Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_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_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_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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
PTCHD2	57540	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	11561526	11561526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcagctgcagcagctGcatctcggcaaccgctcgcg	12	15	2	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:11561526G>A	ENST00000294484.6	+	2	615	c.477G>A	c.(475-477)ctG>ctA	p.L159L	PTCHD2_ENST00000389575.3_Silent_p.L159L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	159					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)		TGCAGCAGCTGCATCTCGGCA	0.672																																					p.L159L		.											.	PTCHD2-209	0			c.G477A						.						15	18	17					1																	11561526		1941	4135	6076	SO:0001819	synonymous_variant	57540	exon2			GCAGCTGCATCTC	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.477G>A	1.37:g.11561526G>A		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	22	8	NM_020780	0	0	0	0	0	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																			.		0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11561526	G	A	11561526	2	1	1	1	0	0	0	0	0	0	0	1	12775	1306	46	3		3	PTCHD2	1	11561526	Silent	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		11561526	237689095	1	1											
VPS13D	55187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12309384	12309384	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtccatgcaaaatgcTgtgaatgagcctgtgagtat	11	6	0	3			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:12309384T>G	ENST00000358136.3	+	6	682	c.552T>G	c.(550-552)gcT>gcG	p.A184A	VPS13D_ENST00000356315.4_Silent_p.A184A	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCAAAATGCTGTGAATGAGC	0.418																																					p.A184A		.											.	VPS13D-95	0			c.T552G						.						146	120	129					1																	12309384		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon6			AAATGCTGTGAAT	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.552T>G	1.37:g.12309384T>G		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	127	48	NM_015378	0	0	0	0	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																			.		0.418	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12309384	T	G	12309384	2	3	1	1	0	0	0	0	0	0	0	1	17241	1567	55	5		5	VPS13D	1	12309384	Silent	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	747858	12309384	236941237	2	2											
PHC2	1912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	33820015	33820015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcataccgtgagctggggaCggctggatgttagggctcgt	16	8	1	1	rs557095087		TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:33820015C>T	ENST00000257118.5	-	8	1595	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	PHC2_ENST00000373422.3_Silent_p.P120P|PHC2_ENST00000431992.1_Silent_p.P485P|PHC2_ENST00000419414.2_Silent_p.P515P|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	514					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCTGGGGACGGCTGGATGT	0.607																																					p.P514P		.											.	PHC2-227	0			c.G1542A						.						98	88	91					1																	33820015		2203	4300	6503	SO:0001819	synonymous_variant	1912	exon8			TGGGGACGGCTGG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1542G>A	1.37:g.33820015C>T		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	123	55	NM_198040	0	0	1	1	0	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																			.		0.607	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		T	33820015	C	T	33820015	2	4	1	1	0	0	0	0	0	0	0	1	11856	523	19	1		1	PHC2	1	33820015	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	21510631	33820015	215430606	3	3											
LCE1B	353132	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	152785074	152785097	+	In_Frame_Del	DEL	GCTGTGGCTCCAGCTCTGGGGGAA	GCTGTGGCTCCAGCTCTGGGGGAA	-													cagtgtcagctccggaggctGctgtggctccagctctgggg					rs200498928|rs558857952|rs371726318|rs79241619	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	GCTGTGGCTCCAGCTCTGGGGGAA	GCTGTGGCTCCAGCTCTGGGGGAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA	ENST00000360090.3	+	1	628_651	c.152_175delGCTGTGGCTCCAGCTCTGGGGGAA	c.(151-177)tgctgtggctccagctctgggggaagc>tgc	p.CGSSSGGS52del		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	52	Gly-rich.				keratinization (GO:0031424)			p.C51F(1)|p.S56C(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)			TCCGGAGGCTGCTGTGGCTCCAGCTCTGGGGGAAGCTGTGGCTC	0.652																																					p.51_59del		.											.	LCE1B-68	2	Substitution - Missense(2)	cervix(1)|breast(1)	c.152_175del						.																																			SO:0001651	inframe_deletion	353132	exon1			GAGGCTGCTGTGG	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.152_175delGCTGTGGCTCCAGCTCTGGGGGAA	1.37:g.152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA	ENSP00000353203:p.Cys52_Ser59del	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	105	22	NM_178349	0	0	0	0	0	A4IF40	In_Frame_Del	DEL	ENST00000360090.3	37	CCDS1027.1																																																																																			.		0.652	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		-	152785097	GCTGTGGCTCCAGCTCTGGGGGAA	-	152785074	7	5	1	1	0	1	0	1	0	0	0	0	8688	1319	46	0	154	0	LCE1B	1	152785074	In_Frame_Del	DEL	GCTGTGGCTCCAGCTCTGGGGGAA	TCGA-OR-A5J1-01A-11D-A29I-10	118965059	152785074	96465547	4	4											
LCE1A	353131	hgsc.bcm.edu	37	chr1	152800122	152800122	+	Silent	SNP	C	C	T													tgtggctccagctctgggggCggctgcagctctgggggagg					rs148143373	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:152800122C>T	ENST00000335123.2	+	1	174	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	58	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCTGGGGGCGGCTGCAGCT	0.667													C|||	3	0.000599042	0.0015	0	5008	,	,		13217	0		0.001	False		,,,				2504	0				p.G58G		.											.	LCE1A-70	0			c.C174T						.	C		0,4406		0,0,2203	36	42	40		174	-0.7	0.7	1	dbSNP_134	40	1,8599		0,1,4299	no	coding-synonymous	LCE1A	NM_178348.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		58/111	152800122	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	353131	exon1			TGGGGGCGGCTGC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.174C>T	1.37:g.152800122C>T		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	73	8	NM_178348	0	0	0	0	0		Silent	SNP	ENST00000335123.2	37	CCDS1028.1																																																																																			C|1.000;T|0.000		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		T	152800122	C	T	152800122	2	4	1	1	0	0	0	0	0	0	0	1	8687	755	27	1		1	LCE1A	1	152800122	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	15048	152800122	96450499	5	5	1	2									
LCE1A	353131	bcgsc.ca	37	chr1	152800131	152800131	+	Silent	SNP	C	C	T													agctctgggggcggctgcagCtctgggggaggtggctgctg							TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:152800131C>T	ENST00000335123.2	+	1	183	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	61	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGGCTGCAGCTCTGGGGGAG	0.677																																					p.S61S		.											.	LCE1A-70	0			c.C183T						.						34	40	38					1																	152800131		2203	4300	6503	SO:0001819	synonymous_variant	353131	exon1			CTGCAGCTCTGGG		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.183C>T	1.37:g.152800131C>T		Somatic	78	1		WXS	Illumina GAIIx	Phase_I	73	11	NM_178348	0	0	0	0	0		Silent	SNP	ENST00000335123.2	37	CCDS1028.1																																																																																			.		0.677	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		T	152800131	C	T	152800131	2	4	1	1	0	0	0	0	0	0	0	1	8687	796	28	3		3	LCE1A	1	152800131	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	9	152800131	96450490	6	6	1	2									
SLC9A11	284525	broad.mit.edu;bcgsc.ca	37	chr1	173499091	173499091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttattagaagtttggCatcttcttgacttttgatat	7	4	2	3			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr1:173499091C>A	ENST00000367714.3	-	18	2688	c.2266G>T	c.(2266-2268)Gcc>Tcc	p.A756S	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	756					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGAAGTTTGGCATCTTCTTGA	0.358																																					p.A756S		.											.	.	0			c.G2266T						.						165	154	158					1																	173499091		2203	4300	6503	SO:0001583	missense	284525	exon18			GTTTGGCATCTTC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2266G>T	1.37:g.173499091C>A	ENSP00000356687:p.Ala756Ser	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	75	6	NM_178527	0	0	0	0	0	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671007	0.47781	.	.	ENSG00000162753	ENST00000367714	T	0.04654	3.58	5.08	-0.989	0.10242	.	0.763835	0.11350	N	0.573045	T	0.01661	0.0053	L	0.40543	1.245	0.80722	D	1	B	0.30406	0.278	B	0.27887	0.084	T	0.48043	-0.9069	10	0.54805	T	0.06	-5.9354	9.22	0.37370	0.0:0.5839:0.0:0.4161	.	756	Q5TAH2	S9A11_HUMAN	S	756	ENSP00000356687:A756S	ENSP00000356687:A756S	A	-	1	0	SLC9A11	171765714	0.987000	0.35691	0.814000	0.32528	0.982000	0.71751	-0.077000	0.11394	-0.458000	0.07023	0.609000	0.83330	GCC	.		0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		A	173499091	C	A	173499091	3	1	1	1	0	0	0	0	1	0	0	0	14756	710	25	3	1152	3	SLC9A11	1	173499091	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	20698960	173499091	75751530	7	7											
DNMT3A	1788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	25505395	25505395	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggcagggtctcagcTgcaccctctccctctgctgg	11	16	4	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr2:25505395T>A	ENST00000264709.3	-	4	700	c.363A>T	c.(361-363)gcA>gcT	p.A121A	DNMT3A_ENST00000406659.3_Silent_p.A121A|DNMT3A_ENST00000321117.5_Silent_p.A121A	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	121					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTCTCAGCTGCACCCTCTC	0.667			"Mis, F, N, S"		AML																																p.A121A		.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A-1924	0			c.A363T						.						34	39	37					2																	25505395		2202	4299	6501	SO:0001819	synonymous_variant	1788	exon4			CTCAGCTGCACCC		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.363A>T	2.37:g.25505395T>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	61	27	NM_175630	0	0	1	2	1	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																			.		0.667	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		A	25505395	T	A	25505395	2	1	1	1	0	0	0	0	0	0	0	1	4690	1567	55	5		5	DNMT3A	2	25505395	Silent	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10		25505395	217693978	8	8											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179501161	179501161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgtggaggtcttttcttTgtttcccaaacgtaaaacac	8	10	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr2:179501161T>C	ENST00000591111.1	-	175	36594	c.36370A>G	c.(36370-36372)Aaa>Gaa	p.K12124E	TTN_ENST00000342992.6_Missense_Mutation_p.K11197E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13765E|TTN_ENST00000359218.5_Missense_Mutation_p.K4825E|TTN_ENST00000460472.2_Missense_Mutation_p.K4700E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4892E			Q8WZ42	TITIN_HUMAN	titin	12124	Ig-like 80.				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)			GTCTTTTCTTTGTTTCCCAAA	0.368																																					p.K13765E		.											.	TTN-636	0			c.A41293G						.						50	49	49					2																	179501161		1826	4089	5915	SO:0001583	missense	7273	exon225			TTTCTTTGTTTCC	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.36370A>G	2.37:g.179501161T>C	ENSP00000465570:p.Lys12124Glu	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	105	49	NM_001267550	0	0	0	0	0	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	16.00	2.999742	0.54147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.76	5.76	0.90799	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);	.	.	.	.	T	0.62938	0.2469	N	0.12502	0.225	0.54753	D	0.999986	D;D;D;D	0.67145	0.992;0.992;0.992;0.996	P;P;P;P	0.62298	0.829;0.829;0.829;0.9	T	0.70605	-0.4826	9	0.87932	D	0	.	16.0718	0.80941	0.0:0.0:0.0:1.0	.	4700;4825;4892;12124	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	11197;4700;4892;4825;4700	ENSP00000343764:K11197E;ENSP00000434586:K4700E;ENSP00000340554:K4892E;ENSP00000352154:K4825E	ENSP00000340554:K4892E	K	-	1	0	TTN	179209406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.195000	0.70347	0.528000	0.53228	AAA	.		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179501161	T	C	179501161	3	2	1	1	0	0	0	0	1	0	0	0	16784	1821	63	4	66952	4	TTN	2	179501161	Missense_Mutation	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	153995766	179501161	63698212	9	9											
TMEM40	55287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	12779634	12779634	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatttgagcttgtgtatttaCcacttgctgggtcagagcct	10	8	1	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr3:12779634C>G	ENST00000314124.7	-	7	781		c.e7+1		TMEM40_ENST00000435218.2_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000264728.8_Splice_Site	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGTGTATTTACCACTTGCTGG	0.557																																					.		.											.	TMEM40-90	0			c.424+1G>C						.						93	85	88					3																	12779634		2203	4300	6503	SO:0001630	splice_region_variant	55287	exon8			TATTTACCACTTG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.424+1G>C	3.37:g.12779634C>G		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	147	60	NM_018306	0	0	0	0	0	C9JID5|Q8NAL4|Q9NUZ4	Splice_Site	SNP	ENST00000314124.7	37	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739932	0.49045	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3624	0.66782	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM40	12754634	1.000000	0.71417	0.741000	0.31004	0.679000	0.39708	3.252000	0.51461	2.515000	0.84797	0.655000	0.94253	.	.		0.557	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306	Intron	G	12779634	C	G	12779634	5	3	1	1	0	0	0	0	0	0	1	0	16210	521	18	3	300	3	TMEM40	3	12779634	Splice_Site	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		12779634	185242796	10	10											
TRAK1	22906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42265106	42265106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcagctcaatagtggCatccggcggaatcgcagctt	14	11	1	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr3:42265106C>T	ENST00000327628.5	+	16	3139	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	TRAK1_ENST00000396175.1_Silent_p.G855G|RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	913					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						TCAATAGTGGCATCCGGCGGA	0.602																																					p.G913G	GBM(44;195 884 22595 31865 41850)	.											.	TRAK1-91	0			c.C2739T						.						46	51	49					3																	42265106		2031	4187	6218	SO:0001819	synonymous_variant	22906	exon16			TAGTGGCATCCGG		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.2739C>T	3.37:g.42265106C>T		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	161	72	NM_001042646	0	0	4	9	5	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	CCDS43072.1																																																																																			.		0.602	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		T	42265106	C	T	42265106	2	4	1	1	0	0	0	0	0	0	0	1	16497	697	25	3		3	TRAK1	3	42265106	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	29485472	42265106	155757324	11	11											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																							.											.	CACNA1D-100	0									.																																			SO:0001582	initiator_codon_variant	776	wholegene			TTCGTGGATGATG	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		3.37:g.53529202_53529204delGAT		Somatic	394	0		WXS	Illumina GAIIx	Phase_I	463	7	NM_001128840	0	0	0	0	0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	ENST00000350061.5	37	CCDS46848.1																																																																																			.		0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		-	53529195	GAT	-	53529193	7	5	1	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-OR-A5J1-01A-11D-A29I-10	11264087	53529193	144493237	12	12											
ZIC4	84107	bcgsc.ca	37	chr3	147108756	147108756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtacgcgccgccaccgccgcCgaggaggccacctgggactt	14	17	0	0	rs17509456	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr3:147108756C>G	ENST00000383075.3	-	4	1478	c.966G>C	c.(964-966)tcG>tcC	p.S322S	ZIC4_ENST00000491672.1_Silent_p.S116S|ZIC4_ENST00000473123.1_Silent_p.S322S|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Silent_p.S372S|ZIC4_ENST00000484399.1_Silent_p.S322S|ZIC4_ENST00000425731.3_Silent_p.S360S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	322						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S322S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCACCGCCGCCGAGGAGGCCA	0.721													C|||	87	0.0173722	0.0038	0.0245	5008	,	,		14138	0		0.0577	False		,,,				2504	0.0072				p.S372S		.											.	ZIC4-91	1	Substitution - coding silent(1)	lung(1)	c.G1116C						.	C	,,	30,4006		0,30,1988	16	20	18		1116,1080,966	-2.5	0.9	3	dbSNP_123	18	369,7951		7,355,3798	no	coding-synonymous,coding-synonymous,coding-synonymous	ZIC4	NM_001168378.1,NM_001168379.1,NM_032153.5	,,	7,385,5786	GG,GC,CC		4.4351,0.7433,3.2292	,,	372/385,360/373,322/335	147108756	399,11957	2018	4160	6178	SO:0001819	synonymous_variant	84107	exon4			CGCCGCCGAGGAG	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.966G>C	3.37:g.147108756C>G		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	10	3	NM_001168378	0	0	0	0	0	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	CCDS43160.1																																																																																			C|0.975;G|0.025		0.721	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			G	147108756	C	G	147108756	2	3	1	1	0	0	0	0	0	0	0	1	17729	639	23	2		2	ZIC4	3	147108756	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	93579563	147108756	50913674	13	13											
LXN	56925	broad.mit.edu	37	chr3	158388792	158388792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttaaggtgatacttatgtCctcttcctggaatatcctaa	6	8	1	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr3:158388792C>T	ENST00000264265.3	-	2	360	c.146G>A	c.(145-147)gGa>gAa	p.G49E	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	49	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATACTTATGTCCTCTTCCTGG	0.313																																					p.G49E		.											.	LXN-90	0			c.G146A						.						36	41	40					3																	158388792		2183	4297	6480	SO:0001583	missense	56925	exon2			TTATGTCCTCTTC	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.146G>A	3.37:g.158388792C>T	ENSP00000264265:p.Gly49Glu	Somatic	376	0		WXS	Illumina GAIIx	Phase_I	356	4	NM_020169	0	0	10	10	0	Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293376	0.80914	.	.	ENSG00000079257	ENST00000264265	T	0.52754	0.65	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.69379	-0.5161	10	0.72032	D	0.01	-22.8528	17.1084	0.86669	0.0:1.0:0.0:0.0	.	49	Q9BS40	LXN_HUMAN	E	49	ENSP00000264265:G49E	ENSP00000264265:G49E	G	-	2	0	LXN	159871486	0.967000	0.33354	0.997000	0.53966	0.990000	0.78478	3.330000	0.52068	2.801000	0.96364	0.650000	0.86243	GGA	.		0.313	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		T	158388792	C	T	158388792	3	4	1	1	0	0	0	0	1	0	0	0	9125	855	30	3	542	3	LXN	3	158388792	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	11280036	158388792	39633638	14	14											
SCFD2	152579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	54231383	54231383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagcgatgacctgactTaaggaacctacagcaaaaca	8	12	0	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr4:54231383T>G	ENST00000401642.3	-	1	859	c.726A>C	c.(724-726)ttA>ttC	p.L242F	SCFD2_ENST00000388940.4_Missense_Mutation_p.L242F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	242					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGACCTGACTTAAGGAACCTA	0.527																																					p.L242F		.											.	SCFD2-93	0			c.A726C						.						142	132	136					4																	54231383		2203	4300	6503	SO:0001583	missense	152579	exon1			CTGACTTAAGGAA	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.726A>C	4.37:g.54231383T>G	ENSP00000384182:p.Leu242Phe	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	159	76	NM_152540	0	0	3	5	2	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	T	5.196	0.221783	0.09863	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79247	-1.25;-1.25	5.25	3.43	0.39272	.	0.168843	0.52532	N	0.000080	T	0.65668	0.2713	L	0.28608	0.87	0.39173	D	0.962627	B;B	0.17667	0.023;0.013	B;B	0.16722	0.016;0.007	T	0.66106	-0.6006	10	0.62326	D	0.03	.	10.03	0.42094	0.0:0.1421:0.6985:0.1594	.	242;242	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	242	ENSP00000384182:L242F;ENSP00000373592:L242F	ENSP00000373592:L242F	L	-	3	2	SCFD2	53926140	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	1.998000	0.40796	1.424000	0.47217	0.260000	0.18958	TTA	.		0.527	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		G	54231383	T	G	54231383	3	3	1	1	0	0	0	0	1	0	0	0	13935	1751	61	5	1364	5	SCFD2	4	54231383	Missense_Mutation	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10		54231383	136922893	15	15											
FRAS1	80144	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	79399070	79399070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgtggagctcagcatGccagcttatgccctgttagg	11	11	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr4:79399070G>A	ENST00000264895.6	+	55	8393	c.7953G>A	c.(7951-7953)atG>atA	p.M2651I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2647					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						AGCTCAGCATGCCAGCTTATG	0.473																																					p.M2651I		.											.	FRAS1-68	0			c.G7953A						.						83	82	82					4																	79399070		2020	4181	6201	SO:0001583	missense	80144	exon55			CAGCATGCCAGCT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7953G>A	4.37:g.79399070G>A	ENSP00000264895:p.Met2651Ile	Somatic	241	2		WXS	Illumina GAIIx	Phase_I	267	113	NM_025074	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.916400|2.916400	0.52546|0.52546	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.27104	.|1.69	5.69|5.69	4.84|4.84	0.62591|0.62591	.|.	.|0.040345	.|0.85682	.|D	.|0.000000	T|T	0.50718|0.50718	0.1632|0.1632	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.65684	.|0.937	T|T	0.55127|0.55127	-0.8189|-0.8189	5|10	.|0.51188	.|T	.|0.08	.|.	17.1187|17.1187	0.86696|0.86696	0.0:0.1266:0.8734:0.0|0.0:0.1266:0.8734:0.0	.|.	.|2651	.|E9PHH6	.|.	T|I	880|2651	.|ENSP00000264895:M2651I	.|ENSP00000264895:M2651I	A|M	+|+	1|3	0|0	FRAS1|FRAS1	79618094|79618094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.361000|0.361000	0.29550|0.29550	7.471000|7.471000	0.80985|0.80985	1.530000|1.530000	0.49136|0.49136	-0.165000|-0.165000	0.13383|0.13383	GCC|ATG	.		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79399070	G	A	79399070	3	1	1	1	0	0	0	0	1	0	0	0	6066	1319	46	3	8246	3	FRAS1	4	79399070	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10	25167687	79399070	111755206	16	16											
TACR3	6870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	104640739	104640739	+	Frame_Shift_Del	DEL	C	C	-													ctcaactgcccccgtggccgCcccggcagctagcgaggcgg							TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr4:104640739delC	ENST00000304883.2	-	1	234	c.94delG	c.(94-96)gcgfs	p.A33fs		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	33					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCCGTGGCCGCCCCGGCAGCT	0.682																																					p.A32fs		.											.	TACR3-525	0			c.94delG						.						33	40	38					4																	104640739		2202	4297	6499	SO:0001589	frameshift_variant	6870	exon1			TGGCCGCCCCGGC	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.94delG	4.37:g.104640739delC	ENSP00000303325:p.Ala33fs	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	40	14	NM_001059	0	0	0	0	0	Q0P510	Frame_Shift_Del	DEL	ENST00000304883.2	37	CCDS3664.1																																																																																			.		0.682	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		-	104640739	C	-	104640739	7	5	1	1	0	1	0	1	0	0	0	0	15554	739	26	0	1323	0	TACR3	4	104640739	Frame_Shift_Del	DEL	C	TCGA-OR-A5J1-01A-11D-A29I-10	25241669	104640739	86513537	17	17											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	114277261	114277261	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagctgttgccaaaaCagaactcttgacggaagtgg	11	10	1	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr4:114277261C>G	ENST00000357077.4	+	38	7540	c.7487C>G	c.(7486-7488)aCa>aGa	p.T2496R	ANK2_ENST00000264366.6_Missense_Mutation_p.T2463R|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2496					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)		GTTGCCAAAACAGAACTCTTG	0.537																																					p.T2496R		.											.	ANK2-583	0			c.C7487G						.						71	73	72					4																	114277261		2203	4300	6503	SO:0001583	missense	287	exon38			CCAAAACAGAACT	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.7487C>G	4.37:g.114277261C>G	ENSP00000349588:p.Thr2496Arg	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	75	28	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137681	0.56936	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.38;-0.4	5.99	5.99	0.97316	.	0.638936	0.14607	N	0.309282	T	0.66848	0.2831	L	0.60455	1.87	0.80722	D	1	B;P	0.45827	0.257;0.867	B;B	0.41619	0.063;0.361	T	0.66360	-0.5943	9	.	.	.	.	17.4037	0.87467	0.0:0.8758:0.1242:0.0	.	2463;2496	Q01484;Q01484-4	ANK2_HUMAN;.	R	2496;2463	ENSP00000349588:T2496R;ENSP00000264366:T2463R	.	T	+	2	0	ANK2	114496710	0.999000	0.42202	0.971000	0.41717	0.864000	0.49448	2.348000	0.44045	2.847000	0.97988	0.655000	0.94253	ACA	.		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114277261	C	G	114277261	3	3	1	1	0	0	0	0	1	0	0	0	621	478	17	3	7702	3	ANK2	4	114277261	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	9636522	114277261	76877015	18	18											
TRAM1L1	133022	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	118006510	118006519	+	Frame_Shift_Del	DEL	GAACGGGGGG	GAACGGGGGG	-													caggatgaattcctggctgaGaacgggggggttcttggtgc					rs113650718|rs139767798	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	GAACGGGGGG	GAACGGGGGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr4:118006510_118006519delGAACGGGGGG	ENST00000310754.4	-	1	217_226	c.31_40delCCCCCCGTTC	c.(31-42)ccccccgttctcfs	p.PPVL11fs		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	11					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCTGGCTGAGAACGGGGGGGTTCTTGGTG	0.624																																					p.11_14del		.											.	TRAM1L1-90	0			c.31_40del						.																																			SO:0001589	frameshift_variant	133022	exon1			GGCTGAGAACGGG	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.31_40delCCCCCCGTTC	4.37:g.118006510_118006519delGAACGGGGGG	ENSP00000309402:p.Pro11fs	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	109	29	NM_152402	0	0	0	0	0	Q8N2L7	Frame_Shift_Del	DEL	ENST00000310754.4	37	CCDS3707.1																																																																																			.		0.624	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		-	118006519	GAACGGGGGG	-	118006510	7	5	1	1	0	1	0	1	0	0	0	0	16500	942	33	0	1073	0	TRAM1L1	4	118006510	Frame_Shift_Del	DEL	GAACGGGGGG	TCGA-OR-A5J1-01A-11D-A29I-10	3729249	118006510	73147766	19	19											
KLHL3	26249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	136973018	136973018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccacactgctccgccgcGtgttcatcggggccacaaag	10	17	1	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr5:136973018G>A	ENST00000309755.4	-	11	1729	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506873.1_Intron|KLHL3_ENST00000508657.1_Missense_Mutation_p.T397M|KLHL3_ENST00000506491.1_Missense_Mutation_p.T347M	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	429					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)		GCTCCGCCGCGTGTTCATCGG	0.632																																					p.T429M		.											.	KLHL3-90	0			c.C1286T						.						99	88	92					5																	136973018		2203	4300	6503	SO:0001583	missense	26249	exon11			CGCCGCGTGTTCA	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.1286C>T	5.37:g.136973018G>A	ENSP00000312397:p.Thr429Met	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	178	82	NM_017415	0	0	0	0	0	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324381	0.95708	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000505853	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.94	4.94	0.65067	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.982;0.99	D	0.84626	0.0687	10	0.87932	D	0	.	18.7263	0.91714	0.0:0.0:1.0:0.0	.	389;429	D6RH21;Q9UH77	.;KLHL3_HUMAN	M	347;397;429;389	ENSP00000424828:T347M;ENSP00000422099:T397M;ENSP00000312397:T429M;ENSP00000426173:T389M	ENSP00000312397:T429M	T	-	2	0	KLHL3	137000917	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	9.601000	0.98297	2.723000	0.93209	0.655000	0.94253	ACG	.		0.632	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			A	136973018	G	A	136973018	3	1	1	1	0	0	0	0	1	0	0	0	8410	1145	40	1	497	1	KLHL3	5	136973018	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		136973018	43942242	20	20											
GABRA1	2554	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	161300197	161300197	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaaaggacctatgacagtCctccggttaaataacctaat	6	9	0	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr5:161300197C>T	ENST00000428797.2	+	6	685	c.330C>T	c.(328-330)gtC>gtT	p.V110V	GABRA1_ENST00000420560.1_Silent_p.V110V|GABRA1_ENST00000437025.2_Silent_p.V110V|GABRA1_ENST00000023897.6_Silent_p.V110V|GABRA1_ENST00000444819.1_Silent_p.V110V|GABRA1_ENST00000393943.4_Silent_p.V110V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	110					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTATGACAGTCCTCCGGTTAA	0.393																																					p.V110V		.											.	GABRA1-93	0			c.C330T						.						83	85	85					5																	161300197		2203	4300	6503	SO:0001819	synonymous_variant	2554	exon5			GACAGTCCTCCGG		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.330C>T	5.37:g.161300197C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	72	8	NM_001127644	0	0	0	0	0	D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	CCDS4357.1																																																																																			.		0.393	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		T	161300197	C	T	161300197	2	4	1	1	0	0	0	0	0	0	0	1	6184	842	30	3		3	GABRA1	5	161300197	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	24327179	161300197	19615063	21	21											
HIST1H3B	8358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26031919	26031919	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggcgagcgagctggatgtCtttgggcataatagtcactc	14	9	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr6:26031919C>G	ENST00000244661.2	-	1	369	c.370G>C	c.(370-372)Gac>Cac	p.D124H		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	124					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AGCTGGATGTCTTTGGGCATA	0.507																																					p.D124H		.											.	HIST1H3B-92	0			c.G370C						.						72	74	73					6																	26031919		2203	4300	6503	SO:0001583	missense	8358	exon1			GGATGTCTTTGGG	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.370G>C	6.37:g.26031919C>G	ENSP00000244661:p.Asp124His	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	128	51	NM_003537	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	10.74	1.435317	0.25813	.	.	ENSG00000124693	ENST00000244661	T	0.71222	-0.55	5.17	5.17	0.71159	.	.	.	.	.	T	0.80380	0.4612	.	.	.	0.50632	D	0.999883	.	.	.	.	.	.	T	0.82916	-0.0220	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	H	124	ENSP00000244661:D124H	ENSP00000244661:D124H	D	-	1	0	HIST1H3B	26139898	1.000000	0.71417	0.989000	0.46669	0.011000	0.07611	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAC	.		0.507	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		G	26031919	C	G	26031919	3	3	1	1	0	0	0	0	1	0	0	0	7183	913	32	3	44	3	HIST1H3B	6	26031919	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		26031919	145083148	22	22											
MICA	100507436	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31378525	31378525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagggacttgacagggaaCggaaaggacctcaggatgac	14	9	1	2	rs17206561	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr6:31378525C>T	ENST00000449934.2	+	2	330	c.276C>T	c.(274-276)aaC>aaT	p.N92N	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGACAGGGAACGGAAAGGACC	0.537																																					p.N92N		.											.	.	0			c.C276T						.	C		0,1384		0,0,692	79	87	84		276	-4.2	0	6	dbSNP_123	84	1,3181		0,1,1590	no	coding-synonymous	MICA	NM_001177519.1		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		92/333	31378525	1,4565	692	1591	2283	SO:0001819	synonymous_variant	100507436	exon2			AGGGAACGGAAAG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.276C>T	6.37:g.31378525C>T		Somatic	196	1		WXS	Illumina GAIIx	Phase_I	232	108	NM_001177519	0	0	16	25	9		Silent	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	0.838	-0.742760	0.03088	0.0	3.14E-4	ENSG00000204520	ENST00000376222	.	.	.	2.12	-4.24	0.03777	.	.	.	.	.	T	0.02083	0.0065	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	7	0.02654	T	1	.	0.5287	0.00624	0.2873:0.2415:0.2887:0.1825	rs17206561	12	Q5SS58	.	W	12	.	ENSP00000365396:R12W	R	+	1	2	MICA	31486504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.223000	0.00041	-4.071000	0.00076	-0.818000	0.03119	CGG	C|0.765;T|0.235		0.537	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31378525	C	T	31378525	2	4	1	1	0	0	0	0	0	0	0	1	9606	535	19	1		1	MICA	6	31378525	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	5346606	31378525	139736542	23	23											
PRIM2	5558	bcgsc.ca	37	chr6	57393112	57393112	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttctttttttaaagTcattcctacactagccaaga	3	8	2	1	rs11964288	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr6:57393112T>C	ENST00000607273.1	+	9	849	c.762T>C	c.(760-762)agT>agC	p.S254S	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	254					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.S254S(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttaaaGTCATTCCTACA	0.264																																					.		.											.	PRIM2-227	2	Substitution - coding silent(2)	prostate(1)|stomach(1)	.						.	T		47,3541		0,47,1747	62	55	57		762	3.5	1	6	dbSNP_120	57	391,7735		0,391,3672	yes	coding-synonymous-near-splice	PRIM2	XM_003403439.1		0,438,5419	CC,CT,TT		4.8117,1.3099,3.7391		254/510	57393112	438,11276	1794	4063	5857	SO:0001630	splice_region_variant	5558	.			TTAAAGTCATTCC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.762-1T>C	6.37:g.57393112T>C		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	33	9	.	0	0	0	0	0	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	ENST00000607273.1	37																																																																																				T|0.985;C|0.015		0.264	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	Silent	C	57393112	T	C	57393112	5	2	1	1	0	0	0	0	0	0	1	0	12533	1681	58	4	792	4	PRIM2	6	57393112	Splice_Site	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	26014587	57393112	113721955	24	24											
DDO	8528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	110714258	110714258	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatctctctgctatttTctgcatccggggacagattc	8	10	3	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr6:110714258T>G	ENST00000368924.3	-	5	845	c.830A>C	c.(829-831)gAa>gCa	p.E277A	DDO_ENST00000368923.3_Missense_Mutation_p.E218A	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	249					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TCTGCTATTTTCTGCATCCGG	0.542																																					p.E277A		.											.	DDO-155	0			c.A830C						.						147	154	152					6																	110714258		2203	4300	6503	SO:0001583	missense	8528	exon5			CTATTTTCTGCAT	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.830A>C	6.37:g.110714258T>G	ENSP00000357920:p.Glu277Ala	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	100	50	NM_003649	0	0	8	13	5	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	T	8.849	0.944057	0.18281	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.56275	0.47;0.47;0.47	5.84	4.69	0.59074	.	0.520384	0.21773	N	0.069336	T	0.22044	0.0531	L	0.43701	1.375	0.09310	N	1	B;B	0.24368	0.098;0.102	B;B	0.27380	0.048;0.079	T	0.15037	-1.0451	10	0.17369	T	0.5	-8.7248	9.4042	0.38451	0.0:0.192:0.0:0.808	.	218;277	Q99489-4;Q99489-3	.;.	A	277;218;249	ENSP00000357920:E277A;ENSP00000357919:E218A;ENSP00000357921:E249A	ENSP00000357919:E218A	E	-	2	0	DDO	110820951	0.000000	0.05858	0.702000	0.30337	0.740000	0.42216	0.119000	0.15626	1.052000	0.40392	0.460000	0.39030	GAA	.		0.542	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			G	110714258	T	G	110714258	3	3	1	1	0	0	0	0	1	0	0	0	4343	1783	62	5	283	5	DDO	6	110714258	Missense_Mutation	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	53321146	110714258	60400809	25	25											
DNAJB9	4189	bcgsc.ca	37	chr7	108212353	108212353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacaaaaataagagcccGgatgctgaagcaaaattcag	9	9	1	3	rs1043615	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr7:108212353G>A	ENST00000249356.3	+	2	729	c.183G>A	c.(181-183)ccG>ccA	p.P61P	THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000438865.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000313516.5_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	61	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						ATAAGAGCCCGGATGCTGAAG	0.413													G|||	2396	0.478435	0.2648	0.5836	5008	,	,		15419	0.6369		0.497	False		,,,				2504	0.5102				p.P61P		.											.	DNAJB9-226	0			c.G183A						.	G		1313,3093	439.4+/-345.7	214,885,1104	75	82	80		183	-1.5	1	7	dbSNP_86	80	4526,4074	591.3+/-392.8	1181,2164,955	yes	coding-synonymous	DNAJB9	NM_012328.2		1395,3049,2059	AA,AG,GG		47.3721,29.8003,44.8947		61/224	108212353	5839,7167	2203	4300	6503	SO:0001819	synonymous_variant	4189	exon2			GAGCCCGGATGCT	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.183G>A	7.37:g.108212353G>A		Somatic	139	1		WXS	Illumina GAIIx	Phase_I	127	5	NM_012328	0	0	11	11	0		Silent	SNP	ENST00000249356.3	37	CCDS5752.1																																																																																			G|0.543;A|0.457		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			A	108212353	G	A	108212353	2	1	1	1	0	0	0	0	0	0	0	1	4641	1103	39	1		1	DNAJB9	7	108212353	Silent	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		108212353	50926310	26	26											
RBM28	55131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	127954955	127954955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctttctcttctgctctGggggcaccttgctttgttcc	9	15	3	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr7:127954955G>A	ENST00000223073.2	-	17	2021	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.P495L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	636					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTT	0.562																																					p.P636L		.											.	RBM28-92	0			c.C1907T						.						193	185	188					7																	127954955		2203	4300	6503	SO:0001583	missense	55131	exon17			TGCTCTGGGGGCA	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1907C>T	7.37:g.127954955G>A	ENSP00000223073:p.Pro636Leu	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	178	63	NM_018077	0	0	10	15	5	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321431	0.23994	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.20069	3.0;2.1	6.17	-3.52	0.04682	.	1.166910	0.06045	N	0.655546	T	0.09291	0.0229	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.002	T	0.31558	-0.9939	10	0.25106	T	0.35	4.0142	3.1349	0.06436	0.1623:0.1886:0.4668:0.1822	.	495;636;495	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	L	636;495	ENSP00000223073:P636L;ENSP00000390517:P495L	ENSP00000223073:P636L	P	-	2	0	RBM28	127742191	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-1.392000	0.02523	-0.703000	0.05049	0.655000	0.94253	CCA	.		0.562	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		A	127954955	G	A	127954955	3	1	1	1	0	0	0	0	1	0	0	0	13173	1348	47	3	384	3	RBM28	7	127954955	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10	19742602	127954955	31183708	27	27											
KCNH2	3757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150647026	150647026	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtgtctgtttgtggcggatCctgaagggaaggagaatgtg	17	4	1	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr7:150647026C>G	ENST00000262186.5	-	9	2800				KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.R876S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						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)	TGTGGCGGATCCTGAAGGGAA	0.542																																					p.R876S	GBM(137;110 1844 13671 20123 45161)	.											.	KCNH2-94	0			c.G2628C						.						26	37	34					7																	150647026		1118	2193	3311	SO:0001627	intron_variant	3757	exon9			GCGGATCCTGAAG	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.2398+229G>C	7.37:g.150647026C>G		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	107	34	NM_172056	0	0	9	23	14	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799387	0.50208	.	.	ENSG00000055118	ENST00000430723	D	0.99214	-5.57	2.83	1.9	0.25705	.	.	.	.	.	D	0.95739	0.8614	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.93211	0.6600	9	0.72032	D	0.01	.	6.9067	0.24313	0.2741:0.7259:0.0:0.0	.	876;536	G5E9I0;Q708S9	.;.	S	876	ENSP00000387657:R876S	ENSP00000387657:R876S	R	-	3	2	KCNH2	150277959	0.000000	0.05858	0.056000	0.19401	0.461000	0.32589	0.256000	0.18351	0.727000	0.32360	0.462000	0.41574	AGG	.		0.542	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		G	150647026	C	G	150647026	1	3	1	0	1	0	0	0	0	0	0	0	8059	854	30	3		3	KCNH2	7	150647026	Intron	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	22692071	150647026	8491637	28	28											
GPR124	25960	broad.mit.edu	37	chr8	37697097	37697097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacctctgctgtctttgCggggggcatcacactcacca	10	14	4	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr8:37697097C>T	ENST00000412232.2	+	16	2481	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	GPR124_ENST00000315215.7_Missense_Mutation_p.A606V	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	823					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCTGTCTTTGCGGGGGGCATC	0.597																																					p.A823V		.											.	GPR124-157	0			c.C2468T						.						82	70	74					8																	37697097		2203	4300	6503	SO:0001583	missense	25960	exon16			TCTTTGCGGGGGG	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.2468C>T	8.37:g.37697097C>T	ENSP00000406367:p.Ala823Val	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	160	6	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192372	0.21954	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.34859	1.34;1.34	4.73	2.9	0.33743	GPCR, family 2-like (1);	0.117834	0.56097	N	0.000025	T	0.18676	0.0448	L	0.36672	1.1	0.53688	D	0.999972	P;B	0.44090	0.826;0.343	B;B	0.32393	0.142;0.145	T	0.12400	-1.0549	10	0.06494	T	0.89	-15.8472	10.0349	0.42122	0.0:0.8341:0.0:0.1659	.	606;823	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	816;606;823	ENSP00000323508:A606V;ENSP00000406367:A823V	ENSP00000323508:A606V	A	+	2	0	GPR124	37816255	0.998000	0.40836	0.677000	0.29947	0.144000	0.21451	3.918000	0.56432	0.579000	0.29504	0.655000	0.94253	GCG	.		0.597	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37697097	C	T	37697097	3	4	1	1	0	0	0	0	1	0	0	0	6664	768	27	1	2509	1	GPR124	8	37697097	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		37697097	108666925	29	29											
MEGF9	1955	bcgsc.ca	37	chr9	123421744	123421744	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaaaagccctctttgcaGgtttcacagtgaagcccctg	10	11	2	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr9:123421744G>T	ENST00000373930.3	-	2	822	c.711C>A	c.(709-711)acC>acA	p.T237T	MEGF9_ENST00000426959.1_Silent_p.T274T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	237	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCTCTTTGCAGGTTTCACAGT	0.512																																					p.T237T		.											.	.	0			c.C711A						.						62	62	62					9																	123421744		1907	4128	6035	SO:0001819	synonymous_variant	1955	exon2			TTTGCAGGTTTCA	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.711C>A	9.37:g.123421744G>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	94	4	NM_001080497	0	0	1	1	0	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																			.		0.512	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		T	123421744	G	T	123421744	2	4	1	1	0	0	0	0	0	0	0	1	9502	987	35	3		3	MEGF9	9	123421744	Silent	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		123421744	17791687	30	30											
METTL11A	28989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	132395087	132395087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgcttggggggtatggCcacatctccagcatcgacat	13	11	1	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr9:132395087C>T	ENST00000372486.1	+	2	454	c.105C>T	c.(103-105)ggC>ggT	p.G35G	NTMT1_ENST00000372481.3_Silent_p.G35G|NTMT1_ENST00000372483.4_Silent_p.G35G|NTMT1_ENST00000372480.1_Silent_p.G35G|NTMT1_ENST00000459968.2_Silent_p.G35G|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_Intron			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	35					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GGGGGTATGGCCACATCTCCA	0.557																																					p.G35G		.											.	.	0			c.C105T						.						168	142	150					9																	132395087		2203	4300	6503	SO:0001819	synonymous_variant	28989	exon2			GTATGGCCACATC	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.105C>T	9.37:g.132395087C>T		Somatic	178	0		WXS	Illumina GAIIx	Phase_I	175	71	NM_014064	0	0	65	99	34	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	CCDS35160.1																																																																																			.		0.557	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		T	132395087	C	T	132395087	2	4	1	1	0	0	0	0	0	0	0	1	9533	726	26	3		3	METTL11A	9	132395087	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	8973343	132395087	8818344	31	31											
SNAPC4	6621	broad.mit.edu;bcgsc.ca	37	chr9	139272547	139272547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccttctcaggcccaggCtggcgcaggggcagcttctc	13	17	2	0	rs547438767	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr9:139272547C>T	ENST00000298532.2	-	21	4100	c.3732G>A	c.(3730-3732)caG>caA	p.Q1244Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCCCAGGCTGGCGCAGGG	0.721																																					p.Q1244Q		.											.	SNAPC4-90	0			c.G3732A						.						5	5	5					9																	139272547		2017	4003	6020	SO:0001819	synonymous_variant	6621	exon21			CCCAGGCTGGCGC	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3732G>A	9.37:g.139272547C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	19	5	NM_003086	0	0	6	9	3		Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																			.		0.721	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		T	139272547	C	T	139272547	2	4	1	1	0	0	0	0	0	0	0	1	14882	796	28	3		3	SNAPC4	9	139272547	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	6877460	139272547	1940884	32	32											
OPN4	94233	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	88419681	88419681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcggggcctgcaaggGcaatggcgagtccctgtggc	16	12	0	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr10:88419681G>A	ENST00000241891.5	+	6	997	c.830G>A	c.(829-831)gGc>gAc	p.G277D	OPN4_ENST00000372071.2_Missense_Mutation_p.G288D	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	277					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCTGCAAGGGCAATGGCGAG	0.632																																					p.G288D		.											.	OPN4-69	0			c.G863A						.						104	77	86					10																	88419681		2203	4300	6503	SO:0001583	missense	94233	exon7			GCAAGGGCAATGG	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.830G>A	10.37:g.88419681G>A	ENSP00000241891:p.Gly277Asp	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	174	12	NM_001030015	0	0	0	0	0	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	5.864	0.343624	0.11126	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.70631	-0.46;-0.07;-0.5	5.16	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.674330	0.14623	N	0.308312	T	0.51160	0.1658	N	0.20881	0.62	0.09310	N	0.999991	B;B;B	0.16802	0.009;0.005;0.019	B;B;B	0.21360	0.034;0.02;0.026	T	0.30650	-0.9971	10	0.12430	T	0.62	.	8.0831	0.30756	0.3807:0.0:0.6193:0.0	.	288;277;288	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	D	288;277;288	ENSP00000361141:G288D;ENSP00000241891:G277D;ENSP00000393132:G288D	ENSP00000241891:G277D	G	+	2	0	OPN4	88409661	0.798000	0.28890	0.033000	0.17914	0.095000	0.18619	1.989000	0.40707	0.579000	0.29504	-0.142000	0.14014	GGC	.		0.632	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88419681	G	A	88419681	3	1	1	1	0	0	0	0	1	0	0	0	10921	1203	42	3	889	3	OPN4	10	88419681	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		88419681	47115066	33	33											
DNAJC4	3338	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	64001585	64001585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagcgacaacggctaGggcagcggcagccgccacca	15	14	0	0	rs568199754	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr11:64001585G>T	ENST00000321685.3	+	7	1120	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	DNAJC4_ENST00000355040.4_3'UTR|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_Nonstop_Mutation_p.*250Y|VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	219					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						ACAACGGCTAGGGCAGCGGCA	0.687																																					p.G219W		.											.	DNAJC4-226	0			c.G655T						.						11	17	15					11																	64001585		1978	4153	6131	SO:0001583	missense	3338	exon7			CGGCTAGGGCAGC	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.655G>T	11.37:g.64001585G>T	ENSP00000396896:p.Gly219Trp	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	54	7	NM_005528	0	0	125	151	26	O14716	Missense_Mutation	SNP	ENST00000321685.3	37	CCDS41666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.227|9.227	1.034849|1.034849	0.19590|0.19590	.|.	.|.	ENSG00000110011|ENSG00000110011	ENST00000321685|ENST00000321460;ENST00000535246	T|.	0.23147|.	1.92|.	4.86|4.86	1.29|1.29	0.21616|0.21616	.|.	2.152570|.	0.03691|.	N|.	0.247058|.	T|.	0.16514|.	0.0397|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.38788|.	0.647|.	B|.	0.33295|.	0.161|.	T|.	0.27806|.	-1.0063|.	10|.	0.66056|.	D|.	0.02|.	-1.9692|-1.9692	6.1863|6.1863	0.20500|0.20500	0.6925:0.0:0.3075:0.0|0.6925:0.0:0.3075:0.0	.|.	219|.	Q9NNZ3|.	DNJC4_HUMAN|.	W|Y	219|250;156	ENSP00000396896:G219W|.	ENSP00000396896:G219W|.	G|X	+|+	1|3	0|2	DNAJC4|DNAJC4	63758161|63758161	0.008000|0.008000	0.16893|0.16893	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.145000|0.145000	0.16157|0.16157	0.318000|0.318000	0.23185|0.23185	-0.372000|-0.372000	0.07161|0.07161	GGG|TAG	.		0.687	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			T	64001585	G	T	64001585	3	4	1	1	0	0	0	0	1	0	0	0	4663	1000	35	3	677	3	DNAJC4	11	64001585	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		64001585	71004931	34	34											
KLRB1	3820	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	9760409	9760409	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgtgggtaagtttaaCtcagcatatattgcttgttg	11	5	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr12:9760409C>G	ENST00000229402.3	-	1	73	c.27G>C	c.(25-27)gaG>gaC	p.E9D		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	9					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						GTAAGTTTAACTCAGCATATA	0.428																																					p.E9D		.											.	KLRB1-90	0			c.G27C						.						221	174	190					12																	9760409		2203	4300	6503	SO:0001583	missense	3820	exon1			GTTTAACTCAGCA	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.27G>C	12.37:g.9760409C>G	ENSP00000229402:p.Glu9Asp	Somatic	214	1		WXS	Illumina GAIIx	Phase_I	312	127	NM_002258	0	0	0	0	0	Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.549865	0.00926	.	.	ENSG00000111796	ENST00000229402	T	0.25085	1.82	2.89	-1.41	0.08941	.	0.633204	0.13071	N	0.416118	T	0.05868	0.0153	N	0.01352	-0.895	0.19300	N	0.999977	B	0.06786	0.001	B	0.01281	0.0	T	0.38067	-0.9678	10	0.07644	T	0.81	-0.6787	4.3058	0.10946	0.3843:0.4208:0.0:0.1949	.	9	Q12918	KLRB1_HUMAN	D	9	ENSP00000229402:E9D	ENSP00000229402:E9D	E	-	3	2	KLRB1	9651676	0.623000	0.27094	0.485000	0.27403	0.018000	0.09664	-0.512000	0.06313	-0.260000	0.09418	-0.362000	0.07510	GAG	.		0.428	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		G	9760409	C	G	9760409	3	3	1	1	0	0	0	0	1	0	0	0	8441	564	20	3	673	3	KLRB1	12	9760409	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		9760409	124091486	35	35											
TAS2R20	259295	bcgsc.ca	37	chr12	11150319	11150319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccaactctggagacTgccagagcagcaataatttg	9	10	1	2	rs11054143	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr12:11150319T>C	ENST00000538986.1	-	1	155	c.156A>G	c.(154-156)gcA>gcG	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	52					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTCTGGAGACTGCCAGAGCAG	0.343													C|||	2118	0.422923	0.0651	0.3847	5008	,	,		18136	0.755		0.3817	False		,,,				2504	0.6339				p.A52A		.											.	TAS2R20-90	0			c.A156G						.	C		433,3971	729.6+/-410.1	18,397,1787	40	46	44		156	-5.5	0	12	dbSNP_120	44	3001,5597	650.8+/-400.8	539,1923,1837	no	coding-synonymous	TAS2R20	NM_176889.2		557,2320,3624	CC,CT,TT		34.9035,9.832,26.4113		52/310	11150319	3434,9568	2202	4299	6501	SO:0001819	synonymous_variant	259295	exon1			GGAGACTGCCAGA	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.156A>G	12.37:g.11150319T>C		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	143	6	NM_176889	0	0	1	1	0	P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	CCDS8639.1																																																																																			T|0.678;C|0.322		0.343	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		C	11150319	T	C	11150319	2	2	1	1	0	0	0	0	0	0	0	1	15618	1567	55	4		4	TAS2R20	12	11150319	Silent	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	1389910	11150319	122701576	36	36											
SALL2	6297	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21991730	21991730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccccccaggtgcatcCggacatgctgctgcagagtg	13	14	1	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr14:21991730C>T	ENST00000327430.3	-	2	2426	c.2132G>A	c.(2131-2133)cGg>cAg	p.R711Q	SALL2_ENST00000450879.2_Missense_Mutation_p.R574Q|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGTGCATCCGGACATGCTG	0.607																																					p.R711Q		.											.	SALL2-92	0			c.G2132A						.						67	62	64					14																	21991730		2203	4300	6503	SO:0001583	missense	6297	exon2			TGCATCCGGACAT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2132G>A	14.37:g.21991730C>T	ENSP00000333537:p.Arg711Gln	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	114	53	NM_005407	0	0	0	0	0	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.679767|3.679767	0.68042|0.68042	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879	.|T;T	.|0.77877	.|-1.13;-1.13	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.36409	.|N	.|0.002608	D|D	0.84288|0.84288	0.5439|0.5439	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;P	.|0.70935	.|0.971;0.971;0.958;0.904	D|D	0.85926|0.85926	0.1449|0.1449	5|10	.|0.87932	.|D	.|0	-29.9935|-29.9935	15.3161|15.3161	0.74078|0.74078	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|574;574;472;711	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	R|Q	570|711;574	.|ENSP00000333537:R711Q;ENSP00000396773:R574Q	.|ENSP00000333537:R711Q	G|R	-|-	1|2	0|0	SALL2|SALL2	21061570|21061570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.522000|0.522000	0.34438|0.34438	5.912000|5.912000	0.69948|0.69948	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	GGA|CGG	.		0.607	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21991730	C	T	21991730	3	4	1	1	0	0	0	0	1	0	0	0	13856	652	23	1	895	1	SALL2	14	21991730	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		21991730	85357810	37	37											
ABHD4	63874	hgsc.bcm.edu	37	chr14	23078809	23078809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggccggattcctatgtccGagacatggtatgttgcacca	12	11	0	1	rs376211452		TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr14:23078809G>A	ENST00000428304.2	+	6	1002	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	311					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TCCTATGTCCGAGACATGGTA	0.498																																					p.R311Q		.											.	ABHD4-90	0			c.G932A						.						69	63	65					14																	23078809		2203	4300	6503	SO:0001583	missense	63874	exon6			ATGTCCGAGACAT	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.932G>A	14.37:g.23078809G>A	ENSP00000414558:p.Arg311Gln	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_022060	0	0	0	0	0	B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694772	0.48202	.	.	ENSG00000100439	ENST00000428304	T	0.66280	-0.2	5.49	5.49	0.81192	.	0.251787	0.37955	N	0.001862	T	0.43678	0.1258	N	0.17631	0.505	0.33585	D	0.600424	B	0.30114	0.269	B	0.26202	0.067	T	0.54912	-0.8222	10	0.28530	T	0.3	-7.2413	10.3285	0.43807	0.0891:0.0:0.9109:0.0	.	311	Q8TB40	ABHD4_HUMAN	Q	311	ENSP00000414558:R311Q	ENSP00000414558:R311Q	R	+	2	0	ABHD4	22148649	0.999000	0.42202	1.000000	0.80357	0.284000	0.27059	3.013000	0.49582	2.570000	0.86706	0.643000	0.83706	CGA	.		0.498	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			A	23078809	G	A	23078809	3	1	1	1	0	0	0	0	1	0	0	0	84	1058	37	1	954	1	ABHD4	14	23078809	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10	1087079	23078809	84270731	38	38											
PLCB2	5330	broad.mit.edu;bcgsc.ca	37	chr15	40587141	40587141	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggaatgccctcacccatCgtctggaagttgagggcaac	12	12	2	1	rs201613773		TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr15:40587141C>T	ENST00000260402.3	-	18	2151	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	PLCB2_ENST00000456256.2_Silent_p.T634T|PLCB2_ENST00000557821.1_Silent_p.T630T	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	634	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTCACCCATCGTCTGGAAGT	0.587													C|||	1	0.000199681	0	0	5008	,	,		18671	0		0.001	False		,,,				2504	0				p.T634T		.											.	PLCB2-275	0			c.G1902A						.						84	89	88					15																	40587141		2187	4299	6486	SO:0001819	synonymous_variant	5330	exon18			ACCCATCGTCTGG		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1902G>A	15.37:g.40587141C>T		Somatic	95	2		WXS	Illumina GAIIx	Phase_I	92	41	NM_004573	0	0	1	1	0	A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	CCDS42020.1																																																																																			C|1.000;T|0.000		0.587	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			T	40587141	C	T	40587141	2	4	1	1	0	0	0	0	0	0	0	1	12067	871	31	1		1	PLCB2	15	40587141	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		40587141	61944251	39	39											
C15orf27	123591	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	76467904	76467904	+	Frame_Shift_Del	DEL	C	C	-													tgtctctgtcttccagcctaCgtcctgccagtgaagctgga					rs200737085		TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr15:76467904delC	ENST00000388942.3	+	8	933	c.657delC	c.(655-657)tacfs	p.Y219fs	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	219					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTCCAGCCTACGTCCTGCCAG	0.577																																					p.Y219X		.											.	C15orf27-90	0			c.657delC						.						85	72	76					15																	76467904		2197	4294	6491	SO:0001589	frameshift_variant	123591	exon8			AGCCTACGTCCTG	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.657delC	15.37:g.76467904delC	ENSP00000373594:p.Tyr219fs	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	192	76	NM_152335	0	0	0	0	0	Q8N993|Q96LL5	Nonsense_Mutation	DEL	ENST00000388942.3	37	CCDS10289.2																																																																																			.		0.577	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		-	76467904	C	-	76467904	7	5	1	1	0	1	0	1	0	0	0	0	1793	547	19	0	683	0	C15orf27	15	76467904	Frame_Shift_Del	DEL	C	TCGA-OR-A5J1-01A-11D-A29I-10	35880763	76467904	26063488	40	40											
KLHDC4	54758	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	87742934	87742934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtccaggcagtgcaggtCgctgagggtgacctggcggt	18	10	0	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr16:87742934C>T	ENST00000270583.5	-	10	1442	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.D405N|KLHDC4_ENST00000347925.5_Missense_Mutation_p.D431N	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	462										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CAGTGCAGGTCGCTGAGGGTG	0.662																																					p.D462N		.											.	KLHDC4-182	0			c.G1384A						.						86	79	81					16																	87742934		2198	4300	6498	SO:0001583	missense	54758	exon10			GCAGGTCGCTGAG	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1384G>A	16.37:g.87742934C>T	ENSP00000270583:p.Asp462Asn	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	201	53	NM_017566	0	0	49	65	16	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216636	0.95104	.	.	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.69306	-0.39;-0.39;-0.39	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	M	0.82823	2.61	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	0.86120	0.1568	10	0.87932	D	0	-11.1429	17.8669	0.88797	0.0:1.0:0.0:0.0	.	405;431;462	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	N	462;431;405	ENSP00000270583:D462N;ENSP00000325717:D431N;ENSP00000262530:D405N	ENSP00000270583:D462N	D	-	1	0	KLHDC4	86300435	1.000000	0.71417	0.754000	0.31244	0.927000	0.56198	7.192000	0.77771	2.467000	0.83353	0.313000	0.20887	GAC	.		0.662	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		T	87742934	C	T	87742934	3	4	1	1	0	0	0	0	1	0	0	0	8385	884	31	1	186	1	KLHDC4	16	87742934	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		87742934	2611819	41	41											
SCARF1	8578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	1543262	1543262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcacagtatcacaggaCccctgaacacaggtggggca	11	13	2	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr17:1543262C>T	ENST00000263071.4	-	6	1132	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Silent_p.G361G|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	361	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TATCACAGGACCCCTGAACAC	0.647																																					p.G361G		.											.	SCARF1-91	0			c.G1083A						.						70	72	71					17																	1543262		2203	4300	6503	SO:0001819	synonymous_variant	8578	exon6			ACAGGACCCCTGA	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1083G>A	17.37:g.1543262C>T		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	195	64	NM_145350	0	0	1	1	0	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	CCDS11007.1																																																																																			.		0.647	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1543262	C	T	1543262	2	4	1	1	0	0	0	0	0	0	0	1	13928	494	18	3		3	SCARF1	17	1543262	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		1543262	79651948	42	42											
NOL11	25926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	65734087	65734087	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttaaaaattttcttgAggtaagttagactccaatgg	8	6	1	2			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr17:65734087A>C	ENST00000253247.4	+	13	1643	c.1528A>C	c.(1528-1530)Agc>Cgc	p.S510R	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Splice_Site_p.S328R	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	510					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATTTTCTTGAGGTAAGTTAG	0.333																																					p.S510R		.											.	NOL11-90	0			c.A1528C						.						87	91	90					17																	65734087		2203	4300	6503	SO:0001630	splice_region_variant	25926	exon13			TTCTTGAGGTAAG	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1529+1A>C	17.37:g.65734087A>C		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	58	26	NM_015462	0	0	0	1	1	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382066	0.24944	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.48836	0.8	5.11	4.03	0.46877	.	0.042248	0.85682	D	0.000000	T	0.47930	0.1472	M	0.77103	2.36	0.58432	D	0.99999	B	0.15719	0.014	B	0.17433	0.018	T	0.43196	-0.9406	10	0.39692	T	0.17	-2.784	10.1593	0.42842	0.919:0.0:0.081:0.0	.	510	Q9H8H0	NOL11_HUMAN	R	510;328	ENSP00000253247:S510R	ENSP00000253247:S510R	S	+	1	0	NOL11	63164549	1.000000	0.71417	0.990000	0.47175	0.068000	0.16541	4.172000	0.58243	0.888000	0.36160	0.528000	0.53228	AGC	.		0.333	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462	Missense_Mutation	C	65734087	A	C	65734087	5	2	1	1	0	0	0	0	0	0	1	0	10560	318	11	5	1578	5	NOL11	17	65734087	Splice_Site	SNP	A	TCGA-OR-A5J1-01A-11D-A29I-10	64190825	65734087	15461123	43	43											
LAMA3	3909	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	21461949	21461949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaacgctgccaggaggGctactatggcaacgccgtcc	13	13	0	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr18:21461949G>A	ENST00000313654.9	+	40	5403	c.5162G>A	c.(5161-5163)gGc>gAc	p.G1721D	LAMA3_ENST00000587184.1_Missense_Mutation_p.G112D|LAMA3_ENST00000269217.6_Missense_Mutation_p.G112D|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1721D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1721	Domain III A.|Laminin EGF-like 13. {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)					TGCCAGGAGGGCTACTATGGC	0.567																																					p.G1721D		.											.	LAMA3-100	0			c.G5162A	GRCh37	CD951762	LAMA3	D		.						92	69	77					18																	21461949		2203	4299	6502	SO:0001583	missense	3909	exon40			AGGAGGGCTACTA	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.5162G>A	18.37:g.21461949G>A	ENSP00000324532:p.Gly1721Asp	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	189	82	NM_001127717	0	0	0	0	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596456	0.86953	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.66995	-0.24;-0.24;-0.24	5.61	5.61	0.85477	EGF-like, laminin (4);Growth factor, receptor (1);	.	.	.	.	D	0.88325	0.6406	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91575	0.5274	9	0.87932	D	0	.	19.2248	0.93814	0.0:0.0:1.0:0.0	.	112;112;1721;1721	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	D	1721;1721;112	ENSP00000324532:G1721D;ENSP00000382432:G1721D;ENSP00000269217:G112D	ENSP00000269217:G112D	G	+	2	0	LAMA3	19715947	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	8.593000	0.90832	2.660000	0.90430	0.655000	0.94253	GGC	.		0.567	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21461949	G	A	21461949	3	1	1	1	0	0	0	0	1	0	0	0	8635	1203	42	3	5495	3	LAMA3	18	21461949	Missense_Mutation	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		21461949	56615299	44	44											
WDR7	23335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	54348602	54348602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttacaaaattagctTgcacacatactggcatacag	6	8	0	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr18:54348602T>C	ENST00000254442.3	+	4	536	c.325T>C	c.(325-327)Tgc>Cgc	p.C109R	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C109R	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	109					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)		AAAATTAGCTTGCACACATAC	0.308																																					p.C109R		.											.	WDR7-93	0			c.T325C						.						169	161	164					18																	54348602		2203	4300	6503	SO:0001583	missense	23335	exon4			TTAGCTTGCACAC	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.325T>C	18.37:g.54348602T>C	ENSP00000254442:p.Cys109Arg	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	196	49	NM_052834	0	0	1	1	0	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584478	0.46110	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.61274	0.12;0.12	5.65	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.046346	0.85682	D	0.000000	T	0.61324	0.2338	L	0.51422	1.61	0.80722	D	1	P;D	0.60160	0.864;0.987	P;P	0.56278	0.514;0.795	T	0.56463	-0.7975	10	0.13108	T	0.6	.	12.5473	0.56208	0.0:0.0:0.1395:0.8605	.	109;109	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	109	ENSP00000254442:C109R;ENSP00000350187:C109R	ENSP00000254442:C109R	C	+	1	0	WDR7	52499600	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.936000	0.87665	0.952000	0.37798	0.397000	0.26171	TGC	.		0.308	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			C	54348602	T	C	54348602	3	2	1	1	0	0	0	0	1	0	0	0	17369	1812	63	4	335	4	WDR7	18	54348602	Missense_Mutation	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	32886653	54348602	23728646	45	45											
THOP1	7064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	2790453	2790453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcggacgcagcatctccGtgctctgtggtaaacgacct	12	12	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr19:2790453G>A	ENST00000307741.6	+	2	254	c.51G>A	c.(49-51)ccG>ccA	p.P17P		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	17					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCATCTCCGTGCTCTGTGG	0.597																																					p.P17P		.											.	THOP1-92	0			c.G51A						.						101	91	95					19																	2790453		2203	4300	6503	SO:0001819	synonymous_variant	7064	exon2			ATCTCCGTGCTCT		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.51G>A	19.37:g.2790453G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	93	50	NM_003249	0	0	0	1	1	B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	CCDS12095.1																																																																																			.		0.597	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			A	2790453	G	A	2790453	2	1	1	1	0	0	0	0	0	0	0	1	15918	1132	40	1		1	THOP1	19	2790453	Silent	SNP	G	TCGA-OR-A5J1-01A-11D-A29I-10		2790453	56338530	46	46											
ANKRD24	170961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4210319	4210319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggagaggggccgcctcCtgcagaagatccggggcctg	18	12	0	3			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr19:4210319C>T	ENST00000600132.1	+	13	1285	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	ANKRD24_ENST00000262970.5_Silent_p.L427L|RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000318934.4_Silent_p.L337L|ANKRD24_ENST00000595096.1_3'UTR	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	337										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)		GGGCCGCCTCCTGCAGAAGAT	0.627																																					p.L337L		.											.	ANKRD24-68	0			c.C1009T						.						30	45	40					19																	4210319		2030	4157	6187	SO:0001819	synonymous_variant	170961	exon13			CGCCTCCTGCAGA	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.1009C>T	19.37:g.4210319C>T		Somatic	426	0		WXS	Illumina GAIIx	Phase_I	411	171	NM_133475	0	0	1	1	0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			.		0.627	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		T	4210319	C	T	4210319	2	4	1	1	0	0	0	0	0	0	0	1	653	680	24	3		3	ANKRD24	19	4210319	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	1419866	4210319	54918664	47	47											
LYPD3	27076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43968541	43968541	+	Missense_Mutation	SNP	C	C	A													ggcgcgcacttcactgtcttCatcttgttcggggagcatcc							TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr19:43968541C>A	ENST00000244333.3	-	2	235	c.147G>T	c.(145-147)atG>atT	p.M49I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	49	UPAR/Ly6 1.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCACTGTCTTCATCTTGTTCG	0.667																																					p.M49I		.											.	LYPD3-91	0			c.G147T						.						62	50	54					19																	43968541		2203	4300	6503	SO:0001583	missense	27076	exon2			TGTCTTCATCTTG	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.147G>T	19.37:g.43968541C>A	ENSP00000244333:p.Met49Ile	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	207	29	NM_014400	0	0	0	0	0	Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814616	0.32053	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.28255	1.62	4.62	1.05	0.20165	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.638796	0.13866	N	0.357331	T	0.14442	0.0349	N	0.08118	0	0.29336	N	0.866337	B;B	0.14805	0.011;0.011	B;B	0.16722	0.016;0.016	T	0.24764	-1.0151	10	0.27082	T	0.32	.	8.4372	0.32795	0.1575:0.507:0.3356:0.0	.	49;49	B2RBR3;O95274	.;LYPD3_HUMAN	I	49	ENSP00000244333:M49I	ENSP00000244333:M49I	M	-	3	0	LYPD3	48660381	0.847000	0.29606	0.889000	0.34880	0.780000	0.44128	0.357000	0.20199	0.110000	0.17919	0.456000	0.33151	ATG	.		0.667	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		A	43968541	C	A	43968541	3	1	1	1	0	0	0	0	1	0	0	0	9147	826	29	3	909	3	LYPD3	19	43968541	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	39758222	43968541	15160442	48	48	2	2									
LYPD3	27076	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43968550	43968550	+	Silent	SNP	C	C	T													ttcactgtcttcatcttgttCggggagcatccgtcatctgc							TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr19:43968550C>T	ENST00000244333.3	-	2	226	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	46	UPAR/Ly6 1.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCATCTTGTTCGGGGAGCATC	0.662																																					p.P46P		.											.	LYPD3-91	0			c.G138A						.						64	51	56					19																	43968550		2203	4300	6503	SO:0001819	synonymous_variant	27076	exon2			CTTGTTCGGGGAG	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.138G>A	19.37:g.43968550C>T		Somatic	112	1		WXS	Illumina GAIIx	Phase_I	219	29	NM_014400	0	0	0	0	0	Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																			.		0.662	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		T	43968550	C	T	43968550	2	4	1	1	0	0	0	0	0	0	0	1	9147	871	31	1		1	LYPD3	19	43968550	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	9	43968550	15160433	49	49	2	2									
SMOX	54498	hgsc.bcm.edu	37	chr20	4162847	4162847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccctcgggcttcatgCgggttgtggagctgctggcg	15	12	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr20:4162847C>T	ENST00000305958.4	+	5	946	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	SMOX_ENST00000278795.3_Missense_Mutation_p.R241W|SMOX_ENST00000379460.2_Missense_Mutation_p.R241W|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Missense_Mutation_p.R241W	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	241					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GGGCTTCATGCGGGTTGTGGA	0.657																																					p.R241W		.											.	SMOX-153	0			c.C721T						.						35	36	36					20																	4162847		2203	4300	6503	SO:0001583	missense	54498	exon5			TTCATGCGGGTTG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.721C>T	20.37:g.4162847C>T	ENSP00000307252:p.Arg241Trp	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_175839	0	0	0	0	0	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867770	0.51588	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;T	0.92595	-3.07;-3.07;-3.07;-3.07;2.9	5.17	3.19	0.36642	Amine oxidase (1);	0.175907	0.47093	D	0.000259	D	0.92782	0.7705	L	0.56199	1.76	0.36966	D	0.8936	D;D;D;D;D	0.71674	0.99;0.998;0.996;0.991;0.997	P;P;P;B;P	0.56474	0.567;0.799;0.659;0.409;0.711	D	0.93426	0.6781	10	0.66056	D	0.02	-13.4298	12.2078	0.54363	0.3104:0.6896:0.0:0.0	.	218;241;241;241;241	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	W	241;241;241;241;98	ENSP00000344595:R241W;ENSP00000307252:R241W;ENSP00000278795:R241W;ENSP00000368773:R241W;ENSP00000407269:R98W	ENSP00000278795:R241W	R	+	1	2	SMOX	4110847	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.858000	0.48356	0.551000	0.29008	-0.320000	0.08662	CGG	.		0.657	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		T	4162847	C	T	4162847	3	4	1	1	0	0	0	0	1	0	0	0	14848	759	27	1	735	1	SMOX	20	4162847	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		4162847	58862673	50	50											
GPCPD1	56261	broad.mit.edu	37	chr20	5556163	5556163	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtcacaactgtatccTggtaatggcttaataattat	6	7	2	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr20:5556163T>A	ENST00000379019.4	-	10	1109	c.897A>T	c.(895-897)ccA>ccT	p.P299P	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	299					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AACTGTATCCTGGTAATGGCT	0.348																																					p.P299P		.											.	GPCPD1-90	0			c.A897T						.						87	79	81					20																	5556163		2203	4300	6503	SO:0001819	synonymous_variant	56261	exon10			GTATCCTGGTAAT		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.897A>T	20.37:g.5556163T>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	112	6	NM_019593	0	0	5	5	0	D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	CCDS13090.1																																																																																			.		0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5556163	T	A	5556163	2	1	1	1	0	0	0	0	0	0	0	1	6629	1567	55	5		5	GPCPD1	20	5556163	Silent	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	1393316	5556163	57469357	51	51											
RBL1	5933	hgsc.bcm.edu;bcgsc.ca	37	chr20	35696518	35696518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctagcctttctataCgttcacgaaattcttgtggt	6	10	5	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr20:35696518C>T	ENST00000373664.3	-	3	428	c.362G>A	c.(361-363)cGt>cAt	p.R121H	RBL1_ENST00000344359.3_Missense_Mutation_p.R121H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	121					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)			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)				CCTTTCTATACGTTCACGAAA	0.284																																					p.R121H		.											.	RBL1-419	0			c.G362A						.						43	43	43					20																	35696518		2203	4300	6503	SO:0001583	missense	5933	exon3			TCTATACGTTCAC	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.362G>A	20.37:g.35696518C>T	ENSP00000362768:p.Arg121His	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_183404	0	0	0	0	0	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893361	0.91889	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.74737	-0.87;-0.87	5.1	5.1	0.69264	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	D	0.84428	0.5470	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.78314	0.991;0.817	T	0.82810	-0.0273	10	0.37606	T	0.19	-2.577	18.7028	0.91627	0.0:1.0:0.0:0.0	.	121;121	P28749-2;P28749	.;RBL1_HUMAN	H	121	ENSP00000362768:R121H;ENSP00000343646:R121H	ENSP00000343646:R121H	R	-	2	0	RBL1	35129932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.615000	0.83006	2.663000	0.90544	0.591000	0.81541	CGT	.		0.284	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		T	35696518	C	T	35696518	3	4	1	1	0	0	0	0	1	0	0	0	13154	536	19	1	2933	1	RBL1	20	35696518	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	30140355	35696518	27329002	52	52											
ZBP1	81030	broad.mit.edu	37	chr20	56185352	56185352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattctctgggcggcttcccCctcagggtgagttcctggac	13	13	2	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr20:56185352C>A	ENST00000371173.3	-	7	1123	c.946G>T	c.(946-948)Ggg>Tgg	p.G316W	ZBP1_ENST00000340462.4_Missense_Mutation_p.G293W|ZBP1_ENST00000343535.4_Missense_Mutation_p.G316W|ZBP1_ENST00000395822.3_Missense_Mutation_p.G241W	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	316					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCGGCTTCCCCCTCAGGGTGA	0.582																																					p.G316W		.											.	ZBP1-228	0			c.G946T						.						189	204	199					20																	56185352		2203	4300	6503	SO:0001583	missense	81030	exon7			CTTCCCCCTCAGG	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.946G>T	20.37:g.56185352C>A	ENSP00000360215:p.Gly316Trp	Somatic	160	2		WXS	Illumina GAIIx	Phase_I	133	4	NM_030776	0	0	0	0	0	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729552	0.48833	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.15487	2.79;2.42;2.79;2.77	4.03	4.03	0.46877	.	0.343394	0.21366	N	0.075701	T	0.33789	0.0875	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.984	T	0.03374	-1.1043	10	0.87932	D	0	-20.689	12.3898	0.55352	0.0:1.0:0.0:0.0	.	316;241;316	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	W	316;241;293;316;316	ENSP00000360215:G316W;ENSP00000379167:G241W;ENSP00000344954:G293W;ENSP00000340584:G316W	ENSP00000344954:G293W	G	-	1	0	ZBP1	55618758	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	0.984000	0.29565	2.186000	0.69663	0.491000	0.48974	GGG	.		0.582	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56185352	C	A	56185352	3	1	1	1	0	0	0	0	1	0	0	0	17569	623	22	3	351	3	ZBP1	20	56185352	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	20488834	56185352	6840168	53	53											
TNFRSF6B	8771	bcgsc.ca	37	chr20	62328267	62328267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggggagcggctggtgtgCgcccagtgccccccaggcac	16	15	0	0	rs2257440	byFrequency	TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chr20:62328267C>T	ENST00000369996.1	+	1	247	c.147C>T	c.(145-147)tgC>tgT	p.C49C	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R1352C|ARFRP1_ENST00000485858.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.R1352C	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	49					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGCTGGTGTGCGCCCAGTGCC	0.711													C|||	1321	0.263778	0.0242	0.2637	5008	,	,		10794	0.6478		0.2038	False		,,,				2504	0.2536				p.C49C		.											.	TNFRSF6B-651	0			c.C147T						.	C		298,4042		14,270,1886	15	18	17		147	-8.1	0	20	dbSNP_100	17	1903,6643		226,1451,2596	no	coding-synonymous	TNFRSF6B	NM_003823.3		240,1721,4482	TT,TC,CC		22.2677,6.8664,17.0806		49/301	62328267	2201,10685	2170	4273	6443	SO:0001819	synonymous_variant	8771	exon1			GGTGTGCGCCCAG	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.147C>T	20.37:g.62328267C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_003823	0	0	1	1	0		Silent	SNP	ENST00000369996.1	37	CCDS13532.1	623	0.28525641025641024	14	0.028455284552845527	71	0.19613259668508287	371	0.6486013986013986	167	0.22031662269129287	C	9.458	1.092457	0.20471	0.068664	0.222677	ENSG00000258366	ENST00000318100	D	0.83335	-1.71	4.06	-8.12	0.01078	.	4.628610	0.00921	N	0.002584	T	0.00012	0.0000	.	.	.	0.33623	P	0.39491299999999996	.	.	.	.	.	.	T	0.49072	-0.8977	6	0.72032	D	0.01	-21.338	18.8802	0.92353	0.0:0.8572:0.0:0.1428	rs2257440;rs3787087	.	.	.	C	1352	ENSP00000322287:R1352C	ENSP00000322287:R1352C	R	+	1	0	AL353715.1	61798711	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.308000	0.02730	-1.993000	0.00974	-1.327000	0.01280	CGC	C|0.779;T|0.221		0.711	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			T	62328267	C	T	62328267	2	4	1	1	0	0	0	0	0	0	0	1	16345	776	27	1		1	TNFRSF6B	20	62328267	Silent	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10	6142915	62328267	697253	54	54											
BEX5	340542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101409174	101409174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattcaccacctcctaaagCgggggcttcattctgcactg	9	13	3	0			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chrX:101409174C>T	ENST00000543160.1	-	3	365	c.64G>A	c.(64-66)Gct>Act	p.A22T	BEX5_ENST00000484837.1_5'Flank|BEX5_ENST00000333643.3_Missense_Mutation_p.A22T	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CCTCCTAAAGCGGGGGCTTCA	0.473																																					p.A22T		.											.	BEX5-86	0			c.G64A						.						90	89	89					X																	101409174		2203	4300	6503	SO:0001583	missense	340542	exon3			CTAAAGCGGGGGC	BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"NGFRAP1-like 1", "BEX family member 5"	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.64G>A	X.37:g.101409174C>T	ENSP00000446054:p.Ala22Thr	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	31	27	NM_001012978	0	0	7	7	0	Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614175	0.03690	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.09817	2.94;2.94	4.0	0.202	0.15190	.	0.775846	0.10584	N	0.657610	T	0.03095	0.0091	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	10	0.32370	T	0.25	.	0.6749	0.00865	0.2342:0.1888:0.3832:0.1938	.	22	Q5H9J7	BEX5_HUMAN	T	22	ENSP00000446054:A22T;ENSP00000328030:A22T	ENSP00000328030:A22T	A	-	1	0	BEX5	101295830	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.018000	0.13422	-0.087000	0.12528	-2.707000	0.00135	GCT	.		0.473	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335		T	101409174	C	T	101409174	3	4	1	1	0	0	0	0	1	0	0	0	1415	768	27	1	275	1	BEX5	23	101409174	Missense_Mutation	SNP	C	TCGA-OR-A5J1-01A-11D-A29I-10		101409174	53861386	55	55											
F8	2157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	154157135	154157135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttgctttgcccaggTgacttctatttcgggcttat	8	12	1	1			TCGA-OR-A5J1-01A-11D-A29I-10	TCGA-OR-A5J1-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	352062e7-9b06-41cd-880c-38fe268c9bf3	1d288ab9-ab2d-4483-af84-f5d0f5837cda	g.chrX:154157135T>C	ENST00000360256.4	-	14	5130	c.4930A>G	c.(4930-4932)Acc>Gcc	p.T1644A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1644	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.T1644S(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)	TTTGCCCAGGTGACTTCTATT	0.428																																					p.T1644A		.											.	F8-182	2	Substitution - Missense(2)	lung(2)	c.A4930G						.						137	122	127					X																	154157135		2203	4300	6503	SO:0001583	missense	2157	exon14			CCCAGGTGACTTC	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.4930A>G	X.37:g.154157135T>C	ENSP00000353393:p.Thr1644Ala	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	55	5	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	8.226	0.803603	0.16467	.	.	ENSG00000185010	ENST00000360256	D	0.99220	-5.58	5.22	-2.82	0.05787	.	1.329350	0.04612	N	0.400551	D	0.97306	0.9119	L	0.47716	1.5	0.09310	N	1	B	0.22346	0.068	B	0.14023	0.01	D	0.94239	0.7483	10	0.29301	T	0.29	0.4778	7.7142	0.28694	0.0:0.0949:0.5619:0.3433	.	1644	P00451	FA8_HUMAN	A	1644	ENSP00000353393:T1644A	ENSP00000353393:T1644A	T	-	1	0	F8	153810329	0.001000	0.12720	0.002000	0.10522	0.408000	0.30992	0.024000	0.13555	-0.117000	0.11872	0.438000	0.28831	ACC	.		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			C	154157135	T	C	154157135	3	2	1	1	0	0	0	0	1	0	0	0	5366	1696	59	4	2205	4	F8	23	154157135	Missense_Mutation	SNP	T	TCGA-OR-A5J1-01A-11D-A29I-10	52747961	154157135	1113425	56	56											
PTCHD2	57540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11561189	11561189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggacagtgttgctggcGgcactggcccctggcttccc	16	13	0	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:11561189G>A	ENST00000294484.6	+	2	278	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R47Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	47					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)	p.R264Q(1)		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)		TGTTGCTGGCGGCACTGGCCC	0.647																																					p.R47Q		.											.	PTCHD2-209	1	Substitution - Missense(1)	prostate(1)	c.G140A						.						35	42	40					1																	11561189		1898	4099	5997	SO:0001583	missense	57540	exon2			GCTGGCGGCACTG	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.140G>A	1.37:g.11561189G>A	ENSP00000294484:p.Arg47Gln	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	64	57	NM_020780	0	0	0	2	2	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	9.218	1.032547	0.19590	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26373	1.74;1.74	5.5	3.65	0.41850	.	0.272238	0.23910	U	0.043342	T	0.12732	0.0309	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.28011	0.085	T	0.09796	-1.0658	10	0.54805	T	0.06	-28.1166	9.8928	0.41300	0.1564:0.0:0.8436:0.0	.	47	Q9P2K9	PTHD2_HUMAN	Q	47	ENSP00000294484:R47Q;ENSP00000374226:R47Q	ENSP00000294484:R47Q	R	+	2	0	PTCHD2	11483776	0.612000	0.27000	0.277000	0.24703	0.085000	0.17905	2.015000	0.40961	0.707000	0.31934	-0.244000	0.11960	CGG	.		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11561189	G	A	11561189	3	1	2	1	0	0	0	0	1	0	0	0	12775	1116	39	1	142	1	PTCHD2	1	11561189	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		11561189	237689432	1	57											
CYP4A22	284541	bcgsc.ca	37	chr1	47610300	47610301	+	Nonsense_Mutation	DNP	AC	AC	TA													tgtttgagggccacgacaccAcagccagtgggatctcctgg							TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:47610300_47610301AC>TA	ENST00000371891.3	+	8	1007_1008	c.976_977AC>TA	c.(976-978)ACa>TAa	p.T326*	CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.T326*|CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	326						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACGACACCACAGCCAGTGGG	0.584																																					p.T326*	Pancreas(88;1240 1470 2099 14214 37557)	.											.	CYP4A22-139	0			c.C977A						.																																			SO:0001587	stop_gained	284541	exon8			ACACCACAGCCAG		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	Exception_encountered	1.37:g.47610300_47610301delinsTA	ENSP00000360958:p.Thr326*	Somatic	548	0		WXS	Illumina GAIIx	Phase_I	440	0	NM_001010969	0	0	0	0	0	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Nonsense_Mutation	DNP	ENST00000371891.3	37	CCDS30707.1																																																																																			.		0.584	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		TA	47610301	AC	TA	47610300	4	4	2	1	0	0	0	0	0	1	0	0	4193	159	6	5	1006	5	CYP4A22	1	47610300	Nonsense_Mutation	DNP	AC	TCGA-OR-A5J2-01A-11D-A29I-10	36049111	47610300	201640321	2	58											
MRPL37	51253	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	54678298	54678298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcctgtttgcttttggCagtgccctggctcaggcccg	12	12	1	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:54678298C>T	ENST00000360840.5	+	5	1034	c.957C>T	c.(955-957)ggC>ggT	p.G319G	MRPL37_ENST00000336230.6_Silent_p.G188G|MRPL37_ENST00000605337.1_Silent_p.G319G	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	319					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TTGCTTTTGGCAGTGCCCTGG	0.537																																					p.G319G		.											.	MRPL37-90	0			c.C957T						.						131	127	129					1																	54678298		2203	4300	6503	SO:0001819	synonymous_variant	51253	exon5			TTTTGGCAGTGCC	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.957C>T	1.37:g.54678298C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	91	78	NM_016491	0	0	5	45	40	Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	CCDS589.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456811	0.26161	.	.	ENSG00000116221	ENST00000398219	.	.	.	5.39	2.24	0.28232	.	.	.	.	.	T	0.52025	0.1709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41378	-0.9512	4	.	.	.	-9.2912	5.2338	0.15436	0.265:0.5418:0.1219:0.0713	.	.	.	.	V	104	.	.	A	+	2	0	MRPL37	54450886	0.995000	0.38212	0.926000	0.36857	0.974000	0.67602	0.408000	0.21065	0.604000	0.29930	-0.150000	0.13652	GCA	.		0.537	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		T	54678298	C	T	54678298	2	4	2	1	0	0	0	0	0	0	0	1	9838	697	25	3		3	MRPL37	1	54678298	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	7067998	54678298	194572323	3	59											
IGSF3	3321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	117150771	117150771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttcccggtgagcaaattCgctgttgaggacaggcacag	14	10	0	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:117150771C>T	ENST00000369486.3	-	5	1780	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	IGSF3_ENST00000318837.6_Missense_Mutation_p.E339K|IGSF3_ENST00000369483.1_Missense_Mutation_p.E339K	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	339	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAGCAAATTCGCTGTTGAGG	0.567																																					p.E339K		.											.	IGSF3-92	0			c.G1015A						.						43	41	41					1																	117150771		2202	4300	6502	SO:0001583	missense	3321	exon5			CAAATTCGCTGTT	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1015G>A	1.37:g.117150771C>T	ENSP00000358498:p.Glu339Lys	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	162	120	NM_001007237	0	0	0	3	3	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359704	0.82353	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02682	4.2;4.2;4.2	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145920	0.49305	D	0.000144	T	0.02970	0.0088	L	0.27053	0.805	0.46416	D	0.999037	P;P;D	0.53462	0.951;0.956;0.96	P;P;P	0.54431	0.638;0.565;0.752	T	0.60657	-0.7220	10	0.51188	T	0.08	-16.6011	15.4322	0.75108	0.0:1.0:0.0:0.0	.	339;339;339	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	K	339	ENSP00000358498:E339K;ENSP00000358495:E339K;ENSP00000321184:E339K	ENSP00000321184:E339K	E	-	1	0	IGSF3	116952294	1.000000	0.71417	0.308000	0.25141	0.956000	0.61745	5.049000	0.64244	2.571000	0.86741	0.557000	0.71058	GAA	.		0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117150771	C	T	117150771	3	4	2	1	0	0	0	0	1	0	0	0	7628	893	31	1	2661	1	IGSF3	1	117150771	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	62472473	117150771	132099850	4	60											
HRNR	388697	bcgsc.ca	37	chr1	152189038	152189038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagacccatgctgaccAtagcgggaagacgaacgtga	13	11	0	4	rs145118416	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:152189038A>G	ENST00000368801.2	-	3	5142	c.5067T>C	c.(5065-5067)taT>taC	p.Y1689Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1689					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)			CATGCTGACCATAGCGGGAAG	0.617																																					p.Y1689Y		.											.	HRNR-93	0			c.T5067C						.	A		321,2979		2,317,1331	67	73	71		5067	-0.7	0	1	dbSNP_134	71	363,6063		1,361,2851	no	coding-synonymous	HRNR	NM_001009931.1		3,678,4182	GG,GA,AA		5.6489,9.7273,7.0327		1689/2851	152189038	684,9042	1650	3213	4863	SO:0001819	synonymous_variant	388697	exon3			CTGACCATAGCGG	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.5067T>C	1.37:g.152189038A>G		Somatic	272	15		WXS	Illumina GAIIx	Phase_I	157	53	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			A|0.968;G|0.032		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152189038	A	G	152189038	2	3	2	1	0	0	0	0	0	0	0	1	7386	224	8	4		4	HRNR	1	152189038	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	35038267	152189038	97061583	5	61											
CD1A	909	broad.mit.edu	37	chr1	158224501	158224501	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagctgttctcccaggTgatggcaatgcagacggtaa	12	8	1	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:158224501T>G	ENST00000289429.5	+	1	575	c.42T>G	c.(40-42)ggT>ggG	p.G14G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	14					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCTCCCAGGTGATGGCAATG	0.448																																					p.G14G		.											.	CD1A-93	0			c.T42G						.						202	174	183					1																	158224501		2203	4300	6503	SO:0001819	synonymous_variant	909	exon1			CCCAGGTGATGGC	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.42T>G	1.37:g.158224501T>G		Somatic	124	3		WXS	Illumina GAIIx	Phase_I	155	5	NM_001763	0	0	0	0	0	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																			.		0.448	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		G	158224501	T	G	158224501	2	3	2	1	0	0	0	0	0	0	0	1	2981	1683	59	5		5	CD1A	1	158224501	Silent	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	6035463	158224501	91026120	6	62											
NEK2	4751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	211846871	211846871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgtttttgcaaaactcGtgtcatggtttaatattcta	6	6	2	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr1:211846871G>A	ENST00000366999.4	-	3	647	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NEK2_ENST00000540251.1_Missense_Mutation_p.T127M|NEK2_ENST00000366998.3_Missense_Mutation_p.T170M|NEK2_ENST00000462283.1_5'Flank|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TGCAAAACTCGTGTCATGGTT	0.363																																					p.T170M		.											.	NEK2-765	0			c.C509T						.						82	84	83					1																	211846871		2203	4300	6503	SO:0001583	missense	4751	exon3			AAACTCGTGTCAT	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.509C>T	1.37:g.211846871G>A	ENSP00000355966:p.Thr170Met	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	205	43	NM_001204183	0	0	0	0	0	Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306947	0.81247	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.66099	-0.19;-0.19;-0.19	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047778	0.85682	D	0.000000	T	0.66327	0.2778	N	0.21282	0.65	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.987	D;D;P	0.64237	0.911;0.923;0.873	T	0.62105	-0.6924	10	0.23302	T	0.38	.	19.1585	0.93522	0.0:0.0:1.0:0.0	.	170;170;170	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	M	170;127;170	ENSP00000355966:T170M;ENSP00000440237:T127M;ENSP00000355965:T170M	ENSP00000355965:T170M	T	-	2	0	NEK2	209913494	1.000000	0.71417	0.829000	0.32907	0.797000	0.45037	7.552000	0.82192	2.591000	0.87537	0.563000	0.77884	ACG	.		0.363	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		A	211846871	G	A	211846871	3	1	2	1	0	0	0	0	1	0	0	0	10363	1145	40	1	852	1	NEK2	1	211846871	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	53622370	211846871	37403750	7	63											
ATL2	64225	bcgsc.ca;mdanderson.org	37	chr2	38604351	38604351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccgtcgccggcgccAcagcccctggtgcggttgct	15	16	0	0	rs3731847	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:38604351A>G	ENST00000378954.4	-	1	53	c.52T>C	c.(52-54)Tgg>Cgg	p.W18R	ATL2_ENST00000452935.2_5'Flank|ATL2_ENST00000332337.4_5'Flank|ATL2_ENST00000402054.1_5'Flank|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000546051.1_5'Flank|ATL2_ENST00000419554.2_Missense_Mutation_p.W18R|ATL2_ENST00000539122.1_5'UTR	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	18			W -> R (in dbSNP:rs3731847). {ECO:0000269|Ref.1}.		endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CGCCGGCGCCACAGCCCCTGG	0.682													G|||	2472	0.49361	0.82	0.3934	5008	,	,		7916	0.1974		0.4056	False		,,,				2504	0.5194				p.W18R		.											.	ATL2-228	0			c.T52C						.	G	ARG/TRP,ARG/TRP	3238,1160		1209,820,170	18	23	22		52,52	0.4	1	2	dbSNP_107	22	3347,5239		606,2135,1552	no	missense,missense	ATL2	NM_001135673.1,NM_022374.2	101,101	1815,2955,1722	GG,GA,AA		38.9821,26.3756,49.2837	benign,benign	18/584,18/580	38604351	6585,6399	2199	4293	6492	SO:0001583	missense	64225	exon1			GGCGCCACAGCCC		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.52T>C	2.37:g.38604351A>G	ENSP00000368237:p.Trp18Arg	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	116	103	NM_001135673	0	0	0	38	38	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	963	0.4409340659340659	398	0.8089430894308943	148	0.4088397790055249	113	0.19755244755244755	304	0.40105540897097625	G	2.842	-0.240149	0.05944	0.736244	0.389821	ENSG00000119787	ENST00000378954;ENST00000419554;ENST00000449130;ENST00000451483	T;T;D;T	0.84070	-1.19;-1.23;-1.8;2.58	3.78	0.417	0.16421	.	0.332033	0.20851	N	0.084527	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	P	0.9999999999927123	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38650	-0.9651	9	0.20046	T	0.44	-1.5765	0.6089	0.00757	0.2367:0.1829:0.3778:0.2026	rs3731847;rs59791873	18;18	Q8NHH9-2;Q8NHH9	.;ATLA2_HUMAN	R	18	ENSP00000368237:W18R;ENSP00000415336:W18R;ENSP00000409811:W18R;ENSP00000404921:W18R	ENSP00000368237:W18R	W	-	1	0	ATL2	38457855	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	1.309000	0.33539	0.006000	0.14734	-0.755000	0.03482	TGG	A|0.523;G|0.477		0.682	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		G	38604351	A	G	38604351	3	3	2	1	0	0	0	0	1	0	0	0	1108	159	6	4	1863	4	ATL2	2	38604351	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		38604351	204595022	8	64											
C2orf86	51057	broad.mit.edu	37	chr2	63631285	63631285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaacaacctgaggagCtatccattgcatttgaacaa	8	9	0	3	rs61734466	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:63631285C>G	ENST00000272321.7	-	10	1860	c.1333G>C	c.(1333-1335)Gct>Cct	p.A445P	WDPCP_ENST00000409120.1_Missense_Mutation_p.A253P|WDPCP_ENST00000409199.1_Missense_Mutation_p.A253P|WDPCP_ENST00000409562.3_Missense_Mutation_p.A445P|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.A286P	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	445					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						ACCTGAGGAGCTATCCATTGC	0.438													C|||	11	0.00219649	8e-04	0	5008	,	,		18565	0		0.0099	False		,,,				2504	0				p.A445P		.											.	WDPCP-91	0			c.G1333C						.	C	PRO/ALA	6,3816		0,6,1905	102	98	99		1333	4.7	1	2	dbSNP_129	99	81,8185		0,81,4052	yes	missense	WDPCP	NM_015910.5	27	0,87,5957	GG,GC,CC		0.9799,0.157,0.7197	benign	445/747	63631285	87,12001	1911	4133	6044	SO:0001583	missense	51057	exon10			GAGGAGCTATCCA		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.1333G>C	2.37:g.63631285C>G	ENSP00000272321:p.Ala445Pro	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	128	4	NM_015910	0	0	6	6	0	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	C	13.25	2.181795	0.38511	0.00157	0.009799	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.52	4.65	0.58169	.	0.077685	0.53938	D	0.000056	T	0.47488	0.1448	L	0.45137	1.4	0.45025	D	0.998049	B;D;B;B	0.57571	0.015;0.98;0.076;0.012	B;P;B;B	0.58331	0.028;0.837;0.047;0.005	T	0.50676	-0.8800	10	0.38643	T	0.18	-2.9295	14.6453	0.68756	0.0:0.9297:0.0:0.0703	rs61734466	253;445;445;286	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	P	445;253;253;286;445	ENSP00000272321:A445P;ENSP00000386592:A253P;ENSP00000386769:A253P;ENSP00000381552:A286P;ENSP00000387222:A445P	ENSP00000272321:A445P	A	-	1	0	WDPCP	63484789	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	2.209000	0.42806	1.466000	0.48025	0.591000	0.81541	GCT	C|0.975;G|0.025		0.438	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		G	63631285	C	G	63631285	3	3	2	1	0	0	0	0	1	0	0	0	2208	797	28	3	943	3	C2orf86	2	63631285	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	25026934	63631285	179568088	9	65											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_023016	0	0	0	1	1	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	2	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	46740907	110372192	132827181	10	66											
LRP1B	53353	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141298589	141298589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtcccctctgcaggaaCaattcactctcccattggga	8	14	3	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:141298589C>A	ENST00000389484.3	-	45	8437	c.7466G>T	c.(7465-7467)tGt>tTt	p.C2489F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2489	EGF-like 10. {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)		TCTGCAGGAACAATTCACTCT	0.413										TSP Lung(27;0.18)																											p.C2489F	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.G7466T						.						158	146	150					2																	141298589		2203	4300	6503	SO:0001583	missense	53353	exon45			CAGGAACAATTCA	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.7466G>T	2.37:g.141298589C>A	ENSP00000374135:p.Cys2489Phe	Somatic	115	2		WXS	Illumina GAIIx	Phase_I	77	62	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251318	0.80135	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93247	-3.19	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.96142	3.775	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98512	1.0619	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	2489	Q9NZR2	LRP1B_HUMAN	F	2489;2427	ENSP00000374135:C2489F	ENSP00000374135:C2489F	C	-	2	0	LRP1B	141015059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.697000	0.84279	2.814000	0.96858	0.655000	0.94253	TGT	.		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141298589	C	A	141298589	3	1	2	1	0	0	0	0	1	0	0	0	8990	478	17	3	6521	3	LRP1B	2	141298589	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	30926397	141298589	101900784	11	67											
SP5	389058	hgsc.bcm.edu	37	chr2	171573185	171573185	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcaggccgcgctgccGccaggctactccaacctgct	13	18	0	0	rs1134626	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:171573185G>T	ENST00000375281.3	+	2	630	c.468G>T	c.(466-468)ccG>ccT	p.P156P	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	156					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P156P(1)		NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCGCGCTGCCGCCAGGCTACT	0.751													G|||	1034	0.20647	0.0242	0.2017	5008	,	,		6711	0.1815		0.3579	False		,,,				2504	0.3262				p.P156P		.											.	SP5-90	1	Substitution - coding silent(1)	NS(1)	c.G468T						.	G		219,2535		16,187,1174	5	6	6		468	-7.5	0.4	2	dbSNP_86	6	2090,4520		318,1454,1533	no	coding-synonymous	SP5	NM_001003845.2		334,1641,2707	TT,TG,GG		31.6188,7.9521,24.6583		156/399	171573185	2309,7055	1377	3305	4682	SO:0001819	synonymous_variant	389058	exon2			GCTGCCGCCAGGC		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.468G>T	2.37:g.171573185G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001003845	0	0	0	1	1		Silent	SNP	ENST00000375281.3	37	CCDS33322.1																																																																																			G|0.766;T|0.234		0.751	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		T	171573185	G	T	171573185	2	4	2	1	0	0	0	0	0	0	0	1	15012	1074	38	2		2	SP5	2	171573185	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	30274596	171573185	71626188	12	68											
AGXT	189	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241812461	241812461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccccctttacatggaccGgcaaggtaagggtgggctct	13	12	1	0	rs34664134	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr2:241812461G>A	ENST00000307503.3	+	5	977	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	197					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TACATGGACCGGCAAGGTAAG	0.657													A|||	130	0.0259585	0	0	5008	,	,		17204	0.0843		0.001	False		,,,				2504	0.045				p.R197Q		.											.	AGXT-90	0			c.G590A						.	A	GLN/ARG	3,4403	825.4+/-416.5	0,3,2200	71	69	70	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	590	4.1	1	2	dbSNP_126	70	6,8594	818.9+/-406.8	0,6,4294	yes	missense	AGXT	NM_000030.2	43	0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692	benign	197/393	241812461	9,12997	2203	4300	6503	SO:0001583	missense	189	exon5			TGGACCGGCAAGG	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.590G>A	2.37:g.241812461G>A	ENSP00000302620:p.Arg197Gln	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	45	37	NM_000030	0	0	0	0	0	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	51	0.023351648351648352	0	0.0	0	0.0	50	0.08741258741258741	1	0.0013192612137203166	A	9.321	1.058142	0.19987	6.81E-4	6.98E-4	ENSG00000172482	ENST00000307503	D	0.90788	-2.73	4.14	4.14	0.48551	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.536026	0.20684	N	0.087595	T	0.09379	0.0231	N	0.01009	-1.055	0.09310	N	0.999993	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35051	-0.9804	10	0.23302	T	0.38	-17.0156	9.2238	0.37393	0.9108:0.0:0.0892:0.0	rs34664134	197;197	B7Z548;P21549	.;SPYA_HUMAN	Q	197	ENSP00000302620:R197Q	ENSP00000302620:R197Q	R	+	2	0	AGXT	241461134	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.540000	0.53611	0.471000	0.27319	-0.351000	0.07748	CGG	G|0.993;A|0.007		0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		A	241812461	G	A	241812461	3	1	2	1	0	0	0	0	1	0	0	0	404	1116	39	1	608	1	AGXT	2	241812461	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	70239276	241812461	1386912	13	69											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	41266091	41266092	+	Frame_Shift_Ins	INS	-	-	A													tcactggcagcaacagtcttINSacctggactctggaatccat					rs121913416|rs121913417		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:41266091_41266092insA	ENST00000349496.5	+	3	368_369	c.88_89insA	c.(88-90)tacfs	p.Y30fs	CTNNB1_ENST00000453024.1_Frame_Shift_Ins_p.Y23fs|CTNNB1_ENST00000405570.1_Frame_Shift_Ins_p.Y30fs|CTNNB1_ENST00000396183.3_Frame_Shift_Ins_p.Y30fs|CTNNB1_ENST00000396185.3_Frame_Shift_Ins_p.Y30fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	30			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.H24_L31del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.Y30C(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GCAACAGTCTTACCTGGACTCT	0.48		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.Y30_L31delinsX	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	144	Deletion - In frame(117)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(2)|Complex - frameshift(1)|Substitution - Missense(1)	liver(108)|large_intestine(20)|stomach(8)|small_intestine(2)|skin(2)|pancreas(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	c.88_89insA						.																																			SO:0001589	frameshift_variant	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CAGTCTTACCTGG	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.89dupA	3.37:g.41266092_41266092dupA	ENSP00000344456:p.Tyr30fs	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	258	119	NM_001098210	0	0	0	0	0	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	INS	ENST00000349496.5	37	CCDS2694.1																																																																																			.		0.48	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		A	41266092	-	A	41266091	7	5	2	1	0	1	1	0	0	0	0	0	4025	1754	61	0	94	0	CTNNB1	3	41266091	Frame_Shift_Ins	INS	-	TCGA-OR-A5J2-01A-11D-A29I-10		41266091	156756339	14	70											
CDCP1	64866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	45135039	45135039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgagcctgtccttggGcaccagcagcttccaggaga	13	13	0	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:45135039G>A	ENST00000296129.1	-	6	1491	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	453	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTGTCCTTGGGCACCAGCAGC	0.602																																					p.P453S		.											.	CDCP1-117	0			c.C1357T						.						98	91	93					3																	45135039		2203	4300	6503	SO:0001583	missense	64866	exon6			CCTTGGGCACCAG	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1357C>T	3.37:g.45135039G>A	ENSP00000296129:p.Pro453Ser	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	146	69	NM_022842	0	0	0	0	0	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024130	0.75390	.	.	ENSG00000163814	ENST00000296129	T	0.67345	-0.26	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.80854	-0.1196	10	0.62326	D	0.03	.	14.7945	0.69868	0.0:0.0:0.8566:0.1434	.	453	Q9H5V8	CDCP1_HUMAN	S	453	ENSP00000296129:P453S	ENSP00000296129:P453S	P	-	1	0	CDCP1	45110043	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.666000	0.61554	2.771000	0.95319	0.561000	0.74099	CCC	.		0.602	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		A	45135039	G	A	45135039	3	1	2	1	0	0	0	0	1	0	0	0	3100	1203	42	3	1169	3	CDCP1	3	45135039	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	3868948	45135039	152887391	15	71											
FBXW12	285231	bcgsc.ca	37	chr3	48422235	48422235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaccatcagaaggcagtgTtcctctgtctacctttctcc	8	13	4	2	rs6784322	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:48422235T>A	ENST00000296438.5	+	8	1004	c.818T>A	c.(817-819)gTt>gAt	p.V273D	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Missense_Mutation_p.V116D|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000415155.1_Missense_Mutation_p.V203D|FBXW12_ENST00000445170.1_Missense_Mutation_p.V254D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	273			V -> D (in dbSNP:rs6784322). {ECO:0000269|PubMed:15040455, ECO:0000269|PubMed:15489334}.							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGGCAGTGTTCCTCTGTCT	0.488													t|||	1772	0.353834	0.3018	0.3703	5008	,	,		19337	0.3373		0.4702	False		,,,				2504	0.3098				p.V273D		.											.	FBXW12-226	0			c.T818A						.	T	ASP/VAL,ASP/VAL,ASP/VAL	1465,2941	473.0+/-356.5	237,991,975	102	99	100		608,761,818	-6.8	0	3	dbSNP_116	100	4066,4534	558.7+/-387.3	966,2134,1200	yes	missense,missense,missense	FBXW12	NM_001159927.1,NM_001159929.1,NM_207102.2	152,152,152	1203,3125,2175	AA,AT,TT		47.2791,33.2501,42.5265	benign,benign,benign	203/395,254/446,273/465	48422235	5531,7475	2203	4300	6503	SO:0001583	missense	285231	exon8			GCAGTGTTCCTCT	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.818T>A	3.37:g.48422235T>A	ENSP00000296438:p.Val273Asp	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	242	8	NM_207102	0	0	0	0	0	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	803	0.3676739926739927	135	0.27439024390243905	135	0.3729281767955801	186	0.32517482517482516	347	0.4577836411609499	t	8.943	0.966403	0.18659	0.332501	0.472791	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.63096	2.05;-0.02;1.63;3.5	4.38	-6.75	0.01738	Quinoprotein amine dehydrogenase, beta chain-like (1);	1.814540	0.02661	N	0.107520	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B;B;B	0.19817	0.039;0.039;0.023;0.023	B;B;B;B	0.23716	0.048;0.029;0.013;0.021	T	0.13388	-1.0511	9	0.22706	T	0.39	-0.7478	2.7167	0.05189	0.1117:0.1654:0.2368:0.4861	rs6784322;rs56511515;rs6784322	172;254;203;273	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	D	172;273;116;254;203	ENSP00000296438:V273D;ENSP00000413866:V116D;ENSP00000406139:V254D;ENSP00000414683:V203D	ENSP00000296438:V273D	V	+	2	0	FBXW12	48397239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.749000	0.04813	-1.581000	0.01642	-0.821000	0.03111	GTT	T|0.600;A|0.400		0.488	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		A	48422235	T	A	48422235	3	1	2	1	0	0	0	0	1	0	0	0	5787	1725	60	5	881	5	FBXW12	3	48422235	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	3287196	48422235	149600195	16	72											
CNTN3	5067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	74316498	74316498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actttagtgtctgtggcattCcaaacaacatttcctggtgg	9	9	1	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:74316498C>A	ENST00000263665.6	-	20	2763	c.2736G>T	c.(2734-2736)tgG>tgT	p.W912C	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	912	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGTGGCATTCCAAACAACAT	0.378																																					p.W912C		.											.	CNTN3-137	0			c.G2736T						.						140	138	139					3																	74316498		2203	4300	6503	SO:0001583	missense	5067	exon20			GGCATTCCAAACA	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2736G>T	3.37:g.74316498C>A	ENSP00000263665:p.Trp912Cys	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	137	23	NM_020872	0	0	0	0	0	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067064	0.76301	.	.	ENSG00000113805	ENST00000263665	T	0.48836	0.8	5.14	5.14	0.70334	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.060479	0.64402	D	0.000001	T	0.72574	0.3477	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.76077	-0.3091	10	0.49607	T	0.09	.	18.6207	0.91319	0.0:1.0:0.0:0.0	.	912	Q9P232	CNTN3_HUMAN	C	912	ENSP00000263665:W912C	ENSP00000263665:W912C	W	-	3	0	CNTN3	74399188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.185000	0.77714	2.374000	0.81015	0.655000	0.94253	TGG	.		0.378	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		A	74316498	C	A	74316498	3	1	2	1	0	0	0	0	1	0	0	0	3649	856	30	3	362	3	CNTN3	3	74316498	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	25894263	74316498	123705932	17	73											
PARP14	54625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	122418659	122418659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaaaatgatgtgaaagatGacaggattttgattgagttt	10	1	0	6			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:122418659G>A	ENST00000474629.2	+	6	1524	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGAAAGATGACAGGATTTT	0.378																																					p.D420N		.											.	PARP14-525	0			c.G1258A						.						128	123	125					3																	122418659		1893	4116	6009	SO:0001583	missense	54625	exon6			AAAGATGACAGGA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1258G>A	3.37:g.122418659G>A	ENSP00000418194:p.Asp420Asn	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	176	28	NM_017554	0	0	3	4	1	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325534	0.41197	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.11277	2.79	5.19	2.36	0.29203	.	0.512963	0.18630	N	0.135619	T	0.10937	0.0267	M	0.65975	2.015	0.18873	N	0.999984	B;P	0.37441	0.169;0.595	B;B	0.31016	0.063;0.123	T	0.13656	-1.0501	10	0.41790	T	0.15	.	9.2246	0.37398	0.304:0.0:0.696:0.0	.	420;420	Q460N5-4;Q460N5	.;PAR14_HUMAN	N	420;339	ENSP00000418194:D420N	ENSP00000381228:D339N	D	+	1	0	PARP14	123901349	0.098000	0.21812	0.300000	0.25030	0.353000	0.29299	1.113000	0.31184	0.758000	0.33059	0.563000	0.77884	GAC	.		0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		A	122418659	G	A	122418659	3	1	2	1	0	0	0	0	1	0	0	0	11497	1290	45	3	1280	3	PARP14	3	122418659	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	48102161	122418659	75603771	18	74											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	2	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	213237	122631896	75390534	19	75											
CLDN1	9076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	190030751	190030751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatacacttcatgccaaCggtggccacaaagattgcta	7	12	2	1	rs373107390		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr3:190030751C>T	ENST00000295522.3	-	2	566	c.298G>A	c.(298-300)Gtt>Att	p.V100I		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	100					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)		TTCATGCCAACGGTGGCCACA	0.483																																					p.V100I		.											.	CLDN1-91	0			c.G298A						.	C	ILE/VAL	0,4406		0,0,2203	258	230	239		298	-7	0	3		239	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLDN1	NM_021101.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/212	190030751	1,13005	2203	4300	6503	SO:0001583	missense	9076	exon2			TGCCAACGGTGGC	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.298G>A	3.37:g.190030751C>T	ENSP00000295522:p.Val100Ile	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	235	44	NM_021101	0	0	160	181	21		Missense_Mutation	SNP	ENST00000295522.3	37	CCDS3295.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420567	0.42918	0.0	1.16E-4	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.88354	-2.37	6.04	-6.98	0.01611	.	0.758950	0.13104	N	0.413538	T	0.79341	0.4429	L	0.37507	1.11	0.24052	N	0.996048	B	0.27951	0.195	B	0.25884	0.064	T	0.61501	-0.7050	10	0.36615	T	0.2	.	11.4508	0.50151	0.0906:0.2615:0.0:0.6479	.	100	O95832	CLD1_HUMAN	I	100;55	ENSP00000295522:V100I	ENSP00000295522:V100I	V	-	1	0	CLDN1	191513445	0.000000	0.05858	0.002000	0.10522	0.979000	0.70002	-3.235000	0.00546	-1.685000	0.01441	-0.367000	0.07326	GTT	.		0.483	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		T	190030751	C	T	190030751	3	4	2	1	0	0	0	0	1	0	0	0	3478	536	19	1	349	1	CLDN1	3	190030751	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	67398855	190030751	7991679	20	76											
DSPP	1834	bcgsc.ca	37	chr4	88536999	88536999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatagcagtgacagcagtgAcagcagcgacagcagtgata	12	9	0	3	rs202222170		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr4:88536999A>G	ENST00000282478.7	+	4	3218	c.3185A>G	c.(3184-3186)gAc>gGc	p.D1062G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1062G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1062	Asp/Ser-rich.			D -> G (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagtgacagcagcgac	0.532																																					p.D1062G		.											.	DSPP-90	0			c.A3185G						.						48	61	56					4																	88536999		1554	2803	4357	SO:0001583	missense	1834	exon5			GCAGTGACAGCAG	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.3185A>G	4.37:g.88536999A>G	ENSP00000282478:p.Asp1062Gly	Somatic	354	0		WXS	Illumina GAIIx	Phase_I	276	16	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503863	0.12822	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	1.51	1.51	0.23008	.	.	.	.	.	D	0.87716	0.6247	L	0.29908	0.895	0.21762	N	0.99955	D	0.76494	0.999	D	0.74023	0.982	T	0.76072	-0.3093	9	0.24483	T	0.36	.	5.1866	0.15187	1.0:0.0:0.0:0.0	.	1062	Q9NZW4	DSPP_HUMAN	G	1062	ENSP00000382213:D1062G;ENSP00000282478:D1062G	ENSP00000282478:D1062G	D	+	2	0	DSPP	88756023	0.386000	0.25180	0.936000	0.37596	0.006000	0.05464	2.307000	0.43682	0.963000	0.38082	0.242000	0.17961	GAC	.		0.532	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88536999	A	G	88536999	3	3	2	1	0	0	0	0	1	0	0	0	4796	275	10	4	3199	4	DSPP	4	88536999	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		88536999	102617277	21	77											
SMAD1	4086	broad.mit.edu	37	chr4	146435774	146435774	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgctgtcattatgaatgtGacaagtttattttcctttac	7	6	1	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr4:146435774G>A	ENST00000515385.1	+	2	551	c.9G>A	c.(7-9)gtG>gtA	p.V3V	SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000302085.4_Silent_p.V3V|SMAD1_ENST00000394092.2_Silent_p.V3V|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	3			V -> A (found in a patient with primary pulmonary hypertension; unknown pathological significance; affects SMAD- mediated signaling). {ECO:0000269|PubMed:21898662}.		BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|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)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|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)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTATGAATGTGACAAGTTTAT	0.388																																					p.V3V	Pancreas(182;1287 2092 10326 35158 50562)	.											.	SMAD1-415	0			c.G9A						.						94	90	91					4																	146435774		2203	4300	6503	SO:0001819	synonymous_variant	4086	exon2			GAATGTGACAAGT	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.9G>A	4.37:g.146435774G>A		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	121	5	NM_005900	0	0	9	9	0	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	ENST00000515385.1	37	CCDS3765.1																																																																																			.		0.388	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		A	146435774	G	A	146435774	2	1	2	1	0	0	0	0	0	0	0	1	14802	1277	45	3		3	SMAD1	4	146435774	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	57898775	146435774	44718502	22	78											
FAT1	2195	broad.mit.edu	37	chr4	187522507	187522507	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcctcatggtcagtttcatCtctaatttgttttcattttc	5	9	5	0	rs202035728		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr4:187522507C>G	ENST00000441802.2	-	21	11765	c.11556G>C	c.(11554-11556)gaG>gaC	p.E3852D	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3852	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TCAGTTTCATCTCTAATTTGT	0.423										HNSCC(5;0.00058)																											p.E3852D	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G11556C						.	C	ASP/GLU	1,3837		0,1,1918	154	153	153		11556	4.4	1	4		153	4,8244		0,4,4120	yes	missense	FAT1	NM_005245.3	45	0,5,6038	GG,GC,CC		0.0485,0.0261,0.0414	benign	3852/4589	187522507	5,12081	1919	4124	6043	SO:0001583	missense	2195	exon21			TTTCATCTCTAAT	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.11556G>C	4.37:g.187522507C>G	ENSP00000406229:p.Glu3852Asp	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	97	4	NM_005245	0	0	25	25	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423641	0.43020	2.61E-4	4.85E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.68624	-0.34	5.5	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.116944	0.56097	D	0.000036	T	0.59155	0.2173	L	0.47716	1.5	0.48288	D	0.999625	D	0.56287	0.975	P	0.49799	0.622	T	0.56062	-0.8041	10	0.21014	T	0.42	.	4.0431	0.09760	0.0:0.6803:0.0:0.3197	.	3852	Q14517	FAT1_HUMAN	D	3852;3854	ENSP00000406229:E3852D	ENSP00000260147:E3854D	E	-	3	2	FAT1	187759501	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	1.894000	0.39768	2.758000	0.94735	0.563000	0.77884	GAG	.		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187522507	C	G	187522507	3	3	2	1	0	0	0	0	1	0	0	0	5711	912	32	3	2238	3	FAT1	4	187522507	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	41086733	187522507	3631769	23	79											
PAPD7	11044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	6753081	6753081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctttgaaagccgtccaCcacatgtcttccccggccat	8	16	2	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr5:6753081C>T	ENST00000230859.6	+	12	1494	c.1365C>T	c.(1363-1365)caC>caT	p.H455H		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	685	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGCCGTCCACCACATGTCTT	0.552																																					p.H455H	NSCLC(7;212 333 5667 23379 46547)	.											.	PAPD7-69	0			c.C1365T						.						162	147	152					5																	6753081		2203	4300	6503	SO:0001819	synonymous_variant	11044	exon12			CGTCCACCACATG	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1365C>T	5.37:g.6753081C>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	99	81	NM_001171805	0	0	1	19	18	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	CCDS3871.1																																																																																			.		0.552	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		T	6753081	C	T	6753081	2	4	2	1	0	0	0	0	0	0	0	1	11465	506	18	3		3	PAPD7	5	6753081	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		6753081	174162179	24	80											
ADCY2	108	bcgsc.ca	37	chr5	7520881	7520881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcatcatcttcgtgGtgtacaccatgctgcccttc	6	15	4	0	rs13166360	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr5:7520881G>T	ENST00000338316.4	+	3	528	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	147			V -> L (in dbSNP:rs13166360). {ECO:0000269|PubMed:15489334}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCTTCGTGGTGTACACCAT	0.507													G|||	459	0.0916534	0.0545	0.0994	5008	,	,		21118	0		0.2117	False		,,,				2504	0.1074				p.V147L		.											.	ADCY2-97	0			c.G439T						.	G	LEU/VAL	390,4016	194.7+/-219.5	22,346,1835	179	124	143		439	5.4	1	5	dbSNP_121	143	2139,6461	367.0+/-334.5	269,1601,2430	yes	missense	ADCY2	NM_020546.2	32	291,1947,4265	TT,TG,GG		24.8721,8.8516,19.4449	possibly-damaging	147/1092	7520881	2529,10477	2203	4300	6503	SO:0001583	missense	108	exon3			TTCGTGGTGTACA	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.439G>T	5.37:g.7520881G>T	ENSP00000342952:p.Val147Leu	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_020546	0	0	1	1	0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	236	0.10805860805860806	30	0.06097560975609756	41	0.1132596685082873	0	0.0	165	0.21767810026385223	G	20.9	4.072518	0.76415	0.088516	0.248721	ENSG00000078295	ENST00000338316	T	0.76186	-1.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.64997	1.995	0.09310	P	1.0	P	0.37525	0.598	B	0.37888	0.26	T	0.01652	-1.1303	9	0.54805	T	0.06	.	16.4516	0.83993	0.0:0.0:1.0:0.0	rs13166360;rs17826984;rs60134556;rs13166360	147	Q08462	ADCY2_HUMAN	L	147	ENSP00000342952:V147L	ENSP00000342952:V147L	V	+	1	0	ADCY2	7573881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	2.545000	0.85829	0.650000	0.86243	GTG	G|0.850;T|0.150		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7520881	G	T	7520881	3	4	2	1	0	0	0	0	1	0	0	0	294	1261	44	3	449	3	ADCY2	5	7520881	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	767800	7520881	173394379	25	81											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736327	140736327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatatgctctttgctccttCgactatgagcagtttagaga	8	9	1	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr5:140736327C>T	ENST00000571252.1	+	1	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	520	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)			TTTGCTCCTTCGACTATGAGC	0.527																																					p.F520F		.											.	.	0			c.C1560T						.						130	138	135					5																	140736327		2112	4265	6377	SO:0001819	synonymous_variant	56111	exon1			CTCCTTCGACTAT	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.1560C>T	5.37:g.140736327C>T		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	110	4	NM_018917	0	0	8	8	0	Q9Y5D3	Silent	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																			.		0.527	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736327	C	T	140736327	2	4	2	1	0	0	0	0	0	0	0	1	11595	883	31	1		1	PCDHGA4	5	140736327	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	133215446	140736327	40178933	26	82											
RNF39	80352	hgsc.bcm.edu	37	chr6	30039364	30039364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgaagcgcttggggcCgtcagggggcgcgggcgtcc	19	12	1	1	rs11753382	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:30039364C>A	ENST00000244360.6	-	4	884	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	RNF39_ENST00000376751.3_Missense_Mutation_p.G263C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	263	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGCTTGGGGCCGTCAGGGGGC	0.741													c|||	749	0.149561	0.2489	0.134	5008	,	,		10967	0.1528		0.0447	False		,,,				2504	0.1309				p.G263C	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.G787T						.		CYS/GLY,CYS/GLY	414,2026		21,372,827	3	2	2		787,787	0.5	0.1	6	dbSNP_120	2	229,4029		6,217,1906	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	159,159	27,589,2733	AA,AC,CC		5.3781,16.9672,9.5999	benign,benign	263/421,263/355	30039364	643,6055	1220	2129	3349	SO:0001583	missense	80352	exon4			TGGGGCCGTCAGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.787G>T	6.37:g.30039364C>A	ENSP00000244360:p.Gly263Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_025236	0	0	0	2	2	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	299	0.13690476190476192	120	0.24390243902439024	56	0.15469613259668508	90	0.15734265734265734	33	0.04353562005277045	c	11.55	1.672102	0.29693	0.169672	0.053781	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10382	2.88;2.88	4.7	0.543	0.17179	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.296117	0.23738	N	0.045041	T	0.03348	0.0097	N	0.19112	0.55	0.48696	P	3.009999999999957E-4	B;P	0.48407	0.06;0.91	B;P	0.47626	0.092;0.552	T	0.41305	-0.9516	9	0.56958	D	0.05	-19.3451	7.7639	0.28968	0.0:0.4441:0.0:0.5559	rs11753382	263;263	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	263	ENSP00000365942:G263C;ENSP00000244360:G263C	ENSP00000244360:G263C	G	-	1	0	RNF39	30147343	0.003000	0.15002	0.059000	0.19551	0.050000	0.14768	0.158000	0.16422	-0.104000	0.12154	0.466000	0.42574	GGC	C|0.862;A|0.138		0.741	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		A	30039364	C	A	30039364	3	1	2	1	0	0	0	0	1	0	0	0	13536	652	23	2	479	2	RNF39	6	30039364	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		30039364	141075703	27	83											
NFKBIE	4794	hgsc.bcm.edu	37	chr6	44233372	44233372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcacgcggatggccccGccccctccccgcccccggcg	11	25	1	0	rs189481001	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:44233372G>A	ENST00000275015.5	-	1	128	c.129C>T	c.(127-129)ggC>ggT	p.G43G		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	43					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATggccccgccccctcccc	0.741													G|||	11	0.00219649	8e-04	0.0014	5008	,	,		6411	0		0.0089	False		,,,				2504	0				p.G43G		.											.	NFKBIE-135	0			c.C129T						.	G		4,2954		0,4,1475	2	2	2		129	3.9	1	6		2	25,5827		0,25,2901	no	coding-synonymous	NFKBIE	NM_004556.2		0,29,4376	AA,AG,GG		0.4272,0.1352,0.3292		43/501	44233372	29,8781	1479	2926	4405	SO:0001819	synonymous_variant	4794	exon1			GGCCCCGCCCCCT	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.129C>T	6.37:g.44233372G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_004556	0	0	0	0	0	Q5T9V9	Silent	SNP	ENST00000275015.5	37	CCDS34463.1																																																																																			G|0.995;A|0.005		0.741	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			A	44233372	G	A	44233372	2	1	2	1	0	0	0	0	0	0	0	1	10419	1074	38	1		1	NFKBIE	6	44233372	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	14194008	44233372	126881695	28	84											
TRAM2	9697	hgsc.bcm.edu	37	chr6	52380882	52380882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagattcattgaacttgctGtgtttgactttggagagatg	11	6	1	4			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:52380882G>T	ENST00000182527.3	-	4	332	c.333C>A	c.(331-333)caC>caA	p.H111Q	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	111					collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGAACTTGCTGTGTTTGACTT	0.423																																					p.H111Q		.											.	TRAM2-90	0			c.C333A						.						179	168	172					6																	52380882		2203	4300	6503	SO:0001583	missense	9697	exon4			CTTGCTGTGTTTG	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.333C>A	6.37:g.52380882G>T	ENSP00000182527:p.His111Gln	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_012288	0	0	11	11	0	A8K6T6	Missense_Mutation	SNP	ENST00000182527.3	37	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889326	0.33348	.	.	ENSG00000065308	ENST00000182527	.	.	.	5.47	4.6	0.57074	TRAM1-like protein (1);	0.141037	0.64402	D	0.000005	T	0.18964	0.0455	N	0.14661	0.345	0.47065	D	0.999301	B	0.14438	0.01	B	0.15052	0.012	T	0.09207	-1.0685	9	0.17832	T	0.49	.	9.518	0.39117	0.0759:0.1428:0.7814:0.0	.	111	Q15035	TRAM2_HUMAN	Q	111	.	ENSP00000182527:H111Q	H	-	3	2	TRAM2	52488841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.063000	0.49978	1.291000	0.44653	0.655000	0.94253	CAC	.		0.423	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		T	52380882	G	T	52380882	3	4	2	1	0	0	0	0	1	0	0	0	16501	1368	48	3	811	3	TRAM2	6	52380882	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	8147510	52380882	118734185	29	85											
COL21A1	81578	bcgsc.ca	37	chr6	56044578	56044578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacgtcatcttgggaTttgccatccgtaagtaccac	8	12	2	1	rs2038149	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:56044578T>C	ENST00000244728.5	-	3	835	c.438A>G	c.(436-438)aaA>aaG	p.K146K	COL21A1_ENST00000535941.1_Silent_p.K146K|COL21A1_ENST00000370819.1_Silent_p.K146K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	146	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(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)			CATCTTGGGATTTGCCATCCG	0.438													T|||	3460	0.690895	0.6225	0.5677	5008	,	,		21148	0.8631		0.6272	False		,,,				2504	0.7587				p.K146K		.											.	COL21A1-24	0			c.A438G						.	T		2568,1448		815,938,255	100	95	97		438	4.8	1	6	dbSNP_94	97	5406,2944		1767,1872,536	no	coding-synonymous	COL21A1	NM_030820.3		2582,2810,791	CC,CT,TT		35.2575,36.0558,35.5167		146/958	56044578	7974,4392	2008	4175	6183	SO:0001819	synonymous_variant	81578	exon3			TTGGGATTTGCCA	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.438A>G	6.37:g.56044578T>C		Somatic	270	1		WXS	Illumina GAIIx	Phase_I	217	7	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																			T|0.330;C|0.670		0.438	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			C	56044578	T	C	56044578	2	2	2	1	0	0	0	0	0	0	0	1	3687	1490	52	4		4	COL21A1	6	56044578	Silent	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	3663696	56044578	115070489	30	86											
EEF1A1	1915	bcgsc.ca	37	chr6	74227973	74227973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttatttggcctggatgGttcaggataatcaccttgga	12	8	2	0	rs190893068		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:74227973G>T	ENST00000316292.9	-	6	2035	c.1044C>A	c.(1042-1044)aaC>aaA	p.N348K	EEF1A1_ENST00000331523.2_Missense_Mutation_p.N348K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.N348K|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	348					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						GGCCTGGATGGTTCAGGATAA	0.423																																					p.N348K		.											.	EEF1A1-226	0			c.C1044A						.						45	49	47					6																	74227973		2199	4298	6497	SO:0001583	missense	1915	exon7			TGGATGGTTCAGG	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.1044C>A	6.37:g.74227973G>T	ENSP00000339063:p.Asn348Lys	Somatic	249	5		WXS	Illumina GAIIx	Phase_I	233	14	NM_001402	5	4	16376	16393	8	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319688	0.41096	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.43688	0.94;0.94;0.94	4.71	3.84	0.44239	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.52354	0.1729	H	0.98866	4.355	0.80722	D	1	B;B;B	0.26483	0.027;0.027;0.15	B;B;B	0.30316	0.074;0.074;0.114	T	0.65533	-0.6145	10	0.87932	D	0	.	13.2814	0.60216	0.0779:0.0:0.9221:0.0	.	348;348;348	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	K	348;346;348;348;327	ENSP00000339063:N348K;ENSP00000339053:N348K;ENSP00000330054:N348K	ENSP00000339053:N348K	N	-	3	2	EEF1A1	74284694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.738000	0.55067	1.107000	0.41642	0.556000	0.70494	AAC	G|0.999;T|0.001		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74227973	G	T	74227973	3	4	2	1	0	0	0	0	1	0	0	0	4937	1252	44	3	352	3	EEF1A1	6	74227973	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	18183395	74227973	96887094	31	87											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	2	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	25055403	99283376	71831691	32	88											
HIVEP2	3097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	143095218	143095218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaaaccacaaggtaTacatggatatggccgctccc	10	10	0	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:143095218T>C	ENST00000367604.1	-	4	1297	c.658A>G	c.(658-660)Ata>Gta	p.I220V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.I220V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.I220V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CCACAAGGTATACATGGATAT	0.458																																					p.I220V	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2-95	0			c.A658G						.						116	114	115					6																	143095218		1925	4145	6070	SO:0001583	missense	3097	exon5			AAGGTATACATGG	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.658A>G	6.37:g.143095218T>C	ENSP00000356576:p.Ile220Val	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	118	82	NM_006734	0	0	0	1	1	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	1.772	-0.484010	0.04383	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.17691	2.26;2.26;2.26	5.98	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215030	0.47093	N	0.000259	T	0.01523	0.0049	N	0.05510	-0.035	0.25137	N	0.990525	B	0.02656	0.0	B	0.08055	0.003	T	0.47235	-0.9133	10	0.05620	T	0.96	-14.6477	6.265	0.20922	0.0:0.5315:0.0:0.4685	.	220	P31629	ZEP2_HUMAN	V	220	ENSP00000356576:I220V;ENSP00000356575:I220V;ENSP00000012134:I220V	ENSP00000012134:I220V	I	-	1	0	HIVEP2	143136911	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.715000	0.47210	0.517000	0.28361	0.533000	0.62120	ATA	.		0.458	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			C	143095218	T	C	143095218	3	2	2	1	0	0	0	0	1	0	0	0	7214	1406	49	4	6706	4	HIVEP2	6	143095218	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	43811842	143095218	28019849	33	89											
SASH1	23328	bcgsc.ca	37	chr6	148792617	148792617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaagaaccagaaaggAataatgagacagacttcaaa	8	7	1	4	rs1883625	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr6:148792617A>G	ENST00000367467.3	+	6	967	c.492A>G	c.(490-492)ggA>ggG	p.G164G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	164					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCAGAAAGGAATAATGAGAC	0.368													A|||	1088	0.217252	0.4017	0.0965	5008	,	,		16207	0.1389		0.1402	False		,,,				2504	0.2137				p.G164G		.											.	SASH1-90	0			c.A492G						.	A		1511,2895	476.4+/-357.6	250,1011,942	58	57	58		492	3.3	1	6	dbSNP_92	58	1022,7578	213.5+/-253.4	56,910,3334	no	coding-synonymous	SASH1	NM_015278.3		306,1921,4276	GG,GA,AA		11.8837,34.2941,19.4756		164/1248	148792617	2533,10473	2203	4300	6503	SO:0001819	synonymous_variant	23328	exon6			GAAAGGAATAATG	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.492A>G	6.37:g.148792617A>G		Somatic	257	1		WXS	Illumina GAIIx	Phase_I	246	7	NM_015278	0	0	5	5	0	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																			A|0.811;G|0.189		0.368	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		G	148792617	A	G	148792617	2	3	2	1	0	0	0	0	0	0	0	1	13893	233	9	4		4	SASH1	6	148792617	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	5697399	148792617	22322450	34	90											
PION	54103	broad.mit.edu	37	chr7	77011934	77011934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggttctctggaagaggAtgactttcaatatgtgggta	13	4	2	3	rs386714856|rs112297229	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:77011934A>G	ENST00000257626.7	-	7	561	c.483T>C	c.(481-483)caT>caC	p.H161H		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	161					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CTGGAAGAGGATGACTTTCAA	0.338																																					p.H161H		.											.	PION-514	0			c.T483C						.						87	82	84					7																	77011934		1831	4081	5912	SO:0001819	synonymous_variant	54103	exon7			AAGAGGATGACTT		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.483T>C	7.37:g.77011934A>G		Somatic	96	1		WXS	Illumina GAIIx	Phase_I	121	4	NM_017439	0	0	4	4	0	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																			A|0.999;T|0.001		0.338	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		G	77011934	A	G	77011934	2	3	2	1	0	0	0	0	0	0	0	1	11973	330	12	4		4	PION	7	77011934	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		77011934	82126729	35	91											
SEMA3E	9723	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	83032010	83032010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtggtattcaggtccttCcttatgtgcatatggtccgt	10	10	1	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:83032010C>T	ENST00000307792.3	-	10	1548	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E301K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	361	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCAGGTCCTTCCTTATGTGCA	0.368																																					p.E361K		.											.	SEMA3E-93	0			c.G1081A						.						99	88	92					7																	83032010		2203	4300	6503	SO:0001583	missense	9723	exon10			GTCCTTCCTTATG	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1081G>A	7.37:g.83032010C>T	ENSP00000303212:p.Glu361Lys	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	169	25	NM_012431	0	0	0	0	0	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596468	0.96602	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.12255	2.7;2.7	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.00855	-1.1539	10	0.46703	T	0.11	.	19.1854	0.93641	0.0:1.0:0.0:0.0	.	361	O15041	SEM3E_HUMAN	K	361;301;361	ENSP00000303212:E361K;ENSP00000405052:E301K	ENSP00000303212:E361K	E	-	1	0	SEMA3E	82869946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.536000	0.85505	0.585000	0.79938	GAA	.		0.368	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		T	83032010	C	T	83032010	3	4	2	1	0	0	0	0	1	0	0	0	14073	864	30	3	1278	3	SEMA3E	7	83032010	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	6020076	83032010	76106653	36	92											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757680	99757680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattcctcttggtcttggggGctcaatccactccgaagtat	9	12	3	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:99757680G>T	ENST00000360039.4	-	4	1724	c.1332C>A	c.(1330-1332)agC>agA	p.S444R	C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S382R|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S444R	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	444					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCTTGGGGGCTCAATCCAC	0.562																																					p.S444R		.											.	GAL3ST4-47	0			c.C1332A						.						99	84	89					7																	99757680		2203	4300	6503	SO:0001583	missense	79690	exon4			TTGGGGGCTCAAT	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1332C>A	7.37:g.99757680G>T	ENSP00000353142:p.Ser444Arg	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	123	10	NM_024637	0	0	0	0	0	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.189969	0.21954	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.14022	2.54;2.54;2.54	5.92	5.04	0.67666	.	0.396572	0.24506	U	0.037935	T	0.17023	0.0409	L	0.29908	0.895	0.29294	N	0.869174	D;B	0.54772	0.968;0.099	P;B	0.56960	0.81;0.035	T	0.05435	-1.0885	10	0.23891	T	0.37	-5.8643	8.1364	0.31056	0.0795:0.0:0.7656:0.1549	.	382;444	B4DWL8;Q96RP7	.;G3ST4_HUMAN	R	444;444;382	ENSP00000400451:S444R;ENSP00000353142:S444R;ENSP00000398304:S382R	ENSP00000353142:S444R	S	-	3	2	GAL3ST4	99595616	0.904000	0.30761	0.990000	0.47175	0.703000	0.40648	2.094000	0.41719	1.517000	0.48917	0.561000	0.74099	AGC	.		0.562	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		T	99757680	G	T	99757680	3	4	2	1	0	0	0	0	1	0	0	0	6225	1194	42	3	132	3	GAL3ST4	7	99757680	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	16725670	99757680	59380983	37	93											
SPDYE3	441272	bcgsc.ca	37	chr7	99917416	99917416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcttgggtttccccGgaggagttggaggaggtggg	21	6	0	0	rs112622797	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:99917416G>A	ENST00000332397.6	+	9	1759	c.1575G>A	c.(1573-1575)ccG>ccA	p.P525P	SPDYE3_ENST00000437326.2_Silent_p.P148P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	525										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGGTTTCCCCGGAGGAGTTGG	0.627													.|||	389	0.0776757	0.0136	0.0879	5008	,	,		14174	0.0278		0.174	False		,,,				2504	0.1094				p.P525P		.											.	SPDYE3-22	0			c.G1575A						.	G		184,4222	109.9+/-148.2	4,176,2023	47	56	53		1575	0.2	0	7	dbSNP_132	53	1635,6963	289.3+/-299.2	149,1337,2813	no	coding-synonymous	SPDYE3	NM_001004351.4		153,1513,4836	AA,AG,GG		19.0161,4.1761,13.988		525/550	99917416	1819,11185	2203	4299	6502	SO:0001819	synonymous_variant	441272	exon9			TTCCCCGGAGGAG	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1575G>A	7.37:g.99917416G>A		Somatic	75	1		WXS	Illumina GAIIx	Phase_I	113	7	NM_001004351	0	0	21	32	11	Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	CCDS47658.2																																																																																			G|0.905;A|0.095		0.627	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		A	99917416	G	A	99917416	2	1	2	1	0	0	0	0	0	0	0	1	15077	1103	39	1		1	SPDYE3	7	99917416	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	159736	99917416	59221247	38	94											
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	103276868	103276868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaataaacattgggaatGtctgggatgccatctcacaa	9	8	2	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:103276868G>A	ENST00000428762.1	-	18	2276	c.2117C>T	c.(2116-2118)aCa>aTa	p.T706I	RELN_ENST00000424685.2_Missense_Mutation_p.T706I|RELN_ENST00000343529.5_Missense_Mutation_p.T706I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	706					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)		CATTGGGAATGTCTGGGATGC	0.433																																					p.T706I	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.C2117T						.						50	53	52					7																	103276868		2203	4300	6503	SO:0001583	missense	5649	exon18			GGGAATGTCTGGG		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.2117C>T	7.37:g.103276868G>A	ENSP00000392423:p.Thr706Ile	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	276	45	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550491	0.86127	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23552	1.9;1.9;1.9	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.986	T	0.20638	-1.0269	10	0.46703	T	0.11	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	706;706	P78509-2;P78509	.;RELN_HUMAN	I	706	ENSP00000392423:T706I;ENSP00000345694:T706I;ENSP00000388446:T706I	ENSP00000345694:T706I	T	-	2	0	RELN	103064104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.224000	0.95209	2.721000	0.93114	0.591000	0.81541	ACA	.		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103276868	G	A	103276868	3	1	2	1	0	0	0	0	1	0	0	0	13265	1377	48	3	8457	3	RELN	7	103276868	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	3359452	103276868	55861795	39	95											
PODXL	5420	hgsc.bcm.edu	37	chr7	131241055	131241055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgacggcgacggcgacgAcggcagcagcggcggcgttg	20	13	0	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr7:131241055A>G	ENST00000378555.3	-	1	311	c.64T>C	c.(64-66)Tcg>Ccg	p.S22P	PODXL_ENST00000322985.9_Missense_Mutation_p.S22P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_Missense_Mutation_p.S22P|PODXL_ENST00000537928.1_Missense_Mutation_p.S22P			O00592	PODXL_HUMAN	podocalyxin-like	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					gacggcgacgacggcagcagc	0.741																																					p.S22P		.											.	PODXL-136	0			c.T64C						.						5	8	7					7																	131241055		1914	3836	5750	SO:0001583	missense	5420	exon1			GCGACGACGGCAG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.64T>C	7.37:g.131241055A>G	ENSP00000367817:p.Ser22Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	5	NM_001018111	0	0	10	10	0	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488975	0.26686	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000378555;ENST00000322985	T;T;T;T	0.12774	2.82;2.65;2.82;2.85	.	.	.	.	7739.210000	0.00166	U	0.000000	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	0.999994	.	.	.	.	.	.	T	0.24728	-1.0152	6	0.29301	T	0.29	.	.	.	.	.	22;22	O00592-2;O00592	.;PODXL_HUMAN	P	22	ENSP00000440518:S22P;ENSP00000442655:S22P;ENSP00000367817:S22P;ENSP00000319782:S22P	ENSP00000319782:S22P	S	-	1	0	PODXL	130891595	0.001000	0.12720	0.027000	0.17364	0.027000	0.11550	0.743000	0.26231	0.056000	0.16144	0.055000	0.15244	TCG	.		0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		G	131241055	A	G	131241055	3	3	2	1	0	0	0	0	1	0	0	0	12219	275	10	4	1648	4	PODXL	7	131241055	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	27964187	131241055	27897608	40	96											
DLGAP2	9228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	1645390	1645390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctctccattgaggaCgtcagcatgaagttcgacga	11	11	2	2	rs576181056		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr8:1645390C>T	ENST00000421627.2	+	11	2768	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	957					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)		CCATTGAGGACGTCAGCATGA	0.632													C|||	1	0.000199681	0	0	5008	,	,		17922	0.001		0	False		,,,				2504	0				p.D878D		.											.	DLGAP2-22	0			c.C2634T						.						45	52	50					8																	1645390		2009	4170	6179	SO:0001819	synonymous_variant	9228	exon11			TGAGGACGTCAGC	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.2634C>T	8.37:g.1645390C>T		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	107	92	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805387	0.16467	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-0.873	0.10635	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53287	-0.8460	4	.	.	.	-12.7986	11.7631	0.51914	0.0:0.2556:0.0:0.7444	.	.	.	.	M	881	.	.	T	+	2	0	DLGAP2	1632797	0.038000	0.19896	0.989000	0.46669	0.761000	0.43186	-0.926000	0.03988	-0.412000	0.07519	-0.258000	0.10820	ACG	.		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1645390	C	T	1645390	2	4	2	1	0	0	0	0	0	0	0	1	4574	535	19	1		1	DLGAP2	8	1645390	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		1645390	144718632	41	97											
BHLHE22	27319	bcgsc.ca	37	chr8	65493429	65493429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgagcgcctccaccTccaagcgcttggaagcggct	12	15	0	2	rs7016250	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr8:65493429T>G	ENST00000321870.1	+	1	616	c.82T>G	c.(82-84)Tcc>Gcc	p.S28A	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	28			S -> A (in dbSNP:rs7016250).		anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCCTCCACCTCCAAGCGCTT	0.741													G|||	2648	0.528754	0.77	0.4452	5008	,	,		7262	0.5546		0.326	False		,,,				2504	0.4438				p.S28A	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	0			c.T82G						.	G	ALA/SER	2630,1430		896,838,296	8	8	8		82	2.5	1	8	dbSNP_116	8	2053,6051		317,1419,2316	yes	missense	BHLHE22	NM_152414.4	99	1213,2257,2612	GG,GT,TT		25.3332,35.2217,38.4988	benign	28/382	65493429	4683,7481	2030	4052	6082	SO:0001583	missense	27319	exon1			TCCACCTCCAAGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.82T>G	8.37:g.65493429T>G	ENSP00000318799:p.Ser28Ala	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	26	26	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	1097	0.5022893772893773	369	0.75	153	0.42265193370165743	335	0.5856643356643356	240	0.316622691292876	t	0.020	-1.436684	0.01108	0.647783	0.253332	ENSG00000180828	ENST00000321870	D	0.94537	-3.45	3.39	2.5	0.30297	.	0.179067	0.36374	N	0.002635	T	0.00012	0.0000	N	0.04880	-0.145	0.49051	P	2.590000000000092E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	9	0.02654	T	1	-14.5881	7.3158	0.26499	0.0929:0.0:0.7396:0.1674	rs7016250	28	Q8NFJ8	BHE22_HUMAN	A	28	ENSP00000318799:S28A	ENSP00000318799:S28A	S	+	1	0	BHLHE22	65655983	1.000000	0.71417	0.993000	0.49108	0.580000	0.36256	3.146000	0.50631	0.272000	0.22027	-0.399000	0.06403	TCC	T|0.528;G|0.472		0.741	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		G	65493429	T	G	65493429	3	3	2	1	0	0	0	0	1	0	0	0	1423	1551	54	5	84	5	BHLHE22	8	65493429	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	63848039	65493429	80870593	42	98											
FLJ46321	389763	broad.mit.edu;bcgsc.ca	37	chr9	84605762	84605762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgtcgactgttatgccCagaccccgtctgtcgggtgt	11	13	1	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr9:84605762C>T	ENST00000344803.2	+	4	424	c.377C>T	c.(376-378)cCa>cTa	p.P126L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	126					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGTTATGCCCAGACCCCGTC	0.542																																					p.P126L		.											.	.	0			c.C377T						.						107	98	101					9																	84605762		1980	4156	6136	SO:0001583	missense	389763	exon4			TATGCCCAGACCC		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.377C>T	9.37:g.84605762C>T	ENSP00000341988:p.Pro126Leu	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	88	4	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325873	0.60743	.	.	ENSG00000214929	ENST00000344803	T	0.05786	3.39	2.98	2.98	0.34508	.	0.290510	0.25151	N	0.032742	T	0.19604	0.0471	M	0.68952	2.095	0.41608	D	0.988893	D	0.89917	1.0	D	0.91635	0.999	T	0.00607	-1.1647	10	0.87932	D	0	-21.193	9.7439	0.40435	0.0:1.0:0.0:0.0	.	126	Q6ZQQ2	F75D1_HUMAN	L	126	ENSP00000341988:P126L	ENSP00000341988:P126L	P	+	2	0	FAM75D1	83795582	1.000000	0.71417	0.940000	0.37924	0.024000	0.10985	2.359000	0.44142	2.000000	0.58554	0.644000	0.83932	CCA	.		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84605762	C	T	84605762	3	4	2	1	0	0	0	0	1	0	0	0	5954	594	21	3	391	3	FLJ46321	9	84605762	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		84605762	56607669	43	99											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_001077494	0	0	0	23	23	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	2	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		104159196	31375551	44	100											
TAF5	6877	hgsc.bcm.edu	37	chr10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggcagtggcgggcTccggagccccgggagaggtg	22	9	0	1	rs10883859	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3	5	4		388	1.9	1	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	8	NM_006951	0	0	0	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105128134	T	G	105128134	3	3	2	1	0	0	0	0	1	0	0	0	15575	1551	54	5	390	5	TAF5	10	105128134	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	968938	105128134	30406613	45	101											
GFRA1	2674	broad.mit.edu;bcgsc.ca	37	chr10	117884831	117884831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgatggtctgtcgcctcCgctctgtgcaggcgatgtcc	13	14	2	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr10:117884831C>T	ENST00000355422.6	-	6	1221	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	GFRA1_ENST00000369236.1_Missense_Mutation_p.R219Q|GFRA1_ENST00000439649.3_Missense_Mutation_p.R219Q|GFRA1_ENST00000544592.1_Missense_Mutation_p.R103Q	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	224					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGTCGCCTCCGCTCTGTGCA	0.567																																					p.R224Q	Ovarian(128;329 1725 45498 46808 50759)	.											.	GFRA1-93	0			c.G671A						.						80	68	72					10																	117884831		2203	4300	6503	SO:0001583	missense	2674	exon6			CGCCTCCGCTCTG	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.671G>A	10.37:g.117884831C>T	ENSP00000347591:p.Arg224Gln	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	228	10	NM_005264	0	0	0	0	0	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	37	5.987554	0.97173	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63744	-0.06;-0.06	5.99	5.99	0.97316	GDNF/GAS1 (2);	0.109281	0.64402	D	0.000014	D	0.83229	0.5209	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.937	D	0.84106	0.0398	10	0.54805	T	0.06	-8.0016	20.4777	0.99188	0.0:1.0:0.0:0.0	.	224;219	P56159;P56159-2	GFRA1_HUMAN;.	Q	224;219;219;103;219	ENSP00000358239:R219Q;ENSP00000442179:R103Q	ENSP00000347591:R219Q	R	-	2	0	GFRA1	117874821	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CGG	.		0.567	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		T	117884831	C	T	117884831	3	4	2	1	0	0	0	0	1	0	0	0	6373	652	23	1	750	1	GFRA1	10	117884831	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	12756697	117884831	17649916	46	102											
MUC2	4583	broad.mit.edu	37	chr11	1092940	1092940	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacatcgacacccatcAccaccaccactacggtgacc	4	21	1	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr11:1092940A>T	ENST00000441003.2	+	30	4786	c.4759A>T	c.(4759-4761)Acc>Tcc	p.T1587S	MUC2_ENST00000359061.5_Missense_Mutation_p.T1588S|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gacacccatcaccaccaccac	0.632																																					p.T1587S		.											.	MUC2-90	0			c.A4759T						.						62	99	86					11																	1092940		1889	3458	5347	SO:0001583	missense	4583	exon30			CCCATCACCACCA	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.4759A>T	11.37:g.1092940A>T	ENSP00000415183:p.Thr1587Ser	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	97	7	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	3.953	-0.011850	0.07727	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14391	2.51;3.14	1.75	-1.38	0.09027	.	0.548751	0.14783	N	0.298682	T	0.04952	0.0133	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.41288	-0.9517	9	0.11182	T	0.66	.	2.851	0.05558	0.5312:0.0:0.274:0.1948	.	1587	E7EUV1	.	S	1587;1588	ENSP00000415183:T1587S;ENSP00000351956:T1588S	ENSP00000351956:T1588S	T	+	1	0	MUC2	1082940	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-5.082000	0.00153	-0.456000	0.07043	-1.550000	0.00899	ACC	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092940	A	T	1092940	3	4	2	1	0	0	0	0	1	0	0	0	10013	159	6	5	4877	5	MUC2	11	1092940	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		1092940	133913576	47	103											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	2	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	64717269	65810209	69196307	48	104											
LRP6	4040	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	12301919	12301919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcgaggtctgtcctgctCgcctttcagcaccactccaa	9	16	2	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr12:12301919C>T	ENST00000261349.4	-	14	3239	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1055K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1055	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)	p.E1055*(1)		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)				CTGTCCTGCTCGCCTTTCAGC	0.478																																					p.E1055K		.											.	LRP6-661	1	Substitution - Nonsense(1)	lung(1)	c.G3163A						.						224	204	211					12																	12301919		2203	4300	6503	SO:0001583	missense	4040	exon14			CCTGCTCGCCTTT	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.3163G>A	12.37:g.12301919C>T	ENSP00000261349:p.Glu1055Lys	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	205	12	NM_002336	0	0	11	12	1	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448274	0.63178	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91351	-2.83;-2.83	5.15	5.15	0.70609	Six-bladed beta-propeller, TolB-like (1);	0.345909	0.23631	U	0.046132	D	0.82287	0.5004	N	0.20685	0.6	0.80722	D	1	B;B	0.31680	0.335;0.004	B;B	0.12156	0.007;0.001	T	0.79780	-0.1659	10	0.16420	T	0.52	.	18.9829	0.92761	0.0:1.0:0.0:0.0	.	1055;1055	F5H7J9;O75581	.;LRP6_HUMAN	K	1055	ENSP00000261349:E1055K;ENSP00000442472:E1055K	ENSP00000261349:E1055K	E	-	1	0	LRP6	12193186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.549000	0.85964	0.650000	0.86243	GAG	.		0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12301919	C	T	12301919	3	4	2	1	0	0	0	0	1	0	0	0	8997	893	31	1	1718	1	LRP6	12	12301919	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		12301919	121549976	49	105											
KRT2	3849	hgsc.bcm.edu	37	chr12	53045640	53045641	+	In_Frame_Ins	INS	-	-	AGCCGCTGCCGCCTCCAA													aaagctgctgccgcctccaaINSaaccacctcctctgccacca							TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr12:53045640_53045641insAGCCGCTGCCGCCTCCAA	ENST00000309680.3	-	1	307_308	c.286_287insTTGGAGGCGGCAGCGGCT	c.(286-288)ttt>tTTGGAGGCGGCAGCGGCTtt	p.96_96F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	96	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		gccgcctccaaaaccacctcct	0.614																																					p.F96delinsFGGGSGF		.											.	KRT2-92	0			c.287_288insTTGGAGGCGGCAGCGGCT						.																																			SO:0001652	inframe_insertion	3849	exon1			CCTCCAAAACCAC		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.286_287insTTGGAGGCGGCAGCGGCT	12.37:g.53045640_53045641insAGCCGCTGCCGCCTCCAA	Exception_encountered	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	161	54	NM_000423	0	0	0	0	0	Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	CCDS8835.1																																																																																			.		0.614	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		AGCCGCTGCCGCCTCCAA	53045641	-	AGCCGCTGCCGCCTCCAA	53045640	7	5	2	1	0	1	1	0	0	0	0	0	8484	14	1	0	1668	0	KRT2	12	53045640	In_Frame_Ins	INS	-	TCGA-OR-A5J2-01A-11D-A29I-10	40743721	53045640	80806255	50	106											
KIF5A	3798	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	57957244	57957244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccatatgtttttgaccGtgtattccccccaaacacga	7	12	0	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr12:57957244G>A	ENST00000455537.2	+	2	426	c.152G>A	c.(151-153)cGt>cAt	p.R51H	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	51	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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						GTTTTTGACCGTGTATTCCCC	0.418																																					p.R51H		.											.	KIF5A-517	0			c.G152A						.						92	84	87					12																	57957244		2203	4300	6503	SO:0001583	missense	3798	exon2			TTGACCGTGTATT	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.152G>A	12.37:g.57957244G>A	ENSP00000408979:p.Arg51His	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	256	32	NM_004984	0	0	0	0	0	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913099	0.52439	.	.	ENSG00000155980	ENST00000455537	T	0.75154	-0.91	4.59	4.59	0.56863	Kinesin, motor domain (4);	0.055168	0.64402	D	0.000001	T	0.66528	0.2798	L	0.37697	1.125	0.80722	D	1	B	0.33477	0.413	B	0.31337	0.128	T	0.68815	-0.5309	10	0.51188	T	0.08	.	17.3911	0.87431	0.0:0.0:1.0:0.0	.	51	Q12840	KIF5A_HUMAN	H	51	ENSP00000408979:R51H	ENSP00000408979:R51H	R	+	2	0	KIF5A	56243511	0.999000	0.42202	0.996000	0.52242	0.995000	0.86356	3.876000	0.56115	2.835000	0.97688	0.650000	0.86243	CGT	.		0.418	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57957244	G	A	57957244	3	1	2	1	0	0	0	0	1	0	0	0	8332	1145	40	1	158	1	KIF5A	12	57957244	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	4911604	57957244	75894651	51	107											
BBS10	79738	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	76741456	76741459	+	Frame_Shift_Del	DEL	TCTG	TCTG	-													cacatcaaaggatccttttcTctgtctgtgattgcatgaag							TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	TCTG	TCTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr12:76741456_76741459delTCTG	ENST00000393262.3	-	2	389_392	c.306_309delCAGA	c.(304-309)gacagafs	p.DR102fs		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	102					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GATCCTTTTCTCTGTCTGTGATTG	0.387									Bardet-Biedl syndrome																												p.102_103del		.											.	BBS10-92	0			c.306_309del						.			40,4224		20,0,2112						4.3	0.1			91	89,8165		43,3,4081	no	frameshift	BBS10	NM_024685.3		63,3,6193	A1A1,A1R,RR		1.0783,0.9381,1.0305				129,12389				SO:0001589	frameshift_variant	79738	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	CTTTTCTCTGTCT	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.306_309delCAGA	12.37:g.76741460_76741463delTCTG	ENSP00000376946:p.Asp102fs	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	110	48	NM_024685	0	0	0	0	0	Q96CW2|Q9H5D2	Frame_Shift_Del	DEL	ENST00000393262.3	37	CCDS9014.2																																																																																			.		0.387	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		-	76741459	TCTG	-	76741456	7	5	2	1	0	1	0	1	0	0	0	0	1337	1548	54	0	1866	0	BBS10	12	76741456	Frame_Shift_Del	DEL	TCTG	TCGA-OR-A5J2-01A-11D-A29I-10	18784212	76741456	57110439	52	108											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000392549.2_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000407967.3_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	24	9	NM_001109903	0	0	1	1	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	2	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	40446451	117187907	16663988	53	109											
SUGT1	10910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	53237236	53237236	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttatgttttaataggctcaGaatctgaggtggtaagtcca	10	5	2	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr13:53237236G>T	ENST00000343788.6	+	8	566	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	SUGT1_ENST00000310528.8_Nonsense_Mutation_p.E130*|SUGT1_ENST00000535397.1_Nonsense_Mutation_p.E74*|SUGT1_ENST00000483074.1_3'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	162					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)		AATAGGCTCAGAATCTGAGGT	0.308																																					p.E162X		.											.	SUGT1-226	0			c.G484T						.						110	107	108					13																	53237236		2203	4298	6501	SO:0001587	stop_gained	10910	exon8			GGCTCAGAATCTG	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.484G>T	13.37:g.53237236G>T	ENSP00000367208:p.Glu162*	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	45	13	NM_001130912	0	0	0	0	0	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Nonsense_Mutation	SNP	ENST00000343788.6	37	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392535	0.83011	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	.	.	.	4.92	3.05	0.35203	.	1.827130	0.02099	N	0.053737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-0.9452	11.0187	0.47705	0.0:0.4929:0.5071:0.0	.	.	.	.	X	162;74;130	.	ENSP00000308067:E130X	E	+	1	0	SUGT1	52135237	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.613000	0.36900	1.193000	0.43086	0.555000	0.69702	GAA	.		0.308	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			T	53237236	G	T	53237236	4	4	2	1	0	0	0	0	0	1	0	0	15416	943	33	3	514	3	SUGT1	13	53237236	Nonsense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		53237236	61932642	54	110											
OR10G3	26533	bcgsc.ca	37	chr14	22038525	22038525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcataggccattagGgtgtagaggaagcactgggt	14	7	1	1	rs11626693	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr14:22038525G>T	ENST00000303532.1	-	1	350	c.351C>A	c.(349-351)acC>acA	p.T117T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGCCATTAGGGTGTAGAGGA	0.527													G|||	1822	0.363818	0.5371	0.2277	5008	,	,		21719	0.2966		0.3072	False		,,,				2504	0.3538				p.T117T		.											.	OR10G3-68	0			c.C351A						.	G		2158,2248	583.6+/-385.9	549,1060,594	58	56	56		351	-3.3	0.1	14	dbSNP_120	56	2429,6171	401.1+/-347.0	347,1735,2218	no	coding-synonymous	OR10G3	NM_001005465.1		896,2795,2812	TT,TG,GG		28.2442,48.9787,35.2683		117/314	22038525	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			CATTAGGGTGTAG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.351C>A	14.37:g.22038525G>T		Somatic	205	2		WXS	Illumina GAIIx	Phase_I	215	9	NM_001005465	0	0	0	0	0	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			G|0.656;T|0.344		0.527	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			T	22038525	G	T	22038525	2	4	2	1	0	0	0	0	0	0	0	1	10939	1219	43	3		3	OR10G3	14	22038525	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		22038525	85311015	55	111											
HECTD1	25831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	31598273	31598273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accctacttctgtttgagggAcgttttcagcagatgaaaga	10	8	2	4			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr14:31598273A>T	ENST00000399332.1	-	25	4792	c.4304T>A	c.(4303-4305)gTc>gAc	p.V1435D	HECTD1_ENST00000553700.1_Missense_Mutation_p.V1435D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1435	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGTTTGAGGGACGTTTTCAGC	0.443																																					p.V1435D		.											.	HECTD1-570	0			c.T4304A						.						145	130	135					14																	31598273		1967	4165	6132	SO:0001583	missense	25831	exon25			TGAGGGACGTTTT	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4304T>A	14.37:g.31598273A>T	ENSP00000382269:p.Val1435Asp	Somatic	261	1		WXS	Illumina GAIIx	Phase_I	217	167	NM_015382	0	0	5	22	17	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804318	0.31869	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41758	0.99;0.99;1.24	5.86	5.86	0.93980	.	0.212263	0.28365	U	0.015605	T	0.24005	0.0581	N	0.08118	0	0.53005	D	0.999967	B;B	0.32693	0.145;0.38	B;B	0.31869	0.058;0.137	T	0.14309	-1.0477	10	0.14656	T	0.56	-5.3826	15.1308	0.72520	1.0:0.0:0.0:0.0	.	1435;1435	D3DS86;Q9ULT8	.;HECD1_HUMAN	D	1435;1437;1435;862	ENSP00000450697:V1435D;ENSP00000382269:V1435D;ENSP00000451860:V862D	ENSP00000261312:V1437D	V	-	2	0	HECTD1	30668024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.236000	0.58675	2.367000	0.80283	0.528000	0.53228	GTC	.		0.443	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31598273	A	T	31598273	3	4	2	1	0	0	0	0	1	0	0	0	7066	275	10	5	3604	5	HECTD1	14	31598273	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	9559748	31598273	75751267	56	112											
PLEK2	26499	bcgsc.ca	37	chr14	67878765	67878765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagccctccttgagcacGccgtcctccatgtcgccgcc	10	18	0	1	rs115017102	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr14:67878765G>A	ENST00000216446.4	-	1	152	c.12C>T	c.(10-12)ggC>ggT	p.G4G	PLEK2_ENST00000557388.1_5'UTR	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	4	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CCTTGAGCACGCCGTCCTCCA	0.761													G|||	95	0.0189696	0.0287	0.0144	5008	,	,		12537	0		0.0278	False		,,,				2504	0.0194				p.G4G		.											.	PLEK2-92	0			c.C12T						.	G		120,4238		0,120,2059	23	16	18		12	0.6	1	14	dbSNP_132	18	271,8281		5,261,4010	no	coding-synonymous	PLEK2	NM_016445.1		5,381,6069	AA,AG,GG		3.1688,2.7536,3.0287		4/354	67878765	391,12519	2179	4276	6455	SO:0001819	synonymous_variant	26499	exon1			GAGCACGCCGTCC	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.12C>T	14.37:g.67878765G>A		Somatic	11	1		WXS	Illumina GAIIx	Phase_I	27	25	NM_016445	0	0	0	12	12	Q96JT0	Silent	SNP	ENST00000216446.4	37	CCDS9782.1																																																																																			G|0.976;A|0.024		0.761	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			A	67878765	G	A	67878765	2	1	2	1	0	0	0	0	0	0	0	1	12093	1074	38	1		1	PLEK2	14	67878765	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	36280492	67878765	39470775	57	113											
SEMA6D	80031	bcgsc.ca	37	chr15	48053888	48053888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaatatgatggggaagaaAttagtggcctggcaagatgc	14	4	0	4	rs544873011		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr15:48053888A>G	ENST00000316364.5	+	7	917	c.478A>G	c.(478-480)Att>Gtt	p.I160V	SEMA6D_ENST00000537942.1_Missense_Mutation_p.I160V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.I160V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.I160V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.I160V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.I160V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.I160V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.I160V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.I160V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.I160V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.I160V|SEMA6D_ENST00000389428.3_Missense_Mutation_p.I160V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	160	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)		TGGGGAAGAAATTAGTGGCCT	0.378																																					p.I160V		.											.	SEMA6D-138	0			c.A478G						.						114	119	117					15																	48053888		2198	4297	6495	SO:0001583	missense	80031	exon7			GAAGAAATTAGTG	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.478A>G	15.37:g.48053888A>G	ENSP00000324857:p.Ile160Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_153617	0	0	1	1	0	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730514	0.30684	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	N	0.11313	0.125	0.80722	D	1	B;B;B;B;B	0.28880	0.178;0.015;0.178;0.226;0.178	B;B;B;P;B	0.46917	0.076;0.027;0.076;0.531;0.076	T	0.33879	-0.9851	10	0.08381	T	0.77	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	160;160;160;160;160	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	V	160	ENSP00000442040:I160V;ENSP00000446152:I160V;ENSP00000324857:I160V;ENSP00000374084:I160V;ENSP00000374083:I160V;ENSP00000346786:I160V;ENSP00000350770:I160V;ENSP00000374079:I160V;ENSP00000348276:I160V;ENSP00000374076:I160V	ENSP00000324857:I160V	I	+	1	0	SEMA6D	45841180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.238000	0.73509	0.533000	0.62120	ATT	.		0.378	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		G	48053888	A	G	48053888	3	3	2	1	0	0	0	0	1	0	0	0	14087	101	4	4	500	4	SEMA6D	15	48053888	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10		48053888	54477504	58	114											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	63017231	63017231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaatacggtgcagacGcttaagaatgaactgcagga	12	8	1	4			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr15:63017231G>A	ENST00000561311.1	+	26	3413	c.3183G>A	c.(3181-3183)acG>acA	p.T1061T	TLN2_ENST00000306829.6_Silent_p.T1061T			Q9Y4G6	TLN2_HUMAN	talin 2	1061	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGTGCAGACGCTTAAGAATG	0.537																																					p.T1061T		.											.	TLN2-573	0			c.G3183A						.						69	66	67					15																	63017231		2203	4300	6503	SO:0001819	synonymous_variant	83660	exon24			GCAGACGCTTAAG	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.3183G>A	15.37:g.63017231G>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	43	7	NM_015059	0	0	3	3	0	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																			.		0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63017231	G	A	63017231	2	1	2	1	0	0	0	0	0	0	0	1	15995	1074	38	1		1	TLN2	15	63017231	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	14963343	63017231	39514161	59	115											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	2	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	2352164	65369395	37161997	60	116											
FAM173A	65990	broad.mit.edu	37	chr16	771612	771612	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtgccctacgtcggCgcgagcgcgcggcaggtgga	18	13	0	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:771612C>A	ENST00000569529.1	+	2	477	c.177C>A	c.(175-177)ggC>ggA	p.G59G	FAM173A_ENST00000564000.1_Silent_p.G59G|FAM173A_ENST00000219535.3_Silent_p.G59G	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	59						integral component of membrane (GO:0016021)				pancreas(1)	1						CCTACGTCGGCGCGAGCGCGC	0.726																																					p.G59G		.											.	FAM173A-91	0			c.C177A						.						10	12	11					16																	771612		2030	4025	6055	SO:0001819	synonymous_variant	65990	exon2			CGTCGGCGCGAGC	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.177C>A	16.37:g.771612C>A		Somatic	24	1		WXS	Illumina GAIIx	Phase_I	57	8	NM_001271285	0	0	3	3	0	A2IDD4	Silent	SNP	ENST00000569529.1	37	CCDS10423.1																																																																																			.		0.726	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241667.2	NM_023933		A	771612	C	A	771612	2	1	2	1	0	0	0	0	0	0	0	1	5512	755	27	2		2	FAM173A	16	771612	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10		771612	89583141	61	117											
NDUFB10	4716	broad.mit.edu	37	chr16	2011627	2011645	+	Splice_Site	DEL	CCAGGACCGCTGTGCGTGC	CCAGGACCGCTGTGCGTGC	-													acccaggtggccaaggcctaCcaggaccgctgtgcgtgccc					rs553213731|rs375783041		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:2011627_2011645delCCAGGACCGCTGTGCGTGC	ENST00000268668.6	+	3	516_526	c.399_409delCCAGGACCGCTGTGCGTGC	c.(397-411)taccaggaccgctgt>tagt	p.YQDRC133fs	SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Frame_Shift_Del_p.YQDRCAC133fs|NDUFB10_ENST00000569148.1_Splice_Site_p.YQDRC122fs|SNORA64_ENST00000384674.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	133					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						CCAAGGCCTACCAGGACCGCTGTGCGTGCCCCACCCACC	0.607																																					p.133_137del		.											.	NDUFB10-90	0			c.399_409del						.																																			SO:0001630	splice_region_variant	4716	exon3			GGCCTACCAGGAC	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.409+1CCAGGACCGCTGTGCGTGC>-	16.37:g.2011627_2011645delCCAGGACCGCTGTGCGTGC		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	15	4	NM_004548	0	0	0	0	0	Q96II6	Frame_Shift_Del	DEL	ENST00000268668.6	37	CCDS10451.1																																																																																			.		0.607	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548	Frame_Shift_Del	-	2011645	CCAGGACCGCTGTGCGTGC	-	2011627	8	5	2	1	0	1	0	1	0	0	1	0	10318	518	18	0	409	0	NDUFB10	16	2011627	Splice_Site	DEL	CCAGGACCGCTGTGCGTGC	TCGA-OR-A5J2-01A-11D-A29I-10	1240015	2011627	88343126	62	118											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086730	2086730	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgctggtggcggcaggTgaacgggcagaatgtggagg	19	6	0	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:2086730T>G	ENST00000424542.2	+	4	734	c.596T>G	c.(595-597)gTg>gGg	p.V199G	SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Splice_Site_p.V199G|SLC9A3R2_ENST00000566198.1_Splice_Site_p.V88G|SLC9A3R2_ENST00000563587.1_Splice_Site_p.V93G	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	199	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						TGGCGGCAGGTGAACGGGCAG	0.662																																					p.V199G	Ovarian(69;105 1552 17724 23473)	.											.	SLC9A3R2-23	0			c.T596G						.						33	43	39					16																	2086730		2165	4274	6439	SO:0001630	splice_region_variant	9351	exon4			GGCAGGTGAACGG	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.595-1T>G	16.37:g.2086730T>G		Somatic	56	10		WXS	Illumina GAIIx	Phase_I	70	24	NM_004785	0	0	0	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	t	17.64	3.440155	0.63067	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.40225	1.04;1.04	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	H	0.96889	3.9	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	0.84054	0.0371	10	0.87932	D	0	-15.7272	13.6345	0.62215	0.0:0.0:0.0:1.0	.	234;199;199	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	G	199	ENSP00000408005:V199G;ENSP00000402857:V199G	ENSP00000408005:V199G	V	+	2	0	SLC9A3R2	2026731	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.929000	0.87595	1.815000	0.52974	0.375000	0.23000	GTG	.		0.662	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1		Missense_Mutation	G	2086730	T	G	2086730	5	3	2	1	0	0	0	0	0	0	1	0	14760	1710	59	5	610	5	SLC9A3R2	16	2086730	Splice_Site	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	75103	2086730	88268023	63	119											
ANKS3	124401	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4747041	4747041	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaggctaggtctcccgCcacttcttcccgttcagcac	8	19	3	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:4747041C>G	ENST00000304283.4	-	17	2253	c.1959G>C	c.(1957-1959)tgG>tgC	p.W653C	ANKS3_ENST00000446014.2_Missense_Mutation_p.W524C|ANKS3_ENST00000585773.1_Missense_Mutation_p.W580C	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	653										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGGTCTCCCGCCACTTCTTCC	0.647																																					p.W653C		.											.	ANKS3-90	0			c.G1959C						.						76	60	65					16																	4747041		2196	4300	6496	SO:0001583	missense	124401	exon17			CTCCCGCCACTTC	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1959G>C	16.37:g.4747041C>G	ENSP00000304586:p.Trp653Cys	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	69	48	NM_133450	0	0	1	12	11	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959362	0.74016	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.47869	0.83;2.52	5.49	4.52	0.55395	.	0.282115	0.37136	N	0.002229	T	0.64962	0.2646	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.70561	-0.4838	10	0.87932	D	0	10.7502	14.6428	0.68737	0.1464:0.8536:0.0:0.0	.	653	Q6ZW76	ANKS3_HUMAN	C	653;524	ENSP00000304586:W653C;ENSP00000406796:W524C	ENSP00000304586:W653C	W	-	3	0	ANKS3	4687042	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.452000	0.44961	1.274000	0.44362	0.655000	0.94253	TGG	.		0.647	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		G	4747041	C	G	4747041	3	3	2	1	0	0	0	0	1	0	0	0	690	740	26	3	15	3	ANKS3	16	4747041	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	2660311	4747041	85607712	64	120											
CLEC16A	23274	hgsc.bcm.edu	37	chr16	11272460	11272460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcctcaccggcatgccCccgctgtccacgccggctgc	11	21	1	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:11272460C>T	ENST00000409790.1	+	24	3305	c.3075C>T	c.(3073-3075)ccC>ccT	p.P1025P	CLEC16A_ENST00000381822.2_Silent_p.P112P	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGGCATGCCCCCGCTGTCCA	0.697																																					p.P1025P		.											.	CLEC16A-92	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C3075T						.						12	17	15					16																	11272460		2061	4191	6252	SO:0001819	synonymous_variant	23274	exon23			CATGCCCCCGCTG	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.3075C>T	16.37:g.11272460C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	29	22	NM_015226	0	0	1	18	17		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																			.		0.697	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11272460	C	T	11272460	2	4	2	1	0	0	0	0	0	0	0	1	3507	610	22	3		3	CLEC16A	16	11272460	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	6525419	11272460	79082293	65	121											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_033212	0	0	0	1	1	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	2	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	46290344	57562804	32791949	66	122											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	13	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	2	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-OR-A5J2-01A-11D-A29I-10	31036892	88599696	1755057	67	123	3	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	2	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5J2-01A-11D-A29I-10	1	88599697	1755056	68	124	3	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-													ggagaggccagagcggagccTctggcccagaatggaggcag					rs67322929|rs149145771	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1	1	1					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	14	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599701	T	-	88599701	7	5	2	1	0	1	0	1	0	0	0	0	17705	1538	54	0	1373	0	ZFPM1	16	88599701	Frame_Shift_Del	DEL	T	TCGA-OR-A5J2-01A-11D-A29I-10	4	88599701	1755052	69	125	3	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-													agaggccagagcggagcctcTggcccagaatggaggcagca					rs149145771|rs67873604	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	14	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	TGG	-	88599703	7	5	2	1	0	1	0	1	0	0	0	0	17705	1580	55	0	1375	0	ZFPM1	16	88599703	In_Frame_Del	DEL	TGG	TCGA-OR-A5J2-01A-11D-A29I-10	2	88599703	1755050	70	126	3	4									
C16orf3	2622	bcgsc.ca	37	chr16	90095573	90095573	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctacggggcaggctaCggggcagcttacggggcagg	19	11	0	0	rs77382359		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr16:90095573C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.V60I|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctacggggcagctt	0.672																																					p.V60I		.											.	C16orf3-90	0			c.G178A						.						22	20	21					16																	90095573		2194	4299	6493	SO:0001627	intron_variant	750	exon1			AGGCTACGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1443C>T	16.37:g.90095573C>T		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	48	13	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788068	0.02884	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	I	60	ENSP00000386218:V60I	.	V	-	1	0	C16orf3	88623074	0.031000	0.19500	0.015000	0.15790	0.017000	0.09413	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA	C|0.500;T|0.500		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095573	C	T	90095573	1	4	2	0	1	0	0	0	0	0	0	0	1817	536	19	1		1	C16orf3	16	90095573	Intron	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	1495870	90095573	259180	71	127											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7578415	7578428	+	Frame_Shift_Del	DEL	ACCTCCGTCATGTG	ACCTCCGTCATGTG	-													ggtgggggcagcgcctcacaAcctccgtcatgtgctgtgac					rs587781845|rs587780729		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	ACCTCCGTCATGTG	ACCTCCGTCATGTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr17:7578415_7578428delACCTCCGTCATGTG	ENST00000269305.4	-	5	691_704	c.502_515delCACATGACGGAGGT	c.(502-516)cacatgacggaggttfs	p.HMTEV168fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.HMTEV168fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.HMTEV168fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HMTEV168fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.HMTEV168fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.HMTEV168fs	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	168	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (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.V172F(14)|p.H168R(12)|p.E171K(11)|p.E171*(10)|p.H168P(10)|p.H168Y(9)|p.H168L(8)|p.M169I(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.T170M(7)|p.T170T(7)|p.V172G(6)|p.V172fs*2(4)|p.E171Q(4)|p.V172A(4)|p.H168H(4)|p.E171fs*2(3)|p.E171G(3)|p.E171fs*10(3)|p.M169V(3)|p.M169T(3)|p.E171D(2)|p.E171fs*3(2)|p.H168fs*2(2)|p.E171V(2)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.H36L(1)|p.H75L(1)|p.Y163fs*1(1)|p.T170A(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.Q167_H168>HD(1)|p.H168fs*5(1)|p.V172_E180delVVRRCPHHE(1)|p.V40F(1)|p.V40G(1)|p.T170fs*5(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168D(1)|p.E171A(1)|p.H168_M169>LI(1)|p.H168fs*4(1)|p.E171fs*9(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.T170fs*2(1)|p.M169fs*2(1)|p.Q167fs*12(1)|p.Q167_H168>YL(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.H168N(1)|p.E39fs*2(1)|p.V79F(1)|p.V79G(1)|p.M169_T170insX(1)|p.H168fs*13(1)|p.H168Q(1)|p.Q165_M169delQSQHM(1)|p.T170P(1)|p.T170S(1)|p.E171_V172delEV(1)|p.E39K(1)|p.M169fs*12(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCTCACAACCTCCGTCATGTGCTGTGACTGC	0.654		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.168_172del	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	212	Substitution - Missense(136)|Deletion - Frameshift(26)|Substitution - coding silent(11)|Substitution - Nonsense(10)|Insertion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Complex - compound substitution(3)|Insertion - In frame(2)	lung(35)|breast(32)|large_intestine(27)|oesophagus(17)|haematopoietic_and_lymphoid_tissue(14)|skin(11)|upper_aerodigestive_tract(11)|urinary_tract(10)|stomach(9)|ovary(9)|liver(8)|central_nervous_system(6)|prostate(5)|bone(5)|cervix(3)|vulva(2)|endometrium(2)|soft_tissue(2)|kidney(1)|thyroid(1)|biliary_tract(1)|pancreas(1)	c.502_515del						.																																			SO:0001589	frameshift_variant	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;	CTCACAACCTCCG	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.502_515delCACATGACGGAGGT	17.37:g.7578415_7578428delACCTCCGTCATGTG	ENSP00000269305:p.His168fs	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	55	26	NM_000546	0	0	0	0	0	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																																																																																			.		0.654	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578428	ACCTCCGTCATGTG	-	7578415	7	5	2	1	0	1	0	1	0	0	0	0	16429	43	2	0	783	0	TP53	17	7578415	Frame_Shift_Del	DEL	ACCTCCGTCATGTG	TCGA-OR-A5J2-01A-11D-A29I-10		7578415	73616795	72	128											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	10	9	1	6			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y		.											.	.	0			c.G152A						.						274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	293	10		WXS	Illumina GAIIx	Phase_I	239	10	NM_145301	0	0	13	111	98	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		T	15457087	C	T	15457087	3	4	2	1	0	0	0	0	1	0	0	0	5539	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	7878672	15457087	65738123	73	129											
SARM1	7448	hgsc.bcm.edu	37	chr17	26699121	26699121	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgtcgggcccacggcGgggcgccgagcggctggcgg	20	15	0	0	rs7212814		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				VTN_ENST00000536498.1_5'Flank|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1	1	1	5008	,	,		9002	1		1	False		,,,				2504	1				p.R23P		.											.	.	0			c.G68C						.						2	2	2					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015077	0	0	0	4	4	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699121	G	C	26699121	1	2	2	0	1	0	0	0	0	0	0	0	13887	1116	39	2		2	SARM1	17	26699121	5'Flank	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	11242034	26699121	54496089	74	130											
SEZ6	124925	ucsc.edu	37	chr17	27286750	27286750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctcattccactggggGtcgtgggggtcaacacactc	12	12	3	0	rs9907950	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr17:27286750G>A	ENST00000317338.12	-	8	2165	c.1737C>T	c.(1735-1737)gaC>gaT	p.D579D	SEZ6_ENST00000360295.9_Silent_p.D579D|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.D579D|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	579	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCCACTGGGGGTCGTGGGGGT	0.602													G|||	709	0.141573	0.2632	0.1268	5008	,	,		18719	0.0506		0.1402	False		,,,				2504	0.0828				p.D579D		.											.	SEZ6-90	0			c.C1737T						.	G	,	933,3183		106,721,1231	50	53	52		1737,1737	-2.8	0.9	17	dbSNP_119	52	1159,7293		80,999,3147	no	coding-synonymous,coding-synonymous	SEZ6	NM_001098635.1,NM_178860.4	,	186,1720,4378	AA,AG,GG		13.7127,22.6676,16.6454	,	579/994,579/995	27286750	2092,10476	2058	4226	6284	SO:0001819	synonymous_variant	124925	exon8			CTGGGGGTCGTGG	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1737C>T	17.37:g.27286750G>A		Somatic	70	1		WXS	Illumina GAIIx	Phase_I	47	4	NM_001098635	0	0	0	0	0	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1																																																																																			G|0.841;A|0.159		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			A	27286750	G	A	27286750	2	1	2	1	0	0	0	0	0	0	0	1	14187	1252	44	3		3	SEZ6	17	27286750	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	587629	27286750	53908460	75	131											
LAMA3	3909	ucsc.edu;bcgsc.ca	37	chr18	21464756	21464756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgccactggctgtgtgGtgaatgggggagacgtgcgg	19	7	0	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr18:21464756G>T	ENST00000313654.9	+	41	5483	c.5242G>T	c.(5242-5244)Gtg>Ttg	p.V1748L	LAMA3_ENST00000269217.6_Missense_Mutation_p.V139L|LAMA3_ENST00000587184.1_Missense_Mutation_p.V139L|LAMA3_ENST00000399516.3_Missense_Mutation_p.V1748L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1748	Domain III A.|Laminin EGF-like 14. {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)					TGGCTGTGTGGTGAATGGGGG	0.527																																					p.V1748L		.											.	LAMA3-100	0			c.G5242T						.						176	168	171					18																	21464756		2203	4300	6503	SO:0001583	missense	3909	exon41			TGTGTGGTGAATG	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.5242G>T	18.37:g.21464756G>T	ENSP00000324532:p.Val1748Leu	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_001127717	0	0	0	0	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453987	0.43634	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.60548	0.18;0.18;0.18	6.06	6.06	0.98353	EGF-like, laminin (3);Growth factor, receptor (1);	.	.	.	.	T	0.51432	0.1674	N	0.08118	0	0.48452	D	0.999658	P;P;P;P	0.51147	0.928;0.942;0.802;0.881	P;P;P;P	0.53518	0.645;0.716;0.659;0.728	T	0.48433	-0.9036	9	0.19590	T	0.45	.	19.4116	0.94675	0.0:0.0:1.0:0.0	.	139;139;1748;1748	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	1748;1748;139	ENSP00000324532:V1748L;ENSP00000382432:V1748L;ENSP00000269217:V139L	ENSP00000269217:V139L	V	+	1	0	LAMA3	19718754	1.000000	0.71417	0.980000	0.43619	0.533000	0.34776	5.009000	0.63998	2.885000	0.99019	0.655000	0.94253	GTG	.		0.527	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21464756	G	T	21464756	3	4	2	1	0	0	0	0	1	0	0	0	8635	1261	44	3	5579	3	LAMA3	18	21464756	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		21464756	56612492	76	132											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929678	929678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgaggacagagagcccgaGagtgcccggatgcagcgggc	18	11	0	2	rs3826948	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3	4	3		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005224	0	0	0	1	1	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	929678	G	A	929678	2	1	2	1	0	0	0	0	0	0	0	1	916	933	33	3		3	ARID3A	19	929678	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		929678	58199305	77	133											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_005224	0	0	0	2	2	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	2	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	75	929753	58199230	78	134											
PDE4C	5143	ucsc.edu	37	chr19	18331699	18331699	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttacctgcaggagggagctGattgctggatgaagggtttc	15	6	0	2			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:18331699G>T	ENST00000355502.3	-	9	1451	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	PDE4C_ENST00000594617.3_Missense_Mutation_p.Q194K|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000594465.3_Missense_Mutation_p.Q194K|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q162K|PDE4C_ENST00000447275.3_Missense_Mutation_p.Q88K|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000539010.1_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	194					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGAGGGAGCTGATTGCTGGAT	0.637																																					p.Q194K		.											.	PDE4C-94	0			c.C580A						.						72	56	61					19																	18331699		2203	4300	6503	SO:0001583	missense	5143	exon6			GGAGCTGATTGCT		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.580C>A	19.37:g.18331699G>T	ENSP00000347689:p.Gln194Lys	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_000923	0	0	0	0	0	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	0.522	-0.861617	0.02610	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.69306	-0.37;-0.39;-0.39	3.46	2.41	0.29592	.	0.864106	0.10113	N	0.714399	T	0.41465	0.1160	N	0.11756	0.17	0.32291	N	0.566245	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.42413	-0.9453	10	0.02654	T	1	.	7.9364	0.29933	0.1212:0.0:0.8788:0.0	.	194;162	Q08493;Q08493-3	PDE4C_HUMAN;.	K	273;194;182;162;88;303	ENSP00000347689:Q194K;ENSP00000262805:Q162K;ENSP00000402091:Q88K	ENSP00000262805:Q162K	Q	-	1	0	PDE4C	18192699	0.000000	0.05858	0.003000	0.11579	0.051000	0.14879	-0.022000	0.12480	0.810000	0.34279	0.486000	0.48141	CAG	.		0.637	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18331699	G	T	18331699	3	4	2	1	0	0	0	0	1	0	0	0	11680	1299	45	3	1602	3	PDE4C	19	18331699	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	17401946	18331699	40797284	79	135											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	2	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	21029021	39360720	19768263	80	136											
ZNF230	7773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr19	44515611	44515611	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcattatttttaaatgatAtgtaagttgtacatatatat	4	2	1	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:44515611A>T	ENST00000429154.2	+	5	1648	c.1420A>T	c.(1420-1422)Atg>Ttg	p.M474L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				tttaaatgatatgtaagttgt	0.299																																					p.M474L	GBM(175;914 2069 22996 47111 52600)	.											.	ZNF230-90	0			c.A1420T						.						12	14	13					19																	44515611		2152	4249	6401	SO:0001583	missense	7773	exon5			AATGATATGTAAG	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1420A>T	19.37:g.44515611A>T	ENSP00000409318:p.Met474Leu	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	18	6	NM_006300	0	0	4	4	0	O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	2.699	-0.271507	0.05716	.	.	ENSG00000159882	ENST00000429154	T	0.04049	3.72	1.32	-1.01	0.10169	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47548	-0.9109	9	0.23891	T	0.37	.	4.2333	0.10613	0.496:0.0:0.504:0.0	.	474	Q9UIE0	ZN230_HUMAN	L	474	ENSP00000409318:M474L	ENSP00000409318:M474L	M	+	1	0	ZNF230	49207451	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.095000	0.11077	-0.420000	0.07427	0.358000	0.22013	ATG	.		0.299	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			T	44515611	A	T	44515611	3	4	2	1	0	0	0	0	1	0	0	0	17832	449	16	5	1434	5	ZNF230	19	44515611	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	5154891	44515611	14613372	81	137											
TPRX1	284355	broad.mit.edu	37	chr19	48305622	48305622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgggtttgggcctgAgattgggcctgagattgggc	19	8	0	2	rs201007421		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:48305622A>G	ENST00000322175.3	-	2	801	c.646T>C	c.(646-648)Tca>Cca	p.S216P	TPRX1_ENST00000543508.1_Missense_Mutation_p.S206P|TPRX1_ENST00000535759.1_Missense_Mutation_p.S313P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	216	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		tttgggcctgagattgggcct	0.667																																					p.S216P	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.T646C						.																																			SO:0001583	missense	284355	exon2			GGCCTGAGATTGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.646T>C	19.37:g.48305622A>G	ENSP00000323455:p.Ser216Pro	Somatic	26	2		WXS	Illumina GAIIx	Phase_I	25	4	NM_198479	0	0	1	1	0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.036234	0.00406	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.365	-0.73	0.11154	.	.	.	.	.	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40701	-0.9549	8	0.02654	T	1	.	.	.	.	.	216	Q8N7U7	TPRX1_HUMAN	P	216;313;206	ENSP00000323455:S216P;ENSP00000438832:S313P;ENSP00000438712:S206P	ENSP00000323455:S216P	S	-	1	0	TPRX1	52997434	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.826000	0.27407	-2.735000	0.00382	-2.728000	0.00130	TCA	.		0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		G	48305622	A	G	48305622	3	3	2	1	0	0	0	0	1	0	0	0	16470	304	11	4	593	4	TPRX1	19	48305622	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	3790011	48305622	10823361	82	138											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	2	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	859330	49164952	9964031	83	139											
IZUMO1	284359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	49245556	49245556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccatttgaggaacttcCacattccgctctgggggtgg	11	11	2	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:49245556C>T	ENST00000332955.2	-	7	1057	c.510G>A	c.(508-510)gtG>gtA	p.V170V	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	170	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GAGGAACTTCCACATTCCGCT	0.502																																					p.V170V		.											.	IZUMO1-91	0			c.G510A						.						139	128	132					19																	49245556		2203	4300	6503	SO:0001819	synonymous_variant	284359	exon7			AACTTCCACATTC	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.510G>A	19.37:g.49245556C>T		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	94	75	NM_182575	0	0	0	5	5	Q6Q8P6|Q6Q8P7	Silent	SNP	ENST00000332955.2	37	CCDS12732.1																																																																																			.		0.502	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		T	49245556	C	T	49245556	2	4	2	1	0	0	0	0	0	0	0	1	7960	581	21	3		3	IZUMO1	19	49245556	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	80604	49245556	9883427	84	140											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_033113	0	0	0	1	1	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	2	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-OR-A5J2-01A-11D-A29I-10	6747704	55993260	3135723	85	141											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_052951	0	0	5	5	0	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	2	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10		44420682	18604838	86	142											
RNF114	55905	bcgsc.ca	37	chr20	48562681	48562681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttccaggaatgttcCaaaccgttacacctttcctt	4	14	1	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr20:48562681C>T	ENST00000244061.2	+	4	409	c.407C>T	c.(406-408)cCa>cTa	p.P136L		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	136					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						AGGAATGTTCCAAACCGTTAC	0.408																																					p.P136L		.											.	RNF114-91	0			c.C407T						.						86	75	79					20																	48562681		2203	4300	6503	SO:0001583	missense	55905	exon4			ATGTTCCAAACCG	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.407C>T	20.37:g.48562681C>T	ENSP00000244061:p.Pro136Leu	Somatic	84	2		WXS	Illumina GAIIx	Phase_I	127	56	NM_018683	0	0	0	0	0	B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636682	0.87760	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.81163	-1.46	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87949	0.2722	10	0.30078	T	0.28	-22.6498	19.1953	0.93686	0.0:1.0:0.0:0.0	.	136;136	Q9Y508-2;Q9Y508	.;RN114_HUMAN	L	136	ENSP00000244061:P136L	ENSP00000244061:P136L	P	+	2	0	RNF114	47996088	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.133000	0.77259	2.828000	0.97474	0.655000	0.94253	CCA	.		0.408	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		T	48562681	C	T	48562681	3	4	2	1	0	0	0	0	1	0	0	0	13474	594	21	3	421	3	RNF114	20	48562681	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	4141999	48562681	14462839	87	143											
TMEM189	387522	hgsc.bcm.edu	37	chr20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggcccggccagtTctcggcgcccgccatggcca	13	18	1	0	rs232733		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D|TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D|TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1	1	1	5008	,	,		6103	1		1	False		,,,				2504	1				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2	2	2					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_199129	0	0	0	12	12		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			C	48770159	T	C	48770159	3	2	2	1	0	0	0	0	1	0	0	0	16158	1783	62	4	820	4	TMEM189	20	48770159	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10	207478	48770159	14255361	88	144											
COL9A3	1299	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	61470085	61470085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaggagcagggctggaCgggcctgaaggagaccaggg	21	9	0	2	rs376259511	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr20:61470085C>T	ENST00000343916.3	+	31	1839	c.1836C>T	c.(1834-1836)gaC>gaT	p.D612D	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	612	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGGCTGGACGGGCCTGAAG	0.587													C|||	2	0.000399361	0	0	5008	,	,		15584	0		0	False		,,,				2504	0.002				p.D612D		.											.	COL9A3-514	0			c.C1836T						.	C		0,4242		0,0,2121	48	37	41		1836	-3.7	1	20		41	1,8317		0,1,4158	no	coding-synonymous	COL9A3	NM_001853.3		0,1,6279	TT,TC,CC		0.012,0.0,0.0080		612/685	61470085	1,12559	2121	4159	6280	SO:0001819	synonymous_variant	1299	exon31			GCTGGACGGGCCT	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1836C>T	20.37:g.61470085C>T		Somatic	205	0		WXS	Illumina GAIIx	Phase_I	325	13	NM_001853	0	0	17	20	3	Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	CCDS13505.1																																																																																			.		0.587	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		T	61470085	C	T	61470085	2	4	2	1	0	0	0	0	0	0	0	1	3716	535	19	1		1	COL9A3	20	61470085	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	12699926	61470085	1555435	89	145											
RTEL1	51750	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62303930	62303930	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccgcagagcacacaacattGacctgaaggggacagtcgtg	13	11	0	3			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr20:62303930G>T	ENST00000360203.5	+	9	1046	c.721G>T	c.(721-723)Gac>Tac	p.D241Y	RTEL1_ENST00000508582.2_Missense_Mutation_p.D265Y|RTEL1_ENST00000318100.4_Missense_Mutation_p.D241Y|RTEL1_ENST00000370018.3_Missense_Mutation_p.D241Y|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D241Y					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACACAACATTGACCTGAAGGG	0.557																																					p.D265Y		.											.	RTEL1-44	0			c.G793T						.						87	63	71					20																	62303930		2203	4299	6502	SO:0001583	missense	51750	exon9			AACATTGACCTGA	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.721G>T	20.37:g.62303930G>T	ENSP00000353332:p.Asp241Tyr	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	143	36	NM_032957	0	0	12	18	6		Missense_Mutation	SNP	ENST00000360203.5	37		.	.	.	.	.	.	.	.	.	.	g	17.62	3.434783	0.62955	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.57	4.44	4.44	0.53790	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.057183	0.64402	D	0.000001	D	0.87188	0.6115	M	0.91972	3.26	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.994;0.999;0.997	D;D;D;D	0.76071	0.987;0.942;0.981;0.973	D	0.90565	0.4518	10	0.72032	D	0.01	-29.6548	17.0938	0.86628	0.0:0.0:1.0:0.0	.	265;265;241;241	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	Y	241;241;265;241;291	ENSP00000359035:D241Y;ENSP00000322287:D241Y;ENSP00000424307:D265Y;ENSP00000353332:D241Y;ENSP00000349265:D291Y	ENSP00000349265:D291Y	D	+	1	0	AL353715.1	61774374	1.000000	0.71417	0.920000	0.36463	0.186000	0.23388	8.143000	0.89621	2.189000	0.69895	0.645000	0.84053	GAC	.		0.557	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		T	62303930	G	T	62303930	3	4	2	1	0	0	0	0	1	0	0	0	13765	1290	45	3	751	3	RTEL1	20	62303930	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	833845	62303930	721590	90	146											
SLC5A3	6526	broad.mit.edu	37	chr21	35468284	35468284	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaagatgttccttggcctGgattcattcttgggcagacc	11	9	2	3			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr21:35468284G>T	ENST00000381151.3	+	2	1299	c.787G>T	c.(787-789)Gga>Tga	p.G263*	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Nonsense_Mutation_p.G263*			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	263					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTTGGCCTGGATTCATTCT	0.473																																					p.G263X		.											.	SLC5A3-92	0			c.G787T						.						111	105	107					21																	35468284		2203	4300	6503	SO:0001587	stop_gained	6526	exon2			TGGCCTGGATTCA		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.787G>T	21.37:g.35468284G>T	ENSP00000370543:p.Gly263*	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	127	5	NM_006933	0	0	12	12	0	O43489	Nonsense_Mutation	SNP	ENST00000381151.3	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	40	8.316016	0.98757	.	.	ENSG00000198743	ENST00000381151	.	.	.	5.72	5.72	0.89469	.	0.057455	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.663	0.91478	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000370543:G263X	G	+	1	0	SLC5A3	34390154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.699000	0.92147	0.609000	0.83330	GGA	.		0.473	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			T	35468284	G	T	35468284	4	4	2	1	0	0	0	0	0	1	0	0	14711	1349	47	3	789	3	SLC5A3	21	35468284	Nonsense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		35468284	12661611	91	147											
KRTAP10-4	386672	ucsc.edu	37	chr21	45993851	45993851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgcccagtgacctgCgagcccagcccctgccaatc	9	20	0	1	rs201895065		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C		.											.	KRTAP10-4-90	0			c.C216T						.						20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T		Somatic	14	2		WXS	Illumina GAIIx	Phase_I	26	16	NM_198687	0	0	0	0	0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|1.000;|0.000		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45993851	C	T	45993851	2	4	2	1	0	0	0	0	0	0	0	1	8538	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	10525567	45993851	2136044	92	148											
PCNT	5116	ucsc.edu	37	chr21	47848459	47848459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcacggcgctgacaagcGcagaggcgcgcgggagccag	18	13	0	2	rs2839256	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr21:47848459G>A	ENST00000359568.5	+	35	7752	c.7645G>A	c.(7645-7647)Gca>Aca	p.A2549T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2549			A -> T (in dbSNP:rs2839256). {ECO:0000269|PubMed:11171385}.		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)					GCTGACAAGCGCAGAGGCGCG	0.697													G|||	890	0.177716	0.4856	0.0937	5008	,	,		16663	0.004		0.0924	False		,,,				2504	0.0879				p.A2549T		.											.	PCNT-141	0			c.G7645A						.	G	THR/ALA	1879,2513		406,1067,723	16	16	16		7645	0.7	0	21	dbSNP_100	16	654,7932		18,618,3657	yes	missense	PCNT	NM_006031.5	58	424,1685,4380	AA,AG,GG		7.6171,42.7823,19.5176	possibly-damaging	2549/3337	47848459	2533,10445	2196	4293	6489	SO:0001583	missense	5116	exon35			ACAAGCGCAGAGG	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.7645G>A	21.37:g.47848459G>A	ENSP00000352572:p.Ala2549Thr	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	44	5	NM_006031	0	0	5	5	0	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	345	0.15796703296703296	233	0.4735772357723577	37	0.10220994475138122	2	0.0034965034965034965	73	0.09630606860158311	G	2.165	-0.391218	0.04932	0.427823	0.076171	ENSG00000160299	ENST00000359568	T	0.01388	4.95	4.51	0.662	0.17880	.	0.846706	0.09636	N	0.775640	T	0.00012	0.0000	L	0.28274	0.84	0.80722	P	0.0	B;P	0.34662	0.226;0.462	B;B	0.21151	0.031;0.033	T	0.08166	-1.0735	9	0.14656	T	0.56	.	4.0409	0.09751	0.331:0.0:0.5134:0.1556	rs2839256;rs59202831;rs2839256	2431;2549	O95613-2;O95613	.;PCNT_HUMAN	T	2549	ENSP00000352572:A2549T	ENSP00000352572:A2549T	A	+	1	0	PCNT	46672887	0.001000	0.12720	0.009000	0.14445	0.015000	0.08874	0.705000	0.25675	-0.005000	0.14395	0.563000	0.77884	GCA	A|0.200;C|0.007		0.697	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47848459	G	A	47848459	3	1	2	1	0	0	0	0	1	0	0	0	11629	1087	38	1	7783	1	PCNT	21	47848459	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	1854608	47848459	281436	93	149											
ZDHHC8	29801	bcgsc.ca	37	chr22	20131116	20131116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaggccagcagcaacGccccggggccccggcccagc	13	19	1	1	rs80226867	byFrequency	TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr22:20131116G>A	ENST00000334554.7	+	10	2104	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A563T|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A655T	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	655					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CAGCAGCAACGCCCCGGGGCC	0.726													G|||	252	0.0503195	0.0045	0.0101	5008	,	,		14224	0.0823		0.0527	False		,,,				2504	0.1053				p.A655T		.											.	ZDHHC8-91	0			c.G1963A						.	G	THR/ALA,THR/ALA	51,4313		0,51,2131	17	18	18		1963,1963	2.4	0.9	22	dbSNP_131	18	453,8131		15,423,3854	no	missense,missense	ZDHHC8	NM_001185024.1,NM_013373.3	58,58	15,474,5985	AA,AG,GG		5.2773,1.1687,3.8925	benign,benign	655/779,655/766	20131116	504,12444	2182	4292	6474	SO:0001583	missense	29801	exon10			AGCAACGCCCCGG	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1963G>A	22.37:g.20131116G>A	ENSP00000334490:p.Ala655Thr	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	47	39	NM_001185024	0	0	0	11	11	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	93	0.042582417582417584	2	0.0040650406504065045	4	0.011049723756906077	42	0.07342657342657342	45	0.059366754617414245	.	10.53	1.376581	0.24857	0.011687	0.052773	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.71934	1.4;-0.61;1.31	4.57	2.4	0.29515	.	0.643418	0.15734	N	0.247275	T	0.14485	0.0350	L	0.51422	1.61	0.33178	D	0.549168	P;B;B	0.44044	0.825;0.133;0.103	P;B;B	0.49502	0.613;0.026;0.017	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.5739	0.22553	0.1598:0.1473:0.6929:0.0	.	563;655;655	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	T	655;563;655	ENSP00000334490:A655T;ENSP00000317804:A563T;ENSP00000384716:A655T	ENSP00000317804:A563T	A	+	1	0	ZDHHC8	18511116	0.999000	0.42202	0.882000	0.34594	0.104000	0.19210	4.203000	0.58453	0.893000	0.36288	0.313000	0.20887	GCC	G|0.962;A|0.038		0.726	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		A	20131116	G	A	20131116	3	1	2	1	0	0	0	0	1	0	0	0	17669	1087	38	1	2001	1	ZDHHC8	22	20131116	Missense_Mutation	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10		20131116	31173450	94	150											
UPK3A	7380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	45691450	45691450	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttggacagggacatgggGagttctgatggggaaacgac	16	8	1	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chr22:45691450G>A	ENST00000216211.4	+	6	746	c.714G>A	c.(712-714)ggG>ggA	p.G238G	UPK3A_ENST00000396082.2_Silent_p.G117G	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	238					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)		GGGACATGGGGAGTTCTGATG	0.562																																					p.G238G		.											.	UPK3A-90	0			c.G714A						.						130	134	132					22																	45691450		2203	4300	6503	SO:0001819	synonymous_variant	7380	exon6			CATGGGGAGTTCT	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.714G>A	22.37:g.45691450G>A		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	55	45	NM_006953	0	0	0	0	0	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																			.		0.562	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		A	45691450	G	A	45691450	2	1	2	1	0	0	0	0	0	0	0	1	17059	1161	41	3		3	UPK3A	22	45691450	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	25560334	45691450	5613116	95	151											
FAM9A	171482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	8763159	8763159	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcttcctcttccTcttcttctgtttcttctcct	1	16	9	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:8763159T>A	ENST00000543214.1	-	7	926	c.791A>T	c.(790-792)gAg>gTg	p.E264V	FAM9A_ENST00000381003.3_Missense_Mutation_p.E264V	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	264	Glu-rich.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ttcctcttcctcttcttctgt	0.423																																					p.E264V		.											.	FAM9A-130	0			c.A791T						.						57	51	53					X																	8763159		2200	4299	6499	SO:0001583	missense	171482	exon7			TCTTCCTCTTCTT		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.791A>T	X.37:g.8763159T>A	ENSP00000440163:p.Glu264Val	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	48	7	NM_174951	0	0	0	0	0	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	4.453	0.083901	0.08583	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	.	.	.	.	.	.	.	.	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.14008	-1.0488	6	0.66056	D	0.02	.	.	.	.	.	264	Q8IZU1	FAM9A_HUMAN	V	264	.	ENSP00000370391:E264V	E	-	2	0	FAM9A	8723159	0.015000	0.18098	0.026000	0.17262	0.026000	0.11368	0.280000	0.18790	0.085000	0.17107	0.084000	0.15446	GAG	.		0.423	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		A	8763159	T	A	8763159	3	1	2	1	0	0	0	0	1	0	0	0	5681	1551	54	5	219	5	FAM9A	23	8763159	Missense_Mutation	SNP	T	TCGA-OR-A5J2-01A-11D-A29I-10		8763159	146507401	96	152											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053				p.23_24del		.											.	SRPX-130	2	Deletion - In frame(2)	prostate(2)	c.68_70del						.																																			SO:0001651	inframe_deletion	8406	exon1			GGACGCGCAGCAG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	Somatic	9	0	875	WXS	Illumina GAIIx	Phase_I	25	7	NM_001170751	0	0	0	0	0	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	CCDS14245.1																																																																																			-|1.000;|0.000		0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		-	38079978	GCA	-	38079976	7	5	2	1	0	1	0	1	0	0	0	0	15211	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-OR-A5J2-01A-11D-A29I-10	29316817	38079976	117190584	97	153											
BCOR	54880	broad.mit.edu;bcgsc.ca	37	chrX	39913284	39913284	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaaacatcatagccactttCatcatctggttctaatggag	6	9	5	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:39913284C>A	ENST00000378444.4	-	14	5059	c.4831G>T	c.(4831-4833)Gaa>Taa	p.E1611*	BCOR_ENST00000378463.1_Nonsense_Mutation_p.E454*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1559*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1577*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1577*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1611					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						TAGCCACTTTCATCATCTGGT	0.413			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.E1611X		.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR-229	0			c.G4831T						.						58	44	49					X																	39913284		2202	4300	6502	SO:0001587	stop_gained	54880	exon14			CACTTTCATCATC	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.4831G>T	X.37:g.39913284C>A	ENSP00000367705:p.Glu1611*	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	125	11	NM_001123385	0	0	0	0	0	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	47	13.331146	0.99735	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-21.9491	18.515	0.90933	0.0:1.0:0.0:0.0	.	.	.	.	X	481;454;1559;1577;1611;1577;284	.	ENSP00000345923:E1577X	E	-	1	0	BCOR	39798228	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	7.267000	0.78462	2.314000	0.78098	0.600000	0.82982	GAA	.		0.413	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39913284	C	A	39913284	4	1	2	1	0	0	0	0	0	1	0	0	1387	835	29	3	444	3	BCOR	23	39913284	Nonsense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	1833308	39913284	115357276	98	154											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	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)	.											.	NUDT10-90	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		Somatic	180	1		WXS	Illumina GAIIx	Phase_I	194	4	NM_153183	0	0	0	1	1	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	2	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-OR-A5J2-01A-11D-A29I-10	11162740	51076024	104194536	99	155											
TGIF2LX	90316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	89177681	89177681	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaggtttctgtcacatcCccgtcttctccagaacttgt	7	13	5	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:89177681C>A	ENST00000561129.2	+	1	727	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TGIF2LX_ENST00000283891.5_Silent_p.S199S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTGTCACATCCCCGTCTTCTC	0.562																																					p.S199S		.											.	TGIF2LX-92	0			c.C597A						.						74	78	77					X																	89177681		2203	4300	6503	SO:0001819	synonymous_variant	90316	exon2			CACATCCCCGTCT	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.597C>A	X.37:g.89177681C>A		Somatic	354	0		WXS	Illumina GAIIx	Phase_I	348	132	NM_138960	0	0	0	0	0	Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	CCDS14459.1																																																																																			.		0.562	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		A	89177681	C	A	89177681	2	1	2	1	0	0	0	0	0	0	0	1	15874	610	22	3		3	TGIF2LX	23	89177681	Silent	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	38101657	89177681	66092879	100	156											
ODZ1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123787622	123787622	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgtctatcgcccgtcCcttctgaaacactagtttta	6	13	2	1			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:123787622C>A	ENST00000371130.3	-	7	1243	c.1180G>T	c.(1180-1182)Gga>Tga	p.G394*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.G394*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	394					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)										ATCGCCCGTCCCTTCTGAAAC	0.388																																					p.G394X		.											.	.	0			c.G1180T						.						91	78	82					X																	123787622		2203	4300	6503	SO:0001587	stop_gained	10178	exon7			CCCGTCCCTTCTG	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.1180G>T	X.37:g.123787622C>A	ENSP00000360171:p.Gly394*	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	74	33	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608140	0.98387	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	18.6615	0.91473	0.0:1.0:0.0:0.0	.	.	.	.	X	394	.	ENSP00000360171:G394X	G	-	1	0	ODZ1	123615303	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.855000	0.75445	2.351000	0.79841	0.529000	0.55759	GGA	.		0.388	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123787622	C	A	123787622	4	1	2	1	0	0	0	0	0	1	0	0	10873	632	22	3	7122	3	ODZ1	23	123787622	Nonsense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	34609941	123787622	31482938	101	157											
FLNA	2316	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153577797	153577797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctcagccccaggccCttggccaccaccttgctggc	10	19	1	0			TCGA-OR-A5J2-01A-11D-A29I-10	TCGA-OR-A5J2-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d97c6076-7e4f-4dbe-85de-12bc0d84d8e8	367617cb-2dce-4769-bd48-49d49dd3d93a	g.chrX:153577797C>A	ENST00000369850.3	-	47	7925	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	FLNA_ENST00000369856.3_Missense_Mutation_p.K696N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2555N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2555N|FLNA_ENST00000344736.4_Missense_Mutation_p.K2523N|FLNA_ENST00000498491.1_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2563	Self-association site, tail.				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)					GCCCCAGGCCCTTGGCCACCA	0.652																																					p.K2563N		.											.	FLNA-599	0			c.G7689T						.						50	54	52					X																	153577797		1926	4114	6040	SO:0001583	missense	2316	exon47			CAGGCCCTTGGCC	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.7689G>T	X.37:g.153577797C>A	ENSP00000358866:p.Lys2563Asn	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	102	39	NM_001110556	0	0	102	102	0	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855069	0.32791	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.92	5.04	0.67666	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	L	0.56124	1.755	0.49389	D	0.999783	D;P;D;D	0.76494	0.999;0.692;0.984;0.984	D;P;P;P	0.78314	0.991;0.457;0.87;0.87	D	0.88649	0.3181	10	0.54805	T	0.06	.	9.969	0.41743	0.0:0.8413:0.0:0.1587	.	696;2555;2563;2563	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2555;2231;2555;2563;696;2523	ENSP00000353467:K2555N;ENSP00000416926:K2555N;ENSP00000358866:K2563N;ENSP00000358872:K696N;ENSP00000358863:K2523N	ENSP00000358863:K2523N	K	-	3	2	FLNA	153230991	0.969000	0.33509	1.000000	0.80357	0.146000	0.21551	0.180000	0.16860	1.242000	0.43836	0.529000	0.55759	AAG	.		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153577797	C	A	153577797	3	1	2	1	0	0	0	0	1	0	0	0	5955	680	24	3	262	3	FLNA	23	153577797	Missense_Mutation	SNP	C	TCGA-OR-A5J2-01A-11D-A29I-10	29790175	153577797	1692763	102	158											
TTLL10	254173	bcgsc.ca	37	chr1	1120431	1120431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcaaccgctacatcaGtgacacgttctggaaggccc	8	15	3	1	rs1320571	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:1120431G>A	ENST00000379290.1	+	13	1516	c.1343G>A	c.(1342-1344)aGt>aAt	p.S448N	TTLL10_ENST00000379289.1_Missense_Mutation_p.S448N|TTLL10_ENST00000379288.3_Missense_Mutation_p.S375N			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	448	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.		S -> N (in dbSNP:rs1320571).		cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTACATCAGTGACACGTTC	0.607													A|||	928	0.185304	0.3608	0.0562	5008	,	,		19922	0.1478		0.0517	False		,,,				2504	0.2157				p.S448N		.											.	TTLL10-153	0			c.G1343A						.	A	ASN/SER,ASN/SER	1416,2990	681.9+/-404.1	235,946,1022	97	75	83		1343,1124	4.5	0.7	1	dbSNP_88	83	452,8148	797.6+/-407.4	16,420,3864	yes	missense,missense	TTLL10	NM_001130045.1,NM_153254.2	46,46	251,1366,4886	AA,AG,GG		5.2558,32.138,14.3626	benign,benign	448/674,375/405	1120431	1868,11138	2203	4300	6503	SO:0001583	missense	254173	exon13			ACATCAGTGACAC	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1343G>A	1.37:g.1120431G>A	ENSP00000368592:p.Ser448Asn	Somatic	291	0		WXS	Illumina GAIIx	Phase_I	268	11	NM_001130045	0	0	0	0	0	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	CCDS44036.1	347	0.15888278388278387	199	0.40447154471544716	23	0.06353591160220995	89	0.1555944055944056	36	0.047493403693931395	A	8.390	0.839575	0.16891	0.32138	0.052558	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.05580	3.42;3.42;3.42	4.54	4.54	0.55810	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00972	-1.085	0.41513	P	0.011647999999999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42032	-0.9475	9	0.07644	T	0.81	.	8.3694	0.32406	0.9052:0.0:0.0948:0.0	rs1320571;rs1320571	375;448	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	N	448;448;375	ENSP00000368592:S448N;ENSP00000368591:S448N;ENSP00000368590:S375N	ENSP00000368590:S375N	S	+	2	0	TTLL10	1110294	1.000000	0.71417	0.746000	0.31095	0.003000	0.03518	6.435000	0.73412	0.789000	0.33779	-0.360000	0.07572	AGT	G|0.839;A|0.161		0.607	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		A	1120431	G	A	1120431	3	1	3	1	0	0	0	0	1	0	0	0	16772	1029	36	3	1381	3	TTLL10	1	1120431	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		1120431	248130190	1	159											
DVL1	1855	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	1273448	1273448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgggggtcccgggtaCtggtaggggtagccctgacc	19	10	0	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:1273448C>T	ENST00000378888.5	-	14	1907	c.1623G>A	c.(1621-1623)caG>caA	p.Q541Q	DVL1_ENST00000378891.5_Silent_p.Q516Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	541					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCCCGGGTACTGGTAGGGGT	0.677																																					p.Q516Q		.											.	DVL1-658	0			c.G1548A						.						14	20	18					1																	1273448		2186	4282	6468	SO:0001819	synonymous_variant	1855	exon14			CGGGTACTGGTAG	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1623G>A	1.37:g.1273448C>T		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	31	28	NM_004421	0	0	0	52	52	Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37																																																																																				.		0.677	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		T	1273448	C	T	1273448	2	4	3	1	0	0	0	0	0	0	0	1	4849	564	20	3		3	DVL1	1	1273448	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	153017	1273448	247977173	2	160											
ATAD3A	55210	hgsc.bcm.edu	37	chr1	1447693	1447693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggccccaagggtgaaggCgcggggccgccgccgccttt	17	14	0	1	rs541906634	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:1447693C>T	ENST00000378755.5	+	1	139	c.45C>T	c.(43-45)ggC>ggT	p.G15G	ATAD3A_ENST00000536055.1_5'Flank|ATAD3A_ENST00000378756.3_Silent_p.G15G	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	15	Required for interaction with the inner surface of the mitochondrial outer membrane.		G -> D (in dbSNP:rs2274435). {ECO:0000269|PubMed:15489334}.		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)		AGGGTGAAggcgcggggccgc	0.756													c|||	35	0.00698882	0.025	0.0029	5008	,	,		5907	0		0	False		,,,				2504	0				p.G15G		.											.	ATAD3A-91	0			c.C45T						.						2	3	2					1																	1447693		1313	3059	4372	SO:0001819	synonymous_variant	55210	exon1			TGAAGGCGCGGGG	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.45C>T	1.37:g.1447693C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	16	15	NM_001170535	0	0	0	1	1	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	CCDS31.1																																																																																			.		0.756	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		T	1447693	C	T	1447693	2	4	3	1	0	0	0	0	0	0	0	1	1074	755	27	1		1	ATAD3A	1	1447693	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	174245	1447693	247802928	3	161											
CDK11A	728642	ucsc.edu;bcgsc.ca	37	chr1	1638897	1638897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgagctcgatgggcAacagggcaggggagtcgggc	18	10	0	1	rs201956539		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:1638897A>G	ENST00000378633.1	-	11	1284	c.1205T>C	c.(1204-1206)tTg>tCg	p.L402S	CDK11A_ENST00000357760.2_Missense_Mutation_p.L398S|CDK11A_ENST00000356200.3_Missense_Mutation_p.L365S|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000358779.5_Missense_Mutation_p.L389S|CDK11A_ENST00000404249.3_Missense_Mutation_p.L399S|CDK11A_ENST00000378638.2_Missense_Mutation_p.L365S|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_3'UTR			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	402			L -> S (in dbSNP:rs1059828). {ECO:0000269|PubMed:8195233}.		apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTCGATGGGCAACAGGGCAGG	0.667																																					p.L399S	Pancreas(186;965 2119 30274 40311 50569)	.											.	CDK11A-14	0			c.T1196C						.						60	75	70					1																	1638897		2046	4165	6211	SO:0001583	missense	728642	exon11			ATGGGCAACAGGG	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1205T>C	1.37:g.1638897A>G	ENSP00000367900:p.Leu402Ser	Somatic	67	5		WXS	Illumina GAIIx	Phase_I	71	58	NM_024011	0	0	0	40	40	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37		.	.	.	.	.	.	.	.	.	.	-	0.252	-1.006077	0.02112	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62	2.94	2.94	0.34122	.	0.060786	0.64402	N	0.000002	T	0.01489	0.0048	N	0.01168	-0.975	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	0.45175	-0.9279	10	0.02654	T	1	.	9.1582	0.37005	0.1118:0.0:0.8882:0.0	.	399;389;399;389	B4E0M9;B4E0N4;Q9UQ88-2;Q9UQ88-4	.;.;.;.	S	365;399;398;389;402;365;365	ENSP00000348529:L365S;ENSP00000384442:L399S;ENSP00000350403:L398S;ENSP00000351629:L389S;ENSP00000367900:L402S;ENSP00000367905:L365S	ENSP00000348529:L365S	L	-	2	0	CDK11A	1628757	1.000000	0.71417	0.239000	0.24122	0.359000	0.29487	6.438000	0.73426	0.467000	0.27218	-0.495000	0.04643	TTG	A|0.998;G|0.002		0.667	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		G	1638897	A	G	1638897	3	3	3	1	0	0	0	0	1	0	0	0	3133	131	5	4	1186	4	CDK11A	1	1638897	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	191204	1638897	247611724	4	162											
AGMAT	79814	hgsc.bcm.edu	37	chr1	15911349	15911349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttccggggcgcGtcggaagcctggcggctctg	21	11	1	0	rs3737705	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2	3	3		114	-4.1	0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15911349	G	A	15911349	2	1	3	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15911349	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	14272452	15911349	233339272	5	163											
IL22RA1	58985	bcgsc.ca	37	chr1	24465113	24465113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtgtctggggtgccctcCggcccgctgtcccacgtcag	13	17	2	0	rs10903022	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:24465113C>T	ENST00000270800.1	-	2	173	c.135G>A	c.(133-135)ccG>ccA	p.P45P		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	45	Fibronectin type-III 1. {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)		GGGTGCCCTCCGGCCCGCTGT	0.582													C|||	2357	0.470647	0.261	0.5231	5008	,	,		20665	0.7619		0.3628	False		,,,				2504	0.5276				p.P45P		.											.	IL22RA1-91	0			c.G135A						.	C		1200,3206	418.3+/-338.2	167,866,1170	97	92	93		135	-5.4	0	1	dbSNP_120	93	3278,5322	490.9+/-373.0	635,2008,1657	no	coding-synonymous	IL22RA1	NM_021258.3		802,2874,2827	TT,TC,CC		38.1163,27.2356,34.4303		45/575	24465113	4478,8528	2203	4300	6503	SO:0001819	synonymous_variant	58985	exon2			GCCCTCCGGCCCG	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.135G>A	1.37:g.24465113C>T		Somatic	116	1		WXS	Illumina GAIIx	Phase_I	97	5	NM_021258	0	0	0	0	0	A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																			C|0.607;N|0.000		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			T	24465113	C	T	24465113	2	4	3	1	0	0	0	0	0	0	0	1	7700	639	23	1		1	IL22RA1	1	24465113	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	8553764	24465113	224785508	6	164											
KCNA3	3738	broad.mit.edu	37	chr1	111216299	111216299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagccccttggagtggcgcGacagcttgaagatgcggaag	16	10	0	2			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:111216299G>T	ENST00000369769.2	-	1	1356	c.1133C>A	c.(1132-1134)tCg>tAg	p.S378*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	378					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGAGTGGCGCGACAGCTTGAA	0.592																																					p.S378X		.											.	KCNA3-95	0			c.C1133A						.						108	107	107					1																	111216299		2203	4300	6503	SO:0001587	stop_gained	3738	exon1			TGGCGCGACAGCT	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1133C>A	1.37:g.111216299G>T	ENSP00000358784:p.Ser378*	Somatic	177	2		WXS	Illumina GAIIx	Phase_I	113	3	NM_002232	0	0	0	0	0	Q5VWN2	Nonsense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	39	7.465538	0.98302	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.47	5.47	0.80525	.	0.065309	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3206	0.94237	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000358784:S378X	S	-	2	0	KCNA3	111017822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.573000	0.86826	0.655000	0.94253	TCG	.		0.592	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216299	G	T	111216299	4	4	3	1	0	0	0	0	0	1	0	0	8031	1059	37	2	598	2	KCNA3	1	111216299	Nonsense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	86751186	111216299	138034322	7	165											
PDE4DIP	9659	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	145075687	145075687	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcggccgctgctgcccagCtcccggctggctccgggcgc	14	20	0	0	rs78401481	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:145075687C>G	ENST00000530740.1	-	1	214	c.176G>C	c.(175-177)aGc>aCc	p.S59T	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S59T|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.S59T|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.S59T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGCCCAGCTCCCGGCTGG	0.716			T	PDGFRB	MPD																																p.S59T		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.G176C						.	C	THR/SER	89,4295		0,89,2103	36	46	43		176	3.7	1	1	dbSNP_131	43	0,8572		0,0,4286	no	missense	PDE4DIP	NM_022359.5	58	0,89,6389	GG,GC,CC		0.0,2.0301,0.6869		59/311	145075687	89,12867	2192	4286	6478	SO:0001583	missense	9659	exon1			GCCCAGCTCCCGG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.176G>C	1.37:g.145075687C>G	ENSP00000435654:p.Ser59Thr	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	115	20	NM_022359	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37		.	.	.	.	.	.	.	.	.	.	C	9.674	1.147602	0.21288	0.020301	0.0	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.14516	3.89;3.87;2.5	3.72	3.72	0.42706	.	.	.	.	.	T	0.12603	0.0306	N	0.24115	0.695	0.24548	N	0.994038	D;P	0.76494	0.999;0.956	D;P	0.80764	0.994;0.899	T	0.10245	-1.0638	9	0.87932	D	0	.	11.1867	0.48660	0.0:1.0:0.0:0.0	.	59;59	Q5TB27;E9PJ64	.;.	T	59	ENSP00000435654:S59T;ENSP00000358366:S59T;ENSP00000358354:S59T	ENSP00000358351:S59T	S	-	2	0	PDE4DIP	143787044	1.000000	0.71417	0.995000	0.50966	0.257000	0.26127	2.114000	0.41911	2.068000	0.61886	0.561000	0.74099	AGC	C|0.989;G|0.011		0.716	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		G	145075687	C	G	145075687	3	3	3	1	0	0	0	0	1	0	0	0	11682	797	28	3	8636	3	PDE4DIP	1	145075687	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	33859388	145075687	104174934	8	166											
NES	10763	bcgsc.ca	37	chr1	156640503	156640503	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccaagggtctctgctcttCccaggcagctcggagaactc	10	15	2	1	rs3828043	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:156640503C>T	ENST00000368223.3	-	4	3609	c.3477G>A	c.(3475-3477)ggG>ggA	p.G1159G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1159	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)					CTCTGCTCTTCCCAGGCAGCT	0.632													C|||	1121	0.223842	0.0159	0.2867	5008	,	,		15993	0.2946		0.3022	False		,,,				2504	0.3067				p.G1159G		.											.	NES-520	0			c.G3477A						.	C		279,4127	155.2+/-188.4	9,261,1933	61	66	64		3477	0.5	0	1	dbSNP_107	64	2458,6142	399.7+/-346.5	352,1754,2194	no	coding-synonymous	NES	NM_006617.1		361,2015,4127	TT,TC,CC		28.5814,6.3323,21.0441		1159/1622	156640503	2737,10269	2203	4300	6503	SO:0001819	synonymous_variant	10763	exon4			GCTCTTCCCAGGC	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.3477G>A	1.37:g.156640503C>T		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_006617	0	0	3	3	0	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																			C|0.787;T|0.213		0.632	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156640503	C	T	156640503	2	4	3	1	0	0	0	0	0	0	0	1	10376	842	30	3		3	NES	1	156640503	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	11564816	156640503	92610118	9	167											
RNASEL	6041	bcgsc.ca	37	chr1	182554557	182554557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatagatgacaggacatttCgggcaaattcatcttcctca	7	9	3	2	rs486907	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:182554557C>T	ENST00000367559.3	-	2	1638	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	RNASEL_ENST00000444138.1_Missense_Mutation_p.R462Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.R462Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (risk factor for prostate cancer; reduced enzymatic activity; dbSNP:rs486907). {ECO:0000269|PubMed:11799394, ECO:0000269|PubMed:11941539, ECO:0000269|PubMed:17344846}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGGACATTTCGGGCAAATTC	0.453													C|||	1155	0.230631	0.0666	0.2233	5008	,	,		20473	0.2421		0.3708	False		,,,				2504	0.3016				p.R462Q		.											.	RNASEL-336	0			c.G1385A	GRCh37	CM020962	RNASEL	M	rs486907	.	C	GLN/ARG	587,3819	257.7+/-262.0	42,503,1658	129	127	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1385	0.1	0	1	dbSNP_83	128	3065,5535	471.5+/-368.1	516,2033,1751	yes	missense	RNASEL	NM_021133.3	43	558,2536,3409	TT,TC,CC		35.6395,13.3227,28.0793	probably-damaging	462/742	182554557	3652,9354	2203	4300	6503	SO:0001583	missense	6041	exon2			ACATTTCGGGCAA	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1385G>A	1.37:g.182554557C>T	ENSP00000356530:p.Arg462Gln	Somatic	241	3		WXS	Illumina GAIIx	Phase_I	212	8	NM_021133	0	0	2	2	0	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	533	0.24404761904761904	26	0.052845528455284556	93	0.2569060773480663	135	0.23601398601398602	279	0.36807387862796836	C	22.0	4.225120	0.79576	0.133227	0.356395	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000543858;ENST00000539397	T;T;T	0.20463	2.07;2.07;2.07	5.95	0.0561	0.14318	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.497265	0.17966	N	0.156039	T	0.00012	0.0000	M	0.76574	2.34	0.80722	P	0.0	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.59825	0.864;0.864;0.864	T	0.36138	-0.9760	9	0.18276	T	0.48	-4.1493	0.4865	0.00557	0.1814:0.2702:0.1788:0.3696	rs486907;rs3738580;rs52825450;rs60634396;rs486907	462;462;462	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Q	462;462;106;462	ENSP00000356530:R462Q;ENSP00000411147:R462Q;ENSP00000440844:R462Q	ENSP00000356530:R462Q	R	-	2	0	RNASEL	180821180	0.001000	0.12720	0.001000	0.08648	0.188000	0.23474	0.217000	0.17603	0.102000	0.17638	0.650000	0.86243	CGA	C|0.737;T|0.263		0.453	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		T	182554557	C	T	182554557	3	4	3	1	0	0	0	0	1	0	0	0	13461	884	31	1	864	1	RNASEL	1	182554557	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	25914054	182554557	66696064	10	168											
CAPN2	824	bcgsc.ca	37	chr1	223933079	223933079	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaaggacggggagctgctCtttgtgcattcagccgaagg	14	10	2	0	rs17598	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:223933079C>T	ENST00000295006.5	+	4	807	c.498C>T	c.(496-498)ctC>ctT	p.L166L	CAPN2_ENST00000433674.2_Silent_p.L88L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	166	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGGAGCTGCTCTTTGTGCATT	0.617													C|||	1378	0.27516	0.6437	0.268	5008	,	,		18108	0.1905		0.0984	False		,,,				2504	0.0511				p.L166L		.											.	CAPN2-523	0			c.C498T						.	C	,	2335,2071	607.3+/-390.9	602,1131,470	93	95	94		264,498	-2	1	1	dbSNP_63	94	808,7792	187.4+/-234.7	36,736,3528	no	coding-synonymous,coding-synonymous	CAPN2	NM_001146068.1,NM_001748.4	,	638,1867,3998	TT,TC,CC		9.3953,47.0041,24.1658	,	88/623,166/701	223933079	3143,9863	2203	4300	6503	SO:0001819	synonymous_variant	824	exon4			GCTGCTCTTTGTG	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.498C>T	1.37:g.223933079C>T		Somatic	168	2		WXS	Illumina GAIIx	Phase_I	114	5	NM_001748	0	0	40	40	0	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	CCDS31035.1																																																																																			C|0.742;T|0.258		0.617	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		T	223933079	C	T	223933079	2	4	3	1	0	0	0	0	0	0	0	1	2634	900	32	3		3	CAPN2	1	223933079	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	41378522	223933079	25317542	11	169											
PSEN2	5664	bcgsc.ca	37	chr1	227077809	227077809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagagaaatgagccCatattccctgccctgatata	9	12	0	3	rs75733498	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:227077809C>T	ENST00000366783.3	+	9	1297	c.861C>T	c.(859-861)ccC>ccT	p.P287P	PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000366782.1_Silent_p.P320P|PSEN2_ENST00000472139.2_Silent_p.P143P|PSEN2_ENST00000422240.2_Silent_p.P287P|PSEN2_ENST00000391872.2_Silent_p.P320P	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	287					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)				GAAATGAGCCCATATTCCCTG	0.577													C|||	146	0.0291534	0	0.0562	5008	,	,		17530	0.0635		0	False		,,,				2504	0.044				p.P287P		.											.	PSEN2-658	0			c.C861T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	146	126	133		861,861	3	1	1	dbSNP_132	133	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	PSEN2	NM_000447.2,NM_012486.2	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	287/449,287/448	227077809	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5664	exon9			TGAGCCCATATTC	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.861C>T	1.37:g.227077809C>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	90	5	NM_012486	0	0	22	22	0	A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	CCDS1556.1																																																																																			C|0.993;T|0.007		0.577	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		T	227077809	C	T	227077809	2	4	3	1	0	0	0	0	0	0	0	1	12693	581	21	3		3	PSEN2	1	227077809	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	3144730	227077809	22172812	12	170											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	3	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	1426861	228504670	20745951	13	171											
TP53I3	9540	broad.mit.edu	37	chr2	24307079	24307079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattaagtccgcccggtTcagggcgctggccgccacct	12	16	1	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:24307079T>G	ENST00000238721.4	-	1	972	c.118A>C	c.(118-120)Aac>Cac	p.N40H	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Missense_Mutation_p.N40H|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Missense_Mutation_p.N40H|TP53I3_ENST00000335934.4_Missense_Mutation_p.N40H	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	40					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGCCCGGTTCAGGGCGCTG	0.662											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N40H		.											.	TP53I3-226	0			c.A118C						.						34	35	35					2																	24307079		2203	4300	6503	SO:0001583	missense	9540	exon2			CCCGGTTCAGGGC	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.118A>C	2.37:g.24307079T>G	ENSP00000238721:p.Asn40His	Somatic	41	0	770	WXS	Illumina GAIIx	Phase_I	50	5	NM_147184	0	0	5	5	0	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548787	0.86127	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.04	5.04	0.67666	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	H	0.97758	4.07	0.43868	D	0.996472	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.59658	-0.7413	10	0.87932	D	0	-0.0071	13.8895	0.63729	0.0:0.0:0.0:1.0	.	40;40	Q53FA7;Q53FA7-2	QORX_HUMAN;.	H	40;40;40;40;35	ENSP00000337834:N40H;ENSP00000238721:N40H;ENSP00000322298:N40H;ENSP00000384414:N40H;ENSP00000389620:N35H	ENSP00000238721:N40H	N	-	1	0	TP53I3	24160583	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	6.807000	0.75201	2.036000	0.60181	0.533000	0.62120	AAC	.		0.662	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		G	24307079	T	G	24307079	3	3	3	1	0	0	0	0	1	0	0	0	16435	1783	62	5	900	5	TP53I3	2	24307079	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10		24307079	218892294	14	172											
GPR113	165082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	26537397	26537397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggacagctggtatggAagtcgagccacatctgtcgc	14	9	1	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:26537397A>G	ENST00000311519.1	-	7	1016	c.1017T>C	c.(1015-1017)ctT>ctC	p.L339L	GPR113_ENST00000459892.1_Intron|GPR113_ENST00000333478.6_Silent_p.L140L|GPR113_ENST00000421160.2_Silent_p.L270L|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	339					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)					GCTGGTATGGAAGTCGAGCCA	0.612																																					p.L339L		.											.	GPR113-94	0			c.T1017C						.						125	100	108					2																	26537397		2203	4300	6503	SO:0001819	synonymous_variant	165082	exon7			GTATGGAAGTCGA	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.1017T>C	2.37:g.26537397A>G		Somatic	380	2		WXS	Illumina GAIIx	Phase_I	317	276	NM_001145168	0	0	0	0	0	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																			.		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		G	26537397	A	G	26537397	2	3	3	1	0	0	0	0	0	0	0	1	6656	233	9	4		4	GPR113	2	26537397	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	2230318	26537397	216661976	15	173											
IMMT	10989	ucsc.edu;bcgsc.ca	37	chr2	86400824	86400824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttggagttgtgaggcagGctgtttagattctttcatta	11	4	2	2	rs1050301	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:86400824G>A	ENST00000410111.3	-	4	757	c.370C>T	c.(370-372)Cct>Tct	p.P124S	IMMT_ENST00000409051.2_Missense_Mutation_p.P124S|IMMT_ENST00000449247.2_Missense_Mutation_p.P124S|IMMT_ENST00000490238.1_5'Flank|IMMT_ENST00000442664.2_Missense_Mutation_p.P124S|IMMT_ENST00000254636.5_Missense_Mutation_p.P37S	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	124			P -> S (in dbSNP:rs6750289). {ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9168817}.		mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGAGGCAGGCTGTTTAGAT	0.328													G|||	1649	0.329273	0.0219	0.4236	5008	,	,		16353	0.5069		0.3628	False		,,,				2504	0.4601				p.P124S		.											.	IMMT-91	0			c.C370T						.	G	SER/PRO,SER/PRO,SER/PRO	331,3325		11,309,1508	144	120	127		370,370,370	3.4	1	2	dbSNP_86	127	2750,5406		456,1838,1784	no	missense,missense,missense	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	74,74,74	467,2147,3292	AA,AG,GG		33.7175,9.0536,26.0836	possibly-damaging,possibly-damaging,possibly-damaging	124/758,124/748,124/759	86400824	3081,8731	1828	4078	5906	SO:0001583	missense	10989	exon4			AGGCAGGCTGTTT	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.370C>T	2.37:g.86400824G>A	ENSP00000387262:p.Pro124Ser	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_006839	0	0	51	51	0	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	725|725	0.33195970695970695|0.33195970695970695	6|6	0.012195121951219513|0.012195121951219513	151|151	0.4171270718232044|0.4171270718232044	286|286	0.5|0.5	282|282	0.3720316622691293|0.3720316622691293	G|G	18.35|18.35	3.604107|3.604107	0.66445|0.66445	0.090536|0.090536	0.337175|0.337175	ENSG00000132305|ENSG00000132305	ENST00000419070|ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	.|T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52	3.43|3.43	3.43|3.43	0.39272|0.39272	.|.	.|0.176656	.|0.51477	.|D	.|0.000090	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	P|P	0.9999999284871|0.9999999284871	.|P;P;P;B;B;P;B;P	.|0.52061	.|0.938;0.747;0.95;0.147;0.007;0.938;0.007;0.95	.|P;P;P;B;B;P;B;P	.|0.58266	.|0.747;0.679;0.836;0.153;0.065;0.747;0.065;0.836	T|T	0.48536|0.48536	-0.9027|-0.9027	4|9	.|0.14656	.|T	.|0.56	-9.876|-9.876	13.8948|13.8948	0.63764|0.63764	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs6750289;rs6750289|rs6750289;rs6750289	.|124;124;124;124;124;124;124;124	.|F5GZ32;B9A067;B4DKR1;Q05DN3;F8W9I1;Q16891-2;Q16891-3;Q16891	.|.;.;.;.;.;.;.;IMMT_HUMAN	V|S	21|37;124;124;124;124;124;124;124;124	.|ENSP00000254636:P37S;ENSP00000396899:P124S;ENSP00000387262:P124S;ENSP00000407788:P124S;ENSP00000387227:P124S	.|ENSP00000254636:P37S	A|P	-|-	2|1	0|0	IMMT|IMMT	86254335|86254335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.063000|6.063000	0.71162|0.71162	1.836000|1.836000	0.53414|0.53414	0.561000|0.561000	0.74099|0.74099	GCC|CCT	T|0.226;G|0.216;C|0.446;N|0.001;A|0.111		0.328	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		A	86400824	G	A	86400824	3	1	3	1	0	0	0	0	1	0	0	0	7745	1203	42	3	1954	3	IMMT	2	86400824	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	59863427	86400824	156798549	16	174											
LIMS1	3987	ucsc.edu	37	chr2	109293130	109293130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgagaggaaaggcctggcAtattgtgaaactcactataa	10	6	1	2	rs2438733	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:109293130A>G	ENST00000393310.1	+	7	881	c.714A>G	c.(712-714)gcA>gcG	p.A238A	LIMS1_ENST00000410093.1_Silent_p.A242A|LIMS1_ENST00000544547.1_Silent_p.A250A|LIMS1_ENST00000409441.1_Silent_p.A275A|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000338045.3_Silent_p.A238A|LIMS1_ENST00000542845.1_Silent_p.A300A|LIMS1_ENST00000332345.6_Silent_p.A238A	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	238	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						AAGGCCTGGCATATTGTGAAA	0.373																																					p.A300A		.											.	LIMS1-522	0			c.A900G						.						58	45	50					2																	109293130		2104	3948	6052	SO:0001819	synonymous_variant	3987	exon7			CCTGGCATATTGT		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.714A>G	2.37:g.109293130A>G		Somatic	263	4		WXS	Illumina GAIIx	Phase_I	50	10	NM_001193485	0	0	0	4	4	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	CCDS2078.1																																																																																			A|0.500;G|0.500		0.373	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		G	109293130	A	G	109293130	2	3	3	1	0	0	0	0	0	0	0	1	8832	204	8	4		4	LIMS1	2	109293130	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	22892306	109293130	133906243	17	175											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	3	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	1079062	110372192	132827181	18	176											
C2orf54	79919	hgsc.bcm.edu	37	chr2	241827798	241827798	+	Missense_Mutation	SNP	T	T	C													cgccttgagcccggagccgaTgcgcggcggggggctgcggc					rs11899555	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:241827798T>C	ENST00000388934.4	-	4	1320	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	C2orf54_ENST00000307486.8_Missense_Mutation_p.I239V|C2orf54_ENST00000402775.2_Missense_Mutation_p.I220V	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	388										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCGGAGCCGATGCGCGGCGGG	0.711													T|||	1192	0.238019	0.5356	0.0994	5008	,	,		10641	0.1766		0.0954	False		,,,				2504	0.1442				p.I388V		.											.	C2orf54-90	0			c.A1162G						.	T	VAL/ILE,VAL/ILE	1174,2058		185,804,627	4	5	5		1162,658	-5.4	0	2	dbSNP_120	5	504,6652		22,460,3096	yes	missense,missense	C2orf54	NM_001085437.1,NM_024861.2	29,29	207,1264,3723	CC,CT,TT		7.043,36.3243,16.1533	benign,benign	388/448,220/280	241827798	1678,8710	1616	3578	5194	SO:0001583	missense	79919	exon4			AGCCGATGCGCGG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1162A>G	2.37:g.241827798T>C	ENSP00000373586:p.Ile388Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	443	0.20283882783882784	254	0.516260162601626	34	0.09392265193370165	81	0.14160839160839161	74	0.09762532981530343	T	4.846	0.157297	0.09236	0.363243	0.07043	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.42900	0.96;1.52;1.54	4.61	-5.43	0.02632	.	0.927650	0.08993	N	0.864092	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.48186	-0.9057	9	0.87932	D	0	0.0087	6.4354	0.21821	0.0:0.3174:0.3681:0.3145	rs11899555	388;239;220	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	V	220;239;388	ENSP00000385338:I220V;ENSP00000302779:I239V;ENSP00000373586:I388V	ENSP00000302779:I239V	I	-	1	0	C2orf54	241476471	0.000000	0.05858	0.013000	0.15412	0.076000	0.17211	-0.609000	0.05635	-0.841000	0.04200	0.477000	0.44152	ATC	T|0.796;C|0.204		0.711	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		C	241827798	T	C	241827798	3	2	3	1	0	0	0	0	1	0	0	0	2182	1464	51	4	189	4	C2orf54	2	241827798	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	131455606	241827798	1371575	19	177	4	2									
C2orf54	79919	hgsc.bcm.edu	37	chr2	241827805	241827805	+	Silent	SNP	C	C	A													agcccggagccgatgcgcggCggggggctgcggcccaggtg					rs75895045	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr2:241827805C>A	ENST00000388934.4	-	4	1313	c.1155G>T	c.(1153-1155)ccG>ccT	p.P385P	C2orf54_ENST00000307486.8_Silent_p.P236P|C2orf54_ENST00000402775.2_Silent_p.P217P	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	385										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGATGCGCGGCGGGGGGCTGC	0.711													C|||	339	0.0676917	0.2443	0.0216	5008	,	,		10617	0		0	False		,,,				2504	0.001				p.P385P		.											.	C2orf54-90	0			c.G1155T						.						4	5	5					2																	241827805		1595	3562	5157	SO:0001819	synonymous_variant	79919	exon4			GCGCGGCGGGGGG	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1155G>T	2.37:g.241827805C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			C|0.942;A|0.058		0.711	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		A	241827805	C	A	241827805	2	1	3	1	0	0	0	0	0	0	0	1	2182	755	27	2		2	C2orf54	2	241827805	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	7	241827805	1371568	20	178	4	2									
PLCD1	5333	broad.mit.edu	37	chr3	38050645	38050645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttgtggcggacaaagccGtttcctgaggggaggtgtgg	18	7	0	1	rs377656276		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:38050645G>A	ENST00000334661.4	-	11	1833	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	PLCD1_ENST00000463876.1_Silent_p.N558N|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	537	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGACAAAGCCGTTTCCTGAGG	0.607																																					p.N558N		.											.	PLCD1-226	0			c.C1674T						.						57	53	55					3																	38050645		2203	4300	6503	SO:0001819	synonymous_variant	5333	exon11			AAAGCCGTTTCCT		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1611C>T	3.37:g.38050645G>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	97	3	NM_001130964	0	0	0	0	0	B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	CCDS2671.1																																																																																			.		0.607	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			A	38050645	G	A	38050645	2	1	3	1	0	0	0	0	0	0	0	1	12070	1136	40	1		1	PLCD1	3	38050645	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		38050645	159971785	21	179											
SETD2	29072	broad.mit.edu	37	chr3	47163592	47163592	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcttcacatgcaaattttGagtgatctgtcaaatttcta	5	7	5	2	rs201639149		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:47163592G>C	ENST00000409792.3	-	3	2576	c.2534C>G	c.(2533-2535)tCa>tGa	p.S845*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	845					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)			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)		TGCAAATTTTGAGTGATCTGT	0.333			"N, F, S, Mis"		clear cell renal carcinoma								G|||	1	0.000199681	0	0	5008	,	,		22356	0		0.001	False		,,,				2504	0				p.S845X		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	SETD2-1273	0			c.C2534G						.						51	54	53					3																	47163592		2203	4300	6503	SO:0001587	stop_gained	29072	exon3			AATTTTGAGTGAT	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.2534C>G	3.37:g.47163592G>C	ENSP00000386759:p.Ser845*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	65	3	NM_014159	0	0	2	2	0	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	37	6.449598	0.97577	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	5.18	0.71444	.	0.144833	0.32120	N	0.006558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0467	0.86505	0.0:0.0:1.0:0.0	.	.	.	.	X	845;845;845;801	.	ENSP00000386759:S845X	S	-	2	0	SETD2	47138596	0.937000	0.31787	0.993000	0.49108	0.928000	0.56348	4.555000	0.60767	2.679000	0.91253	0.655000	0.94253	TCA	G|0.999;C|0.000		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47163592	G	C	47163592	4	2	3	1	0	0	0	0	0	1	0	0	14176	1294	45	3	5236	3	SETD2	3	47163592	Nonsense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	9112947	47163592	150858838	22	180											
TLR9	54106	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	52255624	52255624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggcacaggcggagtGcccagcgcccacggcactcc	12	19	0	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:52255624G>T	ENST00000360658.2	-	2	3341	c.2708C>A	c.(2707-2709)gCa>gAa	p.A903E	TLR9_ENST00000597542.1_Missense_Mutation_p.A927E|TLR9_ENST00000494383.1_Silent_p.G1056G	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	903	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)	CAGGCGGAGTGCCCAGCGCCC	0.622																																					p.A903E		.											.	TLR9-587	0			c.C2708A						.						79	87	84					3																	52255624		2203	4300	6503	SO:0001583	missense	54106	exon2			CGGAGTGCCCAGC	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.2708C>A	3.37:g.52255624G>T	ENSP00000353874:p.Ala903Glu	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	141	11	NM_017442	0	0	1	1	0	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205983	0.09704	.	.	ENSG00000239732	ENST00000360658	T	0.02323	4.34	5.08	0.968	0.19680	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.465830	0.16267	N	0.222000	T	0.04318	0.0119	L	0.52573	1.65	0.09310	N	1	P;D	0.56287	0.801;0.975	B;P	0.54499	0.339;0.754	T	0.31779	-0.9931	10	0.10902	T	0.67	.	2.7282	0.05220	0.0876:0.2731:0.3428:0.2966	.	1000;903	B4E0A1;Q9NR96	.;TLR9_HUMAN	E	903	ENSP00000353874:A903E	ENSP00000353874:A903E	A	-	2	0	TLR9	52230664	0.000000	0.05858	0.032000	0.17829	0.052000	0.14988	0.064000	0.14437	0.666000	0.31087	-0.182000	0.12963	GCA	.		0.622	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52255624	G	T	52255624	3	4	3	1	0	0	0	0	1	0	0	0	16005	1319	46	3	394	3	TLR9	3	52255624	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	5092032	52255624	145766806	23	181											
GPR171	29909	broad.mit.edu	37	chr3	150916947	150916947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttccaaggtgccacaCccaagtcaacaacaattttc	5	14	2	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:150916947C>T	ENST00000309180.5	-	3	457	c.227G>A	c.(226-228)gGt>gAt	p.G76D	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	76					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGCCACACCCAAGTCAAC	0.393																																					p.G76D		.											.	GPR171-90	0			c.G227A						.						89	88	88					3																	150916947		2203	4300	6503	SO:0001583	missense	29909	exon3			GCCACACCCAAGT	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.227G>A	3.37:g.150916947C>T	ENSP00000308479:p.Gly76Asp	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	192	4	NM_013308	0	0	0	0	0	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370889	0.61624	.	.	ENSG00000174946	ENST00000309180	T	0.72051	-0.62	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	L	0.36672	1.1	0.44067	D	0.996811	D	0.89917	1.0	D	0.83275	0.996	T	0.70839	-0.4763	10	0.14252	T	0.57	-10.7679	19.2521	0.93929	0.0:1.0:0.0:0.0	.	76	O14626	GP171_HUMAN	D	76	ENSP00000308479:G76D	ENSP00000308479:G76D	G	-	2	0	GPR171	152399637	0.999000	0.42202	0.994000	0.49952	0.767000	0.43475	4.243000	0.58721	2.542000	0.85734	0.655000	0.94253	GGT	.		0.393	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		T	150916947	C	T	150916947	3	4	3	1	0	0	0	0	1	0	0	0	6694	507	18	3	736	3	GPR171	3	150916947	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	98661323	150916947	47105483	24	182											
ETV5	2119	broad.mit.edu	37	chr3	185797720	185797720	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggctctggaagcgaaTggggggcgggggcggggccc	22	10	1	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:185797720T>G	ENST00000306376.5	-	7	782	c.536A>C	c.(535-537)cAt>cCt	p.H179P	ETV5_ENST00000434744.1_Missense_Mutation_p.H179P|ETV5_ENST00000537818.1_Missense_Mutation_p.H221P|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	179					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)			TGGAAGCGAATGGGGGGCGGG	0.617			T	"TMPRSS2, SCL45A3"	Prostate																																p.H179P		.		Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5-706	0			c.A536C						.						54	61	59					3																	185797720		2203	4300	6503	SO:0001583	missense	2119	exon7			AGCGAATGGGGGG	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.536A>C	3.37:g.185797720T>G	ENSP00000306894:p.His179Pro	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	44	9	NM_004454	0	0	7	7	0	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509461	0.27036	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.10860	2.86;2.86;2.83	5.32	5.32	0.75619	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.445754	0.24894	N	0.034741	T	0.12135	0.0295	N	0.25647	0.755	0.44123	D	0.996905	B;D	0.54207	0.0;0.965	B;P	0.49451	0.001;0.611	T	0.15206	-1.0445	10	0.28530	T	0.3	.	12.7886	0.57520	0.0:0.0:0.0:1.0	.	179;221	P41161;B7Z7D7	ETV5_HUMAN;.	P	179;179;221	ENSP00000306894:H179P;ENSP00000413755:H179P;ENSP00000441737:H221P	ENSP00000306894:H179P	H	-	2	0	ETV5	187280414	0.997000	0.39634	0.611000	0.29010	0.524000	0.34500	3.006000	0.49529	2.009000	0.58944	0.460000	0.39030	CAT	.		0.617	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		G	185797720	T	G	185797720	3	3	3	1	0	0	0	0	1	0	0	0	5298	1464	51	5	1024	5	ETV5	3	185797720	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	34880773	185797720	12224710	25	183											
LEPREL1	55214	bcgsc.ca	37	chr3	189713205	189713205	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaaatgtgtgagctgcTtccactgctttttcgagctg	10	9	0	1	rs9821880	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr3:189713205T>C	ENST00000319332.5	-	2	704	c.507A>G	c.(505-507)gaA>gaG	p.E169E	LEPREL1_ENST00000427335.2_5'UTR	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	169					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTGAGCTGCTTCCACTGCTT	0.408													T|||	1607	0.320887	0.2035	0.3069	5008	,	,		15965	0.4881		0.3002	False		,,,				2504	0.3384				p.E169E		.											.	LEPREL1-155	0			c.A507G						.	T	,	942,3464	342.5+/-307.2	94,754,1355	105	91	96		,507	4.1	1	3	dbSNP_119	96	2669,5931	416.4+/-352.1	435,1799,2066	no	utr-5,coding-synonymous	LEPREL1	NM_001134418.1,NM_018192.3	,	529,2553,3421	CC,CT,TT		31.0349,21.3799,27.7641	,	,169/709	189713205	3611,9395	2203	4300	6503	SO:0001819	synonymous_variant	55214	exon2			AGCTGCTTCCACT		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.507A>G	3.37:g.189713205T>C		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_018192	0	0	21	21	0	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	CCDS3294.1																																																																																			C|0.302;N|0.001		0.408	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		C	189713205	T	C	189713205	2	2	3	1	0	0	0	0	0	0	0	1	8758	1606	56	4		4	LEPREL1	3	189713205	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	3915485	189713205	8309225	26	184											
DSPP	1834	ucsc.edu	37	chr4	88537078	88537078	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagcagtgatagcagTgacagcagcaatagcagtga	13	6	0	4	rs367717407|rs373805744	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr4:88537078T>C	ENST00000282478.7	+	4	3297	c.3264T>C	c.(3262-3264)agT>agC	p.S1088S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1088S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagca	0.547													t|||	1148	0.229233	0.27	0.2536	5008	,	,		14971	0.2103		0.2237	False		,,,				2504	0.182				p.S1088S		.											.	DSPP-90	0			c.T3264C						.						21	26	24					4																	88537078		1113	2064	3177	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264T>C	4.37:g.88537078T>C		Somatic	392	6		WXS	Illumina GAIIx	Phase_I	286	12	NM_014208	0	0	0	0	0	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		C	88537078	T	C	88537078	2	2	3	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537078	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10		88537078	102617198	27	185											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13870993	13870993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggacgatttagtttcttattGaattcttcaataagcataaa	6	5	3	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:13870993G>T	ENST00000265104.4	-	24	3821	c.3717C>A	c.(3715-3717)ttC>ttA	p.F1239L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1239	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)					GTTTCTTATTGAATTCTTCAA	0.398									Kartagener syndrome																												p.F1239L		.											.	DNAH5-182	0			c.C3717A						.						103	102	102					5																	13870993		2203	4300	6503	SO:0001583	missense	1767	exon24	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CTTATTGAATTCT	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.3717C>A	5.37:g.13870993G>T	ENSP00000265104:p.Phe1239Leu	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	177	77	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139835	0.21205	.	.	ENSG00000039139	ENST00000265104	T	0.20332	2.08	5.84	4.97	0.65823	.	0.335523	0.34906	N	0.003599	T	0.05410	0.0143	N	0.00960	-1.095	0.24157	N	0.995675	B	0.02656	0.0	B	0.01281	0.0	T	0.41034	-0.9531	10	0.10636	T	0.68	.	5.5953	0.17323	0.2588:0.0:0.7412:0.0	.	1239	Q8TE73	DYH5_HUMAN	L	1239	ENSP00000265104:F1239L	ENSP00000265104:F1239L	F	-	3	2	DNAH5	13923993	0.221000	0.23642	1.000000	0.80357	0.990000	0.78478	0.298000	0.19120	2.760000	0.94817	0.655000	0.94253	TTC	.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13870993	G	T	13870993	3	4	3	1	0	0	0	0	1	0	0	0	4618	1281	45	3	10381	3	DNAH5	5	13870993	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		13870993	167044267	28	186											
SNX18	112574	hgsc.bcm.edu	37	chr5	53814052	53814052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgagcccctgccTgtcgcgccccccgcctcctt	12	20	0	0	rs2548615	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:53814052T>C	ENST00000326277.3	+	1	460	c.270T>C	c.(268-270)ccT>ccC	p.P90P	SNX18_ENST00000381410.4_Silent_p.P90P|SNX18_ENST00000343017.6_Silent_p.P90P	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	90					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCCCCTGCCTGTCGCGCCCC	0.791													N|||	4953	0.989018	0.9728	0.9942	5008	,	,		9287	1		0.9901	False		,,,				2504	0.9949				p.P90P		.											.	SNX18-226	0			c.T270C						.	C	,,	1635,19		808,19,0	1	2	2		270,270,270	-2.1	0.2	5	dbSNP_100	2	4035,67		1984,67,0	no	coding-synonymous,coding-synonymous,coding-synonymous	SNX18	NM_001102575.1,NM_001145427.1,NM_052870.2	,,	2792,86,0	CC,CT,TT		1.6333,1.1487,1.4941	,,	90/625,90/592,90/629	53814052	5670,86	827	2051	2878	SO:0001819	synonymous_variant	112574	exon1			CCTGCCTGTCGCG	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.270T>C	5.37:g.53814052T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_052870	0	0	0	0	0	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	CCDS3962.1																																																																																			G|0.979;C|0.003		0.791	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			C	53814052	T	C	53814052	2	2	3	1	0	0	0	0	0	0	0	1	14934	1567	55	4		4	SNX18	5	53814052	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	39943059	53814052	127101208	29	187											
PPWD1	23398	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	64878975	64878975	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctactcaagctgaaggaccTaaacgagtttcggacagtgc	11	10	1	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:64878975T>A	ENST00000261308.5	+	8	1533	c.1461T>A	c.(1459-1461)ccT>ccA	p.P487P	PPWD1_ENST00000538977.1_Silent_p.P331P|PPWD1_ENST00000535264.1_Silent_p.P457P	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	487					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CTGAAGGACCTAAACGAGTTT	0.403																																					p.P487P		.											.	PPWD1-91	0			c.T1461A						.						173	163	166					5																	64878975		2203	4300	6503	SO:0001819	synonymous_variant	23398	exon8			AGGACCTAAACGA	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1461T>A	5.37:g.64878975T>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	178	92	NM_015342	0	0	9	16	7	B4DWR9|Q15002|Q7KZ89	Silent	SNP	ENST00000261308.5	37	CCDS3985.1																																																																																			.		0.403	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		A	64878975	T	A	64878975	2	1	3	1	0	0	0	0	0	0	0	1	12456	1509	53	5		5	PPWD1	5	64878975	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	11064923	64878975	116036285	30	188											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	3	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	67270709	132149684	48765576	31	189											
PCDHA12	56137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140255099	140255099	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgggatcccagcgtctGctgctctcgcttctgctcct	11	17	3	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:140255099G>C	ENST00000398631.2	+	1	42	c.42G>C	c.(40-42)ctG>ctC	p.L14L	PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	14					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGTCTGCTGCTCTCGC	0.597																																					p.L14L	Pancreas(113;759 1672 13322 24104 50104)	.											.	.	0			c.G42C						.						34	40	38					5																	140255099		2200	4300	6500	SO:0001819	synonymous_variant	56137	exon1			GCGTCTGCTGCTC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.42G>C	5.37:g.140255099G>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	101	37	NM_018903	0	0	0	0	0	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			.		0.597	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		C	140255099	G	C	140255099	2	2	3	1	0	0	0	0	0	0	0	1	11561	1306	46	3		3	PCDHA12	5	140255099	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	8105415	140255099	40660161	32	190											
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595625	140595625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaggctggtggtgctgGtcaaggacaatggcgagcct	16	9	1	0	rs2910005	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:140595625G>A	ENST00000341948.4	+	1	2117	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711													G|||	602	0.120208	0.1036	0.0937	5008	,	,		15211	0.0933		0.1421	False		,,,				2504	0.1667				p.V644I		.											.	PCDHB13-93	0			c.G1930A						.						13	15	14					5																	140595625		1563	3249	4812	SO:0001583	missense	56123	exon1			GTGCTGGTCAAGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1930G>A	5.37:g.140595625G>A	ENSP00000345491:p.Val644Ile	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	106	38	NM_018933	0	0	32	33	1	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	263	0.12042124542124542	52	0.10569105691056911	43	0.11878453038674033	53	0.09265734265734266	115	0.1517150395778364	-	23.4	4.405720	0.83230	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.23552	1.9	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00300	0.0009	M	0.63843	1.955	0.27033	P	0.9641952	D	0.71674	0.998	D	0.63283	0.913	T	0.09314	-1.0680	8	0.72032	D	0.01	.	14.5914	0.68368	0.0:0.0:1.0:0.0	rs2910005	644	Q9Y5F0	PCDBD_HUMAN	I	644;644;590	ENSP00000345491:V644I	ENSP00000345491:V644I	V	+	1	0	PCDHB13	140575809	1.000000	0.71417	0.701000	0.30321	0.791000	0.44710	9.501000	0.97979	1.576000	0.49790	0.298000	0.19748	GTC	G|0.500;A|0.500		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140595625	G	A	140595625	3	1	3	1	0	0	0	0	1	0	0	0	11577	1261	44	3	1932	3	PCDHB13	5	140595625	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	340526	140595625	40319635	33	191											
HK3	3101	broad.mit.edu	37	chr5	176315851	176315851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggtacaggcctccgAtcatcttctcaaacctgcag	7	16	3	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr5:176315851A>G	ENST00000292432.5	-	9	1020	c.929T>C	c.(928-930)aTc>aCc	p.I310T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	310	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCCTCCGATCATCTTCTC	0.617																																					p.I310T		.											.	HK3-294	0			c.T929C						.						39	42	41					5																	176315851		2203	4300	6503	SO:0001583	missense	3101	exon9			CCTCCGATCATCT		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.929T>C	5.37:g.176315851A>G	ENSP00000292432:p.Ile310Thr	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	98	4	NM_002115	0	0	0	0	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.352162	0.24512	.	.	ENSG00000160883	ENST00000292432	D	0.98280	-4.84	5.32	5.32	0.75619	Hexokinase, C-terminal (1);	0.136551	0.34025	N	0.004330	D	0.97056	0.9038	L	0.52126	1.63	0.31673	N	0.644109	P	0.44690	0.841	P	0.45232	0.474	D	0.97927	1.0318	10	0.49607	T	0.09	.	14.9448	0.71023	1.0:0.0:0.0:0.0	.	310	P52790	HXK3_HUMAN	T	310	ENSP00000292432:I310T	ENSP00000292432:I310T	I	-	2	0	HK3	176248457	0.944000	0.32072	0.992000	0.48379	0.130000	0.20726	5.055000	0.64282	2.011000	0.59026	0.459000	0.35465	ATC	.		0.617	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			G	176315851	A	G	176315851	3	3	3	1	0	0	0	0	1	0	0	0	7219	333	12	4	1886	4	HK3	5	176315851	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	35720226	176315851	4599409	34	192											
VARS	7407	hgsc.bcm.edu	37	chr6	31762843	31762844	+	Missense_Mutation	DNP	GG	GG	CT													gcaggcggggtgggggaaagGgagtcctgctagtcgggggt					rs2607015|rs2753960|rs67600122	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr6:31762843_31762844GG>CT	ENST00000375663.3	-	2	591_592	c.151_152CC>AG	c.(151-153)CCc>AGc	p.P51S	LSM2_ENST00000491421.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	51			P -> R (in dbSNP:rs2607015).|P -> T (in dbSNP:rs2753960).	P -> S (in Ref. 1; CAA41990 and 7; AAH12808). {ECO:0000305}.	gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGGGGAAAGGGAGTCCTGCTA	0.733																																					p.P51S		.											.	VARS-93	0			c.C151A						.																																			SO:0001583	missense	7407	exon2			GAAAGGGAGTCCT	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.151_152delinsCT	6.37:g.31762843_31762844delinsCT	ENSP00000364815:p.Pro51Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	0	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	DNP	ENST00000375663.3	37	CCDS34412.1																																																																																			G|0.721;T|0.279		0.733	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		CT	31762844	GG	CT	31762843	3	2	3	1	0	0	0	0	1	0	0	0	17172	1232	43	3	3758	3	VARS	6	31762843	Missense_Mutation	DNP	GG	TCGA-OR-A5J3-01A-11D-A29I-10		31762843	139352224	35	193											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	3	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	7519193	39282036	131833031	36	194											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51920393	51920393	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgctactcacgtgtgtatActgatctagccgatagccct	8	12	2	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr6:51920393A>T	ENST00000371117.3	-	19	2103	c.1828T>A	c.(1828-1830)Tat>Aat	p.Y610N	PKHD1_ENST00000340994.4_Missense_Mutation_p.Y610N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	610					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)					ACGTGTGTATACTGATCTAGC	0.542																																					p.Y610N		.											.	PKHD1-603	0			c.T1828A						.						59	53	55					6																	51920393		2203	4300	6503	SO:0001583	missense	5314	exon19			GTGTATACTGATC	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.1828T>A	6.37:g.51920393A>T	ENSP00000360158:p.Tyr610Asn	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	108	93	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.481953	0.63849	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.27;-2.27	5.53	3.13	0.36017	.	0.398297	0.24059	N	0.041924	D	0.87884	0.6290	M	0.70275	2.135	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80892	-0.1179	10	0.72032	D	0.01	.	8.2084	0.31469	0.843:0.0:0.157:0.0	.	610;610	P08F94-2;P08F94	.;PKHD1_HUMAN	N	610	ENSP00000360158:Y610N;ENSP00000341097:Y610N	ENSP00000341097:Y610N	Y	-	1	0	PKHD1	52028352	0.008000	0.16893	0.000000	0.03702	0.333000	0.28666	1.329000	0.33770	0.479000	0.27511	-0.256000	0.11100	TAT	.		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51920393	A	T	51920393	3	4	3	1	0	0	0	0	1	0	0	0	12010	391	14	5	10631	5	PKHD1	6	51920393	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	12638357	51920393	119194674	37	195											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	3	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	47362983	99283376	71831691	38	196											
GBX1	2636	hgsc.bcm.edu	37	chr7	150864240	150864240	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggggttgtttcgggcGgcagtggcggcggcggcggc	23	10	0	0	rs13241978	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr7:150864240G>C	ENST00000297537.4	-	1	395	c.396C>G	c.(394-396)gcC>gcG	p.A132A	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	132	Ala-rich.|Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTTCGggcggcagtggcgg	0.751													G|||	1447	0.288938	0.3971	0.3069	5008	,	,		9229	0.3433		0.2217	False		,,,				2504	0.1431				p.A132A		.											.	GBX1-68	0			c.C396G						.	G		1127,2329		197,733,798	7	10	9		396	0.2	0	7	dbSNP_121	9	1736,6108		240,1256,2426	no	coding-synonymous	GBX1	NM_001098834.1		437,1989,3224	CC,CG,GG		22.1316,32.61,25.3363		132/364	150864240	2863,8437	1728	3922	5650	SO:0001819	synonymous_variant	2636	exon1			TCGGGCGGCAGTG	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.396C>G	7.37:g.150864240G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	18	11	NM_001098834	0	0	0	0	0		Silent	SNP	ENST00000297537.4	37	CCDS43682.1																																																																																			G|0.699;C|0.301		0.751	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			C	150864240	G	C	150864240	2	2	3	1	0	0	0	0	0	0	0	1	6305	1103	39	2		2	GBX1	7	150864240	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		150864240	8274423	39	197											
SGK223	157285	broad.mit.edu	37	chr8	8239069	8239069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcggcagttctcaggCctgggaggcaggcgcggtgg	19	11	1	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr8:8239069C>A	ENST00000520004.1	-	2	453	c.189G>T	c.(187-189)agG>agT	p.R63S	SGK223_ENST00000330777.4_Missense_Mutation_p.R63S			Q86YV5	SG223_HUMAN		63							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGTTCTCAGGCCTGGGAGGCA	0.657																																					p.R63S	GBM(34;731 755 10259 33573 33867)	.											.	.	0			c.G189T						.						48	49	49					8																	8239069		2004	4157	6161	SO:0001583	missense	0	exon1			CTCAGGCCTGGGA																												ENST00000520004.1:c.189G>T	8.37:g.8239069C>A	ENSP00000428054:p.Arg63Ser	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	89	4	NM_001080826	0	0	0	0	0	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236881	0.39498	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59083	0.29;0.29	4.49	2.69	0.31865	.	0.226672	0.30658	N	0.009160	T	0.41696	0.1170	L	0.38531	1.155	0.27832	N	0.941416	B	0.31968	0.349	B	0.24701	0.055	T	0.44802	-0.9304	10	0.72032	D	0.01	.	8.2345	0.31618	0.0:0.7459:0.0:0.2541	.	63	Q86YV5	SG223_HUMAN	S	63	ENSP00000330930:R63S;ENSP00000428054:R63S	ENSP00000330930:R63S	R	-	3	2	AC068353.1	8276479	1.000000	0.71417	0.887000	0.34795	0.775000	0.43874	0.980000	0.29513	1.272000	0.44329	-0.230000	0.12252	AGG	.		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8239069	C	A	8239069	3	1	3	1	0	0	0	0	1	0	0	0	14255	738	26	3	4039	3	SGK223	8	8239069	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		8239069	138124953	40	198											
KCNB2	9312	broad.mit.edu	37	chr8	73850257	73850257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagatggaaaatcacttGtttgccccagaaattcattc	7	9	2	2			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr8:73850257G>T	ENST00000523207.1	+	3	3255	c.2667G>T	c.(2665-2667)ttG>ttT	p.L889F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	889					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)	AAAATCACTTGTTTGCCCCAG	0.428																																					p.L889F		.											.	KCNB2-158	0			c.G2667T						.						89	87	88					8																	73850257		2203	4300	6503	SO:0001583	missense	9312	exon3			TCACTTGTTTGCC	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.2667G>T	8.37:g.73850257G>T	ENSP00000430846:p.Leu889Phe	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	205	5	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784400	0.49997	.	.	ENSG00000182674	ENST00000523207	D	0.97279	-4.32	5.34	4.47	0.54385	.	2.526390	0.02322	N	0.073063	D	0.95758	0.8620	N	0.14661	0.345	0.39037	D	0.960054	D	0.57899	0.981	P	0.52514	0.701	D	0.87994	0.2751	10	0.66056	D	0.02	.	10.8243	0.46622	0.164:0.0:0.836:0.0	.	889	Q92953	KCNB2_HUMAN	F	889	ENSP00000430846:L889F	ENSP00000430846:L889F	L	+	3	2	KCNB2	74012811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.720000	0.47252	1.466000	0.48025	0.591000	0.81541	TTG	.		0.428	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73850257	G	T	73850257	3	4	3	1	0	0	0	0	1	0	0	0	8040	1368	48	3	2673	3	KCNB2	8	73850257	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	65611188	73850257	72513765	41	199											
E2F5	1875	hgsc.bcm.edu	37	chr8	86089787	86089787	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgcagctcgggggcgcCgggggcggcagcagcaggca	20	15	0	0	rs12926	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr8:86089787C>G	ENST00000416274.2	+	1	166	c.132C>G	c.(130-132)gcC>gcG	p.A44A	E2F5_ENST00000418930.2_Silent_p.A44A|E2F5_ENST00000256117.5_Silent_p.A44A|RP11-219B4.3_ENST00000520129.1_RNA|RP11-219B4.7_ENST00000566000.1_RNA|RP11-219B4.7_ENST00000562577.1_RNA	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	44					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCGGGGGCGCCGGGGGCGGCA	0.751													C|||	2815	0.562101	0.5545	0.549	5008	,	,		6370	0.4157		0.6928	False		,,,				2504	0.5982				p.A44A		.											.	E2F5-415	0			c.C132G						.	C	,	2392,1558		800,792,383	4	5	5		132,132	0.9	0.1	8	dbSNP_52	5	5668,2428		2076,1516,456	no	coding-synonymous,coding-synonymous	E2F5	NM_001083588.1,NM_001951.3	,	2876,2308,839	GG,GC,CC		29.9901,39.443,33.0898	,	44/346,44/347	86089787	8060,3986	1975	4048	6023	SO:0001819	synonymous_variant	1875	exon1			GGGCGCCGGGGGC	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.132C>G	8.37:g.86089787C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001083588	0	0	0	0	0	E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	CCDS47885.1																																																																																			C|0.434;G|0.566		0.751	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		G	86089787	C	G	86089787	2	3	3	1	0	0	0	0	0	0	0	1	4884	639	23	2		2	E2F5	8	86089787	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	12239530	86089787	60274235	42	200											
ADCY8	114	hgsc.bcm.edu	37	chr8	132052342	132052342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctgacagctgcggcgCgtggtggttggggccgccgc	19	13	0	1	rs2228949	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr8:132052342C>T	ENST00000286355.5	-	1	2330	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A80T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	80			A -> T (in dbSNP:rs2228949).		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)			AGCTGCGGCGCGTGGTGGTTG	0.726										HNSCC(32;0.087)			C|||	90	0.0179712	0.0015	0.0187	5008	,	,		11522	0		0.0338	False		,,,				2504	0.0419				p.A80T		.											.	ADCY8-157	0			c.G238A						.	C	THR/ALA	20,3732		0,20,1856	3	3	3		238	4.6	1	8	dbSNP_98	3	227,7205		0,227,3489	no	missense	ADCY8	NM_001115.2	58	0,247,5345	TT,TC,CC		3.0544,0.533,2.2085	benign	80/1252	132052342	247,10937	1876	3716	5592	SO:0001583	missense	114	exon1			GCGGCGCGTGGTG	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.238G>A	8.37:g.132052342C>T	ENSP00000286355:p.Ala80Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	13	NM_001115	0	0	0	0	0		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	43	0.019688644688644688	4	0.008130081300813009	8	0.022099447513812154	4	0.006993006993006993	27	0.03562005277044855	C	18.88	3.716491	0.68844	0.00533	0.030544	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.65916	-0.18;-0.18	4.55	4.55	0.56014	.	0.116934	0.38605	N	0.001630	T	0.12817	0.0311	L	0.36672	1.1	0.29715	N	0.839078	B;B	0.32731	0.076;0.382	B;B	0.15052	0.012;0.012	T	0.09596	-1.0667	10	0.13470	T	0.59	.	6.3928	0.21595	0.0:0.7154:0.187:0.0976	rs2228949	80;80	E7EVL1;P40145	.;ADCY8_HUMAN	T	80	ENSP00000286355:A80T;ENSP00000367161:A80T	ENSP00000286355:A80T	A	-	1	0	ADCY8	132121524	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.772000	0.38552	2.383000	0.81215	0.462000	0.41574	GCG	C|0.979;T|0.021		0.726	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	132052342	C	T	132052342	3	4	3	1	0	0	0	0	1	0	0	0	300	768	27	1	3589	1	ADCY8	8	132052342	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	45962555	132052342	14311680	43	201											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	14	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	3	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	12949246	145001588	1362434	44	202											
DAB2IP	153090	hgsc.bcm.edu	37	chr9	124535156	124535156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctcagctggtggcCgggtggccggcccgggcaac	18	14	1	0	rs377593194		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000259371.2_Silent_p.A755A|DAB2IP_ENST00000309989.1_Silent_p.A659A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756																																					p.A755A		.											.	DAB2IP-91	0			c.C2265T						.	C	,	1,4183		0,1,2091	7	9	9		2265,1977	-5.6	1	9		9	2,8182		0,2,4090	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6181	TT,TC,CC		0.0244,0.0239,0.0243	,	755/1133,659/1066	124535156	3,12365	2092	4092	6184	SO:0001819	synonymous_variant	153090	exon12			GGTGGCCGGGTGG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2349C>T	9.37:g.124535156C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_032552	0	0	0	0	0	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																				.		0.756	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124535156	C	T	124535156	2	4	3	1	0	0	0	0	0	0	0	1	4228	639	23	1		1	DAB2IP	9	124535156	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		124535156	16678275	45	203											
COL5A1	1289	broad.mit.edu	37	chr9	137727048	137727048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgccctggtggacggctgtGctgtgagtatcccgcgccgc	16	14	0	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr9:137727048G>T	ENST00000371817.3	+	65	5782	c.5368G>T	c.(5368-5370)Gct>Tct	p.A1790S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1790	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACGGCTGTGCTGTGAGTAT	0.657																																					p.A1790S		.											.	COL5A1-524	0			c.G5368T						.						61	53	56					9																	137727048		2203	4300	6503	SO:0001583	missense	1289	exon65			GGCTGTGCTGTGA	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.5368G>T	9.37:g.137727048G>T	ENSP00000360882:p.Ala1790Ser	Somatic	61	1		WXS	Illumina GAIIx	Phase_I	87	5	NM_000093	0	0	0	0	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.303498|2.303498	0.40795|0.40795	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	T|D	0.72282|0.88046	-0.64|-2.33	5.03|5.03	5.03|5.03	0.67393|0.67393	Fibrillar collagen, C-terminal (4);|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.81569|0.81569	0.4850|0.4850	N|N	0.04090|0.04090	-0.28|-0.28	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.44044|.	0.825|.	B|.	0.38562|.	0.276|.	D|D	0.85763|0.85763	0.1350|0.1350	10|7	0.17832|0.87932	T|D	0.49|0	.|.	18.3643|18.3643	0.90385|0.90385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1790|.	P20908|.	CO5A1_HUMAN|.	S|F	1790;327|209	ENSP00000360882:A1790S|ENSP00000360885:C209F	ENSP00000347458:A327S|ENSP00000360885:C209F	A|C	+|+	1|2	0|0	COL5A1|COL5A1	136866869|136866869	1.000000|1.000000	0.71417|0.71417	0.736000|0.736000	0.30914|0.30914	0.218000|0.218000	0.24690|0.24690	7.644000|7.644000	0.83416|0.83416	2.340000|2.340000	0.79590|0.79590	0.561000|0.561000	0.74099|0.74099	GCT|TGC	.		0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137727048	G	T	137727048	3	4	3	1	0	0	0	0	1	0	0	0	3703	1319	46	3	5626	3	COL5A1	9	137727048	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	13191892	137727048	3486383	46	204											
ANKRD30A	91074	ucsc.edu	37	chr10	37438605	37438605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaagccatctgccttcAaggtatttagttttattatt	6	7	2	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr10:37438605A>G	ENST00000602533.1	+	10	1501	c.1402A>G	c.(1402-1404)Aag>Gag	p.K468E	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K468E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K468E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	524					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTGCCTTCAAGGTATTTAG	0.303																																					p.K468E		.											.	ANKRD30A-161	0			c.A1402G						.						161	137	144					10																	37438605		1814	4074	5888	SO:0001583	missense	91074	exon10			GCCTTCAAGGTAT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1402A>G	10.37:g.37438605A>G	ENSP00000473551:p.Lys468Glu	Somatic	139	2		WXS	Illumina GAIIx	Phase_I	121	15	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	8.353	0.831353	0.16820	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04119	3.7;3.7	1.28	1.28	0.21552	.	.	.	.	.	T	0.08758	0.0217	L	0.29908	0.895	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.32025	-0.9922	9	0.46703	T	0.11	.	4.7631	0.13118	1.0:0.0:0.0:0.0	.	524	Q9BXX3	AN30A_HUMAN	E	468	ENSP00000354432:K468E;ENSP00000363792:K468E	ENSP00000354432:K468E	K	+	1	0	ANKRD30A	37478611	0.041000	0.20044	0.140000	0.22221	0.050000	0.14768	-0.156000	0.10100	0.835000	0.34877	0.336000	0.21669	AAG	.		0.303	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37438605	A	G	37438605	3	3	3	1	0	0	0	0	1	0	0	0	658	131	5	4	1440	4	ANKRD30A	10	37438605	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10		37438605	98096142	47	205											
FAM21C	253725	bcgsc.ca	37	chr10	46224381	46224381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcaagaaacaagtggaCggactaatccgggaaaccaa	10	8	1	1	rs17157971	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr10:46224381C>T	ENST00000336378.4	+	3	316	c.198C>T	c.(196-198)gaC>gaT	p.D66D	FAM21C_ENST00000359860.4_Intron|FAM21C_ENST00000374362.2_Silent_p.D66D|FAM21C_ENST00000540872.1_Silent_p.D66D|FAM21C_ENST00000537517.1_Silent_p.D66D|FAM21FP_ENST00000608637.1_RNA	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	66					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AACAAGTGGACGGACTAATCC	0.383													C|||	249	0.0497204	0.0772	0.0288	5008	,	,		16599	0.0546		0.0507	False		,,,				2504	0.0215				p.D66D		.											.	FAM21C-91	0			c.C198T						.	C	,,	288,3388		8,272,1558	160	154	156		198,198,198	-5.6	0.9	10	dbSNP_123	156	255,7913		4,247,3833	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM21C	NM_001169106.1,NM_001169107.1,NM_015262.2	,,	12,519,5391	TT,TC,CC		3.1219,7.8346,4.5846	,,	66/1280,66/1246,66/1321	46224381	543,11301	1838	4084	5922	SO:0001819	synonymous_variant	253725	exon3			AGTGGACGGACTA		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.198C>T	10.37:g.46224381C>T		Somatic	203	2		WXS	Illumina GAIIx	Phase_I	152	8	NM_015262	0	0	1	1	0	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37																																																																																				C|0.945;T|0.055		0.383	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	46224381	C	T	46224381	2	4	3	1	0	0	0	0	0	0	0	1	5561	535	19	1		1	FAM21C	10	46224381	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	8785776	46224381	89310366	48	206											
SPOCK2	9806	hgsc.bcm.edu	37	chr10	73848075	73848075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagccgcccgcagccCggggcgcgcatcgtggtctg	15	17	1	0	rs2306324	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr10:73848075C>T	ENST00000373109.2	-	1	456	c.12G>A	c.(10-12)ccG>ccA	p.P4P	SPOCK2_ENST00000317376.4_Silent_p.P4P|SPOCK2_ENST00000536168.1_Silent_p.P4P|SPOCK2_ENST00000412663.1_Silent_p.P4P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	4					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCCGCAGCCCGGGGCGCGCA	0.697													C|||	722	0.144169	0.2201	0.1585	5008	,	,		11692	0.1438		0.0437	False		,,,				2504	0.135				p.P4P		.											.	SPOCK2-90	0			c.G12A						.	C	,	759,3439		58,643,1398	6	8	7		12,12	0.9	0.9	10	dbSNP_100	7	414,7646		9,396,3625	yes	coding-synonymous,coding-synonymous	SPOCK2	NM_001134434.1,NM_014767.2	,	67,1039,5023	TT,TC,CC		5.1365,18.08,9.5693	,	4/78,4/425	73848075	1173,11085	2099	4030	6129	SO:0001819	synonymous_variant	9806	exon2			GCAGCCCGGGGCG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.12G>A	10.37:g.73848075C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001134434	0	0	3	3	0	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			C|0.870;T|0.130		0.697	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			T	73848075	C	T	73848075	2	4	3	1	0	0	0	0	0	0	0	1	15127	639	23	1		1	SPOCK2	10	73848075	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	27623694	73848075	61686672	49	207											
PGAM1	5223	broad.mit.edu	37	chr10	99186071	99186071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgccgccatggccGcctacaaactggtgctgatc	10	18	0	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr10:99186071G>T	ENST00000334828.5	+	1	155	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S	AL355490.1_ENST00000439965.2_5'Flank	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	3					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CGCCATGGCCGCCTACAAACT	0.706																																					p.A3S		.											.	PGAM1-226	0			c.G7T						.						12	15	14					10																	99186071		2003	4038	6041	SO:0001583	missense	5223	exon1			ATGGCCGCCTACA	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"Phosphoglycerate mutase A, nonmuscle form"	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.7G>T	10.37:g.99186071G>T	ENSP00000359991:p.Ala3Ser	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	218	6	NM_002629	0	1	283	285	1	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967652	0.18659	.	.	ENSG00000171314	ENST00000334828	T	0.80566	-1.39	5.03	4.12	0.48240	.	0.000000	0.64402	U	0.000001	T	0.66446	0.2790	N	0.16201	0.385	0.40796	D	0.983292	B;B	0.26147	0.143;0.026	B;B	0.29176	0.099;0.064	T	0.62900	-0.6756	10	0.30078	T	0.28	-39.4485	12.2036	0.54340	0.084:0.0:0.916:0.0	.	3;3	Q0D2Q6;P18669	.;PGAM1_HUMAN	S	3	ENSP00000359991:A3S	ENSP00000359991:A3S	A	+	1	0	PGAM1	99176061	0.969000	0.33509	0.369000	0.25952	0.024000	0.10985	3.213000	0.51153	1.338000	0.45544	0.484000	0.47621	GCC	.		0.706	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		T	99186071	G	T	99186071	3	4	3	1	0	0	0	0	1	0	0	0	11812	1087	38	2	9	2	PGAM1	10	99186071	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	25337996	99186071	36348676	50	208											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	91	6	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	3	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10		1253980	133752536	51	209											
DUSP8	1850	hgsc.bcm.edu	37	chr11	1578741	1578741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaggctgcgctcgtaCtccagcagctggcccaggaa	12	14	1	0	rs182736278	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr11:1578741C>T	ENST00000397374.3	-	7	1012	c.885G>A	c.(883-885)gaG>gaA	p.E295E	DUSP8_ENST00000331588.4_Silent_p.E295E|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	295	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	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)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TGCGCTCGTACTCCAGCAGCT	0.741													C|||	31	0.0061901	0.0197	0.0058	5008	,	,		11633	0		0.001	False		,,,				2504	0				p.E295E		.											.	DUSP8-226	0			c.G885A						.	C		33,3915		0,33,1941	6	7	6		885	3.3	1	11		6	0,7794		0,0,3897	no	coding-synonymous	DUSP8	NM_004420.2		0,33,5838	TT,TC,CC		0.0,0.8359,0.281		295/626	1578741	33,11709	1974	3897	5871	SO:0001819	synonymous_variant	1850	exon7			CTCGTACTCCAGC		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.885G>A	11.37:g.1578741C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_004420	0	0	0	1	1	Q86SS8	Silent	SNP	ENST00000397374.3	37	CCDS7724.1																																																																																			C|0.990;T|0.010		0.741	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		T	1578741	C	T	1578741	2	4	3	1	0	0	0	0	0	0	0	1	4845	564	20	3		3	DUSP8	11	1578741	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	324761	1578741	133427775	52	210											
PTPRJ	5795	broad.mit.edu	37	chr11	48149412	48149412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggaaagtcagcgataacGagtcgtcatctaactatacc	8	10	4	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr11:48149412G>A	ENST00000418331.2	+	7	1526	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	PTPRJ_ENST00000440289.2_Missense_Mutation_p.E392K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	392	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			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						CAGCGATAACGAGTCGTCATC	0.512																																					p.E392K		.											.	PTPRJ-541	0			c.G1174A						.						166	139	148					11																	48149412		2201	4298	6499	SO:0001583	missense	5795	exon7			GATAACGAGTCGT	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.1174G>A	11.37:g.48149412G>A	ENSP00000400010:p.Glu392Lys	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	99	4	NM_001098503	0	0	1	1	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394644	0.42512	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.56444	0.46;0.46	4.65	1.69	0.24217	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55081	0.1898	L	0.60455	1.87	0.09310	N	1	P;D	0.58268	0.95;0.982	B;P	0.55965	0.443;0.788	T	0.40720	-0.9548	9	0.26408	T	0.33	.	4.7793	0.13194	0.1924:0.1777:0.6299:0.0	.	392;392	Q12913;Q6P4H4	PTPRJ_HUMAN;.	K	392	ENSP00000400010:E392K;ENSP00000409733:E392K	ENSP00000278456:E392K	E	+	1	0	PTPRJ	48105988	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.228000	0.32588	0.409000	0.25649	0.655000	0.94253	GAG	.		0.512	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48149412	G	A	48149412	3	1	3	1	0	0	0	0	1	0	0	0	12849	1059	37	1	1200	1	PTPRJ	11	48149412	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	46570671	48149412	86857104	53	211											
TPCN2	219931	bcgsc.ca	37	chr11	68837957	68837957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcatagtcttcactGtgataggtgagtgcaggtaa	10	7	5	2	rs543282845		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr11:68837957G>T	ENST00000294309.3	+	9	990	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	TPCN2_ENST00000542467.1_Missense_Mutation_p.V297L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	297					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|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)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTCTTCACTGTGATAGGTGA	0.473													g|||	1	0.000199681	8e-04	0	5008	,	,		17406	0		0	False		,,,				2504	0				p.V297L		.											.	TPCN2-90	0			c.G889T						.						190	170	177					11																	68837957		2200	4294	6494	SO:0001583	missense	219931	exon9			TTCACTGTGATAG	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.889G>T	11.37:g.68837957G>T	ENSP00000294309:p.Val297Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	16	3	NM_139075	0	0	0	0	0	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	4.473	0.087653	0.08583	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98437	-4.93;-4.93	4.33	0.0113	0.14086	Ion transport (1);	0.430507	0.21402	N	0.075138	D	0.91002	0.7170	N	0.05351	-0.065	0.22666	N	0.998879	B;B;B	0.13145	0.007;0.001;0.003	B;B;B	0.12156	0.007;0.005;0.004	T	0.82904	-0.0226	10	0.07482	T	0.82	-5.6371	6.3741	0.21497	0.0967:0.1775:0.6238:0.102	.	297;297;212	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	L	227;297;212;297	ENSP00000294309:V297L;ENSP00000445551:V297L	ENSP00000294309:V297L	V	+	1	0	TPCN2	68594533	0.919000	0.31177	0.899000	0.35326	0.630000	0.37929	1.386000	0.34419	-0.230000	0.09840	-0.516000	0.04426	GTG	.		0.473	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		T	68837957	G	T	68837957	3	4	3	1	0	0	0	0	1	0	0	0	16444	1377	48	3	923	3	TPCN2	11	68837957	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	20688545	68837957	66168559	54	212											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	100095508	100095508	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagggtacagaccacagcaGacagtgtgtcagatgaggca	14	9	1	4			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr11:100095508G>T	ENST00000524871.1	+	16	2259	c.1969G>T	c.(1969-1971)Gac>Tac	p.D657Y	CNTN5_ENST00000527185.1_Missense_Mutation_p.D657Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.D657Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.D583Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.D657Y|CNTN5_ENST00000524560.1_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	657	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.D657N(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)		GACCACAGCAGACAGTGTGTC	0.433																																					p.D657Y		.											.	CNTN5-366	2	Substitution - Missense(2)	endometrium(2)	c.G1969T						.						127	125	126					11																	100095508		2007	4180	6187	SO:0001583	missense	53942	exon15			ACAGCAGACAGTG	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.1969G>T	11.37:g.100095508G>T	ENSP00000435637:p.Asp657Tyr	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	131	119	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087748	0.76642	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.87682	2.9	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	0.87002	0.2117	10	0.87932	D	0	.	18.6296	0.91355	0.0:0.0:1.0:0.0	.	657;583;657	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Y	657;657;657;583;657	ENSP00000433575:D657Y;ENSP00000436185:D657Y;ENSP00000435637:D657Y;ENSP00000393229:D583Y;ENSP00000279463:D657Y	ENSP00000279463:D657Y	D	+	1	0	CNTN5	99600718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.655000	0.90218	0.650000	0.86243	GAC	.		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	100095508	G	T	100095508	3	4	3	1	0	0	0	0	1	0	0	0	3651	942	33	3	2023	3	CNTN5	11	100095508	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	31257551	100095508	34911008	55	213											
KIAA0748	9840	bcgsc.ca	37	chr12	55368245	55368245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcctgcagggcggcGgcagcctcctcttctaggac	14	14	2	0	rs4758993	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr12:55368245G>A	ENST00000449076.1	-	2	234	c.102C>T	c.(100-102)gcC>gcT	p.A34A	TESPA1_ENST00000316577.8_Silent_p.A34A|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_5'Flank|TESPA1_ENST00000524622.1_5'Flank|TESPA1_ENST00000531122.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	34					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GCAGGGCGGCGGCAGCCTCCT	0.602													G|||	2058	0.410942	0.2451	0.2262	5008	,	,		16775	0.7044		0.2336	False		,,,				2504	0.6462				p.A34A		.											.	.	0			c.C102T						.	G	,	943,2959		121,701,1129	19	22	21		102,102	-9.7	0.2	12	dbSNP_111	21	1651,6645		168,1315,2665	no	coding-synonymous,coding-synonymous	KIAA0748	NM_001098815.1,NM_001136030.1	,	289,2016,3794	AA,AG,GG		19.9012,24.1671,21.2658	,	34/522,34/522	55368245	2594,9604	1951	4148	6099	SO:0001819	synonymous_variant	9840	exon2			GGCGGCGGCAGCC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.102C>T	12.37:g.55368245G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	168	6	NM_001098815	0	0	0	0	0	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																			G|0.625;A|0.375		0.602	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		A	55368245	G	A	55368245	2	1	3	1	0	0	0	0	0	0	0	1	8217	1103	39	1		1	KIAA0748	12	55368245	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		55368245	78483650	56	214											
PPFIA2	8499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	81777846	81777846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcatttcttctgtttTaatgagatcctttcttgctg	8	7	4	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr12:81777846T>C	ENST00000549396.1	-	9	1100	c.940A>G	c.(940-942)Aaa>Gaa	p.K314E	RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K240E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K296E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K314E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K296E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K161E|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K314E|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K314E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K215E	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	314	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTCTGTTTTAATGAGATCC	0.428																																					p.K314E		.											.	PPFIA2-231	0			c.A940G						.						152	145	147					12																	81777846		1912	4124	6036	SO:0001583	missense	8499	exon8			CTGTTTTAATGAG	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.940A>G	12.37:g.81777846T>C	ENSP00000450337:p.Lys314Glu	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	282	83	NM_001220476	0	0	0	0	0	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	32	5.170947	0.94807	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.70596	0.3242	M	0.88570	2.965	0.80722	D	1	D;P	0.67145	0.996;0.956	D;D	0.76071	0.987;0.931	T	0.76798	-0.2826	10	0.72032	D	0.01	-36.5517	16.2997	0.82804	0.0:0.0:0.0:1.0	.	214;314	B7Z4H8;O75334	.;LIPA2_HUMAN	E	314;296;240;325;296;314;215;314	ENSP00000450337:K314E;ENSP00000450298:K296E;ENSP00000385093:K240E;ENSP00000327416:K296E;ENSP00000449338:K314E;ENSP00000388373:K215E;ENSP00000447868:K314E	ENSP00000327416:K296E	K	-	1	0	PPFIA2	80301977	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.182000	0.71995	2.250000	0.74265	0.528000	0.53228	AAA	.		0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			C	81777846	T	C	81777846	3	2	3	1	0	0	0	0	1	0	0	0	12349	1763	61	4	2929	4	PPFIA2	12	81777846	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	26409601	81777846	52074049	57	215											
ABCB9	23457	broad.mit.edu	37	chr12	123414623	123414623	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actacgcggcccttgtccagCaccacaatgaggtgcgcgtg	12	14	0	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr12:123414623C>A	ENST00000542678.1	-	12	4974	c.2136G>T	c.(2134-2136)gtG>gtT	p.V712V	ABCB9_ENST00000442833.2_Intron|ABCB9_ENST00000344275.7_Intron|ABCB9_ENST00000392439.3_Silent_p.V712V|ABCB9_ENST00000280560.8_Silent_p.V712V|ABCB9_ENST00000442028.2_Silent_p.V715V|ABCB9_ENST00000540285.1_Silent_p.V649V|ABCB9_ENST00000346530.5_Silent_p.V669V			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	712	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCTTGTCCAGCACCACAATGA	0.662																																					p.V712V	Ovarian(49;786 1333 9175 38236)	.											.	ABCB9-90	0			c.G2136T						.																																			SO:0001819	synonymous_variant	23457	exon12			GTCCAGCACCACA	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.2136G>T	12.37:g.123414623C>A		Somatic	57	1		WXS	Illumina GAIIx	Phase_I	219	9	NM_019625	0	0	13	15	2	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	ENST00000542678.1	37	CCDS9241.1																																																																																			.		0.662	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		A	123414623	C	A	123414623	2	1	3	1	0	0	0	0	0	0	0	1	48	697	25	3		3	ABCB9	12	123414623	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	41636777	123414623	10437272	58	216											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124239085	124239085	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttagcctggctcacgcacGtaagttcctgcttagacctg	10	13	1	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr12:124239085G>A	ENST00000330342.3	+	18	2541		c.e18+1		ATP6V0A2_ENST00000544833.1_Splice_Site	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTCACGCACGTAAGTTCCTG	0.507																																					.		.											.	ATP6V0A2-92	0			c.2293+1G>A						.						77	69	71					12																	124239085		2203	4300	6503	SO:0001630	splice_region_variant	23545	exon18			ACGCACGTAAGTT	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2293+1G>A	12.37:g.124239085G>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	96	4	NM_012463	0	0	0	0	0	A8K026|Q6NUM0	Splice_Site	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776968	0.70107	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4622	0.94921	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0A2	122805038	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	9.797000	0.99108	2.662000	0.90505	0.557000	0.71058	.	.		0.507	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	Intron	A	124239085	G	A	124239085	5	1	3	1	0	0	0	0	0	0	1	0	1170	1159	40	1	2364	1	ATP6V0A2	12	124239085	Splice_Site	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	824462	124239085	9612810	59	217											
SPERT	220082	hgsc.bcm.edu	37	chr13	46288017	46288017	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaaagcaagcccgccccctCaccccacgaggagccctgca	10	19	1	0	rs79707842	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr13:46288017C>A	ENST00000310521.1	+	3	937	c.857C>A	c.(856-858)tCa>tAa	p.S286*	SPERT_ENST00000378966.3_Nonsense_Mutation_p.S250*	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	286						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCGCCCCCTCACCCCACGAG	0.721													c|||	310	0.061901	0.0068	0.0865	5008	,	,		14469	0.0982		0.0875	False		,,,				2504	0.0552				p.S286X		.											.	SPERT-91	0			c.C857A						.		stop/SER	36,3866		0,36,1915	5	8	7		857	3.2	0	13	dbSNP_131	7	419,7219		3,413,3403	no	stop-gained	SPERT	NM_152719.1		3,449,5318	AA,AC,CC		5.4857,0.9226,3.9428		286/449	46288017	455,11085	1951	3819	5770	SO:0001587	stop_gained	220082	exon3			CCCCCTCACCCCA	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.857C>A	13.37:g.46288017C>A	ENSP00000309189:p.Ser286*	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_152719	0	0	0	0	0	A8K8I5|Q8NHV2	Nonsense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	161	0.07371794871794872	6	0.012195121951219513	23	0.06353591160220995	68	0.11888111888111888	64	0.08443271767810026	C	21.5	4.165935	0.78339	0.009226	0.054857	ENSG00000174015	ENST00000310521;ENST00000378966	.	.	.	5.05	3.24	0.37175	.	0.731762	0.12237	N	0.486921	.	.	.	.	.	.	0.09310	P	0.9999999999958166	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5116	0.27577	0.1627:0.751:0.0:0.0863	.	.	.	.	X	286;250	.	ENSP00000309189:S286X	S	+	2	0	SPERT	45186018	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.355000	0.20163	1.350000	0.45770	0.655000	0.94253	TCA	C|0.925;A|0.075		0.721	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		A	46288017	C	A	46288017	4	1	3	1	0	0	0	0	0	1	0	0	15086	838	29	3	867	3	SPERT	13	46288017	Nonsense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		46288017	68881861	60	218											
RTL1	388015	broad.mit.edu	37	chr14	101349017	101349017	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagggtctggggagagcgcAaacggctggtagctcttcat	15	8	3	1	rs6575805	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr14:101349017A>G	ENST00000534062.1	-	1	2167	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	703					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGAGAGCGCAAACGGCTGGT	0.512													G|||	3234	0.645767	0.8495	0.5576	5008	,	,		22279	0.4504		0.7734	False		,,,				2504	0.5031				p.F703F		.											.	RTL1-46	0			c.T2109C						.	G		1167,217		495,177,20	104	104	104		2109	-5.7	0	14	dbSNP_116	104	2429,753		915,599,77	no	coding-synonymous	RTL1	NM_001134888.2		1410,776,97	GG,GA,AA		23.6644,15.6792,21.244		703/1359	101349017	3596,970	692	1591	2283	SO:0001819	synonymous_variant	388015	exon1			GAGCGCAAACGGC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2109T>C	14.37:g.101349017A>G		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	216	5	NM_001134888	0	0	0	0	0	E9PKS8	Silent	SNP	ENST00000534062.1	37	CCDS53910.1																																																																																			A|0.311;G|0.689		0.512	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		G	101349017	A	G	101349017	2	3	3	1	0	0	0	0	0	0	0	1	13769	127	5	4		4	RTL1	14	101349017	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10		101349017	6000523	61	219											
SPATA5L1	79029	hgsc.bcm.edu	37	chr15	45695445	45695445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccccggcgctgcagggttCccggcctggggagaccgagg	18	15	0	1	rs143453038	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr15:45695445C>G	ENST00000305560.6	+	1	917	c.818C>G	c.(817-819)tCc>tGc	p.S273C	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.S273C|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	273						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCAGGGTTCCCGGCCTGGG	0.761													C|||	50	0.00998403	0.0023	0.0202	5008	,	,		12129	0		0.0298	False		,,,				2504	0.0031				p.S273C		.											.	SPATA5L1-94	0			c.C818G						.	C	CYS/SER	17,3375		0,17,1679	3	4	4		818	4.9	0.3	15	dbSNP_134	4	149,7059		1,147,3456	no	missense	SPATA5L1	NM_024063.2	112	1,164,5135	GG,GC,CC		2.0671,0.5012,1.566	possibly-damaging	273/754	45695445	166,10434	1696	3604	5300	SO:0001583	missense	79029	exon1			AGGGTTCCCGGCC	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.818C>G	15.37:g.45695445C>G	ENSP00000305494:p.Ser273Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	29	27	NM_024063	0	0	0	1	1	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	40	0.018315018315018316	8	0.016260162601626018	9	0.024861878453038673	0	0.0	23	0.030343007915567283	C	20.5	3.999282	0.74818	0.005012	0.020671	ENSG00000171763	ENST00000305560	D	0.93426	-3.22	4.9	4.9	0.64082	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.367137	0.28560	N	0.014910	D	0.89111	0.6622	M	0.68728	2.09	0.20307	N	0.999919	D	0.56035	0.974	P	0.57057	0.812	D	0.85330	0.1089	10	0.87932	D	0	-22.4119	16.8259	0.85931	0.0:1.0:0.0:0.0	.	273	Q9BVQ7	SPA5L_HUMAN	C	273	ENSP00000305494:S273C	ENSP00000305494:S273C	S	+	2	0	SPATA5L1	43482737	0.758000	0.28405	0.314000	0.25224	0.281000	0.26958	7.247000	0.78257	2.536000	0.85505	0.585000	0.79938	TCC	C|0.982;G|0.018		0.761	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		G	45695445	C	G	45695445	3	3	3	1	0	0	0	0	1	0	0	0	15059	855	30	3	820	3	SPATA5L1	15	45695445	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		45695445	56835947	62	220											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	3	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		1823444	88531309	63	221											
ZFP90	146198	broad.mit.edu	37	chr16	68597636	68597636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctatcagtgtagtctctgtGggaaagccttccagcgcagc	11	12	2	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr16:68597636G>T	ENST00000570495.1	+	5	1238	c.946G>T	c.(946-948)Ggg>Tgg	p.G316W	ZFP90_ENST00000398253.2_Missense_Mutation_p.G316W|ZFP90_ENST00000563169.2_Missense_Mutation_p.G316W			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	316					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TAGTCTCTGTGGGAAAGCCTT	0.488																																					p.G316W		.											.	ZFP90-91	0			c.G946T						.						71	79	76					16																	68597636		2161	4289	6450	SO:0001583	missense	146198	exon4			CTCTGTGGGAAAG	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.946G>T	16.37:g.68597636G>T	ENSP00000460547:p.Gly316Trp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	159	5	NM_133458	0	0	10	10	0	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709376	0.68615	.	.	ENSG00000184939	ENST00000398253	T	0.01516	4.81	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	M	0.85542	2.76	0.43172	D	0.994979	D	0.89917	1.0	D	0.97110	1.0	T	0.00007	-1.2504	9	0.72032	D	0.01	-12.0006	18.3732	0.90420	0.0:0.0:1.0:0.0	.	316	Q8TF47	ZFP90_HUMAN	W	316	ENSP00000381304:G316W	ENSP00000381304:G316W	G	+	1	0	ZFP90	67155137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.941000	0.99782	0.655000	0.94253	GGG	.		0.488	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		T	68597636	G	T	68597636	3	4	3	1	0	0	0	0	1	0	0	0	17702	1348	47	3	960	3	ZFP90	16	68597636	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	66774192	68597636	21757117	64	222											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	3	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5J3-01A-11D-A29I-10	20002061	88599697	1755056	65	223											
C17orf48	56985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10608472	10608472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagcttggagatatcatcGatggatataatgcacagtat	9	6	2	1	rs74947284		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr17:10608472G>A	ENST00000379774.4	+	2	320	c.229G>A	c.(229-231)Gat>Aat	p.D77N	ADPRM_ENST00000609540.1_Missense_Mutation_p.D77N	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	77							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										AGATATCATCGATGGATATAA	0.403													G|||	1	0.000199681	0	0	5008	,	,		20340	0		0.001	False		,,,				2504	0				p.D77N		.											.	.	0			c.G229A						.						147	138	141					17																	10608472		2203	4300	6503	SO:0001583	missense	56985	exon2			ATCATCGATGGAT	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.229G>A	17.37:g.10608472G>A	ENSP00000369099:p.Asp77Asn	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	127	113	NM_020233	0	0	1	6	5	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.3	4.401669	0.83120	.	.	ENSG00000170222	ENST00000379774	D	0.87809	-2.3	5.65	5.65	0.86999	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92551	0.6050	10	0.42905	T	0.14	-3.4882	19.5221	0.95189	0.0:0.0:1.0:0.0	.	77	Q3LIE5	ADPRM_HUMAN	N	77	ENSP00000369099:D77N	ENSP00000369099:D77N	D	+	1	0	C17orf48	10549197	1.000000	0.71417	0.986000	0.45419	0.456000	0.32438	8.739000	0.91574	2.941000	0.99782	0.655000	0.94253	GAT	G|0.999;A|0.001		0.403	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		A	10608472	G	A	10608472	3	1	3	1	0	0	0	0	1	0	0	0	1865	1058	37	1	231	1	C17orf48	17	10608472	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		10608472	70586738	66	224											
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305773	39305774	+	Missense_Mutation	DNP	TC	TC	GG													ggtggtcctgcagcaggtggTctggcagcagcaggggcggc					rs137947981|rs201152898		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr17:39305773_39305774TC>GG	ENST00000343246.4	-	1	280_281	c.246_247GA>CC	c.(244-249)caGAcc>caCCcc	p.82_83QT>HP		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagcaggtggtctggcagcagc	0.653																																					p.QT82HP		.											.	KRTAP4-5-90	1	Substitution - Missense(1)	lung(1)	c.G246C						.																																			SO:0001583	missense	85289	exon1			GGTGGTCTGGCAG	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.246_247delinsGG	17.37:g.39305773_39305774delinsGG	ENSP00000340546:p.Q82_T83delinsHP	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	40	17	NM_033188	0	0	0	0	0		Missense_Mutation	DNP	ENST00000343246.4	37	CCDS32650.1																																																																																			.		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GG	39305774	TC	GG	39305773	3	3	3	1	0	0	0	0	1	0	0	0	8582	1667	58	5	302	5	KRTAP4-5	17	39305773	Missense_Mutation	DNP	TC	TCGA-OR-A5J3-01A-11D-A29I-10	28697301	39305773	41889437	67	225	5	2									
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305775	39305775	+	Missense_Mutation	SNP	T	T	C													tggtcctgcagcaggtggtcTggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr17:39305775T>C	ENST00000343246.4	-	1	279	c.245A>G	c.(244-246)cAg>cGg	p.Q82R		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagca	0.657																																					p.Q82R		.											.	KRTAP4-5-90	0			c.A245G						.						14	21	18					17																	39305775		2102	4214	6316	SO:0001583	missense	85289	exon1			GTGGTCTGGCAGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245A>G	17.37:g.39305775T>C	ENSP00000340546:p.Gln82Arg	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	42	35	NM_033188	0	0	0	0	0		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	1.564	-0.535892	0.04082	.	.	ENSG00000198271	ENST00000343246	T	0.00581	6.42	2.44	-3.27	0.05048	.	.	.	.	.	T	0.00271	0.0008	N	0.04260	-0.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	9	0.11794	T	0.64	.	3.3098	0.07013	0.2034:0.3821:0.0:0.4145	.	87	Q9BYR2	KRA45_HUMAN	R	82	ENSP00000340546:Q82R	ENSP00000340546:Q82R	Q	-	2	0	KRTAP4-5	36559301	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-1.539000	0.02202	-0.998000	0.03446	-1.710000	0.00715	CAG	.		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			C	39305775	T	C	39305775	3	2	3	1	0	0	0	0	1	0	0	0	8582	1580	55	4	304	4	KRTAP4-5	17	39305775	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	2	39305775	41889435	68	226	5	2									
HELZ	9931	bcgsc.ca	37	chr17	65190106	65190106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacacaaagtatattcctcGctgcttgtgattcccctagg	7	11	0	1			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr17:65190106G>T	ENST00000358691.5	-	9	700	c.534C>A	c.(532-534)agC>agA	p.S178R	HELZ_ENST00000580168.1_Missense_Mutation_p.S178R|HELZ_ENST00000580662.1_Intron	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	178						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TATATTCCTCGCTGCTTGTGA	0.373																																					p.S178R		.											.	HELZ-92	0			c.C534A						.						59	56	57					17																	65190106		1844	4090	5934	SO:0001583	missense	9931	exon9			TTCCTCGCTGCTT	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.534C>A	17.37:g.65190106G>T	ENSP00000351524:p.Ser178Arg	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	82	4	NM_014877	0	0	0	0	0	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594883	0.28445	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.83591	-1.74;1.41	4.86	1.17	0.20885	Zinc finger, CCCH-type (2);	0.038277	0.85682	D	0.000000	T	0.75803	0.3899	L	0.57536	1.79	0.54753	D	0.999987	B;B	0.24651	0.108;0.108	B;B	0.20767	0.031;0.021	T	0.71276	-0.4641	10	0.87932	D	0	-12.4591	6.5811	0.22594	0.4944:0.0:0.5056:0.0	.	178;178	B7ZLW2;P42694	.;HELZ_HUMAN	R	178	ENSP00000351524:S178R;ENSP00000411144:S178R	ENSP00000351524:S178R	S	-	3	2	HELZ	62620568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	0.548000	0.28955	0.585000	0.79938	AGC	.		0.373	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		T	65190106	G	T	65190106	3	4	3	1	0	0	0	0	1	0	0	0	7076	1078	38	2	5394	2	HELZ	17	65190106	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	25884331	65190106	16005104	69	227											
PRKAR1A	5573	hgsc.bcm.edu;bcgsc.ca	37	chr17	66526554	66526554	+	Frame_Shift_Del	DEL	C	C	-													gacatcctcaaacgaaacatCcagcagtacaacagttttgt					rs62638722		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr17:66526554delC	ENST00000589228.1	+	11	1238	c.1110delC	c.(1108-1110)atcfs	p.I370fs	PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.I370fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	370					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AACGAAACATCCAGCAGTACA	0.502			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.I370fs	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	0			c.1110delC						.						212	166	182					17																	66526554		2203	4300	6503	SO:0001589	frameshift_variant	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	AAACATCCAGCAG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1110delC	17.37:g.66526554delC	ENSP00000464977:p.Ile370fs	Somatic	154	2		WXS	Illumina GAIIx	Phase_I	120	94	NM_212472	0	0	0	0	0	K7ER48|Q567S7	Frame_Shift_Del	DEL	ENST00000589228.1	37	CCDS11678.1																																																																																			.		0.502	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			-	66526554	C	-	66526554	7	5	3	1	0	1	0	1	0	0	0	0	12545	845	30	0	1148	0	PRKAR1A	17	66526554	Frame_Shift_Del	DEL	C	TCGA-OR-A5J3-01A-11D-A29I-10	1336448	66526554	14668656	70	228											
ARID3A	1820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	932572	932572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacggcactgttccccCgaaaggcccagccaccccag	9	20	0	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:932572C>G	ENST00000263620.3	+	3	850	c.523C>G	c.(523-525)Cga>Gga	p.R175G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	175						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGTTCCCCCGAAAGGCCCA	0.741																																					p.R175G	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.C523G						.						10	6	8					19																	932572		2041	4017	6058	SO:0001583	missense	1820	exon3			TTCCCCCGAAAGG	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.523C>G	19.37:g.932572C>G	ENSP00000263620:p.Arg175Gly	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	105	35	NM_005224	0	0	1	1	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506997	0.44558	.	.	ENSG00000116017	ENST00000263620	T	0.47528	0.84	3.79	3.79	0.43588	.	1023.970000	0.00166	N	0.000000	T	0.43656	0.1257	L	0.29908	0.895	0.29273	N	0.870547	B	0.06786	0.001	B	0.06405	0.002	T	0.28870	-1.0030	10	0.31617	T	0.26	-7.9419	14.3902	0.66973	0.0:1.0:0.0:0.0	.	175	Q99856	ARI3A_HUMAN	G	175	ENSP00000263620:R175G	ENSP00000263620:R175G	R	+	1	2	ARID3A	883572	0.975000	0.34042	0.971000	0.41717	0.619000	0.37552	2.593000	0.46180	1.944000	0.56390	0.443000	0.29094	CGA	.		0.741	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	932572	C	G	932572	3	3	3	1	0	0	0	0	1	0	0	0	916	644	23	2	529	2	ARID3A	19	932572	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		932572	58196411	71	229											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000586866.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	11	NM_019112	0	0	2	4	2	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	3	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	132472	1065044	58063939	72	230											
PCSK4	148223	hgsc.bcm.edu	37	chr19	1482150	1482150	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtggttgaagaaccGcggggggcagtaggccaggc	18	9	0	2			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:1482150G>A	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000591027.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.R626W|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														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)		TTGAAGAACCGCGGGGGGCAG	0.697																																					p.R626W		.											.	PCSK4-90	0			c.C1876T						.																																			SO:0001631	upstream_gene_variant	54760	exon15			AGAACCGCGGGGG	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482150G>A	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	7	NM_017573	0	0	0	4	4	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278546	0.40294	.	.	ENSG00000115257	ENST00000300954	T	0.63417	-0.04	3.7	-6.84	0.01687	Growth factor, receptor (1);	3.702840	0.02592	U	0.100082	T	0.43389	0.1245	L	0.29908	0.895	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.26503	-1.0101	10	0.52906	T	0.07	.	2.9284	0.05792	0.0936:0.2429:0.1747:0.4888	.	626	Q6UW60	PCSK4_HUMAN	W	626	ENSP00000300954:R626W	ENSP00000300954:R626W	R	-	1	2	PCSK4	1433150	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-1.845000	0.01677	-0.867000	0.04063	0.462000	0.41574	CGG	.		0.697	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		A	1482150	G	A	1482150	1	1	3	0	1	0	0	0	0	0	0	0	11641	1086	38	1		1	PCSK4	19	1482150	5'Flank	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	417106	1482150	57646833	73	231											
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4217956	4217956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcggggccgggcAgccagtctggagcaggaggt	20	10	1	0	rs6510794	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000262970.5_Silent_p.A1023A|ANKRD24_ENST00000318934.4_Silent_p.A933A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3	6	5		2799	0.3	1	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_133475	0	0	0	1	1	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4217956	A	G	4217956	2	3	3	1	0	0	0	0	0	0	0	1	653	175	7	4		4	ANKRD24	19	4217956	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	2735806	4217956	54911027	74	232											
PLIN5	440503	hgsc.bcm.edu	37	chr19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcgggcaggccccGcacgctggactccagagcct	16	17	0	1	rs1062223	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3	4	4		916	4.6	1	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001013706	0	0	0	0	0	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		A	4524016	G	A	4524016	3	1	3	1	0	0	0	0	1	0	0	0	12132	1086	38	1	479	1	PLIN5	19	4524016	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	306060	4524016	54604967	75	233											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_019107	0	0	2	4	2	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	3	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	146297	4670313	54458670	76	234											
HNRNPM	4670	hgsc.bcm.edu	37	chr19	8551112	8551112	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccatgggcccggccctGggcgctggcattgagcgcat	15	15	0	1	rs12977861	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:8551112G>T	ENST00000325495.4	+	14	1841	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	HNRNPM_ENST00000348943.3_Silent_p.L561L	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	600	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						GCCCGGCCCTGGGCGCTGGCA	0.697													G|||	195	0.0389377	0.0038	0.0317	5008	,	,		16020	0.0337		0.0616	False		,,,				2504	0.0736				p.L600L		.											.	HNRNPM-68	0			c.G1800T						.	G	,	58,4338		1,56,2141	27	31	30		1800,1683	0.3	1	19	dbSNP_121	30	520,8074		23,474,3800	no	coding-synonymous,coding-synonymous	HNRNPM	NM_005968.4,NM_031203.3	,	24,530,5941	TT,TG,GG		6.0507,1.3194,4.4496	,	600/731,561/692	8551112	578,12412	2198	4297	6495	SO:0001819	synonymous_variant	4670	exon14			GGCCCTGGGCGCT	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.1800G>T	19.37:g.8551112G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	10	NM_005968	0	0	37	75	38	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	CCDS12203.1																																																																																			G|0.960;T|0.040		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			T	8551112	G	T	8551112	2	4	3	1	0	0	0	0	0	0	0	1	7298	1335	47	3		3	HNRNPM	19	8551112	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	3880799	8551112	50577871	77	235											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	3	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	6582814	15133926	43995057	78	236											
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704002	29704002	+	Silent	SNP	T	T	C													aggacgggcgcgaacgggccTgagcgggatgctaccgacaa					rs11666764	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1	2	2					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704002	T	C	29704002	2	2	3	1	0	0	0	0	0	0	0	1	17070	1567	55	4		4	UQCRFS1	19	29704002	Silent	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	14570076	29704002	29424981	79	237	6	2									
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C													cgcgaacgggcctgagcgggAtgctaccgacaacatggcga					rs8100724	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1	2	2					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704010	A	C	29704010	3	2	3	1	0	0	0	0	1	0	0	0	17070	333	12	5	816	5	UQCRFS1	19	29704010	Missense_Mutation	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	8	29704010	29424973	80	238	6	2									
LRP3	4037	hgsc.bcm.edu	37	chr19	33698018	33698018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttcaccggccgcgggCgccccgaggccagatcccac	12	19	2	1	rs11539586	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:33698018C>T	ENST00000253193.7	+	7	2052	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	617					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGCCGCGGGCGCCCCGAGGC	0.751													c|||	306	0.0611022	0.0598	0.0303	5008	,	,		10346	0.0446		0.0348	False		,,,				2504	0.1288				p.A617V		.											.	LRP3-92	0			c.C1850T						.	T	VAL/ALA	150,3256		0,150,1553	2	3	3		1850	1.1	0.1	19	dbSNP_120	3	222,6744		4,214,3265	no	missense	LRP3	NM_002333.3	64	4,364,4818	TT,TC,CC		3.1869,4.404,3.5866	benign	617/771	33698018	372,10000	1703	3483	5186	SO:0001583	missense	4037	exon7			CGCGGGCGCCCCG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1850C>T	19.37:g.33698018C>T	ENSP00000253193:p.Ala617Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	22	14	NM_002333	0	1	12	42	29	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	71	0.03250915750915751	23	0.046747967479674794	8	0.022099447513812154	15	0.026223776223776224	25	0.032981530343007916	c	1.581	-0.531531	0.04112	0.04404	0.031869	ENSG00000130881	ENST00000253193	D	0.87256	-2.23	3.32	1.14	0.20703	.	0.411391	0.20707	N	0.087178	T	0.38268	0.1034	L	0.38175	1.15	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.38562	0.001;0.276	T	0.55952	-0.8059	10	0.27785	T	0.31	-5.3016	8.5568	0.33487	0.0:0.7835:0.0:0.2165	rs11539586	617;535	O75074;B7ZAJ9	LRP3_HUMAN;.	V	617	ENSP00000253193:A617V	ENSP00000253193:A617V	A	+	2	0	LRP3	38389858	0.435000	0.25577	0.147000	0.22382	0.046000	0.14306	1.013000	0.29937	0.098000	0.17522	-3.141000	0.00059	GCG	T|0.000;G|0.967		0.751	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33698018	C	T	33698018	3	4	3	1	0	0	0	0	1	0	0	0	8993	768	27	1	1876	1	LRP3	19	33698018	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	3994008	33698018	25430965	81	239											
BLOC1S3	388552	hgsc.bcm.edu	37	chr19	45682698	45682698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttcgggcccgacgcgCggccgccccacggggctgcg	17	18	0	0	rs182286598	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:45682698C>A	ENST00000433642.2	+	2	240	c.144C>A	c.(142-144)cgC>cgA	p.R48R	TRAPPC6A_ENST00000588062.1_5'Flank|TRAPPC6A_ENST00000585934.1_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000006275.4_5'Flank|BLOC1S3_ENST00000587722.1_Silent_p.R48R|TRAPPC6A_ENST00000592647.1_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	48					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)		GCCCGACGCGCGGCCGCCCCA	0.756									Hermansky-Pudlak syndrome				C|||	17	0.00339457	0	0.0043	5008	,	,		9991	0		0.0089	False		,,,				2504	0.0051				p.R48R		.											.	BLOC1S3-90	0			c.C144A						.	C		17,3849		0,17,1916	4	5	5		144	0.4	1	19		5	108,7598		1,106,3746	no	coding-synonymous	BLOC1S3	NM_212550.3		1,123,5662	AA,AC,CC		1.4015,0.4397,1.0802		48/203	45682698	125,11447	1933	3853	5786	SO:0001819	synonymous_variant	388552	exon2	Familial Cancer Database	HPS, HPS1-8	GACGCGCGGCCGC	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.144C>A	19.37:g.45682698C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	33	20	NM_212550	0	0	0	0	0	B2RXB8	Silent	SNP	ENST00000433642.2	37	CCDS12656.1																																																																																			C|0.995;A|0.005		0.756	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		A	45682698	C	A	45682698	2	1	3	1	0	0	0	0	0	0	0	1	1452	755	27	2		2	BLOC1S3	19	45682698	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	11984680	45682698	13446285	82	240											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	11	NM_000400	0	0	9	22	13	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	3	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	184561	45867259	13261724	83	241											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	3	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	1260065	47127324	12001659	84	242											
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_017607	0	0	1	3	2		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	3	1	0	0	0	0	0	0	0	1	12398	378	14	4		4	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-OR-A5J3-01A-11D-A29I-10	8501285	55628609	3500374	85	243											
IFNAR2	3455	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	34634996	34634996	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagctgggattacaagcGtgcatccctgtgccccagtg	12	12	0	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr21:34634996G>A	ENST00000342136.4	+	9	1166				IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000404220.3_Missense_Mutation_p.R324H|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R324H|IFNAR2_ENST00000342101.3_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|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)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	gattacaagcgtgcatccctg	0.423																																					p.R324H		.											.	IFNAR2-90	0			c.G971A						.						20	24	23					21																	34634996		1232	2415	3647	SO:0001627	intron_variant	3455	exon9			ACAAGCGTGCATC		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.841-102G>A	21.37:g.34634996G>A		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	27	13	NM_000874	0	0	1	2	1	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842784	0.32606	.	.	ENSG00000159110	ENST00000382264;ENST00000404220	T;T	0.38077	1.16;1.16	1.07	0.137	0.14787	.	.	.	.	.	T	0.14056	0.0340	N	0.10760	0.04	0.09310	N	1	B	0.31989	0.35	B	0.15870	0.014	T	0.15093	-1.0449	9	0.87932	D	0	.	3.382	0.07257	0.2949:0.0:0.7051:0.0	.	324	P48551-2	.	H	324	ENSP00000371699:R324H;ENSP00000384309:R324H	ENSP00000371699:R324H	R	+	2	0	IFNAR2	33556866	.	.	0.002000	0.10522	0.002000	0.02628	.	.	0.024000	0.15214	-0.251000	0.11542	CGT	.		0.423	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			A	34634996	G	A	34634996	1	1	3	0	1	0	0	0	0	0	0	0	7572	1145	40	1		1	IFNAR2	21	34634996	Intron	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		34634996	13494899	86	244											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggtgagccgcagcaatcGggggacggcagcctctcgcc	16	14	1	1	rs13049239	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	3	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10	1407588	36042584	12087311	87	245											
PI4KA	5297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	21088807	21088807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaatttctgctccaccGtcatgtgccaggcccctgcc	9	17	2	0	rs559723682		TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr22:21088807G>A	ENST00000572273.1	-	33	3832	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	PI4KA_ENST00000255882.6_Missense_Mutation_p.T1259M|PI4KA_ENST00000414196.3_Missense_Mutation_p.T11M			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1201					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)			CTGCTCCACCGTCATGTGCCA	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		17752	0		0	False		,,,				2504	0				p.T1259M	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.C3776T						.						98	103	101					22																	21088807		2203	4300	6503	SO:0001583	missense	5297	exon33			TCCACCGTCATGT	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.3602C>T	22.37:g.21088807G>A	ENSP00000458238:p.Thr1201Met	Somatic	269	0		WXS	Illumina GAIIx	Phase_I	191	10	NM_058004	0	0	10	10	0	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.948581	0.92593	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	D	0.83591	-1.74	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.92003	0.5612	10	0.87932	D	0	-18.5111	18.856	0.92252	0.0:0.0:1.0:0.0	.	1201	P42356	PI4KA_HUMAN	M	1201;11	ENSP00000402981:T11M	ENSP00000255882:T1201M	T	-	2	0	PI4KA	19418807	1.000000	0.71417	0.980000	0.43619	0.979000	0.70002	7.719000	0.84751	2.694000	0.91930	0.650000	0.86243	ACG	.		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21088807	G	A	21088807	3	1	3	1	0	0	0	0	1	0	0	0	11912	1145	40	1	2624	1	PI4KA	22	21088807	Missense_Mutation	SNP	G	TCGA-OR-A5J3-01A-11D-A29I-10		21088807	30215759	88	246											
TAB1	10454	broad.mit.edu	37	chr22	39826114	39826114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgctcccggcccgccCactcgctcccgcctggcgag	10	22	1	0			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chr22:39826114C>A	ENST00000216160.6	+	11	1464	c.1402C>A	c.(1402-1404)Cac>Aac	p.H468N	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	468					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCGGCCCGCCCACTCGCTCCC	0.647																																					p.H468N		.											.	TAB1-522	0			c.C1402A						.						92	81	84					22																	39826114		2203	4300	6503	SO:0001583	missense	10454	exon11			CCCGCCCACTCGC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1402C>A	22.37:g.39826114C>A	ENSP00000216160:p.His468Asn	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	70	3	NM_006116	0	0	8	8	0	Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376110	0.61735	.	.	ENSG00000100324	ENST00000216160	T	0.42513	0.97	5.38	5.38	0.77491	.	0.385065	0.29321	N	0.012485	T	0.31040	0.0784	N	0.22421	0.69	0.80722	D	1	B;B	0.29716	0.118;0.255	B;B	0.26614	0.021;0.071	T	0.07693	-1.0759	10	0.16896	T	0.51	.	19.1358	0.93428	0.0:1.0:0.0:0.0	.	468;612	Q15750;Q59FT7	TAB1_HUMAN;.	N	468	ENSP00000216160:H468N	ENSP00000216160:H468N	H	+	1	0	TAB1	38156060	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	7.103000	0.77014	2.523000	0.85059	0.650000	0.86243	CAC	.		0.647	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		A	39826114	C	A	39826114	3	1	3	1	0	0	0	0	1	0	0	0	15542	594	21	3	1444	3	TAB1	22	39826114	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	18737307	39826114	11478452	89	247											
GPR174	84636	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	78426661	78426661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatatgaaagaaacaaaaCgagctgtgatatttatgata	8	3	0	4			TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chrX:78426661C>T	ENST00000276077.1	+	1	193	c.157C>T	c.(157-159)Cga>Tga	p.R53*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AGAAACAAAACGAGCTGTGAT	0.378										HNSCC(63;0.18)																											p.R53X		.											.	GPR174-130	0			c.C157T						.						102	80	87					X																	78426661		2202	4300	6502	SO:0001587	stop_gained	84636	exon1			ACAAAACGAGCTG	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.157C>T	X.37:g.78426661C>T	ENSP00000276077:p.Arg53*	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	104	86	NM_032553	0	0	0	0	0	Q2M3F7	Nonsense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529152	0.64860	.	.	ENSG00000147138	ENST00000276077	.	.	.	5.2	1.15	0.20763	.	0.063131	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	14.1615	0.65450	0.649:0.351:0.0:0.0	.	.	.	.	X	53	.	ENSP00000276077:R53X	R	+	1	2	GPR174	78313317	0.937000	0.31787	0.932000	0.37286	0.615000	0.37417	0.091000	0.15046	-0.212000	0.10109	0.538000	0.68166	CGA	.		0.378	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		T	78426661	C	T	78426661	4	4	3	1	0	0	0	0	0	1	0	0	6698	528	19	1	159	1	GPR174	23	78426661	Nonsense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10		78426661	76843899	90	248											
MAGEC1	9947	bcgsc.ca	37	chrX	140994407	140994407	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttgagggttttccccagtCtcctctccagattcctatga	7	12	2	3	rs62611965	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chrX:140994407C>G	ENST00000285879.4	+	4	1503	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	406										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)					TTTCCCCAGTCTCCTCTCCAG	0.478										HNSCC(15;0.026)			-|||	283	0.0749669	0.0393	0.0533	3775	,	,		13424	0.0337		0.0577	False		,,,				2504	0.1043				p.S406C		.											.	MAGEC1-133	0			c.C1217G						.	C	CYS/SER	188,3647		10,136,32,1486,539	118	130	126		1217		0	X	dbSNP_129	126	633,6088		21,429,162,1978,1703	no	missense	MAGEC1	NM_005462.4	112	31,565,194,3464,2242	GG,GC,G,CC,C		9.4182,4.9022,7.7776	probably-damaging	406/1143	140994407	821,9735	2203	4293	6496	SO:0001583	missense	9947	exon4			CCCAGTCTCCTCT	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.1217C>G	X.37:g.140994407C>G	ENSP00000285879:p.Ser406Cys	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	93	5	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	107	0.0644966847498493	19	0.03991596638655462	11	0.03197674418604651	10	0.017793594306049824	33	0.045205479452054796	c	4.098	0.016180	0.07959	0.049022	0.094182	ENSG00000155495	ENST00000285879	T	0.02606	4.23	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.32593	P	0.52694	D	0.62365	0.991	P	0.52710	0.707	T	0.51568	-0.8689	7	0.72032	D	0.01	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	rs62611965	406	O60732	MAGC1_HUMAN	C	406	ENSP00000285879:S406C	ENSP00000285879:S406C	S	+	2	0	MAGEC1	140822073	0.007000	0.16637	0.041000	0.18516	0.041000	0.13682	-0.137000	0.10389	0.148000	0.19059	0.150000	0.16122	TCT	C|0.933;G|0.067		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140994407	C	G	140994407	3	3	3	1	0	0	0	0	1	0	0	0	9218	913	32	3	1223	3	MAGEC1	23	140994407	Missense_Mutation	SNP	C	TCGA-OR-A5J3-01A-11D-A29I-10	62567746	140994407	14276153	91	249			1	1		2	2	13	N	T_C	3.449917e-05
MAGEC1	9947	bcgsc.ca	37	chrX	140994419	140994419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtctcctctccagaTtcctatgacctcctccttct	3	19	3	2	rs138268726	byFrequency	TCGA-OR-A5J3-01A-11D-A29I-10	TCGA-OR-A5J3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	7691e5bf-7a03-4e6a-9873-74f2c8390a41	e93eca23-3968-4f0d-83c5-54657b7a2dea	g.chrX:140994419T>C	ENST00000285879.4	+	4	1515	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	410										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)					CCTCTCCAGATTCCTATGACC	0.483										HNSCC(15;0.026)			-|||	284	0.0752318	0.0401	0.0533	3775	,	,		13350	0.0337		0.0577	False		,,,				2504	0.1043				p.I410T		.											.	MAGEC1-133	0			c.T1229C						.	T	THR/ILE	190,3643		12,134,32,1486,537	118	129	126		1229		0	X	dbSNP_134	126	634,6086		24,425,161,1979,1703	no	missense	MAGEC1	NM_005462.4	89	36,559,193,3465,2240	CC,CT,C,TT,T		9.4345,4.957,7.8082	possibly-damaging	410/1143	140994419	824,9729	2201	4292	6493	SO:0001583	missense	9947	exon4			TCCAGATTCCTAT	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.1229T>C	X.37:g.140994419T>C	ENSP00000285879:p.Ile410Thr	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	107	0.0644966847498493	19	0.03991596638655462	11	0.03197674418604651	10	0.017793594306049824	33	0.045205479452054796	t	0.313	-0.966724	0.02232	0.04957	0.094345	ENSG00000155495	ENST00000285879	T	0.03801	3.8	.	.	.	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.80722	P	0.0	P	0.38110	0.618	B	0.25759	0.063	T	0.47302	-0.9128	7	0.66056	D	0.02	.	4.5609	0.12160	0.0:5.0E-4:0.0:0.9995	.	410	O60732	MAGC1_HUMAN	T	410	ENSP00000285879:I410T	ENSP00000285879:I410T	I	+	2	0	MAGEC1	140822085	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	0.010000	0.13242	0.127000	0.18452	0.126000	0.15802	ATT	T|0.932;C|0.068		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140994419	T	C	140994419	3	2	3	1	0	0	0	0	1	0	0	0	9218	1493	52	4	1235	4	MAGEC1	23	140994419	Missense_Mutation	SNP	T	TCGA-OR-A5J3-01A-11D-A29I-10	12	140994419	14276141	92	250			1	1		2	2	13	N	T_C	3.449917e-05
CLCNKA	1187	bcgsc.ca	37	chr1	16357147	16357147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgccatacctgccaCggattctgggccgcaacatc	10	14	1	1	rs12140223	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:16357147C>T	ENST00000331433.4	+	15	1619	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	CLCNKA_ENST00000375692.1_Missense_Mutation_p.R534W|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R491W|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R534W			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	534			R -> W (in dbSNP:rs12140223).		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATACCTGCCACGGATTCTGGG	0.607													C|||	268	0.0535144	0.0802	0.0447	5008	,	,		20348	0.006		0.0775	False		,,,				2504	0.0481				p.R534W		.											.	CLCNKA-91	0			c.C1600T						.	C	TRP/ARG,TRP/ARG	378,4026	186.7+/-213.5	10,358,1834	42	37	39		1600,1600	-2.6	0.2	1	dbSNP_120	39	805,7791	182.3+/-230.8	35,735,3528	no	missense,missense	CLCNKA	NM_001042704.1,NM_004070.3	101,101	45,1093,5362	TT,TC,CC		9.3648,8.5831,9.1	benign,benign	534/687,534/688	16357147	1183,11817	2202	4298	6500	SO:0001583	missense	1187	exon15			CTGCCACGGATTC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1600C>T	1.37:g.16357147C>T	ENSP00000332771:p.Arg534Trp	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	163	6	NM_004070	0	0	0	0	0	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	116	0.05311355311355311	38	0.07723577235772358	18	0.049723756906077346	4	0.006993006993006993	56	0.07387862796833773	C	4.728	0.135402	0.09032	0.085831	0.093648	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	3.89	-2.57	0.06248	Chloride channel, core (2);	0.563319	0.19723	N	0.107547	T	0.11580	0.0282	N	0.03948	-0.315	0.09310	N	1	B;B;B;B	0.18741	0.03;0.001;0.001;0.001	B;B;B;B	0.19666	0.026;0.001;0.001;0.001	T	0.53500	-0.8430	10	0.38643	T	0.18	.	5.0883	0.14694	0.3097:0.4793:0.0:0.211	rs12140223	270;491;534;534	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	W	534;534;491;534	ENSP00000364844:R534W;ENSP00000410353:R534W;ENSP00000414445:R491W;ENSP00000332771:R534W	ENSP00000332771:R534W	R	+	1	2	CLCNKA	16229734	0.000000	0.05858	0.250000	0.24296	0.109000	0.19521	-1.349000	0.02627	-0.379000	0.07906	0.313000	0.20887	CGG	.		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			T	16357147	C	T	16357147	3	4	4	1	0	0	0	0	1	0	0	0	3476	527	19	1	1654	1	CLCNKA	1	16357147	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		16357147	232893474	1	251											
PINK1	65018	hgsc.bcm.edu	37	chr1	20960230	20960230	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtcgggctcgggctCcctaaccgtctccgcttctt	12	16	2	0	rs45540544|rs45630563|rs45530340	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:20960230C>T	ENST00000321556.4	+	1	283	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	63					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCGGGCTCCCTAACCGTC	0.791													C|||	644	0.128594	0.053	0.1571	5008	,	,		6081	0.127		0.1938	False		,,,				2504	0.1452				p.L63L	Esophageal Squamous(145;853 1803 8146 34412 35011)	.											.	PINK1-380	0			c.C189T						.	C		165,3267		4,157,1555	3	4	3		189	0.4	0.9	1	dbSNP_127	3	1114,5976		93,928,2524	no	coding-synonymous	PINK1	NM_032409.2		97,1085,4079	TT,TC,CC		15.7123,4.8077,12.1555		63/582	20960230	1279,9243	1716	3545	5261	SO:0001819	synonymous_variant	65018	exon1			CGGGCTCCCTAAC	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.189C>T	1.37:g.20960230C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_032409	0	0	0	0	0	Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	CCDS211.1																																																																																			C|0.868;T|0.132		0.791	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		T	20960230	C	T	20960230	2	4	4	1	0	0	0	0	0	0	0	1	11971	842	30	3		3	PINK1	1	20960230	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	4603083	20960230	228290391	2	252											
AKR1A1	10327	broad.mit.edu	37	chr1	46032652	46032652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacctccagctggagTatctggacctgtacctgatg	12	11	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:46032652T>G	ENST00000372070.3	+	5	1063	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	AKR1A1_ENST00000471651.1_Missense_Mutation_p.Y106D|AKR1A1_ENST00000351829.4_Missense_Mutation_p.Y106D	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	106					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	CCAGCTGGAGTATCTGGACCT	0.567																																					p.Y106D		.											.	AKR1A1-226	0			c.T316G						.						121	103	109					1																	46032652		2203	4300	6503	SO:0001583	missense	10327	exon5			CTGGAGTATCTGG	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.316T>G	1.37:g.46032652T>G	ENSP00000361140:p.Tyr106Asp	Somatic	104	2		WXS	Illumina GAIIx	Phase_I	78	3	NM_006066	0	0	0	0	0	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	CCDS523.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796481	0.90453	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.39997	1.05;1.05;1.05	6.01	6.01	0.97437	NADP-dependent oxidoreductase domain (3);	0.109676	0.64402	D	0.000004	T	0.77103	0.4081	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85204	0.1017	10	0.87932	D	0	.	16.5769	0.84704	0.0:0.0:0.0:1.0	.	106	P14550	AK1A1_HUMAN	D	106	ENSP00000361140:Y106D;ENSP00000398414:Y106D;ENSP00000312606:Y106D	ENSP00000312606:Y106D	Y	+	1	0	AKR1A1	45805239	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.965000	0.87945	2.317000	0.78254	0.524000	0.50904	TAT	.		0.567	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		G	46032652	T	G	46032652	3	3	4	1	0	0	0	0	1	0	0	0	465	1638	57	5	326	5	AKR1A1	1	46032652	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	25072422	46032652	203217969	3	253											
SLC44A5	204962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	75684227	75684227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcgtgggatgtcatcagGttttttcatggcccagtaat	10	7	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:75684227G>A	ENST00000370855.5	-	17	1590	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P493S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P363S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	493					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGTCATCAGGTTTTTTCATG	0.418																																					p.P493S		.											.	SLC44A5-95	0			c.C1477T						.						175	162	167					1																	75684227		2203	4300	6503	SO:0001583	missense	204962	exon17			CATCAGGTTTTTT	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1477C>T	1.37:g.75684227G>A	ENSP00000359892:p.Pro493Ser	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	171	50	NM_001130058	0	0	0	0	0	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239557	0.58995	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.21361	2.01;2.01;2.01	5.6	4.69	0.59074	.	0.201274	0.53938	D	0.000057	T	0.25044	0.0608	L	0.60012	1.86	0.80722	D	1	D;P;D;D;D	0.60160	0.975;0.933;0.975;0.987;0.969	P;P;P;D;P	0.62955	0.893;0.838;0.893;0.909;0.868	T	0.03576	-1.1023	10	0.18276	T	0.48	-13.3811	14.7469	0.69494	0.0699:0.0:0.9301:0.0	.	487;532;493;493;532	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	493;532;493;363;486	ENSP00000359896:P493S;ENSP00000359892:P493S;ENSP00000443090:P363S	ENSP00000359892:P493S	P	-	1	0	SLC44A5	75456815	1.000000	0.71417	0.993000	0.49108	0.064000	0.16182	7.979000	0.88103	1.511000	0.48818	0.655000	0.94253	CCT	.		0.418	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		A	75684227	G	A	75684227	3	1	4	1	0	0	0	0	1	0	0	0	14684	1261	44	3	825	3	SLC44A5	1	75684227	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	29651575	75684227	173566394	4	254											
DPYD	1806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	97564178	97564178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccagataaggtccaaaaCttggcagtttctaaaaggaa	9	7	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:97564178C>T	ENST00000370192.3	-	21	2733	c.2633G>A	c.(2632-2634)aGt>aAt	p.S878N	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	878					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGGTCCAAAACTTGGCAGTTT	0.328																																					p.S878N		.											.	DPYD-278	0			c.G2633A						.						86	84	85					1																	97564178		2203	4300	6503	SO:0001583	missense	1806	exon21			CCAAAACTTGGCA	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2633G>A	1.37:g.97564178C>T	ENSP00000359211:p.Ser878Asn	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	64	31	NM_000110	0	0	0	0	0	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763404	0.31228	.	.	ENSG00000188641	ENST00000370192	D	0.90069	-2.61	5.66	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	L	0.48935	1.535	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73811	-0.3865	10	0.27082	T	0.32	-12.1033	13.0916	0.59169	0.0:0.9257:0.0:0.0743	.	878	Q12882	DPYD_HUMAN	N	878	ENSP00000359211:S878N	ENSP00000359211:S878N	S	-	2	0	DPYD	97336766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.113000	0.31184	1.534000	0.49203	0.591000	0.81541	AGT	.		0.328	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		T	97564178	C	T	97564178	3	4	4	1	0	0	0	0	1	0	0	0	4759	565	20	3	456	3	DPYD	1	97564178	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	21879951	97564178	151686443	5	255											
KCND3	3752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	112329612	112329612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgattctggtggtaaatcCggctaaagttggaaacaatc	10	7	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:112329612C>T	ENST00000315987.2	-	3	1702	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	KCND3_ENST00000369697.1_Missense_Mutation_p.R408Q|KCND3_ENST00000302127.4_Missense_Mutation_p.R408Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	408				R -> G (in Ref. 2; AAF01044/AAF01045). {ECO:0000305}.	cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R408L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTGGTAAATCCGGCTAAAGTT	0.552																																					p.R408Q		.											.	KCND3-155	1	Substitution - Missense(1)	NS(1)	c.G1223A						.						134	122	126					1																	112329612		2203	4300	6503	SO:0001583	missense	3752	exon3			TAAATCCGGCTAA	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1223G>A	1.37:g.112329612C>T	ENSP00000319591:p.Arg408Gln	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	203	44	NM_004980	0	0	0	0	0	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640958	0.96693	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97811	-4.55;-4.55;-4.55	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.73380	0.98;0.701	D	0.99719	1.1009	10	0.72032	D	0.01	.	17.8944	0.88883	0.0:1.0:0.0:0.0	.	408;408	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	408	ENSP00000358711:R408Q;ENSP00000319591:R408Q;ENSP00000306923:R408Q	ENSP00000306923:R408Q	R	-	2	0	KCND3	112131135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.398000	0.81561	0.561000	0.74099	CGG	.		0.552	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		T	112329612	C	T	112329612	3	4	4	1	0	0	0	0	1	0	0	0	8047	652	23	1	768	1	KCND3	1	112329612	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	14765434	112329612	136921009	6	256											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158641930	158641930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcactgctcatactgacgAtgacgctcgtcccacagttc	8	14	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:158641930A>G	ENST00000368147.4	-	11	1587	c.1407T>C	c.(1405-1407)caT>caC	p.H469H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	469			H -> P (in EL2; Barcelona). {ECO:0000269|PubMed:8364215}.|Missing (in EL2; Alexandria).		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)					CATACTGACGATGACGCTCGT	0.443																																					p.H469H		.											.	SPTA1-142	0			c.T1407C						.						112	109	110					1																	158641930		1965	4161	6126	SO:0001819	synonymous_variant	6708	exon11			CTGACGATGACGC	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.1407T>C	1.37:g.158641930A>G		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	78	25	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			.		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158641930	A	G	158641930	2	3	4	1	0	0	0	0	0	0	0	1	15163	330	12	4		4	SPTA1	1	158641930	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	46312318	158641930	90608691	7	257											
C1orf226	400793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	162353216	162353216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagagaagagagaggcAaagttctgcccaatggagag	15	5	1	4			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:162353216A>G	ENST00000458626.2	+	2	734	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E	C1orf226_ENST00000426197.2_Missense_Mutation_p.K231E	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	188										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						AGAGAGAGGCAAAGTTCTGCC	0.567																																					p.K231E		.											.	C1orf226-1	0			c.A691G						.						26	30	28					1																	162353216		2027	4197	6224	SO:0001583	missense	400793	exon3			AGAGGCAAAGTTC	AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.562A>G	1.37:g.162353216A>G	ENSP00000437071:p.Lys188Glu	Somatic	293	0		WXS	Illumina GAIIx	Phase_I	245	99	NM_001135240	0	0	0	0	0	B4DF31	Missense_Mutation	SNP	ENST00000458626.2	37	CCDS53422.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.826202	0.00589	.	.	ENSG00000239887	ENST00000426197;ENST00000458626	.	.	.	5.73	0.142	0.14816	.	.	.	.	.	T	0.03871	0.0109	N	0.02539	-0.55	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42716	-0.9435	7	0.02654	T	1	0.1173	7.5995	0.28067	0.1498:0.3818:0.4685:0.0	.	231;188	A1L170-2;A1L170	.;CA226_HUMAN	E	231;188	.	ENSP00000413150:K231E	K	+	1	0	C1orf226	160619840	0.909000	0.30893	0.000000	0.03702	0.002000	0.02628	2.458000	0.45014	0.043000	0.15746	-0.146000	0.13790	AAA	.		0.567	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375		G	162353216	A	G	162353216	3	3	4	1	0	0	0	0	1	0	0	0	2039	131	5	4	701	4	C1orf226	1	162353216	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	3711286	162353216	86897405	8	258											
GPR161	23432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	168059902	168059902	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggtgtggggacaggccCaggtctgaaagacaaaattg	16	6	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:168059902C>G	ENST00000367838.1	-	6	1417	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	GPR161_ENST00000367836.1_Silent_p.L236L|GPR161_ENST00000361697.2_Silent_p.L368L|GPR161_ENST00000271357.5_Silent_p.L368L|GPR161_ENST00000537209.1_Silent_p.L388L|GPR161_ENST00000539777.1_Silent_p.L290L|GPR161_ENST00000367835.1_Silent_p.L368L|GPR161_ENST00000546300.1_Silent_p.L254L	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	368					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGGACAGGCCCAGGTCTGAAA	0.607																																					p.L388L		.											.	GPR161-90	0			c.G1164C						.						37	38	38					1																	168059902		2203	4300	6503	SO:0001819	synonymous_variant	23432	exon5			CAGGCCCAGGTCT	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.1104G>C	1.37:g.168059902C>G		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	69	28	NM_001267609	0	0	0	0	0	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	CCDS1268.1																																																																																			.		0.607	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		G	168059902	C	G	168059902	2	3	4	1	0	0	0	0	0	0	0	1	6691	581	21	3		3	GPR161	1	168059902	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5706686	168059902	81190719	9	259											
CDC73	79577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	193111054	193111054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggctaagaaaagatctaCtatcaagactgatctagatg	8	6	3	5	rs587778168		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:193111054C>A	ENST00000367435.3	+	7	771	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	196					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						AAAAGATCTACTATCAAGACT	0.368																																					p.T196N		.											.	CDC73-1009	0			c.C587A						.						71	64	66					1																	193111054		2203	4300	6503	SO:0001583	missense	79577	exon7			GATCTACTATCAA	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.587C>A	1.37:g.193111054C>A	ENSP00000356405:p.Thr196Asn	Somatic	337	0		WXS	Illumina GAIIx	Phase_I	213	80	NM_024529	0	0	0	0	0	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784611	0.90282	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85955	-2.05	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	L	0.58302	1.8	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.85239	0.1037	10	0.23302	T	0.38	-17.4699	20.5568	0.99304	0.0:1.0:0.0:0.0	.	196	Q6P1J9	CDC73_HUMAN	N	196	ENSP00000356405:T196N	ENSP00000356405:T196N	T	+	2	0	CDC73	191377677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.861000	0.98227	0.655000	0.94253	ACT	.		0.368	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		A	193111054	C	A	193111054	3	1	4	1	0	0	0	0	1	0	0	0	3092	565	20	3	613	3	CDC73	1	193111054	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	25051152	193111054	56139567	10	260											
ASPM	259266	bcgsc.ca	37	chr1	197112533	197112533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggccattaacatttacGgaattaaaggaagtttcagt	8	6	1	0	rs6677082	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:197112533G>A	ENST00000367409.4	-	3	1105	c.849C>T	c.(847-849)tcC>tcT	p.S283S	ASPM_ENST00000294732.7_Silent_p.S283S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	283					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						TAACATTTACGGAATTAAAGG	0.333													.|||	3784	0.755591	0.295	0.8746	5008	,	,		18038	0.9831		0.9095	False		,,,				2504	0.9008				p.S283S		.											.	ASPM-615	0			c.C849T						.	G	,	1706,2700	502.4+/-365.2	345,1016,842	82	80	81		849,849	-2.4	0	1	dbSNP_116	81	7797,801	777.7+/-407.7	3536,725,38	no	coding-synonymous,coding-synonymous	ASPM	NM_001206846.1,NM_018136.4	,	3881,1741,880	AA,AG,GG		9.3161,38.7199,26.9225	,	283/1893,283/3478	197112533	9503,3501	2203	4299	6502	SO:0001819	synonymous_variant	259266	exon3			ATTTACGGAATTA	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.849C>T	1.37:g.197112533G>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	125	5	NM_001206846	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			G|0.240;A|0.760		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197112533	G	A	197112533	2	1	4	1	0	0	0	0	0	0	0	1	1057	1103	39	1		1	ASPM	1	197112533	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	4001479	197112533	52138088	11	261											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	216062269	216062269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggagttctcaagtaTagacggccatgtagataaat	9	7	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr1:216062269T>C	ENST00000307340.3	-	41	8108	c.7722A>G	c.(7720-7722)ctA>ctG	p.L2574L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.L2574L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2574	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCAAGTATAGACGGCCAT	0.408										HNSCC(13;0.011)																											p.L2574L		.											.	USH2A-115	0			c.A7722G						.						144	141	142					1																	216062269		2203	4300	6503	SO:0001819	synonymous_variant	7399	exon41			CAAGTATAGACGG	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.7722A>G	1.37:g.216062269T>C		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	62	26	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			.		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216062269	T	C	216062269	2	2	4	1	0	0	0	0	0	0	0	1	17085	1393	49	4		4	USH2A	1	216062269	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	18949736	216062269	33188352	12	262											
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24086377	24086377	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattcattagctaatgctctGgcaaccaaggttttacctgt	7	10	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:24086377G>C	ENST00000238789.5	-	12	1696	c.1353C>G	c.(1351-1353)gcC>gcG	p.A451A		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	451						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)					CTAATGCTCTGGCAACCAAGG	0.393																																					p.A451A		.											.	ATAD2B-68	0			c.C1353G						.						32	30	31					2																	24086377		1835	4085	5920	SO:0001819	synonymous_variant	54454	exon12			TGCTCTGGCAACC	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.1353C>G	2.37:g.24086377G>C		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	99	49	NM_001242338	0	0	0	0	0	B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003717	0.19121	.	.	ENSG00000119778	ENST00000366438	.	.	.	5.35	4.46	0.54185	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51474	-0.8701	4	.	.	.	.	4.7375	0.12995	0.2073:0.0:0.625:0.1677	.	.	.	.	R	73	.	.	P	-	2	0	ATAD2B	23939881	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.246000	0.32803	1.369000	0.46134	0.563000	0.77884	CCA	.		0.393	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	24086377	G	C	24086377	2	2	4	1	0	0	0	0	0	0	0	1	1073	1335	47	3		3	ATAD2B	2	24086377	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		24086377	219112996	13	263											
ALK	238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	29445209	29445209	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctctctgtggctttaCctgatgatcagggcttccat	11	10	3	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:29445209C>T	ENST00000389048.3	-	22	4422		c.e22+1		ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase						activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGTGGCTTTACCTGATGATCA	0.547			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												.		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK-3833	0			c.3515+1G>A						.						85	93	90					2																	29445209		2203	4300	6503	SO:0001630	splice_region_variant	238	exon23	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GCTTTACCTGATG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3515+1G>A	2.37:g.29445209C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	48	15	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Splice_Site	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415475	0.83449	.	.	ENSG00000171094	ENST00000389048;ENST00000453137	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALK	29298713	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.810000	0.86072	2.532000	0.85374	0.555000	0.69702	.	.		0.547	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Intron	T	29445209	C	T	29445209	5	4	4	1	0	0	0	0	0	0	1	0	525	521	18	3	1378	3	ALK	2	29445209	Splice_Site	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5358832	29445209	213754164	14	264											
POLR1A	25885	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	86315734	86315734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcctgtgcaccatggCtggaaacgtgatagtcaact	11	10	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:86315734C>T	ENST00000263857.6	-	6	1063	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A229T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	229					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCACCATGGCTGGAAACGTG	0.557																																					p.A229T		.											.	POLR1A-93	0			c.G685A						.						126	119	121					2																	86315734		2041	4190	6231	SO:0001583	missense	25885	exon6			CCATGGCTGGAAA	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.685G>A	2.37:g.86315734C>T	ENSP00000263857:p.Ala229Thr	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	125	37	NM_015425	0	0	0	0	0	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761154	0.49468	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.22336	1.96;1.96	6.17	3.39	0.38822	RNA polymerase Rpb1, domain 1 (1);	0.476807	0.24962	N	0.034213	T	0.15392	0.0371	L	0.38531	1.155	0.09310	N	1	B;B	0.25206	0.12;0.001	B;B	0.33196	0.159;0.006	T	0.28618	-1.0038	10	0.23302	T	0.38	-14.0917	4.2497	0.10689	0.2776:0.5052:0.0:0.2172	.	229;229	B9ZVN9;O95602	.;RPA1_HUMAN	T	229	ENSP00000263857:A229T;ENSP00000386300:A229T	ENSP00000263857:A229T	A	-	1	0	POLR1A	86169245	.	.	0.821000	0.32701	0.946000	0.59487	.	.	0.464000	0.27142	-0.140000	0.14226	GCC	.		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		T	86315734	C	T	86315734	3	4	4	1	0	0	0	0	1	0	0	0	12248	797	28	3	4593	3	POLR1A	2	86315734	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	56870525	86315734	156883639	15	265											
GPAT2	150763	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	96697819	96697819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggcaacagcgacccaCaaaggggcgatacttcccca	11	14	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:96697819C>G	ENST00000434632.1	-	4	598	c.139G>C	c.(139-141)Gtg>Ctg	p.V47L	GPAT2_ENST00000453542.1_Missense_Mutation_p.V47L|GPAT2_ENST00000359548.4_Missense_Mutation_p.V47L|GPAT2_ENST00000377137.3_Missense_Mutation_p.V47L|GPAT2_ENST00000488515.1_5'Flank			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	47					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGCGACCCACAAAGGGGCGA	0.607																																					p.V47L		.											.	GPAT2-90	0			c.G139C						.						47	61	57					2																	96697819		1798	3956	5754	SO:0001583	missense	150763	exon3			GACCCACAAAGGG	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.139G>C	2.37:g.96697819C>G	ENSP00000389395:p.Val47Leu	Somatic	505	1		WXS	Illumina GAIIx	Phase_I	692	133	NM_207328	0	0	0	0	0	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664453	0.47572	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137;ENST00000439254	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.32	3.42	0.39159	.	0.140682	0.47852	D	0.000206	T	0.36276	0.0961	M	0.69358	2.11	0.25123	N	0.990622	B;P;B	0.34724	0.043;0.465;0.208	B;B;B	0.29716	0.031;0.106;0.106	T	0.38607	-0.9653	10	0.62326	D	0.03	-7.5468	7.5108	0.27573	0.0:0.8786:0.0:0.1214	.	47;47;47	E9PE95;Q6NUI2-3;Q6NUI2	.;.;GPAT2_HUMAN	L	47	ENSP00000352547:V47L;ENSP00000389395:V47L;ENSP00000393770:V47L;ENSP00000366341:V47L;ENSP00000401334:V47L	ENSP00000352547:V47L	V	-	1	0	GPAT2	96061546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.578000	0.36525	1.154000	0.42482	0.546000	0.68486	GTG	.		0.607	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		G	96697819	C	G	96697819	3	3	4	1	0	0	0	0	1	0	0	0	6615	478	17	3	2328	3	GPAT2	2	96697819	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	10382085	96697819	146501554	16	266											
AFF3	3899	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	100210195	100210195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcttctcgcaggtcacggagGagcgcagctccttgcggtgg	16	12	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:100210195G>C	ENST00000409236.2	-	13	2040	c.1928C>G	c.(1927-1929)tCc>tGc	p.S643C	AFF3_ENST00000317233.4_Missense_Mutation_p.S643C|AFF3_ENST00000356421.2_Missense_Mutation_p.S668C|AFF3_ENST00000409579.1_Missense_Mutation_p.S668C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	643					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						GGTCACGGAGGAGCGCAGCTC	0.652																																					p.S668C		.											.	AFF3-230	0			c.C2003G						.						47	51	50					2																	100210195		2203	4300	6503	SO:0001583	missense	3899	exon14			ACGGAGGAGCGCA	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.1928C>G	2.37:g.100210195G>C	ENSP00000387207:p.Ser643Cys	Somatic	60	1		WXS	Illumina GAIIx	Phase_I	92	18	NM_001025108	0	0	0	0	0	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823753	0.32237	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.87	3.99	0.46301	.	0.266584	0.26680	N	0.023047	T	0.59293	0.2183	L	0.55743	1.74	0.09310	N	1	B;B;B	0.16166	0.016;0.002;0.0	B;B;B	0.17433	0.018;0.003;0.003	T	0.56396	-0.7986	10	0.66056	D	0.02	.	8.4379	0.32797	0.0832:0.1538:0.7629:0.0	.	796;643;668	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	C	643;668;668;643;643;796;668	ENSP00000317421:S643C;ENSP00000348793:S668C;ENSP00000386834:S668C;ENSP00000387207:S643C	ENSP00000317421:S643C	S	-	2	0	AFF3	99576627	.	.	0.394000	0.26270	0.927000	0.56198	.	.	1.196000	0.43129	0.561000	0.74099	TCC	.		0.652	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		C	100210195	G	C	100210195	3	2	4	1	0	0	0	0	1	0	0	0	358	1174	41	3	1796	3	AFF3	2	100210195	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3512376	100210195	142989178	17	267											
IL18R1	8809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	103006523	103006523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttttctagcagacatGgctgatatcccaggccacgt	8	12	2	2	rs149204147		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:103006523G>T	ENST00000409599.1	+	10	1313	c.957G>T	c.(955-957)atG>atT	p.M319I	IL18R1_ENST00000233957.1_Missense_Mutation_p.M319I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	319					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCAGACATGGCTGATATCC	0.408																																					p.M319I		.											.	IL18R1-93	0			c.G957T						.						154	132	140					2																	103006523		2203	4300	6503	SO:0001583	missense	8809	exon8			AGACATGGCTGAT	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.957G>T	2.37:g.103006523G>T	ENSP00000387211:p.Met319Ile	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	113	34	NM_003855	0	0	0	0	0	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	9.602	1.128940	0.21041	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01414	4.92;4.92;4.92	5.78	0.829	0.18847	.	1.813580	0.02739	N	0.116068	T	0.01353	0.0044	L	0.31752	0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49551	-0.8928	10	0.20519	T	0.43	.	1.2668	0.02013	0.4294:0.1047:0.2564:0.2095	.	318;319	B7ZKV7;Q13478	.;IL18R_HUMAN	I	319	ENSP00000386663:M319I;ENSP00000387211:M319I;ENSP00000233957:M319I	ENSP00000233957:M319I	M	+	3	0	IL18R1	102372955	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	0.007000	0.13174	-0.076000	0.12775	0.655000	0.94253	ATG	G|1.000;A|0.000		0.408	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		T	103006523	G	T	103006523	3	4	4	1	0	0	0	0	1	0	0	0	7674	1348	47	3	987	3	IL18R1	2	103006523	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2796328	103006523	140192850	18	268											
FBLN7	129804	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	112944994	112944994	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcctcagacgctggaggtgGacgtcgacatgtcggaatac	15	10	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:112944994G>C	ENST00000331203.2	+	8	1502	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	FBLN7_ENST00000409450.3_Missense_Mutation_p.D365H|FBLN7_ENST00000409903.1_Missense_Mutation_p.W326C|FBLN7_ENST00000409667.3_Missense_Mutation_p.D277H	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	411					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGGAGGTGGACGTCGACAT	0.587																																					p.D411H		.											.	FBLN7-69	0			c.G1231C						.						117	109	112					2																	112944994		2203	4300	6503	SO:0001583	missense	129804	exon8			GAGGTGGACGTCG		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1231G>C	2.37:g.112944994G>C	ENSP00000331411:p.Asp411His	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	88	30	NM_153214	0	0	0	0	0	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.119626|5.119626	0.94385|0.94385	.|.	.|.	ENSG00000144152|ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559|ENST00000409903	T;T;T;T|T	0.44881|0.79845	0.91;0.91;0.91;0.91|-1.31	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.048364|.	0.85682|.	D|.	0.000000|.	D|D	0.83275|0.83275	0.5219|0.5219	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	D;D;D|D	0.71674|0.69078	0.99;0.997;0.998|0.997	P;D;P|P	0.65987|0.52710	0.875;0.94;0.868|0.707	T|T	0.82812|0.82812	-0.0272|-0.0272	10|9	0.87932|0.38643	D|T	0|0.18	-27.2086|-27.2086	18.645|18.645	0.91407|0.91407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277;365;411|326	Q53RD9-4;Q53RD9-2;Q53RD9|B8ZZC1	.;.;FBLN7_HUMAN|.	H|C	411;277;365;233|326	ENSP00000331411:D411H;ENSP00000386822:D277H;ENSP00000387000:D365H;ENSP00000272559:D233H|ENSP00000386295:W326C	ENSP00000272559:D233H|ENSP00000386295:W326C	D|W	+|+	1|3	0|0	FBLN7|FBLN7	112661465|112661465	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.991000|0.991000	0.79684|0.79684	7.529000|7.529000	0.81952|0.81952	2.396000|2.396000	0.81511|0.81511	0.561000|0.561000	0.74099|0.74099	GAC|TGG	.		0.587	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		C	112944994	G	C	112944994	3	2	4	1	0	0	0	0	1	0	0	0	5723	1174	41	3	1261	3	FBLN7	2	112944994	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	9938471	112944994	130254379	19	269											
CLASP1	23332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	122205879	122205879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacttccagtaggacTtcttttggcagacagcggac	12	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:122205879T>A	ENST00000263710.4	-	18	2103	c.1714A>T	c.(1714-1716)Agt>Tgt	p.S572C	CLASP1_ENST00000455322.2_Missense_Mutation_p.S572C|CLASP1_ENST00000409078.3_Missense_Mutation_p.S572C|CLASP1_ENST00000545861.1_Missense_Mutation_p.S340C|CLASP1_ENST00000397587.3_Missense_Mutation_p.S572C|CLASP1_ENST00000541377.1_Missense_Mutation_p.S572C|CLASP1_ENST00000541859.1_Missense_Mutation_p.S341C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	572	Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAGTAGGACTTCTTTTGGCA	0.443																																					p.S572C		.											.	CLASP1-91	0			c.A1714T						.						100	103	102					2																	122205879		1940	4130	6070	SO:0001583	missense	23332	exon18			TAGGACTTCTTTT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1714A>T	2.37:g.122205879T>A	ENSP00000263710:p.Ser572Cys	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	43	17	NM_001207051	0	0	0	0	0	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	T	29.1	4.974317	0.92919	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.52754	1.95;1.98;1.97;1.97;0.65;1.99	6.16	6.16	0.99307	Armadillo-type fold (1);	0.149917	0.85682	D	0.000000	T	0.60051	0.2239	M	0.62723	1.935	0.58432	D	0.999994	D;D;D;P	0.63880	0.988;0.993;0.993;0.938	P;P;P;P	0.53360	0.533;0.724;0.533;0.619	T	0.63607	-0.6599	10	0.87932	D	0	-17.4911	16.8061	0.85666	0.0:0.0:0.0:1.0	.	572;572;572;572	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	C	572;572;572;572;341;572;340	ENSP00000263710:S572C;ENSP00000389372:S572C;ENSP00000380717:S572C;ENSP00000441625:S572C;ENSP00000441770:S341C;ENSP00000386442:S572C	ENSP00000263710:S572C	S	-	1	0	CLASP1	121922349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.814000	0.69208	2.367000	0.80283	0.528000	0.53228	AGT	.		0.443	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		A	122205879	T	A	122205879	3	1	4	1	0	0	0	0	1	0	0	0	3461	1609	56	5	3046	5	CLASP1	2	122205879	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	9260885	122205879	120993494	20	270											
MYO7B	4648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128347750	128347750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaaaatcctgaccaaCtgccagccttacttcatccg	6	14	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:128347750C>A	ENST00000409816.2	+	15	1970	c.1938C>A	c.(1936-1938)aaC>aaA	p.N646K	MYO7B_ENST00000389524.4_Missense_Mutation_p.N646K|MYO7B_ENST00000428314.1_Missense_Mutation_p.N646K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	646	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCTGACCAACTGCCAGCCTT	0.517																																					p.N646K		.											.	MYO7B-47	0			c.C1938A						.						61	61	61					2																	128347750		1945	4147	6092	SO:0001583	missense	4648	exon16			GACCAACTGCCAG		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1938C>A	2.37:g.128347750C>A	ENSP00000386461:p.Asn646Lys	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	168	38	NM_001080527	0	0	0	0	0	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	5.098	0.203637	0.09704	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.86694	-2.16;-2.16;-2.16	5.39	-1.01	0.10169	Myosin head, motor domain (2);	1.167850	0.06134	N	0.671191	T	0.71333	0.3327	N	0.10874	0.06	0.09310	N	0.99999	B	0.18741	0.03	B	0.20577	0.03	T	0.55854	-0.8075	10	0.24483	T	0.36	.	3.0594	0.06195	0.0999:0.4704:0.1072:0.3225	.	646	Q6PIF6	MYO7B_HUMAN	K	646	ENSP00000374175:N646K;ENSP00000415090:N646K;ENSP00000386461:N646K	ENSP00000374175:N646K	N	+	3	2	MYO7B	128064220	0.003000	0.15002	0.227000	0.23927	0.985000	0.73830	0.030000	0.13688	-0.218000	0.10018	0.550000	0.68814	AAC	.		0.517	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128347750	C	A	128347750	3	1	4	1	0	0	0	0	1	0	0	0	10121	564	20	3	1996	3	MYO7B	2	128347750	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	6141871	128347750	114851623	21	271											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	179621430	179621430	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttccttttgagatattttGctctcctcctttgtgaaaga	6	8	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:179621430G>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3420R|TTN_ENST00000589042.1_Missense_Mutation_p.S3591R|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATATTTTGCTCTCCTCCT	0.418																																					p.S3591R		.											.	TTN-636	0			c.C10773A						.						87	84	85					2																	179621430		1890	4112	6002	SO:0001627	intron_variant	7273	exon46			TATTTTGCTCTCC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2280C>A	2.37:g.179621430G>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	96	7	NM_001267550	0	0	0	0	0	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	4.969	0.179953	0.09443	.	.	ENSG00000155657	ENST00000342175	T	0.59364	0.27	6.02	4.13	0.48395	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.09310	N	0.999996	B	0.18166	0.026	B	0.15484	0.013	T	0.36890	-0.9729	8	0.87932	D	0	.	3.8761	0.09058	0.1439:0.1306:0.5904:0.1351	.	3420	E7ET18	.	R	3420	ENSP00000340554:S3420R	ENSP00000340554:S3420R	S	-	3	2	TTN	179329675	0.060000	0.20803	0.149000	0.22428	0.274000	0.26718	0.427000	0.21379	1.555000	0.49500	0.655000	0.94253	AGC	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179621430	G	T	179621430	1	4	4	0	1	0	0	0	0	0	0	0	16784	1310	46	3		3	TTN	2	179621430	Intron	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	51273680	179621430	63577943	22	272											
PARD3B	117583	bcgsc.ca	37	chr2	206364737	206364737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagagcaaggccatcTgagtatgacctactctgggt	13	8	2	3	rs10197347	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:206364737T>C	ENST00000406610.2	+	21	3369	c.3162T>C	c.(3160-3162)tcT>tcC	p.S1054S	PARD3B_ENST00000358768.2_Silent_p.S992S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Silent_p.S985S|PARD3B_ENST00000349953.3_Silent_p.S953S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1054					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAGGCCATCTGAGTATGACC	0.438													T|||	2246	0.448482	0.3601	0.5692	5008	,	,		21928	0.4871		0.4115	False		,,,				2504	0.4806				p.S992S		.											.	PARD3B-140	0			c.T2976C						.	T	,,	1436,2416		266,904,756	216	198	203		2955,2976,2859	2.5	1	2	dbSNP_119	203	3152,5096		639,1874,1611	yes	coding-synonymous,coding-synonymous,coding-synonymous	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	,,	905,2778,2367	CC,CT,TT		38.2153,37.2793,37.9174	,,	985/1137,992/1144,953/1105	206364737	4588,7512	1926	4124	6050	SO:0001819	synonymous_variant	117583	exon20			GCCATCTGAGTAT	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3162T>C	2.37:g.206364737T>C		Somatic	155	1		WXS	Illumina GAIIx	Phase_I	110	5	NM_152526	0	0	0	0	0	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																				T|0.587;C|0.413		0.438	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		C	206364737	T	C	206364737	2	2	4	1	0	0	0	0	0	0	0	1	11483	1567	55	4		4	PARD3B	2	206364737	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	26743307	206364737	36834636	23	273											
CRYGB	1419	bcgsc.ca	37	chr2	209007559	209007559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtcctgaacagagaTacagtcgtctgtgagctctg	13	9	2	3	rs796287	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:209007559T>G	ENST00000260988.4	-	3	378	c.331A>C	c.(331-333)Atc>Ctc	p.I111L		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	111	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.		I -> L (in dbSNP:rs796287). {ECO:0000269|PubMed:12011157, ECO:0000269|PubMed:12676897, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2777080, ECO:0000269|PubMed:4065573}.		lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TGAACAGAGATACAGTCGTCT	0.517													G|||	3228	0.644569	0.6203	0.5447	5008	,	,		17939	0.5952		0.7326	False		,,,				2504	0.7086				p.I111L		.											.	CRYGB-90	0			c.A331C						.	G	LEU/ILE	2978,1428	465.9+/-354.3	1033,912,258	145	145	145		331	0.5	0.1	2	dbSNP_86	145	6334,2266	384.1+/-341.0	2333,1668,299	yes	missense	CRYGB	NM_005210.3	5	3366,2580,557	GG,GT,TT		26.3488,32.4103,28.4023	benign	111/176	209007559	9312,3694	2203	4300	6503	SO:0001583	missense	1419	exon3			CAGAGATACAGTC		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.331A>C	2.37:g.209007559T>G	ENSP00000260988:p.Ile111Leu	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_005210	0	0	0	0	0	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	1385	0.6341575091575091	319	0.6483739837398373	206	0.569060773480663	315	0.5506993006993007	545	0.7189973614775725	G	10.87	1.474126	0.26423	0.675897	0.736512	ENSG00000182187	ENST00000260988	T	0.75589	-0.95	4.64	0.468	0.16732	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.463806	0.25377	N	0.031104	T	0.00012	0.0000	N	0.01668	-0.77	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	9	0.54805	T	0.06	.	9.4649	0.38806	0.0:0.128:0.3464:0.5255	rs796287;rs17641392;rs58328262;rs796287	111	P07316	CRGB_HUMAN	L	111	ENSP00000260988:I111L	ENSP00000260988:I111L	I	-	1	0	CRYGB	208715804	0.005000	0.15991	0.102000	0.21198	0.613000	0.37349	0.827000	0.27421	-0.247000	0.09597	-0.217000	0.12591	ATC	G|0.655;N|0.000		0.517	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		G	209007559	T	G	209007559	3	3	4	1	0	0	0	0	1	0	0	0	3922	1406	49	5	200	5	CRYGB	2	209007559	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	2642822	209007559	34191814	24	274											
PIKFYVE	200576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	209216103	209216103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttattttgaagcaaatgcCtcgtctggaagtccagtcct	8	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:209216103C>G	ENST00000264380.4	+	38	5797	c.5639C>G	c.(5638-5640)cCt>cGt	p.P1880R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1880	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGCAAATGCCTCGTCTGGAA	0.333																																					p.P1880R		.											.	PIKFYVE-583	0			c.C5639G						.						136	140	139					2																	209216103		2203	4300	6503	SO:0001583	missense	200576	exon38			AAATGCCTCGTCT	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.5639C>G	2.37:g.209216103C>G	ENSP00000264380:p.Pro1880Arg	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	49	18	NM_015040	0	0	0	0	0	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533808	0.85812	.	.	ENSG00000115020	ENST00000264380	T	0.32753	1.44	5.91	5.91	0.95273	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	N	0.12637	0.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48917	-0.8992	10	0.72032	D	0.01	-18.8868	20.2896	0.98541	0.0:1.0:0.0:0.0	.	1880	Q9Y2I7	FYV1_HUMAN	R	1880	ENSP00000264380:P1880R	ENSP00000264380:P1880R	P	+	2	0	PIKFYVE	208924348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.794000	0.96219	0.655000	0.94253	CCT	.		0.333	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209216103	C	G	209216103	3	3	4	1	0	0	0	0	1	0	0	0	11963	681	24	3	5796	3	PIKFYVE	2	209216103	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	208544	209216103	33983270	25	275											
TMEM169	92691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	216960742	216960742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaagcccccaccaggGctctctcaggaaggctgtgg	12	15	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr2:216960742G>A	ENST00000295658.4	+	2	263	c.56G>A	c.(55-57)gGc>gAc	p.G19D	TMEM169_ENST00000437356.2_Missense_Mutation_p.G19D|TMEM169_ENST00000454545.1_Missense_Mutation_p.G19D|TMEM169_ENST00000406027.2_Missense_Mutation_p.G19D	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	19						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCACCAGGGCTCTCTCAGG	0.547																																					p.G19D		.											.	TMEM169-69	0			c.G56A						.						49	54	52					2																	216960742		2203	4300	6503	SO:0001583	missense	92691	exon3			ACCAGGGCTCTCT	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.56G>A	2.37:g.216960742G>A	ENSP00000295658:p.Gly19Asp	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	72	32	NM_001142310	0	0	0	0	0	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995697	0.19043	.	.	ENSG00000163449	ENST00000433112;ENST00000454545;ENST00000437356;ENST00000295658;ENST00000455479;ENST00000406027	.	.	.	5.04	4.16	0.48862	.	0.306710	0.36268	N	0.002698	T	0.41627	0.1167	L	0.56769	1.78	0.23816	N	0.996762	B	0.06786	0.001	B	0.09377	0.004	T	0.25984	-1.0116	9	0.15066	T	0.55	-21.7381	12.7333	0.57210	0.0788:0.0:0.9212:0.0	.	19	Q96HH4	TM169_HUMAN	D	19	.	ENSP00000295658:G19D	G	+	2	0	TMEM169	216668987	0.999000	0.42202	0.895000	0.35142	0.207000	0.24258	2.074000	0.41529	1.372000	0.46190	0.306000	0.20318	GGC	.		0.547	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		A	216960742	G	A	216960742	3	1	4	1	0	0	0	0	1	0	0	0	16131	1203	42	3	58	3	TMEM169	2	216960742	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	7744639	216960742	26238631	26	276											
SETMAR	6419	broad.mit.edu	37	chr3	4355141	4355141	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattcctgtccgaattgactCaatggtacctaagttggcac	9	10	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:4355141C>T	ENST00000358065.4	+	2	783	c.716C>T	c.(715-717)tCa>tTa	p.S239L	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.S239L	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	239	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CGAATTGACTCAATGGTACCT	0.358								Chromatin Structure																													p.S239L		.											.	SETMAR-91	0			c.C716T						.						78	79	79					3																	4355141		2203	4300	6503	SO:0001583	missense	6419	exon2			TTGACTCAATGGT	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.716C>T	3.37:g.4355141C>T	ENSP00000373354:p.Ser239Leu	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	206	5	NM_006515	0	0	0	0	0	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005441	0.74932	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.89939	-2.59;-2.59	5.18	4.31	0.51392	SET domain (3);	.	.	.	.	D	0.92169	0.7517	L	0.50919	1.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	D	0.92641	0.6124	9	0.87932	D	0	.	13.7272	0.62765	0.0:0.9258:0.0:0.0742	.	226;239	Q53H47;C9JHK2	SETMR_HUMAN;.	L	239	ENSP00000373354:S239L;ENSP00000403000:S239L	ENSP00000373354:S239L	S	+	2	0	SETMAR	4330141	1.000000	0.71417	0.988000	0.46212	0.717000	0.41224	7.337000	0.79256	1.172000	0.42781	-0.140000	0.14226	TCA	.		0.358	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		T	4355141	C	T	4355141	3	4	4	1	0	0	0	0	1	0	0	0	14185	838	29	3	722	3	SETMAR	3	4355141	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		4355141	193667289	27	277											
KCNH8	131096	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	19554465	19554465	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatccactgatttagtcaGagcccaagggaaatggcaac	9	9	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:19554465G>T	ENST00000328405.2	+	13	2349	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	695					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						GATTTAGTCAGAGCCCAAGGG	0.448																																					p.E695X	NSCLC(124;1625 1765 8018 24930 42026)	.											.	KCNH8-524	0			c.G2083T						.						38	38	38					3																	19554465		2203	4300	6503	SO:0001587	stop_gained	131096	exon13			TAGTCAGAGCCCA	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.2083G>T	3.37:g.19554465G>T	ENSP00000328813:p.Glu695*	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	141	51	NM_144633	0	0	0	0	0	B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	41	8.667986	0.98908	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.44	5.44	0.79542	.	0.000000	0.31821	U	0.007019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4503	0.87590	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	.	E	+	1	0	KCNH8	19529469	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.394000	0.73223	2.559000	0.86315	0.585000	0.79938	GAG	.		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19554465	G	T	19554465	4	4	4	1	0	0	0	0	0	1	0	0	8065	943	33	3	2133	3	KCNH8	3	19554465	Nonsense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	15199324	19554465	178467965	28	278											
SCN11A	11280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38966970	38966970	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtacgcaggggcaatagtttGatggtgattcctggaatata	13	5	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:38966970G>C	ENST00000302328.3	-	5	846	c.648C>G	c.(646-648)atC>atG	p.I216M	SCN11A_ENST00000450244.1_Missense_Mutation_p.I216M|SCN11A_ENST00000456224.3_Missense_Mutation_p.I216M|SCN11A_ENST00000444237.2_Missense_Mutation_p.I216M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	216					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAATAGTTTGATGGTGATTC	0.468																																					p.I216M		.											.	SCN11A-99	0			c.C648G						.						164	138	147					3																	38966970		2203	4300	6503	SO:0001583	missense	11280	exon5			TAGTTTGATGGTG	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.648C>G	3.37:g.38966970G>C	ENSP00000307599:p.Ile216Met	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	177	85	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904631	0.33628	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.79	3.9	0.45041	Ion transport (1);	0.471650	0.23095	N	0.051983	D	0.95379	0.8500	L	0.41906	1.305	0.23930	N	0.996432	B	0.19073	0.033	B	0.17098	0.017	D	0.88861	0.3326	10	0.34782	T	0.22	.	10.3596	0.43984	0.097:0.0:0.903:0.0	.	216	Q9UI33	SCNBA_HUMAN	M	216	ENSP00000307599:I216M;ENSP00000400945:I216M;ENSP00000416757:I216M;ENSP00000408028:I216M	ENSP00000307599:I216M	I	-	3	3	SCN11A	38941974	0.022000	0.18835	0.520000	0.27837	0.049000	0.14656	0.211000	0.17474	2.367000	0.80283	0.467000	0.42956	ATC	.		0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		C	38966970	G	C	38966970	3	2	4	1	0	0	0	0	1	0	0	0	13958	1280	45	3	4815	3	SCN11A	3	38966970	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	19412505	38966970	159055460	29	279											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	4	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	27583792	66550762	131471668	30	280											
CHMP2B	25978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	87294944	87294944	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacaacttgtgcatctacgGaaacagaagacgagaacttt	8	8	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:87294944G>A	ENST00000263780.4	+	3	445	c.207G>A	c.(205-207)cgG>cgA	p.R69R	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Silent_p.R28R|CHMP2B_ENST00000494980.1_Silent_p.R69R	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	69					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGCATCTACGGAAACAGAAGA	0.353																																					p.R69R		.											.	CHMP2B-229	0			c.G207A						.						82	86	85					3																	87294944		2203	4300	6503	SO:0001819	synonymous_variant	25978	exon3			TCTACGGAAACAG	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.207G>A	3.37:g.87294944G>A		Somatic	263	0		WXS	Illumina GAIIx	Phase_I	303	109	NM_014043	0	0	0	0	0	B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	CCDS2918.1																																																																																			.		0.353	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		A	87294944	G	A	87294944	2	1	4	1	0	0	0	0	0	0	0	1	3362	1161	41	3		3	CHMP2B	3	87294944	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	20744182	87294944	110727486	31	281											
MYLK	4638	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	123419214	123419214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttgcccattggcttcaggGtctcagcaggcttggcgttg	14	11	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:123419214G>T	ENST00000475616.1	-	15	3100	c.3101C>A	c.(3100-3102)aCc>aAc	p.T1034N	MYLK_ENST00000360772.3_Missense_Mutation_p.T1034N|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.T1034N|MYLK_ENST00000346322.5_Missense_Mutation_p.T965N|MYLK_ENST00000360304.3_Missense_Mutation_p.T1034N			Q15746	MYLK_HUMAN	myosin light chain kinase	1034	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCTTCAGGGTCTCAGCAGG	0.582																																					p.T1034N		.											.	MYLK-365	0			c.C3101A						.						141	147	145					3																	123419214		2203	4300	6503	SO:0001583	missense	4638	exon18			TTCAGGGTCTCAG	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.3101C>A	3.37:g.123419214G>T	ENSP00000418335:p.Thr1034Asn	Somatic	144	2		WXS	Illumina GAIIx	Phase_I	151	33	NM_053025	0	0	0	0	0	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	9.886	1.202804	0.22121	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68331	-0.32;-0.25;-0.32;-0.32;-0.25	5.53	3.74	0.42951	.	.	.	.	.	T	0.69797	0.3151	M	0.72894	2.215	0.80722	D	1	P;P;P;P;D;B	0.58970	0.898;0.741;0.893;0.57;0.984;0.434	P;P;P;B;P;B	0.56788	0.595;0.448;0.568;0.367;0.806;0.166	T	0.66666	-0.5866	9	0.15499	T	0.54	.	5.318	0.15866	0.1693:0.0:0.6268:0.2038	.	1034;112;965;1034;965;1034	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	N	1034;1034;1034;965;1034	ENSP00000354004:T1034N;ENSP00000353452:T1034N;ENSP00000352088:T1034N;ENSP00000320622:T965N;ENSP00000418335:T1034N	ENSP00000320622:T965N	T	-	2	0	MYLK	124901904	0.819000	0.29175	1.000000	0.80357	0.295000	0.27426	1.207000	0.32333	0.702000	0.31825	0.455000	0.32223	ACC	.		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123419214	G	T	123419214	3	4	4	1	0	0	0	0	1	0	0	0	10094	1261	44	3	2711	3	MYLK	3	123419214	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	36124270	123419214	74603216	32	282											
SMC4	10051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	160148934	160148934	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttagtattaagttgaaacttGaacaaatagatggtcacatt	7	4	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:160148934G>C	ENST00000357388.3	+	20	3506	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q	SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E994Q|SMC4_ENST00000344722.5_Missense_Mutation_p.E1019Q|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1019					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)			GTTGAAACTTGAACAAATAGA	0.294																																					p.E1019Q		.											.	SMC4-291	0			c.G3055C						.						45	46	46					3																	160148934		2203	4298	6501	SO:0001583	missense	10051	exon19			AAACTTGAACAAA	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.3055G>C	3.37:g.160148934G>C	ENSP00000349961:p.Glu1019Gln	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	227	54	NM_005496	0	0	0	0	0	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841770	0.71488	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.76839	-1.05;-1.01;-1.05	5.95	5.95	0.96441	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	L	0.60957	1.885	0.80722	D	1	B;D;D	0.89917	0.41;1.0;0.993	P;D;D	0.87578	0.45;0.998;0.914	T	0.82333	-0.0509	10	0.27785	T	0.31	-26.7875	20.3967	0.98985	0.0:0.0:1.0:0.0	.	994;994;1019	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	Q	1019;994;1019;613	ENSP00000349961:E1019Q;ENSP00000417964:E994Q;ENSP00000341382:E1019Q	ENSP00000341382:E1019Q	E	+	1	0	SMC4	161631628	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.192000	0.94947	2.829000	0.97493	0.655000	0.94253	GAA	.		0.294	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			C	160148934	G	C	160148934	3	2	4	1	0	0	0	0	1	0	0	0	14830	1291	45	3	3129	3	SMC4	3	160148934	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	36729720	160148934	37873496	33	283											
FXR1	8087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	180687983	180687983	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaatccatacagcttactTgataatacagaatcagatca	5	9	2	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:180687983T>A	ENST00000357559.4	+	15	1824	c.1440T>A	c.(1438-1440)ctT>ctA	p.L480L	FXR1_ENST00000445140.2_Silent_p.L480L|FXR1_ENST00000491062.1_Silent_p.L431L|FXR1_ENST00000468861.1_Silent_p.L395L|FXR1_ENST00000480918.1_Silent_p.L467L|FXR1_ENST00000305586.7_Silent_p.L395L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	480					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACAGCTTACTTGATAATACAG	0.418																																					p.L480L		.											.	FXR1-153	0			c.T1440A						.						104	94	98					3																	180687983		2203	4300	6503	SO:0001819	synonymous_variant	8087	exon15			CTTACTTGATAAT	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1440T>A	3.37:g.180687983T>A		Somatic	224	0		WXS	Illumina GAIIx	Phase_I	232	26	NM_001013438	0	0	0	0	0	A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407968	0.25378	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.91	4.77	0.60923	.	0.114678	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.0485	8.5286	0.33319	0.0:0.0683:0.1316:0.8001	.	.	.	.	X	81	.	.	L	+	2	0	FXR1	182170677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.622000	0.36997	2.263000	0.75096	0.528000	0.53228	TTG	.		0.418	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			A	180687983	T	A	180687983	2	1	4	1	0	0	0	0	0	0	0	1	6139	1799	63	5		5	FXR1	3	180687983	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	20539049	180687983	17334447	34	284											
DGKG	1608	hgsc.bcm.edu	37	chr3	185985480	185985480	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaggagcacttacccgggtGatggggcatatggaggtggg	19	7	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:185985480G>T	ENST00000265022.3	-	13	1742	c.1203C>A	c.(1201-1203)atC>atA	p.I401I	DGKG_ENST00000382164.4_Silent_p.I362I|DGKG_ENST00000544847.1_Silent_p.I362I|DGKG_ENST00000344484.4_Silent_p.I401I	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	401					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)	TTACCCGGGTGATGGGGCATA	0.542																																					p.I401I		.											.	DGKG-714	0			c.C1203A						.						108	107	107					3																	185985480		2203	4300	6503	SO:0001819	synonymous_variant	1608	exon13			CCGGGTGATGGGG	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.1203C>A	3.37:g.185985480G>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_001346	0	0	0	0	0	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																			.		0.542	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			T	185985480	G	T	185985480	2	4	4	1	0	0	0	0	0	0	0	1	4483	1280	45	3		3	DGKG	3	185985480	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	5297497	185985480	12036950	35	285											
ATP13A5	344905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	193032830	193032830	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttggtttcttttttcaAgcgattctccatgatgagaa	8	7	3	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr3:193032830A>G	ENST00000342358.4	-	18	2206	c.2089T>C	c.(2089-2091)Ttg>Ctg	p.L697L	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'Flank	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	697						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)		TCTTTTTTCAAGCGATTCTCC	0.398																																					p.L697L		.											.	ATP13A5-144	0			c.T2089C						.						137	131	133					3																	193032830		2203	4300	6503	SO:0001819	synonymous_variant	344905	exon18			TTTTCAAGCGATT	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.2089T>C	3.37:g.193032830A>G		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	68	23	NM_198505	0	0	0	0	0	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																			.		0.398	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		G	193032830	A	G	193032830	2	3	4	1	0	0	0	0	0	0	0	1	1128	69	3	4		4	ATP13A5	3	193032830	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	7047350	193032830	4989600	36	286											
PIGG	54872	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	517287	517289	+	In_Frame_Del	DEL	CTT	CTT	-													caaggtggtcagagctagacCttcttattctgttggggacg							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:517287_517289delCTT	ENST00000453061.2	+	9	1760_1762	c.1654_1656delCTT	c.(1654-1656)cttdel	p.L553del	PIGG_ENST00000383028.4_In_Frame_Del_p.L420del|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_In_Frame_Del_p.L545del|PIGG_ENST00000504346.1_In_Frame_Del_p.L464del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	553					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGAGCTAGACCTTCTTATTCTGT	0.547																																					p.552_552del		.											.	PIGG-92	0			c.1654_1656del						.		,	0,4250		0,0,2125					,	-8.5	0			210	4,8240		1,2,4119	no	coding,coding	PIGG	NM_017733.3,NM_001127178.1	,	1,2,6244	A1A1,A1R,RR		0.0485,0.0,0.032	,	,		4,12490				SO:0001651	inframe_deletion	54872	exon9			CTAGACCTTCTTA		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1654_1656delCTT	4.37:g.517290_517292delCTT	ENSP00000415203:p.Leu553del	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	248	64	NM_001127178	0	0	0	0	0	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	In_Frame_Del	DEL	ENST00000453061.2	37	CCDS46992.1																																																																																			.		0.547	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		-	517289	CTT	-	517287	7	5	4	1	0	1	0	1	0	0	0	0	11927	681	24	0	1688	0	PIGG	4	517287	In_Frame_Del	DEL	CTT	TCGA-OR-A5J4-01A-11D-A29I-10		517287	190636989	37	287											
NMU	10874	hgsc.bcm.edu	37	chr4	56502307	56502307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagcggggacgccGcggccacctgtccggcgggc	19	15	0	0	rs3828555	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:56502307G>T	ENST00000264218.3	-	1	158	c.53C>A	c.(52-54)gCg>gAg	p.A18E	NMU_ENST00000511469.1_Missense_Mutation_p.A18E|NMU_ENST00000505262.1_Missense_Mutation_p.A18E|NMU_ENST00000507338.1_Missense_Mutation_p.A18E|NMU_ENST00000515325.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	18					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		cGGGGACGCCGCGGCCACCTG	0.761													G|||	730	0.145767	0.0764	0.2003	5008	,	,		10197	0.3343		0.0199	False		,,,				2504	0.136				p.A18E		.											.	NMU-650	0			c.C53A						.	G	GLU/ALA	168,3058		3,162,1448	5	7	6		53	0.1	0	4	dbSNP_107	6	138,5846		0,138,2854	no	missense	NMU	NM_006681.2	107	3,300,4302	TT,TG,GG		2.3061,5.2077,3.3225	probably-damaging	18/175	56502307	306,8904	1613	2992	4605	SO:0001583	missense	10874	exon1			GACGCCGCGGCCA	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.53C>A	4.37:g.56502307G>T	ENSP00000264218:p.Ala18Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_006681	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	315	0.14423076923076922	55	0.11178861788617886	55	0.15193370165745856	187	0.3269230769230769	18	0.023746701846965697	G	17.40	3.379938	0.61845	0.052077	0.023061	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.35973	1.28;1.42;1.4;1.39	2.89	0.0796	0.14417	.	1.355690	0.05554	U	0.568010	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	P	0.38827	0.649	B	0.37015	0.239	T	0.31110	-0.9955	9	0.62326	D	0.03	-4.4644	5.3309	0.15932	0.4241:0.0:0.5759:0.0	rs3828555	18	P48645	NMU_HUMAN	E	18	ENSP00000422399:A18E;ENSP00000264218:A18E;ENSP00000424246:A18E;ENSP00000422870:A18E	ENSP00000264218:A18E	A	-	2	0	NMU	56197064	0.000000	0.05858	0.003000	0.11579	0.256000	0.26092	0.190000	0.17057	-0.022000	0.13986	0.195000	0.17529	GCG	G|0.853;T|0.147		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56502307	G	T	56502307	3	4	4	1	0	0	0	0	1	0	0	0	10544	1087	38	2	507	2	NMU	4	56502307	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	55985020	56502307	134651969	38	288											
DSPP	1834	bcgsc.ca	37	chr4	88537294	88537294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgacagcagcgacagcagTgacagcagcgatagcagcga	14	10	0	2	rs111216206		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:88537294T>C	ENST00000282478.7	+	4	3513	c.3480T>C	c.(3478-3480)agT>agC	p.S1160S	DSPP_ENST00000399271.1_Silent_p.S1160S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1160	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)		gcgacagcagtgacagcagcg	0.567																																					p.S1160S		.											.	DSPP-90	0			c.T3480C						.						43	58	53					4																	88537294		1580	2849	4429	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGACAGC	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.3480T>C	4.37:g.88537294T>C		Somatic	782	16		WXS	Illumina GAIIx	Phase_I	569	157	NM_014208	0	0	0	0	0	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		C	88537294	T	C	88537294	2	2	4	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537294	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	32034987	88537294	102616982	39	289											
SH3D19	152503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	152043252	152043252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagcttctcctctagctgatCtgtagaaactgtatgtagtt	8	8	3	2	rs199694166		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:152043252C>G	ENST00000409252.2	-	20	3071	c.2364G>C	c.(2362-2364)caG>caC	p.Q788H	SH3D19_ENST00000514152.1_Missense_Mutation_p.Q765H|SH3D19_ENST00000409598.4_Missense_Mutation_p.Q765H|SH3D19_ENST00000427414.2_Missense_Mutation_p.Q729H|SH3D19_ENST00000304527.4_Missense_Mutation_p.Q788H|SH3D19_ENST00000455740.1_Missense_Mutation_p.Q765H|SH3D19_ENST00000424281.1_Missense_Mutation_p.Q729H			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	788	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCTAGCTGATCTGTAGAAACT	0.363																																					p.Q788H		.											.	SH3D19-92	0			c.G2364C						.						130	128	129					4																	152043252		2203	4300	6503	SO:0001583	missense	152503	exon21			GCTGATCTGTAGA	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2364G>C	4.37:g.152043252C>G	ENSP00000386848:p.Gln788His	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	49	19	NM_001009555	0	0	0	0	0	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	c	9.357	1.066901	0.20067	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.44	-0.483	0.12075	Src homology-3 domain (3);	0.528865	0.17331	N	0.178115	T	0.30070	0.0753	N	0.25094	0.71	0.09310	N	0.999995	D;D;D;D	0.67145	0.993;0.996;0.988;0.993	P;D;P;P	0.63597	0.758;0.916;0.816;0.825	T	0.11941	-1.0567	10	0.62326	D	0.03	-3.2055	4.1919	0.10424	0.1202:0.0668:0.3747:0.4383	.	788;765;729;543	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	H	765;788;765;729;729;788;765	ENSP00000387030:Q765H;ENSP00000302913:Q788H;ENSP00000416708:Q765H;ENSP00000404542:Q729H;ENSP00000415694:Q729H;ENSP00000386848:Q788H;ENSP00000423449:Q765H	ENSP00000302913:Q788H	Q	-	3	2	SH3D19	152262702	0.997000	0.39634	0.990000	0.47175	0.019000	0.09904	0.880000	0.28159	-0.227000	0.09884	-1.372000	0.01188	CAG	C|0.999;A|0.001		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		G	152043252	C	G	152043252	3	3	4	1	0	0	0	0	1	0	0	0	14294	912	32	3	12	3	SH3D19	4	152043252	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	63505958	152043252	39111024	40	290											
DCHS2	54798	broad.mit.edu	37	chr4	155411939	155411939	+	Missense_Mutation	SNP	A	A	C													cggcgtccggatcgtgggcaActggcaggcggaaggcggtc					rs17373874	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:155411939A>C	ENST00000339452.1	-	1	929	c.569T>G	c.(568-570)gTt>gGt	p.V190G	DCHS2_ENST00000456341.2_Missense_Mutation_p.V183G|DCHS2_ENST00000443500.1_Missense_Mutation_p.V190G	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1396	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCGTGGGCAACTGGCAGGCG	0.662													C|||	2034	0.40615	0.466	0.4986	5008	,	,		15381	0.1667		0.4632	False		,,,				2504	0.4479				p.V190G		.											.	DCHS2-94	0			c.T569G						.	C	GLY/VAL,GLY/VAL	695,689		176,343,173	25	33	31		569,569	3.8	0.4	4	dbSNP_123	31	1428,1754		333,762,496	yes	missense,missense	DCHS2	NM_001142552.1,NM_001142553.1	109,109	509,1105,669	CC,CA,AA		44.8774,49.7832,46.4958	,	190/1370,190/710	155411939	2123,2443	692	1591	2283	SO:0001583	missense	54798	exon1			TGGGCAACTGGCA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.569T>G	4.37:g.155411939A>C	ENSP00000345062:p.Val190Gly	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	147	4	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	829	0.37957875457875456	219	0.4451219512195122	175	0.48342541436464087	82	0.14335664335664336	353	0.4656992084432718	C	0.010	-1.759958	0.00657	0.502168	0.448774	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.59906	0.23;0.23;0.23	4.72	3.81	0.43845	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27730	P	0.9448348	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41466	-0.9507	7	0.06757	T	0.87	.	8.3588	0.32346	0.1347:0.4827:0.3826:0.0	rs17373874;rs17373874	190;190	E9PG03;E9PC11	.;.	G	190;190;183;190	ENSP00000345062:V190G;ENSP00000408543:V183G;ENSP00000395539:V190G	ENSP00000345062:V190G	V	-	2	0	DCHS2	155631389	0.480000	0.25933	0.436000	0.26797	0.097000	0.18754	2.713000	0.47194	0.988000	0.38734	-0.358000	0.07595	GTT	A|0.633;C|0.367		0.662	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		C	155411939	A	C	155411939	3	2	4	1	0	0	0	0	1	0	0	0	4297	43	2	5	10515	5	DCHS2	4	155411939	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	3368687	155411939	35742337	41	291	7	2									
DCHS2	54798	broad.mit.edu	37	chr4	155411948	155411948	+	Missense_Mutation	SNP	C	C	A													gatcgtgggcaactggcaggCggaaggcggtccctggcggg					rs184619033	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr4:155411948C>A	ENST00000339452.1	-	1	920	c.560G>T	c.(559-561)cGc>cTc	p.R187L	DCHS2_ENST00000456341.2_Missense_Mutation_p.R180L|DCHS2_ENST00000443500.1_Missense_Mutation_p.R187L	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1394	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGGCAGGCGGAAGGCGGT	0.667													C|||	9	0.00179712	0	0.0043	5008	,	,		15164	0		0.005	False		,,,				2504	0.001				p.R187L		.											.	DCHS2-94	0			c.G560T						.	C	LEU/ARG,LEU/ARG	1,1383		0,1,691	22	30	28		560,560	4.7	1	4		28	20,3162		0,20,1571	yes	missense,missense	DCHS2	NM_001142552.1,NM_001142553.1	102,102	0,21,2262	AA,AC,CC		0.6285,0.0723,0.4599	,	187/1370,187/710	155411948	21,4545	692	1591	2283	SO:0001583	missense	54798	exon1			GGCAGGCGGAAGG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.560G>T	4.37:g.155411948C>A	ENSP00000345062:p.Arg187Leu	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	152	3	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	14.58	2.577376	0.45902	7.23E-4	0.006285	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.63417	-0.04;-0.04;-0.04	4.72	4.72	0.59763	.	.	.	.	.	T	0.53094	0.1775	N	0.11131	0.1	0.21445	N	0.999689	B;D	0.64830	0.158;0.994	B;P	0.62560	0.094;0.904	T	0.56402	-0.7985	9	0.27082	T	0.32	.	17.2923	0.87160	0.0:1.0:0.0:0.0	.	187;187	E9PG03;E9PC11	.;.	L	187;187;180;187	ENSP00000345062:R187L;ENSP00000408543:R180L;ENSP00000395539:R187L	ENSP00000345062:R187L	R	-	2	0	DCHS2	155631398	0.984000	0.35163	1.000000	0.80357	0.273000	0.26683	0.206000	0.17375	2.162000	0.67917	0.462000	0.41574	CGC	C|0.997;A|0.003		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		A	155411948	C	A	155411948	3	1	4	1	0	0	0	0	1	0	0	0	4297	768	27	2	10524	2	DCHS2	4	155411948	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	9	155411948	35742328	42	292	7	2									
PDCD6	10016	broad.mit.edu	37	chr5	311455	311455	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatcctcattcgaaagtttGacaggcagggacgggggcag	14	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:311455G>C	ENST00000264933.4	+	5	515	c.415G>C	c.(415-417)Gac>Cac	p.D139H	AHRR_ENST00000316418.5_Intron|PDCD6_ENST00000511482.1_3'UTR|PDCD6_ENST00000505221.1_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.D137H|AHRR_ENST00000512529.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	139	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			TCGAAAGTTTGACAGGCAGGG	0.567																																					p.D139H		.											.	PDCD6-290	0			c.G415C						.						107	88	94					5																	311455		2203	4299	6502	SO:0001583	missense	10016	exon5			AAGTTTGACAGGC	AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.415G>C	5.37:g.311455G>C	ENSP00000264933:p.Asp139His	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	157	5	NM_013232	0	0	0	0	0	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000264933.4	37	CCDS3854.1	.	.	.	.	.	.	.	.	.	.	g	19.59	3.855789	0.71834	.	.	ENSG00000249915	ENST00000264933;ENST00000507528;ENST00000507473	D;D;D	0.96073	-2.83;-2.83;-3.9	5.83	5.83	0.93111	EF-hand-like domain (1);	.	.	.	.	D	0.98789	0.9592	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	D	0.99466	1.0944	9	0.87932	D	0	.	17.6162	0.88068	0.0:0.0:1.0:0.0	.	137;139	Q2YDC2;O75340	.;PDCD6_HUMAN	H	139;137;52	ENSP00000264933:D139H;ENSP00000423815:D137H;ENSP00000425370:D52H	ENSP00000264933:D139H	D	+	1	0	PDCD6	364455	1.000000	0.71417	0.992000	0.48379	0.265000	0.26407	9.352000	0.97076	2.763000	0.94921	0.655000	0.94253	GAC	.		0.567	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232		C	311455	G	C	311455	3	2	4	1	0	0	0	0	1	0	0	0	11662	1290	45	3	433	3	PDCD6	5	311455	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		311455	180603805	43	293											
RAD1	5810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	34913589	34913589	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtttacctggcataggacttGatccaaaaatagataaacag	8	7	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:34913589G>C	ENST00000382038.2	-	3	1712	c.293C>G	c.(292-294)tCa>tGa	p.S98*	RAD1_ENST00000341754.4_Nonsense_Mutation_p.S98*|BRIX1_ENST00000336767.5_5'Flank	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	98					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)			CATAGGACTTGATCCAAAAAT	0.318								Other conserved DNA damage response genes																													p.S98X		.											.	RAD1-227	0			c.C293G						.						40	42	41					5																	34913589		2203	4289	6492	SO:0001587	stop_gained	5810	exon3			GGACTTGATCCAA	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.293C>G	5.37:g.34913589G>C	ENSP00000371469:p.Ser98*	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	232	52	NM_002853	0	0	0	0	0	O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Nonsense_Mutation	SNP	ENST00000382038.2	37	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	G	44	11.127349	0.99519	.	.	ENSG00000113456	ENST00000382038;ENST00000341754	.	.	.	5.34	5.34	0.76211	.	0.142714	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4219	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000340879:S98X	S	-	2	0	RAD1	34949346	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.126000	0.71635	2.659000	0.90383	0.655000	0.94253	TCA	.		0.318	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		C	34913589	G	C	34913589	4	2	4	1	0	0	0	0	0	1	0	0	13023	1294	45	3	571	3	RAD1	5	34913589	Nonsense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	34602134	34913589	146001671	44	294											
EGFLAM	133584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	38427121	38427121	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttttttcagctttcaccttGaccattcctcagttcagaga	6	11	4	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:38427121G>C	ENST00000354891.3	+	14	2167	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	EGFLAM_ENST00000336740.6_Missense_Mutation_p.L373F|EGFLAM_ENST00000322350.5_Missense_Mutation_p.L607F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	607					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)					CTTTCACCTTGACCATTCCTC	0.488																																					p.L607F	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.G1821C						.						185	181	182					5																	38427121		2203	4300	6503	SO:0001583	missense	133584	exon14			CACCTTGACCATT	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.1821G>C	5.37:g.38427121G>C	ENSP00000346964:p.Leu607Phe	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	61	27	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346662	0.41599	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.80653	0.69;0.53;-1.4	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000001	D	0.84768	0.5545	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76575	0.988;0.981;0.986	D	0.85323	0.1085	10	0.56958	D	0.05	-1.0748	16.2433	0.82426	0.0:0.1326:0.8674:0.0	.	373;607;607	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	F	607;607;373;373	ENSP00000346964:L607F;ENSP00000313084:L607F;ENSP00000337607:L373F	ENSP00000313084:L607F	L	+	3	2	EGFLAM	38462878	1.000000	0.71417	0.417000	0.26559	0.050000	0.14768	5.096000	0.64535	2.732000	0.93576	0.655000	0.94253	TTG	.		0.488	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38427121	G	C	38427121	3	2	4	1	0	0	0	0	1	0	0	0	4980	1281	45	3	1889	3	EGFLAM	5	38427121	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3513532	38427121	142488139	45	295											
CARD6	84674	hgsc.bcm.edu;broad.mit.edu	37	chr5	40843294	40843294	+	Frame_Shift_Del	DEL	G	G	-													acagtacctcctcaatctatGggggcaagcagtaattcaga					rs149693777		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:40843294delG	ENST00000254691.5	+	2	523	c.324delG	c.(322-324)atgfs	p.M108fs	CARD6_ENST00000381677.3_Frame_Shift_Del_p.M108fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	108					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						CTCAATCTATGGGGGCAAGCA	0.383																																					p.M108fs		.											.	CARD6-230	0			c.324delG						.						56	63	61					5																	40843294		2203	4300	6503	SO:0001589	frameshift_variant	84674	exon2			ATCTATGGGGGCA	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.324delG	5.37:g.40843294delG	ENSP00000254691:p.Met108fs	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	54	13	NM_032587	0	0	0	0	0	Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	CCDS3935.1																																																																																			.		0.383	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			-	40843294	G	-	40843294	7	5	4	1	0	1	0	1	0	0	0	0	2657	1348	47	0	330	0	CARD6	5	40843294	Frame_Shift_Del	DEL	G	TCGA-OR-A5J4-01A-11D-A29I-10	2416173	40843294	140071966	46	296											
ELOVL7	79993	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	60067796	60067796	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatcattgctttcttgagTtcaaagggcttgcgattttc	9	7	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:60067796T>C	ENST00000508821.1	-	4	503	c.189A>G	c.(187-189)gaA>gaG	p.E63E	ELOVL7_ENST00000425382.1_Silent_p.E63E|ELOVL7_ENST00000438340.1_Silent_p.E63E|ELOVL7_ENST00000505959.1_Silent_p.E50E	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	63					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)				CTTTCTTGAGTTCAAAGGGCT	0.398																																					p.E63E		.											.	ELOVL7-90	0			c.A189G						.						88	83	85					5																	60067796		2203	4300	6503	SO:0001819	synonymous_variant	79993	exon3			CTTGAGTTCAAAG	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.189A>G	5.37:g.60067796T>C		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	219	61	NM_001104558	0	0	0	0	0	Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	CCDS34164.1																																																																																			.		0.398	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			C	60067796	T	C	60067796	2	2	4	1	0	0	0	0	0	0	0	1	5095	1722	60	4		4	ELOVL7	5	60067796	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	19224502	60067796	120847464	47	297											
MAP1B	4131	hgsc.bcm.edu;bcgsc.ca	37	chr5	71492991	71492991	+	Frame_Shift_Del	DEL	C	C	-													accatcacccttagaaaagaCccccctgggtgaacgtagtg							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:71492991delC	ENST00000296755.7	+	5	4107	c.3809delC	c.(3808-3810)accfs	p.T1270fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270					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)		TTAGAAAAGACCCCCCTGGGT	0.517																																					p.T1270fs	Melanoma(17;367 822 11631 31730 47712)	.											.	MAP1B-155	0			c.3809delC						.						71	71	71					5																	71492991		2203	4300	6503	SO:0001589	frameshift_variant	4131	exon5			AAAAGACCCCCCT	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.3809delC	5.37:g.71492991delC	ENSP00000296755:p.Thr1270fs	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	104	35	NM_005909	0	0	0	0	0	A2BDK5	Frame_Shift_Del	DEL	ENST00000296755.7	37	CCDS4012.1																																																																																			.		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		-	71492991	C	-	71492991	7	5	4	1	0	1	0	1	0	0	0	0	9266	507	18	0	3827	0	MAP1B	5	71492991	Frame_Shift_Del	DEL	C	TCGA-OR-A5J4-01A-11D-A29I-10	11425195	71492991	109422269	48	298											
MAP1B	4131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	71495181	71495181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaggatggtggccacaCacttggggaccccagctact	12	13	1	1	rs113459978		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:71495181C>A	ENST00000296755.7	+	5	6297	c.5999C>A	c.(5998-6000)aCa>aAa	p.T2000K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2000					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)		GGTGGCCACACACTTGGGGAC	0.463																																					p.T2000K	Melanoma(17;367 822 11631 31730 47712)	.											.	MAP1B-155	0			c.C5999A						.						138	147	144					5																	71495181		2203	4300	6503	SO:0001583	missense	4131	exon5			GCCACACACTTGG	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.5999C>A	5.37:g.71495181C>A	ENSP00000296755:p.Thr2000Lys	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	61	21	NM_005909	0	0	0	0	0	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084941	0.36758	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.51	4.65	0.58169	.	0.283692	0.30911	N	0.008637	T	0.02418	0.0074	N	0.08118	0	0.30850	N	0.734717	B;B	0.22909	0.077;0.077	B;B	0.22880	0.042;0.025	T	0.17289	-1.0374	10	0.45353	T	0.12	-4.0629	9.7659	0.40561	0.0:0.8439:0.0:0.1561	.	1874;2000	A2BDK6;P46821	.;MAP1B_HUMAN	K	2000	ENSP00000296755:T2000K	ENSP00000296755:T2000K	T	+	2	0	MAP1B	71530937	0.086000	0.21541	0.999000	0.59377	0.978000	0.69477	2.433000	0.44793	1.345000	0.45676	0.643000	0.83706	ACA	C|0.500;T|0.500		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71495181	C	A	71495181	3	1	4	1	0	0	0	0	1	0	0	0	9266	478	17	3	6017	3	MAP1B	5	71495181	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	2190	71495181	109420079	49	299											
HOMER1	9456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	78671991	78671991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctaagtcagacagttgtccCtccaggtctttgttccgaat	8	11	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:78671991C>G	ENST00000334082.6	-	9	2348	c.906G>C	c.(904-906)gaG>gaC	p.E302D	HOMER1_ENST00000282260.6_Missense_Mutation_p.E172D|HOMER1_ENST00000535690.1_Missense_Mutation_p.E128D|HOMER1_ENST00000508576.1_3'UTR	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	302					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ACAGTTGTCCCTCCAGGTCTT	0.368																																					p.L302L		.											.	HOMER1-90	0			c.C906C						.						127	117	120					5																	78671991		1831	4083	5914	SO:0001583	missense	9456	exon9			TTGTCCCTCCAGG	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.906G>C	5.37:g.78671991C>G	ENSP00000334382:p.Glu302Asp	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	88	20	NM_004272	0	0	0	0	0	B2R688|O96003|Q86YM5	Silent	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652355	0.47362	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	D;T;D	0.84660	-1.88;1.2;-1.88	5.7	0.161	0.14977	.	0.000000	0.85682	D	0.000000	D	0.88273	0.6392	L	0.61036	1.89	0.51482	D	0.999926	D;D;D	0.71674	0.998;0.974;0.998	P;D;D	0.72075	0.875;0.953;0.976	D	0.85194	0.1011	10	0.52906	T	0.07	-21.5359	8.4868	0.33076	0.0:0.2924:0.0:0.7076	.	128;172;302	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	D	302;172;128	ENSP00000334382:E302D;ENSP00000282260:E172D;ENSP00000441587:E128D	ENSP00000282260:E172D	E	-	3	2	HOMER1	78707747	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.476000	0.35420	0.069000	0.16605	0.591000	0.81541	GAG	.		0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		G	78671991	C	G	78671991	3	3	4	1	0	0	0	0	1	0	0	0	7305	680	24	3	162	3	HOMER1	5	78671991	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	7176810	78671991	102243269	50	300											
HSD17B4	3295	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	118844896	118844896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctctctttcttgttgGctctggaggctttggtggaa	12	8	4	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:118844896G>A	ENST00000256216.6	+	16	1527	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	HSD17B4_ENST00000509514.1_Missense_Mutation_p.G203D|HSD17B4_ENST00000504811.1_Missense_Mutation_p.G490D|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G328D|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G441D|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G325D|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G447D|HSD17B4_ENST00000522415.1_3'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	465	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTTCTTGTTGGCTCTGGAGGC	0.348																																					p.G490D	Colon(35;490 801 34689 41394 43344)	.											.	HSD17B4-92	0			c.G1469A						.						151	155	154					5																	118844896		2202	4300	6502	SO:0001583	missense	3295	exon17			TTGTTGGCTCTGG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1394G>A	5.37:g.118844896G>A	ENSP00000256216:p.Gly465Asp	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	50	4	NM_001199291	0	0	0	0	0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560059	0.86335	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	H	0.96805	3.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.998	D;D;P;D;D	0.91635	0.999;0.984;0.737;0.988;0.95	D	0.97374	0.9978	10	0.72032	D	0.01	-13.6078	18.535	0.91008	0.0:0.0:1.0:0.0	.	490;447;441;203;465	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	D	465;447;441;490;325;328;203	ENSP00000256216:G465D;ENSP00000424613:G447D;ENSP00000424940:G441D;ENSP00000420914:G490D;ENSP00000411960:G325D;ENSP00000425993:G328D;ENSP00000426272:G203D	ENSP00000256216:G465D	G	+	2	0	HSD17B4	118872795	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.217000	0.89766	2.464000	0.83262	0.561000	0.74099	GGC	.		0.348	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		A	118844896	G	A	118844896	3	1	4	1	0	0	0	0	1	0	0	0	7413	1203	42	3	1456	3	HSD17B4	5	118844896	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	40172905	118844896	62070364	51	301											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	4	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	13304788	132149684	48765576	52	302											
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140531553	140531553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctccgcgccctgcaccgAgctggtgccccgggcggccg	16	19	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:140531553A>G	ENST00000231136.1	+	1	1715	c.1715A>G	c.(1714-1716)gAg>gGg	p.E572G	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E436G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCACCGAGCTGGTGCCC	0.697																																					p.E572G		.											.	PCDHB6-91	0			c.A1715G						.						11	16	14					5																	140531553		2068	4158	6226	SO:0001583	missense	56130	exon1			GCACCGAGCTGGT	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.1715A>G	5.37:g.140531553A>G	ENSP00000231136:p.Glu572Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_018939	0	0	0	0	0	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.23|19.23	3.786671|3.786671	0.70337|0.70337	.|.	.|.	ENSG00000113211|ENSG00000113211	ENST00000543635;ENST00000231136|ENST00000542861	T;T|.	0.19532|.	2.14;2.14|.	4.19|4.19	4.19|4.19	0.49359|0.49359	Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.69079|0.69079	0.3071|0.3071	M|M	0.64080|0.64080	1.96|1.96	0.40260|0.40260	D|D	0.978166|0.978166	D|.	0.69078|.	0.997|.	P|.	0.62435|.	0.902|.	T|T	0.70212|0.70212	-0.4934|-0.4934	9|5	0.87932|.	D|.	0|.	.|.	13.2863|13.2863	0.60245|0.60245	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	572|.	Q9Y5E3|.	PCDB6_HUMAN|.	G|G	436;572|357	ENSP00000438466:E436G;ENSP00000231136:E572G|.	ENSP00000231136:E572G|.	E|S	+|+	2|1	0|0	PCDHB6|PCDHB6	140511737|140511737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.048000|6.048000	0.71046|0.71046	1.666000|1.666000	0.50821|0.50821	0.454000|0.454000	0.30748|0.30748	GAG|AGC	.		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		G	140531553	A	G	140531553	3	3	4	1	0	0	0	0	1	0	0	0	11585	304	11	4	1717	4	PCDHB6	5	140531553	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	8381869	140531553	40383707	53	303											
PCDHB11	56125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140579540	140579540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtcctcacggggggctCgggtggtctctaatgataag	14	9	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:140579540C>T	ENST00000354757.3	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGGGGGCTCGGGTGGTCTC	0.517																																					p.R65W		.											.	PCDHB11-96	0			c.C193T						.						88	101	96					5																	140579540		2203	4300	6503	SO:0001583	missense	56125	exon1			GGGGCTCGGGTGG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.193C>T	5.37:g.140579540C>T	ENSP00000346802:p.Arg65Trp	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	62	17	NM_018931	0	0	0	0	0	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822420	0.50739	.	.	ENSG00000197479	ENST00000354757	T	0.38887	1.11	2.8	0.651	0.17817	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.73976	0.3656	H	0.97918	4.105	0.09310	N	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.63079	-0.6717	9	0.87932	D	0	.	10.083	0.42401	0.4811:0.5189:0.0:0.0	.	65	Q9Y5F2	PCDBB_HUMAN	W	65	ENSP00000346802:R65W	ENSP00000346802:R65W	R	+	1	2	PCDHB11	140559724	0.001000	0.12720	0.001000	0.08648	0.108000	0.19459	1.738000	0.38207	0.479000	0.27511	0.467000	0.42956	CGG	.		0.517	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		T	140579540	C	T	140579540	3	4	4	1	0	0	0	0	1	0	0	0	11575	875	31	1	195	1	PCDHB11	5	140579540	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	47987	140579540	40335720	54	304											
PCDHGA5	56110	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140746167	140746167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagacctattcccacgaggTctccctcaccgcggactcga	9	17	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:140746167T>G	ENST00000518069.1	+	1	2270	c.2270T>G	c.(2269-2271)gTc>gGc	p.V757G	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACGAGGTCTCCCTCACC	0.602																																					p.V757G		.											.	PCDHGA5-35	0			c.T2270G						.						111	119	116					5																	140746167		2203	4300	6503	SO:0001583	missense	56110	exon1			ACGAGGTCTCCCT	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2270T>G	5.37:g.140746167T>G	ENSP00000429834:p.Val757Gly	Somatic	168	4		WXS	Illumina GAIIx	Phase_I	169	48	NM_032054	0	0	0	0	0	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.998501	0.74818	.	.	ENSG00000253485	ENST00000518069	T	0.54675	0.56	5.17	3.98	0.46160	.	.	.	.	.	T	0.78136	0.4236	H	0.95712	3.71	0.41284	D	0.986939	D;D	0.58620	0.982;0.983	D;D	0.68621	0.959;0.912	T	0.82719	-0.0318	9	0.87932	D	0	.	11.0924	0.48123	0.0:0.0749:0.0:0.9251	.	757;757	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	G	757	ENSP00000429834:V757G	ENSP00000429834:V757G	V	+	2	0	PCDHGA5	140726351	0.783000	0.28701	0.816000	0.32577	0.887000	0.51463	1.109000	0.31135	0.884000	0.36064	0.460000	0.39030	GTC	.		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		G	140746167	T	G	140746167	3	3	4	1	0	0	0	0	1	0	0	0	11596	1667	58	5	2272	5	PCDHGA5	5	140746167	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	166627	140746167	40169093	55	305											
COL23A1	91522	broad.mit.edu	37	chr5	177673297	177673297	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccaataaggcccggtggGccaactggcccctggataga	13	13	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:177673297G>T	ENST00000390654.3	-	24	1728	c.1371C>A	c.(1369-1371)ggC>ggA	p.G457G		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	457	Collagen-like 4.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGCCCGGTGGGCCAACTGGCC	0.552																																					p.G457G		.											.	COL23A1-91	0			c.C1371A						.						33	39	37					5																	177673297		1856	4055	5911	SO:0001819	synonymous_variant	91522	exon24			CGGTGGGCCAACT	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1371C>A	5.37:g.177673297G>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	112	4	NM_173465	0	0	0	0	0	Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	CCDS4436.1																																																																																			.		0.552	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177673297	G	T	177673297	2	4	4	1	0	0	0	0	0	0	0	1	3689	1190	42	3		3	COL23A1	5	177673297	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	36927130	177673297	3241963	56	306											
FLT4	2324	ucsc.edu;bcgsc.ca	37	chr5	180048131	180048131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccagcagcctctcGtctttgtaccacacgatgct	6	15	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr5:180048131G>T	ENST00000261937.6	-	14	2220	c.2142C>A	c.(2140-2142)gaC>gaA	p.D714E	FLT4_ENST00000393347.3_Missense_Mutation_p.D714E|FLT4_ENST00000502649.1_Missense_Mutation_p.D714E|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	714	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGCCTCTCGTCTTTGTACC	0.657																																					p.D714E	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.C2142A						.						29	30	29					5																	180048131		2200	4290	6490	SO:0001583	missense	2324	exon14			CCTCTCGTCTTTG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2142C>A	5.37:g.180048131G>T	ENSP00000261937:p.Asp714Glu	Somatic	200	3		WXS	Illumina GAIIx	Phase_I	290	71	NM_182925	0	0	0	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821293	0.71028	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.83591	-1.74;-1.74;-1.74	4.4	-5.16	0.02857	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88262	0.6389	M	0.68317	2.08	0.43545	D	0.995843	D;D;D;D	0.89917	1.0;0.999;0.99;0.99	D;D;D;D	0.97110	1.0;0.993;0.963;0.963	D	0.87239	0.2265	9	0.87932	D	0	.	15.6779	0.77341	0.7209:0.0:0.2791:0.0	.	714;524;714;714	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	E	714;714;714;524	ENSP00000261937:D714E;ENSP00000377016:D714E;ENSP00000426057:D714E	ENSP00000261937:D714E	D	-	3	2	FLT4	179980737	0.007000	0.16637	0.758000	0.31321	0.936000	0.57629	-1.024000	0.03603	-1.638000	0.01529	-0.448000	0.05591	GAC	.		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180048131	G	T	180048131	3	4	4	1	0	0	0	0	1	0	0	0	5966	1136	40	2	2025	2	FLT4	5	180048131	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2374834	180048131	867129	57	307											
RREB1	6239	hgsc.bcm.edu	37	chr6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcggcctgggcggggGccacaagggccgcaagccct	18	16	0	0	rs9502564	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000334984.6_Missense_Mutation_p.G783V|RREB1_ENST00000379933.3_Missense_Mutation_p.G783V|RREB1_ENST00000379938.2_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		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)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9	9	9		2348,2348,2348,2348	5.3	1	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	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.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001003700	0	0	0	0	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230680	G	T	7230680	3	4	4	1	0	0	0	0	1	0	0	0	13724	1203	42	3	2374	3	RREB1	6	7230680	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		7230680	163884387	58	308											
NEDD9	4739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	11185653	11185653	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtttgtgtgcactgaggatGacaaacttgctgtgtgccac	12	8	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:11185653G>T	ENST00000379446.5	-	7	2413	c.2247C>A	c.(2245-2247)gtC>gtA	p.V749V	NEDD9_ENST00000504387.1_Silent_p.V749V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	749	Divergent helix-loop-helix motif.				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)			CACTGAGGATGACAAACTTGC	0.532																																					p.V749V		.											.	NEDD9-226	0			c.C2247A						.						202	162	176					6																	11185653		2203	4300	6503	SO:0001819	synonymous_variant	4739	exon8			GAGGATGACAAAC	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.2247C>A	6.37:g.11185653G>T		Somatic	227	0		WXS	Illumina GAIIx	Phase_I	201	71	NM_001142393	0	0	0	0	0	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	CCDS4520.1																																																																																			.		0.532	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		T	11185653	G	T	11185653	2	4	4	1	0	0	0	0	0	0	0	1	10352	1277	45	3		3	NEDD9	6	11185653	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3954973	11185653	159929414	59	309											
TRIM39	56658	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	30303702	30303702	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgggacctggcccacttgGctgccgaggtggagggcaag	18	12	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:30303702G>C	ENST00000396547.1	+	4	890	c.730G>C	c.(730-732)Gct>Cct	p.A244P	TRIM39_ENST00000396548.1_Missense_Mutation_p.A244P|TRIM39_ENST00000376656.4_Missense_Mutation_p.A244P|TRIM39_ENST00000540416.1_Missense_Mutation_p.A244P|TRIM39_ENST00000376659.5_Missense_Mutation_p.A244P|TRIM39_ENST00000396551.3_Missense_Mutation_p.A244P|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.A156P			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	244					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						GGCCCACTTGGCTGCCGAGGT	0.577																																					p.A244P		.											.	TRIM39-161	0			c.G730C						.						79	68	72					6																	30303702		1508	2709	4217	SO:0001583	missense	56658	exon5			CACTTGGCTGCCG	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.730G>C	6.37:g.30303702G>C	ENSP00000379796:p.Ala244Pro	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	123	15	NM_021253	0	0	0	0	0	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.846748|3.846748	0.71603|0.71603	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.65732|.	3.55;0.09;3.55;-0.17;3.55;3.55;0.09;3.55|.	5.11|5.11	4.22|4.22	0.49857|0.49857	.|.	0.197600|.	0.35262|.	N|.	0.003332|.	T|T	0.51278|0.51278	0.1665|0.1665	L|L	0.58101|0.58101	1.795|1.795	0.37764|0.37764	D|D	0.926421|0.926421	D;P;B|.	0.64830|.	0.994;0.939;0.385|.	P;P;B|.	0.56960|.	0.81;0.616;0.3|.	T|T	0.50833|0.50833	-0.8781|-0.8781	10|5	0.72032|.	D|.	0.01|.	.|.	9.7486|9.7486	0.40462|0.40462	0.0964:0.0:0.9036:0.0|0.0964:0.0:0.9036:0.0	.|.	158;244;244|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	P|C	244;244;244;244;244;158;244;244;244;244;156|173	ENSP00000379800:A244P;ENSP00000365844:A244P;ENSP00000439400:A244P;ENSP00000406019:A244P;ENSP00000379797:A244P;ENSP00000365847:A244P;ENSP00000379796:A244P;ENSP00000424048:A156P|.	ENSP00000365844:A244P|.	A|W	+|+	1|3	0|0	TRIM39-RPP21;TRIM39|TRIM39	30411681|30411681	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	2.790000|2.790000	0.47821|0.47821	2.649000|2.649000	0.89929|0.89929	0.650000|0.650000	0.86243|0.86243	GCT|TGG	.		0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		C	30303702	G	C	30303702	3	2	4	1	0	0	0	0	1	0	0	0	16561	1203	42	3	740	3	TRIM39	6	30303702	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	19118049	30303702	140811365	60	310											
FKBPL	63943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32096557	32096557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctgcatcctggttcTtcccctgaatgaccaccttc	6	18	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:32096557T>A	ENST00000375156.3	-	2	1271	c.1001A>T	c.(1000-1002)aAg>aTg	p.K334M	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	334					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ATCCTGGTTCTTCCCCTGAAT	0.507																																					p.K334M		.											.	FKBPL-204	0			c.A1001T						.						174	184	181					6																	32096557		2203	4300	6503	SO:0001583	missense	63943	exon2			TGGTTCTTCCCCT	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.1001A>T	6.37:g.32096557T>A	ENSP00000364298:p.Lys334Met	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	213	40	NM_022110	0	0	0	0	0	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621766	0.66787	.	.	ENSG00000204315	ENST00000375156	T	0.75821	-0.97	5.75	1.99	0.26369	Tetratricopeptide-like helical (1);	0.144593	0.42964	D	0.000629	T	0.52208	0.1720	N	0.08118	0	0.32472	N	0.542659	D	0.71674	0.998	P	0.60789	0.879	T	0.58713	-0.7588	10	0.59425	D	0.04	-8.7637	7.4459	0.27211	0.0:0.3229:0.0:0.6771	.	334	Q9UIM3	FKBPL_HUMAN	M	334	ENSP00000364298:K334M	ENSP00000364298:K334M	K	-	2	0	FKBPL	32204535	0.729000	0.28090	0.997000	0.53966	0.828000	0.46876	0.349000	0.20055	0.425000	0.26087	0.459000	0.35465	AAG	.		0.507	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			A	32096557	T	A	32096557	3	1	4	1	0	0	0	0	1	0	0	0	5938	1609	56	5	52	5	FKBPL	6	32096557	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	1792855	32096557	139018510	61	311											
GLP1R	2740	bcgsc.ca	37	chr6	39033549	39033549	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgcagaaggacaacTccagcctgccctggagggac	13	13	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:39033549T>A	ENST00000373256.4	+	4	389	c.346T>A	c.(346-348)Tcc>Acc	p.S116T		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	116					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GAAGGACAACTCCAGCCTGCC	0.652																																					p.S116T		.											.	GLP1R-659	0			c.T346A						.						44	40	41					6																	39033549		2201	4299	6500	SO:0001583	missense	2740	exon4			GACAACTCCAGCC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.346T>A	6.37:g.39033549T>A	ENSP00000362353:p.Ser116Thr	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	203	6	NM_002062	0	0	0	0	0	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845266	0.32606	.	.	ENSG00000112164	ENST00000373256	T	0.49720	0.77	4.86	3.62	0.41486	GPCR, family 2, extracellular hormone receptor domain (3);	0.212975	0.33534	N	0.004804	T	0.21631	0.0521	L	0.49350	1.555	0.37078	D	0.89883	B	0.10296	0.003	B	0.10450	0.005	T	0.06899	-1.0801	10	0.20046	T	0.44	.	9.333	0.38034	0.0:0.0:0.1803:0.8197	.	116	P43220	GLP1R_HUMAN	T	116	ENSP00000362353:S116T	ENSP00000362353:S116T	S	+	1	0	GLP1R	39141527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	1.841000	0.53522	0.374000	0.22700	TCC	.		0.652	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			A	39033549	T	A	39033549	3	1	4	1	0	0	0	0	1	0	0	0	6478	1551	54	5	360	5	GLP1R	6	39033549	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	6936992	39033549	132081518	62	312											
LRFN2	57497	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	40399886	40399886	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggcggtcatcgggggctaCccagtggataagggggctgg	19	9	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:40399886C>G	ENST00000338305.6	-	2	1509	c.967G>C	c.(967-969)Gta>Cta	p.V323L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	323	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCGGGGGCTACCCAGTGGATA	0.587																																					p.V323L		.											.	LRFN2-93	0			c.G967C						.						42	41	41					6																	40399886		2203	4299	6502	SO:0001583	missense	57497	exon2			GGGCTACCCAGTG	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.967G>C	6.37:g.40399886C>G	ENSP00000345985:p.Val323Leu	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	75	6	NM_020737	0	0	0	0	0	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222658	0.58668	.	.	ENSG00000156564	ENST00000338305	T	0.73258	-0.73	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.113360	0.64402	D	0.000012	T	0.50120	0.1597	N	0.17248	0.465	0.80722	D	1	B	0.24618	0.107	B	0.35278	0.199	T	0.52487	-0.8569	10	0.38643	T	0.18	.	17.8027	0.88592	0.0:1.0:0.0:0.0	.	323	Q9ULH4	LRFN2_HUMAN	L	323	ENSP00000345985:V323L	ENSP00000345985:V323L	V	-	1	0	LRFN2	40507864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.734000	0.47368	2.555000	0.86185	0.655000	0.94253	GTA	.		0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		G	40399886	C	G	40399886	3	3	4	1	0	0	0	0	1	0	0	0	8973	507	18	3	1410	3	LRFN2	6	40399886	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	1366337	40399886	130715181	63	313											
PTCRA	171558	hgsc.bcm.edu	37	chr6	42893140	42893140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaaccaccacccgcctgcGagccctcggctcccatcgac	8	22	0	0	rs111782749	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:42893140G>A	ENST00000304672.1	+	4	647	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	PTCRA_ENST00000441198.1_Missense_Mutation_p.R164Q|PTCRA_ENST00000446507.1_Missense_Mutation_p.R82Q	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	189					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			ACCCGCCTGCGAGCCCTCGGC	0.711													G|||	35	0.00698882	0.0242	0.0043	5008	,	,		14178	0		0	False		,,,				2504	0				p.R204Q		.											.	PTCRA-92	0			c.G611A						.	G	GLN/ARG	63,4125		0,63,2031	10	8	9		566	-5.7	0	6	dbSNP_132	9	0,8100		0,0,4050	no	missense	PTCRA	NM_138296.2	43	0,63,6081	AA,AG,GG		0.0,1.5043,0.5127	possibly-damaging	189/282	42893140	63,12225	2094	4050	6144	SO:0001583	missense	171558	exon4			GCCTGCGAGCCCT	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.566G>A	6.37:g.42893140G>A	ENSP00000304447:p.Arg189Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	41	24	NM_001243168	0	0	0	0	0	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	9	0.004120879120879121	7	0.014227642276422764	2	0.0055248618784530384	0	0.0	0	0.0	G	13.10	2.135919	0.37728	0.015043	0.0	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507	T;T;T	0.55234	1.21;1.18;0.53	3.47	-5.72	0.02406	.	1.721110	0.04086	N	0.310576	T	0.10852	0.0265	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25521	0.0;0.017;0.128	B;B;B	0.12156	0.0;0.004;0.007	T	0.04005	-1.0985	10	0.39692	T	0.17	10.5378	1.3101	0.02096	0.4087:0.2741:0.1789:0.1383	.	82;164;189	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	Q	189;164;82	ENSP00000304447:R189Q;ENSP00000409550:R164Q;ENSP00000392288:R82Q	ENSP00000304447:R189Q	R	+	2	0	PTCRA	43001118	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.961000	0.03845	-1.300000	0.02341	-0.813000	0.03139	CGA	G|0.995;A|0.005		0.711	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		A	42893140	G	A	42893140	3	1	4	1	0	0	0	0	1	0	0	0	12777	1058	37	1	580	1	PTCRA	6	42893140	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2493254	42893140	128221927	64	314											
KLHDC3	116138	broad.mit.edu;bcgsc.ca	37	chr6	42985302	42985302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtgaagtctgccatccGtgggcaagctcctgtggtac	13	13	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:42985302G>A	ENST00000326974.4	+	3	395	c.200G>A	c.(199-201)cGt>cAt	p.R67H	KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	67					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTGCCATCCGTGGGCAAGCT	0.607																																					p.R67H		.											.	KLHDC3-91	0			c.G200A						.						73	64	67					6																	42985302		2203	4300	6503	SO:0001583	missense	116138	exon3			CCATCCGTGGGCA	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.200G>A	6.37:g.42985302G>A	ENSP00000313995:p.Arg67His	Somatic	203	1		WXS	Illumina GAIIx	Phase_I	258	13	NM_057161	0	0	0	0	0	A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248210	0.59103	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116	T	0.66460	-0.21	5.4	5.4	0.78164	Kelch-type beta propeller (1);	0.682753	0.15219	N	0.274037	T	0.52322	0.1727	L	0.47716	1.5	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.003;0.001	T	0.45731	-0.9241	10	0.44086	T	0.13	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	67;67	E7ENU0;Q9BQ90	.;KLDC3_HUMAN	H	67;67;67;40	ENSP00000313995:R67H	ENSP00000313995:R67H	R	+	2	0	KLHDC3	43093280	0.996000	0.38824	0.911000	0.35937	0.885000	0.51271	3.494000	0.53273	2.701000	0.92244	0.655000	0.94253	CGT	.		0.607	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		A	42985302	G	A	42985302	3	1	4	1	0	0	0	0	1	0	0	0	8384	1145	40	1	206	1	KLHDC3	6	42985302	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	92162	42985302	128129765	65	315											
PGK2	5232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49754247	49754247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgataagttggatcttgtcTgccactttggctccaccaag	9	10	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:49754247T>C	ENST00000304801.3	-	1	806	c.654A>G	c.(652-654)gcA>gcG	p.A218A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	218					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGATCTTGTCTGCCACTTTGG	0.418																																					p.A218A		.											.	PGK2-91	0			c.A654G						.						138	129	132					6																	49754247		2203	4300	6503	SO:0001819	synonymous_variant	5232	exon1			CTTGTCTGCCACT	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.654A>G	6.37:g.49754247T>C		Somatic	241	0		WXS	Illumina GAIIx	Phase_I	356	71	NM_138733	0	0	0	0	0	B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	CCDS4930.1																																																																																			.		0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			C	49754247	T	C	49754247	2	2	4	1	0	0	0	0	0	0	0	1	11830	1567	55	4		4	PGK2	6	49754247	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	6768945	49754247	121360820	66	316											
HMGCLL1	54511	broad.mit.edu	37	chr6	55300530	55300530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctttgcaaataaagtcaCcagcttccatcactttgtat	5	11	2	0	rs373467937		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:55300530C>A	ENST00000398661.2	-	10	1174	c.1043G>T	c.(1042-1044)gGt>gTt	p.G348V	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G152V|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G318V|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G215V|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G286V|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	348					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATAAAGTCACCAGCTTCCAT	0.393																																					p.G348V	Ovarian(35;840 893 7837 15538 42887)	.											.	HMGCLL1-94	0			c.G1043T						.	C	VAL/GLY,VAL/GLY	1,3699		0,1,1849	122	121	121		953,1043	5.4	1	6		121	0,8166		0,0,4083	no	missense,missense	HMGCLL1	NM_001042406.1,NM_019036.2	109,109	0,1,5932	AA,AC,CC		0.0,0.027,0.0084	probably-damaging,probably-damaging	318/341,348/371	55300530	1,11865	1850	4083	5933	SO:0001583	missense	54511	exon10			AAGTCACCAGCTT	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.1043G>T	6.37:g.55300530C>A	ENSP00000381654:p.Gly348Val	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	126	3	NM_019036	0	0	0	0	0	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479565	0.84747	2.7E-4	0.0	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98280	-4.84;-4.84;-4.51;-4.84;-4.84	5.36	5.36	0.76844	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.93328	3.405	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;1.0;0.99;0.999;0.999	D	0.99136	1.0854	10	0.87932	D	0	-23.1639	19.0955	0.93249	0.0:1.0:0.0:0.0	.	152;215;286;318;348	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	V	318;348;215;152;286	ENSP00000274901:G318V;ENSP00000381654:G348V;ENSP00000359887:G215V;ENSP00000424309:G152V;ENSP00000309737:G286V	ENSP00000274901:G318V	G	-	2	0	HMGCLL1	55408489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.511000	0.84671	0.655000	0.94253	GGT	.		0.393	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		A	55300530	C	A	55300530	3	1	4	1	0	0	0	0	1	0	0	0	7257	507	18	3	73	3	HMGCLL1	6	55300530	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5546283	55300530	115814537	67	317											
DST	667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	56434803	56434805	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttgacaagaagttacagCttcttttctacataacaaaa							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:56434803_56434805delCTT	ENST00000361203.3	-	50	13101_13103	c.13094_13096delAAG	c.(13093-13098)gaagct>gct	p.E4365del	DST_ENST00000421834.2_In_Frame_Del_p.E2279del|DST_ENST00000370788.2_In_Frame_Del_p.E2279del|DST_ENST00000446842.2_In_Frame_Del_p.E4041del|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_In_Frame_Del_p.E4367del|DST_ENST00000370754.5_In_Frame_Del_p.E4545del|DST_ENST00000244364.6_In_Frame_Del_p.E1953del			Q03001	DYST_HUMAN	dystonin	4365					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)			GAAGTTACAGCTTCTTTTCTACA	0.296																																					p.1953_1954del		.											.	DST-523	0			c.5858_5860del						.																																			SO:0001651	inframe_deletion	667	exon35			TTACAGCTTCTTT	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.13094_13096delAAG	6.37:g.56434806_56434808delCTT	ENSP00000354508:p.Glu4365del	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	36	11	NM_015548	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000361203.3	37																																																																																				.		0.296	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		-	56434805	CTT	-	56434803	7	5	4	1	0	1	0	1	0	0	0	0	4797	797	28	0	9855	0	DST	6	56434803	In_Frame_Del	DEL	CTT	TCGA-OR-A5J4-01A-11D-A29I-10	1134273	56434803	114680264	68	318											
FILIP1	27145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	76022190	76022190	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtcactttgcttgcaccagGccgtgaggagaggtgattcc	13	11	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:76022190G>C	ENST00000237172.7	-	5	3688	c.3358C>G	c.(3358-3360)Cct>Gct	p.P1120A	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.P1021A|FILIP1_ENST00000393004.2_Missense_Mutation_p.P1120A	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1120										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTGCACCAGGCCGTGAGGAG	0.542																																					p.P1120A		.											.	FILIP1-94	0			c.C3358G						.						210	165	180					6																	76022190		2203	4300	6503	SO:0001583	missense	27145	exon5			CACCAGGCCGTGA	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3358C>G	6.37:g.76022190G>C	ENSP00000237172:p.Pro1120Ala	Somatic	302	0		WXS	Illumina GAIIx	Phase_I	435	83	NM_015687	0	0	0	0	0	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985236	0.18889	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17528	2.28;2.27;2.27	5.76	5.76	0.90799	.	0.099239	0.64402	D	0.000001	T	0.10208	0.0250	L	0.51422	1.61	0.43808	D	0.996367	B;P;P	0.38370	0.013;0.495;0.628	B;B;B	0.34489	0.002;0.119;0.184	T	0.09862	-1.0655	10	0.22706	T	0.39	-12.5256	19.9705	0.97284	0.0:0.0:1.0:0.0	.	1120;1120;1120	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	A	1120;1120;1021	ENSP00000376728:P1120A;ENSP00000237172:P1120A;ENSP00000359037:P1021A	ENSP00000237172:P1120A	P	-	1	0	FILIP1	76078910	0.992000	0.36948	0.936000	0.37596	0.105000	0.19272	2.044000	0.41241	2.728000	0.93425	0.655000	0.94253	CCT	.		0.542	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		C	76022190	G	C	76022190	3	2	4	1	0	0	0	0	1	0	0	0	5916	1203	42	3	291	3	FILIP1	6	76022190	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	19587387	76022190	95092877	69	319											
BACH2	60468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	90660029	90660030	+	Missense_Mutation	DNP	GC	GC	AT													caggacacgactcactgtctGcttccgagaacgatccggat							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:90660029_90660030GC>AT	ENST00000257749.4	-	7	2502_2503	c.1795_1796GC>AT	c.(1795-1797)GCa>ATa	p.A599I	BACH2_ENST00000537989.1_Missense_Mutation_p.A599I|BACH2_ENST00000343122.3_Missense_Mutation_p.A599I|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	599						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTCACTGTCTGCTTCCGAGAAC	0.515																																					p.A599I		.											.	BACH2-231	0			c.G1795A						.																																			SO:0001583	missense	60468	exon7			TGTCTGCTTCCGA	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1795_1796delinsAT	6.37:g.90660029_90660030delinsAT	ENSP00000257749:p.Ala599Ile	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	241	0	NM_021813	0	0	0	0	0	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	DNP	ENST00000257749.4	37	CCDS5026.1																																																																																			.		0.515	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		AT	90660030	GC	AT	90660029	3	1	4	1	0	0	0	0	1	0	0	0	1285	1319	46	3	741	3	BACH2	6	90660029	Missense_Mutation	DNP	GC	TCGA-OR-A5J4-01A-11D-A29I-10	14637839	90660029	80455038	70	320											
HACE1	57531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	105219214	105219214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatccattgcaaattttTcgcatattctggatcaatgg	6	7	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:105219214T>G	ENST00000262903.4	-	19	2341	c.2065A>C	c.(2065-2067)Aaa>Caa	p.K689Q	HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	689	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGCAAATTTTTCGCATATTCT	0.368																																					p.K689Q		.											.	HACE1-663	0			c.A2065C						.						75	75	75					6																	105219214		2203	4300	6503	SO:0001583	missense	57531	exon19			AATTTTTCGCATA	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2065A>C	6.37:g.105219214T>G	ENSP00000262903:p.Lys689Gln	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	89	36	NM_020771	0	0	0	0	0	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.20|16.20	3.056607|3.056607	0.55325|0.55325	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503;ENST00000518402|ENST00000262903	.|T	.|0.58060	.|0.36	5.53|5.53	5.53|5.53	0.82687|0.82687	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51193|0.51193	0.1660|0.1660	N|N	0.25825|0.25825	0.765|0.765	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.476;0.999;0.999	.|B;D;D	.|0.87578	.|0.158;0.998;0.961	T|T	0.54840|0.54840	-0.8233|-0.8233	5|10	.|0.40728	.|T	.|0.16	.|.	15.6565|15.6565	0.77140|0.77140	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|178;689;342	.|B4DFM6;Q8IYU2;Q8IYU2-3	.|.;HACE1_HUMAN;.	A|Q	171;123|689	.|ENSP00000262903:K689Q	.|ENSP00000262903:K689Q	E|K	-|-	2|1	0|0	HACE1|HACE1	105325907|105325907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.676000|7.676000	0.84012|0.84012	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	GAA|AAA	.		0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		G	105219214	T	G	105219214	3	3	4	1	0	0	0	0	1	0	0	0	6967	1792	62	5	688	5	HACE1	6	105219214	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	14559185	105219214	65895853	71	321											
RSPO3	84870	broad.mit.edu	37	chr6	127516969	127516969	+	Splice_Site	DEL	A	A	-													gagtatcctttcatttcaggAaaaaaaggaagggagaggaa							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:127516969delA	ENST00000356698.4	+	5	1225	c.636delA	c.(634-636)gga>gg	p.G212fs	RSPO3_ENST00000368317.3_Splice_Site_p.G212fs	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	212					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TCATTTCaggaaaaaaaggaa	0.274																																					p.G212fs		.											.	RSPO3-90	0			c.636delA						.						31	30	30					6																	127516969		2192	4276	6468	SO:0001630	splice_region_variant	84870	exon5			TTCAGGAAAAAAA	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.635-1A>-	6.37:g.127516969delA		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	5	2	NM_032784	0	0	0	0	0	B2RC27|Q5VTV4|Q96K87	Frame_Shift_Del	DEL	ENST00000356698.4	37	CCDS5135.1																																																																																			.		0.274	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	Frame_Shift_Del	-	127516969	A	-	127516969	8	5	4	1	0	1	0	1	0	0	1	0	13756	260	9	0	654	0	RSPO3	6	127516969	Splice_Site	DEL	A	TCGA-OR-A5J4-01A-11D-A29I-10	22297755	127516969	43598098	72	322											
AHI1	54806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	135726087	135726087	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaataaaaactacttActtttgcagcacaggaacgt	7	9	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:135726087A>C	ENST00000367800.4	-	20	3205		c.e20+1		AHI1_ENST00000457866.2_Splice_Site|AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000417892.2_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1						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)		AAAACTACTTACTTTTGCAGC	0.323																																					.		.											.	AHI1-227	0			c.2988+2T>G						.						90	86	87					6																	135726087		1825	4082	5907	SO:0001630	splice_region_variant	54806	exon21			CTACTTACTTTTG	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.2988+1T>G	6.37:g.135726087A>C		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	49	14	NM_001134830	0	0	0	0	0	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758882	0.49468	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000367799;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000529865	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6707	0.40011	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AHI1	135767780	0.996000	0.38824	0.999000	0.59377	0.782000	0.44232	3.331000	0.52075	2.056000	0.61249	0.533000	0.62120	.	.		0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Intron	C	135726087	A	C	135726087	5	2	4	1	0	0	0	0	0	0	1	0	413	405	14	5	689	5	AHI1	6	135726087	Splice_Site	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	8209118	135726087	35388980	73	323											
MAP3K4	4216	broad.mit.edu;bcgsc.ca	37	chr6	161527654	161527654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatatcattggtcaagtttGtgatacgcctaagtcctatg	9	7	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr6:161527654G>A	ENST00000392142.4	+	20	4113	c.3965G>A	c.(3964-3966)tGt>tAt	p.C1322Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.C1268Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.C1272Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.C1318Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1322					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTCAAGTTTGTGATACGCCT	0.398																																					p.C1322Y		.											.	MAP3K4-548	0			c.G3965A						.						173	158	163					6																	161527654		2203	4300	6503	SO:0001583	missense	4216	exon20			AAGTTTGTGATAC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3965G>A	6.37:g.161527654G>A	ENSP00000375986:p.Cys1322Tyr	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	176	8	NM_005922	0	0	0	0	0	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422804	0.83559	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71222	-0.51;-0.54;-0.55;-0.5	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.71674	0.989;0.958;0.998;0.998	D;P;D;D	0.80764	0.915;0.51;0.994;0.992	T	0.75175	-0.3410	10	0.54805	T	0.06	-16.0942	17.9942	0.89177	0.0:0.0:1.0:0.0	.	1318;258;1272;1322	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Y	1272;1322;1272;1318;1268	ENSP00000355886:C1272Y;ENSP00000375986:C1322Y;ENSP00000355887:C1318Y;ENSP00000297332:C1268Y	ENSP00000297332:C1268Y	C	+	2	0	MAP3K4	161447644	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.223000	0.72356	0.585000	0.79938	TGT	.		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			A	161527654	G	A	161527654	3	1	4	1	0	0	0	0	1	0	0	0	9290	1377	48	3	4043	3	MAP3K4	6	161527654	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	25801567	161527654	9587413	74	324											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5410916	5410916	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtccgcgtcggcggcGgccgtgggctgcagcaggaa	18	13	0	0	rs10215902	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:5410916G>C	ENST00000430969.1	-	11	3657	c.3309C>G	c.(3307-3309)gcC>gcG	p.A1103A	TNRC18_ENST00000399537.4_Silent_p.A1103A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1103	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTCGGCGGCGGCCGTGGGCT	0.692													C|||	622	0.124201	0.2723	0.0288	5008	,	,		13291	0.0476		0.0606	False		,,,				2504	0.136				p.A1103A		.											.	TNRC18-46	0			c.C3309G						.	C		626,3208		50,526,1341	11	13	12		3309	-8.3	0	7	dbSNP_119	12	384,7814		14,356,3729	no	coding-synonymous	TNRC18	NM_001080495.2		64,882,5070	CC,CG,GG		4.6841,16.3276,8.3943		1103/2969	5410916	1010,11022	1917	4099	6016	SO:0001819	synonymous_variant	84629	exon11			GGCGGCGGCCGTG	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.3309C>G	7.37:g.5410916G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.900;C|0.100		0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	5410916	G	C	5410916	2	2	4	1	0	0	0	0	0	0	0	1	16386	1103	39	2		2	TNRC18	7	5410916	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		5410916	153727747	75	325											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5427517	5427517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcagctgccggccgccGcccgctgcagggcctccgga	14	19	1	0	rs34693947	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:5427517G>A	ENST00000430969.1	-	5	2286	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	TNRC18_ENST00000399537.4_Silent_p.G646G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	646							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)		GCCGGCCGCCGCCCGCTGCAG	0.716													G|||	998	0.199281	0.0552	0.0908	5008	,	,		13710	0.6597		0.0437	False		,,,				2504	0.1564				p.G646G		.											.	TNRC18-46	0			c.C1938T						.	G		141,3189		2,137,1526	4	6	5		1938	-5.6	0	7	dbSNP_126	5	219,7185		3,213,3486	no	coding-synonymous	TNRC18	NM_001080495.2		5,350,5012	AA,AG,GG		2.9579,4.2342,3.3538		646/2969	5427517	360,10374	1665	3702	5367	SO:0001819	synonymous_variant	84629	exon5			GCCGCCGCCCGCT	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.1938C>T	7.37:g.5427517G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			G|0.797;A|0.203		0.716	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5427517	G	A	5427517	2	1	4	1	0	0	0	0	0	0	0	1	16386	1074	38	1		1	TNRC18	7	5427517	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	16601	5427517	153711146	76	326											
GARS	2617	hgsc.bcm.edu	37	chr7	30634630	30634630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagcccgaccctcgctcctGctccgccggtccctcagcgc	9	21	1	0	rs2529438	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:30634630G>C	ENST00000389266.3	+	1	334	c.93G>C	c.(91-93)ctG>ctC	p.L31L	AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	31					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)	CCTCGCTCCTGCTCCGCCGGT	0.741													G|||	705	0.140775	0.1218	0.0994	5008	,	,		12290	0.1776		0.0726	False		,,,				2504	0.228				p.L31L		.											.	GARS-91	0			c.G93C						.	G		360,3594		14,332,1631	6	8	7		93	2.7	0	7	dbSNP_100	7	669,7413		24,621,3396	no	coding-synonymous	GARS	NM_002047.2		38,953,5027	CC,CG,GG		8.2777,9.1047,8.5494		31/740	30634630	1029,11007	1977	4041	6018	SO:0001819	synonymous_variant	2617	exon1			GCTCCTGCTCCGC	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.93G>C	7.37:g.30634630G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			G|0.889;C|0.111		0.741	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		C	30634630	G	C	30634630	2	2	4	1	0	0	0	0	0	0	0	1	6267	1306	46	3		3	GARS	7	30634630	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	25207113	30634630	128504033	77	327											
OGDH	4967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44714133	44714133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagaatggcgtggactaCgtgatcatgggcatgccaca	14	8	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:44714133C>T	ENST00000222673.5	+	7	954	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_ENST00000543843.1_Silent_p.Y255Y|OGDH_ENST00000447398.1_Silent_p.Y315Y|OGDH_ENST00000443864.2_Silent_p.Y304Y|OGDH_ENST00000449767.1_Silent_p.Y300Y|OGDH_ENST00000439616.2_Silent_p.Y154Y|OGDH_ENST00000444676.1_Silent_p.Y319Y|OGDH_ENST00000459672.1_3'UTR	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	304					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)	GCGTGGACTACGTGATCATGG	0.562																																					p.Y304Y		.											.	OGDH-228	0			c.C912T						.						129	104	112					7																	44714133		2203	4300	6503	SO:0001819	synonymous_variant	4967	exon7			GGACTACGTGATC	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.912C>T	7.37:g.44714133C>T		Somatic	279	0		WXS	Illumina GAIIx	Phase_I	172	63	NM_002541	0	0	0	0	0	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			.		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44714133	C	T	44714133	2	4	4	1	0	0	0	0	0	0	0	1	10878	547	19	1		1	OGDH	7	44714133	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	14079503	44714133	114424530	78	328											
ASB4	51666	broad.mit.edu;bcgsc.ca	37	chr7	95157438	95157438	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggaactgtgaccacgtgctCatgcacatgatgctggaagc	12	10	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:95157438C>G	ENST00000325885.5	+	3	872	c.801C>G	c.(799-801)ctC>ctG	p.L267L	ASB4_ENST00000428113.1_Silent_p.L267L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	267					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCACGTGCTCATGCACATGA	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L267L		.											.	ASB4-226	0			c.C801G						.						82	66	72					7																	95157438		2203	4300	6503	SO:0001819	synonymous_variant	51666	exon3			CGTGCTCATGCAC	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.801C>G	7.37:g.95157438C>G		Somatic	194	0	1310	WXS	Illumina GAIIx	Phase_I	212	10	NM_016116	0	0	0	0	0	A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	CCDS5641.1																																																																																			C|1.000;T|0.000		0.562	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		G	95157438	C	G	95157438	2	3	4	1	0	0	0	0	0	0	0	1	1026	813	29	3		3	ASB4	7	95157438	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	50443305	95157438	63981225	79	329											
PARP12	64761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139737565	139737565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggaacttcaaggtgGctgcctggccgtcagacccc	13	15	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:139737565G>A	ENST00000263549.3	-	7	2147	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	425	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTTCAAGGTGGCTGCCTGGCC	0.607																																					p.A425V		.											.	PARP12-525	0			c.C1274T						.						101	76	84					7																	139737565		2203	4300	6503	SO:0001583	missense	64761	exon7			AAGGTGGCTGCCT	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1274C>T	7.37:g.139737565G>A	ENSP00000263549:p.Ala425Val	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	68	49	NM_022750	0	0	0	0	0	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247213	0.59103	.	.	ENSG00000059378	ENST00000263549	T	0.30448	1.53	5.7	5.7	0.88788	WWE domain (1);	0.480144	0.23209	N	0.050690	T	0.39627	0.1085	M	0.78637	2.42	0.18873	N	0.999981	B	0.24533	0.105	B	0.23275	0.045	T	0.23940	-1.0174	10	0.32370	T	0.25	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	425	Q9H0J9	PAR12_HUMAN	V	425	ENSP00000263549:A425V	ENSP00000263549:A425V	A	-	2	0	PARP12	139384034	0.294000	0.24380	0.056000	0.19401	0.765000	0.43378	4.927000	0.63440	2.695000	0.91970	0.561000	0.74099	GCC	.		0.607	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		A	139737565	G	A	139737565	3	1	4	1	0	0	0	0	1	0	0	0	11496	1203	42	3	855	3	PARP12	7	139737565	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	44580127	139737565	19401098	80	330											
NOS3	4846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150698393	150698393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctggagaatgagcagaaGgccagggggggctgccctgc	17	11	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:150698393G>T	ENST00000484524.1	+	10	1308	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	NOS3_ENST00000461406.1_Missense_Mutation_p.K230N|NOS3_ENST00000297494.3_Missense_Mutation_p.K436N|NOS3_ENST00000467517.1_Missense_Mutation_p.K436N	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)		ATGAGCAGAAGGCCAGGGGGG	0.607																																					p.K436N		.											.	NOS3-1011	0			c.G1308T						.						62	64	63					7																	150698393		2203	4300	6503	SO:0001583	missense	4846	exon10			GCAGAAGGCCAGG		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.1308G>T	7.37:g.150698393G>T	ENSP00000420215:p.Lys436Asn	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_001160111	0	0	0	0	0	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701900	0.48307	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.13	4.24	0.50183	Nitric oxide synthase, oxygenase domain (2);	0.095197	0.38959	N	0.001501	T	0.36193	0.0958	M	0.62209	1.925	0.42790	D	0.993898	B;B;P;B;B	0.37158	0.031;0.031;0.585;0.076;0.293	B;B;B;B;B	0.43916	0.037;0.059;0.436;0.07;0.059	T	0.25222	-1.0138	10	0.87932	D	0	-14.6207	7.8491	0.29444	0.1876:0.0:0.8124:0.0	.	436;436;436;230;436	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	N	436;230;436;436	ENSP00000297494:K436N;ENSP00000417143:K230N;ENSP00000420215:K436N;ENSP00000420551:K436N	ENSP00000297494:K436N	K	+	3	2	NOS3	150329326	0.282000	0.24268	1.000000	0.80357	0.987000	0.75469	0.409000	0.21082	1.140000	0.42260	0.561000	0.74099	AAG	.		0.607	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		T	150698393	G	T	150698393	3	4	4	1	0	0	0	0	1	0	0	0	10583	991	35	3	1346	3	NOS3	7	150698393	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	10960828	150698393	8440270	81	331											
MLL3	58508	bcgsc.ca	37	chr7	151932990	151932990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcacctcgaggtctcCgctttcctggaaatccagac	9	15	1	1	rs76844681		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGAGGTCTCCGCTTTCCTGG	0.502																																					p.R894Q		.											.	MLL3-1398	0			c.G2681A						.						33	34	33					7																	151932990		2202	4295	6497	SO:0001583	missense	58508	exon16			GGTCTCCGCTTTC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	103	12	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG	C|0.999;T|0.001		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151932990	C	T	151932990	3	4	4	1	0	0	0	0	1	0	0	0	9660	652	23	1	12230	1	MLL3	7	151932990	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	1234597	151932990	7205673	82	332											
HTR5A	3361	broad.mit.edu	37	chr7	154862947	154862947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctaggtcggaggcTgtgccagctttggatcgcgt	16	10	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr7:154862947T>G	ENST00000287907.2	+	1	914	c.338T>G	c.(337-339)cTg>cGg	p.L113R	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S23R|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.S23R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	113					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)	GGTCGGAGGCTGTGCCAGCTT	0.672																																					p.L113R		.											.	HTR5A-155	0			c.T338G						.						55	45	48					7																	154862947		2203	4300	6503	SO:0001583	missense	3361	exon1			GGAGGCTGTGCCA		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.338T>G	7.37:g.154862947T>G	ENSP00000287907:p.Leu113Arg	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	17	2	NM_024012	0	0	0	0	0	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.141596|4.141596	0.77775|0.77775	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.42513|.	0.97|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72953|0.72953	0.3525|0.3525	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.11235	1.0|0.004	D|B	0.97110|0.13407	1.0|0.009	T|T	0.75545|0.75545	-0.3280|-0.3280	10|8	0.87932|0.87932	D|D	0|0	.|.	14.0258|14.0258	0.64584|0.64584	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	113|23	P47898|B7Z8E6	5HT5A_HUMAN|.	R|R	113|23	ENSP00000287907:L113R|.	ENSP00000287907:L113R|ENSP00000379080:S23R	L|S	+|-	2|1	0|0	HTR5A|AC093726.4	154493880|154493880	0.998000|0.998000	0.40836|0.40836	0.983000|0.983000	0.44433|0.44433	0.753000|0.753000	0.42808|0.42808	7.523000|7.523000	0.81856|0.81856	1.896000|1.896000	0.54893|0.54893	0.460000|0.460000	0.39030|0.39030	CTG|AGC	.		0.672	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		G	154862947	T	G	154862947	3	3	4	1	0	0	0	0	1	0	0	0	7477	1580	55	5	340	5	HTR5A	7	154862947	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	2929957	154862947	4275716	83	333											
SLC20A2	6575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	42294695	42294695	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acgccgccctcctccgcctcGatctccgcctctgccaccgc	7	24	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:42294695G>C	ENST00000342228.3	-	8	1704	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	SLC20A2_ENST00000520179.1_Missense_Mutation_p.I445M|SLC20A2_ENST00000520262.1_Missense_Mutation_p.I445M	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	445					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)			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)			CCTCCGCCTCGATCTCCGCCT	0.642																																					p.I445M		.											.	SLC20A2-92	0			c.C1335G						.						63	57	59					8																	42294695		2203	4299	6502	SO:0001583	missense	6575	exon8			CGCCTCGATCTCC		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.1335C>G	8.37:g.42294695G>C	ENSP00000340465:p.Ile445Met	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	104	17	NM_001257181	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701439	0.48307	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90732	-2.72;-2.72;-2.72	5.73	-4.42	0.03579	.	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	L	0.56769	1.78	0.52501	D	0.999954	D	0.76494	0.999	D	0.72338	0.977	D	0.86412	0.1749	10	0.38643	T	0.18	-33.4398	6.8325	0.23917	0.204:0.0:0.2337:0.5623	.	445	Q08357	S20A2_HUMAN	M	445	ENSP00000340465:I445M;ENSP00000429754:I445M;ENSP00000429712:I445M	ENSP00000340465:I445M	I	-	3	3	SLC20A2	42413852	0.014000	0.17966	0.977000	0.42913	0.483000	0.33249	-0.876000	0.04201	-0.603000	0.05767	0.585000	0.79938	ATC	.		0.642	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			C	42294695	G	C	42294695	3	2	4	1	0	0	0	0	1	0	0	0	14484	1048	37	2	639	2	SLC20A2	8	42294695	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		42294695	104069327	84	334											
CRH	1392	hgsc.bcm.edu	37	chr8	67089425	67089425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcggctgccgctgccTccggcgaggagcgaggaggc	20	12	0	0	rs6159	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:67089425T>G	ENST00000276571.3	-	2	734	c.288A>C	c.(286-288)ggA>ggC	p.G96G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	96					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCCGCTGCCTCCGGCGAGGA	0.701											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1938	0.386981	0.7557	0.3646	5008	,	,		12753	0.3433		0.1392	False		,,,				2504	0.2045				p.G96G		.											.	CRH-90	0			c.A288C						.	G		1011,1897		182,647,625	2	3	3		288	-2.7	0	8	dbSNP_52	3	578,6556		47,484,3036	no	coding-synonymous	CRH	NM_000756.2		229,1131,3661	GG,GT,TT		8.102,34.7662,15.8235		96/197	67089425	1589,8453	1454	3567	5021	SO:0001819	synonymous_variant	1392	exon2			GCTGCCTCCGGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.288A>C	8.37:g.67089425T>G		Somatic	3	0	1096	WXS	Illumina GAIIx	Phase_I	18	4	NM_000756	0	0	0	0	0	B3KQS4	Silent	SNP	ENST00000276571.3	37	CCDS6188.1																																																																																			T|0.642;G|0.358		0.701	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		G	67089425	T	G	67089425	2	3	4	1	0	0	0	0	0	0	0	1	3876	1538	54	5		5	CRH	8	67089425	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	24794730	67089425	79274597	85	335											
ZNF704	619279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	81553604	81553604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcctgggggtctctcaGtcgaggaacctctggcaggc	14	13	4	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:81553604G>A	ENST00000327835.3	-	9	1467	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	412							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGGTCTCTCAGTCGAGGAACC	0.602																																					p.D412D		.											.	ZNF704-90	0			c.C1236T						.						48	40	43					8																	81553604		2203	4300	6503	SO:0001819	synonymous_variant	619279	exon9			CTCTCAGTCGAGG	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1236C>T	8.37:g.81553604G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	118	27	NM_001033723	0	0	0	0	0	B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	CCDS34913.1																																																																																			.		0.602	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		A	81553604	G	A	81553604	2	1	4	1	0	0	0	0	0	0	0	1	18155	1020	36	3		3	ZNF704	8	81553604	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	14464179	81553604	64810418	86	336											
CHMP4C	92421	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	82670423	82670423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggaacaggaggaattaaAtaagaagatgacaaatatcc	9	4	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:82670423A>G	ENST00000297265.4	+	4	723	c.530A>G	c.(529-531)aAt>aGt	p.N177S		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	177	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						GAGGAATTAAATAAGAAGATG	0.438																																					p.N177S		.											.	CHMP4C-92	0			c.A530G						.						110	107	108					8																	82670423		2203	4300	6503	SO:0001583	missense	92421	exon4			AATTAAATAAGAA	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.530A>G	8.37:g.82670423A>G	ENSP00000297265:p.Asn177Ser	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	177	39	NM_152284	0	0	0	0	0	B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288571	0.59976	.	.	ENSG00000164695	ENST00000297265	T	0.72505	-0.66	6.17	6.17	0.99709	.	0.087405	0.85682	D	0.000000	T	0.68778	0.3038	L	0.54323	1.7	0.54753	D	0.999986	B	0.25719	0.132	B	0.25987	0.065	T	0.65207	-0.6224	10	0.45353	T	0.12	-31.0278	16.8222	0.85835	1.0:0.0:0.0:0.0	.	177	Q96CF2	CHM4C_HUMAN	S	177	ENSP00000297265:N177S	ENSP00000297265:N177S	N	+	2	0	CHMP4C	82832978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.997000	0.93544	2.371000	0.80710	0.533000	0.62120	AAT	.		0.438	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		G	82670423	A	G	82670423	3	3	4	1	0	0	0	0	1	0	0	0	3365	101	4	4	544	4	CHMP4C	8	82670423	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	1116819	82670423	63693599	87	337											
MTSS1	9788	broad.mit.edu	37	chr8	125568471	125568471	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgagaacaagagcatcAccctggtggcagccgataca	10	12	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:125568471A>C	ENST00000518547.1	-	12	1878		c.e12+1		MTSS1_ENST00000395508.2_Splice_Site|MTSS1_ENST00000354184.4_Splice_Site|MTSS1_ENST00000431961.2_Splice_Site|MTSS1_ENST00000524090.1_Splice_Site|MTSS1_ENST00000523587.1_Splice_Site|MTSS1_ENST00000325064.5_Splice_Site|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Splice_Site	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAAGAGCATCACCCTGGTGGC	0.647																																					.	Esophageal Squamous(160;622 1893 3862 8546 12509)	.											.	MTSS1-91	0			c.1404+2T>G						.						74	63	67					8																	125568471		2203	4300	6503	SO:0001630	splice_region_variant	9788	exon13			AGCATCACCCTGG	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.1404+1T>G	8.37:g.125568471A>C		Somatic	106	6		WXS	Illumina GAIIx	Phase_I	100	11	NM_014751	0	0	0	0	0	J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248298	0.59103	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000519168;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000523179	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0885	0.64975	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTSS1	125637652	1.000000	0.71417	0.965000	0.40720	0.918000	0.54935	7.603000	0.82811	1.733000	0.51620	0.374000	0.22700	.	.		0.647	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Intron	C	125568471	A	C	125568471	5	2	4	1	0	0	0	0	0	0	1	0	10000	173	6	5	873	5	MTSS1	8	125568471	Splice_Site	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	42898048	125568471	20795551	88	338											
FLJ43860	389690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	142506432	142506432	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcacctgcactgtaggCttcccccatgaacatcctgt	8	15	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:142506432C>T	ENST00000430863.1	-	0	330					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCACTGTAGGCTTCCCCCATG	0.632																																					.		.											.	.	0			.						.						88	89	88					8																	142506432		2158	4241	6399			389690	.			TGTAGGCTTCCCC			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506432C>T		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	167	47	.	0	0	0	0	0		RNA	SNP	ENST00000430863.1	37		.	.	.	.	.	.	.	.	.	.	C	9.808	1.182389	0.21870	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	T	0.58032	0.2094	N	0.24115	0.695	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.68838	-0.5303	7	0.72032	D	0.01	.	12.2669	0.54683	0.0:1.0:0.0:0.0	.	84	Q6ZUA9	.	T	49	.	ENSP00000431031:A84T	A	-	1	0	AC100803.1	142575614	0.895000	0.30542	0.949000	0.38748	0.015000	0.08874	0.630000	0.24553	2.252000	0.74401	0.561000	0.74099	GCC	.		0.632	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		T	142506432	C	T	142506432	1	4	4	0	1	0	0	0	0	0	0	0	5952	797	28	3		3	FLJ43860	8	142506432	RNA	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	16937961	142506432	3857590	89	339											
RHPN1	114822	broad.mit.edu	37	chr8	144459625	144459625	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactggtctacaccgctgaaGgtaggtactggcctccaagc	12	12	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:144459625G>T	ENST00000289013.6	+	4	482	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	127	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)			CACCGCTGAAGGTAGGTACTG	0.582																																					p.K127N		.											.	RHPN1-67	0			c.G381T						.						77	80	79					8																	144459625		2008	4176	6184	SO:0001630	splice_region_variant	114822	exon4			GCTGAAGGTAGGT	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.381+1G>T	8.37:g.144459625G>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	95	4	NM_052924	0	0	0	0	0	Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889891	0.52014	.	.	ENSG00000158106	ENST00000289013	T	0.18810	2.19	4.22	4.22	0.49857	.	0.316966	0.34386	N	0.004010	T	0.26231	0.0640	M	0.62016	1.91	0.58432	D	0.999994	P	0.43352	0.804	P	0.44897	0.463	T	0.03750	-1.1007	10	0.87932	D	0	-29.9128	9.0868	0.36586	0.1047:0.0:0.8953:0.0	.	127	Q8TCX5-2	.	N	127	ENSP00000289013:K127N	ENSP00000289013:K127N	K	+	3	2	RHPN1	144530768	1.000000	0.71417	0.990000	0.47175	0.229000	0.25112	5.352000	0.66028	1.882000	0.54519	0.313000	0.20887	AAG	.		0.582	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1		Missense_Mutation	T	144459625	G	T	144459625	5	4	4	1	0	0	0	0	0	0	1	0	13395	1014	35	3	395	3	RHPN1	8	144459625	Splice_Site	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1953193	144459625	1904397	90	340											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990528	144990528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggtgcgggagccAgcggtagagccggagccgct	19	13	0	1	rs7014582	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000356346.3_Silent_p.A4473A|PLEC_ENST00000354589.3_Silent_p.A4487A|PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000345136.3_Silent_p.A4487A|PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000436759.2_Silent_p.A4514A|PLEC_ENST00000398774.2_Silent_p.A4455A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12	16	15		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	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.13872T>C	8.37:g.144990528A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144990528	A	G	144990528	2	3	4	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144990528	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	530903	144990528	1373494	91	341											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	13192144	13192144	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgataccttttctgttagctCaatatcacataagtccaggc	6	10	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:13192144C>A	ENST00000319217.7	-	15	2201	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E652*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E652*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E652*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E652*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E652*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E652*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	652					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)		TCTGTTAGCTCAATATCACAT	0.378																																					p.E652X		.											.	MPDZ-231	0			c.G1954T						.						120	112	114					9																	13192144		1913	4136	6049	SO:0001587	stop_gained	8777	exon15			TTAGCTCAATATC	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.1954G>T	9.37:g.13192144C>A	ENSP00000320006:p.Glu652*	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	110	21	NM_003829	0	0	0	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.874584	0.98986	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	.	.	.	5.77	4.85	0.62838	.	0.312973	0.22962	N	0.053540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	12.3233	0.54997	0.0:0.6949:0.3051:0.0	.	.	.	.	X	652	.	ENSP00000320006:E652X	E	-	1	0	MPDZ	13182144	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	2.625000	0.46452	2.723000	0.93209	0.655000	0.94253	GAG	.		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13192144	C	A	13192144	4	1	4	1	0	0	0	0	0	1	0	0	9760	835	29	3	4299	3	MPDZ	9	13192144	Nonsense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		13192144	128021287	92	342											
SH3GL2	6456	broad.mit.edu;bcgsc.ca	37	chr9	17795615	17795615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaggggagttgggattTaaagagggcgatatcatcac	14	4	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:17795615T>C	ENST00000380607.4	+	9	1053	c.933T>C	c.(931-933)ttT>ttC	p.F311F	SH3GL2_ENST00000537391.1_Silent_p.F264F	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	311	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGTTGGGATTTAAAGAGGGCG	0.483																																					p.F311F		.											.	SH3GL2-91	0			c.T933C						.						120	110	114					9																	17795615		2203	4300	6503	SO:0001819	synonymous_variant	6456	exon9			GGGATTTAAAGAG	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.933T>C	9.37:g.17795615T>C		Somatic	227	0		WXS	Illumina GAIIx	Phase_I	309	12	NM_003026	0	0	0	0	0	B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	37	CCDS6483.1																																																																																			.		0.483	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		C	17795615	T	C	17795615	2	2	4	1	0	0	0	0	0	0	0	1	14296	1751	61	4		4	SH3GL2	9	17795615	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	4603471	17795615	123417816	93	343											
IFNA8	3445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	21409580	21409580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatagagtctcccctgatGtacgaggactccatcctggc	11	12	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:21409580G>A	ENST00000380205.1	+	1	435	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	135					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTCCCCTGATGTACGAGGACT	0.483																																					p.M135I		.											.	IFNA8-90	0			c.G405A						.						162	159	160					9																	21409580		2203	4300	6503	SO:0001583	missense	3445	exon1			CCTGATGTACGAG		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.405G>A	9.37:g.21409580G>A	ENSP00000369553:p.Met135Ile	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	215	47	NM_002170	0	0	0	0	0	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631401	0.14322	.	.	ENSG00000120242	ENST00000380205	T	0.05258	3.47	3.33	-2.55	0.06288	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.935009	0.08898	N	0.877648	T	0.08582	0.0213	M	0.77820	2.39	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.38929	-0.9638	10	0.29301	T	0.29	.	6.3681	0.21465	0.1845:0.4747:0.3408:0.0	.	135	P32881	IFNA8_HUMAN	I	135	ENSP00000369553:M135I	ENSP00000369553:M135I	M	+	3	0	IFNA8	21399580	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.166000	0.09954	-0.460000	0.07003	0.491000	0.48974	ATG	.		0.483	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		A	21409580	G	A	21409580	3	1	4	1	0	0	0	0	1	0	0	0	7570	1377	48	3	407	3	IFNA8	9	21409580	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3613965	21409580	119803851	94	344											
PIGO	84720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35092629	35092629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacagtcggcagtgtcgCctcagcccccttggggctct	11	15	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:35092629C>T	ENST00000378617.3	-	7	1649	c.1255G>A	c.(1255-1257)Gcg>Acg	p.A419T	PIGO_ENST00000298004.5_Missense_Mutation_p.A419T|PIGO_ENST00000341666.3_Missense_Mutation_p.A419T|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Missense_Mutation_p.A419T	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	419					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCAGTGTCGCCTCAGCCCCC	0.597																																					p.A419T		.											.	PIGO-290	0			c.G1255A						.						55	60	58					9																	35092629		2190	4285	6475	SO:0001583	missense	84720	exon8			GTGTCGCCTCAGC	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1255G>A	9.37:g.35092629C>T	ENSP00000367880:p.Ala419Thr	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	81	21	NM_001201484	0	0	0	0	0	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887886	0.02511	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56611	0.51;0.45;0.45;0.51	5.38	4.49	0.54785	.	0.613824	0.18174	N	0.149342	T	0.41743	0.1172	L	0.55743	1.74	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.26538	-1.0100	10	0.14252	T	0.57	-22.6414	6.3464	0.21351	0.1493:0.6955:0.0:0.1552	.	419;419	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	T	419	ENSP00000298004:A419T;ENSP00000367880:A419T;ENSP00000339382:A419T;ENSP00000354678:A419T	ENSP00000298004:A419T	A	-	1	0	PIGO	35082629	0.168000	0.22989	0.625000	0.29200	0.212000	0.24457	0.154000	0.16343	1.516000	0.48900	0.655000	0.94253	GCG	.		0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35092629	C	T	35092629	3	4	4	1	0	0	0	0	1	0	0	0	11933	739	26	3	2034	3	PIGO	9	35092629	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	13683049	35092629	106120802	95	345											
SHC3	53358	hgsc.bcm.edu	37	chr9	91793225	91793225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcgccttgcgcagcgcctCgccggacaccaagtagggag	16	14	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:91793225C>T	ENST00000375835.4	-	1	457	c.151G>A	c.(151-153)Gag>Aag	p.E51K	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	51					central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CGCAGCGCCTCGCCGGACACC	0.726																																					p.E51K		.											.	SHC3-415	0			c.G151A						.						4	6	5					9																	91793225		1791	3751	5542	SO:0001583	missense	53358	exon1			GCGCCTCGCCGGA	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.151G>A	9.37:g.91793225C>T	ENSP00000364995:p.Glu51Lys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	19	14	NM_016848	0	0	0	0	0	Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	5.586	0.292896	0.10567	.	.	ENSG00000148082	ENST00000375835	T	0.28666	1.6	2.85	-0.275	0.12906	.	0.893878	0.09388	U	0.809007	T	0.18173	0.0436	N	0.22421	0.69	0.32475	N	0.542304	B	0.17852	0.024	B	0.04013	0.001	T	0.25537	-1.0129	10	0.38643	T	0.18	.	6.2794	0.20999	0.0:0.6501:0.155:0.1949	.	51	Q92529	SHC3_HUMAN	K	51	ENSP00000364995:E51K	ENSP00000364995:E51K	E	-	1	0	SHC3	90983045	0.988000	0.35896	0.236000	0.24074	0.072000	0.16883	0.942000	0.29017	0.060000	0.16281	-0.529000	0.04317	GAG	.		0.726	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		T	91793225	C	T	91793225	3	4	4	1	0	0	0	0	1	0	0	0	14317	893	31	1	1681	1	SHC3	9	91793225	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	56700596	91793225	49420206	96	346											
OR1K1	392392	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	125562456	125562458	+	In_Frame_Del	DEL	ACA	ACA	-													cattcgttttattgggactgAcaacaagtcctggacagcag					rs201520967		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	ACA	ACA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:125562456_125562458delACA	ENST00000277309.2	+	1	87_89	c.55_57delACA	c.(55-57)acadel	p.T20del		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, 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)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATTGGGACTGACAACAAGTCCTG	0.527																																					p.19_19del		.											.	OR1K1-69	0			c.55_57del						.																																			SO:0001651	inframe_deletion	392392	exon1			GGACTGACAACAA	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.55_57delACA	9.37:g.125562459_125562461delACA	ENSP00000277309:p.Thr20del	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	196	42	NM_080859	0	0	0	0	0	B9EH41|Q4VXB7|Q96R23	In_Frame_Del	DEL	ENST00000277309.2	37	CCDS35132.1																																																																																			.		0.527	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			-	125562458	ACA	-	125562456	7	5	4	1	0	1	0	1	0	0	0	0	11001	275	10	0	57	0	OR1K1	9	125562456	In_Frame_Del	DEL	ACA	TCGA-OR-A5J4-01A-11D-A29I-10	33769231	125562456	15650975	97	347											
PRDM12	59335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	133556750	133556750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacatgcgcatccacacGctggacaagcccttcgtgtg	10	15	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:133556750G>A	ENST00000253008.2	+	5	858	c.798G>A	c.(796-798)acG>acA	p.T266T		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	266					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCATCCACACGCTGGACAAGC	0.697																																					p.T266T		.											.	PRDM12-90	0			c.G798A						.						11	13	12					9																	133556750		2191	4273	6464	SO:0001819	synonymous_variant	59335	exon5			CCACACGCTGGAC	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.798G>A	9.37:g.133556750G>A		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	122	27	NM_021619	0	0	0	0	0	A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																			.		0.697	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133556750	G	A	133556750	2	1	4	1	0	0	0	0	0	0	0	1	12495	1074	38	1		1	PRDM12	9	133556750	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	7994294	133556750	7656681	98	348											
SLC2A6	11182	broad.mit.edu;bcgsc.ca	37	chr9	136337148	136337148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggggaccttgacctagcGcaagaaggaccttctccccg	13	14	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:136337148G>A	ENST00000371899.4	-	10	1596	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.R445C	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	507					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TTGACCTAGCGCAAGAAGGAC	0.632																																					p.R507C		.											.	SLC2A6-90	0			c.C1519T						.						87	72	77					9																	136337148		2203	4300	6503	SO:0001583	missense	11182	exon10			CCTAGCGCAAGAA	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1519C>T	9.37:g.136337148G>A	ENSP00000360966:p.Arg507Cys	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	135	6	NM_017585	0	0	0	0	0	A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795090	0.31777	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;D	0.82893	-1.56;-1.66	4.78	3.81	0.43845	.	1.447100	0.04402	N	0.364393	T	0.74869	0.3773	N	0.08118	0	0.21386	N	0.999704	D;P	0.54772	0.968;0.946	P;B	0.47015	0.534;0.333	T	0.68322	-0.5439	10	0.87932	D	0	.	9.714	0.40263	0.0:0.0:0.7213:0.2787	.	445;507	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	C	445;507	ENSP00000360964:R445C;ENSP00000360966:R507C	ENSP00000360964:R445C	R	-	1	0	SLC2A6	135326969	0.988000	0.35896	0.410000	0.26471	0.307000	0.27823	2.689000	0.46993	2.514000	0.84764	0.650000	0.86243	CGC	.		0.632	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		A	136337148	G	A	136337148	3	1	4	1	0	0	0	0	1	0	0	0	14594	1087	38	1	8	1	SLC2A6	9	136337148	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2780398	136337148	4876283	99	349											
PAEP	5047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138453660	138453660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagccatgctgtgcctcCtgctcaccctgggcgtggcc	12	18	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr9:138453660C>T	ENST00000479141.1	+	1	57	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PAEP_ENST00000371766.2_Silent_p.L5L|PAEP_ENST00000277508.5_Silent_p.L5L	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	5					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCTGTGCCTCCTGCTCACCCT	0.657																																					p.L5L		.											.	PAEP-68	0			c.C13T						.						17	16	16					9																	138453660		2189	4258	6447	SO:0001819	synonymous_variant	5047	exon1			TGCCTCCTGCTCA		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.13C>T	9.37:g.138453660C>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	205	45	NM_002571	0	0	0	0	0	Q5T6T1|Q9UG92	Silent	SNP	ENST00000479141.1	37	CCDS35173.1																																																																																			.		0.657	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		T	138453660	C	T	138453660	2	4	4	1	0	0	0	0	0	0	0	1	11421	680	24	3		3	PAEP	9	138453660	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	2116512	138453660	2759771	100	350											
C10orf140	387640	hgsc.bcm.edu	37	chr10	21805480	21805480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccctcctcctcctcTtcctcctcctcctcctctcc	1	27	2	0	rs201836118		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:21805480T>C	ENST00000449193.2	-	4	3524	c.1272A>G	c.(1270-1272)gaA>gaG	p.E424E	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.E345E	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	343						nucleus (GO:0005634)											cctcctcctcttcctcctcct	0.632																																					p.E424E		.											.	.	0			c.A1272G						.						5	6	6					10																	21805480		2001	4121	6122	SO:0001819	synonymous_variant	387640	exon4			CTCCTCTTCCTCC	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1272A>G	10.37:g.21805480T>C		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_207371	0	0	0	0	0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																			.		0.632	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		C	21805480	T	C	21805480	2	2	4	1	0	0	0	0	0	0	0	1	1600	1606	56	4		4	C10orf140	10	21805480	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10		21805480	113729267	101	351											
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	43606665	43606665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccctagatcgggaaagTctgtgtggaaaactgccagg	13	11	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:43606665T>C	ENST00000355710.3	+	7	1506	c.1274T>C	c.(1273-1275)gTc>gCc	p.V425A	RET_ENST00000340058.5_Missense_Mutation_p.V425A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	425					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)	ATCGGGAAAGTCTGTGTGGAA	0.582		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.V425A	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"	.	RET-4507	0			c.T1274C						.						96	89	92					10																	43606665		2203	4300	6503	SO:0001583	missense	5979	exon7	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	GGAAAGTCTGTGT	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.1274T>C	10.37:g.43606665T>C	ENSP00000347942:p.Val425Ala	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	100	28	NM_020630	0	0	0	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647816	0.87958	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.81247	-1.35;-1.47	5.34	5.34	0.76211	.	0.299436	0.36972	N	0.002303	D	0.84056	0.5388	L	0.59436	1.845	0.45015	D	0.998038	P;P;D	0.58268	0.72;0.917;0.982	B;P;P	0.55391	0.278;0.497;0.775	T	0.82131	-0.0609	10	0.25751	T	0.34	.	15.3223	0.74132	0.0:0.0:0.0:1.0	.	171;425;425	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	A	425	ENSP00000347942:V425A;ENSP00000344798:V425A	ENSP00000344798:V425A	V	+	2	0	RET	42926671	1.000000	0.71417	0.820000	0.32676	0.971000	0.66376	7.035000	0.76517	2.020000	0.59435	0.459000	0.35465	GTC	.		0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		C	43606665	T	C	43606665	3	2	4	1	0	0	0	0	1	0	0	0	13280	1667	58	4	1300	4	RET	10	43606665	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	21801185	43606665	91928082	102	352											
NPFFR1	64106	hgsc.bcm.edu	37	chr10	72014863	72014863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgactcagagggcagcccGgagtcgctgggccgcaccac	14	17	1	1	rs60225321	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:72014863G>A	ENST00000277942.6	-	4	1142	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	381					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						AGGGCAGCCCGGAGTCGCTGG	0.751													G|||	392	0.0782748	0.1165	0.0303	5008	,	,		10955	0.0942		0.0487	False		,,,				2504	0.0746				p.S381S		.											.	NPFFR1-22	0			c.C1143T						.	G		209,2965		3,203,1381	3	5	4		1143	-9.4	0.2	10	dbSNP_129	4	215,6851		0,215,3318	no	coding-synonymous	NPFFR1	NM_022146.4		3,418,4699	AA,AG,GG		3.0427,6.5848,4.1406		381/431	72014863	424,9816	1587	3533	5120	SO:0001819	synonymous_variant	64106	exon4			CAGCCCGGAGTCG	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.1143C>T	10.37:g.72014863G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_022146	0	0	0	0	0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																			G|0.929;A|0.071		0.751	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		A	72014863	G	A	72014863	2	1	4	1	0	0	0	0	0	0	0	1	10616	1103	39	1		1	NPFFR1	10	72014863	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	28408198	72014863	63519884	103	353											
ZNF503	84858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	77160944	77160944	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagttcgtgccgtcagcatCttcagcaccttgattggcag	10	13	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:77160944C>A	ENST00000372524.4	-	1	720	c.234G>T	c.(232-234)aaG>aaT	p.K78N	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.K78N|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	78					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)					CCGTCAGCATCTTCAGCACCT	0.662																																					p.K78N		.											.	ZNF503-91	0			c.G234T						.						76	60	65					10																	77160944		2203	4300	6503	SO:0001583	missense	84858	exon1			CAGCATCTTCAGC	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.234G>T	10.37:g.77160944C>A	ENSP00000361602:p.Lys78Asn	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	42	12	NM_032772	0	0	0	0	0	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975594	0.53720	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.59083	0.29;0.29	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	N	0.24115	0.695	0.47547	D	0.999455	D	0.54964	0.969	P	0.46144	0.505	T	0.35624	-0.9781	10	0.38643	T	0.18	-10.2823	9.0487	0.36363	0.0:0.8659:0.0:0.1341	.	78	Q96F45	ZN503_HUMAN	N	78	ENSP00000361602:K78N;ENSP00000438988:K78N	ENSP00000361594:K78N	K	-	3	2	ZNF503	76830950	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.878000	0.56130	2.460000	0.83146	0.448000	0.29417	AAG	.		0.662	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		A	77160944	C	A	77160944	3	1	4	1	0	0	0	0	1	0	0	0	17999	912	32	3	1714	3	ZNF503	10	77160944	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5146081	77160944	58373803	104	354											
PNLIPRP1	5407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118354303	118354303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagaagggctcccaagCcacctacacacaggctgcca	10	15	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:118354303C>A	ENST00000528052.1	+	5	463	c.392C>A	c.(391-393)gCc>gAc	p.A131D	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A131D|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A131D			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	131					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGCTCCCAAGCCACCTACACA	0.592																																					p.A131D		.											.	PNLIPRP1-154	0			c.C392A						.						111	92	99					10																	118354303		2203	4300	6503	SO:0001583	missense	5407	exon5			CCCAAGCCACCTA	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.392C>A	10.37:g.118354303C>A	ENSP00000433933:p.Ala131Asp	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	123	45	NM_006229	0	0	0	0	0	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440916	0.63067	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000471549;ENST00000534537	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.63;-2.77	5.31	5.31	0.75309	Lipase, N-terminal (1);	0.149740	0.45361	D	0.000366	D	0.85031	0.5604	L	0.28344	0.845	0.80722	D	1	B	0.16396	0.017	B	0.23150	0.044	T	0.80320	-0.1432	10	0.38643	T	0.18	-15.9764	14.4137	0.67135	0.0:0.8513:0.1487:0.0	.	131	P54315	LIPR1_HUMAN	D	131	ENSP00000436123:A131D;ENSP00000351695:A131D;ENSP00000433933:A131D;ENSP00000431207:A131D;ENSP00000434159:A131D	ENSP00000351695:A131D	A	+	2	0	PNLIPRP1	118344293	0.075000	0.21258	1.000000	0.80357	0.994000	0.84299	2.655000	0.46707	2.650000	0.89964	0.655000	0.94253	GCC	.		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		A	118354303	C	A	118354303	3	1	4	1	0	0	0	0	1	0	0	0	12189	739	26	3	406	3	PNLIPRP1	10	118354303	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	41193359	118354303	17180444	105	355											
FANK1	92565	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127693588	127693588	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatggaggccactgcagtgtGattgagtggatgataaagga	16	4	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr10:127693588G>A	ENST00000368693.1	+	7	779	c.675G>A	c.(673-675)gtG>gtA	p.V225V	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Silent_p.V219V			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	225						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ACTGCAGTGTGATTGAGTGGA	0.527																																					p.V225V		.											.	FANK1-91	0			c.G675A						.						174	158	163					10																	127693588		2203	4300	6503	SO:0001819	synonymous_variant	92565	exon7			CAGTGTGATTGAG	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.675G>A	10.37:g.127693588G>A		Somatic	167	1		WXS	Illumina GAIIx	Phase_I	159	49	NM_145235	0	0	0	0	0	Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	CCDS31309.1																																																																																			.		0.527	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		A	127693588	G	A	127693588	2	1	4	1	0	0	0	0	0	0	0	1	5694	1277	45	3		3	FANK1	10	127693588	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	9339285	127693588	7841159	106	356											
TH	7054	bcgsc.ca	37	chr11	2188688	2188688	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaatctcctcggcggtGtactccacacggggaatcgg	14	12	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:2188688G>T	ENST00000381178.1	-	7	783	c.765C>A	c.(763-765)taC>taA	p.Y255*	TH_ENST00000333684.5_Nonsense_Mutation_p.Y228*|TH_ENST00000352909.3_Nonsense_Mutation_p.Y224*|TH_ENST00000381175.1_Nonsense_Mutation_p.Y251*	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	255					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCTCGGCGGTGTACTCCACAC	0.697																																					p.Y255X		.											.	TH-90	0			c.C765A						.						16	16	16					11																	2188688		2163	4256	6419	SO:0001587	stop_gained	7054	exon7			GGCGGTGTACTCC	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.765C>A	11.37:g.2188688G>T	ENSP00000370571:p.Tyr255*	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_199292	0	0	0	0	0	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Nonsense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.751688|4.751688	0.89753|0.89753	.|.	.|.	ENSG00000180176|ENSG00000180176	ENST00000412076|ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	.|.	.|.	.|.	3.4|3.4	2.46|2.46	0.29980|0.29980	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.37265|.	0.0997|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44329|.	-0.9335|.	3|.	.|0.17369	.|T	.|0.5	-25.5221|-25.5221	9.3424|9.3424	0.38087|0.38087	0.1098:0.0:0.8902:0.0|0.1098:0.0:0.8902:0.0	.|.	.|.	.|.	.|.	N|X	38|255;251;224;228	.|.	.|ENSP00000328814:Y228X	H|Y	-|-	1|3	0|2	TH|TH	2145264|2145264	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.334000|0.334000	0.28698|0.28698	3.955000|3.955000	0.56715|0.56715	1.607000|1.607000	0.50170|0.50170	0.313000|0.313000	0.20887|0.20887	CAC|TAC	.		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2188688	G	T	2188688	4	4	4	1	0	0	0	0	0	1	0	0	15885	1372	48	3	853	3	TH	11	2188688	Nonsense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		2188688	132817828	107	357											
OR52N1	79473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5809714	5809714	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atgagcaccccagactccatCcctgtgaaggtgtgcacaaa	9	13	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:5809714C>G	ENST00000317078.1	-	1	332	c.333G>C	c.(331-333)ggG>ggC	p.G111G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, 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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGACTCCATCCCTGTGAAGG	0.502																																					p.G111G		.											.	OR52N1-69	0			c.G333C						.						158	141	147					11																	5809714		2201	4296	6497	SO:0001819	synonymous_variant	79473	exon1			CTCCATCCCTGTG	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.333G>C	11.37:g.5809714C>G		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	79	57	NM_001001913	0	0	0	0	0	Q6IFF6	Silent	SNP	ENST00000317078.1	37	CCDS31398.1																																																																																			.		0.502	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		G	5809714	C	G	5809714	2	3	4	1	0	0	0	0	0	0	0	1	11166	842	30	3		3	OR52N1	11	5809714	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	3621026	5809714	129196802	108	358											
EML3	256364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62376216	62376216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttggccttacctttccatCcttatccactccagctgtct	4	16	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:62376216C>T	ENST00000394773.2	-	8	1298	c.991G>A	c.(991-993)Gat>Aat	p.D331N	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.D303N|EML3_ENST00000529309.1_Missense_Mutation_p.D331N|EML3_ENST00000531557.1_Missense_Mutation_p.D114N|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.D332N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	331						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						ACCTTTCCATCCTTATCCACT	0.547																																					p.D331N		.											.	EML3-91	0			c.G991A						.						166	146	153					11																	62376216		2202	4299	6501	SO:0001583	missense	256364	exon8			TTCCATCCTTATC	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.991G>A	11.37:g.62376216C>T	ENSP00000378254:p.Asp331Asn	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	359	69	NM_153265	0	0	0	0	0	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.27|19.27	3.795493|3.795493	0.70452|0.70452	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.55052|.	0.56;0.56;0.54;0.54;0.54|.	5.55|5.55	4.58|4.58	0.56647|0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.052862|.	0.64402|.	D|.	0.000001|.	T|T	0.64789|0.64789	0.2630|0.2630	L|L	0.57536|0.57536	1.79|1.79	0.49915|0.49915	D|D	0.999833|0.999833	D;D;B;P;D|.	0.64830|.	0.994;0.991;0.051;0.877;0.992|.	D;P;B;B;P|.	0.64776|.	0.929;0.839;0.081;0.265;0.755|.	T|T	0.62450|0.62450	-0.6852|-0.6852	10|5	0.87932|.	D|.	0|.	-21.0427|-21.0427	13.5909|13.5909	0.61959|0.61959	0.0:0.8432:0.1568:0.0|0.0:0.8432:0.1568:0.0	.|.	331;331;114;332;303|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	N|E	331;332;114;303;331|325	ENSP00000378254:D331N;ENSP00000278845:D332N;ENSP00000433417:D114N;ENSP00000435064:D303N;ENSP00000434513:D331N|.	ENSP00000278845:D332N|.	D|G	-|-	1|2	0|0	EML3|EML3	62132792|62132792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.404000|0.404000	0.30871|0.30871	5.604000|5.604000	0.67626|0.67626	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.		0.547	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		T	62376216	C	T	62376216	3	4	4	1	0	0	0	0	1	0	0	0	5114	855	30	3	1759	3	EML3	11	62376216	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	56566502	62376216	72630300	109	359											
CCDC88B	283234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64111938	64111938	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctgaggcctgggggttgaGacaggagggccctgagcaca	18	10	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:64111938G>C	ENST00000356786.5	+	14	1969	c.1925G>C	c.(1924-1926)aGa>aCa	p.R642T	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	642						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGGGTTGAGACAGGAGGGC	0.662																																					p.R642T		.											.	CCDC88B-94	0			c.G1925C						.						23	28	26					11																	64111938		2197	4296	6493	SO:0001583	missense	283234	exon14			GGTTGAGACAGGA	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1925G>C	11.37:g.64111938G>C	ENSP00000349238:p.Arg642Thr	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	157	50	NM_032251	0	0	0	0	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	12.41	1.930880	0.34096	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.24908	1.83	3.02	0.996	0.19844	.	.	.	.	.	T	0.12987	0.0315	N	0.24115	0.695	0.09310	N	0.999995	P;P;P	0.46512	0.608;0.879;0.608	B;B;B	0.37943	0.261;0.242;0.261	T	0.13629	-1.0502	9	0.44086	T	0.13	.	3.6002	0.08021	0.2779:0.2106:0.5114:0.0	.	642;291;642	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	T	642	ENSP00000349238:R642T	ENSP00000349238:R642T	R	+	2	0	CCDC88B	63868514	0.002000	0.14202	0.038000	0.18304	0.241000	0.25554	0.350000	0.20079	0.090000	0.17273	0.299000	0.19835	AGA	.		0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		C	64111938	G	C	64111938	3	2	4	1	0	0	0	0	1	0	0	0	2871	942	33	3	1979	3	CCDC88B	11	64111938	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1735722	64111938	70894578	110	360											
DPP3	10072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66272099	66272099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgctgaagtccacagGggatgtggccggagggcggg	20	8	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:66272099G>A	ENST00000360510.2	+	17	1960	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	DPP3_ENST00000541961.1_Missense_Mutation_p.G632E|DPP3_ENST00000530165.1_Missense_Mutation_p.G602E|DPP3_ENST00000453114.1_Missense_Mutation_p.G632E|DPP3_ENST00000531863.1_Missense_Mutation_p.G652E|DPP3_ENST00000532677.1_Missense_Mutation_p.G651E			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	632					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						AAGTCCACAGGGGATGTGGCC	0.612																																					p.G632E		.											.	DPP3-46	0			c.G1895A						.						81	75	77					11																	66272099		2200	4295	6495	SO:0001583	missense	10072	exon17			CCACAGGGGATGT	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.1895G>A	11.37:g.66272099G>A	ENSP00000353701:p.Gly632Glu	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	52	21	NM_130443	0	0	0	0	0	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058096	0.76074	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.57	5.57	0.84162	.	0.057703	0.64402	D	0.000003	T	0.49643	0.1569	M	0.74467	2.265	0.46298	D	0.998971	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.999	T	0.42137	-0.9469	10	0.41790	T	0.15	.	12.8963	0.58101	0.0:0.1632:0.8367:0.0	.	651;632	G3V1D3;Q9NY33	.;DPP3_HUMAN	E	652;651;632;632;632;602;530;212	ENSP00000432782:G652E;ENSP00000435284:G651E;ENSP00000353701:G632E;ENSP00000389943:G632E;ENSP00000440502:G632E;ENSP00000436941:G602E	ENSP00000309957:G212E	G	+	2	0	DPP3	66028675	1.000000	0.71417	0.989000	0.46669	0.718000	0.41266	4.486000	0.60286	2.685000	0.91497	0.543000	0.68304	GGG	.		0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66272099	G	A	66272099	3	1	4	1	0	0	0	0	1	0	0	0	4742	1232	43	3	1957	3	DPP3	11	66272099	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2160161	66272099	68734417	111	361											
RBM14	10432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	66384417	66384417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatgtcgcgcccaaggcctCttaatacttggaagattttc	9	10	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:66384417C>G	ENST00000310137.4	+	1	365	c.226C>G	c.(226-228)Ctt>Gtt	p.L76V	RBM4_ENST00000503028.2_5'UTR|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.L76V|RBM14_ENST00000409372.1_Missense_Mutation_p.L76V|RBM4_ENST00000514361.3_Missense_Mutation_p.L76V|RBM14_ENST00000409738.4_Missense_Mutation_p.L76V|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.L76V|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000443702.1_Missense_Mutation_p.L76V|RBM14_ENST00000393979.3_Missense_Mutation_p.L76V	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	76					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCAAGGCCTCTTAATACTTG	0.672																																					p.L76V		.											.	RBM14-92	0			c.C226G						.						50	61	57					11																	66384417		2178	4254	6432	SO:0001583	missense	10432	exon1			AGGCCTCTTAATA	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.226C>G	11.37:g.66384417C>G	ENSP00000311747:p.Leu76Val	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	122	11	NM_001198837	0	0	0	0	0	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144943	0.57044	.	.	ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000248643;ENSG00000248643	ENST00000310137;ENST00000393979;ENST00000409372;ENST00000443702;ENST00000409738;ENST00000412278;ENST00000500635	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;3.36;3.36;3.36;3.36;3.36	5.06	3.19	0.36642	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.37623	N	0.002014	T	0.60689	0.2288	L	0.28400	0.85	0.80722	D	1	P;P;P;P	0.44946	0.846;0.759;0.478;0.549	B;B;B;B	0.42062	0.374;0.256;0.109;0.082	T	0.53920	-0.8370	10	0.29301	T	0.29	-0.4428	9.128	0.36828	0.0:0.8193:0.0:0.1807	.	76;76;76;76	B0LM41;Q96PK6-2;Q2PYN1;Q96PK6	.;.;.;RBM14_HUMAN	V	76	ENSP00000311747:L76V;ENSP00000377548:L76V;ENSP00000386518:L76V;ENSP00000414650:L76V;ENSP00000386995:L76V;ENSP00000388552:L76V;ENSP00000421279:L76V	ENSP00000311747:L76V	L	+	1	0	RBM14;RBM14-RBM4	66140993	0.985000	0.35326	0.892000	0.35008	0.983000	0.72400	2.070000	0.41491	0.547000	0.28938	0.462000	0.41574	CTT	.		0.672	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		G	66384417	C	G	66384417	3	3	4	1	0	0	0	0	1	0	0	0	13160	913	32	3	228	3	RBM14	11	66384417	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	112318	66384417	68622099	112	362											
CORO1B	57175	hgsc.bcm.edu	37	chr11	67206163	67206163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctctggccaggctgccGctgggggtggcatcagcagc	17	14	2	0	rs148492786	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:67206163G>A	ENST00000341356.5	-	10	1433	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.S441S	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	441					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGGCTGCCGCTGGGGGTGG	0.721													G|||	4	0.000798722	8e-04	0	5008	,	,		14898	0		0.003	False		,,,				2504	0				p.S441S		.											.	CORO1B-108	0			c.C1323T						.						3	4	3					11																	67206163		1791	3801	5592	SO:0001819	synonymous_variant	57175	exon10			GCTGCCGCTGGGG	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1323C>T	11.37:g.67206163G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_020441	0	0	0	0	0	B2RD45	Silent	SNP	ENST00000341356.5	37	CCDS8164.1																																																																																			G|0.997;A|0.003		0.721	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		A	67206163	G	A	67206163	2	1	4	1	0	0	0	0	0	0	0	1	3761	1078	38	1		1	CORO1B	11	67206163	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	821746	67206163	67800353	113	363											
OR2AT4	341152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	74800245	74800245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcaatgctgttatatgCcatctgggaggtccttacta	11	8	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:74800245C>G	ENST00000305159.3	-	1	554	c.514G>C	c.(514-516)Gca>Cca	p.A172P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTGTTATATGCCATCTGGGAG	0.567																																					p.A172P		.											.	OR2AT4-69	0			c.G514C						.						98	88	92					11																	74800245		2200	4293	6493	SO:0001583	missense	341152	exon1			TATATGCCATCTG	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.514G>C	11.37:g.74800245C>G	ENSP00000304846:p.Ala172Pro	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	103	43	NM_001005285	0	0	0	0	0	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	0.929	-0.713439	0.03206	.	.	ENSG00000171561	ENST00000305159	T	0.34859	1.34	4.73	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.950518	0.08500	U	0.936669	T	0.20210	0.0486	N	0.00389	-1.56	0.09310	N	1	P	0.50066	0.931	P	0.54401	0.751	T	0.33523	-0.9865	10	0.42905	T	0.14	.	9.3636	0.38210	0.0:0.7436:0.0:0.2564	.	172	A6NND4	O2AT4_HUMAN	P	172	ENSP00000304846:A172P	ENSP00000304846:A172P	A	-	1	0	OR2AT4	74477893	0.001000	0.12720	0.187000	0.23214	0.034000	0.12701	-0.365000	0.07573	0.316000	0.23135	-0.813000	0.03139	GCA	.		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		G	74800245	C	G	74800245	3	3	4	1	0	0	0	0	1	0	0	0	11026	739	26	3	451	3	OR2AT4	11	74800245	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	7594082	74800245	60206271	114	364											
MLL	4297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118344503	118344503	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggacaagagtagagagagaGaccgggagagagaaaaggag	18	3	0	6			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:118344503G>C	ENST00000389506.5	+	3	2629	c.2629G>C	c.(2629-2631)Gac>Cac	p.D877H	KMT2A_ENST00000534358.1_Missense_Mutation_p.D877H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D877H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	877					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)										tagagagagagaccgggagag	0.473																																					p.D877H		.											.	MLL-1255	0			c.G2629C						.						46	45	45					11																	118344503		2200	4296	6496	SO:0001583	missense	4297	exon3			GAGAGAGACCGGG	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.2629G>C	11.37:g.118344503G>C	ENSP00000374157:p.Asp877His	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	49	18	NM_001197104	0	0	0	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014563	0.35511	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.83673	-1.75;0.36;-1.75;-1.72	5.56	5.56	0.83823	.	0.106294	0.64402	D	0.000005	D	0.84620	0.5512	N	0.24115	0.695	0.43885	D	0.996506	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.61800	0.894;0.894;0.894	D	0.84377	0.0547	10	0.41790	T	0.15	.	19.503	0.95104	0.0:0.0:1.0:0.0	.	877;877;910	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	H	877;910;877;877	ENSP00000436786:D877H;ENSP00000432391:D910H;ENSP00000374157:D877H;ENSP00000346516:D877H	ENSP00000346516:D877H	D	+	1	0	MLL	117849713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.633000	0.67825	2.781000	0.95711	0.591000	0.81541	GAC	.		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118344503	G	C	118344503	3	2	4	1	0	0	0	0	1	0	0	0	9658	942	33	3	2639	3	MLL	11	118344503	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	43544258	118344503	16662013	115	365											
HMBS	3145	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	118963200	118963200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccgagactctgcttcgCtgcatcgctgaaagggcctt	11	13	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:118963200C>T	ENST00000278715.3	+	11	889	c.738C>T	c.(736-738)cgC>cgT	p.R246R	HMBS_ENST00000542729.1_Intron|HMBS_ENST00000392841.1_Silent_p.R229R|HMBS_ENST00000537841.1_Silent_p.R229R|HMBS_ENST00000544387.1_Intron|HMBS_ENST00000543090.1_Silent_p.R215R|HMBS_ENST00000442944.2_Silent_p.R229R	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	246					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTCTGCTTCGCTGCATCGCTG	0.607																																					p.R246R		.											.	HMBS-90	0			c.C738T						.						112	107	108					11																	118963200		2200	4295	6495	SO:0001819	synonymous_variant	3145	exon11			GCTTCGCTGCATC	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.738C>T	11.37:g.118963200C>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	75	6	NM_000190	0	0	0	0	0	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Silent	SNP	ENST00000278715.3	37	CCDS8409.1																																																																																			.		0.607	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		T	118963200	C	T	118963200	2	4	4	1	0	0	0	0	0	0	0	1	7246	784	28	3		3	HMBS	11	118963200	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	618697	118963200	16043316	116	366											
FLI1	2313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	128677078	128677078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcttgccacaggtcCtccccttggaggggcacaaa	9	15	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:128677078C>A	ENST00000527786.2	+	7	1214	c.725C>A	c.(724-726)cCt>cAt	p.P242H	FLI1_ENST00000534087.2_Missense_Mutation_p.P209H|FLI1_ENST00000344954.6_Missense_Mutation_p.P209H|FLI1_ENST00000525560.1_Missense_Mutation_p.P49H|FLI1_ENST00000281428.8_Missense_Mutation_p.P176H	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	242					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCCACAGGTCCTCCCCTTGGA	0.547			T	EWSR1	Ewing sarcoma																																p.P242H		.		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	.	FLI1-1084	0			c.C725A						.						53	55	55					11																	128677078		1905	4124	6029	SO:0001583	missense	2313	exon7			CAGGTCCTCCCCT	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.725C>A	11.37:g.128677078C>A	ENSP00000433488:p.Pro242His	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	76	30	NM_002017	0	0	0	0	0	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747469	0.49257	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.23950	1.88;2.46;2.45;2.46;2.47	5.38	4.46	0.54185	.	0.702895	0.14201	N	0.334719	T	0.28267	0.0698	N	0.24115	0.695	0.48632	D	0.99968	B;B;B	0.32031	0.004;0.009;0.352	B;B;B	0.42916	0.002;0.003;0.402	T	0.17623	-1.0363	10	0.66056	D	0.02	.	15.1767	0.72916	0.0:0.8582:0.1418:0.0	.	242;49;176	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	H	49;209;242;209;176	ENSP00000437124:P49H;ENSP00000339627:P209H;ENSP00000399985:P242H;ENSP00000432950:P209H;ENSP00000281428:P176H	ENSP00000281428:P176H	P	+	2	0	FLI1	128182288	1.000000	0.71417	0.982000	0.44146	0.270000	0.26580	4.768000	0.62293	1.371000	0.46172	0.650000	0.86243	CCT	.		0.547	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		A	128677078	C	A	128677078	3	1	4	1	0	0	0	0	1	0	0	0	5946	681	24	3	751	3	FLI1	11	128677078	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	9713878	128677078	6329438	117	367											
IGSF9B	22997	hgsc.bcm.edu	37	chr11	133790390	133790390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtggggggcagtcctcggGggaggccggccttgggctgc	22	10	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr11:133790390G>T	ENST00000321016.8	-	18	3460	c.3230C>A	c.(3229-3231)cCc>cAc	p.P1077H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1077H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1077	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGTCCTCGGGGGAGGCCGGC	0.701																																					p.P1077H		.											.	IGSF9B-68	0			c.C3230A						.						22	28	26					11																	133790390		1933	4112	6045	SO:0001583	missense	22997	exon18			CCTCGGGGGAGGC	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.3230C>A	11.37:g.133790390G>T	ENSP00000317980:p.Pro1077His	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	27	14	NM_014987	0	0	0	0	0	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	G	14.76	2.630151	0.46944	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.70516	-0.18;-0.49	4.82	4.82	0.62117	.	0.000000	0.44285	D	0.000464	T	0.55130	0.1901	N	0.14661	0.345	0.29740	N	0.83721	P	0.46277	0.875	B	0.43783	0.431	T	0.57100	-0.7869	10	0.38643	T	0.18	.	11.1106	0.48230	0.0861:0.0:0.9139:0.0	.	1077	Q9UPX0	TUTLB_HUMAN	H	1077;919	ENSP00000317980:P1077H;ENSP00000436552:P919H	ENSP00000317980:P1077H	P	-	2	0	IGSF9B	133295600	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.573000	0.82421	2.220000	0.72140	0.455000	0.32223	CCC	.		0.701	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133790390	G	T	133790390	3	4	4	1	0	0	0	0	1	0	0	0	7633	1232	43	3	827	3	IGSF9B	11	133790390	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	5113312	133790390	1216126	118	368											
CACNA1C	775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2614015	2614015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgttcttccaggtcaatgAtgccgtaggaagggactggc	13	10	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:2614015A>G	ENST00000347598.4	+	8	1121	c.1121A>G	c.(1120-1122)gAt>gGt	p.D374G	CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D374G|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D374G|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D374G|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D374G|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D374G|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D374G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	374					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)	CAGGTCAATGATGCCGTAGGA	0.522																																					p.D374G		.											.	CACNA1C-34	0			c.A1121G						.						100	101	100					12																	2614015		1983	4173	6156	SO:0001583	missense	775	exon8			TCAATGATGCCGT	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.1121A>G	12.37:g.2614015A>G	ENSP00000266376:p.Asp374Gly	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	245	47	NM_001129831	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280909	0.80692	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97455	-4.34;-4.33;-4.3;-4.32;-4.31;-4.32;-4.34;-4.24;-4.29;-4.25;-4.26;-4.33;-4.37;-4.25;-4.18;-4.38;-4.34;-4.39	5.17	5.17	0.71159	Ion transport (1);	.	.	.	.	D	0.98940	0.9640	H	0.96547	3.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999;0.998;0.999;1.0;1.0;0.999;0.998;1.0;0.999;1.0;0.998;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.995;0.996;0.996;0.998;0.995;0.998;0.996;1.0;0.998;0.998;0.992;0.998;0.995;0.991;0.998;0.998;0.991;0.995	D	0.99560	1.0968	9	0.87932	D	0	.	15.178	0.72931	1.0:0.0:0.0:0.0	.	374;371;374;374;374;374;374;374;374;374;374;374;374;374;374;374;374;374;374	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	G	374	ENSP00000336982:D374G;ENSP00000382563:D374G;ENSP00000437936:D374G;ENSP00000382552:D374G;ENSP00000382547:D374G;ENSP00000382506:D374G;ENSP00000382530:D374G;ENSP00000382546:D374G;ENSP00000382500:D374G;ENSP00000266376:D374G;ENSP00000382515:D374G;ENSP00000382510:D374G;ENSP00000341092:D374G;ENSP00000382537:D374G;ENSP00000329877:D374G;ENSP00000382557:D374G;ENSP00000385724:D374G;ENSP00000382504:D374G	ENSP00000329877:D374G	D	+	2	0	CACNA1C	2484276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.168000	0.68352	0.528000	0.53228	GAT	.		0.522	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		G	2614015	A	G	2614015	3	3	4	1	0	0	0	0	1	0	0	0	2547	333	12	4	1259	4	CACNA1C	12	2614015	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10		2614015	131237880	119	369											
CLEC4C	170482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7882323	7882323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaaggttattgggttcacCtgagtgccagaatctgaaag	11	7	3	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:7882323C>A	ENST00000542353.1	-	7	1001	c.511G>T	c.(511-513)Ggt>Tgt	p.G171C	CLEC4C_ENST00000540085.1_Missense_Mutation_p.G140C|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G140C|CLEC4C_ENST00000360345.3_Missense_Mutation_p.G171C	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	171	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGGTTCACCTGAGTGCCAG	0.448																																					p.G171C		.											.	CLEC4C-93	0			c.G511T						.						138	129	132					12																	7882323		2203	4300	6503	SO:0001583	missense	170482	exon7			GTTCACCTGAGTG	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.511G>T	12.37:g.7882323C>A	ENSP00000440428:p.Gly171Cys	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	127	25	NM_130441	0	0	0	0	0	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054095	0.36277	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000543765	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	1.73	1.73	0.24493	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.55924	0.1951	M	0.93420	3.415	0.21822	N	0.999529	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.38714	-0.9648	9	0.87932	D	0	.	6.9111	0.24335	0.0:1.0:0.0:0.0	.	140;171	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	C	171;140;140;171;131	ENSP00000440428:G171C;ENSP00000346648:G140C;ENSP00000445338:G140C;ENSP00000353500:G171C;ENSP00000442457:G131C	ENSP00000346648:G140C	G	-	1	0	CLEC4C	7773590	0.125000	0.22332	0.431000	0.26735	0.043000	0.13939	0.582000	0.23834	1.280000	0.44463	0.561000	0.74099	GGT	.		0.448	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		A	7882323	C	A	7882323	3	1	4	1	0	0	0	0	1	0	0	0	3520	681	24	3	134	3	CLEC4C	12	7882323	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5268308	7882323	125969572	120	370											
A2ML1	144568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8995922	8995922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacatcgacccggccgatGcaagccctgaccaagagatc	9	14	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:8995922G>A	ENST00000299698.7	+	12	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCCGGCCGATGCAAGCCCTGA	0.562																																					p.A481T		.											.	A2ML1-93	0			c.G1441A						.						54	54	54					12																	8995922		1946	4133	6079	SO:0001583	missense	144568	exon12			GCCGATGCAAGCC	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1441G>A	12.37:g.8995922G>A	ENSP00000299698:p.Ala481Thr	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	151	35	NM_144670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	8.774	0.926547	0.18056	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459	T;T	0.30981	1.51;1.64	4.24	1.43	0.22495	Alpha-2-macroglobulin, N-terminal 2 (1);	0.679722	0.12903	N	0.429640	T	0.23014	0.0556	L	0.38838	1.175	0.09310	N	0.999999	P	0.37731	0.607	B	0.43155	0.41	T	0.14282	-1.0478	10	0.33940	T	0.23	.	1.4929	0.02460	0.1884:0.168:0.4705:0.1731	.	481	A8K2U0	A2ML1_HUMAN	T	481;481;31	ENSP00000299698:A481T;ENSP00000443174:A31T	ENSP00000299698:A481T	A	+	1	0	A2ML1	8887189	0.002000	0.14202	0.065000	0.19835	0.001000	0.01503	0.795000	0.26972	0.331000	0.23511	-0.258000	0.10820	GCA	.		0.562	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		A	8995922	G	A	8995922	3	1	4	1	0	0	0	0	1	0	0	0	5	1319	46	3	1487	3	A2ML1	12	8995922	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1113599	8995922	124855973	121	371											
KLRK1	22914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	10541381	10541381	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaaacataccccagctgtgtCgagacctccgaccacgaatc	7	15	0	1	rs375696662		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:10541381C>G	ENST00000240618.6	-	2	169	c.29G>C	c.(28-30)cGa>cCa	p.R10P	KLRK1_ENST00000540818.1_Missense_Mutation_p.R10P|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	10					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CCAGCTGTGTCGAGACCTCCG	0.388																																					p.R10P		.											.	.	0			c.G29C						.						98	89	92					12																	10541381		2203	4300	6503	SO:0001583	missense	0	exon7			CTGTGTCGAGACC	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.29G>C	12.37:g.10541381C>G	ENSP00000240618:p.Arg10Pro	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	87	7	NM_001199805	0	0	0	0	0	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262839	0.23051	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01474	4.85;4.85	3.92	0.0572	0.14322	.	1.508560	0.03947	N	0.287889	T	0.01765	0.0056	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47355	-0.9124	10	0.39692	T	0.17	.	4.4228	0.11488	0.0:0.1157:0.4049:0.4794	.	10;10	Q8WZ67;P26718	.;NKG2D_HUMAN	P	10	ENSP00000240618:R10P;ENSP00000446003:R10P	ENSP00000240618:R10P	R	-	2	0	KLRK1	10432648	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.105000	0.10907	0.001000	0.14605	-0.334000	0.08254	CGA	.		0.388	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		G	10541381	C	G	10541381	3	3	4	1	0	0	0	0	1	0	0	0	8450	884	31	2	649	2	KLRK1	12	10541381	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	1545459	10541381	123310514	122	372											
BCAT1	586	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25002802	25002802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggacactggattaaaggTtccacttgaaaaataaggtc	10	7	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:25002802T>G	ENST00000261192.7	-	6	1118	c.592A>C	c.(592-594)Acc>Ccc	p.T198P	BCAT1_ENST00000539780.1_Missense_Mutation_p.T161P|BCAT1_ENST00000539282.1_Missense_Mutation_p.T210P|BCAT1_ENST00000538118.1_Missense_Mutation_p.T197P|BCAT1_ENST00000342945.5_Missense_Mutation_p.T137P|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	198					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	GGATTAAAGGTTCCACTTGAA	0.478																																					p.T210P		.											.	BCAT1-522	0			c.A628C						.						127	122	123					12																	25002802		1839	4081	5920	SO:0001583	missense	586	exon6			TAAAGGTTCCACT		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.592A>C	12.37:g.25002802T>G	ENSP00000261192:p.Thr198Pro	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	99	37	NM_001178093	0	0	0	0	0	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119533	0.37436	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.33	1.35	0.21983	.	0.807722	0.11659	N	0.542036	T	0.18341	0.0440	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B	0.33318	0.408;0.125;0.254;0.033;0.02	B;B;B;B;B	0.43783	0.431;0.101;0.431;0.162;0.079	T	0.34900	-0.9810	10	0.51188	T	0.08	-18.5331	4.251	0.10695	0.3508:0.1359:0.0:0.5133	.	161;210;137;198;197	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	P	198;197;137;210;161	ENSP00000261192:T198P;ENSP00000440817:T197P;ENSP00000339805:T137P;ENSP00000443459:T210P;ENSP00000440827:T161P	ENSP00000261192:T198P	T	-	1	0	BCAT1	24894069	0.154000	0.22792	0.016000	0.15963	0.983000	0.72400	0.414000	0.21164	-0.022000	0.13986	0.533000	0.62120	ACC	.		0.478	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		G	25002802	T	G	25002802	3	3	4	1	0	0	0	0	1	0	0	0	1355	1725	60	5	592	5	BCAT1	12	25002802	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	14461421	25002802	108849093	123	373											
ITPR2	3709	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	26809287	26809287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcatagcgaacaggcAccacggactcctggggatcc	13	14	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:26809287A>C	ENST00000381340.3	-	19	2803	c.2387T>G	c.(2386-2388)gTg>gGg	p.V796G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	796					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)	GCGAACAGGCACCACGGACTC	0.537																																					p.V796G		.											.	ITPR2-542	0			c.T2387G						.						72	74	74					12																	26809287		1987	4183	6170	SO:0001583	missense	3709	exon19			ACAGGCACCACGG	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.2387T>G	12.37:g.26809287A>C	ENSP00000370744:p.Val796Gly	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	137	40	NM_002223	0	0	0	0	0	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714281	0.48622	.	.	ENSG00000123104	ENST00000381340	D	0.91792	-2.91	4.62	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.88876	0.6556	L	0.36672	1.1	0.80722	D	1	P	0.43885	0.82	P	0.47626	0.552	D	0.88299	0.2948	10	0.62326	D	0.03	.	8.0852	0.30769	0.8421:0.0:0.1579:0.0	.	796	Q14571	ITPR2_HUMAN	G	796	ENSP00000370744:V796G	ENSP00000370744:V796G	V	-	2	0	ITPR2	26700554	0.995000	0.38212	1.000000	0.80357	0.912000	0.54170	3.665000	0.54532	2.059000	0.61396	0.533000	0.62120	GTG	.		0.537	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26809287	A	C	26809287	3	2	4	1	0	0	0	0	1	0	0	0	7948	159	6	5	5874	5	ITPR2	12	26809287	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	1806485	26809287	107042608	124	374											
C12orf35	55196	broad.mit.edu	37	chr12	32135980	32135980	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtgtgataaactcagAacaaacacaacagcagttgg	10	7	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:32135980A>C	ENST00000312561.4	+	4	2505	c.2091A>C	c.(2089-2091)agA>agC	p.R697S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	697																	ATAAACTCAGAACAAACACAA	0.398																																					p.R697S		.											.	.	0			c.A2091C						.						61	55	57					12																	32135980		2203	4300	6503	SO:0001583	missense	55196	exon4			ACTCAGAACAAAC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2091A>C	12.37:g.32135980A>C	ENSP00000310338:p.Arg697Ser	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	56	6	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	8.632	0.893958	0.17613	.	.	ENSG00000174718	ENST00000312561	T	0.12361	2.69	4.89	-0.396	0.12427	.	1.328980	0.04640	N	0.405129	T	0.11750	0.0286	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.34477	-0.9827	9	.	.	.	.	4.2939	0.10892	0.4757:0.3396:0.1847:0.0	.	697	Q9HCM1	CL035_HUMAN	S	697	ENSP00000310338:R697S	.	R	+	3	2	C12orf35	32027247	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.449000	0.21744	-0.219000	0.10003	-0.472000	0.04984	AGA	.		0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32135980	A	C	32135980	3	2	4	1	0	0	0	0	1	0	0	0	1687	243	9	5	2093	5	C12orf35	12	32135980	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	5326693	32135980	101715915	125	375											
C12orf35	55196	broad.mit.edu	37	chr12	32136103	32136103	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacagcagacagctttGtcgatggtaatgcacaatta	8	11	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:32136103G>C	ENST00000312561.4	+	4	2628	c.2214G>C	c.(2212-2214)ttG>ttC	p.L738F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	738																	AGACAGCTTTGTCGATGGTAA	0.388																																					p.L738F		.											.	.	0			c.G2214C						.						70	70	70					12																	32136103		2203	4300	6503	SO:0001583	missense	55196	exon4			AGCTTTGTCGATG	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2214G>C	12.37:g.32136103G>C	ENSP00000310338:p.Leu738Phe	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	69	3	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066665	0.36470	.	.	ENSG00000174718	ENST00000312561	T	0.19250	2.16	5.35	-0.454	0.12197	.	0.338259	0.21728	N	0.070012	T	0.18800	0.0451	L	0.59436	1.845	0.09310	N	1	P	0.51240	0.943	P	0.45310	0.476	T	0.11792	-1.0573	9	.	.	.	.	3.4385	0.07454	0.1383:0.1006:0.4536:0.3075	.	738	Q9HCM1	CL035_HUMAN	F	738	ENSP00000310338:L738F	.	L	+	3	2	C12orf35	32027370	0.096000	0.21769	0.000000	0.03702	0.001000	0.01503	0.848000	0.27710	-0.323000	0.08602	-2.684000	0.00141	TTG	.		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32136103	G	C	32136103	3	2	4	1	0	0	0	0	1	0	0	0	1687	1368	48	3	2216	3	C12orf35	12	32136103	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	123	32136103	101715792	126	376											
ANO6	196527	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	45833607	45833607	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgactttattgactccctCtattatatattttctatttc	2	9	3	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:45833607C>G	ENST00000425752.2	+	20	2978	c.2676C>G	c.(2674-2676)ctC>ctG	p.L892L	ANO6_ENST00000435642.1_Silent_p.L892L	NM_001142679.1	NP_001136151.1	Q4KMQ2	ANO6_HUMAN	anoctamin 6	0					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						ttgactccctctattatatat	0.353																																					p.L892L		.											.	ANO6-516	0			c.C2676G						.						114	93	99					12																	45833607		692	1591	2283	SO:0001819	synonymous_variant	196527	exon20			CTCCCTCTATTAT	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	ENST00000425752.2:c.2676C>G	12.37:g.45833607C>G		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	56	5	NM_001142679	0	0	0	0	0	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000425752.2	37	CCDS44865.1																																																																																			.		0.353	ANO6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404819.1	XM_113743		G	45833607	C	G	45833607	2	3	4	1	0	0	0	0	0	0	0	1	701	900	32	3		3	ANO6	12	45833607	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	13697504	45833607	88018288	127	377											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu	37	chr12	49445206	49445206	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggctcctcaggccgggGggacaggtgcggctcctcag	18	12	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:49445206G>C	ENST00000301067.7	-	10	2259	c.2260C>G	c.(2260-2262)Ccc>Gcc	p.P754A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	754	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAGGCCGGGGGGACAGGTGC	0.692																																					p.P754A		.											.	MLL2-612	0			c.C2260G						.						21	24	23					12																	49445206		1760	3797	5557	SO:0001583	missense	8085	exon10			GCCGGGGGGACAG	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.2260C>G	12.37:g.49445206G>C	ENSP00000301067:p.Pro754Ala	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	46	12	NM_003482	0	0	0	0	0	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681895	0.47991	.	.	ENSG00000167548	ENST00000301067	T	0.38077	1.16	3.68	2.77	0.32553	.	.	.	.	.	T	0.26011	0.0634	N	0.24115	0.695	0.24821	N	0.992589	B	0.29531	0.247	B	0.31191	0.125	T	0.24835	-1.0149	9	0.87932	D	0	.	9.8739	0.41191	0.1057:0.0:0.8942:0.0	.	754	O14686	MLL2_HUMAN	A	754	ENSP00000301067:P754A	ENSP00000301067:P754A	P	-	1	0	MLL2	47731473	0.190000	0.23276	0.008000	0.14137	0.167000	0.22549	0.513000	0.22770	1.109000	0.41680	0.563000	0.77884	CCC	.		0.692	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49445206	G	C	49445206	3	2	4	1	0	0	0	0	1	0	0	0	9659	1232	43	3	14533	3	MLL2	12	49445206	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3611599	49445206	84406689	128	378											
AQP2	359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	50344855	50344855	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggtgggctgccacgTctccgttctccgagccgcct	12	17	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:50344855T>A	ENST00000199280.3	+	1	327	c.242T>A	c.(241-243)gTc>gAc	p.V81D	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	81					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCTGCCACGTCTCCGTTCTC	0.662																																					p.V81D		.											.	AQP2-92	0			c.T242A						.						33	32	32					12																	50344855		2203	4300	6503	SO:0001583	missense	359	exon1			GCCACGTCTCCGT		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.242T>A	12.37:g.50344855T>A	ENSP00000199280:p.Val81Asp	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	131	37	NM_000486	0	0	0	0	0	Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760747	0.69763	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.87103	-2.21;-2.21	4.46	4.46	0.54185	Aquaporin-like (2);	0.121611	0.35378	N	0.003246	D	0.92120	0.7502	M	0.87180	2.865	0.53688	D	0.99997	D	0.56746	0.977	P	0.56398	0.797	D	0.93231	0.6617	10	0.87932	D	0	-37.5479	12.0247	0.53362	0.0:0.0:0.0:1.0	.	81	P41181	AQP2_HUMAN	D	81	ENSP00000199280:V81D;ENSP00000450022:V81D	ENSP00000199280:V81D	V	+	2	0	AQP2	48631122	1.000000	0.71417	0.830000	0.32933	0.875000	0.50365	8.040000	0.89188	1.796000	0.52611	0.533000	0.62120	GTC	.		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		A	50344855	T	A	50344855	3	1	4	1	0	0	0	0	1	0	0	0	826	1667	58	5	244	5	AQP2	12	50344855	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	899649	50344855	83507040	129	379											
OR6C1	390321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	55714972	55714973	+	Missense_Mutation	DNP	GG	GG	TT													caaaattcttagaggtgatgGgattttcttgtgctgcgttt							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:55714972_55714973GG>TT	ENST00000379668.2	+	1	627_628	c.589_590GG>TT	c.(589-591)GGa>TTa	p.G197L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, 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)	p.G197E(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGAGGTGATGGGATTTTCTTGT	0.342																																					p.G197L		.											.	OR6C1-69	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G590T						.																																			SO:0001583	missense	390321	exon1			TGATGGGATTTTC	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	Exception_encountered	12.37:g.55714972_55714973delinsTT	ENSP00000368990:p.Gly197Leu	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	130	10	NM_001005182	0	0	0	0	0	B2RNM0	Missense_Mutation	DNP	ENST00000379668.2	37	CCDS31818.1																																																																																			.		0.342	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		TT	55714973	GG	TT	55714972	3	4	4	1	0	0	0	0	1	0	0	0	11229	1233	43	3	591	3	OR6C1	12	55714972	Missense_Mutation	DNP	GG	TCGA-OR-A5J4-01A-11D-A29I-10	5370117	55714972	78136923	130	380											
CNPY2	10330	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	56705180	56705180	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagctctgtgaggtgggcctCtgagcgggcataaggcacct	15	11	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:56705180C>G	ENST00000273308.4	-	4	763	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	CNPY2_ENST00000551720.1_Splice_Site|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.E75Q|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	75	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AGGTGGGCCTCTGAGCGGGCA	0.473																																					p.E75Q		.											.	CNPY2-68	0			c.G223C						.						118	116	116					12																	56705180		2203	4300	6503	SO:0001583	missense	10330	exon4			GGGCCTCTGAGCG	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.223G>C	12.37:g.56705180C>G	ENSP00000273308:p.Glu75Gln	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	89	26	NM_014255	0	0	0	0	0	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040270	0.75732	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.38	5.38	0.77491	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73366	-0.4005	10	0.87932	D	0	-15.5197	18.277	0.90087	0.0:1.0:0.0:0.0	.	75	Q9Y2B0	CNPY2_HUMAN	Q	75;75;75;23	ENSP00000446743:E75Q;ENSP00000273308:E75Q;ENSP00000448809:E75Q;ENSP00000446784:E23Q	ENSP00000273308:E75Q	E	-	1	0	RP11-977G19.10;CNPY2	54991447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.667000	0.83888	2.695000	0.91970	0.561000	0.74099	GAG	.		0.473	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		G	56705180	C	G	56705180	3	3	4	1	0	0	0	0	1	0	0	0	3635	922	32	3	337	3	CNPY2	12	56705180	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	990208	56705180	77146715	131	381											
NAB2	4665	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57486328	57486329	+	Frame_Shift_Del	DEL	GA	GA	-													tttgtcccgccaagtagcccGagagagcacctacttgtcct							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:57486328_57486329delGA	ENST00000300131.3	+	3	1433_1434	c.1055_1056delGA	c.(1054-1056)cgafs	p.R352fs	NAB2_ENST00000342556.6_Frame_Shift_Del_p.R352fs|NAB2_ENST00000357680.4_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	352	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGTAGCCCGAGAGAGCACCT	0.55																																					p.352_352del		.											.	NAB2-92	0			c.1055_1056del						.																																			SO:0001589	frameshift_variant	4665	exon3			TAGCCCGAGAGAG	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1055_1056delGA	12.37:g.57486332_57486333delGA	ENSP00000300131:p.Arg352fs	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	189	52	NM_005967	0	0	0	0	0	B2RAK3|O76006|Q14797	Frame_Shift_Del	DEL	ENST00000300131.3	37	CCDS8930.1																																																																																			.		0.55	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		-	57486329	GA	-	57486328	7	5	4	1	0	1	0	1	0	0	0	0	10170	1058	37	0	1065	0	NAB2	12	57486328	Frame_Shift_Del	DEL	GA	TCGA-OR-A5J4-01A-11D-A29I-10	781148	57486328	76365567	132	382											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57577207	57577207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtgcatgagggaatcagggGaattcccctggatcccaatg	13	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:57577207G>T	ENST00000243077.3	+	35	6174	c.5708G>T	c.(5707-5709)gGa>gTa	p.G1903V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1903					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)	GGAATCAGGGGAATTCCCCTG	0.542											OREG0021938	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1903V		.											.	LRP1-596	0			c.G5708T						.						127	118	121					12																	57577207		2203	4300	6503	SO:0001583	missense	4035	exon35			TCAGGGGAATTCC	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.5708G>T	12.37:g.57577207G>T	ENSP00000243077:p.Gly1903Val	Somatic	135	0	1024	WXS	Illumina GAIIx	Phase_I	139	26	NM_002332	0	0	0	0	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355536	0.61293	.	.	ENSG00000123384	ENST00000243077	T	0.70631	-0.5	4.68	4.68	0.58851	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.82806	0.5117	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81111	-0.1081	10	0.29301	T	0.29	.	16.5142	0.84295	0.0:0.0:1.0:0.0	.	1903	Q07954	LRP1_HUMAN	V	1903	ENSP00000243077:G1903V	ENSP00000243077:G1903V	G	+	2	0	LRP1	55863474	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.657000	0.98554	2.430000	0.82344	0.561000	0.74099	GGA	.		0.542	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57577207	G	T	57577207	3	4	4	1	0	0	0	0	1	0	0	0	8986	1174	41	3	5846	3	LRP1	12	57577207	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	90879	57577207	76274688	133	383											
C12orf64	283310	broad.mit.edu;bcgsc.ca	37	chr12	80717566	80717566	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaccttgtgctacacCctgttttaaaacatgtagtg	7	8	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:80717566C>G	ENST00000547103.1	+	34	4124	c.4118C>G	c.(4117-4119)cCc>cGc	p.P1373R	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1373R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1373					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						TGTGCTACACCCTGTTTTAAA	0.388																																					p.P1373R		.											.	.	0			c.C4118G						.						122	122	122					12																	80717566		1893	4118	6011	SO:0001583	missense	283310	exon34			CTACACCCTGTTT	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.4118C>G	12.37:g.80717566C>G	ENSP00000447211:p.Pro1373Arg	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	301	9	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030376	0.75504	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.54866	0.55;0.55	5.55	5.55	0.83447	.	.	.	.	.	T	0.71854	0.3389	M	0.75085	2.285	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	7	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	.	.	.	R	1373	ENSP00000447211:P1373R;ENSP00000400895:P1373R	ENSP00000400895:P1373R	P	+	2	0	OTOGL	79241697	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.184000	0.77705	2.610000	0.88304	0.591000	0.81541	CCC	.		0.388	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		G	80717566	C	G	80717566	3	3	4	1	0	0	0	0	1	0	0	0	1712	623	22	3	4252	3	C12orf64	12	80717566	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	23140359	80717566	53134329	134	384											
SLC6A15	55117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	85257275	85257275	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcccatattcacaacactAgctattagcaatgataatag	4	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:85257275A>T	ENST00000266682.5	-	11	2302	c.1761T>A	c.(1759-1761)gcT>gcA	p.A587A	SLC6A15_ENST00000309283.7_Silent_p.A295A|SLC6A15_ENST00000552192.1_Silent_p.A480A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	587					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCACAACACTAGCTATTAGCA	0.328																																					p.A587A		.											.	SLC6A15-93	0			c.T1761A						.						86	92	90					12																	85257275		2203	4297	6500	SO:0001819	synonymous_variant	55117	exon11			AACACTAGCTATT	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1761T>A	12.37:g.85257275A>T		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	328	153	NM_182767	0	0	0	0	0	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	CCDS9026.1																																																																																			.		0.328	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		T	85257275	A	T	85257275	2	4	4	1	0	0	0	0	0	0	0	1	14723	407	15	5		5	SLC6A15	12	85257275	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	4539709	85257275	48594620	135	385											
EEA1	8411	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	93202827	93202827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaagttgtttactcaattCtgtggctctgagctctaaat	7	8	5	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:93202827C>T	ENST00000322349.8	-	18	2569	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	769					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						TTACTCAATTCTGTGGCTCTG	0.363																																					p.E769K		.											.	EEA1-229	0			c.G2305A						.						136	120	125					12																	93202827		2203	4299	6502	SO:0001583	missense	8411	exon18			TCAATTCTGTGGC	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.2305G>A	12.37:g.93202827C>T	ENSP00000317955:p.Glu769Lys	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	62	17	NM_003566	0	0	0	0	0	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816034	0.70912	.	.	ENSG00000102189	ENST00000322349	D	0.84070	-1.8	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000096	T	0.76969	0.4062	L	0.36672	1.1	0.80722	D	1	P	0.39665	0.682	B	0.35182	0.197	T	0.74315	-0.3705	10	0.24483	T	0.36	.	20.1344	0.98019	0.0:1.0:0.0:0.0	.	769	Q15075	EEA1_HUMAN	K	769	ENSP00000317955:E769K	ENSP00000317955:E769K	E	-	1	0	EEA1	91726958	1.000000	0.71417	0.925000	0.36789	0.512000	0.34134	5.999000	0.70665	2.761000	0.94854	0.655000	0.94253	GAA	.		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		T	93202827	C	T	93202827	3	4	4	1	0	0	0	0	1	0	0	0	4935	922	32	3	1978	3	EEA1	12	93202827	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	7945552	93202827	40649068	136	386											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	4	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	3134398	96337225	37514670	137	387											
GPR133	283383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	131593280	131593280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctagaccccctgccaAgtgatggccgtgctcctaca	8	15	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr12:131593280A>T	ENST00000261654.5	+	18	2458	c.1899A>T	c.(1897-1899)caA>caT	p.Q633H	GPR133_ENST00000543617.1_Missense_Mutation_p.Q152H|GPR133_ENST00000376682.4_Missense_Mutation_p.Q319H|GPR133_ENST00000535015.1_Missense_Mutation_p.Q665H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	633					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)		CCCCCTGCCAAGTGATGGCCG	0.572																																					p.Q633H		.											.	GPR133-191	0			c.A1899T						.						216	201	206					12																	131593280		2203	4300	6503	SO:0001583	missense	283383	exon18			CTGCCAAGTGATG	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.1899A>T	12.37:g.131593280A>T	ENSP00000261654:p.Gln633His	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	85	68	NM_198827	0	0	0	0	0	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766747	0.31320	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.82	0.605	0.17553	GPCR, family 2-like (1);	0.255887	0.36066	N	0.002815	T	0.41994	0.1183	L	0.45352	1.415	0.27590	N	0.9493	B;B;P	0.38370	0.089;0.127;0.628	B;B;P	0.50314	0.389;0.357;0.637	T	0.33548	-0.9864	10	0.56958	D	0.05	.	6.1768	0.20449	0.2141:0.2521:0.5338:0.0	.	665;152;633	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	H	633;665;319;152	ENSP00000261654:Q633H;ENSP00000444425:Q665H;ENSP00000365872:Q319H;ENSP00000438021:Q152H	ENSP00000261654:Q633H	Q	+	3	2	GPR133	130159233	1.000000	0.71417	0.349000	0.25694	0.072000	0.16883	1.378000	0.34328	0.068000	0.16574	-0.186000	0.12905	CAA	.		0.572	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		T	131593280	A	T	131593280	3	4	4	1	0	0	0	0	1	0	0	0	6669	69	3	5	1969	5	GPR133	12	131593280	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	35256055	131593280	2258615	138	388											
SUPT16H	11198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21840079	21840079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggctccattagcattcTcattgcccttagtgttggca	10	11	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:21840079T>C	ENST00000216297.2	-	3	622	c.284A>G	c.(283-285)gAg>gGg	p.E95G		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	95					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATTAGCATTCTCATTGCCCTT	0.388																																					p.E95G		.											.	SUPT16H-90	0			c.A284G						.						150	127	135					14																	21840079		2203	4300	6503	SO:0001583	missense	11198	exon3			GCATTCTCATTGC	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.284A>G	14.37:g.21840079T>C	ENSP00000216297:p.Glu95Gly	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	110	39	NM_007192	0	0	0	0	0	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133448	0.94517	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.63428	1.95	0.80722	D	1	P	0.51351	0.944	B	0.43680	0.427	T	0.60627	-0.7226	9	0.38643	T	0.18	-23.588	15.1087	0.72338	0.0:0.0:0.0:1.0	.	95	Q9Y5B9	SP16H_HUMAN	G	95	.	ENSP00000216297:E95G	E	-	2	0	SUPT16H	20909919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.414000	0.80117	2.273000	0.75805	0.482000	0.46254	GAG	.		0.388	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			C	21840079	T	C	21840079	3	2	4	1	0	0	0	0	1	0	0	0	15443	1551	54	4	2955	4	SUPT16H	14	21840079	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10		21840079	85509461	139	389											
LRRC16B	90668	broad.mit.edu;bcgsc.ca	37	chr14	24524508	24524508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcttttggatttcagccaCttggagagccggtaagcaga	11	8	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:24524508C>A	ENST00000342740.5	+	8	748	c.594C>A	c.(592-594)caC>caA	p.H198Q	LRRC16B_ENST00000334420.7_De_novo_Start_InFrame	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	198						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)		ATTTCAGCCACTTGGAGAGCC	0.552																																					p.H198Q		.											.	LRRC16B-139	0			c.C594A						.						119	121	120					14																	24524508		2203	4300	6503	SO:0001583	missense	90668	exon8			CAGCCACTTGGAG	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.594C>A	14.37:g.24524508C>A	ENSP00000340467:p.His198Gln	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	193	9	NM_138360	0	0	0	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214244	0.39102	.	.	ENSG00000186648	ENST00000342740	T	0.18810	2.19	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.74881	2.28	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.18085	-1.0348	10	0.30078	T	0.28	-4.9421	12.873	0.57975	0.0:1.0:0.0:0.0	.	198	Q8ND23	LR16B_HUMAN	Q	198	ENSP00000340467:H198Q	ENSP00000340467:H198Q	H	+	3	2	LRRC16B	23594348	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.306000	0.59117	2.405000	0.81733	0.313000	0.20887	CAC	.		0.552	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24524508	C	A	24524508	3	1	4	1	0	0	0	0	1	0	0	0	9007	564	20	3	624	3	LRRC16B	14	24524508	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	2684429	24524508	82825032	140	390											
CPNE6	9362	broad.mit.edu	37	chr14	24545620	24545620	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcgaatcccccccaacttCgaggtaggctagatgcgagg	12	13	0	1	rs139035718		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:24545620C>T	ENST00000397016.2	+	13	1421	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	CPNE6_ENST00000216775.2_Silent_p.F370F|CPNE6_ENST00000537691.1_Silent_p.F425F	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	370	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCCCAACTTCGAGGTAGGCT	0.597																																					p.F370F		.											.	CPNE6-93	0			c.C1110T						.	C		1,4405	2.1+/-5.4	0,1,2202	110	118	115		1110	-4.4	1	14	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	CPNE6	NM_006032.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		370/558	24545620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9362	exon12			CAACTTCGAGGTA	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1110C>T	14.37:g.24545620C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	106	4	NM_006032	0	0	0	0	0	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	CCDS9607.1																																																																																			C|1.000;T|0.000		0.597	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			T	24545620	C	T	24545620	2	4	4	1	0	0	0	0	0	0	0	1	3823	883	31	1		1	CPNE6	14	24545620	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	21112	24545620	82803920	141	391											
AKAP6	9472	broad.mit.edu	37	chr14	33004880	33004880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacatccacgcagtgcagCtcctctggcaccagcttcga	10	15	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:33004880C>A	ENST00000280979.4	+	3	615	c.445C>A	c.(445-447)Ctc>Atc	p.L149I	AKAP6_ENST00000557354.1_Missense_Mutation_p.L149I|AKAP6_ENST00000557272.1_Missense_Mutation_p.L149I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	149					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGCAGTGCAGCTCCTCTGGCA	0.532																																					p.L149I	Melanoma(49;821 1200 7288 13647 42351)	.											.	AKAP6-733	0			c.C445A						.						122	102	109					14																	33004880		2203	4300	6503	SO:0001583	missense	9472	exon3			GTGCAGCTCCTCT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.445C>A	14.37:g.33004880C>A	ENSP00000280979:p.Leu149Ile	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	210	8	NM_004274	0	0	0	0	0	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964725	0.92791	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.37058	2.48;1.24;1.22	5.8	4.89	0.63831	.	0.090014	0.48286	N	0.000200	T	0.59101	0.2169	M	0.66939	2.045	0.50632	D	0.99988	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.64097	-0.6487	10	0.87932	D	0	-3.4668	16.0172	0.80450	0.1356:0.8644:0.0:0.0	.	149;149	A7E242;Q13023	.;AKAP6_HUMAN	I	149	ENSP00000280979:L149I;ENSP00000450531:L149I;ENSP00000451247:L149I	ENSP00000280979:L149I	L	+	1	0	AKAP6	32074631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.755000	0.62198	1.407000	0.46875	0.591000	0.81541	CTC	.		0.532	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33004880	C	A	33004880	3	1	4	1	0	0	0	0	1	0	0	0	455	797	28	3	451	3	AKAP6	14	33004880	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	8459260	33004880	74344660	142	392											
MIPOL1	145282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	37736243	37736243	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgagaaaagtatgcatcgGaaatccactgaattagttaa	8	6	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:37736243G>T	ENST00000327441.7	+	5	586	c.120G>T	c.(118-120)cgG>cgT	p.R40R	MIPOL1_ENST00000396294.2_Silent_p.R40R|MIPOL1_ENST00000537471.1_Silent_p.R40R|MIPOL1_ENST00000556451.1_Silent_p.R9R|MIPOL1_ENST00000545536.1_Silent_p.R9R|MIPOL1_ENST00000539062.2_Silent_p.R9R|MIPOL1_ENST00000536774.1_Intron	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	40						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)		GTATGCATCGGAAATCCACTG	0.383																																					p.R40R		.											.	MIPOL1-91	0			c.G120T						.						104	100	101					14																	37736243		2203	4300	6503	SO:0001819	synonymous_variant	145282	exon6			GCATCGGAAATCC	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.120G>T	14.37:g.37736243G>T		Somatic	178	0		WXS	Illumina GAIIx	Phase_I	208	68	NM_001195296	0	0	0	0	0	D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	CCDS9664.1																																																																																			.		0.383	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		T	37736243	G	T	37736243	2	4	4	1	0	0	0	0	0	0	0	1	9631	1161	41	3		3	MIPOL1	14	37736243	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	4731363	37736243	69613297	143	393											
FRMD6	122786	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	52187025	52187025	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagctgaaaacctgcagctCaatgaccagtcatggcagct	9	12	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:52187025C>G	ENST00000344768.5	+	11	1473	c.1277C>G	c.(1276-1278)tCa>tGa	p.S426*	FRMD6_ENST00000356218.4_Nonsense_Mutation_p.S418*|FRMD6_ENST00000553556.1_Nonsense_Mutation_p.S68*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.S349*|FRMD6_ENST00000395718.2_Nonsense_Mutation_p.S418*			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	426					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S418L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACCTGCAGCTCAATGACCAGT	0.602																																					p.S426X		.											.	FRMD6-524	1	Substitution - Missense(1)	pancreas(1)	c.C1277G						.						52	51	51					14																	52187025		2203	4300	6503	SO:0001587	stop_gained	122786	exon11			GCAGCTCAATGAC	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1277C>G	14.37:g.52187025C>G	ENSP00000343899:p.Ser426*	Somatic	146	2		WXS	Illumina GAIIx	Phase_I	128	37	NM_001267046	0	0	0	0	0	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Nonsense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	38	7.217961	0.98143	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	418;418;426;349;156;68;68	.	ENSP00000343899:S426X	S	+	2	0	FRMD6	51256775	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.066000	0.71185	2.838000	0.97847	0.591000	0.81541	TCA	.		0.602	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		G	52187025	C	G	52187025	4	3	4	1	0	0	0	0	0	1	0	0	6078	838	29	3	1291	3	FRMD6	14	52187025	Nonsense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	14450782	52187025	55162515	144	394											
TRMT5	145389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	61446459	61446459	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggttgagaatctttttctttGacccaataagaaaataccag	7	7	2	3	rs188092813		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:61446459G>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.Q53E	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)		CTTTTTCTTTGACCCAATAAG	0.413													G|||	1	0.000199681	0	0.0014	5008	,	,		17425	0		0	False		,,,				2504	0				p.Q53E		.											.	TRMT5-91	0			c.C157G						.						114	112	113					14																	61446459		2203	4300	6503	SO:0001631	upstream_gene_variant	57570	exon2			TTCTTTGACCCAA	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.61446459G>C	Exception_encountered	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	116	7	NM_020810	0	0	0	0	0	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.597	0.885961	0.17540	.	.	ENSG00000126814	ENST00000261249;ENST00000553903;ENST00000555420	T	0.22336	1.96	4.59	3.68	0.42216	.	0.156231	0.43110	N	0.000619	T	0.20251	0.0487	L	0.57536	1.79	0.30776	N	0.742507	B	0.15473	0.013	B	0.11329	0.006	T	0.09122	-1.0689	10	0.34782	T	0.22	-18.8881	9.4552	0.38750	0.0:0.1371:0.5837:0.2792	.	53	Q32P41	TRM5_HUMAN	E	53;81;80	ENSP00000261249:Q53E	ENSP00000261249:Q53E	Q	-	1	0	TRMT5	60516212	1.000000	0.71417	0.906000	0.35671	0.123000	0.20343	1.202000	0.32271	1.254000	0.44035	0.655000	0.94253	CAA	G|0.999;C|0.000		0.413	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			C	61446459	G	C	61446459	1	2	4	0	1	0	0	0	0	0	0	0	16615	1299	45	3		3	TRMT5	14	61446459	5'Flank	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	9259434	61446459	45903081	145	395											
YLPM1	56252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	75265522	75265522	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattcagaccagaaccaggAgatggtggggaaaaaatgta	12	7	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:75265522A>G	ENST00000325680.7	+	5	3646	c.3522A>G	c.(3520-3522)ggA>ggG	p.G1174G	YLPM1_ENST00000238571.3_Silent_p.G979G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	979	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGAACCAGGAGATGGTGGGG	0.532																																					p.G1174G		.											.	YLPM1-71	0			c.A3522G						.						67	68	68					14																	75265522		1914	4124	6038	SO:0001819	synonymous_variant	56252	exon5			ACCAGGAGATGGT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3522A>G	14.37:g.75265522A>G		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	115	31	NM_019589	0	0	0	0	0	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	CCDS45135.1																																																																																			.		0.532	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		G	75265522	A	G	75265522	2	3	4	1	0	0	0	0	0	0	0	1	17535	291	11	4		4	YLPM1	14	75265522	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	13819063	75265522	32084018	146	396											
C14orf179	112752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76452154	76452154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggatttgctcgacttggacGaggagcttcgctacagcttg	13	9	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:76452154G>C	ENST00000314067.6	+	1	59	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	IFT43_ENST00000556742.1_Missense_Mutation_p.E9Q|IFT43_ENST00000553338.1_3'UTR|TGFB3_ENST00000556674.1_5'Flank|IFT43_ENST00000238628.6_Missense_Mutation_p.E9Q	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	9					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.E9Q(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGACTTGGACGAGGAGCTTCG	0.672																																					p.E9Q		.											.	IFT43-90	2	Substitution - Missense(2)	lung(2)	c.G25C						.						60	50	54					14																	76452154		2203	4300	6503	SO:0001583	missense	112752	exon1			TTGGACGAGGAGC	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.25G>C	14.37:g.76452154G>C	ENSP00000324177:p.Glu9Gln	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	109	27	NM_001102564	0	0	0	0	0	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725640	0.30593	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.55234	0.58;0.53	4.04	4.04	0.47022	.	0.257343	0.30901	N	0.008660	T	0.65954	0.2741	M	0.78049	2.395	0.37552	D	0.918735	D;D;D;D	0.76494	0.977;0.989;0.989;0.999	P;P;P;D	0.66351	0.673;0.811;0.755;0.943	T	0.68387	-0.5422	10	0.33141	T	0.24	0.0183	7.8262	0.29315	0.112:0.0:0.888:0.0	.	9;9;9;9	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	Q	9	ENSP00000324177:E9Q;ENSP00000238628:E9Q	ENSP00000238628:E9Q	E	+	1	0	IFT43	75521907	1.000000	0.71417	0.995000	0.50966	0.090000	0.18270	4.599000	0.61076	2.241000	0.73720	0.591000	0.81541	GAG	.		0.672	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		C	76452154	G	C	76452154	3	2	4	1	0	0	0	0	1	0	0	0	1767	1059	37	2	27	2	C14orf179	14	76452154	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1186632	76452154	30897386	147	397											
ISM2	145501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	77951057	77951057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtactcaaggttgtgttgGccaatcccggcagcttctgc	13	11	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:77951057G>A	ENST00000342219.4	-	2	403	c.347C>T	c.(346-348)gCc>gTc	p.A116V	ISM2_ENST00000412904.1_Missense_Mutation_p.A116V|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000493585.1_Missense_Mutation_p.A116V|ISM2_ENST00000393684.3_Missense_Mutation_p.A28V	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	116						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTTGTGTTGGCCAATCCCGG	0.627																																					p.A116V		.											.	ISM2-91	0			c.C347T						.						74	71	72					14																	77951057		2203	4300	6503	SO:0001583	missense	145501	exon2			GTGTTGGCCAATC	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.347C>T	14.37:g.77951057G>A	ENSP00000341490:p.Ala116Val	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	196	50	NM_199296	0	0	0	0	0	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408379	0.42715	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000393684;ENST00000493585	T;T;T;T	0.36157	1.76;1.73;2.21;1.27	2.58	2.58	0.30949	.	.	.	.	.	T	0.38054	0.1026	L	0.40543	1.245	0.27909	N	0.938681	D;B;P	0.56035	0.974;0.376;0.956	P;B;B	0.51385	0.668;0.104;0.314	T	0.13818	-1.0495	9	0.39692	T	0.17	.	10.8062	0.46518	0.0:0.0:1.0:0.0	.	116;116;116	Q6H9L7-5;Q6H9L7-2;Q6H9L7	.;.;ISM2_HUMAN	V	116;116;28;116	ENSP00000341490:A116V;ENSP00000416773:A116V;ENSP00000377289:A28V;ENSP00000420452:A116V	ENSP00000341490:A116V	A	-	2	0	ISM2	77020810	1.000000	0.71417	0.983000	0.44433	0.119000	0.20118	2.777000	0.47717	1.734000	0.51633	0.549000	0.68633	GCC	.		0.627	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77951057	G	A	77951057	3	1	4	1	0	0	0	0	1	0	0	0	7888	1203	42	3	1392	3	ISM2	14	77951057	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1498903	77951057	29398483	148	398											
SNW1	22938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	78203387	78203387	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtttagctccagagtTgaatgccactccttgctgag	9	12	1	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr14:78203387T>A	ENST00000261531.7	-	6	627	c.565A>T	c.(565-567)Aac>Tac	p.N189Y	SNW1_ENST00000555761.1_Missense_Mutation_p.N189Y|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.N27Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	189	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTCCAGAGTTGAATGCCACT	0.388																																					p.N189Y		.											.	SNW1-187	0			c.A565T						.						154	138	144					14																	78203387		2203	4300	6503	SO:0001583	missense	22938	exon6			CAGAGTTGAATGC	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.565A>T	14.37:g.78203387T>A	ENSP00000261531:p.Asn189Tyr	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	55	38	NM_012245	0	0	0	0	0	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868993	0.91587	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.98	5.98	0.97165	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.985	D	0.88873	0.3334	9	0.87932	D	0	.	16.4566	0.84019	0.0:0.0:0.0:1.0	.	189;189	G3V3A4;Q13573	.;SNW1_HUMAN	Y	189;27;189;189	.	ENSP00000261531:N189Y	N	-	1	0	SNW1	77273140	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.993000	0.88291	2.293000	0.77203	0.477000	0.44152	AAC	.		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		A	78203387	T	A	78203387	3	1	4	1	0	0	0	0	1	0	0	0	14924	1812	63	5	1081	5	SNW1	14	78203387	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	252330	78203387	29146153	149	399											
ZNF770	54989	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	35275401	35275401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatactacatttaaaaggcaGactatgagttagttgatgcc	8	6	0	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr15:35275401G>A	ENST00000356321.4	-	3	579	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	79					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)		TTAAAAGGCAGACTATGAGTT	0.348																																					p.L79L		.											.	ZNF770-91	0			c.C235T						.						86	86	86					15																	35275401		2201	4298	6499	SO:0001819	synonymous_variant	54989	exon3			AAGGCAGACTATG	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.235C>T	15.37:g.35275401G>A		Somatic	48	1		WXS	Illumina GAIIx	Phase_I	37	19	NM_014106	0	0	0	0	0	Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	CCDS10042.1																																																																																			.		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		A	35275401	G	A	35275401	2	1	4	1	0	0	0	0	0	0	0	1	18191	933	33	3		3	ZNF770	15	35275401	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		35275401	67255991	150	400											
DISP2	85455	hgsc.bcm.edu	37	chr15	40660192	40660192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgggcacggctgtgCtggtgcacctggcgctcacg	14	13	3	0	rs8040755	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225				p.L627L		.											.	DISP2-92	0			c.C1879T						.	C		81,4189		0,81,2054	5	5	5		1879	5.6	1	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455	exon8			GCTGTGCTGGTGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1879C>T	15.37:g.40660192C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_033510	0	0	0	0	0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			C|0.941;T|0.059		0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40660192	C	T	40660192	2	4	4	1	0	0	0	0	0	0	0	1	4554	796	28	3		3	DISP2	15	40660192	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	5384791	40660192	61871200	151	401											
AKAP13	11214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86286897	86286897	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaagataaggggccttttCacatactgagttcaaccagc	8	10	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr15:86286897C>A	ENST00000394518.2	+	36	8328	c.8233C>A	c.(8233-8235)Cac>Aac	p.H2745N	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.H990N|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2749N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2745	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGGCCTTTTCACATACTGAG	0.512																																					p.H2749N	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.C8245A						.						122	123	123					15																	86286897		2202	4299	6501	SO:0001583	missense	11214	exon36			CCTTTTCACATAC	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.8233C>A	15.37:g.86286897C>A	ENSP00000378026:p.His2745Asn	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	103	40	NM_006738	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185435	0.78677	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.27402	2.67;2.7;1.67	5.63	5.63	0.86233	.	.	.	.	.	T	0.55816	0.1944	M	0.65498	2.005	0.44668	D	0.997655	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.52961	-0.8505	9	0.49607	T	0.09	.	18.6746	0.91524	0.0:1.0:0.0:0.0	.	2745;2749	Q12802;Q12802-2	AKP13_HUMAN;.	N	2749;2745;2748;2724;990	ENSP00000354718:H2749N;ENSP00000378026:H2745N;ENSP00000378018:H990N	ENSP00000354718:H2749N	H	+	1	0	AKAP13	84087901	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.035000	0.49759	2.669000	0.90835	0.585000	0.79938	CAC	.		0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86286897	C	A	86286897	3	1	4	1	0	0	0	0	1	0	0	0	449	826	29	3	8441	3	AKAP13	15	86286897	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	45626705	86286897	16244495	152	402											
MAN2A2	4122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	91450636	91450636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcccaagatctgctgccaAtttgatttcaaacgcctgcc	7	13	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr15:91450636A>G	ENST00000559717.1	+	8	1566	c.1107A>G	c.(1105-1107)caA>caG	p.Q369Q	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000360468.3_Silent_p.Q369Q			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	369					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTGCTGCCAATTTGATTTCA	0.567																																					p.Q369Q		.											.	MAN2A2-136	0			c.A1107G						.						86	85	85					15																	91450636		2198	4298	6496	SO:0001819	synonymous_variant	4122	exon7			CTGCCAATTTGAT	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1107A>G	15.37:g.91450636A>G		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	61	28	NM_006122	0	0	0	0	0	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																			.		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		G	91450636	A	G	91450636	2	3	4	1	0	0	0	0	0	0	0	1	9253	98	4	4		4	MAN2A2	15	91450636	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	5163739	91450636	11080756	153	403											
PKD1	5310	broad.mit.edu	37	chr16	2154573	2154573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctctgcctgcaggatgAgcatcatggcctccagcttg	12	12	2	1	rs201238819		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:2154573A>C	ENST00000262304.4	-	22	8295	c.8087T>G	c.(8086-8088)cTc>cGc	p.L2696R	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.L2696R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2696	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		L -> R (in PKD1). {ECO:0000269|PubMed:11316854}.		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)	p.L2696R(3)		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						CTGCAGGATGAGCATCATGGC	0.677																																					p.L2696R		.											.	PKD1-91	3	Substitution - Missense(3)	skin(2)|endometrium(1)	c.T8087G	GRCh37	CM014074	PKD1	M		.						16	12	13					16																	2154573		2107	4184	6291	SO:0001583	missense	5310	exon22			AGGATGAGCATCA	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.8087T>G	16.37:g.2154573A>C	ENSP00000262304:p.Leu2696Arg	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	142	4	NM_000296	0	0	0	0	0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	-	0.355	-0.942715	0.02322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32988	1.43;1.43	4.37	-1.71	0.08133	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.646468	0.16090	N	0.230081	T	0.05181	0.0138	N	0.00347	-1.61	0.20873	N	0.99984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35500	-0.9786	10	0.12430	T	0.62	.	2.3268	0.04224	0.102:0.2587:0.2052:0.4341	.	2696;2696	P98161-3;P98161	.;PKD1_HUMAN	R	2696;2696;2031;975	ENSP00000262304:L2696R;ENSP00000399501:L2696R	ENSP00000262304:L2696R	L	-	2	0	PKD1	2094574	0.916000	0.31088	0.097000	0.21041	0.126000	0.20510	0.857000	0.27831	-0.349000	0.08274	-0.335000	0.08231	CTC	.		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2154573	A	C	2154573	3	2	4	1	0	0	0	0	1	0	0	0	12002	304	11	5	4924	5	PKD1	16	2154573	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10		2154573	88200180	154	404											
MMP25	64386	hgsc.bcm.edu	37	chr16	3108863	3108863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggcgcccactactggCgcttccccaagaacagcatc	9	16	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:3108863C>A	ENST00000336577.4	+	10	1690	c.1453C>A	c.(1453-1455)Cgc>Agc	p.R485S	RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	487					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CCACTACTGGCGCTTCCCCAA	0.701																																					p.R485S	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	.											.	MMP25-226	0			c.C1453A						.						15	18	17					16																	3108863		2182	4288	6470	SO:0001583	missense	64386	exon10			TACTGGCGCTTCC	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1453C>A	16.37:g.3108863C>A	ENSP00000337816:p.Arg485Ser	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_022468	0	0	0	0	0	Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.578322	0.45902	.	.	ENSG00000008516	ENST00000336577	T	0.04360	3.64	4.22	4.22	0.49857	Hemopexin/matrixin (2);	0.140381	0.32852	N	0.005570	T	0.24470	0.0593	M	0.93507	3.425	0.42812	D	0.993967	D	0.65815	0.995	D	0.64321	0.924	T	0.05354	-1.0890	10	0.62326	D	0.03	.	9.5529	0.39321	0.2103:0.7897:0.0:0.0	.	485	Q9NPA2	MMP25_HUMAN	S	485	ENSP00000337816:R485S	ENSP00000337816:R485S	R	+	1	0	MMP25	3048864	0.004000	0.15560	0.999000	0.59377	0.086000	0.17979	-0.040000	0.12104	1.899000	0.54978	0.454000	0.30748	CGC	.		0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		A	3108863	C	A	3108863	3	1	4	1	0	0	0	0	1	0	0	0	9700	768	27	2	1491	2	MMP25	16	3108863	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	954290	3108863	87245890	155	405											
PPL	5493	bcgsc.ca	37	chr16	4935146	4935146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcccgcaccttctcctgCaccaccactttggcgttctc	5	19	3	0	rs1049206	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:4935146C>T	ENST00000345988.2	-	22	3599	c.3510G>A	c.(3508-3510)gtG>gtA	p.V1170V	PPL_ENST00000590782.2_Silent_p.V1168V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1170					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V1170V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTTCTCCTGCACCACCACTT	0.622													C|||	1841	0.367612	0.3359	0.4135	5008	,	,		18711	0.2907		0.3241	False		,,,				2504	0.502				p.V1170V		.											.	PPL-95	1	Substitution - coding silent(1)	stomach(1)	c.G3510A						.	C		1539,2855	487.3+/-360.9	274,991,932	120	110	113		3510	2.1	1	16	dbSNP_86	113	2550,6050	414.9+/-351.6	376,1798,2126	no	coding-synonymous	PPL	NM_002705.4		650,2789,3058	TT,TC,CC		29.6512,35.025,31.4684		1170/1757	4935146	4089,8905	2197	4300	6497	SO:0001819	synonymous_variant	5493	exon22			CTCCTGCACCACC	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.3510G>A	16.37:g.4935146C>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	100	5	NM_002705	0	0	0	0	0	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																			C|0.673;T|0.327		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4935146	C	T	4935146	2	4	4	1	0	0	0	0	0	0	0	1	12376	697	25	3		3	PPL	16	4935146	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	1826283	4935146	85419607	156	406											
TMC7	79905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	19056276	19056276	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctccaagatcacatcctgtGatgatgacacatgtgacctt	8	11	1	5			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:19056276G>C	ENST00000304381.5	+	10	1538	c.1408G>C	c.(1408-1410)Gat>Cat	p.D470H	TMC7_ENST00000569532.1_Missense_Mutation_p.D470H|TMC7_ENST00000421369.3_Missense_Mutation_p.D360H	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	470					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CACATCCTGTGATGATGACAC	0.567																																					p.D470H		.											.	TMC7-93	0			c.G1408C						.						122	111	114					16																	19056276		2197	4300	6497	SO:0001583	missense	79905	exon10			TCCTGTGATGATG	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1408G>C	16.37:g.19056276G>C	ENSP00000304710:p.Asp470His	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	67	27	NM_024847	0	0	0	0	0	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445646	0.25987	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.52526	0.66;0.66	5.41	4.45	0.53987	.	0.826679	0.11221	N	0.586753	T	0.40171	0.1106	L	0.40543	1.245	0.19775	N	0.999954	B;B	0.14805	0.009;0.011	B;B	0.23275	0.028;0.045	T	0.17048	-1.0382	10	0.45353	T	0.12	.	9.2769	0.37705	0.0763:0.1463:0.7774:0.0	.	470;470	Q7Z402;B3KSZ3	TMC7_HUMAN;.	H	470;360	ENSP00000304710:D470H;ENSP00000397081:D360H	ENSP00000304710:D470H	D	+	1	0	TMC7	18963777	0.771000	0.28555	0.832000	0.32986	0.288000	0.27193	2.016000	0.40971	2.525000	0.85131	0.555000	0.69702	GAT	.		0.567	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		C	19056276	G	C	19056276	3	2	4	1	0	0	0	0	1	0	0	0	16037	1290	45	3	1446	3	TMC7	16	19056276	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	14121130	19056276	71298477	157	407											
SCNN1B	6338	broad.mit.edu	37	chr16	23360165	23360165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagctgggaggtcagcgtctCcctctccgtaggcttcaaga	13	12	4	1	rs35731153	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:23360165C>G	ENST00000343070.2	+	2	421	c.245C>G	c.(244-246)tCc>tGc	p.S82C	SCNN1B_ENST00000568085.1_Missense_Mutation_p.S82C|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Missense_Mutation_p.S127C|SCNN1B_ENST00000568923.1_Missense_Mutation_p.S82C	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	82			S -> C (in BESC1; dbSNP:rs35731153). {ECO:0000269|PubMed:16207733, ECO:0000269|PubMed:18507830}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTCAGCGTCTCCCTCTCCGTA	0.607													C|||	4	0.000798722	0	0.0029	5008	,	,		15592	0		0.001	False		,,,				2504	0.001				p.S82C		.											.	SCNN1B-157	0			c.C245G	GRCh37	CM055537	SCNN1B	M	rs35731153	.	C	CYS/SER	14,4380	20.2+/-43.8	0,14,2183	85	71	76	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	245	5	1	16	dbSNP_126	76	69,8531	41.7+/-99.0	0,69,4231	yes	missense	SCNN1B	NM_000336.2	112	0,83,6414	GG,GC,CC		0.8023,0.3186,0.6388	probably-damaging	82/641	23360165	83,12911	2197	4300	6497	SO:0001583	missense	6338	exon2			GCGTCTCCCTCTC	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.245C>G	16.37:g.23360165C>G	ENSP00000345751:p.Ser82Cys	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	125	3	NM_000336	0	0	0	0	0	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.8	4.050778	0.75960	0.003186	0.008023	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.65916	-0.18;-0.18	5.01	5.01	0.66863	.	0.251063	0.33610	N	0.004723	T	0.72399	0.3455	M	0.79475	2.455	0.45762	A	0.998652	D	0.69078	0.997	P	0.62649	0.905	T	0.80663	-0.1282	9	0.87932	D	0	-5.1436	17.3103	0.87207	0.0:1.0:0.0:0.0	rs35731153;rs61729787	82	P51168	SCNNB_HUMAN	C	82;127	ENSP00000345751:S82C;ENSP00000302874:S127C	ENSP00000302874:S127C	S	+	2	0	SCNN1B	23267666	0.997000	0.39634	1.000000	0.80357	0.949000	0.60115	5.745000	0.68672	2.315000	0.78130	0.561000	0.74099	TCC	C|0.995;G|0.005		0.607	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			G	23360165	C	G	23360165	3	3	4	1	0	0	0	0	1	0	0	0	13973	855	30	3	247	3	SCNN1B	16	23360165	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	4303889	23360165	66994588	158	408											
ALDOA	226	bcgsc.ca	37	chr16	30081476	30081476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaagtacactccgagCggtcaggctggggctgctgc	15	11	1	0	rs77290575	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:30081476C>T	ENST00000566897.1	+	12	2190	c.1038C>T	c.(1036-1038)agC>agT	p.S346S	ALDOA_ENST00000395240.3_Silent_p.S350S|ALDOA_ENST00000569545.1_Silent_p.S346S|ALDOA_ENST00000563060.2_Silent_p.S346S|ALDOA_ENST00000564546.1_Silent_p.S346S|ALDOA_ENST00000569798.1_3'UTR|ALDOA_ENST00000395248.1_Silent_p.S400S|ALDOA_ENST00000412304.2_Silent_p.S346S|ALDOA_ENST00000338110.5_Silent_p.S346S|ALDOA_ENST00000564595.2_Silent_p.S400S			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	346					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ACACTCCGAGCGGTCAGGCTG	0.627													C|||	106	0.0211661	0.0015	0.1412	5008	,	,		17315	0.006		0	False		,,,				2504	0				p.S400S		.											.	ALDOA-226	0			c.C1200T						.	C	,,,	6,4388	11.4+/-27.6	0,6,2191	75	67	70		1038,1038,1038,1038	-0.3	1	16	dbSNP_132	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ALDOA	NM_000034.3,NM_001127617.2,NM_184041.2,NM_184043.2	,,,	0,9,6488	TT,TC,CC		0.0349,0.1365,0.0693	,,,	346/365,346/365,346/365,346/365	30081476	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	226	exon10			TCCGAGCGGTCAG	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.1038C>T	16.37:g.30081476C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	110	5	NM_001243177	0	0	0	0	0	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	CCDS10668.1																																																																																			C|0.994;T|0.006		0.627	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		T	30081476	C	T	30081476	2	4	4	1	0	0	0	0	0	0	0	1	507	767	27	1		1	ALDOA	16	30081476	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	6721311	30081476	60273277	159	409											
CTRL	1506	ucsc.edu;bcgsc.ca	37	chr16	67965099	67965099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtttgatggcaggaatgcCgcagcctggccattgggcta	15	10	0	1	rs140026167	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:67965099C>T	ENST00000574481.1	-	2	619	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	CTC-479C5.12_ENST00000573493.1_Intron|CTRL_ENST00000576408.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	20					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCAGGAATGCCGCAGCCTGGC	0.612													C|||	42	0.00838658	0.0295	0.0043	5008	,	,		19226	0		0	False		,,,				2504	0				p.G20S		.											.	CTRL-90	0			c.G58A						.	C	SER/GLY	84,4312	72.0+/-110.0	1,82,2115	63	49	54		58	2.9	0.1	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CTRL	NM_001907.2	56	1,84,6413	TT,TC,CC		0.0233,1.9108,0.6617	probably-damaging	20/265	67965099	86,12910	2198	4300	6498	SO:0001583	missense	1506	exon2			GAATGCCGCAGCC		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.58G>A	16.37:g.67965099C>T	ENSP00000458537:p.Gly20Ser	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	147	37	NM_001907	0	0	0	0	0		Missense_Mutation	SNP	ENST00000574481.1	37	CCDS10852.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	23.0	4.365655	0.82463	0.019108	2.33E-4	ENSG00000141086	ENST00000319955	.	.	.	4.86	2.88	0.33553	Peptidase cysteine/serine, trypsin-like (1);	0.415493	0.25472	N	0.030421	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999997	D	0.53462	0.96	P	0.56751	0.805	T	0.36866	-0.9730	9	0.72032	D	0.01	.	9.3066	0.37878	0.1448:0.7792:0.0:0.076	.	20	P40313	CTRL_HUMAN	S	20	.	ENSP00000322629:G20S	G	-	1	0	CTRL	66522600	0.986000	0.35501	0.076000	0.20297	0.048000	0.14542	2.919000	0.48836	0.465000	0.27167	0.655000	0.94253	GGC	C|0.994;T|0.006		0.612	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			T	67965099	C	T	67965099	3	4	4	1	0	0	0	0	1	0	0	0	4037	652	23	1	760	1	CTRL	16	67965099	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	37883623	67965099	22389654	160	410											
RPL13	6137	hgsc.bcm.edu	37	chr16	89627671	89627671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcgcgccgcatcgcCccgcgccccgcgtcgggtcc	14	21	0	0	rs174035	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000452368.3_Silent_p.A47A|RPL13_ENST00000567815.1_Silent_p.A47A|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3	4	3		141,141	0.9	1	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001243131	0	0	0	0	0	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627671	C	T	89627671	2	4	4	1	0	0	0	0	0	0	0	1	13604	610	22	3		3	RPL13	16	89627671	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	21662572	89627671	727082	161	411											
MC1R	4157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89985902	89985902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtactgcttcatctgctGcctggccttgtcggacctgc	10	14	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr16:89985902G>A	ENST00000555147.1	+	1	1616	c.236G>A	c.(235-237)tGc>tAc	p.C79Y	TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.C79Y|TUBB3_ENST00000556922.1_Missense_Mutation_p.C79Y|RP11-566K11.4_ENST00000554623.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	79					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TTCATCTGCTGCCTGGCCTTG	0.662									Melanoma, Familial Clustering of																												p.C79Y		.											.	.	0			c.G236A						.						59	70	66					16																	89985902		2190	4281	6471	SO:0001583	missense	4157	exon1	Familial Cancer Database		TCTGCTGCCTGGC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.236G>A	16.37:g.89985902G>A	ENSP00000451605:p.Cys79Tyr	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	123	57	NM_002386	0	0	0	0	0	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582047	0.86748	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.02944	4.1;4.1;4.1	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000825	T	0.21347	0.0514	M	0.91717	3.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.06917	-1.0800	9	.	.	.	.	16.9746	0.86309	0.0:0.0:1.0:0.0	.	79	Q01726	MSHR_HUMAN	Y	79	ENSP00000451760:C79Y;ENSP00000451560:C79Y;ENSP00000451605:C79Y	.	C	+	2	0	MC1R;RP11-566K11.2	88513403	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.759000	0.85235	2.255000	0.74692	0.455000	0.32223	TGC	.		0.662	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		A	89985902	G	A	89985902	3	1	4	1	0	0	0	0	1	0	0	0	9401	1319	46	3	238	3	MC1R	16	89985902	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	358231	89985902	368851	162	412											
FXR2	9513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7499311	7499311	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccaactgcttgcttGtctgaaaggaaaagtcactg	10	10	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr17:7499311G>T	ENST00000250113.7	-	8	996	c.662C>A	c.(661-663)aCa>aAa	p.T221K		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	221						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTGCTTGCTTGTCTGAAAGGA	0.498																																					p.T221K		.											.	.	0			c.C662A						.						128	123	125					17																	7499311		2033	4187	6220	SO:0001630	splice_region_variant	9513	exon8			TTGCTTGTCTGAA	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.661-1C>A	17.37:g.7499311G>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	99	40	NM_004860	0	0	0	0	0	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025929	0.75390	.	.	ENSG00000129245	ENST00000250113	T	0.37235	1.21	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.36672	1.1	0.58432	D	0.999994	B;B	0.25390	0.125;0.077	B;B	0.20955	0.032;0.032	T	0.06770	-1.0808	10	0.56958	D	0.05	6.4649	10.5922	0.45316	0.0875:0.0:0.9125:0.0	.	221;221	Q86V09;P51116	.;FXR2_HUMAN	K	221	ENSP00000250113:T221K	ENSP00000250113:T221K	T	-	2	0	FXR2	7440036	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.684000	0.54671	2.719000	0.93026	0.555000	0.69702	ACA	.		0.498	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		Missense_Mutation	T	7499311	G	T	7499311	5	4	4	1	0	0	0	0	0	0	1	0	6140	1391	48	3	1299	3	FXR2	17	7499311	Splice_Site	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		7499311	73695899	163	413											
SPHK1	8877	hgsc.bcm.edu;bcgsc.ca	37	chr17	74383432	74383434	+	In_Frame_Del	DEL	AGA	AGA	-													gcgcctcttcctggccatggAgaagggcaggcatatggagt							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr17:74383432_74383434delAGA	ENST00000545180.1	+	8	1729_1731	c.920_922delAGA	c.(919-924)gagaag>gag	p.K308del	SPHK1_ENST00000592299.1_In_Frame_Del_p.K308del|SPHK1_ENST00000323374.4_In_Frame_Del_p.K394del|SPHK1_ENST00000590959.1_In_Frame_Del_p.K322del|SPHK1_ENST00000392496.3_In_Frame_Del_p.K308del			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	308					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CTGGCCATGGAGAAGGGCAGGCA	0.601																																					p.393_394del	GBM(90;966 1307 27369 33775 44498)	.											.	SPHK1-1107	0			c.1178_1180del						.																																			SO:0001651	inframe_deletion	8877	exon6			CCATGGAGAAGGG	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.920_922delAGA	17.37:g.74383432_74383434delAGA	ENSP00000440970:p.Lys308del	Somatic	231	1		WXS	Illumina GAIIx	Phase_I	163	0	NM_182965	0	0	0	0	0	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	In_Frame_Del	DEL	ENST00000545180.1	37	CCDS45785.1																																																																																			.		0.601	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		-	74383434	AGA	-	74383432	7	5	4	1	0	1	0	1	0	0	0	0	15093	304	11	0	1242	0	SPHK1	17	74383432	In_Frame_Del	DEL	AGA	TCGA-OR-A5J4-01A-11D-A29I-10	66884121	74383432	6811778	164	414											
OSBPL1A	114876	ucsc.edu	37	chr18	21883679	21883679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgttggcatgactgtgCtttctgcaaaaaaagaaaag	10	7	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr18:21883679C>A	ENST00000319481.3	-	14	1302	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	OSBPL1A_ENST00000357041.4_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	366					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATGACTGTGCTTTCTGCAAA	0.318																																					p.A366S		.											.	OSBPL1A-94	0			c.G1096T						.						126	122	123					18																	21883679		2203	4300	6503	SO:0001583	missense	114876	exon14			ACTGTGCTTTCTG	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1096G>T	18.37:g.21883679C>A	ENSP00000320291:p.Ala366Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	39	4	NM_080597	0	0	0	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563390	0.86335	.	.	ENSG00000141447	ENST00000319481	T	0.47869	0.83	5.63	5.63	0.86233	.	0.427194	0.26594	N	0.023504	T	0.65481	0.2695	L	0.49455	1.56	0.80722	D	1	D;D	0.63880	0.978;0.993	P;D	0.72625	0.649;0.978	T	0.65734	-0.6096	10	0.66056	D	0.02	-12.2	19.2513	0.93926	0.0:1.0:0.0:0.0	.	366;366	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	S	366	ENSP00000320291:A366S	ENSP00000320291:A366S	A	-	1	0	OSBPL1A	20137677	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.881000	0.63114	2.647000	0.89833	0.591000	0.81541	GCA	.		0.318	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		A	21883679	C	A	21883679	3	1	4	1	0	0	0	0	1	0	0	0	11316	797	28	3	1816	3	OSBPL1A	18	21883679	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		21883679	56193569	165	415											
KIAA1632	57724	hgsc.bcm.edu;broad.mit.edu	37	chr18	43508849	43508849	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttaccattccaacctggtCaatggtctcttgaactctat	5	12	4	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr18:43508849C>T	ENST00000282041.5	-	13	2573	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	847					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAACCTGGTCAATGGTCTCT	0.398																																					p.D847N		.											.	EPG5-580	0			c.G2539A						.						104	96	98					18																	43508849		1845	4099	5944	SO:0001583	missense	57724	exon13			CCTGGTCAATGGT	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2539G>A	18.37:g.43508849C>T	ENSP00000282041:p.Asp847Asn	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_020964	0	0	0	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576242	0.65878	.	.	ENSG00000152223	ENST00000282041	T	0.11495	2.77	6.17	6.17	0.99709	.	1.026280	0.07656	N	0.932774	T	0.20414	0.0491	L	0.38531	1.155	0.45194	D	0.9982	P;P	0.46142	0.873;0.873	P;P	0.47346	0.544;0.544	T	0.21552	-1.0242	10	0.52906	T	0.07	-20.6854	20.8794	0.99867	0.0:1.0:0.0:0.0	.	847;847	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	847	ENSP00000282041:D847N	ENSP00000282041:D847N	D	-	1	0	EPG5	41762847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.832000	0.62759	2.941000	0.99782	0.655000	0.94253	GAC	.		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		T	43508849	C	T	43508849	3	4	4	1	0	0	0	0	1	0	0	0	8276	826	29	3	5328	3	KIAA1632	18	43508849	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	21625170	43508849	34568399	166	416											
RAX	30062	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	56939705	56939706	+	Frame_Shift_Ins	INS	-	-	T													ctcatgcagctggtacgtggINStgaaagtcgtgcggttccgc							TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr18:56939705_56939706insT	ENST00000334889.3	-	2	616_617	c.430_431insA	c.(430-432)accfs	p.T144fs	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	144					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CTGGTACGTGGTGAAAGTCGTG	0.644																																					p.T144fs	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.431_432insA						.																																			SO:0001589	frameshift_variant	30062	exon2			TACGTGGTGAAAG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.431dupA	18.37:g.56939706_56939706dupT	ENSP00000334813:p.Thr144fs	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	151	55	NM_013435	0	0	0	0	0	Q86V11	Frame_Shift_Ins	INS	ENST00000334889.3	37	CCDS11972.1																																																																																			.		0.644	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			T	56939706	-	T	56939705	7	5	4	1	0	1	1	0	0	0	0	0	13141	1261	44	0	617	0	RAX	18	56939705	Frame_Shift_Ins	INS	-	TCGA-OR-A5J4-01A-11D-A29I-10	13430856	56939705	21137543	167	417											
MADCAM1	8174	bcgsc.ca	37	chr19	501714	501714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccgacaccacctcccCggagtctcccgacaccacct	6	23	1	0	rs78071082	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																					p.P238Q		.											.	MADCAM1-90	0			c.C713A						.						27	42	37					19																	501714		2202	4299	6501	SO:0001583	missense	8174	exon4			CCTCCCCGGAGTC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	233	16	NM_130760	0	0	0	0	0	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG	A|0.000;C|1.000;T|0.000		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501714	C	A	501714	3	1	4	1	0	0	0	0	1	0	0	0	9187	652	23	2	727	2	MADCAM1	19	501714	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		501714	58627269	168	418											
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	8604874	8604874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggcgccccttcttgtctCcatccagcttctcggggaag	12	14	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:8604874C>T	ENST00000338257.8	-	16	1916	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	550	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTTCTTGTCTCCATCCAGCTT	0.622																																					p.G550E		.											.	MYO1F-93	0			c.G1649A						.						40	43	42					19																	8604874		1904	4119	6023	SO:0001583	missense	4542	exon16			TTGTCTCCATCCA	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1649G>A	19.37:g.8604874C>T	ENSP00000344871:p.Gly550Glu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	69	12	NM_012335	0	0	0	0	0	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	8.260	0.811026	0.16537	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.86432	-2.12	5.01	-4.21	0.03812	Myosin head, motor domain (2);	0.547159	0.17443	N	0.174047	T	0.68943	0.3056	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.59354	-0.7470	10	0.06099	T	0.92	.	8.469	0.32973	0.137:0.472:0.3911:0.0	.	550	O00160	MYO1F_HUMAN	E	595;550	ENSP00000344871:G550E	ENSP00000304899:G595E	G	-	2	0	MYO1F	8510874	0.000000	0.05858	0.085000	0.20634	0.917000	0.54804	0.379000	0.20585	-0.706000	0.05028	-1.058000	0.02302	GGA	.		0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8604874	C	T	8604874	3	4	4	1	0	0	0	0	1	0	0	0	10111	855	30	3	1699	3	MYO1F	19	8604874	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	8103160	8604874	50524109	169	419											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13319693	13319693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	25	4	0	0	rs16051	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	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.6657T>C	19.37:g.13319693A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	4	1	0	0	0	0	0	0	0	1	2545	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	4714819	13319693	45809290	170	420											
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704002	29704002	+	Silent	SNP	T	T	C													aggacgggcgcgaacgggccTgagcgggatgctaccgacaa					rs11666764	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1	2	2					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704002	T	C	29704002	2	2	4	1	0	0	0	0	0	0	0	1	17070	1567	55	4		4	UQCRFS1	19	29704002	Silent	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	16384309	29704002	29424981	171	421	8	2									
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C													cgcgaacgggcctgagcgggAtgctaccgacaacatggcga					rs8100724	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1	2	2					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704010	A	C	29704010	3	2	4	1	0	0	0	0	1	0	0	0	17070	333	12	5	816	5	UQCRFS1	19	29704010	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	8	29704010	29424973	172	422	8	2									
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	4	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	3463445	33167455	25961528	173	423											
ZNF296	162979	hgsc.bcm.edu	37	chr19	45579614	45579614	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actcggcggggcgcgctgccGgccttgcggcgggacatgag	19	13	0	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:45579614G>C	ENST00000303809.2	-	1	232	c.18C>G	c.(16-18)gcC>gcG	p.A6A	GEMIN7_ENST00000591607.1_5'Flank|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_5'Flank|GEMIN7_ENST00000270257.4_5'Flank|GEMIN7_ENST00000391951.2_5'Flank	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	6					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCGCGCTGCCGGCCTTGCGGC	0.751																																					p.A6A		.											.	ZNF296-90	0			c.C18G						.						12	15	14					19																	45579614		1890	3737	5627	SO:0001819	synonymous_variant	162979	exon1			GCTGCCGGCCTTG	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.18C>G	19.37:g.45579614G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_145288	0	0	0	0	0		Silent	SNP	ENST00000303809.2	37	CCDS12653.1																																																																																			.		0.751	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		C	45579614	G	C	45579614	2	2	4	1	0	0	0	0	0	0	0	1	17876	1103	39	2		2	ZNF296	19	45579614	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	12412159	45579614	13549369	174	424											
SYMPK	8189	broad.mit.edu	37	chr19	46321272	46321272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccccccaggcgggggTacatggtcagggactggatg	17	11	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:46321272T>G	ENST00000245934.7	-	23	3270	c.3026A>C	c.(3025-3027)tAc>tCc	p.Y1009S	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1009					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGCGGGGGTACATGGTCAG	0.637																																					p.Y1009S		.											.	SYMPK-91	0			c.A3026C						.						46	38	41					19																	46321272		2196	4295	6491	SO:0001583	missense	8189	exon23			CGGGGGTACATGG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3026A>C	19.37:g.46321272T>G	ENSP00000245934:p.Tyr1009Ser	Somatic	85	9		WXS	Illumina GAIIx	Phase_I	118	23	NM_004819	0	0	0	0	0	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683927	0.88639	.	.	ENSG00000125755	ENST00000245934	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.83582	0.0118	10	0.72032	D	0.01	.	13.295	0.60292	0.0:0.0:0.0:1.0	.	1009	Q92797	SYMPK_HUMAN	S	1009	ENSP00000245934:Y1009S	ENSP00000245934:Y1009S	Y	-	2	0	SYMPK	51013112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.039000	0.60335	0.454000	0.30748	TAC	.		0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		G	46321272	T	G	46321272	3	3	4	1	0	0	0	0	1	0	0	0	15486	1638	57	5	818	5	SYMPK	19	46321272	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	741658	46321272	12807711	175	425											
SPHK2	56848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49131974	49131974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgacctgttgctcaaCtgctcactgttgctgtgccg	11	14	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:49131974C>G	ENST00000245222.4	+	7	1275	c.909C>G	c.(907-909)aaC>aaG	p.N303K	SPHK2_ENST00000598088.1_Missense_Mutation_p.N303K|SPHK2_ENST00000600537.1_Missense_Mutation_p.N244K|SPHK2_ENST00000443164.1_Missense_Mutation_p.N365K|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599029.1_Missense_Mutation_p.N267K|SPHK2_ENST00000599748.1_Missense_Mutation_p.N267K	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	303	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGTTGCTCAACTGCTCACTGT	0.617																																					p.N303K		.											.	SPHK2-658	0			c.C909G						.						81	77	78					19																	49131974		2203	4300	6503	SO:0001583	missense	56848	exon7			GCTCAACTGCTCA	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.909C>G	19.37:g.49131974C>G	ENSP00000245222:p.Asn303Lys	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	161	39	NM_020126	0	0	0	0	0	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773470	0.49786	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000443164	T;T	0.12672	2.66;2.66	4.13	-0.434	0.12283	Diacylglycerol kinase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	L	0.56280	1.765	0.80722	D	1	B;D;D	0.56746	0.004;0.977;0.958	B;P;P	0.51324	0.027;0.666;0.575	T	0.02797	-1.1109	10	0.42905	T	0.14	-24.1036	8.0298	0.30459	0.0:0.6128:0.0:0.3872	.	244;365;303	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	K	303;276;365	ENSP00000245222:N303K;ENSP00000413369:N365K	ENSP00000245222:N303K	N	+	3	2	SPHK2	53823786	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.437000	0.34991	0.160000	0.19432	-0.140000	0.14226	AAC	.		0.617	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			G	49131974	C	G	49131974	3	3	4	1	0	0	0	0	1	0	0	0	15094	564	20	3	931	3	SPHK2	19	49131974	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	2810702	49131974	9997009	176	426											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	4	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	32978	49164952	9964031	177	427											
KCNA7	3743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	49573389	49573389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagctcaggtacctccccGtccaccagccccccattggc	9	19	1	0	rs145070146		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:49573389G>A	ENST00000221444.1	-	2	1657	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	434					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GTACCTCCCCGTCCACCAGCC	0.622																																					p.D434D	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7-90	0			c.C1302T						.	G		0,4406		0,0,2203	75	71	72		1302	-0.8	0	19	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNA7	NM_031886.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		434/457	49573389	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3743	exon2			CTCCCCGTCCACC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1302C>T	19.37:g.49573389G>A		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	192	39	NM_031886	0	0	0	0	0	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			G|1.000;A|0.000		0.622	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		A	49573389	G	A	49573389	2	1	4	1	0	0	0	0	0	0	0	1	8035	1136	40	1		1	KCNA7	19	49573389	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	408437	49573389	9555594	178	428											
KLK7	5650	hgsc.bcm.edu;bcgsc.ca	37	chr19	51485656	51485656	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagggatcttgccatGgtgccctgctgagccgctca	14	11	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:51485656G>T	ENST00000391807.1	-	0	101				KLK7_ENST00000595638.1_5'UTR|KLK7_ENST00000597707.1_Intron|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000595820.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7						epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ATCTTGCCATGGTGCCCTGCT	0.597																																					p.H43N		.											.	KLK7-650	0			c.C127A						.						45	36	39					19																	51485656		2203	4298	6501	SO:0001623	5_prime_UTR_variant	5650	exon2			TGCCATGGTGCCC	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.-1C>A	19.37:g.51485656G>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_001243126	0	0	0	0	0	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1																																																																																			.		0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		T	51485656	G	T	51485656	1	4	4	0	1	0	0	0	0	0	0	0	8436	1363	47	3		3	KLK7	19	51485656	5'UTR	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1912267	51485656	7643327	179	429											
LILRA1	11024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	55105904	55105904	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagggaactctcttccAgggctgagtctgggcccccg	12	15	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:55105904A>G	ENST00000251372.3	+	3	216		c.e3-1		LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRA1_ENST00000453777.1_Splice_Site	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTCTCTTCCAGGGCTGAGTC	0.652																																					.		.											.	LILRA1-93	0			c.35-2A>G						.						69	82	77					19																	55105904		2203	4300	6503	SO:0001630	splice_region_variant	11024	exon3			TCTTCCAGGGCTG	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.35-1A>G	19.37:g.55105904A>G		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	188	27	NM_006863	0	0	0	0	0	O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234711	0.09969	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	.	.	.	2.42	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0728	0.25187	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LILRA1	59797716	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	1.233000	0.32648	1.082000	0.41137	0.163000	0.16589	.	.		0.652	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Intron	G	55105904	A	G	55105904	5	3	4	1	0	0	0	0	0	0	1	0	8813	202	7	4	39	4	LILRA1	19	55105904	Splice_Site	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	3620248	55105904	4023079	180	430											
LILRB1	10859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55144484	55144484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacagttctatgacagaGtctccctctcggtgcagccg	11	13	3	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:55144484G>T	ENST00000396331.1	+	8	1333	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	LILRB1_ENST00000396321.2_Missense_Mutation_p.V326F|LILRB1_ENST00000448689.1_Missense_Mutation_p.V326F|LILRB1_ENST00000418536.2_Missense_Mutation_p.V326F|LILRB1_ENST00000396327.3_Missense_Mutation_p.V326F|LILRB1_ENST00000396315.1_Missense_Mutation_p.V326F|LILRB1_ENST00000427581.2_Missense_Mutation_p.V362F|LILRB1_ENST00000324602.7_Missense_Mutation_p.V326F|LILRB1_ENST00000396317.1_Missense_Mutation_p.V326F|LILRB1_ENST00000434867.2_Missense_Mutation_p.V326F|LILRB1_ENST00000396332.4_Missense_Mutation_p.V326F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	326	Ig-like C2-type 4.				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)		CTATGACAGAGTCTCCCTCTC	0.607										HNSCC(37;0.09)																											p.V326F		.											.	LILRB1-137	0			c.G976T						.						54	57	56					19																	55144484		2203	4300	6503	SO:0001583	missense	10859	exon7			GACAGAGTCTCCC	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.976G>T	19.37:g.55144484G>T	ENSP00000379622:p.Val326Phe	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	184	41	NM_001081637	0	0	0	0	0	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	6.207	0.406391	0.11754	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00745	5.75;5.75;5.75;5.75;5.75;5.75;5.75;5.75;5.75;5.75;5.75	2.25	2.25	0.28309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35040	N	0.003485	T	0.01287	0.0042	L	0.38531	1.155	0.09310	N	1	P;P;P;B;P	0.37083	0.581;0.481;0.581;0.352;0.537	B;B;B;B;P	0.47705	0.436;0.309;0.436;0.309;0.555	T	0.44544	-0.9321	10	0.87932	D	0	.	6.8213	0.23859	0.0:0.7058:0.2942:0.0	.	326;326;326;326;326	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	326;326;326;326;326;326;326;326;362;326;326	ENSP00000379614:V326F;ENSP00000391514:V326F;ENSP00000409968:V326F;ENSP00000379622:V326F;ENSP00000379618:V326F;ENSP00000315997:V326F;ENSP00000405243:V326F;ENSP00000379623:V326F;ENSP00000395004:V362F;ENSP00000379610:V326F;ENSP00000379608:V326F	ENSP00000315997:V326F	V	+	1	0	LILRB1	59836296	0.000000	0.05858	0.042000	0.18584	0.006000	0.05464	-0.934000	0.03955	0.291000	0.22468	-0.980000	0.02579	GTC	.		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			T	55144484	G	T	55144484	3	4	4	1	0	0	0	0	1	0	0	0	8819	1029	36	3	998	3	LILRB1	19	55144484	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	38580	55144484	3984499	181	431											
KIR2DL1	3811	broad.mit.edu;ucsc.edu	37	chr19	55286648	55286648	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttctctctcagcccaGctgggccccacggttctggc	9	17	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:55286648G>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.Q134H|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.Q134H|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTCAGCCCAGCTGGGCCCCA	0.557																																					p.Q134H		.											.	KIR2DL1-90	0			c.G402T						.						71	59	63					19																	55286648		1942	3923	5865	SO:0001627	intron_variant	3802	exon4			AGCCCAGCTGGGC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42341G>T	19.37:g.55286648G>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	60	9	NM_014218	0	0	0	0	0	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	G	11.64	1.697492	0.30142	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00753	5.74;5.74	0.929	0.929	0.19449	.	.	.	.	.	T	0.01976	0.0062	M	0.64404	1.975	0.09310	N	1	B;D	0.71674	0.09;0.998	B;P	0.57204	0.034;0.815	T	0.48896	-0.8994	9	0.87932	D	0	.	5.2086	0.15304	0.0:0.0:1.0:0.0	.	134;134	Q6IST4;Q6H2H3	.;.	H	134	ENSP00000336769:Q134H;ENSP00000291633:Q134H	ENSP00000291633:Q134H	Q	+	3	2	KIR2DL1	59978460	0.002000	0.14202	0.004000	0.12327	0.112000	0.19704	1.069000	0.30641	0.795000	0.33922	0.184000	0.17185	CAG	.		0.557	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		T	55286648	G	T	55286648	1	4	4	0	1	0	0	0	0	0	0	0	8343	962	34	3		3	KIR2DL1	19	55286648	Intron	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	142164	55286648	3842335	182	432											
ZNF671	79891	broad.mit.edu	37	chr19	58232936	58232936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtaaggtatctttcAatattgggccacatatgtca	9	8	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr19:58232936A>C	ENST00000317398.6	-	4	613	c.518T>G	c.(517-519)tTg>tGg	p.L173W	ZNF671_ENST00000335820.3_Missense_Mutation_p.L75W|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	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)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		GGTATCTTTCAATATTGGGCC	0.478																																					p.L173W		.											.	ZNF671-91	0			c.T518G						.						147	141	143					19																	58232936		2203	4300	6503	SO:0001583	missense	79891	exon4			TCTTTCAATATTG		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.518T>G	19.37:g.58232936A>C	ENSP00000321848:p.Leu173Trp	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	238	4	NM_024833	0	0	0	0	0	A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879201	0.33162	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.30448	1.53;1.53	1.79	1.79	0.24919	.	.	.	.	.	T	0.28566	0.0707	L	0.61036	1.89	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.30475	-0.9977	9	0.72032	D	0.01	.	5.6205	0.17455	1.0:0.0:0.0:0.0	.	173	Q8TAW3	ZN671_HUMAN	W	173;75	ENSP00000321848:L173W;ENSP00000338670:L75W	ENSP00000321848:L173W	L	-	2	0	ZNF671	62924748	0.001000	0.12720	0.022000	0.16811	0.717000	0.41224	0.634000	0.24614	1.076000	0.40961	0.383000	0.25322	TTG	.		0.478	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		C	58232936	A	C	58232936	3	2	4	1	0	0	0	0	1	0	0	0	18126	131	5	5	1090	5	ZNF671	19	58232936	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	2946288	58232936	896047	183	433											
EPB41L1	2036	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34776286	34776286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggactctgagggcatcgaCatcatgttaggcgtttgtgc	13	9	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr20:34776286C>T	ENST00000338074.2	+	9	1052	c.891C>T	c.(889-891)gaC>gaT	p.D297D	EPB41L1_ENST00000373941.1_Silent_p.D297D|EPB41L1_ENST00000373946.3_Silent_p.D266D|EPB41L1_ENST00000441639.1_Silent_p.D235D|EPB41L1_ENST00000373950.2_Silent_p.D200D|EPB41L1_ENST00000202028.5_Silent_p.D235D	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGGCATCGACATCATGTTAG	0.577																																					p.D297D		.											.	EPB41L1-93	0			c.C891T						.						150	140	143					20																	34776286		2203	4300	6503	SO:0001819	synonymous_variant	2036	exon10			CATCGACATCATG	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.891C>T	20.37:g.34776286C>T		Somatic	128	1		WXS	Illumina GAIIx	Phase_I	180	43	NM_001258329	0	0	0	0	0	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1																																																																																			.		0.577	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		T	34776286	C	T	34776286	2	4	4	1	0	0	0	0	0	0	0	1	5168	477	17	3		3	EPB41L1	20	34776286	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10		34776286	28249234	184	434											
SLA2	84174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35242711	35242711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccccaactttacctgTccagctctttccagttgagt	8	13	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr20:35242711T>C	ENST00000262866.4	-	7	1084	c.662A>G	c.(661-663)gAc>gGc	p.D221G	SLA2_ENST00000360672.2_Silent_p.G204G	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	221	SLA C-terminal.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACTTTACCTGTCCAGCTCTTT	0.562																																					p.D221G	Ovarian(59;720 1165 26994 46188 51693)	.											.	SLA2-90	0			c.A662G						.						139	135	137					20																	35242711		2203	4300	6503	SO:0001583	missense	84174	exon7			TACCTGTCCAGCT	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.662A>G	20.37:g.35242711T>C	ENSP00000262866:p.Asp221Gly	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	190	33	NM_032214	0	0	0	0	0	A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	ENST00000262866.4	37	CCDS13282.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461913	0.84425	.	.	ENSG00000101082	ENST00000262866	T	0.78816	-1.21	5.43	5.43	0.79202	.	0.164121	0.53938	D	0.000054	D	0.82641	0.5081	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.55055	0.767	T	0.82733	-0.0311	9	0.41790	T	0.15	.	13.4753	0.61306	0.0:0.0:0.0:1.0	.	221	Q9H6Q3	SLAP2_HUMAN	G	221	ENSP00000262866:D221G	ENSP00000262866:D221G	D	-	2	0	SLA2	34676125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.137000	0.64789	2.279000	0.76181	0.533000	0.62120	GAC	.		0.562	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		C	35242711	T	C	35242711	3	2	4	1	0	0	0	0	1	0	0	0	14409	1667	58	4	131	4	SLA2	20	35242711	Missense_Mutation	SNP	T	TCGA-OR-A5J4-01A-11D-A29I-10	466425	35242711	27782809	185	435											
KIAA1755	85449	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	36869832	36869832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctgcccttacccttgGccaaactctgggcaggaagc	10	14	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr20:36869832G>T	ENST00000279024.4	-	3	972	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	234										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTACCCTTGGCCAAACTCTG	0.592																																					p.A234D		.											.	KIAA1755-95	0			c.C701A						.						113	102	106					20																	36869832		2203	4300	6503	SO:0001583	missense	85449	exon3			CCCTTGGCCAAAC	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.701C>A	20.37:g.36869832G>T	ENSP00000279024:p.Ala234Asp	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	105	35	NM_001029864	0	0	0	0	0	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	2.171	-0.389911	0.04932	.	.	ENSG00000149633	ENST00000279024	T	0.05855	3.38	4.75	-3.15	0.05233	.	0.807218	0.10707	N	0.643268	T	0.03915	0.0110	L	0.39898	1.24	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46638	-0.9177	10	0.16896	T	0.51	.	1.9728	0.03409	0.4078:0.1222:0.3386:0.1314	.	234	Q5JYT7	K1755_HUMAN	D	234	ENSP00000279024:A234D	ENSP00000279024:A234D	A	-	2	0	KIAA1755	36303246	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	0.465000	0.22004	-0.441000	0.07201	0.655000	0.94253	GCC	.		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36869832	G	T	36869832	3	4	4	1	0	0	0	0	1	0	0	0	8284	1203	42	3	2949	3	KIAA1755	20	36869832	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1627121	36869832	26155688	186	436											
CTSA	5476	hgsc.bcm.edu;broad.mit.edu	37	chr20	44520258	44520258	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctgctgctgctgctGctgctagtgtcctgggcgtc					rs576896599|rs564815597	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr20:44520258delG	ENST00000372459.2	+	1	244	c.51delG	c.(49-51)ctgfs	p.L19fs	CTSA_ENST00000354880.5_Frame_Shift_Del_p.L37fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.L19fs|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Frame_Shift_Del_p.L37fs			P10619	PPGB_HUMAN	cathepsin A	19				Missing (in Ref. 4; AAH00597). {ECO:0000305}.	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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				tgctgctgctgctgctAGTGT	0.692																																					p.L35fs		.											.	CTSA-91	0			c.105delG						.						17	20	19					20																	44520258		2138	4184	6322	SO:0001589	frameshift_variant	5476	exon2			GCTGCTGCTGCTA	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.51delG	20.37:g.44520258delG	ENSP00000361537:p.Leu19fs	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	71	19	NM_000308	0	0	0	0	0	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Del	DEL	ENST00000372459.2	37	CCDS46609.1																																																																																			-|0.668;CTG|0.332		0.692	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		-	44520258	G	-	44520258	7	5	4	1	0	1	0	1	0	0	0	0	4038	1306	46	0	111	0	CTSA	20	44520258	Frame_Shift_Del	DEL	G	TCGA-OR-A5J4-01A-11D-A29I-10	7650426	44520258	18505262	187	437	9	2									
CTSA	5476	hgsc.bcm.edu;broad.mit.edu	37	chr20	44520260	44520261	+	Frame_Shift_Del	DEL	TG	TG	-													gctgctgctgctgctgctgcTgctagtgtcctgggcgtccc					rs544157818|rs530287837|rs181943893|rs562182818	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr20:44520260_44520261delTG	ENST00000372459.2	+	1	246_247	c.53_54delTG	c.(52-54)ctgfs	p.L19fs	CTSA_ENST00000354880.5_Frame_Shift_Del_p.L37fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.L19fs|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Frame_Shift_Del_p.L37fs			P10619	PPGB_HUMAN	cathepsin A	19				Missing (in Ref. 4; AAH00597). {ECO:0000305}.	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.L36fs*121(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)				ctgctgctgctgctAGTGTCCT	0.698														215	0.0429313	0.0106	0.0303	5008	,	,		13385	0.129		0.007	False		,,,				2504	0.044				p.36_36del		.											.	CTSA-91	1	Deletion - Frameshift(1)	large_intestine(1)	c.107_108del						.																																			SO:0001589	frameshift_variant	5476	exon2			TGCTGCTGCTAGT	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.53_54delTG	20.37:g.44520260_44520261delTG	ENSP00000361537:p.Leu19fs	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	71	18	NM_000308	0	0	0	0	0	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Del	DEL	ENST00000372459.2	37	CCDS46609.1																																																																																			.		0.698	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		-	44520261	TG	-	44520260	7	5	4	1	0	1	0	1	0	0	0	0	4038	1580	55	0	113	0	CTSA	20	44520260	Frame_Shift_Del	DEL	TG	TCGA-OR-A5J4-01A-11D-A29I-10	2	44520260	18505260	188	438	9	2									
ETS2	2114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	40188949	40188949	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaaaaccaagaaaagacaGaagatcaatatgaagaaaat	7	5	1	7			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr21:40188949G>T	ENST00000360214.3	+	7	983	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	ETS2_ENST00000360938.3_Nonsense_Mutation_p.E175*	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	175					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AGAAAAGACAGAAGATCAATA	0.393																																					p.E315X		.											.	ETS2-849	0			c.G943T						.						133	115	121					21																	40188949		2203	4300	6503	SO:0001587	stop_gained	2114	exon7			AAGACAGAAGATC		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.523G>T	21.37:g.40188949G>T	ENSP00000353344:p.Glu175*	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	66	24	NM_001256295	0	0	0	0	0	A6NM68|D3DSH6|Q53Y89	Nonsense_Mutation	SNP	ENST00000360214.3	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	37	6.476303	0.97598	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000456966	.	.	.	5.61	4.67	0.58626	.	0.361080	0.32218	N	0.006409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	13.7856	0.63108	0.0:0.3173:0.6827:0.0	.	.	.	.	X	175	.	ENSP00000353344:E175X	E	+	1	0	ETS2	39110819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.238000	0.58688	2.793000	0.96121	0.655000	0.94253	GAA	.		0.393	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			T	40188949	G	T	40188949	4	4	4	1	0	0	0	0	0	1	0	0	5292	943	33	3	541	3	ETS2	21	40188949	Nonsense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		40188949	7940946	189	439											
GNB1L	54584	broad.mit.edu	37	chr22	19808792	19808792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagcctgggctccttcGcagaagtgcagcgcatgcac	12	15	0	2	rs115309470	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:19808792G>A	ENST00000329517.6	-	3	323	c.87C>T	c.(85-87)tgC>tgT	p.C29C	GNB1L_ENST00000405009.1_Silent_p.C29C|GNB1L_ENST00000403325.1_Silent_p.C29C|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	29					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)					GGGCTCCTTCGCAGAAGTGCA	0.692													g|||	4	0.000798722	0.003	0	5008	,	,		17626	0		0	False		,,,				2504	0				p.C29C		.											.	GNB1L-290	0			c.C87T						.	A		20,4386	28.1+/-56.4	0,20,2183	51	62	59		87	-3	0	22	dbSNP_132	59	0,8600		0,0,4300	no	coding-synonymous	GNB1L	NM_053004.2		0,20,6483	AA,AG,GG		0.0,0.4539,0.1538		29/328	19808792	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	54584	exon3			TCCTTCGCAGAAG	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.87C>T	22.37:g.19808792G>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	93	3	NM_053004	0	0	0	0	0	Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	CCDS13768.1																																																																																			G|0.998;A|0.002		0.692	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			A	19808792	G	A	19808792	2	1	4	1	0	0	0	0	0	0	0	1	6542	1079	38	1		1	GNB1L	22	19808792	Silent	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10		19808792	31495774	190	440											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780296	20780296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtggcggggtcaggtGgcggcggtttcctgcgctcg	20	10	1	0	rs9680797	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:20780296G>A	ENST00000266214.5	-	11	2086	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SCARF2_ENST00000405555.3_Missense_Mutation_p.P656L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	661	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGTCAGGTGGCGGCGGTTT	0.756													g|||	68	0.0135783	8e-04	0.0303	5008	,	,		7971	0		0.0398	False		,,,				2504	0.0061				p.P661L		.											.	SCARF2-341	0			c.C1982T						.		LEU/PRO,LEU/PRO	27,4371		0,27,2172	16	20	19		1982,1967	3.4	0.9	22	dbSNP_119	19	316,8274		10,296,3989	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	98,98	10,323,6161	AA,AG,GG		3.6787,0.6139,2.6409	probably-damaging,probably-damaging	661/871,656/866	20780296	343,12645	2199	4295	6494	SO:0001583	missense	91179	exon11			TCAGGTGGCGGCG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1982C>T	22.37:g.20780296G>A	ENSP00000266214:p.Pro661Leu	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	43	0.019688644688644688	4	0.008130081300813009	9	0.024861878453038673	0	0.0	30	0.0395778364116095	g	15.57	2.873045	0.51695	0.006139	0.036787	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22539	2.01;1.95	3.38	3.38	0.38709	.	0.084416	0.47093	U	0.000259	T	0.07458	0.0188	L	0.29908	0.895	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.01405	-1.1363	10	0.11485	T	0.65	.	12.6984	0.57018	0.0:0.0:1.0:0.0	rs9680797	656;656	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	656;656;661	ENSP00000385589:P656L;ENSP00000266214:P661L	ENSP00000266214:P661L	P	-	2	0	SCARF2	19110296	1.000000	0.71417	0.865000	0.33974	0.132000	0.20833	8.286000	0.89916	1.917000	0.55516	0.441000	0.28932	CCA	G|0.977;A|0.023		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			A	20780296	G	A	20780296	3	1	4	1	0	0	0	0	1	0	0	0	13929	1348	47	3	634	3	SCARF2	22	20780296	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	971504	20780296	30524270	191	441											
NEFH	4744	bcgsc.ca	37	chr22	29886043	29886043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaaatctcccctgaaggAggatgccaaggcccctgaga	13	12	1	2	rs165602	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:29886043A>C	ENST00000310624.6	+	4	2447	c.2414A>C	c.(2413-2415)gAg>gCg	p.E805A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	811	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						CCCCTGAAGGAGGATGCCAAG	0.552													A|||	600	0.119808	0.1135	0.1297	5008	,	,		18679	0.0526		0.1421	False		,,,				2504	0.1677				p.E805A		.											.	NEFH-90	0			c.A2414C						.	A	ALA/GLU	567,3839	241.5+/-251.9	42,483,1678	41	44	43	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2414	5.4	1	22	dbSNP_79	43	1313,7285	247.6+/-275.6	86,1141,3072	yes	missense	NEFH	NM_021076.3	107	128,1624,4750	CC,CA,AA		15.271,12.8688,14.4571	probably-damaging	805/1021	29886043	1880,11124	2203	4299	6502	SO:0001583	missense	4744	exon4			TGAAGGAGGATGC		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.2414A>C	22.37:g.29886043A>C	ENSP00000311997:p.Glu805Ala	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	81	5	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	252	0.11538461538461539	59	0.11991869918699187	54	0.14917127071823205	25	0.043706293706293704	114	0.1503957783641161	A	16.98	3.271851	0.59649	0.128688	0.15271	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.86164	-2.08	5.42	5.42	0.78866	.	0.129681	0.34932	N	0.003568	T	0.03651	0.0104	L	0.55834	1.745	0.09310	P	0.999999213389	D	0.56035	0.974	P	0.50352	0.638	T	0.52208	-0.8606	9	0.87932	D	0	.	15.4256	0.75048	1.0:0.0:0.0:0.0	rs165602;rs695847;rs16987680;rs52801416;rs58898655;rs165602	811	P12036	NFH_HUMAN	A	756;805	ENSP00000311997:E805A	ENSP00000311997:E805A	E	+	2	0	NEFH	28216043	0.995000	0.38212	0.988000	0.46212	0.657000	0.38888	3.316000	0.51960	2.190000	0.69967	0.533000	0.62120	GAG	A|0.871;C|0.129		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29886043	A	C	29886043	3	2	4	1	0	0	0	0	1	0	0	0	10353	304	11	5	2428	5	NEFH	22	29886043	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	9105747	29886043	21418523	192	442											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	4	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	8236419	38122462	13182104	193	443											
TRIOBP	11078	broad.mit.edu	37	chr22	38131006	38131006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtggctctgagaggcgaCccgagcttgactggagggat	17	10	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:38131006C>A	ENST00000406386.3	+	9	4918	c.4663C>A	c.(4663-4665)Ccc>Acc	p.P1555T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1555					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)					TGAGAGGCGACCCGAGCTTGA	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1555T		.											.	TRIOBP-136	0			c.C4663A						.						55	64	61					22																	38131006		2032	4174	6206	SO:0001583	missense	11078	exon9			AGGCGACCCGAGC	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.4663C>A	22.37:g.38131006C>A	ENSP00000384312:p.Pro1555Thr	Somatic	46	2	875	WXS	Illumina GAIIx	Phase_I	59	12	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572139	0.45798	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	5.75	-0.478	0.12093	.	.	.	.	.	T	0.11793	0.0287	L	0.27053	0.805	0.09310	N	1	B	0.27229	0.172	B	0.25614	0.062	T	0.31110	-0.9955	9	0.62326	D	0.03	.	2.2167	0.03962	0.1457:0.4074:0.2834:0.1635	.	1555	Q9H2D6	TARA_HUMAN	T	1555;1516	ENSP00000384312:P1555T	ENSP00000384312:P1555T	P	+	1	0	TRIOBP	36460952	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.242000	0.08928	0.331000	0.23511	0.563000	0.77884	CCC	.		0.677	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38131006	C	A	38131006	3	1	4	1	0	0	0	0	1	0	0	0	16601	507	18	3	4689	3	TRIOBP	22	38131006	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	8544	38131006	13173560	194	444											
MCHR1	2847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	41075522	41075522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcggctgccaggctAcggaggaagacccccttccc	14	16	0	1	rs147389509	byFrequency	TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:41075522A>G	ENST00000249016.4	+	1	769	c.73A>G	c.(73-75)Acg>Gcg	p.T25A	MCHR1_ENST00000381433.2_Missense_Mutation_p.T25A|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	25			T -> M (in dbSNP:rs117372135). {ECO:0000269|PubMed:15941924}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CTGCCAGGCTACGGAGGAAGA	0.657																																					p.T25A		.											.	MCHR1-90	0			c.A73G						.	A	ALA/THR	2,4404	4.2+/-10.8	0,2,2201	31	37	35		73	3.8	0.3	22	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCHR1	NM_005297.3	58	0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231	benign	25/423	41075522	3,13003	2203	4300	6503	SO:0001583	missense	2847	exon1			CAGGCTACGGAGG		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.73A>G	22.37:g.41075522A>G	ENSP00000249016:p.Thr25Ala	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	145	40	NM_005297	0	0	0	0	0	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	A	0.043	-1.276496	0.01410	4.54E-4	1.16E-4	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.62232	0.04;0.58	4.86	3.84	0.44239	.	1.193210	0.06392	N	0.717233	T	0.41328	0.1154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	10	0.13470	T	0.59	.	9.0699	0.36486	0.103:0.0:0.897:0.0	.	25	Q99705	MCHR1_HUMAN	A	25	ENSP00000249016:T25A;ENSP00000370841:T25A	ENSP00000249016:T25A	T	+	1	0	MCHR1	39405468	0.001000	0.12720	0.344000	0.25628	0.289000	0.27227	0.889000	0.28282	1.054000	0.40438	-0.344000	0.07964	ACG	A|1.000;G|0.000		0.657	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		G	41075522	A	G	41075522	3	3	4	1	0	0	0	0	1	0	0	0	9420	391	14	4	75	4	MCHR1	22	41075522	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	2944516	41075522	10229044	195	445											
BRD1	23774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50198009	50198009	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcgcaatcctatttaacCtaaaacacaaacactcagtg	4	11	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:50198009C>A	ENST00000216267.8	-	2	1854		c.e2-1		BRD1_ENST00000404034.1_Splice_Site|BRD1_ENST00000457780.2_Splice_Site|BRD1_ENST00000342989.5_Splice_Site|BRD1_ENST00000542442.1_Splice_Site|BRD1_ENST00000404760.1_Splice_Site	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1						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)		CCTATTTAACCTAAAACACAA	0.448																																					.		.											.	BRD1-91	0			c.1368-1G>T						.						73	76	75					22																	50198009		2203	4300	6503	SO:0001630	splice_region_variant	23774	exon3			TTTAACCTAAAAC	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.1368-1G>T	22.37:g.50198009C>A		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	150	55	NM_014577	0	0	0	0	0	A6ZJA4	Splice_Site	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340960	0.60963	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD1	48584013	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	7.591000	0.82666	2.366000	0.80165	0.655000	0.94253	.	.		0.448	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	Intron	A	50198009	C	A	50198009	5	1	4	1	0	0	0	0	0	0	1	0	1505	695	24	3	1853	3	BRD1	22	50198009	Splice_Site	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	9122487	50198009	1106557	196	446											
PANX2	56666	broad.mit.edu	37	chr22	50617594	50617595	+	Frame_Shift_Ins	INS	-	-	C													cgggaggaggaggacgggggINScccccgcctgccgcaggacg					rs376326556		TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:50617594_50617595insC	ENST00000395842.2	+	3	1922_1923	c.1922_1923insC	c.(1921-1926)ggccccfs	p.GP641fs	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	641					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGACGGGGGCCCCCGCCTGC	0.678																																					p.G641fs		.											.	PANX2-131	0			c.1922_1923insC						.																																			SO:0001589	frameshift_variant	56666	exon3			ACGGGGGCCCCCG		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1927dupC	22.37:g.50617599_50617599dupC	ENSP00000379183:p.Gly641fs	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	89	15	NM_052839	0	0	0	0	0	B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Ins	INS	ENST00000395842.2	37	CCDS14085.2																																																																																			.		0.678	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		C	50617595	-	C	50617594	7	5	4	1	0	1	1	0	0	0	0	0	11460	1203	42	0	1932	0	PANX2	22	50617594	Frame_Shift_Ins	INS	-	TCGA-OR-A5J4-01A-11D-A29I-10	419585	50617594	686972	197	447											
CHKB	1120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	51019907	51019907	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaggcatctccatgccatGaaattgcgccatcttcgtgg	10	11	2	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chr22:51019907G>T	ENST00000406938.2	-	4	740	c.523C>A	c.(523-525)Cat>Aat	p.H175N	CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB_ENST00000463053.1_5'UTR|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB-CPT1B_ENST00000453634.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	175					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TCCATGCCATGAAATTGCGCC	0.567																																					p.H175N		.											.	CHKB-90	0			c.C523A						.						64	54	57					22																	51019907		2203	4300	6503	SO:0001583	missense	1120	exon4			TGCCATGAAATTG	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.523C>A	22.37:g.51019907G>T	ENSP00000384400:p.His175Asn	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	79	42	NM_005198	0	0	0	0	0	A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019583	0.93462	.	.	ENSG00000100288	ENST00000406938	T	0.81163	-1.46	4.94	4.94	0.65067	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95082	0.8214	10	0.87932	D	0	-12.3199	15.6847	0.77400	0.0:0.0:1.0:0.0	.	175	Q9Y259	CHKB_HUMAN	N	175	ENSP00000384400:H175N	ENSP00000384400:H175N	H	-	1	0	CHKB	49366773	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.293000	0.96082	2.552000	0.86080	0.561000	0.74099	CAT	.		0.567	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		T	51019907	G	T	51019907	3	4	4	1	0	0	0	0	1	0	0	0	3355	1290	45	3	696	3	CHKB	22	51019907	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	402313	51019907	284659	198	448											
WWC3	55841	broad.mit.edu	37	chrX	10035510	10035510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaaatgtgtgaggatgAcagccgctcgtacgccagct	12	11	0	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:10035510A>G	ENST00000380861.4	+	3	591	c.200A>G	c.(199-201)gAc>gGc	p.D67G	WWC3_ENST00000454666.1_Missense_Mutation_p.D67G	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	67					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTGAGGATGACAGCCGCTCG	0.488																																					p.D67G		.											.	WWC3-134	0			c.A200G						.						64	54	58					X																	10035510		2203	4300	6503	SO:0001583	missense	55841	exon3			AGGATGACAGCCG	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.200A>G	X.37:g.10035510A>G	ENSP00000370242:p.Asp67Gly	Somatic	317	0		WXS	Illumina GAIIx	Phase_I	350	7	NM_015691	0	0	0	0	0	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334941	0.81801	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05081	3.5;3.5	5.31	5.31	0.75309	.	0.097116	0.64402	D	0.000001	T	0.10465	0.0256	M	0.63428	1.95	0.58432	D	0.999997	P	0.36789	0.57	B	0.39217	0.294	T	0.14035	-1.0487	10	0.25751	T	0.34	-27.4572	14.3611	0.66771	1.0:0.0:0.0:0.0	.	67	Q9ULE0	WWC3_HUMAN	G	67	ENSP00000370242:D67G;ENSP00000399584:D67G	ENSP00000370242:D67G	D	+	2	0	WWC3	9995510	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	7.269000	0.78482	1.770000	0.52166	0.412000	0.27726	GAC	.		0.488	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		G	10035510	A	G	10035510	3	3	4	1	0	0	0	0	1	0	0	0	17462	275	10	4	206	4	WWC3	23	10035510	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10		10035510	145235050	199	449											
MAP3K15	389840	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	19425347	19425347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtagatttgaaagtcAtcagaattatcatggacata	8	4	3	3			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:19425347A>T	ENST00000338883.4	-	13	1802	c.1803T>A	c.(1801-1803)gaT>gaA	p.D601E	MAP3K15_ENST00000359173.3_Missense_Mutation_p.D36E|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D433E	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	601							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)					TTTGAAAGTCATCAGAATTAT	0.338																																					p.D601E		.											.	MAP3K15-335	0			c.T1803A						.						113	96	102					X																	19425347		2203	4300	6503	SO:0001583	missense	389840	exon13			AAAGTCATCAGAA	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.1803T>A	X.37:g.19425347A>T	ENSP00000345629:p.Asp601Glu	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	251	21	NM_001001671	0	0	0	0	0	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	A	19.35	3.811221	0.70797	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73469	-0.74;-0.75;-0.7	4.6	4.6	0.57074	.	0.092857	0.64402	D	0.000001	T	0.74015	0.3661	M	0.69463	2.115	0.58432	D	0.999999	B;D	0.54207	0.421;0.965	B;P	0.44518	0.247;0.452	T	0.77744	-0.2473	10	0.54805	T	0.06	.	13.3862	0.60797	1.0:0.0:0.0:0.0	.	76;601	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	E	601;36;433	ENSP00000345629:D601E;ENSP00000352093:D36E;ENSP00000428356:D433E	ENSP00000345629:D601E	D	-	3	2	MAP3K15	19335268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.773000	0.55333	1.802000	0.52723	0.486000	0.48141	GAT	.		0.338	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19425347	A	T	19425347	3	4	4	1	0	0	0	0	1	0	0	0	9287	214	8	5	2206	5	MAP3K15	23	19425347	Missense_Mutation	SNP	A	TCGA-OR-A5J4-01A-11D-A29I-10	9389837	19425347	135845213	200	450											
PHEX	5251	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	22117127	22117127	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gttctctctcccctcagttcGactggctgggctacatcaag	9	14	4	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:22117127G>C	ENST00000379374.4	+	9	1502	c.937G>C	c.(937-939)Gac>Cac	p.D313H	PHEX_ENST00000418858.3_Missense_Mutation_p.D16H|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.D313H|PHEX_ENST00000535894.1_Missense_Mutation_p.D216H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	313					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCCTCAGTTCGACTGGCTGGG	0.483																																					p.D313H		.											.	PHEX-132	0			c.G937C	GRCh37	CI001586	PHEX	I		.						133	115	121					X																	22117127		2203	4300	6503	SO:0001583	missense	5251	exon9			CAGTTCGACTGGC	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.937G>C	X.37:g.22117127G>C	ENSP00000368682:p.Asp313His	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	76	21	NM_000444	0	0	0	0	0	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119211	0.77323	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.46	5.46	0.80206	Peptidase M13 (1);	0.043010	0.85682	D	0.000000	D	0.92776	0.7703	M	0.81802	2.56	0.50632	D	0.999885	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.93658	0.6979	10	0.87932	D	0	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	313;313	F5GXU4;P78562	.;PHEX_HUMAN	H	313;313;216;16	ENSP00000368682:D313H;ENSP00000440362:D313H;ENSP00000439418:D216H;ENSP00000443531:D16H	ENSP00000368682:D313H	D	+	1	0	PHEX	22027048	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.567000	0.67378	2.282000	0.76494	0.529000	0.55759	GAC	.		0.483	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		C	22117127	G	C	22117127	3	2	4	1	0	0	0	0	1	0	0	0	11858	1058	37	2	971	2	PHEX	23	22117127	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	2691780	22117127	133153433	201	451											
KLHL15	80311	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	24006591	24006591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgttattgagcactgtcCcctcatgtccatatttgtta	6	9	1	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:24006591C>A	ENST00000328046.8	-	4	1517	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	421					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAGCACTGTCCCCTCATGTCC	0.428																																					p.G421V		.											.	KLHL15-131	0			c.G1262T						.						177	144	155					X																	24006591		2203	4300	6503	SO:0001583	missense	80311	exon4			ACTGTCCCCTCAT	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1262G>T	X.37:g.24006591C>A	ENSP00000332791:p.Gly421Val	Somatic	228	1		WXS	Illumina GAIIx	Phase_I	272	72	NM_030624	0	0	0	0	0	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261034	0.39995	.	.	ENSG00000174010	ENST00000328046	T	0.64085	-0.08	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.21583	0.68	0.80722	D	1	P	0.44090	0.826	B	0.36567	0.228	T	0.46582	-0.9181	10	0.25751	T	0.34	.	18.6167	0.91305	0.0:1.0:0.0:0.0	.	421	Q96M94	KLH15_HUMAN	V	421	ENSP00000332791:G421V	ENSP00000332791:G421V	G	-	2	0	KLHL15	23916512	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.132000	0.77251	2.426000	0.82243	0.506000	0.49869	GGG	.		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		A	24006591	C	A	24006591	3	1	4	1	0	0	0	0	1	0	0	0	8398	623	22	3	556	3	KLHL15	23	24006591	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	1889464	24006591	131263969	202	452											
FAM47C	442444	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	37026574	37026574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgccttccaagtacttcGcgaagcgcaagcacaggcgc	10	15	0	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:37026574G>A	ENST00000358047.3	+	1	143	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										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						CAAGTACTTCGCGAAGCGCAA	0.642																																					p.A31T		.											.	FAM47C-111	0			c.G91A						.						27	25	26					X																	37026574		2202	4299	6501	SO:0001583	missense	442444	exon1			TACTTCGCGAAGC	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.91G>A	X.37:g.37026574G>A	ENSP00000367913:p.Ala31Thr	Somatic	368	0		WXS	Illumina GAIIx	Phase_I	423	28	NM_001013736	0	0	0	0	0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364786	0.24684	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.462	-0.871	0.10642	.	.	.	.	.	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	P	0.44241	0.829	B	0.39706	0.307	T	0.19745	-1.0296	8	0.23302	T	0.38	.	.	.	.	.	31	Q5HY64	FA47C_HUMAN	T	31	ENSP00000367913:A31T	ENSP00000367913:A31T	A	+	1	0	FAM47C	36936495	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.328000	0.07945	-0.487000	0.06735	-0.888000	0.02935	GCG	.		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37026574	G	A	37026574	3	1	4	1	0	0	0	0	1	0	0	0	5593	1087	38	1	93	1	FAM47C	23	37026574	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	13019983	37026574	118243986	203	453											
FAM47C	442444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	37028029	37028029	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atctccgcccagagccttctGagactggagtgtcccatctc	9	15	3	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:37028029G>C	ENST00000358047.3	+	1	1598	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	516										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						AGAGCCTTCTGAGACTGGAGT	0.607																																					p.E516Q		.											.	FAM47C-111	0			c.G1546C						.						84	82	83					X																	37028029		2202	4300	6502	SO:0001583	missense	442444	exon1			CCTTCTGAGACTG	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.1546G>C	X.37:g.37028029G>C	ENSP00000367913:p.Glu516Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	80	29	NM_001013736	0	0	0	0	0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.684134	0.29872	.	.	ENSG00000198173	ENST00000358047	T	0.15487	2.42	0.993	-1.84	0.07809	.	.	.	.	.	T	0.23330	0.0564	M	0.77313	2.365	0.09310	N	1	P	0.50710	0.938	P	0.52554	0.702	T	0.20472	-1.0274	9	0.15066	T	0.55	.	3.482	0.07606	0.22:0.2607:0.5193:0.0	.	516	Q5HY64	FA47C_HUMAN	Q	516	ENSP00000367913:E516Q	ENSP00000367913:E516Q	E	+	1	0	FAM47C	36937950	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.171000	0.09883	-0.770000	0.04614	0.413000	0.27773	GAG	.		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		C	37028029	G	C	37028029	3	2	4	1	0	0	0	0	1	0	0	0	5593	1291	45	3	1548	3	FAM47C	23	37028029	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	1455	37028029	118242531	204	454											
GPR82	27197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	41586498	41586498	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccatgcctttcatgagtatCtatttcctgaaaggtttcca	7	10	2	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:41586498C>G	ENST00000302548.4	+	3	459	c.219C>G	c.(217-219)atC>atG	p.I73M	CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I73I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCATGAGTATCTATTTCCTGA	0.393																																					p.I73M		.											.	GPR82-110	2	Substitution - coding silent(2)	lung(2)	c.C219G						.						100	79	86					X																	41586498		2203	4300	6503	SO:0001583	missense	27197	exon3			GAGTATCTATTTC	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.219C>G	X.37:g.41586498C>G	ENSP00000303549:p.Ile73Met	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	130	41	NM_080817	0	0	0	0	0	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006571	0.19199	.	.	ENSG00000171657	ENST00000302548	T	0.38722	1.12	5.42	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.902199	0.09383	N	0.809643	T	0.30230	0.0758	L	0.36672	1.1	0.30097	N	0.807807	B	0.12630	0.006	B	0.17098	0.017	T	0.34601	-0.9822	10	0.22109	T	0.4	-1.4774	4.297	0.10906	0.1677:0.5957:0.1504:0.0861	.	73	Q96P67	GPR82_HUMAN	M	73	ENSP00000303549:I73M	ENSP00000303549:I73M	I	+	3	3	GPR82	41471442	0.991000	0.36638	0.997000	0.53966	0.835000	0.47333	0.966000	0.29331	0.437000	0.26423	0.513000	0.50165	ATC	.		0.393	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		G	41586498	C	G	41586498	3	3	4	1	0	0	0	0	1	0	0	0	6738	903	32	3	221	3	GPR82	23	41586498	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	4558469	41586498	113684062	205	455											
PORCN	64840	broad.mit.edu	37	chrX	48368343	48368343	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccgcctcctctggaggctCggtaagtgcctgccataccg	12	15	1	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:48368343C>G	ENST00000326194.6	+	1	178	c.135C>G	c.(133-135)ctC>ctG	p.L45L	PORCN_ENST00000361988.3_Splice_Site_p.L45L|PORCN_ENST00000537758.1_Splice_Site_p.L45L|PORCN_ENST00000355092.3_Splice_Site_p.L45L|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000359882.4_Splice_Site_p.L45L|PORCN_ENST00000355961.4_Splice_Site_p.L45L|PORCN_ENST00000367574.4_5'UTR	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	45	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTGGAGGCTCGGTAAGTGCC	0.602																																					p.L45L		.											.	PORCN-133	0			c.C135G						.						29	28	28					X																	48368343		2201	4300	6501	SO:0001630	splice_region_variant	64840	exon1			GAGGCTCGGTAAG	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.136+1C>G	X.37:g.48368343C>G		Somatic	116	7		WXS	Illumina GAIIx	Phase_I	108	12	NM_203475	0	0	0	0	0	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	CCDS14299.1																																																																																			.		0.602	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825	Silent	G	48368343	C	G	48368343	5	3	4	1	0	0	0	0	0	0	1	0	12297	898	31	2	137	2	PORCN	23	48368343	Splice_Site	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	6781845	48368343	106902217	206	456											
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53284064	53284064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggatggtcctggcaGccctgcggctcaggaaggag	16	11	2	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:53284064G>C	ENST00000375368.5	-	3	1219	c.1019C>G	c.(1018-1020)gCt>gGt	p.A340G	IQSEC2_ENST00000375365.2_Missense_Mutation_p.A145G|IQSEC2_ENST00000396435.3_Missense_Mutation_p.A350G			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	340	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGTCCTGGCAGCCCTGCGGCT	0.602																																					p.A350G		.											.	IQSEC2-178	0			c.C1049G						.						31	28	29					X																	53284064		2203	4299	6502	SO:0001583	missense	23096	exon4			CTGGCAGCCCTGC	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1019C>G	X.37:g.53284064G>C	ENSP00000364517:p.Ala340Gly	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	182	45	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.191528	0.78902	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.78481	-1.18;-1.18;-1.18	5.09	5.09	0.68999	.	0.121779	0.53938	D	0.000048	D	0.86377	0.5918	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.88030	0.2774	10	0.87932	D	0	.	16.3278	0.82994	0.0:0.0:1.0:0.0	.	350;145	Q5JU85-2;Q5JU85-3	.;.	G	350;340;145	ENSP00000379712:A350G;ENSP00000364517:A340G;ENSP00000364514:A145G	ENSP00000364514:A145G	A	-	2	0	IQSEC2	53300789	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	9.824000	0.99380	2.108000	0.64289	0.513000	0.50165	GCT	.		0.602	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		C	53284064	G	C	53284064	3	2	4	1	0	0	0	0	1	0	0	0	7845	971	34	3	3465	3	IQSEC2	23	53284064	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	4915721	53284064	101986496	207	457											
HUWE1	10075	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	53616611	53616611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtatactgtgtctggcagctCatcaagaaggtggaagcagc	13	8	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:53616611C>T	ENST00000342160.3	-	35	4814	c.4357G>A	c.(4357-4359)Gag>Aag	p.E1453K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E1453K|HUWE1_ENST00000218328.8_Missense_Mutation_p.E1453K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1453					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						TCTGGCAGCTCATCAAGAAGG	0.453																																					p.E1453K		.											.	HUWE1-280	0			c.G4357A						.						215	161	179					X																	53616611		2203	4300	6503	SO:0001583	missense	10075	exon36			GCAGCTCATCAAG	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.4357G>A	X.37:g.53616611C>T	ENSP00000340648:p.Glu1453Lys	Somatic	217	1		WXS	Illumina GAIIx	Phase_I	225	56	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390230	0.62066	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.43688	1.24;1.24;0.94	5.93	5.93	0.95920	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	N	0.14661	0.345	0.80722	D	1	P;P	0.52692	0.924;0.955	B;P	0.50270	0.432;0.636	T	0.09164	-1.0687	10	0.14252	T	0.57	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	1453;1453	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	1453	ENSP00000340648:E1453K;ENSP00000262854:E1453K;ENSP00000218328:E1453K	ENSP00000218328:E1453K	E	-	1	0	HUWE1	53633336	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.797000	0.69087	2.513000	0.84729	0.600000	0.82982	GAG	.		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53616611	C	T	53616611	3	4	4	1	0	0	0	0	1	0	0	0	7488	835	29	3	8963	3	HUWE1	23	53616611	Missense_Mutation	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	332547	53616611	101653949	208	458											
COL4A6	1288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107447550	107447550	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattcttaaatgttcactacCttggatcctttcttcccttt	3	11	3	0			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:107447550C>A	ENST00000372216.4	-	12	883	c.783G>T	c.(781-783)aaG>aaT	p.K261N	COL4A6_ENST00000394872.2_Splice_Site_p.K258N|COL4A6_ENST00000334504.7_Splice_Site_p.K260N|COL4A6_ENST00000545689.1_Splice_Site_p.K260N|COL4A6_ENST00000538570.1_Splice_Site_p.K260N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	261	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGTTCACTACCTTGGATCCTT	0.398									Alport syndrome with Diffuse Leiomyomatosis																												p.K261N	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G783T						.						54	50	52					X																	107447550		2203	4300	6503	SO:0001630	splice_region_variant	1288	exon12	Familial Cancer Database		CACTACCTTGGAT	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.783+1G>T	X.37:g.107447550C>A		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	35	16	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416610	0.25552	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93859	-3.3;-3.3;-3.28;-3.3;-3.3	5.21	4.31	0.51392	.	0.000000	0.42420	D	0.000709	D	0.93848	0.8032	L	0.58428	1.81	0.35704	D	0.815817	D;D;D;D	0.64830	0.992;0.992;0.994;0.992	P;P;P;P	0.60541	0.876;0.876;0.755;0.876	D	0.94004	0.7278	9	.	.	.	.	6.741	0.23435	0.0:0.7589:0.0:0.2411	.	260;260;261;260	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	N	261;260;258;260;260;260	ENSP00000361290:K261N;ENSP00000334733:K260N;ENSP00000378340:K258N;ENSP00000443707:K260N;ENSP00000445236:K260N	.	K	-	3	2	COL4A6	107334206	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.295000	0.33377	1.164000	0.42652	0.600000	0.82982	AAG	.		0.398	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Missense_Mutation	A	107447550	C	A	107447550	5	1	4	1	0	0	0	0	0	0	1	0	3702	695	24	3	4428	3	COL4A6	23	107447550	Splice_Site	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	53830939	107447550	47823010	209	459											
OCRL	4952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	128722897	128722897	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgtggctgaagcactgctCattttcttggaagccctgcc	10	12	3	1			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:128722897C>A	ENST00000371113.4	+	22	2541	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	OCRL_ENST00000357121.5_Silent_p.L784L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	792	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						AAGCACTGCTCATTTTCTTGG	0.542																																					p.L792L		.											.	OCRL-206	0			c.C2376A						.						120	97	105					X																	128722897		2203	4300	6503	SO:0001819	synonymous_variant	4952	exon22			ACTGCTCATTTTC	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.2376C>A	X.37:g.128722897C>A		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	62	8	NM_000276	0	0	0	0	0	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	CCDS35393.1																																																																																			.		0.542	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		A	128722897	C	A	128722897	2	1	4	1	0	0	0	0	0	0	0	1	10862	813	29	3		3	OCRL	23	128722897	Silent	SNP	C	TCGA-OR-A5J4-01A-11D-A29I-10	21275347	128722897	26547663	210	460											
PHF6	84295	broad.mit.edu;bcgsc.ca	37	chrX	133547878	133547878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtctccacacagaagcaGccctagtgacaccaggccta	9	14	1	2			TCGA-OR-A5J4-01A-11D-A29I-10	TCGA-OR-A5J4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d76daa9-a336-435c-aeef-47344d97ac5b	75574849-0529-454a-92ea-2580f79cc974	g.chrX:133547878G>T	ENST00000332070.3	+	7	813	c.611G>T	c.(610-612)aGc>aTc	p.S204I	PHF6_ENST00000370799.1_Missense_Mutation_p.S205I|PHF6_ENST00000370800.4_Missense_Mutation_p.S205I|PHF6_ENST00000416404.2_Missense_Mutation_p.S170I|PHF6_ENST00000394292.1_Missense_Mutation_p.S205I|PHF6_ENST00000370803.3_Missense_Mutation_p.S204I	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CACAGAAGCAGCCCTAGTGAC	0.388			"F, N, Splice, Mis"		ETP ALL																																p.S205I	Colon(100;666 1493 6344 21231 35807)	.		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	.	PHF6-131	0			c.G614T						.						99	88	91					X																	133547878		2203	4300	6503	SO:0001583	missense	84295	exon7			GAAGCAGCCCTAG	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.611G>T	X.37:g.133547878G>T	ENSP00000329097:p.Ser204Ile	Somatic	336	0		WXS	Illumina GAIIx	Phase_I	312	8	NM_032335	0	0	0	0	0	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968818	0.53614	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.14;-2.71;-1.73;-2.35	5.71	5.71	0.89125	.	0.034187	0.85682	D	0.000000	D	0.90700	0.7082	L	0.27053	0.805	0.80722	D	1	D;D;P;P;D	0.62365	0.978;0.991;0.769;0.769;0.987	P;P;B;B;P	0.57776	0.543;0.801;0.332;0.332;0.827	D	0.90197	0.4254	10	0.37606	T	0.19	-5.3761	17.9424	0.89029	0.0:0.0:1.0:0.0	.	170;204;204;205;205	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	I	204;204;205;205;170;205	ENSP00000359839:S204I;ENSP00000329097:S204I;ENSP00000377831:S205I;ENSP00000359835:S205I;ENSP00000394480:S170I;ENSP00000359836:S205I	ENSP00000329097:S204I	S	+	2	0	PHF6	133375544	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.565000	0.82337	2.544000	0.85801	0.594000	0.82650	AGC	.		0.388	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		T	133547878	G	T	133547878	3	4	4	1	0	0	0	0	1	0	0	0	11877	971	34	3	636	3	PHF6	23	133547878	Missense_Mutation	SNP	G	TCGA-OR-A5J4-01A-11D-A29I-10	4824981	133547878	21722682	211	461											
SCNN1D	6339	hgsc.bcm.edu	37	chr1	1226692	1226692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtttggggcctccgTcctctccctcctggagctcc	11	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:1226692T>C	ENST00000338555.2	+	15	2763	c.1619T>C	c.(1618-1620)gTc>gCc	p.V540A	SCNN1D_ENST00000325425.8_Missense_Mutation_p.V606A|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V704A|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V540A			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	540					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGGGCCTCCGTCCTCTCCCTC	0.731																																					p.V704A		.											.	SCNN1D-90	0			c.T2111C						.						17	14	15					1																	1226692		2140	4214	6354	SO:0001583	missense	6339	exon18			CCTCCGTCCTCTC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1619T>C	1.37:g.1226692T>C	ENSP00000339504:p.Val540Ala	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	40	38	NM_001130413	0	0	0	3	3	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	T	12.55	1.973078	0.34848	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.09	1.7	0.24286	.	0.000000	0.44483	U	0.000451	T	0.77772	0.4180	M	0.85630	2.765	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.996	D;D;P	0.67725	0.953;0.952;0.834	T	0.67035	-0.5772	10	0.87932	D	0	.	4.941	0.13965	0.0:0.0985:0.1867:0.7147	.	362;540;704	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	A	571;704;540;606;540	ENSP00000368411:V704A;ENSP00000339504:V540A;ENSP00000321594:V606A;ENSP00000383717:V540A	ENSP00000321594:V606A	V	+	2	0	SCNN1D	1216555	0.257000	0.24022	0.001000	0.08648	0.776000	0.43924	1.678000	0.37586	0.159000	0.19401	0.260000	0.18958	GTC	.		0.731	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		C	1226692	T	C	1226692	3	2	5	1	0	0	0	0	1	0	0	0	13974	1667	58	4	1875	4	SCNN1D	1	1226692	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10		1226692	248023929	1	462											
CHD5	26038	bcgsc.ca;mdanderson.org	37	chr1	6194223	6194223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacggtgcccctcatcccGcagtttcttcagcatcttct	6	17	5	0	rs200489902		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:6194223G>A	ENST00000262450.3	-	20	3208	c.3109C>T	c.(3109-3111)Cgg>Tgg	p.R1037W	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)		CCCTCATCCCGCAGTTTCTTC	0.627													G|||	1	0.000199681	0	0	5008	,	,		16082	0		0.001	False		,,,				2504	0				p.R1037W		.											.	CHD5-719	0			c.C3109T						.						84	82	83					1																	6194223		2203	4300	6503	SO:0001583	missense	26038	exon20			CATCCCGCAGTTT	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.3109C>T	1.37:g.6194223G>A	ENSP00000262450:p.Arg1037Trp	Somatic	39	1		WXS	Illumina GAIIx	Phase_I	41	34	NM_015557	0	0	0	0	0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.025384	0.75390	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.70869	-0.52	4.67	2.69	0.31865	Helicase, C-terminal (1);	0.081790	0.48286	D	0.000195	T	0.73071	0.3540	M	0.64170	1.965	0.80722	D	1	D	0.64830	0.994	P	0.50570	0.644	T	0.75062	-0.3450	10	0.87932	D	0	-30.2926	12.4199	0.55514	0.0:0.0:0.5591:0.4409	.	1037	Q8TDI0	CHD5_HUMAN	W	1037;553;445;445	ENSP00000262450:R1037W	ENSP00000262450:R1037W	R	-	1	2	CHD5	6116810	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.411000	0.52672	0.441000	0.26529	0.561000	0.74099	CGG	G|0.999;A|0.000		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6194223	G	A	6194223	3	1	5	1	0	0	0	0	1	0	0	0	3335	1086	38	1	2843	1	CHD5	1	6194223	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4967531	6194223	243056398	2	463											
PLEKHG5	57449	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	6534211	6534211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaccttgccctcatctccAggcttggctggggctgcatg	11	15	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:6534211A>G	ENST00000400915.3	-	8	687	c.621T>C	c.(619-621)ccT>ccC	p.P207P	PLEKHG5_ENST00000377740.3_Silent_p.P228P|PLEKHG5_ENST00000377732.1_Silent_p.P188P|PLEKHG5_ENST00000377748.1_Silent_p.P228P|PLEKHG5_ENST00000544978.1_Silent_p.P151P|PLEKHG5_ENST00000535355.1_Silent_p.P220P|PLEKHG5_ENST00000377737.2_Silent_p.P151P|PLEKHG5_ENST00000340850.5_Silent_p.P151P|PLEKHG5_ENST00000377725.1_Silent_p.P151P|PLEKHG5_ENST00000377728.3_Silent_p.P151P|PLEKHG5_ENST00000400913.1_Silent_p.P151P|PLEKHG5_ENST00000537245.1_Silent_p.P230P	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	207					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)		CCTCATCTCCAGGCTTGGCTG	0.672																																					p.P230P		.											.	PLEKHG5-652	0			c.T690C						.						29	30	30					1																	6534211		2202	4300	6502	SO:0001819	synonymous_variant	57449	exon8			ATCTCCAGGCTTG	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.621T>C	1.37:g.6534211A>G		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	58	43	NM_001265592	0	0	0	5	5	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																			.		0.672	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		G	6534211	A	G	6534211	2	3	5	1	0	0	0	0	0	0	0	1	12112	175	7	4		4	PLEKHG5	1	6534211	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	339988	6534211	242716410	3	464											
PER3	8863	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	7887490	7887490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccggaaggcctgcatgGgctgcccttgtccgagggct	15	13	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:7887490G>T	ENST00000361923.2	+	17	2652	c.2477G>T	c.(2476-2478)gGg>gTg	p.G826V	PER3_ENST00000377532.3_Missense_Mutation_p.G834V|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	826	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCATGGGCTGCCCTTG	0.602																																					p.G826V		.											.	PER3-93	0			c.G2477T						.						93	94	94					1																	7887490		2203	4300	6503	SO:0001583	missense	8863	exon17			TGCATGGGCTGCC	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.2477G>T	1.37:g.7887490G>T	ENSP00000355031:p.Gly826Val	Somatic	53	1		WXS	Illumina GAIIx	Phase_I	80	66	NM_016831	0	0	0	0	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	5.961	0.361307	0.11296	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09817	2.94;2.95	3.21	-4.31	0.03698	.	3.840100	0.00397	N	0.000048	T	0.07458	0.0188	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44734	0.842;0.704;0.804;0.842	B;B;B;B	0.40864	0.302;0.13;0.342;0.302	T	0.21621	-1.0240	10	0.27082	T	0.32	.	2.8614	0.05588	0.185:0.3879:0.3078:0.1193	.	826;834;834;826	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	834;826;37	ENSP00000366755:G834V;ENSP00000355031:G826V	ENSP00000355031:G826V	G	+	2	0	PER3	7810077	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.449000	0.06812	-0.885000	0.03971	-0.378000	0.06908	GGG	.		0.602	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7887490	G	T	7887490	3	4	5	1	0	0	0	0	1	0	0	0	11770	1232	43	3	2543	3	PER3	1	7887490	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1353279	7887490	241363131	4	465											
UBE4B	10277	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	10197164	10197164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagccgaaattccctaCggagtgcttctttctcaccc	7	14	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:10197164C>T	ENST00000253251.8	+	16	2716	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	UBE4B_ENST00000343090.6_Missense_Mutation_p.T755M|UBE4B_ENST00000377157.3_Missense_Mutation_p.T510M					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)		AAATTCCCTACGGAGTGCTTC	0.463																																					p.T755M		.											.	UBE4B-229	0			c.C2264T						.						149	131	137					1																	10197164		2203	4300	6503	SO:0001583	missense	10277	exon17			TCCCTACGGAGTG	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.1877C>T	1.37:g.10197164C>T	ENSP00000253251:p.Thr626Met	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	66	57	NM_001105562	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353184	0.95830	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.59502	0.26;0.26;0.26	5.81	5.81	0.92471	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.88105	2.93	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	0.84001	0.0343	10	0.87932	D	0	-19.7281	20.0833	0.97789	0.0:1.0:0.0:0.0	.	626;755;626	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	M	626;510;755	ENSP00000253251:T626M;ENSP00000366362:T510M;ENSP00000343001:T755M	ENSP00000253251:T626M	T	+	2	0	UBE4B	10119751	1.000000	0.71417	0.863000	0.33907	0.977000	0.68977	7.770000	0.85390	2.756000	0.94617	0.655000	0.94253	ACG	.		0.463	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10197164	C	T	10197164	3	4	5	1	0	0	0	0	1	0	0	0	16932	536	19	1	2330	1	UBE4B	1	10197164	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2309674	10197164	239053457	5	466											
MASP2	10747	hgsc.bcm.edu	37	chr1	11105562	11105562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggtggtcgcaggtgggCgcctctcccggggccacctg	17	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:11105562C>T	ENST00000400897.3	-	4	462	c.447G>A	c.(445-447)gcG>gcA	p.A149A	MASP2_ENST00000400898.3_Silent_p.A149A	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	149	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGCAGGTGGGCGCCTCTCCCG	0.672																																					p.A149A	GBM(35;611 746 20780 22741 36496)	.											.	MASP2-94	0			c.G447A						.						35	36	36					1																	11105562		2202	4300	6502	SO:0001819	synonymous_variant	10747	exon4			GGTGGGCGCCTCT	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.447G>A	1.37:g.11105562C>T		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	134	115	NM_139208	0	0	0	0	0	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	CCDS123.1																																																																																			.		0.672	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		T	11105562	C	T	11105562	2	4	5	1	0	0	0	0	0	0	0	1	9361	755	27	1		1	MASP2	1	11105562	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	908398	11105562	238145059	6	467											
SPEN	23013	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	16254767	16254767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgatactacgatgatcctCgggaatacagggattacagg	11	9	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:16254767C>T	ENST00000375759.3	+	11	2236	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	678	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATGATCCTCGGGAATACAG	0.428																																					p.R678W		.											.	SPEN-298	0			c.C2032T						.						137	132	134					1																	16254767		2203	4300	6503	SO:0001583	missense	23013	exon11			GATCCTCGGGAAT		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.2032C>T	1.37:g.16254767C>T	ENSP00000364912:p.Arg678Trp	Somatic	230	2		WXS	Illumina GAIIx	Phase_I	162	149	NM_015001	0	0	0	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474473	0.43942	.	.	ENSG00000065526	ENST00000375759	T	0.11604	2.76	4.84	4.84	0.62591	.	.	.	.	.	T	0.22126	0.0533	L	0.34521	1.04	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00534	-1.1684	9	0.72032	D	0.01	-7.3918	13.153	0.59500	0.1596:0.8404:0.0:0.0	.	678	Q96T58	MINT_HUMAN	W	678	ENSP00000364912:R678W	ENSP00000364912:R678W	R	+	1	2	SPEN	16127354	0.990000	0.36364	1.000000	0.80357	0.968000	0.65278	2.734000	0.47368	2.514000	0.84764	0.563000	0.77884	CGG	.		0.428	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16254767	C	T	16254767	3	4	5	1	0	0	0	0	1	0	0	0	15085	875	31	1	2074	1	SPEN	1	16254767	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5149205	16254767	232995854	7	468											
ARHGEF10L	55160	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	17982377	17982377	+	Frame_Shift_Del	DEL	G	G	-													tgggtctctgctcccaggtcGggggcggacaggaaggcgca					rs374475787		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:17982377delG	ENST00000361221.3	+	24	2644	c.2485delG	c.(2485-2487)gggfs	p.G831fs	ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G826fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G792fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G604fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G534fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G792fs|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	831						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCCCAGGTCGGGGGCGGACA	0.657																																					p.G829fs		.											.	ARHGEF10L-292	0			c.2485delG						.						10	13	12					1																	17982377		2161	4228	6389	SO:0001589	frameshift_variant	55160	exon24			CAGGTCGGGGGCG	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2485delG	1.37:g.17982377delG	ENSP00000355060:p.Gly831fs	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	94	83	NM_018125	0	0	0	0	0	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	CCDS182.1																																																																																			.		0.657	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		-	17982377	G	-	17982377	7	5	5	1	0	1	0	1	0	0	0	0	895	1116	39	0	2575	0	ARHGEF10L	1	17982377	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	1727610	17982377	231268244	8	469											
MRTO4	51154	bcgsc.ca	37	chr1	19584004	19584004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccaaccgcacaaaggaGgaggtgaatgagtaagtact	11	8	1	2	rs1042380	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:19584004G>A	ENST00000330263.4	+	5	627	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	110					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCACAAAGGAGGAGGTGAATG	0.527													G|||	1259	0.251398	0.4932	0.183	5008	,	,		22095	0.1012		0.2266	False		,,,				2504	0.1534				p.E110E	GBM(192;2418 3032 7540 48714)	.											.	MRTO4-90	0			c.G330A						.	G		2091,2315	572.9+/-383.4	505,1081,617	147	142	144		330	-3.3	1	1	dbSNP_86	144	2104,6496	363.1+/-333.0	263,1578,2459	no	coding-synonymous	MRTO4	NM_016183.3		768,2659,3076	AA,AG,GG		24.4651,47.458,32.2543		110/240	19584004	4195,8811	2203	4300	6503	SO:0001819	synonymous_variant	51154	exon5			AAAGGAGGAGGTG	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.330G>A	1.37:g.19584004G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	73	5	NM_016183	0	0	0	0	0	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	ENST00000330263.4	37	CCDS191.1																																																																																			G|0.711;A|0.289		0.527	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		A	19584004	G	A	19584004	2	1	5	1	0	0	0	0	0	0	0	1	9890	991	35	3		3	MRTO4	1	19584004	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1601627	19584004	229666617	9	470											
EIF4G3	8672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21276548	21276548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggcagcaagatgagcGctctccacagtcccataaac	10	13	1	2	rs372335024		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:21276548G>A	ENST00000264211.8	-	7	797	c.603C>T	c.(601-603)agC>agT	p.S201S	EIF4G3_ENST00000374935.3_Silent_p.S201S|EIF4G3_ENST00000356916.3_Silent_p.S212S|EIF4G3_ENST00000400422.1_Silent_p.S201S|EIF4G3_ENST00000374937.3_Silent_p.S207S|EIF4G3_ENST00000374927.4_Silent_p.S201S|EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000602326.1_Silent_p.S207S	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	201					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAAGATGAGCGCTCTCCACAG	0.512																																					p.S212S		.											.	EIF4G3-91	0			c.C636T						.	G	,,,	0,4406		0,0,2203	67	66	66		600,621,636,603	4.8	1	1		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G3	NM_001198801.1,NM_001198802.1,NM_001198803.1,NM_003760.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	200/1622,207/1592,212/516,201/1586	21276548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8672	exon13			ATGAGCGCTCTCC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.603C>T	1.37:g.21276548G>A		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	93	44	NM_001198803	0	0	2	3	1	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																			.		0.512	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21276548	G	A	21276548	2	1	5	1	0	0	0	0	0	0	0	1	5054	1078	38	1		1	EIF4G3	1	21276548	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1692544	21276548	227974073	10	471											
SRRM1	10250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24993380	24993380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcccgcccctcctcctcGacggcgcaggactcccacac	7	22	1	0	rs370225206		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:24993380G>A	ENST00000323848.9	+	13	2018	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R580Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R577Q|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	568	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCCTCCTCGACGGCGCAGG	0.552																																					p.R568Q	Ovarian(68;897 1494 3282 17478)	.											.	SRRM1-93	0			c.G1703A						.	G	GLN/ARG	0,4406		0,0,2203	52	44	47		1703	5.7	0.9	1		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM1	NM_005839.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	568/905	24993380	1,13005	2203	4300	6503	SO:0001583	missense	10250	exon13			CTCCTCGACGGCG	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1703G>A	1.37:g.24993380G>A	ENSP00000326261:p.Arg568Gln	Somatic	509	0		WXS	Illumina GAIIx	Phase_I	395	149	NM_005839	0	0	18	34	16	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930526	0.73327	0.0	1.16E-4	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.61627	0.09;0.36;0.59	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000047	T	0.51075	0.1653	L	0.50333	1.59	0.80722	D	1	P;P	0.37997	0.614;0.48	B;B	0.26864	0.074;0.034	T	0.55256	-0.8169	10	0.48119	T	0.1	-1.7773	19.3453	0.94361	0.0:0.0:1.0:0.0	.	580;568	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	568;580;577	ENSP00000326261:R568Q;ENSP00000391430:R580Q;ENSP00000363510:R577Q	ENSP00000326261:R568Q	R	+	2	0	SRRM1	24865967	1.000000	0.71417	0.878000	0.34440	0.894000	0.52154	5.959000	0.70339	2.654000	0.90174	0.650000	0.86243	CGA	.		0.552	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		A	24993380	G	A	24993380	3	1	5	1	0	0	0	0	1	0	0	0	15215	1058	37	1	1753	1	SRRM1	1	24993380	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3716832	24993380	224257241	11	472											
C1orf172	126695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	27278436	27278436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagccgctggccatcccGccggctggggggtgcacgat	16	14	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:27278436G>A	ENST00000320567.5	-	2	524	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		146					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)		TGGCCATCCCGCCGGCTGGGG	0.627																																					p.R146W		.											.	C1orf172-154	0			c.C436T						.						25	28	27					1																	27278436		2203	4300	6503	SO:0001583	missense	126695	exon2			CATCCCGCCGGCT																												ENST00000320567.5:c.436C>T	1.37:g.27278436G>A	ENSP00000319179:p.Arg146Trp	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	108	8	NM_152365	0	0	0	0	0	Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787992	0.70337	.	.	ENSG00000175707	ENST00000320567	T	0.27256	1.68	4.83	4.83	0.62350	.	0.274240	0.34802	N	0.003666	T	0.35856	0.0946	L	0.29908	0.895	0.33557	D	0.596851	D	0.89917	1.0	D	0.70016	0.967	T	0.48151	-0.9060	10	0.87932	D	0	.	11.0699	0.47997	0.0:0.0:0.6825:0.3175	.	146	Q8NAX2	CA172_HUMAN	W	146	ENSP00000319179:R146W	ENSP00000319179:R146W	R	-	1	2	C1orf172	27151023	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.081000	0.50120	2.502000	0.84385	0.650000	0.86243	CGG	.		0.627	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			A	27278436	G	A	27278436	3	1	5	1	0	0	0	0	1	0	0	0	2020	1086	38	1	772	1	C1orf172	1	27278436	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2285056	27278436	221972185	12	473											
SLC9A1	6548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27429001	27429001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctccttggagcgctcGccagctatcagacacttctt	11	13	2	1	rs144261466		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:27429001G>A	ENST00000263980.3	-	8	2270	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.G226G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	565					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TGGAGCGCTCGCCAGCTATCA	0.577											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G565G		.											.	SLC9A1-91	0			c.C1695T						.	G		0,4406		0,0,2203	99	105	103		1695	-8	0.6	1	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A1	NM_003047.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		565/816	27429001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6548	exon8			GCGCTCGCCAGCT	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1695C>T	1.37:g.27429001G>A		Somatic	58	0	794	WXS	Illumina GAIIx	Phase_I	63	59	NM_003047	0	0	1	5	4	B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	CCDS295.1																																																																																			G|1.000;A|0.000		0.577	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		A	27429001	G	A	27429001	2	1	5	1	0	0	0	0	0	0	0	1	14754	1074	38	1		1	SLC9A1	1	27429001	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	150565	27429001	221821620	13	474											
ZSCAN20	7579	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	33954759	33954759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcccaaagatggggagcGttggagattgggaggtgaca	16	7	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:33954759G>A	ENST00000361328.3	+	4	802	c.649G>A	c.(649-651)Gtt>Att	p.V217I	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGGGGAGCGTTGGAGATTG	0.522																																					p.V217I		.											.	ZSCAN20-93	0			c.G649A						.						128	130	129					1																	33954759		2005	4162	6167	SO:0001583	missense	7579	exon4			GGGAGCGTTGGAG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.649G>A	1.37:g.33954759G>A	ENSP00000355053:p.Val217Ile	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	167	82	NM_145238	0	0	0	0	0	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440462	0.25900	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	6.03	-3.07	0.05363	Krueppel-associated box (1);	1.198700	0.05887	N	0.627579	T	0.36248	0.0960	L	0.47716	1.5	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.24977	-1.0145	9	0.22706	T	0.39	2.0E-4	7.0403	0.25017	0.4962:0.1199:0.3839:0.0	.	217;217	P17040-3;P17040	.;ZSC20_HUMAN	I	217;151;151	.	ENSP00000324450:V217I	V	+	1	0	ZSCAN20	33727346	0.000000	0.05858	0.009000	0.14445	0.998000	0.95712	-0.657000	0.05335	-0.386000	0.07821	0.555000	0.69702	GTT	.		0.522	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		A	33954759	G	A	33954759	3	1	5	1	0	0	0	0	1	0	0	0	18280	1145	40	1	659	1	ZSCAN20	1	33954759	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6525758	33954759	215295862	14	475											
CSF3R	1441	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-													ttgttgctattgctcgcgctGggggggcccaggccccactc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:36935323delG	ENST00000373106.1	-	11	1951	c.1404delC	c.(1402-1404)cccfs	p.P468fs	CSF3R_ENST00000418048.2_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000361632.4_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000440588.2_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000331941.5_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000373104.1_Frame_Shift_Del_p.P468fs|CSF3R_ENST00000373103.1_Frame_Shift_Del_p.P468fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	468	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCTCGCGCTGGGGGGGCCCA	0.632																																					p.P468fs		.											.	CSF3R-515	0			c.1404delC						.						74	78	77					1																	36935323		2203	4300	6503	SO:0001589	frameshift_variant	1441	exon11			CGCGCTGGGGGGG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1404delC	1.37:g.36935323delG	ENSP00000362198:p.Pro468fs	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	56	39	NM_156039	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000373106.1	37	CCDS413.1																																																																																			.		0.632	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		-	36935323	G	-	36935323	7	5	5	1	0	1	0	1	0	0	0	0	3946	1335	47	0	1324	0	CSF3R	1	36935323	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	2980564	36935323	212315298	15	476											
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39876656	39876656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagaatcagaagctgTagcaacaagtggtaacacag	11	8	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:39876656T>C	ENST00000530275.1	+	1	506	c.311T>C	c.(310-312)gTa>gCa	p.V104A	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	104	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									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)			TCAGAAGCTGTAGCAACAAGT	0.453											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V240A		.											.	.	0			c.T719C						.						52	52	52					1																	39876656		1909	4136	6045	SO:0001583	missense	643314	exon1			AAGCTGTAGCAAC			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.311T>C	1.37:g.39876656T>C	ENSP00000431179:p.Val104Ala	Somatic	147	0	889	WXS	Illumina GAIIx	Phase_I	100	77	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.102061	0.00360	.	.	ENSG00000255103	ENST00000530275	T	0.20598	2.06	4.07	1.05	0.20165	.	.	.	.	.	T	0.05227	0.0139	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	9	0.05351	T	0.99	.	4.226	0.10580	0.1522:0.4857:0.0:0.3621	.	104	O94854	K0754_HUMAN	A	104	ENSP00000431179:V104A	ENSP00000431179:V104A	V	+	2	0	RP4-562N20.1	39649243	0.700000	0.27796	0.980000	0.43619	0.725000	0.41563	0.402000	0.20965	0.097000	0.17492	-0.252000	0.11476	GTA	.		0.453	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		C	39876656	T	C	39876656	3	2	5	1	0	0	0	0	1	0	0	0	8219	1638	57	4	721	4	KIAA0754	1	39876656	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	2941333	39876656	209373965	16	477											
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39880128	39880128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgcctctggctgcaacCgctggattaaattcagatga	10	9	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:39880128C>T	ENST00000530275.1	+	1	3978	c.3783C>T	c.(3781-3783)acC>acT	p.T1261T	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1261										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)			TGGCTGCAACCGCTGGATTAA	0.463																																					p.T1397T		.											.	.	0			c.C4191T						.						71	72	72					1																	39880128		1950	4142	6092	SO:0001819	synonymous_variant	643314	exon1			TGCAACCGCTGGA			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.3783C>T	1.37:g.39880128C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	143	123	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37																																																																																				.		0.463	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39880128	C	T	39880128	2	4	5	1	0	0	0	0	0	0	0	1	8219	639	23	1		1	KIAA0754	1	39880128	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3472	39880128	209370493	17	478											
TMEM125	128218	hgsc.bcm.edu	37	chr1	43738798	43738798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccctggccgggctggcCgccgcccctgcccctgctcg	13	21	0	1	rs139782659		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:43738798C>T	ENST00000432792.2	+	4	975	c.405C>T	c.(403-405)gcC>gcT	p.A135A	TMEM125_ENST00000439858.1_Silent_p.A135A			Q96AQ2	TM125_HUMAN	transmembrane protein 125	135						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGGGCTGGCCGCCGCCCCTG	0.711																																					p.A135A		.											.	TMEM125-153	0			c.C405T						.	C		3,4391		0,3,2194	15	17	16		405	-3.5	0.1	1	dbSNP_134	16	0,8562		0,0,4281	no	coding-synonymous	TMEM125	NM_144626.2		0,3,6475	TT,TC,CC		0.0,0.0683,0.0232		135/220	43738798	3,12953	2197	4281	6478	SO:0001819	synonymous_variant	128218	exon4			GCTGGCCGCCGCC	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.405C>T	1.37:g.43738798C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	31	27	NM_144626	0	0	0	0	0	D3DPX1	Silent	SNP	ENST00000432792.2	37	CCDS480.1																																																																																			C|1.000;T|0.000		0.711	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		T	43738798	C	T	43738798	2	4	5	1	0	0	0	0	0	0	0	1	16084	639	23	1		1	TMEM125	1	43738798	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3858670	43738798	205511823	18	479											
ARTN	9048	hgsc.bcm.edu	37	chr1	44402375	44402375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggtctccttcatggacGtcaacagcacctggagaacc	10	13	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:44402375G>A	ENST00000372359.5	+	5	1383	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	ARTN_ENST00000438616.3_Missense_Mutation_p.V218I|ARTN_ENST00000414809.3_Missense_Mutation_p.V209I|ARTN_ENST00000372354.3_Missense_Mutation_p.V201I|ARTN_ENST00000498139.2_Missense_Mutation_p.V209I	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	201					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTTCATGGACGTCAACAGCAC	0.721																																					p.V209I		.											.	ARTN-90	0			c.G625A						.						13	13	13					1																	44402375		2182	4273	6455	SO:0001583	missense	9048	exon4			ATGGACGTCAACA	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"Endogenous ligands"	727	protein-coding gene	gene with protein product	"neublastin", "neurotrophic factor"	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.601G>A	1.37:g.44402375G>A	ENSP00000361434:p.Val201Ile	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	85	30	NM_001136215	0	0	0	0	0	D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	CCDS501.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076470	0.76415	.	.	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000498139;ENST00000372354;ENST00000438616	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	4.22	4.22	0.49857	Transforming growth factor-beta, C-terminal (3);	0.088348	0.44483	D	0.000458	D	0.83677	0.5306	L	0.43152	1.355	0.42198	D	0.991758	D;P;D	0.67145	0.995;0.939;0.996	P;B;P	0.53809	0.616;0.258;0.735	D	0.83695	0.0179	10	0.35671	T	0.21	-17.2906	16.2041	0.82108	0.0:0.0:1.0:0.0	.	218;209;201	Q5T4W7-2;Q5T4W7-3;Q5T4W7	.;.;ARTN_HUMAN	I	201;209;209;201;218	ENSP00000361434:V201I;ENSP00000387435:V209I;ENSP00000436727:V209I;ENSP00000361429:V201I;ENSP00000391998:V218I	ENSP00000361429:V201I	V	+	1	0	ARTN	44174962	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.152000	0.71812	1.916000	0.55485	0.471000	0.43371	GTC	.		0.721	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000020713.2	NM_057090		A	44402375	G	A	44402375	3	1	5	1	0	0	0	0	1	0	0	0	1002	1145	40	1	722	1	ARTN	1	44402375	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	663577	44402375	204848246	19	480											
SLC5A9	200010	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	48701436	48701436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgccgtgatcatggccGctctcatgagctcactcacc	9	14	4	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:48701436G>A	ENST00000438567.2	+	10	1229	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	SLC5A9_ENST00000533824.1_Missense_Mutation_p.A414T|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A418T	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	393					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GATCATGGCCGCTCTCATGAG	0.582																																					p.A418T		.											.	SLC5A9-93	0			c.G1252A						.						124	92	103					1																	48701436		2203	4300	6503	SO:0001583	missense	200010	exon11			ATGGCCGCTCTCA	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1177G>A	1.37:g.48701436G>A	ENSP00000401730:p.Ala393Thr	Somatic	313	0		WXS	Illumina GAIIx	Phase_I	255	15	NM_001135181	0	0	0	0	0	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	36	5.640512	0.96693	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	D	0.97344	0.9959	10	0.87932	D	0	.	18.2819	0.90101	0.0:0.0:1.0:0.0	.	414;393;418	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	414;393;418	ENSP00000431900:A414T;ENSP00000401730:A393T;ENSP00000236495:A418T	ENSP00000236495:A418T	A	+	1	0	SLC5A9	48474023	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.869000	0.99810	2.560000	0.86352	0.655000	0.94253	GCT	.		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		A	48701436	G	A	48701436	3	1	5	1	0	0	0	0	1	0	0	0	14717	1087	38	1	1294	1	SLC5A9	1	48701436	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4299061	48701436	200549185	20	481											
PRKAA2	5563	broad.mit.edu;bcgsc.ca	37	chr1	57173340	57173341	+	Frame_Shift_Ins	INS	-	-	T													ctgggcagtcacaccatggaINStttttttgaaatgtgtgcca							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:57173340_57173341insT	ENST00000371244.4	+	9	1679_1680	c.1613_1614insT	c.(1612-1617)gattttfs	p.DF538fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	538					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)	p.E541fs*1(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CACACCATGGATTTTTTTGAAA	0.421																																					p.D538fs		.											.	PRKAA2-885	2	Insertion - Frameshift(2)	large_intestine(2)	c.1613_1614insT						.																																			SO:0001589	frameshift_variant	5563	exon9			CCATGGATTTTTT	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.1620dupT	1.37:g.57173347_57173347dupT	ENSP00000360290:p.Asp538fs	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	88	9	NM_006252	0	0	0	0	0	Q9H1E8|Q9UD43	Frame_Shift_Ins	INS	ENST00000371244.4	37	CCDS605.1																																																																																			.		0.421	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		T	57173341	-	T	57173340	7	5	5	1	0	1	1	0	0	0	0	0	12536	333	12	0	1647	0	PRKAA2	1	57173340	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	8471904	57173340	192077281	21	482											
C8B	732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	57415368	57415368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttctctgtgacattgcGttcaaaatctgagtatgatt	7	7	3	3	rs150146785	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:57415368G>A	ENST00000371237.4	-	6	790	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	C8B_ENST00000535057.1_Missense_Mutation_p.R180C|C8B_ENST00000543257.1_Missense_Mutation_p.R190C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	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)		p.R242C(1)|p.R242G(1)		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						GTGACATTGCGTTCAAAATCT	0.338													G|||	5	0.000998403	0.003	0.0014	5008	,	,		21122	0		0	False		,,,				2504	0				p.R242C		.											.	C8B-92	2	Substitution - Missense(2)	ovary(1)|kidney(1)	c.C724T						.	G	CYS/ARG	10,4394	16.8+/-37.8	0,10,2192	88	87	87		724	3.2	0.1	1	dbSNP_134	87	0,8598		0,0,4299	yes	missense	C8B	NM_000066.2	180	0,10,6491	AA,AG,GG		0.0,0.2271,0.0769	probably-damaging	242/592	57415368	10,12992	2202	4299	6501	SO:0001583	missense	732	exon6			CATTGCGTTCAAA	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.724C>T	1.37:g.57415368G>A	ENSP00000360281:p.Arg242Cys	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	60	51	NM_000066	0	0	0	0	0	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.89	2.967081	0.53507	0.002271	0.0	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29142	1.74;1.75;1.58	5.19	3.19	0.36642	Membrane attack complex component/perforin (MACPF) domain (1);	1.053100	0.07284	N	0.871299	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	0.999997	D;D;D	0.60160	0.987;0.987;0.978	P;P;B	0.46825	0.528;0.528;0.328	T	0.24476	-1.0159	10	0.72032	D	0.01	-0.8703	9.8148	0.40846	0.0801:0.0:0.7048:0.2151	.	190;180;242	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	242;190;180	ENSP00000360281:R242C;ENSP00000442548:R190C;ENSP00000440113:R180C	ENSP00000360281:R242C	R	-	1	0	C8B	57187956	0.009000	0.17119	0.125000	0.21846	0.376000	0.30014	-0.028000	0.12350	1.318000	0.45170	0.591000	0.81541	CGC	G|0.999;A|0.001		0.338	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57415368	G	A	57415368	3	1	5	1	0	0	0	0	1	0	0	0	2424	1145	40	1	1079	1	C8B	1	57415368	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	242028	57415368	191835253	22	483											
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	62940939	62940939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcattttggggtctgcGggatcctgatgtgttgcaaa	14	6	1	2	rs202231787		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:62940939G>A	ENST00000340370.5	-	46	5969	c.5952C>T	c.(5950-5952)ccC>ccT	p.P1984P	DOCK7_ENST00000251157.5_Silent_p.P2004P|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2015	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.P1984P(2)		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						TGGGGTCTGCGGGATCCTGAT	0.438													G|||	1	0.000199681	0	0	5008	,	,		17183	0		0	False		,,,				2504	0.001				p.P2004P		.											.	DOCK7-92	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.C6012T						.	G		0,4406		0,0,2203	191	168	176		5952	-8	0.9	1		176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DOCK7	NM_033407.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1984/2110	62940939	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85440	exon46			GTCTGCGGGATCC		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.5952C>T	1.37:g.62940939G>A		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	108	10	NM_001271999	0	0	3	4	1	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017430	0.07681	0.0	2.33E-4	ENSG00000116641	ENST00000454575	.	.	.	5.73	-7.99	0.01131	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50224	-0.8853	4	.	.	.	.	6.132	0.20211	0.2519:0.0534:0.4767:0.218	.	.	.	.	C	1178	.	.	R	-	1	0	DOCK7	62713527	0.001000	0.12720	0.901000	0.35422	0.484000	0.33280	-1.683000	0.01934	-1.205000	0.02645	-2.337000	0.00247	CGC	G|0.999;A|0.001		0.438	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	62940939	G	A	62940939	2	1	5	1	0	0	0	0	0	0	0	1	4706	1103	39	1		1	DOCK7	1	62940939	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5525571	62940939	186309682	23	484											
FNDC7	163479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	109273459	109273459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccactgcctcctaggatgCatcacatgtggcatcaatta	7	12	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:109273459C>T	ENST00000370017.3	+	9	2065	c.1788C>T	c.(1786-1788)tgC>tgT	p.C596C	FNDC7_ENST00000271311.2_Silent_p.C597C	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	596	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCCTAGGATGCATCACATGTG	0.458																																					p.C596C		.											.	FNDC7-92	0			c.C1788T						.						161	129	140					1																	109273459		2203	4300	6503	SO:0001819	synonymous_variant	163479	exon9			AGGATGCATCACA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1788C>T	1.37:g.109273459C>T		Somatic	178	0		WXS	Illumina GAIIx	Phase_I	134	8	NM_001144937	0	0	0	0	0	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192289	0.21954	.	.	ENSG00000143107	ENST00000445274	.	.	.	6.05	1.11	0.20524	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-18.7653	10.3094	0.43699	0.0:0.5519:0.0:0.4481	.	.	.	.	Y	372	.	.	H	+	1	0	FNDC7	109074982	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	1.157000	0.31724	0.166000	0.19597	0.655000	0.94253	CAT	.		0.458	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		T	109273459	C	T	109273459	2	4	5	1	0	0	0	0	0	0	0	1	5995	718	25	3		3	FNDC7	1	109273459	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	46332520	109273459	139977162	24	485											
MYBPHL	343263	ucsc.edu;bcgsc.ca	37	chr1	109839774	109839774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcgctgaagccccaaacGtccaccagcttaatactctg	8	14	1	1	rs373917531		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:109839774G>A	ENST00000357155.1	-	4	517	c.468C>T	c.(466-468)gaC>gaT	p.D156D	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	156	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGCCCCAAACGTCCACCAGCT	0.552																																					p.D156D		.											.	MYBPHL-92	0			c.C468T						.	G		2,4404	4.2+/-10.8	0,2,2201	135	137	137		468	-4	0.8	1		137	0,8600		0,0,4300	no	coding-synonymous	MYBPHL	NM_001010985.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		156/355	109839774	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	343263	exon4			CCAAACGTCCACC	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.468C>T	1.37:g.109839774G>A		Somatic	196	3		WXS	Illumina GAIIx	Phase_I	163	150	NM_001010985	0	0	0	0	0	B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	CCDS30793.1																																																																																			.		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		A	109839774	G	A	109839774	2	1	5	1	0	0	0	0	0	0	0	1	10053	1136	40	1		1	MYBPHL	1	109839774	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	566315	109839774	139410847	25	486											
CSF1	1435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110467421	110467421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagagcctcagagagcGgattctcccttggagcaacc	10	13	3	2	rs376460825		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:110467421G>A	ENST00000329608.6	+	7	1984	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	CSF1_ENST00000369801.1_Silent_p.A415A|CSF1_ENST00000369802.3_Silent_p.A531A|CSF1_ENST00000420111.2_Silent_p.A233A|CSF1_ENST00000344188.5_Silent_p.A415A	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	531			A -> V (in dbSNP:rs2229167).		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)		CTCAGAGAGCGGATTCTCCCT	0.627																																					p.A531A		.											.	CSF1-91	0			c.G1593A						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	33	31	32		1593,1245,699,1593	1.3	0	1		32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	531/555,415/439,233/257,531/555	110467421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1435	exon7			GAGAGCGGATTCT	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.1593G>A	1.37:g.110467421G>A		Somatic	248	0		WXS	Illumina GAIIx	Phase_I	163	67	NM_000757	0	0	0	0	0	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	CCDS816.1																																																																																			.		0.627	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		A	110467421	G	A	110467421	2	1	5	1	0	0	0	0	0	0	0	1	3940	1103	39	1		1	CSF1	1	110467421	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	627647	110467421	138783200	26	487											
MOV10	4343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	113237220	113237220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgtggcacctcgggacGtcccgctgctgccctcagat	11	16	1	1	rs112768939	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:113237220G>A	ENST00000413052.2	+	9	1831	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	MOV10_ENST00000357443.2_Missense_Mutation_p.V481I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.V481I|MOV10_ENST00000369644.1_Missense_Mutation_p.V425I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	481					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)		ACCTCGGGACGTCCCGCTGCT	0.647													G|||	2	0.000399361	8e-04	0	5008	,	,		16002	0.001		0	False		,,,				2504	0				p.V481I		.											.	MOV10-95	0			c.G1441A						.						28	26	27					1																	113237220		2203	4300	6503	SO:0001583	missense	4343	exon9			CGGGACGTCCCGC	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.1441G>A	1.37:g.113237220G>A	ENSP00000399797:p.Val481Ile	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	107	94	NM_020963	0	0	0	3	3	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.176	-0.639666	0.03557	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.09	1.04	0.20106	.	0.813456	0.11338	N	0.574313	T	0.61602	0.2360	N	0.04508	-0.205	0.18873	N	0.999984	B;B;B	0.19200	0.0;0.034;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.53251	-0.8465	10	0.29301	T	0.29	-4.8165	10.3404	0.43875	0.3809:0.0:0.6191:0.0	.	425;481;481	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	I	481;481;481;425;481;419	ENSP00000399797:V481I;ENSP00000358659:V481I;ENSP00000358658:V425I;ENSP00000350028:V481I	ENSP00000285733:V481I	V	+	1	0	MOV10	113038743	0.000000	0.05858	0.032000	0.17829	0.012000	0.07955	-0.084000	0.11268	-0.032000	0.13758	-2.069000	0.00389	GTC	A|0.000;C|0.000;G|0.999		0.647	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		A	113237220	G	A	113237220	3	1	5	1	0	0	0	0	1	0	0	0	9756	1145	40	1	1471	1	MOV10	1	113237220	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2769799	113237220	136013401	27	488											
GDAP2	54834	hgsc.bcm.edu;bcgsc.ca	37	chr1	118439565	118439568	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													gcaaaagcatgagagccaatGaaagagagatcaactcccaa							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAAA	GAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:118439565_118439568delGAAA	ENST00000369443.5	-	8	1089_1092	c.840_843delTTTC	c.(838-843)tctttcfs	p.SF280fs	GDAP2_ENST00000369442.3_Frame_Shift_Del_p.SF280fs|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	280					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GAGAGCCAATGAAAGAGAGATCAA	0.407																																					p.280_281del		.											.	GDAP2-92	0			c.840_843del						.																																			SO:0001589	frameshift_variant	54834	exon8			GCCAATGAAAGAG	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.840_843delTTTC	1.37:g.118439565_118439568delGAAA	ENSP00000358451:p.Ser280fs	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	53	46	NM_017686	0	0	0	0	0	Q96DZ0	Frame_Shift_Del	DEL	ENST00000369443.5	37	CCDS897.1																																																																																			.		0.407	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		-	118439568	GAAA	-	118439565	7	5	5	1	0	1	0	1	0	0	0	0	6334	1281	45	0	723	0	GDAP2	1	118439565	Frame_Shift_Del	DEL	GAAA	TCGA-OR-A5J5-01A-11D-A29I-10	5202345	118439565	130811056	28	489											
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	150531111	150531111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctactgcctggttccacagcGactggagctccaaggtgagc	12	13	0	1	rs559596593		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:150531111G>A	ENST00000369038.2	+	13	2746	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.D849N|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.D872N|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.D849N			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	849	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTTCCACAGCGACTGGAGCTC	0.612																																					p.D849N		.											.	ADAMTSL4-92	0			c.G2545A						.						59	61	60					1																	150531111		2203	4299	6502	SO:0001583	missense	54507	exon15			CACAGCGACTGGA	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2545G>A	1.37:g.150531111G>A	ENSP00000358034:p.Asp849Asn	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	62	7	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495818	0.85069	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.61627	0.09;0.12;0.12;0.12	5.46	5.46	0.80206	.	.	.	.	.	T	0.53530	0.1802	L	0.41356	1.27	0.43114	D	0.994827	D;D;D;D	0.69078	0.972;0.967;0.972;0.997	P;P;P;P	0.54590	0.544;0.631;0.544;0.756	T	0.53486	-0.8432	9	0.44086	T	0.13	.	16.7863	0.85575	0.0:0.0:1.0:0.0	.	810;872;849;849	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	N	849;849;387;872;849	ENSP00000358037:D849N;ENSP00000271643:D849N;ENSP00000358035:D872N;ENSP00000358034:D849N	ENSP00000271643:D849N	D	+	1	0	ADAMTSL4	148797735	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	4.253000	0.58791	2.562000	0.86427	0.462000	0.41574	GAC	.		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150531111	G	A	150531111	3	1	5	1	0	0	0	0	1	0	0	0	277	1058	37	1	2595	1	ADAMTSL4	1	150531111	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	32091546	150531111	98719510	29	490											
HRNR	388697	bcgsc.ca	37	chr1	152187474	152187474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagactcatatgggccacGgctggaagaacgacctgagc	14	11	1	3	rs143987598	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:152187474G>A	ENST00000368801.2	-	3	6706	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2211					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)			TATGGGCCACGGCTGGAAGAA	0.597																																					p.R2211C		.											.	HRNR-93	0			c.C6631T						.	G	CYS/ARG	18,2920		0,18,1451	19	29	26		6631	-5.9	0	1	dbSNP_134	26	0,6180		0,0,3090	no	missense	HRNR	NM_001009931.1	180	0,18,4541	AA,AG,GG		0.0,0.6127,0.1974	benign	2211/2851	152187474	18,9100	1469	3090	4559	SO:0001583	missense	388697	exon3			GGCCACGGCTGGA	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.6631C>T	1.37:g.152187474G>A	ENSP00000357791:p.Arg2211Cys	Somatic	388	1		WXS	Illumina GAIIx	Phase_I	533	61	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.426	0.263675	0.10294	0.006127	0.0	ENSG00000197915	ENST00000368801	T	0.18016	2.24	2.93	-5.86	0.02304	.	.	.	.	.	T	0.02533	0.0077	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.41342	-0.9514	9	0.49607	T	0.09	.	1.8279	0.03125	0.3734:0.1354:0.3567:0.1344	.	2211	Q86YZ3	HORN_HUMAN	C	2211	ENSP00000357791:R2211C	ENSP00000357791:R2211C	R	-	1	0	HRNR	150454098	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.564000	0.02152	-1.493000	0.01835	-0.358000	0.07595	CGT	G|0.999;A|0.001		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152187474	G	A	152187474	3	1	5	1	0	0	0	0	1	0	0	0	7386	1116	39	1	1925	1	HRNR	1	152187474	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1656363	152187474	97063147	30	491											
TPM3	7170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	154141804	154141804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcatgtcattgagggcGtggtccagctcctcgctaat	13	10	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:154141804G>A	ENST00000368530.2	-	9	1023	c.831C>T	c.(829-831)caC>caT	p.H277H	TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000328159.4_Silent_p.H240H|RN7SL431P_ENST00000582918.1_RNA	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	277					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)					CATTGAGGGCGTGGTCCAGCT	0.532			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																p.H277H		.		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"E, L"	.	TPM3-416	0			c.C831T						.						191	179	183					1																	154141804		2203	4300	6503	SO:0001819	synonymous_variant	7170	exon9			GAGGGCGTGGTCC	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.831C>T	1.37:g.154141804G>A		Somatic	253	0		WXS	Illumina GAIIx	Phase_I	161	77	NM_152263	0	0	0	0	0	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	CCDS41403.1																																																																																			.		0.532	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		A	154141804	G	A	154141804	2	1	5	1	0	0	0	0	0	0	0	1	16455	1136	40	1		1	TPM3	1	154141804	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1954330	154141804	95108817	31	492											
ARHGEF11	9826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156908212	156908212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagaaagttattacccGtagcctttgttccgccttcc	8	12	0	1	rs141649554		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:156908212G>A	ENST00000361409.2	-	37	4812	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M	MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.T1397M|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T773M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1357					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)					GTTATTACCCGTAGCCTTTGT	0.587																																					p.T1397M		.											.	ARHGEF11-233	0			c.C4190T						.	G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	112	97	102		4070,4190	5.3	1	1	dbSNP_134	102	0,8600		0,0,4300	yes	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	1357/1523,1397/1563	156908212	2,13004	2203	4300	6503	SO:0001583	missense	9826	exon38			TTACCCGTAGCCT	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.4070C>T	1.37:g.156908212G>A	ENSP00000354644:p.Thr1357Met	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	125	110	NM_198236	0	0	0	0	0	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991631	0.54041	4.54E-4	0.0	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.66280	-0.2;-0.2;-0.11	5.35	5.35	0.76521	.	0.546304	0.16818	N	0.198297	T	0.39462	0.1079	N	0.19112	0.55	0.32873	D	0.509563	D;P;P	0.63046	0.992;0.899;0.939	P;B;P	0.47015	0.534;0.333;0.534	T	0.48234	-0.9053	10	0.59425	D	0.04	-26.3255	11.6418	0.51237	0.0:0.0:0.8226:0.1774	.	773;1357;1397	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1397;1357;773	ENSP00000357177:T1397M;ENSP00000354644:T1357M;ENSP00000313470:T773M	ENSP00000313470:T773M	T	-	2	0	ARHGEF11	155174836	0.997000	0.39634	0.999000	0.59377	0.953000	0.61014	3.331000	0.52075	2.504000	0.84457	0.655000	0.94253	ACG	G|1.000;A|0.000		0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156908212	G	A	156908212	3	1	5	1	0	0	0	0	1	0	0	0	896	1145	40	1	514	1	ARHGEF11	1	156908212	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2766408	156908212	92342409	32	493											
ATP1A2	477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160100011	160100011	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggcaaggagatcccgctCgacaaggagatgcaagatgc	14	10	0	3	rs371520433		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:160100011C>T	ENST00000361216.3	+	12	1670	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	ATP1A2_ENST00000392233.3_Silent_p.L527L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	527					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)			AGATCCCGCTCGACAAGGAGA	0.607																																					p.L527L		.											.	ATP1A2-518	0			c.C1581T						.						82	81	81					1																	160100011		2203	4300	6503	SO:0001819	synonymous_variant	477	exon12			CCCGCTCGACAAG	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.1581C>T	1.37:g.160100011C>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	66	61	NM_000702	0	0	0	0	0	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	8.255	0.809971	0.16537	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.61	-4.0	0.04057	.	.	.	.	.	T	0.29556	0.0737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37407	-0.9707	4	.	.	.	.	4.9546	0.14033	0.0774:0.3287:0.4022:0.1917	.	.	.	.	L	238	.	.	S	+	2	0	ATP1A2	158366635	1.000000	0.71417	0.121000	0.21740	0.859000	0.49053	0.823000	0.27366	-1.031000	0.03308	0.511000	0.50034	TCG	.		0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160100011	C	T	160100011	2	4	5	1	0	0	0	0	0	0	0	1	1130	871	31	1		1	ATP1A2	1	160100011	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3191799	160100011	89150610	33	494											
USP21	27005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161130593	161130593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacgacctctgcctcccCggccaggtctgcctgatgaa	10	15	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:161130593C>T	ENST00000289865.8	+	2	384	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.R55W|USP21_ENST00000368002.3_Missense_Mutation_p.R55W	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	55					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)			TCTGCCTCCCCGGCCAGGTCT	0.647																																					p.R55W		.											.	USP21-660	0			c.C163T						.						53	55	54					1																	161130593		2203	4300	6503	SO:0001583	missense	27005	exon3			CCTCCCCGGCCAG	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.163C>T	1.37:g.161130593C>T	ENSP00000289865:p.Arg55Trp	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	63	57	NM_001014443	0	0	0	6	6	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507052	0.64410	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.18502	2.37;2.37;2.21	5.14	3.19	0.36642	.	1.787690	0.03110	N	0.162393	T	0.17365	0.0417	N	0.19112	0.55	0.33739	D	0.619256	D	0.89917	1.0	D	0.75020	0.985	T	0.06570	-1.0819	10	0.87932	D	0	.	12.0943	0.53747	0.4871:0.5128:0.0:0.0	.	55	Q9UK80	UBP21_HUMAN	W	55	ENSP00000356981:R55W;ENSP00000289865:R55W;ENSP00000356980:R55W	ENSP00000289865:R55W	R	+	1	2	USP21	159397217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.333000	0.33816	0.673000	0.31224	0.561000	0.74099	CGG	.		0.647	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161130593	C	T	161130593	3	4	5	1	0	0	0	0	1	0	0	0	17102	643	23	1	165	1	USP21	1	161130593	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1030582	161130593	88120028	34	495											
DUSP27	92235	bcgsc.ca	37	chr1	167096395	167096395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctgatggggacacgaCgtcagtactgagcacccaga	13	12	1	3	rs76205550	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:167096395C>T	ENST00000361200.2	+	6	2193	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	DUSP27_ENST00000271385.5_Missense_Mutation_p.T676M|DUSP27_ENST00000443333.1_Missense_Mutation_p.T676M|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGGACACGACGTCAGTACTG	0.632													C|||	73	0.0145767	0.0552	0	5008	,	,		17886	0		0	False		,,,				2504	0				p.T676M		.											.	DUSP27-71	0			c.C2027T						.	C	MET/THR	191,4215	121.7+/-159.2	3,185,2015	48	49	48		2027	-3.2	0	1	dbSNP_131	48	3,8597	1.2+/-3.3	0,3,4297	yes	missense	DUSP27	NM_001080426.1	81	3,188,6312	TT,TC,CC		0.0349,4.335,1.4916	benign	676/1159	167096395	194,12812	2203	4300	6503	SO:0001583	missense	92235	exon5			ACACGACGTCAGT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2027C>T	1.37:g.167096395C>T	ENSP00000354483:p.Thr676Met	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	238	8	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	C	0.218	-1.030589	0.02045	0.04335	3.49E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02974	4.09;4.09;4.09	4.58	-3.17	0.05202	.	1.130470	0.06748	N	0.779599	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.38643	T	0.18	-2.0627	15.3088	0.74014	0.0944:0.4151:0.4904:0.0	.	676	Q5VZP5	DUS27_HUMAN	M	676	ENSP00000354483:T676M;ENSP00000271385:T676M;ENSP00000404874:T676M	ENSP00000271385:T676M	T	+	2	0	DUSP27	165363019	0.005000	0.15991	0.000000	0.03702	0.037000	0.13140	0.716000	0.25836	-0.408000	0.07565	0.643000	0.83706	ACG	C|0.984;T|0.016		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167096395	C	T	167096395	3	4	5	1	0	0	0	0	1	0	0	0	4838	536	19	1	2045	1	DUSP27	1	167096395	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5965802	167096395	82154226	35	496											
FAM5B	57795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	177245455	177245455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgactgctggtgcaagtgCagccccaccttccctgaatg	10	13	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:177245455C>T	ENST00000361539.4	+	6	1209	c.897C>T	c.(895-897)tgC>tgT	p.C299C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	299					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGTGCAAGTGCAGCCCCACCT	0.582																																					p.C299C		.											.	FAM5B-28	0			c.C897T						.						82	63	70					1																	177245455		2203	4300	6503	SO:0001819	synonymous_variant	57795	exon6			CAAGTGCAGCCCC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.897C>T	1.37:g.177245455C>T		Somatic	427	0		WXS	Illumina GAIIx	Phase_I	396	175	NM_021165	0	0	0	0	0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																			.		0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		T	177245455	C	T	177245455	2	4	5	1	0	0	0	0	0	0	0	1	5615	718	25	3		3	FAM5B	1	177245455	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	10149060	177245455	72005166	36	497											
KIAA1614	57710	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	180914481	180914481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccctcagtgtggaggaCgtgggtgctcccagcctggc	16	13	1	0	rs369477801		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:180914481C>T	ENST00000367588.4	+	9	3385	c.3330C>T	c.(3328-3330)gaC>gaT	p.D1110D	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Silent_p.D731D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1110										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTGTGGAGGACGTGGGTGCTC	0.672																																					p.D1110D		.											.	KIAA1614-26	0			c.C3330T						.	C		0,4132		0,0,2066	47	52	50		3330	-8.7	0.7	1		50	1,8355		0,1,4177	no	coding-synonymous	KIAA1614	NM_020950.1		0,1,6243	TT,TC,CC		0.012,0.0,0.0080		1110/1191	180914481	1,12487	2066	4178	6244	SO:0001819	synonymous_variant	57710	exon9			GGAGGACGTGGGT	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.3330C>T	1.37:g.180914481C>T		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	48	43	NM_020950	0	0	0	0	0	Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	CCDS41442.1																																																																																			.		0.672	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180914481	C	T	180914481	2	4	5	1	0	0	0	0	0	0	0	1	8275	535	19	1		1	KIAA1614	1	180914481	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3669026	180914481	68336140	37	498											
ATP2B4	493	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	203682343	203682343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagcttcgggtcctggcGcgatcttctcccactgacaa	9	15	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:203682343G>A	ENST00000357681.5	+	14	3385	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	ATP2B4_ENST00000341360.2_Silent_p.A754A|ATP2B4_ENST00000391954.2_Silent_p.A754A|ATP2B4_ENST00000367219.3_Silent_p.A742A|ATP2B4_ENST00000367218.3_Silent_p.A754A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	754					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGTCCTGGCGCGATCTTCTC	0.542																																					p.A754A		.											.	ATP2B4-517	0			c.G2262A						.						189	175	180					1																	203682343		2203	4300	6503	SO:0001819	synonymous_variant	493	exon14			CCTGGCGCGATCT	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2262G>A	1.37:g.203682343G>A		Somatic	200	1		WXS	Illumina GAIIx	Phase_I	119	41	NM_001001396	0	0	5	5	0	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	CCDS1440.1																																																																																			.		0.542	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		A	203682343	G	A	203682343	2	1	5	1	0	0	0	0	0	0	0	1	1143	1074	38	1		1	ATP2B4	1	203682343	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	22767862	203682343	45568278	38	499											
SRGAP2	23380	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	206566076	206566076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catatcacatgtacaatgccGacagcatcagtgctcagagc	8	12	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:206566076G>A	ENST00000414007.1	+	2	97	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	173	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTACAATGCCGACAGCATCAG	0.532																																					p.D20N		.											.	.	0			c.G58A						.						39	36	37					1																	206566076		2052	4199	6251	SO:0001583	missense	100996712	exon2			AATGCCGACAGCA	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.97G>A	1.37:g.206566076G>A	ENSP00000390898:p.Asp33Asn	Somatic	1069	0		WXS	Illumina GAIIx	Phase_I	900	131	NM_001271887	0	0	9	10	1		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.357116|5.357116	0.95854|0.95854	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007|ENST00000295713	T|.	0.16457|.	2.34|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	.|.	.|.	.|.	0.31099|.	N|.	0.710612|.	D;B;P|.	0.63046|.	0.992;0.382;0.622|.	B;B;B|.	0.43155|.	0.41;0.261;0.189|.	T|T	0.74914|0.74914	-0.3502|-0.3502	8|3	0.87932|.	D|.	0|.	.|.	19.085|19.085	0.93200|0.93200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;173;173|.	B4DDU0;O75044;B7Z3G4|.	.;FNBP2_HUMAN;.|.	N|Q	87;33|86	ENSP00000390898:D33N|.	ENSP00000390898:D33N|.	D|R	+|+	1|2	0|0	SRGAP2|SRGAP2	204632699|204632699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.860000|9.860000	0.99555|0.99555	2.483000|2.483000	0.83821|0.83821	0.455000|0.455000	0.32223|0.32223	GAC|CGA	.		0.532	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		A	206566076	G	A	206566076	3	1	5	1	0	0	0	0	1	0	0	0	15193	1058	37	1	267	1	SRGAP2	1	206566076	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2883733	206566076	42684545	39	500											
RASSF5	83593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtttgcactttttaagcGgatacacaaggacggacaag	11	7	0	0	rs570039354		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:206757996G>A	ENST00000355294.4	+	4	1025	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	RASSF5_ENST00000304534.8_Missense_Mutation_p.R170Q|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537													G|||	1	0.000199681	0	0	5008	,	,		20853	0		0	False		,,,				2504	0.001				p.R323Q	GBM(162;656 1984 11916 22872 31529)	.											.	RASSF5-660	0			c.G968A						.						100	92	95					1																	206757996		2203	4300	6503	SO:0001583	missense	83593	exon4			TTAAGCGGATACA	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.968G>A	1.37:g.206757996G>A	ENSP00000347443:p.Arg323Gln	Somatic	207	0		WXS	Illumina GAIIx	Phase_I	142	124	NM_182663	0	0	0	2	2	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881865	0.51908	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.36	2.49	0.30216	Ras-association (3);	0.381500	0.29653	N	0.011550	T	0.27098	0.0664	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.21821	0.061;0.0;0.005;0.014;0.017	B;B;B;B;B	0.23419	0.037;0.001;0.001;0.046;0.009	T	0.08330	-1.0727	10	0.52906	T	0.07	-3.5408	6.0411	0.19734	0.446:0.0:0.554:0.0	.	321;170;323;323;325	E9PDW5;Q8WWW0-2;Q8WWW0-3;Q8WWW0;Q59GG4	.;.;.;RASF5_HUMAN;.	Q	323;323;323;323;170	ENSP00000347443:R323Q;ENSP00000356084:R323Q;ENSP00000342620:R323Q;ENSP00000306091:R170Q	ENSP00000306091:R170Q	R	+	2	0	RASSF5	204824619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.636000	0.37144	0.649000	0.30751	0.561000	0.74099	CGG	.		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		A	206757996	G	A	206757996	3	1	5	1	0	0	0	0	1	0	0	0	13134	1116	39	1	1106	1	RASSF5	1	206757996	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	191920	206757996	42492625	40	501											
CR2	1380	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:207642044delC	ENST00000367058.3	+	3	807	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {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)	p.T209fs*10(1)		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						GGAGTGCTGTCCCCCCCACAT	0.398																																					p.V206fs		.											.	CR2-232	1	Deletion - Frameshift(1)	breast(1)	c.618delC						.						243	225	231					1																	207642044		2203	4300	6503	SO:0001589	frameshift_variant	1380	exon3			TGCTGTCCCCCCC	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.618delC	1.37:g.207642044delC	ENSP00000356025:p.Val206fs	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	61	57	NM_001006658	0	0	0	0	0	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	CCDS1478.1																																																																																			.		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		-	207642044	C	-	207642044	7	5	5	1	0	1	0	1	0	0	0	0	3849	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	884048	207642044	41608577	41	502											
PLXNA2	5362	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	208390432	208390432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagagccgcacgatgCgtgaggtgtagaagaggtct	15	9	1	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:208390432C>T	ENST00000367033.3	-	2	1593	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	279	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGCACGATGCGTGAGGTGTA	0.617																																					p.R279H		.											.	PLXNA2-92	0			c.G836A						.						102	99	100					1																	208390432		2203	4300	6503	SO:0001583	missense	5362	exon2			ACGATGCGTGAGG	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.836G>A	1.37:g.208390432C>T	ENSP00000356000:p.Arg279His	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	92	81	NM_025179	0	0	0	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307792	0.81247	.	.	ENSG00000076356	ENST00000367033	T	0.32272	1.46	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.961	T	0.56426	-0.7981	10	0.72032	D	0.01	.	13.3465	0.60575	0.0:0.9282:0.0:0.0718	.	333;279	O75051-2;O75051	.;PLXA2_HUMAN	H	279	ENSP00000356000:R279H	ENSP00000356000:R279H	R	-	2	0	PLXNA2	206457055	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	4.729000	0.62008	2.765000	0.95021	0.655000	0.94253	CGC	.		0.617	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208390432	C	T	208390432	3	4	5	1	0	0	0	0	1	0	0	0	12159	768	27	1	4972	1	PLXNA2	1	208390432	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	748388	208390432	40860189	42	503											
CAPN2	824	broad.mit.edu;bcgsc.ca	37	chr1	223947018	223947018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaaacttcttcctgaCgaatcgcgccagggagcgct	10	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:223947018C>T	ENST00000295006.5	+	12	1673	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	CAPN2_ENST00000433674.2_Missense_Mutation_p.T377M|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	455	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTCTTCCTGACGAATCGCGCC	0.547																																					p.T455M		.											.	CAPN2-523	0			c.C1364T						.						77	76	76					1																	223947018		2203	4300	6503	SO:0001583	missense	824	exon12			TCCTGACGAATCG	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1364C>T	1.37:g.223947018C>T	ENSP00000295006:p.Thr455Met	Somatic	261	0		WXS	Illumina GAIIx	Phase_I	188	7	NM_001748	0	0	11	11	0	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518672	0.44763	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.87809	-2.3;-2.3	5.67	4.74	0.60224	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.288293	0.37437	N	0.002091	D	0.92374	0.7580	M	0.77486	2.375	0.39132	D	0.961878	D;D;D	0.71674	0.99;0.993;0.998	P;P;D	0.66497	0.841;0.903;0.944	D	0.92473	0.5987	10	0.36615	T	0.2	.	14.9241	0.70862	0.0:0.7284:0.2716:0.0	.	377;38;455	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	M	377;455;484	ENSP00000413158:T377M;ENSP00000295006:T455M	ENSP00000295006:T455M	T	+	2	0	CAPN2	222013641	0.988000	0.35896	0.870000	0.34147	0.541000	0.35023	2.346000	0.44027	1.368000	0.46115	0.655000	0.94253	ACG	.		0.547	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		T	223947018	C	T	223947018	3	4	5	1	0	0	0	0	1	0	0	0	2634	536	19	1	1417	1	CAPN2	1	223947018	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	15556586	223947018	25303603	43	504											
RYR2	6262	broad.mit.edu;bcgsc.ca	37	chr1	237791320	237791320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccttggtcagattcGgtccctgctgagtgtgagaa	13	10	1	3	rs397516547		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:237791320G>A	ENST00000366574.2	+	41	6697	c.6380G>A	c.(6379-6381)cGg>cAg	p.R2127Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R2111Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R2125Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	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)	p.R2125L(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)			GGTCAGATTCGGTCCCTGCTG	0.488																																					p.R2127Q		.											.	RYR2-158	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G6380A						.						106	114	111					1																	237791320		1999	4172	6171	SO:0001583	missense	6262	exon41			AGATTCGGTCCCT	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.6380G>A	1.37:g.237791320G>A	ENSP00000355533:p.Arg2127Gln	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	193	7	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363080	0.82353	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95307	-3.67;-3.67;-3.67	5.53	5.53	0.82687	Intracellular calcium-release channel (1);	0.178206	0.36234	N	0.002711	D	0.97318	0.9123	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97540	1.0085	10	0.87932	D	0	-11.6254	19.8167	0.96571	0.0:0.0:1.0:0.0	.	2127	Q92736	RYR2_HUMAN	Q	2127;2125;2111	ENSP00000355533:R2127Q;ENSP00000353174:R2125Q;ENSP00000443798:R2111Q	ENSP00000353174:R2125Q	R	+	2	0	RYR2	235857943	1.000000	0.71417	0.291000	0.24904	0.262000	0.26303	9.813000	0.99286	2.762000	0.94881	0.591000	0.81541	CGG	.		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237791320	G	A	237791320	3	1	5	1	0	0	0	0	1	0	0	0	13814	1116	39	1	6542	1	RYR2	1	237791320	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13844302	237791320	11459301	44	505											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	237811912	237811912	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgcttctttagataCggtgagattggagcgatgga	16	6	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr1:237811912C>T	ENST00000366574.2	+	49	7828	c.7511C>T	c.(7510-7512)aCg>aTg	p.T2504M	RYR2_ENST00000542537.1_Splice_Site_p.T2488M|RYR2_ENST00000360064.6_Splice_Site_p.T2502M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2504	4 X approximate repeats.		T -> M (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		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)			TCTTTAGATACGGTGAGATTG	0.438																																					p.T2504M		.											.	RYR2-158	0			c.C7511T	GRCh37	CM010424	RYR2	M		.						62	55	57					1																	237811912		1901	4117	6018	SO:0001630	splice_region_variant	6262	exon49			TAGATACGGTGAG	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.7512+1C>T	1.37:g.237811912C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378639	0.82682	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96554	-4.05;-4.05;-4.05	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000008	D	0.98018	0.9347	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98786	1.0734	10	0.72032	D	0.01	-14.7721	18.5983	0.91236	0.0:1.0:0.0:0.0	.	2504	Q92736	RYR2_HUMAN	M	2504;2502;2488	ENSP00000355533:T2504M;ENSP00000353174:T2502M;ENSP00000443798:T2488M	ENSP00000353174:T2502M	T	+	2	0	RYR2	235878535	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	7.583000	0.82559	2.563000	0.86464	0.655000	0.94253	ACG	.		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	T	237811912	C	T	237811912	5	4	5	1	0	0	0	0	0	0	1	0	13814	550	19	1	7705	1	RYR2	1	237811912	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	20592	237811912	11438709	45	506											
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	3196229	3196229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcactgatgtcatcgtcGtctaccaagtggccgaaggg	13	10	3	1	rs376091257		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:3196229G>A	ENST00000382125.4	-	8	1137	c.945C>T	c.(943-945)gaC>gaT	p.D315D	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Silent_p.D342D	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	315										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGTCATCGTCGTCTACCAAGT	0.572																																					p.D315D	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.C945T						.	G		0,4406		0,0,2203	167	123	138		945	-6.2	0.5	2		138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSSC1	NM_003310.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/388	3196229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7260	exon8			ATCGTCGTCTACC	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.945C>T	2.37:g.3196229G>A		Somatic	200	0		WXS	Illumina GAIIx	Phase_I	190	18	NM_003310	0	0	16	19	3	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																			.		0.572	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		A	3196229	G	A	3196229	2	1	5	1	0	0	0	0	0	0	0	1	16714	1136	40	1		1	TSSC1	2	3196229	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		3196229	240003144	46	507											
TRIM54	57159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaatgtgccaacgacGtcttccaggtgggtgccagg	14	12	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																					p.V54I		.											.	TRIM54-227	0			c.G160A						.						177	156	163					2																	27505759		2203	4300	6503	SO:0001583	missense	57159	exon1			AACGACGTCTTCC	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	133	119	NM_187841	0	0	0	0	0	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC	.		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		A	27505759	G	A	27505759	3	1	5	1	0	0	0	0	1	0	0	0	16576	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	24309530	27505759	215693614	47	508											
FOSL2	2355	ucsc.edu;bcgsc.ca	37	chr2	28627094	28627094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacctccatgtccaacCcataccctcgctcgcacccc	4	21	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:28627094C>A	ENST00000264716.4	+	2	1086	c.223C>A	c.(223-225)Cca>Aca	p.P75T	FOSL2_ENST00000379619.1_Missense_Mutation_p.P50T|FOSL2_ENST00000545753.1_Missense_Mutation_p.P36T|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	75					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATGTCCAACCCATACCCTCG	0.627																																					p.P75T		.											.	FOSL2-712	0			c.C223A						.						159	136	144					2																	28627094		2203	4300	6503	SO:0001583	missense	2355	exon2			TCCAACCCATACC		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.223C>A	2.37:g.28627094C>A	ENSP00000264716:p.Pro75Thr	Somatic	190	2		WXS	Illumina GAIIx	Phase_I	190	166	NM_005253	0	0	1	5	4	B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163968	0.57476	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.73962	2.25	0.80722	D	1	P	0.50443	0.935	B	0.42245	0.381	T	0.51028	-0.8757	10	0.39692	T	0.17	-22.7934	15.3615	0.74478	0.0:0.8602:0.1398:0.0	.	75	P15408	FOSL2_HUMAN	T	50;75;36;36	ENSP00000368939:P50T;ENSP00000264716:P75T;ENSP00000396497:P36T;ENSP00000439303:P36T	ENSP00000264716:P75T	P	+	1	0	FOSL2	28480598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.172000	0.50832	2.485000	0.83878	0.563000	0.77884	CCA	.		0.627	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		A	28627094	C	A	28627094	3	1	5	1	0	0	0	0	1	0	0	0	6010	623	22	3	229	3	FOSL2	2	28627094	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1121335	28627094	214572279	48	509											
FOXN2	3344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	48602109	48602109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaaaagaggagttacGgcaatgcatttcatcatccc	8	9	2	1	rs200645756		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:48602109G>A	ENST00000340553.3	+	7	1084	c.823G>A	c.(823-825)Ggc>Agc	p.G275S		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	275					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GAGGAGTTACGGCAATGCATT	0.393																																					p.G275S		.											.	FOXN2-226	0			c.G823A						.						75	67	69					2																	48602109		2203	4300	6503	SO:0001583	missense	3344	exon7			AGTTACGGCAATG		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.823G>A	2.37:g.48602109G>A	ENSP00000343633:p.Gly275Ser	Somatic	269	1		WXS	Illumina GAIIx	Phase_I	184	153	NM_002158	0	0	0	0	0	Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006587	0.19199	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.93426	-3.22	4.88	-3.53	0.04667	.	0.664966	0.15047	N	0.283536	T	0.82061	0.4955	N	0.22421	0.69	0.27311	N	0.957301	B	0.02656	0.0	B	0.01281	0.0	T	0.69518	-0.5124	10	0.07990	T	0.79	.	6.4391	0.21839	0.4194:0.0:0.4707:0.11	.	275	P32314	FOXN2_HUMAN	S	184;275	ENSP00000343633:G275S	ENSP00000305685:G184S	G	+	1	0	FOXN2	48455613	0.023000	0.18921	0.122000	0.21767	0.836000	0.47400	0.070000	0.14573	-0.844000	0.04184	-0.122000	0.15005	GGC	G|0.999;A|0.001		0.393	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		A	48602109	G	A	48602109	3	1	5	1	0	0	0	0	1	0	0	0	6044	1116	39	1	841	1	FOXN2	2	48602109	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	19975015	48602109	194597264	49	510											
FSHR	2492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	49244660	49244660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaaggttctggaaggcCtcagggttgatgtagagcag	17	5	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:49244660C>A	ENST00000406846.2	-	4	461	c.342G>T	c.(340-342)gaG>gaT	p.E114D	FSHR_ENST00000346173.3_Missense_Mutation_p.E114D|FSHR_ENST00000304421.4_Missense_Mutation_p.E114D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	114					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTGGAAGGCCTCAGGGTTGA	0.393									Gonadal Dysgenesis, 46 XX																												p.E114D		.											.	FSHR-527	0			c.G342T						.						149	139	143					2																	49244660		2203	4300	6503	SO:0001583	missense	2492	exon4	Familial Cancer Database		GAAGGCCTCAGGG		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.342G>T	2.37:g.49244660C>A	ENSP00000384708:p.Glu114Asp	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	99	87	NM_181446	0	0	0	0	0	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000674	0.07819	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.17	1.19	0.21007	.	0.315473	0.32802	N	0.005640	T	0.16896	0.0406	N	0.01242	-0.935	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.03493	-1.1031	9	.	.	.	.	3.8098	0.08792	0.2004:0.504:0.0:0.2956	.	114;114;114	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	D	114	ENSP00000384708:E114D;ENSP00000333908:E114D;ENSP00000306780:E114D;ENSP00000415504:E114D	.	E	-	3	2	FSHR	49098164	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	0.101000	0.15251	0.017000	0.15025	0.655000	0.94253	GAG	.		0.393	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			A	49244660	C	A	49244660	3	1	5	1	0	0	0	0	1	0	0	0	6097	680	24	3	1773	3	FSHR	2	49244660	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	642551	49244660	193954713	50	511											
NRXN1	9378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	50149257	50149257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtacttgtacatggcaTagaggaggataaggatgcac	12	6	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:50149257T>A	ENST00000406316.2	-	22	5735	c.4259A>T	c.(4258-4260)tAt>tTt	p.Y1420F	NRXN1_ENST00000401710.1_Missense_Mutation_p.Y438F|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y1442F|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y1442F|NRXN1_ENST00000404971.1_Missense_Mutation_p.Y1490F|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y1420F|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y385F|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y1450F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1420					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)			GTACATGGCATAGAGGAGGAT	0.532																																					p.Y1490F		.											.	NRXN1-92	0			c.A4469T						.						179	143	155					2																	50149257		2203	4300	6503	SO:0001583	missense	9378	exon24			ATGGCATAGAGGA	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.4259A>T	2.37:g.50149257T>A	ENSP00000384311:p.Tyr1420Phe	Somatic	208	2		WXS	Illumina GAIIx	Phase_I	163	143	NM_001135659	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.072615|4.072615	0.76415|0.76415	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.71817	.|0.9;2.09;0.11;0.06;-0.6;-0.49;-0.2;-0.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.48286	.|U	.|0.000197	D|D	0.83649|0.83649	0.5300|0.5300	M|M	0.76574|0.76574	2.34|2.34	0.46609|0.46609	D|D	0.999122|0.999122	.|P;D;D;D;D;P	.|0.71674	.|0.927;0.982;0.996;0.998;0.998;0.811	.|D;P;D;D;D;P	.|0.87578	.|0.953;0.889;0.998;0.987;0.989;0.762	D|D	0.85468|0.85468	0.1171|0.1171	5|10	.|0.66056	.|D	.|0.02	.|.	15.6649|15.6649	0.77221|0.77221	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|85;1490;385;1420;1439;82	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|F	153|385;339;438;1490;1420;1442;1450;1491;1442;1420	.|ENSP00000341184:Y385F;ENSP00000385580:Y438F;ENSP00000385142:Y1490F;ENSP00000384311:Y1420F;ENSP00000434015:Y1442F;ENSP00000385017:Y1450F;ENSP00000385434:Y1442F;ENSP00000385681:Y1420F	.|ENSP00000341184:Y385F	M|Y	-|-	1|2	0|0	NRXN1|NRXN1	50002761|50002761	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	7.868000|7.868000	0.87116|0.87116	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	ATG|TAT	.		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50149257	T	A	50149257	3	1	5	1	0	0	0	0	1	0	0	0	10704	1406	49	5	178	5	NRXN1	2	50149257	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	904597	50149257	193050116	51	512											
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	61571010	61571010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttgttggaggtgagAtgtcagttccgcatgtgaat	14	4	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:61571010A>G	ENST00000398571.2	-	16	2516	c.2440T>C	c.(2440-2442)Tct>Cct	p.S814P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	814					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)			TGGAGGTGAGATGTCAGTTCC	0.368																																					p.S814P		.											.	USP34-579	0			c.T2440C						.						156	146	149					2																	61571010		1930	4134	6064	SO:0001583	missense	9736	exon16			GGTGAGATGTCAG	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.2440T>C	2.37:g.61571010A>G	ENSP00000381577:p.Ser814Pro	Somatic	278	0		WXS	Illumina GAIIx	Phase_I	232	201	NM_014709	0	0	0	0	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757808	0.89843	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03745	3.82	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.36672	1.1	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.14200	-1.0481	10	0.38643	T	0.18	.	15.9112	0.79475	1.0:0.0:0.0:0.0	.	814	Q70CQ2	UBP34_HUMAN	P	662;662;814	ENSP00000381577:S814P	ENSP00000263989:S662P	S	-	1	0	USP34	61424514	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.323000	0.96364	2.161000	0.67846	0.491000	0.48974	TCT	.		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61571010	A	G	61571010	3	3	5	1	0	0	0	0	1	0	0	0	17114	333	12	4	8460	4	USP34	2	61571010	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	11421753	61571010	181628363	52	513											
TET3	200424	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	74273495	74273495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcacggcagctaagcGcctcaggggtgccggtcaat	15	12	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:74273495G>A	ENST00000409262.3	+	1	46	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	16					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						GCAGCTAAGCGCCTCAGGGGT	0.622																																					p.A16T		.											.	.	0			c.G46A						.						40	42	41					2																	74273495		1935	4130	6065	SO:0001583	missense	200424	exon1			CTAAGCGCCTCAG		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.46G>A	2.37:g.74273495G>A	ENSP00000386869:p.Ala16Thr	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	90	17	NM_144993	0	0	0	0	0	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	1.134	-0.651607	0.03506	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.21932	1.98;2.79	5.41	0.869	0.19096	.	.	.	.	.	T	0.06600	0.0169	N	0.02539	-0.55	0.21290	N	0.999732	B	0.06786	0.001	B	0.01281	0.0	T	0.39881	-0.9592	9	0.18710	T	0.47	.	3.6457	0.08184	0.4216:0.0:0.4025:0.1759	.	16	O43151	TET3_HUMAN	T	58;16;16	ENSP00000307803:A58T;ENSP00000386869:A16T	ENSP00000233310:A16T	A	+	1	0	TET3	74127003	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.699000	0.37804	0.284000	0.22305	0.561000	0.74099	GCC	.		0.622	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			A	74273495	G	A	74273495	3	1	5	1	0	0	0	0	1	0	0	0	15818	1087	38	1	48	1	TET3	2	74273495	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	12702485	74273495	168925878	53	514											
WDR54	84058	broad.mit.edu	37	chr2	74649393	74649393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgtattttggcgtggttcAtggaccaagcgcccagcttc	11	12	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:74649393A>G	ENST00000348227.4	+	2	201	c.113A>G	c.(112-114)cAt>cGt	p.H38R	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	38										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGCGTGGTTCATGGACCAAGC	0.652																																					p.H38R		.											.	WDR54-90	0			c.A113G						.						58	54	55					2																	74649393		2203	4300	6503	SO:0001583	missense	84058	exon2			TGGTTCATGGACC	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.113A>G	2.37:g.74649393A>G	ENSP00000006526:p.His38Arg	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	225	7	NM_032118	0	0	9	9	0	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	A	32	5.190067	0.94923	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	L	0.53249	1.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.71870	0.975	T	0.71347	-0.4620	9	0.52906	T	0.07	-14.3375	13.079	0.59102	1.0:0.0:0.0:0.0	.	38	Q9H977	WDR54_HUMAN	R	38	.	ENSP00000006526:H38R	H	+	2	0	WDR54	74502901	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.716000	0.68437	2.083000	0.62718	0.418000	0.28097	CAT	.		0.652	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		G	74649393	A	G	74649393	3	3	5	1	0	0	0	0	1	0	0	0	17355	217	8	4	115	4	WDR54	2	74649393	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	375898	74649393	168549980	54	515											
GLI2	2736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggtggcctccagctgCgcaaacacatgaccaccatg	10	16	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000314490.11_Missense_Mutation_p.R392C|GLI2_ENST00000361492.4_Missense_Mutation_p.R720C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657																																					p.R720C		.											.	GLI2-954	0			c.C2158T						.						60	57	58					2																	121744055		2203	4300	6503	SO:0001583	missense	2736	exon12			CAGCTGCGCAAAC		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.2158C>T	2.37:g.121744055C>T	ENSP00000390436:p.Arg720Cys	Somatic	167	1		WXS	Illumina GAIIx	Phase_I	248	216	NM_005270	0	0	0	4	4		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC	.		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121744055	C	T	121744055	3	4	5	1	0	0	0	0	1	0	0	0	6464	768	27	1	2204	1	GLI2	2	121744055	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	47094662	121744055	121455318	55	516											
PROC	5624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	128185950	128185950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagagtatgacctgcggCgctgggagaagtgggagctg	19	7	0	3	rs121918154		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:128185950C>T	ENST00000234071.3	+	9	901	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PROC_ENST00000422777.3_Missense_Mutation_p.R272C|PROC_ENST00000409048.1_Missense_Mutation_p.R306C|PROC_ENST00000453608.2_Missense_Mutation_p.R327C	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	272	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in THPH3). {ECO:0000269|PubMed:1868249}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGACCTGCGGCGCTGGGAGAA	0.622																																					p.R272C		.											.	PROC-90	0			c.C814T	GRCh37	CM910317	PROC	M	rs121918154	.						60	55	56					2																	128185950		2203	4300	6503	SO:0001583	missense	5624	exon9			CTGCGGCGCTGGG	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.814C>T	2.37:g.128185950C>T	ENSP00000234071:p.Arg272Cys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	125	7	NM_000312	0	0	0	0	0	B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994090	0.54041	.	.	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.25	1.43	0.22495	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.510472	0.16786	N	0.199594	D	0.91630	0.7355	M	0.69185	2.1	0.26172	A	0.0201596	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.995;0.985;0.998	D	0.90803	0.4695	9	0.87932	D	0	.	6.0054	0.19542	0.2848:0.5433:0.0:0.1718	.	327;328;306;272	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	C	272;231;327;306;272	ENSP00000234071:R272C;ENSP00000404030:R327C;ENSP00000386679:R306C;ENSP00000409543:R272C	ENSP00000234071:R272C	R	+	1	0	PROC	127902420	0.000000	0.05858	0.973000	0.42090	0.812000	0.45895	-0.168000	0.09925	1.209000	0.43321	0.555000	0.69702	CGC	.		0.622	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		T	128185950	C	T	128185950	3	4	5	1	0	0	0	0	1	0	0	0	12587	768	27	1	844	1	PROC	2	128185950	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	6441895	128185950	115013423	56	517											
CCDC74B	91409	bcgsc.ca	37	chr2	130897620	130897620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctagcttcctccgggActgcctggggcctctggctc	13	14	1	0	rs2259332	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:130897620A>G	ENST00000310463.6	-	6	1063	c.926T>C	c.(925-927)gTc>gCc	p.V309A	CCDC74B_ENST00000409943.3_Missense_Mutation_p.V243A|CCDC74B_ENST00000392984.3_Missense_Mutation_p.V411A|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	309										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCCTCCGGGACTGCCTGGGG	0.667													.|||	1822	0.363818	0.3351	0.4107	5008	,	,		12901	0.3839		0.3032	False		,,,				2504	0.411				p.V309A		.											.	CCDC74B-90	0			c.T926C						.						33	37	35					2																	130897620		2194	4263	6457	SO:0001583	missense	91409	exon6			TCCGGGACTGCCT		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.926T>C	2.37:g.130897620A>G	ENSP00000308873:p.Val309Ala	Somatic	70	2		WXS	Illumina GAIIx	Phase_I	50	41	NM_207310	0	0	0	167	167	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	632|632	0.2893772893772894|0.2893772893772894	137|137	0.2784552845528455|0.2784552845528455	111|111	0.30662983425414364|0.30662983425414364	197|197	0.34440559440559443|0.34440559440559443	187|187	0.24670184696569922|0.24670184696569922	.|.	0.001|0.001	-3.455399|-3.455399	0.00012|0.00012	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000409488|ENST00000409943;ENST00000310463;ENST00000392984	.|T;T;T	.|0.28895	.|1.59;1.59;1.59	2.15|2.15	0.0767|0.0767	0.14404|0.14404	.|.	.|2.004350	.|0.03696	.|N	.|0.247867	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.39272|0.39272	-0.9622|-0.9622	5|9	0.25106|0.23302	T|T	0.35|0.38	.|.	3.125|3.125	0.06405|0.06405	0.31:0.2268:0.4632:0.0|0.31:0.2268:0.4632:0.0	.|.	.|411;243;309	.|E7ESC5;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	P|A	207|243;309;411	.|ENSP00000386294:V243A;ENSP00000308873:V309A;ENSP00000376710:V411A	ENSP00000386250:S207P|ENSP00000308873:V309A	S|V	-|-	1|2	0|0	CCDC74B|CCDC74B	130614090|130614090	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	0.033000|0.033000	0.13754|0.13754	-0.593000|-0.593000	0.05844|0.05844	-1.964000|-1.964000	0.00472|0.00472	TCC|GTC	A|0.879;G|0.121		0.667	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		G	130897620	A	G	130897620	3	3	5	1	0	0	0	0	1	0	0	0	2855	275	10	4	228	4	CCDC74B	2	130897620	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	2711670	130897620	112301753	57	518											
NR4A2	4929	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	157186454	157186454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactgctgtccggacaggGgcatttggtacaagcaaggt	15	8	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:157186454G>A	ENST00000339562.4	-	3	607	c.245C>T	c.(244-246)cCc>cTc	p.P82L	NR4A2_ENST00000409572.1_Missense_Mutation_p.P82L|NR4A2_ENST00000426264.1_Missense_Mutation_p.P19L|NR4A2_ENST00000539077.1_Missense_Mutation_p.P93L|NR4A2_ENST00000409108.2_Missense_Mutation_p.P82L|NR4A2_ENST00000429376.1_Missense_Mutation_p.P19L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	82	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TCCGGACAGGGGCATTTGGTA	0.532																																					p.P82L		.											.	NR4A2-189	0			c.C245T						.						162	141	148					2																	157186454		2203	4300	6503	SO:0001583	missense	4929	exon3			GACAGGGGCATTT	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.245C>T	2.37:g.157186454G>A	ENSP00000344479:p.Pro82Leu	Somatic	309	0		WXS	Illumina GAIIx	Phase_I	234	15	NM_006186	0	0	0	0	0	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526079	0.64860	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;T;D	0.92545	-2.86;-2.87;-2.86;-2.87;-3.06;-2.99;-1.3;-2.14	5.94	5.94	0.96194	.	.	.	.	.	D	0.90007	0.6880	L	0.38175	1.15	0.80722	D	1	B	0.34241	0.444	B	0.35607	0.206	D	0.89069	0.3468	9	0.87932	D	0	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	82	P43354	NR4A2_HUMAN	L	82;19;82;93;82;19;82;19	ENSP00000344479:P82L;ENSP00000389986:P19L;ENSP00000386747:P82L;ENSP00000444925:P93L;ENSP00000386993:P82L;ENSP00000410952:P19L;ENSP00000406808:P82L;ENSP00000388120:P19L	ENSP00000344479:P82L	P	-	2	0	NR4A2	156894700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.820000	0.97059	0.650000	0.86243	CCC	.		0.532	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			A	157186454	G	A	157186454	3	1	5	1	0	0	0	0	1	0	0	0	10672	1232	43	3	1575	3	NR4A2	2	157186454	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	26288834	157186454	86012919	58	519											
ERMN	57471	broad.mit.edu;bcgsc.ca	37	chr2	158182171	158182171	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgatgtgcggttgaatcCgatctggagagagagcttta	13	6	2	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:158182171C>T	ENST00000410096.1	-	0	275				ERMN_ENST00000409925.1_5'UTR|ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000397283.2_Missense_Mutation_p.R8Q|ERMN_ENST00000409216.1_5'UTR|ERMN_ENST00000420719.2_5'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein						actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CGGTTGAATCCGATCTGGAGA	0.443																																					p.R8Q		.											.	ERMN-92	0			c.G23A						.						146	133	137					2																	158182171		1895	4116	6011	SO:0001623	5_prime_UTR_variant	57471	exon2			TGAATCCGATCTG	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.-17G>A	2.37:g.158182171C>T		Somatic	119	1		WXS	Illumina GAIIx	Phase_I	83	7	NM_001009959	0	0	0	0	0	B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	9.761	1.170038	0.21621	.	.	ENSG00000136541	ENST00000397283	.	.	.	4.86	-0.445	0.12242	.	6.186990	0.00166	N	0.000000	T	0.33644	0.0870	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	8	0.87932	D	0	0.9556	5.3193	0.15872	0.134:0.4978:0.0:0.3683	.	8	Q8TAM6-2	.	Q	8	.	ENSP00000380453:R8Q	R	-	2	0	ERMN	157890417	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.684000	0.05173	-0.819000	0.04323	-1.151000	0.01829	CGG	.		0.443	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		T	158182171	C	T	158182171	1	4	5	0	1	0	0	0	0	0	0	0	5251	652	23	1		1	ERMN	2	158182171	5'UTR	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	995717	158182171	85017202	59	520											
KCNH7	90134	broad.mit.edu;bcgsc.ca	37	chr2	163302907	163302907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacttgttgatgcgtggtGtctgcagtttgtattcaggt	12	5	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:163302907G>A	ENST00000332142.5	-	7	1274	c.1175C>T	c.(1174-1176)aCa>aTa	p.T392I	KCNH7_ENST00000328032.4_Missense_Mutation_p.T385I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	392					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)	GATGCGTGGTGTCTGCAGTTT	0.403																																					p.T392I	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7-95	0			c.C1175T						.						88	84	86					2																	163302907		2203	4299	6502	SO:0001583	missense	90134	exon7			CGTGGTGTCTGCA	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.1175C>T	2.37:g.163302907G>A	ENSP00000331727:p.Thr392Ile	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	129	6	NM_033272	0	0	0	0	0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386057	0.61956	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.94457	-3.43;-3.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.39245	1.2	0.80722	D	1	P;B	0.41947	0.766;0.01	B;B	0.43052	0.406;0.022	D	0.93288	0.6666	10	0.56958	D	0.05	.	19.4994	0.95086	0.0:0.0:1.0:0.0	.	385;392	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	392;385	ENSP00000331727:T392I;ENSP00000333781:T385I	ENSP00000333781:T385I	T	-	2	0	KCNH7	163011153	1.000000	0.71417	0.975000	0.42487	0.959000	0.62525	6.790000	0.75115	2.616000	0.88540	0.650000	0.86243	ACA	.		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		A	163302907	G	A	163302907	3	1	5	1	0	0	0	0	1	0	0	0	8064	1377	48	3	2521	3	KCNH7	2	163302907	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5120736	163302907	79896466	60	521											
SCN3A	6328	broad.mit.edu;bcgsc.ca	37	chr2	165947568	165947568	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatttggaacaagcagatcaTgctgttgccaaaggtctcaa	9	8	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:165947568T>A	ENST00000360093.3	-	28	5586	c.5095A>T	c.(5095-5097)Atg>Ttg	p.M1699L	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.M1650L|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1699L|SCN3A_ENST00000540861.1_Missense_Mutation_p.M182L|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1699					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCAGATCATGCTGTTGCCA	0.433																																					p.M1699L		.											.	SCN3A-141	0			c.A5095T						.						184	181	182					2																	165947568		2203	4300	6503	SO:0001583	missense	6328	exon28			AGATCATGCTGTT	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5095A>T	2.37:g.165947568T>A	ENSP00000353206:p.Met1699Leu	Somatic	418	0		WXS	Illumina GAIIx	Phase_I	278	8	NM_006922	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	18.86	3.713979	0.68730	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.46567	1.45	0.58432	D	0.999995	P;P;D	0.54964	0.65;0.604;0.969	P;B;P	0.54140	0.743;0.433;0.623	D	0.98107	1.0418	10	0.87932	D	0	.	16.3071	0.82852	0.0:0.0:0.0:1.0	.	1650;1650;1699	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	L	1699;1699;1650;182	ENSP00000353206:M1699L;ENSP00000283254:M1699L;ENSP00000386726:M1650L;ENSP00000439920:M182L	ENSP00000283254:M1699L	M	-	1	0	SCN3A	165655814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.250000	0.74265	0.477000	0.44152	ATG	.		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165947568	T	A	165947568	3	1	5	1	0	0	0	0	1	0	0	0	13963	1464	51	5	911	5	SCN3A	2	165947568	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	2644661	165947568	77251805	61	522											
SCN7A	6332	broad.mit.edu	37	chr2	167298121	167298121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcataattcttaccaaacaGcttcatgccgaatgcagcag	6	11	3	0	rs181976611	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:167298121G>A	ENST00000409855.1	-	14	2068	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	648					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)	TTACCAAACAGCTTCATGCCG	0.433													G|||	3	0.000599042	0.0023	0	5008	,	,		19350	0		0	False		,,,				2504	0				p.L648L		.											.	SCN7A-67	0			c.C1942T						.	G		33,4373	36.8+/-68.6	0,33,2170	109	116	114		1942	-1.9	0.7	2		114	0,8600		0,0,4300	no	coding-synonymous	SCN7A	NM_002976.3		0,33,6470	AA,AG,GG		0.0,0.749,0.2537		648/1683	167298121	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	6332	exon14			CAAACAGCTTCAT	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.1942C>T	2.37:g.167298121G>A		Somatic	288	0		WXS	Illumina GAIIx	Phase_I	234	4	NM_002976	0	0	0	0	0		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																			G|0.999;A|0.001		0.433	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167298121	G	A	167298121	2	1	5	1	0	0	0	0	0	0	0	1	13968	962	34	3		3	SCN7A	2	167298121	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1350553	167298121	75901252	62	523											
COL5A2	1290	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	189898939	189898939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccacatttccattccGcttctgaaattaaatgatgc	5	12	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:189898939G>A	ENST00000374866.3	-	54	4631	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1453	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1453W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTCCATTCCGCTTCTGAAAT	0.403																																					p.R1453W		.											.	COL5A2-92	1	Substitution - Missense(1)	breast(1)	c.C4357T						.						82	73	76					2																	189898939		2203	4300	6503	SO:0001583	missense	1290	exon54			CATTCCGCTTCTG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4357C>T	2.37:g.189898939G>A	ENSP00000364000:p.Arg1453Trp	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	77	12	NM_000393	0	0	0	0	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861064	0.32884	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74737	-0.87	4.8	3.91	0.45181	Fibrillar collagen, C-terminal (4);	0.000000	0.43579	D	0.000547	D	0.84479	0.5481	M	0.77712	2.385	0.46336	D	0.998998	D;D	0.76494	0.997;0.999	P;D	0.64321	0.875;0.924	D	0.86989	0.2109	10	0.72032	D	0.01	.	14.7825	0.69776	0.0:0.0:0.8545:0.1455	.	1093;1453	Q5PR22;P05997	.;CO5A2_HUMAN	W	1453;1093	ENSP00000364000:R1453W	ENSP00000364000:R1453W	R	-	1	2	COL5A2	189607184	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.249000	0.78278	1.354000	0.45846	-0.188000	0.12872	CGG	.		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		A	189898939	G	A	189898939	3	1	5	1	0	0	0	0	1	0	0	0	3704	1086	38	1	146	1	COL5A2	2	189898939	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	22600818	189898939	53300434	63	524											
SDPR	8436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	192700699	192700699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgcacggggtccccatCggagcgctccgcctcctcgg	15	17	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:192700699C>T	ENST00000304141.4	-	2	1557	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GGGTCCCCATCGGAGCGCTCC	0.637																																					p.D410N		.											.	SDPR-92	0			c.G1228A						.						49	50	50					2																	192700699		2203	4300	6503	SO:0001583	missense	8436	exon2			CCCCATCGGAGCG	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1228G>A	2.37:g.192700699C>T	ENSP00000305675:p.Asp410Asn	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	53	46	NM_004657	0	0	2	2	0		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741892	0.49151	.	.	ENSG00000168497	ENST00000304141	T	0.66815	-0.23	4.79	2.97	0.34412	.	1.359500	0.04585	N	0.395729	T	0.63721	0.2535	L	0.50333	1.59	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.52305	-0.8593	10	0.66056	D	0.02	-0.5275	9.3715	0.38256	0.0:0.8554:0.0:0.1446	.	410	O95810	SDPR_HUMAN	N	410	ENSP00000305675:D410N	ENSP00000305675:D410N	D	-	1	0	SDPR	192408944	0.061000	0.20836	0.000000	0.03702	0.004000	0.04260	1.242000	0.32755	0.626000	0.30322	0.563000	0.77884	GAT	.		0.637	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		T	192700699	C	T	192700699	3	4	5	1	0	0	0	0	1	0	0	0	14015	884	31	1	53	1	SDPR	2	192700699	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2801760	192700699	50498674	64	525											
SPATS2L	26010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	201342532	201342532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcccaaaaacaaaggCggtgccaaaaatcaagaggc	10	11	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:201342532C>T	ENST00000358677.5	+	13	1702	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	SPATS2L_ENST00000409988.3_Silent_p.G485G|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409385.1_Silent_p.G425G|SPATS2L_ENST00000360760.5_Silent_p.G416G|SPATS2L_ENST00000409140.3_Silent_p.G485G|SPATS2L_ENST00000409755.3_Silent_p.G515G|SPATS2L_ENST00000409151.1_Silent_p.G493G|SPATS2L_ENST00000409718.1_Silent_p.G485G|SPATS2L_ENST00000451764.2_Silent_p.G485G	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	485						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						AAAACAAAGGCGGTGCCAAAA	0.622																																					p.G485G		.											.	SPATS2L-48	0			c.C1455T						.						19	23	22					2																	201342532		1936	4126	6062	SO:0001819	synonymous_variant	26010	exon13			CAAAGGCGGTGCC	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.1455C>T	2.37:g.201342532C>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	47	21	NM_001100423	0	0	5	7	2	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	CCDS46483.1																																																																																			.		0.622	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		T	201342532	C	T	201342532	2	4	5	1	0	0	0	0	0	0	0	1	15067	755	27	1		1	SPATS2L	2	201342532	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8641833	201342532	41856841	65	526											
MDH1B	130752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207615686	207615686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaagtttaaaacagggcGtgaataatgaagaggtcccc	10	7	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:207615686G>A	ENST00000374412.3	-	6	1299	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	MDH1B_ENST00000454776.2_Missense_Mutation_p.R342C|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.R244C	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	342					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAAACAGGGCGTGAATAATGA	0.328																																					p.R342C	Pancreas(76;29 1355 28675 37177 51207)	.											.	MDH1B-94	0			c.C1024T						.						97	98	98					2																	207615686		2203	4300	6503	SO:0001583	missense	130752	exon6			CAGGGCGTGAATA		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1024C>T	2.37:g.207615686G>A	ENSP00000363533:p.Arg342Cys	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	28	16	NM_001039845	0	0	0	0	0	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683474	0.29872	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.67865	-0.29;-0.29;-0.29	5.97	5.97	0.96955	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.313586	0.37136	N	0.002240	T	0.64583	0.2611	M	0.64404	1.975	0.80722	D	1	P;P	0.39737	0.685;0.598	B;B	0.31547	0.063;0.132	T	0.67511	-0.5652	10	0.49607	T	0.09	-8.2429	20.4387	0.99107	0.0:0.0:1.0:0.0	.	342;342	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	C	342;244;342	ENSP00000363533:R342C;ENSP00000416577:R244C;ENSP00000389916:R342C	ENSP00000363533:R342C	R	-	1	0	MDH1B	207323931	1.000000	0.71417	0.057000	0.19452	0.037000	0.13140	8.884000	0.92432	2.836000	0.97738	0.655000	0.94253	CGC	.		0.328	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		A	207615686	G	A	207615686	3	1	5	1	0	0	0	0	1	0	0	0	9447	1145	40	1	560	1	MDH1B	2	207615686	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6273154	207615686	35583687	66	527											
SMARCAL1	50485	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	217300105	217300105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcccagattgcatcaaCgtcgtggtgactgggaagga	14	9	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:217300105C>T	ENST00000357276.4	+	9	1860	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	SMARCAL1_ENST00000358207.5_Silent_p.N510N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	510	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ATTGCATCAACGTCGTGGTGA	0.517									Schimke Immuno-Osseous Dysplasia																												p.N510N		.											.	SMARCAL1-293	0			c.C1530T						.						134	111	119					2																	217300105		2203	4300	6503	SO:0001819	synonymous_variant	50485	exon9	Familial Cancer Database	SIOD	CATCAACGTCGTG	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.1530C>T	2.37:g.217300105C>T		Somatic	194	2		WXS	Illumina GAIIx	Phase_I	190	167	NM_014140	0	0	0	3	3	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	2.371	-0.344293	0.05208	.	.	ENSG00000138375	ENST00000445153	.	.	.	5.84	-3.79	0.04320	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64939	-0.6289	4	.	.	.	-28.7227	15.4156	0.74966	0.0:0.2555:0.0:0.7445	.	.	.	.	M	68	.	.	T	+	2	0	SMARCAL1	217008350	0.541000	0.26417	0.938000	0.37757	0.183000	0.23260	-0.182000	0.09726	-0.792000	0.04480	-0.291000	0.09656	ACG	.		0.517	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			T	217300105	C	T	217300105	2	4	5	1	0	0	0	0	0	0	0	1	14818	535	19	1		1	SMARCAL1	2	217300105	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	9684419	217300105	25899268	67	528											
PLCD4	84812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219498432	219498432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcactaccacttctaCgagatatcatctttctctga	6	11	4	2	rs374723132	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:219498432C>T	ENST00000450993.2	+	11	1893	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	PLCD4_ENST00000417849.1_Silent_p.Y518Y|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.Y550Y	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	518	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCACTTCTACGAGATATCAT	0.507													C|||	2	0.000399361	0	0	5008	,	,		21639	0		0.001	False		,,,				2504	0.001				p.Y518Y		.											.	PLCD4-661	0			c.C1554T						.	C		0,3840		0,0,1920	102	94	97		1554	-2.7	1	2		97	1,8281		0,1,4140	no	coding-synonymous	PLCD4	NM_032726.3		0,1,6060	TT,TC,CC		0.0121,0.0,0.0082		518/763	219498432	1,12121	1920	4141	6061	SO:0001819	synonymous_variant	84812	exon11			CTTCTACGAGATA	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1554C>T	2.37:g.219498432C>T		Somatic	89	1		WXS	Illumina GAIIx	Phase_I	67	58	NM_032726	0	0	0	3	3	Q53FS8	Silent	SNP	ENST00000450993.2	37	CCDS46516.1																																																																																			.		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			T	219498432	C	T	219498432	2	4	5	1	0	0	0	0	0	0	0	1	12072	547	19	1		1	PLCD4	2	219498432	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2198327	219498432	23700941	68	529											
SLC4A3	6508	bcgsc.ca	37	chr2	220505265	220505265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatccagctgtcccagcgtTtgttgctcatcctcatgccg	9	14	2	0	rs684428	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:220505265T>C	ENST00000358055.3	+	21	3903	c.3391T>C	c.(3391-3393)Ttg>Ctg	p.L1131L	SLC4A3_ENST00000373760.2_Silent_p.L1131L|SLC4A3_ENST00000317151.3_Silent_p.L1131L|SLC4A3_ENST00000373762.3_Silent_p.L1158L|SLC4A3_ENST00000273063.6_Silent_p.L1158L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1131	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCCAGCGTTTGTTGCTCAT	0.597													T|||	3460	0.690895	0.4251	0.8084	5008	,	,		16997	0.8105		0.8191	False		,,,				2504	0.7117				p.L1158L		.											.	SLC4A3-157	0			c.T3472C						.	T	,	2110,2296	576.2+/-384.2	503,1104,596	174	146	155		3391,3472	2.5	1	2	dbSNP_83	155	7202,1398	753.7+/-407.5	3030,1142,128	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	3533,2246,724	CC,CT,TT		16.2558,47.8892,28.4023	,	1131/1233,1158/1260	220505265	9312,3694	2203	4300	6503	SO:0001819	synonymous_variant	6508	exon21			CAGCGTTTGTTGC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3391T>C	2.37:g.220505265T>C		Somatic	171	1		WXS	Illumina GAIIx	Phase_I	153	6	NM_201574	0	0	242	242	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																			T|0.289;C|0.711		0.597	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		C	220505265	T	C	220505265	2	2	5	1	0	0	0	0	0	0	0	1	14700	1838	64	4		4	SLC4A3	2	220505265	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1006833	220505265	22694108	69	530											
SCG2	7857	ucsc.edu	37	chr2	224462285	224462285	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcatcattcttcgggggCcccacagggaaccttttgct	10	12	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:224462285C>G	ENST00000305409.2	-	2	1948	c.1716G>C	c.(1714-1716)ggG>ggC	p.G572G		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCTTCGGGGGCCCCACAGGGA	0.483																																					p.G572G		.											.	SCG2-69	0			c.G1716C						.						83	84	84					2																	224462285		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			CGGGGGCCCCACA	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1716G>C	2.37:g.224462285C>G		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	15	1	NM_003469	0	0	16	20	4	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																			.		0.483	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		G	224462285	C	G	224462285	2	3	5	1	0	0	0	0	0	0	0	1	13936	726	26	3		3	SCG2	2	224462285	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3957020	224462285	18737088	70	531											
AGFG1	3267	hgsc.bcm.edu;bcgsc.ca	37	chr2	228384741	228384744	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													ttcagggatccacaaaaagtGaaagagtttctacaagaaaa							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAAA	GAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:228384741_228384744delGAAA	ENST00000310078.8	+	3	599_602	c.339_342delGAAA	c.(337-342)gtgaaafs	p.VK113fs	AGFG1_ENST00000409979.2_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000409171.1_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409315.1_Frame_Shift_Del_p.VK113fs|AGFG1_ENST00000373671.3_Frame_Shift_Del_p.VK113fs	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	113	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						CACAAAAAGTGAAAGAGTTTCTAC	0.333																																					p.113_114del		.											.	AGFG1-228	0			c.339_342del						.																																			SO:0001589	frameshift_variant	3267	exon3			AAAAGTGAAAGAG		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.339_342delGAAA	2.37:g.228384741_228384744delGAAA	ENSP00000312059:p.Val113fs	Somatic	180	2		WXS	Illumina GAIIx	Phase_I	102	91	NM_004504	0	0	0	0	0	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Frame_Shift_Del	DEL	ENST00000310078.8	37	CCDS2467.1																																																																																			.		0.333	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		-	228384744	GAAA	-	228384741	7	5	5	1	0	1	0	1	0	0	0	0	380	1277	45	0	349	0	AGFG1	2	228384741	Frame_Shift_Del	DEL	GAAA	TCGA-OR-A5J5-01A-11D-A29I-10	3922456	228384741	14814632	71	532											
KLHL30	377007	broad.mit.edu	37	chr2	239059485	239059485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacagcctgcatgagaatGgcgcgctggtgccactgggt	15	11	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:239059485G>A	ENST00000409223.1	+	8	1623	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G488S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCATGAGAATGGCGCGCTGGT	0.662																																					p.G506S		.											.	KLHL30-22	0			c.G1516A						.																																			SO:0001583	missense	377007	exon8			GAGAATGGCGCGC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1516G>A	2.37:g.239059485G>A	ENSP00000386389:p.Gly506Ser	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	211	5	NM_198582	0	0	0	0	0	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319342	0.81469	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.65364	-0.15;-0.15	4.79	4.79	0.61399	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70978	-0.4725	10	0.17832	T	0.49	.	16.7607	0.85511	0.0:0.0:1.0:0.0	.	506	Q0D2K2	KLH30_HUMAN	S	506;488	ENSP00000386389:G506S;ENSP00000302386:G488S	ENSP00000302386:G488S	G	+	1	0	KLHL30	238724224	1.000000	0.71417	0.941000	0.38009	0.140000	0.21249	9.106000	0.94253	2.492000	0.84095	0.655000	0.94253	GGC	.		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		A	239059485	G	A	239059485	3	1	5	1	0	0	0	0	1	0	0	0	8411	1348	47	3	1542	3	KLHL30	2	239059485	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10674744	239059485	4139888	72	533											
ANO7	50636	bcgsc.ca	37	chr2	242157228	242157228	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcgagtaccggcgcccGgtggccgagcgcgcccagga	17	15	1	0	rs78605785	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:242157228G>C	ENST00000274979.8	+	20	2365	c.2262G>C	c.(2260-2262)ccG>ccC	p.P754P	ANO7_ENST00000402430.3_Silent_p.P753P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	754					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCGGCGCCCGGTGGCCGAGC	0.706													g|||	435	0.086861	0.0061	0.2637	5008	,	,		8027	0.1458		0.004	False		,,,				2504	0.0951				p.P754P		.											.	ANO7-92	0			c.G2262C						.						16	18	18					2																	242157228		2189	4288	6477	SO:0001819	synonymous_variant	50636	exon20			GCGCCCGGTGGCC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2262G>C	2.37:g.242157228G>C		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	115	115	NM_001001891	0	0	0	0	0	Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1	170	0.07783882783882784	10	0.02032520325203252	75	0.20718232044198895	80	0.13986013986013987	5	0.006596306068601583	g	12.05	1.822737	0.32237	.	.	ENSG00000146205	ENST00000451047	.	.	.	2.69	-5.26	0.02772	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.28038	-1.0056	3	.	.	.	.	5.1019	0.14764	0.1079:0.4916:0.289:0.1115	.	.	.	.	R	67	.	.	G	+	1	0	ANO7	241805901	0.000000	0.05858	0.983000	0.44433	0.985000	0.73830	-4.591000	0.00211	-0.621000	0.05633	0.298000	0.19748	GGT	C|0.028;G|0.842;T|0.130		0.706	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		C	242157228	G	C	242157228	2	2	5	1	0	0	0	0	0	0	0	1	702	1103	39	2		2	ANO7	2	242157228	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3097743	242157228	1042145	73	534											
C2orf85	285093	hgsc.bcm.edu	37	chr2	242814035	242814035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggtgaggcccccgggcGagcagcccttcctcagcagg	15	16	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr2:242814035G>A	ENST00000343216.3	+	2	356	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_173821.2	NP_776182.2																					GCCCCCGGGCGAGCAGCCCTT	0.726																																					p.E110K		.											.	.	0			c.G328A						.																																			SO:0001583	missense	285093	exon2			CCGGGCGAGCAGC																												ENST00000343216.3:c.328G>A	2.37:g.242814035G>A	ENSP00000345374:p.Glu110Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_173821	0	0	0	0	0		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.525	0.657418	0.14645	.	.	ENSG00000188011	ENST00000343216	T	0.22945	1.93	2.67	0.813	0.18749	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	B	0.42087	0.375	T	0.13415	-1.0510	9	0.59425	D	0.04	-13.5474	4.7553	0.13080	0.3144:0.0:0.6856:0.0	.	110	Q14D33	CB085_HUMAN	K	110	ENSP00000345374:E110K	ENSP00000345374:E110K	E	+	1	0	C2orf85	242462708	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.060000	0.11712	0.209000	0.20645	0.450000	0.29827	GAG	.		0.726	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			A	242814035	G	A	242814035	3	1	5	1	0	0	0	0	1	0	0	0	2207	1059	37	1	334	1	C2orf85	2	242814035	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	656807	242814035	385338	74	535											
GRIP2	80852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	14552686	14552686	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccataccagagttgtcctcGtccttccggatcttcagctt	8	14	2	1	rs367789595		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:14552686G>A	ENST00000273083.3	-	0	1984							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGTCCTCGTCCTTCCGGA	0.602																																					.		.											.	GRIP2-69	0			.						.	G		0,4116		0,0,2058	72	77	75		2210	-4.4	1	3		75	1,8415		0,1,4207	no	coding-synonymous	GRIP2	NM_001080423.2		0,1,6265	AA,AG,GG		0.0119,0.0,0.0080		737/1141	14552686	1,12531	2058	4208	6266			80852	.			GTCCTCGTCCTTC	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552686G>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	89	76	.	0	0	0	0	0	Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																				.		0.602	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		A	14552686	G	A	14552686	1	1	5	0	1	0	0	0	0	0	0	0	6815	1136	40	1		1	GRIP2	3	14552686	RNA	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		14552686	183469744	75	536											
NR2C2	7182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	15071882	15071882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggagcatccacGtcatcagcagagaccagtcg	15	10	2	1	rs561716347		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:15071882G>A	ENST00000425241.1	+	9	1395	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	NR2C2_ENST00000393102.3_Missense_Mutation_p.V345I|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.V345I|NR2C2_ENST00000323373.6_Missense_Mutation_p.V364I			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	345					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						GAGCATCCACGTCATCAGCAG	0.498													G|||	1	0.000199681	0	0	5008	,	,		20353	0.001		0	False		,,,				2504	0				p.V364I		.											.	NR2C2-226	0			c.G1090A						.						231	182	198					3																	15071882		2203	4300	6503	SO:0001583	missense	7182	exon10			ATCCACGTCATCA	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.1033G>A	3.37:g.15071882G>A	ENSP00000388387:p.Val345Ile	Somatic	207	0		WXS	Illumina GAIIx	Phase_I	183	164	NM_003298	0	0	2	5	3	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	G	10.65	1.410412	0.25465	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93763	-3.28;-3.27;-3.28;-3.28	5.79	5.79	0.91817	Nuclear hormone receptor, ligand-binding (1);	0.117593	0.64402	D	0.000020	D	0.86904	0.6045	N	0.19112	0.55	0.40723	D	0.98267	B;B	0.15141	0.012;0.005	B;B	0.12837	0.008;0.003	T	0.81822	-0.0756	10	0.21014	T	0.42	.	13.2502	0.60048	0.072:0.0:0.9279:0.0	.	345;364	P49116;F2YGU2	NR2C2_HUMAN;.	I	345;364;345;345	ENSP00000388387:V345I;ENSP00000320447:V364I;ENSP00000376814:V345I;ENSP00000384463:V345I	ENSP00000320447:V364I	V	+	1	0	NR2C2	15046886	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	3.646000	0.54396	2.746000	0.94184	0.655000	0.94253	GTC	.		0.498	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		A	15071882	G	A	15071882	3	1	5	1	0	0	0	0	1	0	0	0	10662	1145	40	1	1124	1	NR2C2	3	15071882	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	519196	15071882	182950548	76	537											
CTDSPL	10217	bcgsc.ca	37	chr3	38017252	38017252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgtgttccgggcccGgctcttcagagaatcatgtg	15	10	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:38017252G>A	ENST00000273179.5	+	7	598	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Missense_Mutation_p.R180Q	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	191	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTCCGGGCCCGGCTCTTCAGA	0.537																																					p.R191Q		.											.	CTDSPL-90	0			c.G572A						.						101	108	106					3																	38017252		2203	4300	6503	SO:0001583	missense	10217	exon7			GGGCCCGGCTCTT	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.572G>A	3.37:g.38017252G>A	ENSP00000273179:p.Arg191Gln	Somatic	75	3		WXS	Illumina GAIIx	Phase_I	49	27	NM_001008392	0	0	0	2	2	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	37	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759764	0.96898	.	.	ENSG00000144677	ENST00000443503;ENST00000273179;ENST00000447745	T;T;T	0.20881	2.04;2.04;2.04	4.79	4.79	0.61399	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.77835	-0.2440	10	0.87932	D	0	-26.3194	18.2041	0.89848	0.0:0.0:1.0:0.0	.	180;191	O15194-2;O15194	.;CTDSL_HUMAN	Q	180;191;80	ENSP00000398288:R180Q;ENSP00000273179:R191Q;ENSP00000407443:R80Q	ENSP00000273179:R191Q	R	+	2	0	CTDSPL	37992256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.575000	0.98187	2.386000	0.81285	0.561000	0.74099	CGG	.		0.537	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		A	38017252	G	A	38017252	3	1	5	1	0	0	0	0	1	0	0	0	4014	1116	39	1	598	1	CTDSPL	3	38017252	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	22945370	38017252	160005178	77	538											
TTC21A	199223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39180220	39180220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcctcagggagcaccccGactaccccaagatcagggag	12	14	2	1	rs369092746		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:39180220G>A	ENST00000431162.2	+	29	4038	c.3904G>A	c.(3904-3906)Gac>Aac	p.D1302N	TTC21A_ENST00000440121.1_Missense_Mutation_p.D1254N|TTC21A_ENST00000301819.6_Missense_Mutation_p.D1303N|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1302										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)		GGAGCACCCCGACTACCCCAA	0.587																																					p.D1302N		.											.	TTC21A-91	0			c.G3904A						.	G	ASN/ASP,ASN/ASP	0,3864		0,0,1932	88	86	87		3760,3904	2.7	1	3		87	1,8223		0,1,4111	no	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	23,23	0,1,6043	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	1254/1273,1302/1321	39180220	1,12087	1932	4112	6044	SO:0001583	missense	199223	exon29			CACCCCGACTACC	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.3904G>A	3.37:g.39180220G>A	ENSP00000398211:p.Asp1302Asn	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	106	93	NM_145755	0	0	0	7	7	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	1.876	-0.459079	0.04508	0.0	1.22E-4	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.76186	-1.0;-1.0;-1.0	5.28	2.73	0.32206	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.296117	0.31082	N	0.008287	T	0.41003	0.1140	N	0.02973	-0.45	0.19300	N	0.99997	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.0	T	0.29701	-1.0003	10	0.06891	T	0.86	-8.728	5.2596	0.15565	0.6834:0.152:0.1646:0.0	.	1254;1303;1302	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	N	1303;1285;1302;1254	ENSP00000301819:D1303N;ENSP00000398211:D1302N;ENSP00000410882:D1254N	ENSP00000301819:D1303N	D	+	1	0	TTC21A	39155224	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	1.528000	0.35985	0.831000	0.34780	-0.415000	0.06103	GAC	.		0.587	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39180220	G	A	39180220	3	1	5	1	0	0	0	0	1	0	0	0	16736	1058	37	1	4021	1	TTC21A	3	39180220	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1162968	39180220	158842210	78	539											
NKTR	4820	bcgsc.ca	37	chr3	42660604	42660604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactttatgattcagggtGgggacttcagtgaaggtaga	13	4	2	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:42660604G>T	ENST00000232978.8	+	4	414	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.G76W|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTCAGGGTGGGGACTTCAG	0.348																																					p.G76W		.											.	NKTR-93	0			c.G226T						.						133	144	140					3																	42660604		2203	4300	6503	SO:0001583	missense	4820	exon4			CAGGGTGGGGACT		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.226G>T	3.37:g.42660604G>T	ENSP00000232978:p.Gly76Trp	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_005385	0	0	0	0	0		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390868	0.82902	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.68025	-0.3;-0.3;-0.3	4.94	4.94	0.65067	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95302	0.8404	10	0.87932	D	0	-16.2248	18.1303	0.89599	0.0:0.0:1.0:0.0	.	76;76	P30414;A8K7K2	NKTR_HUMAN;.	W	76	ENSP00000232978:G76W;ENSP00000390259:G76W;ENSP00000408660:G76W	ENSP00000232978:G76W	G	+	1	0	NKTR	42635608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.460000	0.83146	0.555000	0.69702	GGG	.		0.348	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		T	42660604	G	T	42660604	3	4	5	1	0	0	0	0	1	0	0	0	10487	1348	47	3	236	3	NKTR	3	42660604	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3480384	42660604	155361826	79	540											
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42771959	42771959	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggtgccatgtgttacCgtttctgcaggacagtgaca	12	11	1	1	rs141485184		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:42771959C>T	ENST00000310232.6	-	13	1801	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	573										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CATGTGTTACCGTTTCTGCAG	0.602																																					p.R573Q		.											.	CCDC13-91	0			c.G1718A						.						93	84	87					3																	42771959		2203	4300	6503	SO:0001630	splice_region_variant	152206	exon13			TGTTACCGTTTCT	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1718+1G>A	3.37:g.42771959C>T		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	131	115	NM_144719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214683	0.95104	.	.	ENSG00000244607	ENST00000310232	T	0.11277	2.79	5.76	5.76	0.90799	.	0.167523	0.49916	D	0.000127	T	0.36771	0.0979	M	0.79475	2.455	0.48511	D	0.999663	D	0.89917	1.0	D	0.85130	0.997	T	0.02167	-1.1202	9	.	.	.	.	18.734	0.91748	0.0:1.0:0.0:0.0	.	573	Q8IYE1	CCD13_HUMAN	Q	573	ENSP00000309836:R573Q	.	R	-	2	0	CCDC13	42746963	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.786000	0.62425	2.726000	0.93360	0.655000	0.94253	CGG	C|0.999;G|0.000		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	Missense_Mutation	T	42771959	C	T	42771959	5	4	5	1	0	0	0	0	0	0	1	0	2772	666	23	1	445	1	CCDC13	3	42771959	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	111355	42771959	155250471	80	541											
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	47036641	47036641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcggctcttcctagcGcaacgcctcaggtggctctg	13	14	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47036641G>A	ENST00000450053.3	+	13	1595	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A472A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	472					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCCTAGCGCAACGCCTCA	0.667																																					p.A472A		.											.	NBEAL2-69	0			c.G1416A						.						10	12	11					3																	47036641		2035	4146	6181	SO:0001819	synonymous_variant	23218	exon13			CCTAGCGCAACGC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1416G>A	3.37:g.47036641G>A		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	109	99	NM_015175	0	0	1	2	1	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1																																																																																			.		0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47036641	G	A	47036641	2	1	5	1	0	0	0	0	0	0	0	1	10227	1074	38	1		1	NBEAL2	3	47036641	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4264682	47036641	150985789	81	542											
KIF9	64147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	47312930	47312930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatggcatgtgtggggcGttcttcgatcatcctaaaaa	12	7	2	1	rs201201745		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47312930G>A	ENST00000265529.3	-	6	1068	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	KIF9_ENST00000352910.4_Missense_Mutation_p.R37C|KIF9_ENST00000444589.2_Missense_Mutation_p.R130C|KIF9_ENST00000335044.2_Missense_Mutation_p.R130C|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.R130C			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGTGGGGCGTTCTTCGATC	0.493													G|||	1	0.000199681	0	0	5008	,	,		18528	0.001		0	False		,,,				2504	0				p.R130C	Colon(44;962 1147 15977 24541)	.											.	KIF9-91	0			c.C388T						.						88	83	85					3																	47312930		2203	4300	6503	SO:0001583	missense	64147	exon5			TGGGGCGTTCTTC	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.388C>T	3.37:g.47312930G>A	ENSP00000265529:p.Arg130Cys	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	80	8	NM_182902	0	0	0	0	0	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.3	4.135844	0.77662	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Kinesin, motor domain (4);	0.207650	0.36134	N	0.002761	D	0.84853	0.5564	M	0.78344	2.41	0.41755	D	0.989685	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.85382	0.1120	10	0.52906	T	0.07	.	12.837	0.57780	0.0:0.0:0.8367:0.1633	.	130;130	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	C	130;130;130;130;37	ENSP00000333942:R130C;ENSP00000265529:R130C;ENSP00000414987:R130C;ENSP00000391100:R130C;ENSP00000292334:R37C	ENSP00000265529:R130C	R	-	1	0	KIF9	47287934	0.984000	0.35163	1.000000	0.80357	0.994000	0.84299	3.110000	0.50352	2.781000	0.95711	0.650000	0.86243	CGC	G|1.000;A|0.000		0.493	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			A	47312930	G	A	47312930	3	1	5	1	0	0	0	0	1	0	0	0	8337	1145	40	1	2052	1	KIF9	3	47312930	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	276289	47312930	150709500	82	543											
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47465429	47465429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactgcgttaccttgggCgatccgcagcttcacctcca	8	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:47465429C>T	ENST00000265565.5	-	9	1556	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	SCAP_ENST00000441517.2_Missense_Mutation_p.A127T|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	382	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TTACCTTGGGCGATCCGCAGC	0.567																																					p.A382T	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.G1144A						.						80	65	70					3																	47465429		2203	4300	6503	SO:0001583	missense	22937	exon9			CTTGGGCGATCCG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1144G>A	3.37:g.47465429C>T	ENSP00000265565:p.Ala382Thr	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	88	75	NM_012235	0	0	0	0	0	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	36	5.697719	0.96802	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	D;D	0.96427	-4.01;-4.01	4.85	4.85	0.62838	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99246	1.0886	10	0.87932	D	0	-28.636	18.1682	0.89736	0.0:1.0:0.0:0.0	.	127;382	F8W921;Q12770	.;SCAP_HUMAN	T	382;382;127;75	ENSP00000265565:A382T;ENSP00000416847:A127T	ENSP00000265565:A382T	A	-	1	0	SCAP	47440433	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	7.412000	0.80091	2.537000	0.85549	0.655000	0.94253	GCC	.		0.567	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		T	47465429	C	T	47465429	3	4	5	1	0	0	0	0	1	0	0	0	13922	768	27	1	2755	1	SCAP	3	47465429	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	152499	47465429	150557001	83	544											
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49694175	49694175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaagaggagctagagCgggaacgtgtggagctgcag	19	7	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:49694175C>T	ENST00000296452.4	+	5	7300	c.7186C>T	c.(7186-7188)Cgg>Tgg	p.R2396W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2396					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGCTAGAGCGGGAACGTGT	0.627																																					p.R2396W		.											.	BSN-97	0			c.C7186T						.						34	33	33					3																	49694175		2192	4291	6483	SO:0001583	missense	8927	exon5			CTAGAGCGGGAAC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7186C>T	3.37:g.49694175C>T	ENSP00000296452:p.Arg2396Trp	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	337	123	NM_003458	0	0	0	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334924	0.24253	.	.	ENSG00000164061	ENST00000296452	T	0.30448	1.53	6.17	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	N	0.19112	0.55	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.08743	-1.0707	10	0.30854	T	0.27	-18.4878	16.0498	0.80749	0.5919:0.4081:0.0:0.0	.	2396	Q9UPA5	BSN_HUMAN	W	2396	ENSP00000296452:R2396W	ENSP00000296452:R2396W	R	+	1	2	BSN	49669179	0.128000	0.22383	0.999000	0.59377	0.997000	0.91878	-0.575000	0.05861	0.392000	0.25172	0.655000	0.94253	CGG	.		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49694175	C	T	49694175	3	4	5	1	0	0	0	0	1	0	0	0	1534	759	27	1	7204	1	BSN	3	49694175	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2228746	49694175	148328255	84	545											
SEMA3G	56920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52475300	52475300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagacgcggcccacgcGgctgacagtgacatggttcg	14	14	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:52475300G>A	ENST00000231721.2	-	7	792	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGGCCCACGCGGCTGACAGTG	0.607																																					p.R265C		.											.	SEMA3G-70	0			c.C793T						.						63	49	54					3																	52475300		2203	4300	6503	SO:0001583	missense	56920	exon7			CCACGCGGCTGAC		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.793C>T	3.37:g.52475300G>A	ENSP00000231721:p.Arg265Cys	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	160	152	NM_020163	0	0	0	0	0	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366990	0.61513	.	.	ENSG00000010319	ENST00000231721	T	0.32753	1.44	4.56	2.69	0.31865	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.174626	0.52532	N	0.000074	T	0.53222	0.1783	H	0.96518	3.835	0.58432	D	0.999999	P	0.50066	0.931	P	0.49502	0.613	T	0.63120	-0.6708	10	0.87932	D	0	.	9.1929	0.37211	0.1848:0.0:0.8152:0.0	.	265	Q9NS98	SEM3G_HUMAN	C	265	ENSP00000231721:R265C	ENSP00000231721:R265C	R	-	1	0	SEMA3G	52450340	1.000000	0.71417	0.820000	0.32676	0.527000	0.34593	2.151000	0.42263	0.528000	0.28580	0.561000	0.74099	CGC	.		0.607	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		A	52475300	G	A	52475300	3	1	5	1	0	0	0	0	1	0	0	0	14075	1116	39	1	1595	1	SEMA3G	3	52475300	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2781125	52475300	145547130	85	546											
GNL3	26354	bcgsc.ca	37	chr3	52727736	52727736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaaggacatacatgaAgaattgccaaaacggaaaga	10	5	0	4	rs4532127	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:52727736A>G	ENST00000418458.1	+	13	1586	c.1413A>G	c.(1411-1413)gaA>gaG	p.E471E	GNL3_ENST00000394799.2_Silent_p.E459E|GLT8D1_ENST00000463827.1_5'Flank|SNORD19B_ENST00000459623.1_RNA|SNORD69_ENST00000391150.1_RNA|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)	471	Acidic. {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)		ACATACATGAAGAATTGCCAA	0.438													A|||	629	0.125599	0.41	0.0533	5008	,	,		21036	0		0.0099	False		,,,				2504	0.0409				p.E471E		.											.	GNL3-90	0			c.A1413G						.	A	,,	1500,2906	467.2+/-354.7	258,984,961	107	112	111		1413,1377,1377	4.9	0.7	3	dbSNP_111	111	192,8408	84.0+/-146.5	2,188,4110	no	coding-synonymous,coding-synonymous,coding-synonymous	GNL3	NM_014366.4,NM_206825.1,NM_206826.1	,,	260,1172,5071	GG,GA,AA		2.2326,34.0445,13.0094	,,	471/550,459/538,459/538	52727736	1692,11314	2203	4300	6503	SO:0001819	synonymous_variant	26354	exon13			ACATGAAGAATTG	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.1413A>G	3.37:g.52727736A>G		Somatic	313	3		WXS	Illumina GAIIx	Phase_I	253	8	NM_014366	0	0	45	45	0	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	CCDS2861.1																																																																																			A|0.878;G|0.122		0.438	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		G	52727736	A	G	52727736	2	3	5	1	0	0	0	0	0	0	0	1	6563	69	3	4		4	GNL3	3	52727736	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	252436	52727736	145294694	86	547											
MAGI1	9223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	65365023	65365023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcgccggatctccacgtCgtagggctgcaccacggtgc	13	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:65365023C>T	ENST00000497477.2	-	17	2907	c.2908G>A	c.(2908-2910)Gac>Aac	p.D970N	MAGI1_ENST00000330909.8_Missense_Mutation_p.D998N|MAGI1_ENST00000402939.2_Missense_Mutation_p.D970N|MAGI1_ENST00000483466.1_Missense_Mutation_p.D998N			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	998	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATCTCCACGTCGTAGGGCTGC	0.692																																					p.D998N		.											.	MAGI1-661	0			c.G2992A						.						39	33	35					3																	65365023		2202	4300	6502	SO:0001583	missense	9223	exon18			CCACGTCGTAGGG	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2908G>A	3.37:g.65365023C>T	ENSP00000424369:p.Asp970Asn	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	74	73	NM_015520	0	0	1	3	2	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.680794	0.88542	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.21543	2.4;2.08;2.08;2.07;2.0;2.07	5.46	4.59	0.56863	.	0.048252	0.85682	N	0.000000	T	0.35624	0.0938	L	0.37697	1.125	0.58432	D	0.999999	P;P;D;P;D	0.89917	0.683;0.922;0.998;0.864;1.0	P;P;D;P;D	0.75484	0.659;0.514;0.936;0.698;0.986	T	0.06338	-1.0832	10	0.48119	T	0.1	-26.5818	14.15	0.65378	0.0:0.9273:0.0:0.0727	.	998;970;998;970;998	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	N	970;998;894;873;998;970;756	ENSP00000385450:D970N;ENSP00000331157:D998N;ENSP00000418177:D873N;ENSP00000420323:D998N;ENSP00000424369:D970N;ENSP00000420796:D756N	ENSP00000331157:D998N	D	-	1	0	MAGI1	65340063	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	7.695000	0.84257	1.301000	0.44836	0.557000	0.71058	GAC	.		0.692	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		T	65365023	C	T	65365023	3	4	5	1	0	0	0	0	1	0	0	0	9228	884	31	1	1654	1	MAGI1	3	65365023	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	12637287	65365023	132657407	87	548											
FILIP1L	84319	hgsc.bcm.edu;bcgsc.ca	37	chr3	99567122	99567123	+	Intron	INS	-	-	TA													tgagggtgagcgtggtcagtINStatatatattacttactgta							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:99567122_99567123insTA	ENST00000421999.2	+	1	210				FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.N893fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.N1133fs|FILIP1L_ENST00000354552.3_Intron	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										GCGTGGTCAGTTATATATATTA	0.396																																					p.N1133fs		.											.	FILIP1L-45	0			c.3398_3399insTA						.																																			SO:0001627	intron_variant	11259	exon5			GGTCAGTTATATA		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.64+30235->TA	3.37:g.99567129_99567130dupTA		Somatic	260	2		WXS	Illumina GAIIx	Phase_I	165	143	NM_001042459	0	0	0	0	0	A8K5S7|B4DUM1|E9PHS3	Frame_Shift_Ins	INS	ENST00000421999.2	37	CCDS2935.1																																																																																			.		0.396	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		TA	99567123	-	TA	99567122	6	5	5	0	1	1	1	0	0	0	0	0	5917	1725	60	0		0	FILIP1L	3	99567122	Intron	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	34202099	99567122	98455308	88	549											
FAM55C	91775	broad.mit.edu;bcgsc.ca	37	chr3	101520735	101520735	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggagccctggttctgcttCaaaccaaagaagctcccttg	11	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:101520735C>A	ENST00000491511.2	+	5	1706	c.750C>A	c.(748-750)ttC>ttA	p.F250L	NXPE3_ENST00000273347.5_Missense_Mutation_p.F250L|NXPE3_ENST00000422132.1_Missense_Mutation_p.F250L|NXPE3_ENST00000477909.1_Missense_Mutation_p.F250L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	250						extracellular region (GO:0005576)											GGTTCTGCTTCAAACCAAAGA	0.488																																					p.F250L		.											.	.	0			c.C750A						.						58	61	60					3																	101520735		2202	4300	6502	SO:0001583	missense	91775	exon5			CTGCTTCAAACCA	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.750C>A	3.37:g.101520735C>A	ENSP00000417485:p.Phe250Leu	Somatic	67	2		WXS	Illumina GAIIx	Phase_I	73	30	NM_145037	0	0	0	1	1	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189316	0.38707	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.81	4.02	0.46733	.	0.099426	0.64402	D	0.000001	T	0.05640	0.0148	N	0.12182	0.205	0.33226	D	0.555309	B	0.18310	0.027	B	0.15052	0.012	T	0.22452	-1.0216	10	0.07325	T	0.83	-11.8487	12.3864	0.55335	0.0:0.8641:0.0:0.1359	.	250	Q969Y0	FA55C_HUMAN	L	250	ENSP00000273347:F250L;ENSP00000417485:F250L;ENSP00000418369:F250L;ENSP00000396421:F250L	ENSP00000273347:F250L	F	+	3	2	FAM55C	103003425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.625000	0.37029	0.800000	0.34041	0.650000	0.86243	TTC	.		0.488	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		A	101520735	C	A	101520735	3	1	5	1	0	0	0	0	1	0	0	0	5608	825	29	3	756	3	FAM55C	3	101520735	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1953613	101520735	96501695	89	550											
PLCXD2	257068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	111432936	111432936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtgaagaccattgcccGgggcttggttgggggcctca	16	10	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111432936G>A	ENST00000477665.1	+	3	1151	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R276Q|PLCXD2_ENST00000472215.1_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	276					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCATTGCCCGGGGCTTGGTT	0.502																																					p.R276Q		.											.	PLCXD2-227	0			c.G827A						.						35	36	35					3																	111432936		2203	4300	6503	SO:0001583	missense	257068	exon3			TTGCCCGGGGCTT	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.827G>A	3.37:g.111432936G>A	ENSP00000420686:p.Arg276Gln	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	33	33	NM_001185106	0	0	0	0	0	Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481897	0.63849	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.60327	0.2260	L	0.43152	1.355	0.45733	D	0.998639	D;D	0.67145	0.996;0.994	P;P	0.53954	0.644;0.738	T	0.53114	-0.8484	8	0.13108	T	0.6	-10.5327	16.9188	0.86158	0.0:0.0:1.0:0.0	.	276;276	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	Q	276	.	ENSP00000377511:R276Q	R	+	2	0	PLCXD2	112915626	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	5.787000	0.69013	2.584000	0.87258	0.563000	0.77884	CGG	.		0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		A	111432936	G	A	111432936	3	1	5	1	0	0	0	0	1	0	0	0	12081	1116	39	1	837	1	PLCXD2	3	111432936	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9912201	111432936	86589494	90	551											
TAGLN3	29114	broad.mit.edu	37	chr3	111718285	111718285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatggctaacaggggcCcgagctatggcttaagccga	14	10	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111718285C>T	ENST00000393917.2	+	2	568	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	TAGLN3_ENST00000273368.4_Missense_Mutation_p.P6S|TAGLN3_ENST00000478951.1_Missense_Mutation_p.P6S|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000455401.2_Missense_Mutation_p.P6S	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	6					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TAACAGGGGCCCGAGCTATGG	0.587																																					p.P6S		.											.	TAGLN3-90	0			c.C16T						.						49	47	48					3																	111718285		2203	4300	6503	SO:0001583	missense	29114	exon2			AGGGGCCCGAGCT	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.16C>T	3.37:g.111718285C>T	ENSP00000377494:p.Pro6Ser	Somatic	78	2		WXS	Illumina GAIIx	Phase_I	59	17	NM_001008272	0	0	0	0	0	D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764156	0.89932	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000494932	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.90145	3.09	0.80722	D	1	P	0.42483	0.781	B	0.37387	0.248	T	0.75280	-0.3373	10	0.52906	T	0.07	-21.1792	17.6071	0.88041	0.0:1.0:0.0:0.0	.	6	Q9UI15	TAGL3_HUMAN	S	6	ENSP00000419105:P6S;ENSP00000377494:P6S;ENSP00000273368:P6S;ENSP00000391160:P6S;ENSP00000420675:P6S	ENSP00000273368:P6S	P	+	1	0	TAGLN3	113200975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.235000	0.78143	2.537000	0.85549	0.655000	0.94253	CCG	.		0.587	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		T	111718285	C	T	111718285	3	4	5	1	0	0	0	0	1	0	0	0	15587	623	22	3	18	3	TAGLN3	3	111718285	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	285349	111718285	86304145	91	552											
GCET2	257144	broad.mit.edu;bcgsc.ca	37	chr3	111845872	111845873	+	Frame_Shift_Ins	INS	-	-	T													cctcttttcaaaaatgagtaINStttttttcctgtaaaagaaa							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:111845872_111845873insT	ENST00000308910.4	-	4	335_336	c.151_152insA	c.(151-153)atafs	p.I51fs	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Frame_Shift_Ins_p.I53fs	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	51					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										AAAAATGAGTATTTTTTTCCTG	0.292																																					p.I53fs		.											.	.	0			c.158_159insA						.																																			SO:0001589	frameshift_variant	257144	exon4			ATGAGTATTTTTT	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.152dupA	3.37:g.111845879_111845879dupT	ENSP00000309487:p.Ile51fs	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	24	7	NM_001190259	0	0	0	0	0	C9JD17|C9JUG6	Frame_Shift_Ins	INS	ENST00000308910.4	37	CCDS2964.1																																																																																			.		0.292	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		T	111845873	-	T	111845872	7	5	5	1	0	1	1	0	0	0	0	0	6313	449	16	0	396	0	GCET2	3	111845872	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	127587	111845872	86176558	92	553											
FBXO40	51725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	121341510	121341510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaactcaaaggccacGtcatctctgaatccagaagc	8	11	3	3	rs143415272		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:121341510G>A	ENST00000338040.4	+	3	1648	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	412					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAAGGCCACGTCATCTCTGA	0.478																																					p.V412I		.											.	FBXO40-273	0			c.G1234A						.	G	ILE/VAL	0,4406		0,0,2203	116	113	114		1234	2.8	1	3	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBXO40	NM_016298.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	412/710	121341510	1,13005	2203	4300	6503	SO:0001583	missense	51725	exon3			GGCCACGTCATCT	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1234G>A	3.37:g.121341510G>A	ENSP00000337510:p.Val412Ile	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	103	83	NM_016298	0	0	0	0	0	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	4.751	0.139663	0.09083	0.0	1.16E-4	ENSG00000163833	ENST00000338040	T	0.45276	0.9	5.73	2.77	0.32553	.	0.445716	0.24925	N	0.034511	T	0.23846	0.0577	N	0.22421	0.69	0.20975	N	0.999813	B	0.21309	0.054	B	0.12156	0.007	T	0.11108	-1.0601	10	0.20519	T	0.43	-21.1251	7.4796	0.27398	0.1586:0.1392:0.7022:0.0	.	412	Q9UH90	FBX40_HUMAN	I	412	ENSP00000337510:V412I	ENSP00000337510:V412I	V	+	1	0	FBXO40	122824200	0.372000	0.25064	0.990000	0.47175	0.989000	0.77384	0.935000	0.28924	1.447000	0.47661	-0.136000	0.14681	GTC	G|1.000;A|0.000		0.478	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		A	121341510	G	A	121341510	3	1	5	1	0	0	0	0	1	0	0	0	5771	1145	40	1	1240	1	FBXO40	3	121341510	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9495638	121341510	76680920	93	554											
TMCC1	23023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	129370538	129370538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttgcccagaaggttcCgggcagtggcattctccagc	13	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:129370538C>T	ENST00000393238.3	-	6	2088	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	TMCC1_ENST00000329333.5_Missense_Mutation_p.R404Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.R469Q|TMCC1_ENST00000432054.2_Missense_Mutation_p.R259Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	583						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						CAGAAGGTTCCGGGCAGTGGC	0.582																																					p.R583Q		.											.	TMCC1-91	0			c.G1748A						.						148	132	137					3																	129370538		2203	4300	6503	SO:0001583	missense	23023	exon6			AGGTTCCGGGCAG	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.1748G>A	3.37:g.129370538C>T	ENSP00000376930:p.Arg583Gln	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	149	134	NM_001017395	0	0	0	2	2	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654130	0.88056	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.26	5.26	0.73747	.	0.057444	0.64402	D	0.000001	T	0.70675	0.3251	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.988	T	0.71272	-0.4642	10	0.59425	D	0.04	-17.7202	19.0697	0.93127	0.0:1.0:0.0:0.0	.	404;583	B4DE04;O94876	.;TMCC1_HUMAN	Q	259;583;469;404	ENSP00000404711:R259Q;ENSP00000376930:R583Q;ENSP00000389892:R469Q;ENSP00000327349:R404Q	ENSP00000327349:R404Q	R	-	2	0	TMCC1	130853228	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	7.646000	0.83445	2.744000	0.94065	0.650000	0.86243	CGG	.		0.582	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129370538	C	T	129370538	3	4	5	1	0	0	0	0	1	0	0	0	16039	652	23	1	217	1	TMCC1	3	129370538	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8029028	129370538	68651892	94	555											
NPHP3	27031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	132407633	132407633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacttcttccactgcaCgtatacacttgctagttggt	7	12	1	0	rs150867534		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:132407633C>T	ENST00000337331.5	-	21	3072	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	996					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCACTGCACGTATACACTT	0.458													C|||	1	0.000199681	0	0	5008	,	,		19313	0.001		0	False		,,,				2504	0				p.V996M		.											.	NPHP3-91	0			c.G2986A						.						141	134	137					3																	132407633		2203	4300	6503	SO:0001583	missense	27031	exon21			ACTGCACGTATAC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2986G>A	3.37:g.132407633C>T	ENSP00000338766:p.Val996Met	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	87	10	NM_153240	0	0	4	4	0	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.53	2.264413	0.39995	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.94330	-3.4	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056453	0.64402	D	0.000001	D	0.84602	0.5508	N	0.13299	0.325	0.80722	D	1	P	0.36110	0.537	B	0.25291	0.059	D	0.84563	0.0651	10	0.33940	T	0.23	-21.4328	13.7958	0.63171	0.0:0.9267:0.0:0.0733	.	996	Q7Z494	NPHP3_HUMAN	M	276;58;996	ENSP00000338766:V996M	ENSP00000338766:V996M	V	-	1	0	NPHP3	133890323	0.994000	0.37717	0.988000	0.46212	0.931000	0.56810	3.134000	0.50538	2.632000	0.89209	0.491000	0.48974	GTG	C|0.999;T|0.000		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		T	132407633	C	T	132407633	3	4	5	1	0	0	0	0	1	0	0	0	10619	536	19	1	1034	1	NPHP3	3	132407633	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3037095	132407633	65614797	95	556											
KY	339855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	134322975	134322975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgatggagcagcgccCgtcgctggtgtggatgatag	17	8	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:134322975C>T	ENST00000423778.2	-	11	1493	c.1432G>A	c.(1432-1434)Ggg>Agg	p.G478R	KY_ENST00000508956.1_Missense_Mutation_p.G457R|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	478					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GAGCAGCGCCCGTCGCTGGTG	0.632																																					p.G478R		.											.	KY-24	0			c.G1432A						.						24	26	25					3																	134322975		2064	4192	6256	SO:0001583	missense	339855	exon11			AGCGCCCGTCGCT	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1432G>A	3.37:g.134322975C>T	ENSP00000397598:p.Gly478Arg	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	65	7	NM_178554	0	0	0	0	0	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213653	0.79352	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84046	0.0367	9	0.87932	D	0	-17.6031	19.6704	0.95910	0.0:1.0:0.0:0.0	.	457;478	Q8NBH2-3;Q8NBH2-4	.;.	R	457;478;478	.	ENSP00000309520:G478R	G	-	1	0	KY	135805665	0.997000	0.39634	0.944000	0.38274	0.978000	0.69477	5.677000	0.68142	2.659000	0.90383	0.561000	0.74099	GGG	.		0.632	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		T	134322975	C	T	134322975	3	4	5	1	0	0	0	0	1	0	0	0	8614	652	23	1	557	1	KY	3	134322975	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1915342	134322975	63699455	96	557											
IL20RB	53833	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	136701009	136701009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctctttgacagggagtacGagagcctgtacacgagccac	11	12	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:136701009G>A	ENST00000329582.4	+	3	472	c.223G>A	c.(223-225)Gag>Aag	p.E75K	IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_Missense_Mutation_p.E28K	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	75	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGGGAGTACGAGAGCCTGTA	0.537																																					p.E75K		.											.	IL20RB-91	0			c.G223A						.						61	57	59					3																	136701009		2203	4300	6503	SO:0001583	missense	53833	exon3			GAGTACGAGAGCC	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.223G>A	3.37:g.136701009G>A	ENSP00000328133:p.Glu75Lys	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	140	47	NM_144717	0	0	0	0	0	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392403	0.62066	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T	0.52526	0.66	4.82	4.82	0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.61148	0.2324	L	0.50919	1.6	0.43308	D	0.995313	D	0.89917	1.0	D	0.69307	0.963	T	0.63821	-0.6550	10	0.72032	D	0.01	-4.0E-4	13.7449	0.62870	0.0:0.0:1.0:0.0	.	75	Q6UXL0	I20RB_HUMAN	K	75;28	ENSP00000328133:E75K	ENSP00000311979:E28K	E	+	1	0	IL20RB	138183699	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	5.376000	0.66178	2.394000	0.81467	0.491000	0.48974	GAG	.		0.537	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		A	136701009	G	A	136701009	3	1	5	1	0	0	0	0	1	0	0	0	7696	1059	37	1	233	1	IL20RB	3	136701009	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2378034	136701009	61321421	97	558											
SLC9A9	285195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142987727	142987727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttacttaccccataggctTgaggactggtaagcagcctg	10	10	0	1	rs374325238		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:142987727T>C	ENST00000316549.6	-	15	1908	c.1700A>G	c.(1699-1701)cAa>cGa	p.Q567R		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	567					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						CCCATAGGCTTGAGGACTGGT	0.498																																					p.Q567R		.											.	SLC9A9-229	0			c.A1700G						.	T	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	145	140	141		1700	3.3	1	3		141	0,8600		0,0,4300	no	missense	SLC9A9	NM_173653.3	43	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	567/646	142987727	1,13005	2203	4300	6503	SO:0001583	missense	285195	exon15			TAGGCTTGAGGAC	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.1700A>G	3.37:g.142987727T>C	ENSP00000320246:p.Gln567Arg	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	172	73	NM_173653	0	0	0	0	0	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865348	0.32977	2.27E-4	0.0	ENSG00000181804	ENST00000316549	T	0.32515	1.45	5.62	3.28	0.37604	.	0.423339	0.22147	N	0.063979	T	0.20981	0.0505	L	0.38175	1.15	0.27057	N	0.963634	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	10	0.32370	T	0.25	.	6.7888	0.23687	0.0:0.2753:0.0:0.7247	.	567	Q8IVB4	SL9A9_HUMAN	R	567	ENSP00000320246:Q567R	ENSP00000320246:Q567R	Q	-	2	0	SLC9A9	144470417	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.633000	0.46519	0.964000	0.38108	0.533000	0.62120	CAA	.		0.498	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		C	142987727	T	C	142987727	3	2	5	1	0	0	0	0	1	0	0	0	14766	1812	63	4	245	4	SLC9A9	3	142987727	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	6286718	142987727	55034703	98	559											
IGSF10	285313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	151164728	151164728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccttccgccaattttcCtctgcctcccaaagcgtctg	6	19	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:151164728C>A	ENST00000282466.3	-	4	3040	c.3041G>T	c.(3040-3042)aGg>aTg	p.R1014M		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	1014					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAATTTTCCTCTGCCTCCC	0.488																																					p.R1014M		.											.	IGSF10-102	0			c.G3041T						.						72	74	73					3																	151164728		2203	4300	6503	SO:0001583	missense	285313	exon4			ATTTTCCTCTGCC	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.3041G>T	3.37:g.151164728C>A	ENSP00000282466:p.Arg1014Met	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	72	62	NM_178822	0	0	0	0	0	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806274	0.50421	.	.	ENSG00000152580	ENST00000282466	D	0.84146	-1.81	5.46	4.57	0.56435	.	0.000000	0.48767	D	0.000167	D	0.88157	0.6361	L	0.36672	1.1	0.38883	D	0.95695	D	0.89917	1.0	D	0.73380	0.98	D	0.89913	0.4053	10	0.87932	D	0	.	14.6116	0.68519	0.0:0.9283:0.0:0.0717	.	1014	Q6WRI0	IGS10_HUMAN	M	1014	ENSP00000282466:R1014M	ENSP00000282466:R1014M	R	-	2	0	IGSF10	152647418	0.994000	0.37717	0.395000	0.26283	0.018000	0.09664	1.544000	0.36158	2.564000	0.86499	0.591000	0.81541	AGG	.		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151164728	C	A	151164728	3	1	5	1	0	0	0	0	1	0	0	0	7624	681	24	3	4890	3	IGSF10	3	151164728	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8177001	151164728	46857702	99	560											
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164907802	164907802	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtcttcctgatttctcGtaggtcctttccatggaagt	8	10	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:164907802G>A	ENST00000475390.1	-	2	1260	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R273*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	273	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R273*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATTTCTCGTAGGTCCTTT	0.468										HNSCC(40;0.11)																											p.R273X		.											.	SLITRK3-100	1	Substitution - Nonsense(1)	large_intestine(1)	c.C817T						.						121	125	124					3																	164907802		2203	4300	6503	SO:0001587	stop_gained	22865	exon2			TTTCTCGTAGGTC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.817C>T	3.37:g.164907802G>A	ENSP00000420091:p.Arg273*	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	55	50	NM_014926	0	0	0	0	0	Q1RMY6	Nonsense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	38	6.837759	0.97877	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.85	3.98	0.46160	.	0.000000	0.30969	N	0.008502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.7448	14.3566	0.66742	0.0:0.0:0.5045:0.4955	.	.	.	.	X	273	.	ENSP00000241274:R273X	R	-	1	2	SLITRK3	166390496	0.994000	0.37717	0.987000	0.45799	0.941000	0.58515	1.654000	0.37334	1.453000	0.47775	0.655000	0.94253	CGA	.		0.468	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		A	164907802	G	A	164907802	4	1	5	1	0	0	0	0	0	1	0	0	14789	1153	40	1	2120	1	SLITRK3	3	164907802	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13743074	164907802	33114628	100	561											
MYNN	55892	broad.mit.edu;bcgsc.ca	37	chr3	169500336	169500336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactgacctatcatgtccGtaggcatactggagaaaagc	9	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:169500336G>A	ENST00000349841.5	+	5	1967	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	MYNN_ENST00000544106.1_Missense_Mutation_p.R435H|MYNN_ENST00000392733.1_Missense_Mutation_p.R435H|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.R435H	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	435					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)			TATCATGTCCGTAGGCATACT	0.428																																					p.R435H		.											.	MYNN-91	0			c.G1304A						.						213	182	192					3																	169500336		2203	4300	6503	SO:0001583	missense	55892	exon6			ATGTCCGTAGGCA	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.1304G>A	3.37:g.169500336G>A	ENSP00000326240:p.Arg435His	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	180	7	NM_001185118	0	0	3	3	0	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544676	0.86022	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.78	5.78	0.91487	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	0.59128	0.2171	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.569;0.999	T	0.63603	-0.6600	10	0.87932	D	0	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	435;435	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	H	435	ENSP00000349150:R435H;ENSP00000326240:R435H;ENSP00000376492:R435H;ENSP00000440637:R435H	ENSP00000326240:R435H	R	+	2	0	MYNN	170983030	1.000000	0.71417	0.988000	0.46212	0.230000	0.25150	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	CGT	.		0.428	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		A	169500336	G	A	169500336	3	1	5	1	0	0	0	0	1	0	0	0	10099	1145	40	1	1318	1	MYNN	3	169500336	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4592534	169500336	28522094	101	562											
DCUN1D1	54165	bcgsc.ca	37	chr3	182681740	182681740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgctgctctgaacttccaCgcaataatcaacacactaat	5	12	2	1	rs4859146	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:182681740C>T	ENST00000292782.4	-	3	471	c.318G>A	c.(316-318)gcG>gcA	p.A106A	DCUN1D1_ENST00000469954.1_Silent_p.A91A	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	106	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGAACTTCCACGCAATAATCA	0.423													T|||	3070	0.613019	0.7322	0.7017	5008	,	,		19773	0.2738		0.7425	False		,,,				2504	0.6053				p.A106A		.											.	DCUN1D1-91	0			c.G318A						.	T		3275,1131	403.5+/-332.8	1219,837,147	151	126	134		318	-5.4	0.9	3	dbSNP_111	134	6567,2033	354.0+/-329.3	2510,1547,243	no	coding-synonymous	DCUN1D1	NM_020640.2		3729,2384,390	TT,TC,CC		23.6395,25.6695,24.3272		106/260	182681740	9842,3164	2203	4300	6503	SO:0001819	synonymous_variant	54165	exon3			CTTCCACGCAATA	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.318G>A	3.37:g.182681740C>T		Somatic	174	1		WXS	Illumina GAIIx	Phase_I	112	6	NM_020640	0	0	5	5	0	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																			C|0.308;T|0.692		0.423	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		T	182681740	C	T	182681740	2	4	5	1	0	0	0	0	0	0	0	1	4322	523	19	1		1	DCUN1D1	3	182681740	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	13181404	182681740	15340690	102	563											
CHRD	8646	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	184100913	184100913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcaggccagggctgcGcatcagtggacacattgctg	16	11	1	0	rs201032668		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:184100913G>A	ENST00000204604.1	+	10	1421	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R22H|CHRD_ENST00000450923.1_Missense_Mutation_p.R392H|CHRD_ENST00000348986.3_Missense_Mutation_p.R392H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	392	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R392H(1)|p.R105H(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGGGCTGCGCATCAGTGGA	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		14490	0		0	False		,,,				2504	0				p.R392H		.											.	CHRD-93	2	Substitution - Missense(2)	lung(2)	c.G1175A						.	G	HIS/ARG	2,4402		0,2,2200	15	15	15		1175	4.5	1	3		15	0,8596		0,0,4298	yes	missense	CHRD	NM_003741.2	29	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	392/956	184100913	2,12998	2202	4298	6500	SO:0001583	missense	8646	exon10			GGCTGCGCATCAG	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1175G>A	3.37:g.184100913G>A	ENSP00000204604:p.Arg392His	Somatic	39	1		WXS	Illumina GAIIx	Phase_I	74	31	NM_003741	0	0	1	1	0	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.35	2.509777	0.44660	4.54E-4	0.0	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.52754	0.93;0.93;0.93;0.65	4.46	4.46	0.54185	CHRD (3);	0.148106	0.50627	D	0.000112	T	0.36166	0.0957	L	0.42245	1.32	0.44745	D	0.997741	B;P;B;P	0.49090	0.417;0.801;0.4;0.919	B;B;B;B	0.37833	0.055;0.118;0.236;0.259	T	0.28202	-1.0051	10	0.46703	T	0.11	-23.4508	10.7968	0.46466	0.0946:0.0:0.9054:0.0	.	22;392;392;392	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	392;392;392;22;105	ENSP00000204604:R392H;ENSP00000408972:R392H;ENSP00000334036:R392H;ENSP00000442948:R22H	ENSP00000204604:R392H	R	+	2	0	CHRD	185583607	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.508000	0.45450	2.198000	0.70561	0.462000	0.41574	CGC	G|0.999;A|0.000		0.657	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184100913	G	A	184100913	3	1	5	1	0	0	0	0	1	0	0	0	3379	1087	38	1	1213	1	CHRD	3	184100913	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1419173	184100913	13921517	103	564											
ETV5	2119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	185766567	185766567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggactctgccttcaggaacGgacgctggttatccgggaaa	13	11	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr3:185766567G>A	ENST00000306376.5	-	13	1640	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	ETV5_ENST00000434744.1_Missense_Mutation_p.P465L|ETV5_ENST00000537818.1_Missense_Mutation_p.P507L|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	465					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)			CTTCAGGAACGGACGCTGGTT	0.592			T	"TMPRSS2, SCL45A3"	Prostate																																p.P465L		.		Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5-706	0			c.C1394T						.						78	68	72					3																	185766567		2203	4300	6503	SO:0001583	missense	2119	exon13			AGGAACGGACGCT	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.1394C>T	3.37:g.185766567G>A	ENSP00000306894:p.Pro465Leu	Somatic	232	0		WXS	Illumina GAIIx	Phase_I	194	171	NM_004454	0	0	1	4	3	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949035	0.92660	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.53423	0.62;0.62;0.62	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66497	0.86;0.944	T	0.70601	-0.4827	10	0.59425	D	0.04	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	465;507	P41161;B7Z7D7	ETV5_HUMAN;.	L	465;465;507	ENSP00000306894:P465L;ENSP00000413755:P465L;ENSP00000441737:P507L	ENSP00000306894:P465L	P	-	2	0	ETV5	187249261	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CCG	.		0.592	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185766567	G	A	185766567	3	1	5	1	0	0	0	0	1	0	0	0	5298	1116	39	1	142	1	ETV5	3	185766567	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1665654	185766567	12255863	104	565											
KIAA1530	57654	broad.mit.edu	37	chr4	1373989	1373989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccgaggccagacggcCggctctgtgagcgccaagac	15	15	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:1373989C>T	ENST00000389851.4	+	11	2170	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	UVSSA_ENST00000511216.1_Missense_Mutation_p.R575W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R575W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R126W|UVSSA_ENST00000511563.1_Missense_Mutation_p.R126W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	575					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCCAGACGGCCGGCTCTGTGA	0.687																																					p.R575W		.											.	.	0			c.C1723T						.						39	39	39					4																	1373989		2200	4300	6500	SO:0001583	missense	57654	exon11			GACGGCCGGCTCT	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1723C>T	4.37:g.1373989C>T	ENSP00000374501:p.Arg575Trp	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	224	10	NM_020894	0	0	1	2	1	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646776	0.67358	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.46063	1.47;1.47;1.47;0.88;0.88	5.01	1.76	0.24704	.	0.677969	0.15483	N	0.259965	T	0.55097	0.1899	L	0.60455	1.87	0.26043	N	0.98158	D	0.89917	1.0	D	0.68353	0.957	T	0.43458	-0.9390	10	0.72032	D	0.01	.	9.0765	0.36525	0.6552:0.2398:0.1049:0.0	.	575	Q2YD98	K1530_HUMAN	W	126;575;575;575;126;126	ENSP00000425130:R575W;ENSP00000374501:R575W;ENSP00000421741:R575W;ENSP00000423340:R126W;ENSP00000427701:R126W	ENSP00000296312:R126W	R	+	1	2	KIAA1530	1363989	0.996000	0.38824	0.975000	0.42487	0.805000	0.45488	2.188000	0.42612	0.442000	0.26555	0.561000	0.74099	CGG	.		0.687	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		T	1373989	C	T	1373989	3	4	5	1	0	0	0	0	1	0	0	0	8268	643	23	1	1761	1	KIAA1530	4	1373989	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		1373989	189780287	105	566											
KIAA1530	57654	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr4	1374002	1374002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacggccggctctgtgagcGccaagaccggctgaaggtga	16	11	1	5			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:1374002G>A	ENST00000389851.4	+	11	2183	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	UVSSA_ENST00000511216.1_Missense_Mutation_p.R579H|UVSSA_ENST00000507531.1_Missense_Mutation_p.R579H|UVSSA_ENST00000512728.1_Missense_Mutation_p.R130H|UVSSA_ENST00000511563.1_Missense_Mutation_p.R130H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	579					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CTCTGTGAGCGCCAAGACCGG	0.701																																					p.R579H		.											.	.	0			c.G1736A						.						30	31	31					4																	1374002		2199	4298	6497	SO:0001583	missense	57654	exon11			GTGAGCGCCAAGA	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1736G>A	4.37:g.1374002G>A	ENSP00000374501:p.Arg579His	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	161	81	NM_020894	0	0	0	2	2	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546547	0.86022	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.78816	0.12;0.12;0.12;-1.21;-1.21	5.01	4.16	0.48862	.	0.099386	0.64402	D	0.000003	D	0.89829	0.6828	M	0.89601	3.045	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.91890	0.5523	10	0.87932	D	0	.	15.346	0.74337	0.0:0.1405:0.8595:0.0	.	579	Q2YD98	K1530_HUMAN	H	130;579;579;579;130;130	ENSP00000425130:R579H;ENSP00000374501:R579H;ENSP00000421741:R579H;ENSP00000423340:R130H;ENSP00000427701:R130H	ENSP00000296312:R130H	R	+	2	0	KIAA1530	1364002	1.000000	0.71417	0.964000	0.40570	0.918000	0.54935	6.825000	0.75293	1.071000	0.40834	0.561000	0.74099	CGC	.		0.701	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1374002	G	A	1374002	3	1	5	1	0	0	0	0	1	0	0	0	8268	1087	38	1	1774	1	KIAA1530	4	1374002	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13	1374002	189780274	106	567											
MFSD10	10227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	2933798	2933798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggtgggtcctggccaCgagcgacagccgagaagcgc	17	12	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:2933798C>T	ENST00000329687.4	-	6	1310	c.776G>A	c.(775-777)cGt>cAt	p.R259H	MFSD10_ENST00000514800.1_Missense_Mutation_p.R259H|MFSD10_ENST00000507555.1_Missense_Mutation_p.R259H|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.R259H|MFSD10_ENST00000508221.1_Missense_Mutation_p.R259H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	259					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCCTGGCCACGAGCGACAGC	0.682																																					p.R259H		.											.	MFSD10-68	0			c.G776A						.						27	26	26					4																	2933798		2199	4295	6494	SO:0001583	missense	10227	exon6			TGGCCACGAGCGA	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.776G>A	4.37:g.2933798C>T	ENSP00000332646:p.Arg259His	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	133	20	NM_001120	0	0	37	47	10	Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493496	0.26774	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	4.91	-0.204	0.13200	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.220796	0.44688	N	0.000431	T	0.41650	0.1168	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.18863	0.008;0.016;0.031;0.005	B;B;B;B	0.14023	0.007;0.01;0.007;0.007	T	0.21245	-1.0251	10	0.35671	T	0.21	-17.8465	9.1596	0.37014	0.0:0.5975:0.0:0.4025	.	259;259;259;259	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	H	259	ENSP00000426907:R259H;ENSP00000347619:R259H;ENSP00000332646:R259H;ENSP00000425757:R259H;ENSP00000423402:R259H	ENSP00000332646:R259H	R	-	2	0	MFSD10	2903596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.734000	0.04893	-0.451000	0.07097	-0.156000	0.13503	CGT	.		0.682	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		T	2933798	C	T	2933798	3	4	5	1	0	0	0	0	1	0	0	0	9566	536	19	1	619	1	MFSD10	4	2933798	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1559796	2933798	188220478	107	568											
ADRA2C	152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3768709	3768709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcaggtgtggtgcggcGtgtacctggcgctcgatgtg	19	9	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:3768709G>A	ENST00000330055.5	+	1	585	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	ADRA2C_ENST00000509482.1_Missense_Mutation_p.V126M	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	126					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V126L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGGTGCGGCGTGTACCTGGC	0.632																																					p.V126M	Esophageal Squamous(12;454 628 4517 14479)	.											.	ADRA2C-522	1	Substitution - Missense(1)	lung(1)	c.G376A						.						82	82	82					4																	3768709		2203	4300	6503	SO:0001583	missense	152	exon1			TGCGGCGTGTACC	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.376G>A	4.37:g.3768709G>A	ENSP00000386069:p.Val126Met	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	178	45	NM_000683	0	0	3	3	0	P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271824	0.40194	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.39592	1.07;1.07	3.21	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21103	0.0508	N	0.26130	0.795	0.39426	D	0.967009	P;P	0.42584	0.784;0.642	B;B	0.34824	0.19;0.169	T	0.06058	-1.0848	9	0.32370	T	0.25	.	3.1662	0.06536	0.4381:0.0:0.5619:0.0	.	126;126	D6RGL0;P18825	.;ADA2C_HUMAN	M	126	ENSP00000426268:V126M;ENSP00000386069:V126M	ENSP00000386069:V126M	V	+	1	0	ADRA2C	3738507	0.998000	0.40836	0.993000	0.49108	0.764000	0.43329	2.786000	0.47790	1.631000	0.50456	0.561000	0.74099	GTG	.		0.632	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		A	3768709	G	A	3768709	3	1	5	1	0	0	0	0	1	0	0	0	339	1145	40	1	378	1	ADRA2C	4	3768709	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	834911	3768709	187385567	108	569											
CRMP1	1400	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	5844857	5844857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatggccctcgggacccGtgatgcccatctccaggatc	13	15	1	1	rs142255876		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:5844857G>A	ENST00000397890.2	-	7	867	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CRMP1_ENST00000324989.7_Missense_Mutation_p.T332M|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.T216M	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	218					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTCGGGACCCGTGATGCCCAT	0.537																																					p.T332M		.											.	CRMP1-92	0			c.C995T						.	G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	167	142	151		995,653	4.3	1	4	dbSNP_134	151	0,8600		0,0,4300	yes	missense,missense	CRMP1	NM_001014809.1,NM_001313.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	332/687,218/573	5844857	2,13004	2203	4300	6503	SO:0001583	missense	1400	exon7			GGACCCGTGATGC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.653C>T	4.37:g.5844857G>A	ENSP00000380987:p.Thr218Met	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	359	31	NM_001014809	0	0	5	6	1	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624377	0.66901	4.54E-4	0.0	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90069	-2.61;-2.61;-2.61	4.32	4.32	0.51571	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.057239	0.64402	D	0.000001	D	0.94791	0.8318	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.992;0.983	D;D;P;P	0.65874	0.939;0.913;0.641;0.726	D	0.95775	0.8812	10	0.87932	D	0	-24.6005	16.364	0.83307	0.0:0.0:1.0:0.0	.	332;216;218;155	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	M	332;218;218;216	ENSP00000321606:T332M;ENSP00000380987:T218M;ENSP00000425742:T216M	ENSP00000321606:T332M	T	-	2	0	CRMP1	5895758	1.000000	0.71417	0.956000	0.39512	0.452000	0.32318	7.250000	0.78287	2.408000	0.81797	0.591000	0.81541	ACG	G|1.000;A|0.000		0.537	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		A	5844857	G	A	5844857	3	1	5	1	0	0	0	0	1	0	0	0	3897	1145	40	1	1097	1	CRMP1	4	5844857	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2076148	5844857	185309419	109	570											
SORCS2	57537	broad.mit.edu	37	chr4	7716056	7716056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggagcttcacgtcggcGctcacgtcccgcgtgtgcga	16	13	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:7716056G>A	ENST00000507866.2	+	16	2188	c.2079G>A	c.(2077-2079)gcG>gcA	p.A693A	SORCS2_ENST00000329016.9_Silent_p.A521A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	693					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACGTCGGCGCTCACGTCCC	0.637																																					p.A693A		.											.	SORCS2-91	0			c.G2079A						.						37	43	41					4																	7716056		2070	4201	6271	SO:0001819	synonymous_variant	57537	exon16			GTCGGCGCTCACG	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2079G>A	4.37:g.7716056G>A		Somatic	75	1		WXS	Illumina GAIIx	Phase_I	276	13	NM_020777	0	0	0	0	0	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																			.		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7716056	G	A	7716056	2	1	5	1	0	0	0	0	0	0	0	1	14976	1074	38	1		1	SORCS2	4	7716056	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1871199	7716056	183438220	110	571											
SORCS2	57537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	7738821	7738821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggcaggaccgtgtacGcccaaatgcacaacgagaag	13	12	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:7738821G>A	ENST00000507866.2	+	26	3446	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	SORCS2_ENST00000329016.9_Missense_Mutation_p.A942T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GACCGTGTACGCCCAAATGCA	0.622																																					p.A1113T		.											.	SORCS2-91	0			c.G3337A						.						54	69	64					4																	7738821		1898	3650	5548	SO:0001583	missense	57537	exon26			GTGTACGCCCAAA	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3337G>A	4.37:g.7738821G>A	ENSP00000422185:p.Ala1113Thr	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	273	110	NM_020777	0	0	3	3	0	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820474	0.50633	.	.	ENSG00000184985	ENST00000507866;ENST00000329016;ENST00000505529	T;T	0.22945	1.93;2.02	4.34	3.48	0.39840	.	0.069551	0.56097	D	0.000027	T	0.42177	0.1191	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.16808	-1.0390	10	0.40728	T	0.16	.	13.6276	0.62176	0.0:0.0:0.8436:0.1564	.	942;1113	B5MED8;Q96PQ0	.;SORC2_HUMAN	T	1113;942;41	ENSP00000422185:A1113T;ENSP00000329124:A942T	ENSP00000329124:A942T	A	+	1	0	SORCS2	7789721	1.000000	0.71417	0.995000	0.50966	0.055000	0.15305	8.655000	0.91098	1.015000	0.39444	0.655000	0.94253	GCC	.		0.622	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7738821	G	A	7738821	3	1	5	1	0	0	0	0	1	0	0	0	14976	1087	38	1	3439	1	SORCS2	4	7738821	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	22765	7738821	183415455	111	572											
WDR1	9948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	10086077	10086077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggatattaatgtgtccGtcgtggctcccagagtaaat	10	8	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:10086077G>A	ENST00000499869.2	-	9	1222	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_Silent_p.D343D|WDR1_ENST00000502702.1_Silent_p.D203D|WDR1_ENST00000382451.2_Silent_p.D203D			O75083	WDR1_HUMAN	WD repeat domain 1	343					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TAATGTGTCCGTCGTGGCTCC	0.552																																					p.D343D		.											.	WDR1-48	0			c.C1029T						.						97	103	101					4																	10086077		1941	4137	6078	SO:0001819	synonymous_variant	9948	exon9			GTGTCCGTCGTGG	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1029C>T	4.37:g.10086077G>A		Somatic	220	0		WXS	Illumina GAIIx	Phase_I	324	54	NM_017491	0	0	0	0	0	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	CCDS54740.1																																																																																			.		0.552	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			A	10086077	G	A	10086077	2	1	5	1	0	0	0	0	0	0	0	1	17321	1136	40	1		1	WDR1	4	10086077	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2347256	10086077	181068199	112	573											
SLIT2	9353	broad.mit.edu;bcgsc.ca	37	chr4	20469421	20469421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcccaaggaaagctttcCgtggggcagttgacataaaa	10	9	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:20469421C>T	ENST00000504154.1	+	5	694	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R148C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R148C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R148C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	148					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						GAAAGCTTTCCGTGGGGCAGT	0.269																																					p.R148C		.											.	SLIT2-521	0			c.C442T						.						33	36	35					4																	20469421		2203	4300	6503	SO:0001583	missense	9353	exon5			GCTTTCCGTGGGG	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.442C>T	4.37:g.20469421C>T	ENSP00000422591:p.Arg148Cys	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	169	8	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950667	0.73787	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83755	1.83;1.83;1.83;1.83;-1.76	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.88091	0.2813	10	0.87932	D	0	.	20.0189	0.97489	0.0:1.0:0.0:0.0	.	148;148	O94813-3;O94813	.;SLIT2_HUMAN	C	148;148;148;148;148;109	ENSP00000427548:R148C;ENSP00000422591:R148C;ENSP00000273739:R148C;ENSP00000422261:R148C;ENSP00000426356:R109C	ENSP00000273739:R148C	R	+	1	0	SLIT2	20078519	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	4.721000	0.61951	2.834000	0.97654	0.650000	0.86243	CGT	.		0.269	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			T	20469421	C	T	20469421	3	4	5	1	0	0	0	0	1	0	0	0	14785	652	23	1	460	1	SLIT2	4	20469421	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	10383344	20469421	170684855	113	574											
PPARGC1A	10891	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	23803958	23803958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaccgacataaatcacaCggcgctcttcctatgggggg	10	11	2	0	rs539338812		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:23803958C>T	ENST00000264867.2	-	11	2149	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	677	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATAAATCACACGGCGCTCTTC	0.507													c|||	1	0.000199681	0	0	5008	,	,		16842	0		0	False		,,,				2504	0.001				p.R677H	Esophageal Squamous(29;694 744 13796 34866 44181)	.											.	PPARGC1A-230	0			c.G2030A						.						95	94	94					4																	23803958		2203	4300	6503	SO:0001583	missense	10891	exon11			ATCACACGGCGCT	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2030G>A	4.37:g.23803958C>T	ENSP00000264867:p.Arg677His	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	177	77	NM_013261	0	0	0	0	0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647442	0.67358	.	.	ENSG00000109819	ENST00000264867	T	0.46063	0.88	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81024	-0.1120	10	0.59425	D	0.04	-4.9562	19.0215	0.92917	0.0:1.0:0.0:0.0	.	677	Q9UBK2	PRGC1_HUMAN	H	677	ENSP00000264867:R677H	ENSP00000264867:R677H	R	-	2	0	PPARGC1A	23413056	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.443000	0.80521	2.582000	0.87167	0.457000	0.33378	CGT	.		0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23803958	C	T	23803958	3	4	5	1	0	0	0	0	1	0	0	0	12339	536	19	1	378	1	PPARGC1A	4	23803958	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3334537	23803958	167350318	114	575											
CCDC149	91050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	24821571	24821571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccactaggaagagtggggtCgctgaacagtatggtgtcct	14	8	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:24821571C>T	ENST00000389609.4	-	12	1212	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	CCDC149_ENST00000504487.1_Missense_Mutation_p.D357N|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000508236.1_5'Flank|CCDC149_ENST00000428116.2_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	302										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				AGAGTGGGGTCGCTGAACAGT	0.502																																					p.D357N		.											.	CCDC149-68	0			c.G1069A						.						114	109	111					4																	24821571		692	1591	2283	SO:0001583	missense	91050	exon12			TGGGGTCGCTGAA		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1069G>A	4.37:g.24821571C>T	ENSP00000374260:p.Asp357Asn	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	253	113	NM_173463	0	0	4	17	13	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934148	0.52866	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116	.	.	.	5.62	5.62	0.85841	.	0.207319	0.42172	D	0.000748	T	0.36690	0.0976	L	0.29908	0.895	0.80722	D	1	P;P	0.46220	0.665;0.874	B;B	0.30572	0.03;0.117	T	0.31888	-0.9927	9	0.37606	T	0.19	-2.9835	16.4093	0.83701	0.0:1.0:0.0:0.0	.	302;357	Q6ZUS6;G5EA04	CC149_HUMAN;.	N	357;357;281	.	ENSP00000371550:D281N	D	-	1	0	CCDC149	24430669	0.996000	0.38824	0.465000	0.27155	0.840000	0.47671	4.421000	0.59848	2.648000	0.89879	0.650000	0.86243	GAC	.		0.502	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		T	24821571	C	T	24821571	3	4	5	1	0	0	0	0	1	0	0	0	2790	884	31	1	528	1	CCDC149	4	24821571	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1017613	24821571	166332705	115	576											
FRYL	285527	hgsc.bcm.edu;bcgsc.ca	37	chr4	48555392	48555394	+	In_Frame_Del	DEL	CTT	CTT	-													ctacctaaatatacaatgacCttcttcacctgtcacaaaag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:48555392_48555394delCTT	ENST00000503238.1	-	33	4272_4274	c.4273_4275delAAG	c.(4273-4275)aagdel	p.K1425del	FRYL_ENST00000507711.1_In_Frame_Del_p.K1425del|FRYL_ENST00000537810.1_In_Frame_Del_p.K1425del|FRYL_ENST00000358350.4_In_Frame_Del_p.K1425del|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATACAATGACCTTCTTCACCTGT	0.379																																					p.1425_1425del		.											.	FRYL-69	0			c.4273_4275del						.																																			SO:0001651	inframe_deletion	285527	exon36			AATGACCTTCTTC	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4273_4275delAAG	4.37:g.48555395_48555397delCTT	ENSP00000426064:p.Lys1425del	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	100	30	NM_015030	0	0	0	0	0	O95640|Q8WTZ5|Q9NT40	In_Frame_Del	DEL	ENST00000503238.1	37	CCDS43227.1																																																																																			.		0.379	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			-	48555394	CTT	-	48555392	7	5	5	1	0	1	0	1	0	0	0	0	6088	680	24	0	4882	0	FRYL	4	48555392	In_Frame_Del	DEL	CTT	TCGA-OR-A5J5-01A-11D-A29I-10	23733821	48555392	142598884	116	577											
KDR	3791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55973911	55973911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccttactcacctgggctCgttggcgcactcttcctcca	9	16	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:55973911C>T	ENST00000263923.4	-	10	1700	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	469	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCTGGGCTCGTTGGCGCAC	0.512			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																											p.E469K		.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	KDR-2298	0			c.G1405A						.						165	141	149					4																	55973911		2203	4300	6503	SO:0001583	missense	3791	exon10			TGGGCTCGTTGGC	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1405G>A	4.37:g.55973911C>T	ENSP00000263923:p.Glu469Lys	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	282	147	NM_002253	0	0	0	0	0	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888541	0.17540	.	.	ENSG00000128052	ENST00000263923	T	0.75477	-0.94	5.29	-2.4	0.06583	Immunoglobulin subtype (1);Immunoglobulin-like (1);	2.299140	0.01142	N	0.006236	T	0.38321	0.1036	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49476	-0.8936	10	0.05959	T	0.93	.	1.3869	0.02242	0.1184:0.2106:0.2613:0.4097	.	469;469	P35968-2;P35968	.;VGFR2_HUMAN	K	469	ENSP00000263923:E469K	ENSP00000263923:E469K	E	-	1	0	KDR	55668668	0.002000	0.14202	0.000000	0.03702	0.436000	0.31835	0.095000	0.15127	-0.556000	0.06134	-0.657000	0.03884	GAG	.		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55973911	C	T	55973911	3	4	5	1	0	0	0	0	1	0	0	0	8166	893	31	1	2749	1	KDR	4	55973911	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	7418519	55973911	135180365	117	578											
AMTN	401138	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	71394929	71394930	+	Splice_Site	INS	-	-	A													ctaagctcagaggaattggtINSaaaaaaaataaaaatactat							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:71394929_71394930insA	ENST00000339336.4	+	7	487		c.e7+2		AMTN_ENST00000504451.1_Splice_Site	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GAGGAATTGGTAAAAAAAATAA	0.267																																					.		.											.	AMTN-153	0			c.357+2->A						.			4,4186		0,4,2091						5.3	1			32	10,8130		0,10,4060	no	splice-5	AMTN	NM_212557.2		0,14,6151	A1A1,A1R,RR		0.1229,0.0955,0.1135				14,12316				SO:0001630	splice_region_variant	401138	exon7			AATTGGTAAAAAA	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.357+2->A	4.37:g.71394937_71394937dupA		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	194	63	NM_212557	0	0	0	0	0	Q0P503|Q0P506	Splice_Site	INS	ENST00000339336.4	37	CCDS3542.1																																																																																			.		0.267	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	Intron	A	71394930	-	A	71394929	8	5	5	1	0	1	1	0	0	0	1	0	590	1652	57	0	381	0	AMTN	4	71394929	Splice_Site	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	15421018	71394929	119759347	118	579											
HNRPDL	9987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	83347682	83347682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacccagtataatcatatcCgccatagccactatagtttt	4	11	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:83347682C>T	ENST00000295470.5	-	6	1301	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G376R|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G257R|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	376	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TAATCATATCCGCCATAGCCA	0.358																																					p.G376R		.											.	HNRPDL-91	0			c.G1126A						.						115	111	113					4																	83347682		2203	4300	6503	SO:0001583	missense	9987	exon6			CATATCCGCCATA	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1126G>A	4.37:g.83347682C>T	ENSP00000295470:p.Gly376Arg	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	156	70	NM_031372	1	0	79	119	39	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.918527	0.52546	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.88124	-2.34;-2.34	5.74	4.9	0.64082	.	0.109676	0.64402	N	0.000009	D	0.88157	0.6361	M	0.83603	2.65	0.80722	D	1	B	0.19073	0.033	B	0.13407	0.009	D	0.86435	0.1763	10	0.87932	D	0	.	14.8212	0.70074	0.0:0.9312:0.0:0.0688	.	376	O14979	HNRDL_HUMAN	R	376	ENSP00000295470:G376R;ENSP00000422040:G376R	ENSP00000295470:G376R	G	-	1	0	HNRPDL	83566706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.267000	0.43329	1.571000	0.49722	0.561000	0.74099	GGA	.		0.358	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		T	83347682	C	T	83347682	3	4	5	1	0	0	0	0	1	0	0	0	7303	661	23	1	144	1	HNRPDL	4	83347682	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	11952753	83347682	107806594	119	580											
PKD2	5311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	88996108	88996108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttggatggggtggcCgaggtcagtagtcatgagct	18	6	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:88996108C>T	ENST00000508588.1	+	9	1316	c.921C>T	c.(919-921)gcC>gcT	p.A307A	PKD2_ENST00000502363.1_Silent_p.A307A|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Silent_p.A889A			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGGGGTGGCCGAGGTCAGTA	0.468																																					p.A889A		.											.	PKD2-91	0			c.C2667T						.						144	112	123					4																	88996108		2203	4300	6503	SO:0001819	synonymous_variant	5311	exon14			GGTGGCCGAGGTC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.921C>T	4.37:g.88996108C>T		Somatic	231	0		WXS	Illumina GAIIx	Phase_I	295	78	NM_000297	0	0	0	0	0	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000508588.1	37																																																																																				.		0.468	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		T	88996108	C	T	88996108	2	4	5	1	0	0	0	0	0	0	0	1	12005	639	23	1		1	PKD2	4	88996108	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5648426	88996108	102158168	120	581											
FAM13A	10144	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	89670963	89670963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctatcttcaaacttccGgatcttctttttaaggctct	5	10	6	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:89670963G>A	ENST00000264344.5	-	16	2245	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	FAM13A_ENST00000508369.1_Missense_Mutation_p.R354W|FAM13A_ENST00000395002.2_Missense_Mutation_p.R354W|FAM13A_ENST00000503556.1_Missense_Mutation_p.R340W|FAM13A_ENST00000511976.1_Missense_Mutation_p.R266W|FAM13A_ENST00000513837.1_Missense_Mutation_p.R326W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	680					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCAAACTTCCGGATCTTCTTT	0.502																																					p.R680W		.											.	FAM13A-70	0			c.C2038T						.						126	113	117					4																	89670963		2203	4300	6503	SO:0001583	missense	10144	exon16			ACTTCCGGATCTT	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2038C>T	4.37:g.89670963G>A	ENSP00000264344:p.Arg680Trp	Somatic	68	2		WXS	Illumina GAIIx	Phase_I	133	37	NM_014883	0	0	3	3	0	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301112	0.81136	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.52983	0.64;1.9;1.22;1.24;1.22;1.22	5.64	3.71	0.42584	.	0.112431	0.64402	D	0.000014	T	0.65974	0.2743	M	0.72118	2.19	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	0.72982	0.979;0.977;0.977;0.971;0.977;0.971;0.979	T	0.71461	-0.4586	10	0.87932	D	0	.	13.9434	0.64069	0.0:0.0:0.6261:0.3739	.	326;359;266;680;354;340;354	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	W	354;680;340;266;354;326	ENSP00000378450:R354W;ENSP00000264344:R680W;ENSP00000427189:R340W;ENSP00000421914:R266W;ENSP00000421562:R354W;ENSP00000423252:R326W	ENSP00000264344:R680W	R	-	1	2	FAM13A	89889986	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.493000	0.45320	1.541000	0.49316	0.650000	0.86243	CGG	.		0.502	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89670963	G	A	89670963	3	1	5	1	0	0	0	0	1	0	0	0	5471	1115	39	1	1069	1	FAM13A	4	89670963	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	674855	89670963	101483313	121	582											
LARP7	51574	hgsc.bcm.edu	37	chr4	113578482	113578483	+	Stop_Codon_Ins	INS	-	-	A													agattttctgaatatgattgINSaaaaaaaaaacagttcacct							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:113578482_113578483insA	ENST00000344442.5	+	0	2026_2027				LARP7_ENST00000509061.1_Stop_Codon_Ins|LARP7_ENST00000324052.6_Stop_Codon_Ins|LARP7_ENST00000503898.1_3'UTR	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAATATGATTGAAAAAAAAAAC	0.302																																					p.X590delinsX		.											.	LARP7-93	0			c.1769_1770insA						.																																			SO:0001567	stop_retained_variant	51574	exon15			ATGATTGAAAAAA	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1756dupA	4.37:g.113578492_113578492dupA		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	215	48	NM_001267039	0	0	0	0	0	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Ins	INS	ENST00000344442.5	37	CCDS3701.2																																																																																			.		0.302	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113578483	-	A	113578482	7	5	5	1	0	1	1	0	0	0	0	0	8661	1285	45	0	1794	0	LARP7	4	113578482	Stop_Codon_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	23907519	113578482	77575794	122	583											
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	138442414	138442414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggattttgaaaatgcgtActggctgcccatgccgctac	12	10	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:138442414A>G	ENST00000344876.4	-	4	3563	c.3177T>C	c.(3175-3177)agT>agC	p.S1059S	PCDH18_ENST00000511115.1_Silent_p.S239S|PCDH18_ENST00000412923.2_Silent_p.S1058S|PCDH18_ENST00000507846.1_Silent_p.S838S|PCDH18_ENST00000510305.1_Silent_p.S270S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1059	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAAAATGCGTACTGGCTGCCC	0.587																																					p.S1059S		.											.	PCDH18-185	0			c.T3177C						.						43	42	42					4																	138442414		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon4			ATGCGTACTGGCT	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3177T>C	4.37:g.138442414A>G		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	267	104	NM_019035	0	0	5	11	6	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																			.		0.587	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		G	138442414	A	G	138442414	2	3	5	1	0	0	0	0	0	0	0	1	11552	388	14	4		4	PCDH18	4	138442414	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	24863932	138442414	52711862	123	584											
MAP9	79884	broad.mit.edu	37	chr4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-													tttgcttgaaaaaagcttccTttttttcattcctatagagc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:156273869delT	ENST00000311277.4	-	13	1963	c.1700delA	c.(1699-1701)aagfs	p.K567fs	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Frame_Shift_Del_p.K543fs|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	567					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.279																																					p.K567fs		.											.	MAP9-91	0			c.1700delA						.						69	69	69					4																	156273869		2201	4294	6495	SO:0001589	frameshift_variant	79884	exon13			GCTTCCTTTTTTT	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.1700delA	4.37:g.156273869delT	ENSP00000310593:p.Lys567fs	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_001039580	0	0	0	0	0	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Frame_Shift_Del	DEL	ENST00000311277.4	37	CCDS35493.1																																																																																			.		0.279	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		-	156273869	T	-	156273869	7	5	5	1	0	1	0	1	0	0	0	0	9308	1609	56	0	251	0	MAP9	4	156273869	Frame_Shift_Del	DEL	T	TCGA-OR-A5J5-01A-11D-A29I-10	17831455	156273869	34880407	124	585											
GUCY1B3	2983	broad.mit.edu;bcgsc.ca	37	chr4	156680986	156680986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggtgatccgcaattaCggccccgaggtgtgggaaga	15	9	0	2	rs372884496		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr4:156680986C>T	ENST00000264424.8	+	2	133	c.51C>T	c.(49-51)taC>taT	p.Y17Y	GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000505764.1_5'UTR|GUCY1B3_ENST00000503520.1_Silent_p.Y17Y|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000502959.1_Silent_p.Y17Y	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	17					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCCGCAATTACGGCCCCGAGG	0.647																																					p.Y17Y		.											.	.	0			c.C51T						.	C		0,3928		0,0,1964	57	61	60		51	2.3	1	4		60	1,8305		0,1,4152	no	coding-synonymous	GUCY1B3	NM_000857.2		0,1,6116	TT,TC,CC		0.012,0.0,0.0082		17/620	156680986	1,12233	1964	4153	6117	SO:0001819	synonymous_variant	2983	exon2			CAATTACGGCCCC	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.51C>T	4.37:g.156680986C>T		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	241	121	NM_000857	0	0	0	0	0	B7Z426|Q86WY5	Silent	SNP	ENST00000264424.8	37	CCDS47154.1																																																																																			.		0.647	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			T	156680986	C	T	156680986	2	4	5	1	0	0	0	0	0	0	0	1	6922	547	19	1		1	GUCY1B3	4	156680986	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	407117	156680986	34473290	125	586											
CLPTM1L	81037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	1339097	1339097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcatccagggcactcgtCggcttcttctccgcctcgat	10	16	3	0	rs376216239		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:1339097C>T	ENST00000320895.5	-	4	734	c.477G>A	c.(475-477)ccG>ccA	p.P159P	CLPTM1L_ENST00000507807.1_Silent_p.P26P|CLPTM1L_ENST00000320927.6_Silent_p.P159P	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	159					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGGCACTCGTCGGCTTCTTCT	0.607																																					p.P159P		.											.	CLPTM1L-153	0			c.G477A						.	C		0,4406		0,0,2203	49	44	46		477	-5.6	0	5		46	1,8599		0,1,4299	no	coding-synonymous	CLPTM1L	NM_030782.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		159/539	1339097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81037	exon4			ACTCGTCGGCTTC	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.477G>A	5.37:g.1339097C>T		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	322	160	NM_030782	0	0	1	1	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																			.		0.607	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		T	1339097	C	T	1339097	2	4	5	1	0	0	0	0	0	0	0	1	3562	871	31	1		1	CLPTM1L	5	1339097	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		1339097	179576163	126	587											
ADAMTS16	170690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	5146290	5146290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccacaggggcgattacGtgtcccatgaaatcatgcac	10	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:5146290G>A	ENST00000274181.7	+	3	361	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.V75M|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	75					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						GGGCGATTACGTGTCCCATGA	0.527																																					p.V75M		.											.	ADAMTS16-275	0			c.G223A						.						61	61	61					5																	5146290		2036	4181	6217	SO:0001583	missense	170690	exon3			GATTACGTGTCCC	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.223G>A	5.37:g.5146290G>A	ENSP00000274181:p.Val75Met	Somatic	150	1		WXS	Illumina GAIIx	Phase_I	221	80	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557557	0.45590	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05580	3.42;3.42	5.55	1.93	0.25924	Peptidase M12B, propeptide (1);	0.309061	0.29192	N	0.012864	T	0.04815	0.0130	L	0.39147	1.195	0.33043	D	0.531778	P;P;P	0.43169	0.524;0.633;0.8	B;B;B	0.39379	0.058;0.143;0.298	T	0.30297	-0.9983	10	0.45353	T	0.12	.	2.6937	0.05128	0.3659:0.0:0.4339:0.2002	.	75;75;75	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	75	ENSP00000274181:V75M;ENSP00000421631:V75M	ENSP00000274181:V75M	V	+	1	0	ADAMTS16	5199290	0.785000	0.28726	0.645000	0.29479	0.850000	0.48378	1.228000	0.32588	0.677000	0.31305	0.563000	0.77884	GTG	.		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5146290	G	A	5146290	3	1	5	1	0	0	0	0	1	0	0	0	261	1145	40	1	233	1	ADAMTS16	5	5146290	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3807193	5146290	175768970	127	588											
TRIO	7204	hgsc.bcm.edu	37	chr5	14488142	14488142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcggtcccttctctcGgcaaggagcccttccccccc	9	21	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:14488142G>A	ENST00000344204.4	+	48	7429	c.7405G>A	c.(7405-7407)Ggc>Agc	p.G2469S	TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344135.5_5'Flank	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2469					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)					CCCTTCTCTCGGCAAGGAGCC	0.741																																					p.G2469S		.											.	TRIO-562	0			c.G7405A						.																																			SO:0001583	missense	7204	exon48			TCTCTCGGCAAGG	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.7405G>A	5.37:g.14488142G>A	ENSP00000339299:p.Gly2469Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	22	7	NM_007118	0	0	3	8	5	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	g	17.69	3.451224	0.63290	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T	0.63913	-0.07	4.66	4.66	0.58398	.	0.212294	0.40908	D	0.000987	T	0.50377	0.1612	L	0.29908	0.895	0.80722	D	1	P;P	0.44044	0.501;0.825	B;B	0.41299	0.056;0.353	T	0.47774	-0.9091	10	0.09590	T	0.72	.	17.95	0.89050	0.0:0.0:1.0:0.0	.	2469;2469	O75962-5;O75962	.;TRIO_HUMAN	S	2469;2156	ENSP00000339299:G2469S	ENSP00000339299:G2469S	G	+	1	0	TRIO	14541142	1.000000	0.71417	0.779000	0.31741	0.558000	0.35554	7.340000	0.79292	2.310000	0.77875	0.556000	0.70494	GGC	.		0.741	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14488142	G	A	14488142	3	1	5	1	0	0	0	0	1	0	0	0	16600	1116	39	1	7595	1	TRIO	5	14488142	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9341852	14488142	166427118	128	589											
MYO10	4651	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	16701081	16701081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtacttaccgaggactgCgccccctcagagctgaaccg	11	15	1	2	rs150139256	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:16701081C>T	ENST00000513610.1	-	25	3877	c.3423G>A	c.(3421-3423)gcG>gcA	p.A1141A	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000515803.1_Silent_p.A480A|MYO10_ENST00000505695.1_Silent_p.A480A|MYO10_ENST00000274203.9_Silent_p.A498A|MYO10_ENST00000427430.2_Silent_p.A498A	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1141					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCGAGGACTGCGCCCCCTCAG	0.612													C|||	2	0.000399361	0.0015	0	5008	,	,		16592	0		0	False		,,,				2504	0				p.A1141A		.											.	MYO10-3	0			c.G3423A						.	C		1,4111		0,1,2055	14	15	15		3423	-9.7	0	5	dbSNP_134	15	0,8288		0,0,4144	no	coding-synonymous	MYO10	NM_012334.2		0,1,6199	TT,TC,CC		0.0,0.0243,0.0081		1141/2059	16701081	1,12399	2056	4144	6200	SO:0001819	synonymous_variant	4651	exon25			GGACTGCGCCCCC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3423G>A	5.37:g.16701081C>T		Somatic	129	2		WXS	Illumina GAIIx	Phase_I	278	124	NM_012334	0	0	0	1	1	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			C|0.999;T|0.000		0.612	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16701081	C	T	16701081	2	4	5	1	0	0	0	0	0	0	0	1	10100	755	27	1		1	MYO10	5	16701081	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2212939	16701081	164214179	129	590											
RNASEN	29102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	31526976	31526976	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctccatgtcctcctcGtcctcggggacaccctcgtc	9	18	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:31526976G>A	ENST00000511367.2	-	4	308	c.64C>T	c.(64-66)Cga>Tga	p.R22*	DROSHA_ENST00000442743.1_Nonsense_Mutation_p.R22*|DROSHA_ENST00000504361.1_5'UTR|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.R22*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.R22*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	22	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGTCCTCCTCGTCCTCGGGGA	0.478																																					p.R22X		.											.	DROSHA-227	0			c.C64T						.						49	50	50					5																	31526976		1968	4148	6116	SO:0001587	stop_gained	29102	exon4			CTCCTCGTCCTCG	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.64C>T	5.37:g.31526976G>A	ENSP00000425979:p.Arg22*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	60	12	NM_013235	0	0	3	3	0	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660923	0.88154	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	.	.	.	4.69	3.8	0.43715	.	0.335681	0.24048	N	0.042028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5257	14.0446	0.64698	0.0:0.0:0.8478:0.1522	.	.	.	.	X	22;22;22;22;15;15;22	.	ENSP00000265075:R15X	R	-	1	2	DROSHA	31562733	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	2.435000	0.44811	0.952000	0.37798	0.563000	0.77884	CGA	.		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31526976	G	A	31526976	4	1	5	1	0	0	0	0	0	1	0	0	13462	1153	40	1	4188	1	RNASEN	5	31526976	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	14825895	31526976	149388284	130	591											
C1QTNF3	114899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	34043081	34043081	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctccctcctggagccGctacggccagtctgctggtg	11	15	2	0	rs143587337		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:34043081G>A	ENST00000231338.7	-	1	172				RP11-1084J3.4_ENST00000382079.3_Intron|C1QTNF3_ENST00000382065.3_Silent_p.S50S	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3						cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCCTGGAGCCGCTACGGCCAG	0.493																																					p.S50S		.											.	C1QTNF3-90	0			c.C150T						.	G	,	1,4405	2.1+/-5.4	0,1,2202	141	145	144		,150	4.5	1	5	dbSNP_134	144	0,8600		0,0,4300	no	intron,coding-synonymous	C1QTNF3	NM_030945.3,NM_181435.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,50/320	34043081	1,13005	2203	4300	6503	SO:0001627	intron_variant	114899	exon1			GGAGCCGCTACGG	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"cartonectin"	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.84+65C>T	5.37:g.34043081G>A		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	167	85	NM_181435	0	0	0	0	0	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Silent	SNP	ENST00000231338.7	37	CCDS3904.1																																																																																			G|1.000;A|0.000		0.493	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		A	34043081	G	A	34043081	1	1	5	0	1	0	0	0	0	0	0	0	1971	1078	38	1		1	C1QTNF3	5	34043081	Intron	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2516105	34043081	146872179	131	592											
SLC38A9	153129	broad.mit.edu	37	chr5	54941671	54941671	+	Frame_Shift_Del	DEL	A	A	-													gtgatgatacaattatgaatAaaaaaagcaagggtaagcac							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:54941671delA	ENST00000396865.2	-	12	1704	c.1113delT	c.(1111-1113)tttfs	p.F371fs	SLC38A9_ENST00000512595.1_Frame_Shift_Del_p.F308fs|SLC38A9_ENST00000318672.3_Frame_Shift_Del_p.F371fs|SLC38A9_ENST00000416547.2_Frame_Shift_Del_p.F247fs|SLC38A9_ENST00000539768.1_Frame_Shift_Del_p.F371fs|SLC38A9_ENST00000515629.1_Frame_Shift_Del_p.F308fs	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	371					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATTATGAATAAAAAAAGCAA	0.313																																					p.F371fs		.											.	SLC38A9-68	0			c.1113delT						.						94	95	95					5																	54941671		2203	4299	6502	SO:0001589	frameshift_variant	153129	exon12			ATGAATAAAAAAA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1113delT	5.37:g.54941671delA	ENSP00000380074:p.Phe371fs	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	35	9	NM_173514	0	0	0	0	0	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Frame_Shift_Del	DEL	ENST00000396865.2	37	CCDS3968.1																																																																																			.		0.313	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		-	54941671	A	-	54941671	7	5	5	1	0	1	0	1	0	0	0	0	14656	359	13	0	592	0	SLC38A9	5	54941671	Frame_Shift_Del	DEL	A	TCGA-OR-A5J5-01A-11D-A29I-10	20898590	54941671	125973589	132	593											
MAP3K1	4214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56189493	56189493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgaagcatccagtctttCgtactacatggtagccaatt	7	10	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:56189493C>T	ENST00000399503.3	+	20	4525	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1509					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)		TCCAGTCTTTCGTACTACATG	0.423																																					p.R1509C		.											.	MAP3K1-956	0			c.C4525T						.						83	75	78					5																	56189493		1905	4140	6045	SO:0001583	missense	4214	exon20			GTCTTTCGTACTA	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.4525C>T	5.37:g.56189493C>T	ENSP00000382423:p.Arg1509Cys	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	233	111	NM_005921	0	0	1	2	1		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105027	0.77096	.	.	ENSG00000095015	ENST00000399503	T	0.26067	1.76	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37753	-0.9692	10	0.87932	D	0	.	20.4375	0.99097	0.0:1.0:0.0:0.0	.	1509	Q13233	M3K1_HUMAN	C	1509	ENSP00000382423:R1509C	ENSP00000382423:R1509C	R	+	1	0	MAP3K1	56225250	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.950000	0.63603	2.906000	0.99361	0.655000	0.94253	CGT	.		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56189493	C	T	56189493	3	4	5	1	0	0	0	0	1	0	0	0	9281	884	31	1	4603	1	MAP3K1	5	56189493	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1247822	56189493	124725767	133	594											
ELOVL7	79993	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	60062450	60062450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaataaagccagcaggtaCgtgccatctgcagaagcaca	10	10	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:60062450C>T	ENST00000508821.1	-	6	658	c.344G>A	c.(343-345)cGt>cAt	p.R115H	ELOVL7_ENST00000438340.1_Missense_Mutation_p.R115H|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R102H|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R115H	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	115					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)				CCAGCAGGTACGTGCCATCTG	0.299																																					p.R115H		.											.	ELOVL7-90	0			c.G344A						.						92	90	91					5																	60062450		2203	4300	6503	SO:0001583	missense	79993	exon5			CAGGTACGTGCCA	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.344G>A	5.37:g.60062450C>T	ENSP00000424123:p.Arg115His	Somatic	221	1		WXS	Illumina GAIIx	Phase_I	240	103	NM_001104558	0	0	0	0	0	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	c	7.172	0.587772	0.13812	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.44	1.11	0.20524	.	0.591186	0.18851	N	0.129412	T	0.16981	0.0408	L	0.43923	1.385	0.19300	N	0.99998	B;B	0.22746	0.074;0.03	B;B	0.24269	0.052;0.032	T	0.20338	-1.0278	10	0.32370	T	0.25	-0.1257	10.0174	0.42022	0.0:0.7177:0.0:0.2823	.	102;115	D6RHD0;A1L3X0	.;ELOV7_HUMAN	H	115;115;115;102;115;115	ENSP00000424123:R115H;ENSP00000411255:R115H;ENSP00000402634:R115H;ENSP00000421043:R102H;ENSP00000426400:R115H;ENSP00000424081:R115H	ENSP00000402634:R115H	R	-	2	0	ELOVL7	60098207	0.032000	0.19561	0.165000	0.22776	0.022000	0.10575	0.397000	0.20883	0.011000	0.14865	-0.127000	0.14921	CGT	.		0.299	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60062450	C	T	60062450	3	4	5	1	0	0	0	0	1	0	0	0	5095	536	19	1	517	1	ELOVL7	5	60062450	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3872957	60062450	120852810	134	595											
ELOVL7	79993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	60067887	60067887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatggtttgtggcagaggcGaggacatgaggagccaatct	17	6	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:60067887G>A	ENST00000508821.1	-	4	412	c.98C>T	c.(97-99)tCg>tTg	p.S33L	ELOVL7_ENST00000438340.1_Missense_Mutation_p.S33L|ELOVL7_ENST00000505959.1_Missense_Mutation_p.S20L|ELOVL7_ENST00000425382.1_Missense_Mutation_p.S33L	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	33					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)				TGGCAGAGGCGAGGACATGAG	0.438																																					p.S33L		.											.	ELOVL7-90	0			c.C98T						.						53	49	51					5																	60067887		2203	4300	6503	SO:0001583	missense	79993	exon3			AGAGGCGAGGACA	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.98C>T	5.37:g.60067887G>A	ENSP00000424123:p.Ser33Leu	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	262	56	NM_001104558	0	0	2	2	0	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887628	0.91814	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.86	5.86	0.93980	.	0.193306	0.46145	D	0.000301	T	0.66954	0.2842	H	0.98178	4.165	0.58432	D	0.999996	D;D	0.63880	0.993;0.993	P;P	0.60173	0.87;0.87	T	0.79303	-0.1859	10	0.87932	D	0	-7.9158	20.5632	0.99335	0.0:0.0:1.0:0.0	.	20;33	D6RHD0;A1L3X0	.;ELOV7_HUMAN	L	33;33;33;20;33;33	ENSP00000424123:S33L;ENSP00000411255:S33L;ENSP00000402634:S33L;ENSP00000421043:S20L;ENSP00000426400:S33L;ENSP00000424081:S33L	ENSP00000402634:S33L	S	-	2	0	ELOVL7	60103644	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	TCG	.		0.438	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			A	60067887	G	A	60067887	3	1	5	1	0	0	0	0	1	0	0	0	5095	1059	37	1	771	1	ELOVL7	5	60067887	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5437	60067887	120847373	135	596											
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	65118697	65118697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatttcttgaaacgtgagcCaaaccaaaaagcgttcctaa	6	10	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:65118697C>A	ENST00000380985.5	+	13	2247	c.2069C>A	c.(2068-2070)cCa>cAa	p.P690Q	NLN_ENST00000502464.1_Missense_Mutation_p.P586Q|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	690						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAACGTGAGCCAAACCAAAAA	0.468																																					p.P690Q		.											.	NLN-90	0			c.C2069A						.						171	158	162					5																	65118697		2203	4300	6503	SO:0001583	missense	57486	exon13			GTGAGCCAAACCA	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2069C>A	5.37:g.65118697C>A	ENSP00000370372:p.Pro690Gln	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	168	41	NM_020726	0	0	1	1	0	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361496	0.82353	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.09723	2.95;2.95;2.95	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61729	-0.7003	10	0.87932	D	0	-12.0797	19.9598	0.97242	0.0:1.0:0.0:0.0	.	367;690	Q96K48;Q9BYT8	.;NEUL_HUMAN	Q	690;586;400	ENSP00000370372:P690Q;ENSP00000423214:P586Q;ENSP00000427417:P400Q	ENSP00000370372:P690Q	P	+	2	0	NLN	65154453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.424000	0.73366	2.716000	0.92895	0.655000	0.94253	CCA	.		0.468	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			A	65118697	C	A	65118697	3	1	5	1	0	0	0	0	1	0	0	0	10506	594	21	3	2119	3	NLN	5	65118697	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5050810	65118697	115796563	136	597											
GFM2	84340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaactgggatcttcacGctgaagacatttcaacgcat	7	10	4	2	rs139234343	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:74028894G>A	ENST00000296805.3	-	16	1997	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	GFM2_ENST00000345239.2_Missense_Mutation_p.R467C|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.R514C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													G|||	2	0.000399361	8e-04	0	5008	,	,		14113	0		0.001	False		,,,				2504	0				p.R514C		.											.	GFM2-90	0			c.C1540T						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	117	119		1540,1399	5.1	1	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	514/780,467/733	74028894	1,13005	2203	4300	6503	SO:0001583	missense	84340	exon16			CTTCACGCTGAAG	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1540C>T	5.37:g.74028894G>A	ENSP00000296805:p.Arg514Cys	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	97	18	NM_032380	0	0	11	12	1		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076829	0.76415	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.73469	-0.75;-0.75;-0.75	5.07	5.07	0.68467	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.962	D	0.89490	0.3756	10	0.87932	D	0	-11.3993	18.4471	0.90688	0.0:0.0:1.0:0.0	.	514;467;514	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	514;467;514;514	ENSP00000296805:R514C;ENSP00000296804:R467C;ENSP00000427004:R514C	ENSP00000296805:R514C	R	-	1	0	GFM2	74064650	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.769000	0.68865	2.357000	0.79964	0.557000	0.71058	CGT	G|1.000;A|0.000		0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		A	74028894	G	A	74028894	3	1	5	1	0	0	0	0	1	0	0	0	6368	1087	38	1	823	1	GFM2	5	74028894	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	8910197	74028894	106886366	137	598											
THBS4	7060	hgsc.bcm.edu	37	chr5	79331430	79331430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggtggctagcggcaggcGcccaggccaccccccagggt	16	16	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:79331430G>A	ENST00000350881.2	+	1	260	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	THBS4_ENST00000511733.1_5'Flank	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	24					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCGGCAGGCGCCCAGGCCAC	0.741																																					p.A24T		.											.	THBS4-90	0			c.G70A						.						3	4	4					5																	79331430		1717	3603	5320	SO:0001583	missense	7060	exon1			GCAGGCGCCCAGG		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.70G>A	5.37:g.79331430G>A	ENSP00000339730:p.Ala24Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_003248	0	0	0	0	0	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.458198	0.84317	.	.	ENSG00000113296	ENST00000350881	D	0.86497	-2.13	4.05	4.05	0.47172	Laminin G, thrombospondin-type, N-terminal (1);	0.350046	0.28834	N	0.013983	D	0.90858	0.7128	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.89373	0.3676	10	0.35671	T	0.21	-28.7735	11.8943	0.52648	0.0:0.0:1.0:0.0	.	24	P35443	TSP4_HUMAN	T	24	ENSP00000339730:A24T	ENSP00000339730:A24T	A	+	1	0	THBS4	79367186	0.801000	0.28930	0.938000	0.37757	0.943000	0.58893	1.014000	0.29950	2.226000	0.72624	0.558000	0.71614	GCC	.		0.741	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			A	79331430	G	A	79331430	3	1	5	1	0	0	0	0	1	0	0	0	15903	1087	38	1	72	1	THBS4	5	79331430	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5302536	79331430	101583830	138	599											
SERINC5	256987	broad.mit.edu	37	chr5	79473787	79473787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagataaagaagaaacaagCcattccaaaacagactctat	6	8	1	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:79473787C>T	ENST00000507668.2	-	3	445	c.295G>A	c.(295-297)Gct>Act	p.A99T	SERINC5_ENST00000512721.1_Missense_Mutation_p.A99T|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Missense_Mutation_p.A99T|SERINC5_ENST00000509193.1_Missense_Mutation_p.A99T	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	99					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AAGAAACAAGCCATTCCAAAA	0.378																																					p.A99T		.											.	SERINC5-1	0			c.G295A						.						75	77	76					5																	79473787		1873	4114	5987	SO:0001583	missense	256987	exon3			AACAAGCCATTCC	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.295G>A	5.37:g.79473787C>T	ENSP00000426237:p.Ala99Thr	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	151	5	NM_001174071	0	0	11	11	0	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826317	0.90955	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.48	5.48	0.80851	.	0.054147	0.64402	D	0.000001	T	0.42921	0.1224	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.76494	0.999;0.959;0.999;0.999	D;P;D;D	0.71414	0.973;0.835;0.973;0.973	T	0.12218	-1.0556	10	0.41790	T	0.15	.	19.363	0.94448	0.0:1.0:0.0:0.0	.	99;99;99;99	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	T	99;98;99;99;99	ENSP00000426237:A99T;ENSP00000426134:A99T;ENSP00000421665:A99T;ENSP00000420863:A99T	ENSP00000327542:A98T	A	-	1	0	SERINC5	79509543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.826000	0.55738	2.584000	0.87258	0.563000	0.77884	GCT	.		0.378	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		T	79473787	C	T	79473787	3	4	5	1	0	0	0	0	1	0	0	0	14128	739	26	3	1168	3	SERINC5	5	79473787	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	142357	79473787	101441473	139	600											
NR2F1	7025	bcgsc.ca	37	chr5	92924033	92924033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgtctgccgaccgcGtcgtggccttcatggaccac	11	17	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:92924033G>A	ENST00000327111.3	+	2	2561	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	292					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCCGACCGCGTCGTGGCCTT	0.652																																					p.V292I		.											.	NR2F1-227	0			c.G874A						.						36	37	37					5																	92924033		2203	4300	6503	SO:0001583	missense	7025	exon2			GACCGCGTCGTGG	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.874G>A	5.37:g.92924033G>A	ENSP00000325819:p.Val292Ile	Somatic	53	2		WXS	Illumina GAIIx	Phase_I	207	101	NM_005654	0	0	0	2	2		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112321	0.94339	.	.	ENSG00000175745	ENST00000327111	D	0.96200	-3.94	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.068934	0.56097	D	0.000025	D	0.95784	0.8628	L	0.52126	1.63	0.80722	D	1	D	0.61080	0.989	P	0.56088	0.791	D	0.95944	0.8949	10	0.54805	T	0.06	.	16.543	0.84407	0.0:0.0:1.0:0.0	.	292	P10589	COT1_HUMAN	I	292	ENSP00000325819:V292I	ENSP00000325819:V292I	V	+	1	0	NR2F1	92949789	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.688000	0.84153	2.205000	0.71048	0.313000	0.20887	GTC	.		0.652	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		A	92924033	G	A	92924033	3	1	5	1	0	0	0	0	1	0	0	0	10666	1145	40	1	880	1	NR2F1	5	92924033	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13450246	92924033	87991227	140	601											
FNIP1	96459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	131014837	131014837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacaggttctccaattcGtggcatcgtgtaaagattac	9	10	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:131014837G>A	ENST00000510461.1	-	12	1329	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	FNIP1_ENST00000511848.1_Nonsense_Mutation_p.R412*|FNIP1_ENST00000307968.7_Nonsense_Mutation_p.R384*|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.R367*|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	412					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCCAATTCGTGGCATCGTG	0.358																																					p.R412X		.											.	FNIP1-92	0			c.C1234T						.						80	75	77					5																	131014837		2203	4300	6503	SO:0001587	stop_gained	96459	exon12			CAATTCGTGGCAT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1234C>T	5.37:g.131014837G>A	ENSP00000421985:p.Arg412*	Somatic	327	0		WXS	Illumina GAIIx	Phase_I	413	220	NM_133372	0	0	0	0	0	D6RJH5|Q86T47|Q9BUT0	Nonsense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963024	0.92791	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	.	.	.	5.06	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9554	12.6228	0.56614	0.0:0.0:0.6889:0.3111	.	.	.	.	X	384;367;172;412;412	.	ENSP00000310453:R367X	R	-	1	2	FNIP1	131042736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.057000	0.57455	1.205000	0.43262	0.655000	0.94253	CGA	.		0.358	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		A	131014837	G	A	131014837	4	1	5	1	0	0	0	0	0	1	0	0	5997	1153	40	1	2294	1	FNIP1	5	131014837	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	38090804	131014837	49900423	141	602											
RAD50	10111	hgsc.bcm.edu	37	chr5	131931451	131931452	+	Frame_Shift_Ins	INS	-	-	A													aagtcaacagaatcagagctINSaaaaaaaaaggaaaagcggc					rs587781454		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:131931451_131931452insA	ENST00000265335.6	+	13	2543_2544	c.2156_2157insA	c.(2155-2160)ctaaaafs	p.LK719fs	RAD50_ENST00000378823.3_Frame_Shift_Ins_p.LK580fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	719	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)	p.L580L(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)			GAATCAGAGCTAAAAAAAAAGG	0.416								Homologous recombination																													p.L719fs		.											.	RAD50-229	1	Substitution - coding silent(1)	breast(1)	c.2156_2157insA						.			1,4261		0,1,2130						6.1	1			67	3,8251		0,3,4124	no	frameshift	RAD50	NM_005732.3		0,4,6254	A1A1,A1R,RR		0.0363,0.0235,0.032				4,12512				SO:0001589	frameshift_variant	10111	exon13			CAGAGCTAAAAAA	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.2165dupA	5.37:g.131931460_131931460dupA	ENSP00000265335:p.Leu719fs	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	67	16	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Ins	INS	ENST00000265335.6	37	CCDS34233.1																																																																																			.		0.416	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		A	131931452	-	A	131931451	7	5	5	1	0	1	1	0	0	0	0	0	13029	1522	53	0	2206	0	RAD50	5	131931451	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	916614	131931451	48983809	142	603											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	5	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	218233	132149684	48765576	143	604											
PHF15	23338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	133896521	133896521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatatggccagggccatTgagacgcaggaggggctggg	18	8	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:133896521T>C	ENST00000402835.1	+	6	813	c.558T>C	c.(556-558)atT>atC	p.I186I	PHF15_ENST00000282605.4_Silent_p.I186I|PHF15_ENST00000395003.1_Silent_p.I186I|PHF15_ENST00000361895.2_Silent_p.I186I																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)			CCAGGGCCATTGAGACGCAGG	0.607																																					p.I186I		.											.	PHF15-90	0			c.T558C						.						142	111	122					5																	133896521		2203	4300	6503	SO:0001819	synonymous_variant	23338	exon6			GGCCATTGAGACG																												ENST00000402835.1:c.558T>C	5.37:g.133896521T>C		Somatic	283	0		WXS	Illumina GAIIx	Phase_I	437	60	NM_015288	0	0	4	4	0		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.607	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			C	133896521	T	C	133896521	2	2	5	1	0	0	0	0	0	0	0	1	11865	1800	63	4		4	PHF15	5	133896521	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1746837	133896521	47018739	144	605											
PHF15	23338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	133896569	133896569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgacgaggatgttgtctgCgacgtgtgtcgctctcctga	13	10	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:133896569C>T	ENST00000402835.1	+	6	861	c.606C>T	c.(604-606)tgC>tgT	p.C202C	PHF15_ENST00000282605.4_Silent_p.C202C|PHF15_ENST00000395003.1_Silent_p.C202C|PHF15_ENST00000361895.2_Silent_p.C202C														p.C202C(1)		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)			ATGTTGTCTGCGACGTGTGTC	0.607																																					p.C202C		.											.	PHF15-90	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T						.						238	183	201					5																	133896569		2203	4300	6503	SO:0001819	synonymous_variant	23338	exon6			TGTCTGCGACGTG																												ENST00000402835.1:c.606C>T	5.37:g.133896569C>T		Somatic	314	0		WXS	Illumina GAIIx	Phase_I	491	248	NM_015288	0	0	2	12	10		Silent	SNP	ENST00000402835.1	37																																																																																				.		0.607	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			T	133896569	C	T	133896569	2	4	5	1	0	0	0	0	0	0	0	1	11865	776	27	1		1	PHF15	5	133896569	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	48	133896569	47018691	145	606											
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	135692634	135692634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggcatagaagtcgtcgtCgcgcagctcctgttccagcg	13	12	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:135692634C>T	ENST00000513104.1	-	2	724	c.442G>A	c.(442-444)Gac>Aac	p.D148N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D148N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D148N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	148					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)			AAGTCGTCGTCGCGCAGCTCC	0.652																																					p.D148N		.											.	.	0			c.G442A						.						95	103	100					5																	135692634		2202	4299	6501	SO:0001583	missense	57113	exon2			CGTCGTCGCGCAG	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.442G>A	5.37:g.135692634C>T	ENSP00000426070:p.Asp148Asn	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	162	79	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.51|11.51	1.659035|1.659035	0.29515|0.29515	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|T;T;T	0.78246|0.77620	-1.0;-1.16;-1.09|-1.03;-0.87;-1.11	5.27|5.27	4.41|4.41	0.53225|0.53225	Ankyrin repeat-containing domain (2);|.	0.044917|.	0.85682|.	D|.	0.000000|.	T|T	0.61009|0.61009	0.2313|0.2313	N|N	0.25890|0.25890	0.77|0.77	0.27221|0.27221	N|N	0.959663|0.959663	B;B;B;B|.	0.28082|.	0.001;0.194;0.046;0.2|.	B;B;B;B|.	0.28553|.	0.001;0.04;0.028;0.091|.	T|T	0.50013|0.50013	-0.8877|-0.8877	10|7	0.39692|0.02654	T|T	0.17|1	-27.9109|-27.9109	9.4573|9.4573	0.38762|0.38762	0.0:0.782:0.1434:0.0746|0.0:0.782:0.1434:0.0746	.|.	148;148;148;148|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	N|Q	148|147	ENSP00000347312:D148N;ENSP00000441628:D148N;ENSP00000426070:D148N|ENSP00000330322:R147Q;ENSP00000367720:R147Q;ENSP00000424854:R147Q	ENSP00000265193:D148N|ENSP00000330322:R147Q	D|R	-|-	1|2	0|0	TRPC7|TRPC7	135720533|135720533	1.000000|1.000000	0.71417|0.71417	0.303000|0.303000	0.25071|0.25071	0.339000|0.339000	0.28857|0.28857	4.744000|4.744000	0.62118|0.62118	1.454000|1.454000	0.47793|0.47793	0.655000|0.655000	0.94253|0.94253	GAC|CGA	.		0.652	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135692634	C	T	135692634	3	4	5	1	0	0	0	0	1	0	0	0	16632	884	31	1	2190	1	TRPC7	5	135692634	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1796065	135692634	45222626	146	607											
SIL1	64374	broad.mit.edu	37	chr5	138282960	138282960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggtcctgacggtagCggtcccggcaggtggtcagg	20	10	1	1	rs192255604		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:138282960C>T	ENST00000394817.2	-	10	1371	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SIL1_ENST00000265195.5_Missense_Mutation_p.R411H|SIL1_ENST00000509534.1_Missense_Mutation_p.R418H|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	411					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACGGTAGCGGTCCCGGCA	0.682									Marinesco-Sjgren syndrome				C|||	1	0.000199681	0	0.0014	5008	,	,		19060	0		0	False		,,,				2504	0				p.R411H		.											.	SIL1-90	0			c.G1232A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44	40	41		1232,1232	-9.5	0.6	5		41	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	SIL1	NM_001037633.1,NM_022464.4	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	411/462,411/462	138282960	1,13003	2203	4299	6502	SO:0001583	missense	64374	exon11	Familial Cancer Database	Marinesco-Sjogren syndrome	CGGTAGCGGTCCC	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1232G>A	5.37:g.138282960C>T	ENSP00000378294:p.Arg411His	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	319	9	NM_001037633	0	0	213	219	6	D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.388	1.074738	0.20227	0.0	1.16E-4	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.52057	0.68;0.68;0.68	4.75	-9.5	0.00584	Armadillo-type fold (1);	0.801389	0.12111	N	0.498576	T	0.28067	0.0692	L	0.41236	1.265	0.24605	N	0.993756	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.10870	-1.0611	10	0.37606	T	0.19	0.1272	7.4986	0.27505	0.0887:0.583:0.0891:0.2392	.	418;411	D6REA1;Q9H173	.;SIL1_HUMAN	H	411;411;418	ENSP00000378294:R411H;ENSP00000265195:R411H;ENSP00000426858:R418H	ENSP00000265195:R411H	R	-	2	0	SIL1	138310859	0.382000	0.25148	0.600000	0.28864	0.378000	0.30076	-0.574000	0.05868	-1.461000	0.01909	-1.587000	0.00848	CGC	C|0.999;T|0.000		0.682	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		T	138282960	C	T	138282960	3	4	5	1	0	0	0	0	1	0	0	0	14366	768	27	1	157	1	SIL1	5	138282960	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2590326	138282960	42632300	147	608											
TMEM173	340061	ucsc.edu;bcgsc.ca	37	chr5	138861257	138861257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgtgacccctgggacaCgggatggatggatgcaggct	16	12	0	1	rs149842998	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:138861257C>T	ENST00000330794.4	-	3	366	c.33G>A	c.(31-33)ccG>ccA	p.P11P	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	11					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCTGGGACACGGGATGGATG	0.627													C|||	25	0.00499201	8e-04	0	5008	,	,		19729	0		0.001	False		,,,				2504	0.0235				p.P11P		.											.	TMEM173-69	0			c.G33A						.	C		1,4403		0,1,2201	31	32	32		33	-7.5	0	5	dbSNP_134	32	10,8590		0,10,4290	no	coding-synonymous	TMEM173	NM_198282.2		0,11,6491	TT,TC,CC		0.1163,0.0227,0.0846		11/380	138861257	11,12993	2202	4300	6502	SO:0001819	synonymous_variant	340061	exon3			GGGACACGGGATG		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.33G>A	5.37:g.138861257C>T		Somatic	278	3		WXS	Illumina GAIIx	Phase_I	450	242	NM_198282	0	0	0	0	0	A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Silent	SNP	ENST00000330794.4	37	CCDS4215.1																																																																																			C|0.999;T|0.001		0.627	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		T	138861257	C	T	138861257	2	4	5	1	0	0	0	0	0	0	0	1	16136	523	19	1		1	TMEM173	5	138861257	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	578297	138861257	42054003	148	609											
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140181912	140181912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatcagcgtgtccgaccGcgactcaggagtcaatggac	12	12	4	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140181912G>A	ENST00000522353.2	+	1	1130	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R377H|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	377	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(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCCGACCGCGACTCAGGA	0.488																																					p.R377H		.											.	PCDHA3-98	0			c.G1130A						.						122	115	117					5																	140181912		2203	4300	6503	SO:0001583	missense	56145	exon1			CCGACCGCGACTC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1130G>A	5.37:g.140181912G>A	ENSP00000429808:p.Arg377His	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	451	97	NM_031497	0	0	1	1	0	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	4.015	0.000090	0.07819	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52754	0.65;0.65	4.79	-1.77	0.07982	Cadherin (4);Cadherin-like (1);	1.122770	0.07054	N	0.832419	T	0.54175	0.1842	M	0.71581	2.175	0.09310	N	1	P;P	0.38440	0.631;0.546	B;P	0.49332	0.136;0.607	T	0.53472	-0.8434	10	0.62326	D	0.03	.	4.1649	0.10301	0.2193:0.0:0.3853:0.3954	.	377;377	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	377	ENSP00000429808:R377H;ENSP00000434086:R377H	ENSP00000429808:R377H	R	+	2	0	PCDHA3	140162096	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.750000	0.04808	-0.668000	0.05296	-0.518000	0.04402	CGC	.		0.488	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140181912	G	A	140181912	3	1	5	1	0	0	0	0	1	0	0	0	11564	1087	38	1	1132	1	PCDHA3	5	140181912	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1320655	140181912	40733348	149	610											
PCDHA7	56141	broad.mit.edu;bcgsc.ca	37	chr5	140214422	140214422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgcttgactctcggTttccactagagggcgcgtcc	12	15	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140214422T>C	ENST00000525929.1	+	1	454	c.454T>C	c.(454-456)Ttt>Ctt	p.F152L	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F152L|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTCGGTTTCCACTAGA	0.557																																					p.F152L	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.T454C						.						47	46	46					5																	140214422		2203	4292	6495	SO:0001583	missense	56141	exon1			TCTCGGTTTCCAC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.454T>C	5.37:g.140214422T>C	ENSP00000436426:p.Phe152Leu	Somatic	517	0		WXS	Illumina GAIIx	Phase_I	782	26	NM_031852	0	0	0	0	0	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039774	0.55003	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.47177	0.85;0.85	4.17	3.0	0.34707	Cadherin (3);Cadherin-like (1);	0.262657	0.19388	N	0.115497	T	0.63850	0.2546	M	0.82056	2.57	0.29860	N	0.827694	P;P	0.40266	0.71;0.572	P;P	0.55577	0.459;0.779	T	0.63225	-0.6685	10	0.72032	D	0.01	.	9.39	0.38367	0.0:0.0862:0.0:0.9138	.	152;152	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	152	ENSP00000436426:F152L;ENSP00000367365:F152L	ENSP00000367365:F152L	F	+	1	0	PCDHA7	140194606	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	4.113000	0.57851	0.583000	0.29574	0.374000	0.22700	TTT	.		0.557	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		C	140214422	T	C	140214422	3	2	5	1	0	0	0	0	1	0	0	0	11568	1725	60	4	456	4	PCDHA7	5	140214422	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	32510	140214422	40700838	150	611											
PCDHA13	56136	hgsc.bcm.edu	37	chr5	140263870	140263870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtcgctggtggagagcGgccaagcgccacaggcttcg	16	11	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140263870G>A	ENST00000289272.2	+	1	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G673S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAAGCGCC	0.662																																					p.G673S	Melanoma(147;1739 1852 5500 27947 37288)	.											.	PCDHA13-75	0			c.G2017A						.						55	51	52					5																	140263870		2203	4299	6502	SO:0001583	missense	56136	exon1			GAGAGCGGCCAAG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2017G>A	5.37:g.140263870G>A	ENSP00000289272:p.Gly673Ser	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	129	31	NM_031865	0	0	0	0	0	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049978	0.07407	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.48201	0.82;0.89	4.08	3.21	0.36854	Cadherin (2);	.	.	.	.	T	0.28366	0.0701	N	0.17872	0.535	0.09310	N	1	B;B;B	0.32693	0.181;0.38;0.276	B;B;B	0.29524	0.014;0.014;0.103	T	0.11131	-1.0600	9	0.14252	T	0.57	.	9.8181	0.40865	0.0974:0.0:0.9026:0.0	.	673;673;673	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	673	ENSP00000386821:G673S;ENSP00000289272:G673S	ENSP00000289272:G673S	G	+	1	0	PCDHA13	140244054	0.872000	0.30054	0.877000	0.34402	0.026000	0.11368	0.000000	0.12993	0.915000	0.36847	-0.140000	0.14226	GGC	.		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140263870	G	A	140263870	3	1	5	1	0	0	0	0	1	0	0	0	11562	1116	39	1	2019	1	PCDHA13	5	140263870	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	49448	140263870	40651390	151	612											
PCDHB5	26167	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140515676	140515676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggacggtggggctccGcccaggtccgggaccaccac	15	16	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140515676G>A	ENST00000231134.5	+	1	877	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GTGGGGCTCCGCCCAGGTCCG	0.552																																					p.P220P		.											.	PCDHB5-95	0			c.G660A						.						80	89	86					5																	140515676		2203	4300	6503	SO:0001819	synonymous_variant	26167	exon1			GGCTCCGCCCAGG	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.660G>A	5.37:g.140515676G>A		Somatic	112	2		WXS	Illumina GAIIx	Phase_I	201	56	NM_015669	0	0	1	1	0	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																			.		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140515676	G	A	140515676	2	1	5	1	0	0	0	0	0	0	0	1	11584	1074	38	1		1	PCDHB5	5	140515676	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	251806	140515676	40399584	152	613											
PCDHB12	56124	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140589396	140589396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacattactttaacagcacCtttggattttgaagcaattg	7	7	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140589396C>A	ENST00000239450.2	+	1	1106	c.917C>A	c.(916-918)cCt>cAt	p.P306H	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAACAGCACCTTTGGATTTT	0.373																																					p.P306H		.											.	PCDHB12-93	0			c.C917A						.						66	70	69					5																	140589396		2203	4300	6503	SO:0001583	missense	56124	exon1			CAGCACCTTTGGA	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.917C>A	5.37:g.140589396C>A	ENSP00000239450:p.Pro306His	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	92	19	NM_018932	0	0	0	1	1	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.986813	0.00443	.	.	ENSG00000120328	ENST00000239450	T	0.01745	4.66	4.06	-1.91	0.07641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	L	0.39085	1.19	0.09310	N	0.999998	P	0.38617	0.64	P	0.48598	0.583	T	0.44314	-0.9336	9	0.42905	T	0.14	.	0.965	0.01403	0.4541:0.2067:0.1162:0.2229	.	306	Q9Y5F1	PCDBC_HUMAN	H	306	ENSP00000239450:P306H	ENSP00000239450:P306H	P	+	2	0	PCDHB12	140569580	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.977000	0.01495	-0.075000	0.12798	0.491000	0.48974	CCT	.		0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		A	140589396	C	A	140589396	3	1	5	1	0	0	0	0	1	0	0	0	11576	681	24	3	919	3	PCDHB12	5	140589396	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	73720	140589396	40325864	153	614											
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595625	140595625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaggctggtggtgctgGtcaaggacaatggcgagcct	16	9	1	0	rs2910005	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140595625G>A	ENST00000341948.4	+	1	2117	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711													G|||	602	0.120208	0.1036	0.0937	5008	,	,		15211	0.0933		0.1421	False		,,,				2504	0.1667				p.V644I		.											.	PCDHB13-93	0			c.G1930A						.						13	15	14					5																	140595625		1563	3249	4812	SO:0001583	missense	56123	exon1			GTGCTGGTCAAGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1930G>A	5.37:g.140595625G>A	ENSP00000345491:p.Val644Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	14	NM_018933	0	0	41	46	5	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	263	0.12042124542124542	52	0.10569105691056911	43	0.11878453038674033	53	0.09265734265734266	115	0.1517150395778364	-	23.4	4.405720	0.83230	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.23552	1.9	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00300	0.0009	M	0.63843	1.955	0.27033	P	0.9641952	D	0.71674	0.998	D	0.63283	0.913	T	0.09314	-1.0680	8	0.72032	D	0.01	.	14.5914	0.68368	0.0:0.0:1.0:0.0	rs2910005	644	Q9Y5F0	PCDBD_HUMAN	I	644;644;590	ENSP00000345491:V644I	ENSP00000345491:V644I	V	+	1	0	PCDHB13	140575809	1.000000	0.71417	0.701000	0.30321	0.791000	0.44710	9.501000	0.97979	1.576000	0.49790	0.298000	0.19748	GTC	G|0.500;A|0.500		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140595625	G	A	140595625	3	1	5	1	0	0	0	0	1	0	0	0	11577	1261	44	3	1932	3	PCDHB13	5	140595625	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6229	140595625	40319635	154	615											
PCDHGC4	56098	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	140865109	140865109	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccgagcagaggtagagatCgtagatgtgaatgatcacgc	13	7	1	5			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:140865109C>T	ENST00000306593.1	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGAGATCGTAGATGTGA	0.577																																					p.I123I		.											.	PCDHGC4-72	0			c.C369T						.						86	85	85					5																	140865109		2203	4300	6503	SO:0001819	synonymous_variant	56098	exon1			AGAGATCGTAGAT	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.369C>T	5.37:g.140865109C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	167	10	NM_018928	0	0	0	0	0	Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																			.		0.577	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		T	140865109	C	T	140865109	2	4	5	1	0	0	0	0	0	0	0	1	11609	874	31	1		1	PCDHGC4	5	140865109	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	269484	140865109	40050151	155	616											
ARAP3	64411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	141051181	141051181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgagggtggggcttccGgaagagacccagacggtact	16	9	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:141051181G>A	ENST00000239440.4	-	12	1875	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R266W|ARAP3_ENST00000508305.1_Missense_Mutation_p.R526W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	604	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						TGGGGCTTCCGGAAGAGACCC	0.627																																					p.R604W		.											.	ARAP3-291	0			c.C1810T						.						36	37	37					5																	141051181		2203	4300	6503	SO:0001583	missense	64411	exon12			GCTTCCGGAAGAG	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.1810C>T	5.37:g.141051181G>A	ENSP00000239440:p.Arg604Trp	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	195	86	NM_022481	0	0	1	1	0	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508727	0.64410	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.43688	0.94;0.94;0.94	3.44	3.44	0.39384	.	0.000000	0.64402	U	0.000006	T	0.57961	0.2089	M	0.75264	2.295	0.41117	D	0.985789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.995	T	0.61237	-0.7103	10	0.87932	D	0	.	5.3419	0.15988	0.1089:0.0:0.688:0.2031	.	266;526;604	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	526;604;266	ENSP00000421826:R526W;ENSP00000239440:R604W;ENSP00000421468:R266W	ENSP00000239440:R604W	R	-	1	2	ARAP3	141031365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.270000	0.58896	1.754000	0.51921	0.563000	0.77884	CGG	.		0.627	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141051181	G	A	141051181	3	1	5	1	0	0	0	0	1	0	0	0	840	1115	39	1	2912	1	ARAP3	5	141051181	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	186072	141051181	39864079	156	617											
SCGB3A2	117156	bcgsc.ca	37	chr5	147261610	147261610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgctatcacacttggtGtgacatcaagataaagagcg	12	8	2	3	rs34212847	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:147261610G>A	ENST00000296694.4	+	3	372	c.279G>A	c.(277-279)gtG>gtA	p.V93V	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_Silent_p.V48V	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	93						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACTTGGTGTGACATCAAG	0.428													G|||	194	0.038738	0.059	0.0101	5008	,	,		18878	0.0625		0.004	False		,,,				2504	0.0429				p.V93V		.											.	SCGB3A2-153	0			c.G279A						.	G		194,4212	121.3+/-158.8	8,178,2017	126	115	119		279	0.5	0.9	5	dbSNP_126	119	33,8567	24.0+/-70.4	0,33,4267	no	coding-synonymous	SCGB3A2	NM_054023.4		8,211,6284	AA,AG,GG		0.3837,4.4031,1.7453		93/94	147261610	227,12779	2203	4300	6503	SO:0001819	synonymous_variant	117156	exon3			CTTGGTGTGACAT	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"Secretoglobins"	18391	protein-coding gene	gene with protein product	"uteroglobin-related protein 1", "pneumo secretory protein 1", "uteroglobin related protein 1"	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.279G>A	5.37:g.147261610G>A		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	212	8	NM_054023	0	0	0	0	0		Silent	SNP	ENST00000296694.4	37	CCDS4287.1																																																																																			G|0.980;A|0.020		0.428	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023		A	147261610	G	A	147261610	2	1	5	1	0	0	0	0	0	0	0	1	13946	1364	48	3		3	SCGB3A2	5	147261610	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6210429	147261610	33653650	157	618											
CSF1R	1436	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	149435889	149435889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgttacgcgctgccaCgtcccggtggatgcactgag	13	14	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:149435889C>T	ENST00000286301.3	-	18	2626	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in HDLS). {ECO:0000269|PubMed:22197934}.		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)	CGCGCTGCCACGTCCCGGTGG	0.572																																					p.V779M		.											.	CSF1R-2640	0			c.G2335A						.						103	92	96					5																	149435889		2203	4300	6503	SO:0001583	missense	1436	exon18			CTGCCACGTCCCG	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.2335G>A	5.37:g.149435889C>T	ENSP00000286301:p.Val779Met	Somatic	227	2		WXS	Illumina GAIIx	Phase_I	416	114	NM_005211	0	0	0	0	0	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439311	0.43326	.	.	ENSG00000182578	ENST00000286301	D	0.89939	-2.59	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.142496	0.31922	N	0.006844	D	0.90642	0.7065	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90315	0.4340	10	0.59425	D	0.04	.	10.3613	0.43996	0.1336:0.6599:0.2065:0.0	.	779	P07333	CSF1R_HUMAN	M	779	ENSP00000286301:V779M	ENSP00000286301:V779M	V	-	1	0	CSF1R	149416082	0.980000	0.34600	0.993000	0.49108	0.250000	0.25880	2.559000	0.45888	2.543000	0.85770	0.462000	0.41574	GTG	.		0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		T	149435889	C	T	149435889	3	4	5	1	0	0	0	0	1	0	0	0	3941	536	19	1	603	1	CSF1R	5	149435889	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2174279	149435889	31479371	158	619											
C1QTNF2	114898	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	159781908	159781908	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggccctgggggccaggcagGctgcagaccagttgagggga	20	10	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:159781908G>C	ENST00000393975.3	-	2	249	c.246C>G	c.(244-246)agC>agG	p.S82R		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	37	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCAGGCAGGCTGCAGACCA	0.677																																					p.S82R		.											.	C1QTNF2-91	0			c.C246G						.						15	17	17					5																	159781908		2201	4298	6499	SO:0001583	missense	114898	exon2			AGGCAGGCTGCAG	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.246C>G	5.37:g.159781908G>C	ENSP00000377545:p.Ser82Arg	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	33	27	NM_031908	0	0	0	0	0		Missense_Mutation	SNP	ENST00000393975.3	37	CCDS4351.2	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597773	0.28445	.	.	ENSG00000145861	ENST00000393975	D	0.91351	-2.83	5.01	2.24	0.28232	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.36672	1.1	0.46774	D	0.999199	D	0.76494	0.999	D	0.80764	0.994	D	0.88909	0.3358	10	0.87932	D	0	.	8.493	0.33110	0.3895:0.0:0.6105:0.0	.	37	Q9BXJ5	C1QT2_HUMAN	R	82	ENSP00000377545:S82R	ENSP00000377545:S82R	S	-	3	2	C1QTNF2	159714486	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	1.371000	0.34250	0.147000	0.19030	-0.657000	0.03884	AGC	.		0.677	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			C	159781908	G	C	159781908	3	2	5	1	0	0	0	0	1	0	0	0	1970	1194	42	3	754	3	C1QTNF2	5	159781908	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10346019	159781908	21133352	159	620											
NUDCD2	134492	hgsc.bcm.edu	37	chr5	162886888	162886888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggatctcgcggccgcCcaccgacagcgccacatgcc	11	18	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:162886888C>T	ENST00000302764.4	-	1	258	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	HMMR_ENST00000358715.3_5'Flank|NUDCD2_ENST00000519395.1_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.G57S|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000353866.3_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	57	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCGCGGCCGCCCACCGACAGC	0.647																																					p.G57S		.											.	NUDCD2-90	0			c.G169A						.						31	41	38					5																	162886888		2200	4293	6493	SO:0001583	missense	134492	exon1			GGCCGCCCACCGA	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.169G>A	5.37:g.162886888C>T	ENSP00000304854:p.Gly57Ser	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	99	10	NM_145266	0	0	4	4	0	B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510716	0.44660	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.12984	2.63;2.63	5.86	3.99	0.46301	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.220156	0.45361	D	0.000377	T	0.06781	0.0173	N	0.11756	0.17	0.31248	N	0.694363	B	0.02656	0.0	B	0.04013	0.001	T	0.03103	-1.1072	10	0.51188	T	0.08	-15.7542	5.1733	0.15122	0.1205:0.6134:0.1313:0.1348	.	57	Q8WVJ2	NUDC2_HUMAN	S	57	ENSP00000304854:G57S;ENSP00000430347:G57S	ENSP00000304854:G57S	G	-	1	0	NUDCD2	162819466	0.852000	0.29690	1.000000	0.80357	0.984000	0.73092	0.721000	0.25911	2.778000	0.95560	0.650000	0.86243	GGC	.		0.647	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		T	162886888	C	T	162886888	3	4	5	1	0	0	0	0	1	0	0	0	10762	623	22	3	320	3	NUDCD2	5	162886888	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3104980	162886888	18028372	160	621											
ODZ2	57451	broad.mit.edu;bcgsc.ca	37	chr5	167643865	167643865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatctccaccctgctgGgctccaatgacctcactgcc	7	17	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:167643865G>A	ENST00000518659.1	+	22	4210	c.4171G>A	c.(4171-4173)Ggc>Agc	p.G1391S	TENM2_ENST00000520394.1_Missense_Mutation_p.G1152S|TENM2_ENST00000545108.1_Missense_Mutation_p.G1390S|TENM2_ENST00000519204.1_Missense_Mutation_p.G1270S|TENM2_ENST00000403607.2_Missense_Mutation_p.G1215S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1391					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)										CACCCTGCTGGGCTCCAATGA	0.512																																					p.G1382S		.											.	.	0			c.G4144A						.						90	94	93					5																	167643865		2045	4192	6237	SO:0001583	missense	57451	exon22			CTGCTGGGCTCCA	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.4171G>A	5.37:g.167643865G>A	ENSP00000429430:p.Gly1391Ser	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	258	11	NM_001122679	0	0	0	0	0	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.236515	0.95240	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.045214	0.85682	D	0.000000	D	0.95755	0.8619	M	0.91561	3.22	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.998;0.971	D;D;P	0.70016	0.967;0.927;0.572	D	0.96423	0.9313	10	0.87932	D	0	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1390;1391;1152	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	1391;1390;1270;1152;1215	ENSP00000429430:G1391S;ENSP00000438635:G1390S;ENSP00000428964:G1270S;ENSP00000427874:G1152S;ENSP00000384905:G1215S	ENSP00000384905:G1215S	G	+	1	0	ODZ2	167576443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	GGC	.		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167643865	G	A	167643865	3	1	5	1	0	0	0	0	1	0	0	0	10874	1232	43	3	4230	3	ODZ2	5	167643865	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4756977	167643865	13271395	161	622											
CLTB	1212	hgsc.bcm.edu;mdanderson.org	37	chr5	175843341	175843342	+	Missense_Mutation	DNP	GA	GA	CG													gcaccgctctccgacgacgaGaagaagccaaagtcatcagc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:175843341_175843342GA>CG	ENST00000310418.4	-	1	228_229	c.23_24TC>CG	c.(22-24)tTC>tCG	p.F8S	CLTB_ENST00000345807.2_Missense_Mutation_p.F8S	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	8					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CCGACGACGAGAAGAAGCCAAA	0.728																																					p.F8S		.											.	CLTB-90	0			c.T23C						.																																			SO:0001583	missense	1212	exon1			GACGAGAAGAAGC	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.23_24delinsCG	5.37:g.175843341_175843342delinsCG	ENSP00000309415:p.Phe8Ser	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	192	0	NM_001834	0	0	0	0	0	Q53Y37|Q6FHW1	Missense_Mutation	DNP	ENST00000310418.4	37	CCDS4403.1																																																																																			.		0.728	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			CG	175843342	GA	CG	175843341	3	2	5	1	0	0	0	0	1	0	0	0	3572	933	33	3	689	3	CLTB	5	175843341	Missense_Mutation	DNP	GA	TCGA-OR-A5J5-01A-11D-A29I-10	8199476	175843341	5071919	162	623											
FGFR4	2264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176520335	176520335	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctctggcccgacaggtActgggcgcatcccccacctc	9	19	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:176520335A>G	ENST00000292408.4	+	9	1496				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Missense_Mutation_p.T354A|FGFR4_ENST00000292410.3_Missense_Mutation_p.T354A|FGFR4_ENST00000502906.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4						alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCCGACAGGTACTGGGCGCAT	0.667										TSP Lung(9;0.080)																											p.T354A		.											.	FGFR4-1460	0			c.A1060G						.						68	72	71					5																	176520335		2203	4300	6503	SO:0001627	intron_variant	2264	exon8			ACAGGTACTGGGC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1251+3A>G	5.37:g.176520335A>G		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	151	56	NM_022963	0	0	0	0	0	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	6.224	0.409441	0.11812	.	.	ENSG00000160867	ENST00000292410;ENST00000393637	T;T	0.78003	-1.14;-1.14	4.25	4.25	0.50352	.	.	.	.	.	T	0.54029	0.1833	N	0.08118	0	0.22827	N	0.998686	B	0.15141	0.012	B	0.11329	0.006	T	0.39941	-0.9589	9	0.09338	T	0.73	.	7.4025	0.26973	0.9:0.0:0.1:0.0	.	354	P22455-2	.	A	354	ENSP00000292410:T354A;ENSP00000377254:T354A	ENSP00000292410:T354A	T	+	1	0	FGFR4	176452941	0.992000	0.36948	0.973000	0.42090	0.740000	0.42216	4.604000	0.61112	1.795000	0.52594	0.459000	0.35465	ACT	.		0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			G	176520335	A	G	176520335	1	3	5	0	1	0	0	0	0	0	0	0	5890	391	14	4		4	FGFR4	5	176520335	Intron	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	676994	176520335	4394925	163	624											
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	176638620	176638620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcagggagaccgagaaCgtggaggttcattgagaggt	16	6	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:176638620C>T	ENST00000439151.2	+	5	3265	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	NSD1_ENST00000361032.4_Missense_Mutation_p.R971C|NSD1_ENST00000347982.4_Missense_Mutation_p.R805C|NSD1_ENST00000354179.4_Missense_Mutation_p.R805C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1074					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)		AGACCGAGAACGTGGAGGTTC	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1074C		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.C3220T						.						119	129	126					5																	176638620		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	CGAGAACGTGGAG	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.3220C>T	5.37:g.176638620C>T	ENSP00000395929:p.Arg1074Cys	Somatic	314	0		WXS	Illumina GAIIx	Phase_I	456	35	NM_022455	0	0	0	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005661	0.19199	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92858	-3.01;-3.01;-3.01;-3.12	4.24	-0.708	0.11241	.	0.926897	0.09094	N	0.849508	T	0.78904	0.4357	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.64428	-0.6410	9	.	.	.	.	4.3336	0.11075	0.4048:0.2083:0.3868:0.0	.	805;971;1074	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	805;1074;805;971	ENSP00000346111:R805C;ENSP00000395929:R1074C;ENSP00000343209:R805C;ENSP00000354310:R971C	.	R	+	1	0	NSD1	176571226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.196000	0.17176	0.000000	0.14550	-0.457000	0.05445	CGT	.		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176638620	C	T	176638620	3	4	5	1	0	0	0	0	1	0	0	0	10708	536	19	1	3234	1	NSD1	5	176638620	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	118285	176638620	4276640	164	625											
COL23A1	91522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	177669111	177669111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcactcctttccggcCggggacccctcgttctccct	8	20	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:177669111C>T	ENST00000390654.3	-	27	1870	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	505	Collagen-like 5.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTTTCCGGCCGGGGACCCCT	0.662																																					p.G505S		.											.	COL23A1-91	0			c.G1513A						.						16	20	18					5																	177669111		1916	4076	5992	SO:0001583	missense	91522	exon27			TCCGGCCGGGGAC	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1513G>A	5.37:g.177669111C>T	ENSP00000375069:p.Gly505Ser	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	156	32	NM_173465	0	0	1	1	0	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129334	0.56721	.	.	ENSG00000050767	ENST00000390654	D	0.99607	-6.27	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000003	D	0.99711	0.9889	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97388	0.9987	10	0.87932	D	0	-7.357	12.914	0.58195	0.0:1.0:0.0:0.0	.	505	Q86Y22	CONA1_HUMAN	S	505	ENSP00000375069:G505S	ENSP00000375069:G505S	G	-	1	0	COL23A1	177601717	1.000000	0.71417	0.925000	0.36789	0.805000	0.45488	5.611000	0.67674	2.095000	0.63458	0.455000	0.32223	GGC	.		0.662	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177669111	C	T	177669111	3	4	5	1	0	0	0	0	1	0	0	0	3689	652	23	1	121	1	COL23A1	5	177669111	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1030491	177669111	3246149	165	626											
RNF130	55819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179394008	179394008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcagtacatggcaaattCggctgcaaaatatttccagg	8	8	1	0	rs577094030		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr5:179394008C>T	ENST00000261947.4	-	7	1346	c.948G>A	c.(946-948)ccG>ccA	p.P316P	RNF130_ENST00000521389.1_Silent_p.P316P|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Silent_p.P316P	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAATTCGGCTGCAAAA	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		20024	0		0	False		,,,				2504	0				p.P316P	GBM(24;432 554 38471 39699 51728)	.											.	RNF130-227	0			c.G948A						.						79	80	79					5																	179394008		2203	4300	6503	SO:0001819	synonymous_variant	55819	exon7			CAAATTCGGCTGC	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.948G>A	5.37:g.179394008C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	126	59	NM_018434	0	0	0	0	0		Silent	SNP	ENST00000261947.4	37																																																																																				.		0.423	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		T	179394008	C	T	179394008	2	4	5	1	0	0	0	0	0	0	0	1	13483	871	31	1		1	RNF130	5	179394008	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1724897	179394008	1521252	166	627											
C6orf145	221749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	3738356	3738356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaagcctggtctctatgtCgtgggcttcctttatggcaa	10	9	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:3738356C>T	ENST00000380283.4	-	2	777	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	95	PX.						phosphatidylinositol binding (GO:0035091)										GTCTCTATGTCGTGGGCTTCC	0.522																																					p.D95N		.											.	.	0			c.G283A						.						255	227	237					6																	3738356		2203	4300	6503	SO:0001583	missense	221749	exon2			CTATGTCGTGGGC	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.283G>A	6.37:g.3738356C>T	ENSP00000369636:p.Asp95Asn	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	88	82	NM_183373	0	0	0	1	1	A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534049	0.85812	.	.	ENSG00000168994	ENST00000380283	T	0.39406	1.08	5.14	5.14	0.70334	Phox homologous domain (3);	0.045076	0.85682	D	0.000000	T	0.44993	0.1320	M	0.62723	1.935	0.80722	D	1	D	0.63046	0.992	P	0.55055	0.767	T	0.24083	-1.0170	10	0.27785	T	0.31	-39.1529	17.375	0.87390	0.0:1.0:0.0:0.0	.	95	Q5TGL8	CF145_HUMAN	N	95	ENSP00000369636:D95N	ENSP00000369636:D95N	D	-	1	0	C6orf145	3683355	1.000000	0.71417	0.918000	0.36340	0.918000	0.54935	6.599000	0.74127	2.406000	0.81754	0.555000	0.69702	GAC	.		0.522	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		T	3738356	C	T	3738356	3	4	5	1	0	0	0	0	1	0	0	0	2341	884	31	1	428	1	C6orf145	6	3738356	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		3738356	167376711	167	628											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	12120284	12120284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagtcatctttcgccGttcttcatagtgcttcggag	10	10	4	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:12120284G>A	ENST00000379388.2	+	4	588	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	86					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCTTTCGCCGTTCTTCATAG	0.373																																					p.V86I		.											.	HIVEP1-139	0			c.G256A						.						127	121	122					6																	12120284		1834	4087	5921	SO:0001583	missense	3096	exon4			TTCGCCGTTCTTC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.256G>A	6.37:g.12120284G>A	ENSP00000368698:p.Val86Ile	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	47	28	NM_002114	0	0	0	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275786	0.05679	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545	T	0.09911	2.93	5.79	-0.201	0.13212	.	1.179740	0.06645	N	0.761823	T	0.03390	0.0098	M	0.62723	1.935	0.09310	N	1	B	0.25312	0.123	B	0.11329	0.006	T	0.45056	-0.9287	10	0.21014	T	0.42	-0.0428	7.545	0.27761	0.2412:0.4221:0.3367:0.0	.	86	P15822	ZEP1_HUMAN	I	86	ENSP00000368698:V86I	ENSP00000368698:V86I	V	+	1	0	HIVEP1	12228270	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.112000	0.15479	-0.348000	0.08286	-0.719000	0.03609	GTT	.		0.373	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12120284	G	A	12120284	3	1	5	1	0	0	0	0	1	0	0	0	7213	1145	40	1	266	1	HIVEP1	6	12120284	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	8381928	12120284	158994783	168	629											
ATXN1	6310	broad.mit.edu	37	chr6	16327865	16327867	+	In_Frame_Del	DEL	TGC	TGC	-													gccccggagccctgctgaggTgctgctgctgctgctgctgc					rs192671844	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:16327865_16327867delTGC	ENST00000244769.4	-	8	1611_1613	c.675_677delGCA	c.(673-678)cagcac>cac	p.Q225del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q225del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTGCTGAGGtgctgctgctgct	0.655																																					p.225_226del		.											.	ATXN1-93	0			c.675_677del						.																																			SO:0001651	inframe_deletion	6310	exon7			CTGAGGTGCTGCT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677delGCA	6.37:g.16327874_16327876delTGC	ENSP00000244769:p.Gln225del	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	44	8	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.655	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		-	16327867	TGC	-	16327865	7	5	5	1	0	1	0	1	0	0	0	0	1210	1696	59	0	1778	0	ATXN1	6	16327865	In_Frame_Del	DEL	TGC	TCGA-OR-A5J5-01A-11D-A29I-10	4207581	16327865	154787202	169	630											
VARS2	57176	bcgsc.ca	37	chr6	30890885	30890885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcttcccttccagcgggCgacttgcacctgtcagtctc	9	15	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:30890885C>T	ENST00000321897.5	+	23	2822	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	VARS2_ENST00000542001.1_Silent_p.G590G|VARS2_ENST00000541562.1_Silent_p.G760G|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.G730G			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	730					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCCAGCGGGCGACTTGCACC	0.567																																					p.G760G		.											.	VARS2-26	0			c.C2280T						.						84	86	85					6																	30890885		1510	2708	4218	SO:0001819	synonymous_variant	57176	exon24			AGCGGGCGACTTG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2190C>T	6.37:g.30890885C>T		Somatic	73	4		WXS	Illumina GAIIx	Phase_I	82	71	NM_001167734	0	0	0	0	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																			.		0.567	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30890885	C	T	30890885	2	4	5	1	0	0	0	0	0	0	0	1	17173	755	27	1		1	VARS2	6	30890885	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	14563020	30890885	140224182	170	631											
HLA-B	3106	hgsc.bcm.edu	37	chr6	31323953	31323960	+	Frame_Shift_Del	DEL	CCAGCTTG	CCAGCTTG	-													gcccctggtaccagcgcgctCcagcttgtccttcccgttct					rs113893121|rs151341334|rs151341333|rs1131279|rs137854786|rs1131275|rs1131285	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CCAGCTTG	CCAGCTTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:31323953_31323960delCCAGCTTG	ENST00000412585.2	-	3	631_638	c.603_610delCAAGCTGG	c.(601-612)gacaagctggagfs	p.DKL201fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	201	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						CCAGCGCGCTCCAGCTTGTCCTTCCCGT	0.654									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.201_204del		.											.	HLA-B-90	0			c.603_610del						.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	CGCGCTCCAGCTT	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.603_610delCAAGCTGG	6.37:g.31323953_31323960delCCAGCTTG	ENSP00000399168:p.Asp201fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	49	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.654	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31323960	CCAGCTTG	-	31323953	7	5	5	1	0	1	0	1	0	0	0	0	7223	864	30	0	498	0	HLA-B	6	31323953	Frame_Shift_Del	DEL	CCAGCTTG	TCGA-OR-A5J5-01A-11D-A29I-10	433068	31323953	139791114	171	632											
VARS	7407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	31759412	31759412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggagtcctggatggCgttggtgagtgcatggccca	17	8	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:31759412C>T	ENST00000375663.3	-	8	1515	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	VARS_ENST00000444930.2_Missense_Mutation_p.A64T	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	359					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCCTGGATGGCGTTGGTGAGT	0.582																																					p.A359T		.											.	VARS-93	0			c.G1075A						.						141	100	115					6																	31759412		1511	2708	4219	SO:0001583	missense	7407	exon8			GGATGGCGTTGGT	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.1075G>A	6.37:g.31759412C>T	ENSP00000364815:p.Ala359Thr	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	144	123	NM_006295	0	0	0	2	2	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740816	0.69304	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.20332	2.08;2.08	5.43	5.43	0.79202	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.057463	0.64402	D	0.000002	T	0.09905	0.0243	N	0.11724	0.165	0.58432	D	0.999995	D	0.56287	0.975	P	0.50082	0.63	T	0.20472	-1.0274	10	0.17369	T	0.5	-14.6369	16.7219	0.85412	0.0:1.0:0.0:0.0	.	359	P26640	SYVC_HUMAN	T	359;64	ENSP00000364815:A359T;ENSP00000398317:A64T	ENSP00000364815:A359T	A	-	1	0	VARS	31867391	0.999000	0.42202	1.000000	0.80357	0.826000	0.46750	3.915000	0.56409	2.560000	0.86352	0.467000	0.42956	GCC	.		0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		T	31759412	C	T	31759412	3	4	5	1	0	0	0	0	1	0	0	0	17172	768	27	1	2811	1	VARS	6	31759412	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	435459	31759412	139355655	172	633											
CYP21A2	1589	bcgsc.ca	37	chr6	32007865	32007865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcatggaagagggctcTggacagctcctggaagggca	16	10	1	1	rs11970671		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:32007865T>C	ENST00000418967.2	+	7	980	c.822T>C	c.(820-822)tcT>tcC	p.S274S	CYP21A2_ENST00000435122.2_Silent_p.S244S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	273					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AAGAGGGCTCTGGACAGCTCC	0.612																																					.	Melanoma(174;1669 1998 3915 34700 46447)	.											.	CYP21A2-68	0			.						.						246	228	235					6																	32007865		1511	2709	4220	SO:0001819	synonymous_variant	1589	.			GGGCTCTGGACAG	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.822T>C	6.37:g.32007865T>C		Somatic	275	5		WXS	Illumina GAIIx	Phase_I	278	244	.	1	0	7	1106	1098	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	CCDS4735.1																																																																																			.		0.612	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		C	32007865	T	C	32007865	2	2	5	1	0	0	0	0	0	0	0	1	4162	1567	55	4		4	CYP21A2	6	32007865	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	248453	32007865	139107202	173	634											
SYNGAP1	8831	broad.mit.edu;bcgsc.ca	37	chr6	33415649	33415649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggaggagctgcgccGggaccaccccgccatggctg	18	13	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:33415649G>A	ENST00000418600.2	+	18	3925	c.3824G>A	c.(3823-3825)cGg>cAg	p.R1275Q	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R1216Q|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R1275Q|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1275					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGCTGCGCCGGGACCACCCC	0.607																																					p.R1275Q		.											.	SYNGAP1-48	0			c.G3824A						.						46	42	43					6																	33415649		2099	4028	6127	SO:0001583	missense	8831	exon18			TGCGCCGGGACCA	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3824G>A	6.37:g.33415649G>A	ENSP00000403636:p.Arg1275Gln	Somatic	70	2		WXS	Illumina GAIIx	Phase_I	161	71	NM_006772	0	0	1	3	2	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	g	15.49	2.848248	0.51164	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.13420	2.59;2.59;2.59	4.12	4.12	0.48240	.	0.221244	0.29328	N	0.012469	T	0.03520	0.0101	L	0.40543	1.245	0.25841	N	0.984055	P;P	0.47604	0.898;0.876	B;B	0.32533	0.147;0.091	T	0.28996	-1.0026	10	0.72032	D	0.01	.	7.6939	0.28583	0.1135:0.0:0.8865:0.0	.	1275;1275	Q96PV0;Q96PV0-4	SYGP1_HUMAN;.	Q	1275;1275;1259;1216	ENSP00000293748:R1275Q;ENSP00000403636:R1275Q;ENSP00000412475:R1216Q	ENSP00000293748:R1275Q	R	+	2	0	SYNGAP1	33523627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.493000	0.35605	2.148000	0.66965	0.552000	0.68991	CGG	.		0.607	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33415649	G	A	33415649	3	1	5	1	0	0	0	0	1	0	0	0	15494	1116	39	1	3894	1	SYNGAP1	6	33415649	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1407784	33415649	137699418	174	635											
C6orf106	64771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	34558353	34558353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacccgtttaagactggcCgaaggggtaaggcccatgga	14	10	0	1	rs375408800		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:34558353C>T	ENST00000374023.3	-	5	1129	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	C6orf106_ENST00000374021.1_Missense_Mutation_p.G222S|C6orf106_ENST00000374026.3_Missense_Mutation_p.G230S	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	296										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TAAGACTGGCCGAAGGGGTAA	0.493																																					p.G296S		.											.	C6orf106-93	0			c.G886A						.	C	SER/GLY,SER/GLY	0,4406		0,0,2203	108	105	106		688,886	5.9	1	6		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C6orf106	NM_022758.4,NM_024294.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	230/233,296/299	34558353	1,13005	2203	4300	6503	SO:0001583	missense	64771	exon5			ACTGGCCGAAGGG	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.886G>A	6.37:g.34558353C>T	ENSP00000363135:p.Gly296Ser	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	76	43	NM_024294	0	0	2	2	0	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624677	0.87560	0.0	1.16E-4	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.9	5.9	0.94986	.	0.305992	0.35555	N	0.003135	T	0.67832	0.2935	L	0.36672	1.1	0.58432	D	0.99999	D;D	0.89917	1.0;0.998	D;P	0.80764	0.994;0.843	T	0.70310	-0.4907	9	0.87932	D	0	0.0482	18.4361	0.90646	0.0:1.0:0.0:0.0	.	230;296	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	S	296;230;222	.	ENSP00000363133:G222S	G	-	1	0	C6orf106	34666331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.999000	0.63934	2.791000	0.96007	0.655000	0.94253	GGC	.		0.493	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		T	34558353	C	T	34558353	3	4	5	1	0	0	0	0	1	0	0	0	2326	652	23	1	14	1	C6orf106	6	34558353	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1142704	34558353	136556714	175	636											
SRPK1	6732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	35837637	35837637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccaccctctgtatcacGttccataagcgtttgatcct	6	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:35837637G>A	ENST00000373825.2	-	11	1318	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	SRPK1_ENST00000373822.1_Missense_Mutation_p.R238C|SRPK1_ENST00000423325.2_Missense_Mutation_p.R329C					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCTGTATCACGTTCCATAAGC	0.358																																					p.R345C	NSCLC(31;67 978 16289 24856 26454)	.											.	SRPK1-359	0			c.C1033T						.						178	169	172					6																	35837637		1898	4112	6010	SO:0001583	missense	6732	exon11			TATCACGTTCCAT	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1033C>T	6.37:g.35837637G>A	ENSP00000362931:p.Arg345Cys	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	89	75	NM_003137	0	0	0	1	1		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671366	0.29693	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.27890	1.64;1.64;1.64;1.71	5.96	5.08	0.68730	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.10981	0.0268	L	0.38175	1.15	0.39096	D	0.961185	B;P	0.44006	0.001;0.824	B;B	0.33799	0.001;0.17	T	0.04495	-1.0947	9	0.54805	T	0.06	-1.4858	8.52	0.33270	0.0:0.2644:0.5888:0.1468	.	329;345	B4DS61;Q96SB4	.;SRPK1_HUMAN	C	345;361;329;238;83	ENSP00000362931:R345C;ENSP00000354674:R361C;ENSP00000391069:R329C;ENSP00000362928:R238C	ENSP00000354674:R361C	R	-	1	0	SRPK1	35945615	0.880000	0.30214	0.972000	0.41901	0.746000	0.42486	1.548000	0.36201	2.832000	0.97577	0.655000	0.94253	CGT	.		0.358	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		A	35837637	G	A	35837637	3	1	5	1	0	0	0	0	1	0	0	0	15206	1145	40	1	958	1	SRPK1	6	35837637	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1279284	35837637	135277430	176	637											
BRPF3	27154	broad.mit.edu	37	chr6	36175153	36175153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtattggcagaagctccggCatgacttggagcgggcgcgg	17	9	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:36175153C>G	ENST00000357641.6	+	4	1922	c.1669C>G	c.(1669-1671)Cat>Gat	p.H557D	BRPF3_ENST00000534400.1_Missense_Mutation_p.H557D|BRPF3_ENST00000339717.7_Missense_Mutation_p.H557D|BRPF3_ENST00000443324.2_Missense_Mutation_p.H557D|BRPF3_ENST00000534694.1_Missense_Mutation_p.H557D|BRPF3_ENST00000543502.1_Missense_Mutation_p.H557D	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	557					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAAGCTCCGGCATGACTTGGA	0.572																																					p.H557D		.											.	BRPF3-92	0			c.C1669G						.						64	57	60					6																	36175153		2203	4300	6503	SO:0001583	missense	27154	exon4			CTCCGGCATGACT	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1669C>G	6.37:g.36175153C>G	ENSP00000350267:p.His557Asp	Somatic	288	0		WXS	Illumina GAIIx	Phase_I	265	8	NM_015695	0	0	5	5	0	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630729	0.67015	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.18657	2.42;2.43;2.42;2.43;2.42;2.2	4.45	4.45	0.53987	.	0.050494	0.85682	D	0.000000	T	0.21227	0.0511	M	0.62723	1.935	0.80722	D	1	P;P;P	0.51791	0.675;0.675;0.948	B;B;P	0.47044	0.175;0.242;0.535	T	0.03364	-1.1044	10	0.52906	T	0.07	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	557;557;557	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	D	557	ENSP00000350267:H557D;ENSP00000345419:H557D;ENSP00000434501:H557D;ENSP00000445352:H557D;ENSP00000387368:H557D;ENSP00000436504:H557D	ENSP00000345419:H557D	H	+	1	0	BRPF3	36283131	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.694000	0.84235	2.201000	0.70794	0.655000	0.94253	CAT	.		0.572	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		G	36175153	C	G	36175153	3	3	5	1	0	0	0	0	1	0	0	0	1525	710	25	3	1679	3	BRPF3	6	36175153	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	337516	36175153	134939914	177	638											
MDGA1	266727	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	37619964	37619964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccgcttggacatgcGtgccggcttgccattcttga	12	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:37619964G>A	ENST00000434837.3	-	7	2313	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	MDGA1_ENST00000297153.7_Missense_Mutation_p.R379C|MDGA1_ENST00000505425.1_Missense_Mutation_p.R379C	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	379	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTGGACATGCGTGCCGGCTTG	0.592																																					p.R379C		.											.	MDGA1-91	0			c.C1135T						.						75	81	79					6																	37619964		2100	4204	6304	SO:0001583	missense	266727	exon7			ACATGCGTGCCGG	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1135C>T	6.37:g.37619964G>A	ENSP00000402584:p.Arg379Cys	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	115	55	NM_153487	0	0	0	0	0	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944408	0.73672	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.68903	-0.36;-0.36;-0.36	5.25	5.25	0.73442	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000251	T	0.65123	0.2661	M	0.72118	2.19	0.45634	D	0.998569	D	0.69078	0.997	P	0.54815	0.761	T	0.67699	-0.5603	10	0.39692	T	0.17	.	9.1798	0.37134	0.0:0.1462:0.6817:0.1721	.	379	Q8NFP4	MDGA1_HUMAN	C	379	ENSP00000402584:R379C;ENSP00000297153:R379C;ENSP00000422042:R379C	ENSP00000297153:R379C	R	-	1	0	MDGA1	37727942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.715000	0.47210	2.451000	0.82905	0.655000	0.94253	CGC	.		0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			A	37619964	G	A	37619964	3	1	5	1	0	0	0	0	1	0	0	0	9444	1145	40	1	1776	1	MDGA1	6	37619964	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1444811	37619964	133495103	178	639											
DAAM2	23500	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	39835483	39835483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatagcccagagcctacGcacagagaacagcaagacca	8	14	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:39835483G>A	ENST00000398904.2	+	6	808	c.626G>A	c.(625-627)cGc>cAc	p.R209H	DAAM2_ENST00000274867.4_Missense_Mutation_p.R209H|DAAM2_ENST00000538976.1_Missense_Mutation_p.R209H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGCCTACGCACAGAGAAC	0.582																																					p.R209H		.											.	DAAM2-228	0			c.G626A						.						52	55	54					6																	39835483		2185	4281	6466	SO:0001583	missense	23500	exon6			GCCTACGCACAGA	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.626G>A	6.37:g.39835483G>A	ENSP00000381876:p.Arg209His	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	71	62	NM_015345	0	0	1	1	0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172552	0.78452	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86694	-2.16;-2.16;-2.16	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.059530	0.64402	D	0.000003	T	0.69878	0.3160	N	0.16903	0.455	0.80722	D	1	B;B	0.18310	0.022;0.027	B;B	0.17722	0.011;0.019	T	0.68606	-0.5364	10	0.45353	T	0.12	.	14.6387	0.68708	0.0:0.1454:0.8546:0.0	.	209;209	G5EA45;Q86T65	.;DAAM2_HUMAN	H	209	ENSP00000274867:R209H;ENSP00000381876:R209H;ENSP00000437808:R209H	ENSP00000274867:R209H	R	+	2	0	DAAM2	39943461	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.867000	0.56047	2.587000	0.87381	0.561000	0.74099	CGC	.		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39835483	G	A	39835483	3	1	5	1	0	0	0	0	1	0	0	0	4225	1087	38	1	644	1	DAAM2	6	39835483	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2215519	39835483	131279584	179	640											
TREM1	54210	bcgsc.ca	37	chr6	41243926	41243926	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagaccaggctcttactcagGaatccaccagccaggagaat	9	12	2	2	rs2234245	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:41243926G>C	ENST00000244709.4	-	4	705	c.642C>G	c.(640-642)ttC>ttG	p.F214L	TREM1_ENST00000589614.1_Intron|TREM1_ENST00000334475.6_Missense_Mutation_p.S150C	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	214			F -> L (in dbSNP:rs2234245).		blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCTTACTCAGGAATCCACCAG	0.547													G|||	140	0.0279553	0.1006	0.0101	5008	,	,		19431	0		0	False		,,,				2504	0				p.F214L		.											.	TREM1-577	0			c.C642G						.	G	CYS/SER,LEU/PHE	299,4107	162.5+/-194.5	11,277,1915	174	143	154		449,642	1	0.1	6	dbSNP_98	154	7,8593	5.0+/-18.6	0,7,4293	yes	missense,missense	TREM1	NM_001242590.1,NM_018643.3	112,22	11,284,6208	CC,CG,GG		0.0814,6.7862,2.3528	possibly-damaging,possibly-damaging	150/151,214/235	41243926	306,12700	2203	4300	6503	SO:0001583	missense	54210	exon4			ACTCAGGAATCCA	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.642C>G	6.37:g.41243926G>C	ENSP00000244709:p.Phe214Leu	Somatic	177	2		WXS	Illumina GAIIx	Phase_I	161	6	NM_018643	0	0	0	0	0	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	46|46	0.021062271062271064|0.021062271062271064	41|41	0.08333333333333333|0.08333333333333333	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.63|18.63	3.665281|3.665281	0.67700|0.67700	0.067862|0.067862	8.14E-4|8.14E-4	ENSG00000124731|ENSG00000124731	ENST00000244709|ENST00000334475	T|T	0.04194|0.14144	3.68|2.53	4.86|4.86	1.0|1.0	0.19881|0.19881	.|.	0.883988|.	0.09394|.	N|.	0.808190|.	T|T	0.04543|0.04543	0.0124|0.0124	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999924|0.999924	B|P	0.02656|0.41546	0.0|0.754	B|B	0.01281|0.41299	0.0|0.353	T|T	0.30650|0.30650	-0.9971|-0.9971	9|8	0.02654|0.87932	T|D	1|0	-4.1779|-4.1779	4.7266|4.7266	0.12943|0.12943	0.2677:0.1574:0.5749:0.0|0.2677:0.1574:0.5749:0.0	rs2234245|rs2234245	214|150	Q9NP99|Q9NP99-2	TREM1_HUMAN|.	L|C	214|150	ENSP00000244709:F214L|ENSP00000334284:S150C	ENSP00000244709:F214L|ENSP00000334284:S150C	F|S	-|-	3|2	2|0	TREM1|TREM1	41351904|41351904	0.593000|0.593000	0.26840|0.26840	0.056000|0.056000	0.19401|0.19401	0.730000|0.730000	0.41778|0.41778	0.268000|0.268000	0.18571|0.18571	0.059000|0.059000	0.16252|0.16252	0.655000|0.655000	0.94253|0.94253	TTC|TCC	G|0.729;C|0.271		0.547	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		C	41243926	G	C	41243926	3	2	5	1	0	0	0	0	1	0	0	0	16518	1165	41	3	66	3	TREM1	6	41243926	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1408443	41243926	129871141	180	641											
CRISP2	7180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49660590	49660590	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaatcacagttacttaggaGatcttgatactggcaactat	9	7	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:49660590G>T	ENST00000339139.4	-	10	864	c.628C>A	c.(628-630)Ctc>Atc	p.L210I		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	210	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACTTAGGAGATCTTGATAC	0.378																																					p.L210I		.											.	CRISP2-91	0			c.C628A						.						116	105	109					6																	49660590		2203	4300	6503	SO:0001583	missense	7180	exon10			TTAGGAGATCTTG	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.628C>A	6.37:g.49660590G>T	ENSP00000339155:p.Leu210Ile	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	168	156	NM_001142408	0	0	0	0	0	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709442	0.15239	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08984	3.03	5.14	-3.89	0.04193	Cysteine-rich secretory protein (1);	1.537360	0.03512	N	0.219739	T	0.03220	0.0094	M	0.77103	2.36	0.18873	N	0.999982	B;B	0.19445	0.036;0.017	B;B	0.24974	0.029;0.057	T	0.46105	-0.9215	10	0.37606	T	0.19	.	0.3694	0.00377	0.3664:0.2303:0.1687:0.2347	.	245;210	Q7Z7B2;P16562	.;CRIS2_HUMAN	I	210;245	ENSP00000339155:L210I	ENSP00000211238:L245I	L	-	1	0	CRISP2	49768549	0.000000	0.05858	0.686000	0.30086	0.312000	0.27988	-1.884000	0.01622	-0.359000	0.08150	-0.158000	0.13435	CTC	.		0.378	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		T	49660590	G	T	49660590	3	4	5	1	0	0	0	0	1	0	0	0	3887	942	33	3	107	3	CRISP2	6	49660590	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	8416664	49660590	121454477	181	642											
PAQR8	85315	broad.mit.edu	37	chr6	52268989	52268991	+	In_Frame_Del	DEL	CTT	CTT	-													gtccacatggcctgcctctcCttcttcttcctggctgcctg							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:52268989_52268991delCTT	ENST00000442253.2	+	2	1152_1154	c.978_980delCTT	c.(976-981)tccttc>tcc	p.F329del	PAQR8_ENST00000360726.3_In_Frame_Del_p.F329del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	329					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGCCTCTCCTTCTTCTTCCTG	0.616																																					p.326_327del		.											.	PAQR8-68	0			c.978_980del						.																																			SO:0001651	inframe_deletion	85315	exon2			CCTCTCCTTCTTC	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.978_980delCTT	6.37:g.52268995_52268997delCTT	ENSP00000406197:p.Phe329del	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	115	8	NM_133367	0	0	0	0	0	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	In_Frame_Del	DEL	ENST00000442253.2	37	CCDS4941.1																																																																																			.		0.616	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		-	52268991	CTT	-	52268989	7	5	5	1	0	1	0	1	0	0	0	0	11480	668	24	0	980	0	PAQR8	6	52268989	In_Frame_Del	DEL	CTT	TCGA-OR-A5J5-01A-11D-A29I-10	2608399	52268989	118846078	182	643											
EYS	346007	broad.mit.edu	37	chr6	66005970	66005970	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaagcaatagtcaacattGacaacacacaatctgccaat	4	12	2	1	rs9345601	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:66005970G>A	ENST00000370621.3	-	12	2335	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	EYS_ENST00000503581.1_Silent_p.V603V|EYS_ENST00000370616.2_Silent_p.V603V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	603					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						AGTCAACATTGACAACACACA	0.383													G|||	2979	0.594848	0.2209	0.7161	5008	,	,		15118	0.8948		0.5915	False		,,,				2504	0.7086				p.V603V		.											.	EYS-660	0			c.C1809T						.	G		416,968		70,276,346	112	86	94		1809	1.5	0	6	dbSNP_119	94	1855,1325		535,785,270	no	coding-synonymous	EYS	NM_001142800.1		605,1061,616	AA,AG,GG		41.6667,30.0578,49.759		603/3145	66005970	2271,2293	692	1590	2282	SO:0001819	synonymous_variant	346007	exon12			AACATTGACAACA		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.1809C>T	6.37:g.66005970G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	107	4	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				G|0.404;A|0.596		0.383	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66005970	G	A	66005970	2	1	5	1	0	0	0	0	0	0	0	1	5348	1277	45	3		3	EYS	6	66005970	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13736981	66005970	105109097	183	644											
LMBRD1	55788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	70423650	70423650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaaattgttttaaggCgcgtttatcccttgctggca	8	9	2	0	rs143758103		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:70423650C>T	ENST00000370577.3	-	9	1031	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	LMBRD1_ENST00000370570.1_Missense_Mutation_p.A195T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	268					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGTTTTAAGGCGCGTTTATCC	0.378													C|||	1	0.000199681	0	0	5008	,	,		19260	0.001		0	False		,,,				2504	0				p.A268T		.											.	LMBRD1-91	0			c.G802A						.						109	106	107					6																	70423650		2203	4300	6503	SO:0001583	missense	55788	exon9			TTAAGGCGCGTTT	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.802G>A	6.37:g.70423650C>T	ENSP00000359609:p.Ala268Thr	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	46	44	NM_018368	0	0	0	0	0	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.728	0.135462	0.09032	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.21543	2.0;2.0	5.63	1.68	0.24146	.	0.312287	0.39475	N	0.001354	T	0.03305	0.0096	N	0.20530	0.585	0.27558	N	0.950293	B	0.02656	0.0	B	0.04013	0.001	T	0.45352	-0.9267	10	0.18710	T	0.47	-1.3681	7.4857	0.27432	0.1139:0.5977:0.0:0.2885	.	268	Q9NUN5	LMBD1_HUMAN	T	268;195	ENSP00000359609:A268T;ENSP00000359602:A195T	ENSP00000359602:A195T	A	-	1	0	LMBRD1	70480371	0.053000	0.20554	0.661000	0.29709	0.637000	0.38172	0.287000	0.18920	0.360000	0.24265	0.591000	0.81541	GCC	A|0.000;C|1.000;T|0.000		0.378	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		T	70423650	C	T	70423650	3	4	5	1	0	0	0	0	1	0	0	0	8872	768	27	1	852	1	LMBRD1	6	70423650	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4417680	70423650	100691417	184	645											
C6orf57	135154	bcgsc.ca	37	chr6	71289189	71289189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctgaacttgtcaaacAgtcccttaagaagccgaagt	8	9	2	2	rs1048886	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:71289189A>G	ENST00000370474.3	+	2	161	c.137A>G	c.(136-138)cAg>cGg	p.Q46R		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	46			Q -> R (in dbSNP:rs1048886).		innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						CTTGTCAAACAGTCCCTTAAG	0.403													A|||	992	0.198083	0.3192	0.2161	5008	,	,		14511	0.0833		0.175	False		,,,				2504	0.1636				p.Q46R		.											.	C6orf57-90	0			c.A137G						.	A	ARG/GLN	1319,3087	444.5+/-347.4	207,905,1091	112	111	111	http://www.ncbi.nlm.nih.gov/pubmed?term	137	4.6	0.1	6	dbSNP_86	111	1468,7132	281.2+/-294.9	141,1186,2973	yes	missense	C6orf57	NM_145267.2	43	348,2091,4064	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	17.0698,29.9365,21.4286	probably-damaging	46/109	71289189	2787,10219	2203	4300	6503	SO:0001583	missense	135154	exon2			TCAAACAGTCCCT	BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.137A>G	6.37:g.71289189A>G	ENSP00000359505:p.Gln46Arg	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	63	5	NM_145267	0	0	11	11	0	E1P532	Missense_Mutation	SNP	ENST00000370474.3	37	CCDS4972.1	447	0.20467032967032966	165	0.3353658536585366	78	0.2154696132596685	63	0.11013986013986014	141	0.18601583113456466	A	10.53	1.375636	0.24857	0.299365	0.170698	ENSG00000154079	ENST00000370474	T	0.31247	1.5	5.82	4.64	0.57946	.	0.101718	0.64402	D	0.000002	T	0.21307	0.0513	M	0.72894	2.215	0.47511	P	5.519999999999969E-4	B	0.27910	0.193	B	0.34536	0.185	T	0.08229	-1.0732	9	0.54805	T	0.06	-6.9699	10.8459	0.46743	0.8415:0.1584:0.0:0.0	rs1048886;rs3188927;rs56527910;rs61433581;rs1048886	46	Q5VUM1	CF057_HUMAN	R	46	ENSP00000359505:Q46R	ENSP00000359505:Q46R	Q	+	2	0	C6orf57	71345910	0.926000	0.31397	0.062000	0.19696	0.196000	0.23810	4.409000	0.59768	0.989000	0.38761	0.472000	0.43445	CAG	A|0.787;G|0.213		0.403	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1	NM_145267		G	71289189	A	G	71289189	3	3	5	1	0	0	0	0	1	0	0	0	2373	188	7	4	143	4	C6orf57	6	71289189	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	865539	71289189	99825878	185	646											
DPPA5	340168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	74063857	74063857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaatggctttcagcagcCgcgtctggacctggaacacc	11	13	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:74063857C>T	ENST00000370370.3	-	1	161	c.92G>A	c.(91-93)cGg>cAg	p.R31Q		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	31	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTTCAGCAGCCGCGTCTGGAC	0.597																																					p.R31Q		.											.	DPPA5-90	0			c.G92A						.						68	66	67					6																	74063857		2203	4300	6503	SO:0001583	missense	340168	exon1			AGCAGCCGCGTCT		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.92G>A	6.37:g.74063857C>T	ENSP00000359396:p.Arg31Gln	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	75	32	NM_001025290	0	0	0	0	0	B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.911995	0.17907	.	.	ENSG00000203909	ENST00000370370	T	0.11063	2.81	3.7	0.743	0.18347	K Homology (1);	1.383120	0.04870	N	0.445789	T	0.01800	0.0057	N	0.17674	0.51	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.45220	-0.9276	10	0.24483	T	0.36	.	3.758	0.08593	0.0:0.5542:0.2007:0.2452	.	31	A6NC42	DPPA5_HUMAN	Q	31	ENSP00000359396:R31Q	ENSP00000359396:R31Q	R	-	2	0	DPPA5	74120578	0.008000	0.16893	0.001000	0.08648	0.084000	0.17831	0.050000	0.14120	0.142000	0.18901	0.485000	0.47835	CGG	.		0.597	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		T	74063857	C	T	74063857	3	4	5	1	0	0	0	0	1	0	0	0	4751	652	23	1	270	1	DPPA5	6	74063857	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2774668	74063857	97051210	186	647											
BEND3	57673	broad.mit.edu;bcgsc.ca	37	chr6	107390069	107390069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggatgagccgcagccGcgtggggtccagttgcttct	17	11	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:107390069G>A	ENST00000369042.1	-	4	2516	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W	BEND3_ENST00000429433.2_Missense_Mutation_p.R776W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	776	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.R776W(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGCCGCAGCCGCGTGGGGTCC	0.607																																					p.R776W		.											.	BEND3-71	1	Substitution - Missense(1)	large_intestine(1)	c.C2326T						.						52	51	51					6																	107390069		2202	4300	6502	SO:0001583	missense	57673	exon5			GCAGCCGCGTGGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2326C>T	6.37:g.107390069G>A	ENSP00000358038:p.Arg776Trp	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	85	6	NM_001080450	0	0	1	1	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286557	0.40494	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.45668	0.89;0.89	5.32	3.46	0.39613	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.56769	1.78	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.54964	-0.8214	10	0.87932	D	0	-23.0874	13.2798	0.60208	0.0:0.0:0.4048:0.5952	.	776	Q5T5X7	BEND3_HUMAN	W	776	ENSP00000358038:R776W;ENSP00000411268:R776W	ENSP00000358038:R776W	R	-	1	2	BEND3	107496762	1.000000	0.71417	0.661000	0.29709	0.695000	0.40330	4.856000	0.62932	0.559000	0.29153	0.455000	0.32223	CGG	.		0.607	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		A	107390069	G	A	107390069	3	1	5	1	0	0	0	0	1	0	0	0	1400	1086	38	1	164	1	BEND3	6	107390069	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	33326212	107390069	63724998	187	648											
PLAGL1	5325	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	144269186	144269186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacacacttgtacggccGctccctggagtgggaataat	11	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:144269186G>A	ENST00000360537.2	-	4	2001	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PLAGL1_ENST00000354765.2_Missense_Mutation_p.R30W|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R30W|PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R30W			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	30					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TTGTACGGCCGCTCCCTGGAG	0.498																																					p.R30W		.											.	PLAGL1-91	0			c.C88T						.						81	67	72					6																	144269186		2203	4300	6503	SO:0001583	missense	5325	exon6			ACGGCCGCTCCCT	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.88C>T	6.37:g.144269186G>A	ENSP00000353734:p.Arg30Trp	Somatic	278	2		WXS	Illumina GAIIx	Phase_I	274	253	NM_001080953	0	0	0	0	0	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193799	0.78902	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000367571	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	6.02	5.14	0.70334	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.36358	0.0964	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43507	-0.9387	10	0.87932	D	0	-31.3473	13.3642	0.60674	0.0:0.0:0.7134:0.2866	.	30	Q9UM63	PLAL1_HUMAN	W	30	ENSP00000353734:R30W;ENSP00000346810:R30W;ENSP00000400929:R30W;ENSP00000398409:R30W;ENSP00000376125:R30W;ENSP00000400060:R30W;ENSP00000356543:R30W	ENSP00000346810:R30W	R	-	1	2	PLAGL1	144310879	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.214000	0.51161	1.518000	0.48934	0.655000	0.94253	CGG	.		0.498	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			A	144269186	G	A	144269186	3	1	5	1	0	0	0	0	1	0	0	0	12058	1086	38	1	1311	1	PLAGL1	6	144269186	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	36879117	144269186	26845881	188	649											
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-													aagtaattgcagaagaagaaCcccccacggttactgaacct							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr6:151672365delC	ENST00000253332.1	+	3	3028	c.2839delC	c.(2839-2841)cccfs	p.P948fs	AKAP12_ENST00000402676.2_Frame_Shift_Del_p.P948fs|AKAP12_ENST00000354675.6_Frame_Shift_Del_p.P850fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.P843fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	948					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)		AGAAGAAGAACCCCCCACGGT	0.522																																					p.P947fs	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.2839delC						.						53	59	57					6																	151672365		2203	4300	6503	SO:0001589	frameshift_variant	9590	exon4			GAAGAACCCCCCA	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.2839delC	6.37:g.151672365delC	ENSP00000253332:p.Pro948fs	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	33	27	NM_005100	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.522	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			-	151672365	C	-	151672365	7	5	5	1	0	1	0	1	0	0	0	0	448	507	18	0	2878	0	AKAP12	6	151672365	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	7403179	151672365	19442702	189	650											
FOXK1	221937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	4799094	4799094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcagcaggcccccaccGtcaccatggtcagggtggtc	13	15	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:4799094G>A	ENST00000328914.4	+	7	1564	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	FOXK1_ENST00000446823.1_Missense_Mutation_p.V359I	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)		GGCCCCCACCGTCACCATGGT	0.697																																					p.V522I		.											.	FOXK1-516	0			c.G1564A						.						35	27	30					7																	4799094		2196	4296	6492	SO:0001583	missense	221937	exon7			CCCACCGTCACCA	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.1564G>A	7.37:g.4799094G>A	ENSP00000328720:p.Val522Ile	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	109	37	NM_001037165	0	0	3	4	1		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526452	0.64860	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96802	-3.81;-4.13	5.65	5.65	0.86999	.	0.061325	0.64402	D	0.000004	D	0.94265	0.8158	L	0.60455	1.87	0.53005	D	0.999962	P;P	0.41597	0.756;0.75	B;B	0.33568	0.166;0.127	D	0.93516	0.6857	10	0.33940	T	0.23	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	522;359	P85037;P85037-2	FOXK1_HUMAN;.	I	359;278;522;405	ENSP00000394442:V359I;ENSP00000328720:V522I	ENSP00000328720:V522I	V	+	1	0	FOXK1	4765620	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	6.257000	0.72480	2.824000	0.97209	0.655000	0.94253	GTC	.		0.697	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			A	4799094	G	A	4799094	3	1	5	1	0	0	0	0	1	0	0	0	6038	1145	40	1	1590	1	FOXK1	7	4799094	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		4799094	154339569	190	651											
TNRC18	84629	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	5352513	5352515	+	In_Frame_Del	DEL	GAA	GAA	-													agtcctcgtctgtggtggagGaagaagaggaggaagaggag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	GAA	GAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:5352513_5352515delGAA	ENST00000430969.1	-	27	8355_8357	c.8007_8009delTTC	c.(8005-8010)tcttcc>tcc	p.2669_2670SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2669_2670SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2669	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)		TGTGGTggaggaagaagaggagg	0.65																																					p.2669_2670del		.											.	TNRC18-46	0			c.8007_8009del						.																																			SO:0001651	inframe_deletion	84629	exon27			GTGGAGGAAGAAG	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.8007_8009delTTC	7.37:g.5352516_5352518delGAA	ENSP00000395538:p.Ser2671del	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	55	13	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																			.		0.65	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5352515	GAA	-	5352513	7	5	5	1	0	1	0	1	0	0	0	0	16386	1174	41	0	913	0	TNRC18	7	5352513	In_Frame_Del	DEL	GAA	TCGA-OR-A5J5-01A-11D-A29I-10	553419	5352513	153786150	191	652											
DNAH11	8701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	21646323	21646323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctcttggatttaatgCagaaaatccatacacagcgc	7	12	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:21646323C>T	ENST00000409508.3	+	20	3855	c.3824C>T	c.(3823-3825)gCa>gTa	p.A1275V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1275V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1275	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						GGATTTAATGCAGAAAATCCA	0.328									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						68	67	67					7																	21646323		1843	4108	5951	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTAATGCAGAAAA	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.3824C>T	7.37:g.21646323C>T	ENSP00000475939:p.Ala1275Val	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	49	10	.	0	0	2	2	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	12.07	1.826154	0.32237	.	.	ENSG00000105877	ENST00000328843	T	0.20069	2.1	5.46	3.64	0.41730	.	0.424391	0.24386	N	0.038962	T	0.11281	0.0275	.	.	.	0.24544	N	0.994052	B	0.25719	0.132	B	0.21546	0.035	T	0.27434	-1.0074	9	0.15066	T	0.55	.	9.9116	0.41408	0.0:0.7796:0.0:0.2204	.	1275	Q96DT5	DYH11_HUMAN	V	1275	ENSP00000330671:A1275V	ENSP00000330671:A1275V	A	+	2	0	DNAH11	21612848	0.990000	0.36364	0.888000	0.34837	0.963000	0.63663	1.083000	0.30815	1.293000	0.44690	0.655000	0.94253	GCA	.		0.328	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21646323	C	T	21646323	3	4	5	1	0	0	0	0	1	0	0	0	4613	710	25	3	3902	3	DNAH11	7	21646323	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	16293810	21646323	137492340	192	653											
BLVRA	644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	43827548	43827548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttggtgttggccgagccGgctccgtgcggatgagggac	19	9	0	1	rs138715080		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:43827548G>A	ENST00000402924.1	+	4	221	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	BLVRA_ENST00000265523.4_Missense_Mutation_p.G20S	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	20					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGGCCGAGCCGGCTCCGTGCG	0.562													g|||	1	0.000199681	8e-04	0	5008	,	,		19142	0		0	False		,,,				2504	0				p.G20S		.											.	BLVRA-91	0			c.G58A						.	G	SER/GLY	6,4400	11.4+/-27.6	0,6,2197	245	188	207		58	5.1	0.9	7	dbSNP_134	207	0,8600		0,0,4300	yes	missense	BLVRA	NM_000712.3	56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	20/297	43827548	6,13000	2203	4300	6503	SO:0001583	missense	644	exon4			CGAGCCGGCTCCG	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.58G>A	7.37:g.43827548G>A	ENSP00000385757:p.Gly20Ser	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	264	76	NM_001253823	0	0	18	26	8	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738284	0.89573	0.001362	0.0	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.33216	1.42;1.42;1.42	5.06	5.06	0.68205	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.52793	-0.8528	10	0.17369	T	0.5	.	16.3034	0.82836	0.0:0.0:1.0:0.0	.	20	P53004	BIEA_HUMAN	S	20	ENSP00000265523:G20S;ENSP00000385757:G20S;ENSP00000412005:G20S	ENSP00000265523:G20S	G	+	1	0	BLVRA	43794073	1.000000	0.71417	0.924000	0.36721	0.736000	0.42039	4.853000	0.62911	2.527000	0.85204	0.561000	0.74099	GGC	G|1.000;A|0.000		0.562	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		A	43827548	G	A	43827548	3	1	5	1	0	0	0	0	1	0	0	0	1453	1116	39	1	64	1	BLVRA	7	43827548	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	22181225	43827548	115311115	193	654											
POLM	27434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44114081	44114081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgcagggcatctAcatcggaccgcaggactggg	13	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:44114081A>G	ENST00000242248.5	-	7	985	c.884T>C	c.(883-885)gTa>gCa	p.V295A	POLM_ENST00000335195.6_Silent_p.C292C|POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Silent_p.C249C	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	295					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						CAGGGCATCTACATCGGACCG	0.697								DNA polymerases (catalytic subunits)																													p.V295A		.											.	POLM-229	0			c.T884C						.						22	20	21					7																	44114081		2198	4299	6497	SO:0001583	missense	27434	exon7			GCATCTACATCGG	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.884T>C	7.37:g.44114081A>G	ENSP00000242248:p.Val295Ala	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	241	142	NM_013284	0	0	0	0	0	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	A	1.445	-0.566477	0.03910	.	.	ENSG00000122678	ENST00000242248	T	0.35236	1.32	5.38	-1.53	0.08611	DNA-directed DNA polymerase X (1);	.	.	.	.	T	0.12050	0.0293	N	0.02876	-0.465	0.23459	N	0.997631	B	0.02656	0.0	B	0.01281	0.0	T	0.34153	-0.9840	9	0.02654	T	1	-0.853	9.3801	0.38309	0.6183:0.0:0.3817:0.0	.	295	Q9NP87	DPOLM_HUMAN	A	295	ENSP00000242248:V295A	ENSP00000242248:V295A	V	-	2	0	POLM	44080606	0.423000	0.25482	0.000000	0.03702	0.652000	0.38707	1.368000	0.34216	-0.363000	0.08101	-0.388000	0.06559	GTA	.		0.697	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		G	44114081	A	G	44114081	3	3	5	1	0	0	0	0	1	0	0	0	12245	391	14	4	620	4	POLM	7	44114081	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	286533	44114081	115024582	194	655											
OGDH	4967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44747186	44747186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctcctagctgtcGccattcccctttgacctcct	6	18	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000543843.1_Silent_p.S885S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000447398.1_Silent_p.S945S|OGDH_ENST00000449767.1_Silent_p.S930S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					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)	CCTAGCTGTCGCCATTCCCCT	0.552																																					p.S934S		.											.	OGDH-228	0			c.G2802A						.						125	114	117					7																	44747186		2203	4300	6503	SO:0001819	synonymous_variant	4967	exon22			GCTGTCGCCATTC	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.2802G>A	7.37:g.44747186G>A		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	108	66	NM_002541	0	0	0	0	0	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			.		0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44747186	G	A	44747186	2	1	5	1	0	0	0	0	0	0	0	1	10878	1074	38	1		1	OGDH	7	44747186	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	633105	44747186	114391477	195	656											
PKD1L1	168507	bcgsc.ca	37	chr7	47840387	47840387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcagcccggggaaggCgtctgtgaaggtgccaggtg	17	9	1	1	rs13231277	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:47840387C>T	ENST00000289672.2	-	54	8103	c.8053G>A	c.(8053-8055)Gcc>Acc	p.A2685T	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2685			A -> T (in dbSNP:rs13231277).		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						CCGGGGAAGGCGTCTGTGAAG	0.572													C|||	583	0.116414	0.2239	0.0922	5008	,	,		16675	0.0357		0.1153	False		,,,				2504	0.0726				p.A2685T		.											.	PKD1L1-145	0			c.G8053A						.	C	,THR/ALA	1025,3381	379.7+/-323.4	116,793,1294	85	87	86		,8053	-9.6	0	7	dbSNP_121	86	977,7623	212.1+/-252.5	54,869,3377	yes	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,58	170,1662,4671	TT,TC,CC		11.3605,23.2637,15.3929	,possibly-damaging	,2685/2850	47840387	2002,11004	2203	4300	6503	SO:0001583	missense	168507	exon54			GGAAGGCGTCTGT	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.8053G>A	7.37:g.47840387C>T	ENSP00000289672:p.Ala2685Thr	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	180	8	NM_138295	0	0	0	0	0	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	249	0.11401098901098901	107	0.21747967479674796	39	0.10773480662983426	16	0.027972027972027972	87	0.11477572559366754	C	5.355	0.250713	0.10130	0.232637	0.113605	ENSG00000158683	ENST00000289672	T	0.19669	2.13	4.79	-9.59	0.00556	.	0.913079	0.08831	N	0.887252	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.25955	0.138	B	0.14023	0.01	T	0.34104	-0.9842	9	0.27785	T	0.31	-1.5221	8.4698	0.32977	0.1741:0.6512:0.0759:0.0988	rs13231277;rs17131818;rs52838274;rs60072826;rs13231277	2685	Q8TDX9	PK1L1_HUMAN	T	2685	ENSP00000289672:A2685T	ENSP00000289672:A2685T	A	-	1	0	PKD1L1	47806912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.536000	0.02208	-2.079000	0.00871	-0.311000	0.09066	GCC	C|0.858;T|0.142		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47840387	C	T	47840387	3	4	5	1	0	0	0	0	1	0	0	0	12003	768	27	1	512	1	PKD1L1	7	47840387	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3093201	47840387	111298276	196	657											
PION	54103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	76942815	76942815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtattaccggaggaagcCgcacaatgatactgaatttc	9	9	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:76942815C>T	ENST00000257626.7	-	28	2339	c.2261G>A	c.(2260-2262)cGg>cAg	p.R754Q	GSAP_ENST00000441833.2_Missense_Mutation_p.R75Q|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	754					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CGGAGGAAGCCGCACAATGAT	0.338																																					p.R754Q		.											.	PION-514	0			c.G2261A						.						106	103	104					7																	76942815		1848	4105	5953	SO:0001583	missense	54103	exon28			GGAAGCCGCACAA		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2261G>A	7.37:g.76942815C>T	ENSP00000257626:p.Arg754Gln	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	50	21	NM_017439	0	0	0	0	0	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679249	0.88542	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.20463	2.07	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.69823	2.125	0.49299	D	0.999779	D	0.89917	1.0	D	0.85130	0.997	T	0.39781	-0.9597	10	0.87932	D	0	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	754	A4D1B5	GSAP_HUMAN	Q	754;75	ENSP00000257626:R754Q	ENSP00000257626:R754Q	R	-	2	0	PION	76780751	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.349000	0.66010	2.861000	0.98227	0.655000	0.94253	CGG	.		0.338	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		T	76942815	C	T	76942815	3	4	5	1	0	0	0	0	1	0	0	0	11973	652	23	1	319	1	PION	7	76942815	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	29102428	76942815	82195848	197	658											
CACNA2D1	781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	81637024	81637024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttattttcaaattggcCggttatgttgaagaccggaa	10	6	2	2	rs377337212		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:81637024C>T	ENST00000356253.5	-	16	1666	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G471S|MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	471	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G471S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAAATTGGCCGGTTATGTTG	0.308																																					p.G471S		.											.	CACNA2D1-96	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A						.	C	SER/GLY	0,4406		0,0,2203	46	45	45		1411	5.6	1	7		45	1,8597	1.2+/-3.3	0,1,4298	no	missense	CACNA2D1	NM_000722.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	471/1092	81637024	1,13003	2203	4299	6502	SO:0001583	missense	781	exon16			ATTGGCCGGTTAT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1411G>A	7.37:g.81637024C>T	ENSP00000348589:p.Gly471Ser	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	95	34	NM_000722	0	0	0	0	0	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	13.45	2.241467	0.39598	0.0	1.16E-4	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.06528	3.3;3.29	5.59	5.59	0.84812	.	0.137705	0.52532	D	0.000061	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B	0.33748	0.423	B	0.26094	0.066	T	0.56159	-0.8025	10	0.15066	T	0.55	-14.6817	19.2053	0.93728	0.0:1.0:0.0:0.0	.	471	P54289-2	.	S	471	ENSP00000349320:G471S;ENSP00000348589:G471S	ENSP00000284088:G471S	G	-	1	0	CACNA2D1	81474960	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.038000	0.57318	2.626000	0.88956	0.585000	0.79938	GGC	.		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81637024	C	T	81637024	3	4	5	1	0	0	0	0	1	0	0	0	2555	652	23	1	1960	1	CACNA2D1	7	81637024	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4694209	81637024	77501639	198	659											
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	86415919	86415919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagcccaacgcgcgcGtcgtggtcctcttcatgcgc	12	15	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:86415919G>A	ENST00000361669.2	+	3	1910	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	GRM3_ENST00000439827.1_Missense_Mutation_p.V271I|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.V143I|GRM3_ENST00000394720.2_Missense_Mutation_p.V269I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	271					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.V271I(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)					CAACGCGCGCGTCGTGGTCCT	0.652																																					p.V271I	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	1	Substitution - Missense(1)	central_nervous_system(1)	c.G811A						.						44	50	48					7																	86415919		2203	4300	6503	SO:0001583	missense	2913	exon3			GCGCGCGTCGTGG		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.811G>A	7.37:g.86415919G>A	ENSP00000355316:p.Val271Ile	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	94	35	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226162	0.79576	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.82056	2.57	0.80722	D	1	B;B;B	0.23891	0.043;0.093;0.053	B;B;B	0.25140	0.034;0.058;0.036	D	0.83825	0.0249	10	0.54805	T	0.06	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	143;271;271	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	I	271;143;143;271;269	ENSP00000355316:V271I;ENSP00000405427:V143I;ENSP00000441407:V143I;ENSP00000398767:V271I;ENSP00000378209:V269I	ENSP00000355316:V271I	V	+	1	0	GRM3	86253855	1.000000	0.71417	0.919000	0.36401	0.998000	0.95712	7.921000	0.87530	2.885000	0.99019	0.655000	0.94253	GTC	.		0.652	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86415919	G	A	86415919	3	1	5	1	0	0	0	0	1	0	0	0	6825	1145	40	1	817	1	GRM3	7	86415919	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4778895	86415919	72722744	199	660											
TECPR1	25851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	97854151	97854151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgccacccctcctggtcCgtgccccccggaacgctgaa	9	19	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:97854151C>T	ENST00000447648.2	-	19	2951	c.2652G>A	c.(2650-2652)acG>acA	p.T884T	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.T886T			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	884					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						CCTCCTGGTCCGTGCCCCCCG	0.632																																					p.T884T		.											.	TECPR1-91	0			c.G2652A						.						21	25	24					7																	97854151		1987	4141	6128	SO:0001819	synonymous_variant	25851	exon19			CTGGTCCGTGCCC		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.2652G>A	7.37:g.97854151C>T		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	150	47	NM_015395	0	0	5	5	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																			.		0.632	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		T	97854151	C	T	97854151	2	4	5	1	0	0	0	0	0	0	0	1	15790	639	23	1		1	TECPR1	7	97854151	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	11438232	97854151	61284512	200	661											
TRRAP	8295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	98609726	98609726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaacggttctccgggaCgagatcattgcttggcacaa	11	10	2	2	rs548877968		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:98609726C>T	ENST00000359863.4	+	72	11537	c.11328C>T	c.(11326-11328)gaC>gaT	p.D3776D	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Silent_p.D3747D|TRRAP_ENST00000446306.3_Silent_p.D3765D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3776	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTCCGGGACGAGATCATTG	0.557													c|||	1	0.000199681	8e-04	0	5008	,	,		20242	0		0	False		,,,				2504	0				p.D3776D		.											.	TRRAP-923	0			c.C11328T						.						87	79	82					7																	98609726		2203	4300	6503	SO:0001819	synonymous_variant	8295	exon72			CCGGGACGAGATC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11328C>T	7.37:g.98609726C>T		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	232	79	NM_001244580	0	0	22	29	7	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	c	5.569	0.289910	0.10567	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.3	-6.71	0.01760	.	.	.	.	.	T	0.63570	0.2522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66952	-0.5793	4	.	.	.	.	16.4313	0.83844	0.0:0.3411:0.0:0.6589	.	.	.	.	M	3505	.	.	T	+	2	0	TRRAP	98447662	0.151000	0.22747	0.860000	0.33809	0.690000	0.40134	-0.496000	0.06436	-1.298000	0.02348	-1.349000	0.01238	ACG	.		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98609726	C	T	98609726	2	4	5	1	0	0	0	0	0	0	0	1	16649	535	19	1		1	TRRAP	7	98609726	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	755575	98609726	60528937	201	662											
SERPINE1	5054	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	100778833	100778833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagaacctgggaatgaccGacatgttcagacagtttcag	11	8	2	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:100778833G>A	ENST00000223095.4	+	6	1115	c.958G>A	c.(958-960)Gac>Aac	p.D320N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.D305N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	320					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGGAATGACCGACATGTTCAG	0.552																																					p.D320N		.											.	SERPINE1-652	0			c.G958A						.						97	95	95					7																	100778833		2203	4300	6503	SO:0001583	missense	5054	exon6			ATGACCGACATGT	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.958G>A	7.37:g.100778833G>A	ENSP00000223095:p.Asp320Asn	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	88	5	NM_000602	0	0	0	0	0	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871367	0.33069	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.25579	1.79;1.79	5.67	2.93	0.34026	Serpin domain (3);	0.176250	0.48767	N	0.000171	T	0.29652	0.0740	M	0.76938	2.355	0.47862	D	0.99953	P;P	0.39717	0.684;0.515	B;B	0.38194	0.24;0.267	T	0.05582	-1.0876	10	0.56958	D	0.05	.	9.5972	0.39580	0.2286:0.0:0.7714:0.0	.	305;320	F8WD53;P05121	.;PAI1_HUMAN	N	320;305;97	ENSP00000223095:D320N;ENSP00000396766:D305N	ENSP00000223095:D320N	D	+	1	0	SERPINE1	100565553	1.000000	0.71417	0.829000	0.32907	0.042000	0.13812	2.965000	0.49200	0.349000	0.23975	-1.036000	0.02392	GAC	.		0.552	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		A	100778833	G	A	100778833	3	1	5	1	0	0	0	0	1	0	0	0	14156	1058	37	1	976	1	SERPINE1	7	100778833	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2169107	100778833	58359830	202	663											
SPDYE6	0	bcgsc.ca	37	chr7	101989090	101989090	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttggagtcctcgtcGtcctcctccatgtcattggc	9	12	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:101989090G>A								Y_RNA (11708 upstream) : PRKRIP1 (15253 downstream)																							AGTCCTCGTCGTCCTCCTCCA	0.552																																					p.D261D		.											.	SPDYE6-1	0			c.C783T						.						1	1	1					7																	101989090		80	281	361	SO:0001628	intergenic_variant	729597	exon6			CTCGTCGTCCTCC																													7.37:g.101989090G>A		Somatic	1447	4		WXS	Illumina GAIIx	Phase_I	1622	118	NM_001146210	0	0	2	2	0		Silent	SNP		37																																																																																				.	0	0.552									A	101989090	G	A	101989090	1	1	5	0	1	0	0	0	0	0	0	0	15080	1136	40	1		1	SPDYE6	7	101989090	IGR	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1210257	101989090	57149573	203	664											
DNAJB9	4189	broad.mit.edu	37	chr7	108212318	108212318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcctttcacaagttgGccatgaagtaccaccctgac	9	12	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:108212318G>T	ENST00000249356.3	+	2	694	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	THAP5_ENST00000438865.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000313516.5_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	50	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCACAAGTTGGCCATGAAGTA	0.413																																					p.A50S		.											.	DNAJB9-226	0			c.G148T						.						99	107	105					7																	108212318		2203	4300	6503	SO:0001583	missense	4189	exon2			AAGTTGGCCATGA	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.148G>T	7.37:g.108212318G>T	ENSP00000249356:p.Ala50Ser	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	124	5	NM_012328	0	0	1	1	0		Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477236	0.96291	.	.	ENSG00000128590	ENST00000249356	T	0.36878	1.23	5.34	5.34	0.76211	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37686	-0.9695	9	.	.	.	.	18.035	0.89298	0.0:0.0:1.0:0.0	.	50	Q9UBS3	DNJB9_HUMAN	S	50	ENSP00000249356:A50S	.	A	+	1	0	DNAJB9	107999554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.483000	0.83821	0.563000	0.77884	GCC	.		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			T	108212318	G	T	108212318	3	4	5	1	0	0	0	0	1	0	0	0	4641	1203	42	3	150	3	DNAJB9	7	108212318	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6223228	108212318	50926345	204	665											
LMOD2	442721	ucsc.edu;bcgsc.ca	37	chr7	123302045	123302045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaagaagacagtgaCgaagaggaaagaacaattga	15	3	0	6			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:123302045C>T	ENST00000458573.2	+	2	562	c.405C>T	c.(403-405)gaC>gaT	p.D135D	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	135	Glu-rich.					cytoskeleton (GO:0005856)											aagaCAGTGACGAAGAGGAAA	0.398																																					p.D135D		.											.	LMOD2-68	0			c.C405T						.						50	50	50					7																	123302045		1926	4136	6062	SO:0001819	synonymous_variant	442721	exon2			CAGTGACGAAGAG	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.405C>T	7.37:g.123302045C>T		Somatic	129	2		WXS	Illumina GAIIx	Phase_I	160	107	NM_207163	0	0	0	0	0	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	CCDS47693.1																																																																																			.		0.398	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			T	123302045	C	T	123302045	2	4	5	1	0	0	0	0	0	0	0	1	8887	535	19	1		1	LMOD2	7	123302045	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	15089727	123302045	35836618	205	666											
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	133932369	133932369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctaatgggaaggatacGccctgatcacacactcctat	8	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:133932369G>A	ENST00000285928.2	+	17	2114	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	682						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGAAGGATACGCCCTGATCAC	0.388																																					p.R682H		.											.	LRGUK-227	0			c.G2045A						.						93	90	91					7																	133932369		2203	4300	6503	SO:0001583	missense	136332	exon17			GGATACGCCCTGA	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2045G>A	7.37:g.133932369G>A	ENSP00000285928:p.Arg682His	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	140	80	NM_144648	0	0	1	1	0	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638279	0.47153	.	.	ENSG00000155530	ENST00000285928	T	0.35789	1.29	5.83	4.95	0.65309	.	0.135865	0.49305	D	0.000142	T	0.22859	0.0552	N	0.22421	0.69	0.09310	N	1	D	0.54207	0.965	B	0.35182	0.197	T	0.13255	-1.0516	10	0.87932	D	0	-12.2739	13.8794	0.63674	0.0:0.8397:0.1603:0.0	.	682	Q96M69	LRGUK_HUMAN	H	682	ENSP00000285928:R682H	ENSP00000285928:R682H	R	+	2	0	LRGUK	133582909	0.090000	0.21635	0.085000	0.20634	0.803000	0.45373	2.473000	0.45145	1.466000	0.48025	-0.165000	0.13383	CGC	.		0.388	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		A	133932369	G	A	133932369	3	1	5	1	0	0	0	0	1	0	0	0	8978	1087	38	1	2111	1	LRGUK	7	133932369	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10630324	133932369	25206294	206	667											
NUP205	23165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	135323345	135323345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattgccagtcactcatgtTacagagttcccctaccttcc	5	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:135323345T>C	ENST00000285968.6	+	38	5332	c.5306T>C	c.(5305-5307)tTa>tCa	p.L1769S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1769					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						TCACTCATGTTACAGAGTTCC	0.398																																					p.L1769S		.											.	NUP205-207	0			c.T5306C						.						218	201	207					7																	135323345		2203	4300	6503	SO:0001583	missense	23165	exon38			TCATGTTACAGAG	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.5306T>C	7.37:g.135323345T>C	ENSP00000285968:p.Leu1769Ser	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	185	36	NM_015135	0	0	12	18	6	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	t	10.99	1.508423	0.27036	.	.	ENSG00000155561	ENST00000285968	T	0.30182	1.54	5.26	4.07	0.47477	.	0.320366	0.29722	N	0.011368	T	0.13798	0.0334	N	0.11560	0.145	0.53688	D	0.999971	B	0.02656	0.0	B	0.06405	0.002	T	0.11131	-1.0600	10	0.02654	T	1	-16.3696	11.1089	0.48221	0.1428:0.0:0.0:0.8572	.	1769	Q92621	NU205_HUMAN	S	1769	ENSP00000285968:L1769S	ENSP00000285968:L1769S	L	+	2	0	NUP205	134973885	0.998000	0.40836	0.132000	0.22025	0.925000	0.55904	5.260000	0.65490	0.797000	0.33971	0.377000	0.23210	TTA	.		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			C	135323345	T	C	135323345	3	2	5	1	0	0	0	0	1	0	0	0	10798	1764	61	4	5456	4	NUP205	7	135323345	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1390976	135323345	23815318	207	668											
ATP6V0A4	50617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	138417706	138417706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaggatgctgggggcGtgctgagatacatggacgtc	18	6	0	2	rs549185406		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:138417706G>A	ENST00000310018.2	-	17	2106	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	ATP6V0A4_ENST00000393054.1_Silent_p.H608H|ATP6V0A4_ENST00000353492.4_Silent_p.H608H	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	608					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCTGGGGGCGTGCTGAGATA	0.413													G|||	1	0.000199681	0	0.0014	5008	,	,		16881	0		0	False		,,,				2504	0				p.H608H		.											.	ATP6V0A4-91	0			c.C1824T						.						126	117	120					7																	138417706		2203	4300	6503	SO:0001819	synonymous_variant	50617	exon16			GGGGGCGTGCTGA	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1824C>T	7.37:g.138417706G>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	183	65	NM_130841	0	0	0	0	0	A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																			.		0.413	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138417706	G	A	138417706	2	1	5	1	0	0	0	0	0	0	0	1	1171	1136	40	1		1	ATP6V0A4	7	138417706	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3094361	138417706	20720957	208	669											
JHDM1D	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139818942	139818942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccagcaagtttttggctAcaaaccaacatatggcttca	6	10	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:139818942A>G	ENST00000397560.2	-	9	1314	c.1217T>C	c.(1216-1218)gTa>gCa	p.V406A	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V406A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		406					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTTTTGGCTACAAACCAACA	0.328																																					p.V406A		.											.	JHDM1D-91	0			c.T1217C						.						138	139	139					7																	139818942		1804	4072	5876	SO:0001583	missense	80853	exon9			TTGGCTACAAACC																												ENST00000397560.2:c.1217T>C	7.37:g.139818942A>G	ENSP00000380692:p.Val406Ala	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	69	25	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677420	0.68042	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.57436	0.4;0.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	L	0.33339	1.005	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60692	-0.7213	10	0.36615	T	0.2	-17.4038	16.277	0.82647	1.0:0.0:0.0:0.0	.	406	Q6ZMT4	KDM7_HUMAN	A	406	ENSP00000380692:V406A;ENSP00000006967:V406A	ENSP00000006967:V406A	V	-	2	0	JHDM1D	139465411	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.526000	0.81920	2.302000	0.77476	0.533000	0.62120	GTA	.		0.328	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			G	139818942	A	G	139818942	3	3	5	1	0	0	0	0	1	0	0	0	7975	391	14	4	1656	4	JHDM1D	7	139818942	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	1401236	139818942	19319721	209	670											
GSTK1	373156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142965205	142965205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgggctgcccatcaccGtggcccatgtggatggccaa	12	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:142965205G>A	ENST00000358406.5	+	7	630	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000479303.1_Missense_Mutation_p.V243M|GSTK1_ENST00000409500.3_Missense_Mutation_p.V175M|GSTK1_ENST00000443571.2_Missense_Mutation_p.V144M	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	187					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)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GCCCATCACCGTGGCCCATGT	0.527																																					p.V243M		.											.	GSTK1-90	0			c.G727A						.						327	329	329					7																	142965205		2203	4300	6503	SO:0001583	missense	373156	exon6			ATCACCGTGGCCC		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.559G>A	7.37:g.142965205G>A	ENSP00000351181:p.Val187Met	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	108	74	NM_001143679	0	0	79	199	120	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663455	0.88251	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	5.78	0.91487	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.91612	3.225	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;0.978;1.0	P;P;P;D	0.74023	0.905;0.74;0.759;0.982	D	0.87784	0.2614	9	0.62326	D	0.03	-45.8625	17.573	0.87940	0.0:0.0:1.0:0.0	.	175;144;243;187	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	M	175;144;187;243	.	ENSP00000351181:V187M	V	+	1	0	GSTK1	142675327	1.000000	0.71417	0.963000	0.40424	0.907000	0.53573	6.350000	0.73017	2.760000	0.94817	0.644000	0.83932	GTG	.		0.527	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		A	142965205	G	A	142965205	3	1	5	1	0	0	0	0	1	0	0	0	6863	1145	40	1	749	1	GSTK1	7	142965205	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3146263	142965205	16173458	210	671											
ZNF425	155054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	148801944	148801944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatgcccctcttcaggCggaagcaccggtcacactgc	9	17	4	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:148801944C>T	ENST00000378061.2	-	4	1151	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R340L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTCTTCAGGCGGAAGCACCG	0.662																																					p.R340H		.											.	ZNF425-136	1	Substitution - Missense(1)	lung(1)	c.G1019A						.						45	43	44					7																	148801944		2203	4300	6503	SO:0001583	missense	155054	exon4			TTCAGGCGGAAGC	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1019G>A	7.37:g.148801944C>T	ENSP00000367300:p.Arg340His	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	48	14	NM_001001661	0	0	0	0	0	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483390	0.84854	.	.	ENSG00000204947	ENST00000378061	T	0.15834	2.39	3.42	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.48877	1.53	0.09310	N	1	D	0.71674	0.998	D	0.65987	0.94	T	0.04767	-1.0928	9	0.56958	D	0.05	.	8.325	0.32151	0.0:0.8781:0.0:0.1219	.	340	Q6IV72	ZN425_HUMAN	H	340	ENSP00000367300:R340H	ENSP00000367300:R340H	R	-	2	0	ZNF425	148432877	0.000000	0.05858	0.823000	0.32752	0.991000	0.79684	-0.291000	0.08343	0.775000	0.33450	0.655000	0.94253	CGC	.		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148801944	C	T	148801944	3	4	5	1	0	0	0	0	1	0	0	0	17947	768	27	1	1243	1	ZNF425	7	148801944	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5836739	148801944	10336719	211	672											
SMARCD3	6604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150938652	150938652	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttggtcttcacatactGccacagggcctggacaatgg	11	12	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:150938652G>A	ENST00000262188.8	-	8	1275	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Nonsense_Mutation_p.Q276*|SMARCD3_ENST00000356800.2_Nonsense_Mutation_p.Q276*|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	289	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCACATACTGCCACAGGGCC	0.577																																					p.Q289X		.											.	SMARCD3-228	0			c.C865T						.						45	39	41					7																	150938652		2203	4300	6503	SO:0001587	stop_gained	6604	exon8			CATACTGCCACAG	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.865C>T	7.37:g.150938652G>A	ENSP00000262188:p.Gln289*	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	202	47	NM_001003801	0	0	109	124	15	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Nonsense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	41	8.848613	0.98976	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.9824	16.8808	0.86062	0.0:0.0:1.0:0.0	.	.	.	.	X	289;276;276;241	.	ENSP00000262188:Q289X	Q	-	1	0	SMARCD3	150569585	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	CAG	.		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		A	150938652	G	A	150938652	4	1	5	1	0	0	0	0	0	1	0	0	14824	1328	46	3	610	3	SMARCD3	7	150938652	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2136708	150938652	8200011	212	673											
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	154863297	154863297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaaggctgccaagttcCgcgtgggctccaggaagacc	12	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:154863297C>T	ENST00000287907.2	+	1	1264	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	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	230					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)	TGCCAAGTTCCGCGTGGGCTC	0.542																																					p.R230C		.											.	HTR5A-155	0			c.C688T						.						81	77	78					7																	154863297		2203	4300	6503	SO:0001583	missense	3361	exon1			AAGTTCCGCGTGG		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.688C>T	7.37:g.154863297C>T	ENSP00000287907:p.Arg230Cys	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	261	64	NM_024012	0	0	0	0	0	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336549	0.81801	.	.	ENSG00000157219	ENST00000287907	T	0.38887	1.11	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.84811	0.0790	10	0.87932	D	0	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	230	P47898	5HT5A_HUMAN	C	230	ENSP00000287907:R230C	ENSP00000287907:R230C	R	+	1	0	HTR5A	154494230	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.580000	0.67464	2.485000	0.83878	0.650000	0.86243	CGC	.		0.542	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		T	154863297	C	T	154863297	3	4	5	1	0	0	0	0	1	0	0	0	7477	652	23	1	690	1	HTR5A	7	154863297	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3924645	154863297	4275366	213	674											
RBM33	155435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	155534695	155534695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcgcgtcaccaccctcGcgggccgtggcgggttccag	15	16	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:155534695G>A	ENST00000401878.3	+	13	2430	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	744							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CACCACCCTCGCGGGCCGTGG	0.567																																					p.S744S		.											.	RBM33-23	0			c.G2232A						.						63	65	64					7																	155534695		2203	4300	6503	SO:0001819	synonymous_variant	155435	exon13			ACCCTCGCGGGCC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2232G>A	7.37:g.155534695G>A		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	336	81	NM_053043	0	0	1	1	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.786075	0.02907	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.09185	-1.0686	4	.	.	.	.	4.7985	0.13284	0.355:0.4125:0.0938:0.1388	.	.	.	.	H	516	.	.	R	+	2	0	RBM33	155227456	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.056000	0.03489	-2.263000	0.00689	-0.226000	0.12346	CGC	.		0.567	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		A	155534695	G	A	155534695	2	1	5	1	0	0	0	0	0	0	0	1	13175	1074	38	1		1	RBM33	7	155534695	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	671398	155534695	3603968	214	675											
SHH	6469	hgsc.bcm.edu	37	chr7	155596413	155596413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgatttggccgccacCgagttctctgcgggtgagga	13	14	1	1	rs9333633	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:155596413C>T	ENST00000297261.2	-	3	720	c.570G>A	c.(568-570)tcG>tcA	p.S190S	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	190					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCGCCACCGAGTTCTCTG	0.687													C|||	24	0.00479233	0	0.0014	5008	,	,		10722	0		0.003	False		,,,				2504	0.0204				p.S190S		.											.	SHH-1134	0			c.G570A						.	C		1,4275		0,1,2137	12	14	14		570	-1.5	1	7	dbSNP_119	14	26,8494		0,26,4234	no	coding-synonymous	SHH	NM_000193.2		0,27,6371	TT,TC,CC		0.3052,0.0234,0.211		190/463	155596413	27,12769	2138	4260	6398	SO:0001819	synonymous_variant	6469	exon3			CGCCACCGAGTTC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.570G>A	7.37:g.155596413C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	29	5	NM_000193	0	0	5	6	1	A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	CCDS5942.1																																																																																			C|0.996;T|0.004		0.687	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		T	155596413	C	T	155596413	2	4	5	1	0	0	0	0	0	0	0	1	14324	639	23	1		1	SHH	7	155596413	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	61718	155596413	3542250	215	676											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742868	156742868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccaggaagccgcggcCgtcccgggtcaaggccaagg	15	16	1	0	rs199647631		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:156742868C>A	ENST00000275820.3	+	1	452	c.437C>A	c.(436-438)cCg>cAg	p.P146Q		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	146	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)		AAGCCGCGGCCGTCCCGGGTC	0.736													.|||	1	0.000199681	0	0.0014	5008	,	,		11083	0		0	False		,,,				2504	0				p.P146Q		.											.	NOM1-90	0			c.C437A						.	C	GLN/PRO	0,4074		0,0,2037	6	8	8		437	3	0	7		8	4,8140		0,4,4068	yes	missense	NOM1	NM_138400.1	76	0,4,6105	AA,AC,CC		0.0491,0.0,0.0327	benign	146/861	156742868	4,12214	2037	4072	6109	SO:0001583	missense	64434	exon1			CGCGGCCGTCCCG	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.437C>A	7.37:g.156742868C>A	ENSP00000275820:p.Pro146Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.91	1.781120	0.31502	0.0	4.91E-4	ENSG00000146909	ENST00000275820	T	0.11821	2.74	3.93	3.03	0.35002	.	2.317640	0.01636	N	0.023816	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	P	0.45768	0.866	B	0.41691	0.364	T	0.22243	-1.0222	10	0.15952	T	0.53	-2.2662	3.9911	0.09537	0.0:0.5886:0.214:0.1974	.	146	Q5C9Z4	NOM1_HUMAN	Q	146	ENSP00000275820:P146Q	ENSP00000275820:P146Q	P	+	2	0	NOM1	156435629	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.325000	0.07976	0.842000	0.35045	0.650000	0.86243	CCG	C|0.999;A|0.000		0.736	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156742868	C	A	156742868	3	1	5	1	0	0	0	0	1	0	0	0	10569	652	23	2	439	2	NOM1	7	156742868	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1146455	156742868	2395795	216	677											
UBE3C	9690	broad.mit.edu;bcgsc.ca	37	chr7	157000478	157000478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgccttcgagatgcatGcctggggatcatcaagttgg	13	9	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:157000478G>A	ENST00000348165.5	+	13	2018	c.1658G>A	c.(1657-1659)tGc>tAc	p.C553Y		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	553					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGATGCATGCCTGGGGATC	0.393																																					p.C553Y		.											.	UBE3C-704	0			c.G1658A						.						136	129	132					7																	157000478		2203	4300	6503	SO:0001583	missense	9690	exon13			ATGCATGCCTGGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1658G>A	7.37:g.157000478G>A	ENSP00000309198:p.Cys553Tyr	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	165	6	NM_014671	0	0	2	2	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067765	0.76301	.	.	ENSG00000009335	ENST00000348165	T	0.48522	0.81	5.46	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.74023	0.898;0.982	T	0.68221	-0.5466	10	0.54805	T	0.06	-24.8205	14.6094	0.68504	0.0717:0.0:0.9283:0.0	.	553;553	Q15386;Q15386-2	UBE3C_HUMAN;.	Y	553	ENSP00000309198:C553Y	ENSP00000309198:C553Y	C	+	2	0	UBE3C	156693239	1.000000	0.71417	0.827000	0.32855	0.805000	0.45488	7.029000	0.76477	2.556000	0.86216	0.655000	0.94253	TGC	.		0.393	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	157000478	G	A	157000478	3	1	5	1	0	0	0	0	1	0	0	0	16930	1319	46	3	1708	3	UBE3C	7	157000478	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	257610	157000478	2138185	217	678											
UBE3C	9690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	157013470	157013470	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcagtccaccctggacGgtgagttctctaggacacag	12	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr7:157013470G>A	ENST00000348165.5	+	15	2362	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	668					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CACCCTGGACGGTGAGTTCTC	0.493																																					p.V668M		.											.	UBE3C-704	0			c.G2002A						.						80	68	72					7																	157013470		2203	4300	6503	SO:0001630	splice_region_variant	9690	exon15			CTGGACGGTGAGT	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2002+1G>A	7.37:g.157013470G>A		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	125	15	NM_014671	0	0	0	0	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129589	0.77549	.	.	ENSG00000009335	ENST00000348165	T	0.43688	0.94	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.36672	1.1	0.80722	D	1	P	0.42556	0.783	B	0.31812	0.136	T	0.22977	-1.0201	10	0.46703	T	0.11	.	19.1126	0.93323	0.0:0.0:1.0:0.0	.	668	Q15386	UBE3C_HUMAN	M	668	ENSP00000309198:V668M	ENSP00000309198:V668M	V	+	1	0	UBE3C	156706231	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.924000	0.92827	2.591000	0.87537	0.655000	0.94253	GTG	.		0.493	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	Missense_Mutation	A	157013470	G	A	157013470	5	1	5	1	0	0	0	0	0	0	1	0	16930	1130	39	1	2060	1	UBE3C	7	157013470	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	12992	157013470	2125193	218	679											
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	3047597	3047597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccgtatctgggctcGgggacagagctgcattgggt	14	11	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:3047597G>A	ENST00000520002.1	-	35	5793	c.5238C>T	c.(5236-5238)ccC>ccT	p.P1746P	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.P1745P|CSMD1_ENST00000539096.1_Silent_p.P1745P|CSMD1_ENST00000602723.1_Silent_p.P1746P|CSMD1_ENST00000400186.3_Silent_p.P1746P|CSMD1_ENST00000542608.1_Silent_p.P1745P|CSMD1_ENST00000602557.1_Silent_p.P1746P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1746	Sushi 10. {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)		ATCTGGGCTCGGGGACAGAGC	0.562																																					p.P1745P		.											.	CSMD1-86	0			c.C5235T						.						55	62	60					8																	3047597		2004	4170	6174	SO:0001819	synonymous_variant	64478	exon34			GGGCTCGGGGACA			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.5238C>T	8.37:g.3047597G>A		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	126	43	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	8.447	0.852099	0.17034	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2406	0.01962	0.3948:0.2595:0.1146:0.2311	.	.	.	.	X	1226	.	.	R	-	1	2	CSMD1	3035004	0.000000	0.05858	0.207000	0.23584	0.859000	0.49053	-3.108000	0.00601	-2.421000	0.00563	-0.385000	0.06624	CGA	.		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3047597	G	A	3047597	2	1	5	1	0	0	0	0	0	0	0	1	3953	1103	39	1		1	CSMD1	8	3047597	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		3047597	143316425	219	680											
CSMD1	64478	broad.mit.edu;bcgsc.ca	37	chr8	3432588	3432588	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggatccacatgttctcGctggaaacacatagaaacga	9	9	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:3432588G>A	ENST00000520002.1	-	11	1781	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CSMD1_ENST00000537824.1_Splice_Site_p.A408V|CSMD1_ENST00000539096.1_Splice_Site_p.A408V|CSMD1_ENST00000602723.1_Splice_Site_p.A409V|CSMD1_ENST00000400186.3_Splice_Site_p.A409V|CSMD1_ENST00000542608.1_Splice_Site_p.A408V|CSMD1_ENST00000602557.1_Splice_Site_p.A409V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	409	Sushi 2. {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)		ACATGTTCTCGCTGGAAACAC	0.413																																					p.A408V		.											.	CSMD1-86	0			c.C1223T						.						57	65	62					8																	3432588		2027	4176	6203	SO:0001630	splice_region_variant	64478	exon10			GTTCTCGCTGGAA			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.1226-1C>T	8.37:g.3432588G>A		Somatic	107	1		WXS	Illumina GAIIx	Phase_I	90	28	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	9.373	1.070940	0.20147	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.06	5.06	0.68205	.	.	.	.	.	T	0.33177	0.0854	N	0.21617	0.685	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	T	0.04373	-1.0956	9	0.14656	T	0.56	.	17.2099	0.86928	0.0:0.0:1.0:0.0	.	409	E5RIG2	.	V	409;409;271;408;408;408	ENSP00000383047:A409V;ENSP00000430733:A409V;ENSP00000441462:A408V;ENSP00000446243:A408V;ENSP00000441675:A408V	ENSP00000320445:A271V	A	-	2	0	CSMD1	3419996	1.000000	0.71417	0.844000	0.33320	0.403000	0.30841	3.964000	0.56780	2.343000	0.79666	0.655000	0.94253	GCG	.		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	A	3432588	G	A	3432588	5	1	5	1	0	0	0	0	0	0	1	0	3953	1101	38	1	9528	1	CSMD1	8	3432588	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	384991	3432588	142931434	220	681											
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	10466464	10466464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagtgctcgtggggtccGtgtgggtcttgccaggggcc	17	11	1	0	rs370477638		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:10466464G>A	ENST00000382483.3	-	4	5367	c.5144C>T	c.(5143-5145)aCg>aTg	p.T1715M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1795					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGTGGGGTCCGTGTGGGTCTT	0.657																																					p.T1715M		.											.	RP1L1-139	0			c.C5144T						.	A	MET/THR	1,4011		0,1,2005	76	85	82		5144	-8.3	0	8		82	2,8342		0,2,4170	no	missense	RP1L1	NM_178857.5	81	0,3,6175	AA,AG,GG		0.024,0.0249,0.0243	benign	1715/2401	10466464	3,12353	2006	4172	6178	SO:0001583	missense	94137	exon4			GGGTCCGTGTGGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5144C>T	8.37:g.10466464G>A	ENSP00000371923:p.Thr1715Met	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	76	23	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	g	9.121	1.009081	0.19199	2.49E-4	2.4E-4	ENSG00000183638	ENST00000382483	T	0.03663	3.85	4.17	-8.34	0.00988	.	1.393210	0.05272	N	0.517776	T	0.01592	0.0051	N	0.03608	-0.345	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.49123	-0.8972	10	0.39692	T	0.17	2.2517	7.9741	0.30145	0.5126:0.3017:0.1857:0.0	.	1715	A6NKC6	.	M	1715	ENSP00000371923:T1715M	ENSP00000371923:T1715M	T	-	2	0	RP1L1	10503874	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	0.292000	0.19011	-1.425000	0.01997	-1.402000	0.01139	ACG	.		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10466464	G	A	10466464	3	1	5	1	0	0	0	0	1	0	0	0	13578	1145	40	1	2062	1	RP1L1	8	10466464	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7033876	10466464	135897558	221	682											
NUDT18	79873	bcgsc.ca	37	chr8	21965113	21965113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgccacccctctgctccaTagggtcgaggccacaggcag	11	16	1	0	rs3739435	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:21965113T>C	ENST00000309188.6	-	5	788	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Missense_Mutation_p.M147V	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	224				M -> V (in Ref. 1; BAB15376/BAC85853). {ECO:0000305}.	dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CTCTGCTCCATAGGGTCGAGG	0.617													T|||	2775	0.554113	0.525	0.6614	5008	,	,		18738	0.619		0.4563	False		,,,				2504	0.5511				p.M224V		.											.	.	0			c.A670G						.	T	VAL/MET	2182,2088		560,1062,513	60	67	65		672	-2.2	0	8	dbSNP_107	65	3870,4608		898,2074,1267	no	missense	NUDT18	NM_024815.3	21	1458,3136,1780	CC,CT,TT		45.6476,48.8993,47.4741	benign	224/324	21965113	6052,6696	2135	4239	6374	SO:0001583	missense	79873	exon5			GCTCCATAGGGTC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.670A>G	8.37:g.21965113T>C	ENSP00000307852:p.Met224Val	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	131	5	NM_024815	0	0	5	5	0	Q8IZ75|Q9H687	Missense_Mutation	SNP	ENST00000309188.6	37		1179|1179	0.5398351648351648|0.5398351648351648	245|245	0.49796747967479676|0.49796747967479676	223|223	0.6160220994475138|0.6160220994475138	345|345	0.6031468531468531|0.6031468531468531	366|366	0.48284960422163586|0.48284960422163586	T|T	1.637|1.637	-0.517536|-0.517536	0.04171|0.04171	0.511007|0.511007	0.456476|0.456476	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|.	.|.	.|.	5.38|5.38	-2.23|-2.23	0.06930|0.06930	.|.	0.810801|.	0.11595|.	N|.	0.548297|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43540|0.43540	-0.9385|-0.9385	5|3	0.24483|.	T|.	0.36|.	-5.4957|-5.4957	4.9963|4.9963	0.14242|0.14242	0.2473:0.2275:0.0:0.5252|0.2473:0.2275:0.0:0.5252	rs3739435;rs52804017;rs60999375;rs3739435|rs3739435;rs52804017;rs60999375;rs3739435	.|.	.|.	.|.	V|C	147;224|259	.|.	ENSP00000307852:M224V|.	M|Y	-|-	1|2	0|0	NUDT18|NUDT18	22021058|22021058	0.000000|0.000000	0.05858|0.05858	0.033000|0.033000	0.17914|0.17914	0.244000|0.244000	0.25665|0.25665	-0.416000|-0.416000	0.07097|0.07097	-0.488000|-0.488000	0.06726|0.06726	-2.215000|-2.215000	0.00298|0.00298	ATG|TAT	T|0.476;C|0.524		0.617	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		C	21965113	T	C	21965113	3	2	5	1	0	0	0	0	1	0	0	0	10774	1406	49	4	305	4	NUDT18	8	21965113	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	11498649	21965113	124398909	222	683											
SORBS3	10174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22421834	22421834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagacaatgtctggacGgaagagtcctggaaccagtt	12	7	1	2	rs201952170		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:22421834G>A	ENST00000240123.7	+	9	1097	c.714G>A	c.(712-714)acG>acA	p.T238T	SORBS3_ENST00000428103.1_5'Flank|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	238					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.T238T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ATGTCTGGACGGAAGAGTCCT	0.582													G|||	1	0.000199681	0	0	5008	,	,		20757	0.001		0	False		,,,				2504	0				p.T238T		.											.	SORBS3-90	1	Substitution - coding silent(1)	lung(1)	c.G714A						.						61	59	60					8																	22421834		2203	4300	6503	SO:0001819	synonymous_variant	10174	exon9			CTGGACGGAAGAG		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.714G>A	8.37:g.22421834G>A		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	162	104	NM_005775	0	0	0	0	0	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	CCDS6031.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.212	-1.035852	0.02029	.	.	ENSG00000120896	ENST00000524057	.	.	.	4.43	-8.85	0.00799	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.42527	D	0.993025	.	.	.	.	.	.	T	0.46789	-0.9166	4	.	.	.	-0.1669	4.5833	0.12269	0.1813:0.1195:0.5815:0.1177	.	.	.	.	R	175	.	.	G	+	1	0	SORBS3	22477779	0.004000	0.15560	0.506000	0.27664	0.020000	0.10135	-2.560000	0.00921	-1.065000	0.03168	-1.264000	0.01445	GGA	G|0.999;A|0.000		0.582	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		A	22421834	G	A	22421834	2	1	5	1	0	0	0	0	0	0	0	1	14974	1103	39	1		1	SORBS3	8	22421834	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	456721	22421834	123942188	223	684											
LOXL2	4017	broad.mit.edu;bcgsc.ca	37	chr8	23174525	23174525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaggccacgtcctcccCgtcgtggcggcagtgcgcca	16	16	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:23174525C>T	ENST00000389131.3	-	9	1942	c.1573G>A	c.(1573-1575)Ggg>Agg	p.G525R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	525	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACGTCCTCCCCGTCGTGGCGG	0.652																																					p.G525R		.											.	LOXL2-272	0			c.G1573A						.						65	58	60					8																	23174525		2203	4300	6503	SO:0001583	missense	4017	exon9			CCTCCCCGTCGTG	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.1573G>A	8.37:g.23174525C>T	ENSP00000373783:p.Gly525Arg	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	221	11	NM_002318	0	0	0	0	0	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732431	0.89482	.	.	ENSG00000134013	ENST00000389131	T	0.35605	1.3	5.39	5.39	0.77823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.171118	0.51477	D	0.000092	T	0.64057	0.2564	M	0.79926	2.475	0.58432	D	0.999996	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.749	T	0.66424	-0.5927	10	0.56958	D	0.05	.	18.0971	0.89493	0.0:1.0:0.0:0.0	.	525;525	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	R	525	ENSP00000373783:G525R	ENSP00000373783:G525R	G	-	1	0	LOXL2	23230470	0.999000	0.42202	0.835000	0.33067	0.594000	0.36715	6.076000	0.71267	2.678000	0.91216	0.655000	0.94253	GGG	.		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174525	C	T	23174525	3	4	5	1	0	0	0	0	1	0	0	0	8935	652	23	1	775	1	LOXL2	8	23174525	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	752691	23174525	123189497	224	685											
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	35579761	35579761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgacattgctttgtactCgggcttgggtgctgccgtcg	14	11	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:35579761C>T	ENST00000404895.2	+	9	1479	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	UNC5D_ENST00000420357.1_Missense_Mutation_p.S317L|UNC5D_ENST00000287272.2_Missense_Mutation_p.S328L|UNC5D_ENST00000453357.2_Missense_Mutation_p.S379L|UNC5D_ENST00000416672.1_Missense_Mutation_p.S389L|UNC5D_ENST00000449677.1_5'Flank	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	384					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)		GCTTTGTACTCGGGCTTGGGT	0.517																																					p.S384L		.											.	UNC5D-96	0			c.C1151T						.						244	217	226					8																	35579761		2203	4300	6503	SO:0001583	missense	137970	exon9			TGTACTCGGGCTT	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.1151C>T	8.37:g.35579761C>T	ENSP00000385143:p.Ser384Leu	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	222	148	NM_080872	0	0	0	0	0	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125908	0.77436	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.53640	0.64;1.08;1.11;0.69;0.61	5.71	5.71	0.89125	.	0.053632	0.85682	D	0.000000	T	0.65780	0.2724	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.992	T	0.64529	-0.6386	10	0.54805	T	0.06	-9.7215	19.4428	0.94827	0.0:1.0:0.0:0.0	.	389;379;384	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	384;317;328;389;379	ENSP00000385143:S384L;ENSP00000392739:S317L;ENSP00000287272:S328L;ENSP00000412652:S389L;ENSP00000394303:S379L	ENSP00000287272:S328L	S	+	2	0	UNC5D	35699303	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.742000	0.68646	2.694000	0.91930	0.650000	0.86243	TCG	.		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			T	35579761	C	T	35579761	3	4	5	1	0	0	0	0	1	0	0	0	17044	893	31	1	1185	1	UNC5D	8	35579761	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	12405236	35579761	110784261	225	686											
UNC5D	137970	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	35588557	35588557	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttactcataccacacggtgCcatcccagaggagaattctt	7	13	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:35588557C>G	ENST00000404895.2	+	11	2037	c.1709C>G	c.(1708-1710)gCc>gGc	p.A570G	UNC5D_ENST00000420357.1_Missense_Mutation_p.A503G|UNC5D_ENST00000287272.2_Missense_Mutation_p.A501G|UNC5D_ENST00000453357.2_Missense_Mutation_p.A565G|UNC5D_ENST00000416672.1_Missense_Mutation_p.A575G|UNC5D_ENST00000449677.1_Missense_Mutation_p.A146G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	570	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACACGGTGCCATCCCAGAG	0.428																																					p.A570G		.											.	UNC5D-96	0			c.C1709G						.						95	94	94					8																	35588557		2203	4300	6503	SO:0001583	missense	137970	exon11			ACGGTGCCATCCC	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.1709C>G	8.37:g.35588557C>G	ENSP00000385143:p.Ala570Gly	Somatic	143	1		WXS	Illumina GAIIx	Phase_I	111	73	NM_080872	0	0	0	2	2	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632472	0.46944	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.79	5.79	0.91817	ZU5 (2);	0.046598	0.85682	D	0.000000	T	0.56949	0.2020	M	0.68317	2.08	0.80722	D	1	B;B;B	0.21309	0.054;0.009;0.031	B;B;B	0.26416	0.069;0.006;0.01	T	0.55617	-0.8113	10	0.66056	D	0.02	-24.3952	18.2119	0.89873	0.0:1.0:0.0:0.0	.	146;565;570	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	G	570;503;501;575;565;146	ENSP00000385143:A570G;ENSP00000392739:A503G;ENSP00000287272:A501G;ENSP00000412652:A575G;ENSP00000394303:A565G;ENSP00000397211:A146G	ENSP00000287272:A501G	A	+	2	0	UNC5D	35708099	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.307000	0.59123	2.746000	0.94184	0.655000	0.94253	GCC	.		0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			G	35588557	C	G	35588557	3	3	5	1	0	0	0	0	1	0	0	0	17044	739	26	3	1751	3	UNC5D	8	35588557	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8796	35588557	110775465	226	687											
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	41561586	41561586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgtttggggaagcaccGtttttcagaagcagagtcac	11	10	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:41561586G>A	ENST00000347528.4	-	20	2351	c.2268C>T	c.(2266-2268)aaC>aaT	p.N756N	ANK1_ENST00000289734.7_Silent_p.N756N|ANK1_ENST00000352337.4_Silent_p.N756N|ANK1_ENST00000396945.1_Silent_p.N756N|ANK1_ENST00000265709.8_Silent_p.N789N|ANK1_ENST00000379758.2_Silent_p.N756N|ANK1_ENST00000396942.1_Silent_p.N756N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	756	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)			GGGAAGCACCGTTTTTCAGAA	0.557																																					p.N789N		.											.	ANK1-716	0			c.C2367T						.						138	123	128					8																	41561586		2203	4300	6503	SO:0001819	synonymous_variant	286	exon20			AGCACCGTTTTTC	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.2268C>T	8.37:g.41561586G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	99	59	NM_001142446	0	0	0	0	0	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351142	0.01256	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-7.51	0.01346	.	.	.	.	.	T	0.64724	0.2624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69409	-0.5153	4	.	.	.	.	17.278	0.87121	0.4973:0.0:0.5027:0.0	.	.	.	.	W	70	.	.	R	-	1	2	ANK1	41680743	0.023000	0.18921	0.016000	0.15963	0.000000	0.00434	-0.487000	0.06505	-1.704000	0.01407	-2.025000	0.00428	CGG	.		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41561586	G	A	41561586	2	1	5	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41561586	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5973029	41561586	104802436	227	688											
OPRK1	4986	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	54147371	54147371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagatgccaacagatgaCgacagcagccagatgcagat	12	10	0	5	rs200269505		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:54147371C>T	ENST00000265572.3	-	3	855	c.558G>A	c.(556-558)tcG>tcA	p.S186S	OPRK1_ENST00000520287.1_Silent_p.S186S|OPRK1_ENST00000524278.1_Silent_p.S97S|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	186					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAACAGATGACGACAGCAGCC	0.483																																					p.S186S		.											.	OPRK1-70	0			c.G558A						.						112	103	106					8																	54147371		2203	4300	6503	SO:0001819	synonymous_variant	4986	exon3			AGATGACGACAGC		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.558G>A	8.37:g.54147371C>T		Somatic	185	1		WXS	Illumina GAIIx	Phase_I	216	69	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			.		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			T	54147371	C	T	54147371	2	4	5	1	0	0	0	0	0	0	0	1	10924	523	19	1		1	OPRK1	8	54147371	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	12585785	54147371	92216651	228	689											
OPRK1	4986	hgsc.bcm.edu	37	chr8	54163562	54163562	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcgcaggtagggccCggctccccgcggaagatctg	17	14	1	1	rs1051660	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6	9	8		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		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.36G>T	8.37:g.54163562C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54163562	C	A	54163562	2	1	5	1	0	0	0	0	0	0	0	1	10924	639	23	2		2	OPRK1	8	54163562	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	16191	54163562	92200460	229	690											
BHLHE22	27319	hgsc.bcm.edu	37	chr8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcctcgtcgccccTgggctgcttcgagccggctg	12	18	0	0	rs62519835	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4	5	4		185	2	1	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		A	65493532	T	A	65493532	3	1	5	1	0	0	0	0	1	0	0	0	1423	1580	55	5	187	5	BHLHE22	8	65493532	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	11329970	65493532	80870490	230	691											
VCPIP1	80124	hgsc.bcm.edu	37	chr8	67579170	67579170	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcggcggcaacggaggCggcggcggcggcggctgaga	24	10	0	1	rs76957378		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:67579170C>A	ENST00000310421.4	-	1	282	c.24G>T	c.(22-24)ccG>ccT	p.P8P	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_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	8	Pro-rich.				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)			gcaacggaggcggcggcggcg	0.692																																					p.P8P	NSCLC(179;265 2915 6144 43644)	.											.	VCPIP1-662	0			c.G24T						.						5	7	6					8																	67579170		1863	3850	5713	SO:0001819	synonymous_variant	80124	exon1			CGGAGGCGGCGGC	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.24G>T	8.37:g.67579170C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	27	19	NM_025054	0	0	0	0	0	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																			.		0.692	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67579170	C	A	67579170	2	1	5	1	0	0	0	0	0	0	0	1	17190	755	27	2		2	VCPIP1	8	67579170	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2085638	67579170	78784852	231	692											
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	106814998	106814998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggacggcaaagtgtttccGaatccagaaagcgaacgaaa	11	9	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:106814998G>A	ENST00000407775.2	+	8	2938	c.2688G>A	c.(2686-2688)ccG>ccA	p.P896P	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.P764P|ZFPM2_ENST00000520492.1_Silent_p.P764P|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.P627P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	896					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P896P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGTGTTTCCGAATCCAGAAA	0.453																																					p.P896P		.											.	ZFPM2-139	1	Substitution - coding silent(1)	large_intestine(1)	c.G2688A						.						47	46	46					8																	106814998		1942	4139	6081	SO:0001819	synonymous_variant	23414	exon8			GTTTCCGAATCCA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2688G>A	8.37:g.106814998G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	55	10	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																			.		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106814998	G	A	106814998	2	1	5	1	0	0	0	0	0	0	0	1	17706	1045	37	1		1	ZFPM2	8	106814998	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	39235828	106814998	39549024	232	693											
SYBU	55638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110587864	110587864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtcagccccttccccCgtgacctgctcttccagaga	7	19	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:110587864C>T	ENST00000422135.1	-	8	1778	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	SYBU_ENST00000419099.1_Silent_p.T420T|SYBU_ENST00000528647.1_Silent_p.T420T|SYBU_ENST00000528331.1_Silent_p.T302T|SYBU_ENST00000408908.2_Silent_p.T421T|SYBU_ENST00000446070.2_Silent_p.T420T|SYBU_ENST00000533065.1_Silent_p.T302T|SYBU_ENST00000276646.9_Silent_p.T421T|SYBU_ENST00000532779.1_Silent_p.T353T|SYBU_ENST00000408889.3_Silent_p.T302T|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000424158.2_Silent_p.T426T|SYBU_ENST00000529175.1_Silent_p.T215T|SYBU_ENST00000399066.3_Silent_p.T418T|SYBU_ENST00000529690.1_Silent_p.T291T|SYBU_ENST00000433638.1_Silent_p.T421T|SYBU_ENST00000440310.1_Silent_p.T421T|SYBU_ENST00000533895.1_Silent_p.T420T|SYBU_ENST00000533171.1_Silent_p.T421T	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	421					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCCCTTCCCCCGTGACCTGCT	0.522																																					p.T421T		.											.	SYBU-227	0			c.G1263A						.						117	116	116					8																	110587864		1973	4154	6127	SO:0001819	synonymous_variant	55638	exon8			TTCCCCCGTGACC	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1263G>A	8.37:g.110587864C>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	109	34	NM_001099752	0	0	26	32	6	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																			.		0.522	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		T	110587864	C	T	110587864	2	4	5	1	0	0	0	0	0	0	0	1	15474	639	23	1		1	SYBU	8	110587864	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3772866	110587864	35776158	233	694											
PHF20L1	51105	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	133823330	133823330	+	Frame_Shift_Del	DEL	A	A	-													tgttggggttgatggtgctgAaaaaaaggaagactacaatg							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:133823330delA	ENST00000395386.2	+	9	1186	c.887delA	c.(886-888)gaafs	p.E296fs	PHF20L1_ENST00000395376.1_Frame_Shift_Del_p.E301fs|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Frame_Shift_Del_p.E270fs|PHF20L1_ENST00000395379.1_Frame_Shift_Del_p.E296fs|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.E271fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	296							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)			GATGGTGCTGAAAAAAAGGAA	0.378																																					p.E296fs		.											.	PHF20L1-92	0			c.887delA						.						145	155	152					8																	133823330		2203	4300	6503	SO:0001589	frameshift_variant	51105	exon9			GTGCTGAAAAAAA	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.887delA	8.37:g.133823330delA	ENSP00000378784:p.Glu296fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	71	43	NM_016018	0	0	0	0	0	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	ENST00000395386.2	37	CCDS6367.2																																																																																			.		0.378	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		-	133823330	A	-	133823330	7	5	5	1	0	1	0	1	0	0	0	0	11871	246	9	0	917	0	PHF20L1	8	133823330	Frame_Shift_Del	DEL	A	TCGA-OR-A5J5-01A-11D-A29I-10	23235466	133823330	12540692	234	695											
ZFAT	57623	broad.mit.edu	37	chr8	135649757	135649757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgataatgcagatgtgcttcCgcagctggcgcgtgttggag	15	9	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:135649757C>T	ENST00000377838.3	-	3	569	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	ZFAT_ENST00000520727.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R120Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R120Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.R132Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	132					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GATGTGCTTCCGCAGCTGGCG	0.542																																					p.R132Q		.											.	ZFAT-90	0			c.G395A						.						90	96	94					8																	135649757		2120	4230	6350	SO:0001583	missense	57623	exon3			TGCTTCCGCAGCT	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.395G>A	8.37:g.135649757C>T	ENSP00000367069:p.Arg132Gln	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	174	5	NM_001174157	0	0	0	0	0	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027566	0.54683	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.48201	2.95;2.88;2.89;2.88;2.88;2.92;0.82;1.6	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.077889	0.39544	N	0.001322	T	0.41282	0.1152	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63880	0.989;0.968;0.993;0.989	B;B;P;B	0.52909	0.443;0.194;0.713;0.443	T	0.23976	-1.0173	10	0.13470	T	0.59	-25.5669	8.5778	0.33609	0.0:0.763:0.1547:0.0823	.	132;120;120;132	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	120;120;120;132;120;120;132;120;70;120	ENSP00000427879:R120Q;ENSP00000427831:R120Q;ENSP00000394501:R120Q;ENSP00000367069:R132Q;ENSP00000428483:R120Q;ENSP00000429091:R132Q;ENSP00000429983:R70Q;ENSP00000428192:R120Q	ENSP00000326997:R120Q	R	-	2	0	ZFAT	135718939	0.043000	0.20138	0.949000	0.38748	0.996000	0.88848	1.766000	0.38491	2.402000	0.81655	0.561000	0.74099	CGG	.		0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135649757	C	T	135649757	3	4	5	1	0	0	0	0	1	0	0	0	17680	652	23	1	3392	1	ZFAT	8	135649757	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1826427	135649757	10714265	235	696											
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	139278014	139278014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggtacctcttcattccGgtataagatctgaaagaccc	8	10	3	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:139278014G>A	ENST00000395297.1	-	4	399	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTCATTCCGGTATAAGATC	0.483										HNSCC(54;0.14)																											p.R77W		.											.	FAM135B-31	0			c.C229T						.						96	94	95					8																	139278014		1948	4151	6099	SO:0001583	missense	51059	exon4			CATTCCGGTATAA	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.229C>T	8.37:g.139278014G>A	ENSP00000378710:p.Arg77Trp	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	135	9	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166150	0.78339	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.17854	2.25	5.92	2.22	0.28083	.	0.000000	0.64402	U	0.000003	T	0.40015	0.1100	M	0.77820	2.39	0.41237	D	0.986616	D	0.89917	1.0	D	0.91635	0.999	T	0.33854	-0.9852	10	0.87932	D	0	-15.4773	11.4263	0.50012	0.0:0.0:0.3209:0.6791	.	77	Q49AJ0	F135B_HUMAN	W	77	ENSP00000378710:R77W	ENSP00000160713:R77W	R	-	1	2	FAM135B	139347196	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.608000	0.24223	0.542000	0.28846	-0.127000	0.14921	CGG	.		0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139278014	G	A	139278014	3	1	5	1	0	0	0	0	1	0	0	0	5468	1115	39	1	4059	1	FAM135B	8	139278014	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3628257	139278014	7086008	236	697											
GPR20	2843	hgsc.bcm.edu	37	chr8	142367290	142367290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaaagatgatgagcaccGtgagcaggagctgcatggcc	15	9	0	5	rs552858075		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:142367290G>A	ENST00000377741.3	-	2	824	c.734C>T	c.(733-735)aCg>aTg	p.T245M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GATGAGCACCGTGAGCAGGAG	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		19961	0		0	False		,,,				2504	0				p.T245M		.											.	GPR20-91	0			c.C734T						.						22	18	19					8																	142367290		2195	4293	6488	SO:0001583	missense	2843	exon2			AGCACCGTGAGCA	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.734C>T	8.37:g.142367290G>A	ENSP00000366970:p.Thr245Met	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	43	29	NM_005293	0	0	0	0	0	Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111828	0.77210	.	.	ENSG00000204882	ENST00000377741	T	0.37584	1.19	4.99	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.068148	0.56097	U	0.000021	T	0.50309	0.1608	L	0.41492	1.28	0.45676	D	0.998598	D	0.89917	1.0	D	0.76071	0.987	T	0.51616	-0.8683	10	0.62326	D	0.03	-27.3861	14.2745	0.66170	0.0:0.1499:0.8501:0.0	.	245	Q99678	GPR20_HUMAN	M	245	ENSP00000366970:T245M	ENSP00000366970:T245M	T	-	2	0	GPR20	142436472	0.983000	0.35010	0.993000	0.49108	0.910000	0.53928	3.179000	0.50887	1.049000	0.40321	0.462000	0.41574	ACG	.		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367290	G	A	142367290	3	1	5	1	0	0	0	0	1	0	0	0	6706	1145	40	1	346	1	GPR20	8	142367290	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3089276	142367290	3996732	237	698											
C8orf73	642475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	144653155	144653155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaggctgcgccagagctcGgctgctaccctgagggtttg	14	12	0	2	rs541151034		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:144653155G>A	ENST00000398882.3	-	4	868	c.612C>T	c.(610-612)gcC>gcT	p.A204A	MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000534459.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	204																	GCCAGAGCTCGGCTGCTACCC	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		10296	0		0	False		,,,				2504	0				p.A204A		.											.	.	0			c.C612T						.						12	15	14					8																	144653155		1620	3258	4878	SO:0001819	synonymous_variant	642475	exon4			GAGCTCGGCTGCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.612C>T	8.37:g.144653155G>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	97	9	NM_001100878	0	0	0	1	1	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			.		0.647	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		A	144653155	G	A	144653155	2	1	5	1	0	0	0	0	0	0	0	1	2442	1103	39	1		1	C8orf73	8	144653155	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2285865	144653155	1710867	238	699											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998514	144998514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaggcgctcgttctcCgcctccttctccttgagcgc	10	19	2	1	rs75586449	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:144998514C>T	ENST00000322810.4	-	31	6163	c.5994G>A	c.(5992-5994)gcG>gcA	p.A1998A	PLEC_ENST00000398774.2_Silent_p.A1829A|PLEC_ENST00000356346.3_Silent_p.A1847A|PLEC_ENST00000345136.3_Silent_p.A1861A|PLEC_ENST00000354958.2_Silent_p.A1839A|PLEC_ENST00000436759.2_Silent_p.A1888A|PLEC_ENST00000357649.2_Silent_p.A1865A|PLEC_ENST00000354589.3_Silent_p.A1861A|PLEC_ENST00000527096.1_Silent_p.A1884A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1998	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGTTCTCCGCCTCCTTCT	0.726													T|||	349	0.0696885	0.0113	0.1412	5008	,	,		11250	0.0437		0.0358	False		,,,				2504	0.1595				p.A1998A		.											.	PLEC-141	0			c.G5994A						.	T	,,,,,,,	38,3548		0,38,1755	7	9	8		5664,5541,5517,5994,5487,5583,5595,5583	-5.2	0.8	8	dbSNP_131	8	272,7344		2,268,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	2,306,5293	TT,TC,CC		3.5714,1.0597,2.7674	,,,,,,,	1888/4575,1847/4534,1839/4526,1998/4685,1829/4516,1861/4548,1865/4552,1861/4548	144998514	310,10892	1793	3808	5601	SO:0001819	synonymous_variant	5339	exon31			GTTCTCCGCCTCC	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.5994G>A	8.37:g.144998514C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_201380	0	0	4	11	7	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.961;T|0.039		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998514	C	T	144998514	2	4	5	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998514	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	345359	144998514	1365508	239	700											
SPATC1	375686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145094825	145094825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgtcttcctgccccCgtccccagcagtggcaaacg	10	18	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145094825C>T	ENST00000377470.3	+	2	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P76L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCCCCCGTCCCCAGCA	0.627																																					p.P76L		.											.	SPATC1-91	0			c.C227T						.						68	74	72					8																	145094825		2203	4300	6503	SO:0001583	missense	375686	exon2			TGCCCCCGTCCCC	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.227C>T	8.37:g.145094825C>T	ENSP00000366690:p.Pro76Leu	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	107	26	NM_001134374	0	0	0	0	0	B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658372	0.29425	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.51817	0.69;0.69	5.05	2.79	0.32731	.	0.577983	0.15653	N	0.251268	T	0.54415	0.1857	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.354	P;B	0.57548	0.823;0.025	T	0.46205	-0.9208	10	0.66056	D	0.02	-14.049	3.7743	0.08654	0.2336:0.6174:0.0:0.149	.	76;76	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	76	ENSP00000366690:P76L;ENSP00000387613:P76L	ENSP00000366690:P76L	P	+	2	0	SPATC1	145166813	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	0.087000	0.14958	1.218000	0.43458	0.650000	0.86243	CCG	.		0.627	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		T	145094825	C	T	145094825	3	4	5	1	0	0	0	0	1	0	0	0	15064	652	23	1	233	1	SPATC1	8	145094825	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	96311	145094825	1269197	240	701											
OPLAH	26873	hgsc.bcm.edu;broad.mit.edu	37	chr8	145106724	145106724	+	Frame_Shift_Del	DEL	C	C	-													ggccgcgggcgccaggctcgCcccctgcggagggaggcgag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145106724delC	ENST00000426825.1	-	27	3707	c.3626delG	c.(3625-3627)ggcfs	p.G1209fs	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1209					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGCTCGCCCCCTGCGGA	0.736																																					p.G1209fs		.											.	OPLAH-68	0			c.3626delG						.						12	14	13					8																	145106724		1796	4048	5844	SO:0001589	frameshift_variant	26873	exon27			GGCTCGCCCCCTG	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3626delG	8.37:g.145106724delC	ENSP00000475943:p.Gly1209fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	36	10	NM_017570	0	0	0	0	0	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																				.		0.736	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		-	145106724	C	-	145106724	7	5	5	1	0	1	0	1	0	0	0	0	10915	739	26	0	248	0	OPLAH	8	145106724	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	11899	145106724	1257298	241	702											
CPSF1	29894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145620718	145620718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcctgacaggccatgGggcatcataggacaggtagg	14	9	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145620718G>T	ENST00000349769.3	-	27	3122	c.3028C>A	c.(3028-3030)Cca>Aca	p.P1010T	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1010					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)			ACAGGCCATGGGGCATCATAG	0.662																																					p.P1010T	NSCLC(133;1088 1848 27708 34777 35269)	.											.	CPSF1-91	0			c.C3028A						.						46	41	43					8																	145620718		2203	4300	6503	SO:0001583	missense	29894	exon27			GCCATGGGGCATC	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.3028C>A	8.37:g.145620718G>T	ENSP00000339353:p.Pro1010Thr	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	222	75	NM_013291	0	0	66	78	12	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765692	0.31228	.	.	ENSG00000071894	ENST00000349769	T	0.75938	-0.98	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.78801	2.425	0.80722	D	1	P	0.34615	0.459	B	0.37387	0.248	T	0.72357	-0.4318	10	0.13470	T	0.59	-6.5918	16.7014	0.85350	0.0:0.0:1.0:0.0	.	1010	Q10570	CPSF1_HUMAN	T	1010	ENSP00000339353:P1010T	ENSP00000339353:P1010T	P	-	1	0	CPSF1	145591526	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	5.904000	0.69886	2.534000	0.85438	0.536000	0.68110	CCA	.		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		T	145620718	G	T	145620718	3	4	5	1	0	0	0	0	1	0	0	0	3831	1232	43	3	1351	3	CPSF1	8	145620718	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	513994	145620718	743304	242	703											
KIFC2	90990	hgsc.bcm.edu	37	chr8	145697835	145697835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggctggcctcacccacTgggacgtgcccaacctggag	14	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145697835T>C	ENST00000301332.2	+	15	2076	c.1699T>C	c.(1699-1701)Tgg>Cgg	p.W567R	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	567	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCACCCACTGGGACGTGCC	0.701																																					p.W567R		.											.	KIFC2-92	0			c.T1699C						.						24	28	26					8																	145697835		2198	4297	6495	SO:0001583	missense	90990	exon15			ACCCACTGGGACG	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1699T>C	8.37:g.145697835T>C	ENSP00000301332:p.Trp567Arg	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	135	82	NM_145754	0	0	21	70	49	E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742825	0.49151	.	.	ENSG00000167702	ENST00000301332	T	0.39787	1.06	4.76	3.6	0.41247	Kinesin, motor domain (4);	0.000000	0.32147	N	0.006517	T	0.22282	0.0537	N	0.00991	-1.07	0.31701	N	0.640713	P	0.42735	0.788	P	0.53649	0.731	T	0.11470	-1.0586	10	0.33940	T	0.23	-19.8467	4.1782	0.10362	0.1773:0.0951:0.0:0.7276	.	567	Q96AC6	KIFC2_HUMAN	R	567	ENSP00000301332:W567R	ENSP00000301332:W567R	W	+	1	0	KIFC2	145668643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.581000	0.46077	0.843000	0.35070	0.482000	0.46254	TGG	.		0.701	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		C	145697835	T	C	145697835	3	2	5	1	0	0	0	0	1	0	0	0	8340	1580	55	4	1757	4	KIFC2	8	145697835	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	77117	145697835	666187	243	704											
RECQL4	113655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145736909	145736909	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagcgtcggtcctgccCgtacacctgggccgggtagc	14	15	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr8:145736909C>T	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.G1178R|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGTCCTGCCCGTACACCTGG	0.672																																					p.G1178R		.											.	RECQL4-1083	0			c.G3532A						.						35	41	39					8																	145736909		1940	4143	6083	SO:0001628	intergenic_variant	9401	exon22			CCTGCCCGTACAC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145736909C>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	182	40	NM_004260	0	1	64	89	24		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																			.		0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		T	145736909	C	T	145736909	1	4	5	0	1	0	0	0	0	0	0	0	13247	652	23	1		1	RECQL4	8	145736909	IGR	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	39074	145736909	627113	244	705											
C9orf66	157983	hgsc.bcm.edu	37	chr9	215057	215057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccccgcggcgcgcaggtTgcggccggacagcccagcgc	16	19	0	0	rs481905	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:215057T>C	ENST00000382387.2	-	1	836	c.340A>G	c.(340-342)Aac>Gac	p.N114D	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	114										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGCGCAGGTTGCGGCCGGAC	0.736													C|||	3213	0.641573	0.705	0.611	5008	,	,		9955	0.7401		0.4811	False		,,,				2504	0.6411				p.N114D		.											.	C9orf66-514	0			c.A340G						.	C	,ASP/ASN	1480,1394		426,628,383	3	4	4		,340	1.6	0	9	dbSNP_83	4	2555,3973		602,1351,1311	yes	intron,missense	DOCK8,C9orf66	NM_203447.3,NM_152569.2	,23	1028,1979,1694	CC,CT,TT		39.1391,48.5038,42.9164	,benign	,114/296	215057	4035,5367	1437	3264	4701	SO:0001583	missense	157983	exon1			GCAGGTTGCGGCC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.340A>G	9.37:g.215057T>C	ENSP00000371824:p.Asn114Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	1282	0.586996336996337	342	0.6951219512195121	195	0.5386740331491713	381	0.666083916083916	364	0.48021108179419525	C	9.821	1.185669	0.21870	0.514962	0.391391	ENSG00000183784	ENST00000382387	T	0.22539	1.95	2.56	1.6	0.23607	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.47153	P	6.620000000000514E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	8	0.87932	D	0	.	4.3	0.10920	0.0:0.6131:0.2361:0.1509	rs481905;rs58620149	114	Q5T8R8	CI066_HUMAN	D	114	ENSP00000371824:N114D	ENSP00000371824:N114D	N	-	1	0	C9orf66	205057	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.471000	0.06631	-0.029000	0.13827	-0.642000	0.03964	AAC	T|0.413;C|0.587		0.736	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	215057	T	C	215057	3	2	5	1	0	0	0	0	1	0	0	0	2497	1812	63	4	551	4	C9orf66	9	215057	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10		215057	140998374	245	706											
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	712006	712006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgaacgacatcgtcGtgtaccacagaggctccagg	11	11	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:712006G>A	ENST00000382303.1	+	7	1892	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.V414M|KANK1_ENST00000382293.3_Missense_Mutation_p.V256M	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	414	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGACATCGTCGTGTACCACAG	0.567																																					p.V414M		.											.	KANK1-517	0			c.G1240A						.						115	91	99					9																	712006		2203	4300	6503	SO:0001583	missense	23189	exon7			ATCGTCGTGTACC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1240G>A	9.37:g.712006G>A	ENSP00000371740:p.Val414Met	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	321	24	NM_001256876	0	0	1	1	0	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622302	0.28889	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.41065	1.01;1.01;1.06	5.41	3.46	0.39613	.	0.154071	0.30252	N	0.010046	T	0.45994	0.1370	M	0.61703	1.905	0.31350	N	0.682602	D;D	0.65815	0.995;0.995	P;P	0.51945	0.685;0.605	T	0.54002	-0.8358	10	0.45353	T	0.12	-3.4884	6.604	0.22716	0.2202:0.1375:0.6422:0.0	.	414;414	Q5W0W1;Q14678	.;KANK1_HUMAN	M	414;414;414;256	ENSP00000371740:V414M;ENSP00000371734:V414M;ENSP00000371730:V256M	ENSP00000346479:V414M	V	+	1	0	KANK1	702006	0.944000	0.32072	0.822000	0.32727	0.434000	0.31775	1.946000	0.40283	1.428000	0.47296	0.655000	0.94253	GTG	.		0.567	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	712006	G	A	712006	3	1	5	1	0	0	0	0	1	0	0	0	8003	1145	40	1	1246	1	KANK1	9	712006	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	496949	712006	140501425	246	707											
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	738458	738458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacagccctccattacagCgtgtcccactccaacttcga	5	17	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000382293.3_Silent_p.S1011S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527																																					p.S1169S		.											.	KANK1-517	0			c.C3507T						.						150	114	126					9																	738458		2203	4300	6503	SO:0001819	synonymous_variant	23189	exon12			TTACAGCGTGTCC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3507C>T	9.37:g.738458C>T		Somatic	206	0		WXS	Illumina GAIIx	Phase_I	274	58	NM_001256876	0	0	2	3	1	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			.		0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		T	738458	C	T	738458	2	4	5	1	0	0	0	0	0	0	0	1	8003	767	27	1		1	KANK1	9	738458	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	26452	738458	140474973	247	708											
VLDLR	7436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	2643347	2643347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccatcagctgggtatgCgacgatgatgcagactgctc	11	12	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:2643347C>T	ENST00000382100.3	+	5	992	c.636C>T	c.(634-636)tgC>tgT	p.C212C	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Silent_p.C212C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	212	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCTGGGTATGCGACGATGATG	0.597																																					p.C212C		.											.	VLDLR-516	0			c.C636T						.						71	57	62					9																	2643347		2203	4300	6503	SO:0001819	synonymous_variant	7436	exon5			GGTATGCGACGAT		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.636C>T	9.37:g.2643347C>T		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	293	75	NM_003383	0	0	4	4	0	B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	CCDS6446.1																																																																																			.		0.597	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		T	2643347	C	T	2643347	2	4	5	1	0	0	0	0	0	0	0	1	17223	776	27	1		1	VLDLR	9	2643347	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1904889	2643347	138570084	248	709											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832719	5832719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgtcgaactccccgcgGtgtccagcggccccgcgtag	14	17	0	0	rs13302671	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:5832719G>C	ENST00000339450.5	-	1	398	c.309C>G	c.(307-309)caC>caG	p.H103Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	103						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)		ACTCCCCGCGGTGTCCAGCGG	0.751													G|||	78	0.0155751	0.0204	0.0216	5008	,	,		2342	0.001		0.0318	False		,,,				2504	0.0031				p.H103Q		.											.	ERMP1-69	0			c.C309G						.	G	GLN/HIS	34,3206		0,34,1586	4	3	3		309	4.4	0	9	dbSNP_121	3	104,6552		0,104,3224	yes	missense	ERMP1	NM_024896.2	24	0,138,4810	CC,CG,GG		1.5625,1.0494,1.3945	benign	103/905	5832719	138,9758	1620	3328	4948	SO:0001583	missense	79956	exon1			CCCGCGGTGTCCA	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.309C>G	9.37:g.5832719G>C	ENSP00000340427:p.His103Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	38	0.0173992673992674	13	0.026422764227642278	8	0.022099447513812154	0	0.0	17	0.022427440633245383	G	5.805	0.332747	0.11013	0.010494	0.015625	ENSG00000099219	ENST00000339450	T	0.43294	0.95	4.44	4.44	0.53790	.	1.479950	0.04451	N	0.372552	T	0.14700	0.0355	L	0.38175	1.15	0.43377	D	0.995479	B;B	0.14438	0.01;0.009	B;B	0.11329	0.004;0.006	T	0.06770	-1.0808	10	0.11182	T	0.66	0.2942	10.7252	0.46064	0.0883:0.0:0.9117:0.0	rs13302671	103;103	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	Q	103	ENSP00000340427:H103Q	ENSP00000340427:H103Q	H	-	3	2	ERMP1	5822719	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	0.333000	0.19768	2.009000	0.58944	0.462000	0.41574	CAC	G|0.981;C|0.019		0.751	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832719	G	C	5832719	3	2	5	1	0	0	0	0	1	0	0	0	5252	1252	44	3	2465	3	ERMP1	9	5832719	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3189372	5832719	135380712	249	710											
BNC2	54796	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	16419579	16419579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctaagggagggctgcgacGagtccaggcccatgtcatcg	15	11	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:16419579G>A	ENST00000380672.4	-	7	2765	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	BNC2_ENST00000545497.1_Missense_Mutation_p.S808L|BNC2_ENST00000380667.2_Missense_Mutation_p.S836L	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)		GGGCTGCGACGAGTCCAGGCC	0.537																																					p.S903L		.											.	BNC2-92	0			c.C2708T						.						81	88	85					9																	16419579		2203	4300	6503	SO:0001583	missense	54796	exon7			TGCGACGAGTCCA	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.2708C>T	9.37:g.16419579G>A	ENSP00000370047:p.Ser903Leu	Somatic	67	1		WXS	Illumina GAIIx	Phase_I	70	67	NM_017637	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063277	0.20067	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.32753	1.44;1.45;1.45	5.59	5.59	0.84812	.	0.118006	0.64402	D	0.000014	T	0.25344	0.0616	L	0.40543	1.245	0.80722	D	1	B;B;B	0.32731	0.296;0.382;0.382	B;B;B	0.25291	0.059;0.027;0.027	T	0.06058	-1.0848	10	0.11485	T	0.65	-1.2539	19.6005	0.95560	0.0:0.0:1.0:0.0	.	808;903;668	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	L	903;836;808	ENSP00000370047:S903L;ENSP00000370042:S836L;ENSP00000444640:S808L	ENSP00000370042:S836L	S	-	2	0	BNC2	16409579	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	TCG	.		0.537	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		A	16419579	G	A	16419579	3	1	5	1	0	0	0	0	1	0	0	0	1477	1059	37	1	595	1	BNC2	9	16419579	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10586860	16419579	124793852	250	711											
KIF24	347240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	34306372	34306372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcatgcccagggggcGttttcgaacacaaactctga	9	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:34306372G>A	ENST00000402558.2	-	2	715	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	KIF24_ENST00000345050.2_Missense_Mutation_p.R231C|KIF24_ENST00000379174.3_Missense_Mutation_p.R231C|KIF24_ENST00000379166.2_Missense_Mutation_p.R231C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	231	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)			CCCAGGGGGCGTTTTCGAACA	0.378																																					p.R231C		.											.	KIF24-22	0			c.C691T						.						185	177	179					9																	34306372		1815	4081	5896	SO:0001583	missense	347240	exon3			GGGGGCGTTTTCG	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.691C>T	9.37:g.34306372G>A	ENSP00000384433:p.Arg231Cys	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	93	85	NM_194313	0	0	0	0	0	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665438	0.88251	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	D;T;D;T	0.85339	-1.97;1.3;-1.97;1.3	5.74	5.74	0.90152	Kinesin, motor domain (4);	0.000000	0.43110	D	0.000614	D	0.96546	0.8873	H	0.99697	4.71	0.42896	D	0.994212	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98260	1.0498	10	0.72032	D	0.01	.	19.9179	0.97070	0.0:0.0:1.0:0.0	.	231;231	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	C	231	ENSP00000384433:R231C;ENSP00000368472:R231C;ENSP00000368464:R231C;ENSP00000340179:R231C	ENSP00000340179:R231C	R	-	1	0	KIF24	34296372	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.033000	0.76504	2.723000	0.93209	0.655000	0.94253	CGC	.		0.378	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			A	34306372	G	A	34306372	3	1	5	1	0	0	0	0	1	0	0	0	8319	1145	40	1	3459	1	KIF24	9	34306372	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	17886793	34306372	106907059	251	712											
TLN1	7094	hgsc.bcm.edu;broad.mit.edu	37	chr9	35715145	35715145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgcctcccgcagccGctgctgctgctcctcactgt	9	19	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:35715145G>A	ENST00000314888.9	-	21	3018	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	TLN1_ENST00000540444.1_Missense_Mutation_p.R889W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	889					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)			TCCCGCAGCCGCTGCTGCTGC	0.622																																					p.R889W		.											.	TLN1-609	0			c.C2665T						.						30	34	33					9																	35715145		2186	4269	6455	SO:0001583	missense	7094	exon21			GCAGCCGCTGCTG	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.2665C>T	9.37:g.35715145G>A	ENSP00000316029:p.Arg889Trp	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	91	5	NM_006289	0	0	4	4	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540428	0.85917	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69040	-0.37;-0.37	5.67	4.77	0.60923	.	0.056027	0.64402	D	0.000001	T	0.71195	0.3311	L	0.44542	1.39	0.49582	D	0.999808	D	0.62365	0.991	P	0.54629	0.757	T	0.74685	-0.3582	10	0.66056	D	0.02	-21.31	16.092	0.81098	0.0:0.0:0.8651:0.1349	.	889	Q9Y490	TLN1_HUMAN	W	889	ENSP00000316029:R889W;ENSP00000442981:R889W	ENSP00000316029:R889W	R	-	1	2	TLN1	35705145	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.067000	0.57527	1.381000	0.46364	-0.310000	0.09108	CGG	.		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35715145	G	A	35715145	3	1	5	1	0	0	0	0	1	0	0	0	15994	1086	38	1	5108	1	TLN1	9	35715145	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1408773	35715145	105498286	252	713											
TMEM8B	51754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35853771	35853771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaccagctatgcatcaaCgagcaggaggagctgggcct	14	10	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:35853771C>T	ENST00000377991.4	+	14	2368	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	TMEM8B_ENST00000377988.2_Silent_p.N451N	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	451					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TATGCATCAACGAGCAGGAGG	0.672																																					p.N451N		.											.	TMEM8B-91	0			c.C1353T						.						40	45	43					9																	35853771		1881	4097	5978	SO:0001819	synonymous_variant	51754	exon13			CATCAACGAGCAG	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1353C>T	9.37:g.35853771C>T		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	43	37	NM_001042590	0	0	0	16	16	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	CCDS43800.1																																																																																			.		0.672	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		T	35853771	C	T	35853771	2	4	5	1	0	0	0	0	0	0	0	1	16262	535	19	1		1	TMEM8B	9	35853771	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	138626	35853771	105359660	253	714											
GRHPR	9380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	37428531	37428531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtggctatggactcaCgcagagcactgtcggcatca	13	11	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:37428531C>T	ENST00000318158.6	+	5	540	c.455C>T	c.(454-456)aCg>aTg	p.T152M	GRHPR_ENST00000607784.1_Missense_Mutation_p.T152M|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	152					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TATGGACTCACGCAGAGCACT	0.667																																					p.T152M		.											.	GRHPR-90	0			c.C455T						.						91	94	93					9																	37428531		2203	4300	6503	SO:0001583	missense	9380	exon5			GACTCACGCAGAG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.455C>T	9.37:g.37428531C>T	ENSP00000313432:p.Thr152Met	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	123	115	NM_012203	0	0	0	75	75	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391029	0.62066	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.80566	-1.39;-1.39	5.77	3.9	0.45041	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.241176	0.49916	D	0.000130	T	0.81889	0.4918	L	0.39147	1.195	0.20307	N	0.999919	D;P;P	0.60575	0.988;0.633;0.633	P;P;P	0.61328	0.887;0.519;0.519	T	0.72297	-0.4335	10	0.34782	T	0.22	4.1945	11.4209	0.49980	0.1249:0.8089:0.0:0.0662	.	152;152;152	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	M	152	ENSP00000367055:T152M;ENSP00000313432:T152M	ENSP00000313432:T152M	T	+	2	0	GRHPR	37418531	0.898000	0.30612	0.182000	0.23118	0.920000	0.55202	3.069000	0.50026	1.430000	0.47334	0.650000	0.86243	ACG	.		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		T	37428531	C	T	37428531	3	4	5	1	0	0	0	0	1	0	0	0	6793	536	19	1	473	1	GRHPR	9	37428531	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1574760	37428531	103784900	254	715											
TJP2	9414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	71861604	71861604	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtttatatttctatAgctacaatcaacctaaattc	2	8	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:71861604A>G	ENST00000377245.4	+	18	2774		c.e18-1		TJP2_ENST00000348208.4_Splice_Site|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Splice_Site|TJP2_ENST00000265384.7_Splice_Site|TJP2_ENST00000453658.2_Splice_Site|TJP2_ENST00000539225.1_Splice_Site	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATATTTCTATAGCTACAATCA	0.363																																					.		.											.	TJP2-115	0			c.2498-2A>G						.						97	94	95					9																	71861604		2203	4300	6503	SO:0001630	splice_region_variant	9414	exon19			TTCTATAGCTACA	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2567-1A>G	9.37:g.71861604A>G		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	94	94	NM_001170414	0	0	0	0	0	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Splice_Site	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222801	0.58668	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2366	0.73436	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TJP2	71051424	1.000000	0.71417	0.896000	0.35187	0.704000	0.40688	8.856000	0.92245	2.244000	0.73946	0.533000	0.62120	.	.		0.363	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	Intron	G	71861604	A	G	71861604	5	3	5	1	0	0	0	0	0	0	1	0	15977	434	15	4	2792	4	TJP2	9	71861604	Splice_Site	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	34433073	71861604	69351827	255	716											
TMEM2	23670	broad.mit.edu;bcgsc.ca	37	chr9	74305086	74305086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgttttttccgtcaagCggaatggaacgctgcacgga	11	10	1	0	rs368725693	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:74305086C>T	ENST00000377044.4	-	22	4312	c.3773G>A	c.(3772-3774)cGc>cAc	p.R1258H	TMEM2_ENST00000377066.5_Missense_Mutation_p.R1195H|TMEM2_ENST00000396272.3_Missense_Mutation_p.R251H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1258					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)		TTCCGTCAAGCGGAATGGAAC	0.473													C|||	2	0.000399361	0	0	5008	,	,		22698	0.002		0	False		,,,				2504	0				p.R1258H		.											.	TMEM2-92	0			c.G3773A						.						137	117	124					9																	74305086		2203	4300	6503	SO:0001583	missense	23670	exon22			GTCAAGCGGAATG		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.3773G>A	9.37:g.74305086C>T	ENSP00000366243:p.Arg1258His	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	244	11	NM_013390	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757445	0.49468	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.73575	-0.76;-0.69;2.47	5.98	4.16	0.48862	.	0.164580	0.53938	D	0.000048	T	0.63733	0.2536	L	0.44542	1.39	0.38805	D	0.955295	B;B	0.19200	0.02;0.034	B;B	0.14023	0.004;0.01	T	0.59118	-0.7514	10	0.37606	T	0.19	.	8.2724	0.31853	0.0:0.7205:0.1368:0.1427	.	1258;1195	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	1258;1195;251	ENSP00000366243:R1258H;ENSP00000366266:R1195H;ENSP00000379569:R251H	ENSP00000366243:R1258H	R	-	2	0	TMEM2	73494906	0.468000	0.25839	0.976000	0.42696	0.313000	0.28021	0.349000	0.20055	0.872000	0.35775	-0.143000	0.13931	CGC	.		0.473	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74305086	C	T	74305086	3	4	5	1	0	0	0	0	1	0	0	0	16168	768	27	1	390	1	TMEM2	9	74305086	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2443482	74305086	66908345	256	717											
VPS13A	23230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	79933230	79933230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccatcccagaagaaaCggcttcttctactgcacatt	7	12	2	2	rs144009026		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:79933230C>T	ENST00000360280.3	+	41	5296	c.5036C>T	c.(5035-5037)aCg>aTg	p.T1679M	VPS13A_ENST00000376636.3_Missense_Mutation_p.T1640M|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1679M|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1679M	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1679					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						CCAGAAGAAACGGCTTCTTCT	0.318																																					p.T1679M		.											.	VPS13A-161	0			c.C5036T						.	C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	86	91	89		4919,5036,5036,5036	0.3	0	9	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	81,81,81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1640/3136,1679/3070,1679/3096,1679/3175	79933230	2,13004	2203	4300	6503	SO:0001583	missense	23230	exon41			AAGAAACGGCTTC	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.5036C>T	9.37:g.79933230C>T	ENSP00000353422:p.Thr1679Met	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	123	113	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	3.684	-0.065017	0.07273	2.27E-4	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.03	0.297	0.15762	.	1.128900	0.06421	N	0.722385	T	0.13628	0.0330	L	0.54323	1.7	0.09310	N	1	P;P;D;D	0.53462	0.485;0.932;0.96;0.96	B;B;B;B	0.42555	0.09;0.148;0.391;0.391	T	0.24083	-1.0170	10	0.54805	T	0.06	.	3.0128	0.06049	0.3505:0.4056:0.0979:0.146	.	1640;1679;1679;1679	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	M	1679;1640;1679;1679	ENSP00000365821:T1679M;ENSP00000365823:T1640M;ENSP00000353422:T1679M;ENSP00000349985:T1679M	ENSP00000349985:T1679M	T	+	2	0	VPS13A	79123050	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.118000	0.15605	0.071000	0.16664	0.460000	0.39030	ACG	C|1.000;T|0.000		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79933230	C	T	79933230	3	4	5	1	0	0	0	0	1	0	0	0	17238	536	19	1	5198	1	VPS13A	9	79933230	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5628144	79933230	61280201	257	718											
WNK2	65268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	96021245	96021245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgtgccccccatcacGcccctggcgggaatcgacgg	12	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:96021245G>A	ENST00000297954.4	+	11	2415	c.2415G>A	c.(2413-2415)acG>acA	p.T805T	WNK2_ENST00000349097.3_Silent_p.T417T|WNK2_ENST00000427277.2_Silent_p.T417T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.T805T|WNK2_ENST00000395475.2_Silent_p.T739T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	805					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						CCCCCATCACGCCCCTGGCGG	0.652																																					p.T805T		.											.	WNK2-765	0			c.G2415A						.						34	38	37					9																	96021245		2203	4299	6502	SO:0001819	synonymous_variant	65268	exon11			CATCACGCCCCTG	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.2415G>A	9.37:g.96021245G>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	288	37	NM_006648	0	0	3	3	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.994|3.994	-0.003964|-0.003964	0.07773|0.07773	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.01|5.01	-10.0|-10.0	0.00425|0.00425	.|.	.|.	.|.	.|.	.|.	T|T	0.32376|0.32376	0.0827|0.0827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46952|0.46952	-0.9154|-0.9154	4|4	.|.	.|.	.|.	.|.	1.4373|1.4373	0.02346|0.02346	0.3134:0.1967:0.0854:0.4045|0.3134:0.1967:0.0854:0.4045	.|.	.|.	.|.	.|.	T|H	409|801	.|.	.|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95061066|95061066	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.506000|0.506000	0.33950|0.33950	-2.189000|-2.189000	0.01248|0.01248	-3.650000|-3.650000	0.00126|0.00126	0.462000|0.462000	0.41574|0.41574	GCC|CGC	.		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		A	96021245	G	A	96021245	2	1	5	1	0	0	0	0	0	0	0	1	17427	1074	38	1		1	WNK2	9	96021245	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	16088015	96021245	45192186	258	719											
WNK2	65268	broad.mit.edu	37	chr9	96021293	96021293	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggccctcccagacctgccGaccgcgactgtgcctcccgt	10	21	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:96021293G>A	ENST00000297954.4	+	11	2463	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	WNK2_ENST00000349097.3_Silent_p.P433P|WNK2_ENST00000427277.2_Silent_p.P433P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.P821P|WNK2_ENST00000395475.2_Silent_p.P755P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	821					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						CAGACCTGCCGACCGCGACTG	0.672																																					p.P821P		.											.	WNK2-765	0			c.G2463A						.						35	41	39					9																	96021293		2203	4299	6502	SO:0001819	synonymous_variant	65268	exon11			CCTGCCGACCGCG	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.2463G>A	9.37:g.96021293G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	248	6	NM_006648	0	0	0	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.136|1.136	-0.650845|-0.650845	0.03506|0.03506	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.01|5.01	0.464|0.464	0.16706|0.16706	.|.	.|.	.|.	.|.	.|.	T|T	0.40040|0.40040	0.1101|0.1101	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23048|0.23048	-1.0199|-1.0199	4|4	.|.	.|.	.|.	.|.	0.6452|0.6452	0.00817|0.00817	0.3102:0.112:0.3224:0.2554|0.3102:0.112:0.3224:0.2554	.|.	.|.	.|.	.|.	N|Q	425|817	.|.	.|.	D|R	+|+	1|2	0|0	WNK2|WNK2	95061114|95061114	0.001000|0.001000	0.12720|0.12720	0.869000|0.869000	0.34112|0.34112	0.005000|0.005000	0.04900|0.04900	-1.530000|-1.530000	0.02221|0.02221	0.139000|0.139000	0.18822|0.18822	-0.448000|-0.448000	0.05591|0.05591	GAC|CGA	.		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		A	96021293	G	A	96021293	2	1	5	1	0	0	0	0	0	0	0	1	17427	1045	37	1		1	WNK2	9	96021293	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	48	96021293	45192138	259	720											
KIAA1529	100499483	bcgsc.ca	37	chr9	100070351	100070351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcggccaagatgtcGtcagtggggaaggtgaccca	15	11	1	2	rs12683119	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:100070351G>A	ENST00000357054.1	+	16	1490	c.555G>A	c.(553-555)tcG>tcA	p.S185S	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Silent_p.S46S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S46S|CCDC180_ENST00000375202.2_Silent_p.S46S|CCDC180_ENST00000395220.1_Silent_p.S185S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	185						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAAGATGTCGTCAGTGGGGA	0.592																																					p.S46S		.											.	.	0			c.G138A						.						72	65	67					9																	100070351		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			GATGTCGTCAGTG	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.555G>A	9.37:g.100070351G>A		Somatic	212	0		WXS	Illumina GAIIx	Phase_I	386	11	NM_020893	0	0	0	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				G|0.813;C|0.187		0.592	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100070351	G	A	100070351	2	1	5	1	0	0	0	0	0	0	0	1	8267	1132	40	1		1	KIAA1529	9	100070351	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4049058	100070351	41143080	260	721											
NCBP1	4686	hgsc.bcm.edu;bcgsc.ca	37	chr9	100409836	100409838	+	In_Frame_Del	DEL	AAG	AAG	-													tgctgataaaccacatccacAagaagaggtaaatggatttc					rs150415739		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:100409836_100409838delAAG	ENST00000375147.3	+	7	930_932	c.674_676delAAG	c.(673-678)caagaa>caa	p.E227del		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	227	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CCACATCCACAAGAAGAGGTAAA	0.365																																					p.225_226del	Ovarian(36;879 898 2893 44212 50307)	.											.	NCBP1-90	0			c.674_676del						.																																			SO:0001651	inframe_deletion	4686	exon7			ATCCACAAGAAGA	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.674_676delAAG	9.37:g.100409839_100409841delAAG	ENSP00000364289:p.Glu227del	Somatic	81	2		WXS	Illumina GAIIx	Phase_I	71	69	NM_002486	0	0	0	0	0	B2R718|Q59G76|Q5T1V0|Q5T7X2	In_Frame_Del	DEL	ENST00000375147.3	37	CCDS6728.1																																																																																			.		0.365	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		-	100409838	AAG	-	100409836	7	5	5	1	0	1	0	1	0	0	0	0	10250	130	5	0	700	0	NCBP1	9	100409836	In_Frame_Del	DEL	AAG	TCGA-OR-A5J5-01A-11D-A29I-10	339485	100409836	40803595	261	722											
INVS	27130	broad.mit.edu	37	chr9	102888723	102888723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacaccacttatgtattgCgtgttggctgacagattgga	11	7	0	3	rs552421229	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:102888723C>T	ENST00000262457.2	+	3	350	c.165C>T	c.(163-165)tgC>tgT	p.C55C	INVS_ENST00000262456.2_Silent_p.C55C|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000374921.3_Silent_p.C55C|INVS_ENST00000460636.2_3'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	55					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTATGTATTGCGTGTTGGCTG	0.408													C|||	2	0.000399361	0	0	5008	,	,		19558	0		0	False		,,,				2504	0.002				p.C55C		.											.	INVS-92	0			c.C165T						.						126	110	115					9																	102888723		2203	4300	6503	SO:0001819	synonymous_variant	27130	exon3			GTATTGCGTGTTG	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.165C>T	9.37:g.102888723C>T		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	236	6	NM_183245	0	0	0	0	0	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																			.		0.408	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	102888723	C	T	102888723	2	4	5	1	0	0	0	0	0	0	0	1	7814	776	27	1		1	INVS	9	102888723	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2478887	102888723	38324708	262	723											
EPB41L4B	54566	bcgsc.ca	37	chr9	111956668	111956668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtctggagggaggtcGtcttcatcactgcggttact	14	10	4	0	rs41278379	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:111956668G>A	ENST00000374566.3	-	21	2572	c.2055C>T	c.(2053-2055)gaC>gaT	p.D685D	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	685					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGGAGGTCGTCTTCATCAC	0.567													G|||	19	0.00379393	0.0053	0.0086	5008	,	,		15502	0		0.006	False		,,,				2504	0				p.D685D		.											.	EPB41L4B-92	0			c.C2055T						.	G		27,4089		0,27,2031	116	126	123		2055	-3.9	1	9	dbSNP_127	123	50,8324		0,50,4137	no	coding-synonymous	EPB41L4B	NM_019114.3		0,77,6168	AA,AG,GG		0.5971,0.656,0.6165		685/901	111956668	77,12413	2058	4187	6245	SO:0001819	synonymous_variant	54566	exon21			GAGGTCGTCTTCA	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2055C>T	9.37:g.111956668G>A		Somatic	203	0		WXS	Illumina GAIIx	Phase_I	308	15	NM_019114	0	0	0	0	0	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																			G|0.994;A|0.006		0.567	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		A	111956668	G	A	111956668	2	1	5	1	0	0	0	0	0	0	0	1	5172	1136	40	1		1	EPB41L4B	9	111956668	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9067945	111956668	29256763	263	724											
EPB41L4B	54566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	112042162	112042162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaaggtccaagtggtAcacaatctgatcaaacaaat	6	10	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:112042162A>G	ENST00000374566.3	-	2	863	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.Y116H	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	116	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAAGTGGTACACAATCTGA	0.418																																					p.Y116H		.											.	EPB41L4B-92	0			c.T346C						.						113	107	109					9																	112042162		1934	4146	6080	SO:0001583	missense	54566	exon2			AGTGGTACACAAT	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.346T>C	9.37:g.112042162A>G	ENSP00000363694:p.Tyr116His	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	134	32	NM_019114	0	0	1	2	1	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469951	0.84533	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	T;T	0.75589	-0.95;-0.95	5.17	5.17	0.71159	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.34362	N	0.004026	T	0.79405	0.4440	L	0.53249	1.67	0.80722	D	1	B;P	0.46859	0.092;0.885	B;P	0.54270	0.064;0.747	T	0.80327	-0.1429	10	0.51188	T	0.08	.	14.2999	0.66339	1.0:0.0:0.0:0.0	.	116;116	Q9H329-2;Q9H329	.;E41LB_HUMAN	H	116;116;38	ENSP00000363694:Y116H;ENSP00000363685:Y116H	ENSP00000311274:Y38H	Y	-	1	0	EPB41L4B	111081983	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.474000	0.90413	2.071000	0.62044	0.454000	0.30748	TAC	.		0.418	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112042162	A	G	112042162	3	3	5	1	0	0	0	0	1	0	0	0	5172	391	14	4	2608	4	EPB41L4B	9	112042162	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	85494	112042162	29171269	264	725											
C9orf43	257169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	116176059	116176059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaactcccagtgctcaccGtggtagacatcttagattcc	7	12	2	2	rs369075240		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:116176059G>A	ENST00000288462.4	+	3	618	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	C9orf43_ENST00000490544.1_3'UTR|C9orf43_ENST00000374165.1_Missense_Mutation_p.V58M	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	58										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTGCTCACCGTGGTAGACAT	0.428																																					p.V58M		.											.	C9orf43-90	0			c.G172A						.	G	MET/VAL	0,4406		0,0,2203	104	96	98		172	-4.2	0	9		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	58/462	116176059	1,13005	2203	4300	6503	SO:0001583	missense	257169	exon3			CTCACCGTGGTAG	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.172G>A	9.37:g.116176059G>A	ENSP00000288462:p.Val58Met	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	164	155	NM_152786	0	0	0	0	0		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096418	0.36952	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.55930	0.49;0.49	5.65	-4.22	0.03800	.	1.122620	0.06784	N	0.785859	T	0.45438	0.1342	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.52309	0.695	T	0.51505	-0.8697	10	0.72032	D	0.01	-0.0777	8.8007	0.34907	0.3587:0.1273:0.5139:0.0	.	58	Q8TAL5	CI043_HUMAN	M	58	ENSP00000363280:V58M;ENSP00000288462:V58M	ENSP00000288462:V58M	V	+	1	0	C9orf43	115215880	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.352000	0.07701	-0.663000	0.05331	-0.471000	0.05019	GTG	.		0.428	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		A	116176059	G	A	116176059	3	1	5	1	0	0	0	0	1	0	0	0	2490	1145	40	1	178	1	C9orf43	9	116176059	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4133897	116176059	25037372	265	726											
RGS3	5998	hgsc.bcm.edu;broad.mit.edu	37	chr9	116269824	116269824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaccgaggtggccaagcGcgggggccagcacaccctgc	14	16	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:116269824G>A	ENST00000374140.2	+	14	1552	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	RGS3_ENST00000343817.5_Missense_Mutation_p.R167H|RGS3_ENST00000394646.3_Missense_Mutation_p.R167H|RGS3_ENST00000350696.5_Missense_Mutation_p.R448H|RGS3_ENST00000374136.1_Missense_Mutation_p.R74H|RGS3_ENST00000317613.6_Missense_Mutation_p.R336H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	448					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						GTGGCCAAGCGCGGGGGCCAG	0.687																																					p.R448H		.											.	RGS3-227	0			c.G1343A						.						20	19	20					9																	116269824		2199	4294	6493	SO:0001583	missense	5998	exon14			CCAAGCGCGGGGG	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.1343G>A	9.37:g.116269824G>A	ENSP00000363255:p.Arg448His	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	170	25	NM_144488	0	0	2	2	0	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	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153677	0.38021	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.65732	0.79;0.79;1.14;0.29;-0.17	4.28	-0.725	0.11174	.	0.479493	0.24725	N	0.036108	T	0.40094	0.1103	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.28605	0.0;0.007;0.004;0.086;0.002;0.217	B;B;B;B;B;B	0.17098	0.001;0.004;0.002;0.015;0.004;0.017	T	0.11717	-1.0576	10	0.72032	D	0.01	.	7.4976	0.27498	0.4817:0.0:0.5183:0.0	.	167;74;167;338;336;448	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	H	448;448;336;167;167;74	ENSP00000363255:R448H;ENSP00000259406:R448H;ENSP00000312844:R336H;ENSP00000340284:R167H;ENSP00000378141:R167H	ENSP00000312844:R336H	R	+	2	0	RGS3	115309645	0.007000	0.16637	0.053000	0.19242	0.934000	0.57294	-0.108000	0.10857	-0.128000	0.11641	0.655000	0.94253	CGC	.		0.687	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116269824	G	A	116269824	3	1	5	1	0	0	0	0	1	0	0	0	13351	1087	38	1	1534	1	RGS3	9	116269824	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	93765	116269824	24943607	266	727											
DFNB31	25861	hgsc.bcm.edu	37	chr9	117166245	117166245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcctgctcttggtggaCaccgactgccttcctcggcc	9	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:117166245C>T	ENST00000362057.3	-	10	2517	c.2349G>A	c.(2347-2349)gtG>gtA	p.V783V	DFNB31_ENST00000265134.6_Silent_p.V400V|DFNB31_ENST00000374059.3_Silent_p.V432V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	783			V -> A (in dbSNP:rs2274159). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGGTGGACACCGACTGCC	0.647																																					p.V783V		.											.	DFNB31-95	0			c.G2349A						.						107	91	96					9																	117166245		2203	4300	6503	SO:0001819	synonymous_variant	25861	exon10			GGTGGACACCGAC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2349G>A	9.37:g.117166245C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	79	4	NM_015404	0	0	0	0	0	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																			.		0.647	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117166245	C	T	117166245	2	4	5	1	0	0	0	0	0	0	0	1	4469	465	17	3		3	DFNB31	9	117166245	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	896421	117166245	24047186	267	728											
TNC	3371	bcgsc.ca	37	chr9	117848659	117848659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacatacacatttgccctCgacacagcggccccgactgt	7	17	1	0	rs369887990		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:117848659C>T	ENST00000350763.4	-	3	1762	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	TNC_ENST00000537320.1_Missense_Mutation_p.E451K|TNC_ENST00000341037.4_Missense_Mutation_p.E451K|TNC_ENST00000542877.1_Missense_Mutation_p.E451K|TNC_ENST00000423613.2_Missense_Mutation_p.E451K|TNC_ENST00000346706.3_Missense_Mutation_p.E451K|TNC_ENST00000345230.3_Missense_Mutation_p.E451K|TNC_ENST00000340094.3_Missense_Mutation_p.E451K|TNC_ENST00000535648.1_Missense_Mutation_p.E451K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	451	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTTGCCCTCGACACAGCGG	0.567																																					p.E451K		.											.	TNC-517	0			c.G1351A						.	C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	128	118	122		1351	-3	0	9		122	0,8600		0,0,4300	no	missense	TNC	NM_002160.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	451/2202	117848659	2,13004	2203	4300	6503	SO:0001583	missense	3371	exon3			TGCCCTCGACACA		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.1351G>A	9.37:g.117848659C>T	ENSP00000265131:p.Glu451Lys	Somatic	156	3		WXS	Illumina GAIIx	Phase_I	236	45	NM_002160	0	0	0	0	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801475	0.16397	4.54E-4	0.0	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93	5.82	-3.03	0.05429	Epidermal growth factor-like (1);	0.686652	0.15622	N	0.252813	T	0.02807	0.0084	N	0.21583	0.68	0.09310	N	1	B;B	0.19935	0.04;0.001	B;B	0.11329	0.006;0.001	T	0.36696	-0.9737	10	0.39692	T	0.17	.	12.9949	0.58640	0.0:0.5337:0.162:0.3044	.	451;451	E9PC84;P24821	.;TENA_HUMAN	K	451	ENSP00000344400:E451K;ENSP00000438152:E451K;ENSP00000344555:E451K;ENSP00000345861:E451K;ENSP00000265131:E451K;ENSP00000339553:E451K;ENSP00000411406:E451K;ENSP00000443478:E451K;ENSP00000442242:E451K	ENSP00000344400:E451K	E	-	1	0	TNC	116888480	0.001000	0.12720	0.010000	0.14722	0.125000	0.20455	0.018000	0.13422	-0.514000	0.06488	-0.384000	0.06662	GAG	.		0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117848659	C	T	117848659	3	4	5	1	0	0	0	0	1	0	0	0	16317	893	31	1	5358	1	TNC	9	117848659	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	682414	117848659	23364772	268	729											
RABGAP1	23637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125861009	125861009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttaaaagaaatgtgcCgtcgggaactcgacaaggca	12	8	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:125861009C>T	ENST00000373647.4	+	23	2883	c.2749C>T	c.(2749-2751)Cgt>Tgt	p.R917C	RABGAP1_ENST00000373643.5_Missense_Mutation_p.R256C	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	917					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						AGAAATGTGCCGTCGGGAACT	0.423																																					p.R917C		.											.	RABGAP1-500	0			c.C2749T						.						90	93	92					9																	125861009		2203	4300	6503	SO:0001583	missense	23637	exon23			ATGTGCCGTCGGG	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.2749C>T	9.37:g.125861009C>T	ENSP00000362751:p.Arg917Cys	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	97	30	NM_012197	0	0	18	21	3	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311174	0.81358	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.14893	3.18;2.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40117	-0.9580	10	0.72032	D	0.01	-17.5318	18.9705	0.92713	0.0:1.0:0.0:0.0	.	917	Q9Y3P9	RBGP1_HUMAN	C	917;256	ENSP00000362751:R917C;ENSP00000362747:R256C	ENSP00000362747:R256C	R	+	1	0	RABGAP1	124900830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.297000	0.51810	2.715000	0.92844	0.655000	0.94253	CGT	.		0.423	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		T	125861009	C	T	125861009	3	4	5	1	0	0	0	0	1	0	0	0	13009	652	23	1	2835	1	RABGAP1	9	125861009	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8012350	125861009	15352422	269	730											
CRB2	286204	hgsc.bcm.edu	37	chr9	126135831	126135831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcgcatcctgctggcTgagaacttcaccggctgctt	12	13	1	1	rs7848449	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:126135831T>C	ENST00000373631.3	+	10	3022	c.3021T>C	c.(3019-3021)gcT>gcC	p.A1007A	CRB2_ENST00000359999.3_Silent_p.A1007A|CRB2_ENST00000373629.2_Silent_p.A675A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1007	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCCTGCTGGCTGAGAACTTCA	0.766													C|||	691	0.137979	0.2436	0.1383	5008	,	,		8285	0.0556		0.0944	False		,,,				2504	0.1247				p.A1007A		.											.	CRB2-91	0			c.T3021C						.	C		511,2581		46,419,1081	6	6	6		3021	-6.8	0.9	9	dbSNP_116	6	457,5659		17,423,2618	no	coding-synonymous	CRB2	NM_173689.5		63,842,3699	CC,CT,TT		7.4722,16.5265,10.5126		1007/1286	126135831	968,8240	1546	3058	4604	SO:0001819	synonymous_variant	286204	exon10			GCTGGCTGAGAAC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3021T>C	9.37:g.126135831T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			T|0.886;C|0.114		0.766	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		C	126135831	T	C	126135831	2	2	5	1	0	0	0	0	0	0	0	1	3856	1567	55	4		4	CRB2	9	126135831	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	274822	126135831	15077600	270	731											
FAM129B	64855	hgsc.bcm.edu	37	chr9	130269566	130269571	+	In_Frame_Del	DEL	CCGCCC	CCGCCC	-													gggtgctggggctggggctgCcgcccccgccgctgttgctg					rs532028077	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CCGCCC	CCGCCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130269566_130269571delCCGCCC	ENST00000373312.3	-	14	2007_2012	c.1794_1799delGGGCGG	c.(1792-1800)gggggcggc>ggc	p.598_600GGG>G	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_In_Frame_Del_p.585_587GGG>G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	598					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTGGGGCTGCCGCCCCCGCCGCTGT	0.694														17	0.00339457	0.0121	0.0014	5008	,	,		15077	0		0	False		,,,				2504	0				p.598_600del		.											.	FAM129B-68	0			c.1794_1799del						.		,	31,4115		6,19,2048					,	-8.3	0			16	29,8021		13,3,4009	no	coding,coding	FAM129B	NM_022833.2,NM_001035534.1	,	19,22,6057	A1A1,A1R,RR		0.3602,0.7477,0.492	,	,		60,12136				SO:0001651	inframe_deletion	64855	exon14			GGGCTGCCGCCCC	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1794_1799delGGGCGG	9.37:g.130269566_130269571delCCGCCC	ENSP00000362409:p.Gly598_Gly599del	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	123	101	NM_022833	0	0	0	0	0	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	In_Frame_Del	DEL	ENST00000373312.3	37	CCDS35145.1																																																																																			.		0.694	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		-	130269571	CCGCCC	-	130269566	7	5	5	1	0	1	0	1	0	0	0	0	5456	739	26	0	445	0	FAM129B	9	130269566	In_Frame_Del	DEL	CCGCCC	TCGA-OR-A5J5-01A-11D-A29I-10	4133735	130269566	10943865	271	732											
FAM129B	64855	bcgsc.ca	37	chr9	130289573	130289573	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtgctggaagaggttccccGagaagacgatgcgctcgtcc	15	11	0	3	rs368490986		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130289573G>C	ENST00000373312.3	-	3	428	c.215C>G	c.(214-216)tCg>tGg	p.S72W	FAM129B_ENST00000373314.3_Missense_Mutation_p.S59W|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	72	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGTTCCCCGAGAAGACGAT	0.632																																					p.S72W		.											.	FAM129B-68	0			c.C215G						.						71	64	67					9																	130289573		2203	4300	6503	SO:0001583	missense	64855	exon3			TTCCCCGAGAAGA	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.215C>G	9.37:g.130289573G>C	ENSP00000362409:p.Ser72Trp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	147	5	NM_022833	0	0	7	7	0	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.296190	0.81025	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.19806	2.12;2.12	5.43	5.43	0.79202	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	T	0.25676	-1.0125	10	0.52906	T	0.07	-19.0697	16.7387	0.85454	0.0:0.0:1.0:0.0	.	59;72	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	59;72	ENSP00000362411:S59W;ENSP00000362409:S72W	ENSP00000362409:S72W	S	-	2	0	FAM129B	129329394	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	8.999000	0.93557	2.552000	0.86080	0.556000	0.70494	TCG	.		0.632	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		C	130289573	G	C	130289573	3	2	5	1	0	0	0	0	1	0	0	0	5456	1059	37	2	2073	2	FAM129B	9	130289573	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	20007	130289573	10923858	272	733											
DNM1	1759	bcgsc.ca	37	chr9	130984508	130984508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatccgggacacactgccGgggctgcggaacaagctgca	13	14	0	0	rs559572430	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:130984508G>A	ENST00000372923.3	+	7	974	c.882G>A	c.(880-882)ccG>ccA	p.P294P	DNM1_ENST00000393594.3_Silent_p.P294P|DNM1_ENST00000341179.7_Silent_p.P294P|DNM1_ENST00000486160.1_Silent_p.P294P|DNM1_ENST00000475805.1_Silent_p.P294P	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	294	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACACACTGCCGGGGCTGCGGA	0.582													G|||	2	0.000399361	0.0015	0	5008	,	,		15850	0		0	False		,,,				2504	0				.	GBM(113;146 1575 2722 28670 29921)	.											.	DNM1-228	0			.						.						98	91	94					9																	130984508		2203	4300	6503	SO:0001819	synonymous_variant	1759	.			ACTGCCGGGGCTG	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.882G>A	9.37:g.130984508G>A		Somatic	245	3		WXS	Illumina GAIIx	Phase_I	382	25	.	0	0	2	2	0	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																			.		0.582	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		A	130984508	G	A	130984508	2	1	5	1	0	0	0	0	0	0	0	1	4684	1103	39	1		1	DNM1	9	130984508	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	694935	130984508	10228923	273	734											
FIBCD1	84929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	133799257	133799257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtccagacagtctcgGggccgggagcctgagggagg	19	10	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:133799257G>A	ENST00000372338.4	-	4	965	c.723C>T	c.(721-723)ccC>ccT	p.P241P	FIBCD1_ENST00000448616.1_Silent_p.P241P|FIBCD1_ENST00000372337.2_Silent_p.P83P|FIBCD1_ENST00000253018.4_Silent_p.P83P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	241	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GACAGTCTCGGGGCCGGGAGC	0.632																																					p.P241P		.											.	FIBCD1-90	0			c.C723T						.						62	57	59					9																	133799257		2202	4299	6501	SO:0001819	synonymous_variant	84929	exon5			GTCTCGGGGCCGG	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.723C>T	9.37:g.133799257G>A		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	331	308	NM_001145106	0	0	0	0	0	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	6.254	0.414965	0.11870	.	.	ENSG00000130720	ENST00000444139	T	0.77229	-1.08	5.54	-6.44	0.01920	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47249	-0.9132	7	0.06891	T	0.86	.	4.7757	0.13178	0.1181:0.3409:0.401:0.14	.	.	.	.	L	195	ENSP00000395319:P195L	ENSP00000395319:P195L	P	-	2	0	FIBCD1	132789078	0.281000	0.24258	0.122000	0.21767	0.548000	0.35241	-0.524000	0.06222	-1.330000	0.02255	0.462000	0.41574	CCC	.		0.632	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		A	133799257	G	A	133799257	2	1	5	1	0	0	0	0	0	0	0	1	5906	1219	43	3		3	FIBCD1	9	133799257	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2814749	133799257	7414174	274	735											
BAT2L1	84726	broad.mit.edu	37	chr9	134351684	134351685	+	Frame_Shift_Ins	INS	-	-	G													cagcgagcggcgggagcggcINSgggaaggccctgggtccgag					rs376130854		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:134351684_134351685insG	ENST00000357304.4	+	15	4223_4224	c.4168_4169insG	c.(4168-4170)cggfs	p.R1390fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1390							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCGGGAGCGGCGGGAAGGCCCT	0.649											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1390fs		.											.	PRRC2B-24	0			c.4168_4169insG						.			25,3565		0,25,1770						5.9	1			12	73,7729		0,73,3828	no	frameshift	PRRC2B	NM_013318.3		0,98,5598	A1A1,A1R,RR		0.9357,0.6964,0.8603				98,11294				SO:0001589	frameshift_variant	84726	exon15			GAGCGGCGGGAAG	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4171dupG	9.37:g.134351687_134351687dupG	ENSP00000349856:p.Arg1390fs	Somatic	13	0	1610	WXS	Illumina GAIIx	Phase_I	159	16	NM_013318	0	0	0	0	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Ins	INS	ENST00000357304.4	37	CCDS48044.1																																																																																			.		0.649	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	134351685	-	G	134351684	7	5	5	1	0	1	1	0	0	0	0	0	1321	759	27	0	4226	0	BAT2L1	9	134351684	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	552427	134351684	6861747	275	736											
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu	37	chr9	138719314	138719315	+	Frame_Shift_Ins	INS	-	-	G													ccttccgccggcagctgcacINSggggggctgcagctcagcca							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:138719314_138719315insG	ENST00000389532.4	-	8	1225_1226	c.1161_1162insC	c.(1159-1164)cccgtgfs	p.V388fs	CAMSAP1_ENST00000483991.1_5'Flank|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.V399fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.V110fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	388					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)		GGCAGCTGCACGGGGGGCTGCA	0.594																																					p.V388fs		.											.	CAMSAP1-92	0			c.1162_1163insC						.																																			SO:0001589	frameshift_variant	157922	exon8			GCTGCACGGGGGG	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.1162dupC	9.37:g.138719320_138719320dupG	ENSP00000374183:p.Val388fs	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	178	19	NM_015447	0	0	0	0	0	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	CCDS35176.2																																																																																			.		0.594	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		G	138719315	-	G	138719314	7	5	5	1	0	1	1	0	0	0	0	0	2618	536	19	0	3686	0	CAMSAP1	9	138719314	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	4367630	138719314	2494117	276	737											
SDCCAG3	10807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139299638	139299638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttgcttctaacttccGctcaagcgtcctcacccttg	5	15	3	0	rs200655256		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139299638G>A	ENST00000357365.3	-	7	1039	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.R281W|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R231W	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	304			R -> Q (in dbSNP:rs3812577). {ECO:0000269|Ref.1}.			cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCTAACTTCCGCTCAAGCGTC	0.458													G|||	1	0.000199681	0	0.0014	5008	,	,		19200	0		0	False		,,,				2504	0				p.R304W		.											.	SDCCAG3-90	0			c.C910T						.						114	107	109					9																	139299638		1890	4114	6004	SO:0001583	missense	10807	exon7			ACTTCCGCTCAAG	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.910C>T	9.37:g.139299638G>A	ENSP00000349929:p.Arg304Trp	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	118	112	NM_001039707	0	0	0	25	25	A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	CCDS43904.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.46	2.841600	0.51057	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725	T;T;T	0.79352	-1.26;-1.26;-1.26	4.53	3.55	0.40652	.	0.192442	0.43919	D	0.000513	D	0.85013	0.5600	M	0.71581	2.175	0.41019	D	0.985069	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.986;0.993;0.993	D	0.86178	0.1604	10	0.87932	D	0	-15.0759	10.1412	0.42736	0.0:0.0:0.6314:0.3686	.	231;281;304	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	W	304;281;231	ENSP00000349929:R304W;ENSP00000298537:R281W;ENSP00000360790:R231W	ENSP00000298537:R281W	R	-	1	2	SDCCAG3	138419459	1.000000	0.71417	0.999000	0.59377	0.296000	0.27459	2.843000	0.48238	2.218000	0.71995	0.563000	0.77884	CGG	G|0.999;A|0.000		0.458	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		A	139299638	G	A	139299638	3	1	5	1	0	0	0	0	1	0	0	0	14003	1086	38	1	413	1	SDCCAG3	9	139299638	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	580324	139299638	1913793	277	738											
NOTCH1	4851	hgsc.bcm.edu	37	chr9	139400219	139400219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcggggcccgtgaaggGgcccaggcacaggcaggtgg	19	11	0	1	rs61751542	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139400219G>A	ENST00000277541.6	-	25	4204	c.4129C>T	c.(4129-4131)Ccc>Tcc	p.P1377S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1377	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)		CCCGTGAAGGGGCCCAGGCAC	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G|||	32	0.00638978	0.0023	0.013	5008	,	,		12596	0		0.0199	False		,,,				2504	0				p.P1377S		.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1-5459	0			c.C4129T						.	G	SER/PRO	11,3633		0,11,1811	10	13	12		4129	-2.5	0.1	9	dbSNP_129	12	186,7758		1,184,3787	no	missense	NOTCH1	NM_017617.3	74	1,195,5598	AA,AG,GG		2.3414,0.3019,1.7	benign	1377/2556	139400219	197,11391	1822	3972	5794	SO:0001583	missense	4851	exon25			TGAAGGGGCCCAG	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.4129C>T	9.37:g.139400219G>A	ENSP00000277541:p.Pro1377Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_017617	0	0	0	2	2	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	19	0.0086996336996337	2	0.0040650406504065045	5	0.013812154696132596	0	0.0	12	0.0158311345646438	G	0.224	-1.026363	0.02045	0.003019	0.023414	ENSG00000148400	ENST00000277541	D	0.96104	-3.91	4.73	-2.49	0.06403	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.409618	0.22755	N	0.056033	T	0.79724	0.4495	N	0.10837	0.055	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.71094	-0.4692	10	0.52906	T	0.07	.	12.2794	0.54755	0.1533:0.663:0.1836:0.0	rs61751542	1377	P46531	NOTC1_HUMAN	S	1377	ENSP00000277541:P1377S	ENSP00000277541:P1377S	P	-	1	0	NOTCH1	138520040	0.001000	0.12720	0.051000	0.19133	0.189000	0.23516	-0.105000	0.10907	-0.995000	0.03459	-0.189000	0.12847	CCC	G|0.990;A|0.010		0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139400219	G	A	139400219	3	1	5	1	0	0	0	0	1	0	0	0	10586	1232	43	3	3578	3	NOTCH1	9	139400219	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	100581	139400219	1813212	278	739											
LCN10	414332	broad.mit.edu	37	chr9	139634004	139634004	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggtgtgtgtacgggaCgctgtgggagaggaaaacag	19	4	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139634004C>T	ENST00000474369.1	-	5	536	c.537G>A	c.(535-537)gcG>gcA	p.A179A	LCN10_ENST00000497771.1_Splice_Site_p.A192A|LCN10_ENST00000527229.1_Splice_Site_p.A156A|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_3'UTR			Q6JVE6	LCN10_HUMAN	lipocalin 10	179					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTGTACGGGACGCTGTGGGAG	0.617																																					p.A192A		.											.	LCN10-67	0			c.G576A						.						92	77	82					9																	139634004		2198	4292	6490	SO:0001630	splice_region_variant	414332	exon6			ACGGGACGCTGTG	AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.536-1G>A	9.37:g.139634004C>T		Somatic	139	1		WXS	Illumina GAIIx	Phase_I	314	7	NM_001001712	0	0	0	0	0	A2RUU3|B0QZ79	Silent	SNP	ENST00000474369.1	37	CCDS35182.2																																																																																			.		0.617	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712	Silent	T	139634004	C	T	139634004	5	4	5	1	0	0	0	0	0	0	1	0	8709	550	19	1	30	1	LCN10	9	139634004	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	233785	139634004	1579427	279	740											
MAMDC4	29085	hgsc.bcm.edu;bcgsc.ca	37	chr9	139748110	139748110	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaggctctggtaccacGcggcctctggaggtgcaccc	14	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:139748110G>A	ENST00000247665.10	+	0	890				MAMDC4_ENST00000317446.2_Missense_Mutation_p.A148T|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A148T	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGTACCACGCGGCCTCTGG	0.701																																					p.A148T		.											.	MAMDC4-156	0			c.G442A						.						22	23	23					9																	139748110		2195	4295	6490	SO:0001628	intergenic_variant	158056	exon4			TACCACGCGGCCT	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748110G>A		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	136	131	NM_206920	0	0	0	3	3	B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.152|6.152	0.396176|0.396176	0.11638|0.11638	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02121|.	4.44;4.44|.	4.52|4.52	-1.18|-1.18	0.09617|0.09617	.|.	1.902590|.	0.02805|.	N|.	0.123613|.	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|5	0.52906|.	T|.	0.07|.	-0.2222|-0.2222	4.9827|4.9827	0.14175|0.14175	0.5331:0.1613:0.3056:0.0|0.5331:0.1613:0.3056:0.0	.|.	148|.	Q6UXC1-2|.	.|.	T|H	148|129	ENSP00000319388:A148T;ENSP00000411339:A148T|.	ENSP00000319388:A148T|.	A|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138867931|138867931	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.067000|0.067000	0.16453|0.16453	0.060000|0.060000	0.14342|0.14342	-0.179000|-0.179000	0.10654|0.10654	-0.424000|-0.424000	0.05967|0.05967	GCG|CGC	.		0.701	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		A	139748110	G	A	139748110	1	1	5	0	1	0	0	0	0	0	0	0	9242	1087	38	1		1	MAMDC4	9	139748110	IGR	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	114106	139748110	1465321	280	741											
PNPLA7	375775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140373513	140373513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccgcctcaccagctTgggcaggctcctcctggaga	10	18	2	1	rs534417123		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr9:140373513T>C	ENST00000277531.4	-	23	2869	c.2683A>G	c.(2683-2685)Aag>Gag	p.K895E	PNPLA7_ENST00000406427.1_Missense_Mutation_p.K920E|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.K501E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	895				SLPKL -> RLLPQ (in Ref. 1; BAC56931). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCACCAGCTTGGGCAGGCTC	0.652													T|||	1	0.000199681	0	0	5008	,	,		17167	0		0	False		,,,				2504	0.001				p.K920E		.											.	PNPLA7-91	0			c.A2758G						.						15	17	16					9																	140373513		2190	4285	6475	SO:0001583	missense	375775	exon24			CCAGCTTGGGCAG	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2683A>G	9.37:g.140373513T>C	ENSP00000277531:p.Lys895Glu	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	308	49	NM_001098537	0	0	0	0	0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	9.885	1.202568	0.22121	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.94	1.16	0.20824	.	0.165698	0.52532	D	0.000061	T	0.35008	0.0917	M	0.62723	1.935	0.58432	D	0.99999	P;D;B;B	0.61697	0.506;0.99;0.159;0.065	B;P;B;B	0.56216	0.292;0.794;0.142;0.027	T	0.04509	-1.0946	10	0.54805	T	0.06	-21.0475	7.3882	0.26895	0.0:0.0722:0.2703:0.6574	.	303;920;895;161	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	E	501;303;895;920;895;886	ENSP00000360512:K501E;ENSP00000360501:K303E;ENSP00000277531:K895E;ENSP00000384610:K920E;ENSP00000400582:K886E	ENSP00000277531:K895E	K	-	1	0	PNPLA7	139493334	1.000000	0.71417	0.996000	0.52242	0.278000	0.26855	3.297000	0.51810	-0.041000	0.13558	-2.463000	0.00205	AAG	.		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		C	140373513	T	C	140373513	3	2	5	1	0	0	0	0	1	0	0	0	12209	1821	63	4	1318	4	PNPLA7	9	140373513	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	625403	140373513	839918	281	742											
AKR1C3	8644	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	5139659	5139659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgaccagagttggtcCgaccagccttggaaaactca	9	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:5139659C>T	ENST00000380554.3	+	3	938	c.286C>T	c.(286-288)Cga>Tga	p.R96*	AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R73*|AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	96					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	AGAGTTGGTCCGACCAGCCTT	0.403																																					p.R96X		.											.	AKR1C3-515	0			c.C286T						.						139	133	135					10																	5139659		2203	4300	6503	SO:0001587	stop_gained	8644	exon3			TTGGTCCGACCAG	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.286C>T	10.37:g.5139659C>T	ENSP00000369927:p.Arg96*	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	149	9	NM_001253908	0	0	58	58	0	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Nonsense_Mutation	SNP	ENST00000380554.3	37	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	C	38	6.956721	0.97964	.	.	ENSG00000196139	ENST00000380554	.	.	.	1.79	0.743	0.18347	.	0.384738	0.21043	N	0.081124	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8022	0.23758	0.2933:0.7067:0.0:0.0	.	.	.	.	X	96	.	ENSP00000369927:R96X	R	+	1	2	AKR1C3	5129659	0.000000	0.05858	0.031000	0.17742	0.782000	0.44232	0.643000	0.24750	0.237000	0.21200	0.484000	0.47621	CGA	.		0.403	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		T	5139659	C	T	5139659	4	4	5	1	0	0	0	0	0	1	0	0	471	644	23	1	296	1	AKR1C3	10	5139659	Nonsense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		5139659	130395088	282	743											
CALML3	810	bcgsc.ca	37	chr10	5567320	5567320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatccgcgaggccttccGcgtgttcgacaaggacggca	15	12	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:5567320G>A	ENST00000315238.1	+	1	397	c.272G>A	c.(271-273)cGc>cAc	p.R91H	CALML3-AS1_ENST00000543008.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	91	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						GAGGCCTTCCGCGTGTTCGAC	0.652																																					p.R91H	Colon(173;2070 2647 27580 52203)	.											.	CALML3-90	0			c.G272A						.						111	72	85					10																	5567320		2203	4300	6503	SO:0001583	missense	810	exon1			CCTTCCGCGTGTT	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.272G>A	10.37:g.5567320G>A	ENSP00000315299:p.Arg91His	Somatic	35	2		WXS	Illumina GAIIx	Phase_I	248	171	NM_005185	0	0	0	0	0	B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220174	0.58560	.	.	ENSG00000178363	ENST00000315238	D	0.86164	-2.08	5.1	4.2	0.49525	EF-hand-like domain (1);	0.132073	0.35207	N	0.003380	D	0.85729	0.5764	M	0.85462	2.755	0.53688	D	0.999975	P	0.41624	0.757	B	0.31337	0.128	D	0.86348	0.1709	10	0.66056	D	0.02	-25.2266	12.1425	0.54007	0.0838:0.0:0.9162:0.0	.	91	P27482	CALL3_HUMAN	H	91	ENSP00000315299:R91H	ENSP00000315299:R91H	R	+	2	0	CALML3	5557320	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	6.721000	0.74728	1.153000	0.42468	0.462000	0.41574	CGC	.		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		A	5567320	G	A	5567320	3	1	5	1	0	0	0	0	1	0	0	0	2594	1087	38	1	274	1	CALML3	10	5567320	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	427661	5567320	129967427	283	744											
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7768994	7768994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatttcaaccagaacattCgaacttggagaaatgattta	7	6	1	4	rs545967088		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:7768994C>T	ENST00000358415.4	+	10	1232	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.R345*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	356	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAACATTCGAACTTGGAG	0.398													C|||	1	0.000199681	0	0	5008	,	,		21216	0		0	False		,,,				2504	0.001				p.R356X		.											.	ITIH2-93	0			c.C1066T						.						106	103	104					10																	7768994		2203	4300	6503	SO:0001587	stop_gained	3698	exon10			AACATTCGAACTT	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1066C>T	10.37:g.7768994C>T	ENSP00000351190:p.Arg356*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	88	53	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Nonsense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407126	0.62399	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	.	.	.	5.09	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.864	15.3286	0.74186	0.3726:0.6274:0.0:0.0	.	.	.	.	X	356;345	.	ENSP00000351190:R356X	R	+	1	2	ITIH2	7809000	1.000000	0.71417	0.514000	0.27761	0.062000	0.15995	2.276000	0.43408	0.512000	0.28257	-0.332000	0.08345	CGA	.		0.398	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7768994	C	T	7768994	4	4	5	1	0	0	0	0	0	1	0	0	7931	876	31	1	1104	1	ITIH2	10	7768994	Nonsense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2201674	7768994	127765753	284	745											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	16994285	16994285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacttacatggaggttgCgcttgaatgatccagctgca	11	8	0	2	rs577984421		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:16994285C>T	ENST00000377833.4	-	33	5024	c.4959G>A	c.(4957-4959)gcG>gcA	p.A1653A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1653	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)	ATGGAGGTTGCGCTTGAATGA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		18641	0		0	False		,,,				2504	0				p.A1653A		.											.	CUBN-166	0			c.G4959A						.						212	195	201					10																	16994285		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon33			AGGTTGCGCTTGA	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.4959G>A	10.37:g.16994285C>T		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	189	62	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			.		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16994285	C	T	16994285	2	4	5	1	0	0	0	0	0	0	0	1	4060	755	27	1		1	CUBN	10	16994285	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	9225291	16994285	118540462	285	746											
PTPLA	9200	hgsc.bcm.edu	37	chr10	17659149	17659149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacccccaggcgcctccgctCgccgggagcctcccggtcct	12	21	0	0	rs7895850	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:17659149C>G	ENST00000361271.3	-	1	227	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PTPLA_ENST00000326961.6_Missense_Mutation_p.E64Q	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	64			E -> K (in dbSNP:rs7895850). {ECO:0000269|PubMed:10644438, ECO:0000269|PubMed:11054553, ECO:0000269|PubMed:15489334}.|E -> Q (in dbSNP:rs7895850). {ECO:0000269|PubMed:11054553}.		fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGCCTCCGCTCGCCGGGAGCC	0.766													T|||	543	0.108427	0.0401	0.121	5008	,	,		6575	0.2321		0.1103	False		,,,				2504	0.0624				p.E64Q		.											.	PTPLA-226	0			c.G190C						.	T	LYS/GLN/GLU	2648,64,0		1292,64,0,0,0,0	2	4	4		190	2	0.1	10	dbSNP_116	4	4685,237,0		2230,225,0,6,0,0	no	missense	PTPLA	NM_014241.3	29,56	3522,289,0,6,0,0	TT,TG,TC,GG,GC,CC		4.8151,2.3599,3.9429	benign	64/289	17659149	7333,301,0	1356	2461	3817	SO:0001583	missense	9200	exon1			TCCGCTCGCCGGG	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.190G>C	10.37:g.17659149C>G	ENSP00000355308:p.Glu64Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_014241	0	0	0	0	0	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	T	6.487	0.458102	0.12342	0.023599	0.0481510000000001	ENSG00000165996	ENST00000361271;ENST00000326961	T;T	0.19105	2.75;2.17	3.35	2.04	0.26737	.	0.660756	0.13666	N	0.371221	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.23854	0.092;0.009;0.007	B;B;B	0.12837	0.008;0.001;0.002	T	0.33137	-0.9880	10	0.24483	T	0.36	-20.0823	3.214	0.06692	0.0:0.1393:0.2442:0.6165	.	64;64;64	A6NP58;B0YJ81-2;B0YJ81	.;.;HACD1_HUMAN	Q	64	ENSP00000355308:E64Q;ENSP00000322923:E64Q	ENSP00000322923:E64Q	E	-	1	0	PTPLA	17699155	1.000000	0.71417	0.050000	0.19076	0.003000	0.03518	1.138000	0.31491	0.439000	0.26476	-0.381000	0.06696	GAG	C|0.007;G|0.002;T|0.991		0.766	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		G	17659149	C	G	17659149	3	3	5	1	0	0	0	0	1	0	0	0	12817	893	31	2	704	2	PTPLA	10	17659149	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	664864	17659149	117875598	286	747											
GPR158	57512	hgsc.bcm.edu	37	chr10	25465062	25465062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacttacaccgccgcgGccccaatcaggggccccggg	12	20	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:25465062G>A	ENST00000376351.3	+	1	1072	c.713G>A	c.(712-714)gGc>gAc	p.G238D	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	238					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACCGCCGCGGCCCCAATCAG	0.701																																					p.G238D		.											.	GPR158-141	0			c.G713A						.						7	9	9					10																	25465062		2119	4170	6289	SO:0001583	missense	57512	exon1			GCCGCGGCCCCAA	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.713G>A	10.37:g.25465062G>A	ENSP00000365529:p.Gly238Asp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	26	19	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724539	0.48728	.	.	ENSG00000151025	ENST00000376351	T	0.60920	0.15	5.09	4.16	0.48862	.	0.304166	0.27415	N	0.019479	T	0.48978	0.1530	L	0.36672	1.1	0.36578	D	0.873362	B	0.24823	0.112	B	0.22880	0.042	T	0.57412	-0.7816	10	0.66056	D	0.02	.	14.6262	0.68624	0.0:0.1463:0.8537:0.0	.	238	Q5T848	GP158_HUMAN	D	238	ENSP00000365529:G238D	ENSP00000365529:G238D	G	+	2	0	GPR158	25505068	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.497000	0.60367	1.329000	0.45376	0.655000	0.94253	GGC	.		0.701	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25465062	G	A	25465062	3	1	5	1	0	0	0	0	1	0	0	0	6689	1203	42	3	715	3	GPR158	10	25465062	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7805913	25465062	110069685	287	748											
PARD3	56288	broad.mit.edu	37	chr10	34663856	34663856	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaccagaaggctcacagtTccttccatcttggtgcttct	8	12	3	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:34663856T>A	ENST00000374789.3	-	11	1939	c.1614A>T	c.(1612-1614)ggA>ggT	p.G538G	PARD3_ENST00000545693.1_Silent_p.G538G|PARD3_ENST00000545260.1_Silent_p.G494G|PARD3_ENST00000374788.3_Silent_p.G538G|PARD3_ENST00000374776.1_Silent_p.G538G|PARD3_ENST00000346874.4_Silent_p.G538G|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000374773.1_Silent_p.G538G|PARD3_ENST00000350537.4_Silent_p.G538G|PARD3_ENST00000374794.3_Silent_p.G494G|PARD3_ENST00000544292.1_Silent_p.G268G|PARD3_ENST00000340077.5_Silent_p.G538G|PARD3_ENST00000374790.3_Silent_p.G494G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCTCACAGTTCCTTCCATCT	0.438																																					p.G538G		.											.	PARD3-92	0			c.A1614T						.						157	153	154					10																	34663856		2203	4300	6503	SO:0001819	synonymous_variant	56288	exon11			CACAGTTCCTTCC	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.1614A>T	10.37:g.34663856T>A		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	120	5	NM_001184788	0	0	0	0	0	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																			.		0.438	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		A	34663856	T	A	34663856	2	1	5	1	0	0	0	0	0	0	0	1	11482	1770	62	5		5	PARD3	10	34663856	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	9198794	34663856	100870891	288	749											
BMS1	9790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	43285924	43285924	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagaagacaaagaagCgattaaaacacaggttctgg	10	6	1	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:43285924C>T	ENST00000374518.5	+	5	664	c.601C>T	c.(601-603)Cga>Tga	p.R201*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	201	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GACAAAGAAGCGATTAAAACA	0.393																																					p.R201X		.											.	BMS1-93	0			c.C601T						.						77	77	77					10																	43285924		2203	4300	6503	SO:0001587	stop_gained	9790	exon5			AAGAAGCGATTAA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.601C>T	10.37:g.43285924C>T	ENSP00000363642:p.Arg201*	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	76	7	NM_014753	0	0	7	7	0	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	37	6.412280	0.97546	.	.	ENSG00000165733	ENST00000374518	.	.	.	5.4	2.11	0.27256	.	0.250189	0.42821	D	0.000648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.237	0.59974	0.7066:0.2934:0.0:0.0	.	.	.	.	X	201	.	ENSP00000363642:R201X	R	+	1	2	BMS1	42605930	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.157000	0.42320	0.627000	0.30340	0.491000	0.48974	CGA	.		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		T	43285924	C	T	43285924	4	4	5	1	0	0	0	0	0	1	0	0	1474	760	27	1	615	1	BMS1	10	43285924	Nonsense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8622068	43285924	92248823	289	750											
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	43622076	43622076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccctgatttatgacgaCggcctctcagaggaggagac	12	11	1	4	rs369116900		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:43622076C>T	ENST00000355710.3	+	19	3325	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	RET_ENST00000340058.5_Silent_p.D1031D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1031					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)	TTTATGACGACGGCCTCTCAG	0.542		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.D1031D	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"	.	RET-4507	0			c.C3093T						.	C	,	0,4406		0,0,2203	178	170	173		3093,3093	-8.3	0.4	10		173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1031/1073,1031/1115	43622076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5979	exon19	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	TGACGACGGCCTC	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.3093C>T	10.37:g.43622076C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	90	26	NM_020630	0	0	3	6	3	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																			.		0.542	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43622076	C	T	43622076	2	4	5	1	0	0	0	0	0	0	0	1	13280	535	19	1		1	RET	10	43622076	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	336152	43622076	91912671	290	751											
PTPN20A	653129	hgsc.bcm.edu	37	chr10	46584455	46584455	+	Frame_Shift_Del	DEL	T	T	-													gaagaatatctcggtatctgTttttttctctgttgcttggt							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:46584455delT	ENST00000374339.3	-	6	636	c.560delA	c.(559-561)aacfs	p.N187fs	PTPN20A_ENST00000374340.3_5'UTR|PTPN20A_ENST00000502254.1_Intron|PTPN20A_ENST00000511769.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000505814.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000513156.1_Intron|PTPN20A_ENST00000509900.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395727.2_Intron|PTPN20A_ENST00000395725.3_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000503851.1_Intron|PTPN20A_ENST00000374218.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000506080.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000374346.3_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000374342.2_Intron|PTPN20A_ENST00000437863.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000395721.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000509774.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000502705.1_Intron|PTPN20A_ENST00000509599.1_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000508602.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000513266.1_Intron|PTPN20A_ENST00000395722.3_Intron			Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type 20A	187	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)								Kidney(211;0.201)		TCGGTATCTGTTTTTTTCTCT	0.308																																					p.N187fs		.											.	.	0			c.560delA						.						5	4	5					10																	46584455		747	484	1231	SO:0001589	frameshift_variant	26095	exon7			TATCTGTTTTTTT			10q11.22	2011-06-09			ENSG00000204179	ENSG00000204179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	23422	protein-coding gene	gene with protein product	"cancer/testis antigen 126"						Standard			Approved	bA142I17.1, CT126		Q4JDL3	OTTHUMG00000018094	ENST00000374339.3:c.560delA	10.37:g.46584455delT	ENSP00000363459:p.Asn187fs	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	80	33	NM_015605	0	0	0	0	0	A6NNH8|B7ZKV3|Q4JDG6|Q4JDK1|Q4JDK5|Q4JDK6|Q4JDK8|Q4JDK9|Q4JDL0|Q4JDL1|Q4JDL4|Q4JDL5|Q4JDL6|Q4JDL7|Q4JDL8|Q5RJ33|Q5T1G3	Frame_Shift_Del	DEL	ENST00000374339.3	37	CCDS31190.1																																																																																			.		0.308	PTPN20A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358639.1			-	46584455	T	-	46584455	7	5	5	1	0	1	0	1	0	0	0	0	12829	1725	60	0	722	0	PTPN20A	10	46584455	Frame_Shift_Del	DEL	T	TCGA-OR-A5J5-01A-11D-A29I-10	2962379	46584455	88950292	291	752											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_014696	0	0	1	1	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	5	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	415762	47000217	88534530	292	753											
PPYR1	5540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	47087520	47087520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgcagaggcaggggcGcgtgtttcacaagggcacct	16	12	1	1	rs115443559	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:47087520G>A	ENST00000395716.1	+	2	822	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R246H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	246					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)										AGGCAGGGGCGCGTGTTTCAC	0.592													G|||	21	0.00419329	0.0015	0	5008	,	,		37940	0.0179		0.001	False		,,,				2504	0				p.R246H		.											.	PPYR1-524	0			c.G737A						.	G	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	155	121	133		737	-7.3	0	10	dbSNP_132	133	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPYR1	NM_005972.4	29	0,9,6494	AA,AG,GG		0.0233,0.1589,0.0692	benign	246/376	47087520	9,12997	2203	4300	6503	SO:0001583	missense	5540	exon3			AGGGGCGCGTGTT		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.737G>A	10.37:g.47087520G>A	ENSP00000379066:p.Arg246His	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	153	26	NM_005972	0	0	0	0	0	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805101	0.16467	0.001589	2.33E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.42513	0.97;0.97	5.12	-7.31	0.01441	GPCR, rhodopsin-like superfamily (1);	0.634744	0.15885	N	0.239827	T	0.30198	0.0757	L	0.41710	1.295	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.03555	-1.1025	10	0.39692	T	0.17	.	16.7815	0.85564	0.8315:0.0:0.1685:0.0	.	246	P50391	NPY4R_HUMAN	H	246	ENSP00000363431:R246H;ENSP00000379066:R246H	ENSP00000363431:R246H	R	+	2	0	PPYR1	46507526	0.688000	0.27680	0.000000	0.03702	0.137000	0.21094	0.635000	0.24629	-1.438000	0.01965	-0.170000	0.13304	CGC	G|0.999;A|0.001		0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			A	47087520	G	A	47087520	3	1	5	1	0	0	0	0	1	0	0	0	12458	1087	38	1	739	1	PPYR1	10	47087520	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	87303	47087520	88447227	293	754											
C10orf71	118461	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr10	50533416	50533416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggaccctgggcaggggtcGagcatggccaggatggaggc	20	9	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:50533416G>A	ENST00000374144.3	+	3	3114	c.2826G>A	c.(2824-2826)tcG>tcA	p.S942S	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	942										endometrium(1)	1						GGCAGGGGTCGAGCATGGCCA	0.597																																					p.S942S		.											.	C10orf71-90	0			c.G2826A						.						10	12	12					10																	50533416		692	1589	2281	SO:0001819	synonymous_variant	118461	exon3			GGGGTCGAGCATG	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.2826G>A	10.37:g.50533416G>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	127	83	NM_001135196	0	0	0	0	0	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																			.		0.597	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50533416	G	A	50533416	2	1	5	1	0	0	0	0	0	0	0	1	1619	1045	37	1		1	C10orf71	10	50533416	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3445896	50533416	85001331	294	755											
DRGX	644168	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	50574313	50574313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcttctgagtgctcgcGggccttcatgcgcagggtgg	16	11	2	1	rs370735058		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:50574313G>A	ENST00000374139.2	-	6	650	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	DRGX_ENST00000434016.1_Missense_Mutation_p.R219C			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	214					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGTGCTCGCGGGCCTTCATG	0.672																																					.		.											.	.	0			.						.						55	65	62					10																	50574313		2142	4230	6372	SO:0001583	missense	644168	.			GCTCGCGGGCCTT		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.640C>T	10.37:g.50574313G>A	ENSP00000363254:p.Arg214Cys	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	127	79	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000374139.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.184657	0.78677	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95001	-3.58;-3.58	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95552	0.8621	10	0.87932	D	0	.	15.8377	0.78811	0.0:0.0:0.8639:0.1361	.	219	C9JW76	.	C	214;219	ENSP00000363254:R214C;ENSP00000401653:R219C	ENSP00000363254:R214C	R	-	1	0	DRGX	50244319	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	3.407000	0.52644	2.595000	0.87683	0.655000	0.94253	CGC	.		0.672	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		A	50574313	G	A	50574313	3	1	5	1	0	0	0	0	1	0	0	0	4777	1116	39	1	154	1	DRGX	10	50574313	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	40897	50574313	84960434	295	756											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	55587306	55587306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtacactcagcttgaCgtcttggataaagtaaggat	9	7	3	1	rs143538460		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:55587306C>T	ENST00000320301.6	-	32	4608	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	PCDH15_ENST00000395438.1_Missense_Mutation_p.R1405H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1407H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1405H|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1412H|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1365H|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1402H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1412H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1334H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1380H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1016H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1405					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)				CTCAGCTTGACGTCTTGGATA	0.498										HNSCC(58;0.16)																											p.R1410H		.											.	PCDH15-193	0			c.G4229A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	78	78		4229,4214,4001,4205,4094,4148,4250,4214,4229,4214,4139,4214	5.4	1	10	dbSNP_134	78	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1410/1963,1405/1958,1334/1887,1402/1953,1365/1916,1383/1936,1417/1791,1405/1540,1410/1683,1405/1678,1380/1933,1405/1956	55587306	1,13005	2203	4300	6503	SO:0001583	missense	65217	exon33			GCTTGACGTCTTG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4214G>A	10.37:g.55587306C>T	ENSP00000322604:p.Arg1405His	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	105	29	NM_001142763	0	0	2	2	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073745	0.94000	2.27E-4	0.0	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.66638	0.41;0.24;0.38;0.39;0.36;-0.16;0.21;-0.12;0.21;-0.2;-0.22	5.39	5.39	0.77823	.	.	.	.	.	T	0.75774	0.3895	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.996;0.999;0.999;0.997;0.998;0.996;0.996;0.998;0.999;0.999	T	0.77547	-0.2547	9	0.66056	D	0.02	.	19.1073	0.93301	0.0:1.0:0.0:0.0	.	1380;1405;1405;1410;1334;1365;1402;1405;1412;1412;1405;1407;1405	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1412;1407;1405;1405;1016;1412;1365;1405;1380;1405;1402;1410;1334	ENSP00000363076:R1412H;ENSP00000410304:R1407H;ENSP00000378826:R1405H;ENSP00000386693:R1016H;ENSP00000378832:R1412H;ENSP00000378820:R1365H;ENSP00000354950:R1405H;ENSP00000378821:R1380H;ENSP00000322604:R1405H;ENSP00000378818:R1402H;ENSP00000412628:R1334H	ENSP00000322604:R1405H	R	-	2	0	PCDH15	55257312	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.840000	0.75369	2.676000	0.91093	0.561000	0.74099	CGT	C|1.000;T|0.000		0.498	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55587306	C	T	55587306	3	4	5	1	0	0	0	0	1	0	0	0	11550	536	19	1	3280	1	PCDH15	10	55587306	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5012993	55587306	79947441	296	757											
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	61012730	61012730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttggcttccctgtggaCggtcttcatcagagtcctct	11	11	4	1	rs369226393		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:61012730C>T	ENST00000373868.2	-	12	1448	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FAM13C_ENST00000419214.2_Missense_Mutation_p.R356H|FAM13C_ENST00000442566.3_Missense_Mutation_p.R475H|FAM13C_ENST00000373867.3_Missense_Mutation_p.R370H|FAM13C_ENST00000468840.2_Missense_Mutation_p.R371H|FAM13C_ENST00000435852.2_Missense_Mutation_p.R454H|FAM13C_ENST00000277705.6_Missense_Mutation_p.R474H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	454										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGTGGACGGTCTTCATC	0.483																																					p.R454H		.											.	FAM13C-70	0			c.G1361A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	171	158	162		1067,1112,1109,1361	-2.1	0.9	10		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	356/488,371/503,370/502,454/586	61012730	1,13005	2203	4300	6503	SO:0001583	missense	220965	exon12			TGTGGACGGTCTT	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1361G>A	10.37:g.61012730C>T	ENSP00000362975:p.Arg454His	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	262	72	NM_198215	0	0	4	4	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885318	0.33255	0.0	1.16E-4	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.43294	0.97;0.98;0.95;0.97;1.0	5.72	-2.12	0.07165	.	0.861912	0.10625	N	0.652873	T	0.14141	0.0342	N	0.01352	-0.895	0.19300	N	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.22277	-1.0221	10	0.40728	T	0.16	2.668	7.212	0.25939	0.0:0.3619:0.1833:0.4548	.	454;370;356;454	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	H	370;454;475;474;356;371;454	ENSP00000362975:R454H;ENSP00000395661:R475H;ENSP00000277705:R474H;ENSP00000391993:R356H;ENSP00000392302:R454H	ENSP00000277705:R474H	R	-	2	0	FAM13C	60682736	0.026000	0.19158	0.931000	0.37212	0.670000	0.39368	-0.088000	0.11198	-0.257000	0.09459	-0.940000	0.02684	CGT	.		0.483	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			T	61012730	C	T	61012730	3	4	5	1	0	0	0	0	1	0	0	0	5473	536	19	1	408	1	FAM13C	10	61012730	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5425424	61012730	74522017	297	758											
SUPV3L1	6832	broad.mit.edu	37	chr10	70967601	70967601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacctttgcatggttacgccGatacatcaaatggcctttac	8	11	1	0	rs574864266		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:70967601G>A	ENST00000359655.4	+	14	1889	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	610					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTTACGCCGATACATCAAA	0.448																																					p.R610Q		.											.	SUPV3L1-227	0			c.G1829A						.						155	134	141					10																	70967601		2203	4300	6503	SO:0001583	missense	6832	exon14			TACGCCGATACAT	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1829G>A	10.37:g.70967601G>A	ENSP00000352678:p.Arg610Gln	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	201	4	NM_003171	0	0	43	43	0	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163193	0.78226	.	.	ENSG00000156502	ENST00000359655	T	0.40476	1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.31294	0.92	0.80722	D	1	P	0.39520	0.676	B	0.31245	0.126	T	0.07347	-1.0777	10	0.15499	T	0.54	-9.0716	19.1669	0.93561	0.0:0.0:1.0:0.0	.	610	Q8IYB8	SUV3_HUMAN	Q	610	ENSP00000352678:R610Q	ENSP00000352678:R610Q	R	+	2	0	SUPV3L1	70637607	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.377000	0.73145	2.615000	0.88500	0.650000	0.86243	CGA	.		0.448	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		A	70967601	G	A	70967601	3	1	5	1	0	0	0	0	1	0	0	0	15449	1058	37	1	1883	1	SUPV3L1	10	70967601	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9954871	70967601	64567146	298	759											
H2AFY2	55506	broad.mit.edu	37	chr10	71871407	71871407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagagcatcggcatctacGtgcaggagatggccaagctc	14	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:71871407G>A	ENST00000373255.4	+	9	1351	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	363	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CGGCATCTACGTGCAGGAGAT	0.567																																					p.V363M		.											.	H2AFY2-91	0			c.G1087A						.						55	44	48					10																	71871407		2203	4300	6503	SO:0001583	missense	55506	exon9			ATCTACGTGCAGG	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.1087G>A	10.37:g.71871407G>A	ENSP00000362352:p.Val363Met	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	124	5	NM_018649	0	0	42	42	0	Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891875	0.72524	.	.	ENSG00000099284	ENST00000373255	T	0.23754	1.89	6.07	6.07	0.98685	Appr-1-p processing (1);	0.118491	0.56097	D	0.000025	T	0.40743	0.1129	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	P	0.48552	0.581	T	0.23511	-1.0186	10	0.72032	D	0.01	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	363	Q9P0M6	H2AW_HUMAN	M	363	ENSP00000362352:V363M	ENSP00000362352:V363M	V	+	1	0	H2AFY2	71541413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.144000	0.64832	2.884000	0.98904	0.655000	0.94253	GTG	.		0.567	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		A	71871407	G	A	71871407	3	1	5	1	0	0	0	0	1	0	0	0	6957	1145	40	1	1117	1	H2AFY2	10	71871407	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	903806	71871407	63663340	299	760											
SPOCK2	9806	hgsc.bcm.edu	37	chr10	73848075	73848075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagccgcccgcagccCggggcgcgcatcgtggtctg	15	17	1	0	rs2306324	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:73848075C>T	ENST00000373109.2	-	1	456	c.12G>A	c.(10-12)ccG>ccA	p.P4P	SPOCK2_ENST00000536168.1_Silent_p.P4P|SPOCK2_ENST00000317376.4_Silent_p.P4P|SPOCK2_ENST00000412663.1_Silent_p.P4P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	4					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCCGCAGCCCGGGGCGCGCA	0.697													C|||	722	0.144169	0.2201	0.1585	5008	,	,		11692	0.1438		0.0437	False		,,,				2504	0.135				p.P4P		.											.	SPOCK2-90	0			c.G12A						.	C	,	759,3439		58,643,1398	6	8	7		12,12	0.9	0.9	10	dbSNP_100	7	414,7646		9,396,3625	yes	coding-synonymous,coding-synonymous	SPOCK2	NM_001134434.1,NM_014767.2	,	67,1039,5023	TT,TC,CC		5.1365,18.08,9.5693	,	4/78,4/425	73848075	1173,11085	2099	4030	6129	SO:0001819	synonymous_variant	9806	exon2			GCAGCCCGGGGCG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.12G>A	10.37:g.73848075C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001134434	0	0	0	0	0	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			C|0.870;T|0.130		0.697	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			T	73848075	C	T	73848075	2	4	5	1	0	0	0	0	0	0	0	1	15127	639	23	1		1	SPOCK2	10	73848075	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1976668	73848075	61686672	300	761											
USP54	159195	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75290071	75290071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactctctatttcccagtcaCgagagtgtaaaggcagggtc	10	10	2	1	rs150999517		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:75290071C>T	ENST00000339859.4	-	13	1758	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H	USP54_ENST00000428547.1_Missense_Mutation_p.R403H|USP54_ENST00000408019.1_Missense_Mutation_p.R553H|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000319786.7_Missense_Mutation_p.R553H|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	553					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TTCCCAGTCACGAGAGTGTAA	0.507													C|||	1	0.000199681	0	0	5008	,	,		18720	0		0.001	False		,,,				2504	0				p.R553H	Colon(195;880 2046 8854 25025 38456)	.											.	USP54-721	0			c.G1658A						.						134	128	130					10																	75290071		1894	4120	6014	SO:0001583	missense	159195	exon12			CAGTCACGAGAGT	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1658G>A	10.37:g.75290071C>T	ENSP00000345216:p.Arg553His	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	160	56	NM_152586	0	0	0	0	0	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.96	1.795152	0.31777	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.25085	1.82;1.82;1.82	5.66	-8.44	0.00950	.	0.506389	0.18375	N	0.143144	T	0.19046	0.0457	L	0.53249	1.67	0.09310	N	1	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.04013	0.0;0.001;0.001	T	0.06197	-1.0840	10	0.59425	D	0.04	1.4217	12.2848	0.54786	0.0:0.3478:0.0799:0.5722	.	553;553;553	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	H	553;553;403;553	ENSP00000345216:R553H;ENSP00000386080:R553H;ENSP00000408714:R403H	ENSP00000326547:R553H	R	-	2	0	USP54	74960077	0.000000	0.05858	0.002000	0.10522	0.877000	0.50540	-1.080000	0.03407	-1.805000	0.01239	-0.736000	0.03550	CGT	C|0.999;T|0.000		0.507	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		T	75290071	C	T	75290071	3	4	5	1	0	0	0	0	1	0	0	0	17134	536	19	1	3440	1	USP54	10	75290071	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1441996	75290071	60244676	301	762											
KIAA0913	23053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75552240	75552240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagagccctccaccctgtcCtctccacggtggctcccgag	10	18	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:75552240C>A	ENST00000605216.1	+	10	2160	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P648H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P648H|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	648							zinc ion binding (GO:0008270)										CCACCCTGTCCTCTCCACGGT	0.627																																					p.P648H		.											.	.	0			c.C1943A						.						30	37	35					10																	75552240		1968	4137	6105	SO:0001583	missense	23053	exon10			CCTGTCCTCTCCA	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1943C>A	10.37:g.75552240C>A	ENSP00000474748:p.Pro648His	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	131	47	NM_001242488	0	0	12	17	5	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.34|11.34	1.610039|1.610039	0.28712|0.28712	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706	.|T	.|0.42513	.|0.97	5.4|5.4	3.36|3.36	0.38483|0.38483	.|.	.|0.084546	.|0.47455	.|U	.|0.000225	T|T	0.33644|0.33644	0.0870|0.0870	L|L	0.36672|0.36672	1.1|1.1	0.38514|0.38514	D|D	0.948544|0.948544	.|B;D;B;B	.|0.53885	.|0.0;0.963;0.0;0.0	.|B;P;B;B	.|0.49140	.|0.003;0.601;0.003;0.003	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.22706	.|T	.|0.39	0.0322|0.0322	4.9889|4.9889	0.14203|0.14203	0.2339:0.6582:0.0:0.1079|0.2339:0.6582:0.0:0.1079	.|.	.|648;648;648;648	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	I|H	145|648	.|ENSP00000381693:P648H	.|ENSP00000381693:P648H	L|P	+|+	1|2	0|0	KIAA0913|KIAA0913	75222246|75222246	0.973000|0.973000	0.33851|0.33851	0.928000|0.928000	0.36995|0.36995	0.344000|0.344000	0.29017|0.29017	1.286000|1.286000	0.33273|0.33273	1.446000|1.446000	0.47643|0.47643	0.655000|0.655000	0.94253|0.94253	CTC|CCT	.		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		A	75552240	C	A	75552240	3	1	5	1	0	0	0	0	1	0	0	0	8227	681	24	3	1981	3	KIAA0913	10	75552240	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	262169	75552240	59982507	302	763											
GHITM	27069	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	85909926	85909926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgtggccatgtgtgcGcccagtgaaaagtttctgaa	11	10	1	2	rs201995209		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:85909926G>A	ENST00000372134.3	+	7	901	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	236					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATGTGTGCGCCCAGTGAAA	0.532																																					p.A236A		.											.	GHITM-90	0			c.G708A						.						106	115	112					10																	85909926		2031	4188	6219	SO:0001819	synonymous_variant	27069	exon7			GTGTGCGCCCAGT	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.708G>A	10.37:g.85909926G>A		Somatic	136	1		WXS	Illumina GAIIx	Phase_I	169	37	NM_014394	0	0	46	58	12	A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	CCDS41542.1																																																																																			G|0.999;A|0.001		0.532	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		A	85909926	G	A	85909926	2	1	5	1	0	0	0	0	0	0	0	1	6396	1074	38	1		1	GHITM	10	85909926	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10357686	85909926	49624821	303	764											
PAPSS2	9060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	89469057	89469057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggttccgaggatgtacCgtgtggctaacaggtatgtc	16	7	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:89469057C>T	ENST00000361175.4	+	2	501	c.132C>T	c.(130-132)acC>acT	p.T44T	PAPSS2_ENST00000456849.1_Silent_p.T44T|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Silent_p.T48T	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	44					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GAGGATGTACCGTGTGGCTAA	0.408																																					p.T44T		.											.	PAPSS2-493	0			c.C132T						.						89	78	82					10																	89469057		2203	4300	6503	SO:0001819	synonymous_variant	9060	exon2			ATGTACCGTGTGG	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.132C>T	10.37:g.89469057C>T		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	33	12	NM_001015880	0	0	1	1	0	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	CCDS7385.1																																																																																			.		0.408	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			T	89469057	C	T	89469057	2	4	5	1	0	0	0	0	0	0	0	1	11474	639	23	1		1	PAPSS2	10	89469057	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3559131	89469057	46065690	304	765											
LCOR	84458	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	98708916	98708916	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagaaccaaagcctgccGaaagcatctccagtcaccac	6	15	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:98708916G>A	ENST00000371097.4	+	6	648	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LCOR_ENST00000356016.3_Silent_p.P34P|LCOR_ENST00000371103.3_Silent_p.P34P|LCOR_ENST00000540664.1_Silent_p.P34P|LCOR_ENST00000498444.1_3'UTR			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	34					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)		AAAGCCTGCCGAAAGCATCTC	0.502																																					p.P34P		.											.	LCOR-189	0			c.G102A						.						132	120	124					10																	98708916		2203	4300	6503	SO:0001819	synonymous_variant	84458	exon6			CCTGCCGAAAGCA		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.102G>A	10.37:g.98708916G>A		Somatic	81	1		WXS	Illumina GAIIx	Phase_I	82	52	NM_001170766	0	0	0	0	0	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	CCDS7451.1																																																																																			.		0.502	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			A	98708916	G	A	98708916	2	1	5	1	0	0	0	0	0	0	0	1	8717	1045	37	1		1	LCOR	10	98708916	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9239859	98708916	36825831	305	766											
RRP12	23223	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	99129265	99129265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagtgcagacttgaccaCgtcacgggtgcgggaggcca	15	13	1	2	rs370226569		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:99129265C>T	ENST00000370992.4	-	25	2983	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.V858M|RRP12_ENST00000536831.1_Missense_Mutation_p.V676M|RRP12_ENST00000414986.1_Missense_Mutation_p.V897M	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	958						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GACTTGACCACGTCACGGGTG	0.607																																					p.V958M		.											.	RRP12-92	0			c.G2872A						.	C	MET/VAL,MET/VAL	0,4406		0,0,2203	109	69	83		2689,2872	5.2	1	10		83	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	21,21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	897/1237,958/1298	99129265	1,13003	2203	4299	6502	SO:0001583	missense	23223	exon25			TGACCACGTCACG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2872G>A	10.37:g.99129265C>T	ENSP00000360031:p.Val958Met	Somatic	155	1		WXS	Illumina GAIIx	Phase_I	192	74	NM_015179	0	0	5	6	1	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811012	0.70797	0.0	1.16E-4	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.119371	0.56097	D	0.000021	T	0.81688	0.4875	M	0.71581	2.175	0.51012	D	0.999904	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.976;0.99;0.994;0.967	D	0.83637	0.0148	10	0.72032	D	0.01	-26.5444	18.7433	0.91782	0.0:1.0:0.0:0.0	.	897;858;676;958	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	958;858;897;676	ENSP00000360031:V958M;ENSP00000324315:V858M;ENSP00000414863:V897M;ENSP00000446184:V676M	ENSP00000324315:V858M	V	-	1	0	RRP12	99119255	0.993000	0.37304	0.957000	0.39632	0.869000	0.49853	3.014000	0.49590	2.426000	0.82243	0.561000	0.74099	GTG	.		0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99129265	C	T	99129265	3	4	5	1	0	0	0	0	1	0	0	0	13731	536	19	1	1061	1	RRP12	10	99129265	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	420349	99129265	36405482	306	767											
RRP12	23223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	99145706	99145706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaggccaggcctggcGtggaagaggctgtgaaaggc	18	9	1	2	rs377580724		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:99145706G>A	ENST00000370992.4	-	9	1173	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	RRP12_ENST00000315563.6_Silent_p.H254H|RRP12_ENST00000536831.1_Silent_p.H72H|RRP12_ENST00000414986.1_Silent_p.H293H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	354						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGCCTGGCGTGGAAGAGGC	0.627																																					p.H354H		.											.	RRP12-92	0			c.C1062T						.	G	,	0,4406		0,0,2203	61	38	46		879,1062	-5.3	1	10		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	293/1237,354/1298	99145706	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23223	exon9			CCTGGCGTGGAAG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1062C>T	10.37:g.99145706G>A		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	257	157	NM_015179	0	0	0	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			.		0.627	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99145706	G	A	99145706	2	1	5	1	0	0	0	0	0	0	0	1	13731	1136	40	1		1	RRP12	10	99145706	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	16441	99145706	36389041	307	768											
PDZD7	79955	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	102789754	102789754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggtcccgcccctaccttCgatgggggagttgatgagga	15	11	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:102789754C>T	ENST00000370215.3	-	2	448	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Missense_Mutation_p.E75K|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	75						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCTACCTTCGATGGGGGAG	0.637																																					p.E75K		.											.	PDZD7-136	0			c.G223A						.						29	36	34					10																	102789754		2203	4300	6503	SO:0001583	missense	79955	exon2			TACCTTCGATGGG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.223G>A	10.37:g.102789754C>T	ENSP00000359234:p.Glu75Lys	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	30	6	NM_001195263	0	0	0	0	0	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109323	0.94292	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11821	2.74	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.105526	0.64402	D	0.000005	T	0.21962	0.0529	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.76494	0.997;0.999	P;P	0.58928	0.693;0.848	T	0.02471	-1.1154	10	0.25106	T	0.35	.	18.9098	0.92479	0.0:1.0:0.0:0.0	.	75;75	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	K	75	ENSP00000359234:E75K	ENSP00000359234:E75K	E	-	1	0	PDZD7	102779744	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.160000	0.77495	2.459000	0.83118	0.448000	0.29417	GAA	.		0.637	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		T	102789754	C	T	102789754	3	4	5	1	0	0	0	0	1	0	0	0	11743	893	31	1	1366	1	PDZD7	10	102789754	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3644048	102789754	32744993	308	769											
SUFU	51684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	104359294	104359294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatggcctcgcccacgacCgggccccgtaagttccccag	11	17	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:104359294C>T	ENST00000369902.3	+	8	1181	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SUFU_ENST00000423559.2_Missense_Mutation_p.R339W|SUFU_ENST00000369899.2_Missense_Mutation_p.R339W|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	339					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CGCCCACGACCGGGCCCCGTA	0.572			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																												p.R339W		.	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	.	SUFU-2246	0			c.C1015T						.						64	62	63					10																	104359294		2203	4300	6503	SO:0001583	missense	51684	exon8	Familial Cancer Database		CACGACCGGGCCC	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1015C>T	10.37:g.104359294C>T	ENSP00000358918:p.Arg339Trp	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	114	35	NM_001178133	0	0	0	0	0	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476536	0.84640	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.66280	-0.18;-0.2;-0.2	6.07	5.16	0.70880	Suppressor of fused C-terminal (1);	0.052063	0.85682	D	0.000000	T	0.74650	0.3744	L	0.51422	1.61	0.51767	D	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.992;0.997	T	0.77267	-0.2651	10	0.72032	D	0.01	-23.3813	15.3004	0.73945	0.2539:0.7461:0.0:0.0	.	339;339;339	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	W	339	ENSP00000358918:R339W;ENSP00000358915:R339W;ENSP00000411597:R339W	ENSP00000358915:R339W	R	+	1	2	SUFU	104349284	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.883000	0.48554	1.551000	0.49450	0.655000	0.94253	CGG	.		0.572	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		T	104359294	C	T	104359294	3	4	5	1	0	0	0	0	1	0	0	0	15415	643	23	1	1045	1	SUFU	10	104359294	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1569540	104359294	31175453	309	770											
PDCD11	22984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	105182858	105182858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtgggggtccagtgcccGacctggtcctgaaagccagc	14	13	1	1	rs370752421		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105182858G>A	ENST00000369797.3	+	18	2705	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	871					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCCAGTGCCCGACCTGGTCCT	0.577																																					p.D871N		.											.	PDCD11-275	0			c.G2611A						.	G	ASN/ASP	0,4406		0,0,2203	135	117	123		2611	5.1	0.5	10		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDCD11	NM_014976.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	871/1872	105182858	1,13005	2203	4300	6503	SO:0001583	missense	22984	exon18			GTGCCCGACCTGG	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2611G>A	10.37:g.105182858G>A	ENSP00000358812:p.Asp871Asn	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	294	188	NM_014976	0	0	0	2	2	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865121	0.17250	0.0	1.16E-4	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11169	2.8	5.95	5.05	0.67936	RNA-binding domain, S1 (1);	0.181993	0.64402	D	0.000015	T	0.08179	0.0204	N	0.22421	0.69	0.25480	N	0.987746	B	0.09022	0.002	B	0.06405	0.002	T	0.26710	-1.0095	10	0.25751	T	0.34	-5.7242	12.7883	0.57518	0.0753:0.0:0.9247:0.0	.	871	Q14690	RRP5_HUMAN	N	871	ENSP00000358812:D871N	ENSP00000358812:D871N	D	+	1	0	PDCD11	105172848	0.986000	0.35501	0.536000	0.28039	0.010000	0.07245	3.046000	0.49846	1.532000	0.49169	-0.424000	0.05967	GAC	.		0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			A	105182858	G	A	105182858	3	1	5	1	0	0	0	0	1	0	0	0	11656	1058	37	1	2677	1	PDCD11	10	105182858	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	823564	105182858	30351889	310	771											
PDCD11	22984	broad.mit.edu;bcgsc.ca	37	chr10	105185215	105185215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcacctctcctactAccaagctgaaggttgggaag	12	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105185215A>G	ENST00000369797.3	+	20	3332	c.3238A>G	c.(3238-3240)Acc>Gcc	p.T1080A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1080	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCTCCTACTACCAAGCTGAA	0.537																																					p.T1080A		.											.	PDCD11-275	0			c.A3238G						.						98	88	91					10																	105185215		2203	4300	6503	SO:0001583	missense	22984	exon20			CCTACTACCAAGC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3238A>G	10.37:g.105185215A>G	ENSP00000358812:p.Thr1080Ala	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	205	16	NM_014976	0	0	1	1	0	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	1.347	-0.592551	0.03799	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.43294	0.95	5.91	-2.42	0.06542	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.608708	0.18161	N	0.149781	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30851	-0.9964	10	0.02654	T	1	-0.1083	6.0941	0.20010	0.1776:0.0:0.3606:0.4618	.	1080	Q14690	RRP5_HUMAN	A	1080	ENSP00000358812:T1080A	ENSP00000358812:T1080A	T	+	1	0	PDCD11	105175205	0.000000	0.05858	0.002000	0.10522	0.509000	0.34042	0.279000	0.18771	-0.556000	0.06134	0.379000	0.24179	ACC	.		0.537	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			G	105185215	A	G	105185215	3	3	5	1	0	0	0	0	1	0	0	0	11656	391	14	4	3312	4	PDCD11	10	105185215	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	2357	105185215	30349532	311	772											
CALHM1	255022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	105215444	105215444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcgtgaagcagggccGcacagagcgcaccacgaatg	15	13	0	2	rs375270464		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:105215444G>A	ENST00000329905.5	-	2	752	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	206					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AAGCAGGGCCGCACAGAGCGC	0.617																																					p.R206W		.											.	CALHM1-91	0			c.C616T						.	G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	39	35	36		616	3.4	1	10		36	0,8600		0,0,4300	no	missense	CALHM1	NM_001001412.3	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	206/347	105215444	1,13003	2202	4300	6502	SO:0001583	missense	255022	exon2			AGGGCCGCACAGA	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.616C>T	10.37:g.105215444G>A	ENSP00000329926:p.Arg206Trp	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	161	19	NM_001001412	0	0	0	0	0	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349670	0.82132	2.27E-4	0.0	ENSG00000185933	ENST00000329905	T	0.19938	2.11	5.3	3.39	0.38822	.	0.127206	0.53938	D	0.000045	T	0.45155	0.1328	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45131	-0.9282	10	0.87932	D	0	-39.2232	14.2086	0.65750	0.0:0.0:0.7268:0.2732	.	206	Q8IU99	CAHM1_HUMAN	W	206	ENSP00000329926:R206W	ENSP00000329926:R206W	R	-	1	2	CALHM1	105205434	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	4.373000	0.59537	0.580000	0.29522	0.313000	0.20887	CGG	.		0.617	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		A	105215444	G	A	105215444	3	1	5	1	0	0	0	0	1	0	0	0	2589	1086	38	1	428	1	CALHM1	10	105215444	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	30229	105215444	30319303	312	773											
INPP5F	79892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	121586489	121586489	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgatgaattccttacaAattctaagtctgatgaagac	6	8	3	5			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:121586489A>G	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.N256D|INPP5F_ENST00000361976.2_Missense_Mutation_p.N866D	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						ATTCCTTACAAATTCTAAGTC	0.428																																					p.N866D		.											.	INPP5F-229	0			c.A2596G						.						125	112	116					10																	121586489		2203	4300	6503	SO:0001628	intergenic_variant	22876	exon20			CTTACAAATTCTA	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.121586489A>G		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	183	110	NM_014937	0	0	0	0	0	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944564	0.53079	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.43688	1.17;0.94	5.92	5.92	0.95590	.	0.187324	0.46145	D	0.000302	T	0.31638	0.0803	L	0.27053	0.805	0.80722	D	1	D;P	0.53151	0.958;0.651	B;B	0.42692	0.395;0.212	T	0.07673	-1.0760	10	0.10636	T	0.68	-31.8935	16.3631	0.83280	1.0:0.0:0.0:0.0	.	256;866	Q5W135;Q9Y2H2	.;SAC2_HUMAN	D	866;256	ENSP00000354519:N866D;ENSP00000358076:N256D	ENSP00000354519:N866D	N	+	1	0	INPP5F	121576479	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	4.020000	0.57189	2.266000	0.75297	0.533000	0.62120	AAT	.		0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		G	121586489	A	G	121586489	1	3	5	0	1	0	0	0	0	0	0	0	7785	14	1	4		4	INPP5F	10	121586489	IGR	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	16371045	121586489	13948258	313	774											
ADAM12	8038	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127755329	127755329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgcgcacacagcgtccGgcttcagggtacaggtggtg	15	11	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:127755329G>A	ENST00000368679.4	-	13	1688	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.P460L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	460	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACAGCGTCCGGCTTCAGGGT	0.547																																					p.P460L		.											.	ADAM12-716	0			c.C1379T						.						96	84	88					10																	127755329		2203	4300	6503	SO:0001583	missense	8038	exon13			GCGTCCGGCTTCA	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.1379C>T	10.37:g.127755329G>A	ENSP00000357668:p.Pro460Leu	Somatic	339	2		WXS	Illumina GAIIx	Phase_I	374	122	NM_021641	0	0	0	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310407	0.60414	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.11385	2.78;2.78	4.56	4.56	0.56223	Blood coagulation inhibitor, Disintegrin (5);	0.143197	0.48767	D	0.000171	T	0.17916	0.0430	M	0.61703	1.905	0.80722	D	1	P;P;P;P;P	0.51653	0.947;0.934;0.934;0.934;0.905	P;B;B;B;B	0.44561	0.453;0.324;0.324;0.324;0.439	T	0.02610	-1.1134	10	0.72032	D	0.01	.	17.8961	0.88888	0.0:0.0:1.0:0.0	.	457;457;460;457;460	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	L	460	ENSP00000357668:P460L;ENSP00000357665:P460L	ENSP00000357665:P460L	P	-	2	0	ADAM12	127745319	0.940000	0.31905	0.849000	0.33467	0.428000	0.31595	2.544000	0.45761	2.507000	0.84556	0.655000	0.94253	CCG	.		0.547	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			A	127755329	G	A	127755329	3	1	5	1	0	0	0	0	1	0	0	0	236	1116	39	1	1502	1	ADAM12	10	127755329	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6168840	127755329	7779418	314	775											
PWWP2B	170394	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	134219725	134219725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgaggctgcaaatgccgCaagacacgtggccccggaaa	12	13	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr10:134219725C>T	ENST00000305233.5	+	2	1780	c.1721C>T	c.(1720-1722)gCa>gTa	p.A574V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	574										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCAAATGCCGCAAGACACGTG	0.498																																					p.A574V		.											.	PWWP2B-90	0			c.C1721T						.						68	74	72					10																	134219725		2203	4300	6503	SO:0001583	missense	170394	exon2			ATGCCGCAAGACA	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1721C>T	10.37:g.134219725C>T	ENSP00000306324:p.Ala574Val	Somatic	121	2		WXS	Illumina GAIIx	Phase_I	159	103	NM_138499	0	0	16	60	44	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008023	0.19199	.	.	ENSG00000171813	ENST00000305233	T	0.59638	0.25	4.28	4.28	0.50868	.	0.094359	0.43110	U	0.000612	T	0.35068	0.0919	N	0.10874	0.06	0.80722	D	1	B	0.19706	0.038	B	0.16722	0.016	T	0.17258	-1.0375	10	0.30854	T	0.27	.	9.7641	0.40550	0.0:0.8937:0.0:0.1063	.	574	Q6NUJ5	PWP2B_HUMAN	V	574	ENSP00000306324:A574V	ENSP00000306324:A574V	A	+	2	0	PWWP2B	134069715	0.894000	0.30519	0.602000	0.28890	0.368000	0.29767	1.394000	0.34509	2.396000	0.81511	0.563000	0.77884	GCA	.		0.498	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219725	C	T	134219725	3	4	5	1	0	0	0	0	1	0	0	0	12891	710	25	3	1727	3	PWWP2B	10	134219725	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	6464396	134219725	1315022	315	776											
RASSF7	8045	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	562158	562158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagagtgtccagtgggCgcccaggccacctgcggaca	13	15	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:562158C>T	ENST00000397583.3	+	3	637	c.204C>T	c.(202-204)ggC>ggT	p.G68G	RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000454668.2_Silent_p.G68G|RASSF7_ENST00000397582.3_Silent_p.G68G|RP11-496I9.1_ENST00000527620.1_RNA|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000344375.4_Silent_p.G68G|RASSF7_ENST00000431809.1_Silent_p.G68G|RP11-496I9.1_ENST00000527113.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	68	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGTGGGCGCCCAGGCCA	0.637																																					p.G68G	Pancreas(184;1170 3913 7268)	.											.	RASSF7-91	0			c.C204T						.						24	24	24					11																	562158		2201	4298	6499	SO:0001819	synonymous_variant	8045	exon3			AGTGGGCGCCCAG	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.204C>T	11.37:g.562158C>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	173	11	NM_001143994	0	0	16	16	0	G5E9N9|Q3KP41|Q3KP42	Silent	SNP	ENST00000397583.3	37	CCDS7702.1																																																																																			.		0.637	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		T	562158	C	T	562158	2	4	5	1	0	0	0	0	0	0	0	1	13136	755	27	1		1	RASSF7	11	562158	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		562158	134444358	316	777											
PHRF1	57661	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr11	598468	598468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatcagcgccccctgacGccgcgcactcccgcccgacg	11	20	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:598468G>A	ENST00000264555.5	+	9	1118	c.990G>A	c.(988-990)acG>acA	p.T330T	PHRF1_ENST00000413872.2_Silent_p.T329T|PHRF1_ENST00000533464.1_Silent_p.T326T|PHRF1_ENST00000416188.2_Silent_p.T330T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	330	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCCTGACGCCGCGCACTC	0.662																																					p.T330T		.											.	PHRF1-22	0			c.G990A						.						23	30	28					11																	598468		2087	4204	6291	SO:0001819	synonymous_variant	57661	exon9			CCTGACGCCGCGC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.990G>A	11.37:g.598468G>A		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	56	47	NM_020901	0	0	0	11	11	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																				.		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	598468	G	A	598468	2	1	5	1	0	0	0	0	0	0	0	1	11900	1074	38	1		1	PHRF1	11	598468	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	36310	598468	134408048	317	778											
MUC2	4583	bcgsc.ca	37	chr11	1093410	1093410	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accggcacacagaccccaacCacgacacccatcaccaccac	4	22	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1093410C>A	ENST00000441003.2	+	30	5256	c.5229C>A	c.(5227-5229)acC>acA	p.T1743T	MUC2_ENST00000333592.6_Silent_p.T31T|MUC2_ENST00000359061.5_Silent_p.T1710T|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)		p.T1743T(1)|p.T1710T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agaccccaaccacgacaccca	0.642																																					p.T1743T		.											.	MUC2-90	2	Substitution - coding silent(2)	prostate(2)	c.C5229A						.						209	243	231					11																	1093410		2021	3936	5957	SO:0001819	synonymous_variant	4583	exon30			CCCAACCACGACA	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.5229C>A	11.37:g.1093410C>A		Somatic	126	3		WXS	Illumina GAIIx	Phase_I	118	9	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093410	C	A	1093410	2	1	5	1	0	0	0	0	0	0	0	1	10013	581	21	3		3	MUC2	11	1093410	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	494942	1093410	133913106	318	779											
MUC5B	727897	mdanderson.org	37	chr11	1266656	1266656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacacccagcaagacccGcacctcgaccctgctgccca	8	21	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1266656G>A	ENST00000529681.1	+	31	8604	c.8546G>A	c.(8545-8547)cGc>cAc	p.R2849H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2852H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2849	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCAAGACCCGCACCTCGACC	0.687																																					p.R2849H		.											.	.	0			c.G8546A						.						39	57	51					11																	1266656		1942	4058	6000	SO:0001583	missense	727897	exon31			AGACCCGCACCTC	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.8546G>A	11.37:g.1266656G>A	ENSP00000436812:p.Arg2849His	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	114	53	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	9.309	1.054964	0.19907	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18810	2.19;2.38	3.48	-6.97	0.01616	.	.	.	.	.	T	0.10809	0.0264	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.38329	-0.9666	9	0.87932	D	0	.	6.9435	0.24506	0.5036:0.1548:0.3416:0.0	.	3432;2852	A7Y9J9;E9PBJ0	.;.	H	2849;2852;2821;2809	ENSP00000436812:R2849H;ENSP00000415793:R2852H	ENSP00000343037:R2821H	R	+	2	0	MUC5B	1223232	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.449000	0.06812	-1.327000	0.02264	-0.319000	0.08680	CGC	.		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1266656	G	A	1266656	3	1	5	1	0	0	0	0	1	0	0	0	10017	1087	38	1	8677	1	MUC5B	11	1266656	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	173246	1266656	133739860	319	780			1	2		5	5	9812	N	T_G_C_A	6.985643e-05
MUC5B	727897	bcgsc.ca	37	chr11	1267793	1267793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagcactgagaagcaCagccaccacacccacagcta	6	18	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1267793C>T	ENST00000529681.1	+	31	9741	c.9683C>T	c.(9682-9684)aCa>aTa	p.T3228I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3231I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3228	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGAGAAGCACAGCCACCACA	0.647																																					p.T3228I		.											.	.	0			c.C9683T						.						126	178	161					11																	1267793		2166	4257	6423	SO:0001583	missense	727897	exon31			GAAGCACAGCCAC	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.9683C>T	11.37:g.1267793C>T	ENSP00000436812:p.Thr3228Ile	Somatic	285	4		WXS	Illumina GAIIx	Phase_I	292	89	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.045	0.193989	0.09599	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19669	2.13;2.31	1.99	-3.98	0.04082	.	.	.	.	.	T	0.15435	0.0372	L	0.61218	1.895	0.09310	N	1	B;B	0.29301	0.241;0.241	B;B	0.14578	0.011;0.011	T	0.20907	-1.0261	9	0.87932	D	0	.	2.5019	0.04636	0.1615:0.4503:0.2632:0.125	.	3811;3231	A7Y9J9;E9PBJ0	.;.	I	3228;3231;3200;3188	ENSP00000436812:T3228I;ENSP00000415793:T3231I	ENSP00000343037:T3200I	T	+	2	0	MUC5B	1224369	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.810000	0.04505	-1.119000	0.02958	0.195000	0.17529	ACA	.		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1267793	C	T	1267793	3	4	5	1	0	0	0	0	1	0	0	0	10017	478	17	3	9814	3	MUC5B	11	1267793	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1137	1267793	133738723	320	781			1	2		5	5	9812	N	T_G_C_A	6.985643e-05
MUC5B	727897	broad.mit.edu	37	chr11	1269600	1269600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctccactccagagacTgcccacacctccacagtgct	5	21	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1269600T>C	ENST00000529681.1	+	31	11548	c.11490T>C	c.(11488-11490)acT>acC	p.T3830T	MUC5B_ENST00000447027.1_Silent_p.T3833T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3830	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)		CTCCAGAGACTGCCCACACCT	0.652																																					p.T3830T		.											.	.	0			c.T11490C						.						125	154	144					11																	1269600		2113	4196	6309	SO:0001819	synonymous_variant	727897	exon31			AGAGACTGCCCAC	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.11490T>C	11.37:g.1269600T>C		Somatic	325	0		WXS	Illumina GAIIx	Phase_I	238	14	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1269600	T	C	1269600	2	2	5	1	0	0	0	0	0	0	0	1	10017	1567	55	4		4	MUC5B	11	1269600	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1807	1269600	133736916	321	782			1	2		5	5	9812	N	T_G_C_A	6.985643e-05
MUC5B	727897	bcgsc.ca	37	chr11	1270826	1270826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccagctctacggccaTgccctcctccactccgggga	10	19	1	0	rs4046507	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1270826T>C	ENST00000529681.1	+	31	12774	c.12716T>C	c.(12715-12717)aTg>aCg	p.M4239T	MUC5B_ENST00000447027.1_Missense_Mutation_p.M4242T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4239	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCTACGGCCATGCCCTCCTCC	0.612																																					p.M4239T		.											.	.	0			c.T12716C						.						55	62	60					11																	1270826		1897	4071	5968	SO:0001583	missense	727897	exon31			CGGCCATGCCCTC	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.12716T>C	11.37:g.1270826T>C	ENSP00000436812:p.Met4239Thr	Somatic	377	78		WXS	Illumina GAIIx	Phase_I	373	314	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.170|2.170	-0.390171|-0.390171	0.04932|0.04932	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.15603	.|2.41;2.6	1.98|1.98	-0.546|-0.546	0.11840|0.11840	.|.	.|.	.|.	.|.	.|.	T|T	0.07007|0.07007	0.0178|0.0178	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.33137|0.33137	-0.9880|-0.9880	6|9	0.17369|0.87932	T|D	0.5|0	.|.	7.5765|7.5765	0.27939|0.27939	0.0:0.6436:0.0:0.3564|0.0:0.6436:0.0:0.3564	.|.	.|4712;4242	.|A7Y9J9;E9PBJ0	.|.;.	R|T	19|4239;4242;4183;4089	.|ENSP00000436812:M4239T;ENSP00000415793:M4242T	ENSP00000439776:C19R|ENSP00000343037:M4183T	C|M	+|+	1|2	0|0	MUC5B|MUC5B	1227402|1227402	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.254000|-0.254000	0.08781|0.08781	-0.898000|-0.898000	0.03906|0.03906	-0.534000|-0.534000	0.04291|0.04291	TGC|ATG	T|0.976;C|0.024		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1270826	T	C	1270826	3	2	5	1	0	0	0	0	1	0	0	0	10017	1464	51	4	12847	4	MUC5B	11	1270826	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1226	1270826	133735690	322	783			1	2		5	5	9812	N	T_G_C_A	6.985643e-05
MUC5B	727897	hgsc.bcm.edu	37	chr11	1276467	1276467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccccaccccatgcccaccAcagccgctctgtgatctgat	6	20	2	2	rs56344012	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:1276467A>G	ENST00000529681.1	+	36	15919	c.15861A>G	c.(15859-15861)ccA>ccG	p.P5287P	MUC5B_ENST00000447027.1_Silent_p.P5290P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5287	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATGCCCACCACAGCCGCTCT	0.716													G|||	76	0.0151757	0.0166	0.0086	5008	,	,		8165	0.002		0.0378	False		,,,				2504	0.0082				p.P5287P		.											.	.	0			c.A15861G						.						12	14	13					11																	1276467		1798	3846	5644	SO:0001819	synonymous_variant	727897	exon36			CCCACCACAGCCG	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.15861A>G	11.37:g.1276467A>G		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	24	18	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.981;G|0.019		0.716	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1276467	A	G	1276467	2	3	5	1	0	0	0	0	0	0	0	1	10017	146	6	4		4	MUC5B	11	1276467	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	5641	1276467	133730049	323	784			1	2		5	5	9812	N	T_G_C_A	6.985643e-05
OR51F2	119694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	4843086	4843086	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaatgcccgaattgccaaGattgggatgagcatgttgat	11	8	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:4843086G>T	ENST00000322110.5	+	1	536	c.471G>T	c.(469-471)aaG>aaT	p.K157N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATTGCCAAGATTGGGATGA	0.468																																					p.K157N		.											.	OR51F2-70	0			c.G471T						.						296	251	266					11																	4843086		2201	4298	6499	SO:0001583	missense	119694	exon1			TGCCAAGATTGGG	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.471G>T	11.37:g.4843086G>T	ENSP00000323952:p.Lys157Asn	Somatic	198	1		WXS	Illumina GAIIx	Phase_I	148	77	NM_001004753	0	0	0	0	0	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911685	0.17833	.	.	ENSG00000176925	ENST00000322110	T	0.13538	2.58	4.64	0.14	0.14804	GPCR, rhodopsin-like superfamily (1);	0.796110	0.10314	U	0.689652	T	0.14098	0.0341	L	0.55743	1.74	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.21075	-1.0256	10	0.59425	D	0.04	.	3.6646	0.08252	0.0862:0.141:0.4841:0.2886	.	157	Q8NH61	O51F2_HUMAN	N	157	ENSP00000323952:K157N	ENSP00000323952:K157N	K	+	3	2	OR51F2	4799662	0.067000	0.21026	0.721000	0.30653	0.124000	0.20399	0.295000	0.19065	0.245000	0.21373	0.561000	0.74099	AAG	.		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		T	4843086	G	T	4843086	3	4	5	1	0	0	0	0	1	0	0	0	11136	933	33	3	473	3	OR51F2	11	4843086	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3566619	4843086	130163430	324	785											
MICAL2	9645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	12234878	12234878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacagaaacagcacagcGgaagccaaggtggaagagat	12	7	0	2	rs138615174		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:12234878G>A	ENST00000256194.4	+	7	1056	c.768G>A	c.(766-768)gcG>gcA	p.A256A	MICAL2_ENST00000379612.3_Silent_p.A256A|MICAL2_ENST00000527546.1_Silent_p.A256A|MICAL2_ENST00000342902.5_Silent_p.A256A|MICAL2_ENST00000537344.1_Silent_p.A256A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	256	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACAGCACAGCGGAAGCCAAGG	0.448																																					p.A256A		.											.	MICAL2-92	0			c.G768A						.	G		1,4401	2.1+/-5.4	0,1,2200	142	156	151		768	-10	0.2	11	dbSNP_134	151	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		256/1125	12234878	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	9645	exon7			CACAGCGGAAGCC	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.768G>A	11.37:g.12234878G>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	101	99	NM_014632	0	0	0	0	0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																			G|1.000;A|0.000		0.448	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12234878	G	A	12234878	2	1	5	1	0	0	0	0	0	0	0	1	9608	1103	39	1		1	MICAL2	11	12234878	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7391792	12234878	122771638	325	786											
INSC	387755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	15262049	15262049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaggaacagcagtgacGccgtgcttgtggcctgcctg	15	11	0	2	rs201482506	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:15262049G>A	ENST00000379554.3	+	12	1637	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	INSC_ENST00000528567.1_Missense_Mutation_p.A484T|INSC_ENST00000424273.1_Missense_Mutation_p.A442T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.A442T|INSC_ENST00000530161.1_Missense_Mutation_p.A484T|INSC_ENST00000379556.3_Missense_Mutation_p.A484T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	531					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCAGTGACGCCGTGCTTGT	0.622													G|||	2	0.000399361	0	0	5008	,	,		17072	0.002		0	False		,,,				2504	0				p.A531T		.											.	INSC-94	0			c.G1591A						.	G	THR/ALA,THR/ALA	0,4082		0,0,2041	62	68	66		1591,1450	3.3	0.4	11		66	1,8389		0,1,4194	yes	missense,missense	INSC	NM_001031853.3,NM_001042536.1	58,58	0,1,6235	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	531/580,484/533	15262049	1,12471	2041	4195	6236	SO:0001583	missense	387755	exon12			AGTGACGCCGTGC	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1591G>A	11.37:g.15262049G>A	ENSP00000368872:p.Ala531Thr	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	112	51	NM_001031853	0	0	0	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.34	3.095184	0.56075	0.0	1.19E-4	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.85;0.8;0.8	5.48	3.27	0.37495	Armadillo-like helical (1);Armadillo-type fold (1);	0.198311	0.44688	D	0.000430	T	0.31071	0.0785	L	0.29908	0.895	0.36769	D	0.883708	P;B;P;P	0.43973	0.823;0.259;0.789;0.625	B;B;B;B	0.37015	0.239;0.063;0.128;0.128	T	0.34527	-0.9825	10	0.39692	T	0.17	-10.4051	9.6971	0.40165	0.0:0.1168:0.6726:0.2106	.	519;442;484;531	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	531;484;442;484;484;442	ENSP00000368872:A531T;ENSP00000368874:A484T;ENSP00000389161:A442T;ENSP00000435022:A484T;ENSP00000436194:A484T;ENSP00000436113:A442T	ENSP00000368872:A531T	A	+	1	0	INSC	15218625	1.000000	0.71417	0.395000	0.26283	0.786000	0.44442	4.614000	0.61183	1.405000	0.46838	0.650000	0.86243	GCC	G|0.999;A|0.000		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		A	15262049	G	A	15262049	3	1	5	1	0	0	0	0	1	0	0	0	7791	1087	38	1	1637	1	INSC	11	15262049	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3027171	15262049	119744467	326	787											
KCNJ11	3767	bcgsc.ca	37	chr11	17408630	17408630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggtgtgggcactttgaCggtgttgccaaacttggagt	16	6	0	1	rs5215	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:17408630C>T	ENST00000339994.4	-	1	1576	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KCNJ11_ENST00000528731.1_Missense_Mutation_p.V250I|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	337			I -> V (linked to K-23; dbSNP:rs5215). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:16429405, ECO:0000269|PubMed:16554811, ECO:0000269|PubMed:8897013, ECO:0000269|PubMed:9032109}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGCACTTTGACGGTGTTGCCA	0.617											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	3659	0.730631	0.9546	0.7032	5008	,	,		20339	0.6617		0.6471	False		,,,				2504	0.6043				p.V337I		.											.	KCNJ11-91	0			c.G1009A						.	T	ILE/VAL,ILE/VAL	4018,382	190.2+/-216.2	1833,352,15	165	145	152	http://www.ncbi.nlm.nih.gov/pubmed?term	1009,748	-6	0.8	11	dbSNP_52	152	5488,3098	473.5+/-368.6	1740,2008,545	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	29,29	3573,2360,560	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	36.082,8.6818,26.7981	benign,benign	337/391,250/304	17408630	9506,3480	2200	4293	6493	SO:0001583	missense	3767	exon1			CTTTGACGGTGTT	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1009G>A	11.37:g.17408630C>T	ENSP00000345708:p.Val337Ile	Somatic	200	1	717	WXS	Illumina GAIIx	Phase_I	255	8	NM_000525	0	0	0	0	0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	1573	0.7202380952380952	465	0.9451219512195121	250	0.6906077348066298	355	0.6206293706293706	503	0.6635883905013192	T	11.98	1.800702	0.31869	0.913182	0.63918	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.94138	-3.36;-3.36	5.43	-5.99	0.02213	.	0.498835	0.19829	N	0.105135	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	B	0.11235	0.004	B	0.13407	0.009	T	0.54754	-0.8246	8	0.48119	T	0.1	.	21.9712	0.99964	0.0:0.8139:0.0:0.1861	rs5215;rs56731467;rs5215	337	B2RC52	.	I	337;250	ENSP00000345708:V337I;ENSP00000434755:V250I	ENSP00000345708:V337I	V	-	1	0	KCNJ11	17365206	0.007000	0.16637	0.778000	0.31720	0.975000	0.68041	-0.140000	0.10342	-1.420000	0.02009	-0.361000	0.07541	GTC	C|0.272;T|0.728		0.617	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		T	17408630	C	T	17408630	3	4	5	1	0	0	0	0	1	0	0	0	8072	536	19	1	167	1	KCNJ11	11	17408630	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2146581	17408630	117597886	327	788											
HPS5	11234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	18339355	18339355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggatccagagattcaaaCtctgcaagaacatggctgta	9	8	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:18339355C>T	ENST00000349215.3	-	2	328	c.51G>A	c.(49-51)gaG>gaA	p.E17E	HPS5_ENST00000396253.3_Intron|HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	17					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGATTCAAACTCTGCAAGAA	0.443									Hermansky-Pudlak syndrome																												p.E17E		.											.	HPS5-133	0			c.G51A						.						77	70	72					11																	18339355		2199	4293	6492	SO:0001819	synonymous_variant	11234	exon2	Familial Cancer Database	HPS, HPS1-8	TTCAAACTCTGCA	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.51G>A	11.37:g.18339355C>T		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	117	6	NM_181507	0	0	0	0	0	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			.		0.443	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18339355	C	T	18339355	2	4	5	1	0	0	0	0	0	0	0	1	7369	564	20	3		3	HPS5	11	18339355	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	930725	18339355	116667161	328	789											
LDHA	3939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18422479	18422479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatttggtccagcgtaacGtgaacatctttaaattcatc	6	8	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:18422479G>A	ENST00000422447.3	+	4	613	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	LDHA_ENST00000379412.5_Missense_Mutation_p.V114M|LDHA_ENST00000540430.1_Missense_Mutation_p.V143M|LDHA_ENST00000542179.1_Missense_Mutation_p.V114M|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000396222.2_Missense_Mutation_p.V114M|LDHA_ENST00000227157.4_Missense_Mutation_p.V114M	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	114					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						CCAGCGTAACGTGAACATCTT	0.418																																					p.V143M		.											.	LDHA-650	0			c.G427A						.						99	82	88					11																	18422479		2199	4293	6492	SO:0001583	missense	3939	exon4			CGTAACGTGAACA	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.340G>A	11.37:g.18422479G>A	ENSP00000395337:p.Val114Met	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	130	76	NM_001165414	0	0	2	2	0	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282976	0.95489	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.064498	0.64402	N	0.000008	D	0.94689	0.8287	M	0.79693	2.465	0.80722	D	1	D;D;D;P	0.71674	0.977;0.983;0.998;0.741	B;P;P;P	0.52454	0.376;0.699;0.616;0.511	D	0.94998	0.8140	10	0.62326	D	0.03	-0.9052	18.9123	0.92490	0.0:0.0:1.0:0.0	.	143;87;114;114	B7Z5E3;B4DJI1;F8W819;P00338	.;.;.;LDHA_HUMAN	M	114;114;114;86;87;114;114;114;143;114;114	ENSP00000395337:V114M;ENSP00000440161:V114M;ENSP00000379524:V114M;ENSP00000227157:V114M;ENSP00000441241:V114M;ENSP00000446415:V114M;ENSP00000445175:V143M;ENSP00000368722:V114M;ENSP00000445331:V114M	ENSP00000227157:V114M	V	+	1	0	LDHA	18379055	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.560000	0.82277	2.771000	0.95319	0.561000	0.74099	GTG	.		0.418	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		A	18422479	G	A	18422479	3	1	5	1	0	0	0	0	1	0	0	0	8726	1145	40	1	441	1	LDHA	11	18422479	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	83124	18422479	116584037	329	790											
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	20075678	20075678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgcaaaagaatggttaCggtcccattctgcaggaggc	12	8	1	2	rs372406009		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:20075678C>T	ENST00000396087.3	+	19	4702	c.4603C>T	c.(4603-4605)Cgg>Tgg	p.R1535W	NAV2_ENST00000360655.4_Missense_Mutation_p.R1448W|NAV2_ENST00000527559.2_Missense_Mutation_p.R1464W|NAV2_ENST00000311043.8_Missense_Mutation_p.R576W|NAV2_ENST00000396085.1_Missense_Mutation_p.R1512W|NAV2_ENST00000533917.1_Missense_Mutation_p.R576W|NAV2_ENST00000540292.1_Missense_Mutation_p.R1466W|NAV2_ENST00000349880.4_Missense_Mutation_p.R1512W	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1535	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGAATGGTTACGGTCCCATTC	0.498																																					p.R1535W		.											.	NAV2-96	0			c.C4603T						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84	68	73		4342,1726,4534,4534	4	1	11		73	0,8600		0,0,4300	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1448/2366,576/1494,1512/2430,1512/2433	20075678	1,13005	2203	4300	6503	SO:0001583	missense	89797	exon19			TGGTTACGGTCCC	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.4603C>T	11.37:g.20075678C>T	ENSP00000379396:p.Arg1535Trp	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	86	74	NM_001244963	0	0	0	1	1	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747362	0.89663	2.27E-4	0.0	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.13;1.13;1.15;1.06;1.06;2.68;1.41;2.68	5.91	3.99	0.46301	.	0.000000	0.64402	D	0.000018	T	0.61085	0.2319	M	0.62723	1.935	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;0.997;0.998;1.0;0.999	T	0.60616	-0.7228	9	.	.	.	.	15.3187	0.74102	0.2428:0.7572:0.0:0.0	.	1512;1535;576;561;1512;1448	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	W	1448;1512;1512;1535;1464;1466;576;561;576;561	ENSP00000353871:R1448W;ENSP00000379394:R1512W;ENSP00000309577:R1512W;ENSP00000379396:R1535W;ENSP00000435395:R1464W;ENSP00000443489:R1466W;ENSP00000437316:R576W;ENSP00000437136:R561W;ENSP00000312169:R576W	.	R	+	1	2	NAV2	20032254	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.641000	0.61375	0.782000	0.33613	0.655000	0.94253	CGG	.		0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20075678	C	T	20075678	3	4	5	1	0	0	0	0	1	0	0	0	10222	527	19	1	4713	1	NAV2	11	20075678	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1653199	20075678	114930838	330	791											
LRRC4C	57689	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	40136451	40136451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgcctcatcctgagaCggttccatagtctctactgt	9	13	2	1	rs116285789	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:40136451C>T	ENST00000278198.2	-	2	3355	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	LRRC4C_ENST00000528697.1_Silent_p.P464P|LRRC4C_ENST00000530763.1_Silent_p.P464P|LRRC4C_ENST00000527150.1_Silent_p.P464P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	464					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CATCCTGAGACGGTTCCATAG	0.517													C|||	14	0.00279553	0.0091	0	5008	,	,		20971	0.002		0	False		,,,				2504	0				p.P464P		.											.	LRRC4C-521	0			c.G1392A						.	C		49,4357	49.6+/-84.7	1,47,2155	130	123	125		1392	4.7	1	11	dbSNP_132	125	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		1,47,6455	TT,TC,CC		0.0,1.1121,0.3767		464/641	40136451	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	57689	exon7			CTGAGACGGTTCC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1392G>A	11.37:g.40136451C>T		Somatic	168	1		WXS	Illumina GAIIx	Phase_I	183	88	NM_001258419	0	0	1	6	5	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																			C|0.996;T|0.004		0.517	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40136451	C	T	40136451	2	4	5	1	0	0	0	0	0	0	0	1	9043	523	19	1		1	LRRC4C	11	40136451	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	20060773	40136451	94870065	331	792											
SLC35C1	55343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	45832787	45832787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacatgatggtgctgggCggctcctccgcctacacctg	12	14	0	1	rs144046143		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:45832787C>T	ENST00000314134.3	+	2	2392	c.996C>T	c.(994-996)ggC>ggT	p.G332G	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Silent_p.G319G|SLC35C1_ENST00000442528.2_Silent_p.G319G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	332					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTGCTGGGCGGCTCCTCCG	0.642																																					p.G332G		.											.	SLC35C1-90	0			c.C996T						.						27	29	29					11																	45832787		2203	4299	6502	SO:0001819	synonymous_variant	55343	exon2			GCTGGGCGGCTCC		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.996C>T	11.37:g.45832787C>T		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	47	45	NM_018389	0	0	0	7	7	B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	CCDS7914.1																																																																																			C|1.000;T|0.000		0.642	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		T	45832787	C	T	45832787	2	4	5	1	0	0	0	0	0	0	0	1	14624	755	27	1		1	SLC35C1	11	45832787	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5696336	45832787	89173729	332	793											
CRY2	1408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	45892023	45892023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccatgccgagaccagcCggcttaacattgaacgaatg	9	12	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:45892023C>T	ENST00000443527.2	+	9	1574	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	CRY2_ENST00000417225.2_Missense_Mutation_p.R436W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	497					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CGAGACCAGCCGGCTTAACAT	0.537																																					p.R518W	Esophageal Squamous(106;91 1499 8126 12599 39610)	.											.	CRY2-90	0			c.C1552T						.						86	75	79					11																	45892023		2203	4299	6502	SO:0001583	missense	1408	exon9			ACCAGCCGGCTTA	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1552C>T	11.37:g.45892023C>T	ENSP00000406751:p.Arg518Trp	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	127	20	NM_021117	0	0	5	5	0	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553007	0.86127	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	5.63	0.86233	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.056451	0.64402	D	0.000001	D	0.84437	0.5472	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.993	P;D;P	0.66979	0.849;0.948;0.764	D	0.86633	0.1887	9	0.87932	D	0	-29.7749	19.6937	0.96012	0.0:1.0:0.0:0.0	.	497;518;436	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	W	436;518	.	ENSP00000397419:R436W	R	+	1	2	CRY2	45848599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.955000	0.40372	2.665000	0.90641	0.655000	0.94253	CGG	.		0.537	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		T	45892023	C	T	45892023	3	4	5	1	0	0	0	0	1	0	0	0	3911	643	23	1	1622	1	CRY2	11	45892023	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	59236	45892023	89114493	333	794											
ARHGAP1	392	broad.mit.edu	37	chr11	46703669	46703669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtcgctggtcaggccGtggtgcagatacagaagtgt	15	7	1	2	rs564406586		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:46703669G>A	ENST00000311956.4	-	5	478	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	127	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTCAGGCCGTGGTGCAGAT	0.607													g|||	1	0.000199681	0	0.0014	5008	,	,		18293	0		0	False		,,,				2504	0				p.H127H		.											.	ARHGAP1-227	0			c.C381T						.						242	184	204					11																	46703669		2201	4299	6500	SO:0001819	synonymous_variant	392	exon5			CAGGCCGTGGTGC	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.381C>T	11.37:g.46703669G>A		Somatic	273	0		WXS	Illumina GAIIx	Phase_I	221	6	NM_004308	0	0	2	2	0	D3DQQ6	Silent	SNP	ENST00000311956.4	37	CCDS7922.1																																																																																			.		0.607	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		A	46703669	G	A	46703669	2	1	5	1	0	0	0	0	0	0	0	1	861	1136	40	1		1	ARHGAP1	11	46703669	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	811646	46703669	88302847	334	795											
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	46914637	46914637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcgaggtgcctgagtcGgtccagtagagtttgtcatg	13	9	1	2	rs574108233		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:46914637G>A	ENST00000378623.1	-	13	1826	c.1584C>T	c.(1582-1584)acC>acT	p.T528T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	528					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)		TGCCTGAGTCGGTCCAGTAGA	0.592																																					p.T528T		.											.	LRP4-94	0			c.C1584T						.						52	46	48					11																	46914637		2201	4299	6500	SO:0001819	synonymous_variant	4038	exon13			TGAGTCGGTCCAG	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.1584C>T	11.37:g.46914637G>A		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	66	33	NM_002334	0	0	0	0	0	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																			.		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46914637	G	A	46914637	2	1	5	1	0	0	0	0	0	0	0	1	8994	1103	39	1		1	LRP4	11	46914637	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	210968	46914637	88091879	335	796											
PACSIN3	29763	hgsc.bcm.edu	37	chr11	47202120	47202120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccccccgctgccaggcGcgcacccgctcactgtcctg	10	20	1	0	rs2291445	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:47202120G>A	ENST00000539589.1	-	5	675	c.333C>T	c.(331-333)cgC>cgT	p.R111R	PACSIN3_ENST00000298838.6_Silent_p.R111R	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	111	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCTGCCAGGCGCGCACCCGCT	0.711													G|||	152	0.0303514	0	0.0663	5008	,	,		14125	0.0982		0	False		,,,				2504	0.0072				p.R111R		.											.	PACSIN3-68	0			c.C333T						.	G	,,	9,4355		0,9,2173	20	24	22		333,333,333	-6.6	0	11	dbSNP_100	22	2,8530		0,2,4264	no	coding-synonymous,coding-synonymous,coding-synonymous	PACSIN3	NM_001184974.1,NM_001184975.1,NM_016223.4	,,	0,11,6437	AA,AG,GG		0.0234,0.2062,0.0853	,,	111/425,111/425,111/425	47202120	11,12885	2182	4266	6448	SO:0001819	synonymous_variant	29763	exon5			CCAGGCGCGCACC	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.333C>T	11.37:g.47202120G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_016223	0	0	0	4	4	A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	CCDS31481.1																																																																																			G|0.984;A|0.016		0.711	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		A	47202120	G	A	47202120	2	1	5	1	0	0	0	0	0	0	0	1	11415	1074	38	1		1	PACSIN3	11	47202120	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	287483	47202120	87804396	336	797											
PTPRJ	5795	broad.mit.edu;bcgsc.ca	37	chr11	48161171	48161171	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggagcctggaacaatgcGacccacctggagagctgctc	13	12	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:48161171G>A	ENST00000418331.2	+	11	2638	c.2286G>A	c.(2284-2286)gcG>gcA	p.A762A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	762	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A762A(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAACAATGCGACCCACCTGG	0.537																																					p.A762A		.											.	PTPRJ-541	1	Substitution - coding silent(1)	large_intestine(1)	c.G2286A						.						91	85	87					11																	48161171		2201	4298	6499	SO:0001819	synonymous_variant	5795	exon11			CAATGCGACCCAC	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.2286G>A	11.37:g.48161171G>A		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	134	6	NM_002843	0	0	0	0	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	CCDS7945.1																																																																																			.		0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48161171	G	A	48161171	2	1	5	1	0	0	0	0	0	0	0	1	12849	1045	37	1		1	PTPRJ	11	48161171	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	959051	48161171	86845345	337	798											
ZDHHC5	25921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57466653	57466653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcgggccatgcccctcGtactagttcctcctcagatg	10	15	1	1	rs567126462		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:57466653G>A	ENST00000287169.3	+	11	3107	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R529H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	582					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CATGCCCCTCGTACTAGTTCC	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		18827	0		0	False		,,,				2504	0				p.R582H		.											.	ZDHHC5-226	0			c.G1745A						.						77	82	80					11																	57466653		2201	4296	6497	SO:0001583	missense	25921	exon11			CCCCTCGTACTAG	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1745G>A	11.37:g.57466653G>A	ENSP00000287169:p.Arg582His	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	57	53	NM_015457	0	0	0	8	8	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256469	0.39896	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59364	0.27;1.26	5.83	4.91	0.64330	.	0.263831	0.38663	N	0.001602	T	0.57301	0.2044	N	0.14661	0.345	0.45567	D	0.998517	D	0.64830	0.994	D	0.67382	0.951	T	0.58335	-0.7654	10	0.45353	T	0.12	-7.0775	12.3089	0.54918	0.0781:0.0:0.9219:0.0	.	582	Q9C0B5	ZDHC5_HUMAN	H	529;582	ENSP00000432202:R529H;ENSP00000287169:R582H	ENSP00000287169:R582H	R	+	2	0	ZDHHC5	57223229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.930000	0.56522	2.769000	0.95229	0.655000	0.94253	CGT	.		0.597	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		A	57466653	G	A	57466653	3	1	5	1	0	0	0	0	1	0	0	0	17666	1145	40	1	1783	1	ZDHHC5	11	57466653	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9305482	57466653	77539863	338	799											
GLYATL1	92292	broad.mit.edu;bcgsc.ca	37	chr11	58723211	58723211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatagaagacctgccagCagcctgtatgctcggcccag	11	14	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:58723211C>T	ENST00000317391.4	+	8	960	c.620C>T	c.(619-621)gCa>gTa	p.A207V	GLYATL1_ENST00000300079.5_Missense_Mutation_p.A238V|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	207						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)	GACCTGCCAGCAGCCTGTATG	0.522																																					p.A238V		.											.	GLYATL1-91	0			c.C713T						.						49	49	49					11																	58723211		2201	4295	6496	SO:0001583	missense	92292	exon7			TGCCAGCAGCCTG	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.620C>T	11.37:g.58723211C>T	ENSP00000322223:p.Ala207Val	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	121	5	NM_080661	0	0	0	0	0	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.833109	0.32421	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.18174	2.23;2.23	2.66	-2.22	0.06952	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.523771	0.16571	N	0.208616	T	0.10294	0.0252	L	0.29908	0.895	0.09310	N	1	B;B	0.34313	0.448;0.107	B;B	0.35278	0.199;0.15	T	0.19031	-1.0318	10	0.72032	D	0.01	.	5.6334	0.17524	0.0:0.2619:0.5751:0.163	.	238;207	Q969I3-2;Q969I3	.;GLYL1_HUMAN	V	184;207;238	ENSP00000322223:A207V;ENSP00000300079:A238V	ENSP00000300079:A238V	A	+	2	0	GLYATL1	58479787	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.171000	0.01267	-0.190000	0.10465	0.411000	0.27672	GCA	.		0.522	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58723211	C	T	58723211	3	4	5	1	0	0	0	0	1	0	0	0	6506	710	25	3	739	3	GLYATL1	11	58723211	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1256558	58723211	76283305	339	800											
PRPF19	27339	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	60666651	60666651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagctcaggagatagtcGccagtggcatgaaggctgag	17	7	1	3	rs147483370	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:60666651G>A	ENST00000227524.4	-	11	1159	c.954C>T	c.(952-954)ggC>ggT	p.G318G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.G318G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GGAGATAGTCGCCAGTGGCAT	0.597											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	10	0.00199681	0	0.0014	5008	,	,		17802	0		0.0089	False		,,,				2504	0				p.G318G		.											.	PRPF19-91	1	Substitution - coding silent(1)	lung(1)	c.C954T						.	G		12,4394	19.1+/-41.9	0,12,2191	49	39	42		954	-8.2	1	11	dbSNP_134	42	80,8518	47.6+/-106.9	0,80,4219	no	coding-synonymous	PRPF19	NM_014502.4		0,92,6410	AA,AG,GG		0.9304,0.2724,0.7075		318/505	60666651	92,12912	2203	4299	6502	SO:0001819	synonymous_variant	27339	exon11			ATAGTCGCCAGTG	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.954C>T	11.37:g.60666651G>A		Somatic	108	2	1047	WXS	Illumina GAIIx	Phase_I	72	64	NM_014502	0	0	1	16	15		Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																			G|0.993;A|0.007		0.597	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		A	60666651	G	A	60666651	2	1	5	1	0	0	0	0	0	0	0	1	12606	1074	38	1		1	PRPF19	11	60666651	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1943440	60666651	74339865	340	801											
AHNAK	79026	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	62298815	62298815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaatgtccacattcGctttggacaggttcacatca	9	10	2	1	rs201304148		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62298815G>A	ENST00000378024.4	-	5	3348	c.3074C>T	c.(3073-3075)gCg>gTg	p.A1025V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1025					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)				GTCCACATTCGCTTTGGACAG	0.458																																					p.A1025V		.											.	AHNAK-109	0			c.C3074T						.						103	101	102					11																	62298815		2202	4299	6501	SO:0001583	missense	79026	exon5			ACATTCGCTTTGG	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.3074C>T	11.37:g.62298815G>A	ENSP00000367263:p.Ala1025Val	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	107	16	NM_001620	0	0	2	2	0	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	4.494	0.091636	0.08632	.	.	ENSG00000124942	ENST00000378024	T	0.05580	3.42	4.63	2.59	0.31030	.	0.789584	0.11495	N	0.558323	T	0.07413	0.0187	M	0.72118	2.19	0.09310	N	1	B	0.29627	0.252	B	0.21708	0.036	T	0.32693	-0.9897	10	0.24483	T	0.36	-4.8098	5.0552	0.14529	0.1926:0.2746:0.5329:0.0	.	1025	Q09666	AHNK_HUMAN	V	1025	ENSP00000367263:A1025V	ENSP00000367263:A1025V	A	-	2	0	AHNAK	62055391	0.000000	0.05858	0.407000	0.26434	0.249000	0.25844	-0.364000	0.07583	1.077000	0.40990	0.555000	0.69702	GCG	G|1.000;C|0.000		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62298815	G	A	62298815	3	1	5	1	0	0	0	0	1	0	0	0	414	1087	38	1	14718	1	AHNAK	11	62298815	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1632164	62298815	72707701	341	802											
NXF1	10482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62561845	62561845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtgggtgcaggcatagCgaaggctctttggatctctt	15	8	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62561845C>T	ENST00000532297.1	-	20	2274	c.1645G>A	c.(1645-1647)Gct>Act	p.A549T	NXF1_ENST00000533048.1_5'UTR|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.A549T			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	549					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGCATAGCGAAGGCTCTT	0.502																																					p.A549T		.											.	NXF1-228	0			c.G1645A						.						122	114	117					11																	62561845		2201	4299	6500	SO:0001583	missense	10482	exon19			GCATAGCGAAGGC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1645G>A	11.37:g.62561845C>T	ENSP00000436679:p.Ala549Thr	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	132	64	NM_006362	0	0	34	67	33	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141839	0.57044	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.47177	0.85;0.85;0.86	5.38	4.44	0.53790	.	0.185771	0.46758	D	0.000280	T	0.24736	0.0600	N	0.05230	-0.09	0.80722	D	1	B;B	0.24533	0.105;0.059	B;B	0.12156	0.007;0.005	T	0.06006	-1.0851	10	0.15499	T	0.54	-19.7099	12.9794	0.58555	0.163:0.837:0.0:0.0	.	592;549	E9PIN3;Q9UBU9	.;NXF1_HUMAN	T	549;549;592	ENSP00000294172:A549T;ENSP00000436679:A549T;ENSP00000435742:A592T	ENSP00000294172:A549T	A	-	1	0	NXF1	62318421	1.000000	0.71417	0.986000	0.45419	0.953000	0.61014	5.799000	0.69101	1.229000	0.43630	0.462000	0.41574	GCT	.		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		T	62561845	C	T	62561845	3	4	5	1	0	0	0	0	1	0	0	0	10821	768	27	1	226	1	NXF1	11	62561845	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	263030	62561845	72444671	342	803											
SLC22A8	9376	bcgsc.ca	37	chr11	62782278	62782278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggaggcattgtggggCgggcgacagtggtggacagg	21	7	0	0	rs4149180	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:62782278C>T	ENST00000336232.2	-	2	288	c.153G>A	c.(151-153)ccG>ccA	p.P51P	SLC22A8_ENST00000430500.2_Silent_p.P51P|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.P51P	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	51					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CATTGTGGGGCGGGCGACAGT	0.622													C|||	955	0.190695	0.5817	0.062	5008	,	,		20022	0.0446		0.0268	False		,,,				2504	0.0726				p.P51P		.											.	SLC22A8-93	0			c.G153A						.	C	,,,	2161,2241	583.8+/-385.9	539,1083,579	162	171	168		153,,,153	-6.9	0.7	11	dbSNP_110	168	245,8351	96.8+/-158.5	2,241,4055	no	coding-synonymous,intron,intron,coding-synonymous	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	,,,	541,1324,4634	TT,TC,CC		2.8502,49.0913,18.5105	,,,	51/543,,,51/543	62782278	2406,10592	2201	4298	6499	SO:0001819	synonymous_variant	9376	exon2			GTGGGGCGGGCGA	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.153G>A	11.37:g.62782278C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	85	6	NM_001184732	0	0	0	0	0	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	CCDS8042.1																																																																																			C|0.824;T|0.176		0.622	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		T	62782278	C	T	62782278	2	4	5	1	0	0	0	0	0	0	0	1	14505	755	27	1		1	SLC22A8	11	62782278	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	220433	62782278	72224238	343	804											
C11orf84	144097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63594410	63594410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcccagctccccctccGgggctccgcgggacactgga	12	20	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:63594410G>A	ENST00000294244.4	+	6	1244	c.945G>A	c.(943-945)ccG>ccA	p.P315P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	315										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTCCCCCTCCGGGGCTCCGCG	0.677																																					p.P315P		.											.	C11orf84-90	0			c.G945A						.						12	14	13					11																	63594410		2193	4292	6485	SO:0001819	synonymous_variant	144097	exon6			CCCTCCGGGGCTC	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.945G>A	11.37:g.63594410G>A		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	58	25	NM_138471	0	0	1	1	0	Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	CCDS31594.1																																																																																			.		0.677	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		A	63594410	G	A	63594410	2	1	5	1	0	0	0	0	0	0	0	1	1672	1103	39	1		1	C11orf84	11	63594410	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	812132	63594410	71412106	344	805											
SLC22A12	116085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64368361	64368361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgcactgcttctgcccGagacccagagcttgccgctg	12	16	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:64368361G>A	ENST00000377574.1	+	9	2296	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	SLC22A12_ENST00000473690.1_Missense_Mutation_p.E296K|SLC22A12_ENST00000336464.7_Missense_Mutation_p.E483K|SLC22A12_ENST00000377567.2_Missense_Mutation_p.E409K|SLC22A12_ENST00000377572.1_Missense_Mutation_p.E409K	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	517					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)	GCTTCTGCCCGAGACCCAGAG	0.662																																					p.E517K		.											.	SLC22A12-91	0			c.G1549A						.						87	89	88					11																	64368361		2201	4297	6498	SO:0001583	missense	116085	exon9			CTGCCCGAGACCC	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.1549G>A	11.37:g.64368361G>A	ENSP00000366797:p.Glu517Lys	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	35	12	NM_144585	0	0	0	0	0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059430	0.76074	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	H	0.97611	4.04	0.43841	D	0.996428	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.97;0.998;0.979	D	0.89619	0.3847	10	0.87932	D	0	.	14.2686	0.66138	0.0:0.0:1.0:0.0	.	483;409;517	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	K	409;517;409;296;483	ENSP00000366790:E409K;ENSP00000366797:E517K;ENSP00000366795:E409K;ENSP00000438437:E296K;ENSP00000336836:E483K	ENSP00000336836:E483K	E	+	1	0	SLC22A12	64124937	1.000000	0.71417	0.983000	0.44433	0.236000	0.25371	5.810000	0.69179	1.943000	0.56356	0.561000	0.74099	GAG	.		0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		A	64368361	G	A	64368361	3	1	5	1	0	0	0	0	1	0	0	0	14488	1059	37	1	1583	1	SLC22A12	11	64368361	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	773951	64368361	70638155	345	806											
MEN1	4221	hgsc.bcm.edu	37	chr11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-													gacagtcccaggaggcttccGggggggtcctgacactgcac							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:64572093delG	ENST00000337652.1	-	10	2064	c.1561delC	c.(1561-1563)cggfs	p.R521fs	MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377321.1_Frame_Shift_Del_p.R481fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377313.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.R516fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.R461fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.R521fs|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000443283.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000312049.6_Frame_Shift_Del_p.R516fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	521					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGAGGCTTCCGGGGGGGTCCT	0.716			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.R521fs	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	3	Insertion - Frameshift(3)	parathyroid(2)|large_intestine(1)	c.1561delC	GRCh37	CD972318|CM080439	MEN1	D|M		.						14	15	15					11																	64572093		2198	4290	6488	SO:0001589	frameshift_variant	4221	exon10	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	GCTTCCGGGGGGG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1561delC	11.37:g.64572093delG	ENSP00000337088:p.Arg521fs	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	18	17	NM_130800	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	CCDS8083.1																																																																																			.		0.716	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			-	64572093	G	-	64572093	7	5	5	1	0	1	0	1	0	0	0	0	9510	1115	39	0	290	0	MEN1	11	64572093	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	203732	64572093	70434423	346	807											
POLA2	23649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65034978	65034978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagattatcgaaagccaggCatagtacctgcaaggacagt	10	8	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:65034978C>T	ENST00000265465.3	+	3	766	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	79					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)	GAAAGCCAGGCATAGTACCTG	0.408																																					p.H79Y		.											.	POLA2-227	0			c.C235T						.						161	144	150					11																	65034978		2201	4297	6498	SO:0001583	missense	23649	exon3			GCCAGGCATAGTA	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.235C>T	11.37:g.65034978C>T	ENSP00000265465:p.His79Tyr	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	58	48	NM_002689	0	0	1	1	0	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860393	0.32884	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.22539	1.95	5.54	4.63	0.57726	DNA polymerase alpha, subunit B N-terminal (1);	0.670571	0.15102	N	0.280460	T	0.22205	0.0535	L	0.47716	1.5	0.29388	N	0.862803	B;B	0.29378	0.09;0.243	B;B	0.34536	0.099;0.185	T	0.13072	-1.0523	10	0.46703	T	0.11	-1.4023	10.1407	0.42734	0.0:0.9081:0.0:0.0919	.	39;79	E9PIQ6;Q14181	.;DPOA2_HUMAN	Y	79;39	ENSP00000265465:H79Y	ENSP00000265465:H79Y	H	+	1	0	POLA2	64791554	0.001000	0.12720	0.006000	0.13384	0.184000	0.23303	0.948000	0.29096	1.334000	0.45468	0.313000	0.20887	CAT	.		0.408	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		T	65034978	C	T	65034978	3	4	5	1	0	0	0	0	1	0	0	0	12227	710	25	3	245	3	POLA2	11	65034978	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	462885	65034978	69971538	347	808											
PELI3	246330	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66243098	66243098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccaacgtgctgcaggaCggctctctcatcgacctgtg	12	13	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:66243098C>T	ENST00000320740.7	+	8	1030	c.870C>T	c.(868-870)gaC>gaT	p.D290D	CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.D266D|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	290					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGCTGCAGGACGGCTCTCTCA	0.667																																					p.D290D		.											.	PELI3-91	0			c.C870T						.						46	45	46					11																	66243098		2189	4280	6469	SO:0001819	synonymous_variant	246330	exon8			GCAGGACGGCTCT	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.870C>T	11.37:g.66243098C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	238	19	NM_145065	0	0	1	1	0	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	CCDS31615.1																																																																																			.		0.667	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		T	66243098	C	T	66243098	2	4	5	1	0	0	0	0	0	0	0	1	11762	535	19	1		1	PELI3	11	66243098	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1208120	66243098	68763418	348	809											
NUMA1	4926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	71718457	71718457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggacgctggtgccGtctggctgggtacgaggcag	17	11	2	0	rs575875975		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:71718457G>A	ENST00000393695.3	-	21	5572	c.5241C>T	c.(5239-5241)gaC>gaT	p.D1747D	NUMA1_ENST00000351960.6_Silent_p.D611D|NUMA1_ENST00000358965.6_Silent_p.D1733D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGCTGGTGCCGTCTGGCTGGG	0.567			T	RARA	APL								G|||	1	0.000199681	0	0	5008	,	,		19052	0		0	False		,,,				2504	0.001				p.D1747D		.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1-633	0			c.C5241T						.						40	41	41					11																	71718457		2200	4293	6493	SO:0001819	synonymous_variant	4926	exon21			GGTGCCGTCTGGC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5241C>T	11.37:g.71718457G>A		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	54	52	NM_006185	0	0	5	51	46		Silent	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889075	0.17540	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.58	-0.366	0.12545	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45425	-0.9262	4	.	.	.	.	8.1495	0.31132	0.6282:0.0:0.3718:0.0	.	.	.	.	M	596	.	.	T	-	2	0	NUMA1	71396105	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	0.937000	0.28951	-0.160000	0.11002	-0.367000	0.07326	ACG	.		0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			A	71718457	G	A	71718457	2	1	5	1	0	0	0	0	0	0	0	1	10789	1136	40	1		1	NUMA1	11	71718457	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5475359	71718457	63288059	349	810											
PHOX2A	401	hgsc.bcm.edu	37	chr11	71951242	71951242	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggttctggaaccagaCctgcgggcacaggggccagt	16	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:71951242C>T	ENST00000298231.5	-	3	577	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	136					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAACCAGACCTGCGGGCAC	0.716																																					p.V136I		.											.	PHOX2A-90	0			c.G406A						.						2	2	2					11																	71951242		1668	3437	5105	SO:0001630	splice_region_variant	401	exon3			ACCAGACCTGCGG	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.406-1G>A	11.37:g.71951242C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_005169	0	0	0	0	0	A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	c	35	5.526224	0.96431	.	.	ENSG00000165462	ENST00000298231	D	0.96459	-4.02	4.46	4.46	0.54185	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.45361	D	0.000374	D	0.96225	0.8769	L	0.39020	1.185	0.80722	D	1	B	0.34103	0.437	P	0.51016	0.656	D	0.96672	0.9497	10	0.66056	D	0.02	.	16.071	0.80936	0.0:1.0:0.0:0.0	.	136	O14813	PHX2A_HUMAN	I	136	ENSP00000298231:V136I	ENSP00000298231:V136I	V	-	1	0	PHOX2A	71628890	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.522000	0.81844	2.177000	0.69029	0.400000	0.26472	GTC	.		0.716	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169	Missense_Mutation	T	71951242	C	T	71951242	5	4	5	1	0	0	0	0	0	0	1	0	11897	521	18	3	452	3	PHOX2A	11	71951242	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	232785	71951242	63055274	350	811											
RPS3	6188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	75115215	75115215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccctgttaactactacGttgacactgctgtgcgccac	9	13	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:75115215G>A	ENST00000531188.1	+	5	564	c.502G>A	c.(502-504)Gtt>Att	p.V168I	RPS3_ENST00000527446.1_Missense_Mutation_p.V168I|RPS3_ENST00000278572.6_Missense_Mutation_p.V184I|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.V168I|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000526608.1_Missense_Mutation_p.V156I	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	168					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						TAACTACTACGTTGACACTGC	0.522																																					p.V184I		.											.	RPS3-90	0			c.G550A						.						89	74	79					11																	75115215		2200	4293	6493	SO:0001583	missense	6188	exon5			TACTACGTTGACA		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.502G>A	11.37:g.75115215G>A	ENSP00000434643:p.Val168Ile	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	179	159	NM_001260506	0	0	70	925	855	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.275525	0.23307	.	.	ENSG00000149273	ENST00000531188;ENST00000422465;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.	.	.	5.73	4.82	0.62117	Ribosomal protein S3, conserved site (1);Ribosomal protein S3, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.11756	0.17	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.16453	-1.0402	9	0.25106	T	0.35	-13.6846	11.7951	0.52096	0.084:0.0:0.916:0.0	.	168	P23396	RS3_HUMAN	I	168;42;184;168;156;168	.	ENSP00000278572:V184I	V	+	1	0	RPS3	74792863	1.000000	0.71417	0.914000	0.36105	0.530000	0.34684	8.018000	0.88722	2.724000	0.93272	0.645000	0.84053	GTT	.		0.522	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		A	75115215	G	A	75115215	3	1	5	1	0	0	0	0	1	0	0	0	13688	1145	40	1	520	1	RPS3	11	75115215	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3163973	75115215	59891301	351	812											
MYO7A	4647	bcgsc.ca	37	chr11	76912590	76912590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaactcgggctgggccaaCggcatcaatgagaggaccaa	13	10	1	2	rs80033599	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:76912590C>T	ENST00000409709.3	+	36	5222	c.4950C>T	c.(4948-4950)aaC>aaT	p.N1650N	MYO7A_ENST00000458637.2_Silent_p.N1612N|MYO7A_ENST00000409619.2_Silent_p.N1601N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1650	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						GCTGGGCCAACGGCATCAATG	0.602													C|||	101	0.0201677	0.0756	0	5008	,	,		17776	0		0.001	False		,,,				2504	0				p.N1650N		.											.	MYO7A-138	0			c.C4950T						.	C	,	266,4068		9,248,1910	75	81	79		4950,4836	-7.5	0.2	11	dbSNP_131	79	2,8490		0,2,4244	no	coding-synonymous,coding-synonymous	MYO7A	NM_000260.3,NM_001127180.1	,	9,250,6154	TT,TC,CC		0.0236,6.1375,2.0895	,	1650/2216,1612/2176	76912590	268,12558	2167	4246	6413	SO:0001819	synonymous_variant	4647	exon36			GGCCAACGGCATC	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.4950C>T	11.37:g.76912590C>T		Somatic	228	0		WXS	Illumina GAIIx	Phase_I	233	9	NM_000260	0	0	0	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			C|0.986;T|0.014		0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76912590	C	T	76912590	2	4	5	1	0	0	0	0	0	0	0	1	10120	535	19	1		1	MYO7A	11	76912590	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1797375	76912590	58093926	352	813											
INTS4	92105	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	77614597	77614597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcttacctgtttcgctgCtgctgaggccaaatcactct	8	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:77614597C>T	ENST00000534064.1	-	17	2120	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	INTS4_ENST00000535943.1_Missense_Mutation_p.A71T|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	696					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTTTCGCTGCTGCTGAGGCC	0.478																																					p.A696T		.											.	INTS4-92	0			c.G2086A						.						66	56	60					11																	77614597		2200	4292	6492	SO:0001583	missense	92105	exon17			TCGCTGCTGCTGA	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2086G>A	11.37:g.77614597C>T	ENSP00000434466:p.Ala696Thr	Somatic	303	3		WXS	Illumina GAIIx	Phase_I	279	101	NM_033547	0	0	0	0	0	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180645	0.78677	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.73321	0.3572	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.68273	-0.5452	9	0.17832	T	0.49	-7.4779	17.1532	0.86783	0.0:1.0:0.0:0.0	.	696	Q96HW7	INT4_HUMAN	T	696;71	.	ENSP00000434466:A696T	A	-	1	0	INTS4	77292245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.267000	0.72546	2.447000	0.82792	0.585000	0.79938	GCA	.		0.478	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		T	77614597	C	T	77614597	3	4	5	1	0	0	0	0	1	0	0	0	7807	797	28	3	833	3	INTS4	11	77614597	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	702007	77614597	57391919	353	814											
KCTD21	283219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	77885166	77885166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgctgaagatgttggcGttgaagacctccatgctgga	15	7	0	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	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;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552																																					p.N145N		.											.	KCTD21-69	0			c.C435T						.						143	123	130					11																	77885166		2200	4292	6492	SO:0001819	synonymous_variant	283219	exon2			GTTGGCGTTGAAG	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.435C>T	11.37:g.77885166G>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	81	68	NM_001029859	0	0	0	0	0	B4DTR0	Silent	SNP	ENST00000340067.3	37	CCDS31645.1																																																																																			.		0.552	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		A	77885166	G	A	77885166	2	1	5	1	0	0	0	0	0	0	0	1	8136	1136	40	1		1	KCTD21	11	77885166	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	270569	77885166	57121350	354	815											
CCDC83	220047	broad.mit.edu	37	chr11	85597253	85597253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaacagatatgcgcatGcaaataagtaatgctgagaa	8	6	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:85597253G>A	ENST00000342404.3	+	5	570	c.354G>A	c.(352-354)atG>atA	p.M118I	CCDC83_ENST00000280245.4_Missense_Mutation_p.M118I|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	118										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)				ATATGCGCATGCAAATAAGTA	0.343																																					p.M118I		.											.	CCDC83-91	0			c.G354A						.						64	58	60					11																	85597253		2203	4299	6502	SO:0001583	missense	220047	exon5			GCGCATGCAAATA	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.354G>A	11.37:g.85597253G>A	ENSP00000344512:p.Met118Ile	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	77	5	NM_173556	0	0	0	0	0	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.079922	0.00375	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.40756	1.02;1.04	5.26	-0.43	0.12299	.	1.116970	0.06567	N	0.747889	T	0.16938	0.0407	N	0.02736	-0.51	0.20873	N	0.999834	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20405	-1.0276	9	.	.	.	0.7893	4.9854	0.14187	0.442:0.3034:0.2546:0.0	.	118;118	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	I	118	ENSP00000280245:M118I;ENSP00000344512:M118I	.	M	+	3	0	CCDC83	85274901	0.004000	0.15560	0.179000	0.23059	0.008000	0.06430	-0.157000	0.10085	-0.439000	0.07222	-0.827000	0.03088	ATG	.		0.343	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		A	85597253	G	A	85597253	3	1	5	1	0	0	0	0	1	0	0	0	2864	1319	46	3	368	3	CCDC83	11	85597253	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7712087	85597253	49409263	355	816											
SLC36A4	120103	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	92881964	92881964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctgctcacagctccaacGaaggaaatcacaatgtctaa	7	12	3	0	rs267603248		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:92881964G>A	ENST00000326402.4	-	11	1384	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	SLC36A4_ENST00000529184.1_Silent_p.F283F	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	418					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCTCCAACGAAGGAAATCA	0.363																																					p.F418F		.											.	SLC36A4-93	0			c.C1254T						.						60	64	62					11																	92881964		2200	4297	6497	SO:0001819	synonymous_variant	120103	exon11			TCCAACGAAGGAA	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1254C>T	11.37:g.92881964G>A		Somatic	207	2		WXS	Illumina GAIIx	Phase_I	150	141	NM_152313	0	0	0	1	1	Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	CCDS8291.1																																																																																			.		0.363	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			A	92881964	G	A	92881964	2	1	5	1	0	0	0	0	0	0	0	1	14641	1049	37	1		1	SLC36A4	11	92881964	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7284711	92881964	42124552	356	817											
HEPHL1	341208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	93826774	93826774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttgtggagatcaaagcccGaccaccacgagaggagcact	11	11	1	2	rs200108606	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:93826774G>A	ENST00000315765.9	+	13	2410	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	801	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)				ATCAAAGCCCGACCACCACGA	0.473													G|||	2	0.000399361	0.0015	0	5008	,	,		15916	0		0	False		,,,				2504	0				p.R801Q		.											.	HEPHL1-71	0			c.G2402A						.						126	122	123					11																	93826774		1941	4145	6086	SO:0001583	missense	341208	exon13			AAGCCCGACCACC	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.2402G>A	11.37:g.93826774G>A	ENSP00000313699:p.Arg801Gln	Somatic	226	0		WXS	Illumina GAIIx	Phase_I	175	9	NM_001098672	0	0	0	0	0	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.3	4.726812	0.89390	.	.	ENSG00000181333	ENST00000315765	D	0.99098	-5.42	5.68	4.77	0.60923	Cupredoxin (2);	0.106321	0.64402	D	0.000013	D	0.98982	0.9653	M	0.64676	1.99	0.34502	D	0.706127	D	0.89917	1.0	D	0.79108	0.992	D	0.99972	1.2061	10	0.51188	T	0.08	.	14.9178	0.70812	0.069:0.0:0.931:0.0	.	801	Q6MZM0	HPHL1_HUMAN	Q	801	ENSP00000313699:R801Q	ENSP00000313699:R801Q	R	+	2	0	HEPHL1	93466422	0.998000	0.40836	0.483000	0.27378	0.952000	0.60782	5.780000	0.68956	1.413000	0.46997	0.549000	0.68633	CGA	G|0.999;A|0.000		0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93826774	G	A	93826774	3	1	5	1	0	0	0	0	1	0	0	0	7082	1058	37	1	2452	1	HEPHL1	11	93826774	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	944810	93826774	41179742	357	818											
FUT4	2526	hgsc.bcm.edu	37	chr11	94278062	94278062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggcccccgccctggggcAtccaggcgcacactgccgag	13	18	0	0	rs2230273	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:94278062A>G	ENST00000358752.2	+	1	1046	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	255			I -> V (in dbSNP:rs2230273).		carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCTGGGGCATCCAGGCGCA	0.726													G|||	517	0.103235	0.32	0.0317	5008	,	,		9733	0.0139		0.0139	False		,,,				2504	0.045				p.I255V		.											.	FUT4-91	0			c.A763G						.	G	VAL/ILE	801,3091		86,629,1231	7	8	8		763	2	0	11	dbSNP_98	8	62,7852		1,60,3896	yes	missense	FUT4	NM_002033.3	29	87,689,5127	GG,GA,AA		0.7834,20.5807,7.3098	benign	255/531	94278062	863,10943	1946	3957	5903	SO:0001583	missense	2526	exon1			TGGGGCATCCAGG		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.763A>G	11.37:g.94278062A>G	ENSP00000351602:p.Ile255Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	16	NM_002033	0	0	0	0	0	B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	173	0.07921245421245421	148	0.3008130081300813	12	0.03314917127071823	5	0.008741258741258742	8	0.010554089709762533	g	0.006	-2.069712	0.00382	0.205807	0.007834	ENSG00000196371	ENST00000358752	T	0.30182	1.54	4.0	2.01	0.26516	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43475	-0.9389	8	0.02654	T	1	.	6.5473	0.22412	0.3539:0.0:0.6461:0.0	rs2230273;rs2230273	255	P22083	FUT4_HUMAN	V	255	ENSP00000351602:I255V	ENSP00000351602:I255V	I	+	1	0	FUT4	93917710	0.343000	0.24818	0.012000	0.15200	0.047000	0.14425	1.265000	0.33027	0.061000	0.16311	-0.374000	0.07098	ATC	A|0.910;G|0.090		0.726	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		G	94278062	A	G	94278062	3	3	5	1	0	0	0	0	1	0	0	0	6130	217	8	4	765	4	FUT4	11	94278062	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	451288	94278062	40728454	358	819											
POU2AF1	5450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	111229514	111229514	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacacacaaactctcaccGccgtaggtgcaggtgctgcc	9	16	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:111229514G>A	ENST00000393067.3	-	2	660	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	49					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		AACTCTCACCGCCGTAGGTGC	0.562			T	BCL6	NHL																																p.A49V		.		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	.	POU2AF1-658	0			c.C146T						.						80	50	60					11																	111229514		2196	4292	6488	SO:0001630	splice_region_variant	5450	exon2			CTCACCGCCGTAG		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.147+1C>T	11.37:g.111229514G>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	74	35	NM_006235	0	0	0	0	0	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368631	0.42003	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.34859	1.34;1.34	4.31	4.31	0.51392	.	0.140097	0.45867	D	0.000328	T	0.29914	0.0748	L	0.38838	1.175	0.38973	D	0.958783	P	0.43750	0.816	B	0.41374	0.355	T	0.09487	-1.0672	10	0.23302	T	0.38	-7.4748	14.732	0.69388	0.0:0.0:1.0:0.0	.	49	Q16633	OBF1_HUMAN	V	49;51	ENSP00000376786:A49V;ENSP00000433527:A51V	ENSP00000376786:A49V	A	-	2	0	POU2AF1	110734724	1.000000	0.71417	0.996000	0.52242	0.224000	0.24922	6.237000	0.72345	2.248000	0.74166	0.305000	0.20034	GCG	.		0.562	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	Missense_Mutation	A	111229514	G	A	111229514	5	1	5	1	0	0	0	0	0	0	1	0	12309	1101	38	1	640	1	POU2AF1	11	111229514	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	16951452	111229514	23777002	359	820											
HTR3A	3359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	113860305	113860305	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggtgtgtgggctgctGcaggagctgtcctccatccg	16	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:113860305G>T	ENST00000504030.2	+	9	1702	c.1257G>T	c.(1255-1257)ctG>ctT	p.L419L	HTR3A_ENST00000535865.1_Silent_p.L163L|HTR3A_ENST00000355556.2_Silent_p.L457L|HTR3A_ENST00000299961.5_Silent_p.L404L|HTR3A_ENST00000506841.2_Silent_p.L451L|HTR3A_ENST00000375498.2_Silent_p.L425L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	419	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GTGGGCTGCTGCAGGAGCTGT	0.662																																					p.L457L		.											.	HTR3A-90	0			c.G1371T						.						63	68	66					11																	113860305		2201	4296	6497	SO:0001819	synonymous_variant	3359	exon8			GCTGCTGCAGGAG	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1257G>T	11.37:g.113860305G>T		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	49	5	NM_213621	0	0	0	0	0	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37																																																																																				.		0.662	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		T	113860305	G	T	113860305	2	4	5	1	0	0	0	0	0	0	0	1	7471	1306	46	3		3	HTR3A	11	113860305	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2630791	113860305	21146211	360	821											
FAM55D	54827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	114453402	114453402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagcacctgccatcagCgctggggaagacatcctggc	12	14	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:114453402C>T	ENST00000375478.3	-	3	618	c.438G>A	c.(436-438)gcG>gcA	p.A146A	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	146						extracellular vesicular exosome (GO:0070062)											CTGCCATCAGCGCTGGGGAAG	0.592																																					p.A146A		.											.	.	0			c.G438A						.						69	75	73					11																	114453402		2201	4296	6497	SO:0001819	synonymous_variant	54827	exon3			CATCAGCGCTGGG	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.438G>A	11.37:g.114453402C>T		Somatic	298	0		WXS	Illumina GAIIx	Phase_I	237	115	NM_001077639	0	0	0	0	0	Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																			.		0.592	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		T	114453402	C	T	114453402	2	4	5	1	0	0	0	0	0	0	0	1	5609	755	27	1		1	FAM55D	11	114453402	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	593097	114453402	20553114	361	822											
TMPRSS4	56649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	117984057	117984057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttcccatccctggctGtggccaagatcatcatcatt	8	14	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:117984057G>A	ENST00000437212.3	+	9	1031	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.V233M|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.V126M|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.V271M|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.V268M|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	273	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ATCCCTGGCTGTGGCCAAGAT	0.527																																					p.V273M		.											.	TMPRSS4-90	0			c.G817A						.						180	159	166					11																	117984057		2200	4296	6496	SO:0001583	missense	56649	exon9			CTGGCTGTGGCCA	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.817G>A	11.37:g.117984057G>A	ENSP00000416037:p.Val273Met	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	174	10	NM_019894	0	0	0	0	0	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306893	0.60305	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.21	4.26	0.50523	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.121540	0.36444	N	0.002595	D	0.85864	0.5796	H	0.95114	3.625	0.54753	D	0.999985	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.998	D;D;D;D;D	0.81914	0.989;0.98;0.991;0.995;0.97	D	0.89511	0.3771	10	0.87932	D	0	.	13.0626	0.59015	0.0:0.1608:0.8392:0.0	.	248;233;126;273;271	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	M	271;126;233;273;268	ENSP00000435184:V271M;ENSP00000428814:V126M;ENSP00000429209:V233M;ENSP00000416037:V273M;ENSP00000430547:V268M	ENSP00000416037:V273M	V	+	1	0	TMPRSS4	117489267	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	5.612000	0.67681	2.424000	0.82194	0.655000	0.94253	GTG	.		0.527	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117984057	G	A	117984057	3	1	5	1	0	0	0	0	1	0	0	0	16296	1377	48	3	851	3	TMPRSS4	11	117984057	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3530655	117984057	17022459	362	823											
PHLDB1	23187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118495742	118495742	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgattccagcagggggcCgagcccctgggcccccctac	13	17	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118495742C>T	ENST00000361417.2	+	6	859	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.R150*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	150										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)		AGCAGGGGGCCGAGCCCCTGG	0.617																																					p.R150X		.											.	PHLDB1-90	0			c.C448T						.						82	80	81					11																	118495742		2200	4295	6495	SO:0001587	stop_gained	23187	exon5			GGGGGCCGAGCCC		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.448C>T	11.37:g.118495742C>T	ENSP00000354498:p.Arg150*	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	58	24	NM_001144758	0	0	1	1	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	38	7.077142	0.98048	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	.	.	.	5.64	4.64	0.57946	.	0.627003	0.15913	N	0.238493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.9686	15.5758	0.76380	0.2065:0.7934:0.0:0.0	.	.	.	.	X	150	.	ENSP00000348359:R150X	R	+	1	2	PHLDB1	118000952	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	1.186000	0.32078	2.643000	0.89663	0.561000	0.74099	CGA	.		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118495742	C	T	118495742	4	4	5	1	0	0	0	0	0	1	0	0	11890	644	23	1	462	1	PHLDB1	11	118495742	Nonsense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	511685	118495742	16510774	363	824											
DDX6	1656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118635947	118635947	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctcattatgtcatctcGtaaattggttcctcctgtgg	8	10	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118635947G>A	ENST00000526070.2	-	6	976	c.616C>T	c.(616-618)Cga>Tga	p.R206*	DDX6_ENST00000534980.1_Nonsense_Mutation_p.R206*|DDX6_ENST00000264018.4_Nonsense_Mutation_p.R206*	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGTCATCTCGTAAATTGGTT	0.398			T	IGH@	B-NHL																																p.R206X		.		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	DDX6-659	0			c.C616T						.						352	342	345					11																	118635947		1888	4110	5998	SO:0001587	stop_gained	1656	exon6			CATCTCGTAAATT	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.616C>T	11.37:g.118635947G>A	ENSP00000433704:p.Arg206*	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	91	36	NM_004397	0	0	1	2	1	Q5D048	Nonsense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	G	39	7.621654	0.98393	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	.	.	.	5.7	4.77	0.60923	.	0.049056	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.363	0.60667	0.0:0.0:0.7135:0.2865	.	.	.	.	X	206	.	ENSP00000264018:R206X	R	-	1	2	DDX6	118141157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.473000	0.66774	1.365000	0.46057	0.644000	0.83932	CGA	.		0.398	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		A	118635947	G	A	118635947	4	1	5	1	0	0	0	0	0	1	0	0	4386	1153	40	1	867	1	DDX6	11	118635947	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	140205	118635947	16370569	364	825											
CXCR5	643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118764716	118764716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggccattgtccacgccGtccatgcctaccgccaccgc	8	20	0	0	rs377218103		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:118764716G>A	ENST00000292174.4	+	2	639	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	155					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGTCCACGCCGTCCATGCCTA	0.607																																					p.V155I		.											.	CXCR5-721	0			c.G463A						.	G	ILE/VAL,ILE/VAL	0,4400		0,0,2200	63	52	55		463,328	4	0.7	11		55	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense	CXCR5	NM_001716.4,NM_032966.2	29,29	0,2,6493	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	155/373,110/328	118764716	2,12988	2200	4295	6495	SO:0001583	missense	643	exon2			CACGCCGTCCATG	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.463G>A	11.37:g.118764716G>A	ENSP00000292174:p.Val155Ile	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	125	62	NM_001716	0	0	0	0	0	Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	G	0.665	-0.804206	0.02819	0.0	2.33E-4	ENSG00000160683	ENST00000292174	T	0.36699	1.24	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.139426	0.46758	D	0.000268	T	0.20981	0.0505	L	0.31371	0.925	0.80722	D	1	B	0.33528	0.416	B	0.29267	0.1	T	0.10268	-1.0637	10	0.59425	D	0.04	.	3.7777	0.08667	0.2055:0.2233:0.5713:0.0	.	155	P32302	CXCR5_HUMAN	I	155	ENSP00000292174:V155I	ENSP00000292174:V155I	V	+	1	0	CXCR5	118269926	0.995000	0.38212	0.731000	0.30826	0.042000	0.13812	2.808000	0.47963	2.029000	0.59856	0.313000	0.20887	GTC	.		0.607	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		A	118764716	G	A	118764716	3	1	5	1	0	0	0	0	1	0	0	0	4103	1145	40	1	469	1	CXCR5	11	118764716	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	128769	118764716	16241800	365	826											
POU2F3	25833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	120175859	120175859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgatgagcccagtgacctcGaggagctggagaagtttgcc	14	11	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:120175859G>A	ENST00000543440.2	+	7	715	c.565G>A	c.(565-567)Gag>Aag	p.E189K	POU2F3_ENST00000260264.4_Missense_Mutation_p.E191K	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	189	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CAGTGACCTCGAGGAGCTGGA	0.552																																					p.E191K		.											.	POU2F3-92	0			c.G571A						.						86	90	88					11																	120175859		2203	4299	6502	SO:0001583	missense	25833	exon7			GACCTCGAGGAGC	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.565G>A	11.37:g.120175859G>A	ENSP00000441687:p.Glu189Lys	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_001244682	0	0	0	0	0	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768202	0.90020	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620	D;D;D	0.83335	-1.71;-1.71;-1.71	6.17	6.17	0.99709	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.86432	0.1761	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	143;189	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	K	191;189;143	ENSP00000441687:E191K;ENSP00000260264:E189K;ENSP00000435738:E143K	ENSP00000260264:E189K	E	+	1	0	POU2F3	119681069	1.000000	0.71417	0.988000	0.46212	0.216000	0.24613	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	.		0.552	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			A	120175859	G	A	120175859	3	1	5	1	0	0	0	0	1	0	0	0	12312	1059	37	1	591	1	POU2F3	11	120175859	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1411143	120175859	14830657	366	827											
GRAMD1B	57476	broad.mit.edu	37	chr11	123483504	123483504	+	Frame_Shift_Del	DEL	G	G	-													gcgctatcgaaaacagccctGggggttagtgaaaacgttca							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:123483504delG	ENST00000529750.1	+	14	1853	c.1526delG	c.(1525-1527)tggfs	p.W509fs	GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.W509fs|GRAMD1B_ENST00000450171.2_Frame_Shift_Del_p.W200fs|GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.W516fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	509						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AAACAGCCCTGGGGGTTAGTG	0.552																																					p.W509fs		.											.	GRAMD1B-69	0			c.1526delG						.						47	48	48					11																	123483504		1913	4129	6042	SO:0001589	frameshift_variant	57476	exon14			AGCCCTGGGGGTT	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1526delG	11.37:g.123483504delG	ENSP00000436500:p.Trp509fs	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	118	10	NM_020716	0	0	0	0	0	Q6UW85|Q9ULL9	Frame_Shift_Del	DEL	ENST00000529750.1	37	CCDS53720.1																																																																																			.		0.552	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		-	123483504	G	-	123483504	7	5	5	1	0	1	0	1	0	0	0	0	6775	1357	47	0	1580	0	GRAMD1B	11	123483504	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	3307645	123483504	11523012	367	828											
VWA5A	4013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	123993793	123993793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtatgcagagccccaTgagtagccaggatacatctc	12	10	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:123993793T>C	ENST00000456829.2	+	8	1138	c.887T>C	c.(886-888)aTg>aCg	p.M296T	VWA5A_ENST00000392744.4_Missense_Mutation_p.M312T|VWA5A_ENST00000449321.1_Missense_Mutation_p.M296T|VWA5A_ENST00000361352.5_Missense_Mutation_p.M296T|VWA5A_ENST00000360334.4_Missense_Mutation_p.M296T|VWA5A_ENST00000392748.1_Missense_Mutation_p.M296T	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	296	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAGAGCCCCATGAGTAGCCAG	0.463																																					p.M296T		.											.	VWA5A-92	0			c.T887C						.						76	68	71					11																	123993793		2201	4299	6500	SO:0001583	missense	4013	exon7			GCCCCATGAGTAG	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.887T>C	11.37:g.123993793T>C	ENSP00000407726:p.Met296Thr	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	36	34	NM_014622	0	0	0	2	2	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235837	0.39498	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.96	5.96	0.96718	von Willebrand factor, type A (3);	0.458728	0.24988	N	0.034016	T	0.15089	0.0364	M	0.76838	2.35	0.24107	N	0.995851	B;B	0.24258	0.1;0.1	B;B	0.32090	0.06;0.14	T	0.25433	-1.0132	10	0.16420	T	0.52	-21.3325	14.3766	0.66881	0.0:0.0:0.0:1.0	.	312;296	B4DHS6;O00534	.;VMA5A_HUMAN	T	296;296;296;296;296;312	ENSP00000407726:M296T;ENSP00000353485:M296T;ENSP00000376504:M296T;ENSP00000355070:M296T;ENSP00000404683:M296T;ENSP00000376501:M312T	ENSP00000353485:M296T	M	+	2	0	VWA5A	123499003	0.920000	0.31207	0.037000	0.18230	0.049000	0.14656	2.234000	0.43035	2.283000	0.76528	0.533000	0.62120	ATG	.		0.463	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		C	123993793	T	C	123993793	3	2	5	1	0	0	0	0	1	0	0	0	17291	1464	51	4	909	4	VWA5A	11	123993793	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	510289	123993793	11012723	368	829											
OR8D2	283160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124189576	124189576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaaaataatgactgaccGtatgagacctacagaatgac	7	9	0	5	rs151287996		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:124189576G>A	ENST00000357438.2	-	1	608	c.518C>T	c.(517-519)aCg>aTg	p.T173M		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATGACTGACCGTATGAGACCT	0.438																																					p.T173M		.											.	OR8D2-113	0			c.C518T						.	G	MET/THR	1,4401	2.1+/-5.4	0,1,2200	109	100	103		518	-7.3	0	11	dbSNP_134	103	0,8598		0,0,4299	no	missense	OR8D2	NM_001002918.1	81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	173/312	124189576	1,12999	2201	4299	6500	SO:0001583	missense	283160	exon1			CTGACCGTATGAG	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.518C>T	11.37:g.124189576G>A	ENSP00000350022:p.Thr173Met	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	74	62	NM_001002918	0	0	0	0	0	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	14.73	2.623695	0.46840	2.27E-4	0.0	ENSG00000197263	ENST00000357438	T	0.00107	8.72	3.73	-7.26	0.01466	GPCR, rhodopsin-like superfamily (1);	0.795153	0.10883	N	0.623622	T	0.00073	0.0002	L	0.31804	0.96	0.09310	N	1	P	0.41524	0.753	B	0.36418	0.224	T	0.32640	-0.9899	10	0.66056	D	0.02	.	8.19	0.31363	0.4438:0.1166:0.4396:0.0	.	173	Q9GZM6	OR8D2_HUMAN	M	173	ENSP00000350022:T173M	ENSP00000350022:T173M	T	-	2	0	OR8D2	123694786	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	-0.268000	0.08607	-1.460000	0.01911	-0.488000	0.04728	ACG	G|1.000;A|0.000		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		A	124189576	G	A	124189576	3	1	5	1	0	0	0	0	1	0	0	0	11271	1145	40	1	420	1	OR8D2	11	124189576	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	195783	124189576	10816940	369	830											
PKNOX2	63876	broad.mit.edu	37	chr11	125255595	125255595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacaaacccttcttcagcGatgacccagaactggacaat	7	13	2	2	rs373672970		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr11:125255595G>A	ENST00000298282.9	+	6	647	c.376G>A	c.(376-378)Gat>Aat	p.D126N	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D62N|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	126					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CTTCTTCAGCGATGACCCAGA	0.542																																					p.D126N		.											.	PKNOX2-93	0			c.G376A						.	G	ASN/ASP	0,4048		0,0,2024	96	95	96		376	5.5	1	11		96	1,8397		0,1,4198	no	missense	PKNOX2	NM_022062.2	23	0,1,6222	AA,AG,GG		0.0119,0.0,0.0080	benign	126/473	125255595	1,12445	2024	4199	6223	SO:0001583	missense	63876	exon6			TTCAGCGATGACC	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.376G>A	11.37:g.125255595G>A	ENSP00000298282:p.Asp126Asn	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	144	4	NM_022062	0	0	0	0	0	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574148	0.65878	0.0	1.19E-4	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.51	5.51	0.81932	.	0.098166	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05351	-0.065	0.80722	D	1	B;B	0.27229	0.172;0.02	B;B	0.27170	0.077;0.006	T	0.09015	-1.0694	10	0.18276	T	0.48	-14.5534	19.4198	0.94716	0.0:0.0:1.0:0.0	.	62;126	F5GZ15;Q96KN3	.;PKNX2_HUMAN	N	97;97;126;62;114	ENSP00000434732:D97N;ENSP00000433971:D97N;ENSP00000298282:D126N;ENSP00000441470:D62N	ENSP00000298282:D126N	D	+	1	0	PKNOX2	124760805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GAT	.		0.542	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			A	125255595	G	A	125255595	3	1	5	1	0	0	0	0	1	0	0	0	12022	1058	37	1	386	1	PKNOX2	11	125255595	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1066019	125255595	9750921	370	831											
WNT5B	81029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	1742040	1742040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcagcacagcggacaaCgcatctgtctttgggagagt	12	9	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:1742040C>T	ENST00000397196.2	+	3	529	c.297C>T	c.(295-297)aaC>aaT	p.N99N	WNT5B_ENST00000310594.3_Silent_p.N99N|WNT5B_ENST00000542408.1_Silent_p.N99N|WNT5B_ENST00000537031.1_Silent_p.N99N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	99					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|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 binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CAGCGGACAACGCATCTGTCT	0.557																																					p.N99N		.											.	WNT5B-562	0			c.C297T						.						62	63	62					12																	1742040		2203	4300	6503	SO:0001819	synonymous_variant	81029	exon3			GGACAACGCATCT	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.297C>T	12.37:g.1742040C>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	154	34	NM_032642	0	0	0	0	0	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	CCDS8510.1																																																																																			.		0.557	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			T	1742040	C	T	1742040	2	4	5	1	0	0	0	0	0	0	0	1	17441	535	19	1		1	WNT5B	12	1742040	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		1742040	132109855	371	832											
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	1988971	1988971	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagcggccactcaccGtttcgttcttcttgctgaag	10	13	3	1	rs376351407		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:1988971G>A	ENST00000382722.5	-	14	1924	c.1562C>T	c.(1561-1563)aCg>aTg	p.T521M	CACNA2D4_ENST00000588077.1_Splice_Site_p.T457M|CACNA2D4_ENST00000585732.1_Splice_Site_p.T406M|CACNA2D4_ENST00000587995.1_Splice_Site_p.T521M|CACNA2D4_ENST00000586184.1_Splice_Site_p.T521M|CACNA2D4_ENST00000585708.1_Splice_Site_p.T457M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	521	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)		GCCACTCACCGTTTCGTTCTT	0.567																																					p.T521M	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C1562T						.	G	MET/THR	4,4070		0,4,2033	45	50	48		1562	4.9	0.3	12		48	0,8336		0,0,4168	no	missense-near-splice	CACNA2D4	NM_172364.4	81	0,4,6201	AA,AG,GG		0.0,0.0982,0.0322	probably-damaging	521/1138	1988971	4,12406	2037	4168	6205	SO:0001630	splice_region_variant	93589	exon14			CTCACCGTTTCGT	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.1563+1C>T	12.37:g.1988971G>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	151	10	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701850	0.96812	9.82E-4	0.0	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08896	3.04	4.86	4.86	0.63082	Cache (1);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.97110	0.889;1.0	T	0.03524	-1.1028	10	0.87932	D	0	.	18.36	0.90372	0.0:0.0:1.0:0.0	.	521;521	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	457;521;521	ENSP00000372169:T521M	ENSP00000280663:T521M	T	-	2	0	CACNA2D4	1859232	1.000000	0.71417	0.267000	0.24556	0.809000	0.45718	9.784000	0.99039	2.381000	0.81170	0.563000	0.77884	ACG	.		0.567	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		Missense_Mutation	A	1988971	G	A	1988971	5	1	5	1	0	0	0	0	0	0	1	0	2558	1159	40	1	1951	1	CACNA2D4	12	1988971	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	246931	1988971	131862924	372	833											
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2019113	2019113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggttcaggtcggcctcctCggcagcttccaccagattct	11	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:2019113C>T	ENST00000382722.5	-	4	807	c.445G>A	c.(445-447)Gag>Aag	p.E149K	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E85K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E149K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E149K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E149K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E85K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	149					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)		TCGGCCTCCTCGGCAGCTTCC	0.562																																					p.E149K	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.G445A						.						46	50	49					12																	2019113		1925	4132	6057	SO:0001583	missense	93589	exon4			CCTCCTCGGCAGC	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.445G>A	12.37:g.2019113C>T	ENSP00000372169:p.Glu149Lys	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	118	60	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243808	0.79912	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.19938	2.11	5.54	5.54	0.83059	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.91612	3.225	0.35161	D	0.770692	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.948	T	0.73369	-0.4004	10	0.87932	D	0	.	17.2729	0.87107	0.0:1.0:0.0:0.0	.	149;149	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	K	85;149;149	ENSP00000372169:E149K	ENSP00000280663:E149K	E	-	1	0	CACNA2D4	1889374	1.000000	0.71417	0.983000	0.44433	0.351000	0.29236	6.684000	0.74538	2.604000	0.88044	0.561000	0.74099	GAG	.		0.562	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	2019113	C	T	2019113	3	4	5	1	0	0	0	0	1	0	0	0	2558	893	31	1	3108	1	CACNA2D4	12	2019113	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	30142	2019113	131832782	373	834											
TSPAN9	10867	bcgsc.ca	37	chr12	3390495	3390495	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgcctttgtggagaacGgtgaggctggggatggaccg	17	9	0	2	rs371384336		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:3390495G>A	ENST00000011898.5	+	7	725	c.564G>A	c.(562-564)acG>acA	p.T188T	TSPAN9_ENST00000407263.1_Splice_Site_p.T188T|TSPAN9_ENST00000537971.1_Splice_Site_p.T188T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	188						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGTGGAGAACGGTGAGGCTGG	0.667																																					p.T188T		.											.	TSPAN9-91	0			c.G564A						.						21	17	19					12																	3390495		2038	3868	5906	SO:0001630	splice_region_variant	10867	exon7			GAGAACGGTGAGG	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.564+1G>A	12.37:g.3390495G>A		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	129	6	NM_006675	0	0	0	0	0	D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	CCDS8520.1																																																																																			.		0.667	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	Silent	A	3390495	G	A	3390495	5	1	5	1	0	0	0	0	0	0	1	0	16702	1130	39	1	582	1	TSPAN9	12	3390495	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1371382	3390495	130461400	374	835											
ANO2	57101	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	5724430	5724430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctttgaggatcaggCgctcttcaaaagtctgttct	10	8	5	2	rs373395051		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:5724430C>T	ENST00000356134.5	-	19	1924	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	ANO2_ENST00000327087.8_Missense_Mutation_p.R617H|ANO2_ENST00000546188.1_Missense_Mutation_p.R618H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	622					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAGGATCAGGCGCTCTTCAAA	0.458																																					p.R617H		.											.	ANO2-139	0			c.G1850A						.	C	HIS/ARG	0,3922		0,0,1961	78	77	77		1850	4.6	1	12		77	1,8335		0,1,4167	no	missense	ANO2	NM_020373.2	29	0,1,6128	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	617/999	5724430	1,12257	1961	4168	6129	SO:0001583	missense	57101	exon18			ATCAGGCGCTCTT	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1853G>A	12.37:g.5724430C>T	ENSP00000348453:p.Arg618His	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	187	34	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.904485	0.92035	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.64	4.64	0.57946	.	0.102645	0.64402	D	0.000004	T	0.55784	0.1942	N	0.25957	0.775	0.80722	D	1	D	0.53745	0.962	P	0.47044	0.535	T	0.60449	-0.7261	10	0.52906	T	0.07	.	15.4309	0.75099	0.0:1.0:0.0:0.0	.	617	Q9NQ90-3	.	H	617;618;618;622;177	ENSP00000314048:R617H;ENSP00000348453:R618H;ENSP00000440981:R618H;ENSP00000443813:R177H	ENSP00000314048:R617H	R	-	2	0	ANO2	5594691	0.971000	0.33674	1.000000	0.80357	0.990000	0.78478	7.400000	0.79949	2.578000	0.87016	0.650000	0.86243	CGC	.		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		T	5724430	C	T	5724430	3	4	5	1	0	0	0	0	1	0	0	0	697	768	27	1	1182	1	ANO2	12	5724430	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2333935	5724430	128127465	375	836											
GPR162	27239	hgsc.bcm.edu;broad.mit.edu	37	chr12	6934685	6934685	+	Frame_Shift_Del	DEL	C	C	-													ccctcaagtcggactcggcgCccccctggatggtgctggct							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:6934685delC	ENST00000311268.3	+	3	1691	c.904delC	c.(904-906)cccfs	p.P303fs	LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000428545.2_Frame_Shift_Del_p.P19fs|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000382315.3_5'UTR	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGACTCGGCGCCCCCCTGGAT	0.667											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P302fs		.											.	GPR162-92	0			c.904delC						.						34	30	31					12																	6934685		2203	4300	6503	SO:0001589	frameshift_variant	27239	exon3			TCGGCGCCCCCCT	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.904delC	12.37:g.6934685delC	ENSP00000311528:p.Pro303fs	Somatic	24	0	637	WXS	Illumina GAIIx	Phase_I	103	25	NM_019858	0	0	0	0	0	Q16664|Q59EH5|Q66K56	Frame_Shift_Del	DEL	ENST00000311268.3	37	CCDS8563.1																																																																																			.		0.667	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		-	6934685	C	-	6934685	7	5	5	1	0	1	0	1	0	0	0	0	6692	739	26	0	929	0	GPR162	12	6934685	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	1210255	6934685	126917210	376	837											
C1R	715	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	7187965	7187965	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacccagcgatcagtgttCgggtcccttactgcaaaaac	9	14	1	0	rs147540938		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:7187965C>T	ENST00000542285.1	-	11	1982	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P				P00736	C1R_HUMAN	complement component 1, r subcomponent	663	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATCAGTGTTCGGGTCCCTTA	0.572													C|||	2	0.000399361	0.0015	0	5008	,	,		-128	0		0	False		,,,				2504	0				.		.											.	.	0			.						.	C		1,4175		0,1,2087	62	68	66		718	-8	0	12	dbSNP_134	66	0,8492		0,0,4246	no	coding-notMod3	C1R	NM_001733.4.dup		0,1,6333	TT,TC,CC		0.0,0.0239,0.0079			7187965	1,12667	2088	4246	6334	SO:0001819	synonymous_variant	715	.			AGTGTTCGGGTCC	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1833G>A	12.37:g.7187965C>T		Somatic	157	0		WXS	Illumina GAIIx	Phase_I	203	52	.	0	0	701	979	278	A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37																																																																																				C|0.999;T|0.001		0.572	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		T	7187965	C	T	7187965	2	4	5	1	0	0	0	0	0	0	0	1	1979	871	31	1		1	C1R	12	7187965	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	253280	7187965	126663930	377	838											
CLEC4A	50856	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	8290774	8290774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagtgatcccaatgagcGctgcgttgtgctaaattttc	10	11	0	2	rs200191238		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:8290774G>A	ENST00000229332.5	+	6	852	c.605G>A	c.(604-606)cGc>cAc	p.R202H	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R202H(2)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CCCAATGAGCGCTGCGTTGTG	0.443													g|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0				p.R202H		.											.	CLEC4A-90	2	Substitution - Missense(2)	prostate(1)|endometrium(1)	c.G605A						.						137	117	124					12																	8290774		2203	4300	6503	SO:0001583	missense	50856	exon6			ATGAGCGCTGCGT	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.605G>A	12.37:g.8290774G>A	ENSP00000229332:p.Arg202His	Somatic	266	0		WXS	Illumina GAIIx	Phase_I	338	21	NM_016184	0	0	3	3	0	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.463	1.093570	0.20471	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.98	-3.8	0.04307	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.09335	0.0230	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.25441	0.103;0.103;0.103;0.126	B;B;B;B	0.21708	0.021;0.021;0.021;0.036	T	0.31223	-0.9951	10	0.52906	T	0.07	.	5.4251	0.16421	0.6073:0.0:0.2394:0.1533	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	202;130;169;163	ENSP00000229332:R202H;ENSP00000344646:R130H;ENSP00000247243:R169H;ENSP00000353690:R163H	ENSP00000229332:R202H	R	+	2	0	CLEC4A	8182041	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.564000	0.02152	-0.812000	0.04363	0.585000	0.79938	CGC	G|0.999;A|0.000		0.443	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		A	8290774	G	A	8290774	3	1	5	1	0	0	0	0	1	0	0	0	3519	1087	38	1	627	1	CLEC4A	12	8290774	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1102809	8290774	125561121	378	839											
DDX11	1663	broad.mit.edu;bcgsc.ca	37	chr12	31254784	31254784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatggacgaggtgggtcgCattctctgtaacctgtgcgg	15	8	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:31254784C>T	ENST00000407793.2	+	21	2321	c.2070C>T	c.(2068-2070)cgC>cgT	p.R690R	DDX11_ENST00000228264.6_Silent_p.R664R|DDX11_ENST00000545668.1_Silent_p.R690R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Silent_p.R690R	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	690					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)					AGGTGGGTCGCATTCTCTGTA	0.602										Multiple Myeloma(12;0.14)																											p.R690R		.											.	DDX11-229	0			c.C2070T						.						151	149	150					12																	31254784		1946	4130	6076	SO:0001819	synonymous_variant	1663	exon21			GGGTCGCATTCTC	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.2070C>T	12.37:g.31254784C>T		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	269	10	NM_030653	0	0	12	12	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																			.		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		T	31254784	C	T	31254784	2	4	5	1	0	0	0	0	0	0	0	1	4352	697	25	3		3	DDX11	12	31254784	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	22964010	31254784	102597111	379	840											
SLC2A13	114134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	40422282	40422282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaaaaactgtataaccGccggaactgctgcaagtccc	8	13	0	0	rs200980396		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:40422282G>A	ENST00000280871.4	-	3	796	c.746C>T	c.(745-747)gCg>gTg	p.A249V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A249V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	249					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTGTATAACCGCCGGAACTGC	0.413										HNSCC(50;0.14)																											p.A249V		.											.	SLC2A13-515	0			c.C746T						.						80	80	80					12																	40422282		2203	4300	6503	SO:0001583	missense	114134	exon3			ATAACCGCCGGAA	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.746C>T	12.37:g.40422282G>A	ENSP00000280871:p.Ala249Val	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	42	26	NM_052885	0	0	0	0	0	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538604	0.85917	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.78595	-1.19;-1.19	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.099066	0.64402	D	0.000001	D	0.90978	0.7163	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.937	D	0.92046	0.5644	10	0.66056	D	0.02	-18.5215	19.8499	0.96734	0.0:0.0:1.0:0.0	.	249;249	Q96QE2;E9PE47	MYCT_HUMAN;.	V	249	ENSP00000280871:A249V;ENSP00000370239:A249V	ENSP00000280871:A249V	A	-	2	0	SLC2A13	38708549	1.000000	0.71417	0.982000	0.44146	0.502000	0.33828	9.217000	0.95160	2.779000	0.95612	0.591000	0.81541	GCG	.		0.413	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			A	40422282	G	A	40422282	3	1	5	1	0	0	0	0	1	0	0	0	14587	1087	38	1	1232	1	SLC2A13	12	40422282	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9167498	40422282	93429613	380	841											
VDR	7421	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	48249477	48249477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaactgaccaggtcagCcaggtggggcagcatggaga	16	9	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:48249477C>T	ENST00000395324.2	-	7	959	c.691G>A	c.(691-693)Gct>Act	p.A231T	VDR_ENST00000549336.1_Missense_Mutation_p.A231T|VDR_ENST00000550325.1_Missense_Mutation_p.A281T|VDR_ENST00000229022.3_Missense_Mutation_p.A231T|VDR_ENST00000535672.1_Missense_Mutation_p.A199T			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	231	Ligand-binding.|Vitamin D3 binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|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 vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACCAGGTCAGCCAGGTGGGGC	0.502																																					p.A281T		.											.	VDR-188	0			c.G841A						.						78	72	74					12																	48249477		2203	4300	6503	SO:0001583	missense	7421	exon7			GGTCAGCCAGGTG	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.691G>A	12.37:g.48249477C>T	ENSP00000378734:p.Ala231Thr	Somatic	299	0		WXS	Illumina GAIIx	Phase_I	454	223	NM_001017536	0	0	0	0	0	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745486	0.89663	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.31	4.42	0.53409	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.168232	0.50627	D	0.000101	D	0.92577	0.7642	L	0.35341	1.055	0.58432	D	0.999995	P;P;P	0.48350	0.868;0.742;0.909	P;P;P	0.57283	0.817;0.732;0.58	D	0.89346	0.3657	10	0.02654	T	1	.	11.8586	0.52453	0.0:0.9145:0.0:0.0855	.	199;231;281	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	T	231;231;231;281;199;231	ENSP00000378734:A231T;ENSP00000229022:A231T;ENSP00000449573:A231T;ENSP00000447173:A281T;ENSP00000442145:A199T;ENSP00000448659:A231T	ENSP00000229022:A231T	A	-	1	0	VDR	46535744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.993000	0.70616	1.235000	0.43724	0.486000	0.48141	GCT	.		0.502	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			T	48249477	C	T	48249477	3	4	5	1	0	0	0	0	1	0	0	0	17198	739	26	3	608	3	VDR	12	48249477	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	7827195	48249477	85602418	381	842											
OR8S1	341568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	48921823	48921823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgagcattccggtcacGcctcaaccccaaggggcctg	12	15	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:48921823G>A	ENST00000310194.1	+	2	1017	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	339						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T339T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCCGGTCACGCCTCAACCCC	0.662																																					p.T339T		.											.	OR8S1-69	1	Substitution - coding silent(1)	endometrium(1)	c.G1017A						.						17	19	18					12																	48921823		2203	4300	6503	SO:0001819	synonymous_variant	341568	exon2			GGTCACGCCTCAA		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1017G>A	12.37:g.48921823G>A		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	60	31	NM_001005203	0	0	0	0	0		Silent	SNP	ENST00000310194.1	37	CCDS31789.1																																																																																			.		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			A	48921823	G	A	48921823	2	1	5	1	0	0	0	0	0	0	0	1	11285	1074	38	1		1	OR8S1	12	48921823	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	672346	48921823	84930072	382	843											
WNT1	7471	hgsc.bcm.edu	37	chr12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-													cgggggccccgactggcactGggggggctgcagcgacaaca							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49374348delG	ENST00000293549.3	+	3	536	c.500delG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.682																																					p.W167fs		.											.	WNT1-1083	1	Deletion - Frameshift(1)	large_intestine(1)	c.500delG						.						9	11	11					12																	49374348		2195	4281	6476	SO:0001589	frameshift_variant	7471	exon3			GGCACTGGGGGGG	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.500delG	12.37:g.49374348delG	ENSP00000293549:p.Trp167fs	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	110	33	NM_005430	0	0	0	0	0	Q5U0N2	Frame_Shift_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																			.		0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49374348	G	-	49374348	7	5	5	1	0	1	0	1	0	0	0	0	17430	1357	47	0	510	0	WNT1	12	49374348	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	452525	49374348	84477547	383	844											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-													aaggtgccaaagcctgggcaGggggtggctcctggggcctt					rs572022239	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49434492delG	ENST00000301067.7	-	31	7060	c.7061delC	c.(7060-7062)cctfs	p.P2354fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2354	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P2084fs*30(1)									AGCCTGGGCAGGGGGTGGCTC	0.622																																					p.P2354fs		.											.	MLL2-612	1	Deletion - Frameshift(1)	large_intestine(1)	c.7061delC						.						25	31	29					12																	49434492		1901	4079	5980	SO:0001589	frameshift_variant	8085	exon31			TGGGCAGGGGGTG	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.7061delC	12.37:g.49434492delG	ENSP00000301067:p.Pro2354fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	109	52	NM_003482	0	0	0	0	0	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49434492	G	-	49434492	7	5	5	1	0	1	0	1	0	0	0	0	9659	1000	35	0	9648	0	MLL2	12	49434492	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	60144	49434492	84417403	384	845											
KCNH3	23416	hgsc.bcm.edu	37	chr12	49943990	49943990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtctctggccctgcGgcccgccttctgcacgccgg	13	18	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:49943990G>A	ENST00000257981.6	+	10	2056	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	599					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCTGCGGCCCGCCTTC	0.667																																					p.R599Q		.											.	KCNH3-90	0			c.G1796A						.						39	38	38					12																	49943990		2203	4300	6503	SO:0001583	missense	23416	exon10			CCCTGCGGCCCGC	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.1796G>A	12.37:g.49943990G>A	ENSP00000257981:p.Arg599Gln	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	68	21	NM_012284	0	0	9	9	0	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666456	0.88251	.	.	ENSG00000135519	ENST00000257981	D	0.96554	-4.05	5.48	5.48	0.80851	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.44483	D	0.000455	D	0.92100	0.7496	N	0.26042	0.785	0.37131	D	0.901269	B	0.19073	0.033	B	0.24848	0.056	D	0.88959	0.3392	10	0.33940	T	0.23	.	10.6386	0.45579	0.0875:0.0:0.9125:0.0	.	599	Q9ULD8	KCNH3_HUMAN	Q	599	ENSP00000257981:R599Q	ENSP00000257981:R599Q	R	+	2	0	KCNH3	48230257	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.199000	0.51043	2.755000	0.94549	0.655000	0.94253	CGG	.		0.667	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		A	49943990	G	A	49943990	3	1	5	1	0	0	0	0	1	0	0	0	8060	1116	39	1	1834	1	KCNH3	12	49943990	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	509498	49943990	83907905	385	846											
GPR84	53831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54757424	54757424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagggctgaaggagcGtgcagtagaggagatcagcc	17	7	1	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:54757424G>A	ENST00000551809.1	-	1	847	c.212C>T	c.(211-213)aCg>aTg	p.T71M	GPR84_ENST00000267015.3_Missense_Mutation_p.T71M|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGAAGGAGCGTGCAGTAGAG	0.577																																					p.T71M		.											.	GPR84-523	0			c.C212T						.						189	166	174					12																	54757424		2203	4300	6503	SO:0001583	missense	53831	exon2			AGGAGCGTGCAGT	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.212C>T	12.37:g.54757424G>A	ENSP00000450310:p.Thr71Met	Somatic	307	0		WXS	Illumina GAIIx	Phase_I	527	258	NM_020370	0	0	0	0	0	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647849	0.67358	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38722	1.12;1.12	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.45137	1.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.51076	-0.8751	10	0.36615	T	0.2	-23.9033	16.6417	0.85128	0.0:0.0:1.0:0.0	.	71	Q9NQS5	GPR84_HUMAN	M	71	ENSP00000267015:T71M;ENSP00000450310:T71M	ENSP00000267015:T71M	T	-	2	0	GPR84	53043691	0.999000	0.42202	0.953000	0.39169	0.517000	0.34286	4.705000	0.61838	2.602000	0.87976	0.555000	0.69702	ACG	.		0.577	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			A	54757424	G	A	54757424	3	1	5	1	0	0	0	0	1	0	0	0	6740	1145	40	1	982	1	GPR84	12	54757424	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4813434	54757424	79094471	386	847											
PA2G4	5036	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56504465	56504465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgttttgatgccatgccGtttactttaaggtactaagc	10	8	0	1	rs145895424		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:56504465G>A	ENST00000303305.6	+	9	1250	c.831G>A	c.(829-831)ccG>ccA	p.P277P	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	277					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)			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)			ATGCCATGCCGTTTACTTTAA	0.443																																					p.P277P		.											.	PA2G4-68	0			c.G831A						.	G		1,4405	2.1+/-5.4	0,1,2202	71	64	66		831	-8.5	1	12	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PA2G4	NM_006191.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		277/395	56504465	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5036	exon9			CATGCCGTTTACT	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.831G>A	12.37:g.56504465G>A		Somatic	120	1		WXS	Illumina GAIIx	Phase_I	162	79	NM_006191	0	0	2	2	0	O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																			G|1.000;A|0.000		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		A	56504465	G	A	56504465	2	1	5	1	0	0	0	0	0	0	0	1	11400	1132	40	1		1	PA2G4	12	56504465	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1747041	56504465	77347430	387	848											
MYO1A	4640	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccatttcaccttgcccGcatagtggcagatgcggaag	11	13	1	1	rs141039063		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577																																					p.A509V		.											.	MYO1A-231	0			c.C1526T						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	55	52	53		1526	4.6	1	12	dbSNP_134	53	0,8600		0,0,4300	no	missense	MYO1A	NM_005379.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/1044	57432600	1,13005	2203	4300	6503	SO:0001583	missense	4640	exon16			TTGCCCGCATAGT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1526C>T	12.37:g.57432600G>A	ENSP00000393392:p.Ala509Val	Somatic	170	2		WXS	Illumina GAIIx	Phase_I	289	65	NM_005379	0	0	0	0	0	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG	G|1.000;A|0.000		0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57432600	G	A	57432600	3	1	5	1	0	0	0	0	1	0	0	0	10106	1087	38	1	1657	1	MYO1A	12	57432600	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	928135	57432600	76419295	388	849											
SHMT2	6472	ucsc.edu;bcgsc.ca	37	chr12	57624758	57624758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggacaggcagtgtcGtggcctggagctcattgcct	16	9	1	1	rs376369904		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:57624758G>A	ENST00000328923.3	+	2	658	c.206G>A	c.(205-207)cGt>cAt	p.R69H	SHMT2_ENST00000553474.1_Missense_Mutation_p.R48H|SHMT2_ENST00000414700.3_Missense_Mutation_p.R48H|SHMT2_ENST00000557487.1_Missense_Mutation_p.R69H|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000393827.4_5'UTR|Y_RNA_ENST00000365197.1_RNA|SHMT2_ENST00000449049.3_Missense_Mutation_p.R48H	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	69					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGGCAGTGTCGTGGCCTGGAG	0.567																																					p.R69H	Esophageal Squamous(150;1369 2416 49071 49364)	.											.	SHMT2-91	0			c.G206A						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99	81	87		206,143,143,143,206	4.8	1	12		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHMT2	NM_005412.5,NM_001166359.1,NM_001166358.1,NM_001166357.1,NM_001166356.1	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	69/505,48/484,48/484,48/484,69/495	57624758	1,13005	2203	4300	6503	SO:0001583	missense	6472	exon2			AGTGTCGTGGCCT	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.206G>A	12.37:g.57624758G>A	ENSP00000333667:p.Arg69His	Somatic	397	4		WXS	Illumina GAIIx	Phase_I	565	277	NM_005412	0	0	3	3	0	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319211	0.60524	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	1.58;0.99;0.99;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	N	0.21617	0.685	0.80722	D	1	B;B	0.28350	0.064;0.208	B;B	0.28553	0.032;0.091	T	0.06698	-1.0812	10	0.11485	T	0.65	.	17.1828	0.86859	0.0:0.0:1.0:0.0	.	69;69	Q8N1A5;P34897	.;GLYM_HUMAN	H	69;69;69;48;48;48;48;48;48;48;48;48;48	ENSP00000333667:R69H;ENSP00000452315:R69H;ENSP00000452035:R69H;ENSP00000406881:R48H;ENSP00000450452:R48H;ENSP00000452161:R48H;ENSP00000450893:R48H;ENSP00000452045:R48H;ENSP00000452419:R48H;ENSP00000451968:R48H;ENSP00000452404:R48H;ENSP00000413770:R48H;ENSP00000451495:R48H	ENSP00000333667:R69H	R	+	2	0	SHMT2	55911025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.104000	0.64584	2.668000	0.90789	0.655000	0.94253	CGT	.		0.567	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		A	57624758	G	A	57624758	3	1	5	1	0	0	0	0	1	0	0	0	14331	1145	40	1	212	1	SHMT2	12	57624758	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	192158	57624758	76227137	389	850											
KCNC2	3747	ucsc.edu;bcgsc.ca	37	chr12	75444415	75444415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcactccagccagagcaCacagggctcccaccagcatg	9	17	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:75444415C>T	ENST00000549446.1	-	3	2050	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	KCNC2_ENST00000540018.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000550433.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.C457Y|KCNC2_ENST00000393288.2_Missense_Mutation_p.C457Y|KCNC2_ENST00000548513.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000298972.1_Missense_Mutation_p.C457Y|KCNC2_ENST00000350228.2_Missense_Mutation_p.C457Y	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	457					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)	AGCCAGAGCACACAGGGCTCC	0.507																																					p.C457Y		.											.	KCNC2-224	0			c.G1370A						.						73	67	69					12																	75444415		2203	4300	6503	SO:0001583	missense	3747	exon3			AGAGCACACAGGG	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.1370G>A	12.37:g.75444415C>T	ENSP00000449253:p.Cys457Tyr	Somatic	110	2		WXS	Illumina GAIIx	Phase_I	150	58	NM_139137	0	0	0	0	0	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028613	0.75390	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.96996	3.92	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;0.998	D	0.98490	1.0609	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	457;457;457;457;457	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	Y	457	ENSP00000448301:C457Y;ENSP00000449941:C457Y;ENSP00000449253:C457Y;ENSP00000340121:C457Y;ENSP00000298972:C457Y;ENSP00000319877:C457Y;ENSP00000438423:C457Y;ENSP00000376966:C457Y	ENSP00000298972:C457Y	C	-	2	0	KCNC2	73730682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	TGT	.		0.507	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		T	75444415	C	T	75444415	3	4	5	1	0	0	0	0	1	0	0	0	8042	478	17	3	624	3	KCNC2	12	75444415	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	17819657	75444415	58407480	390	851											
TMTC2	160335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	83290288	83290288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtcaaagtccaaaagcGgttcctcaagagcttgattt	8	8	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:83290288G>A	ENST00000321196.3	+	3	2053	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.R443Q|TMTC2_ENST00000548305.1_Missense_Mutation_p.R449Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	449					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						GTCCAAAAGCGGTTCCTCAAG	0.418																																					p.R449Q		.											.	TMTC2-92	0			c.G1346A						.						97	89	92					12																	83290288		2203	4300	6503	SO:0001583	missense	160335	exon3			AAAAGCGGTTCCT	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.1346G>A	12.37:g.83290288G>A	ENSP00000322300:p.Arg449Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	96	42	NM_152588	0	0	1	1	0	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153967	0.38021	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.63744	0.62;-0.06;0.53	5.86	4.98	0.66077	.	0.220980	0.45361	D	0.000367	T	0.55641	0.1933	M	0.71871	2.18	0.42989	D	0.994488	P;B;P	0.47106	0.716;0.132;0.89	B;B;B	0.36666	0.057;0.043;0.23	T	0.57751	-0.7757	10	0.27082	T	0.32	-11.8368	11.0357	0.47799	0.1411:0.0:0.8589:0.0	.	449;204;449	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	Q	449;449;443;204	ENSP00000322300:R449Q;ENSP00000448292:R449Q;ENSP00000447609:R443Q	ENSP00000322300:R449Q	R	+	2	0	TMTC2	81814419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.582000	0.67477	1.493000	0.48517	0.650000	0.86243	CGG	.		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		A	83290288	G	A	83290288	3	1	5	1	0	0	0	0	1	0	0	0	16308	1116	39	1	1356	1	TMTC2	12	83290288	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	7845873	83290288	50561607	391	852											
LRRIQ1	84125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	85554403	85554403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttagattccactgtgcGtctagccttattcaaaaaca	6	9	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:85554403G>A	ENST00000393217.2	+	24	4794	c.4733G>A	c.(4732-4734)cGt>cAt	p.R1578H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1578										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)		TCCACTGTGCGTCTAGCCTTA	0.358																																					p.R1578H		.											.	LRRIQ1-95	0			c.G4733A						.						122	111	114					12																	85554403		1824	4085	5909	SO:0001583	missense	84125	exon24			CTGTGCGTCTAGC	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.4733G>A	12.37:g.85554403G>A	ENSP00000376910:p.Arg1578His	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	108	42	NM_001079910	0	0	0	0	0	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765207	0.15914	.	.	ENSG00000133640	ENST00000393217	T	0.68765	-0.35	4.63	3.74	0.42951	.	.	.	.	.	T	0.66056	0.2751	L	0.27053	0.805	0.28089	N	0.931892	D	0.71674	0.998	P	0.54965	0.765	T	0.61417	-0.7067	9	0.87932	D	0	.	12.7313	0.57199	0.0807:0.0:0.9193:0.0	.	1578	Q96JM4	LRIQ1_HUMAN	H	1578	ENSP00000376910:R1578H	ENSP00000376910:R1578H	R	+	2	0	LRRIQ1	84078534	1.000000	0.71417	0.040000	0.18447	0.483000	0.33249	4.769000	0.62300	1.056000	0.40484	0.557000	0.71058	CGT	.		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		A	85554403	G	A	85554403	3	1	5	1	0	0	0	0	1	0	0	0	9064	1145	40	1	4827	1	LRRIQ1	12	85554403	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2264115	85554403	48297492	392	853											
SCYL2	55681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	100732792	100732792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggttctccaactatgGgcagttcagtaatggggaca	11	9	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:100732792G>T	ENST00000360820.2	+	18	3069	c.2632G>T	c.(2632-2634)Ggc>Tgc	p.G878C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	878	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCAACTATGGGCAGTTCAGT	0.448																																					p.G878C		.											.	SCYL2-336	0			c.G2632T						.						183	178	179					12																	100732792		2203	4300	6503	SO:0001583	missense	55681	exon18			ACTATGGGCAGTT	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2632G>T	12.37:g.100732792G>T	ENSP00000354061:p.Gly878Cys	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	266	22	NM_017988	0	0	36	40	4	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716545	0.48622	.	.	ENSG00000136021	ENST00000360820	T	0.30714	1.52	5.8	5.8	0.92144	.	0.184300	0.56097	D	0.000022	T	0.21509	0.0518	N	0.24115	0.695	0.36064	D	0.841647	D	0.57257	0.979	B	0.43360	0.417	T	0.13926	-1.0491	10	0.72032	D	0.01	-9.2487	7.9325	0.29909	0.1877:0.0:0.8123:0.0	.	878	Q6P3W7	SCYL2_HUMAN	C	878	ENSP00000354061:G878C	ENSP00000354061:G878C	G	+	1	0	SCYL2	99256923	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.260000	0.51523	2.902000	0.99343	0.650000	0.86243	GGC	.		0.448	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		T	100732792	G	T	100732792	3	4	5	1	0	0	0	0	1	0	0	0	13993	1232	43	3	2698	3	SCYL2	12	100732792	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	15178389	100732792	33119103	393	854											
BTBD11	121551	hgsc.bcm.edu	37	chr12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgcagtggccctgGgtcaggctcgggctccggcc	17	15	1	0	rs961498	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5	3	3		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		C	107713511	G	C	107713511	3	2	5	1	0	0	0	0	1	0	0	0	1543	1232	43	3	796	3	BTBD11	12	107713511	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6980719	107713511	26138384	394	855											
ACACB	32	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	109613959	109613959	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtcctttgcacccaggCagcagaaagaattggttttc	10	9	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:109613959C>T	ENST00000338432.7	+	9	1447	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	ACACB_ENST00000377854.5_Splice_Site_p.A443V|ACACB_ENST00000377848.3_Splice_Site_p.A443V|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	443	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCACCCAGGCAGCAGAAAGA	0.547																																					p.A443V		.											.	ACACB-98	0			c.C1328T						.						240	252	248					12																	109613959		2203	4300	6503	SO:0001630	splice_region_variant	32	exon8			CCCAGGCAGCAGA	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.1327-1C>T	12.37:g.109613959C>T		Somatic	205	0		WXS	Illumina GAIIx	Phase_I	276	44	NM_001093	0	0	0	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069777	0.36566	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.98012	-4.66;-4.66;-4.66	5.8	2.93	0.34026	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.404642	0.29040	N	0.013334	D	0.93976	0.8071	L	0.31578	0.945	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	D	0.88438	0.3040	10	0.45353	T	0.12	.	9.8024	0.40773	0.0:0.6903:0.0:0.3097	.	443	O00763	ACACB_HUMAN	V	443	ENSP00000341044:A443V;ENSP00000367079:A443V;ENSP00000367085:A443V	ENSP00000341044:A443V	A	+	2	0	ACACB	108098342	0.012000	0.17670	0.837000	0.33122	0.569000	0.35902	0.136000	0.15974	0.339000	0.23719	0.655000	0.94253	GCA	.		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Missense_Mutation	T	109613959	C	T	109613959	5	4	5	1	0	0	0	0	0	0	1	0	107	724	25	3	1358	3	ACACB	12	109613959	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1900448	109613959	24237936	395	856											
OAS2	4939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113442751	113442751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttagggaggatcaaccGccaaaggcacagctctgaag	11	11	2	1	rs143746502		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:113442751G>A	ENST00000342315.4	+	7	1406	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	OAS2_ENST00000392583.2_Missense_Mutation_p.A398T|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	398	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGGATCAACCGCCAAAGGCAC	0.517													G|||	1	0.000199681	0	0	5008	,	,		19896	0.001		0	False		,,,				2504	0				p.A398T	Pancreas(199;709 2232 18410 33584 35052)	.											.	OAS2-91	0			c.G1192A						.						62	62	62					12																	113442751		2203	4300	6503	SO:0001583	missense	4939	exon7			TCAACCGCCAAAG	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1192G>A	12.37:g.113442751G>A	ENSP00000342278:p.Ala398Thr	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	130	66	NM_002535	0	0	0	0	0	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	13.86	2.364157	0.41902	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.10099	2.91;2.91	4.17	3.27	0.37495	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);2-5-oligoadenylate synthetase, conserved site (1);	0.768093	0.10875	N	0.624472	T	0.26666	0.0652	M	0.72894	2.215	0.24669	N	0.993428	D;D	0.76494	0.999;0.999	P;P	0.61477	0.889;0.823	T	0.06338	-1.0832	10	0.72032	D	0.01	-3.8504	7.9747	0.30149	0.1147:0.0:0.8853:0.0	.	398;398	P29728;P29728-2	OAS2_HUMAN;.	T	398	ENSP00000342278:A398T;ENSP00000376362:A398T	ENSP00000342278:A398T	A	+	1	0	OAS2	111927134	0.898000	0.30612	0.137000	0.22149	0.045000	0.14185	2.538000	0.45710	1.106000	0.41623	0.591000	0.81541	GCC	G|0.999;A|0.000		0.517	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			A	113442751	G	A	113442751	3	1	5	1	0	0	0	0	1	0	0	0	10839	1087	38	1	1289	1	OAS2	12	113442751	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3828792	113442751	20409144	396	857											
OAS2	4939	broad.mit.edu;bcgsc.ca	37	chr12	113442852	113442852	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaacgagcggcacaaaatCgtcaaggaaatccatgaaca	8	9	1	1	rs186647423		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:113442852C>T	ENST00000342315.4	+	7	1507	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	OAS2_ENST00000392583.2_Silent_p.I431I|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	431	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCACAAAATCGTCAAGGAAA	0.512																																					p.I431I	Pancreas(199;709 2232 18410 33584 35052)	.											.	OAS2-91	0			c.C1293T						.						83	77	79					12																	113442852		2203	4300	6503	SO:0001819	synonymous_variant	4939	exon7			CAAAATCGTCAAG	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1293C>T	12.37:g.113442852C>T		Somatic	177	1		WXS	Illumina GAIIx	Phase_I	257	12	NM_002535	0	0	0	0	0	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																			C|0.999;A|0.000		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113442852	C	T	113442852	2	4	5	1	0	0	0	0	0	0	0	1	10839	874	31	1		1	OAS2	12	113442852	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	101	113442852	20409043	397	858											
MAP1LC3B2	643246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	117013775	117013775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaagaccttcaagcagCggcgcaccttcgaacaaaga	11	12	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:117013775C>T	ENST00000556529.1	+	1	120	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.R10W			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	10					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)		p.R10G(1)		breast(1)|large_intestine(2)|lung(3)	6						CTTCAAGCAGCGGCGCACCTT	0.607																																					p.R10W		.											.	MAP1LC3B2-68	1	Substitution - Missense(1)	lung(1)	c.C28T						.						83	81	82					12																	117013775		2203	4300	6503	SO:0001583	missense	643246	exon2			AAGCAGCGGCGCA		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.28C>T	12.37:g.117013775C>T	ENSP00000450524:p.Arg10Trp	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	247	52	NM_001085481	0	0	0	1	1		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	7.345	0.621655	0.14193	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.46819	0.86;0.86	2.71	0.0969	0.14492	.	0.137625	0.43919	U	0.000504	T	0.38719	0.1051	L	0.54965	1.715	0.23791	N	0.996836	D	0.56035	0.974	P	0.46049	0.502	T	0.36792	-0.9733	10	0.87932	D	0	-7.7031	2.2994	0.04158	0.2699:0.4932:0.0:0.237	.	10	A6NCE7	MP3B2_HUMAN	W	10	ENSP00000305059:R10W;ENSP00000450524:R10W	ENSP00000305059:R10W	R	+	1	2	MAP1LC3B2	115498158	1.000000	0.71417	0.087000	0.20705	0.038000	0.13279	0.594000	0.24014	-0.096000	0.12329	0.375000	0.23000	CGG	.		0.607	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		T	117013775	C	T	117013775	3	4	5	1	0	0	0	0	1	0	0	0	9270	759	27	1	30	1	MAP1LC3B2	12	117013775	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3570923	117013775	16838120	398	859											
C12orf49	79794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	117160928	117160928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcggcactgattgctcGgacgactgctattgcccaag	12	11	0	1	rs149801903		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:117160928G>A	ENST00000261318.3	-	2	372	c.212C>T	c.(211-213)cCg>cTg	p.P71L	C12orf49_ENST00000536380.1_Intron|C12orf49_ENST00000548356.1_5'Flank	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	71						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CTGATTGCTCGGACGACTGCT	0.552																																					p.P71L		.											.	C12orf49-91	0			c.C212T						.	G	LEU/PRO	0,4406		0,0,2203	169	123	139		212	3.9	0.9	12	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf49	NM_024738.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	71/206	117160928	1,13005	2203	4300	6503	SO:0001583	missense	79794	exon2			TTGCTCGGACGAC	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.212C>T	12.37:g.117160928G>A	ENSP00000261318:p.Pro71Leu	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	366	85	NM_024738	0	0	0	0	0	Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	CCDS9179.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365394	0.24684	0.0	1.16E-4	ENSG00000111412	ENST00000261318	T	0.42513	0.97	3.89	3.89	0.44902	.	0.213035	0.43747	D	0.000540	T	0.16854	0.0405	N	0.11427	0.14	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19095	-1.0316	10	0.09338	T	0.73	-8.6484	3.1324	0.06428	0.1921:0.0:0.57:0.2379	.	71	Q9H741	CL049_HUMAN	L	71	ENSP00000261318:P71L	ENSP00000261318:P71L	P	-	2	0	C12orf49	115645311	1.000000	0.71417	0.944000	0.38274	0.972000	0.66771	3.039000	0.49791	2.469000	0.83416	0.655000	0.94253	CCG	G|1.000;A|0.000		0.552	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		A	117160928	G	A	117160928	3	1	5	1	0	0	0	0	1	0	0	0	1698	1116	39	1	421	1	C12orf49	12	117160928	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	147153	117160928	16690967	399	860											
CAMKK2	10645	hgsc.bcm.edu	37	chr12	121711941	121711941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggactgcggggagctgacgGgtgagtagggcagggacggg	23	6	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:121711941G>T	ENST00000324774.5	-	2	1217	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CAMKK2_ENST00000392473.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P130H|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P130H|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P130H|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P130H|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P130H|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P130H	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	130					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGCTGACGGGTGAGTAGGG	0.687																																					p.P130H		.											.	CAMKK2-450	0			c.C389A						.						22	26	25					12																	121711941		2201	4298	6499	SO:0001583	missense	10645	exon2			CTGACGGGTGAGT	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.389C>A	12.37:g.121711941G>T	ENSP00000312741:p.Pro130His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	198	80	NM_153500	0	0	0	1	1	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188016	0.57909	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.75477	-0.9;-0.86;-0.85;-0.88;-0.94;-0.88;-0.94;-0.86;-0.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.76071	0.976;0.982;0.987;0.987;0.987;0.971;0.987	D	0.85338	0.1094	10	0.87932	D	0	-6.0821	17.9471	0.89042	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	H	130;130;130;130;130;130;130;113;130;130	ENSP00000376266:P130H;ENSP00000321230:P130H;ENSP00000445944:P130H;ENSP00000336634:P130H;ENSP00000312741:P130H;ENSP00000388368:P130H;ENSP00000384600:P130H;ENSP00000388273:P130H;ENSP00000376265:P130H	ENSP00000312741:P130H	P	-	2	0	CAMKK2	120196324	1.000000	0.71417	0.303000	0.25071	0.023000	0.10783	8.791000	0.91849	2.561000	0.86390	0.462000	0.41574	CCC	.		0.687	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		T	121711941	G	T	121711941	3	4	5	1	0	0	0	0	1	0	0	0	2614	1232	43	3	1451	3	CAMKK2	12	121711941	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4551013	121711941	12139954	400	861											
RHOF	54509	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	122219074	122219074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctggtaggacaggggcCgcagccggtcatagtcttct	14	10	4	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:122219074C>T	ENST00000267205.2	-	3	879	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	TMEM120B_ENST00000538055.1_Intron|RHOF_ENST00000537171.1_Missense_Mutation_p.R84Q|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_5'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	84					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGACAGGGGCCGCAGCCGGTC	0.622																																					p.R84Q		.											.	RHOF-660	0			c.G251A						.						106	100	102					12																	122219074		2203	4300	6503	SO:0001583	missense	54509	exon3			AGGGGCCGCAGCC	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.251G>A	12.37:g.122219074C>T	ENSP00000267205:p.Arg84Gln	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	247	52	NM_019034	0	0	25	27	2	Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813918	0.96975	.	.	ENSG00000139725	ENST00000267205;ENST00000535560	T;T	0.72167	-0.63;-0.63	5.03	5.03	0.67393	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94399	0.7621	10	0.87932	D	0	.	18.3082	0.90189	0.0:1.0:0.0:0.0	.	84;84	Q9HBH0-2;Q9HBH0	.;RHOF_HUMAN	Q	84	ENSP00000267205:R84Q;ENSP00000440397:R84Q	ENSP00000267205:R84Q	R	-	2	0	RHOF	120703457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.401000	0.79962	2.488000	0.83962	0.650000	0.86243	CGG	.		0.622	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			T	122219074	C	T	122219074	3	4	5	1	0	0	0	0	1	0	0	0	13383	652	23	1	396	1	RHOF	12	122219074	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	507133	122219074	11632821	401	862											
HIP1R	9026	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	123339931	123339932	+	Frame_Shift_Ins	INS	-	-	C													tcattgagatcagcacagggINSccccccgcgggggagccagt							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:123339931_123339932insC	ENST00000253083.4	+	11	1097_1098	c.972_973insC	c.(973-975)cccfs	p.P325fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	325					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TCAGCACAGGGCCCCCCGCGGG	0.688																																					p.G324fs		.											.	HIP1R-91	0			c.972_973insC						.																																			SO:0001589	frameshift_variant	9026	exon11			CACAGGGCCCCCC	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.978dupC	12.37:g.123339937_123339937dupC	ENSP00000253083:p.Pro325fs	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	171	60	NM_003959	0	0	0	0	0	A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Ins	INS	ENST00000253083.4	37	CCDS31922.1																																																																																			.		0.688	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		C	123339932	-	C	123339931	7	5	5	1	0	1	1	0	0	0	0	0	7142	1190	42	0	1014	0	HIP1R	12	123339931	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	1120857	123339931	10511964	402	863											
SNRNP35	11066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	123950559	123950559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactgagatttgggggaCgggaccggccttttcgaaaa	15	8	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:123950559C>T	ENST00000526639.2	+	2	1051	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R163W|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R158W	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	158	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ATTTGGGGGACGGGACCGGCC	0.537																																					p.R163W		.											.	SNRNP35-68	0			c.C487T						.						54	64	61					12																	123950559		2203	4300	6503	SO:0001583	missense	11066	exon2			GGGGGACGGGACC	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.472C>T	12.37:g.123950559C>T	ENSP00000432595:p.Arg158Trp	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	55	7	NM_180699	0	0	43	50	7	A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858274	0.71834	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75260	-0.92;-0.92;-0.92	5.76	3.94	0.45596	.	0.060682	0.64402	D	0.000003	D	0.85579	0.5729	M	0.82517	2.595	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.86165	0.1596	10	0.87932	D	0	-10.9393	11.0262	0.47746	0.1296:0.8039:0.0:0.0665	.	163;158	Q16560-2;Q16560	.;U1SBP_HUMAN	W	158;163;158	ENSP00000432595:R158W;ENSP00000403310:R163W;ENSP00000340774:R158W	ENSP00000340774:R158W	R	+	1	2	SNRNP35	122516512	0.997000	0.39634	0.511000	0.27724	0.987000	0.75469	3.639000	0.54339	0.803000	0.34113	0.555000	0.69702	CGG	.		0.537	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		T	123950559	C	T	123950559	3	4	5	1	0	0	0	0	1	0	0	0	14900	527	19	1	493	1	SNRNP35	12	123950559	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	610628	123950559	9901336	403	864											
DNAH10	196385	broad.mit.edu	37	chr12	124417938	124417938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatccctgagtcctacCtcacggcgctggtgcaggcc	11	16	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:124417938C>T	ENST00000409039.3	+	76	13028	c.13003C>T	c.(13003-13005)Ctc>Ttc	p.L4335F	DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4335					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGTCCTACCTCACGGCGCT	0.622																																					p.L4335F		.											.	DNAH10-95	0			c.C13003T						.						26	28	28					12																	124417938		1978	4158	6136	SO:0001583	missense	196385	exon76			TCCTACCTCACGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13003C>T	12.37:g.124417938C>T	ENSP00000386770:p.Leu4335Phe	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	225	5	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523266	0.85600	.	.	ENSG00000197653	ENST00000409039	T	0.18174	2.23	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.64402	D	0.000004	T	0.57799	0.2078	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73544	-0.3949	10	0.87932	D	0	.	18.3051	0.90177	0.0:1.0:0.0:0.0	.	4335	Q8IVF4	DYH10_HUMAN	F	4335	ENSP00000386770:L4335F	ENSP00000386770:L4335F	L	+	1	0	DNAH10	122983891	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.896000	0.69822	2.413000	0.81919	0.561000	0.74099	CTC	.		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124417938	C	T	124417938	3	4	5	1	0	0	0	0	1	0	0	0	4612	681	24	3	13305	3	DNAH10	12	124417938	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	467379	124417938	9433957	404	865											
NCOR2	9612	hgsc.bcm.edu	37	chr12	124829305	124829305	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcaatggagccccccgAgctgctggcggtccctggcc	15	17	0	0	rs75902515	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:124829305A>T	ENST00000405201.1	-	32	4552	c.4552T>A	c.(4552-4554)Tcg>Acg	p.S1518T	NCOR2_ENST00000356219.3_Missense_Mutation_p.S1525T|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1079T|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1508T|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1508T|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1509T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1526					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)		GAGCCCCCCGAGCTGCTGGCG	0.706													A|||	56	0.0111821	0.0371	0.0086	5008	,	,		13371	0		0.001	False		,,,				2504	0				p.S1518T		.											.	NCOR2-229	0			c.T4552A						.	A	THR/SER,THR/SER,THR/SER	70,3404		0,70,1667	4	7	6		4522,4522,4552	-6.4	0	12	dbSNP_131	6	2,7418		0,2,3708	yes	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	58,58,58	0,72,5375	TT,TA,AA		0.027,2.015,0.6609	possibly-damaging,possibly-damaging,possibly-damaging	1508/2459,1508/2505,1518/2515	124829305	72,10822	1737	3710	5447	SO:0001583	missense	9612	exon34			CCCCCGAGCTGCT	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.4552T>A	12.37:g.124829305A>T	ENSP00000384018:p.Ser1518Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	7	NM_006312	0	0	8	20	12	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	5.641	0.303022	0.10678	0.02015	2.7E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.36	-6.38	0.01957	.	0.594157	0.17228	N	0.182042	T	0.16599	0.0399	L	0.52126	1.63	0.09310	N	0.999999	P;P;P	0.44734	0.737;0.842;0.792	B;B;B	0.40066	0.22;0.3;0.318	T	0.07558	-1.0766	10	0.48119	T	0.1	-4.2205	3.7949	0.08736	0.2761:0.4475:0.0703:0.206	.	1508;1509;1518	C9J0Q5;C9J239;C9JFD3	.;.;.	T	1518;1508;1525;1509;1517;1079;1508	ENSP00000384018:S1518T;ENSP00000384202:S1508T;ENSP00000348551:S1525T;ENSP00000380513:S1509T;ENSP00000385618:S1079T;ENSP00000400281:S1508T	ENSP00000348551:S1525T	S	-	1	0	NCOR2	123395258	0.942000	0.31987	0.000000	0.03702	0.095000	0.18619	0.033000	0.13754	-1.695000	0.01423	0.397000	0.26171	TCG	.		0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124829305	A	T	124829305	3	4	5	1	0	0	0	0	1	0	0	0	10275	304	11	5	3056	5	NCOR2	12	124829305	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	411367	124829305	9022590	405	866											
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	130184571	130184571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtcactgtggcctgtcCggatcccattgcttctcctc	9	15	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:130184571C>A	ENST00000422113.2	-	2	1078	c.752G>T	c.(751-753)cGg>cTg	p.R251L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	251					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R251L(1)		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)		GTGGCCTGTCCGGATCCCATT	0.617																																					p.R251L		.											.	TMEM132D-106	1	Substitution - Missense(1)	lung(1)	c.G752T						.						100	87	92					12																	130184571		2203	4300	6503	SO:0001583	missense	121256	exon2			CCTGTCCGGATCC	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.752G>T	12.37:g.130184571C>A	ENSP00000408581:p.Arg251Leu	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	134	59	NM_133448	0	0	0	0	0	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435441	0.43224	.	.	ENSG00000151952	ENST00000422113	T	0.14766	2.48	5.35	2.37	0.29283	.	0.779071	0.11556	N	0.552315	T	0.20373	0.0490	M	0.77103	2.36	0.09310	N	1	P	0.43701	0.815	B	0.41571	0.36	T	0.08806	-1.0704	9	.	.	.	-18.8043	10.4046	0.44249	0.0:0.6693:0.2605:0.0702	.	251	Q14C87	T132D_HUMAN	L	251	ENSP00000408581:R251L	.	R	-	2	0	TMEM132D	128750524	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	0.231000	0.17872	0.598000	0.29829	0.650000	0.86243	CGG	.		0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130184571	C	A	130184571	3	1	5	1	0	0	0	0	1	0	0	0	16094	652	23	2	2579	2	TMEM132D	12	130184571	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5355266	130184571	3667324	406	867											
POLE	5426	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	133249853	133249853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgacacagaatacGtggccagagtctgaggagag	13	9	2	5			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr12:133249853G>A	ENST00000320574.5	-	14	1413	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	POLE_ENST00000535270.1_Missense_Mutation_p.T430M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					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)	CACAGAATACGTGGCCAGAGT	0.522								DNA polymerases (catalytic subunits)																													p.T457M		.											.	POLE-233	0			c.C1370T						.						169	143	152					12																	133249853		2203	4300	6503	SO:0001583	missense	5426	exon14			GAATACGTGGCCA		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.1370C>T	12.37:g.133249853G>A	ENSP00000322570:p.Thr457Met	Somatic	217	1		WXS	Illumina GAIIx	Phase_I	278	66	NM_006231	0	0	0	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682300	0.68042	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.42131	4.82;4.82;4.82;0.98	5.37	5.37	0.77165	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.65010	0.931;0.786	T	0.59484	-0.7446	10	0.72032	D	0.01	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	430;457	F5H1D6;Q07864	.;DPOE1_HUMAN	M	457;468;430;237;392;75	ENSP00000322570:T457M;ENSP00000406383:T468M;ENSP00000445753:T430M;ENSP00000442519:T237M	ENSP00000322570:T457M	T	-	2	0	POLE	131759926	1.000000	0.71417	0.988000	0.46212	0.220000	0.24768	9.807000	0.99171	2.524000	0.85096	0.313000	0.20887	ACG	.		0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133249853	G	A	133249853	3	1	5	1	0	0	0	0	1	0	0	0	12235	1145	40	1	5634	1	POLE	12	133249853	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3065282	133249853	602042	407	868											
SPATA13	221178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	24825999	24825999	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagatgagagcatccaaCggtgagtctcagagtccctt	12	11	1	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:24825999C>T	ENST00000382095.4	+	3	695	c.288C>T	c.(286-288)aaC>aaT	p.N96N	SPATA13_ENST00000424834.2_Splice_Site_p.N721N|RP11-307N16.6_ENST00000382141.4_Splice_Site_p.N599N|SPATA13_ENST00000382108.3_Splice_Site_p.N721N|SPATA13-AS1_ENST00000430733.1_RNA	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	96					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GAGCATCCAACGGTGAGTCTC	0.612																																					p.N721N		.											.	SPATA13-229	0			c.C2163T						.						43	39	40					13																	24825999		2203	4300	6503	SO:0001630	splice_region_variant	221178	exon4			ATCCAACGGTGAG	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.289+1C>T	13.37:g.24825999C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	63	52	NM_001166271	0	0	0	0	0	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371671	0.24771	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.96	-2.26	0.06867	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57510	-0.7799	4	.	.	.	.	12.4158	0.55492	0.0:0.259:0.0:0.741	.	.	.	.	C	759	.	.	R	+	1	0	SPATA13	23723999	0.792000	0.28813	0.263000	0.24496	0.908000	0.53690	0.017000	0.13399	-0.268000	0.09312	0.650000	0.86243	CGT	.		0.612	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	Silent	T	24825999	C	T	24825999	5	4	5	1	0	0	0	0	0	0	1	0	15047	550	19	1	2173	1	SPATA13	13	24825999	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		24825999	90343879	408	869											
TSC22D1	8848	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	45147753	45147753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggcaaagaactaactgCaggcaactgctgtgaaacaa	11	8	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:45147753C>T	ENST00000458659.2	-	1	2948	c.2458G>A	c.(2458-2460)Gca>Aca	p.A820T	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	820					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAACTAACTGCAGGCAACTGC	0.458																																					p.A820T		.											.	TSC22D1-90	0			c.G2458A						.						124	130	128					13																	45147753		2203	4300	6503	SO:0001583	missense	8848	exon1			TAACTGCAGGCAA	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2458G>A	13.37:g.45147753C>T	ENSP00000397435:p.Ala820Thr	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	103	9	NM_183422	0	0	4	4	0	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730331	0.15507	.	.	ENSG00000102804	ENST00000458659	D	0.85088	-1.94	4.77	1.29	0.21616	.	0.372474	0.22569	N	0.058373	T	0.67239	0.2872	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52124	-0.8617	10	0.08381	T	0.77	.	7.3482	0.26676	0.0:0.6374:0.1441:0.2185	.	820	Q15714	T22D1_HUMAN	T	820	ENSP00000397435:A820T	ENSP00000397435:A820T	A	-	1	0	TSC22D1	44045753	0.998000	0.40836	0.988000	0.46212	0.800000	0.45204	0.837000	0.27558	0.374000	0.24650	0.462000	0.41574	GCA	.		0.458	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		T	45147753	C	T	45147753	3	4	5	1	0	0	0	0	1	0	0	0	16655	710	25	3	904	3	TSC22D1	13	45147753	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	20321754	45147753	70022125	409	870											
ABCC4	10257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	95840746	95840746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaccacagctaacaattcGccaggtctgacagtaaagga	9	12	1	1	rs150945397		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000431522.1_Silent_p.G438G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTAACAATTCGCCAGGTCTGA	0.453																																					p.G438G		.											.	ABCC4-515	0			c.C1314T						.	G	,	2,4404	4.2+/-10.8	0,2,2201	121	115	117		1314,1314	-10.4	0.1	13	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC4	NM_001105515.1,NM_005845.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	438/860,438/1326	95840746	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10257	exon10			CAATTCGCCAGGT	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.1314C>T	13.37:g.95840746G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	106	94	NM_005845	0	0	0	0	0	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																			G|1.000;A|0.000		0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95840746	G	A	95840746	2	1	5	1	0	0	0	0	0	0	0	1	55	1074	38	1		1	ABCC4	13	95840746	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	50692993	95840746	19329132	410	871											
ING1	3621	bcgsc.ca	37	chr13	111371922	111371922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacgagaaccgtgagaaCgcgtccagcaaccacgacca	9	14	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:111371922C>T	ENST00000375774.3	+	2	1374	c.912C>T	c.(910-912)aaC>aaT	p.N304N	ING1_ENST00000375775.3_Silent_p.N92N|ING1_ENST00000338450.7_Silent_p.N117N|ING1_ENST00000333219.7_Silent_p.N161N	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	304					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCGTGAGAACGCGTCCAGCA	0.657																																					p.N304N		.											.	ING1-515	0			c.C912T						.						54	44	47					13																	111371922		2199	4299	6498	SO:0001819	synonymous_variant	3621	exon2			TGAGAACGCGTCC		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.912C>T	13.37:g.111371922C>T		Somatic	82	2		WXS	Illumina GAIIx	Phase_I	282	255	NM_005537	0	0	1	16	15	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			.		0.657	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111371922	C	T	111371922	2	4	5	1	0	0	0	0	0	0	0	1	7762	535	19	1		1	ING1	13	111371922	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	15531176	111371922	3797956	411	872											
ARHGEF7	8874	broad.mit.edu	37	chr13	111938538	111938538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaaagctgctgcccaaGcgcaaacctgaacggaagcc	10	12	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:111938538G>A	ENST00000375741.2	+	18	2308	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	ARHGEF7_ENST00000370623.3_Silent_p.K593K|ARHGEF7_ENST00000218789.5_Silent_p.K508K|ARHGEF7_ENST00000375739.2_Silent_p.K636K|ARHGEF7_ENST00000426073.2_Silent_p.K508K|ARHGEF7_ENST00000317133.5_Silent_p.K665K|ARHGEF7_ENST00000478679.1_Silent_p.K430K|ARHGEF7_ENST00000375737.5_Silent_p.K583K|ARHGEF7_ENST00000375736.4_Silent_p.K508K|ARHGEF7_ENST00000375723.1_Silent_p.K508K	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	686					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)			TGCTGCCCAAGCGCAAACCTG	0.502																																					p.K686K		.											.	ARHGEF7-232	0			c.G2058A						.						101	93	95					13																	111938538		2203	4300	6503	SO:0001819	synonymous_variant	8874	exon18			GCCCAAGCGCAAA	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2058G>A	13.37:g.111938538G>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	259	8	NM_001113511	0	0	19	19	0	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1																																																																																			.		0.502	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		A	111938538	G	A	111938538	2	1	5	1	0	0	0	0	0	0	0	1	911	962	34	3		3	ARHGEF7	13	111938538	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	566616	111938538	3231340	412	873											
MCF2L	23263	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	113741680	113741680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcacctgttcctgcaCgagaaggcagtgctcttctg	12	13	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:113741680C>T	ENST00000375608.3	+	23	2653	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	MCF2L_ENST00000375604.2_Silent_p.H892H|MCF2L_ENST00000442652.2_Silent_p.H865H|MCF2L_ENST00000375597.4_Silent_p.H833H|MCF2L_ENST00000423482.2_Silent_p.H833H|MCF2L_ENST00000434480.2_Silent_p.H841H|MCF2L_ENST00000375601.3_Silent_p.H839H|MCF2L_ENST00000421756.1_Silent_p.H839H|MCF2L_ENST00000535094.2_Silent_p.H835H|MCF2L_ENST00000397030.1_Silent_p.H868H			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	865	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGTTCCTGCACGAGAAGGCAG	0.577																																					p.H835H		.											.	MCF2L-228	0			c.C2505T						.						73	55	61					13																	113741680		2203	4300	6503	SO:0001819	synonymous_variant	23263	exon22			CCTGCACGAGAAG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2595C>T	13.37:g.113741680C>T		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	344	62	NM_001112732	0	0	1	1	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.168|0.168	-1.074735|-1.074735	0.01903|0.01903	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000413354;ENST00000261963	.|.	.|.	.|.	4.57|4.57	-5.11|-5.11	0.02901|0.02901	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53270	.|0.1786	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54029	.|-0.8354	.|4	.|.	.|.	.|.	.|.	10.5075|10.5075	0.44842|0.44842	0.0:0.2324:0.1003:0.6673|0.0:0.2324:0.1003:0.6673	.|.	.|.	.|.	.|.	X|M	496|65;6	.|.	.|.	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112789681|112789681	0.056000|0.056000	0.20664|0.20664	0.858000|0.858000	0.33744|0.33744	0.090000|0.090000	0.18270|0.18270	-0.718000|-0.718000	0.04980|0.04980	-1.138000|-1.138000	0.02884|0.02884	-1.830000|-1.830000	0.00593|0.00593	CGA|ACG	.		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			T	113741680	C	T	113741680	2	4	5	1	0	0	0	0	0	0	0	1	9417	535	19	1		1	MCF2L	13	113741680	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1803142	113741680	1428198	413	874											
TFDP1	7027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	114292172	114292172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcgtgttcatcacgaCggcaggttccacgtctaacg	13	11	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:114292172C>T	ENST00000375370.5	+	11	1258	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	TFDP1_ENST00000538138.1_Missense_Mutation_p.T254M|TFDP1_ENST00000544902.1_Missense_Mutation_p.T320M	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	349					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTCATCACGACGGCAGGTTCC	0.557										TSP Lung(29;0.18)																											p.T349M		.											.	TFDP1-416	0			c.C1046T						.						123	110	114					13																	114292172		2203	4300	6503	SO:0001583	missense	7027	exon11			TCACGACGGCAGG	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1046C>T	13.37:g.114292172C>T	ENSP00000364519:p.Thr349Met	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	363	44	NM_007111	0	0	20	24	4	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	7.154	0.584315	0.13749	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.51325	0.84;1.9;0.71	4.8	4.8	0.61643	.	0.775281	0.11839	N	0.524504	T	0.56514	0.1990	L	0.47716	1.5	0.09310	N	0.999994	D;D;P	0.71674	0.998;0.98;0.798	P;B;B	0.53549	0.729;0.416;0.197	T	0.51818	-0.8657	10	0.42905	T	0.14	.	17.201	0.86906	0.0:1.0:0.0:0.0	.	320;254;349	F5H452;B4DLQ9;Q14186	.;.;TFDP1_HUMAN	M	254;349;320	ENSP00000443878:T254M;ENSP00000364519:T349M;ENSP00000438450:T320M	ENSP00000364519:T349M	T	+	2	0	TFDP1	113340173	0.534000	0.26362	0.007000	0.13788	0.006000	0.05464	2.442000	0.44873	2.348000	0.79779	0.561000	0.74099	ACG	.		0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		T	114292172	C	T	114292172	3	4	5	1	0	0	0	0	1	0	0	0	15844	536	19	1	1084	1	TFDP1	13	114292172	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	550492	114292172	877706	414	875											
GRK1	6011	broad.mit.edu	37	chr13	114325865	114325865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcttcccggagccgcgCgccctcttctacacggcgca	11	19	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr13:114325865C>T	ENST00000335678.6	+	3	1111	c.879C>T	c.(877-879)cgC>cgT	p.R293R		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CGGAGCCGCGCGCCCTCTTCT	0.617																																					p.R293R		.											.	GRK1-614	0			c.C879T						.						43	49	47					13																	114325865		2039	4189	6228	SO:0001819	synonymous_variant	6011	exon3			GCCGCGCGCCCTC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.879C>T	13.37:g.114325865C>T		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	202	6	NM_002929	0	0	0	0	0	Q53X14	Silent	SNP	ENST00000335678.6	37																																																																																				.		0.617	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		T	114325865	C	T	114325865	2	4	5	1	0	0	0	0	0	0	0	1	6817	755	27	1		1	GRK1	13	114325865	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	33693	114325865	844013	415	876											
MMP14	4323	hgsc.bcm.edu	37	chr14	23315160	23315160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctcctggtgctggCggtgggccttgcagtcttct	15	12	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23315160C>T	ENST00000311852.6	+	10	1922	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	554					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CTGGTGCTGGCGGTGGGCCTT	0.677																																					p.A554V		.											.	MMP14-226	0			c.C1661T						.						28	29	28					14																	23315160		2194	4292	6486	SO:0001583	missense	4323	exon10			TGCTGGCGGTGGG		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1661C>T	14.37:g.23315160C>T	ENSP00000308208:p.Ala554Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	34	15	NM_004995	0	0	10	16	6	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317770	0.10845	.	.	ENSG00000157227	ENST00000311852	T	0.24151	1.87	4.65	3.75	0.43078	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.339413	0.30374	N	0.009761	T	0.12902	0.0313	N	0.13140	0.3	0.35894	D	0.829908	B	0.12013	0.005	B	0.14578	0.011	T	0.12268	-1.0554	10	0.08381	T	0.77	.	11.4428	0.50107	0.0:0.9087:0.0:0.0913	.	554	P50281	MMP14_HUMAN	V	554	ENSP00000308208:A554V	ENSP00000308208:A554V	A	+	2	0	MMP14	22385000	0.986000	0.35501	0.978000	0.43139	0.952000	0.60782	2.661000	0.46758	2.296000	0.77279	0.460000	0.39030	GCG	.		0.677	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		T	23315160	C	T	23315160	3	4	5	1	0	0	0	0	1	0	0	0	9691	768	27	1	1699	1	MMP14	14	23315160	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		23315160	84034380	416	877											
MMP14	4323	broad.mit.edu	37	chr14	23315199	23315199	+	Frame_Shift_Del	DEL	C	C	-													cttcttcagacgccatgggaCccccaggcgactgctctact							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23315199delC	ENST00000311852.6	+	10	1961	c.1700delC	c.(1699-1701)accfs	p.T567fs	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	567					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CGCCATGGGACCCCCAGGCGA	0.682																																					p.T567fs		.											.	MMP14-226	0			c.1700delC						.						21	21	21					14																	23315199		2180	4282	6462	SO:0001589	frameshift_variant	4323	exon10			ATGGGACCCCCAG		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1700delC	14.37:g.23315199delC	ENSP00000308208:p.Thr567fs	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	50	7	NM_004995	0	0	0	0	0	A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	CCDS9577.1																																																																																			.		0.682	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		-	23315199	C	-	23315199	7	5	5	1	0	1	0	1	0	0	0	0	9691	507	18	0	1738	0	MMP14	14	23315199	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	39	23315199	84034341	417	878											
EFS	10278	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	23828979	23828979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctgccagcagttcctcGggtgcttcatacaaattgag	10	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:23828979G>A	ENST00000216733.3	-	4	1315	c.708C>T	c.(706-708)ccC>ccT	p.P236P	EFS_ENST00000351354.3_Silent_p.P143P|EFS_ENST00000429593.2_Intron|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	236	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGTTCCTCGGGTGCTTCAT	0.642																																					p.P236P		.											.	EFS-153	0			c.C708T						.						51	60	57					14																	23828979		2203	4298	6501	SO:0001819	synonymous_variant	10278	exon4			TTCCTCGGGTGCT	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.708C>T	14.37:g.23828979G>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	83	13	NM_005864	0	0	0	0	0	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	CCDS9595.1																																																																																			.		0.642	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			A	23828979	G	A	23828979	2	1	5	1	0	0	0	0	0	0	0	1	4973	1103	39	1		1	EFS	14	23828979	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	513780	23828979	83520561	418	879											
AKAP6	9472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	33014537	33014537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcattactgcattcgaActgtctgactacagtccaag	9	10	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:33014537A>G	ENST00000280979.4	+	4	848	c.678A>G	c.(676-678)gaA>gaG	p.E226E	AKAP6_ENST00000557354.1_Silent_p.E226E|AKAP6_ENST00000557272.1_Silent_p.E226E	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	226					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCATTCGAACTGTCTGACT	0.448																																					p.E226E	Melanoma(49;821 1200 7288 13647 42351)	.											.	AKAP6-733	0			c.A678G						.						159	142	148					14																	33014537		2203	4300	6503	SO:0001819	synonymous_variant	9472	exon4			ATTCGAACTGTCT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.678A>G	14.37:g.33014537A>G		Somatic	288	1		WXS	Illumina GAIIx	Phase_I	420	188	NM_004274	0	0	0	0	0	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																			.		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		G	33014537	A	G	33014537	2	3	5	1	0	0	0	0	0	0	0	1	455	40	2	4		4	AKAP6	14	33014537	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	9185558	33014537	74335003	419	880											
BAZ1A	11177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	35231352	35231352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcttgttgttggccaCgacttgagaaagaagagcta	12	7	1	3	rs545004797	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:35231352C>T	ENST00000382422.2	-	23	4181	c.3854G>A	c.(3853-3855)cGt>cAt	p.R1285H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1253H|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R1285H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1285					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGTTGGCCACGACTTGAGAA	0.408													C|||	2	0.000399361	0	0	5008	,	,		19260	0		0	False		,,,				2504	0.002				p.R1285H		.											.	BAZ1A-291	0			c.G3854A						.						170	151	158					14																	35231352		2203	4300	6503	SO:0001583	missense	11177	exon24			TGGCCACGACTTG	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3854G>A	14.37:g.35231352C>T	ENSP00000371859:p.Arg1285His	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	128	26	NM_013448	0	0	9	11	2	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	18.35	3.605268	0.66445	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.57907	0.37;0.37;0.37	5.78	5.78	0.91487	.	0.258732	0.40385	N	0.001119	T	0.49270	0.1547	L	0.32530	0.975	0.36884	D	0.889532	D;D	0.63046	0.992;0.987	P;P	0.51582	0.674;0.474	T	0.55082	-0.8196	10	0.41790	T	0.15	.	9.7379	0.40399	0.0:0.8096:0.0:0.1904	.	1253;1285	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	1253;1285;1285;937	ENSP00000351555:R1253H;ENSP00000371859:R1285H;ENSP00000353458:R1285H	ENSP00000351555:R1253H	R	-	2	0	BAZ1A	34301103	0.893000	0.30496	1.000000	0.80357	0.846000	0.48090	0.672000	0.25187	2.722000	0.93159	0.467000	0.42956	CGT	.		0.408	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			T	35231352	C	T	35231352	3	4	5	1	0	0	0	0	1	0	0	0	1330	536	19	1	832	1	BAZ1A	14	35231352	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2216815	35231352	72118188	420	881											
NIN	51199	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	51237214	51237215	+	Frame_Shift_Del	DEL	CT	CT	-													cctgcctgctgcaggatctgCtctctctcttttcggagttc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:51237214_51237215delCT	ENST00000382041.3	-	12	1515_1516	c.1325_1326delAG	c.(1324-1326)gagfs	p.E442fs	NIN_ENST00000382043.4_Frame_Shift_Del_p.E442fs|NIN_ENST00000530997.2_Frame_Shift_Del_p.E442fs|NIN_ENST00000245441.5_Frame_Shift_Del_p.E442fs|NIN_ENST00000389868.3_Frame_Shift_Del_p.E442fs|NIN_ENST00000324330.9_Frame_Shift_Del_p.E442fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.E442fs	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	442					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCAGGATCTGCTCTCTCTCTTT	0.46			T	PDGFRB	MPD																																p.442_442del		.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN-229	0			c.1325_1326del						.																																			SO:0001589	frameshift_variant	51199	exon12			GATCTGCTCTCTC	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1325_1326delAG	14.37:g.51237222_51237223delCT	ENSP00000371472:p.Glu442fs	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	127	59	NM_020921	0	0	0	0	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Frame_Shift_Del	DEL	ENST00000382041.3	37	CCDS32079.1																																																																																			.		0.46	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		-	51237215	CT	-	51237214	7	5	5	1	0	1	0	1	0	0	0	0	10456	796	28	0	5303	0	NIN	14	51237214	Frame_Shift_Del	DEL	CT	TCGA-OR-A5J5-01A-11D-A29I-10	16005862	51237214	56112326	421	882											
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64644168	64644168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcttccagagcttcaCgaggacctccataacgaaaa	7	13	2	1	rs202141038		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:64644168C>T	ENST00000344113.4	+	96	17735	c.17523C>T	c.(17521-17523)caC>caT	p.H5841H	SYNE2_ENST00000358025.3_Silent_p.H5841H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.H2475H|SYNE2_ENST00000357395.3_Silent_p.H2226H|SYNE2_ENST00000394768.2_Silent_p.H2226H|SYNE2_ENST00000554584.1_Silent_p.H5706H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5841					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)		CAGAGCTTCACGAGGACCTCC	0.408													C|||	1	0.000199681	8e-04	0	5008	,	,		17805	0		0	False		,,,				2504	0				p.H5841H		.											.	SYNE2-164	0			c.C17523T						.						88	90	89					14																	64644168		2203	4300	6503	SO:0001819	synonymous_variant	23224	exon96			GCTTCACGAGGAC	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.17523C>T	14.37:g.64644168C>T		Somatic	187	0		WXS	Illumina GAIIx	Phase_I	247	116	NM_182914	0	0	2	3	1	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			C|0.999;T|0.000		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64644168	C	T	64644168	2	4	5	1	0	0	0	0	0	0	0	1	15493	535	19	1		1	SYNE2	14	64644168	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	13406954	64644168	42705372	422	883											
SYNE2	23224	broad.mit.edu	37	chr14	64680991	64680991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccagactgattcttggcGtaaacggggagagagcgagg	15	7	1	3	rs150629598	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:64680991G>A	ENST00000344113.4	+	106	19348	c.19136G>A	c.(19135-19137)cGt>cAt	p.R6379H	SYNE2_ENST00000358025.3_Missense_Mutation_p.R6379H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3013H|SYNE2_ENST00000554805.1_Missense_Mutation_p.R162H|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2764H|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2764H|SYNE2_ENST00000555022.1_Missense_Mutation_p.R257H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6321H|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_Missense_Mutation_p.R13H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6379					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)		GATTCTTGGCGTAAACGGGGA	0.552																																					p.R6379H		.											.	SYNE2-164	0			c.G19136A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133	134	133		19136,38,19136	0.1	0.3	14	dbSNP_134	133	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,missense	SYNE2	NM_015180.4,NM_182913.2,NM_182914.2	29,29,29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign	6379/6886,13/557,6379/6908	64680991	4,13002	2203	4300	6503	SO:0001583	missense	23224	exon106			CTTGGCGTAAACG	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.19136G>A	14.37:g.64680991G>A	ENSP00000341781:p.Arg6379His	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	213	7	NM_182914	0	0	3	3	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	5.527	0.282141	0.10458	2.27E-4	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.57436	0.86;4.17;0.87;0.4;4.21;4.17;3.82;3.33;2.91	5.27	0.0723	0.14386	.	0.705077	0.12755	N	0.441853	T	0.22513	0.0543	N	0.02539	-0.55	0.37304	D	0.908842	B;B;B;B;B;B;B	0.13145	0.004;0.0;0.007;0.001;0.003;0.001;0.002	B;B;B;B;B;B;B	0.09377	0.001;0.001;0.004;0.001;0.003;0.001;0.002	T	0.11494	-1.0585	10	0.20046	T	0.44	.	8.0687	0.30676	0.6564:0.0:0.3436:0.0	.	13;2764;13;767;6321;6379;6379	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	H	6379;2764;6379;6321;6327;3013;2764;257;162;13	ENSP00000350719:R6379H;ENSP00000349969:R2764H;ENSP00000341781:R6379H;ENSP00000452570:R6321H;ENSP00000450831:R3013H;ENSP00000378249:R2764H;ENSP00000451009:R257H;ENSP00000450605:R162H;ENSP00000391937:R13H	ENSP00000261678:R6327H	R	+	2	0	SYNE2	63750744	0.959000	0.32827	0.343000	0.25615	0.006000	0.05464	0.929000	0.28844	0.101000	0.17610	-0.137000	0.14449	CGT	G|1.000;A|0.000		0.552	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64680991	G	A	64680991	3	1	5	1	0	0	0	0	1	0	0	0	15493	1145	40	1	19554	1	SYNE2	14	64680991	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	36823	64680991	42668549	423	884											
ACTN1	87	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	69371417	69371417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtacttctctgccaCgtcaaaagccgtattcagat	8	12	3	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:69371417C>T	ENST00000193403.6	-	7	1014	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	ACTN1_ENST00000438964.2_Missense_Mutation_p.V211M|ACTN1_ENST00000538545.2_Missense_Mutation_p.V211M|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.V211M|ACTN1_ENST00000376839.3_Missense_Mutation_p.V146M	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	211	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTCTGCCACGTCAAAAGCC	0.532																																					p.V211M		.											.	ACTN1-514	0			c.G631A						.						160	125	136					14																	69371417		2203	4300	6503	SO:0001583	missense	87	exon7			CTGCCACGTCAAA	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.631G>A	14.37:g.69371417C>T	ENSP00000193403:p.Val211Met	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	245	27	NM_001102	0	0	1	2	1	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188546	0.78789	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	D;D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	4.98	4.98	0.66077	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.87617	2.895	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;0.989;0.98	D	0.98106	1.0417	10	0.87932	D	0	.	18.8004	0.92015	0.0:1.0:0.0:0.0	.	211;211;211;211	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	M	211;211;211;146;211;146;190	ENSP00000193403:V211M;ENSP00000377941:V211M;ENSP00000414272:V211M;ENSP00000366035:V146M;ENSP00000439828:V211M;ENSP00000450903:V146M;ENSP00000450764:V190M	ENSP00000193403:V211M	V	-	1	0	ACTN1	68441170	1.000000	0.71417	0.994000	0.49952	0.436000	0.31835	7.591000	0.82666	2.752000	0.94435	0.555000	0.69702	GTG	.		0.532	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		T	69371417	C	T	69371417	3	4	5	1	0	0	0	0	1	0	0	0	204	536	19	1	2177	1	ACTN1	14	69371417	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4690426	69371417	37978123	424	885											
GALNTL1	57452	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	69792727	69792727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaggtcaagtgcctgcGcaatgatcggcgggaaggtg	15	11	1	1	rs138742665	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:69792727G>A	ENST00000337827.4	+	5	878	c.551G>A	c.(550-552)cGc>cAc	p.R184H	GALNT16_ENST00000448469.3_Missense_Mutation_p.R184H|GALNT16_ENST00000553669.1_Missense_Mutation_p.R184H	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	184	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AAGTGCCTGCGCAATGATCGG	0.582													G|||	4	0.000798722	8e-04	0	5008	,	,		22859	0.002		0.001	False		,,,				2504	0				p.R184H		.											.	.	0			c.G551A						.	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	127	107	113		551,551	4.8	1	14	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense	GALNTL1	NM_001168368.1,NM_020692.2	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	184/559,184/559	69792727	2,13004	2203	4300	6503	SO:0001583	missense	57452	exon5			GCCTGCGCAATGA	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.551G>A	14.37:g.69792727G>A	ENSP00000336729:p.Arg184His	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	264	14	NM_001168368	0	0	2	2	0	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.4	4.531610	0.85706	4.54E-4	0.0	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.64085	-0.08;-0.08;-0.08	5.66	4.76	0.60689	Glycosyl transferase, family 2 (1);	0.104785	0.64402	D	0.000004	T	0.61602	0.2360	M	0.74389	2.26	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.16289	0.015;0.015	T	0.63941	-0.6523	10	0.59425	D	0.04	.	13.6863	0.62517	0.0747:0.0:0.9253:0.0	.	184;184	Q8N428;Q58A55	GLTL1_HUMAN;.	H	184	ENSP00000336729:R184H;ENSP00000402970:R184H;ENSP00000451200:R184H	ENSP00000336729:R184H	R	+	2	0	GALNTL1	68862480	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.868000	0.69605	2.672000	0.90937	0.655000	0.94253	CGC	G|1.000;A|0.000		0.582	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		A	69792727	G	A	69792727	3	1	5	1	0	0	0	0	1	0	0	0	6246	1087	38	1	569	1	GALNTL1	14	69792727	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	421310	69792727	37556813	425	886											
PCNX	22990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	71575457	71575457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccaccactgggtttgtGccttgtcggcgctcttctac	10	13	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:71575457G>A	ENST00000304743.2	+	34	6884	c.6438G>A	c.(6436-6438)gtG>gtA	p.V2146V	PCNX_ENST00000238570.5_Silent_p.V2074V|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Silent_p.V2035V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2146	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGGGTTTGTGCCTTGTCGGC	0.552																																					p.V2146V		.											.	PCNX-91	0			c.G6438A						.																																			SO:0001819	synonymous_variant	22990	exon34			GTTTGTGCCTTGT	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6438G>A	14.37:g.71575457G>A		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	283	60	NM_014982	0	0	17	18	1	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	0.506	-0.868834	0.02570	.	.	ENSG00000100731	ENST00000554691	.	.	.	6.03	1.91	0.25777	.	.	.	.	.	T	0.52224	0.1721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44034	-0.9354	4	.	.	.	.	5.5906	0.17299	0.1258:0.1127:0.6448:0.1166	.	.	.	.	Y	1133	.	.	C	+	2	0	PCNX	70645210	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	3.410000	0.52664	0.877000	0.35895	-0.319000	0.08680	TGC	.		0.552	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71575457	G	A	71575457	2	1	5	1	0	0	0	0	0	0	0	1	11630	1306	46	3		3	PCNX	14	71575457	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1782730	71575457	35774083	426	887											
ACOT2	10965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	74040291	74040291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactacttgctcagtcatccCgaggttagttcttctttcag	7	11	5	0	rs376931985		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:74040291C>T	ENST00000238651.5	+	2	1025	c.843C>T	c.(841-843)ccC>ccT	p.P281P	ACOT2_ENST00000538782.1_Silent_p.P84P	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	281					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.P281P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TCAGTCATCCCGAGGTTAGTT	0.433																																					p.P281P		.											.	ACOT2-91	1	Substitution - coding silent(1)	lung(1)	c.C843T						.	T		1,4405	2.1+/-5.4	0,1,2202	182	154	163		843	-5.8	0.6	14		163	0,8600		0,0,4300	no	coding-synonymous	ACOT2	NM_006821.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		281/484	74040291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10965	exon2			TCATCCCGAGGTT	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.843C>T	14.37:g.74040291C>T		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	294	49	NM_006821	0	0	0	0	0	Q3I5F8|Q53EK4|Q9NUX4	Silent	SNP	ENST00000238651.5	37	CCDS9816.1																																																																																			.		0.433	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		T	74040291	C	T	74040291	2	4	5	1	0	0	0	0	0	0	0	1	152	639	23	1		1	ACOT2	14	74040291	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2464834	74040291	33309249	427	888											
C14orf174	161394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	77845328	77845328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccaagagttgaaggaaCgggtctctgaagatgacgaa	13	7	1	5			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:77845328C>T	ENST00000216471.4	+	1	1853	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	523										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTGAAGGAACGGGTCTCTGA	0.433																																					p.R523W		.											.	SAMD15-90	0			c.C1567T						.						90	87	88					14																	77845328		2203	4300	6503	SO:0001583	missense	161394	exon1			AAGGAACGGGTCT	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1567C>T	14.37:g.77845328C>T	ENSP00000216471:p.Arg523Trp	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	303	64	NM_001010860	0	0	1	1	0	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553524	0.27739	.	.	ENSG00000100583	ENST00000216471	T	0.18960	2.18	5.04	-0.556	0.11803	.	2.126120	0.03051	N	0.154613	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.09377	0.004	T	0.20140	-1.0284	10	0.66056	D	0.02	0.4195	0.9146	0.01301	0.3155:0.3463:0.1541:0.184	.	523	Q9P1V8	SAM15_HUMAN	W	523	ENSP00000216471:R523W	ENSP00000216471:R523W	R	+	1	2	SAMD15	76915081	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.192000	0.09587	-0.095000	0.12351	0.462000	0.41574	CGG	.		0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		T	77845328	C	T	77845328	3	4	5	1	0	0	0	0	1	0	0	0	1764	527	19	1	1569	1	C14orf174	14	77845328	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3805037	77845328	29504212	428	889											
ZC3H14	79882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	89069362	89069362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacagcagttgcacttgCtgagcaggcagcttgaggac	12	12	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:89069362C>T	ENST00000251038.5	+	12	1930	c.1705C>T	c.(1705-1707)Ctg>Ttg	p.L569L	ZC3H14_ENST00000555755.1_Silent_p.L569L|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Silent_p.L544L|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Silent_p.L271L|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	569						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTTGCACTTGCTGAGCAGGCA	0.493																																					p.L569L		.											.	ZC3H14-93	0			c.C1705T						.						132	120	124					14																	89069362		2203	4300	6503	SO:0001819	synonymous_variant	79882	exon12			CACTTGCTGAGCA	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1705C>T	14.37:g.89069362C>T		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	151	62	NM_001160104	0	0	7	13	6	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	CCDS32133.1																																																																																			.		0.493	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		T	89069362	C	T	89069362	2	4	5	1	0	0	0	0	0	0	0	1	17614	796	28	3		3	ZC3H14	14	89069362	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	11224034	89069362	18280178	429	890											
PSMC1	5700	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	90730133	90730137	+	Frame_Shift_Del	DEL	TTTCA	TTTCA	-													agaacactacgtcagcattcTttcatttgtagacaaggatc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	TTTCA	TTTCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:90730133_90730137delTTTCA	ENST00000261303.8	+	5	510_514	c.407_411delTTTCA	c.(406-411)ctttcafs	p.LS136fs	PSMC1_ENST00000543772.2_Frame_Shift_Del_p.LS63fs	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	136					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)		GTCAGCATTCTTTCATTTGTAGACA	0.493																																					p.136_137del		.											.	PSMC1-90	0			c.407_411del						.																																			SO:0001589	frameshift_variant	5700	exon5			GCATTCTTTCATT	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.407_411delTTTCA	14.37:g.90730133_90730137delTTTCA	ENSP00000261303:p.Leu136fs	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	285	62	NM_002802	0	0	0	0	0	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Frame_Shift_Del	DEL	ENST00000261303.8	37	CCDS32139.1																																																																																			.		0.493	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		-	90730137	TTTCA	-	90730133	7	5	5	1	0	1	0	1	0	0	0	0	12727	1609	56	0	425	0	PSMC1	14	90730133	Frame_Shift_Del	DEL	TTTCA	TCGA-OR-A5J5-01A-11D-A29I-10	1660771	90730133	16619407	430	891											
PPP4R4	57718	broad.mit.edu;ucsc.edu	37	chr14	94741742	94741742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggactcgtaatgccagtagCgttccatcttccttttctcc	7	14	2	0	rs114442446		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:94741742C>T	ENST00000304338.3	+	24	2635	c.2481C>T	c.(2479-2481)agC>agT	p.S827S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	827					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATGCCAGTAGCGTTCCATCTT	0.418																																					p.S827S		.											.	PPP4R4-94	0			c.C2481T						.						255	241	246					14																	94741742		2203	4300	6503	SO:0001819	synonymous_variant	57718	exon24			CAGTAGCGTTCCA	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2481C>T	14.37:g.94741742C>T		Somatic	132	2		WXS	Illumina GAIIx	Phase_I	209	32	NM_058237	0	0	0	0	0	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																			C|0.999;A|0.001		0.418	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		T	94741742	C	T	94741742	2	4	5	1	0	0	0	0	0	0	0	1	12447	767	27	1		1	PPP4R4	14	94741742	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4011609	94741742	12607798	431	892											
C14orf49	161176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95884311	95884311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagctgcagtgggagcGccacacagcacgccctccgg	14	15	0	0	rs142276866		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:95884311G>A	ENST00000334258.5	-	17	2794	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V	SYNE3_ENST00000554873.1_Missense_Mutation_p.A684V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A922V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	927	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						cagtgggagcGCCACACAGCA	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		14739	0		0	False		,,,				2504	0				p.A927V		.											.	.	0			c.C2780T						.	G	VAL/ALA	7,4399	14.3+/-33.2	0,7,2196	66	58	61		2780	4.7	0.9	14	dbSNP_134	61	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	927/976	95884311	7,12999	2203	4300	6503	SO:0001583	missense	161176	exon17			GGGAGCGCCACAC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2780C>T	14.37:g.95884311G>A	ENSP00000334308:p.Ala927Val	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	182	81	NM_152592	0	0	0	0	0	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.94	3.920173	0.73098	0.001589	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.35421	1.31;1.31;1.31	4.67	4.67	0.58626	Klarsicht/ANC-1/syne-1 homology (2);	0.000000	0.36854	U	0.002364	T	0.49643	0.1569	M	0.87180	2.865	0.80722	D	1	P;P	0.39624	0.63;0.681	B;B	0.40256	0.217;0.324	T	0.63042	-0.6725	10	0.72032	D	0.01	-10.8223	17.1517	0.86780	0.0:0.0:1.0:0.0	.	922;927	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	V	927;684;922	ENSP00000334308:A927V;ENSP00000452154:A684V;ENSP00000450562:A922V	ENSP00000334308:A927V	A	-	2	0	C14orf49	94954064	1.000000	0.71417	0.881000	0.34555	0.915000	0.54546	6.435000	0.73412	2.144000	0.66660	0.289000	0.19496	GCG	G|1.000;A|0.000		0.657	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95884311	G	A	95884311	3	1	5	1	0	0	0	0	1	0	0	0	1781	1087	38	1	151	1	C14orf49	14	95884311	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1142569	95884311	11465229	432	893											
DEGS2	123099	hgsc.bcm.edu	37	chr14	100615855	100615855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgaaggccgcgttgtgcGagatgtcgtggatggccagc	17	10	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:100615855G>A	ENST00000305631.5	-	2	850	c.275C>T	c.(274-276)tCg>tTg	p.S92L	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CGCGTTGTGCGAGATGTCGTG	0.697																																					p.S92L		.											.	DEGS2-90	0			c.C275T						.						25	25	25					14																	100615855		2191	4292	6483	SO:0001583	missense	123099	exon2			TTGTGCGAGATGT		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.275C>T	14.37:g.100615855G>A	ENSP00000307126:p.Ser92Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	39	4	NM_206918	0	0	0	0	0		Missense_Mutation	SNP	ENST00000305631.5	37	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299912	0.81136	.	.	ENSG00000168350	ENST00000305631	T	0.15718	2.4	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72510	-0.4271	10	0.72032	D	0.01	-12.7036	17.3127	0.87214	0.0:0.0:1.0:0.0	.	92	Q6QHC5	DEGS2_HUMAN	L	92	ENSP00000307126:S92L	ENSP00000307126:S92L	S	-	2	0	DEGS2	99685608	1.000000	0.71417	0.940000	0.37924	0.409000	0.31022	9.748000	0.98867	2.154000	0.67381	0.561000	0.74099	TCG	.		0.697	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		A	100615855	G	A	100615855	3	1	5	1	0	0	0	0	1	0	0	0	4437	1059	37	1	704	1	DEGS2	14	100615855	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4731544	100615855	6733685	433	894											
ZNF839	55778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102793112	102793112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaccctccgggggtgcaCggaggaaaggacgctcagcc	15	13	1	0	rs547521174	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:102793112C>T	ENST00000558850.1	+	2	1081	c.731C>T	c.(730-732)aCg>aTg	p.T244M	ZNF839_ENST00000559185.1_Missense_Mutation_p.T244M|ZNF839_ENST00000442396.2_Missense_Mutation_p.T360M|ZNF839_ENST00000262236.5_Missense_Mutation_p.T244M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	244							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						CGGGGGTGCACGGAGGAAAGG	0.632													C|||	6	0.00119808	0	0	5008	,	,		15834	0.005		0.001	False		,,,				2504	0				p.T360M		.											.	ZNF839-91	0			c.C1079T						.						19	20	20					14																	102793112		1969	4158	6127	SO:0001583	missense	55778	exon2			GGTGCACGGAGGA	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.731C>T	14.37:g.102793112C>T	ENSP00000453363:p.Thr244Met	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	145	68	NM_018335	0	0	1	3	2	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154121	0.38021	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42900	0.96;0.96	4.1	-5.93	0.02254	.	.	.	.	.	T	0.20700	0.0498	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.29862	0.259;0.109;0.109;0.109	B;B;B;B	0.14578	0.011;0.007;0.01;0.007	T	0.09862	-1.0655	9	0.48119	T	0.1	.	4.5163	0.11937	0.2421:0.2868:0.0:0.4712	.	360;244;123;244	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	360;244	ENSP00000399863:T360M;ENSP00000262236:T244M	ENSP00000262236:T244M	T	+	2	0	ZNF839	101862865	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.511000	0.00958	-1.347000	0.02208	-0.302000	0.09304	ACG	.		0.632	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		T	102793112	C	T	102793112	3	4	5	1	0	0	0	0	1	0	0	0	18236	536	19	1	1085	1	ZNF839	14	102793112	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2177257	102793112	4556428	434	895											
PPP1R13B	23368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	104205313	104205313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaccggactctcagcccGtgccccgtccgctccgagtt	9	17	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:104205313G>A	ENST00000202556.9	-	13	2922	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.H299H	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	880					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)				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)				CTCTCAGCCCGTGCCCCGTCC	0.557																																					p.H880H		.											.	PPP1R13B-227	0			c.C2640T						.						109	118	115					14																	104205313		1993	4167	6160	SO:0001819	synonymous_variant	23368	exon13			CAGCCCGTGCCCC	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.2640C>T	14.37:g.104205313G>A		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	160	82	NM_015316	0	0	6	21	15	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	CCDS41997.1																																																																																			.		0.557	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		A	104205313	G	A	104205313	2	1	5	1	0	0	0	0	0	0	0	1	12399	1136	40	1		1	PPP1R13B	14	104205313	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1412201	104205313	3144227	435	896											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104642489	104642489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggtcagcgtctgcactGccgacagccgtgaccccacg	13	16	2	1	rs117573425	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr14:104642489G>T	ENST00000423312.2	+	12	3364	c.3364G>T	c.(3364-3366)Gcc>Tcc	p.A1122S	KIF26A_ENST00000315264.7_Missense_Mutation_p.A983S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTCTGCACTGCCGACAGCCG	0.736													G|||	127	0.0253594	8e-04	0.0245	5008	,	,		12093	0.001		0.0328	False		,,,				2504	0.0767				p.A1122S		.											.	KIF26A-24	0			c.G3364T						.	G	SER/ALA	28,3808		0,28,1890	4	6	5		3364	0.2	0	14	dbSNP_132	5	273,7813		1,271,3771	yes	missense	KIF26A	NM_015656.1	99	1,299,5661	TT,TG,GG		3.3762,0.7299,2.5247	benign	1122/1883	104642489	301,11621	1918	4043	5961	SO:0001583	missense	26153	exon12			TGCACTGCCGACA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3364G>T	14.37:g.104642489G>T	ENSP00000388241:p.Ala1122Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	17	NM_015656	0	0	5	9	4	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	CCDS45171.1	37	0.01694139194139194	2	0.0040650406504065045	6	0.016574585635359115	5	0.008741258741258742	24	0.0316622691292876	G	0.014	-1.598065	0.00857	0.007299	0.033762	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78003	-1.14;-1.14	3.58	0.221	0.15283	.	.	.	.	.	T	0.25865	0.0630	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14504	-1.0470	9	0.10636	T	0.68	.	0.0959	0.00044	0.2731:0.248:0.2329:0.2461	.	1122	Q9ULI4	KI26A_HUMAN	S	1122;983	ENSP00000388241:A1122S;ENSP00000325452:A983S	ENSP00000325452:A983S	A	+	1	0	KIF26A	103712242	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.235000	0.09016	0.195000	0.20347	0.313000	0.20887	GCC	G|0.982;T|0.018		0.736	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104642489	G	T	104642489	3	4	5	1	0	0	0	0	1	0	0	0	8321	1319	46	3	3410	3	KIF26A	14	104642489	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	437176	104642489	2707051	436	897											
CASC5	57082	bcgsc.ca	37	chr15	40914772	40914772	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaacaaagagccacactgtCgtcattggatttggtccttc	8	11	1	1	rs11855334	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:40914772C>T	ENST00000346991.5	+	11	2778	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Silent_p.V770V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	796					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V796V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCCACACTGTCGTCATTGGAT	0.388													T|||	1757	0.350839	0.348	0.3285	5008	,	,		21039	0.254		0.3986	False		,,,				2504	0.4213				p.V796V		.											.	CASC5-660	1	Substitution - coding silent(1)	stomach(1)	c.C2388T						.	T	,	1367,2429		266,835,797	75	67	69		2310,2388	3.6	0.8	15	dbSNP_120	69	3321,4907		682,1957,1475	no	coding-synonymous,coding-synonymous	CASC5	NM_144508.3,NM_170589.3	,	948,2792,2272	TT,TC,CC		40.3622,36.0116,38.9887	,	770/2317,796/2343	40914772	4688,7336	1898	4114	6012	SO:0001819	synonymous_variant	57082	exon11			CACTGTCGTCATT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2388C>T	15.37:g.40914772C>T		Somatic	272	4		WXS	Illumina GAIIx	Phase_I	199	7	NM_170589	0	0	0	0	0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																			C|0.632;T|0.368		0.388	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40914772	C	T	40914772	2	4	5	1	0	0	0	0	0	0	0	1	2670	871	31	1		1	CASC5	15	40914772	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		40914772	61616620	437	898											
LACTB	114294	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	63433897	63433897	+	Frame_Shift_Del	DEL	C	C	-													agactataaataacaaggttCccccaagaggaatcattgtt							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:63433897delC	ENST00000261893.4	+	6	1609	c.1537delC	c.(1537-1539)cccfs	p.P514fs	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	514						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TAACAAGGTTCCCCCAAGAGG	0.443																																					p.P513fs	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.1537delC						.						55	51	53					15																	63433897		2203	4300	6503	SO:0001589	frameshift_variant	114294	exon6			AAGGTTCCCCCAA	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1537delC	15.37:g.63433897delC	ENSP00000261893:p.Pro514fs	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	76	32	NM_032857	0	0	0	0	0	P83096	Frame_Shift_Del	DEL	ENST00000261893.4	37	CCDS10182.1																																																																																			.		0.443	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		-	63433897	C	-	63433897	7	5	5	1	0	1	0	1	0	0	0	0	8625	855	30	0	1563	0	LACTB	15	63433897	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	22519125	63433897	39097495	438	899											
ACSBG1	23205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	78466041	78466041	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctccggatcccctcttcGatggcctggtacacggcctc	9	18	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:78466041G>A	ENST00000258873.4	-	13	2188	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	ACSBG1_ENST00000541759.1_Silent_p.I419I|ACSBG1_ENST00000560817.1_Silent_p.I419I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	661					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCCCTCTTCGATGGCCTGGT	0.582																																					p.I661I		.											.	ACSBG1-91	0			c.C1983T						.						114	92	99					15																	78466041		2196	4293	6489	SO:0001819	synonymous_variant	23205	exon13			CTCTTCGATGGCC	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1983C>T	15.37:g.78466041G>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	78	35	NM_015162	0	0	0	0	0	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																			.		0.582	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		A	78466041	G	A	78466041	2	1	5	1	0	0	0	0	0	0	0	1	173	1048	37	1		1	ACSBG1	15	78466041	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	15032144	78466041	24065351	439	900											
AP3B2	8120	bcgsc.ca	37	chr15	83328678	83328678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacaatgtggtcactcCgacaggtgtctggcagcatg	12	12	2	0	rs200505090		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:83328678C>T	ENST00000261722.3	-	25	3224	c.3017G>A	c.(3016-3018)cGg>cAg	p.R1006Q	AP3B2_ENST00000535359.1_Missense_Mutation_p.R1025Q|AP3B2_ENST00000535348.1_Missense_Mutation_p.R974Q|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1006					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGGTCACTCCGACAGGTGTC	0.542																																					p.R1006Q		.											.	AP3B2-94	0			c.G3017A						.	C	GLN/ARG	0,4128		0,0,2064	127	116	119		3017	1.9	1	15		119	1,8413		0,1,4206	yes	missense	AP3B2	NM_004644.3	43	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	benign	1006/1083	83328678	1,12541	2064	4207	6271	SO:0001583	missense	8120	exon25			TCACTCCGACAGG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3017G>A	15.37:g.83328678C>T	ENSP00000261722:p.Arg1006Gln	Somatic	149	2		WXS	Illumina GAIIx	Phase_I	131	38	NM_004644	0	0	2	2	0	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292212	0.23564	0.0	1.19E-4	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.53423	0.62;0.62;0.62	5.13	1.94	0.25998	.	0.288335	0.33732	N	0.004613	T	0.30103	0.0754	L	0.44542	1.39	0.28607	N	0.908871	B;B;B	0.31077	0.307;0.001;0.001	B;B;B	0.23716	0.048;0.001;0.001	T	0.15321	-1.0441	10	0.13108	T	0.6	-19.0326	6.8286	0.23897	0.0:0.5669:0.133:0.3002	.	974;1025;1006	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	Q	1006;974;1025	ENSP00000261722:R1006Q;ENSP00000438721:R974Q;ENSP00000440984:R1025Q	ENSP00000261722:R1006Q	R	-	2	0	AP3B2	81125733	0.001000	0.12720	0.997000	0.53966	0.584000	0.36387	-0.156000	0.10100	0.568000	0.29311	0.462000	0.41574	CGG	.		0.542	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			T	83328678	C	T	83328678	3	4	5	1	0	0	0	0	1	0	0	0	745	652	23	1	239	1	AP3B2	15	83328678	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4862637	83328678	19202714	440	901											
BNC1	646	broad.mit.edu	37	chr15	83932513	83932513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgctacctcggcaggcGtggctggactgcggtagaaa	15	9	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:83932513G>A	ENST00000345382.2	-	4	1575	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T490M	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	497					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCGGCAGGCGTGGCTGGACT	0.517																																					p.T497M		.											.	BNC1-93	0			c.C1490T						.						67	58	61					15																	83932513		2203	4300	6503	SO:0001583	missense	646	exon4			GCAGGCGTGGCTG	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.1490C>T	15.37:g.83932513G>A	ENSP00000307041:p.Thr497Met	Somatic	282	0		WXS	Illumina GAIIx	Phase_I	219	6	NM_001717	0	0	0	0	0	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814792	0.70912	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.53640	0.61	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	T	0.73164	-0.4069	10	0.87932	D	0	-21.5415	19.4213	0.94723	0.0:0.0:1.0:0.0	.	490;497	F5GY04;Q01954	.;BNC1_HUMAN	M	497;490	ENSP00000307041:T497M	ENSP00000307041:T497M	T	-	2	0	BNC1	81723517	1.000000	0.71417	0.973000	0.42090	0.890000	0.51754	9.787000	0.99055	2.589000	0.87451	0.655000	0.94253	ACG	.		0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		A	83932513	G	A	83932513	3	1	5	1	0	0	0	0	1	0	0	0	1476	1145	40	1	1502	1	BNC1	15	83932513	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	603835	83932513	18598879	441	902											
ACAN	176	bcgsc.ca	37	chr15	89398631	89398631	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacggttggtgaactgcccTctggagctgagatcctagag	13	10	1	3	rs938609	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:89398631T>A	ENST00000561243.1	+	11	2815	c.2815T>A	c.(2815-2817)Tct>Act	p.S939T	ACAN_ENST00000439576.2_Missense_Mutation_p.S939T|ACAN_ENST00000352105.7_Missense_Mutation_p.S939T|ACAN_ENST00000559004.1_Missense_Mutation_p.S939T			P16112	PGCA_HUMAN	aggrecan	938	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S939T(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAACTGCCCTCTGGAGCTGA	0.562													T|||	1964	0.392173	0.3389	0.3804	5008	,	,		19067	0.2073		0.6521	False		,,,				2504	0.3957				p.S939T		.											.	ACAN-25	1	Substitution - Missense(1)	stomach(1)	c.T2815A						.	T	THR/SER,THR/SER	1491,2313		281,929,692	54	59	57		2815,2815	1.2	0.2	15	dbSNP_86	57	5335,2901		1718,1899,501	yes	missense,missense	ACAN	NM_001135.3,NM_013227.3	58,58	1999,2828,1193	AA,AT,TT		35.2234,39.1956,43.3056	probably-damaging,probably-damaging	939/2432,939/2531	89398631	6826,5214	1902	4118	6020	SO:0001583	missense	176	exon12			CTGCCCTCTGGAG	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.2815T>A	15.37:g.89398631T>A	ENSP00000453342:p.Ser939Thr	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	929	0.42536630036630035	156	0.3170731707317073	166	0.4585635359116022	101	0.17657342657342656	506	0.6675461741424802	T	14.92	2.678067	0.47886	0.391956	0.647766	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97186	-4.28;-4.28	4.89	1.18	0.20946	.	.	.	.	.	T	0.00012	0.0000	M	0.63843	1.955	0.58432	P	5.000000000032756E-6	D;D	0.63046	0.992;0.992	P;P	0.55577	0.779;0.779	T	0.45056	-0.9287	8	0.18276	T	0.48	-0.2641	4.2498	0.10689	0.3539:0.0882:0.0:0.558	rs938609;rs17790663;rs938609	939;939	E7ENV9;E7EX88	.;.	T	939	ENSP00000387356:S939T;ENSP00000341615:S939T	ENSP00000268134:S939T	S	+	1	0	ACAN	87199635	0.000000	0.05858	0.188000	0.23233	0.595000	0.36748	-0.086000	0.11233	0.018000	0.15052	0.460000	0.39030	TCT	T|0.540;A|0.460		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398631	T	A	89398631	3	1	5	1	0	0	0	0	1	0	0	0	117	1551	54	5	2857	5	ACAN	15	89398631	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	5466118	89398631	13132761	442	903											
CRTC3	64784	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	91184391	91184391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatttgagaccaagcccGtattccaactgcgggagtct	9	11	2	1	rs370456941		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr15:91184391G>A	ENST00000268184.6	+	14	1615	c.1611G>A	c.(1609-1611)ccG>ccA	p.P537P	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.P537P			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	537					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GACCAAGCCCGTATTCCAACT	0.522			T	MAML2	salivary gland mucoepidermoid																																p.P537P		.		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	CRTC3-393	0			c.G1611A						.	G	,	1,4395	2.1+/-5.4	0,1,2197	103	85	91		1611,1611	0.7	1	15		91	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CRTC3	NM_001042574.1,NM_022769.3	,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,	537/619,537/620	91184391	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	64784	exon14			AAGCCCGTATTCC		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1611G>A	15.37:g.91184391G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	110	45	NM_022769	0	0	4	7	3	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	CCDS32331.1																																																																																			.		0.522	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		A	91184391	G	A	91184391	2	1	5	1	0	0	0	0	0	0	0	1	3908	1132	40	1		1	CRTC3	15	91184391	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1785760	91184391	11347001	443	904											
SSTR5	6755	hgsc.bcm.edu	37	chr16	1129594	1129594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgtgcggcggcgctcGgagcggaaggtgacgcgcat	20	11	0	1	rs201314089|rs34388156	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1129594G>A	ENST00000293897.4	+	1	814	c.726G>A	c.(724-726)tcG>tcA	p.S242S	SSTR5_ENST00000397547.2_Silent_p.S242S|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	242					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGCGGCGCTCGGAGCGGAAGG	0.667													G|||	10	0.00199681	8e-04	0	5008	,	,		13320	0.0089		0	False		,,,				2504	0				p.S242S		.											.	SSTR5-522	0			c.G726A						.	G	,	0,4382		0,0,2191	144	127	133		726,726	-9.5	0.8	16		133	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6486	AA,AG,GG		0.0116,0.0,0.0077	,	242/365,242/365	1129594	1,12973	2191	4296	6487	SO:0001819	synonymous_variant	6755	exon2			GCGCTCGGAGCGG	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.726G>A	16.37:g.1129594G>A		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	55	14	NM_001172560	0	0	0	0	0	P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	CCDS10429.1																																																																																			G|0.999;A|0.001		0.667	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			A	1129594	G	A	1129594	2	1	5	1	0	0	0	0	0	0	0	1	15248	1103	39	1		1	SSTR5	16	1129594	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		1129594	89225159	444	905											
BAIAP3	8938	broad.mit.edu;bcgsc.ca	37	chr16	1393394	1393394	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgggccgggccccacagGcactggcaggtcagcagccg	15	16	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1393394G>A	ENST00000324385.5	+	15	1529	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	BAIAP3_ENST00000568887.1_Splice_Site_p.L394L|BAIAP3_ENST00000562208.1_Splice_Site_p.L399L|BAIAP3_ENST00000426824.3_Splice_Site_p.L422L|BAIAP3_ENST00000397488.2_Splice_Site_p.L439L|BAIAP3_ENST00000397489.1_Splice_Site_p.L439L|BAIAP3_ENST00000421665.2_Splice_Site_p.L386L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	457					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)				GGCCCCACAGGCACTGGCAGG	0.642																																					p.L457L		.											.	BAIAP3-91	0			c.G1371A						.						11	12	11					16																	1393394		2150	4247	6397	SO:0001630	splice_region_variant	8938	exon15			CCACAGGCACTGG	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.1371-1G>A	16.37:g.1393394G>A		Somatic	60	1		WXS	Illumina GAIIx	Phase_I	264	132	NM_003933	0	0	0	0	0	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																			.		0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		Silent	A	1393394	G	A	1393394	5	1	5	1	0	0	0	0	0	0	1	0	1305	1217	42	3	1429	3	BAIAP3	16	1393394	Splice_Site	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	263800	1393394	88961359	445	906											
IGFALS	3483	hgsc.bcm.edu	37	chr16	1841949	1841949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctccagcctgctcagaCggttgttgctgaggccgagc	13	14	1	2	rs199977317		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:1841949C>T	ENST00000215539.3	-	2	580	c.470G>A	c.(469-471)cGt>cAt	p.R157H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R195H|IGFALS_ENST00000568221.1_3'UTR			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	157					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCTGCTCAGACGGTTGTTGCT	0.687													C|||	1	0.000199681	0	0	5008	,	,		14550	0.001		0	False		,,,				2504	0				p.R195H		.											.	IGFALS-90	0			c.G584A						.						18	16	17					16																	1841949		2186	4290	6476	SO:0001583	missense	3483	exon2			CTCAGACGGTTGT	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.470G>A	16.37:g.1841949C>T	ENSP00000215539:p.Arg157His	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	109	74	NM_001146006	0	0	0	0	0	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.925	-0.714681	0.03206	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.80480	-1.38;-1.38	5.09	-0.192	0.13248	.	0.625226	0.15932	N	0.237619	T	0.65186	0.2667	L	0.33624	1.015	0.27608	N	0.948764	B;B	0.17268	0.021;0.01	B;B	0.14023	0.01;0.003	T	0.50759	-0.8790	10	0.27785	T	0.31	.	5.9819	0.19411	0.5195:0.2384:0.0:0.2421	.	195;157	E9PGU3;P35858	.;ALS_HUMAN	H	157;195	ENSP00000215539:R157H;ENSP00000416683:R195H	ENSP00000215539:R157H	R	-	2	0	IGFALS	1781950	0.216000	0.23585	0.533000	0.28001	0.088000	0.18126	0.677000	0.25262	0.254000	0.21573	-0.425000	0.05940	CGT	C|0.999;T|0.000		0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			T	1841949	C	T	1841949	3	4	5	1	0	0	0	0	1	0	0	0	7604	536	19	1	1351	1	IGFALS	16	1841949	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	448555	1841949	88512804	446	907											
TBL3	10607	hgsc.bcm.edu	37	chr16	2025627	2025627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccactgcaccctggcAcacaccgccggcgtggtcct	10	19	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2025627A>G	ENST00000568546.1	+	10	1031	c.903A>G	c.(901-903)gcA>gcG	p.A301A		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	301					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCACCCTGGCACACACCGCCG	0.687																																					p.A301A	Melanoma(118;616 1651 35077 38081 48633)	.											.	TBL3-90	0			c.A903G						.						24	25	25					16																	2025627		2197	4295	6492	SO:0001819	synonymous_variant	10607	exon10			CCTGGCACACACC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.903A>G	16.37:g.2025627A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	20	NM_006453	0	0	5	8	3	Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	CCDS10453.1																																																																																			.		0.687	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		G	2025627	A	G	2025627	2	3	5	1	0	0	0	0	0	0	0	1	15690	146	6	4		4	TBL3	16	2025627	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	183678	2025627	88329126	447	908											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_178167	0	0	0	2	2	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	5	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	34047	2059674	88295079	448	909											
PRSS27	83886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2763556	2763556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatccttcttgccctcctCgaagccggcgcacagcatgt	10	16	1	0	rs149957191	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:2763556C>T	ENST00000302641.3	-	5	706	c.652G>A	c.(652-654)Gag>Aag	p.E218K	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCCTCCTCGAAGCCGGCG	0.592																																					p.E218K		.											.	PRSS27-91	0			c.G652A						.	C	LYS/GLU	0,4396		0,0,2198	235	167	190		652	5.3	0.2	16	dbSNP_134	190	7,8593		1,5,4294	yes	missense	PRSS27	NM_031948.3	56	1,5,6492	TT,TC,CC		0.0814,0.0,0.0539	benign	218/291	2763556	7,12989	2198	4300	6498	SO:0001583	missense	83886	exon5			CCTCCTCGAAGCC	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.652G>A	16.37:g.2763556C>T	ENSP00000306390:p.Glu218Lys	Somatic	211	1		WXS	Illumina GAIIx	Phase_I	358	134	NM_031948	0	0	4	4	0		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.559175	0.00910	0.0	8.14E-4	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.88201	-2.35	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242364	0.28877	N	0.013852	T	0.76026	0.3930	L	0.33189	0.99	0.09310	N	1	P;P	0.43412	0.557;0.806	B;B	0.31337	0.065;0.128	T	0.68765	-0.5322	10	0.06099	T	0.92	.	9.9045	0.41368	0.0:0.907:0.0:0.093	.	218;182	Q9BQR3;B3KP25	PRS27_HUMAN;.	K	218;182	ENSP00000306390:E218K	ENSP00000306390:E218K	E	-	1	0	PRSS27	2703557	0.001000	0.12720	0.153000	0.22517	0.056000	0.15407	1.311000	0.33562	2.460000	0.83146	0.442000	0.29010	GAG	C|0.999;T|0.001		0.592	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		T	2763556	C	T	2763556	3	4	5	1	0	0	0	0	1	0	0	0	12663	893	31	1	228	1	PRSS27	16	2763556	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	703882	2763556	87591197	449	910											
HMOX2	3163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	4558130	4558130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccgggccaggatgaaCgccctggacctgaacatgaa	11	13	1	3	rs186971432		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:4558130C>T	ENST00000570646.1	+	4	1226	c.621C>T	c.(619-621)aaC>aaT	p.N207N	HMOX2_ENST00000219700.6_Silent_p.N207N|HMOX2_ENST00000406590.2_Silent_p.N207N|HMOX2_ENST00000458134.3_Silent_p.N207N|HMOX2_ENST00000414777.1_Silent_p.N207N|HMOX2_ENST00000398595.3_Silent_p.N207N|HMOX2_ENST00000575120.1_Silent_p.N178N	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	207					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAGGATGAACGCCCTGGACC	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		21471	0		0	False		,,,				2504	0				p.N207N		.											.	HMOX2-90	0			c.C621T						.						69	66	67					16																	4558130		2197	4300	6497	SO:0001819	synonymous_variant	3163	exon4			GATGAACGCCCTG		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.621C>T	16.37:g.4558130C>T		Somatic	497	2		WXS	Illumina GAIIx	Phase_I	724	294	NM_001127205	0	0	36	64	28	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	CCDS10517.1																																																																																			C|0.999;T|0.000		0.542	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			T	4558130	C	T	4558130	2	4	5	1	0	0	0	0	0	0	0	1	7271	535	19	1		1	HMOX2	16	4558130	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1794574	4558130	85796623	450	911											
SYT17	51760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	19194969	19194969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagacggacctataaccccGacgactatttcaggaagttc	8	12	2	1	rs371789759		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:19194969G>A	ENST00000355377.2	+	5	849	c.451G>A	c.(451-453)Gac>Aac	p.D151N	SYT17_ENST00000562711.2_Missense_Mutation_p.D147N|SYT17_ENST00000568115.1_Missense_Mutation_p.D90N|SYT17_ENST00000562034.1_Missense_Mutation_p.D90N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	151					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTATAACCCCGACGACTATTT	0.537																																					p.D151N		.											.	SYT17-69	0			c.G451A						.		ASN/ASP	1,4393	2.1+/-5.4	0,1,2196	87	78	81		451	5.5	0.6	16		81	0,8600		0,0,4300	no	missense	SYT17	NM_016524.2	23	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	151/475	19194969	1,12993	2197	4300	6497	SO:0001583	missense	51760	exon5			AACCCCGACGACT		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.451G>A	16.37:g.19194969G>A	ENSP00000347538:p.Asp151Asn	Somatic	146	2		WXS	Illumina GAIIx	Phase_I	299	144	NM_016524	0	0	0	6	6	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	18.89	3.718613	0.68844	2.28E-4	0.0	ENSG00000103528	ENST00000355377	T	0.18960	2.18	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.14098	0.0341	L	0.27053	0.805	0.80722	D	1	P;P	0.48640	0.553;0.913	B;B	0.31191	0.037;0.125	T	0.04737	-1.0930	10	0.35671	T	0.21	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	151;90	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	151	ENSP00000347538:D151N	ENSP00000347538:D151N	D	+	1	0	SYT17	19102470	1.000000	0.71417	0.648000	0.29521	0.845000	0.48019	7.206000	0.77891	2.573000	0.86826	0.556000	0.70494	GAC	.		0.537	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		A	19194969	G	A	19194969	3	1	5	1	0	0	0	0	1	0	0	0	15520	1058	37	1	469	1	SYT17	16	19194969	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	14636839	19194969	71159784	451	912											
TMC5	79838	broad.mit.edu	37	chr16	19452014	19452015	+	Frame_Shift_Ins	INS	-	-	T													ttcaacctaactctccacccINSttttttggggagccagacta							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:19452014_19452015insT	ENST00000396229.2	+	3	1403_1404	c.654_655insT	c.(655-657)tttfs	p.F219fs	TMC5_ENST00000381414.4_Frame_Shift_Ins_p.F219fs|TMC5_ENST00000541464.1_Frame_Shift_Ins_p.F219fs|TMC5_ENST00000542583.2_Frame_Shift_Ins_p.F219fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	219					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCTCCACCCTTTTTTGGGGA	0.446																																					p.P218fs		.											.	TMC5-91	0			c.654_655insT						.																																			SO:0001589	frameshift_variant	79838	exon3			TCCACCCTTTTTT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.660dupT	16.37:g.19452020_19452020dupT	ENSP00000379531:p.Phe219fs	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	233	9	NM_001105249	0	0	0	0	0	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Frame_Shift_Ins	INS	ENST00000396229.2	37	CCDS45431.1																																																																																			.		0.446	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19452015	-	T	19452014	7	5	5	1	0	1	1	0	0	0	0	0	16035	668	24	0	656	0	TMC5	16	19452014	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	257045	19452014	70902739	452	913											
ARHGAP17	55114	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24950845	24950845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaagtggcggctggaaagCgggggatatgtgctttctat	17	6	1	0	rs145791095	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:24950845C>T	ENST00000289968.6	-	17	1633	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	522	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCTGGAAAGCGGGGGATATG	0.602													C|||	24	0.00479233	0	0.0014	5008	,	,		14811	0.001		0.002	False		,,,				2504	0.0204				p.A522T		.											.	ARHGAP17-227	0			c.G1564A						.	C	THR/ALA,	4,4386		0,4,2191	22	26	25		1564,	3	0.7	16	dbSNP_134	25	51,8547		0,51,4248	yes	missense,intron	ARHGAP17	NM_001006634.1,NM_018054.4	58,	0,55,6439	TT,TC,CC		0.5932,0.0911,0.4235	benign,	522/882,	24950845	55,12933	2195	4299	6494	SO:0001583	missense	55114	exon17			GGAAAGCGGGGGA	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1564G>A	16.37:g.24950845C>T	ENSP00000289968:p.Ala522Thr	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	110	53	NM_001006634	0	0	3	4	1	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	13.49	2.253426	0.39797	9.11E-4	0.005932	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.21932	1.98	5.0	3.05	0.35203	.	0.000000	0.44097	D	0.000482	T	0.12817	0.0311	L	0.57536	1.79	0.80722	D	1	B;B	0.26577	0.112;0.153	B;B	0.23419	0.01;0.046	T	0.04650	-1.0936	10	0.25106	T	0.35	.	6.9887	0.24743	0.0:0.7263:0.0:0.2737	.	522;55	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	T	522	ENSP00000289968:A522T	ENSP00000289968:A522T	A	-	1	0	ARHGAP17	24858346	0.990000	0.36364	0.654000	0.29608	0.914000	0.54420	2.859000	0.48364	0.697000	0.31718	0.655000	0.94253	GCT	C|0.997;T|0.003		0.602	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		T	24950845	C	T	24950845	3	4	5	1	0	0	0	0	1	0	0	0	867	768	27	1	1097	1	ARHGAP17	16	24950845	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5498831	24950845	65403908	453	914											
LCMT1	51451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	25151548	25151548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactttccaatgattgtcacGagaaagctgcacagtatcaa	8	9	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:25151548G>A	ENST00000399069.3	+	4	539	c.384G>A	c.(382-384)acG>acA	p.T128T	RP11-266L9.2_ENST00000562280.1_RNA|RP11-266L9.2_ENST00000565214.1_RNA|LCMT1_ENST00000380966.4_Silent_p.T128T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	128					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TGATTGTCACGAGAAAGCTGC	0.403																																					p.T128T	Colon(200;565 2072 24396 47922 50898)	.											.	LCMT1-22	0			c.G384A						.						91	82	85					16																	25151548		1885	4113	5998	SO:0001819	synonymous_variant	51451	exon4			TGTCACGAGAAAG	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.384G>A	16.37:g.25151548G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	142	62	NM_016309	0	0	11	16	5	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	CCDS45445.1																																																																																			.		0.403	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		A	25151548	G	A	25151548	2	1	5	1	0	0	0	0	0	0	0	1	8706	1045	37	1		1	LCMT1	16	25151548	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	200703	25151548	65203205	454	915											
KIAA0556	23247	broad.mit.edu;bcgsc.ca	37	chr16	27782957	27782957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatggactacgaggcaccGctgatgccctgtggctgtat	13	11	0	1	rs202124589		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607													G|||	1	0.000199681	0	0	5008	,	,		18869	0.001		0	False		,,,				2504	0				p.P1394P		.											.	KIAA0556-141	4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	c.G4182A						.						161	126	138					16																	27782957		2197	4300	6497	SO:0001819	synonymous_variant	23247	exon22			GGCACCGCTGATG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4182G>A	16.37:g.27782957G>A		Somatic	102	1		WXS	Illumina GAIIx	Phase_I	156	31	NM_015202	0	0	0	0	0	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																			G|0.999;A|0.000		0.607	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27782957	G	A	27782957	2	1	5	1	0	0	0	0	0	0	0	1	8210	1074	38	1		1	KIAA0556	16	27782957	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2631409	27782957	62571796	455	916											
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-													tgcacccaccccagagtcatGgggggcccccccaaggcgcg							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:28847350delG	ENST00000336783.4	+	22	3159	c.2992delG	c.(2992-2994)gggfs	p.G999fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	999					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGAGTCATGGGGGGCCCCC	0.682																																					p.G998fs		.											.	ATXN2L-92	0			c.2992delG						.		,,,,	15,4019		5,5,2007	31	40	37		,,,,	4.8	1	16		37	7,7989		1,5,3992	no	frameshift,frameshift,frameshift,frameshift,frameshift	ATXN2L	NM_148416.1,NM_148415.1,NM_148414.1,NM_145714.1,NM_007245.2	,,,,	6,10,5999	A1A1,A1R,RR		0.0875,0.3718,0.1829	,,,,	,,,,	28847350	22,12008	2119	4220	6339	SO:0001589	frameshift_variant	11273	exon22			AGTCATGGGGGGC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2992delG	16.37:g.28847350delG	ENSP00000338718:p.Gly999fs	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	35	12	NM_148414	0	0	0	0	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	CCDS10641.1																																																																																			.		0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		-	28847350	G	-	28847350	7	5	5	1	0	1	0	1	0	0	0	0	1213	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	1064393	28847350	61507403	456	917											
TAOK2	9344	broad.mit.edu;bcgsc.ca	37	chr16	29994575	29994575	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagaaggcccTgaagcccgggagatggccat	18	8	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:29994575T>C	ENST00000308893.4	+	12	2225	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	TAOK2_ENST00000543033.1_Silent_p.P394P|TAOK2_ENST00000416441.2_Silent_p.P221P|TAOK2_ENST00000279394.3_Silent_p.P394P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	394	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						aagaAGGCCCTGAAGCCCGGG	0.617																																					p.P394P		.											.	TAOK2-521	0			c.T1182C						.						47	44	45					16																	29994575		2197	4300	6497	SO:0001819	synonymous_variant	9344	exon12			AGGCCCTGAAGCC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1182T>C	16.37:g.29994575T>C		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	71	6	NM_004783	0	0	11	11	0	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																			.		0.617	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		C	29994575	T	C	29994575	2	2	5	1	0	0	0	0	0	0	0	1	15595	1567	55	4		4	TAOK2	16	29994575	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1147225	29994575	60360178	457	918											
INO80E	283899	hgsc.bcm.edu	37	chr16	30016621	30016621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggggctggggtcgggaCaaccctgacccccctcccac	12	17	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:30016621C>T	ENST00000563197.1	+	7	1610	c.593C>T	c.(592-594)aCa>aTa	p.T198I	INO80E_ENST00000304516.7_Missense_Mutation_p.T159I|INO80E_ENST00000567705.1_Missense_Mutation_p.T181I	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	198	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						GGGGTCGGGACAACCCTGACC	0.692																																					p.T198I		.											.	INO80E-91	0			c.C593T						.						5	6	5					16																	30016621		2013	3970	5983	SO:0001583	missense	283899	exon7			TCGGGACAACCCT	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"INO80 complex subunits"	26905	protein-coding gene	gene with protein product			"coiled-coil domain containing 95"	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.593C>T	16.37:g.30016621C>T	ENSP00000457016:p.Thr198Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	14	NM_173618	0	0	13	22	9	Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769290	0.31320	.	.	ENSG00000169592	ENST00000304516	.	.	.	4.84	4.84	0.62591	.	0.436525	0.21015	N	0.081604	T	0.26340	0.0643	N	0.08118	0	0.23076	N	0.998339	B	0.12630	0.006	B	0.15052	0.012	T	0.19321	-1.0309	9	0.45353	T	0.12	0.0066	15.4259	0.75051	0.0:1.0:0.0:0.0	.	198	Q8NBZ0	IN80E_HUMAN	I	198	.	ENSP00000303977:T198I	T	+	2	0	INO80E	29924122	1.000000	0.71417	0.977000	0.42913	0.325000	0.28411	4.612000	0.61169	2.248000	0.74166	0.561000	0.74099	ACA	.		0.692	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		T	30016621	C	T	30016621	3	4	5	1	0	0	0	0	1	0	0	0	7777	478	17	3	619	3	INO80E	16	30016621	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	22046	30016621	60338132	458	919											
PRSS8	5652	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	31144689	31144689	+	Frame_Shift_Del	DEL	G	G	-													gccacctgtgatgcgtgcttGgggggccacaccgcagggag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:31144689delG	ENST00000317508.6	-	3	387	c.124delC	c.(124-126)caafs	p.Q42fs	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Frame_Shift_Del_p.Q42fs	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	42					positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ATGCGTGCTTGGGGGGCCACA	0.622																																					p.Q42fs		.											.	.	0			c.124delC						.						38	43	41					16																	31144689		2133	4253	6386	SO:0001589	frameshift_variant	5652	exon3			GTGCTTGGGGGGC	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.124delC	16.37:g.31144689delG	ENSP00000319730:p.Gln42fs	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	240	130	NM_002773	0	0	0	0	0	B4DWP2|Q9UCA3	Frame_Shift_Del	DEL	ENST00000317508.6	37	CCDS45469.1																																																																																			.		0.622	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		-	31144689	G	-	31144689	7	5	5	1	0	1	0	1	0	0	0	0	12677	1357	47	0	923	0	PRSS8	16	31144689	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	1128068	31144689	59210064	459	920											
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	48155704	48155704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatgcctgctgtgaaacGtaggccaaagttccattgac	9	11	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:48155704G>A	ENST00000311303.3	-	11	1980	c.1635C>T	c.(1633-1635)taC>taT	p.Y545Y	ABCC12_ENST00000448542.1_Silent_p.Y545Y|ABCC12_ENST00000416054.1_Silent_p.Y545Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	545	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGTGAAACGTAGGCCAAAG	0.443																																					p.Y545Y		.											.	ABCC12-93	0			c.C1635T						.						95	78	83					16																	48155704		2201	4300	6501	SO:0001819	synonymous_variant	94160	exon11			TGAAACGTAGGCC	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.1635C>T	16.37:g.48155704G>A		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	176	93	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																			.		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48155704	G	A	48155704	2	1	5	1	0	0	0	0	0	0	0	1	52	1140	40	1		1	ABCC12	16	48155704	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	17011015	48155704	42199049	460	921											
LONP2	85320	hgsc.bcm.edu	37	chr16	48278491	48278491	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcatccccaacacgccTgaccccgccagcgacgcgca	10	20	1	1	rs369746025	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:48278491T>C	ENST00000356608.2	-	1	81				ABCC11_ENST00000537808.1_Intron|LONP2_ENST00000535754.1_Silent_p.P64P|LONP2_ENST00000285737.4_Silent_p.P64P			Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11						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)	CCAACACGCCTGACCCCGCCA	0.751													T|||	29	0.00579073	0.0204	0.0014	5008	,	,		11116	0		0.001	False		,,,				2504	0				p.P64P		.											.	LONP2-90	0			c.T192C						.	T		20,4122		0,20,2051	9	6	7		192	-0.3	1	16		7	0,8078		0,0,4039	no	coding-synonymous	LONP2	NM_031490.2		0,20,6090	CC,CT,TT		0.0,0.4829,0.1637		64/853	48278491	20,12200	2071	4039	6110	SO:0001627	intron_variant	83752	exon1			CACGCCTGACCCC	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	ENST00000356608.2:c.17+2733A>G	16.37:g.48278491T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	35	11	NM_031490	0	0	2	2	0	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000356608.2	37	CCDS10732.1																																																																																			.		0.751	ABCC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256843.1	NM_032583		C	48278491	T	C	48278491	1	2	5	0	1	0	0	0	0	0	0	0	8928	1567	55	4		4	LONP2	16	48278491	Intron	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	122787	48278491	42076262	461	922											
SNX20	124460	hgsc.bcm.edu	37	chr16	50707433	50707433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagtccttgcccagcgCgtaggccaggcggaccatgg	14	14	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:50707433C>T	ENST00000330943.4	-	4	1006	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	279					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						TTGCCCAGCGCGTAGGCCAGG	0.701																																					p.A279T		.											.	SNX20-23	0			c.G835A						.						32	34	33					16																	50707433		2198	4298	6496	SO:0001583	missense	124460	exon4			CCAGCGCGTAGGC	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.835G>A	16.37:g.50707433C>T	ENSP00000332062:p.Ala279Thr	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	94	60	NM_182854	0	0	0	0	0	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551353	0.27739	.	.	ENSG00000167208	ENST00000330943	T	0.64991	-0.13	5.67	-8.56	0.00904	.	1.734210	0.02300	N	0.071071	T	0.32496	0.0831	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.11542	-1.0583	10	0.20046	T	0.44	-0.7851	3.8322	0.08879	0.0842:0.3958:0.1661:0.3538	.	279	Q7Z614	SNX20_HUMAN	T	279	ENSP00000332062:A279T	ENSP00000332062:A279T	A	-	1	0	SNX20	49264934	0.004000	0.15560	0.026000	0.17262	0.847000	0.48162	-0.018000	0.12568	-1.129000	0.02918	-1.149000	0.01842	GCG	.		0.701	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		T	50707433	C	T	50707433	3	4	5	1	0	0	0	0	1	0	0	0	14937	768	27	1	262	1	SNX20	16	50707433	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2428942	50707433	39647320	462	923											
NOD2	64127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50744753	50744753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagcacgctcctgcagCggctgcacttgctgtgggct	14	13	0	1	rs104895427	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:50744753C>T	ENST00000300589.2	+	4	1036	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	NOD2_ENST00000526417.2_3'UTR|RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	311	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		R -> W (associated with Crohn disease and ulcerative colitis). {ECO:0000269|PubMed:11385576}.		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)				GCTCCTGCAGCGGCTGCACTT	0.612													C|||	4	0.000798722	0	0.0014	5008	,	,		18994	0.003		0	False		,,,				2504	0				p.R311W		.											.	NOD2-231	0			c.C931T	GRCh37	CM020650	NOD2	M	rs104895427	.	C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	33	33	33	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	931	5.6	1	16	dbSNP_132	33	9,8591	7.1+/-27.0	0,9,4291	yes	missense	NOD2	NM_022162.1	101	0,10,6488	TT,TC,CC		0.1047,0.0227,0.0769	probably-damaging	311/1041	50744753	10,12986	2198	4300	6498	SO:0001583	missense	64127	exon4			CTGCAGCGGCTGC	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.931C>T	16.37:g.50744753C>T	ENSP00000300589:p.Arg311Trp	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	104	54	NM_022162	0	0	0	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	17.31	3.356735	0.61293	2.27E-4	0.001047	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79247	-1.25	5.62	5.62	0.85841	NACHT nucleoside triphosphatase (1);	0.728733	0.12865	N	0.432748	D	0.83036	0.5167	L	0.44542	1.39	0.52099	D	0.999943	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.65443	0.896;0.935;0.934	T	0.81673	-0.0826	10	0.87932	D	0	.	12.1445	0.54016	0.1711:0.8289:0.0:0.0	.	95;284;311	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	W	284;311	ENSP00000300589:R311W	ENSP00000300589:R311W	R	+	1	2	NOD2	49302254	1.000000	0.71417	0.988000	0.46212	0.719000	0.41307	2.641000	0.46587	2.651000	0.90000	0.455000	0.32223	CGG	C|0.999;T|0.001		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50744753	C	T	50744753	3	4	5	1	0	0	0	0	1	0	0	0	10556	759	27	1	945	1	NOD2	16	50744753	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	37320	50744753	39610000	463	924											
RANBP10	57610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	67765468	67765468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaatacccatgatgcaCgaggtaagatgaaaccatgc	10	10	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:67765468C>T	ENST00000317506.3	-	7	911	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	RANBP10_ENST00000411657.2_Missense_Mutation_p.V149M|RANBP10_ENST00000425512.2_Missense_Mutation_p.V134M|RANBP10_ENST00000536251.1_Missense_Mutation_p.V37M|RANBP10_ENST00000602677.1_Missense_Mutation_p.V266M|RANBP10_ENST00000448631.2_Missense_Mutation_p.V210M	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	266	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCATGATGCACGAGGTAAGAT	0.473																																					p.V266M		.											.	RANBP10-227	0			c.G796A						.						113	97	102					16																	67765468		2198	4300	6498	SO:0001583	missense	57610	exon7			GATGCACGAGGTA	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.796G>A	16.37:g.67765468C>T	ENSP00000316589:p.Val266Met	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	275	29	NM_020850	0	0	2	2	0	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196171	0.94960	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657;ENST00000425512	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.78	5.78	0.91487	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.70595	2.14	0.80722	D	1	P;P;D;D;D	0.89917	0.955;0.882;1.0;1.0;0.994	P;P;D;D;P	0.91635	0.557;0.523;0.999;0.993;0.876	D	0.89143	0.3518	10	0.54805	T	0.06	-21.3303	19.6088	0.95594	0.0:1.0:0.0:0.0	.	134;266;149;210;266	B4DHL9;B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;.;RBP10_HUMAN	M	266;210;37;149;134	ENSP00000316589:V266M;ENSP00000392808:V210M;ENSP00000442249:V37M;ENSP00000416460:V149M;ENSP00000410617:V134M	ENSP00000316589:V266M	V	-	1	0	RANBP10	66322969	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.737000	0.84957	2.734000	0.93682	0.563000	0.77884	GTG	.		0.473	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		T	67765468	C	T	67765468	3	4	5	1	0	0	0	0	1	0	0	0	13071	536	19	1	1098	1	RANBP10	16	67765468	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	17020715	67765468	22589285	464	925											
PDPR	55066	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	70190402	70190402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatttcattggtcgcgacGccctcctgcagcagaagcag	12	12	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:70190402G>A	ENST00000288050.4	+	19	3217	c.2260G>A	c.(2260-2262)Gcc>Acc	p.A754T	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000542659.1_Missense_Mutation_p.A99T|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.A654T|PDPR_ENST00000567046.1_Missense_Mutation_p.A112T|PDPR_ENST00000568530.1_Missense_Mutation_p.A754T	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	754					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGGTCGCGACGCCCTCCTGCA	0.552																																					p.A754T		.											.	PDPR-135	0			c.G2260A						.						129	143	139					16																	70190402		2088	4227	6315	SO:0001583	missense	55066	exon19			CGCGACGCCCTCC		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2260G>A	16.37:g.70190402G>A	ENSP00000288050:p.Ala754Thr	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	230	30	NM_017990	0	0	0	0	0	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669915	0.67814	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	D;D;D	0.81659	-1.52;-1.52;-1.52	6.03	5.09	0.68999	Glycine cleavage T-protein, C-terminal barrel (1);	0.162984	0.53938	D	0.000053	D	0.93099	0.7803	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.945;0.989	D	0.95113	0.8240	10	0.59425	D	0.04	.	16.0426	0.80695	0.0:0.0:0.8648:0.1352	.	421;754	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	T	754;654;421;99	ENSP00000288050:A754T;ENSP00000381190:A654T;ENSP00000441690:A99T	ENSP00000205055:A421T	A	+	1	0	PDPR	68747903	1.000000	0.71417	0.885000	0.34714	0.045000	0.14185	7.957000	0.87870	1.576000	0.49790	-0.233000	0.12211	GCC	.		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		A	70190402	G	A	70190402	3	1	5	1	0	0	0	0	1	0	0	0	11728	1087	38	1	2326	1	PDPR	16	70190402	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2424934	70190402	20164351	465	926											
VAC14	55697	broad.mit.edu;bcgsc.ca	37	chr16	70732653	70732653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttgaggtcctcctcccGcagcaggatgtctgccattg	11	13	1	1	rs145938865	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:70732653G>A	ENST00000261776.5	-	15	1983	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	VAC14_ENST00000536184.2_Missense_Mutation_p.R7W	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	575					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCCTCCTCCCGCAGCAGGATG	0.607																																					p.R575W		.											.	VAC14-227	0			c.C1723T						.	G	TRP/ARG	4,4392	8.1+/-20.4	0,4,2194	190	126	148		1723	3.2	0.9	16	dbSNP_134	148	11,8589	8.4+/-32.0	0,11,4289	yes	missense	VAC14	NM_018052.3	101	0,15,6483	AA,AG,GG		0.1279,0.091,0.1154	probably-damaging	575/783	70732653	15,12981	2198	4300	6498	SO:0001583	missense	55697	exon15			CCTCCCGCAGCAG	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1723C>T	16.37:g.70732653G>A	ENSP00000261776:p.Arg575Trp	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	287	10	NM_018052	0	0	19	19	0	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620991	0.66787	9.1E-4	0.001279	ENSG00000103043	ENST00000261776;ENST00000536184	T	0.68025	-0.3	5.25	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.213831	0.46758	D	0.000262	T	0.65913	0.2737	L	0.29908	0.895	0.48135	D	0.999594	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.903	T	0.65170	-0.6233	10	0.72032	D	0.01	-4.2082	4.8638	0.13598	0.0723:0.1296:0.5327:0.2654	.	505;575	B4DMP4;Q08AM6	.;VAC14_HUMAN	W	575;7	ENSP00000261776:R575W	ENSP00000261776:R575W	R	-	1	2	VAC14	69290154	0.988000	0.35896	0.871000	0.34182	0.837000	0.47467	3.285000	0.51716	0.569000	0.29329	-0.218000	0.12543	CGG	G|0.999;A|0.001		0.607	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		A	70732653	G	A	70732653	3	1	5	1	0	0	0	0	1	0	0	0	17160	1086	38	1	645	1	VAC14	16	70732653	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	542251	70732653	19622100	466	927											
DHODH	1723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	72057466	72057466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggtgcagctgtacaCggccctcaccttctgggggc	12	16	2	0	rs563071819		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:72057466C>T	ENST00000219240.4	+	8	1088	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	DHODH_ENST00000572887.1_Missense_Mutation_p.T354M	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	356					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CAGCTGTACACGGCCCTCACC	0.607													C|||	1	0.000199681	0	0	5008	,	,		17119	0		0	False		,,,				2504	0.001				p.T356M		.											.	DHODH-227	0			c.C1067T						.						63	71	69					16																	72057466		1994	4168	6162	SO:0001583	missense	1723	exon8			TGTACACGGCCCT		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1067C>T	16.37:g.72057466C>T	ENSP00000219240:p.Thr356Met	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	62	24	NM_001361	0	0	6	12	6	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235795	0.95240	.	.	ENSG00000102967	ENST00000219240	D	0.96232	-3.95	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	-12.6102	20.024	0.97514	0.0:1.0:0.0:0.0	.	356	Q02127	PYRD_HUMAN	M	356	ENSP00000219240:T356M	ENSP00000219240:T356M	T	+	2	0	DHODH	70614967	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	7.459000	0.80802	2.813000	0.96785	0.561000	0.74099	ACG	.		0.607	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		T	72057466	C	T	72057466	3	4	5	1	0	0	0	0	1	0	0	0	4498	536	19	1	1097	1	DHODH	16	72057466	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1324813	72057466	18297287	467	928											
CTRB2	440387	broad.mit.edu;bcgsc.ca	37	chr16	75238144	75238144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtggtagagcaggtgCggctgccccaggacacaatg	17	10	0	1	rs201069805	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:75238144C>T	ENST00000303037.8	-	7	750	c.707G>A	c.(706-708)cGc>cAc	p.R236H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						AGAGCAGGTGCGGCTGCCCCA	0.652													C|||	3	0.000599042	0	0	5008	,	,		16489	0		0.003	False		,,,				2504	0				p.R236H		.											.	CTRB2-68	0			c.G707A						.						85	75	78					16																	75238144		2198	4300	6498	SO:0001583	missense	440387	exon7			CAGGTGCGGCTGC	M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.707G>A	16.37:g.75238144C>T	ENSP00000303963:p.Arg236His	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	248	127	NM_001025200	0	0	0	0	0	A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922714	0.73213	.	.	ENSG00000168928	ENST00000303037	D	0.92965	-3.14	4.33	-1.42	0.08913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.684650	0.13343	U	0.395014	D	0.84946	0.5585	N	0.25485	0.75	0.09310	N	1	P	0.36837	0.571	B	0.40565	0.333	T	0.76429	-0.2962	10	0.72032	D	0.01	.	5.4525	0.16572	0.0:0.3867:0.2404:0.3729	.	236	Q6GPI1	CTRB2_HUMAN	H	236	ENSP00000303963:R236H	ENSP00000303963:R236H	R	-	2	0	CTRB2	73795645	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-0.273000	0.08548	-0.458000	0.07023	-0.462000	0.05337	CGC	.		0.652	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200		T	75238144	C	T	75238144	3	4	5	1	0	0	0	0	1	0	0	0	4035	768	27	1	88	1	CTRB2	16	75238144	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3180678	75238144	15116609	468	929											
TMEM231	79583	broad.mit.edu;bcgsc.ca	37	chr16	75575345	75575345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttgggatcattcaggaCggtggtaactgcaatgcaat	15	6	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:75575345C>T	ENST00000258173.6	-	6	749	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	TMEM231_ENST00000568377.1_Missense_Mutation_p.V254I|TMEM231_ENST00000569294.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Missense_Mutation_p.V177I|RP11-77K12.7_ENST00000460606.1_Intron	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	225					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCATTCAGGACGGTGGTAACT	0.448																																					p.V278I		.											.	.	0			c.G832A						.						57	62	60					16																	75575345		1959	4168	6127	SO:0001583	missense	79583	exon5			TCAGGACGGTGGT		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.673G>A	16.37:g.75575345C>T	ENSP00000258173:p.Val225Ile	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	136	52	NM_001077416	0	0	1	1	0	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	c	6.846	0.525294	0.13066	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.63744	-0.06;-0.06	4.42	-8.06	0.01102	.	0.984214	0.08309	N	0.965621	T	0.45935	0.1367	L	0.35288	1.05	0.31127	N	0.708135	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.11329	0.006;0.003;0.003	T	0.20240	-1.0281	10	0.27785	T	0.31	-7.6117	13.8349	0.63404	0.1022:0.7886:0.0:0.1092	.	254;225;254	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	I	225;254	ENSP00000258173:V225I;ENSP00000381184:V254I	ENSP00000258173:V225I	V	-	1	0	TMEM231	74132846	0.001000	0.12720	0.096000	0.21009	0.455000	0.32408	-0.119000	0.10676	-1.720000	0.01380	-0.592000	0.04112	GTC	.		0.448	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416		T	75575345	C	T	75575345	3	4	5	1	0	0	0	0	1	0	0	0	16196	536	19	1	285	1	TMEM231	16	75575345	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	337201	75575345	14779408	469	930											
MBTPS1	8720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	84129260	84129260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtctgggcaacctggCgcgggatggctctcagcagc	16	12	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:84129260C>T	ENST00000343411.3	-	4	1067	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	191					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCAACCTGGCGCGGGATGGC	0.587																																					p.R191H		.											.	MBTPS1-92	0			c.G572A						.						90	78	82					16																	84129260		2200	4300	6500	SO:0001583	missense	8720	exon4			ACCTGGCGCGGGA	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.572G>A	16.37:g.84129260C>T	ENSP00000344223:p.Arg191His	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	131	22	NM_003791	0	0	1	1	0	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	36	5.820751	0.96989	.	.	ENSG00000140943	ENST00000343411	T	0.33438	1.41	5.97	5.97	0.96955	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.048958	0.85682	D	0.000000	T	0.50871	0.1641	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	P	0.56216	0.794	T	0.37407	-0.9707	10	0.44086	T	0.13	-25.2942	20.4388	0.99107	0.0:1.0:0.0:0.0	.	191	Q14703	MBTP1_HUMAN	H	191	ENSP00000344223:R191H	ENSP00000344223:R191H	R	-	2	0	MBTPS1	82686761	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.782000	0.85680	2.836000	0.97738	0.655000	0.94253	CGC	.		0.587	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		T	84129260	C	T	84129260	3	4	5	1	0	0	0	0	1	0	0	0	9399	768	27	1	2666	1	MBTPS1	16	84129260	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8553915	84129260	6225493	470	931											
IL17C	27189	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	88706308	88706308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgatgcacggacgggccGcgagacagctgcgctcaact	13	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:88706308G>A	ENST00000244241.4	+	3	471	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	141					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGACGGGCCGCGAGACAGCT	0.701																																					p.R141H		.											.	IL17C-90	0			c.G422A						.						23	29	27					16																	88706308		2083	4193	6276	SO:0001583	missense	27189	exon3			CGGGCCGCGAGAC	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.422G>A	16.37:g.88706308G>A	ENSP00000244241:p.Arg141His	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	47	25	NM_013278	0	0	0	1	1	Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443266	0.43429	.	.	ENSG00000124391	ENST00000244241	T	0.56275	0.47	4.45	1.34	0.21922	.	0.233048	0.29266	N	0.012655	T	0.54415	0.1857	L	0.43152	1.355	0.09310	N	0.999999	D	0.69078	0.997	P	0.60345	0.873	T	0.39121	-0.9629	10	0.51188	T	0.08	-23.8373	7.4646	0.27314	0.3574:0.0:0.6426:0.0	.	141	Q9P0M4	IL17C_HUMAN	H	141	ENSP00000244241:R141H	ENSP00000244241:R141H	R	+	2	0	IL17C	87233809	0.010000	0.17322	0.235000	0.24058	0.102000	0.19082	0.909000	0.28558	0.861000	0.35504	0.561000	0.74099	CGC	.		0.701	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		A	88706308	G	A	88706308	3	1	5	1	0	0	0	0	1	0	0	0	7663	1087	38	1	432	1	IL17C	16	88706308	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4577048	88706308	1648445	471	932											
ACSF3	197322	ucsc.edu	37	chr16	89167094	89167094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgtcagtgcaatgcTgccccatgtggtgctcacct	11	15	2	0	rs7188200	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89167094T>C	ENST00000317447.4	+	3	382	c.5T>C	c.(4-6)cTg>cCg	p.L2P	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.L2P	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	2			L -> P (in dbSNP:rs7188200). {ECO:0000269|PubMed:15489334}.		fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGTGCAATGCTGCCCCATGTG	0.622													C|||	3127	0.624401	0.6029	0.7853	5008	,	,		14671	0.4841		0.7803	False		,,,				2504	0.5235				p.L2P		.											.	ACSF3-68	0			c.T5C						.						13	13	13					16																	89167094		2132	4171	6303	SO:0001583	missense	197322	exon3			CAATGCTGCCCCA	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.5T>C	16.37:g.89167094T>C	ENSP00000320646:p.Leu2Pro	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	46	14	NM_174917	0	0	1	1	0	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	1411	0.6460622710622711	285	0.5792682926829268	282	0.7790055248618785	269	0.47027972027972026	575	0.758575197889182	C	8.627	0.892749	0.17613	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.57595	0.82;0.39;0.82	4.81	-8.23	0.01033	.	3.072820	0.01137	N	0.006101	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.30268	-0.9984	9	0.30078	T	0.28	4.6826	6.063	0.19848	0.0912:0.4503:0.0926:0.3659	rs7188200;rs52794281;rs59665105;rs7188200	2	Q4G176	ACSF3_HUMAN	P	2	ENSP00000320646:L2P;ENSP00000440734:L2P;ENSP00000384627:L2P	ENSP00000320646:L2P	L	+	2	0	ACSF3	87694595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.587000	0.02108	-2.224000	0.00725	-2.069000	0.00389	CTG	T|0.381;C|0.619		0.622	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		C	89167094	T	C	89167094	3	2	5	1	0	0	0	0	1	0	0	0	176	1580	55	4	7	4	ACSF3	16	89167094	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	460786	89167094	1187659	472	933											
ANKRD11	29123	broad.mit.edu	37	chr16	89345709	89345709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacgatggcggccagcGtctgctggatcacctcccgc	12	17	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89345709G>A	ENST00000301030.4	-	9	7701	c.7241C>T	c.(7240-7242)aCg>aTg	p.T2414M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T2414M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2414					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCAGCGTCTGCTGGAT	0.632																																					p.T2414M		.											.	ANKRD11-139	0			c.C7241T						.						24	22	23					16																	89345709		2198	4300	6498	SO:0001583	missense	29123	exon9			GCCAGCGTCTGCT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7241C>T	16.37:g.89345709G>A	ENSP00000301030:p.Thr2414Met	Somatic	58	2		WXS	Illumina GAIIx	Phase_I	301	153	NM_001256183	0	0	16	34	18	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.232377	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47177	0.85;0.85	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.69531	0.3121	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.74362	-0.3690	10	0.87932	D	0	.	18.2136	0.89878	0.0:0.0:1.0:0.0	.	2414	Q6UB99	ANR11_HUMAN	M	2414	ENSP00000301030:T2414M;ENSP00000367581:T2414M	ENSP00000301030:T2414M	T	-	2	0	ANKRD11	87873210	1.000000	0.71417	0.995000	0.50966	0.572000	0.35998	9.704000	0.98716	2.302000	0.77476	0.187000	0.17357	ACG	.		0.632	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89345709	G	A	89345709	3	1	5	1	0	0	0	0	1	0	0	0	639	1145	40	1	770	1	ANKRD11	16	89345709	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	178615	89345709	1009044	473	934											
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89352532	89352532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttggccactttcagcggCgtctcgcctttcctgttgct	11	13	2	0	rs149525788		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89352532C>T	ENST00000301030.4	-	8	1267	c.807G>A	c.(805-807)acG>acA	p.T269T	ANKRD11_ENST00000378330.2_Silent_p.T269T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	269					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTCAGCGGCGTCTCGCCTT	0.602																																					p.T269T		.											.	ANKRD11-139	0			c.G807A						.						161	152	155					16																	89352532		2198	4300	6498	SO:0001819	synonymous_variant	29123	exon8			CAGCGGCGTCTCG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.807G>A	16.37:g.89352532C>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	158	41	NM_001256183	0	0	8	16	8	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																			C|1.000;G|0.000		0.602	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89352532	C	T	89352532	2	4	5	1	0	0	0	0	0	0	0	1	639	755	27	1		1	ANKRD11	16	89352532	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	6823	89352532	1002221	474	935											
MC1R	4157	hgsc.bcm.edu	37	chr16	89986317	89986317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgggcctgccagcaCgcccagggcatcgcccggct	14	19	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr16:89986317C>T	ENST00000555147.1	+	1	2031	c.651C>T	c.(649-651)caC>caT	p.H217H	TUBB3_ENST00000554444.1_5'Flank|MC1R_ENST00000555427.1_Silent_p.H217H|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Silent_p.H217H|RP11-566K11.7_ENST00000570217.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	217					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTGCCAGCACGCCCAGGGCA	0.652									Melanoma, Familial Clustering of																												p.H217H		.											.	.	0			c.C651T						.																																			SO:0001819	synonymous_variant	4157	exon1	Familial Cancer Database		CCAGCACGCCCAG		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.651C>T	16.37:g.89986317C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	67	36	NM_002386	0	0	48	90	42	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	CCDS56011.1																																																																																			.		0.652	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		T	89986317	C	T	89986317	2	4	5	1	0	0	0	0	0	0	0	1	9401	535	19	1		1	MC1R	16	89986317	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	633785	89986317	368436	475	936											
RPH3AL	9501	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	169309	169309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttccccatcacattccGcctcatggtctccagccgct	7	19	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:169309G>A	ENST00000331302.7	-	5	560	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RPH3AL_ENST00000323434.8_Missense_Mutation_p.R85W|RP11-1260E13.1_ENST00000572998.1_RNA|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R85W	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	85	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.			R -> Q (in Ref. 4; AAH05153). {ECO:0000305}.	exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)	p.R85W(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ATCACATTCCGCCTCATGGTC	0.632																																					p.R85W		.											.	RPH3AL-91	1	Substitution - Missense(1)	NS(1)	c.C253T						.						105	84	91					17																	169309		2199	4296	6495	SO:0001583	missense	9501	exon4			CATTCCGCCTCAT		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.253C>T	17.37:g.169309G>A	ENSP00000328977:p.Arg85Trp	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	79	65	NM_001190413	0	0	0	0	0	D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291111	0.80914	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	T;T;T	0.79352	-1.26;-1.26;-1.26	5.74	0.995	0.19838	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.430095	0.21665	N	0.070949	T	0.75910	0.3914	L	0.29908	0.895	0.34059	D	0.65705	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.62382	0.809;0.854;0.901	T	0.77319	-0.2632	10	0.36615	T	0.2	-13.2383	9.6735	0.40026	0.0:0.1029:0.2659:0.6312	.	85;85;85	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	W	85	ENSP00000319210:R85W;ENSP00000328977:R85W;ENSP00000438224:R85W	ENSP00000319210:R85W	R	-	1	2	RPH3AL	169309	1.000000	0.71417	0.533000	0.28001	0.912000	0.54170	3.692000	0.54727	0.307000	0.22880	-0.175000	0.13238	CGG	.		0.632	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		A	169309	G	A	169309	3	1	5	1	0	0	0	0	1	0	0	0	13597	1086	38	1	718	1	RPH3AL	17	169309	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		169309	81025901	476	937											
MYO1C	4641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	1371412	1371412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtatttcacaacaggcacCgcatactggggacagaggcc	11	12	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:1371412C>T	ENST00000575158.1	-	28	2837	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	MYO1C_ENST00000545534.2_Silent_p.A898A|MYO1C_ENST00000438665.2_Silent_p.A903A|MYO1C_ENST00000359786.5_Silent_p.A922A|MYO1C_ENST00000361007.2_Silent_p.A887A			Q12965	MYO1E_HUMAN	myosin IC	767	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAACAGGCACCGCATACTGGG	0.647																																					p.A922A		.											.	MYO1C-90	0			c.G2766A						.						37	37	37					17																	1371412		2203	4300	6503	SO:0001819	synonymous_variant	4641	exon28			AGGCACCGCATAC	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.2661G>A	17.37:g.1371412C>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	88	43	NM_001080779	0	0	0	0	0	Q14778	Silent	SNP	ENST00000575158.1	37	CCDS11003.1																																																																																			.		0.647	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			T	1371412	C	T	1371412	2	4	5	1	0	0	0	0	0	0	0	1	10108	639	23	1		1	MYO1C	17	1371412	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1202103	1371412	79823798	477	938											
GSG2	83903	hgsc.bcm.edu	37	chr17	3627663	3627663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccgcgactccggccGcctcagcccggacctcagcg	11	22	2	0	rs55991903	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:3627663G>A	ENST00000325418.4	+	1	453	c.434G>A	c.(433-435)cGc>cAc	p.R145H	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	145			R -> H (in dbSNP:rs55991903). {ECO:0000269|PubMed:17344846}.		histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GACTCCGGCCGCCTCAGCCCG	0.741													G|||	21	0.00419329	0.0015	0.0086	5008	,	,		14335	0		0.0109	False		,,,				2504	0.002				p.R145H		.											.	GSG2-297	0			c.G434A						.	G	,HIS/ARG	19,4333		0,19,2157	8	10	10		,434	-5.6	0	17	dbSNP_129	10	133,8365		2,129,4118	no	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,29	2,148,6275	AA,AG,GG		1.5651,0.4366,1.1829	,possibly-damaging	,145/799	3627663	152,12698	2176	4249	6425	SO:0001583	missense	83903	exon1			CCGGCCGCCTCAG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.434G>A	17.37:g.3627663G>A	ENSP00000325290:p.Arg145His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	18	NM_031965	0	0	0	1	1	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	16	0.007326007326007326	1	0.0020325203252032522	4	0.011049723756906077	2	0.0034965034965034965	9	0.011873350923482849	G	13.14	2.146801	0.37923	0.004366	0.015651	ENSG00000177602	ENST00000325418	T	0.06218	3.33	4.39	-5.62	0.02481	.	2.075320	0.02499	N	0.090312	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.42616	-0.9441	10	0.87932	D	0	-17.6922	2.1224	0.03729	0.1356:0.2934:0.2735:0.2975	rs55991903	145	Q8TF76	HASP_HUMAN	H	145	ENSP00000325290:R145H	ENSP00000325290:R145H	R	+	2	0	GSG2	3574412	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-0.627000	0.05521	-0.721000	0.04929	0.467000	0.42956	CGC	G|0.993;A|0.007		0.741	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		A	3627663	G	A	3627663	3	1	5	1	0	0	0	0	1	0	0	0	6849	1087	38	1	436	1	GSG2	17	3627663	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2256251	3627663	77567547	478	939											
VMO1	284013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4688850	4688850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggaagcgcacgttgttcGctgctgtgttgtcaccgagg	15	10	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:4688850G>A	ENST00000328739.5	-	3	495	c.416C>T	c.(415-417)gCg>gTg	p.A139V	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)	139						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CACGTTGTTCGCTGCTGTGTT	0.647																																					p.A139V		.											.	VMO1-69	0			c.C416T						.						81	70	74					17																	4688850		2203	4300	6503	SO:0001583	missense	284013	exon3			TTGTTCGCTGCTG	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.416C>T	17.37:g.4688850G>A	ENSP00000328397:p.Ala139Val	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	106	47	NM_182566	0	0	2	2	0	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969838	0.34754	.	.	ENSG00000182853	ENST00000328739	T	0.46063	0.88	5.0	1.52	0.23074	.	0.306644	0.34906	N	0.003600	T	0.30293	0.0760	L	0.28694	0.88	0.51012	D	0.999905	D	0.59767	0.986	P	0.46543	0.52	T	0.02797	-1.1109	10	0.30854	T	0.27	-21.1478	7.5836	0.27980	0.4021:0.0:0.5979:0.0	.	139	Q7Z5L0	VMO1_HUMAN	V	139	ENSP00000328397:A139V	ENSP00000328397:A139V	A	-	2	0	VMO1	4635590	0.382000	0.25148	0.178000	0.23040	0.792000	0.44763	1.114000	0.31196	0.458000	0.26988	0.561000	0.74099	GCG	.		0.647	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		A	4688850	G	A	4688850	3	1	5	1	0	0	0	0	1	0	0	0	17226	1087	38	1	196	1	VMO1	17	4688850	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1061187	4688850	76506360	479	940											
ASGR1	432	hgsc.bcm.edu	37	chr17	7077106	7077106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagtcctcgcctcctcCgagcccgtggccgtaccagt	11	18	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7077106C>T	ENST00000269299.3	-	9	1147	c.748G>A	c.(748-750)Gga>Aga	p.G250R	ASGR1_ENST00000574388.1_Missense_Mutation_p.G211R|ASGR1_ENST00000380920.4_Missense_Mutation_p.G149R	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	250	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCGCCTCCTCCGAGCCCGTGG	0.697																																					p.G250R		.											.	ASGR1-153	0			c.G748A						.						49	53	52					17																	7077106		2202	4299	6501	SO:0001583	missense	432	exon9			CTCCTCCGAGCCC		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.748G>A	17.37:g.7077106C>T	ENSP00000269299:p.Gly250Arg	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	41	37	NM_001671	0	0	0	1	1	I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878191	0.51801	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.19394	2.15	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.52532	D	0.000067	T	0.49440	0.1557	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53380	-0.8447	10	0.87932	D	0	.	15.9161	0.79521	0.0:1.0:0.0:0.0	.	250	P07306	ASGR1_HUMAN	R	250;211	ENSP00000269299:G250R	ENSP00000269299:G250R	G	-	1	0	ASGR1	7017830	0.610000	0.26983	0.369000	0.25952	0.004000	0.04260	2.906000	0.48735	2.698000	0.92095	0.609000	0.83330	GGA	.		0.697	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		T	7077106	C	T	7077106	3	4	5	1	0	0	0	0	1	0	0	0	1040	661	23	1	131	1	ASGR1	17	7077106	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2388256	7077106	74118104	480	941											
SPEM1	374768	broad.mit.edu;bcgsc.ca	37	chr17	7324353	7324353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgaggctctcccacacGctgtgctcactgcccagtag	10	17	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7324353G>A	ENST00000323675.3	+	3	384	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	120					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCTCCCACACGCTGTGCTCAC	0.607																																					p.R120H		.											.	SPEM1-90	0			c.G359A						.						66	72	70					17																	7324353		2152	4241	6393	SO:0001583	missense	374768	exon3			CCACACGCTGTGC	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.359G>A	17.37:g.7324353G>A	ENSP00000315554:p.Arg120His	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	151	7	NM_199339	0	0	0	0	0		Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028472	0.08054	.	.	ENSG00000181323	ENST00000323383;ENST00000323675	.	.	.	4.7	-5.6	0.02497	.	1.462480	0.04393	N	0.362773	T	0.26122	0.0637	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	9	0.49607	T	0.09	-0.979	8.2529	0.31737	0.5275:0.1072:0.3654:0.0	.	120	Q8N4L4	SPEM1_HUMAN	H	69;120	.	ENSP00000315511:R69H	R	+	2	0	SPEM1	7265077	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.151000	0.10175	-1.121000	0.02949	-1.814000	0.00607	CGC	.		0.607	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		A	7324353	G	A	7324353	3	1	5	1	0	0	0	0	1	0	0	0	15084	1087	38	1	369	1	SPEM1	17	7324353	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	247247	7324353	73870857	481	942											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R273C	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	c.C817T	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	.						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AAACACGCACCTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	79	74	NM_000546	0	0	0	2	2	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	.		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	5	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	252768	7577121	73618089	482	943											
ALOX12B	242	hgsc.bcm.edu;bcgsc.ca	37	chr17	7982767	7982767	+	Frame_Shift_Del	DEL	G	G	-													tccaaagtgcagcaggcagaGgggggcgcagtggtgctgct							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:7982767delG	ENST00000319144.4	-	8	1278	c.1018delC	c.(1018-1020)ctcfs	p.L340fs	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	340	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						AGCAGGCAGAGGGGGGCGCAG	0.667										Multiple Myeloma(8;0.094)																											p.L340fs		.											.	ALOX12B-226	0			c.1018delC						.						21	19	19					17																	7982767		2125	4158	6283	SO:0001589	frameshift_variant	242	exon8			GGCAGAGGGGGGC	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.1018delC	17.37:g.7982767delG	ENSP00000315167:p.Leu340fs	Somatic	47	1		WXS	Illumina GAIIx	Phase_I	227	196	NM_001139	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319144.4	37	CCDS11129.1																																																																																			.		0.667	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			-	7982767	G	-	7982767	7	5	5	1	0	1	0	1	0	0	0	0	537	1000	35	0	1119	0	ALOX12B	17	7982767	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	405646	7982767	73212443	483	944											
MYH10	4628	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8424545	8424545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcttggttttatatgcGgagccaaaagctgtctcagt	9	10	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:8424545G>A	ENST00000269243.4	-	16	2061	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	MYH10_ENST00000379980.4_Silent_p.S657S|MYH10_ENST00000396239.1_Silent_p.S662S|MYH10_ENST00000360416.3_Silent_p.S672S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	641	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S641S(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTATATGCGGAGCCAAAAG	0.468																																					p.S672S		.											.	MYH10-92	1	Substitution - coding silent(1)	large_intestine(1)	c.C2016T						.						172	164	167					17																	8424545		2203	4300	6503	SO:0001819	synonymous_variant	4628	exon18			ATATGCGGAGCCA	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.1923C>T	17.37:g.8424545G>A		Somatic	201	2		WXS	Illumina GAIIx	Phase_I	155	75	NM_001256012	0	0	0	0	0	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																			.		0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			A	8424545	G	A	8424545	2	1	5	1	0	0	0	0	0	0	0	1	10068	1103	39	1		1	MYH10	17	8424545	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	441778	8424545	72770665	484	945											
C17orf48	56985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	10614312	10614312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttttggtgtataccacGtcaacctagaaggagttatt	8	8	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:10614312G>A	ENST00000379774.4	+	4	971	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ADPRM_ENST00000609540.1_Silent_p.T292T	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	294							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										TGTATACCACGTCAACCTAGA	0.478																																					p.V294I		.											.	.	0			c.G880A						.						191	163	172					17																	10614312		2203	4300	6503	SO:0001583	missense	56985	exon4			TACCACGTCAACC	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.880G>A	17.37:g.10614312G>A	ENSP00000369099:p.Val294Ile	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	132	18	NM_020233	0	0	3	3	0	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	2.963	-0.214131	0.06101	.	.	ENSG00000170222	ENST00000379774	D	0.94092	-3.35	5.82	-2.21	0.06973	.	0.701451	0.14467	N	0.317804	T	0.81302	0.4794	N	0.25245	0.725	0.80722	D	1	B	0.17268	0.021	B	0.08055	0.003	T	0.65837	-0.6071	10	0.07813	T	0.8	-4.2856	2.832	0.05503	0.3903:0.1691:0.3486:0.092	.	294	Q3LIE5	ADPRM_HUMAN	I	294	ENSP00000369099:V294I	ENSP00000369099:V294I	V	+	1	0	C17orf48	10555037	0.006000	0.16342	0.059000	0.19551	0.173000	0.22820	0.103000	0.15292	-0.170000	0.10816	-0.191000	0.12829	GTC	.		0.478	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		A	10614312	G	A	10614312	3	1	5	1	0	0	0	0	1	0	0	0	1865	1145	40	1	890	1	C17orf48	17	10614312	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2189767	10614312	70580898	485	946											
DNAH9	1770	bcgsc.ca	37	chr17	11532835	11532835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtccagcaaatgcatgaAgaatttcaagagatgtacag	10	7	1	3	rs9895535	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11532835A>G	ENST00000262442.4	+	7	1520	c.1452A>G	c.(1450-1452)gaA>gaG	p.E484E	DNAH9_ENST00000454412.2_Silent_p.E484E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	484	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATGCATGAAGAATTTCAAG	0.542													G|||	1967	0.392772	0.7761	0.2334	5008	,	,		15250	0.131		0.3161	False		,,,				2504	0.3364				p.E484E		.											.	DNAH9-168	0			c.A1452G						.	G		3135,1271	433.5+/-343.6	1137,861,205	117	110	112		1452	-6	0	17	dbSNP_119	112	2607,5993	688.5+/-404.3	405,1797,2098	no	coding-synonymous	DNAH9	NM_001372.3		1542,2658,2303	GG,GA,AA		30.314,28.847,44.1489		484/4487	11532835	5742,7264	2203	4300	6503	SO:0001819	synonymous_variant	1770	exon7			GCATGAAGAATTT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1452A>G	17.37:g.11532835A>G		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			A|0.589;G|0.411		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11532835	A	G	11532835	2	3	5	1	0	0	0	0	0	0	0	1	4622	69	3	4		4	DNAH9	17	11532835	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	918523	11532835	69662375	486	947											
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	11778483	11778483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagatctccgggtcaCgcagattggtcagaaagggt	15	7	3	4	rs145738103	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11778483C>T	ENST00000262442.4	+	53	10528	c.10460C>T	c.(10459-10461)aCg>aTg	p.T3487M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3487M|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3487	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCGGGTCACGCAGATTGGT	0.453													C|||	2	0.000399361	0.0015	0	5008	,	,		16725	0		0	False		,,,				2504	0				p.T3487M		.											.	DNAH9-168	0			c.C10460T						.	C	MET/THR	11,4395	17.9+/-39.9	0,11,2192	74	64	68		10460	1.4	0.7	17	dbSNP_134	68	0,8600		0,0,4300	yes	missense	DNAH9	NM_001372.3	81	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	possibly-damaging	3487/4487	11778483	11,12995	2203	4300	6503	SO:0001583	missense	1770	exon53			GGGTCACGCAGAT	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.10460C>T	17.37:g.11778483C>T	ENSP00000262442:p.Thr3487Met	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	77	5	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.40	1.925323	0.34002	0.002497	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.23348	1.91;1.91	4.66	1.39	0.22231	.	0.123452	0.53938	D	0.000054	T	0.32102	0.0818	M	0.72479	2.2	0.80722	D	1	P	0.47191	0.891	P	0.48901	0.594	T	0.09079	-1.0691	10	0.66056	D	0.02	.	7.0357	0.24993	0.0:0.5474:0.0:0.4526	.	3487	Q9NYC9	DYH9_HUMAN	M	3487;3487;2069	ENSP00000262442:T3487M;ENSP00000414874:T3487M	ENSP00000262442:T3487M	T	+	2	0	DNAH9	11719208	0.984000	0.35163	0.747000	0.31113	0.054000	0.15201	2.144000	0.42197	0.594000	0.29761	-0.140000	0.14226	ACG	C|0.999;T|0.001		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11778483	C	T	11778483	3	4	5	1	0	0	0	0	1	0	0	0	4622	536	19	1	10670	1	DNAH9	17	11778483	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	245648	11778483	69416727	487	948											
DNAH9	1770	broad.mit.edu	37	chr17	11845741	11845741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttccaggagtgtggccGgatgaatatcctcaccagag	12	11	1	2	rs149812805	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:11845741G>A	ENST00000262442.4	+	67	12850	c.12782G>A	c.(12781-12783)cGg>cAg	p.R4261Q	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4185Q|DNAH9_ENST00000608377.1_Missense_Mutation_p.R573Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4261					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)		GAGTGTGGCCGGATGAATATC	0.537																																					p.R4261Q		.											.	DNAH9-168	0			c.G12782A						.	G	GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	103	91	95		12782,1718	3.9	0.9	17	dbSNP_134	95	0,8600		0,0,4300	yes	missense,missense	DNAH9	NM_001372.3,NM_004662.2	43,43	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging	4261/4487,573/799	11845741	7,12999	2203	4300	6503	SO:0001583	missense	1770	exon67			GTGGCCGGATGAA	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.12782G>A	17.37:g.11845741G>A	ENSP00000262442:p.Arg4261Gln	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	114	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659412	0.47467	0.001589	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10382	2.88;2.88;2.88	4.86	3.9	0.45041	Dynein heavy chain (1);	0.057064	0.64402	D	0.000001	T	0.48677	0.1513	H	0.98612	4.28	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.69176	-0.5214	10	0.72032	D	0.01	.	13.4622	0.61233	0.0756:0.0:0.9243:0.0	.	4261	Q9NYC9	DYH9_HUMAN	Q	4261;4185;2767;573	ENSP00000262442:R4261Q;ENSP00000414874:R4185Q;ENSP00000379323:R573Q	ENSP00000262442:R4261Q	R	+	2	0	DNAH9	11786466	1.000000	0.71417	0.929000	0.37066	0.179000	0.23085	6.450000	0.73477	1.271000	0.44313	-0.448000	0.05591	CGG	G|1.000;A|0.000		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11845741	G	A	11845741	3	1	5	1	0	0	0	0	1	0	0	0	4622	1116	39	1	13048	1	DNAH9	17	11845741	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	67258	11845741	69349469	488	949											
LGALS9B	284194	broad.mit.edu	37	chr17	20363687	20363687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccactggagctgagaaCggccccattgacagtgatct	12	11	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:20363687C>T	ENST00000423676.3	-	2	172	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9B_ENST00000324290.5_Missense_Mutation_p.V37I			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GAGCTGAGAACGGCCCCATTG	0.557																																					p.V37I		.											.	LGALS9B-23	0			c.G109A						.						197	163	175					17																	20363687		2202	4298	6500	SO:0001583	missense	284194	exon2			TGAGAACGGCCCC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"Lectins, galactoside-binding"	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.109G>A	17.37:g.20363687C>T	ENSP00000388841:p.Val37Ile	Somatic	677	0		WXS	Illumina GAIIx	Phase_I	795	15	NM_001042685	0	0	0	0	0	A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37		.	.	.	.	.	.	.	.	.	.	C	8.507	0.865540	0.17250	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.14516	2.5;2.5	2.33	-3.33	0.04958	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.332246	0.26891	N	0.021980	T	0.10165	0.0249	L	0.37507	1.11	0.09310	N	1	B;B	0.21071	0.051;0.009	B;B	0.33620	0.167;0.054	T	0.25882	-1.0119	10	0.42905	T	0.14	.	6.3721	0.21487	0.0:0.5048:0.0:0.4952	.	37;37	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	I	37	ENSP00000388841:V37I;ENSP00000315564:V37I	ENSP00000315564:V37I	V	-	1	0	LGALS9B	20304279	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.219000	0.02973	-0.888000	0.03956	0.194000	0.17425	GTT	.		0.557	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		T	20363687	C	T	20363687	3	4	5	1	0	0	0	0	1	0	0	0	8778	536	19	1	998	1	LGALS9B	17	20363687	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8517946	20363687	60831523	489	950											
KCNJ12	3768	ucsc.edu	37	chr17	21319943	21319943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggccctacagacgggAgtcagagatctgagccaacc	13	13	2	3	rs5021699	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:21319943A>G	ENST00000583088.1	+	3	2184	c.1289A>G	c.(1288-1290)gAg>gGg	p.E430G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E430G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	430			E -> G (in dbSNP:rs5021699).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACAGACGGGAGTCAGAGATC	0.701										Prostate(3;0.18)																											p.E430G		.											.	.	0			c.A1289G						.																																			SO:0001583	missense	100134444	exon3			GACGGGAGTCAGA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1289A>G	17.37:g.21319943A>G	ENSP00000463778:p.Glu430Gly	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	58	19	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515652	0.64634	.	.	ENSG00000184185	ENST00000331718	D	0.90197	-2.63	5.41	5.41	0.78517	.	0.381500	0.26680	N	0.023059	D	0.94699	0.8290	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94947	0.8096	10	0.59425	D	0.04	.	15.4536	0.75297	1.0:0.0:0.0:0.0	rs5021699	430	Q14500	IRK12_HUMAN	G	430	ENSP00000328150:E430G	ENSP00000328150:E430G	E	+	2	0	KCNJ12	21260536	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.091000	0.94151	2.066000	0.61787	0.528000	0.53228	GAG	A|0.600;G|0.400		0.701	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		G	21319943	A	G	21319943	3	3	5	1	0	0	0	0	1	0	0	0	8073	304	11	4	1291	4	KCNJ12	17	21319943	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	956256	21319943	59875267	490	951											
LHX1	3975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgggcgccaagcggcGgggaccgcgcaccaccatca	14	16	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667																																					p.R181Q		.											.	LHX1-92	0			c.G542A						.						42	47	45					17																	35298051		2203	4300	6503	SO:0001583	missense	3975	exon3			AGCGGCGGGGACC	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.542G>A	17.37:g.35298051G>A	ENSP00000254457:p.Arg181Gln	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	194	172	NM_005568	0	0	0	0	0	Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662446	0.96734	.	.	ENSG00000132130	ENST00000254457	D	0.97209	-4.29	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98295	0.9435	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98951	1.0794	10	0.72032	D	0.01	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	167;181	B4DPA6;P48742	.;LHX1_HUMAN	Q	181	ENSP00000254457:R181Q	ENSP00000254457:R181Q	R	+	2	0	LHX1	32372164	1.000000	0.71417	0.792000	0.32020	0.986000	0.74619	9.573000	0.98181	2.648000	0.89879	0.561000	0.74099	CGG	.		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		A	35298051	G	A	35298051	3	1	5	1	0	0	0	0	1	0	0	0	8799	1116	39	1	552	1	LHX1	17	35298051	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	13978108	35298051	45897159	491	952											
IKZF3	22806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37934013	37934013	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttgatgtgtcttgcctcCgcacttgctagtttggaaaa	10	9	1	1	rs560854650		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:37934013C>A	ENST00000346872.3	-	7	778	c.717G>T	c.(715-717)gcG>gcT	p.A239A	IKZF3_ENST00000583368.1_5'UTR|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000351680.3_Silent_p.A200A|IKZF3_ENST00000377944.3_Silent_p.A96A|IKZF3_ENST00000439016.2_Silent_p.A144A|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000467757.1_Silent_p.A183A|IKZF3_ENST00000439167.2_Silent_p.A166A|IKZF3_ENST00000377958.2_Silent_p.A152A|IKZF3_ENST00000535189.1_Silent_p.A205A|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000394189.2_Silent_p.A57A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	239					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCTTGCCTCCGCACTTGCTA	0.423																																					p.A239A		.											.	IKZF3-971	0			c.G717T						.						145	155	152					17																	37934013		2203	4300	6503	SO:0001819	synonymous_variant	22806	exon7			TGCCTCCGCACTT	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.717G>T	17.37:g.37934013C>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	105	42	NM_012481	0	0	0	0	0	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404714	0.11754	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	T	0.72220	0.3433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72465	-0.4285	4	.	.	.	-0.0253	16.1385	0.81506	0.0:0.8659:0.1341:0.0	.	.	.	.	L	154;193	.	.	R	-	2	0	IKZF3	35187539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	1.396000	0.46663	0.650000	0.86243	CGG	.		0.423	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		A	37934013	C	A	37934013	2	1	5	1	0	0	0	0	0	0	0	1	7643	639	23	2		2	IKZF3	17	37934013	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2635962	37934013	43261197	492	953											
RAPGEFL1	51195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38345578	38345578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaatattcagaggagccCgcggggcgtgaggattccct	13	11	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:38345578C>T	ENST00000456989.2	+	6	658	c.612C>T	c.(610-612)ccC>ccT	p.P204P	RAPGEFL1_ENST00000544503.1_Silent_p.P198P|RAPGEFL1_ENST00000264644.6_Silent_p.P149P|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Silent_p.P149P			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	355					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAGAGGAGCCCGCGGGGCGTG	0.557																																					p.P149P	Esophageal Squamous(28;274 750 6870 14218 42203)	.											.	RAPGEFL1-229	0			c.C447T						.						126	133	131					17																	38345578		2203	4300	6503	SO:0001819	synonymous_variant	51195	exon6			GGAGCCCGCGGGG	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.612C>T	17.37:g.38345578C>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	58	39	NM_016339	0	0	1	3	2		Silent	SNP	ENST00000456989.2	37																																																																																				.		0.557	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38345578	C	T	38345578	2	4	5	1	0	0	0	0	0	0	0	1	13094	639	23	1		1	RAPGEFL1	17	38345578	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	411565	38345578	42849632	493	954											
SMARCE1	6605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38786977	38786977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggttacctgtctccatcGgaatgttctcgtcgtctttc	10	11	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:38786977G>A	ENST00000348513.6	-	10	1796	c.1016C>T	c.(1015-1017)cCg>cTg	p.P339L	SMARCE1_ENST00000578044.1_Missense_Mutation_p.P269L|SMARCE1_ENST00000400122.3_Missense_Mutation_p.P269L|SMARCE1_ENST00000431889.2_Missense_Mutation_p.P321L|SMARCE1_ENST00000544009.1_Missense_Mutation_p.P269L|SMARCE1_ENST00000377808.4_Missense_Mutation_p.P304L|SMARCE1_ENST00000580419.1_Missense_Mutation_p.P304L|KRT222_ENST00000476049.1_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	339	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGTCTCCATCGGAATGTTCTC	0.488																																					p.P339L		.											.	SMARCE1-227	0			c.C1016T						.						387	299	329					17																	38786977		2203	4300	6503	SO:0001583	missense	6605	exon10			TCCATCGGAATGT	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1016C>T	17.37:g.38786977G>A	ENSP00000323967:p.Pro339Leu	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	71	63	NM_003079	0	0	0	0	0	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271067|4.271067	0.80469|0.80469	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024|ENST00000400122	T;T;T|.	0.18810|.	2.19;2.2;2.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.211278|.	0.49916|.	D|.	0.000131|.	T|.	0.59032|.	0.2164|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.39404|.	0.672;0.672;0.672|.	B;B;B|.	0.28553|.	0.091;0.062;0.062|.	T|.	0.52689|.	-0.8542|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4309|19.4309	0.94765|0.94765	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;304;339|.	C0IMW5;C0IMW4;Q969G3|.	.;.;SMCE1_HUMAN|.	L|X	339;269;321;304;133|165	ENSP00000323967:P339L;ENSP00000445370:P321L;ENSP00000367039:P304L|.	ENSP00000323967:P339L|.	P|R	-|-	2|1	0|2	SMARCE1|SMARCE1	36040503|36040503	1.000000|1.000000	0.71417|0.71417	0.618000|0.618000	0.29105|0.29105	0.938000|0.938000	0.57974|0.57974	8.285000|8.285000	0.89914|0.89914	2.663000|2.663000	0.90544|0.90544	0.561000|0.561000	0.74099|0.74099	CCG|CGA	.		0.488	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		A	38786977	G	A	38786977	3	1	5	1	0	0	0	0	1	0	0	0	14825	1116	39	1	227	1	SMARCE1	17	38786977	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	441399	38786977	42408233	494	955											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39324139	39324140	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG													gggcggcagcaggtggtcctINSgcagcagctgggtttgcagc					rs12603046		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39324139_39324140insGCAGCAGGTGGTCAG	ENST00000391356.2	-	1	284_285	c.285_286insCTGACCACCTGCTGC	c.(283-288)tgcagg>tgcCTGACCACCTGCTGCagg	p.94_95insCLTTC		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	94	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTGGTCCTgcagcagctgg	0.614																																					p.R96delinsLTTCCR		.											.	KRTAP4-3-22	0			c.286_287insCTGACCACCTGCTGC						.			851,185,2620		113,2,623,8,167,915						-9.2	0			10	64,1597,6043		3,0,58,27,1543,2221	no	codingComplex	KRTAP4-3	NM_033187.1		116,2,681,35,1710,3136	A1A1,A1A2,A1R,A2A2,A2R,RR		21.5602,28.337,23.7412				915,1782,8663				SO:0001652	inframe_insertion	85290	exon1			TGGTCCTGCAGCA	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.285_286insCTGACCACCTGCTGC	17.37:g.39324139_39324140insGCAGCAGGTGGTCAG	ENSP00000375151:p.Cys94_Cys95insCysLeuThrThrCys	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	285	10	NM_033187	0	0	0	0	0		In_Frame_Ins	INS	ENST00000391356.2	37	CCDS42331.1																																																																																			.		0.614	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			GCAGCAGGTGGTCAG	39324140	-	GCAGCAGGTGGTCAG	39324139	7	5	5	1	0	1	1	0	0	0	0	0	8580	1579	55	0	305	0	KRTAP4-3	17	39324139	In_Frame_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	537162	39324139	41871071	495	956											
KRT33B	3884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39521212	39521212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggagctgtagcGggcctcgctctctgtcagcg	16	12	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39521212G>A	ENST00000251646.3	-	6	965	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	306	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587																																					p.R306C		.											.	KRT33B-90	0			c.C916T						.						47	53	51					17																	39521212		2192	4300	6492	SO:0001583	missense	3884	exon6			TGTAGCGGGCCTC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.916C>T	17.37:g.39521212G>A	ENSP00000251646:p.Arg306Cys	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	107	104	NM_002279	0	0	0	0	0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.288481	0.80914	.	.	ENSG00000131738	ENST00000251646	D	0.90563	-2.69	4.85	4.85	0.62838	Filament (1);	0.000000	0.64402	D	0.000003	D	0.96087	0.8725	M	0.90705	3.14	0.47905	D	0.999541	D	0.89917	1.0	D	0.74023	0.982	D	0.96726	0.9536	10	0.87932	D	0	.	17.494	0.87712	0.0:0.0:1.0:0.0	.	306	Q14525	KT33B_HUMAN	C	306	ENSP00000251646:R306C	ENSP00000251646:R306C	R	-	1	0	KRT33B	36774738	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.576000	0.53878	2.666000	0.90696	0.650000	0.86243	CGC	.		0.587	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		A	39521212	G	A	39521212	3	1	5	1	0	0	0	0	1	0	0	0	8497	1116	39	1	306	1	KRT33B	17	39521212	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	197073	39521212	41673998	496	957											
KRT31	3881	bcgsc.ca	37	chr17	39551197	39551197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactcctggttctgccGctccaggtcactgcggatct	11	14	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39551197G>A	ENST00000251645.2	-	6	1052	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	334	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGGTTCTGCCGCTCCAGGTCA	0.627																																					p.R334W		.											.	KRT31-90	0			c.C1000T						.						106	100	102					17																	39551197		2203	4300	6503	SO:0001583	missense	3881	exon6			TCTGCCGCTCCAG	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1000C>T	17.37:g.39551197G>A	ENSP00000251645:p.Arg334Trp	Somatic	126	2		WXS	Illumina GAIIx	Phase_I	125	11	NM_002277	0	0	0	0	0	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	19.53	3.845430	0.71603	.	.	ENSG00000094796	ENST00000251645	D	0.90444	-2.67	5.52	3.28	0.37604	Filament (1);	0.000000	0.64402	D	0.000016	D	0.96346	0.8808	H	0.96518	3.835	0.35005	D	0.756314	D	0.89917	1.0	D	0.85130	0.997	D	0.98844	1.0756	10	0.87932	D	0	.	10.9631	0.47397	0.0:0.104:0.5747:0.3213	.	334	Q15323	K1H1_HUMAN	W	334	ENSP00000251645:R334W	ENSP00000251645:R334W	R	-	1	2	KRT31	36804723	0.956000	0.32656	1.000000	0.80357	0.994000	0.84299	1.033000	0.30191	1.306000	0.44926	0.650000	0.86243	CGG	.		0.627	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		A	39551197	G	A	39551197	3	1	5	1	0	0	0	0	1	0	0	0	8494	1086	38	1	258	1	KRT31	17	39551197	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	29985	39551197	41644013	497	958											
KRT32	3882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	39623234	39623234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcctgctccagctgcCgcaccctcgtcaggtagctg	9	17	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39623234C>T	ENST00000225899.3	-	1	447	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	115	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCCAGCTGCCGCACCCTCGT	0.597																																					p.R115Q		.											.	KRT32-90	0			c.G344A						.						95	90	92					17																	39623234		2203	4300	6503	SO:0001583	missense	3882	exon1			AGCTGCCGCACCC	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.344G>A	17.37:g.39623234C>T	ENSP00000225899:p.Arg115Gln	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	86	38	NM_002278	0	0	0	0	0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476124	0.63737	.	.	ENSG00000108759	ENST00000225899	D	0.92099	-2.97	5.08	5.08	0.68730	Filament (1);	0.000000	0.37483	N	0.002063	D	0.96901	0.8988	M	0.91717	3.235	0.36347	D	0.859832	D	0.89917	1.0	D	0.76575	0.988	D	0.99943	1.1439	10	0.87932	D	0	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	115	Q14532	K1H2_HUMAN	Q	115	ENSP00000225899:R115Q	ENSP00000225899:R115Q	R	-	2	0	KRT32	36876760	0.906000	0.30813	0.837000	0.33122	0.015000	0.08874	1.902000	0.39848	2.526000	0.85167	0.462000	0.41574	CGG	.		0.597	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		T	39623234	C	T	39623234	3	4	5	1	0	0	0	0	1	0	0	0	8495	652	23	1	1030	1	KRT32	17	39623234	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	72037	39623234	41571976	498	959											
KRT14	3861	broad.mit.edu	37	chr17	39743071	39743071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggaggtgaactggcGgctgcaggtggtcatggtgc	20	7	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39743071G>A	ENST00000167586.6	-	1	102	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	6	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.652																																					p.R6C		.											.	KRT14-91	0			c.C16T						.						6	6	6					17																	39743071		1923	3834	5757	SO:0001583	missense	3861	exon1			ACTGGCGGCTGCA	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.16C>T	17.37:g.39743071G>A	ENSP00000167586:p.Arg6Cys	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	39	4	NM_000526	0	0	0	0	0	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.439039	0.43326	.	.	ENSG00000186847	ENST00000167586	D	0.84370	-1.84	4.9	3.86	0.44501	.	0.000000	0.49305	D	0.000143	D	0.86973	0.6062	L	0.38175	1.15	0.45295	D	0.998294	D	0.89917	1.0	D	0.64410	0.925	D	0.87147	0.2206	10	0.51188	T	0.08	.	13.774	0.63041	0.0:0.0:0.776:0.224	.	6	P02533	K1C14_HUMAN	C	6	ENSP00000167586:R6C	ENSP00000167586:R6C	R	-	1	0	KRT14	36996597	0.993000	0.37304	1.000000	0.80357	0.917000	0.54804	1.532000	0.36029	2.431000	0.82371	0.549000	0.68633	CGC	.		0.652	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		A	39743071	G	A	39743071	3	1	5	1	0	0	0	0	1	0	0	0	8478	1116	39	1	1434	1	KRT14	17	39743071	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	119837	39743071	41452139	499	960											
KRT17	3872	broad.mit.edu;bcgsc.ca	37	chr17	39775873	39775873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctggtggacctgctcGcgggaggagatgaccttgcc	17	10	1	2	rs575174355		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:39775873G>A	ENST00000311208.8	-	8	1339	c.1272C>T	c.(1270-1272)cgC>cgT	p.R424R	JUP_ENST00000540235.1_Silent_p.R583R	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	424	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGACCTGCTCGCGGGAGGAGA	0.652													g|||	1	0.000199681	0	0	5008	,	,		17112	0		0	False		,,,				2504	0.001				p.R424R	Pancreas(92;1242 2086 39193 50508)	.											.	KRT17-92	0			c.C1272T						.						93	92	92					17																	39775873		2203	4300	6503	SO:0001819	synonymous_variant	3872	exon8			CTGCTCGCGGGAG	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1272C>T	17.37:g.39775873G>A		Somatic	493	0		WXS	Illumina GAIIx	Phase_I	707	20	NM_000422	0	0	3	3	0	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																			.		0.652	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		A	39775873	G	A	39775873	2	1	5	1	0	0	0	0	0	0	0	1	8481	1074	38	1		1	KRT17	17	39775873	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	32802	39775873	41419337	500	961											
STAT5B	6777	hgsc.bcm.edu;bcgsc.ca	37	chr17	40364022	40364023	+	Frame_Shift_Del	DEL	AC	AC	-													cctgttgaactgggaccaggAcacagacaggccactgtagt							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40364022_40364023delAC	ENST00000293328.3	-	13	1827_1828	c.1659_1660delGT	c.(1657-1662)gtgtccfs	p.S554fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	554					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|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)|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)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|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 cellular component movement (GO:0051272)|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 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 natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|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)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|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(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGGACCAGGACACAGACAGGC	0.604																																					p.553_554del		.											.	STAT5B-850	0			c.1659_1660del						.																																			SO:0001589	frameshift_variant	6777	exon13			ACCAGGACACAGA	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1659_1660delGT	17.37:g.40364024_40364025delAC	ENSP00000293328:p.Ser554fs	Somatic	303	3		WXS	Illumina GAIIx	Phase_I	218	197	NM_012448	0	0	0	0	0	Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	CCDS11423.1																																																																																			.		0.604	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		-	40364023	AC	-	40364022	7	5	5	1	0	1	0	1	0	0	0	0	15316	275	10	0	731	0	STAT5B	17	40364022	Frame_Shift_Del	DEL	AC	TCGA-OR-A5J5-01A-11D-A29I-10	588149	40364022	40831188	501	962											
CNTNAP1	8506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40838076	40838076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggtggaccgatttggcCgcgatgtaaatttcaccctg	13	10	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40838076C>T	ENST00000264638.4	+	6	1034	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	273	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCGATTTGGCCGCGATGTAAA	0.572																																					p.R273C		.											.	CNTNAP1-525	0			c.C817T						.						201	189	193					17																	40838076		2203	4300	6503	SO:0001583	missense	8506	exon6			TTTGGCCGCGATG	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.817C>T	17.37:g.40838076C>T	ENSP00000264638:p.Arg273Cys	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	164	76	NM_003632	0	0	0	1	1		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514085	0.64522	.	.	ENSG00000108797	ENST00000264638	T	0.79352	-1.26	5.38	4.37	0.52481	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.090096	0.47852	D	0.000204	D	0.89949	0.6863	M	0.91406	3.205	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.92174	0.5746	10	0.87932	D	0	.	15.484	0.75551	0.1389:0.8611:0.0:0.0	.	273	P78357	CNTP1_HUMAN	C	273	ENSP00000264638:R273C	ENSP00000264638:R273C	R	+	1	0	CNTNAP1	38091602	0.998000	0.40836	0.989000	0.46669	0.193000	0.23685	3.797000	0.55514	2.498000	0.84270	0.561000	0.74099	CGC	.		0.572	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		T	40838076	C	T	40838076	3	4	5	1	0	0	0	0	1	0	0	0	3653	652	23	1	839	1	CNTNAP1	17	40838076	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	474054	40838076	40357134	502	963											
WNK4	65266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40948205	40948205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgaagatttgtacagcCggctggggaagcagccccca	12	10	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:40948205C>T	ENST00000246914.5	+	17	3517	c.3496C>T	c.(3496-3498)Cgg>Tgg	p.R1166W	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1166					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)		TTTGTACAGCCGGCTGGGGAA	0.597																																					p.R1166W	Esophageal Squamous(6;201 374 4964 23855 42828)	.											.	WNK4-336	0			c.C3496T						.						34	41	38					17																	40948205		2203	4300	6503	SO:0001583	missense	65266	exon17			TACAGCCGGCTGG	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.3496C>T	17.37:g.40948205C>T	ENSP00000246914:p.Arg1166Trp	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	52	47	NM_032387	0	0	0	2	2	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148409	0.37923	.	.	ENSG00000126562	ENST00000246914	T	0.78816	-1.21	4.61	1.14	0.20703	.	0.000000	0.39985	N	0.001219	D	0.85544	0.5721	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86701	0.1929	10	0.87932	D	0	-14.1368	13.9491	0.64104	0.5049:0.4951:0.0:0.0	.	1166	Q96J92	WNK4_HUMAN	W	1166	ENSP00000246914:R1166W	ENSP00000246914:R1166W	R	+	1	2	WNK4	38201731	0.974000	0.33945	1.000000	0.80357	0.973000	0.67179	0.889000	0.28282	0.514000	0.28300	0.555000	0.69702	CGG	.		0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40948205	C	T	40948205	3	4	5	1	0	0	0	0	1	0	0	0	17429	643	23	1	3562	1	WNK4	17	40948205	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	110129	40948205	40247005	503	964											
AOC3	8639	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	41004636	41004636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcccccaagacaataCgtgatgccttttgtgtgttt	9	12	0	2	rs368455364		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:41004636C>T	ENST00000308423.2	+	1	1436	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	426			R -> H (in dbSNP:rs33986943). {ECO:0000269|Ref.6}.		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAAGACAATACGTGATGCCTT	0.587																																					p.R426C	NSCLC(3;192 220 10664 11501 16477)	.											.	AOC3-516	0			c.C1276T						.	C	CYS/ARG	0,4406		0,0,2203	93	83	86		1276	4.6	0	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	AOC3	NM_003734.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/764	41004636	1,13005	2203	4300	6503	SO:0001583	missense	8639	exon1			ACAATACGTGATG	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1276C>T	17.37:g.41004636C>T	ENSP00000312326:p.Arg426Cys	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	168	9	NM_003734	0	0	3	3	0	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092728	0.36952	0.0	1.16E-4	ENSG00000131471	ENST00000308423	T	0.04119	3.7	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.701778	0.14252	N	0.331410	T	0.12433	0.0302	L	0.59436	1.845	0.09310	N	0.999999	D	0.71674	0.998	P	0.54706	0.759	T	0.06250	-1.0837	10	0.66056	D	0.02	.	10.9125	0.47116	0.3106:0.6894:0.0:0.0	.	426	Q16853	AOC3_HUMAN	C	426	ENSP00000312326:R426C	ENSP00000312326:R426C	R	+	1	0	AOC3	38258162	0.000000	0.05858	0.005000	0.12908	0.645000	0.38454	1.361000	0.34136	2.591000	0.87537	0.591000	0.81541	CGT	.		0.587	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		T	41004636	C	T	41004636	3	4	5	1	0	0	0	0	1	0	0	0	728	536	19	1	1278	1	AOC3	17	41004636	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	56431	41004636	40190574	504	965											
HDAC5	10014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42170066	42170066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgcggagggggaagtcGtctcgactgtcgtagggccc	17	9	1	0	rs199980075		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:42170066G>A	ENST00000393622.2	-	7	1081	c.750C>T	c.(748-750)gaC>gaT	p.D250D	HDAC5_ENST00000586802.1_Silent_p.D250D|HDAC5_ENST00000336057.5_Silent_p.D250D|HDAC5_ENST00000225983.6_Silent_p.D251D	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	250					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)		GGGGGAAGTCGTCTCGACTGT	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		14517	0		0	False		,,,				2504	0				p.D251D		.											.	HDAC5-227	0			c.C753T						.	G	,	5,4395		0,5,2195	36	41	39		753,750	2.1	1	17		39	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	HDAC5	NM_001015053.1,NM_005474.4	,	0,5,6493	AA,AG,GG		0.0,0.1136,0.0385	,	251/1124,250/1123	42170066	5,12991	2200	4298	6498	SO:0001819	synonymous_variant	10014	exon7			GAAGTCGTCTCGA	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.750C>T	17.37:g.42170066G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	69	60	NM_001015053	0	0	0	8	8	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	CCDS45696.1																																																																																			G|0.999;A|0.000		0.632	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		A	42170066	G	A	42170066	2	1	5	1	0	0	0	0	0	0	0	1	7037	1136	40	1		1	HDAC5	17	42170066	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1165430	42170066	39025144	505	966											
TTLL6	284076	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	46878650	46878650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcctagggaaaaagCggaaatctttagggaacatc	11	8	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:46878650C>T	ENST00000393382.3	-	5	719	c.578G>A	c.(577-579)cGc>cAc	p.R193H		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						AGGGAAAAAGCGGAAATCTTT	0.537																																					p.R193H		.											.	TTLL6-90	0			c.G578A						.						108	110	110					17																	46878650		692	1591	2283	SO:0001583	missense	284076	exon5			AAAAAGCGGAAAT	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.578G>A	17.37:g.46878650C>T	ENSP00000377043:p.Arg193His	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	122	46	NM_001130918	0	0	0	1	1		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	5.941	0.357662	0.11239	.	.	ENSG00000170703	ENST00000440941;ENST00000393382	.	.	.	5.31	3.07	0.35406	.	0.080536	0.48286	N	0.000195	T	0.13756	0.0333	N	0.05012	-0.13	0.26757	N	0.970081	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.06891	T	0.86	.	6.8338	0.23925	0.1339:0.0755:0.0:0.7906	.	145	Q8N841	TTLL6_HUMAN	H	193;145	.	ENSP00000377043:R145H	R	-	2	0	TTLL6	44233649	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.638000	0.46562	0.302000	0.22762	-0.294000	0.09567	CGC	.		0.537	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		T	46878650	C	T	46878650	3	4	5	1	0	0	0	0	1	0	0	0	16780	768	27	1	2222	1	TTLL6	17	46878650	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4708584	46878650	34316560	506	967											
ZNF652	22834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	47395005	47395005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggcacttgaccacgaCggctatcttcttgtgccatt	9	11	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:47395005C>T	ENST00000362063.2	-	2	401	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZNF652_ENST00000430262.2_Missense_Mutation_p.R28H	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTGACCACGACGGCTATCTTC	0.473																																					p.R28H		.											.	ZNF652-91	0			c.G83A						.						85	68	73					17																	47395005		2203	4300	6503	SO:0001583	missense	22834	exon2			CCACGACGGCTAT	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.83G>A	17.37:g.47395005C>T	ENSP00000354686:p.Arg28His	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	218	120	NM_001145365	0	0	0	0	0	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	0.584	-0.835727	0.02713	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98862	-5.19;-5.19	5.76	0.981	0.19756	.	0.355141	0.33161	N	0.005208	D	0.94272	0.8160	N	0.12182	0.205	0.27663	N	0.947027	B	0.02656	0.0	B	0.04013	0.001	D	0.89133	0.3511	10	0.42905	T	0.14	-3.6101	10.7031	0.45939	0.0:0.676:0.0:0.324	.	28	Q9Y2D9	ZN652_HUMAN	H	28	ENSP00000354686:R28H;ENSP00000416305:R28H	ENSP00000354686:R28H	R	-	2	0	ZNF652	44750004	0.490000	0.26012	0.928000	0.36995	0.992000	0.81027	0.931000	0.28871	0.348000	0.23949	0.655000	0.94253	CGT	.		0.473	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		T	47395005	C	T	47395005	3	4	5	1	0	0	0	0	1	0	0	0	18113	536	19	1	1757	1	ZNF652	17	47395005	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	516355	47395005	33800205	507	968											
YPEL2	388403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	57430826	57430826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgccctcctgccaccGgacctacagctgcattcact	6	17	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:57430826G>A	ENST00000312655.4	+	2	374	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	YPEL2_ENST00000581865.1_Intron|YPEL2_ENST00000585166.1_Missense_Mutation_p.R19Q	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	19						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCCTGCCACCGGACCTACAGC	0.552																																					p.R19Q	Melanoma(86;1113 1364 8518 42220 42625)	.											.	YPEL2-90	0			c.G56A						.						164	133	143					17																	57430826		2203	4300	6503	SO:0001583	missense	388403	exon2			GCCACCGGACCTA	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.56G>A	17.37:g.57430826G>A	ENSP00000312272:p.Arg19Gln	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	123	112	NM_001005404	0	0	0	0	0	A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605098	0.96626	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.72479	2.2	0.80722	D	1	D	0.63880	0.993	P	0.55455	0.776	T	0.76266	-0.3022	9	0.62326	D	0.03	0.133	19.545	0.95291	0.0:0.0:1.0:0.0	.	19	Q96QA6	YPEL2_HUMAN	Q	19	.	ENSP00000312272:R19Q	R	+	2	0	YPEL2	54785608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGG	.		0.552	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		A	57430826	G	A	57430826	3	1	5	1	0	0	0	0	1	0	0	0	17539	1116	39	1	58	1	YPEL2	17	57430826	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	10035821	57430826	23764384	508	969											
STRADA	92335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	61780974	61780974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctcagaactcccaatcGtccacctccagctcttccag	7	17	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:61780974G>A	ENST00000336174.6	-	13	1393	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	STRADA_ENST00000392950.4_3'UTR|LIMD2_ENST00000578402.1_5'Flank|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000375840.4_Silent_p.D369D|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000447001.3_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	427					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ACTCCCAATCGTCCACCTCCA	0.592																																					p.D427D		.											.	STRADA-547	0			c.C1281T						.						62	56	58					17																	61780974		2203	4300	6503	SO:0001819	synonymous_variant	92335	exon13			CCAATCGTCCACC	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1281C>T	17.37:g.61780974G>A		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	86	23	NM_001003787	0	0	11	15	4	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	CCDS32703.1																																																																																			.		0.592	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			A	61780974	G	A	61780974	2	1	5	1	0	0	0	0	0	0	0	1	15371	1136	40	1		1	STRADA	17	61780974	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4350148	61780974	19414236	509	970											
GRIN2C	2905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72843589	72843589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctggtggtgccccgcGggttctcgatgggcactgag	16	11	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:72843589G>A	ENST00000293190.5	-	9	2005	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P620L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	620					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGCCCCGCGGGTTCTCGAT	0.607																																					p.P620L		.											.	GRIN2C-228	0			c.C1859T						.						80	72	74					17																	72843589		2203	4300	6503	SO:0001583	missense	2905	exon9			CCCCGCGGGTTCT		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1859C>T	17.37:g.72843589G>A	ENSP00000293190:p.Pro620Leu	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	114	43	NM_000835	0	0	7	22	15	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721522	0.48728	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.58060	0.36	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82851	-0.0253	10	0.87932	D	0	.	16.89	0.86084	0.0:0.0:1.0:0.0	.	654;620	Q8IW23;Q14957	.;NMDE3_HUMAN	L	620;654	ENSP00000293190:P620L	ENSP00000293190:P620L	P	-	2	0	GRIN2C	70355184	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.588000	0.98232	2.357000	0.79964	0.561000	0.74099	CCG	.		0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72843589	G	A	72843589	3	1	5	1	0	0	0	0	1	0	0	0	6808	1116	39	1	1862	1	GRIN2C	17	72843589	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	11062615	72843589	8351621	510	971											
ITGB4	3691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	73750779	73750779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacacgtgccccaccgcGtgctaagcacatcctccacc	7	21	0	0	rs546010811	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:73750779G>A	ENST00000200181.3	+	34	4628	c.4441G>A	c.(4441-4443)Gtg>Atg	p.V1481M	ITGB4_ENST00000339591.3_Missense_Mutation_p.V1411M|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.V1411M|ITGB4_ENST00000579662.1_Missense_Mutation_p.V1411M|ITGB4_ENST00000449880.2_Missense_Mutation_p.V1411M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1481					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)			GCCCCACCGCGTGCTAAGCAC	0.622													g|||	2	0.000399361	0	0	5008	,	,		20650	0		0	False		,,,				2504	0.002				p.V1481M		.											.	ITGB4-227	0			c.G4441A						.						287	166	207					17																	73750779		2203	4300	6503	SO:0001583	missense	3691	exon34			CACCGCGTGCTAA		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.4441G>A	17.37:g.73750779G>A	ENSP00000200181:p.Val1481Met	Somatic	178	1		WXS	Illumina GAIIx	Phase_I	164	151	NM_000213	0	0	0	1	1	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	g	5.160	0.215063	0.09810	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76060	-0.99;-0.94;-0.94	5.39	-0.352	0.12598	.	0.656417	0.14341	N	0.325708	T	0.55893	0.1949	L	0.27053	0.805	0.09310	N	0.999994	B;B;B	0.20368	0.044;0.012;0.007	B;B;B	0.19946	0.027;0.003;0.003	T	0.42766	-0.9432	10	0.40728	T	0.16	.	5.5283	0.16970	0.2745:0.0:0.5992:0.1263	.	1411;1411;1481	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	M	1481;1411;1411	ENSP00000200181:V1481M;ENSP00000344079:V1411M;ENSP00000400217:V1411M	ENSP00000200181:V1481M	V	+	1	0	ITGB4	71262374	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.471000	0.06631	-0.014000	0.14175	-0.215000	0.12644	GTG	.		0.622	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73750779	G	A	73750779	3	1	5	1	0	0	0	0	1	0	0	0	7924	1145	40	1	4571	1	ITGB4	17	73750779	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	907190	73750779	7444431	511	972											
ZACN	353174	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	74077421	74077421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcaagagggaatacGtagtttatgatctgaagacc	12	5	2	5	rs143316623	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:74077421G>A	ENST00000334586.5	+	6	690	c.607G>A	c.(607-609)Gta>Ata	p.V203I	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	203					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						GAGGGAATACGTAGTTTATGA	0.562													G|||	10	0.00199681	0.0076	0	5008	,	,		18766	0		0	False		,,,				2504	0				p.V203I		.											.	ZACN-90	0			c.G607A						.	G	,,,,,ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	183	176	178		,,,,,607	2.6	0	17	dbSNP_134	178	1,8599		0,1,4299	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,,,,possibly-damaging	,,,,,203/413	74077421	16,12990	2203	4300	6503	SO:0001583	missense	353174	exon6			GAATACGTAGTTT	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.607G>A	17.37:g.74077421G>A	ENSP00000334854:p.Val203Ile	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	195	14	NM_180990	0	0	73	84	11	Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056102	0.55325	0.003404	1.16E-4	ENSG00000186919	ENST00000334586	T	0.77750	-1.12	4.73	2.6	0.31112	Neurotransmitter-gated ion-channel ligand-binding (2);	0.340242	0.24465	N	0.038296	T	0.68869	0.3048	M	0.63428	1.95	0.09310	N	0.999996	P	0.44627	0.839	B	0.39935	0.314	T	0.64711	-0.6343	10	0.59425	D	0.04	-17.6667	3.7632	0.08611	0.2295:0.207:0.5636:0.0	.	203	Q401N2	ZACN_HUMAN	I	203	ENSP00000334854:V203I	ENSP00000334854:V203I	V	+	1	0	ZACN	71589016	0.000000	0.05858	0.002000	0.10522	0.852000	0.48524	0.386000	0.20702	1.215000	0.43411	0.561000	0.74099	GTA	G|0.998;A|0.002		0.562	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		A	74077421	G	A	74077421	3	1	5	1	0	0	0	0	1	0	0	0	17559	1145	40	1	629	1	ZACN	17	74077421	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	326642	74077421	7117789	512	973											
TNRC6C	57690	bcgsc.ca	37	chr17	76045635	76045635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagcacagaaccacaaacGtccacttctcagaatgtgtc	8	12	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76045635G>A	ENST00000588061.1	+	5	1219	c.492G>A	c.(490-492)acG>acA	p.T164T	TNRC6C_ENST00000588847.1_Silent_p.T164T|TNRC6C_ENST00000544502.1_Silent_p.T164T|TNRC6C_ENST00000301624.4_Silent_p.T164T|TNRC6C_ENST00000541771.1_Silent_p.T164T|TNRC6C_ENST00000335749.4_Silent_p.T164T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	164	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACCACAAACGTCCACTTCTC	0.483																																					p.T164T		.											.	TNRC6C-24	0			c.G492A						.						124	125	124					17																	76045635		2048	4192	6240	SO:0001819	synonymous_variant	57690	exon4			ACAAACGTCCACT	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.492G>A	17.37:g.76045635G>A		Somatic	73	2		WXS	Illumina GAIIx	Phase_I	42	37	NM_018996	0	0	0	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		A	76045635	G	A	76045635	2	1	5	1	0	0	0	0	0	0	0	1	16389	1132	40	1		1	TNRC6C	17	76045635	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1968214	76045635	5149575	513	974											
TMC6	11322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76118720	76118720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatattgtcctgctggaggCgggaggcccgcttctgcgtc	15	11	1	0	rs150505551	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76118720C>T	ENST00000590602.1	-	10	1352	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	TMC6_ENST00000306591.7_Missense_Mutation_p.R398H|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322933.4_Missense_Mutation_p.R37H|TMC6_ENST00000322914.3_Missense_Mutation_p.R398H|TMC6_ENST00000392467.3_Missense_Mutation_p.R398H|TMC6_ENST00000591436.1_Missense_Mutation_p.R37H|TMC6_ENST00000589553.1_Missense_Mutation_p.R171H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	398					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGCTGGAGGCGGGAGGCCCG	0.657																																					p.R398H		.											.	TMC6-90	0			c.G1193A						.	C	HIS/ARG,HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	50	44	46		1193,1193	4	1	17	dbSNP_134	46	0,8600		0,0,4300	no	missense,missense	TMC6	NM_001127198.1,NM_007267.6	29,29	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	398/806,398/806	76118720	2,13000	2201	4300	6501	SO:0001583	missense	11322	exon10			TGGAGGCGGGAGG	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1193G>A	17.37:g.76118720C>T	ENSP00000465261:p.Arg398His	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	120	38	NM_001127198	0	0	1	1	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364820	0.61513	4.54E-4	0.0	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591;ENST00000322933	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.96	3.96	0.45880	.	0.316995	0.31909	N	0.006868	T	0.64713	0.2623	M	0.69823	2.125	0.09310	N	1	D;D;D;P;D	0.89917	1.0;1.0;0.998;0.721;0.997	D;D;P;B;P	0.72625	0.978;0.978;0.828;0.115;0.881	T	0.56541	-0.7962	10	0.62326	D	0.03	-10.2286	4.8805	0.13677	0.2127:0.6764:0.0:0.1108	.	398;171;398;398;37	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;.;TMC6_HUMAN;.	H	398;398;398;37	ENSP00000313408:R398H;ENSP00000376260:R398H;ENSP00000306405:R398H;ENSP00000313479:R37H	ENSP00000306405:R398H	R	-	2	0	TMC6	73630315	0.039000	0.19947	0.975000	0.42487	0.986000	0.74619	0.508000	0.22692	2.021000	0.59480	0.462000	0.41574	CGC	C|1.000;T|0.000		0.657	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			T	76118720	C	T	76118720	3	4	5	1	0	0	0	0	1	0	0	0	16036	768	27	1	1268	1	TMC6	17	76118720	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	73085	76118720	5076490	514	975											
CYTH1	9267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggcaaaggagaggaCgtaacaagtatctaaagatg	13	4	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:76695039C>T	ENST00000446868.3	-	8	632	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589297.1_Missense_Mutation_p.V129I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I			Q15438	CYH1_HUMAN	cytohesin 1	188	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478																																					p.V188I		.											.	CYTH1-228	0			c.G562A						.						203	197	199					17																	76695039		2203	4300	6503	SO:0001583	missense	9267	exon8			AGAGGACGTAACA	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.562G>A	17.37:g.76695039C>T	ENSP00000389095:p.Val188Ile	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	104	48	NM_017456	0	0	0	0	0	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481344	0.44147	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.056226	0.64402	D	0.000001	T	0.34890	0.0913	N	0.22421	0.69	0.49915	D	0.999838	B;B	0.15141	0.012;0.01	B;B	0.23419	0.046;0.044	T	0.12091	-1.0561	10	0.31617	T	0.26	.	12.4059	0.55439	0.0:0.9231:0.0:0.0769	.	188;188	Q15438;Q15438-2	CYH1_HUMAN;.	I	188;188;129;129;188;25	ENSP00000389095:V188I;ENSP00000354398:V188I	ENSP00000262763:V188I	V	-	1	0	CYTH1	74206634	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.853000	0.55941	2.475000	0.83589	0.591000	0.81541	GTC	.		0.478	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		T	76695039	C	T	76695039	3	4	5	1	0	0	0	0	1	0	0	0	4212	536	19	1	658	1	CYTH1	17	76695039	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	576319	76695039	4500171	515	976											
RPTOR	57521	bcgsc.ca	37	chr17	78599562	78599562	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgatgtggtgaagacCacgccctgtgcacgcttgga	12	14	0	2	rs17848685	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:78599562C>G	ENST00000306801.3	+	2	596	c.234C>G	c.(232-234)acC>acG	p.T78T	RPTOR_ENST00000570891.1_Silent_p.T78T|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Silent_p.T78T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	78					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGGTGAAGACCACGCCCTGTG	0.552													C|||	579	0.115615	0.0431	0.1239	5008	,	,		13519	0.0565		0.2137	False		,,,				2504	0.1677				p.T78T		.											.	RPTOR-847	0			c.C234G						.	C	,	304,4102	165.1+/-196.6	10,284,1909	212	162	178		234,234	1.7	1	17	dbSNP_123	178	1895,6705	336.0+/-321.7	209,1477,2614	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	219,1761,4523	GG,GC,CC		22.0349,6.8997,16.9076	,	78/1178,78/1336	78599562	2199,10807	2203	4300	6503	SO:0001819	synonymous_variant	57521	exon2			GAAGACCACGCCC		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.234C>G	17.37:g.78599562C>G		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	170	7	NM_001163034	0	0	0	0	0	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																			C|0.836;G|0.164		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		G	78599562	C	G	78599562	2	3	5	1	0	0	0	0	0	0	0	1	13710	581	21	3		3	RPTOR	17	78599562	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1904523	78599562	2595648	516	977											
BAIAP2	10458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79031712	79031712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccaaaggctactttgaCgccctggtgaagatggggga	15	9	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79031712C>T	ENST00000321300.6	+	3	255	c.162C>T	c.(160-162)gaC>gaT	p.D54D	BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000575245.1_Silent_p.D87D|BAIAP2_ENST00000428708.2_Silent_p.D54D|BAIAP2_ENST00000321280.7_Silent_p.D54D|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.D54D|BAIAP2_ENST00000435091.3_Silent_p.D54D	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	54	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				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)			GCTACTTTGACGCCCTGGTGA	0.602																																					p.D54D		.											.	BAIAP2-90	0			c.C162T						.						50	47	48					17																	79031712		2203	4300	6503	SO:0001819	synonymous_variant	10458	exon3			CTTTGACGCCCTG	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.162C>T	17.37:g.79031712C>T		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	23	20	NM_001144888	0	0	2	5	3	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	CCDS11775.1																																																																																			.		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			T	79031712	C	T	79031712	2	4	5	1	0	0	0	0	0	0	0	1	1302	535	19	1		1	BAIAP2	17	79031712	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	432150	79031712	2163498	517	978											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.A438T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	5	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	64403	79096115	2099095	518	979											
SLC38A10	124565	hgsc.bcm.edu	37	chr17	79219637	79219637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccggcctctggccccccgGgacagctcgtttgagcccca	12	18	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:79219637G>T	ENST00000374759.3	-	16	3462	c.3079C>A	c.(3079-3081)Ccg>Acg	p.P1027T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1027					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCCCCCCGGGACAGCTCGT	0.697																																					p.P1027T		.											.	SLC38A10-70	0			c.C3079A						.						21	26	25					17																	79219637		1941	4116	6057	SO:0001583	missense	124565	exon16			CCCCCGGGACAGC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3079C>A	17.37:g.79219637G>T	ENSP00000363891:p.Pro1027Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	96	90	NM_001037984	1	0	5	53	47	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904422	0.52333	.	.	ENSG00000157637	ENST00000374759	T	0.11063	2.81	3.18	2.16	0.27623	.	0.903777	0.08840	U	0.886013	T	0.28566	0.0707	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.03784	-1.1004	10	0.72032	D	0.01	-5.5339	11.1838	0.48644	0.0:0.1874:0.8126:0.0	.	1027	Q9HBR0	S38AA_HUMAN	T	1027	ENSP00000363891:P1027T	ENSP00000363891:P1027T	P	-	1	0	SLC38A10	76834232	0.300000	0.24435	0.054000	0.19295	0.034000	0.12701	3.454000	0.52986	0.868000	0.35678	0.591000	0.81541	CCG	.		0.697	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		T	79219637	G	T	79219637	3	4	5	1	0	0	0	0	1	0	0	0	14647	1232	43	3	284	3	SLC38A10	17	79219637	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	123522	79219637	1975573	519	980											
DUS1L	64118	bcgsc.ca;mdanderson.org	37	chr17	80019852	80019852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtgcgtccgtgcaccGtcagcaactaggacagagca	12	13	1	1	rs138482688		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr17:80019852G>A	ENST00000354321.7	-	5	1003	c.518C>T	c.(517-519)aCg>aTg	p.T173M	DUS1L_ENST00000306796.5_Missense_Mutation_p.T173M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	173							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	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)			TCCGTGCACCGTCAGCAACTA	0.672																																					p.T173M		.											.	DUS1L-91	0			c.C518T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	87	78	81		518	4.1	1	17	dbSNP_134	81	0,8600		0,0,4300	no	missense	DUS1L	NM_022156.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	173/474	80019852	1,13005	2203	4300	6503	SO:0001583	missense	64118	exon6			TGCACCGTCAGCA		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.518C>T	17.37:g.80019852G>A	ENSP00000346280:p.Thr173Met	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	63	59	NM_022156	0	0	0	0	0	A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832443	0.32421	2.27E-4	0.0	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.38560	1.13;1.13;1.13	4.12	4.12	0.48240	Aldolase-type TIM barrel (1);	0.050500	0.85682	D	0.000000	T	0.77980	0.4212	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.78314	0.964;0.991;0.963	D	0.87893	0.2685	10	0.87932	D	0	-10.6027	16.5301	0.84355	0.0:0.0:1.0:0.0	.	46;173;42	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	173;173;46;41	ENSP00000346280:T173M;ENSP00000303515:T173M;ENSP00000445110:T41M	ENSP00000303515:T173M	T	-	2	0	DUS1L	77613141	1.000000	0.71417	0.954000	0.39281	0.445000	0.32107	8.683000	0.91236	2.122000	0.65172	0.557000	0.71058	ACG	G|1.000;A|0.000		0.672	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		A	80019852	G	A	80019852	3	1	5	1	0	0	0	0	1	0	0	0	4819	1145	40	1	939	1	DUS1L	17	80019852	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	800215	80019852	1175358	520	981											
EMILIN2	84034	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttacattgaggaaacccttCggggcgccattaatggagag	12	8	0	2	rs546388595	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					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)	p.R476W(1)		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)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0	0.0014	5008	,	,		21889	0		0	False		,,,				2504	0.002				p.R476W		.											.	EMILIN2-93	1	Substitution - Missense(1)	large_intestine(1)	c.C1426T						.						87	96	93					18																	2891551		2203	4300	6503	SO:0001583	missense	84034	exon4			ACCCTTCGGGGCG	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.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp	Somatic	152	2		WXS	Illumina GAIIx	Phase_I	117	48	NM_032048	0	0	0	0	0	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG	.		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2891551	C	T	2891551	3	4	5	1	0	0	0	0	1	0	0	0	5110	875	31	1	1440	1	EMILIN2	18	2891551	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10		2891551	75185697	521	982											
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	29104699	29104699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaaatcaagtcaacGtagaagttacgcgcataaaa	8	6	2	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:29104699G>A	ENST00000261590.8	+	8	1071	c.862G>A	c.(862-864)Gta>Ata	p.V288I		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCAAGTCAACGTAGAAGTTAC	0.313																																					p.V288I		.											.	DSG2-563	0			c.G862A						.						90	89	89					18																	29104699		1853	4107	5960	SO:0001583	missense	1829	exon8			GTCAACGTAGAAG	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.862G>A	18.37:g.29104699G>A	ENSP00000261590:p.Val288Ile	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	173	137	NM_001943	0	0	0	0	0	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404338	0.42613	.	.	ENSG00000046604	ENST00000261590	T	0.52983	0.64	5.35	5.35	0.76521	Cadherin (3);Cadherin-like (1);	0.000000	0.53938	D	0.000052	T	0.61677	0.2366	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.59979	-0.7352	10	0.38643	T	0.18	.	9.7779	0.40630	0.1505:0.0:0.8495:0.0	.	288	Q14126	DSG2_HUMAN	I	288	ENSP00000261590:V288I	ENSP00000261590:V288I	V	+	1	0	DSG2	27358697	1.000000	0.71417	0.981000	0.43875	0.040000	0.13550	4.783000	0.62403	2.780000	0.95670	0.655000	0.94253	GTA	.		0.313	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		A	29104699	G	A	29104699	3	1	5	1	0	0	0	0	1	0	0	0	4791	1145	40	1	892	1	DSG2	18	29104699	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	26213148	29104699	48972549	522	983											
MCART2	147407	broad.mit.edu;bcgsc.ca	37	chr18	29340269	29340269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccacgccatgggttGcaaactctggagcacggaca	12	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:29340269G>A	ENST00000579441.2	-	1	355	c.356C>T	c.(355-357)gCa>gTa	p.A119V	SLC25A52_ENST00000269205.5_Missense_Mutation_p.A129V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	119					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCATGGGTTGCAAACTCTGG	0.498																																					p.A129V		.											.	.	0			c.C386T						.						136	129	131					18																	29340269		2203	4300	6503	SO:0001583	missense	147407	exon1			TGGGTTGCAAACT		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.356C>T	18.37:g.29340269G>A	ENSP00000462754:p.Ala119Val	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	197	8	NM_001034172	0	0	1	1	0		Missense_Mutation	SNP	ENST00000579441.2	37		.	.	.	.	.	.	.	.	.	.	G	7.842	0.722162	0.15372	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.77750	-1.12	1.03	0.0403	0.14208	Mitochondrial carrier domain (2);	0.465954	0.21328	N	0.076352	T	0.53334	0.1790	N	0.16743	0.435	0.34640	D	0.720526	B	0.02656	0.0	B	0.10450	0.005	T	0.35201	-0.9798	10	0.16420	T	0.52	.	3.8087	0.08788	0.4999:0.0:0.5001:0.0	.	119	Q3SY17	MCAR2_HUMAN	V	129;119	ENSP00000372612:A129V	ENSP00000372612:A129V	A	-	2	0	MCART2	27594267	0.753000	0.28349	0.062000	0.19696	0.577000	0.36160	4.160000	0.58164	0.003000	0.14656	0.505000	0.49811	GCA	.		0.498	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		A	29340269	G	A	29340269	3	1	5	1	0	0	0	0	1	0	0	0	9408	1319	46	3	541	3	MCART2	18	29340269	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	235570	29340269	48736979	523	984											
KIAA1632	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	43529494	43529494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaacaccagcggggcatcGaagaatatggtttagaagga	12	7	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:43529494G>A	ENST00000282041.5	-	5	1487	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	485					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCGGGGCATCGAAGAATATGG	0.418																																					p.R485X		.											.	EPG5-580	0			c.C1453T						.						86	84	85					18																	43529494		1867	4098	5965	SO:0001587	stop_gained	57724	exon5			GGCATCGAAGAAT	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1453C>T	18.37:g.43529494G>A	ENSP00000282041:p.Arg485*	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	61	24	NM_020964	0	0	0	0	0	A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	39	7.730626	0.98459	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.24	4.36	0.52297	.	0.739535	0.13249	N	0.402277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1884	15.5349	0.75996	0.0:0.0:0.8607:0.1393	.	.	.	.	X	485	.	ENSP00000282041:R485X	R	-	1	2	EPG5	41783492	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	4.732000	0.62029	1.317000	0.45149	0.650000	0.86243	CGA	.		0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43529494	G	A	43529494	4	1	5	1	0	0	0	0	0	1	0	0	8276	1066	37	1	6446	1	KIAA1632	18	43529494	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	14189225	43529494	34547754	524	985											
MBD1	4152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	47796100	47796100	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttccaggccatcctcgtgGgttccagctcgtgctcgtgg	14	13	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:47796100G>T	ENST00000591416.1	-	0	4020				MBD1_ENST00000349085.2_3'UTR|MBD1_ENST00000339998.6_3'UTR|MBD1_ENST00000353909.3_3'UTR|MBD1_ENST00000269468.5_3'UTR|MBD1_ENST00000587605.1_Silent_p.T518T|MBD1_ENST00000436910.1_3'UTR|MBD1_ENST00000347968.3_3'UTR|MBD1_ENST00000269471.5_Missense_Mutation_p.P554T|MBD1_ENST00000588937.1_Missense_Mutation_p.P554T|MBD1_ENST00000590208.1_Missense_Mutation_p.P623T|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000382948.5_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						catcctcgtgggttccagctc	0.577																																					p.P623T		.											.	MBD1-228	0			c.C1867A						.						165	111	129					18																	47796100		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4152	exon16			CTCGTGGGTTCCA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1771C>A	18.37:g.47796100G>T		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	144	51	NM_001204136	0	0	17	46	29	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	8.933	0.963905	0.18583	.	.	ENSG00000141644	ENST00000269471	D	0.95069	-3.6	4.06	1.32	0.21799	.	.	.	.	.	D	0.89458	0.6721	.	.	.	0.09310	N	1	B	0.26809	0.16	B	0.21917	0.037	T	0.81609	-0.0855	8	0.87932	D	0	.	5.8293	0.18570	0.3358:0.0:0.6642:0.0	.	554	Q9UIS9-2	.	T	554	ENSP00000269471:P554T	ENSP00000269471:P554T	P	-	1	0	MBD1	46050098	0.650000	0.27331	0.000000	0.03702	0.759000	0.43091	1.495000	0.35627	0.290000	0.22444	-0.142000	0.14014	CCA	.		0.577	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47796100	G	T	47796100	1	4	5	0	1	0	0	0	0	0	0	0	9380	1232	43	3		3	MBD1	18	47796100	3'UTR	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	4266606	47796100	30281148	525	986											
CNDP2	55748	bcgsc.ca	37	chr18	72178161	72178161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaggatgtggactaTgtctgcatttctgacaatta	8	6	3	1	rs2278159	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr18:72178161T>C	ENST00000324262.4	+	6	886	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CNDP2_ENST00000579847.1_Silent_p.Y190Y|CNDP2_ENST00000324301.8_Silent_p.Y106Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	190					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.Y190Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGTGGACTATGTCTGCATTT	0.507													T|||	1013	0.202276	0.0779	0.3026	5008	,	,		23053	0.2986		0.162	False		,,,				2504	0.2413				p.Y190Y		.											.	CNDP2-93	1	Substitution - coding silent(1)	stomach(1)	c.T570C						.	T	,	493,3913	230.4+/-244.6	34,425,1744	146	127	134		318,570	1.8	0.9	18	dbSNP_100	134	1634,6966	303.4+/-306.4	133,1368,2799	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	167,1793,4543	CC,CT,TT		19.0,11.1893,16.354	,	106/392,190/476	72178161	2127,10879	2203	4300	6503	SO:0001819	synonymous_variant	55748	exon6			GGACTATGTCTGC	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.570T>C	18.37:g.72178161T>C		Somatic	266	0		WXS	Illumina GAIIx	Phase_I	231	7	NM_018235	0	0	2	2	0	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	CCDS12006.1																																																																																			T|0.825;C|0.175		0.507	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		C	72178161	T	C	72178161	2	2	5	1	0	0	0	0	0	0	0	1	3601	1471	51	4		4	CNDP2	18	72178161	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	24382061	72178161	5899087	526	987											
SHC2	25759	hgsc.bcm.edu;broad.mit.edu	37	chr19	422360	422360	+	Frame_Shift_Del	DEL	G	G	-													ccacaggggcccggcgggtaGgggggctgggccactggtcc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:422360delG	ENST00000264554.6	-	11	1405	c.1406delC	c.(1405-1407)cctfs	p.P469fs		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	469	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCGGGTAGGGGGGCTGGG	0.687																																					p.P469fs		.											.	SHC2-392	0			c.1406delC						.						7	9	8					19																	422360		1946	4101	6047	SO:0001589	frameshift_variant	25759	exon11			CGGGTAGGGGGGC	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1406delC	19.37:g.422360delG	ENSP00000264554:p.Pro469fs	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	148	33	NM_012435	0	0	0	0	0	O60230|Q9NPL5|Q9UCX4	Frame_Shift_Del	DEL	ENST00000264554.6	37	CCDS45891.1																																																																																			.		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			-	422360	G	-	422360	7	5	5	1	0	1	0	1	0	0	0	0	14316	1000	35	0	350	0	SHC2	19	422360	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10		422360	58706623	527	988											
SHC2	25759	hgsc.bcm.edu	37	chr19	436677	436677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggcatgtggtggttggCgatgacctgtggcggcagga	20	7	0	1	rs370125945		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:436677C>T	ENST00000264554.6	-	5	726	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	243	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGTTGGCGATGACCTGT	0.716																																					p.A243T		.											.	SHC2-392	0			c.G727A						.	C	THR/ALA	0,4284		0,0,2142	32	40	37		727	3.6	0.9	19		37	2,8484		0,2,4241	no	missense	SHC2	NM_012435.2	58	0,2,6383	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	243/583	436677	2,12768	2142	4243	6385	SO:0001583	missense	25759	exon5			GGTTGGCGATGAC	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.727G>A	19.37:g.436677C>T	ENSP00000264554:p.Ala243Thr	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	156	39	NM_012435	0	0	0	0	0	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976436	0.74360	0.0	2.36E-4	ENSG00000129946	ENST00000264554	T	0.21191	2.02	4.63	3.59	0.41128	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.91300	3.195	0.53688	D	0.999979	D	0.67145	0.996	D	0.67900	0.954	T	0.62053	-0.6935	10	0.87932	D	0	-40.9382	12.0527	0.53515	0.0:0.9152:0.0:0.0848	.	243	P98077	SHC2_HUMAN	T	243	ENSP00000264554:A243T	ENSP00000264554:A243T	A	-	1	0	SHC2	387677	1.000000	0.71417	0.887000	0.34795	0.278000	0.26855	5.573000	0.67417	1.096000	0.41439	0.484000	0.47621	GCC	.		0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			T	436677	C	T	436677	3	4	5	1	0	0	0	0	1	0	0	0	14316	768	27	1	1053	1	SHC2	19	436677	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	14317	436677	58692306	528	989											
CFD	1675	hgsc.bcm.edu	37	chr19	863169	863169	+	Frame_Shift_Del	DEL	C	C	-													ggctcgcgcgtttgcggcaaCcgcaagaagcccgggatcta							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:863169delC	ENST00000327726.6	+	5	930	c.693delC	c.(691-693)aacfs	p.N231fs	CFD_ENST00000592860.1_Frame_Shift_Del_p.N238fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	231	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGCGGCAACCGCAAGAAGC	0.716																																					p.N231fs		.											.	CFD-514	0			c.693delC						.						14	14	14					19																	863169		2126	4177	6303	SO:0001589	frameshift_variant	1675	exon5			CGGCAACCGCAAG	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"Complement system"	2771	protein-coding gene	gene with protein product		134350	"D component of complement (adipsin)", "properdin factor D"	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.693delC	19.37:g.863169delC	ENSP00000332139:p.Asn231fs	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	27	14	NM_001928	0	0	0	0	0	B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Frame_Shift_Del	DEL	ENST00000327726.6	37	CCDS12046.1																																																																																			.		0.716	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		-	863169	C	-	863169	7	5	5	1	0	1	0	1	0	0	0	0	3288	506	18	0	711	0	CFD	19	863169	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	426492	863169	58265814	529	990											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1004687	1004687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggacggccagctggactTggaaccgggaggtgcctctg	18	11	1	0	rs12978900	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1004687T>C	ENST00000234389.3	+	3	1206	c.1187T>C	c.(1186-1188)tTg>tCg	p.L396S	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	396					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTGGACTTGGAACCGGGA	0.682													t|||	166	0.033147	0.0015	0.0173	5008	,	,		10955	0.0784		0.0338	False		,,,				2504	0.0399				p.L396S		.											.	GRIN3B-90	0			c.T1187C						.	T	SER/LEU	38,4326		0,38,2144	16	16	16		1187	-0.1	0	19	dbSNP_121	16	239,8321		2,235,4043	no	missense	GRIN3B	NM_138690.1	145	2,273,6187	CC,CT,TT		2.7921,0.8708,2.1433	benign	396/1044	1004687	277,12647	2182	4280	6462	SO:0001583	missense	116444	exon3			TGGACTTGGAACC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1187T>C	19.37:g.1004687T>C	ENSP00000234389:p.Leu396Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	5	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	70	0.03205128205128205	1	0.0020325203252032522	4	0.011049723756906077	39	0.06818181818181818	26	0.03430079155672823	T	2.347	-0.349767	0.05173	0.008708	0.027921	ENSG00000116032	ENST00000234389	T	0.12465	2.68	4.41	-0.073	0.13737	.	49.635500	0.01261	U	0.009180	T	0.00496	0.0016	N	0.02539	-0.55	0.09310	N	0.99999	B	0.18741	0.03	B	0.12837	0.008	T	0.32107	-0.9919	10	0.42905	T	0.14	.	8.5979	0.33727	0.0:0.271:0.0:0.729	rs12978900	396	O60391	NMD3B_HUMAN	S	396	ENSP00000234389:L396S	ENSP00000234389:L396S	L	+	2	0	GRIN3B	955687	0.231000	0.23751	0.001000	0.08648	0.017000	0.09413	0.570000	0.23653	-0.027000	0.13873	0.386000	0.25728	TTG	T|0.967;C|0.033		0.682	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1004687	T	C	1004687	3	2	5	1	0	0	0	0	1	0	0	0	6811	1821	63	4	1197	4	GRIN3B	19	1004687	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	141518	1004687	58124296	530	991											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1043419	1043419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaagcctctgatcctcGggaagctactctttgcacca	9	14	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1043419G>A	ENST00000263094.6	+	9	1108	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	ABCA7_ENST00000435683.2_Missense_Mutation_p.G155R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G293R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	293					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)		TCTGATCCTCGGGAAGCTACT	0.662																																					p.G293R		.											.	ABCA7-98	0			c.G877A						.						70	80	77					19																	1043419		2203	4300	6503	SO:0001583	missense	10347	exon9			ATCCTCGGGAAGC	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.877G>A	19.37:g.1043419G>A	ENSP00000263094:p.Gly293Arg	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	330	65	NM_019112	0	0	2	2	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762581	0.69763	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88046	-2.33;-2.33	4.25	4.25	0.50352	.	.	.	.	.	D	0.93086	0.7799	M	0.81112	2.525	0.44181	D	0.996993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94080	0.7343	9	0.87932	D	0	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	155;293	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	R	293	ENSP00000263094:G293R;ENSP00000414062:G293R	ENSP00000263094:G293R	G	+	1	0	ABCA7	994419	1.000000	0.71417	0.870000	0.34147	0.429000	0.31625	9.057000	0.93889	1.937000	0.56155	0.313000	0.20887	GGG	.		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1043419	G	A	1043419	3	1	5	1	0	0	0	0	1	0	0	0	37	1116	39	1	907	1	ABCA7	19	1043419	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	38732	1043419	58085564	531	992											
REEP6	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1496349	1496349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcatgctgtatcagcgCgtcgtgcgtccgctgttcct	11	14	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:1496349C>T	ENST00000233596.3	+	4	518	c.414C>T	c.(412-414)cgC>cgT	p.R138R		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	138					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)		TGTATCAGCGCGTCGTGCGTC	0.657																																					p.R138R		.											.	REEP6-90	0			c.C414T						.						79	71	74					19																	1496349		2203	4298	6501	SO:0001819	synonymous_variant	92840	exon4			TCAGCGCGTCGTG	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.414C>T	19.37:g.1496349C>T		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	160	33	NM_138393	1	0	143	181	37	B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187900	0.57909	.	.	ENSG00000115255	ENST00000395484	.	.	.	4.97	-2.05	0.07321	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43130	-0.9410	5	0.72032	D	0.01	-1.5493	4.0622	0.09844	0.2331:0.3466:0.3401:0.0801	.	.	.	.	C	206	.	ENSP00000378865:R206C	R	+	1	0	REEP6	1447349	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-2.057000	0.01395	0.111000	0.17947	0.552000	0.68991	CGT	.		0.657	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		T	1496349	C	T	1496349	2	4	5	1	0	0	0	0	0	0	0	1	13254	755	27	1		1	REEP6	19	1496349	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	452930	1496349	57632634	532	993											
FZR1	51343	hgsc.bcm.edu	37	chr19	3532525	3532525	+	Frame_Shift_Del	DEL	G	G	-													cagcacgggctgctggcctcGgggggcggcacagctgaccg					rs377303644		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:3532525delG	ENST00000395095.3	+	10	1119	c.1119delG	c.(1117-1119)tcgfs	p.S373fs	FZR1_ENST00000441788.2_Frame_Shift_Del_p.S373fs|FZR1_ENST00000313639.8_Frame_Shift_Del_p.S284fs	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	373					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCCTCGGGGGGCGGCA	0.647																																					p.S373fs		.											.	FZR1-227	0			c.1119delG						.						34	35	34					19																	3532525		2201	4299	6500	SO:0001589	frameshift_variant	51343	exon10			GGCCTCGGGGGGC	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1119delG	19.37:g.3532525delG	ENSP00000378529:p.Ser373fs	Somatic	28	1		WXS	Illumina GAIIx	Phase_I	259	125	NM_001136198	0	0	0	0	0	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Frame_Shift_Del	DEL	ENST00000395095.3	37	CCDS45916.1																																																																																			.		0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		-	3532525	G	-	3532525	7	5	5	1	0	1	0	1	0	0	0	0	6162	1103	39	0	1157	0	FZR1	19	3532525	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	2036176	3532525	55596458	533	994											
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	5206812	5206812	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatagtggtcaaagcttccGaggtactccagtgccgcctg	12	12	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:5206812G>A	ENST00000587303.1	-	37	5919	c.5820C>T	c.(5818-5820)ctC>ctT	p.L1940L	PTPRS_ENST00000588012.1_Silent_p.L1902L|PTPRS_ENST00000348075.2_Silent_p.L1902L|PTPRS_ENST00000262963.6_Silent_p.L1920L|PTPRS_ENST00000353284.2_Silent_p.L1493L|PTPRS_ENST00000592099.1_Silent_p.L1493L|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000372412.4_Silent_p.L1941L|PTPRS_ENST00000357368.4_Silent_p.L1940L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1940					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)	CAAAGCTTCCGAGGTACTCCA	0.632																																					p.L1940L		.											.	PTPRS-357	0			c.C5820T						.						151	128	136					19																	5206812		2203	4300	6503	SO:0001819	synonymous_variant	5802	exon38			GCTTCCGAGGTAC	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.5820C>T	19.37:g.5206812G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	221	51	NM_002850	0	0	77	103	26	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																			.		0.632	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5206812	G	A	5206812	2	1	5	1	0	0	0	0	0	0	0	1	12856	1045	37	1		1	PTPRS	19	5206812	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1674287	5206812	53922171	534	995											
VAV1	7409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6833562	6833562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttctatcagggctaccGctgccatcggtgccgggcat	11	14	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:6833562G>A	ENST00000602142.1	+	17	1716	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	VAV1_ENST00000596764.1_Missense_Mutation_p.R513H|VAV1_ENST00000539284.1_Missense_Mutation_p.R448H|VAV1_ENST00000599806.1_Missense_Mutation_p.R490H|VAV1_ENST00000304076.2_Missense_Mutation_p.R545H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	545					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGGCTACCGCTGCCATCGG	0.552																																					p.R545H		.											.	VAV1-1276	0			c.G1634A						.						109	107	107					19																	6833562		2203	4300	6503	SO:0001583	missense	7409	exon17			GCTACCGCTGCCA		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1634G>A	19.37:g.6833562G>A	ENSP00000472929:p.Arg545His	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	63	27	NM_005428	0	0	0	0	0	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737263	0.49045	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.93189	-3.18;-3.18	4.73	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.130678	0.49916	D	0.000123	D	0.94918	0.8357	M	0.68593	2.085	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.982;0.998	P;P;P;P	0.60949	0.853;0.881;0.596;0.878	D	0.93280	0.6659	10	0.20519	T	0.43	.	15.188	0.73020	0.0:0.0:1.0:0.0	.	448;545;490;545	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	545;448	ENSP00000302269:R545H;ENSP00000443242:R448H	ENSP00000302269:R545H	R	+	2	0	VAV1	6784562	1.000000	0.71417	0.987000	0.45799	0.619000	0.37552	3.019000	0.49635	2.199000	0.70637	0.491000	0.48974	CGC	.		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			A	6833562	G	A	6833562	3	1	5	1	0	0	0	0	1	0	0	0	17180	1087	38	1	1700	1	VAV1	19	6833562	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1626750	6833562	52295421	535	996											
INSR	3643	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	7267587	7267587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgcggacagaaccccGggtgatgttcatcaggttgt	13	10	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:7267587G>A	ENST00000302850.5	-	2	563	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	INSR_ENST00000341500.5_Missense_Mutation_p.R141W	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	141	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACAGAACCCCGGGTGATGTTC	0.512																																					p.R141W		.											.	INSR-1381	0			c.C421T						.						99	88	91					19																	7267587		2203	4300	6503	SO:0001583	missense	3643	exon2			AACCCCGGGTGAT	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.421C>T	19.37:g.7267587G>A	ENSP00000303830:p.Arg141Trp	Somatic	323	3		WXS	Illumina GAIIx	Phase_I	466	122	NM_000208	0	0	0	1	1	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371712	0.61624	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.80566	-1.39;-1.39	5.07	5.07	0.68467	EGF receptor, L domain (1);	0.000000	0.42172	U	0.000754	D	0.91620	0.7352	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	1.0;1.0;1.0	D	0.93070	0.6482	10	0.87932	D	0	.	11.116	0.48259	0.0:0.0:0.8155:0.1845	.	132;141;141	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	W	141	ENSP00000303830:R141W;ENSP00000342838:R141W	ENSP00000303830:R141W	R	-	1	2	INSR	7218587	0.996000	0.38824	1.000000	0.80357	0.794000	0.44872	2.098000	0.41757	2.349000	0.79799	0.544000	0.68410	CGG	.		0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7267587	G	A	7267587	3	1	5	1	0	0	0	0	1	0	0	0	7800	1115	39	1	3811	1	INSR	19	7267587	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	434025	7267587	51861396	536	997											
KIAA1543	57662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	7682925	7682925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccactcccaagaagggCggcggcacccccaaatagcc	9	19	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:7682925C>T	ENST00000160298.4	+	17	3833	c.3732C>T	c.(3730-3732)ggC>ggT	p.G1244G	CAMSAP3_ENST00000446248.2_Silent_p.G1271G	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1244					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAAGAAGGGCGGCGGCACCC	0.662																																					p.G1271G		.											.	.	0			c.C3813T						.						40	45	43					19																	7682925		1927	4120	6047	SO:0001819	synonymous_variant	57662	exon19			GAAGGGCGGCGGC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3732C>T	19.37:g.7682925C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	80	9	NM_001080429	0	0	112	120	8	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																			.		0.662	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		T	7682925	C	T	7682925	2	4	5	1	0	0	0	0	0	0	0	1	8270	755	27	1		1	KIAA1543	19	7682925	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	415338	7682925	51446058	537	998											
CD320	51293	hgsc.bcm.edu	37	chr19	8369919	8369921	+	In_Frame_Del	DEL	CTC	CTC	-													gggcgtggccactcactgcaCtcctcctcatcgctgccatc					rs546081310|rs532709437|rs150384171	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8369919_8369921delCTC	ENST00000301458.5	-	2	326_328	c.262_264delGAG	c.(262-264)gagdel	p.E88del	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	88	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.		Missing (in MMATC). {ECO:0000269|PubMed:20524213}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTCACTGCACTCCTCCTCATCG	0.67														35	0.00698882	8e-04	0.0115	5008	,	,		16965	0.0139		0.0089	False		,,,				2504	0.0031				p.88_88del		.											.	CD320-90	0			c.262_264del						.		,	21,4243		3,15,2114					,	4.9	1		dbSNP_134	43	114,8140		8,98,4021	no	coding,intron	CD320	NM_016579.3,NM_001165895.1	,	11,113,6135	A1A1,A1R,RR		1.3811,0.4925,1.0784	,	,		135,12383				SO:0001651	inframe_deletion	51293	exon2			ACTGCACTCCTCC	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.262_264delGAG	19.37:g.8369925_8369927delCTC	ENSP00000301458:p.Glu88del	Somatic	2	1		WXS	Illumina GAIIx	Phase_I	50	21	NM_016579	0	0	0	0	0	B2RDS5|D6W668|F5H6D3|Q53HF7	In_Frame_Del	DEL	ENST00000301458.5	37	CCDS12198.1																																																																																			.		0.67	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		-	8369921	CTC	-	8369919	7	5	5	1	0	1	0	1	0	0	0	0	3011	564	20	0	600	0	CD320	19	8369919	In_Frame_Del	DEL	CTC	TCGA-OR-A5J5-01A-11D-A29I-10	686994	8369919	50759064	538	999											
CD320	51293	hgsc.bcm.edu	37	chr19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgccacgctccaaccTgcgccatccaaccgccgctc	7	21	0	0	rs2232775	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000537716.2_Missense_Mutation_p.Q8R|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6	7	7		23,23	1.9	0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001165895	0	0	1	24	23	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		C	8373152	T	C	8373152	3	2	5	1	0	0	0	0	1	0	0	0	3011	1580	55	4	845	4	CD320	19	8373152	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	3233	8373152	50755831	539	1000											
ZNF414	84330	hgsc.bcm.edu	37	chr19	8576670	8576670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggttccagcagcgggaaCggcaggcccggcgctgatgc	17	12	0	1	rs7175	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4	6	5		705,705	-2	0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_032370	0	0	1	8	7	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		T	8576670	C	T	8576670	2	4	5	1	0	0	0	0	0	0	0	1	17939	523	19	1		1	ZNF414	19	8576670	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	203518	8576670	50552313	540	1001											
ACTL9	284382	hgsc.bcm.edu	37	chr19	8807994	8807994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagctctgcccggaagCgaccctcgaagccggtgaag	14	14	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:8807994C>T	ENST00000324436.3	-	1	1178	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	353						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCCCGGAAGCGACCCTCGAA	0.642																																					p.R353H		.											.	ACTL9-154	0			c.G1058A						.						22	25	24					19																	8807994		2197	4292	6489	SO:0001583	missense	284382	exon1			CGGAAGCGACCCT		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1058G>A	19.37:g.8807994C>T	ENSP00000316674:p.Arg353His	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	97	28	NM_178525	0	0	0	0	0	A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.076577	0.55753	.	.	ENSG00000181786	ENST00000324436	D	0.99353	-5.77	4.58	3.54	0.40534	.	0.159359	0.26734	N	0.022770	D	0.98795	0.9594	H	0.94771	3.58	0.41378	D	0.987531	P	0.37997	0.614	B	0.34346	0.18	D	0.99620	1.0983	10	0.87932	D	0	.	11.7818	0.52020	0.0:0.9128:0.0:0.0872	.	353	Q8TC94	ACTL9_HUMAN	H	353	ENSP00000316674:R353H	ENSP00000316674:R353H	R	-	2	0	ACTL9	8668994	1.000000	0.71417	0.769000	0.31535	0.034000	0.12701	2.904000	0.48719	1.287000	0.44583	0.457000	0.33378	CGC	.		0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		T	8807994	C	T	8807994	3	4	5	1	0	0	0	0	1	0	0	0	203	768	27	1	196	1	ACTL9	19	8807994	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	231324	8807994	50320989	541	1002											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9049154	9049154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtctgtgcaggatgcGtgaccaatgaaactgttgta	14	7	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:9049154G>A	ENST00000397910.4	-	5	32680	c.32477C>T	c.(32476-32478)aCg>aTg	p.T10826M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10828	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						TGCAGGATGCGTGACCAATGA	0.488																																					p.T10826M		.											.	MUC16-566	0			c.C32477T						.						179	161	167					19																	9049154		1964	4157	6121	SO:0001583	missense	94025	exon5			GGATGCGTGACCA	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.32477C>T	19.37:g.9049154G>A	ENSP00000381008:p.Thr10826Met	Somatic	280	0		WXS	Illumina GAIIx	Phase_I	418	94	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.579	0.107483	0.08780	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	3.2	1.03	0.20045	.	.	.	.	.	T	0.03608	0.0103	L	0.32530	0.975	.	.	.	D	0.61080	0.989	P	0.48454	0.578	T	0.39761	-0.9598	8	0.87932	D	0	.	5.6855	0.17801	0.2569:0.0:0.7431:0.0	.	10826	B5ME49	.	M	10826	ENSP00000381008:T10826M	ENSP00000381008:T10826M	T	-	2	0	MUC16	8910154	0.039000	0.19947	0.002000	0.10522	0.007000	0.05969	1.607000	0.36836	0.386000	0.24997	-0.383000	0.06682	ACG	.		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9049154	G	A	9049154	3	1	5	1	0	0	0	0	1	0	0	0	10011	1145	40	1	11366	1	MUC16	19	9049154	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	241160	9049154	50079829	542	1003											
COL5A3	50509	hgsc.bcm.edu	37	chr19	10077378	10077378	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggaagcgggactgggacGaagcgccggcgcctgcgcag	18	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10077378G>A	ENST00000264828.3	-	63	4588	c.4503C>T	c.(4501-4503)ttC>ttT	p.F1501F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1501					axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGACTGGGACGAAGCGCCGGC	0.706																																					p.F1501F		.											.	COL5A3-99	0			c.C4503T						.						4	4	4					19																	10077378		1975	3949	5924	SO:0001819	synonymous_variant	50509	exon63			TGGGACGAAGCGC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4503C>T	19.37:g.10077378G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	4	NM_015719	0	0	1	1	0	Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																			.		0.706	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10077378	G	A	10077378	2	1	5	1	0	0	0	0	0	0	0	1	3705	1049	37	1		1	COL5A3	19	10077378	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1028224	10077378	49051605	543	1004											
EIF3G	5032	broad.mit.edu	37	chr19	10227826	10227826	+	IGR	DEL	G	G	-													gtggtggccacattgggtccGggggggtcaaactctgagtt					rs141171264	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10227826delG	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Frame_Shift_Del_p.P113fs|EIF3G_ENST00000587168.1_5'Flank	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CATTGGGTCCGGGGGGGTCAA	0.602																																					p.P113fs		.											.	EIF3G-68	0			c.339delC						.						44	40	42					19																	10227826		2203	4300	6503	SO:0001628	intergenic_variant	8666	exon6			GGGTCCGGGGGGG	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10227826delG		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	159	10	NM_003755	0	0	0	0	0	B2R8X9|O43190|Q9BYU4|Q9H170	Frame_Shift_Del	DEL	ENST00000321826.4	37	CCDS12226.1																																																																																			.		0.602	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		-	10227826	G	-	10227826	6	5	5	0	1	1	0	1	0	0	0	0	5033	1103	39	0		0	EIF3G	19	10227826	IGR	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	150448	10227826	48901157	544	1005											
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10476463	10476463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgctgggagagtcggccCggctggaagtcccgcaggaa	16	11	1	1	rs377117351		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:10476463C>T	ENST00000525621.1	-	7	1222	c.741G>A	c.(739-741)ccG>ccA	p.P247P	TYK2_ENST00000524462.1_Silent_p.P62P|TYK2_ENST00000264818.6_Silent_p.P247P|TYK2_ENST00000529370.1_Silent_p.P247P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			AGAGTCGGCCCGGCTGGAAGT	0.672																																					p.P247P		.											.	TYK2-1009	0			c.G741A						.	C		1,4377		0,1,2188	15	14	14		741	-9.3	0	19		14	0,8532		0,0,4266	no	coding-synonymous	TYK2	NM_003331.4		0,1,6454	TT,TC,CC		0.0,0.0228,0.0077		247/1188	10476463	1,12909	2189	4266	6455	SO:0001819	synonymous_variant	7297	exon7			TCGGCCCGGCTGG		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.741G>A	19.37:g.10476463C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	262	146	NM_003331	0	0	10	16	6	Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.490982	0.04322	2.28E-4	0.0	ENSG00000105397	ENST00000525220	.	.	.	4.66	-9.32	0.00643	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.43994	D	0.996692	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-32.3278	1.2343	0.01949	0.2605:0.1238:0.3382:0.2776	.	.	.	.	Q	26	.	.	R	-	2	0	TYK2	10337463	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-8.468000	0.00020	-2.360000	0.00610	-0.254000	0.11334	CGG	.		0.672	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			T	10476463	C	T	10476463	2	4	5	1	0	0	0	0	0	0	0	1	16859	639	23	1		1	TYK2	19	10476463	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	248637	10476463	48652520	545	1006											
FBXW9	84261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12805414	12805414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgactcctcacctcatgGgtactatttcgcttagtgcc	7	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:12805414G>A	ENST00000380339.3	-	3	708	c.672C>T	c.(670-672)acC>acT	p.T224T	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Silent_p.T214T|FBXW9_ENST00000393261.3_Silent_p.T224T			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	224					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCACCTCATGGGTACTATTTC	0.542																																					p.T224T		.											.	FBXW9-227	0			c.C672T						.						56	64	62					19																	12805414		2100	4223	6323	SO:0001819	synonymous_variant	84261	exon3			CTCATGGGTACTA	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.672C>T	19.37:g.12805414G>A		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	254	126	NM_032301	0	0	0	0	0	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37																																																																																				.		0.542	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		A	12805414	G	A	12805414	2	1	5	1	0	0	0	0	0	0	0	1	5793	1219	43	3		3	FBXW9	19	12805414	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2328951	12805414	46323569	546	1007											
TNPO2	30000	broad.mit.edu;bcgsc.ca	37	chr19	12816346	12816346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaccagggtgacacagCgctggtagacgggctcacag	14	12	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:12816346C>T	ENST00000592287.1	-	16	1931	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	TNPO2_ENST00000356861.5_Missense_Mutation_p.R608H|TNPO2_ENST00000441499.1_Missense_Mutation_p.R608H|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000425528.1_Missense_Mutation_p.R608H|TNPO2_ENST00000450764.2_Missense_Mutation_p.R608H|TNPO2_ENST00000588216.1_Missense_Mutation_p.R608H	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	608				R -> C (in Ref. 2; AAB71349). {ECO:0000305}.	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						GGTGACACAGCGCTGGTAGAC	0.632																																					p.R608H		.											.	TNPO2-227	0			c.G1823A						.						25	29	27					19																	12816346		2115	4214	6329	SO:0001583	missense	30000	exon16			ACACAGCGCTGGT	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.1823G>A	19.37:g.12816346C>T	ENSP00000468434:p.Arg608His	Somatic	283	1		WXS	Illumina GAIIx	Phase_I	532	12	NM_013433	0	0	23	25	2	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918518	0.52546	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.82923	2.615	0.80722	D	1	P;B	0.47302	0.893;0.411	B;B	0.35813	0.211;0.024	T	0.57219	-0.7849	10	0.59425	D	0.04	-17.4574	17.8663	0.88796	0.0:1.0:0.0:0.0	.	772;608	Q4LE60;O14787	.;TNPO2_HUMAN	H	772;608;608;608;608;608;608	ENSP00000407182:R608H;ENSP00000389648:R608H;ENSP00000397379:R608H;ENSP00000349321:R608H	ENSP00000349321:R608H	R	-	2	0	TNPO2	12677346	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.434000	0.80377	2.520000	0.84964	0.467000	0.42956	CGC	.		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12816346	C	T	12816346	3	4	5	1	0	0	0	0	1	0	0	0	16383	768	27	1	906	1	TNPO2	19	12816346	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	10932	12816346	46312637	547	1008											
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13356010	13356010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaccccaaactcagtcaCgaggatatcggtgatgctgc	9	12	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:13356010C>T	ENST00000360228.5	-	31	4935	c.4936G>A	c.(4936-4938)Gtg>Atg	p.V1646M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1647M|CACNA1A_ENST00000574822.1_5'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	1647					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)	AACTCAGTCACGAGGATATCG	0.582																																					p.V1647M		.											.	CACNA1A-67	0			c.G4939A						.						96	99	98					19																	13356010		2013	4164	6177	SO:0001583	missense	773	exon31			CAGTCACGAGGAT	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.4936G>A	19.37:g.13356010C>T	ENSP00000353362:p.Val1646Met	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	176	83	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476763	0.44044	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98550	-4.99	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000008	D	0.98466	0.9489	L	0.52905	1.665	0.58432	D	0.999999	D;P;D;D	0.89917	0.995;0.896;1.0;0.988	P;P;D;P	0.91635	0.871;0.454;0.999;0.871	D	0.99886	1.1123	10	0.87932	D	0	.	16.3534	0.83225	0.0:1.0:0.0:0.0	.	1647;1650;1646;1647	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1646;1650;1647;1647;263	ENSP00000353362:V1646M	ENSP00000317661:V1647M	V	-	1	0	CACNA1A	13217010	0.961000	0.32948	0.735000	0.30896	0.975000	0.68041	2.246000	0.43142	2.140000	0.66376	0.462000	0.41574	GTG	.		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13356010	C	T	13356010	3	4	5	1	0	0	0	0	1	0	0	0	2545	536	19	1	2754	1	CACNA1A	19	13356010	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	539664	13356010	45772973	548	1009											
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13370425	13370425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagagggtcagcagagcCcacagcacattgtcgtaatg	13	9	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:13370425C>A	ENST00000360228.5	-	27	4340	c.4341G>T	c.(4339-4341)tgG>tgT	p.W1447C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W1448C	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	1448					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)	TCAGCAGAGCCCACAGCACAT	0.562																																					p.W1448C		.											.	CACNA1A-67	0			c.G4344T						.						56	59	58					19																	13370425		1989	4153	6142	SO:0001583	missense	773	exon27			CAGAGCCCACAGC	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.4341G>T	19.37:g.13370425C>A	ENSP00000353362:p.Trp1447Cys	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	221	115	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173320	0.57584	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98617	-5.03	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.987;0.999	D	0.99414	1.0931	10	0.87932	D	0	.	16.8346	0.85954	0.0:1.0:0.0:0.0	.	1448;1451;1447	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	1447;1451;1448;1448;64	ENSP00000353362:W1447C	ENSP00000317661:W1448C	W	-	3	0	CACNA1A	13231425	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.818000	0.86416	2.265000	0.75225	0.561000	0.74099	TGG	.		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13370425	C	A	13370425	3	1	5	1	0	0	0	0	1	0	0	0	2545	624	22	3	3365	3	CACNA1A	19	13370425	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	14415	13370425	45758558	549	1010											
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15276714	15276714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttggctgcatcagcacGggcataacgggcagccaggt	14	13	1	0	rs376590511		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15276714G>A	ENST00000263388.2	-	30	5626	c.5551C>T	c.(5551-5553)Cgt>Tgt	p.R1851C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					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)			GCATCAGCACGGGCATAACGG	0.637																																					p.R1851C		.											.	NOTCH3-855	0			c.C5551T						.	G	CYS/ARG	0,4406		0,0,2203	60	47	52		5551	1.9	1	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1851/2322	15276714	1,13005	2203	4300	6503	SO:0001583	missense	4854	exon30			CAGCACGGGCATA	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.5551C>T	19.37:g.15276714G>A	ENSP00000263388:p.Arg1851Cys	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	239	32	NM_000435	0	0	2	2	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879731	0.72294	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.65732	-0.17	5.36	1.93	0.25924	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.69287	0.3094	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70737	-0.4790	10	0.87932	D	0	.	13.745	0.62870	0.0:0.0:0.4797:0.5203	.	1851	Q9UM47	NOTC3_HUMAN	C	1851	ENSP00000263388:R1851C	ENSP00000263388:R1851C	R	-	1	0	NOTCH3	15137714	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	3.193000	0.50997	0.347000	0.23924	0.655000	0.94253	CGT	.		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15276714	G	A	15276714	3	1	5	1	0	0	0	0	1	0	0	0	10589	1116	39	1	1430	1	NOTCH3	19	15276714	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1906289	15276714	43852269	550	1011											
NOTCH3	4854	ucsc.edu	37	chr19	15292437	15292437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaagcctccgtagccTggcgggcaggtgcaggtgaa	17	10	0	1	rs1043997	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15292437T>C	ENST00000263388.2	-	17	2817	c.2742A>G	c.(2740-2742)ccA>ccG	p.P914P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	914	EGF-like 23; 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)			CTCCGTAGCCTGGCGGGCAGG	0.697													C|||	3701	0.739018	0.5582	0.7104	5008	,	,		16714	0.8284		0.841	False		,,,				2504	0.8067				p.P914P		.											.	NOTCH3-855	0			c.A2742G						.	C		2660,1520		893,874,323	13	10	11		2742	-10.9	0	19	dbSNP_86	11	7044,1052		3078,888,82	no	coding-synonymous	NOTCH3	NM_000435.2		3971,1762,405	CC,CT,TT		12.9941,36.3636,20.9514		914/2322	15292437	9704,2572	2090	4048	6138	SO:0001819	synonymous_variant	4854	exon17			GTAGCCTGGCGGG	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.2742A>G	19.37:g.15292437T>C		Somatic	18	4		WXS	Illumina GAIIx	Phase_I	419	174	NM_000435	0	0	1	1	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			T|0.238;C|0.762		0.697	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15292437	T	C	15292437	2	2	5	1	0	0	0	0	0	0	0	1	10589	1567	55	4		4	NOTCH3	19	15292437	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	15723	15292437	43836546	551	1012											
OR10H1	26539	bcgsc.ca	37	chr19	15918802	15918802	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggaagacagagaagcCgacgaggatgaattgggtca	18	5	1	3	rs4808383	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:15918802C>G	ENST00000334920.2	-	1	134	c.46G>C	c.(46-48)Ggc>Cgc	p.G16R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	16			G -> R (in dbSNP:rs4808383).			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						ACAGAGAAGCCGACGAGGATG	0.557													.|||	766	0.152955	0.1331	0.1124	5008	,	,		20065	0.12		0.1779	False		,,,				2504	0.2168				p.G16R		.											.	OR10H1-68	0			c.G46C						.	C	ARG/GLY	612,3794	266.2+/-267.1	52,508,1643	153	145	148		46	2.3	0.3	19	dbSNP_111	148	1695,6905	311.7+/-310.5	175,1345,2780	yes	missense	OR10H1	NM_013940.2	125	227,1853,4423	GG,GC,CC		19.7093,13.8901,17.738	probably-damaging	16/319	15918802	2307,10699	2203	4300	6503	SO:0001583	missense	26539	exon1			AGAAGCCGACGAG	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.46G>C	19.37:g.15918802C>G	ENSP00000335596:p.Gly16Arg	Somatic	177	1		WXS	Illumina GAIIx	Phase_I	322	8	NM_013940	0	0	0	0	0	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	318	0.14560439560439561	66	0.13414634146341464	36	0.09944751381215469	77	0.1346153846153846	139	0.18337730870712401	c	13.00	2.105991	0.37145	0.138901	0.197093	ENSG00000186723	ENST00000334920	T	0.00659	5.94	4.47	2.28	0.28536	.	0.000000	0.50627	D	0.000103	T	0.00012	0.0000	M	0.93939	3.475	0.30892	P	0.730259	D	0.89917	1.0	D	0.70716	0.97	T	0.15150	-1.0447	9	0.72032	D	0.01	.	6.9577	0.24580	0.1726:0.7323:0.0:0.0952	rs4808383;rs52830115;rs4808383	16	Q9Y4A9	O10H1_HUMAN	R	16	ENSP00000335596:G16R	ENSP00000335596:G16R	G	-	1	0	OR10H1	15779802	0.285000	0.24296	0.320000	0.25306	0.003000	0.03518	1.939000	0.40213	0.323000	0.23307	0.643000	0.83706	GGC	C|0.832;G|0.168		0.557	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			G	15918802	C	G	15918802	3	3	5	1	0	0	0	0	1	0	0	0	10944	652	23	2	914	2	OR10H1	19	15918802	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	626365	15918802	43210181	552	1013											
C19orf44	84167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16611814	16611814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagagaaccctgtgctcGggagtggacccaggcttgcc	14	11	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:16611814G>A	ENST00000221671.3	+	2	367	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G71R	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	71										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCTGTGCTCGGGAGTGGACC	0.507																																					p.G71R		.											.	C19orf44-90	0			c.G211A						.						116	130	125					19																	16611814		2203	4300	6503	SO:0001583	missense	84167	exon2			GTGCTCGGGAGTG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.211G>A	19.37:g.16611814G>A	ENSP00000221671:p.Gly71Arg	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	109	59	NM_032207	0	0	0	0	0	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776293	0.49786	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.78	2.55	0.30701	.	0.550372	0.16965	N	0.192331	T	0.35278	0.0926	L	0.56769	1.78	0.09310	N	1	P;D	0.61080	0.941;0.989	B;P	0.47528	0.288;0.549	T	0.13415	-1.0510	9	0.29301	T	0.29	-18.4854	6.5443	0.22397	0.0981:0.1816:0.7203:0.0	.	71;71	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	R	71	.	ENSP00000221671:G71R	G	+	1	0	C19orf44	16472814	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.281000	0.18810	0.575000	0.29434	0.655000	0.94253	GGG	.		0.507	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		A	16611814	G	A	16611814	3	1	5	1	0	0	0	0	1	0	0	0	1934	1116	39	1	213	1	C19orf44	19	16611814	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	693012	16611814	42517169	553	1014											
SIN3B	23309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16986968	16986968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgtcctcccgctgcGtccgcgctgctagggagacc	13	16	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:16986968G>A	ENST00000248054.5	+	15	2716	c.2695G>A	c.(2695-2697)Gtc>Atc	p.V899I	SIN3B_ENST00000379803.1_Missense_Mutation_p.V931I|SIN3B_ENST00000595541.1_Missense_Mutation_p.V489I					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCGCTGCGTCCGCGCTGC	0.642																																					p.V931I		.											.	SIN3B-228	0			c.G2791A						.						39	33	35					19																	16986968		2201	4300	6501	SO:0001583	missense	23309	exon16			CGCTGCGTCCGCG	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2695G>A	19.37:g.16986968G>A	ENSP00000248054:p.Val899Ile	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	265	137	NM_015260	0	0	21	45	24		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298762	0.60195	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.44083	0.93;0.93	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.51422	1.61	0.43412	D	0.995554	D;P;D	0.76494	0.999;0.939;0.989	D;P;P	0.75020	0.985;0.474;0.707	T	0.56123	-0.8031	10	0.33940	T	0.23	-43.7358	17.0525	0.86523	0.0:0.0:1.0:0.0	.	489;899;931	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	I	931;899	ENSP00000369131:V931I;ENSP00000248054:V899I	ENSP00000248054:V899I	V	+	1	0	SIN3B	16847968	1.000000	0.71417	0.881000	0.34555	0.778000	0.44026	5.280000	0.65603	2.022000	0.59522	0.561000	0.74099	GTC	.		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16986968	G	A	16986968	3	1	5	1	0	0	0	0	1	0	0	0	14371	1145	40	1	2853	1	SIN3B	19	16986968	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	375154	16986968	42142015	554	1015											
MYO9B	4650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17283599	17283599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacatggactacatgcGgccagacatcgtggccctgc	12	12	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17283599G>A	ENST00000594824.1	+	13	2114	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.R656Q			Q13459	MYO9B_HUMAN	myosin IXB	656	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACTACATGCGGCCAGACATC	0.667																																					p.R656Q		.											.	MYO9B-67	0			c.G1967A						.						68	77	74					19																	17283599		2114	4224	6338	SO:0001583	missense	4650	exon13			ACATGCGGCCAGA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1967G>A	19.37:g.17283599G>A	ENSP00000471367:p.Arg656Gln	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	144	29	NM_001130065	0	0	3	3	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.422492	0.96111	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.50627	D	0.000115	D	0.91317	0.7262	L	0.52364	1.645	0.46396	D	0.99902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92021	0.5626	10	0.59425	D	0.04	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	656;656;662	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	656	ENSP00000380444:R656Q	ENSP00000380444:R656Q	R	+	2	0	MYO9B	17144599	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.700000	0.98707	2.218000	0.71995	0.655000	0.94253	CGG	.		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17283599	G	A	17283599	3	1	5	1	0	0	0	0	1	0	0	0	10123	1116	39	1	2013	1	MYO9B	19	17283599	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	296631	17283599	41845384	555	1016											
ANO8	57719	hgsc.bcm.edu	37	chr19	17435647	17435647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggccgggcctgcccGcccgccccgttggacccagg	13	20	1	0	rs150818557	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17435647G>A	ENST00000159087.4	-	17	3368	c.3210C>T	c.(3208-3210)ggC>ggT	p.G1070G		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070					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						GGGCCTGCCCGCCCGCCCCGT	0.711													G|||	5	0.000998403	8e-04	0.0029	5008	,	,		12379	0		0.002	False		,,,				2504	0				p.G1070G		.											.	ANO8-93	0			c.C3210T						.	G		0,4400		0,0,2200	25	33	30		3210	-0.5	0.2	19	dbSNP_134	30	24,8552		1,22,4265	no	coding-synonymous	ANO8	NM_020959.2		1,22,6465	AA,AG,GG		0.2799,0.0,0.185		1070/1233	17435647	24,12952	2200	4288	6488	SO:0001819	synonymous_variant	57719	exon17			CTGCCCGCCCGCC	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.3210C>T	19.37:g.17435647G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	58	35	NM_020959	0	0	17	28	11	A6NIJ0	Silent	SNP	ENST00000159087.4	37	CCDS32949.1																																																																																			G|0.998;A|0.002		0.711	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17435647	G	A	17435647	2	1	5	1	0	0	0	0	0	0	0	1	703	1074	38	1		1	ANO8	19	17435647	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	152048	17435647	41693336	556	1017											
ANO8	57719	broad.mit.edu;bcgsc.ca	37	chr19	17441307	17441307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatggggctgatacgtcGcacgccctgatggtgggcaa	16	10	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17441307G>A	ENST00000159087.4	-	9	1158	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	334					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						CTGATACGTCGCACGCCCTGA	0.642																																					p.R334X		.											.	ANO8-93	0			c.C1000T						.						22	22	22					19																	17441307		2181	4278	6459	SO:0001587	stop_gained	57719	exon9			TACGTCGCACGCC	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.1000C>T	19.37:g.17441307G>A	ENSP00000159087:p.Arg334*	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	186	9	NM_020959	0	0	3	3	0	A6NIJ0	Nonsense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	37	6.514452	0.97629	.	.	ENSG00000074855	ENST00000159087	.	.	.	4.99	2.61	0.31194	.	0.453718	0.21113	N	0.079947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	10.1469	0.42769	0.0:0.0:0.5006:0.4994	.	.	.	.	X	334	.	ENSP00000159087:R334X	R	-	1	2	ANO8	17302307	1.000000	0.71417	0.165000	0.22776	0.060000	0.15804	4.211000	0.58507	1.023000	0.39654	0.491000	0.48974	CGA	.		0.642	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17441307	G	A	17441307	4	1	5	1	0	0	0	0	0	1	0	0	703	1095	38	1	2738	1	ANO8	19	17441307	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5660	17441307	41687676	557	1018											
GLT25D1	79709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17679361	17679361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacatccctatccgcaagcGagaccgccggggctgctttg	11	15	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:17679361G>A	ENST00000252599.4	+	5	788	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	223					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ATCCGCAAGCGAGACCGCCGG	0.617																																					p.R223Q		.											.	.	0			c.G668A						.						124	98	107					19																	17679361		2203	4300	6503	SO:0001583	missense	79709	exon5			GCAAGCGAGACCG	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.668G>A	19.37:g.17679361G>A	ENSP00000252599:p.Arg223Gln	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	240	50	NM_024656	0	0	0	1	1	Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065640	0.55539	.	.	ENSG00000130309	ENST00000252599	T	0.24538	1.85	5.05	5.05	0.67936	.	0.285571	0.34178	N	0.004186	T	0.24967	0.0606	L	0.43646	1.37	0.51233	D	0.99991	B	0.21071	0.051	B	0.19391	0.025	T	0.02736	-1.1117	10	0.37606	T	0.19	-22.0093	15.8686	0.79091	0.0:0.0:1.0:0.0	.	223	Q8NBJ5	GT251_HUMAN	Q	223	ENSP00000252599:R223Q	ENSP00000252599:R223Q	R	+	2	0	GLT25D1	17540361	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.934000	0.70138	2.356000	0.79943	0.491000	0.48974	CGA	.		0.617	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		A	17679361	G	A	17679361	3	1	5	1	0	0	0	0	1	0	0	0	6492	1058	37	1	686	1	GLT25D1	19	17679361	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	238054	17679361	41449622	558	1019											
PIK3R2	5296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	18279340	18279340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgagtggctggggattAaaaatgagactgaggagtga	15	4	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18279340A>G	ENST00000593731.1	+	14	2352	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	PIK3R2_ENST00000222254.8_Missense_Mutation_p.K598E			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	598					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	gctggggattaaaaatgagac	0.567											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K598E		.											.	PIK3R2-1311	0			c.A1792G						.						34	36	35					19																	18279340		2203	4300	6503	SO:0001583	missense	5296	exon14			GGGATTAAAAATG		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1792A>G	19.37:g.18279340A>G	ENSP00000471914:p.Lys598Glu	Somatic	55	0	724	WXS	Illumina GAIIx	Phase_I	62	31	NM_005027	0	1	27	48	20	Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857585	0.32791	.	.	ENSG00000105647	ENST00000222254	T	0.45276	0.9	3.5	3.5	0.40072	.	0.121667	0.53938	D	0.000047	T	0.27169	0.0666	L	0.34521	1.04	0.54753	D	0.999986	B	0.20052	0.041	B	0.09377	0.004	T	0.05733	-1.0867	10	0.10636	T	0.68	-15.1768	10.4528	0.44533	1.0:0.0:0.0:0.0	.	598	O00459	P85B_HUMAN	E	598	ENSP00000222254:K598E	ENSP00000222254:K598E	K	+	1	0	PIK3R2	18140340	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	5.878000	0.69682	1.558000	0.49541	0.260000	0.18958	AAA	.		0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		G	18279340	A	G	18279340	3	3	5	1	0	0	0	0	1	0	0	0	11958	363	13	4	1842	4	PIK3R2	19	18279340	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	599979	18279340	40849643	559	1020											
ISYNA1	51477	broad.mit.edu	37	chr19	18546481	18546481	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtacggcacatacttgatGaccacctggagtgcagcagg	12	11	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18546481G>A	ENST00000338128.8	-	9	1363	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	ISYNA1_ENST00000545187.1_Silent_p.V232V|ISYNA1_ENST00000317018.6_Silent_p.V180V|ISYNA1_ENST00000578963.1_Silent_p.V254V|ISYNA1_ENST00000457269.4_Silent_p.V328V	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	382					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						CATACTTGATGACCACCTGGA	0.667																																					p.V382V		.											.	ISYNA1-92	0			c.C1146T						.						56	44	48					19																	18546481		2201	4299	6500	SO:0001819	synonymous_variant	51477	exon9			CTTGATGACCACC		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.1146C>T	19.37:g.18546481G>A		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	73	3	NM_016368	0	0	12	12	0	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			.		0.667	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		A	18546481	G	A	18546481	2	1	5	1	0	0	0	0	0	0	0	1	7894	1277	45	3		3	ISYNA1	19	18546481	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	267141	18546481	40582502	560	1021											
FKBP8	23770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	18650417	18650417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggctcctcctgcacccGtgtgccattctccagcgacg	9	19	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:18650417G>A	ENST00000596558.2	-	3	515	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	FKBP8_ENST00000222308.4_Missense_Mutation_p.R136W|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Missense_Mutation_p.R136W|FKBP8_ENST00000608443.1_Missense_Mutation_p.R136W|FKBP8_ENST00000453489.2_Missense_Mutation_p.R165W			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	136	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				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						TCCTGCACCCGTGTGCCATTC	0.677																																					p.R136W		.											.	FKBP8-227	0			c.C406T						.						111	115	114					19																	18650417		2203	4300	6503	SO:0001583	missense	23770	exon3			GCACCCGTGTGCC	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.406C>T	19.37:g.18650417G>A	ENSP00000472302:p.Arg136Trp	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	173	80	NM_012181	0	0	85	144	59	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		.	.	.	.	.	.	.	.	.	.	G	14.12	2.440096	0.43326	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55234	0.53;0.53	3.5	1.24	0.21308	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.372544	0.24226	N	0.040387	T	0.52208	0.1720	L	0.46819	1.47	0.45427	D	0.998408	D;D;D	0.69078	0.989;0.997;0.995	P;P;P	0.56916	0.809;0.741;0.784	T	0.44544	-0.9321	10	0.37606	T	0.19	-18.632	5.6691	0.17713	0.0:0.2963:0.3467:0.357	.	165;136;136	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	W	136;165	ENSP00000222308:R136W;ENSP00000388891:R165W	ENSP00000222308:R136W	R	-	1	2	FKBP8	18511417	0.008000	0.16893	0.489000	0.27452	0.346000	0.29079	0.911000	0.28584	0.134000	0.18681	-0.314000	0.08810	CGG	.		0.677	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		A	18650417	G	A	18650417	3	1	5	1	0	0	0	0	1	0	0	0	5936	1144	40	1	863	1	FKBP8	19	18650417	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	103936	18650417	40478566	561	1022											
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19360612	19360612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcggcgacaccaccaccaCcaccaacaccaccaccagca	5	21	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:19360612C>A	ENST00000252575.6	+	15	3957	c.3858C>A	c.(3856-3858)caC>caA	p.H1286Q	NCAN_ENST00000538881.1_Missense_Mutation_p.H737Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1286					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	accaccaccaccaccaacacc	0.577																																					p.H1286Q		.											.	NCAN-94	0			c.C3858A						.						393	300	332					19																	19360612		2203	4300	6503	SO:0001583	missense	1463	exon15			CCACCACCACCAA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3858C>A	19.37:g.19360612C>A	ENSP00000252575:p.His1286Gln	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	365	102	NM_004386	0	0	0	0	0	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329824	0.60743	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84800	-1.73;-1.9	5.28	3.16	0.36331	.	.	.	.	.	T	0.77198	0.4095	N	0.14661	0.345	0.25626	N	0.986351	D	0.54207	0.965	P	0.51016	0.656	T	0.65138	-0.6241	9	0.26408	T	0.33	.	7.2557	0.26175	0.0:0.8042:0.0:0.1958	.	1286	O14594	NCAN_HUMAN	Q	1300;1286;737	ENSP00000252575:H1286Q;ENSP00000442202:H737Q	ENSP00000252575:H1286Q	H	+	3	2	NCAN	19221612	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	1.870000	0.39529	1.237000	0.43756	0.549000	0.68633	CAC	.		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19360612	C	A	19360612	3	1	5	1	0	0	0	0	1	0	0	0	10243	506	18	3	3912	3	NCAN	19	19360612	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	710195	19360612	39768371	562	1023											
ZNF429	353088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	21720662	21720662	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtggcaaagcttttAatcggtcctcaagacttact	8	8	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:21720662A>C	ENST00000358491.4	+	4	2015	c.1807A>C	c.(1807-1809)Aat>Cat	p.N603H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAAGCTTTTAATCGGTCCTC	0.373																																					p.N603H		.											.	ZNF429-516	0			c.A1807C						.						56	61	59					19																	21720662		2090	4257	6347	SO:0001583	missense	353088	exon4			GCTTTTAATCGGT	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1807A>C	19.37:g.21720662A>C	ENSP00000351280:p.Asn603His	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	49	13	NM_001001415	0	0	1	2	1	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.514	-0.865183	0.02590	.	.	ENSG00000197013	ENST00000358491	T	0.07800	3.16	1.09	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.05012	-0.13	0.09310	N	1	P	0.48162	0.906	P	0.52309	0.695	T	0.28586	-1.0039	9	0.49607	T	0.09	.	4.4961	0.11837	0.338:0.4826:0.1793:0.0	.	603	Q86V71	ZN429_HUMAN	H	603	ENSP00000351280:N603H	ENSP00000351280:N603H	N	+	1	0	ZNF429	21512502	0.003000	0.15002	0.003000	0.11579	0.046000	0.14306	0.389000	0.20751	-0.767000	0.04633	-1.020000	0.02445	AAT	.		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		C	21720662	A	C	21720662	3	2	5	1	0	0	0	0	1	0	0	0	17950	362	13	5	1821	5	ZNF429	19	21720662	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	2360050	21720662	37408321	563	1024											
GPATCH1	55094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	33616095	33616095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagaaagagcacaggcGgaagaaagagaaggtgagag	17	5	0	5	rs557686705	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:33616095G>A	ENST00000170564.2	+	18	2920	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	869					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)					GAGCACAGGCGGAAGAAAGAG	0.493													G|||	4	0.000798722	0	0	5008	,	,		16736	0		0	False		,,,				2504	0.0041				p.R869Q	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.G2606A						.						93	80	85					19																	33616095		2202	4298	6500	SO:0001583	missense	55094	exon18			ACAGGCGGAAGAA	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.2606G>A	19.37:g.33616095G>A	ENSP00000170564:p.Arg869Gln	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	183	39	NM_018025	0	0	0	0	0	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654353	0.29425	.	.	ENSG00000076650	ENST00000170564	T	0.11277	2.79	4.32	3.26	0.37387	.	0.543411	0.16655	N	0.205037	T	0.11665	0.0284	L	0.44542	1.39	0.28075	N	0.932429	D;P	0.64830	0.994;0.804	P;B	0.48400	0.576;0.199	T	0.07790	-1.0754	10	0.33141	T	0.24	-11.411	6.5306	0.22324	0.2656:0.0:0.7344:0.0	.	869;869	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	Q	869	ENSP00000170564:R869Q	ENSP00000170564:R869Q	R	+	2	0	GPATCH1	38307935	0.365000	0.25006	0.991000	0.47740	0.318000	0.28184	1.852000	0.39348	2.129000	0.65627	0.585000	0.79938	CGG	.		0.493	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		A	33616095	G	A	33616095	3	1	5	1	0	0	0	0	1	0	0	0	6616	1116	39	1	2676	1	GPATCH1	19	33616095	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	11895433	33616095	25512888	564	1025											
MLL4	9757	broad.mit.edu;bcgsc.ca	37	chr19	36217156	36217156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgttcagcctgtgtgcGctgtaagagctgtggggcaa	15	8	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36217156G>A	ENST00000222270.7	+	14	3905	c.3905G>A	c.(3904-3906)cGc>cAc	p.R1302H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1302H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1302					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)										GCCTGTGTGCGCTGTAAGAGC	0.582																																					p.R1302H		.											.	MLL4-697	0			c.G3905A						.						60	63	62					19																	36217156		1968	4184	6152	SO:0001583	missense	8085	exon14			GTGTGCGCTGTAA	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.3905G>A	19.37:g.36217156G>A	ENSP00000222270:p.Arg1302His	Somatic	303	1		WXS	Illumina GAIIx	Phase_I	499	18	NM_014727	0	0	14	14	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836235	0.71373	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	5.38	5.38	0.77491	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42294	D	0.000724	D	0.91593	0.7344	M	0.65498	2.005	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.91232	0.5015	10	0.52906	T	0.07	.	18.0736	0.89421	0.0:0.0:1.0:0.0	.	1302	Q9UMN6	MLL4_HUMAN	H	1302	ENSP00000222270:R1302H;ENSP00000398837:R1302H	ENSP00000222270:R1302H	R	+	2	0	AD000671.1	40908996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.793000	0.96121	0.655000	0.94253	CGC	.		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36217156	G	A	36217156	3	1	5	1	0	0	0	0	1	0	0	0	9661	1087	38	1	3959	1	MLL4	19	36217156	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2601061	36217156	22911827	565	1026											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36222925	36222925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggccagattcaggcagcGcccctcctccagccccccgt	10	20	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36222925G>A	ENST00000222270.7	+	27	5554	c.5554G>A	c.(5554-5556)Gcc>Acc	p.A1852T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.A1852T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1852					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)										TTCAGGCAGCGCCCCTCCTCC	0.642																																					p.A1852T		.											.	MLL4-697	0			c.G5554A						.						24	28	26					19																	36222925		1935	4132	6067	SO:0001583	missense	8085	exon27			GGCAGCGCCCCTC	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.5554G>A	19.37:g.36222925G>A	ENSP00000222270:p.Ala1852Thr	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	73	18	NM_014727	0	0	18	30	12	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428410	0.25726	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82984	-1.67;-1.67	5.33	5.33	0.75918	.	0.330258	0.21799	N	0.068942	T	0.69869	0.3159	L	0.34521	1.04	0.24378	N	0.994805	P	0.35551	0.509	B	0.26969	0.075	T	0.58934	-0.7548	10	0.09590	T	0.72	.	13.7658	0.62995	0.0:0.0:0.8457:0.1543	.	1852	Q9UMN6	MLL4_HUMAN	T	1852	ENSP00000222270:A1852T;ENSP00000398837:A1852T	ENSP00000222270:A1852T	A	+	1	0	AD000671.1	40914765	0.027000	0.19231	0.793000	0.32043	0.786000	0.44442	2.095000	0.41729	2.659000	0.90383	0.655000	0.94253	GCC	.		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36222925	G	A	36222925	3	1	5	1	0	0	0	0	1	0	0	0	9661	1087	38	1	5660	1	MLL4	19	36222925	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5769	36222925	22906058	566	1027											
LRFN3	79414	hgsc.bcm.edu	37	chr19	36430696	36430696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggctgacctcactgggCgagggccagctgcgcggcct	15	15	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:36430696C>T	ENST00000588831.1	+	3	1423	c.369C>T	c.(367-369)ggC>ggT	p.G123G	LRFN3_ENST00000246529.3_Silent_p.G123G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	123					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTCACTGGGCGAGGGCCAGC	0.701																																					p.G123G		.											.	LRFN3-90	0			c.C369T						.						20	22	21					19																	36430696		2189	4266	6455	SO:0001819	synonymous_variant	79414	exon2			ACTGGGCGAGGGC	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.369C>T	19.37:g.36430696C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_024509	0	0	0	0	0	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			.		0.701	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		T	36430696	C	T	36430696	2	4	5	1	0	0	0	0	0	0	0	1	8974	755	27	1		1	LRFN3	19	36430696	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	207771	36430696	22698287	567	1028											
ZNF781	163115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38160733	38160733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtatgaattctttgatgtCgaataagatgtgcactccgc	9	8	1	3	rs12460961		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38160733C>T	ENST00000590008.1	-	5	1169	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.R106Q			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	106					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.R106Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCTTTGATGTCGAATAAGATG	0.368																																					p.R106Q		.											.	ZNF781-90	1	Substitution - Missense(1)	large_intestine(1)	c.G317A						.						120	117	118					19																	38160733		2203	4300	6503	SO:0001583	missense	163115	exon4			TGATGTCGAATAA	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.317G>A	19.37:g.38160733C>T	ENSP00000466370:p.Arg106Gln	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	66	34	NM_152605	0	0	1	4	3	Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403072	0.01165	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.26223	1.75	2.23	-4.45	0.03546	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.31065	0.9	0.09310	N	1	B	0.30281	0.275	B	0.30029	0.11	T	0.35500	-0.9786	9	0.02654	T	1	.	4.2745	0.10802	0.4025:0.3955:0.0:0.202	rs12460961;rs12460961	106	Q8N8C0	ZN781_HUMAN	Q	106	ENSP00000351391:R106Q	ENSP00000351391:R106Q	R	-	2	0	ZNF781	42852573	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-8.501000	0.00020	-1.354000	0.02188	-1.279000	0.01387	CGA	C|1.000;|0.000		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		T	38160733	C	T	38160733	3	4	5	1	0	0	0	0	1	0	0	0	18202	884	31	1	670	1	ZNF781	19	38160733	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1730037	38160733	20968250	568	1029											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38591715	38591715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggaagcacaaggtgggCatcctctattgcaaggccgg	14	11	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38591715C>T	ENST00000222345.6	+	6	2387	c.1878C>T	c.(1876-1878)ggC>ggT	p.G626G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	626	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)			ACAAGGTGGGCATCCTCTATT	0.607																																					p.G626G		.											.	SIPA1L3-91	0			c.C1878T						.						41	41	41					19																	38591715		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon6			GGTGGGCATCCTC	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.1878C>T	19.37:g.38591715C>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	177	32	NM_015073	0	0	0	0	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38591715	C	T	38591715	2	4	5	1	0	0	0	0	0	0	0	1	14376	697	25	3		3	SIPA1L3	19	38591715	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	430982	38591715	20537268	569	1030											
DPF1	8193	hgsc.bcm.edu	37	chr19	38713189	38713189	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccctcccggcggtaccCggcccgcggtgggtcttctc	13	19	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38713189C>T	ENST00000420980.2	-	2	296	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DPF1_ENST00000416611.1_Splice_Site_p.P64P|DPF1_ENST00000355526.4_Splice_Site_p.P90P|DPF1_ENST00000414789.1_Splice_Site_p.P8P|DPF1_ENST00000412732.1_Splice_Site_p.P8P|DPF1_ENST00000456296.1_Splice_Site_p.P64P	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	90					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGCGGTACCCGGCCCGCGGT	0.736																																					p.P90P		.											.	DPF1-90	0			c.G270A						.						13	15	14					19																	38713189		2190	4276	6466	SO:0001630	splice_region_variant	8193	exon2			GGTACCCGGCCCG	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.271+1G>A	19.37:g.38713189C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	76	44	NM_001135155	0	0	0	0	0	B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	c	0.736	-0.778249	0.02929	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40887	-0.9539	4	.	.	.	-6.8909	1.0179	0.01511	0.1736:0.2704:0.1576:0.3984	.	.	.	.	R	83	.	.	G	-	1	0	DPF1	43405029	0.000000	0.05858	0.309000	0.25155	0.292000	0.27327	-3.015000	0.00645	-3.058000	0.00257	-0.511000	0.04467	GGG	.		0.736	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1		Silent	T	38713189	C	T	38713189	5	4	5	1	0	0	0	0	0	0	1	0	4730	666	23	1	1048	1	DPF1	19	38713189	Splice_Site	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	121474	38713189	20415794	570	1031											
RYR1	6261	broad.mit.edu	37	chr19	38966036	38966036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgactccctcacgaCgtggtgcctgcagacaaccg	10	18	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38966036C>T	ENST00000359596.3	+	29	4239	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D	RYR1_ENST00000355481.4_Silent_p.D1413D|RYR1_ENST00000360985.3_Silent_p.D1413D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1413	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	TCCCTCACGACGTGGTGCCTG	0.612																																					p.D1413D		.											.	RYR1-100	0			c.C4239T						.						53	43	46					19																	38966036		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon29			TCACGACGTGGTG	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.4239C>T	19.37:g.38966036C>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	212	6	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38966036	C	T	38966036	2	4	5	1	0	0	0	0	0	0	0	1	13813	535	19	1		1	RYR1	19	38966036	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	252847	38966036	20162947	571	1032											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu	37	chr19	38993359	38993359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaggactgcctcatgtcGctctgcaggtggagcggggc	16	11	2	0	rs201827284		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:38993359G>A	ENST00000359596.3	+	48	7827	c.7827G>A	c.(7825-7827)tcG>tcA	p.S2609S	RYR1_ENST00000355481.4_Silent_p.S2609S|RYR1_ENST00000360985.3_Silent_p.S2609S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2609	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)	GCCTCATGTCGCTCTGCAGGT	0.692													G|||	1	0.000199681	0	0	5008	,	,		5451	0		0.001	False		,,,				2504	0				p.S2609S		.											.	RYR1-100	0			c.G7827A						.	G	,	0,4406		0,0,2203	39	34	36		7827,7827	-3.9	1	19		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2609/5039,2609/5034	38993359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6261	exon48			CATGTCGCTCTGC	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.7827G>A	19.37:g.38993359G>A		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	82	37	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			G|0.999;A|0.000		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38993359	G	A	38993359	2	1	5	1	0	0	0	0	0	0	0	1	13813	1074	38	1		1	RYR1	19	38993359	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	27323	38993359	20135624	572	1033											
PAK4	10298	hgsc.bcm.edu	37	chr19	39663757	39663757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagggaaggcaggcagccGaggccggttcgccggtcaca	16	14	1	0	rs56099436	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39663757G>A	ENST00000593690.1	+	5	831	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	PAK4_ENST00000599386.1_Intron|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.R135Q|PAK4_ENST00000321944.4_Intron|PAK4_ENST00000358301.3_Missense_Mutation_p.R135Q|PAK4_ENST00000435673.2_Missense_Mutation_p.R135Q	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	135	Linker.		R -> Q (in dbSNP:rs56099436). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCAGGCAGCCGAGGCCGGTTC	0.736													g|||	34	0.00678914	8e-04	0.0115	5008	,	,		10680	0		0.0189	False		,,,				2504	0.0061				p.R135Q		.											.	PAK4-957	0			c.G404A						.		GLN/ARG,GLN/ARG,,,GLN/ARG	13,3671		0,13,1829	3	4	4		404,404,,,404	1.7	0	19	dbSNP_129	4	147,7075		0,147,3464	no	missense,missense,intron,intron,missense	PAK4	NM_001014831.2,NM_001014832.1,NM_001014834.2,NM_001014835.1,NM_005884.3	43,43,,,43	0,160,5293	AA,AG,GG		2.0354,0.3529,1.4671	possibly-damaging,possibly-damaging,,,possibly-damaging	135/592,135/592,,,135/592	39663757	160,10746	1842	3611	5453	SO:0001583	missense	10298	exon3			GCAGCCGAGGCCG	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.404G>A	19.37:g.39663757G>A	ENSP00000469413:p.Arg135Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001014832	0	0	6	14	8	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	CCDS12528.1	25	0.011446886446886446	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	15	0.01978891820580475	G	0.017	-1.510561	0.00984	0.003529	0.020354	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.71103	-0.54;-0.54;-0.54	3.9	1.73	0.24493	.	1.445110	0.04338	N	0.353591	T	0.32734	0.0839	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21075	-1.0256	10	0.12430	T	0.62	.	7.4578	0.27276	0.3592:0.0:0.6408:0.0	rs56099436	135	O96013	PAK4_HUMAN	Q	135	ENSP00000351049:R135Q;ENSP00000392753:R135Q;ENSP00000353625:R135Q	ENSP00000351049:R135Q	R	+	2	0	PAK4	44355597	0.000000	0.05858	0.026000	0.17262	0.011000	0.07611	0.293000	0.19029	-0.014000	0.14175	-1.157000	0.01802	CGA	G|0.989;A|0.011		0.736	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39663757	G	A	39663757	3	1	5	1	0	0	0	0	1	0	0	0	11442	1058	37	1	410	1	PAK4	19	39663757	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	670398	39663757	19465226	573	1034											
SYCN	342898	hgsc.bcm.edu	37	chr19	39694831	39694831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcggaggcggggcaggCgccctgggcgcaaggcacgg	22	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39694831C>T	ENST00000318438.6	-	1	75	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	22					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGGGGCAGGCGCCCTGGGCG	0.701																																					p.A22T		.											.	SYCN-68	0			c.G64A						.						12	13	12					19																	39694831		1904	4032	5936	SO:0001583	missense	342898	exon1			GGCAGGCGCCCTG	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"insulin synthesis associated 1"	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.64G>A	19.37:g.39694831C>T	ENSP00000325564:p.Ala22Thr	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	40	19	NM_001080468	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318438.6	37	CCDS46070.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914117	0.33815	.	.	ENSG00000179751	ENST00000318438	T	0.47869	0.83	4.3	0.664	0.17890	.	2.019990	0.02952	N	0.141838	T	0.42131	0.1189	L	0.50333	1.59	0.09310	N	1	D	0.61080	0.989	B	0.41412	0.356	T	0.35001	-0.9806	10	0.49607	T	0.09	-2.5601	5.0891	0.14698	0.0:0.4849:0.3231:0.1919	.	22	Q0VAF6	SYCN_HUMAN	T	22	ENSP00000325564:A22T	ENSP00000325564:A22T	A	-	1	0	SYCN	44386671	0.008000	0.16893	0.046000	0.18839	0.335000	0.28730	0.097000	0.15168	0.065000	0.16485	0.491000	0.48974	GCC	.		0.701	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1			T	39694831	C	T	39694831	3	4	5	1	0	0	0	0	1	0	0	0	15477	768	27	1	348	1	SYCN	19	39694831	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	31074	39694831	19434152	574	1035											
LRFN1	57622	hgsc.bcm.edu	37	chr19	39805167	39805167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcaggtctctaagtcGtcctcgcgggtcagccgccg	15	14	2	0	rs374857273		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:39805167G>A	ENST00000248668.4	-	1	809	c.810C>T	c.(808-810)gaC>gaT	p.D270D	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	270	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCTAAGTCGTCCTCGCGGG	0.692																																					p.D270D		.											.	LRFN1-70	0			c.C810T						.	G		0,4386		0,0,2193	20	27	25		810	-6.5	0.9	19		25	1,8579		0,1,4289	no	coding-synonymous	LRFN1	NM_020862.1		0,1,6482	AA,AG,GG		0.0117,0.0,0.0077		270/772	39805167	1,12965	2193	4290	6483	SO:0001819	synonymous_variant	57622	exon1			TAAGTCGTCCTCG	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.810C>T	19.37:g.39805167G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	58	27	NM_020862	0	0	1	5	4	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																			.		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		A	39805167	G	A	39805167	2	1	5	1	0	0	0	0	0	0	0	1	8972	1136	40	1		1	LRFN1	19	39805167	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	110336	39805167	19323816	575	1036											
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr19	40412003	40412003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaaagggaatcacatcCggggccagggtagaaggtct	16	8	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:40412003C>T	ENST00000221347.6	-	7	3632	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1209	Cys-rich.					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)			GAATCACATCCGGGGCCAGGG	0.667																																					p.G1209R		.											.	FCGBP-98	0			c.G3625A						.						41	41	41					19																	40412003		2203	4300	6503	SO:0001583	missense	8857	exon7			CACATCCGGGGCC	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.3625G>A	19.37:g.40412003C>T	ENSP00000221347:p.Gly1209Arg	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	169	21	NM_003890	0	0	0	0	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793813	0.16327	.	.	ENSG00000090920	ENST00000221347	T	0.05996	3.36	4.3	0.552	0.17230	.	1.743160	0.02910	N	0.136611	T	0.19604	0.0471	M	0.78916	2.43	0.09310	N	1	D	0.56287	0.975	P	0.59221	0.854	T	0.32745	-0.9895	10	0.16420	T	0.52	.	7.3105	0.26471	0.0:0.4198:0.0:0.5802	.	1209	Q9Y6R7	FCGBP_HUMAN	R	1209	ENSP00000221347:G1209R	ENSP00000221347:G1209R	G	-	1	0	FCGBP	45103843	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.119000	0.10676	0.001000	0.14605	-0.436000	0.05848	GGA	.		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40412003	C	T	40412003	3	4	5	1	0	0	0	0	1	0	0	0	5800	661	23	1	12712	1	FCGBP	19	40412003	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	606836	40412003	18716980	576	1037											
FCGBP	8857	hgsc.bcm.edu	37	chr19	40430566	40430566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacacccggccttcccGcctaccacctggcagcgctg	9	21	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:40430566G>A	ENST00000221347.6	-	3	1384	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	459						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)			CGGCCTTCCCGCCTACCACCT	0.677																																					p.G459G		.											.	FCGBP-98	0			c.C1377T						.						21	18	19					19																	40430566		2197	4293	6490	SO:0001819	synonymous_variant	8857	exon3			CTTCCCGCCTACC	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.1377C>T	19.37:g.40430566G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	40	14	NM_003890	0	0	0	0	0	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			.		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40430566	G	A	40430566	2	1	5	1	0	0	0	0	0	0	0	1	5800	1074	38	1		1	FCGBP	19	40430566	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	18563	40430566	18698417	577	1038											
B3GNT8	593	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	41931793	41931793	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggctgggtagccaccttcGaagaaggactcgggcacata	13	10	0	1	rs147647792		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:41931793G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'Flank|B3GNT8_ENST00000321702.2_Silent_p.F297F|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGCCACCTTCGAAGAAGGACT	0.667																																					p.F297F		.											.	B3GNT8-90	0			c.C891T						.	G		0,4404		0,0,2202	27	29	28		891	-7.1	0.1	19	dbSNP_134	28	1,8591		0,1,4295	no	coding-synonymous	B3GNT8	NM_198540.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		297/398	41931793	1,12995	2202	4296	6498	SO:0001628	intergenic_variant	374907	exon3			ACCTTCGAAGAAG	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931793G>A		Somatic	59	1		WXS	Illumina GAIIx	Phase_I	166	56	NM_198540	0	0	1	1	0	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																			G|1.000;A|0.000		0.667	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		A	41931793	G	A	41931793	1	1	5	0	1	0	0	0	0	0	0	0	1264	1049	37	1		1	B3GNT8	19	41931793	IGR	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1501227	41931793	17197190	578	1039											
IRGC	56269	hgsc.bcm.edu	37	chr19	44223766	44223766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctattcccagtcgtccgaCggcgccatgcgggtggcccg	13	16	1	0	rs560626765		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:44223766C>T	ENST00000244314.5	+	2	1255	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	352						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGTCGTCCGACGGCGCCATGC	0.657													C|||	1	0.000199681	0	0.0014	5008	,	,		16605	0		0	False		,,,				2504	0				p.D352D	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C1056T						.						38	39	39					19																	44223766		2203	4300	6503	SO:0001819	synonymous_variant	56269	exon2			GTCCGACGGCGCC	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1056C>T	19.37:g.44223766C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	84	48	NM_019612	0	0	0	0	0	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			.		0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		T	44223766	C	T	44223766	2	4	5	1	0	0	0	0	0	0	0	1	7865	535	19	1		1	IRGC	19	44223766	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2291973	44223766	14905217	579	1040											
ZNF296	162979	broad.mit.edu	37	chr19	45578983	45578983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactcacctgagccctggcCgcggctggggcctctgaaga	13	14	2	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:45578983C>T	ENST00000303809.2	-	2	650	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	CTB-179K24.3_ENST00000586744.1_RNA	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	146					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GAGCCCTGGCCGCGGCTGGGG	0.657																																					p.G146S		.											.	ZNF296-90	0			c.G436A						.						40	47	45					19																	45578983		2203	4300	6503	SO:0001583	missense	162979	exon2			CCTGGCCGCGGCT	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.436G>A	19.37:g.45578983C>T	ENSP00000302770:p.Gly146Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	178	5	NM_145288	0	0	0	0	0		Missense_Mutation	SNP	ENST00000303809.2	37	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	c	6.731	0.503628	0.12822	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.04502	3.61	4.53	-9.07	0.00724	.	1.434950	0.04543	N	0.388591	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44019	-0.9355	10	0.52906	T	0.07	-0.0023	0.7007	0.00907	0.2336:0.3135:0.1564:0.2965	.	146	Q8WUU4	ZN296_HUMAN	S	146;122	ENSP00000302770:G146S	ENSP00000302770:G146S	G	-	1	0	ZNF296	50270823	0.000000	0.05858	0.001000	0.08648	0.521000	0.34408	-2.260000	0.01177	-1.677000	0.01455	-0.357000	0.07601	GGC	.		0.657	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		T	45578983	C	T	45578983	3	4	5	1	0	0	0	0	1	0	0	0	17876	652	23	1	999	1	ZNF296	19	45578983	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1355217	45578983	13550000	580	1041											
KLC3	147700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	45852157	45852157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagcccctgtgccagcGcgctttggagatccgagaga	15	12	0	3	rs190310418	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:45852157G>A	ENST00000391946.2	+	7	1049	c.947G>A	c.(946-948)cGc>cAc	p.R316H	KLC3_ENST00000470402.1_Missense_Mutation_p.R330H|KLC3_ENST00000585434.1_Missense_Mutation_p.R315H	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	316					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGTGCCAGCGCGCTTTGGAG	0.657													G|||	2	0.000399361	0	0.0029	5008	,	,		15800	0		0	False		,,,				2504	0				p.R316H		.											.	KLC3-91	0			c.G947A						.	G	HIS/ARG	0,4192		0,0,2096	25	31	29		947	3.6	1	19		29	1,8425		0,1,4212	no	missense	KLC3	NM_177417.2	29	0,1,6308	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging	316/505	45852157	1,12617	2096	4213	6309	SO:0001583	missense	147700	exon7			GCCAGCGCGCTTT	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.947G>A	19.37:g.45852157G>A	ENSP00000375810:p.Arg316His	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	122	29	NM_177417	0	0	5	7	2	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	26.3	4.724946	0.89298	0.0	1.19E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.94758	-3.51;-3.51	3.62	3.62	0.41486	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.072184	0.52532	D	0.000069	D	0.96914	0.8992	M	0.82923	2.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.99;0.994	D	0.97315	0.9940	10	0.87932	D	0	-30.4627	13.183	0.59666	0.0:0.0:1.0:0.0	.	315;330;316	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	H	316;330	ENSP00000375810:R316H;ENSP00000436019:R330H	ENSP00000375810:R316H	R	+	2	0	KLC3	50543997	1.000000	0.71417	0.952000	0.39060	0.946000	0.59487	9.554000	0.98121	2.030000	0.59900	0.561000	0.74099	CGC	G|0.999;A|0.000		0.657	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		A	45852157	G	A	45852157	3	1	5	1	0	0	0	0	1	0	0	0	8362	1087	38	1	969	1	KLC3	19	45852157	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	273174	45852157	13276826	581	1042											
EML2	24139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	46129994	46129994	+	Frame_Shift_Del	DEL	C	C	-													cttgccgcttgctcaagctgCccccctccaaggtccagaag					rs149378245		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:46129994delC	ENST00000245925.3	-	8	760	c.710delG	c.(709-711)ggcfs	p.G237fs	EML2_ENST00000587152.1_Frame_Shift_Del_p.G438fs|EML2_ENST00000536630.1_Frame_Shift_Del_p.G384fs|EML2_ENST00000589876.1_Frame_Shift_Del_p.G237fs|EML2_ENST00000586902.1_5'UTR	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	237	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCTCAAGCTGCCCCCCTCCAA	0.597																																					p.G438fs		.											.	EML2-154	0			c.1313delG						.						84	83	83					19																	46129994		2203	4300	6503	SO:0001589	frameshift_variant	24139	exon11			AAGCTGCCCCCCT	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.710delG	19.37:g.46129994delC	ENSP00000245925:p.Gly237fs	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	130	50	NM_001193268	0	0	0	0	0	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Frame_Shift_Del	DEL	ENST00000245925.3	37	CCDS12670.1																																																																																			.		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		-	46129994	C	-	46129994	7	5	5	1	0	1	0	1	0	0	0	0	5113	739	26	0	1287	0	EML2	19	46129994	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	277837	46129994	12998989	582	1043											
DMWD	1762	hgsc.bcm.edu	37	chr19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-													gagggtgcgggtgcgggccaGgggggggtgcgggtagagca							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)ctgfs	p.L456fs	DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711																																					p.L456fs		.											.	DMWD-90	0			c.1366delC						.						4	6	5					19																	46289388		1989	3960	5949	SO:0001589	frameshift_variant	1762	exon3			GGGCCAGGGGGGG	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1366delC	19.37:g.46289388delG	ENSP00000270223:p.Leu456fs	Somatic	15	1		WXS	Illumina GAIIx	Phase_I	143	69	NM_004943	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000270223.6	37	CCDS33054.1																																																																																			.		0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		-	46289388	G	-	46289388	7	5	5	1	0	1	0	1	0	0	0	0	4607	991	35	0	670	0	DMWD	19	46289388	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	159394	46289388	12839595	583	1044											
FKRP	79147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47259950	47259950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaagcaaccacttgcacGtggacctgtggcccttctac	10	14	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47259950G>A	ENST00000318584.5	+	4	1540	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.V415M	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	415					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)		CCACTTGCACGTGGACCTGTG	0.627																																					p.V415M		.											.	FKRP-91	0			c.G1243A						.						97	55	69					19																	47259950		2203	4300	6503	SO:0001583	missense	79147	exon4			TTGCACGTGGACC	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.1243G>A	19.37:g.47259950G>A	ENSP00000326570:p.Val415Met	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	123	55	NM_024301	0	0	4	15	11	A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190518	0.78789	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99829	-7.0;-7.0	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97102	0.9798	10	0.87932	D	0	-22.4694	17.3873	0.87420	0.0:0.0:1.0:0.0	.	415	Q9H9S5	FKRP_HUMAN	M	415	ENSP00000375776:V415M;ENSP00000326570:V415M	ENSP00000326570:V415M	V	+	1	0	FKRP	51951790	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	9.525000	0.98039	2.413000	0.81919	0.305000	0.20034	GTG	.		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		A	47259950	G	A	47259950	3	1	5	1	0	0	0	0	1	0	0	0	5939	1145	40	1	1245	1	FKRP	19	47259950	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	970562	47259950	11869033	584	1045											
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47571027	47571027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctccccaactgaagccGggggtcggctggacgtctgc	14	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47571027G>A	ENST00000253048.5	-	15	2535	c.2498C>T	c.(2497-2499)cCg>cTg	p.P833L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	833							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AACTGAAGCCGGGGGTCGGCT	0.647																																					p.P833L		.											.	ZC3H4-74	0			c.C2498T						.						15	17	16					19																	47571027		1984	4136	6120	SO:0001583	missense	23211	exon15			GAAGCCGGGGGTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2498C>T	19.37:g.47571027G>A	ENSP00000253048:p.Pro833Leu	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	83	42	NM_015168	0	0	3	7	4	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	6.778	0.512434	0.12944	.	.	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.58	2.14	0.27477	.	0.214143	0.40302	N	0.001126	T	0.07052	0.0179	N	0.08118	0	0.39982	D	0.974929	P	0.51351	0.944	B	0.33392	0.163	T	0.27971	-1.0058	10	0.52906	T	0.07	.	12.6555	0.56786	0.0:0.0:0.4152:0.5848	.	833	Q9UPT8	ZC3H4_HUMAN	L	833	ENSP00000253048:P833L	ENSP00000253048:P833L	P	-	2	0	ZC3H4	52262867	0.771000	0.28555	0.806000	0.32338	0.047000	0.14425	1.018000	0.30002	0.394000	0.25230	-0.262000	0.10625	CCG	.		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47571027	G	A	47571027	3	1	5	1	0	0	0	0	1	0	0	0	17618	1116	39	1	1417	1	ZC3H4	19	47571027	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	311077	47571027	11557956	585	1046											
DHX34	9704	broad.mit.edu;bcgsc.ca	37	chr19	47856391	47856391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactggaattgtccagagaCgcgtcgcctcttggaagatg	14	9	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:47856391C>T	ENST00000328771.4	+	2	453	c.104C>T	c.(103-105)aCg>aTg	p.T35M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	35					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGTCCAGAGACGCGTCGCCTC	0.562																																					p.T35M		.											.	DHX34-231	0			c.C104T						.						57	53	55					19																	47856391		2203	4300	6503	SO:0001583	missense	9704	exon2			CAGAGACGCGTCG	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.104C>T	19.37:g.47856391C>T	ENSP00000331907:p.Thr35Met	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	199	6	NM_014681	0	0	7	7	0	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519292	0.85495	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02787	4.16	5.84	5.84	0.93424	.	0.202151	0.34484	N	0.003928	T	0.09862	0.0242	L	0.53249	1.67	0.38998	D	0.959284	D;D	0.76494	0.986;0.999	P;P	0.55667	0.477;0.781	T	0.01925	-1.1246	10	0.45353	T	0.12	-8.8277	18.9005	0.92440	0.0:1.0:0.0:0.0	.	35;35	Q14147;B4E3G3	DHX34_HUMAN;.	M	35	ENSP00000331907:T35M	ENSP00000257252:T35M	T	+	2	0	DHX34	52548231	0.923000	0.31300	0.962000	0.40283	0.967000	0.64934	1.618000	0.36954	2.770000	0.95276	0.555000	0.69702	ACG	.		0.562	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47856391	C	T	47856391	3	4	5	1	0	0	0	0	1	0	0	0	4521	536	19	1	106	1	DHX34	19	47856391	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	285364	47856391	11272592	586	1047											
GLTSCR1	29998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	48204610	48204610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtcttcctcccgctcGctcggcctccccatcgcagc	8	20	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:48204610G>A	ENST00000396720.3	+	15	3815	c.3621G>A	c.(3619-3621)tcG>tcA	p.S1207S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1207										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)		CCTCCCGCTCGCTCGGCCTCC	0.682																																					p.S1207S		.											.	GLTSCR1-48	0			c.G3621A						.						16	20	19					19																	48204610		1995	4136	6131	SO:0001819	synonymous_variant	29998	exon15			CCGCTCGCTCGGC	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.3621G>A	19.37:g.48204610G>A		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	98	36	NM_015711	0	0	14	33	19	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			.		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48204610	G	A	48204610	2	1	5	1	0	0	0	0	0	0	0	1	6500	1074	38	1		1	GLTSCR1	19	48204610	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	348219	48204610	10924373	587	1048											
LMTK3	114783	broad.mit.edu;bcgsc.ca	37	chr19	49013775	49013775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagatgaaggCcagcaggccggagcaggaaa	19	6	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49013775C>T	ENST00000600059.1	-	2	378	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	LMTK3_ENST00000270238.3_Missense_Mutation_p.A80T|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	51					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGATGAAGGCCAGCAGGCCG	0.627																																					p.A80T		.											.	LMTK3-1357	0			c.G238A						.						45	60	55					19																	49013775		2088	4218	6306	SO:0001583	missense	114783	exon3			TGAAGGCCAGCAG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.151G>A	19.37:g.49013775C>T	ENSP00000472020:p.Ala51Thr	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	238	9	NM_001080434	0	0	0	0	0	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	c	16.76	3.211035	0.58343	.	.	ENSG00000142235	ENST00000270238	T	0.77358	-1.09	3.95	3.95	0.45737	.	0.083770	0.47093	U	0.000250	T	0.65080	0.2657	N	0.11427	0.14	0.37504	D	0.916866	P	0.51057	0.941	P	0.49332	0.607	T	0.64668	-0.6353	10	0.12766	T	0.61	.	13.9365	0.64027	0.0:1.0:0.0:0.0	.	51	Q96Q04	LMTK3_HUMAN	T	80	ENSP00000270238:A80T	ENSP00000270238:A80T	A	-	1	0	LMTK3	53705587	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.721000	0.38032	2.223000	0.72356	0.282000	0.19409	GCC	.		0.627	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		T	49013775	C	T	49013775	3	4	5	1	0	0	0	0	1	0	0	0	8890	739	26	3	4287	3	LMTK3	19	49013775	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	809165	49013775	10115208	588	1049											
RASIP1	54922	hgsc.bcm.edu	37	chr19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagccgggccaggcGgcccagcagtcgtggcaggt	17	12	0	2	rs2287922	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2	3	3		1801	4.2	1	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_017805	0	0	2	6	4	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49232226	G	A	49232226	3	1	5	1	0	0	0	0	1	0	0	0	13123	1116	39	1	1122	1	RASIP1	19	49232226	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	218451	49232226	9896757	589	1050											
PPFIA3	8541	broad.mit.edu	37	chr19	49641518	49641518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggagctggagagtcGggtgtccagctctggcttgg	19	8	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:49641518G>A	ENST00000334186.4	+	16	2259	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R637Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	637					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				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)		CTGGAGAGTCGGGTGTCCAGC	0.642																																					p.R637Q		.											.	PPFIA3-226	0			c.G1910A						.						31	33	32					19																	49641518		2203	4300	6503	SO:0001583	missense	8541	exon16			AGAGTCGGGTGTC	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.1910G>A	19.37:g.49641518G>A	ENSP00000335614:p.Arg637Gln	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	189	5	NM_003660	0	0	5	5	0	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075197	0.94000	.	.	ENSG00000177380	ENST00000334186	T	0.22539	1.95	4.36	4.36	0.52297	.	0.000000	0.42964	U	0.000623	T	0.51244	0.1663	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.91635	0.79;0.999	T	0.61392	-0.7072	10	0.87932	D	0	-13.4362	16.0201	0.80478	0.0:0.0:1.0:0.0	.	637;637	O75145-2;O75145	.;LIPA3_HUMAN	Q	637	ENSP00000335614:R637Q	ENSP00000335614:R637Q	R	+	2	0	PPFIA3	54333330	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.286000	0.95898	2.146000	0.66826	0.544000	0.68410	CGG	.		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		A	49641518	G	A	49641518	3	1	5	1	0	0	0	0	1	0	0	0	12350	1116	39	1	1968	1	PPFIA3	19	49641518	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	409292	49641518	9487465	590	1051											
ZNF473	25888	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50548675	50548675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacaactgtaacgaatgCggcaaggcttttacccggat	9	11	0	0	rs146105171		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:50548675C>T	ENST00000595661.1	+	6	1470	c.975C>T	c.(973-975)tgC>tgT	p.C325C	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C325C|ZNF473_ENST00000270617.3_Silent_p.C325C|ZNF473_ENST00000445728.3_Silent_p.C313C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	325	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTAACGAATGCGGCAAGGCTT	0.498																																					p.C325C		.											.	ZNF473-91	0			c.C975T						.	C	,	0,4406		0,0,2203	105	99	101		975,975	-3.7	0	19	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	325/872,325/872	50548675	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25888	exon5			CGAATGCGGCAAG	AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.975C>T	19.37:g.50548675C>T		Somatic	144	1		WXS	Illumina GAIIx	Phase_I	235	113	NM_015428	0	0	1	5	4	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																			C|1.000;T|0.000		0.498	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50548675	C	T	50548675	2	4	5	1	0	0	0	0	0	0	0	1	17979	776	27	1		1	ZNF473	19	50548675	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	907157	50548675	8580308	591	1052											
ZNF836	162962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	52658977	52658977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttccgatgacgtgcTaggcatgagtagtaactgaa	11	6	0	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:52658977T>C	ENST00000322146.8	-	5	2480	c.1959A>G	c.(1957-1959)ctA>ctG	p.L653L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L653L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGACGTGCTAGGCATGAGT	0.403																																					p.L653L		.											.	ZNF836-46	0			c.A1959G						.						149	160	156					19																	52658977		2159	4275	6434	SO:0001819	synonymous_variant	162962	exon5			ACGTGCTAGGCAT	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1959A>G	19.37:g.52658977T>C		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	177	18	NM_001102657	0	0	35	44	9		Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																			.		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		C	52658977	T	C	52658977	2	2	5	1	0	0	0	0	0	0	0	1	18235	1509	53	4		4	ZNF836	19	52658977	Silent	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	2110302	52658977	6470006	592	1053											
ZNF701	55762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53086056	53086056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtataaatgtgatgtatgCggcaaggactttcatcagaa	10	6	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:53086056C>T	ENST00000540331.1	+	5	1167	c.942C>T	c.(940-942)tgC>tgT	p.C314C	ZNF701_ENST00000301093.2_Silent_p.C314C|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.C248C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTGATGTATGCGGCAAGGACT	0.408																																					p.C314C	NSCLC(89;451 1475 9611 20673 52284)	.											.	ZNF701-90	0			c.C942T						.						95	90	91					19																	53086056		2203	4300	6503	SO:0001819	synonymous_variant	55762	exon5			TGTATGCGGCAAG	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.942C>T	19.37:g.53086056C>T		Somatic	293	0		WXS	Illumina GAIIx	Phase_I	375	184	NM_001172655	0	0	1	1	0	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																			.		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		T	53086056	C	T	53086056	2	4	5	1	0	0	0	0	0	0	0	1	18153	776	27	1		1	ZNF701	19	53086056	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	427079	53086056	6042927	593	1054											
ZNF665	79788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53668192	53668192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggctttgccacactcAttacacttgtaaggtttttc	6	10	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:53668192A>G	ENST00000600412.1	-	2	1471	c.1356T>C	c.(1354-1356)aaT>aaC	p.N452N	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.N517N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCCACACTCATTACACTTGT	0.388																																					p.N517N		.											.	ZNF665-70	0			c.T1551C						.						131	139	136					19																	53668192		2203	4300	6503	SO:0001819	synonymous_variant	79788	exon4			ACACTCATTACAC		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1356T>C	19.37:g.53668192A>G		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	149	85	NM_024733	0	0	4	4	0	A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																				.		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		G	53668192	A	G	53668192	2	3	5	1	0	0	0	0	0	0	0	1	18121	214	8	4		4	ZNF665	19	53668192	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	582136	53668192	5460791	594	1055											
NLRP12	91662	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54314363	54314363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtcccacggtcctcgCgtgtccccggcctgtgtcca	12	17	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54314363C>T	ENST00000324134.6	-	3	718	c.550G>A	c.(550-552)Gcg>Acg	p.A184T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A184T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A184T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGGTCCTCGCGTGTCCCCGG	0.642																																					p.V184M		.											.	NLRP12-211	1	Substitution - Missense(1)	breast(1)	c.G550A						.						85	70	75					19																	54314363		2203	4300	6503	SO:0001583	missense	91662	exon3			TCCTCGCGTGTCC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.550G>A	19.37:g.54314363C>T	ENSP00000319377:p.Ala184Thr	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	234	98	NM_144687	0	0	0	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246174	0.10130	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.04	-2.75	0.05914	.	0.569423	0.14536	N	0.313599	T	0.73385	0.3580	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.31968	0.349;0.036;0.008;0.036	B;B;B;B	0.20955	0.032;0.007;0.002;0.007	T	0.61397	-0.7071	10	0.36615	T	0.2	.	1.4061	0.02281	0.2935:0.3937:0.1351:0.1778	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	184	ENSP00000319377:A184T;ENSP00000438030:A184T;ENSP00000340473:A184T;ENSP00000346231:A184T;ENSP00000375655:A184T;ENSP00000375653:A184T;ENSP00000375652:A184T	ENSP00000319377:A184T	A	-	1	0	NLRP12	59006175	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.692000	0.05127	-0.630000	0.05567	0.297000	0.19635	GCG	.		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54314363	C	T	54314363	3	4	5	1	0	0	0	0	1	0	0	0	10513	768	27	1	2763	1	NLRP12	19	54314363	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	646171	54314363	4814620	595	1056											
CACNG6	59285	broad.mit.edu	37	chr19	54496174	54496175	+	Frame_Shift_Ins	INS	-	-	T													gcaagaggagaaccggcggcINSggggggccgcgggccggcgg					rs575512500|rs538013052	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54496174_54496175insT	ENST00000252729.2	+	1	633_634	c.43_44insT	c.(43-45)cggfs	p.R15fs	CACNG6_ENST00000352529.1_Frame_Shift_Ins_p.R15fs|CACNG6_ENST00000346968.2_Frame_Shift_Ins_p.R15fs	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAAccggcggcggggggccgcg	0.738																																					p.R15fs		.											.	CACNG6-92	0			c.43_44insT						.																																			SO:0001589	frameshift_variant	59285	exon1			CGGCGGCGGGGGG	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	Exception_encountered	19.37:g.54496174_54496175insT	ENSP00000252729:p.Arg15fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_031897	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000252729.2	37	CCDS12870.1																																																																																			.		0.738	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			T	54496175	-	T	54496174	7	5	5	1	0	1	1	0	0	0	0	0	2568	759	27	0	45	0	CACNG6	19	54496174	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	181811	54496174	4632809	596	1057											
LILRB2	10288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54782326	54782326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaagtgtggaactgcCgccatgactgacacagcagg	14	9	0	2	rs202223934		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:54782326C>T	ENST00000391749.4	-	7	1317	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	LILRB2_ENST00000391746.1_Missense_Mutation_p.R349Q|LILRB2_ENST00000391748.1_Missense_Mutation_p.R349Q|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.R233Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R349Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	349	Ig-like C2-type 4.		R -> G (in dbSNP:rs7247025).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGAACTGCCGCCATGACTG	0.562																																					p.R349Q		.											.	LILRB2-91	0			c.G1046A						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	99	101	100		1046,1046	-4.8	0	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	349/598,349/599	54782326	2,13004	2203	4300	6503	SO:0001583	missense	10288	exon7			AACTGCCGCCATG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1046G>A	19.37:g.54782326C>T	ENSP00000375629:p.Arg349Gln	Somatic	424	1		WXS	Illumina GAIIx	Phase_I	589	282	NM_005874	0	0	0	0	0	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	5.778	0.327855	0.10956	2.27E-4	1.16E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05	2.38	-4.76	0.03229	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.622570	0.01630	N	0.023492	T	0.02230	0.0069	N	0.10809	0.05	0.09310	N	1	B;B;B	0.16166	0.006;0.004;0.016	B;B;B	0.16289	0.015;0.015;0.015	T	0.42882	-0.9425	10	0.29301	T	0.29	.	5.0866	0.14687	0.6609:0.1992:0.0:0.1399	.	349;366;349	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	349;349;349;349;233	ENSP00000375628:R349Q;ENSP00000319960:R349Q;ENSP00000375629:R349Q;ENSP00000375626:R349Q;ENSP00000410117:R233Q	ENSP00000319960:R349Q	R	-	2	0	LILRB2	59474138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.822000	0.01711	-1.126000	0.02929	0.442000	0.29010	CGG	C|0.999;T|0.001		0.562	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54782326	C	T	54782326	3	4	5	1	0	0	0	0	1	0	0	0	8820	652	23	1	782	1	LILRB2	19	54782326	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	286152	54782326	4346657	597	1058											
LILRB1	10859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55144512	55144512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgcagccgggccccaCggtggcctcaggagagaacg	16	14	1	1	rs374617117		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:55144512C>T	ENST00000396331.1	+	8	1361	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	LILRB1_ENST00000396327.3_Missense_Mutation_p.T335M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T335M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T335M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T335M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T335M|LILRB1_ENST00000434867.2_Missense_Mutation_p.T335M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T371M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T335M|LILRB1_ENST00000324602.7_Missense_Mutation_p.T335M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T335M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	335	Ig-like C2-type 4.				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)	p.T335K(1)		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)		CCGGGCCCCACGGTGGCCTCA	0.607										HNSCC(37;0.09)																											p.T335M		.											.	LILRB1-137	1	Substitution - Missense(1)	lung(1)	c.C1004T						.	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	67	71	69		1004,1004,1004,1004	-4.2	0	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	335/653,335/652,335/652,335/651	55144512	1,13005	2203	4300	6503	SO:0001583	missense	10859	exon7			GCCCCACGGTGGC	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.1004C>T	19.37:g.55144512C>T	ENSP00000379622:p.Thr335Met	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	356	67	NM_001081637	0	0	0	0	0	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812542	0.16537	0.0	1.16E-4	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	2.08	-4.16	0.03869	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.335370	0.02142	N	0.057250	T	0.07728	0.0194	M	0.75447	2.3	0.09310	N	1	B;B;P;B;P	0.39071	0.451;0.23;0.649;0.419;0.658	B;B;P;B;B	0.45428	0.223;0.202;0.48;0.349;0.432	T	0.35301	-0.9794	10	0.66056	D	0.02	.	0.7148	0.00930	0.3989:0.2473:0.1982:0.1557	.	335;335;335;335;335	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	335;335;335;335;335;335;335;335;371;335;335	ENSP00000379614:T335M;ENSP00000391514:T335M;ENSP00000409968:T335M;ENSP00000379622:T335M;ENSP00000379618:T335M;ENSP00000315997:T335M;ENSP00000405243:T335M;ENSP00000379623:T335M;ENSP00000395004:T371M;ENSP00000379610:T335M;ENSP00000379608:T335M	ENSP00000315997:T335M	T	+	2	0	LILRB1	59836324	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.586000	0.02110	-0.662000	0.05338	-1.036000	0.02392	ACG	.		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			T	55144512	C	T	55144512	3	4	5	1	0	0	0	0	1	0	0	0	8819	536	19	1	1026	1	LILRB1	19	55144512	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	362186	55144512	3984471	598	1059											
SBK2	646643	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56042650	56042650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagagccccacacagaactCgtacaggaagccacggaggg	13	13	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:56042650C>T	ENST00000413299.1	-	3	353	c.316G>A	c.(316-318)Gag>Aag	p.E106K	SBK2_ENST00000344158.3_Missense_Mutation_p.E106K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACACAGAACTCGTACAGGAAG	0.657																																					p.E106K		.											.	SBK2-68	0			c.G316A						.						36	43	41					19																	56042650		2128	4237	6365	SO:0001583	missense	646643	exon3			AGAACTCGTACAG		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.316G>A	19.37:g.56042650C>T	ENSP00000389015:p.Glu106Lys	Somatic	20	1		WXS	Illumina GAIIx	Phase_I	173	43	NM_001101401	0	0	0	0	0		Missense_Mutation	SNP	ENST00000413299.1	37	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241796	0.79912	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.77358	-1.09;-1.09	4.89	4.89	0.63831	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	0.89911	0.6852	M	0.90309	3.105	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.91794	0.5446	10	0.66056	D	0.02	-32.8303	15.8993	0.79359	0.0:1.0:0.0:0.0	.	106	P0C263	SBK2_HUMAN	K	106	ENSP00000389015:E106K;ENSP00000345044:E106K	ENSP00000345044:E106K	E	-	1	0	SBK2	60734462	1.000000	0.71417	0.982000	0.44146	0.222000	0.24845	6.897000	0.75671	2.415000	0.81967	0.561000	0.74099	GAG	.		0.657	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		T	56042650	C	T	56042650	3	4	5	1	0	0	0	0	1	0	0	0	13906	893	31	1	737	1	SBK2	19	56042650	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	898138	56042650	3086333	599	1060											
FIZ1	84922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56105009	56105009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtttctcaccagtgtggaCgacctaggggtgcgggagga	18	8	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:56105009C>T	ENST00000221665.3	-	3	387	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	100					positive regulation of protein phosphorylation (GO:0001934)|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)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCAGTGTGGACGACCTAGGGG	0.642																																					p.V100I		.											.	FIZ1-90	0			c.G298A						.						10	15	13					19																	56105009		1899	3651	5550	SO:0001583	missense	84922	exon3			TGTGGACGACCTA	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.298G>A	19.37:g.56105009C>T	ENSP00000221665:p.Val100Ile	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	295	133	NM_032836	0	0	0	0	0	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291286	0.23564	.	.	ENSG00000179943	ENST00000221665	T	0.19105	2.17	3.63	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19644	0.0472	N	0.05592	-0.015	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.02646	-1.1129	9	0.02654	T	1	-29.4695	12.701	0.57032	0.0:1.0:0.0:0.0	.	100	Q96SL8	FIZ1_HUMAN	I	100	ENSP00000221665:V100I	ENSP00000221665:V100I	V	-	1	0	FIZ1	60796821	0.006000	0.16342	0.992000	0.48379	0.843000	0.47879	0.795000	0.26972	2.028000	0.59812	0.561000	0.74099	GTC	.		0.642	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		T	56105009	C	T	56105009	3	4	5	1	0	0	0	0	1	0	0	0	5922	536	19	1	1196	1	FIZ1	19	56105009	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	62359	56105009	3023974	600	1061											
ZFP28	140612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	57066397	57066397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcccttatttgtcatcGcagaagtcatactggagaaa	7	10	2	2	rs139300625		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:57066397G>A	ENST00000301318.3	+	8	2314	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	748					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATTTGTCATCGCAGAAGTCAT	0.418																																					p.R748H	Ovarian(124;554 1662 19430 21141 52494)	.											.	ZFP28-91	0			c.G2243A						.	G	HIS/ARG	0,4406		0,0,2203	130	122	124		2243	1.9	1	19	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZFP28	NM_020828.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	748/869	57066397	2,13004	2203	4300	6503	SO:0001583	missense	140612	exon8			GTCATCGCAGAAG		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2243G>A	19.37:g.57066397G>A	ENSP00000301318:p.Arg748His	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	120	26	NM_020828	0	0	5	6	1	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198907	0.38806	0.0	2.33E-4	ENSG00000196867	ENST00000301318	T	0.07688	3.17	4.01	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173881	0.29028	N	0.013373	T	0.12092	0.0294	L	0.37897	1.145	0.42055	D	0.99113	D	0.71674	0.998	D	0.64877	0.93	T	0.19289	-1.0310	10	0.41790	T	0.15	.	2.5358	0.04714	0.2985:0.0:0.4787:0.2229	.	748	Q8NHY6	ZFP28_HUMAN	H	748	ENSP00000301318:R748H	ENSP00000301318:R748H	R	+	2	0	ZFP28	61758209	0.000000	0.05858	0.964000	0.40570	0.840000	0.47671	0.390000	0.20768	1.030000	0.39839	0.561000	0.74099	CGC	G|1.000;A|0.000		0.418	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57066397	G	A	57066397	3	1	5	1	0	0	0	0	1	0	0	0	17690	1087	38	1	2273	1	ZFP28	19	57066397	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	961388	57066397	2062586	601	1062											
ZNF805	390980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	57765484	57765484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgtgtgtagtgaatgcGgaaaggccttcacccactgc	11	10	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:57765484G>A	ENST00000414468.2	+	4	1297	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	ZNF805_ENST00000535550.1_Missense_Mutation_p.G300R|ZNF805_ENST00000354309.4_Missense_Mutation_p.G300R	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TAGTGAATGCGGAAAGGCCTT	0.502																																					p.G433R		.											.	.	0			c.G1297A						.						42	43	43					19																	57765484		692	1591	2283	SO:0001583	missense	390980	exon4			GAATGCGGAAAGG	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1297G>A	19.37:g.57765484G>A	ENSP00000412999:p.Gly433Arg	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	125	52	NM_001023563	0	0	2	2	0	B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194206	0.58017	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.21361	2.01;2.01;2.01	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240490	0.22081	N	0.064884	T	0.47875	0.1469	M	0.79614	2.46	0.32055	N	0.596462	D	0.89917	1.0	D	0.78314	0.991	T	0.60177	-0.7314	10	0.72032	D	0.01	.	15.828	0.78730	0.0:0.0:1.0:0.0	.	433	Q5CZA5	ZN805_HUMAN	R	300;433;300	ENSP00000440067:G300R;ENSP00000412999:G433R;ENSP00000365414:G300R	ENSP00000365414:G300R	G	+	1	0	ZNF805	62457296	0.978000	0.34361	0.984000	0.44739	0.492000	0.33523	1.723000	0.38053	2.322000	0.78497	0.563000	0.77884	GGA	.		0.502	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		A	57765484	G	A	57765484	3	1	5	1	0	0	0	0	1	0	0	0	18220	1117	39	1	1311	1	ZNF805	19	57765484	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	699087	57765484	1363499	602	1063											
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58004983	58004983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtggaaaattctataGccacaagtccaaccttatca	6	9	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58004983G>A	ENST00000221735.7	+	5	1244	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S321N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S307N|ZNF419_ENST00000442920.2_Missense_Mutation_p.S340N|ZNF419_ENST00000424930.2_Missense_Mutation_p.S354N|ZNF419_ENST00000426954.2_Missense_Mutation_p.S341N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S341N			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAATTCTATAGCCACAAGTCC	0.413																																					p.S354N		.											.	ZNF419-90	0			c.G1061A						.						79	83	81					19																	58004983		2202	4300	6502	SO:0001583	missense	79744	exon5			TCTATAGCCACAA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1058G>A	19.37:g.58004983G>A	ENSP00000221735:p.Ser353Asn	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	150	26	NM_001098491	0	0	8	10	2	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896499	0.33442	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	1.8	-0.719	0.11201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	N	0.17800	0.525	0.09310	N	1	D;P;D;D;P;D;P	0.62365	0.96;0.955;0.991;0.978;0.603;0.973;0.603	P;B;P;P;B;P;B	0.60949	0.881;0.402;0.843;0.785;0.216;0.679;0.216	T	0.32052	-0.9921	9	0.28530	T	0.3	.	4.6565	0.12620	0.0:0.3398:0.3201:0.34	.	307;307;340;341;354;321;353	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	N	328;354;341;341;340;354;321;307;353	ENSP00000388864:S354N;ENSP00000390916:S341N;ENSP00000346136:S341N;ENSP00000414709:S340N;ENSP00000299860:S321N;ENSP00000392129:S307N;ENSP00000221735:S353N	ENSP00000221735:S353N	S	+	2	0	ZNF419	62696795	0.000000	0.05858	0.002000	0.10522	0.790000	0.44656	-1.726000	0.01861	-0.098000	0.12285	0.205000	0.17691	AGC	.		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		A	58004983	G	A	58004983	3	1	5	1	0	0	0	0	1	0	0	0	17944	971	34	3	1079	3	ZNF419	19	58004983	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	239499	58004983	1124000	603	1064											
ZNF135	7694	broad.mit.edu	37	chr19	58578302	58578302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgccggtggccttcacGcctgtgaagacgcctgttct	13	13	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58578302G>A	ENST00000313434.5	+	5	551	c.450G>A	c.(448-450)acG>acA	p.T150T	ZNF135_ENST00000359978.6_Silent_p.T162T|ZNF135_ENST00000511556.1_Silent_p.T162T|ZNF135_ENST00000439855.2_Silent_p.T150T|ZNF135_ENST00000401053.4_Silent_p.T174T|ZNF135_ENST00000506786.1_Silent_p.T108T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	150					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)		TGGCCTTCACGCCTGTGAAGA	0.552																																					p.T174T		.											.	ZNF135-91	0			c.G522A						.						80	67	71					19																	58578302		2203	4300	6503	SO:0001819	synonymous_variant	7694	exon4			CTTCACGCCTGTG	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.450G>A	19.37:g.58578302G>A		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	208	6	NM_007134	0	0	6	6	0	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278736	0.05679	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.43	-6.86	0.01676	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05818	-1.0862	4	.	.	.	.	4.2769	0.10813	0.5563:0.0832:0.187:0.1734	.	.	.	.	H	168	.	.	R	+	2	0	ZNF135	63270114	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.972000	0.00086	-1.207000	0.01640	CGC	.		0.552	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		A	58578302	G	A	58578302	2	1	5	1	0	0	0	0	0	0	0	1	17773	1074	38	1		1	ZNF135	19	58578302	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	573319	58578302	550681	604	1065											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600183	58600183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaattgaggatgagcccGcaggggagcccagcagcatc	14	10	0	3	rs73058515		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr19:58600183G>A	ENST00000240727.6	-	3	824	c.425C>T	c.(424-426)gCg>gTg	p.A142V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A142V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A198V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A7V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	142					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)		GGATGAGCCCGCAGGGGAGCC	0.597																																					p.A198V		.											.	ZSCAN18-90	0			c.C593T						.						61	64	63					19																	58600183		2203	4300	6503	SO:0001583	missense	65982	exon3			GAGCCCGCAGGGG	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.425C>T	19.37:g.58600183G>A	ENSP00000240727:p.Ala142Val	Somatic	43	2		WXS	Illumina GAIIx	Phase_I	89	45	NM_001145542	0	0	3	6	3	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713415	0.30413	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.54;4.21	2.43	-4.86	0.03132	Transcription regulator SCAN (1);	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;P;P;D;P	0.69078	0.122;0.801;0.879;0.997;0.469	B;B;B;P;B	0.50934	0.022;0.086;0.142;0.654;0.061	T	0.20306	-1.0279	9	0.02654	T	1	0.3555	6.8755	0.24145	0.16:0.6375:0.2025:0.0	.	198;7;212;142;142	B4DG23;E9PBI0;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;.;ZSC18_HUMAN	V	198;142;7	ENSP00000240727:A142V;ENSP00000392653:A7V	ENSP00000240727:A142V	A	-	2	0	ZSCAN18	63291995	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.901000	0.04093	-0.837000	0.04223	0.561000	0.74099	GCG	G|1.000;T|0.000		0.597	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		A	58600183	G	A	58600183	3	1	5	1	0	0	0	0	1	0	0	0	18278	1087	38	1	1127	1	ZSCAN18	19	58600183	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	21881	58600183	528800	605	1066											
PDYN	5173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	1961122	1961122	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcccccatagcgtttGtacaggtcctcatggcccat	9	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:1961122G>T	ENST00000217305.2	-	4	837	c.612C>A	c.(610-612)taC>taA	p.Y204*	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Nonsense_Mutation_p.Y204*|PDYN_ENST00000540134.1_Nonsense_Mutation_p.Y204*	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	204					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGCGTTTGTACAGGTCCT	0.587																																					p.Y204X		.											.	PDYN-92	0			c.C612A						.						103	114	110					20																	1961122		2203	4300	6503	SO:0001587	stop_gained	5173	exon4			GCGTTTGTACAGG		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.612C>A	20.37:g.1961122G>T	ENSP00000217305:p.Tyr204*	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	88	83	NM_001190898	0	0	0	0	0	A8K0Q3	Nonsense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071826	0.93950	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	.	.	.	5.0	0.861	0.19048	.	0.138304	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-16.2348	4.6388	0.12538	0.3516:0.1535:0.4949:0.0	.	.	.	.	X	204	.	ENSP00000217305:Y204X	Y	-	3	2	PDYN	1909122	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	0.488000	0.22371	0.317000	0.23160	0.313000	0.20887	TAC	.		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			T	1961122	G	T	1961122	4	4	5	1	0	0	0	0	0	1	0	0	11738	1372	48	3	156	3	PDYN	20	1961122	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		1961122	61064398	606	1067											
FASTKD5	60493	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	3127458	3127458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactttctcatgaagaaaCgccaacttttctaagcgagt	6	9	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:3127458C>T	ENST00000380266.3	-	2	2580	c.2259G>A	c.(2257-2259)gcG>gcA	p.A753A	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	753	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CATGAAGAAACGCCAACTTTT	0.478																																					p.A753A		.											.	FASTKD5-90	0			c.G2259A						.						120	118	119					20																	3127458		2203	4300	6503	SO:0001819	synonymous_variant	60493	exon2			AAGAAACGCCAAC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2259G>A	20.37:g.3127458C>T		Somatic	168	2		WXS	Illumina GAIIx	Phase_I	133	119	NM_021826	0	0	0	25	25	Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	CCDS13048.1																																																																																			.		0.478	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		T	3127458	C	T	3127458	2	4	5	1	0	0	0	0	0	0	0	1	5710	523	19	1		1	FASTKD5	20	3127458	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1166336	3127458	59898062	607	1068											
C20orf27	54976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3734755	3734755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcgtattccagctcggCgcccacacacttgacaccat	8	15	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:3734755C>T	ENST00000379772.3	-	6	1285	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	C20orf27_ENST00000217195.8_Missense_Mutation_p.A184T	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	159										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TCCAGCTCGGCGCCCACACAC	0.682																																					p.A184T		.											.	C20orf27-90	0			c.G550A						.						55	44	48					20																	3734755		2203	4300	6503	SO:0001583	missense	54976	exon6			GCTCGGCGCCCAC	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.475G>A	20.37:g.3734755C>T	ENSP00000369097:p.Ala159Thr	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	211	55	NM_001039140	0	0	19	23	4	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556725	0.65425	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.32466	0.0830	N	0.17474	0.49	0.40018	D	0.975373	B;B	0.32800	0.107;0.385	B;B	0.25884	0.013;0.064	T	0.22208	-1.0223	8	0.44086	T	0.13	-5.5331	9.4974	0.38997	0.0:0.907:0.0:0.093	.	159;184	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	T	159;184;159;118	.	ENSP00000217195:A184T	A	-	1	0	C20orf27	3682755	0.955000	0.32602	0.974000	0.42286	0.997000	0.91878	2.312000	0.43726	2.666000	0.90696	0.655000	0.94253	GCC	.		0.682	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		T	3734755	C	T	3734755	3	4	5	1	0	0	0	0	1	0	0	0	2114	768	27	1	53	1	C20orf27	20	3734755	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	607297	3734755	59290765	608	1069											
ESF1	51575	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	13695562	13695563	+	Frame_Shift_Del	DEL	TT	TT	-													tcttgcttgaaactgctctgTtttggtttttatagatttaa							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:13695562_13695563delTT	ENST00000202816.1	-	14	2621_2622	c.2514_2515delAA	c.(2512-2517)aaaacafs	p.KT838fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	838	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AACTGCTCTGTTTTGGTTTTTA	0.297																																					p.838_839del		.											.	ESF1-91	0			c.2514_2515del						.																																			SO:0001589	frameshift_variant	51575	exon14			GCTCTGTTTTGGT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2514_2515delAA	20.37:g.13695564_13695565delTT	ENSP00000202816:p.Lys838fs	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	46	40	NM_001276380	0	0	0	0	0	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Del	DEL	ENST00000202816.1	37	CCDS13117.1																																																																																			.		0.297	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		-	13695563	TT	-	13695562	7	5	5	1	0	1	0	1	0	0	0	0	5267	1725	60	0	44	0	ESF1	20	13695562	Frame_Shift_Del	DEL	TT	TCGA-OR-A5J5-01A-11D-A29I-10	9960807	13695562	49329958	609	1070											
C20orf12	55184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	18424085	18424085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaaagggatctgatggcCggggggcaaggcagtgggca	20	7	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:18424085C>T	ENST00000358866.6	-	7	675	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	DZANK1_ENST00000262547.5_Missense_Mutation_p.R218Q|DZANK1_ENST00000357236.4_Missense_Mutation_p.R104Q|DZANK1_ENST00000329494.5_Missense_Mutation_p.R220Q|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	218							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATCTGATGGCCGGGGGGCAAG	0.542																																					p.R218Q		.											.	.	0			c.G653A						.						20	21	21					20																	18424085		1870	4032	5902	SO:0001583	missense	55184	exon8			GATGGCCGGGGGG	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.653G>A	20.37:g.18424085C>T	ENSP00000351734:p.Arg218Gln	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	215	199	NM_001099407	0	0	0	0	0	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.986738|2.986738	0.53934|0.53934	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27	5.49|5.49	3.57|3.57	0.40892|0.40892	.|.	.|0.095474	.|0.85682	.|D	.|0.000000	T|T	0.69169|0.69169	0.3081|0.3081	M|M	0.68317|0.68317	2.08|2.08	0.43982|0.43982	D|D	0.996674|0.996674	.|D;P;D	.|0.89917	.|0.999;0.825;1.0	.|D;B;D	.|0.63877	.|0.919;0.339;0.911	T|T	0.70648|0.70648	-0.4814|-0.4814	5|10	.|0.87932	.|D	.|0	-9.1595|-9.1595	10.0958|10.0958	0.42475|0.42475	0.0:0.8363:0.0:0.1637|0.0:0.8363:0.0:0.1637	.|.	.|237;104;218	.|B7Z631;Q9NVP4-4;Q9NVP4	.|.;.;DZAN1_HUMAN	S|Q	17|45;218;220;44;44;104	.|ENSP00000366857:R45Q;ENSP00000262547:R218Q;ENSP00000328866:R220Q;ENSP00000349774:R104Q	.|ENSP00000262547:R218Q	G|R	-|-	1|2	0|0	C20orf12|C20orf12	18372085|18372085	1.000000|1.000000	0.71417|0.71417	0.443000|0.443000	0.26883|0.26883	0.128000|0.128000	0.20619|0.20619	5.636000|5.636000	0.67848|0.67848	0.809000|0.809000	0.34255|0.34255	0.650000|0.650000	0.86243|0.86243	GGC|CGG	.		0.542	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		T	18424085	C	T	18424085	3	4	5	1	0	0	0	0	1	0	0	0	2092	652	23	1	1661	1	C20orf12	20	18424085	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4728523	18424085	44601435	610	1071											
CST2	1470	bcgsc.ca	37	chr20	23805918	23805918	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttggtacatatggttcGgcccacctctatgtcgaaga	11	10	1	1	rs6049157	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:23805918G>A	ENST00000304725.2	-	2	341	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	91					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CATATGGTTCGGCCCACCTCT	0.552													g|||	54	0.0107827	0.0401	0	5008	,	,		17452	0		0	False		,,,				2504	0.001				p.R91X	Pancreas(193;496 3017 22514 29918)	.											.	CST2-90	0			c.C271T						.	G	stop/ARG	146,4260	101.6+/-140.2	1,144,2058	365	275	306		271	1.3	0.5	20	dbSNP_114	306	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CST2	NM_001322.2		1,145,6357	AA,AG,GG		0.0116,3.3137,1.1302		91/142	23805918	147,12859	2203	4300	6503	SO:0001587	stop_gained	1470	exon2			TGGTTCGGCCCAC	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.271C>T	20.37:g.23805918G>A	ENSP00000307540:p.Arg91*	Somatic	372	1		WXS	Illumina GAIIx	Phase_I	332	9	NM_001322	0	0	0	0	0	Q9UCQ7	Nonsense_Mutation	SNP	ENST00000304725.2	37	CCDS13161.1	25	0.011446886446886446	25	0.0508130081300813	0	0.0	0	0.0	0	0.0	G	18.26	3.585602	0.66105	0.033137	1.16E-4	ENSG00000170369	ENST00000304725	.	.	.	2.36	1.31	0.21738	.	0.140539	0.47093	U	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0602	0.19835	0.0:0.0:0.6958:0.3042	rs6049157;rs6049157	.	.	.	X	91	.	ENSP00000307540:R91X	R	-	1	2	CST2	23753918	0.552000	0.26505	0.453000	0.27007	0.269000	0.26545	0.462000	0.21956	0.275000	0.22094	0.306000	0.20318	CGA	G|0.988;A|0.012		0.552	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			A	23805918	G	A	23805918	4	1	5	1	0	0	0	0	0	1	0	0	3981	1124	39	1	162	1	CST2	20	23805918	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5381833	23805918	39219602	611	1072											
PLAGL2	5326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	30785207	30785207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccgcctgctacccggCgtgagtgggccttcaggtgc	15	14	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:30785207C>T	ENST00000246229.4	-	3	803	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	180					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTACCCGGCGTGAGTGGGC	0.622																																					p.R180H	Colon(163;15 1893 11280 16306 47518)	.											.	PLAGL2-651	0			c.G539A						.						25	22	23					20																	30785207		2202	4300	6502	SO:0001583	missense	5326	exon3			ACCCGGCGTGAGT		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.539G>A	20.37:g.30785207C>T	ENSP00000246229:p.Arg180His	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	95	14	NM_002657	0	0	0	0	0	A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149447	0.78001	.	.	ENSG00000126003	ENST00000246229	T	0.09630	2.96	5.13	5.13	0.70059	Zinc finger, C2H2 (1);	0.054281	0.64402	D	0.000001	T	0.27313	0.0670	L	0.48174	1.505	0.50632	D	0.999884	D	0.76494	0.999	D	0.69307	0.963	T	0.00250	-1.1878	10	0.45353	T	0.12	.	18.7617	0.91855	0.0:1.0:0.0:0.0	.	180	Q9UPG8	PLAL2_HUMAN	H	180	ENSP00000246229:R180H	ENSP00000246229:R180H	R	-	2	0	PLAGL2	30248868	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.675000	0.91044	0.555000	0.69702	CGC	.		0.622	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		T	30785207	C	T	30785207	3	4	5	1	0	0	0	0	1	0	0	0	12059	768	27	1	955	1	PLAGL2	20	30785207	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	6979289	30785207	32240313	612	1073											
EPB41L1	2036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34778675	34778675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcacccttctttgagcGttcttccagcaaacggtaca	8	14	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:34778675G>A	ENST00000338074.2	+	11	1417	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	EPB41L1_ENST00000373950.2_Missense_Mutation_p.R322H|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R388H|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R357H|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R419H|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R357H	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	419					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TTCTTTGAGCGTTCTTCCAGC	0.607																																					p.R419H		.											.	EPB41L1-93	0			c.G1256A						.						60	53	55					20																	34778675		2203	4300	6503	SO:0001583	missense	2036	exon12			TTGAGCGTTCTTC	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1256G>A	20.37:g.34778675G>A	ENSP00000337168:p.Arg419His	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	56	47	NM_001258329	0	0	1	24	23	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393635	0.96009	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.48	5.48	0.80851	FERM adjacent (FA) (1);	.	.	.	.	D	0.98337	0.9448	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;0.992;1.0	D;D;D;D;P;D	0.97110	1.0;1.0;1.0;0.998;0.807;0.998	D	0.99331	1.0909	9	0.87932	D	0	.	17.9268	0.88986	0.0:0.0:1.0:0.0	.	419;419;388;322;322;357	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	H	357;322;419;322;357;388;419;419	ENSP00000202028:R357H;ENSP00000363061:R322H;ENSP00000399214:R357H;ENSP00000363057:R388H;ENSP00000337168:R419H;ENSP00000363052:R419H	ENSP00000202028:R357H	R	+	2	0	EPB41L1	34242089	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	CGT	.		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		A	34778675	G	A	34778675	3	1	5	1	0	0	0	0	1	0	0	0	5168	1145	40	1	1294	1	EPB41L1	20	34778675	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3993468	34778675	28246845	613	1074											
PLCG1	5335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	39793679	39793679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactcctcaccaagcccGtggagatctctgccgacggg	10	16	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:39793679G>A	ENST00000373271.1	+	13	1729	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	PLCG1_ENST00000373272.2_Missense_Mutation_p.V442M|PLCG1_ENST00000244007.3_Missense_Mutation_p.V442M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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)				CACCAAGCCCGTGGAGATCTC	0.572																																					p.V442M		.											.	PLCG1-911	0			c.G1324A						.						74	60	65					20																	39793679		2203	4300	6503	SO:0001583	missense	5335	exon13			AAGCCCGTGGAGA	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.1324G>A	20.37:g.39793679G>A	ENSP00000362368:p.Val442Met	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	124	57	NM_182811	0	0	5	14	9	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559740	0.86335	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.54279	0.58;0.58;0.58	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.67953	2.075	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.996	P;P;P	0.62560	0.846;0.904;0.904	T	0.72127	-0.4384	10	0.59425	D	0.04	.	18.2126	0.89876	0.0:0.0:1.0:0.0	.	442;442;442	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	M	442	ENSP00000244007:V442M;ENSP00000362368:V442M;ENSP00000362369:V442M	ENSP00000244007:V442M	V	+	1	0	PLCG1	39227093	1.000000	0.71417	0.972000	0.41901	0.914000	0.54420	9.263000	0.95617	2.539000	0.85634	0.655000	0.94253	GTG	.		0.572	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39793679	G	A	39793679	3	1	5	1	0	0	0	0	1	0	0	0	12074	1145	40	1	1374	1	PLCG1	20	39793679	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	5015004	39793679	23231841	614	1075											
CHD6	84181	broad.mit.edu	37	chr20	40074318	40074318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacaccatgcttgaacacGccaatgagaagtgacttatc	7	11	0	3	rs139410145	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:40074318G>A	ENST00000373233.3	-	25	4041	c.3864C>T	c.(3862-3864)ggC>ggT	p.G1288G	CHD6_ENST00000309279.7_Silent_p.G771G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1288					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)				GCTTGAACACGCCAATGAGAA	0.522																																					p.G1288G		.											.	CHD6-238	0			c.C3864T						.	G		0,4406		0,0,2203	130	107	115		3864	-5.6	0.9	20	dbSNP_134	115	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CHD6	NM_032221.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		1288/2716	40074318	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84181	exon25			GAACACGCCAATG	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.3864C>T	20.37:g.40074318G>A		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	126	5	NM_032221	0	0	2	2	0	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341862	0.24339	0.0	5.81E-4	ENSG00000124177	ENST00000440697	.	.	.	5.91	-5.55	0.02536	.	.	.	.	.	T	0.48607	0.1509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51116	-0.8746	4	.	.	.	-19.1586	7.7363	0.28817	0.5753:0.0:0.1641:0.2606	.	.	.	.	V	474	.	.	A	-	2	0	CHD6	39507732	0.008000	0.16893	0.940000	0.37924	0.997000	0.91878	-0.915000	0.04033	-0.709000	0.05008	0.655000	0.94253	GCG	G|1.000;A|0.000		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40074318	G	A	40074318	2	1	5	1	0	0	0	0	0	0	0	1	3336	1074	38	1		1	CHD6	20	40074318	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	280639	40074318	22951202	615	1076											
MYBL2	4605	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	42328526	42328526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagatctggacgcagtgCgaacaccagagcccttggag	13	11	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:42328526C>T	ENST00000217026.4	+	7	920	c.793C>T	c.(793-795)Cga>Tga	p.R265*	MYBL2_ENST00000396863.4_Nonsense_Mutation_p.R241*	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	265					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)			GGACGCAGTGCGAACACCAGA	0.572																																					p.R265X		.											.	MYBL2-415	0			c.C793T						.						79	64	69					20																	42328526		2203	4300	6503	SO:0001587	stop_gained	4605	exon7			GCAGTGCGAACAC		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.793C>T	20.37:g.42328526C>T	ENSP00000217026:p.Arg265*	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	141	135	NM_002466	0	0	0	0	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Nonsense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987531	0.74589	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	.	.	.	4.77	-2.65	0.06095	.	1.416890	0.04658	N	0.408355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	0.028	1.9219	0.03309	0.1274:0.433:0.1249:0.3146	.	.	.	.	X	241;265	.	ENSP00000217026:R265X	R	+	1	2	MYBL2	41761940	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	-0.203000	0.10251	-0.142000	0.14014	CGA	.		0.572	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42328526	C	T	42328526	4	4	5	1	0	0	0	0	0	1	0	0	10048	760	27	1	819	1	MYBL2	20	42328526	Nonsense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2254208	42328526	20696994	616	1077											
CTSA	5476	broad.mit.edu	37	chr20	44526395	44526395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatggagatgtagacatgGcctgcaatttcatgggggat	13	5	1	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:44526395G>A	ENST00000372459.2	+	12	1397	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	CTSA_ENST00000372484.3_Missense_Mutation_p.A420T|CTSA_ENST00000354880.5_Missense_Mutation_p.A403T|CTSA_ENST00000191018.5_Missense_Mutation_p.A402T			P10619	PPGB_HUMAN	cathepsin A	402					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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTAGACATGGCCTGCAATTT	0.502																																					p.A420T		.											.	CTSA-91	0			c.G1258A						.						113	111	111					20																	44526395		2203	4300	6503	SO:0001583	missense	5476	exon13			GACATGGCCTGCA	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.1204G>A	20.37:g.44526395G>A	ENSP00000361537:p.Ala402Thr	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	122	5	NM_000308	0	0	417	431	14	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473525	0.96274	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018	D;D;D	0.93247	-3.19;-3.19;-3.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.70716	0.97;0.923;0.953	D	0.96016	0.9005	10	0.49607	T	0.09	-30.517	19.5245	0.95199	0.0:0.0:1.0:0.0	.	402;402;419	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	T	403;420;402	ENSP00000346952:A403T;ENSP00000361562:A420T;ENSP00000191018:A402T	ENSP00000191018:A402T	A	+	1	0	CTSA	43959802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.488000	0.97947	2.608000	0.88229	0.655000	0.94253	GCC	.		0.502	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		A	44526395	G	A	44526395	3	1	5	1	0	0	0	0	1	0	0	0	4038	1203	42	3	1308	3	CTSA	20	44526395	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2197869	44526395	18499125	617	1078											
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	61522425	61522425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaacaccaaagcggccaCggctgctgaaataggagtag	11	11	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr20:61522425C>T	ENST00000266070.4	-	15	3753	c.3428G>A	c.(3427-3429)cGt>cAt	p.R1143H	DIDO1_ENST00000395335.2_Missense_Mutation_p.R1143H|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1143H|DIDO1_ENST00000395343.1_Missense_Mutation_p.R1143H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1143					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)					AAAGCGGCCACGGCTGCTGAA	0.562																																					p.R1143H	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G3428A						.						99	98	98					20																	61522425		2203	4300	6503	SO:0001583	missense	11083	exon15			CGGCCACGGCTGC	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.3428G>A	20.37:g.61522425C>T	ENSP00000266070:p.Arg1143His	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	167	9	NM_080797	0	0	2	2	0	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	35	5.559035	0.96514	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.26067	2.12;2.12;1.76;1.76	5.24	5.24	0.73138	Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.43110	D	0.000609	T	0.55226	0.1907	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59568	-0.7430	10	0.87932	D	0	-16.2475	19.1954	0.93686	0.0:1.0:0.0:0.0	.	1143;1143	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	1143	ENSP00000266070:R1143H;ENSP00000378752:R1143H;ENSP00000378749:R1143H;ENSP00000378744:R1143H	ENSP00000266070:R1143H	R	-	2	0	DIDO1	60992870	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	7.624000	0.83124	2.601000	0.87937	0.655000	0.94253	CGT	.		0.562	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61522425	C	T	61522425	3	4	5	1	0	0	0	0	1	0	0	0	4536	536	19	1	3331	1	DIDO1	20	61522425	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	16996030	61522425	1503095	618	1079											
SFRS15	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	33065781	33065781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagaaccagatctagatcGcctcctttttggtgacctaa	7	11	2	4			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:33065781G>A	ENST00000286835.7	-	12	1721	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R447*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R432*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	447						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATCTAGATCGCCTCCTTTTT	0.433																																					p.R447X		.											.	SCAF4-90	0			c.C1339T						.						84	61	69					21																	33065781		2203	4300	6503	SO:0001587	stop_gained	57466	exon12			TAGATCGCCTCCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1339C>T	21.37:g.33065781G>A	ENSP00000286835:p.Arg447*	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	72	17	NM_020706	0	0	5	5	0	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	42	9.761584	0.99257	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.2	3.08	0.35506	.	0.073052	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8166	14.9688	0.71217	0.0:0.0:0.6477:0.3523	.	.	.	.	X	432;447;447	.	ENSP00000286835:R447X	R	-	1	2	SCAF4	31987652	0.922000	0.31269	0.958000	0.39756	0.995000	0.86356	1.230000	0.32612	1.109000	0.41680	0.557000	0.71058	CGA	.		0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33065781	G	A	33065781	4	1	5	1	0	0	0	0	0	1	0	0	14216	1095	38	1	2140	1	SFRS15	21	33065781	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		33065781	15064114	619	1080											
ITSN1	6453	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	35208767	35208767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaggtgattgggatgtaCgactacaccgcgcagaatga	13	9	0	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:35208767C>T	ENST00000381318.3	+	29	3780	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	ITSN1_ENST00000399353.1_Silent_p.Y1122Y|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.Y1164Y|ITSN1_ENST00000399352.1_Silent_p.Y1159Y|ITSN1_ENST00000399349.1_Silent_p.Y1088Y|ITSN1_ENST00000399367.3_Silent_p.Y1159Y|ITSN1_ENST00000399355.2_Silent_p.Y1093Y|ITSN1_ENST00000381285.4_Silent_p.Y1164Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000437442.2_Silent_p.Y1159Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1164	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTGGGATGTACGACTACACCG	0.577																																					p.Y1164Y		.											.	ITSN1-94	0			c.C3492T						.						62	52	55					21																	35208767		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon29			GATGTACGACTAC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3492C>T	21.37:g.35208767C>T		Somatic	216	1		WXS	Illumina GAIIx	Phase_I	170	76	NM_001001132	0	0	3	5	2	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.		0.577	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		T	35208767	C	T	35208767	2	4	5	1	0	0	0	0	0	0	0	1	7953	547	19	1		1	ITSN1	21	35208767	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2142986	35208767	12921128	620	1081											
SIM2	6493	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	38098480	38098480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggacatgtccctgtacGactcctgctaccagattgtg	10	12	0	1	rs375950373		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:38098480G>A	ENST00000290399.6	+	6	1217	c.604G>A	c.(604-606)Gac>Aac	p.D202N	SIM2_ENST00000430056.3_Missense_Mutation_p.D202N	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	202					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						GTCCCTGTACGACTCCTGCTA	0.577																																					p.D202N		.											.	SIM2-90	0			c.G604A						.	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	130	119	123		604,604	5.4	1	21		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SIM2	NM_005069.3,NM_009586.2	23,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	202/668,202/571	38098480	2,13004	2203	4300	6503	SO:0001583	missense	6493	exon6			CTGTACGACTCCT		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.604G>A	21.37:g.38098480G>A	ENSP00000290399:p.Asp202Asn	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	117	9	NM_005069	0	0	0	0	0	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461033|4.461033	0.84317|0.84317	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.71579|.	-0.58;-0.58|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.143963|.	0.64402|.	D|.	0.000008|.	T|T	0.71863|0.71863	0.3390|0.3390	L|L	0.54323|0.54323	1.7|1.7	0.46901|0.46901	D|D	0.999244|0.999244	D;D|.	0.76494|.	0.999;0.998|.	P;P|.	0.61874|.	0.895;0.883|.	T|T	0.67795|0.67795	-0.5578|-0.5578	10|5	0.62326|.	D|.	0.03|.	.|.	19.6391|19.6391	0.95749|0.95749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	N|Q	202|139	ENSP00000290399:D202N;ENSP00000404176:D202N|.	ENSP00000290399:D202N|.	D|R	+|+	1|2	0|0	SIM2|SIM2	37020350|37020350	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	9.231000|9.231000	0.95317|0.95317	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAC|CGA	.		0.577	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38098480	G	A	38098480	3	1	5	1	0	0	0	0	1	0	0	0	14369	1058	37	1	626	1	SIM2	21	38098480	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	2889713	38098480	10031415	621	1082											
DSCR6	53820	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	38390297	38390297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctactgagtctgcttcCgaagctgaagagccagagga	13	9	2	4	rs138756839	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:38390297C>T	ENST00000329553.2	+	4	573	c.363C>T	c.(361-363)tcC>tcT	p.S121S	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	121					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AGTCTGCTTCCGAAGCTGAAG	0.587													C|||	2	0.000399361	0	0.0014	5008	,	,		17142	0		0.001	False		,,,				2504	0				p.S121S		.											.	DSCR6-153	0			c.C363T						.	C		2,4404	4.2+/-10.8	0,2,2201	44	42	43		363	-9.5	0	21	dbSNP_134	43	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	DSCR6	NM_018962.2		0,19,6484	TT,TC,CC		0.1977,0.0454,0.1461		121/191	38390297	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	53820	exon4			TGCTTCCGAAGCT	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.363C>T	21.37:g.38390297C>T		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	43	36	NM_018962	0	0	0	0	0		Silent	SNP	ENST00000329553.2	37	CCDS13648.1																																																																																			C|0.999;T|0.001		0.587	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			T	38390297	C	T	38390297	2	4	5	1	0	0	0	0	0	0	0	1	4787	639	23	1		1	DSCR6	21	38390297	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	291817	38390297	9739598	622	1083											
BRWD1	54014	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	40667746	40667746	+	Frame_Shift_Del	DEL	T	T	-													tccgagaatccttctgtgcaTttttatatgctgatacatag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:40667746delT	ENST00000333229.2	-	7	859	c.532delA	c.(532-534)atgfs	p.M178fs	BRWD1_ENST00000380800.3_Frame_Shift_Del_p.M178fs|BRWD1_ENST00000342449.3_Frame_Shift_Del_p.M178fs|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	178					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)				CTTCTGTGCATTTTTATATGC	0.358																																					p.M178fs	Melanoma(170;988 1986 4794 16843 39731)	.											.	BRWD1-94	0			c.532delA						.						126	121	122					21																	40667746		2203	4300	6503	SO:0001589	frameshift_variant	54014	exon7			TGTGCATTTTTAT	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.532delA	21.37:g.40667746delT	ENSP00000330753:p.Met178fs	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	93	83	NM_018963	0	0	0	0	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	ENST00000333229.2	37	CCDS13662.1																																																																																			.		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		-	40667746	T	-	40667746	7	5	5	1	0	1	0	1	0	0	0	0	1529	1493	52	0	6813	0	BRWD1	21	40667746	Frame_Shift_Del	DEL	T	TCGA-OR-A5J5-01A-11D-A29I-10	2277449	40667746	7462149	623	1084											
B3GALT5	10317	ucsc.edu;bcgsc.ca	37	chr21	41033159	41033159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgtgttttctggcgacGtggcgagtcaggtgtacaat	14	8	2	0	rs144752439		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:41033159G>A	ENST00000380620.4	+	5	1265	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	B3GALT5_ENST00000380618.1_Missense_Mutation_p.V225M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V225M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V225M|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	225					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TTCTGGCGACGTGGCGAGTCA	0.522																																					p.V225M		.											.	B3GALT5-91	0			c.G673A						.	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86	85	86		673,673,673,673,673	3.3	0.1	21	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	21,21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/311,225/311,225/311,225/311,225/311	41033159	1,13005	2203	4300	6503	SO:0001583	missense	10317	exon3			GGCGACGTGGCGA	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.673G>A	21.37:g.41033159G>A	ENSP00000369994:p.Val225Met	Somatic	74	2		WXS	Illumina GAIIx	Phase_I	67	59	NM_033170	0	0	0	0	0	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947287	0.34377	2.27E-4	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.49	3.35	0.38373	.	0.114937	0.36555	N	0.002538	T	0.61073	0.2318	M	0.72576	2.205	0.42482	D	0.992867	D	0.89917	1.0	D	0.76071	0.987	T	0.65639	-0.6119	10	0.59425	D	0.04	.	12.7459	0.57281	0.1557:0.0:0.8443:0.0	.	225	Q9Y2C3	B3GT5_HUMAN	M	225	ENSP00000369994:V225M;ENSP00000369992:V225M;ENSP00000343318:V225M;ENSP00000381699:V225M	ENSP00000343318:V225M	V	+	1	0	B3GALT5	39955029	0.643000	0.27269	0.114000	0.21550	0.059000	0.15707	0.976000	0.29462	1.324000	0.45282	0.655000	0.94253	GTG	G|1.000;A|0.000		0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		A	41033159	G	A	41033159	3	1	5	1	0	0	0	0	1	0	0	0	1251	1145	40	1	675	1	B3GALT5	21	41033159	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	365413	41033159	7096736	624	1085											
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45736189	45736189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgccattgaccgcaaCgggaagcccatctcgtccag	13	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:45736189C>T	ENST00000349048.4	+	8	865	c.810C>T	c.(808-810)aaC>aaT	p.N270N	PFKL_ENST00000403390.1_Silent_p.N317N|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	270	N-terminal catalytic PFK domain 1.				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)		TTGACCGCAACGGGAAGCCCA	0.647																																					p.N270N		.											.	PFKL-251	0			c.C810T						.						142	105	118					21																	45736189		2203	4300	6503	SO:0001819	synonymous_variant	5211	exon8			CCGCAACGGGAAG		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.810C>T	21.37:g.45736189C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	189	65	NM_002626	0	0	9	12	3	Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	CCDS33582.1																																																																																			.		0.647	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45736189	C	T	45736189	2	4	5	1	0	0	0	0	0	0	0	1	11803	535	19	1		1	PFKL	21	45736189	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	4703030	45736189	2393706	625	1086											
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45744758	45744758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaacgtggagcacatgaCggagaagatgaagacagaca	14	7	1	6			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:45744758C>T	ENST00000349048.4	+	18	1890	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	PFKL_ENST00000403390.1_Missense_Mutation_p.T659M	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	612	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)		GAGCACATGACGGAGAAGATG	0.672																																					p.T612M		.											.	PFKL-251	0			c.C1835T						.						39	34	36					21																	45744758		2193	4297	6490	SO:0001583	missense	5211	exon18			ACATGACGGAGAA		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.1835C>T	21.37:g.45744758C>T	ENSP00000269848:p.Thr612Met	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	143	83	NM_002626	0	0	30	46	16	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588016	0.46110	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.76839	-1.05;-1.05	5.04	3.23	0.37069	Phosphofructokinase domain (2);	0.055780	0.64402	D	0.000001	T	0.80407	0.4617	L	0.57130	1.785	0.47407	D	0.999417	D;D	0.57571	0.971;0.98	P;P	0.56960	0.75;0.81	T	0.76293	-0.3012	10	0.33141	T	0.24	-25.0441	10.0001	0.41924	0.0:0.8317:0.0:0.1683	.	612;659	P17858;P17858-2	K6PL_HUMAN;.	M	612;405;659	ENSP00000269848:T612M;ENSP00000384038:T659M	ENSP00000269848:T612M	T	+	2	0	PFKL	44569186	1.000000	0.71417	0.580000	0.28601	0.924000	0.55760	4.520000	0.60524	0.535000	0.28714	0.591000	0.81541	ACG	.		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45744758	C	T	45744758	3	4	5	1	0	0	0	0	1	0	0	0	11803	536	19	1	1905	1	PFKL	21	45744758	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	8569	45744758	2385137	626	1087											
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	46900432	46900432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgatctggaggccctgCgggtgagtggcccttaaact	17	10	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:46900432C>T	ENST00000359759.4	+	11	2716	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	COL18A1_ENST00000400337.2_Missense_Mutation_p.R484W|COL18A1_ENST00000355480.5_Missense_Mutation_p.R664W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	899	Nonhelical region 3 (NC3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGGCCCTGCGGGTGAGTGG	0.642																																					p.R664W		.											.	COL18A1-90	0			c.C1990T						.						46	54	51					21																	46900432		2045	4168	6213	SO:0001583	missense	80781	exon11			GCCCTGCGGGTGA		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.2695C>T	21.37:g.46900432C>T	ENSP00000352798:p.Arg899Trp	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	50	5	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	C	12.39	1.924218	0.34002	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.91686	-2.87;-2.89;-2.77	3.8	1.74	0.24563	.	0.339373	0.25729	N	0.028682	D	0.94358	0.8186	M	0.84082	2.675	0.31515	N	0.663066	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.60286	0.749;0.872;0.796	D	0.92404	0.5932	10	0.72032	D	0.01	.	8.5985	0.33729	0.5497:0.4503:0.0:0.0	.	899;664;484	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	W	484;484;664;899;899	ENSP00000383191:R484W;ENSP00000347665:R664W;ENSP00000352798:R899W	ENSP00000347665:R664W	R	+	1	2	COL18A1	45724860	0.884000	0.30299	0.093000	0.20910	0.285000	0.27093	1.466000	0.35310	0.133000	0.18654	0.555000	0.69702	CGG	.		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46900432	C	T	46900432	3	4	5	1	0	0	0	0	1	0	0	0	3682	759	27	1	2851	1	COL18A1	21	46900432	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1155674	46900432	1229463	627	1088											
PRMT2	3275	broad.mit.edu;bcgsc.ca	37	chr21	48068519	48068519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctgtgcacactatgcGcggcctagagcggtgagtgg	14	11	2	2	rs150978784	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr21:48068519G>A	ENST00000397637.1	+	5	1431	c.477G>A	c.(475-477)gcG>gcA	p.A159A	PRMT2_ENST00000397638.2_Silent_p.A159A|PRMT2_ENST00000440086.1_Silent_p.A159A|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.A159A|PRMT2_ENST00000355680.3_Silent_p.A159A|PRMT2_ENST00000458387.2_Silent_p.A159A|PRMT2_ENST00000451211.2_Silent_p.A159A|PRMT2_ENST00000397628.1_Silent_p.A159A|PRMT2_ENST00000291705.6_Silent_p.A159A			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	159	Interaction with ESR1.|Interaction with RB1. {ECO:0000250}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CACACTATGCGCGGCCTAGAG	0.577													G|||	4	0.000798722	0	0	5008	,	,		19489	0.003		0	False		,,,				2504	0.001				p.A159A		.											.	PRMT2-91	0			c.G477A						.						142	128	133					21																	48068519		2203	4300	6503	SO:0001819	synonymous_variant	3275	exon5			CTATGCGCGGCCT	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.477G>A	21.37:g.48068519G>A		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	90	5	NM_001242864	0	0	16	18	2	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	CCDS13737.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.359	0.624467	0.14193	.	.	ENSG00000160310	ENST00000379844;ENST00000455177	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51020	-0.8758	5	0.40728	T	0.16	-9.6393	1.0132	0.01502	0.1621:0.1897:0.2476:0.4007	.	.	.	.	H	45;99	.	ENSP00000369173:R45H	R	+	2	0	PRMT2	46892947	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	-1.909000	0.01586	-2.373000	0.00600	-1.813000	0.00610	CGC	G|0.999;A|0.001		0.577	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		A	48068519	G	A	48068519	2	1	5	1	0	0	0	0	0	0	0	1	12579	1074	38	1		1	PRMT2	21	48068519	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1168087	48068519	61376	628	1089											
CECR5	27440	hgsc.bcm.edu	37	chr22	17640022	17640022	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggacgtcctcacctgagcGgggcccacagcatagcacct	11	17	1	1	rs11550530	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:17640022G>C	ENST00000336737.4	-	1	145	c.120C>G	c.(118-120)ccC>ccG	p.P40P	CECR5-AS1_ENST00000431923.1_RNA|CECR5_ENST00000155674.5_Intron|CECR5_ENST00000399852.3_Silent_p.P40P|CECR5-AS1_ENST00000329743.3_RNA|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	40						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCACCTGAGCGGGGCCCACAG	0.791													G|||	523	0.104433	0.1248	0.1297	5008	,	,		6009	0.123		0.0865	False		,,,				2504	0.0583				p.P40P		.											.	CECR5-514	0			c.C120G						.	G	,	187,2477		4,179,1149	2	3	3		,120	-4.2	0	22	dbSNP_134	3	289,5621		4,281,2670	no	intron,coding-synonymous	CECR5	NM_017829.5,NM_033070.2	,	8,460,3819	CC,CG,GG		4.89,7.0195,5.5517	,	,40/424	17640022	476,8098	1332	2955	4287	SO:0001819	synonymous_variant	27440	exon1			CTGAGCGGGGCCC	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.120C>G	22.37:g.17640022G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_033070	0	0	0	0	0	B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	CCDS33595.1																																																																																			.		0.791	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		C	17640022	G	C	17640022	2	2	5	1	0	0	0	0	0	0	0	1	3214	1103	39	2		2	CECR5	22	17640022	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10		17640022	33664544	629	1090											
PRODH	8214	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	18900804	18900804	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttctccagggcacggcGggacaagtagggcagcacct	15	12	1	0	rs370393004		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:18900804G>A	ENST00000331444.6	+	0	1214				PRODH_ENST00000334029.2_Missense_Mutation_p.R455C|PRODH_ENST00000357068.6_Missense_Mutation_p.R563C|PRODH_ENST00000420436.1_Missense_Mutation_p.R455C	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						AGGGCACGGCGGGACAAGTAG	0.647																																					p.R563C		.											.	PRODH-289	0			c.C1687T						.	G	CYS/ARG,CYS/ARG	0,4372		0,0,2186	27	26	27		1363,1687	4.4	1	22		27	1,8557		0,1,4278	no	missense,missense	PRODH	NM_001195226.1,NM_016335.4	180,180	0,1,6464	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	455/493,563/601	18900804	1,12929	2186	4279	6465	SO:0001628	intergenic_variant	5625	exon15			CACGGCGGGACAA	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162		22.37:g.18900804G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	187	10	NM_016335	0	0	1	1	0	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	25.1	4.605306	0.87157	0.0	1.17E-4	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.79554	-1.28	4.43	4.43	0.53597	Proline dehydrogenase (1);	0.125962	0.51477	D	0.000089	D	0.92414	0.7592	H	0.97682	4.055	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	0.93642	0.6965	10	0.87932	D	0	-38.2515	10.2254	0.43222	0.0:0.0:0.8015:0.1985	.	479;563;455	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	C	563;208	ENSP00000349577:R563C	ENSP00000318329:R208C	R	-	1	0	PRODH	17280804	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.872000	0.48467	2.196000	0.70406	0.505000	0.49811	CGC	.		0.647	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		A	18900804	G	A	18900804	1	1	5	0	1	0	0	0	0	0	0	0	12590	1116	39	1		1	PRODH	22	18900804	IGR	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1260782	18900804	32403762	630	1091											
MN1	4330	hgsc.bcm.edu	37	chr22	28194988	28194988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactggtggtccggggccGgatgctgcaggggcggcccc	21	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:28194988G>A	ENST00000302326.4	-	1	2498	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	515					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCCGGGGCCGGATGCTGCAG	0.657			T	ETV6	"AML, meningioma"																																p.P515L		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.C1544T						.						7	9	8					22																	28194988		2047	4140	6187	SO:0001583	missense	4330	exon1			GGGGCCGGATGCT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1544C>T	22.37:g.28194988G>A	ENSP00000304956:p.Pro515Leu	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	103	6	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194541	0.58017	.	.	ENSG00000169184	ENST00000302326	T	0.54071	0.59	4.78	4.78	0.61160	.	0.063358	0.64402	D	0.000005	T	0.48205	0.1487	N	0.24115	0.695	0.49915	D	0.999839	D	0.59767	0.986	P	0.51170	0.661	T	0.52510	-0.8566	10	0.59425	D	0.04	-13.3403	13.1229	0.59338	0.0:0.162:0.838:0.0	.	515	Q10571	MN1_HUMAN	L	515	ENSP00000304956:P515L	ENSP00000304956:P515L	P	-	2	0	MN1	26524988	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.511000	0.53400	2.192000	0.70111	0.313000	0.20887	CCG	.		0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28194988	G	A	28194988	3	1	5	1	0	0	0	0	1	0	0	0	9711	1116	39	1	2426	1	MN1	22	28194988	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	9294184	28194988	23109578	631	1092											
ZNRF3	84133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29444383	29444383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctgcccaggagctgCgggtcatcccctgtactcac	9	18	3	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:29444383C>T	ENST00000544604.2	+	7	1094	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R207W|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R207W|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R207W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	307					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)	p.R207W(1)		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						CCAGGAGCTGCGGGTCATCCC	0.602																																					p.R307W		.											.	ZNRF3-69	1	Substitution - Missense(1)	endometrium(1)	c.C919T						.						72	87	82					22																	29444383		2143	4240	6383	SO:0001583	missense	84133	exon7			GAGCTGCGGGTCA	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.919C>T	22.37:g.29444383C>T	ENSP00000443824:p.Arg307Trp	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	161	145	NM_001206998	0	0	0	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237510	0.79800	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.45	4.37	0.52481	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.051912	0.64402	D	0.000001	D	0.84252	0.5431	M	0.93016	3.37	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	D	0.87312	0.2312	10	0.87932	D	0	-14.9642	12.176	0.54186	0.2935:0.7064:0.0:0.0	.	307	Q9ULT6	ZNRF3_HUMAN	W	307;207;207;207	ENSP00000443824:R307W;ENSP00000328614:R207W;ENSP00000384456:R207W;ENSP00000384553:R207W	ENSP00000328614:R207W	R	+	1	2	ZNRF3	27774383	1.000000	0.71417	0.994000	0.49952	0.917000	0.54804	3.383000	0.52471	2.550000	0.86006	0.650000	0.86243	CGG	.		0.602	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		T	29444383	C	T	29444383	3	4	5	1	0	0	0	0	1	0	0	0	18261	759	27	1	641	1	ZNRF3	22	29444383	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1249395	29444383	21860183	632	1093											
SLC35E4	339665	hgsc.bcm.edu	37	chr22	31032952	31032952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatgggtccgctctgccTgggggccgcctgcagcctgg	16	16	1	0	rs150781327	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:31032952T>G	ENST00000343605.4	+	1	1314	c.515T>G	c.(514-516)cTg>cGg	p.L172R	SLC35E4_ENST00000300385.8_Missense_Mutation_p.L172R|SLC35E4_ENST00000406566.1_Missense_Mutation_p.L172R	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	172	EamA.|Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCGCTCTGCCTGGGGGCCGCC	0.687													T|||	5	0.000998403	8e-04	0	5008	,	,		14941	0		0.004	False		,,,				2504	0				p.L172R		.											.	SLC35E4-90	0			c.T515G						.	T	ARG/LEU	5,4399		0,5,2197	23	21	22		515	5.2	1	22	dbSNP_134	22	58,8538		0,58,4240	no	missense	SLC35E4	NM_001001479.2	102	0,63,6437	GG,GT,TT		0.6747,0.1135,0.4846	probably-damaging	172/351	31032952	63,12937	2202	4298	6500	SO:0001583	missense	339665	exon1			TCTGCCTGGGGGC		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.515T>G	22.37:g.31032952T>G	ENSP00000339626:p.Leu172Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	17	NM_001001479	0	0	0	4	4	Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441196	0.83993	0.001135	0.006747	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.000000	0.64402	D	0.000001	T	0.60235	0.2253	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64028	-0.6503	10	0.37606	T	0.19	-12.1879	14.0058	0.64463	0.0:0.0:0.0:1.0	.	172;172	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	R	172;172;172;148	ENSP00000339626:L172R;ENSP00000300385:L172R;ENSP00000384377:L172R;ENSP00000413552:L148R	ENSP00000300385:L172R	L	+	2	0	SLC35E4	29362952	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.506000	0.66993	1.950000	0.56595	0.448000	0.29417	CTG	T|0.995;G|0.005		0.687	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		G	31032952	T	G	31032952	3	3	5	1	0	0	0	0	1	0	0	0	14632	1580	55	5	517	5	SLC35E4	22	31032952	Missense_Mutation	SNP	T	TCGA-OR-A5J5-01A-11D-A29I-10	1588569	31032952	20271614	633	1094											
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	37466579	37466579	+	Frame_Shift_Del	DEL	C	C	-													ccagcggtcagcgatgagggCccccccacagatgtgtcgac					rs368004115		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:37466579delC	ENST00000346753.3	-	15	1929	c.1813delG	c.(1813-1815)gccfs	p.A605fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.A596fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.A596fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.A596fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	605	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCGATGAGGGCCCCCCCACAG	0.657																																					p.A605fs		.											.	TMPRSS6-292	0			c.1813delG	GRCh37	CD082210	TMPRSS6	D		.						58	60	59					22																	37466579		2203	4300	6503	SO:0001589	frameshift_variant	164656	exon15			TGAGGGCCCCCCC	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.1813delG	22.37:g.37466579delC	ENSP00000334962:p.Ala605fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	135	112	NM_153609	0	0	0	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	CCDS13941.1																																																																																			.		0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		-	37466579	C	-	37466579	7	5	5	1	0	1	0	1	0	0	0	0	16298	739	26	0	638	0	TMPRSS6	22	37466579	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	6433627	37466579	13837987	634	1095											
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	39966861	39966861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccccccatcctcccCgccaggcctggaggagcctc	11	21	0	0	rs372403873		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:39966861C>T	ENST00000402142.3	+	1	104	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CACNA1I_ENST00000401624.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P35L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P35L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P35L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	35					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)	CCATCCTCCCCGCCAGGCCTG	0.692																																					p.P35L		.											.	CACNA1I-135	0			c.C104T						.	C	LEU/PRO,LEU/PRO	0,4010		0,0,2005	28	35	33		104,104	5.3	0.6	22		33	1,8335		0,1,4167	no	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	98,98	0,1,6172	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	35/2189,35/2224	39966861	1,12345	2005	4168	6173	SO:0001583	missense	8911	exon1			CCTCCCCGCCAGG	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.104C>T	22.37:g.39966861C>T	ENSP00000385019:p.Pro35Leu	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	74	7	NM_001003406	0	0	1	1	0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293546	0.60086	0.0	1.2E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96885	-4.16;-4.12;-4.16;-4.12;-4.15;-4.06	5.27	5.27	0.74061	.	0.911528	0.09040	N	0.857428	D	0.94850	0.8336	N	0.08118	0	0.52099	D	0.99994	D;D	0.67145	0.996;0.993	P;P	0.54100	0.742;0.557	D	0.93167	0.6563	10	0.62326	D	0.03	.	19.2321	0.93843	0.0:1.0:0.0:0.0	.	35;35	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	L	35	ENSP00000385019:P35L;ENSP00000384093:P35L;ENSP00000383887:P35L;ENSP00000385680:P35L;ENSP00000337829:P35L;ENSP00000383028:P35L	ENSP00000337829:P35L	P	+	2	0	CACNA1I	38296807	0.951000	0.32395	0.619000	0.29118	0.071000	0.16799	3.498000	0.53302	2.633000	0.89246	0.561000	0.74099	CCG	.		0.692	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	39966861	C	T	39966861	3	4	5	1	0	0	0	0	1	0	0	0	2553	652	23	1	106	1	CACNA1I	22	39966861	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	2500282	39966861	11337705	635	1096											
TNRC6B	23112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	40661638	40661638	+	Frame_Shift_Del	DEL	A	A	-													gttcagaaatcaactgggtcAaaaaatgactcttgggacaa							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:40661638delA	ENST00000454349.2	+	5	1615	c.1404delA	c.(1402-1404)tcafs	p.S468fs	TNRC6B_ENST00000335727.9_Frame_Shift_Del_p.S468fs|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	468	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CAACTGGGTCAAAAAATGACT	0.458																																					p.S468fs		.											.	TNRC6B-22	0			c.1404delA						.						37	38	38					22																	40661638		1844	4087	5931	SO:0001589	frameshift_variant	23112	exon5			TGGGTCAAAAAAT	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1404delA	22.37:g.40661638delA	ENSP00000401946:p.Ser468fs	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	55	45	NM_001162501	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Del	DEL	ENST00000454349.2	37	CCDS54533.1																																																																																			.		0.458	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				-	40661638	A	-	40661638	7	5	5	1	0	1	0	1	0	0	0	0	16388	117	5	0	1543	0	TNRC6B	22	40661638	Frame_Shift_Del	DEL	A	TCGA-OR-A5J5-01A-11D-A29I-10	694777	40661638	10642928	636	1097											
FBLN1	2192	bcgsc.ca	37	chr22	45959041	45959041	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaccaagcctgtcccCgagcccagggacttgctcct	9	19	1	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chr22:45959041C>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Silent_p.P687P|FBLN1_ENST00000262722.7_Silent_p.P649P	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCCTGTCCCCGAGCCCAGGG	0.617																																					p.P649P		.											.	FBLN1-515	0			c.C1947T						.						64	65	65					22																	45959041		2203	4300	6503	SO:0001627	intron_variant	2192	exon15			TGTCCCCGAGCCC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11350C>T	22.37:g.45959041C>T		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	162	6	NM_001996	0	0	13	14	1	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																			.		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		T	45959041	C	T	45959041	1	4	5	0	1	0	0	0	0	0	0	0	5720	639	23	1		1	FBLN1	22	45959041	Intron	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	5297403	45959041	5345525	637	1098											
ASMTL	8623	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	1522202	1522202	+	Frame_Shift_Del	DEL	C	C	-													ccaagatggcatccaggacaCcccccaagtgcaccacctgc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:1522202delC	ENST00000381317.3	-	13	1858	c.1826delG	c.(1825-1827)ggtfs	p.G609fs	ASMTL-AS1_ENST00000443929.1_RNA|ASMTL_ENST00000416733.2_Frame_Shift_Del_p.G533fs|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000534940.1_Frame_Shift_Del_p.G551fs|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000381333.4_Frame_Shift_Del_p.G593fs|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	609	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCAGGACACCCCCCAAGTG	0.627																																					p.G609fs		.											.	ASMTL-62	0			c.1826delG						.						69	79	76					X																	1522202		2038	4167	6205	SO:0001589	frameshift_variant	8623	exon13			AGGACACCCCCCA	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1826delG	X.37:g.1522202delC	ENSP00000370718:p.Gly609fs	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	292	125	NM_004192	0	0	0	0	0	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Frame_Shift_Del	DEL	ENST00000381317.3	37	CCDS43917.1																																																																																			.		0.627	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		-	1522202	C	-	1522202	7	5	5	1	0	1	0	1	0	0	0	0	1047	507	18	0	43	0	ASMTL	23	1522202	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10		1522202	153748358	638	1099											
DHRSX	207063	bcgsc.ca	37	chrX	2184933	2184933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccctaggtagttcaggccGaaatgttcttcgaatccatc	9	11	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:2184933G>A	ENST00000334651.5	-	5	496	c.444C>T	c.(442-444)ttC>ttT	p.F148F	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	148							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				AGTTCAGGCCGAAATGTTCTT	0.527													.|||	1	0.000199681	0	0	5008	,	,		20650	0.001		0	False		,,,				2504	0				p.F148F		.											.	.	0			c.C444T						.			0,4406		0,0,2203	403	356	372		444	-0.2	0.9	X		372	1,8591		0,1,4295	no	coding-synonymous	DHRSX	NM_145177.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		148/331	2184933	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	207063	exon5			CAGGCCGAAATGT	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.444C>T	X.37:g.2184933G>A		Somatic	993	5		WXS	Illumina GAIIx	Phase_I	1480	658	NM_145177	0	0	20	34	14	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	CCDS35195.1																																																																																			G|0.999;A|0.001		0.527	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		A	2184933	G	A	2184933	2	1	5	1	0	0	0	0	0	0	0	1	4513	1049	37	1		1	DHRSX	23	2184933	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	662731	2184933	153085627	639	1100											
ARSD	414	broad.mit.edu	37	chrX	2825437	2825437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacaggactcagggtctGccgatgctccgacaccgcgg	15	14	2	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:2825437G>A	ENST00000381154.1	-	10	1732	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	553					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)				CTCAGGGTCTGCCGATGCTCC	0.647																																					p.Q553X		.											.	ARSD-130	0			c.C1657T						.						38	34	35					X																	2825437		2203	4300	6503	SO:0001587	stop_gained	414	exon10			GGGTCTGCCGATG	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.1657C>T	X.37:g.2825437G>A	ENSP00000370546:p.Gln553*	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	224	9	NM_001669	0	0	1	1	0	Q9UHJ8	Nonsense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579725	0.65992	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.03	-4.89	0.03103	.	1.802540	0.03432	U	0.207934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	6.5517	0.22438	0.0:0.1145:0.3055:0.58	.	.	.	.	X	553	.	ENSP00000370546:Q553X	Q	-	1	0	ARSD	2835437	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.962000	0.03841	-1.235000	0.02545	-0.362000	0.07510	CAG	.		0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2825437	G	A	2825437	4	1	5	1	0	0	0	0	0	1	0	0	990	1328	46	3	128	3	ARSD	23	2825437	Nonsense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	640504	2825437	152445123	640	1101											
TBL1X	6907	ucsc.edu;bcgsc.ca	37	chrX	9673126	9673126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggctcggctgtgaccGcccagtcaaaaccttccagg	12	14	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:9673126G>A	ENST00000217964.7	+	13	1848	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	TBL1X_ENST00000424279.1_Missense_Mutation_p.R352H|TBL1X_ENST00000407597.2_Missense_Mutation_p.R403H|TBL1X_ENST00000536365.1_Missense_Mutation_p.R352H|TBL1X_ENST00000380961.1_Missense_Mutation_p.R352H	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	403					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GGCTGTGACCGCCCAGTCAAA	0.537																																					p.R403H		.											.	TBL1X-131	0			c.G1208A						.						157	94	116					X																	9673126		2203	4300	6503	SO:0001583	missense	6907	exon13			GTGACCGCCCAGT	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1208G>A	X.37:g.9673126G>A	ENSP00000217964:p.Arg403His	Somatic	306	4		WXS	Illumina GAIIx	Phase_I	426	388	NM_001139466	0	0	0	2	2	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397616	0.62177	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.85	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.48767	U	0.000168	T	0.75317	0.3833	L	0.39147	1.195	0.80722	D	1	B;B	0.19583	0.031;0.037	B;B	0.24848	0.035;0.056	T	0.74674	-0.3586	10	0.59425	D	0.04	.	15.7298	0.77792	0.0:0.0:1.0:0.0	.	366;403	Q59F53;O60907	.;TBL1X_HUMAN	H	403;352;352;352;403	ENSP00000385988:R403H;ENSP00000394097:R352H;ENSP00000445317:R352H;ENSP00000370348:R352H;ENSP00000217964:R403H	ENSP00000217964:R403H	R	+	2	0	TBL1X	9633126	1.000000	0.71417	0.982000	0.44146	0.926000	0.56050	7.414000	0.80117	1.694000	0.51137	0.529000	0.55759	CGC	.		0.537	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		A	9673126	G	A	9673126	3	1	5	1	0	0	0	0	1	0	0	0	15686	1087	38	1	1246	1	TBL1X	23	9673126	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	6847689	9673126	145597434	641	1102											
USP9X	8239	hgsc.bcm.edu;broad.mit.edu	37	chrX	40982957	40982957	+	Frame_Shift_Del	DEL	C	C	-													ctcctgatggacagtctcagCcccccctccaacagaatcag							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:40982957delC	ENST00000324545.8	+	2	709	c.76delC	c.(76-78)cccfs	p.P27fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.P27fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	27					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						ACAGTCTCAGCCCCCCCTCCA	0.542																																					p.P26fs	Ovarian(172;1807 2695 35459 49286)	.											.	USP9X-563	0			c.76delC						.						58	56	57					X																	40982957		2026	4198	6224	SO:0001589	frameshift_variant	8239	exon2			TCTCAGCCCCCCC	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.76delC	X.37:g.40982957delC	ENSP00000316357:p.Pro27fs	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	242	13	NM_001039591	0	0	0	0	0	O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	CCDS43930.1																																																																																			.		0.542	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		-	40982957	C	-	40982957	7	5	5	1	0	1	0	1	0	0	0	0	17139	739	26	0	78	0	USP9X	23	40982957	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	31309831	40982957	114287603	642	1103											
CCDC120	90060	hgsc.bcm.edu	37	chrX	48921959	48921959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagcagatcgcggcggCcgcccgccgcctggccttgg	15	17	0	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:48921959C>T	ENST00000376396.3	+	6	602	c.383C>T	c.(382-384)gCc>gTc	p.A128V	CCDC120_ENST00000422185.2_Missense_Mutation_p.A128V|CCDC120_ENST00000496529.2_Missense_Mutation_p.A128V|CCDC120_ENST00000597275.1_Missense_Mutation_p.A128V|CCDC120_ENST00000603986.1_Missense_Mutation_p.A163V|CCDC120_ENST00000536628.2_Missense_Mutation_p.A116V	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	128										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ATCGCGGCGGCCGCCCGCCGC	0.672																																					p.A163V		.											.	CCDC120-131	0			c.C488T						.						4	5	5					X																	48921959		2084	4002	6086	SO:0001583	missense	90060	exon6			CGGCGGCCGCCCG	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.383C>T	X.37:g.48921959C>T	ENSP00000365577:p.Ala128Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	18	NM_001163321	0	0	0	0	0	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021191	0.75275	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.81	4.81	0.61882	.	0.000000	0.52532	D	0.000075	T	0.76485	0.3994	M	0.66439	2.03	0.39690	D	0.971024	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.989;0.994;0.994;0.989	T	0.80674	-0.1277	9	0.87932	D	0	-6.119	13.9885	0.64350	0.0:1.0:0.0:0.0	.	116;163;116;128	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	V	128;128;116	.	ENSP00000365577:A128V	A	+	2	0	CCDC120	48808903	0.998000	0.40836	0.512000	0.27736	0.317000	0.28152	4.652000	0.61454	1.989000	0.58080	0.468000	0.43344	GCC	.		0.672	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		T	48921959	C	T	48921959	3	4	5	1	0	0	0	0	1	0	0	0	2763	739	26	3	397	3	CCDC120	23	48921959	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	7939002	48921959	106348601	643	1104											
CCDC120	90060	hgsc.bcm.edu	37	chrX	48925015	48925015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccagaccctccccgggcCgcccggcctagctcagctgc	10	23	1	1	rs374295188		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:48925015C>T	ENST00000376396.3	+	10	1479	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	CCDC120_ENST00000422185.2_Silent_p.A420A|CCDC120_ENST00000496529.2_Silent_p.A420A|CCDC120_ENST00000597275.1_Silent_p.A420A|CCDC120_ENST00000603986.1_Silent_p.A455A|CCDC120_ENST00000536628.2_Silent_p.A408A	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	420	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CTCCCCGGGCCGCCCGGCCTA	0.697																																					p.A455A		.											.	CCDC120-131	0			c.C1365T						.	C	,,,	0,3768		0,0,0,1605,558	9	10	9		1260,1224,1224,1260	1.2	1	X		9	1,6611		0,0,1,2403,1805	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	,,,	0,0,1,4008,2363	TT,TC,T,CC,C		0.0151,0.0,0.0096	,,,	420/662,408/650,408/619,420/631	48925015	1,10379	2163	4209	6372	SO:0001819	synonymous_variant	90060	exon10			CCGGGCCGCCCGG	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1260C>T	X.37:g.48925015C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	21	NM_001163321	0	0	0	3	3	B4DFC1|B4DTU2|F5GZU4	Silent	SNP	ENST00000376396.3	37	CCDS14316.1																																																																																			.		0.697	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		T	48925015	C	T	48925015	2	4	5	1	0	0	0	0	0	0	0	1	2763	639	23	1		1	CCDC120	23	48925015	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3056	48925015	106345545	644	1105											
AKAP4	8852	bcgsc.ca	37	chrX	49955729	49955729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctcctacactgtaccccttCtctgctgctttagctgaaac	5	16	1	1	rs78668179	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:49955729C>T	ENST00000376056.2	-	6	2562	c.2412G>A	c.(2410-2412)gaG>gaA	p.E804E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.E430E|AKAP4_ENST00000358526.2_Silent_p.E813E|AKAP4_ENST00000376064.3_Silent_p.E804E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTACCCCTTCTCTGCTGCTT	0.502													C|||	125	0.0331126	0.0908	0.0072	3775	,	,		13318	0		0	False		,,,				2504	0				p.E813E		.											.	AKAP4-540	0			c.G2439A						.	C	,	419,3416		22,311,64,1299,507	177	152	160		2439,2412	2	1	X	dbSNP_131	160	2,6726		0,2,0,2426,1872	no	coding-synonymous,coding-synonymous	AKAP4	NM_003886.2,NM_139289.1	,	22,313,64,3725,2379	TT,TC,T,CC,C		0.0297,10.9257,3.9856	,	813/855,804/846	49955729	421,10142	2203	4300	6503	SO:0001819	synonymous_variant	8852	exon6			CCCCTTCTCTGCT	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2412G>A	X.37:g.49955729C>T		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	117	6	NM_003886	0	0	0	0	0		Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																			C|0.961;T|0.039		0.502	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		T	49955729	C	T	49955729	2	4	5	1	0	0	0	0	0	0	0	1	453	912	32	3		3	AKAP4	23	49955729	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	1030714	49955729	105314831	645	1106											
UBQLN2	29978	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-													aggacccactggccctgcagCcccccctggctccaccggct							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:56591874delC	ENST00000338222.5	+	1	1849	c.1568delC	c.(1567-1569)gccfs	p.A523fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	12 X 3 AA tandem repeats of P-X-X.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P525fs*71(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCTGCAGCCCCCCCTGGC	0.642																																					p.A523fs	Esophageal Squamous(104;218 1492 6022 10838 28884)	.											.	UBQLN2-131	1	Deletion - Frameshift(1)	large_intestine(1)	c.1568delC						.						8	9	8					X																	56591874		2158	4239	6397	SO:0001589	frameshift_variant	29978	exon1			CTGCAGCCCCCCC	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1568delC	X.37:g.56591874delC	ENSP00000345195:p.Ala523fs	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	57	48	NM_013444	0	0	0	0	0	O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Del	DEL	ENST00000338222.5	37	CCDS14374.1																																																																																			.		0.642	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		-	56591874	C	-	56591874	7	5	5	1	0	1	0	1	0	0	0	0	16946	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-OR-A5J5-01A-11D-A29I-10	6636145	56591874	98678686	646	1107											
STARD8	9754	broad.mit.edu	37	chrX	67941902	67941902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctaggatcaagagcaaaCgcagcctcattggcaggcca	10	12	3	1	rs61735034	byFrequency	TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:67941902C>T	ENST00000252336.6	+	10	2605	c.2233C>T	c.(2233-2235)Cgc>Tgc	p.R745C	STARD8_ENST00000374597.3_Missense_Mutation_p.R745C|STARD8_ENST00000374599.3_Missense_Mutation_p.R825C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAAGAGCAAACGCAGCCTCAT	0.557													C|||	5	0.0013245	0.003	0.0014	3775	,	,		15402	0		0	False		,,,				2504	0				p.R825C		.											.	STARD8-196	0			c.C2473T						.	C	CYS/ARG,CYS/ARG,CYS/ARG	22,3813		0,17,5,1615,566	51	44	47		2473,2233,2233	2.3	0.8	X	dbSNP_129	47	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	180,180,180	0,17,5,4043,2438	TT,TC,T,CC,C		0.0,0.5737,0.2083	probably-damaging,probably-damaging,probably-damaging	825/1104,745/1024,745/1024	67941902	22,10541	2203	4300	6503	SO:0001583	missense	9754	exon11			AGCAAACGCAGCC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2233C>T	X.37:g.67941902C>T	ENSP00000252336:p.Arg745Cys	Somatic	87	2		WXS	Illumina GAIIx	Phase_I	169	7	NM_001142503	0	0	0	0	0	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.32	1.604403	0.28623	0.005737	0.0	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08634	3.07;3.07;3.07	4.07	2.29	0.28610	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.141449	0.42548	N	0.000694	T	0.11580	0.0282	L	0.50333	1.59	0.54753	D	0.999983	D;D	0.89917	1.0;0.999	D;D	0.71414	0.972;0.973	T	0.02661	-1.1127	10	0.87932	D	0	.	3.2582	0.06839	0.2058:0.561:0.0:0.2332	rs61735034	825;745	Q92502-2;Q92502	.;STAR8_HUMAN	C	745;825;745	ENSP00000252336:R745C;ENSP00000363727:R825C;ENSP00000363725:R745C	ENSP00000252336:R745C	R	+	1	0	STARD8	67858627	0.208000	0.23494	0.847000	0.33407	0.061000	0.15899	0.913000	0.28611	0.333000	0.23563	0.513000	0.50165	CGC	C|0.998;T|0.002		0.557	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		T	67941902	C	T	67941902	3	4	5	1	0	0	0	0	1	0	0	0	15310	536	19	1	2515	1	STARD8	23	67941902	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	11350028	67941902	87328658	647	1108											
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	69902635	69902635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccgatgacttaaaacGttcatgaataatcgtcagga	7	7	2	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:69902635G>A	ENST00000395889.2	-	15	1245	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TEX11_ENST00000374333.2_Missense_Mutation_p.R349C|TEX11_ENST00000344304.3_Missense_Mutation_p.R364C|TEX11_ENST00000374320.2_Missense_Mutation_p.R39C	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	364					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GACTTAAAACGTTCATGAATA	0.358																																					p.R364C		.											.	TEX11-178	0			c.C1090T						.						70	59	62					X																	69902635		2203	4300	6503	SO:0001583	missense	56159	exon15			TAAAACGTTCATG	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1090C>T	X.37:g.69902635G>A	ENSP00000379226:p.Arg364Cys	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	111	46	NM_001003811	0	0	0	0	0	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022825	0.19433	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.50001	1.27;1.28;0.76;1.28	4.56	2.76	0.32466	.	0.393945	0.25848	N	0.027905	T	0.44008	0.1273	L	0.38175	1.15	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.54815	0.648;0.761	T	0.22871	-1.0204	9	.	.	.	-2.6515	4.8485	0.13524	0.1134:0.0:0.6774:0.2092	.	349;364	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	C	349;364;39;364	ENSP00000363453:R349C;ENSP00000379226:R364C;ENSP00000363440:R39C;ENSP00000340995:R364C	.	R	-	1	0	TEX11	69819360	0.402000	0.25311	0.166000	0.22797	0.005000	0.04900	1.561000	0.36342	0.368000	0.24481	0.415000	0.27848	CGT	.		0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69902635	G	A	69902635	3	1	5	1	0	0	0	0	1	0	0	0	15821	1145	40	1	1800	1	TEX11	23	69902635	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	1960733	69902635	85367925	648	1109											
SLC7A3	84889	broad.mit.edu;bcgsc.ca	37	chrX	70148709	70148709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccagtgagcagcaacaCgaggcccaaagcaaagaaat	9	12	1	2	rs368607994		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:70148709C>T	ENST00000374299.3	-	3	658	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V172M			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	172					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)	p.V172L(1)		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)	AGCAGCAACACGAGGCCCAAA	0.567																																					p.V172M		.											.	SLC7A3-132	1	Substitution - Missense(1)	lung(1)	c.G514A						.						67	62	64					X																	70148709		2203	4300	6503	SO:0001583	missense	84889	exon3			GCAACACGAGGCC	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.514G>A	X.37:g.70148709C>T	ENSP00000363417:p.Val172Met	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	131	6	NM_032803	0	0	0	0	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507506	0.64410	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90069	-2.61;-2.61	5.16	4.27	0.50696	Amino acid permease domain (1);	0.253078	0.41001	D	0.000975	D	0.92961	0.7760	M	0.86343	2.81	0.40129	D	0.976692	D	0.65815	0.995	P	0.58820	0.846	D	0.92880	0.6322	10	0.87932	D	0	.	7.83	0.29336	0.0:0.7777:0.0:0.2223	.	172	Q8WY07	CTR3_HUMAN	M	172	ENSP00000363417:V172M;ENSP00000298085:V172M	ENSP00000298085:V172M	V	-	1	0	SLC7A3	70065434	0.697000	0.27767	0.473000	0.27253	0.940000	0.58332	1.134000	0.31442	1.088000	0.41272	0.436000	0.28706	GTG	.		0.567	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70148709	C	T	70148709	3	4	5	1	0	0	0	0	1	0	0	0	14743	536	19	1	1385	1	SLC7A3	23	70148709	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	246074	70148709	85121851	649	1110											
KIAA2022	340533	broad.mit.edu;bcgsc.ca	37	chrX	73960665	73960665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggtttggcttcccccacGgccaatgccaatttgcattt	9	12	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:73960665G>A	ENST00000055682.6	-	3	4338	c.3727C>T	c.(3727-3729)Cgt>Tgt	p.R1243C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1243					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R1243C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCCCCACGGCCAATGCCA	0.493																																					p.R1243C		.											.	KIAA2022-183	1	Substitution - Missense(1)	lung(1)	c.C3727T						.						110	75	86					X																	73960665		2203	4300	6503	SO:0001583	missense	340533	exon3			CCCCACGGCCAAT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3727C>T	X.37:g.73960665G>A	ENSP00000055682:p.Arg1243Cys	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	239	11	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087867	0.08583	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33216	1.42;1.42	4.94	4.07	0.47477	.	0.499042	0.23369	N	0.048922	T	0.19927	0.0479	N	0.24115	0.695	0.34057	D	0.656847	B	0.10296	0.003	B	0.10450	0.005	T	0.13899	-1.0492	10	0.87932	D	0	-0.2586	7.3167	0.26505	0.0:0.1339:0.5084:0.3577	.	1243	Q5QGS0	K2022_HUMAN	C	1243	ENSP00000362567:R1243C;ENSP00000055682:R1243C	ENSP00000055682:R1243C	R	-	1	0	KIAA2022	73877390	0.023000	0.18921	0.445000	0.26908	0.590000	0.36582	0.728000	0.26013	1.055000	0.40461	-0.229000	0.12294	CGT	.		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73960665	G	A	73960665	3	1	5	1	0	0	0	0	1	0	0	0	8296	1116	39	1	831	1	KIAA2022	23	73960665	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	3811956	73960665	81309895	650	1111											
KIAA2022	340533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	73961524	73961524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatcagatgggagttgGgtatcttgcatggagtcata	14	5	4	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:73961524G>A	ENST00000055682.6	-	3	3479	c.2868C>T	c.(2866-2868)acC>acT	p.T956T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	956					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGGGAGTTGGGTATCTTGCA	0.438																																					p.T956T		.											.	KIAA2022-183	0			c.C2868T						.						173	149	157					X																	73961524		2203	4300	6503	SO:0001819	synonymous_variant	340533	exon3			GAGTTGGGTATCT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2868C>T	X.37:g.73961524G>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	137	13	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																			.		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73961524	G	A	73961524	2	1	5	1	0	0	0	0	0	0	0	1	8296	1219	43	3		3	KIAA2022	23	73961524	Silent	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	859	73961524	81309036	651	1112											
PRPS1	5631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	106890920	106890920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatttctcgcatcaacaaCgcatgctttgaggcagtagt	9	10	2	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:106890920C>T	ENST00000372435.4	+	6	911	c.789C>T	c.(787-789)aaC>aaT	p.N263N	PRPS1_ENST00000372428.4_Silent_p.N196N|PRPS1_ENST00000543248.1_Silent_p.N263N|PRPS1_ENST00000372418.1_Silent_p.N163N	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	263					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						GCATCAACAACGCATGCTTTG	0.458																																					p.N263N		.											.	PRPS1-289	0			c.C789T						.						158	130	140					X																	106890920		2203	4300	6503	SO:0001819	synonymous_variant	5631	exon6			CAACAACGCATGC	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.789C>T	X.37:g.106890920C>T		Somatic	167	0		WXS	Illumina GAIIx	Phase_I	216	103	NM_002764	0	0	14	30	16	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	CCDS14529.1																																																																																			.		0.458	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			T	106890920	C	T	106890920	2	4	5	1	0	0	0	0	0	0	0	1	12620	535	19	1		1	PRPS1	23	106890920	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	32929396	106890920	48379640	652	1113											
CAPN6	827	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	110496401	110496402	+	Frame_Shift_Ins	INS	-	-	T													tatcccagcgtatttttctgINSttttttgagggtcccattcc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:110496401_110496402insT	ENST00000324068.1	-	4	507_508	c.340_341insA	c.(340-342)acafs	p.T114fs	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	114	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTATTTTTCTGTTTTTTGAGGG	0.406																																					p.T114fs		.											.	CAPN6-195	0			c.341_342insA						.																																			SO:0001589	frameshift_variant	827	exon4			TTTTCTGTTTTTT	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.341dupA	X.37:g.110496407_110496407dupT	ENSP00000317214:p.Thr114fs	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	54	49	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Ins	INS	ENST00000324068.1	37	CCDS14555.1																																																																																			.		0.406	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			T	110496402	-	T	110496401	7	5	5	1	0	1	1	0	0	0	0	0	2637	1377	48	0	1624	0	CAPN6	23	110496401	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	3605481	110496401	44774159	653	1114											
HTR2C	3358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	114141204	114141204	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggacgaagaaaaggtgttCgtgaacaacacgacgtgcgt	14	7	0	2			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:114141204C>T	ENST00000276198.1	+	6	1331	c.603C>T	c.(601-603)ttC>ttT	p.F201F	HTR2C_ENST00000371951.1_Silent_p.F201F|HTR2C_ENST00000371950.3_Missense_Mutation_p.R170C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	201					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448																																					p.R170C		.											.	HTR2C-133	0			c.C508T						.						211	172	186					X																	114141204		2203	4300	6503	SO:0001819	synonymous_variant	3358	exon6			GGTGTTCGTGAAC		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.603C>T	X.37:g.114141204C>T		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	251	90	NM_001256761	0	0	0	0	0	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237011	0.39498	.	.	ENSG00000147246	ENST00000371950	T	0.57752	0.38	4.87	3.05	0.35203	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.29373	N	0.863855	B	0.09022	0.002	B	0.04013	0.001	T	0.40459	-0.9562	8	0.72032	D	0.01	.	6.8739	0.24135	0.0:0.6852:0.0:0.3148	.	170	B1AMW4	.	C	170	ENSP00000361018:R170C	ENSP00000361018:R170C	R	+	1	0	HTR2C	114047460	0.984000	0.35163	0.894000	0.35097	0.993000	0.82548	0.277000	0.18734	0.954000	0.37851	0.538000	0.68166	CGT	.		0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		T	114141204	C	T	114141204	2	4	5	1	0	0	0	0	0	0	0	1	7470	883	31	1		1	HTR2C	23	114141204	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	3644803	114141204	41129356	654	1115											
AGTR2	186	hgsc.bcm.edu;bcgsc.ca	37	chrX	115303928	115303928	+	Frame_Shift_Del	DEL	T	T	-													cctgaacatgtttgcaagcaTtttttttatcacctgcatga					rs387906503		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:115303928delT	ENST00000371906.4	+	3	585	c.395delT	c.(394-396)attfs	p.I132fs		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	132					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)	TTTGCAAGCATTTTTTTTATC	0.393																																					p.I132fs		.											.	AGTR2-565	0			c.395delT						.			2,0,3717		0,0,2,0,0,0,1589,537	180	172	174			3.5	1	X		176	4,11,6467		0,0,4,0,4,7,2348,1763	no	codingComplex	AGTR2	NM_000686.4		0,0,6,0,4,7,3937,2300	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		0.2314,0.0538,0.1667			115303928	6,11,10184	2203	4300	6503	SO:0001589	frameshift_variant	186	exon3			CAAGCATTTTTTT	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.395delT	X.37:g.115303928delT	ENSP00000360973:p.Ile132fs	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	72	59	NM_000686	0	0	0	0	0	B2R9V1|Q13016|Q6FGY7	Frame_Shift_Del	DEL	ENST00000371906.4	37	CCDS14569.1																																																																																			.		0.393	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		-	115303928	T	-	115303928	7	5	5	1	0	1	0	1	0	0	0	0	402	1493	52	0	397	0	AGTR2	23	115303928	Frame_Shift_Del	DEL	T	TCGA-OR-A5J5-01A-11D-A29I-10	1162724	115303928	39966632	655	1116											
NKAP	79576	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	119059239	119059239	+	Frame_Shift_Del	DEL	G	G	-													catttctcgaaaactggccaGaatcttgttctctctctttc							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:119059239delG	ENST00000371410.3	-	9	1358	c.1192delC	c.(1192-1194)ctgfs	p.L398fs	AC002477.1_ENST00000581061.1_RNA|NKAP_ENST00000477789.1_5'UTR|RP3-327A19.5_ENST00000455986.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	398	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAACTGGCCAGAATCTTGTTC	0.398																																					p.L398fs		.											.	NKAP-132	0			c.1192delC						.						173	160	164					X																	119059239		2203	4300	6503	SO:0001589	frameshift_variant	79576	exon9			TGGCCAGAATCTT	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1192delC	X.37:g.119059239delG	ENSP00000360464:p.Leu398fs	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	87	82	NM_024528	0	0	0	0	0	Q6IPW6|Q96BQ2|Q9H638	Frame_Shift_Del	DEL	ENST00000371410.3	37	CCDS14592.1																																																																																			.		0.398	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		-	119059239	G	-	119059239	7	5	5	1	0	1	0	1	0	0	0	0	10478	933	33	0	59	0	NKAP	23	119059239	Frame_Shift_Del	DEL	G	TCGA-OR-A5J5-01A-11D-A29I-10	3755311	119059239	36211321	656	1117											
ATP1B4	23439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	119512613	119512613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctactacccttactaCggcaaactgactcacgtaag	6	15	1	1	rs148650396		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:119512613C>T	ENST00000218008.3	+	7	954	c.897C>T	c.(895-897)taC>taT	p.Y299Y	ATP1B4_ENST00000539306.1_Silent_p.Y256Y|ATP1B4_ENST00000361319.3_Silent_p.Y295Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	299					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACCCTTACTACGGCAAACTGA	0.458																																					p.Y299Y		.											.	ATP1B4-131	0			c.C897T						.	C	,	1,3834		0,1,1631,571	162	137	146		897,885	-5.9	0.9	X	dbSNP_134	146	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	ATP1B4	NM_001142447.2,NM_012069.4	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	299/358,295/354	119512613	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23439	exon7			TTACTACGGCAAA	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.897C>T	X.37:g.119512613C>T		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	95	11	NM_001142447	0	0	0	0	0	Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	CCDS48158.1																																																																																			C|1.000;T|0.000		0.458	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		T	119512613	C	T	119512613	2	4	5	1	0	0	0	0	0	0	0	1	1136	547	19	1		1	ATP1B4	23	119512613	Silent	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	453374	119512613	35757947	657	1118											
BCORL1	63035	hgsc.bcm.edu;bcgsc.ca	37	chrX	129149050	129149050	+	Frame_Shift_Del	DEL	A	A	-													gcactggtgccacgtgtggcAaaaagggcagccaggctggt							TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:129149050delA	ENST00000218147.7	+	4	2499	c.2302delA	c.(2302-2304)aaafs	p.K769fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K769fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K769fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.K769fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	769					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGTGTGGCAAAAAGGGCAG	0.607																																					p.K768fs		.											.	BCORL1-294	0			c.2302delA						.						56	50	52					X																	129149050		2203	4300	6503	SO:0001589	frameshift_variant	63035	exon3			TGTGGCAAAAAGG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2302delA	X.37:g.129149050delA	ENSP00000218147:p.Lys769fs	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	149	133	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	CCDS14616.1																																																																																			.		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		-	129149050	A	-	129149050	7	5	5	1	0	1	0	1	0	0	0	0	1388	131	5	0	2312	0	BCORL1	23	129149050	Frame_Shift_Del	DEL	A	TCGA-OR-A5J5-01A-11D-A29I-10	9636437	129149050	26121510	658	1119											
MAP7D3	79649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135323411	135323411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctccgttccaaagtaCgataaagaatggctgtaaat	8	9	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:135323411C>T	ENST00000316077.9	-	5	663	c.443G>A	c.(442-444)cGt>cAt	p.R148H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R130H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R148H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	148					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTCCAAAGTACGATAAAGAAT	0.323																																					p.R148H		.											.	MAP7D3-110	0			c.G443A						.						52	46	48					X																	135323411		1822	4085	5907	SO:0001583	missense	79649	exon5			AAAGTACGATAAA	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.443G>A	X.37:g.135323411C>T	ENSP00000318086:p.Arg148His	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	105	41	NM_024597	0	0	0	0	0	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682065	0.68042	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.15	4.26	0.50523	.	.	.	.	.	T	0.34542	0.0901	M	0.72479	2.2	0.34391	D	0.694203	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.994;0.996	T	0.50575	-0.8812	9	0.72032	D	0.01	-12.8721	10.9291	0.47207	0.0:0.9019:0.0:0.0981	.	130;148;148;148	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	148;148;130;148	ENSP00000359695:R148H;ENSP00000318086:R148H;ENSP00000359697:R130H;ENSP00000359694:R148H	ENSP00000318086:R148H	R	-	2	0	MAP7D3	135151077	0.564000	0.26602	0.013000	0.15412	0.031000	0.12232	1.300000	0.33436	0.897000	0.36392	0.538000	0.68166	CGT	.		0.323	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135323411	C	T	135323411	3	4	5	1	0	0	0	0	1	0	0	0	9307	536	19	1	2243	1	MAP7D3	23	135323411	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	6174361	135323411	19947149	659	1120											
MAGEA12	4111	broad.mit.edu;bcgsc.ca	37	chrX	151900357	151900357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctttgctgaagatcacAggaaagaagtcctggaaatt	12	6	1	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:151900357A>G	ENST00000357916.4	-	2	599	c.444T>C	c.(442-444)ccT>ccC	p.P148P	CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.P148P|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.P148P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	148	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P148P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCACAGGAAAGAAGT	0.512																																					p.P148P		.											.	MAGEA12-131	2	Substitution - coding silent(2)	lung(2)	c.T444C						.						148	141	144					X																	151900357		2203	4300	6503	SO:0001819	synonymous_variant	4111	exon2			GATCACAGGAAAG		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.444T>C	X.37:g.151900357A>G		Somatic	353	0		WXS	Illumina GAIIx	Phase_I	512	14	NM_005367	0	0	0	0	0	Q9NSD3	Silent	SNP	ENST00000357916.4	37	CCDS14710.1																																																																																			.		0.512	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		G	151900357	A	G	151900357	2	3	5	1	0	0	0	0	0	0	0	1	9202	175	7	4		4	MAGEA12	23	151900357	Silent	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	16576946	151900357	3370203	660	1121											
MAGEA12	4111	broad.mit.edu;bcgsc.ca	37	chrX	151900373	151900373	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaaagaagtcctggAaatttctgatgacactcccc	8	11	2	3			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:151900373A>C	ENST00000357916.4	-	2	583	c.428T>G	c.(427-429)tTc>tGc	p.F143C	CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.F143C|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.F143C	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	143	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTCCTGGAAATTTCTGAT	0.507													.|||	1	0.000264901	8e-04	0	3775	,	,		16417	0		0	False		,,,				2504	0				p.F143C		.											.	MAGEA12-131	0			c.T428G						.						145	138	140					X																	151900373		2203	4300	6503	SO:0001583	missense	4111	exon2			TCCTGGAAATTTC		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.428T>G	X.37:g.151900373A>C	ENSP00000350592:p.Phe143Cys	Somatic	351	0		WXS	Illumina GAIIx	Phase_I	481	17	NM_005367	0	0	0	0	0	Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-2.976630	0.00047	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04809	3.55;3.55;3.55	0.8	-1.6	0.08426	.	0.582469	0.19584	N	0.110762	T	0.01835	0.0058	N	0.05158	-0.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40776	-0.9545	9	0.48119	T	0.1	.	.	.	.	.	143	P43365	MAGAC_HUMAN	C	143	ENSP00000350592:F143C;ENSP00000377447:F143C;ENSP00000377478:F143C	ENSP00000350592:F143C	F	-	2	0	MAGEA12	151651029	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.354000	0.07681	-1.733000	0.01357	-1.651000	0.00758	TTC	.		0.507	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		C	151900373	A	C	151900373	3	2	5	1	0	0	0	0	1	0	0	0	9202	246	9	5	520	5	MAGEA12	23	151900373	Missense_Mutation	SNP	A	TCGA-OR-A5J5-01A-11D-A29I-10	16	151900373	3370187	661	1122											
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152807870	152807870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgagtctgaccacgtgCgcaagtcagctgacaaagat	13	11	2	3	rs373144811		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:152807870C>T	ENST00000349466.2	+	5	1080	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	252					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657																																					p.R252C		.											.	ATP2B3-109	0			c.C754T						.	C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	93	64	74		754,754	5.4	1	X		74	1,6727		0,1,2427,1872	no	missense,missense	ATP2B3	NM_001001344.2,NM_021949.3	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	252/1221,252/1174	152807870	1,10562	2203	4300	6503	SO:0001583	missense	492	exon4			CACGTGCGCAAGT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.754C>T	X.37:g.152807870C>T	ENSP00000343886:p.Arg252Cys	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	208	84	NM_001001344	0	0	7	11	4	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755304	0.69648	0.0	1.49E-4	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.184234	0.47852	D	0.000210	D	0.88644	0.6492	L	0.57130	1.785	0.49582	D	0.999803	P;B	0.43314	0.803;0.432	B;B	0.37015	0.239;0.153	D	0.89963	0.4088	10	0.62326	D	0.03	-1.2872	16.9818	0.86329	0.0:1.0:0.0:0.0	.	252;252	Q16720;Q16720-2	AT2B3_HUMAN;.	C	252	ENSP00000359205:R252C;ENSP00000343886:R252C;ENSP00000377425:R252C;ENSP00000352062:R252C;ENSP00000263519:R252C;ENSP00000359200:R252C	ENSP00000263519:R252C	R	+	1	0	ATP2B3	152461064	0.001000	0.12720	1.000000	0.80357	0.661000	0.39034	0.570000	0.23653	2.273000	0.75805	0.513000	0.50165	CGC	.		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152807870	C	T	152807870	3	4	5	1	0	0	0	0	1	0	0	0	1142	768	27	1	768	1	ATP2B3	23	152807870	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	907497	152807870	2462690	662	1123											
PLXNB3	5365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chrX	153042767	153042767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcggtgcagcagcctgCgggagcgcgagccagcaagg	19	11	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153042767C>T	ENST00000361971.5	+	30	5146	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R1331W|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1701W|PLXNB3_ENST00000485980.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1678					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)					CAGCAGCCTGCGGGAGCGCGA	0.672																																					p.R1701W		.											.	PLXNB3-130	0			c.C5101T						.						45	29	35					X																	153042767		2198	4294	6492	SO:0001583	missense	5365	exon31			AGCCTGCGGGAGC	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.5032C>T	X.37:g.153042767C>T	ENSP00000355378:p.Arg1678Trp	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	198	85	NM_001163257	0	0	54	97	43	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371953	0.42003	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.12879	2.64;2.64;2.64	5.1	3.26	0.37387	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.662708	0.12579	N	0.456604	T	0.34483	0.0899	M	0.62723	1.935	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	0.01294	-1.1393	10	0.72032	D	0.01	.	12.3814	0.55309	0.3307:0.6693:0.0:0.0	.	1331;1701;1678	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	W	1701;1678;1331	ENSP00000442736:R1701W;ENSP00000355378:R1678W;ENSP00000445569:R1331W	ENSP00000355378:R1678W	R	+	1	2	PLXNB3	152695961	0.975000	0.34042	0.268000	0.24571	0.034000	0.12701	3.118000	0.50414	0.428000	0.26173	0.529000	0.55759	CGG	.		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153042767	C	T	153042767	3	4	5	1	0	0	0	0	1	0	0	0	12164	759	27	1	5264	1	PLXNB3	23	153042767	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	234897	153042767	2227793	663	1124											
PDZD4	57595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153073942	153073942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaggagctgtccccccGgaggcgggggctgcgtctca	17	13	1	1			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153073942G>A	ENST00000164640.4	-	2	360	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	57						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCCCCCGGAGGCGGGGG	0.647																																					p.R57W		.											.	PDZD4-193	0			c.C169T						.						37	30	33					X																	153073942		2201	4295	6496	SO:0001583	missense	57595	exon2			CCCCCCGGAGGCG	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.169C>T	X.37:g.153073942G>A	ENSP00000164640:p.Arg57Trp	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	218	112	NM_032512	0	0	4	6	2	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712515	0.68730	.	.	ENSG00000067840	ENST00000164640	T	0.05580	3.42	5.52	4.66	0.58398	.	0.237532	0.26220	U	0.025632	T	0.12603	0.0306	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.54210	0.677;0.745	T	0.01105	-1.1450	10	0.87932	D	0	-29.7845	7.6334	0.28253	0.0865:0.0:0.7511:0.1624	.	57;57	Q17RL8;Q76G19	.;PDZD4_HUMAN	W	57	ENSP00000164640:R57W	ENSP00000164640:R57W	R	-	1	2	PDZD4	152727136	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	2.028000	0.41088	1.099000	0.41499	-0.197000	0.12766	CGG	.		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		A	153073942	G	A	153073942	3	1	5	1	0	0	0	0	1	0	0	0	11742	1115	39	1	2168	1	PDZD4	23	153073942	Missense_Mutation	SNP	G	TCGA-OR-A5J5-01A-11D-A29I-10	31175	153073942	2196618	664	1125											
MECP2	4204	broad.mit.edu	37	chrX	153295915	153295916	+	Frame_Shift_Ins	INS	-	-	C													aatgtctttgcgctctccctINScccctcggtgtttgtacttt					rs267608625|rs104894864		TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153295915_153295916insC	ENST00000303391.6	-	4	1612_1613	c.1363_1364insG	c.(1363-1365)gagfs	p.E455fs	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Frame_Shift_Ins_p.E467fs	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	455					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTCTCCCTCCCCTCGGTGT	0.614																																					p.E467fs		.											.	MECP2-226	0			c.1400_1401insG	GRCh37	CM024129	MECP2	M	rs104894864	.																																			SO:0001589	frameshift_variant	4204	exon3			TCTCCCTCCCCTC	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1364dupG	X.37:g.153295919_153295919dupC	ENSP00000301948:p.Glu455fs	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	152	11	NM_001110792	0	0	0	0	0	O15233|Q6QHH9|Q7Z384	Frame_Shift_Ins	INS	ENST00000303391.6	37	CCDS14741.1																																																																																			.		0.614	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		C	153295916	-	C	153295915	7	5	5	1	0	1	1	0	0	0	0	0	9461	1551	54	0	100	0	MECP2	23	153295915	Frame_Shift_Ins	INS	-	TCGA-OR-A5J5-01A-11D-A29I-10	221973	153295915	1974645	665	1126											
FLNA	2316	bcgsc.ca	37	chrX	153595114	153595114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacctcctcctggtgtcCggccgggtcctccacgtaca	9	19	0	0			TCGA-OR-A5J5-01A-11D-A29I-10	TCGA-OR-A5J5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6471eb9c-c821-4738-b250-d8472bc987ef	eff987db-5671-487e-ac2c-4472ae5fdb2e	g.chrX:153595114C>T	ENST00000369850.3	-	6	1209	c.973G>A	c.(973-975)Gga>Aga	p.G325R	FLNA_ENST00000360319.4_Missense_Mutation_p.G325R|FLNA_ENST00000344736.4_Missense_Mutation_p.G325R|FLNA_ENST00000422373.1_Missense_Mutation_p.G325R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	325					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)					TCCTGGTGTCCGGCCGGGTCC	0.642																																					p.G325R		.											.	FLNA-599	0			c.G973A						.						68	68	68					X																	153595114		2026	4152	6178	SO:0001583	missense	2316	exon6			GGTGTCCGGCCGG	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.973G>A	X.37:g.153595114C>T	ENSP00000358866:p.Gly325Arg	Somatic	43	2		WXS	Illumina GAIIx	Phase_I	126	117	NM_001456	0	0	0	4	4	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039447	0.55003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88890	0.6560	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92213	0.5778	10	0.87932	D	0	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	325;325	P21333-2;P21333	.;FLNA_HUMAN	R	325;298;325;325;325	ENSP00000353467:G325R;ENSP00000416926:G325R;ENSP00000358866:G325R;ENSP00000358863:G325R	ENSP00000358863:G325R	G	-	1	0	FLNA	153248308	1.000000	0.71417	0.950000	0.38849	0.935000	0.57460	7.809000	0.86057	2.186000	0.69663	0.525000	0.51046	GGA	.		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			T	153595114	C	T	153595114	3	4	5	1	0	0	0	0	1	0	0	0	5955	661	23	1	7142	1	FLNA	23	153595114	Missense_Mutation	SNP	C	TCGA-OR-A5J5-01A-11D-A29I-10	299199	153595114	1675446	666	1127											
ACAP3	116983	hgsc.bcm.edu	37	chr1	1229971	1229971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggcctcagtgtccccGtctgcctcaccgctggactc	10	19	3	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:1229971G>T	ENST00000354700.5	-	21	2152	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E	ACAP3_ENST00000353662.3_Missense_Mutation_p.D575E|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	650					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CAGTGTCCCCGTCTGCCTCAC	0.756																																					p.D650E		.											.	ACAP3-90	0			c.C1950A						.						7	6	6					1																	1229971		2060	4060	6120	SO:0001583	missense	116983	exon21			GTCCCCGTCTGCC	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.1950C>A	1.37:g.1229971G>T	ENSP00000346733:p.Asp650Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_030649	0	0	0	2	2	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133410	0.21041	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.26067	1.76;1.8	3.68	-4.25	0.03766	.	3.612510	0.00508	N	0.000174	T	0.05547	0.0146	N	0.00677	-1.265	0.32839	D	0.505124	B;B	0.15141	0.007;0.012	B;B	0.12156	0.003;0.007	T	0.42865	-0.9426	10	0.02654	T	1	.	1.9447	0.03354	0.3385:0.349:0.1973:0.1152	.	650;575	Q96P50;Q96P50-1	ACAP3_HUMAN;.	E	650;575	ENSP00000346733:D650E;ENSP00000321139:D575E	ENSP00000321139:D575E	D	-	3	2	ACAP3	1219834	0.001000	0.12720	0.050000	0.19076	0.447000	0.32167	-2.074000	0.01375	-1.007000	0.03408	0.185000	0.17295	GAC	.		0.756	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		T	1229971	G	T	1229971	3	4	6	1	0	0	0	0	1	0	0	0	120	1136	40	2	570	2	ACAP3	1	1229971	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		1229971	248020650	1	1128											
PLEKHG5	57449	hgsc.bcm.edu	37	chr1	6529191	6529191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctcgccttcctcctcCtcctcctcctcctcctcttc	2	24	1	0	rs386628081|rs544570668	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:6529191C>T	ENST00000400915.3	-	20	2394	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	PLEKHG5_ENST00000377748.1_Silent_p.E797E|PLEKHG5_ENST00000377737.2_Silent_p.E720E|PLEKHG5_ENST00000544978.1_Silent_p.E720E|PLEKHG5_ENST00000537245.1_Silent_p.E799E|PLEKHG5_ENST00000377725.1_Silent_p.E720E|PLEKHG5_ENST00000377728.3_Silent_p.E720E|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000535355.1_Silent_p.E789E|PLEKHG5_ENST00000340850.5_Silent_p.E720E|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000400913.1_Silent_p.E720E|PLEKHG5_ENST00000377732.1_Silent_p.E757E|PLEKHG5_ENST00000377740.3_Silent_p.E797E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	776	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)		cttcctcctcctcctcctcct	0.632																																					p.E799E		.											.	PLEKHG5-652	0			c.G2397A						.						80	79	80					1																	6529191		2203	4300	6503	SO:0001819	synonymous_variant	57449	exon20			CTCCTCCTCCTCC	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.2328G>A	1.37:g.6529191C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	62	5	NM_001265592	0	0	0	0	0	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																			C|0.981;T|0.019		0.632	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6529191	C	T	6529191	2	4	6	1	0	0	0	0	0	0	0	1	12112	680	24	3		3	PLEKHG5	1	6529191	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	5299220	6529191	242721430	2	1129											
KLHDC7A	127707	hgsc.bcm.edu	37	chr1	18809305	18809305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttacgacccccgcctggaCcgctgggactttgccccgcc	11	19	0	0	rs114671250	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:18809305C>T	ENST00000400664.1	+	1	1882	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	610						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCCTGGACCGCTGGGACT	0.701													C|||	76	0.0151757	0.053	0.0072	5008	,	,		11093	0		0.001	False		,,,				2504	0				p.D610D		.											.	KLHDC7A-93	0			c.C1830T						.	C		172,4232		5,162,2035	23	24	24		1830	3.8	1	1	dbSNP_132	24	3,8587		0,3,4292	no	coding-synonymous	KLHDC7A	NM_152375.2		5,165,6327	TT,TC,CC		0.0349,3.9055,1.3468		610/778	18809305	175,12819	2202	4295	6497	SO:0001819	synonymous_variant	127707	exon1			CCTGGACCGCTGG	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1830C>T	1.37:g.18809305C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	50	23	NM_152375	0	0	0	0	0	Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																			C|0.985;T|0.015		0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		T	18809305	C	T	18809305	2	4	6	1	0	0	0	0	0	0	0	1	8387	506	18	3		3	KLHDC7A	1	18809305	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	12280114	18809305	230441316	3	1130											
AHDC1	27245	hgsc.bcm.edu	37	chr1	27875518	27875520	+	In_Frame_Del	DEL	AGG	AGG	-													cccctcagagctgctgaagaAggaggccttgcttggtggca					rs111827498	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	AGG	AGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:27875518_27875520delAGG	ENST00000247087.5	-	5	3703_3705	c.3107_3109delCCT	c.(3106-3111)tccttc>ttc	p.S1036del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1036del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1036							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		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;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGCTGAAGAAGGAGGCCTTGCT	0.704														137	0.0273562	0.0877	0.0072	5008	,	,		14060	0.004		0	False		,,,				2504	0.0123				p.1036_1037del		.											.	AHDC1-90	0			c.3107_3109del						.			334,3910		27,280,1815						5.8	1		dbSNP_132	14	19,8207		8,3,4102	no	coding	AHDC1	NM_001029882.2		35,283,5917	A1A1,A1R,RR		0.231,7.8699,2.8308				353,12117				SO:0001651	inframe_deletion	27245	exon6			TGAAGAAGGAGGC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3107_3109delCCT	1.37:g.27875521_27875523delAGG	ENSP00000247087:p.Ser1036del	Somatic	6	2		WXS	Illumina GAIIx	Phase_I	49	17	NM_001029882	0	0	0	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	CCDS30652.1																																																																																			.		0.704	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			-	27875520	AGG	-	27875518	7	5	6	1	0	1	0	1	0	0	0	0	412	72	3	0	1706	0	AHDC1	1	27875518	In_Frame_Del	DEL	AGG	TCGA-OR-A5J6-01A-31D-A29I-10	9066213	27875518	221375103	4	1131											
MACF1	23499	broad.mit.edu	37	chr1	39852989	39852989	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcccaatttctgcaaaAttggagcggctacagtctca	8	11	2	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:39852989A>G	ENST00000372915.3	+	57	14577	c.14490A>G	c.(14488-14490)aaA>aaG	p.K4830K	MACF1_ENST00000567887.1_Silent_p.K4862K|MACF1_ENST00000564288.1_Silent_p.K4825K|MACF1_ENST00000317713.7_Silent_p.K2763K|MACF1_ENST00000545844.1_Silent_p.K2763K|MACF1_ENST00000289893.4_Silent_p.K3265K|MACF1_ENST00000539005.1_Silent_p.K2742K|MACF1_ENST00000361689.2_Silent_p.K2763K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4830					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)			TTTCTGCAAAATTGGAGCGGC	0.453																																					p.K2763K		.											.	MACF1-165	0			c.A8289G						.						127	144	138					1																	39852989		2203	4300	6503	SO:0001819	synonymous_variant	23499	exon54			TGCAAAATTGGAG	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.14490A>G	1.37:g.39852989A>G		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	118	4	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	0.293	-0.978466	0.02197	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	3.75	0.43078	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	.	8.1089	0.30903	0.7442:0.0:0.2558:0.0	.	.	.	.	V	1876	.	.	I	+	1	0	MACF1	39625576	0.999000	0.42202	1.000000	0.80357	0.460000	0.32559	1.594000	0.36697	1.119000	0.41883	0.533000	0.62120	ATT	.		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39852989	A	G	39852989	2	3	6	1	0	0	0	0	0	0	0	1	9180	98	4	4		4	MACF1	1	39852989	Silent	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	11977471	39852989	209397632	5	1132											
TIE1	7075	bcgsc.ca	37	chr1	43784956	43784956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtcggagagaacctAgcctccaagattgcagactt	12	10	0	3	rs1199039|rs45475401	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:43784956A>G	ENST00000372476.3	+	18	3052	c.2973A>G	c.(2971-2973)ctA>ctG	p.L991L	TIE1_ENST00000433781.2_Silent_p.L636L|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	991	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)				GAGAGAACCTAGCCTCCAAGA	0.567													G|||	1131	0.225839	0.1815	0.3631	5008	,	,		20631	0.1478		0.3777	False		,,,				2504	0.1125				p.L991L		.											.	TIE1-1404	0			c.A2973G						.	G		904,3502	740.8+/-411.2	93,718,1392	118	110	113		2973	5.1	1	1	dbSNP_87	113	3360,5240	642.3+/-399.8	665,2030,1605	no	coding-synonymous	TIE1	NM_005424.2		758,2748,2997	GG,GA,AA		39.0698,20.5175,32.7849		991/1139	43784956	4264,8742	2203	4300	6503	SO:0001819	synonymous_variant	7075	exon18			GAACCTAGCCTCC	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.2973A>G	1.37:g.43784956A>G		Somatic	214	2		WXS	Illumina GAIIx	Phase_I	219	6	NM_005424	0	0	46	46	0	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																			A|0.697;G|0.303		0.567	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		G	43784956	A	G	43784956	2	3	6	1	0	0	0	0	0	0	0	1	15940	407	15	4		4	TIE1	1	43784956	Silent	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	3931967	43784956	205465665	6	1133											
OMA1	115209	broad.mit.edu;bcgsc.ca	37	chr1	59004877	59004877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgaggtggatgctaaTgtgttacattttctccagtt	10	9	1	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:59004877T>C	ENST00000371226.3	-	2	203	c.90A>G	c.(88-90)acA>acG	p.T30T	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Silent_p.T30T|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	30					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGGATGCTAATGTGTTACATT	0.403																																					p.T30T		.											.	OMA1-131	0			c.A90G						.						94	95	95					1																	59004877		2203	4300	6503	SO:0001819	synonymous_variant	115209	exon2			TGCTAATGTGTTA	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.90A>G	1.37:g.59004877T>C		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	47	6	NM_145243	0	0	6	7	1	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Silent	SNP	ENST00000371226.3	37	CCDS608.1																																																																																			.		0.403	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		C	59004877	T	C	59004877	2	2	6	1	0	0	0	0	0	0	0	1	10903	1451	51	4		4	OMA1	1	59004877	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	15219921	59004877	190245744	7	1134											
SORT1	6272	bcgsc.ca	37	chr1	109884775	109884775	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgtggatccttcttgtTgtatcctagaacagatgtca	9	8	2	2	rs2228604	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:109884775T>G	ENST00000256637.6	-	9	1027	c.969A>C	c.(967-969)acA>acC	p.T323T	SORT1_ENST00000538502.1_Silent_p.T186T	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	323					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCTTCTTGTTGTATCCTAGA	0.428													T|||	3433	0.685503	0.3593	0.8271	5008	,	,		21426	0.9563		0.7127	False		,,,				2504	0.7188				p.T323T		.											.	SORT1-91	0			c.A969C						.	T	,	1850,2556	535.6+/-374.3	393,1064,746	99	80	87		558,969	-1.1	1	1	dbSNP_98	87	6253,2347	702.8+/-405.3	2277,1699,324	no	coding-synonymous,coding-synonymous	SORT1	NM_001205228.1,NM_002959.5	,	2670,2763,1070	GG,GT,TT		27.2907,41.9882,37.698	,	186/695,323/832	109884775	8103,4903	2203	4300	6503	SO:0001819	synonymous_variant	6272	exon9			TCTTGTTGTATCC	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.969A>C	1.37:g.109884775T>G		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	162	9	NM_002959	0	0	0	0	0	B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	CCDS798.1																																																																																			T|0.284;G|0.716		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		G	109884775	T	G	109884775	2	3	6	1	0	0	0	0	0	0	0	1	14980	1799	63	5		5	SORT1	1	109884775	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	50879898	109884775	139365846	8	1135											
LCE1E	353135	ucsc.edu;bcgsc.ca	37	chr1	152760075	152760075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgcagccagccctcAgggggctccagctgctgtgg	15	14	1	0	rs201660535	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:152760075A>G	ENST00000368770.3	+	2	353	c.300A>G	c.(298-300)tcA>tcG	p.S100S	LCE1E_ENST00000368771.1_Silent_p.S100S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	100	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCTCAGGGGGCTCCA	0.642													G|||	1333	0.266174	0.3654	0.2406	5008	,	,		14498	0.3313		0.1064	False		,,,				2504	0.2474				p.S100S		.											.	LCE1E-90	0			c.A300G						.	G		355,3853		89,177,1838	36	52	47		300	-4.6	0.5	1	dbSNP_132	47	177,8331		25,127,4102	no	coding-synonymous	LCE1E	NM_178353.1		114,304,5940	GG,GA,AA		2.0804,8.4363,4.1837		100/119	152760075	532,12184	2104	4254	6358	SO:0001819	synonymous_variant	353135	exon2			GCCCTCAGGGGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.300A>G	1.37:g.152760075A>G		Somatic	78	3		WXS	Illumina GAIIx	Phase_I	130	28	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			A|0.995;G|0.005		0.642	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		G	152760075	A	G	152760075	2	3	6	1	0	0	0	0	0	0	0	1	8691	175	7	4		4	LCE1E	1	152760075	Silent	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	42875300	152760075	96490546	9	1136											
ARHGAP30	257106	bcgsc.ca	37	chr1	161017556	161017556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttcaaatgcatatgaCctgcgctgagaggacaacag	11	8	1	2	rs2774279	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:161017556C>T	ENST00000368013.3	-	12	3575	c.3255G>A	c.(3253-3255)agG>agA	p.R1085R	USF1_ENST00000368020.1_5'Flank|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Silent_p.R874R|ARHGAP30_ENST00000368015.1_Silent_p.R908R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1085					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATGCATATGACCTGCGCTGAG	0.552													C|||	1093	0.218251	0.1422	0.2003	5008	,	,		20077	0.1389		0.333	False		,,,				2504	0.2975				p.R1085R		.											.	ARHGAP30-25	0			c.G3255A						.	C	,	846,3560	333.3+/-302.9	80,686,1437	87	87	87		3255,2622	-1.2	0	1	dbSNP_100	87	2856,5744	448.2+/-361.8	460,1936,1904	no	coding-synonymous,coding-synonymous	ARHGAP30	NM_001025598.1,NM_181720.2	,	540,2622,3341	TT,TC,CC		33.2093,19.2011,28.4638	,	1085/1102,874/891	161017556	3702,9304	2203	4300	6503	SO:0001819	synonymous_variant	257106	exon12			ATATGACCTGCGC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3255G>A	1.37:g.161017556C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	93	5	NM_001025598	0	0	5	5	0	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	CCDS30918.1																																																																																			C|0.752;T|0.248		0.552	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161017556	C	T	161017556	2	4	6	1	0	0	0	0	0	0	0	1	879	506	18	3		3	ARHGAP30	1	161017556	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	8257481	161017556	88233065	10	1137											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	6	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	18033744	179051300	70199321	11	1138											
CHIT1	1118	bcgsc.ca	37	chr1	203186947	203186947	+	Missense_Mutation	SNP	G	G	C													caaagtcatctaagtccagtGcccagaccatggccccgccc					rs201682373	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:203186947G>C	ENST00000367229.1	-	10	1110	c.1076C>G	c.(1075-1077)gCa>gGa	p.A359G	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.A350G|CHIT1_ENST00000255427.3_Missense_Mutation_p.A340G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	359					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TAAGTCCAGTGCCCAGACCAT	0.637																																					p.A359G		.											.	CHIT1-90	0			c.C1076G						.						60	52	55					1																	203186947		2203	4300	6503	SO:0001583	missense	1118	exon10			TCCAGTGCCCAGA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1076C>G	1.37:g.203186947G>C	ENSP00000356198:p.Ala359Gly	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	68	6	NM_003465	0	0	0	0	0	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728517	0.15507	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	4.57	0.302	0.15786	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.729039	0.11613	N	0.546569	T	0.10035	0.0246	M	0.85630	2.765	0.09310	N	1	B;B	0.27853	0.191;0.016	B;B	0.29176	0.099;0.04	T	0.34079	-0.9843	10	0.87932	D	0	-8.5687	2.2813	0.04115	0.1816:0.1509:0.5123:0.1553	.	350;359	G5EA51;Q13231	.;CHIT1_HUMAN	G	359;340;350	ENSP00000356198:A359G;ENSP00000255427:A340G;ENSP00000438078:A350G	ENSP00000255427:A340G	A	-	2	0	CHIT1	201453570	0.150000	0.22732	0.000000	0.03702	0.071000	0.16799	2.681000	0.46926	-0.144000	0.11314	0.563000	0.77884	GCA	G|0.988;C|0.012		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		C	203186947	G	C	203186947	3	2	6	1	0	0	0	0	1	0	0	0	3353	1319	46	3	332	3	CHIT1	1	203186947	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	24135647	203186947	46063674	12	1139	10	2									
CHIT1	1118	bcgsc.ca	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T													agtcatctaagtccagtgccCagaccatggccccgcccagt					rs201320385|rs3831317|rs150192398	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		.											.	CHIT1-90	0			c.G1073A						.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	69	8	NM_003465	0	0	0	0	0	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	6	1	0	0	0	0	0	1	0	0	3353	595	21	3	335	3	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	3	203186950	46063671	13	1140	10	2									
RASSF5	83593	hgsc.bcm.edu	37	chr1	206681323	206681323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttcgccgagttggtgCtgccgggcggccccggctgg	17	14	0	0	rs77707044	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:206681323C>T	ENST00000355294.4	+	1	445	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	RASSF5_ENST00000367117.3_Silent_p.L130L	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	130					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGAGTTGGTGCTGCCGGGCGG	0.721													c|||	173	0.0345447	0.1248	0.0115	5008	,	,		10930	0		0	False		,,,				2504	0				p.L130L	GBM(162;656 1984 11916 22872 31529)	.											.	RASSF5-660	0			c.C388T						.		,	352,3428		14,324,1552	6	6	6		388,388	3.8	0.3	1	dbSNP_131	6	1,7483		0,1,3741	no	coding-synonymous,coding-synonymous	RASSF5	NM_182663.2,NM_182664.2	,	14,325,5293	TT,TC,CC		0.0134,9.3122,3.1339	,	130/419,130/337	206681323	353,10911	1890	3742	5632	SO:0001819	synonymous_variant	83593	exon1			TTGGTGCTGCCGG	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.388C>T	1.37:g.206681323C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	33	24	NM_182663	0	0	0	0	0	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Silent	SNP	ENST00000355294.4	37	CCDS30998.1																																																																																			C|0.970;T|0.030		0.721	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		T	206681323	C	T	206681323	2	4	6	1	0	0	0	0	0	0	0	1	13134	796	28	3		3	RASSF5	1	206681323	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	3494373	206681323	42569298	14	1141											
CENPF	1063	broad.mit.edu	37	chr1	214818291	214818291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcatgtgatagaggaccGtgacagaaaagttgaaagtt	11	5	1	5	rs143725699	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:214818291G>A	ENST00000366955.3	+	13	5546	c.5378G>A	c.(5377-5379)cGt>cAt	p.R1793H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1889					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)		ATAGAGGACCGTGACAGAAAA	0.358													G|||	4	0.000798722	0	0.0029	5008	,	,		20325	0		0.002	False		,,,				2504	0				p.R1793H	Colon(80;575 1284 11000 14801 43496)	.											.	CENPF-567	0			c.G5378A						.	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	38	40	39		5378	2.5	0.8	1	dbSNP_134	39	26,8574	17.9+/-57.8	0,26,4274	yes	missense	CENPF	NM_016343.3	29	0,30,6473	AA,AG,GG		0.3023,0.0908,0.2307	benign	1793/3115	214818291	30,12976	2203	4300	6503	SO:0001583	missense	1063	exon13			AGGACCGTGACAG	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.5378G>A	1.37:g.214818291G>A	ENSP00000355922:p.Arg1793His	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	111	4	NM_016343	0	0	0	0	0	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	G	8.861	0.947055	0.18356	9.08E-4	0.003023	ENSG00000117724	ENST00000366955	T	0.03242	4.0	5.56	2.51	0.30379	.	0.551000	0.14154	N	0.337826	T	0.02727	0.0082	L	0.60455	1.87	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.48091	-0.9065	10	0.13108	T	0.6	.	6.0743	0.19907	0.3165:0.1246:0.5589:0.0	.	1889	P49454	CENPF_HUMAN	H	1793	ENSP00000355922:R1793H	ENSP00000355922:R1793H	R	+	2	0	CENPF	212884914	0.017000	0.18338	0.777000	0.31699	0.604000	0.37047	0.898000	0.28404	0.229000	0.21039	0.609000	0.83330	CGT	G|0.998;A|0.002		0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214818291	G	A	214818291	3	1	6	1	0	0	0	0	1	0	0	0	3238	1145	40	1	5424	1	CENPF	1	214818291	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	8136968	214818291	34432330	15	1142											
TRIM58	25893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248039251	248039251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgagtctgctcttgacCgccgacctgcgcagtgtgca	11	16	2	1	rs201527424	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:248039251C>T	ENST00000366481.3	+	6	969	c.921C>T	c.(919-921)acC>acT	p.T307T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTCTTGACCGCCGACCTGC	0.572																																					p.T307T		.											.	TRIM58-96	0			c.C921T						.						76	71	73					1																	248039251		2203	4300	6503	SO:0001819	synonymous_variant	25893	exon6			CTTGACCGCCGAC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.921C>T	1.37:g.248039251C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	126	35	NM_015431	0	0	0	0	0	Q6B0H9	Silent	SNP	ENST00000366481.3	37	CCDS1636.1																																																																																			C|1.000;G|0.000		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039251	C	T	248039251	2	4	6	1	0	0	0	0	0	0	0	1	16579	639	23	1		1	TRIM58	1	248039251	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	33220960	248039251	1211370	16	1143											
OR2M5	127059	broad.mit.edu	37	chr1	248308612	248308612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctacctggacacccagCtccacacccccatgtacttc	4	19	2	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr1:248308612C>T	ENST00000366476.1	+	1	163	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGACACCCAGCTCCACACCCC	0.532																																					p.L55F		.											.	OR2M5-71	0			c.C163T						.						311	295	301					1																	248308612		2203	4300	6503	SO:0001583	missense	127059	exon1			ACCCAGCTCCACA		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.163C>T	1.37:g.248308612C>T	ENSP00000355432:p.Leu55Phe	Somatic	280	0		WXS	Illumina GAIIx	Phase_I	333	7	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	10.75	1.439197	0.25900	.	.	ENSG00000162727	ENST00000366476	T	0.14391	2.51	3.28	0.15	0.14883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29328	U	0.012477	T	0.41190	0.1148	M	0.93939	3.475	0.21861	N	0.999506	D	0.89917	1.0	D	0.91635	0.999	T	0.24440	-1.0160	10	0.87932	D	0	.	8.0815	0.30748	0.0:0.7112:0.0:0.2888	.	55	A3KFT3	OR2M5_HUMAN	F	55	ENSP00000355432:L55F	ENSP00000355432:L55F	L	+	1	0	OR2M5	246375235	0.556000	0.26538	0.002000	0.10522	0.007000	0.05969	1.167000	0.31847	-0.232000	0.09811	-0.326000	0.08463	CTC	.		0.532	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		T	248308612	C	T	248308612	3	4	6	1	0	0	0	0	1	0	0	0	11052	797	28	3	165	3	OR2M5	1	248308612	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	269361	248308612	942009	17	1144											
NTSR2	23620	hgsc.bcm.edu	37	chr2	11810118	11810118	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgcattgcccgccgcGcccagcgcccagatgagtgc	13	17	0	2	rs113661052	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:11810118G>C	ENST00000306928.5	-	1	172	c.138C>G	c.(136-138)ggC>ggG	p.G46G		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	46					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGCCCGCCGCGCCCAGCGCCC	0.761													G|||	39	0.00778754	0.0295	0	5008	,	,		13834	0		0	False		,,,				2504	0				p.G46G		.											.	NTSR2-946	0			c.C138G						.						2	2	2					2																	11810118		1399	2802	4201	SO:0001819	synonymous_variant	23620	exon1			CGCCGCGCCCAGC	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.138C>G	2.37:g.11810118G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	13	NM_012344	0	0	0	1	1	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																			G|0.500;C|0.500		0.761	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			C	11810118	G	C	11810118	2	2	6	1	0	0	0	0	0	0	0	1	10750	1074	38	2		2	NTSR2	2	11810118	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		11810118	231389255	18	1145											
DNAH6	1768	broad.mit.edu	37	chr2	84880658	84880658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaccacagtttaccgaaTactagcagaaactttaggga	8	9	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:84880658T>C	ENST00000237449.6	+	33	5302	c.5294T>C	c.(5293-5295)aTa>aCa	p.I1765T	DNAH6_ENST00000389394.3_Missense_Mutation_p.I1765T|DNAH6_ENST00000398278.2_Missense_Mutation_p.I1765T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1765	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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						GTTTACCGAATACTAGCAGAA	0.378																																					p.I1765T		.											.	DNAH6-69	0			c.T5294C						.						76	70	72					2																	84880658		692	1591	2283	SO:0001583	missense	1768	exon34			ACCGAATACTAGC	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.5294T>C	2.37:g.84880658T>C	ENSP00000237449:p.Ile1765Thr	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	140	6	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	7.708	0.694432	0.15039	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.53423	0.62;0.62;0.62	5.14	5.14	0.70334	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.25901	0.0631	N	0.03224	-0.385	0.25226	N	0.989868	B	0.09022	0.002	B	0.18263	0.021	T	0.09509	-1.0671	9	0.13853	T	0.58	.	13.9485	0.64101	0.0:0.0:0.0:1.0	.	1765	Q9C0G6	DYH6_HUMAN	T	1765	ENSP00000374045:I1765T;ENSP00000381326:I1765T;ENSP00000237449:I1765T	ENSP00000237449:I1765T	I	+	2	0	DNAH6	84734169	0.979000	0.34478	0.982000	0.44146	0.977000	0.68977	3.469000	0.53093	1.947000	0.56498	0.445000	0.29226	ATA	.		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84880658	T	C	84880658	3	2	6	1	0	0	0	0	1	0	0	0	4619	1406	49	4	5424	4	DNAH6	2	84880658	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	73070540	84880658	158318715	19	1146											
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682226	106682226	+	Silent	SNP	T	T	C													tcgcgccccgccgccatggcTgcctcccccgcgcggcctgc					rs4271786|rs543094154	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:106682226T>C	ENST00000238044.3	+	1	115	c.6T>C	c.(4-6)gcT>gcC	p.A2A	C2orf40_ENST00000489174.1_Intron|C2orf40_ENST00000409944.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	2					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CCGCCATGGCTGCCTCCCCCG	0.766													C|||	1272	0.253994	0.2753	0.1369	5008	,	,		11771	0.2411		0.2227	False		,,,				2504	0.3538				p.A2A		.											.	C2orf40-90	0			c.T6C						.	C		520,2666		23,474,1096	2	3	3		6	1	0.3	2	dbSNP_111	3	871,5647		54,763,2442	no	coding-synonymous	C2orf40	NM_032411.2		77,1237,3538	CC,CT,TT		13.363,16.3214,14.3343		2/149	106682226	1391,8313	1593	3259	4852	SO:0001819	synonymous_variant	84417	exon1			CATGGCTGCCTCC	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.6T>C	2.37:g.106682226T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			T|0.765;C|0.235		0.766	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		C	106682226	T	C	106682226	2	2	6	1	0	0	0	0	0	0	0	1	2172	1567	55	4		4	C2orf40	2	106682226	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	21801568	106682226	136517147	20	1147	11	2									
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682235	106682235	+	Silent	SNP	C	C	G													gccgccatggctgcctccccCgcgcggcctgctgtcctggc					rs4266035	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:106682235C>G	ENST00000238044.3	+	1	124	c.15C>G	c.(13-15)ccC>ccG	p.P5P	C2orf40_ENST00000489174.1_Intron|C2orf40_ENST00000409944.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	5					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTGCCTCCCCCGCGCGGCCTG	0.751													C|||	1156	0.230831	0.18	0.1239	5008	,	,		11837	0.2391		0.2187	False		,,,				2504	0.3793				p.P5P		.											.	C2orf40-90	0			c.C15G						.						2	3	3					2																	106682235		1650	3370	5020	SO:0001819	synonymous_variant	84417	exon1			CTCCCCCGCGCGG	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.15C>G	2.37:g.106682235C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			C|0.795;G|0.205		0.751	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		G	106682235	C	G	106682235	2	3	6	1	0	0	0	0	0	0	0	1	2172	639	23	2		2	C2orf40	2	106682235	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	9	106682235	136517138	21	1148	11	2									
SH3RF3	344558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	110053528	110053528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcccagcaccccacagcctCgcccccaacaggcagctgtc	8	22	0	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:110053528C>G	ENST00000309415.6	+	7	1754	c.1754C>G	c.(1753-1755)tCg>tGg	p.S585W		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	585							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCCACAGCCTCGCCCCCAACA	0.682																																					p.S585W		.											.	SH3RF3-24	0			c.C1754G						.						28	43	38					2																	110053528		2117	4210	6327	SO:0001583	missense	344558	exon7			CAGCCTCGCCCCC	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1754C>G	2.37:g.110053528C>G	ENSP00000309186:p.Ser585Trp	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	259	53	NM_001099289	0	0	2	3	1	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.231863	0.58777	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.59906	0.23;2.01	5.69	4.81	0.61882	.	0.320683	0.33959	N	0.004395	T	0.75273	0.3827	.	.	.	0.35015	D	0.757326	D	0.89917	1.0	D	0.87578	0.998	D	0.84128	0.0410	9	0.87932	D	0	-9.5173	12.852	0.57862	0.0:0.9246:0.0:0.0754	.	585	Q8TEJ3	SH3R3_HUMAN	W	585	ENSP00000414997:S585W;ENSP00000309186:S585W	ENSP00000309186:S585W	S	+	2	0	SH3RF3	109419960	0.962000	0.33011	0.008000	0.14137	0.926000	0.56050	4.890000	0.63178	1.399000	0.46721	0.650000	0.86243	TCG	.		0.682	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		G	110053528	C	G	110053528	3	3	6	1	0	0	0	0	1	0	0	0	14305	893	31	2	1780	2	SH3RF3	2	110053528	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	3371293	110053528	133145845	22	1149											
TMEM177	80775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	120439176	120439176	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctgtggtggagtggagttCtatgagaagcttctgtcggg	17	6	2	1	rs374882180		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:120439176C>G	ENST00000424086.1	+	2	1220	c.747C>G	c.(745-747)ttC>ttG	p.F249L	TMEM177_ENST00000272521.6_Missense_Mutation_p.F249L|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.F249L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	249						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)					GAGTGGAGTTCTATGAGAAGC	0.607																																					p.F249L		.											.	TMEM177-91	0			c.C747G						.						58	53	55					2																	120439176		2203	4300	6503	SO:0001583	missense	80775	exon2			GGAGTTCTATGAG	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.747C>G	2.37:g.120439176C>G	ENSP00000402661:p.Phe249Leu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	170	30	NM_001105198	0	0	5	7	2	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118094	0.77323	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.41065	1.01;1.01;1.01	4.81	3.92	0.45320	.	0.108654	0.64402	D	0.000005	T	0.60907	0.2305	M	0.81341	2.54	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.64198	-0.6464	10	0.87932	D	0	-4.1449	6.727	0.23363	0.0:0.8014:0.0:0.1986	.	249	Q53S58	TM177_HUMAN	L	249;249;249;216	ENSP00000385966:F249L;ENSP00000402661:F249L;ENSP00000272521:F249L	ENSP00000272521:F249L	F	+	3	2	TMEM177	120155646	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.890000	0.28295	2.402000	0.81655	0.549000	0.68633	TTC	.		0.607	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		G	120439176	C	G	120439176	3	3	6	1	0	0	0	0	1	0	0	0	16141	912	32	3	749	3	TMEM177	2	120439176	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	10385648	120439176	122760197	23	1150											
SCN2A	6326	ucsc.edu;bcgsc.ca	37	chr2	166201291	166201291	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgcatgactttttccActccttcctgatcgtgttcc	6	14	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:166201291A>T	ENST00000375437.2	+	16	3079	c.2789A>T	c.(2788-2790)cAc>cTc	p.H930L	SCN2A_ENST00000283256.6_Missense_Mutation_p.H930L|SCN2A_ENST00000375427.2_Missense_Mutation_p.H930L|SCN2A_ENST00000357398.3_Missense_Mutation_p.H930L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	930					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)	GACTTTTTCCACTCCTTCCTG	0.507																																					p.H930L		.											.	SCN2A-142	0			c.A2789T						.						256	224	235					2																	166201291		2203	4300	6503	SO:0001583	missense	6326	exon15			TTTTCCACTCCTT	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.2789A>T	2.37:g.166201291A>T	ENSP00000364586:p.His930Leu	Somatic	458	4		WXS	Illumina GAIIx	Phase_I	660	141	NM_001040143	0	0	2	2	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919579	0.92249	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98814	0.9600	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.992;0.999	D	0.99864	1.1087	10	0.87932	D	0	.	15.4924	0.75619	1.0:0.0:0.0:0.0	.	930;930	Q99250-2;Q99250	.;SCN2A_HUMAN	L	930	ENSP00000364586:H930L;ENSP00000349973:H930L;ENSP00000283256:H930L;ENSP00000364576:H930L	ENSP00000283256:H930L	H	+	2	0	SCN2A	165909537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.194000	0.94962	2.057000	0.61298	0.528000	0.53228	CAC	.		0.507	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166201291	A	T	166201291	3	4	6	1	0	0	0	0	1	0	0	0	13961	159	6	5	2943	5	SCN2A	2	166201291	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	45762115	166201291	76998082	24	1151											
LRP2	4036	bcgsc.ca	37	chr2	170032989	170032989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggtgctgccactcagCtgaagggtgcggaagtcatc	14	10	2	1	rs2229265	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr2:170032989C>T	ENST00000263816.3	-	54	10788	c.10503G>A	c.(10501-10503)caG>caA	p.Q3501Q	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3501	EGF-like 13. {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)"	TGCCACTCAGCTGAAGGGTGC	0.542													C|||	1901	0.379593	0.2995	0.6268	5008	,	,		19364	0.1062		0.496	False		,,,				2504	0.4744				p.Q3501Q		.											.	LRP2-175	0			c.G10503A						.	C		1420,2986	463.6+/-353.6	224,972,1007	163	122	136		10503	-11.9	0	2	dbSNP_98	136	4451,4149	588.3+/-392.3	1170,2111,1019	no	coding-synonymous	LRP2	NM_004525.2		1394,3083,2026	TT,TC,CC		48.2442,32.2288,45.1407		3501/4656	170032989	5871,7135	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon54			ACTCAGCTGAAGG		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.10503G>A	2.37:g.170032989C>T		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	229	7	NM_004525	0	0	0	0	0	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			T|0.264;G|0.268		0.542	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170032989	C	T	170032989	2	4	6	1	0	0	0	0	0	0	0	1	8991	796	28	3		3	LRP2	2	170032989	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	3831698	170032989	73166384	25	1152											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																							.											.	CACNA1D-100	0									.																																			SO:0001582	initiator_codon_variant	776	wholegene			TTCGTGGATGATG	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		3.37:g.53529202_53529204delGAT		Somatic	272	0		WXS	Illumina GAIIx	Phase_I	461	8	NM_001128840	0	0	0	0	0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	ENST00000350061.5	37	CCDS46848.1																																																																																			.		0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		-	53529195	GAT	-	53529193	7	5	6	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-OR-A5J6-01A-31D-A29I-10		53529193	144493237	26	1153											
PPP4R2	151987	broad.mit.edu;bcgsc.ca	37	chr3	73096477	73096477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctttgatgaaatgaaggaaaGaatactgaaaattgtcactg	9	4	1	5			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:73096477G>C	ENST00000356692.5	+	3	510	c.257G>C	c.(256-258)aGa>aCa	p.R86T	PPP4R2_ENST00000295862.9_Missense_Mutation_p.R30T|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	86					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ATGAAGGAAAGAATACTGAAA	0.343																																					p.R86T		.											.	PPP4R2-227	0			c.G257C						.						74	80	78					3																	73096477		2203	4300	6503	SO:0001583	missense	151987	exon3			AGGAAAGAATACT	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.257G>C	3.37:g.73096477G>C	ENSP00000349124:p.Arg86Thr	Somatic	316	0		WXS	Illumina GAIIx	Phase_I	281	9	NM_174907	0	0	11	13	2	A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483691	0.84854	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000295862;ENST00000476505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71170	-0.4671	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	86	Q9NY27	PP4R2_HUMAN	T	86;86;30;48	ENSP00000349124:R86T;ENSP00000418750:R86T;ENSP00000295862:R30T;ENSP00000420098:R48T	ENSP00000295862:R30T	R	+	2	0	PPP4R2	73179167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.700000	0.98707	2.576000	0.86940	0.557000	0.71058	AGA	.		0.343	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		C	73096477	G	C	73096477	3	2	6	1	0	0	0	0	1	0	0	0	12446	942	33	3	267	3	PPP4R2	3	73096477	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	19567284	73096477	124925953	27	1154											
MUC13	56667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	124629329	124629329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggtgcccacaatagTgaggatcagctgaaattctg	12	8	2	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:124629329T>C	ENST00000311075.3	-	10	1305	c.1267A>G	c.(1267-1269)Act>Gct	p.T423A		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	424					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CCCACAATAGTGAGGATCAGC	0.428																																					p.T423A		.											.	MUC13-90	0			c.A1267G						.						77	70	72					3																	124629329		2203	4300	6503	SO:0001583	missense	56667	exon10			CAATAGTGAGGAT	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1267A>G	3.37:g.124629329T>C	ENSP00000312235:p.Thr423Ala	Somatic	226	0		WXS	Illumina GAIIx	Phase_I	143	35	NM_033049	0	0	0	0	0	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	T	16.71	3.199582	0.58126	.	.	ENSG00000173702	ENST00000311075	T	0.17528	2.27	5.19	5.19	0.71726	.	0.114787	0.40064	N	0.001191	T	0.36441	0.0967	L	0.61218	1.895	0.30797	N	0.740326	D	0.76494	0.999	D	0.80764	0.994	T	0.29912	-0.9996	10	0.44086	T	0.13	-27.6004	11.6395	0.51224	0.0:0.0:0.0:1.0	.	423	Q9H3R2	MUC13_HUMAN	A	423	ENSP00000312235:T423A	ENSP00000312235:T423A	T	-	1	0	MUC13	126112019	1.000000	0.71417	0.969000	0.41365	0.443000	0.32047	3.340000	0.52143	2.317000	0.78254	0.460000	0.39030	ACT	.		0.428	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		C	124629329	T	C	124629329	3	2	6	1	0	0	0	0	1	0	0	0	10009	1696	59	4	276	4	MUC13	3	124629329	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	51532852	124629329	73393101	28	1155											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733329	126733329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctccctcagctgtccccCgagacgggcccgaggcaggg	14	17	1	1	rs80308004	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:126733329C>T	ENST00000393409.2	+	12	2613	c.2613C>T	c.(2611-2613)ccC>ccT	p.P871P	PLXNA1_ENST00000251772.4_Silent_p.P848P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	871	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCTGTCCCCCGAGACGGGCC	0.711													C|||	202	0.0403355	0.1415	0.0216	5008	,	,		11478	0		0	False		,,,				2504	0				p.P871P		.											.	PLXNA1-93	0			c.C2613T						.	C		536,3866		30,476,1695	24	29	27		2613	-7	1	3	dbSNP_131	27	5,8589		0,5,4292	no	coding-synonymous	PLXNA1	NM_032242.3		30,481,5987	TT,TC,CC		0.0582,12.1763,4.1628		871/1897	126733329	541,12455	2201	4297	6498	SO:0001819	synonymous_variant	5361	exon12			GTCCCCCGAGACG	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2613C>T	3.37:g.126733329C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	7	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.959;T|0.041		0.711	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733329	C	T	126733329	2	4	6	1	0	0	0	0	0	0	0	1	12158	639	23	1		1	PLXNA1	3	126733329	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	2104000	126733329	71289101	29	1156											
RAB43	339122	hgsc.bcm.edu	37	chr3	128840321	128840321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccccgggcctgggccCggccctgccatggcctagaa	15	17	0	1	rs76233276	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:128840321C>T	ENST00000315150.5	-	1	312	c.12G>A	c.(10-12)ccG>ccA	p.P4P	RAB43_ENST00000393304.1_Silent_p.P4P|RP11-434H6.6_ENST00000608909.1_RNA|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Silent_p.P4P|RAB43_ENST00000393305.1_Silent_p.P4P|RAB43_ENST00000476465.1_Silent_p.P4P|RAB43_ENST00000393308.1_Silent_p.P4P	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	4					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GGCCTGGGCCCGGCCCTGCCA	0.711													C|||	331	0.0660942	0.0885	0.0115	5008	,	,		8035	0.1022		0.005	False		,,,				2504	0.1002				p.P4P		.											.	RAB43-369	0			c.G12A						.	C	,,,,,,,	348,4044		14,320,1862	10	12	11		12,12,12,12,12,12,,12	1.9	1	3	dbSNP_131	11	9,8573		0,9,4282	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	RAB43,ISY1-RAB43	NM_001204883.1,NM_001204884.1,NM_001204885.1,NM_001204886.1,NM_001204887.1,NM_001204888.1,NM_001204890.1,NM_198490.2	,,,,,,,	14,329,6144	TT,TC,CC		0.1049,7.9235,2.7517	,,,,,,,	4/213,4/213,4/213,4/213,4/156,4/109,,4/213	128840321	357,12617	2196	4291	6487	SO:0001819	synonymous_variant	339122	exon2			TGGGCCCGGCCCT	AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.12G>A	3.37:g.128840321C>T		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	41	7	NM_001204886	0	0	0	0	0	A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	CCDS33850.1																																																																																			C|0.954;T|0.046		0.711	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		T	128840321	C	T	128840321	2	4	6	1	0	0	0	0	0	0	0	1	12990	639	23	1		1	RAB43	3	128840321	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	2106992	128840321	69182109	30	1157											
MYNN	55892	bcgsc.ca	37	chr3	169492101	169492101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgcagtattcgcaccaCtgtgagcaccttttagagag	9	9	0	2	rs10936599	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:169492101C>T	ENST00000349841.5	+	2	681	c.18C>T	c.(16-18)caC>caT	p.H6H	MYNN_ENST00000356716.4_Silent_p.H6H|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Silent_p.H6H|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000544106.1_Silent_p.H6H	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	6					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)			ATTCGCACCACTGTGAGCACC	0.393													C|||	1355	0.270567	0.0371	0.3545	5008	,	,		21836	0.5784		0.2425	False		,,,				2504	0.2382				p.H6H		.											.	MYNN-91	0			c.C18T						.	C	,,	305,4101	164.0+/-195.7	5,295,1903	172	165	168	http://www.ncbi.nlm.nih.gov/pubmed?term	18,18,18	3.9	1	3	dbSNP_120	168	2128,6472	366.6+/-334.4	279,1570,2451	yes	coding-synonymous,coding-synonymous,coding-synonymous	MYNN	NM_001185118.1,NM_001185119.1,NM_018657.4	,,	284,1865,4354	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	24.7442,6.9224,18.7068	,,	6/611,6/582,6/611	169492101	2433,10573	2203	4300	6503	SO:0001819	synonymous_variant	55892	exon3			GCACCACTGTGAG	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.18C>T	3.37:g.169492101C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	104	5	NM_001185118	0	0	8	8	0	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	ENST00000349841.5	37	CCDS3207.1																																																																																			C|0.763;T|0.237		0.393	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		T	169492101	C	T	169492101	2	4	6	1	0	0	0	0	0	0	0	1	10099	564	20	3		3	MYNN	3	169492101	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	40651780	169492101	28530329	31	1158											
KCNMB2	10242	bcgsc.ca	37	chr3	178546026	178546026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcacggaaacatttaaTtgctccttcagctgtggtcc	7	12	2	0	rs9831934	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:178546026T>C	ENST00000432997.1	+	4	640	c.288T>C	c.(286-288)aaT>aaC	p.N96N	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.N96N|KCNMB2_ENST00000358316.3_Silent_p.N96N|KCNMB2_ENST00000452583.1_Silent_p.N96N	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	108					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	AAACATTTAATTGCTCCTTCA	0.522													T|||	2919	0.582867	0.9289	0.5245	5008	,	,		20296	0.2252		0.5825	False		,,,				2504	0.5256				p.N96N		.											.	KCNMB2-91	0			c.T288C						.	T	,	3833,573	773.0+/-413.9	1669,495,39	140	117	125		288,288	-4.7	1	3	dbSNP_119	125	5039,3561	629.7+/-398.3	1511,2017,772	no	coding-synonymous,coding-synonymous	KCNMB2	NM_005832.3,NM_181361.1	,	3180,2512,811	CC,CT,TT		41.407,13.005,31.7853	,	96/236,96/236	178546026	8872,4134	2203	4300	6503	SO:0001819	synonymous_variant	10242	exon5			ATTTAATTGCTCC	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.288T>C	3.37:g.178546026T>C		Somatic	131	1		WXS	Illumina GAIIx	Phase_I	128	5	NM_005832	0	0	0	0	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	CCDS3223.1																																																																																			T|0.360;C|0.640		0.522	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		C	178546026	T	C	178546026	2	2	6	1	0	0	0	0	0	0	0	1	8102	1490	52	4		4	KCNMB2	3	178546026	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	9053925	178546026	19476404	32	1159											
HRG	3273	bcgsc.ca	37	chr3	186395436	186395436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccaggtaaaggacccCgtcccttccattgcagacaa	10	14	0	1	rs1042445	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:186395436C>T	ENST00000232003.4	+	7	1422	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	448	His/Pro-rich (HRR).		R -> C (in dbSNP:rs1042445).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TAAAGGACCCCGTCCCTTCCA	0.567													C|||	1368	0.273163	0.2428	0.2752	5008	,	,		17691	0.2847		0.2455	False		,,,				2504	0.3292				p.R448C		.											.	HRG-91	0			c.C1342T						.	C	CYS/ARG	1101,3305	396.5+/-330.1	140,821,1242	79	76	77		1342	2.3	0	3	dbSNP_86	77	1955,6645	344.0+/-325.1	202,1551,2547	yes	missense	HRG	NM_000412.2	180	342,2372,3789	TT,TC,CC		22.7326,24.9887,23.4968	benign	448/526	186395436	3056,9950	2203	4300	6503	SO:0001583	missense	3273	exon7			GGACCCCGTCCCT		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1342C>T	3.37:g.186395436C>T	ENSP00000232003:p.Arg448Cys	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	150	7	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	588	0.2692307692307692	137	0.2784552845528455	96	0.26519337016574585	165	0.28846153846153844	190	0.25065963060686014	C	2.396	-0.338783	0.05243	0.249887	0.227326	ENSG00000113905	ENST00000232003	T	0.11277	2.79	4.94	2.35	0.29111	.	0.755923	0.11783	N	0.529939	T	0.00012	0.0000	N	0.03608	-0.345	0.58432	P	1.0000000000287557E-6	B	0.06786	0.001	B	0.01281	0.0	T	0.46884	-0.9159	9	0.38643	T	0.18	-1.9829	6.7873	0.23679	0.0:0.197:0.0:0.803	rs1042445;rs3181923;rs52832999;rs60599328;rs1042445	448	P04196	HRG_HUMAN	C	448	ENSP00000232003:R448C	ENSP00000232003:R448C	R	+	1	0	HRG	187878130	0.000000	0.05858	0.037000	0.18230	0.001000	0.01503	-0.431000	0.06965	0.430000	0.26230	-0.474000	0.04947	CGT	C|0.751;T|0.249		0.567	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		T	186395436	C	T	186395436	3	4	6	1	0	0	0	0	1	0	0	0	7381	652	23	1	1368	1	HRG	3	186395436	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	7849410	186395436	11626994	33	1160											
MUC4	4585	bcgsc.ca	37	chr3	195477786	195477786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcgcgcacgtcttccCcggagatgggctggaagacc	12	14	2	2	rs6808605	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr3:195477786C>T	ENST00000346145.4	-	22	3176	c.3137G>A	c.(3136-3138)gGg>gAg	p.G1046E	MUC4_ENST00000475231.1_Missense_Mutation_p.G5230E|MUC4_ENST00000463781.3_Missense_Mutation_p.G5282E|MUC4_ENST00000349607.4_Missense_Mutation_p.G995E	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2039					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACGTCTTCCCCGGAGATGGG	0.637													.|||	302	0.0603035	0.0348	0.0764	5008	,	,		12146	0.001		0.1451	False		,,,				2504	0.0573				p.G5282E		.											.	MUC4-90	0			c.G15845A						.	C	GLU/GLY,GLU/GLY,GLU/GLY	173,4233	113.8+/-151.8	2,169,2032	60	54	56		2984,15845,3137	1.3	0	3	dbSNP_116	56	1144,7456	233.5+/-266.7	48,1048,3204	no	missense,missense,missense	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	98,98,98	50,1217,5236	TT,TC,CC		13.3023,3.9265,10.1261	benign,benign,benign	995/1126,5282/5413,1046/1177	195477786	1317,11689	2203	4300	6503	SO:0001583	missense	4585	exon23			TCTTCCCCGGAGA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3137G>A	3.37:g.195477786C>T	ENSP00000304207:p.Gly1046Glu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	132	5	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	CCDS3310.1	159	0.07280219780219781	24	0.04878048780487805	34	0.09392265193370165	0	0.0	101	0.13324538258575197	c	12.45	1.940731	0.34283	0.039265	0.133023	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.35973	1.28;1.64;1.58;1.58	5.15	1.33	0.21861	.	0.251261	0.28665	N	0.014546	T	0.00144	0.0004	N	0.08118	0	0.80722	P	0.0	B;B;B;B;B;B	0.31054	0.011;0.094;0.094;0.0;0.0;0.306	B;B;B;B;B;B	0.26693	0.002;0.031;0.031;0.0;0.0;0.072	T	0.27123	-1.0083	9	0.19590	T	0.45	-6.8799	7.6814	0.28515	0.0:0.6424:0.0:0.3576	rs6808605	5154;995;1046;5282;5230;1987	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	E	995;1046;5282;5230;1782	ENSP00000338109:G995E;ENSP00000304207:G1046E;ENSP00000417498:G5282E;ENSP00000420243:G5230E	ENSP00000304207:G1046E	G	-	2	0	MUC4	196963457	0.011000	0.17503	0.005000	0.12908	0.069000	0.16628	0.160000	0.16462	0.208000	0.20626	-0.234000	0.12200	GGG	C|0.901;T|0.099		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195477786	C	T	195477786	3	4	6	1	0	0	0	0	1	0	0	0	10016	623	22	3	405	3	MUC4	3	195477786	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	9082350	195477786	2544644	34	1161											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389192	1389192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcacacgtgcccatgtggAgtgcccgcctgctcacacgt	11	16	2	0	rs146804633	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:1389192A>G	ENST00000324803.4	+	1	3853	c.893A>G	c.(892-894)gAg>gGg	p.E298G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	298					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGCCCGCCT	0.682													A|||	46	0.0091853	0.0212	0.0072	5008	,	,		14642	0		0.005	False		,,,				2504	0.0082				p.E298G		.											.	CRIPAK-90	0			c.A893G						.						128	132	131					4																	1389192		2202	4298	6500	SO:0001583	missense	285464	exon1			ATGTGGAGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.893A>G	4.37:g.1389192A>G	ENSP00000323978:p.Glu298Gly	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	42	12	NM_175918	0	0	51	61	10	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303322	0.05495	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19532	2.14	0.815	-1.63	0.08345	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.23797	-1.0178	9	0.51188	T	0.08	.	2.8991	0.05700	0.2283:0.0:0.4427:0.329	.	298	Q8N1N5	CRPAK_HUMAN	G	298;240	ENSP00000323978:E298G	ENSP00000323978:E298G	E	+	2	0	CRIPAK	1379192	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.016000	0.13377	-1.564000	0.01678	-0.530000	0.04314	GAG	A|0.995;G|0.005		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389192	A	G	1389192	3	3	6	1	0	0	0	0	1	0	0	0	3884	304	11	4	895	4	CRIPAK	4	1389192	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10		1389192	189765084	35	1162											
HGFAC	3083	hgsc.bcm.edu	37	chr4	3446682	3446682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtggactccgtgggcgcCgcggccctgctgggcctggg	18	15	0	0	rs144021102	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:3446682C>T	ENST00000382774.3	+	8	1093	c.978C>T	c.(976-978)gcC>gcT	p.A326A	HGFAC_ENST00000511533.1_Silent_p.A326A	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	326	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A326A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGTGGGCGCCGCGGCCCTGC	0.716													C|||	50	0.00998403	0	0	5008	,	,		15116	0.0486		0	False		,,,				2504	0.001				p.A326A		.											.	HGFAC-514	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C978T						.	C		3,4373		0,3,2185	15	17	16		978	-2.6	0.9	4	dbSNP_134	16	0,8574		0,0,4287	no	coding-synonymous	HGFAC	NM_001528.2		0,3,6472	TT,TC,CC		0.0,0.0686,0.0232		326/656	3446682	3,12947	2188	4287	6475	SO:0001819	synonymous_variant	3083	exon8			GGGCGCCGCGGCC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.978C>T	4.37:g.3446682C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	17	NM_001528	0	0	1	1	0	Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	CCDS3369.1																																																																																			C|0.997;T|0.003		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			T	3446682	C	T	3446682	2	4	6	1	0	0	0	0	0	0	0	1	7113	639	23	1		1	HGFAC	4	3446682	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	2057490	3446682	187707594	36	1163											
MAN2B2	23324	broad.mit.edu	37	chr4	6621656	6621656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctctccctgcaggcTgtgctgcaggcgctggggtc	14	15	1	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:6621656T>C	ENST00000285599.3	+	18	2853	c.2817T>C	c.(2815-2817)gcT>gcC	p.A939A	MAN2B2_ENST00000504248.1_Silent_p.A888A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	939					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCCTGCAGGCTGTGCTGCAGG	0.642																																					p.A939A		.											.	MAN2B2-92	0			c.T2817C						.						53	60	58					4																	6621656		2203	4300	6503	SO:0001819	synonymous_variant	23324	exon18			GCAGGCTGTGCTG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2817T>C	4.37:g.6621656T>C		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	101	4	NM_015274	0	0	3	3	0	Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	CCDS33951.1																																																																																			.		0.642	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		C	6621656	T	C	6621656	2	2	6	1	0	0	0	0	0	0	0	1	9255	1567	55	4		4	MAN2B2	4	6621656	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	3174974	6621656	184532620	37	1164											
TBC1D1	23216	bcgsc.ca	37	chr4	37904089	37904089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggaagacgctgtccacCggcagagtatctgctatgtg	12	9	1	2	rs35859249	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:37904089C>T	ENST00000261439.4	+	2	728	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBC1D1_ENST00000402522.1_Missense_Mutation_p.R125W|TBC1D1_ENST00000508802.1_Missense_Mutation_p.R125W	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	125			R -> W (may be associated with risk of familial obesity; dbSNP:rs35859249). {ECO:0000269|PubMed:16893906, ECO:0000269|PubMed:18325908}.		membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCTGTCCACCGGCAGAGTAT	0.438													C|||	422	0.0842652	0.0136	0.0648	5008	,	,		19784	0.124		0.1004	False		,,,				2504	0.136				p.R125W		.											.	TBC1D1-91	0			c.C373T	GRCh37	CM064293	TBC1D1	M	rs35859249	.	C	TRP/ARG	130,4276	91.6+/-130.3	4,122,2077	76	77	77	http://omim.org/entry/608410	373	3.2	0	4	dbSNP_126	77	831,7769	189.1+/-236.0	41,749,3510	yes	missense	TBC1D1	NM_015173.2	101	45,871,5587	TT,TC,CC		9.6628,2.9505,7.3889	probably-damaging	125/1169	37904089	961,12045	2203	4300	6503	SO:0001583	missense	23216	exon2			GTCCACCGGCAGA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.373C>T	4.37:g.37904089C>T	ENSP00000261439:p.Arg125Trp	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	107	6	NM_015173	0	0	1	1	0	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	176	0.08058608058608059	5	0.01016260162601626	23	0.06353591160220995	68	0.11888111888111888	80	0.10554089709762533	C	15.27	2.783590	0.49891	0.029505	0.096628	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.23950	3.59;3.98;1.88	6.07	3.15	0.36227	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	1.202460	0.06320	N	0.704358	T	0.00300	0.0009	N	0.08118	0	0.44275	P	0.0028650000000000064	D;D	0.63046	0.992;0.958	B;P	0.44860	0.332;0.462	T	0.35822	-0.9773	9	0.66056	D	0.02	-6.0566	15.2101	0.73214	0.4489:0.5511:0.0:0.0	rs35859249;rs61752237	125;125	E9PGH8;Q86TI0	.;TBCD1_HUMAN	W	125	ENSP00000423651:R125W;ENSP00000261439:R125W;ENSP00000383994:R125W	ENSP00000261439:R125W	R	+	1	2	TBC1D1	37580484	0.002000	0.14202	0.005000	0.12908	0.417000	0.31264	0.851000	0.27751	0.271000	0.22005	0.585000	0.79938	CGG	C|0.922;T|0.078		0.438	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	37904089	C	T	37904089	3	4	6	1	0	0	0	0	1	0	0	0	15644	643	23	1	375	1	TBC1D1	4	37904089	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	31282433	37904089	153250187	38	1165											
ADAMTS3	9508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	73280551	73280551	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctgtagtggaagtctttGgacatgtctatgggagcctg	13	8	3	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:73280551G>C	ENST00000286657.4	-	4	678	c.642C>G	c.(640-642)tcC>tcG	p.S214S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	214					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAAGTCTTTGGACATGTCTA	0.383																																					p.S214S	NSCLC(168;1941 2048 2918 13048 43078)	.											.	ADAMTS3-651	0			c.C642G						.						151	141	145					4																	73280551		2203	4300	6503	SO:0001819	synonymous_variant	9508	exon4			GTCTTTGGACATG	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.642C>G	4.37:g.73280551G>C		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	97	17	NM_014243	0	0	0	0	0	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																			.		0.383	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			C	73280551	G	C	73280551	2	2	6	1	0	0	0	0	0	0	0	1	267	1335	47	3		3	ADAMTS3	4	73280551	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	35376462	73280551	117873725	39	1166											
MTHFD2L	441024	broad.mit.edu;bcgsc.ca	37	chr4	75066988	75066988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattttaaggaattcaaAcatttggaaaaaatgtggtt	8	3	1	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:75066988A>G	ENST00000395759.2	+	5	640	c.613A>G	c.(613-615)Aca>Gca	p.T205A	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.T147A|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.T70A|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.T147A	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	205					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGGAATTCAAACATTTGGAAA	0.373																																					p.T205A		.											.	MTHFD2L-91	0			c.A613G						.						83	82	83					4																	75066988		2203	4300	6503	SO:0001583	missense	441024	exon5			ATTCAAACATTTG	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.613A>G	4.37:g.75066988A>G	ENSP00000379108:p.Thr205Ala	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	125	6	NM_001144978	0	0	0	0	0	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117464	0.77323	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.97	5.97	0.96955	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.043113	0.85682	D	0.000000	T	0.74550	0.3731	M	0.91663	3.23	0.53688	D	0.999975	P;D	0.52996	0.927;0.957	P;P	0.57846	0.679;0.828	T	0.79855	-0.1627	10	0.54805	T	0.06	-22.5925	14.4055	0.67079	1.0:0.0:0.0:0.0	.	205;147	Q9H903;Q9H903-3	MTD2L_HUMAN;.	A	70;205;147;147;147	ENSP00000405692:T70A;ENSP00000379108:T205A;ENSP00000330982:T147A;ENSP00000352012:T147A;ENSP00000321984:T147A	ENSP00000321984:T147A	T	+	1	0	MTHFD2L	75285852	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	8.810000	0.91950	2.285000	0.76669	0.477000	0.44152	ACA	.		0.373	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		G	75066988	A	G	75066988	3	3	6	1	0	0	0	0	1	0	0	0	9968	43	2	4	631	4	MTHFD2L	4	75066988	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	1786437	75066988	116087288	40	1167											
ANAPC10	10393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	145916557	145916557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatacatcatgaaatctaTagttgtacatctaggaaatt	6	6	3	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr4:145916557T>C	ENST00000507656.1	-	5	619	c.526A>G	c.(526-528)Ata>Gta	p.I176V	ANAPC10_ENST00000309439.5_Missense_Mutation_p.I176V|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.I176V	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	176	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				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)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					ATGAAATCTATAGTTGTACAT	0.313																																					p.I187V		.											.	ANAPC10-650	0			c.A559G						.						123	119	121					4																	145916557		1813	4076	5889	SO:0001583	missense	10393	exon7			AATCTATAGTTGT	AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"Anaphase promoting complex subunits"	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.526A>G	4.37:g.145916557T>C	ENSP00000423995:p.Ile176Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	47	12	NM_001256709	0	0	8	14	6	D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	T	4.012	-0.000441	0.07819	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299	T;T;T	0.70631	-0.5;-0.5;-0.5	5.82	5.82	0.92795	Anaphase-promoting complex, subunit 10/DOC domain (2);	0.049797	0.85682	D	0.000000	T	0.45637	0.1352	N	0.03000	-0.44	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44190	-0.9344	10	0.23891	T	0.37	-17.9681	12.01	0.53282	0.0:0.069:0.0:0.9309	.	176	Q9UM13	APC10_HUMAN	V	176	ENSP00000423995:I176V;ENSP00000310071:I176V;ENSP00000403891:I176V	ENSP00000310071:I176V	I	-	1	0	ANAPC10	146136007	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.842000	0.62831	2.229000	0.72834	0.397000	0.26171	ATA	.		0.313	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885		C	145916557	T	C	145916557	3	2	6	1	0	0	0	0	1	0	0	0	599	1406	49	4	35	4	ANAPC10	4	145916557	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	70849569	145916557	45237719	41	1168											
ZDHHC11	79844	broad.mit.edu	37	chr5	825360	825360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagggagctcttggcTttgactctggtgggacagaa	14	8	3	2	rs201174878		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	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		.											.	ZDHHC11-92	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		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	212	9	NM_024786	0	0	0	0	0	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	6	1	0	0	0	0	0	0	0	1	17649	1606	56	4		4	ZDHHC11	5	825360	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10		825360	180089900	42	1169											
C5orf38	153571	hgsc.bcm.edu	37	chr5	2752393	2752393	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggatggtggcgcccgcGgctcgggtcttcctccgggc	17	14	2	0	rs185444055	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:2752393G>C	ENST00000334000.3	+	1	132	c.15G>C	c.(13-15)gcG>gcC	p.A5A	IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Silent_p.A5A|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000505778.1_Silent_p.A5A|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Silent_p.A5A|C5orf38_ENST00000515640.1_Silent_p.A5A	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	5						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGGCGCCCGCGGCTCGGGTCT	0.726													G|||	64	0.0127796	0.0454	0.0058	5008	,	,		8588	0		0	False		,,,				2504	0				p.A5A		.											.	C5orf38-226	0			c.G15C						.	G		89,4097		1,87,2005	7	11	9		15	-0.9	0	5		9	0,8364		0,0,4182	no	coding-synonymous	C5orf38	NM_178569.2		1,87,6187	CC,CG,GG		0.0,2.1261,0.7092		5/139	2752393	89,12461	2093	4182	6275	SO:0001819	synonymous_variant	153571	exon1			GCCCGCGGCTCGG	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.15G>C	5.37:g.2752393G>C		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	67	37	NM_178569	0	0	0	0	0		Silent	SNP	ENST00000334000.3	37	CCDS34131.1																																																																																			G|0.990;C|0.010		0.726	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		C	2752393	G	C	2752393	2	2	6	1	0	0	0	0	0	0	0	1	2303	1103	39	2		2	C5orf38	5	2752393	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	1927033	2752393	178162867	43	1170											
OTP	23440	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	76932656	76932656	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccctcgtacctgcactcggGactcggtcagcccgatacgc	10	18	1	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:76932656G>C	ENST00000306422.3	-	2	1575	c.437C>G	c.(436-438)tCc>tGc	p.S146C	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	146					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CTGCACTCGGGACTCGGTCAG	0.612																																					p.S146C		.											.	OTP-69	0			c.C437G						.						69	66	67					5																	76932656		2203	4300	6503	SO:0001583	missense	23440	exon2			ACTCGGGACTCGG		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.437C>G	5.37:g.76932656G>C	ENSP00000302814:p.Ser146Cys	Somatic	149	2		WXS	Illumina GAIIx	Phase_I	218	45	NM_032109	0	0	0	0	0		Missense_Mutation	SNP	ENST00000306422.3	37	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479156	0.84747	.	.	ENSG00000171540	ENST00000306422	D	0.96427	-4.01	5.21	5.21	0.72293	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	M	0.68728	2.09	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.98444	1.0588	10	0.72032	D	0.01	.	18.712	0.91661	0.0:0.0:1.0:0.0	.	146	Q5XKR4	OTP_HUMAN	C	146	ENSP00000302814:S146C	ENSP00000302814:S146C	S	-	2	0	OTP	76968412	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.717000	0.98755	2.597000	0.87782	0.655000	0.94253	TCC	.		0.612	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			C	76932656	G	C	76932656	3	2	6	1	0	0	0	0	1	0	0	0	11349	1174	41	3	548	3	OTP	5	76932656	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	74180263	76932656	103982604	44	1171											
ADAMTS19	171019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	128864313	128864313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatatacatttagagaTgtcaacaaactggggggaag	12	4	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:128864313T>A	ENST00000274487.4	+	6	1398	c.1253T>A	c.(1252-1254)aTg>aAg	p.M418K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	418	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CATTTAGAGATGTCAACAAAC	0.353																																					p.M418K		.											.	ADAMTS19-295	0			c.T1253A						.						100	103	102					5																	128864313		2203	4300	6503	SO:0001583	missense	171019	exon6			TAGAGATGTCAAC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1253T>A	5.37:g.128864313T>A	ENSP00000274487:p.Met418Lys	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	173	30	NM_133638	0	0	0	0	0		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.910446	0.33721	.	.	ENSG00000145808	ENST00000274487	D	0.85955	-2.05	4.06	4.06	0.47325	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.183165	0.42172	D	0.000750	T	0.70386	0.3218	N	0.08118	0	0.53688	D	0.999972	B	0.28933	0.228	B	0.30251	0.113	T	0.67452	-0.5667	9	.	.	.	.	14.062	0.64806	0.0:0.0:0.0:1.0	.	418	Q8TE59	ATS19_HUMAN	K	418	ENSP00000274487:M418K	.	M	+	2	0	ADAMTS19	128892212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.533000	0.67160	2.049000	0.60858	0.533000	0.62120	ATG	.		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	128864313	T	A	128864313	3	1	6	1	0	0	0	0	1	0	0	0	264	1464	51	5	1275	5	ADAMTS19	5	128864313	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	51931657	128864313	52050947	45	1172											
NRG2	9542	hgsc.bcm.edu	37	chr5	139422602	139422602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctgtagctgctgcacCgacccttctccagtggcggc	12	15	1	0	rs188534354	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:139422602C>T	ENST00000361474.1	-	1	277	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	NRG2_ENST00000289422.7_Missense_Mutation_p.R18Q|NRG2_ENST00000545385.1_Missense_Mutation_p.R18Q|NRG2_ENST00000358522.3_Missense_Mutation_p.R18Q|NRG2_ENST00000289409.4_Missense_Mutation_p.R18Q|NRG2_ENST00000541337.1_Missense_Mutation_p.R18Q|NRG2_ENST00000394770.1_Missense_Mutation_p.R18Q	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	18					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gctgctgcACCGACCCTTCTC	0.701													C|||	11	0.00219649	8e-04	0.0072	5008	,	,		10461	0		0.005	False		,,,				2504	0				p.R18Q		.											.	NRG2-526	0			c.G53A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3008		0,0,1504	4	5	5		53,53,53,53,53	-2.4	1	5		5	9,6245		0,9,3118	no	missense,missense,missense,missense,missense	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	43,43,43,43,43	0,9,4622	TT,TC,CC		0.1439,0.0,0.0972	benign,benign,benign,benign,benign	18/853,18/859,18/845,18/851,18/785	139422602	9,9253	1504	3127	4631	SO:0001583	missense	9542	exon1			CTGCACCGACCCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.53G>A	5.37:g.139422602C>T	ENSP00000354910:p.Arg18Gln	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	15	12	NM_013982	0	0	1	1	0		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	16	0.007326007326007326	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	14.46	2.542008	0.45280	0.0	0.001439	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000378238	T;T;T;T;T;T;T;T	0.75821	-0.72;-0.76;-0.72;-0.76;-0.97;-0.97;-0.76;-0.97	3.88	-2.44	0.06502	.	.	.	.	.	T	0.39145	0.1067	N	0.08118	0	0.27621	N	0.948338	B;B;B;B	0.23891	0.093;0.056;0.093;0.093	B;B;B;B	0.23275	0.045;0.02;0.045;0.045	T	0.27262	-1.0079	9	0.41790	T	0.15	-5.1631	16.7016	0.85350	0.0:0.3488:0.6512:0.0	.	18;18;18;18	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	Q	18	ENSP00000444235:R18Q;ENSP00000289422:R18Q;ENSP00000354910:R18Q;ENSP00000438753:R18Q;ENSP00000378251:R18Q;ENSP00000289409:R18Q;ENSP00000351323:R18Q;ENSP00000367483:R18Q	ENSP00000289409:R18Q	R	-	2	0	NRG2	139402786	0.998000	0.40836	0.996000	0.52242	0.989000	0.77384	0.158000	0.16422	-0.236000	0.09753	0.491000	0.48974	CGG	C|0.993;T|0.007		0.701	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139422602	C	T	139422602	3	4	6	1	0	0	0	0	1	0	0	0	10687	652	23	1	2630	1	NRG2	5	139422602	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	10558289	139422602	41492658	46	1173											
PCDHB6	56130	broad.mit.edu	37	chr5	140531248	140531248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	11	17	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:140531248C>T	ENST00000231136.1	+	1	1410	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PCDHB6_ENST00000543635.1_Silent_p.S334S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.642																																					p.S470S		.											.	PCDHB6-91	0			c.C1410T						.						93	102	99					5																	140531248		2203	4300	6503	SO:0001819	synonymous_variant	56130	exon1			CGGCAGCGTCAGC	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.1410C>T	5.37:g.140531248C>T		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	303	17	NM_018939	0	0	7	14	7	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			.		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		T	140531248	C	T	140531248	2	4	6	1	0	0	0	0	0	0	0	1	11585	767	27	1		1	PCDHB6	5	140531248	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	1108646	140531248	40384012	47	1174											
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559514	140559514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccaggctgctgagcgaGcgcgacgcggccaagcagag	16	14	0	2	rs142690275	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:140559514G>A	ENST00000239444.2	+	1	2144	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGAGCGAGCGCGACGCGG	0.692													G|||	59	0.0117812	0.0303	0.0072	5008	,	,		16359	0		0.0109	False		,,,				2504	0.0031				p.E633E		.											.	PCDHB8-131	0			c.G1899A						.	G		163,3887		6,151,1868	21	24	23		1899	3.3	1	5	dbSNP_134	23	37,8077		0,37,4020	no	coding-synonymous	PCDHB8	NM_019120.3		6,188,5888	AA,AG,GG		0.456,4.0247,1.6442		633/802	140559514	200,11964	2025	4057	6082	SO:0001819	synonymous_variant	56128	exon1			GAGCGAGCGCGAC	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.1899G>A	5.37:g.140559514G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	32	20	NM_019120	0	0	5	5	0	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																			G|0.986;A|0.014		0.692	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559514	G	A	140559514	2	1	6	1	0	0	0	0	0	0	0	1	11587	962	34	3		3	PCDHB8	5	140559514	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	28266	140559514	40355746	48	1175											
GLRA1	2741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	151231120	151231120	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatcaggtagtaacccAtctgccgctccaggtggaac	10	12	3	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr5:151231120A>T	ENST00000455880.2	-	7	1029	c.743T>A	c.(742-744)aTg>aAg	p.M248K	GLRA1_ENST00000274576.4_Missense_Mutation_p.M248K|GLRA1_ENST00000545569.1_Missense_Mutation_p.M165K|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	248					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTAGTAACCCATCTGCCGCTC	0.502																																					p.M248K		.											.	GLRA1-91	0			c.T743A						.						117	110	112					5																	151231120		2203	4300	6503	SO:0001583	missense	2741	exon7			TAACCCATCTGCC		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.743T>A	5.37:g.151231120A>T	ENSP00000411593:p.Met248Lys	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	264	60	NM_000171	0	0	0	0	0	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820856	0.71028	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.84516	-1.86;-1.86;-1.86	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel ligand-binding (2);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.66560	2.04	0.80722	D	1	P;D;D	0.76494	0.952;0.999;0.991	P;D;D	0.91635	0.871;0.999;0.991	D	0.92307	0.5854	10	0.87932	D	0	.	15.3686	0.74545	1.0:0.0:0.0:0.0	.	248;165;248	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	K	248;248;165	ENSP00000274576:M248K;ENSP00000411593:M248K;ENSP00000445913:M165K	ENSP00000274576:M248K	M	-	2	0	GLRA1	151211313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.086000	0.62901	0.533000	0.62120	ATG	.		0.502	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			T	151231120	A	T	151231120	3	4	6	1	0	0	0	0	1	0	0	0	6480	217	8	5	642	5	GLRA1	5	151231120	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	10671606	151231120	29684140	49	1176											
HIST1H1E	3008	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	26157045	26157045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcccaagaaggcgacgGgggcggccacccccaagaag	15	13	0	3			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:26157045G>T	ENST00000304218.3	+	1	487	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	143					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GAAGGCGACGGGGGCGGCCAC	0.622																																					p.G143W		.											.	HIST1H1E-154	0			c.G427T						.						12	20	18					6																	26157045		2193	4278	6471	SO:0001583	missense	3008	exon1			GCGACGGGGGCGG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.427G>T	6.37:g.26157045G>T	ENSP00000307705:p.Gly143Trp	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	138	37	NM_005321	0	0	0	0	0	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535648	0.27475	.	.	ENSG00000168298	ENST00000304218	T	0.04083	3.71	5.36	4.49	0.54785	.	0.340680	0.27876	N	0.017496	T	0.01156	0.0038	N	0.14661	0.345	0.28754	N	0.901299	P	0.51653	0.947	B	0.36959	0.237	T	0.44360	-0.9333	10	0.66056	D	0.02	-5.8076	11.4944	0.50400	0.1515:0.0:0.8485:0.0	.	143	P10412	H14_HUMAN	W	143	ENSP00000307705:G143W	ENSP00000307705:G143W	G	+	1	0	HIST1H1E	26265024	0.873000	0.30073	0.186000	0.23195	0.577000	0.36160	1.573000	0.36472	1.375000	0.46248	0.561000	0.74099	GGG	.		0.622	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		T	26157045	G	T	26157045	3	4	6	1	0	0	0	0	1	0	0	0	7153	1232	43	3	429	3	HIST1H1E	6	26157045	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		26157045	144958022	50	1177											
HLA-A	3105	bcgsc.ca	37	chr6	29910688	29910688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcgggcgccgtggatAgagcaggaggggccggagta	21	9	0	1	rs41544012	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:29910688A>G	ENST00000396634.1	+	4	569	c.228A>G	c.(226-228)atA>atG	p.I76M	HLA-A_ENST00000376809.5_Missense_Mutation_p.I76M|HLA-A_ENST00000376802.2_Missense_Mutation_p.I76M|HLA-A_ENST00000376806.5_Missense_Mutation_p.I76M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	76	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGCCGTGGATAGAGCAGGAGG	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.I76M		.											.	HLA-A-92	0			c.A228G						.						50	52	52					6																	29910688		2203	4299	6502	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGGATAGAGCAG	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.228A>G	6.37:g.29910688A>G	ENSP00000379873:p.Ile76Met	Somatic	110	2		WXS	Illumina GAIIx	Phase_I	516	39	NM_001242758	1	1	2208	2212	2	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	264	0.12087912087912088	78	0.15853658536585366	37	0.10220994475138122	70	0.12237762237762238	79	0.10422163588390501	.	10.57	1.387103	0.25031	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00008	9.61;9.61;9.61;9.61	3.71	1.8	0.24995	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	4.887320	0.02623	U	0.103442	T	0.00012	0.0000	N	0.00859	-1.14	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.003;0.003;0.003	B;B;B;B;B	0.26094	0.02;0.041;0.037;0.066;0.037	T	0.42430	-0.9452	10	0.66056	D	0.02	.	6.565	0.22507	0.2379:0.0:0.7621:0.0	rs41544012	76;76;76;76;76	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	M	76	ENSP00000379873:I76M;ENSP00000366002:I76M;ENSP00000366005:I76M;ENSP00000365998:I76M	ENSP00000348012:I76M	I	+	3	3	HLA-A	30018667	0.000000	0.05858	0.003000	0.11579	0.096000	0.18686	-0.131000	0.10482	0.352000	0.24053	-0.538000	0.04264	ATA	A|0.885;G|0.115		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910688	A	G	29910688	3	3	6	1	0	0	0	0	1	0	0	0	7222	410	15	4	234	4	HLA-A	6	29910688	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	3753643	29910688	141204379	51	1178											
CPNE5	57699	hgsc.bcm.edu	37	chr6	36710069	36710069	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcgtgtgcaggggggaCgcagggggcgtgcgggctgg	24	7	0	0	rs150763631	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:36710069C>A	ENST00000244751.2	-	21	2382	c.1758G>T	c.(1756-1758)gcG>gcT	p.A586A	CPNE5_ENST00000393189.2_Silent_p.A294A|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	586						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGGGGGGACGCAGGGGGCG	0.697													C|||	61	0.0121805	0.0424	0.0072	5008	,	,		12498	0		0	False		,,,				2504	0				p.A586A		.											.	CPNE5-91	0			c.G1758T						.	C		162,4238		5,152,2043	25	30	28		1758	-8.7	0	6	dbSNP_134	28	0,8596		0,0,4298	no	coding-synonymous	CPNE5	NM_020939.1		5,152,6341	AA,AC,CC		0.0,3.6818,1.2465		586/594	36710069	162,12834	2200	4298	6498	SO:0001819	synonymous_variant	57699	exon21			GGGGGACGCAGGG	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1758G>T	6.37:g.36710069C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	4	NM_020939	0	0	0	1	1	Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																			C|0.989;A|0.011		0.697	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		A	36710069	C	A	36710069	2	1	6	1	0	0	0	0	0	0	0	1	3822	523	19	2		2	CPNE5	6	36710069	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	6799381	36710069	134404998	52	1179											
POLR1C	9533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	43485110	43485110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgggaccaggaccgcttcGagaaggtaagtggggccgga	17	10	0	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:43485110G>A	ENST00000372389.3	+	2	224	c.136G>A	c.(136-138)Gag>Aag	p.E46K	RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Missense_Mutation_p.E46K|POLR1C_ENST00000304004.3_Missense_Mutation_p.E46K|YIPF3_ENST00000506469.1_5'Flank|YIPF3_ENST00000372422.2_5'Flank	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	46					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGACCGCTTCGAGAAGGTAAG	0.547																																					p.E46K		.											.	POLR1C-90	0			c.G136A						.						155	157	156					6																	43485110		2203	4300	6503	SO:0001583	missense	9533	exon2			CGCTTCGAGAAGG	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.136G>A	6.37:g.43485110G>A	ENSP00000361465:p.Glu46Lys	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	154	8	NM_203290	0	0	0	0	0	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.303|7.303	0.613357|0.613357	0.14066|0.14066	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000372389;ENST00000372344;ENST00000304004|ENST00000423780	D;D;T|.	0.81659|.	-1.52;-1.52;-0.52|.	5.3|5.3	4.43|4.43	0.53597|0.53597	DNA-directed RNA polymerase, RBP11-like (1);|.	0.109676|.	0.64402|.	D|.	0.000008|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.12637|0.12637	0.245|0.245	0.53005|0.53005	D|D	0.999964|0.999964	B;B|.	0.19445|.	0.036;0.002|.	B;B|.	0.13407|.	0.009;0.003|.	T|T	0.14062|0.14062	-1.0486|-1.0486	10|5	0.02654|.	T|.	1|.	-25.5649|-25.5649	14.3154|14.3154	0.66446|0.66446	0.0:0.1486:0.8514:0.0|0.0:0.1486:0.8514:0.0	.|.	46;46|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	K|Q	46|45	ENSP00000361465:E46K;ENSP00000361419:E46K;ENSP00000307212:E46K|.	ENSP00000307212:E46K|.	E|R	+|+	1|2	0|0	POLR1C|POLR1C	43593088|43593088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	3.359000|3.359000	0.52292|0.52292	1.216000|1.216000	0.43427|0.43427	-0.321000|-0.321000	0.08615|0.08615	GAG|CGA	.		0.547	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		A	43485110	G	A	43485110	3	1	6	1	0	0	0	0	1	0	0	0	12250	1059	37	1	142	1	POLR1C	6	43485110	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	6775041	43485110	127629957	53	1180											
IGF2R	3482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	160453715	160453715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcagcaggatgtctccAtagacctcacaccacttgcc	9	15	2	1	rs369933452		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:160453715A>G	ENST00000356956.1	+	8	1163	c.1015A>G	c.(1015-1017)Ata>Gta	p.I339V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	339					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)	GGATGTCTCCATAGACCTCAC	0.532																																					p.I339V		.											.	IGF2R-118	0			c.A1015G						.						86	83	84					6																	160453715		2203	4300	6503	SO:0001583	missense	3482	exon8			GTCTCCATAGACC	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.1015A>G	6.37:g.160453715A>G	ENSP00000349437:p.Ile339Val	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	119	18	NM_000876	0	0	8	17	9	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	5.224	0.226916	0.09916	.	.	ENSG00000197081	ENST00000356956	T	0.02158	4.42	5.09	-1.76	0.08006	Mannose-6-phosphate receptor, binding (1);	0.298647	0.35378	N	0.003253	T	0.00784	0.0026	L	0.33710	1.025	0.39412	D	0.966762	B	0.14805	0.011	B	0.20184	0.028	T	0.48822	-0.9001	10	0.28530	T	0.3	-11.1593	12.3226	0.54993	0.4689:0.0:0.5311:0.0	.	339	P11717	MPRI_HUMAN	V	339	ENSP00000349437:I339V	ENSP00000349437:I339V	I	+	1	0	IGF2R	160373705	0.147000	0.22687	0.005000	0.12908	0.010000	0.07245	0.537000	0.23144	-0.472000	0.06881	-0.290000	0.09829	ATA	.		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160453715	A	G	160453715	3	3	6	1	0	0	0	0	1	0	0	0	7603	217	8	4	1045	4	IGF2R	6	160453715	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	116968605	160453715	10661352	54	1181											
SMOC2	64094	hgsc.bcm.edu	37	chr6	168842113	168842113	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgccggtgcccgcTcagaagttctcggcgctcac	11	18	3	1	rs73270928	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2	3	3		63,63	-0.4	1	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168842113	T	G	168842113	2	3	6	1	0	0	0	0	0	0	0	1	14847	1538	54	5		5	SMOC2	6	168842113	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	8388398	168842113	2272954	55	1182											
RADIL	55698	hgsc.bcm.edu	37	chr7	4841489	4841489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttgccttccagggggGgcctgtgcccagggagcccc	17	14	0	0	rs151229803	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr7:4841489G>A	ENST00000399583.3	-	12	2824	c.2637C>T	c.(2635-2637)gcC>gcT	p.A879A	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.A639A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	879	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCCAGGGGGGGCCTGTGCCC	0.736													T|||	73	0.0145767	0.0537	0.0029	5008	,	,		12777	0		0	False		,,,				2504	0				p.A879A		.											.	RADIL-994	0			c.C2637T						.	T		106,3144		1,104,1520	5	6	6		2637	-7.4	0	7	dbSNP_134	6	1,7417		0,1,3708	no	coding-synonymous	RADIL	NM_018059.4		1,105,5228	AA,AG,GG		0.0135,3.2615,1.003		879/1076	4841489	107,10561	1625	3709	5334	SO:0001819	synonymous_variant	55698	exon12			AGGGGGGGCCTGT	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2637C>T	7.37:g.4841489G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	12	NM_018059	0	0	1	2	1	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																			G|0.991;A|0.009		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4841489	G	A	4841489	2	1	6	1	0	0	0	0	0	0	0	1	13042	1219	43	3		3	RADIL	7	4841489	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		4841489	154297174	56	1183											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_002047	0	0	0	7	7	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	6	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	25793172	30634661	128504002	57	1184											
ELMO1	9844	bcgsc.ca	37	chr7	37272769	37272769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcagctcaacgaaggcCgtcagggtgaaggacagcat	12	11	3	1	rs35387639	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr7:37272769C>T	ENST00000310758.4	-	8	1127	c.480G>A	c.(478-480)acG>acA	p.T160T	ELMO1_ENST00000442504.1_Silent_p.T160T|ELMO1_ENST00000448602.1_Silent_p.T160T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	160					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						CAACGAAGGCCGTCAGGGTGA	0.493													C|||	160	0.0319489	0.0242	0.0476	5008	,	,		18279	0		0.0626	False		,,,				2504	0.0327				p.T160T		.											.	ELMO1-96	0			c.G480A						.	C	,,	146,4260	102.5+/-141.1	1,144,2058	99	83	89		480,480,480	-3.4	1	7	dbSNP_126	89	345,8255	117.2+/-176.8	5,335,3960	no	coding-synonymous,coding-synonymous,coding-synonymous	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	,,	6,479,6018	TT,TC,CC		4.0116,3.3137,3.7752	,,	160/728,160/728,160/728	37272769	491,12515	2203	4300	6503	SO:0001819	synonymous_variant	9844	exon8			GAAGGCCGTCAGG	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.480G>A	7.37:g.37272769C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_014800	0	0	1	1	0	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																			C|0.964;T|0.036		0.493	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37272769	C	T	37272769	2	4	6	1	0	0	0	0	0	0	0	1	5081	639	23	1		1	ELMO1	7	37272769	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	6638108	37272769	121865894	58	1185											
LRRN3	54674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	110764308	110764308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaaagaagggggtttaTatacttgtatagcaactaac	8	8	0	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr7:110764308T>C	ENST00000422987.3	+	2	2311	c.1480T>C	c.(1480-1482)Tat>Cat	p.Y494H	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.Y494H|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.Y494H|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	494	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGGGGGTTTATATACTTGTAT	0.393																																					p.Y494H		.											.	LRRN3-154	0			c.T1480C						.						59	58	58					7																	110764308		2203	4300	6503	SO:0001583	missense	54674	exon2			GGTTTATATACTT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1480T>C	7.37:g.110764308T>C	ENSP00000412417:p.Tyr494His	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	196	35	NM_018334	0	0	1	1	0	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610304	0.66558	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	D;D;D	0.99598	-6.26;-6.26;-6.26	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	D	0.99851	0.9931	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96418	0.9309	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	494	Q9H3W5	LRRN3_HUMAN	H	494	ENSP00000312001:Y494H;ENSP00000397312:Y494H;ENSP00000412417:Y494H	ENSP00000312001:Y494H	Y	+	1	0	LRRN3	110551544	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT	.		0.393	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110764308	T	C	110764308	3	2	6	1	0	0	0	0	1	0	0	0	9071	1406	49	4	1482	4	LRRN3	7	110764308	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	73491539	110764308	48374355	59	1186											
CAPZA2	830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	116557779	116557779	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaactattgtttttcatAgactgccatcagtgagaatt	6	7	3	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr7:116557779A>G	ENST00000361183.3	+	10	859		c.e10-1		CAPZA2_ENST00000458284.2_Splice_Site	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TGTTTTTCATAGACTGCCATC	0.348																																					.		.											.	CAPZA2-514	0			c.721-2A>G						.						119	117	118					7																	116557779		2203	4300	6503	SO:0001630	splice_region_variant	830	exon10			TTTCATAGACTGC		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.721-1A>G	7.37:g.116557779A>G		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	116	26	NM_006136	0	0	0	0	0	B4DG50	Splice_Site	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334524	0.60853	.	.	ENSG00000198898	ENST00000361183	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8386	0.78824	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPZA2	116345015	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.245000	0.95431	2.135000	0.66039	0.383000	0.25322	.	.		0.348	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136	Intron	G	116557779	A	G	116557779	5	3	6	1	0	0	0	0	0	0	1	0	2648	434	15	4	757	4	CAPZA2	7	116557779	Splice_Site	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	5793471	116557779	42580884	60	1187											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470130	10470130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctccctccagctttcCgctcagcccctatctgggca	8	19	2	0	rs79401306	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:10470130C>T	ENST00000382483.3	-	4	1701	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	493					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCAGCTTTCCGCTCAGCCCC	0.721													C|||	103	0.0205671	0.0764	0.0029	5008	,	,		15146	0		0	False		,,,				2504	0				p.R493Q		.											.	RP1L1-139	0			c.G1478A						.	C	GLN/ARG	205,3593		6,193,1700	26	30	29		1478	-2.6	0	8	dbSNP_131	29	3,8241		0,3,4119	yes	missense	RP1L1	NM_178857.5	43	6,196,5819	TT,TC,CC		0.0364,5.3976,1.7273	possibly-damaging	493/2401	10470130	208,11834	1899	4122	6021	SO:0001583	missense	94137	exon4			GCTTTCCGCTCAG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1478G>A	8.37:g.10470130C>T	ENSP00000371923:p.Arg493Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	44	0.020146520146520148	44	0.08943089430894309	0	0.0	0	0.0	0	0.0	C	7.544	0.661253	0.14645	0.053976	3.64E-4	ENSG00000183638	ENST00000382483	T	0.04083	3.71	4.06	-2.57	0.06248	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.45190	-0.9278	9	0.41790	T	0.15	14.544	4.0305	0.09706	0.1672:0.3134:0.0:0.5194	.	493	A6NKC6	.	Q	493	ENSP00000371923:R493Q	ENSP00000371923:R493Q	R	-	2	0	RP1L1	10507540	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.619000	0.05572	-0.838000	0.04218	0.561000	0.74099	CGG	C|0.987;T|0.013		0.721	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10470130	C	T	10470130	3	4	6	1	0	0	0	0	1	0	0	0	13578	652	23	1	5728	1	RP1L1	8	10470130	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10		10470130	135893892	61	1188											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10470764	10470764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcccaccggggggtTgctaggaccaggcctttctg	16	12	1	0	rs75814156	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:10470764T>G	ENST00000382483.3	-	4	1067	c.844A>C	c.(844-846)Aac>Cac	p.N282H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	282					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCGGGGGGTTGCTAGGACCA	0.672													T|||	113	0.0225639	0.084	0.0029	5008	,	,		15048	0		0	False		,,,				2504	0				p.N282H		.											.	RP1L1-139	0			c.A844C						.	T	HIS/ASN	236,3690		8,220,1735	55	62	60		844	0.6	0	8	dbSNP_131	60	2,8288		0,2,4143	yes	missense	RP1L1	NM_178857.5	68	8,222,5878	GG,GT,TT		0.0241,6.0112,1.9483	probably-damaging	282/2401	10470764	238,11978	1963	4145	6108	SO:0001583	missense	94137	exon4			GGGGGTTGCTAGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.844A>C	8.37:g.10470764T>G	ENSP00000371923:p.Asn282His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	53	29	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	49	0.022435897435897436	49	0.09959349593495935	0	0.0	0	0.0	0	0.0	T	13.74	2.326457	0.41197	0.060112	2.41E-4	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.67	0.552	0.17230	.	0.788418	0.10319	N	0.688987	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	D	0.58970	0.984	P	0.46796	0.527	T	0.49960	-0.8883	10	0.59425	D	0.04	-5.163	5.688	0.17813	0.0:0.5952:0.1546:0.2502	.	282	A6NKC6	.	H	282	ENSP00000371923:N282H	ENSP00000371923:N282H	N	-	1	0	RP1L1	10508174	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.263000	0.18478	-0.050000	0.13356	-0.643000	0.03959	AAC	T|0.984;G|0.016		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			G	10470764	T	G	10470764	3	3	6	1	0	0	0	0	1	0	0	0	13578	1812	63	5	6362	5	RP1L1	8	10470764	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	634	10470764	135893258	62	1189											
SLC25A37	51312	bcgsc.ca	37	chr8	23423669	23423669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcccagtacacaagtAtctacggagccctcaagaaa	7	13	2	1	rs2942194	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:23423669A>G	ENST00000519973.1	+	2	457	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	87			I -> V (in dbSNP:rs2942194).		iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GTACACAAGTATCTACGGAGC	0.522													A|||	867	0.173123	0.0197	0.2421	5008	,	,		17834	0.2163		0.2922	False		,,,				2504	0.1646				p.I87V		.											.	SLC25A37-90	0			c.A259G						.	A	VAL/ILE	224,3528		8,208,1660	50	46	48		259	3.5	0.6	8	dbSNP_101	48	2270,5940		334,1602,2169	yes	missense	SLC25A37	NM_016612.2	29	342,1810,3829	GG,GA,AA		27.6492,5.9701,20.8494	benign	87/339	23423669	2494,9468	1876	4105	5981	SO:0001583	missense	51312	exon2			ACAAGTATCTACG	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.259A>G	8.37:g.23423669A>G	ENSP00000429200:p.Ile87Val	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_016612	0	0	13	13	0	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	CCDS47828.1	436	0.19963369963369965	9	0.018292682926829267	101	0.27900552486187846	114	0.1993006993006993	212	0.2796833773087071	A	4.840	0.156136	0.09236	0.059701	0.276492	ENSG00000147454	ENST00000519973;ENST00000523930	T;T	0.79352	-1.26;-1.26	5.63	3.49	0.39957	Mitochondrial carrier domain (2);	0.108721	0.64402	N	0.000008	T	0.00012	0.0000	N	0.02865	-0.47	0.30069	P	0.8102119999999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.09818	-1.0657	9	0.02654	T	1	-0.971	5.0266	0.14389	0.4417:0.0:0.5583:0.0	rs2942194;rs3736031;rs17778429;rs61300777;rs2942194	87;87	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	V	87;68	ENSP00000429200:I87V;ENSP00000428066:I68V	ENSP00000290075:I87V	I	+	1	0	SLC25A37	23479614	1.000000	0.71417	0.591000	0.28745	0.960000	0.62799	4.460000	0.60108	0.457000	0.26962	0.533000	0.62120	ATC	A|0.818;G|0.182		0.522	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		G	23423669	A	G	23423669	3	3	6	1	0	0	0	0	1	0	0	0	14546	449	16	4	265	4	SLC25A37	8	23423669	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	12952905	23423669	122940353	63	1190											
ASPH	444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	62596612	62596612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctagaacttcctcaTagtcaacaagatcaaaccaa	3	12	4	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:62596612T>C	ENST00000379454.4	-	2	426	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	ASPH_ENST00000379449.6_Missense_Mutation_p.Y80C|ASPH_ENST00000389204.4_Missense_Mutation_p.Y51C|ASPH_ENST00000445642.3_Missense_Mutation_p.Y51C|ASPH_ENST00000517847.2_Missense_Mutation_p.Y51C|ASPH_ENST00000518068.1_Missense_Mutation_p.Y80C|ASPH_ENST00000517661.1_Missense_Mutation_p.Y51C|ASPH_ENST00000522835.1_Missense_Mutation_p.Y51C|ASPH_ENST00000517856.1_Missense_Mutation_p.Y80C|ASPH_ENST00000522603.1_Missense_Mutation_p.Y51C|ASPH_ENST00000517903.1_Missense_Mutation_p.Y51C|ASPH_ENST00000541428.1_Missense_Mutation_p.Y51C|ASPH_ENST00000356457.5_Missense_Mutation_p.Y80C	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	80					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AACTTCCTCATAGTCAACAAG	0.398																																					p.Y80C		.											.	ASPH-93	0			c.A239G						.						138	134	136					8																	62596612		2203	4300	6503	SO:0001583	missense	444	exon2			TCCTCATAGTCAA	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.239A>G	8.37:g.62596612T>C	ENSP00000368767:p.Tyr80Cys	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	54	10	NM_001164754	0	0	27	35	8	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416533	0.83449	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306;ENST00000517856;ENST00000389204;ENST00000522603;ENST00000379449;ENST00000517661	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	6.07	6.07	0.98685	Aspartyl beta-hydroxylase/Triadin domain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D	0.86152	0.1588	10	0.87932	D	0	-18.426	16.6407	0.85098	0.0:0.0:0.0:1.0	.	51;51;80;51;51;51;51;80;80;80;80;80;51;80	Q12797-4;Q12797-3;B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;E5RG56;Q6NXR7;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;.;.;.;.;ASPH_HUMAN	C	80;51;80;51;80;80;80;51;51;51;51;51;80;51;51;80;51	ENSP00000437864:Y51C;ENSP00000368767:Y80C;ENSP00000429718:Y51C;ENSP00000348841:Y80C;ENSP00000427823:Y80C;ENSP00000429286:Y80C;ENSP00000430245:Y51C;ENSP00000394013:Y51C;ENSP00000429954:Y51C;ENSP00000429160:Y51C;ENSP00000427877:Y51C;ENSP00000429743:Y80C;ENSP00000373856:Y51C;ENSP00000436188:Y51C;ENSP00000368762:Y80C;ENSP00000428060:Y51C	ENSP00000348841:Y80C	Y	-	2	0	ASPH	62759166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.576000	0.82467	2.326000	0.78906	0.533000	0.62120	TAT	.		0.398	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		C	62596612	T	C	62596612	3	2	6	1	0	0	0	0	1	0	0	0	1054	1406	49	4	2849	4	ASPH	8	62596612	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	39172943	62596612	83767410	64	1191											
CNBD1	168975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	87917323	87917323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaagccggagtatgagcaAtatcttatcagctcacgata	8	8	3	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:87917323A>G	ENST00000518476.1	+	3	224	c.173A>G	c.(172-174)aAt>aGt	p.N58S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	58										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGTATGAGCAATATCTTATCA	0.343																																					p.N58S		.											.	CNBD1-3	0			c.A173G						.						77	69	72					8																	87917323		1847	4099	5946	SO:0001583	missense	168975	exon3			TGAGCAATATCTT	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.173A>G	8.37:g.87917323A>G	ENSP00000430073:p.Asn58Ser	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	69	17	NM_173538	0	0	0	0	0		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.374047	0.01214	.	.	ENSG00000176571	ENST00000518476	T	0.11063	2.81	4.33	-8.38	0.00973	.	1.337400	0.04961	N	0.462100	T	0.02455	0.0075	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36504	-0.9745	10	0.02654	T	1	.	1.8134	0.03095	0.2678:0.3636:0.2407:0.128	.	58	Q8NA66	CNBD1_HUMAN	S	58	ENSP00000430073:N58S	ENSP00000430073:N58S	N	+	2	0	CNBD1	87986439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.458000	0.01000	-1.152000	0.02832	-0.472000	0.04984	AAT	.		0.343	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		G	87917323	A	G	87917323	3	3	6	1	0	0	0	0	1	0	0	0	3598	101	4	4	183	4	CNBD1	8	87917323	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	25320711	87917323	58446699	65	1192											
FLJ43860	389690	hgsc.bcm.edu	37	chr8	142477498	142477498	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagccccagcgccctcaCgatctccagcttggccccgt	9	21	2	0	rs76084829	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:142477498C>T	ENST00000430863.1	-	0	2403					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		AGCGCCCTCACGATCTCCAGC	0.711													c|||	68	0.0135783	0.0507	0.0014	5008	,	,		14174	0		0	False		,,,				2504	0				.		.											.	.	0			c.2322+1G>A						.			138,3778		1,136,1821	16	17	17			1.8	0	8	dbSNP_132	17	4,8260		0,4,4128	yes	splice-5	FLJ43860	NM_207414.2		1,140,5949	TT,TC,CC		0.0484,3.524,1.1658			142477498	142,12038	1958	4132	6090			389690	exon19			CCCTCACGATCTC			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477498C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	48	18	NM_207414	0	0	0	0	0		Splice_Site	SNP	ENST00000430863.1	37																																																																																				C|0.982;T|0.018		0.711	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		T	142477498	C	T	142477498	1	4	6	0	1	0	0	0	0	0	0	0	5952	550	19	1		1	FLJ43860	8	142477498	RNA	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	54560175	142477498	3886524	66	1193											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378731	144378731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggagcggcccttcgcctgcCaggactgcggccgcgccttc	15	17	0	0	rs371549135		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:144378731C>G	ENST00000330143.3	+	3	1295	c.886C>G	c.(886-888)Cag>Gag	p.Q296E		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CTTCGCCTGCCAGGACTGCGG	0.731																																					p.Q296E		.											.	ZNF696-90	0			c.C886G						.	C	GLU/GLN	1,3975		0,1,1987	10	13	12		886	-1.8	0	8		12	0,7858		0,0,3929	no	missense	ZNF696	NM_030895.2	29	0,1,5916	GG,GC,CC		0.0,0.0252,0.0085	benign	296/375	144378731	1,11833	1988	3929	5917	SO:0001583	missense	79943	exon3			GCCTGCCAGGACT	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.886C>G	8.37:g.144378731C>G	ENSP00000328515:p.Gln296Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_030895	0	0	4	6	2	A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	C	2.379	-0.342553	0.05243	2.52E-4	0.0	ENSG00000185730	ENST00000330143	T	0.16597	2.33	3.2	-1.8	0.07907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04137	0.0115	N	0.01076	-1.035	0.09310	N	1	B	0.18968	0.032	B	0.10450	0.005	T	0.44590	-0.9318	8	.	.	.	.	5.7834	0.18320	0.4513:0.2413:0.3074:0.0	.	296	Q9H7X3	ZN696_HUMAN	E	296	ENSP00000328515:Q296E	.	Q	+	1	0	ZNF696	144450106	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-3.083000	0.00612	-0.160000	0.11002	-0.330000	0.08379	CAG	.		0.731	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378731	C	G	144378731	3	3	6	1	0	0	0	0	1	0	0	0	18147	595	21	3	892	3	ZNF696	8	144378731	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	1901233	144378731	1985291	67	1194											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu	37	chr8	144940427	144940427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcggatgccgtgctccCggacgatgaggtccttctgc	15	13	1	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:144940427C>T	ENST00000525985.1	-	2	7066	c.6995G>A	c.(6994-6996)cGg>cAg	p.R2332Q				P58107	EPIPL_HUMAN	epiplakin 1	2332						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)			GCCGTGCTCCCGGACGATGAG	0.706																																					p.R2332Q		.											.	EPPK1-25	0			c.G6995A						.						176	176	176					8																	144940427		2161	4245	6406	SO:0001583	missense	83481	exon1			TGCTCCCGGACGA	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.6995G>A	8.37:g.144940427C>T	ENSP00000436337:p.Arg2332Gln	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	202	17	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	19.43	3.826941	0.71143	.	.	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.33	3.43	0.39272	.	.	.	.	.	T	0.33352	0.0860	N	0.04959	-0.14	0.09310	N	1	P	0.47253	0.892	B	0.31390	0.129	T	0.05733	-1.0867	9	0.16896	T	0.51	.	6.2376	0.20772	0.0:0.7721:0.0:0.2279	.	2332	E9PPU0	.	Q	2332	ENSP00000436337:R2332Q	ENSP00000436337:R2332Q	R	-	2	0	EPPK1	145012415	0.000000	0.05858	0.020000	0.16555	0.975000	0.68041	0.479000	0.22228	1.153000	0.42468	0.586000	0.80456	CGG	.		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940427	C	T	144940427	3	4	6	1	0	0	0	0	1	0	0	0	5206	652	23	1	271	1	EPPK1	8	144940427	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	561696	144940427	1423595	68	1195											
EPPK1	83481	hgsc.bcm.edu	37	chr8	144946602	144946602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcgccgcacctcggcacGtgcactcacgtccactgcgg	12	17	1	0	rs147805507	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:144946602G>A	ENST00000525985.1	-	2	891	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C				P58107	EPIPL_HUMAN	epiplakin 1	274						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R274C(1)		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)			ACCTCGGCACGTGCACTCACG	0.682													G|||	15	0.00299521	0.0083	0.0014	5008	,	,		17846	0.003		0	False		,,,				2504	0				p.R274C		.											.	EPPK1-25	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C820T						.	G	CYS/ARG	39,4315		0,39,2138	17	21	20		820	3	0	8	dbSNP_134	20	0,8510		0,0,4255	yes	missense	EPPK1	NM_031308.1	180	0,39,6393	AA,AG,GG		0.0,0.8957,0.3032	probably-damaging	274/2420	144946602	39,12825	2177	4255	6432	SO:0001583	missense	83481	exon1			CGGCACGTGCACT	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.820C>T	8.37:g.144946602G>A	ENSP00000436337:p.Arg274Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	55	37	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		10	0.004578754578754579	6	0.012195121951219513	1	0.0027624309392265192	3	0.005244755244755245	0	0.0	G	11.01	1.513463	0.27123	0.008957	0.0	ENSG00000227184	ENST00000525985	T	0.68479	-0.33	4.81	3.02	0.34903	.	.	.	.	.	T	0.49115	0.1538	L	0.38175	1.15	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.43702	-0.9375	9	0.62326	D	0.03	.	8.9077	0.35535	0.1833:0.0:0.8167:0.0	.	274	E9PPU0	.	C	274	ENSP00000436337:R274C	ENSP00000436337:R274C	R	-	1	0	EPPK1	145018590	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	0.257000	0.18369	0.630000	0.30394	0.511000	0.50034	CGT	G|0.995;A|0.005		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144946602	G	A	144946602	3	1	6	1	0	0	0	0	1	0	0	0	5206	1145	40	1	6446	1	EPPK1	8	144946602	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	6175	144946602	1417420	69	1196											
PLEC	5339	hgsc.bcm.edu	37	chr8	144997023	144997023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagccctgcgtctcctcCgccagctgctgcgccatctg	11	17	2	0	rs146381488	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr8:144997023C>T	ENST00000322810.4	-	31	7654	c.7485G>A	c.(7483-7485)gcG>gcA	p.A2495A	PLEC_ENST00000354589.3_Silent_p.A2358A|PLEC_ENST00000357649.2_Silent_p.A2362A|PLEC_ENST00000356346.3_Silent_p.A2344A|PLEC_ENST00000398774.2_Silent_p.A2326A|PLEC_ENST00000436759.2_Silent_p.A2385A|PLEC_ENST00000527096.1_Silent_p.A2381A|PLEC_ENST00000354958.2_Silent_p.A2336A|PLEC_ENST00000345136.3_Silent_p.A2358A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2495	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGTCTCCTCCGCCAGCTGCT	0.687													C|||	10	0.00199681	0	0.0043	5008	,	,		15355	0		0.007	False		,,,				2504	0				p.A2495A		.											.	PLEC-141	0			c.G7485A						.	C	,,,,,,,	9,4313		0,9,2152	6	7	7		7155,7032,7008,7485,6978,7074,7086,7074	-10.3	0	8	dbSNP_134	7	41,8461		0,41,4210	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,50,6362	TT,TC,CC		0.4822,0.2082,0.3899	,,,,,,,	2385/4575,2344/4534,2336/4526,2495/4685,2326/4516,2358/4548,2362/4552,2358/4548	144997023	50,12774	2161	4251	6412	SO:0001819	synonymous_variant	5339	exon31			CTCCTCCGCCAGC	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.7485G>A	8.37:g.144997023C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	32	17	NM_201380	0	0	1	5	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.998;T|0.002		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144997023	C	T	144997023	2	4	6	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144997023	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	50421	144997023	1366999	70	1197											
PGM5	5239	hgsc.bcm.edu	37	chr9	70972109	70972109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgaggaccagcggccggcCggcggcgggggtctgcggcg	21	13	1	0	rs79088300	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr9:70972109C>T	ENST00000396396.1	+	1	295	c.66C>T	c.(64-66)gcC>gcT	p.A22A	PGM5-AS1_ENST00000420855.1_RNA|PGM5-AS1_ENST00000417887.1_RNA|PGM5_ENST00000604870.2_Intron|PGM5_ENST00000396392.1_Silent_p.A22A	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	22				A -> S (in Ref. 4; CAA73882). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						Agcggccggccggcggcgggg	0.726													c|||	333	0.0664936	0.2405	0.0173	5008	,	,		9774	0		0.003	False		,,,				2504	0				p.A22A		.											.	PGM5-92	0			c.C66T						.	C		224,2228		1,222,1003	2	2	2		66	-1.9	0.7	9	dbSNP_131	2	4,5508		0,4,2752	no	coding-synonymous	PGM5	NM_021965.3		1,226,3755	TT,TC,CC		0.0726,9.1354,2.8629		22/568	70972109	228,7736	1226	2756	3982	SO:0001819	synonymous_variant	5239	exon1			GCCGGCCGGCGGC	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.66C>T	9.37:g.70972109C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_021965	0	0	5	11	6	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	CCDS6622.2																																																																																			C|0.936;T|0.064		0.726	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		T	70972109	C	T	70972109	2	4	6	1	0	0	0	0	0	0	0	1	11840	639	23	1		1	PGM5	9	70972109	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10		70972109	70241322	71	1198											
TNC	3371	bcgsc.ca	37	chr9	117797597	117797597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtagcagtcaagtcTcttggagaatcgaggtctgg	12	9	4	1	rs12347433	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr9:117797597T>C	ENST00000350763.4	-	22	6084	c.5673A>G	c.(5671-5673)agA>agG	p.R1891R	TNC_ENST00000423613.2_Silent_p.R1618R|TNC_ENST00000542877.1_Silent_p.R1528R|TNC_ENST00000345230.3_Silent_p.R1254R|TNC_ENST00000341037.4_Silent_p.R1709R|TNC_ENST00000537320.1_Silent_p.R1254R|TNC_ENST00000346706.3_Silent_p.R1345R|TNC_ENST00000535648.1_Silent_p.R1436R|TNC_ENST00000340094.3_Silent_p.R1527R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1891	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R1891R(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGTCAAGTCTCTTGGAGAAT	0.512													T|||	773	0.154353	0.0666	0.1484	5008	,	,		19335	0.129		0.2793	False		,,,				2504	0.1748				p.R1891R		.											.	TNC-517	1	Substitution - coding silent(1)	stomach(1)	c.A5673G						.	T		404,4002	199.4+/-223.0	21,362,1820	72	72	72		5673	6	1	9	dbSNP_120	72	2313,6287	389.1+/-342.8	320,1673,2307	no	coding-synonymous	TNC	NM_002160.3		341,2035,4127	CC,CT,TT		26.8953,9.1693,20.8904		1891/2202	117797597	2717,10289	2203	4300	6503	SO:0001819	synonymous_variant	3371	exon22			CAAGTCTCTTGGA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5673A>G	9.37:g.117797597T>C		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	89	7	NM_002160	0	0	0	0	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	383	0.17536630036630035	40	0.08130081300813008	46	0.1270718232044199	85	0.1486013986013986	212	0.2796833773087071	T	10.49	1.365894	0.24684	0.091693	0.268953	ENSG00000041982	ENST00000544972	T	0.57436	0.4	5.97	5.97	0.96955	.	0.206129	0.51477	D	0.000084	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.22034	-1.0228	6	0.48119	T	0.1	.	10.4647	0.44600	0.0:0.1145:0.0:0.8855	rs12347433;rs17240303;rs12347433	.	.	.	G	454	ENSP00000445380:R454G	ENSP00000445380:R454G	R	-	1	2	TNC	116837418	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.042000	0.49815	2.274000	0.75844	0.533000	0.62120	AGA	T|0.813;C|0.187		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		C	117797597	T	C	117797597	2	2	6	1	0	0	0	0	0	0	0	1	16317	1548	54	4		4	TNC	9	117797597	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	46825488	117797597	23415834	72	1199											
GOLGA1	2800	broad.mit.edu	37	chr9	127693630	127693630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaacttccgtatctgttcaTtccttctcagaagctgggat	7	11	3	1	rs148050398		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr9:127693630T>C	ENST00000373555.4	-	4	524	c.191A>G	c.(190-192)aAt>aGt	p.N64S		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	64					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TATCTGTTCATTCCTTCTCAG	0.433													T|||	1	0.000199681	8e-04	0	5008	,	,		16388	0		0	False		,,,				2504	0				p.N64S		.											.	GOLGA1-91	0			c.A191G						.	T	SER/ASN	8,4398	14.3+/-33.2	0,8,2195	148	141	144		191	5.1	1	9	dbSNP_134	144	0,8600		0,0,4300	yes	missense	GOLGA1	NM_002077.3	46	0,8,6495	CC,CT,TT		0.0,0.1816,0.0615	possibly-damaging	64/768	127693630	8,12998	2203	4300	6503	SO:0001583	missense	2800	exon4			TGTTCATTCCTTC	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.191A>G	9.37:g.127693630T>C	ENSP00000362656:p.Asn64Ser	Somatic	82	1		WXS	Illumina GAIIx	Phase_I	98	3	NM_002077	0	0	6	6	0	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944635	0.73672	0.001816	0.0	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.16743	2.32;2.32	5.11	5.11	0.69529	.	0.146859	0.31010	U	0.008435	T	0.13756	0.0333	L	0.36672	1.1	0.54753	D	0.999981	B	0.28512	0.214	B	0.24848	0.056	T	0.08680	-1.0710	10	0.15499	T	0.54	-13.7441	14.232	0.65898	0.0:0.0:0.0:1.0	.	64	Q92805	GOGA1_HUMAN	S	64	ENSP00000362656:N64S;ENSP00000396966:N64S	ENSP00000362656:N64S	N	-	2	0	GOLGA1	126733451	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	7.174000	0.77620	2.142000	0.66516	0.482000	0.46254	AAT	T|0.999;C|0.001		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		C	127693630	T	C	127693630	3	2	6	1	0	0	0	0	1	0	0	0	6577	1493	52	4	2192	4	GOLGA1	9	127693630	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	9896033	127693630	13519801	73	1200											
C9orf171	389799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135447854	135447854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggaagagtgtgccgTgcgccaggggaccctgcgga	17	13	0	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr9:135447854T>C	ENST00000343036.2	+	7	968	c.920T>C	c.(919-921)gTg>gCg	p.V307A	C9orf171_ENST00000393216.2_Missense_Mutation_p.V271A	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	307										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GAGTGTGCCGTGCGCCAGGGG	0.602																																					p.V307A		.											.	C9orf171-157	0			c.T920C						.						53	51	52					9																	135447854		2203	4300	6503	SO:0001583	missense	389799	exon7			GTGCCGTGCGCCA	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.920T>C	9.37:g.135447854T>C	ENSP00000343290:p.Val307Ala	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	43	15	NM_207417	0	0	0	0	0	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	T	4.414	0.076506	0.08485	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.21543	2.01;2.0	5.53	2.99	0.34606	.	0.411149	0.21865	N	0.067979	T	0.09992	0.0245	N	0.25647	0.755	0.21967	N	0.999448	B;B	0.15930	0.001;0.015	B;B	0.14023	0.002;0.01	T	0.39440	-0.9614	10	0.02654	T	1	.	5.3118	0.15835	0.0:0.0925:0.1788:0.7287	.	271;307	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	A	307;271	ENSP00000343290:V307A;ENSP00000376909:V271A	ENSP00000343290:V307A	V	+	2	0	C9orf171	134437675	0.999000	0.42202	0.990000	0.47175	0.893000	0.52053	1.116000	0.31221	2.115000	0.64714	0.443000	0.29094	GTG	.		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		C	135447854	T	C	135447854	3	2	6	1	0	0	0	0	1	0	0	0	2477	1696	59	4	946	4	C9orf171	9	135447854	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	7754224	135447854	5765577	74	1201											
EXD3	54932	hgsc.bcm.edu	37	chr9	140243589	140243589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggccggtgctgacgcTttctgcaggccgggtggctt	18	11	1	1	rs114716688	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr9:140243589T>C	ENST00000340951.4	-	16	1998	c.1803A>G	c.(1801-1803)aaA>aaG	p.K601K	EXD3_ENST00000342129.4_Silent_p.K281K	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						GTGCTGACGCTTTCTGCAGGC	0.667													t|||	124	0.0247604	0.0885	0.0072	5008	,	,		13791	0		0.002	False		,,,				2504	0				p.K601K		.											.	EXD3-90	0			c.A1803G						.			279,3675		21,237,1719	16	22	20		1803	1.4	0	9	dbSNP_132	20	0,8300		0,0,4150	no	coding-synonymous	EXD3	NM_017820.3		21,237,5869	CC,CT,TT		0.0,7.0561,2.2768		601/877	140243589	279,11975	1977	4150	6127	SO:0001819	synonymous_variant	54932	exon16			TGACGCTTTCTGC		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.1803A>G	9.37:g.140243589T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	45	26	NM_017820	0	0	1	5	4	Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	CCDS48066.1																																																																																			T|0.979;C|0.021		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		C	140243589	T	C	140243589	2	2	6	1	0	0	0	0	0	0	0	1	5315	1606	56	4		4	EXD3	9	140243589	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	4795735	140243589	969842	75	1202											
GATA3	2625	hgsc.bcm.edu	37	chr10	8100397	8100398	+	In_Frame_Ins	INS	-	-	CGG													tccaagacgtccatccaccaINScggctccccggggcccctct					rs547425013	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr10:8100397_8100398insCGG	ENST00000346208.3	+	3	826_827	c.371_372insCGG	c.(370-375)cacggc>caCGGcggc	p.125_126insG	GATA3_ENST00000379328.3_In_Frame_Ins_p.125_126insG|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	125					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						TCCATCCACCACGGCTCCCCGG	0.713			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"							3	0.000599042	0.0023	0	5008	,	,		13352	0		0	False		,,,				2504	0				p.H124delinsHG		.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3-1004	0			c.371_372insCGG						.		,	14,4250		0,14,2118					,	5.4	1			75	1,8251		0,1,4125	no	coding,coding	GATA3	NM_002051.2,NM_001002295.1	,	0,15,6243	A1A1,A1R,RR		0.0121,0.3283,0.1198	,	,		15,12501				SO:0001652	inframe_insertion	2625	exon3			TCCACCACGGCTC	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.372_374dupCGG	10.37:g.8100398_8100400dupCGG	ENSP00000341619:p.Gly125_Gly125dup	Somatic	4	1		WXS	Illumina GAIIx	Phase_I	54	15	NM_002051	0	0	0	0	0	Q5VWG7|Q5VWG8|Q96J16	In_Frame_Ins	INS	ENST00000346208.3	37	CCDS7083.1																																																																																			.		0.713	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		CGG	8100398	-	CGG	8100397	7	5	6	1	0	1	1	0	0	0	0	0	6280	159	6	0	377	0	GATA3	10	8100397	In_Frame_Ins	INS	-	TCGA-OR-A5J6-01A-31D-A29I-10		8100397	127434350	76	1203											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	55582281	55582281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagatgtttggtggatgGgcaaaattttcaaaaatatt	12	2	1	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr10:55582281G>A	ENST00000320301.6	-	33	5599	c.5205C>T	c.(5203-5205)gcC>gcT	p.A1735A	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A1732A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Silent_p.A1666A|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Silent_p.A1695A|PCDH15_ENST00000361849.3_Silent_p.A1737A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1712A|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1735					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1735A(2)|p.A1742A(1)		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)				TTGGTGGATGGGCAAAATTTT	0.463										HNSCC(58;0.16)																											p.A1742A		.											.	PCDH15-193	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C5226T						.						35	36	36					10																	55582281		2203	4299	6502	SO:0001819	synonymous_variant	65217	exon35			TGGATGGGCAAAA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5205C>T	10.37:g.55582281G>A		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	45	10	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																			.		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55582281	G	A	55582281	2	1	6	1	0	0	0	0	0	0	0	1	11550	1219	43	3		3	PCDH15	10	55582281	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	47481884	55582281	79952466	77	1204											
WDR11	55717	broad.mit.edu;ucsc.edu	37	chr10	122643301	122643301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttattttaggcagtatttGgcagtcgtattcagagataa	10	4	1	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr10:122643301G>T	ENST00000263461.6	+	14	1995	c.1749G>T	c.(1747-1749)ttG>ttT	p.L583F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	240					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGCAGTATTTGGCAGTCGTAT	0.348																																					p.L583F		.											.	WDR11-226	0			c.G1749T						.						98	94	95					10																	122643301		2203	4300	6503	SO:0001583	missense	55717	exon14			GTATTTGGCAGTC	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.1749G>T	10.37:g.122643301G>T	ENSP00000263461:p.Leu583Phe	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_018117	0	0	0	0	0	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583612	0.13749	.	.	ENSG00000120008	ENST00000263461	T	0.58060	0.36	5.86	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);	0.070780	0.64402	D	0.000019	T	0.37732	0.1014	N	0.17082	0.46	0.58432	D	0.999999	P;P;B	0.41313	0.745;0.745;0.061	B;B;B	0.42959	0.403;0.403;0.069	T	0.08700	-1.0709	10	0.27082	T	0.32	-7.9307	10.512	0.44868	0.2235:0.0:0.7765:0.0	.	583;583;112	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	F	583	ENSP00000263461:L583F	ENSP00000263461:L583F	L	+	3	2	WDR11	122633291	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	5.165000	0.64959	0.821000	0.34540	-0.157000	0.13467	TTG	.		0.348	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			T	122643301	G	T	122643301	3	4	6	1	0	0	0	0	1	0	0	0	17322	1339	47	3	1803	3	WDR11	10	122643301	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	67061020	122643301	12891446	78	1205											
FGFR2	2263	broad.mit.edu	37	chr10	123239112	123239112	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctactggtccacagccaGtacgcacggcaggtgagagg	14	12	0	1	rs1047057	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr10:123239112G>A	ENST00000358487.5	-	0	2997				FGFR2_ENST00000357555.5_Silent_p.L703L|FGFR2_ENST00000356226.4_3'UTR|FGFR2_ENST00000369060.4_3'UTR|FGFR2_ENST00000369061.4_3'UTR|FGFR2_ENST00000478859.1_3'UTR	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)	p.L703L(1)		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)	TCCACAGCCAGTACGCACGGC	0.483		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				G|||	2075	0.414337	0.0938	0.6873	5008	,	,		15689	0.3512		0.5099	False		,,,				2504	0.6207				p.L703L		.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	FGFR2-2607	1	Substitution - coding silent(1)	stomach(1)	c.C2107T						.	G	,,,,,,	237,1147		19,199,474	86	84	85		,,2107,,,,	4.5	0.9	10	dbSNP_86	85	1747,1435		500,747,344	no	utr-3,utr-3,coding-synonymous,utr-3,utr-3,utr-3,utr-3	FGFR2	NM_000141.4,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_022970.3	,,,,,,	519,946,818	AA,AG,GG		45.0974,17.1243,43.4516	,,,,,,	,,703/708,,,,	123239112	1984,2582	692	1591	2283	SO:0001624	3_prime_UTR_variant	2263	exon17	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	CAGCCAGTACGCA	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.*259C>T	10.37:g.123239112G>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	103	3	NM_001144915	0	0	4	4	0	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	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																			G|0.609;A|0.391		0.483	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		A	123239112	G	A	123239112	1	1	6	0	1	0	0	0	0	0	0	0	5888	1020	36	3		3	FGFR2	10	123239112	3'UTR	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	595811	123239112	12295635	79	1206											
PTPRE	5791	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	129839226	129839226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaacgagaccactgcCgacagcaacgagacaaccac	11	14	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr10:129839226C>T	ENST00000254667.3	+	3	360	c.81C>T	c.(79-81)gcC>gcT	p.A27A	PTPRE_ENST00000419012.2_Silent_p.A27A|PTPRE_ENST00000471218.1_Silent_p.A27A|PTPRE_ENST00000430713.2_Silent_p.A27A	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	27					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)	AGACCACTGCCGACAGCAACG	0.607																																					p.A27A	Colon(52;977 1184 20575 41685)	.											.	PTPRE-227	0			c.C81T						.						99	79	86					10																	129839226		2203	4300	6503	SO:0001819	synonymous_variant	5791	exon3			CACTGCCGACAGC	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.81C>T	10.37:g.129839226C>T		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	168	9	NM_006504	0	0	0	0	0	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	0.273	-0.991689	0.02162	.	.	ENSG00000132334	ENST00000439034	.	.	.	4.52	-9.04	0.00734	.	.	.	.	.	T	0.20007	0.0481	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27673	-1.0067	5	0.36615	T	0.2	.	2.9457	0.05845	0.1676:0.4026:0.0756:0.3541	.	.	.	.	L	41	.	ENSP00000415807:P41L	P	+	2	0	PTPRE	129729216	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.027000	0.00085	-1.490000	0.01842	-1.999000	0.00445	CCG	.		0.607	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129839226	C	T	129839226	2	4	6	1	0	0	0	0	0	0	0	1	12845	639	23	1		1	PTPRE	10	129839226	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	6600114	129839226	5695521	80	1207											
CTSD	1509	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	1778638	1778638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcagcacgttgttgacgGagatgcgggggtaggccatg	19	8	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:1778638G>A	ENST00000236671.2	-	5	752	c.620C>T	c.(619-621)tCc>tTc	p.S207F	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.P78S|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	207					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)"	GTTGTTGACGGAGATGCGGGG	0.597																																					p.S207F		.											.	CTSD-90	0			c.C620T						.						191	124	147					11																	1778638		2202	4299	6501	SO:0001583	missense	1509	exon5			TTGACGGAGATGC	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.620C>T	11.37:g.1778638G>A	ENSP00000236671:p.Ser207Phe	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	251	25	NM_001909	0	2	1770	1982	210	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.1|22.1	4.239075|4.239075	0.79800|0.79800	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213;ENST00000367196	.|T;T;T	.|0.65178	.|-0.14;0.21;0.01	4.11|4.11	4.11|4.11	0.48088|0.48088	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.241522	.|0.43110	.|D	.|0.000605	D|D	0.87803|0.87803	0.6269|0.6269	H|H	0.99238|0.99238	4.48|4.48	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	D|D	0.93421|0.93421	0.6777|0.6777	5|10	.|0.87932	.|D	.|0	.|.	16.5345|16.5345	0.84369|0.84369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|207	.|P07339	.|CATD_HUMAN	S|F	78|207;192;172	.|ENSP00000236671:S207F;ENSP00000415036:S192F;ENSP00000356164:S172F	.|ENSP00000236671:S207F	P|S	-|-	1|2	0|0	RP11-295K3.1|CTSD	1735214|1735214	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.633000|0.633000	0.38033|0.38033	8.532000|8.532000	0.90613|0.90613	2.129000|2.129000	0.65627|0.65627	0.472000|0.472000	0.43445|0.43445	CCG|TCC	.		0.597	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		A	1778638	G	A	1778638	3	1	6	1	0	0	0	0	1	0	0	0	4041	1174	41	3	638	3	CTSD	11	1778638	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		1778638	133227878	81	1208											
OR56B1	387748	bcgsc.ca	37	chr11	5758051	5758051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgatgccaaggttattaGcctccctgagtgctttgctc	10	10	0	2	rs75758940	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:5758051G>A	ENST00000317121.3	+	1	371	c.305G>A	c.(304-306)aGc>aAc	p.S102N	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	102						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(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AAGGTTATTAGCCTCCCTGAG	0.448													G|||	97	0.019369	0	0.0922	5008	,	,		21787	0.0298		0.001	False		,,,				2504	0.002				p.S102N		.											.	OR56B1-69	0			c.G305A						.	G	ASN/SER	3,4399	6.2+/-15.9	0,3,2198	177	157	164		305	5	0.8	11	dbSNP_131	164	10,8584	7.1+/-27.0	0,10,4287	yes	missense	OR56B1	NM_001005180.2	46	0,13,6485	AA,AG,GG		0.1164,0.0682,0.1	possibly-damaging	102/325	5758051	13,12983	2201	4297	6498	SO:0001583	missense	387748	exon1			TTATTAGCCTCCC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.305G>A	11.37:g.5758051G>A	ENSP00000322939:p.Ser102Asn	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	127	7	NM_001005180	0	0	0	0	0	B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	CCDS31395.1	46	0.021062271062271064	0	0.0	29	0.08011049723756906	16	0.027972027972027972	1	0.0013192612137203166	G	13.27	2.187142	0.38609	6.82E-4	0.001164	ENSG00000181023	ENST00000317121	T	0.00737	5.76	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	U	0.000060	T	0.00144	0.0004	M	0.90814	3.15	0.25401	N	0.988445	B	0.24043	0.096	B	0.27170	0.077	T	0.28839	-1.0031	10	0.29301	T	0.29	-13.4881	13.4681	0.61268	0.0:0.2995:0.7005:0.0	.	102	Q8NGI3	O56B1_HUMAN	N	102	ENSP00000322939:S102N	ENSP00000322939:S102N	S	+	2	0	OR56B1	5714627	0.001000	0.12720	0.819000	0.32651	0.741000	0.42261	1.117000	0.31234	1.495000	0.48549	0.655000	0.94253	AGC	G|0.992;A|0.008		0.448	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		A	5758051	G	A	5758051	3	1	6	1	0	0	0	0	1	0	0	0	11176	971	34	3	307	3	OR56B1	11	5758051	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	3979413	5758051	129248465	82	1209											
WT1	7490	hgsc.bcm.edu	37	chr11	32456694	32456694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagcccatttgctgCggctcagacccggacgcccc	12	17	1	1	rs2234582	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1_ENST00000448076.3_Silent_p.P66P	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2	3	3		198,198,198	1.2	0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456694	C	A	32456694	2	1	6	1	0	0	0	0	0	0	0	1	17457	755	27	2		2	WT1	11	32456694	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	26698643	32456694	102549822	83	1210											
AMBRA1	55626	hgsc.bcm.edu	37	chr11	46419411	46419411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctcccgctgcaccacGgctgtcatgccgccctccgc	9	21	2	0	rs12295608	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:46419411G>A	ENST00000458649.2	-	18	3904	c.3486C>T	c.(3484-3486)gcC>gcT	p.A1162A	AMBRA1_ENST00000314845.3_Silent_p.A1072A|AMBRA1_ENST00000534300.1_Silent_p.A1102A|AMBRA1_ENST00000533727.1_Silent_p.A1043A|AMBRA1_ENST00000426438.1_Silent_p.A1133A|AMBRA1_ENST00000528950.1_Silent_p.A1133A|AMBRA1_ENST00000298834.3_Silent_p.A1102A			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1162					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)		GCTGCACCACGGCTGTCATGC	0.617													G|||	354	0.0706869	0.2557	0.0187	5008	,	,		18253	0.001		0.002	False		,,,				2504	0				p.A1165A		.											.	AMBRA1-136	0			c.C3495T						.	G		950,3454	358.4+/-314.3	119,712,1371	64	49	54		3216	-8.3	0.5	11	dbSNP_120	54	6,8592	4.3+/-15.6	0,6,4293	no	coding-synonymous	AMBRA1	NM_017749.2		119,718,5664	AA,AG,GG		0.0698,21.5713,7.3527		1072/1209	46419411	956,12046	2202	4299	6501	SO:0001819	synonymous_variant	55626	exon20			CACCACGGCTGTC	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.3486C>T	11.37:g.46419411G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	5	NM_001267782	0	0	37	47	10	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																				G|0.923;A|0.077		0.617	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		A	46419411	G	A	46419411	2	1	6	1	0	0	0	0	0	0	0	1	565	1103	39	1		1	AMBRA1	11	46419411	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	13962717	46419411	88587105	84	1211											
OR8H2	390151	broad.mit.edu	37	chr11	55873285	55873285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttttatagcactctgaTttttacttatttaaaaccaa	2	8	2	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:55873285T>C	ENST00000313503.1	+	1	767	c.767T>C	c.(766-768)aTt>aCt	p.I256T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGCACTCTGATTTTTACTTAT	0.368										HNSCC(53;0.14)																											p.I256T		.											.	OR8H2-70	0			c.T767C						.						83	85	84					11																	55873285		2201	4296	6497	SO:0001583	missense	390151	exon1			CTCTGATTTTTAC	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.767T>C	11.37:g.55873285T>C	ENSP00000323982:p.Ile256Thr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	78	3	NM_001005200	0	0	0	0	0	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	N	5.594	0.294346	0.10567	.	.	ENSG00000181767	ENST00000313503	T	0.40756	1.02	3.58	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.239764	0.29876	N	0.010969	T	0.41903	0.1179	L	0.61036	1.89	0.09310	N	1	P	0.38535	0.635	P	0.44811	0.461	T	0.31420	-0.9944	10	0.56958	D	0.05	.	6.2867	0.21037	0.0:0.0845:0.3049:0.6106	.	256	Q8N162	OR8H2_HUMAN	T	256	ENSP00000323982:I256T	ENSP00000323982:I256T	I	+	2	0	OR8H2	55629861	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.816000	0.27267	0.076000	0.16826	-0.611000	0.04053	ATT	.		0.368	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		C	55873285	T	C	55873285	3	2	6	1	0	0	0	0	1	0	0	0	11277	1493	52	4	769	4	OR8H2	11	55873285	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	9453874	55873285	79133231	85	1212											
TMEM223	79064	hgsc.bcm.edu	37	chr11	62559437	62559437	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcacggctagcagcccCgtgggccatcgcctccaagg	13	17	0	0	rs375107993	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:62559437C>G	ENST00000307366.7	-	1	56	c.30G>C	c.(28-30)acG>acC	p.T10T	TMEM223_ENST00000525631.1_Silent_p.T10T|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	10						integral component of membrane (GO:0016021)											CTAGCAGCCCCGTGGGCCATC	0.726													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		12223	0		0	False		,,,				2504	0				p.T10T		.											.	.	0			c.G30C						.	C		76,3742		0,76,1833	8	11	10		30	-2.6	0	11		10	0,8118		0,0,4059	no	coding-synonymous	TMEM223	NM_001080501.2		0,76,5892	GG,GC,CC		0.0,1.9906,0.6367		10/203	62559437	76,11860	1909	4059	5968	SO:0001819	synonymous_variant	79064	exon1			CAGCCCCGTGGGC		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.30G>C	11.37:g.62559437C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	9	NM_001080501	0	0	10	29	19	Q504S0|Q86YD4|Q8WUC5|Q96HG0	Silent	SNP	ENST00000307366.7	37	CCDS44628.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373402	0.11409	0.019906	0.0	ENSG00000168569	ENST00000528367	.	.	.	4.06	-2.56	0.06268	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.22103	-1.0226	4	.	.	.	7.1604	1.4337	0.02339	0.1557:0.3399:0.3055:0.1989	.	.	.	.	R	10	.	.	G	-	1	0	TMEM223	62316013	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.442000	0.01014	-0.440000	0.07211	-0.258000	0.10820	GGG	.		0.726	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			G	62559437	C	G	62559437	2	3	6	1	0	0	0	0	0	0	0	1	16193	639	23	2		2	TMEM223	11	62559437	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	6686152	62559437	72447079	86	1213											
PPP2R1B	5519	broad.mit.edu;bcgsc.ca	37	chr11	111626120	111626120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaaggtcatcctgagAcaataactgggcaatactga	9	9	2	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr11:111626120A>G	ENST00000527614.1	-	6	807	c.742T>C	c.(742-744)Tct>Cct	p.S248P	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.S184P|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.S248P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.S248P|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.S121P|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.S87P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	248					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCATCCTGAGACAATAACTGG	0.443																																					p.S248P		.											.	PPP2R1B-658	0			c.T742C						.						128	99	109					11																	111626120		2201	4297	6498	SO:0001583	missense	5519	exon6			CCTGAGACAATAA	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.742T>C	11.37:g.111626120A>G	ENSP00000437193:p.Ser248Pro	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	124	5	NM_001177562	0	0	8	9	1	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	A	4.352	0.064814	0.08388	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.30182	3.25;3.25;3.25;3.25;3.25;1.54	5.65	0.477	0.16784	Armadillo-like helical (1);Armadillo-type fold (1);	0.289213	0.39407	N	0.001366	T	0.05273	0.0140	N	0.00611	-1.325	0.31999	N	0.603606	B;B;B;B;B;B	0.10296	0.0;0.0;0.001;0.0;0.0;0.003	B;B;B;B;B;B	0.08055	0.001;0.003;0.002;0.002;0.0;0.002	T	0.26326	-1.0106	10	0.02654	T	1	-1.1532	0.6589	0.00839	0.3981:0.1511:0.27:0.1807	.	121;248;87;184;248;248	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	P	248;121;184;248;87;248;121	ENSP00000311344:S248P;ENSP00000410671:S184P;ENSP00000437193:S248P;ENSP00000415759:S87P;ENSP00000343317:S248P;ENSP00000376775:S121P	ENSP00000311344:S248P	S	-	1	0	PPP2R1B	111131330	1.000000	0.71417	0.464000	0.27143	0.965000	0.64279	2.733000	0.47360	0.100000	0.17581	0.533000	0.62120	TCT	.		0.443	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		G	111626120	A	G	111626120	3	3	6	1	0	0	0	0	1	0	0	0	12425	275	10	4	1326	4	PPP2R1B	11	111626120	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	49066683	111626120	23380396	87	1214											
EFCAB4B	84766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	3805999	3805999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtctgaaagaactccTgtgccttcctcagcatgact	8	13	2	3			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:3805999T>A	ENST00000252322.1	-	4	635	c.167A>T	c.(166-168)cAg>cTg	p.Q56L	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Q56L|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q56L	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		56	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAAGAACTCCTGTGCCTTCCT	0.587																																					p.Q56L		.											.	EFCAB4B-92	0			c.A167T						.						137	96	110					12																	3805999		2203	4300	6503	SO:0001583	missense	84766	exon4			AACTCCTGTGCCT																												ENST00000252322.1:c.167A>T	12.37:g.3805999T>A	ENSP00000252322:p.Gln56Leu	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	138	33	NM_001144958	0	0	0	0	0	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981878	0.34942	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.70516	2.01;-0.49;2.01	5.57	5.57	0.84162	EF-hand-like domain (1);	0.237591	0.42964	D	0.000621	T	0.65260	0.2674	L	0.35487	1.065	0.37876	D	0.930221	B;B;P	0.52842	0.15;0.063;0.956	B;B;P	0.47528	0.053;0.033;0.549	T	0.70583	-0.4832	10	0.46703	T	0.11	-23.6861	12.1393	0.53989	0.0:0.0:0.0:1.0	.	56;56;56	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	L	56	ENSP00000409382:Q56L;ENSP00000412496:Q56L;ENSP00000252322:Q56L	ENSP00000252322:Q56L	Q	-	2	0	EFCAB4B	3676260	1.000000	0.71417	0.983000	0.44433	0.141000	0.21300	3.585000	0.53943	2.115000	0.64714	0.523000	0.50628	CAG	.		0.587	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			A	3805999	T	A	3805999	3	1	6	1	0	0	0	0	1	0	0	0	4951	1580	55	5	2288	5	EFCAB4B	12	3805999	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10		3805999	130045896	88	1215											
C1RL	51279	broad.mit.edu;bcgsc.ca	37	chr12	7260847	7260847	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccccatccccagctcacTgtgacagagtcccctgcaca	6	21	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:7260847T>C	ENST00000266542.4	-	2	392	c.300A>G	c.(298-300)acA>acG	p.T100T	C1RL-AS1_ENST00000382215.3_RNA|C1RL_ENST00000545337.1_Splice_Site_p.T100T|C1RL_ENST00000544702.1_Splice_Site_p.T100T|C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000536679.1_RNA|C1RL_ENST00000545280.1_Intron|C1RL-AS1_ENST00000541775.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	100	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCAGCTCACTGTGACAGAGT	0.652																																					p.T100T		.											.	C1RL-91	0			c.A300G						.						31	32	31					12																	7260847		2203	4300	6503	SO:0001630	splice_region_variant	51279	exon2			GCTCACTGTGACA	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.300+1A>G	12.37:g.7260847T>C		Somatic	48	1		WXS	Illumina GAIIx	Phase_I	70	5	NM_016546	0	0	4	4	0	Q53GX9	Silent	SNP	ENST00000266542.4	37	CCDS8573.1																																																																																			.		0.652	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	Silent	C	7260847	T	C	7260847	5	2	6	1	0	0	0	0	0	0	1	0	1980	1594	55	4	1183	4	C1RL	12	7260847	Splice_Site	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	3454848	7260847	126591048	89	1216											
CLEC4E	26253	bcgsc.ca	37	chr12	8691875	8691875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaaactttttctcaTcacaggtttgaaagatgcga	9	7	2	3	rs79940141	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:8691875T>C	ENST00000299663.3	-	3	323	c.158A>G	c.(157-159)gAt>gGt	p.D53G	CLEC4E_ENST00000446457.2_Missense_Mutation_p.D53G|CLEC4E_ENST00000545274.1_Missense_Mutation_p.D53G	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	53					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CTTTTTCTCATCACAGGTTTG	0.348													T|||	36	0.0071885	0.0257	0.0029	5008	,	,		-128	0		0	False		,,,				2504	0				p.D53G		.											.	CLEC4E-90	0			c.A158G						.	T	GLY/ASP	126,4280	92.0+/-130.7	4,118,2081	134	136	136		158	0.3	0	12	dbSNP_131	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CLEC4E	NM_014358.2	94	4,119,6380	CC,CT,TT		0.0116,2.8597,0.9765	benign	53/220	8691875	127,12879	2203	4300	6503	SO:0001583	missense	26253	exon3			TTCTCATCACAGG	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"C-type lectin domain containing"	14555	protein-coding gene	gene with protein product		609962	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.158A>G	12.37:g.8691875T>C	ENSP00000299663:p.Asp53Gly	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	154	7	NM_014358	0	0	5	5	0	B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	CCDS8594.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	T	5.318	0.244004	0.10077	0.028597	1.16E-4	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.37235	4.17;1.21	3.92	0.321	0.15883	C-type lectin-like (1);	0.559563	0.16337	N	0.218864	T	0.04318	0.0119	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23440	-1.0188	10	0.18710	T	0.47	.	5.8709	0.18802	0.0:0.36:0.0:0.64	.	53	Q9ULY5	CLC4E_HUMAN	G	53	ENSP00000299663:D53G;ENSP00000443034:D53G	ENSP00000299663:D53G	D	-	2	0	CLEC4E	8583142	0.145000	0.22656	0.002000	0.10522	0.073000	0.16967	-0.131000	0.10482	0.051000	0.15978	0.533000	0.62120	GAT	T|0.991;C|0.009		0.348	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		C	8691875	T	C	8691875	3	2	6	1	0	0	0	0	1	0	0	0	3522	1435	50	4	517	4	CLEC4E	12	8691875	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	1431028	8691875	125160020	90	1217											
BCAT1	586	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	24989464	24989464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccactgatgtgccaggtccAgaatgcaccgccttgtcact	9	15	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:24989464A>G	ENST00000261192.7	-	8	1410	c.884T>C	c.(883-885)cTg>cCg	p.L295P	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.L294P|BCAT1_ENST00000342945.5_Missense_Mutation_p.L234P|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000539282.1_Missense_Mutation_p.L307P|BCAT1_ENST00000539780.1_Missense_Mutation_p.L258P	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	295					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TGCCAGGTCCAGAATGCACCG	0.413																																					p.L307P		.											.	BCAT1-522	0			c.T920C						.						69	66	67					12																	24989464		1916	4122	6038	SO:0001583	missense	586	exon8			AGGTCCAGAATGC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.884T>C	12.37:g.24989464A>G	ENSP00000261192:p.Leu295Pro	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_001178093	0	0	2	2	0	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059333	0.76074	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.11	5.11	0.69529	.	0.083454	0.49916	D	0.000134	T	0.71592	0.3358	H	0.98314	4.2	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	0.995;0.996;0.995;0.998;0.998	D	0.83931	0.0306	10	0.87932	D	0	-25.8717	15.2341	0.73416	1.0:0.0:0.0:0.0	.	258;307;234;295;294	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	P	295;294;234;307;258	ENSP00000261192:L295P;ENSP00000440817:L294P;ENSP00000339805:L234P;ENSP00000443459:L307P;ENSP00000440827:L258P	ENSP00000261192:L295P	L	-	2	0	BCAT1	24880731	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.840000	0.86819	2.054000	0.61138	0.528000	0.53228	CTG	.		0.413	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		G	24989464	A	G	24989464	3	3	6	1	0	0	0	0	1	0	0	0	1355	188	7	4	292	4	BCAT1	12	24989464	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	16297589	24989464	108862431	91	1218											
KRT6B	3854	bcgsc.ca	37	chr12	52841765	52841765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcagcatcagcaatggcGgcctgtaggttggcacacta	12	11	2	0	rs388626	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:52841765G>A	ENST00000252252.3	-	7	1268	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	407	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAGCAATGGCGGCCTGTAGGT	0.537													G|||	2592	0.517572	0.4781	0.572	5008	,	,		21821	0.6825		0.505	False		,,,				2504	0.3753				p.A407A		.											.	KRT6B-92	0			c.C1221T						.	G		1978,2428	558.4+/-380.0	438,1102,663	74	68	70		1221	-4.8	0	12	dbSNP_80	70	4228,4372	571.5+/-389.6	1031,2166,1103	no	coding-synonymous	KRT6B	NM_005555.3		1469,3268,1766	AA,AG,GG		49.1628,44.8933,47.7164		407/565	52841765	6206,6800	2203	4300	6503	SO:0001819	synonymous_variant	3854	exon7			AATGGCGGCCTGT	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1221C>T	12.37:g.52841765G>A		Somatic	179	2		WXS	Illumina GAIIx	Phase_I	257	8	NM_005555	0	0	0	0	0	P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																			G|0.488;A|0.512		0.537	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		A	52841765	G	A	52841765	2	1	6	1	0	0	0	0	0	0	0	1	8508	1103	39	1		1	KRT6B	12	52841765	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	27852301	52841765	81010130	92	1219											
GTSF1	121355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54854183	54854183	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttccatggcagaacataCggcagagatttgggaactcg	11	8	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:54854183C>A	ENST00000552397.1	-	7	1361	c.465G>T	c.(463-465)ccG>ccT	p.P155P	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Silent_p.P155P			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	155						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GCAGAACATACGGCAGAGATT	0.383																																					p.P155P		.											.	GTSF1-90	0			c.G465T						.						117	113	115					12																	54854183		2203	4300	6503	SO:0001819	synonymous_variant	121355	exon7			AACATACGGCAGA	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.465G>T	12.37:g.54854183C>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	146	29	NM_144594	0	0	0	0	0	B3KQ60|Q0VGM4|Q8N778	Silent	SNP	ENST00000552397.1	37	CCDS8881.1																																																																																			C|1.000;T|0.000		0.383	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		A	54854183	C	A	54854183	2	1	6	1	0	0	0	0	0	0	0	1	6913	523	19	2		2	GTSF1	12	54854183	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	2012418	54854183	78997712	93	1220											
NAP1L1	4673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	76447086	76447086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtttctgcttcttcttaataGttttcaaagtgacattcttt	5	7	5	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:76447086G>C	ENST00000261182.8	-	10	1301	c.815C>G	c.(814-816)aCt>aGt	p.T272S	NAP1L1_ENST00000542344.1_Missense_Mutation_p.T230S|NAP1L1_ENST00000431879.3_Missense_Mutation_p.T204S|NAP1L1_ENST00000552342.1_Missense_Mutation_p.T283S|NAP1L1_ENST00000548044.1_Missense_Mutation_p.T231S|NAP1L1_ENST00000393263.3_Missense_Mutation_p.T272S|NAP1L1_ENST00000549596.1_Missense_Mutation_p.T272S|NAP1L1_ENST00000535020.2_Missense_Mutation_p.T272S|NAP1L1_ENST00000547773.1_Missense_Mutation_p.T209S|NAP1L1_ENST00000544816.1_Missense_Mutation_p.T89S|NAP1L1_ENST00000547993.1_Missense_Mutation_p.T89S	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	272					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)				CTTCTTAATAGTTTTCAAAGT	0.358																																					p.T272S		.											.	NAP1L1-92	0			c.C815G						.						130	133	132					12																	76447086		2203	4300	6503	SO:0001583	missense	4673	exon10			TTAATAGTTTTCA		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.815C>G	12.37:g.76447086G>C	ENSP00000261182:p.Thr272Ser	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	189	11	NM_004537	0	0	428	486	58	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203603	0.95033	.	.	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	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.61703	1.905	0.80722	D	1	D;P;D;P;B;P;P	0.54047	0.964;0.767;0.964;0.949;0.099;0.511;0.9	P;P;P;P;P;B;P	0.59115	0.852;0.752;0.852;0.752;0.507;0.373;0.589	T	0.57717	-0.7763	10	0.51188	T	0.08	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	272;230;283;272;204;209;272	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	S	272;266;272;204;209;89;230;272;272;89;283;231	ENSP00000261182:T272S;ENSP00000450236:T266S;ENSP00000376947:T272S;ENSP00000409795:T204S;ENSP00000448167:T209S;ENSP00000437507:T89S;ENSP00000444759:T230S;ENSP00000445008:T272S;ENSP00000447793:T272S;ENSP00000448007:T89S;ENSP00000447196:T283S;ENSP00000449649:T231S	ENSP00000261182:T272S	T	-	2	0	NAP1L1	74733353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.848000	0.99507	2.828000	0.97474	0.650000	0.86243	ACT	.		0.358	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		C	76447086	G	C	76447086	3	2	6	1	0	0	0	0	1	0	0	0	10194	1029	36	3	384	3	NAP1L1	12	76447086	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	21592903	76447086	57404809	94	1221											
CEP290	80184	ucsc.edu;bcgsc.ca	37	chr12	88478595	88478595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagtatattttgttctGctaaccttaaagcagattct	6	7	2	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:88478595G>T	ENST00000552810.1	-	35	4815	c.4472C>A	c.(4471-4473)gCa>gAa	p.A1491E	CEP290_ENST00000547691.2_Missense_Mutation_p.A551E|CEP290_ENST00000397838.3_Missense_Mutation_p.A551E|CEP290_ENST00000309041.7_Missense_Mutation_p.A1493E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1491					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						ATTTTGTTCTGCTAACCTTAA	0.338																																					p.A1491E		.											.	CEP290-96	0			c.C4472A						.						69	61	64					12																	88478595		1813	4071	5884	SO:0001583	missense	80184	exon35			TGTTCTGCTAACC	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.4472C>A	12.37:g.88478595G>T	ENSP00000448012:p.Ala1491Glu	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	21	4	NM_025114	0	0	1	1	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890854	0.91889	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.67865	0.34;-0.29;-0.29;0.34	5.48	5.48	0.80851	.	0.050606	0.85682	D	0.000000	T	0.74665	0.3746	L	0.56769	1.78	0.51233	D	0.999915	D	0.69078	0.997	P	0.62491	0.903	T	0.68017	-0.5520	10	0.02654	T	1	.	19.7133	0.96105	0.0:0.0:1.0:0.0	.	1491	O15078	CE290_HUMAN	E	551;1491;1493;551	ENSP00000446905:A551E;ENSP00000448012:A1491E;ENSP00000308021:A1493E;ENSP00000380938:A551E	ENSP00000308021:A1493E	A	-	2	0	CEP290	87002726	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.357000	0.79456	2.725000	0.93324	0.655000	0.94253	GCA	.		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		T	88478595	G	T	88478595	3	4	6	1	0	0	0	0	1	0	0	0	3260	1319	46	3	3047	3	CEP290	12	88478595	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	12031509	88478595	45373300	95	1222											
RPH3A	22895	ucsc.edu;bcgsc.ca	37	chr12	113285539	113285539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaccccggtggtcagcCtgacaggcagaggaagcagg	15	13	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:113285539C>A	ENST00000389385.4	+	5	619	c.122C>A	c.(121-123)cCt>cAt	p.P41H	RPH3A_ENST00000420983.2_Missense_Mutation_p.P41H|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000551052.1_Missense_Mutation_p.P37H|RPH3A_ENST00000415485.3_Missense_Mutation_p.P41H|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.P41H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	41					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)		GGTGGTCAGCCTGACAGGCAG	0.532																																					p.P41H		.											.	RPH3A-519	0			c.C122A						.						77	71	73					12																	113285539		2203	4300	6503	SO:0001583	missense	22895	exon5			GTCAGCCTGACAG	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.122C>A	12.37:g.113285539C>A	ENSP00000374036:p.Pro41His	Somatic	245	2		WXS	Illumina GAIIx	Phase_I	328	49	NM_001143854	0	0	0	0	0	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488039	0.26686	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	T;T;T;T;T	0.63417	-0.03;-0.03;-0.04;-0.03;-0.03	5.07	4.15	0.48705	Rabphilin-3A effector, zinc-binding (1);	0.258783	0.27371	N	0.019672	T	0.52757	0.1754	L	0.47716	1.5	0.29240	N	0.872705	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.46978	-0.9152	9	.	.	.	.	11.9026	0.52692	0.1908:0.8092:0.0:0.0	.	41;41;37	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	H	41;41;41;41;41;41;41;41;41;41;41;41;37;41;41;41	ENSP00000440384:P41H;ENSP00000374036:P41H;ENSP00000448297:P37H;ENSP00000405357:P41H;ENSP00000408889:P41H	.	P	+	2	0	RPH3A	111769922	0.270000	0.24152	0.146000	0.22360	0.474000	0.32979	2.136000	0.42121	1.174000	0.42811	0.655000	0.94253	CCT	.		0.532	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113285539	C	A	113285539	3	1	6	1	0	0	0	0	1	0	0	0	13596	681	24	3	132	3	RPH3A	12	113285539	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	24806944	113285539	20566356	96	1223											
PITPNM2	57605	hgsc.bcm.edu	37	chr12	123480124	123480132	+	In_Frame_Del	DEL	GCCACCACC	GCCACCACC	-													ctgccaccaccaccactgctGccaccaccgccaccgccgcc					rs372515303|rs528475926|rs150324875	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	GCCACCACC	GCCACCACC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr12:123480124_123480132delGCCACCACC	ENST00000542749.1	-	12	1921_1929	c.1858_1866delGGTGGTGGC	c.(1858-1866)ggtggtggcdel	p.GGG620del	PITPNM2_ENST00000320201.4_In_Frame_Del_p.GGG620del|PITPNM2_ENST00000392428.1_In_Frame_Del_p.GGG341del|PITPNM2_ENST00000280562.5_In_Frame_Del_p.GGG620del			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	620	Gly-rich.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		caccactgctgccaccaccgccaccgccg	0.67														235	0.0469249	0.1694	0.0115	5008	,	,		15035	0.002		0.001	False		,,,				2504	0				p.620_622del		.											.	PITPNM2-228	0			c.1858_1866del						.			565,3573		81,403,1585						-2.4	0		dbSNP_129	31	51,8067		16,19,4024	no	coding	PITPNM2	NM_020845.2		97,422,5609	A1A1,A1R,RR		0.6282,13.6539,5.0261				616,11640				SO:0001651	inframe_deletion	57605	exon13			ACTGCTGCCACCA	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1858_1866delGGTGGTGGC	12.37:g.123480124_123480132delGCCACCACC	ENSP00000437611:p.Gly620_Gly622del	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	86	32	NM_020845	0	0	0	0	0	Q9P271	In_Frame_Del	DEL	ENST00000542749.1	37	CCDS9242.1																																																																																			.		0.67	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		-	123480132	GCCACCACC	-	123480124	7	5	6	1	0	1	0	1	0	0	0	0	11990	1306	46	0	2235	0	PITPNM2	12	123480124	In_Frame_Del	DEL	GCCACCACC	TCGA-OR-A5J6-01A-31D-A29I-10	10194585	123480124	10371771	97	1224											
OXGR1	27199	bcgsc.ca	37	chr13	97639827	97639827	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcttccaaggtcTcattttgaaaatgtaagtgg	11	7	2	1	rs9300380	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr13:97639827T>G	ENST00000298440.1	-	4	430	c.187A>C	c.(187-189)Aga>Cga	p.R63R	OXGR1_ENST00000543457.1_Silent_p.R63R	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	63					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)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTCCAAGGTCTCATTTTGAAA	0.473													G|||	317	0.0632987	0.2118	0.0288	5008	,	,		21471	0		0.0169	False		,,,				2504	0				p.R63R		.											.	OXGR1-70	0			c.A187C						.	G		815,3591	747.9+/-411.9	74,667,1462	121	113	116		187	3.3	1	13	dbSNP_119	116	83,8517	815.3+/-407.0	0,83,4217	no	coding-synonymous	OXGR1	NM_080818.3		74,750,5679	GG,GT,TT		0.9651,18.4975,6.9045		63/338	97639827	898,12108	2203	4300	6503	SO:0001819	synonymous_variant	27199	exon4			AAGGTCTCATTTT	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.187A>C	13.37:g.97639827T>G		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	182	8	NM_080818	0	0	0	0	0	Q5T5A7|Q86TL1	Silent	SNP	ENST00000298440.1	37	CCDS9482.1																																																																																			T|0.939;G|0.061		0.473	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		G	97639827	T	G	97639827	2	3	6	1	0	0	0	0	0	0	0	1	11371	1559	54	5		5	OXGR1	13	97639827	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10		97639827	17530051	98	1225											
CARS2	79587	ucsc.edu	37	chr13	111340101	111340101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagcgttcccacgagcaaTgattccttcaatgaaagaaa	7	9	1	3	rs72661692	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr13:111340101T>C	ENST00000257347.4	-	5	601	c.538A>G	c.(538-540)Att>Gtt	p.I180V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	180					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCACGAGCAATGATTCCTTCA	0.408																																					p.I180V		.											.	CARS2-90	0			c.A538G						.						189	200	196					13																	111340101		2203	4300	6503	SO:0001583	missense	79587	exon5			GAGCAATGATTCC	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.538A>G	13.37:g.111340101T>C	ENSP00000257347:p.Ile180Val	Somatic	75	1		WXS	Illumina GAIIx	Phase_I	84	13	NM_024537	0	0	36	48	12	Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698995	0.30142	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.33438	1.41	4.71	0.802	0.18686	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.43598	1.365	0.48511	D	0.999668	B	0.20368	0.044	B	0.26864	0.074	T	0.06391	-1.0829	10	0.22706	T	0.39	-13.4943	5.3662	0.16115	0.0:0.159:0.1511:0.6899	.	180	Q9HA77	SYCM_HUMAN	V	180;171	ENSP00000257347:I180V	ENSP00000257347:I180V	I	-	1	0	CARS2	110138102	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	3.482000	0.53186	-0.028000	0.13850	0.455000	0.32223	ATT	T|0.929;A|0.071		0.408	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		C	111340101	T	C	111340101	3	2	6	1	0	0	0	0	1	0	0	0	2665	1464	51	4	1200	4	CARS2	13	111340101	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	13700274	111340101	3829777	99	1226											
C14orf39	317761	bcgsc.ca	37	chr14	60903757	60903757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccttctggcttctcaaGtaagtttcctaaggaagata	7	9	3	1	rs1254319	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr14:60903757G>A	ENST00000321731.3	-	18	1729	c.1570C>T	c.(1570-1572)Ctt>Ttt	p.L524F		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	524				L -> F (in Ref. 1; BAC05253). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGCTTCTCAAGTAAGTTTCCT	0.299													A|||	2338	0.466853	0.5182	0.2406	5008	,	,		16553	0.6944		0.3012	False		,,,				2504	0.4939				p.L524F		.											.	C14orf39-94	0			c.C1570T						.	A	PHE/LEU	2181,2225	580.0+/-385.0	541,1099,563	102	114	110		1570	4	1	14	dbSNP_87	110	2535,6063	688.6+/-404.3	362,1811,2126	yes	missense	C14orf39	NM_174978.2	22	903,2910,2689	AA,AG,GG		29.4836,49.5007,36.2658	benign	524/588	60903757	4716,8288	2203	4299	6502	SO:0001583	missense	317761	exon18			TCTCAAGTAAGTT	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1570C>T	14.37:g.60903757G>A	ENSP00000324920:p.Leu524Phe	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	78	7	NM_174978	0	0	0	0	0	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	954	0.4368131868131868	243	0.49390243902439024	107	0.2955801104972376	385	0.6730769230769231	219	0.28891820580474936	A	0.031	-1.331798	0.01298	0.495007	0.294836	ENSG00000179008	ENST00000321731	T	0.15372	2.43	5.17	4.03	0.46877	.	0.103898	0.43260	N	0.000594	T	0.00012	0.0000	N	0.00104	-2.125	0.39087	P	0.03897099999999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43278	-0.9401	9	0.02654	T	1	-4.4151	8.9267	0.35646	0.8474:0.0:0.1526:0.0	rs1254319;rs57641575;rs1254319	524	Q8N1H7	S6OS1_HUMAN	F	524	ENSP00000324920:L524F	ENSP00000324920:L524F	L	-	1	0	C14orf39	59973510	1.000000	0.71417	0.998000	0.56505	0.458000	0.32498	4.268000	0.58883	0.307000	0.22880	-1.266000	0.01441	CTT	G|0.588;A|0.412		0.299	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60903757	G	A	60903757	3	1	6	1	0	0	0	0	1	0	0	0	1777	1029	36	3	197	3	C14orf39	14	60903757	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		60903757	46445783	100	1227											
AHNAK2	113146	broad.mit.edu	37	chr14	105412335	105412335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagacaccccgaacgaCggcatcttgaacttgggcat	13	12	1	2	rs202104959	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr14:105412335C>T	ENST00000333244.5	-	7	9572	c.9453G>A	c.(9451-9453)ccG>ccA	p.P3151P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P3151P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCGAACGACGGCATCTTGA	0.602																																					p.P3151P		.											.	AHNAK2-47	1	Substitution - coding silent(1)	endometrium(1)	c.G9453A						.						198	138	157					14																	105412335		1921	4005	5926	SO:0001819	synonymous_variant	113146	exon7			GAACGACGGCATC	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.9453G>A	14.37:g.105412335C>T		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	59	9	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.963;T|0.037		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412335	C	T	105412335	2	4	6	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105412335	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	44508578	105412335	1937205	101	1228											
AHNAK2	113146	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105417098	105417098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccctcggacacagggcCctctgggagtttcacgtcca	12	15	2	0			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr14:105417098C>T	ENST00000333244.5	-	7	4809	c.4690G>A	c.(4690-4692)Ggc>Agc	p.G1564S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1564						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)			GACACAGGGCCCTCTGGGAGT	0.617																																					p.G1564S		.											.	AHNAK2-47	0			c.G4690A						.						97	99	99					14																	105417098		1875	4059	5934	SO:0001583	missense	113146	exon7			CAGGGCCCTCTGG	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.4690G>A	14.37:g.105417098C>T	ENSP00000353114:p.Gly1564Ser	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	159	48	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.932166	0.34096	.	.	ENSG00000185567	ENST00000333244	T	0.00711	5.8	3.89	1.97	0.26223	.	.	.	.	.	T	0.01222	0.0040	L	0.39514	1.22	0.09310	N	1	D	0.54964	0.969	P	0.56042	0.79	T	0.36286	-0.9754	9	0.07482	T	0.82	.	5.9307	0.19138	0.0:0.6943:0.1972:0.1086	.	1564	Q8IVF2	AHNK2_HUMAN	S	1564	ENSP00000353114:G1564S	ENSP00000353114:G1564S	G	-	1	0	AHNAK2	104488143	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.039000	0.12124	0.587000	0.29643	0.485000	0.47835	GGC	.		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105417098	C	T	105417098	3	4	6	1	0	0	0	0	1	0	0	0	415	623	22	3	12701	3	AHNAK2	14	105417098	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	4763	105417098	1932442	102	1229											
GABRG3	2567	hgsc.bcm.edu	37	chr15	27216691	27216691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccacggcaccatggccccGaagctgctgctcctcctctg	9	19	1	0	rs28399525	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr15:27216691G>A	ENST00000333743.6	+	1	263	c.9G>A	c.(7-9)ccG>ccA	p.P3P	GABRG3_ENST00000555083.1_Silent_p.P3P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	3					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATGGCCCCGAAGCTGCTGC	0.771													G|||	114	0.0227636	0.0817	0.0086	5008	,	,		7697	0		0	False		,,,				2504	0				p.P3P	NSCLC(114;800 1656 7410 37729 45293)	.											.	.	0			c.G9A						.	G		113,2875		1,111,1382	4	7	6		9	-1.8	0.5	15	dbSNP_125	6	0,6116		0,0,3058	no	coding-synonymous	GABRG3	NM_033223.4		1,111,4440	AA,AG,GG		0.0,3.7818,1.2412		3/468	27216691	113,8991	1494	3058	4552	SO:0001819	synonymous_variant	2567	exon1			GGCCCCGAAGCTG		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.9G>A	15.37:g.27216691G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001270873	0	0	0	0	0	G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1																																																																																			G|0.972;A|0.028		0.771	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			A	27216691	G	A	27216691	2	1	6	1	0	0	0	0	0	0	0	1	6197	1045	37	1		1	GABRG3	15	27216691	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		27216691	75314701	103	1230											
FAM81A	145773	bcgsc.ca	37	chr15	59806609	59806609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcagctttccttgattGttaaggaaaacagtgtaggt	10	5	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr15:59806609G>T	ENST00000288228.5	+	7	959	c.772G>T	c.(772-774)Gtt>Ttt	p.V258F		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	258										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TTCCTTGATTGTTAAGGAAAA	0.343																																					p.V258F		.											.	FAM81A-91	0			c.G772T						.						110	112	112					15																	59806609		1789	4062	5851	SO:0001583	missense	145773	exon7			TTGATTGTTAAGG		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.772G>T	15.37:g.59806609G>T	ENSP00000288228:p.Val258Phe	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	65	6	NM_152450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000288228.5	37	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208423	0.22205	.	.	ENSG00000157470	ENST00000288228	T	0.75260	-0.92	5.77	1.68	0.24146	.	0.332477	0.26038	N	0.026715	T	0.51329	0.1668	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.23891	T	0.37	-3.013	2.0425	0.03553	0.2274:0.1258:0.5021:0.1448	.	258	Q8TBF8	FA81A_HUMAN	F	258	ENSP00000288228:V258F	ENSP00000288228:V258F	V	+	1	0	FAM81A	57593901	0.765000	0.28485	0.049000	0.19019	0.882000	0.50991	0.859000	0.27858	0.124000	0.18369	0.655000	0.94253	GTT	.		0.343	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		T	59806609	G	T	59806609	3	4	6	1	0	0	0	0	1	0	0	0	5650	1377	48	3	794	3	FAM81A	15	59806609	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	32589918	59806609	42724783	104	1231											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	6	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	3607474	63414083	39117309	105	1232											
MCTP2	55784	bcgsc.ca	37	chr15	94945719	94945719	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaatttcattcagcaccGcaaagaggaaccacccctgt	7	13	2	1	rs7178698	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr15:94945719G>T	ENST00000357742.4	+	16	2085				MCTP2_ENST00000331706.4_Missense_Mutation_p.R285L|MCTP2_ENST00000557742.1_Missense_Mutation_p.R285L|MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATTCAGCACCGCAAAGAGGAA	0.378													T|||	3107	0.620407	0.5499	0.6484	5008	,	,		19751	0.5089		0.8131	False		,,,				2504	0.6125				p.R285L		.											.	MCTP2-93	0			c.G854T						.	T	,LEU/ARG,	761,611		210,341,135	147	116	126		,854,	-2.4	0	15	dbSNP_116	126	2566,612		1037,492,60	yes	intron,missense,intron	MCTP2	NM_001159643.1,NM_001159644.1,NM_018349.3	,102,	1247,833,195	TT,TG,GG		19.2574,44.5335,26.8791	,,	,285/307,	94945719	3327,1223	686	1589	2275	SO:0001627	intron_variant	55784	exon10			AGCACCGCAAAGA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2085+471G>T	15.37:g.94945719G>T		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	135	5	NM_001159644	0	0	0	0	0	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	1421	0.6506410256410257	256	0.5203252032520326	250	0.6906077348066298	291	0.5087412587412588	624	0.8232189973614775	T	5.565	0.289024	0.10513	0.554665	0.807426	ENSG00000140563	ENST00000331706	T	0.64260	-0.09	4.39	-2.44	0.06502	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	7	0.11485	T	0.65	.	3.8968	0.09143	0.3508:0.0:0.3439:0.3053	rs7178698;rs57280670;rs7178698	285	Q6DN12-4	.	L	285	ENSP00000329646:R285L	ENSP00000329646:R285L	R	+	2	0	MCTP2	92746723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.547000	0.06055	-0.821000	0.04312	-1.962000	0.00476	CGC	G|0.358;T|0.642		0.378	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94945719	G	T	94945719	1	4	6	0	1	0	0	0	0	0	0	0	9439	1087	38	2		2	MCTP2	15	94945719	Intron	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	31531636	94945719	7585673	106	1233											
HBQ1	3049	hgsc.bcm.edu	37	chr16	230817	230817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccccacgcgctgtccgCgctgagccacctgcacgcgt	10	20	0	1	rs80294025	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr16:230817C>T	ENST00000199708.2	+	2	282	c.248C>T	c.(247-249)gCg>gTg	p.A83V	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	83					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCGCTGTCCGCGCTGAGCCAC	0.746													c|||	65	0.0129792	0.0477	0.0029	5008	,	,		8690	0		0	False		,,,				2504	0				p.A83V		.											.	HBQ1-90	0			c.C248T						.		VAL/ALA	129,4135		1,127,2004	10	10	10		248	2.5	0	16	dbSNP_131	10	2,8414		0,2,4206	no	missense	HBQ1	NM_005331.4	64	1,129,6210	TT,TC,CC		0.0238,3.0253,1.0331	benign	83/143	230817	131,12549	2132	4208	6340	SO:0001583	missense	3049	exon2			TGTCCGCGCTGAG	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.248C>T	16.37:g.230817C>T	ENSP00000199708:p.Ala83Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_005331	0	0	0	0	0	Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	37	CCDS10400.1	19	0.0086996336996337	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	0	0.0	c	10.73	1.432517	0.25813	0.030253	2.38E-4	ENSG00000086506	ENST00000199708	D	0.93366	-3.21	3.53	2.55	0.30701	Globin-like (1);Globin, structural domain (1);	0.502966	0.21928	N	0.067071	T	0.65811	0.2727	L	0.47716	1.5	0.09310	N	1	P	0.45396	0.857	B	0.33042	0.157	T	0.72547	-0.4260	10	0.62326	D	0.03	-0.535	6.4293	0.21788	0.3863:0.4482:0.1655:0.0	.	83	P09105	HBAT_HUMAN	V	83	ENSP00000199708:A83V	ENSP00000199708:A83V	A	+	2	0	HBQ1	170817	0.000000	0.05858	0.022000	0.16811	0.020000	0.10135	-0.794000	0.04584	0.804000	0.34136	0.556000	0.70494	GCG	C|0.988;T|0.012		0.746	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		T	230817	C	T	230817	3	4	6	1	0	0	0	0	1	0	0	0	7013	768	27	1	254	1	HBQ1	16	230817	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10		230817	90123936	107	1234											
BTBD12	84464	hgsc.bcm.edu	37	chr16	3646276	3646276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctggctggccgaaggcGacgggcccctggagccacag	15	16	1	0	rs59706816	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr16:3646276G>A	ENST00000294008.3	-	8	2442	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	601	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						GGCCGAAGGCGACGGGCCCCT	0.726								Direct reversal of damage					G|||	14	0.00279553	0.0098	0.0014	5008	,	,		14693	0		0	False		,,,				2504	0				p.S601L		.											.	SLX4-94	0			c.C1802T						.	G	LEU/SER	38,4274		0,38,2118	8	10	9		1802	1	0	16	dbSNP_129	9	0,8468		0,0,4234	no	missense	SLX4	NM_032444.2	145	0,38,6352	AA,AG,GG		0.0,0.8813,0.2973	possibly-damaging	601/1835	3646276	38,12742	2156	4234	6390	SO:0001583	missense	84464	exon8			GAAGGCGACGGGC	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.1802C>T	16.37:g.3646276G>A	ENSP00000294008:p.Ser601Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	52	20	NM_032444	0	0	0	0	0	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	10.18	1.278993	0.23307	0.008813	0.0	ENSG00000188827	ENST00000294008	T	0.21932	1.98	5.21	0.982	0.19762	.	1.352410	0.05110	N	0.488801	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B	0.22604	0.072	B	0.12156	0.007	T	0.20174	-1.0283	10	0.02654	T	1	.	3.8932	0.09128	0.3605:0.1758:0.4638:0.0	rs59706816	601	Q8IY92	SLX4_HUMAN	L	601	ENSP00000294008:S601L	ENSP00000294008:S601L	S	-	2	0	SLX4	3586277	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.570000	0.23653	0.201000	0.20466	0.561000	0.74099	TCG	G|0.996;A|0.004		0.726	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3646276	G	A	3646276	3	1	6	1	0	0	0	0	1	0	0	0	1544	1059	37	1	3734	1	BTBD12	16	3646276	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	3415459	3646276	86708477	108	1235											
TMC7	79905	bcgsc.ca	37	chr16	19067933	19067933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggtcatccccaagacGgtgagcaccttccccagctc	11	15	1	2	rs17854511	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr16:19067933G>A	ENST00000304381.5	+	14	2071	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	TMC7_ENST00000421369.3_Silent_p.T537T|TMC7_ENST00000569532.1_Silent_p.T647T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	647					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCCCAAGACGGTGAGCACCT	0.547													G|||	2360	0.471246	0.0946	0.5	5008	,	,		17901	0.754		0.6193	False		,,,				2504	0.5164				p.T647T		.											.	TMC7-93	0			c.G1941A						.	G	,	805,3589	321.5+/-297.2	66,673,1458	186	139	154		1611,1941	-11.6	0	16	dbSNP_123	154	5150,3450	637.3+/-399.2	1553,2044,703	no	coding-synonymous,coding-synonymous	TMC7	NM_001160364.1,NM_024847.3	,	1619,2717,2161	AA,AG,GG		40.1163,18.3204,45.8288	,	537/614,647/724	19067933	5955,7039	2197	4300	6497	SO:0001819	synonymous_variant	79905	exon14			CAAGACGGTGAGC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1941G>A	16.37:g.19067933G>A		Somatic	272	2		WXS	Illumina GAIIx	Phase_I	288	10	NM_024847	0	0	0	0	0	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	CCDS10573.1																																																																																			G|0.511;A|0.489		0.547	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		A	19067933	G	A	19067933	2	1	6	1	0	0	0	0	0	0	0	1	16037	1103	39	1		1	TMC7	16	19067933	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	15421657	19067933	71286820	109	1236											
SALL1	6299	hgsc.bcm.edu	37	chr16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCTGCT													gaggagctgccgccgccgccINSgctgctgctgctgctgctgc					rs113614842|rs199760974|rs372299573	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr16:51175655_51175656insGCTGCT	ENST00000251020.4	-	2	510_511	c.477_478insAGCAGC	c.(475-480)agcggc>agcAGCAGCggc	p.158_159insSS	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_In_Frame_Ins_p.61_62insSS|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629																																					p.G160delinsSSG	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.478_479insAGCAGC						.																																			SO:0001652	inframe_insertion	6299	exon2			CGCCGCCGCTGCT	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.472_477dupAGCAGC	16.37:g.51175656_51175661dupGCTGCT	ENSP00000251020:p.Ser157_Ser158dup	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	94	18	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	In_Frame_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																			-|0.500;GCC|0.250;GCT|0.250		0.629	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		GCTGCT	51175656	-	GCTGCT	51175655	7	5	6	1	0	1	1	0	0	0	0	0	13855	652	23	0	3504	0	SALL1	16	51175655	In_Frame_Ins	INS	-	TCGA-OR-A5J6-01A-31D-A29I-10	32107722	51175655	39179098	110	1237											
PKD1L2	114780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	81232405	81232405	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaatgagatggtgatcaAtaggtcctgtccaagctcca	10	10	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr16:81232405A>G	ENST00000525539.1	-	0	1404				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						ATGGTGATCAATAGGTCCTGT	0.542																																					p.L469L		.											.	PKD1L2-92	0			c.T1405C						.						112	115	114					16																	81232405		2013	4170	6183			114780	exon7			TGATCAATAGGTC	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.81232405A>G		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	174	50	NM_001076780	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																				.		0.542	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			G	81232405	A	G	81232405	1	3	6	0	1	0	0	0	0	0	0	0	12004	98	4	4		4	PKD1L2	16	81232405	RNA	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	30056750	81232405	9122348	111	1238											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000466740.2_RNA|AC108004.3_ENST00000599026.1_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	6	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10		260182	80935028	112	1239											
USP43	124739	hgsc.bcm.edu	37	chr17	9549360	9549360	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcgctaccgggcggcTccgggccgcgccgaggtcac	18	16	1	0	rs114382285	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:9549360T>G	ENST00000285199.7	+	1	507	c.411T>G	c.(409-411)gcT>gcG	p.A137A	USP43_ENST00000570475.1_Silent_p.A137A|RP11-55L4.2_ENST00000584676.1_RNA|RP11-55L4.1_ENST00000572923.1_RNA|USP43_ENST00000570827.2_Intron	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	137	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACCGGGCGGCTCCGGGCCGCG	0.672													G|||	423	0.0844649	0.2943	0.0288	5008	,	,		10691	0		0.005	False		,,,				2504	0.0092				p.A137A		.											.	USP43-637	0			c.T411G						.	G		463,2703		17,429,1137	2	3	3		411	0.1	0.3	17	dbSNP_132	3	18,6822		0,18,3402	no	coding-synonymous	USP43	NM_153210.3		17,447,4539	GG,GT,TT		0.2632,14.6241,4.8071		137/1124	9549360	481,9525	1583	3420	5003	SO:0001819	synonymous_variant	124739	exon1			GGCGGCTCCGGGC	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.411T>G	17.37:g.9549360T>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_001267576	0	0	0	0	0	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																			T|0.919;G|0.081		0.672	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		G	9549360	T	G	9549360	2	3	6	1	0	0	0	0	0	0	0	1	17123	1538	54	5		5	USP43	17	9549360	Silent	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	9289178	9549360	71645850	113	1240											
RNF135	84282	hgsc.bcm.edu	37	chr17	29298304	29298304	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccgcgcagcagccgcaCctgcggaagaacacgctact	13	16	0	1	rs7225888	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:29298304C>G	ENST00000328381.5	+	1	1086	c.213C>G	c.(211-213)caC>caG	p.H71Q	RNF135_ENST00000443677.2_Missense_Mutation_p.H71Q|RNF135_ENST00000324689.4_Missense_Mutation_p.H71Q|RNF135_ENST00000535306.2_Missense_Mutation_p.H71Q|RP11-848P1.2_ENST00000580979.1_RNA	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	71			H -> Q (in dbSNP:rs7225888). {ECO:0000269|PubMed:19291764}.		innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AGCAGCCGCACCTGCGGAAGA	0.751													G|||	1093	0.218251	0.7731	0.0548	5008	,	,		12060	0.001		0.0119	False		,,,				2504	0.0204				p.H71Q		.											.	RNF135-227	1	Unknown(1)	central_nervous_system(1)	c.C213G						.	G	GLN/HIS,GLN/HIS,GLN/HIS	1145,1729		129,887,421	2	2	2		213,213,213	3.5	0.1	17	dbSNP_116	2	39,5995		0,39,2978	yes	missense,missense,missense	RNF135	NM_001184992.1,NM_032322.3,NM_197939.1	24,24,24	129,926,3399	GG,GC,CC		0.6463,39.8399,13.2914	benign,benign,benign	71/287,71/433,71/211	29298304	1184,7724	1437	3017	4454	SO:0001583	missense	84282	exon1			GCCGCACCTGCGG	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.213C>G	17.37:g.29298304C>G	ENSP00000328340:p.His71Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_197939	0	0	0	3	3	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	CCDS11262.1	391	0.17902930402930403	360	0.7317073170731707	20	0.055248618784530384	1	0.0017482517482517483	10	0.013192612137203167	G	6.815	0.519408	0.13005	0.398399	0.006463	ENSG00000181481	ENST00000328381;ENST00000324689;ENST00000535306;ENST00000443677	T;T;T	0.53857	0.6;3.11;3.09	3.55	3.55	0.40652	Zinc finger, RING/FYVE/PHD-type (1);	1.724060	0.03994	N	0.295353	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46176	-0.9210	9	0.24483	T	0.36	0.0064	10.1192	0.42609	0.0:0.3977:0.6023:0.0	rs7225888;rs57782344;rs7225888	71;71;71;71	F5GX60;Q8IUD6-2;B2R7G9;Q8IUD6	.;.;.;RN135_HUMAN	Q	71;71;71;5	ENSP00000328340:H71Q;ENSP00000323693:H71Q;ENSP00000440470:H71Q	ENSP00000323693:H71Q	H	+	3	2	RNF135	26322430	0.001000	0.12720	0.139000	0.22197	0.013000	0.08279	-0.536000	0.06135	0.594000	0.29761	-0.365000	0.07479	CAC	C|0.810;G|0.190		0.751	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		G	29298304	C	G	29298304	3	3	6	1	0	0	0	0	1	0	0	0	13485	506	18	3	215	3	RNF135	17	29298304	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	19748944	29298304	51896906	114	1241											
SOCS7	30837	broad.mit.edu	37	chr17	36508662	36508663	+	In_Frame_Ins	INS	-	-	AGC													ggggcgcctgagtagaggggINSagcagcagcagcagcagcag					rs55849419|rs60453610|rs549479183|rs547838143	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:36508662_36508663insAGC	ENST00000577233.1	+	1	535_536	c.535_536insAGC	c.(535-537)gag>gAGCag	p.187_188insQ	SOCS7_ENST00000331159.5_In_Frame_Ins_p.187_188insQ	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	187	Mediates interaction with SORBS3.|Poly-Gln.|Poly-Pro.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.Q187delQ(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GAGTAGAGGGGagcagcagcag	0.703														199	0.0397364	0.115	0.0144	5008	,	,		13083	0		0.0149	False		,,,				2504	0.0225				p.E179delinsEQ		.											.	SOCS7-227	1	Deletion - In frame(1)	central_nervous_system(1)	c.535_536insAGC						.																																			SO:0001652	inframe_insertion	30837	exon1			AGAGGGGAGCAGC	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.557_559dupAGC	17.37:g.36508669_36508671dupAGC	ENSP00000464034:p.Gln187_Gln187dup	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	90	19	NM_014598	0	0	0	0	0	A2VCU2|Q0IJ63	In_Frame_Ins	INS	ENST00000577233.1	37	CCDS32637.1																																																																																			.		0.703	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		AGC	36508663	-	AGC	36508662	7	5	6	1	0	1	1	0	0	0	0	0	14964	1175	41	0	537	0	SOCS7	17	36508662	In_Frame_Ins	INS	-	TCGA-OR-A5J6-01A-31D-A29I-10	7210358	36508662	44686548	115	1242											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	12	15	2	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V		.											.	.	1	Substitution - Missense(1)	NS(1)	c.A346G						.						22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	229	8	NM_030967	0	0	0	0	0	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC	.		0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		C	39197304	T	C	39197304	3	2	6	1	0	0	0	0	1	0	0	0	8529	1406	49	4	191	4	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	2688642	39197304	41997906	116	1243											
G6PC3	92579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42153148	42153148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcaggggctgccctgGgcctgggcattgccttgcac	15	13	1	1	rs200478425		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr17:42153148G>A	ENST00000269097.4	+	6	1009	c.778G>A	c.(778-780)Ggc>Agc	p.G260S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	260			G -> R (in SCN4; loss of function). {ECO:0000269|PubMed:20220065, ECO:0000269|PubMed:20616219}.		carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCTGCCCTGGGCCTGGGCAT	0.632																																					p.G260S		.											.	G6PC3-91	0			c.G778A	GRCh37	CM090105	G6PC3	M		.						55	53	54					17																	42153148		2203	4300	6503	SO:0001583	missense	92579	exon6			GCCCTGGGCCTGG	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.778G>A	17.37:g.42153148G>A	ENSP00000269097:p.Gly260Ser	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	80	18	NM_138387	0	0	100	139	39	Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400942	0.96030	.	.	ENSG00000141349	ENST00000269097	T	0.80393	-1.37	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87633	0.2517	10	0.48119	T	0.1	-49.3741	16.1963	0.82029	0.0:0.0:1.0:0.0	.	260	Q9BUM1	G6PC3_HUMAN	S	260	ENSP00000269097:G260S	ENSP00000269097:G260S	G	+	1	0	G6PC3	39508674	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	8.003000	0.88520	2.818000	0.97014	0.655000	0.94253	GGC	.		0.632	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		A	42153148	G	A	42153148	3	1	6	1	0	0	0	0	1	0	0	0	6169	1232	43	3	800	3	G6PC3	17	42153148	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	2955844	42153148	39042062	117	1244											
EPB41L3	23136	bcgsc.ca	37	chr18	5410574	5410574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaataccaacctcagtggcAgtggtctccccgtcggctgc	10	14	2	0	rs3817466	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr18:5410574A>G	ENST00000341928.2	-	14	2452	c.2112T>C	c.(2110-2112)acT>acC	p.T704T	EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000400111.3_Silent_p.T535T|EPB41L3_ENST00000342933.3_Silent_p.T704T|EPB41L3_ENST00000540638.2_Silent_p.T535T|EPB41L3_ENST00000544123.1_Silent_p.T535T|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	704	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTCAGTGGCAGTGGTCTCCC	0.537													G|||	3564	0.711661	0.2791	0.8156	5008	,	,		17791	0.9177		0.9135	False		,,,				2504	0.8027				p.T704T		.											.	EPB41L3-95	0			c.T2112C						.						102	68	79					18																	5410574		2203	4300	6503	SO:0001819	synonymous_variant	23136	exon14			AGTGGCAGTGGTC	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2112T>C	18.37:g.5410574A>G		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	138	6	NM_012307	0	0	0	0	0	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																			G|0.754;N|0.001		0.537	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5410574	A	G	5410574	2	3	6	1	0	0	0	0	0	0	0	1	5170	175	7	4		4	EPB41L3	18	5410574	Silent	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10		5410574	72666674	118	1245											
ZNF521	25925	hgsc.bcm.edu;broad.mit.edu	37	chr18	22807146	22807146	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcacactgactgcacttctGagtgtccttcatcttccagt	6	14	4	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr18:22807146G>C	ENST00000361524.3	-	4	884	c.736C>G	c.(736-738)Cag>Gag	p.Q246E	ZNF521_ENST00000584787.1_Missense_Mutation_p.Q26E|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q246E|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	246					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)					CTGCACTTCTGAGTGTCCTTC	0.537			T	PAX5	ALL																																p.Q246E		.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521-275	0			c.C736G						.						137	112	120					18																	22807146		2203	4300	6503	SO:0001583	missense	25925	exon4			ACTTCTGAGTGTC	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.736C>G	18.37:g.22807146G>C	ENSP00000354794:p.Gln246Glu	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	108	6	NM_015461	0	0	1	1	0	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261763	0.23051	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08102	3.13;3.16	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.057177	0.64402	D	0.000001	T	0.05868	0.0153	N	0.08118	0	0.30927	N	0.727374	P	0.36183	0.542	B	0.36766	0.232	T	0.07888	-1.0749	10	0.87932	D	0	-31.812	13.5147	0.61533	0.071:0.0:0.929:0.0	.	246	Q96K83	ZN521_HUMAN	E	246;280;246	ENSP00000354794:Q246E;ENSP00000382352:Q246E	ENSP00000354794:Q246E	Q	-	1	0	ZNF521	21061144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.818000	0.97014	0.655000	0.94253	CAG	.		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22807146	G	C	22807146	3	2	6	1	0	0	0	0	1	0	0	0	18013	1299	45	3	3219	3	ZNF521	18	22807146	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	17396572	22807146	55270102	119	1246											
TMPRSS9	360200	hgsc.bcm.edu	37	chr19	2425145	2425145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacgtggcgctgctggagCtggcggggccggtgcgtcgc	20	12	0	0	rs77360217	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:2425145C>T	ENST00000332578.3	+	15	2761	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	921	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGAGCTGGCGGGGCC	0.726													C|||	213	0.0425319	0.1528	0.0101	5008	,	,		5183	0		0.004	False		,,,				2504	0				p.L921L		.											.	TMPRSS9-91	0			c.C2761T						.	C		557,3817		28,501,1658	14	12	13		2761	1.9	1	19	dbSNP_131	13	7,8521		0,7,4257	no	coding-synonymous	TMPRSS9	NM_182973.1		28,508,5915	TT,TC,CC		0.0821,12.7343,4.3714		921/1060	2425145	564,12338	2187	4264	6451	SO:0001819	synonymous_variant	360200	exon15			CTGGAGCTGGCGG	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2761C>T	19.37:g.2425145C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	12	NM_182973	0	0	7	12	5	Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																			C|0.956;T|0.044		0.726	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2425145	C	T	2425145	2	4	6	1	0	0	0	0	0	0	0	1	16300	796	28	3		3	TMPRSS9	19	2425145	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10		2425145	56703838	120	1247											
C19orf28	126321	hgsc.bcm.edu	37	chr19	3547955	3547955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctccgcatgcggccggCgcctctcccgggtgcccagg	14	19	1	0	rs10414812	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:3547955C>T	ENST00000355415.2	-	4	897	c.728G>A	c.(727-729)cGc>cAc	p.R243H	MFSD12_ENST00000389395.3_Missense_Mutation_p.R243H|MFSD12_ENST00000398558.4_Missense_Mutation_p.R243H|MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	243			R -> H (in dbSNP:rs10414812).		transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ATGCGGCCGGCGCCTCTCCCG	0.697													C|||	390	0.0778754	0.2496	0.0159	5008	,	,		13194	0.001		0.007	False		,,,				2504	0.0419				p.R243H		.											.	.	0			c.G728A						.	C	HIS/ARG,HIS/ARG,HIS/ARG	696,3158		62,572,1293	11	14	13		728,728,728	-2.5	0	19	dbSNP_119	13	94,8038		1,92,3973	yes	missense,missense,missense	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	29,29,29	63,664,5266	TT,TC,CC		1.1559,18.0592,6.591	benign,benign,benign	243/474,243/539,243/481	3547955	790,11196	1927	4066	5993	SO:0001583	missense	126321	exon4			GGCCGGCGCCTCT	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.728G>A	19.37:g.3547955C>T	ENSP00000347583:p.Arg243His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001042680	0	0	18	30	12	A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	CCDS42465.1	111	0.050824175824175824	101	0.20528455284552846	5	0.013812154696132596	0	0.0	5	0.006596306068601583	C	8.455	0.854057	0.17106	0.180592	0.011559	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.81078	-1.45;-1.45;-1.45	4.62	-2.51	0.06365	Major facilitator superfamily domain, general substrate transporter (1);	0.826990	0.10770	N	0.636139	T	0.00109	0.0003	M	0.68952	2.095	0.80722	P	0.0	B;B;B	0.20887	0.002;0.012;0.049	B;B;B	0.14023	0.009;0.004;0.01	T	0.06734	-1.0810	9	0.14656	T	0.56	-17.7259	2.4452	0.04504	0.1012:0.3645:0.2777:0.2565	rs10414812;rs10414812	243;234;243	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	H	243	ENSP00000374046:R243H;ENSP00000381566:R243H;ENSP00000347583:R243H	ENSP00000347583:R243H	R	-	2	0	C19orf28	3498955	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.127000	0.03251	0.047000	0.15862	0.555000	0.69702	CGC	C|0.947;T|0.053		0.697	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		T	3547955	C	T	3547955	3	4	6	1	0	0	0	0	1	0	0	0	1924	768	27	1	949	1	C19orf28	19	3547955	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	1122810	3547955	55581028	121	1248											
PNPLA6	10908	hgsc.bcm.edu	37	chr19	7615942	7615942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgcgcgacacggagctGgccaagcttcccgagggcac	16	14	0	0	rs113335442	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:7615942G>A	ENST00000221249.6	+	20	2447	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PNPLA6_ENST00000600737.1_Silent_p.L711L|PNPLA6_ENST00000545201.2_Silent_p.L646L|PNPLA6_ENST00000450331.3_Silent_p.L672L|PNPLA6_ENST00000414982.3_Silent_p.L720L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	711					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACGGAGCTGGCCAAGCTTC	0.721													G|||	46	0.0091853	0.0333	0.0029	5008	,	,		9733	0		0	False		,,,				2504	0				p.L720L		.											.	PNPLA6-47	0			c.G2160A						.	G	,,,,	102,3956		0,102,1927	5	6	6		2160,1938,2016,2133,2016	2.4	1	19	dbSNP_132	6	0,7862		0,0,3931	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	0,102,5858	AA,AG,GG		0.0,2.5136,0.8557	,,,,	720/1376,646/1301,672/1328,711/1366,672/1328	7615942	102,11818	2029	3931	5960	SO:0001819	synonymous_variant	10908	exon19			GGAGCTGGCCAAG	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.2016G>A	19.37:g.7615942G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	67	32	NM_001166111	0	0	15	27	12	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																			G|0.992;A|0.008		0.721	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7615942	G	A	7615942	2	1	6	1	0	0	0	0	0	0	0	1	12208	1335	47	3		3	PNPLA6	19	7615942	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	4067987	7615942	51513041	122	1249											
CD320	51293	hgsc.bcm.edu	37	chr19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgccacgctccaaccTgcgccatccaaccgccgctc	7	21	0	0	rs2232775	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000537716.2_Missense_Mutation_p.Q8R|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6	7	7		23,23	1.9	0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_001165895	0	1	21	39	17	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		C	8373152	T	C	8373152	3	2	6	1	0	0	0	0	1	0	0	0	3011	1580	55	4	845	4	CD320	19	8373152	Missense_Mutation	SNP	T	TCGA-OR-A5J6-01A-31D-A29I-10	757210	8373152	50755831	123	1250											
GADD45GIP1	90480	hgsc.bcm.edu	37	chr19	13067746	13067746	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatggtcgccaggctcGggtaccattcgcgttcttcg	12	14	1	0	rs137887501	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:13067746G>C	ENST00000316939.1	-	1	304	c.281C>G	c.(280-282)cCg>cGg	p.P94R	AC092069.1_ENST00000410560.3_RNA	NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	94					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CGCCAGGCTCGGGTACCATTC	0.701													G|||	21	0.00419329	0.0144	0.0029	5008	,	,		14815	0		0	False		,,,				2504	0				p.P94R		.											.	GADD45GIP1-92	0			c.C281G						.	G	ARG/PRO	38,4366		0,38,2164	21	23	22		281	3.7	0.5	19	dbSNP_134	22	1,8585		0,1,4292	no	missense	GADD45GIP1	NM_052850.2	103	0,39,6456	CC,CG,GG		0.0116,0.8629,0.3002	probably-damaging	94/223	13067746	39,12951	2202	4293	6495	SO:0001583	missense	90480	exon1			AGGCTCGGGTACC	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.281C>G	19.37:g.13067746G>C	ENSP00000323065:p.Pro94Arg	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	37	19	NM_052850	0	0	77	189	112	Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	CCDS12290.1	11	0.005036630036630037	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	0	0.0	G	15.22	2.770027	0.49680	0.008629	1.16E-4	ENSG00000179271	ENST00000316939	.	.	.	4.7	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.67700	2.07	0.52501	D	0.999952	D	0.89917	1.0	D	0.79784	0.993	T	0.72023	-0.4415	9	0.72032	D	0.01	-29.1657	11.7367	0.51769	0.0889:0.0:0.9111:0.0	.	94	Q8TAE8	G45IP_HUMAN	R	94	.	ENSP00000323065:P94R	P	-	2	0	GADD45GIP1	12928746	1.000000	0.71417	0.466000	0.27168	0.005000	0.04900	8.073000	0.89498	0.981000	0.38548	-0.373000	0.07131	CCG	G|0.995;C|0.005		0.701	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		C	13067746	G	C	13067746	3	2	6	1	0	0	0	0	1	0	0	0	6208	1116	39	2	395	2	GADD45GIP1	19	13067746	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	4694594	13067746	46061237	124	1251											
NACC1	112939	hgsc.bcm.edu	37	chr19	13246606	13246606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaaggaggctgggggCggcggcaatggcagccgcaa	20	10	0	1	rs113254389	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:13246606C>T	ENST00000292431.4	+	2	711	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	195	Poly-Gly.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AGGCTGGGGGCGGCGGCAATG	0.697													C|||	121	0.0241613	0.0893	0.0029	5008	,	,		14327	0		0.001	False		,,,				2504	0				p.G195G		.											.	NACC1-90	0			c.C585T						.	C		218,3760		7,204,1778	6	6	6		585	-6.6	0	19	dbSNP_132	6	3,7933		0,3,3965	no	coding-synonymous	NACC1	NM_052876.2		7,207,5743	TT,TC,CC		0.0378,5.4801,1.855		195/528	13246606	221,11693	1989	3968	5957	SO:0001819	synonymous_variant	112939	exon2			TGGGGGCGGCGGC	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.585C>T	19.37:g.13246606C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	56	23	NM_052876	0	0	10	15	5		Silent	SNP	ENST00000292431.4	37	CCDS12294.1																																																																																			C|0.978;T|0.022		0.697	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		T	13246606	C	T	13246606	2	4	6	1	0	0	0	0	0	0	0	1	10173	755	27	1		1	NACC1	19	13246606	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	178860	13246606	45882377	125	1252											
IER2	9592	hgsc.bcm.edu	37	chr19	13264242	13264242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaagccgagtccacggCcgagacagcgacccccgacg	13	17	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:13264242C>T	ENST00000588173.1	+	1	1454	c.242C>T	c.(241-243)gCc>gTc	p.A81V	IER2_ENST00000587885.1_Missense_Mutation_p.A81V|CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.A81V			Q9BTL4	IER2_HUMAN	immediate early response 2	81						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GAGTCCACGGCCGAGACAGCG	0.731											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A81V		.											.	IER2-537	0			c.C242T						.						6	6	6					19																	13264242		2059	4096	6155	SO:0001583	missense	9592	exon2			CCACGGCCGAGAC	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.242C>T	19.37:g.13264242C>T	ENSP00000465617:p.Ala81Val	Somatic	2	0	686	WXS	Illumina GAIIx	Phase_I	66	41	NM_004907	0	0	21	44	23	Q03827|Q2TAZ2	Missense_Mutation	SNP	ENST00000588173.1	37	CCDS12295.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.824935	0.16678	.	.	ENSG00000160888	ENST00000292433	T	0.08896	3.04	4.38	2.23	0.28157	.	1.236640	0.05928	N	0.634710	T	0.06645	0.0170	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.45833	-0.9234	10	0.12103	T	0.63	-1.0528	7.9006	0.29731	0.0:0.7888:0.0:0.2112	.	81	Q9BTL4	IER2_HUMAN	V	81	ENSP00000292433:A81V	ENSP00000292433:A81V	A	+	2	0	IER2	13125242	0.003000	0.15002	0.001000	0.08648	0.024000	0.10985	1.418000	0.34782	0.299000	0.22661	-0.448000	0.05591	GCC	.		0.731	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1	NM_004907		T	13264242	C	T	13264242	3	4	6	1	0	0	0	0	1	0	0	0	7532	739	26	3	244	3	IER2	19	13264242	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	17636	13264242	45864741	126	1253											
PODNL1	79883	hgsc.bcm.edu	37	chr19	14043843	14043843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcagggcacgcaaccggCggaaggcccggtggtgcaca	17	13	0	0	rs80103045	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:14043843C>T	ENST00000339560.5	-	8	1487	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	PODNL1_ENST00000538371.2_Missense_Mutation_p.R403H|PODNL1_ENST00000538517.2_Missense_Mutation_p.R314H|PODNL1_ENST00000254320.3_Missense_Mutation_p.R323H	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	405	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			ACGCAACCGGCGGAAGGCCCG	0.711													C|||	153	0.0305511	0.1074	0.0029	5008	,	,		15309	0		0.001	False		,,,				2504	0.0082				p.R405H		.											.	PODNL1-90	0			c.G1214A						.	C	HIS/ARG,HIS/ARG,HIS/ARG	318,3856		6,306,1775	6	7	7		1208,941,1214	3.8	0.9	19	dbSNP_131	7	17,8171		0,17,4077	yes	missense,missense,missense	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	29,29,29	6,323,5852	TT,TC,CC		0.2076,7.6186,2.7099	probably-damaging,probably-damaging,probably-damaging	403/511,314/422,405/513	14043843	335,12027	2087	4094	6181	SO:0001583	missense	79883	exon8			AACCGGCGGAAGG	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1214G>A	19.37:g.14043843C>T	ENSP00000345175:p.Arg405His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_024825	0	0	0	0	0	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	34	0.015567765567765568	32	0.06504065040650407	2	0.0055248618784530384	0	0.0	0	0.0	C	13.68	2.309090	0.40895	0.076186	0.002076	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.79	3.76	0.43208	.	0.451987	0.18547	N	0.138005	T	0.02267	0.0070	N	0.16066	0.365	0.26971	N	0.965586	B;B;B;B	0.29037	0.046;0.231;0.113;0.224	B;B;B;B	0.33690	0.046;0.115;0.052;0.168	T	0.04400	-1.0954	10	0.51188	T	0.08	.	10.0503	0.42212	0.0:0.9024:0.0:0.0976	.	403;323;314;405	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	H	403;314;405;255;323	ENSP00000442553:R403H;ENSP00000440080:R314H;ENSP00000345175:R405H;ENSP00000254320:R323H	ENSP00000254320:R323H	R	-	2	0	PODNL1	13904843	0.997000	0.39634	0.903000	0.35520	0.313000	0.28021	2.510000	0.45468	1.015000	0.39444	0.453000	0.30009	CGC	C|0.980;T|0.020		0.711	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		T	14043843	C	T	14043843	3	4	6	1	0	0	0	0	1	0	0	0	12218	768	27	1	328	1	PODNL1	19	14043843	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	779601	14043843	45085140	127	1254											
PKN1	5585	hgsc.bcm.edu	37	chr19	14552020	14552020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagacctggcggccccCggggtacagcagcagctgga	18	13	0	1	rs369378980	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:14552020C>T	ENST00000242783.6	+	2	252	c.87C>T	c.(85-87)ccC>ccT	p.P29P	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Silent_p.P35P	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	29					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGGCGGCCCCCGGGGTACAGC	0.687													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		15693	0		0	False		,,,				2504	0				p.P35P	NSCLC(185;2539 2965 10733 52867)	.											.	PKN1-1481	0			c.C105T						.	C	,	16,3562		0,16,1773	7	9	8		87,105	-8.3	0.6	19		8	0,7796		0,0,3898	no	coding-synonymous,coding-synonymous	PKN1	NM_002741.3,NM_213560.1	,	0,16,5671	TT,TC,CC		0.0,0.4472,0.1407	,	29/943,35/949	14552020	16,11358	1789	3898	5687	SO:0001819	synonymous_variant	5585	exon2			GGCCCCCGGGGTA	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.87C>T	19.37:g.14552020C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	29	21	NM_213560	0	0	13	23	10	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																			.		0.687	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		T	14552020	C	T	14552020	2	4	6	1	0	0	0	0	0	0	0	1	12018	639	23	1		1	PKN1	19	14552020	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	508177	14552020	44576963	128	1255											
ZNF85	7639	broad.mit.edu	37	chr19	21117821	21117821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggcctggagtatgaAgagacatgagatcatggtgg	16	4	1	4			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:21117821A>C	ENST00000328178.8	+	3	310	c.197A>C	c.(196-198)aAg>aCg	p.K66T	ZNF85_ENST00000601023.1_5'Flank|ZNF85_ENST00000345030.6_Intron|ZNF85_ENST00000597314.1_Missense_Mutation_p.E60D|ZNF85_ENST00000596476.1_Missense_Mutation_p.K34T|ZNF85_ENST00000300540.3_Missense_Mutation_p.K66T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGGAGTATGAAGAGACATGAG	0.413																																					p.K66T		.											.	ZNF85-514	0			c.A197C						.						60	58	59					19																	21117821		2203	4300	6503	SO:0001583	missense	7639	exon3			GTATGAAGAGACA	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.197A>C	19.37:g.21117821A>C	ENSP00000329793:p.Lys66Thr	Somatic	266	0		WXS	Illumina GAIIx	Phase_I	387	8	NM_003429	0	0	1	1	0	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.557072	0.27827	.	.	ENSG00000105750	ENST00000328178;ENST00000300540	T;T	0.05319	3.46;5.7	1.05	1.05	0.20165	Krueppel-associated box (1);	.	.	.	.	T	0.06781	0.0173	L	0.58583	1.82	0.09310	N	1	B	0.26744	0.158	B	0.17433	0.018	T	0.32719	-0.9896	9	0.87932	D	0	.	4.1668	0.10310	1.0:0.0:0.0:0.0	.	66	Q03923	ZNF85_HUMAN	T	66	ENSP00000329793:K66T;ENSP00000300540:K66T	ENSP00000300540:K66T	K	+	2	0	ZNF85	20909661	0.288000	0.24324	0.013000	0.15412	0.013000	0.08279	1.157000	0.31724	0.389000	0.25086	0.379000	0.24179	AAG	.		0.413	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		C	21117821	A	C	21117821	3	2	6	1	0	0	0	0	1	0	0	0	18241	72	3	5	207	5	ZNF85	19	21117821	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	6565801	21117821	38011162	129	1256											
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42841342	42841342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagctgagcttgccccGccaggaacccctgagggtga	14	13	1	3	rs374205876		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:42841342G>A	ENST00000251268.6	+	8	1497	c.1497G>A	c.(1495-1497)ccG>ccA	p.P499P	MEGF8_ENST00000334370.4_Silent_p.P499P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	499					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCTTGCCCCGCCAGGAACCC	0.572																																					p.P499P		.											.	MEGF8-23	0			c.G1497A						.	G		0,4406		0,0,2203	69	67	68		1497	-9.1	0.4	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEGF8	NM_001410.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		499/2779	42841342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1954	exon8			TGCCCCGCCAGGA	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1497G>A	19.37:g.42841342G>A		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	122	27	NM_001271938	0	0	2	2	0	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																				.		0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42841342	G	A	42841342	2	1	6	1	0	0	0	0	0	0	0	1	9501	1074	38	1		1	MEGF8	19	42841342	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	21723521	42841342	16287641	130	1257											
TPRX1	284355	ucsc.edu	37	chr19	48305650	48305650	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgagattgggcctgggatCgggcctgggatcgggactga	18	9	0	2	rs112397458		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:48305650C>T	ENST00000322175.3	-	2	773	c.618G>A	c.(616-618)ccG>ccA	p.P206P	TPRX1_ENST00000535759.1_Silent_p.P303P|TPRX1_ENST00000543508.1_Silent_p.P196P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	206	Gly-rich.			P -> L (in Ref. 1; BAC05130). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcctgggatcgggcctggga	0.677																																					p.P206P	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.G618A						.	T		31,3587		0,31,1778	12	9	10		618	-0.8	0	19	dbSNP_132	10	264,6594		0,264,3165	no	coding-synonymous	TPRX1	NM_198479.2		0,295,4943	TT,TC,CC		3.8495,0.8568,2.816		206/412	48305650	295,10181	1809	3429	5238	SO:0001819	synonymous_variant	284355	exon2			TGGGATCGGGCCT		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.618G>A	19.37:g.48305650C>T		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	60	8	NM_198479	0	0	0	0	0	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			C|0.912;T|0.088		0.677	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		T	48305650	C	T	48305650	2	4	6	1	0	0	0	0	0	0	0	1	16470	871	31	1		1	TPRX1	19	48305650	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	5464308	48305650	10823333	131	1258											
SIGLEC5	8778	bcgsc.ca	37	chr19	52115645	52115645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagatgcttgatctccggGgctgtctggccagggcttct	15	10	3	2	rs3829655	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:52115645G>C	ENST00000534261.2	-	10	1894	c.1495C>G	c.(1495-1497)Ccc>Gcc	p.P499A	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P499A|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P499A|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P499A|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.P499A			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGATCTCCGGGGCTGTCTGGC	0.498													G|||	2180	0.435304	0.3275	0.4683	5008	,	,		19086	0.5794		0.4225	False		,,,				2504	0.4223				p.P499A		.											.	SIGLEC5-92	0			c.C1495G						.	G	ALA/PRO	1423,2983	460.7+/-352.7	244,935,1024	72	75	74		1495	-1.3	0	19	dbSNP_107	74	3753,4847	527.6+/-381.2	800,2153,1347	yes	missense	SIGLEC5	NM_003830.2	27	1044,3088,2371	CC,CG,GG		43.6395,32.2969,39.797	benign	499/552	52115645	5176,7830	2203	4300	6503	SO:0001583	missense	8778	exon9			CTCCGGGGCTGTC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1495C>G	19.37:g.52115645G>C	ENSP00000473238:p.Pro499Ala	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	44	4	NM_003830	0	0	0	0	0		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	970	0.4441391941391941	151	0.30691056910569103	166	0.4585635359116022	319	0.5576923076923077	334	0.44063324538258575	G	8.436	0.849683	0.17034	0.322969	0.436395	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.59364	0.27;0.27	3.52	-1.27	0.09347	.	.	.	.	.	T	0.00012	0.0000	M	0.64567	1.98	0.80722	P	0.0	P	0.52463	0.953	B	0.42462	0.388	T	0.40270	-0.9572	8	0.52906	T	0.07	.	1.8675	0.03201	0.1081:0.1749:0.3589:0.3581	rs3829655;rs17852717;rs3829655	499	O15389	SIGL5_HUMAN	A	499	ENSP00000222107:P499A;ENSP00000415200:P499A	ENSP00000222107:P499A	P	-	1	0	SIGLEC5	56807457	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	0.278000	0.18753	-0.109000	0.12044	-0.152000	0.13540	CCC	G|0.550;C|0.450		0.498	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		C	52115645	G	C	52115645	3	2	6	1	0	0	0	0	1	0	0	0	14356	1232	43	3	164	3	SIGLEC5	19	52115645	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	3809995	52115645	7013338	132	1259											
ZNF813	126017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53994970	53994970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccttAcaagtgtaatgaatgtggca	10	6	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:53994970A>G	ENST00000396403.4	+	4	1612	c.1484A>G	c.(1483-1485)tAc>tGc	p.Y495C	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAGAAACCTTACAAGTGTAAT	0.398																																					p.Y495C		.											.	ZNF813-67	0			c.A1484G						.						51	55	54					19																	53994970		2200	4295	6495	SO:0001583	missense	126017	exon4			AACCTTACAAGTG	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1484A>G	19.37:g.53994970A>G	ENSP00000379684:p.Tyr495Cys	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	230	42	NM_001004301	0	0	51	51	0		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	a	9.898	1.206052	0.22205	.	.	ENSG00000198346	ENST00000396403	T	0.25414	1.8	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	M	0.83692	2.655	0.25533	N	0.987251	P	0.43314	0.803	B	0.39904	0.313	T	0.26360	-1.0105	9	0.87932	D	0	.	4.1926	0.10428	0.6957:0.0:0.0:0.3043	.	495	Q6ZN06	ZN813_HUMAN	C	495	ENSP00000379684:Y495C	ENSP00000379684:Y495C	Y	+	2	0	ZNF813	58686782	0.000000	0.05858	0.129000	0.21949	0.128000	0.20619	-1.834000	0.01693	0.168000	0.19655	0.166000	0.16787	TAC	.		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		G	53994970	A	G	53994970	3	3	6	1	0	0	0	0	1	0	0	0	18223	391	14	4	1494	4	ZNF813	19	53994970	Missense_Mutation	SNP	A	TCGA-OR-A5J6-01A-31D-A29I-10	1879325	53994970	5134013	133	1260											
PTPRH	5794	broad.mit.edu	37	chr19	55716805	55716805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacggtgatgttagtgtGtgctgtgcttcgagtccctg	13	9	0	1	rs200319382		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr19:55716805G>A	ENST00000376350.3	-	4	530	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	170	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTTAGTGTGTGCTGTGCTT	0.567													t|||	1	0.000199681	0	0	5008	,	,		19765	0.001		0	False		,,,				2504	0				p.H170Y		.											.	PTPRH-138	0			c.C508T						.						162	144	150					19																	55716805		2203	4299	6502	SO:0001583	missense	5794	exon4			TAGTGTGTGCTGT		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.508C>T	19.37:g.55716805G>A	ENSP00000365528:p.His170Tyr	Somatic	283	2		WXS	Illumina GAIIx	Phase_I	364	11	NM_002842	0	0	1	1	0	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.635065	0.47049	.	.	ENSG00000080031	ENST00000376350	T	0.57436	0.4	3.93	-1.55	0.08558	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.173960	0.01664	N	0.025272	T	0.37046	0.0989	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.35607	0.206	T	0.21759	-1.0236	10	0.51188	T	0.08	.	4.2695	0.10780	0.0:0.3384:0.3199:0.3416	.	170	Q9HD43	PTPRH_HUMAN	Y	170	ENSP00000365528:H170Y	ENSP00000365528:H170Y	H	-	1	0	PTPRH	60408617	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.994000	0.00656	-0.644000	0.05465	-2.191000	0.00312	CAC	.		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55716805	G	A	55716805	3	1	6	1	0	0	0	0	1	0	0	0	12848	1377	48	3	2907	3	PTPRH	19	55716805	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	1721835	55716805	3412178	134	1261											
RALY	22913	hgsc.bcm.edu	37	chr20	32664865	32664866	+	In_Frame_Ins	INS	-	-	AGC													agggtgatggaggtggcgccINSggcggcggcggcggtggtgg					rs57852506|rs11538302	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr20:32664865_32664866insAGC	ENST00000246194.3	+	8	1192_1193	c.690_691insAGC	c.(691-693)ggc>AGCggc	p.230_231insS	RALY_ENST00000375114.3_In_Frame_Ins_p.214_215insS	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	230	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.			A -> AS (in Ref. 2; AAC28898). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GAggtggcgccggcggcggcgg	0.663																																					p.A230delinsAS		.											.	RALY-91	0			c.690_691insAGC						.																																			SO:0001652	inframe_insertion	22913	exon8			TGGCGCCGGCGGC	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	Exception_encountered	20.37:g.32664865_32664866insAGC	ENSP00000246194:p.Ala230_Gly231insSer	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	31	0	NM_016732	0	0	0	0	0	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	In_Frame_Ins	INS	ENST00000246194.3	37	CCDS13230.1																																																																																			-|0.167;AGC|0.833		0.663	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			AGC	32664866	-	AGC	32664865	7	5	6	1	0	1	1	0	0	0	0	0	13064	639	23	0	712	0	RALY	20	32664865	In_Frame_Ins	INS	-	TCGA-OR-A5J6-01A-31D-A29I-10		32664865	30360655	135	1262											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G													gggtctcgggtgagccgcagCaatcgggggacggcagcctc					rs13049028	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2	2	2		892	-0.8	0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042579	C	G	36042579	3	3	6	1	0	0	0	0	1	0	0	0	3537	711	25	3	894	3	CLIC6	21	36042579	Missense_Mutation	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10		36042579	12087316	136	1263	12	2									
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A													tcgggtgagccgcagcaatcGggggacggcagcctctcgcc					rs13049239	byFrequency	TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	6	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	5	36042584	12087311	137	1264	12	2									
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45971108	45971108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctagactgctggcagcaCgagggcgtgcaggagctggt	17	10	0	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chr21:45971108C>T	ENST00000391621.1	-	1	280	c.234G>A	c.(232-234)tcG>tcA	p.S78S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	78	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCTGGCAGCACGAGGGCGTGC	0.687																																					p.S78S		.											.	KRTAP10-2-135	0			c.G234A						.						52	56	55					21																	45971108		2202	4293	6495	SO:0001819	synonymous_variant	386679	exon1			GCAGCACGAGGGC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.234G>A	21.37:g.45971108C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	110	18	NM_198693	0	0	0	0	0	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			.		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			T	45971108	C	T	45971108	2	4	6	1	0	0	0	0	0	0	0	1	8536	523	19	1		1	KRTAP10-2	21	45971108	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	9928524	45971108	2158787	138	1265											
CDKL5	6792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	18631388	18631388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaaaagacaaccagcattcGatccatggtgagcattttgg	9	9	0	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chrX:18631388G>T	ENST00000379989.3	+	16	2554	c.2269G>T	c.(2269-2271)Gat>Tat	p.D757Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.D757Y|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	757				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	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)					ACCAGCATTCGATCCATGGTG	0.348																																					p.D757Y		.											.	CDKL5-838	0			c.G2269T						.						118	113	115					X																	18631388		2203	4300	6503	SO:0001583	missense	6792	exon15			GCATTCGATCCAT	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.2269G>T	X.37:g.18631388G>T	ENSP00000369325:p.Asp757Tyr	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	253	43	NM_003159	0	0	0	0	0	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233478	0.79688	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	D;D	0.81499	-1.5;-1.5	5.03	5.03	0.67393	.	0.043313	0.85682	D	0.000000	D	0.84606	0.5509	L	0.34521	1.04	0.52501	D	0.999956	D	0.89917	1.0	D	0.67548	0.952	D	0.86889	0.2047	10	0.87932	D	0	-17.5163	17.7203	0.88349	0.0:0.0:1.0:0.0	.	757	O76039	CDKL5_HUMAN	Y	757	ENSP00000369332:D757Y;ENSP00000369325:D757Y	ENSP00000369325:D757Y	D	+	1	0	CDKL5	18541309	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	8.652000	0.91083	2.202000	0.70862	0.499000	0.49734	GAT	.		0.348	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18631388	G	T	18631388	3	4	6	1	0	0	0	0	1	0	0	0	3164	1058	37	2	2323	2	CDKL5	23	18631388	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10		18631388	136639172	139	1266											
SH3KBP1	30011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	19587243	19587243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcattgctgcggtccgaGagatctttgtccaggatgcc	12	10	2	1			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chrX:19587243G>A	ENST00000397821.3	-	13	1652	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	SH3KBP1_ENST00000379716.1_Silent_p.L216L|SH3KBP1_ENST00000541422.1_Silent_p.L193L|SH3KBP1_ENST00000379698.4_Silent_p.L417L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	454					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						TGCGGTCCGAGAGATCTTTGT	0.473																																					p.L454L		.											.	SH3KBP1-130	0			c.C1362T						.						162	136	145					X																	19587243		2203	4300	6503	SO:0001819	synonymous_variant	30011	exon13			GTCCGAGAGATCT	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.1362C>T	X.37:g.19587243G>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	142	33	NM_031892	0	0	3	7	4	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																			.		0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		A	19587243	G	A	19587243	2	1	6	1	0	0	0	0	0	0	0	1	14300	929	33	3		3	SH3KBP1	23	19587243	Silent	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	955855	19587243	135683317	140	1267											
PPP1R3F	89801	hgsc.bcm.edu	37	chrX	49126714	49126714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccgcccgcgccgggccgtCtggagcgcttggggcgcgtc	18	16	1	0	rs111938103		TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chrX:49126714C>T	ENST00000055335.6	+	1	398	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_Intron|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	128	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCCGGGCCGTCTGGAGCGCTT	0.761													c|||	321	0.0850331	0.2254	0.0231	3775	,	,		6517	0		0	False		,,,				2504	0.0072				p.L128L		.											.	PPP1R3F-229	0			c.C382T						.		,	536,2408		20,412,84,850,296	3	3	3		,382	3.3	1	X	dbSNP_132	3	4,5429		0,3,1,2043,1340	no	intron,coding-synonymous	PPP1R3F	NM_001184745.1,NM_033215.4	,	20,415,85,2893,1636	TT,TC,T,CC,C		0.0736,18.2065,6.4462	,	,128/800	49126714	540,7837	1662	3387	5049	SO:0001819	synonymous_variant	89801	exon1			GGCCGTCTGGAGC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.382C>T	X.37:g.49126714C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_033215	0	0	0	0	0	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																			C|0.941;T|0.059		0.761	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49126714	C	T	49126714	2	4	6	1	0	0	0	0	0	0	0	1	12417	912	32	3		3	PPP1R3F	23	49126714	Silent	SNP	C	TCGA-OR-A5J6-01A-31D-A29I-10	29539471	49126714	106143846	141	1268											
TRPC5	7224	broad.mit.edu;bcgsc.ca	37	chrX	111195291	111195291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctctccgctgggccGcctgtagctgagcagaagct	12	14	1	2			TCGA-OR-A5J6-01A-31D-A29I-10	TCGA-OR-A5J6-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	687986f9-fe70-495e-bcb2-569529c56ff2	6c4bf8c2-d374-473b-84f8-7545ce3e3aee	g.chrX:111195291G>A	ENST00000262839.2	-	2	1276	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	120					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						CCGCTGGGCCGCCTGTAGCTG	0.552																																					p.R120W		.											.	TRPC5-130	0			c.C358T						.						94	91	92					X																	111195291		2203	4300	6503	SO:0001583	missense	7224	exon2			TGGGCCGCCTGTA	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.358C>T	X.37:g.111195291G>A	ENSP00000262839:p.Arg120Trp	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	189	6	NM_012471	0	0	0	0	0	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024497	0.75390	.	.	ENSG00000072315	ENST00000262839	T	0.52983	0.64	5.6	2.27	0.28462	Ankyrin repeat-containing domain (2);	0.173201	0.49916	D	0.000123	T	0.51686	0.1689	N	0.25332	0.735	0.33461	D	0.584896	D;D	0.69078	0.994;0.997	P;D	0.64321	0.878;0.924	T	0.65475	-0.6159	10	0.87932	D	0	-0.126	13.6681	0.62407	0.0:0.0:0.2019:0.7981	.	121;120	Q59G51;Q9UL62	.;TRPC5_HUMAN	W	120	ENSP00000262839:R120W	ENSP00000262839:R120W	R	-	1	2	TRPC5	111081947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.078000	0.41567	0.423000	0.26033	0.513000	0.50165	CGG	.		0.552	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		A	111195291	G	A	111195291	3	1	6	1	0	0	0	0	1	0	0	0	16630	1086	38	1	2603	1	TRPC5	23	111195291	Missense_Mutation	SNP	G	TCGA-OR-A5J6-01A-31D-A29I-10	62068577	111195291	44075269	142	1269											
DHRS3	9249	bcgsc.ca	37	chr1	12640650	12640650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctgccggatctcctcCgtcgtctccttcaggcattt	7	17	4	0	rs11540058	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:12640650C>T	ENST00000376223.2	-	2	623	c.240G>A	c.(238-240)acG>acA	p.T80T	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	80					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGATCTCCTCCGTCGTCTCCT	0.537													C|||	399	0.0796725	0.0446	0.0764	5008	,	,		17584	0.002		0.1918	False		,,,				2504	0.0941				p.T80T		.											.	DHRS3-91	0			c.G240A						.	C		294,4112	161.1+/-193.3	10,274,1919	74	71	72		240	-4.2	0.4	1	dbSNP_120	72	1781,6819	321.8+/-315.3	194,1393,2713	no	coding-synonymous	DHRS3	NM_004753.4		204,1667,4632	TT,TC,CC		20.7093,6.6727,15.9542		80/303	12640650	2075,10931	2203	4300	6503	SO:0001819	synonymous_variant	9249	exon2			CTCCTCCGTCGTC	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.240G>A	1.37:g.12640650C>T		Somatic	166	2		WXS	Illumina GAIIx	Phase_I	142	5	NM_004753	0	0	20	20	0	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Silent	SNP	ENST00000376223.2	37	CCDS146.1																																																																																			C|0.868;T|0.132		0.537	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		T	12640650	C	T	12640650	2	4	7	1	0	0	0	0	0	0	0	1	4505	639	23	1		1	DHRS3	1	12640650	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		12640650	236609971	1	1270											
CTBS	1486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	85036384	85036384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatttccaagttttctgtCcaacatcaaacacaaagacc	4	11	2	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:85036384C>T	ENST00000370630.5	-	2	245	c.197G>A	c.(196-198)gGa>gAa	p.G66E	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	66					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		AGTTTTCTGTCCAACATCAAA	0.378																																					p.G66E		.											.	CTBS-90	0			c.G197A						.						84	85	85					1																	85036384		2203	4300	6503	SO:0001583	missense	1486	exon2			TTCTGTCCAACAT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.197G>A	1.37:g.85036384C>T	ENSP00000359664:p.Gly66Glu	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	76	11	NM_004388	0	0	11	13	2	Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	CCDS698.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161361	0.57368	.	.	ENSG00000117151	ENST00000370630	T	0.28069	1.63	5.59	5.59	0.84812	Chitinase II (1);Glycoside hydrolase, superfamily (1);	0.098474	0.64402	D	0.000001	T	0.14527	0.0351	M	0.67397	2.05	0.47245	D	0.999363	P	0.42735	0.788	B	0.37692	0.256	T	0.04191	-1.0970	10	0.06365	T	0.9	-15.1711	12.8695	0.57957	0.0:0.9254:0.0:0.0746	.	66	Q01459	DIAC_HUMAN	E	66	ENSP00000359664:G66E	ENSP00000359664:G66E	G	-	2	0	CTBS	84808972	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	5.905000	0.69893	2.614000	0.88457	0.561000	0.74099	GGA	.		0.378	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		T	85036384	C	T	85036384	3	4	7	1	0	0	0	0	1	0	0	0	4008	855	30	3	984	3	CTBS	1	85036384	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	72395734	85036384	164214237	2	1271											
PDE4DIP	9659	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	144930794	144930794	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctgctccctcggggGctctggatgggcttataatc	14	11	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:144930794G>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S305R|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S305R|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_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)			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)		TCCCTCGGGGGCTCTGGATGG	0.502			T	PDGFRB	MPD																																p.S305R		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C915G						.																																			SO:0001627	intron_variant	9659	exon1			TCGGGGGCTCTGG	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.637-6973C>G	1.37:g.144930794G>C		Somatic	229	1		WXS	Illumina GAIIx	Phase_I	256	48	NM_001002811	0	0	4	4	0	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	16.09	3.023619	0.54683	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.13089	2.62;2.62	5.49	-0.336	0.12658	.	.	.	.	.	T	0.14184	0.0343	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.59703	0.862	T	0.05835	-1.0861	9	0.49607	T	0.09	.	9.1586	0.37007	0.4659:0.0:0.5341:0.0	.	305	Q5VU43-2	.	R	305	ENSP00000316434:S305R;ENSP00000433392:S305R	ENSP00000316434:S305R	S	-	3	2	PDE4DIP	143642151	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	0.181000	0.16880	-0.077000	0.12752	0.586000	0.80456	AGC	.		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144930794	G	C	144930794	1	2	7	0	1	0	0	0	0	0	0	0	11682	1194	42	3		3	PDE4DIP	1	144930794	Intron	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	59894410	144930794	104319827	3	1272											
ATF6	22926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161761234	161761234	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttctagttctcagatgtctCccctttccttatatggtgaa	6	11	3	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:161761234C>G	ENST00000367942.3	+	5	458	c.391C>G	c.(391-393)Ccc>Gcc	p.P131A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	131	Transcription activation.				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)	TCAGATGTCTCCCCTTTCCTT	0.388																																					p.P131A		.											.	ATF6-93	0			c.C391G						.						151	149	150					1																	161761234		2203	4300	6503	SO:0001583	missense	22926	exon5			ATGTCTCCCCTTT	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.391C>G	1.37:g.161761234C>G	ENSP00000356919:p.Pro131Ala	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	59	29	NM_007348	0	0	4	16	12	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893367	0.72524	.	.	ENSG00000118217	ENST00000367942	T	0.57436	0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.59436	1.845	0.45718	D	0.998629	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.61667	-0.7016	9	0.46703	T	0.11	-8.4841	17.7923	0.88558	0.0:1.0:0.0:0.0	.	131;132	P18850;Q59H30	ATF6A_HUMAN;.	A	131	ENSP00000356919:P131A	ENSP00000356919:P131A	P	+	1	0	ATF6	160027858	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	4.783000	0.62403	2.793000	0.96121	0.655000	0.94253	CCC	.		0.388	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		G	161761234	C	G	161761234	3	3	7	1	0	0	0	0	1	0	0	0	1085	855	30	3	409	3	ATF6	1	161761234	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	16830440	161761234	87489387	4	1273											
JMJD4	65094	hgsc.bcm.edu	37	chr1	227923081	227923081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgccgcgtttctgccccGccagcgcctggggctccggg	17	17	1	0	rs7419238		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:227923081G>A	ENST00000366758.3	-	1	31	c.32C>T	c.(31-33)gCg>gTg	p.A11V	JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A11V	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	11			A -> V (in dbSNP:rs7419238). {ECO:0000269|PubMed:14702039}.							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)				TTTCTGCCCCGCCAGCGCCTG	0.741													A|||	5008	1	1	1	5008	,	,		11222	1		1	False		,,,				2504	1				p.A11V		.											.	JMJD4-226	0			c.C32T						.	A	VAL/ALA,VAL/ALA,	4035,1		2017,1,0	6	7	7		32,32,	2	0	1	dbSNP_116	7	8000,0		4000,0,0	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	64,64,	6017,1,0	AA,AG,GG		0.0,0.0248,0.0083	benign,benign,	11/448,11/464,	227923081	12035,1	2018	4000	6018	SO:0001583	missense	65094	exon1			TGCCCCGCCAGCG	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.32C>T	1.37:g.227923081G>A	ENSP00000355720:p.Ala11Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_023007	0	0	0	1	1	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	361|361	0.9972375690607734|0.9972375690607734	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	A|A	2.779|2.779	-0.253926|-0.253926	0.05829|0.05829	0.999752|0.999752	1.0|1.0	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	3.58|3.58	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	8|4	0.02654|.	T|.	1|.	.|.	5.7765|5.7765	0.18281|0.18281	0.6536:0.0:0.3464:0.0|0.6536:0.0:0.3464:0.0	rs7419238;rs58641567;rs7419238|rs7419238;rs58641567;rs7419238	11;11|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|W	11|4	ENSP00000355720:A11V|.	ENSP00000355720:A11V|.	A|R	-|-	2|1	0|2	JMJD4|JMJD4	225989704|225989704	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.100000|-0.100000	0.10990|0.10990	-0.047000|-0.047000	0.13423|0.13423	-0.268000|-0.268000	0.10319|0.10319	GCG|CGG	G|0.002;A|0.998		0.741	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227923081	G	A	227923081	3	1	7	1	0	0	0	0	1	0	0	0	7978	1087	38	1	1383	1	JMJD4	1	227923081	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	66161847	227923081	21327540	5	1274											
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	234444906	234444906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgttttttaccaaggCagcaccctttggtgttcttt	10	8	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:234444906C>A	ENST00000366617.3	+	3	689	c.461C>A	c.(460-462)gCa>gAa	p.A154E	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A223E|MIR4671_ENST00000583284.1_RNA			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	154					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTACCAAGGCAGCACCCTTT	0.413																																					p.A223E		.											.	SLC35F3-92	0			c.C668A						.						123	115	118					1																	234444906		2203	4300	6503	SO:0001583	missense	148641	exon4			CCAAGGCAGCACC		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.461C>A	1.37:g.234444906C>A	ENSP00000355576:p.Ala154Glu	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	110	24	NM_173508	0	0	0	0	0	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.143339	0.77888	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.70869	-0.52;-0.52	5.58	4.66	0.58398	.	0.208535	0.49916	D	0.000127	T	0.72293	0.3442	L	0.43152	1.355	0.42614	D	0.993326	P;D	0.53151	0.891;0.958	P;P	0.53649	0.575;0.731	T	0.73075	-0.4097	10	0.46703	T	0.11	-12.8735	13.8584	0.63545	0.0:0.9268:0.0:0.0732	.	154;223	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	E	223;154	ENSP00000355577:A223E;ENSP00000355576:A154E	ENSP00000355576:A154E	A	+	2	0	SLC35F3	232511529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.593000	0.61034	2.646000	0.89796	0.655000	0.94253	GCA	.		0.413	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234444906	C	A	234444906	3	1	7	1	0	0	0	0	1	0	0	0	14635	710	25	3	682	3	SLC35F3	1	234444906	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	6521825	234444906	14805715	6	1275											
HADHA	3030	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	26418025	26418026	+	In_Frame_Ins	INS	-	-	TGGAAA													agctgaagcactggtgtcttINStggaagttttctcggtcgtg							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:26418025_26418026insTGGAAA	ENST00000380649.3	-	15	1684_1685	c.1555_1556insTTTCCA	c.(1555-1557)aaa>aTTTCCAaa	p.518_519insIS		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	518					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)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|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)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGTGTCTTTGGAAGTTTTC	0.495																																					p.K519delinsISK		.											.	HADHA-91	0			c.1556_1557insTTTCCA						.																																			SO:0001652	inframe_insertion	3030	exon15			GTGTCTTTGGAAG	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1555_1556insTTTCCA	2.37:g.26418025_26418026insTGGAAA	ENSP00000370023:p.Ser518_Lys519insIleSer	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	151	23	NM_000182	0	0	0	0	0	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	In_Frame_Ins	INS	ENST00000380649.3	37	CCDS1721.1																																																																																			.		0.495	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		TGGAAA	26418026	-	TGGAAA	26418025	7	5	7	1	0	1	1	0	0	0	0	0	6970	1841	64	0	759	0	HADHA	2	26418025	In_Frame_Ins	INS	-	TCGA-OR-A5J7-01A-11D-A29I-10		26418025	216781348	7	1276											
LTBP1	4052	ucsc.edu	37	chr2	33500091	33500091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggccgctgtgaaaacaccGagggaagtttcttgtgcatt	13	8	1	1	rs572890688		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:33500091G>A	ENST00000404816.2	+	17	3156	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	LTBP1_ENST00000418533.2_Missense_Mutation_p.E609K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E556K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E556K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E609K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E610K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E936K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	935	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.E936K(1)		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)				TGAAAACACCGAGGGAAGTTT	0.428													G|||	1	0.000199681	0	0	5008	,	,		18689	0.001		0	False		,,,				2504	0				p.E935K		.											.	LTBP1-230	1	Substitution - Missense(1)	lung(1)	c.G2803A						.						110	105	106					2																	33500091		2203	4300	6503	SO:0001583	missense	4052	exon17			AACACCGAGGGAA		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.2803G>A	2.37:g.33500091G>A	ENSP00000386043:p.Glu935Lys	Somatic	113	2		WXS	Illumina GAIIx	Phase_I	83	12	NM_206943	0	0	14	17	3	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495841	0.44352	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91996	-2.25;-2.25;-2.95;-2.25;-2.95;-2.95;-2.95	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87160	0.6108	L	0.42686	1.345	0.80722	D	1	P;B;B;B;B;B	0.35481	0.504;0.31;0.286;0.304;0.304;0.448	B;B;B;B;B;B	0.31495	0.131;0.015;0.035;0.056;0.034;0.08	D	0.84281	0.0494	9	0.21540	T	0.41	.	13.2183	0.59873	0.0723:0.0:0.9277:0.0	.	935;609;556;609;610;936	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	K	935;936;610;609;556;556;609	ENSP00000386043:E935K;ENSP00000346467:E936K;ENSP00000374653:E610K;ENSP00000393057:E609K;ENSP00000384373:E556K;ENSP00000385359:E556K;ENSP00000384091:E609K	ENSP00000346467:E936K	E	+	1	0	LTBP1	33353595	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	4.253000	0.58791	2.745000	0.94114	0.650000	0.86243	GAG	.		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		A	33500091	G	A	33500091	3	1	7	1	0	0	0	0	1	0	0	0	9108	1059	37	1	2924	1	LTBP1	2	33500091	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	7082066	33500091	209699282	8	1277											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	7	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	76872101	110372192	132827181	9	1278											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179569656	179569656	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacaagttcctcaaattccTtttcgtccctctctgacctc	3	15	2	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:179569656T>A	ENST00000591111.1	-	102	28915	c.28691A>T	c.(28690-28692)aAg>aTg	p.K9564M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K8637M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K9881M|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13649					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)			CTCAAATTCCTTTTCGTCCCT	0.328																																					p.K9881M		.											.	TTN-636	0			c.A29642T						.						142	140	141					2																	179569656		1822	4083	5905	SO:0001583	missense	7273	exon104			AATTCCTTTTCGT	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.28691A>T	2.37:g.179569656T>A	ENSP00000465570:p.Lys9564Met	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	84	29	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.85	1.761295	0.31137	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.99	4.83	0.62350	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41419	0.1158	N	0.08118	0	0.80722	D	1	P	0.43169	0.8	B	0.37833	0.259	T	0.49283	-0.8956	9	0.87932	D	0	.	12.1489	0.54038	0.0:0.0668:0.0:0.9332	.	9564	Q8WZ42	TITIN_HUMAN	M	8637	ENSP00000343764:K8637M	ENSP00000343764:K8637M	K	-	2	0	TTN	179277901	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.432000	0.59922	1.087000	0.41251	0.533000	0.62120	AAG	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179569656	T	A	179569656	3	1	7	1	0	0	0	0	1	0	0	0	16784	1609	56	5	74923	5	TTN	2	179569656	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	69197464	179569656	63629717	10	1279											
ANKAR	150709	hgsc.bcm.edu;bcgsc.ca	37	chr2	190611186	190611186	+	Frame_Shift_Del	DEL	A	A	-													tacctcctgtaactaacttcAtgggactcttcaaagcaaca							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:190611186delA	ENST00000520309.1	+	23	4226	c.4138delA	c.(4138-4140)atgfs	p.M1380fs	ANKAR_ENST00000431575.2_Frame_Shift_Del_p.M1309fs|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.M1380fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1380						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AACTAACTTCATGGGACTCTT	0.318																																					p.M1380fs		.											.	ANKAR-72	0			c.4138delA						.						89	101	97					2																	190611186		2203	4299	6502	SO:0001589	frameshift_variant	150709	exon23			AACTTCATGGGAC	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4138delA	2.37:g.190611186delA	ENSP00000427882:p.Met1380fs	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	296	74	NM_144708	0	0	0	0	0	Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	CCDS33351.2																																																																																			.		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		-	190611186	A	-	190611186	7	5	7	1	0	1	0	1	0	0	0	0	623	217	8	0	4224	0	ANKAR	2	190611186	Frame_Shift_Del	DEL	A	TCGA-OR-A5J7-01A-11D-A29I-10	11041530	190611186	52588187	11	1280											
CCDC150	284992	hgsc.bcm.edu	37	chr2	197531518	197531519	+	Frame_Shift_Ins	INS	-	-	A													agaactactggcccaggaacINSaaaaaaaaaaagaagagttg					rs75642251|rs376590781		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:197531518_197531519insA	ENST00000389175.4	+	7	973_974	c.838_839insA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCCAGGAACAAAAAAAAAAA	0.371																																					p.Q280fs		.											.	.	0			c.838_839insA						.																																			SO:0001589	frameshift_variant	284992	exon7			CAGGAACAAAAAA		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.849dupA	2.37:g.197531529_197531529dupA	ENSP00000373827:p.Gln280fs	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	395	0	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Ins	INS	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.371	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		A	197531519	-	A	197531518	7	5	7	1	0	1	1	0	0	0	0	0	2792	479	17	0	864	0	CCDC150	2	197531518	Frame_Shift_Ins	INS	-	TCGA-OR-A5J7-01A-11D-A29I-10	6920332	197531518	45667855	12	1281											
SP140	11262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	231103027	231103027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctggtcacatctggaaGcattgttcagcaggattaac	11	8	3	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:231103027G>A	ENST00000392045.3	+	3	451	c.337G>A	c.(337-339)Gca>Aca	p.A113T	SP140_ENST00000343805.6_Missense_Mutation_p.A113T|SP140_ENST00000350136.5_Missense_Mutation_p.A93T|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Missense_Mutation_p.A113T|SP140_ENST00000420434.3_Missense_Mutation_p.A113T|SP140_ENST00000417495.3_Missense_Mutation_p.A113T|SP140_ENST00000373645.3_Missense_Mutation_p.A113T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	113	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATCTGGAAGCATTGTTCAG	0.428																																					p.A113T		.											.	SP140-90	0			c.G337A						.						120	107	111					2																	231103027		2203	4300	6503	SO:0001583	missense	11262	exon3			CTGGAAGCATTGT	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.337G>A	2.37:g.231103027G>A	ENSP00000375899:p.Ala113Thr	Somatic	257	0		WXS	Illumina GAIIx	Phase_I	363	87	NM_007237	0	0	1	1	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	0.209	-1.037821	0.02013	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	3.7	-0.0865	0.13681	Sp100 (2);	.	.	.	.	D	0.89371	0.6696	L	0.45051	1.395	0.09310	N	1	B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.001;0.001	B;B;B;B;B;B	0.15052	0.004;0.004;0.002;0.012;0.006;0.003	T	0.76833	-0.2813	9	0.28530	T	0.3	-0.6256	6.3711	0.21481	0.4378:0.0:0.5622:0.0	.	113;113;113;113;113;113	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	T	113;113;113;93;113;113;113;113;113	ENSP00000440107:A113T;ENSP00000345846:A93T;ENSP00000375899:A113T;ENSP00000342096:A113T;ENSP00000398210:A113T;ENSP00000362749:A113T	ENSP00000342096:A113T	A	+	1	0	SP140	230811271	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.192000	0.17096	-0.035000	0.13691	-1.581000	0.00855	GCA	.		0.428	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		A	231103027	G	A	231103027	3	1	7	1	0	0	0	0	1	0	0	0	15007	971	34	3	347	3	SP140	2	231103027	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	33571509	231103027	12096346	13	1282											
ALPPL2	251	hgsc.bcm.edu	37	chr2	233274476	233274476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgacctggcgccccGcgccggcaccaccgacgccg	13	22	0	0	rs114768772		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:233274476G>C	ENST00000295453.3	+	11	1545	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	498				R -> P (in Ref. 1; AAA98616 and 4; CAA39425). {ECO:0000305}.|R -> S (in Ref. 3; CAA37374). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTGGCGCCCCGCGCCGGCACC	0.726																																					p.R498P		.											.	ALPPL2-91	0			c.G1493C						.						12	16	15					2																	233274476		2172	4236	6408	SO:0001583	missense	251	exon11			CGCCCCGCGCCGG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1493G>C	2.37:g.233274476G>C	ENSP00000295453:p.Arg498Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	5	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	194	0.08882783882783883	42	0.08536585365853659	21	0.058011049723756904	71	0.12412587412587413	60	0.079155672823219	a	0.009	-1.842776	0.00568	.	.	ENSG00000163286	ENST00000295453	D	0.95622	-3.76	2.39	1.49	0.22878	Alkaline-phosphatase-like, core domain (1);	0.504996	0.18426	N	0.141584	T	0.05640	0.0148	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55425	-0.8143	10	0.02654	T	1	.	6.1524	0.20318	0.3771:0.4391:0.1839:0.0	.	498	P10696	PPBN_HUMAN	P	498	ENSP00000295453:R498P	ENSP00000295453:R498P	R	+	2	0	ALPPL2	232982720	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.066000	0.11598	-0.037000	0.13646	-2.747000	0.00125	CGC	G|0.946;C|0.054		0.726	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		C	233274476	G	C	233274476	3	2	7	1	0	0	0	0	1	0	0	0	549	1087	38	2	1535	2	ALPPL2	2	233274476	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	2171449	233274476	9924897	14	1283											
MYEOV2	150678	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	241075689	241075689	+	Frame_Shift_Del	DEL	C	C	-													ctcggggaacatctcgtccaCcgccggcttcatctcggggc							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:241075689delC	ENST00000607357.1	-	1	31	c.13delG	c.(13-15)gtgfs	p.V5fs	MYEOV2_ENST00000307266.3_Frame_Shift_Del_p.V26fs|MYEOV2_ENST00000489698.1_5'Flank	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	5										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATCTCGTCCACCGCCGGCTTC	0.736																																					p.V26fs		.											.	MYEOV2-68	0			c.76delG						.						6	8	7					2																	241075689		2084	4140	6224	SO:0001589	frameshift_variant	150678	exon1			CGTCCACCGCCGG	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.13delG	2.37:g.241075689delC	ENSP00000475979:p.Val5fs	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	87	30	NM_138336	0	0	0	0	0	Q8N110	Frame_Shift_Del	DEL	ENST00000607357.1	37																																																																																				.		0.736	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		-	241075689	C	-	241075689	7	5	7	1	0	1	0	1	0	0	0	0	10064	507	18	0	706	0	MYEOV2	2	241075689	Frame_Shift_Del	DEL	C	TCGA-OR-A5J7-01A-11D-A29I-10	7801213	241075689	2123684	15	1284											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	4715039	4715039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatatgcccgcctctgGtcggagattccctcggagat	12	11	1	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:4715039G>C	ENST00000443694.2	+	18	2379	c.2379G>C	c.(2377-2379)tgG>tgC	p.W793C	ITPR1_ENST00000354582.6_Missense_Mutation_p.W808C|ITPR1_ENST00000456211.2_Missense_Mutation_p.W793C|ITPR1_ENST00000357086.4_Missense_Mutation_p.W808C|ITPR1_ENST00000423119.2_Missense_Mutation_p.W808C|ITPR1_ENST00000302640.8_Missense_Mutation_p.W793C|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	808					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)	CCCGCCTCTGGTCGGAGATTC	0.552																																					p.W808C		.											.	ITPR1-710	0			c.G2424C						.						102	107	105					3																	4715039		1949	4138	6087	SO:0001583	missense	3708	exon21			CCTCTGGTCGGAG	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.2379G>C	3.37:g.4715039G>C	ENSP00000401671:p.Trp793Cys	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	74	30	NM_001099952	0	0	0	1	1	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322152	0.81580	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93488	-3.23;-3.22;-3.21;-3.21;-3.21;-3.23	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	M	0.88310	2.945	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	0.97760	1.0220	10	0.87932	D	0	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	793;808;808	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	C	808;793;808;808;808;793;793	ENSP00000306253:W793C;ENSP00000346595:W808C;ENSP00000405934:W808C;ENSP00000349597:W808C;ENSP00000397885:W793C;ENSP00000401671:W793C	ENSP00000306253:W793C	W	+	3	0	ITPR1	4690039	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	TGG	.		0.552	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4715039	G	C	4715039	3	2	7	1	0	0	0	0	1	0	0	0	7947	1270	44	3	2498	3	ITPR1	3	4715039	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		4715039	193307391	16	1285											
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9780990	9780990	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaacctggccgtgcaccagGagtgctacggtgtcccctat	12	14	0	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9780990G>C	ENST00000457855.1	+	2	918	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	BRPF1_ENST00000433861.2_Missense_Mutation_p.E303Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.E303Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.E303Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.E303Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	303					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGTGCACCAGGAGTGCTACGG	0.572																																					p.E303Q		.											.	BRPF1-92	0			c.G907C						.						95	75	82					3																	9780990		2203	4300	6503	SO:0001583	missense	7862	exon3			CACCAGGAGTGCT	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.907G>C	3.37:g.9780990G>C	ENSP00000410210:p.Glu303Gln	Somatic	260	0		WXS	Illumina GAIIx	Phase_I	202	65	NM_001003694	0	0	6	8	2	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655845	0.88056	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	6.07	6.07	0.98685	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.986;0.996;0.998	D	0.92638	0.6122	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	303;303;303;303	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	303	ENSP00000402485:E303Q;ENSP00000398863:E303Q;ENSP00000373340:E303Q;ENSP00000306297:E303Q;ENSP00000410210:E303Q	ENSP00000306297:E303Q	E	+	1	0	BRPF1	9755990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	GAG	.		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		C	9780990	G	C	9780990	3	2	7	1	0	0	0	0	1	0	0	0	1524	1175	41	3	913	3	BRPF1	3	9780990	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	5065951	9780990	188241440	17	1286											
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9787330	9787330	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcccagaggacagcagtgagGatacctcaggcactgagaat	12	10	1	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9787330G>C	ENST00000457855.1	+	10	3135	c.3124G>C	c.(3124-3126)Gat>Cat	p.D1042H	BRPF1_ENST00000433861.2_Missense_Mutation_p.D947H|BRPF1_ENST00000302054.3_Missense_Mutation_p.D1042H|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1041H|BRPF1_ENST00000383829.2_Missense_Mutation_p.D1048H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1042	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)			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)					CAGCAGTGAGGATACCTCAGG	0.617																																					p.D1048H		.											.	BRPF1-92	0			c.G3142C						.						67	65	66					3																	9787330		2203	4300	6503	SO:0001583	missense	7862	exon11			AGTGAGGATACCT	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.3124G>C	3.37:g.9787330G>C	ENSP00000410210:p.Asp1042His	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	173	50	NM_001003694	0	0	9	22	13	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989197	0.74589	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18960	2.21;2.18;3.58;2.18;2.18	5.76	5.76	0.90799	.	0.046113	0.85682	D	0.000000	T	0.30727	0.0774	L	0.43152	1.355	0.80722	D	1	P;P;P;B	0.39883	0.693;0.514;0.514;0.38	P;B;B;B	0.46144	0.505;0.264;0.264;0.193	T	0.00675	-1.1615	10	0.48119	T	0.1	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	947;1041;1048;1042	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	947;1041;1048;1042;1042	ENSP00000402485:D947H;ENSP00000398863:D1041H;ENSP00000373340:D1048H;ENSP00000306297:D1042H;ENSP00000410210:D1042H	ENSP00000306297:D1042H	D	+	1	0	BRPF1	9762330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.713000	0.92767	0.655000	0.94253	GAT	.		0.617	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		C	9787330	G	C	9787330	3	2	7	1	0	0	0	0	1	0	0	0	1524	1174	41	3	3180	3	BRPF1	3	9787330	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	6340	9787330	188235100	18	1287											
OGG1	4968	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9792837	9792837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcaccactggggttccGtggactcccacttccaagag	10	13	1	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9792837G>A	ENST00000344629.7	+	2	689	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	OGG1_ENST00000302008.8_Missense_Mutation_p.V116M|OGG1_ENST00000302036.7_Missense_Mutation_p.V116M|OGG1_ENST00000349503.5_Missense_Mutation_p.V116M|OGG1_ENST00000383826.5_Missense_Mutation_p.V116M|OGG1_ENST00000339511.5_Missense_Mutation_p.V116M|OGG1_ENST00000449570.2_Missense_Mutation_p.V116M|OGG1_ENST00000302003.7_Missense_Mutation_p.V116M			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	116					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CTGGGGTTCCGTGGACTCCCA	0.557								Base excision repair (BER), DNA glycosylases																													p.V116M		.											.	OGG1-660	0			c.G346A						.						70	61	64					3																	9792837		2203	4300	6503	SO:0001583	missense	4968	exon2			GGTTCCGTGGACT	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.346G>A	3.37:g.9792837G>A	ENSP00000342851:p.Val116Met	Somatic	232	1		WXS	Illumina GAIIx	Phase_I	196	55	NM_016819	0	0	8	16	8	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.91|14.91	2.677581|2.677581	0.47886|0.47886	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	.|T;T;T;T;T;T;T;T	.|0.54675	.|0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.54|5.54	3.64|3.64	0.41730|0.41730	.|8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	.|0.545309	.|0.20991	.|N	.|0.082030	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	.|B;P;D;P;P;P;B;P	.|0.54397	.|0.256;0.816;0.966;0.849;0.63;0.849;0.328;0.708	.|B;B;B;B;B;B;B;B	.|0.37422	.|0.058;0.111;0.249;0.159;0.113;0.105;0.095;0.101	T|T	0.27468|0.27468	-1.0073|-1.0073	5|10	.|0.46703	.|T	.|0.11	-4.8451|-4.8451	6.1633|6.1633	0.20376|0.20376	0.1637:0.0:0.6906:0.1457|0.1637:0.0:0.6906:0.1457	.|.	.|116;116;116;116;116;116;116;116	.|E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	H|M	21|116	.|ENSP00000305584:V116M;ENSP00000342851:V116M;ENSP00000306561:V116M;ENSP00000303132:V116M;ENSP00000345520:V116M;ENSP00000403598:V116M;ENSP00000305527:V116M;ENSP00000373337:V116M	.|ENSP00000305584:V116M	R|V	+|+	2|1	0|0	OGG1|OGG1	9767837|9767837	0.999000|0.999000	0.42202|0.42202	0.245000|0.245000	0.24217|0.24217	0.986000|0.986000	0.74619|0.74619	4.201000|4.201000	0.58439|0.58439	0.610000|0.610000	0.30035|0.30035	0.655000|0.655000	0.94253|0.94253	CGT|GTG	.		0.557	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		A	9792837	G	A	9792837	3	1	7	1	0	0	0	0	1	0	0	0	10884	1145	40	1	352	1	OGG1	3	9792837	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	5507	9792837	188229593	19	1288											
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	37368506	37368506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaacattaattgtacccaGatcagcaaaaaatgtggcag	8	7	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:37368506G>T	ENST00000361924.2	+	14	5503	c.5129G>T	c.(5128-5130)aGa>aTa	p.R1710I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1732I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1710	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTGTACCCAGATCAGCAAAA	0.363																																					p.R1732I		.											.	GOLGA4-93	0			c.G5195T						.						116	126	122					3																	37368506		2202	4297	6499	SO:0001583	missense	2803	exon15			TACCCAGATCAGC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5129G>T	3.37:g.37368506G>T	ENSP00000354486:p.Arg1710Ile	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	146	56	NM_001172713	1	0	82	98	15	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773160	0.16051	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.89;1.89;1.89	4.17	0.133	0.14766	.	0.795969	0.10375	N	0.682292	T	0.19406	0.0466	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.35176	-0.9799	10	0.35671	T	0.21	.	0.2817	0.00246	0.2992:0.2006:0.2971:0.2031	.	1710;1710;1732;1710	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	1710;1732;1581	ENSP00000354486:R1710I;ENSP00000349305:R1732I;ENSP00000405842:R1581I	ENSP00000349305:R1732I	R	+	2	0	GOLGA4	37343510	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	0.548000	0.23314	0.111000	0.17947	0.561000	0.74099	AGA	.		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37368506	G	T	37368506	3	4	7	1	0	0	0	0	1	0	0	0	6581	942	33	3	5253	3	GOLGA4	3	37368506	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	27575669	37368506	160653924	20	1289											
XIRP1	165904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39227962	39227962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcctgaggagggcaaGgggtggcccctgaggctctc	17	11	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:39227962G>A	ENST00000340369.3	-	2	3203	c.2975C>T	c.(2974-2976)cCt>cTt	p.P992L	XIRP1_ENST00000396251.1_Missense_Mutation_p.P992L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	992					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAGGGCAAGGGGTGGCCCC	0.607																																					p.P992L		.											.	XIRP1-158	0			c.C2975T						.						41	42	42					3																	39227962		2202	4298	6500	SO:0001583	missense	165904	exon2			GGGCAAGGGGTGG	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2975C>T	3.37:g.39227962G>A	ENSP00000343140:p.Pro992Leu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	44	19	NM_001198621	0	0	0	0	0	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151578	0.21371	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04970	3.52;3.89	4.32	4.32	0.51571	.	3.878270	0.01100	U	0.005353	T	0.12518	0.0304	L	0.56769	1.78	0.80722	D	1	B;B	0.30482	0.281;0.16	B;B	0.28305	0.041;0.088	T	0.31998	-0.9923	10	0.72032	D	0.01	.	13.0284	0.58829	0.0:0.0:1.0:0.0	.	992;992	Q702N8;Q702N8-2	XIRP1_HUMAN;.	L	992	ENSP00000379550:P992L;ENSP00000343140:P992L	ENSP00000343140:P992L	P	-	2	0	XIRP1	39202966	0.065000	0.20965	0.004000	0.12327	0.296000	0.27459	2.690000	0.47001	2.361000	0.80049	0.650000	0.86243	CCT	.		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39227962	G	A	39227962	3	1	7	1	0	0	0	0	1	0	0	0	17478	1000	35	3	2560	3	XIRP1	3	39227962	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	1859456	39227962	158794468	21	1290											
HSPBAP1	79663	broad.mit.edu	37	chr3	122487688	122487688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcagaaactcttcgaGtgtagcttctacgtaattac	8	10	3	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:122487688G>T	ENST00000306103.2	-	3	435	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Missense_Mutation_p.L98I	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	98	Interaction with HSPB1. {ECO:0000250}.					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)		AACTCTTCGAGTGTAGCTTCT	0.358																																					p.L98I		.											.	HSPBAP1-227	0			c.C292A						.						69	68	68					3																	122487688		2203	4300	6503	SO:0001583	missense	79663	exon3			CTTCGAGTGTAGC	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.292C>A	3.37:g.122487688G>T	ENSP00000302562:p.Leu98Ile	Somatic	206	3		WXS	Illumina GAIIx	Phase_I	193	7	NM_024610	0	0	7	7	0	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233542	0.58886	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.22336	1.96;1.96	4.98	4.1	0.47936	.	0.131711	0.52532	D	0.000066	T	0.23727	0.0574	L	0.38531	1.155	0.30777	N	0.742406	P;D	0.54397	0.89;0.966	B;P	0.49999	0.396;0.628	T	0.06972	-1.0797	10	0.31617	T	0.26	.	13.1392	0.59426	0.0:0.1604:0.8396:0.0	.	98;98	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	I	98	ENSP00000373155:L98I;ENSP00000302562:L98I	ENSP00000302562:L98I	L	-	1	0	HSPBAP1	123970378	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.695000	0.47043	1.214000	0.43395	0.655000	0.94253	CTC	.		0.358	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		T	122487688	G	T	122487688	3	4	7	1	0	0	0	0	1	0	0	0	7452	1029	36	3	1198	3	HSPBAP1	3	122487688	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	83259726	122487688	75534742	22	1291											
HRG	3273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	186386808	186386808	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaaatactggaatgactgtGagccacctgattccagacgt	11	9	0	4			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:186386808G>C	ENST00000232003.4	+	2	348	c.268G>C	c.(268-270)Gag>Cag	p.E90Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	90	Cystatin 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAATGACTGTGAGCCACCTGA	0.413																																					p.E90Q		.											.	HRG-91	0			c.G268C						.						120	118	119					3																	186386808		2203	4300	6503	SO:0001583	missense	3273	exon2			GACTGTGAGCCAC		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.268G>C	3.37:g.186386808G>C	ENSP00000232003:p.Glu90Gln	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	122	19	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107571	0.37145	.	.	ENSG00000113905	ENST00000232003	T	0.27557	1.66	4.4	-4.56	0.03431	Proteinase inhibitor I25, cystatin (2);	2.039330	0.02221	N	0.064032	T	0.33818	0.0876	L	0.51422	1.61	0.09310	N	1	P	0.39282	0.666	P	0.47102	0.537	T	0.33904	-0.9850	10	0.18710	T	0.47	0.746	7.9346	0.29923	0.6557:0.1418:0.2025:0.0	.	90	P04196	HRG_HUMAN	Q	90	ENSP00000232003:E90Q	ENSP00000232003:E90Q	E	+	1	0	HRG	187869502	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.518000	0.06267	-1.016000	0.03371	0.655000	0.94253	GAG	.		0.413	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		C	186386808	G	C	186386808	3	2	7	1	0	0	0	0	1	0	0	0	7381	1291	45	3	274	3	HRG	3	186386808	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	63899120	186386808	11635622	23	1292											
TET2	54790	hgsc.bcm.edu;bcgsc.ca	37	chr4	106157773	106157773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagcagaagtcacaaCaagcttcagttctacaggga	10	9	3	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:106157773C>G	ENST00000540549.1	+	3	3534	c.2674C>G	c.(2674-2676)Caa>Gaa	p.Q892E	TET2_ENST00000545826.1_Missense_Mutation_p.Q892E|TET2_ENST00000305737.2_Missense_Mutation_p.Q892E|TET2_ENST00000413648.2_Missense_Mutation_p.Q892E|TET2_ENST00000380013.4_Missense_Mutation_p.Q892E|TET2_ENST00000513237.1_Missense_Mutation_p.Q913E|TET2_ENST00000394764.1_Missense_Mutation_p.Q892E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	892	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAAGTCACAACAAGCTTCAGT	0.403			"Mis N, F"		MDS																																p.Q892E		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	0			c.C2674G						.						55	54	54					4																	106157773		2203	4300	6503	SO:0001583	missense	54790	exon3			TCACAACAAGCTT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2674C>G	4.37:g.106157773C>G	ENSP00000442788:p.Gln892Glu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	90	10	NM_001127208	0	0	0	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623121	0.66901	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.06294	3.36;4.18;3.32;4.18;4.18;3.36;3.39	5.79	5.79	0.91817	.	3.063960	0.01312	N	0.010668	T	0.12774	0.0310	L	0.34521	1.04	0.26511	N	0.974604	P;P;P	0.46142	0.682;0.682;0.873	B;B;P	0.44811	0.156;0.156;0.461	T	0.55173	-0.8182	10	0.39692	T	0.17	.	18.2205	0.89899	0.0:1.0:0.0:0.0	.	913;892;892	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	E	892;892;892;913;892;892;892	ENSP00000306705:Q892E;ENSP00000442788:Q892E;ENSP00000442867:Q892E;ENSP00000425443:Q913E;ENSP00000369351:Q892E;ENSP00000378245:Q892E;ENSP00000391448:Q892E	ENSP00000265149:Q892E	Q	+	1	0	TET2	106377222	0.347000	0.24853	0.055000	0.19348	0.898000	0.52572	4.263000	0.58853	2.733000	0.93635	0.655000	0.94253	CAA	.		0.403	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106157773	C	G	106157773	3	3	7	1	0	0	0	0	1	0	0	0	15817	479	17	3	2676	3	TET2	4	106157773	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		106157773	84996503	24	1293											
C4orf32	132720	hgsc.bcm.edu	37	chr4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcggcagggaccgGgtgggatcccggggcgagcc	23	11	0	0	rs10002700	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1	1	5008	,	,		5782	1		0.996	False		,,,				2504	1				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3	5	4		95	2	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_152400	0	0	0	1	1	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066831	G	A	113066831	3	1	7	1	0	0	0	0	1	0	0	0	2269	1232	43	3	97	3	C4orf32	4	113066831	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	6909058	113066831	78087445	25	1294											
PRMT10	90826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	148605040	148605040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacgcccagacagtgCtctgcgctctgcaaggaccg	12	15	2	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:148605040C>T	ENST00000322396.6	-	1	341	c.99G>A	c.(97-99)gaG>gaA	p.E33E	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		33						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCAGACAGTGCTCTGCGCTCT	0.697																																					p.E33E		.											.	PRMT10-91	0			c.G99A						.						48	51	50					4																	148605040		2203	4300	6503	SO:0001819	synonymous_variant	90826	exon1			ACAGTGCTCTGCG																												ENST00000322396.6:c.99G>A	4.37:g.148605040C>T		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	108	35	NM_138364	0	0	2	2	0	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	CCDS3771.1																																																																																			.		0.697	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			T	148605040	C	T	148605040	2	4	7	1	0	0	0	0	0	0	0	1	12578	796	28	3		3	PRMT10	4	148605040	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	35538209	148605040	42549236	26	1295											
FBXO8	26269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	175184113	175184113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctccttggacttgtttaCgatgattggtgttagaaatg	11	6	0	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:175184113C>T	ENST00000393674.2	-	2	993	c.131G>A	c.(130-132)cGt>cAt	p.R44H	FBXO8_ENST00000503293.1_Missense_Mutation_p.R44H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	44					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GACTTGTTTACGATGATTGGT	0.448																																					p.R44H		.											.	FBXO8-290	0			c.G131A						.						252	224	234					4																	175184113		2203	4300	6503	SO:0001583	missense	26269	exon2			TGTTTACGATGAT	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.131G>A	4.37:g.175184113C>T	ENSP00000377280:p.Arg44His	Somatic	311	1		WXS	Illumina GAIIx	Phase_I	195	73	NM_012180	0	0	18	34	16	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670674	0.47781	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000513696	T;T	0.30448	2.44;1.53	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.24115	0.695	0.58432	D	0.999996	B;D	0.55385	0.022;0.971	B;B	0.39258	0.003;0.295	T	0.05818	-1.0862	10	0.87932	D	0	.	20.1336	0.98010	0.0:1.0:0.0:0.0	.	44;44	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	H	44	ENSP00000377280:R44H;ENSP00000422905:R44H	ENSP00000377280:R44H	R	-	2	0	FBXO8	175420688	0.998000	0.40836	0.972000	0.41901	0.427000	0.31564	3.569000	0.53827	2.767000	0.95098	0.591000	0.81541	CGT	.		0.448	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		T	175184113	C	T	175184113	3	4	7	1	0	0	0	0	1	0	0	0	5783	536	19	1	848	1	FBXO8	4	175184113	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	26579073	175184113	15970163	27	1296											
SLC6A19	340024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	1214090	1214090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggagctggcccagccggAcacctggctggacgcgggcg	17	15	0	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:1214090A>G	ENST00000304460.10	+	6	853	c.797A>G	c.(796-798)gAc>gGc	p.D266G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCAGCCGGACACCTGGCTG	0.657																																					p.D266G		.											.	SLC6A19-90	0			c.A797G						.						79	82	81					5																	1214090		2203	4300	6503	SO:0001583	missense	340024	exon6			AGCCGGACACCTG	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.797A>G	5.37:g.1214090A>G	ENSP00000305302:p.Asp266Gly	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	58	14	NM_001003841	0	0	0	0	0	A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	A	6.083	0.383654	0.11524	.	.	ENSG00000174358	ENST00000304460	T	0.74526	-0.85	4.96	-3.44	0.04796	.	1.777960	0.02977	N	0.145089	T	0.52789	0.1756	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28427	-1.0044	10	0.23302	T	0.38	.	3.9037	0.09172	0.2893:0.2173:0.0:0.4934	.	266	Q695T7	S6A19_HUMAN	G	266	ENSP00000305302:D266G	ENSP00000305302:D266G	D	+	2	0	SLC6A19	1267090	0.094000	0.21725	0.035000	0.18076	0.653000	0.38743	0.201000	0.17276	-0.499000	0.06623	-0.529000	0.04317	GAC	.		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		G	1214090	A	G	1214090	3	3	7	1	0	0	0	0	1	0	0	0	14727	275	10	4	819	4	SLC6A19	5	1214090	Missense_Mutation	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10		1214090	179701170	28	1297											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000506139.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000504286.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	7	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	5419689	6633779	174281481	29	1298											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13753560	13753560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaatggaattttccgggCtttcatttccttccgccagt	7	12	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:13753560C>A	ENST00000265104.4	-	63	10758	c.10654G>T	c.(10654-10656)Gcc>Tcc	p.A3552S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3552					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)					ATTTTCCGGGCTTTCATTTCC	0.408									Kartagener syndrome																												p.A3552S		.											.	DNAH5-182	0			c.G10654T						.						118	120	119					5																	13753560		2203	4300	6503	SO:0001583	missense	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCCGGGCTTTCAT	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.10654G>T	5.37:g.13753560C>A	ENSP00000265104:p.Ala3552Ser	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	140	37	NM_001369	0	0	1	1	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662393	0.14645	.	.	ENSG00000039139	ENST00000265104	T	0.59638	0.25	5.77	3.6	0.41247	.	0.572275	0.20267	N	0.095744	T	0.29588	0.0738	N	0.04746	-0.17	0.34505	D	0.706523	B	0.02656	0.0	B	0.08055	0.003	T	0.28964	-1.0027	10	0.12103	T	0.63	.	7.2681	0.26242	0.1663:0.6913:0.0:0.1424	.	3552	Q8TE73	DYH5_HUMAN	S	3552	ENSP00000265104:A3552S	ENSP00000265104:A3552S	A	-	1	0	DNAH5	13806560	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.400000	0.20932	1.553000	0.49476	0.655000	0.94253	GCC	.		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13753560	C	A	13753560	3	1	7	1	0	0	0	0	1	0	0	0	4618	797	28	3	3288	3	DNAH5	5	13753560	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	7119781	13753560	167161700	30	1299											
ANKRD55	79722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	55439737	55439737	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttgtggaaagccgccCagtggagtggtgtcattccc	15	10	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:55439737C>T	ENST00000341048.4	-	7	654	c.503G>A	c.(502-504)tGg>tAg	p.W168*	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000513241.2_Nonsense_Mutation_p.W139*|ANKRD55_ENST00000505970.2_5'UTR|RNA5SP184_ENST00000411071.1_RNA	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	168										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GAAAGCCGCCCAGTGGAGTGG	0.532																																					p.W168X		.											.	ANKRD55-91	0			c.G503A						.						225	224	224					5																	55439737		2203	4300	6503	SO:0001587	stop_gained	79722	exon7			GCCGCCCAGTGGA	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.503G>A	5.37:g.55439737C>T	ENSP00000342295:p.Trp168*	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	108	23	NM_024669	0	0	0	0	0	B3KVT8|Q3KP45|Q9HAD3	Nonsense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	37	6.176110	0.97348	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000513241	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	.	.	.	X	168;168;139	.	ENSP00000342295:W168X	W	-	2	0	ANKRD55	55475494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.518000	0.84900	0.650000	0.86243	TGG	.		0.532	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		T	55439737	C	T	55439737	4	4	7	1	0	0	0	0	0	1	0	0	681	595	21	3	1365	3	ANKRD55	5	55439737	Nonsense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	41686177	55439737	125475523	31	1300											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	7	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	76709947	132149684	48765576	32	1301											
HMMR	3161	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	162911139	162911139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatggtgcagctcaggAacagctaaataaaataagag	10	6	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:162911139A>G	ENST00000358715.3	+	16	1883	c.1847A>G	c.(1846-1848)gAa>gGa	p.E616G	RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.E617G|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.E530G|HMMR_ENST00000353866.3_Missense_Mutation_p.E601G			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	616					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GCAGCTCAGGAACAGCTAAAT	0.299																																					p.E617G		.											.	HMMR-90	0			c.A1850G						.						48	51	50					5																	162911139		2203	4297	6500	SO:0001583	missense	3161	exon16			CTCAGGAACAGCT	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1847A>G	5.37:g.162911139A>G	ENSP00000351554:p.Glu616Gly	Somatic	159	1		WXS	Illumina GAIIx	Phase_I	257	87	NM_001142556	0	0	9	10	1	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605439	0.87157	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.45	5.45	0.79879	.	0.253662	0.46442	D	0.000295	T	0.26774	0.0655	M	0.69823	2.125	0.52501	D	0.99995	D;B;P;P	0.57257	0.979;0.075;0.481;0.481	P;B;B;B	0.54815	0.761;0.046;0.245;0.245	T	0.01269	-1.1400	10	0.72032	D	0.01	-11.7337	15.8008	0.78453	1.0:0.0:0.0:0.0	.	530;617;601;616	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	G	502;601;617;593;530;616	ENSP00000400527:E502G;ENSP00000185942:E601G;ENSP00000377492:E617G;ENSP00000402673:E530G;ENSP00000351554:E616G	ENSP00000185942:E601G	E	+	2	0	HMMR	162843717	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.978000	0.88095	2.189000	0.69895	0.528000	0.53228	GAA	.		0.299	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		G	162911139	A	G	162911139	3	3	7	1	0	0	0	0	1	0	0	0	7269	246	9	4	1912	4	HMMR	5	162911139	Missense_Mutation	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	30761455	162911139	18004121	33	1302											
NSD1	64324	hgsc.bcm.edu	37	chr5	176722232	176722233	+	In_Frame_Ins	INS	-	-	CAA													agaagttggtaaccacagagINScaaagtccctgggccctggg							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:176722232_176722233insCAA	ENST00000439151.2	+	23	7908_7909	c.7863_7864insCAA	c.(7864-7866)caa>CAAcaa	p.2622_2622Q>QQ	NSD1_ENST00000361032.4_In_Frame_Ins_p.2519_2519Q>QQ|NSD1_ENST00000347982.4_In_Frame_Ins_p.2353_2353Q>QQ|NSD1_ENST00000354179.4_In_Frame_Ins_p.2353_2353Q>QQ	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2622					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)		TAACCACAGAGCAAAGTCCCTG	0.584			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.E2621delinsEQ		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.7863_7864insCAA						.																																			SO:0001652	inframe_insertion	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	CACAGAGCAAAGT	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.7864_7866dupCAA	5.37:g.176722233_176722235dupCAA	ENSP00000395929:p.Gln2622dup	Somatic	112	2		WXS	Illumina GAIIx	Phase_I	238	45	NM_022455	0	0	0	0	0	Q96PD8|Q96RN7	In_Frame_Ins	INS	ENST00000439151.2	37	CCDS4412.1																																																																																			.		0.584	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		CAA	176722233	-	CAA	176722232	7	5	7	1	0	1	1	0	0	0	0	0	10708	962	34	0	7949	0	NSD1	5	176722232	In_Frame_Ins	INS	-	TCGA-OR-A5J7-01A-11D-A29I-10	13811093	176722232	4193028	34	1303											
MDC1	9656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagaatggggattcccCgccccagggcacacaggaac	14	13	0	1	rs148600920		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597								Other conserved DNA damage response genes					C|||	1	0.000199681	0	0	5008	,	,		14143	0		0.001	False		,,,				2504	0				p.R1943Q		.											.	MDC1-273	0			c.G5828A						.	C	GLN/ARG	1,3015		0,1,1507	58	53	55		5828	3.7	1	6	dbSNP_134	55	5,5411		0,5,2703	yes	missense	MDC1	NM_014641.2	43	0,6,4210	TT,TC,CC		0.0923,0.0332,0.0712	probably-damaging	1943/2090	30670918	6,8426	1508	2708	4216	SO:0001583	missense	9656	exon12			ATTCCCCGCCCCA	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5828G>A	6.37:g.30670918C>T	ENSP00000365588:p.Arg1943Gln	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	224	20	NM_014641	0	0	27	31	4	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361982	0.82353	3.32E-4	9.23E-4	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.86497	-2.13;-2.13	5.45	3.65	0.41850	BRCT (3);	0.280924	0.19743	N	0.107076	D	0.83496	0.5267	M	0.62154	1.92	0.32702	N	0.512756	D;D	0.89917	0.999;1.0	P;P	0.59643	0.688;0.861	T	0.77691	-0.2493	10	0.22109	T	0.4	-8.5462	7.4979	0.27500	0.0:0.7423:0.0:0.2577	.	1943;920	Q14676;Q14676-4	MDC1_HUMAN;.	Q	1943;1679;1656;1509	ENSP00000365588:R1943Q;ENSP00000365587:R1679Q	ENSP00000365587:R1679Q	R	-	2	0	MDC1	30778897	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.103000	0.41806	0.773000	0.33404	0.555000	0.69702	CGG	C|0.999;T|0.001		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		T	30670918	C	T	30670918	3	4	7	1	0	0	0	0	1	0	0	0	9441	652	23	1	457	1	MDC1	6	30670918	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		30670918	140444149	35	1304											
HLA-DRB1	3123	bcgsc.ca	37	chr6	32548554	32548554	+	Silent	SNP	G	G	T													ctgaagtagatgaacagcccGgccccaaggaagagcaggcc					rs3830126		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:32548554G>T	ENST00000360004.5	-	4	837	c.732C>A	c.(730-732)gcC>gcA	p.A244A		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGAACAGCCCGGCCCCAAGGA	0.557										Multiple Myeloma(14;0.17)																											p.A244A		.											.	HLA-DRB1-1	0			c.C732A						.						89	103	98					6																	32548554		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon4			CAGCCCGGCCCCA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.732C>A	6.37:g.32548554G>T		Somatic	374	6		WXS	Illumina GAIIx	Phase_I	482	23	NM_002124	0	0	35	35	0	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			.		0.557	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548554	G	T	32548554	2	4	7	1	0	0	0	0	0	0	0	1	7235	1103	39	2		2	HLA-DRB1	6	32548554	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	1877636	32548554	138566513	36	1305	13	2									
HLA-DRB1	3123	bcgsc.ca	37	chr6	32548556	32548556	+	Missense_Mutation	SNP	C	C	T													gaagtagatgaacagcccggCcccaaggaagagcaggccca					rs3830125		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:32548556C>T	ENST00000360004.5	-	4	835	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AACAGCCCGGCCCCAAGGAAG	0.552										Multiple Myeloma(14;0.17)																											p.A244T		.											.	HLA-DRB1-1	0			c.G730A						.						90	104	99					6																	32548556		1511	2709	4220	SO:0001583	missense	3123	exon4			GCCCGGCCCCAAG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.730G>A	6.37:g.32548556C>T	ENSP00000353099:p.Ala244Thr	Somatic	380	7		WXS	Illumina GAIIx	Phase_I	486	22	NM_002124	0	0	30	30	0	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	6.616	0.482155	0.12581	.	.	ENSG00000196126	ENST00000360004	T	0.00730	5.77	3.98	-0.294	0.12831	.	1.209560	0.05711	N	0.596048	T	0.00967	0.0032	L	0.54323	1.7	0.09310	N	1	B;B;D	0.76494	0.009;0.005;0.999	B;B;D	0.81914	0.03;0.014;0.995	T	0.46176	-0.9210	10	0.62326	D	0.03	.	4.2536	0.10707	0.1362:0.5351:0.2335:0.0951	rs3830125;rs17849963	244;244;244	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	T	244	ENSP00000353099:A244T	ENSP00000353099:A244T	A	-	1	0	HLA-DRB1	32656534	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.150000	0.16263	-0.354000	0.08212	-0.397000	0.06425	GCC	.		0.552	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		T	32548556	C	T	32548556	3	4	7	1	0	0	0	0	1	0	0	0	7235	739	26	3	82	3	HLA-DRB1	6	32548556	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	2	32548556	138566511	37	1306	13	2									
BAI3	577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	69665933	69665933	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagttgatggacagtggcaaGagtggagttcgtggagccag	17	5	0	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:69665933G>C	ENST00000370598.1	+	7	2034	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	405	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)				ACAGTGGCAAGAGTGGAGTTC	0.517																																					p.E405Q		.											.	BAI3-1148	0			c.G1213C						.						103	91	95					6																	69665933		2203	4300	6503	SO:0001583	missense	577	exon7			TGGCAAGAGTGGA	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.1213G>C	6.37:g.69665933G>C	ENSP00000359630:p.Glu405Gln	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	69	16	NM_001704	0	0	0	0	0	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483269	0.84854	.	.	ENSG00000135298	ENST00000370598	T	0.54279	0.58	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.63576	-0.6606	10	0.62326	D	0.03	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	405	O60242	BAI3_HUMAN	Q	405	ENSP00000359630:E405Q	ENSP00000359630:E405Q	E	+	1	0	BAI3	69722654	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.869000	0.99810	2.701000	0.92244	0.591000	0.81541	GAG	.		0.517	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			C	69665933	G	C	69665933	3	2	7	1	0	0	0	0	1	0	0	0	1301	943	33	3	1231	3	BAI3	6	69665933	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	37117377	69665933	101449134	38	1307											
RPF2	84154	broad.mit.edu	37	chr6	111346769	111346769	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacgagaaaaagtcaaaaaGaattaaaaaaaattgatgga	7	4	1	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:111346769G>A	ENST00000441448.2	+	10	997	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	302						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAGTCAAAAAGAATTAAAAAA	0.373																																					p.R302K		.											.	RPF2-92	0			c.G905A						.						33	36	35					6																	111346769		2201	4300	6501	SO:0001583	missense	84154	exon10			CAAAAAGAATTAA	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.905G>A	6.37:g.111346769G>A	ENSP00000402338:p.Arg302Lys	Somatic	41	4		WXS	Illumina GAIIx	Phase_I	66	9	NM_032194	1	0	20	21	0	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213817	0.01555	.	.	ENSG00000197498	ENST00000441448	T	0.69435	-0.4	5.8	1.59	0.23543	.	0.584411	0.18981	N	0.125890	T	0.15696	0.0378	N	0.08118	0	0.29496	N	0.85528	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	10	0.06365	T	0.9	-11.3072	7.9523	0.30023	0.5182:0.0:0.4818:0.0	.	302;302	A8K800;Q9H7B2	.;RPF2_HUMAN	K	302	ENSP00000402338:R302K	ENSP00000402338:R302K	R	+	2	0	RPF2	111453462	1.000000	0.71417	0.986000	0.45419	0.004000	0.04260	0.951000	0.29135	0.402000	0.25451	-0.251000	0.11542	AGA	.		0.373	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		A	111346769	G	A	111346769	3	1	7	1	0	0	0	0	1	0	0	0	13592	942	33	3	943	3	RPF2	6	111346769	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	41680836	111346769	59768298	39	1308											
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136582203	136582396	+	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-													caaaaatcaggtaaaaaaaaTggtgggtgcaagttctgctc					rs376948280|rs537502804|rs562481221|rs527483217|rs112744301|rs375440569|rs74299323|rs370252607|rs570210520|rs111800140|rs370457195|rs76890371|rs193167212	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	ENST00000531224.1	-	0	3010_3060				BCLAF1_ENST00000527759.1_Stop_Codon_Del|BCLAF1_ENST00000353331.4_Stop_Codon_Del|BCLAF1_ENST00000392348.2_Stop_Codon_Del|BCLAF1_ENST00000527536.1_Stop_Codon_Del|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Stop_Codon_Del|BCLAF1_ENST00000031135.9_Stop_Codon_Del	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						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)		GTAAAAAAAATGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATTTTATACCTTT	0.299																																					p.920_921del	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.2758_3016del						.																																			SO:0001567	stop_retained_variant	9774	exon13			AAAAAATGGTGGG	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	Exception_encountered	6.37:g.136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	Exception_encountered	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	208	0	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	CCDS5177.1																																																																																			.		0.299	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		-	136582396	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	136582203	7	5	7	1	0	1	0	1	0	0	0	0	1384	1479	51	0		0	BCLAF1	6	136582203	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TCGA-OR-A5J7-01A-11D-A29I-10	25235434	136582203	34532864	40	1309											
EVX1	2128	hgsc.bcm.edu	37	chr7	27282894	27282894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcggcggggccgggcgCcgagccccaggtagctgggg	21	14	0	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:27282894C>T	ENST00000496902.4	+	1	731	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.A82V			P49640	EVX1_HUMAN	even-skipped homeobox 1	82					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						gggccgggcgccgAGCCCCAG	0.776																																					p.A82V		.											.	EVX1-91	0			c.C245T						.						2	3	3					7																	27282894		1608	3331	4939	SO:0001583	missense	2128	exon1			CGGGCGCCGAGCC		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.245C>T	7.37:g.27282894C>T	ENSP00000419266:p.Ala82Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	11	NM_001989	0	0	0	0	0	A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012411	0.35511	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.91464	-2.85	5.03	5.03	0.67393	.	0.660570	0.16403	N	0.215940	D	0.87253	0.6131	L	0.43152	1.355	0.80722	D	1	B;B	0.30686	0.29;0.139	B;B	0.35413	0.202;0.035	T	0.82870	-0.0243	10	0.20046	T	0.44	-2.5679	13.1573	0.59524	0.0:0.701:0.299:0.0	.	82;82	F8W9J5;P49640	.;EVX1_HUMAN	V	82	ENSP00000419266:A82V	ENSP00000222761:A82V	A	+	2	0	EVX1	27249419	0.987000	0.35691	1.000000	0.80357	0.815000	0.46073	1.598000	0.36740	2.333000	0.79357	0.462000	0.41574	GCC	.		0.776	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			T	27282894	C	T	27282894	3	4	7	1	0	0	0	0	1	0	0	0	5310	739	26	3	247	3	EVX1	7	27282894	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		27282894	131855769	41	1310											
EPDR1	54749	hgsc.bcm.edu	37	chr7	37960577	37960577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctccgcaccgtcccgggCgccctgggtgcctggctgct	13	20	0	0	rs147877097	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:37960577C>A	ENST00000199448.4	+	1	415	c.36C>A	c.(34-36)ggC>ggA	p.G12G	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Silent_p.G12G|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Silent_p.G132G	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	12					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGTCCCGGGCGCCCTGGGTG	0.786													C|||	20	0.00399361	8e-04	0.0159	5008	,	,		11784	0		0.007	False		,,,				2504	0.001				p.G12G		.											.	EPDR1-91	0			c.C36A						.	C		8,3816		0,8,1904	4	5	5		396	-1.9	0	7	dbSNP_134	5	83,7553		1,81,3736	no	coding-synonymous	EPDR1	NM_017549.4		1,89,5640	AA,AC,CC		1.087,0.2092,0.7941		132/345	37960577	91,11369	1912	3818	5730	SO:0001819	synonymous_variant	54749	exon1			CCCGGGCGCCCTG	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.36C>A	7.37:g.37960577C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	37	25	NM_001242946	0	0	4	13	9	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																			C|0.995;A|0.005		0.786	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		A	37960577	C	A	37960577	2	1	7	1	0	0	0	0	0	0	0	1	5179	755	27	2		2	EPDR1	7	37960577	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	10677683	37960577	121178086	42	1311											
AUTS2	26053	broad.mit.edu	37	chr7	70229821	70229821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctccccgttcccccTctccctgcccaaccacagcc	4	25	2	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:70229821T>C	ENST00000342771.4	+	8	1619	c.1298T>C	c.(1297-1299)cTc>cCc	p.L433P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L433P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	433										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ccgttccccctctccctgccc	0.627																																					p.L433P		.											.	AUTS2-92	0			c.T1298C						.						58	51	53					7																	70229821		2193	4282	6475	SO:0001583	missense	26053	exon8			TCCCCCTCTCCCT	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1298T>C	7.37:g.70229821T>C	ENSP00000344087:p.Leu433Pro	Somatic	55	10		WXS	Illumina GAIIx	Phase_I	62	11	NM_001127231	0	0	4	4	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663355	0.47572	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.38240	1.16;1.15	5.21	5.21	0.72293	.	0.213241	0.39210	N	0.001434	T	0.54319	0.1851	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52313	-0.8592	9	.	.	.	-24.2732	14.2863	0.66247	0.0:0.0:0.0:1.0	.	433;433	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	433	ENSP00000385263:L433P;ENSP00000344087:L433P	.	L	+	2	0	AUTS2	69867757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.143000	0.77348	1.981000	0.57761	0.533000	0.62120	CTC	.		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			C	70229821	T	C	70229821	3	2	7	1	0	0	0	0	1	0	0	0	1226	1551	54	4	1473	4	AUTS2	7	70229821	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	32269244	70229821	88908842	43	1312											
CYP3A43	64816	broad.mit.edu;bcgsc.ca	37	chr7	99441808	99441808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggtcatcatggatccCgacatgatcaaaacagtgtt	9	9	3	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:99441808C>T	ENST00000354829.2	+	4	364	c.261C>T	c.(259-261)ccC>ccT	p.P87P	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.P87P|CYP3A43_ENST00000222382.5_Silent_p.P87P|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000342499.4_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	87			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCATGGATCCCGACATGATCA	0.428																																					p.P87P		.											.	CYP3A43-92	0			c.C261T						.						100	89	93					7																	99441808		2203	4300	6503	SO:0001819	synonymous_variant	64816	exon4			GGATCCCGACATG	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.261C>T	7.37:g.99441808C>T		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	165	7	NM_057096	0	0	0	0	0	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	CCDS5676.1																																																																																			.		0.428	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			T	99441808	C	T	99441808	2	4	7	1	0	0	0	0	0	0	0	1	4188	639	23	1		1	CYP3A43	7	99441808	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	29211987	99441808	59696855	44	1313											
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	154862761	154862761	+	Frame_Shift_Del	DEL	T	T	-													caccttgctgggctttctggTggcggcgacgttcgcctgga							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:154862761delT	ENST00000287907.2	+	1	728	c.152delT	c.(151-153)gtgfs	p.V51fs	HTR5A-AS1_ENST00000395731.2_Frame_Shift_Del_p.T85fs|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Frame_Shift_Del_p.T85fs	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	51					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)	GGCTTTCTGGTGGCGGCGACG	0.642																																					p.V51fs		.											.	HTR5A-155	0			c.152delT						.						93	75	81					7																	154862761		2203	4300	6503	SO:0001589	frameshift_variant	3361	exon1			TTCTGGTGGCGGC		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.152delT	7.37:g.154862761delT	ENSP00000287907:p.Val51fs	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	66	19	NM_024012	0	0	0	0	0	Q2M2D2	Frame_Shift_Del	DEL	ENST00000287907.2	37	CCDS5936.1																																																																																			.		0.642	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		-	154862761	T	-	154862761	7	5	7	1	0	1	0	1	0	0	0	0	7477	1696	59	0	154	0	HTR5A	7	154862761	Frame_Shift_Del	DEL	T	TCGA-OR-A5J7-01A-11D-A29I-10	55420953	154862761	4275902	45	1314											
PKHD1L1	93035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110520019	110520019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcaagcagaatatgaatggGacggaaacagccaagtagga	12	7	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr8:110520019G>T	ENST00000378402.5	+	69	11226	c.11122G>T	c.(11122-11124)Gac>Tac	p.D3708Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3708					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)			ATATGAATGGGACGGAAACAG	0.438										HNSCC(38;0.096)																											p.D3708Y		.											.	PKHD1L1-145	0			c.G11122T						.						127	120	122					8																	110520019		1883	4118	6001	SO:0001583	missense	93035	exon69			GAATGGGACGGAA	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.11122G>T	8.37:g.110520019G>T	ENSP00000367655:p.Asp3708Tyr	Somatic	257	1		WXS	Illumina GAIIx	Phase_I	189	73	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791209	0.50102	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87887	-2.31;-2.15	5.4	0.365	0.16131	.	0.513255	0.20289	N	0.095282	D	0.85097	0.5619	M	0.68593	2.085	0.34432	D	0.698623	P	0.42078	0.77	B	0.43536	0.423	D	0.85003	0.0901	10	0.72032	D	0.01	.	8.9227	0.35621	0.5418:0.0:0.4582:0.0	.	3708	Q86WI1	PKHL1_HUMAN	Y	3708;636	ENSP00000367655:D3708Y;ENSP00000437376:D636Y	ENSP00000367655:D3708Y	D	+	1	0	PKHD1L1	110589195	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	1.025000	0.30090	-0.099000	0.12263	-0.793000	0.03317	GAC	.		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110520019	G	T	110520019	3	4	7	1	0	0	0	0	1	0	0	0	12011	1174	41	3	11396	3	PKHD1L1	8	110520019	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		110520019	35844003	46	1315											
MURC	347273	broad.mit.edu;bcgsc.ca	37	chr9	103340763	103340763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagaagcaacaaattcAtgttaaaaaagttgaagtca	10	4	2	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:103340763A>T	ENST00000307584.5	+	1	403	c.338A>T	c.(337-339)cAt>cTt	p.H113L	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	113					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAACAAATTCATGTTAAAAAA	0.378																																					p.H113L		.											.	MURC-69	0			c.A338T						.						50	52	51					9																	103340763		2203	4300	6503	SO:0001583	missense	347273	exon1			AAATTCATGTTAA	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.338A>T	9.37:g.103340763A>T	ENSP00000418668:p.His113Leu	Somatic	102	2		WXS	Illumina GAIIx	Phase_I	172	61	NM_001018116	0	0	0	0	0	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	A	9.124	1.009823	0.19277	.	.	ENSG00000170681	ENST00000307584	T	0.58506	0.33	5.09	3.96	0.45880	.	0.302333	0.36815	N	0.002390	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B	0.34015	0.435	B	0.25140	0.058	T	0.22661	-1.0210	10	0.72032	D	0.01	-12.2696	8.4566	0.32903	0.9048:0.0:0.0952:0.0	.	113	Q5BKX8	MURC_HUMAN	L	113	ENSP00000418668:H113L	ENSP00000418668:H113L	H	+	2	0	MURC	102380584	0.408000	0.25360	0.037000	0.18230	0.903000	0.53119	2.894000	0.48640	0.911000	0.36747	0.533000	0.62120	CAT	.		0.378	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		T	103340763	A	T	103340763	3	4	7	1	0	0	0	0	1	0	0	0	10025	217	8	5	340	5	MURC	9	103340763	Missense_Mutation	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10		103340763	37872668	47	1316											
COL27A1	85301	bcgsc.ca	37	chr9	116930100	116930100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctcccacgggcaccGtcattcctgccgccttgggc	11	18	1	0	rs2567707	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:116930100G>A	ENST00000356083.3	+	3	656	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	89	Laminin G-like.		V -> I (in dbSNP:rs2567707).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACGGGCACCGTCATTCCTGC	0.662													G|||	678	0.135383	0.1634	0.1427	5008	,	,		16185	0.001		0.2704	False		,,,				2504	0.092				p.V89I		.											.	COL27A1-94	0			c.G265A						.	G	ILE/VAL	732,3674	296.4+/-284.2	61,610,1532	56	62	60		265	0.9	0	9	dbSNP_100	60	2199,6401	364.2+/-333.4	272,1655,2373	yes	missense	COL27A1	NM_032888.2	29	333,2265,3905	AA,AG,GG		25.5698,16.6137,22.5358	benign	89/1861	116930100	2931,10075	2203	4300	6503	SO:0001583	missense	85301	exon3			GGCACCGTCATTC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.265G>A	9.37:g.116930100G>A	ENSP00000348385:p.Val89Ile	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	88	5	NM_032888	0	0	0	0	0	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	332	0.152014652014652	82	0.16666666666666666	61	0.1685082872928177	1	0.0017482517482517483	188	0.24802110817941952	G	1.272	-0.612896	0.03690	0.166137	0.255698	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02140	4.43;4.43	5.32	0.882	0.19172	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.20610	0.595	0.80722	P	0.0	B	0.22211	0.066	B	0.11329	0.006	T	0.44143	-0.9347	8	0.20046	T	0.44	.	8.2128	0.31494	0.4585:0.0:0.5415:0.0	rs2567707;rs17801084;rs52825865;rs57459248;rs2567707	89	Q8IZC6	CORA1_HUMAN	I	89;89;36;36	ENSP00000348385:V89I;ENSP00000391328:V36I	ENSP00000348385:V89I	V	+	1	0	COL27A1	115969921	0.001000	0.12720	0.011000	0.14972	0.085000	0.17905	-0.062000	0.11674	0.249000	0.21456	-0.439000	0.05793	GTC	G|0.811;A|0.189		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116930100	G	A	116930100	3	1	7	1	0	0	0	0	1	0	0	0	3692	1145	40	1	275	1	COL27A1	9	116930100	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	13589337	116930100	24283331	48	1317											
TNC	3371	broad.mit.edu	37	chr9	117853265	117853265	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggcaaggaaagcaagaaaGacacctgccaacagctgagt	12	9	0	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:117853265G>T	ENST00000350763.4	-	2	444	c.33C>A	c.(31-33)gtC>gtA	p.V11V	TNC_ENST00000346706.3_Silent_p.V11V|TNC_ENST00000423613.2_Silent_p.V11V|TNC_ENST00000542877.1_Silent_p.V11V|TNC_ENST00000535648.1_Silent_p.V11V|TNC_ENST00000537320.1_Silent_p.V11V|TNC_ENST00000345230.3_Silent_p.V11V|TNC_ENST00000341037.4_Silent_p.V11V|TNC_ENST00000340094.3_Silent_p.V11V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	11					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						AAGCAAGAAAGACACCTGCCA	0.582																																					p.V11V		.											.	TNC-517	0			c.C33A						.						40	40	40					9																	117853265		2203	4300	6503	SO:0001819	synonymous_variant	3371	exon2			AAGAAAGACACCT		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.33C>A	9.37:g.117853265G>T		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_002160	0	0	1	1	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																			.		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117853265	G	T	117853265	2	4	7	1	0	0	0	0	0	0	0	1	16317	929	33	3		3	TNC	9	117853265	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	923165	117853265	23360166	49	1318											
ITIH5	80760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	7618777	7618777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcacatctgtcttcaggatGatgaatttcttactgttgct	9	8	4	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:7618777G>C	ENST00000256861.6	-	10	1695	c.1617C>G	c.(1615-1617)atC>atG	p.I539M	ITIH5_ENST00000446830.2_Missense_Mutation_p.I321M|ITIH5_ENST00000397145.2_Missense_Mutation_p.I539M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.I539M|ITIH5_ENST00000298441.6_Missense_Mutation_p.I325M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	539					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGGATGATGAATTTCT	0.572																																					p.I539M		.											.	ITIH5-92	0			c.C1617G						.						78	73	75					10																	7618777		2203	4300	6503	SO:0001583	missense	80760	exon10			CAGGATGATGAAT			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.1617C>G	10.37:g.7618777G>C	ENSP00000256861:p.Ile539Met	Somatic	194	1		WXS	Illumina GAIIx	Phase_I	205	23	NM_001001851	0	0	4	4	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.171560	0.38315	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.41	-1.49	0.08718	.	0.426302	0.27554	N	0.018860	T	0.15609	0.0376	.	.	.	0.09310	N	0.999998	B;P;P	0.52463	0.41;0.921;0.953	B;P;P	0.53360	0.149;0.534;0.724	T	0.10776	-1.0615	9	0.72032	D	0.01	-23.1454	1.4329	0.02337	0.1931:0.2108:0.3804:0.2156	.	539;539;325	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	539;539;325;321;539	ENSP00000256861:I539M;ENSP00000380333:I539M;ENSP00000298441:I325M;ENSP00000387969:I321M;ENSP00000380332:I539M	ENSP00000256861:I539M	I	-	3	3	ITIH5	7658783	0.166000	0.22962	0.002000	0.10522	0.538000	0.34931	0.506000	0.22658	-0.002000	0.14469	0.462000	0.41574	ATC	.		0.572	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7618777	G	C	7618777	3	2	7	1	0	0	0	0	1	0	0	0	7934	1280	45	3	1354	3	ITIH5	10	7618777	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		7618777	127915970	50	1319											
HNRNPF	3185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	43882457	43882457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacggcaggcccctcatGtggacacagtggcctgtggt	14	11	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:43882457G>C	ENST00000544000.1	-	4	1283	c.876C>G	c.(874-876)caC>caG	p.H292Q	HNRNPF_ENST00000443950.2_Missense_Mutation_p.H292Q|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.H292Q|HNRNPF_ENST00000357065.4_Missense_Mutation_p.H292Q|HNRNPF_ENST00000337970.3_Missense_Mutation_p.H292Q	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	292	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						GGCCCCTCATGTGGACACAGT	0.527																																					p.H292Q		.											.	HNRNPF-22	0			c.C876G						.						53	45	48					10																	43882457		2203	4300	6503	SO:0001583	missense	3185	exon4			CCTCATGTGGACA		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.876C>G	10.37:g.43882457G>C	ENSP00000438061:p.His292Gln	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	83	17	NM_001098204	0	1	118	150	31	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342136	0.24339	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	4.38	3.49	0.39957	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	M	0.73372	2.23	0.80722	D	1	P	0.39443	0.674	P	0.54210	0.745	T	0.00655	-1.1624	10	0.51188	T	0.08	-37.0318	10.9943	0.47567	0.0923:0.0:0.9077:0.0	.	292	P52597	HNRPF_HUMAN	Q	292;292;292;292;292;215	ENSP00000438061:H292Q;ENSP00000400433:H292Q;ENSP00000348345:H292Q;ENSP00000349573:H292Q;ENSP00000338477:H292Q	ENSP00000338477:H292Q	H	-	3	2	HNRNPF	43202463	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	3.529000	0.53532	1.455000	0.47813	-0.126000	0.14955	CAC	.		0.527	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			C	43882457	G	C	43882457	3	2	7	1	0	0	0	0	1	0	0	0	7292	1368	48	3	375	3	HNRNPF	10	43882457	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	36263680	43882457	91652290	51	1320											
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96163039	96163039	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgactcgggggacagcccCgccagcagctgcagcagtag	15	14	0	0	rs2477534	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2	3	3		669	-2	0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	35	18	NM_015188	0	0	0	1	1	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96163039	C	G	96163039	2	3	7	1	0	0	0	0	0	0	0	1	15648	639	23	2		2	TBC1D12	10	96163039	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	52280582	96163039	39371708	52	1321											
SFXN4	119559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120923681	120923681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggatctaataattctgTccattgaagaaatcgtcgaa	8	6	2	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:120923681T>A	ENST00000355697.2	-	2	158	c.139A>T	c.(139-141)Aca>Tca	p.T47S	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.T47S	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	47					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AATAATTCTGTCCATTGAAGA	0.328																																					p.T47S		.											.	SFXN4-91	0			c.A139T						.						83	92	89					10																	120923681		2203	4300	6503	SO:0001583	missense	119559	exon2			ATTCTGTCCATTG		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.139A>T	10.37:g.120923681T>A	ENSP00000347924:p.Thr47Ser	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	358	108	NM_213649	0	0	33	54	21	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	5.153	0.213818	0.09810	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.28069	1.63;1.63	4.29	1.88	0.25563	.	0.603999	0.16470	N	0.213023	T	0.18215	0.0437	L	0.34521	1.04	0.19300	N	0.999978	B	0.17465	0.022	B	0.16722	0.016	T	0.09443	-1.0674	10	0.24483	T	0.36	-3.0776	4.3627	0.11210	0.1997:0.0:0.2075:0.5927	.	47	Q6P4A7	SFXN4_HUMAN	S	47	ENSP00000347924:T47S;ENSP00000333200:T47S	ENSP00000333200:T47S	T	-	1	0	SFXN4	120913671	0.987000	0.35691	0.976000	0.42696	0.552000	0.35366	0.146000	0.16180	1.817000	0.53016	0.369000	0.22263	ACA	.		0.328	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		A	120923681	T	A	120923681	3	1	7	1	0	0	0	0	1	0	0	0	14242	1667	58	5	926	5	SFXN4	10	120923681	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	24760642	120923681	14611066	53	1322											
PRDX3	10935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120931958	120931958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaatctgcttagttaagtCtgacaagagtgcgatgttca	11	6	3	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:120931958C>G	ENST00000298510.2	-	5	529	c.487G>C	c.(487-489)Gac>Cac	p.D163H	PRDX3_ENST00000356951.3_Missense_Mutation_p.D145H|PRDX3_ENST00000494433.1_5'Flank	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	163	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TTAGTTAAGTCTGACAAGAGT	0.413																																					p.D163H	Pancreas(36;562 1096 2447 42526)	.											.	PRDX3-90	0			c.G487C						.						205	178	187					10																	120931958		2203	4300	6503	SO:0001583	missense	10935	exon5			TTAAGTCTGACAA	D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"antioxidant protein 1"	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.487G>C	10.37:g.120931958C>G	ENSP00000298510:p.Asp163His	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	198	64	NM_006793	0	0	824	1294	470	B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	ENST00000298510.2	37	CCDS7611.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848198	0.91277	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.63913	-0.07;-0.07	5.01	5.01	0.66863	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94988	0.8132	10	0.87932	D	0	-29.4608	18.711	0.91656	0.0:1.0:0.0:0.0	.	163	P30048	PRDX3_HUMAN	H	145;163	ENSP00000349432:D145H;ENSP00000298510:D163H	ENSP00000298510:D163H	D	-	1	0	PRDX3	120921948	1.000000	0.71417	0.985000	0.45067	0.946000	0.59487	7.760000	0.85248	2.481000	0.83766	0.561000	0.74099	GAC	.		0.413	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050639.1	NM_006793		G	120931958	C	G	120931958	3	3	7	1	0	0	0	0	1	0	0	0	12508	913	32	3	295	3	PRDX3	10	120931958	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	8277	120931958	14602789	54	1323											
MUC5B	727897	broad.mit.edu	37	chr11	1270602	1270602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgcggccggaggggcCgtctgtgagcagcccctggg	18	13	1	1	rs546569767		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:1270602C>A	ENST00000529681.1	+	31	12550	c.12492C>A	c.(12490-12492)gcC>gcA	p.A4164A	MUC5B_ENST00000447027.1_Silent_p.A4167A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4164	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)		CCGGAGGGGCCGTCTGTGAGC	0.677																																					p.A4164A		.											.	.	0			c.C12492A						.						13	18	17					11																	1270602		1336	3333	4669	SO:0001819	synonymous_variant	727897	exon31			AGGGGCCGTCTGT	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.12492C>A	11.37:g.1270602C>A		Somatic	271	0		WXS	Illumina GAIIx	Phase_I	396	7	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.750;A|0.250		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1270602	C	A	1270602	2	1	7	1	0	0	0	0	0	0	0	1	10017	639	23	2		2	MUC5B	11	1270602	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		1270602	133735914	55	1324											
TRIM6	117854	bcgsc.ca	37	chr11	5624521	5624521	+	5'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcagggttgggcaggcAggagccaggagagtagctac	17	7	1	1	rs61758095	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:5624521A>C	ENST00000278302.5	+	0	119				TRIM6-TRIM34_ENST00000354852.5_Silent_p.A21A|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000380097.3_Silent_p.A21A|TRIM6_ENST00000380107.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGGGCAGGCAGGAGCCAGGA	0.483													A|||	60	0.0119808	0.0144	0.0202	5008	,	,		19923	0		0.0239	False		,,,				2504	0.0031				p.A21A		.											.	TRIM6-TRIM34-45	0			c.A63C						.	A	,,,,	50,4352	51.6+/-87.1	1,48,2152	106	81	90		63,63,,,	-3.3	0	11	dbSNP_129	90	186,8408	83.1+/-145.7	2,182,4113	no	coding-synonymous,coding-synonymous,intron,intron,utr-5	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	,,,,	3,230,6265	CC,CA,AA		2.1643,1.1358,1.8159	,,,,	21/517,21/843,,,	5624521	236,12760	2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372	exon2			GCAGGCAGGAGCC	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-22A>C	11.37:g.5624521A>C		Somatic	379	3		WXS	Illumina GAIIx	Phase_I	193	8	NM_001003819	0	0	2	2	0	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																			A|0.982;C|0.018		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		C	5624521	A	C	5624521	1	2	7	0	1	0	0	0	0	0	0	0	16581	175	7	5		5	TRIM6	11	5624521	5'UTR	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	4353919	5624521	129381995	56	1325											
OR56A5	0	bcgsc.ca	37	chr11	5989416	5989416	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactgttcatgatgaacacCtgaaggaagcaggcagggaa	12	7	1	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:5989416C>A								OR56A3 (19825 upstream) : OR52L1 (17705 downstream)																							TGATGAACACCTGAAGGAAGC	0.517																																					p.Q103H		.											.	.	0			c.G309T						.						70	65	67					11																	5989416		692	1591	2283	SO:0001628	intergenic_variant	390084	exon1			GAACACCTGAAGG																													11.37:g.5989416C>A		Somatic	233	0		WXS	Illumina GAIIx	Phase_I	122	6	NM_001146033	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.517									A	5989416	C	A	5989416	1	1	7	0	1	0	0	0	0	0	0	0	11175	680	24	3		3	OR56A5	11	5989416	IGR	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	364895	5989416	129017100	57	1326											
OR56A1	120796	broad.mit.edu;bcgsc.ca	37	chr11	6048372	6048372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggacacagacaagTtggcacagatgcagttctca	11	10	1	3	rs139926831		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:6048372T>G	ENST00000316650.5	-	1	599	c.563A>C	c.(562-564)aAc>aCc	p.N188T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGACAAGTTGGCACAGAT	0.473																																					p.N188T		.											.	OR56A1-115	0			c.A563C						.	T	THR/ASN	0,4402		0,0,2201	87	84	85		563	4.3	1	11	dbSNP_134	85	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR56A1	NM_001001917.2	65	0,2,6495	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	188/319	6048372	2,12992	2201	4296	6497	SO:0001583	missense	120796	exon1			GACAAGTTGGCAC	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.563A>C	11.37:g.6048372T>G	ENSP00000321246:p.Asn188Thr	Somatic	186	2		WXS	Illumina GAIIx	Phase_I	105	5	NM_001001917	0	0	0	0	0	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681883	0.47991	0.0	2.33E-4	ENSG00000180934	ENST00000316650	T	0.36699	1.24	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.62245	0.2412	M	0.86740	2.835	0.32709	N	0.511876	D	0.71674	0.998	D	0.75020	0.985	T	0.75566	-0.3273	10	0.87932	D	0	.	11.658	0.51330	0.0:0.0:0.0:1.0	.	188	Q8NGH5	O56A1_HUMAN	T	188	ENSP00000321246:N188T	ENSP00000321246:N188T	N	-	2	0	OR56A1	6004948	0.251000	0.23961	1.000000	0.80357	0.282000	0.26991	3.266000	0.51569	1.914000	0.55421	0.533000	0.62120	AAC	T|1.000;G|0.000		0.473	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		G	6048372	T	G	6048372	3	3	7	1	0	0	0	0	1	0	0	0	11172	1725	60	5	397	5	OR56A1	11	6048372	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	58956	6048372	128958144	58	1327											
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	32635661	32635661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttaggtttcaccaacaTagacatactatggacatttt	7	7	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:32635661T>G	ENST00000335185.5	-	16	2246	c.2203A>C	c.(2203-2205)Atg>Ctg	p.M735L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	735										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCACCAACATAGACATACTA	0.343																																					p.L735L		.											.	CCDC73-91	0			c.C2203C						.						100	91	94					11																	32635661		1807	4073	5880	SO:0001583	missense	493860	exon16			CCAACATAGACAT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2203A>C	11.37:g.32635661T>G	ENSP00000335325:p.Met735Leu	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	51	17	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.520771	0.00967	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.12	-5.06	0.02946	.	0.933208	0.09034	N	0.858360	T	0.26304	0.0642	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	9	0.32370	T	0.25	.	4.7878	0.13234	0.1103:0.4632:0.2254:0.201	.	735	Q6ZRK6	CCD73_HUMAN	L	735	.	ENSP00000335325:M735L	M	-	1	0	CCDC73	32592237	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.220000	0.02971	-0.916000	0.03818	-0.438000	0.05819	ATG	.		0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		G	32635661	T	G	32635661	3	3	7	1	0	0	0	0	1	0	0	0	2853	1406	49	5	1048	5	CCDC73	11	32635661	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	26587289	32635661	102370855	59	1328											
NR1H3	10062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	47282859	47282859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaacaggctcatgcCacatccttgccccccagggc	12	15	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:47282859C>T	ENST00000467728.1	+	4	1805	c.567C>T	c.(565-567)gcC>gcT	p.A189A	NR1H3_ENST00000407404.1_Silent_p.A189A|NR1H3_ENST00000405853.3_Silent_p.A189A|NR1H3_ENST00000395397.3_Silent_p.A144A|NR1H3_ENST00000481889.2_Silent_p.A144A|NR1H3_ENST00000405576.1_Silent_p.A144A|NR1H3_ENST00000441012.2_Silent_p.A189A|NR1H3_ENST00000527949.1_Silent_p.A98A|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	189					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGCTCATGCCACATCCTTGC	0.587																																					p.A195A		.											.	NR1H3-228	0			c.C585T						.						65	62	63					11																	47282859		2201	4298	6499	SO:0001819	synonymous_variant	10062	exon5			TCATGCCACATCC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.567C>T	11.37:g.47282859C>T		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	204	128	NM_001251934	0	0	6	10	4	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	CCDS7929.1																																																																																			.		0.587	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			T	47282859	C	T	47282859	2	4	7	1	0	0	0	0	0	0	0	1	10657	581	21	3		3	NR1H3	11	47282859	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	14647198	47282859	87723657	60	1329											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	7	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	18496731	65779590	69226926	61	1330											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	7	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	30619	65810209	69196307	62	1331											
OR8B3	390271	ucsc.edu	37	chr11	124267177	124267177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaaaagaggggttgcTggaactctggatgatctgtt	14	5	2	2	rs507360	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:124267177T>C	ENST00000354597.3	-	1	87	c.71A>G	c.(70-72)cAg>cGg	p.Q24R		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	24				Q -> R (in Ref. 1; BAC06046). {ECO:0000305}.		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)		GAGGGGTTGCTGGAACTCTGG	0.408													C|||	4291	0.856829	0.8797	0.7983	5008	,	,		11539	0.8581		0.83	False		,,,				2504	0.8937				p.Q24R		.											.	OR8B3-70	0			c.A71G						.	C	ARG/GLN	3129,893		1486,157,368	26	40	35		71	2.5	0.3	11	dbSNP_129	35	6339,2147		2901,537,805	no	missense	OR8B3	NM_001005467.1	43	4387,694,1173	CC,CT,TT		25.3005,22.2029,24.3044	benign	24/314	124267177	9468,3040	2011	4243	6254	SO:0001583	missense	390271	exon1			GGTTGCTGGAACT	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.71A>G	11.37:g.124267177T>C	ENSP00000346611:p.Gln24Arg	Somatic	181	6		WXS	Illumina GAIIx	Phase_I	159	35	NM_001005467	0	0	0	0	0	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	1773	0.8118131868131868	414	0.8414634146341463	294	0.8121546961325967	478	0.8356643356643356	587	0.7744063324538258	N	5.549	0.286093	0.10513	0.777971	0.746995	ENSG00000196661	ENST00000354597	T	0.00594	6.33	3.64	2.52	0.30459	.	0.233085	0.30686	N	0.009087	T	0.00012	0.0000	L	0.55743	1.74	0.46725	P	8.219999999999894E-4	B	0.31752	0.338	B	0.33620	0.167	T	0.01914	-1.1248	9	0.54805	T	0.06	.	9.4715	0.38844	0.0:0.0885:0.0:0.9115	rs61910862	24	Q8NGG8	OR8B3_HUMAN	R	24	ENSP00000346611:Q24R	ENSP00000346611:Q24R	Q	-	2	0	OR8B3	123772387	0.082000	0.21442	0.336000	0.25522	0.002000	0.02628	2.013000	0.40942	0.745000	0.32763	-0.303000	0.09236	CAG	T|0.188;C|0.812		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		C	124267177	T	C	124267177	3	2	7	1	0	0	0	0	1	0	0	0	11267	1580	55	4	872	4	OR8B3	11	124267177	Missense_Mutation	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	58456968	124267177	10739339	63	1332											
LRTM2	654429	broad.mit.edu	37	chr12	1940199	1940199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaggtggactgcagtGgccttggcctcaccacggtg	16	12	1	0	rs140244300	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:1940199G>A	ENST00000543818.1	+	4	1008	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G56S|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.G56S|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_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	56	LRRNT.					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)			GGACTGCAGTGGCCTTGGCCT	0.637																																					p.G56S		.											.	LRTM2-135	0			c.G166A						.	G	SER/GLY,SER/GLY,SER/GLY,	3,4403	4.2+/-10.8	0,3,2200	77	73	74		166,166,166,	5	1	12	dbSNP_134	74	12,8588	9.1+/-34.3	0,12,4288	no	missense,missense,missense,intron	CACNA2D4,LRTM2	NM_001039029.2,NM_001163925.1,NM_001163926.1,NM_172364.4	56,56,56,	0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153	probably-damaging,probably-damaging,probably-damaging,	56/371,56/371,56/371,	1940199	15,12991	2203	4300	6503	SO:0001583	missense	654429	exon4			TGCAGTGGCCTTG	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.166G>A	12.37:g.1940199G>A	ENSP00000446278:p.Gly56Ser	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	79	3	NM_001039029	0	0	0	0	0	A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092374	0.94149	6.81E-4	0.001395	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.04	5.04	0.67666	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	N	0.25245	0.725	0.80722	D	1	P	0.50066	0.931	P	0.52454	0.699	D	0.92764	0.6226	10	0.13853	T	0.58	.	18.3994	0.90511	0.0:0.0:1.0:0.0	.	56	Q8N967	LRTM2_HUMAN	S	56	ENSP00000446278:G56S;ENSP00000299194:G56S;ENSP00000444737:G56S;ENSP00000438678:G56S;ENSP00000444104:G56S	ENSP00000299194:G56S	G	+	1	0	LRTM2	1810460	1.000000	0.71417	0.997000	0.53966	0.713000	0.41058	7.775000	0.85489	2.345000	0.79718	0.561000	0.74099	GGC	G|0.999;A|0.001		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			A	1940199	G	A	1940199	3	1	7	1	0	0	0	0	1	0	0	0	9080	1348	47	3	172	3	LRTM2	12	1940199	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		1940199	131911696	64	1333											
PAN2	10330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56712211	56712211	+	5'Flank	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgggtttccccttgaatCttcaggtctggggtaagtaa	11	8	4	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:56712211C>A	ENST00000273308.4	-	0	0				PAN2_ENST00000257931.5_Missense_Mutation_p.K1127N|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000425394.2_Missense_Mutation_p.K1128N|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.K1128N|PAN2_ENST00000440411.3_Missense_Mutation_p.K1124N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CCCCTTGAATCTTCAGGTCTG	0.493																																					p.K1128N		.											.	PAN2-702	0			c.G3384T						.						78	74	75					12																	56712211		2203	4300	6503	SO:0001631	upstream_gene_variant	9924	exon25			TTGAATCTTCAGG	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712211C>A	Exception_encountered	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	371	59	NM_001127460	0	0	2	2	0	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352266	0.41700	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.44	3.63	0.41609	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.048467	0.85682	D	0.000000	T	0.28962	0.0719	N	0.25332	0.735	0.42975	D	0.994441	B;B;B	0.14012	0.003;0.003;0.009	B;B;B	0.17979	0.011;0.005;0.02	T	0.05517	-1.0880	10	0.27785	T	0.31	-23.6287	11.0818	0.48064	0.0:0.8474:0.0:0.1526	.	1127;1124;1128	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	1128;1124;1127;1128	ENSP00000401721:K1128N;ENSP00000388231:K1124N;ENSP00000257931:K1127N;ENSP00000449861:K1128N	ENSP00000257931:K1127N	K	-	3	2	PAN2	54998478	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.367000	0.52350	0.795000	0.33922	-0.253000	0.11424	AAG	.		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		A	56712211	C	A	56712211	1	1	7	0	1	0	0	0	0	0	0	0	11453	912	32	3		3	PAN2	12	56712211	5'Flank	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	54772012	56712211	77139684	65	1334											
GAS2L3	283431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	101017613	101017613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttagtattccaaaaagcaaaGaaaaacagggacgtccacca	7	9	0	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:101017613G>C	ENST00000539410.1	+	9	1416	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	GAS2L3_ENST00000266754.5_Missense_Mutation_p.E344Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E344Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.E240Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	344					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAAAAGCAAAGAAAAACAGGG	0.438																																					p.E344Q		.											.	GAS2L3-227	0			c.G1030C						.						72	69	70					12																	101017613		2203	4300	6503	SO:0001583	missense	283431	exon10			AGCAAAGAAAAAC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1030G>C	12.37:g.101017613G>C	ENSP00000439672:p.Glu344Gln	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	154	45	NM_174942	0	0	6	9	3	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154562	0.57259	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.25250	1.85;1.85;1.81;1.85	5.71	5.71	0.89125	.	0.343384	0.28262	N	0.015983	T	0.25606	0.0623	M	0.61703	1.905	0.09310	N	1	P	0.49961	0.93	B	0.42319	0.383	T	0.32025	-0.9922	10	0.25751	T	0.34	-18.5722	9.0455	0.36345	0.0735:0.0:0.7788:0.1478	.	344	Q86XJ1	GA2L3_HUMAN	Q	344;344;240;344	ENSP00000266754:E344Q;ENSP00000448955:E344Q;ENSP00000442406:E240Q;ENSP00000439672:E344Q	ENSP00000266754:E344Q	E	+	1	0	GAS2L3	99541744	1.000000	0.71417	0.093000	0.20910	0.095000	0.18619	3.253000	0.51469	2.697000	0.92050	0.655000	0.94253	GAA	.		0.438	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		C	101017613	G	C	101017613	3	2	7	1	0	0	0	0	1	0	0	0	6273	943	33	3	1060	3	GAS2L3	12	101017613	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	44305402	101017613	32834282	66	1335											
WBP4	11193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	41642838	41642838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaaggcataacctctgAgggttaccattactattatg	10	7	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:41642838A>C	ENST00000379487.3	+	5	804	c.404A>C	c.(403-405)gAg>gCg	p.E135A	WBP4_ENST00000542082.1_Missense_Mutation_p.E114A	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	135	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)		ATAACCTCTGAGGGTTACCAT	0.353																																					p.E135A		.											.	WBP4-289	0			c.A404C						.						105	101	102					13																	41642838		2203	4300	6503	SO:0001583	missense	11193	exon5			CCTCTGAGGGTTA	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.404A>C	13.37:g.41642838A>C	ENSP00000368801:p.Glu135Ala	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	16	11	NM_007187	0	0	1	3	2	B7Z4M2|Q32P29	Missense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146143	0.77888	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	D;D	0.82711	-1.64;-1.64	5.41	5.41	0.78517	WW/Rsp5/WWP (6);	0.353175	0.31949	N	0.006810	D	0.82697	0.5093	L	0.41492	1.28	0.42635	D	0.99339	P;D	0.54601	0.856;0.967	P;P	0.51016	0.652;0.656	D	0.84823	0.0797	10	0.62326	D	0.03	-3.2715	14.2679	0.66133	1.0:0.0:0.0:0.0	.	114;135	B7Z4M2;O75554	.;WBP4_HUMAN	A	135;114	ENSP00000368801:E135A;ENSP00000439301:E114A	ENSP00000368801:E135A	E	+	2	0	WBP4	40540838	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.665000	0.74442	2.044000	0.60594	0.459000	0.35465	GAG	.		0.353	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		C	41642838	A	C	41642838	3	2	7	1	0	0	0	0	1	0	0	0	17310	304	11	5	422	5	WBP4	13	41642838	Missense_Mutation	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10		41642838	73527040	67	1336											
RCBTB1	55213	bcgsc.ca	37	chr13	50123622	50123622	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcgccacgagacggcGggagtggcaaagcaggcaaa	18	9	0	1	rs3751384	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:50123622G>C	ENST00000378302.2	-	9	1277	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	RCBTB1_ENST00000258646.3_Silent_p.P339P|RCBTB1_ENST00000546015.1_Silent_p.P339P	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		ACGAGACGGCGGGAGTGGCAA	0.597													G|||	2380	0.47524	0.2632	0.6441	5008	,	,		15536	0.5149		0.6441	False		,,,				2504	0.4274				p.P339P		.											.	RCBTB1-91	0			c.C1017G						.	G		1401,3005	458.2+/-351.9	217,967,1019	67	53	58		1017	-10.1	0.1	13	dbSNP_107	58	5809,2791	675.5+/-403.2	1987,1835,478	no	coding-synonymous	RCBTB1	NM_018191.3		2204,2802,1497	CC,CG,GG		32.4535,31.7975,44.564		339/532	50123622	7210,5796	2203	4300	6503	SO:0001819	synonymous_variant	55213	exon9			GACGGCGGGAGTG	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1017C>G	13.37:g.50123622G>C		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_018191	0	0	6	6	0	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																			G|0.473;C|0.527		0.597	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		C	50123622	G	C	50123622	2	2	7	1	0	0	0	0	0	0	0	1	13216	1103	39	2		2	RCBTB1	13	50123622	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	8480784	50123622	65046256	68	1337											
GPR183	1880	bcgsc.ca	37	chr13	99948178	99948178	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaaaagtatatcagaaatCaccaaatttgttgaatagag	7	4	2	3	rs2230342	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:99948178C>A	ENST00000376414.4	-	2	305	c.222G>T	c.(220-222)gtG>gtT	p.V74V	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	74					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TATCAGAAATCACCAAATTTG	0.418													C|||	1286	0.256789	0.2103	0.2421	5008	,	,		20245	0.1875		0.3748	False		,,,				2504	0.2802				p.V74V		.											.	GPR183-522	0			c.G222T						.	C	,,	1080,3326	391.4+/-328.1	133,814,1256	121	113	116		,222,	1.2	1	13	dbSNP_98	116	3211,5389	485.2+/-371.6	604,2003,1693	no	intron,coding-synonymous,intron	GPR183,UBAC2	NM_001144072.1,NM_004951.4,NM_177967.3	,,	737,2817,2949	AA,AC,CC		37.3372,24.512,32.9925	,,	,74/362,	99948178	4291,8715	2203	4300	6503	SO:0001819	synonymous_variant	1880	exon2			AGAAATCACCAAA	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.222G>T	13.37:g.99948178C>A		Somatic	373	1		WXS	Illumina GAIIx	Phase_I	139	7	NM_004951	0	0	0	0	0	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	CCDS9492.1																																																																																			C|0.698;A|0.302		0.418	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		A	99948178	C	A	99948178	2	1	7	1	0	0	0	0	0	0	0	1	6704	813	29	3		3	GPR183	13	99948178	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	49824556	99948178	15221700	69	1338											
GRTP1	79774	broad.mit.edu	37	chr13	113980044	113980044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttaaacttatcgcaaatgtCtggaacgctggtggcttcca	9	10	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:113980044C>A	ENST00000375431.4	-	7	927	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	GRTP1_ENST00000326039.3_Missense_Mutation_p.D207Y|GRTP1_ENST00000375430.4_Missense_Mutation_p.D285Y	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	285							Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCGCAAATGTCTGGAACGCTG	0.498																																					p.D285Y		.											.	GRTP1-90	0			c.G853T						.						109	106	107					13																	113980044		2203	4300	6503	SO:0001583	missense	79774	exon7			AAATGTCTGGAAC	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.853G>T	13.37:g.113980044C>A	ENSP00000364580:p.Asp285Tyr	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_024719	0	0	8	8	0	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137980	0.37728	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.25912	1.77;1.77;1.77	4.97	4.1	0.47936	Rab-GAP/TBC domain (1);	0.221270	0.44902	D	0.000419	T	0.48589	0.1508	M	0.77616	2.38	0.58432	D	0.999995	D;D	0.71674	0.988;0.998	P;P	0.61201	0.862;0.885	T	0.54886	-0.8226	10	0.66056	D	0.02	.	14.4235	0.67200	0.1486:0.8514:0.0:0.0	.	285;285	B9A6K2;Q5TC63	.;GRTP1_HUMAN	Y	285;207;285	ENSP00000364580:D285Y;ENSP00000321850:D207Y;ENSP00000364579:D285Y	ENSP00000321850:D207Y	D	-	1	0	GRTP1	113028045	1.000000	0.71417	0.035000	0.18076	0.033000	0.12548	7.018000	0.76406	1.044000	0.40200	0.462000	0.41574	GAC	.		0.498	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		A	113980044	C	A	113980044	3	1	7	1	0	0	0	0	1	0	0	0	6837	913	32	3	165	3	GRTP1	13	113980044	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	14031866	113980044	1189834	70	1339											
GAS6	2621	ucsc.edu;bcgsc.ca	37	chr13	114525079	114525079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgtccctcagcgagacGgtgaccacgtgctcttggcc	11	16	3	2	rs34975371	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:114525079G>A	ENST00000327773.6	-	14	1880	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	GAS6_ENST00000418959.3_Silent_p.T279T|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.T524T|GAS6_ENST00000357389.3_Silent_p.T621T|GAS6_ENST00000450766.1_Silent_p.T305T	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	621	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TCAGCGAGACGGTGACCACGT	0.682													G|||	120	0.0239617	8e-04	0.0375	5008	,	,		17576	0		0.0656	False		,,,				2504	0.0276				p.T578T		.											.	GAS6-650	0			c.C1734T						.	G	,,	34,4352		0,34,2159	46	30	35		1734,915,837	-5.6	0	13	dbSNP_126	35	410,8170		14,382,3894	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	,,	14,416,6053	AA,AG,GG		4.7786,0.7752,3.4243	,,	578/679,305/406,279/380	114525079	444,12522	2193	4290	6483	SO:0001819	synonymous_variant	2621	exon14			CGAGACGGTGACC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1734C>T	13.37:g.114525079G>A		Somatic	143	1		WXS	Illumina GAIIx	Phase_I	49	5	NM_000820	0	0	10	10	0	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	CCDS45072.1																																																																																			G|0.968;A|0.032		0.682	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		A	114525079	G	A	114525079	2	1	7	1	0	0	0	0	0	0	0	1	6274	1103	39	1		1	GAS6	13	114525079	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	545035	114525079	644799	71	1340											
TOMM20L	387990	bcgsc.ca	37	chr14	58863051	58863051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaaggctgaggagcagGgcacgcaggtgcagtgcttt	15	9	1	1	rs140260851	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr14:58863051G>A	ENST00000360945.2	+	2	214	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	RP11-517O13.3_ENST00000556390.1_RNA|RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	58					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						TGAGGAGCAGGGCACGCAGGT	0.647													G|||	14	0.00279553	0	0.0029	5008	,	,		13934	0		0.0119	False		,,,				2504	0				p.G58S		.											.	TOMM20L-90	0			c.G172A						.	G	SER/GLY	8,4398	12.9+/-30.5	0,8,2195	64	58	60		172	1.8	0	14	dbSNP_134	60	106,8494	57.2+/-118.5	0,106,4194	yes	missense	TOMM20L	NM_207377.2	56	0,114,6389	AA,AG,GG		1.2326,0.1816,0.8765	possibly-damaging	58/153	58863051	114,12892	2203	4300	6503	SO:0001583	missense	387990	exon2			GAGCAGGGCACGC		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.172G>A	14.37:g.58863051G>A	ENSP00000354204:p.Gly58Ser	Somatic	332	1		WXS	Illumina GAIIx	Phase_I	223	7	NM_207377	0	0	0	0	0	B2RPR0	Missense_Mutation	SNP	ENST00000360945.2	37	CCDS9734.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	G	15.96	2.985614	0.53934	0.001816	0.012326	ENSG00000196860	ENST00000360945	T	0.39592	1.07	3.76	1.84	0.25277	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.614486	0.13336	N	0.395523	T	0.26231	0.0640	L	0.48986	1.54	0.09310	N	1	B	0.27882	0.192	B	0.32342	0.144	T	0.24297	-1.0164	10	0.21014	T	0.42	0.3264	6.2668	0.20932	0.0:0.2071:0.5791:0.2138	.	58	Q6UXN7	TO20L_HUMAN	S	58	ENSP00000354204:G58S	ENSP00000354204:G58S	G	+	1	0	TOMM20L	57932804	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.587000	0.23909	0.245000	0.21373	-0.302000	0.09304	GGC	G|0.993;A|0.007		0.647	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		A	58863051	G	A	58863051	3	1	7	1	0	0	0	0	1	0	0	0	16402	1232	43	3	178	3	TOMM20L	14	58863051	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		58863051	48486489	72	1341											
SERPINA1	5265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	94845822	94845822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagagcttcaggggtgcCtcctctgtgaccccggagag	15	11	2	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr14:94845822C>T	ENST00000448921.1	-	6	1616	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	SERPINA1_ENST00000449399.3_Silent_p.E348E|SERPINA1_ENST00000440909.1_Silent_p.E348E|SERPINA1_ENST00000393087.4_Silent_p.E348E|SERPINA1_ENST00000355814.4_Silent_p.E348E|SERPINA1_ENST00000404814.4_Silent_p.E348E|SERPINA1_ENST00000393088.4_Silent_p.E348E|SERPINA1_ENST00000437397.1_Silent_p.E348E|SERPINA1_ENST00000402629.1_Silent_p.E348E	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	348					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCAGGGGTGCCTCCTCTGTGA	0.562																																					p.E348E		.											.	SERPINA1-226	0			c.G1044A						.						117	109	112					14																	94845822		2203	4300	6503	SO:0001819	synonymous_variant	5265	exon6			GGGTGCCTCCTCT	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1044G>A	14.37:g.94845822C>T		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	92	37	NM_001127701	0	0	2	2	0	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	CCDS9925.1																																																																																			.		0.562	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		T	94845822	C	T	94845822	2	4	7	1	0	0	0	0	0	0	0	1	14131	680	24	3		3	SERPINA1	14	94845822	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	35982771	94845822	12503718	73	1342											
MAGEL2	54551	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	23890728	23890728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctatagaagaggccctgCattctcctgatggagtcatc	11	10	3	3			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:23890728C>T	ENST00000532292.1	-	1	447	c.353G>A	c.(352-354)tGc>tAc	p.C118Y		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		AGAGGCCCTGCATTCTCCTGA	0.602																																					p.C721Y		.											.	.	0			c.G2162A						.						21	22	22					15																	23890728		1866	4102	5968	SO:0001583	missense	54551	exon1			GCCCTGCATTCTC	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.353G>A	15.37:g.23890728C>T	ENSP00000433433:p.Cys118Tyr	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	93	35	NM_019066	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	c	3.173	-0.169529	0.06461	.	.	ENSG00000254585	ENST00000532292	T	0.04156	3.69	3.75	-0.515	0.11954	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.49570	-0.8926	6	.	.	.	.	5.924	0.19099	0.1939:0.49:0.316:0.0	.	.	.	.	T	150	ENSP00000433433:A150T	.	A	-	1	0	MAGEL2	21441821	0.000000	0.05858	0.246000	0.24233	0.012000	0.07955	0.494000	0.22467	-0.078000	0.12730	-1.122000	0.02009	GCA	.		0.602	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23890728	C	T	23890728	3	4	7	1	0	0	0	0	1	0	0	0	9227	710	25	3	1591	3	MAGEL2	15	23890728	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		23890728	78640664	74	1343											
LTK	4058	hgsc.bcm.edu	37	chr15	41803754	41803754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggccgccaccagcaacGgttccagctcgccagcgcgc	11	20	0	0	rs55739813	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:41803754G>A	ENST00000263800.6	-	6	776	c.680C>T	c.(679-681)cCg>cTg	p.P227L	LTK_ENST00000453182.2_Missense_Mutation_p.P227L|LTK_ENST00000355166.5_Missense_Mutation_p.P227L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	227					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CACCAGCAACGGTTCCAGCTC	0.736										TSP Lung(18;0.14)			G|||	160	0.0319489	0.0038	0.0692	5008	,	,		8690	0.0119		0.0517	False		,,,				2504	0.044				p.P227L		.											.	LTK-1377	0			c.C680T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	29,3047		0,29,1509	5	6	6		680,680,680	2.9	1	15	dbSNP_129	6	336,6434		4,328,3053	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	98,98,98	4,357,4562	AA,AG,GG		4.9631,0.9428,3.7071	probably-damaging,probably-damaging,probably-damaging	227/735,227/865,227/804	41803754	365,9481	1538	3385	4923	SO:0001583	missense	4058	exon6			AGCAACGGTTCCA	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.680C>T	15.37:g.41803754G>A	ENSP00000263800:p.Pro227Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001135685	0	0	0	0	0	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	80	0.03663003663003663	8	0.016260162601626018	26	0.0718232044198895	7	0.012237762237762238	39	0.051451187335092345	G	17.32	3.359770	0.61403	0.009428	0.049631	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.40476	1.03;1.03;1.03	3.86	2.94	0.34122	.	.	.	.	.	T	0.09512	0.0234	M	0.62016	1.91	0.39097	D	0.961214	P;P;D	0.89917	0.658;0.606;1.0	B;B;D	0.97110	0.164;0.102;1.0	T	0.26052	-1.0114	9	0.87932	D	0	.	10.0097	0.41979	0.1032:0.0:0.8968:0.0	rs55739813	227;227;227	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	L	227	ENSP00000347293:P227L;ENSP00000263800:P227L;ENSP00000392196:P227L	ENSP00000263800:P227L	P	-	2	0	LTK	39591046	1.000000	0.71417	0.999000	0.59377	0.333000	0.28666	5.205000	0.65186	0.603000	0.29913	0.455000	0.32223	CCG	G|0.962;A|0.038		0.736	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			A	41803754	G	A	41803754	3	1	7	1	0	0	0	0	1	0	0	0	9115	1116	39	1	1974	1	LTK	15	41803754	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	17913026	41803754	60727638	75	1344											
LBXCOR1	390598	hgsc.bcm.edu	37	chr15	68120014	68120014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgcccgggaggcgtaCggcgcggggcctgctcgggg	23	12	0	0	rs62015251	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:68120014C>T	ENST00000380035.2	+	2	1906	c.1848C>T	c.(1846-1848)taC>taT	p.Y616Y	SKOR1_ENST00000341418.5_Silent_p.Y556Y|SKOR1_ENST00000389002.1_Silent_p.Y572Y|SKOR1_ENST00000554054.1_Silent_p.Y588Y|SKOR1_ENST00000554240.1_Silent_p.Y577Y			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	616					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGGAGGCGTACGGCGCGGGGC	0.716													C|||	430	0.0858626	0.0106	0.121	5008	,	,		9530	0.1101		0.1193	False		,,,				2504	0.1033				p.Y556Y		.											.	SKOR1-90	0			c.C1668T						.	C		62,3022		0,62,1480	3	4	4		1716	-1.9	0.1	15	dbSNP_129	4	460,5730		9,442,2644	no	coding-synonymous	SKOR1	NM_001031807.1		9,504,4124	TT,TC,CC		7.4313,2.0104,5.6286		572/922	68120014	522,8752	1542	3095	4637	SO:0001819	synonymous_variant	390598	exon7			GGCGTACGGCGCG		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1848C>T	15.37:g.68120014C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001258024	0	0	0	0	0	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																				C|0.908;T|0.092		0.716	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68120014	C	T	68120014	2	4	7	1	0	0	0	0	0	0	0	1	8683	547	19	1		1	LBXCOR1	15	68120014	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	26316260	68120014	34411378	76	1345											
DECR2	26063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	455024	455024	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgctgagattttcatgcGgtgagactgctctgtgtccc	12	9	2	2	rs201409624		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	DECR2_ENST00000397710.1_Splice_Site_p.R50Q|DECR2_ENST00000424398.2_Splice_Site_p.R50Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552													G|||	1	0.000199681	0	0	5008	,	,		16123	0.001		0	False		,,,				2504	0				p.R50Q		.											.	DECR2-90	0			c.G149A						.						173	159	164					16																	455024		2202	4300	6502	SO:0001630	splice_region_variant	26063	exon2			TCATGCGGTGAGA	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.149+1G>A	16.37:g.455024G>A		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	105	18	NM_020664	0	0	1	6	5	Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	CCDS10409.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.9	4.469672	0.84533	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.40476	1.03;1.03	4.45	4.45	0.53987	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.46992	-0.9151	10	0.24483	T	0.36	.	15.692	0.77461	0.0:0.0:1.0:0.0	.	50	Q9NUI1	DECR2_HUMAN	Q	50	ENSP00000219481:R50Q;ENSP00000400374:R50Q	ENSP00000219481:R50Q	R	+	2	0	DECR2	395025	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	8.426000	0.90273	2.031000	0.59945	0.655000	0.94253	CGG	G|0.999;A|0.000		0.552	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	Missense_Mutation	A	455024	G	A	455024	5	1	7	1	0	0	0	0	0	0	1	0	4392	1130	39	1	155	1	DECR2	16	455024	Splice_Site	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10		455024	89899729	77	1346											
ZNF646	9726	broad.mit.edu	37	chr16	31092943	31092943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacctgcccccattgTccccgccacttccgccgccg	6	23	1	0	rs200049061		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:31092943T>C	ENST00000394979.2	+	1	5721	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C	ZNF646_ENST00000300850.5_Silent_p.C1766C			O15015	ZN646_HUMAN	zinc finger protein 646	1766					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCCCATTGTCCCCGCCACT	0.697																																					p.C1766C		.											.	ZNF646-153	0			c.T5298C						.																																			SO:0001819	synonymous_variant	9726	exon2			CCATTGTCCCCGC	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5298T>C	16.37:g.31092943T>C		Somatic	28	4		WXS	Illumina GAIIx	Phase_I	62	25	NM_014699	0	0	5	5	0	Q8IVD8	Silent	SNP	ENST00000394979.2	37																																																																																				.		0.697	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		C	31092943	T	C	31092943	2	2	7	1	0	0	0	0	0	0	0	1	18110	1673	58	4		4	ZNF646	16	31092943	Silent	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	30637919	31092943	59261810	78	1347											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	7	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5J7-01A-11D-A29I-10	57506754	88599697	1755056	79	1348											
SPIRE2	84501	broad.mit.edu	37	chr16	89917049	89917049	+	Frame_Shift_Del	DEL	G	G	-													gctgcgggccttcctggccaGggtccgggaggccaaggagg							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:89917049delG	ENST00000378247.3	+	3	669	c.626delG	c.(625-627)aggfs	p.R209fs	SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.R209fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	209					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)		TTCCTGGCCAGGGTCCGGGAG	0.746																																					p.R209fs		.											.	SPIRE2-90	0			c.626delG						.						2	2	2					16																	89917049		1385	3125	4510	SO:0001589	frameshift_variant	84501	exon3			TGGCCAGGGTCCG	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.626delG	16.37:g.89917049delG	ENSP00000367494:p.Arg209fs	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_032451	0	0	0	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	CCDS32516.1																																																																																			.		0.746	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		-	89917049	G	-	89917049	7	5	7	1	0	1	0	1	0	0	0	0	15119	1000	35	0	636	0	SPIRE2	16	89917049	Frame_Shift_Del	DEL	G	TCGA-OR-A5J7-01A-11D-A29I-10	1317352	89917049	437704	80	1349											
SLFN5	162394	broad.mit.edu	37	chr17	33586498	33586498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtattaagaagctaccTgtccatcatttctgcacaca	7	11	2	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:33586498T>C	ENST00000299977.4	+	2	937	c.789T>C	c.(787-789)ccT>ccC	p.P263P	SLFN5_ENST00000542451.1_Silent_p.P263P|SLFN5_ENST00000592325.1_Silent_p.P263P	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	263					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGAAGCTACCTGTCCATCATT	0.433																																					p.P263P		.											.	SLFN5-92	0			c.T789C						.						134	135	134					17																	33586498		2203	4300	6503	SO:0001819	synonymous_variant	162394	exon2			GCTACCTGTCCAT	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.789T>C	17.37:g.33586498T>C		Somatic	205	0		WXS	Illumina GAIIx	Phase_I	111	4	NM_144975	0	0	7	7	0	Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	CCDS32619.1																																																																																			.		0.433	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		C	33586498	T	C	33586498	2	2	7	1	0	0	0	0	0	0	0	1	14782	1567	55	4		4	SLFN5	17	33586498	Silent	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10		33586498	47608712	81	1350											
BRCA1	672	bcgsc.ca	37	chr17	41234470	41234470	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctcaagggcagaAgagtcacttatgatggaagg	14	8	2	3	rs397509161|rs1060915	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:41234470A>G	ENST00000357654.3	-	12	4426	c.4308T>C	c.(4306-4308)tcT>tcC	p.S1436S	BRCA1_ENST00000352993.3_Silent_p.S294S|BRCA1_ENST00000493795.1_Silent_p.S1389S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Silent_p.S333S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_Silent_p.S1140S|BRCA1_ENST00000346315.3_Silent_p.S1436S|BRCA1_ENST00000471181.2_Silent_p.S1436S|BRCA1_ENST00000351666.3_Silent_p.S253S|BRCA1_ENST00000468300.1_Silent_p.S333S|BRCA1_ENST00000354071.3_Silent_p.S1436S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1436					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)		CAAGGGCAGAAGAGTCACTTA	0.448			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A|||	1684	0.336262	0.1596	0.3646	5008	,	,		20402	0.371		0.3579	False		,,,				2504	0.4969				p.S1436S		.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1-3415	0			c.T4308C	GRCh37	CD086610	BRCA1	D	rs1060915	.	A	,,,,	832,3574	328.8+/-300.7	77,678,1448	232	201	212	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4308,4167,999,999,4308	0.3	0	17	dbSNP_86	212	2804,5796	444.4+/-360.7	446,1912,1942	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BRCA1	NM_007294.3,NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3	,,,,	523,2590,3390	GG,GA,AA		32.6047,18.8833,27.9563	,,,,	1436/1864,1389/1817,333/760,333/700,1436/1885	41234470	3636,9370	2203	4300	6503	SO:0001819	synonymous_variant	672	exon12	Familial Cancer Database		GGCAGAAGAGTCA	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.4308T>C	17.37:g.41234470A>G		Somatic	244	0		WXS	Illumina GAIIx	Phase_I	65	5	NM_007300	0	0	5	5	0	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1	663	0.30357142857142855	63	0.12804878048780488	139	0.3839779005524862	189	0.3304195804195804	272	0.35883905013192613	A	7.064	0.566994	0.13560	0.188833	0.326047	ENSG00000012048	ENST00000461574	.	.	.	5.26	0.257	0.15574	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44636	-0.9315	3	.	.	.	.	2.9468	0.05848	0.3693:0.0:0.2857:0.345	rs1060915;rs2229039;rs3201861;rs3737558;rs4986843;rs8176184;rs17434734;rs17739641;rs58905919;rs1060915	.	.	.	P	201	.	.	L	-	2	0	BRCA1	38487996	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-0.119000	0.10676	0.129000	0.18514	0.533000	0.62120	CTT	A|0.713;G|0.287		0.448	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		G	41234470	A	G	41234470	2	3	7	1	0	0	0	0	0	0	0	1	1502	59	3	4		4	BRCA1	17	41234470	Silent	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	7647972	41234470	39960740	82	1351											
GPATCH8	23131	ucsc.edu;bcgsc.ca	37	chr17	42475983	42475983	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacttcttattgggctttcgGgtagctgggagcttccctat	11	10	1	0	rs936019	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:42475983G>C	ENST00000591680.1	-	8	3492	c.3462C>G	c.(3460-3462)acC>acG	p.T1154T	GPATCH8_ENST00000434000.1_Silent_p.T1076T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1154							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGGCTTTCGGGTAGCTGGGA	0.562													G|||	2462	0.491613	0.4009	0.5937	5008	,	,		18050	0.497		0.6014	False		,,,				2504	0.4233				p.T1154T		.											.	GPATCH8-94	0			c.C3462G						.	G		1816,2588	505.6+/-366.2	383,1050,769	134	140	138		3462	1.7	1	17	dbSNP_86	138	5354,3246	638.5+/-399.3	1659,2036,605	no	coding-synonymous	GPATCH8	NM_001002909.2		2042,3086,1374	CC,CG,GG		37.7442,41.2352,44.8631		1154/1503	42475983	7170,5834	2202	4300	6502	SO:0001819	synonymous_variant	23131	exon8			CTTTCGGGTAGCT	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3462C>G	17.37:g.42475983G>C		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_001002909	0	0	4	4	0	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																			G|0.435;C|0.565		0.562	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		C	42475983	G	C	42475983	2	2	7	1	0	0	0	0	0	0	0	1	6620	1219	43	3		3	GPATCH8	17	42475983	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	1241513	42475983	38719227	83	1352											
GAA	2548	bcgsc.ca	37	chr17	78091405	78091405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctccctccaggtgccaGtagaggcccttggcagcctc	10	16	1	1	rs1126690	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:78091405G>A	ENST00000302262.3	+	17	2557	c.2338G>A	c.(2338-2340)Gta>Ata	p.V780I	GAA_ENST00000390015.3_Missense_Mutation_p.V780I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	780			V -> I (in dbSNP:rs1126690). {ECO:0000269|PubMed:2111708, ECO:0000269|PubMed:2268276, ECO:0000269|PubMed:3049072, ECO:0000269|PubMed:7717400, ECO:0000269|Ref.5}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCAGGTGCCAGTAGAGGCCCT	0.682													A|||	3565	0.711861	0.7156	0.5519	5008	,	,		16814	0.6498		0.7624	False		,,,				2504	0.8323				p.V780I		.											.	GAA-91	0			c.G2338A						.	A	ILE/VAL,ILE/VAL,ILE/VAL	3087,1319	417.4+/-337.9	1093,901,209	49	49	49		2338,2338,2338	-2.1	0	17	dbSNP_86	49	6446,2150	351.1+/-328.1	2413,1620,265	yes	missense,missense,missense	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	29,29,29	3506,2521,474	AA,AG,GG		25.0116,29.9365,26.6805	benign,benign,benign	780/953,780/953,780/953	78091405	9533,3469	2203	4298	6501	SO:0001583	missense	2548	exon18			GTGCCAGTAGAGG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2338G>A	17.37:g.78091405G>A	ENSP00000305692:p.Val780Ile	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	143	5	NM_001079803	0	0	0	0	0	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	1515	0.6936813186813187	354	0.7195121951219512	205	0.5662983425414365	380	0.6643356643356644	576	0.7598944591029023	A	0.485	-0.878283	0.02550	0.700635	0.749884	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.89875	-2.58;-2.58	4.12	-2.09	0.07232	.	1.354520	0.05220	N	0.508455	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.36359	-0.9751	9	0.18276	T	0.48	-1.6299	5.9651	0.19320	0.3836:0.1344:0.482:0.0	rs1126690;rs1800313;rs2229226;rs3176968;rs3181855;rs11540430;rs17410595;rs58045900;rs1126690	780	P10253	LYAG_HUMAN	I	780	ENSP00000305692:V780I;ENSP00000374665:V780I	ENSP00000305692:V780I	V	+	1	0	GAA	75706000	0.000000	0.05858	0.008000	0.14137	0.212000	0.24457	-0.389000	0.07342	-0.561000	0.06094	-1.305000	0.01319	GTA	G|0.277;A|0.723		0.682	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78091405	G	A	78091405	3	1	7	1	0	0	0	0	1	0	0	0	6171	1029	36	3	2400	3	GAA	17	78091405	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	35615422	78091405	3103805	84	1353											
DSG1	1828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	28918353	28918353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcactttgaaaaataaAgttaccaaggaacagtacaa	5	7	1	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:28918353A>G	ENST00000257192.4	+	10	1553	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAAAAATAAAGTTACCAAGG	0.333																																					p.K447K		.											.	DSG1-519	0			c.A1341G						.						79	79	79					18																	28918353		2203	4299	6502	SO:0001819	synonymous_variant	1828	exon10			AAATAAAGTTACC	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1341A>G	18.37:g.28918353A>G		Somatic	311	1		WXS	Illumina GAIIx	Phase_I	273	112	NM_001942	0	0	0	0	0	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																			.		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		G	28918353	A	G	28918353	2	3	7	1	0	0	0	0	0	0	0	1	4790	69	3	4		4	DSG1	18	28918353	Silent	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10		28918353	49158895	85	1354											
PIK3C3	5289	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	39637866	39637867	+	Frame_Shift_Ins	INS	-	-	T													gcaaactcttccacatagacINStttggatatattttgggtcg							TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:39637866_39637867insT	ENST00000262039.4	+	22	2369_2370	c.2283_2284insT	c.(2284-2286)tttfs	p.F762fs	PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.F699fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.F247fs|PIK3C3_ENST00000588156.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	762	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						TCCACATAGACTTTGGATATAT	0.406										TSP Lung(28;0.18)																											p.D761fs	NSCLC(37;552 1060 2683 16430 37914)	.											.	PIK3C3-1312	0			c.2283_2284insT						.																																			SO:0001589	frameshift_variant	5289	exon22			CATAGACTTTGGA	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.2286dupT	18.37:g.39637869_39637869dupT	ENSP00000262039:p.Phe762fs	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	47	12	NM_002647	0	0	0	0	0	Q15134	Frame_Shift_Ins	INS	ENST00000262039.4	37	CCDS11920.1																																																																																			.		0.406	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39637867	-	T	39637866	7	5	7	1	0	1	1	0	0	0	0	0	11951	564	20	0	2369	0	PIK3C3	18	39637866	Frame_Shift_Ins	INS	-	TCGA-OR-A5J7-01A-11D-A29I-10	10719513	39637866	38439382	86	1355											
MEX3C	51320	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr18	48723211	48723211	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagcacagaccccagggaCccgcccgggatctgctgggt	14	15	1	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:48723211C>G	ENST00000591040.1	-	2	43				MEX3C_ENST00000592416.1_5'Flank			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)		ACCCCAGGGACCCGCCCGGGA	0.751																																					p.G160G		.											.	MEX3C-659	0			c.G480C						.						13	17	15					18																	48723211		1401	3025	4426	SO:0001627	intron_variant	51320	exon1			CAGGGACCCGCCC	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.757-19265G>C	18.37:g.48723211C>G		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	32	16	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	37																																																																																				.		0.751	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		G	48723211	C	G	48723211	1	3	7	0	1	0	0	0	0	0	0	0	9549	494	18	3		3	MEX3C	18	48723211	Intron	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	9085345	48723211	29354037	87	1356											
ODF3L2	284451	hgsc.bcm.edu	37	chr19	464080	464080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggcggtaggtgtttgCgtccgggctgtcgtactggc	18	10	0	0	rs76592524	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6	7	7		634	2.7	1	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	22	16	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		T	464080	C	T	464080	3	4	7	1	0	0	0	0	1	0	0	0	10871	768	27	1	239	1	ODF3L2	19	464080	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		464080	58664903	88	1357											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000313093.2_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_019112	0	0	2	9	7	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	7	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	600964	1065044	58063939	89	1358											
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8156470	8156470	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctcctctgagcactcgtcGatatctggaagggcagggac	14	11	2	1	rs567421534		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:8156470G>A	ENST00000600128.1	-	48	6324	c.5910C>T	c.(5908-5910)atC>atT	p.I1970I	FBN3_ENST00000601739.1_Silent_p.I1970I|FBN3_ENST00000270509.2_Silent_p.I1970I			Q75N90	FBN3_HUMAN	fibrillin 3	1970	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1970I(2)		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						AGCACTCGTCGATATCTGGAA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		17863	0		0	False		,,,				2504	0				p.I1970I		.											.	FBN3-100	2	Substitution - coding silent(2)	skin(2)	c.C5910T						.						89	79	82					19																	8156470		2203	4300	6503	SO:0001819	synonymous_variant	84467	exon47			CTCGTCGATATCT		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.5910C>T	19.37:g.8156470G>A		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	97	24	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986104	0.02180	.	.	ENSG00000142449	ENST00000341066	.	.	.	4.45	-1.96	0.07525	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.22109	T	0.4	.	9.9319	0.41528	0.2297:0.0:0.7703:0.0	.	.	.	.	L	90	.	ENSP00000341317:S90L	S	-	2	0	FBN3	8062470	0.871000	0.30034	0.137000	0.22149	0.004000	0.04260	0.179000	0.16840	-0.643000	0.05473	-0.982000	0.02568	TCG	.		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8156470	G	A	8156470	2	1	7	1	0	0	0	0	0	0	0	1	5726	1048	37	1		1	FBN3	19	8156470	Silent	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	7091426	8156470	50972513	90	1359											
C19orf44	84167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16611629	16611629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaggaaagccagccGtcccatgcgtgatgtttttg	11	10	1	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:16611629G>A	ENST00000221671.3	+	2	182	c.26G>A	c.(25-27)cGt>cAt	p.R9H	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.R9H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	9										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AAAGCCAGCCGTCCCATGCGT	0.428																																					p.R9H		.											.	C19orf44-90	0			c.G26A						.						118	108	111					19																	16611629		2203	4300	6503	SO:0001583	missense	84167	exon2			CCAGCCGTCCCAT	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.26G>A	19.37:g.16611629G>A	ENSP00000221671:p.Arg9His	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	164	33	NM_032207	0	0	0	0	0	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	7.373	0.627137	0.14257	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.46	-6.65	0.01795	.	1.869930	0.02813	N	0.124605	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.001;0.017	B;B	0.08055	0.001;0.003	T	0.09796	-1.0658	9	0.18276	T	0.48	2.5604	1.6735	0.02817	0.3637:0.1749:0.3465:0.115	.	9;9	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	H	9	.	ENSP00000221671:R9H	R	+	2	0	C19orf44	16472629	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.693000	0.05121	-1.134000	0.02899	0.655000	0.94253	CGT	.		0.428	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		A	16611629	G	A	16611629	3	1	7	1	0	0	0	0	1	0	0	0	1934	1145	40	1	28	1	C19orf44	19	16611629	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	8455159	16611629	42517354	91	1360											
SCGBL	284402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35085180	35085180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggactggggttgtaaCgagcaagctcctccttcagg	14	10	2	0	rs142177025		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:35085180C>T	ENST00000601241.1	-	3	2246	c.146G>A	c.(145-147)cGt>cAt	p.R49H	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.R49H			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	49						extracellular region (GO:0005576)											GGGGTTGTAACGAGCAAGCTC	0.493																																					p.R49H		.											.	.	0			c.G146A						.						123	107	113					19																	35085180		2203	4300	6503	SO:0001583	missense	284402	exon2			TTGTAACGAGCAA	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.146G>A	19.37:g.35085180C>T	ENSP00000469876:p.Arg49His	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	188	41	NM_001025591	0	0	0	0	0		Missense_Mutation	SNP	ENST00000601241.1	37	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.551369	0.00918	.	.	ENSG00000205209	ENST00000379204	T	0.14022	2.54	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	7	0.87932	D	0	.	.	.	.	.	49	Q4G0G5	SCGBL_HUMAN	H	49	ENSP00000368502:R49H	ENSP00000368502:R49H	R	-	2	0	SCGBL	39777020	0.004000	0.15560	0.100000	0.21137	0.102000	0.19082	-2.976000	0.00665	-1.410000	0.02035	-1.404000	0.01136	CGT	C|1.000;A|0.000		0.493	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		T	35085180	C	T	35085180	3	4	7	1	0	0	0	0	1	0	0	0	13947	536	19	1	152	1	SCGBL	19	35085180	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	18473551	35085180	24043803	92	1361											
PLEKHG2	64857	hgsc.bcm.edu	37	chr19	39915729	39915729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtcacgggcatcttcgcCgcccccccagccccagccac	8	23	2	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:39915729C>T	ENST00000409794.3	+	19	4806	c.3956C>T	c.(3955-3957)cCg>cTg	p.P1319L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1290L|PLEKHG2_ENST00000458508.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1319	Poly-Pro.				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)			GCATCTTCGCCGCCCCCCCAG	0.751																																					p.P1319L		.											.	PLEKHG2-274	0			c.C3956T						.						6	8	7					19																	39915729		1940	4041	5981	SO:0001583	missense	64857	exon19			CTTCGCCGCCCCC	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.3956C>T	19.37:g.39915729C>T	ENSP00000386733:p.Pro1319Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	42	20	NM_022835	0	0	1	1	0	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.310109|2.310109	0.40895|0.40895	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673|ENST00000205135	T;T|.	0.80393|.	-1.26;-1.37|.	4.97|4.97	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.41823|.	D|.	0.000811|.	T|T	0.54175|0.54175	0.1842|0.1842	M|M	0.62723|0.62723	1.935|1.935	0.33398|0.33398	D|D	0.577002|0.577002	P;P|.	0.40230|.	0.708;0.584|.	B;B|.	0.34991|.	0.193;0.095|.	T|T	0.62774|0.62774	-0.6783|-0.6783	9|5	.|.	.|.	.|.	.|.	6.2789|6.2789	0.20997|0.20997	0.0:0.7096:0.1904:0.1|0.0:0.7096:0.1904:0.1	.|.	1290;1319|.	Q9H7P9-3;Q9H7P9|.	.;PKHG2_HUMAN|.	L|C	1319;1290|1187	ENSP00000386733:P1319L;ENSP00000392906:P1290L|.	.|.	P|R	+|+	2|1	0|0	PLEKHG2|PLEKHG2	44607569|44607569	0.373000|0.373000	0.25073|0.25073	0.121000|0.121000	0.21740|0.21740	0.107000|0.107000	0.19398|0.19398	1.400000|1.400000	0.34577|0.34577	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CCG|CGC	.		0.751	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		T	39915729	C	T	39915729	3	4	7	1	0	0	0	0	1	0	0	0	12108	652	23	1	4026	1	PLEKHG2	19	39915729	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	4830549	39915729	19213254	93	1362											
LYPD3	27076	broad.mit.edu	37	chr19	43965594	43965594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatggggctgctggggcCccccttttgcaggatactgc	13	11	0	0	rs149095976	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:43965594C>T	ENST00000244333.3	-	5	1038	c.950G>A	c.(949-951)gGg>gAg	p.G317E		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	317					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CTGCTGGGGCCCCCCTTTTGC	0.622													C|||	4	0.000798722	0	0.0014	5008	,	,		16242	0		0.003	False		,,,				2504	0				p.G317E		.											.	LYPD3-91	0			c.G950A						.	C	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	43	46	45		950	0.4	0	19	dbSNP_134	45	11,8589	8.4+/-32.0	0,11,4289	yes	missense	LYPD3	NM_014400.2	98	0,13,6490	TT,TC,CC		0.1279,0.0454,0.1	benign	317/347	43965594	13,12993	2203	4300	6503	SO:0001583	missense	27076	exon5			TGGGGCCCCCCTT	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.950G>A	19.37:g.43965594C>T	ENSP00000244333:p.Gly317Glu	Somatic	57	1		WXS	Illumina GAIIx	Phase_I	105	3	NM_014400	0	0	4	4	0	Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	CCDS12620.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.42	1.345506	0.24426	4.54E-4	0.001279	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12879	2.64	5.13	0.434	0.16539	.	0.666605	0.13500	N	0.383293	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.20368	0.044	B	0.18263	0.021	T	0.31336	-0.9947	10	0.72032	D	0.01	.	4.5533	0.12124	0.3053:0.5268:0.0:0.1679	.	317	O95274	LYPD3_HUMAN	E	317;265	ENSP00000244333:G317E	ENSP00000244333:G317E	G	-	2	0	LYPD3	48657434	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.324000	0.07986	0.018000	0.15052	-0.143000	0.13931	GGG	C|0.999;T|0.001		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		T	43965594	C	T	43965594	3	4	7	1	0	0	0	0	1	0	0	0	9147	623	22	3	94	3	LYPD3	19	43965594	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	4049865	43965594	15163389	94	1363											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	11	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	7	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	3161730	47127324	12001659	95	1364											
SULT2B1	6820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	49079309	49079309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagatgtgcgggacgaCgacatctttatcatcaccta	8	12	3	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:49079309C>T	ENST00000201586.2	+	2	361	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SULT2B1_ENST00000323090.4_Silent_p.D46D	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	61					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGCGGGACGACGACATCTTTA	0.632																																					p.D61D		.											.	SULT2B1-91	0			c.C183T						.						114	98	103					19																	49079309		2203	4300	6503	SO:0001819	synonymous_variant	6820	exon2			GGACGACGACATC	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.183C>T	19.37:g.49079309C>T		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	75	13	NM_177973	0	0	0	0	0	O00205|O75814	Silent	SNP	ENST00000201586.2	37	CCDS12723.1																																																																																			.		0.632	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		T	49079309	C	T	49079309	2	4	7	1	0	0	0	0	0	0	0	1	15429	535	19	1		1	SULT2B1	19	49079309	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	1951985	49079309	10049674	96	1365											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_145807	0	0	0	4	4	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	7	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	85643	49164952	9964031	97	1366											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	20	11	1	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		Somatic	34	5		WXS	Illumina GAIIx	Phase_I	106	22	NM_007254	0	0	73	79	6	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		C	50370408	T	C	50370408	2	2	7	1	0	0	0	0	0	0	0	1	12186	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10	1205456	50370408	8758575	98	1367											
AKT1S1	84335	hgsc.bcm.edu	37	chr19	50376388	50376388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaacggcgcgctgcctcCgccagggctcctcgaccatg	13	17	0	0	rs201965042	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:50376388C>T	ENST00000391833.1	-	1	2154	c.165G>A	c.(163-165)gcG>gcA	p.A55A	AKT1S1_ENST00000391831.1_Silent_p.A55A|AKT1S1_ENST00000391834.2_Silent_p.A55A|AKT1S1_ENST00000391835.1_Silent_p.A75A|AKT1S1_ENST00000391832.3_Silent_p.A55A|AKT1S1_ENST00000344175.5_Silent_p.A55A	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGCTGCCTCCGCCAGGGCTC	0.746													c|||	15	0.00299521	0.0106	0.0014	5008	,	,		9717	0		0	False		,,,				2504	0				p.A75A		.											.	AKT1S1-186	0			c.G225A						.	G	,,	34,4102		0,34,2034	15	12	13		165,165,165	-9.8	0.1	19		13	3,8013		0,3,4005	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1S1	NM_001098632.1,NM_001098633.1,NM_032375.3	,,	0,37,6039	TT,TC,CC		0.0374,0.8221,0.3045	,,	55/257,55/257,55/257	50376388	37,12115	2068	4008	6076	SO:0001819	synonymous_variant	84335	exon2			TGCCTCCGCCAGG	BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.165G>A	19.37:g.50376388C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	6	NM_032375	0	0	24	59	35		Silent	SNP	ENST00000391833.1	37	CCDS12784.1																																																																																			C|0.999;T|0.001		0.746	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		T	50376388	C	T	50376388	2	4	7	1	0	0	0	0	0	0	0	1	479	639	23	1		1	AKT1S1	19	50376388	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	5980	50376388	8752595	99	1368											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_033089	0	0	0	1	1	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	7	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10		278515	62747005	100	1369											
SMOX	54498	bcgsc.ca	37	chr20	4163302	4163302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgggaggacgaagcAgagagccacaccctcaccta	12	11	1	1	rs1051904	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:4163302A>G	ENST00000305958.4	+	5	1401	c.1176A>G	c.(1174-1176)gcA>gcG	p.A392A	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.A392A|SMOX_ENST00000278795.3_Silent_p.A339A|SMOX_ENST00000339123.6_Silent_p.A339A	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	392					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGACGAAGCAGAGAGCCACA	0.597													G|||	2551	0.509385	0.4448	0.6023	5008	,	,		17731	0.4345		0.67	False		,,,				2504	0.4427				p.A392A		.											.	SMOX-153	0			c.A1176G						.	G	,,,	2170,2236	592.6+/-387.8	525,1120,558	128	115	120		1176,1017,,1017	-11	0.1	20	dbSNP_86	120	5753,2847	448.1+/-361.7	1941,1871,488	yes	coding-synonymous,coding-synonymous,intron,coding-synonymous	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	,,,	2466,2991,1046	GG,GA,AA		33.1047,49.251,39.082	,,,	392/556,339/503,,339/533	4163302	7923,5083	2203	4300	6503	SO:0001819	synonymous_variant	54498	exon5			CGAAGCAGAGAGC	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1176A>G	20.37:g.4163302A>G		Somatic	217	2		WXS	Illumina GAIIx	Phase_I	82	5	NM_175839	0	0	18	18	0	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	CCDS13075.1																																																																																			A|0.432;G|0.568		0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		G	4163302	A	G	4163302	2	3	7	1	0	0	0	0	0	0	0	1	14848	175	7	4		4	SMOX	20	4163302	Silent	SNP	A	TCGA-OR-A5J7-01A-11D-A29I-10	3884787	4163302	58862218	101	1370											
SLC24A3	57419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	19665891	19665891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacacggagggacgatgttGtggctgaggctggcaacgaa	18	7	0	1	rs140841773		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:19665891G>T	ENST00000328041.6	+	12	1407	c.1210G>T	c.(1210-1212)Gtg>Ttg	p.V404L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	404					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGACGATGTTGTGGCTGAGGC	0.542																																					p.V404L		.											.	SLC24A3-91	0			c.G1210T						.	G	LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	115	102	106		1210	4.6	0.1	20	dbSNP_134	106	0,8600		0,0,4300	no	missense	SLC24A3	NM_020689.3	32	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	404/645	19665891	1,13005	2203	4300	6503	SO:0001583	missense	57419	exon12			GATGTTGTGGCTG	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1210G>T	20.37:g.19665891G>T	ENSP00000333519:p.Val404Leu	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	108	40	NM_020689	0	0	4	5	1	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122496	0.06795	2.27E-4	0.0	ENSG00000185052	ENST00000328041	T	0.60672	0.17	5.59	4.62	0.57501	.	0.500414	0.22654	N	0.057283	T	0.38931	0.1059	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.08055	0.003	T	0.14868	-1.0457	9	.	.	.	.	13.1365	0.59411	0.0807:0.0:0.9193:0.0	.	404	Q9HC58	NCKX3_HUMAN	L	404	ENSP00000333519:V404L	.	V	+	1	0	SLC24A3	19613891	0.963000	0.33076	0.121000	0.21740	0.498000	0.33706	2.982000	0.49337	1.305000	0.44909	0.563000	0.77884	GTG	G|1.000;T|0.000		0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		T	19665891	G	T	19665891	3	4	7	1	0	0	0	0	1	0	0	0	14512	1377	48	3	1256	3	SLC24A3	20	19665891	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	15502589	19665891	43359629	102	1371											
SLC17A9	63910	bcgsc.ca	37	chr20	61598731	61598731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctacttgatggagaccaCgggctcctggacttgcctgt	13	12	0	2	rs7271712	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:61598731C>T	ENST00000370351.4	+	13	1321	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	SLC17A9_ENST00000370349.3_Missense_Mutation_p.T391M|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	397			T -> M (in dbSNP:rs7271712).		exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGAGACCACGGGCTCCTGG	0.642													C|||	209	0.0417332	0.0923	0.0663	5008	,	,		16280	0		0.0378	False		,,,				2504	0.0031				p.T397M		.											.	SLC17A9-92	0			c.C1190T						.	C	MET/THR	339,3741		11,317,1712	178	189	186		1190	2.6	1	20	dbSNP_116	186	237,8167		9,219,3974	yes	missense	SLC17A9	NM_022082.3	81	20,536,5686	TT,TC,CC		2.8201,8.3088,4.6139	probably-damaging	397/437	61598731	576,11908	2040	4202	6242	SO:0001583	missense	63910	exon13			AGACCACGGGCTC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1190C>T	20.37:g.61598731C>T	ENSP00000359376:p.Thr397Met	Somatic	193	1		WXS	Illumina GAIIx	Phase_I	130	6	NM_022082	0	0	1	1	0	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	99	0.04532967032967033	50	0.1016260162601626	22	0.06077348066298342	0	0.0	27	0.03562005277044855	C	15.68	2.906278	0.52333	0.083088	0.028201	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60548	0.18;0.18	4.6	2.6	0.31112	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.153499	0.64402	N	0.000019	T	0.04861	0.0131	M	0.76838	2.35	0.80722	D	1	D;D	0.64830	0.968;0.994	P;P	0.55965	0.619;0.788	T	0.13098	-1.0522	10	0.59425	D	0.04	.	9.7201	0.40297	0.0:0.7804:0.1415:0.0781	rs7271712;rs52790132;rs7271712	397;391	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	397;391	ENSP00000359376:T397M;ENSP00000359374:T391M	ENSP00000359374:T391M	T	+	2	0	SLC17A9	61069176	0.991000	0.36638	0.957000	0.39632	0.822000	0.46500	2.977000	0.49297	0.451000	0.26802	0.561000	0.74099	ACG	C|0.952;T|0.048		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		T	61598731	C	T	61598731	3	4	7	1	0	0	0	0	1	0	0	0	14469	536	19	1	1240	1	SLC17A9	20	61598731	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	41932840	61598731	1426789	103	1372											
KRTAP10-10	353333	ucsc.edu	37	chr21	46057625	46057625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcctgctgtgtgccTgtctgctgtgtgcccgtctg	14	13	2	0	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																					p.P97P		.											.	KRTAP10-10-90	0			c.T291C						.						82	79	80					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333	exon1			TGTGCCTGTCTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	107	6	NM_181688	0	0	0	0	0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|1.000;|0.000		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057625	T	C	46057625	2	2	7	1	0	0	0	0	0	0	0	1	8533	1567	55	4		4	KRTAP10-10	21	46057625	Silent	SNP	T	TCGA-OR-A5J7-01A-11D-A29I-10		46057625	2072270	104	1373											
COL6A2	1292	hgsc.bcm.edu	37	chr21	47532263	47532263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccgtggtcatcaccgaCggccacgtcaccggcagccc	11	18	3	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr21:47532263C>T	ENST00000300527.4	+	3	590	c.486C>T	c.(484-486)gaC>gaT	p.D162D	COL6A2_ENST00000357838.4_Silent_p.D162D|COL6A2_ENST00000409416.1_Silent_p.D162D|COL6A2_ENST00000310645.5_Silent_p.D162D|COL6A2_ENST00000397763.1_Silent_p.D162D	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	162	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCACCGACGGCCACGTCA	0.716																																					p.D162D		.											.	COL6A2-515	0			c.C486T						.						14	15	15					21																	47532263		2173	4254	6427	SO:0001819	synonymous_variant	1292	exon3			CACCGACGGCCAC	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.486C>T	21.37:g.47532263C>T		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	72	19	NM_058175	0	0	34	34	0	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																			.		0.716	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47532263	C	T	47532263	2	4	7	1	0	0	0	0	0	0	0	1	3707	535	19	1		1	COL6A2	21	47532263	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	1474638	47532263	597632	105	1374											
CECR2	27443	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	17983977	17983977	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgcgagaggacctcccttCgagaacggcagctctacaag	11	13	1	2			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:17983977C>T	ENST00000400585.2	+	7	748	c.310C>T	c.(310-312)Cga>Tga	p.R104*	CECR2_ENST00000342247.5_Nonsense_Mutation_p.R225*|CECR2_ENST00000400573.5_Nonsense_Mutation_p.R245*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R226*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	267					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)				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)		GACCTCCCTTCGAGAACGGCA	0.582																																					.		.											.	CECR2-70	0			.						.						67	75	73					22																	17983977		1992	4163	6155	SO:0001587	stop_gained	27443	.			TCCCTTCGAGAAC	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.310C>T	22.37:g.17983977C>T	ENSP00000383428:p.Arg104*	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	46	38	.	0	0	0	0	0	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.939690	0.92526	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.35	1.43	0.22495	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8471	13.3044	0.60345	0.6823:0.3177:0.0:0.0	.	.	.	.	X	225;104;245;226	.	ENSP00000262608:R226X	R	+	1	2	CECR2	16363977	0.994000	0.37717	0.875000	0.34327	0.469000	0.32828	3.131000	0.50515	0.686000	0.31488	0.655000	0.94253	CGA	.		0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		T	17983977	C	T	17983977	4	4	7	1	0	0	0	0	0	1	0	0	3213	876	31	1	697	1	CECR2	22	17983977	Nonsense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		17983977	33320589	106	1375											
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	38307969	38307970	+	Missense_Mutation	DNP	TC	TC	AT													cctcttgcagagattttgatTcgctttccaaggacaatgtc					rs201864925	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T|	T|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:38307969_38307970TC>AT	ENST00000215957.6	+	2	283_284	c.157_158TC>AT	c.(157-159)TCg>ATg	p.S53M		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGATTTTGATTCGCTTTCCAAG	0.52																																					p.S53T|p.S53L		.											.	MICALL1-153	0			c.T157A|c.C158T						.																																			SO:0001583	missense	85377	exon2			TTTGATTCGCTTT|TTGATTCGCTTTC	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	Exception_encountered	22.37:g.38307969_38307970delinsAT	ENSP00000215957:p.Ser53Met	Somatic	248|252	0|2		WXS	Illumina GAIIx	Phase_I	253|259	65|68	NM_033386	0	0	0	0	0	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1																																																																																			.|C|0.999;T|0.001		0.52	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		AT	38307970	TC	AT	38307969	3	1	7	1	0	0	0	0	1	0	0	0	9611	1783	62	5	163	5	MICALL1	22	38307969	Missense_Mutation	DNP	TC	TCGA-OR-A5J7-01A-11D-A29I-10	20323992	38307969	12996597	107	1376											
SCO2	9997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	50962186	50962186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagtggtccacgatgtagtCctggtcctcatccttggggc	14	11	1	0			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:50962186C>A	ENST00000543927.1	-	2	861	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000395693.3_Missense_Mutation_p.D219Y|SCO2_ENST00000252785.3_Missense_Mutation_p.D219Y|SCO2_ENST00000535425.1_Missense_Mutation_p.D219Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	219	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGTAGTCCTGGTCCTCA	0.572																																					p.D219Y		.											.	SCO2-226	0			c.G655T						.						224	188	200					22																	50962186		2203	4300	6503	SO:0001583	missense	9997	exon2			TGTAGTCCTGGTC	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.655G>T	22.37:g.50962186C>A	ENSP00000444433:p.Asp219Tyr	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	83	14	NM_001169111	0	0	21	26	5	Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858509	0.71834	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	4.97	4.97	0.65823	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000002	D	0.97300	0.9117	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97889	1.0296	10	0.87932	D	0	-23.597	16.0963	0.81127	0.0:1.0:0.0:0.0	.	219	O43819	SCO2_HUMAN	Y	219	ENSP00000379046:D219Y;ENSP00000444433:D219Y;ENSP00000444242:D219Y;ENSP00000252785:D219Y	ENSP00000252785:D219Y	D	-	1	0	SCO2	49309052	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.911000	0.75746	2.486000	0.83907	0.643000	0.83706	GAC	.		0.572	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		A	50962186	C	A	50962186	3	1	7	1	0	0	0	0	1	0	0	0	13977	855	30	3	149	3	SCO2	22	50962186	Missense_Mutation	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10	12654217	50962186	342380	108	1377											
VCX3B	425054	bcgsc.ca	37	chrX	8434367	8434367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccactgagtcaggagagCgagatggaagaaccactgag	14	8	1	5	rs139169782		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chrX:8434367C>T	ENST00000381032.1	+	3	991	c.684C>T	c.(682-684)agC>agT	p.S228S	VCX3B_ENST00000381029.4_Silent_p.S196S|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Silent_p.S198S|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	228	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GTCAGGAGAGCGAGATGGAAG	0.557													-|||	923	0.244503	0.0968	0.147	3775	,	,		6423	0.2887		0.1173	False		,,,				2504	0.2904				p.S228S		.											.	.	0			c.C684T						.	C		600,2579		158,223,61,977,402	108	222	187		684	-0.6	0	X	dbSNP_134	187	808,5694		89,402,228,1896,1500	no	coding-synonymous	VCX3B	NM_001001888.3		247,625,289,2873,1902	TT,TC,T,CC,C		12.4269,18.8739,14.544		228/247	8434367	1408,8273	1821	4115	5936	SO:0001819	synonymous_variant	425054	exon3			GGAGAGCGAGATG		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.684C>T	X.37:g.8434367C>T		Somatic	882	10		WXS	Illumina GAIIx	Phase_I	449	11	NM_001001888	0	0	0	0	0	C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	CCDS48077.2																																																																																			C|0.778;T|0.222		0.557	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			T	8434367	C	T	8434367	2	4	7	1	0	0	0	0	0	0	0	1	17194	767	27	1		1	VCX3B	23	8434367	Silent	SNP	C	TCGA-OR-A5J7-01A-11D-A29I-10		8434367	146836193	109	1378											
WDR44	54521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117570692	117570692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcttctttcttcttcaatgGataaaacagtcagattatgg	6	7	6	1			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chrX:117570692G>C	ENST00000254029.3	+	14	2274	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	WDR44_ENST00000371825.3_Missense_Mutation_p.D627H|WDR44_ENST00000371822.5_Missense_Mutation_p.D602H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	627						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						TTCTTCAATGGATAAAACAGT	0.328																																					p.D627H		.											.	WDR44-133	0			c.G1879C						.						118	104	109					X																	117570692		2202	4298	6500	SO:0001583	missense	54521	exon14			TCAATGGATAAAA	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.1879G>C	X.37:g.117570692G>C	ENSP00000254029:p.Asp627His	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	157	70	NM_001184965	0	0	1	2	1	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.724994|4.724994	0.89298|0.89298	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	D;D;D|.	0.89415|.	-2.51;-2.51;-2.51|.	5.58|5.58	5.58|5.58	0.84498|0.84498	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|D	0.90383|0.90383	0.6990|0.6990	H|H	0.97732|0.97732	4.065|4.065	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;1.0;1.0;1.0|.	D|D	0.93629|0.93629	0.6954|0.6954	10|5	0.87932|.	D|.	0|.	-0.0813|-0.0813	18.8529|18.8529	0.92240|0.92240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602;627;627;627|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	H|A	602;627;627;13|526	ENSP00000360887:D602H;ENSP00000254029:D627H;ENSP00000360890:D627H|.	ENSP00000254029:D627H|.	D|G	+|+	1|2	0|0	WDR44|WDR44	117454720|117454720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.751000|9.751000	0.98889|0.98889	2.485000|2.485000	0.83878|0.83878	0.591000|0.591000	0.81541|0.81541	GAT|GGA	.		0.328	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		C	117570692	G	C	117570692	3	2	7	1	0	0	0	0	1	0	0	0	17345	1174	41	3	1933	3	WDR44	23	117570692	Missense_Mutation	SNP	G	TCGA-OR-A5J7-01A-11D-A29I-10	109136325	117570692	37699868	110	1379											
CHD5	26038	broad.mit.edu;bcgsc.ca	37	chr1	6204158	6204158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatctcccaggtgcactgGtcgtagggcaggtctttcca	12	12	2	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:6204158G>T	ENST00000262450.3	-	12	1959	c.1860C>A	c.(1858-1860)gaC>gaA	p.D620E	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)		AGGTGCACTGGTCGTAGGGCA	0.582																																					p.D620E		.											.	CHD5-719	0			c.C1860A						.						264	209	227					1																	6204158		2203	4300	6503	SO:0001583	missense	26038	exon12			GCACTGGTCGTAG	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.1860C>A	1.37:g.6204158G>T	ENSP00000262450:p.Asp620Glu	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	278	9	NM_015557	0	0	1	1	0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269982	0.40095	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.71461	-0.57	4.3	3.39	0.38822	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	L	0.60845	1.875	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	T	0.72093	-0.4394	10	0.16896	T	0.51	-42.5485	9.1886	0.37184	0.1677:0.0:0.8323:0.0	.	620	Q8TDI0	CHD5_HUMAN	E	620;136;28;28	ENSP00000262450:D620E	ENSP00000262450:D620E	D	-	3	2	CHD5	6126745	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.618000	0.46393	1.166000	0.42689	-0.448000	0.05591	GAC	.		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6204158	G	T	6204158	3	4	8	1	0	0	0	0	1	0	0	0	3335	1252	44	3	4124	3	CHD5	1	6204158	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		6204158	243046463	1	1380											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	8	1	0	0	0	0	0	0	0	1	13695	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	20652304	26856462	222394159	2	1381											
SLC9A1	6548	broad.mit.edu	37	chr1	27440466	27440468	+	In_Frame_Del	DEL	TGT	TGT	-													caggttgtccaggaggccgaTgttgttgatctgctcaccgc							TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:27440466_27440468delTGT	ENST00000263980.3	-	2	1237_1239	c.662_664delACA	c.(661-666)aacatc>atc	p.N221del	SLC9A1_ENST00000374086.3_In_Frame_Del_p.N221del|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	221					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGGAGGCCGATGTTGTTGATCTG	0.596																																					p.221_222del		.											.	SLC9A1-91	0			c.662_664del						.																																			SO:0001651	inframe_deletion	6548	exon2			GGCCGATGTTGTT	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.662_664delACA	1.37:g.27440469_27440471delTGT	ENSP00000263980:p.Asn221del	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	150	11	NM_003047	0	0	0	0	0	B1ALD6|D3DPL4|Q96EM2	In_Frame_Del	DEL	ENST00000263980.3	37	CCDS295.1																																																																																			.		0.596	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		-	27440468	TGT	-	27440466	7	5	8	1	0	1	0	1	0	0	0	0	14754	1464	51	0	1827	0	SLC9A1	1	27440466	In_Frame_Del	DEL	TGT	TCGA-OR-A5J8-01A-11D-A29I-10	584004	27440466	221810155	3	1382											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	8	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1698509	29138975	220111646	4	1383											
CSMD2	114784	broad.mit.edu	37	chr1	34291361	34291361	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacctcgagacttcaactCaatttgcttcttgactagag	6	12	3	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:34291361C>A	ENST00000373381.4	-	7	1224	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTCAACTCAATTTGCTTC	0.537																																					p.E310X		.											.	CSMD2-103	0			c.G928T						.						103	78	86					1																	34291361		2203	4300	6503	SO:0001587	stop_gained	114784	exon7			TCAACTCAATTTG	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.1048G>T	1.37:g.34291361C>A	ENSP00000362479:p.Glu350*	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	92	3	NM_052896	0	0	0	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	40	8.469402	0.98825	.	.	ENSG00000121904	ENST00000373381	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	.	.	.	X	350	.	ENSP00000241312:E310X	E	-	1	0	CSMD2	34063948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.546000	0.82137	2.438000	0.82558	0.655000	0.94253	GAG	.		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34291361	C	A	34291361	4	1	8	1	0	0	0	0	0	1	0	0	3954	835	29	3	9787	3	CSMD2	1	34291361	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	5152386	34291361	214959260	5	1384											
KCNQ4	9132	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	41296756	41296756	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacctgcctgccctgccagCagccggatgggcatcaaaga	11	15	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:41296756C>G	ENST00000347132.5	+	10	1375	c.1293C>G	c.(1291-1293)agC>agG	p.S431R	KCNQ4_ENST00000509682.2_Splice_Site_p.S377R|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	431					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCCCTGCCAGCAGCCGGATGG	0.632																																					p.S431R		.											.	KCNQ4-90	0			c.C1293G						.						14	13	13					1																	41296756		2191	4290	6481	SO:0001630	splice_region_variant	9132	exon10			TGCCAGCAGCCGG	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1293-1C>G	1.37:g.41296756C>G		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	137	77	NM_004700	0	0	0	0	0	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.54|12.54	1.968354|1.968354	0.34754|0.34754	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99298	.|-5.71;-5.12	5.02|5.02	4.11|4.11	0.48088|0.48088	.|.	.|0.175833	.|0.47093	.|D	.|0.000250	D|D	0.96522|0.96522	0.8865|0.8865	L|L	0.34521|0.34521	1.04|1.04	0.31309|0.31309	N|N	0.687332|0.687332	.|B;P	.|0.42409	.|0.046;0.779	.|B;B	.|0.36030	.|0.033;0.216	D|D	0.95726|0.95726	0.8770|0.8770	5|9	.|.	.|.	.|.	.|.	7.9679|7.9679	0.30111|0.30111	0.0:0.8129:0.0:0.1871|0.0:0.8129:0.0:0.1871	.|.	.|377;431	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	E|R	292|431;377	.|ENSP00000262916:S431R;ENSP00000423756:S377R	.|.	Q|S	+|+	1|3	0|2	KCNQ4|KCNQ4	41069343|41069343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	2.484000|2.484000	0.45242|0.45242	1.256000|1.256000	0.44068|0.44068	0.543000|0.543000	0.68304|0.68304	CAG|AGC	.		0.632	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Missense_Mutation	G	41296756	C	G	41296756	5	3	8	1	0	0	0	0	0	0	1	0	8112	724	25	3	1331	3	KCNQ4	1	41296756	Splice_Site	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	7005395	41296756	207953865	6	1385											
TCTEX1D4	343521	hgsc.bcm.edu	37	chr1	45271828	45271828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcaccacactgcaTaccagcttgtagcgtggcgg	12	15	0	0	rs17885815	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V|BTBD19_ENST00000409335.2_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6	9	8		513	5.5	1	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	17	NM_001013632	0	0	0	0	0		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		C	45271828	T	C	45271828	2	2	8	1	0	0	0	0	0	0	0	1	15768	1393	49	4		4	TCTEX1D4	1	45271828	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	3975072	45271828	203978793	7	1386											
DMRTB1	63948	broad.mit.edu;bcgsc.ca	37	chr1	53930345	53930345	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagacttccagccaagctaCtacctgccgccgccgccgcc	10	19	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:53930345C>A	ENST00000371445.3	+	3	841	c.786C>A	c.(784-786)taC>taA	p.Y262*	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	262	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGCCAAGCTACTACCTgccgc	0.652																																					p.Y262X		.											.	DMRTB1-92	0			c.C786A						.						31	36	35					1																	53930345		2203	4300	6503	SO:0001587	stop_gained	63948	exon3			AAGCTACTACCTG	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.786C>A	1.37:g.53930345C>A	ENSP00000360500:p.Tyr262*	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	176	12	NM_033067	0	0	0	0	0	Q96SD2	Nonsense_Mutation	SNP	ENST00000371445.3	37	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095739	0.76870	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	.	.	.	4.5	3.59	0.41128	.	1.896660	0.02580	N	0.098740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7671	9.9231	0.41476	0.0:0.9035:0.0:0.0965	.	.	.	.	X	262;109	.	ENSP00000360500:Y262X	Y	+	3	2	DMRTB1	53702933	0.676000	0.27567	0.682000	0.30024	0.898000	0.52572	1.072000	0.30678	1.246000	0.43901	0.455000	0.32223	TAC	.		0.652	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			A	53930345	C	A	53930345	4	1	8	1	0	0	0	0	0	1	0	0	4604	576	20	3	796	3	DMRTB1	1	53930345	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8658517	53930345	195320276	8	1387											
FGGY	55277	broad.mit.edu	37	chr1	59844420	59844420	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatatatatttaatttggcaGaacttgagagagatttgctg	9	3	0	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:59844420G>T	ENST00000303721.7	+	5	639		c.e5-1		FGGY_ENST00000371212.1_Splice_Site|FGGY_ENST00000371218.4_Splice_Site|FGGY_ENST00000474476.1_Splice_Site	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TAATTTGGCAGAACTTGAGAG	0.373																																					.		.											.	FGGY-69	0			c.466-1G>T						.						76	78	77					1																	59844420		2203	4299	6502	SO:0001630	splice_region_variant	55277	exon5			TTGGCAGAACTTG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.466-1G>T	1.37:g.59844420G>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	45	3	NM_001113411	0	0	0	0	0	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Splice_Site	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060494	0.76074	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8435	0.88722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGGY	59617008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.942000	0.75928	2.880000	0.98712	0.650000	0.86243	.	.		0.373	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	Intron	T	59844420	G	T	59844420	5	4	8	1	0	0	0	0	0	0	1	0	5893	956	33	3	479	3	FGGY	1	59844420	Splice_Site	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5914075	59844420	189406201	9	1388											
TGFBR3	7049	broad.mit.edu	37	chr1	92187512	92187512	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaaacttctaacttacCattattttcaagccgaagat	3	8	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:92187512C>A	ENST00000525962.1	-	7	1136	c.1075G>T	c.(1075-1077)Gca>Tca	p.A359S	TGFBR3_ENST00000370399.2_Splice_Site_p.E359*|TGFBR3_ENST00000212355.4_Splice_Site_p.A359S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	359					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTAACTTACCATTATTTTCA	0.368																																					p.E359X		.											.	TGFBR3-93	0			c.G1075T						.						60	57	58					1																	92187512		2203	4300	6503	SO:0001630	splice_region_variant	7049	exon8			ACTTACCATTATT	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1075+1G>T	1.37:g.92187512C>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	45	6	NM_001195683	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.206063|10.206063	0.99359|0.99359	.|.	.|.	ENSG00000069702|ENSG00000069702	ENST00000212355;ENST00000525962|ENST00000370399;ENST00000465892	T;T|.	0.30182|.	1.54;1.54|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.391554|.	0.23100|.	N|.	0.051930|.	T|.	0.69788|.	0.3150|.	.|.	.|.	.|.	0.42214|0.42214	D|D	0.991825|0.991825	P|.	0.34522|.	0.455|.	B|.	0.33392|.	0.163|.	T|.	0.67413|.	-0.5677|.	8|.	.|.	.|.	.|.	-8.4168|-8.4168	19.4155|19.4155	0.94694|0.94694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359|.	Q03167|.	TGBR3_HUMAN|.	S|X	359|359	ENSP00000212355:A359S;ENSP00000436127:A359S|.	.|.	A|E	-|-	1|1	0|0	TGFBR3|TGFBR3	91960100|91960100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.533000|0.533000	0.34776|0.34776	6.520000|6.520000	0.73773|0.73773	2.681000|2.681000	0.91329|0.91329	0.561000|0.561000	0.74099|0.74099	GCA|GAG	.		0.368	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Missense_Mutation	A	92187512	C	A	92187512	5	1	8	1	0	0	0	0	0	0	1	0	15870	608	21	3	1520	3	TGFBR3	1	92187512	Splice_Site	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	32343092	92187512	157063109	10	1389											
ATP5F1	515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	111999313	111999313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacacatccagaatgcaaTtgatacggagaagtcacaac	7	11	1	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:111999313T>C	ENST00000369722.3	+	5	1055	c.449T>C	c.(448-450)aTt>aCt	p.I150T	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.I89T	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	150					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGAATGCAATTGATACGGAG	0.428																																					p.I150T		.											.	ATP5F1-90	0			c.T449C						.						112	104	107					1																	111999313		2203	4300	6503	SO:0001583	missense	515	exon5			ATGCAATTGATAC	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.449T>C	1.37:g.111999313T>C	ENSP00000358737:p.Ile150Thr	Somatic	355	2		WXS	Illumina GAIIx	Phase_I	342	208	NM_001688	0	0	52	207	155	Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	CCDS836.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867218	0.51588	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.48522	0.81;0.81	5.22	5.22	0.72569	.	0.043292	0.85682	D	0.000000	T	0.60431	0.2268	M	0.86864	2.845	0.58432	D	0.999999	D;D	0.54601	0.967;0.967	P;P	0.55667	0.781;0.781	T	0.70303	-0.4909	10	0.87932	D	0	.	15.0572	0.71925	0.0:0.0:0.0:1.0	.	150;150	Q08ET0;P24539	.;AT5F1_HUMAN	T	150;89	ENSP00000358737:I150T;ENSP00000420366:I89T	ENSP00000358737:I150T	I	+	2	0	ATP5F1	111800836	1.000000	0.71417	0.565000	0.28409	0.038000	0.13279	6.219000	0.72231	2.103000	0.63969	0.533000	0.62120	ATT	.		0.428	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		C	111999313	T	C	111999313	3	2	8	1	0	0	0	0	1	0	0	0	1153	1493	52	4	467	4	ATP5F1	1	111999313	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	19811801	111999313	137251308	11	1390											
TRIM33	51592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	114948141	114948141	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagacagcacaccagtcttCatttgggtcatcatctttat	7	11	5	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:114948141C>A	ENST00000358465.2	-	15	2742	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.E887*|TRIM33_ENST00000450349.2_Nonsense_Mutation_p.E519*	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	887					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)		CACCAGTCTTCATTTGGGTCA	0.463			T	RET	papillary thyroid																																p.E887X		.		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	.	TRIM33-1351	0			c.G2659T						.						275	240	252					1																	114948141		2203	4300	6503	SO:0001587	stop_gained	51592	exon15			AGTCTTCATTTGG	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.2659G>T	1.37:g.114948141C>A	ENSP00000351250:p.Glu887*	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	116	77	NM_033020	0	0	0	0	0	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Nonsense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.983277|6.983277	0.97979|0.97979	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69033	.|0.3066	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67601	.|-0.5629	.|3	0.87932|.	D|.	0|.	-14.7851|-14.7851	18.8932|18.8932	0.92413|0.92413	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	887;887;519|647	.|.	ENSP00000351250:E887X|.	E|M	-|-	1|3	0|0	TRIM33|TRIM33	114749664|114749664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.750000|7.750000	0.85110|0.85110	2.533000|2.533000	0.85409|0.85409	0.491000|0.491000	0.48974|0.48974	GAA|ATG	.		0.463	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		A	114948141	C	A	114948141	4	1	8	1	0	0	0	0	0	1	0	0	16555	835	29	3	748	3	TRIM33	1	114948141	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2948828	114948141	134302480	12	1391											
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_024408	0	0	0	2	2	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	8	1	0	0	0	0	1	0	0	0	10587	1079	38	2	7494	2	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5663823	120611964	128638657	13	1392											
IVL	3713	bcgsc.ca	37	chr1	152883056	152883056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgagcagcaggagggAcagctgaagcacctggagca	14	11	1	2	rs45609438	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:152883056A>G	ENST00000368764.3	+	2	847	c.783A>G	c.(781-783)ggA>ggG	p.G261G	IVL_ENST00000392667.2_Silent_p.G115G			P07476	INVO_HUMAN	involucrin	261	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)			agcaggagggacagctgaagc	0.657																																					p.G261G		.											.	IVL-93	0			c.A783G						.																																			SO:0001819	synonymous_variant	3713	exon2			GGAGGGACAGCTG	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.783A>G	1.37:g.152883056A>G		Somatic	110	3		WXS	Illumina GAIIx	Phase_I	122	15	NM_005547	0	0	0	0	0	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			A|0.697;G|0.303		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		G	152883056	A	G	152883056	2	3	8	1	0	0	0	0	0	0	0	1	7956	262	10	4		4	IVL	1	152883056	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	32271092	152883056	96367565	14	1393											
CD1C	911	bcgsc.ca	37	chr1	158261043	158261043	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactcatggctgggacagtGaatcaggcacaataattttc	10	8	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:158261043G>T	ENST00000368170.3	+	2	460	c.181G>T	c.(181-183)Gaa>Taa	p.E61*		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	61					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGGGACAGTGAATCAGGCAC	0.478																																					p.E61X		.											.	CD1C-94	0			c.G181T						.						117	104	108					1																	158261043		2203	4300	6503	SO:0001587	stop_gained	911	exon2			GACAGTGAATCAG	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.181G>T	1.37:g.158261043G>T	ENSP00000357152:p.Glu61*	Somatic	398	2		WXS	Illumina GAIIx	Phase_I	349	31	NM_001765	0	0	0	0	0	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Nonsense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	36	5.693531	0.96793	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	.	.	.	3.08	2.05	0.26809	.	0.258283	0.20459	N	0.091926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.3421	0.15988	0.1833:0.0:0.8167:0.0	.	.	.	.	X	61	.	ENSP00000357151:E61X	E	+	1	0	CD1C	156527667	0.000000	0.05858	0.003000	0.11579	0.227000	0.25037	-0.026000	0.12392	0.754000	0.32968	0.650000	0.86243	GAA	.		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		T	158261043	G	T	158261043	4	4	8	1	0	0	0	0	0	1	0	0	2983	1291	45	3	187	3	CD1C	1	158261043	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5377987	158261043	90989578	15	1394											
FCRL6	343413	broad.mit.edu;bcgsc.ca	37	chr1	159778893	159778893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccacaaggacggccaCaccttgcaggacaggggccc	11	16	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:159778893C>T	ENST00000368106.3	+	4	463	c.462C>T	c.(460-462)caC>caT	p.H154H	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Silent_p.H154H|FCRL6_ENST00000321935.6_Silent_p.H161H	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	154	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGACGGCCACACCTTGCAGG	0.627																																					p.H154H		.											.	FCRL6-93	0			c.C462T						.						64	64	64					1																	159778893		2203	4300	6503	SO:0001819	synonymous_variant	343413	exon4			CGGCCACACCTTG	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.462C>T	1.37:g.159778893C>T		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	140	6	NM_001004310	0	0	3	3	0	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	CCDS30912.1																																																																																			.		0.627	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		T	159778893	C	T	159778893	2	4	8	1	0	0	0	0	0	0	0	1	5821	477	17	3		3	FCRL6	1	159778893	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1517850	159778893	89471728	16	1395											
HHIPL2	79802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	222713605	222713605	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaacaaatggattgtcCgaggggactcggtaccgctt	12	9	1	1	rs376492495		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:222713605C>A	ENST00000343410.6	-	4	1255	c.1197G>T	c.(1195-1197)tcG>tcT	p.S399S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	399					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)		ATGGATTGTCCGAGGGGACTC	0.547																																					p.S399S		.											.	HHIPL2-69	0			c.G1197T						.						72	69	70					1																	222713605		2203	4300	6503	SO:0001819	synonymous_variant	79802	exon4			ATTGTCCGAGGGG	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.1197G>T	1.37:g.222713605C>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	100	11	NM_024746	0	0	0	0	0	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																			.		0.547	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222713605	C	A	222713605	2	1	8	1	0	0	0	0	0	0	0	1	7121	639	23	2		2	HHIPL2	1	222713605	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	62934712	222713605	26537016	17	1396											
LEFTY2	7044	bcgsc.ca	37	chr1	226125385	226125385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtaagccaggaagcccGggggctccagcacccagttc	12	15	0	0	rs2295418	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:226125385G>A	ENST00000366820.5	-	4	1205	c.857C>T	c.(856-858)cCg>cTg	p.P286L	LEFTY2_ENST00000420304.2_Missense_Mutation_p.P252L|LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	286			P -> L (in dbSNP:rs2295418).		blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CAGGAAGCCCGGGGGCTCCAG	0.647													G|||	256	0.0511182	8e-04	0.0504	5008	,	,		15275	0.1052		0.0308	False		,,,				2504	0.0849				p.P286L	Colon(172;116 2643 9098 43333)	.											.	LEFTY2-90	0			c.C857T						.	G	LEU/PRO,LEU/PRO	46,4360	46.7+/-81.2	0,46,2157	21	24	23		755,857	4.2	0.9	1	dbSNP_100	23	293,8307	103.1+/-164.3	8,277,4015	no	missense,missense	LEFTY2	NM_001172425.1,NM_003240.3	98,98	8,323,6172	AA,AG,GG		3.407,1.044,2.6065	probably-damaging,probably-damaging	252/333,286/367	226125385	339,12667	2203	4300	6503	SO:0001583	missense	7044	exon4			AAGCCCGGGGGCT	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.857C>T	1.37:g.226125385G>A	ENSP00000355785:p.Pro286Leu	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	223	7	NM_003240	0	0	4	4	0	B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	CCDS1549.1	97	0.044413919413919416	1	0.0020325203252032522	14	0.03867403314917127	54	0.0944055944055944	28	0.036939313984168866	g	16.59	3.166005	0.57476	0.01044	0.03407	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.63417	-0.04;-0.04	5.1	4.18	0.49190	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.105282	0.64402	N	0.000004	T	0.13030	0.0316	M	0.73962	2.25	0.20563	P	0.999880306	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64622	-0.6364	9	0.87932	D	0	.	13.5588	0.61777	0.077:0.0:0.923:0.0	rs2295418;rs52828121;rs2295418	252;286	E9PDM4;O00292	.;LFTY2_HUMAN	L	252;286	ENSP00000388009:P252L;ENSP00000355785:P286L	ENSP00000355785:P286L	P	-	2	0	LEFTY2	224192008	1.000000	0.71417	0.867000	0.34043	0.137000	0.21094	8.729000	0.91490	1.271000	0.44313	-0.258000	0.10820	CCG	G|0.969;A|0.031		0.647	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		A	226125385	G	A	226125385	3	1	8	1	0	0	0	0	1	0	0	0	8744	1116	39	1	247	1	LEFTY2	1	226125385	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	3411780	226125385	23125236	18	1397											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228505189	228505189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatcccccagaggatgCtgaggtggtggctcgcagca	14	13	0	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:228505189C>G	ENST00000422127.1	+	52	13630	c.13586C>G	c.(13585-13587)gCt>gGt	p.A4529G	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4529G|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2163G|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1648G|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5486G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4529	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGAGGATGCTGAGGTGGTG	0.642																																					p.A5486G		.											.	OBSCN-403	0			c.C16457G						.						29	31	31					1																	228505189		2011	4185	6196	SO:0001583	missense	84033	exon63			AGGATGCTGAGGT	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.13586C>G	1.37:g.228505189C>G	ENSP00000409493:p.Ala4529Gly	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	107	19	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.452730	0.84209	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.42	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.079753	0.49916	D	0.000136	T	0.66992	0.2846	M	0.66939	2.045	0.48040	D	0.999576	D;D	0.64830	0.994;0.988	D;P	0.64506	0.926;0.717	T	0.63075	-0.6718	10	0.16420	T	0.52	.	17.2147	0.86940	0.0:1.0:0.0:0.0	.	4529;4529	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	4529;4529;2163;1648	ENSP00000284548:A4529G;ENSP00000409493:A4529G;ENSP00000355668:A2163G;ENSP00000355670:A1648G	ENSP00000284548:A4529G	A	+	2	0	OBSCN	226571812	1.000000	0.71417	0.935000	0.37517	0.454000	0.32378	7.281000	0.78621	2.310000	0.77875	0.479000	0.44913	GCT	.		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228505189	C	G	228505189	3	3	8	1	0	0	0	0	1	0	0	0	10851	797	28	3	13788	3	OBSCN	1	228505189	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2379804	228505189	20745432	19	1398											
SIPA1L2	57568	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	232615375	232615375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggggaggacatacctGttgtctgttgttgggcatgt	16	6	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:232615375G>T	ENST00000366630.1	-	6	2441	c.2083C>A	c.(2083-2085)Cag>Aag	p.Q695K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.Q695K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	695	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACATACCTGTTGTCTGTTG	0.478																																					p.Q695K		.											.	SIPA1L2-95	0			c.C2083A						.						162	172	168					1																	232615375		2028	4202	6230	SO:0001583	missense	57568	exon5			ATACCTGTTGTCT	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2083C>A	1.37:g.232615375G>T	ENSP00000355589:p.Gln695Lys	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	176	14	NM_020808	0	0	0	0	0	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792793	0.90453	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.94376	-3.41;-3.41	5.53	5.53	0.82687	Rap/ran-GAP (2);	0.059437	0.64402	D	0.000001	D	0.97201	0.9085	M	0.88979	2.995	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.97177	0.9848	10	0.59425	D	0.04	-29.5602	19.8228	0.96604	0.0:0.0:1.0:0.0	.	695	Q9P2F8	SI1L2_HUMAN	K	695	ENSP00000355589:Q695K;ENSP00000262861:Q695K	ENSP00000262861:Q695K	Q	-	1	0	SIPA1L2	230681998	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	9.809000	0.99208	2.759000	0.94783	0.650000	0.86243	CAG	.		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232615375	G	T	232615375	3	4	8	1	0	0	0	0	1	0	0	0	14375	1386	48	3	3153	3	SIPA1L2	1	232615375	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	4110186	232615375	16635246	20	1399											
IRF2BP2	359948	hgsc.bcm.edu	37	chr1	234745009	234745009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcttggcggcggccgAggccgcggcgccgggtgggg	24	13	0	0	rs7545855	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:234745009A>G	ENST00000366609.3	-	1	262	c.232T>C	c.(232-234)Tcg>Ccg	p.S78P	IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.S78P|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCGGCGGCCGAGGCCGCGGCG	0.776													G|||	3024	0.603834	0.8729	0.549	5008	,	,		4430	0.2679		0.7734	False		,,,				2504	0.4509				p.S78P		.											.	IRF2BP2-90	0			c.T232C						.						1	1	1					1																	234745009		821	1921	2742	SO:0001583	missense	359948	exon1			CGGCCGAGGCCGC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.232T>C	1.37:g.234745009A>G	ENSP00000355568:p.Ser78Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_182972	0	0	0	0	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	1348	0.6172161172161172	403	0.8191056910569106	204	0.56353591160221	177	0.3094405594405594	564	0.7440633245382586	G	0.003	-2.470482	0.00167	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.31510	1.49;1.51	2.56	0.223	0.15292	.	0.798061	0.10979	N	0.612909	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31110	-0.9955	9	0.07813	T	0.8	.	4.7903	0.13245	0.3855:0.1782:0.4362:0.0	rs7545855	78;78	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	P	78	ENSP00000355569:S78P;ENSP00000355568:S78P	ENSP00000355568:S78P	S	-	1	0	IRF2BP2	232811632	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	0.684000	0.25364	-0.115000	0.11915	-0.817000	0.03123	TCG	A|0.383;G|0.617		0.776	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		G	234745009	A	G	234745009	3	3	8	1	0	0	0	0	1	0	0	0	7857	304	11	4	1539	4	IRF2BP2	1	234745009	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	2129634	234745009	14505612	21	1400											
OR2T4	127074	bcgsc.ca	37	chr1	248525380	248525380	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catcctctccgttaccctgtCctcatgaaccatagggtgtg	8	14	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr1:248525380C>A	ENST00000366475.1	+	1	498	c.498C>A	c.(496-498)gtC>gtA	p.V166V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, 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)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTACCCTGTCCTCATGAACC	0.527																																					p.V166V		.											.	OR2T4-68	0			c.C498A						.						271	236	248					1																	248525380		2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			CCCTGTCCTCATG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.498C>A	1.37:g.248525380C>A		Somatic	919	5		WXS	Illumina GAIIx	Phase_I	925	549	NM_001004696	0	0	0	0	0	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			.		0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525380	C	A	248525380	2	1	8	1	0	0	0	0	0	0	0	1	11066	842	30	3		3	OR2T4	1	248525380	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	13780371	248525380	725241	22	1401											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	8	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		1481231	241718142	23	1402											
ALK	238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	29754831	29754831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctcttgcagcctcgttGtggggcagcagctgggcaat	13	11	2	0	rs534481890		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:29754831G>A	ENST00000389048.3	-	4	2010	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	368	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGCCTCGTTGTGGGGCAGCA	0.557			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.H368H		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK-3833	0			c.C1104T						.						89	86	87					2																	29754831		2203	4300	6503	SO:0001819	synonymous_variant	238	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CTCGTTGTGGGGC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1104C>T	2.37:g.29754831G>A		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	158	19	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29754831	G	A	29754831	2	1	8	1	0	0	0	0	0	0	0	1	525	1368	48	3		3	ALK	2	29754831	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	28273600	29754831	213444542	24	1403											
FAM123C	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	131519854	131519854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgccccaacaaaggggCgcagctggaccccaaagggg	14	13	0	1	rs200636300		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:131519854C>T	ENST00000423981.1	+	2	319	c.209C>T	c.(208-210)gCg>gTg	p.A70V	AMER3_ENST00000321420.4_Missense_Mutation_p.A70V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	70					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AACAAAGGGGCGCAGCTGGAC	0.632																																					p.A70V		.											.	.	0			c.C209T						.						18	29	25					2																	131519854		2195	4294	6489	SO:0001583	missense	205147	exon2			AAGGGGCGCAGCT	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.209C>T	2.37:g.131519854C>T	ENSP00000392700:p.Ala70Val	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	75	45	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555149	0.27739	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.42900	0.96;0.96	5.39	-5.1	0.02911	.	0.803692	0.11384	N	0.569471	T	0.16769	0.0403	N	0.17082	0.46	0.09310	N	1	B	0.24533	0.105	B	0.12156	0.007	T	0.16541	-1.0399	10	0.21014	T	0.42	.	1.8922	0.03250	0.1147:0.2328:0.2261:0.4264	.	70	Q8N944	F123C_HUMAN	V	70	ENSP00000314914:A70V;ENSP00000392700:A70V	ENSP00000314914:A70V	A	+	2	0	FAM123C	131236324	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.078000	0.11375	-1.407000	0.02043	0.561000	0.74099	GCG	.		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131519854	C	T	131519854	3	4	8	1	0	0	0	0	1	0	0	0	5443	768	27	1	211	1	FAM123C	2	131519854	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	101765023	131519854	111679519	25	1404											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	152484133	152484133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagttcttgtagtccacatcGctgactaaggtctggcactt	9	10	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:152484133G>T	ENST00000172853.10	-	65	9465	c.9318C>A	c.(9316-9318)agC>agA	p.S3106R	NEB_ENST00000409198.1_Missense_Mutation_p.S3106R|NEB_ENST00000397345.3_Missense_Mutation_p.S3349R|NEB_ENST00000427231.2_Missense_Mutation_p.S3349R|NEB_ENST00000604864.1_Missense_Mutation_p.S3349R|NEB_ENST00000603639.1_Missense_Mutation_p.S3349R			P20929	NEBU_HUMAN	nebulin	3106					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)		AGTCCACATCGCTGACTAAGG	0.537																																					p.S3349R		.											.	NEB-145	0			c.C10047A						.						328	323	325					2																	152484133		2130	4222	6352	SO:0001583	missense	4703	exon69			CACATCGCTGACT	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.9318C>A	2.37:g.152484133G>T	ENSP00000172853:p.Ser3106Arg	Somatic	304	0		WXS	Illumina GAIIx	Phase_I	373	32	NM_001271208	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	14.45	2.539592	0.45176	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.58	-5.18	0.02840	.	0.040861	0.85682	D	0.000000	T	0.65322	0.2680	M	0.85945	2.785	0.80722	D	1	D	0.69078	0.997	D	0.65684	0.937	T	0.74256	-0.3724	10	0.87932	D	0	.	16.2775	0.82651	0.4856:0.0:0.5144:0.0	.	3106	P20929	NEBU_HUMAN	R	3106;3349;3349;3106	ENSP00000386259:S3106R;ENSP00000380505:S3349R;ENSP00000416578:S3349R;ENSP00000172853:S3106R	ENSP00000172853:S3106R	S	-	3	2	NEB	152192379	0.932000	0.31603	0.516000	0.27786	0.249000	0.25844	0.145000	0.16157	-0.772000	0.04602	-1.074000	0.02243	AGC	.		0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152484133	G	T	152484133	3	4	8	1	0	0	0	0	1	0	0	0	10341	1078	38	2	16095	2	NEB	2	152484133	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	20964279	152484133	90715240	26	1405											
KCNH7	90134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	163693261	163693261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcactctggcatttgcAatgataaattttttatctgt	6	7	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:163693261A>C	ENST00000332142.5	-	2	192	c.93T>G	c.(91-93)atT>atG	p.I31M	KCNH7_ENST00000328032.4_Missense_Mutation_p.I31M	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	31					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)	TGGCATTTGCAATGATAAATT	0.388																																					p.I31M	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7-95	0			c.T93G						.						51	47	48					2																	163693261		2203	4300	6503	SO:0001583	missense	90134	exon2			ATTTGCAATGATA	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.93T>G	2.37:g.163693261A>C	ENSP00000331727:p.Ile31Met	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	61	41	NM_033272	0	0	0	0	0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355022	0.61293	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99695	-6.43;-6.43	6.08	2.44	0.29823	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.80746	2.51	0.38799	D	0.955164	D;D	0.69078	0.997;0.987	D;D	0.87578	0.998;0.991	D	0.99764	1.1022	10	0.87932	D	0	.	9.2475	0.37536	0.7961:0.0:0.2039:0.0	.	31;31	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	M	31	ENSP00000331727:I31M;ENSP00000333781:I31M	ENSP00000333781:I31M	I	-	3	3	KCNH7	163401507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.080000	0.41586	0.190000	0.20209	0.533000	0.62120	ATT	.		0.388	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163693261	A	C	163693261	3	2	8	1	0	0	0	0	1	0	0	0	8064	126	5	5	3623	5	KCNH7	2	163693261	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	11209128	163693261	79506112	27	1406											
HECW2	57520	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	197122592	197122592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcttgaaaggcgcaccaatCctggagtcccttcagttcgg	11	13	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:197122592C>A	ENST00000260983.3	-	18	3556	c.3374G>T	c.(3373-3375)gGa>gTa	p.G1125V	AC020571.3_ENST00000605907.1_RNA|AC020571.3_ENST00000433933.1_RNA|AC020571.3_ENST00000430904.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.G769V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1125					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.G1125E(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						GCGCACCAATCCTGGAGTCCC	0.418																																					p.G1125V		.											.	HECW2-668	1	Substitution - Missense(1)	lung(1)	c.G3374T						.						130	109	116					2																	197122592		2203	4300	6503	SO:0001583	missense	57520	exon18			ACCAATCCTGGAG	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.3374G>T	2.37:g.197122592C>A	ENSP00000260983:p.Gly1125Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	116	9	NM_020760	0	0	0	0	0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320108	0.81469	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.86097	-2.07;-2.07	5.55	5.55	0.83447	.	0.117087	0.64402	D	0.000018	D	0.88396	0.6425	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53954	0.738	D	0.89140	0.3516	10	0.87932	D	0	.	16.5241	0.84326	0.0:1.0:0.0:0.0	.	1125	Q9P2P5	HECW2_HUMAN	V	769;1125	ENSP00000386775:G769V;ENSP00000260983:G1125V	ENSP00000260983:G1125V	G	-	2	0	HECW2	196830837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.049000	0.57397	2.890000	0.99128	0.585000	0.79938	GGA	.		0.418	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197122592	C	A	197122592	3	1	8	1	0	0	0	0	1	0	0	0	7070	855	30	3	1392	3	HECW2	2	197122592	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	33429331	197122592	46076781	28	1407											
CCDC150	284992	hgsc.bcm.edu	37	chr2	197531518	197531519	+	Frame_Shift_Ins	INS	-	-	A													agaactactggcccaggaacINSaaaaaaaaaaagaagagttg					rs75642251|rs376590781		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:197531518_197531519insA	ENST00000389175.4	+	7	973_974	c.838_839insA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCCAGGAACAAAAAAAAAAA	0.371																																					p.Q280fs		.											.	.	0			c.838_839insA						.																																			SO:0001589	frameshift_variant	284992	exon7			CAGGAACAAAAAA		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.849dupA	2.37:g.197531529_197531529dupA	ENSP00000373827:p.Gln280fs	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	216	0	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Ins	INS	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.371	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		A	197531519	-	A	197531518	7	5	8	1	0	1	1	0	0	0	0	0	2792	479	17	0	864	0	CCDC150	2	197531518	Frame_Shift_Ins	INS	-	TCGA-OR-A5J8-01A-11D-A29I-10	408926	197531518	45667855	29	1408											
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	198281581	198281581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacgctgctgctccattgaCgacttttagttctccagctt	9	12	1	1	rs139823279		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:198281581C>A	ENST00000335508.6	-	6	641	c.550G>T	c.(550-552)Gtc>Ttc	p.V184F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	184					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)			GCTCCATTGACGACTTTTAGT	0.428			Mis		myelodysplastic syndrome																																p.V184F		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	.	SF3B1-140	0			c.G550T						.						176	170	172					2																	198281581		2203	4300	6503	SO:0001583	missense	23451	exon6			CATTGACGACTTT	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.550G>T	2.37:g.198281581C>A	ENSP00000335321:p.Val184Phe	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	60	35	NM_012433	0	0	2	19	17	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299923	0.81136	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	L	0.52573	1.65	0.80722	D	1	P	0.36944	0.574	B	0.32677	0.15	T	0.58526	-0.7621	9	0.54805	T	0.06	.	19.0485	0.93032	0.0:1.0:0.0:0.0	.	184	O75533	SF3B1_HUMAN	F	184	.	ENSP00000335321:V184F	V	-	1	0	SF3B1	197989826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.562000	0.82300	2.736000	0.93811	0.579000	0.79373	GTC	C|1.000;T|0.000		0.428	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198281581	C	A	198281581	3	1	8	1	0	0	0	0	1	0	0	0	14194	536	19	2	3444	2	SF3B1	2	198281581	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	750063	198281581	44917792	30	1409											
ADAM23	8745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207454139	207454139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatctccaaaagaggctgCagggtctgacaagttctgct	10	11	3	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:207454139C>A	ENST00000264377.3	+	21	2187	c.1859C>A	c.(1858-1860)gCa>gAa	p.A620E	ADAM23_ENST00000374416.1_Missense_Mutation_p.A620E|ADAM23_ENST00000374415.3_Missense_Mutation_p.A620E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	620					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAAGAGGCTGCAGGGTCTGAC	0.438																																					p.A620E	Melanoma(194;1127 2130 19620 24042 27855)	.											.	ADAM23-228	0			c.C1859A						.						61	59	59					2																	207454139		2203	4300	6503	SO:0001583	missense	8745	exon21			AGGCTGCAGGGTC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1859C>A	2.37:g.207454139C>A	ENSP00000264377:p.Ala620Glu	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	66	47	NM_003812	0	0	0	0	0	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426987	0.43122	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20598	2.06;2.06;2.06	5.72	5.72	0.89469	ADAM, cysteine-rich (2);	0.452344	0.20464	N	0.091823	T	0.19248	0.0462	N	0.21142	0.635	0.40845	D	0.983709	B	0.14012	0.009	B	0.25759	0.063	T	0.08371	-1.0725	10	0.25106	T	0.35	.	19.8709	0.96851	0.0:1.0:0.0:0.0	.	620	O75077	ADA23_HUMAN	E	620;620;514;620	ENSP00000264377:A620E;ENSP00000363537:A620E;ENSP00000363536:A620E	ENSP00000264377:A620E	A	+	2	0	ADAM23	207162384	1.000000	0.71417	0.966000	0.40874	0.965000	0.64279	3.912000	0.56386	2.698000	0.92095	0.591000	0.81541	GCA	.		0.438	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		A	207454139	C	A	207454139	3	1	8	1	0	0	0	0	1	0	0	0	245	710	25	3	1941	3	ADAM23	2	207454139	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	9172558	207454139	35745234	31	1410											
ABCA12	26154	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	215866333	215866333	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagcctctctctccatttCatctatggtttttgctgcct	5	12	4	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:215866333C>A	ENST00000272895.7	-	21	3031	c.2812G>T	c.(2812-2814)Gaa>Taa	p.E938*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E620*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	938					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.E938K(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)		CTCTCCATTTCATCTATGGTT	0.388																																					p.E938X	Ovarian(66;664 1488 5121 34295)	.											.	ABCA12-99	1	Substitution - Missense(1)	central_nervous_system(1)	c.G2812T						.						188	179	182					2																	215866333		2203	4300	6503	SO:0001587	stop_gained	26154	exon21			CCATTTCATCTAT	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.2812G>T	2.37:g.215866333C>A	ENSP00000272895:p.Glu938*	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	116	7	NM_173076	0	0	0	0	0	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	40	8.232141	0.98717	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.77	4.9	0.64082	.	0.083518	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	14.8116	0.70000	0.0:0.9309:0.0:0.0691	.	.	.	.	X	938;620	.	ENSP00000272895:E938X	E	-	1	0	ABCA12	215574578	0.990000	0.36364	0.951000	0.38953	0.979000	0.70002	2.891000	0.48617	1.451000	0.47736	0.561000	0.74099	GAA	.		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215866333	C	A	215866333	4	1	8	1	0	0	0	0	0	1	0	0	30	835	29	3	5107	3	ABCA12	2	215866333	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8412194	215866333	27333040	32	1411											
SMARCAL1	50485	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	217332761	217332761	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgcaattacgcaagagcttGagagaaaggtgagctccctt	11	9	0	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:217332761G>T	ENST00000357276.4	+	14	2566	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.E746*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	746	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		GCAAGAGCTTGAGAGAAAGGT	0.448									Schimke Immuno-Osseous Dysplasia																												p.E746X		.											.	SMARCAL1-293	0			c.G2236T						.						119	113	115					2																	217332761		2203	4300	6503	SO:0001587	stop_gained	50485	exon14	Familial Cancer Database	SIOD	GAGCTTGAGAGAA	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.2236G>T	2.37:g.217332761G>T	ENSP00000349823:p.Glu746*	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	70	49	NM_014140	0	0	0	0	0	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708894	0.98447	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	.	.	.	4.85	4.85	0.62838	.	0.226759	0.44285	D	0.000475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-28.4524	12.5871	0.56424	0.0821:0.0:0.9179:0.0	.	.	.	.	X	746;746;588	.	ENSP00000349823:E746X	E	+	1	0	SMARCAL1	217041006	1.000000	0.71417	0.957000	0.39632	0.270000	0.26580	3.255000	0.51484	2.529000	0.85273	0.655000	0.94253	GAG	.		0.448	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			T	217332761	G	T	217332761	4	4	8	1	0	0	0	0	0	1	0	0	14818	1291	45	3	2282	3	SMARCAL1	2	217332761	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1466428	217332761	25866612	33	1412											
PPP1R7	5510	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	242092956	242092956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacacagcagtggcatcGtggccgacctcagtgaacag	12	11	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr2:242092956G>A	ENST00000234038.6	+	2	592	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	PPP1R7_ENST00000407025.1_Missense_Mutation_p.V40M|PPP1R7_ENST00000404405.3_Missense_Mutation_p.V40M|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000406106.3_Missense_Mutation_p.V40M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	40					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAGTGGCATCGTGGCCGACCT	0.572																																					p.V40M	NSCLC(62;446 1299 5417 11238 27640)	.											.	PPP1R7-660	0			c.G118A						.						110	102	104					2																	242092956		2203	4300	6503	SO:0001583	missense	5510	exon2			GGCATCGTGGCCG	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.118G>A	2.37:g.242092956G>A	ENSP00000234038:p.Val40Met	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	185	10	NM_002712	0	0	69	78	9	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747150	0.49257	.	.	ENSG00000115685	ENST00000438799;ENST00000407025;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000427172	T;T;T;T;T;T;T	0.52983	0.78;0.64;0.64;0.87;1.07;1.08;1.23	4.61	4.61	0.57282	.	0.215289	0.38548	N	0.001641	T	0.45657	0.1353	N	0.08118	0	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	P;P;P;P	0.62740	0.807;0.735;0.906;0.807	T	0.50996	-0.8761	10	0.34782	T	0.22	-28.98	15.6297	0.76893	0.0:0.0:1.0:0.0	.	24;40;40;40	C9JD73;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	M	24;40;40;40;40;40;49	ENSP00000396376:V24M;ENSP00000385657:V40M;ENSP00000234038:V40M;ENSP00000385498:V40M;ENSP00000409719:V40M;ENSP00000385022:V40M;ENSP00000397985:V49M	ENSP00000234038:V40M	V	+	1	0	PPP1R7	241741629	1.000000	0.71417	0.422000	0.26621	0.010000	0.07245	4.464000	0.60134	2.115000	0.64714	0.561000	0.74099	GTG	.		0.572	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		A	242092956	G	A	242092956	3	1	8	1	0	0	0	0	1	0	0	0	12418	1145	40	1	124	1	PPP1R7	2	242092956	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	24760195	242092956	1106417	34	1413											
BTD	686	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	15683552	15683552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcctggagcctcaccgcttCaatgacacagaggtgattcc	10	13	2	3	rs574575635		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:15683552C>A	ENST00000303498.5	+	3	556	c.447C>A	c.(445-447)ttC>ttA	p.F149L	BTD_ENST00000449107.1_Missense_Mutation_p.F151L|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000383778.4_Missense_Mutation_p.F129L|BTD_ENST00000437172.1_Missense_Mutation_p.F151L	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	149	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTCACCGCTTCAATGACACAG	0.478																																					p.F149L		.											.	BTD-90	0			c.C447A						.						97	78	85					3																	15683552		2203	4300	6503	SO:0001583	missense	686	exon3			CCGCTTCAATGAC	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.447C>A	3.37:g.15683552C>A	ENSP00000306477:p.Phe149Leu	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	115	26	NM_000060	0	0	11	14	3	A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717665	0.68844	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.22;-2.5	5.82	4.95	0.65309	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.196398	0.53938	D	0.000046	D	0.90755	0.7098	M	0.83953	2.67	0.52099	D	0.99994	P;P;P	0.49358	0.923;0.923;0.923	P;P;P	0.49799	0.622;0.622;0.622	D	0.88732	0.3237	10	0.22706	T	0.39	-2.086	10.8627	0.46835	0.0:0.8568:0.0:0.1432	.	151;151;149	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	L	151;149;151;129;129	ENSP00000388212:F151L;ENSP00000306477:F149L;ENSP00000400995:F151L;ENSP00000394277:F129L;ENSP00000373288:F129L	ENSP00000306477:F149L	F	+	3	2	BTD	15658556	1.000000	0.71417	0.925000	0.36789	0.506000	0.33950	3.308000	0.51896	1.468000	0.48064	0.561000	0.74099	TTC	.		0.478	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		A	15683552	C	A	15683552	3	1	8	1	0	0	0	0	1	0	0	0	1554	825	29	3	457	3	BTD	3	15683552	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		15683552	182338878	35	1414											
DLEC1	9940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	38105387	38105387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattgggtttttcacagatTatgaaattggtccagtttat	8	5	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:38105387T>C	ENST00000308059.6	+	6	1171	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	DLEC1_ENST00000346219.3_Missense_Mutation_p.Y384H|DLEC1_ENST00000452631.2_Missense_Mutation_p.Y384H|DLEC1_ENST00000469151.1_3'UTR					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)		TTTCACAGATTATGAAATTGG	0.383																																					p.Y384H		.											.	DLEC1-161	0			c.T1150C						.						173	163	166					3																	38105387		1834	4088	5922	SO:0001583	missense	9940	exon6			ACAGATTATGAAA	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.1150T>C	3.37:g.38105387T>C	ENSP00000308597:p.Tyr384His	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	110	17	NM_007337	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645842	0.67358	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.13778	2.57;2.56;2.8	4.67	4.67	0.58626	.	0.064498	0.64402	D	0.000005	T	0.36054	0.0953	M	0.78637	2.42	0.47547	D	0.999459	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.994;0.996	T	0.14699	-1.0463	10	0.72032	D	0.01	-13.6962	10.426	0.44378	0.0:0.0:0.0:1.0	.	384;384;384;384	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	H	384	ENSP00000308597:Y384H;ENSP00000315914:Y384H;ENSP00000410427:Y384H	ENSP00000308597:Y384H	Y	+	1	0	DLEC1	38080391	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.241000	0.58707	1.949000	0.56562	0.528000	0.53228	TAT	.		0.383	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		C	38105387	T	C	38105387	3	2	8	1	0	0	0	0	1	0	0	0	4566	1754	61	4	1172	4	DLEC1	3	38105387	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	22421835	38105387	159917043	36	1415											
PROK2	60675	hgsc.bcm.edu	37	chr3	71834135	71834135	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcacggcggcgtccccagcGcggggcgtgagcagcagcgg	18	14	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:71834135G>T	ENST00000295619.3	-	1	77	c.69C>A	c.(67-69)cgC>cgA	p.R23R	PROK2_ENST00000353065.3_Silent_p.R23R	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	23					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		CGTCCCCAGCGCGGGGCGTGA	0.756																																					p.R23R		.											.	PROK2-90	0			c.C69A						.						3	4	4					3																	71834135		1498	3014	4512	SO:0001819	synonymous_variant	60675	exon1			CCCAGCGCGGGGC	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.69C>A	3.37:g.71834135G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	48	25	NM_001126128	0	0	0	0	0	Q53Z79|Q6ISR0	Silent	SNP	ENST00000295619.3	37	CCDS46868.1																																																																																			.		0.756	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		T	71834135	G	T	71834135	2	4	8	1	0	0	0	0	0	0	0	1	12593	1074	38	2		2	PROK2	3	71834135	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	33728748	71834135	126188295	37	1416											
CHST13	166012	hgsc.bcm.edu	37	chr3	126260630	126260630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcgcgacctgctgaacAgcgcctgtagccgccactca	12	16	1	1	rs12495696	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:126260630A>G	ENST00000319340.2	+	3	285	c.235A>G	c.(235-237)Agc>Ggc	p.S79G		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	79					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCTGCTGAACAGCGCCTGTAG	0.716													A|||	442	0.0882588	0.0499	0.0879	5008	,	,		8598	0.1042		0.0626	False		,,,				2504	0.1503				p.S79G		.											.	CHST13-90	0			c.A235G						.	A	GLY/SER	169,4005		1,167,1919	9	8	8		235	-2.8	0.8	3	dbSNP_120	8	288,7872		3,282,3795	no	missense	CHST13	NM_152889.2	56	4,449,5714	GG,GA,AA		3.5294,4.0489,3.7052	benign	79/342	126260630	457,11877	2087	4080	6167	SO:0001583	missense	166012	exon3			CTGAACAGCGCCT	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.235A>G	3.37:g.126260630A>G	ENSP00000317404:p.Ser79Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	30	23	NM_152889	0	0	0	0	0	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	137	0.06272893772893773	23	0.046747967479674794	25	0.06906077348066299	41	0.07167832167832168	48	0.0633245382585752	A	10.08	1.252004	0.22880	0.040489	0.035294	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.68331	-0.32	4.84	-2.85	0.05734	.	0.448844	0.21668	N	0.070917	T	0.05318	0.0141	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B	0.22480	0.07	B	0.24974	0.057	T	0.04373	-1.0956	9	0.40728	T	0.16	-12.1141	5.2514	0.15524	0.6241:0.184:0.1095:0.0824	rs12495696	79	Q8NET6	CHSTD_HUMAN	G	79	ENSP00000317404:S79G	ENSP00000317404:S79G	S	+	1	0	CHST13	127743320	0.989000	0.36119	0.763000	0.31416	0.782000	0.44232	1.632000	0.37102	-0.572000	0.06006	-0.619000	0.04042	AGC	A|0.936;G|0.064		0.716	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		G	126260630	A	G	126260630	3	3	8	1	0	0	0	0	1	0	0	0	3408	188	7	4	245	4	CHST13	3	126260630	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	54426495	126260630	71761800	38	1417											
RUVBL1	8607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	127842496	127842496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccgctctcgtccagcccCagccctttcacgtggctgtg	10	17	2	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:127842496C>A	ENST00000322623.5	-	1	171	c.72G>T	c.(70-72)ctG>ctT	p.L24L	RUVBL1_ENST00000417360.1_Silent_p.L24L|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	24					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CGTCCAGCCCCAGCCCTTTCA	0.637																																					p.L24L		.											.	RUVBL1-227	0			c.G72T						.						45	45	45					3																	127842496		2203	4300	6503	SO:0001819	synonymous_variant	8607	exon1			CAGCCCCAGCCCT	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.72G>T	3.37:g.127842496C>A		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	104	12	NM_003707	0	0	19	20	1	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	ENST00000322623.5	37	CCDS3047.1																																																																																			.		0.637	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			A	127842496	C	A	127842496	2	1	8	1	0	0	0	0	0	0	0	1	13797	581	21	3		3	RUVBL1	3	127842496	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1581866	127842496	70179934	39	1418											
HLTF	6596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	148763946	148763946	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtgtaatgtgctgaaTaaatactttacgttctggta	9	4	1	2	rs137866464		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:148763946T>A	ENST00000310053.5	-	18	2186	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F	HLTF_ENST00000494055.1_Missense_Mutation_p.I665F|HLTF_ENST00000392912.2_Missense_Mutation_p.I665F|HLTF_ENST00000465259.1_Missense_Mutation_p.I664F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	665					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGTGCTGAATAAATACTTTA	0.343																																					p.I665F		.											.	HLTF-659	0			c.A1993T						.						108	107	107					3																	148763946		2203	4296	6499	SO:0001583	missense	6596	exon18			GCTGAATAAATAC	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1993A>T	3.37:g.148763946T>A	ENSP00000308944:p.Ile665Phe	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	121	83	NM_139048	0	0	0	4	4	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034175	0.75617	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.74	5.74	0.90152	SNF2-related (1);	.	.	.	.	D	0.96531	0.8868	M	0.80028	2.48	0.48511	D	0.999664	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74674	0.984;0.976;0.955	D	0.96980	0.9714	9	0.72032	D	0.01	-23.3577	15.0224	0.71640	0.0:0.0:0.0:1.0	.	665;665;665	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	F	664;665;665;665;129	ENSP00000420745:I664F;ENSP00000308944:I665F;ENSP00000376644:I665F;ENSP00000420429:I665F;ENSP00000420106:I129F	ENSP00000308944:I665F	I	-	1	0	HLTF	150246636	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.636000	0.54317	2.174000	0.68829	0.528000	0.53228	ATT	T|1.000;C|0.000		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			A	148763946	T	A	148763946	3	1	8	1	0	0	0	0	1	0	0	0	7242	1406	49	5	1068	5	HLTF	3	148763946	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	20921450	148763946	49258484	40	1419											
RNF13	11342	bcgsc.ca	37	chr3	149678534	149678534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttcaacagcttatcaCtgcaagtgtgtagacccttg	8	10	2	1	rs6768054	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:149678534C>T	ENST00000344229.3	+	11	1491	c.789C>T	c.(787-789)caC>caT	p.H263H	RNF13_ENST00000361785.6_Silent_p.H144H|RNF13_ENST00000392894.3_Silent_p.H263H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	263					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGCTTATCACTGCAAGTGTG	0.373													C|||	3349	0.66873	0.4501	0.7176	5008	,	,		16979	0.8661		0.7068	False		,,,				2504	0.6871				p.H263H		.											.	RNF13-227	0			c.C789T						.	C	,	2057,2349	564.5+/-381.5	502,1053,648	55	54	54		789,789	1.1	1	3	dbSNP_116	54	5891,2709	680.7+/-403.7	2042,1807,451	no	coding-synonymous,coding-synonymous	RNF13	NM_007282.4,NM_183381.2	,	2544,2860,1099	TT,TC,CC		31.5,46.6863,38.8897	,	263/382,263/382	149678534	7948,5058	2203	4300	6503	SO:0001819	synonymous_variant	11342	exon11			TTATCACTGCAAG	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.789C>T	3.37:g.149678534C>T		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	207	11	NM_007282	0	0	0	0	0	A6NC87|B3KR12|Q05D66|Q6IBJ9	Silent	SNP	ENST00000344229.3	37	CCDS3146.1																																																																																			C|0.360;T|0.640		0.373	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		T	149678534	C	T	149678534	2	4	8	1	0	0	0	0	0	0	0	1	13482	564	20	3		3	RNF13	3	149678534	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	914588	149678534	48343896	41	1420											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	13	NM_014779	0	0	0	1	1	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	8	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	449858	150128392	47894038	42	1421											
CLCN2	1181	broad.mit.edu;ucsc.edu	37	chr3	184075805	184075805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagcccaatgaccttaGctataaaggtcttgagtgtg	11	8	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:184075805G>T	ENST00000265593.4	-	5	731	c.560C>A	c.(559-561)gCt>gAt	p.A187D	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.A143D|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.A187D|CLCN2_ENST00000344937.7_Missense_Mutation_p.A187D	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	187					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AATGACCTTAGCTATAAAGGT	0.562																																					p.A187D		.											.	CLCN2-90	0			c.C560A						.						81	76	78					3																	184075805		2203	4300	6503	SO:0001583	missense	1181	exon5			ACCTTAGCTATAA	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.560C>A	3.37:g.184075805G>T	ENSP00000265593:p.Ala187Asp	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	125	18	NM_001171087	0	0	1	1	0	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.497253	0.85069	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.45	4.45	0.53987	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.995;0.966;0.997	D	0.99246	1.0886	10	0.87932	D	0	-11.8071	16.8755	0.86051	0.0:0.0:1.0:0.0	.	187;143;187;187;187	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	D	187;187;143;187	ENSP00000265593:A187D;ENSP00000345056:A187D;ENSP00000400425:A143D;ENSP00000391928:A187D	ENSP00000265593:A187D	A	-	2	0	CLCN2	185558499	1.000000	0.71417	0.967000	0.41034	0.867000	0.49689	9.640000	0.98453	2.308000	0.77769	0.462000	0.41574	GCT	.		0.562	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			T	184075805	G	T	184075805	3	4	8	1	0	0	0	0	1	0	0	0	3470	971	34	3	2216	3	CLCN2	3	184075805	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	33947413	184075805	13946625	43	1422											
CLDN1	9076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	190039777	190039777	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgggggtgcactcactgctCagattcagcaaggagtcaaa	13	9	4	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:190039777C>A	ENST00000295522.3	-	1	487	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	73					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)		ACTCACTGCTCAGATTCAGCA	0.597																																					p.L73L		.											.	CLDN1-91	0			c.G219T						.						69	64	66					3																	190039777		2203	4300	6503	SO:0001819	synonymous_variant	9076	exon1			ACTGCTCAGATTC	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.219G>T	3.37:g.190039777C>A		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	130	72	NM_021101	0	0	0	0	0		Silent	SNP	ENST00000295522.3	37	CCDS3295.1																																																																																			.		0.597	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		A	190039777	C	A	190039777	2	1	8	1	0	0	0	0	0	0	0	1	3478	813	29	3		3	CLDN1	3	190039777	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	5963972	190039777	7982653	44	1423											
ATP13A5	344905	broad.mit.edu	37	chr3	193042730	193042731	+	Frame_Shift_Ins	INS	-	-	G													agaaggatcagagagtggcaINSgctggccatggccgcacaca							TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr3:193042730_193042731insG	ENST00000342358.4	-	14	1713_1714	c.1596_1597insC	c.(1594-1599)agctgcfs	p.C533fs		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	533						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)		AGAGAGTGGCAGCTGGCCATGG	0.535																																					p.C533fs		.											.	ATP13A5-144	0			c.1597_1598insC						.																																			SO:0001589	frameshift_variant	344905	exon14			AGTGGCAGCTGGC	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.1597dupC	3.37:g.193042731_193042731dupG	ENSP00000341942:p.Cys533fs	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	137	7	NM_198505	0	0	0	0	0	Q6UWS4|Q6ZWL0	Frame_Shift_Ins	INS	ENST00000342358.4	37	CCDS33914.1																																																																																			.		0.535	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		G	193042731	-	G	193042730	7	5	8	1	0	1	1	0	0	0	0	0	1128	188	7	0	2125	0	ATP13A5	3	193042730	Frame_Shift_Ins	INS	-	TCGA-OR-A5J8-01A-11D-A29I-10	3002953	193042730	4979700	45	1424											
CC2D2A	57545	broad.mit.edu	37	chr4	15516455	15516455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccatgatcggctgcagatGgaaagagaaatgctcttcat	10	8	2	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:15516455G>T	ENST00000503292.1	+	10	1023	c.843G>T	c.(841-843)atG>atT	p.M281I	CC2D2A_ENST00000389652.5_Missense_Mutation_p.M232I|CC2D2A_ENST00000413206.1_Missense_Mutation_p.M281I|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.M281I	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	281					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGCTGCAGATGGAAAGAGAAA	0.433																																					p.M281I		.											.	CC2D2A-25	0			c.G843T						.						189	186	187					4																	15516455		1943	4149	6092	SO:0001583	missense	57545	exon10			GCAGATGGAAAGA	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.843G>T	4.37:g.15516455G>T	ENSP00000421809:p.Met281Ile	Somatic	76	1		WXS	Illumina GAIIx	Phase_I	133	8	NM_001080522	0	0	0	0	0	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542132	0.27563	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.76	4.92	0.64577	.	0.577879	0.18073	N	0.152552	T	0.11836	0.0288	N	0.08118	0	0.80722	D	1	B;B	0.24132	0.098;0.045	B;B	0.28305	0.088;0.056	T	0.09930	-1.0652	10	0.49607	T	0.09	.	9.1759	0.37112	0.1649:0.0:0.8351:0.0	.	281;232	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	I	281;281;232;232;281;281;232	ENSP00000403465:M281I;ENSP00000398391:M281I;ENSP00000422875:M281I;ENSP00000421809:M281I;ENSP00000374303:M232I	ENSP00000374303:M232I	M	+	3	0	CC2D2A	15125553	0.979000	0.34478	0.867000	0.34043	0.011000	0.07611	1.334000	0.33827	2.726000	0.93360	0.655000	0.94253	ATG	.		0.433	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15516455	G	T	15516455	3	4	8	1	0	0	0	0	1	0	0	0	2735	1348	47	3	1076	3	CC2D2A	4	15516455	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		15516455	175637821	46	1425											
FGFBP2	83888	broad.mit.edu;bcgsc.ca	37	chr4	15964327	15964327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggcgtcccagcctcaggCtgctggttgggctctgggct	16	12	2	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:15964327C>A	ENST00000259989.6	-	1	532	c.426G>T	c.(424-426)caG>caT	p.Q142H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	142						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCCTCAGGCTGCTGGTTGG	0.617																																					p.Q142H		.											.	FGFBP2-22	0			c.G426T						.						79	74	76					4																	15964327		2203	4300	6503	SO:0001583	missense	83888	exon1			CTCAGGCTGCTGG	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.426G>T	4.37:g.15964327C>A	ENSP00000259989:p.Gln142His	Somatic	48	1		WXS	Illumina GAIIx	Phase_I	56	45	NM_031950	0	0	0	0	0		Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003847	0.07773	.	.	ENSG00000137441	ENST00000259989	T	0.14640	2.49	2.98	-1.25	0.09405	.	1.640020	0.03929	N	0.284865	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34875	-0.9811	10	0.33141	T	0.24	-0.7762	5.6911	0.17831	0.0:0.3323:0.3812:0.2865	.	142	Q9BYJ0	FGFP2_HUMAN	H	142	ENSP00000259989:Q142H	ENSP00000259989:Q142H	Q	-	3	2	FGFBP2	15573425	0.012000	0.17670	0.019000	0.16419	0.008000	0.06430	-0.241000	0.08940	-0.199000	0.10317	-0.153000	0.13522	CAG	.		0.617	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		A	15964327	C	A	15964327	3	1	8	1	0	0	0	0	1	0	0	0	5883	796	28	3	249	3	FGFBP2	4	15964327	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	447872	15964327	175189949	47	1426											
SOD3	6649	hgsc.bcm.edu	37	chr4	24801354	24801354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagccgtcggccacgCtggacgccgcgcagccccgg	16	17	0	0	rs8192291	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:24801354C>T	ENST00000382120.3	+	2	416	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	71					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GTCGGCCACGCTGGACGCCGC	0.726													C|||	994	0.198482	0.0968	0.1585	5008	,	,		11823	0.3512		0.2028	False		,,,				2504	0.2025				p.L71L		.											.	SOD3-90	0			c.C211T						.	C		341,3293		12,317,1488	4	5	5		211	0.7	0	4	dbSNP_117	5	1103,6325		63,977,2674	no	coding-synonymous	SOD3	NM_003102.2		75,1294,4162	TT,TC,CC		14.8492,9.3836,13.0537		71/241	24801354	1444,9618	1817	3714	5531	SO:0001819	synonymous_variant	6649	exon2			GCCACGCTGGACG		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.211C>T	4.37:g.24801354C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	18	NM_003102	0	0	0	12	12	Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	CCDS3430.1																																																																																			C|0.777;T|0.223		0.726	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			T	24801354	C	T	24801354	2	4	8	1	0	0	0	0	0	0	0	1	14967	796	28	3		3	SOD3	4	24801354	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8837027	24801354	166352922	48	1427											
RBM47	54502	hgsc.bcm.edu	37	chr4	40440854	40440854	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgccctcgggcaccttggcGgaggacccggcggccgagtc	16	16	0	0	rs1052153	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000295971.7_Silent_p.S19S|RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.S19S|RBM47_ENST00000514014.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					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						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8	9	9		57,57	-7.6	0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	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.57C>G	4.37:g.40440854G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001098634	0	0	0	1	1	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440854	G	C	40440854	2	2	8	1	0	0	0	0	0	0	0	1	13186	1103	39	2		2	RBM47	4	40440854	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	15639500	40440854	150713422	49	1428											
UGT2B15	7367	broad.mit.edu;bcgsc.ca	37	chr4	69417567	69417567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattctggggtaaccaCttatacagtcgagtattgga	11	7	2	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:69417567C>T	ENST00000317746.2	-	4	1110	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	356					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)	GGGGTAACCACTTATACAGTC	0.348																																					p.K356K	Melanoma(18;649 833 28984 37818 38500)	.											.	UGT2B17-91	0			c.G1068A						.						96	83	87					4																	69417567		2089	3919	6008	SO:0001819	synonymous_variant	7367	exon4			TAACCACTTATAC	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.1068G>A	4.37:g.69417567C>T		Somatic	370	0		WXS	Illumina GAIIx	Phase_I	321	12	NM_001077	0	0	0	0	0		Silent	SNP	ENST00000317746.2	37	CCDS3523.1																																																																																			.		0.348	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		T	69417567	C	T	69417567	2	4	8	1	0	0	0	0	0	0	0	1	17007	564	20	3		3	UGT2B15	4	69417567	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	28976713	69417567	121736709	50	1429											
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77662248	77662248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggagccccgaggcgtcGgcctccgcctccccgcacac	12	21	0	0	rs344142	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:77662248G>A	ENST00000296043.6	+	5	3875	c.2922G>A	c.(2920-2922)tcG>tcA	p.S974S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	974	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			CCGAGGCGTCGGCCTCCGCCT	0.776													G|||	2165	0.432308	0.4054	0.4827	5008	,	,		9965	0.2669		0.6044	False		,,,				2504	0.4264				p.S974S		.											.	SHROOM3-93	0			c.G2922A						.	G		1740,1410		550,640,385	2	3	3		2922	0.4	0	4	dbSNP_129	3	4503,2047		1663,1177,435	no	coding-synonymous	SHROOM3	NM_020859.3		2213,1817,820	AA,AG,GG		31.2519,44.7619,35.6392		974/1997	77662248	6243,3457	1575	3275	4850	SO:0001819	synonymous_variant	57619	exon5			GGCGTCGGCCTCC	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.2922G>A	4.37:g.77662248G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																			G|0.531;A|0.469		0.776	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77662248	G	A	77662248	2	1	8	1	0	0	0	0	0	0	0	1	14340	1103	39	1		1	SHROOM3	4	77662248	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	8244681	77662248	113492028	51	1430											
NUDT9	53343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	88372877	88372877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaactcttcagccaagAccacctagtggtaagaaata	7	11	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:88372877A>T	ENST00000302174.4	+	6	1103	c.779A>T	c.(778-780)gAc>gTc	p.D260V	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000473942.1_Missense_Mutation_p.D210V	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	260	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTCAGCCAAGACCACCTAGTG	0.403																																					p.D260V		.											.	NUDT9-90	0			c.A779T						.						94	94	94					4																	88372877		2203	4300	6503	SO:0001583	missense	53343	exon6			GCCAAGACCACCT	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.779A>T	4.37:g.88372877A>T	ENSP00000303575:p.Asp260Val	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	48	35	NM_024047	0	0	0	0	0	Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943559	0.18281	.	.	ENSG00000170502	ENST00000302174;ENST00000473942;ENST00000440591	T;T;T	0.14640	2.49;2.49;3.27	5.32	5.32	0.75619	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.530450	0.21374	N	0.075584	T	0.11153	0.0272	N	0.19112	0.55	0.46298	D	0.998978	B;B	0.20164	0.042;0.006	B;B	0.25614	0.062;0.034	T	0.09729	-1.0661	10	0.52906	T	0.07	-18.1714	12.9477	0.58382	1.0:0.0:0.0:0.0	.	260;260	Q96KB3;Q9BW91	.;NUDT9_HUMAN	V	260;210;228	ENSP00000303575:D260V;ENSP00000421811:D210V;ENSP00000410270:D228V	ENSP00000303575:D260V	D	+	2	0	NUDT9	88591901	1.000000	0.71417	0.845000	0.33349	0.196000	0.23810	5.014000	0.64029	2.148000	0.66965	0.477000	0.44152	GAC	.		0.403	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			T	88372877	A	T	88372877	3	4	8	1	0	0	0	0	1	0	0	0	10785	275	10	5	801	5	NUDT9	4	88372877	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	10710629	88372877	102781399	52	1431											
GSTCD	79807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	106746955	106746955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttactgggatgtttaatattGgagtaagtaatcaagtaatt	9	2	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:106746955G>T	ENST00000515279.1	+	8	1748	c.1528G>T	c.(1528-1530)Gga>Tga	p.G510*	RP11-45L9.1_ENST00000509003.1_RNA|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394728.3_Nonsense_Mutation_p.G510*|RP11-45L9.1_ENST00000504955.1_RNA|GSTCD_ENST00000360505.5_Nonsense_Mutation_p.G510*|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394730.3_Nonsense_Mutation_p.G423*			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	510						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GTTTAATATTGGAGTAAGTAA	0.274																																					p.G510X		.											.	GSTCD-92	0			c.G1528T						.						80	80	80					4																	106746955		1783	4054	5837	SO:0001587	stop_gained	79807	exon8			AATATTGGAGTAA	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1528G>T	4.37:g.106746955G>T	ENSP00000422354:p.Gly510*	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	81	48	NM_001031720	0	0	0	0	0	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Nonsense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	39	7.371436	0.98241	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.0865	19.0135	0.92884	0.0:0.0:1.0:0.0	.	.	.	.	X	423;510;510;510	.	ENSP00000353695:G510X	G	+	1	0	GSTCD	106966404	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.092000	0.94157	2.568000	0.86640	0.650000	0.86243	GGA	.		0.274	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		T	106746955	G	T	106746955	4	4	8	1	0	0	0	0	0	1	0	0	6862	1349	47	3	1554	3	GSTCD	4	106746955	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	18374078	106746955	84407321	53	1432											
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	111470691	111470691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgttttttaaggttactcCgttcctccgtgttagggttt	9	7	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:111470691C>A	ENST00000265162.5	+	16	2575	c.2233C>A	c.(2233-2235)Cgt>Agt	p.R745S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	745					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AAGGTTACTCCGTTCCTCCGT	0.388																																					p.R745S		.											.	ENPEP-157	0			c.C2233A						.						118	117	117					4																	111470691		2203	4300	6503	SO:0001583	missense	2028	exon16			TTACTCCGTTCCT	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2233C>A	4.37:g.111470691C>A	ENSP00000265162:p.Arg745Ser	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	108	33	NM_001977	0	0	0	0	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341433	0.81911	.	.	ENSG00000138792	ENST00000265162	T	0.10668	2.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58154	-0.7686	10	0.87932	D	0	.	19.2627	0.93974	0.0:1.0:0.0:0.0	.	745	Q07075	AMPE_HUMAN	S	745	ENSP00000265162:R745S	ENSP00000265162:R745S	R	+	1	0	ENPEP	111690140	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.653000	0.54446	2.549000	0.85964	0.650000	0.86243	CGT	.		0.388	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111470691	C	A	111470691	3	1	8	1	0	0	0	0	1	0	0	0	5144	652	23	2	2295	2	ENPEP	4	111470691	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	4723736	111470691	79683585	54	1433											
C4orf32	132720	hgsc.bcm.edu	37	chr4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcggcagggaccgGgtgggatcccggggcgagcc	23	11	0	0	rs10002700	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1	1	5008	,	,		5782	1		0.996	False		,,,				2504	1				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3	5	4		95	2	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_152400	0	0	0	3	3	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066831	G	A	113066831	3	1	8	1	0	0	0	0	1	0	0	0	2269	1232	43	3	97	3	C4orf32	4	113066831	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1596140	113066831	78087445	55	1434											
ANP32C	55016	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	165118218	165118218	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttcatcttcctcgccatCtacctctccatcgttataac	2	16	5	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr4:165118218C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				tcctcgccatctacctctcca	0.498																																					p.D216Y		.											.	ANP32C-90	0			c.G646T						.						199	158	172					4																	165118218		2203	4300	6503	SO:0001627	intron_variant	23520	exon1			CGCCATCTACCTC	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85404G>T	4.37:g.165118218C>A		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	142	21	NM_012403	0	0	0	0	0	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																			.		0.498	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		A	165118218	C	A	165118218	1	1	8	0	1	0	0	0	0	0	0	0	707	913	32	3		3	ANP32C	4	165118218	Intron	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	52051387	165118218	26036058	56	1435											
EXOC3	11336	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	446342	446342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagacagaccgggagGccgttgcgacagcagtgcaa	16	9	0	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:446342G>C	ENST00000512944.1	+	2	211	c.22G>C	c.(22-24)Gcc>Ccc	p.A8P	EXOC3_ENST00000315013.5_Missense_Mutation_p.A8P|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	19					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGACCGGGAGGCCGTTGCGAC	0.577																																					p.A8P		.											.	EXOC3-90	0			c.G22C						.						82	85	84					5																	446342		2010	4172	6182	SO:0001583	missense	11336	exon2			CGGGAGGCCGTTG	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.22G>C	5.37:g.446342G>C	ENSP00000425587:p.Ala8Pro	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	165	12	NM_007277	0	0	4	4	0	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711126	0.89112	.	.	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.18338	2.22;2.22	5.29	4.42	0.53409	.	0.097479	0.64402	N	0.000001	T	0.42449	0.1203	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42849	-0.9427	10	0.72032	D	0.01	-9.0788	13.5421	0.61681	0.0:0.1687:0.8313:0.0	.	19	O60645	EXOC3_HUMAN	P	8;8;8;18	ENSP00000425587:A8P;ENSP00000323377:A8P	ENSP00000323377:A8P	A	+	1	0	EXOC3	499342	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.453000	0.73488	1.215000	0.43411	0.650000	0.86243	GCC	.		0.577	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		C	446342	G	C	446342	3	2	8	1	0	0	0	0	1	0	0	0	5319	1203	42	3	24	3	EXOC3	5	446342	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		446342	180468918	57	1436											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001047	0	0	0	2	2	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	8	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	6187437	6633779	174281481	58	1437											
SPEF2	79925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	35644627	35644627	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgttttgatattgaaaaGgttctatagaactatttttt	7	2	1	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:35644627G>T	ENST00000356031.3	+	4	739	c.585G>T	c.(583-585)aaG>aaT	p.K195N	SPEF2_ENST00000440995.2_Splice_Site_p.K195N|SPEF2_ENST00000509059.1_Splice_Site_p.K195N|SPEF2_ENST00000282469.6_Splice_Site_p.K195N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	195					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGAAAAGGTTCTATAGA	0.313																																					p.K195N		.											.	SPEF2-26	0			c.G585T						.						27	28	28					5																	35644627		2198	4293	6491	SO:0001630	splice_region_variant	79925	exon4			TGAAAAGGTTCTA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.585+1G>T	5.37:g.35644627G>T		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	173	50	NM_024867	0	0	0	0	0	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339326	0.41398	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.43	5.43	0.79202	.	0.257580	0.33980	N	0.004367	T	0.28134	0.0694	M	0.68952	2.095	0.80722	D	1	P;P;P	0.46512	0.845;0.779;0.879	B;B;P	0.45829	0.368;0.299;0.494	T	0.01452	-1.1351	10	0.36615	T	0.2	.	18.8285	0.92128	0.0:0.0:1.0:0.0	.	195;195;195	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	N	195	ENSP00000282469:K195N;ENSP00000348314:K195N;ENSP00000421593:K195N;ENSP00000412125:K195N	ENSP00000282469:K195N	K	+	3	2	SPEF2	35680384	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	4.641000	0.61375	2.547000	0.85894	0.650000	0.86243	AAG	.		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Missense_Mutation	T	35644627	G	T	35644627	5	4	8	1	0	0	0	0	0	0	1	0	15082	1014	35	3	599	3	SPEF2	5	35644627	Splice_Site	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	29010848	35644627	145270633	59	1438											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109828	98109828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgaggttgaGcagcgccgcagccccgggct	16	17	0	1	rs2547973	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:98109828G>A	ENST00000513185.1	+	1	490	c.54G>A	c.(52-54)gaG>gaA	p.E18E	RGMB_ENST00000504776.1_3'UTR|RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000308234.7_Silent_p.E59E			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	18					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ccgaggttgagcagcgccgca	0.756													G|||	1477	0.294928	0.1672	0.2824	5008	,	,		8223	0.2956		0.3012	False		,,,				2504	0.4693				p.E59E		.											.	.	0			c.G177A						.						1	1	1					5																	98109828		405	1009	1414	SO:0001819	synonymous_variant	285704	exon3			GGTTGAGCAGCGC	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.54G>A	5.37:g.98109828G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37																																																																																				G|0.735;A|0.265		0.756	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		A	98109828	G	A	98109828	2	1	8	1	0	0	0	0	0	0	0	1	13326	962	34	3		3	RGMB	5	98109828	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	62465201	98109828	82805432	60	1439											
SLCO6A1	133482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	101755672	101755672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatttctaatgtggaaaCaatgacacctcccagaagct	7	10	1	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:101755672C>A	ENST00000506729.1	-	8	1501	c.1330G>T	c.(1330-1332)Gtt>Ttt	p.V444F	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V444F|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V382F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V444F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AATGTGGAAACAATGACACCT	0.353																																					p.V444F		.											.	SLCO6A1-96	1	Substitution - Missense(1)	lung(1)	c.G1330T						.						59	64	62					5																	101755672		2203	4300	6503	SO:0001583	missense	133482	exon8			TGGAAACAATGAC	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1330G>T	5.37:g.101755672C>A	ENSP00000421339:p.Val444Phe	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	126	53	NM_173488	0	0	0	0	0	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223591	0.22457	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.49139	0.79;0.79;0.79	4.81	1.01	0.19927	Major facilitator superfamily domain, general substrate transporter (1);	1.392020	0.04815	N	0.435992	T	0.68778	0.3038	M	0.85777	2.775	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.62885	0.79;0.908	T	0.46952	-0.9154	10	0.87932	D	0	.	7.5794	0.27955	0.0:0.5244:0.0:0.4756	.	382;444	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	F	444;444;382	ENSP00000421339:V444F;ENSP00000369135:V444F;ENSP00000373671:V382F	ENSP00000369135:V444F	V	-	1	0	SLCO6A1	101783571	0.999000	0.42202	0.054000	0.19295	0.031000	0.12232	0.920000	0.28705	0.182000	0.20032	-0.150000	0.13652	GTT	.		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101755672	C	A	101755672	3	1	8	1	0	0	0	0	1	0	0	0	14777	478	17	3	853	3	SLCO6A1	5	101755672	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3645844	101755672	79159588	61	1440											
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu	37	chr5	140799203	140799203	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgaccaaggtggtgGccgtggacgcggactcgggg	19	10	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:140799203G>C	ENST00000398594.2	+	1	1777	c.1777G>C	c.(1777-1779)Gcc>Ccc	p.A593P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	593	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGTGGTGGCCGTGGACGC	0.706																																					p.A593P		.											.	PCDHGB7-29	0			c.G1777C						.						31	36	34					5																	140799203		2199	4297	6496	SO:0001583	missense	56099	exon1			GTGGTGGCCGTGG	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1777G>C	5.37:g.140799203G>C	ENSP00000381594:p.Ala593Pro	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	100	6	NM_018927	0	0	2	2	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.046521	0.75846	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.32687	U	0.005763	D	0.89508	0.6735	H	0.99675	4.695	0.35522	D	0.801546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95953	0.8956	10	0.87932	D	0	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	593;593	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	P	593	ENSP00000381594:A593P	ENSP00000381594:A593P	A	+	1	0	PCDHGB7	140779387	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.847000	0.99503	2.619000	0.88677	0.491000	0.48974	GCC	.		0.706	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		C	140799203	G	C	140799203	3	2	8	1	0	0	0	0	1	0	0	0	11607	1203	42	3	1779	3	PCDHGB7	5	140799203	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	39043531	140799203	40116057	62	1441											
KCTD16	57528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	143586513	143586513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtttttcattgacagagatgGattcttgttccgttatattc	8	6	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:143586513G>T	ENST00000507359.3	+	2	1327	c.236G>T	c.(235-237)gGa>gTa	p.G79V	KCTD16_ENST00000512467.1_Missense_Mutation_p.G79V	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	79	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACAGAGATGGATTCTTGTTC	0.458																																					p.G79V		.											.	KCTD16-137	0			c.G236T						.						55	55	55					5																	143586513		2203	4300	6503	SO:0001583	missense	57528	exon3			GAGATGGATTCTT	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.236G>T	5.37:g.143586513G>T	ENSP00000426548:p.Gly79Val	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	127	20	NM_020768	0	0	0	0	0	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505390	0.64410	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.48836	0.8;0.8	5.67	4.8	0.61643	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87017	0.2126	10	0.87932	D	0	.	14.7147	0.69259	0.0695:0.0:0.9305:0.0	.	79	Q68DU8	KCD16_HUMAN	V	79	ENSP00000424151:G79V;ENSP00000426548:G79V	ENSP00000426548:G79V	G	+	2	0	KCTD16	143566706	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.807000	0.99171	1.395000	0.46643	0.561000	0.74099	GGA	.		0.458	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		T	143586513	G	T	143586513	3	4	8	1	0	0	0	0	1	0	0	0	8130	1174	41	3	238	3	KCTD16	5	143586513	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	2787310	143586513	37328747	63	1442											
ZNF346	23567	hgsc.bcm.edu	37	chr5	176449890	176449890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaagccgtgtccggtGcccagccggtgggtagagag	19	9	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr5:176449890G>T	ENST00000358149.3	+	1	194	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	ZNF346_ENST00000511834.1_Missense_Mutation_p.A51S|ZNF346_ENST00000261948.4_Missense_Mutation_p.A51S|ZNF346_ENST00000503039.1_Missense_Mutation_p.A51S|ZNF346_ENST00000506693.1_Missense_Mutation_p.A51S|ZNF346_ENST00000503425.1_Missense_Mutation_p.A51S|ZNF346_ENST00000512315.1_Missense_Mutation_p.A51S	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	51					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			CGTGTCCGGTGCCCAGCCGGT	0.721																																					p.A51S		.											.	ZNF346-90	0			c.G151T						.						8	10	9					5																	176449890		1993	3951	5944	SO:0001583	missense	23567	exon1			TCCGGTGCCCAGC	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.151G>T	5.37:g.176449890G>T	ENSP00000350869:p.Ala51Ser	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_012279	0	0	3	3	0	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754688	0.49362	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000512315;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T;T	0.57107	1.0;0.73;0.88;1.0;0.42;1.0;0.42	3.37	-0.496	0.12027	.	1.049750	0.07509	N	0.908625	T	0.49660	0.1570	N	0.19112	0.55	0.25197	N	0.990087	D;B;B;B;B	0.64830	0.994;0.001;0.059;0.006;0.001	D;B;B;B;B	0.70716	0.97;0.001;0.028;0.003;0.001	T	0.40590	-0.9555	10	0.29301	T	0.29	.	2.9139	0.05746	0.3329:0.0:0.4681:0.199	.	51;51;51;51;51	B7Z4J8;B7Z367;Q9UL40-2;B7Z4N4;Q9UL40	.;.;.;.;ZN346_HUMAN	S	51	ENSP00000350869:A51S;ENSP00000423515:A51S;ENSP00000421089:A51S;ENSP00000421212:A51S;ENSP00000261948:A51S;ENSP00000425725:A51S;ENSP00000424495:A51S	ENSP00000261948:A51S	A	+	1	0	ZNF346	176382496	0.989000	0.36119	0.707000	0.30419	0.990000	0.78478	0.422000	0.21296	-0.133000	0.11537	0.561000	0.74099	GCC	.		0.721	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		T	176449890	G	T	176449890	3	4	8	1	0	0	0	0	1	0	0	0	17908	1319	46	3	153	3	ZNF346	5	176449890	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	32863377	176449890	4465370	64	1443											
MYLIP	29116	bcgsc.ca	37	chr6	16145325	16145325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacctcgtttcaagaaAcaaccagagcccttcacact	7	13	2	2	rs9370867	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:16145325A>G	ENST00000356840.3	+	6	1223	c.1025A>G	c.(1024-1026)aAc>aGc	p.N342S	MYLIP_ENST00000349606.4_Missense_Mutation_p.N161S	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	342			N -> S (in dbSNP:rs9370867). {ECO:0000269|PubMed:10593918, ECO:0000269|PubMed:11042152, ECO:0000269|PubMed:15498874, ECO:0000269|Ref.2}.		cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTTCAAGAAACAACCAGAGC	0.517													G|||	3856	0.769968	0.9652	0.6945	5008	,	,		22511	0.9435		0.4861	False		,,,				2504	0.6728				p.N342S		.											.	MYLIP-91	0			c.A1025G						.	G	SER/ASN	3906,500	231.7+/-245.5	1738,430,35	100	103	102		1025	3.8	0	6	dbSNP_119	102	4094,4506	593.3+/-393.1	967,2160,1173	yes	missense	MYLIP	NM_013262.3	46	2705,2590,1208	GG,GA,AA		47.6047,11.3482,38.4899	benign	342/446	16145325	8000,5006	2203	4300	6503	SO:0001583	missense	29116	exon6			CAAGAAACAACCA	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1025A>G	6.37:g.16145325A>G	ENSP00000349298:p.Asn342Ser	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	201	6	NM_013262	0	0	31	31	0	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	1620	0.7417582417582418	469	0.9532520325203252	239	0.6602209944751382	541	0.9458041958041958	371	0.4894459102902375	G	0.035	-1.312768	0.01331	0.886518	0.476047	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.81908	-1.55;1.16	5.65	3.85	0.44370	.	0.514420	0.25666	N	0.029102	T	0.39200	0.1069	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08868	-1.0701	9	0.02654	T	1	.	9.9368	0.41556	0.1268:0.1148:0.7584:0.0	rs9370867;rs59084742;rs9370867	342	Q8WY64	MYLIP_HUMAN	S	342;161	ENSP00000349298:N342S;ENSP00000008686:N161S	ENSP00000008686:N161S	N	+	2	0	MYLIP	16253304	0.018000	0.18449	0.000000	0.03702	0.446000	0.32137	1.572000	0.36461	0.415000	0.25817	-0.119000	0.15052	AAC	A|0.313;G|0.687		0.517	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		G	16145325	A	G	16145325	3	3	8	1	0	0	0	0	1	0	0	0	10093	43	2	4	1047	4	MYLIP	6	16145325	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10		16145325	154969742	65	1444											
KIAA0319	9856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	24581184	24581184	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgacattgacaaatccttCtccaaaggcgttttcactag	7	10	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:24581184C>A	ENST00000378214.3	-	7	1773	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.E372*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.E417*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.E417*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.E408*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	417	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACAAATCCTTCTCCAAAGGCG	0.403											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E417X		.											.	KIAA0319-92	0			c.G1249T						.						149	145	146					6																	24581184		2203	4300	6503	SO:0001587	stop_gained	9856	exon7			ATCCTTCTCCAAA	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1249G>T	6.37:g.24581184C>A	ENSP00000367459:p.Glu417*	Somatic	72	0	772	WXS	Illumina GAIIx	Phase_I	50	9	NM_001168377	0	0	0	0	0	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	40	8.011795	0.98610	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.53	4.53	0.55603	.	0.234260	0.35378	N	0.003243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.7299	17.4492	0.87587	0.0:1.0:0.0:0.0	.	.	.	.	X	417;408;372;417;417	.	ENSP00000367459:E417X	E	-	1	0	KIAA0319	24689163	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.750000	0.55157	2.334000	0.79466	0.655000	0.94253	GAA	.		0.403	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		A	24581184	C	A	24581184	4	1	8	1	0	0	0	0	0	1	0	0	8195	922	32	3	2029	3	KIAA0319	6	24581184	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8435859	24581184	146533883	66	1445											
IER3	8870	hgsc.bcm.edu	37	chr6	30712154	30712154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctggggcgcccggcagGggccgctgcgggctccggga	22	14	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:30712154G>T	ENST00000259874.5	-	1	177	c.142C>A	c.(142-144)Cct>Act	p.P48T	FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank|IER3_ENST00000376377.2_Missense_Mutation_p.P48T|FLOT1_ENST00000456573.2_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	48					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CGCCCGGCAGGGGCCGCTGCG	0.736																																					p.P48T		.											.	IER3-90	0			c.C142A						.						8	11	10					6																	30712154		1201	2470	3671	SO:0001583	missense	8870	exon1			CGGCAGGGGCCGC	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.142C>A	6.37:g.30712154G>T	ENSP00000259874:p.Pro48Thr	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	26	7	NM_003897	0	0	9	10	1	Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276650	0.40294	.	.	ENSG00000137331	ENST00000259874;ENST00000376377;ENST00000376382	T	0.43688	0.94	4.52	1.73	0.24493	.	0.547984	0.16907	N	0.194628	T	0.10981	0.0268	L	0.34521	1.04	0.09310	N	1	P	0.36909	0.573	B	0.33521	0.165	T	0.12915	-1.0529	10	0.33141	T	0.24	.	6.1815	0.20474	0.3224:0.0:0.6776:0.0	.	48	P46695	IEX1_HUMAN	T	48	ENSP00000259874:P48T	ENSP00000259874:P48T	P	-	1	0	IER3	30820133	0.359000	0.24955	0.003000	0.11579	0.356000	0.29392	0.805000	0.27112	0.164000	0.19529	0.549000	0.68633	CCT	.		0.736	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			T	30712154	G	T	30712154	3	4	8	1	0	0	0	0	1	0	0	0	7533	1232	43	3	336	3	IER3	6	30712154	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	6130970	30712154	140402913	67	1446											
VARS	7407	hgsc.bcm.edu	37	chr6	31762843	31762844	+	Missense_Mutation	DNP	GG	GG	CT													gcaggcggggtgggggaaagGgagtcctgctagtcgggggt					rs2607015|rs2753960|rs67600122	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:31762843_31762844GG>CT	ENST00000375663.3	-	2	591_592	c.151_152CC>AG	c.(151-153)CCc>AGc	p.P51S	VARS_ENST00000444930.2_Intron|LSM2_ENST00000491421.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	51			P -> R (in dbSNP:rs2607015).|P -> T (in dbSNP:rs2753960).	P -> S (in Ref. 1; CAA41990 and 7; AAH12808). {ECO:0000305}.	gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGGGGAAAGGGAGTCCTGCTA	0.733																																					p.P51S		.											.	VARS-93	0			c.C151A						.																																			SO:0001583	missense	7407	exon2			GAAAGGGAGTCCT	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.151_152delinsCT	6.37:g.31762843_31762844delinsCT	ENSP00000364815:p.Pro51Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	0	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	DNP	ENST00000375663.3	37	CCDS34412.1																																																																																			G|0.721;T|0.279		0.733	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		CT	31762844	GG	CT	31762843	3	2	8	1	0	0	0	0	1	0	0	0	17172	1232	43	3	3758	3	VARS	6	31762843	Missense_Mutation	DNP	GG	TCGA-OR-A5J8-01A-11D-A29I-10	1050689	31762843	139352224	68	1447											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	30	30	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	8	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	7519193	39282036	131833031	69	1448											
TTBK1	84630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43230667	43230667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctgtggagcaggaggCcctgagcaacgccttccgct	13	14	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:43230667C>T	ENST00000259750.4	+	13	1648	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	TTBK1_ENST00000304139.5_Missense_Mutation_p.A471V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	522					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)			GAGCAGGAGGCCCTGAGCAAC	0.622																																					p.A522V		.											.	TTBK1-353	0			c.C1565T						.						77	60	66					6																	43230667		2203	4300	6503	SO:0001583	missense	84630	exon13			AGGAGGCCCTGAG	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.1565C>T	6.37:g.43230667C>T	ENSP00000259750:p.Ala522Val	Somatic	351	0		WXS	Illumina GAIIx	Phase_I	423	72	NM_032538	0	0	0	0	0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861217	0.71949	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.61627	0.09	5.38	5.38	0.77491	.	0.058713	0.64402	D	0.000002	T	0.44095	0.1277	L	0.38838	1.175	0.40283	D	0.978411	P;P	0.46912	0.884;0.886	B;P	0.45377	0.396;0.478	T	0.50600	-0.8809	10	0.59425	D	0.04	.	16.0488	0.80740	0.0:1.0:0.0:0.0	.	45;522	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	V	471;522;471	ENSP00000259750:A522V	ENSP00000259750:A522V	A	+	2	0	TTBK1	43338645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.628000	0.67791	2.532000	0.85374	0.484000	0.47621	GCC	.		0.622	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43230667	C	T	43230667	3	4	8	1	0	0	0	0	1	0	0	0	16725	739	26	3	1611	3	TTBK1	6	43230667	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3948631	43230667	127884400	70	1449											
PKHD1	5314	broad.mit.edu	37	chr6	51524024	51524024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcctacgttgaccaaCtcttctataatgactagtgc	9	10	2	3	rs374441065		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:51524024C>T	ENST00000371117.3	-	61	11175	c.10900G>A	c.(10900-10902)Gtt>Att	p.V3634I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3634					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)					CGTTGACCAACTCTTCTATAA	0.443																																					p.V3634I		.											.	PKHD1-603	0			c.G10900A						.	C	ILE/VAL	0,4406		0,0,2203	127	126	126		10900	-0.5	0	6		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKHD1	NM_138694.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3634/4075	51524024	1,13005	2203	4300	6503	SO:0001583	missense	5314	exon61			GACCAACTCTTCT	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.10900G>A	6.37:g.51524024C>T	ENSP00000360158:p.Val3634Ile	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	105	3	NM_138694	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.883	-0.728189	0.03135	0.0	1.16E-4	ENSG00000170927	ENST00000371117	D	0.85702	-2.02	3.71	-0.522	0.11928	.	1.236620	0.05703	N	0.594556	T	0.59473	0.2196	L	0.44542	1.39	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.42378	-0.9455	10	0.27082	T	0.32	.	3.9764	0.09476	0.5353:0.2522:0.0:0.2125	.	3634	P08F94	PKHD1_HUMAN	I	3634	ENSP00000360158:V3634I	ENSP00000360158:V3634I	V	-	1	0	PKHD1	51631983	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.218000	0.09240	-0.034000	0.13713	0.650000	0.86243	GTT	.		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51524024	C	T	51524024	3	4	8	1	0	0	0	0	1	0	0	0	12010	565	20	3	1352	3	PKHD1	6	51524024	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8293357	51524024	119591043	71	1450											
EYS	346007	broad.mit.edu	37	chr6	65767590	65767590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcagggatgtgaagcaCactcatctatatcaatttca	7	8	4	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:65767590C>A	ENST00000370621.3	-	13	2580	c.2054G>T	c.(2053-2055)tGt>tTt	p.C685F	EYS_ENST00000370616.2_Missense_Mutation_p.C685F|EYS_ENST00000503581.1_Missense_Mutation_p.C685F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	685	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGTGAAGCACACTCATCTAT	0.388																																					p.C685F		.											.	EYS-660	0			c.G2054T						.						226	179	193					6																	65767590		692	1591	2283	SO:0001583	missense	346007	exon13			GAAGCACACTCAT		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.2054G>T	6.37:g.65767590C>A	ENSP00000359655:p.Cys685Phe	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	222	4	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	16.38	3.107635	0.56291	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.99992	-12.4;-12.4;-12.4	5.36	1.58	0.23477	.	.	.	.	.	D	0.99988	0.9998	H	0.98701	4.305	0.36560	D	0.872347	P	0.49358	0.923	P	0.49276	0.605	D	0.93514	0.6855	9	0.87932	D	0	.	9.3107	0.37903	0.0:0.7257:0.0:0.2743	.	685	Q5T1H1-1	.	F	685	ENSP00000424243:C685F;ENSP00000359655:C685F;ENSP00000359650:C685F	ENSP00000359650:C685F	C	-	2	0	EYS	65824311	0.006000	0.16342	0.000000	0.03702	0.253000	0.25986	1.214000	0.32419	0.006000	0.14734	0.591000	0.81541	TGT	.		0.388	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65767590	C	A	65767590	3	1	8	1	0	0	0	0	1	0	0	0	5348	478	17	3	7349	3	EYS	6	65767590	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	14243566	65767590	105347477	72	1451											
SENP6	26054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	76423518	76423518	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggtgtatatgtattgCagtatgtagagagctttttt	11	3	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:76423518C>T	ENST00000447266.2	+	23	3584	c.3106C>T	c.(3106-3108)Cag>Tag	p.Q1036*	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Nonsense_Mutation_p.Q1036*|SENP6_ENST00000370010.2_Nonsense_Mutation_p.Q1029*	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1036	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATATGTATTGCAGTATGTAGA	0.328																																					p.Q1036X		.											.	SENP6-660	0			c.C3106T						.						105	98	100					6																	76423518		1823	4079	5902	SO:0001587	stop_gained	26054	exon23			GTATTGCAGTATG		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3106C>T	6.37:g.76423518C>T	ENSP00000402527:p.Gln1036*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	75	7	NM_015571	0	0	12	16	4	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Nonsense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	47	13.420929	0.99741	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.2467	18.6197	0.91317	0.0:1.0:0.0:0.0	.	.	.	.	X	1029;1036;1036	.	ENSP00000359027:Q1029X	Q	+	1	0	SENP6	76480238	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	7.400000	0.79949	2.478000	0.83669	0.563000	0.77884	CAG	.		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		T	76423518	C	T	76423518	4	4	8	1	0	0	0	0	0	1	0	0	14095	711	25	3	3196	3	SENP6	6	76423518	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	10655928	76423518	94691549	73	1452											
TSPYL4	23270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	116574092	116574092	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgaattctagaaggctgtgGtctgaaaaccagttgaagaa	11	6	2	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:116574092G>C	ENST00000420283.1	-	1	1169	c.1080C>G	c.(1078-1080)gaC>gaG	p.D360E	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	360					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GAAGGCTGTGGTCTGAAAACC	0.517																																					p.D360E		.											.	.	0			c.C1080G						.						76	75	75					6																	116574092		1906	4137	6043	SO:0001583	missense	23270	exon1			GCTGTGGTCTGAA		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.1080C>G	6.37:g.116574092G>C	ENSP00000410943:p.Asp360Glu	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	124	12	NM_021648	0	0	2	2	0	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	ENST00000420283.1	37	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244603	0.59103	.	.	ENSG00000187189	ENST00000420283	T	0.32023	1.47	3.83	0.934	0.19477	.	.	.	.	.	T	0.20536	0.0494	L	0.58583	1.82	0.42787	D	0.993882	P	0.38048	0.616	P	0.47528	0.549	T	0.07424	-1.0773	9	0.49607	T	0.09	-15.4319	5.5694	0.17188	0.3912:0.0:0.6088:0.0	.	360	Q9UJ04	TSYL4_HUMAN	E	360	ENSP00000410943:D360E	ENSP00000410943:D360E	D	-	3	2	TSPYL4	116680785	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.700000	0.37815	0.175000	0.19841	0.462000	0.41574	GAC	.		0.517	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			C	116574092	G	C	116574092	3	2	8	1	0	0	0	0	1	0	0	0	16709	1252	44	3	168	3	TSPYL4	6	116574092	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	40150574	116574092	54540975	74	1453											
CTGF	1490	hgsc.bcm.edu	37	chr6	132271952	132271952	+	Missense_Mutation	SNP	G	G	C													gttggccggggagccgaagtGacagaataggcccttgtgcg					rs7451102		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:132271952G>C	ENST00000367976.3	-	2	447	c.247C>G	c.(247-249)Cac>Gac	p.H83D	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	83	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.		H -> D (in dbSNP:rs7451102). {ECO:0000269|PubMed:1293144, ECO:0000269|PubMed:1654338, ECO:0000269|PubMed:9054739, ECO:0000269|Ref.12, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GAGCCGAAGTGACAGAATAGG	0.711													C|||	5007	0.9998	1	1	5008	,	,		8487	1		0.999	False		,,,				2504	1				p.H83D	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.C247G						.						7	8	7					6																	132271952		2119	4187	6306	SO:0001583	missense	1490	exon2			CGAAGTGACAGAA	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.247C>G	6.37:g.132271952G>C	ENSP00000356954:p.His83Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	2184	1.0	492	1.0	362	1.0	572	1.0	758	1.0	C	8.018	0.758919	0.15846	.	.	ENSG00000118523	ENST00000367976	T	0.62232	0.04	5.28	5.28	0.74379	Insulin-like growth factor-binding protein, IGFBP (2);	0.048665	0.85682	N	0.000000	T	0.06781	0.0173	N	0.00042	-2.475	0.40675	P	0.017750000000000044	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.02654	T	1	.	15.7931	0.78384	0.0:0.863:0.137:0.0	rs7451102;rs59294435	83	P29279	CTGF_HUMAN	D	83	ENSP00000356954:H83D	ENSP00000356954:H83D	H	-	1	0	CTGF	132313645	1.000000	0.71417	0.923000	0.36655	0.645000	0.38454	4.000000	0.57039	1.236000	0.43740	-0.293000	0.09583	CAC	G|0.000;C|1.000		0.711	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		C	132271952	G	C	132271952	3	2	8	1	0	0	0	0	1	0	0	0	4017	1290	45	3	818	3	CTGF	6	132271952	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	15697860	132271952	38843115	75	1454	14	2									
CTGF	1490	hgsc.bcm.edu	37	chr6	132271959	132271959	+	Silent	SNP	T	T	G													ggggagccgaagtgacagaaTaggcccttgtgcgggtcgca					rs12206231		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:132271959T>G	ENST00000367976.3	-	2	440	c.240A>C	c.(238-240)ctA>ctC	p.L80L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		AGTGACAGAATAGGCCCTTGT	0.701													G|||	5008	1	1	1	5008	,	,		8368	1		1	False		,,,				2504	1				p.L80L	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A240C						.						7	8	7					6																	132271959		2127	4192	6319	SO:0001819	synonymous_variant	1490	exon2			ACAGAATAGGCCC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.240A>C	6.37:g.132271959T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.701	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271959	T	G	132271959	2	3	8	1	0	0	0	0	0	0	0	1	4017	1393	49	5		5	CTGF	6	132271959	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	7	132271959	38843108	76	1455	14	2									
CTGF	1490	hgsc.bcm.edu	37	chr6	132271980	132271980	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag	17	12	0	0	rs6934749		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:132271980T>G	ENST00000367976.3	-	2	419	c.219A>C	c.(217-219)ccA>ccC	p.P73P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													G|||	5008	1	1	1	5008	,	,		7576	1		1	False		,,,				2504	1				p.P73P	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A219C						.						6	8	7					6																	132271980		2100	4127	6227	SO:0001819	synonymous_variant	1490	exon2			GTCGCATGGGTCG	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.219A>C	6.37:g.132271980T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001901	0	0	0	41	41	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271980	T	G	132271980	2	3	8	1	0	0	0	0	0	0	0	1	4017	1451	51	5		5	CTGF	6	132271980	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	21	132271980	38843087	77	1456											
VNN1	8876	broad.mit.edu;bcgsc.ca	37	chr6	133014263	133014263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagctgacaaatgtggCaaaacattcatccaagctgt	7	10	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:133014263C>T	ENST00000367928.4	-	4	739	c.726G>A	c.(724-726)ttG>ttA	p.L242L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	242	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)		ACAAATGTGGCAAAACATTCA	0.433																																					p.L242L		.											.	VNN1-93	0			c.G726A						.						140	120	126					6																	133014263		2203	4300	6503	SO:0001819	synonymous_variant	8876	exon4			ATGTGGCAAAACA	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.726G>A	6.37:g.133014263C>T		Somatic	167	1		WXS	Illumina GAIIx	Phase_I	292	26	NM_004666	0	0	0	0	0	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	CCDS5159.1																																																																																			.		0.433	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			T	133014263	C	T	133014263	2	4	8	1	0	0	0	0	0	0	0	1	17231	709	25	3		3	VNN1	6	133014263	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	742283	133014263	38100804	78	1457											
GPR126	57211	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	142729367	142729367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attactatccagaatctgaaGgatcctgttcaaataaaaat	5	7	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:142729367G>T	ENST00000230173.6	+	16	2825	c.2349G>T	c.(2347-2349)aaG>aaT	p.K783N	GPR126_ENST00000296932.8_Missense_Mutation_p.K755N|GPR126_ENST00000367609.3_Missense_Mutation_p.K783N|GPR126_ENST00000367608.2_Missense_Mutation_p.K755N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	783					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGAATCTGAAGGATCCTGTTC	0.358																																					p.K783N		.											.	GPR126-91	0			c.G2349T						.						65	61	62					6																	142729367		1815	4077	5892	SO:0001583	missense	57211	exon16			TCTGAAGGATCCT	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2349G>T	6.37:g.142729367G>T	ENSP00000230173:p.Lys783Asn	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	257	15	NM_198569	0	0	0	0	0	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431489	0.12045	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.25085	1.83;1.82;1.83;1.83	5.4	1.55	0.23275	.	0.627512	0.15573	N	0.255339	T	0.07548	0.0190	L	0.43152	1.355	0.35059	D	0.761391	P;P;P;B	0.36315	0.547;0.547;0.547;0.411	B;B;B;B	0.36335	0.222;0.222;0.222;0.111	T	0.26155	-1.0111	10	0.22706	T	0.39	.	6.1933	0.20536	0.2841:0.1242:0.5917:0.0	.	755;783;755;783	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	N	783;755;755;783	ENSP00000230173:K783N;ENSP00000356580:K755N;ENSP00000296932:K755N;ENSP00000356581:K783N	ENSP00000230173:K783N	K	+	3	2	GPR126	142771060	1.000000	0.71417	0.818000	0.32626	0.032000	0.12392	1.735000	0.38176	0.055000	0.16094	-0.894000	0.02916	AAG	.		0.358	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142729367	G	T	142729367	3	4	8	1	0	0	0	0	1	0	0	0	6666	991	35	3	2411	3	GPR126	6	142729367	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	9715104	142729367	28385700	79	1458											
TULP4	56995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158900810	158900810	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatctccatctgctggggtCaccgggattcgaggctgttg	13	11	4	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:158900810C>A	ENST00000367097.3	+	7	2411	c.1054C>A	c.(1054-1056)Cac>Aac	p.H352N	TULP4_ENST00000367094.2_Missense_Mutation_p.H352N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	352					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)		CTGCTGGGGTCACCGGGATTC	0.572																																					p.H352N		.											.	TULP4-91	0			c.C1054A						.						70	62	64					6																	158900810		2203	4300	6503	SO:0001583	missense	56995	exon7			TGGGGTCACCGGG		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.1054C>A	6.37:g.158900810C>A	ENSP00000356064:p.His352Asn	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	103	37	NM_020245	0	0	0	0	0	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359885	0.82353	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.15834	2.39;2.39	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.147583	0.64402	N	0.000009	T	0.15349	0.0370	L	0.50333	1.59	0.80722	D	1	D;P;P	0.55385	0.971;0.952;0.888	P;P;B	0.45712	0.491;0.453;0.342	T	0.00972	-1.1495	10	0.42905	T	0.14	-15.8902	19.6786	0.95946	0.0:1.0:0.0:0.0	.	352;352;352	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	N	352	ENSP00000356064:H352N;ENSP00000356061:H352N	ENSP00000356061:H352N	H	+	1	0	TULP4	158820798	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.313000	0.78978	2.651000	0.90000	0.561000	0.74099	CAC	.		0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		A	158900810	C	A	158900810	3	1	8	1	0	0	0	0	1	0	0	0	16825	826	29	3	1080	3	TULP4	6	158900810	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	16171443	158900810	12214257	80	1459											
PRR18	285800	hgsc.bcm.edu	37	chr6	166720806	166720806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgcgcggcagccgcGgactccacgccgcgcagcca	14	21	0	0	rs911203	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7	7	7		825	2.4	1	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		C	166720806	G	C	166720806	2	2	8	1	0	0	0	0	0	0	0	1	12632	1103	39	2		2	PRR18	6	166720806	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	7819996	166720806	4394261	81	1460											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_001080495	0	0	0	1	1	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	8	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		5372406	153766257	82	1461											
TWISTNB	221830	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	19738103	19738103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggtcctgaacttcctGgtgctttttcttcttcttct	7	12	4	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:19738103G>T	ENST00000222567.5	-	4	923	c.853C>A	c.(853-855)Cag>Aag	p.Q285K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	285	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TGAACTTCCTGGTGCTTTTTC	0.428																																					p.Q285K		.											.	TWISTNB-91	0			c.C853A						.						225	249	241					7																	19738103		2203	4299	6502	SO:0001583	missense	221830	exon4			CTTCCTGGTGCTT	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.853C>A	7.37:g.19738103G>T	ENSP00000222567:p.Gln285Lys	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_001002926	0	0	6	8	2	A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495268	0.26774	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.63	3.66	0.41972	.	1.220510	0.05234	N	0.510877	T	0.40522	0.1120	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	9	0.09843	T	0.71	-3.7987	8.7395	0.34550	0.0:0.1196:0.4258:0.4545	.	285	Q3B726	RPA43_HUMAN	K	285	.	ENSP00000222567:Q285K	Q	-	1	0	TWISTNB	19704628	0.673000	0.27539	0.742000	0.31022	0.898000	0.52572	1.281000	0.33214	1.317000	0.45149	0.484000	0.47621	CAG	.		0.428	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			T	19738103	G	T	19738103	3	4	8	1	0	0	0	0	1	0	0	0	16833	1357	47	3	167	3	TWISTNB	7	19738103	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	14365697	19738103	139400560	83	1462											
GPNMB	10457	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	23296587	23296587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacggggaaaatggcacCggccaaagccatcataacgt	12	10	1	1	rs371662186		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:23296587C>T	ENST00000381990.2	+	4	605	c.444C>T	c.(442-444)acC>acT	p.T148T	GPNMB_ENST00000409458.3_Silent_p.T148T|GPNMB_ENST00000258733.4_Silent_p.T148T|GPNMB_ENST00000539136.1_Silent_p.T49T|GPNMB_ENST00000453162.2_Intron	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	148					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)			AAAATGGCACCGGCCAAAGCC	0.488																																					p.T148T		.											.	GPNMB-580	0			c.C444T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	132	110	118		444,444	-6	0	7		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPNMB	NM_001005340.1,NM_002510.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	148/573,148/561	23296587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10457	exon4			TGGCACCGGCCAA	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.444C>T	7.37:g.23296587C>T		Somatic	225	0		WXS	Illumina GAIIx	Phase_I	317	135	NM_002510	0	0	124	239	115	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																			.		0.488	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23296587	C	T	23296587	2	4	8	1	0	0	0	0	0	0	0	1	6646	639	23	1		1	GPNMB	7	23296587	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3558484	23296587	135842076	84	1463											
PURB	5814	hgsc.bcm.edu	37	chr7	44924461	44924461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgctctgcaagccgcccgGcccggggcccgcgccgaagc	15	20	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:44924461G>T	ENST00000395699.2	-	1	499	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	163	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						AAgccgcccggcccggggccc	0.701																																					p.P163T		.											.	PURB-90	0			c.C487A						.						3	4	4					7																	44924461		1917	3736	5653	SO:0001583	missense	5814	exon1			CGCCCGGCCCGGG		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.487C>A	7.37:g.44924461G>T	ENSP00000379051:p.Pro163Thr	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	21	6	NM_033224	0	0	0	0	0	A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.388051	0.01194	.	.	ENSG00000146676	ENST00000395699	T	0.30714	1.52	3.55	2.56	0.30785	.	1.020030	0.07879	U	0.969179	T	0.28466	0.0704	N	0.22421	0.69	0.35924	D	0.831995	B	0.25169	0.119	B	0.40228	0.323	T	0.33879	-0.9851	10	0.29301	T	0.29	.	9.0368	0.36293	0.0:0.3657:0.6343:0.0	.	163	Q96QR8	PURB_HUMAN	T	163	ENSP00000379051:P163T	ENSP00000379051:P163T	P	-	1	0	PURB	44890986	0.317000	0.24589	1.000000	0.80357	0.298000	0.27526	1.913000	0.39956	1.967000	0.57214	0.462000	0.41574	CCG	.		0.701	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		T	44924461	G	T	44924461	3	4	8	1	0	0	0	0	1	0	0	0	12873	1203	42	3	455	3	PURB	7	44924461	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	21627874	44924461	114214202	85	1464											
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	47930172	47930172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtagggggacaggaaCacccgggtctcagaagagtt	16	8	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:47930172C>A	ENST00000289672.2	-	16	2693	c.2643G>T	c.(2641-2643)gtG>gtT	p.V881V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	881	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGACAGGAACACCCGGGTCT	0.562																																					p.V881V		.											.	PKD1L1-145	0			c.G2643T						.						87	80	82					7																	47930172		2203	4300	6503	SO:0001819	synonymous_variant	168507	exon16			CAGGAACACCCGG	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.2643G>T	7.37:g.47930172C>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	139	11	NM_138295	0	0	0	0	0	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			.		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47930172	C	A	47930172	2	1	8	1	0	0	0	0	0	0	0	1	12003	465	17	3		3	PKD1L1	7	47930172	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3005711	47930172	111208491	86	1465											
PHTF2	57157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	77579101	77579101	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagatttgttacccttggatCagaaacaagtaaaaaatata	6	5	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:77579101C>A	ENST00000248550.7	+	16	2142	c.2066C>A	c.(2065-2067)tCa>tAa	p.S689*	PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S651*|PHTF2_ENST00000416283.2_Nonsense_Mutation_p.S655*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S655*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACCCTTGGATCAGAAACAAGT	0.333																																					p.S655X		.											.	PHTF2-23	0			c.C1964A						.						94	84	87					7																	77579101		1840	4077	5917	SO:0001587	stop_gained	57157	exon15			TTGGATCAGAAAC	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.2066C>A	7.37:g.77579101C>A	ENSP00000248550:p.Ser689*	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	167	9	NM_001127357	0	0	1	1	0	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.596037	0.98879	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000416283;ENST00000248550	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5705	19.3637	0.94453	0.0:1.0:0.0:0.0	.	.	.	.	X	655;655;651;655;689	.	ENSP00000248550:S689X	S	+	2	0	PHTF2	77417037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.648000	0.89879	0.655000	0.94253	TCA	.		0.333	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		A	77579101	C	A	77579101	4	1	8	1	0	0	0	0	0	1	0	0	11902	838	29	3	2076	3	PHTF2	7	77579101	Nonsense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	29648929	77579101	81559562	87	1466											
NPTX2	4885	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	98256610	98256610	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggagaacctggccccctGgcaccccatcaagcccgggg	14	16	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:98256610G>A	ENST00000265634.3	+	4	1187	c.1022G>A	c.(1021-1023)tGg>tAg	p.W341*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	341	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCCCCCTGGCACCCCATC	0.652																																					p.W341X		.											.	NPTX2-515	0			c.G1022A						.						71	59	63					7																	98256610		2203	4300	6503	SO:0001587	stop_gained	4885	exon4			CCCCCTGGCACCC		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1022G>A	7.37:g.98256610G>A	ENSP00000265634:p.Trp341*	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	178	17	NM_002523	0	0	5	6	1	A4D267|Q86XV7|Q96G70	Nonsense_Mutation	SNP	ENST00000265634.3	37	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250667	0.97412	.	.	ENSG00000106236	ENST00000265634	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-14.0198	18.4968	0.90867	0.0:0.0:1.0:0.0	.	.	.	.	X	341	.	ENSP00000265634:W341X	W	+	2	0	NPTX2	98094546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.908000	0.87438	2.682000	0.91365	0.655000	0.94253	TGG	.		0.652	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		A	98256610	G	A	98256610	4	1	8	1	0	0	0	0	0	1	0	0	10642	1357	47	3	1036	3	NPTX2	7	98256610	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	20677509	98256610	60882053	88	1467											
ZNF277	11179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	111982631	111982631	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtattattttccaacCtatgaaaatgacactctcct	4	10	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:111982631C>A	ENST00000361822.3	+	12	1329	c.1200C>A	c.(1198-1200)acC>acA	p.T400T	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	400					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATTTTCCAACCTATGAAAATG	0.353																																					p.T400T		.											.	ZNF277-155	0			c.C1200A						.						75	69	71					7																	111982631		2203	4300	6503	SO:0001819	synonymous_variant	11179	exon12			TCCAACCTATGAA	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.1200C>A	7.37:g.111982631C>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	93	37	NM_021994	0	0	21	27	6	Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	CCDS5755.2																																																																																			.		0.353	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		A	111982631	C	A	111982631	2	1	8	1	0	0	0	0	0	0	0	1	17860	668	24	3		3	ZNF277	7	111982631	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	13726021	111982631	47156032	89	1468											
EXOC4	60412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	133692487	133692487	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccagtacttcaggcgcatCagtgagtctggcatcaagaa	11	11	4	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:133692487C>A	ENST00000253861.4	+	17	2615	c.2586C>A	c.(2584-2586)atC>atA	p.I862I	EXOC4_ENST00000539845.1_Silent_p.I761I|EXOC4_ENST00000545148.1_Silent_p.I472I|EXOC4_ENST00000541309.1_Silent_p.I150I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	862					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCAGGCGCATCAGTGAGTCTG	0.512																																					p.I862I		.											.	EXOC4-159	0			c.C2586A						.						77	64	68					7																	133692487		2203	4300	6503	SO:0001819	synonymous_variant	60412	exon17			GCGCATCAGTGAG	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.2586C>A	7.37:g.133692487C>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	151	44	NM_021807	0	0	5	10	5	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																			.		0.512	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		A	133692487	C	A	133692487	2	1	8	1	0	0	0	0	0	0	0	1	5322	816	29	3		3	EXOC4	7	133692487	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	21709856	133692487	25446176	90	1469											
KLRG2	346689	hgsc.bcm.edu	37	chr7	139168063	139168063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggctcagccccgggcGcctcgccattccggggcagc	15	18	1	0	rs12707447	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:139168063G>A	ENST00000340940.4	-	1	395	c.326C>T	c.(325-327)gCg>gTg	p.A109V	KLRG2_ENST00000393039.2_Missense_Mutation_p.A109V	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	109	Pro-rich.			A -> V (in Ref. 3; EAL24036). {ECO:0000305}.		integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGCCCCGGGCGCCTCGCCATT	0.766													G|||	1330	0.265575	0.4675	0.2565	5008	,	,		10831	0.0179		0.3161	False		,,,				2504	0.2025				p.A109V		.											.	KLRG2-90	0			c.C326T						.	G	VAL/ALA	1270,1542		314,642,450	3	4	4		326	1.5	0.1	7	dbSNP_121	4	2136,4112		483,1170,1471	no	missense	KLRG2	NM_198508.2	64	797,1812,1921	AA,AG,GG		34.1869,45.1636,37.5938	benign	109/410	139168063	3406,5654	1406	3124	4530	SO:0001583	missense	346689	exon1			CCGGGCGCCTCGC	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.326C>T	7.37:g.139168063G>A	ENSP00000339356:p.Ala109Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_198508	0	0	0	0	0	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	579	0.2651098901098901	245	0.49796747967479676	95	0.26243093922651933	13	0.022727272727272728	226	0.29815303430079154	G	12.57	1.978353	0.34942	0.451636	0.341869	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.51574	3.73;0.7	3.44	1.48	0.22813	.	0.520969	0.14130	U	0.339448	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.52463	0.953;0.953	B;B	0.35813	0.211;0.149	T	0.47381	-0.9122	9	0.87932	D	0	-1.9235	9.4134	0.38505	0.0:0.3741:0.6259:0.0	rs12707447	109;109	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	V	109	ENSP00000339356:A109V;ENSP00000376759:A109V	ENSP00000339356:A109V	A	-	2	0	KLRG2	138818603	0.000000	0.05858	0.100000	0.21137	0.123000	0.20343	0.302000	0.19192	0.110000	0.17919	0.484000	0.47621	GCG	G|0.735;A|0.265		0.766	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		A	139168063	G	A	139168063	3	1	8	1	0	0	0	0	1	0	0	0	8449	1087	38	1	923	1	KLRG2	7	139168063	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5475576	139168063	19970600	91	1470											
TAS2R40	259286	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	142919418	142919418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagaacattttcagtctgCtattccgaattgtttataac	7	7	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:142919418C>A	ENST00000408947.3	+	1	289	c.247C>A	c.(247-249)Cta>Ata	p.L83I	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	83					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCAGTCTGCTATTCCGAAT	0.438																																					p.L83I		.											.	TAS2R40-23	0			c.C247A						.						132	128	130					7																	142919418		1913	4140	6053	SO:0001583	missense	259286	exon1			AGTCTGCTATTCC	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.247C>A	7.37:g.142919418C>A	ENSP00000386210:p.Leu83Ile	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	70	6	NM_176882	0	0	0	0	0	A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941022	0.34283	.	.	ENSG00000221937	ENST00000408947	T	0.40756	1.02	4.56	-1.93	0.07594	.	0.857477	0.09587	U	0.781988	T	0.35770	0.0943	L	0.58669	1.825	0.09310	N	1	B	0.23128	0.08	B	0.31016	0.123	T	0.40553	-0.9557	10	0.30854	T	0.27	.	5.4164	0.16376	0.0:0.3859:0.2409:0.3732	.	83	P59535	T2R40_HUMAN	I	83	ENSP00000386210:L83I	ENSP00000386210:L83I	L	+	1	2	TAS2R40	142629540	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.568000	0.05909	-0.331000	0.08501	0.655000	0.94253	CTA	.		0.438	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			A	142919418	C	A	142919418	3	1	8	1	0	0	0	0	1	0	0	0	15625	796	28	3	249	3	TAS2R40	7	142919418	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3751355	142919418	16219245	92	1471											
OR2A14	135941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143826247	143826247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacagacatcaccttgccGcgattccaggttggtccagc	9	14	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:143826247G>A	ENST00000408899.2	+	1	97	c.42G>A	c.(40-42)ccG>ccA	p.P14P		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P14P(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCACCTTGCCGCGATTCCAGG	0.517																																					p.P14P		.											.	OR2A14-90	1	Substitution - coding silent(1)	lung(1)	c.G42A						.						101	100	100					7																	143826247		2038	4191	6229	SO:0001819	synonymous_variant	135941	exon1			CTTGCCGCGATTC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.42G>A	7.37:g.143826247G>A		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	187	57	NM_001001659	0	0	0	0	0	Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	CCDS43672.1																																																																																			.		0.517	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			A	143826247	G	A	143826247	2	1	8	1	0	0	0	0	0	0	0	1	11015	1074	38	1		1	OR2A14	7	143826247	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	906829	143826247	15312416	93	1472											
OR2A14	135941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	143826338	143826338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggaatggggtcatcTttgggattatctgcctggac	15	7	3	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:143826338T>G	ENST00000408899.2	+	1	188	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGGGGTCATCTTTGGGATTAT	0.507																																					p.F45V		.											.	OR2A14-90	0			c.T133G						.						192	189	190					7																	143826338		2073	4241	6314	SO:0001583	missense	135941	exon1			GTCATCTTTGGGA		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.133T>G	7.37:g.143826338T>G	ENSP00000386137:p.Phe45Val	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	276	27	NM_001001659	0	0	0	0	0	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	0.173	-1.069567	0.01918	.	.	ENSG00000221938	ENST00000408899	T	0.00357	7.89	4.18	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09335	-1.0679	9	0.38643	T	0.18	-1.3499	5.7512	0.18148	0.0:0.2711:0.2585:0.4704	.	45	Q96R47	O2A14_HUMAN	V	45	ENSP00000386137:F45V	ENSP00000386137:F45V	F	+	1	0	OR2A14	143457271	0.000000	0.05858	0.006000	0.13384	0.039000	0.13416	-2.184000	0.01254	-0.913000	0.03832	-0.366000	0.07423	TTT	.		0.507	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			G	143826338	T	G	143826338	3	3	8	1	0	0	0	0	1	0	0	0	11015	1609	56	5	135	5	OR2A14	7	143826338	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	91	143826338	15312325	94	1473											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062343	144062343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccaaagtccagggggAggagcaggagcactcgggga	17	11	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:144062343A>T	ENST00000056217.5	+	2	2755	c.2581A>T	c.(2581-2583)Agg>Tgg	p.R861W	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	861					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GTCCAGGGGGAGGAGCAGGAG	0.592																																					p.R861W		.											.	ARHGEF5-229	0			c.A2581T						.						65	74	71					7																	144062343		2201	4298	6499	SO:0001583	missense	7984	exon2			AGGGGGAGGAGCA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2581A>T	7.37:g.144062343A>T	ENSP00000056217:p.Arg861Trp	Somatic	331	2		WXS	Illumina GAIIx	Phase_I	392	9	NM_005435	0	0	0	0	0	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892564	0.33442	.	.	ENSG00000050327	ENST00000056217	T	0.80566	-1.39	4.05	2.84	0.33178	.	0.352939	0.23012	N	0.052959	T	0.81437	0.4822	L	0.34521	1.04	0.24573	N	0.993913	D	0.76494	0.999	D	0.72982	0.979	T	0.70612	-0.4824	10	0.87932	D	0	-11.7374	7.2598	0.26197	0.7739:0.2261:0.0:0.0	.	861	Q12774	ARHG5_HUMAN	W	861	ENSP00000056217:R861W	ENSP00000056217:R861W	R	+	1	2	ARHGEF5	143693276	0.003000	0.15002	0.219000	0.23793	0.011000	0.07611	0.645000	0.24782	0.583000	0.29574	0.454000	0.30748	AGG	.		0.592	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		T	144062343	A	T	144062343	3	4	8	1	0	0	0	0	1	0	0	0	909	295	11	5	2583	5	ARHGEF5	7	144062343	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	236005	144062343	15076320	95	1474											
C7orf33	202865	bcgsc.ca	37	chr7	148311375	148311375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggaggacagtgacaaGttcatacctaaacgtaagct	11	9	1	1	rs145413433		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr7:148311375G>T	ENST00000307003.2	+	2	807	c.446G>T	c.(445-447)aGt>aTt	p.S149I		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	149										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACAGTGACAAGTTCATACCTA	0.478																																					p.S149I		.											.	C7orf33-90	0			c.G446T						.						128	106	114					7																	148311375		2203	4300	6503	SO:0001583	missense	202865	exon2			TGACAAGTTCATA	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.446G>T	7.37:g.148311375G>T	ENSP00000304071:p.Ser149Ile	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	188	9	NM_145304	0	0	0	0	0		Missense_Mutation	SNP	ENST00000307003.2	37	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	6.324	0.427789	0.11987	.	.	ENSG00000170279	ENST00000307003	.	.	.	1.88	-1.15	0.09709	.	.	.	.	.	T	0.22437	0.0541	N	0.19112	0.55	0.09310	N	1	P	0.51537	0.946	P	0.50934	0.654	T	0.12578	-1.0542	8	0.87932	D	0	.	2.3867	0.04367	0.3552:0.2997:0.3451:0.0	.	149	Q8WU49	CG033_HUMAN	I	149	.	ENSP00000304071:S149I	S	+	2	0	C7orf33	147942308	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.078000	0.11375	-0.257000	0.09459	0.462000	0.41574	AGT	G|1.000;A|0.000		0.478	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		T	148311375	G	T	148311375	3	4	8	1	0	0	0	0	1	0	0	0	2395	1029	36	3	452	3	C7orf33	7	148311375	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	4249032	148311375	10827288	96	1475											
ADCY8	114	hgsc.bcm.edu	37	chr8	132052342	132052342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctgacagctgcggcgCgtggtggttggggccgccgc	19	13	0	1	rs2228949	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr8:132052342C>T	ENST00000286355.5	-	1	2330	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A80T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	80			A -> T (in dbSNP:rs2228949).		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)			AGCTGCGGCGCGTGGTGGTTG	0.726										HNSCC(32;0.087)			C|||	90	0.0179712	0.0015	0.0187	5008	,	,		11522	0		0.0338	False		,,,				2504	0.0419				p.A80T		.											.	ADCY8-157	0			c.G238A						.	C	THR/ALA	20,3732		0,20,1856	3	3	3		238	4.6	1	8	dbSNP_98	3	227,7205		0,227,3489	no	missense	ADCY8	NM_001115.2	58	0,247,5345	TT,TC,CC		3.0544,0.533,2.2085	benign	80/1252	132052342	247,10937	1876	3716	5592	SO:0001583	missense	114	exon1			GCGGCGCGTGGTG	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.238G>A	8.37:g.132052342C>T	ENSP00000286355:p.Ala80Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	21	NM_001115	0	0	0	0	0		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	43	0.019688644688644688	4	0.008130081300813009	8	0.022099447513812154	4	0.006993006993006993	27	0.03562005277044855	C	18.88	3.716491	0.68844	0.00533	0.030544	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.65916	-0.18;-0.18	4.55	4.55	0.56014	.	0.116934	0.38605	N	0.001630	T	0.12817	0.0311	L	0.36672	1.1	0.29715	N	0.839078	B;B	0.32731	0.076;0.382	B;B	0.15052	0.012;0.012	T	0.09596	-1.0667	10	0.13470	T	0.59	.	6.3928	0.21595	0.0:0.7154:0.187:0.0976	rs2228949	80;80	E7EVL1;P40145	.;ADCY8_HUMAN	T	80	ENSP00000286355:A80T;ENSP00000367161:A80T	ENSP00000286355:A80T	A	-	1	0	ADCY8	132121524	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.772000	0.38552	2.383000	0.81215	0.462000	0.41574	GCG	C|0.979;T|0.021		0.726	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	132052342	C	T	132052342	3	4	8	1	0	0	0	0	1	0	0	0	300	768	27	1	3589	1	ADCY8	8	132052342	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		132052342	14311680	97	1476											
PHF20L1	51105	broad.mit.edu;bcgsc.ca	37	chr8	133816893	133816893	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgttccaaagatggtctTtccacagccagagagcacat	9	11	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr8:133816893T>G	ENST00000395386.2	+	8	1054	c.755T>G	c.(754-756)tTt>tGt	p.F252C	PHF20L1_ENST00000395379.1_Missense_Mutation_p.F252C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F227C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F257C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F226C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	252							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)			AAGATGGTCTTTCCACAGCCA	0.353																																					p.F252C		.											.	PHF20L1-92	0			c.T755G						.						96	89	92					8																	133816893		2203	4300	6503	SO:0001583	missense	51105	exon8			TGGTCTTTCCACA	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.755T>G	8.37:g.133816893T>G	ENSP00000378784:p.Phe252Cys	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	213	8	NM_016018	0	0	7	7	0	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734975	0.69189	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.48836	0.81;0.82;0.82;1.42;0.8;0.81;0.82;1.42	5.5	5.5	0.81552	.	0.203253	0.45867	D	0.000333	T	0.55609	0.1931	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.969	D;D;D;D;P	0.87578	0.966;0.998;0.994;0.965;0.794	T	0.54984	-0.8211	10	0.37606	T	0.19	-9.904	14.7798	0.69756	0.0:0.0:0.0:1.0	.	227;91;252;252;226	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	256;252;227;252;252;226;257;122;227;91	ENSP00000378781:F256C;ENSP00000378777:F252C;ENSP00000355301:F227C;ENSP00000378784:F252C;ENSP00000324519:F252C;ENSP00000338269:F226C;ENSP00000378775:F257C;ENSP00000378788:F227C	ENSP00000324519:F252C	F	+	2	0	PHF20L1	133886075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.645000	0.46621	2.098000	0.63641	0.477000	0.44152	TTT	.		0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133816893	T	G	133816893	3	3	8	1	0	0	0	0	1	0	0	0	11871	1841	64	5	781	5	PHF20L1	8	133816893	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	1764551	133816893	12547129	98	1477											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139609190	139609190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaataagccgacgcagGgtttccatggatggagactc	12	9	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr8:139609190G>T	ENST00000303045.6	-	62	4835	c.4389C>A	c.(4387-4389)acC>acA	p.T1463T	COL22A1_ENST00000435777.1_Silent_p.T1443T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1463	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)			GCCGACGCAGGGTTTCCATGG	0.522										HNSCC(7;0.00092)																											p.T1463T		.											.	COL22A1-103	0			c.C4389A						.						147	149	148					8																	139609190		2203	4300	6503	SO:0001819	synonymous_variant	169044	exon62			ACGCAGGGTTTCC	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.4389C>A	8.37:g.139609190G>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	101	20	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			.		0.522	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139609190	G	T	139609190	2	4	8	1	0	0	0	0	0	0	0	1	3688	1219	43	3		3	COL22A1	8	139609190	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5792297	139609190	6754832	99	1478											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	8	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	4769678	144378868	1985154	100	1479											
MAFA	389692	hgsc.bcm.edu	37	chr8	144511538	144511538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaagtcggccgtgcCcttggccccgccgggaccgg	16	15	0	1	rs62521874	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr8:144511538C>A	ENST00000333480.2	-	1	1038	c.1039G>T	c.(1039-1041)Ggc>Tgc	p.G347C	MAFA_ENST00000528185.1_Intron	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	347					insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	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;0.237)			TCGGCCGTGCCCTTGGCCCCG	0.791										HNSCC(29;0.082)			.|||	216	0.043131	0.0015	0.0432	5008	,	,		7958	0.0546		0.0805	False		,,,				2504	0.0491				p.G347C		.											.	MAFA-278	0			c.G1039T						.						1	1	1					8																	144511538		583	1267	1850	SO:0001583	missense	389692	exon1			CCGTGCCCTTGGC	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.1039G>T	8.37:g.144511538C>A	ENSP00000328364:p.Gly347Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_201589	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333480.2	37	CCDS34955.1	117	0.05357142857142857	8	0.016260162601626018	16	0.04419889502762431	27	0.0472027972027972	66	0.0870712401055409	c	12.29	1.892291	0.33442	.	.	ENSG00000182759	ENST00000333480	D	0.98329	-4.87	2.95	2.95	0.34219	.	0.473148	0.18433	U	0.141380	T	0.54806	0.1881	N	0.08118	0	0.29259	N	0.871434	D	0.56746	0.977	P	0.49561	0.615	T	0.75476	-0.3304	10	0.37606	T	0.19	.	12.4259	0.55546	0.0:1.0:0.0:0.0	rs62521874	347	Q8NHW3	MAFA_HUMAN	C	347	ENSP00000328364:G347C	ENSP00000328364:G347C	G	-	1	0	MAFA	144582681	0.989000	0.36119	0.957000	0.39632	0.383000	0.30230	2.086000	0.41643	1.183000	0.42943	0.282000	0.19409	GGC	C|0.946;A|0.054		0.791	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		A	144511538	C	A	144511538	3	1	8	1	0	0	0	0	1	0	0	0	9193	623	22	3	26	3	MAFA	8	144511538	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	132670	144511538	1852484	101	1480											
C9orf66	157983	hgsc.bcm.edu	37	chr9	215057	215057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccccgcggcgcgcaggtTgcggccggacagcccagcgc	16	19	0	0	rs481905	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:215057T>C	ENST00000382387.2	-	1	836	c.340A>G	c.(340-342)Aac>Gac	p.N114D	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	114										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGCGCAGGTTGCGGCCGGAC	0.736													C|||	3213	0.641573	0.705	0.611	5008	,	,		9955	0.7401		0.4811	False		,,,				2504	0.6411				p.N114D		.											.	C9orf66-514	0			c.A340G						.	C	,ASP/ASN	1480,1394		426,628,383	3	4	4		,340	1.6	0	9	dbSNP_83	4	2555,3973		602,1351,1311	yes	intron,missense	DOCK8,C9orf66	NM_203447.3,NM_152569.2	,23	1028,1979,1694	CC,CT,TT		39.1391,48.5038,42.9164	,benign	,114/296	215057	4035,5367	1437	3264	4701	SO:0001583	missense	157983	exon1			GCAGGTTGCGGCC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.340A>G	9.37:g.215057T>C	ENSP00000371824:p.Asn114Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	1282	0.586996336996337	342	0.6951219512195121	195	0.5386740331491713	381	0.666083916083916	364	0.48021108179419525	C	9.821	1.185669	0.21870	0.514962	0.391391	ENSG00000183784	ENST00000382387	T	0.22539	1.95	2.56	1.6	0.23607	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.47153	P	6.620000000000514E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	8	0.87932	D	0	.	4.3	0.10920	0.0:0.6131:0.2361:0.1509	rs481905;rs58620149	114	Q5T8R8	CI066_HUMAN	D	114	ENSP00000371824:N114D	ENSP00000371824:N114D	N	-	1	0	C9orf66	205057	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.471000	0.06631	-0.029000	0.13827	-0.642000	0.03964	AAC	T|0.413;C|0.587		0.736	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	215057	T	C	215057	3	2	8	1	0	0	0	0	1	0	0	0	2497	1812	63	4	551	4	C9orf66	9	215057	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10		215057	140998374	102	1481											
FAM75A3	727830	broad.mit.edu;bcgsc.ca	37	chr9	40702725	40702725	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accccccaggtgaggtgggcGaaagagcacctgatggagcc	15	12	0	3	rs554911040		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:40702725G>T	ENST00000356699.5	+	4	411	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	128	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E128*(2)									TGAGGTGGGCGAAAGAGCACC	0.602																																					p.E128X		.											.	.	2	Substitution - Nonsense(2)	kidney(2)	c.G382T						.						13	13	13					9																	40702725		1132	2914	4046	SO:0001587	stop_gained	727830	exon4			GTGGGCGAAAGAG			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.382G>T	9.37:g.40702725G>T	ENSP00000349132:p.Glu128*	Somatic	969	0		WXS	Illumina GAIIx	Phase_I	856	50	NM_001083124	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801027	0.31869	.	.	ENSG00000147926	ENST00000356699	.	.	.	2.19	-1.88	0.07713	.	0.593182	0.15064	N	0.282606	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7614	5.8906	0.18911	0.5124:0.0:0.4876:0.0	.	.	.	.	X	128	.	ENSP00000349132:E128X	E	+	1	0	FAM75A3	40692725	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.216000	0.09266	-0.463000	0.06973	-1.750000	0.00680	GAA	.		0.602	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		T	40702725	G	T	40702725	4	4	8	1	0	0	0	0	0	1	0	0	5643	1059	37	2	396	2	FAM75A3	9	40702725	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	40487668	40702725	100510706	103	1482											
ZCCHC6	79670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	88918065	88918065	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaattcgacaacatctatCatttggggccagctctcctt	6	12	3	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:88918065C>A	ENST00000375963.3	-	25	4202	c.4030G>T	c.(4030-4032)Gat>Tat	p.D1344Y	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.D244Y|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1306Y|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D1108Y|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.D633Y	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1344					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAACATCTATCATTTGGGGCC	0.378																																					p.D1344Y		.											.	ZCCHC6-92	0			c.G4030T						.						118	124	122					9																	88918065		2203	4300	6503	SO:0001583	missense	79670	exon25			ATCTATCATTTGG	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4030G>T	9.37:g.88918065C>A	ENSP00000365130:p.Asp1344Tyr	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	125	11	NM_024617	0	0	9	10	1	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420875	0.83559	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	4.86	4.86	0.63082	Zinc finger, CCHC retroviral-type (1);	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	M	0.65498	2.005	0.80722	D	1	P;D;D	0.89917	0.931;1.0;0.97	P;D;P	0.85130	0.645;0.997;0.655	D	0.88373	0.2996	10	0.87932	D	0	-1.7996	18.5424	0.91033	0.0:1.0:0.0:0.0	.	1306;1108;1344	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	Y	633;1108;1306;244;1344	ENSP00000277141:D633Y;ENSP00000365127:D1108Y;ENSP00000365128:D1306Y;ENSP00000365124:D244Y;ENSP00000365130:D1344Y	ENSP00000277141:D633Y	D	-	1	0	ZCCHC6	88107885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.698000	0.92095	0.557000	0.71058	GAT	.		0.378	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		A	88918065	C	A	88918065	3	1	8	1	0	0	0	0	1	0	0	0	17640	826	29	3	469	3	ZCCHC6	9	88918065	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	48215340	88918065	52295366	104	1483											
WNK2	65268	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	96025908	96025908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagctgtgaaggcgccttTggagggggcaggctggaggg	21	7	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:96025908T>C	ENST00000297954.4	+	14	3471	c.3471T>C	c.(3469-3471)ttT>ttC	p.F1157F	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.F769F|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.F1157F|WNK2_ENST00000427277.2_Silent_p.F769F	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1157					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						AAGGCGCCTTTGGAGGGGGCA	0.607																																					p.F1157F		.											.	WNK2-765	0			c.T3471C						.						41	36	38					9																	96025908		2199	4295	6494	SO:0001819	synonymous_variant	65268	exon14			CGCCTTTGGAGGG	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.3471T>C	9.37:g.96025908T>C		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	74	9	NM_006648	0	0	0	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	10.49|10.49	1.364884|1.364884	0.24684|0.24684	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000411624	.|.	.|.	.|.	5.32|5.32	1.72|1.72	0.24424|0.24424	.|.	.|.	.|.	.|.	.|.	T|T	0.51822|0.51822	0.1697|0.1697	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36648|0.36648	-0.9739|-0.9739	4|4	.|.	.|.	.|.	.|.	5.2519|5.2519	0.15527|0.15527	0.1277:0.2117:0.0:0.6606|0.1277:0.2117:0.0:0.6606	.|.	.|.	.|.	.|.	S|R	1153|761	.|.	.|.	L|W	+|+	2|1	0|0	WNK2|WNK2	95065729|95065729	0.948000|0.948000	0.32251|0.32251	0.705000|0.705000	0.30386|0.30386	0.965000|0.965000	0.64279|0.64279	0.347000|0.347000	0.20014|0.20014	0.110000|0.110000	0.17919|0.17919	-0.383000|-0.383000	0.06682|0.06682	TTG|TGG	.		0.607	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		C	96025908	T	C	96025908	2	2	8	1	0	0	0	0	0	0	0	1	17427	1809	63	4		4	WNK2	9	96025908	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	7107843	96025908	45187523	105	1484											
DBH	1621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	136518101	136518101	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgcacgtacaacacagaaGaccgggagctggccacagtg	12	13	0	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:136518101G>T	ENST00000393056.2	+	9	1426	c.1414G>T	c.(1414-1416)Gac>Tac	p.D472Y	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	472					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CAACACAGAAGACCGGGAGCT	0.602																																					p.D472Y		.											.	DBH-516	0			c.G1414T						.						123	100	108					9																	136518101		2203	4300	6503	SO:0001583	missense	1621	exon9			ACAGAAGACCGGG	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1414G>T	9.37:g.136518101G>T	ENSP00000376776:p.Asp472Tyr	Somatic	249	0		WXS	Illumina GAIIx	Phase_I	264	23	NM_000787	0	0	0	0	0	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016939	0.35606	.	.	ENSG00000123454	ENST00000393056	T	0.66280	-0.2	4.92	2.8	0.32819	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.245733	0.45606	D	0.000360	T	0.73410	0.3583	M	0.73598	2.24	0.38203	D	0.940233	D	0.56521	0.976	D	0.64687	0.928	T	0.76862	-0.2802	10	0.87932	D	0	-21.5302	8.5864	0.33660	0.1588:0.0:0.7079:0.1333	.	472	P09172	DOPO_HUMAN	Y	472	ENSP00000376776:D472Y	ENSP00000376776:D472Y	D	+	1	0	DBH	135507922	1.000000	0.71417	0.586000	0.28679	0.222000	0.24845	4.045000	0.57368	1.049000	0.40321	0.491000	0.48974	GAC	.		0.602	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136518101	G	T	136518101	3	4	8	1	0	0	0	0	1	0	0	0	4259	942	33	3	1448	3	DBH	9	136518101	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	40492193	136518101	4695330	106	1485											
GLT6D1	360203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138517976	138517976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgtaatgtttttccaGgacccgcctgtcgaaagtcc	8	13	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:138517976G>T	ENST00000371763.1	-	4	449	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	66					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGTTTTTCCAGGACCCGCCTG	0.488																																					p.L66M		.											.	GLT6D1-91	0			c.C196A						.						79	82	81					9																	138517976		1876	4097	5973	SO:0001583	missense	360203	exon4			TTTCCAGGACCCG	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.196C>A	9.37:g.138517976G>T	ENSP00000360829:p.Leu66Met	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	144	51	NM_182974	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371763.1	37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809144	0.50421	.	.	ENSG00000204007	ENST00000371763	T	0.02498	4.27	4.18	4.18	0.49190	.	0.000000	0.42294	D	0.000738	T	0.15392	0.0371	M	0.88979	2.995	0.09310	N	1	D	0.76494	0.999	D	0.97110	1.0	T	0.03240	-1.1057	10	0.72032	D	0.01	-25.7749	8.0689	0.30678	0.1095:0.0:0.8904:0.0	.	66	Q7Z4J2	GL6D1_HUMAN	M	66	ENSP00000360829:L66M	ENSP00000360829:L66M	L	-	1	2	GLT6D1	137657797	0.102000	0.21896	0.108000	0.21378	0.013000	0.08279	1.745000	0.38278	2.356000	0.79943	0.609000	0.83330	CTG	.		0.488	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		T	138517976	G	T	138517976	3	4	8	1	0	0	0	0	1	0	0	0	6494	991	35	3	642	3	GLT6D1	9	138517976	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1999875	138517976	2695455	107	1486											
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694613	139694613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggaggagctgcggCtgctgcaggtggagaggcgg	20	9	0	1	rs35342663	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr9:139694613C>A	ENST00000338005.6	+	4	465	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.L174M	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		144										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGAGCTGCGGCTGCTGCAGGT	0.741													C|||	462	0.0922524	0.152	0.0144	5008	,	,		7965	0.1389		0.0219	False		,,,				2504	0.091				p.L144M		.											.	KIAA1984-91	0			c.C430A						.	C	MET/LEU	345,2927		9,327,1300	4	4	4		430	-3.5	0	9	dbSNP_126	4	162,7194		2,158,3518	no	missense	KIAA1984	NM_001039374.4	15	11,485,4818	AA,AC,CC		2.2023,10.544,4.7704	benign	144/535	139694613	507,10121	1636	3678	5314	SO:0001583	missense	84960	exon4			CTGCGGCTGCTGC																												ENST00000338005.6:c.430C>A	9.37:g.139694613C>A	ENSP00000338013:p.Leu144Met	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	21	11	NM_001039374	0	0	0	0	0	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	155	0.07097069597069597	63	0.12804878048780488	6	0.016574585635359115	71	0.12412587412587413	15	0.01978891820580475	C	8.887	0.953003	0.18431	0.10544	0.022023	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.69	-3.55	0.04639	.	1.415250	0.05927	U	0.634446	T	0.00073	0.0002	N	0.21448	0.665	0.80722	P	0.0	B	0.24368	0.102	B	0.23852	0.049	T	0.40098	-0.9581	9	0.45353	T	0.12	-2.6838	3.6184	0.08086	0.384:0.3008:0.0:0.3152	rs35342663;rs59016673;rs62581420	144	Q5T5S1	K1984_HUMAN	M	144	ENSP00000338013:L144M	ENSP00000338013:L144M	L	+	1	2	KIAA1984	138814434	0.000000	0.05858	0.004000	0.12327	0.449000	0.32228	-3.365000	0.00496	-1.346000	0.02211	-0.384000	0.06662	CTG	C|0.928;A|0.072		0.741	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139694613	C	A	139694613	3	1	8	1	0	0	0	0	1	0	0	0	8293	796	28	3	444	3	KIAA1984	9	139694613	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1176637	139694613	1518818	108	1487											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_001077494	0	0	0	6	6	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	8	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10		104159196	31375551	109	1488											
NRAP	4892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	115364490	115364490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctgggcattcttggCatggaccaggtgcaccatgt	13	11	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr10:115364490C>A	ENST00000359988.3	-	35	4349	c.4105G>T	c.(4105-4107)Gcc>Tcc	p.A1369S	NRAP_ENST00000369358.4_Missense_Mutation_p.A1377S|NRAP_ENST00000369360.3_Missense_Mutation_p.A1342S|NRAP_ENST00000360478.3_Missense_Mutation_p.A1334S	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCATTCTTGGCATGGACCAGG	0.612																																					p.A1369S		.											.	NRAP-522	0			c.G4105T						.						127	124	125					10																	115364490		2203	4300	6503	SO:0001583	missense	4892	exon35			TCTTGGCATGGAC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4105G>T	10.37:g.115364490C>A	ENSP00000353078:p.Ala1369Ser	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	102	14	NM_001261463	0	0	0	0	0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708244	0.89018	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.4903	0.95047	0.0:1.0:0.0:0.0	.	527;1369;1334;1369	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	S	1377;1342;1369;1334;527	ENSP00000358365:A1377S;ENSP00000358367:A1342S;ENSP00000353078:A1369S;ENSP00000353666:A1334S	ENSP00000353078:A1369S	A	-	1	0	NRAP	115354480	1.000000	0.71417	0.912000	0.35992	0.736000	0.42039	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	GCC	.		0.612	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115364490	C	A	115364490	3	1	8	1	0	0	0	0	1	0	0	0	10677	710	25	3	1119	3	NRAP	10	115364490	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	11205294	115364490	20170257	110	1489											
CTBP2	1488	hgsc.bcm.edu	37	chr10	126715159	126715160	+	Intron	INS	-	-	GCCGCAGGCTGGGGCTGCAGG													gggatgctgtctgcagaggaINSgccgcagcgcccagagaagc					rs529129641|rs372118432	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr10:126715159_126715160insGCCGCAGGCTGGGGCTGCAGG	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_In_Frame_Ins_p.390_390A>ALQPQPAA|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCTGCAGAGGAGCCGCAGCGCC	0.698														537	0.107228	0.1006	0.2478	5008	,	,		14420	0.0417		0.1093	False		,,,				2504	0.0818				p.A390delinsALQPQPAA		.											.	CTBP2-90	0			c.1170_1171insCCTGCAGCCCCAGCCTGCGGC						.		,,	295,3727		33,229,1749					,,	-1.1	0			8	694,7122		93,508,3307	no	coding,intron,intron	CTBP2	NM_022802.2,NM_001329.2,NM_001083914.1	,,	126,737,5056	A1A1,A1R,RR		8.8792,7.3347,8.3545	,,	,,		989,10849				SO:0001627	intron_variant	1488	exon1			CAGAGGAGCCGCA	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12405->CCTGCAGCCCCAGCCTGCGGC	10.37:g.126715159_126715160insGCCGCAGGCTGGGGCTGCAGG		Somatic	2	1		WXS	Illumina GAIIx	Phase_I	20	9	NM_022802	0	0	0	0	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	In_Frame_Ins	INS	ENST00000337195.5	37	CCDS7643.1																																																																																			.		0.698	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		GCCGCAGGCTGGGGCTGCAGG	126715160	-	GCCGCAGGCTGGGGCTGCAGG	126715159	6	5	8	0	1	1	1	0	0	0	0	0	4007	291	11	0		0	CTBP2	10	126715159	Intron	INS	-	TCGA-OR-A5J8-01A-11D-A29I-10	11350669	126715159	8819588	111	1490											
JAKMIP3	282973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	133930934	133930934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctccgagctcaagggCgccaaaaggcaggtggagga	16	9	2	1	rs369892382		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr10:133930934C>T	ENST00000298622.4	+	2	627	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	163						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCTCAAGGGCGCCAAAAGGC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16932	0		0	False		,,,				2504	0.001				p.G163G		.											.	JAKMIP3-23	0			c.C489T						.	C		0,4352		0,0,2176	66	79	74		489	-9	0.9	10		74	1,8519		0,1,4259	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6435	TT,TC,CC		0.0117,0.0,0.0078		163/845	133930934	1,12871	2176	4260	6436	SO:0001819	synonymous_variant	282973	exon2			CAAGGGCGCCAAA	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.489C>T	10.37:g.133930934C>T		Somatic	198	1		WXS	Illumina GAIIx	Phase_I	206	127	NM_001105521	0	0	0	0	0	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																			.		0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133930934	C	T	133930934	2	4	8	1	0	0	0	0	0	0	0	1	7969	755	27	1		1	JAKMIP3	10	133930934	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	7215775	133930934	1603813	112	1491											
FRG2B	441581	mdanderson.org	37	chr10	135440214	135440214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcactggatggaggagcaGtggagatcggggtcttcatt	17	6	2	1	rs144521881		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr10:135440214G>T	ENST00000425520.1	-	1	85	c.33C>A	c.(31-33)caC>caA	p.H11Q	FRG2B_ENST00000443774.1_Missense_Mutation_p.H11Q	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	11						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGAGGAGCAGTGGAGATCGG	0.498																																					p.H11Q		.											.	.	0			c.C33A						.						275	301	292					10																	135440214		2203	4300	6503	SO:0001583	missense	441581	exon1			GGAGCAGTGGAGA	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.33C>A	10.37:g.135440214G>T	ENSP00000401310:p.His11Gln	Somatic	688	0		WXS	Illumina GAIIx	Phase_I	617	77	NM_001080998	0	0	0	0	0	Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	3.861	-0.029779	0.07589	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.44482	0.92;0.92	0.109	0.109	0.14578	.	2.509510	0.01866	N	0.036921	T	0.32010	0.0815	N	0.24115	0.695	0.09310	N	1	B	0.22909	0.077	B	0.27380	0.079	T	0.34675	-0.9819	9	0.72032	D	0.01	0.2076	.	.	.	.	11	Q96QU4	FRG2B_HUMAN	Q	11	ENSP00000408343:H11Q;ENSP00000401310:H11Q	ENSP00000401310:H11Q	H	-	3	2	FRG2B	135290204	0.997000	0.39634	0.024000	0.17045	0.025000	0.11179	0.831000	0.27476	0.181000	0.19994	0.184000	0.17185	CAC	.		0.498	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		T	135440214	G	T	135440214	3	4	8	1	0	0	0	0	1	0	0	0	6071	1020	36	3	818	3	FRG2B	10	135440214	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1509280	135440214	94533	113	1492											
MUC5B	727897	bcgsc.ca	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	121	17	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	8	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10		1253980	133752536	114	1493											
KRTAP5-3	387266	bcgsc.ca	37	chr11	1629043	1629043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgggaacagcagggTttgcagcagctggactggca	16	9	0	0	rs12795274		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:1629043T>C	ENST00000399685.1	-	1	650	c.573A>G	c.(571-573)aaA>aaG	p.K191K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	191	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		aacagcagggtttgcagcagc	0.632																																					p.K191K		.											.	KRTAP5-3-92	0			c.A573G						.						167	168	168					11																	1629043		2202	4290	6492	SO:0001819	synonymous_variant	387266	exon1			GCAGGGTTTGCAG	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.573A>G	11.37:g.1629043T>C		Somatic	54	3		WXS	Illumina GAIIx	Phase_I	33	15	NM_001012708	0	0	0	0	0	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																			A|0.500;T|0.500		0.632	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			C	1629043	T	C	1629043	2	2	8	1	0	0	0	0	0	0	0	1	8590	1722	60	4		4	KRTAP5-3	11	1629043	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	375063	1629043	133377473	115	1494											
MRGPRE	116534	hgsc.bcm.edu;broad.mit.edu	37	chr11	3249197	3249197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccggaggggcagcctgCggccctgggcactgcccagg	17	16	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:3249197C>T	ENST00000389832.5	-	2	1139	c.833G>A	c.(832-834)cGc>cAc	p.R278H	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R277H			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	278						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)		GGGCAGCCTGCGGCCCTGGGC	0.687																																					p.R278H		.											.	MRGPRE-136	0			c.G833A						.						11	15	14					11																	3249197		1861	4065	5926	SO:0001583	missense	116534	exon2			AGCCTGCGGCCCT	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.833G>A	11.37:g.3249197C>T	ENSP00000374482:p.Arg278His	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	76	6	NM_001039165	0	0	0	0	0	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		.	.	.	.	.	.	.	.	.	.	c	18.87	3.715971	0.68844	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.03065	4.06	3.51	-0.726	0.11170	.	0.677608	0.11982	U	0.510670	T	0.06325	0.0163	L	0.43598	1.365	0.09310	N	1	D	0.76494	0.999	P	0.60415	0.874	T	0.31475	-0.9942	10	0.28530	T	0.3	-3.5781	1.4778	0.02430	0.1688:0.41:0.2467:0.1744	.	277	Q86SM8	MRGRE_HUMAN	H	278;277	ENSP00000393251:R278H	ENSP00000374482:R277H	R	-	2	0	MRGPRE	3205773	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-1.914000	0.01579	-0.439000	0.07222	0.462000	0.41574	CGC	.		0.687	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249197	C	T	3249197	3	4	8	1	0	0	0	0	1	0	0	0	9802	768	27	1	109	1	MRGPRE	11	3249197	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1620154	3249197	131757319	116	1495											
OR51Q1	390061	broad.mit.edu	37	chr11	5443642	5443642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccatgctggccctgaCggacctgggtctcaccctca	9	17	3	1	rs371190479		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:5443642C>T	ENST00000300778.4	+	1	302	c.212C>T	c.(211-213)aCg>aTg	p.T71M	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCCTGACGGACCTGGGT	0.532																																					p.T71M		.											.	OR51Q1-69	0			c.C212T						.						216	190	199					11																	5443642		2201	4297	6498	SO:0001583	missense	390061	exon1			CCCTGACGGACCT	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.212C>T	11.37:g.5443642C>T	ENSP00000300778:p.Thr71Met	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	152	6	NM_001004757	0	0	0	0	0	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311487	0.23821	.	.	ENSG00000167360	ENST00000300778	T	0.02890	4.12	4.86	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.11367	0.0277	M	0.72624	2.21	0.31824	N	0.625533	D	0.89917	1.0	D	0.91635	0.999	T	0.01273	-1.1399	10	0.62326	D	0.03	.	9.0136	0.36157	0.1456:0.7748:0.0:0.0796	.	71	Q8NH59	O51Q1_HUMAN	M	71	ENSP00000300778:T71M	ENSP00000300778:T71M	T	+	2	0	OR51Q1	5400218	0.000000	0.05858	0.998000	0.56505	0.050000	0.14768	-0.163000	0.09997	1.319000	0.45190	-1.780000	0.00649	ACG	.		0.532	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5443642	C	T	5443642	3	4	8	1	0	0	0	0	1	0	0	0	11143	536	19	1	214	1	OR51Q1	11	5443642	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2194445	5443642	129562874	117	1496											
TUB	7275	ucsc.edu;bcgsc.ca	37	chr11	8123050	8123050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcggactacatcgtgatgCagtttggccgggtagcagag	15	9	0	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:8123050C>A	ENST00000299506.2	+	12	1554	c.1405C>A	c.(1405-1407)Cag>Aag	p.Q469K	TUB_ENST00000534099.1_Missense_Mutation_p.Q475K|TUB_ENST00000305253.4_Missense_Mutation_p.Q524K	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	469					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CATCGTGATGCAGTTTGGCCG	0.552																																					p.Q524K		.											.	TUB-91	0			c.C1570A						.						188	150	163					11																	8123050		2201	4296	6497	SO:0001583	missense	7275	exon13			GTGATGCAGTTTG	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1405C>A	11.37:g.8123050C>A	ENSP00000299506:p.Gln469Lys	Somatic	181	3		WXS	Illumina GAIIx	Phase_I	206	144	NM_003320	0	0	0	0	0	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946653	0.92593	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97752	-4.52;-4.52;-4.52	5.08	5.08	0.68730	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.97465	4.01	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	0.98737	1.0715	10	0.87932	D	0	-16.914	18.8214	0.92099	0.0:1.0:0.0:0.0	.	475;469;524	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	K	475;524;469	ENSP00000434400:Q475K;ENSP00000305426:Q524K;ENSP00000299506:Q469K	ENSP00000299506:Q469K	Q	+	1	0	TUB	8079626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.519000	0.84933	0.591000	0.81541	CAG	.		0.552	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		A	8123050	C	A	8123050	3	1	8	1	0	0	0	0	1	0	0	0	16791	711	25	3	1662	3	TUB	11	8123050	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2679408	8123050	126883466	118	1497											
WEE1	7465	hgsc.bcm.edu	37	chr11	9595768	9595768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggacctgttgctgccCggcgcctgcccgggcgcgga	18	14	0	0	rs117347074	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:9595768C>T	ENST00000450114.2	+	1	541	c.288C>T	c.(286-288)ccC>ccT	p.P96P	WEE1_ENST00000299613.6_5'Flank	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	96					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|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)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGTTGCTGCCCGGCGCCTGCC	0.826													C|||	288	0.057508	0.0658	0.0605	5008	,	,		4788	0.005		0.0527	False		,,,				2504	0.1033				p.P96P		.											.	WEE1-1404	0			c.C288T						.						2	2	2					11																	9595768		1140	2650	3790	SO:0001819	synonymous_variant	7465	exon1			GCTGCCCGGCGCC	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.288C>T	11.37:g.9595768C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_003390	0	0	0	0	0	B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1																																																																																			C|0.953;T|0.047		0.826	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		T	9595768	C	T	9595768	2	4	8	1	0	0	0	0	0	0	0	1	17393	639	23	1		1	WEE1	11	9595768	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1472718	9595768	125410748	119	1498											
LDHC	3948	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	18451364	18451364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaaactcgccttgccCtggtccaacgtaatgtggct	12	11	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:18451364C>T	ENST00000541669.1	+	4	436	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	LDHC_ENST00000544105.1_Silent_p.L109L|LDHC_ENST00000280704.4_Silent_p.L109L|LDHC_ENST00000536880.1_Silent_p.L95L|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Silent_p.L109L|LDHC_ENST00000537486.1_Silent_p.L109L			P07864	LDHC_HUMAN	lactate dehydrogenase C	109					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGCCTTGCCCTGGTCCAACG	0.408																																					p.L109L		.											.	LDHC-226	0			c.C325T						.						136	118	124					11																	18451364		2199	4293	6492	SO:0001819	synonymous_variant	3948	exon4			CTTGCCCTGGTCC	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.325C>T	11.37:g.18451364C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	87	7	NM_002301	0	0	0	0	0	D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	CCDS7840.1																																																																																			.		0.408	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		T	18451364	C	T	18451364	2	4	8	1	0	0	0	0	0	0	0	1	8730	680	24	3		3	LDHC	11	18451364	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8855596	18451364	116555152	120	1499											
OR1S2	219958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57970736	57970736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacctttcatatccttattCctcaagctgtagatgaaggg	8	10	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:57970736C>A	ENST00000302592.6	-	1	917	c.918G>T	c.(916-918)agG>agT	p.R306S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TATCCTTATTCCTCAAGCTGT	0.438																																					p.R306S		.											.	OR1S2-69	0			c.G918T						.						143	141	142					11																	57970736		2201	4296	6497	SO:0001583	missense	219958	exon1			CTTATTCCTCAAG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.918G>T	11.37:g.57970736C>A	ENSP00000305469:p.Arg306Ser	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	184	51	NM_001004459	0	0	0	0	0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309961	0.60414	.	.	ENSG00000197887	ENST00000302592	T	0.39592	1.07	4.75	1.79	0.24919	.	0.000000	0.49916	D	0.000135	T	0.70666	0.3250	H	0.95365	3.66	0.32500	N	0.538974	D	0.89917	1.0	D	0.85130	0.997	T	0.78357	-0.2235	10	0.87932	D	0	.	10.1753	0.42935	0.0:0.7809:0.0:0.2191	.	306	Q8NGQ3	OR1S2_HUMAN	S	306	ENSP00000305469:R306S	ENSP00000305469:R306S	R	-	3	2	OR1S2	57727312	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.457000	0.21875	0.300000	0.22699	0.655000	0.94253	AGG	.		0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57970736	C	A	57970736	3	1	8	1	0	0	0	0	1	0	0	0	11012	854	30	3	62	3	OR1S2	11	57970736	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	39519372	57970736	77035780	121	1500											
RPS6KA4	8986	hgsc.bcm.edu	37	chr11	64138905	64138905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgagcccccgtcgccTccaaaggggccccccgccga	13	21	0	0	rs17857342	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:64138905T>G	ENST00000334205.4	+	17	2337	c.2272T>G	c.(2272-2274)Tcc>Gcc	p.S758A	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.S510A|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.S751A	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	758	Required for nuclear targeting and association with MAPK14.		S -> A (in dbSNP:rs17857342). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.3}.		axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCGTCGCCTCCAAAGGGGC	0.746													G|||	1267	0.252995	0.0514	0.3833	5008	,	,		6140	0.2123		0.3708	False		,,,				2504	0.3538				p.S758A		.											.	RPS6KA4-1036	0			c.T2272G						.	G	ALA/SER,ALA/SER	213,3183		11,191,1496	5	7	7		2254,2272	0.3	0	11	dbSNP_123	7	1763,4917		262,1239,1839	no	missense,missense	RPS6KA4	NM_001006944.1,NM_003942.2	99,99	273,1430,3335	GG,GT,TT		26.3922,6.2721,19.611	benign,benign	752/767,758/773	64138905	1976,8100	1698	3340	5038	SO:0001583	missense	8986	exon17			GTCGCCTCCAAAG	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2272T>G	11.37:g.64138905T>G	ENSP00000333896:p.Ser758Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_003942	0	1	0	15	14	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	CCDS8073.1	585	0.26785714285714285	36	0.07317073170731707	128	0.35359116022099446	124	0.21678321678321677	297	0.391820580474934	t	0.003	-2.471938	0.00167	0.062721	0.263922	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.2	4.42	0.286	0.15710	.	0.184892	0.22331	N	0.061478	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.31779	-0.9931	9	0.87932	D	0	.	1.4991	0.02473	0.1652:0.1327:0.2949:0.4072	rs17857342	510;751;758;752	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	A	751;758;510	ENSP00000435580:S751A;ENSP00000333896:S758A;ENSP00000294261:S510A	ENSP00000294261:S510A	S	+	1	0	RPS6KA4	63895481	0.048000	0.20356	0.001000	0.08648	0.004000	0.04260	-0.066000	0.11598	-0.570000	0.06022	-2.538000	0.00180	TCC	T|0.731;G|0.269		0.746	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		G	64138905	T	G	64138905	3	3	8	1	0	0	0	0	1	0	0	0	13698	1551	54	5	2338	5	RPS6KA4	11	64138905	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	6168169	64138905	70867611	122	1501											
IGHMBP2	3508	bcgsc.ca	37	chr11	68682402	68682402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcctcctggagtccAttcagcagcactccctggat	9	17	1	0	rs10896380	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:68682402A>G	ENST00000255078.3	+	6	934	c.823A>G	c.(823-825)Att>Gtt	p.I275V	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	275	Leu-rich.		I -> V (in dbSNP:rs10896380). {ECO:0000269|PubMed:8349627}.		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGGAGTCCATTCAGCAGCA	0.597													A|||	600	0.119808	0.1074	0.1888	5008	,	,		15618	0.0149		0.2674	False		,,,				2504	0.044				p.I275V		.											.	IGHMBP2-90	0			c.A823G						.	A	VAL/ILE	545,3855	246.8+/-255.3	37,471,1692	102	92	95		823	0.1	0.4	11	dbSNP_120	95	2127,6461	366.2+/-334.2	258,1611,2425	yes	missense	IGHMBP2	NM_002180.2	29	295,2082,4117	GG,GA,AA		24.7671,12.3864,20.5728	benign	275/994	68682402	2672,10316	2200	4294	6494	SO:0001583	missense	3508	exon6			GAGTCCATTCAGC	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.823A>G	11.37:g.68682402A>G	ENSP00000255078:p.Ile275Val	Somatic	136	1		WXS	Illumina GAIIx	Phase_I	133	5	NM_002180	0	0	0	0	0	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	343	0.15705128205128205	60	0.12195121951219512	73	0.20165745856353592	11	0.019230769230769232	199	0.262532981530343	A	5.864	0.343588	0.11126	0.123864	0.247671	ENSG00000132740	ENST00000255078	T	0.81078	-1.45	3.71	0.0501	0.14292	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.262406	0.37012	N	0.002293	T	0.00012	0.0000	N	0.02854	-0.475	0.09310	P	1.0	B	0.10296	0.003	B	0.15870	0.014	T	0.04915	-1.0918	9	0.02654	T	1	-23.5642	3.4248	0.07406	0.5127:0.0:0.3163:0.171	rs10896380;rs17533010;rs60474416;rs10896380	275	P38935	SMBP2_HUMAN	V	275	ENSP00000255078:I275V	ENSP00000255078:I275V	I	+	1	0	IGHMBP2	68438978	0.869000	0.29996	0.423000	0.26634	0.699000	0.40488	1.576000	0.36504	-0.090000	0.12462	0.454000	0.30748	ATT	A|0.824;G|0.176		0.597	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		G	68682402	A	G	68682402	3	3	8	1	0	0	0	0	1	0	0	0	7618	217	8	4	845	4	IGHMBP2	11	68682402	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	4543497	68682402	66324114	123	1502											
DHCR7	1717	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	71149950	71149950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgttgaccaggaccatgGcattggtcacatggctgtgg	15	9	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:71149950G>A	ENST00000355527.3	-	7	1082	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A269V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	269					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGACCATGGCATTGGTCAC	0.622									Smith-Lemli-Opitz syndrome																												p.A269V		.											.	DHCR7-228	0			c.C806T						.						75	70	71					11																	71149950		2200	4294	6494	SO:0001583	missense	1717	exon7	Familial Cancer Database	SLOS type I & II	ACCATGGCATTGG	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.806C>T	11.37:g.71149950G>A	ENSP00000347717:p.Ala269Val	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	60	9	NM_001163817	0	0	2	2	0	B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250405	0.80024	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137;ENST00000527316	D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72	4.53	4.53	0.55603	.	0.112802	0.64402	D	0.000007	D	0.96390	0.8822	L	0.54965	1.715	0.40830	D	0.983589	P	0.36837	0.571	B	0.39876	0.312	D	0.97423	1.0010	10	0.72032	D	0.01	-42.5377	14.8164	0.70039	0.0:0.0:1.0:0.0	.	269	Q9UBM7	DHCR7_HUMAN	V	269;269;19;58;237	ENSP00000384739:A269V;ENSP00000347717:A269V;ENSP00000435011:A19V;ENSP00000435956:A58V;ENSP00000435047:A237V	ENSP00000347717:A269V	A	-	2	0	DHCR7	70827598	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	8.579000	0.90781	2.068000	0.61886	0.485000	0.47835	GCC	.		0.622	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		A	71149950	G	A	71149950	3	1	8	1	0	0	0	0	1	0	0	0	4491	1203	42	3	633	3	DHCR7	11	71149950	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	2467548	71149950	63856566	124	1503											
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	92532969	92532969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caataagagccagcgacgccCttactggtgctagggctgaa	12	11	0	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:92532969C>A	ENST00000298047.6	+	9	6807	c.6790C>A	c.(6790-6792)Ctt>Att	p.L2264I	FAT3_ENST00000525166.1_Missense_Mutation_p.L2114I|FAT3_ENST00000409404.2_Missense_Mutation_p.L2264I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2264	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)				CAGCGACGCCCTTACTGGTGC	0.428										TCGA Ovarian(4;0.039)																											p.L2264I		.											.	FAT3-73	0			c.C6790A						.						81	73	76					11																	92532969		1908	4116	6024	SO:0001583	missense	120114	exon9			GACGCCCTTACTG	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.6790C>A	11.37:g.92532969C>A	ENSP00000298047:p.Leu2264Ile	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	136	19	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	11.60	1.688345	0.29962	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60920	0.15;0.15;0.15	5.94	3.96	0.45880	.	.	.	.	.	T	0.64148	0.2572	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.62253	-0.6893	9	0.49607	T	0.09	.	9.6532	0.39910	0.1403:0.7837:0.0:0.076	.	2264	Q8TDW7-3	.	I	2264;2264;2114	ENSP00000298047:L2264I;ENSP00000387040:L2264I;ENSP00000432586:L2114I	ENSP00000298047:L2264I	L	+	1	0	FAT3	92172617	0.994000	0.37717	0.968000	0.41197	0.300000	0.27592	3.166000	0.50785	0.731000	0.32448	0.650000	0.86243	CTT	.		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92532969	C	A	92532969	3	1	8	1	0	0	0	0	1	0	0	0	5713	681	24	3	6824	3	FAT3	11	92532969	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	21383019	92532969	42473547	125	1504											
KBTBD3	143879	broad.mit.edu	37	chr11	105924412	105924412	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccgtaactcgaaagactaGatcctggcaaatcaatcagg	8	11	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr11:105924412G>T	ENST00000526793.1	-	3	1163	c.1004C>A	c.(1003-1005)tCt>tAt	p.S335Y	KBTBD3_ENST00000531837.1_Missense_Mutation_p.S335Y|KBTBD3_ENST00000534815.1_Missense_Mutation_p.S256Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	331										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CGAAAGACTAGATCCTGGCAA	0.383																																					p.S335Y		.											.	KBTBD3-91	0			c.C1004A						.						79	78	78					11																	105924412		2201	4298	6499	SO:0001583	missense	143879	exon3			AGACTAGATCCTG	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1004C>A	11.37:g.105924412G>T	ENSP00000436262:p.Ser335Tyr	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	31	3	NM_152433	0	0	0	0	0	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	4.395	0.073001	0.08485	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.67171	-0.25;-0.25;-0.25	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.047462	0.85682	D	0.000000	T	0.65790	0.2725	N	0.14661	0.345	0.50467	D	0.999872	D;D	0.71674	0.978;0.998	P;D	0.63488	0.719;0.915	T	0.57682	-0.7769	10	0.06099	T	0.92	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	335;331	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Y	256;335;335	ENSP00000431910:S256Y;ENSP00000436262:S335Y;ENSP00000432163:S335Y	ENSP00000436262:S335Y	S	-	2	0	KBTBD3	105429622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.115000	0.77110	2.835000	0.97688	0.591000	0.81541	TCT	.		0.383	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		T	105924412	G	T	105924412	3	4	8	1	0	0	0	0	1	0	0	0	8021	942	33	3	838	3	KBTBD3	11	105924412	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	13391443	105924412	29082104	126	1505											
CHD4	1108	broad.mit.edu	37	chr12	6710509	6710509	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctccacagggggaggtgGtggtgcaacctcagtggctg	16	11	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:6710509G>C	ENST00000357008.2	-	6	908	c.745C>G	c.(745-747)Cca>Gca	p.P249A	CHD4_ENST00000544040.1_Missense_Mutation_p.P242A|CHD4_ENST00000544484.1_Missense_Mutation_p.P246A|CHD4_ENST00000309577.6_Missense_Mutation_p.P249A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	249	Poly-Pro.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGGGGAGGTGGTGGTGCAACC	0.592																																					p.P249A	Colon(32;586 792 4568 16848 45314)	.											.	CHD4-228	0			c.C745G						.						95	98	97					12																	6710509		2203	4300	6503	SO:0001583	missense	1108	exon6			GAGGTGGTGGTGC	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.745C>G	12.37:g.6710509G>C	ENSP00000349508:p.Pro249Ala	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	183	6	NM_001273	0	0	7	7	0	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436155	0.25813	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.89810	-2.55;-2.57;-2.56;-2.56;0.89	5.73	5.73	0.89815	.	0.206608	0.41396	D	0.000892	D	0.86464	0.5939	L	0.47190	1.495	0.47341	D	0.999398	P;P;B	0.46578	0.759;0.88;0.004	B;B;B	0.42188	0.379;0.345;0.011	D	0.84607	0.0676	10	0.25106	T	0.35	2.4203	17.6812	0.88243	0.0:0.0:1.0:0.0	.	249;249;242	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	246;242;249;249;223;249	ENSP00000440392:P246A;ENSP00000440542:P242A;ENSP00000312419:P249A;ENSP00000349508:P249A;ENSP00000437506:P249A	ENSP00000312419:P249A	P	-	1	0	CHD4	6580770	0.993000	0.37304	0.240000	0.24138	0.998000	0.95712	2.386000	0.44380	2.705000	0.92388	0.555000	0.69702	CCA	.		0.592	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6710509	G	C	6710509	3	2	8	1	0	0	0	0	1	0	0	0	3334	1261	44	3	5133	3	CHD4	12	6710509	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		6710509	127141386	127	1506											
ZNF384	171017	hgsc.bcm.edu	37	chr12	6777081	6777081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctgttgctgctgctgCtgctgctgctgctgctgctg	16	11	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:6777081C>T	ENST00000396801.3	-	11	1740	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396799.2_Silent_p.Q450Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000361959.3_Silent_p.Q511Q|ZNF384_ENST00000355772.4_Silent_p.Q395Q|ZNF384_ENST00000396795.1_Silent_p.Q450Q|ZNF384_ENST00000319770.3_Silent_p.Q434Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	511	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgctgctgctgctgctgct	0.667			T	"EWSR1, TAF15 "	ALL																																p.Q511Q		.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384-1083	0			c.G1533A						.						15	19	18					12																	6777081		2200	4287	6487	SO:0001819	synonymous_variant	171017	exon11			CTGCTGCTGCTGC	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1533G>A	12.37:g.6777081C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	72	6	NM_001135734	0	0	160	161	1	O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	CCDS44817.1																																																																																			.		0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			T	6777081	C	T	6777081	2	4	8	1	0	0	0	0	0	0	0	1	17923	796	28	3		3	ZNF384	12	6777081	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	66572	6777081	127074814	128	1507											
USP15	9958	ucsc.edu;bcgsc.ca	37	chr12	62778065	62778065	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttagttagaatggatccActtaccaaacctatgcaggt	7	9	0	1	rs2044846	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:62778065A>G	ENST00000280377.5	+	11	1513	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	USP15_ENST00000393654.3_Silent_p.P460P|USP15_ENST00000353364.3_Silent_p.P456P	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	485	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATGGATCCACTTACCAAAC	0.308													G|||	2806	0.560304	0.5212	0.5634	5008	,	,		13820	0.5813		0.6332	False		,,,				2504	0.5143				p.P485P	Melanoma(181;615 2041 39364 49691 50001)	.											.	USP15-1084	0			c.A1455G						.	G		2353,2053	558.7+/-380.1	643,1067,493	66	59	62		1368	0.1	1	12	dbSNP_94	62	5368,3230	482.7+/-370.9	1696,1976,627	no	coding-synonymous	USP15	NM_006313.1		2339,3043,1120	GG,GA,AA		37.5669,46.5956,40.626		456/953	62778065	7721,5283	2203	4299	6502	SO:0001819	synonymous_variant	9958	exon11			GGATCCACTTACC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1455A>G	12.37:g.62778065A>G		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	61	6	NM_001252078	0	0	6	6	0	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	CCDS58251.1																																																																																			A|0.415;G|0.585		0.308	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		G	62778065	A	G	62778065	2	3	8	1	0	0	0	0	0	0	0	1	17095	146	6	4		4	USP15	12	62778065	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	56000984	62778065	71073830	129	1508											
NUP107	57122	broad.mit.edu;bcgsc.ca	37	chr12	69129046	69129046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagggcatttggatgcCctaactgctgatgtgaagga	14	6	0	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:69129046C>T	ENST00000229179.4	+	26	2756	c.2424C>T	c.(2422-2424)gcC>gcT	p.A808A	NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Silent_p.A779A|NUP107_ENST00000378905.2_Silent_p.A569A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	808					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTTGGATGCCCTAACTGCTG	0.373																																					p.A808A		.											.	NUP107-629	0			c.C2424T						.						327	291	303					12																	69129046		2203	4300	6503	SO:0001819	synonymous_variant	57122	exon26			GGATGCCCTAACT	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2424C>T	12.37:g.69129046C>T		Somatic	232	2		WXS	Illumina GAIIx	Phase_I	299	11	NM_020401	0	0	123	127	4	B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	CCDS8985.1																																																																																			.		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		T	69129046	C	T	69129046	2	4	8	1	0	0	0	0	0	0	0	1	10792	610	22	3		3	NUP107	12	69129046	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	6350981	69129046	64722849	130	1509											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	8	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	27208137	96337183	37514712	131	1510											
NEDD1	121441	broad.mit.edu;bcgsc.ca	37	chr12	97345221	97345221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctagagaagcatgccAtagggacattgtgaatttgc	10	8	1	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:97345221A>G	ENST00000266742.4	+	15	2162	c.1823A>G	c.(1822-1824)cAt>cGt	p.H608R	NEDD1_ENST00000411739.2_Missense_Mutation_p.H519R|NEDD1_ENST00000457368.2_Missense_Mutation_p.H519R|NEDD1_ENST00000429527.2_Missense_Mutation_p.H608R|NEDD1_ENST00000557644.1_Missense_Mutation_p.H615R	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	608					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAGCATGCCATAGGGACATT	0.299																																					p.H615R		.											.	NEDD1-90	0			c.A1844G						.						78	82	80					12																	97345221		2203	4289	6492	SO:0001583	missense	121441	exon14			CATGCCATAGGGA		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1823A>G	12.37:g.97345221A>G	ENSP00000266742:p.His608Arg	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	171	6	NM_001135175	0	0	0	0	0	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070409	0.76301	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.60171	0.22;0.22;1.0;0.21;1.0	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	L	0.61036	1.89	0.58432	D	0.999999	D;P	0.89917	1.0;0.473	D;B	0.83275	0.996;0.157	T	0.73883	-0.3842	10	0.46703	T	0.11	.	16.3736	0.83374	1.0:0.0:0.0:0.0	.	615;608	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	R	608;608;519;615;519	ENSP00000266742:H608R;ENSP00000404978:H608R;ENSP00000411307:H519R;ENSP00000451211:H615R;ENSP00000407964:H519R	ENSP00000266742:H608R	H	+	2	0	NEDD1	95869352	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.419000	0.66435	2.273000	0.75805	0.482000	0.46254	CAT	.		0.299	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			G	97345221	A	G	97345221	3	3	8	1	0	0	0	0	1	0	0	0	10348	217	8	4	1898	4	NEDD1	12	97345221	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	1008038	97345221	36506674	132	1511											
KDM2B	84678	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	121882310	121882310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcagtttggaagctcGtcgttgaccacaccctctga	9	14	1	2	rs371581440		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:121882310G>C	ENST00000377071.4	-	15	2205	c.2133C>G	c.(2131-2133)gaC>gaG	p.D711E	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.D79E|KDM2B_ENST00000377069.4_Missense_Mutation_p.D680E	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	711					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGAAGCTCGTCGTTGACCA	0.617																																					p.D711E		.											.	KDM2B-638	0			c.C2133G						.						86	91	89					12																	121882310		2137	4229	6366	SO:0001583	missense	84678	exon15			AAGCTCGTCGTTG	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.2133C>G	12.37:g.121882310G>C	ENSP00000366271:p.Asp711Glu	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	154	30	NM_032590	0	0	2	6	4	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018477	0.35606	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	D;D;D	0.87571	-2.27;-2.27;-2.27	5.81	-1.95	0.07548	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.53938	D	0.000049	T	0.71929	0.3398	L	0.37630	1.12	0.80722	D	1	B;B;B;B	0.25809	0.057;0.135;0.013;0.057	B;B;B;B	0.24155	0.035;0.051;0.015;0.035	T	0.55585	-0.8118	10	0.07990	T	0.79	-31.6371	4.2442	0.10663	0.5521:0.0966:0.255:0.0963	.	151;711;680;151	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	E	711;79;680;711;151;711	ENSP00000437821:D79E;ENSP00000366269:D680E;ENSP00000366271:D711E	ENSP00000261824:D711E	D	-	3	2	KDM2B	120366693	0.180000	0.23148	0.994000	0.49952	0.996000	0.88848	-0.194000	0.09559	-0.246000	0.09611	-0.137000	0.14449	GAC	.		0.617	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		C	121882310	G	C	121882310	3	2	8	1	0	0	0	0	1	0	0	0	8152	1136	40	2	1965	2	KDM2B	12	121882310	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	24537089	121882310	11969585	133	1512											
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	129558465	129558465	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtagttgtgcagctctttGcagtccccagggtccagatc	11	11	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:129558465G>T	ENST00000422113.2	-	9	3581	c.3255C>A	c.(3253-3255)tgC>tgA	p.C1085*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.C623*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1085					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)		GCAGCTCTTTGCAGTCCCCAG	0.507																																					p.C1085X		.											.	TMEM132D-106	0			c.C3255A						.						199	172	182					12																	129558465		2203	4300	6503	SO:0001587	stop_gained	121256	exon9			CTCTTTGCAGTCC	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.3255C>A	12.37:g.129558465G>T	ENSP00000408581:p.Cys1085*	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	188	77	NM_133448	0	0	0	0	0	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.190862	0.98699	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.22	1.29	0.21616	.	0.634660	0.15939	N	0.237271	.	.	.	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.8108	9.645	0.39861	0.247:0.0:0.753:0.0	.	.	.	.	X	623;1085	.	.	C	-	3	2	TMEM132D	128124418	0.010000	0.17322	0.000000	0.03702	0.013000	0.08279	1.011000	0.29911	0.356000	0.24157	-0.253000	0.11424	TGC	.		0.507	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129558465	G	T	129558465	4	4	8	1	0	0	0	0	0	1	0	0	16094	1311	46	3	48	3	TMEM132D	12	129558465	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	7676155	129558465	4293430	134	1513											
PXMP2	5827	hgsc.bcm.edu	37	chr12	133264332	133264332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcgctcgcccagtacCtgctcttcctgcggctctac	12	17	2	0	rs11538534	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr12:133264332C>T	ENST00000317479.3	+	1	141	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	PXMP2_ENST00000545677.1_5'Flank|PXMP2_ENST00000543589.1_Silent_p.L26L|POLE_ENST00000535270.1_5'Flank|PXMP2_ENST00000539093.1_5'Flank|PXMP2_ENST00000428960.2_5'Flank|POLE_ENST00000320574.5_5'Flank|RP13-672B3.2_ENST00000537262.1_5'Flank	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	26						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCCAGTACCTGCTCTTCCT	0.801													c|||	1952	0.389776	0.2231	0.464	5008	,	,		4712	0.3244		0.5706	False		,,,				2504	0.4438				p.L26L		.											.	PXMP2-90	0			c.C76T						.						1	1	1					12																	133264332		888	1858	2746	SO:0001819	synonymous_variant	5827	exon1			CAGTACCTGCTCT		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.76C>T	12.37:g.133264332C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_018663	0	0	7	22	15		Silent	SNP	ENST00000317479.3	37	CCDS9279.1																																																																																			C|0.572;T|0.428		0.801	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		T	133264332	C	T	133264332	2	4	8	1	0	0	0	0	0	0	0	1	12895	680	24	3		3	PXMP2	12	133264332	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3705867	133264332	587563	135	1514											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_005537	0	0	2	6	4	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	8	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		111368316	3801562	136	1515											
SSTR1	6751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	38679240	38679240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgctcatgccagagcccGctcaacgctggctggtgggc	13	14	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:38679240G>A	ENST00000267377.2	+	3	1263	c.646G>A	c.(646-648)Gct>Act	p.A216T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	216					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCCAGAGCCCGCTCAACGCTG	0.602																																					p.A216T		.											.	SSTR1-947	0			c.G646A						.						70	67	68					14																	38679240		2203	4300	6503	SO:0001583	missense	6751	exon3			GAGCCCGCTCAAC		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.646G>A	14.37:g.38679240G>A	ENSP00000267377:p.Ala216Thr	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	97	11	NM_001049	0	0	0	0	0		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468084	0.43839	.	.	ENSG00000139874	ENST00000267377	T	0.36699	1.24	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.235596	0.29342	N	0.012422	T	0.19167	0.0460	N	0.13272	0.32	0.34023	D	0.652854	B	0.18610	0.029	B	0.21708	0.036	T	0.17684	-1.0361	10	0.27785	T	0.31	.	5.5216	0.16936	0.1017:0.0:0.6982:0.2001	.	216	P30872	SSR1_HUMAN	T	216	ENSP00000267377:A216T	ENSP00000267377:A216T	A	+	1	0	SSTR1	37748991	0.209000	0.23505	0.998000	0.56505	0.991000	0.79684	2.058000	0.41374	2.514000	0.84764	0.561000	0.74099	GCT	.		0.602	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			A	38679240	G	A	38679240	3	1	8	1	0	0	0	0	1	0	0	0	15244	1087	38	1	648	1	SSTR1	14	38679240	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		38679240	68670300	137	1516											
TRIM9	114088	hgsc.bcm.edu	37	chr14	51492067	51492067	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagtccgttcagcgcctgGgagagctggctctgcaaaga	14	11	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:51492067G>T	ENST00000298355.3	-	2	1955	c.834C>A	c.(832-834)tcC>tcA	p.S278S	TRIM9_ENST00000360392.4_Silent_p.S278S|TRIM9_ENST00000338969.5_Silent_p.S278S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	278					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)					TCAGCGCCTGGGAGAGCTGGC	0.527																																					p.S278S		.											.	TRIM9-227	0			c.C834A						.						120	107	111					14																	51492067		2203	4300	6503	SO:0001819	synonymous_variant	114088	exon2			CGCCTGGGAGAGC	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.834C>A	14.37:g.51492067G>T		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_015163	0	0	0	0	0	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	CCDS9703.1																																																																																			.		0.527	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		T	51492067	G	T	51492067	2	4	8	1	0	0	0	0	0	0	0	1	16597	1219	43	3		3	TRIM9	14	51492067	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	12812827	51492067	55857473	138	1517											
FOXN3	1112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	89817135	89817135	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgggtctatgcaccacaaCgaccctttcccaatactctg	6	15	3	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:89817135C>G	ENST00000345097.4	-	3	677	c.561G>C	c.(559-561)tcG>tcC	p.S187S	FOXN3_ENST00000555658.1_5'UTR|FOXN3_ENST00000261302.5_Silent_p.S187S|FOXN3_ENST00000555353.1_Silent_p.S187S|FOXN3_ENST00000557258.1_Silent_p.S187S|RP11-356K23.1_ENST00000555407.1_RNA|RP11-356K23.1_ENST00000556942.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	187					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						TGCACCACAACGACCCTTTCC	0.368																																					p.S187S		.											.	FOXN3-229	0			c.G561C						.						153	133	140					14																	89817135		2203	4300	6503	SO:0001819	synonymous_variant	1112	exon3			CCACAACGACCCT		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.561G>C	14.37:g.89817135C>G		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	85	32	NM_005197	0	0	1	1	0	Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821306	0.16678	.	.	ENSG00000053254	ENST00000553840;ENST00000556916	.	.	.	6.06	-12.1	0.00011	.	.	.	.	.	T	0.41789	0.1174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51694	-0.8673	4	.	.	.	.	6.3846	0.21554	0.1161:0.077:0.43:0.3769	.	.	.	.	P	37;48	.	.	R	-	2	0	FOXN3	88886888	0.129000	0.22400	0.274000	0.24659	0.987000	0.75469	-0.657000	0.05335	-2.405000	0.00575	-0.878000	0.02970	CGT	.		0.368	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		G	89817135	C	G	89817135	2	3	8	1	0	0	0	0	0	0	0	1	6045	523	19	2		2	FOXN3	14	89817135	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	38325068	89817135	17532405	139	1518											
CCDC88C	440193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	91739504	91739504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggctatgggagctgGggggtgcggggctttgcagg	23	7	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:91739504G>A	ENST00000389857.6	-	30	5638	c.5552C>T	c.(5551-5553)cCc>cTc	p.P1851L	CCDC88C_ENST00000331194.7_Missense_Mutation_p.P375L	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1851					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)				ATGGGAGCTGGGGGGTGCGGG	0.697																																					p.P1851L		.											.	CCDC88C-25	0			c.C5552T						.						6	8	7					14																	91739504		1871	4067	5938	SO:0001583	missense	440193	exon30			GAGCTGGGGGGTG		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.5552C>T	14.37:g.91739504G>A	ENSP00000374507:p.Pro1851Leu	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	44	7	NM_001080414	0	0	4	4	0	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	4.142	0.024624	0.08054	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.41065	2.67;1.01	4.39	3.42	0.39159	.	0.608791	0.13388	U	0.391614	T	0.30324	0.0761	L	0.38175	1.15	0.09310	N	1	B;B;B	0.24368	0.001;0.102;0.037	B;B;B	0.23852	0.001;0.049;0.049	T	0.10428	-1.0630	10	0.27082	T	0.32	-10.0551	7.5606	0.27849	0.0896:0.1684:0.7421:0.0	.	1851;375;301	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	L	1851;329;375	ENSP00000374507:P1851L;ENSP00000330332:P375L	ENSP00000330332:P375L	P	-	2	0	CCDC88C	90809257	0.003000	0.15002	0.158000	0.22627	0.100000	0.18952	1.447000	0.35101	1.980000	0.57719	0.313000	0.20887	CCC	.		0.697	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91739504	G	A	91739504	3	1	8	1	0	0	0	0	1	0	0	0	2872	1232	43	3	538	3	CCDC88C	14	91739504	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1922369	91739504	15610036	140	1519											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	9	NM_001127258	0	0	1	1	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	8	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	8402185	100141689	7207851	141	1520											
BEGAIN	57596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	101011366	101011366	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgtcctccagctcctGgttgatcctctgcagtgcca	9	15	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:101011366G>A	ENST00000355173.2	-	4	285	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	BEGAIN_ENST00000554747.1_5'Flank|BEGAIN_ENST00000556751.1_Nonsense_Mutation_p.Q8*|BEGAIN_ENST00000443071.2_Nonsense_Mutation_p.Q72*	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	72						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCAGCTCCTGGTTGATCCTC	0.647																																					p.Q72X	NSCLC(159;1889 2010 9965 27479 40101)	.											.	BEGAIN-68	0			c.C214T						.						222	152	176					14																	101011366		2203	4300	6503	SO:0001587	stop_gained	57596	exon4			GCTCCTGGTTGAT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.214C>T	14.37:g.101011366G>A	ENSP00000347301:p.Gln72*	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	58	12	NM_020836	0	0	2	2	0	Q9NPU3|Q9P282	Nonsense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167564	0.94768	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356;ENST00000557378;ENST00000554140	.	.	.	3.16	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.5808	0.56390	0.0:0.0:1.0:0.0	.	.	.	.	X	72;8;72;84;72;8;72;91	.	ENSP00000347301:Q72X	Q	-	1	0	BEGAIN	100081119	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	8.404000	0.90210	2.077000	0.62373	0.555000	0.69702	CAG	.		0.647	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		A	101011366	G	A	101011366	4	1	8	1	0	0	0	0	0	1	0	0	1398	1357	47	3	1583	3	BEGAIN	14	101011366	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	869677	101011366	6338174	142	1521											
C14orf73	91828	hgsc.bcm.edu	37	chr14	103568729	103568729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagcgcggaggaggaAgcccacccttctccccccga	14	15	1	1	rs10142200	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:103568729A>G	ENST00000380069.3	+	2	745	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	223					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGAGGAGGAAGCCCACCCTT	0.756													G|||	2646	0.528355	0.5666	0.5303	5008	,	,		12079	0.6042		0.3917	False		,,,				2504	0.5378				p.E223E		.											.	EXOC3L4-23	0			c.A669G						.	G		2098,2000		603,892,554	5	5	5		669	2.5	0.8	14	dbSNP_119	5	2949,5055		663,1623,1716	no	coding-synonymous	EXOC3L4	NM_001077594.1		1266,2515,2270	GG,GA,AA		36.8441,48.8043,41.7039		223/723	103568729	5047,7055	2049	4002	6051	SO:0001819	synonymous_variant	91828	exon2			GGAGGAAGCCCAC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.669A>G	14.37:g.103568729A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001077594	0	0	0	0	0	Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																			A|0.486;G|0.514		0.756	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		G	103568729	A	G	103568729	2	3	8	1	0	0	0	0	0	0	0	1	1784	69	3	4		4	C14orf73	14	103568729	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	2557363	103568729	3780811	143	1522											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644168	104644168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccctgactccatgagCgagagtggggctgcctcccc	12	17	0	3	rs201501169	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr14:104644168C>T	ENST00000423312.2	+	12	5043	c.5043C>T	c.(5041-5043)agC>agT	p.S1681S	KIF26A_ENST00000315264.7_Silent_p.S1542S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1681					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACTCCATGAGCGAGAGTGGGG	0.687													C|||	23	0.00459265	0.0174	0	5008	,	,		14039	0		0	False		,,,				2504	0				p.S1681S		.											.	KIF26A-24	0			c.C5043T						.	C		21,3645		0,21,1812	4	6	6		5043	-3.9	0.8	14		6	0,7736		0,0,3868	no	coding-synonymous	KIF26A	NM_015656.1		0,21,5680	TT,TC,CC		0.0,0.5728,0.1842		1681/1883	104644168	21,11381	1833	3868	5701	SO:0001819	synonymous_variant	26153	exon12			CATGAGCGAGAGT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5043C>T	14.37:g.104644168C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			C|0.998;T|0.002		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104644168	C	T	104644168	2	4	8	1	0	0	0	0	0	0	0	1	8321	767	27	1		1	KIF26A	14	104644168	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1075439	104644168	2705372	144	1523											
RYR3	6263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	33962729	33962729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaagccagagaaggagcaGccgacggaggaggaggagag	18	9	0	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:33962729G>T	ENST00000389232.4	+	38	5902	c.5832G>T	c.(5830-5832)caG>caT	p.Q1944H	RYR3_ENST00000415757.3_Missense_Mutation_p.Q1944H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1944	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)		AGAAGGAGCAGCCGACGGAGG	0.458																																					p.Q1944H		.											.	RYR3-520	0			c.G5832T						.						75	90	85					15																	33962729		1959	4138	6097	SO:0001583	missense	6263	exon38			GGAGCAGCCGACG		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.5832G>T	15.37:g.33962729G>T	ENSP00000373884:p.Gln1944His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	77	12	NM_001243996	0	0	0	0	0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442994	0.25987	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.48	0.407	0.16371	.	0.349316	0.26642	N	0.023249	D	0.88768	0.6526	N	0.08118	0	0.21627	N	0.999615	B;B	0.23377	0.084;0.0	B;B	0.30401	0.115;0.0	T	0.81426	-0.0938	10	0.72032	D	0.01	.	4.5835	0.12271	0.2365:0.0:0.5216:0.2419	.	1944;1944	Q15413-2;Q15413	.;RYR3_HUMAN	H	1944	ENSP00000373884:Q1944H;ENSP00000399610:Q1944H	ENSP00000354735:Q1944H	Q	+	3	2	RYR3	31750021	0.620000	0.27068	0.007000	0.13788	0.552000	0.35366	0.119000	0.15626	-0.059000	0.13154	0.650000	0.86243	CAG	.		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33962729	G	T	33962729	3	4	8	1	0	0	0	0	1	0	0	0	13815	962	34	3	5982	3	RYR3	15	33962729	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		33962729	68568663	145	1524											
PLA2G4E	123745	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	42297141	42297141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcctactcacctctcCtccagcaggaactccacctc	6	20	2	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:42297141C>A	ENST00000399518.3	-	5	1047	c.561G>T	c.(559-561)gaG>gaT	p.E187D	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E158D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	169					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)		CTCACCTCTCCTCCAGCAGGA	0.617																																					p.E187D		.											.	.	0			c.G561T						.						26	30	29					15																	42297141		2013	4173	6186	SO:0001583	missense	123745	exon5			CCTCTCCTCCAGC		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.561G>T	15.37:g.42297141C>A	ENSP00000382434:p.Glu187Asp	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	149	12	NM_001206670	0	0	0	0	0	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665300	0.47677	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.39997	1.05;4.69	5.41	3.39	0.38822	.	0.202917	0.29376	U	0.012330	T	0.38295	0.1035	M	0.70595	2.14	0.26118	N	0.980592	B	0.20368	0.044	B	0.19666	0.026	T	0.28839	-1.0031	10	0.35671	T	0.21	-10.5866	6.61	0.22747	0.0:0.7376:0.0:0.2624	.	158	C9JK77	.	D	187;158	ENSP00000382434:E187D;ENSP00000413897:E158D	ENSP00000382434:E187D	E	-	3	2	PLA2G4E	40084433	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.573000	0.23699	1.112000	0.41740	0.655000	0.94253	GAG	.		0.617	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		A	42297141	C	A	42297141	3	1	8	1	0	0	0	0	1	0	0	0	12044	680	24	3	2109	3	PLA2G4E	15	42297141	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8334412	42297141	60234251	146	1525											
SLC30A4	7782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	45814279	45814279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgtcacaggagtccaCcttcaaactcagctgactgt	9	12	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:45814279C>G	ENST00000261867.4	-	2	588	c.274G>C	c.(274-276)Gtg>Ctg	p.V92L	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	92	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CAGGAGTCCACCTTCAAACTC	0.512																																					p.V92L		.											.	SLC30A4-90	0			c.G274C						.						181	165	171					15																	45814279		2198	4298	6496	SO:0001583	missense	7782	exon2			AGTCCACCTTCAA		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.274G>C	15.37:g.45814279C>G	ENSP00000261867:p.Val92Leu	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	175	106	NM_013309	0	0	0	3	3	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403842	0.42613	.	.	ENSG00000104154	ENST00000261867	T	0.63255	-0.03	5.23	3.29	0.37713	.	0.926203	0.09285	N	0.823123	T	0.43986	0.1272	N	0.19112	0.55	0.20764	N	0.999857	B	0.09022	0.002	B	0.06405	0.002	T	0.29058	-1.0024	10	0.23891	T	0.37	-2.7195	6.3829	0.21544	0.0:0.7107:0.1871:0.1022	.	92	O14863	ZNT4_HUMAN	L	92	ENSP00000261867:V92L	ENSP00000261867:V92L	V	-	1	0	SLC30A4	43601571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.117000	0.41939	0.549000	0.28973	0.655000	0.94253	GTG	.		0.512	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			G	45814279	C	G	45814279	3	3	8	1	0	0	0	0	1	0	0	0	14602	507	18	3	1043	3	SLC30A4	15	45814279	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3517138	45814279	56717113	147	1526											
DMXL2	23312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	51755647	51755647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacctcttgtttaacaaGgaaatgccaaagtcgtttga	9	7	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:51755647G>A	ENST00000251076.5	-	33	8139	c.7852C>T	c.(7852-7854)Ctt>Ttt	p.L2618F	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2619F|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1982F|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2618						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)		TGTTTAACAAGGAAATGCCAA	0.299																																					p.L2619F		.											.	DMXL2-99	0			c.C7855T						.						65	72	70					15																	51755647		2196	4288	6484	SO:0001583	missense	23312	exon33			TAACAAGGAAATG	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.7852C>T	15.37:g.51755647G>A	ENSP00000251076:p.Leu2618Phe	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	153	101	NM_001174116	0	0	2	5	3	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480491	0.84747	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.61040	0.23;0.23;0.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.986;0.995;0.997	T	0.82682	-0.0336	10	0.87932	D	0	.	19.0674	0.93117	0.0:0.0:1.0:0.0	.	2619;1982;2618;2619	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	F	2618;2619;1982;163	ENSP00000251076:L2618F;ENSP00000441858:L2619F;ENSP00000400855:L1982F	ENSP00000251076:L2618F	L	-	1	0	DMXL2	49542939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.274000	0.78538	2.732000	0.93576	0.557000	0.71058	CTT	.		0.299	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51755647	G	A	51755647	3	1	8	1	0	0	0	0	1	0	0	0	4609	1000	35	3	1302	3	DMXL2	15	51755647	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5941368	51755647	50775745	148	1527											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	8	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	11658436	63414083	39117309	149	1528											
CHD2	1106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	93522377	93522377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacaggtaaatatttacCgcttagttacaaaggggact	8	8	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr15:93522377C>T	ENST00000394196.4	+	22	3808	c.2740C>T	c.(2740-2742)Cgc>Tgc	p.R914C	CHD2_ENST00000557381.1_Missense_Mutation_p.R914C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			AAATATTTACCGCTTAGTTAC	0.463																																					p.R914C		.											.	CHD2-229	0			c.C2740T						.						159	162	161					15																	93522377		2197	4298	6495	SO:0001583	missense	1106	exon22			ATTTACCGCTTAG	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.2740C>T	15.37:g.93522377C>T	ENSP00000377747:p.Arg914Cys	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	57	6	NM_001271	0	0	0	0	0	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	32	5.144756	0.94603	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.96334	-3.98;-3.98	5.82	5.82	0.92795	Helicase, C-terminal (1);	0.000000	0.34959	U	0.003553	D	0.99146	0.9705	H	0.99130	4.44	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	0.98742	1.0717	10	0.87932	D	0	-16.0716	20.1178	0.97943	0.0:1.0:0.0:0.0	.	914;914;914	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	C	914	ENSP00000377747:R914C;ENSP00000451366:R914C	ENSP00000377747:R914C	R	+	1	0	CHD2	91323381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.759000	0.94783	0.557000	0.71058	CGC	.		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		T	93522377	C	T	93522377	3	4	8	1	0	0	0	0	1	0	0	0	3332	652	23	1	2826	1	CHD2	15	93522377	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	30108294	93522377	9009015	150	1529											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	8	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		1823444	88531309	151	1530											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	8	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	236230	2059674	88295079	152	1531											
PRSS27	83886	broad.mit.edu	37	chr16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaccccagctgatcAcccccgcctgcagccacgac	7	22	2	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																					p.V246G		.											.	PRSS27-91	0			c.T737G						.						27	24	25					16																	2762757		2178	4284	6462	SO:0001583	missense	83886	exon6			CTGATCACCCCCG	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly	Somatic	45	2		WXS	Illumina GAIIx	Phase_I	106	21	NM_031948	0	0	0	0	0		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG	.		0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		C	2762757	A	C	2762757	3	2	8	1	0	0	0	0	1	0	0	0	12663	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	703083	2762757	87591996	153	1532											
DNAH3	55567	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	20974923	20974923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgcagtttgggtaagGcagatgcacggacaatctct	13	9	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:20974923G>T	ENST00000261383.3	-	53	10282	c.10283C>A	c.(10282-10284)gCc>gAc	p.A3428D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3428					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTGGGTAAGGCAGATGCACG	0.552																																					p.A3428D		.											.	DNAH3-167	0			c.C10283A						.						113	92	99					16																	20974923		2201	4300	6501	SO:0001583	missense	55567	exon53			GGTAAGGCAGATG	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.10283C>A	16.37:g.20974923G>T	ENSP00000261383:p.Ala3428Asp	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	101	17	NM_017539	0	0	0	1	1	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.043731	0.00039	.	.	ENSG00000158486	ENST00000261383	T	0.08458	3.09	5.6	2.95	0.34219	Dynein heavy chain (1);	1.139360	0.06404	N	0.719433	T	0.02727	0.0082	N	0.02403	-0.565	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48422	-0.9037	10	0.06494	T	0.89	.	2.9159	0.05752	0.0873:0.1824:0.4282:0.3021	.	3428	Q8TD57	DYH3_HUMAN	D	3428	ENSP00000261383:A3428D	ENSP00000261383:A3428D	A	-	2	0	DNAH3	20882424	0.000000	0.05858	0.006000	0.13384	0.058000	0.15608	0.214000	0.17541	2.632000	0.89209	0.563000	0.77884	GCC	.		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20974923	G	T	20974923	3	4	8	1	0	0	0	0	1	0	0	0	4617	1203	42	3	2106	3	DNAH3	16	20974923	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	18212166	20974923	69379830	154	1533											
CHD9	80205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	53326859	53326859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataaaaacagacaaattcAgcagatacaaccgactttct	4	9	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:53326859A>G	ENST00000398510.3	+	28	5492	c.5405A>G	c.(5404-5406)cAg>cGg	p.Q1802R	CHD9_ENST00000447540.1_Missense_Mutation_p.Q1802R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q1802R|CHD9_ENST00000566029.1_Missense_Mutation_p.Q1802R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1802					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)				AGACAAATTCAGCAGATACAA	0.428																																					p.Q1802R		.											.	CHD9-272	0			c.A5405G						.						106	98	101					16																	53326859		1898	4125	6023	SO:0001583	missense	80205	exon29			AAATTCAGCAGAT	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.5405A>G	16.37:g.53326859A>G	ENSP00000381522:p.Gln1802Arg	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	152	20	NM_025134	0	0	2	2	0	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	5.641	0.302947	0.10678	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T;T	0.80304	-1.36;-1.36	5.35	4.21	0.49690	.	0.000000	0.53938	D	0.000057	T	0.64681	0.2620	N	0.15975	0.35	0.33009	D	0.527212	P;B;P;P	0.46512	0.808;0.02;0.808;0.879	B;B;B;B	0.42827	0.225;0.032;0.225;0.399	T	0.68187	-0.5475	10	0.12430	T	0.62	-8.2591	11.6537	0.51304	0.8676:0.0:0.0:0.1324	.	170;1802;1802;1802	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	1802;1802;170	ENSP00000396345:Q1802R;ENSP00000381522:Q1802R	ENSP00000381522:Q1802R	Q	+	2	0	CHD9	51884360	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	4.363000	0.59473	2.023000	0.59567	0.482000	0.46254	CAG	.		0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53326859	A	G	53326859	3	3	8	1	0	0	0	0	1	0	0	0	3339	188	7	4	5515	4	CHD9	16	53326859	Missense_Mutation	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	32351936	53326859	37027894	155	1534											
TMCO7	79613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	69007975	69007975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcctgagaaaatcttgccgGacttgttggctcaatatgac	9	9	2	2			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:69007975G>T	ENST00000261778.1	+	15	2758	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	916						integral component of membrane (GO:0016021)											AATCTTGCCGGACTTGTTGGC	0.458																																					p.D916Y		.											.	.	0			c.G2746T						.						84	83	84					16																	69007975		1945	4150	6095	SO:0001583	missense	79613	exon15			TTGCCGGACTTGT		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2746G>T	16.37:g.69007975G>T	ENSP00000261778:p.Asp916Tyr	Somatic	181	1		WXS	Illumina GAIIx	Phase_I	181	116	NM_024562	0	0	1	6	5	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	1.134	-0.651512	0.03506	.	.	ENSG00000103047	ENST00000261778	T	0.65549	-0.16	5.59	2.02	0.26589	Armadillo-like helical (1);Armadillo-type fold (1);	0.589580	0.19580	N	0.110887	T	0.34424	0.0897	N	0.14661	0.345	0.09310	N	1	P	0.43938	0.822	B	0.41440	0.357	T	0.27191	-1.0081	10	0.07175	T	0.84	-0.8203	2.9378	0.05820	0.0938:0.1387:0.4971:0.2704	.	916	Q9C0B7	TMCO7_HUMAN	Y	916	ENSP00000261778:D916Y	ENSP00000261778:D916Y	D	+	1	0	TMCO7	67565476	0.640000	0.27243	0.122000	0.21767	0.831000	0.47069	0.757000	0.26433	0.806000	0.34183	0.650000	0.86243	GAC	.		0.458	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		T	69007975	G	T	69007975	3	4	8	1	0	0	0	0	1	0	0	0	16048	1174	41	3	2804	3	TMCO7	16	69007975	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	15681116	69007975	21346778	156	1535											
C16orf61	56942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	81015457	81015457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgatcaacatcattacaaTaaccaaaaaatttcagaatg	3	10	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr16:81015457T>C	ENST00000219400.3	-	3	522	c.107A>G	c.(106-108)tAt>tGt	p.Y36C	CMC2_ENST00000565108.1_Intron|CMC2_ENST00000565925.1_Missense_Mutation_p.Y36C|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000565914.1_Missense_Mutation_p.Y36C|CMC2_ENST00000564249.1_Missense_Mutation_p.Y36C|CMC2_ENST00000562713.1_Missense_Mutation_p.Y36C|CMC2_ENST00000570195.1_Missense_Mutation_p.Y55C	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2	36						mitochondrion (GO:0005739)											ATCATTACAATAACCAAAAAA	0.323																																					p.Y36C		.											.	.	0			c.A107G						.						80	74	76					16																	81015457		2203	4298	6501	SO:0001583	missense	56942	exon3			TTACAATAACCAA	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 61", "COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.107A>G	16.37:g.81015457T>C	ENSP00000219400:p.Tyr36Cys	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	86	14	NM_020188	0	0	87	113	26	D3DUK6	Missense_Mutation	SNP	ENST00000219400.3	37	CCDS10930.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724895	0.30593	.	.	ENSG00000103121	ENST00000219400	T	0.42131	0.98	5.87	3.6	0.41247	.	0.402706	0.29653	N	0.011551	T	0.38878	0.1057	.	.	.	0.22479	N	0.999064	P	0.36577	0.558	P	0.44623	0.455	T	0.21484	-1.0244	9	0.39692	T	0.17	.	6.4263	0.21772	0.0:0.0804:0.1575:0.762	.	36	Q9NRP2	CP061_HUMAN	C	36	ENSP00000219400:Y36C	ENSP00000219400:Y36C	Y	-	2	0	C16orf61	79572958	1.000000	0.71417	0.999000	0.59377	0.007000	0.05969	2.118000	0.41949	0.544000	0.28883	-0.316000	0.08728	TAT	.		0.323	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269047.1	NM_020188		C	81015457	T	C	81015457	3	2	8	1	0	0	0	0	1	0	0	0	1829	1406	49	4	140	4	C16orf61	16	81015457	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	12007482	81015457	9339296	157	1536											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000466740.2_RNA|AC108004.3_ENST00000599026.1_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	35	7	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	8	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10		260182	80935028	158	1537											
SGSM2	9905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	2280076	2280076	+	Missense_Mutation	SNP	C	C	A													atgtgcagggcatgtgcgatCtgctggcgcctctcctggtc							TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:2280076C>A	ENST00000426855.2	+	19	2699	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.L842M|SGSM2_ENST00000268989.3_Missense_Mutation_p.L887M|RP1-59D14.5_ENST00000573007.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	842	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CATGTGCGATCTGCTGGCGCC	0.627																																					p.L887M		.											.	SGSM2-68	0			c.C2659A						.						166	151	156					17																	2280076		2203	4300	6503	SO:0001583	missense	9905	exon20			TGCGATCTGCTGG	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2524C>A	17.37:g.2280076C>A	ENSP00000415107:p.Leu842Met	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	101	10	NM_014853	0	0	16	16	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.548907	0.86127	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.09255	3.0;3.0	5.48	5.48	0.80851	Rab-GAP/TBC domain (4);	0.063054	0.64402	D	0.000003	T	0.45337	0.1337	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56269	-0.8007	10	0.87932	D	0	-11.9935	18.7018	0.91623	0.0:1.0:0.0:0.0	.	842;842;842;887	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	M	887;842	ENSP00000268989:L887M;ENSP00000415107:L842M	ENSP00000268989:L887M	L	+	1	2	SGSM2	2226826	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.811000	0.62606	2.748000	0.94277	0.651000	0.88453	CTG	.		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		A	2280076	C	A	2280076	3	1	8	1	0	0	0	0	1	0	0	0	14268	912	32	3	2737	3	SGSM2	17	2280076	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2019894	2280076	78915134	159	1538	15	2									
SGSM2	9905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	2280078	2280078	+	Silent	SNP	G	G	T													gtgcagggcatgtgcgatctGctggcgcctctcctggtcac							TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:2280078G>T	ENST00000426855.2	+	19	2701	c.2526G>T	c.(2524-2526)ctG>ctT	p.L842L	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Silent_p.L842L|SGSM2_ENST00000268989.3_Silent_p.L887L|RP1-59D14.5_ENST00000573007.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	842	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGTGCGATCTGCTGGCGCCTC	0.627																																					p.L887L		.											.	SGSM2-68	0			c.G2661T						.						163	148	153					17																	2280078		2203	4300	6503	SO:0001819	synonymous_variant	9905	exon20			CGATCTGCTGGCG	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2526G>T	17.37:g.2280078G>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	101	10	NM_014853	0	0	17	17	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																			.		0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		T	2280078	G	T	2280078	2	4	8	1	0	0	0	0	0	0	0	1	14268	1306	46	3		3	SGSM2	17	2280078	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	2	2280078	78915132	160	1539	15	2									
SPNS2	124976	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	4436414	4436414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcccgccctgtgggGccaaggacaggtggggcccc	16	15	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:4436414G>T	ENST00000329078.3	+	7	1288	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	360					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCCCTGTGGGGCCAAGGACAG	0.697																																					p.A360S		.											.	SPNS2-68	0			c.G1078T						.						13	16	15					17																	4436414		1565	3579	5144	SO:0001583	missense	124976	exon7			TGTGGGGCCAAGG	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1078G>T	17.37:g.4436414G>T	ENSP00000333292:p.Ala360Ser	Somatic	60	1		WXS	Illumina GAIIx	Phase_I	75	8	NM_001124758	0	0	0	0	0	B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	g	0.079	-1.187583	0.01620	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.76	2.45	0.29901	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169745	0.50627	D	0.000106	T	0.18718	0.0449	N	0.00873	-1.125	0.29529	N	0.852903	B	0.09022	0.002	B	0.10450	0.005	T	0.12528	-1.0544	10	0.13470	T	0.59	.	2.511	0.04657	0.2825:0.2978:0.4197:0.0	.	360	Q8IVW8	SPNS2_HUMAN	S	360	ENSP00000333292:A360S	ENSP00000333292:A360S	A	+	1	0	SPNS2	4383163	1.000000	0.71417	0.997000	0.53966	0.091000	0.18340	4.914000	0.63348	0.962000	0.38057	-0.492000	0.04666	GCC	.		0.697	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			T	4436414	G	T	4436414	3	4	8	1	0	0	0	0	1	0	0	0	15122	1203	42	3	1104	3	SPNS2	17	4436414	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	2156336	4436414	76758796	161	1540											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001014985	0	0	0	1	1	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	8	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	256928	4693342	76501868	162	1541											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	11	14	2	2	rs55863639		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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.T125T	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	c.G375T	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	.						66	61	63					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	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;	ACTGACCGTGCAA	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.375+1G>T	17.37:g.7579312C>A		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	193	118	NM_000546	0	0	0	10	10	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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																			.		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	A	7579312	C	A	7579312	5	1	8	1	0	0	0	0	0	0	1	0	16429	666	23	2	927	2	TP53	17	7579312	Splice_Site	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2885970	7579312	73615898	163	1542											
WDR16	146845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9542007	9542007	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgaggagttccagatcatCaccagcggaacagacagaaa	10	11	2	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:9542007C>A	ENST00000352665.5	+	12	1623	c.1554C>A	c.(1552-1554)atC>atA	p.I518I	WDR16_ENST00000299764.5_Silent_p.I528I|WDR16_ENST00000576714.1_3'UTR|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Silent_p.I450I	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCCAGATCATCACCAGCGGAA	0.507																																					p.I518I		.											.	WDR16-71	0			c.C1554A						.						98	87	91					17																	9542007		2203	4300	6503	SO:0001819	synonymous_variant	146845	exon12			GATCATCACCAGC	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1554C>A	17.37:g.9542007C>A		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	111	69	NM_145054	0	0	0	0	0		Silent	SNP	ENST00000352665.5	37	CCDS11149.2																																																																																			.		0.507	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		A	9542007	C	A	9542007	2	1	8	1	0	0	0	0	0	0	0	1	17325	816	29	3		3	WDR16	17	9542007	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	1962695	9542007	71653203	164	1543											
SARM1	7448	hgsc.bcm.edu	37	chr17	26699367	26699368	+	5'Flank	INS	-	-	C													tggaggaggcctggctgctgINScggccgtgggccgcgaggta					rs11437594		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:26699367_26699368insC	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_Frame_Shift_Ins_p.A72fs|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CCTGGCTGCTGCGGCCGTGGGC	0.743													CC|C|CC|deletion	5008	1	1	1	5008	,	,		10362	1		1	False		,,,				2504	1				p.A105fs		.											.	.	0			c.313_314insC						.			2410,14		1203,4,5						0.8	1		dbSNP_120	3	4457,19		2225,7,6	no	frameshift	SARM1	NM_015077.2		3428,11,11	A1A1,A1R,RR		0.4245,0.5776,0.4783				6867,33				SO:0001631	upstream_gene_variant	23098	exon2			GCTGCTGCGGCCG	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699368_26699368dupC	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_015077	0	0	0	0	0	B2R7G0|P01141|Q9BSH7	Frame_Shift_Ins	INS	ENST00000226218.4	37	CCDS11229.1																																																																																			-|0.009;C|0.991		0.743	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699368	-	C	26699367	6	5	8	0	1	1	1	0	0	0	0	0	13887	1319	46	0		0	SARM1	17	26699367	5'Flank	INS	-	TCGA-OR-A5J8-01A-11D-A29I-10	17157360	26699367	54495843	165	1544											
NF1	4763	bcgsc.ca	37	chr17	29560115	29560115	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaatttgacacacttgcaGaaacagtattggctgatcgg	10	8	0	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:29560115G>T	ENST00000358273.4	+	27	3975	c.3592G>T	c.(3592-3594)Gaa>Taa	p.E1198*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E1198*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1198					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.G1190fs*1(1)|p.E1198*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACACTTGCAGAAACAGTATT	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.E1198X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	soft_tissue(8)|lung(2)|autonomic_ganglia(2)|central_nervous_system(2)	c.G3592T						.						128	111	117					17																	29560115		2203	4300	6503	SO:0001587	stop_gained	4763	exon27	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CTTGCAGAAACAG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3592G>T	17.37:g.29560115G>T	ENSP00000351015:p.Glu1198*	Somatic	241	5		WXS	Illumina GAIIx	Phase_I	250	151	NM_000267	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	47	13.429988	0.99741	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8989	0.96978	0.0:0.0:1.0:0.0	.	.	.	.	X	1198;1198;864	.	ENSP00000348498:E1198X	E	+	1	0	NF1	26584241	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.434000	0.97515	2.706000	0.92434	0.555000	0.69702	GAA	.		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29560115	G	T	29560115	4	4	8	1	0	0	0	0	0	1	0	0	10395	943	33	3	3759	3	NF1	17	29560115	Nonsense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	2860748	29560115	51635095	166	1545											
KRT17	3872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	39780559	39780559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaagctgctgccatagCcaccaccagagccaaagctg	8	17	0	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:39780559C>A	ENST00000311208.8	-	1	270	c.203G>T	c.(202-204)gGc>gTc	p.G68V	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	68	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCTGCCATAGCCACCACCAGA	0.642																																					p.G68V	Pancreas(92;1242 2086 39193 50508)	.											.	KRT17-92	0			c.G203T						.						43	46	45					17																	39780559		2202	4300	6502	SO:0001583	missense	3872	exon1			CCATAGCCACCAC	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.203G>T	17.37:g.39780559C>A	ENSP00000308452:p.Gly68Val	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	343	39	NM_000422	0	0	0	0	0	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958102	0.34565	.	.	ENSG00000128422	ENST00000311208	D	0.83755	-1.76	5.1	4.12	0.48240	.	0.710400	0.12198	N	0.490512	T	0.81361	0.4806	L	0.50333	1.59	0.80722	D	1	P	0.39883	0.693	B	0.40506	0.331	T	0.78272	-0.2268	10	0.36615	T	0.2	.	15.759	0.78063	0.0:0.8631:0.1369:0.0	.	68	Q04695	K1C17_HUMAN	V	68	ENSP00000308452:G68V	ENSP00000308452:G68V	G	-	2	0	KRT17	37034085	0.013000	0.17824	0.524000	0.27887	0.161000	0.22273	2.663000	0.46774	1.501000	0.48654	0.563000	0.77884	GGC	.		0.642	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		A	39780559	C	A	39780559	3	1	8	1	0	0	0	0	1	0	0	0	8481	739	26	3	1127	3	KRT17	17	39780559	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	10220444	39780559	41414651	167	1546											
HSD17B1	3292	hgsc.bcm.edu	37	chr17	40706906	40706906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggacgaggccgggcgcGgtgcggtgggggaccctgag	22	10	0	2	rs605059	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:40706906G>A	ENST00000585807.1	+	6	4657	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	HSD17B1_ENST00000225929.5_Missense_Mutation_p.G314S|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	313			G -> S (in dbSNP:rs605059). {ECO:0000269|PubMed:1327779, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2197970, ECO:0000269|PubMed:2330005, ECO:0000269|PubMed:2779584, ECO:0000269|PubMed:2846351, ECO:0000269|PubMed:8389226, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCCGGGCGCGGTGCGGTGGG	0.736													A|||	2617	0.522564	0.4849	0.4942	5008	,	,		11834	0.4534		0.5249	False		,,,				2504	0.6626				p.G313S		.											.	HSD17B1-90	0			c.G937A	GRCh37	CM057951	HSD17B1	M	rs605059	.	A	SER/GLY	2209,1645		683,843,401	3	5	4		937	-1.2	0	17	dbSNP_83	4	4593,3023		1489,1615,704	no	missense	HSD17B1	NM_000413.2	56	2172,2458,1105	AA,AG,GG		39.6928,42.6829,40.6975	benign	313/329	40706906	6802,4668	1927	3808	5735	SO:0001583	missense	3292	exon6			GGGCGCGGTGCGG		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.937G>A	17.37:g.40706906G>A	ENSP00000466799:p.Gly313Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_000413	0	0	0	4	4	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	1065	0.4876373626373626	249	0.5060975609756098	161	0.4447513812154696	257	0.4493006993006993	398	0.525065963060686	A	1.679	-0.506941	0.04231	0.573171	0.603072	ENSG00000108786	ENST00000225929	.	.	.	0.605	-1.21	0.09524	.	15.510600	0.00792	N	0.001347	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49916	-0.8888	7	0.15952	T	0.53	.	.	.	.	rs605059;rs58087383	344;313	B3RFR9;P14061	.;DHB1_HUMAN	S	313	.	ENSP00000225929:G313S	G	+	1	0	HSD17B1	37960432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.026000	0.03596	-2.560000	0.00474	-1.912000	0.00520	GGT	G|0.505;A|0.495		0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		A	40706906	G	A	40706906	3	1	8	1	0	0	0	0	1	0	0	0	7405	1116	39	1	959	1	HSD17B1	17	40706906	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	926347	40706906	40488304	168	1547											
ABCC3	8714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	48746781	48746781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttcaggaaaacgtgcttttCggcaaagccctgaaccccaa	8	13	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:48746781C>A	ENST00000285238.8	+	17	2213	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	711	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ACGTGCTTTTCGGCAAAGCCC	0.582																																					p.F711L		.											.	ABCC3-93	0			c.C2133A						.						98	92	94					17																	48746781		2203	4300	6503	SO:0001583	missense	8714	exon17			GCTTTTCGGCAAA	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.2133C>A	17.37:g.48746781C>A	ENSP00000285238:p.Phe711Leu	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	141	12	NM_003786	0	0	0	0	0	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426048	0.43020	.	.	ENSG00000108846	ENST00000285238	D	0.89746	-2.56	4.36	-5.0	0.03001	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.061542	0.64402	D	0.000003	D	0.86314	0.5903	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84060	0.0374	10	0.87932	D	0	-15.5217	12.9237	0.58247	0.0:0.4065:0.0:0.5935	.	711	O15438	MRP3_HUMAN	L	711	ENSP00000285238:F711L	ENSP00000285238:F711L	F	+	3	2	ABCC3	46101780	0.828000	0.29307	0.085000	0.20634	0.284000	0.27059	-0.118000	0.10692	-0.913000	0.03832	-1.800000	0.00619	TTC	.		0.582	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48746781	C	A	48746781	3	1	8	1	0	0	0	0	1	0	0	0	54	883	31	2	2283	2	ABCC3	17	48746781	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	8039875	48746781	32448429	169	1548											
APPBP2	10513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	58525008	58525008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacttcttcagtggactgGgggctggtgctgacatcttc	12	11	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:58525008G>A	ENST00000083182.3	-	13	1979	c.1692C>T	c.(1690-1692)ccC>ccT	p.P564P		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	564					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAGTGGACTGGGGGCTGGTGC	0.488																																					p.P564P		.											.	APPBP2-226	0			c.C1692T						.						165	167	166					17																	58525008		2203	4300	6503	SO:0001819	synonymous_variant	10513	exon13			GGACTGGGGGCTG	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1692C>T	17.37:g.58525008G>A		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	150	18	NM_006380	0	0	23	24	1	A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	CCDS32699.1																																																																																			.		0.488	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		A	58525008	G	A	58525008	2	1	8	1	0	0	0	0	0	0	0	1	816	1219	43	3		3	APPBP2	17	58525008	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	9778227	58525008	22670202	170	1549											
GRIN2C	2905	broad.mit.edu;bcgsc.ca	37	chr17	72842224	72842224	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccgtcccccaggaactgcaaGagcgccaggtctatggcccg	12	16	1	1	rs41282061	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:72842224G>C	ENST00000293190.5	-	11	2477	c.2331C>G	c.(2329-2331)ctC>ctG	p.L777L	GRIN2C_ENST00000347612.4_Silent_p.L777L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	777					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAACTGCAAGAGCGCCAGGT	0.602													G|||	3	0.000599042	0	0.0043	5008	,	,		19490	0		0	False		,,,				2504	0				p.L777L		.											.	GRIN2C-228	0			c.C2331G						.	G		4,4402	8.1+/-20.4	0,4,2199	148	118	128		2331	1.2	1	17	dbSNP_127	128	44,8556	29.6+/-80.5	1,42,4257	no	coding-synonymous	GRIN2C	NM_000835.3		1,46,6456	CC,CG,GG		0.5116,0.0908,0.3691		777/1234	72842224	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	2905	exon11			CTGCAAGAGCGCC		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2331C>G	17.37:g.72842224G>C		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	153	6	NM_000835	0	0	1	1	0	B2RTT1	Silent	SNP	ENST00000293190.5	37	CCDS32724.1																																																																																			G|0.997;C|0.003		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			C	72842224	G	C	72842224	2	2	8	1	0	0	0	0	0	0	0	1	6808	929	33	3		3	GRIN2C	17	72842224	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	14317216	72842224	8352986	171	1550											
FADS6	283985	ucsc.edu	37	chr17	72889676	72889676	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgggctccgtaggttccatGggctccgtgggttccatgga	15	10	0	0	rs4319809|rs1625113	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:72889676G>C	ENST00000310226.6	-	1	32	c.18C>G	c.(16-18)ccC>ccG	p.P6P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	12	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TAGGTTCCATGGGCTCCGTGG	0.726																																					p.P6P		.											.	FADS6-22	0			c.C18G						.						17	23	21					17																	72889676		2064	4192	6256	SO:0001819	synonymous_variant	283985	exon1			TTCCATGGGCTCC	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.18C>G	17.37:g.72889676G>C		Somatic	54	2		WXS	Illumina GAIIx	Phase_I	204	115	NM_178128	0	0	0	0	0	Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	CCDS54163.1																																																																																			G|0.586;C|0.414		0.726	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			C	72889676	G	C	72889676	2	2	8	1	0	0	0	0	0	0	0	1	5387	1335	47	3		3	FADS6	17	72889676	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	47452	72889676	8305534	172	1551											
NT5C	30833	hgsc.bcm.edu	37	chr17	73127683	73127683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaggaagccgcggcgTtgctccagcggcacgtgcgg	18	14	0	0	rs4788867	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:73127683T>C	ENST00000245552.2	-	1	207	c.120A>G	c.(118-120)caA>caG	p.Q40Q	NT5C_ENST00000582170.1_Silent_p.Q40Q|NT5C_ENST00000582160.1_5'Flank|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	40					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	AGCCGCGGCGTTGCTCCAGCG	0.766													C|||	2491	0.497404	0.4372	0.5115	5008	,	,		10373	0.2817		0.66	False		,,,				2504	0.6237				p.Q40Q		.											.	NT5C-90	0			c.A120G						.						1	1	1					17																	73127683		1084	2247	3331	SO:0001819	synonymous_variant	30833	exon1			GCGGCGTTGCTCC	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.120A>G	17.37:g.73127683T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001252377	0	0	6	8	2	Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	37	CCDS11715.1																																																																																			T|0.502;C|0.498		0.766	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			C	73127683	T	C	73127683	2	2	8	1	0	0	0	0	0	0	0	1	10723	1722	60	4		4	NT5C	17	73127683	Silent	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	238007	73127683	8067527	173	1552											
EVPL	2125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	74003739	74003739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagtgatggggtccagCatgttcttggccacggccgt	14	12	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:74003739C>A	ENST00000301607.3	-	22	5800	c.5547G>T	c.(5545-5547)atG>atT	p.M1849I	EVPL_ENST00000586740.1_Missense_Mutation_p.M1871I|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1849	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						TGGGGTCCAGCATGTTCTTGG	0.607																																					p.M1849I		.											.	EVPL-93	0			c.G5547T						.						112	116	114					17																	74003739		2203	4300	6503	SO:0001583	missense	2125	exon22			GTCCAGCATGTTC	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.5547G>T	17.37:g.74003739C>A	ENSP00000301607:p.Met1849Ile	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	81	22	NM_001988	0	0	0	0	0	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854161	0.32791	.	.	ENSG00000167880	ENST00000301607	T	0.71103	-0.54	5.48	4.45	0.53987	.	0.122174	0.56097	D	0.000027	T	0.44456	0.1294	N	0.03608	-0.345	0.32722	N	0.510136	B;B	0.13145	0.007;0.005	B;B	0.18871	0.023;0.023	T	0.50127	-0.8864	10	0.26408	T	0.33	-52.7297	9.2841	0.37746	0.0:0.778:0.1465:0.0755	.	1871;1849	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1849	ENSP00000301607:M1849I	ENSP00000301607:M1849I	M	-	3	0	EVPL	71515334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.603000	0.46266	2.564000	0.86499	0.561000	0.74099	ATG	.		0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74003739	C	A	74003739	3	1	8	1	0	0	0	0	1	0	0	0	5308	710	25	3	558	3	EVPL	17	74003739	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	876056	74003739	7191471	174	1553											
FOXJ1	2302	hgsc.bcm.edu	37	chr17	74133974	74133974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcctcggtattcacCgtcagcggcccggcccgggg	16	15	2	0	rs894542	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091				p.T242T		.											.	FOXJ1-227	0			c.G726A						.	C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302	exon3			ATTCACCGTCAGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	18	5	NM_001454	0	0	0	0	0	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																			C|0.925;T|0.075		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	8	1	0	0	0	0	0	0	0	1	6035	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	130235	74133974	7061236	175	1554											
RBBP8	5932	broad.mit.edu	37	chr18	20602106	20602106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattagtattatgcagatatGccagcagaagaaagagaaaa	9	4	0	4			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr18:20602106G>T	ENST00000399722.2	+	18	2820	c.2469G>T	c.(2467-2469)atG>atT	p.M823I	RBBP8_ENST00000327155.5_Missense_Mutation_p.M823I|RBBP8_ENST00000581687.1_Start_Codon_SNP_p.M1I|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000399725.2_Missense_Mutation_p.C791F|RBBP8_ENST00000360790.5_Missense_Mutation_p.M828I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	823					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATGCAGATATGCCAGCAGAAG	0.343								Homologous recombination																													p.M823I		.											.	RBBP8-659	0			c.G2469T						.						115	125	121					18																	20602106		2203	4300	6503	SO:0001583	missense	5932	exon18			AGATATGCCAGCA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2469G>T	18.37:g.20602106G>T	ENSP00000382628:p.Met823Ile	Somatic	56	2		WXS	Illumina GAIIx	Phase_I	68	3	NM_002894	0	0	1	1	0	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	CCDS11875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.751811|1.751811	0.31046|0.31046	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000399725;ENST00000399721|ENST00000327155;ENST00000399722;ENST00000360790	T|T;T;T	0.27890|0.27256	1.64|1.68;1.68;1.68	5.93|5.93	-0.187|-0.187	0.13268|0.13268	.|.	.|0.533866	.|0.21259	.|N	.|0.077506	T|T	0.08537|0.08537	0.0212|0.0212	N|N	0.04880|0.04880	-0.145|-0.145	0.80722|0.80722	D|D	1|1	B|B;B	0.02656|0.02656	0.0|0.0;0.0	B|B;B	0.01281|0.04013	0.0|0.001;0.001	T|T	0.21314|0.21314	-1.0249|-1.0249	9|10	0.87932|0.22109	D|T	0|0.4	1.7882|1.7882	2.3672|2.3672	0.04322|0.04322	0.0977:0.1768:0.2983:0.4273|0.0977:0.1768:0.2983:0.4273	.|.	791|828;823	A6NKN2|E7ETY1;Q99708	.|.;COM1_HUMAN	F|I	791|823;823;828	ENSP00000382630:C791F|ENSP00000323050:M823I;ENSP00000382628:M823I;ENSP00000354024:M828I	ENSP00000382627:C791F|ENSP00000323050:M823I	C|M	+|+	2|3	0|0	RBBP8|RBBP8	18856104|18856104	0.926000|0.926000	0.31397|0.31397	0.900000|0.900000	0.35374|0.35374	0.994000|0.994000	0.84299|0.84299	-0.055000|-0.055000	0.11807|0.11807	-0.031000|-0.031000	0.13781|0.13781	0.585000|0.585000	0.79938|0.79938	TGC|ATG	.		0.343	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		T	20602106	G	T	20602106	3	4	8	1	0	0	0	0	1	0	0	0	13150	1319	46	3	2535	3	RBBP8	18	20602106	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10		20602106	57475142	176	1555											
RAX	30062	hgsc.bcm.edu	37	chr18	56940307	56940307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgccgaggatcccgtcGtccttggtaaaccccaggat	12	12	0	0	rs2271733	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr18:56940307G>T	ENST00000334889.3	-	1	318	c.132C>A	c.(130-132)gaC>gaA	p.D44E	RAX_ENST00000256852.7_Missense_Mutation_p.D44E	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	44			D -> E (in dbSNP:rs2271733). {ECO:0000269|PubMed:14662654}.		camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGATCCCGTCGTCCTTGGTAA	0.746													G|||	980	0.195687	0.1452	0.1571	5008	,	,		10556	0.128		0.3002	False		,,,				2504	0.2536				p.D44E	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.C132A						.	G	GLU/ASP	490,2640		39,412,1114	11	9	10		132	0.1	1	18	dbSNP_100	10	1484,4096		212,1060,1518	yes	missense	RAX	NM_013435.2	45	251,1472,2632	TT,TG,GG		26.595,15.655,22.6636	benign	44/347	56940307	1974,6736	1565	2790	4355	SO:0001583	missense	30062	exon1			CCCGTCGTCCTTG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.132C>A	18.37:g.56940307G>T	ENSP00000334813:p.Asp44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_013435	0	0	0	0	0	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	CCDS11972.1	453	0.20741758241758243	75	0.1524390243902439	69	0.19060773480662985	76	0.13286713286713286	233	0.3073878627968338	G	12.43	1.936984	0.34189	0.15655	0.26595	ENSG00000134438	ENST00000256852;ENST00000334889;ENST00000555288	T;D;T	0.87966	0.09;-2.32;0.09	5.56	0.117	0.14652	.	0.213892	0.50627	N	0.000107	T	0.00012	0.0000	N	0.12182	0.205	0.42455	P	0.0072349999999999914	B;B	0.22800	0.075;0.004	B;B	0.23574	0.047;0.009	T	0.06481	-1.0824	9	0.06365	T	0.9	.	0.4639	0.00520	0.2353:0.2064:0.3162:0.2421	rs2271733;rs58469971;rs2271733	44;44	Q86V11;Q9Y2V3	.;RX_HUMAN	E	44	ENSP00000256852:D44E;ENSP00000334813:D44E;ENSP00000450583:D44E	ENSP00000256852:D44E	D	-	3	2	RAX	55091287	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	-0.819000	0.04462	0.271000	0.22005	0.561000	0.74099	GAC	G|0.801;T|0.199		0.746	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			T	56940307	G	T	56940307	3	4	8	1	0	0	0	0	1	0	0	0	13141	1136	40	2	920	2	RAX	18	56940307	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	36338201	56940307	21136941	177	1556											
ZNF236	7776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	74637402	74637402	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctcaactcctcctctactGacccaaacgtgtttatcatg	4	15	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr18:74637402G>C	ENST00000253159.8	+	22	4111	c.3913G>C	c.(3913-3915)Gac>Cac	p.D1305H	ZNF236_ENST00000320610.9_Missense_Mutation_p.D1307H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1305					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCCTCTACTGACCCAAACGT	0.483																																					p.D1305H		.											.	ZNF236-94	0			c.G3913C						.						87	85	85					18																	74637402		1995	4169	6164	SO:0001583	missense	7776	exon22			TCTACTGACCCAA	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3913G>C	18.37:g.74637402G>C	ENSP00000253159:p.Asp1305His	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	160	19	NM_007345	0	0	0	0	0	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174310	0.78452	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11712	2.75;2.88	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03043	-1.1079	10	0.72032	D	0.01	.	17.6314	0.88109	0.0:0.0:1.0:0.0	.	1305	Q9UL36	ZN236_HUMAN	H	1305	ENSP00000253159:D1305H;ENSP00000444524:D1305H	ENSP00000253159:D1305H	D	+	1	0	ZNF236	72766390	1.000000	0.71417	0.602000	0.28890	0.002000	0.02628	7.590000	0.82653	2.216000	0.71823	0.557000	0.71058	GAC	.		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			C	74637402	G	C	74637402	3	2	8	1	0	0	0	0	1	0	0	0	17837	1290	45	3	3999	3	ZNF236	18	74637402	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	17697095	74637402	3439846	178	1557											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929741	929741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgggctgcagctgcgggCctgggacacccagccagccc	15	16	0	0	rs34967265	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:929741C>T	ENST00000263620.3	+	2	540	c.213C>T	c.(211-213)ggC>ggT	p.G71G	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	71						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCGGGCCTGGGACACC	0.766													c|||	805	0.160743	0.354	0.1167	5008	,	,		8522	0.0873		0.0586	False		,,,				2504	0.1115				p.G71G	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.C213T						.	C		862,2694		85,692,1001	3	5	4		213	2.4	0.4	19	dbSNP_126	4	366,7224		12,342,3441	no	coding-synonymous	ARID3A	NM_005224.2		97,1034,4442	TT,TC,CC		4.8221,24.2407,11.0174		71/594	929741	1228,9918	1778	3795	5573	SO:0001819	synonymous_variant	1820	exon2			TGCGGGCCTGGGA	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.213C>T	19.37:g.929741C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	12	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			C|0.865;T|0.135		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		T	929741	C	T	929741	2	4	8	1	0	0	0	0	0	0	0	1	916	726	26	3		3	ARID3A	19	929741	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		929741	58199242	179	1558											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1009485	1009485	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggccctggtgcggcgcggcCagctcctggcacagctcggg	17	15	0	0	rs10401245	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:1009485C>G	ENST00000234389.3	+	9	3035	c.3016C>G	c.(3016-3018)Cag>Gag	p.Q1006E		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1006					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCGGCGCGGCCAGCTCCTGGC	0.766													-|||	2765	0.552117	0.6989	0.4539	5008	,	,		7826	0.3571		0.6044	False		,,,				2504	0.5706				p.Q1006E		.											.	GRIN3B-90	0			c.C3016G						.		GLU/GLN	1366,510		516,334,88	1	2	2		3016	2.3	0	19	dbSNP_119	2	2951,1521		1041,869,326	no	missense	GRIN3B	NM_138690.1	29	1557,1203,414	GG,GC,CC		34.0116,27.1855,31.9943	benign	1006/1044	1009485	4317,2031	938	2236	3174	SO:0001583	missense	116444	exon9			CGCGGCCAGCTCC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3016C>G	19.37:g.1009485C>G	ENSP00000234389:p.Gln1006Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	1149	0.5260989010989011	340	0.6910569105691057	183	0.505524861878453	180	0.3146853146853147	446	0.5883905013192612	G	0.015	-1.555403	0.00918	0.728145	0.659884	ENSG00000116032	ENST00000234389	T	0.05382	3.45	4.53	2.3	0.28687	.	1.124140	0.06884	U	0.803130	T	0.00012	0.0000	N	0.02916	-0.46	0.20821	P	0.999849587	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	9	0.02654	T	1	.	15.4334	0.75121	0.0:0.5531:0.4469:0.0	rs10401245;rs59900162	1006	O60391	NMD3B_HUMAN	E	1006	ENSP00000234389:Q1006E	ENSP00000234389:Q1006E	Q	+	1	0	GRIN3B	960485	0.026000	0.19158	0.004000	0.12327	0.116000	0.19942	0.670000	0.25157	0.107000	0.17824	-0.504000	0.04507	CAG	C|0.474;G|0.526		0.766	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			G	1009485	C	G	1009485	3	3	8	1	0	0	0	0	1	0	0	0	6811	595	21	3	3050	3	GRIN3B	19	1009485	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	79744	1009485	58119498	180	1559											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000313093.2_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000536472.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	24	12	NM_019112	0	0	0	4	4	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	8	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	55559	1065044	58063939	181	1560											
FAM108A1	81926	broad.mit.edu	37	chr19	1881329	1881329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtccagctcgcgctgGctgtactggaagtcggcacg	15	11	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:1881329G>A	ENST00000292577.7	-	2	670	c.237C>T	c.(235-237)agC>agT	p.S79S	ABHD17A_ENST00000250974.9_Silent_p.S79S|ABHD17A_ENST00000590661.1_Silent_p.S79S	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	79						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCTCGCGCTGGCTGTACTGGA	0.701																																					p.S79S		.											.	FAM108A1-90	0			c.C237T						.						25	28	27					19																	1881329		2196	4272	6468	SO:0001819	synonymous_variant	81926	exon2			GCGCTGGCTGTAC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.237C>T	19.37:g.1881329G>A		Somatic	45	1		WXS	Illumina GAIIx	Phase_I	95	5	NM_031213	0	0	152	152	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			.		0.701	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		A	1881329	G	A	1881329	2	1	8	1	0	0	0	0	0	0	0	1	5410	1194	42	3		3	FAM108A1	19	1881329	Silent	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	816285	1881329	57247654	182	1561											
FUT3	2525	broad.mit.edu;bcgsc.ca	37	chr19	5844077	5844077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcgttcctccacagcttCtcggtgatgtagtcggggtg	15	10	1	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:5844077C>A	ENST00000303225.6	-	3	1408	c.774G>T	c.(772-774)gaG>gaT	p.E258D	FUT3_ENST00000458379.2_Missense_Mutation_p.E258D|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.E258D|FUT3_ENST00000589620.1_Missense_Mutation_p.E258D	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	258					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCCACAGCTTCTCGGTGATGT	0.637																																					p.E258D	Esophageal Squamous(82;745 1728 24593 44831)	.											.	FUT3-90	0			c.G774T						.						66	67	67					19																	5844077		2201	4298	6499	SO:0001583	missense	2525	exon3			CAGCTTCTCGGTG		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.774G>T	19.37:g.5844077C>A	ENSP00000305603:p.Glu258Asp	Somatic	393	1		WXS	Illumina GAIIx	Phase_I	427	48	NM_001097640	0	0	0	0	0	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473204	0.43942	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.65178	-0.14;-0.14	2.29	2.29	0.28610	.	0.000000	0.64402	D	0.000018	T	0.82226	0.4991	H	0.94306	3.52	0.36578	D	0.873352	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	0.87718	0.2571	10	0.87932	D	0	.	10.7145	0.46005	0.0:1.0:0.0:0.0	.	258;258;258;258	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	D	258	ENSP00000305603:E258D;ENSP00000416443:E258D	ENSP00000305603:E258D	E	-	3	2	FUT3	5795077	1.000000	0.71417	0.744000	0.31058	0.211000	0.24417	2.185000	0.42584	1.221000	0.43506	0.194000	0.17425	GAG	.		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5844077	C	A	5844077	3	1	8	1	0	0	0	0	1	0	0	0	6129	912	32	3	315	3	FUT3	19	5844077	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3962748	5844077	53284906	183	1562											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399628	8399628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccgcgctggtgctccagActggcgcgcagcagctctag	13	16	1	1	rs710949	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:8399628A>G	ENST00000593649.1	-	3	1148	c.1083T>C	c.(1081-1083)agT>agC	p.S361S	KANK3_ENST00000330915.3_Silent_p.S361S			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	361										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGTGCTCCAGACTGGCGCGCA	0.766													G|||	3017	0.602436	0.7443	0.6153	5008	,	,		10732	0.4147		0.5984	False		,,,				2504	0.5992				p.S361S		.											.	KANK3-90	0			c.T1083C						.	G		1917,541		783,351,95	1	1	1		1083	3.4	1	19	dbSNP_86	1	3649,1585		1364,921,332	no	coding-synonymous	KANK3	NM_198471.2		2147,1272,427	GG,GA,AA		30.2828,22.0098,27.6391		361/822	8399628	5566,2126	1229	2617	3846	SO:0001819	synonymous_variant	256949	exon3			CTCCAGACTGGCG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1083T>C	19.37:g.8399628A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				A|0.411;G|0.589		0.766	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		G	8399628	A	G	8399628	2	3	8	1	0	0	0	0	0	0	0	1	8005	272	10	4		4	KANK3	19	8399628	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	2555551	8399628	50729355	184	1563											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13319693	13319693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	25	4	0	0	rs16051	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	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.6657T>C	19.37:g.13319693A>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	14	12	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	8	1	0	0	0	0	0	0	0	1	2545	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	4920065	13319693	45809290	185	1564											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	25	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	8	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	26041027	39360720	19768263	186	1565											
ZNF221	7638	ucsc.edu;bcgsc.ca	37	chr19	44470147	44470147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagactatctataagtcacGtgcaacagaaaccttaccgt	6	11	2	2	rs16976937	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:44470147G>A	ENST00000251269.5	+	6	821	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	ZNF221_ENST00000587682.1_Missense_Mutation_p.V165M|ZNF221_ENST00000592350.1_Missense_Mutation_p.V165M	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	165			V -> M (in dbSNP:rs16976937).		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(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TATAAGTCACGTGCAACAGAA	0.418													G|||	391	0.0780751	0.2057	0.0231	5008	,	,		23058	0.0119		0.0258	False		,,,				2504	0.0665				p.V165M		.											.	ZNF221-91	0			c.G493A						.	G	MET/VAL	728,3678	300.4+/-286.3	73,582,1548	134	114	121		493	0.2	0	19	dbSNP_123	121	192,8408	84.8+/-147.2	1,190,4109	yes	missense	ZNF221	NM_013359.2	21	74,772,5657	AA,AG,GG		2.2326,16.5229,7.0737	benign	165/618	44470147	920,12086	2203	4300	6503	SO:0001583	missense	7638	exon6			AGTCACGTGCAAC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.493G>A	19.37:g.44470147G>A	ENSP00000251269:p.Val165Met	Somatic	194	2		WXS	Illumina GAIIx	Phase_I	205	114	NM_013359	0	0	0	0	0	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	95	0.043498168498168496	65	0.13211382113821138	6	0.016574585635359115	2	0.0034965034965034965	22	0.029023746701846966	g	11.62	1.694269	0.30052	0.165229	0.022326	ENSG00000159905	ENST00000251269	T	0.05786	3.39	2.59	0.173	0.15036	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.53885	0.963	P	0.47603	0.551	T	0.48198	-0.9056	8	0.72032	D	0.01	.	4.087	0.09951	0.6595:0.2076:0.1329:0.0	rs16976937;rs52800071;rs16976937	165	Q9UK13	ZN221_HUMAN	M	165	ENSP00000251269:V165M	ENSP00000251269:V165M	V	+	1	0	ZNF221	49161987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.307000	0.02733	-0.159000	0.11021	-0.379000	0.06801	GTG	G|0.935;A|0.065		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			A	44470147	G	A	44470147	3	1	8	1	0	0	0	0	1	0	0	0	17823	1145	40	1	507	1	ZNF221	19	44470147	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	5109427	44470147	14658836	187	1566											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_145807	0	0	0	2	2	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	8	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	4694805	49164952	9964031	188	1567											
PPP1R15A	23645	bcgsc.ca	37	chr19	49377436	49377436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaggagggtgaggtcaagGctttgggggcagctgagaag	20	4	1	3	rs556052	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:49377436G>C	ENST00000200453.5	+	2	1215	c.946G>C	c.(946-948)Gct>Cct	p.A316P		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	316	Glu-rich.		A -> P (in dbSNP:rs556052). {ECO:0000269|PubMed:14702039}.		apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGAGGTCAAGGCTTTGGGGGC	0.622													G|||	2132	0.425719	0.7761	0.3329	5008	,	,		18799	0.1151		0.336	False		,,,				2504	0.4305				p.A316P		.											.	PPP1R15A-226	0			c.G946C						.	G	PRO/ALA	3190,1216	705.8+/-407.3	1158,874,171	73	78	76		946	1.2	0	19	dbSNP_83	76	2910,5690	452.5+/-363.0	490,1930,1880	yes	missense	PPP1R15A	NM_014330.3	27	1648,2804,2051	CC,CG,GG		33.8372,27.5987,46.9014	possibly-damaging	316/675	49377436	6100,6906	2203	4300	6503	SO:0001583	missense	23645	exon2			GTCAAGGCTTTGG	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.946G>C	19.37:g.49377436G>C	ENSP00000200453:p.Ala316Pro	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	123	6	NM_014330	1	0	132	133	0	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	805	0.3685897435897436	358	0.7276422764227642	123	0.3397790055248619	71	0.12412587412587413	253	0.3337730870712401	G	8.601	0.886951	0.17540	0.724013	0.338372	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05319	3.46	4.68	1.24	0.21308	.	1.663540	0.03882	N	0.277310	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	9	0.29301	T	0.29	2.0956	7.9394	0.29950	0.147:0.1372:0.7158:0.0	rs556052;rs3170540;rs3745700;rs556052	316	O75807	PR15A_HUMAN	P	316;156;274	ENSP00000200453:A316P	ENSP00000200453:A316P	A	+	1	0	PPP1R15A	54069248	0.070000	0.21116	0.000000	0.03702	0.000000	0.00434	2.920000	0.48844	-0.076000	0.12775	-1.761000	0.00669	GCT	G|0.500;C|0.500		0.622	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377436	G	C	49377436	3	2	8	1	0	0	0	0	1	0	0	0	12405	1203	42	3	948	3	PPP1R15A	19	49377436	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	212484	49377436	9751547	189	1568											
HAS1	3036	hgsc.bcm.edu	37	chr19	52223026	52223026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtagcgatcggaggccagCggcaccccggcggcgtaggc	17	15	0	0	rs61736497	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:52223026C>A	ENST00000222115.1	-	2	169	c.135G>T	c.(133-135)ccG>ccT	p.P45P	HAS1_ENST00000594621.1_5'Flank|HAS1_ENST00000601714.1_Silent_p.P52P|HAS1_ENST00000540069.2_Silent_p.P44P	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	45					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGAGGCCAGCGGCACCCCGG	0.711													c|||	271	0.0541134	0.1891	0.0202	5008	,	,		12432	0		0.003	False		,,,				2504	0.0041				p.P45P	NSCLC(132;636 2450 45807 47979)	.											.	HAS1-92	0			c.G135T						.	C		634,3594		36,562,1516	5	7	6		135	-6.3	1	19	dbSNP_129	6	8,8282		0,8,4137	no	coding-synonymous	HAS1	NM_001523.2		36,570,5653	AA,AC,CC		0.0965,14.9953,5.1286		45/579	52223026	642,11876	2114	4145	6259	SO:0001819	synonymous_variant	3036	exon2			GGCCAGCGGCACC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.135G>T	19.37:g.52223026C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	53	17	NM_001523	0	0	0	0	0	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																			C|0.946;A|0.054		0.711	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52223026	C	A	52223026	2	1	8	1	0	0	0	0	0	0	0	1	6988	755	27	2		2	HAS1	19	52223026	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	2845590	52223026	6905957	190	1569											
HSPBP1	23640	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	55785775	55785775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacactcacaggagatggCgaagagggccttgacgcgca	15	11	1	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:55785775C>A	ENST00000255631.5	-	5	941	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.A211S|HSPBP1_ENST00000433386.2_Missense_Mutation_p.A211S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	214					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CAGGAGATGGCGAAGAGGGCC	0.726																																					p.A211S		.											.	HSPBP1-90	0			c.G631T						.						10	9	9					19																	55785775		2147	4228	6375	SO:0001583	missense	23640	exon4			AGATGGCGAAGAG		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.631G>T	19.37:g.55785775C>A	ENSP00000255631:p.Ala211Ser	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	37	20	NM_012267	0	0	0	0	0	B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391091	0.95988	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.60424	0.19;0.19	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.80246	-0.1462	10	0.72032	D	0.01	-24.662	18.7345	0.91749	0.0:1.0:0.0:0.0	.	214;257	Q9NZL4;B4DG11	HPBP1_HUMAN;.	S	211	ENSP00000398244:A211S;ENSP00000255631:A211S	ENSP00000255631:A211S	A	-	1	0	HSPBP1	60477587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.305000	0.72805	2.813000	0.96785	0.655000	0.94253	GCC	.		0.726	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		A	55785775	C	A	55785775	3	1	8	1	0	0	0	0	1	0	0	0	7453	768	27	2	468	2	HSPBP1	19	55785775	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	3562749	55785775	3343208	191	1570											
ZNF579	163033	hgsc.bcm.edu	37	chr19	56090493	56090493	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgcaggccacgtctcAggccacgctgcgaccgcctc	10	21	1	0	rs12974617	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr19:56090493A>C	ENST00000325421.4	-	2	541	c.513T>G	c.(511-513)ccT>ccG	p.P171P	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	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)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCCACGTCTCAGGCCACGCTG	0.771													A|||	891	0.177915	0.1808	0.196	5008	,	,		8843	0.1825		0.172	False		,,,				2504	0.1626				p.P171P		.											.	ZNF579-90	0			c.T513G						.	A		405,2995		16,373,1311	3	3	3		513	-2	0	19	dbSNP_121	3	947,5815		53,841,2487	no	coding-synonymous	ZNF579	NM_152600.2		69,1214,3798	CC,CA,AA		14.0047,11.9118,13.3045		171/563	56090493	1352,8810	1700	3381	5081	SO:0001819	synonymous_variant	163033	exon2			CGTCTCAGGCCAC	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.513T>G	19.37:g.56090493A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_152600	0	0	0	2	2		Silent	SNP	ENST00000325421.4	37	CCDS12927.1																																																																																			A|0.837;C|0.163		0.771	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		C	56090493	A	C	56090493	2	2	8	1	0	0	0	0	0	0	0	1	18059	175	7	5		5	ZNF579	19	56090493	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	304718	56090493	3038490	192	1571											
TCF15	6939	hgsc.bcm.edu	37	chr20	590456	590456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcactgcccgcggcAcggaagcacggctgcccgtc	13	18	0	0	rs282164	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7	8	8		426	-9	0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_004609	0	0	0	1	1	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		G	590456	A	G	590456	2	3	8	1	0	0	0	0	0	0	0	1	15735	146	6	4		4	TCF15	20	590456	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10		590456	62435064	193	1572											
PANK2	80025	hgsc.bcm.edu	37	chr20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgctgctgcggatgggagGgggccggctcggcgcgccca	19	13	0	0	rs3737084	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.G3A|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2	3	3		,377	4.7	1	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_153638	0	0	0	2	2	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3870124	G	C	3870124	3	2	8	1	0	0	0	0	1	0	0	0	11456	1232	43	3	379	3	PANK2	20	3870124	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	3279668	3870124	59155396	194	1573											
SMOX	54498	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	4168035	4168035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgagatgtaccgagaccTcttccagcaggggacctgag	12	11	1	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:4168035T>C	ENST00000305958.4	+	7	1874	c.1649T>C	c.(1648-1650)cTc>cCc	p.L550P	SMOX_ENST00000379460.2_Missense_Mutation_p.L550P|SMOX_ENST00000339123.6_Missense_Mutation_p.L497P|SMOX_ENST00000278795.3_Missense_Mutation_p.L527P|SMOX_ENST00000346595.2_Missense_Mutation_p.L185P	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	550					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TACCGAGACCTCTTCCAGCAG	0.637																																					p.L580P		.											.	SMOX-153	0			c.T1739C						.						63	56	58					20																	4168035		2203	4300	6503	SO:0001583	missense	54498	exon8			GAGACCTCTTCCA	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1649T>C	20.37:g.4168035T>C	ENSP00000307252:p.Leu550Pro	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	172	13	NM_001270691	0	0	42	53	11	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355291	0.61293	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	T;T;T;T;T;T	0.52057	1.37;1.77;1.28;0.68;1.77;1.27	5.09	5.09	0.68999	.	0.876172	0.10166	N	0.707688	T	0.52821	0.1758	N	0.12182	0.205	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.991;0.999;0.998;1.0	P;D;D;D;D;D	0.87578	0.903;0.998;0.955;0.986;0.955;0.997	T	0.52815	-0.8525	10	0.66056	D	0.02	-23.0749	12.8378	0.57784	0.0:0.0:0.0:1.0	.	474;580;185;550;497;527	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	P	497;550;527;185;550;437	ENSP00000344595:L497P;ENSP00000307252:L550P;ENSP00000278795:L527P;ENSP00000341775:L185P;ENSP00000368773:L550P;ENSP00000407269:L437P	ENSP00000278795:L527P	L	+	2	0	SMOX	4116035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	1.912000	0.55364	0.455000	0.32223	CTC	.		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		C	4168035	T	C	4168035	3	2	8	1	0	0	0	0	1	0	0	0	14848	1551	54	4	1765	4	SMOX	20	4168035	Missense_Mutation	SNP	T	TCGA-OR-A5J8-01A-11D-A29I-10	297911	4168035	58857485	195	1574											
LRRN4	164312	hgsc.bcm.edu	37	chr20	6033033	6033033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggcccggtgcacggcGgcagagcggccagctggttg	20	13	0	1	rs6107751	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:6033033G>A	ENST00000378858.4	-	2	637	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	138			P -> L (in dbSNP:rs6107751). {ECO:0000269|PubMed:15489334}.		long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGTGCACGGCGGCAGAGCGGC	0.781													G|||	565	0.112819	0.053	0.1844	5008	,	,		11700	0.0972		0.173	False		,,,				2504	0.0971				p.P138L		.											.	LRRN4-93	0			c.C413T						.	G	LEU/PRO	120,2142		3,114,1014	2	2	2		413	4.2	0.8	20	dbSNP_114	2	724,4820		32,660,2080	no	missense	LRRN4	NM_152611.3	98	35,774,3094	AA,AG,GG		13.0592,5.305,10.8122	possibly-damaging	138/741	6033033	844,6962	1131	2772	3903	SO:0001583	missense	164312	exon2			CACGGCGGCAGAG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.413C>T	20.37:g.6033033G>A	ENSP00000368135:p.Pro138Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_152611	0	0	0	0	0	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	CCDS13097.1	295	0.13507326007326007	29	0.05894308943089431	65	0.17955801104972377	62	0.10839160839160839	139	0.18337730870712401	G	16.04	3.009170	0.54361	0.05305	0.130592	ENSG00000125872	ENST00000378858	T	0.09073	3.02	5.09	4.15	0.48705	.	0.091120	0.46758	D	0.000263	T	0.00039	0.0001	M	0.76328	2.33	0.22762	P	0.99876042	D;P	0.59767	0.986;0.809	P;P	0.57960	0.83;0.787	T	0.04915	-1.0918	9	0.87932	D	0	-27.3795	13.7965	0.63175	0.0747:0.0:0.9253:0.0	rs6107751;rs17852455	138;138	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	L	138	ENSP00000368135:P138L	ENSP00000368135:P138L	P	-	2	0	LRRN4	5981033	0.997000	0.39634	0.763000	0.31416	0.008000	0.06430	2.667000	0.46808	1.278000	0.44430	0.491000	0.48974	CCG	G|0.864;A|0.136		0.781	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		A	6033033	G	A	6033033	3	1	8	1	0	0	0	0	1	0	0	0	9072	1116	39	1	1825	1	LRRN4	20	6033033	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	1864998	6033033	56992487	196	1575											
RBM12	10137	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	34241123	34241123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttgatcctacagtcaGgaaggcatgctcttcacctc	7	13	3	1			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:34241123G>T	ENST00000374114.3	-	3	2385	c.2122C>A	c.(2122-2124)Ctg>Atg	p.L708M	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.L708M|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.L708M|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	708	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTACAGTCAGGAAGGCATGC	0.522																																					p.L708M		.											.	RBM12-93	0			c.C2122A						.						57	54	55					20																	34241123		2195	4284	6479	SO:0001583	missense	10137	exon2			CAGTCAGGAAGGC	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2122C>A	20.37:g.34241123G>T	ENSP00000363228:p.Leu708Met	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	83	7	NM_001198840	0	0	20	20	0	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	5.240	0.229678	0.09916	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.19806	2.12;2.12;2.12	5.01	-0.95	0.10372	.	0.000000	0.64402	D	0.000012	T	0.08980	0.0222	N	0.24115	0.695	0.23555	N	0.997423	P	0.35982	0.531	B	0.33042	0.157	T	0.18493	-1.0335	10	0.30078	T	0.28	-3.9993	2.3122	0.04189	0.4335:0.119:0.3265:0.121	.	708	Q9NTZ6	RBM12_HUMAN	M	708;708;708;507	ENSP00000363228:L708M;ENSP00000352668:L708M;ENSP00000363217:L708M	ENSP00000339879:L507M	L	-	1	2	RBM12	33704537	1.000000	0.71417	0.614000	0.29051	0.100000	0.18952	0.797000	0.26999	-0.312000	0.08741	-0.251000	0.11542	CTG	.		0.522	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		T	34241123	G	T	34241123	3	4	8	1	0	0	0	0	1	0	0	0	13158	991	35	3	680	3	RBM12	20	34241123	Missense_Mutation	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	28208090	34241123	28784397	197	1576											
CDH22	64405	hgsc.bcm.edu;broad.mit.edu	37	chr20	44803312	44803312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtccgcgccctcgaaggCgtaggtctggaaggcgtcgt	16	12	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:44803312C>T	ENST00000372262.3	-	11	2720	c.2320G>A	c.(2320-2322)Gcc>Acc	p.A774T	CDH22_ENST00000537909.1_Missense_Mutation_p.A774T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	774					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)				CCCTCGAAGGCGTAGGTCTGG	0.682																																					p.A774T		.											.	CDH22-95	0			c.G2320A						.						8	8	8					20																	44803312		2131	4203	6334	SO:0001583	missense	64405	exon12			CGAAGGCGTAGGT	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.2320G>A	20.37:g.44803312C>T	ENSP00000361336:p.Ala774Thr	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	108	13	NM_021248	0	0	0	0	0	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742724	0.89573	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.78707	-1.2;-1.2	3.82	2.85	0.33270	Cadherin, cytoplasmic domain (1);	0.066212	0.64402	N	0.000014	D	0.86838	0.6029	M	0.81179	2.53	0.48040	D	0.999572	D	0.89917	1.0	D	0.91635	0.999	D	0.87308	0.2310	10	0.72032	D	0.01	.	11.6424	0.51242	0.1791:0.8209:0.0:0.0	.	774	Q9UJ99	CAD22_HUMAN	T	774	ENSP00000361336:A774T;ENSP00000437790:A774T	ENSP00000361336:A774T	A	-	1	0	CDH22	44236719	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.567000	0.67378	0.794000	0.33899	-0.188000	0.12872	GCC	.		0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44803312	C	T	44803312	3	4	8	1	0	0	0	0	1	0	0	0	3114	768	27	1	170	1	CDH22	20	44803312	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	10562189	44803312	18222208	198	1577											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60900600	60900600	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtctccgtatgccggaagttCccctgtgggtccaggatggc	14	12	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr20:60900600C>A	ENST00000252999.3	-	41	5367	c.5301G>T	c.(5299-5301)ggG>ggT	p.G1767G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1767	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)			GCCGGAAGTTCCCCTGTGGGT	0.627																																					p.G1767G		.											.	LAMA5-93	0			c.G5301T						.						53	40	44					20																	60900600		2202	4298	6500	SO:0001819	synonymous_variant	3911	exon41			GAAGTTCCCCTGT	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.5301G>T	20.37:g.60900600C>A		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	197	42	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			.		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60900600	C	A	60900600	2	1	8	1	0	0	0	0	0	0	0	1	8637	842	30	3		3	LAMA5	20	60900600	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	16097288	60900600	2124920	199	1578											
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	30	8	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	8	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5J8-01A-11D-A29I-10		21343966	29960600	200	1579											
NEFH	4744	hgsc.bcm.edu;ucsc.edu	37	chr22	29885594	29885594	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	13	11	0	3	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																					p.P655P		.											.	NEFH-90	0			c.A1965T						.						83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GTCCCCAGAGAAG		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.1965A>T	22.37:g.29885594A>T		Somatic	223	0		WXS	Illumina GAIIx	Phase_I	198	47	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			A|0.500;T|0.500		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	8	1	0	0	0	0	0	0	0	1	10353	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-OR-A5J8-01A-11D-A29I-10	8541628	29885594	21418972	201	1580											
NEFH	4744	broad.mit.edu	37	chr22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG													agaggccaagtcccctgagaINSaggccaagtccccagtgaag					rs267607534|rs267607535		TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chr22:29885622_29885623insAGGAAG	ENST00000310624.6	+	4	2026_2027	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	671	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						GTCCCCTGAGAAGGCCAAGTCC	0.579																																					p.K665delinsKEE		.											.	NEFH-90	0			c.1993_1994insAGGAAG						.																																			SO:0001652	inframe_insertion	4744	exon4			CCTGAGAAGGCCA		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	Exception_encountered	22.37:g.29885622_29885623insAGGAAG	ENSP00000311997:p.Lys665_Ala666insGluGlu	Somatic	277	0		WXS	Illumina GAIIx	Phase_I	228	7	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.579	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGGAAG	29885623	-	AGGAAG	29885622	7	5	8	1	0	1	1	0	0	0	0	0	10353	247	9	0	2007	0	NEFH	22	29885622	In_Frame_Ins	INS	-	TCGA-OR-A5J8-01A-11D-A29I-10	28	29885622	21418944	202	1581											
SFRS17A	8227	bcgsc.ca	37	chrX	1713021	1713021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctatgtgcagtaccgCgagtacatgggcttcatcca	12	11	1	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:1713021C>T	ENST00000313871.3	+	2	862	c.666C>T	c.(664-666)cgC>cgT	p.R222R	AKAP17A_ENST00000381261.3_Silent_p.R222R	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	222	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGCAGTACCGCGAGTACATGG	0.607													c|||	2801	0.559305	0.5832	0.5115	5008	,	,		19903	0.5268		0.5875	False		,,,				2504	0.5654				p.R222R		.											.	AKAP17A-40	0			c.C666T						.			2444,1962		683,1078,442	111	102	105		666	-0.7	0	X	dbSNP_134	105	4590,4002		1181,2228,887	no	coding-synonymous	AKAP17A	NM_005088.2		1864,3306,1329	TT,TC,CC		46.5782,44.5302,45.884		222/696	1713021	7034,5964	2203	4296	6499	SO:0001819	synonymous_variant	8227	exon2			GTACCGCGAGTAC	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.666C>T	X.37:g.1713021C>T		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	125	6	NM_005088	0	0	20	20	0	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	CCDS14116.1																																																																																			C|0.453;T|0.547		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		T	1713021	C	T	1713021	2	4	8	1	0	0	0	0	0	0	0	1	14218	755	27	1		1	SFRS17A	23	1713021	Silent	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10		1713021	153557539	203	1582											
MAP7D2	256714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	20044071	20044071	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gataagctttagtagctgtcCtggaaaacaaaaaatatgcc	8	7	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:20044071C>A	ENST00000379651.3	-	8	903		c.e8-1		MAP7D2_ENST00000443379.3_Splice_Site|MAP7D2_ENST00000543767.1_Splice_Site|MAP7D2_ENST00000452324.3_Splice_Site|MAP7D2_ENST00000466145.1_5'Flank|MAP7D2_ENST00000379643.5_Splice_Site	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2						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						AGTAGCTGTCCTGGAAAACAA	0.473																																					.		.											.	MAP7D2-195	0			c.729-1G>T						.						110	109	109					X																	20044071		2203	4300	6503	SO:0001630	splice_region_variant	256714	exon9			GCTGTCCTGGAAA	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.885-1G>T	X.37:g.20044071C>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	87	21	NM_001168467	0	0	0	0	0	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Splice_Site	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400348	0.62177	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2136	0.73247	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7D2	19953992	1.000000	0.71417	0.095000	0.20976	0.700000	0.40528	4.515000	0.60489	2.270000	0.75569	0.594000	0.82650	.	.		0.473	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	Intron	A	20044071	C	A	20044071	5	1	8	1	0	0	0	0	0	0	1	0	9306	695	24	3	1346	3	MAP7D2	23	20044071	Splice_Site	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	18331050	20044071	135226489	204	1583											
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382525	24382525	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgctcctgctcctgccGctgctcctgctgtagctgct	9	18	0	0			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:24382525G>C								AC004552.1 (15502 upstream) : PDK3 (100812 downstream)																							tgctcctgccgctgctcctgc	0.617																																					p.A550P		.											.	.	0			c.G1648C						.						5	5	5					X																	24382525		1460	3309	4769	SO:0001628	intergenic_variant	100130302	exon1			CCTGCCGCTGCTC																													X.37:g.24382525G>C		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	91	14	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.617									C	24382525	G	C	24382525	1	2	8	0	1	0	0	0	0	0	0	0	5595	1087	38	2		2	FAM48B1	23	24382525	IGR	SNP	G	TCGA-OR-A5J8-01A-11D-A29I-10	4338454	24382525	130888035	205	1584											
CXorf22	170063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	35993875	35993875	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtaacacttgagctatcttCtaatgagctagtattgagac	8	7	2	3			TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:35993875C>A	ENST00000297866.5	+	15	2624	c.2558C>A	c.(2557-2559)tCt>tAt	p.S853Y		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	853										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGCTATCTTCTAATGAGCTA	0.428																																					p.S853Y		.											.	CXorf22-131	0			c.C2558A						.						158	135	143					X																	35993875		2202	4300	6502	SO:0001583	missense	170063	exon15			TATCTTCTAATGA	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2558C>A	X.37:g.35993875C>A	ENSP00000297866:p.Ser853Tyr	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	140	18	NM_152632	0	0	0	0	0	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291912	0.23564	.	.	ENSG00000165164	ENST00000297866	T	0.15487	2.42	5.14	2.33	0.28932	.	0.673117	0.15167	N	0.276878	T	0.32376	0.0827	M	0.72118	2.19	0.09310	N	1	D	0.67145	0.996	D	0.63381	0.914	T	0.11891	-1.0569	10	0.62326	D	0.03	-2.6067	5.2603	0.15569	0.1634:0.6511:0.0:0.1855	.	853	Q6ZTR5	CX022_HUMAN	Y	853	ENSP00000297866:S853Y	ENSP00000297866:S853Y	S	+	2	0	CXorf22	35903796	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.719000	0.25881	0.048000	0.15891	0.600000	0.82982	TCT	.		0.428	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35993875	C	A	35993875	3	1	8	1	0	0	0	0	1	0	0	0	4111	913	32	3	2616	3	CXorf22	23	35993875	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	11611350	35993875	119276685	206	1585											
GUCY2F	2986	ucsc.edu;bcgsc.ca	37	chrX	108696981	108696981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactgcatgtttctggaatgCtgaaccaggctggcagcacc	11	11	1	1	rs2272925	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:108696981C>A	ENST00000218006.2	-	4	1431	c.1140G>T	c.(1138-1140)caG>caT	p.Q380H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	380			Q -> H (in dbSNP:rs2272925). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCTGGAATGCTGAACCAGGC	0.408													C|||	202	0.0535099	0.0998	0.0072	3775	,	,		14944	0.0486		0.006	False		,,,				2504	0.0102				p.Q380H		.											.	GUCY2F-540	0			c.G1140T						.	C	HIS/GLN	498,3337		29,366,74,1237,497	69	57	61		1140	4.2	1	X	dbSNP_100	61	4,6724		0,4,0,2424,1872	yes	missense	GUCY2F	NM_001522.2	24	29,370,74,3661,2369	AA,AC,A,CC,C		0.0595,12.9857,4.7524	benign	380/1109	108696981	502,10061	2203	4300	6503	SO:0001583	missense	2986	exon4			GGAATGCTGAACC	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.1140G>T	X.37:g.108696981C>A	ENSP00000218006:p.Gln380His	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	42	5	NM_001522	0	0	0	0	0	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	82	0.04942736588306208	42	0.09051724137931035	1	0.002777777777777778	13	0.023297491039426525	4	0.005277044854881266	C	10.85	1.467877	0.26335	0.129857	5.95E-4	ENSG00000101890	ENST00000218006	D	0.82893	-1.66	4.25	4.25	0.50352	Extracellular ligand-binding receptor (1);	0.428370	0.24564	N	0.037443	T	0.01835	0.0058	N	0.19112	0.55	0.24533	P	0.99410111	B	0.06786	0.001	B	0.13407	0.009	T	0.45977	-0.9224	9	0.37606	T	0.19	.	13.4938	0.61411	0.0:1.0:0.0:0.0	rs2272925;rs52818381;rs2272925	380	P51841	GUC2F_HUMAN	H	380	ENSP00000218006:Q380H	ENSP00000218006:Q380H	Q	-	3	2	GUCY2F	108583637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.969000	0.29370	2.351000	0.79841	0.513000	0.50165	CAG	C|0.934;A|0.066		0.408	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108696981	C	A	108696981	3	1	8	1	0	0	0	0	1	0	0	0	6925	796	28	3	2250	3	GUCY2F	23	108696981	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	72703106	108696981	46573579	207	1586											
SLC25A43	203427	bcgsc.ca	37	chrX	118587003	118587003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcaaaacgagaaaacCgaagcctaaaaaaccaactc	5	11	2	1	rs3810755	byFrequency	TCGA-OR-A5J8-01A-11D-A29I-10	TCGA-OR-A5J8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b2182eee-242e-4d38-8d23-aa9ea31e69e9	bcbf3b2d-2175-4d7e-a175-1a4f35149860	g.chrX:118587003C>T	ENST00000217909.7	+	5	1345	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	334			P -> L (in dbSNP:rs3810755). {ECO:0000269|PubMed:15489334}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ACGAGAAAACCGAAGCCTAAA	0.408													T|||	2144	0.567947	0.4478	0.3919	3775	,	,		14788	0.4077		0.4334	False		,,,				2504	0.4427				p.P334L		.											.	SLC25A43-130	0			c.C1001T						.	T	LEU/PRO	2295,1540		601,752,341,279,230	79	82	81		1001	5.2	0.3	X	dbSNP_107	81	3899,2828		822,1197,1058,409,813	yes	missense	SLC25A43	NM_145305.2	98	1423,1949,1399,688,1043	TT,TC,T,CC,C		42.0395,40.1565,41.3558	benign	334/342	118587003	6194,4368	2203	4299	6502	SO:0001583	missense	203427	exon5			GAAAACCGAAGCC	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.1001C>T	X.37:g.118587003C>T	ENSP00000217909:p.Pro334Leu	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	125	8	NM_145305	0	0	8	8	0	O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	CCDS14577.1	906	0.546112115732369	156	0.42857142857142855	97	0.35661764705882354	145	0.3419811320754717	222	0.40217391304347827	T	4.463	0.085769	0.08583	0.598435	0.579605	ENSG00000077713	ENST00000217909;ENST00000326714	T	0.76316	-1.01	5.24	5.24	0.73138	.	.	.	.	.	T	0.00012	0.0000	N	0.00436	-1.5	0.28831	P	0.897126	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	8	0.06757	T	0.87	0.016	9.5806	0.39486	0.0:0.0832:0.0:0.9168	rs3810755;rs17842216;rs17855482;rs52793991;rs56481507;rs56752420;rs3810755	334	Q8WUT9	S2543_HUMAN	L	334;282	ENSP00000217909:P334L	ENSP00000217909:P334L	P	+	2	0	SLC25A43	118471031	0.914000	0.31030	0.338000	0.25549	0.930000	0.56654	3.893000	0.56243	0.653000	0.30826	-0.314000	0.08810	CCG	0|0.015;T|0.445		0.408	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		T	118587003	C	T	118587003	3	4	8	1	0	0	0	0	1	0	0	0	14553	652	23	1	1019	1	SLC25A43	23	118587003	Missense_Mutation	SNP	C	TCGA-OR-A5J8-01A-11D-A29I-10	9890022	118587003	36683557	208	1587											
PLEKHG5	57449	hgsc.bcm.edu;broad.mit.edu	37	chr1	6530886	6530886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttggtgagccgctggtggGgtttggccagcatgtcgctc	16	10	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:6530886G>T	ENST00000400915.3	-	15	1685	c.1619C>A	c.(1618-1620)cCc>cAc	p.P540H	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P561H|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P521H|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.P561H|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P484H|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P553H|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P484H|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P484H|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P484H|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P484H|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P563H|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P484H	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	540	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		CCGCTGGTGGGGTTTGGCCAG	0.692																																					p.P563H		.											.	PLEKHG5-652	0			c.C1688A						.						18	15	16					1																	6530886		2200	4291	6491	SO:0001583	missense	57449	exon15			TGGTGGGGTTTGG	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.1619C>A	1.37:g.6530886G>T	ENSP00000383706:p.Pro540His	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_001265592	0	0	0	0	0	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.359132	0.82353	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	4.55	4.55	0.56014	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98298	1.0517	10	0.87932	D	0	-29.7413	15.8724	0.79132	0.0:0.0:1.0:0.0	.	553;484;561;561;540	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	H	561;484;484;540;561;521;484;484;553;484;390;563;484	ENSP00000366977:P561H;ENSP00000344570:P484H;ENSP00000383704:P484H;ENSP00000383706:P540H;ENSP00000366969:P561H;ENSP00000366961:P521H;ENSP00000366957:P484H;ENSP00000366954:P484H;ENSP00000441445:P553H;ENSP00000366966:P484H;ENSP00000439625:P563H;ENSP00000437710:P484H	ENSP00000344570:P484H	P	-	2	0	PLEKHG5	6453473	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.847000	0.92166	2.069000	0.61940	0.457000	0.33378	CCC	.		0.692	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6530886	G	T	6530886	3	4	9	1	0	0	0	0	1	0	0	0	12112	1232	43	3	1601	3	PLEKHG5	1	6530886	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		6530886	242719735	1	1588											
RERE	473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	8557547	8557547	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcatgttgggtcactgtatCaccatctggagaaggaaatg	11	8	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:8557547C>A	ENST00000337907.3	-	10	1556	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	RERE_ENST00000400907.2_Missense_Mutation_p.D308Y|RERE_ENST00000377464.1_Missense_Mutation_p.D40Y|RERE_ENST00000400908.2_Missense_Mutation_p.D308Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	308	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCACTGTATCACCATCTGGA	0.448																																					p.D308Y		.											.	RERE-515	0			c.G922T						.						185	158	167					1																	8557547		2203	4300	6503	SO:0001583	missense	473	exon10			CTGTATCACCATC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.922G>T	1.37:g.8557547C>A	ENSP00000338629:p.Asp308Tyr	Somatic	258	1		WXS	Illumina GAIIx	Phase_I	177	73	NM_012102	0	0	2	3	1	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502477	0.64298	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.84	5.84	0.93424	ELM2 domain (2);	.	.	.	.	T	0.42877	0.1222	L	0.27053	0.805	0.54753	D	0.999981	P;P	0.50369	0.934;0.934	P;P	0.53593	0.73;0.454	T	0.29119	-1.0022	9	0.66056	D	0.02	-19.9575	18.6984	0.91611	0.0:1.0:0.0:0.0	.	40;308	B1AKN3;Q9P2R6	.;RERE_HUMAN	Y	308;40;308;308	ENSP00000338629:D308Y;ENSP00000366684:D40Y;ENSP00000383699:D308Y;ENSP00000383700:D308Y	ENSP00000338629:D308Y	D	-	1	0	RERE	8480134	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.863000	0.69568	2.765000	0.95021	0.655000	0.94253	GAT	.		0.448	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8557547	C	A	8557547	3	1	9	1	0	0	0	0	1	0	0	0	13276	826	29	3	3838	3	RERE	1	8557547	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2026661	8557547	240693074	2	1589											
ANGPTL7	10218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11249964	11249964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagatgaacaaccaaattGacatcatgcagctgcaggca	9	11	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:11249964G>T	ENST00000376819.3	+	1	567	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	110					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CAACCAAATTGACATCATGCA	0.577																																					p.D110Y		.											.	ANGPTL7-90	0			c.G328T						.						87	80	83					1																	11249964		2203	4300	6503	SO:0001583	missense	10218	exon1			CAAATTGACATCA	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.328G>T	1.37:g.11249964G>T	ENSP00000366015:p.Asp110Tyr	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	96	36	NM_021146	0	0	0	0	0	B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705524	0.68615	.	.	ENSG00000171819	ENST00000376819	T	0.56275	0.47	5.21	5.21	0.72293	.	0.114107	0.64402	D	0.000020	T	0.51822	0.1697	N	0.24115	0.695	0.80722	D	1	P	0.44195	0.828	P	0.48901	0.594	T	0.56335	-0.7996	10	0.62326	D	0.03	.	19.1543	0.93504	0.0:0.0:1.0:0.0	.	110	O43827	ANGL7_HUMAN	Y	110	ENSP00000366015:D110Y	ENSP00000366015:D110Y	D	+	1	0	ANGPTL7	11172551	1.000000	0.71417	0.946000	0.38457	0.925000	0.55904	9.378000	0.97191	2.593000	0.87608	0.655000	0.94253	GAC	.		0.577	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		T	11249964	G	T	11249964	3	4	9	1	0	0	0	0	1	0	0	0	619	1290	45	3	330	3	ANGPTL7	1	11249964	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2692417	11249964	238000657	3	1590											
KAZ	23254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	15390118	15390118	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacaaccctattgtacaGgtaggtgtgccctccctggc	10	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:15390118G>T	ENST00000376030.2	+	7	1392	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	KAZN_ENST00000361144.5_Splice_Site_p.Q360H|KAZN_ENST00000503743.1_Splice_Site_p.Q366H|KAZN_ENST00000400797.3_Splice_Site_p.Q272H|KAZN_ENST00000422387.2_Splice_Site_p.Q366H|KAZN_ENST00000400798.2_Splice_Site_p.Q272H	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	366					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTATTGTACAGGTAGGTGTGC	0.577																																					p.Q366H		.											.	KAZN-91	0			c.G1098T						.						119	94	102					1																	15390118		2203	4300	6503	SO:0001630	splice_region_variant	23254	exon7			TGTACAGGTAGGT	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1098+1G>T	1.37:g.15390118G>T		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	87	35	NM_015209	0	0	0	0	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353047	0.41700	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T	0.18657	2.2	4.46	3.54	0.40534	.	.	.	.	.	T	0.29945	0.0749	L	0.27053	0.805	0.39774	D	0.972204	P;D;D	0.60575	0.914;0.988;0.98	P;D;D	0.72338	0.763;0.977;0.948	T	0.06267	-1.0836	9	0.62326	D	0.03	-23.5473	10.1626	0.42860	0.0945:0.0:0.9055:0.0	.	366;360;366	Q674X7-2;Q674X7-3;Q674X7	.;.;KAZRN_HUMAN	H	366;366;366;360;272;272	ENSP00000365198:Q366H	ENSP00000354727:Q360H	Q	+	3	2	KAZN	15262705	1.000000	0.71417	0.991000	0.47740	0.813000	0.45954	5.826000	0.69293	0.868000	0.35678	0.491000	0.48974	CAG	.		0.577	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	Missense_Mutation	T	15390118	G	T	15390118	5	4	9	1	0	0	0	0	0	0	1	0	8015	1014	35	3	1336	3	KAZ	1	15390118	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4140154	15390118	233860503	4	1591											
IFI6	2537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	27995817	27995817	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaaaagcgataccgccttCtgccgcatggtggcgccgcg	13	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:27995817C>A	ENST00000361157.6	-	2	136	c.9G>T	c.(7-9)caG>caT	p.Q3H	RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000339145.4_Missense_Mutation_p.Q3H|IFI6_ENST00000362020.4_Missense_Mutation_p.Q3H	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	3					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATACCGCCTTCTGCCGCATGG	0.607											OREG0013292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q3H		.											.	IFI6-91	0			c.G9T						.						83	65	71					1																	27995817		2140	4181	6321	SO:0001583	missense	2537	exon2			CGCCTTCTGCCGC	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.9G>T	1.37:g.27995817C>A	ENSP00000354736:p.Gln3His	Somatic	70	0	798	WXS	Illumina GAIIx	Phase_I	96	13	NM_002038	0	0	204	260	56	Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867633	0.72065	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.35048	1.42;1.34;1.33	4.48	3.56	0.40772	.	0.168304	0.28072	N	0.016719	T	0.44414	0.1292	L	0.34521	1.04	0.23070	N	0.99835	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.97;0.97;0.987	T	0.15521	-1.0434	10	0.87932	D	0	.	8.2379	0.31638	0.0:0.8907:0.0:0.1093	.	3;3;3	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	H	3	ENSP00000354736:Q3H;ENSP00000342513:Q3H;ENSP00000355152:Q3H	ENSP00000342513:Q3H	Q	-	3	2	IFI6	27868404	0.923000	0.31300	1.000000	0.80357	0.995000	0.86356	0.951000	0.29135	1.221000	0.43506	0.563000	0.77884	CAG	.		0.607	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		A	27995817	C	A	27995817	3	1	9	1	0	0	0	0	1	0	0	0	7546	912	32	3	423	3	IFI6	1	27995817	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	12605699	27995817	221254804	5	1592											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	9	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1143158	29138975	220111646	6	1593											
NCDN	23154	broad.mit.edu;bcgsc.ca	37	chr1	36026523	36026523	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaccgtgccccctgaatgCtaccgggatctgcaggccgg	12	15	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:36026523C>A	ENST00000373243.2	+	3	1154	c.771C>A	c.(769-771)tgC>tgA	p.C257*	NCDN_ENST00000356090.4_Nonsense_Mutation_p.C257*|NCDN_ENST00000373253.3_Nonsense_Mutation_p.C240*	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	257					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCTGAATGCTACCGGGATC	0.632																																					p.C257X		.											.	NCDN-155	0			c.C771A						.						60	57	58					1																	36026523		2201	4298	6499	SO:0001587	stop_gained	23154	exon3			TGAATGCTACCGG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.771C>A	1.37:g.36026523C>A	ENSP00000362340:p.Cys257*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	69	5	NM_014284	0	0	12	12	0	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Nonsense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941000	0.92526	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	.	.	.	4.76	3.83	0.44106	.	0.165628	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.1339	0.65273	0.0:0.8489:0.1511:0.0	.	.	.	.	X	240;257;257;240	.	ENSP00000348394:C257X	C	+	3	2	NCDN	35799110	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.152000	0.31663	1.209000	0.43321	-0.305000	0.09177	TGC	.		0.632	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		A	36026523	C	A	36026523	4	1	9	1	0	0	0	0	0	1	0	0	10253	805	28	3	781	3	NCDN	1	36026523	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6887548	36026523	213224098	7	1594											
FOXJ3	22887	broad.mit.edu;bcgsc.ca	37	chr1	42657323	42657323	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgctcactgtactgctGggagagtgctgataggtaca	14	7	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:42657323G>T	ENST00000372572.1	-	11	1313	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	FOXJ3_ENST00000545068.1_Silent_p.P334P|FOXJ3_ENST00000372573.1_Silent_p.P334P|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361776.1_Silent_p.P300P|FOXJ3_ENST00000361346.1_Silent_p.P334P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	334					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTACTGCTGGGAGAGTGCT	0.488																																					p.P334P		.											.	FOXJ3-228	0			c.C1002A						.						333	271	292					1																	42657323		2203	4300	6503	SO:0001819	synonymous_variant	22887	exon11			ACTGCTGGGAGAG	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1002C>A	1.37:g.42657323G>T		Somatic	242	0		WXS	Illumina GAIIx	Phase_I	202	8	NM_001198851	0	0	5	5	0	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	CCDS30689.1																																																																																			.		0.488	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		T	42657323	G	T	42657323	2	4	9	1	0	0	0	0	0	0	0	1	6037	1335	47	3		3	FOXJ3	1	42657323	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6630800	42657323	206593298	8	1595											
CCDC30	728621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	43055014	43055014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacttctatatcagaacgtaGatgagttacacaggcaagtg	9	7	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:43055014G>T	ENST00000340612.4	+	8	1243	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	CCDC30_ENST00000390640.4_Missense_Mutation_p.D204Y|CCDC30_ENST00000507855.1_Missense_Mutation_p.D204Y|CCDC30_ENST00000428554.2_Missense_Mutation_p.D415Y|CCDC30_ENST00000342022.4_Missense_Mutation_p.D415Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	415						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAGAACGTAGATGAGTTACA	0.368																																					p.D415Y		.											.	CCDC30-90	0			c.G1243T						.						85	84	84					1																	43055014		2203	4300	6503	SO:0001583	missense	728621	exon9			AACGTAGATGAGT	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1243G>T	1.37:g.43055014G>T	ENSP00000340378:p.Asp415Tyr	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	86	42	NM_001080850	0	0	6	7	1	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484822	0.26598	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.08	-0.518	0.11943	.	0.622081	0.17492	N	0.172301	T	0.30541	0.0768	N	0.08118	0	0.09310	N	0.999998	P;P;D	0.61080	0.924;0.867;0.989	P;P;P	0.52066	0.461;0.465;0.689	T	0.15752	-1.0426	10	0.72032	D	0.01	.	4.3171	0.10998	0.3983:0.1987:0.403:0.0	.	415;199;204	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	Y	415;204;415;415;204	ENSP00000397035:D415Y;ENSP00000426711:D204Y;ENSP00000340378:D415Y;ENSP00000339280:D415Y;ENSP00000375051:D204Y	ENSP00000340378:D415Y	D	+	1	0	CCDC30	42827601	0.355000	0.24921	0.271000	0.24616	0.150000	0.21749	0.401000	0.20948	0.264000	0.21851	-0.339000	0.08088	GAT	.		0.368	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		T	43055014	G	T	43055014	3	4	9	1	0	0	0	0	1	0	0	0	2812	942	33	3	1273	3	CCDC30	1	43055014	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	397691	43055014	206195607	9	1596											
DMAP1	55929	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	44685801	44685801	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaactgcgagtatgagctGcagatgctgcggcaccgtca	13	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:44685801G>T	ENST00000372289.2	+	9	1427	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	DMAP1_ENST00000361745.6_Silent_p.L388L|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.L388L	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	388					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)					AGTATGAGCTGCAGATGCTGC	0.652											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L388L		.											.	DMAP1-226	0			c.G1164T						.						24	24	24					1																	44685801		2203	4300	6503	SO:0001819	synonymous_variant	55929	exon10			TGAGCTGCAGATG	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.1164G>T	1.37:g.44685801G>T		Somatic	153	0	925	WXS	Illumina GAIIx	Phase_I	200	13	NM_001034024	0	0	76	80	4	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	CCDS509.1																																																																																			.		0.652	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		T	44685801	G	T	44685801	2	4	9	1	0	0	0	0	0	0	0	1	4590	1306	46	3		3	DMAP1	1	44685801	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1630787	44685801	204564820	10	1597											
MAST2	23139	broad.mit.edu	37	chr1	46493447	46493447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catcaagctcacggactttgGactgtccaaaattggcctca	8	12	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:46493447G>T	ENST00000361297.2	+	17	2247	c.1964G>T	c.(1963-1965)gGa>gTa	p.G655V	MAST2_ENST00000372009.2_Missense_Mutation_p.G585V	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.G655A(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACGGACTTTGGACTGTCCAAA	0.443																																					p.G655V		.											.	MAST2-581	1	Substitution - Missense(1)	breast(1)	c.G1964T						.						115	111	112					1																	46493447		1910	4149	6059	SO:0001583	missense	23139	exon17			ACTTTGGACTGTC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1964G>T	1.37:g.46493447G>T	ENSP00000354671:p.Gly655Val	Somatic	157	1		WXS	Illumina GAIIx	Phase_I	155	4	NM_015112	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907067	0.92107	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.80123	-1.34;-1.34;-1.34	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93458	0.7913	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.999	D	0.95038	0.8175	10	0.87932	D	0	-15.1567	19.5867	0.95492	0.0:0.0:1.0:0.0	.	585;329;585;655	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	V	655;585;329;540	ENSP00000354671:G655V;ENSP00000361079:G585V;ENSP00000361078:G540V	ENSP00000354671:G655V	G	+	2	0	MAST2	46266034	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.712000	0.92718	0.561000	0.74099	GGA	.		0.443	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46493447	G	T	46493447	3	4	9	1	0	0	0	0	1	0	0	0	9363	1174	41	3	2030	3	MAST2	1	46493447	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1807646	46493447	202757174	11	1598											
NSUN4	387338	bcgsc.ca	37	chr1	46810498	46810498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagagcccaaattccctgCtgttcgactggctttgcaga	9	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:46810498C>A	ENST00000474844.1	+	2	769	c.119C>A	c.(118-120)gCt>gAt	p.A40D	NSUN4_ENST00000536062.1_5'UTR|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_5'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	40					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)					AAATTCCCTGCTGTTCGACTG	0.493																																					p.A40D		.											.	NSUN4-90	0			c.C119A						.						140	142	142					1																	46810498		2203	4300	6503	SO:0001583	missense	387338	exon2			TCCCTGCTGTTCG	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.119C>A	1.37:g.46810498C>A	ENSP00000419740:p.Ala40Asp	Somatic	133	3		WXS	Illumina GAIIx	Phase_I	125	52	NM_199044	0	0	6	6	0	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329116	0.81690	.	.	ENSG00000117481	ENST00000474844	T	0.15017	2.46	5.45	5.45	0.79879	.	0.295743	0.38217	N	0.001774	T	0.21103	0.0508	M	0.64997	1.995	0.80722	D	1	P	0.39216	0.664	B	0.36885	0.235	T	0.01757	-1.1280	10	0.72032	D	0.01	-7.3945	14.5021	0.67729	0.0:0.8532:0.1468:0.0	.	40	Q96CB9	NSUN4_HUMAN	D	40	ENSP00000419740:A40D	ENSP00000419740:A40D	A	+	2	0	NSUN4	46583085	0.986000	0.35501	0.973000	0.42090	0.968000	0.65278	3.418000	0.52721	2.573000	0.86826	0.563000	0.77884	GCT	.		0.493	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		A	46810498	C	A	46810498	3	1	9	1	0	0	0	0	1	0	0	0	10719	797	28	3	125	3	NSUN4	1	46810498	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	317051	46810498	202440123	12	1599											
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	50659584	50659584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgaatcctggttgatcaaGtcacaggttaagtgtttctt	9	8	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:50659584G>T	ENST00000371823.4	+	4	726	c.502G>T	c.(502-504)Gtc>Ttc	p.V168F	ELAVL4_ENST00000371824.1_Missense_Mutation_p.V168F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V171F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V173F|ELAVL4_ENST00000371827.1_Missense_Mutation_p.V168F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.V173F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V185F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	168	RRM 2. {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)			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						GGTTGATCAAGTCACAGGTTA	0.443																																					p.V185F		.											.	ELAVL4-516	0			c.G553T						.						164	142	149					1																	50659584		2203	4300	6503	SO:0001583	missense	1996	exon4			GATCAAGTCACAG	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.502G>T	1.37:g.50659584G>T	ENSP00000360888:p.Val168Phe	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	170	68	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988649	0.53934	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	N	0.26130	0.795	0.80722	D	1	P;B;B;P;P;P;P	0.41041	0.62;0.048;0.032;0.736;0.566;0.566;0.62	B;B;B;P;B;B;B	0.46049	0.293;0.117;0.021;0.502;0.194;0.14;0.293	T	0.00400	-1.1763	10	0.62326	D	0.03	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	173;173;168;168;185;168;171	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	F	171;168;185;168;168;173;173	ENSP00000399939:V171F;ENSP00000360892:V168F;ENSP00000349594:V185F;ENSP00000360889:V168F;ENSP00000360888:V168F;ENSP00000360886:V173F;ENSP00000360884:V173F	ENSP00000349594:V185F	V	+	1	0	ELAVL4	50432171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.906000	0.99361	0.655000	0.94253	GTC	.		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50659584	G	T	50659584	3	4	9	1	0	0	0	0	1	0	0	0	5068	1029	36	3	615	3	ELAVL4	1	50659584	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3849086	50659584	198591037	13	1600											
ZFYVE9	9372	bcgsc.ca	37	chr1	52704417	52704417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacagtgtgttggattggCagatgcaggtctagatttaa	14	4	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:52704417C>A	ENST00000371591.1	+	3	1459	c.1328C>A	c.(1327-1329)gCa>gAa	p.A443E	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.A443E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.A443E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	443					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						GTTGGATTGGCAGATGCAGGT	0.383																																					p.A443E		.											.	ZFYVE9-230	0			c.C1328A						.						112	109	110					1																	52704417		2203	4299	6502	SO:0001583	missense	9372	exon4			GATTGGCAGATGC	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.1328C>A	1.37:g.52704417C>A	ENSP00000360647:p.Ala443Glu	Somatic	100	3		WXS	Illumina GAIIx	Phase_I	122	41	NM_007324	0	0	0	0	0	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	5.070	0.198552	0.09652	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54675	1.05;0.56;1.04;1.04	5.59	5.59	0.84812	.	0.432853	0.21039	N	0.081219	T	0.31918	0.0812	N	0.19112	0.55	0.23063	N	0.998353	B;B;P	0.49559	0.302;0.112;0.925	B;B;B	0.40940	0.054;0.024;0.344	T	0.16837	-1.0389	10	0.10636	T	0.68	.	8.3582	0.32342	0.1559:0.761:0.0:0.0831	.	443;443;443	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	E	443	ENSP00000349737:A443E;ENSP00000355358:A443E;ENSP00000287727:A443E;ENSP00000360647:A443E	ENSP00000287727:A443E	A	+	2	0	ZFYVE9	52477005	0.106000	0.21978	1.000000	0.80357	0.107000	0.19398	0.607000	0.24209	2.643000	0.89663	0.655000	0.94253	GCA	.		0.383	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		A	52704417	C	A	52704417	3	1	9	1	0	0	0	0	1	0	0	0	17719	710	25	3	1334	3	ZFYVE9	1	52704417	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2044833	52704417	196546204	14	1601											
CYP2J2	1573	broad.mit.edu;bcgsc.ca	37	chr1	60377418	60377418	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaactgcattgttgatcttGaaatgagggtcaaaaggctg	12	5	2	3	rs72547600		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:60377418G>T	ENST00000371204.3	-	4	589	c.546C>A	c.(544-546)ttC>ttA	p.F182L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	182					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TGTTGATCTTGAAATGAGGGT	0.448																																					p.F182L		.											.	CYP2J2-91	0			c.C546A						.						149	142	144					1																	60377418		2203	4300	6503	SO:0001583	missense	1573	exon4			GATCTTGAAATGA	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.546C>A	1.37:g.60377418G>T	ENSP00000360247:p.Phe182Leu	Somatic	263	0		WXS	Illumina GAIIx	Phase_I	208	9	NM_000775	0	0	1	1	0	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409884	0.25465	.	.	ENSG00000134716	ENST00000371204	T	0.68903	-0.36	5.49	-0.377	0.12501	.	0.504996	0.23165	N	0.051199	T	0.48660	0.1512	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.28964	-1.0027	10	0.33141	T	0.24	.	6.0198	0.19623	0.2815:0.3733:0.3452:0.0	.	182	P51589	CP2J2_HUMAN	L	182	ENSP00000360247:F182L	ENSP00000360247:F182L	F	-	3	2	CYP2J2	60150006	0.020000	0.18652	0.997000	0.53966	0.985000	0.73830	0.107000	0.15375	0.017000	0.15025	0.655000	0.94253	TTC	.		0.448	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		T	60377418	G	T	60377418	3	4	9	1	0	0	0	0	1	0	0	0	4181	1281	45	3	986	3	CYP2J2	1	60377418	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7673001	60377418	188873203	15	1602											
LEPR	3953	hgsc.bcm.edu;broad.mit.edu	37	chr1	66098847	66098847	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaacagagaacggacattCtttgaagtctaatcatgatc	7	8	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:66098847C>A	ENST00000371060.3	+	20	2871	c.2686C>A	c.(2686-2688)Ctt>Att	p.L896I	LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001003679.3|NM_001198689.1	NP_001003679.1|NP_001185618.1	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AACGGACATTCTTTGAAGTCT	0.303																																					p.L896I		.											.	LEPR-91	0			c.C2686A						.						51	50	51					1																	66098847		2203	4297	6500	SO:0001583	missense	3953	exon20			GACATTCTTTGAA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000371060.3:c.2686C>A	1.37:g.66098847C>A	ENSP00000360099:p.Leu896Ile	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	26	6	NM_001003679	0	0	0	0	0	Q6FHL5	Missense_Mutation	SNP	ENST00000371060.3	37	CCDS30740.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697041	0.68386	.	.	ENSG00000116678	ENST00000371060	T	0.56611	0.45	5.9	5.9	0.94986	.	.	.	.	.	T	0.71204	0.3312	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73962	-0.3817	8	0.87932	D	0	.	18.052	0.89353	0.0:1.0:0.0:0.0	.	896	P48357-2	.	I	896	ENSP00000360099:L896I	ENSP00000360099:L896I	L	+	1	0	LEPR	65871435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.054000	0.49908	2.788000	0.95919	0.650000	0.86243	CTT	.		0.303	LEPR-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025276.1	NM_002303		A	66098847	C	A	66098847	3	1	9	1	0	0	0	0	1	0	0	0	8756	913	32	3	2964	3	LEPR	1	66098847	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5721429	66098847	183151774	16	1603											
IL23R	149233	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67724387	67724387	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatataaaccccaaatttCaaattttctgcctgagggaa	7	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:67724387C>A	ENST00000347310.5	+	11	1637	c.1466C>A	c.(1465-1467)tCa>tAa	p.S489*	IL23R_ENST00000395227.1_Nonsense_Mutation_p.S234*|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	489					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|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 interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|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 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 tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCCAAATTTCAAATTTTCTG	0.398																																					p.S489X		.											.	IL23R-90	0			c.C1466A						.						64	66	65					1																	67724387		2203	4300	6503	SO:0001587	stop_gained	149233	exon11			AAATTTCAAATTT	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1466C>A	1.37:g.67724387C>A	ENSP00000321345:p.Ser489*	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	118	25	NM_144701	0	0	0	0	0	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Nonsense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.361604|2.361604	0.41801|0.41801	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000395227	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.26231|.	0.0640|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16808|.	-1.0390|.	4|.	.|0.02654	.|T	.|1	-29.9761|-29.9761	15.3632|15.3632	0.74499|0.74499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	251|489;234	.|.	.|ENSP00000321345:S489X	Q|S	+|+	1|2	0|0	IL23R|IL23R	67496975|67496975	0.986000|0.986000	0.35501|0.35501	0.915000|0.915000	0.36163|0.36163	0.046000|0.046000	0.14306|0.14306	2.872000|2.872000	0.48467|0.48467	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAA|TCA	.		0.398	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		A	67724387	C	A	67724387	4	1	9	1	0	0	0	0	0	1	0	0	7703	838	29	3	1504	3	IL23R	1	67724387	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1625540	67724387	181526234	17	1604											
NEXN	91624	broad.mit.edu	37	chr1	78401561	78401561	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agagaatatgaagaactgatCaaattaaaaaggagtggctc	10	4	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:78401561C>A	ENST00000334785.7	+	11	1489	c.1305C>A	c.(1303-1305)atC>atA	p.I435I	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Silent_p.I371I|NEXN_ENST00000457030.1_Silent_p.I421I	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAGAACTGATCAAATTAAAAA	0.308																																					p.I435I		.											.	NEXN-92	0			c.C1305A						.						47	47	47					1																	78401561		1795	4059	5854	SO:0001819	synonymous_variant	91624	exon11			ACTGATCAAATTA	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1305C>A	1.37:g.78401561C>A		Somatic	125	2		WXS	Illumina GAIIx	Phase_I	126	9	NM_144573	0	0	0	0	0		Silent	SNP	ENST00000334785.7	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638179	0.14386	.	.	ENSG00000162614	ENST00000342754	.	.	.	5.86	-5.13	0.02884	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4789	1.8561	0.03179	0.4093:0.2204:0.0759:0.2945	.	.	.	.	X	335	.	.	S	+	2	0	NEXN	78174149	0.002000	0.14202	0.976000	0.42696	0.917000	0.54804	-1.457000	0.02374	-0.508000	0.06540	-0.142000	0.14014	TCA	.		0.308	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		A	78401561	C	A	78401561	2	1	9	1	0	0	0	0	0	0	0	1	10394	816	29	3		3	NEXN	1	78401561	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10677174	78401561	170849060	18	1605											
LPHN2	23266	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	82409449	82409449	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggtccacctgatcctgcCcaaggtaagcgtgtttactt	9	11	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:82409449C>A	ENST00000370728.1	+	8	1839	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A	LPHN2_ENST00000370721.1_Silent_p.A402A|LPHN2_ENST00000370723.1_Silent_p.A398A|LPHN2_ENST00000370715.1_Silent_p.A398A|LPHN2_ENST00000370725.1_Silent_p.A398A|LPHN2_ENST00000271029.4_Silent_p.A398A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.A398A|LPHN2_ENST00000370713.1_Silent_p.A398A|LPHN2_ENST00000370717.2_Silent_p.A398A|LPHN2_ENST00000370730.1_Silent_p.A398A|LPHN2_ENST00000319517.6_Silent_p.A398A|LPHN2_ENST00000370727.1_Silent_p.A398A|LPHN2_ENST00000359929.3_Silent_p.A398A|LPHN2_ENST00000394879.1_Silent_p.A398A			O95490	LPHN2_HUMAN	latrophilin 2	398					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGATCCTGCCCAAGGTAAGC	0.353																																					p.A398A		.											.	LPHN2-525	0			c.C1194A						.						81	76	77					1																	82409449		2201	4298	6499	SO:0001819	synonymous_variant	23266	exon5			TCCTGCCCAAGGT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1194C>A	1.37:g.82409449C>A		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	124	25	NM_012302	0	0	0	0	0	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	10.38	1.334915	0.24253	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.62853	0.2462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61903	-0.6967	4	.	.	.	.	13.9861	0.64337	0.0:0.9278:0.0:0.0722	.	.	.	.	H	266	.	.	P	+	2	0	LPHN2	82182037	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.642000	0.37207	2.658000	0.90341	0.650000	0.86243	CCC	.		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		A	82409449	C	A	82409449	2	1	9	1	0	0	0	0	0	0	0	1	8951	610	22	3		3	LPHN2	1	82409449	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4007888	82409449	166841172	19	1606											
WDR63	126820	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	85592293	85592293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacatcggccgagaagatGgatacattgatatctgggac	11	8	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:85592293G>A	ENST00000294664.6	+	20	2392	c.2212G>A	c.(2212-2214)Gga>Aga	p.G738R	WDR63_ENST00000326813.8_Missense_Mutation_p.G699R|WDR63_ENST00000370596.1_Missense_Mutation_p.G699R	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	738										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCGAGAAGATGGATACATTGA	0.498																																					p.G738R		.											.	WDR63-95	0			c.G2212A						.						72	70	71					1																	85592293		2203	4300	6503	SO:0001583	missense	126820	exon20			GAAGATGGATACA		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2212G>A	1.37:g.85592293G>A	ENSP00000294664:p.Gly738Arg	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	111	7	NM_145172	0	0	4	4	0	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597622	0.87055	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.71934	-0.61;-0.61;-0.61;0.88	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85864	0.5796	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88689	0.3207	10	0.87932	D	0	-28.3945	18.7189	0.91686	0.0:0.0:1.0:0.0	.	699;738	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	R	699;699;738;20	ENSP00000359628:G699R;ENSP00000317463:G699R;ENSP00000294664:G738R;ENSP00000435544:G20R	ENSP00000294664:G738R	G	+	1	0	WDR63	85364881	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	8.701000	0.91331	2.496000	0.84212	0.557000	0.71058	GGA	.		0.498	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85592293	G	A	85592293	3	1	9	1	0	0	0	0	1	0	0	0	17363	1349	47	3	2286	3	WDR63	1	85592293	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3182844	85592293	163658328	20	1607											
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	92187701	92187701	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccaatactgttaggagCctgaagatatagcaaaaaaa	8	6	0	2	rs140100898	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:92187701C>A	ENST00000525962.1	-	7	947	c.886G>T	c.(886-888)Gct>Tct	p.A296S	TGFBR3_ENST00000370399.2_Splice_Site_p.A296S|TGFBR3_ENST00000212355.4_Splice_Site_p.A296S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	296					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTGTTAGGAGCCTGAAGATAT	0.299													C|||	5	0.000998403	0.0038	0	5008	,	,		17365	0		0	False		,,,				2504	0				p.A296S		.											.	TGFBR3-93	0			c.G886T						.	C	SER/ALA,SER/ALA,SER/ALA	18,4388	25.3+/-52.1	0,18,2185	76	72	73		886,886,886	4.3	1	1	dbSNP_134	73	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	99,99,99	0,18,6485	AA,AC,CC		0.0,0.4085,0.1384	possibly-damaging,possibly-damaging,possibly-damaging	296/851,296/851,296/852	92187701	18,12988	2203	4300	6503	SO:0001630	splice_region_variant	7049	exon8			TAGGAGCCTGAAG	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.886-1G>T	1.37:g.92187701C>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	57	8	NM_001195683	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140559	0.37825	0.004085	0.0	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.22	4.29	0.51040	.	0.099468	0.64402	N	0.000002	T	0.17831	0.0428	L	0.49350	1.555	0.48762	D	0.999706	B;B;B	0.26672	0.094;0.076;0.156	B;B;B	0.25884	0.064;0.043;0.064	T	0.08166	-1.0735	10	0.66056	D	0.02	-12.4334	9.328	0.38005	0.1457:0.7733:0.0:0.081	.	296;296;296	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	S	296	ENSP00000212355:A296S;ENSP00000359426:A296S;ENSP00000436127:A296S;ENSP00000432638:A296S	ENSP00000212355:A296S	A	-	1	0	TGFBR3	91960289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.758000	0.38410	1.322000	0.45245	0.462000	0.41574	GCT	C|0.999;A|0.001		0.299	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Missense_Mutation	A	92187701	C	A	92187701	5	1	9	1	0	0	0	0	0	0	1	0	15870	753	26	3	1709	3	TGFBR3	1	92187701	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6595408	92187701	157062920	21	1608											
SLC44A3	126969	broad.mit.edu;bcgsc.ca	37	chr1	95310885	95310885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagaataaaattgacaGttgagcttttccaaatcaca	7	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:95310885G>T	ENST00000271227.6	+	9	1039	c.937G>T	c.(937-939)Gtt>Ttt	p.V313F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.V233F|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000529450.1_Missense_Mutation_p.V281F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.V245F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.V277F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.V265F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	313					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAAATTGACAGTTGAGCTTTT	0.423																																					p.V313F		.											.	SLC44A3-91	0			c.G937T						.						109	114	112					1																	95310885		2203	4300	6503	SO:0001583	missense	126969	exon9			TTGACAGTTGAGC	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.937G>T	1.37:g.95310885G>T	ENSP00000271227:p.Val313Phe	Somatic	61	2		WXS	Illumina GAIIx	Phase_I	55	29	NM_001114106	0	0	1	4	3	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116291	0.37339	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.68	0.647	0.17796	.	0.511725	0.17701	N	0.164940	T	0.28532	0.0706	M	0.77486	2.375	0.09310	N	0.999999	P;P;P;P;P	0.52577	0.901;0.908;0.901;0.901;0.954	P;P;P;P;P	0.59056	0.776;0.851;0.813;0.776;0.828	T	0.08617	-1.0713	10	0.87932	D	0	-3.9266	9.5755	0.39454	0.5015:0.0:0.4985:0.0	.	233;277;245;281;313	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	F	277;313;245;281;265;233	ENSP00000389143:V277F;ENSP00000271227:V313F;ENSP00000433641:V245F;ENSP00000431836:V281F;ENSP00000432789:V265F;ENSP00000436661:V233F	ENSP00000271227:V313F	V	+	1	0	SLC44A3	95083473	0.437000	0.25593	0.001000	0.08648	0.340000	0.28889	0.763000	0.26517	0.073000	0.16731	-0.145000	0.13849	GTT	.		0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		T	95310885	G	T	95310885	3	4	9	1	0	0	0	0	1	0	0	0	14682	1029	36	3	971	3	SLC44A3	1	95310885	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3123184	95310885	153939736	22	1609											
AHCYL1	10768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110561730	110561730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgttctgtccatcacaGccacaacacaggtatgtggc	8	13	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:110561730G>T	ENST00000369799.5	+	14	1742	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	AHCYL1_ENST00000393614.4_Missense_Mutation_p.A412S|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A412S	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	459					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)		GTCCATCACAGCCACAACACA	0.498																																					p.A459S		.											.	AHCYL1-91	0			c.G1375T						.						116	102	107					1																	110561730		2203	4300	6503	SO:0001583	missense	10768	exon14			ATCACAGCCACAA	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.1375G>T	1.37:g.110561730G>T	ENSP00000358814:p.Ala459Ser	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	57	18	NM_006621	0	0	0	0	0	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671279	0.67814	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.76709	-1.04;-1.04;-1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.31664	0.95	0.80722	D	1	B	0.19200	0.034	B	0.36719	0.231	T	0.65199	-0.6226	10	0.49607	T	0.09	-21.4927	20.3931	0.98965	0.0:0.0:1.0:0.0	.	459	O43865	SAHH2_HUMAN	S	459;412;412	ENSP00000358814:A459S;ENSP00000352092:A412S;ENSP00000377238:A412S	ENSP00000352092:A412S	A	+	1	0	AHCYL1	110363253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCC	.		0.498	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			T	110561730	G	T	110561730	3	4	9	1	0	0	0	0	1	0	0	0	410	971	34	3	1429	3	AHCYL1	1	110561730	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	15250845	110561730	138688891	23	1610											
CHIA	27159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	111862838	111862838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgctgtatgtttcaggttGcacggctccagctcagccca	10	13	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:111862838G>T	ENST00000369740.1	+	12	1284	c.1181G>T	c.(1180-1182)tGc>tTc	p.C394F	CHIA_ENST00000343320.6_Missense_Mutation_p.C394F|CHIA_ENST00000451398.2_Missense_Mutation_p.C233F|CHIA_ENST00000483391.1_Missense_Mutation_p.C233F|CHIA_ENST00000430615.1_Missense_Mutation_p.C286F|CHIA_ENST00000353665.6_Missense_Mutation_p.C233F|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	394					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)		GTTTCAGGTTGCACGGCTCCA	0.582																																					p.C394F		.											.	CHIA-91	0			c.G1181T						.						66	67	66					1																	111862838		2203	4300	6503	SO:0001583	missense	27159	exon12			CAGGTTGCACGGC	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.1181G>T	1.37:g.111862838G>T	ENSP00000358755:p.Cys394Phe	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	80	9	NM_201653	0	0	0	0	0	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180530	0.21787	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05258	4.18;3.84;3.47;3.47;3.84;3.84;3.69;4.03	5.07	5.07	0.68467	.	0.082267	0.47852	U	0.000201	T	0.03305	0.0096	L	0.39147	1.195	0.43421	D	0.995578	B	0.25667	0.131	B	0.25759	0.063	T	0.42258	-0.9462	10	0.32370	T	0.25	-23.9167	15.9825	0.80121	0.0:0.0:1.0:0.0	.	394	Q9BZP6	CHIA_HUMAN	F	338;233;394;394;233;233;233;286	ENSP00000387671:C338F;ENSP00000436946:C233F;ENSP00000358755:C394F;ENSP00000341828:C394F;ENSP00000390476:C233F;ENSP00000338970:C233F;ENSP00000433309:C233F;ENSP00000391132:C286F	ENSP00000341828:C394F	C	+	2	0	CHIA	111664361	1.000000	0.71417	0.990000	0.47175	0.124000	0.20399	4.454000	0.60068	2.628000	0.89032	0.655000	0.94253	TGC	.		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			T	111862838	G	T	111862838	3	4	9	1	0	0	0	0	1	0	0	0	3349	1319	46	3	1223	3	CHIA	1	111862838	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1301108	111862838	137387783	24	1611											
KCND3	3752	broad.mit.edu	37	chr1	112525124	112525126	+	In_Frame_Del	DEL	GAA	GAA	-													tactccttggtgtcctcgttGaagaagaactccttctccgt							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:112525124_112525126delGAA	ENST00000315987.2	-	2	702_704	c.223_225delTTC	c.(223-225)ttcdel	p.F75del	KCND3_ENST00000302127.4_In_Frame_Del_p.F75del|KCND3_ENST00000369697.1_In_Frame_Del_p.F75del	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	75					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGTCCTCGTTGAAGAAGAACTCC	0.621																																					p.75_75del		.											.	KCND3-155	0			c.223_225del						.																																			SO:0001651	inframe_deletion	3752	exon2			CTCGTTGAAGAAG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.223_225delTTC	1.37:g.112525130_112525132delGAA	ENSP00000319591:p.Phe75del	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	199	7	NM_004980	0	0	0	0	0	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	In_Frame_Del	DEL	ENST00000315987.2	37	CCDS843.1																																																																																			.		0.621	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		-	112525126	GAA	-	112525124	7	5	9	1	0	1	0	1	0	0	0	0	8047	1281	45	0	1770	0	KCND3	1	112525124	In_Frame_Del	DEL	GAA	TCGA-OR-A5JA-01A-11D-A29I-10	662286	112525124	136725497	25	1612											
MAGI3	260425	broad.mit.edu;ucsc.edu	37	chr1	114225611	114225611	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacattttgcttccatatttGaagagtctcacgtgccagta	7	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:114225611G>T	ENST00000307546.9	+	21	3496	c.3421G>T	c.(3421-3423)Gaa>Taa	p.E1141*	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1166					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCATATTTGAAGAGTCTCA	0.353																																					p.E1141X		.											.	MAGI3-524	0			c.G3421T						.						66	62	64					1																	114225611		1568	3582	5150	SO:0001587	stop_gained	260425	exon21			ATATTTGAAGAGT	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3421G>T	1.37:g.114225611G>T	ENSP00000304604:p.Glu1141*	Somatic	120	2		WXS	Illumina GAIIx	Phase_I	109	19	NM_001142782	0	0	5	5	0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	40	8.026856	0.98616	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	.	.	.	5.54	5.54	0.83059	.	0.934475	0.09072	N	0.852738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.8351	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	1141;181	.	ENSP00000304604:E1141X	E	+	1	0	MAGI3	114027134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.722000	0.74735	2.763000	0.94921	0.557000	0.71058	GAA	.		0.353	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		T	114225611	G	T	114225611	4	4	9	1	0	0	0	0	0	1	0	0	9230	1291	45	3	3557	3	MAGI3	1	114225611	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1700487	114225611	135025010	26	1613											
SPAG17	200162	broad.mit.edu;bcgsc.ca	37	chr1	118539252	118539252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaccatagatttgctgatGattcttttcaaggtgcatag	8	7	3	3	rs150351466		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:118539252G>T	ENST00000336338.5	-	33	4956	c.4891C>A	c.(4891-4893)Cat>Aat	p.H1631N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1631						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGCTGATGATTCTTTTCA	0.313																																					p.H1631N		.											.	SPAG17-158	0			c.C4891A						.						98	98	98					1																	118539252		2203	4300	6503	SO:0001583	missense	200162	exon33			GCTGATGATTCTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4891C>A	1.37:g.118539252G>T	ENSP00000337804:p.His1631Asn	Somatic	113	1		WXS	Illumina GAIIx	Phase_I	85	6	NM_206996	0	0	0	0	0	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386280	0.25031	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17528	2.27	5.2	2.23	0.28157	.	0.930262	0.09292	N	0.822186	T	0.04182	0.0116	L	0.43152	1.355	0.26491	N	0.974949	P	0.35982	0.531	B	0.33042	0.157	T	0.43097	-0.9412	10	0.17832	T	0.49	.	6.6489	0.22951	0.3045:0.0:0.6955:0.0	.	1631	Q6Q759	SPG17_HUMAN	N	1631;111	ENSP00000337804:H1631N	ENSP00000337804:H1631N	H	-	1	0	SPAG17	118340775	0.255000	0.24002	0.966000	0.40874	0.989000	0.77384	0.267000	0.18552	0.307000	0.22880	0.655000	0.94253	CAT	G|1.000;A|0.000		0.313	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118539252	G	T	118539252	3	4	9	1	0	0	0	0	1	0	0	0	15026	1290	45	3	1844	3	SPAG17	1	118539252	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4313641	118539252	130711369	27	1614											
TBX15	6913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	119427957	119427957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccatgttgcttcgggCacatggtggataatcagaga	14	8	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:119427957C>A	ENST00000369429.3	-	8	1216	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	TBX15_ENST00000207157.3_Missense_Mutation_p.A297S			Q96SF7	TBX15_HUMAN	T-box 15	403					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGCTTCGGGCACATGGTGGA	0.537																																					p.A297S		.											.	TBX15-136	0			c.G889T						.						48	46	47					1																	119427957		2203	4300	6503	SO:0001583	missense	6913	exon8			TTCGGGCACATGG	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1207G>T	1.37:g.119427957C>A	ENSP00000358437:p.Ala403Ser	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	42	13	NM_152380	0	0	1	1	0	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	C	12.91	2.080437	0.36662	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.76448	-1.02;-1.02;-1.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.36672	1.1	0.80722	D	1	P;P	0.47677	0.899;0.584	B;B	0.38985	0.287;0.213	T	0.62277	-0.6888	10	0.07325	T	0.83	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	200;403	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	200;297;403;131;130	ENSP00000207157:A297S;ENSP00000358437:A403S;ENSP00000398625:A131S	ENSP00000207157:A297S	A	-	1	0	TBX15	119229480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.455000	0.66658	2.768000	0.95171	0.561000	0.74099	GCC	.		0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		A	119427957	C	A	119427957	3	1	9	1	0	0	0	0	1	0	0	0	15699	710	25	3	605	3	TBX15	1	119427957	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	888705	119427957	129822664	28	1615											
MRPL9	65005	bcgsc.ca	37	chr1	151735532	151735532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcttcgtgtcctccaccaGcttatagacgcgatgtcgcc	9	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:151735532G>T	ENST00000368830.3	-	2	328	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'Flank|RP11-98D18.2_ENST00000420382.1_RNA|MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.L82M|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|OAZ3_ENST00000453029.2_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	82					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTCCACCAGCTTATAGACG	0.667																																					p.L82M		.											.	MRPL9-91	0			c.C244A						.						64	67	66					1																	151735532		2203	4300	6503	SO:0001583	missense	65005	exon2			CCACCAGCTTATA	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.244C>A	1.37:g.151735532G>T	ENSP00000357823:p.Leu82Met	Somatic	156	2		WXS	Illumina GAIIx	Phase_I	192	73	NM_031420	0	0	20	25	5	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969836	0.74246	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.38401	1.14;1.18	4.84	2.91	0.33838	.	0.000000	0.64402	D	0.000007	T	0.39784	0.1091	M	0.63843	1.955	0.42913	D	0.994267	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.71184	0.972;0.972;0.945	T	0.37572	-0.9700	10	0.72032	D	0.01	-16.1404	6.9	0.24277	0.2166:0.0:0.7834:0.0	.	82;82;82	B4DDZ7;B4DUJ1;Q9BYD2	.;.;RM09_HUMAN	M	82	ENSP00000357823:L82M;ENSP00000357822:L82M	ENSP00000357822:L82M	L	-	1	2	MRPL9	150002156	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.308000	0.33528	1.239000	0.43787	0.655000	0.94253	CTG	.		0.667	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		T	151735532	G	T	151735532	3	4	9	1	0	0	0	0	1	0	0	0	9858	962	34	3	583	3	MRPL9	1	151735532	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	32307575	151735532	97515089	29	1616											
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	151787731	151787731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagcccaggggcagctGcccgtctgggagccccaagg	17	14	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:151787731G>T	ENST00000318247.6	-	5	576	c.469C>A	c.(469-471)Cag>Aag	p.Q157K	RORC_ENST00000392697.3_Missense_Mutation_p.Q211K|RORC_ENST00000356728.6_Missense_Mutation_p.Q136K|RORC_ENST00000480719.1_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	157	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGGCAGCTGCCCGTCTGGG	0.637																																					p.Q157K		.											.	RORC-227	0			c.C469A						.						31	31	31					1																	151787731		2203	4300	6503	SO:0001583	missense	6097	exon5			GCAGCTGCCCGTC	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.469C>A	1.37:g.151787731G>T	ENSP00000327025:p.Gln157Lys	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	49	9	NM_005060	0	0	1	2	1	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798138	0.31777	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94497	-3.4;-3.44;-3.42	4.91	4.91	0.64330	.	1.073890	0.07242	U	0.864332	D	0.91566	0.7336	L	0.57536	1.79	0.38524	D	0.948797	B;B;B;B	0.30439	0.055;0.083;0.279;0.279	B;B;B;B	0.35899	0.029;0.122;0.213;0.213	D	0.83863	0.0269	10	0.40728	T	0.16	.	13.4634	0.61239	0.0:0.0:1.0:0.0	.	157;211;157;136	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	136;211;157	ENSP00000349164:Q136K;ENSP00000376461:Q211K;ENSP00000327025:Q157K	ENSP00000327025:Q157K	Q	-	1	0	RORC	150054355	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	5.489000	0.66875	2.532000	0.85374	0.563000	0.77884	CAG	.		0.637	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			T	151787731	G	T	151787731	3	4	9	1	0	0	0	0	1	0	0	0	13575	1328	46	3	1115	3	RORC	1	151787731	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	52199	151787731	97462890	30	1617											
SPRR2A	6700	broad.mit.edu	37	chr1	153029123	153029123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggctcagggcacttcGggggtggacatggctctggg	20	9	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:153029123G>T	ENST00000392653.2	-	2	174	c.89C>A	c.(88-90)cCg>cAg	p.P30Q		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCACTTCGGGGGTGGACA	0.622																																					p.P30Q		.											.	SPRR2A-69	0			c.C89A						.						46	45	45					1																	153029123		2202	4277	6479	SO:0001583	missense	6700	exon2			CACTTCGGGGGTG	X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.89C>A	1.37:g.153029123G>T	ENSP00000376423:p.Pro30Gln	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_005988	0	0	61	61	0	B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111722	0.06881	.	.	ENSG00000241794	ENST00000392653	T	0.53640	0.61	2.11	0.0839	0.14435	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.08493	-1.0719	8	0.87932	D	0	.	3.2298	0.06745	0.1758:0.2816:0.5426:0.0	.	30	P35326	SPR2A_HUMAN	Q	30	ENSP00000376423:P30Q	ENSP00000376423:P30Q	P	-	2	0	SPRR2A	151295747	0.056000	0.20664	0.000000	0.03702	0.099000	0.18886	1.510000	0.35790	0.024000	0.15214	0.400000	0.26472	CCG	.		0.622	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988		T	153029123	G	T	153029123	3	4	9	1	0	0	0	0	1	0	0	0	15144	1116	39	2	133	2	SPRR2A	1	153029123	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1241392	153029123	96221498	31	1618											
IL6R	3570	broad.mit.edu;bcgsc.ca	37	chr1	154427044	154427044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggaacgctcctctgcattGccattgttctgaggtgagat	11	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:154427044G>T	ENST00000368485.3	+	9	1584	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	383					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCTCTGCATTGCCATTGTTCT	0.473																																					p.A383S		.											.	IL6R-229	0			c.G1147T						.						109	95	100					1																	154427044		2203	4300	6503	SO:0001583	missense	3570	exon9			TGCATTGCCATTG	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1147G>T	1.37:g.154427044G>T	ENSP00000357470:p.Ala383Ser	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	68	7	NM_000565	0	0	0	0	0	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.163|9.163	1.019179|1.019179	0.19355|0.19355	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485|ENST00000515190	T|.	0.23147|.	1.92|.	4.23|4.23	3.28|3.28	0.37604|0.37604	.|.	1.283680|.	0.05207|.	N|.	0.506074|.	T|T	0.17323|0.17323	0.0416|0.0416	L|L	0.34521|0.34521	1.04|1.04	0.18873|0.18873	N|N	0.999981|0.999981	P|.	0.38922|.	0.651|.	B|.	0.24974|.	0.057|.	T|T	0.16541|0.16541	-1.0399|-1.0399	10|5	0.20046|.	T|.	0.44|.	-14.3486|-14.3486	8.8027|8.8027	0.34918|0.34918	0.0:0.0:0.765:0.235|0.0:0.0:0.765:0.235	.|.	383|.	P08887|.	IL6RA_HUMAN|.	S|F	383|185	ENSP00000357470:A383S|.	ENSP00000357470:A383S|.	A|L	+|+	1|3	0|2	IL6R|IL6R	152693668|152693668	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.011000|0.011000	0.07611|0.07611	0.904000|0.904000	0.28491|0.28491	0.933000|0.933000	0.37291|0.37291	0.555000|0.555000	0.69702|0.69702	GCC|TTG	.		0.473	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		T	154427044	G	T	154427044	3	4	9	1	0	0	0	0	1	0	0	0	7729	1319	46	3	1181	3	IL6R	1	154427044	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1397921	154427044	94823577	32	1619											
KCNN3	3782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	154841756	154841756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagcagggtctggtgggCatggttgtcctcccgggagg	19	8	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:154841756C>A	ENST00000271915.4	-	1	1000	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	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	234					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)	GTCTGGTGGGCATGGTTGTCC	0.627																																					p.A229S		.											.	KCNN3-91	0			c.G685T						.						84	79	80					1																	154841756		2203	4300	6503	SO:0001583	missense	3782	exon1			GGTGGGCATGGTT	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.685G>T	1.37:g.154841756C>A	ENSP00000271915:p.Ala229Ser	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	87	14	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969815	0.18659	.	.	ENSG00000143603	ENST00000271915	D	0.94966	-3.57	4.88	2.86	0.33363	.	0.521782	0.16168	N	0.226448	T	0.73690	0.3619	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.002	T	0.67522	-0.5649	10	0.15952	T	0.53	-17.7855	5.3263	0.15908	0.2131:0.6833:0.0:0.1036	.	235;234	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	S	229	ENSP00000271915:A229S	ENSP00000271915:A229S	A	-	1	0	KCNN3	153108380	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.520000	0.22878	1.276000	0.44395	0.655000	0.94253	GCC	.		0.627	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		A	154841756	C	A	154841756	3	1	9	1	0	0	0	0	1	0	0	0	8107	710	25	3	1564	3	KCNN3	1	154841756	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	414712	154841756	94408865	33	1620											
YY1AP1	55249	broad.mit.edu;bcgsc.ca	37	chr1	155630075	155630075	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggataacaggggcaggtttGatacagcgaaaggccctggc	15	8	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:155630075G>T	ENST00000295566.4	-	11	1787	c.1764C>A	c.(1762-1764)atC>atA	p.I588I	YY1AP1_ENST00000359205.5_Silent_p.I531I|YY1AP1_ENST00000355499.4_Silent_p.I542I|YY1AP1_ENST00000368340.5_Silent_p.I660I|YY1AP1_ENST00000368330.2_Silent_p.I542I|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Silent_p.I531I|YY1AP1_ENST00000404643.1_Silent_p.I522I|YY1AP1_ENST00000368339.5_Silent_p.I680I|YY1AP1_ENST00000347088.5_Silent_p.I542I|YY1AP1_ENST00000535662.1_Silent_p.I388I|YY1AP1_ENST00000407221.1_Silent_p.I511I|YY1AP1_ENST00000311573.5_Silent_p.I511I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	588					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)					GGGCAGGTTTGATACAGCGAA	0.522																																					p.I680I		.											.	YY1AP1-93	0			c.C2040A						.						136	130	132					1																	155630075		2203	4300	6503	SO:0001819	synonymous_variant	55249	exon10			AGGTTTGATACAG	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.1764C>A	1.37:g.155630075G>T		Somatic	270	1		WXS	Illumina GAIIx	Phase_I	257	25	NM_001198903	0	0	27	32	5	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	CCDS1115.1																																																																																			.		0.522	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155630075	G	T	155630075	2	4	9	1	0	0	0	0	0	0	0	1	17557	1280	45	3		3	YY1AP1	1	155630075	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	788319	155630075	93620546	34	1621											
NTRK1	4914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	156841476	156841476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaccagtgacctcaacaGgaagaacgtgacgtgctggg	13	10	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:156841476G>T	ENST00000524377.1	+	7	820	c.779G>T	c.(778-780)aGg>aTg	p.R260M	NTRK1_ENST00000368196.3_Missense_Mutation_p.R260M|NTRK1_ENST00000358660.3_Missense_Mutation_p.R260M|NTRK1_ENST00000392302.2_Missense_Mutation_p.R230M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	260	Ig-like C2-type 1.		R -> G (in dbSNP:rs35116695). {ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GACCTCAACAGGAAGAACGTG	0.577			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																											p.R260M		.		Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	.	NTRK1-1393	0			c.G779T						.						94	80	85					1																	156841476		2203	4300	6503	SO:0001583	missense	4914	exon7			TCAACAGGAAGAA	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.779G>T	1.37:g.156841476G>T	ENSP00000431418:p.Arg260Met	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	161	21	NM_001012331	0	0	0	0	0	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672538	0.29693	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.37	1.29	0.21616	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.259903	0.27792	N	0.017827	T	0.06416	0.0165	L	0.29908	0.895	0.28810	N	0.898318	B;P;D;P	0.63046	0.345;0.723;0.992;0.599	B;B;P;B	0.49012	0.165;0.115;0.598;0.298	T	0.18335	-1.0340	10	0.56958	D	0.05	.	7.0025	0.24817	0.5339:0.0:0.4661:0.0	.	260;260;260;230	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	230;260;260;260	ENSP00000376120:R230M;ENSP00000357179:R260M;ENSP00000431418:R260M;ENSP00000351486:R260M	ENSP00000351486:R260M	R	+	2	0	NTRK1	155108100	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	1.557000	0.36299	0.163000	0.19507	-0.136000	0.14681	AGG	.		0.577	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156841476	G	T	156841476	3	4	9	1	0	0	0	0	1	0	0	0	10745	1000	35	3	935	3	NTRK1	1	156841476	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1211401	156841476	92409145	35	1622											
FCRL3	115352	broad.mit.edu;bcgsc.ca	37	chr1	157665960	157665960	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaacagggaacgctgggtCtttctacccaggcttcttac	10	13	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:157665960C>A	ENST00000368184.3	-	7	1293	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.K334N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	334	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACGCTGGGTCTTTCTACCCA	0.507																																					p.K334N		.											.	FCRL3-156	0			c.G1002T						.						130	117	122					1																	157665960		2203	4300	6503	SO:0001583	missense	115352	exon7			CTGGGTCTTTCTA	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1002G>T	1.37:g.157665960C>A	ENSP00000357167:p.Lys334Asn	Somatic	138	2		WXS	Illumina GAIIx	Phase_I	112	6	NM_052939	0	0	0	0	0	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968101	0.53614	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12984	2.63;2.63	5.35	0.975	0.19721	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15522	0.0374	M	0.72894	2.215	0.09310	N	1	P;D;P	0.55172	0.888;0.97;0.864	P;D;P	0.65987	0.649;0.94;0.461	T	0.06303	-1.0834	9	0.39692	T	0.17	.	7.5824	0.27972	0.0:0.5907:0.0:0.4093	.	334;239;334	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	N	334	ENSP00000357169:K334N;ENSP00000357167:K334N	ENSP00000292392:K334N	K	-	3	2	FCRL3	155932584	0.873000	0.30073	0.004000	0.12327	0.050000	0.14768	0.897000	0.28390	0.156000	0.19299	0.655000	0.94253	AAG	.		0.507	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		A	157665960	C	A	157665960	3	1	9	1	0	0	0	0	1	0	0	0	5818	912	32	3	1238	3	FCRL3	1	157665960	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	824484	157665960	91584661	36	1623											
LY9	4063	bcgsc.ca	37	chr1	160784476	160784476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaagatagaggacgccGgcccctaccatgcctacgtg	12	13	0	3	rs370415842		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:160784476G>A	ENST00000263285.6	+	4	1027	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	LY9_ENST00000368041.2_Missense_Mutation_p.G293S|LY9_ENST00000341032.4_Missense_Mutation_p.G333S|LY9_ENST00000392203.4_Missense_Mutation_p.G333S|LY9_ENST00000368037.5_Missense_Mutation_p.G333S|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	333	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAGGACGCCGGCCCCTACCA	0.572																																					p.G333S		.											.	LY9-91	0			c.G997A						.	G	SER/GLY	0,4406		0,0,2203	57	53	54		997	2.1	0.1	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	LY9	NM_002348.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	333/656	160784476	1,13005	2203	4300	6503	SO:0001583	missense	4063	exon4			GACGCCGGCCCCT	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.997G>A	1.37:g.160784476G>A	ENSP00000263285:p.Gly333Ser	Somatic	164	4		WXS	Illumina GAIIx	Phase_I	161	143	NM_001261457	0	0	0	0	0	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842763	0.51057	0.0	1.16E-4	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.11604	2.76;2.76	3.05	2.13	0.27403	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21427	0.0516	M	0.90082	3.085	0.24066	N	0.995999	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0;1.0	D;D;P;D;D;D	0.97110	0.999;0.999;0.666;0.999;1.0;0.999	T	0.04165	-1.0972	9	0.87932	D	0	-20.935	5.9351	0.19161	0.1436:0.0:0.8564:0.0	.	333;293;293;333;333;333	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	S	333;333;333;333;293;293;235	ENSP00000342921:G333S;ENSP00000263285:G333S	ENSP00000263285:G333S	G	+	1	0	LY9	159051100	0.838000	0.29461	0.072000	0.20136	0.013000	0.08279	2.419000	0.44671	0.838000	0.34948	0.563000	0.77884	GGC	.		0.572	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		A	160784476	G	A	160784476	3	1	9	1	0	0	0	0	1	0	0	0	9137	1116	39	1	1143	1	LY9	1	160784476	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3118516	160784476	88466145	37	1624											
FMO1	2326	ucsc.edu	37	chr1	171227313	171227313	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggactggagcccacCtgctttgagaggagcgatga	15	8	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:171227313C>A	ENST00000354841.4	+	1	218	c.87C>A	c.(85-87)acC>acA	p.T29T	FMO1_ENST00000402921.2_Silent_p.T29T|FMO1_ENST00000367750.3_Silent_p.T29T|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	29					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGAGCCCACCTGCTTTGAGA	0.557																																					p.T29T		.											.	FMO1-515	0			c.C87A						.						104	102	103					1																	171227313		2203	4300	6503	SO:0001819	synonymous_variant	2326	exon2			GCCCACCTGCTTT	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.87C>A	1.37:g.171227313C>A		Somatic	57	3		WXS	Illumina GAIIx	Phase_I	47	10	NM_002021	0	0	0	0	0	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	CCDS1294.1																																																																																			.		0.557	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		A	171227313	C	A	171227313	2	1	9	1	0	0	0	0	0	0	0	1	5976	668	24	3		3	FMO1	1	171227313	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10442837	171227313	78023308	38	1625											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	9	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	7823987	179051300	70199321	39	1626											
HMCN1	83872	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186050464	186050464	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggaattcctggcagaaaGatggacagcccttgctagaa	11	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186050464G>T	ENST00000271588.4	+	56	8954	c.8725G>T	c.(8725-8727)Gat>Tat	p.D2909Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2909Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2909	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGCAGAAAGATGGACAGCC	0.423																																					p.D2909Y		.											.	HMCN1-113	0			c.G8725T						.						136	132	133					1																	186050464		2203	4300	6503	SO:0001583	missense	83872	exon56			CAGAAAGATGGAC	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.8725G>T	1.37:g.186050464G>T	ENSP00000271588:p.Asp2909Tyr	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	77	24	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882534	0.91740	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.70045	-0.45;-0.45	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91804	0.5454	10	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	2909	Q96RW7	HMCN1_HUMAN	Y	2909	ENSP00000271588:D2909Y;ENSP00000356462:D2909Y	ENSP00000271588:D2909Y	D	+	1	0	HMCN1	184317087	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.532000	0.81985	2.778000	0.95560	0.655000	0.94253	GAT	.		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186050464	G	T	186050464	3	4	9	1	0	0	0	0	1	0	0	0	7247	942	33	3	8947	3	HMCN1	1	186050464	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6999164	186050464	63200157	40	1627											
TPR	7175	hgsc.bcm.edu;bcgsc.ca	37	chr1	186301382	186301382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaagaggcatttccactGtatcatcagagacttggtct	10	8	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186301382G>T	ENST00000367478.4	-	38	5845	c.5549C>A	c.(5548-5550)aCa>aAa	p.T1850K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1850	Sufficient and essential for mediating its nuclear import.				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)		CATTTCCACTGTATCATCAGA	0.428			T	NTRK1	papillary thyroid																																p.T1850K		.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR-228	0			c.C5549A						.						133	127	129					1																	186301382		1895	4114	6009	SO:0001583	missense	7175	exon38			TCCACTGTATCAT	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.5549C>A	1.37:g.186301382G>T	ENSP00000356448:p.Thr1850Lys	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_003292	0	0	12	12	0	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346820	0.61073	.	.	ENSG00000047410	ENST00000367478	T	0.23950	1.88	4.64	4.64	0.57946	.	0.175366	0.48767	D	0.000161	T	0.23532	0.0569	M	0.62723	1.935	0.41875	D	0.990294	P	0.48764	0.915	B	0.36922	0.236	T	0.07309	-1.0779	10	0.33141	T	0.24	.	12.0395	0.53444	0.0835:0.0:0.9165:0.0	.	1850	P12270	TPR_HUMAN	K	1850	ENSP00000356448:T1850K	ENSP00000356448:T1850K	T	-	2	0	TPR	184568005	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.819000	0.48049	2.111000	0.64477	0.563000	0.77884	ACA	.		0.428	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186301382	G	T	186301382	3	4	9	1	0	0	0	0	1	0	0	0	16464	1377	48	3	1598	3	TPR	1	186301382	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	250918	186301382	62949239	41	1628											
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	186909138	186909138	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatactactctgagcagtttGaaggaaaaagttaatactgc	8	6	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:186909138G>T	ENST00000367466.3	+	10	1097	c.945G>T	c.(943-945)ttG>ttT	p.L315F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.L255F	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	315	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGAGCAGTTTGAAGGAAAAAG	0.358																																					p.L315F		.											.	PLA2G4A-721	0			c.G945T						.						142	133	136					1																	186909138		2203	4300	6503	SO:0001583	missense	5321	exon10			CAGTTTGAAGGAA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.945G>T	1.37:g.186909138G>T	ENSP00000356436:p.Leu315Phe	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	70	7	NM_024420	0	0	2	2	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908382	0.33721	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.15139	2.45;2.45	5.67	4.76	0.60689	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.156955	0.52532	D	0.000073	T	0.12220	0.0297	N	0.16478	0.41	0.42300	D	0.992175	B;B	0.10296	0.003;0.002	B;B	0.20767	0.026;0.031	T	0.07271	-1.0781	10	0.38643	T	0.18	-15.6514	13.4609	0.61227	0.0751:0.0:0.9249:0.0	.	255;315	E7EU42;P47712	.;PA24A_HUMAN	F	315;255	ENSP00000356436:L315F;ENSP00000406892:L255F	ENSP00000356436:L315F	L	+	3	2	PLA2G4A	185175761	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.562000	0.53777	1.380000	0.46344	0.650000	0.86243	TTG	.		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		T	186909138	G	T	186909138	3	4	9	1	0	0	0	0	1	0	0	0	12040	1281	45	3	979	3	PLA2G4A	1	186909138	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	607756	186909138	62341483	42	1629											
CFHR4	3080	ucsc.edu;bcgsc.ca	37	chr1	196883674	196883674	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagagccaagagtaatggCatgcggtttaagctccatga	11	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:196883674C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Silent_p.G163G|CFHR4_ENST00000367416.2_Silent_p.G409G|CFHR4_ENST00000251424.4_Silent_p.G163G|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGAGTAATGGCATGCGGTTTA	0.393																																					p.G410G		.											.	CFHR4-93	0			c.C1230A						.						129	115	119					1																	196883674		1905	4136	6041	SO:0001627	intron_variant	10877	exon8			TAATGGCATGCGG	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34911C>A	1.37:g.196883674C>A		Somatic	492	6		WXS	Illumina GAIIx	Phase_I	344	45	NM_001201550	0	0	0	0	0	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																				.		0.393	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		A	196883674	C	A	196883674	1	1	9	0	1	0	0	0	0	0	0	0	3294	697	25	3		3	CFHR4	1	196883674	Intron	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9974536	196883674	52366947	43	1630											
CACNA1S	779	broad.mit.edu;bcgsc.ca	37	chr1	201058470	201058470	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgaagttgtcgaagtgggtGatgccatggttgggccctgg	17	8	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:201058470G>T	ENST00000362061.3	-	6	1042	c.816C>A	c.(814-816)atC>atA	p.I272I	CACNA1S_ENST00000367338.3_Silent_p.I272I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	272					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAAGTGGGTGATGCCATGGT	0.637																																					p.I272I		.											.	CACNA1S-94	0			c.C816A						.						91	74	80					1																	201058470		2203	4300	6503	SO:0001819	synonymous_variant	779	exon6			GTGGGTGATGCCA	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.816C>A	1.37:g.201058470G>T		Somatic	180	2		WXS	Illumina GAIIx	Phase_I	241	10	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																			.		0.637	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201058470	G	T	201058470	2	4	9	1	0	0	0	0	0	0	0	1	2554	1280	45	3		3	CACNA1S	1	201058470	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4174796	201058470	48192151	44	1631											
IGFN1	91156	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	201193916	201193916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttctgatccctgtggctgGactctcagacagtggtctct	11	12	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:201193916G>T	ENST00000335211.4	+	21	10530	c.10400G>T	c.(10399-10401)gGa>gTa	p.G3467V	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1010						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGTGGCTGGACTCTCAGAC	0.582																																					p.G3467V		.											.	IGFN1-71	0			c.G10400T						.						101	77	85					1																	201193916		2203	4300	6503	SO:0001583	missense	91156	exon21			TGGCTGGACTCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10400G>T	1.37:g.201193916G>T	ENSP00000334714:p.Gly3467Val	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	200	76	NM_001164586	0	0	0	0	0	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.358|6.358	0.434175|0.434175	0.12045|0.12045	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|.	0.66995|.	-0.24|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.376818|.	0.27764|.	N|.	0.017954|.	T|T	0.32041|0.32041	0.0816|0.0816	N|N	0.11154|0.11154	0.105|0.105	0.80722|0.80722	D|D	1|1	P|.	0.52170|.	0.951|.	P|.	0.52454|.	0.699|.	T|T	0.10132|0.10132	-1.0643|-1.0643	10|5	0.59425|.	D|.	0.04|.	.|.	5.8554|5.8554	0.18716|0.18716	0.1806:0.0:0.8194:0.0|0.1806:0.0:0.8194:0.0	.|.	3467|.	F8WAI1|.	.|.	V|C	3467|884	ENSP00000334714:G3467V|.	ENSP00000334714:G3467V|.	G|W	+|+	2|3	0|0	IGFN1|IGFN1	199460539|199460539	0.979000|0.979000	0.34478|0.34478	0.839000|0.839000	0.33178|0.33178	0.081000|0.081000	0.17604|0.17604	4.563000|4.563000	0.60823|0.60823	2.102000|2.102000	0.63906|0.63906	0.491000|0.491000	0.48974|0.48974	GGA|TGG	.		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201193916	G	T	201193916	3	4	9	1	0	0	0	0	1	0	0	0	7617	1174	41	3	10478	3	IGFN1	1	201193916	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	135446	201193916	48056705	45	1632											
TMEM183A	92703	bcgsc.ca	37	chr1	202985162	202985162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgcgctgtctccgggCttgtgtgatccgatctctgt	13	11	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:202985162C>A	ENST00000367242.3	+	5	682	c.602C>A	c.(601-603)gCt>gAt	p.A201D	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	201						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TGTCTCCGGGCTTGTGTGATC	0.507																																					p.A201D		.											.	TMEM183A-90	0			c.C602A						.						149	143	145					1																	202985162		2203	4300	6503	SO:0001583	missense	92703	exon5			TCCGGGCTTGTGT	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.602C>A	1.37:g.202985162C>A	ENSP00000356211:p.Ala201Asp	Somatic	108	3		WXS	Illumina GAIIx	Phase_I	87	42	NM_138391	0	0	19	31	12	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142606	0.94560	.	.	ENSG00000163444	ENST00000367242	T	0.28895	1.59	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.988;0.992;0.995	T	0.63033	-0.6727	10	0.87932	D	0	-7.6073	19.1413	0.93446	0.0:1.0:0.0:0.0	.	201;201;201;201	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	D	201	ENSP00000356211:A201D	ENSP00000356211:A201D	A	+	2	0	TMEM183A	201251785	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	5.788000	0.69020	2.679000	0.91253	0.655000	0.94253	GCT	.		0.507	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		A	202985162	C	A	202985162	3	1	9	1	0	0	0	0	1	0	0	0	16149	797	28	3	620	3	TMEM183A	1	202985162	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1791246	202985162	46265459	46	1633											
LRRN2	10446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	204588338	204588338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctaggaacttgagcccGggcacctgttccagtgcccg	13	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:204588338G>A	ENST00000367175.1	-	1	2995	c.783C>T	c.(781-783)ccC>ccT	p.P261P	LRRN2_ENST00000367176.3_Silent_p.P261P|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.P261P			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	261					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACTTGAGCCCGGGCACCTGTT	0.617																																					p.P261P		.											.	LRRN2-514	0			c.C783T						.						33	39	37					1																	204588338		2203	4300	6503	SO:0001819	synonymous_variant	10446	exon3			GAGCCCGGGCACC	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.783C>T	1.37:g.204588338G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	50	7	NM_006338	0	0	0	0	0	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	CCDS1448.1																																																																																			.		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		A	204588338	G	A	204588338	2	1	9	1	0	0	0	0	0	0	0	1	9070	1103	39	1		1	LRRN2	1	204588338	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1603176	204588338	44662283	47	1634											
DSTYK	25778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205156626	205156626	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgttctcttggacctccaGatcctcctcagggatggtct	9	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:205156626G>T	ENST00000367162.3	-	2	604	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	DSTYK_ENST00000367160.4_Missense_Mutation_p.L192M|DSTYK_ENST00000367161.3_Missense_Mutation_p.L192M	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	192					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						TGGACCTCCAGATCCTCCTCA	0.527																																					p.L192M		.											.	DSTYK-333	0			c.C574A						.						99	71	80					1																	205156626		2203	4300	6503	SO:0001583	missense	25778	exon2			CCTCCAGATCCTC	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.574C>A	1.37:g.205156626G>T	ENSP00000356130:p.Leu192Met	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	128	53	NM_199462	0	0	1	1	0	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619446	0.66787	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	D;D;D	0.85556	-1.75;-1.97;-2.0	5.39	2.51	0.30379	.	0.000000	0.64402	D	0.000001	D	0.87696	0.6242	L	0.55990	1.75	0.46376	D	0.99901	D;D	0.64830	0.994;0.989	D;P	0.64687	0.928;0.849	D	0.84838	0.0806	10	0.49607	T	0.09	-11.5059	8.8829	0.35384	0.3503:0.0:0.6497:0.0	.	192;192	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	M	192	ENSP00000356128:L192M;ENSP00000356129:L192M;ENSP00000356130:L192M	ENSP00000356128:L192M	L	-	1	2	DSTYK	203423249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.720000	0.38022	0.257000	0.21650	0.561000	0.74099	CTG	.		0.527	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		T	205156626	G	T	205156626	3	4	9	1	0	0	0	0	1	0	0	0	4799	933	33	3	2263	3	DSTYK	1	205156626	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	568288	205156626	44093995	48	1635											
ACBD3	64746	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	226347014	226347014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttgggctgcatactgctgGaactgcacggcagtctggga	15	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:226347014G>T	ENST00000366812.5	-	5	828	c.774C>A	c.(772-774)ttC>ttA	p.F258L	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	258	Gln-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)			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)		CATACTGCTGGAACTGCACGG	0.453																																					p.F258L		.											.	ACBD3-226	0			c.C774A						.						176	150	159					1																	226347014		2203	4300	6503	SO:0001583	missense	64746	exon5			CTGCTGGAACTGC	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.774C>A	1.37:g.226347014G>T	ENSP00000355777:p.Phe258Leu	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	153	23	NM_022735	0	0	6	9	3	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469841	0.96274	.	.	ENSG00000182827	ENST00000366812	T	0.19806	2.12	5.73	5.73	0.89815	.	0.047019	0.85682	D	0.000000	T	0.47911	0.1471	M	0.69823	2.125	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.33854	-0.9852	10	0.52906	T	0.07	-14.7394	19.8989	0.96978	0.0:0.0:1.0:0.0	.	258	Q9H3P7	GCP60_HUMAN	L	258	ENSP00000355777:F258L	ENSP00000355777:F258L	F	-	3	2	ACBD3	224413637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.706000	0.92434	0.555000	0.69702	TTC	.		0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		T	226347014	G	T	226347014	3	4	9	1	0	0	0	0	1	0	0	0	123	1165	41	3	828	3	ACBD3	1	226347014	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	21190388	226347014	22903607	49	1636											
DISC1	27185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	232144789	232144789	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgtgctggaggtgaacaGaaagaggtctgtccttttca	12	8	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:232144789G>T	ENST00000439617.2	+	11	2354	c.2301G>T	c.(2299-2301)caG>caT	p.Q767H	DISC1_ENST00000366637.3_Intron|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	767	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAGGTGAACAGAAAGAGGTCT	0.502																																					p.Q799H		.											.	DISC1-91	0			c.G2397T						.						68	64	65					1																	232144789		1877	4117	5994	SO:0001583	missense	27185	exon12			TGAACAGAAAGAG	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2301G>T	1.37:g.232144789G>T	ENSP00000403888:p.Gln767His	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	43	19	NM_001164537	0	0	0	0	0	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.004|8.004	0.756015|0.756015	0.15846|0.15846	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366638;ENST00000532576|ENST00000422590	T|.	0.08458|.	3.09|.	4.72|4.72	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.27524|0.27524	0.0676|0.0676	N|N	0.08118|0.08118	0|0	0.48830|0.48830	D|D	0.999715|0.999715	B;B;B;B;B|.	0.14805|.	0.002;0.011;0.011;0.004;0.011|.	B;B;B;B;B|.	0.15052|.	0.004;0.012;0.012;0.007;0.012|.	T|T	0.03433|0.03433	-1.1037|-1.1037	9|5	0.14656|.	T|.	0.56|.	-0.0162|-0.0162	4.8752|4.8752	0.13653|0.13653	0.1914:0.3404:0.4682:0.0|0.1914:0.3404:0.4682:0.0	.|.	799;645;767;645;767|.	C4P096;C4P094;C4P098;F5H1F1;Q9NRI5|.	.;.;.;.;DISC1_HUMAN|.	H|I	767;799;645|170	ENSP00000403888:Q767H|.	ENSP00000355598:Q799H|.	Q|R	+|+	3|2	2|0	DISC1|DISC1	230211412|230211412	0.983000|0.983000	0.35010|0.35010	0.042000|0.042000	0.18584|0.18584	0.481000|0.481000	0.33189|0.33189	0.756000|0.756000	0.26419|0.26419	-0.033000|-0.033000	0.13736|0.13736	0.650000|0.650000	0.86243|0.86243	CAG|AGA	.		0.502	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		T	232144789	G	T	232144789	3	4	9	1	0	0	0	0	1	0	0	0	4552	933	33	3	3079	3	DISC1	1	232144789	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5797775	232144789	17105832	50	1637											
C1orf57	84284	ucsc.edu	37	chr1	233105834	233105834	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggctcttgtagaagaaatCagaaacagaaaggatgtgaa	11	5	2	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:233105834C>G	ENST00000366628.5	+	4	561	c.474C>G	c.(472-474)atC>atG	p.I158M	NTPCR_ENST00000490098.1_3'UTR|NTPCR_ENST00000366627.4_Missense_Mutation_p.I158M	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	158						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						TAGAAGAAATCAGAAACAGAA	0.438																																					p.I158M		.											.	NTPCR-91	0			c.C474G						.						73	70	71					1																	233105834		2203	4300	6503	SO:0001583	missense	84284	exon4			AGAAATCAGAAAC	BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"human cancer-related NTPase"		"chromosome 1 open reading frame 57"	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.474C>G	1.37:g.233105834C>G	ENSP00000355587:p.Ile158Met	Somatic	189	4		WXS	Illumina GAIIx	Phase_I	181	24	NM_032324	0	0	37	40	3		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250242	0.39797	.	.	ENSG00000135778	ENST00000366628;ENST00000366627	T;T	0.54071	0.59;0.59	4.85	-7.92	0.01160	ATPase, AAA+ type, core (1);	0.103469	0.64402	D	0.000003	T	0.67757	0.2927	M	0.87269	2.87	0.32701	N	0.512814	P;D	0.67145	0.955;0.996	D;D	0.77557	0.967;0.99	T	0.74847	-0.3525	10	0.49607	T	0.09	-0.9045	13.6716	0.62430	0.1825:0.657:0.0:0.1606	.	158;158	Q9BSD7;Q5TDF0	NTPCR_HUMAN;.	M	158	ENSP00000355587:I158M;ENSP00000355586:I158M	ENSP00000355586:I158M	I	+	3	3	NTPCR	231172457	0.042000	0.20092	0.001000	0.08648	0.578000	0.36192	-0.646000	0.05403	-1.444000	0.01950	-0.262000	0.10625	ATC	.		0.438	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324		G	233105834	C	G	233105834	3	3	9	1	0	0	0	0	1	0	0	0	2056	816	29	3	488	3	C1orf57	1	233105834	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	961045	233105834	16144787	51	1638											
FH	2271	ucsc.edu	37	chr1	241667408	241667408	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagacctgaccgaggacCagaacccaaaaatcgaatat	7	13	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:241667408C>A	ENST00000366560.3	-	7	1080	c.1042G>T	c.(1042-1044)Ggt>Tgt	p.G348C		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	348					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GACCGAGGACCAGAACCCAAA	0.458			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												p.G348C	Melanoma(148;1573 2486 7381 46575)	.	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	.	FH-416	0			c.G1042T						.						111	89	96					1																	241667408		2203	4300	6503	SO:0001583	missense	2271	exon7	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	GAGGACCAGAACC	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1042G>T	1.37:g.241667408C>A	ENSP00000355518:p.Gly348Cys	Somatic	144	2		WXS	Illumina GAIIx	Phase_I	79	14	NM_000143	0	0	95	116	21	B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670707	0.88348	.	.	ENSG00000091483	ENST00000366560	D	0.99674	-6.36	5.73	5.73	0.89815	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96310	0.9228	10	0.87932	D	0	-15.1198	17.3941	0.87440	0.0:1.0:0.0:0.0	.	348	P07954	FUMH_HUMAN	C	348	ENSP00000355518:G348C	ENSP00000355518:G348C	G	-	1	0	FH	239734031	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.293000	0.78740	2.709000	0.92574	0.655000	0.94253	GGT	.		0.458	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		A	241667408	C	A	241667408	3	1	9	1	0	0	0	0	1	0	0	0	5897	594	21	3	506	3	FH	1	241667408	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8561574	241667408	7583213	52	1639											
EXO1	9156	broad.mit.edu	37	chr1	242042620	242042620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcaaagctttctcagtGctctagtaaggactctgatt	8	9	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr1:242042620G>T	ENST00000366548.3	+	13	2677	c.2084G>T	c.(2083-2085)tGc>tTc	p.C695F	EXO1_ENST00000348581.5_Missense_Mutation_p.C695F|EXO1_ENST00000518483.1_Missense_Mutation_p.C695F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	695	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.C695Y(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTTTCTCAGTGCTCTAGTAAG	0.393								Editing and processing nucleases																													p.C695F		.											.	EXO1-661	1	Substitution - Missense(1)	lung(1)	c.G2084T						.						38	41	40					1																	242042620		2188	4296	6484	SO:0001583	missense	9156	exon13			CTCAGTGCTCTAG	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2084G>T	1.37:g.242042620G>T	ENSP00000355506:p.Cys695Phe	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	28	6	NM_130398	0	0	2	4	2	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	3.964	-0.009659	0.07727	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32023	1.47;1.47;1.47	5.16	1.6	0.23607	.	0.777712	0.12289	N	0.482157	T	0.13030	0.0316	N	0.08118	0	0.22171	N	0.999318	B;B;B	0.17852	0.011;0.024;0.011	B;B;B	0.20767	0.01;0.031;0.01	T	0.20840	-1.0263	10	0.49607	T	0.09	-22.0011	0.8968	0.01265	0.2145:0.3783:0.2212:0.1861	.	694;695;695	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	F	695	ENSP00000355506:C695F;ENSP00000311873:C695F;ENSP00000430251:C695F	ENSP00000311873:C695F	C	+	2	0	EXO1	240109243	0.254000	0.23992	0.954000	0.39281	0.002000	0.02628	0.778000	0.26732	0.638000	0.30545	-0.153000	0.13522	TGC	.		0.393	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		T	242042620	G	T	242042620	3	4	9	1	0	0	0	0	1	0	0	0	5316	1319	46	3	2122	3	EXO1	1	242042620	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	375212	242042620	7208001	53	1640											
C2orf50	130813	bcgsc.ca	37	chr2	11284210	11284210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggcccggaagaagaaGctggaggaccagatgcagcc	17	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:11284210G>T	ENST00000381585.3	+	3	744	c.462G>T	c.(460-462)aaG>aaT	p.K154N	C2orf50_ENST00000405022.3_Missense_Mutation_p.K154N			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	154										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GGAAGAAGAAGCTGGAGGACC	0.617																																					p.K154N		.											.	C2orf50-90	0			c.G462T						.						40	40	40					2																	11284210		2203	4300	6503	SO:0001583	missense	130813	exon3			GAAGAAGCTGGAG	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.462G>T	2.37:g.11284210G>T	ENSP00000370997:p.Lys154Asn	Somatic	218	4		WXS	Illumina GAIIx	Phase_I	172	33	NM_182500	0	0	0	0	0	A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806803	0.50421	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	4.23	3.17	0.36434	.	0.175809	0.37955	N	0.001872	T	0.65709	0.2717	M	0.79475	2.455	0.46521	D	0.999083	D	0.61080	0.989	P	0.55824	0.785	T	0.68731	-0.5331	9	0.72032	D	0.01	-2.0486	5.9743	0.19369	0.2572:0.0:0.7428:0.0	.	154	Q96LR7	CB050_HUMAN	N	154	.	ENSP00000370997:K154N	K	+	3	2	C2orf50	11201661	1.000000	0.71417	0.998000	0.56505	0.553000	0.35397	2.903000	0.48711	1.917000	0.55516	0.561000	0.74099	AAG	.		0.617	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500		T	11284210	G	T	11284210	3	4	9	1	0	0	0	0	1	0	0	0	2179	962	34	3	472	3	C2orf50	2	11284210	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		11284210	231915163	54	1641											
AGBL5	60509	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27290394	27290394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggagacggcagcagCagcccctgaaccatcgtcct	12	14	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:27290394C>A	ENST00000360131.4	+	12	2281	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	708					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAGCAGCAGCCCCTGAA	0.587																																					p.Q708K		.											.	AGBL5-154	0			c.C2122A						.						94	89	91					2																	27290394		2203	4300	6503	SO:0001583	missense	60509	exon12			CAGCAGCAGCCCC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2122C>A	2.37:g.27290394C>A	ENSP00000353249:p.Gln708Lys	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	102	32	NM_021831	0	0	2	5	3	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971139	0.92919	.	.	ENSG00000084693	ENST00000360131;ENST00000441931	T	0.14516	2.5	6.07	6.07	0.98685	.	0.330547	0.30820	N	0.008815	T	0.29684	0.0741	L	0.36672	1.1	0.49687	D	0.999814	D	0.54964	0.969	D	0.64877	0.93	T	0.00162	-1.1971	10	0.66056	D	0.02	-13.3479	19.4308	0.94765	0.0:1.0:0.0:0.0	.	708	Q8NDL9	CBPC5_HUMAN	K	708;58	ENSP00000353249:Q708K	ENSP00000353249:Q708K	Q	+	1	0	AGBL5	27143898	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.756000	0.55205	2.885000	0.99019	0.655000	0.94253	CAG	.		0.587	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		A	27290394	C	A	27290394	3	1	9	1	0	0	0	0	1	0	0	0	378	711	25	3	2229	3	AGBL5	2	27290394	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	16006184	27290394	215908979	55	1642											
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu	37	chr2	36583544	36583544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacccgggcgctggtcTgcctgccctgtgacgagtcc	14	17	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:36583544T>G	ENST00000280527.2	+	1	476	c.109T>G	c.(109-111)Tgc>Ggc	p.C37G	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	37	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGCGCTGGTCTGCCTGCCCTG	0.731																																					p.C37G		.											.	CRIM1-118	0			c.T109G						.						14	19	17					2																	36583544		2198	4285	6483	SO:0001583	missense	51232	exon1			CTGGTCTGCCTGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.109T>G	2.37:g.36583544T>G	ENSP00000280527:p.Cys37Gly	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	53	8	NM_016441	0	0	1	1	0	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.073294	0.76415	.	.	ENSG00000150938	ENST00000280527	T	0.69806	-0.43	3.0	3.0	0.34707	Insulin-like growth factor-binding protein, IGFBP (2);	0.000000	0.85682	U	0.000000	T	0.81361	0.4806	M	0.87180	2.865	0.58432	D	0.999992	D	0.65815	0.995	D	0.70487	0.969	D	0.83617	0.0137	10	0.87932	D	0	-3.6025	10.6917	0.45875	0.0:0.0:0.0:1.0	.	37	Q9NZV1	CRIM1_HUMAN	G	37	ENSP00000280527:C37G	ENSP00000280527:C37G	C	+	1	0	CRIM1	36437048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.046000	0.71029	1.165000	0.42670	0.446000	0.29264	TGC	.		0.731	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		G	36583544	T	G	36583544	3	3	9	1	0	0	0	0	1	0	0	0	3880	1580	55	5	111	5	CRIM1	2	36583544	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	9293150	36583544	206615829	56	1643											
HEATR5B	54497	broad.mit.edu	37	chr2	37215999	37215999	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctggtaacatttggcttGaacctatataagaagaacat	8	6	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:37215999G>T	ENST00000233099.5	-	35	5796	c.5701C>A	c.(5701-5703)Caa>Aaa	p.Q1901K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q1812K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1901						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATTTGGCTTGAACCTATATA	0.343																																					p.Q1901K		.											.	HEATR5B-142	0			c.C5701A						.						70	75	74					2																	37215999		2203	4300	6503	SO:0001583	missense	54497	exon35			TGGCTTGAACCTA	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5701C>A	2.37:g.37215999G>T	ENSP00000233099:p.Gln1901Lys	Somatic	53	2		WXS	Illumina GAIIx	Phase_I	33	6	NM_019024	0	0	0	0	0	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530674	0.64860	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.64260	-0.09;-0.09	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.184337	0.47093	D	0.000248	T	0.52933	0.1765	L	0.43923	1.385	0.32372	N	0.555685	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.53012	-0.8498	10	0.02654	T	1	-12.2041	19.2784	0.94040	0.0:0.0:1.0:0.0	.	1901;1901	Q9P2D3;B9EK47	HTR5B_HUMAN;.	K	2;1901;1812	ENSP00000233099:Q1901K;ENSP00000346531:Q1812K	ENSP00000233099:Q1901K	Q	-	1	0	HEATR5B	37069503	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.495000	0.97964	2.630000	0.89119	0.491000	0.48974	CAA	.		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37215999	G	T	37215999	3	4	9	1	0	0	0	0	1	0	0	0	7059	1299	45	3	522	3	HEATR5B	2	37215999	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	632455	37215999	205983374	57	1644											
SLC8A1	6546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	40657111	40657111	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttgagatgtgatgacttCtatagaggacatgaaccgat	10	6	2	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:40657111C>A	ENST00000403092.1	-	2	343	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000406785.2_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.E104*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.E104*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	104					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTGATGACTTCTATAGAGGAC	0.398																																					p.E104X		.											.	SLC8A1-93	0			c.G310T						.						112	117	115					2																	40657111		2203	4300	6503	SO:0001587	stop_gained	6546	exon1			TGACTTCTATAGA		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.310G>T	2.37:g.40657111C>A	ENSP00000384763:p.Glu104*	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	60	32	NM_001252624	0	0	0	0	0	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333789	0.81801	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1057	0.86662	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000332931:E104X	E	-	1	0	SLC8A1	40510615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.663000	0.83820	2.648000	0.89879	0.563000	0.77884	GAA	.		0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40657111	C	A	40657111	4	1	9	1	0	0	0	0	0	1	0	0	14751	922	32	3	2759	3	SLC8A1	2	40657111	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3441112	40657111	202542262	58	1645											
ASPRV1	151516	ucsc.edu;bcgsc.ca	37	chr2	70188113	70188113	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacattctcaaagggctgCagggtgtccagatcgccatc	10	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:70188113C>A	ENST00000320256.4	-	1	1284	c.708G>T	c.(706-708)ctG>ctT	p.L236L	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAAAGGGCTGCAGGGTGTCCA	0.572																																					p.L236L		.											.	ASPRV1-69	0			c.G708T						.						82	78	79					2																	70188113		2203	4300	6503	SO:0001819	synonymous_variant	151516	exon1			GGGCTGCAGGGTG	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.708G>T	2.37:g.70188113C>A		Somatic	158	2		WXS	Illumina GAIIx	Phase_I	123	21	NM_152792	0	0	4	4	0		Silent	SNP	ENST00000320256.4	37	CCDS1897.1																																																																																			.		0.572	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		A	70188113	C	A	70188113	2	1	9	1	0	0	0	0	0	0	0	1	1059	697	25	3		3	ASPRV1	2	70188113	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	29531002	70188113	173011260	59	1646											
ANKRD53	79998	hgsc.bcm.edu	37	chr2	71206267	71206267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccacctcagtgcgcagGcgactgccctcgccaggccg	12	18	1	1	rs57527165	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:71206267G>A	ENST00000360589.3	+	2	245	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	ANKRD53_ENST00000272421.6_Missense_Mutation_p.A71T|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	71										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTGCGCAGGCGACTGCCCT	0.751													G|||	672	0.134185	0.208	0.2781	5008	,	,		10821	0.0516		0.0497	False		,,,				2504	0.1043				p.A71T		.											.	ANKRD53-90	0			c.G211A						.	G	THR/ALA,THR/ALA	738,3520		65,608,1456	14	17	16		211,211	-1.5	0	2	dbSNP_129	16	406,7904		12,382,3761	no	missense,missense	ANKRD53	NM_001115116.1,NM_024933.3	58,58	77,990,5217	AA,AG,GG		4.8857,17.3321,9.1025	possibly-damaging,possibly-damaging	71/531,71/344	71206267	1144,11424	2129	4155	6284	SO:0001583	missense	79998	exon2			GCGCAGGCGACTG	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.211G>A	2.37:g.71206267G>A	ENSP00000353796:p.Ala71Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001115116	0	0	0	0	0	Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	CCDS46321.1	259	0.11858974358974358	105	0.21341463414634146	89	0.24585635359116023	27	0.0472027972027972	38	0.05013192612137203	G	12.61	1.989396	0.35131	0.173321	0.048857	ENSG00000144031	ENST00000272421;ENST00000360589	T;T	0.64991	-0.13;-0.09	1.95	-1.51	0.08664	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;P	0.36354	0.414;0.549	B;B	0.35353	0.099;0.201	T	0.06041	-1.0849	8	0.46703	T	0.11	0.6536	5.2416	0.15475	0.0:0.3409:0.4939:0.1652	rs57527165	71;71	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	T	71	ENSP00000272421:A71T;ENSP00000353796:A71T	ENSP00000272421:A71T	A	+	1	0	ANKRD53	71059775	0.009000	0.17119	0.000000	0.03702	0.013000	0.08279	0.505000	0.22642	-0.454000	0.07066	0.561000	0.74099	GCG	G|0.893;A|0.107		0.751	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		A	71206267	G	A	71206267	3	1	9	1	0	0	0	0	1	0	0	0	679	1203	42	3	217	3	ANKRD53	2	71206267	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1018154	71206267	171993106	60	1647											
SNRNP200	23020	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	96948949	96948949	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgacttacctgagctgaaGagctgctccaccaggcgtcg	11	14	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:96948949G>T	ENST00000323853.5	-	34	4982	c.4905C>A	c.(4903-4905)ctC>ctA	p.L1635L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1635	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CTGAGCTGAAGAGCTGCTCCA	0.567																																					p.L1635L		.											.	SNRNP200-162	0			c.C4905A						.						95	84	88					2																	96948949		2203	4300	6503	SO:0001819	synonymous_variant	23020	exon34			GCTGAAGAGCTGC	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.4905C>A	2.37:g.96948949G>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	68	22	NM_014014	0	0	0	0	0	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																			.		0.567	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96948949	G	T	96948949	2	4	9	1	0	0	0	0	0	0	0	1	14897	929	33	3		3	SNRNP200	2	96948949	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	25742682	96948949	146250424	61	1648											
IL1RL1	9173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	102964457	102964457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtagtgtatttttaatGctaatcaatgtcctggttat	8	4	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:102964457G>T	ENST00000233954.1	+	9	1294	c.1023G>T	c.(1021-1023)atG>atT	p.M341I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	341					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TATTTTTAATGCTAATCAATG	0.333																																					p.M341I		.											.	IL1RL1-517	0			c.G1023T						.						131	125	127					2																	102964457		2203	4300	6503	SO:0001583	missense	9173	exon9			TTTAATGCTAATC	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1023G>T	2.37:g.102964457G>T	ENSP00000233954:p.Met341Ile	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	73	12	NM_016232	0	0	0	0	0	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	1.046	-0.677260	0.03378	.	.	ENSG00000115602	ENST00000233954	T	0.59638	0.25	5.53	-0.0869	0.13679	.	0.610365	0.17704	N	0.164820	T	0.35799	0.0944	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.26408	T	0.33	.	0.4107	0.00440	0.246:0.1729:0.3307:0.2504	.	341	Q01638	ILRL1_HUMAN	I	341	ENSP00000233954:M341I	ENSP00000233954:M341I	M	+	3	0	IL1RL1	102330889	0.001000	0.12720	0.007000	0.13788	0.002000	0.02628	-0.060000	0.11712	0.106000	0.17784	-1.031000	0.02408	ATG	.		0.333	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		T	102964457	G	T	102964457	3	4	9	1	0	0	0	0	1	0	0	0	7690	1319	46	3	1070	3	IL1RL1	2	102964457	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6015508	102964457	140234916	62	1649											
MRPS9	64965	broad.mit.edu	37	chr2	105654631	105654631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggggtagcctcgcccggaaGcaaggcctctggaaaaccgc	14	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:105654631G>T	ENST00000258455.3	+	1	191	c.81G>T	c.(79-81)aaG>aaT	p.K27N	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	27					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCGCCCGGAAGCAAGGCCTCT	0.622																																					p.K27N		.											.	MRPS9-90	0			c.G81T						.						31	30	30					2																	105654631		2203	4300	6503	SO:0001583	missense	64965	exon1			CCGGAAGCAAGGC		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.81G>T	2.37:g.105654631G>T	ENSP00000258455:p.Lys27Asn	Somatic	108	2		WXS	Illumina GAIIx	Phase_I	113	23	NM_182640	0	0	6	9	3	Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	9.774	1.173613	0.21704	.	.	ENSG00000135972	ENST00000258455	T	0.42900	0.96	4.82	-9.64	0.00541	.	1.538920	0.03113	N	0.162801	T	0.20659	0.0497	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13229	-1.0517	10	0.17832	T	0.49	-9.353	0.7541	0.00996	0.2603:0.3061:0.1264:0.3071	.	27	P82933	RT09_HUMAN	N	27	ENSP00000258455:K27N	ENSP00000258455:K27N	K	+	3	2	MRPS9	105021063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.515000	0.06290	-1.607000	0.01589	-1.045000	0.02358	AAG	.		0.622	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		T	105654631	G	T	105654631	3	4	9	1	0	0	0	0	1	0	0	0	9887	962	34	3	83	3	MRPS9	2	105654631	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2690174	105654631	137544742	63	1650											
TGFBRAP1	9392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	105886085	105886085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgtgcaccaggatatGcagcgccttctcatgctcgc	10	15	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:105886085G>T	ENST00000393359.2	-	11	2476	c.2050C>A	c.(2050-2052)Cat>Aat	p.H684N	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H684N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	684					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						ACCAGGATATGCAGCGCCTTC	0.642																																					p.H684N	Esophageal Squamous(183;794 2019 9730 21801 48859)	.											.	TGFBRAP1-91	0			c.C2050A						.						27	27	27					2																	105886085		2203	4300	6503	SO:0001583	missense	9392	exon11			GGATATGCAGCGC	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.2050C>A	2.37:g.105886085G>T	ENSP00000377027:p.His684Asn	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	58	30	NM_004257	0	0	2	7	5	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248571	0.39797	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.16897	2.31;2.31	5.54	4.64	0.57946	.	0.388763	0.31031	N	0.008390	T	0.15955	0.0384	L	0.50333	1.59	0.44402	D	0.997319	B;B	0.23990	0.095;0.004	B;B	0.17979	0.02;0.016	T	0.03981	-1.0987	10	0.27082	T	0.32	-8.0679	11.254	0.49043	0.0:0.138:0.7185:0.1435	.	139;684	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	N	684;684;139	ENSP00000377027:H684N;ENSP00000258449:H684N	ENSP00000258449:H684N	H	-	1	0	TGFBRAP1	105252517	1.000000	0.71417	0.948000	0.38648	0.616000	0.37450	3.594000	0.54008	1.308000	0.44962	0.462000	0.41574	CAT	.		0.642	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		T	105886085	G	T	105886085	3	4	9	1	0	0	0	0	1	0	0	0	15871	1319	46	3	540	3	TGFBRAP1	2	105886085	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	231454	105886085	137313288	64	1651											
SLC5A7	60482	ucsc.edu;bcgsc.ca	37	chr2	108609540	108609540	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctgtttattcctgcactGatgggagaaatgttctgggc	11	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:108609540G>T	ENST00000264047.2	+	4	681	c.405G>T	c.(403-405)ctG>ctT	p.L135L	SLC5A7_ENST00000409059.1_Silent_p.L135L|SLC5A7_ENST00000540517.1_Silent_p.L30L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	135					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCTGCACTGATGGGAGAAA	0.443																																					p.L135L		.											.	SLC5A7-93	0			c.G405T						.						124	110	115					2																	108609540		2203	4300	6503	SO:0001819	synonymous_variant	60482	exon4			TGCACTGATGGGA	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.405G>T	2.37:g.108609540G>T		Somatic	181	3		WXS	Illumina GAIIx	Phase_I	141	65	NM_021815	0	0	0	0	0	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																			.		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			T	108609540	G	T	108609540	2	4	9	1	0	0	0	0	0	0	0	1	14715	1277	45	3		3	SLC5A7	2	108609540	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2723455	108609540	134589833	65	1652											
GCC2	9648	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	109087646	109087646	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataagaaatgtgaaagggaaGaaagattgattcttgaactt	10	2	1	6			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:109087646G>T	ENST00000309863.6	+	6	2575	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	621					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAAAGGGAAGAAAGATTGAT	0.313																																					p.E621X		.											.	GCC2-91	0			c.G1861T						.						65	75	72					2																	109087646		2201	4298	6499	SO:0001587	stop_gained	9648	exon6			AGGGAAGAAAGAT	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1861G>T	2.37:g.109087646G>T	ENSP00000307939:p.Glu621*	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	150	18	NM_181453	0	0	2	2	0	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858402	0.51376	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.62	3.72	0.42706	.	0.305751	0.29932	N	0.010833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.1819	0.20476	0.2202:0.3649:0.4149:0.0	.	.	.	.	X	621;584;366	.	ENSP00000307939:E621X	E	+	1	0	GCC2	108454078	0.911000	0.30947	0.008000	0.14137	0.125000	0.20455	0.453000	0.21811	0.711000	0.32018	0.650000	0.86243	GAA	.		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109087646	G	T	109087646	4	4	9	1	0	0	0	0	0	1	0	0	6311	943	33	3	1883	3	GCC2	2	109087646	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	478106	109087646	134111727	66	1653											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	9	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	1284546	110372192	132827181	67	1654											
MERTK	10461	ucsc.edu;bcgsc.ca	37	chr2	112740485	112740485	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagtgataatgtggacatcaGatggatgaagcctccgacta	11	7	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:112740485G>T	ENST00000295408.4	+	8	1468	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	MERTK_ENST00000421804.2_Missense_Mutation_p.R404I|MERTK_ENST00000409780.1_Missense_Mutation_p.R228I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	404	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGACATCAGATGGATGAAG	0.458																																					p.R404I		.											.	MERTK-1463	0			c.G1211T						.						178	170	172					2																	112740485		2203	4300	6503	SO:0001583	missense	10461	exon8			ACATCAGATGGAT	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1211G>T	2.37:g.112740485G>T	ENSP00000295408:p.Arg404Ile	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	140	69	NM_006343	0	0	4	17	13	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019675	0.19355	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.54279	0.58;0.58;0.58	4.8	2.99	0.34606	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35013	U	0.003509	T	0.51092	0.1654	M	0.84948	2.725	0.22001	N	0.999424	P	0.39216	0.664	B	0.35353	0.201	T	0.53429	-0.8440	10	0.66056	D	0.02	-5.1359	6.4736	0.22022	0.167:0.1474:0.6856:0.0	.	404	Q12866	MERTK_HUMAN	I	404;404;228	ENSP00000295408:R404I;ENSP00000389152:R404I;ENSP00000387277:R228I	ENSP00000295408:R404I	R	+	2	0	MERTK	112456956	0.002000	0.14202	0.003000	0.11579	0.193000	0.23685	1.038000	0.30254	0.552000	0.29026	0.508000	0.49915	AGA	.		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			T	112740485	G	T	112740485	3	4	9	1	0	0	0	0	1	0	0	0	9517	942	33	3	1241	3	MERTK	2	112740485	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2368293	112740485	130458888	68	1655											
WDR33	55339	broad.mit.edu	37	chr2	128477187	128477187	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatctcttgaggcgggtgGcccataatcatcccttgggg	12	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:128477187G>T	ENST00000322313.4	-	16	2570	c.2412C>A	c.(2410-2412)ggC>ggA	p.G804G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	804					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)		GAGGCGGGTGGCCCATAATCA	0.607																																					p.G804G		.											.	WDR33-90	0			c.C2412A						.						28	32	31					2																	128477187		2203	4300	6503	SO:0001819	synonymous_variant	55339	exon16			CGGGTGGCCCATA		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.2412C>A	2.37:g.128477187G>T		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	24	3	NM_018383	0	0	5	6	1	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																			.		0.607	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		T	128477187	G	T	128477187	2	4	9	1	0	0	0	0	0	0	0	1	17336	1190	42	3		3	WDR33	2	128477187	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	15736702	128477187	114722186	69	1656											
AMMECR1L	83607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128631584	128631584	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggattcattcgtgtgatGggagagtttccaggtcccag	15	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:128631584G>T	ENST00000272647.5	-	3	485	c.225C>A	c.(223-225)ccC>ccA	p.P75P	AMMECR1L_ENST00000393001.1_Silent_p.P75P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	75										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)		TTCGTGTGATGGGAGAGTTTC	0.547																																					p.P75P		.											.	AMMECR1L-90	0			c.C225A						.						176	160	166					2																	128631584		2203	4300	6503	SO:0001819	synonymous_variant	83607	exon3			TGTGATGGGAGAG		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.225C>A	2.37:g.128631584G>T		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	122	24	NM_031445	0	0	2	4	2	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																			.		0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		T	128631584	G	T	128631584	2	4	9	1	0	0	0	0	0	0	0	1	579	1335	47	3		3	AMMECR1L	2	128631584	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	154397	128631584	114567789	70	1657											
CCDC74B	91409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	130898834	130898834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtcagcttttgaatcttGcttgttgaaggagccgggct	13	8	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:130898834G>T	ENST00000310463.6	-	4	717	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	CCDC74B_ENST00000409943.3_Missense_Mutation_p.Q128K|CCDC74B_ENST00000392984.3_Missense_Mutation_p.Q296K|CCDC74B_ENST00000409128.1_Missense_Mutation_p.Q170K|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	194										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTTGAATCTTGCTTGTTGAAG	0.602																																					p.Q194K		.											.	CCDC74B-90	0			c.C580A						.						109	79	89					2																	130898834		2202	4296	6498	SO:0001583	missense	91409	exon4			AATCTTGCTTGTT		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.580C>A	2.37:g.130898834G>T	ENSP00000308873:p.Gln194Lys	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	83	32	NM_207310	0	0	99	99	0	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	0.503	-0.870092	0.02570	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128;ENST00000418636	T;T;T;T	0.52754	1.83;1.85;1.8;0.65	2.39	1.48	0.22813	.	0.931409	0.08765	U	0.897237	T	0.53158	0.1779	L	0.60455	1.87	0.09310	N	0.999993	B;D;P	0.61697	0.337;0.99;0.794	B;P;B	0.56216	0.038;0.794;0.31	T	0.42498	-0.9448	10	0.54805	T	0.06	-3.2957	4.3607	0.11201	0.2006:0.0:0.7994:0.0	.	296;128;194	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	K	128;194;296;132;170;153	ENSP00000386294:Q128K;ENSP00000308873:Q194K;ENSP00000376710:Q296K;ENSP00000386644:Q170K	ENSP00000308873:Q194K	Q	-	1	0	CCDC74B	130615304	0.975000	0.34042	0.785000	0.31869	0.090000	0.18270	1.771000	0.38542	1.338000	0.45544	0.298000	0.19748	CAA	.		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		T	130898834	G	T	130898834	3	4	9	1	0	0	0	0	1	0	0	0	2855	1328	46	3	582	3	CCDC74B	2	130898834	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2267250	130898834	112300539	71	1658											
NEB	4703	bcgsc.ca	37	chr2	152515607	152515607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattaattgcatttgcctttGccaaaataatctgggggata	8	6	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:152515607G>T	ENST00000172853.10	-	47	6194	c.6047C>A	c.(6046-6048)gCa>gAa	p.A2016E	NEB_ENST00000603639.1_Missense_Mutation_p.A2016E|NEB_ENST00000409198.1_Missense_Mutation_p.A2016E|NEB_ENST00000397345.3_Missense_Mutation_p.A2016E|NEB_ENST00000604864.1_Missense_Mutation_p.A2016E|NEB_ENST00000427231.2_Missense_Mutation_p.A2016E			P20929	NEBU_HUMAN	nebulin	2016					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)		ATTTGCCTTTGCCAAAATAAT	0.368																																					p.A2016E		.											.	NEB-145	0			c.C6047A						.						220	213	215					2																	152515607		1873	4106	5979	SO:0001583	missense	4703	exon47			GCCTTTGCCAAAA	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.6047C>A	2.37:g.152515607G>T	ENSP00000172853:p.Ala2016Glu	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	74	5	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.852359	0.91355	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85603	0.1253	10	0.72032	D	0.01	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	2016	P20929	NEBU_HUMAN	E	2016	ENSP00000386259:A2016E;ENSP00000380505:A2016E;ENSP00000416578:A2016E;ENSP00000172853:A2016E	ENSP00000172853:A2016E	A	-	2	0	NEB	152223853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.123000	0.89586	2.894000	0.99253	0.591000	0.81541	GCA	.		0.368	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152515607	G	T	152515607	3	4	9	1	0	0	0	0	1	0	0	0	10341	1319	46	3	20183	3	NEB	2	152515607	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	21616773	152515607	90683766	72	1659											
SCN2A	6326	broad.mit.edu;bcgsc.ca	37	chr2	166166936	166166936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcgctaataggattGcagttgttcatgggcaacct	12	7	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:166166936G>T	ENST00000375437.2	+	7	1091	c.801G>T	c.(799-801)ttG>ttT	p.L267F	SCN2A_ENST00000283256.6_Missense_Mutation_p.L267F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L267F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L267F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	267					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.L267F(2)		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)	TAATAGGATTGCAGTTGTTCA	0.408																																					p.L267F		.											.	SCN2A-142	2	Substitution - Missense(2)	lung(2)	c.G801T						.						222	212	215					2																	166166936		2203	4300	6503	SO:0001583	missense	6326	exon6			AGGATTGCAGTTG	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.801G>T	2.37:g.166166936G>T	ENSP00000364586:p.Leu267Phe	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	88	6	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777242	0.49786	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.27	-9.01	0.00744	Ion transport (1);	0.123925	0.36628	N	0.002487	D	0.98661	0.9551	H	0.94462	3.54	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97492	1.0054	10	0.87932	D	0	.	10.7419	0.46158	0.21:0.1689:0.6211:0.0	.	267;267	Q99250-2;Q99250	.;SCN2A_HUMAN	F	267	ENSP00000406454:L267F;ENSP00000364586:L267F;ENSP00000349973:L267F;ENSP00000283256:L267F;ENSP00000364576:L267F	ENSP00000283256:L267F	L	+	3	2	SCN2A	165875182	0.452000	0.25713	0.656000	0.29637	0.904000	0.53231	-0.258000	0.08733	-1.308000	0.02318	-1.193000	0.01689	TTG	.		0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166166936	G	T	166166936	3	4	9	1	0	0	0	0	1	0	0	0	13961	1310	46	3	919	3	SCN2A	2	166166936	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	13651329	166166936	77032437	73	1660											
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	167129186	167129186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattcagatcttctgcttgtCttatctccctggaaatcttt	5	10	6	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:167129186C>A	ENST00000409435.1	-	16	3073	c.3074G>T	c.(3073-3075)aGa>aTa	p.R1025I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1026I|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1014I|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1026I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1025					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTGCTTGTCTTATCTCCCT	0.318																																					p.R1014I		.											.	SCN9A-181	0			c.G3041T						.						94	87	89					2																	167129186		1818	4080	5898	SO:0001583	missense	6335	exon17			GCTTGTCTTATCT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3074G>T	2.37:g.167129186C>A	ENSP00000386330:p.Arg1025Ile	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	37	6	NM_002977	0	0	0	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561881	0.27915	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.42	0.333	0.15943	.	1.131860	0.06567	N	0.747750	T	0.74794	0.3763	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.59925	-0.7362	10	0.59425	D	0.04	.	1.5815	0.02636	0.1229:0.2907:0.1782:0.4082	.	1014	E7EUN6	.	I	1014;1026;1026;1025	ENSP00000386306:R1014I;ENSP00000364536:R1026I;ENSP00000304748:R1026I;ENSP00000386330:R1025I	ENSP00000304748:R1026I	R	-	2	0	SCN9A	166837432	0.000000	0.05858	0.001000	0.08648	0.736000	0.42039	0.552000	0.23376	0.051000	0.15978	-0.157000	0.13467	AGA	.		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167129186	C	A	167129186	3	1	9	1	0	0	0	0	1	0	0	0	13970	913	32	3	2936	3	SCN9A	2	167129186	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	962250	167129186	76070187	74	1661											
DHRS9	10170	bcgsc.ca	37	chr2	169939886	169939886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgttcccggcgtgctggctCccactgactggctgacacta	12	14	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:169939886C>A	ENST00000327239.4	+	6	1865	c.361C>A	c.(361-363)Ccc>Acc	p.P121T	DHRS9_ENST00000428522.1_Missense_Mutation_p.P121T|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.P121T|DHRS9_ENST00000357546.2_Missense_Mutation_p.P121T|DHRS9_ENST00000412271.1_Missense_Mutation_p.P121T|DHRS9_ENST00000432060.2_Missense_Mutation_p.P181T|DHRS9_ENST00000436483.2_Missense_Mutation_p.P121T	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	121					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGTGCTGGCTCCCACTGACTG	0.473																																					p.P121T		.											.	DHRS9-90	0			c.C361A						.						124	108	114					2																	169939886		2203	4300	6503	SO:0001583	missense	10170	exon6			CTGGCTCCCACTG	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.361C>A	2.37:g.169939886C>A	ENSP00000316670:p.Pro121Thr	Somatic	164	5		WXS	Illumina GAIIx	Phase_I	118	53	NM_005771	0	0	0	0	0	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358447	0.82243	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.84	4.97	0.65823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.58302	1.8	0.53688	D	0.99997	P;D	0.56287	0.948;0.975	P;P	0.58520	0.823;0.84	D	0.93101	0.6508	10	0.56958	D	0.05	.	14.7112	0.69232	0.0:0.93:0.0:0.07	.	181;121	B7Z416;Q9BPW9	.;DHRS9_HUMAN	T	121;121;181;121;121;121	ENSP00000316670:P121T;ENSP00000350154:P121T;ENSP00000389241:P181T;ENSP00000388564:P121T;ENSP00000407167:P121T;ENSP00000407747:P121T	ENSP00000316670:P121T	P	+	1	0	DHRS9	169648132	1.000000	0.71417	0.994000	0.49952	0.786000	0.44442	7.582000	0.82546	1.491000	0.48482	0.591000	0.81541	CCC	.		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		A	169939886	C	A	169939886	3	1	9	1	0	0	0	0	1	0	0	0	4512	855	30	3	367	3	DHRS9	2	169939886	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2810700	169939886	73259487	75	1662											
DCAF17	80067	ucsc.edu;bcgsc.ca	37	chr2	172330394	172330394	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggcaaaaaatgggatccaaGaaatggattgttgttctcta	10	5	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:172330394G>T	ENST00000375255.3	+	10	1327	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	334					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TGGGATCCAAGAAATGGATTG	0.338																																					p.E334X		.											.	DCAF17-90	0			c.G1000T						.						81	78	79					2																	172330394		2203	4300	6503	SO:0001587	stop_gained	80067	exon10			ATCCAAGAAATGG	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1000G>T	2.37:g.172330394G>T	ENSP00000364404:p.Glu334*	Somatic	135	5		WXS	Illumina GAIIx	Phase_I	97	39	NM_025000	0	0	0	0	0	B2RTW5|Q53TN3|Q9H908	Nonsense_Mutation	SNP	ENST00000375255.3	37	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219423|3.219423	0.58560|0.58560	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000429466|ENST00000339506;ENST00000431110	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.157487|.	0.53938|.	D|.	0.000042|.	.|T	.|0.75451	.|0.3851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73594	.|-0.3933	.|4	0.35671|.	T|.	0.21|.	-18.2514|-18.2514	19.4462|19.4462	0.94847|0.94847	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	334;84|84;35	.|.	ENSP00000364404:E334X|.	E|K	+|+	1|3	0|2	DCAF17|DCAF17	172038640|172038640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.362000|0.362000	0.29581|0.29581	6.093000|6.093000	0.71422|0.71422	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAA|AAG	.		0.338	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		T	172330394	G	T	172330394	4	4	9	1	0	0	0	0	0	1	0	0	4278	943	33	3	1038	3	DCAF17	2	172330394	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2390508	172330394	70868979	76	1663											
ITGA6	3655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	173338941	173338941	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatattcgatggagaaggtCtggcctcttcatttggctat	10	8	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:173338941C>A	ENST00000264106.6	+	7	1254	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	ITGA6_ENST00000375221.2_Missense_Mutation_p.L351M|ITGA6_ENST00000409532.1_Missense_Mutation_p.L193M|ITGA6_ENST00000343713.4_Missense_Mutation_p.L307M|ITGA6_ENST00000409080.1_Missense_Mutation_p.L312M|ITGA6_ENST00000264107.7_Missense_Mutation_p.L312M			P23229	ITA6_HUMAN	integrin, alpha 6	351					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)			TGGAGAAGGTCTGGCCTCTTC	0.493																																					p.L312M		.											.	ITGA6-227	0			c.C934A						.						126	113	118					2																	173338941		2203	4300	6503	SO:0001583	missense	3655	exon6			GAAGGTCTGGCCT		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.1051C>A	2.37:g.173338941C>A	ENSP00000264106:p.Leu351Met	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	117	62	NM_000210	0	0	1	1	0	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.229243	0.79688	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.36	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	N	0.13098	0.295	0.58432	D	0.999999	P;D;D	0.89917	0.92;1.0;1.0	P;D;D	0.97110	0.621;1.0;1.0	T	0.66110	-0.6005	10	0.33940	T	0.23	.	10.5298	0.44971	0.0:0.7951:0.0:0.2049	.	307;312;312	P23229-4;G5E9H1;P23229-2	.;.;.	M	198;193;312;351;351;307;312;351;307	ENSP00000413470:L198M;ENSP00000386614:L193M;ENSP00000264107:L312M;ENSP00000264106:L351M;ENSP00000364369:L351M;ENSP00000341078:L307M;ENSP00000386896:L312M;ENSP00000406694:L351M;ENSP00000394169:L307M	ENSP00000264106:L351M	L	+	1	2	ITGA6	173047187	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.208000	0.42797	1.258000	0.44101	0.655000	0.94253	CTG	.		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173338941	C	A	173338941	3	1	9	1	0	0	0	0	1	0	0	0	7907	912	32	3	956	3	ITGA6	2	173338941	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1008547	173338941	69860432	77	1664											
WIPF1	7456	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	175427307	175427307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagggagtggtggagcacCcctttctcttcggttggatc	16	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:175427307C>A	ENST00000392547.2	-	8	1579	c.1480G>T	c.(1480-1482)Ggt>Tgt	p.G494C	WIPF1_ENST00000392546.2_Missense_Mutation_p.G494C|WIPF1_ENST00000359761.3_Missense_Mutation_p.G494C|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G494C	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	494					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						GGTGGAGCACCCCTTTCTCTT	0.478																																					p.G494C		.											.	WIPF1-92	0			c.G1480T						.						115	108	110					2																	175427307		2203	4300	6503	SO:0001583	missense	7456	exon8			GAGCACCCCTTTC	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.1480G>T	2.37:g.175427307C>A	ENSP00000376330:p.Gly494Cys	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	147	84	NM_003387	0	0	1	1	0	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909180	0.72868	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546	T;T;T;T	0.54071	0.59;0.71;0.59;0.59	5.1	5.1	0.69264	.	0.050858	0.85682	D	0.000000	T	0.74183	0.3683	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78178	-0.2305	10	0.87932	D	0	.	16.3752	0.83383	0.0:1.0:0.0:0.0	.	494;494	O43516-3;O43516	.;WIPF1_HUMAN	C	494;350;494;494;494	ENSP00000376330:G494C;ENSP00000272746:G494C;ENSP00000352802:G494C;ENSP00000376329:G494C	ENSP00000272746:G494C	G	-	1	0	WIPF1	175135553	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.528000	0.60580	2.517000	0.84864	0.655000	0.94253	GGT	.		0.478	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		A	175427307	C	A	175427307	3	1	9	1	0	0	0	0	1	0	0	0	17416	623	22	3	35	3	WIPF1	2	175427307	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2088366	175427307	67772066	78	1665											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179477034	179477034	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggccagcacagagtcctCaatttcggtgtagtcgcttt	10	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:179477034C>A	ENST00000591111.1	-	216	45519	c.45295G>T	c.(45295-45297)Gag>Tag	p.E15099*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E16740*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14172*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E7800*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E7675*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7867*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15099	Fibronectin type-III 9. {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)			ACAGAGTCCTCAATTTCGGTG	0.448																																					p.E16740X		.											.	TTN-636	0			c.G50218T						.						78	77	77					2																	179477034		1942	4145	6087	SO:0001587	stop_gained	7273	exon266			AGTCCTCAATTTC	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.45295G>T	2.37:g.179477034C>A	ENSP00000465570:p.Glu15099*	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	89	20	NM_001267550	0	0	0	0	0	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	59	38.082893	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	.	.	.	X	14172;7675;7867;7800;7675	.	ENSP00000340554:E7867X	E	-	1	0	TTN	179185279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.697000	0.92050	0.563000	0.77884	GAG	.		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179477034	C	A	179477034	4	1	9	1	0	0	0	0	0	1	0	0	16784	835	29	3	57863	3	TTN	2	179477034	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4049727	179477034	63722339	79	1666											
TTN	7273	bcgsc.ca	37	chr2	179482553	179482553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtggctgcacttggttttCcaactccaattcgattttgg	10	9	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:179482553C>A	ENST00000591111.1	-	203	42826	c.42602G>T	c.(42601-42603)gGa>gTa	p.G14201V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G15842V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13274V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G6902V|TTN_ENST00000460472.2_Missense_Mutation_p.G6777V|TTN_ENST00000342175.6_Missense_Mutation_p.G6969V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14201	Fibronectin type-III 2. {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)			ACTTGGTTTTCCAACTCCAAT	0.443																																					p.G15842V		.											.	TTN-636	0			c.G47525T						.						153	145	147					2																	179482553		1955	4158	6113	SO:0001583	missense	7273	exon253			GGTTTTCCAACTC	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.42602G>T	2.37:g.179482553C>A	ENSP00000465570:p.Gly14201Val	Somatic	421	5		WXS	Illumina GAIIx	Phase_I	286	59	NM_001267550	0	0	0	0	0	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	13.66	2.304376	0.40795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86335	0.5908	H	0.95328	3.655	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	0.89552	0.3800	9	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	6777;6902;6969;14201	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13274;6777;6969;6902;6777	ENSP00000343764:G13274V;ENSP00000434586:G6777V;ENSP00000340554:G6969V;ENSP00000352154:G6902V	ENSP00000340554:G6969V	G	-	2	0	TTN	179190798	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.729000	0.84864	2.826000	0.97356	0.655000	0.94253	GGA	.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179482553	C	A	179482553	3	1	9	1	0	0	0	0	1	0	0	0	16784	855	30	3	60608	3	TTN	2	179482553	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5519	179482553	63716820	80	1667											
ITGA4	3676	broad.mit.edu;bcgsc.ca	37	chr2	182360586	182360586	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacgaaatttgactgtgttGaaaatggatggccttctgtg	12	5	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:182360586G>T	ENST00000397033.2	+	14	1892	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	488					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)	TGACTGTGTTGAAAATGGATG	0.393																																					p.E488X		.											.	ITGA4-230	0			c.G1462T						.						184	165	171					2																	182360586		1912	4133	6045	SO:0001587	stop_gained	3676	exon14			TGTGTTGAAAATG		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.1462G>T	2.37:g.182360586G>T	ENSP00000380227:p.Glu488*	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	212	9	NM_000885	0	0	0	0	0	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781196	0.97833	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.8	5.8	0.92144	.	0.048258	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.6414	0.77006	0.0:0.0:0.8621:0.1379	.	.	.	.	X	488	.	ENSP00000233573:E488X	E	+	1	0	ITGA4	182068831	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.350000	0.66016	2.741000	0.93983	0.650000	0.86243	GAA	.		0.393	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182360586	G	T	182360586	4	4	9	1	0	0	0	0	0	1	0	0	7905	1291	45	3	1516	3	ITGA4	2	182360586	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2878033	182360586	60838787	81	1668											
ITGA4	3676	broad.mit.edu;bcgsc.ca	37	chr2	182399023	182399023	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agacttcagcactcaagtttGaaataagagcaacaggtttt	8	7	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:182399023G>T	ENST00000397033.2	+	26	3239	c.2809G>T	c.(2809-2811)Gaa>Taa	p.E937*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	937					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)	ACTCAAGTTTGAAATAAGAGC	0.358																																					p.E937X		.											.	ITGA4-230	0			c.G2809T						.						72	64	67					2																	182399023		1827	4087	5914	SO:0001587	stop_gained	3676	exon26			AAGTTTGAAATAA		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.2809G>T	2.37:g.182399023G>T	ENSP00000380227:p.Glu937*	Somatic	331	1		WXS	Illumina GAIIx	Phase_I	258	19	NM_000885	0	0	1	1	0	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.748396	0.99253	.	.	ENSG00000115232	ENST00000397033	.	.	.	5.96	5.03	0.67393	.	0.631995	0.18155	N	0.149979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.3547	0.66730	0.0:0.0:0.8523:0.1476	.	.	.	.	X	937	.	ENSP00000380227:E937X	E	+	1	0	ITGA4	182107268	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	4.285000	0.58989	2.826000	0.97356	0.655000	0.94253	GAA	.		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182399023	G	T	182399023	4	4	9	1	0	0	0	0	0	1	0	0	7905	1291	45	3	2911	3	ITGA4	2	182399023	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	38437	182399023	60800350	82	1669											
ZNF804A	91752	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	185803043	185803043	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcctatctttgccattatGaactggctgaggcccttcca	7	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:185803043G>T	ENST00000302277.6	+	4	3514	c.2920G>T	c.(2920-2922)Gaa>Taa	p.E974*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	974							metal ion binding (GO:0046872)	p.E974K(1)		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						TTGCCATTATGAACTGGCTGA	0.388																																					p.E974X		.											.	ZNF804A-163	1	Substitution - Missense(1)	large_intestine(1)	c.G2920T						.						97	93	94					2																	185803043		2203	4300	6503	SO:0001587	stop_gained	91752	exon4			CATTATGAACTGG	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.2920G>T	2.37:g.185803043G>T	ENSP00000303252:p.Glu974*	Somatic	112	1		WXS	Illumina GAIIx	Phase_I	103	24	NM_194250	0	0	0	0	0	A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	43	10.013329	0.99317	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.4909	15.7582	0.78054	0.0:0.0:1.0:0.0	.	.	.	.	X	974	.	ENSP00000303252:E974X	E	+	1	0	ZNF804A	185511288	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	6.349000	0.73013	2.377000	0.81083	0.467000	0.42956	GAA	.		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		T	185803043	G	T	185803043	4	4	9	1	0	0	0	0	0	1	0	0	18218	1291	45	3	2934	3	ZNF804A	2	185803043	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3404020	185803043	57396330	83	1670											
CALCRL	10203	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	188250272	188250272	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatatatttttatgcttacCataaaaaaaggcaagagaac	5	5	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:188250272C>A	ENST00000409998.1	-	5	832	c.51G>T	c.(49-51)atG>atT	p.M17I	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Splice_Site_p.M17I|CALCRL_ENST00000392370.3_Splice_Site_p.M17I			Q16602	CALRL_HUMAN	calcitonin receptor-like	17					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTATGCTTACCATAAAAAAAG	0.274																																					p.M17I		.											.	CALCRL-523	0			c.G51T						.						30	32	32					2																	188250272		2195	4261	6456	SO:0001630	splice_region_variant	10203	exon3			GCTTACCATAAAA	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.51+1G>T	2.37:g.188250272C>A		Somatic	137	2		WXS	Illumina GAIIx	Phase_I	95	45	NM_001271751	0	0	0	0	0	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090209	0.20390	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403;ENST00000410102	T;T;T;T;T	0.52983	1.1;1.1;1.1;1.63;0.64	5.81	4.93	0.64822	.	0.081732	0.48286	D	0.000198	T	0.24851	0.0603	N	0.08118	0	0.27052	N	0.963765	B	0.16396	0.017	B	0.10450	0.005	T	0.09552	-1.0669	9	.	.	.	.	9.8203	0.40878	0.0:0.909:0.0:0.091	.	17	Q16602	CALRL_HUMAN	I	17	ENSP00000376177:M17I;ENSP00000386972:M17I;ENSP00000387190:M17I;ENSP00000415626:M17I;ENSP00000386599:M17I	.	M	-	3	0	CALCRL	187958517	1.000000	0.71417	0.995000	0.50966	0.463000	0.32649	2.672000	0.46850	2.759000	0.94783	0.591000	0.81541	ATG	.		0.274	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	Missense_Mutation	A	188250272	C	A	188250272	5	1	9	1	0	0	0	0	0	0	1	0	2587	608	21	3	1382	3	CALCRL	2	188250272	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2447229	188250272	54949101	84	1671											
COL5A2	1290	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	189917495	189917495	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggcggaccttgggttcctcGaccaccttttagtccaggaa	11	12	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:189917495G>T	ENST00000374866.3	-	40	2969	c.2695C>A	c.(2695-2697)Cga>Aga	p.R899R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	899					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGGTTCCTCGACCACCTTTT	0.413																																					p.R899R		.											.	COL5A2-92	0			c.C2695A						.						85	87	86					2																	189917495		2203	4300	6503	SO:0001819	synonymous_variant	1290	exon40			TTCCTCGACCACC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2695C>A	2.37:g.189917495G>T		Somatic	202	1		WXS	Illumina GAIIx	Phase_I	163	80	NM_000393	0	0	3	3	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																			.		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		T	189917495	G	T	189917495	2	4	9	1	0	0	0	0	0	0	0	1	3704	1066	37	2		2	COL5A2	2	189917495	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1667223	189917495	53281878	85	1672											
CCDC150	284992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197541324	197541324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgtatccagaaagcacagGatgctgaaaagagaacagct	11	7	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:197541324G>T	ENST00000389175.4	+	12	1444	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.D105Y|CCDC150_ENST00000272831.7_Missense_Mutation_p.D105Y	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	437										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAAGCACAGGATGCTGAAAA	0.388																																					p.D437Y		.											.	.	0			c.G1309T						.						75	72	73					2																	197541324		1862	4109	5971	SO:0001583	missense	284992	exon12			GCACAGGATGCTG		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.1309G>T	2.37:g.197541324G>T	ENSP00000373827:p.Asp437Tyr	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	172	74	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307205	0.23821	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.47869	0.83	5.22	4.32	0.51571	.	0.717506	0.12994	N	0.422258	T	0.38799	0.1054	N	0.22421	0.69	0.31523	N	0.662093	P;P	0.41848	0.763;0.763	B;B	0.44224	0.444;0.444	T	0.44298	-0.9337	10	0.66056	D	0.02	-2.6043	9.9499	0.41631	0.0943:0.0:0.9057:0.0	.	105;437	B4DZ03;Q8NCX0	.;CC150_HUMAN	Y	105;437;105	ENSP00000373827:D437Y	ENSP00000272831:D105Y	D	+	1	0	CCDC150	197249569	0.020000	0.18652	0.940000	0.37924	0.280000	0.26924	1.447000	0.35101	2.717000	0.92951	0.563000	0.77884	GAT	.		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		T	197541324	G	T	197541324	3	4	9	1	0	0	0	0	1	0	0	0	2792	1174	41	3	1355	3	CCDC150	2	197541324	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7623829	197541324	45658049	86	1673											
SGOL2	151246	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	201397779	201397779	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagacaaaagaatttcaaaGactactaagttgaatgtttc	6	5	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:201397779G>T	ENST00000357799.4	+	2	179	c.81G>T	c.(79-81)aaG>aaT	p.K27N	SGOL2_ENST00000409203.3_Missense_Mutation_p.K27N	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)	27					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						GAATTTCAAAGACTACTAAGT	0.328																																					p.K27N		.											.	SGOL2-94	0			c.G81T						.						62	63	62					2																	201397779		1791	4060	5851	SO:0001583	missense	151246	exon2			TTCAAAGACTACT	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.81G>T	2.37:g.201397779G>T	ENSP00000350447:p.Lys27Asn	Somatic	191	1		WXS	Illumina GAIIx	Phase_I	120	49	NM_001160046	0	0	0	0	0	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429514	0.62844	.	.	ENSG00000163535	ENST00000418045;ENST00000357799;ENST00000409203	T;T;T	0.64260	-0.09;-0.09;-0.09	5.84	0.354	0.16063	.	0.000000	0.53938	D	0.000046	T	0.69878	0.3160	M	0.66939	2.045	0.18873	N	0.999984	D;D;D;D	0.67145	0.996;0.996;0.996;0.959	D;D;D;P	0.64410	0.925;0.925;0.925;0.647	T	0.60581	-0.7235	10	0.87932	D	0	-8.3524	7.5575	0.27833	0.6447:0.0:0.3553:0.0	.	27;27;27;27	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	N	27	ENSP00000393325:K27N;ENSP00000350447:K27N;ENSP00000386249:K27N	ENSP00000350447:K27N	K	+	3	2	SGOL2	201106024	0.965000	0.33210	0.666000	0.29783	0.998000	0.95712	0.669000	0.25142	0.120000	0.18254	0.655000	0.94253	AAG	.		0.328	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201397779	G	T	201397779	3	4	9	1	0	0	0	0	1	0	0	0	14262	933	33	3	83	3	SGOL2	2	201397779	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3856455	201397779	41801594	87	1674											
CFLAR	8837	ucsc.edu;bcgsc.ca	37	chr2	201994606	201994606	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggatgtctgctgaagtcatCcatcaggttgaagaagcact	11	8	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:201994606C>A	ENST00000309955.3	+	2	533	c.18C>A	c.(16-18)atC>atA	p.I6I	CFLAR_ENST00000340870.5_Silent_p.I6I|CFLAR_ENST00000440180.1_Silent_p.I6I|CFLAR_ENST00000423241.2_Silent_p.I6I|CFLAR_ENST00000395148.2_Silent_p.I6I|CFLAR_ENST00000457277.1_Silent_p.I6I|CFLAR_ENST00000355558.4_Silent_p.I6I|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000341222.6_Silent_p.I6I|CFLAR_ENST00000341582.6_Silent_p.I6I|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000342795.5_Silent_p.I6I	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	6	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTGAAGTCATCCATCAGGTTG	0.498																																					p.I6I	Pancreas(16;548 657 22190 32864 42338)	.											.	CFLAR-227	0			c.C18A						.						168	165	166					2																	201994606		2203	4300	6503	SO:0001819	synonymous_variant	8837	exon2			AGTCATCCATCAG	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.18C>A	2.37:g.201994606C>A		Somatic	160	3		WXS	Illumina GAIIx	Phase_I	159	80	NM_001202516	0	0	4	6	2	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	CCDS2337.1																																																																																			.		0.498	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		A	201994606	C	A	201994606	2	1	9	1	0	0	0	0	0	0	0	1	3299	845	30	3		3	CFLAR	2	201994606	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	596827	201994606	41204767	88	1675											
INO80D	54891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	206869265	206869265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctgaactgagggagttGctgcttgggagaggtggagg	20	5	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:206869265G>T	ENST00000403263.1	-	11	3315	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAGGGAGTTGCTGCTTGGGA	0.597																																					p.Q971K		.											.	INO80D-91	0			c.C2911A						.						44	49	48					2																	206869265		2080	4227	6307	SO:0001583	missense	54891	exon11			GGAGTTGCTGCTT		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2911C>A	2.37:g.206869265G>T	ENSP00000384198:p.Gln971Lys	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	99	10	NM_017759	0	0	0	0	0	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421931	0.62622	.	.	ENSG00000114933	ENST00000403263	T	0.43294	0.95	5.84	4.97	0.65823	.	.	.	.	.	T	0.49795	0.1578	N	0.24115	0.695	0.53005	D	0.999961	D	0.61080	0.989	D	0.70487	0.969	T	0.51896	-0.8647	9	0.48119	T	0.1	.	14.9243	0.70866	0.0683:0.0:0.9317:0.0	.	971	Q53TQ3-2	.	K	971	ENSP00000384198:Q971K	ENSP00000384198:Q971K	Q	-	1	0	INO80D	206577510	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	9.230000	0.95299	1.479000	0.48272	-0.136000	0.14681	CAA	.		0.597	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		T	206869265	G	T	206869265	3	4	9	1	0	0	0	0	1	0	0	0	7776	1328	46	3	176	3	INO80D	2	206869265	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4874659	206869265	36330108	89	1676											
ZDBF2	57683	broad.mit.edu	37	chr2	207174885	207174885	+	Frame_Shift_Del	DEL	G	G	-													ggggaaaaaaaaggttacctGggctgacttgcaaggtaagg							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:207174885delG	ENST00000374423.3	+	5	6019	c.5633delG	c.(5632-5634)tggfs	p.W1878fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1878							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGTTACCTGGGCTGACTTG	0.438																																					p.W1878fs		.											.	ZDBF2-3	0			c.5633delG						.						55	54	55					2																	207174885		1965	4151	6116	SO:0001589	frameshift_variant	57683	exon5			TTACCTGGGCTGA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5633delG	2.37:g.207174885delG	ENSP00000363545:p.Trp1878fs	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	76	10	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	ENST00000374423.3	37	CCDS46501.1																																																																																			.		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		-	207174885	G	-	207174885	7	5	9	1	0	1	0	1	0	0	0	0	17647	1357	47	0	5643	0	ZDBF2	2	207174885	Frame_Shift_Del	DEL	G	TCGA-OR-A5JA-01A-11D-A29I-10	305620	207174885	36024488	90	1677											
KLF7	8609	bcgsc.ca	37	chr2	207988945	207988945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcccgagagagcaagatgtCcactgccgagctcttctcac	10	14	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:207988945C>A	ENST00000309446.6	-	2	662	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000423015.1_Missense_Mutation_p.D96Y|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.D63Y|KLF7_ENST00000412414.2_Missense_Mutation_p.D68Y	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	96					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGCAAGATGTCCACTGCCGAG	0.612																																					p.D96Y		.											.	KLF7-91	0			c.G286T						.						44	45	45					2																	207988945		2203	4300	6503	SO:0001583	missense	8609	exon2			AGATGTCCACTGC	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.286G>T	2.37:g.207988945C>A	ENSP00000309570:p.Asp96Tyr	Somatic	172	6		WXS	Illumina GAIIx	Phase_I	165	53	NM_003709	0	0	1	2	1	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414997	0.25552	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602;ENST00000426163	T;T;T	0.06449	3.3;3.34;3.33	5.91	5.91	0.95273	.	0.088733	0.85682	D	0.000000	T	0.18676	0.0448	L	0.60455	1.87	0.50313	D	0.999864	D;D;P	0.60160	0.976;0.987;0.952	P;P;B	0.55303	0.648;0.773;0.395	T	0.00020	-1.2356	10	0.44086	T	0.13	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	68;96;96	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	Y	96;63;96;68;68;96	ENSP00000309570:D96Y;ENSP00000387510:D63Y;ENSP00000403284:D68Y	ENSP00000309570:D96Y	D	-	1	0	KLF7	207697190	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	3.614000	0.54160	2.813000	0.96785	0.655000	0.94253	GAC	.		0.612	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		A	207988945	C	A	207988945	3	1	9	1	0	0	0	0	1	0	0	0	8378	855	30	3	634	3	KLF7	2	207988945	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	814060	207988945	35210428	91	1678											
TTLL4	9654	broad.mit.edu	37	chr2	219602615	219602615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttgggcccaggcctcttGggcgtcccaccccagccagc	14	17	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:219602615G>T	ENST00000392102.1	+	3	556	c.216G>T	c.(214-216)ttG>ttT	p.L72F	TTLL4_ENST00000258398.4_Missense_Mutation_p.L72F|TTLL4_ENST00000442769.1_Missense_Mutation_p.L72F|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	72					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)		CAGGCCTCTTGGGCGTCCCAC	0.567																																					p.L72F	GBM(172;1818 2053 15407 20943 49753)	.											.	TTLL4-93	0			c.G216T						.						91	94	93					2																	219602615		2203	4300	6503	SO:0001583	missense	9654	exon3			CCTCTTGGGCGTC		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.216G>T	2.37:g.219602615G>T	ENSP00000375951:p.Leu72Phe	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	153	4	NM_014640	0	0	2	2	0	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503614	0.04261	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.34	2.58	0.30949	.	0.805608	0.10413	N	0.677670	T	0.24967	0.0606	L	0.34521	1.04	0.09310	N	1	P;P	0.48911	0.917;0.917	P;P	0.47470	0.548;0.451	T	0.12268	-1.0554	10	0.72032	D	0.01	.	7.3894	0.26901	0.359:0.0:0.641:0.0	.	72;72	E7EX20;Q14679	.;TTLL4_HUMAN	F	72	ENSP00000411228:L72F;ENSP00000375951:L72F;ENSP00000391342:L72F;ENSP00000396555:L72F;ENSP00000405485:L72F;ENSP00000258398:L72F	ENSP00000258398:L72F	L	+	3	2	TTLL4	219310859	0.980000	0.34600	0.003000	0.11579	0.019000	0.09904	0.561000	0.23515	0.252000	0.21531	0.563000	0.77884	TTG	.		0.567	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219602615	G	T	219602615	3	4	9	1	0	0	0	0	1	0	0	0	16778	1339	47	3	218	3	TTLL4	2	219602615	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	11613670	219602615	23596758	92	1679											
ACSL3	2181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	223773830	223773830	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacgtgaagttttaaatgagGaagatgaagtacaaccaaat	9	5	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:223773830G>T	ENST00000357430.3	+	4	871	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.E114*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	114					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)	TTTAAATGAGGAAGATGAAGT	0.284			T	ETV1	prostate																																p.E114X		.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3-228	0			c.G340T						.						45	47	46					2																	223773830		2197	4295	6492	SO:0001587	stop_gained	2181	exon3			AATGAGGAAGATG	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.340G>T	2.37:g.223773830G>T	ENSP00000350012:p.Glu114*	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	45	11	NM_203372	0	0	13	13	0	Q60I92|Q8IUM9	Nonsense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	40	8.340686	0.98767	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.2312	17.8436	0.88722	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000350012:E114X	E	+	1	0	ACSL3	223482074	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.263000	0.95617	2.451000	0.82905	0.591000	0.81541	GAA	.		0.284	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		T	223773830	G	T	223773830	4	4	9	1	0	0	0	0	0	1	0	0	178	1175	41	3	342	3	ACSL3	2	223773830	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4171215	223773830	19425543	93	1680											
WDR69	164781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	228770995	228770995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgctgagattagcagtGcctcattcaattgggattgc	11	7	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:228770995G>A	ENST00000309931.2	+	9	882	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	DAW1_ENST00000545118.1_Missense_Mutation_p.A252T|DAW1_ENST00000373666.2_Missense_Mutation_p.A267T	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	267						cilium (GO:0005929)											GATTAGCAGTGCCTCATTCAA	0.323																																					p.A267T		.											.	.	0			c.G799A						.						170	173	172					2																	228770995		2203	4299	6502	SO:0001583	missense	164781	exon9			AGCAGTGCCTCAT		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.799G>A	2.37:g.228770995G>A	ENSP00000311899:p.Ala267Thr	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	36	5	NM_178821	0	0	0	0	0	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093060	0.36952	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.60548	0.18;0.18;0.18	5.63	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.444435	0.25089	N	0.033237	T	0.54319	0.1851	L	0.45285	1.41	0.44927	D	0.997948	B	0.22080	0.064	B	0.31869	0.137	T	0.52335	-0.8589	10	0.45353	T	0.12	.	14.457	0.67423	0.0:0.0:0.8516:0.1484	.	267	Q8N136	WDR69_HUMAN	T	267;267;252	ENSP00000362770:A267T;ENSP00000311899:A267T;ENSP00000437887:A252T	ENSP00000311899:A267T	A	+	1	0	WDR69	228479239	1.000000	0.71417	0.596000	0.28811	0.767000	0.43475	3.685000	0.54678	1.343000	0.45638	0.313000	0.20887	GCC	.		0.323	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		A	228770995	G	A	228770995	3	1	9	1	0	0	0	0	1	0	0	0	17368	1319	46	3	833	3	WDR69	2	228770995	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4997165	228770995	14428378	94	1681											
SP140	11262	ucsc.edu;bcgsc.ca	37	chr2	231155258	231155258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtgaagggaattttaCataagaagaaattgcagcaa	13	3	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:231155258C>A	ENST00000392045.3	+	19	1918	c.1804C>A	c.(1804-1806)Cat>Aat	p.H602N	SP140_ENST00000486687.2_Missense_Mutation_p.H526N|SP140_ENST00000420434.3_Missense_Mutation_p.H575N|SP140_ENST00000350136.5_Missense_Mutation_p.H471N|SP140_ENST00000417495.3_Missense_Mutation_p.H488N|SP140_ENST00000343805.6_Missense_Mutation_p.H542N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	602	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGGAATTTTACATAAGAAGAA	0.403																																					p.H602N		.											.	SP140-90	0			c.C1804A						.						148	141	143					2																	231155258		1875	4105	5980	SO:0001583	missense	11262	exon19			ATTTTACATAAGA	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.1804C>A	2.37:g.231155258C>A	ENSP00000375899:p.His602Asn	Somatic	162	3		WXS	Illumina GAIIx	Phase_I	110	20	NM_007237	0	0	1	1	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064246	0.36373	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	3.06	-3.29	0.05017	SAND domain-like (2);SAND domain (3);	.	.	.	.	T	0.67813	0.2933	M	0.71206	2.165	0.09310	N	0.999998	D;D;D;P	0.63880	0.993;0.963;0.978;0.625	P;B;P;B	0.57620	0.824;0.346;0.647;0.308	T	0.61554	-0.7039	9	0.52906	T	0.07	-0.7433	7.7449	0.28862	0.0:0.4572:0.0:0.5428	.	575;488;542;602	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	N	526;471;602;488;542;575	ENSP00000440107:H526N;ENSP00000345846:H471N;ENSP00000375899:H602N;ENSP00000342096:H542N;ENSP00000398210:H575N	ENSP00000342096:H542N	H	+	1	0	SP140	230863502	0.000000	0.05858	0.007000	0.13788	0.225000	0.24961	-2.224000	0.01213	-0.760000	0.04677	0.456000	0.33151	CAT	.		0.403	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		A	231155258	C	A	231155258	3	1	9	1	0	0	0	0	1	0	0	0	15007	478	17	3	1995	3	SP140	2	231155258	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2384263	231155258	12044115	95	1682											
EIF4E2	9470	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233431658	233431658	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagttcatggttggggaggaGatctgtggggctgtggtgtc	19	5	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:233431658G>T	ENST00000258416.3	+	5	1168	c.495G>T	c.(493-495)gaG>gaT	p.E165D	EIF4E2_ENST00000409394.1_Missense_Mutation_p.E120D|EIF4E2_ENST00000409167.3_Missense_Mutation_p.E120D|EIF4E2_ENST00000409495.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409098.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409514.1_Missense_Mutation_p.E165D|EIF4E2_ENST00000409322.1_Missense_Mutation_p.E120D	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	165					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)		TTGGGGAGGAGATCTGTGGGG	0.572																																					p.E165D		.											.	EIF4E2-90	0			c.G495T						.						102	103	103					2																	233431658		2203	4300	6503	SO:0001583	missense	9470	exon5			GGAGGAGATCTGT	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.495G>T	2.37:g.233431658G>T	ENSP00000258416:p.Glu165Asp	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	65	36	NM_004846	0	0	22	51	29	B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068369	0.55539	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.66939	2.045	0.58432	D	0.999999	D;D;B	0.69078	0.99;0.997;0.043	D;D;B	0.71656	0.957;0.974;0.245	T	0.58177	-0.7682	10	0.41790	T	0.15	-23.0613	17.243	0.87019	0.0:0.0:1.0:0.0	.	120;165;165	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	D	165;165;165;165;120;120;120;160	ENSP00000258416:E165D;ENSP00000387336:E165D;ENSP00000386996:E165D;ENSP00000386876:E165D;ENSP00000387328:E120D;ENSP00000386424:E120D;ENSP00000386983:E120D;ENSP00000390904:E160D	ENSP00000258416:E165D	E	+	3	2	EIF4E2	233139902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	2.937000	0.99478	0.650000	0.86243	GAG	.		0.572	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		T	233431658	G	T	233431658	3	4	9	1	0	0	0	0	1	0	0	0	5046	933	33	3	513	3	EIF4E2	2	233431658	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2276400	233431658	9767715	96	1683											
DGKD	8527	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	234344974	234344974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcagattgcaatgcccCaccagtggttggaaggaaac	13	9	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:234344974C>A	ENST00000264057.2	+	7	718	c.706C>A	c.(706-708)Cac>Aac	p.H236N	DGKD_ENST00000409813.3_Missense_Mutation_p.H192N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	236					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAATGCCCCACCAGTGGTT	0.592																																					p.H236N		.											.	DGKD-676	0			c.C706A						.						171	130	143					2																	234344974		2203	4300	6503	SO:0001583	missense	8527	exon7			ATGCCCCACCAGT	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.706C>A	2.37:g.234344974C>A	ENSP00000264057:p.His236Asn	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	126	47	NM_152879	0	0	0	0	0	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031802	0.75504	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.99716	-6.51;-6.51	4.34	4.34	0.51931	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.137133	0.46758	D	0.000261	D	0.99837	0.9926	H	0.97214	3.96	0.80722	D	1	D;D;P	0.71674	0.998;0.996;0.562	D;D;P	0.77557	0.99;0.986;0.516	D	0.96489	0.9362	10	0.87932	D	0	.	17.4473	0.87581	0.0:1.0:0.0:0.0	.	120;192;236	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	N	236;192	ENSP00000264057:H236N;ENSP00000386455:H192N	ENSP00000264057:H236N	H	+	1	0	DGKD	234009713	1.000000	0.71417	0.954000	0.39281	0.536000	0.34869	7.278000	0.78587	2.432000	0.82394	0.655000	0.94253	CAC	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		A	234344974	C	A	234344974	3	1	9	1	0	0	0	0	1	0	0	0	4481	594	21	3	756	3	DGKD	2	234344974	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	913316	234344974	8854399	97	1684											
UGT1A3	54659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234638397	234638397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaccacatgacattcatgCaaagggtcaagaacatgctc	8	11	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:234638397C>A	ENST00000482026.1	+	1	644	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.Q209K|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	209					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GACATTCATGCAAAGGGTCAA	0.443																																					p.Q209K		.											.	UGT1A3-24	0			c.C625A						.						239	225	230					2																	234638397		2203	4300	6503	SO:0001583	missense	54659	exon1			TTCATGCAAAGGG	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.625C>A	2.37:g.234638397C>A	ENSP00000418532:p.Gln209Lys	Somatic	284	0		WXS	Illumina GAIIx	Phase_I	215	50	NM_019093	0	0	0	0	0	B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	17.39	3.377797	0.61735	.	.	ENSG00000243135	ENST00000482026	T	0.60424	0.19	3.98	0.736	0.18307	.	.	.	.	.	T	0.75939	0.3918	M	0.91140	3.18	0.35864	D	0.827742	P;P	0.46578	0.88;0.88	P;P	0.56216	0.794;0.794	D	0.84783	0.0774	9	0.87932	D	0	.	14.4729	0.67529	0.0:0.5818:0.4182:0.0	.	209;209	Q5DT01;P35503	.;UD13_HUMAN	K	209	ENSP00000418532:Q209K	ENSP00000418532:Q209K	Q	+	1	0	UGT1A3	234303136	0.024000	0.19004	0.891000	0.34965	0.769000	0.43574	0.412000	0.21131	0.131000	0.18576	0.585000	0.79938	CAA	.		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		A	234638397	C	A	234638397	3	1	9	1	0	0	0	0	1	0	0	0	16995	711	25	3	627	3	UGT1A3	2	234638397	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	293423	234638397	8560976	98	1685											
COL6A3	1293	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	238275811	238275811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccacttggatggagtcGccatcttcataaactgtgtc	9	12	2	0	rs140516220		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr2:238275811G>A	ENST00000295550.4	-	11	5471	c.5019C>T	c.(5017-5019)ggC>ggT	p.G1673G	COL6A3_ENST00000409809.1_Silent_p.G1467G|COL6A3_ENST00000353578.4_Silent_p.G1467G|COL6A3_ENST00000472056.1_Silent_p.G1066G|COL6A3_ENST00000347401.3_Silent_p.G1472G|COL6A3_ENST00000346358.4_Silent_p.G1473G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1673	Nonhelical region.|VWFA 9. {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)		GGATGGAGTCGCCATCTTCAT	0.473																																					p.G1673G		.											.	COL6A3-526	0			c.C5019T						.	G	,,	0,4406		0,0,2203	77	67	70		5019,3198,4401	-11	0	2	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1673/3178,1066/2571,1467/2972	238275811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon11			GGAGTCGCCATCT	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.5019C>T	2.37:g.238275811G>A		Somatic	145	1		WXS	Illumina GAIIx	Phase_I	109	19	NM_004369	0	0	1	1	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			G|1.000;A|0.000		0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238275811	G	A	238275811	2	1	9	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL6A3	2	238275811	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3637414	238275811	4923562	99	1686											
IRAK2	3656	hgsc.bcm.edu;bcgsc.ca	37	chr3	10255048	10255048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtctacagagggcacaGgcacgggaagccattcgtct	13	11	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:10255048G>T	ENST00000256458.4	+	5	776	c.686G>T	c.(685-687)aGg>aTg	p.R229M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	229	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						AGAGGGCACAGGCACGGGAAG	0.552																																					p.R229M		.											.	IRAK2-574	0			c.G686T						.						65	63	63					3																	10255048		2203	4300	6503	SO:0001583	missense	3656	exon5			GGCACAGGCACGG	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.686G>T	3.37:g.10255048G>T	ENSP00000256458:p.Arg229Met	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_001570	0	0	1	1	0	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	3.912	-0.019832	0.07634	.	.	ENSG00000134070	ENST00000256458	T	0.66638	-0.22	5.48	2.67	0.31697	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.303860	0.28606	N	0.014744	T	0.62744	0.2453	N	0.21240	0.645	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.51576	-0.8688	10	0.21540	T	0.41	-10.4501	5.3987	0.16283	0.1694:0.0:0.6708:0.1598	.	229	O43187	IRAK2_HUMAN	M	229	ENSP00000256458:R229M	ENSP00000256458:R229M	R	+	2	0	IRAK2	10230048	0.234000	0.23783	0.001000	0.08648	0.020000	0.10135	1.609000	0.36858	0.345000	0.23873	0.655000	0.94253	AGG	.		0.552	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			T	10255048	G	T	10255048	3	4	9	1	0	0	0	0	1	0	0	0	7850	1000	35	3	704	3	IRAK2	3	10255048	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		10255048	187767382	100	1687											
GADL1	339896	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	30875737	30875737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcagaagcttgcggtGcttcctcgacatcaaagctg	11	12	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:30875737G>T	ENST00000282538.5	-	10	1090	c.940C>A	c.(940-942)Cac>Aac	p.H314N	GADL1_ENST00000454381.3_Missense_Mutation_p.H314N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	314					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						AGCTTGCGGTGCTTCCTCGAC	0.428																																					p.H314N		.											.	GADL1-90	0			c.C940A						.						104	106	105					3																	30875737		2203	4300	6503	SO:0001583	missense	339896	exon10			TGCGGTGCTTCCT	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.940C>A	3.37:g.30875737G>T	ENSP00000282538:p.His314Asn	Somatic	153	2		WXS	Illumina GAIIx	Phase_I	115	13	NM_207359	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029110	0.75504	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38401	1.14;1.14	5.49	3.7	0.42460	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.174235	0.48286	D	0.000181	T	0.60560	0.2278	M	0.86953	2.85	0.34778	D	0.734441	D	0.53885	0.963	D	0.70487	0.969	T	0.71444	-0.4591	10	0.62326	D	0.03	-11.6842	8.7644	0.34694	0.2264:0.0:0.7736:0.0	.	314	Q6ZQY3	GADL1_HUMAN	N	314	ENSP00000282538:H314N;ENSP00000427059:H314N	ENSP00000282538:H314N	H	-	1	0	GADL1	30850741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.918000	0.40006	0.693000	0.31634	0.655000	0.94253	CAC	.		0.428	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30875737	G	T	30875737	3	4	9	1	0	0	0	0	1	0	0	0	6209	1319	46	3	649	3	GADL1	3	30875737	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	20620689	30875737	167146693	101	1688											
TTC21A	199223	bcgsc.ca	37	chr3	39156157	39156157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacttcagggagcttcCtgccagccctcgtcctgaag	11	14	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:39156157C>A	ENST00000431162.2	+	6	774	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	TTC21A_ENST00000301819.6_Missense_Mutation_p.L214M|TTC21A_ENST00000440121.1_Missense_Mutation_p.L173M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	214										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)		AGGGAGCTTCCTGCCAGCCCT	0.547																																					p.L214M		.											.	TTC21A-91	0			c.C640A						.						111	110	110					3																	39156157		2031	4180	6211	SO:0001583	missense	199223	exon6			AGCTTCCTGCCAG	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.640C>A	3.37:g.39156157C>A	ENSP00000398211:p.Leu214Met	Somatic	163	3		WXS	Illumina GAIIx	Phase_I	126	33	NM_145755	0	0	2	2	0	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537846	0.45176	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.36157	1.27;1.27;2.07	5.0	3.01	0.34805	Tetratricopeptide-like helical (1);	0.222920	0.27323	N	0.019888	T	0.47967	0.1474	M	0.69823	2.125	0.32363	N	0.556937	D;D;D;D;D	0.61080	0.984;0.989;0.989;0.981;0.989	P;P;P;P;P	0.58873	0.847;0.847;0.847;0.708;0.847	T	0.56263	-0.8008	10	0.33940	T	0.23	-10.4614	7.4225	0.27079	0.2285:0.6742:0.0:0.0973	.	173;214;214;214;214	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	M	214;214;214;173	ENSP00000301819:L214M;ENSP00000398211:L214M;ENSP00000410882:L173M	ENSP00000301819:L214M	L	+	1	2	TTC21A	39131161	0.915000	0.31059	1.000000	0.80357	0.404000	0.30871	-0.058000	0.11750	1.104000	0.41587	-0.258000	0.10820	CTG	.		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39156157	C	A	39156157	3	1	9	1	0	0	0	0	1	0	0	0	16736	680	24	3	662	3	TTC21A	3	39156157	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8280420	39156157	158866273	102	1689											
LARS2	23395	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	45589017	45589017	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcaacttcctggtgcaaGattgacagccaggaggctgc	11	11	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:45589017G>T	ENST00000415258.1	+	21	2848	c.2707G>T	c.(2707-2709)Gat>Tat	p.D903Y	LARS2_ENST00000265537.3_Missense_Mutation_p.D903Y|LARS2_ENST00000414984.1_Missense_Mutation_p.D860Y			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	903					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)	CCTGGTGCAAGATTGACAGCC	0.577																																					p.D903Y		.											.	LARS2-92	0			c.G2707T						.						82	80	81					3																	45589017		2203	4300	6503	SO:0001583	missense	23395	exon22			GTGCAAGATTGAC	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.2707G>T	3.37:g.45589017G>T	ENSP00000408576:p.Asp903Tyr	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	94	18	NM_015340	0	0	12	15	3		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119574	0.56505	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.23950	1.88;1.88;1.9	5.47	5.47	0.80525	.	0.221842	0.45867	D	0.000327	T	0.26195	0.0639	L	0.36672	1.1	0.49051	D	0.999741	P;P	0.44195	0.828;0.828	B;B	0.40101	0.319;0.319	T	0.03945	-1.0990	10	0.87932	D	0	-14.1018	19.3305	0.94285	0.0:0.0:1.0:0.0	.	860;903	E9PHM2;Q15031	.;SYLM_HUMAN	Y	903;903;860	ENSP00000265537:D903Y;ENSP00000408576:D903Y;ENSP00000412893:D860Y	ENSP00000265537:D903Y	D	+	1	0	LARS2	45564021	1.000000	0.71417	0.993000	0.49108	0.111000	0.19643	9.230000	0.95299	2.562000	0.86427	0.563000	0.77884	GAT	.		0.577	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		T	45589017	G	T	45589017	3	4	9	1	0	0	0	0	1	0	0	0	8663	942	33	3	2785	3	LARS2	3	45589017	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6432860	45589017	152433413	103	1690											
SETD2	29072	broad.mit.edu;bcgsc.ca	37	chr3	47161746	47161746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttgcttggcacattccttCcatcgctgtgggtccctgaa	9	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:47161746C>A	ENST00000409792.3	-	3	4422	c.4380G>T	c.(4378-4380)tgG>tgT	p.W1460C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1460					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)			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)		CACATTCCTTCCATCGCTGTG	0.448			"N, F, S, Mis"		clear cell renal carcinoma																																p.W1460C		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	SETD2-1273	0			c.G4380T						.						142	134	136					3																	47161746		2203	4300	6503	SO:0001583	missense	29072	exon3			TTCCTTCCATCGC	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.4380G>T	3.37:g.47161746C>A	ENSP00000386759:p.Trp1460Cys	Somatic	90	2		WXS	Illumina GAIIx	Phase_I	60	24	NM_014159	0	0	3	5	2	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477161	0.63849	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.90197	-2.63	5.18	5.18	0.71444	.	0.000000	0.52532	D	0.000064	D	0.94463	0.8218	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94657	0.7844	10	0.72032	D	0.01	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	1460;1460	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1460	ENSP00000386759:W1460C	ENSP00000386759:W1460C	W	-	3	0	SETD2	47136750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.644000	0.83416	2.690000	0.91761	0.563000	0.77884	TGG	.		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47161746	C	A	47161746	3	1	9	1	0	0	0	0	1	0	0	0	14176	856	30	3	3390	3	SETD2	3	47161746	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1572729	47161746	150860684	104	1691											
PTPN23	25930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	47454406	47454406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcttcctccccgccccccCtttcctccccactacctgag	3	24	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:47454406C>A	ENST00000265562.4	+	25	4719	c.4642C>A	c.(4642-4644)Ctt>Att	p.L1548I	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1422I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1548	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCGCCCCCCCTTTCCTCCCC	0.701																																					p.L1548I		.											.	PTPN23-227	0			c.C4642A						.						18	20	19					3																	47454406		2193	4289	6482	SO:0001583	missense	25930	exon25			CCCCCCCTTTCCT	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4642C>A	3.37:g.47454406C>A	ENSP00000265562:p.Leu1548Ile	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	30	16	NM_015466	0	0	0	1	1	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.491596	0.01009	.	.	ENSG00000076201	ENST00000265562	T	0.02525	4.26	4.2	3.31	0.37934	.	0.763966	0.11226	N	0.586144	T	0.01870	0.0059	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49173	-0.8967	10	0.17832	T	0.49	-1.9585	4.9923	0.14220	0.3796:0.521:0.0:0.0994	.	1548	Q9H3S7	PTN23_HUMAN	I	1548	ENSP00000265562:L1548I	ENSP00000265562:L1548I	L	+	1	0	PTPN23	47429410	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.757000	0.26433	0.940000	0.37473	-0.311000	0.09066	CTT	.		0.701	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		A	47454406	C	A	47454406	3	1	9	1	0	0	0	0	1	0	0	0	12833	681	24	3	4740	3	PTPN23	3	47454406	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	292660	47454406	150568024	105	1692											
COL7A1	1294	broad.mit.edu;bcgsc.ca	37	chr3	48632594	48632594	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagccgcagcgtcatcCtaggcagtaaaagccgtcag	11	13	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:48632594C>A	ENST00000328333.8	-	0	106				COL7A1_ENST00000454817.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						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)		CAGCGTCATCCTAGGCAGTAA	0.706																																					.		.											.	COL7A1-160	0			.						.						8	12	11					3																	48632594		2120	4140	6260			1294	.			GTCATCCTAGGCA	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		3.37:g.48632594C>A		Somatic	65	1		WXS	Illumina GAIIx	Phase_I	125	21	.	0	0	0	0	0	Q14054|Q16507	Translation_Start_Site	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																			.		0.706	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48632594	C	A	48632594	1	1	9	1	0	1	0	0	0	0	0	0	3711	696	24	3		3	COL7A1	3	48632594	De_novo_Start_InFrame	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1178188	48632594	149389836	106	1693											
USP19	10869	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	49147976	49147976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggttgatgacagcatataGatcgtagctgggcagctgct	14	7	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:49147976G>T	ENST00000398888.2	-	24	3769	c.3451C>A	c.(3451-3453)Cta>Ata	p.L1151I	USP19_ENST00000453664.1_Missense_Mutation_p.L1242I|USP19_ENST00000434032.2_Missense_Mutation_p.L1252I|USP19_ENST00000398898.2_Missense_Mutation_p.L1191I|USP19_ENST00000398896.1_Missense_Mutation_p.L959I|USP19_ENST00000417901.1_Missense_Mutation_p.L1254I|USP19_ENST00000398892.3_Missense_Mutation_p.L1191I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1151	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCATATAGATCGTAGCTG	0.567																																					p.L1254I		.											.	USP19-663	0			c.C3760A						.						69	71	71					3																	49147976		2146	4255	6401	SO:0001583	missense	10869	exon25			CATATAGATCGTA	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3451C>A	3.37:g.49147976G>T	ENSP00000381863:p.Leu1151Ile	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	100	18	NM_001199161	0	0	24	27	3	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314868	0.60524	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.27	4.39	0.52855	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	D	0.89550	0.6747	M	0.90705	3.14	0.47862	D	0.999534	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.994;0.999	D	0.91542	0.5250	10	0.87932	D	0	-12.3728	13.8316	0.63384	0.0737:0.0:0.9263:0.0	.	1252;1242;1151;1191;959	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	I	959;1191;1254;1242;1191;1151;1252	ENSP00000381870:L959I;ENSP00000381872:L1191I;ENSP00000395260:L1254I;ENSP00000400090:L1242I;ENSP00000381867:L1191I;ENSP00000381863:L1151I;ENSP00000401197:L1252I	ENSP00000381863:L1151I	L	-	1	2	USP19	49122980	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.212000	0.51145	1.355000	0.45865	0.561000	0.74099	CTA	.		0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		T	49147976	G	T	49147976	3	4	9	1	0	0	0	0	1	0	0	0	17099	933	33	3	517	3	USP19	3	49147976	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	515382	49147976	148874454	107	1694											
MST1	327	bcgsc.ca	37	chr3	49722288	49722288	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggaacagggtgcccaacCatacctcatagcccgtgaga	10	13	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:49722288C>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.W551L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTGCCCAACCATACCTCATA	0.572																																					p.W551L		.											.	MST1-278	0			c.G1652T						.						43	43	43					3																	49722288		2203	4298	6501	SO:0001628	intergenic_variant	4485	exon15			CCCAACCATACCT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722288C>A		Somatic	258	3		WXS	Illumina GAIIx	Phase_I	270	27	NM_020998	0	0	23	23	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327109	0.41197	.	.	ENSG00000173531	ENST00000449682	D	0.88124	-2.34	5.5	5.5	0.81552	.	0.000000	0.38005	N	0.001852	T	0.67496	0.2899	N	0.02736	-0.51	0.80722	D	1	B	0.31625	0.332	B	0.29176	0.099	T	0.66806	-0.5830	10	0.23891	T	0.37	.	7.3987	0.26952	0.1681:0.7477:0.0:0.0842	.	551	G3XAK1	.	L	551	ENSP00000414287:W551L	ENSP00000414287:W551L	W	-	2	0	MST1	49697292	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.785000	0.47782	2.567000	0.86603	0.563000	0.77884	TGG	.		0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49722288	C	A	49722288	1	1	9	0	1	0	0	0	0	0	0	0	9928	595	21	3		3	MST1	3	49722288	IGR	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	574312	49722288	148300142	108	1695											
SLC38A3	10991	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	50256024	50256024	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccctccctgcctgccacaGacggggtggagtcggagctg	14	15	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:50256024G>T	ENST00000420502.1	+	0	1189									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCCTGCCACAGACGGGGTGGA	0.632																																					.		.											.	SLC38A3-67	0			c.1037-1G>T						.						45	51	49					3																	50256024		2140	4243	6383			10991	exon13			GCCACAGACGGGG	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50256024G>T		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	81	16	NM_006841	0	0	0	0	0		Splice_Site	SNP	ENST00000420502.1	37																																																																																				.		0.632	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		T	50256024	G	T	50256024	1	4	9	0	1	0	0	0	0	0	0	0	14650	956	33	3		3	SLC38A3	3	50256024	RNA	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	533736	50256024	147766406	109	1696											
PBRM1	55193	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52643651	52643651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactttgtgtagaacaagagCatctttgtagatcaaagact	9	6	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:52643651C>A	ENST00000296302.7	-	16	2246	c.2245G>T	c.(2245-2247)Gct>Tct	p.A749S	PBRM1_ENST00000409767.1_Missense_Mutation_p.A764S|PBRM1_ENST00000410007.1_Missense_Mutation_p.A749S|PBRM1_ENST00000409114.3_Missense_Mutation_p.A764S|PBRM1_ENST00000409057.1_Missense_Mutation_p.A749S|PBRM1_ENST00000337303.4_Missense_Mutation_p.A749S|PBRM1_ENST00000356770.4_Missense_Mutation_p.A717S|PBRM1_ENST00000394830.3_Missense_Mutation_p.A749S			Q86U86	PB1_HUMAN	polybromo 1	749					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.K747fs*23(2)|p.K715fs*23(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)		AGAACAAGAGCATCTTTGTAG	0.418			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.A749S		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1-575	3	Deletion - Frameshift(3)	kidney(3)	c.G2245T						.						109	107	108					3																	52643651		2203	4300	6503	SO:0001583	missense	55193	exon17			CAAGAGCATCTTT	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.2245G>T	3.37:g.52643651C>A	ENSP00000296302:p.Ala749Ser	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	103	14	NM_018313	0	0	3	3	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	32	5.185638	0.94885	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.72576	2.205	0.80722	D	1	D;D;D;P;P;D;D;D;P;D;D	0.89917	0.999;0.996;0.993;0.933;0.74;0.997;0.996;1.0;0.835;0.996;0.996	D;D;D;D;P;D;D;D;P;D;D	0.91635	0.999;0.991;0.989;0.93;0.824;0.998;0.997;0.999;0.746;0.997;0.997	T	0.66300	-0.5958	10	0.72032	D	0.01	-24.7671	20.8794	0.99867	0.0:1.0:0.0:0.0	.	749;124;749;749;749;749;764;764;749;717;749	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	S	717;749;749;749;749;749;764;764;749;708	ENSP00000349213:A717S;ENSP00000378307:A749S;ENSP00000296302:A749S;ENSP00000338302:A749S;ENSP00000386593:A749S;ENSP00000386529:A749S;ENSP00000386643:A764S;ENSP00000386601:A764S;ENSP00000387775:A749S;ENSP00000397662:A708S	ENSP00000296302:A749S	A	-	1	0	PBRM1	52618691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	GCT	.		0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643651	C	A	52643651	3	1	9	1	0	0	0	0	1	0	0	0	11530	710	25	3	2715	3	PBRM1	3	52643651	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2387627	52643651	145378779	110	1697											
ITIH3	3699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52841088	52841088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtgccgagcactttcaGctggctggacacagtcacag	13	13	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:52841088G>T	ENST00000449956.2	+	19	2234	c.2228G>T	c.(2227-2229)aGc>aTc	p.S743I	ITIH3_ENST00000416872.2_Missense_Mutation_p.S551I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	743					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCACTTTCAGCTGGCTGGAC	0.557																																					p.S743I		.											.	ITIH3-93	0			c.G2228T						.						27	30	29					3																	52841088		2014	4168	6182	SO:0001583	missense	3699	exon19			CTTTCAGCTGGCT		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2228G>T	3.37:g.52841088G>T	ENSP00000415769:p.Ser743Ile	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	134	24	NM_002217	0	0	2	3	1	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880667	0.33255	.	.	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.12984	2.63;2.63	5.09	3.22	0.36961	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.289573	0.33792	N	0.004547	T	0.38401	0.1039	M	0.85197	2.74	0.28610	N	0.908734	D;P	0.71674	0.998;0.573	D;P	0.68943	0.961;0.598	T	0.34204	-0.9838	10	0.51188	T	0.08	-25.7014	13.3189	0.60423	0.0:0.3653:0.6347:0.0	.	551;743	E7ET33;Q06033	.;ITIH3_HUMAN	I	738;551;743	ENSP00000413922:S551I;ENSP00000415769:S743I	ENSP00000273291:S738I	S	+	2	0	ITIH3	52816128	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.860000	0.27871	1.131000	0.42111	0.555000	0.69702	AGC	.		0.557	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52841088	G	T	52841088	3	4	9	1	0	0	0	0	1	0	0	0	7932	971	34	3	2302	3	ITIH3	3	52841088	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	197437	52841088	145181342	111	1698											
C3orf63	23272	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	56702515	56702515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgctttggtgtggggtcCaaagcactcttatttaacat	9	8	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:56702515C>A	ENST00000493960.2	-	6	817	c.807G>T	c.(805-807)ttG>ttT	p.L269F	FAM208A_ENST00000355628.5_Missense_Mutation_p.L269F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	269							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTGTGGGGTCCAAAGCACTCT	0.378																																					p.L269F		.											.	.	0			c.G807T						.						165	136	145					3																	56702515		692	1591	2283	SO:0001583	missense	23272	exon6			GGGGTCCAAAGCA	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.807G>T	3.37:g.56702515C>A	ENSP00000417509:p.Leu269Phe	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	97	52	NM_001112736	0	0	0	2	2	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363515	0.41902	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.53206	0.63;0.63	5.69	5.69	0.88448	.	.	.	.	.	T	0.64649	0.2617	M	0.71581	2.175	0.49130	D	0.99975	D;P	0.65815	0.995;0.836	P;P	0.60286	0.872;0.626	T	0.67284	-0.5709	9	0.72032	D	0.01	-2.0701	15.0106	0.71547	0.0:0.9302:0.0:0.0698	.	269;269	Q9UK61-3;Q9UK61-4	.;.	F	269	ENSP00000417509:L269F;ENSP00000347845:L269F	ENSP00000347845:L269F	L	-	3	2	C3orf63	56677555	0.999000	0.42202	1.000000	0.80357	0.021000	0.10359	0.552000	0.23376	2.679000	0.91253	0.650000	0.86243	TTG	.		0.378	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		A	56702515	C	A	56702515	3	1	9	1	0	0	0	0	1	0	0	0	2246	593	21	3	4341	3	C3orf63	3	56702515	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3861427	56702515	141319915	112	1699											
FAM116A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	57616535	57616535	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcttctggaagaaactgtCttaattgaggtggactctag	10	6	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:57616535C>A	ENST00000311128.5	-	17	1494	c.1424G>T	c.(1423-1425)aGa>aTa	p.R475I	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	475					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAGAAACTGTCTTAATTGAGG	0.358																																					p.R475I		.											.	.	0			c.G1424T						.						77	76	76					3																	57616535		2203	4300	6503	SO:0001583	missense	201627	exon17			AACTGTCTTAATT	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1424G>T	3.37:g.57616535C>A	ENSP00000311401:p.Arg475Ile	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	29	6	NM_152678	0	0	0	0	0	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.056587|3.056587	0.55325|0.55325	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.088385	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.52577	.|0.954	.|P	.|0.48425	.|0.577	T|T	0.62220|0.62220	-0.6900|-0.6900	5|9	.|0.33940	.|T	.|0.23	-20.1004|-20.1004	10.6777|10.6777	0.45796|0.45796	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	.|475	.|Q8IWF6	.|F116A_HUMAN	N|I	46|475	.|.	.|ENSP00000311401:R475I	K|R	-|-	3|2	2|0	FAM116A|FAM116A	57591575|57591575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.033000|3.033000	0.49743|0.49743	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	AAG|AGA	.		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		A	57616535	C	A	57616535	3	1	9	1	0	0	0	0	1	0	0	0	5426	913	32	3	418	3	FAM116A	3	57616535	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	914020	57616535	140405895	113	1700											
FLNB	2317	broad.mit.edu	37	chr3	58145372	58145372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaaaggtgcacagcccctCtggagccgtggaggagtgcc	15	12	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:58145372C>A	ENST00000295956.4	+	42	7145	c.6980C>A	c.(6979-6981)tCt>tAt	p.S2327Y	FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Missense_Mutation_p.S2303Y|FLNB_ENST00000348383.5_Missense_Mutation_p.S2286Y|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000419752.2_Missense_Mutation_p.S2147Y|FLNB_ENST00000429972.2_Missense_Mutation_p.S2316Y|FLNB_ENST00000490882.1_Missense_Mutation_p.S2358Y|FLNB_ENST00000493452.1_Missense_Mutation_p.S2134Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2327	Interaction with INPPL1.				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)		CACAGCCCCTCTGGAGCCGTG	0.547																																					p.S2358Y		.											.	FLNB-593	0			c.C7073A						.						36	38	37					3																	58145372		2203	4300	6503	SO:0001583	missense	2317	exon43			GCCCCTCTGGAGC	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.6980C>A	3.37:g.58145372C>A	ENSP00000295956:p.Ser2327Tyr	Somatic	52	2		WXS	Illumina GAIIx	Phase_I	36	8	NM_001164317	0	0	78	100	22	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796885	0.90453	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.86	5.86	0.93980	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049195	0.85682	D	0.000000	D	0.94417	0.8204	H	0.95114	3.625	0.58432	D	0.999999	P;D;D;D;D;D	0.67145	0.947;0.996;0.98;0.996;0.98;0.98	P;D;D;D;D;D	0.74023	0.894;0.982;0.953;0.94;0.953;0.953	D	0.95404	0.8492	10	0.87932	D	0	.	14.4091	0.67103	0.0:0.9301:0.0:0.0699	.	2303;2358;2134;2147;2316;2327	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	2327;2358;2303;2316;2286;2134;2147	ENSP00000295956:S2327Y;ENSP00000420213:S2358Y;ENSP00000351339:S2303Y;ENSP00000415599:S2316Y;ENSP00000232447:S2286Y;ENSP00000418510:S2134Y;ENSP00000414532:S2147Y	ENSP00000295956:S2327Y	S	+	2	0	FLNB	58120412	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	6.083000	0.71326	2.784000	0.95788	0.644000	0.83932	TCT	.		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58145372	C	A	58145372	3	1	9	1	0	0	0	0	1	0	0	0	5956	913	32	3	7243	3	FLNB	3	58145372	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	528837	58145372	139877058	114	1701											
EPHA6	285220	ucsc.edu;bcgsc.ca	37	chr3	96706665	96706665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggccatgtttcctgatacCattccaagggttgattcctc	8	11	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:96706665C>A	ENST00000389672.5	+	3	980	c.942C>A	c.(940-942)acC>acA	p.T314T	EPHA6_ENST00000542517.1_Silent_p.T220T|EPHA6_ENST00000470610.2_Silent_p.T314T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	220						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCTGATACCATTCCAAGGG	0.473																																					p.T314T		.											.	EPHA6-1561	0			c.C942A						.						213	215	214					3																	96706665		1982	4175	6157	SO:0001819	synonymous_variant	285220	exon3			TGATACCATTCCA	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.942C>A	3.37:g.96706665C>A		Somatic	181	2		WXS	Illumina GAIIx	Phase_I	104	50	NM_001080448	0	0	0	0	0	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660765	0.14645	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.47	0.308	0.15815	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52997	-0.8500	4	.	.	.	.	10.1929	0.43037	0.0:0.4959:0.0:0.5041	.	.	.	.	N	259	.	.	H	+	1	0	EPHA6	98189355	0.034000	0.19679	1.000000	0.80357	0.998000	0.95712	-0.945000	0.03909	0.216000	0.20781	0.650000	0.86243	CAT	.		0.473	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		A	96706665	C	A	96706665	2	1	9	1	0	0	0	0	0	0	0	1	5187	581	21	3		3	EPHA6	3	96706665	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	38561293	96706665	101315765	115	1702											
EPHA6	285220	broad.mit.edu;bcgsc.ca	37	chr3	97194260	97194260	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accgccgctgttggcggattCactctcctcgtcatcctcac	8	17	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:97194260C>A	ENST00000514100.1	+	5	377	c.135C>A	c.(133-135)ttC>ttA	p.F45L	EPHA6_ENST00000502694.1_Missense_Mutation_p.F45L|EPHA6_ENST00000389672.5_Missense_Mutation_p.F653L|EPHA6_ENST00000442602.2_Missense_Mutation_p.F19L	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	559	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGCGGATTCACTCTCCTCG	0.418																																					p.F653L		.											.	EPHA6-1561	0			c.C1959A						.						85	87	86					3																	97194260		1922	4131	6053	SO:0001583	missense	285220	exon8			CGGATTCACTCTC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.135C>A	3.37:g.97194260C>A	ENSP00000421711:p.Phe45Leu	Somatic	75	2		WXS	Illumina GAIIx	Phase_I	56	21	NM_001080448	0	0	0	0	0	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	C	14.15	2.448184	0.43429	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	6.07	4.3	0.51218	.	.	.	.	.	T	0.11665	0.0284	N	0.20401	0.57	0.45899	D	0.998746	D;P;D;D	0.71674	0.998;0.495;0.99;0.998	D;B;D;D	0.73380	0.978;0.122;0.979;0.98	T	0.31998	-0.9923	9	0.10636	T	0.68	.	8.9537	0.35805	0.0:0.7196:0.0:0.2804	.	19;558;45;45	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	L	653;45;45;19	ENSP00000374323:F653L;ENSP00000421711:F45L;ENSP00000423950:F45L;ENSP00000403100:F19L	ENSP00000374323:F653L	F	+	3	2	EPHA6	98676950	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	2.117000	0.41939	0.908000	0.36671	0.655000	0.94253	TTC	.		0.418	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		A	97194260	C	A	97194260	3	1	9	1	0	0	0	0	1	0	0	0	5187	825	29	3	2057	3	EPHA6	3	97194260	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	487595	97194260	100828170	116	1703											
ATG3	64422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	112257000	112257000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttacaaacctcatctGtttccaacaatccactctct	1	14	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:112257000G>T	ENST00000283290.5	-	8	937	c.503C>A	c.(502-504)aCa>aAa	p.T168K	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.T168K	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	168					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AACCTCATCTGTTTCCAACAA	0.269																																					p.T168K		.											.	ATG3-93	0			c.C503A						.						35	35	35					3																	112257000		2185	4270	6455	SO:0001583	missense	64422	exon8			TCATCTGTTTCCA		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.503C>A	3.37:g.112257000G>T	ENSP00000283290:p.Thr168Lys	Somatic	183	2		WXS	Illumina GAIIx	Phase_I	119	21	NM_022488	0	0	0	0	0	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173063	0.57584	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.69	5.69	0.88448	.	0.093323	0.85682	D	0.000000	T	0.45558	0.1348	L	0.43152	1.355	0.52099	D	0.999947	P;B;B	0.41848	0.763;0.053;0.074	B;B;B	0.39738	0.308;0.158;0.098	T	0.30504	-0.9976	9	0.21540	T	0.41	-10.4916	14.6411	0.68726	0.0:0.0:0.8545:0.1455	.	81;168;168	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	K	168;168;81	.	ENSP00000283290:T168K	T	-	2	0	ATG3	113739690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	2.676000	0.91093	0.563000	0.77884	ACA	.		0.269	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		T	112257000	G	T	112257000	3	4	9	1	0	0	0	0	1	0	0	0	1096	1377	48	3	461	3	ATG3	3	112257000	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	15062740	112257000	85765430	117	1704											
LRRC58	116064	hgsc.bcm.edu	37	chr3	120068022	120068022	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccagcgtctcggtggaCacgctgaggcgggaccagtt	15	12	1	1	rs6770482	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:120068022C>G	ENST00000295628.3	-	1	164	c.69G>C	c.(67-69)gtG>gtC	p.V23V	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	23										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTCGGTGGACACGCTGAGGC	0.741													C|||	1050	0.209665	0.3933	0.2968	5008	,	,		12008	0.0962		0.0755	False		,,,				2504	0.1544				p.V23V		.											.	.	0			c.G69C						.	C		576,2498		28,520,989	2	2	2		69	4.5	1	3	dbSNP_116	2	392,6042		8,376,2833	no	coding-synonymous	LRRC58	NM_001099678.1		36,896,3822	GG,GC,CC		6.0926,18.7378,10.1809		23/372	120068022	968,8540	1537	3217	4754	SO:0001819	synonymous_variant	116064	exon1			GGTGGACACGCTG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.69G>C	3.37:g.120068022C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			C|0.826;G|0.174		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		G	120068022	C	G	120068022	2	3	9	1	0	0	0	0	0	0	0	1	9049	465	17	3		3	LRRC58	3	120068022	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7811022	120068022	77954408	118	1705											
POLQ	10721	ucsc.edu;bcgsc.ca	37	chr3	121178920	121178920	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgcctgctgcctcagatCatccccaacagactctggct	7	15	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:121178920C>A	ENST00000264233.5	-	25	7257	c.7129G>T	c.(7129-7131)Gat>Tat	p.D2377Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2377					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCTCAGATCATCCCCAACA	0.393								DNA polymerases (catalytic subunits)																													p.D2377Y	Pancreas(152;907 1925 26081 31236 36904)	.											.	POLQ-664	0			c.G7129T						.						146	134	138					3																	121178920		2203	4300	6503	SO:0001583	missense	10721	exon25			TCAGATCATCCCC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7129G>T	3.37:g.121178920C>A	ENSP00000264233:p.Asp2377Tyr	Somatic	212	3		WXS	Illumina GAIIx	Phase_I	120	25	NM_199420	0	0	3	3	0	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995804	0.54147	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96774	-4.12	5.07	2.15	0.27550	DNA-directed DNA polymerase, family A, palm domain (2);	0.822517	0.11702	N	0.537872	D	0.96093	0.8727	L	0.53561	1.675	0.23168	N	0.998188	P;D	0.61080	0.884;0.989	P;P	0.59643	0.715;0.861	D	0.89301	0.3626	10	0.87932	D	0	.	5.573	0.17208	0.0:0.5517:0.1383:0.31	.	2377;1549	O75417;O75417-2	DPOLQ_HUMAN;.	Y	2000;2377;2513	ENSP00000264233:D2377Y	ENSP00000264233:D2377Y	D	-	1	0	POLQ	122661610	0.003000	0.15002	0.993000	0.49108	0.953000	0.61014	0.081000	0.14823	0.707000	0.31934	0.591000	0.81541	GAT	.		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121178920	C	A	121178920	3	1	9	1	0	0	0	0	1	0	0	0	12247	826	29	3	667	3	POLQ	3	121178920	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1110898	121178920	76843510	119	1706											
CASR	846	broad.mit.edu	37	chr3	121976121	121976121	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgattctttgaaccttgatGagttctgcaactgctcagag	9	8	3	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:121976121G>T	ENST00000490131.1	+	3	751	c.379G>T	c.(379-381)Gag>Tag	p.E127*	CASR_ENST00000498619.1_Nonsense_Mutation_p.E127*|CASR_ENST00000296154.5_Nonsense_Mutation_p.E127*	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	127			E -> A (in HYPOC1). {ECO:0000269|PubMed:7874174}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAACCTTGATGAGTTCTGCAA	0.493																																					p.E127X		.											.	CASR-97	0			c.G379T	GRCh37	CM013356	CASR	M		.						118	113	115					3																	121976121		2203	4300	6503	SO:0001587	stop_gained	846	exon3			CTTGATGAGTTCT	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.379G>T	3.37:g.121976121G>T	ENSP00000418685:p.Glu127*	Somatic	91	2		WXS	Illumina GAIIx	Phase_I	78	15	NM_001178065	0	0	0	0	0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Nonsense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614704	0.96649	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.936	0.92586	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	ENSP00000296154:E127X	E	+	1	0	CASR	123458811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.712000	0.92718	0.591000	0.81541	GAG	.		0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	121976121	G	T	121976121	4	4	9	1	0	0	0	0	0	1	0	0	2689	1291	45	3	385	3	CASR	3	121976121	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	797201	121976121	76046309	120	1707											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733053	126733053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcccggccctgcgCgagagctgcggcctctgcct	13	16	1	1	rs11719489	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18	21	20		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	37	NM_032242	0	0	0	1	1		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733053	C	T	126733053	2	4	9	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLXNA1	3	126733053	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4756932	126733053	71289377	121	1708											
BFSP2	8419	broad.mit.edu	37	chr3	133169164	133169164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggatgtgaagctgctgcaCaaacagttggcagggtgtga	15	7	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:133169164C>A	ENST00000302334.2	+	4	836	c.747C>A	c.(745-747)caC>caA	p.H249Q	BFSP2-AS1_ENST00000515542.1_RNA|BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	249	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGCTGCTGCACAAACAGTTGG	0.468																																					p.H249Q		.											.	BFSP2-90	0			c.C747A						.						111	101	105					3																	133169164		2203	4300	6503	SO:0001583	missense	8419	exon4			GCTGCACAAACAG	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.747C>A	3.37:g.133169164C>A	ENSP00000304987:p.His249Gln	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	111	3	NM_003571	0	0	0	0	0	Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	2.162	-0.391872	0.04932	.	.	ENSG00000170819	ENST00000302334	D	0.87103	-2.21	5.02	3.12	0.35913	Filament (1);	0.335383	0.25860	N	0.027834	T	0.64538	0.2607	N	0.01277	-0.915	0.23673	N	0.997142	B	0.06786	0.001	B	0.10450	0.005	T	0.55049	-0.8201	10	0.23302	T	0.38	-4.0357	8.3888	0.32516	0.0:0.7455:0.0:0.2545	.	249	Q13515	BFSP2_HUMAN	Q	249	ENSP00000304987:H249Q	ENSP00000304987:H249Q	H	+	3	2	BFSP2	134651854	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	0.710000	0.25748	0.624000	0.30286	-0.221000	0.12465	CAC	.		0.468	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			A	133169164	C	A	133169164	3	1	9	1	0	0	0	0	1	0	0	0	1418	477	17	3	761	3	BFSP2	3	133169164	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6436111	133169164	64853266	122	1709											
PIK3CB	5291	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	138478043	138478043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tataagaaatggtagcttccCgaggtacctccaactggata	9	9	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:138478043C>A	ENST00000477593.1	-	2	216	c.143G>T	c.(142-144)cGg>cTg	p.R48L	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R48L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	48	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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)	GGTAGCTTCCCGAGGTACCTC	0.408																																					p.R48L		.											.	PIK3CB-1311	0			c.G143T						.						61	59	60					3																	138478043		2203	4300	6503	SO:0001583	missense	5291	exon1			GCTTCCCGAGGTA		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.143G>T	3.37:g.138478043C>A	ENSP00000418143:p.Arg48Leu	Somatic	239	1		WXS	Illumina GAIIx	Phase_I	170	22	NM_006219	0	0	0	0	0	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321471	0.81580	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.84	5.84	0.93424	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.73962	2.25	0.80722	D	1	B	0.29646	0.253	B	0.35278	0.199	T	0.68891	-0.5289	10	0.10636	T	0.68	-15.982	20.1551	0.98106	0.0:1.0:0.0:0.0	.	48	P42338	PK3CB_HUMAN	L	48	ENSP00000418143:R48L;ENSP00000289153:R48L;ENSP00000419857:R48L;ENSP00000420399:R48L	ENSP00000289153:R48L	R	-	2	0	PIK3CB	139960733	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.691000	0.68249	2.760000	0.94817	0.655000	0.94253	CGG	.		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			A	138478043	C	A	138478043	3	1	9	1	0	0	0	0	1	0	0	0	11953	652	23	2	3155	2	PIK3CB	3	138478043	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5308879	138478043	59544387	123	1710											
NMNAT3	349565	ucsc.edu;bcgsc.ca	37	chr3	139292460	139292460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggggtcgagaagagtGccttgccatggtctgggcct	16	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:139292460G>T	ENST00000296202.7	-	5	737	c.356C>A	c.(355-357)gCa>gAa	p.A119E	NMNAT3_ENST00000406824.1_Missense_Mutation_p.A9E|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406164.1_Missense_Mutation_p.A82E|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000511444.1_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Intron|NMNAT3_ENST00000339837.5_Missense_Mutation_p.A82E			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	119					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CGAGAAGAGTGCCTTGCCATG	0.537																																					p.A82E		.											.	NMNAT3-90	0			c.C245A						.						218	175	190					3																	139292460		2203	4300	6503	SO:0001583	missense	349565	exon4			AAGAGTGCCTTGC	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.356C>A	3.37:g.139292460G>T	ENSP00000296202:p.Ala119Glu	Somatic	159	2		WXS	Illumina GAIIx	Phase_I	115	51	NM_178177	0	0	0	7	7	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568127	0.03910	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000296202	D;D;D;D	0.97455	-4.17;-3.97;-4.17;-4.39	4.15	1.3	0.21679	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	1.960190	0.01805	N	0.033132	D	0.92499	0.7618	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.19666	0.026	D	0.84620	0.0683	10	0.13108	T	0.6	0.0102	3.8737	0.09047	0.2038:0.0:0.6082:0.188	.	119	Q96T66	NMNA3_HUMAN	E	82;9;82;119	ENSP00000384319:A82E;ENSP00000384684:A9E;ENSP00000340523:A82E;ENSP00000296202:A119E	ENSP00000296202:A119E	A	-	2	0	NMNAT3	140775150	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.611000	0.24268	0.273000	0.22049	0.467000	0.42956	GCA	.		0.537	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		T	139292460	G	T	139292460	3	4	9	1	0	0	0	0	1	0	0	0	10539	1319	46	3	410	3	NMNAT3	3	139292460	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	814417	139292460	58729970	124	1711											
PAQR9	344838	ucsc.edu;bcgsc.ca	37	chr3	142681441	142681441	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgagcggcatgacgaaGacgaaggtgcgcagcgcgaa	16	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:142681441G>T	ENST00000340634.3	-	1	737	c.738C>A	c.(736-738)gtC>gtA	p.V246V	RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	246						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCATGACGAAGACGAAGGTGC	0.632																																					p.V246V		.											.	PAQR9-68	0			c.C738A						.						84	82	83					3																	142681441		2203	4300	6503	SO:0001819	synonymous_variant	344838	exon1			GACGAAGACGAAG	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.738C>A	3.37:g.142681441G>T		Somatic	228	2		WXS	Illumina GAIIx	Phase_I	267	43	NM_198504	0	0	0	0	0	Q147T6	Silent	SNP	ENST00000340634.3	37	CCDS3128.1																																																																																			.		0.632	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		T	142681441	G	T	142681441	2	4	9	1	0	0	0	0	0	0	0	1	11481	929	33	3		3	PAQR9	3	142681441	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3388981	142681441	55340989	125	1712											
ZIC1	7545	hgsc.bcm.edu	37	chr3	147127937	147127937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccagtacccagcgatcgGcgtgaccacctttggcgcgt	11	17	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:147127937G>T	ENST00000282928.4	+	1	767	c.38G>T	c.(37-39)gGc>gTc	p.G13V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	13					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCAGCGATCGGCGTGACCACC	0.761																																					p.G13V		.											.	ZIC1-91	0			c.G38T						.						14	16	16					3																	147127937		2168	4257	6425	SO:0001583	missense	7545	exon1			CGATCGGCGTGAC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.38G>T	3.37:g.147127937G>T	ENSP00000282928:p.Gly13Val	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	28	6	NM_003412	0	0	0	0	0	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227902	0.58777	.	.	ENSG00000152977	ENST00000282928	T	0.26067	1.76	3.36	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.31530	-0.9940	10	0.52906	T	0.07	.	11.6198	0.51111	0.0:0.0:0.8206:0.1794	.	13	Q15915	ZIC1_HUMAN	V	13	ENSP00000282928:G13V	ENSP00000282928:G13V	G	+	2	0	ZIC1	148610627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.348000	0.73009	0.587000	0.29643	0.442000	0.29010	GGC	.		0.761	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		T	147127937	G	T	147127937	3	4	9	1	0	0	0	0	1	0	0	0	17726	1203	42	3	40	3	ZIC1	3	147127937	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4446496	147127937	50894493	126	1713											
CPB1	1360	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	148575243	148575243	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttattcctgtttcttttgcaGaatgccctggctaaagctac	7	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:148575243G>T	ENST00000491148.1	+	11	1315		c.e11-1		CPB1_ENST00000282957.4_Splice_Site|CPB1_ENST00000498639.1_Splice_Site|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTCTTTTGCAGAATGCCCTGG	0.418																																					.		.											.	CPB1-92	0			c.982-1G>T						.						111	102	105					3																	148575243		2203	4300	6503	SO:0001630	splice_region_variant	1360	exon10			TTTGCAGAATGCC	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.982-1G>T	3.37:g.148575243G>T		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	83	7	NM_001871	0	0	3	3	0	O60834|Q53XJ0|Q96BQ8	Splice_Site	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327076	0.24080	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1153	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPB1	150057933	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	8.554000	0.90689	2.857000	0.98124	0.650000	0.86243	.	.		0.418	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	Intron	T	148575243	G	T	148575243	5	4	9	1	0	0	0	0	0	0	1	0	3803	956	33	3	1019	3	CPB1	3	148575243	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1447306	148575243	49447187	127	1714											
TSC22D2	9819	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	150128968	150128968	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccactttctctcattgctGaaaataagcctgttgtgaag	7	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:150128968G>T	ENST00000361875.3	+	1	2847	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	TSC22D2_ENST00000361136.2_Nonsense_Mutation_p.E611*	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	611					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)			TCTCATTGCTGAAAATAAGCC	0.483																																					p.E611X		.											.	TSC22D2-91	0			c.G1831T						.						90	99	96					3																	150128968		2203	4300	6503	SO:0001587	stop_gained	9819	exon1			ATTGCTGAAAATA	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.1831G>T	3.37:g.150128968G>T	ENSP00000354543:p.Glu611*	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	98	35	NM_014779	0	0	1	8	7	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Nonsense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.297019|6.297019	0.97453|0.97453	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136|ENST00000466814	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.109142|.	0.37437|.	N|.	0.002086|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.40728|.	T|.	0.16|.	.|.	18.0862|18.0862	0.89458|0.89458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	84;611;611|58	.|.	ENSP00000354893:E611X|.	E|X	+|+	1|2	0|2	TSC22D2|TSC22D2	151611658|151611658	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	6.372000|6.372000	0.73123|0.73123	2.367000|2.367000	0.80283|0.80283	0.456000|0.456000	0.33151|0.33151	GAA|TGA	.		0.483	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		T	150128968	G	T	150128968	4	4	9	1	0	0	0	0	0	1	0	0	16656	1291	45	3	1833	3	TSC22D2	3	150128968	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1553725	150128968	47893462	128	1715											
PTX3	5806	broad.mit.edu;ucsc.edu	37	chr3	157160724	157160724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatattgttgggtggggaGtcacagagatccagccacat	14	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:157160724G>T	ENST00000295927.3	+	3	1247	c.1102G>T	c.(1102-1104)Gtc>Ttc	p.V368F	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	368	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGGTGGGGAGTCACAGAGAT	0.448																																					p.V368F		.											.	PTX3-514	0			c.G1102T						.						61	67	65					3																	157160724		2203	4300	6503	SO:0001583	missense	5806	exon3			TGGGGAGTCACAG	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.1102G>T	3.37:g.157160724G>T	ENSP00000295927:p.Val368Phe	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	43	4	NM_002852	0	0	1	1	0	B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854206	0.71719	.	.	ENSG00000163661	ENST00000295927	T	0.58797	0.31	5.71	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.238464	0.43110	D	0.000616	T	0.73202	0.3557	M	0.76838	2.35	0.53688	D	0.999973	D	0.71674	0.998	D	0.75484	0.986	T	0.74262	-0.3722	10	0.52906	T	0.07	-34.3478	10.3403	0.43873	0.1453:0.0:0.8547:0.0	.	368	P26022	PTX3_HUMAN	F	368	ENSP00000295927:V368F	ENSP00000295927:V368F	V	+	1	0	PTX3	158643418	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.629000	0.67798	2.687000	0.91594	0.655000	0.94253	GTC	.		0.448	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		T	157160724	G	T	157160724	3	4	9	1	0	0	0	0	1	0	0	0	12867	1029	36	3	1112	3	PTX3	3	157160724	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7031756	157160724	40861706	129	1716											
SCHIP1	100505385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	159605617	159605617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagccaaaatggcccttGccatggccaaaccaatggcc	9	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:159605617G>T	ENST00000460298.1	+	5	1238	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A360S|SCHIP1_ENST00000445224.2_Missense_Mutation_p.A130S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A422S|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A449S|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A141S|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.A373S|SCHIP1_ENST00000482804.1_Missense_Mutation_p.A146S					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AATGGCCCTTGCCATGGCCAA	0.453																																					p.A449S		.											.	.	0			c.G1345T						.						91	94	93					3																	159605617		2203	4300	6503	SO:0001583	missense	100505385	exon8			GCCCTTGCCATGG		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.997G>T	3.37:g.159605617G>T	ENSP00000417305:p.Ala333Ser	Somatic	187	2		WXS	Illumina GAIIx	Phase_I	153	16	NM_001197113	0	0	2	2	0		Missense_Mutation	SNP	ENST00000460298.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.291483	0.95546	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.996;0.999;0.999;1.0	D;D;D;D;D;D	0.87578	0.998;0.994;0.986;0.994;0.997;0.996	T	0.69580	-0.5107	10	0.49607	T	0.09	.	18.8029	0.92025	0.0:0.0:1.0:0.0	.	333;146;130;360;373;449	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	S	422;449;373;360;141;333;130;146	ENSP00000418692:A422S;ENSP00000420182:A449S;ENSP00000337239:A373S;ENSP00000400942:A360S;ENSP00000436076:A141S;ENSP00000417305:A333S;ENSP00000404860:A130S;ENSP00000419230:A146S	ENSP00000337239:A373S	A	+	1	0	SCHIP1;IQCJ-SCHIP1	161088311	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.282000	0.95840	2.520000	0.84964	0.655000	0.94253	GCC	.		0.453	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		T	159605617	G	T	159605617	3	4	9	1	0	0	0	0	1	0	0	0	13949	1319	46	3	1135	3	SCHIP1	3	159605617	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2444893	159605617	38416813	130	1717											
KPNA4	3840	broad.mit.edu	37	chr3	160243877	160243877	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagacttatgacataatctCtacactggggcccatcacct	6	13	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:160243877C>A	ENST00000334256.4	-	9	880	c.575G>T	c.(574-576)aGa>aTa	p.R192I		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	192	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACATAATCTCTACACTGGGG	0.348																																					p.R192I		.											.	KPNA4-226	0			c.G575T						.						106	112	110					3																	160243877		2203	4300	6503	SO:0001583	missense	3840	exon9			TAATCTCTACACT	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.575G>T	3.37:g.160243877C>A	ENSP00000334373:p.Arg192Ile	Somatic	266	2		WXS	Illumina GAIIx	Phase_I	187	6	NM_002268	0	0	8	9	1	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921531	0.92249	.	.	ENSG00000186432	ENST00000334256	T	0.69175	-0.38	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89040	0.6602	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93099	0.6507	10	0.87932	D	0	-5.0406	18.4275	0.90614	0.0:1.0:0.0:0.0	.	192	O00629	IMA4_HUMAN	I	192	ENSP00000334373:R192I	ENSP00000334373:R192I	R	-	2	0	KPNA4	161726571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.604000	0.82830	2.578000	0.87016	0.655000	0.94253	AGA	.		0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		A	160243877	C	A	160243877	3	1	9	1	0	0	0	0	1	0	0	0	8459	913	32	3	1026	3	KPNA4	3	160243877	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	638260	160243877	37778553	131	1718											
B3GALNT1	8706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	160804280	160804280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctggctttcacatctgaaGggtgggaggtcaccagaatg	14	9	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:160804280G>T	ENST00000392781.2	-	8	1010	c.263C>A	c.(262-264)cCt>cAt	p.P88H	B3GALNT1_ENST00000488170.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.P88H|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.P88H|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.P88H	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	88					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.P88H(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CACATCTGAAGGGTGGGAGGT	0.433																																					p.P88H		.											.	B3GALNT1-91	1	Substitution - Missense(1)	lung(1)	c.C263A						.						82	86	84					3																	160804280		2203	4300	6503	SO:0001583	missense	8706	exon8			TCTGAAGGGTGGG	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.263C>A	3.37:g.160804280G>T	ENSP00000376532:p.Pro88His	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	46	22	NM_001038628	0	0	0	0	0	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018158	0.19355	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.53206	0.82;0.82;0.82;0.82;0.82;0.82;0.63	5.73	5.73	0.89815	.	0.093337	0.48286	D	0.000187	T	0.28134	0.0694	N	0.24115	0.695	0.42653	D	0.993458	P	0.43094	0.799	B	0.33750	0.169	T	0.13202	-1.0518	10	0.09843	T	0.71	.	13.8015	0.63204	0.0:0.0:0.8469:0.1531	.	88	O75752	B3GL1_HUMAN	H	88	ENSP00000323479:P88H;ENSP00000376530:P88H;ENSP00000376531:P88H;ENSP00000376532:P88H;ENSP00000418226:P88H;ENSP00000420163:P88H;ENSP00000419476:P88H	ENSP00000323479:P88H	P	-	2	0	B3GALNT1	162286974	0.997000	0.39634	0.999000	0.59377	0.976000	0.68499	2.588000	0.46137	2.701000	0.92244	0.561000	0.74099	CCT	.		0.433	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		T	160804280	G	T	160804280	3	4	9	1	0	0	0	0	1	0	0	0	1246	1000	35	3	736	3	B3GALNT1	3	160804280	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	560403	160804280	37218150	132	1719											
ZBBX	79740	ucsc.edu;bcgsc.ca	37	chr3	167033573	167033573	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagctaatttaactttGtaaggcacaatattttctgc	6	8	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:167033573G>T	ENST00000392766.2	-	15	1579	c.1239C>A	c.(1237-1239)taC>taA	p.Y413*	ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Y413*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Y413*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Y413*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Y384*|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	413						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						ATTTAACTTTGTAAGGCACAA	0.299																																					p.Y413X		.											.	ZBBX-92	0			c.C1239A						.						74	72	73					3																	167033573		1819	4078	5897	SO:0001587	stop_gained	79740	exon15			AACTTTGTAAGGC	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.1239C>A	3.37:g.167033573G>T	ENSP00000376519:p.Tyr413*	Somatic	234	2		WXS	Illumina GAIIx	Phase_I	142	19	NM_024687	0	0	0	0	0	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	38	7.103968	0.98066	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.84	3.02	0.34903	.	0.071675	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1791	7.5245	0.27647	0.2796:0.0:0.7204:0.0	.	.	.	.	X	413;413;413;413;384	.	ENSP00000305065:Y413X	Y	-	3	2	ZBBX	168516267	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	0.773000	0.26661	0.339000	0.23719	0.650000	0.86243	TAC	.		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		T	167033573	G	T	167033573	4	4	9	1	0	0	0	0	0	1	0	0	17565	1372	48	3	1191	3	ZBBX	3	167033573	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6229293	167033573	30988857	133	1720											
LRRC34	151827	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	169514567	169514567	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagcgcaggctactgttcaGatacagtgcatcacataact	9	10	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:169514567G>T	ENST00000316515.7	-	7	1015	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	LRRC34_ENST00000446859.1_Missense_Mutation_p.L292M|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.L260M|LRRC34_ENST00000522830.1_Missense_Mutation_p.L231M|RP11-362K14.6_ENST00000602835.1_RNA	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	247										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTACTGTTCAGATACAGTGCA	0.338																																					p.L292M		.											.	LRRC34-90	0			c.C874A						.						134	111	118					3																	169514567		2203	4300	6503	SO:0001583	missense	151827	exon8			TGTTCAGATACAG	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.739C>A	3.37:g.169514567G>T	ENSP00000326150:p.Leu247Met	Somatic	161	2		WXS	Illumina GAIIx	Phase_I	105	19	NM_001172779	0	0	0	0	0	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	G	9.263	1.043680	0.19748	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.9	5.97	-3.14	0.05250	.	1.269890	0.05149	N	0.495679	T	0.51787	0.1695	L	0.51422	1.61	0.09310	N	1	P;P;P;D;P	0.54397	0.855;0.664;0.704;0.966;0.93	B;B;P;P;B	0.54401	0.38;0.201;0.452;0.751;0.38	T	0.50074	-0.8870	10	0.30078	T	0.28	1.1552	3.0122	0.06048	0.2079:0.4547:0.1649:0.1725	.	279;231;231;292;247	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	M	292;247;231;260;41	ENSP00000414635:L292M;ENSP00000326150:L247M;ENSP00000429593:L231M;ENSP00000429278:L260M;ENSP00000436883:L41M	ENSP00000326150:L247M	L	-	1	2	LRRC34	170997261	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.020000	0.12525	-0.090000	0.12462	-1.163000	0.01768	CTG	.		0.338	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		T	169514567	G	T	169514567	3	4	9	1	0	0	0	0	1	0	0	0	9024	933	33	3	558	3	LRRC34	3	169514567	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2480994	169514567	28507863	134	1721											
SLC7A14	57709	broad.mit.edu	37	chr3	170198352	170198352	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaagatgaacatgaggatGaagagcaggagcacgcagat	14	6	0	7			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:170198352G>T	ENST00000231706.5	-	7	2034	c.1719C>A	c.(1717-1719)ttC>ttA	p.F573L	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	573					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACATGAGGATGAAGAGCAGGA	0.542																																					p.F573L		.											.	SLC7A14-94	0			c.C1719A						.						92	82	85					3																	170198352		2203	4300	6503	SO:0001583	missense	57709	exon7			GAGGATGAAGAGC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1719C>A	3.37:g.170198352G>T	ENSP00000231706:p.Phe573Leu	Somatic	87	2		WXS	Illumina GAIIx	Phase_I	63	10	NM_020949	0	0	0	0	0	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878963	0.51801	.	.	ENSG00000013293	ENST00000231706	D	0.87412	-2.25	5.6	4.54	0.55810	.	0.043340	0.85682	D	0.000000	D	0.85296	0.5664	L	0.56769	1.78	0.58432	D	0.999994	D	0.55172	0.97	P	0.48627	0.584	T	0.81547	-0.0883	10	0.09590	T	0.72	.	12.6588	0.56801	0.1482:0.0:0.8518:0.0	.	573	Q8TBB6	S7A14_HUMAN	L	573	ENSP00000231706:F573L	ENSP00000231706:F573L	F	-	3	2	SLC7A14	171681046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.296000	0.33389	2.627000	0.88993	0.655000	0.94253	TTC	.		0.542	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170198352	G	T	170198352	3	4	9	1	0	0	0	0	1	0	0	0	14741	1281	45	3	604	3	SLC7A14	3	170198352	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	683785	170198352	27824078	135	1722											
TNIK	23043	broad.mit.edu	37	chr3	170928941	170928941	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgcctggtgggttctttttGataaaagcaccatagtatgt	10	6	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:170928941G>T	ENST00000436636.2	-	4	614	c.270C>A	c.(268-270)atC>atA	p.I90I	TNIK_ENST00000357327.5_Silent_p.I90I|TNIK_ENST00000284483.8_Silent_p.I90I|TNIK_ENST00000538048.1_Silent_p.I90I|TNIK_ENST00000341852.6_Silent_p.I90I|TNIK_ENST00000488470.1_Silent_p.I90I|TNIK_ENST00000369326.5_Silent_p.I90I|TNIK_ENST00000475336.1_Silent_p.I90I|TNIK_ENST00000460047.1_Silent_p.I90I|TNIK_ENST00000470834.1_Silent_p.I90I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	90	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)			GGTTCTTTTTGATAAAAGCAC	0.358																																					p.I90I		.											.	TNIK-550	0			c.C270A						.						120	116	117					3																	170928941		1830	4096	5926	SO:0001819	synonymous_variant	23043	exon4			CTTTTTGATAAAA	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.270C>A	3.37:g.170928941G>T		Somatic	56	2		WXS	Illumina GAIIx	Phase_I	51	6	NM_001161562	0	0	3	3	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																			.		0.358	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		T	170928941	G	T	170928941	2	4	9	1	0	0	0	0	0	0	0	1	16360	1280	45	3		3	TNIK	3	170928941	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	730589	170928941	27093489	136	1723											
ECT2	1894	broad.mit.edu	37	chr3	172520657	172520657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcaacctatacaggctaatCttttatcttctcaccgaagc	4	12	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:172520657C>G	ENST00000392692.3	+	20	2169	c.1993C>G	c.(1993-1995)Ctt>Gtt	p.L665V	ECT2_ENST00000540509.1_Missense_Mutation_p.L665V|ECT2_ENST00000417960.1_Missense_Mutation_p.L633V|ECT2_ENST00000427830.1_Missense_Mutation_p.L634V|ECT2_ENST00000232458.5_Missense_Mutation_p.L634V|ECT2_ENST00000441497.2_Missense_Mutation_p.L634V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	665					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACAGGCTAATCTTTTATCTTC	0.353																																					p.L665V		.											.	ECT2-724	0			c.C1993G						.						67	66	66					3																	172520657		2203	4300	6503	SO:0001583	missense	1894	exon20			GCTAATCTTTTAT	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1993C>G	3.37:g.172520657C>G	ENSP00000376457:p.Leu665Val	Somatic	43	2		WXS	Illumina GAIIx	Phase_I	35	6	NM_001258315	0	0	0	0	0	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.379488|2.379488	0.42207|0.42207	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68265|0.68265	0.2982|0.2982	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.54397|.	0.942;0.876;0.966;0.966;0.966|.	P;B;P;P;P|.	0.54270|.	0.638;0.338;0.664;0.664;0.747|.	T|T	0.61491|0.61491	-0.7052|-0.7052	10|5	0.54805|.	T|.	0.06|.	-19.5626|-19.5626	20.3368|20.3368	0.98748|0.98748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	665;110;665;634;633|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	V|C	634;665;634;633;634;665|4	ENSP00000232458:L634V;ENSP00000376457:L665V;ENSP00000401910:L634V;ENSP00000415876:L633V;ENSP00000412259:L634V;ENSP00000443160:L665V|.	ENSP00000232458:L634V|.	L|S	+|+	1|2	0|0	ECT2|ECT2	174003351|174003351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	2.844000|2.844000	0.48246|0.48246	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CTT|TCT	.		0.353	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		G	172520657	C	G	172520657	3	3	9	1	0	0	0	0	1	0	0	0	4915	913	32	3	1970	3	ECT2	3	172520657	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1591716	172520657	25501773	137	1724											
NAALADL2	254827	bcgsc.ca	37	chr3	175189492	175189492	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccacagtcccataaggggGaactctagtctgtatcctgt	9	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:175189492G>T	ENST00000454872.1	+	9	1727	c.1599G>T	c.(1597-1599)ggG>ggT	p.G533G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	533						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCATAAGGGGGAACTCTAGTC	0.383																																					p.G533G		.											.	NAALADL2-47	0			c.G1599T						.						80	72	74					3																	175189492		1841	4095	5936	SO:0001819	synonymous_variant	254827	exon9			AAGGGGGAACTCT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1599G>T	3.37:g.175189492G>T		Somatic	265	5		WXS	Illumina GAIIx	Phase_I	137	56	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		T	175189492	G	T	175189492	2	4	9	1	0	0	0	0	0	0	0	1	10168	1161	41	3		3	NAALADL2	3	175189492	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2668835	175189492	22832938	138	1725											
USP13	8975	ucsc.edu	37	chr3	179483602	179483602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacattatttctgaggccaaGcccgaaggacctagagtcaa	9	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:179483602G>T	ENST00000263966.3	+	19	2850	c.2379G>T	c.(2377-2379)aaG>aaT	p.K793N	USP13_ENST00000496897.1_Missense_Mutation_p.K728N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	793	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)			CTGAGGCCAAGCCCGAAGGAC	0.458																																					p.K793N		.											.	USP13-659	0			c.G2379T						.						112	108	109					3																	179483602		2203	4300	6503	SO:0001583	missense	8975	exon19			GGCCAAGCCCGAA	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.2379G>T	3.37:g.179483602G>T	ENSP00000263966:p.Lys793Asn	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	76	11	NM_003940	0	0	5	7	2	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294072	0.23564	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.15017	2.46;2.47	5.61	-0.779	0.10973	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.326058	0.33753	N	0.004585	T	0.05227	0.0139	N	0.03608	-0.345	0.30345	N	0.785328	B	0.13594	0.008	B	0.17979	0.02	T	0.21586	-1.0241	10	0.27082	T	0.32	-26.0116	3.3717	0.07223	0.4403:0.1032:0.3512:0.1052	.	793	Q92995	UBP13_HUMAN	N	793;728	ENSP00000263966:K793N;ENSP00000417146:K728N	ENSP00000263966:K793N	K	+	3	2	USP13	180966296	0.994000	0.37717	0.995000	0.50966	0.969000	0.65631	0.160000	0.16462	0.063000	0.16370	0.655000	0.94253	AAG	.		0.458	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			T	179483602	G	T	179483602	3	4	9	1	0	0	0	0	1	0	0	0	17093	962	34	3	2453	3	USP13	3	179483602	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4294110	179483602	18538828	139	1726											
TTC14	151613	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	180324359	180324359	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagaaatgcaagaaaataCctctgccagacacttgtaga	7	10	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:180324359C>A	ENST00000296015.4	+	9	1272	c.1140C>A	c.(1138-1140)taC>taA	p.Y380*	TTC14_ENST00000382584.4_Nonsense_Mutation_p.Y380*|TTC14_ENST00000412756.2_Nonsense_Mutation_p.Y380*	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	380							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)			CAAGAAAATACCTCTGCCAGA	0.358																																					p.Y380X		.											.	TTC14-91	0			c.C1140A						.						117	123	121					3																	180324359		2203	4300	6503	SO:0001587	stop_gained	151613	exon9			AAAATACCTCTGC	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.1140C>A	3.37:g.180324359C>A	ENSP00000296015:p.Tyr380*	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	91	9	NM_001042601	0	0	3	3	0	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830245	0.96996	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	.	.	.	5.93	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9268	9.9834	0.41828	0.0:0.6629:0.0:0.3371	.	.	.	.	X	380	.	ENSP00000296015:Y380X	Y	+	3	2	TTC14	181807053	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.339000	0.19875	0.394000	0.25230	-0.136000	0.14681	TAC	.		0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		A	180324359	C	A	180324359	4	1	9	1	0	0	0	0	0	1	0	0	16730	518	18	3	1174	3	TTC14	3	180324359	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	840757	180324359	17698071	140	1727											
EHHADH	1962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	184910464	184910464	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgataccaacccttacctgtCttctggccaaatcgtcctaa	5	14	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:184910464C>A	ENST00000231887.3	-	7	1797	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.K478N	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	574					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCTTACCTGTCTTCTGGCCAA	0.463																																					p.K574N		.											.	EHHADH-93	0			c.G1722T						.						89	79	83					3																	184910464		2203	4300	6503	SO:0001583	missense	1962	exon7			ACCTGTCTTCTGG	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1722G>T	3.37:g.184910464C>A	ENSP00000231887:p.Lys574Asn	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	89	30	NM_001966	0	0	3	3	0	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192847	0.58017	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.92149	-2.98;-2.98	5.91	5.04	0.67666	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.131389	0.64402	D	0.000002	D	0.97052	0.9037	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97061	0.9771	10	0.87932	D	0	-23.4549	9.188	0.37182	0.0:0.7384:0.0:0.2616	.	574	Q08426	ECHP_HUMAN	N	574;478	ENSP00000231887:K574N;ENSP00000387746:K478N	ENSP00000231887:K574N	K	-	3	2	EHHADH	186393158	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	1.099000	0.31013	1.510000	0.48803	0.655000	0.94253	AAG	.		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			A	184910464	C	A	184910464	3	1	9	1	0	0	0	0	1	0	0	0	4996	912	32	3	453	3	EHHADH	3	184910464	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4586105	184910464	13111966	141	1728											
C3orf34	84984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	196434499	196434499	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaaattcaacctcaatgtCataaacaaaatttggatcat	5	7	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr3:196434499C>A	ENST00000399942.4	-	2	604	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Missense_Mutation_p.D143Y			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	139						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCTCAATGTCATAAACAAAA	0.403																																					p.D143Y		.											.	CEP19-69	0			c.G427T						.						150	139	142					3																	196434499		1919	4134	6053	SO:0001583	missense	84984	exon3			CAATGTCATAAAC	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.310G>T	3.37:g.196434499C>A	ENSP00000382823:p.Asp104Tyr	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	47	17	NM_032898	0	0	3	5	2	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	18.11	3.551413	0.65311	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	4.77	0.60923	.	0.084004	0.85682	D	0.000000	T	0.77955	0.4208	M	0.80616	2.505	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.80553	-0.1331	9	0.87932	D	0	-18.5034	13.9478	0.64096	0.0:0.8771:0.0:0.1229	.	139	Q96LK0	CEP19_HUMAN	Y	143;104	.	ENSP00000382823:D104Y	D	-	1	0	CEP19	197918896	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.229000	0.42990	2.832000	0.97577	0.655000	0.94253	GAC	.		0.403	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		A	196434499	C	A	196434499	3	1	9	1	0	0	0	0	1	0	0	0	2231	826	29	3	80	3	C3orf34	3	196434499	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11524035	196434499	1587931	142	1729											
GAK	2580	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	882712	882712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcccaccccgcagaatGtccaggaagccgccatacgg	10	16	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:882712G>T	ENST00000314167.4	-	11	1238	c.1128C>A	c.(1126-1128)gaC>gaA	p.D376E	GAK_ENST00000511163.1_Missense_Mutation_p.D297E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	376					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCGCAGAATGTCCAGGAAGC	0.647																																					p.D376E		.											.	GAK-568	0			c.C1128A						.						67	56	60					4																	882712		2198	4297	6495	SO:0001583	missense	2580	exon11			CAGAATGTCCAGG	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1128C>A	4.37:g.882712G>T	ENSP00000314499:p.Asp376Glu	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	116	35	NM_005255	0	0	23	30	7	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612131	0.46631	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.79247	-0.83;-1.25	4.55	2.78	0.32641	.	0.103079	0.64402	D	0.000004	T	0.79088	0.4387	L	0.60455	1.87	0.51012	D	0.999901	P;P;P;P	0.51147	0.942;0.765;0.719;0.719	P;B;P;P	0.54924	0.764;0.404;0.573;0.474	T	0.76323	-0.3001	10	0.66056	D	0.02	-39.9077	6.4476	0.21885	0.2345:0.0:0.7655:0.0	.	297;297;376;272	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	E	376;297	ENSP00000314499:D376E;ENSP00000421361:D297E	ENSP00000314499:D376E	D	-	3	2	GAK	872712	1.000000	0.71417	0.828000	0.32881	0.240000	0.25518	0.991000	0.29654	0.341000	0.23771	0.561000	0.74099	GAC	.		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		T	882712	G	T	882712	3	4	9	1	0	0	0	0	1	0	0	0	6220	1368	48	3	2879	3	GAK	4	882712	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		882712	190271564	143	1730											
TMEM175	84286	broad.mit.edu;ucsc.edu	37	chr4	947039	947039	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcccgcagatccagcgctCtgcccacagggctctgtacc	11	17	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:947039C>A	ENST00000264771.4	+	8	709	c.524C>A	c.(523-525)tCt>tAt	p.S175Y	TMEM175_ENST00000515740.1_Missense_Mutation_p.S59Y|TMEM175_ENST00000508204.1_Missense_Mutation_p.S93Y|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	175						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATCCAGCGCTCTGCCCACAGG	0.622																																					p.S175Y		.											.	TMEM175-90	0			c.C524A						.						117	96	103					4																	947039		2203	4300	6503	SO:0001583	missense	84286	exon8			AGCGCTCTGCCCA	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.524C>A	4.37:g.947039C>A	ENSP00000264771:p.Ser175Tyr	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	105	16	NM_032326	0	0	92	98	6	D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.25	2.180184	0.38511	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.51325	1.32;0.77;1.19;0.71	4.71	3.86	0.44501	.	0.329659	0.29119	N	0.013097	T	0.52306	0.1726	L	0.54323	1.7	0.30719	N	0.748427	P;P;D	0.57899	0.729;0.916;0.981	B;P;P	0.52424	0.276;0.627;0.698	T	0.58340	-0.7653	10	0.56958	D	0.05	-27.1319	10.911	0.47108	0.0:0.809:0.191:0.0	.	93;175;93	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	Y	175;162;93;93;81;59;93;93	ENSP00000264771:S175Y;ENSP00000425181:S162Y;ENSP00000427039:S59Y;ENSP00000423669:S93Y	ENSP00000264771:S175Y	S	+	2	0	TMEM175	937039	0.707000	0.27866	0.003000	0.11579	0.001000	0.01503	3.596000	0.54024	0.961000	0.38030	0.567000	0.79289	TCT	.		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		A	947039	C	A	947039	3	1	9	1	0	0	0	0	1	0	0	0	16138	913	32	3	550	3	TMEM175	4	947039	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	64327	947039	190207237	144	1731											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	113	15	NM_175918	0	0	18	55	37	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	9	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	441716	1388755	189765521	145	1732											
TACC3	10460	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	1742615	1742615	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaagttctaaaagaaaaaGaccaacttaccacagatctg	6	8	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:1742615G>T	ENST00000313288.4	+	13	2231	c.2125G>T	c.(2125-2127)Gac>Tac	p.D709Y		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	709					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)			AAAAGAAAAAGACCAACTTAC	0.443																																					p.D709Y	Ovarian(120;482 2294 11894 35824)	.											.	TACC3-91	0			c.G2125T						.						85	85	85					4																	1742615		2203	4300	6503	SO:0001583	missense	10460	exon13			GAAAAAGACCAAC	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.2125G>T	4.37:g.1742615G>T	ENSP00000326550:p.Asp709Tyr	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	126	20	NM_006342	0	0	82	90	8	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453180	0.63290	.	.	ENSG00000013810	ENST00000313288	T	0.51071	0.72	4.99	3.19	0.36642	.	1.032320	0.07744	N	0.947434	T	0.66436	0.2789	M	0.81497	2.545	0.26648	N	0.972168	D;D	0.61080	0.989;0.963	D;P	0.63113	0.911;0.771	T	0.50056	-0.8872	10	0.66056	D	0.02	-8.3295	7.5032	0.27530	0.101:0.3511:0.5479:0.0	.	709;709	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	Y	709	ENSP00000326550:D709Y	ENSP00000326550:D709Y	D	+	1	0	TACC3	1712413	0.981000	0.34729	0.003000	0.11579	0.801000	0.45260	2.917000	0.48821	1.340000	0.45581	0.650000	0.86243	GAC	.		0.443	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1742615	G	T	1742615	3	4	9	1	0	0	0	0	1	0	0	0	15550	942	33	3	2171	3	TACC3	4	1742615	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	353860	1742615	189411661	146	1733											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	53	20	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	9	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2485841	4228456	186925820	147	1734											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228472	4228472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccggggggccggggaTtccggggacctcggggccga	20	15	0	0	rs76810534		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	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)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3	4	4					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	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.120A>G	4.37:g.4228472T>C		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	39	13	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228472	T	C	4228472	2	2	9	1	0	0	0	0	0	0	0	1	11344	1490	52	4		4	OTOP1	4	4228472	Silent	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	16	4228472	186925804	148	1735											
HTRA3	94031	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	8293280	8293280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggactacatccagacggatGccatcatcaacgtgagtccc	9	13	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:8293280G>T	ENST00000307358.2	+	4	1096	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	HTRA3_ENST00000382512.3_Missense_Mutation_p.A298S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	298	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CCAGACGGATGCCATCATCAA	0.637																																					p.A298S		.											.	HTRA3-91	0			c.G892T						.						29	25	27					4																	8293280		2201	4299	6500	SO:0001583	missense	94031	exon4			ACGGATGCCATCA	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.892G>T	4.37:g.8293280G>T	ENSP00000303766:p.Ala298Ser	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	133	17	NM_053044	0	0	0	0	0	Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290876	0.80914	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.90732	-2.72;-2.72	4.1	4.1	0.47936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.127228	0.52532	D	0.000065	D	0.96030	0.8707	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.97193	0.9859	10	0.87932	D	0	-31.0093	16.3177	0.82934	0.0:0.0:1.0:0.0	.	298;298	P83110;P83110-2	HTRA3_HUMAN;.	S	298	ENSP00000303766:A298S;ENSP00000371952:A298S	ENSP00000303766:A298S	A	+	1	0	HTRA3	8344180	1.000000	0.71417	0.983000	0.44433	0.637000	0.38172	9.110000	0.94302	1.842000	0.53543	0.461000	0.40582	GCC	.		0.637	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		T	8293280	G	T	8293280	3	4	9	1	0	0	0	0	1	0	0	0	7482	1319	46	3	906	3	HTRA3	4	8293280	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4064808	8293280	182860996	149	1736											
DEFB131	644414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	9452101	9452101	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaagccagaagcttcatttCtaatgatgaatgtccttcag	7	8	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:9452101C>A	ENST00000334879.1	+	2	74	c.74C>A	c.(73-75)tCt>tAt	p.S25Y		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	25					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						AGCTTCATTTCTAATGATGAA	0.299																																					p.S25Y		.											.	DEFB131-68	0			c.C74A						.						35	29	31					4																	9452101		1811	4067	5878	SO:0001583	missense	644414	exon2			TCATTTCTAATGA	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"Defensins, beta"	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.74C>A	4.37:g.9452101C>A	ENSP00000335538:p.Ser25Tyr	Somatic	252	0		WXS	Illumina GAIIx	Phase_I	224	40	NM_001040448	0	0	0	0	0		Missense_Mutation	SNP	ENST00000334879.1	37	CCDS43213.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.206962	0.00001	.	.	ENSG00000186146	ENST00000334879	.	.	.	0.42	-0.841	0.10752	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	7	0.02654	T	1	.	0.1336	0.00076	0.2473:0.2539:0.2465:0.2522	.	25	P59861	DB131_HUMAN	Y	25	.	ENSP00000335538:S25Y	S	+	2	0	DEFB131	9061199	0.000000	0.05858	0.020000	0.16555	0.069000	0.16628	-2.363000	0.01081	-2.178000	0.00768	-1.604000	0.00809	TCT	.		0.299	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448		A	9452101	C	A	9452101	3	1	9	1	0	0	0	0	1	0	0	0	4430	913	32	3	80	3	DEFB131	4	9452101	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1158821	9452101	181702175	150	1737											
ZCCHC4	29063	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	25351214	25351214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcttggttgaacctctggCtattacattcaagaagttaa	9	7	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:25351214C>A	ENST00000302874.4	+	7	884	c.860C>A	c.(859-861)gCt>gAt	p.A287D	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	287							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)				GAACCTCTGGCTATTACATTC	0.378																																					p.A287D		.											.	ZCCHC4-70	0			c.C860A						.						173	167	169					4																	25351214		1865	4092	5957	SO:0001583	missense	29063	exon7			CTCTGGCTATTAC	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.860C>A	4.37:g.25351214C>A	ENSP00000303468:p.Ala287Asp	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	156	57	NM_024936	0	0	1	1	0	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422514	0.83559	.	.	ENSG00000168228	ENST00000302874	T	0.44083	0.93	5.4	5.4	0.78164	.	0.048914	0.85682	D	0.000000	T	0.66906	0.2837	M	0.80183	2.485	0.47094	D	0.999316	D	0.89917	1.0	D	0.81914	0.995	T	0.71461	-0.4586	10	0.87932	D	0	-12.0334	16.0972	0.81135	0.0:1.0:0.0:0.0	.	287	Q9H5U6	ZCHC4_HUMAN	D	287	ENSP00000303468:A287D	ENSP00000303468:A287D	A	+	2	0	ZCCHC4	24960312	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.641000	0.67881	2.520000	0.84964	0.655000	0.94253	GCT	.		0.378	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			A	25351214	C	A	25351214	3	1	9	1	0	0	0	0	1	0	0	0	17638	797	28	3	886	3	ZCCHC4	4	25351214	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15899113	25351214	165803062	151	1738											
TBC1D1	23216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	37903767	37903767	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catctgctttctaacgaggtCtcggtggattttggcctgca	11	10	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:37903767C>A	ENST00000261439.4	+	2	406	c.51C>A	c.(49-51)gtC>gtA	p.V17V	TBC1D1_ENST00000402522.1_Silent_p.V17V|TBC1D1_ENST00000508802.1_Silent_p.V17V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	17					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTAACGAGGTCTCGGTGGATT	0.522																																					p.V17V		.											.	TBC1D1-91	0			c.C51A						.						106	97	100					4																	37903767		2203	4300	6503	SO:0001819	synonymous_variant	23216	exon2			CGAGGTCTCGGTG	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.51C>A	4.37:g.37903767C>A		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	177	47	NM_015173	0	0	0	0	0	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1																																																																																			.		0.522	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		A	37903767	C	A	37903767	2	1	9	1	0	0	0	0	0	0	0	1	15644	900	32	3		3	TBC1D1	4	37903767	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	12552553	37903767	153250509	152	1739											
WDR19	57728	bcgsc.ca	37	chr4	39188188	39188188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattgtgaaaatctttgatcGccatggtcaaaaaagaagtg	9	5	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:39188188G>T	ENST00000399820.3	+	3	282	c.128G>T	c.(127-129)cGc>cTc	p.R43L	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.R43L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	43					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						ATCTTTGATCGCCATGGTCAA	0.269																																					p.R43L		.											.	WDR19-67	0			c.G128T						.						35	34	34					4																	39188188		1796	4061	5857	SO:0001583	missense	57728	exon3			TTGATCGCCATGG	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.128G>T	4.37:g.39188188G>T	ENSP00000382717:p.Arg43Leu	Somatic	121	3		WXS	Illumina GAIIx	Phase_I	181	57	NM_025132	0	0	1	1	0	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965625	0.92855	.	.	ENSG00000157796	ENST00000399820;ENST00000506503;ENST00000399836	T;T	0.55234	0.53;0.53	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.82392	-0.0480	10	0.66056	D	0.02	-13.7685	18.3637	0.90384	0.0:0.0:1.0:0.0	.	43;43	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	L	43;43;42	ENSP00000382717:R43L;ENSP00000423491:R43L	ENSP00000382717:R43L	R	+	2	0	WDR19	38864583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.367000	0.73099	2.691000	0.91804	0.561000	0.74099	CGC	.		0.269	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			T	39188188	G	T	39188188	3	4	9	1	0	0	0	0	1	0	0	0	17328	1087	38	2	138	2	WDR19	4	39188188	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1284421	39188188	151966088	153	1740											
RBM47	54502	hgsc.bcm.edu	37	chr4	40440854	40440854	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgccctcgggcaccttggcGgaggacccggcggccgagtc	16	16	0	0	rs1052153	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000514014.1_Intron|RBM47_ENST00000295971.7_Silent_p.S19S|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000319592.4_Silent_p.S19S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					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						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8	9	9		57,57	-7.6	0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	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.57C>G	4.37:g.40440854G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_001098634	0	0	0	4	4	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440854	G	C	40440854	2	2	9	1	0	0	0	0	0	0	0	1	13186	1103	39	2		2	RBM47	4	40440854	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1252666	40440854	150713422	154	1741											
CORIN	10699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	47746504	47746504	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctaaactgggagcatctGaggaaatccggccaggagta	12	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:47746504G>T	ENST00000273857.4	-	5	713	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CORIN_ENST00000502252.1_Silent_p.L171L|CORIN_ENST00000504584.1_Silent_p.L238L|CORIN_ENST00000508498.1_Silent_p.L99L|CORIN_ENST00000505909.1_Silent_p.L238L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	238	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						GGGAGCATCTGAGGAAATCCG	0.483																																					p.L238L		.											.	CORIN-91	0			c.C714A						.						174	181	179					4																	47746504		2203	4300	6503	SO:0001819	synonymous_variant	10699	exon5			GCATCTGAGGAAA	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.714C>A	4.37:g.47746504G>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	117	12	NM_006587	0	0	0	0	0	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																			.		0.483	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			T	47746504	G	T	47746504	2	4	9	1	0	0	0	0	0	0	0	1	3759	1277	45	3		3	CORIN	4	47746504	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7305650	47746504	143407772	155	1742											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	9	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	745930	48492434	142661842	156	1743											
SCFD2	152579	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	54011642	54011642	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaataaatatatatgagaagGatcagcagttcctcagggct	10	6	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:54011642G>T	ENST00000401642.3	-	5	1552	c.1419C>A	c.(1417-1419)atC>atA	p.I473I	SCFD2_ENST00000388940.4_Silent_p.I473I	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	473					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATATGAGAAGGATCAGCAGTT	0.463																																					p.I473I		.											.	SCFD2-93	0			c.C1419A						.						125	126	126					4																	54011642		2203	4300	6503	SO:0001819	synonymous_variant	152579	exon5			GAGAAGGATCAGC	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1419C>A	4.37:g.54011642G>T		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	127	22	NM_152540	0	0	21	23	2	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	CCDS33984.1																																																																																			.		0.463	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		T	54011642	G	T	54011642	2	4	9	1	0	0	0	0	0	0	0	1	13935	1164	41	3		3	SCFD2	4	54011642	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5519208	54011642	137142634	157	1744											
SRP72	6731	ucsc.edu;bcgsc.ca	37	chr4	57352563	57352563	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagttgaaaatttctcaaGgtattatggttttcatcatg	7	6	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:57352563G>T	ENST00000342756.5	+	11	1880	c.1159G>T	c.(1159-1161)Ggt>Tgt	p.G387C	SRP72_ENST00000510663.1_Splice_Site_p.G326C	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	387					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AATTTCTCAAGGTATTATGGT	0.289																																					p.G387C		.											.	SRP72-116	0			c.G1159T						.						28	28	28					4																	57352563		2200	4292	6492	SO:0001630	splice_region_variant	6731	exon11			TCTCAAGGTATTA	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1159+1G>T	4.37:g.57352563G>T		Somatic	167	3		WXS	Illumina GAIIx	Phase_I	216	46	NM_006947	0	0	0	0	0	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507418	0.85282	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.987	T	0.77490	-0.2568	10	0.87932	D	0	.	16.6962	0.85336	0.0:0.0:1.0:0.0	.	326;387;387	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	C	387;332;326;148	ENSP00000342181:G387C;ENSP00000424576:G326C	ENSP00000342181:G387C	G	+	1	0	SRP72	57047320	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.259000	0.95561	2.513000	0.84729	0.655000	0.94253	GGT	.		0.289	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		Missense_Mutation	T	57352563	G	T	57352563	5	4	9	1	0	0	0	0	0	0	1	0	15204	1014	35	3	1201	3	SRP72	4	57352563	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3340921	57352563	133801713	158	1745											
SLC4A4	8671	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	72363343	72363343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcatgtcttttatcctcttCttgggaacctacacctcttc	4	14	5	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:72363343C>A	ENST00000264485.5	+	16	2217	c.2100C>A	c.(2098-2100)ttC>ttA	p.F700L	SLC4A4_ENST00000340595.3_Missense_Mutation_p.F656L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F700L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F700L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	700					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTATCCTCTTCTTGGGAACCT	0.378																																					p.F700L		.											.	SLC4A4-95	0			c.C2100A						.						118	123	121					4																	72363343		2203	4300	6503	SO:0001583	missense	8671	exon16			CCTCTTCTTGGGA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2100C>A	4.37:g.72363343C>A	ENSP00000264485:p.Phe700Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	131	11	NM_001098484	0	0	0	0	0	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236673	0.79800	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.44	2.78	0.32641	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.999;0.962;0.999;0.999	D	0.85048	0.0927	10	0.87932	D	0	.	10.5838	0.45271	0.0:0.7301:0.0:0.2699	.	700;700;656;700	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	L	700;700;700;656	ENSP00000264485:F700L;ENSP00000393557:F700L;ENSP00000307349:F700L;ENSP00000344272:F656L	ENSP00000264485:F700L	F	+	3	2	SLC4A4	72582207	0.981000	0.34729	0.999000	0.59377	0.990000	0.78478	0.563000	0.23547	0.357000	0.24183	-0.136000	0.14681	TTC	.		0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72363343	C	A	72363343	3	1	9	1	0	0	0	0	1	0	0	0	14701	912	32	3	2279	3	SLC4A4	4	72363343	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15010780	72363343	118790933	159	1746											
ANKRD17	26057	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	73941997	73941997	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcatgtgaggtgcccagggtCcagtccacacctatgaatat	10	11	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:73941997C>G	ENST00000358602.4	-	34	7879	c.7763G>C	c.(7762-7764)gGa>gCa	p.G2588A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2475A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2337A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2588					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)			TGCCCAGGGTCCAGTCCACAC	0.368																																					p.G2588A		.											.	ANKRD17-234	0			c.G7763C						.						70	63	65					4																	73941997		2203	4300	6503	SO:0001583	missense	26057	exon34			CAGGGTCCAGTCC	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.7763G>C	4.37:g.73941997C>G	ENSP00000351416:p.Gly2588Ala	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	200	11	NM_032217	0	0	0	0	0	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644180	0.67244	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.86562	-2.14;-2.12;-2.03	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000016	D	0.92021	0.7472	L	0.52573	1.65	0.53005	D	0.999962	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.995;0.995	D	0.92667	0.6146	10	0.87932	D	0	.	19.0464	0.93020	0.0:1.0:0.0:0.0	.	2587;2337;2588;2475	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	2588;1995;2337;2475	ENSP00000351416:G2588A;ENSP00000332265:G2337A;ENSP00000427151:G2475A	ENSP00000332265:G2337A	G	-	2	0	ANKRD17	74160861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.514000	0.84764	0.655000	0.94253	GGA	.		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73941997	C	G	73941997	3	3	9	1	0	0	0	0	1	0	0	0	646	855	30	3	52	3	ANKRD17	4	73941997	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1578654	73941997	117212279	160	1747											
ANKRD17	26057	broad.mit.edu	37	chr4	74005860	74005860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcattcttttctatggCttcttttatcctctgttcca	5	11	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:74005860C>A	ENST00000358602.4	-	15	2589	c.2473G>T	c.(2473-2475)Gcc>Tcc	p.A825S	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A712S|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	825					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)			TTTTCTATGGCTTCTTTTATC	0.468																																					p.A825S		.											.	ANKRD17-234	0			c.G2473T						.						165	172	170					4																	74005860		2203	4300	6503	SO:0001583	missense	26057	exon15			CTATGGCTTCTTT	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.2473G>T	4.37:g.74005860C>A	ENSP00000351416:p.Ala825Ser	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	112	5	NM_032217	0	0	1	1	0	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741471	0.69304	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.69435	1.66;-0.4	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.62122	0.2402	L	0.47190	1.495	0.80722	D	1	P;B;B;B	0.43633	0.813;0.234;0.242;0.184	B;B;B;B	0.37731	0.257;0.14;0.058;0.062	T	0.60010	-0.7346	10	0.30078	T	0.28	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	346;825;825;712	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	S	825;825;712;825	ENSP00000351416:A825S;ENSP00000427151:A712S	ENSP00000351416:A825S	A	-	1	0	ANKRD17	74224724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.699000	0.68310	2.937000	0.99478	0.650000	0.86243	GCC	.		0.468	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	74005860	C	A	74005860	3	1	9	1	0	0	0	0	1	0	0	0	646	797	28	3	5418	3	ANKRD17	4	74005860	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	63863	74005860	117148416	161	1748											
CXCL1	2919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	74735403	74735403	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggagcgtccgtggccactGaactgcgctgccagtgcttg	14	12	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:74735403G>T	ENST00000395761.3	+	2	185	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	40					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGTGGCCACTGAACTGCGCTG	0.647																																					p.E40X		.											.	CXCL1-204	0			c.G118T						.						75	86	82					4																	74735403		2203	4300	6503	SO:0001587	stop_gained	2919	exon2			GCCACTGAACTGC	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.118G>T	4.37:g.74735403G>T	ENSP00000379110:p.Glu40*	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	221	71	NM_001511	0	0	0	0	0	Q9UCR7	Nonsense_Mutation	SNP	ENST00000395761.3	37	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266833	0.80469	.	.	ENSG00000163739	ENST00000395761	.	.	.	5.05	4.21	0.49690	.	0.050988	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.3093	0.37893	0.0998:0.0:0.9002:0.0	.	.	.	.	X	40	.	ENSP00000379110:E40X	E	+	1	0	CXCL1	74954267	1.000000	0.71417	0.013000	0.15412	0.008000	0.06430	5.846000	0.69444	1.123000	0.41961	0.563000	0.77884	GAA	.		0.647	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			T	74735403	G	T	74735403	4	4	9	1	0	0	0	0	0	1	0	0	4086	1291	45	3	124	3	CXCL1	4	74735403	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	729543	74735403	116418873	162	1749											
PARM1	25849	broad.mit.edu;bcgsc.ca	37	chr4	75938041	75938041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcccacactcatctcCcctcaagctccagcctcatc	4	21	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:75938041C>A	ENST00000307428.7	+	2	662	c.450C>A	c.(448-450)tcC>tcA	p.S150S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	150					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACTCATCTCCCCTCAAGCTC	0.567																																					p.S150S		.											.	PARM1-1	0			c.C450A						.						198	214	208					4																	75938041		2154	4249	6403	SO:0001819	synonymous_variant	25849	exon2			CATCTCCCCTCAA	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.450C>A	4.37:g.75938041C>A		Somatic	171	1		WXS	Illumina GAIIx	Phase_I	212	12	NM_015393	0	0	3	3	0	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																			.		0.567	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		A	75938041	C	A	75938041	2	1	9	1	0	0	0	0	0	0	0	1	11491	610	22	3		3	PARM1	4	75938041	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1202638	75938041	115216235	163	1750											
CDKL2	8999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	76522169	76522169	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattccagaattaatgctGggagcaactgcagaaagatt	9	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:76522169G>T	ENST00000429927.2	-	9	1975	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	CDKL2_ENST00000307465.4_Silent_p.P424P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	424					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAATGCTGGGAGCAACTG	0.423																																					p.P424P		.											.	CDKL2-454	0			c.C1272A						.						169	158	162					4																	76522169		2203	4300	6503	SO:0001819	synonymous_variant	8999	exon9			AATGCTGGGAGCA	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1272C>A	4.37:g.76522169G>T		Somatic	183	2		WXS	Illumina GAIIx	Phase_I	222	58	NM_003948	0	0	0	0	0	B2R695	Silent	SNP	ENST00000429927.2	37	CCDS3570.1																																																																																			.		0.423	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		T	76522169	G	T	76522169	2	4	9	1	0	0	0	0	0	0	0	1	3161	1335	47	3		3	CDKL2	4	76522169	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	584128	76522169	114632107	164	1751											
COQ2	27235	broad.mit.edu	37	chr4	84205941	84205941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgaggccgggacgagCtcggattgacgtcattcccc	15	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:84205941C>T	ENST00000311469.4	-	1	126	c.127G>A	c.(127-129)Gct>Act	p.A43T	COQ2_ENST00000311461.7_5'Flank|COQ2_ENST00000439031.2_Missense_Mutation_p.A6T	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	0					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CCGGGACGAGCTCGGATTGAC	0.721																																					p.A43T		.											.	COQ2-92	0			c.G127A						.						8	9	9					4																	84205941		1880	4004	5884	SO:0001583	missense	27235	exon1			GACGAGCTCGGAT		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.127G>A	4.37:g.84205941C>T	ENSP00000310873:p.Ala43Thr	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128028	0.56721	.	.	ENSG00000173085	ENST00000311469;ENST00000439031	T;T	0.80653	-1.4;-1.16	3.17	-6.33	0.01988	.	.	.	.	.	T	0.68220	0.2977	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.58769	-0.7578	6	0.45353	T	0.12	-3.5536	3.2584	0.06840	0.3184:0.1723:0.4137:0.0957	.	.	.	.	T	43;6	ENSP00000310873:A43T;ENSP00000409275:A6T	ENSP00000310873:A43T	A	-	1	0	COQ2	84424965	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.318000	0.08050	-2.617000	0.00442	0.491000	0.48974	GCT	.		0.721	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		T	84205941	C	T	84205941	3	4	9	1	0	0	0	0	1	0	0	0	3752	797	28	3	1166	3	COQ2	4	84205941	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7683772	84205941	106948335	165	1752											
DAPP1	27071	bcgsc.ca	37	chr4	100738081	100738081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgcgaatgggcagagCagaacttctagaagggaaga	16	6	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:100738081C>A	ENST00000512369.1	+	1	79	c.11C>A	c.(10-12)gCa>gAa	p.A4E	DAPP1_ENST00000296414.7_Missense_Mutation_p.A4E	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	4					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGGCAGAGCAGAACTTCTA	0.572																																					p.A4E		.											.	DAPP1-93	0			c.C11A						.						44	47	46					4																	100738081		1990	4166	6156	SO:0001583	missense	27071	exon1			GCAGAGCAGAACT	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.11C>A	4.37:g.100738081C>A	ENSP00000423602:p.Ala4Glu	Somatic	103	2		WXS	Illumina GAIIx	Phase_I	128	16	NM_014395	0	0	0	0	0	Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388202	0.61956	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.72725	-0.68;-0.62	4.88	4.03	0.46877	.	0.101205	0.41194	D	0.000922	T	0.57975	0.2090	N	0.14661	0.345	0.33627	D	0.605494	P;P;P	0.52316	0.952;0.852;0.769	P;B;B	0.49140	0.601;0.386;0.215	T	0.68652	-0.5352	10	0.62326	D	0.03	-3.599	8.402	0.32592	0.0:0.897:0.0:0.103	.	4;4;4	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	E	4	ENSP00000296414:A4E;ENSP00000423602:A4E	ENSP00000296414:A4E	A	+	2	0	DAPP1	100957104	0.996000	0.38824	0.990000	0.47175	0.998000	0.95712	1.586000	0.36611	2.688000	0.91661	0.591000	0.81541	GCA	.		0.572	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			A	100738081	C	A	100738081	3	1	9	1	0	0	0	0	1	0	0	0	4248	710	25	3	13	3	DAPP1	4	100738081	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	16532140	100738081	90416195	166	1753											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	104082566	104082566	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcatcaagggctacagtttCagcatcaaacagagtctgct	10	10	4	1	rs545723213		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:104082566C>A	ENST00000265148.3	-	19	1980	c.1891G>T	c.(1891-1893)Gaa>Taa	p.E631*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E606*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	631					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)		GCTACAGTTTCAGCATCAAAC	0.368																																					p.E631X		.											.	CENPE-277	0			c.G1891T						.						99	103	101					4																	104082566		2203	4300	6503	SO:0001587	stop_gained	1062	exon19			CAGTTTCAGCATC	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.1891G>T	4.37:g.104082566C>A	ENSP00000265148:p.Glu631*	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	138	15	NM_001813	0	0	2	2	0	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112932	0.98070	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0148	0.92889	0.0:1.0:0.0:0.0	.	.	.	.	X	631;631;606;631	.	ENSP00000265148:E631X	E	-	1	0	CENPE	104302015	0.916000	0.31088	0.824000	0.32777	0.829000	0.46940	1.702000	0.37836	2.493000	0.84123	0.585000	0.79938	GAA	.		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104082566	C	A	104082566	4	1	9	1	0	0	0	0	0	1	0	0	3237	835	29	3	6338	3	CENPE	4	104082566	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3344485	104082566	87071710	167	1754											
ARHGEF38	54848	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	106534599	106534599	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagtccgtgcatcagatatCagccaagctgctgtcattgt	10	10	3	2	rs61751053	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:106534599C>A	ENST00000420470.2	+	3	587	c.443C>A	c.(442-444)tCa>tAa	p.S148*	ARHGEF38_ENST00000265154.2_Nonsense_Mutation_p.S148*	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	148	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						CATCAGATATCAGCCAAGCTG	0.433																																					p.S148X		.											.	ARHGEF38-292	0			c.C443A						.						184	167	173					4																	106534599		2203	4300	6503	SO:0001587	stop_gained	54848	exon3			AGATATCAGCCAA	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.443C>A	4.37:g.106534599C>A	ENSP00000416125:p.Ser148*	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	98	15	NM_001242729	0	0	0	0	0	C9JIB4	Nonsense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293694	0.95546	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	.	.	.	5.67	5.67	0.87782	.	0.075350	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0153	19.7657	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000265154:S148X	S	+	2	0	ARHGEF38	106754048	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.267000	0.65530	2.649000	0.89929	0.655000	0.94253	TCA	C|0.995;T|0.005		0.433	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		A	106534599	C	A	106534599	4	1	9	1	0	0	0	0	0	1	0	0	907	838	29	3	453	3	ARHGEF38	4	106534599	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2452033	106534599	84619677	168	1755											
CYP2U1	113612	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	108866353	108866353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccttgtgctttggccagCgctttgattacactaatagt	9	10	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:108866353C>A	ENST00000332884.6	+	2	993	c.718C>A	c.(718-720)Cgc>Agc	p.R240S	CYP2U1_ENST00000508453.1_Missense_Mutation_p.R31S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	240					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CTTTGGCCAGCGCTTTGATTA	0.448																																					p.R240S		.											.	CYP2U1-90	0			c.C718A						.						133	129	131					4																	108866353		2203	4300	6503	SO:0001583	missense	113612	exon2			GGCCAGCGCTTTG	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.718C>A	4.37:g.108866353C>A	ENSP00000333212:p.Arg240Ser	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	136	23	NM_183075	0	0	1	1	0	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622733	0.87460	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79940	-1.32;-1.32	5.63	5.63	0.86233	.	0.048575	0.85682	D	0.000000	D	0.90793	0.7109	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91596	0.5291	10	0.87932	D	0	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	240	Q7Z449	CP2U1_HUMAN	S	240;197;31	ENSP00000333212:R240S;ENSP00000423667:R31S	ENSP00000333212:R240S	R	+	1	0	CYP2U1	109085802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.570000	0.60872	2.652000	0.90054	0.655000	0.94253	CGC	.		0.448	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		A	108866353	C	A	108866353	3	1	9	1	0	0	0	0	1	0	0	0	4184	768	27	2	724	2	CYP2U1	4	108866353	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2331754	108866353	82287923	169	1756											
HADH	3033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	108944697	108944697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agactttagcaaagccctagGaaagcatcctgtttcttgca	8	10	1	1	rs144699575	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:108944697G>T	ENST00000309522.3	+	5	763	c.614G>T	c.(613-615)gGa>gTa	p.G205V	HADH_ENST00000505878.1_Missense_Mutation_p.G209V|HADH_ENST00000603302.1_Missense_Mutation_p.G205V|HADH_ENST00000454409.2_Missense_Mutation_p.G209V|HADH_ENST00000403312.1_Missense_Mutation_p.G264V	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	533					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)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|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)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AAAGCCCTAGGAAAGCATCCT	0.428																																					p.G205V		.											.	HADH-91	0			c.G614T						.						106	103	104					4																	108944697		2203	4300	6503	SO:0001583	missense	3033	exon5			CCCTAGGAAAGCA	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.614G>T	4.37:g.108944697G>T	ENSP00000312288:p.Gly205Val	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	131	17	NM_005327	0	0	74	86	12	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794309	0.90453	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	5.85	0.93711	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95484	0.8533	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.994	D	0.96865	0.9635	10	0.87932	D	0	-19.7449	20.1577	0.98120	0.0:0.0:1.0:0.0	.	264;209;205	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	V	205;205;209;209	ENSP00000312288:G205V;ENSP00000425952:G209V;ENSP00000395167:G209V	ENSP00000312288:G205V	G	+	2	0	HADH	109164146	1.000000	0.71417	0.884000	0.34674	0.865000	0.49528	9.694000	0.98686	2.767000	0.95098	0.655000	0.94253	GGA	G|0.999;C|0.001		0.428	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		T	108944697	G	T	108944697	3	4	9	1	0	0	0	0	1	0	0	0	6969	1174	41	3	632	3	HADH	4	108944697	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	78344	108944697	82209579	170	1757											
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	111441505	111441505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagagctaacccttctcaGcccccttcagatcttgggta	7	15	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:111441505G>T	ENST00000265162.5	+	10	2052	c.1710G>T	c.(1708-1710)caG>caT	p.Q570H	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	570					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCCTTCTCAGCCCCCTTCAG	0.413																																					p.Q570H		.											.	ENPEP-157	0			c.G1710T						.						106	95	99					4																	111441505		2203	4300	6503	SO:0001583	missense	2028	exon10			TTCTCAGCCCCCT	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1710G>T	4.37:g.111441505G>T	ENSP00000265162:p.Gln570His	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	165	14	NM_001977	0	0	3	3	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817654	0.32145	.	.	ENSG00000138792	ENST00000265162	T	0.01379	4.96	5.93	3.28	0.37604	.	0.675639	0.15533	N	0.257369	T	0.01421	0.0046	L	0.39020	1.185	0.41441	D	0.987928	B	0.12013	0.005	B	0.08055	0.003	T	0.54344	-0.8308	10	0.26408	T	0.33	.	6.7931	0.23711	0.2073:0.0:0.6668:0.1259	.	570	Q07075	AMPE_HUMAN	H	570	ENSP00000265162:Q570H	ENSP00000265162:Q570H	Q	+	3	2	ENPEP	111660954	1.000000	0.71417	0.938000	0.37757	0.865000	0.49528	2.253000	0.43205	0.838000	0.34948	0.650000	0.86243	CAG	.		0.413	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			T	111441505	G	T	111441505	3	4	9	1	0	0	0	0	1	0	0	0	5144	962	34	3	1748	3	ENPEP	4	111441505	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2496808	111441505	79712771	171	1758											
ANK2	287	broad.mit.edu;bcgsc.ca	37	chr4	114257869	114257869	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattcctgtccccaaagcttCaagtgatgtcatgttgaatg	8	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:114257869C>A	ENST00000357077.4	+	31	3781	c.3728C>A	c.(3727-3729)tCa>tAa	p.S1243*	ANK2_ENST00000506722.1_Nonsense_Mutation_p.S1234*|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S1210*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.S1243*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.S419*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1243	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)		CCCAAAGCTTCAAGTGATGTC	0.428																																					p.S1243X		.											.	ANK2-583	0			c.C3728A						.						123	115	117					4																	114257869		2203	4300	6503	SO:0001587	stop_gained	287	exon31			AAGCTTCAAGTGA	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.3728C>A	4.37:g.114257869C>A	ENSP00000349588:p.Ser1243*	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	193	8	NM_001148	0	0	2	2	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.137254|9.137254	0.99078|0.99078	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.285387	.|0.24937	.|N	.|0.034415	T|.	0.47544|.	0.1451|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37430|.	-0.9706|.	4|.	.|0.02654	.|T	.|1	.|.	19.387|19.387	0.94560|0.94560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	255|1156;1234;289;1258;1243;1243;1210;1234;419	.|.	.|ENSP00000264366:S1210X	F|S	+|+	3|2	2|0	ANK2|ANK2	114477318|114477318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.041000|4.041000	0.57339|0.57339	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	TTC|TCA	.		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114257869	C	A	114257869	4	1	9	1	0	0	0	0	0	1	0	0	621	838	29	3	3915	3	ANK2	4	114257869	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2816364	114257869	76896407	172	1759											
USP53	54532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	120182880	120182880	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttaaacagcttttttataGagttactgatgaaaatgcca	6	5	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:120182880G>T	ENST00000274030.6	+	12	2012	c.833G>T	c.(832-834)aGa>aTa	p.R278I	USP53_ENST00000450251.1_Missense_Mutation_p.R278I	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CTTTTTTATAGAGTTACTGAT	0.313																																					p.R278I		.											.	USP53-660	0			c.G833T						.						78	72	74					4																	120182880		1810	4077	5887	SO:0001583	missense	54532	exon11			TTTATAGAGTTAC	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.833G>T	4.37:g.120182880G>T	ENSP00000274030:p.Arg278Ile	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	97	19	NM_019050	0	0	0	0	0		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991698	0.93106	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.04970	3.52;3.52	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	M	0.77313	2.365	0.80722	D	1	D	0.59357	0.985	D	0.66497	0.944	T	0.00260	-1.1869	10	0.72032	D	0.01	-21.1319	20.0591	0.97667	0.0:0.0:1.0:0.0	.	278	Q70EK8	UBP53_HUMAN	I	278	ENSP00000274030:R278I;ENSP00000409906:R278I	ENSP00000274030:R278I	R	+	2	0	USP53	120402328	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.337000	0.96545	2.747000	0.94245	0.462000	0.41574	AGA	.		0.313	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		T	120182880	G	T	120182880	3	4	9	1	0	0	0	0	1	0	0	0	17133	942	33	3	863	3	USP53	4	120182880	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5925011	120182880	70971396	173	1760											
ANXA5	308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	122607510	122607510	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaatccagggaagtcagtCacagtgcctctgagaaccta	9	11	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:122607510C>A	ENST00000296511.5	-	3	312	c.27G>T	c.(25-27)gtG>gtT	p.V9V	ANXA5_ENST00000515017.1_Silent_p.V9V|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000501272.2_Intron	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	9					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GGAAGTCAGTCACAGTGCCTC	0.408																																					p.V9V	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	.											.	ANXA5-91	0			c.G27T						.						97	94	95					4																	122607510		2203	4300	6503	SO:0001819	synonymous_variant	308	exon3			GTCAGTCACAGTG	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.27G>T	4.37:g.122607510C>A		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	68	9	NM_001154	0	0	629	716	87	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	CCDS3720.1																																																																																			.		0.408	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		A	122607510	C	A	122607510	2	1	9	1	0	0	0	0	0	0	0	1	721	813	29	3		3	ANXA5	4	122607510	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2424630	122607510	68546766	174	1761											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126329878	126329878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcttgaattcatacaGcacatctttaatggagaatc	6	8	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126329878G>T	ENST00000394329.3	+	4	5862	c.5849G>T	c.(5848-5850)aGc>aTc	p.S1950I	FAT4_ENST00000335110.5_Missense_Mutation_p.S248I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1950	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCATACAGCACATCTTTA	0.323																																					p.S1950I		.											.	FAT4-108	0			c.G5849T						.						125	130	128					4																	126329878		2203	4300	6503	SO:0001583	missense	79633	exon4			CATACAGCACATC	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.5849G>T	4.37:g.126329878G>T	ENSP00000377862:p.Ser1950Ile	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	105	22	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060312	0.76074	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02656	4.21;4.21	5.43	5.43	0.79202	Cadherin (3);Cadherin-like (1);	0.000000	0.40469	U	0.001081	T	0.13543	0.0328	M	0.62154	1.92	0.53688	D	0.999973	P;D	0.63880	0.864;0.993	P;D	0.70487	0.755;0.969	T	0.01205	-1.1419	10	0.36615	T	0.2	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	248;1950	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	1950;248	ENSP00000377862:S1950I;ENSP00000335169:S248I	ENSP00000335169:S248I	S	+	2	0	FAT4	126549328	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.006000	0.70724	2.549000	0.85964	0.655000	0.94253	AGC	.		0.323	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126329878	G	T	126329878	3	4	9	1	0	0	0	0	1	0	0	0	5714	971	34	3	5863	3	FAT4	4	126329878	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3722368	126329878	64824398	175	1762											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126329907	126329907	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatggagaatctacctgtgGgatctactgttcttgtgttt	10	6	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126329907G>T	ENST00000394329.3	+	4	5891	c.5878G>T	c.(5878-5880)Gga>Tga	p.G1960*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G258*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1960	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTACCTGTGGGATCTACTGT	0.284																																					p.G1960X		.											.	FAT4-108	0			c.G5878T						.						128	132	131					4																	126329907		2203	4300	6503	SO:0001587	stop_gained	79633	exon4			CCTGTGGGATCTA	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.5878G>T	4.37:g.126329907G>T	ENSP00000377862:p.Gly1960*	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	86	33	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	47	13.693524	0.99758	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.23	5.23	0.72850	.	0.000000	0.33610	U	0.004730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8161	0.92077	0.0:0.0:1.0:0.0	.	.	.	.	X	1960;258	.	ENSP00000335169:G258X	G	+	1	0	FAT4	126549357	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.443000	0.80521	2.438000	0.82558	0.655000	0.94253	GGA	.		0.284	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126329907	G	T	126329907	4	4	9	1	0	0	0	0	0	1	0	0	5714	1233	43	3	5892	3	FAT4	4	126329907	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	29	126329907	64824369	176	1763											
FAT4	79633	broad.mit.edu;bcgsc.ca	37	chr4	126336106	126336106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcagtttactgttgacaaGaatggtgtactcaaagtcct	11	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126336106G>T	ENST00000394329.3	+	5	6001	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	FAT4_ENST00000335110.5_Missense_Mutation_p.K294N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1996	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTTGACAAGAATGGTGTAC	0.408																																					p.K1996N		.											.	FAT4-108	0			c.G5988T						.						120	124	123					4																	126336106		2203	4300	6503	SO:0001583	missense	79633	exon5			TGACAAGAATGGT	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.5988G>T	4.37:g.126336106G>T	ENSP00000377862:p.Lys1996Asn	Somatic	155	1		WXS	Illumina GAIIx	Phase_I	182	15	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	2.407	-0.336333	0.05278	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.23	3.47	0.39725	Cadherin (4);Cadherin-like (1);	0.202899	0.23137	U	0.051520	T	0.00998	0.0033	N	0.05230	-0.09	0.34871	D	0.743571	B;B	0.19817	0.004;0.039	B;B	0.20955	0.012;0.032	T	0.50145	-0.8862	10	0.19590	T	0.45	.	5.3067	0.15807	0.2295:0.3115:0.459:0.0	.	294;1996	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	1996;294	ENSP00000377862:K1996N;ENSP00000335169:K294N	ENSP00000335169:K294N	K	+	3	2	FAT4	126555556	0.581000	0.26741	0.009000	0.14445	0.247000	0.25773	0.443000	0.21644	0.572000	0.29383	0.650000	0.86243	AAG	.		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126336106	G	T	126336106	3	4	9	1	0	0	0	0	1	0	0	0	5714	933	33	3	6006	3	FAT4	4	126336106	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6199	126336106	64818170	177	1764											
FAT4	79633	broad.mit.edu;bcgsc.ca	37	chr4	126373173	126373173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccagggggtacttgtgatCtgaattcccagccaaggtcc	11	11	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:126373173C>A	ENST00000394329.3	+	9	11015	c.11002C>A	c.(11002-11004)Ctg>Atg	p.L3668M	FAT4_ENST00000335110.5_Missense_Mutation_p.L1966M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3668					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						TACTTGTGATCTGAATTCCCA	0.493																																					p.L3668M		.											.	FAT4-108	0			c.C11002A						.						123	120	121					4																	126373173		2203	4300	6503	SO:0001583	missense	79633	exon9			TGTGATCTGAATT	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.11002C>A	4.37:g.126373173C>A	ENSP00000377862:p.Leu3668Met	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	148	16	NM_024582	0	0	1	1	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884603	0.72410	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.26373	1.74;1.74	5.77	5.77	0.91146	.	0.000000	0.28182	U	0.016293	T	0.50531	0.1621	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.50162	-0.8860	10	0.87932	D	0	.	14.1809	0.65574	0.0:0.929:0.0:0.071	.	1966;3668;3668	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3668;1966	ENSP00000377862:L3668M;ENSP00000335169:L1966M	ENSP00000335169:L1966M	L	+	1	2	FAT4	126592623	0.996000	0.38824	0.576000	0.28549	0.945000	0.59286	2.631000	0.46502	2.724000	0.93272	0.561000	0.74099	CTG	.		0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126373173	C	A	126373173	3	1	9	1	0	0	0	0	1	0	0	0	5714	912	32	3	11036	3	FAT4	4	126373173	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	37067	126373173	64781103	178	1765											
GYPE	2996	ucsc.edu;bcgsc.ca	37	chr4	144797985	144797985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaataacacgagccatcgCccaccaattaatgagtgtta	6	10	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:144797985C>A	ENST00000358615.4	-	3	211	c.160G>T	c.(160-162)Gcg>Tcg	p.A54S	GYPE_ENST00000437468.2_Missense_Mutation_p.A54S	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	54						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A54T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CGAGCCATCGCCCACCAATTA	0.353																																					p.A54S		.											.	.	1	Substitution - Missense(1)	endometrium(1)	c.G160T						.						112	107	108					4																	144797985		1984	4188	6172	SO:0001583	missense	2996	exon3			CCATCGCCCACCA		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"Blood group antigens"	4705	protein-coding gene	gene with protein product		138590	"glycophorin E"				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.160G>T	4.37:g.144797985C>A	ENSP00000351430:p.Ala54Ser	Somatic	340	3		WXS	Illumina GAIIx	Phase_I	352	67	NM_198682	0	0	0	0	0	D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	37	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248264	0.00271	.	.	ENSG00000197465	ENST00000358615;ENST00000437468	T;T	0.03607	3.87;3.87	.	.	.	.	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	B	0.24483	0.104	B	0.13407	0.009	T	0.49051	-0.8979	6	0.09843	T	0.71	.	.	.	.	.	54	P15421	GLPE_HUMAN	S	54	ENSP00000351430:A54S;ENSP00000400698:A54S	ENSP00000351430:A54S	A	-	1	0	GYPE	145017435	0.148000	0.22702	0.045000	0.18777	0.070000	0.16714	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	GCG	.		0.353	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		A	144797985	C	A	144797985	3	1	9	1	0	0	0	0	1	0	0	0	6938	739	26	3	80	3	GYPE	4	144797985	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	18424812	144797985	46356291	179	1766											
HHIP	64399	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	145628246	145628246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcccacaatgtagaaaaaatCcacaccaagttgatttgaga	6	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:145628246C>A	ENST00000296575.3	+	6	1646	c.991C>A	c.(991-993)Cca>Aca	p.P331T		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	331					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TAGAAAAAATCCACACCAAGT	0.383																																					p.P331T		.											.	HHIP-283	0			c.C991A						.						77	76	76					4																	145628246		2203	4300	6503	SO:0001583	missense	64399	exon6			AAAAATCCACACC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.991C>A	4.37:g.145628246C>A	ENSP00000296575:p.Pro331Thr	Somatic	64	2		WXS	Illumina GAIIx	Phase_I	72	27	NM_022475	0	0	0	0	0	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302785	0.60195	.	.	ENSG00000164161	ENST00000296575	T	0.11385	2.78	5.58	5.58	0.84498	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.60067	1.865	0.80722	D	1	D	0.54397	0.966	P	0.55222	0.771	T	0.00115	-1.2038	10	0.41790	T	0.15	-12.9326	19.5658	0.95391	0.0:1.0:0.0:0.0	.	331	Q96QV1	HHIP_HUMAN	T	331	ENSP00000296575:P331T	ENSP00000296575:P331T	P	+	1	0	HHIP	145847696	1.000000	0.71417	0.987000	0.45799	0.899000	0.52679	5.767000	0.68850	2.606000	0.88127	0.655000	0.94253	CCA	.		0.383	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145628246	C	A	145628246	3	1	9	1	0	0	0	0	1	0	0	0	7119	855	30	3	1013	3	HHIP	4	145628246	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	830261	145628246	45526030	180	1767											
TTC29	83894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	147830262	147830262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccaggggcttctgcaGccagaagagggacctgactc	12	14	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:147830262G>T	ENST00000325106.4	-	5	542	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	TTC29_ENST00000513335.1_Missense_Mutation_p.L132M|TTC29_ENST00000398886.4_Missense_Mutation_p.L132M	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	106										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGCTTCTGCAGCCAGAAGAGG	0.572																																					p.L106M		.											.	TTC29-90	0			c.C316A						.						80	82	81					4																	147830262		1927	4128	6055	SO:0001583	missense	83894	exon5			TCTGCAGCCAGAA	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.316C>A	4.37:g.147830262G>T	ENSP00000316740:p.Leu106Met	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	53	15	NM_031956	0	0	0	0	0	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	G	4.449	0.083121	0.08533	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.92	-3.87	0.04218	.	1.681460	0.04104	N	0.313517	T	0.17023	0.0409	L	0.56769	1.78	0.09310	N	0.999997	B;B;B	0.30021	0.265;0.034;0.265	B;B;B	0.24394	0.036;0.053;0.036	T	0.13495	-1.0507	10	0.34782	T	0.22	1.3679	2.818	0.05463	0.2098:0.1334:0.5533:0.1034	.	106;132;106	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	M	132;132;106;106;106	ENSP00000423505:L132M;ENSP00000381861:L132M;ENSP00000316740:L106M;ENSP00000425778:L106M	ENSP00000316740:L106M	L	-	1	2	TTC29	148049712	0.010000	0.17322	0.004000	0.12327	0.141000	0.21300	0.041000	0.13927	-1.163000	0.02793	-0.345000	0.07892	CTG	.		0.572	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		T	147830262	G	T	147830262	3	4	9	1	0	0	0	0	1	0	0	0	16745	962	34	3	1147	3	TTC29	4	147830262	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2202016	147830262	43324014	181	1768											
ODZ3	55714	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	183696223	183696223	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaacatgactttgcctggcGagaacggtcaaaacttggtg	12	8	1	2	rs373628870		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:183696223G>T	ENST00000511685.1	+	24	5344	c.5221G>T	c.(5221-5223)Gag>Tag	p.E1741*	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Nonsense_Mutation_p.E1741*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1741					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)										TTTGCCTGGCGAGAACGGTCA	0.537																																					p.E1741X		.											.	.	0			c.G5221T						.						80	79	79					4																	183696223		2003	4164	6167	SO:0001587	stop_gained	55714	exon23			CCTGGCGAGAACG	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.5221G>T	4.37:g.183696223G>T	ENSP00000424226:p.Glu1741*	Somatic	204	2		WXS	Illumina GAIIx	Phase_I	178	71	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	45	12.000523	0.99626	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.0309	0.89283	0.0:0.0:1.0:0.0	.	.	.	.	X	1741	.	ENSP00000385276:E1741X	E	+	1	0	ODZ3	183933217	1.000000	0.71417	0.990000	0.47175	0.603000	0.37013	9.601000	0.98297	2.546000	0.85860	0.650000	0.86243	GAG	.		0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183696223	G	T	183696223	4	4	9	1	0	0	0	0	0	1	0	0	10875	1059	37	2	5311	2	ODZ3	4	183696223	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	35865961	183696223	7458053	182	1769											
PDLIM3	27295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	186427748	186427748	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggctgtgtgggctcattccGattgtcgtggagcatccggt	15	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:186427748G>T	ENST00000284770.5	-	6	794	c.721C>A	c.(721-723)Cgg>Agg	p.R241R	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R193R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	241					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GGCTCATTCCGATTGTCGTGG	0.642																																					p.R241R		.											.	PDLIM3-92	0			c.C721A						.						72	64	67					4																	186427748		2203	4300	6503	SO:0001819	synonymous_variant	27295	exon6			CATTCCGATTGTC	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.721C>A	4.37:g.186427748G>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	61	13	NM_014476	0	0	7	7	0	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	CCDS3844.1																																																																																			.		0.642	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		T	186427748	G	T	186427748	2	4	9	1	0	0	0	0	0	0	0	1	11720	1057	37	2		2	PDLIM3	4	186427748	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2731525	186427748	4726528	183	1770											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187534440	187534440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccatctgtggccctgacgaGaagatgataaacagcttgct	10	10	1	4	rs200812915		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:187534440G>T	ENST00000441802.2	-	13	9495	c.9286C>A	c.(9286-9288)Ctc>Atc	p.L3096I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3096	Cadherin 28. {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						GCCCTGACGAGAAGATGATAA	0.473										HNSCC(5;0.00058)																											p.L3096I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.C9286A						.						92	95	94					4																	187534440		2033	4167	6200	SO:0001583	missense	2195	exon13			TGACGAGAAGATG	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.9286C>A	4.37:g.187534440G>T	ENSP00000406229:p.Leu3096Ile	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	109	37	NM_005245	0	0	5	10	5		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	6.132	0.392525	0.11638	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01745	4.66	5.19	1.2	0.21068	Cadherin (4);Cadherin-like (1);	0.554792	0.18007	N	0.154710	T	0.00875	0.0029	N	0.02266	-0.62	0.09310	N	1	B	0.22080	0.064	B	0.30943	0.122	T	0.49532	-0.8930	10	0.18276	T	0.48	.	4.6896	0.12774	0.2275:0.0:0.4211:0.3514	.	3096	Q14517	FAT1_HUMAN	I	3096;3098	ENSP00000406229:L3096I	ENSP00000260147:L3098I	L	-	1	0	FAT1	187771434	0.003000	0.15002	0.003000	0.11579	0.641000	0.38312	0.927000	0.28818	0.337000	0.23665	0.609000	0.83330	CTC	G|0.999;C|0.000		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187534440	G	T	187534440	3	4	9	1	0	0	0	0	1	0	0	0	5711	942	33	3	4540	3	FAT1	4	187534440	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1106692	187534440	3619836	184	1771											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187629193	187629193	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtaccaactgaagttcatCtgcatcaatagcagaaacag	7	10	3	2	rs373653016		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr4:187629193C>A	ENST00000441802.2	-	2	1998	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	597	Cadherin 5. {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						TGAAGTTCATCTGCATCAATA	0.408										HNSCC(5;0.00058)																											p.D597Y	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G1789T						.						72	66	68					4																	187629193		1878	4114	5992	SO:0001583	missense	2195	exon2			GTTCATCTGCATC	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.1789G>T	4.37:g.187629193C>A	ENSP00000406229:p.Asp597Tyr	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	43	27	NM_005245	0	0	0	0	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812668	0.70912	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.60171	0.21	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88102	0.2820	10	0.72032	D	0.01	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	597	Q14517	FAT1_HUMAN	Y	597	ENSP00000406229:D597Y	ENSP00000260147:D597Y	D	-	1	0	FAT1	187866187	1.000000	0.71417	0.903000	0.35520	0.739000	0.42172	7.651000	0.83577	2.805000	0.96524	0.655000	0.94253	GAT	.		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187629193	C	A	187629193	3	1	9	1	0	0	0	0	1	0	0	0	5711	913	32	3	12081	3	FAT1	4	187629193	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	94753	187629193	3525083	185	1772											
SLC9A3	6550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	480044	480044	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggccgaccgtctcatgagGaccctgctgaggaacttcct	12	13	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:480044G>T	ENST00000264938.3	-	10	1563	c.1554C>A	c.(1552-1554)gtC>gtA	p.V518V	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.V509V|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	518					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)			GTCTCATGAGGACCCTGCTGA	0.607																																					p.V518V		.											.	SLC9A3-90	0			c.C1554A						.						111	111	111					5																	480044		2203	4300	6503	SO:0001819	synonymous_variant	6550	exon10			CATGAGGACCCTG		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.1554C>A	5.37:g.480044G>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	124	15	NM_004174	0	0	20	25	5	B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																			.		0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	480044	G	T	480044	2	4	9	1	0	0	0	0	0	0	0	1	14758	1161	41	3		3	SLC9A3	5	480044	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		480044	180435216	186	1773											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001047	0	0	0	2	2	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	9	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6153735	6633779	174281481	187	1774											
CCT5	22948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	10258587	10258587	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagctggatgtgacctctgtCgaagattataaagcccttca	9	9	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:10258587C>A	ENST00000280326.4	+	6	1233	c.813C>A	c.(811-813)gtC>gtA	p.V271V	CCT5_ENST00000515676.1_Silent_p.V233V|CCT5_ENST00000515390.1_Silent_p.V216V|CCT5_ENST00000506600.1_Silent_p.V178V|CCT5_ENST00000503026.1_Silent_p.V250V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	271					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGACCTCTGTCGAAGATTATA	0.398																																					p.V271V		.											.	CCT5-92	0			c.C813A						.						105	99	101					5																	10258587		2203	4300	6503	SO:0001819	synonymous_variant	22948	exon6			CTCTGTCGAAGAT	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.813C>A	5.37:g.10258587C>A		Somatic	206	0		WXS	Illumina GAIIx	Phase_I	244	34	NM_012073	0	0	125	160	35	A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	CCDS3877.1																																																																																			.		0.398	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			A	10258587	C	A	10258587	2	1	9	1	0	0	0	0	0	0	0	1	2963	871	31	2		2	CCT5	5	10258587	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3624808	10258587	170656673	188	1775											
CDH18	1016	ucsc.edu;bcgsc.ca	37	chr5	19721543	19721543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccataggtagggtcatctgCatcagtagctgtcacctgta	10	10	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:19721543C>A	ENST00000507958.1	-	7	1546	c.556G>T	c.(556-558)Gca>Tca	p.A186S	CDH18_ENST00000274170.4_Missense_Mutation_p.A186S|CDH18_ENST00000506372.1_Missense_Mutation_p.A186S|CDH18_ENST00000511273.1_Missense_Mutation_p.A186S|CDH18_ENST00000502796.1_Missense_Mutation_p.A186S|CDH18_ENST00000382275.1_Missense_Mutation_p.A186S			Q13634	CAD18_HUMAN	cadherin 18, type 2	186	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)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGGTCATCTGCATCAGTAGCT	0.433																																					p.A186S		.											.	CDH18-159	0			c.G556T						.						144	130	135					5																	19721543		2203	4300	6503	SO:0001583	missense	1016	exon5			CATCTGCATCAGT	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.556G>T	5.37:g.19721543C>A	ENSP00000425093:p.Ala186Ser	Somatic	287	2		WXS	Illumina GAIIx	Phase_I	307	39	NM_001167667	0	0	1	1	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718650	0.96839	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.5	5.5	0.81552	Cadherin (5);Cadherin-like (1);	0.113989	0.64402	D	0.000016	T	0.73094	0.3543	M	0.73598	2.24	0.52501	D	0.999959	P;P	0.42973	0.663;0.796	P;D	0.64506	0.884;0.926	T	0.70952	-0.4732	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	186;186	B4DHG6;Q13634	.;CAD18_HUMAN	S	186;186;186;186;186;186;132;186	ENSP00000371710:A186S;ENSP00000425093:A186S;ENSP00000274170:A186S;ENSP00000424931:A186S;ENSP00000422138:A186S;ENSP00000427383:A132S;ENSP00000425854:A186S	.	A	-	1	0	CDH18	19757300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCA	.		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19721543	C	A	19721543	3	1	9	1	0	0	0	0	1	0	0	0	3110	710	25	3	1852	3	CDH18	5	19721543	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9462956	19721543	161193717	189	1776											
PDZD2	23037	ucsc.edu;bcgsc.ca	37	chr5	32088697	32088697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtccgctgtctaaagtaGccaggcattttcacagtccg	9	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:32088697G>T	ENST00000438447.1	+	20	5531	c.5143G>T	c.(5143-5145)Gcc>Tcc	p.A1715S	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1715S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1715					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						GTCTAAAGTAGCCAGGCATTT	0.502																																					p.A1715S		.											.	PDZD2-563	0			c.G5143T						.						116	97	104					5																	32088697		2203	4300	6503	SO:0001583	missense	23037	exon19			AAAGTAGCCAGGC	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.5143G>T	5.37:g.32088697G>T	ENSP00000402033:p.Ala1715Ser	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	187	52	NM_178140	0	0	1	1	0	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271405	0.23221	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05447	3.44;3.44	4.94	-9.89	0.00464	.	1.946870	0.02020	N	0.047749	T	0.03783	0.0107	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.33343	-0.9872	10	0.10377	T	0.69	.	5.976	0.19379	0.1884:0.1181:0.5771:0.1163	.	1715	O15018	PDZD2_HUMAN	S	1715;1516;1715	ENSP00000402033:A1715S;ENSP00000282493:A1715S	ENSP00000282493:A1715S	A	+	1	0	PDZD2	32124454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.167000	0.00281	-2.458000	0.00538	-0.367000	0.07326	GCC	.		0.502	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32088697	G	T	32088697	3	4	9	1	0	0	0	0	1	0	0	0	11740	971	34	3	5217	3	PDZD2	5	32088697	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	12367154	32088697	148826563	190	1777											
RICTOR	253260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	38966809	38966809	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatcatcactgtttgttatCacttcaactagaccctttga	5	10	4	3	rs149142099		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:38966809C>A	ENST00000357387.3	-	15	1263	c.1233G>T	c.(1231-1233)gtG>gtT	p.V411V	RICTOR_ENST00000296782.5_Silent_p.V411V	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)					TGTTTGTTATCACTTCAACTA	0.284																																					p.V411V		.											.	RICTOR-849	0			c.G1233T						.						76	72	74					5																	38966809		2203	4297	6500	SO:0001819	synonymous_variant	253260	exon15			TGTTATCACTTCA		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.1233G>T	5.37:g.38966809C>A		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	170	17	NM_152756	0	0	0	1	1		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																			C|1.000;T|0.000		0.284	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		A	38966809	C	A	38966809	2	1	9	1	0	0	0	0	0	0	0	1	13403	813	29	3		3	RICTOR	5	38966809	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6878112	38966809	141948451	191	1778											
SKIV2L2	23517	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	54619984	54619984	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagacctgatgcccagagtCaaggtacaatcagttgaaac	10	10	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:54619984C>A	ENST00000230640.5	+	3	551	c.297C>A	c.(295-297)gtC>gtA	p.V99V	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	99					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCCCAGAGTCAAGGTACAAT	0.348																																					p.V99V	Melanoma(2;92 134 23744 29976 33782)	.											.	SKIV2L2-92	0			c.C297A						.						94	81	86					5																	54619984		2203	4300	6503	SO:0001819	synonymous_variant	23517	exon3			CAGAGTCAAGGTA	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.297C>A	5.37:g.54619984C>A		Somatic	168	1		WXS	Illumina GAIIx	Phase_I	167	49	NM_015360	0	0	6	8	2	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																			.		0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			A	54619984	C	A	54619984	2	1	9	1	0	0	0	0	0	0	0	1	14405	813	29	3		3	SKIV2L2	5	54619984	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15653175	54619984	126295276	192	1779											
KIF2A	3796	bcgsc.ca	37	chr5	61673487	61673487	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaactatttttattttaaGgaagaagaagtctctccaca	5	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:61673487G>T	ENST00000401507.3	+	18	2108		c.e18-1		KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Splice_Site|KIF2A_ENST00000407818.3_Splice_Site|KIF2A_ENST00000381103.2_Splice_Site	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTATTTTAAGGAAGAAGAAG	0.284																																					.		.											.	KIF2A-228	0			c.1912-1G>T						.						28	23	25					5																	61673487		2184	4266	6450	SO:0001630	splice_region_variant	3796	exon19			TTTTAAGGAAGAA	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1798-1G>T	5.37:g.61673487G>T		Somatic	140	2		WXS	Illumina GAIIx	Phase_I	191	17	NM_001098511	0	0	0	0	0	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Splice_Site	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	g	24.3	4.517141	0.85495	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857;ENST00000512006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF2A	61709244	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.295000	0.96095	2.882000	0.98803	0.574000	0.79327	.	.		0.284	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	Intron	T	61673487	G	T	61673487	5	4	9	1	0	0	0	0	0	0	1	0	8324	1014	35	3	1985	3	KIF2A	5	61673487	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7053503	61673487	119241773	193	1780											
RGNEF	64283	ucsc.edu	37	chr5	73142221	73142221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtggggatgaattggactCttttgagactaacactgaac	11	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:73142221C>A	ENST00000426542.2	+	11	1576	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S519Y|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S206Y			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	519					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GAATTGGACTCTTTTGAGACT	0.443																																					p.S519Y		.											.	.	0			c.C1556A						.						138	131	133					5																	73142221		1868	4097	5965	SO:0001583	missense	64283	exon12			TGGACTCTTTTGA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1556C>A	5.37:g.73142221C>A	ENSP00000412175:p.Ser519Tyr	Somatic	135	3		WXS	Illumina GAIIx	Phase_I	144	15	NM_001080479	0	0	0	0	0	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256600	0.80246	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.21734	2.23;2.19;2.2;2.04;2.19;2.2;1.99	5.69	5.69	0.88448	.	.	.	.	.	T	0.47764	0.1463	M	0.66939	2.045	0.36897	D	0.890209	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.997;0.968;0.999;0.986	T	0.53337	-0.8453	9	0.87932	D	0	.	18.565	0.91114	0.0:1.0:0.0:0.0	.	206;519;519;519;519	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	Y	519;519;519;519;519;519;206	ENSP00000296794:S519Y;ENSP00000441913:S519Y;ENSP00000441436:S519Y;ENSP00000287898:S519Y;ENSP00000411459:S519Y;ENSP00000412175:S519Y;ENSP00000296799:S206Y	ENSP00000287898:S519Y	S	+	2	0	RP11-428C6.1	73177977	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.844000	0.62846	2.688000	0.91661	0.484000	0.47621	TCT	.		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73142221	C	A	73142221	3	1	9	1	0	0	0	0	1	0	0	0	13328	913	32	3	1598	3	RGNEF	5	73142221	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11468734	73142221	107773039	194	1781											
CRHBP	1393	ucsc.edu;bcgsc.ca	37	chr5	76264679	76264679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaacccaaatggaaacaGtatcggggaattctgtttgt	11	6	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:76264679G>T	ENST00000274368.4	+	7	1360	c.938G>T	c.(937-939)aGt>aTt	p.S313I	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	313					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AATGGAAACAGTATCGGGGAA	0.433																																					p.S313I		.											.	CRHBP-90	0			c.G938T						.						143	131	135					5																	76264679		2203	4300	6503	SO:0001583	missense	1393	exon7			GAAACAGTATCGG	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.938G>T	5.37:g.76264679G>T	ENSP00000274368:p.Ser313Ile	Somatic	197	3		WXS	Illumina GAIIx	Phase_I	197	54	NM_001882	0	0	1	1	0	Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395861	0.62177	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.64	4.76	0.60689	.	0.042105	0.85682	D	0.000000	T	0.59169	0.2174	L	0.52573	1.65	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.59408	-0.7460	9	0.87932	D	0	-29.7394	16.2089	0.82146	0.0:0.0:0.8657:0.1343	.	313	P24387	CRHBP_HUMAN	I	313	.	ENSP00000274368:S313I	S	+	2	0	CRHBP	76300435	1.000000	0.71417	0.963000	0.40424	0.381000	0.30169	3.700000	0.54786	1.494000	0.48533	0.655000	0.94253	AGT	.		0.433	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		T	76264679	G	T	76264679	3	4	9	1	0	0	0	0	1	0	0	0	3877	1029	36	3	964	3	CRHBP	5	76264679	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3122458	76264679	104650581	195	1782											
MSH3	4437	hgsc.bcm.edu	37	chr5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagcggctgcagcgGccgcagcggccgcagcgccc	17	18	0	0	rs144776112|rs201874762		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.G169C						.						7	7	7					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	23	11	NM_002439	0	0	1	1	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.834;C|0.166		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950715	G	C	79950715	3	2	9	1	0	0	0	0	1	0	0	0	9909	1203	42	3	171	3	MSH3	5	79950715	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3686036	79950715	100964545	196	1783											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	89923239	89923239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caacaatggaaatctgattgGatctgatgaatatgaggttt	10	4	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:89923239G>T	ENST00000405460.2	+	7	980	c.884G>T	c.(883-885)gGa>gTa	p.G295V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	295	Calx-beta 3. {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)		AATCTGATTGGATCTGATGAA	0.418																																					p.G295V		.											.	GPR98-103	0			c.G884T						.						143	136	139					5																	89923239		1925	4133	6058	SO:0001583	missense	84059	exon7			TGATTGGATCTGA	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.884G>T	5.37:g.89923239G>T	ENSP00000384582:p.Gly295Val	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	168	23	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169338	0.78339	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.35605	1.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	19.8276	0.96624	0.0:0.0:1.0:0.0	.	295	Q8WXG9	GPR98_HUMAN	V	295	ENSP00000384582:G295V	ENSP00000296619:G295V	G	+	2	0	GPR98	89958995	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.048000	0.71046	2.697000	0.92050	0.585000	0.79938	GGA	.		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89923239	G	T	89923239	3	4	9	1	0	0	0	0	1	0	0	0	6748	1174	41	3	910	3	GPR98	5	89923239	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9972524	89923239	90992021	197	1784											
GPR98	84059	broad.mit.edu	37	chr5	90106472	90106472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggataatgatgacctggcagGaatggatatttccttccccg	11	9	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:90106472G>T	ENST00000405460.2	+	74	15491	c.15395G>T	c.(15394-15396)gGa>gTa	p.G5132V	GPR98_ENST00000425867.2_Missense_Mutation_p.G793V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5132					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)		GACCTGGCAGGAATGGATATT	0.428																																					p.G5132V		.											.	GPR98-103	0			c.G15395T						.						165	164	165					5																	90106472		1938	4140	6078	SO:0001583	missense	84059	exon74			TGGCAGGAATGGA	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.15395G>T	5.37:g.90106472G>T	ENSP00000384582:p.Gly5132Val	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	86	4	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	3.418	-0.118824	0.06838	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.54866	1.18;0.55	5.23	-1.77	0.07982	.	0.965261	0.08547	N	0.929559	T	0.35828	0.0945	L	0.42245	1.32	0.19945	N	0.999941	B;B;B	0.10296	0.002;0.0;0.003	B;B;B	0.12156	0.005;0.0;0.007	T	0.26815	-1.0092	9	.	.	.	.	1.0652	0.01609	0.4127:0.1539:0.2761:0.1573	.	793;5132;793	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	5132;5132;793	ENSP00000384582:G5132V;ENSP00000392618:G793V	.	G	+	2	0	GPR98	90142228	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.302000	0.08221	-0.038000	0.13624	0.563000	0.77884	GGA	.		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90106472	G	T	90106472	3	4	9	1	0	0	0	0	1	0	0	0	6748	1174	41	3	15689	3	GPR98	5	90106472	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	183233	90106472	90808788	198	1785											
SPATA9	83890	ucsc.edu;bcgsc.ca	37	chr5	95018528	95018528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcttcaacacctgccCacatatccacccaacaggtt	4	15	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:95018528C>A	ENST00000274432.8	-	1	172	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.G11W|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	11					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AACACCTGCCCACATATCCAC	0.468																																					p.G11W		.											.	SPATA9-90	0			c.G31T						.						148	140	143					5																	95018528		2203	4300	6503	SO:0001583	missense	83890	exon1			CCTGCCCACATAT	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.31G>T	5.37:g.95018528C>A	ENSP00000274432:p.Gly11Trp	Somatic	136	2		WXS	Illumina GAIIx	Phase_I	191	34	NM_031952	0	0	0	0	0	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535670	0.64972	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.65549	-0.16	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000251	T	0.67664	0.2917	L	0.27053	0.805	0.39308	D	0.965029	D	0.89917	1.0	D	0.97110	1.0	T	0.72411	-0.4302	10	0.87932	D	0	-17.2063	13.2272	0.59921	0.0:1.0:0.0:0.0	.	11	Q9BWV2	SPAT9_HUMAN	W	11	ENSP00000274432:G11W	ENSP00000274432:G11W	G	-	1	0	SPATA9	95044284	0.994000	0.37717	1.000000	0.80357	0.970000	0.65996	2.371000	0.44248	2.477000	0.83638	0.563000	0.77884	GGG	.		0.468	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		A	95018528	C	A	95018528	3	1	9	1	0	0	0	0	1	0	0	0	15063	594	21	3	753	3	SPATA9	5	95018528	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4912056	95018528	85896732	199	1786											
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	chr5	115837909	115837909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggccccttacctaGcagcaatgtagagggttccg	13	10	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:115837909G>T	ENST00000343348.6	-	3	1002	c.215C>A	c.(214-216)gCt>gAt	p.A72D	SEMA6A_ENST00000257414.8_Missense_Mutation_p.A72D|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A72D|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	72	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)		CCCTTACCTAGCAGCAATGTA	0.488																																					p.A72D		.											.	SEMA6A-92	0			c.C215A						.						201	200	200					5																	115837909		2015	4158	6173	SO:0001583	missense	57556	exon3			TACCTAGCAGCAA	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.215C>A	5.37:g.115837909G>T	ENSP00000345512:p.Ala72Asp	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	228	11	NM_020796	0	0	0	0	0	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525205	0.64747	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.44482	1.07;1.07;1.07;0.92;0.92	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.107041	0.64402	D	0.000007	T	0.44393	0.1291	L	0.58583	1.82	0.80722	D	1	B;B	0.30634	0.148;0.288	B;B	0.28709	0.093;0.056	T	0.45760	-0.9239	10	0.87932	D	0	.	18.929	0.92556	0.0:0.0:1.0:0.0	.	72;72	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	D	72	ENSP00000345512:A72D;ENSP00000257414:A72D;ENSP00000424388:A72D;ENSP00000421935:A72D;ENSP00000425553:A72D	ENSP00000257414:A72D	A	-	2	0	SEMA6A	115865808	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	7.637000	0.83313	2.575000	0.86900	0.650000	0.86243	GCT	.		0.488	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		T	115837909	G	T	115837909	3	4	9	1	0	0	0	0	1	0	0	0	14084	971	34	3	2945	3	SEMA6A	5	115837909	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	20819381	115837909	65077351	200	1787											
CCNI2	645121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	132087879	132087879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctatatctgatctgctaaaGaaagcacaggtagacatcaa	7	9	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132087879G>T	ENST00000378731.1	+	5	1047	c.996G>T	c.(994-996)aaG>aaT	p.K332N	SEPT8_ENST00000378719.2_Intron|SEPT8_ENST00000481030.1_Intron	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	332					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTGCTAAAGAAAGCACAGG	0.532																																					p.K332N		.											.	CCNI2-68	0			c.G996T						.						27	24	25					5																	132087879		2202	4300	6502	SO:0001583	missense	645121	exon5			GCTAAAGAAAGCA	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.996G>T	5.37:g.132087879G>T	ENSP00000368005:p.Lys332Asn	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	157	18	NM_001039780	0	0	0	0	0	B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	37	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495260	0.64186	.	.	ENSG00000205089	ENST00000378731	T	0.47177	0.85	5.6	5.6	0.85130	.	0.103125	0.64402	D	0.000004	T	0.61949	0.2388	M	0.68952	2.095	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.62435	0.861;0.902;0.874	T	0.63567	-0.6608	10	0.62326	D	0.03	.	11.06	0.47942	0.1122:0.0:0.8878:0.0	.	333;348;332	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	N	332	ENSP00000368005:K332N	ENSP00000368005:K332N	K	+	3	2	CCNI2	132115778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.314000	0.43743	2.789000	0.95967	0.651000	0.88453	AAG	.		0.532	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780		T	132087879	G	T	132087879	3	4	9	1	0	0	0	0	1	0	0	0	2934	933	33	3	1014	3	CCNI2	5	132087879	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	16249970	132087879	48827381	201	1788											
SEPT8	23176	hgsc.bcm.edu;bcgsc.ca	37	chr5	132097158	132097158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctgtcacctgaagggCtggctgtcaccatcgctgtc	12	13	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132097158C>A	ENST00000378719.2	-	7	1191	c.954G>T	c.(952-954)caG>caT	p.Q318H	SEPT8_ENST00000378721.4_Missense_Mutation_p.Q316H|SEPT8_ENST00000448933.1_Missense_Mutation_p.Q258H|SEPT8_ENST00000296873.7_Missense_Mutation_p.Q318H|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378706.1_Missense_Mutation_p.Q318H|SEPT8_ENST00000378699.2_Missense_Mutation_p.Q258H|SEPT8_ENST00000458488.2_Missense_Mutation_p.Q318H|SEPT8_ENST00000378701.1_Missense_Mutation_p.Q316H	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	318					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGAAGGGCTGGCTGTCAC	0.612																																					p.Q318H		.											.	SEPT8-70	0			c.G954T						.						56	62	60					5																	132097158		2168	4280	6448	SO:0001583	missense	23176	exon7			GAAGGGCTGGCTG	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.954G>T	5.37:g.132097158C>A	ENSP00000367991:p.Gln318His	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	60	6	NM_015146	0	0	0	0	0	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054573	0.55218	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.28	2.51	0.30379	.	0.191448	0.46758	N	0.000274	T	0.77798	0.4184	L	0.43923	1.385	0.52099	D	0.999943	P;P;P;P	0.47604	0.832;0.832;0.739;0.898	P;B;P;P	0.45474	0.45;0.332;0.482;0.45	T	0.74937	-0.3494	10	0.87932	D	0	.	8.3549	0.32324	0.0:0.7308:0.1285:0.1407	.	316;316;318;318	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	318;316;318;258;318;258;316;318	ENSP00000367991:Q318H;ENSP00000367993:Q316H;ENSP00000296873:Q318H;ENSP00000399840:Q258H;ENSP00000367978:Q318H;ENSP00000367971:Q258H;ENSP00000367973:Q316H;ENSP00000394766:Q318H	ENSP00000296873:Q318H	Q	-	3	2	SEPT8	132125057	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.698000	0.47068	0.221000	0.20879	0.561000	0.74099	CAG	.		0.612	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		A	132097158	C	A	132097158	3	1	9	1	0	0	0	0	1	0	0	0	14115	796	28	3	568	3	SEPT8	5	132097158	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9279	132097158	48818102	202	1789											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	9	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	52526	132149684	48765576	203	1790											
AFF4	27125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	132272803	132272803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagctaggtgggaaggCgtcttcgccctgctgaattt	15	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:132272803C>T	ENST00000265343.5	-	2	458	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.A27T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	27					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)			GGTGGGAAGGCGTCTTCGCCC	0.443																																					p.A27T	Ovarian(126;889 1733 2942 10745 11605)	.											.	AFF4-229	0			c.G79A						.						108	90	96					5																	132272803		2203	4300	6503	SO:0001583	missense	27125	exon2			GGAAGGCGTCTTC	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.79G>A	5.37:g.132272803C>T	ENSP00000265343:p.Ala27Thr	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	150	10	NM_014423	0	0	3	3	0	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444321	0.83993	.	.	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.66638	-0.22;-0.22;-0.22	5.73	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.42487	1.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.992;0.996;0.996	T	0.67975	-0.5531	10	0.12430	T	0.62	-0.4089	16.4417	0.83903	0.0:0.7519:0.2481:0.0	.	27;27;27	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	T	27	ENSP00000265343:A27T;ENSP00000367858:A27T;ENSP00000395268:A27T	ENSP00000265343:A27T	A	-	1	0	AFF4	132300702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.079000	0.50104	0.745000	0.32763	0.557000	0.71058	GCC	.		0.443	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		T	132272803	C	T	132272803	3	4	9	1	0	0	0	0	1	0	0	0	359	768	27	1	3492	1	AFF4	5	132272803	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	123119	132272803	48642457	204	1791											
PCDHA6	56142	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	140207893	140207893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggcctccaaagaccgcgagGaccttctggaggtaaatctg	12	11	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140207893G>T	ENST00000529310.1	+	1	331	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D73Y	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGCGAGGACCTTCTGGA	0.627																																					p.D73Y		.											.	PCDHA6-92	0			c.G217T						.						111	127	121					5																	140207893		2203	4300	6503	SO:0001583	missense	56142	exon1			CGCGAGGACCTTC	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.217G>T	5.37:g.140207893G>T	ENSP00000433378:p.Asp73Tyr	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	162	12	NM_031849	0	0	1	1	0	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564422	0.27915	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.28069	1.63;1.63	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001602	T	0.53997	0.1831	M	0.84156	2.68	0.21290	N	0.999735	D;D;D	0.71674	0.998;0.977;0.969	P;P;P	0.62435	0.885;0.902;0.901	T	0.51100	-0.8748	10	0.87932	D	0	.	13.354	0.60617	0.0:0.1721:0.8279:0.0	.	73;73;73	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Y	73	ENSP00000433378:D73Y;ENSP00000434113:D73Y	ENSP00000434113:D73Y	D	+	1	0	PCDHA6	140188077	0.001000	0.12720	0.996000	0.52242	0.300000	0.27592	0.695000	0.25527	2.139000	0.66308	0.313000	0.20887	GAC	.		0.627	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		T	140207893	G	T	140207893	3	4	9	1	0	0	0	0	1	0	0	0	11567	1174	41	3	219	3	PCDHA6	5	140207893	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7935090	140207893	40707367	205	1792											
PCDHB13	56123	ucsc.edu	37	chr5	140594815	140594815	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacttttcagtgtttcagatCttgattcaggagaaaatggg	10	6	4	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140594815C>A	ENST00000341948.4	+	1	1307	c.1120C>A	c.(1120-1122)Ctt>Att	p.L374I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCAGATCTTGATTCAGG	0.463																																					p.L374I		.											.	PCDHB13-93	0			c.C1120A						.						149	143	145					5																	140594815		2203	4300	6503	SO:0001583	missense	56123	exon1			TCAGATCTTGATT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1120C>A	5.37:g.140594815C>A	ENSP00000345491:p.Leu374Ile	Somatic	187	5		WXS	Illumina GAIIx	Phase_I	241	51	NM_018933	0	0	4	8	4	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	12.77	2.037812	0.35989	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01745	4.66	3.5	0.191	0.15130	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02230	0.0069	L	0.47716	1.5	0.09310	N	1	B	0.13145	0.007	B	0.19666	0.026	T	0.40459	-0.9562	9	0.51188	T	0.08	.	7.8069	0.29209	0.2959:0.4152:0.2888:0.0	.	374	Q9Y5F0	PCDBD_HUMAN	I	374	ENSP00000345491:L374I	ENSP00000345491:L374I	L	+	1	0	PCDHB13	140574999	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-1.596000	0.02091	-0.246000	0.09611	0.298000	0.19748	CTT	.		0.463	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140594815	C	A	140594815	3	1	9	1	0	0	0	0	1	0	0	0	11577	913	32	3	1122	3	PCDHB13	5	140594815	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	386922	140594815	40320445	206	1793											
PCDHGA7	56108	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140763290	140763290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggacgagggagtcaatgGggaagtgacatattcttttc	13	7	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:140763290G>T	ENST00000518325.1	+	1	824	c.824G>T	c.(823-825)gGg>gTg	p.G275V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCAATGGGGAAGTGACA	0.438																																					p.G275V		.											.	.	0			c.G824T						.						51	51	51					5																	140763290		1943	4139	6082	SO:0001583	missense	56108	exon1			TCAATGGGGAAGT	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.824G>T	5.37:g.140763290G>T	ENSP00000430024:p.Gly275Val	Somatic	127	2		WXS	Illumina GAIIx	Phase_I	182	44	NM_032087	0	0	0	0	0	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.323856	0.60634	.	.	ENSG00000253537	ENST00000518325	T	0.44881	0.91	5.3	4.37	0.52481	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70868	0.3273	M	0.92219	3.285	0.49582	D	0.999808	D;D	0.61080	0.98;0.989	D;D	0.74023	0.982;0.929	T	0.78481	-0.2187	9	0.87932	D	0	.	14.3455	0.66658	0.0:0.2703:0.7297:0.0	.	275;275	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	275	ENSP00000430024:G275V	ENSP00000430024:G275V	G	+	2	0	PCDHGA7	140743474	0.994000	0.37717	0.997000	0.53966	0.994000	0.84299	2.197000	0.42696	2.627000	0.88993	0.655000	0.94253	GGG	.		0.438	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		T	140763290	G	T	140763290	3	4	9	1	0	0	0	0	1	0	0	0	11598	1232	43	3	826	3	PCDHGA7	5	140763290	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	168475	140763290	40151970	207	1794											
ARHGAP26	23092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	142264925	142264925	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcatcttagaaaaacacttGaatttgtcttccaaaaagaa	6	7	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:142264925G>T	ENST00000274498.4	+	5	825	c.447G>T	c.(445-447)ttG>ttT	p.L149F	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.L149F	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	149					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAACACTTGAATTTGTCTT	0.333																																					p.L149F		.											.	ARHGAP26-660	0			c.G447T						.						104	114	111					5																	142264925		2203	4300	6503	SO:0001583	missense	23092	exon5			ACACTTGAATTTG	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.447G>T	5.37:g.142264925G>T	ENSP00000274498:p.Leu149Phe	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	296	75	NM_015071	0	0	0	0	0	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285720	0.59867	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000378013	T;T;T	0.35605	1.3;1.3;1.3	5.9	5.03	0.67393	IRSp53/MIM homology domain (IMD) (2);	0.067048	0.64402	D	0.000016	T	0.57829	0.2080	M	0.77103	2.36	0.58432	D	0.999996	D;D	0.67145	0.996;0.993	D;D	0.70716	0.97;0.954	T	0.62129	-0.6919	10	0.72032	D	0.01	.	10.1319	0.42685	0.1915:0.0:0.8085:0.0	.	149;149	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	F	149;149;121	ENSP00000274498:L149F;ENSP00000367243:L149F;ENSP00000367252:L121F	ENSP00000274498:L149F	L	+	3	2	ARHGAP26	142245109	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	0.328000	0.19681	1.499000	0.48617	0.563000	0.77884	TTG	.		0.333	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		T	142264925	G	T	142264925	3	4	9	1	0	0	0	0	1	0	0	0	875	1281	45	3	465	3	ARHGAP26	5	142264925	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1501635	142264925	38650335	208	1795											
ITK	3702	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	156671402	156671402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacccagcggggactttttGctgcagagaccctgctgggc	14	13	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:156671402G>T	ENST00000422843.3	+	13	1515	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	455	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)	GGGACTTTTTGCTGCAGAGAC	0.572			T	SYK	peripheral T-cell lymphoma																																p.A455S	Esophageal Squamous(70;1378 1469 8785 19883)	.		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	ITK-1427	0			c.G1363T						.						96	94	94					5																	156671402		2203	4300	6503	SO:0001583	missense	3702	exon13			CTTTTTGCTGCAG	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.1363G>T	5.37:g.156671402G>T	ENSP00000398655:p.Ala455Ser	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	123	43	NM_005546	0	0	0	0	0	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731520	0.15507	.	.	ENSG00000113263	ENST00000422843	T	0.59364	0.27	6.08	4.15	0.48705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.214218	0.50627	D	0.000114	T	0.18551	0.0445	N	0.00738	-1.235	0.38184	D	0.939711	B	0.02656	0.0	B	0.04013	0.001	T	0.42258	-0.9462	10	0.02654	T	1	.	7.1791	0.25761	0.086:0.0:0.6:0.3139	.	455	Q08881	ITK_HUMAN	S	455	ENSP00000398655:A455S	ENSP00000398655:A455S	A	+	1	0	ITK	156603980	0.999000	0.42202	0.995000	0.50966	0.917000	0.54804	1.433000	0.34947	2.894000	0.99253	0.591000	0.81541	GCT	.		0.572	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			T	156671402	G	T	156671402	3	4	9	1	0	0	0	0	1	0	0	0	7936	1319	46	3	1413	3	ITK	5	156671402	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	14406477	156671402	24243858	209	1796											
CYFIP2	26999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	156753261	156753261	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaagcagttcctgtacgatGagatagaagctgaggcaagt	12	6	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:156753261G>T	ENST00000521420.1	+	17	2078	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.E388*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.E689*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.E714*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.E614*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.E689*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.E493*|CYFIP2_ENST00000520960.1_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTACGATGAGATAGAAGC	0.433																																					p.E689X		.											.	CYFIP2-22	0			c.G2065T						.						161	158	159					5																	156753261		1954	4143	6097	SO:0001587	stop_gained	26999	exon18			TACGATGAGATAG	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1987G>T	5.37:g.156753261G>T	ENSP00000430904:p.Glu663*	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	129	21	NM_001037332	0	0	4	4	0		Nonsense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	G	42	9.795583	0.99266	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.153	18.5881	0.91197	0.0:0.0:1.0:0.0	.	.	.	.	X	714;493;663;689;689;614;388	.	ENSP00000325817:E714X	E	+	1	0	CYFIP2	156685839	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.759000	0.98931	2.457000	0.83068	0.655000	0.94253	GAG	.		0.433	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		T	156753261	G	T	156753261	4	4	9	1	0	0	0	0	0	1	0	0	4147	1291	45	3	2131	3	CYFIP2	5	156753261	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	81859	156753261	24161999	210	1797											
IL12B	3593	bcgsc.ca	37	chr5	158750252	158750252	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctggtccaaggtccaggtGataccatcttcttcaggggt	11	11	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:158750252G>T	ENST00000231228.2	-	3	629	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	58	Ig-like C2-type.				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)			AGGTCCAGGTGATACCATCTT	0.502																																					p.I58I		.											.	IL12B-90	0			c.C174A						.						94	84	88					5																	158750252		2203	4300	6503	SO:0001819	synonymous_variant	3593	exon3			CCAGGTGATACCA	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.174C>A	5.37:g.158750252G>T		Somatic	142	3		WXS	Illumina GAIIx	Phase_I	148	43	NM_002187	0	0	0	0	0		Silent	SNP	ENST00000231228.2	37	CCDS4346.1																																																																																			.		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		T	158750252	G	T	158750252	2	4	9	1	0	0	0	0	0	0	0	1	7652	1280	45	3		3	IL12B	5	158750252	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1996991	158750252	22165008	211	1798											
RANBP17	64901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	170668124	170668124	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgtcaaaatgctgctgtCagtgtcccacagtgacttgc	9	10	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:170668124C>A	ENST00000523189.1	+	23	2779	c.2615C>A	c.(2614-2616)tCa>tAa	p.S872*	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	872					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGCTGCTGTCAGTGTCCCAC	0.433			T	TRD@	ALL																																p.S872X		.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17-524	0			c.C2615A						.						149	140	143					5																	170668124		2203	4300	6503	SO:0001587	stop_gained	64901	exon23			TGCTGTCAGTGTC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2615C>A	5.37:g.170668124C>A	ENSP00000427975:p.Ser872*	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	110	29	NM_022897	0	0	6	6	0	Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	43	9.941746	0.99300	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	.	.	.	5.56	4.69	0.59074	.	0.144353	0.32231	N	0.006392	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-4.9965	14.4038	0.67068	0.0:0.9291:0.0:0.0709	.	.	.	.	X	872;302	.	ENSP00000427975:S872X	S	+	2	0	RANBP17	170600729	1.000000	0.71417	0.946000	0.38457	0.997000	0.91878	7.818000	0.86416	1.357000	0.45904	0.650000	0.86243	TCA	.		0.433	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		A	170668124	C	A	170668124	4	1	9	1	0	0	0	0	0	1	0	0	13072	838	29	3	2705	3	RANBP17	5	170668124	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11917872	170668124	10247136	212	1799											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	9	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5124481	175792605	5122655	213	1800											
COL23A1	91522	broad.mit.edu;ucsc.edu	37	chr5	177690260	177690260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagtgtcgccaggaggGccccgggccccaggaggtcc	15	16	0	0	rs369913463		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:177690260G>T	ENST00000390654.3	-	9	945	c.588C>A	c.(586-588)ggC>ggA	p.G196G	COL23A1_ENST00000407622.1_Silent_p.G160G	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	196	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CGCCAGGAGGGCCCCGGGCCC	0.657																																					p.G196G		.											.	COL23A1-91	0			c.C588A						.	G		0,3716		0,0,1858	28	30	29		588	-1.6	1	5		29	1,8175		0,1,4087	no	coding-synonymous	COL23A1	NM_173465.3		0,1,5945	TT,TG,GG		0.0122,0.0,0.0084		196/541	177690260	1,11891	1858	4088	5946	SO:0001819	synonymous_variant	91522	exon9			AGGAGGGCCCCGG	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.588C>A	5.37:g.177690260G>T		Somatic	48	1		WXS	Illumina GAIIx	Phase_I	78	13	NM_173465	0	0	0	0	0	Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	CCDS4436.1																																																																																			.		0.657	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		T	177690260	G	T	177690260	2	4	9	1	0	0	0	0	0	0	0	1	3689	1190	42	3		3	COL23A1	5	177690260	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1897655	177690260	3225000	214	1801											
BTNL3	10917	broad.mit.edu	37	chr5	180432368	180432368	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatccagagacggctcacccGaagctctgcgtttctgatct	10	13	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180432368G>T	ENST00000342868.6	+	8	1081	c.897G>T	c.(895-897)ccG>ccT	p.P299P	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CGGCTCACCCGAAGCTCTGCG	0.532																																					p.P299P		.											.	.	0			c.G897T						.						39	45	43					5																	180432368		2199	4274	6473	SO:0001819	synonymous_variant	10917	exon8			TCACCCGAAGCTC	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.897G>T	5.37:g.180432368G>T		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	124	3	NM_197975	0	0	0	0	0	Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	CCDS47358.1																																																																																			.		0.532	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		T	180432368	G	T	180432368	2	4	9	1	0	0	0	0	0	0	0	1	1570	1045	37	2		2	BTNL3	5	180432368	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2742108	180432368	482892	215	1802											
BTNL9	153579	broad.mit.edu;bcgsc.ca	37	chr5	180477228	180477228	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgcctgcctccagagtttGaagccatcgtctgggatgcc	12	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180477228G>T	ENST00000327705.9	+	4	826	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	BTNL9_ENST00000376841.2_Nonsense_Mutation_p.E199*|BTNL9_ENST00000376842.3_Nonsense_Mutation_p.E199*|BTNL9_ENST00000515271.1_Nonsense_Mutation_p.E130*	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	199						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)			TCCAGAGTTTGAAGCCATCGT	0.572																																					p.E199X		.											.	BTNL9-91	0			c.G595T						.						117	114	115					5																	180477228		2203	4300	6503	SO:0001587	stop_gained	153579	exon4			GAGTTTGAAGCCA	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.595G>T	5.37:g.180477228G>T	ENSP00000330200:p.Glu199*	Somatic	180	2		WXS	Illumina GAIIx	Phase_I	170	10	NM_152547	0	0	3	3	0	A6NL42|Q6P660|Q96DM5	Nonsense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639781	0.87760	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	.	.	.	4.58	3.71	0.42584	.	0.000000	0.42682	D	0.000677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.1157	0.25414	0.2005:0.0:0.7995:0.0	.	.	.	.	X	199;199;199;199;130	.	ENSP00000330200:E199X	E	+	1	0	BTNL9	180409834	0.982000	0.34865	0.839000	0.33178	0.280000	0.26924	2.177000	0.42509	1.307000	0.44944	0.650000	0.86243	GAA	.		0.572	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180477228	G	T	180477228	4	4	9	1	0	0	0	0	0	1	0	0	1572	1291	45	3	605	3	BTNL9	5	180477228	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	44860	180477228	438032	216	1803											
OR2V2	285659	broad.mit.edu;bcgsc.ca	37	chr5	180582781	180582781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctctatcttctacaCggtccttactcccatgctca	7	15	4	0	rs200222451		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr5:180582781C>T	ENST00000328275.1	+	1	839	c.839C>T	c.(838-840)aCg>aTg	p.T280M		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	280						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)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTTCTACACGGTCCTTACT	0.592													c|||	1	0.000199681	0	0	5008	,	,		18706	0.001		0	False		,,,				2504	0				p.T280M		.											.	OR2V2-69	0			c.C839T						.	C	MET/THR	0,4406		0,0,2203	49	50	50		839	1.7	0.7	5		50	1,8599		0,1,4299	no	missense	OR2V2	NM_206880.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/316	180582781	1,13005	2203	4300	6503	SO:0001583	missense	285659	exon1			TCTACACGGTCCT	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.839C>T	5.37:g.180582781C>T	ENSP00000332185:p.Thr280Met	Somatic	257	1		WXS	Illumina GAIIx	Phase_I	239	12	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	9.348	1.064863	0.20067	0.0	1.16E-4	ENSG00000182613	ENST00000328275	T	0.00262	8.4	3.48	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.198103	0.25186	N	0.032483	T	0.00552	0.0018	M	0.88906	2.99	0.29317	N	0.867637	D	0.89917	1.0	D	0.97110	1.0	T	0.25363	-1.0134	10	0.87932	D	0	.	7.1916	0.25828	0.0:0.7698:0.0:0.2302	.	280	Q96R30	OR2V2_HUMAN	M	280	ENSP00000332185:T280M	ENSP00000332185:T280M	T	+	2	0	OR2V2	180515387	0.000000	0.05858	0.711000	0.30485	0.045000	0.14185	0.716000	0.25836	0.291000	0.22468	0.305000	0.20034	ACG	C|0.999;T|0.000		0.592	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			T	180582781	C	T	180582781	3	4	9	1	0	0	0	0	1	0	0	0	11070	536	19	1	841	1	OR2V2	5	180582781	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	105553	180582781	332479	217	1804											
NQO2	4835	broad.mit.edu	37	chr6	3012810	3012810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctgaggttttcaattatGgagtggaaacccacgaagcc	10	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:3012810G>T	ENST00000338130.2	+	7	917	c.205G>T	c.(205-207)Gga>Tga	p.G69*	NQO2_ENST00000380455.4_Nonsense_Mutation_p.G69*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.G69*|NQO2_ENST00000380441.1_Nonsense_Mutation_p.G69*|NQO2_ENST00000380430.1_Nonsense_Mutation_p.G69*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	69					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TTTCAATTATGGAGTGGAAAC	0.502																																					p.G69X		.											.	NQO2-91	0			c.G205T						.						120	115	116					6																	3012810		2203	4300	6503	SO:0001587	stop_gained	4835	exon4			AATTATGGAGTGG	U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.205G>T	6.37:g.3012810G>T	ENSP00000337773:p.Gly69*	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	220	5	NM_000904	0	0	162	163	1	B2R492|Q5TD04	Nonsense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320765	0.41096	.	.	ENSG00000124588	ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	.	.	.	5.65	4.75	0.60458	.	0.391048	0.29253	N	0.012687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8351	14.3805	0.66908	0.0:0.0:0.853:0.147	.	.	.	.	X	69;116;69;69;69;69;69;69	.	.	G	+	1	0	NQO2	2957809	0.863000	0.29885	0.315000	0.25238	0.007000	0.05969	3.542000	0.53625	2.659000	0.90383	0.655000	0.94253	GGA	.		0.502	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			T	3012810	G	T	3012810	4	4	9	1	0	0	0	0	0	1	0	0	10651	1349	47	3	215	3	NQO2	6	3012810	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		3012810	168102257	218	1805											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	12121200	12121200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagcgtagagcaaatgtGcaatcttcttctgaaagatc	8	8	4	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:12121200G>T	ENST00000379388.2	+	4	1504	c.1172G>T	c.(1171-1173)tGc>tTc	p.C391F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	391					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCAAATGTGCAATCTTCTT	0.383																																					p.C391F		.											.	HIVEP1-139	0			c.G1172T						.						107	102	103					6																	12121200		1973	4174	6147	SO:0001583	missense	3096	exon4			AAATGTGCAATCT	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1172G>T	6.37:g.12121200G>T	ENSP00000368698:p.Cys391Phe	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	82	19	NM_002114	0	0	0	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645424	0.47258	.	.	ENSG00000095951	ENST00000379388	T	0.09817	2.94	5.2	3.07	0.35406	.	0.213702	0.23997	N	0.042511	T	0.10252	0.0251	M	0.69823	2.125	0.80722	D	1	P	0.49635	0.926	P	0.47744	0.556	T	0.05178	-1.0901	9	.	.	.	-5.749	12.5509	0.56225	0.16:0.0:0.84:0.0	.	391	P15822	ZEP1_HUMAN	F	391	ENSP00000368698:C391F	.	C	+	2	0	HIVEP1	12229186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.863000	0.48396	1.185000	0.42971	0.650000	0.86243	TGC	.		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		T	12121200	G	T	12121200	3	4	9	1	0	0	0	0	1	0	0	0	7213	1319	46	3	1182	3	HIVEP1	6	12121200	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9108390	12121200	158993867	219	1806											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	12163624	12163624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccctcaagaacagaagCagcaaataactctacagccg	7	13	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:12163624C>A	ENST00000379388.2	+	9	7419	c.7087C>A	c.(7087-7089)Cag>Aag	p.Q2363K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.Q228K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2363					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGAACAGAAGCAGCAAATAAC	0.542																																					p.Q2363K		.											.	HIVEP1-139	0			c.C7087A						.						110	119	116					6																	12163624		2086	4215	6301	SO:0001583	missense	3096	exon9			CAGAAGCAGCAAA	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7087C>A	6.37:g.12163624C>A	ENSP00000368698:p.Gln2363Lys	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	93	20	NM_002114	0	0	7	10	3	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421338	0.42918	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.30448	3.05;1.53	5.76	5.76	0.90799	.	0.608641	0.12470	N	0.466041	T	0.14141	0.0342	L	0.47716	1.5	0.38030	D	0.935143	B	0.31026	0.304	B	0.26693	0.072	T	0.03017	-1.1082	10	0.18710	T	0.47	-2.1358	13.2115	0.59828	0.0:0.9277:0.0:0.0723	.	2363	P15822	ZEP1_HUMAN	K	2363;228;345	ENSP00000368698:Q2363K;ENSP00000445617:Q228K	ENSP00000368698:Q2363K	Q	+	1	0	HIVEP1	12271610	0.868000	0.29978	0.906000	0.35671	0.343000	0.28985	2.133000	0.42093	2.706000	0.92434	0.655000	0.94253	CAG	.		0.542	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12163624	C	A	12163624	3	1	9	1	0	0	0	0	1	0	0	0	7213	711	25	3	7117	3	HIVEP1	6	12163624	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	42424	12163624	158951443	220	1807											
NRSN1	140767	ucsc.edu	37	chr6	24145937	24145937	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctggacatgtacaagctGgcaggagctgttctcttctg	12	10	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:24145937G>T	ENST00000378491.4	+	4	652	c.351G>T	c.(349-351)ctG>ctT	p.L117L		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTACAAGCTGGCAGGAGCTG	0.502																																					p.L117L		.											.	NRSN1-90	0			c.G351T						.						96	85	89					6																	24145937		2203	4300	6503	SO:0001819	synonymous_variant	140767	exon4			CAAGCTGGCAGGA	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.351G>T	6.37:g.24145937G>T		Somatic	128	3		WXS	Illumina GAIIx	Phase_I	129	14	NM_080723	0	0	0	0	0		Silent	SNP	ENST00000378491.4	37	CCDS4549.1																																																																																			.		0.502	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		T	24145937	G	T	24145937	2	4	9	1	0	0	0	0	0	0	0	1	10701	1335	47	3		3	NRSN1	6	24145937	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	11982313	24145937	146969130	221	1808											
OR2W1	26692	broad.mit.edu	37	chr6	29012545	29012545	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagacatagatgtgggttCatgactacaaaataatgcaa	8	5	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29012545C>A	ENST00000377175.1	-	1	472	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, 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)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GATGTGGGTTCATGACTACAA	0.393																																					p.M136I		.											.	OR2W1-93	0			c.G408T						.						96	88	91					6																	29012545		1511	2709	4220	SO:0001583	missense	26692	exon1			TGGGTTCATGACT	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.408G>T	6.37:g.29012545C>A	ENSP00000366380:p.Met136Ile	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	68	4	NM_030903	0	0	0	0	0	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	9.484	1.098793	0.20552	.	.	ENSG00000204704	ENST00000377175	T	0.00551	6.65	4.79	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.094062	0.47093	N	0.000245	T	0.00552	0.0018	M	0.91196	3.185	0.37136	D	0.901485	B	0.31503	0.326	B	0.30251	0.113	T	0.37911	-0.9685	10	0.56958	D	0.05	.	13.1512	0.59490	0.0:0.8382:0.1618:0.0	.	136	Q9Y3N9	OR2W1_HUMAN	I	136	ENSP00000366380:M136I	ENSP00000366380:M136I	M	-	3	0	OR2W1	29120524	0.931000	0.31567	0.970000	0.41538	0.124000	0.20399	1.843000	0.39259	2.175000	0.68902	0.591000	0.81541	ATG	.		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012545	C	A	29012545	3	1	9	1	0	0	0	0	1	0	0	0	11071	826	29	3	558	3	OR2W1	6	29012545	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4866608	29012545	142102522	222	1809											
OR2H1	26716	ucsc.edu;bcgsc.ca	37	chr6	29429993	29429993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatctgtggcctgggttatGagtctggttcaatcgatagt	13	7	3	1	rs139057187	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29429993G>T	ENST00000377136.1	+	4	912	c.447G>T	c.(445-447)atG>atT	p.M149I	OR2H1_ENST00000442615.1_Missense_Mutation_p.M149I|OR2H1_ENST00000377133.1_Missense_Mutation_p.M149I|OR2H1_ENST00000396792.2_Missense_Mutation_p.M149I|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.M149I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCTGGGTTATGAGTCTGGTTC	0.562																																					p.M149I		.											.	OR2H1-90	0			c.G447T						.						188	191	190					6																	29429993		1511	2709	4220	SO:0001583	missense	26716	exon3			GGTTATGAGTCTG	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.447G>T	6.37:g.29429993G>T	ENSP00000366340:p.Met149Ile	Somatic	130	2		WXS	Illumina GAIIx	Phase_I	172	43	NM_030883	0	0	0	0	0	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.499292	0.00157	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00342	8.03;8.03;8.03;8.03;8.03	2.81	-5.63	0.02474	GPCR, rhodopsin-like superfamily (1);	0.545934	0.15392	N	0.264753	T	0.00012	0.0000	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28202	-1.0051	10	0.29301	T	0.29	.	4.1408	0.10193	0.167:0.0837:0.1349:0.6143	.	149	Q9GZK4	OR2H1_HUMAN	I	149	ENSP00000366340:M149I;ENSP00000366337:M149I;ENSP00000393254:M149I;ENSP00000366336:M149I;ENSP00000380010:M149I	ENSP00000366336:M149I	M	+	3	0	OR2H1	29537972	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.854000	0.00350	-3.341000	0.00183	-3.262000	0.00049	ATG	G|0.999;A|0.001		0.562	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			T	29429993	G	T	29429993	3	4	9	1	0	0	0	0	1	0	0	0	11040	1290	45	3	449	3	OR2H1	6	29429993	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	417448	29429993	141685074	223	1810											
GABBR1	2550	broad.mit.edu;bcgsc.ca	37	chr6	29591685	29591685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accacaatgaggttccacatCctagcagcctcagccaccag	7	16	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:29591685C>A	ENST00000377034.4	-	7	1109	c.774G>T	c.(772-774)agG>agT	p.R258S	GABBR1_ENST00000377016.4_Missense_Mutation_p.R196S|GABBR1_ENST00000376977.3_Missense_Mutation_p.R258S|GABBR1_ENST00000355973.3_Missense_Mutation_p.R141S|GABBR1_ENST00000377012.4_Missense_Mutation_p.R141S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	258					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGTTCCACATCCTAGCAGCCT	0.527																																					p.R258S		.											.	GABBR1-521	0			c.G774T						.						118	92	101					6																	29591685		1511	2709	4220	SO:0001583	missense	2550	exon7			CCACATCCTAGCA	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.774G>T	6.37:g.29591685C>A	ENSP00000366233:p.Arg258Ser	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	214	7	NM_001470	0	0	4	4	0	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	-	12.28	1.891055	0.33348	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	4.31	3.42	0.39159	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	L	0.39020	1.185	0.51767	D	0.999933	P;D;D;D	0.69078	0.917;0.997;0.997;0.997	P;D;D;D	0.80764	0.693;0.993;0.994;0.994	T	0.80030	-0.1553	10	0.62326	D	0.03	-12.4038	5.2076	0.15299	0.206:0.6898:0.0:0.1042	.	258;196;258;141	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	S	141;258;196;141;258	ENSP00000348248:R141S;ENSP00000366176:R258S;ENSP00000366215:R196S;ENSP00000366211:R141S;ENSP00000366233:R258S	ENSP00000348248:R141S	R	-	3	2	GABBR1	29699664	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	0.746000	0.26275	1.035000	0.39972	-0.357000	0.07601	AGG	.		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			A	29591685	C	A	29591685	3	1	9	1	0	0	0	0	1	0	0	0	6179	854	30	3	2179	3	GABBR1	6	29591685	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	161692	29591685	141523382	224	1811											
RNF39	80352	hgsc.bcm.edu	37	chr6	30039364	30039364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgaagcgcttggggcCgtcagggggcgcgggcgtcc	19	12	1	1	rs11753382	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:30039364C>A	ENST00000244360.6	-	4	884	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	RNF39_ENST00000376751.3_Missense_Mutation_p.G263C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	263	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGCTTGGGGCCGTCAGGGGGC	0.741													c|||	749	0.149561	0.2489	0.134	5008	,	,		10967	0.1528		0.0447	False		,,,				2504	0.1309				p.G263C	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.G787T						.		CYS/GLY,CYS/GLY	414,2026		21,372,827	3	2	2		787,787	0.5	0.1	6	dbSNP_120	2	229,4029		6,217,1906	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	159,159	27,589,2733	AA,AC,CC		5.3781,16.9672,9.5999	benign,benign	263/421,263/355	30039364	643,6055	1220	2129	3349	SO:0001583	missense	80352	exon4			TGGGGCCGTCAGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.787G>T	6.37:g.30039364C>A	ENSP00000244360:p.Gly263Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	13	NM_025236	0	0	6	6	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	299	0.13690476190476192	120	0.24390243902439024	56	0.15469613259668508	90	0.15734265734265734	33	0.04353562005277045	c	11.55	1.672102	0.29693	0.169672	0.053781	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10382	2.88;2.88	4.7	0.543	0.17179	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.296117	0.23738	N	0.045041	T	0.03348	0.0097	N	0.19112	0.55	0.48696	P	3.009999999999957E-4	B;P	0.48407	0.06;0.91	B;P	0.47626	0.092;0.552	T	0.41305	-0.9516	9	0.56958	D	0.05	-19.3451	7.7639	0.28968	0.0:0.4441:0.0:0.5559	rs11753382	263;263	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	263	ENSP00000365942:G263C;ENSP00000244360:G263C	ENSP00000244360:G263C	G	-	1	0	RNF39	30147343	0.003000	0.15002	0.059000	0.19551	0.050000	0.14768	0.158000	0.16422	-0.104000	0.12154	0.466000	0.42574	GGC	C|0.862;A|0.138		0.741	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		A	30039364	C	A	30039364	3	1	9	1	0	0	0	0	1	0	0	0	13536	652	23	2	479	2	RNF39	6	30039364	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	447679	30039364	141075703	225	1812											
ABCF1	23	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	30552279	30552279	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggcctgggctttgaccctGaaatgcagaatcgacccaca	10	13	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:30552279G>T	ENST00000326195.8	+	14	1439	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Nonsense_Mutation_p.E405*|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	443	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTTTGACCCTGAAATGCAGAA	0.632																																					p.E443X		.											.	ABCF1-92	0			c.G1327T						.						80	74	77					6																	30552279		1510	2707	4217	SO:0001587	stop_gained	23	exon14			GACCCTGAAATGC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1327G>T	6.37:g.30552279G>T	ENSP00000313603:p.Glu443*	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	9	NM_001025091	0	0	36	36	0	A2BF75|O14897|Q69YP6	Nonsense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	39	7.452311	0.98292	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	.	.	.	5.12	4.25	0.50352	.	0.152557	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.8307	12.495	0.55923	0.0818:0.0:0.9182:0.0	.	.	.	.	X	443;405;422	.	ENSP00000313603:E443X	E	+	1	0	ABCF1	30660258	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.216000	0.95154	1.405000	0.46838	0.462000	0.41574	GAA	.		0.632	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			T	30552279	G	T	30552279	4	4	9	1	0	0	0	0	0	1	0	0	65	1291	45	3	1381	3	ABCF1	6	30552279	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	512915	30552279	140562788	226	1813											
EHMT2	10919	broad.mit.edu;ucsc.edu	37	chr6	31856281	31856281	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcggcattgcagcctgaCagctgtgcgcagtgaggatg	16	9	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:31856281C>A	ENST00000375537.4	-	12	1374	c.1368G>T	c.(1366-1368)ctG>ctT	p.L456L	EHMT2_ENST00000375528.4_Silent_p.L479L|EHMT2_ENST00000395728.3_Silent_p.L513L|EHMT2_ENST00000375530.4_Silent_p.L422L|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	456					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						TGCAGCCTGACAGCTGTGCGC	0.677																																					p.L456L		.											.	EHMT2-91	0			c.G1368T						.						32	30	30					6																	31856281		1511	2709	4220	SO:0001819	synonymous_variant	10919	exon12			GCCTGACAGCTGT	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.1368G>T	6.37:g.31856281C>A		Somatic	68	1		WXS	Illumina GAIIx	Phase_I	119	14	NM_006709	0	0	0	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	CCDS4725.1																																																																																			.		0.677	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31856281	C	A	31856281	2	1	9	1	0	0	0	0	0	0	0	1	4998	465	17	3		3	EHMT2	6	31856281	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1304002	31856281	139258786	227	1814											
CFB	629	broad.mit.edu	37	chr6	31917321	31917321	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaacctggaagatgttttCtaccaaatgatcggtaggga	11	6	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:31917321C>A	ENST00000425368.2	+	10	1908	c.1395C>A	c.(1393-1395)ttC>ttA	p.F465L	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.F816L|CFB_ENST00000456570.1_Missense_Mutation_p.F967L|CFB_ENST00000556679.1_Missense_Mutation_p.F967L	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGATGTTTTCTACCAAATGA	0.413																																					p.F465L		.											.	CFB-91	0			c.C1395A						.						55	56	56					6																	31917321		1511	2709	4220	SO:0001583	missense	629	exon10			TGTTTTCTACCAA	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1395C>A	6.37:g.31917321C>A	ENSP00000416561:p.Phe465Leu	Somatic	50	2		WXS	Illumina GAIIx	Phase_I	75	5	NM_001710	0	0	0	0	0	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.21|19.21	3.783072|3.783072	0.70222|0.70222	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;-1.13|.	5.95|5.95	4.96|4.96	0.65561|0.65561	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.53932|0.53932	0.1827|0.1827	M|M	0.72353|0.72353	2.195|2.195	0.48395|0.48395	D|D	0.999647|0.999647	D;D;D|.	0.65815|.	0.989;0.995;0.992|.	D;D;P|.	0.63113|.	0.911;0.909;0.752|.	T|T	0.58148|0.58148	-0.7687|-0.7687	10|5	0.52906|.	T|.	0.07|.	-31.6205|-31.6205	8.9472|8.9472	0.35767|0.35767	0.0:0.8736:0.0:0.1264|0.0:0.8736:0.0:0.1264	.|.	967;465;465|.	B4E1Z4;P00751;P00751-2|.	.;CFAB_HUMAN;.|.	L|Y	967;465;967;816|78	ENSP00000451848:F967L;ENSP00000416561:F465L;ENSP00000410815:F967L;ENSP00000418996:F816L|.	ENSP00000416561:F465L|.	F|S	+|+	3|2	2|0	CFB;XXbac-BPG116M5.17|CFB	32025300|32025300	0.577000|0.577000	0.26708|0.26708	0.825000|0.825000	0.32803|0.32803	0.835000|0.835000	0.47333|0.47333	0.765000|0.765000	0.26546|0.26546	1.270000|1.270000	0.44297|0.44297	0.655000|0.655000	0.94253|0.94253	TTC|TCT	.		0.413	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		A	31917321	C	A	31917321	3	1	9	1	0	0	0	0	1	0	0	0	3285	912	32	3	1433	3	CFB	6	31917321	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	61040	31917321	139197746	228	1815											
PSMB9	5698	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	32825820	32825820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttgttttggctgctgCaaatgtggtgagaaatatca	10	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:32825820C>A	ENST00000374859.2	+	4	368	c.299C>A	c.(298-300)gCa>gAa	p.A100E	PSMB9_ENST00000453265.2_Missense_Mutation_p.A56E|PSMB9_ENST00000395330.1_Missense_Mutation_p.A77E	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	100					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)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	TTGGCTGCTGCAAATGTGGTG	0.423																																					p.A100E		.											.	PSMB9-90	0			c.C299A						.						110	112	111					6																	32825820		1510	2709	4219	SO:0001583	missense	5698	exon4			CTGCTGCAAATGT		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.299C>A	6.37:g.32825820C>A	ENSP00000363993:p.Ala100Glu	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	193	50	NM_002800	0	0	36	47	11	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457087	0.84317	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.0	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	H	0.94503	3.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.74538	-0.3632	10	0.87932	D	0	-14.8072	11.6979	0.51554	0.0:0.911:0.0:0.089	.	56;100	B4DZW2;P28065	.;PSB9_HUMAN	E	77;77;100;56;56	ENSP00000378739:A77E;ENSP00000394363:A77E;ENSP00000363993:A100E;ENSP00000394773:A56E	ENSP00000363993:A100E	A	+	2	0	PSMB9	32933798	1.000000	0.71417	0.952000	0.39060	0.971000	0.66376	4.984000	0.63838	2.619000	0.88677	0.638000	0.83543	GCA	.		0.423	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800		A	32825820	C	A	32825820	3	1	9	1	0	0	0	0	1	0	0	0	12726	710	25	3	313	3	PSMB9	6	32825820	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	908499	32825820	138289247	229	1816											
ITPR3	3710	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	33630346	33630346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgcggagcaggagaagttCctgacgtgtgacgagtacaa	14	8	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:33630346C>A	ENST00000374316.5	+	9	1813	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F251L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	251	MIR 3. {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)	AGGAGAAGTTCCTGACGTGTG	0.637																																					p.F251L		.											.	ITPR3-1085	0			c.C753A						.						98	72	81					6																	33630346		2203	4299	6502	SO:0001583	missense	3710	exon8			GAAGTTCCTGACG	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.753C>A	6.37:g.33630346C>A	ENSP00000363435:p.Phe251Leu	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	107	50	NM_002224	0	0	1	1	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121282	0.56613	.	.	ENSG00000096433	ENST00000374316	D	0.87571	-2.27	5.61	2.4	0.29515	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.89414	3.03	0.46521	D	0.999089	D	0.89917	1.0	D	0.87578	0.998	D	0.89887	0.4034	10	0.87932	D	0	-32.779	6.1372	0.20239	0.1363:0.5946:0.0:0.2691	.	251	Q14573	ITPR3_HUMAN	L	251	ENSP00000363435:F251L	ENSP00000363435:F251L	F	+	3	2	ITPR3	33738324	0.999000	0.42202	1.000000	0.80357	0.264000	0.26372	0.621000	0.24418	0.723000	0.32274	-0.823000	0.03104	TTC	.		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33630346	C	A	33630346	3	1	9	1	0	0	0	0	1	0	0	0	7949	854	30	3	783	3	ITPR3	6	33630346	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	804526	33630346	137484721	230	1817											
BTBD9	114781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	38561778	38561778	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accttcacttgagaggacttCctgagcattcctatccataa	6	12	1	2	rs564182469		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:38561778C>A	ENST00000481247.1	-	3	662	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	BTBD9_ENST00000408958.1_Nonsense_Mutation_p.E103*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.E112*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.E171*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.E103*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	171	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGAGGACTTCCTGAGCATTC	0.378																																					p.E171X		.											.	BTBD9-226	0			c.G511T						.						170	167	168					6																	38561778		1913	4134	6047	SO:0001587	stop_gained	114781	exon4			GGACTTCCTGAGC		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.511G>T	6.37:g.38561778C>A	ENSP00000418751:p.Glu171*	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	187	34	NM_052893	0	0	1	1	0	Q494V9|Q494W1|Q96M00	Nonsense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	38	7.082492	0.98051	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	.	.	.	X	103;171;112;171;103;103	.	ENSP00000323408:E103X	E	-	1	0	BTBD9	38669756	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.826000	0.97356	0.563000	0.77884	GAA	.		0.378	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		A	38561778	C	A	38561778	4	1	9	1	0	0	0	0	0	1	0	0	1552	864	30	3	1454	3	BTBD9	6	38561778	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4931432	38561778	132553289	231	1818											
DNAH8	1769	broad.mit.edu;bcgsc.ca	37	chr6	38800136	38800136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagttcaagtgcagccaaaGtttaaaagcaatctacttga	7	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:38800136G>T	ENST00000359357.3	+	29	3830	c.3576G>T	c.(3574-3576)aaG>aaT	p.K1192N	DNAH8_ENST00000449981.2_Missense_Mutation_p.K1409N|DNAH8_ENST00000441566.1_Missense_Mutation_p.K1192N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1192					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						TGCAGCCAAAGTTTAAAAGCA	0.323																																					p.K1409N		.											.	DNAH8-615	0			c.G4227T						.						121	112	115					6																	38800136		2203	4300	6503	SO:0001583	missense	1769	exon31			GCCAAAGTTTAAA	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.3576G>T	6.37:g.38800136G>T	ENSP00000352312:p.Lys1192Asn	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	222	8	NM_001206927	0	0	0	0	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383776	0.25031	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26660	1.74;1.73;1.72	5.41	-2.98	0.05513	.	0.371588	0.29853	N	0.011024	T	0.04679	0.0127	L	0.29908	0.895	0.35996	D	0.837034	B	0.10296	0.003	B	0.10450	0.005	T	0.33445	-0.9868	10	0.16896	T	0.51	.	6.9503	0.24542	0.5182:0.2176:0.2642:0.0	.	1192	Q96JB1	DYH8_HUMAN	N	1397;1397;1192;1192	ENSP00000333363:K1397N;ENSP00000352312:K1192N;ENSP00000402294:K1192N	ENSP00000333363:K1397N	K	+	3	2	DNAH8	38908114	0.970000	0.33590	0.878000	0.34440	0.961000	0.63080	0.029000	0.13666	-0.449000	0.07117	0.563000	0.77884	AAG	.		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38800136	G	T	38800136	3	4	9	1	0	0	0	0	1	0	0	0	4621	1020	36	3	3682	3	DNAH8	6	38800136	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	238358	38800136	132314931	232	1819											
KCNK17	89822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	39271826	39271826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctccatgtgggagaagaGcagcggtggcagcagcagga	17	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:39271826G>T	ENST00000373231.4	-	4	827	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	KCNK17_ENST00000453413.2_Missense_Mutation_p.L199I	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	199					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						TGGGAGAAGAGCAGCGGTGGC	0.632																																					p.L199I		.											.	KCNK17-227	0			c.C595A						.						74	75	75					6																	39271826		2203	4300	6503	SO:0001583	missense	89822	exon4			AGAAGAGCAGCGG	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.595C>A	6.37:g.39271826G>T	ENSP00000362328:p.Leu199Ile	Somatic	122	2		WXS	Illumina GAIIx	Phase_I	153	42	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036710	0.19669	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.28069	1.8;1.63	4.21	3.33	0.38152	Ion transport 2 (1);	0.136537	0.29280	N	0.012609	T	0.08980	0.0222	N	0.11560	0.145	0.28908	N	0.892884	B;P	0.46395	0.379;0.877	P;P	0.51016	0.45;0.656	T	0.10800	-1.0614	10	0.19147	T	0.46	.	6.9647	0.24617	0.0945:0.0:0.7302:0.1753	.	199;199	E9PB46;Q96T54	.;KCNKH_HUMAN	I	199	ENSP00000362328:L199I;ENSP00000401271:L199I	ENSP00000362328:L199I	L	-	1	0	KCNK17	39379804	0.563000	0.26594	0.996000	0.52242	0.288000	0.27193	0.693000	0.25497	0.942000	0.37525	0.561000	0.74099	CTC	.		0.632	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		T	39271826	G	T	39271826	3	4	9	1	0	0	0	0	1	0	0	0	8091	971	34	3	543	3	KCNK17	6	39271826	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	471690	39271826	131843241	233	1820											
PRPH2	5961	broad.mit.edu;ucsc.edu	37	chr6	42689604	42689604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaactcgatctgcagcatgtCgatggtcttcttcatgaaac	9	10	4	1	rs61755787		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:42689604C>A	ENST00000230381.5	-	1	708	c.469G>T	c.(469-471)Gac>Tac	p.D157Y		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	157			D -> N (in PDREP).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.D157N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCATGTCGATGGTCTTC	0.537																																					p.D157Y		.											.	PRPH2-94	1	Substitution - Missense(1)	large_intestine(1)	c.G469T	GRCh37	CM951117	PRPH2	M	rs61755787	.						127	113	117					6																	42689604		2203	4300	6503	SO:0001583	missense	5961	exon1			GCATGTCGATGGT		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.469G>T	6.37:g.42689604C>A	ENSP00000230381:p.Asp157Tyr	Somatic	148	2		WXS	Illumina GAIIx	Phase_I	204	21	NM_000322	0	0	0	0	0	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899006	0.91962	.	.	ENSG00000112619	ENST00000230381	D	0.81908	-1.55	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92999	0.6421	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	157	P23942	PRPH2_HUMAN	Y	157	ENSP00000230381:D157Y	ENSP00000230381:D157Y	D	-	1	0	PRPH2	42797582	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.708000	0.84633	2.894000	0.99253	0.655000	0.94253	GAC	.		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		A	42689604	C	A	42689604	3	1	9	1	0	0	0	0	1	0	0	0	12619	884	31	2	583	2	PRPH2	6	42689604	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3417778	42689604	128425463	234	1821											
PPP2R5D	5528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	42957364	42957364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggagccccccaaggttGccaaatgcacagccaagcct	9	15	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:42957364G>T	ENST00000485511.1	+	2	222	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.A15S|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.A15S	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	15					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCCAAGGTTGCCAAATGCAC	0.507																																					p.A15S	Melanoma(63;587 1613 29742 31770)	.											.	PPP2R5D-1082	0			c.G43T						.						60	56	57					6																	42957364		2203	4300	6503	SO:0001583	missense	5528	exon2			AAGGTTGCCAAAT	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.43G>T	6.37:g.42957364G>T	ENSP00000417963:p.Ala15Ser	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	81	12	NM_180976	0	0	8	10	2	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364106	0.61513	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	T;T;T	0.53206	0.88;0.63;0.8	5.93	5.93	0.95920	.	5.009890	0.00541	N	0.000232	T	0.45196	0.1330	N	0.14661	0.345	0.80722	D	1	B;D	0.55605	0.083;0.972	B;P	0.59948	0.018;0.866	T	0.29088	-1.0023	10	0.49607	T	0.09	-17.5886	15.854	0.78960	0.0:0.0:1.0:0.0	.	15;15	Q14738;Q14738-2	2A5D_HUMAN;.	S	15	ENSP00000417963:A15S;ENSP00000377669:A15S;ENSP00000420550:A15S	ENSP00000230402:A15S	A	+	1	0	PPP2R5D	43065342	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.760000	0.62235	2.826000	0.97356	0.655000	0.94253	GCC	.		0.507	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		T	42957364	G	T	42957364	3	4	9	1	0	0	0	0	1	0	0	0	12437	1319	46	3	49	3	PPP2R5D	6	42957364	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	267760	42957364	128157703	235	1822											
CYP39A1	51302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46607338	46607338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagattgacagtcccCattttccctttcaacataat	6	10	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:46607338C>A	ENST00000275016.2	-	3	584	c.381G>T	c.(379-381)atG>atT	p.M127I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	127					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGACAGTCCCCATTTTCCCTT	0.363																																					p.M127I		.											.	CYP39A1-91	0			c.G381T						.						113	104	107					6																	46607338		2203	4300	6503	SO:0001583	missense	51302	exon3			AGTCCCCATTTTC	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.381G>T	6.37:g.46607338C>A	ENSP00000275016:p.Met127Ile	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	121	35	NM_016593	0	0	0	0	0	Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034227	0.35893	.	.	ENSG00000146233	ENST00000275016	D	0.84298	-1.83	5.55	-0.459	0.12179	.	0.546552	0.21080	N	0.080508	T	0.56717	0.2004	L	0.34521	1.04	0.30118	N	0.805978	B;B	0.14438	0.01;0.01	B;B	0.16289	0.015;0.015	T	0.43212	-0.9405	10	0.59425	D	0.04	-0.331	4.96	0.14061	0.2923:0.5202:0.0:0.1876	.	107;127	B7Z786;Q9NYL5	.;CP39A_HUMAN	I	127	ENSP00000275016:M127I	ENSP00000275016:M127I	M	-	3	0	CYP39A1	46715297	0.038000	0.19896	0.887000	0.34795	0.932000	0.56968	0.160000	0.16462	-0.347000	0.08299	-0.225000	0.12378	ATG	.		0.363	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			A	46607338	C	A	46607338	3	1	9	1	0	0	0	0	1	0	0	0	4186	594	21	3	1068	3	CYP39A1	6	46607338	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3649974	46607338	124507729	236	1823											
OPN5	221391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	47754293	47754293	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatatgtcctttacatgtCttctagacgaaagaagaagc	9	7	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:47754293C>A	ENST00000371211.2	+	2	201	c.173C>A	c.(172-174)tCt>tAt	p.S58Y	OPN5_ENST00000393699.2_Missense_Mutation_p.S58Y|OPN5_ENST00000489301.2_Missense_Mutation_p.S58Y	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	58					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTTACATGTCTTCTAGACGA	0.373																																					p.S58Y	Melanoma(28;740 973 10870 42660 45347)	.											.	OPN5-69	0			c.C173A						.						138	128	132					6																	47754293		2203	4300	6503	SO:0001583	missense	221391	exon2			ACATGTCTTCTAG	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.173C>A	6.37:g.47754293C>A	ENSP00000360255:p.Ser58Tyr	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	119	15	NM_181744	0	0	0	0	0	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068983	0.55539	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.36699	1.24;1.24;1.24	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.094446	0.85682	D	0.000000	T	0.16854	0.0405	N	0.15975	0.35	0.53688	D	0.999972	B	0.27997	0.197	B	0.26310	0.068	T	0.06023	-1.0850	10	0.59425	D	0.04	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	58	Q6U736	OPN5_HUMAN	Y	58	ENSP00000426991:S58Y;ENSP00000360255:S58Y;ENSP00000377302:S58Y	ENSP00000360255:S58Y	S	+	2	0	OPN5	47862252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.836000	0.97738	0.655000	0.94253	TCT	.		0.373	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		A	47754293	C	A	47754293	3	1	9	1	0	0	0	0	1	0	0	0	10922	913	32	3	179	3	OPN5	6	47754293	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1146955	47754293	123360774	237	1824											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	51612798	51612798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaagagctggtggccaCaatgactgaattcctaagca	10	8	0	4	rs141507554		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:51612798C>A	ENST00000371117.3	-	58	9891	c.9616G>T	c.(9616-9618)Gtg>Ttg	p.V3206L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3206L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3206					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)					CTGGTGGCCACAATGACTGAA	0.443																																					p.V3206L		.											.	PKHD1-603	0			c.G9616T						.	C	LEU/VAL,LEU/VAL	0,4406		0,0,2203	112	116	115		9616,9616	4	1	6	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	32,32	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign	3206/4075,3206/3397	51612798	1,13005	2203	4300	6503	SO:0001583	missense	5314	exon58			TGGCCACAATGAC	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.9616G>T	6.37:g.51612798C>A	ENSP00000360158:p.Val3206Leu	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	178	22	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631993	0.46944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89343	-2.34;-2.5	5.75	3.99	0.46301	.	0.300783	0.28683	N	0.014488	T	0.82259	0.4998	M	0.77103	2.36	0.29108	N	0.881033	B;P;B	0.37352	0.214;0.591;0.214	B;B;B	0.36766	0.087;0.232;0.087	T	0.77040	-0.2735	10	0.62326	D	0.03	.	11.5084	0.50481	0.0:0.856:0.0:0.144	.	3206;3206;3206	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3206	ENSP00000360158:V3206L;ENSP00000341097:V3206L	ENSP00000341097:V3206L	V	-	1	0	PKHD1	51720757	0.986000	0.35501	0.993000	0.49108	0.833000	0.47200	1.896000	0.39789	0.795000	0.33922	0.655000	0.94253	GTG	C|1.000;A|0.000		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51612798	C	A	51612798	3	1	9	1	0	0	0	0	1	0	0	0	12010	478	17	3	2687	3	PKHD1	6	51612798	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3858505	51612798	119502269	238	1825											
ELOVL5	60481	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	53139932	53139932	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaccaccagatgttcAgcatcgaggcatggtggtag	11	10	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:53139932A>T	ENST00000542638.1	-	5	899	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L151Q|ELOVL5_ENST00000541407.1_Missense_Mutation_p.L178Q|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L141Q			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	151					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CCAGATGTTCAGCATCGAGGC	0.507																																					p.L178Q		.											.	ELOVL5-90	0			c.T533A						.						132	105	114					6																	53139932		2203	4300	6503	SO:0001583	missense	60481	exon6			ATGTTCAGCATCG	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.452T>A	6.37:g.53139932A>T	ENSP00000440728:p.Leu151Gln	Somatic	187	2		WXS	Illumina GAIIx	Phase_I	234	32	NM_001242828	0	0	82	92	10	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771804	0.90108	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.17	6.17	0.99709	.	0.120157	0.64402	D	0.000019	T	0.54951	0.1890	H	0.94503	3.545	0.80722	D	1	D;P;P	0.55385	0.971;0.537;0.845	P;P;D	0.63793	0.847;0.797;0.918	T	0.67413	-0.5677	10	0.56958	D	0.05	-5.0027	16.8222	0.85835	1.0:0.0:0.0:0.0	.	178;151;151	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	Q	141;151;151;178	ENSP00000359956:L141Q;ENSP00000306640:L151Q;ENSP00000440728:L151Q;ENSP00000438095:L178Q	ENSP00000306640:L151Q	L	-	2	0	ELOVL5	53247891	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.316000	0.72857	2.371000	0.80710	0.533000	0.62120	CTG	.		0.507	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		T	53139932	A	T	53139932	3	4	9	1	0	0	0	0	1	0	0	0	5093	188	7	5	463	5	ELOVL5	6	53139932	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	1527134	53139932	117975135	239	1826											
FAM83B	222584	broad.mit.edu;bcgsc.ca	37	chr6	54805222	54805222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaacgaatgccaacccttGaacataccacaaagtcattc	4	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:54805222G>T	ENST00000306858.7	+	5	1569	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	485										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCCAACCCTTGAACATACCAC	0.393																																					p.E485X		.											.	FAM83B-96	0			c.G1453T						.						93	93	93					6																	54805222		2203	4300	6503	SO:0001587	stop_gained	222584	exon5			ACCCTTGAACATA	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1453G>T	6.37:g.54805222G>T	ENSP00000304078:p.Glu485*	Somatic	60	1		WXS	Illumina GAIIx	Phase_I	57	13	NM_001010872	0	0	0	0	0	Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504684	0.96371	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-27.0099	19.8898	0.96926	0.0:0.0:1.0:0.0	.	.	.	.	X	485	.	ENSP00000304078:E485X	E	+	1	0	FAM83B	54913181	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.438000	0.80431	2.775000	0.95449	0.655000	0.94253	GAA	.		0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54805222	G	T	54805222	4	4	9	1	0	0	0	0	0	1	0	0	5656	1291	45	3	1467	3	FAM83B	6	54805222	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1665290	54805222	116309845	240	1827											
COL21A1	81578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	56033011	56033011	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatgtaagggcttgttttCaatttgttggtcatcaatat	10	4	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:56033011C>A	ENST00000244728.5	-	6	1508	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.E371*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.E371*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	371	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)			GGCTTGTTTTCAATTTGTTGG	0.358																																					p.E371X		.											.	COL21A1-24	0			c.G1111T						.						71	63	65					6																	56033011		1830	4083	5913	SO:0001587	stop_gained	81578	exon6			TGTTTTCAATTTG	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.1111G>T	6.37:g.56033011C>A	ENSP00000244728:p.Glu371*	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	78	12	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.469889	0.98302	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	5.35	3.47	0.39725	.	0.198303	0.32970	N	0.005429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.5779	0.50875	0.0:0.8022:0.1265:0.0713	.	.	.	.	X	371	.	ENSP00000244728:E371X	E	-	1	0	COL21A1	56140970	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.838000	0.55828	2.506000	0.84524	0.655000	0.94253	GAA	.		0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	56033011	C	A	56033011	4	1	9	1	0	0	0	0	0	1	0	0	3687	835	29	3	1862	3	COL21A1	6	56033011	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1227789	56033011	115082056	241	1828											
LGSN	51557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	63991038	63991038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctattaaaacatgtggCtcttatgttattcatttcat	6	7	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:63991038C>A	ENST00000370657.4	-	4	451	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	LGSN_ENST00000370658.5_Missense_Mutation_p.A140S			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	140					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAACATGTGGCTCTTATGTTA	0.403																																					p.A140S		.											.	LGSN-227	0			c.G418T						.						128	122	124					6																	63991038		2203	4300	6503	SO:0001583	missense	51557	exon4			ATGTGGCTCTTAT	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.418G>T	6.37:g.63991038C>A	ENSP00000359691:p.Ala140Ser	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	126	42	NM_016571	0	0	0	0	0	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298353	0.23650	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.50548	0.74;0.74	5.57	4.7	0.59300	Glutamine synthetase, beta-Grasp (3);	0.193902	0.56097	D	0.000040	T	0.45538	0.1347	L	0.33753	1.03	0.44825	D	0.997834	D;B	0.65815	0.995;0.283	P;B	0.61658	0.892;0.354	T	0.47824	-0.9087	10	0.72032	D	0.01	-20.1629	13.8362	0.63410	0.0:0.9253:0.0:0.0747	.	140;140	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	S	140	ENSP00000359692:A140S;ENSP00000359691:A140S	ENSP00000359691:A140S	A	-	1	0	LGSN	64048997	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.599000	0.54045	2.626000	0.88956	0.557000	0.71058	GCC	.		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		A	63991038	C	A	63991038	3	1	9	1	0	0	0	0	1	0	0	0	8788	797	28	3	1115	3	LGSN	6	63991038	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7958027	63991038	107124029	242	1829											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	65301109	65301109	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcacatgtttggcttaattCtcttaaagaatcagcagcct	7	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:65301109C>A	ENST00000370621.3	-	26	5177	c.4651G>T	c.(4651-4653)Gaa>Taa	p.E1551*	EYS_ENST00000370616.2_Nonsense_Mutation_p.E1551*|EYS_ENST00000503581.1_Nonsense_Mutation_p.E1551*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1551					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						TGGCTTAATTCTCTTAAAGAA	0.383																																					p.E1551X		.											.	EYS-660	0			c.G4651T						.						53	44	47					6																	65301109		692	1590	2282	SO:0001587	stop_gained	346007	exon26			TTAATTCTCTTAA		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.4651G>T	6.37:g.65301109C>A	ENSP00000359655:p.Glu1551*	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	117	19	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	44	10.772904	0.99465	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.84	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.2146	0.43160	0.0:0.8465:0.0:0.1535	.	.	.	.	X	1551	.	ENSP00000359650:E1551X	E	-	1	0	EYS	65357830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.768000	0.38511	1.486000	0.48398	0.591000	0.81541	GAA	.		0.383	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65301109	C	A	65301109	4	1	9	1	0	0	0	0	0	1	0	0	5348	922	32	3	4700	3	EYS	6	65301109	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1310071	65301109	105813958	243	1830											
COL19A1	1310	bcgsc.ca	37	chr6	70916977	70916977	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcgcacaggtgggaattGaacacacctgaagaagactt	11	9	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:70916977G>T	ENST00000322773.4	+	51	3530	c.3428G>T	c.(3427-3429)tGa>tTa	p.*1143L	COL19A1_ENST00000393344.1_Nonstop_Mutation_p.*765L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	0					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGGGAATTGAACACACCTG	0.517																																					p.X1143L		.											.	COL19A1-156	0			c.G3428T						.						110	121	117					6																	70916977		2203	4300	6503	SO:0001578	stop_lost	1310	exon51			GGAATTGAACACA		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3428G>T	6.37:g.70916977G>T	ENSP00000316030:p.*1143Leuext*49	Somatic	39	1		WXS	Illumina GAIIx	Phase_I	50	13	NM_001858	0	0	0	0	0	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292455	0.23564	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.79	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4418	0.27187	0.3716:0.0:0.6284:0.0	.	.	.	.	L	1143;765	.	.	X	+	2	2	COL19A1	70973698	1.000000	0.71417	0.058000	0.19502	0.596000	0.36781	1.329000	0.33770	0.702000	0.31825	0.563000	0.77884	TGA	.		0.517	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70916977	G	T	70916977	4	4	9	1	0	0	0	0	0	0	0	0	3683	1285	45	3	3626	3	COL19A1	6	70916977	Nonstop_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5615868	70916977	100198090	244	1831											
C6orf150	115004	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	74161347	74161347	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtggtccacaacccctttCaccatccccgccgccgtgga	9	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:74161347C>A	ENST00000370315.3	-	1	652	c.558G>T	c.(556-558)gtG>gtT	p.V186V	MB21D1_ENST00000370318.1_Silent_p.V186V	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	186	DNA-binding. {ECO:0000305|PubMed:23707061}.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						CAACCCCTTTCACCATCCCCG	0.627																																					p.V186V		.											.	MB21D1-90	0			c.G558T						.						27	28	27					6																	74161347		2203	4300	6503	SO:0001819	synonymous_variant	115004	exon1			CCCTTTCACCATC	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.558G>T	6.37:g.74161347C>A		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	299	19	NM_138441	0	0	0	0	0	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																			.		0.627	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		A	74161347	C	A	74161347	2	1	9	1	0	0	0	0	0	0	0	1	2344	813	29	3		3	C6orf150	6	74161347	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3244370	74161347	96953720	245	1832											
PRSS35	167681	broad.mit.edu	37	chr6	84234143	84234143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctatcggttttgcagtgtgtCcgacgaatccaatgatctcc	9	11	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:84234143C>A	ENST00000369700.3	+	2	1160	c.983C>A	c.(982-984)tCc>tAc	p.S328Y	PRSS35_ENST00000536636.1_Missense_Mutation_p.S328Y	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	328	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGCAGTGTGTCCGACGAATCC	0.478																																					p.S328Y		.											.	PRSS35-91	0			c.C983A						.						125	124	124					6																	84234143		2203	4300	6503	SO:0001583	missense	167681	exon2			GTGTGTCCGACGA	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.983C>A	6.37:g.84234143C>A	ENSP00000358714:p.Ser328Tyr	Somatic	96	2		WXS	Illumina GAIIx	Phase_I	99	20	NM_153362	0	0	0	0	0	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989646	0.93106	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.43294	0.95;0.95	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.171732	0.52532	D	0.000062	T	0.53802	0.1819	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.57244	0.816	T	0.54227	-0.8325	10	0.62326	D	0.03	-12.8025	20.2946	0.98546	0.0:1.0:0.0:0.0	.	328	Q8N3Z0	PRS35_HUMAN	Y	328	ENSP00000440870:S328Y;ENSP00000358714:S328Y	ENSP00000358714:S328Y	S	+	2	0	PRSS35	84290862	1.000000	0.71417	0.898000	0.35279	0.967000	0.64934	7.487000	0.81328	2.804000	0.96469	0.462000	0.41574	TCC	.		0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84234143	C	A	84234143	3	1	9	1	0	0	0	0	1	0	0	0	12666	855	30	3	985	3	PRSS35	6	84234143	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10072796	84234143	86880924	246	1833											
SNAP91	9892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	84292059	84292059	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagatggggaaggcgccatGaaagaacccccaaatcctga	13	10	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:84292059G>T	ENST00000439399.2	-	23	2347	c.2031C>A	c.(2029-2031)ttC>ttA	p.F677L	SNAP91_ENST00000437520.1_Missense_Mutation_p.F370L|SNAP91_ENST00000428679.2_Missense_Mutation_p.F677L|SNAP91_ENST00000520213.1_Missense_Mutation_p.F370L|SNAP91_ENST00000521485.1_Missense_Mutation_p.F677L|SNAP91_ENST00000521743.1_Missense_Mutation_p.F677L|SNAP91_ENST00000369694.2_Missense_Mutation_p.F677L|SNAP91_ENST00000195649.6_Missense_Mutation_p.F677L|SNAP91_ENST00000520302.1_Missense_Mutation_p.F647L|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	677					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418																																					p.F677L		.											.	SNAP91-23	0			c.C2031A						.						56	57	56					6																	84292059		1917	4134	6051	SO:0001583	missense	9892	exon22			CGCCATGAAAGAA	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2031C>A	6.37:g.84292059G>T	ENSP00000400459:p.Phe677Leu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	47	12	NM_001242792	0	0	0	1	1	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770719	0.49680	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;2.49;1.31;1.31;2.49;1.31;1.31	5.43	3.65	0.41850	.	0.488832	0.23943	N	0.043040	T	0.29976	0.0750	L	0.60455	1.87	0.20638	N	0.999878	P;D;D;B;D	0.61080	0.956;0.982;0.989;0.404;0.987	P;D;D;B;P	0.68943	0.899;0.961;0.958;0.205;0.84	T	0.13469	-1.0508	10	0.09590	T	0.72	-8.6011	9.8539	0.41073	0.2389:0.0:0.7611:0.0	.	558;370;647;677;675	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	L	677;677;677;677;677;370;647;677;370;18;490	ENSP00000429776:F677L;ENSP00000358708:F677L;ENSP00000400459:F677L;ENSP00000195649:F677L;ENSP00000412492:F677L;ENSP00000413277:F370L;ENSP00000428511:F647L;ENSP00000428215:F677L;ENSP00000428026:F370L;ENSP00000430255:F18L;ENSP00000430071:F490L	ENSP00000195649:F677L	F	-	3	2	SNAP91	84348778	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.252000	0.32874	0.677000	0.31305	0.561000	0.74099	TTC	.		0.418	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84292059	G	T	84292059	3	4	9	1	0	0	0	0	1	0	0	0	14878	1281	45	3	720	3	SNAP91	6	84292059	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	57916	84292059	86823008	247	1834											
NT5E	4907	ucsc.edu;bcgsc.ca	37	chr6	86181104	86181104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtgaggggtgtggacGtcgtggtgggaggacactcc	19	6	0	2	rs550591725		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:86181104G>A	ENST00000257770.3	+	3	761	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	NT5E_ENST00000369646.3_Missense_Mutation_p.V238I|NT5E_ENST00000369651.3_Missense_Mutation_p.V238I	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	238					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GGGTGTGGACGTCGTGGTGGG	0.418																																					p.V238I	Melanoma(140;797 1765 2035 2752 18208)	.											.	NT5E-93	0			c.G712A						.						108	106	107					6																	86181104		2203	4300	6503	SO:0001583	missense	4907	exon3			GTGGACGTCGTGG	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.712G>A	6.37:g.86181104G>A	ENSP00000257770:p.Val238Ile	Somatic	148	2		WXS	Illumina GAIIx	Phase_I	158	14	NM_001204813	0	0	2	3	1	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	6.552	0.470143	0.12461	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369646;ENST00000369651	D;D;D	0.84730	-1.89;-1.89;-1.89	4.89	3.0	0.34707	Metallophosphoesterase domain (1);	0.112168	0.64402	N	0.000012	T	0.66607	0.2806	L	0.48362	1.52	0.39663	D	0.970642	B;B;B	0.23806	0.028;0.028;0.091	B;B;B	0.24006	0.038;0.05;0.042	T	0.59300	-0.7480	10	0.21540	T	0.41	-9.6163	11.0609	0.47946	0.1606:0.0:0.8394:0.0	.	238;238;238	B3KQI8;P21589;Q96B60	.;5NTD_HUMAN;.	I	14;238;238;238	ENSP00000257770:V238I;ENSP00000358660:V238I;ENSP00000358665:V238I	ENSP00000257770:V238I	V	+	1	0	NT5E	86237823	0.998000	0.40836	0.923000	0.36655	0.993000	0.82548	2.296000	0.43584	0.508000	0.28173	0.561000	0.74099	GTC	.		0.418	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			A	86181104	G	A	86181104	3	1	9	1	0	0	0	0	1	0	0	0	10732	1145	40	1	722	1	NT5E	6	86181104	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1889045	86181104	84933963	248	1835											
NT5E	4907	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	86195053	86195053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggcctatgcttttggCaaatacctaggctatctgaa	9	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:86195053C>A	ENST00000257770.3	+	4	901	c.852C>A	c.(850-852)ggC>ggA	p.G284G	NT5E_ENST00000369651.3_Silent_p.G284G	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	284					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ATGCTTTTGGCAAATACCTAG	0.468																																					p.G284G	Melanoma(140;797 1765 2035 2752 18208)	.											.	NT5E-93	0			c.C852A						.						144	124	130					6																	86195053		2203	4300	6503	SO:0001819	synonymous_variant	4907	exon4			TTTTGGCAAATAC	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.852C>A	6.37:g.86195053C>A		Somatic	139	1		WXS	Illumina GAIIx	Phase_I	186	43	NM_001204813	0	0	1	2	1	B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241251	0.22711	.	.	ENSG00000135318	ENST00000416334	.	.	.	5.63	2.5	0.30297	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56884	-0.7905	4	.	.	.	-11.3411	13.4595	0.61219	0.6931:0.3069:0.0:0.0	.	.	.	.	E	49	.	.	A	+	2	0	NT5E	86251772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.070000	0.30653	0.693000	0.31634	0.462000	0.41574	GCA	.		0.468	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			A	86195053	C	A	86195053	2	1	9	1	0	0	0	0	0	0	0	1	10732	697	25	3		3	NT5E	6	86195053	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	13949	86195053	84920014	249	1836											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	9	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	13088323	99283376	71831691	250	1837											
USP45	85015	bcgsc.ca	37	chr6	99956553	99956553	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgcccatcatagaatcttCtttcttttaaacattctgag	5	10	5	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:99956553C>A	ENST00000327681.6	-	3	738	c.206G>T	c.(205-207)aGa>aTa	p.R69I	USP45_ENST00000500704.2_Missense_Mutation_p.R69I|USP45_ENST00000369231.3_Missense_Mutation_p.R69I|USP45_ENST00000369233.2_Missense_Mutation_p.R69I|USP45_ENST00000329966.6_Missense_Mutation_p.R69I|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.R69I	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	69					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAATCTTCTTTCTTTTAA	0.373																																					p.R69I		.											.	USP45-637	0			c.G206T						.						98	94	96					6																	99956553		2203	4300	6503	SO:0001583	missense	85015	exon3			AATCTTCTTTCTT	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.206G>T	6.37:g.99956553C>A	ENSP00000333376:p.Arg69Ile	Somatic	98	3		WXS	Illumina GAIIx	Phase_I	75	24	NM_001080481	0	0	3	3	0	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072617	0.93950	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63985	-0.6513	10	0.54805	T	0.06	.	18.6434	0.91402	0.0:1.0:0.0:0.0	.	69;69	D6RBV3;Q70EL2	.;UBP45_HUMAN	I	69	ENSP00000424372:R69I;ENSP00000333376:R69I;ENSP00000358236:R69I;ENSP00000330540:R69I;ENSP00000423993:R69I;ENSP00000358234:R69I	ENSP00000333376:R69I	R	-	2	0	USP45	100063274	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	5.328000	0.65887	2.518000	0.84900	0.491000	0.48974	AGA	.		0.373	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		A	99956553	C	A	99956553	3	1	9	1	0	0	0	0	1	0	0	0	17125	913	32	3	2302	3	USP45	6	99956553	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	673177	99956553	71158514	251	1838											
SIM1	6492	hgsc.bcm.edu;bcgsc.ca	37	chr6	100898139	100898139	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatatgtgaaccactcacCtacctgagaaagacccaagt	9	11	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:100898139C>A	ENST00000369208.3	-	4	1131				SIM1_ENST00000262901.4_Intron			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	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(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AACCACTCACCTACCTGAGAA	0.557																																					p.E118X		.											.	SIM1-94	0			c.G352T						.						174	158	163					6																	100898139		2203	4300	6503	SO:0001627	intron_variant	6492	exon3			ACTCACCTACCTG	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.348+3G>T	6.37:g.100898139C>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	84	7	NM_005068	0	0	0	0	0	Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																			.		0.557	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		A	100898139	C	A	100898139	1	1	9	0	1	0	0	0	0	0	0	0	14368	695	24	3		3	SIM1	6	100898139	Intron	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	941586	100898139	70216928	252	1839											
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	102503296	102503296	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaaatggtggaggggCaatggttgcccagaagagga	18	4	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:102503296C>A	ENST00000421544.1	+	15	2893	c.2403C>A	c.(2401-2403)ggC>ggA	p.G801G	GRIK2_ENST00000369138.1_Silent_p.G801G|GRIK2_ENST00000369137.3_Silent_p.G725G|GRIK2_ENST00000318991.6_Silent_p.G801G|GRIK2_ENST00000369134.4_Silent_p.G752G|GRIK2_ENST00000413795.1_Silent_p.G801G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	801					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)	GGTGGAGGGGCAATGGTTGCC	0.488																																					p.G801G		.											.	GRIK2-157	0			c.C2403A						.						105	106	106					6																	102503296		2203	4300	6503	SO:0001819	synonymous_variant	2898	exon15			GAGGGGCAATGGT		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.2403C>A	6.37:g.102503296C>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	145	45	NM_021956	0	0	0	0	0	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																			.		0.488	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102503296	C	A	102503296	2	1	9	1	0	0	0	0	0	0	0	1	6801	697	25	3		3	GRIK2	6	102503296	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1605157	102503296	68611771	253	1840											
AIM1	202	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	106975232	106975232	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcactccatccccttagaaGaaggagaattggaactctct	9	11	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:106975232G>T	ENST00000369066.3	+	5	3728	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		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)		CCCCTTAGAAGAAGGAGAATT	0.433																																					p.E1081X		.											.	AIM1-139	0			c.G3241T						.						184	177	179					6																	106975232		2203	4300	6503	SO:0001587	stop_gained	202	exon5			TTAGAAGAAGGAG	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.3241G>T	6.37:g.106975232G>T	ENSP00000358062:p.Glu1081*	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	238	27	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	46	12.940518	0.99707	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	0.046204	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2966	0.94124	0.0:0.0:1.0:0.0	.	.	.	.	X	1081	.	ENSP00000358062:E1081X	E	+	1	0	AIM1	107081925	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.115000	0.89572	2.630000	0.89119	0.650000	0.86243	GAA	.		0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106975232	G	T	106975232	4	4	9	1	0	0	0	0	0	1	0	0	430	943	33	3	3259	3	AIM1	6	106975232	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4471936	106975232	64139835	254	1841											
AKD1	221264	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	109850273	109850273	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcttttagcaatcgtatCaacctgttaaagaaagagac	6	9	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:109850273C>A	ENST00000424296.2	-	29	3650	c.3574G>T	c.(3574-3576)Gat>Tat	p.D1192Y	AK9_ENST00000341338.6_Missense_Mutation_p.D271Y|AK9_ENST00000355283.1_Missense_Mutation_p.D271Y	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1192	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GCAATCGTATCAACCTGTTAA	0.299																																					p.D1192Y		.											.	AKD1-91	0			c.G3574T						.						76	76	76					6																	109850273		2202	4299	6501	SO:0001583	missense	221264	exon29			TCGTATCAACCTG	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3574G>T	6.37:g.109850273C>A	ENSP00000410186:p.Asp1192Tyr	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	24	6	NM_001145128	0	0	0	0	0	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.837695|1.837695	0.32513|0.32513	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338|ENST00000470564;ENST00000491875	T;T;T|.	0.65549|.	-0.16;-0.12;-0.16|.	3.99|3.99	3.13|3.13	0.36017|0.36017	ATPase, AAA+ type, core (1);|.	0.323259|.	0.31909|.	N|.	0.006875|.	T|T	0.22085|0.22085	0.0532|0.0532	L|L	0.42245|0.42245	1.32|1.32	0.20196|0.20196	N|N	0.999924|0.999924	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.66847|.	0.935;0.947|.	T|T	0.13980|0.13980	-1.0489|-1.0489	9|5	.|.	.|.	.|.	.|.	10.0095|10.0095	0.41977|0.41977	0.0:0.9058:0.0:0.0942|0.0:0.9058:0.0:0.0942	.|.	271;1192|.	Q5TCS8-5;Q5TCS8|.	.;AKD1_HUMAN|.	Y|F	1192;271;271|29;126	ENSP00000410186:D1192Y;ENSP00000347431:D271Y;ENSP00000344637:D271Y|.	.|.	D|L	-|-	1|3	0|2	AKD1|AKD1	109956966|109956966	0.267000|0.267000	0.24122|0.24122	0.519000|0.519000	0.27824|0.27824	0.175000|0.175000	0.22909|0.22909	1.426000|1.426000	0.34870|0.34870	0.907000|0.907000	0.36646|0.36646	0.655000|0.655000	0.94253|0.94253	GAT|TTG	.		0.299	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		A	109850273	C	A	109850273	3	1	9	1	0	0	0	0	1	0	0	0	460	826	29	3	2213	3	AKD1	6	109850273	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2875041	109850273	61264794	255	1842											
FIG4	9896	broad.mit.edu	37	chr6	110112598	110112598	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaacaaaagcaatagagaaGaagctgtattacagcggaaa	10	5	0	2	rs372846619		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:110112598G>T	ENST00000230124.3	+	20	2324	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.E457*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	734					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAATAGAGAAGAAGCTGTATT	0.502																																					p.E734X		.											.	FIG4-69	0			c.G2200T						.						64	77	72					6																	110112598		2203	4300	6503	SO:0001587	stop_gained	9896	exon20			AGAGAAGAAGCTG	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.2200G>T	6.37:g.110112598G>T	ENSP00000230124:p.Glu734*	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_014845	0	0	7	7	0	Q53H49|Q5TCS6	Nonsense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	41	8.576291	0.98870	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-28.6196	19.9832	0.97338	0.0:0.0:1.0:0.0	.	.	.	.	X	457;734;41	.	ENSP00000230124:E734X	E	+	1	0	FIG4	110219291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.656000	0.83736	2.722000	0.93159	0.655000	0.94253	GAA	.		0.502	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		T	110112598	G	T	110112598	4	4	9	1	0	0	0	0	0	1	0	0	5910	943	33	3	2278	3	FIG4	6	110112598	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	262325	110112598	61002469	256	1843											
GOPC	57120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	117923266	117923266	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctgtcgcccctcataagtGatgtccgcttggtctggatc	10	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:117923266G>T	ENST00000368498.2	-	1	261	c.186C>A	c.(184-186)atC>atA	p.I62I	GOPC_ENST00000535237.1_Silent_p.I62I|GOPC_ENST00000052569.6_Silent_p.I62I	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	62					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTCATAAGTGATGTCCGCTT	0.542			O	ROS1	glioblastoma						OREG0017633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I62I		.		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	.	GOPC-676	0			c.C186A						.						95	83	87					6																	117923266		2203	4300	6503	SO:0001819	synonymous_variant	57120	exon1			ATAAGTGATGTCC	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.186C>A	6.37:g.117923266G>T		Somatic	95	0	1484	WXS	Illumina GAIIx	Phase_I	114	20	NM_001017408	0	0	3	3	0	A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	CCDS5117.1																																																																																			.		0.542	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		T	117923266	G	T	117923266	2	4	9	1	0	0	0	0	0	0	0	1	6599	1280	45	3		3	GOPC	6	117923266	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7810668	117923266	53191801	257	1844											
FAM184A	79632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	119285913	119285913	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttctcgattgactaattcCagctgataaaacttattatc	5	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:119285913C>A	ENST00000338891.7	-	16	3500	c.3057G>T	c.(3055-3057)ctG>ctT	p.L1019L	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Silent_p.L850L|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1019						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						TGACTAATTCCAGCTGATAAA	0.299																																					p.L1019L		.											.	FAM184A-519	0			c.G3057T						.						102	91	94					6																	119285913		1805	4065	5870	SO:0001819	synonymous_variant	79632	exon16			TAATTCCAGCTGA	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.3057G>T	6.37:g.119285913C>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	66	12	NM_024581	0	0	1	1	0	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917760	0.17982	.	.	ENSG00000111879	ENST00000517987	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.2003	13.2245	0.59907	0.0:0.9275:0.0:0.0725	.	.	.	.	X	5	.	.	G	-	1	0	FAM184A	119327612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.267000	0.51577	2.721000	0.93114	0.655000	0.94253	GGA	.		0.299	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		A	119285913	C	A	119285913	2	1	9	1	0	0	0	0	0	0	0	1	5530	581	21	3		3	FAM184A	6	119285913	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1362647	119285913	51829154	258	1845											
GJA1	2697	ucsc.edu	37	chr6	121768481	121768481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcagtatcctcttcaagtCtatctttgaggtggccttct	7	11	6	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:121768481C>A	ENST00000282561.3	+	2	645	c.488C>A	c.(487-489)tCt>tAt	p.S163Y		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	163					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)	CTCTTCAAGTCTATCTTTGAG	0.453																																					p.S163Y		.											.	GJA1-92	0			c.C488A						.						115	108	110					6																	121768481		2203	4300	6503	SO:0001583	missense	2697	exon2			TCAAGTCTATCTT	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.488C>A	6.37:g.121768481C>A	ENSP00000282561:p.Ser163Tyr	Somatic	205	4		WXS	Illumina GAIIx	Phase_I	247	42	NM_000165	0	0	51	55	4	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401478	0.62288	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97404	-4.37	5.66	4.78	0.61160	.	0.055145	0.85682	D	0.000000	D	0.97723	0.9253	M	0.80746	2.51	0.58432	D	0.999998	D	0.64830	0.994	P	0.59221	0.854	D	0.98047	1.0385	10	0.87932	D	0	.	16.5756	0.84635	0.0:0.8694:0.1306:0.0	.	163	P17302	CXA1_HUMAN	Y	147;163	ENSP00000282561:S163Y	ENSP00000282561:S163Y	S	+	2	0	GJA1	121810180	1.000000	0.71417	0.944000	0.38274	0.898000	0.52572	7.776000	0.85560	1.381000	0.46364	0.460000	0.39030	TCT	.		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		A	121768481	C	A	121768481	3	1	9	1	0	0	0	0	1	0	0	0	6426	913	32	3	490	3	GJA1	6	121768481	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2482568	121768481	49346586	259	1846											
NCOA7	135112	broad.mit.edu	37	chr6	126210486	126210486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcttctcaaactggtggtgGaatgcacaaaaaagacacct	8	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:126210486G>T	ENST00000368357.3	+	10	1638	c.1286G>T	c.(1285-1287)gGa>gTa	p.G429V	NCOA7_ENST00000229634.9_Missense_Mutation_p.G314V|NCOA7_ENST00000392477.2_Missense_Mutation_p.G429V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	429					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACTGGTGGTGGAATGCACAAA	0.413																																					p.G429V		.											.	NCOA7-227	0			c.G1286T						.						60	64	63					6																	126210486		2203	4300	6503	SO:0001583	missense	135112	exon10			GTGGTGGAATGCA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1286G>T	6.37:g.126210486G>T	ENSP00000357341:p.Gly429Val	Somatic	65	2		WXS	Illumina GAIIx	Phase_I	87	23	NM_001199619	0	0	2	2	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369231	0.24771	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.35421	2.59;2.59;2.63;1.31	5.28	4.39	0.52855	.	0.355711	0.33023	N	0.005366	T	0.31544	0.0800	L	0.32530	0.975	0.29284	N	0.86982	P;P;D	0.71674	0.895;0.937;0.998	B;P;D	0.64687	0.368;0.572;0.928	T	0.04840	-1.0923	10	0.56958	D	0.05	-6.2332	10.271	0.43483	0.1472:0.0:0.8528:0.0	.	418;418;429	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	V	429;429;314;227	ENSP00000357341:G429V;ENSP00000376269:G429V;ENSP00000229634:G314V;ENSP00000389186:G227V	ENSP00000229634:G314V	G	+	2	0	NCOA7	126252179	0.000000	0.05858	0.980000	0.43619	0.029000	0.11900	0.440000	0.21592	2.744000	0.94065	0.655000	0.94253	GGA	.		0.413	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		T	126210486	G	T	126210486	3	4	9	1	0	0	0	0	1	0	0	0	10273	1174	41	3	1316	3	NCOA7	6	126210486	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4442005	126210486	44904581	260	1847											
MED23	9439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	131927695	131927695	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgagcttttctattgagatGaatccaaatacaggtcattg	8	6	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:131927695G>T	ENST00000368068.3	-	13	1470	c.1291C>A	c.(1291-1293)Cat>Aat	p.H431N	MED23_ENST00000354577.4_Missense_Mutation_p.H437N|MED23_ENST00000368053.4_Missense_Mutation_p.H437N|MED23_ENST00000403834.3_Missense_Mutation_p.H437N|MED23_ENST00000368058.1_Missense_Mutation_p.H437N|MED23_ENST00000540546.1_Missense_Mutation_p.H437N|MED23_ENST00000545957.1_Missense_Mutation_p.H72N|MED23_ENST00000539158.1_Missense_Mutation_p.H431N|MED23_ENST00000368060.3_Missense_Mutation_p.H431N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	431					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTATTGAGATGAATCCAAATA	0.353																																					p.H437N		.											.	MED23-24	0			c.C1309A						.						105	104	104					6																	131927695		2203	4300	6503	SO:0001583	missense	9439	exon14			TGAGATGAATCCA	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1291C>A	6.37:g.131927695G>T	ENSP00000357047:p.His431Asn	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	166	33	NM_015979	0	0	1	5	4	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942374	0.92526	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	M	0.65975	2.015	0.80722	D	1	D;P;D;D	0.89917	1.0;0.908;1.0;1.0	D;P;D;D	0.79784	0.986;0.888;0.993;0.988	T	0.81741	-0.0794	10	0.33940	T	0.23	-0.1681	19.6667	0.95895	0.0:0.0:1.0:0.0	.	72;437;431;437	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	N	437;431;437;431;437;72;437;437;431	ENSP00000346588:H437N;ENSP00000357047:H431N;ENSP00000384536:H437N;ENSP00000357039:H431N;ENSP00000357037:H437N;ENSP00000439977:H72N;ENSP00000357032:H437N;ENSP00000437818:H437N;ENSP00000445072:H431N	ENSP00000346588:H437N	H	-	1	0	MED23	131969388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.823000	0.99369	2.632000	0.89209	0.650000	0.86243	CAT	.		0.353	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			T	131927695	G	T	131927695	3	4	9	1	0	0	0	0	1	0	0	0	9479	1290	45	3	2890	3	MED23	6	131927695	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5717209	131927695	39187372	261	1848											
TAAR5	9038	bcgsc.ca	37	chr6	132910431	132910431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacagatggcacagtggCggtcaatggaaatgaaacag	14	7	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:132910431C>A	ENST00000258034.2	-	1	446	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582																																					p.R132L		.											.	TAAR5-91	0			c.G395T						.						100	109	106					6																	132910431		2203	4300	6503	SO:0001583	missense	9038	exon1			CAGTGGCGGTCAA	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.395G>T	6.37:g.132910431C>A	ENSP00000258034:p.Arg132Leu	Somatic	231	2		WXS	Illumina GAIIx	Phase_I	291	14	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561571	0.86335	.	.	ENSG00000135569	ENST00000258034	D	0.97161	-4.27	5.58	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.99174	0.9714	H	0.99565	4.63	0.49915	D	0.999834	D	0.89917	1.0	D	0.81914	0.995	D	0.98621	1.0667	10	0.87932	D	0	-16.1638	14.574	0.68232	0.0:0.9306:0.0:0.0694	.	132	O14804	TAAR5_HUMAN	L	132	ENSP00000258034:R132L	ENSP00000258034:R132L	R	-	2	0	TAAR5	132952124	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.860000	0.69546	1.605000	0.50152	-0.136000	0.14681	CGC	.		0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		A	132910431	C	A	132910431	3	1	9	1	0	0	0	0	1	0	0	0	15538	768	27	2	622	2	TAAR5	6	132910431	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	982736	132910431	38204636	262	1849											
MYB	4602	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	135513461	135513461	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtgatatatttctgtgcaGaactgataatgctatcaaga	9	5	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:135513461G>T	ENST00000367814.4	+	6	713		c.e6-1		MYB_ENST00000534044.1_Splice_Site|MYB_ENST00000527615.1_Splice_Site|MYB_ENST00000420123.2_Splice_Site|MYB_ENST00000533624.1_Splice_Site|MYB_ENST00000528774.1_Splice_Site|MYB_ENST00000442647.2_Splice_Site|MYB_ENST00000525369.1_Splice_Site|MYB_ENST00000534121.1_Splice_Site|MYB_ENST00000531845.1_Splice_Site|MYB_ENST00000316528.8_Splice_Site|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000341911.5_Splice_Site	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTCTGTGCAGAACTGATAAT	0.398			T	NFIB	adenoid cystic carcinoma																																.		.		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	MYB-838	0			c.528-1G>T						.						50	52	51					6																	135513461		2203	4300	6503	SO:0001630	splice_region_variant	4602	exon6			TGTGCAGAACTGA		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.528-1G>T	6.37:g.135513461G>T		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	83	8	NM_001161660	0	0	0	0	0	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Splice_Site	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675109	0.88445	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6152	0.95630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYB	135555154	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.822000	0.99363	2.628000	0.89032	0.655000	0.94253	.	.		0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		Intron	T	135513461	G	T	135513461	5	4	9	1	0	0	0	0	0	0	1	0	10045	956	33	3	549	3	MYB	6	135513461	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2603030	135513461	35601606	263	1850											
MYB	4602	bcgsc.ca	37	chr6	135517036	135517036	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcctggctccctacctgaaGaaagcgcctcgccagcaagg	10	15	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:135517036G>T	ENST00000367814.4	+	9	1285	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	MYB_ENST00000534044.1_Nonsense_Mutation_p.E367*|MYB_ENST00000527615.1_Nonsense_Mutation_p.E367*|MYB_ENST00000533624.1_Nonsense_Mutation_p.E332*|MYB_ENST00000528774.1_Nonsense_Mutation_p.E364*|MYB_ENST00000442647.2_Nonsense_Mutation_p.E364*|MYB_ENST00000525369.1_Intron|MYB_ENST00000534121.1_Nonsense_Mutation_p.E367*|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Nonsense_Mutation_p.E367*|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000341911.5_Nonsense_Mutation_p.E367*	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	367	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCTACCTGAAGAAAGCGCCTC	0.512			T	NFIB	adenoid cystic carcinoma																																p.E367X		.		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	MYB-838	0			c.G1099T						.						108	88	94					6																	135517036		2203	4300	6503	SO:0001587	stop_gained	4602	exon9			CCTGAAGAAAGCG		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1099G>T	6.37:g.135517036G>T	ENSP00000356788:p.Glu367*	Somatic	103	3		WXS	Illumina GAIIx	Phase_I	136	72	NM_001161659	0	0	0	0	0	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Nonsense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	37	6.362990	0.97507	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-17.0352	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	367;364;367;367;367;367;364;367;367;332	.	ENSP00000237302:E367X	E	+	1	0	MYB	135558729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.824000	0.97209	0.655000	0.94253	GAA	.		0.512	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			T	135517036	G	T	135517036	4	4	9	1	0	0	0	0	0	1	0	0	10045	943	33	3	1133	3	MYB	6	135517036	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3575	135517036	35598031	264	1851											
HECA	51696	broad.mit.edu	37	chr6	139487898	139487898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccatggaccggcagaactCccaggagaaggcagtgggtg	15	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:139487898C>A	ENST00000367658.2	+	2	1034	c.749C>A	c.(748-750)tCc>tAc	p.S250Y	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	250					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CGGCAGAACTCCCAGGAGAAG	0.682																																					p.S250Y		.											.	HECA-90	0			c.C749A						.						15	18	17					6																	139487898		2199	4299	6498	SO:0001583	missense	51696	exon2			AGAACTCCCAGGA	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.749C>A	6.37:g.139487898C>A	ENSP00000356630:p.Ser250Tyr	Somatic	65	2		WXS	Illumina GAIIx	Phase_I	116	13	NM_016217	0	0	0	0	0		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013590	0.75161	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.26	0.50523	.	0.105169	0.64402	D	0.000002	T	0.51753	0.1693	N	0.24115	0.695	0.58432	D	0.999997	D	0.71674	0.998	D	0.63381	0.914	T	0.62011	-0.6944	9	0.72032	D	0.01	.	15.7184	0.77688	0.0:0.8629:0.1371:0.0	.	250	Q9UBI9	HDC_HUMAN	Y	250	.	ENSP00000356630:S250Y	S	+	2	0	HECA	139529591	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.442000	0.66575	1.377000	0.46286	0.655000	0.94253	TCC	.		0.682	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		A	139487898	C	A	139487898	3	1	9	1	0	0	0	0	1	0	0	0	7065	855	30	3	755	3	HECA	6	139487898	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3970862	139487898	31627169	265	1852											
HIVEP2	3097	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	143094923	143094923	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcattggacctcccaatGattcttccaatgacccatga	5	14	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:143094923G>T	ENST00000367604.1	-	4	1592	c.953C>A	c.(952-954)tCa>tAa	p.S318*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.S318*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.S318*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	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)			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)		ACCTCCCAATGATTCTTCCAA	0.473																																					p.S318X	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2-95	0			c.C953A						.						75	73	74					6																	143094923		1885	4104	5989	SO:0001587	stop_gained	3097	exon5			CCCAATGATTCTT	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.953C>A	6.37:g.143094923G>T	ENSP00000356576:p.Ser318*	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	65	14	NM_006734	0	0	0	0	0	Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	43	10.181362	0.99353	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.41	5.41	0.78517	.	0.219617	0.42172	D	0.000755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-16.1354	19.7389	0.96218	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000012134:S318X	S	-	2	0	HIVEP2	143136616	1.000000	0.71417	0.793000	0.32043	0.994000	0.84299	7.265000	0.78442	2.747000	0.94245	0.644000	0.83932	TCA	.		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143094923	G	T	143094923	4	4	9	1	0	0	0	0	0	1	0	0	7214	1294	45	3	6411	3	HIVEP2	6	143094923	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3607025	143094923	28020144	266	1853											
GRM1	2911	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	146708064	146708064	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctgctgctggatttgCacggcctgcaaagagaatga	14	8	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:146708064C>A	ENST00000282753.1	+	6	1876	c.1641C>A	c.(1639-1641)tgC>tgA	p.C547*	GRM1_ENST00000507907.1_Nonsense_Mutation_p.C547*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.C547*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.C547*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.C547*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.C547*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	547					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCTGGATTTGCACGGCCTGCA	0.418																																					p.C547X		.											.	GRM1-1080	0			c.C1641A						.						130	123	126					6																	146708064		2203	4300	6503	SO:0001587	stop_gained	2911	exon7			GATTTGCACGGCC	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.1641C>A	6.37:g.146708064C>A	ENSP00000282753:p.Cys547*	Somatic	91	2		WXS	Illumina GAIIx	Phase_I	109	26	NM_000838	0	0	0	0	0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423110	0.99166	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.45	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1821	0.42975	0.0:0.7258:0.0:0.2742	.	.	.	.	X	547	.	ENSP00000282753:C547X	C	+	3	2	GRM1	146749757	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	0.295000	0.19065	0.672000	0.31204	0.585000	0.79938	TGC	.		0.418	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146708064	C	A	146708064	4	1	9	1	0	0	0	0	0	1	0	0	6823	718	25	3	1663	3	GRM1	6	146708064	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3613141	146708064	24407003	267	1854											
GRM1	2911	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	146708146	146708146	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggtggcccaatgcagatCtaacaggtaggaactgcctc	12	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:146708146C>A	ENST00000282753.1	+	6	1958	c.1723C>A	c.(1723-1725)Cta>Ata	p.L575I	GRM1_ENST00000507907.1_Missense_Mutation_p.L575I|GRM1_ENST00000361719.2_Missense_Mutation_p.L575I|GRM1_ENST00000392299.2_Missense_Mutation_p.L575I|GRM1_ENST00000355289.4_Missense_Mutation_p.L575I|GRM1_ENST00000492807.2_Missense_Mutation_p.L575I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	575					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAATGCAGATCTAACAGGTAG	0.473																																					p.L575I		.											.	GRM1-1080	0			c.C1723A						.						185	175	179					6																	146708146		2203	4300	6503	SO:0001583	missense	2911	exon7			GCAGATCTAACAG	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.1723C>A	6.37:g.146708146C>A	ENSP00000282753:p.Leu575Ile	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	121	35	NM_000838	0	0	0	0	0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782533	0.49891	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.27;-2.3;-2.3;-2.27;-2.3;-2.3	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.83603	2.65	0.53688	D	0.99997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.948;0.991;0.958	D	0.91439	0.5172	10	0.72032	D	0.01	.	8.3425	0.32252	0.0:0.7618:0.0:0.2382	.	575;575;575	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	575	ENSP00000354896:L575I;ENSP00000376119:L575I;ENSP00000424095:L575I;ENSP00000282753:L575I;ENSP00000347437:L575I;ENSP00000425599:L575I	ENSP00000282753:L575I	L	+	1	2	GRM1	146749839	0.762000	0.28451	0.959000	0.39883	0.308000	0.27856	1.450000	0.35134	1.269000	0.44280	0.585000	0.79938	CTA	.		0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146708146	C	A	146708146	3	1	9	1	0	0	0	0	1	0	0	0	6823	912	32	3	1745	3	GRM1	6	146708146	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	82	146708146	24406921	268	1855											
ZC3H12D	340152	hgsc.bcm.edu	37	chr6	149772190	149772190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcaggccgggcggagGcgggaggtcgcccggggaga	23	10	0	1	rs112722576	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:149772190G>A	ENST00000409806.3	-	6	1531	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A307V|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A307V|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P405S			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	405	Pro-rich. {ECO:0000255}.			P -> S (in Ref. 4; AAI57833). {ECO:0000305}.	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)	p.P405S(1)		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)		CCGGGCGGAGGCGGGAGGTCG	0.776													G|||	1682	0.335863	0.1619	0.389	5008	,	,		8771	0.7649		0.1412	False		,,,				2504	0.2914				p.P405S		.											.	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1213T						.	G	SER/PRO	516,2856		37,442,1207	3	5	4		1213	-1.9	0	6	dbSNP_132	4	945,6567		66,813,2877	no	missense	ZC3H12D	NM_207360.2	74	103,1255,4084	AA,AG,GG		12.5799,15.3025,13.4234	benign	405/528	149772190	1461,9423	1686	3756	5442	SO:0001583	missense	340152	exon6			GCGGAGGCGGGAG			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.1213C>T	6.37:g.149772190G>A	ENSP00000386616:p.Pro405Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	21	12	NM_207360	0	0	0	0	0	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		724|724	0.3315018315018315|0.3315018315018315	94|94	0.1910569105691057|0.1910569105691057	123|123	0.3397790055248619|0.3397790055248619	399|399	0.6975524475524476|0.6975524475524476	108|108	0.1424802110817942|0.1424802110817942	G|G	14.21|14.21	2.466986|2.466986	0.43839|0.43839	0.153025|0.153025	0.125799|0.125799	ENSG00000178199|ENSG00000178199	ENST00000416573;ENST00000542614|ENST00000389942;ENST00000409806	T;T|T;T	0.31247|0.25749	1.53;1.5|1.78;1.78	2.45|2.45	-1.9|-1.9	0.07665|0.07665	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.11427|0.11427	0.14|0.14	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.42085|0.42085	-0.9472|-0.9472	8|8	0.27785|0.06365	T|T	0.31|0.9	1.0E-4|1.0E-4	3.5413|3.5413	0.07812|0.07812	0.5478:0.2181:0.2341:0.0|0.5478:0.2181:0.2341:0.0	.|.	307|405	B7WNU7|A2A288	.|ZC12D_HUMAN	V|S	307|405	ENSP00000408686:A307V;ENSP00000440813:A307V|ENSP00000374592:P405S;ENSP00000386616:P405S	ENSP00000408686:A307V|ENSP00000374592:P405S	A|P	-|-	2|1	0|0	ZC3H12D|ZC3H12D	149813883|149813883	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.563000|0.563000	0.35712|0.35712	0.541000|0.541000	0.23207|0.23207	-0.300000|-0.300000	0.08895|0.08895	0.313000|0.313000	0.20887|0.20887	GCC|CCT	G|0.668;A|0.332		0.776	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		A	149772190	G	A	149772190	3	1	9	1	0	0	0	0	1	0	0	0	17612	1203	42	3	374	3	ZC3H12D	6	149772190	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3064044	149772190	21342877	269	1856											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055067	151055067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacgcggatgagggcagcGaaaggccacccagagcgcag	16	11	0	3	rs199980034	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:151055067G>A	ENST00000358517.2	+	2	461	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.E84K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	84							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGAGGGCAGCGAAAGGCCACC	0.617													G|||	5	0.000998403	0	0.0072	5008	,	,		17213	0		0	False		,,,				2504	0				p.E84K		.											.	PLEKHG1-92	0			c.G250A						.						41	46	45					6																	151055067		2203	4300	6503	SO:0001583	missense	57480	exon3			GGCAGCGAAAGGC	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.250G>A	6.37:g.151055067G>A	ENSP00000351318:p.Glu84Lys	Somatic	86	2		WXS	Illumina GAIIx	Phase_I	122	15	NM_001029884	0	0	0	0	0	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	16.83	3.231862	0.58777	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59502	0.26;0.26	5.51	3.72	0.42706	.	0.702570	0.15332	N	0.267944	T	0.29458	0.0734	L	0.60455	1.87	0.09310	N	1	P;P	0.37158	0.585;0.585	B;B	0.25614	0.038;0.062	T	0.03910	-1.0993	9	.	.	.	.	12.0966	0.53758	0.1403:0.0:0.8597:0.0	.	84;84	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	K	84	ENSP00000356297:E84K;ENSP00000351318:E84K	.	E	+	1	0	PLEKHG1	151096760	0.238000	0.23825	0.003000	0.11579	0.005000	0.04900	1.865000	0.39479	0.798000	0.33994	0.655000	0.94253	GAA	G|0.999;A|0.001		0.617	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			A	151055067	G	A	151055067	3	1	9	1	0	0	0	0	1	0	0	0	12107	1059	37	1	252	1	PLEKHG1	6	151055067	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1282877	151055067	20060000	270	1857											
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	151647016	151647016	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgctggggaccatcaccatCacaggtaaggcacaagccag	11	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:151647016C>A	ENST00000253332.1	+	2	508				AKAP12_ENST00000402676.2_Intron|AKAP12_ENST00000354675.6_Silent_p.I7I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12						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)		CCATCACCATCACAGGTAAGG	0.582																																					p.I7I	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.C21A						.						75	68	71					6																	151647016		2203	4300	6503	SO:0001627	intron_variant	9590	exon1			CACCATCACAGGT	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.319+19978C>A	6.37:g.151647016C>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	70	12	NM_144497	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.582	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151647016	C	A	151647016	1	1	9	0	1	0	0	0	0	0	0	0	448	816	29	3		3	AKAP12	6	151647016	Intron	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	591949	151647016	19468051	271	1858											
SYNE1	23345	broad.mit.edu	37	chr6	152551838	152551838	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagccttccaacagctggatCtgaacaaacacaataaaatg	6	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:152551838C>A	ENST00000367255.5	-	115	21641		c.e115-1		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		ACAGCTGGATCTGAACAAACA	0.299										HNSCC(10;0.0054)																											.		.											.	SYNE1-607	0			c.20827-1G>T						.						65	59	61					6																	152551838		2203	4300	6503	SO:0001630	splice_region_variant	23345	exon115			CTGGATCTGAACA	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.21040-1G>T	6.37:g.152551838C>A		Somatic	48	2		WXS	Illumina GAIIx	Phase_I	50	8	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504997	0.85282	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152593531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	.	.		0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	A	152551838	C	A	152551838	5	1	9	1	0	0	0	0	0	0	1	0	15492	927	32	3	5555	3	SYNE1	6	152551838	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	904822	152551838	18563229	272	1859											
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	155566830	155566830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtacagtggattctgtgCtaaccatatcaaagtacaga	8	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:155566830C>A	ENST00000461783.3	+	21	4890	c.3617C>A	c.(3616-3618)gCt>gAt	p.A1206D	TIAM2_ENST00000360366.4_Missense_Mutation_p.A1230D|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1206D|TIAM2_ENST00000528391.2_Missense_Mutation_p.A542D|TIAM2_ENST00000456877.2_Missense_Mutation_p.A518D|TIAM2_ENST00000367174.2_Missense_Mutation_p.A582D|TIAM2_ENST00000275246.7_Missense_Mutation_p.A131D|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1206D|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1206D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1206	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGATTCTGTGCTAACCATATC	0.373																																					p.A1206D		.											.	TIAM2-93	0			c.C3617A						.						188	202	197					6																	155566830		2203	4300	6503	SO:0001583	missense	26230	exon18			TCTGTGCTAACCA		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3617C>A	6.37:g.155566830C>A	ENSP00000437188:p.Ala1206Asp	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	70	16	NM_012454	0	0	5	8	3	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423205	0.96111	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.76083	-0.3089	10	0.44086	T	0.13	.	19.2827	0.94058	0.0:1.0:0.0:0.0	.	542;1206;1230;1206	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	D	1206;1452;1206;1206;1206;582;1230;1206;518;542;131;144	ENSP00000437188:A1206D;ENSP00000434901:A1206D;ENSP00000407746:A1206D;ENSP00000327315:A1206D;ENSP00000356142:A582D;ENSP00000353528:A1230D;ENSP00000433348:A1206D;ENSP00000407183:A518D;ENSP00000435335:A542D;ENSP00000275246:A131D;ENSP00000431269:A144D	ENSP00000275246:A131D	A	+	2	0	TIAM2	155608522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.545000	0.85829	0.655000	0.94253	GCT	.		0.373	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155566830	C	A	155566830	3	1	9	1	0	0	0	0	1	0	0	0	15938	797	28	3	3679	3	TIAM2	6	155566830	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3014992	155566830	15548237	273	1860											
SLC22A2	6582	hgsc.bcm.edu	37	chr6	160663410	160663410	+	Missense_Mutation	SNP	A	A	G													ccattcttcccaagcatgagAtaataatttttagccattgt							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663410A>G	ENST00000366953.3	-	8	1562	c.1304T>C	c.(1303-1305)aTc>aCc	p.I435T	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	435					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAAGCATGAGATAATAATTTT	0.438																																					p.I435T		.											.	SLC22A2-154	0			c.T1304C						.						153	138	143					6																	160663410		2203	4300	6503	SO:0001583	missense	6582	exon8			CATGAGATAATAA	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1304T>C	6.37:g.160663410A>G	ENSP00000355920:p.Ile435Thr	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	114	14	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561409	0.27915	.	.	ENSG00000112499	ENST00000366953	T	0.74209	-0.82	5.13	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.465407	0.22299	N	0.061885	T	0.48786	0.1519	L	0.47716	1.5	0.31356	N	0.68198	B	0.10296	0.003	B	0.11329	0.006	T	0.49447	-0.8939	10	0.66056	D	0.02	.	7.3075	0.26455	0.7857:0.0:0.2143:0.0	.	435	O15244	S22A2_HUMAN	T	435	ENSP00000355920:I435T	ENSP00000355920:I435T	I	-	2	0	SLC22A2	160583400	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	2.841000	0.48223	1.069000	0.40788	0.533000	0.62120	ATC	.		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		G	160663410	A	G	160663410	3	3	9	1	0	0	0	0	1	0	0	0	14495	333	12	4	379	4	SLC22A2	6	160663410	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	5096580	160663410	10451657	274	1861	16	3									
SLC22A2	6582	hgsc.bcm.edu	37	chr6	160663414	160663438	+	Splice_Site	DEL	TAATTTTTAGCCATTGTAGATCTAA	TAATTTTTAGCCATTGTAGATCTAA	-													tcttcccaagcatgagataaTaatttttagccattgtagat					rs8177517	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	TAATTTTTAGCCATTGTAGATCTAA	TAATTTTTAGCCATTGTAGATCTAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663414_160663438delTAATTTTTAGCCATTGTAGATCTAA	ENST00000366953.3	-	8	1538_1558	c.1280_1300delTTAGATCTACAATGGCTAAAAATTA	c.(1279-1302)gttagatctacaatggctaaaaat>gat	p.VRSTMAKN427fs	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	427					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CATGAGATAATAATTTTTAGCCATTGTAGATCTAAGAGGGAAAAG	0.44																																					p.427_434del		.											.	SLC22A2-154	0			c.1280_1300del	GRCh37	CM024426	SLC22A2	M	rs8177517	.																																			SO:0001630	splice_region_variant	6582	exon8			AGATAATAATTTT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1280-1TTAGATCTACAATGGCTAAAAATTA>-	6.37:g.160663414_160663438delTAATTTTTAGCCATTGTAGATCTAA		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	106	0	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	In_Frame_Del	DEL	ENST00000366953.3	37	CCDS5276.1																																																																																			.		0.44	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	Frame_Shift_Del	-	160663438	TAATTTTTAGCCATTGTAGATCTAA	-	160663414	8	5	9	1	0	1	0	1	0	0	1	0	14495	1406	49	0	383	0	SLC22A2	6	160663414	Splice_Site	DEL	TAATTTTTAGCCATTGTAGATCTAA	TCGA-OR-A5JA-01A-11D-A29I-10	4	160663414	10451653	275	1862	16	3									
SLC22A2	6582	bcgsc.ca	37	chr6	160663424	160663435	+	Splice_Site	DEL	CCATTGTAGATC	CCATTGTAGATC	-													catgagataataatttttagCcattgtagatctaagaggga							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	CCATTGTAGATC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr6:160663424_160663435delCCATTGTAGATC	ENST00000366953.3	-	8	1538_1548	c.1280_1290delGATCTACAATGG	c.(1279-1290)ggatctacaatg>g	p.GSTM427del	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	427					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TAATTTTTAGCCATTGTAGATCTAAGAGGGAA	0.439																																					p.427_430del		.											.	SLC22A2-154	0			c.1280_1290del						.																																			SO:0001630	splice_region_variant	6582	exon8			TTTTAGCCATTGT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1280-1GATCTACAATGG>-	6.37:g.160663424_160663435delCCATTGTAGATC		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	92	6	NM_003058	0	0	0	0	0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Del	DEL	ENST00000366953.3	37	CCDS5276.1																																																																																			.		0.439	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	In_Frame_Del	-	160663435	CCATTGTAGATC	-	160663424	8	5	9	1	0	1	0	1	0	0	1	0	14495	740	26	0	393	0	SLC22A2	6	160663424	Splice_Site	DEL	CCATTGTAGATC	TCGA-OR-A5JA-01A-11D-A29I-10	10	160663424	10451643	276	1863	16	3									
AMZ1	155185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	2752257	2752257	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacggtggctggccatgtgCatccaggccctgcagcggga	16	12	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:2752257C>A	ENST00000312371.4	+	7	1610	c.1242C>A	c.(1240-1242)tgC>tgA	p.C414*	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	414							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGGCCATGTGCATCCAGGCCC	0.677																																					p.C414X		.											.	AMZ1-90	0			c.C1242A						.						41	38	39					7																	2752257		2203	4298	6501	SO:0001587	stop_gained	155185	exon7			CATGTGCATCCAG	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1242C>A	7.37:g.2752257C>A	ENSP00000308149:p.Cys414*	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	194	20	NM_133463	0	0	1	1	0	B3KRS0|Q8TF51	Nonsense_Mutation	SNP	ENST00000312371.4	37	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	38	7.017514	0.98006	.	.	ENSG00000174945	ENST00000312371	.	.	.	4.67	2.86	0.33363	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.5077	9.0441	0.36336	0.0:0.8366:0.0:0.1634	.	.	.	.	X	414	.	ENSP00000308149:C414X	C	+	3	2	AMZ1	2718783	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	2.319000	0.43788	0.402000	0.25451	0.462000	0.41574	TGC	.		0.677	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		A	2752257	C	A	2752257	4	1	9	1	0	0	0	0	0	1	0	0	596	718	25	3	1264	3	AMZ1	7	2752257	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		2752257	156386406	277	1864											
KIAA0415	9907	broad.mit.edu	37	chr7	4828476	4828476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgtgtcctcaggttggCgccactccaccagctgctgc	10	16	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:4828476C>T	ENST00000348624.4	+	13	1695	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.A534V|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	534					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCAGGTTGGCGCCACTCCAC	0.697																																					p.A534V		.											.	.	0			c.C1601T						.						16	19	18					7																	4828476		2194	4279	6473	SO:0001583	missense	9907	exon13			GGTTGGCGCCACT	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1601C>T	7.37:g.4828476C>T	ENSP00000297562:p.Ala534Val	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	210	8	NM_014855	0	0	0	0	0	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	4.049	0.006790	0.07866	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.46451	0.87;0.87	5.1	0.0527	0.14303	.	0.504809	0.22144	N	0.064013	T	0.24122	0.0584	L	0.40543	1.245	0.09310	N	1	B	0.22211	0.066	B	0.11329	0.006	T	0.11397	-1.0589	10	0.27082	T	0.32	.	1.4007	0.02270	0.1334:0.3601:0.2608:0.2456	.	534	O43299	K0415_HUMAN	V	534	ENSP00000297562:A534V;ENSP00000384980:A534V	ENSP00000297562:A534V	A	+	2	0	KIAA0415	4795002	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.054000	0.11826	-0.346000	0.08312	-0.850000	0.03035	GCG	.		0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4828476	C	T	4828476	3	4	9	1	0	0	0	0	1	0	0	0	8202	768	27	1	1651	1	KIAA0415	7	4828476	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2076219	4828476	154310187	278	1865											
C1GALT1	56913	broad.mit.edu;bcgsc.ca	37	chr7	7283285	7283285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatatcaacctaccttacCtgaacgtatactaaaggaaa	5	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:7283285C>T	ENST00000223122.3	+	3	1081	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	C1GALT1_ENST00000436587.2_Missense_Mutation_p.P340L			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	340					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CCTACCTTACCTGAACGTATA	0.313																																					p.P340L		.											.	C1GALT1-90	0			c.C1019T						.						119	111	114					7																	7283285		2203	4299	6502	SO:0001583	missense	56913	exon4			CCTTACCTGAACG	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.1019C>T	7.37:g.7283285C>T	ENSP00000223122:p.Pro340Leu	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	140	53	NM_020156	0	0	25	46	21	Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340098	0.60963	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.59364	0.27;0.27	4.64	4.64	0.57946	.	0.265631	0.31279	N	0.007939	T	0.52500	0.1738	L	0.46670	1.46	0.58432	D	0.999999	P	0.35821	0.523	B	0.32624	0.149	T	0.59343	-0.7472	10	0.56958	D	0.05	-6.2838	18.39	0.90479	0.0:1.0:0.0:0.0	.	340	Q9NS00	C1GLT_HUMAN	L	340	ENSP00000389176:P340L;ENSP00000223122:P340L	ENSP00000223122:P340L	P	+	2	0	C1GALT1	7249810	0.263000	0.24083	1.000000	0.80357	0.945000	0.59286	2.755000	0.47540	2.520000	0.84964	0.655000	0.94253	CCT	.		0.313	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		T	7283285	C	T	7283285	3	4	9	1	0	0	0	0	1	0	0	0	1959	681	24	3	1029	3	C1GALT1	7	7283285	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2454809	7283285	151855378	279	1866											
MACC1	346389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20180669	20180669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctccagtgtttagtcacaGggtttttcattctgtccaaa	7	10	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:20180669G>C	ENST00000400331.5	-	7	2767	c.2459C>G	c.(2458-2460)cCt>cGt	p.P820R	MACC1_ENST00000332878.4_Missense_Mutation_p.P820R|MACC1_ENST00000589011.1_Missense_Mutation_p.P820R|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	820					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTAGTCACAGGGTTTTTCAT	0.388																																					p.P820R		.											.	MACC1-93	0			c.C2459G						.						92	94	93					7																	20180669		2203	4300	6503	SO:0001583	missense	346389	exon7			GTCACAGGGTTTT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2459C>G	7.37:g.20180669G>C	ENSP00000383185:p.Pro820Arg	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	78	16	NM_182762	0	0	0	0	0	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881522	0.91740	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.5657	19.9351	0.97137	0.0:0.0:1.0:0.0	.	820	Q6ZN28	MACC1_HUMAN	R	820	ENSP00000383185:P820R;ENSP00000328410:P820R	ENSP00000328410:P820R	P	-	2	0	MACC1	20147194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CCT	.		0.388	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		C	20180669	G	C	20180669	3	2	9	1	0	0	0	0	1	0	0	0	9179	1000	35	3	103	3	MACC1	7	20180669	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	12897384	20180669	138957994	280	1867											
NUPL2	11097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	23240027	23240027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctgcagcttccagttttgGatcacctggattttcaggac	9	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:23240027G>T	ENST00000258742.5	+	7	1194	c.935G>T	c.(934-936)gGa>gTa	p.G312V		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	312	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGTTTTGGATCACCTGGA	0.507																																					p.G312V		.											.	NUPL2-228	0			c.G935T						.						64	62	63					7																	23240027		2203	4300	6503	SO:0001583	missense	11097	exon7			GTTTTGGATCACC	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.935G>T	7.37:g.23240027G>T	ENSP00000258742:p.Gly312Val	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	167	16	NM_007342	0	0	29	32	3	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642804	0.47153	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.60548	0.52;0.18	6.06	3.27	0.37495	.	0.265956	0.42172	D	0.000758	T	0.65719	0.2718	L	0.59436	1.845	0.58432	D	0.999999	D	0.58620	0.983	P	0.59825	0.864	T	0.64841	-0.6312	10	0.66056	D	0.02	-1.7152	9.4616	0.38787	0.1309:0.1191:0.75:0.0	.	312	O15504	NUPL2_HUMAN	V	312;337	ENSP00000258742:G312V;ENSP00000401475:G337V	ENSP00000258742:G312V	G	+	2	0	NUPL2	23206552	1.000000	0.71417	0.004000	0.12327	0.398000	0.30690	4.305000	0.59110	0.433000	0.26313	0.655000	0.94253	GGA	.		0.507	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		T	23240027	G	T	23240027	3	4	9	1	0	0	0	0	1	0	0	0	10814	1174	41	3	961	3	NUPL2	7	23240027	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3059358	23240027	135898636	281	1868											
WIPF3	644150	broad.mit.edu	37	chr7	29923681	29923681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacccttacccccgccccttCcctcttcctcccccatcaaa	1	25	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:29923681C>A	ENST00000409290.1	+	4	571	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	WIPF3_ENST00000242140.5_Missense_Mutation_p.P191T|WIPF3_ENST00000409123.1_Missense_Mutation_p.P191T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	191	Poly-Pro.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						cccgccccttccctcttcctc	0.726																																					p.P191T		.											.	WIPF3-69	0			c.C571A						.						5	4	4					7																	29923681		1112	2588	3700	SO:0001583	missense	644150	exon5			CCCCTTCCCTCTT	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.571C>A	7.37:g.29923681C>A	ENSP00000386878:p.Pro191Thr	Somatic	11	1		WXS	Illumina GAIIx	Phase_I	23	8	NM_001080529	0	0	1	1	0	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853642	0.32791	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.49720	0.77;0.77;0.77	3.48	3.48	0.39840	.	0.344451	0.22202	N	0.063229	T	0.53206	0.1782	L	0.28458	0.855	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.38001	-0.9681	10	0.59425	D	0.04	.	10.6514	0.45651	0.0:1.0:0.0:0.0	.	191	A6NGB9	WIPF3_HUMAN	T	191	ENSP00000386790:P191T;ENSP00000386878:P191T;ENSP00000242140:P191T	ENSP00000242140:P191T	P	+	1	0	WIPF3	29890206	0.010000	0.17322	0.089000	0.20774	0.065000	0.16274	0.746000	0.26275	1.939000	0.56221	0.448000	0.29417	CCC	.		0.726	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			A	29923681	C	A	29923681	3	1	9	1	0	0	0	0	1	0	0	0	17418	855	30	3	585	3	WIPF3	7	29923681	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6683654	29923681	129214982	282	1869											
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	33423320	33423320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatttgaagatctttggcTcataaccaatgagcttattc	6	8	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:33423320T>C	ENST00000242067.6	+	18	2353	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	BBS9_ENST00000354265.4_Missense_Mutation_p.L576P|BBS9_ENST00000355070.2_Missense_Mutation_p.L606P|BBS9_ENST00000396127.2_Missense_Mutation_p.L576P|BBS9_ENST00000350941.3_Missense_Mutation_p.L571P	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	611					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GATCTTTGGCTCATAACCAAT	0.338									Bardet-Biedl syndrome																												p.L611P		.											.	BBS9-230	0			c.T1832C						.						72	70	70					7																	33423320		2203	4298	6501	SO:0001583	missense	27241	exon18	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TTTGGCTCATAAC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1832T>C	7.37:g.33423320T>C	ENSP00000242067:p.Leu611Pro	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	104	15	NM_198428	0	0	8	9	1	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325003	0.81580	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.82323	2.585	0.80722	D	1	P;P;P;P;P	0.41008	0.735;0.735;0.735;0.735;0.735	P;P;P;P;P	0.51550	0.601;0.601;0.601;0.601;0.673	T	0.50849	-0.8779	10	0.56958	D	0.05	-12.0088	16.3604	0.83263	0.0:0.0:0.0:1.0	.	611;571;606;576;611	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	P	611;571;576;606;576;611	ENSP00000242067:L611P;ENSP00000313122:L571P;ENSP00000379433:L576P;ENSP00000347182:L606P;ENSP00000346214:L576P	ENSP00000242067:L611P	L	+	2	0	BBS9	33389845	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.476000	0.81055	2.260000	0.74910	0.528000	0.53228	CTC	.		0.338	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			C	33423320	T	C	33423320	3	2	9	1	0	0	0	0	1	0	0	0	1343	1551	54	4	1898	4	BBS9	7	33423320	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	3499639	33423320	125715343	283	1870											
AUTS2	26053	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	70255405	70255405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtacccttctttccactGggaccccatccgggacccct	7	20	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:70255405G>T	ENST00000342771.4	+	19	3524	c.3203G>T	c.(3202-3204)tGg>tTg	p.W1068L	AUTS2_ENST00000406775.2_Missense_Mutation_p.W1044L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1068										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCTTTCCACTGGGACCCCATC	0.622																																					p.W1068L		.											.	AUTS2-92	0			c.G3203T						.						23	27	25					7																	70255405		2201	4300	6501	SO:0001583	missense	26053	exon19			TCCACTGGGACCC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3203G>T	7.37:g.70255405G>T	ENSP00000344087:p.Trp1068Leu	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	76	7	NM_015570	0	0	0	0	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398682	0.83120	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.48201	0.82;0.86	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.85130	0.997;0.994;0.994	T	0.62464	-0.6849	9	.	.	.	-13.7225	16.7601	0.85509	0.0:0.0:1.0:0.0	.	520;1044;1068	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	L	1044;1068	ENSP00000385263:W1044L;ENSP00000344087:W1068L	.	W	+	2	0	AUTS2	69893341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.564000	0.82326	2.041000	0.60428	0.655000	0.94253	TGG	.		0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70255405	G	T	70255405	3	4	9	1	0	0	0	0	1	0	0	0	1226	1357	47	3	3422	3	AUTS2	7	70255405	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	36832085	70255405	88883258	284	1871											
RHBDD2	57414	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	75508485	75508485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcactgcgctgctctcgCtgctggtttccgggcctcgc	11	16	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:75508485C>A	ENST00000006777.6	+	1	220	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	29						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GCTGCTCTCGCTGCTGGTTTC	0.697																																					p.L29M		.											.	RHBDD2-90	0			c.C85A						.						9	12	11					7																	75508485		1860	3940	5800	SO:0001583	missense	57414	exon1			CTCTCGCTGCTGG	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.85C>A	7.37:g.75508485C>A	ENSP00000006777:p.Leu29Met	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	170	44	NM_001040456	0	0	149	211	62	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183661	0.78677	.	.	ENSG00000005486	ENST00000006777;ENST00000413229	T	0.12774	2.65	4.87	3.99	0.46301	.	0.000000	0.50627	D	0.000108	T	0.20981	0.0505	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.01935	-1.1244	10	0.59425	D	0.04	-9.2118	9.267	0.37647	0.0:0.9016:0.0:0.0984	.	29	Q6NTF9	RHBD2_HUMAN	M	29;74	ENSP00000006777:L29M	ENSP00000006777:L29M	L	+	1	2	RHBDD2	75346421	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.238000	0.32707	1.412000	0.46977	-0.140000	0.14226	CTG	.		0.697	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		A	75508485	C	A	75508485	3	1	9	1	0	0	0	0	1	0	0	0	13362	796	28	3	87	3	RHBDD2	7	75508485	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5253080	75508485	83630178	285	1872											
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	77764344	77764344	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcaggcactcaccctcctGaggaatgatgcgaagggtga	12	12	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:77764344G>T	ENST00000354212.4	-	17	3278	c.3025C>A	c.(3025-3027)Cag>Aag	p.Q1009K	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1009K|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q995K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1009	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCACCCTCCTGAGGAATGATG	0.582																																					p.Q1009K		.											.	MAGI2-461	0			c.C3025A						.						174	126	142					7																	77764344		2203	4300	6503	SO:0001583	missense	9863	exon17			CCTCCTGAGGAAT	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3025C>A	7.37:g.77764344G>T	ENSP00000346151:p.Gln1009Lys	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	189	45	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493476	0.64186	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10382	2.97;2.99;2.88	6.06	6.06	0.98353	PDZ/DHR/GLGF (3);	0.000000	0.35096	U	0.003458	T	0.09247	0.0228	N	0.05306	-0.075	0.80722	D	1	B;B;B	0.32653	0.176;0.26;0.379	B;B;B	0.38056	0.062;0.264;0.104	T	0.43278	-0.9401	10	0.37606	T	0.19	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1009;995;1009	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	995;1009;1009;1009	ENSP00000405766:Q995K;ENSP00000346151:Q1009K;ENSP00000428389:Q1009K	ENSP00000346151:Q1009K	Q	-	1	0	MAGI2	77602280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.322000	0.65852	2.882000	0.98803	0.655000	0.94253	CAG	.		0.582	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77764344	G	T	77764344	3	4	9	1	0	0	0	0	1	0	0	0	9229	1299	45	3	1366	3	MAGI2	7	77764344	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2255859	77764344	81374319	286	1873											
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	77814971	77814971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaatccattcgaaaactggtCctgggtggcacttgttctgg	12	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:77814971C>A	ENST00000354212.4	-	13	2539	c.2286G>T	c.(2284-2286)agG>agT	p.R762S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R762S|MAGI2_ENST00000419488.1_Intron	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	762					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAAACTGGTCCTGGGTGGCA	0.353																																					p.R762S		.											.	MAGI2-461	0			c.G2286T						.						113	112	112					7																	77814971		2203	4300	6503	SO:0001583	missense	9863	exon13			ACTGGTCCTGGGT	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2286G>T	7.37:g.77814971C>A	ENSP00000346151:p.Arg762Ser	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	177	18	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538397	0.45176	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.36520	1.25;1.25	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.000000	0.40728	U	0.001037	T	0.57227	0.2039	L	0.55481	1.735	0.80722	D	1	B;D	0.60160	0.267;0.987	B;D	0.66196	0.059;0.942	T	0.50065	-0.8871	10	0.48119	T	0.1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	762;762	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	S	762	ENSP00000346151:R762S;ENSP00000428389:R762S	ENSP00000346151:R762S	R	-	3	2	MAGI2	77652907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.850000	0.98022	0.650000	0.86243	AGG	.		0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	77814971	C	A	77814971	3	1	9	1	0	0	0	0	1	0	0	0	9229	854	30	3	2121	3	MAGI2	7	77814971	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	50627	77814971	81323692	287	1874											
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	86394717	86394717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaaagatgattacttgCtaccaggagtgaagttgggt	11	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:86394717C>A	ENST00000361669.2	+	2	1355	c.256C>A	c.(256-258)Cta>Ata	p.L86I	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L86I|GRM3_ENST00000394720.2_Missense_Mutation_p.L84I|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	86					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)					TGATTACTTGCTACCAGGAGT	0.428																																					p.L86I	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	0			c.C256A						.						192	174	180					7																	86394717		2203	4300	6503	SO:0001583	missense	2913	exon2			TACTTGCTACCAG		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.256C>A	7.37:g.86394717C>A	ENSP00000355316:p.Leu86Ile	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	153	17	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087907	0.76642	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.24	4.32	0.51571	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.91509	0.5225	10	0.87932	D	0	.	11.2117	0.48802	0.0:0.906:0.0:0.094	.	86;86	G5E9K2;Q14832	.;GRM3_HUMAN	I	86;86;84;86	ENSP00000355316:L86I;ENSP00000398767:L86I;ENSP00000378209:L84I;ENSP00000390037:L86I	ENSP00000355316:L86I	L	+	1	2	GRM3	86232653	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.951000	0.56684	1.378000	0.46305	0.655000	0.94253	CTA	.		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86394717	C	A	86394717	3	1	9	1	0	0	0	0	1	0	0	0	6825	796	28	3	258	3	GRM3	7	86394717	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8579746	86394717	72743946	288	1875											
ABCB4	5244	broad.mit.edu;bcgsc.ca	37	chr7	87069022	87069022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctcagcttcactttctgtGtccaatgctgacgtggcctc	8	14	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:87069022G>T	ENST00000265723.4	-	14	1803	c.1692C>A	c.(1690-1692)gaC>gaA	p.D564E	ABCB4_ENST00000358400.3_Missense_Mutation_p.D564E|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564E|ABCB4_ENST00000545634.1_Missense_Mutation_p.D564E|ABCB4_ENST00000453593.1_Missense_Mutation_p.D564E	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	564	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		D -> G (in PFIC3). {ECO:0000269|PubMed:11313315}.		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)	CACTTTCTGTGTCCAATGCTG	0.522																																					p.D564E		.											.	ABCB4-96	0			c.C1692A						.						150	132	138					7																	87069022		2203	4300	6503	SO:0001583	missense	5244	exon14			TTCTGTGTCCAAT	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.1692C>A	7.37:g.87069022G>T	ENSP00000265723:p.Asp564Glu	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	125	5	NM_018850	0	0	1	1	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908242	0.72868	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.55	4.48	0.54585	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.98407	4.225	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.963;0.938	D;D;P	0.79108	0.992;0.934;0.86	D	0.97810	1.0250	10	0.87932	D	0	-19.01	6.4396	0.21843	0.2621:0.0:0.7379:0.0	.	564;564;564	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	E	564	ENSP00000352135:D564E;ENSP00000351172:D564E;ENSP00000265723:D564E;ENSP00000392983:D564E;ENSP00000437465:D564E	ENSP00000265723:D564E	D	-	3	2	ABCB4	86906958	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	2.098000	0.41757	2.594000	0.87642	0.655000	0.94253	GAC	.		0.522	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87069022	G	T	87069022	3	4	9	1	0	0	0	0	1	0	0	0	43	1368	48	3	2228	3	ABCB4	7	87069022	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	674305	87069022	72069641	289	1876											
GTPBP10	85865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	90003657	90003657	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggaaagataatgtacagtGatttcaaacaggtaggtatt	10	3	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:90003657G>T	ENST00000222511.6	+	6	646	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	GTPBP10_ENST00000257659.8_Missense_Mutation_p.D115Y	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	194	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AATGTACAGTGATTTCAAACA	0.313																																					p.D194Y		.											.	GTPBP10-68	0			c.G580T						.						75	78	77					7																	90003657		2203	4292	6495	SO:0001583	missense	85865	exon6			TACAGTGATTTCA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.580G>T	7.37:g.90003657G>T	ENSP00000222511:p.Asp194Tyr	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	69	15	NM_033107	0	0	0	0	0	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699353	0.68501	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.22134	2.16;2.16;1.97;1.97;1.97	5.79	5.79	0.91817	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.83953	2.67	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;0.995;0.995;0.999	T	0.51949	-0.8640	9	.	.	.	-12.0059	18.2084	0.89863	0.0:0.0:1.0:0.0	.	115;194;185;211	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	Y	185;211;115;194;121	ENSP00000405697:D185Y;ENSP00000389510:D211Y;ENSP00000257659:D115Y;ENSP00000222511:D194Y;ENSP00000416596:D121Y	.	D	+	1	0	GTPBP10	89841593	1.000000	0.71417	0.962000	0.40283	0.573000	0.36030	8.355000	0.90083	2.733000	0.93635	0.655000	0.94253	GAT	.		0.313	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		T	90003657	G	T	90003657	3	4	9	1	0	0	0	0	1	0	0	0	6906	1290	45	3	602	3	GTPBP10	7	90003657	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2934635	90003657	69135006	290	1877											
KRIT1	889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	91864777	91864777	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaatacaggtatctgctttCtctagggctaacattttact	6	8	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:91864777C>A	ENST00000340022.2	-	8	1687	c.669G>T	c.(667-669)gaG>gaT	p.E223D	KRIT1_ENST00000394503.2_Missense_Mutation_p.E223D|KRIT1_ENST00000394507.1_Missense_Mutation_p.E223D|KRIT1_ENST00000394505.2_Missense_Mutation_p.E223D|KRIT1_ENST00000412043.2_Missense_Mutation_p.E223D	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	223					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGCTTTCTCTAGGGCTA	0.358																																					p.E223D		.											.	KRIT1-132	0			c.G669T						.						189	193	191					7																	91864777		2203	4300	6503	SO:0001583	missense	889	exon9			TGCTTTCTCTAGG	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.669G>T	7.37:g.91864777C>A	ENSP00000344668:p.Glu223Asp	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	99	13	NM_194456	0	0	6	8	2	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365697	0.61513	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;T;D	0.89617	0.68;0.68;0.68;0.68;-0.86;-2.54	5.21	1.98	0.26296	.	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	L	0.40543	1.245	0.53005	D	0.999962	D;P;D	0.58268	0.982;0.951;0.982	D;P;D	0.67548	0.952;0.525;0.952	D	0.85628	0.1268	10	0.30078	T	0.28	-5.0342	10.2575	0.43405	0.0:0.715:0.0:0.285	.	223;223;223	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	D	223	ENSP00000378015:E223D;ENSP00000344668:E223D;ENSP00000410909:E223D;ENSP00000378013:E223D;ENSP00000378011:E223D;ENSP00000391675:E223D	ENSP00000344668:E223D	E	-	3	2	KRIT1	91702713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	0.586000	0.29626	0.460000	0.39030	GAG	.		0.358	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			A	91864777	C	A	91864777	3	1	9	1	0	0	0	0	1	0	0	0	8472	912	32	3	1589	3	KRIT1	7	91864777	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1861120	91864777	67273886	291	1878											
PTCD1	26024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	99023158	99023158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggggtcccctaggcCacagtcccgagctgccacca	11	18	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:99023158C>A	ENST00000292478.4	-	6	1247	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C	PTCD1_ENST00000555673.1_Missense_Mutation_p.G382C|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G382C	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	333					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCCTAGGCCACAGTCCCGA	0.647																																					p.G382C		.											.	.	0			c.G1144T						.						22	24	23					7																	99023158		2202	4298	6500	SO:0001583	missense	100526740	exon7			CTAGGCCACAGTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.997G>T	7.37:g.99023158C>A	ENSP00000292478:p.Gly333Cys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	94	25	NM_001198879	0	0	4	5	1	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848530	0.71603	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.71341	-0.56;-0.5;-0.5	5.84	4.95	0.65309	.	0.091728	0.85682	D	0.000000	D	0.85199	0.5642	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.87294	0.2301	10	0.59425	D	0.04	-26.2041	14.8048	0.69945	0.0:0.9308:0.0:0.0692	.	382;333	G3V325;O75127	.;PTCD1_HUMAN	C	333;115;382;382	ENSP00000292478:G333C;ENSP00000450995:G382C;ENSP00000400168:G382C	ENSP00000400168:G382C	G	-	1	0	ATP5J2-PTCD1;PTCD1	98861094	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	4.971000	0.63749	1.468000	0.48064	0.561000	0.74099	GGC	.		0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99023158	C	A	99023158	3	1	9	1	0	0	0	0	1	0	0	0	12769	594	21	3	1117	3	PTCD1	7	99023158	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7158381	99023158	60115505	292	1879											
PVRIG	79037	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	99817600	99817600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactggagggggccatggggCaccggaccctggtcctgccc	17	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:99817600C>A	ENST00000317271.2	+	2	430	c.67C>A	c.(67-69)Cac>Aac	p.H23N	GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	23						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCATGGGGCACCGGACCCT	0.647																																					p.H23N		.											.	PVRIG-24	0			c.C67A						.						25	24	24					7																	99817600		2201	4297	6498	SO:0001583	missense	79037	exon2			ATGGGGCACCGGA	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.67C>A	7.37:g.99817600C>A	ENSP00000316675:p.His23Asn	Somatic	231	1		WXS	Illumina GAIIx	Phase_I	309	76	NM_024070	0	0	2	3	1	D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	c	7.083	0.570548	0.13560	.	.	ENSG00000213413	ENST00000317271	T	0.48836	0.8	2.36	0.208	0.15221	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.17653	-1.0362	9	0.51188	T	0.08	.	4.285	0.10850	0.2623:0.4805:0.2572:0.0	.	23	Q6DKI7	PVRIG_HUMAN	N	23	ENSP00000316675:H23N	ENSP00000316675:H23N	H	+	1	0	PVRIG	99655536	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.387000	0.07361	0.057000	0.16193	0.423000	0.28283	CAC	.		0.647	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		A	99817600	C	A	99817600	3	1	9	1	0	0	0	0	1	0	0	0	12883	710	25	3	69	3	PVRIG	7	99817600	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	794442	99817600	59321063	293	1880											
MUC17	140453	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100674469	100674469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggggacgtcttgaaccgtCagtgccagcagctgtctcag	13	11	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:100674469C>A	ENST00000306151.4	+	2	215	c.151C>A	c.(151-153)Cag>Aag	p.Q51K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	51					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)					CTTGAACCGTCAGTGCCAGCA	0.562																																					p.Q51K		.											.	MUC17-95	0			c.C151A						.						194	160	171					7																	100674469		2203	4300	6503	SO:0001583	missense	140453	exon2			AACCGTCAGTGCC	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.151C>A	7.37:g.100674469C>A	ENSP00000302716:p.Gln51Lys	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	265	72	NM_001040105	0	0	0	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.489	0.275178	0.10403	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.9	1.9	0.25705	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.53878	-0.8376	9	0.22109	T	0.4	.	7.3807	0.26854	0.0:1.0:0.0:0.0	.	51	Q685J3	MUC17_HUMAN	K	51	ENSP00000302716:Q51K	ENSP00000302716:Q51K	Q	+	1	0	MUC17	100461189	0.000000	0.05858	0.065000	0.19835	0.029000	0.11900	-0.033000	0.12246	1.385000	0.46445	0.502000	0.49764	CAG	.		0.562	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100674469	C	A	100674469	3	1	9	1	0	0	0	0	1	0	0	0	10012	827	29	3	157	3	MUC17	7	100674469	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	856869	100674469	58464194	294	1881											
MUC17	140453	ucsc.edu;bcgsc.ca	37	chr7	100681947	100681947	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgaggctagcacccAttccacaactcctgttgaca	7	14	1	2	rs139220229		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:100681947A>T	ENST00000306151.4	+	3	7314	c.7250A>T	c.(7249-7251)cAt>cTt	p.H2417L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2417	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)					GCTAGCACCCATTCCACAACT	0.507																																					p.H2417L		.											.	MUC17-95	0			c.A7250T						.						386	369	375					7																	100681947		2203	4300	6503	SO:0001583	missense	140453	exon3			GCACCCATTCCAC	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.7250A>T	7.37:g.100681947A>T	ENSP00000302716:p.His2417Leu	Somatic	182	3		WXS	Illumina GAIIx	Phase_I	251	84	NM_001040105	0	0	0	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	1.961	-0.438892	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.43	0.404	0.16355	.	.	.	.	.	T	0.00998	0.0033	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47774	-0.9091	9	0.11485	T	0.65	.	3.3547	0.07164	0.245:0.5788:0.0:0.1763	.	2417	Q685J3	MUC17_HUMAN	L	2417	ENSP00000302716:H2417L	ENSP00000302716:H2417L	H	+	2	0	MUC17	100468667	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.019000	0.13444	-0.658000	0.05366	-1.625000	0.00788	CAT	A|0.999;T|0.001		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100681947	A	T	100681947	3	4	9	1	0	0	0	0	1	0	0	0	10012	217	8	5	7260	5	MUC17	7	100681947	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	7478	100681947	58456716	295	1882											
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	103180836	103180836	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagagaatactgtaggagCacgggttgactcctggggtc	15	7	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:103180836C>A	ENST00000428762.1	-	44	6897	c.6738G>T	c.(6736-6738)gtG>gtT	p.V2246V	RELN_ENST00000343529.5_Silent_p.V2246V|RELN_ENST00000424685.2_Silent_p.V2246V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2246					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)		ACTGTAGGAGCACGGGTTGAC	0.488																																					p.V2246V	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.G6738T						.						113	109	110					7																	103180836		2203	4300	6503	SO:0001819	synonymous_variant	5649	exon44			TAGGAGCACGGGT		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.6738G>T	7.37:g.103180836C>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	107	37	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			.		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103180836	C	A	103180836	2	1	9	1	0	0	0	0	0	0	0	1	13265	697	25	3		3	RELN	7	103180836	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2498889	103180836	55957827	296	1883											
RELN	5649	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	103243894	103243894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cataattgtggacggaagggCagcttctgggtggcattcag	15	7	2	0	rs114389730	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:103243894C>G	ENST00000428762.1	-	24	3349	c.3190G>C	c.(3190-3192)Gcc>Ccc	p.A1064P	RELN_ENST00000343529.5_Missense_Mutation_p.A1064P|RELN_ENST00000424685.2_Missense_Mutation_p.A1064P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1064					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)		GACGGAAGGGCAGCTTCTGGG	0.517																																					p.A1064P	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.G3190C						.						96	92	93					7																	103243894		2203	4300	6503	SO:0001583	missense	5649	exon24			GAAGGGCAGCTTC		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.3190G>C	7.37:g.103243894C>G	ENSP00000392423:p.Ala1064Pro	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	137	43	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585463	0.03827	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	2.06;1.95;2.02	5.45	1.18	0.20946	.	0.277274	0.37012	N	0.002292	T	0.03608	0.0103	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32771	-0.9894	10	0.11794	T	0.64	.	0.6531	0.00830	0.2308:0.3108:0.1174:0.3409	.	1064;1064	P78509-2;P78509	.;RELN_HUMAN	P	1064	ENSP00000392423:A1064P;ENSP00000345694:A1064P;ENSP00000388446:A1064P	ENSP00000345694:A1064P	A	-	1	0	RELN	103031130	0.215000	0.23574	0.393000	0.26258	0.932000	0.56968	0.665000	0.25083	0.276000	0.22118	0.655000	0.94253	GCC	C|0.998;T|0.002		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103243894	C	G	103243894	3	3	9	1	0	0	0	0	1	0	0	0	13265	710	25	3	7360	3	RELN	7	103243894	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	63058	103243894	55894769	297	1884											
ZNF277	11179	ucsc.edu	37	chr7	111927088	111927088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacatgattattgagcataaGattgtcatagctgatgtcaa	8	6	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:111927088G>T	ENST00000361822.3	+	2	381	c.252G>T	c.(250-252)aaG>aaT	p.K84N	RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.K84N|ZNF277_ENST00000421043.1_Missense_Mutation_p.K84N	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	84					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTGAGCATAAGATTGTCATAG	0.378																																					p.K84N		.											.	ZNF277-155	0			c.G252T						.						171	167	168					7																	111927088		2203	4300	6503	SO:0001583	missense	11179	exon2			GCATAAGATTGTC	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.252G>T	7.37:g.111927088G>T	ENSP00000354501:p.Lys84Asn	Somatic	118	4		WXS	Illumina GAIIx	Phase_I	178	21	NM_021994	0	0	6	6	0	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734598	0.69189	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T;T	0.44083	0.93;0.93;0.93	5.87	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.983	T	0.61797	-0.6989	10	0.87932	D	0	-22.8303	9.695	0.40152	0.2107:0.0:0.7893:0.0	.	84;84	Q9NRM2;G5E9M4	ZN277_HUMAN;.	N	84	ENSP00000354501:K84N;ENSP00000390359:K84N;ENSP00000402292:K84N	ENSP00000354501:K84N	K	+	3	2	ZNF277	111714324	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	3.660000	0.54496	0.825000	0.34637	0.650000	0.86243	AAG	.		0.378	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		T	111927088	G	T	111927088	3	4	9	1	0	0	0	0	1	0	0	0	17860	933	33	3	258	3	ZNF277	7	111927088	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8683194	111927088	47211575	298	1885											
IFRD1	3475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	112090794	112090794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccgcggtagcagtgctggCggcggcgggtcaggagcagc	19	12	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:112090794C>A	ENST00000403825.3	+	1	312	c.51C>A	c.(49-51)ggC>ggA	p.G17G	IFRD1_ENST00000429071.1_Silent_p.G17G|IFRD1_ENST00000535603.1_5'Flank|IFRD1_ENST00000005558.4_Silent_p.G17G	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	17	Poly-Gly.				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						gcagtgctggcggcggcgggt	0.701																																					p.G17G		.											.	IFRD1-91	0			c.C51A						.						17	20	19					7																	112090794		2050	4051	6101	SO:0001819	synonymous_variant	3475	exon2			TGCTGGCGGCGGC	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.51C>A	7.37:g.112090794C>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	283	42	NM_001007245	0	0	8	13	5	B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	ENST00000403825.3	37	CCDS34736.1																																																																																			.		0.701	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		A	112090794	C	A	112090794	2	1	9	1	0	0	0	0	0	0	0	1	7580	755	27	2		2	IFRD1	7	112090794	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	163706	112090794	47047869	299	1886											
TFEC	22797	ucsc.edu;bcgsc.ca	37	chr7	115580883	115580883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatagtctactgaattctGctcaggatggctctgctgtt	10	9	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:115580883G>T	ENST00000265440.7	-	8	946	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.Q189K|TFEC_ENST00000320239.7_Missense_Mutation_p.Q227K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	256					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTGAATTCTGCTCAGGATGG	0.483																																					p.Q256K		.											.	TFEC-153	0			c.C766A						.						144	143	144					7																	115580883		2203	4300	6503	SO:0001583	missense	22797	exon8			AATTCTGCTCAGG	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.766C>A	7.37:g.115580883G>T	ENSP00000265440:p.Gln256Lys	Somatic	199	2		WXS	Illumina GAIIx	Phase_I	239	25	NM_012252	0	0	0	0	0	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239731	0.39598	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.63255	-0.03;-0.03;-0.03	4.89	2.8	0.32819	.	0.700136	0.14573	N	0.311345	T	0.37237	0.0996	N	0.12182	0.205	0.30377	N	0.782339	B;B	0.15141	0.012;0.003	B;B	0.13407	0.009;0.003	T	0.29971	-0.9994	10	0.09590	T	0.72	-2.365	7.8095	0.29221	0.0:0.4187:0.4504:0.1308	.	227;256	O14948-2;O14948	.;TFEC_HUMAN	K	256;189;227	ENSP00000265440:Q256K;ENSP00000387650:Q189K;ENSP00000318676:Q227K	ENSP00000265440:Q256K	Q	-	1	0	TFEC	115368119	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	4.081000	0.57627	1.119000	0.41883	0.650000	0.86243	CAG	.		0.483	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		T	115580883	G	T	115580883	3	4	9	1	0	0	0	0	1	0	0	0	15849	1328	46	3	281	3	TFEC	7	115580883	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3490089	115580883	43557780	300	1887											
IQUB	154865	bcgsc.ca	37	chr7	123109376	123109376	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctctctggctctgatggtGaactgcgtatccatctcaat	9	11	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:123109376G>T	ENST00000466202.1	-	9	2049	c.1473C>A	c.(1471-1473)ttC>ttA	p.F491L	IQUB_ENST00000324698.6_Missense_Mutation_p.F491L|IQUB_ENST00000434450.1_Missense_Mutation_p.F491L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	491					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTGATGGTGAACTGCGTAT	0.348																																					p.F491L		.											.	IQUB-156	0			c.C1473A						.						147	136	140					7																	123109376		2203	4300	6503	SO:0001583	missense	154865	exon9			GATGGTGAACTGC	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1473C>A	7.37:g.123109376G>T	ENSP00000417769:p.Phe491Leu	Somatic	99	4		WXS	Illumina GAIIx	Phase_I	114	42	NM_178827	0	0	0	0	0	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081402	0.76528	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.45668	1.9;1.9;0.89	5.61	1.31	0.21738	.	0.231325	0.45361	D	0.000363	T	0.46964	0.1420	M	0.65498	2.005	0.36305	D	0.857255	D;P	0.53151	0.958;0.932	P;B	0.51657	0.676;0.392	T	0.53995	-0.8359	10	0.20046	T	0.44	.	11.6559	0.51318	0.2791:0.0:0.7209:0.0	.	491;491	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	L	491	ENSP00000417769:F491L;ENSP00000324882:F491L;ENSP00000388498:F491L	ENSP00000324882:F491L	F	-	3	2	IQUB	122896612	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.816000	0.27267	0.347000	0.23924	0.637000	0.83480	TTC	.		0.348	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		T	123109376	G	T	123109376	3	4	9	1	0	0	0	0	1	0	0	0	7847	1281	45	3	922	3	IQUB	7	123109376	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7528493	123109376	36029287	301	1888											
POT1	25913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	124491967	124491967	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgattgacagataacatctGaatgctgattggctgtcaaa	9	7	2	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:124491967G>T	ENST00000357628.3	-	11	1506	c.908C>A	c.(907-909)tCa>tAa	p.S303*	POT1_ENST00000393329.1_Nonsense_Mutation_p.S172*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	303					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GATAACATCTGAATGCTGATT	0.294																																					p.S303X	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	.											.	POT1-227	0			c.C908A						.						68	65	66					7																	124491967		2203	4296	6499	SO:0001587	stop_gained	25913	exon11			ACATCTGAATGCT	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.908C>A	7.37:g.124491967G>T	ENSP00000350249:p.Ser303*	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	185	47	NM_015450	0	0	4	5	1	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Nonsense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	43	10.068834	0.99330	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	.	.	.	5.44	-0.0443	0.13855	.	1.084120	0.06989	N	0.821338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	4.6803	8.8245	0.35047	0.5177:0.0:0.4823:0.0	.	.	.	.	X	303;172;303;303;303;302	.	ENSP00000265391:S302X	S	-	2	0	POT1	124279203	0.001000	0.12720	0.000000	0.03702	0.477000	0.33069	0.440000	0.21592	0.020000	0.15106	0.585000	0.79938	TCA	.		0.294	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			T	124491967	G	T	124491967	4	4	9	1	0	0	0	0	0	1	0	0	12299	1294	45	3	1032	3	POT1	7	124491967	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1382591	124491967	34646696	302	1889											
GRM8	2918	broad.mit.edu;ucsc.edu	37	chr7	126410002	126410002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaggccaatgtatccaGggcagagatctttgtgcata	11	8	1	1	rs376815449		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:126410002G>T	ENST00000339582.2	-	7	2082	c.1274C>A	c.(1273-1275)cCt>cAt	p.P425H	GRM8_ENST00000358373.3_Missense_Mutation_p.P425H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.P425H|GRM8_ENST00000405249.1_Missense_Mutation_p.P425H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	425					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.P425H(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)				AATGTATCCAGGGCAGAGATC	0.418										HNSCC(24;0.065)																											p.P425H		.											.	GRM8-581	2	Substitution - Missense(2)	lung(2)	c.C1274A						.	G	HIS/PRO,HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	143	128	133		1274,1274	5.9	1	7		133	0,8600		0,0,4300	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	77,77	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	425/909,425/909	126410002	1,13005	2203	4300	6503	SO:0001583	missense	2918	exon6			TATCCAGGGCAGA		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.1274C>A	7.37:g.126410002G>T	ENSP00000344173:p.Pro425His	Somatic	140	2		WXS	Illumina GAIIx	Phase_I	138	22	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415205	0.62511	2.27E-4	0.0	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.254326	0.40640	N	0.001045	D	0.92090	0.7493	M	0.79123	2.44	0.42205	D	0.991783	P;B;B	0.48294	0.908;0.374;0.146	P;B;B	0.53490	0.727;0.105;0.142	D	0.92668	0.6147	10	0.87932	D	0	.	19.2147	0.93772	0.0:0.0:1.0:0.0	.	425;425;425	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	425	ENSP00000344173:P425H;ENSP00000409790:P425H;ENSP00000351142:P425H;ENSP00000385731:P425H	ENSP00000344173:P425H	P	-	2	0	GRM8	126197238	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.571000	0.60879	2.769000	0.95229	0.655000	0.94253	CCT	.		0.418	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126410002	G	T	126410002	3	4	9	1	0	0	0	0	1	0	0	0	6830	1000	35	3	1522	3	GRM8	7	126410002	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1918035	126410002	32728661	303	1890											
SND1	27044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	127631020	127631020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattgaatgccccagaggaGcccgaaacctcccaggcttg	11	14	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:127631020G>T	ENST00000354725.3	+	16	1884	c.1690G>T	c.(1690-1692)Gcc>Tcc	p.A564S	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	564	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCCAGAGGAGCCCGAAACCT	0.542																																					p.A564S		.											.	SND1-92	0			c.G1690T						.						73	63	66					7																	127631020		2203	4300	6503	SO:0001583	missense	27044	exon16			AGAGGAGCCCGAA		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.1690G>T	7.37:g.127631020G>T	ENSP00000346762:p.Ala564Ser	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	109	33	NM_014390	0	0	64	94	30	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	6.773	0.511507	0.12944	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.28666	1.6;1.6	5.54	5.54	0.83059	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.501198	0.24534	N	0.037698	T	0.14700	0.0355	N	0.05280	-0.08	0.45216	D	0.998221	B	0.02656	0.0	B	0.08055	0.003	T	0.15867	-1.0422	10	0.12430	T	0.62	-8.4123	12.292	0.54823	0.0:0.0:0.8306:0.1694	.	564	Q7KZF4	SND1_HUMAN	S	564;554;113	ENSP00000346762:A564S;ENSP00000419327:A113S	ENSP00000346762:A564S	A	+	1	0	SND1	127418256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.301000	0.51842	2.754000	0.94517	0.655000	0.94253	GCC	.		0.542	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		T	127631020	G	T	127631020	3	4	9	1	0	0	0	0	1	0	0	0	14889	971	34	3	1752	3	SND1	7	127631020	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1221018	127631020	31507643	304	1891											
PLXNA4	91584	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	131872275	131872275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaacatcaccaccacgttgCttccggcattcaggttggtg	9	13	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:131872275C>A	ENST00000359827.3	-	15	3910	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S983I			Q9HCM2	PLXA4_HUMAN	plexin A4	983	IPT/TIG 2.				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						CACCACGTTGCTTCCGGCATT	0.562																																					p.S983I		.											.	PLXNA4-91	0			c.G2948T						.						208	224	218					7																	131872275		2108	4247	6355	SO:0001583	missense	91584	exon15			ACGTTGCTTCCGG	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.2948G>T	7.37:g.131872275C>A	ENSP00000352882:p.Ser983Ile	Somatic	91	2		WXS	Illumina GAIIx	Phase_I	116	26	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237003	0.95240	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78003	-1.14;-1.14	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88872	0.6555	M	0.82823	2.61	0.80722	D	1	D	0.54207	0.965	D	0.63877	0.919	D	0.89933	0.4067	10	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	983	Q9HCM2	PLXA4_HUMAN	I	983	ENSP00000323194:S983I;ENSP00000352882:S983I	ENSP00000323194:S983I	S	-	2	0	PLXNA4	131522815	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.461000	0.80834	2.615000	0.88500	0.555000	0.69702	AGC	.		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131872275	C	A	131872275	3	1	9	1	0	0	0	0	1	0	0	0	12161	797	28	3	2808	3	PLXNA4	7	131872275	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4241255	131872275	27266388	305	1892											
PARP12	64761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139727101	139727101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagacttcccagagggccaGgttctgtactcgctcaatct	10	12	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:139727101G>T	ENST00000263549.3	-	10	2476	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	535	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAGAGGGCCAGGTTCTGTACT	0.552																																					p.L535M		.											.	PARP12-525	0			c.C1603A						.						94	84	87					7																	139727101		2203	4300	6503	SO:0001583	missense	64761	exon10			GGGCCAGGTTCTG	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1603C>A	7.37:g.139727101G>T	ENSP00000263549:p.Leu535Met	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	184	46	NM_022750	0	0	10	17	7	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388550	0.42308	.	.	ENSG00000059378	ENST00000263549	T	0.13901	2.55	5.6	1.52	0.23074	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.195477	0.44902	N	0.000420	T	0.09905	0.0243	L	0.35542	1.07	0.26952	N	0.966005	B	0.21225	0.053	B	0.28991	0.097	T	0.28554	-1.0040	10	0.28530	T	0.3	.	6.8883	0.24214	0.0651:0.2351:0.5782:0.1216	.	535	Q9H0J9	PAR12_HUMAN	M	535	ENSP00000263549:L535M	ENSP00000263549:L535M	L	-	1	2	PARP12	139373570	0.944000	0.32072	1.000000	0.80357	0.996000	0.88848	1.020000	0.30027	0.304000	0.22809	0.655000	0.94253	CTG	.		0.552	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139727101	G	T	139727101	3	4	9	1	0	0	0	0	1	0	0	0	11496	991	35	3	514	3	PARP12	7	139727101	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7854826	139727101	19411562	306	1893											
TAS2R4	50832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	141478815	141478815	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatcagtgagggcatcttgtCtttagtggtttctttggtct	11	6	5	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:141478815C>A	ENST00000247881.2	+	1	574	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGCATCTTGTCTTTAGTGGTT	0.418																																					p.S176Y		.											.	TAS2R4-90	0			c.C527A						.						253	249	251					7																	141478815		2203	4300	6503	SO:0001583	missense	50832	exon1			TCTTGTCTTTAGT	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.527C>A	7.37:g.141478815C>A	ENSP00000247881:p.Ser176Tyr	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	202	23	NM_016944	0	0	0	0	0	Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	c	6.424	0.446380	0.12223	.	.	ENSG00000127364	ENST00000247881	T	0.28895	1.59	5.31	0.00804	0.14073	.	0.838765	0.10689	N	0.645469	T	0.37237	0.0996	M	0.76574	2.34	0.09310	N	1	B	0.29270	0.24	B	0.40702	0.338	T	0.50294	-0.8845	10	0.72032	D	0.01	.	4.1362	0.10172	0.0:0.4432:0.1694:0.3873	.	176	Q9NYW5	TA2R4_HUMAN	Y	176	ENSP00000247881:S176Y	ENSP00000247881:S176Y	S	+	2	0	TAS2R4	141125284	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.629000	0.02029	0.101000	0.17610	0.632000	0.83419	TCT	.		0.418	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			A	141478815	C	A	141478815	3	1	9	1	0	0	0	0	1	0	0	0	15624	913	32	3	529	3	TAS2R4	7	141478815	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1751714	141478815	17659848	307	1894											
EPHA1	2041	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	143098540	143098540	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaactcttgcagtcccgCacggtgaactgcagctccac	11	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:143098540C>A	ENST00000275815.3	-	3	395	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGCAGTCCCGCACGGTGAACT	0.607																																					p.V103V		.											.	EPHA1-1436	0			c.G309T						.						118	121	120					7																	143098540		2203	4300	6503	SO:0001819	synonymous_variant	2041	exon3			GTCCCGCACGGTG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.309G>T	7.37:g.143098540C>A		Somatic	134	1		WXS	Illumina GAIIx	Phase_I	170	20	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																			.		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143098540	C	A	143098540	2	1	9	1	0	0	0	0	0	0	0	1	5181	697	25	3		3	EPHA1	7	143098540	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1619725	143098540	16040123	308	1895											
ZNF212	7988	hgsc.bcm.edu	37	chr7	148936892	148936892	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggagtcggcgcctgctcGggtaaagaggcaccggcgcg	19	12	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:148936892G>T	ENST00000335870.2	+	1	151	c.23G>T	c.(22-24)cGg>cTg	p.R8L		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GCGCCTGCTCGGGTAAAGAGG	0.746																																					p.R8L		.											.	ZNF212-91	0			c.G23T						.						8	11	10					7																	148936892		2115	4164	6279	SO:0001630	splice_region_variant	7988	exon1			CTGCTCGGGTAAA	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.24+1G>T	7.37:g.148936892G>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	56	18	NM_012256	0	0	0	0	0	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848454	0.51164	.	.	ENSG00000170260	ENST00000335870	T	0.07444	3.19	4.51	3.56	0.40772	.	0.637157	0.13256	N	0.401662	T	0.04318	0.0119	N	0.14661	0.345	0.37411	D	0.913224	P	0.43024	0.798	B	0.34489	0.184	T	0.50651	-0.8803	10	0.23891	T	0.37	-8.0589	9.9499	0.41631	0.0:0.2065:0.7935:0.0	.	8	Q9UDV6	ZN212_HUMAN	L	8	ENSP00000338572:R8L	ENSP00000338572:R8L	R	+	2	0	ZNF212	148567825	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.826000	0.39092	2.484000	0.83849	0.655000	0.94253	CGG	.		0.746	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	Missense_Mutation	T	148936892	G	T	148936892	5	4	9	1	0	0	0	0	0	0	1	0	17816	1130	39	2	25	2	ZNF212	7	148936892	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5838352	148936892	10201771	309	1896											
SSPO	23145	hgsc.bcm.edu;broad.mit.edu	37	chr7	149499235	149499235	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcctcctctgccagggGgcagctgcccgcgtgaccgg	16	16	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:149499235G>T	ENST00000378016.2	+	0	7603							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)			TCTGCCAGGGGGCAGCTGCCC	0.692																																					p.G2535C		.											.	.	0			c.G7603T						.						4	6	5					7																	149499235		1777	3756	5533			23145	exon51			CCAGGGGGCAGCT	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.149499235G>T		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	68	5	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149499235	G	T	149499235	1	4	9	0	1	0	0	0	0	0	0	0	15236	1232	43	3		3	SSPO	7	149499235	RNA	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	562343	149499235	9639428	310	1897											
SSPO	23145	broad.mit.edu;bcgsc.ca	37	chr7	149503951	149503951	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggcttctgcgcccccggCtgcacctgcccccctggtct	11	20	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:149503951C>A	ENST00000378016.2	+	0	8775							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)			GCGCCCCCGGCTGCACCTGCC	0.657																																					p.G2925G		.											.	.	0			c.C8775A						.						22	31	28					7																	149503951		1916	4112	6028			23145	exon60			CCCCGGCTGCACC	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.149503951C>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	116	35	NM_198455	0	0	0	0	0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				.		0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149503951	C	A	149503951	1	1	9	0	1	0	0	0	0	0	0	0	15236	796	28	3		3	SSPO	7	149503951	RNA	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4716	149503951	9634712	311	1898											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	151879463	151879463	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggctgttttgtaaacagttCtttatggaatgactgtgcag	11	5	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr7:151879463C>A	ENST00000262189.6	-	36	5700	c.5482G>T	c.(5482-5484)Gaa>Taa	p.E1828*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1828*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1828					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)										GTAAACAGTTCTTTATGGAAT	0.498																																					p.E1828X		.											.	MLL3-1398	0			c.G5482T						.						228	218	221					7																	151879463		2203	4300	6503	SO:0001587	stop_gained	58508	exon36			ACAGTTCTTTATG	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.5482G>T	7.37:g.151879463C>A	ENSP00000262189:p.Glu1828*	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	158	41	NM_170606	0	0	1	2	1	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	47	13.007691	0.99713	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.09	5.09	0.68999	.	0.286203	0.23680	N	0.045622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.4934	0.87711	0.0:1.0:0.0:0.0	.	.	.	.	X	1828	.	ENSP00000262189:E1828X	E	-	1	0	MLL3	151510396	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.186000	0.77722	2.366000	0.80165	0.563000	0.77884	GAA	.		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151879463	C	A	151879463	4	1	9	1	0	0	0	0	0	1	0	0	9660	922	32	3	9349	3	MLL3	7	151879463	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2375512	151879463	7259200	312	1899											
EFHA2	286097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	16944544	16944544	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaagcgtgcaatgctGgtaagaatactttatagtag	11	4	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:16944544G>T	ENST00000318063.5	+	7	891	c.849G>T	c.(847-849)ctG>ctT	p.L283L		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	283						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GTGCAATGCTGGTAAGAATAC	0.299																																					p.L283L		.											.	EFHA2-91	0			c.G849T						.						94	103	100					8																	16944544		2203	4299	6502	SO:0001630	splice_region_variant	286097	exon7			AATGCTGGTAAGA	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.849+1G>T	8.37:g.16944544G>T		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	28	5	NM_181723	0	0	0	0	0	Q8IYZ3	Silent	SNP	ENST00000318063.5	37	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118678	0.37436	.	.	ENSG00000155970	ENST00000519044	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74520	0.3727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72497	-0.4275	4	.	.	.	-4.5832	18.228	0.89924	0.0:0.0:1.0:0.0	.	.	.	.	L	141	.	.	W	+	2	0	EFHA2	16988915	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.646000	0.74348	2.733000	0.93635	0.585000	0.79938	TGG	.		0.299	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	Silent	T	16944544	G	T	16944544	5	4	9	1	0	0	0	0	0	0	1	0	4958	1362	47	3	875	3	EFHA2	8	16944544	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		16944544	129419478	313	1900											
BMP1	649	broad.mit.edu;bcgsc.ca	37	chr8	22064484	22064484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcacccccgggcaccGggtcaagctggtaaggggtc	14	15	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:22064484G>T	ENST00000306385.5	+	17	3021	c.2351G>T	c.(2350-2352)cGg>cTg	p.R784L	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	784	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCGGGCACCGGGTCAAGCTG	0.647																																					p.R784L		.											.	BMP1-155	0			c.G2351T						.						54	44	47					8																	22064484		2203	4300	6503	SO:0001583	missense	649	exon17			GGCACCGGGTCAA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2351G>T	8.37:g.22064484G>T	ENSP00000305714:p.Arg784Leu	Somatic	356	0		WXS	Illumina GAIIx	Phase_I	242	9	NM_006129	0	0	0	0	0	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888110	0.91814	.	.	ENSG00000168487	ENST00000306385	T	0.18960	2.18	4.19	4.19	0.49359	CUB (5);	0.000000	0.35870	U	0.002934	T	0.47619	0.1455	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49952	-0.8884	10	0.40728	T	0.16	.	15.4614	0.75359	0.0:0.0:1.0:0.0	.	784	P13497	BMP1_HUMAN	L	784	ENSP00000305714:R784L	ENSP00000305714:R784L	R	+	2	0	BMP1	22120429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.640000	0.98453	2.156000	0.67533	0.462000	0.41574	CGG	.		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22064484	G	T	22064484	3	4	9	1	0	0	0	0	1	0	0	0	1458	1116	39	2	2507	2	BMP1	8	22064484	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5119940	22064484	124299538	314	1901											
ENTPD4	9583	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	23294562	23294562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgttctggaagtgaattGggggctggtagaccccattg	14	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:23294562G>T	ENST00000358689.4	-	10	1494	c.1259C>A	c.(1258-1260)cCa>cAa	p.P420Q	ENTPD4_ENST00000417069.2_Missense_Mutation_p.P412Q|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000356206.6_Missense_Mutation_p.P412Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	420					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GAAGTGAATTGGGGGCTGGTA	0.478																																					p.P420Q		.											.	ENTPD4-92	0			c.C1259A						.						127	132	131					8																	23294562		2203	4300	6503	SO:0001583	missense	9583	exon10			TGAATTGGGGGCT	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1259C>A	8.37:g.23294562G>T	ENSP00000351520:p.Pro420Gln	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	116	33	NM_004901	0	0	6	10	4	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056792	0.93793	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.59	5.59	0.84812	.	0.097077	0.64402	D	0.000001	T	0.25938	0.0632	L	0.56280	1.765	0.54753	D	0.999989	D;P;P	0.53619	0.961;0.831;0.933	P;P;P	0.57009	0.811;0.602;0.723	T	0.00103	-1.2061	10	0.66056	D	0.02	-13.5325	18.1443	0.89651	0.0:0.0:1.0:0.0	.	412;412;420	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	Q	15;412;420;412	ENSP00000430579:P15Q;ENSP00000348536:P412Q;ENSP00000351520:P420Q;ENSP00000408573:P412Q	ENSP00000348536:P412Q	P	-	2	0	ENTPD4	23350507	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.869000	0.99810	2.631000	0.89168	0.462000	0.41574	CCA	.		0.478	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		T	23294562	G	T	23294562	3	4	9	1	0	0	0	0	1	0	0	0	5157	1348	47	3	607	3	ENTPD4	8	23294562	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1230078	23294562	123069460	315	1902											
NEFM	4741	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	24774959	24774959	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggggaaaaggaggaagaaGaaggccaggaagaagaggag	19	2	0	4	rs138461187	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:24774959G>T	ENST00000221166.5	+	3	2373	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E155*|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E531*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E531*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	531	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)		ggaggaagaagaaggccagga	0.493																																					p.E531X		.											.	NEFM-577	0			c.G1591T						.						33	37	36					8																	24774959		2187	4268	6455	SO:0001587	stop_gained	4741	exon3			GAAGAAGAAGGCC	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.1591G>T	8.37:g.24774959G>T	ENSP00000221166:p.Glu531*	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	63	11	NM_005382	0	0	10	11	1	B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932470	0.73442	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.19	3.29	0.37713	.	0.000000	0.41194	D	0.000933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	11.3184	0.49405	0.0924:0.0:0.9076:0.0	.	.	.	.	X	531;531;531;155	.	ENSP00000221166:E531X	E	+	1	0	NEFM	24830864	0.721000	0.28007	0.998000	0.56505	0.088000	0.18126	1.311000	0.33562	2.032000	0.59987	0.313000	0.20887	GAA	G|0.999;A|0.001		0.493	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		T	24774959	G	T	24774959	4	4	9	1	0	0	0	0	0	1	0	0	10355	943	33	3	1601	3	NEFM	8	24774959	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1480397	24774959	121589063	316	1903											
PRKDC	5591	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	48790325	48790325	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actggattgaaataattcttCcatgacatgctgctgttccc	7	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:48790325C>A	ENST00000314191.2	-	41	5376	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1774*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1775					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)	AATAATTCTTCCATGACATGC	0.398								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			.						.						128	125	126					8																	48790325		1879	4103	5982	SO:0001587	stop_gained	5591	.			ATTCTTCCATGAC		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.5320G>T	8.37:g.48790325C>A	ENSP00000313420:p.Glu1774*	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	79	39	.	0	0	0	2	2	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	45	11.660641	0.99588	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	.	.	.	X	1774	.	ENSP00000313420:E1774X	E	-	1	0	PRKDC	48952878	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.900000	0.75687	2.664000	0.90586	0.585000	0.79938	GAA	.		0.398	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48790325	C	A	48790325	4	1	9	1	0	0	0	0	0	1	0	0	12563	864	30	3	7251	3	PRKDC	8	48790325	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	24015366	48790325	97573697	317	1904											
PCMTD1	115294	bcgsc.ca	37	chr8	52733102	52733102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctagaggctgaggaataaGctgattacccacaaatacgt	10	8	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:52733102G>A	ENST00000360540.5	-	7	1289	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F	PCMTD1_ENST00000522514.1_Missense_Mutation_p.L295F|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.L219F	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	295						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.L295F(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATAAGCTGATTACCC	0.418																																					p.L295F		.											.	PCMTD1-68	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C883T						.						178	172	174					8																	52733102		2203	4300	6503	SO:0001583	missense	115294	exon6			GAATAAGCTGATT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.883C>T	8.37:g.52733102G>A	ENSP00000353739:p.Leu295Phe	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	172	7	NM_052937	0	0	5	5	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025780	0.75390	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.49720	0.77;0.77;0.77	5.97	5.1	0.69264	.	0.063724	0.64402	N	0.000004	T	0.64800	0.2631	L	0.57536	1.79	0.80722	D	1	D;B;P	0.76494	0.999;0.412;0.954	D;B;P	0.85130	0.997;0.148;0.649	T	0.65459	-0.6163	10	0.46703	T	0.11	-65.0248	14.9395	0.70983	0.0681:0.0:0.9319:0.0	.	165;219;295	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	F	295;219;295	ENSP00000353739:L295F;ENSP00000444026:L219F;ENSP00000428099:L295F	ENSP00000353739:L295F	L	-	1	0	PCMTD1	52895655	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.107000	0.77047	1.532000	0.49169	0.655000	0.94253	CTT	.		0.418	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52733102	G	A	52733102	3	1	9	1	0	0	0	0	1	0	0	0	11625	971	34	3	194	3	PCMTD1	8	52733102	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3942777	52733102	93630920	318	1905											
PCMTD1	115294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	52744112	52744112	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtgttctgtccagttcGcataatctgtgttaactatt	7	9	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:52744112G>T	ENST00000360540.5	-	6	1004	c.598C>A	c.(598-600)Cga>Aga	p.R200R	PCMTD1_ENST00000522514.1_Silent_p.R200R|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.R124R	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	200						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGTCCAGTTCGCATAATCTGT	0.353																																					p.R200R		.											.	PCMTD1-68	0			c.C598A						.						115	102	107					8																	52744112		2203	4300	6503	SO:0001819	synonymous_variant	115294	exon5			CAGTTCGCATAAT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.598C>A	8.37:g.52744112G>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	38	7	NM_052937	0	0	7	7	0	Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101047	0.20552	.	.	ENSG00000168300	ENST00000519554	.	.	.	5.45	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0532	5.8156	0.18490	0.1596:0.0:0.3911:0.4493	.	.	.	.	X	91	.	.	C	-	3	2	PCMTD1	52906665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.453000	0.44970	0.645000	0.30675	0.557000	0.71058	TGC	.		0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52744112	G	T	52744112	2	4	9	1	0	0	0	0	0	0	0	1	11625	1095	38	2		2	PCMTD1	8	52744112	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	11010	52744112	93619910	319	1906											
SLCO5A1	81796	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	70591644	70591644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgatagctgatggttgggCacatgctgtgatgaaggtga	15	4	0	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:70591644C>A	ENST00000260126.4	-	8	2699	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A665S|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A610S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	665						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)			GATGGTTGGGCACATGCTGTG	0.428																																					p.A665S		.											.	SLCO5A1-94	0			c.G1993T						.						211	209	210					8																	70591644		2203	4300	6503	SO:0001583	missense	81796	exon7			GTTGGGCACATGC	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.1993G>T	8.37:g.70591644C>A	ENSP00000260126:p.Ala665Ser	Somatic	207	1		WXS	Illumina GAIIx	Phase_I	185	78	NM_001146008	0	0	0	0	0	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781914	0.49891	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.81247	-1.47;1.2;-1.47	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057427	0.64402	D	0.000002	D	0.83335	0.5232	N	0.21240	0.645	0.58432	D	0.999999	P;D;D	0.89917	0.711;0.975;1.0	P;P;D	0.85130	0.634;0.851;0.997	T	0.80487	-0.1361	10	0.22706	T	0.39	.	19.311	0.94187	0.0:1.0:0.0:0.0	.	610;665;665	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	665;665;610	ENSP00000260126:A665S;ENSP00000434422:A665S;ENSP00000431611:A610S	ENSP00000260126:A665S	A	-	1	0	SLCO5A1	70754198	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.762000	0.85270	2.550000	0.86006	0.655000	0.94253	GCC	.		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		A	70591644	C	A	70591644	3	1	9	1	0	0	0	0	1	0	0	0	14776	710	25	3	565	3	SLCO5A1	8	70591644	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	17847532	70591644	75772378	320	1907											
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	72973992	72973992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgaatggctgtgcaccttCccttctgtaaagggttttaa	9	8	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:72973992C>A	ENST00000262209.4	-	7	1019	c.812G>T	c.(811-813)gGa>gTa	p.G271V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	271					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTGCACCTTCCCTTCTGTAA	0.383																																					p.G271V		.											.	TRPA1-230	0			c.G812T						.						126	105	112					8																	72973992		2203	4300	6503	SO:0001583	missense	8989	exon7			CACCTTCCCTTCT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.812G>T	8.37:g.72973992C>A	ENSP00000262209:p.Gly271Val	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	93	7	NM_007332	0	0	0	0	0	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016871	0.35606	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64618	-0.11;-0.11	4.94	2.02	0.26589	Ankyrin repeat-containing domain (4);	0.323024	0.37053	N	0.002263	T	0.45816	0.1361	L	0.31476	0.935	0.58432	D	0.999998	P	0.44139	0.827	B	0.40940	0.344	T	0.33599	-0.9862	10	0.59425	D	0.04	-4.1648	6.4541	0.21920	0.0:0.2873:0.5606:0.1521	.	271	O75762	TRPA1_HUMAN	V	123;271	ENSP00000428151:G123V;ENSP00000262209:G271V	ENSP00000262209:G271V	G	-	2	0	TRPA1	73136546	1.000000	0.71417	0.399000	0.26333	0.320000	0.28249	2.653000	0.46691	0.231000	0.21079	0.655000	0.94253	GGA	.		0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		A	72973992	C	A	72973992	3	1	9	1	0	0	0	0	1	0	0	0	16625	855	30	3	2631	3	TRPA1	8	72973992	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2382348	72973992	73390030	321	1908											
PI15	51050	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	75737605	75737605	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaataatttcactgatattGaagcagctctgaaagcacaa	6	9	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:75737605G>C	ENST00000260113.2	+	2	300	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q	PI15_ENST00000523773.1_Missense_Mutation_p.E41Q|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	41						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)			CACTGATATTGAAGCAGCTCT	0.473																																					p.E41Q		.											.	PI15-515	0			c.G121C						.						122	116	118					8																	75737605		2203	4300	6503	SO:0001583	missense	51050	exon2			GATATTGAAGCAG	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.121G>C	8.37:g.75737605G>C	ENSP00000260113:p.Glu41Gln	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	109	18	NM_015886	0	0	0	0	0	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854164	0.32791	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08720	3.06;3.06	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000009	T	0.09202	0.0227	L	0.53249	1.67	0.36480	D	0.867798	B	0.20052	0.041	B	0.17098	0.017	T	0.11203	-1.0597	10	0.25106	T	0.35	.	10.3286	0.43809	0.1517:0.0:0.8483:0.0	.	41	O43692	PI15_HUMAN	Q	41	ENSP00000260113:E41Q;ENSP00000428567:E41Q	ENSP00000260113:E41Q	E	+	1	0	PI15	75900160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.202000	0.65169	2.721000	0.93114	0.655000	0.94253	GAA	.		0.473	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		C	75737605	G	C	75737605	3	2	9	1	0	0	0	0	1	0	0	0	11907	1291	45	3	123	3	PI15	8	75737605	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2763613	75737605	70626417	322	1909											
SLC10A5	347051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	82607084	82607084	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaacttacaaggatggtttCttcagtctttgtgaaaaata	8	5	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:82607084C>A	ENST00000518568.1	-	1	1325	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	42						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGGATGGTTTCTTCAGTCTTT	0.353																																					p.E42X		.											.	SLC10A5-90	0			c.G124T						.						103	99	100					8																	82607084		2203	4299	6502	SO:0001587	stop_gained	347051	exon1			TGGTTTCTTCAGT		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.124G>T	8.37:g.82607084C>A	ENSP00000428612:p.Glu42*	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	69	50	NM_001010893	0	0	0	0	0	B2RN26	Nonsense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	46	12.434313	0.99667	.	.	ENSG00000253598	ENST00000518568	.	.	.	6.07	6.07	0.98685	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.9905	16.1594	0.81686	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000428612:E42X	E	-	1	0	SLC10A5	82769639	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	3.549000	0.53681	2.885000	0.99019	0.655000	0.94253	GAA	.		0.353	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		A	82607084	C	A	82607084	4	1	9	1	0	0	0	0	0	1	0	0	14422	922	32	3	1194	3	SLC10A5	8	82607084	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6869479	82607084	63756938	323	1910											
FAM82B	51115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	87519275	87519275	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agagataacctggtaagtttCaaaacccaaatacgacaaag	7	8	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:87519275C>A	ENST00000406452.3	-	2	355	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	RMDN1_ENST00000519966.1_Nonsense_Mutation_p.E66*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.E22*|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000430676.2_Nonsense_Mutation_p.E66*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	66						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TGGTAAGTTTCAAAACCCAAA	0.378																																					p.E66X		.											.	.	0			c.G196T						.						123	134	130					8																	87519275		2203	4300	6503	SO:0001587	stop_gained	51115	exon2			AAGTTTCAAAACC	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.196G>T	8.37:g.87519275C>A	ENSP00000385927:p.Glu66*	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	78	34	NM_016033	0	0	7	7	0	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.076608|6.076608	0.97262|0.97262	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045|ENST00000519789	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.253529|.	0.40385|.	N|.	0.001103|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.27785|.	T|.	0.31|.	-21.2953|-21.2953	12.3736|12.3736	0.55267|0.55267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	66;22;66;66;22|11	.|.	ENSP00000385927:E66X|.	E|X	-|-	1|2	0|2	FAM82B|FAM82B	87588391|87588391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.672000|3.672000	0.54583|0.54583	2.280000|2.280000	0.76307|0.76307	0.655000|0.655000	0.94253|0.94253	GAA|TGA	.		0.378	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		A	87519275	C	A	87519275	4	1	9	1	0	0	0	0	0	1	0	0	5654	835	29	3	784	3	FAM82B	8	87519275	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4912191	87519275	58844747	324	1911											
KIAA1429	25962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	95538629	95538629	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcacttatatttgaggattCcaaaagatccatatccatag	5	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:95538629C>A	ENST00000297591.5	-	8	1918	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E615*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E615*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	615					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)			TTTGAGGATTCCAAAAGATCC	0.388																																					p.E615X		.											.	KIAA1429-92	0			c.G1843T						.						139	133	135					8																	95538629		2203	4300	6503	SO:0001587	stop_gained	25962	exon8			AGGATTCCAAAAG	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.1843G>T	8.37:g.95538629C>A	ENSP00000297591:p.Glu615*	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	59	8	NM_015496	0	0	1	3	2	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592799	0.98378	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.95	5.95	0.96441	.	0.183972	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.4778	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	X	615	.	ENSP00000297591:E615X	E	-	1	0	KIAA1429	95607805	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.470000	0.60175	2.817000	0.96982	0.563000	0.77884	GAA	.		0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		A	95538629	C	A	95538629	4	1	9	1	0	0	0	0	0	1	0	0	8258	864	30	3	3717	3	KIAA1429	8	95538629	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8019354	95538629	50825393	325	1912											
GDF6	392255	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	97157039	97157039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgtactccaggggcgCgataatccagtcgtcccagc	12	15	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:97157039C>T	ENST00000287020.5	-	2	1219	c.1120G>A	c.(1120-1122)Gcg>Acg	p.A374T		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	374					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TCCAGGGGCGCGATAATCCAG	0.622																																					p.A374T		.											.	GDF6-228	0			c.G1120A						.						104	87	93					8																	97157039		2203	4300	6503	SO:0001583	missense	392255	exon2			GGGGCGCGATAAT		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1120G>A	8.37:g.97157039C>T	ENSP00000287020:p.Ala374Thr	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	159	10	NM_001001557	0	0	0	0	0	Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.092179|5.092179	0.94149|0.94149	.|.	.|.	ENSG00000156466|ENSG00000156466	ENST00000435084|ENST00000287020	.|D	.|0.84730	.|-1.89	4.72|4.72	4.72|4.72	0.59763|0.59763	.|Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95050	.|0.8397	H|H	0.96604|0.96604	3.85|3.85	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|D	.|0.96708	.|0.9523	.|10	.|0.87932	.|D	.|0	.|.	16.6379|16.6379	0.85064|0.85064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|374	.|Q6KF10	.|GDF6_HUMAN	.|T	-1|374	.|ENSP00000287020:A374T	.|ENSP00000287020:A374T	.|A	-|-	.|1	.|0	GDF6|GDF6	97226215|97226215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.597000|7.597000	0.82733|0.82733	2.441000|2.441000	0.82636|0.82636	0.557000|0.557000	0.71058|0.71058	.|GCG	.		0.622	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		T	97157039	C	T	97157039	3	4	9	1	0	0	0	0	1	0	0	0	6343	768	27	1	251	1	GDF6	8	97157039	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1618410	97157039	49206983	326	1913											
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	100733234	100733234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taccttttaacaccacagagGatccagatattagcacagca	6	11	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:100733234G>T	ENST00000358544.2	+	39	7195	c.7084G>T	c.(7084-7086)Gat>Tat	p.D2362Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2337Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2362					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCACAGAGGATCCAGATAT	0.408																																					p.D2362Y	Colon(161;2205 2542 7338 31318)	.											.	VPS13B-301	0			c.G7084T						.						124	115	118					8																	100733234		2203	4300	6503	SO:0001583	missense	157680	exon39			ACAGAGGATCCAG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7084G>T	8.37:g.100733234G>T	ENSP00000351346:p.Asp2362Tyr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	84	35	NM_017890	0	0	2	2	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908439	0.92107	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72725	-0.68;-0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83267	-0.0045	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2337;2362	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2337;2362	ENSP00000349685:D2337Y;ENSP00000351346:D2362Y	ENSP00000349685:D2337Y	D	+	1	0	VPS13B	100802410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.846000	0.99502	2.861000	0.98227	0.655000	0.94253	GAT	.		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100733234	G	T	100733234	3	4	9	1	0	0	0	0	1	0	0	0	17239	1174	41	3	7428	3	VPS13B	8	100733234	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3576195	100733234	45630788	327	1914											
UBR5	51366	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	103284937	103284937	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtgtagtagcacatcttcGaccaaagtgattgttaagct	10	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:103284937G>T	ENST00000520539.1	-	48	7399	c.6793C>A	c.(6793-6795)Cga>Aga	p.R2265R	UBR5_ENST00000518205.1_5'UTR|UBR5_ENST00000220959.4_Silent_p.R2265R|UBR5_ENST00000521922.1_Silent_p.R2259R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2265					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)			GCACATCTTCGACCAAAGTGA	0.413																																					p.R2265R	Ovarian(131;96 1741 5634 7352 27489)	.											.	UBR5-761	0			c.C6793A						.						110	90	96					8																	103284937		2203	4300	6503	SO:0001819	synonymous_variant	51366	exon48			ATCTTCGACCAAA	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.6793C>A	8.37:g.103284937G>T		Somatic	147	1		WXS	Illumina GAIIx	Phase_I	112	60	NM_015902	0	0	1	2	1	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																			.		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103284937	G	T	103284937	2	4	9	1	0	0	0	0	0	0	0	1	16954	1066	37	2		2	UBR5	8	103284937	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2551703	103284937	43079085	328	1915											
TRPS1	7227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	116632191	116632191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaaattctttgttctttCcagataccttgctttctgta	5	9	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:116632191C>A	ENST00000220888.5	-	2	254	c.95G>T	c.(94-96)gGa>gTa	p.G32V	TRPS1_ENST00000519674.1_Missense_Mutation_p.G32V|TRPS1_ENST00000519076.1_Missense_Mutation_p.G32V|TRPS1_ENST00000395715.3_Missense_Mutation_p.G45V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G36V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	32					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTGTTCTTTCCAGATACCTT	0.448									Langer-Giedion syndrome																												p.G45V		.											.	TRPS1-229	0			c.G134T						.						112	100	104					8																	116632191		1857	4120	5977	SO:0001583	missense	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	TTCTTTCCAGATA	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.95G>T	8.37:g.116632191C>A	ENSP00000220888:p.Gly32Val	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	85	36	NM_014112	0	0	0	0	0	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	11.54	1.669440	0.29693	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98437	-4.91;-4.88;-4.93;-4.88;0.92	5.82	4.93	0.64822	.	0.291798	0.29616	N	0.011658	D	0.94212	0.8142	N	0.19112	0.55	0.58432	D	0.999994	B;B;B	0.13594	0.003;0.002;0.008	B;B;B	0.17979	0.02;0.005;0.02	D	0.90308	0.4335	10	0.62326	D	0.03	-0.7333	6.2342	0.20754	0.1398:0.6555:0.1346:0.0701	.	36;32;45	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	V	45;32;32;36;32;45;45;45	ENSP00000379065:G45V;ENSP00000220888:G32V;ENSP00000428910:G32V;ENSP00000428680:G36V;ENSP00000429174:G32V	ENSP00000220888:G32V	G	-	2	0	TRPS1	116701366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.525000	0.35953	1.434000	0.47414	0.650000	0.86243	GGA	.		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		A	116632191	C	A	116632191	3	1	9	1	0	0	0	0	1	0	0	0	16641	855	30	3	3770	3	TRPS1	8	116632191	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	13347254	116632191	29731831	329	1916											
SQLE	6713	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	126030309	126030309	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcttcataggtgttcttCttttgggagacgcatataat	8	8	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:126030309C>A	ENST00000265896.5	+	8	2111	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	SQLE_ENST00000523430.1_Missense_Mutation_p.L310I	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	405					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGGTGTTCTTCTTTTGGGAGA	0.343																																					p.L405I		.											.	SQLE-523	0			c.C1213A						.						99	94	96					8																	126030309		1827	4076	5903	SO:0001583	missense	6713	exon8			GTTCTTCTTTTGG	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1213C>A	8.37:g.126030309C>A	ENSP00000265896:p.Leu405Ile	Somatic	50	1		WXS	Illumina GAIIx	Phase_I	36	32	NM_003129	0	0	0	1	1	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888833	0.17540	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.58060	0.36;0.36;0.36	5.48	-1.32	0.09201	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.169646	0.53938	N	0.000054	T	0.51907	0.1702	M	0.70595	2.14	0.39063	D	0.960567	B	0.31655	0.334	B	0.37989	0.262	T	0.54268	-0.8319	10	0.42905	T	0.14	-4.4394	12.6588	0.56801	0.5336:0.3628:0.1036:0.0	.	405	Q14534	ERG1_HUMAN	I	310;405;210;57	ENSP00000430331:L310I;ENSP00000265896:L405I;ENSP00000429916:L57I	ENSP00000265896:L405I	L	+	1	0	SQLE	126099491	0.802000	0.28943	0.779000	0.31741	0.044000	0.14063	1.575000	0.36493	-0.245000	0.09625	0.655000	0.94253	CTT	.		0.343	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		A	126030309	C	A	126030309	3	1	9	1	0	0	0	0	1	0	0	0	15175	913	32	3	1142	3	SQLE	8	126030309	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9398118	126030309	20333713	330	1917											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	9	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	18348559	144378868	1985154	331	1918											
PYCRL	65263	bcgsc.ca	37	chr8	144687947	144687947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctcgcagcccgccctGctccagggcgtggagtccat	14	16	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144687947G>T	ENST00000220966.6	-	6	813	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	PYCRL_ENST00000377579.3_Missense_Mutation_p.Q113K|PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	250					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L248_A256delLEQGGLRAA(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	AGCCCGCCCTGCTCCAGGGCG	0.677																																					p.Q262K		.											.	PYCRL-90	1	Deletion - In frame(1)	ovary(1)	c.C784A						.						42	44	43					8																	144687947		2203	4298	6501	SO:0001583	missense	65263	exon6			CGCCCTGCTCCAG	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.784C>A	8.37:g.144687947G>T	ENSP00000220966:p.Gln262Lys	Somatic	53	2		WXS	Illumina GAIIx	Phase_I	96	44	NM_023078	0	0	4	20	16	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	CCDS6407.2	.	.	.	.	.	.	.	.	.	.	G	3.245	-0.154526	0.06544	.	.	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.83506	-1.73;-1.73;-1.73	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, C-terminal-like (1);	.	.	.	.	T	0.60637	0.2284	N	0.03224	-0.385	0.25430	N	0.988194	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.002	T	0.42155	-0.9468	9	0.02654	T	1	8.9115	10.9915	0.47551	0.0:0.0:0.7067:0.2933	.	262;250	D3DWK4;Q53H96	.;P5CR3_HUMAN	K	262;113;237	ENSP00000220966:Q262K;ENSP00000366802:Q113K;ENSP00000404493:Q237K	ENSP00000220966:Q262K	Q	-	1	0	PYCRL	144759090	1.000000	0.71417	0.999000	0.59377	0.717000	0.41224	2.633000	0.46519	2.336000	0.79503	0.561000	0.74099	CAG	.		0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		T	144687947	G	T	144687947	3	4	9	1	0	0	0	0	1	0	0	0	12902	1328	46	3	80	3	PYCRL	8	144687947	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	309079	144687947	1676075	332	1919											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874554	144874554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccacctcccaggggTgggggggacgccgggctctg	21	13	1	0	rs6991873	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Silent_p.P1369P|SCRIB_ENST00000356994.2_Silent_p.P1450P|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					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)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1		0.998	False		,,,				2504	1				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3	4	4		4350,4350	-2.9	0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	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.4350A>G	8.37:g.144874554T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015356	0	0	0	18	18	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144874554	T	C	144874554	2	2	9	1	0	0	0	0	0	0	0	1	13982	1683	59	4		4	SCRIB	8	144874554	Silent	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	186607	144874554	1489468	333	1920											
PLEC	5339	hgsc.bcm.edu	37	chr8	144996263	144996263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccgctgctgctccaGctgctgcagctcctcctgct	10	19	0	0	rs11988293	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr8:144996263G>A	ENST00000322810.4	-	32	8306	c.8137C>T	c.(8137-8139)Ctg>Ttg	p.L2713L	PLEC_ENST00000357649.2_Silent_p.L2580L|PLEC_ENST00000345136.3_Silent_p.L2576L|PLEC_ENST00000527096.1_Silent_p.L2599L|PLEC_ENST00000436759.2_Silent_p.L2603L|PLEC_ENST00000398774.2_Silent_p.L2544L|PLEC_ENST00000356346.3_Silent_p.L2562L|PLEC_ENST00000354589.3_Silent_p.L2576L|PLEC_ENST00000354958.2_Silent_p.L2554L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2713	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctccagctgctgcagc	0.721													G|||	268	0.0535144	0.1952	0.013	5008	,	,		15052	0		0.001	False		,,,				2504	0				p.L2713L		.											.	PLEC-141	0			c.C8137T						.	G	,,,,,,,	677,3429		38,601,1414	5	6	5		7807,7684,7660,8137,7630,7726,7738,7726	3.2	0.7	8	dbSNP_120	5	6,7986		0,6,3990	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	38,607,5404	AA,AG,GG		0.0751,16.4881,5.6456	,,,,,,,	2603/4575,2562/4534,2554/4526,2713/4685,2544/4516,2576/4548,2580/4552,2576/4548	144996263	683,11415	2053	3996	6049	SO:0001819	synonymous_variant	5339	exon32			GCTCCAGCTGCTG	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.8137C>T	8.37:g.144996263G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	32	31	NM_201380	0	0	1	12	11	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.958;A|0.042		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144996263	G	A	144996263	2	1	9	1	0	0	0	0	0	0	0	1	12091	962	34	3		3	PLEC	8	144996263	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	121709	144996263	1367759	334	1921											
SLC1A1	6505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	4583052	4583052	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcagtatcacggccacatCtgccagcatcggagctgctg	11	14	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:4583052C>A	ENST00000262352.3	+	11	1444	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	403					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ACGGCCACATCTGCCAGCATC	0.587																																					p.S403Y		.											.	SLC1A1-514	0			c.C1208A						.						105	90	95					9																	4583052		2203	4300	6503	SO:0001583	missense	6505	exon11			CCACATCTGCCAG		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1208C>A	9.37:g.4583052C>A	ENSP00000262352:p.Ser403Tyr	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	103	17	NM_004170	0	0	3	3	0	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173489	0.38413	.	.	ENSG00000106688	ENST00000262352	T	0.58652	0.32	5.49	5.49	0.81192	.	0.263225	0.43416	D	0.000561	T	0.44414	0.1292	N	0.08118	0	0.80722	D	1	B	0.15719	0.014	B	0.24701	0.055	T	0.40440	-0.9563	10	0.66056	D	0.02	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	403	P43005	EAA3_HUMAN	Y	403	ENSP00000262352:S403Y	ENSP00000262352:S403Y	S	+	2	0	SLC1A1	4573052	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	4.815000	0.62634	2.746000	0.94184	0.655000	0.94253	TCT	.		0.587	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			A	4583052	C	A	4583052	3	1	9	1	0	0	0	0	1	0	0	0	14476	913	32	3	1250	3	SLC1A1	9	4583052	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		4583052	136630379	335	1922											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	30	12	NM_024896	0	0	0	1	1	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	9	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1249676	5832728	135380703	336	1923											
RANBP6	26953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	6013222	6013222	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcccagttcttccaagtgttCatcattaaggcaaccatctc	5	13	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:6013222C>A	ENST00000259569.5	-	1	2396	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	796					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCAAGTGTTCATCATTAAGG	0.383																																					p.E796X		.											.	RANBP6-229	0			c.G2386T						.						116	125	122					9																	6013222		2203	4300	6503	SO:0001587	stop_gained	26953	exon1			AGTGTTCATCATT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2386G>T	9.37:g.6013222C>A	ENSP00000259569:p.Glu796*	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	83	24	NM_012416	0	0	6	14	8	Q5T7X4|Q7Z3V2|Q96E78	Nonsense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089370	0.97271	.	.	ENSG00000137040	ENST00000259569	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.7105	14.5232	0.67867	0.0:1.0:0.0:0.0	.	.	.	.	X	796	.	ENSP00000259569:E796X	E	-	1	0	RANBP6	6003222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.542000	0.85734	0.650000	0.86243	GAA	.		0.383	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		A	6013222	C	A	6013222	4	1	9	1	0	0	0	0	0	1	0	0	13076	835	29	3	935	3	RANBP6	9	6013222	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	180494	6013222	135200209	337	1924											
C9orf150	286343	broad.mit.edu	37	chr9	12821687	12821687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggaccaattcagtgacagCtccctcatagaggactcaca	8	12	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:12821687C>A	ENST00000319264.3	+	2	1310	c.615C>A	c.(613-615)agC>agA	p.S205R		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	208																	TCAGTGACAGCTCCCTCATAG	0.502																																					p.S205R		.											.	.	0			c.C615A						.						185	166	172					9																	12821687		2203	4300	6503	SO:0001583	missense	286343	exon2			TGACAGCTCCCTC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.615C>A	9.37:g.12821687C>A	ENSP00000321026:p.Ser205Arg	Somatic	116	2		WXS	Illumina GAIIx	Phase_I	110	7	NM_203403	0	0	8	12	4	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022397	0.54683	.	.	ENSG00000153714	ENST00000319264	T	0.45668	0.89	5.59	2.76	0.32466	.	0.268039	0.36268	N	0.002690	T	0.24890	0.0604	N	0.24115	0.695	0.29422	N	0.860514	B	0.30361	0.277	B	0.27380	0.079	T	0.16689	-1.0394	10	0.66056	D	0.02	.	5.9836	0.19421	0.0:0.5949:0.0:0.4051	.	208	Q8IV03	CI150_HUMAN	R	205	ENSP00000321026:S205R	ENSP00000321026:S205R	S	+	3	2	C9orf150	12811687	0.908000	0.30866	0.993000	0.49108	0.892000	0.51952	0.280000	0.18790	0.726000	0.32339	0.563000	0.77884	AGC	.		0.502	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		A	12821687	C	A	12821687	3	1	9	1	0	0	0	0	1	0	0	0	2469	796	28	3	621	3	C9orf150	9	12821687	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6808465	12821687	128391744	338	1925											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	13176296	13176296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaaagccagaagcaggccCcatacttatgtccaccgaag	9	12	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:13176296C>A	ENST00000319217.7	-	20	3017	c.2770G>T	c.(2770-2772)Ggg>Tgg	p.G924W	MPDZ_ENST00000546205.1_Missense_Mutation_p.G924W|MPDZ_ENST00000381022.2_Missense_Mutation_p.G924W|MPDZ_ENST00000541718.1_Missense_Mutation_p.G924W|MPDZ_ENST00000381015.4_Missense_Mutation_p.G924W|MPDZ_ENST00000447879.1_Missense_Mutation_p.G924W|MPDZ_ENST00000536827.1_Missense_Mutation_p.G924W	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	924					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)		GAAGCAGGCCCCATACTTATG	0.403																																					p.G924W		.											.	MPDZ-231	0			c.G2770T						.						108	93	97					9																	13176296		1868	4109	5977	SO:0001583	missense	8777	exon20			CAGGCCCCATACT	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.2770G>T	9.37:g.13176296C>A	ENSP00000320006:p.Gly924Trp	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	137	11	NM_003829	0	0	0	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	10.21	1.286927	0.23478	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.87;2.82;2.82;2.83;2.88;2.87;2.87	5.78	3.95	0.45737	.	0.963671	0.08487	N	0.938580	T	0.13286	0.0322	N	0.14661	0.345	0.24802	N	0.992698	P;P;D	0.56287	0.911;0.947;0.975	B;P;P	0.52758	0.294;0.489;0.708	T	0.37384	-0.9708	10	0.66056	D	0.02	.	10.7546	0.46230	0.0:0.8532:0.0:0.1468	.	924;924;924	B7ZMI4;O75970-3;O75970-2	.;.;.	W	924;924;924;924;924;924;874;924	ENSP00000320006:G924W;ENSP00000439807:G924W;ENSP00000370410:G924W;ENSP00000444151:G924W;ENSP00000415208:G924W;ENSP00000370403:G924W;ENSP00000446358:G924W	ENSP00000320006:G924W	G	-	1	0	MPDZ	13166296	0.006000	0.16342	0.003000	0.11579	0.005000	0.04900	1.171000	0.31896	0.794000	0.33899	-0.251000	0.11542	GGG	.		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13176296	C	A	13176296	3	1	9	1	0	0	0	0	1	0	0	0	9760	623	22	3	3463	3	MPDZ	9	13176296	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	354609	13176296	128037135	339	1926											
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	13188983	13188983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatcacagtgcttgctggatCaattggatcctgacagaagg	11	8	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:13188983C>A	ENST00000319217.7	-	17	2411	c.2164G>T	c.(2164-2166)Gat>Tat	p.D722Y	MPDZ_ENST00000546205.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.D722Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.D722Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.D722Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.D722Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	722	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)		CTTGCTGGATCAATTGGATCC	0.418																																					p.D722Y		.											.	MPDZ-231	0			c.G2164T						.						47	46	46					9																	13188983		1957	4156	6113	SO:0001583	missense	8777	exon17			CTGGATCAATTGG	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.2164G>T	9.37:g.13188983C>A	ENSP00000320006:p.Asp722Tyr	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	74	16	NM_003829	0	0	0	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.769492	0.90020	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.9	5.9	0.94986	.	0.000000	0.48286	D	0.000193	T	0.47451	0.1446	M	0.78223	2.4	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	0.40813	-0.9543	10	0.72032	D	0.01	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	722;722;722	B7ZMI4;O75970-3;O75970-2	.;.;.	Y	722;722;722;722;722;722;672;722	ENSP00000320006:D722Y;ENSP00000439807:D722Y;ENSP00000370410:D722Y;ENSP00000444151:D722Y;ENSP00000415208:D722Y;ENSP00000370403:D722Y;ENSP00000446358:D722Y	ENSP00000320006:D722Y	D	-	1	0	MPDZ	13178983	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	4.659000	0.61504	2.797000	0.96272	0.655000	0.94253	GAT	.		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13188983	C	A	13188983	3	1	9	1	0	0	0	0	1	0	0	0	9760	826	29	3	4081	3	MPDZ	9	13188983	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	12687	13188983	128024448	340	1927											
BNC2	54796	broad.mit.edu;ucsc.edu	37	chr9	16437424	16437424	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgccatcagctccacaatGgatttggtttctccaaaccg	7	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:16437424G>T	ENST00000380672.4	-	6	825	c.768C>A	c.(766-768)tcC>tcA	p.S256S	BNC2_ENST00000380667.2_Silent_p.S189S|BNC2_ENST00000545497.1_Silent_p.S161S|BNC2_ENST00000380666.2_Silent_p.S256S	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)		GCTCCACAATGGATTTGGTTT	0.493																																					p.S256S		.											.	BNC2-92	0			c.C768A						.						75	77	76					9																	16437424		2203	4300	6503	SO:0001819	synonymous_variant	54796	exon6			CACAATGGATTTG	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.768C>A	9.37:g.16437424G>T		Somatic	61	1		WXS	Illumina GAIIx	Phase_I	47	7	NM_017637	0	0	0	0	0		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																			.		0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16437424	G	T	16437424	2	4	9	1	0	0	0	0	0	0	0	1	1477	1335	47	3		3	BNC2	9	16437424	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3248441	16437424	124776007	341	1928											
MLLT3	4300	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	20414048	20414048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggtgagtaagttactatCtggttttggctcttttgaca	11	5	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:20414048C>A	ENST00000380338.4	-	5	1082	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Missense_Mutation_p.D263Y	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	266					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)		AAGTTACTATCTGGTTTTGGC	0.403			T	MLL	ALL																																p.D266Y		.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	MLLT3-660	0			c.G796T						.						292	294	293					9																	20414048		2203	4300	6503	SO:0001583	missense	4300	exon5			TACTATCTGGTTT	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.796G>T	9.37:g.20414048C>A	ENSP00000369695:p.Asp266Tyr	Somatic	155	1		WXS	Illumina GAIIx	Phase_I	243	31	NM_004529	0	0	5	8	3	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235856	0.39498	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.78	5.78	0.91487	.	0.160465	0.53938	D	0.000041	T	0.44435	0.1293	N	0.19112	0.55	0.80722	D	1	P;P	0.47350	0.894;0.894	B;B	0.41723	0.365;0.365	T	0.50800	-0.8785	9	0.87932	D	0	-16.1418	19.9886	0.97358	0.0:1.0:0.0:0.0	.	263;266	B7Z755;P42568	.;AF9_HUMAN	Y	266;263;305	.	ENSP00000369695:D266Y	D	-	1	0	MLLT3	20404048	1.000000	0.71417	0.996000	0.52242	0.355000	0.29361	4.701000	0.61810	2.727000	0.93392	0.655000	0.94253	GAT	.		0.403	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		A	20414048	C	A	20414048	3	1	9	1	0	0	0	0	1	0	0	0	9666	913	32	3	938	3	MLLT3	9	20414048	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3976624	20414048	120799383	342	1929											
KIAA1797	54914	broad.mit.edu	37	chr9	20929356	20929356	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttctttggcatgtcctaGaagtcctattctggtgaaaa	8	8	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:20929356G>T	ENST00000380249.1	+	29	3442		c.e29-1		FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GCATGTCCTAGAAGTCCTATT	0.443																																					.		.											.	.	0			c.3079-1G>T						.						86	84	85					9																	20929356		2203	4300	6503	SO:0001630	splice_region_variant	54914	exon29			GTCCTAGAAGTCC	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3079-1G>T	9.37:g.20929356G>T		Somatic	52	1		WXS	Illumina GAIIx	Phase_I	71	12	NM_017794	0	0	0	1	1	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20919356	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.292000	0.78731	2.820000	0.97059	0.650000	0.86243	.	.		0.443	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	T	20929356	G	T	20929356	5	4	9	1	0	0	0	0	0	0	1	0	8285	956	33	3	3180	3	KIAA1797	9	20929356	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	515308	20929356	120284075	343	1930											
IFNW1	3467	broad.mit.edu	37	chr9	21141179	21141179	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctaattgccccagcagattCtccttctcccactacctgca	5	17	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:21141179C>A	ENST00000380229.2	-	1	965	c.391G>T	c.(391-393)Gaa>Taa	p.E131*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	131					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGCAGATTCTCCTTCTCCC	0.537																																					p.E131X		.											.	IFNW1-90	0			c.G391T						.						83	76	79					9																	21141179		2203	4300	6503	SO:0001587	stop_gained	3467	exon1			CAGATTCTCCTTC		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.391G>T	9.37:g.21141179C>A	ENSP00000369578:p.Glu131*	Somatic	92	2		WXS	Illumina GAIIx	Phase_I	122	14	NM_002177	0	0	0	0	0	Q13168|Q5U802|Q5VWD0|Q7M4P5	Nonsense_Mutation	SNP	ENST00000380229.2	37	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	37	6.373802	0.97515	.	.	ENSG00000177047	ENST00000380229	.	.	.	4.53	0.548	0.17208	.	0.821630	0.10979	N	0.612853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.9917	0.30244	0.0:0.6574:0.0:0.3426	.	.	.	.	X	131	.	ENSP00000369578:E131X	E	-	1	0	IFNW1	21131179	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.021000	0.13489	-0.070000	0.12908	0.460000	0.39030	GAA	.		0.537	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		A	21141179	C	A	21141179	4	1	9	1	0	0	0	0	0	1	0	0	7579	922	32	3	200	3	IFNW1	9	21141179	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	211823	21141179	120072252	344	1931											
ACO1	48	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	32430444	32430444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtagctgttggagtactatCtggaaacaggaattttgaag	12	4	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:32430444C>A	ENST00000309951.6	+	14	1736	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	ACO1_ENST00000379923.1_Missense_Mutation_p.S533Y|ACO1_ENST00000541043.1_Missense_Mutation_p.S434Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	533					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)		GGAGTACTATCTGGAAACAGG	0.458																																					p.S533Y		.											.	ACO1-226	0			c.C1598A						.						156	147	150					9																	32430444		2203	4300	6503	SO:0001583	missense	48	exon14			TACTATCTGGAAA	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.1598C>A	9.37:g.32430444C>A	ENSP00000309477:p.Ser533Tyr	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	180	20	NM_002197	0	0	24	27	3	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112408	0.94339	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.25579	1.79;1.79;1.79	6.05	6.05	0.98169	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	0.72771	0.3502	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84648	0.0699	10	0.87932	D	0	-27.2567	19.3727	0.94495	0.0:1.0:0.0:0.0	.	569;533	Q59FI0;P21399	.;ACOC_HUMAN	Y	569;533;533;434	ENSP00000309477:S533Y;ENSP00000369255:S533Y;ENSP00000438733:S434Y	ENSP00000309477:S533Y	S	+	2	0	ACO1	32420444	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	TCT	.		0.458	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		A	32430444	C	A	32430444	3	1	9	1	0	0	0	0	1	0	0	0	146	913	32	3	1648	3	ACO1	9	32430444	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11289265	32430444	108782987	345	1932											
CNTFR	1271	broad.mit.edu;ucsc.edu	37	chr9	34568922	34568922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtctctgggcgtagaCaactgcggcggcggcggcaa	16	11	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:34568922C>A	ENST00000378980.3	-	3	351	c.58G>T	c.(58-60)Gtc>Ttc	p.V20F	CNTFR-AS1_ENST00000436360.1_RNA|CNTFR-AS1_ENST00000453642.1_RNA|CNTFR-AS1_ENST00000438244.1_RNA|CNTFR_ENST00000351266.4_Missense_Mutation_p.V20F|CNTFR-AS1_ENST00000454187.1_RNA	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	20					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)		TGGGCGTAGACAACTGCGGCG	0.662																																					p.V20F		.											.	CNTFR-518	0			c.G58T						.						22	25	24					9																	34568922		2200	4297	6497	SO:0001583	missense	1271	exon3			CGTAGACAACTGC	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.58G>T	9.37:g.34568922C>A	ENSP00000368265:p.Val20Phe	Somatic	149	2		WXS	Illumina GAIIx	Phase_I	170	18	NM_147164	0	0	0	0	0	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510024	0.64522	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.29917	1.55;1.55;1.55	4.83	4.83	0.62350	.	0.280182	0.22850	N	0.054868	T	0.30603	0.0770	M	0.62723	1.935	0.37182	D	0.903531	P	0.42757	0.789	B	0.38156	0.266	T	0.46857	-0.9161	9	0.30854	T	0.27	.	13.2919	0.60276	0.0:1.0:0.0:0.0	.	20	P26992	CNTFR_HUMAN	F	20	ENSP00000368265:V20F;ENSP00000242338:V20F;ENSP00000388082:V20F	ENSP00000242338:V20F	V	-	1	0	CNTFR	34558922	0.989000	0.36119	1.000000	0.80357	0.963000	0.63663	3.658000	0.54482	2.504000	0.84457	0.655000	0.94253	GTC	.		0.662	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			A	34568922	C	A	34568922	3	1	9	1	0	0	0	0	1	0	0	0	3645	478	17	3	1092	3	CNTFR	9	34568922	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2138478	34568922	106644509	346	1933											
TPM2	768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35682151	35682151	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttctcctccttggcactgGccaaggtctctgtgagggga	13	12	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:35682151G>T	ENST00000378357.4	+	0	1618				TPM2_ENST00000378292.3_Missense_Mutation_p.A261D|TPM2_ENST00000378300.5_3'UTR|TPM2_ENST00000329305.2_Missense_Mutation_p.A261D	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						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)	CTTGGCACTGGCCAAGGTCTC	0.612																																					p.A261D		.											.	TPM2-515	0			c.C782A						.						70	60	63					9																	35682151		2203	4300	6503	SO:0001628	intergenic_variant	7169	exon9			GCACTGGCCAAGG	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		9.37:g.35682151G>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	115	23	NM_213674	0	0	8	9	1	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671006	0.67814	.	.	ENSG00000198467	ENST00000378292;ENST00000329305	D;D	0.97256	-4.31;-4.31	5.12	5.12	0.69794	.	.	.	.	.	D	0.95159	0.8431	L	0.52364	1.645	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.92337	0.5878	9	0.51188	T	0.08	.	15.4264	0.75055	0.0:0.0:1.0:0.0	.	261	P07951-2	.	D	261	ENSP00000367542:A261D;ENSP00000367541:A261D	ENSP00000367541:A261D	A	-	2	0	TPM2	35672151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.082000	0.64450	2.668000	0.90789	0.591000	0.81541	GCC	.		0.612	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		T	35682151	G	T	35682151	1	4	9	0	1	0	0	0	0	0	0	0	16454	1203	42	3		3	TPM2	9	35682151	IGR	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1113229	35682151	105531280	347	1934											
SPAG8	4882	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	35810505	35810505	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgtcacagactcaacCtcgaagagcttccttgtggg	12	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:35810505C>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.E375D|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.E377D|SPAG8_ENST00000396638.2_Missense_Mutation_p.E377D	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGACTCAACCTCGAAGAGCT	0.557																																					p.E377D		.											.	SPAG8-91	0			c.G1131T						.						159	152	154					9																	35810505		2203	4300	6503	SO:0001628	intergenic_variant	26206	exon5			CTCAACCTCGAAG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810505C>A		Somatic	102	1		WXS	Illumina GAIIx	Phase_I	148	34	NM_001039592	0	0	1	1	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.33|11.33	1.606940|1.606940	0.28623|0.28623	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638|ENST00000497810	T;T;T|.	0.41400|.	1.0;1.11;1.11|.	5.38|5.38	0.853|0.853	0.19001|0.19001	.|.	0.085569|.	0.41097|.	D|.	0.000959|.	T|T	0.38957|0.38957	0.1060|0.1060	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.61397|.	0.851;0.888|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|5	0.46703|.	T|.	0.11|.	-10.178|-10.178	3.12|3.12	0.06387|0.06387	0.2065:0.3628:0.0:0.4306|0.2065:0.3628:0.0:0.4306	.|.	377;377|.	E9PDV6;Q99932-2|.	.;.|.	D|M	377;375;377|375	ENSP00000340982:E377D;ENSP00000418072:E375D;ENSP00000379878:E377D|.	ENSP00000340982:E377D|.	E|R	-|-	3|2	2|0	SPAG8|SPAG8	35800505|35800505	0.006000|0.006000	0.16342|0.16342	0.042000|0.042000	0.18584|0.18584	0.106000|0.106000	0.19336|0.19336	-0.130000|-0.130000	0.10498|0.10498	0.587000|0.587000	0.29643|0.29643	0.650000|0.650000	0.86243|0.86243	GAG|AGG	.		0.557	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			A	35810505	C	A	35810505	1	1	9	0	1	0	0	0	0	0	0	0	15031	680	24	3		3	SPAG8	9	35810505	IGR	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	128354	35810505	105402926	348	1935											
RECK	8434	broad.mit.edu;bcgsc.ca	37	chr9	36102095	36102095	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatttttttttcaagatcaGattgtgtggagattcttaaa	8	4	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:36102095G>T	ENST00000377966.3	+	12	1869	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	435					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)			TTCAAGATCAGATTGTGTGGA	0.398																																					p.D435Y		.											.	RECK-93	0			c.G1303T						.						94	95	94					9																	36102095		2203	4300	6503	SO:0001583	missense	8434	exon12			AGATCAGATTGTG	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.1303G>T	9.37:g.36102095G>T	ENSP00000367202:p.Asp435Tyr	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	81	5	NM_021111	0	0	0	0	0	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443350	0.83993	.	.	ENSG00000122707	ENST00000377966	T	0.59224	0.28	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77747	-0.2472	10	0.87932	D	0	-20.4538	17.1738	0.86836	0.0:0.0:1.0:0.0	.	435;435	A8K9D8;O95980	.;RECK_HUMAN	Y	435	ENSP00000367202:D435Y	ENSP00000367202:D435Y	D	+	1	0	RECK	36092095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.537000	0.98070	2.726000	0.93360	0.655000	0.94253	GAT	.		0.398	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36102095	G	T	36102095	3	4	9	1	0	0	0	0	1	0	0	0	13245	942	33	3	1349	3	RECK	9	36102095	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	291590	36102095	105111336	349	1936											
GLIPR2	152007	ucsc.edu	37	chr9	36147782	36147782	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccattttgcaatcattccaGcttccaaacagtttcataat	3	11	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:36147782G>T	ENST00000377960.4	+	2	47		c.e2-1		GLIPR2_ENST00000474050.1_Splice_Site|GLIPR2_ENST00000396613.3_Splice_Site|GLIPR2_ENST00000377959.1_Splice_Site	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2						positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AATCATTCCAGCTTCCAAACA	0.493																																					.		.											.	GLIPR2-93	0			c.14-1G>T						.						231	235	233					9																	36147782		2203	4300	6503	SO:0001630	splice_region_variant	152007	exon2			ATTCCAGCTTCCA	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"chromosome 9 open reading frame 19"	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.14-1G>T	9.37:g.36147782G>T		Somatic	80	3		WXS	Illumina GAIIx	Phase_I	84	30	NM_022343	0	0	0	0	0	Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Splice_Site	SNP	ENST00000377960.4	37	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050873	0.75960	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1485	0.65367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLIPR2	36137782	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.910000	0.87451	2.409000	0.81822	0.561000	0.74099	.	.		0.493	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343	Intron	T	36147782	G	T	36147782	5	4	9	1	0	0	0	0	0	0	1	0	6470	985	34	3	19	3	GLIPR2	9	36147782	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	45687	36147782	105065649	350	1937											
FAM75A3	727830	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	40705691	40705691	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgagaagtttaggaagccCaacttagaaaaacatgaaga	10	5	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:40705691C>A	ENST00000356699.5	+	4	3377	c.3348C>A	c.(3346-3348)ccC>ccA	p.P1116P	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1116					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAGGAAGCCCAACTTAGAAA	0.483																																					p.P1116P		.											.	.	0			c.C3348A						.						115	101	105					9																	40705691		1560	3116	4676	SO:0001819	synonymous_variant	727830	exon4			GAAGCCCAACTTA			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3348C>A	9.37:g.40705691C>A		Somatic	321	0		WXS	Illumina GAIIx	Phase_I	429	61	NM_001083124	0	0	0	0	0		Silent	SNP	ENST00000356699.5	37	CCDS47969.1																																																																																			.		0.483	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		A	40705691	C	A	40705691	2	1	9	1	0	0	0	0	0	0	0	1	5643	581	21	3		3	FAM75A3	9	40705691	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4557909	40705691	100507740	351	1938											
APBA1	320	hgsc.bcm.edu	37	chr9	72131953	72131953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagctgggcgcggaggtcCtcgagggctcgcccgcgctg	18	15	0	0	rs149995729	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:72131953C>T	ENST00000265381.4	-	2	396	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	58					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGCGGAGGTCCTCGAGGGCTC	0.711													C|||	20	0.00399361	0	0.0072	5008	,	,		13816	0		0.0119	False		,,,				2504	0.0031				p.E58E		.											.	APBA1-91	0			c.G174A						.	C		4,4360		0,4,2178	11	11	11		174	2.2	0.9	9	dbSNP_134	11	136,8348		1,134,4107	no	coding-synonymous	APBA1	NM_001163.3		1,138,6285	TT,TC,CC		1.603,0.0917,1.0897		58/838	72131953	140,12708	2182	4242	6424	SO:0001819	synonymous_variant	320	exon2			GAGGTCCTCGAGG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.174G>A	9.37:g.72131953C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																			C|0.995;T|0.005		0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		T	72131953	C	T	72131953	2	4	9	1	0	0	0	0	0	0	0	1	756	680	24	3		3	APBA1	9	72131953	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	31426262	72131953	69081478	352	1939											
MAMDC2	256691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	72741314	72741314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggaggtcgagttcagtGctccttaccccatggaggta	13	10	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:72741314G>T	ENST00000377182.4	+	6	1500	c.883G>T	c.(883-885)Gct>Tct	p.A295S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	295	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CGAGTTCAGTGCTCCTTACCC	0.567																																					p.A295S		.											.	MAMDC2-91	0			c.G883T						.						79	55	64					9																	72741314		2203	4300	6503	SO:0001583	missense	256691	exon6			TTCAGTGCTCCTT	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.883G>T	9.37:g.72741314G>T	ENSP00000366387:p.Ala295Ser	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	131	25	NM_153267	0	0	1	1	0	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524359	0.85600	.	.	ENSG00000165072	ENST00000377182	T	0.02121	4.44	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47873	-0.9083	10	0.07482	T	0.82	-20.182	20.5792	0.99380	0.0:0.0:1.0:0.0	.	295	Q7Z304	MAMC2_HUMAN	S	295	ENSP00000366387:A295S	ENSP00000366387:A295S	A	+	1	0	MAMDC2	71931134	1.000000	0.71417	0.836000	0.33094	0.669000	0.39330	7.606000	0.82863	2.873000	0.98535	0.561000	0.74099	GCT	.		0.567	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		T	72741314	G	T	72741314	3	4	9	1	0	0	0	0	1	0	0	0	9241	1319	46	3	905	3	MAMDC2	9	72741314	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	609361	72741314	68472117	353	1940											
TRPM3	80036	broad.mit.edu	37	chr9	73240174	73240174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtagttgcagcgataaGccccgcccatcaggtactcg	12	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:73240174G>T	ENST00000377111.2	-	13	1949	c.1706C>A	c.(1705-1707)gCt>gAt	p.A569D	TRPM3_ENST00000357533.2_Missense_Mutation_p.A583D|TRPM3_ENST00000396285.1_Missense_Mutation_p.A416D|TRPM3_ENST00000423814.3_Missense_Mutation_p.A596D|TRPM3_ENST00000360823.2_Missense_Mutation_p.A441D|TRPM3_ENST00000396292.4_Missense_Mutation_p.A441D|TRPM3_ENST00000358082.3_Missense_Mutation_p.A441D|TRPM3_ENST00000396280.5_Missense_Mutation_p.A428D|TRPM3_ENST00000377105.1_Missense_Mutation_p.A428D|TRPM3_ENST00000377106.1_Missense_Mutation_p.A441D|TRPM3_ENST00000408909.2_Missense_Mutation_p.A428D|TRPM3_ENST00000377110.3_Missense_Mutation_p.A569D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	594					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGCGATAAGCCCCGCCCAT	0.577																																					p.A569D		.											.	TRPM3-521	0			c.C1706A						.						47	47	47					9																	73240174		2203	4300	6503	SO:0001583	missense	80036	exon13			CGATAAGCCCCGC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1706C>A	9.37:g.73240174G>T	ENSP00000366315:p.Ala569Asp	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	69	3	NM_001007471	0	0	0	0	0	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.342786	0.95783	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D;P;P	0.89917	0.999;0.967;1.0;0.997;0.999;1.0;0.95;0.781	D;P;D;D;D;D;P;P	0.91635	0.986;0.748;0.999;0.954;0.969;0.999;0.712;0.558	D	0.88364	0.2990	10	0.72032	D	0.01	-14.227	20.5596	0.99324	0.0:0.0:1.0:0.0	.	569;569;569;583;441;428;551;416	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	D	569;569;441;441;428;583;428;416;441;441;596	ENSP00000366315:A569D;ENSP00000366314:A569D;ENSP00000366310:A441D;ENSP00000354066:A441D;ENSP00000366309:A428D;ENSP00000350140:A583D;ENSP00000386127:A428D;ENSP00000379581:A416D;ENSP00000379587:A441D;ENSP00000350791:A441D;ENSP00000389542:A596D	ENSP00000350140:A583D	A	-	2	0	TRPM3	72429994	1.000000	0.71417	0.906000	0.35671	0.998000	0.95712	9.659000	0.98597	2.868000	0.98415	0.555000	0.69702	GCT	.		0.577	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73240174	G	T	73240174	3	4	9	1	0	0	0	0	1	0	0	0	16635	971	34	3	3469	3	TRPM3	9	73240174	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	498860	73240174	67973257	354	1941											
TRPM6	140803	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	77411734	77411734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggaagtcctgggactgggGaacatgtgacatctcagctt	13	8	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:77411734G>T	ENST00000360774.1	-	18	2551	c.2314C>A	c.(2314-2316)Ccc>Acc	p.P772T	TRPM6_ENST00000361255.3_Missense_Mutation_p.P767T|TRPM6_ENST00000449912.2_Missense_Mutation_p.P767T|TRPM6_ENST00000451710.3_Missense_Mutation_p.P772T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P772T|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	772					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						TGGGACTGGGGAACATGTGAC	0.373																																					p.P772T		.											.	TRPM6-335	0			c.C2314A						.						138	129	132					9																	77411734		2203	4300	6503	SO:0001583	missense	140803	exon18			ACTGGGGAACATG	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.2314C>A	9.37:g.77411734G>T	ENSP00000354006:p.Pro772Thr	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	170	56	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695105	0.88830	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	L	0.57130	1.785	0.80722	D	1	D;D;P	0.89917	0.958;1.0;0.849	P;D;P	0.97110	0.749;1.0;0.623	T	0.67887	-0.5554	10	0.28530	T	0.3	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	435;772;767	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	T	772;772;767;767;772;435;435	ENSP00000354006:P772T;ENSP00000407341:P772T;ENSP00000396672:P767T;ENSP00000354962:P767T;ENSP00000366060:P772T	ENSP00000309693:P435T	P	-	1	0	TRPM6	76601554	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	CCC	.		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77411734	G	T	77411734	3	4	9	1	0	0	0	0	1	0	0	0	16638	1174	41	3	3842	3	TRPM6	9	77411734	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4171560	77411734	63801697	355	1942											
VPS13A	23230	ucsc.edu	37	chr9	79968553	79968553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtagcctatataggcattAcaaggttagatgcattaaat	8	5	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:79968553A>G	ENST00000360280.3	+	54	7908	c.7648A>G	c.(7648-7650)Aca>Gca	p.T2550A	VPS13A_ENST00000376636.3_Missense_Mutation_p.T2511A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T2550A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T2550A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2550					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						TATAGGCATTACAAGGTTAGA	0.308																																					p.T2550A		.											.	VPS13A-161	0			c.A7648G						.						49	47	47					9																	79968553		2203	4300	6503	SO:0001583	missense	23230	exon54			GGCATTACAAGGT	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.7648A>G	9.37:g.79968553A>G	ENSP00000353422:p.Thr2550Ala	Somatic	207	3		WXS	Illumina GAIIx	Phase_I	239	29	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260984	0.80246	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50548	0.92;0.74;0.83;0.92	5.56	5.56	0.83823	.	0.116551	0.64402	D	0.000018	T	0.65176	0.2666	L	0.60904	1.88	0.80722	D	1	P;D;D;D	0.89917	0.678;1.0;1.0;1.0	P;D;D;D	0.91635	0.755;0.997;0.999;0.999	T	0.64626	-0.6363	9	.	.	.	.	15.7065	0.77588	1.0:0.0:0.0:0.0	.	2511;2550;2550;2550	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	2550;2511;2550;2550	ENSP00000365821:T2550A;ENSP00000365823:T2511A;ENSP00000353422:T2550A;ENSP00000349985:T2550A	.	T	+	1	0	VPS13A	79158373	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.190000	0.89714	2.102000	0.63906	0.482000	0.46254	ACA	.		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79968553	A	G	79968553	3	3	9	1	0	0	0	0	1	0	0	0	17238	391	14	4	7862	4	VPS13A	9	79968553	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	2556819	79968553	61244878	356	1943											
C9orf3	84909	broad.mit.edu	37	chr9	97522087	97522087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacatacagctggaccctGccagagatgacctgcctctc	10	14	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:97522087G>T	ENST00000375315.2	+	1	22	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	C9orf3_ENST00000277198.2_Missense_Mutation_p.A8S|C9orf3_ENST00000297979.5_Missense_Mutation_p.A8S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	8					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCTGGACCCTGCCAGAGATGA	0.428																																					p.A8S		.											.	C9orf3-91	0			c.G22T						.						64	60	61					9																	97522087		2203	4300	6503	SO:0001583	missense	84909	exon2			GACCCTGCCAGAG	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.22G>T	9.37:g.97522087G>T	ENSP00000364464:p.Ala8Ser	Somatic	97	2		WXS	Illumina GAIIx	Phase_I	115	18	NM_001193331	0	0	0	0	0	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925373	0.00493	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.10763	2.84;2.89;3.05	4.84	1.16	0.20824	.	0.583394	0.17761	N	0.162888	T	0.01523	0.0049	N	0.00197	-1.87	0.09310	N	0.999997	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.41270	-0.9518	10	0.02654	T	1	-3.1513	2.1355	0.03761	0.1697:0.0823:0.2507:0.4973	.	8;8;8;8	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	S	8	ENSP00000277198:A8S;ENSP00000297979:A8S;ENSP00000364464:A8S	ENSP00000277198:A8S	A	+	1	0	C9orf3	96561908	0.953000	0.32496	0.840000	0.33206	0.864000	0.49448	0.747000	0.26290	0.034000	0.15491	-0.457000	0.05445	GCC	.		0.428	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		T	97522087	G	T	97522087	3	4	9	1	0	0	0	0	1	0	0	0	2484	1319	46	3	24	3	C9orf3	9	97522087	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	17553534	97522087	43691344	357	1944											
C9orf102	375748	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	98728916	98728916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagttcaaggatctaaagagCatcaaggagagctttttggg	12	6	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:98728916C>A	ENST00000288985.7	+	14	2358	c.2053C>A	c.(2053-2055)Cat>Aat	p.H685N	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.H496N|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	685					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATCTAAAGAGCATCAAGGAGA	0.408																																					p.H685N		.											.	.	0			c.C2053A						.						126	117	120					9																	98728916		2203	4300	6503	SO:0001583	missense	375748	exon14			AAAGAGCATCAAG	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2053C>A	9.37:g.98728916C>A	ENSP00000288985:p.His685Asn	Somatic	144	1		WXS	Illumina GAIIx	Phase_I	139	37	NM_001010895	0	0	0	1	1	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567261	0.45694	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.89746	-2.53;-2.56	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000078	T	0.82001	0.4942	N	0.13235	0.315	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.74469	-0.3655	10	0.35671	T	0.21	-23.4272	19.5025	0.95103	0.0:1.0:0.0:0.0	.	496;685	Q5T890-2;Q5T890	.;RAD26_HUMAN	N	685;496	ENSP00000288985:H685N;ENSP00000416286:H496N	ENSP00000288985:H685N	H	+	1	0	C9orf102	97768737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.838000	0.48199	2.937000	0.99478	0.650000	0.86243	CAT	.		0.408	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		A	98728916	C	A	98728916	3	1	9	1	0	0	0	0	1	0	0	0	2452	710	25	3	2107	3	C9orf102	9	98728916	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1206829	98728916	42484515	358	1945											
TDRD7	23424	broad.mit.edu;bcgsc.ca	37	chr9	100234690	100234690	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacattccacttgttgttctGtacgatacctcaggagaaga	9	9	2	2	rs200338871		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:100234690G>T	ENST00000355295.4	+	10	2152	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	TDRD7_ENST00000422139.2_Silent_p.L545L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	619					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTGTTGTTCTGTACGATACCT	0.428																																					p.L619L		.											.	TDRD7-93	0			c.G1857T						.						172	155	161					9																	100234690		2203	4300	6503	SO:0001819	synonymous_variant	23424	exon10			TGTTCTGTACGAT	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1857G>T	9.37:g.100234690G>T		Somatic	170	1		WXS	Illumina GAIIx	Phase_I	195	9	NM_014290	0	0	8	8	0	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	CCDS6725.1																																																																																			G|1.000;A|0.000		0.428	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		T	100234690	G	T	100234690	2	4	9	1	0	0	0	0	0	0	0	1	15782	1364	48	3		3	TDRD7	9	100234690	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1505774	100234690	40978741	359	1946											
GALNT12	79695	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	101606450	101606450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccagattgtgggacacCaggtcattctgtacctctgt	9	10	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:101606450C>A	ENST00000375011.3	+	8	1417	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	473	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGTGGGACACCAGGTCATTCT	0.403																																					p.Q473K		.											.	GALNT12-92	0			c.C1417A						.						109	101	104					9																	101606450		2203	4300	6503	SO:0001583	missense	79695	exon8			GGACACCAGGTCA	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1417C>A	9.37:g.101606450C>A	ENSP00000364150:p.Gln473Lys	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	122	8	NM_024642	0	0	0	0	0	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892960	0.17613	.	.	ENSG00000119514	ENST00000375011	T	0.26373	1.74	5.46	3.48	0.39840	Ricin B-related lectin (1);Ricin B lectin (3);	0.110361	0.64402	D	0.000016	T	0.17662	0.0424	L	0.34521	1.04	0.30158	N	0.8025	B	0.30146	0.27	B	0.31812	0.136	T	0.13442	-1.0509	10	0.15066	T	0.55	.	9.9341	0.41541	0.1559:0.6934:0.1508:0.0	.	473	Q8IXK2	GLT12_HUMAN	K	473	ENSP00000364150:Q473K	ENSP00000364150:Q473K	Q	+	1	0	GALNT12	100646271	0.680000	0.27605	0.999000	0.59377	0.659000	0.38960	1.323000	0.33701	1.299000	0.44798	0.655000	0.94253	CAG	.		0.403	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		A	101606450	C	A	101606450	3	1	9	1	0	0	0	0	1	0	0	0	6235	595	21	3	1447	3	GALNT12	9	101606450	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1371760	101606450	39606981	360	1947											
MRPL50	54534	broad.mit.edu;bcgsc.ca	37	chr9	104152827	104152827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttagatctatcttgaataGggacattatagaaatcaaga	7	4	3	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:104152827G>T	ENST00000374865.4	-	2	419	c.398C>A	c.(397-399)cCt>cAt	p.P133H	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	133						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATCTTGAATAGGGACATTATA	0.413																																					p.P133H		.											.	MRPL50-226	0			c.C398A						.						82	80	80					9																	104152827		2202	4298	6500	SO:0001583	missense	54534	exon2			TGAATAGGGACAT	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"Mitochondrial ribosomal proteins / large subunits"	16654	protein-coding gene	gene with protein product	"mitochondrial 39S ribosomal protein L50"	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.398C>A	9.37:g.104152827G>T	ENSP00000363999:p.Pro133His	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	208	7	NM_019051	0	0	60	62	2	B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417921	0.62622	.	.	ENSG00000136897	ENST00000374865	T	0.48836	0.8	5.9	5.9	0.94986	.	0.177594	0.40554	N	0.001075	T	0.71451	0.3341	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74206	-0.3740	10	0.87932	D	0	-15.5497	16.9915	0.86355	0.0:0.0:1.0:0.0	.	133	Q8N5N7	RM50_HUMAN	H	133	ENSP00000363999:P133H	ENSP00000363999:P133H	P	-	2	0	MRPL50	103192648	1.000000	0.71417	0.987000	0.45799	0.510000	0.34073	4.466000	0.60148	2.793000	0.96121	0.563000	0.77884	CCT	.		0.413	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		T	104152827	G	T	104152827	3	4	9	1	0	0	0	0	1	0	0	0	9852	1000	35	3	82	3	MRPL50	9	104152827	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2546377	104152827	37060604	361	1948											
OR13C5	138799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	107361140	107361140	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtcagcacaggccagtttCatgacagctagaatttcaca	8	10	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:107361140C>A	ENST00000374779.2	-	1	648	c.555G>T	c.(553-555)atG>atT	p.M185I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M185I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGCCAGTTTCATGACAGCTA	0.398																																					p.M185I		.											.	OR13C5-72	1	Substitution - Missense(1)	skin(1)	c.G555T						.						178	165	169					9																	107361140		2203	4300	6503	SO:0001583	missense	138799	exon1			CAGTTTCATGACA		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.555G>T	9.37:g.107361140C>A	ENSP00000363911:p.Met185Ile	Somatic	376	0		WXS	Illumina GAIIx	Phase_I	451	51	NM_001004482	0	0	0	0	0	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702911	0.30232	.	.	ENSG00000255800	ENST00000374779	T	0.00036	8.86	4.17	-0.202	0.13208	GPCR, rhodopsin-like superfamily (1);	0.343543	0.20627	U	0.088670	T	0.00039	0.0001	N	0.03154	-0.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.20773	-1.0265	10	0.29301	T	0.29	.	1.1392	0.01762	0.1526:0.415:0.1495:0.2828	.	185	Q8NGS8	O13C5_HUMAN	I	185	ENSP00000363911:M185I	ENSP00000363911:M185I	M	-	3	0	OR13C5	106400961	0.000000	0.05858	0.004000	0.12327	0.428000	0.31595	-0.873000	0.04214	0.076000	0.16826	-0.347000	0.07816	ATG	.		0.398	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361140	C	A	107361140	3	1	9	1	0	0	0	0	1	0	0	0	10976	826	29	3	403	3	OR13C5	9	107361140	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3208313	107361140	33852291	362	1949											
TAL2	6887	broad.mit.edu	37	chr9	108425002	108425002	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcaggggaacattctGgggctcttccctcaaggacc	12	13	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:108425002G>T	ENST00000334077.3	+	1	265	c.225G>T	c.(223-225)ctG>ctT	p.L75L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	75					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										GGAACATTCTGGGGCTCTTCC	0.552			T	TRB@	T-ALL																																p.L75L		.		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	.	TAL2-636	0			c.G225T						.						58	58	58					9																	108425002		2203	4300	6503	SO:0001819	synonymous_variant	6887	exon1			CATTCTGGGGCTC		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.225G>T	9.37:g.108425002G>T		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	96	4	NM_005421	0	0	0	0	0	A0AVI7	Silent	SNP	ENST00000334077.3	37	CCDS6767.1																																																																																			.		0.552	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		T	108425002	G	T	108425002	2	4	9	1	0	0	0	0	0	0	0	1	15589	1335	47	3		3	TAL2	9	108425002	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1063862	108425002	32788429	363	1950											
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	9	NM_001004065	0	0	1	1	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	9	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4386036	112811038	28402393	364	1951											
DNAJC25	548645	hgsc.bcm.edu	37	chr9	114393784	114393784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccggcgctgctgctgGtgcggcccgcgggggccctg	19	15	0	0	rs10980984	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:114393784G>A	ENST00000313525.3	+	1	153	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.V33M|LRRC37A5P_ENST00000374304.1_RNA|DNAJC25_ENST00000556107.1_Missense_Mutation_p.V33M	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	33						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GCTGCTGCTGGTGCGGCCCGC	0.781													G|||	656	0.13099	0.0098	0.0807	5008	,	,		11406	0.3452		0.162	False		,,,				2504	0.0777				p.V33M		.											.	DNAJC25-GNG10-159	0			c.G97A						.	G	MET/VAL,MET/VAL	43,2235		0,43,1096	1	2	2		97,97	1.1	0.4	9	dbSNP_120	2	451,4585		3,445,2070	no	missense,missense	DNAJC25,DNAJC25-GNG10	NM_001015882.2,NM_004125.3	21,21	3,488,3166	AA,AG,GG		8.9555,1.8876,6.7542	possibly-damaging,possibly-damaging	33/361,33/154	114393784	494,6820	1139	2518	3657	SO:0001583	missense	552891	exon1			CTGCTGGTGCGGC		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.97G>A	9.37:g.114393784G>A	ENSP00000320650:p.Val33Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_004125	0	0	3	5	2	Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	399	0.18269230769230768	11	0.022357723577235773	29	0.08011049723756906	230	0.4020979020979021	129	0.17018469656992086	G	10.57	1.387903	0.25031	0.018876	0.089555	ENSG00000059769;ENSG00000059769;ENSG00000244115	ENST00000313525;ENST00000556107;ENST00000374294	T	0.47869	0.83	4.29	1.14	0.20703	Heat shock protein DnaJ, N-terminal (1);	1.517590	0.03748	N	0.256126	T	0.00012	0.0000	N	0.14661	0.345	0.51767	P	6.20000000000065E-5	B;B	0.31351	0.32;0.042	B;B	0.38056	0.264;0.037	T	0.36744	-0.9735	9	0.33940	T	0.23	-7.852	3.7234	0.08465	0.0851:0.142:0.4815:0.2914	rs10980984	33;33	Q9H1X3-3;Q9H1X3	.;DJC25_HUMAN	M	33	ENSP00000320650:V33M	ENSP00000320650:V33M	V	+	1	0	DNAJC25-GNG10;DNAJC25	113433605	0.099000	0.21834	0.381000	0.26106	0.005000	0.04900	0.270000	0.18607	0.370000	0.24538	0.462000	0.41574	GTG	G|0.806;A|0.194		0.781	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		A	114393784	G	A	114393784	3	1	9	1	0	0	0	0	1	0	0	0	4657	1261	44	3	99	3	DNAJC25	9	114393784	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1582746	114393784	26819647	365	1952											
C9orf84	158401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114508596	114508596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttggcatgttaggaataGaggagttagtggcatttcta	13	3	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:114508596G>T	ENST00000318737.4	-	8	933	c.805C>A	c.(805-807)Cta>Ata	p.L269I	C9orf84_ENST00000394779.3_Missense_Mutation_p.L230I|C9orf84_ENST00000374283.5_Missense_Mutation_p.L333I|C9orf84_ENST00000394777.4_Missense_Mutation_p.L230I|C9orf84_ENST00000374287.3_Missense_Mutation_p.L269I	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	269										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTAGGAATAGAGGAGTTAGT	0.343																																					p.L269I		.											.	C9orf84-92	0			c.C805A						.						117	116	116					9																	114508596		2203	4300	6503	SO:0001583	missense	158401	exon8			GGAATAGAGGAGT	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.805C>A	9.37:g.114508596G>T	ENSP00000322108:p.Leu269Ile	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	75	15	NM_173521	0	0	1	1	0	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808895	0.31961	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.62	3.71	0.42584	.	0.240458	0.21614	N	0.071745	T	0.47040	0.1424	L	0.32530	0.975	0.09310	N	1	B;B;D;D	0.59767	0.077;0.253;0.961;0.986	B;B;P;P	0.55713	0.046;0.105;0.689;0.782	T	0.26467	-1.0102	10	0.33940	T	0.23	-1.266	9.837	0.40975	0.0:0.0:0.7953:0.2047	.	230;333;269;230	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	I	230;230;269;269;333	ENSP00000378259:L230I;ENSP00000378257:L230I;ENSP00000363405:L269I;ENSP00000322108:L269I;ENSP00000363401:L333I	ENSP00000322108:L269I	L	-	1	2	C9orf84	113548417	0.042000	0.20092	0.002000	0.10522	0.001000	0.01503	1.040000	0.30278	1.132000	0.42129	0.591000	0.81541	CTA	.		0.343	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		T	114508596	G	T	114508596	3	4	9	1	0	0	0	0	1	0	0	0	2507	933	33	3	3605	3	C9orf84	9	114508596	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	114812	114508596	26704835	366	1953											
AMBP	259	broad.mit.edu	37	chr9	116840418	116840418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttggatgttgtcgggcggCgttggcacagggccagcgct	17	10	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:116840418C>A	ENST00000265132.3	-	1	334	c.72G>T	c.(70-72)acG>acT	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					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)	TGTCGGGCGGCGTTGGCACAG	0.617																																					p.T24T		.											.	AMBP-91	0			c.G72T						.						108	118	114					9																	116840418		2203	4300	6503	SO:0001819	synonymous_variant	259	exon1			GGGCGGCGTTGGC	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.72G>T	9.37:g.116840418C>A		Somatic	75	1		WXS	Illumina GAIIx	Phase_I	114	12	NM_001633	0	0	1	1	0	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	CCDS6800.1																																																																																			.		0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		A	116840418	C	A	116840418	2	1	9	1	0	0	0	0	0	0	0	1	564	755	27	2		2	AMBP	9	116840418	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2331822	116840418	24373013	367	1954											
PAPPA	5069	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	118950037	118950037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacacagaggtcattgccagCtacaatcagctctcaagttt	7	11	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:118950037C>A	ENST00000328252.3	+	2	1389	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	340	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCATTGCCAGCTACAATCAGC	0.552																																					p.S340R		.											.	PAPPA-77	0			c.C1020A						.						69	64	65					9																	118950037		2203	4300	6503	SO:0001583	missense	5069	exon2			TGCCAGCTACAAT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1020C>A	9.37:g.118950037C>A	ENSP00000330658:p.Ser340Arg	Somatic	130	2		WXS	Illumina GAIIx	Phase_I	160	36	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581484	0.28180	.	.	ENSG00000182752	ENST00000328252	T	0.50813	0.73	5.99	-0.0533	0.13818	.	0.254921	0.52532	D	0.000068	T	0.38692	0.1050	M	0.66939	2.045	0.80722	D	1	B	0.33583	0.418	B	0.24541	0.054	T	0.24297	-1.0164	10	0.49607	T	0.09	-11.0938	10.0905	0.42445	0.0:0.6079:0.0:0.3921	.	340	Q13219	PAPP1_HUMAN	R	340	ENSP00000330658:S340R	ENSP00000330658:S340R	S	+	3	2	PAPPA	117989858	1.000000	0.71417	0.722000	0.30670	0.100000	0.18952	2.196000	0.42686	-0.060000	0.13132	-0.137000	0.14449	AGC	.		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	118950037	C	A	118950037	3	1	9	1	0	0	0	0	1	0	0	0	11471	796	28	3	1026	3	PAPPA	9	118950037	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2109619	118950037	22263394	368	1955											
PSMD5	5711	broad.mit.edu	37	chr9	123580434	123580434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgagcccagggttggtttGcaatggcctgaaatggaagg	15	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:123580434G>T	ENST00000210313.3	-	10	1339	c.1265C>A	c.(1264-1266)gCa>gAa	p.A422E	PSMD5_ENST00000604848.1_Intron|PSMD5_ENST00000373904.5_Missense_Mutation_p.A379E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	422					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)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GGGTTGGTTTGCAATGGCCTG	0.433																																					p.A422E		.											.	PSMD5-90	0			c.C1265A						.						59	59	59					9																	123580434		2203	4300	6503	SO:0001583	missense	5711	exon10			TGGTTTGCAATGG	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.1265C>A	9.37:g.123580434G>T	ENSP00000210313:p.Ala422Glu	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	62	6	NM_005047	0	0	0	0	0	B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685266	0.88639	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.34275	1.37;1.37	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.046995	0.85682	D	0.000000	T	0.63792	0.2541	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60954	-0.7160	10	0.44086	T	0.13	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	379;422	B4DZM8;Q16401	.;PSMD5_HUMAN	E	422;379	ENSP00000210313:A422E;ENSP00000363011:A379E	ENSP00000210313:A422E	A	-	2	0	PSMD5	122620255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.512000	0.81728	2.832000	0.97577	0.655000	0.94253	GCA	.		0.433	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		T	123580434	G	T	123580434	3	4	9	1	0	0	0	0	1	0	0	0	12743	1319	46	3	253	3	PSMD5	9	123580434	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4630397	123580434	17632997	369	1956											
PHF19	26147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	123624881	123624881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgacccaggcttgctctttCctctcttacgcagctcagag	8	15	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:123624881C>A	ENST00000373896.3	-	11	1367	c.1115G>T	c.(1114-1116)gGa>gTa	p.G372V	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.G163V	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	372					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGCTCTTTCCTCTCTTACG	0.627																																					p.G372V		.											.	PHF19-136	0			c.G1115T						.						94	100	98					9																	123624881		2203	4300	6503	SO:0001583	missense	26147	exon11			CTCTTTCCTCTCT	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1115G>T	9.37:g.123624881C>A	ENSP00000363003:p.Gly372Val	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	105	24	NM_015651	0	0	4	4	0	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935712	0.52972	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.45276	1.93;0.91;0.9	4.54	4.54	0.55810	.	0.461733	0.21246	N	0.077736	T	0.47154	0.1430	L	0.34521	1.04	0.58432	D	0.999998	D	0.69078	0.997	D	0.63597	0.916	T	0.16837	-1.0389	10	0.17832	T	0.49	-5.4571	12.6485	0.56748	0.0:1.0:0.0:0.0	.	372	Q5T6S3	PHF19_HUMAN	V	372;372;163;163	ENSP00000363003:G372V;ENSP00000407433:G163V;ENSP00000395938:G163V	ENSP00000363003:G372V	G	-	2	0	PHF19	122664702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.755000	0.47540	2.348000	0.79779	0.462000	0.41574	GGA	.		0.627	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		A	123624881	C	A	123624881	3	1	9	1	0	0	0	0	1	0	0	0	11868	855	30	3	647	3	PHF19	9	123624881	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	44447	123624881	17588550	370	1957											
STXBP1	6812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	130427557	130427557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatgccctgctggctcagCtaatccaggacaagctcgat	9	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:130427557C>A	ENST00000373299.1	+	8	725	c.610C>A	c.(610-612)Cta>Ata	p.L204I	STXBP1_ENST00000373302.3_Missense_Mutation_p.L204I	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	204					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GCTGGCTCAGCTAATCCAGGA	0.547																																					p.L204I		.											.	STXBP1-91	0			c.C610A						.						226	184	198					9																	130427557		2203	4300	6503	SO:0001583	missense	6812	exon8			GCTCAGCTAATCC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.610C>A	9.37:g.130427557C>A	ENSP00000362396:p.Leu204Ile	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	133	22	NM_001032221	0	0	13	15	2	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560278	0.45590	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.77489	-1.1;-1.1	5.34	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.47016	1.485	0.45554	D	0.998505	B;B	0.19583	0.037;0.03	B;B	0.21360	0.034;0.02	T	0.65619	-0.6124	10	0.46703	T	0.11	-23.946	6.0616	0.19841	0.0:0.665:0.1686:0.1664	.	204;204	P61764;P61764-2	STXB1_HUMAN;.	I	158;204;204	ENSP00000362399:L204I;ENSP00000362396:L204I	ENSP00000362396:L204I	L	+	1	2	STXBP1	129467378	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.870000	0.48451	2.510000	0.84645	0.561000	0.74099	CTA	.		0.547	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		A	130427557	C	A	130427557	3	1	9	1	0	0	0	0	1	0	0	0	15399	796	28	3	640	3	STXBP1	9	130427557	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6802676	130427557	10785874	371	1958											
TBC1D13	54662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131559410	131559410	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcctggacccccagaatGagtttgaaacccttcgtaag	8	12	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:131559410G>T	ENST00000372648.5	+	7	610	c.460G>T	c.(460-462)Gag>Tag	p.E154*	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Nonsense_Mutation_p.E154*	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	154	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCCCAGAATGAGTTTGAAAC	0.532																																					p.E154X		.											.	TBC1D13-90	0			c.G460T						.						116	116	116					9																	131559410		2203	4300	6503	SO:0001587	stop_gained	54662	exon7			CAGAATGAGTTTG	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.460G>T	9.37:g.131559410G>T	ENSP00000361731:p.Glu154*	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	133	39	NM_018201	0	0	20	23	3	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Nonsense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432872	0.62844	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	.	.	.	5.46	5.46	0.80206	.	0.108387	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-27.7855	18.2914	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000223865:E154X	E	+	1	0	TBC1D13	130599231	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.825000	0.86693	2.576000	0.86940	0.561000	0.74099	GAG	.		0.532	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		T	131559410	G	T	131559410	4	4	9	1	0	0	0	0	0	1	0	0	15649	1291	45	3	486	3	TBC1D13	9	131559410	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1131853	131559410	9654021	372	1959											
RAPGEF1	2889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	134501621	134501621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtatctgtctgctgccCtggggccagaggtccgtctg	15	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:134501621C>A	ENST00000372189.3	-	10	1462	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G465W|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G464W	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	447					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTCTGCTGCCCTGGGGCCAGA	0.657																																					p.G465W		.											.	RAPGEF1-849	0			c.G1393T						.						24	29	27					9																	134501621		1996	4157	6153	SO:0001583	missense	2889	exon10			GCTGCCCTGGGGC	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1339G>T	9.37:g.134501621C>A	ENSP00000361263:p.Gly447Trp	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	172	51	NM_198679	0	0	18	22	4	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301363	0.60195	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.29142	1.58;1.59;1.59	4.2	3.28	0.37604	.	0.568272	0.15860	N	0.241041	T	0.24353	0.0590	N	0.08118	0	0.22199	N	0.999291	D;P;P	0.52996	0.957;0.926;0.956	P;P;P	0.52267	0.497;0.497;0.694	T	0.06625	-1.0816	10	0.62326	D	0.03	.	10.7544	0.46228	0.0:0.9063:0.0:0.0937	.	464;447;465	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	W	447;464;341;447;465;427;373;142;464	ENSP00000361269:G464W;ENSP00000361263:G447W;ENSP00000361264:G465W	ENSP00000266110:G447W	G	-	1	0	RAPGEF1	133491442	0.014000	0.17966	0.813000	0.32504	0.827000	0.46813	0.238000	0.18004	2.060000	0.61445	0.655000	0.94253	GGG	.		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		A	134501621	C	A	134501621	3	1	9	1	0	0	0	0	1	0	0	0	13088	681	24	3	1954	3	RAPGEF1	9	134501621	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2942211	134501621	6711810	373	1960											
VAV2	7410	broad.mit.edu;bcgsc.ca	37	chr9	136648640	136648640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgaacttgcagggagGtatcacttccaggcactcct	9	13	2	1	rs374011637		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr9:136648640G>T	ENST00000371850.3	-	19	1739	c.1708C>A	c.(1708-1710)Cct>Act	p.P570T	VAV2_ENST00000406606.3_Missense_Mutation_p.P560T|VAV2_ENST00000371851.1_Missense_Mutation_p.P560T	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	570					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TTGCAGGGAGGTATCACTTCC	0.647																																					p.P570T		.											.	VAV2-1273	0			c.C1708A						.	G	THR/PRO,THR/PRO	2,4404	4.2+/-10.8	0,2,2201	86	74	78		1708,1678	4.2	0.9	9		78	0,8600		0,0,4300	no	missense,missense	VAV2	NM_001134398.1,NM_003371.3	38,38	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign,benign	570/879,560/840	136648640	2,13004	2203	4300	6503	SO:0001583	missense	7410	exon19			AGGGAGGTATCAC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1708C>A	9.37:g.136648640G>T	ENSP00000360916:p.Pro570Thr	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	185	9	NM_001134398	0	0	38	38	0	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	7.697	0.692214	0.15039	4.54E-4	0.0	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.93189	-3.18;-3.18;-3.18	4.24	4.24	0.50183	Src homology-3 domain (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.114248	0.64402	D	0.000013	D	0.90089	0.6904	L	0.39245	1.2	0.39445	D	0.967317	B;B;B	0.18863	0.003;0.031;0.003	B;B;B	0.17098	0.01;0.017;0.01	D	0.87723	0.2574	10	0.39692	T	0.17	.	16.9912	0.86354	0.0:0.0:1.0:0.0	.	560;570;560	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	T	570;560;560;560	ENSP00000360916:P570T;ENSP00000360917:P560T;ENSP00000385362:P560T	ENSP00000317258:P560T	P	-	1	0	VAV2	135638461	1.000000	0.71417	0.934000	0.37439	0.132000	0.20833	6.587000	0.74071	2.076000	0.62316	0.313000	0.20887	CCT	.		0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			T	136648640	G	T	136648640	3	4	9	1	0	0	0	0	1	0	0	0	17181	1261	44	3	976	3	VAV2	9	136648640	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2147019	136648640	4564791	374	1961											
SFMBT2	57713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7214601	7214601	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggggggcttggagatcttCtttctctttccatagtaata	10	7	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:7214601C>A	ENST00000361972.4	-	18	2097	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K669N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	669					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						TGGAGATCTTCTTTCTCTTTC	0.502																																					p.K669N		.											.	SFMBT2-141	0			c.G2007T						.						47	56	53					10																	7214601		2203	4300	6503	SO:0001583	missense	57713	exon18			GATCTTCTTTCTC	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.2007G>T	10.37:g.7214601C>A	ENSP00000355109:p.Lys669Asn	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	22	9	NM_001029880	0	0	0	0	0	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153162	0.38021	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.18016	2.24;2.24	5.37	2.44	0.29823	.	0.364056	0.33161	N	0.005218	T	0.15998	0.0385	L	0.55481	1.735	0.80722	D	1	B	0.31383	0.321	B	0.29353	0.101	T	0.04664	-1.0935	10	0.72032	D	0.01	.	9.2549	0.37577	0.0:0.6389:0.0:0.3611	.	669	Q5VUG0	SMBT2_HUMAN	N	669	ENSP00000355109:K669N;ENSP00000380353:K669N	ENSP00000355109:K669N	K	-	3	2	SFMBT2	7254607	0.997000	0.39634	0.997000	0.53966	0.439000	0.31926	0.885000	0.28227	0.622000	0.30249	-0.350000	0.07774	AAG	.		0.502	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7214601	C	A	7214601	3	1	9	1	0	0	0	0	1	0	0	0	14203	912	32	3	693	3	SFMBT2	10	7214601	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		7214601	128320146	375	1962											
GATA3	2625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	8115981	8115981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatggtcaccgccatgGgttagagccctgctcgatgc	12	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:8115981G>T	ENST00000346208.3	+	6	1782	c.1327G>T	c.(1327-1329)Ggt>Tgt	p.G443C	GATA3_ENST00000379328.3_Missense_Mutation_p.G444C|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	443					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						CACCGCCATGGGTTAGAGCCC	0.612			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.G444C		.		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	GATA3-1004	0			c.G1330T						.						69	58	62					10																	8115981		2203	4300	6503	SO:0001583	missense	2625	exon6			GCCATGGGTTAGA	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.1327G>T	10.37:g.8115981G>T	ENSP00000341619:p.Gly443Cys	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	64	26	NM_001002295	0	0	1	1	0	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462438	0.63513	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.98732	-5.1;-5.05	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99930	1.1312	10	0.87932	D	0	-16.2764	19.5966	0.95541	0.0:0.0:1.0:0.0	.	443;444	P23771;P23771-2	GATA3_HUMAN;.	C	444;443	ENSP00000368632:G444C;ENSP00000341619:G443C	ENSP00000341619:G443C	G	+	1	0	GATA3	8155987	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	9.480000	0.97931	2.622000	0.88805	0.561000	0.74099	GGT	.		0.612	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8115981	G	T	8115981	3	4	9	1	0	0	0	0	1	0	0	0	6280	1232	43	3	1348	3	GATA3	10	8115981	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	901380	8115981	127418766	376	1963											
DHTKD1	55526	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	12148305	12148305	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaatatgggatgagcattGagagcccaaagttactgccc	11	8	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:12148305G>T	ENST00000263035.4	+	11	2019	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	653					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATGAGCATTGAGAGCCCAAA	0.512																																					p.E653X		.											.	DHTKD1-515	0			c.G1957T						.						191	167	175					10																	12148305		2203	4300	6503	SO:0001587	stop_gained	55526	exon11			AGCATTGAGAGCC	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.1957G>T	10.37:g.12148305G>T	ENSP00000263035:p.Glu653*	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	120	55	NM_018706	0	0	2	2	0	Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.406784	0.98265	.	.	ENSG00000181192	ENST00000263035	.	.	.	6.01	6.01	0.97437	.	0.210676	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.241	18.764	0.91865	0.0:0.0:1.0:0.0	.	.	.	.	X	653	.	ENSP00000263035:E653X	E	+	1	0	DHTKD1	12188311	1.000000	0.71417	0.969000	0.41365	0.533000	0.34776	8.926000	0.92839	2.870000	0.98441	0.638000	0.83543	GAG	.		0.512	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		T	12148305	G	T	12148305	4	4	9	1	0	0	0	0	0	1	0	0	4514	1291	45	3	1999	3	DHTKD1	10	12148305	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4032324	12148305	123386442	377	1964											
MLLT10	8028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	21962834	21962834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcctcagtgttggctcatCtccagttggttcaggtaggg	14	9	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:21962834C>A	ENST00000307729.7	+	11	1785	c.1607C>A	c.(1606-1608)tCt>tAt	p.S536Y	MLLT10_ENST00000377072.3_Missense_Mutation_p.S536Y|MLLT10_ENST00000446906.2_Missense_Mutation_p.S536Y|MLLT10_ENST00000377059.3_Missense_Mutation_p.S536Y			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	536	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTTGGCTCATCTCCAGTTGGT	0.453			T	"MLL, PICALM, CDK6"	AL																																p.S536Y		.		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	.	MLLT10-658	0			c.C1607A						.						78	75	76					10																	21962834		2202	4300	6502	SO:0001583	missense	8028	exon10			GCTCATCTCCAGT	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1607C>A	10.37:g.21962834C>A	ENSP00000307411:p.Ser536Tyr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	43	7	NM_001195626	0	0	0	0	0	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874691|3.874691	0.72180|0.72180	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000420525|ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.|T;T;T;T	.|0.20200	.|2.27;2.1;2.09;2.1	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.580033	.|0.19466	.|N	.|0.113562	T|T	0.45256|0.45256	0.1333|0.1333	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.99;0.998	.|D;D;D;D	.|0.83275	.|0.996;0.991;0.974;0.993	T|T	0.35251|0.35251	-0.9796|-0.9796	5|10	.|0.72032	.|D	.|0.01	.|.	18.9503|18.9503	0.92638|0.92638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|382;536;536;536	.|F5H541;E9PBP4;Q5VX90;P55197	.|.;.;.;AF10_HUMAN	I|Y	110|536;536;536;382;536;179;178	.|ENSP00000366272:S536Y;ENSP00000401406:S536Y;ENSP00000307411:S536Y;ENSP00000366258:S536Y	.|ENSP00000307411:S536Y	L|S	+|+	1|2	0|0	MLLT10|MLLT10	22002840|22002840	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	6.516000|6.516000	0.73755|0.73755	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	CTC|TCT	.		0.453	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			A	21962834	C	A	21962834	3	1	9	1	0	0	0	0	1	0	0	0	9664	913	32	3	1645	3	MLLT10	10	21962834	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9814529	21962834	113571913	378	1965											
BMI1	648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	22618192	22618192	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgacctacttgtaaaagaatGaagatcagtcaccagagaga	9	8	2	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:22618192G>T	ENST00000376663.3	+	10	1207	c.702G>T	c.(700-702)atG>atT	p.M234I	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.M377I	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	234					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTAAAAGAATGAAGATCAGTC	0.398																																					p.M377I		.											.	.	0			c.G1131T						.						50	50	50					10																	22618192		2203	4300	6503	SO:0001583	missense	0	exon14			AAGAATGAAGATC	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.702G>T	10.37:g.22618192G>T	ENSP00000365851:p.Met234Ile	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	29	8	NM_001204062	0	0	5	12	7	Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199722	0.58126	.	.	ENSG00000168283	ENST00000376691;ENST00000376663;ENST00000443519	T;T	0.41065	1.59;1.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05484	-1.0882	10	0.36615	T	0.2	-15.4859	19.4021	0.94634	0.0:0.0:1.0:0.0	.	234;234	Q5U0M5;P35226	.;BMI1_HUMAN	I	146;234;139	ENSP00000365851:M234I;ENSP00000390768:M139I	ENSP00000365851:M234I	M	+	3	0	BMI1	22658198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.588000	0.82629	2.685000	0.91497	0.650000	0.86243	ATG	.		0.398	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		T	22618192	G	T	22618192	3	4	9	1	0	0	0	0	1	0	0	0	1457	1290	45	3	736	3	BMI1	10	22618192	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	655358	22618192	112916555	379	1966											
GPR158	57512	ucsc.edu;bcgsc.ca	37	chr10	25839971	25839971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagatgggctcgtcttctcGgttttgctactgtttacgga	11	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:25839971G>T	ENST00000376351.3	+	6	1830	c.1471G>T	c.(1471-1473)Ggt>Tgt	p.G491C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	491					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCGTCTTCTCGGTTTTGCTAC	0.403																																					p.G491C		.											.	GPR158-141	0			c.G1471T						.						295	254	268					10																	25839971		2203	4300	6503	SO:0001583	missense	57512	exon6			CTTCTCGGTTTTG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1471G>T	10.37:g.25839971G>T	ENSP00000365529:p.Gly491Cys	Somatic	167	2		WXS	Illumina GAIIx	Phase_I	131	24	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761423	0.89932	.	.	ENSG00000151025	ENST00000376351	D	0.89681	-2.55	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96120	0.9084	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	491	Q5T848	GP158_HUMAN	C	491	ENSP00000365529:G491C	ENSP00000365529:G491C	G	+	1	0	GPR158	25879977	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.093000	0.94163	2.724000	0.93272	0.650000	0.86243	GGT	.		0.403	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25839971	G	T	25839971	3	4	9	1	0	0	0	0	1	0	0	0	6689	1116	39	2	1493	2	GPR158	10	25839971	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3221779	25839971	109694776	380	1967											
SVIL	6840	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	29818653	29818653	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggctgcgatgaccacctCttcagtggtgatgggctggg	16	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:29818653C>A	ENST00000355867.4	-	12	2979	c.2227G>T	c.(2227-2229)Gag>Tag	p.E743*	SVIL_ENST00000375398.2_Nonsense_Mutation_p.E743*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.E349*	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	743					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATGACCACCTCTTCAGTGGTG	0.468																																					p.E743X		.											.	SVIL-96	0			c.G2227T						.						113	99	103					10																	29818653		2203	4300	6503	SO:0001587	stop_gained	6840	exon12			CCACCTCTTCAGT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2227G>T	10.37:g.29818653C>A	ENSP00000348128:p.Glu743*	Somatic	50	1		WXS	Illumina GAIIx	Phase_I	44	17	NM_021738	0	0	0	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Nonsense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	47	13.800612	0.99763	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.9095	19.571	0.95419	0.0:1.0:0.0:0.0	.	.	.	.	X	349;743;743	.	.	E	-	1	0	SVIL	29858659	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.354000	0.79424	2.709000	0.92574	0.655000	0.94253	GAG	.		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29818653	C	A	29818653	4	1	9	1	0	0	0	0	0	1	0	0	15468	922	32	3	4525	3	SVIL	10	29818653	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3978682	29818653	105716094	381	1968											
GJD4	219770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	35897531	35897531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgctccccacctgagaGccaggaagtctgagtgggtg	16	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:35897531G>T	ENST00000321660.1	+	2	1248	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	364					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						CCACCTGAGAGCCAGGAAGTC	0.682																																					p.A364S		.											.	GJD4-155	0			c.G1090T						.						5	6	5					10																	35897531		2040	4067	6107	SO:0001583	missense	219770	exon2			CTGAGAGCCAGGA	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.1090G>T	10.37:g.35897531G>T	ENSP00000315070:p.Ala364Ser	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	158	10	NM_153368	0	0	0	0	0	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	1.212	-0.629509	0.03610	.	.	ENSG00000177291	ENST00000321660	D	0.97976	-4.64	4.91	-6.12	0.02124	.	0.625324	0.14650	N	0.306644	D	0.91670	0.7367	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.16289	0.015	T	0.82719	-0.0318	10	0.42905	T	0.14	.	7.4438	0.27198	0.1614:0.0:0.5056:0.333	.	364	Q96KN9	CXD4_HUMAN	S	364	ENSP00000315070:A364S	ENSP00000315070:A364S	A	+	1	0	GJD4	35937537	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	-1.438000	0.02416	-0.708000	0.05015	-1.130000	0.01982	GCC	.		0.682	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		T	35897531	G	T	35897531	3	4	9	1	0	0	0	0	1	0	0	0	6445	971	34	3	1096	3	GJD4	10	35897531	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6078878	35897531	99637216	382	1969											
BMS1	9790	broad.mit.edu	37	chr10	43292520	43292520	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaagaagactcagaaaatGaagaggctattagaaaaaag	11	3	1	6	rs146520651		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:43292520G>T	ENST00000374518.5	+	10	1891	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	610					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCAGAAAATGAAGAGGCTAT	0.428																																					p.E610X		.											.	BMS1-93	0			c.G1828T						.						56	59	58					10																	43292520		2202	4300	6502	SO:0001587	stop_gained	9790	exon10			GAAAATGAAGAGG	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1828G>T	10.37:g.43292520G>T	ENSP00000363642:p.Glu610*	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	98	4	NM_014753	0	0	7	7	0	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.192101	0.78902	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.79	1.19	0.21007	.	0.456125	0.25453	N	0.030579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	4.7783	0.13190	0.1007:0.1365:0.6217:0.1411	.	.	.	.	X	610	.	ENSP00000363642:E610X	E	+	1	0	BMS1	42612526	0.978000	0.34361	0.000000	0.03702	0.145000	0.21501	1.511000	0.35801	0.014000	0.14944	-0.282000	0.10007	GAA	G|1.000;C|0.000		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		T	43292520	G	T	43292520	4	4	9	1	0	0	0	0	0	1	0	0	1474	1291	45	3	1862	3	BMS1	10	43292520	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7394989	43292520	92242227	383	1970											
C10orf71	118461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	50531426	50531426	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaaatagtgcttttgagtCatggaatgcccaccaaccaa	8	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:50531426C>A	ENST00000374144.3	+	3	1124	c.836C>A	c.(835-837)tCa>tAa	p.S279*	C10orf71_ENST00000323868.4_Nonsense_Mutation_p.S279*			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	279										endometrium(1)	1						GCTTTTGAGTCATGGAATGCC	0.527																																					p.S279X		.											.	C10orf71-90	0			c.C836A						.						63	73	70					10																	50531426		2021	4198	6219	SO:0001587	stop_gained	118461	exon3			TTGAGTCATGGAA	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.836C>A	10.37:g.50531426C>A	ENSP00000363259:p.Ser279*	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	136	38	NM_001135196	0	0	0	0	0	A0AVL8	Nonsense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284978	0.97440	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	.	.	.	5.4	5.4	0.78164	.	0.000000	0.41605	D	0.000841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1656	0.93555	0.0:1.0:0.0:0.0	.	.	.	.	X	279	.	ENSP00000318713:S279X	S	+	2	0	C10orf71	50201432	0.999000	0.42202	0.978000	0.43139	0.523000	0.34469	4.482000	0.60257	2.530000	0.85305	0.561000	0.74099	TCA	.		0.527	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50531426	C	A	50531426	4	1	9	1	0	0	0	0	0	1	0	0	1619	838	29	3	838	3	C10orf71	10	50531426	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7238906	50531426	85003321	384	1971											
AGAP7	653268	bcgsc.ca	37	chr10	51464918	51464918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttggctaggtcattgCcaatagatgacataaccttc	9	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:51464918C>A	ENST00000374095.5	-	7	1663	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		513	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TAGGTCATTGCCAATAGATGA	0.562																																					p.G513V		.											.	.	0			c.G1538T						.						52	66	61					10																	51464918		2197	4294	6491	SO:0001583	missense	653268	exon7			TCATTGCCAATAG																												ENST00000374095.5:c.1538G>T	10.37:g.51464918C>A	ENSP00000363208:p.Gly513Val	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	116	16	NM_001077685	0	0	9	17	8	A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142973	0.37825	.	.	ENSG00000204169	ENST00000374095	T	0.70045	-0.45	.	.	.	.	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82526	-0.0413	9	0.66056	D	0.02	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	513	Q5VUJ5	AGAP7_HUMAN	V	513	ENSP00000363208:G513V	ENSP00000363208:G513V	G	-	2	0	AGAP7	51134924	1.000000	0.71417	0.015000	0.15790	0.016000	0.09150	5.227000	0.65305	0.172000	0.19760	0.175000	0.17021	GGC	.		0.562	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			A	51464918	C	A	51464918	3	1	9	1	0	0	0	0	1	0	0	0	373	739	26	3	457	3	AGAP7	10	51464918	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	933492	51464918	84069829	385	1972											
DKK1	22943	broad.mit.edu	37	chr10	54076186	54076186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttgtcttcaaaaatgtatCacaccaaaggtaaggatgtt	7	8	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:54076186C>A	ENST00000373970.3	+	3	677	c.538C>A	c.(538-540)Cac>Aac	p.H180N	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	180					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAAAATGTATCACACCAAAGG	0.378																																					p.H180N		.											.	DKK1-1083	0			c.C538A						.						91	85	87					10																	54076186		2203	4300	6503	SO:0001583	missense	22943	exon3			ATGTATCACACCA		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.538C>A	10.37:g.54076186C>A	ENSP00000363081:p.His180Asn	Somatic	124	1		WXS	Illumina GAIIx	Phase_I	102	4	NM_012242	0	0	0	0	0	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230227	0.22542	.	.	ENSG00000107984	ENST00000373970	T	0.42131	0.98	5.09	5.09	0.68999	.	0.498801	0.21970	N	0.066474	T	0.34395	0.0896	L	0.43152	1.355	0.30807	N	0.739224	P	0.48230	0.907	B	0.44224	0.444	T	0.18524	-1.0334	10	0.16420	T	0.52	-6.3943	9.5527	0.39319	0.1568:0.6911:0.1521:0.0	.	180	O94907	DKK1_HUMAN	N	180	ENSP00000363081:H180N	ENSP00000363081:H180N	H	+	1	0	DKK1	53746192	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.247000	0.51422	2.756000	0.94617	0.561000	0.74099	CAC	.		0.378	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			A	54076186	C	A	54076186	3	1	9	1	0	0	0	0	1	0	0	0	4558	826	29	3	548	3	DKK1	10	54076186	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2611268	54076186	81458561	386	1973											
ARID5B	84159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	63845627	63845627	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaaaagcaagaaagaaaaaGaaaatgccccaaagccccag	7	10	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:63845627G>T	ENST00000279873.7	+	9	1776	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E213*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	456					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAGAAAAAGAAAATGCCCC	0.448																																					p.E456X		.											.	ARID5B-94	0			c.G1366T						.						112	120	117					10																	63845627		2203	4300	6503	SO:0001587	stop_gained	84159	exon9			GAAAAAGAAAATG	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1366G>T	10.37:g.63845627G>T	ENSP00000279873:p.Glu456*	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	18	10	NM_032199	0	0	1	3	2	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Nonsense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	42	9.692527	0.99240	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.77	5.77	0.91146	.	0.481200	0.24604	N	0.037116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-27.28	18.5274	0.90978	0.0:0.0:1.0:0.0	.	.	.	.	X	456;213	.	ENSP00000279873:E456X	E	+	1	0	ARID5B	63515633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.884000	0.98904	0.655000	0.94253	GAA	.		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63845627	G	T	63845627	4	4	9	1	0	0	0	0	0	1	0	0	922	943	33	3	1400	3	ARID5B	10	63845627	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9769441	63845627	71689120	387	1974											
CDH23	64072	broad.mit.edu	37	chr10	73437259	73437259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatgctgattgccaggCtggactatgagctcatccag	10	11	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:73437259C>A	ENST00000224721.6	+	15	1581	c.1576C>A	c.(1576-1578)Ctg>Atg	p.L526M	CDH23_ENST00000299366.7_Missense_Mutation_p.L566M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATTGCCAGGCTGGACTATGA	0.582																																					p.L521M		.											.	CDH23-563	0			c.C1561A						.						39	41	40					10																	73437259		2089	4213	6302	SO:0001583	missense	64072	exon15			GCCAGGCTGGACT	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.1576C>A	10.37:g.73437259C>A	ENSP00000224721:p.Leu526Met	Somatic	131	1		WXS	Illumina GAIIx	Phase_I	84	6	NM_022124	0	0	2	2	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847310	0.71603	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.51	4.6	0.57074	Cadherin (5);Cadherin-like (1);	0.000000	0.56097	D	0.000036	T	0.80059	0.4554	M	0.87827	2.91	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	T	0.82645	-0.0355	9	0.87932	D	0	.	10.8162	0.46578	0.0:0.8535:0.0:0.1465	.	521;524;521	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	M	526;521;521;524;524;38	.	ENSP00000224721:L526M	L	+	1	2	CDH23	73107265	0.980000	0.34600	0.893000	0.35052	0.904000	0.53231	2.537000	0.45702	1.306000	0.44926	0.650000	0.86243	CTG	.		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73437259	C	A	73437259	3	1	9	1	0	0	0	0	1	0	0	0	3115	796	28	3	1846	3	CDH23	10	73437259	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9591632	73437259	62097488	388	1975											
SEC24C	9632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75528805	75528805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggagctttctacatgagCaacacgacagatgtggagct	11	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:75528805C>A	ENST00000339365.2	+	18	2481	c.2319C>A	c.(2317-2319)agC>agA	p.S773R	SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.S654R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S21R|SEC24C_ENST00000540668.1_Missense_Mutation_p.S21R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S773R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	773					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCTACATGAGCAACACGACAG	0.522																																					p.S773R		.											.	SEC24C-92	0			c.C2319A						.						98	86	90					10																	75528805		2203	4300	6503	SO:0001583	missense	9632	exon17			CATGAGCAACACG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2319C>A	10.37:g.75528805C>A	ENSP00000343405:p.Ser773Arg	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	97	46	NM_198597	0	0	17	22	5	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780725	0.70222	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.72	4.82	0.62117	Sec23/Sec24 beta-sandwich (1);	0.071575	0.85682	D	0.000000	T	0.09992	0.0245	N	0.03209	-0.39	0.80722	D	1	B;P;P	0.36616	0.172;0.505;0.561	B;B;B	0.39805	0.061;0.147;0.31	T	0.11542	-1.0583	10	0.02654	T	1	-7.6066	14.5721	0.68218	0.0:0.9298:0.0:0.0702	.	654;773;773	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	21;773;21;773;654	ENSP00000446174:S21R;ENSP00000321845:S773R;ENSP00000445023:S21R;ENSP00000343405:S773R;ENSP00000402913:S654R	ENSP00000343405:S773R	S	+	3	2	SEC24C	75198811	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.085000	0.41634	1.425000	0.47237	0.467000	0.42956	AGC	.		0.522	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75528805	C	A	75528805	3	1	9	1	0	0	0	0	1	0	0	0	14041	709	25	3	2381	3	SEC24C	10	75528805	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2091546	75528805	60005942	389	1976											
KCNMA1	3778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	78761184	78761184	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcacggaaactggtggaGcaatcattaacagagacaga	12	8	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:78761184G>T	ENST00000286628.8	-	19	2246	c.2247C>A	c.(2245-2247)tgC>tgA	p.C749*	KCNMA1_ENST00000372443.1_Intron|KCNMA1_ENST00000354353.5_Intron|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.C753*|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.C749*	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	749					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)	AACTGGTGGAGCAATCATTAA	0.507																																					p.C749X		.											.	KCNMA1-93	0			c.C2247A						.						145	118	126					10																	78761184		692	1591	2283	SO:0001587	stop_gained	3778	exon19			GGTGGAGCAATCA	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.2247C>A	10.37:g.78761184G>T	ENSP00000286628:p.Cys749*	Somatic	208	2		WXS	Illumina GAIIx	Phase_I	152	19	NM_001161352	0	0	0	0	0	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	ENST00000286628.8	37		.	.	.	.	.	.	.	.	.	.	G	39	7.290932	0.98189	.	.	ENSG00000156113	ENST00000372437;ENST00000457953;ENST00000404771;ENST00000286628;ENST00000406533	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.541	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	684;723;686;723;753	.	ENSP00000286628:C723X	C	-	3	2	KCNMA1	78431190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TGC	.		0.507	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		T	78761184	G	T	78761184	4	4	9	1	0	0	0	0	0	1	0	0	8100	963	34	3	1659	3	KCNMA1	10	78761184	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3232379	78761184	56773563	390	1977											
CYP2C9	1559	bcgsc.ca	37	chr10	96748656	96748656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcatggagctgtttttattCctgacctccattttacagaa	8	9	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:96748656C>A	ENST00000260682.6	+	9	1356	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	448					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTTTTTATTCCTGACCTCCA	0.473																																					p.F448L	Ovarian(54;1266 1406 16072 35076)	.											.	CYP2C9-96	0			c.C1344A						.						159	149	153					10																	96748656		2203	4300	6503	SO:0001583	missense	1559	exon9			TTTATTCCTGACC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1344C>A	10.37:g.96748656C>A	ENSP00000260682:p.Phe448Leu	Somatic	141	4		WXS	Illumina GAIIx	Phase_I	96	46	NM_000771	0	0	0	0	0	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	6.828	0.521979	0.13005	.	.	ENSG00000138109	ENST00000260682	T	0.68765	-0.35	3.42	0.48	0.16804	.	0.073236	0.56097	U	0.000039	T	0.56124	0.1964	L	0.48642	1.525	0.28002	N	0.935233	B;B	0.33280	0.405;0.405	B;B	0.37692	0.256;0.256	T	0.50833	-0.8781	10	0.42905	T	0.14	.	7.1583	0.25649	0.0:0.6589:0.0:0.3411	.	448;448	Q5VX92;P11712	.;CP2C9_HUMAN	L	448	ENSP00000260682:F448L	ENSP00000260682:F448L	F	+	3	2	CYP2C9	96738646	0.007000	0.16637	0.997000	0.53966	0.044000	0.14063	-0.094000	0.11094	0.284000	0.22305	-0.373000	0.07131	TTC	.		0.473	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		A	96748656	C	A	96748656	3	1	9	1	0	0	0	0	1	0	0	0	4177	854	30	3	1378	3	CYP2C9	10	96748656	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	17987472	96748656	38786091	391	1978											
RRP12	23223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	99126277	99126277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccctctttcagccatgccCggctcctctgtcgtgccagc	9	19	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:99126277C>A	ENST00000370992.4	-	28	3428	c.3317G>T	c.(3316-3318)cGg>cTg	p.R1106L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.R1045L|RRP12_ENST00000536831.1_Missense_Mutation_p.R824L|RRP12_ENST00000315563.6_Missense_Mutation_p.R1006L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1106						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGCCATGCCCGGCTCCTCTG	0.602																																					p.R1106L		.											.	RRP12-92	0			c.G3317T						.						105	100	102					10																	99126277		2203	4300	6503	SO:0001583	missense	23223	exon28			CATGCCCGGCTCC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3317G>T	10.37:g.99126277C>A	ENSP00000360031:p.Arg1106Leu	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	58	10	NM_015179	0	0	56	60	4	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891263	0.17613	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.5;1.5;1.49;1.49	5.2	0.816	0.18768	.	0.393546	0.29093	N	0.013167	T	0.20700	0.0498	L	0.44542	1.39	0.27288	N	0.957926	P;B;P;B	0.38455	0.61;0.218;0.632;0.098	B;B;B;B	0.31442	0.082;0.052;0.13;0.038	T	0.08680	-1.0710	10	0.30078	T	0.28	-5.6395	11.0801	0.48055	0.0:0.5053:0.0:0.4947	.	1045;1006;824;1106	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	1106;1006;1045;824	ENSP00000360031:R1106L;ENSP00000324315:R1006L;ENSP00000414863:R1045L;ENSP00000446184:R824L	ENSP00000324315:R1006L	R	-	2	0	RRP12	99116267	0.243000	0.23878	0.054000	0.19295	0.246000	0.25737	0.297000	0.19101	-0.395000	0.07715	-2.303000	0.00259	CGG	.		0.602	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99126277	C	A	99126277	3	1	9	1	0	0	0	0	1	0	0	0	13731	652	23	2	604	2	RRP12	10	99126277	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2377621	99126277	36408470	392	1979											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001077494	0	0	0	9	9	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	9	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	5032919	104159196	31375551	393	1980											
AS3MT	57412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	104638614	104638614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctatttttaggtgactgtCgttttgtttctgcaacattt	7	6	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:104638614C>A	ENST00000369880.3	+	9	828	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	251					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGGTGACTGTCGTTTTGTTTC	0.413																																					p.R251S		.											.	AS3MT-44	0			c.C751A						.						140	128	132					10																	104638614		1908	4132	6040	SO:0001583	missense	57412	exon9			GACTGTCGTTTTG	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.751C>A	10.37:g.104638614C>A	ENSP00000358896:p.Arg251Ser	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	96	17	NM_020682	0	0	15	20	5	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613357	0.28712	.	.	ENSG00000214435	ENST00000369880	T	0.21361	2.01	5.48	3.65	0.41850	.	0.256445	0.39083	N	0.001468	T	0.17066	0.0410	L	0.55213	1.73	0.32263	N	0.5698449999999999	B;B;B	0.25850	0.134;0.136;0.136	B;B;B	0.20955	0.022;0.032;0.018	T	0.15350	-1.0440	9	0.26408	T	0.33	-3.6395	6.3165	0.21194	0.1474:0.6969:0.0:0.1558	.	251;251;251	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	S	251	ENSP00000358896:R251S	ENSP00000358896:R251S	R	+	1	0	AS3MT	104628604	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.632000	0.37102	0.691000	0.31592	-0.254000	0.11334	CGT	.		0.413	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		A	104638614	C	A	104638614	3	1	9	1	0	0	0	0	1	0	0	0	1006	884	31	2	785	2	AS3MT	10	104638614	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	479418	104638614	30896133	394	1981											
C10orf96	374355	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	118101581	118101581	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaaatgatagaggaggaaGacaaatttattaaggaaatt	9	2	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:118101581G>T	ENST00000333254.3	+	5	567	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	106																	AGAGGAGGAAGACAAATTTAT	0.244																																					p.D106Y		.											.	.	0			c.G316T						.						31	36	34					10																	118101581		2155	4243	6398	SO:0001583	missense	374355	exon5			GAGGAAGACAAAT	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.316G>T	10.37:g.118101581G>T	ENSP00000329860:p.Asp106Tyr	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	92	7	NM_198515	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628105	0.46944	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.44	0.53790	.	0.669254	0.15789	N	0.244558	T	0.48114	0.1482	N	0.14661	0.345	0.39041	D	0.960139	P	0.52692	0.955	P	0.51135	0.66	T	0.57929	-0.7726	9	0.87932	D	0	-20.576	15.9176	0.79535	0.0:0.1352:0.8648:0.0	.	106	P0C7W6	CJ096_HUMAN	Y	106	.	ENSP00000329860:D106Y	D	+	1	0	C10orf96	118091571	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	3.198000	0.51035	2.699000	0.92147	0.655000	0.94253	GAC	.		0.244	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		T	118101581	G	T	118101581	3	4	9	1	0	0	0	0	1	0	0	0	1632	942	33	3	330	3	C10orf96	10	118101581	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	13462967	118101581	17433166	395	1982											
TACC2	10579	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	123846988	123846988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccttgacacgcttggggGtgaaaggagacccggagtca	15	10	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:123846988G>T	ENST00000369005.1	+	4	5313	c.4973G>T	c.(4972-4974)gGt>gTt	p.G1658V	TACC2_ENST00000515603.1_Missense_Mutation_p.G1658V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G1658V|TACC2_ENST00000334433.3_Missense_Mutation_p.G1658V|TACC2_ENST00000453444.2_Missense_Mutation_p.G1658V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1658					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)				ACGCTTGGGGGTGAAAGGAGA	0.592																																					p.G1658V		.											.	TACC2-296	0			c.G4973T						.						59	57	58					10																	123846988		2203	4300	6503	SO:0001583	missense	10579	exon4			TTGGGGGTGAAAG	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.4973G>T	10.37:g.123846988G>T	ENSP00000358001:p.Gly1658Val	Somatic	216	2		WXS	Illumina GAIIx	Phase_I	165	35	NM_206862	0	0	0	0	0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747497	0.30955	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.15834	3.67;2.39;3.55;3.67;2.39	4.96	0.716	0.18191	.	0.479278	0.15706	N	0.248668	T	0.08714	0.0216	L	0.27053	0.805	0.21527	N	0.999653	P;P;P	0.44877	0.845;0.845;0.845	B;B;B	0.36719	0.231;0.231;0.231	T	0.23726	-1.0180	10	0.87932	D	0	-0.094	3.0737	0.06239	0.4154:0.2228:0.3618:0.0	.	1658;1658;1658	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	1658;1658;1658;1658;1658;1648	ENSP00000358001:G1658V;ENSP00000424467:G1658V;ENSP00000427618:G1658V;ENSP00000334280:G1658V;ENSP00000395048:G1658V	ENSP00000334280:G1658V	G	+	2	0	TACC2	123836978	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.117000	0.15583	0.221000	0.20879	0.643000	0.83706	GGT	.		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123846988	G	T	123846988	3	4	9	1	0	0	0	0	1	0	0	0	15549	1261	44	3	4983	3	TACC2	10	123846988	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5745407	123846988	11687759	396	1983											
MKI67	4288	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	129903482	129903482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcatgagtcgtgggcttgtCagtgcatattggtgtctgga	14	7	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:129903482C>A	ENST00000368654.3	-	13	6997	c.6622G>T	c.(6622-6624)Gac>Tac	p.D2208Y	MKI67_ENST00000368653.3_Missense_Mutation_p.D1848Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2208	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGGCTTGTCAGTGCATATT	0.502																																					p.D2208Y		.											.	MKI67-519	0			c.G6622T						.						228	219	222					10																	129903482		2203	4300	6503	SO:0001583	missense	4288	exon13			GCTTGTCAGTGCA	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.6622G>T	10.37:g.129903482C>A	ENSP00000357643:p.Asp2208Tyr	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	158	68	NM_002417	0	0	2	6	4	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067137	0.36470	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01369	4.99;4.97	3.23	-6.46	0.01908	.	2.310800	0.01830	N	0.034621	T	0.04861	0.0131	M	0.62723	1.935	0.09310	N	1	D;D;D	0.71674	0.976;0.998;0.99	P;D;P	0.64877	0.534;0.93;0.804	T	0.34254	-0.9836	10	0.62326	D	0.03	.	5.5411	0.17038	0.0:0.2719:0.3958:0.3323	.	2207;1848;2208	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	2208;1848;2207	ENSP00000357643:D2208Y;ENSP00000357642:D1848Y	ENSP00000357642:D1848Y	D	-	1	0	MKI67	129793472	0.204000	0.23447	0.000000	0.03702	0.008000	0.06430	0.783000	0.26802	-1.863000	0.01150	0.561000	0.74099	GAC	.		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129903482	C	A	129903482	3	1	9	1	0	0	0	0	1	0	0	0	9636	826	29	3	3160	3	MKI67	10	129903482	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6056494	129903482	5631265	397	1984											
MTG1	92170	hgsc.bcm.edu	37	chr10	135207754	135207754	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accccgcgcgcgctgtgcagCgccgcccaggccgcctggcg	15	20	0	0	rs374714619	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr10:135207754C>G	ENST00000317502.6	+	1	80	c.30C>G	c.(28-30)agC>agG	p.S10R	RP11-108K14.8_ENST00000468317.2_Intron|MTG1_ENST00000477902.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	10					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)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CGCTGTGCAGCGCCGCCCAGG	0.736													c|||	8	0.00159744	8e-04	0.0014	5008	,	,		12458	0		0.001	False		,,,				2504	0.0051				p.S10R		.											.	MTG1-91	0			c.C30G						.																																			SO:0001583	missense	92170	exon1			GTGCAGCGCCGCC		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.30C>G	10.37:g.135207754C>G	ENSP00000323047:p.Ser10Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	32	29	NM_138384	0	0	0	18	18	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.003780	0.35320	.	.	ENSG00000148824	ENST00000317502;ENST00000432508	T;T	0.46063	1.51;0.88	5.01	-0.646	0.11472	.	2.627820	0.01523	N	0.018456	T	0.23249	0.0562	N	0.14661	0.345	0.19300	N	0.99997	P	0.39847	0.691	B	0.32624	0.149	T	0.22312	-1.0220	10	0.66056	D	0.02	-16.7364	3.6892	0.08339	0.1691:0.4231:0.0:0.4078	.	10	Q9BT17	MTG1_HUMAN	R	10	ENSP00000323047:S10R;ENSP00000393480:S10R	ENSP00000323047:S10R	S	+	3	2	AL360181.1	135057744	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.139000	0.10358	0.145000	0.18977	0.563000	0.77884	AGC	.		0.736	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		G	135207754	C	G	135207754	3	3	9	1	0	0	0	0	1	0	0	0	9964	767	27	2	32	2	MTG1	10	135207754	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5304272	135207754	326993	398	1985											
MUC5B	727897	bcgsc.ca	37	chr11	1262202	1262202	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgagacgtttgaaaacctGaggcagagagggtaccaggt	14	6	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:1262202G>T	ENST00000529681.1	+	31	4150	c.4092G>T	c.(4090-4092)ctG>ctT	p.L1364L	MUC5B_ENST00000447027.1_Silent_p.L1367L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1364	7 X Cys-rich subdomain repeats.				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)		TTGAAAACCTGAGGCAGAGAG	0.662																																					p.L1364L		.											.	.	0			c.G4092T						.						40	48	46					11																	1262202		2073	4195	6268	SO:0001819	synonymous_variant	727897	exon31			AAACCTGAGGCAG	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.4092G>T	11.37:g.1262202G>T		Somatic	92	2		WXS	Illumina GAIIx	Phase_I	102	24	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1262202	G	T	1262202	2	4	9	1	0	0	0	0	0	0	0	1	10017	1277	45	3		3	MUC5B	11	1262202	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		1262202	133744314	399	1986											
OR51G1	79324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	4945010	4945010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctagagcaggccagcttcAtgatctccaggtgaagacaa	11	10	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:4945010A>G	ENST00000321961.2	-	1	627	c.560T>C	c.(559-561)aTg>aCg	p.M187T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCAGCTTCATGATCTCCAG	0.522																																					p.M187T		.											.	OR51G1-70	0			c.T560C						.						93	82	86					11																	4945010		2201	4298	6499	SO:0001583	missense	79324	exon1			AGCTTCATGATCT	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.560T>C	11.37:g.4945010A>G	ENSP00000322546:p.Met187Thr	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	89	15	NM_001005237	0	0	0	0	0	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241987	0.39598	.	.	ENSG00000176879	ENST00000321961	T	0.00099	8.73	4.41	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000218	T	0.00384	0.0012	M	0.70108	2.13	0.24888	N	0.992186	D	0.76494	0.999	D	0.76575	0.988	T	0.40175	-0.9577	10	0.87932	D	0	.	8.6867	0.34243	0.9073:0.0:0.0927:0.0	.	187	Q8NGK1	O51G1_HUMAN	T	187	ENSP00000322546:M187T	ENSP00000322546:M187T	M	-	2	0	OR51G1	4901586	0.036000	0.19791	1.000000	0.80357	0.779000	0.44077	2.640000	0.46579	0.736000	0.32559	0.455000	0.32223	ATG	.		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		G	4945010	A	G	4945010	3	3	9	1	0	0	0	0	1	0	0	0	11137	217	8	4	407	4	OR51G1	11	4945010	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	3682808	4945010	130061506	400	1987											
OR51B2	79345	bcgsc.ca	37	chr11	5345495	5345495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccctggaaagccagtcagCaaaaaaggggctgcagtaat	12	9	1	0	rs375227790	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5345495C>A	ENST00000328813.2	-	1	87	c.33G>T	c.(31-33)ttG>ttT	p.L11F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCAGTCAGCAAAAAAGGGG	0.493											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L11F		.											.	OR51B2-71	0			c.G33T						.						43	41	42					11																	5345495		2198	4297	6495	SO:0001583	missense	79345	exon1			AGTCAGCAAAAAA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.33G>T	11.37:g.5345495C>A	ENSP00000327540:p.Leu11Phe	Somatic	314	3	625	WXS	Illumina GAIIx	Phase_I	262	13	NM_033180	0	0	0	0	0	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839975	0.32513	.	.	ENSG00000184881	ENST00000328813	T	0.00342	8.03	4.39	3.39	0.38822	.	1.096590	0.07388	U	0.888646	T	0.00468	0.0015	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	P	0.61592	0.891	T	0.80379	-0.1407	10	0.26408	T	0.33	.	6.6331	0.22867	0.3167:0.5281:0.1552:0.0	.	11	Q9Y5P1	O51B2_HUMAN	F	11	ENSP00000327540:L11F	ENSP00000327540:L11F	L	-	3	2	OR51B2	5302071	0.000000	0.05858	0.994000	0.49952	0.409000	0.31022	-0.670000	0.05256	2.310000	0.77875	0.644000	0.83932	TTG	.		0.493	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		A	5345495	C	A	5345495	3	1	9	1	0	0	0	0	1	0	0	0	11128	709	25	3	909	3	OR51B2	11	5345495	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	400485	5345495	129661021	401	1988											
OR51I2	390064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	5475467	5475467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatatcctggctgtacttgCattttatgtgccaatgattg	8	8	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5475467C>A	ENST00000341449.2	+	1	830	c.749C>A	c.(748-750)gCa>gAa	p.A250E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	250					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTACTTGCATTTTATGTG	0.483																																					p.A250E		.											.	OR51I2-72	0			c.C749A						.						240	203	216					11																	5475467		2201	4297	6498	SO:0001583	missense	390064	exon1			TACTTGCATTTTA	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.749C>A	11.37:g.5475467C>A	ENSP00000341987:p.Ala250Glu	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	129	20	NM_001004754	0	0	0	0	0	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355405	0.24512	.	.	ENSG00000187918	ENST00000341449	T	0.00169	8.63	5.58	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.322776	0.26665	N	0.023130	T	0.00241	0.0007	L	0.39566	1.225	0.09310	N	1	P	0.46512	0.879	P	0.52758	0.708	T	0.49341	-0.8950	10	0.72032	D	0.01	.	8.2141	0.31501	0.0:0.5519:0.0:0.4481	.	250	Q9H344	O51I2_HUMAN	E	250	ENSP00000341987:A250E	ENSP00000341987:A250E	A	+	2	0	OR51I2	5432043	0.000000	0.05858	0.213000	0.23690	0.003000	0.03518	-0.582000	0.05814	0.480000	0.27534	-0.140000	0.14226	GCA	.		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		A	5475467	C	A	5475467	3	1	9	1	0	0	0	0	1	0	0	0	11140	710	25	3	751	3	OR51I2	11	5475467	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	129972	5475467	129531049	402	1989											
UBQLN3	50613	broad.mit.edu;bcgsc.ca	37	chr11	5530029	5530029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgtgtacatagtgcaaaGcacattgtagccaccaggaa	9	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:5530029G>T	ENST00000311659.4	-	2	907	c.760C>A	c.(760-762)Ctt>Att	p.L254I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	254										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGTGCAAAGCACATTGTAG	0.498																																					p.L254I	Ovarian(72;684 1260 12332 41642 52180)	.											.	UBQLN3-93	0			c.C760A						.						103	94	97					11																	5530029		2201	4297	6498	SO:0001583	missense	50613	exon2			TGCAAAGCACATT	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.760C>A	11.37:g.5530029G>T	ENSP00000347997:p.Leu254Ile	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	102	5	NM_017481	0	0	0	0	0	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	g	14.21	2.468436	0.43839	.	.	ENSG00000175520	ENST00000311659	T	0.55234	0.53	5.63	4.7	0.59300	.	0.000000	0.36338	N	0.002656	T	0.63977	0.2557	M	0.93328	3.405	0.33935	D	0.642547	P	0.39376	0.67	B	0.41723	0.365	T	0.79152	-0.1921	10	0.87932	D	0	-16.2205	9.1568	0.36998	0.1629:0.0:0.837:0.0	.	254	Q9H347	UBQL3_HUMAN	I	254	ENSP00000347997:L254I	ENSP00000347997:L254I	L	-	1	0	UBQLN3	5486605	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.566000	0.53805	2.804000	0.96469	0.586000	0.80456	CTT	.		0.498	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		T	5530029	G	T	5530029	3	4	9	1	0	0	0	0	1	0	0	0	16947	971	34	3	1211	3	UBQLN3	11	5530029	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	54562	5530029	129476487	403	1990											
PDE3B	5140	broad.mit.edu;bcgsc.ca	37	chr11	14865507	14865507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctctatacgtggcagctGccatgcatgattatgatcac	10	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:14865507G>T	ENST00000282096.4	+	12	2808	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	PDE3B_ENST00000455098.2_Missense_Mutation_p.A768S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	819	Catalytic. {ECO:0000250}.				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)	CGTGGCAGCTGCCATGCATGA	0.408																																					p.A819S		.											.	PDE3B-90	0			c.G2455T						.						150	142	145					11																	14865507		2200	4294	6494	SO:0001583	missense	5140	exon12			GCAGCTGCCATGC	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.2455G>T	11.37:g.14865507G>T	ENSP00000282096:p.Ala819Ser	Somatic	92	2		WXS	Illumina GAIIx	Phase_I	80	71	NM_000922	0	0	0	0	0	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278067	0.95459	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.78364	-1.17;-1.17	5.83	5.83	0.93111	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.91763	0.5421	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	768;819	B7ZM37;Q13370	.;PDE3B_HUMAN	S	819;768	ENSP00000282096:A819S;ENSP00000388644:A768S	ENSP00000282096:A819S	A	+	1	0	PDE3B	14822083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.763000	0.94921	0.563000	0.77884	GCC	.		0.408	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		T	14865507	G	T	14865507	3	4	9	1	0	0	0	0	1	0	0	0	11677	1319	46	3	2501	3	PDE3B	11	14865507	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9335478	14865507	120141009	404	1991											
SPTY2D1	144108	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	18636678	18636678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcaacccctgtgctgggCtgcccaggggctgagctaga	15	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:18636678C>A	ENST00000336349.5	-	3	1378	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	381	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGTGCTGGGCTGCCCAGGGG	0.617																																					p.Q381H		.											.	SPTY2D1-90	0			c.G1143T						.						72	78	76					11																	18636678		2199	4293	6492	SO:0001583	missense	144108	exon3			GCTGGGCTGCCCA	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.1143G>T	11.37:g.18636678C>A	ENSP00000337991:p.Gln381His	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	76	14	NM_194285	0	0	4	4	0	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038833	0.08148	.	.	ENSG00000179119	ENST00000336349	T	0.25250	1.81	5.43	-0.0437	0.13858	.	0.618730	0.16463	N	0.213312	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19549	-1.0302	10	0.44086	T	0.13	1.0109	0.134	0.00077	0.2419:0.2119:0.237:0.3092	.	381	Q68D10	SPT2_HUMAN	H	381	ENSP00000337991:Q381H	ENSP00000337991:Q381H	Q	-	3	2	SPTY2D1	18593254	0.004000	0.15560	0.022000	0.16811	0.596000	0.36781	-0.699000	0.05087	-0.149000	0.11215	0.563000	0.77884	CAG	.		0.617	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		A	18636678	C	A	18636678	3	1	9	1	0	0	0	0	1	0	0	0	15173	796	28	3	930	3	SPTY2D1	11	18636678	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3771171	18636678	116369838	405	1992											
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	20907034	20907034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagataccaaccttccccCaggaatcaatttatggcttg	6	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:20907034C>A	ENST00000357134.5	+	5	703	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	NELL1_ENST00000298925.5_Missense_Mutation_p.P212Q|NELL1_ENST00000532434.1_Missense_Mutation_p.P184Q|NELL1_ENST00000325319.5_Missense_Mutation_p.P127Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	184	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACCTTCCCCCAGGAATCAAT	0.418																																					p.P184Q		.											.	NELL1-155	0			c.C551A						.						109	103	105					11																	20907034		2203	4300	6503	SO:0001583	missense	4745	exon5			TTCCCCCAGGAAT	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.551C>A	11.37:g.20907034C>A	ENSP00000349654:p.Pro184Gln	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	77	35	NM_006157	0	0	1	1	0	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061369	0.55432	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.77358	-1.08;-1.08;-1.09;-1.08	5.5	5.5	0.81552	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);	0.059323	0.64402	D	0.000002	D	0.85758	0.5771	M	0.61703	1.905	0.52501	D	0.99995	P;D;B;P	0.89917	0.801;1.0;0.214;0.57	P;D;B;B	0.91635	0.48;0.999;0.161;0.29	T	0.80957	-0.1150	10	0.13470	T	0.59	-7.7714	19.0132	0.92882	0.0:1.0:0.0:0.0	.	127;212;184;184	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	212;184;127;184	ENSP00000298925:P212Q;ENSP00000349654:P184Q;ENSP00000317837:P127Q;ENSP00000437170:P184Q	ENSP00000298925:P212Q	P	+	2	0	NELL1	20863610	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.522000	0.53480	2.574000	0.86865	0.655000	0.94253	CCA	.		0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	20907034	C	A	20907034	3	1	9	1	0	0	0	0	1	0	0	0	10372	594	21	3	569	3	NELL1	11	20907034	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2270356	20907034	114099482	406	1993											
LUZP2	338645	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	24784833	24784833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgaaagaaagagcaaaatGatccgagacctccagaatga	10	7	0	7			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:24784833G>A	ENST00000336930.6	+	5	441	c.375G>A	c.(373-375)atG>atA	p.M125I	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_Missense_Mutation_p.M39I			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	125						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGAGCAAAATGATCCGAGACC	0.289																																					p.M125I		.											.	LUZP2-92	0			c.G375A						.						43	48	46					11																	24784833		2201	4273	6474	SO:0001583	missense	338645	exon5			CAAAATGATCCGA	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.375G>A	11.37:g.24784833G>A	ENSP00000336817:p.Met125Ile	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	134	24	NM_001252010	0	0	0	0	0	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514896	0.27123	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.21734	1.99;2.02;2.02	4.51	4.51	0.55191	.	0.242463	0.42821	D	0.000643	T	0.29783	0.0744	L	0.33485	1.01	0.30492	N	0.771283	D;B	0.61080	0.989;0.22	D;B	0.70487	0.969;0.062	T	0.03887	-1.0995	10	0.11182	T	0.66	-16.9481	13.0682	0.59046	0.0:0.0:1.0:0.0	.	39;125	E9PN53;Q86TE4	.;LUZP2_HUMAN	I	125;125;39	ENSP00000336817:M125I;ENSP00000437032:M125I;ENSP00000432952:M39I	ENSP00000336817:M125I	M	+	3	0	LUZP2	24741409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.536000	0.45693	2.189000	0.69895	0.585000	0.79938	ATG	.		0.289	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		A	24784833	G	A	24784833	3	1	9	1	0	0	0	0	1	0	0	0	9122	1290	45	3	393	3	LUZP2	11	24784833	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3877799	24784833	110221683	407	1994											
CCDC73	493860	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	32739646	32739646	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccatttaagttcctgtgtCtccacaataattttaccaat	4	10	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:32739646C>A	ENST00000335185.5	-	3	226	c.183G>T	c.(181-183)gaG>gaT	p.E61D	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Missense_Mutation_p.E61D	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	61										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTCCTGTGTCTCCACAATAA	0.358																																					p.M61I		.											.	CCDC73-91	0			c.G183T						.						164	166	166					11																	32739646		1848	4088	5936	SO:0001583	missense	493860	exon3			CTGTGTCTCCACA	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.183G>T	11.37:g.32739646C>A	ENSP00000335325:p.Glu61Asp	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555946	0.65425	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.61	0.941	0.19519	.	.	.	.	.	T	0.52370	0.1730	L	0.50333	1.59	0.22982	N	0.998478	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.83275	0.986;0.994;0.996	T	0.32851	-0.9891	8	0.51188	T	0.08	.	6.4192	0.21734	0.0:0.5196:0.0:0.4804	.	61;61;61	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	D	61	.	ENSP00000335325:E61D	E	-	3	2	CCDC73	32696222	0.628000	0.27138	0.796000	0.32109	0.794000	0.44872	0.427000	0.21379	0.359000	0.24239	0.655000	0.94253	GAG	.		0.358	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		A	32739646	C	A	32739646	3	1	9	1	0	0	0	0	1	0	0	0	2853	912	32	3	3120	3	CCDC73	11	32739646	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7954813	32739646	102266870	408	1995											
RAG1	5896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	36597790	36597790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttccggaaaatgaatgCcaggcagtccaaatgctatg	11	10	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:36597790C>A	ENST00000299440.5	+	2	3048	c.2936C>A	c.(2935-2937)gCc>gAc	p.A979D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	979					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)				AAAATGAATGCCAGGCAGTCC	0.448									Familial Hemophagocytic Lymphohistiocytosis																												p.A979D	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	.											.	RAG1-230	0			c.C2936A						.						95	99	98					11																	36597790		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGAATGCCAGGCA	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.2936C>A	11.37:g.36597790C>A	ENSP00000299440:p.Ala979Asp	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	41	37	NM_000448	0	0	0	0	0	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114721	0.77210	.	.	ENSG00000166349	ENST00000299440	T	0.78003	-1.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84484	0.0607	9	.	.	.	.	20.1028	0.97881	0.0:1.0:0.0:0.0	.	979	P15918	RAG1_HUMAN	D	979	ENSP00000299440:A979D	.	A	+	2	0	RAG1	36554366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.827000	0.97445	0.644000	0.83932	GCC	.		0.448	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		A	36597790	C	A	36597790	3	1	9	1	0	0	0	0	1	0	0	0	13048	739	26	3	2938	3	RAG1	11	36597790	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3858144	36597790	98408726	409	1996											
DGKZ	8525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	46397072	46397072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggccatcccggtgcaggtgGatggcgagccctgcaagctt	15	12	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:46397072G>T	ENST00000454345.1	+	21	2490	c.2365G>T	c.(2365-2367)Gat>Tat	p.D789Y	DGKZ_ENST00000527911.1_Missense_Mutation_p.D601Y|DGKZ_ENST00000343674.6_Missense_Mutation_p.D617Y|DGKZ_ENST00000318201.8_Missense_Mutation_p.D578Y|DGKZ_ENST00000532868.2_Missense_Mutation_p.D605Y|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.D567Y|DGKZ_ENST00000421244.2_Missense_Mutation_p.D601Y|DGKZ_ENST00000456247.2_Missense_Mutation_p.D600Y|DGKZ_ENST00000528615.1_Missense_Mutation_p.D379Y	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	789					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGTGCAGGTGGATGGCGAGCC	0.706																																					p.D789Y		.											.	DGKZ-676	0			c.G2365T						.						26	27	27					11																	46397072		2188	4288	6476	SO:0001583	missense	8525	exon21			CAGGTGGATGGCG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2365G>T	11.37:g.46397072G>T	ENSP00000412178:p.Asp789Tyr	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	93	48	NM_001105540	0	0	2	6	4	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.402312|4.402312	0.83230|0.83230	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	D;D;D;D;D;D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|.	4.19|4.19	4.19|4.19	0.49359|0.49359	Diacylglycerol kinase, accessory domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86628|0.86628	0.5978|0.5978	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.999;1.0;0.999;0.997;0.998;1.0|.	D|D	0.90937|0.90937	0.4794|0.4794	10|5	0.87932|.	D|.	0|.	.|.	17.0913|17.0913	0.86623|0.86623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	578;566;544;601;789;600;601;567;617|.	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7|.	.;.;.;.;DGKZ_HUMAN;.;.;.;.|.	Y|C	617;379;567;566;601;600;601;578;789|155	ENSP00000343065:D617Y;ENSP00000434719:D379Y;ENSP00000378941:D567Y;ENSP00000436273:D566Y;ENSP00000436291:D601Y;ENSP00000395684:D600Y;ENSP00000391021:D601Y;ENSP00000320340:D578Y;ENSP00000412178:D789Y|.	ENSP00000320340:D578Y|.	D|W	+|+	1|3	0|0	DGKZ|DGKZ	46353648|46353648	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.653000|0.653000	0.38743|0.38743	9.297000|9.297000	0.96120|0.96120	2.350000|2.350000	0.79820|0.79820	0.462000|0.462000	0.41574|0.41574	GAT|TGG	.		0.706	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		T	46397072	G	T	46397072	3	4	9	1	0	0	0	0	1	0	0	0	4488	1174	41	3	2890	3	DGKZ	11	46397072	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9799282	46397072	88609444	410	1997											
OR4X2	119764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	48267186	48267186	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgacctagttccccttctCaaacttgcctgctctgacac	6	15	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:48267186C>A	ENST00000302329.3	+	1	579	c.531C>A	c.(529-531)ctC>ctA	p.L177L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCCCCTTCTCAAACTTGCCT	0.478																																					p.L177L		.											.	OR4X2-68	0			c.C531A						.						282	256	265					11																	48267186		2201	4298	6499	SO:0001819	synonymous_variant	119764	exon1			CCTTCTCAAACTT	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.531C>A	11.37:g.48267186C>A		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	70	37	NM_001004727	0	0	0	0	0	B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	CCDS31486.1																																																																																			.		0.478	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		A	48267186	C	A	48267186	2	1	9	1	0	0	0	0	0	0	0	1	11124	813	29	3		3	OR4X2	11	48267186	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1870114	48267186	86739330	411	1998											
OR4A16	81327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55110948	55110948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgataaaatcgctatttCcttgtcagcttgcatgggtc	9	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:55110948C>T	ENST00000314721.2	+	1	322	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438																																					p.S91F		.											.	OR4A16-69	0			c.C272T						.						210	191	198					11																	55110948		2201	4296	6497	SO:0001583	missense	81327	exon1			CTATTTCCTTGTC	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.272C>T	11.37:g.55110948C>T	ENSP00000325128:p.Ser91Phe	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	85	13	NM_001005274	0	0	0	0	0	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	9.787	1.176825	0.21704	.	.	ENSG00000181961	ENST00000314721	T	0.01335	5.0	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05181	0.0138	M	0.92880	3.355	0.28293	N	0.923464	B	0.28082	0.2	B	0.33620	0.167	T	0.01337	-1.1381	9	0.72032	D	0.01	.	10.8399	0.46708	0.0:1.0:0.0:0.0	.	91	Q8NH70	O4A16_HUMAN	F	91	ENSP00000325128:S91F	ENSP00000325128:S91F	S	+	2	0	OR4A16	54867524	0.977000	0.34250	0.095000	0.20976	0.050000	0.14768	4.673000	0.61604	1.445000	0.47624	0.423000	0.28283	TCC	.		0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55110948	C	T	55110948	3	4	9	1	0	0	0	0	1	0	0	0	11080	855	30	3	274	3	OR4A16	11	55110948	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6843762	55110948	79895568	412	1999											
OR5M10	390167	broad.mit.edu;bcgsc.ca	37	chr11	56344908	56344908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaagacactgtgtgaagCatccagcgtaggagatggtc	14	7	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:56344908C>A	ENST00000526812.2	-	1	355	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTGTGAAGCATCCAGCGTA	0.443																																					p.C97F		.											.	.	0			c.G290T						.						147	137	140					11																	56344908		1959	4150	6109	SO:0001583	missense	390167	exon1			GTGAAGCATCCAG	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.290G>T	11.37:g.56344908C>A	ENSP00000436004:p.Cys97Phe	Somatic	274	1		WXS	Illumina GAIIx	Phase_I	181	9	NM_001004741	0	0	0	0	0	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434089	0.43224	.	.	ENSG00000254834	ENST00000526812	T	0.16897	2.31	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42063	0.1186	H	0.99391	4.545	0.58432	D	0.999998	P	0.37525	0.598	B	0.34301	0.179	T	0.67891	-0.5553	9	0.87932	D	0	.	15.3464	0.74340	0.0:1.0:0.0:0.0	.	97	Q6IEU7	OR5MA_HUMAN	F	97	ENSP00000436004:C97F	ENSP00000436004:C97F	C	-	2	0	OR5M10	56101484	1.000000	0.71417	0.157000	0.22605	0.015000	0.08874	5.524000	0.67105	2.238000	0.73509	0.632000	0.83419	TGC	.		0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		A	56344908	C	A	56344908	3	1	9	1	0	0	0	0	1	0	0	0	11212	710	25	3	661	3	OR5M10	11	56344908	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1233960	56344908	78661608	413	2000											
TNKS1BP1	85456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57087809	57087809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctcttccaccgtggtggCcgcgaagcgctctgaggctg	14	13	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:57087809C>A	ENST00000532437.1	-	2	783	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A158S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	158	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCGTGGTGGCCGCGAAGCGC	0.667																																					p.A158S		.											.	TNKS1BP1-91	0			c.G472T						.						53	60	58					11																	57087809		2201	4296	6497	SO:0001583	missense	85456	exon3			TGGTGGCCGCGAA	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.472G>T	11.37:g.57087809C>A	ENSP00000437271:p.Ala158Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	60	28	NM_033396	0	0	9	17	8	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196394	0.58126	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36520	1.25;1.25	4.37	2.32	0.28847	.	0.000000	0.33515	N	0.004833	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	P	0.36909	0.573	B	0.35182	0.197	T	0.10706	-1.0618	10	0.32370	T	0.25	-15.8384	8.9311	0.35670	0.0:0.7902:0.0:0.2098	.	158	Q9C0C2	TB182_HUMAN	S	158	ENSP00000350990:A158S;ENSP00000437271:A158S	ENSP00000350990:A158S	A	-	1	0	TNKS1BP1	56844385	0.643000	0.27269	0.131000	0.22000	0.958000	0.62258	0.948000	0.29096	1.030000	0.39839	0.462000	0.41574	GCC	.		0.667	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		A	57087809	C	A	57087809	3	1	9	1	0	0	0	0	1	0	0	0	16367	739	26	3	4753	3	TNKS1BP1	11	57087809	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	742901	57087809	77918707	414	2001											
OR5B12	390191	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	58206901	58206901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggaaactgcagtaaggtGggaagcacaagtagaaaagg	15	4	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:58206901G>T	ENST00000302572.2	-	1	745	c.724C>A	c.(724-726)Cac>Aac	p.H242N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H242N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAGTAAGGTGGGAAGCACAA	0.423																																					p.H242N		.											.	OR5B12-68	1	Substitution - Missense(1)	lung(1)	c.C724A						.						79	76	77					11																	58206901		2201	4295	6496	SO:0001583	missense	390191	exon1			TAAGGTGGGAAGC	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.724C>A	11.37:g.58206901G>T	ENSP00000306657:p.His242Asn	Somatic	237	1		WXS	Illumina GAIIx	Phase_I	204	82	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673272	0.67928	.	.	ENSG00000172362	ENST00000302572	T	0.00314	8.14	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.01254	0.0041	H	0.97491	4.015	0.43527	D	0.995804	D	0.76494	0.999	D	0.77557	0.99	T	0.40040	-0.9584	10	0.87932	D	0	-1.3916	16.2624	0.82553	0.0:0.0:1.0:0.0	.	242	Q96R08	OR5BC_HUMAN	N	242	ENSP00000306657:H242N	ENSP00000306657:H242N	H	-	1	0	OR5B12	57963477	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.423000	0.97461	2.383000	0.81215	0.462000	0.41574	CAC	.		0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		T	58206901	G	T	58206901	3	4	9	1	0	0	0	0	1	0	0	0	11187	1348	47	3	224	3	OR5B12	11	58206901	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1119092	58206901	76799615	415	2002											
TMEM132A	54972	hgsc.bcm.edu	37	chr11	60701987	60701987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccgctgcagaggcgtcGgatgaggccgagcggcgcgc	18	13	0	2	rs7715	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		.											.	TMEM132A-227	0			c.G1590A						.	A	,	942,1508		213,516,496	2	2	2		1590,1587	-7.2	0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_017870	0	0	0	54	54	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.581;A|0.419		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		A	60701987	G	A	60701987	2	1	9	1	0	0	0	0	0	0	0	1	16092	1103	39	1		1	TMEM132A	11	60701987	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2495086	60701987	74304529	416	2003											
MEN1	4221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64574692	64574692	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagagcagccagagcagcttCtaggagccgaaggagagagt	15	8	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:64574692C>A	ENST00000337652.1	-	5	1302		c.e5-1		MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000377313.1_Splice_Site|MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000394376.1_Splice_Site|MEN1_ENST00000478548.1_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGAGCAGCTTCTAGGAGCCGA	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												.	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	0			c.799-1G>T	GRCh37	CS054204|CS982268	MEN1	S		.						39	43	42					11																	64574692		2201	4297	6498	SO:0001630	splice_region_variant	4221	exon7	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	CAGCTTCTAGGAG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.799-1G>T	11.37:g.64574692C>A		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	26	10	NM_130804	0	0	0	2	2	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Splice_Site	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942602	0.73672	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8396	0.70214	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEN1	64331268	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.281000	0.58965	2.158000	0.67659	0.462000	0.41574	.	.		0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		Intron	A	64574692	C	A	64574692	5	1	9	1	0	0	0	0	0	0	1	0	9510	927	32	3	1073	3	MEN1	11	64574692	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3872705	64574692	70431824	417	2004											
PACS1	55690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66001334	66001334	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctacctgagctccatcctCaggttctttgtcaagtccct	7	14	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:66001334C>A	ENST00000320580.4	+	16	1950	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L	PACS1_ENST00000529757.1_Silent_p.L175L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	639					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)		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						GCTCCATCCTCAGGTTCTTTG	0.602																																					p.L639L		.											.	PACS1-74	0			c.C1917A						.						97	76	84					11																	66001334		2200	4295	6495	SO:0001819	synonymous_variant	55690	exon16			CATCCTCAGGTTC	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.1917C>A	11.37:g.66001334C>A		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	132	70	NM_018026	0	0	4	8	4	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	CCDS8129.1																																																																																			.		0.602	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		A	66001334	C	A	66001334	2	1	9	1	0	0	0	0	0	0	0	1	11411	813	29	3		3	PACS1	11	66001334	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1426642	66001334	69005182	418	2005											
CD248	57124	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66083700	66083700	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcctcgcaactgcgcccgtCtgctgccagccggaagccct	11	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:66083700C>A	ENST00000311330.3	-	1	815	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	267					anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CTGCGCCCGTCTGCTGCCAGC	0.667																																					p.D267Y		.											.	CD248-154	0			c.G799T						.						28	37	34					11																	66083700		2200	4294	6494	SO:0001583	missense	57124	exon1			GCCCGTCTGCTGC	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.799G>T	11.37:g.66083700C>A	ENSP00000308117:p.Asp267Tyr	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	124	9	NM_020404	0	0	9	9	0	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307993	0.60305	.	.	ENSG00000174807	ENST00000311330	D	0.99089	-5.41	4.08	4.08	0.47627	Epidermal growth factor-like (1);	0.149436	0.43747	D	0.000531	D	0.99184	0.9717	M	0.83603	2.65	0.46131	D	0.998886	D	0.89917	1.0	D	0.81914	0.995	D	0.99000	1.0811	10	0.87932	D	0	-21.1168	13.7729	0.63036	0.0:1.0:0.0:0.0	.	267	Q9HCU0	CD248_HUMAN	Y	267	ENSP00000308117:D267Y	ENSP00000308117:D267Y	D	-	1	0	CD248	65840276	0.993000	0.37304	0.455000	0.27031	0.982000	0.71751	3.208000	0.51114	2.107000	0.64212	0.462000	0.41574	GAC	.		0.667	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		A	66083700	C	A	66083700	3	1	9	1	0	0	0	0	1	0	0	0	2996	913	32	3	1478	3	CD248	11	66083700	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	82366	66083700	68922816	419	2006											
PPP1CA	5499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	67167109	67167110	+	Frame_Shift_Del	DEL	CA	CA	-													agcagtcagtgaaggttttcCacagtttgatgttgtagcgt							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:67167109_67167110delCA	ENST00000376745.4	-	4	593_594	c.445_446delTG	c.(445-447)tggfs	p.W149fs	PPP1CA_ENST00000312989.7_Frame_Shift_Del_p.W160fs|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Frame_Shift_Del_p.W105fs	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	149					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GAAGGTTTTCCACAGTTTGATG	0.604																																					p.160_160del		.											.	PPP1CA-659	0			c.478_479del						.																																			SO:0001589	frameshift_variant	5499	exon4			GTTTTCCACAGTT		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.445_446delTG	11.37:g.67167111_67167112delCA	ENSP00000365936:p.Trp149fs	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	120	20	NM_001008709	0	0	0	0	0	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Frame_Shift_Del	DEL	ENST00000376745.4	37	CCDS8160.1																																																																																			.		0.604	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		-	67167110	CA	-	67167109	7	5	9	1	0	1	0	1	0	0	0	0	12391	595	21	0	562	0	PPP1CA	11	67167109	Frame_Shift_Del	DEL	CA	TCGA-OR-A5JA-01A-11D-A29I-10	1083409	67167109	67839407	420	2007											
FGF19	9965	hgsc.bcm.edu	37	chr11	69518485	69518485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagcagctggagagccCgtgggggccggaggtgtaca	19	9	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:69518485C>A	ENST00000294312.3	-	1	925	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	54					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)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CTGGAGAGCCCGTGGGGGCCG	0.771																																					p.G54W		.											.	FGF19-658	0			c.G160T						.						5	8	7					11																	69518485		1528	2816	4344	SO:0001583	missense	9965	exon1			AGAGCCCGTGGGG	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.160G>T	11.37:g.69518485C>A	ENSP00000294312:p.Gly54Trp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_005117	0	0	0	0	0		Missense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491024	0.84962	.	.	ENSG00000162344	ENST00000294312	D	0.86164	-2.08	4.18	4.18	0.49190	.	0.327979	0.28577	N	0.014843	D	0.93884	0.8043	M	0.84511	2.7	0.48632	D	0.999684	D	0.89917	1.0	D	0.87578	0.998	D	0.95132	0.8256	10	0.87932	D	0	-30.2016	16.4975	0.84249	0.0:1.0:0.0:0.0	.	54	O95750	FGF19_HUMAN	W	54	ENSP00000294312:G54W	ENSP00000294312:G54W	G	-	1	0	FGF19	69227666	0.985000	0.35326	0.937000	0.37676	0.918000	0.54935	2.244000	0.43124	1.892000	0.54788	0.455000	0.32223	GGG	.		0.771	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		A	69518485	C	A	69518485	3	1	9	1	0	0	0	0	1	0	0	0	5869	652	23	2	502	2	FGF19	11	69518485	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2351376	69518485	65488031	421	2008											
NADSYN1	55191	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	71184625	71184625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgcctgcagcccgcacatcGacatgggcctggatggcgtg	14	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:71184625G>T	ENST00000319023.2	+	8	747	c.559G>T	c.(559-561)Gac>Tac	p.D187Y		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	187	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCCGCACATCGACATGGGCCT	0.627																																					p.D187Y	Ovarian(79;763 1781 6490 50276)	.											.	NADSYN1-92	0			c.G559T						.						47	41	43					11																	71184625		2200	4294	6494	SO:0001583	missense	55191	exon8			CACATCGACATGG	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.559G>T	11.37:g.71184625G>T	ENSP00000326424:p.Asp187Tyr	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	131	65	NM_018161	0	0	0	0	0	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169262	0.38315	.	.	ENSG00000172890	ENST00000319023	D	0.85411	-1.98	4.99	4.07	0.47477	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.382514	0.26776	N	0.022542	D	0.84942	0.5584	L	0.41824	1.3	0.80722	D	1	P	0.39443	0.674	P	0.51266	0.664	T	0.82494	-0.0429	10	0.37606	T	0.19	-31.3749	11.5358	0.50636	0.0896:0.0:0.9104:0.0	.	187	Q6IA69	NADE_HUMAN	Y	187	ENSP00000326424:D187Y	ENSP00000326424:D187Y	D	+	1	0	NADSYN1	70862273	1.000000	0.71417	0.751000	0.31187	0.880000	0.50808	3.850000	0.55918	1.065000	0.40693	0.561000	0.74099	GAC	.		0.627	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		T	71184625	G	T	71184625	3	4	9	1	0	0	0	0	1	0	0	0	10176	1058	37	2	589	2	NADSYN1	11	71184625	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1666140	71184625	63821891	422	2009											
RNF169	254225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	74546991	74546991	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagatcaaaaagaccctttCaaaagccactcttacctctc	4	14	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:74546991C>A	ENST00000299563.4	+	6	1356	c.1343C>A	c.(1342-1344)tCa>tAa	p.S448*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	448					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAGACCCTTTCAAAAGCCACT	0.478																																					p.S448X		.											.	RNF169-69	0			c.C1343A						.						93	93	93					11																	74546991		1844	4086	5930	SO:0001587	stop_gained	254225	exon6			CCCTTTCAAAAGC	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1343C>A	11.37:g.74546991C>A	ENSP00000299563:p.Ser448*	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	46	10	NM_001098638	0	0	3	3	0	Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.150017	0.97329	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.99	5.06	0.68205	.	0.066813	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4813	14.8083	0.69974	0.0:0.855:0.145:0.0	.	.	.	.	X	448	.	ENSP00000299563:S448X	S	+	2	0	RNF169	74224639	1.000000	0.71417	0.968000	0.41197	0.916000	0.54674	4.304000	0.59104	1.484000	0.48361	0.655000	0.94253	TCA	.		0.478	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		A	74546991	C	A	74546991	4	1	9	1	0	0	0	0	0	1	0	0	13505	838	29	3	1365	3	RNF169	11	74546991	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3362366	74546991	60459525	423	2010											
MYO7A	4647	broad.mit.edu	37	chr11	76905570	76905570	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgccgcccacaagaagGtagaagggctgagaggagtc	14	11	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:76905570G>T	ENST00000409709.3	+	32	4595		c.e32+1		MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						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						CCACAAGAAGGTAGAAGGGCT	0.622																																					.		.											.	MYO7A-138	0			c.4323+1G>T						.						26	29	28					11																	76905570		1992	4139	6131	SO:0001630	splice_region_variant	4647	exon32			AAGAAGGTAGAAG	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.4323+1G>T	11.37:g.76905570G>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	82	3	NM_000260	0	0	0	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240397	0.79912	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.042	0.89321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7A	76583218	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.349000	0.97066	2.351000	0.79841	0.508000	0.49915	.	.		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron	T	76905570	G	T	76905570	5	4	9	1	0	0	0	0	0	0	1	0	10120	1275	44	3	4480	3	MYO7A	11	76905570	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2358579	76905570	58100946	424	2011											
USP35	57558	broad.mit.edu	37	chr11	77920580	77920580	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccgaggagcccccggCcccaagttcaacctctgtgg	11	18	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:77920580C>A	ENST00000529308.1	+	10	1940	c.1679C>A	c.(1678-1680)gCc>gAc	p.A560D	USP35_ENST00000441408.2_Missense_Mutation_p.A146D|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A291D|USP35_ENST00000530267.1_Missense_Mutation_p.A128D	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	560	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)			GAGCCCCCGGCCCCAAGTTCA	0.597																																					p.A560D		.											.	USP35-637	0			c.C1679A						.						40	44	42					11																	77920580		1910	4118	6028	SO:0001583	missense	57558	exon10			CCCCGGCCCCAAG	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.1679C>A	11.37:g.77920580C>A	ENSP00000431876:p.Ala560Asp	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	109	4	NM_020798	0	0	10	10	0		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	0.175	-1.067737	0.01934	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.57	1.61	0.23674	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.658710	0.01033	N	0.004179	T	0.20536	0.0494	N	0.16233	0.39	0.09310	N	1	B;B	0.24317	0.042;0.101	B;B	0.25614	0.061;0.062	T	0.17992	-1.0351	10	0.17369	T	0.5	-1.7958	6.6616	0.23016	0.2463:0.4436:0.3101:0.0	.	560;146	Q9P2H5;E7EWV7	UBP35_HUMAN;.	D	128;560;146;291	ENSP00000435468:A128D;ENSP00000431876:A560D;ENSP00000400825:A146D;ENSP00000434942:A291D	ENSP00000400825:A146D	A	+	2	0	USP35	77598228	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.154000	0.10130	0.538000	0.28769	-0.351000	0.07748	GCC	.		0.597	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		A	77920580	C	A	77920580	3	1	9	1	0	0	0	0	1	0	0	0	17115	739	26	3	1713	3	USP35	11	77920580	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1015010	77920580	57085936	425	2012											
DLG2	1740	bcgsc.ca	37	chr11	83641481	83641481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgcctgggagaagcaggCttatcacatagtttgttcac	11	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:83641481C>A	ENST00000532653.1	-	10	1373	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	DLG2_ENST00000398301.2_Missense_Mutation_p.K396N|DLG2_ENST00000531015.1_Missense_Mutation_p.K324N|DLG2_ENST00000398309.2_Missense_Mutation_p.K357N|DLG2_ENST00000330014.6_Missense_Mutation_p.K296N|DLG2_ENST00000524982.1_Missense_Mutation_p.K357N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.K111N|DLG2_ENST00000280241.8_Missense_Mutation_p.K396N|DLG2_ENST00000543673.1_Missense_Mutation_p.K462N|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.K462N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAGAAGCAGGCTTATCACATA	0.488																																					p.K462N		.											.	DLG2-96	0			c.G1386T						.						169	174	172					11																	83641481		2012	4195	6207	SO:0001583	missense	1740	exon15			AGCAGGCTTATCA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1071G>T	11.37:g.83641481C>A	ENSP00000435849:p.Lys357Asn	Somatic	210	4		WXS	Illumina GAIIx	Phase_I	172	39	NM_001142699	0	0	2	2	0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	12.39	1.922382	0.33908	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.19669	2.65;2.65;2.65;2.61;2.57;2.41;2.65;2.61;2.45;2.13	5.99	3.89	0.44902	.	0.182212	0.34268	N	0.004118	T	0.15652	0.0377	N	0.19112	0.55	0.80722	D	1	P;P;P;P;P;P;P	0.41475	0.608;0.455;0.455;0.608;0.751;0.728;0.455	B;B;B;B;B;P;B	0.44359	0.261;0.193;0.193;0.193;0.104;0.447;0.193	T	0.06006	-1.0851	9	.	.	.	.	9.9452	0.41604	0.0:0.7636:0.0:0.2364	.	324;357;357;296;396;462;357	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	N	357;462;462;396;296;111;357;357;462;324;396	ENSP00000381355:K357N;ENSP00000365272:K462N;ENSP00000441994:K462N;ENSP00000280241:K396N;ENSP00000381353:K296N;ENSP00000443248:K111N;ENSP00000432894:K357N;ENSP00000435849:K357N;ENSP00000433848:K324N;ENSP00000381346:K396N	.	K	-	3	2	DLG2	83319129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.824000	0.39072	1.512000	0.48834	0.655000	0.94253	AAG	.		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		A	83641481	C	A	83641481	3	1	9	1	0	0	0	0	1	0	0	0	4569	796	28	3	1647	3	DLG2	11	83641481	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5720901	83641481	51365035	426	2013											
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	108380726	108380726	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgttgacagagaattcattCccaagggtcagtcgactcag	10	9	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:108380726C>A	ENST00000265843.4	-	6	5618	c.5508G>T	c.(5506-5508)ggG>ggT	p.G1836G	EXPH5_ENST00000525344.1_Silent_p.G1829G|EXPH5_ENST00000443411.1_Silent_p.G1648G|EXPH5_ENST00000428840.1_Silent_p.G1760G	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1836					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAATTCATTCCCAAGGGTCA	0.463																																					p.G1836G		.											.	EXPH5-95	0			c.G5508T						.						60	59	60					11																	108380726		2201	4298	6499	SO:0001819	synonymous_variant	23086	exon6			TTCATTCCCAAGG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5508G>T	11.37:g.108380726C>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	70	35	NM_015065	0	0	0	0	0	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108380726	C	A	108380726	2	1	9	1	0	0	0	0	0	0	0	1	5338	842	30	3		3	EXPH5	11	108380726	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	24739245	108380726	26625790	427	2014											
OR10G4	390264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	123886949	123886949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctatgtgtccatcgtctgttCcatcctgcggatccgcacct	8	15	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:123886949C>A	ENST00000320891.4	+	1	668	c.668C>A	c.(667-669)tCc>tAc	p.S223Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATCGTCTGTTCCATCCTGCGG	0.537																																					p.S223Y		.											.	OR10G4-93	0			c.C668A						.						193	158	170					11																	123886949		2201	4299	6500	SO:0001583	missense	390264	exon1			TCTGTTCCATCCT	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.668C>A	11.37:g.123886949C>A	ENSP00000325076:p.Ser223Tyr	Somatic	285	1		WXS	Illumina GAIIx	Phase_I	221	97	NM_001004462	0	0	0	0	0	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.995365	0.54147	.	.	ENSG00000254737	ENST00000320891	T	0.00164	8.64	3.33	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.146503	0.31051	N	0.008360	T	0.00412	0.0013	M	0.76574	2.34	0.30320	N	0.787699	D	0.60575	0.988	D	0.67725	0.953	T	0.30475	-0.9977	10	0.87932	D	0	.	12.4265	0.55551	0.0:0.829:0.171:0.0	.	223	Q8NGN3	O10G4_HUMAN	Y	223	ENSP00000325076:S223Y	ENSP00000325076:S223Y	S	+	2	0	OR10G4	123392159	0.001000	0.12720	0.783000	0.31826	0.891000	0.51852	1.257000	0.32932	0.731000	0.32448	0.580000	0.79431	TCC	.		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		A	123886949	C	A	123886949	3	1	9	1	0	0	0	0	1	0	0	0	10940	855	30	3	670	3	OR10G4	11	123886949	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15506223	123886949	11119567	428	2015											
BARX2	8538	broad.mit.edu;bcgsc.ca	37	chr11	129306690	129306690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctctcggtgatcaccCgccagcccactgtcatctcc	7	20	4	1	rs571141152		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:129306690C>A	ENST00000281437.4	+	2	328	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	78					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|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)	p.R78C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGTGATCACCCGCCAGCCCAC	0.672																																					p.R78S		.											.	BARX2-90	1	Substitution - Missense(1)	central_nervous_system(1)	c.C232A						.						100	103	102					11																	129306690		2201	4297	6498	SO:0001583	missense	8538	exon2			ATCACCCGCCAGC	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.232C>A	11.37:g.129306690C>A	ENSP00000281437:p.Arg78Ser	Somatic	159	1		WXS	Illumina GAIIx	Phase_I	138	11	NM_003658	0	0	0	0	0	O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353052	0.41700	.	.	ENSG00000043039	ENST00000281437	D	0.90563	-2.69	5.23	5.23	0.72850	.	0.129740	0.52532	D	0.000076	D	0.88055	0.6334	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.54815	0.761	D	0.83979	0.0331	10	0.05620	T	0.96	.	13.3401	0.60540	0.1583:0.8417:0.0:0.0	.	78	Q9UMQ3	BARX2_HUMAN	S	78	ENSP00000281437:R78S	ENSP00000281437:R78S	R	+	1	0	BARX2	128811900	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.799000	0.47892	2.713000	0.92767	0.655000	0.94253	CGC	.		0.672	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		A	129306690	C	A	129306690	3	1	9	1	0	0	0	0	1	0	0	0	1317	652	23	2	238	2	BARX2	11	129306690	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5419741	129306690	5699826	429	2016											
ADAMTS8	11095	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	130275863	130275863	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcaccaagatgtcctgctCtatggcagagatggccaggt	11	11	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr11:130275863C>A	ENST00000257359.6	-	9	2966	c.2260G>T	c.(2260-2262)Gag>Tag	p.E754*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	754	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATGTCCTGCTCTATGGCAGAG	0.627																																					p.E754X		.											.	ADAMTS8-226	0			c.G2260T						.						81	83	82					11																	130275863		2103	4227	6330	SO:0001587	stop_gained	11095	exon9			CCTGCTCTATGGC	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2260G>T	11.37:g.130275863C>A	ENSP00000257359:p.Glu754*	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	94	46	NM_007037	0	0	0	0	0	Q9NZS0	Nonsense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	46	12.785644	0.99696	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.0628	0.93100	0.0:1.0:0.0:0.0	.	.	.	.	X	152;754;783	.	ENSP00000257359:E754X	E	-	1	0	ADAMTS8	129781073	1.000000	0.71417	0.901000	0.35422	0.996000	0.88848	7.487000	0.81328	2.499000	0.84300	0.467000	0.42956	GAG	.		0.627	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130275863	C	A	130275863	4	1	9	1	0	0	0	0	0	1	0	0	272	922	32	3	413	3	ADAMTS8	11	130275863	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	969173	130275863	4730653	430	2017											
IQSEC3	440073	hgsc.bcm.edu	37	chr12	247900	247900	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgaggggcgggcgccggaGagcgcgggccccgggcccgg	23	15	0	1	rs7313003	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:247900G>A	ENST00000538872.1	+	4	1489	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	IQSEC3_ENST00000382841.2_Silent_p.E154E|IQSEC3_ENST00000326261.4_Silent_p.E457E|RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	457					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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		gggcgccggagagcgcgggcc	0.781													G|||	1298	0.259185	0.149	0.1427	5008	,	,		8327	0.371		0.2445	False		,,,				2504	0.3906				p.E457E		.											.	IQSEC3-560	0			c.G1371A						.						4	5	5					12																	247900		1794	3598	5392	SO:0001819	synonymous_variant	440073	exon4			GCCGGAGAGCGCG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1371G>A	12.37:g.247900G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001170738	0	0	0	0	0	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																			G|0.768;A|0.232		0.781	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		A	247900	G	A	247900	2	1	9	1	0	0	0	0	0	0	0	1	7846	933	33	3		3	IQSEC3	12	247900	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		247900	133603995	431	2018											
CACNA2D4	93589	ucsc.edu;bcgsc.ca	37	chr12	1902879	1902879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcagcaggagtaggggcGgcgaggctgaggtgtccgag	21	8	0	1	rs145150489	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:1902879G>T	ENST00000382722.5	-	38	3718	c.3356C>A	c.(3355-3357)cCg>cAg	p.P1119Q	CACNA2D4_ENST00000538450.1_Missense_Mutation_p.P249Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P1055Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P1094Q|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.P264Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1119					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)		GAGTAGGGGCGGCGAGGCTGA	0.652																																					p.P1119Q	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C3356A						.						32	41	38					12																	1902879		2067	4206	6273	SO:0001583	missense	93589	exon38			AGGGGCGGCGAGG	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.3356C>A	12.37:g.1902879G>T	ENSP00000372169:p.Pro1119Gln	Somatic	179	3		WXS	Illumina GAIIx	Phase_I	379	57	NM_172364	0	0	1	1	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	7.683	0.689508	0.14973	.	.	ENSG00000151062	ENST00000456077;ENST00000537784;ENST00000545595;ENST00000382722;ENST00000538027;ENST00000538450	T;T	0.55052	0.54;0.54	4.8	2.47	0.30058	.	1.540320	0.03713	N	0.250501	T	0.45054	0.1323	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30621	-0.9972	10	0.49607	T	0.09	.	6.8943	0.24247	0.6965:0.0:0.3035:0.0	.	1119	Q7Z3S7	CA2D4_HUMAN	Q	1055;186;186;1119;186;249	ENSP00000372169:P1119Q;ENSP00000446341:P249Q	ENSP00000372169:P1119Q	P	-	2	0	CACNA2D4	1773140	0.000000	0.05858	0.130000	0.21974	0.545000	0.35147	0.055000	0.14229	0.366000	0.24427	-0.340000	0.08031	CCG	G|0.998;A|0.002		0.652	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	1902879	G	T	1902879	3	4	9	1	0	0	0	0	1	0	0	0	2558	1116	39	2	61	2	CACNA2D4	12	1902879	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1654979	1902879	131949016	432	2019											
ANO2	57101	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	5685071	5685071	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccttcagctggctgacgttGaaaaaggagagggtgtggtt	15	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:5685071G>T	ENST00000356134.5	-	25	2624	c.2553C>A	c.(2551-2553)ttC>ttA	p.F851L	ANO2_ENST00000546188.1_Missense_Mutation_p.F851L|ANO2_ENST00000327087.8_Missense_Mutation_p.F850L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	855					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTGACGTTGAAAAAGGAGA	0.527																																					p.F850L		.											.	ANO2-139	0			c.C2550A						.						67	69	68					12																	5685071		1939	4153	6092	SO:0001583	missense	57101	exon24			GACGTTGAAAAAG	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2553C>A	12.37:g.5685071G>T	ENSP00000348453:p.Phe851Leu	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	186	18	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.191711	0.78902	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70749	-0.51;-0.51;-0.51	5.28	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91406	3.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.87103	0.2180	10	0.72032	D	0.01	.	11.5498	0.50715	0.1459:0.0:0.8541:0.0	.	850	Q9NQ90-3	.	L	850;851;851;855	ENSP00000314048:F850L;ENSP00000348453:F851L;ENSP00000440981:F851L	ENSP00000314048:F850L	F	-	3	2	ANO2	5555332	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	0.729000	0.32403	-0.133000	0.14855	TTC	.		0.527	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		T	5685071	G	T	5685071	3	4	9	1	0	0	0	0	1	0	0	0	697	1281	45	3	458	3	ANO2	12	5685071	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3782192	5685071	128166824	433	2020											
C12orf53	196500	broad.mit.edu;ucsc.edu	37	chr12	6805620	6805620	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagcttaccagaacttgaaGatgatgccagtggccacgag	11	11	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:6805620G>T	ENST00000540656.1	-	4	932	c.594C>A	c.(592-594)atC>atA	p.I198I	PIANP_ENST00000534837.1_Silent_p.I198I|PIANP_ENST00000320591.5_Silent_p.I198I	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	198						integral component of membrane (GO:0016021)											AGAACTTGAAGATGATGCCAG	0.522																																					p.I198I		.											.	.	0			c.C594A						.						56	58	58					12																	6805620		2087	4218	6305	SO:0001819	synonymous_variant	196500	exon4			CTTGAAGATGATG	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"PILR-associating neural protein"		"chromosome 12 open reading frame 53"	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.594C>A	12.37:g.6805620G>T		Somatic	108	2		WXS	Illumina GAIIx	Phase_I	121	12	NM_001244014	0	0	0	0	0	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	CCDS44818.1																																																																																			.		0.522	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		T	6805620	G	T	6805620	2	4	9	1	0	0	0	0	0	0	0	1	1703	932	33	3		3	C12orf53	12	6805620	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1120549	6805620	127046275	434	2021											
CD163	9332	broad.mit.edu;bcgsc.ca	37	chr12	7653770	7653770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcttgttggtgagtaCagttactatgctttccccat	8	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:7653770C>A	ENST00000359156.4	-	3	624	c.422G>T	c.(421-423)tGt>tTt	p.C141F	CD163_ENST00000396620.3_Missense_Mutation_p.C141F|CD163_ENST00000432237.2_Missense_Mutation_p.C141F|CD163_ENST00000541972.1_Missense_Mutation_p.C129F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	141	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTGGTGAGTACAGTTACTATG	0.448																																					p.C141F		.											.	CD163-98	0			c.G422T						.						216	215	216					12																	7653770		2203	4300	6503	SO:0001583	missense	9332	exon3			TGAGTACAGTTAC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.422G>T	12.37:g.7653770C>A	ENSP00000352071:p.Cys141Phe	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	169	8	NM_203416	0	0	2	2	0	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274932	0.80580	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.15	5.15	0.70609	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.425559	0.23943	N	0.043024	T	0.75649	0.3878	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.80995	-0.1133	10	0.87932	D	0	.	16.9175	0.86155	0.0:1.0:0.0:0.0	.	141;141;141	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	141;129;141;141	ENSP00000352071:C141F;ENSP00000444071:C129F;ENSP00000379863:C141F;ENSP00000403885:C141F	ENSP00000352071:C141F	C	-	2	0	CD163	7545037	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	7.622000	0.83099	2.780000	0.95670	0.655000	0.94253	TGT	.		0.448	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7653770	C	A	7653770	3	1	9	1	0	0	0	0	1	0	0	0	2974	478	17	3	3104	3	CD163	12	7653770	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	848150	7653770	126198125	435	2022											
PHC1	1911	broad.mit.edu	37	chr12	9085175	9085175	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atagccacctacacacagatCcagccccattcactgattca	4	16	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:9085175C>A	ENST00000543824.1	+	9	1454	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Silent_p.I329I|PHC1_ENST00000544916.1_Silent_p.I374I|PHC1_ENST00000536844.1_Silent_p.I153I			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	374					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACACACAGATCCAGCCCCATT	0.428																																					p.I374I		.											.	PHC1-154	0			c.C1122A						.						67	65	66					12																	9085175		2203	4300	6503	SO:0001819	synonymous_variant	1911	exon8			ACAGATCCAGCCC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1122C>A	12.37:g.9085175C>A		Somatic	185	1		WXS	Illumina GAIIx	Phase_I	268	18	NM_004426	0	0	6	6	0	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372377	0.11409	.	.	ENSG00000111752	ENST00000537610	.	.	.	5.27	4.38	0.52667	.	.	.	.	.	T	0.62841	0.2461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61417	-0.7067	4	.	.	.	-18.5114	11.4528	0.50162	0.0:0.8504:0.0:0.1496	.	.	.	.	Y	10	.	.	S	+	2	0	PHC1	8976442	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.972000	0.29409	1.448000	0.47680	0.650000	0.86243	TCC	.		0.428	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		A	9085175	C	A	9085175	2	1	9	1	0	0	0	0	0	0	0	1	11855	845	30	3		3	PHC1	12	9085175	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1431405	9085175	124766720	436	2023											
GABARAPL1	23710	broad.mit.edu;bcgsc.ca	37	chr12	10365807	10365807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatccggaagaaatatccgGacagggtccccgtgagtgta	13	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:10365807G>T	ENST00000266458.5	+	1	404	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	GABARAPL1_ENST00000421801.2_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000544284.1_5'UTR|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000546017.1_5'Flank|GABARAPL1_ENST00000545047.1_Missense_Mutation_p.D27Y|GABARAPL1_ENST00000543602.1_Missense_Mutation_p.D27Y|RP11-656E20.5_ENST00000538416.1_RNA|GABARAPL1_ENST00000539170.1_5'Flank|GABARAPL1_ENST00000535576.1_5'Flank	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	27					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						GAAATATCCGGACAGGGTCCC	0.617																																					p.D27Y	Melanoma(3;46 76 4652 22680 42285)	.											.	GABARAPL1-90	0			c.G79T						.						18	17	17					12																	10365807		2190	4285	6475	SO:0001583	missense	23710	exon1			TATCCGGACAGGG	AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.79G>T	12.37:g.10365807G>T	ENSP00000266458:p.Asp27Tyr	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	258	71	NM_031412	0	0	68	121	53	B4E0Y7|Q6FIE6	Missense_Mutation	SNP	ENST00000266458.5	37	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584937	0.65992	.	.	ENSG00000139112	ENST00000545859;ENST00000266458;ENST00000421801;ENST00000545047;ENST00000543602;ENST00000545887	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.74222	0.3688	M	0.90870	3.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.981;0.985	T	0.81008	-0.1127	10	0.87932	D	0	.	15.3362	0.74255	0.0:0.0:1.0:0.0	.	27;27	B4E0Y7;Q9H0R8	.;GBRL1_HUMAN	Y	27	ENSP00000444108:D27Y;ENSP00000266458:D27Y;ENSP00000411256:D27Y;ENSP00000445857:D27Y;ENSP00000444186:D27Y	ENSP00000266458:D27Y	D	+	1	0	GABARAPL1	10257074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.154000	0.94694	2.472000	0.83506	0.591000	0.81541	GAC	.		0.617	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1			T	10365807	G	T	10365807	3	4	9	1	0	0	0	0	1	0	0	0	6177	1174	41	3	81	3	GABARAPL1	12	10365807	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1280632	10365807	123486088	437	2024											
STYK1	55359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	10777358	10777358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggtgtaaacttcataaGccaggcctaatccacagagc	9	12	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:10777358G>T	ENST00000075503.3	-	8	1338	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTCATAAGCCAGGCCTAA	0.507										HNSCC(73;0.22)																											p.A273D		.											.	STYK1-1379	0			c.C818A						.						206	200	202					12																	10777358		2203	4300	6503	SO:0001583	missense	55359	exon8			TCATAAGCCAGGC	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.818C>A	12.37:g.10777358G>T	ENSP00000075503:p.Ala273Asp	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	258	63	NM_018423	0	0	0	0	0	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364752	0.82463	.	.	ENSG00000060140	ENST00000075503	T	0.74315	-0.83	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.90710	0.7085	H	0.97158	3.95	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.93723	0.7034	10	0.87932	D	0	-12.8068	15.8643	0.79052	0.0:0.0:1.0:0.0	.	273	Q6J9G0	STYK1_HUMAN	D	273	ENSP00000075503:A273D	ENSP00000075503:A273D	A	-	2	0	STYK1	10668625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.436000	0.73417	2.419000	0.82065	0.655000	0.94253	GCT	.		0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		T	10777358	G	T	10777358	3	4	9	1	0	0	0	0	1	0	0	0	15406	971	34	3	466	3	STYK1	12	10777358	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	411551	10777358	123074537	438	2025											
GPRC5D	55507	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	13102863	13102863	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaacatcatacctctggtCatgatgagagtcacatactc	6	11	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:13102863C>A	ENST00000228887.1	-	1	455	c.456G>T	c.(454-456)atG>atT	p.M152I	RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.M152I|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TACCTCTGGTCATGATGAGAG	0.463																																					p.M152I		.											.	GPRC5D-90	0			c.G456T						.						127	99	109					12																	13102863		2203	4300	6503	SO:0001583	missense	55507	exon1			TCTGGTCATGATG	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.456G>T	12.37:g.13102863C>A	ENSP00000228887:p.Met152Ile	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	271	38	NM_018654	0	0	0	0	0	Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	5.315	0.243463	0.10077	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.87887	-2.31;-2.31	6.17	3.31	0.37934	GPCR, family 3, C-terminal (1);	0.321151	0.32258	N	0.006348	T	0.77425	0.4128	L	0.41710	1.295	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.59830	-0.7380	10	0.22109	T	0.4	.	4.7979	0.13281	0.1152:0.5385:0.2229:0.1234	.	152	Q9NZD1	GPC5D_HUMAN	I	152	ENSP00000228887:M152I;ENSP00000379624:M152I	ENSP00000228887:M152I	M	-	3	0	GPRC5D	12994130	0.619000	0.27059	0.159000	0.22649	0.521000	0.34408	0.068000	0.14531	0.448000	0.26722	0.655000	0.94253	ATG	.		0.463	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			A	13102863	C	A	13102863	3	1	9	1	0	0	0	0	1	0	0	0	6754	826	29	3	591	3	GPRC5D	12	13102863	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2325505	13102863	120749032	439	2026											
GRIN2B	2904	bcgsc.ca	37	chr12	13761624	13761624	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagtgtagctggccaggaaGatgacagcaaagaaggccca	14	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:13761624G>T	ENST00000609686.1	-	9	2132	c.1923C>A	c.(1921-1923)atC>atA	p.I641I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	641					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGCCAGGAAGATGACAGCAA	0.512																																					p.I641I		.											.	GRIN2B-231	0			c.C1923A						.						147	123	131					12																	13761624		2203	4300	6503	SO:0001819	synonymous_variant	2904	exon9			CAGGAAGATGACA		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1923C>A	12.37:g.13761624G>T		Somatic	217	2		WXS	Illumina GAIIx	Phase_I	288	17	NM_000834	0	0	0	0	0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																			.		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13761624	G	T	13761624	2	4	9	1	0	0	0	0	0	0	0	1	6807	932	33	3		3	GRIN2B	12	13761624	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	658761	13761624	120090271	440	2027											
PLEKHA5	54477	bcgsc.ca	37	chr12	19475524	19475524	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagataacccagcagccattCagacagtggtgttacaaagg	10	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:19475524C>A	ENST00000299275.6	+	15	2068	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q607K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q746K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q791K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q688K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q446K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q619K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q746K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q688K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	688					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGCAGCCATTCAGACAGTGGT	0.408																																					p.Q791K	Pancreas(196;329 2193 11246 14234 19524)	.											.	PLEKHA5-227	0			c.C2371A						.						87	83	84					12																	19475524		2203	4300	6503	SO:0001583	missense	54477	exon20			GCCATTCAGACAG	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2062C>A	12.37:g.19475524C>A	ENSP00000299275:p.Gln688Lys	Somatic	173	2		WXS	Illumina GAIIx	Phase_I	210	20	NM_001256470	0	0	17	17	0	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118439	0.77323	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	4.76	4.76	0.60689	.	0.056283	0.64402	D	0.000001	T	0.38983	0.1061	M	0.75447	2.3	0.43444	D	0.995628	D;P;P;D;D;D;P;P	0.69078	0.971;0.812;0.714;0.997;0.996;0.975;0.714;0.812	P;P;B;D;D;D;B;P	0.72982	0.882;0.481;0.288;0.977;0.979;0.949;0.404;0.481	T	0.26430	-1.0103	10	0.62326	D	0.03	-12.6456	17.9632	0.89092	0.0:1.0:0.0:0.0	.	688;607;619;791;688;791;688;746	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	K	688;746;688;792;791;688;446;746;619;607;580;25	ENSP00000325155:Q688K;ENSP00000347560:Q746K;ENSP00000352104:Q688K;ENSP00000404296:Q791K;ENSP00000299275:Q688K;ENSP00000440611:Q446K;ENSP00000439673:Q746K;ENSP00000400411:Q619K;ENSP00000439837:Q607K;ENSP00000440371:Q580K;ENSP00000443553:Q25K	ENSP00000299275:Q688K	Q	+	1	0	PLEKHA5	19366791	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.060000	0.64312	2.462000	0.83206	0.557000	0.71058	CAG	.		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		A	19475524	C	A	19475524	3	1	9	1	0	0	0	0	1	0	0	0	12098	827	29	3	2245	3	PLEKHA5	12	19475524	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5713900	19475524	114376371	441	2028											
C12orf11	55726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	27066421	27066421	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgccaagacttttcctgttCataatctttcactgctttct	4	11	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:27066421C>A	ENST00000261191.7	-	14	2310	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.E491*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	592					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTTTCCTGTTCATAATCTTTC	0.443																																					p.E592X		.											.	.	0			c.G1774T						.						330	308	315					12																	27066421		2203	4300	6503	SO:0001587	stop_gained	55726	exon14			CCTGTTCATAATC	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1774G>T	12.37:g.27066421C>A	ENSP00000261191:p.Glu592*	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	100	28	NM_018164	0	0	46	50	4	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567311	0.86439	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	.	.	.	5.07	5.07	0.68467	.	0.363448	0.31760	N	0.007115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-11.2572	17.5062	0.87746	0.0:1.0:0.0:0.0	.	.	.	.	X	239;592;491;179	.	ENSP00000261191:E592X	E	-	1	0	C12orf11	26957688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	2.727000	0.93392	0.591000	0.81541	GAA	.		0.443	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		A	27066421	C	A	27066421	4	1	9	1	0	0	0	0	0	1	0	0	1680	835	29	3	362	3	C12orf11	12	27066421	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7590897	27066421	106785474	442	2029											
KLHDC5	57542	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	27933962	27933962	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgttggttcccgctggcCaacaaccttcctcccgacct	9	17	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:27933962C>A	ENST00000381271.2	+	1	1010	c.699C>A	c.(697-699)gcC>gcA	p.A233A	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	233					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCCCGCTGGCCAACAACCTTC	0.627																																					p.A233A		.											.	.	0			c.C699A						.						78	57	64					12																	27933962		2203	4300	6503	SO:0001819	synonymous_variant	57542	exon1			GCTGGCCAACAAC	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.699C>A	12.37:g.27933962C>A		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	165	40	NM_020782	0	0	5	9	4	Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830019	0.50845	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.73	2.89	0.33648	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51818	-0.8657	4	.	.	.	.	8.5629	0.33523	0.1525:0.7677:0.0:0.0797	.	.	.	.	K	55	.	.	Q	+	1	0	KLHDC5	27825229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.539000	0.36104	0.598000	0.29829	0.586000	0.80456	CAA	.		0.627	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		A	27933962	C	A	27933962	2	1	9	1	0	0	0	0	0	0	0	1	8386	581	21	3		3	KLHDC5	12	27933962	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	867541	27933962	105917933	443	2030											
LRRK2	120892	broad.mit.edu	37	chr12	40689345	40689345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaactaagagatattgatGccctaagccagaaatgctgt	9	7	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:40689345G>T	ENST00000298910.7	+	23	3053	c.2995G>T	c.(2995-2997)Gcc>Tcc	p.A999S	LRRK2_ENST00000343742.2_Missense_Mutation_p.A999S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	999					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)				AGATATTGATGCCCTAAGCCA	0.413																																					p.A999S		.											.	LRRK2-533	0			c.G2995T						.						84	78	80					12																	40689345		2203	4300	6503	SO:0001583	missense	120892	exon23			ATTGATGCCCTAA	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.2995G>T	12.37:g.40689345G>T	ENSP00000298910:p.Ala999Ser	Somatic	97	2		WXS	Illumina GAIIx	Phase_I	93	7	NM_198578	0	0	0	2	2	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393882	0.62066	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71103	2.36;-0.54	5.71	4.76	0.60689	.	0.250090	0.39544	N	0.001337	T	0.47764	0.1463	N	0.10629	0.01	0.30473	N	0.773097	B;B	0.22003	0.051;0.063	B;B	0.26310	0.045;0.068	T	0.40887	-0.9539	10	0.11485	T	0.65	.	11.212	0.48804	0.0:0.1373:0.7204:0.1423	.	999;999	E9PC85;Q5S007	.;LRRK2_HUMAN	S	999	ENSP00000341930:A999S;ENSP00000298910:A999S	ENSP00000298910:A999S	A	+	1	0	LRRK2	38975612	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	1.931000	0.40134	2.695000	0.91970	0.591000	0.81541	GCC	.		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40689345	G	T	40689345	3	4	9	1	0	0	0	0	1	0	0	0	9068	1319	46	3	3085	3	LRRK2	12	40689345	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	12755383	40689345	93162550	444	2031											
C12orf41	54934	broad.mit.edu;ucsc.edu	37	chr12	49075169	49075169	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctatacatatatacccatCtttcttctctggctttgggg	6	10	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:49075169C>A	ENST00000420613.2	-	2	294	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	KANSL2_ENST00000553086.1_Missense_Mutation_p.D83Y|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.D266Y	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	83					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											ATATACCCATCTTTCTTCTCT	0.413																																					p.D83Y		.											.	.	0			c.G247T						.						117	110	112					12																	49075169		1840	4094	5934	SO:0001583	missense	54934	exon2			ACCCATCTTTCTT	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.247G>T	12.37:g.49075169C>A	ENSP00000415436:p.Asp83Tyr	Somatic	59	1		WXS	Illumina GAIIx	Phase_I	91	11	NM_017822	0	0	0	0	0	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924830	0.92319	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870	T;T;T;T	0.77358	-1.09;-1.09;-1.09;0.91	5.59	5.59	0.84812	.	.	.	.	.	D	0.83848	0.5343	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	D	0.85296	0.1070	9	0.87932	D	0	.	18.3649	0.90388	0.0:1.0:0.0:0.0	.	266;83	F8VX10;Q9H9L4	.;CL041_HUMAN	Y	266;83;83;83	ENSP00000449747:D266Y;ENSP00000415436:D83Y;ENSP00000448833:D83Y;ENSP00000448473:D83Y	ENSP00000415436:D83Y	D	-	1	0	C12orf41	47361436	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.551000	0.82182	2.635000	0.89317	0.467000	0.42956	GAT	.		0.413	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		A	49075169	C	A	49075169	3	1	9	1	0	0	0	0	1	0	0	0	1692	913	32	3	1267	3	C12orf41	12	49075169	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8385824	49075169	84776726	445	2032											
RND1	27289	broad.mit.edu	37	chr12	49254807	49254807	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taggagatgggcgcctgcttCtggtgggacagctccatcag	15	10	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:49254807C>A	ENST00000309739.5	-	4	556	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	142					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCGCCTGCTTCTGGTGGGACA	0.547																																					p.Q142H		.											.	RND1-228	0			c.G426T						.						107	98	101					12																	49254807		2203	4300	6503	SO:0001583	missense	27289	exon4			CTGCTTCTGGTGG	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.426G>T	12.37:g.49254807C>A	ENSP00000308461:p.Gln142His	Somatic	93	2		WXS	Illumina GAIIx	Phase_I	122	15	NM_014470	0	0	0	0	0	A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987239	0.35036	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.69926	-0.44;-0.44	5.78	4.9	0.64082	.	0.055851	0.64402	D	0.000001	T	0.67859	0.2938	N	0.21583	0.68	0.58432	D	0.999999	D	0.63046	0.992	D	0.70716	0.97	T	0.66594	-0.5884	10	0.33940	T	0.23	0.3639	10.8765	0.46915	0.0:0.8479:0.0:0.1521	.	142	Q92730	RND1_HUMAN	H	36;142	ENSP00000447059:Q36H;ENSP00000308461:Q142H	ENSP00000308461:Q142H	Q	-	3	2	RND1	47541074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.608000	0.36847	1.597000	0.50072	0.655000	0.94253	CAG	.		0.547	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		A	49254807	C	A	49254807	3	1	9	1	0	0	0	0	1	0	0	0	13464	912	32	3	280	3	RND1	12	49254807	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	179638	49254807	84597088	446	2033											
ACCN2	41	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	50471033	50471033	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagtgctacacgttcaactCgggccgagatgggcggccgc	14	12	1	1	rs374170551		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:50471033C>A	ENST00000447966.2	+	4	825	c.596C>A	c.(595-597)tCg>tAg	p.S199*	ASIC1_ENST00000228468.4_Nonsense_Mutation_p.S199*|ASIC1_ENST00000552438.1_Nonsense_Mutation_p.S233*	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	199					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACGTTCAACTCGGGCCGAGAT	0.602																																					p.S233X		.											.	.	0			c.C698A						.						96	81	86					12																	50471033		2203	4300	6503	SO:0001587	stop_gained	41	exon2			TCAACTCGGGCCG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.596C>A	12.37:g.50471033C>A	ENSP00000400228:p.Ser199*	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	148	19	NM_001256830	0	0	0	0	0	A3KN86|E5KBL7|P78349|Q96CV2	Nonsense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	38	6.943200	0.97952	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	.	.	.	4.03	4.03	0.46877	.	0.079544	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0776	16.7487	0.85479	0.0:1.0:0.0:0.0	.	.	.	.	X	199;199;233	.	ENSP00000228468:S199X	S	+	2	0	ACCN2	48757300	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	7.596000	0.82721	2.258000	0.74832	0.561000	0.74099	TCG	.		0.602	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		A	50471033	C	A	50471033	4	1	9	1	0	0	0	0	0	1	0	0	129	893	31	2	606	2	ACCN2	12	50471033	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1216226	50471033	83380862	447	2034											
KRT74	121391	broad.mit.edu;bcgsc.ca	37	chr12	52967318	52967318	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccactggcccggccccctcCatacccagagccaggcctga	10	20	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:52967318C>A	ENST00000305620.2	-	1	291	c.244G>T	c.(244-246)Gga>Tga	p.G82*	KRT74_ENST00000549343.1_Nonsense_Mutation_p.G82*	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	82	Gly-rich.|Head.				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)		CGGCCCCCTCCATACCCAGAG	0.617																																					p.G82X		.											.	KRT74-92	0			c.G244T						.						41	48	46					12																	52967318		2203	4300	6503	SO:0001587	stop_gained	121391	exon1			CCCCTCCATACCC	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.244G>T	12.37:g.52967318C>A	ENSP00000307240:p.Gly82*	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_175053	0	0	0	0	0	B5MD61|Q86Y45	Nonsense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694619	0.96793	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	.	.	.	4.39	2.36	0.29203	.	0.233991	0.22254	N	0.062514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	9.1855	0.37168	0.1441:0.7764:0.0:0.0795	.	.	.	.	X	82	.	ENSP00000307240:G82X	G	-	1	0	KRT74	51253585	0.111000	0.22076	0.835000	0.33067	0.937000	0.57800	3.541000	0.53618	1.150000	0.42419	0.555000	0.69702	GGA	.		0.617	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		A	52967318	C	A	52967318	4	1	9	1	0	0	0	0	0	1	0	0	8514	603	21	3	1381	3	KRT74	12	52967318	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2496285	52967318	80884577	448	2035											
KRT72	140807	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52992834	52992834	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagttgttcaagtcCagctgctgtaggaggttcca	11	10	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:52992834C>A	ENST00000537672.2	-	2	499	c.489G>T	c.(487-489)ctG>ctT	p.L163L	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Silent_p.L163L|KRT72_ENST00000354310.4_Silent_p.L163L|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	163	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGTTCAAGTCCAGCTGCTGTA	0.572																																					p.L163L		.											.	KRT72-96	0			c.G489T						.						130	119	123					12																	52992834		2203	4300	6503	SO:0001819	synonymous_variant	140807	exon2			CAAGTCCAGCTGC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.489G>T	12.37:g.52992834C>A		Somatic	103	1		WXS	Illumina GAIIx	Phase_I	119	31	NM_001146225	0	0	0	0	0	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964323	0.18583	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8618	0.08999	0.0:0.5766:0.2322:0.1912	.	.	.	.	X	160	.	.	G	-	1	0	KRT72	51279101	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.606000	0.46291	2.838000	0.97847	0.561000	0.74099	GGA	.		0.572	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		A	52992834	C	A	52992834	2	1	9	1	0	0	0	0	0	0	0	1	8512	581	21	3		3	KRT72	12	52992834	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	25516	52992834	80859061	449	2036											
KRT3	3850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	53189266	53189266	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttgcccaatctgggggtcGatctccacattgaggggctg	13	11	2	1	rs369823813	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:53189266G>T	ENST00000417996.2	-	1	635	c.561C>A	c.(559-561)atC>atA	p.I187I	KRT3_ENST00000309505.3_Silent_p.I187I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	187	Head.			I -> T (in Ref. 1; CAA28991). {ECO:0000305}.	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						TCTGGGGGTCGATCTCCACAT	0.542																																					p.I187I		.											.	KRT3-90	0			c.C561A						.						74	96	89					12																	53189266		2203	4300	6503	SO:0001819	synonymous_variant	3850	exon1			GGGGTCGATCTCC		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.561C>A	12.37:g.53189266G>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	204	23	NM_057088	0	0	0	0	0	A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	CCDS44895.1																																																																																			.		0.542	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53189266	G	T	53189266	2	4	9	1	0	0	0	0	0	0	0	1	8493	1048	37	2		2	KRT3	12	53189266	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	196432	53189266	80662629	450	2037											
GPR84	53831	ucsc.edu	37	chr12	54756471	54756471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctatggaaactccgggGccctctttttaaaatggagc	11	10	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:54756471G>T	ENST00000551809.1	-	1	1800	c.1165C>A	c.(1165-1167)Ccc>Acc	p.P389T	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P389T|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	389						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAACTCCGGGGCCCTCTTTTT	0.512																																					p.P389T		.											.	GPR84-523	0			c.C1165A						.						151	175	167					12																	54756471		2202	4300	6502	SO:0001583	missense	53831	exon2			TCCGGGGCCCTCT	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1165C>A	12.37:g.54756471G>T	ENSP00000450310:p.Pro389Thr	Somatic	221	4		WXS	Illumina GAIIx	Phase_I	372	53	NM_020370	0	0	0	0	0	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	3.320	-0.139033	0.06669	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.36699	1.24;1.24	5.43	3.5	0.40072	.	0.286130	0.28257	N	0.016008	T	0.22704	0.0548	L	0.31207	0.915	0.28410	N	0.918225	B	0.06786	0.001	B	0.04013	0.001	T	0.10965	-1.0607	10	0.22706	T	0.39	-18.0744	7.733	0.28797	0.0881:0.0:0.7523:0.1597	.	389	Q9NQS5	GPR84_HUMAN	T	389	ENSP00000267015:P389T;ENSP00000450310:P389T	ENSP00000267015:P389T	P	-	1	0	GPR84	53042738	0.905000	0.30787	0.914000	0.36105	0.065000	0.16274	1.101000	0.31037	1.436000	0.47453	0.655000	0.94253	CCC	.		0.512	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			T	54756471	G	T	54756471	3	4	9	1	0	0	0	0	1	0	0	0	6740	1203	42	3	29	3	GPR84	12	54756471	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1567205	54756471	79095424	451	2038											
LACRT	90070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	55025610	55025610	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgttagtaagatacttttCtccactatggattctaattt	5	7	3	1	rs201410599		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:55025610C>A	ENST00000257867.4	-	4	320	c.267G>T	c.(265-267)gaG>gaT	p.E89D	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AGATACTTTTCTCCACTATGG	0.463																																					p.E89D		.											.	LACRT-90	0			c.G267T						.						176	159	165					12																	55025610		2203	4300	6503	SO:0001583	missense	90070	exon4			ACTTTTCTCCACT	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.267G>T	12.37:g.55025610C>A	ENSP00000257867:p.Glu89Asp	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	108	13	NM_033277	0	0	0	0	0		Missense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	C	5.502	0.277624	0.10403	.	.	ENSG00000135413	ENST00000257867	.	.	.	2.52	-0.74	0.11115	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.20184	0.028	T	0.26360	-1.0105	7	.	.	.	.	5.7578	0.18182	0.1888:0.3459:0.4653:0.0	.	89	Q9GZZ8	LACRT_HUMAN	D	89	.	.	E	-	3	2	LACRT	53311877	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.164000	0.01275	-0.164000	0.10927	0.462000	0.41574	GAG	C|0.999;T|0.001		0.463	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		A	55025610	C	A	55025610	3	1	9	1	0	0	0	0	1	0	0	0	8624	912	32	3	157	3	LACRT	12	55025610	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	269139	55025610	78826285	452	2039											
ESYT1	23344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56522216	56522216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcaaagccagacccaggttCtgggggccaacctgctggcc	13	15	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56522216C>A	ENST00000394048.5	+	1	377	c.113C>A	c.(112-114)tCt>tAt	p.S38Y	ESYT1_ENST00000267113.4_Missense_Mutation_p.S38Y|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.S38Y|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	38					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						GACCCAGGTTCTGGGGGCCAA	0.692																																					p.S38Y		.											.	ESYT1-95	0			c.C113A						.						48	52	51					12																	56522216		2199	4296	6495	SO:0001583	missense	23344	exon1			CAGGTTCTGGGGG	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.113C>A	12.37:g.56522216C>A	ENSP00000377612:p.Ser38Tyr	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	91	22	NM_015292	0	0	18	26	8	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347087	0.82022	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.56444	0.46;0.46;0.46	5.01	5.01	0.66863	.	0.487974	0.20656	N	0.088116	T	0.54175	0.1842	L	0.36672	1.1	0.09310	N	0.999995	P;P	0.47191	0.891;0.826	P;B	0.49999	0.628;0.424	T	0.52139	-0.8615	10	0.62326	D	0.03	-5.7667	15.6997	0.77535	0.0:1.0:0.0:0.0	.	38;38	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Y	38	ENSP00000377612:S38Y;ENSP00000267113:S38Y;ENSP00000445952:S38Y	ENSP00000267113:S38Y	S	+	2	0	ESYT1	54808483	0.016000	0.18221	0.060000	0.19600	0.162000	0.22319	2.583000	0.46094	2.779000	0.95612	0.561000	0.74099	TCT	.		0.692	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		A	56522216	C	A	56522216	3	1	9	1	0	0	0	0	1	0	0	0	5280	913	32	3	115	3	ESYT1	12	56522216	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1496606	56522216	77329679	453	2040											
PAN2	9924	ucsc.edu;bcgsc.ca	37	chr12	56716450	56716450	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgtgagccaccaggctGccccctgtgcgtgagtccag	13	13	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56716450G>T	ENST00000425394.2	-	18	2974	c.2598C>A	c.(2596-2598)ggC>ggA	p.G866G	PAN2_ENST00000548043.1_Silent_p.G866G|PAN2_ENST00000440411.3_Silent_p.G862G|PAN2_ENST00000257931.5_Silent_p.G865G	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCACCAGGCTGCCCCCTGTGC	0.587																																					p.G866G		.											.	PAN2-702	0			c.C2598A						.						108	90	97					12																	56716450		2203	4300	6503	SO:0001819	synonymous_variant	9924	exon18			CAGGCTGCCCCCT	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2598C>A	12.37:g.56716450G>T		Somatic	124	2		WXS	Illumina GAIIx	Phase_I	178	44	NM_001127460	0	0	8	12	4		Silent	SNP	ENST00000425394.2	37	CCDS44922.1																																																																																			.		0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		T	56716450	G	T	56716450	2	4	9	1	0	0	0	0	0	0	0	1	11453	1306	46	3		3	PAN2	12	56716450	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	194234	56716450	77135445	454	2041											
MIP	4284	broad.mit.edu;bcgsc.ca	37	chr12	56845152	56845152	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttggcacccttgaggacaGacagtctctcagaaatactc	9	11	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:56845152G>T	ENST00000257979.4	-	4	732	c.704C>A	c.(703-705)tCt>tAt	p.S235Y	MIP_ENST00000555551.1_5'Flank|TIMELESS_ENST00000553532.1_5'Flank|TIMELESS_ENST00000229201.4_5'Flank|TIMELESS_ENST00000554616.1_5'Flank	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	235	Interaction with CALM. {ECO:0000250}.				canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CTTGAGGACAGACAGTCTCTC	0.557																																					p.S235Y		.											.	MIP-91	0			c.C704A						.						91	91	91					12																	56845152		2203	4300	6503	SO:0001583	missense	4284	exon4			AGGACAGACAGTC		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.704C>A	12.37:g.56845152G>T	ENSP00000257979:p.Ser235Tyr	Somatic	161	2		WXS	Illumina GAIIx	Phase_I	211	20	NM_012064	0	0	4	4	0	Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918410	0.73098	.	.	ENSG00000135517	ENST00000257979	D	0.87887	-2.31	4.55	4.55	0.56014	Aquaporin-like (1);	0.119717	0.56097	D	0.000024	D	0.84056	0.5388	L	0.50333	1.59	0.49915	D	0.999838	P	0.46277	0.875	B	0.39339	0.297	D	0.87110	0.2184	10	0.72032	D	0.01	-14.5971	16.4785	0.84151	0.0:0.0:1.0:0.0	.	235	P30301	MIP_HUMAN	Y	235	ENSP00000257979:S235Y	ENSP00000257979:S235Y	S	-	2	0	MIP	55131419	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.601000	0.82783	2.234000	0.73211	0.555000	0.69702	TCT	.		0.557	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		T	56845152	G	T	56845152	3	4	9	1	0	0	0	0	1	0	0	0	9629	942	33	3	91	3	MIP	12	56845152	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	128702	56845152	77006743	455	2042											
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	72017939	72017939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaatatgtgcagctgaactCtaaacaaaagagcctctaaa	6	8	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:72017939C>A	ENST00000378743.3	-	23	4809	c.4451G>T	c.(4450-4452)aGa>aTa	p.R1484I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1484					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						CAGCTGAACTCTAAACAAAAG	0.393																																					p.R1484I		.											.	ZFC3H1-138	0			c.G4451T						.						175	170	171					12																	72017939		1831	4084	5915	SO:0001583	missense	196441	exon23			TGAACTCTAAACA	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.4451G>T	12.37:g.72017939C>A	ENSP00000368017:p.Arg1484Ile	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	78	28	NM_144982	0	0	2	6	4	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487491	0.84854	.	.	ENSG00000133858	ENST00000378743	T	0.33865	1.39	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.21518	-1.0243	10	0.25106	T	0.35	.	14.4406	0.67314	0.0:0.927:0.0:0.073	.	1484	O60293	ZC3H1_HUMAN	I	1484	ENSP00000368017:R1484I	ENSP00000368017:R1484I	R	-	2	0	ZFC3H1	70304206	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.215000	0.65241	2.520000	0.84964	0.655000	0.94253	AGA	.		0.393	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72017939	C	A	72017939	3	1	9	1	0	0	0	0	1	0	0	0	17681	913	32	3	1570	3	ZFC3H1	12	72017939	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15172787	72017939	61833956	456	2043											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75737704	75737704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcatgctccagagtctgtGgccattatacacaggtaaat	8	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:75737704G>T	ENST00000378695.4	+	2	496	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.G136C			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	136	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CAGAGTCTGTGGCCATTATAC	0.333																																					p.G136C		.											.	GLIPR1L1-90	0			c.G406T						.						79	78	78					12																	75737704		2203	4300	6503	SO:0001583	missense	256710	exon2			GTCTGTGGCCATT	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.406G>T	12.37:g.75737704G>T	ENSP00000367967:p.Gly136Cys	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	120	3	NM_152779	0	0	0	0	0	Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37		.	.	.	.	.	.	.	.	.	.	G	15.04	2.713780	0.48622	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.13196	2.61;2.61	4.69	3.79	0.43588	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.058355	0.64402	D	0.000002	T	0.54143	0.1840	H	0.98818	4.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71974	-0.4430	10	0.87932	D	0	.	12.579	0.56380	0.0:0.1672:0.8328:0.0	.	136;136	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	C	136	ENSP00000367967:G136C;ENSP00000310770:G136C	ENSP00000310770:G136C	G	+	1	0	GLIPR1L1	74023971	1.000000	0.71417	0.990000	0.47175	0.619000	0.37552	1.644000	0.37228	1.071000	0.40834	0.561000	0.74099	GGC	.		0.333	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		T	75737704	G	T	75737704	3	4	9	1	0	0	0	0	1	0	0	0	6468	1348	47	3	412	3	GLIPR1L1	12	75737704	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3719765	75737704	58114191	457	2044											
GLIPR1L2	144321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	75804245	75804245	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctttatcacggactgctaGagcatggggaaaaaaatgtt	11	6	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:75804245G>T	ENST00000550916.1	+	2	313	c.266G>T	c.(265-267)aGa>aTa	p.R89I	GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.R89I|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.R24I|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.R89I|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.R89I	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	89	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGACTGCTAGAGCATGGGGA	0.299																																					p.R89I		.											.	GLIPR1L2-91	0			c.G266T						.						81	81	81					12																	75804245		2202	4299	6501	SO:0001583	missense	144321	exon2			CTGCTAGAGCATG	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.266G>T	12.37:g.75804245G>T	ENSP00000448248:p.Arg89Ile	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	210	49	NM_152436	0	0	0	0	0	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548791	0.65311	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.04	3.18	0.36537	CAP domain (3);	0.055575	0.64402	D	0.000001	T	0.24275	0.0588	M	0.78223	2.4	0.46521	D	0.999082	D;D	0.89917	1.0;0.979	D;P	0.74348	0.983;0.817	T	0.00842	-1.1544	10	0.72032	D	0.01	.	7.3251	0.26551	0.2624:0.0:0.7375:0.0	.	89;89	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	I	89;89;89;89;24	ENSP00000448248:R89I;ENSP00000398328:R89I;ENSP00000317385:R89I;ENSP00000447980:R89I;ENSP00000405273:R24I	ENSP00000317385:R89I	R	+	2	0	GLIPR1L2	74090512	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.880000	0.28159	1.340000	0.45581	0.585000	0.79938	AGA	.		0.299	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		T	75804245	G	T	75804245	3	4	9	1	0	0	0	0	1	0	0	0	6469	942	33	3	272	3	GLIPR1L2	12	75804245	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	66541	75804245	58047650	458	2045											
ZDHHC17	23390	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	77209691	77209691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagttaaccttggtgaCaagtatcacaaaaacactgc	7	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:77209691C>A	ENST00000426126.2	+	7	1312	c.663C>A	c.(661-663)gaC>gaA	p.D221E	ZDHHC17_ENST00000359019.4_Missense_Mutation_p.D171E|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.D221E	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	221					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						ACCTTGGTGACAAGTATCACA	0.393																																					p.D221E		.											.	.	0			c.C663A						.						66	64	65					12																	77209691		1874	4100	5974	SO:0001583	missense	23390	exon7			TGGTGACAAGTAT	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.663C>A	12.37:g.77209691C>A	ENSP00000403397:p.Asp221Glu	Somatic	276	1		WXS	Illumina GAIIx	Phase_I	417	41	NM_015336	0	0	2	2	0	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720823	0.89205	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79704	-0.1692	10	0.87932	D	0	-12.0845	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	221	Q8IUH5	ZDH17_HUMAN	E	221;221;171;58	ENSP00000403397:D221E;ENSP00000334868:D221E;ENSP00000351913:D171E;ENSP00000449734:D58E	ENSP00000334868:D221E	D	+	3	2	ZDHHC17	75733822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.730000	0.62015	2.880000	0.98712	0.650000	0.86243	GAC	.		0.393	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		A	77209691	C	A	77209691	3	1	9	1	0	0	0	0	1	0	0	0	17655	477	17	3	689	3	ZDHHC17	12	77209691	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1405446	77209691	56642204	459	2046											
SLC6A15	55117	broad.mit.edu;bcgsc.ca	37	chr12	85266932	85266932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaacaccaccaatgttGccaggacagaagtgaaaaaa	8	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:85266932G>T	ENST00000266682.5	-	7	1584	c.1043C>A	c.(1042-1044)gCa>gAa	p.A348E	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A241E|SLC6A15_ENST00000309283.7_Missense_Mutation_p.A56E	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	348					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CACCAATGTTGCCAGGACAGA	0.393																																					p.A348E		.											.	SLC6A15-93	0			c.C1043A						.						143	136	139					12																	85266932		2203	4300	6503	SO:0001583	missense	55117	exon7			AATGTTGCCAGGA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1043C>A	12.37:g.85266932G>T	ENSP00000266682:p.Ala348Glu	Somatic	168	2		WXS	Illumina GAIIx	Phase_I	216	13	NM_182767	0	0	0	0	0	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.334612|5.334612	0.95758|0.95758	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612|ENST00000551388	T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-1.34|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.097095|.	0.64402|.	D|.	0.000001|.	D|D	0.90885|0.90885	0.7136|0.7136	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	D|D	0.93752|0.93752	0.7059|0.7059	10|6	0.87932|0.87932	D|D	0|0	.|.	19.8731|19.8731	0.96858|0.96858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	56;348|.	F8WJN6;Q9H2J7|.	.;S6A15_HUMAN|.	E|K	56;348;64;241;56;64|43	ENSP00000311645:A56E;ENSP00000266682:A348E;ENSP00000450145:A241E;ENSP00000449263:A64E|.	ENSP00000266682:A348E|ENSP00000449619:Q43K	A|Q	-|-	2|1	0|0	SLC6A15|SLC6A15	83791063|83791063	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	9.476000|9.476000	0.97823|0.97823	2.690000|2.690000	0.91761|0.91761	0.591000|0.591000	0.81541|0.81541	GCA|CAA	.		0.393	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		T	85266932	G	T	85266932	3	4	9	1	0	0	0	0	1	0	0	0	14723	1319	46	3	1173	3	SLC6A15	12	85266932	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8057241	85266932	48584963	460	2047											
DCN	1634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	91545457	91545457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacttatgctctgccagccCaccaggtactctggtaagct	9	13	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:91545457C>A	ENST00000052754.5	-	7	1360	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	DCN_ENST00000547568.2_Missense_Mutation_p.G140W|DCN_ENST00000393155.1_Missense_Mutation_p.G287W|DCN_ENST00000552962.1_Missense_Mutation_p.G287W|DCN_ENST00000420120.2_Missense_Mutation_p.G178W|DCN_ENST00000228329.5_Missense_Mutation_p.G178W|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.G140W|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	287					aging (GO:0007568)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCTGCCAGCCCACCAGGTACT	0.502																																					p.G287W		.											.	DCN-555	0			c.G859T						.						137	110	119					12																	91545457		2203	4300	6503	SO:0001583	missense	1634	exon7			CCAGCCCACCAGG	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.859G>T	12.37:g.91545457C>A	ENSP00000052754:p.Gly287Trp	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	160	17	NM_001920	0	0	8	8	0	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.955058|4.955058	0.92726|0.92726	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.04862|.	3.54;3.54;3.54;4.18;3.54;3.54;4.18;4.18|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82628|0.82628	0.5078|0.5078	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83144|0.83144	-0.0107|-0.0107	10|5	0.87932|.	D|.	0|.	.|.	19.5451|19.5451	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;140;178|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	W|L	287;178;287;140;287;178;140;140|56	ENSP00000052754:G287W;ENSP00000228329:G178W;ENSP00000376862:G287W;ENSP00000401021:G140W;ENSP00000447654:G287W;ENSP00000413723:G178W;ENSP00000447674:G140W;ENSP00000446530:G140W|.	ENSP00000052754:G287W|.	G|W	-|-	1|2	0|0	DCN|DCN	90069588|90069588	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.960000|0.960000	0.62799|0.62799	7.776000|7.776000	0.85560|0.85560	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GGG|TGG	.		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91545457	C	A	91545457	3	1	9	1	0	0	0	0	1	0	0	0	4306	594	21	3	228	3	DCN	12	91545457	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6278525	91545457	42306438	461	2048											
DCN	1634	broad.mit.edu	37	chr12	91546934	91546934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgctgattttgttgccatCaagatgtaattccgtaaggg	10	7	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:91546934C>A	ENST00000052754.5	-	6	1186	c.685G>T	c.(685-687)Gat>Tat	p.D229Y	DCN_ENST00000547568.2_Missense_Mutation_p.D82Y|DCN_ENST00000393155.1_Missense_Mutation_p.D229Y|DCN_ENST00000552962.1_Missense_Mutation_p.D229Y|DCN_ENST00000420120.2_Missense_Mutation_p.D120Y|DCN_ENST00000228329.5_Missense_Mutation_p.D120Y|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.D82Y|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	229					aging (GO:0007568)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTGTTGCCATCAAGATGTAAT	0.353																																					p.D229Y		.											.	DCN-555	0			c.G685T						.						140	132	135					12																	91546934		2203	4300	6503	SO:0001583	missense	1634	exon6			TGCCATCAAGATG	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.685G>T	12.37:g.91546934C>A	ENSP00000052754:p.Asp229Tyr	Somatic	129	2		WXS	Illumina GAIIx	Phase_I	146	16	NM_001920	0	0	8	8	0	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779672	0.90195	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.096890	0.64402	D	0.000001	T	0.67040	0.2851	N	0.25485	0.75	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.989;0.992;0.994	T	0.71300	-0.4634	10	0.87932	D	0	.	19.0061	0.92851	0.0:1.0:0.0:0.0	.	229;82;120	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	Y	229;120;229;82;229;120;82;82	ENSP00000052754:D229Y;ENSP00000228329:D120Y;ENSP00000376862:D229Y;ENSP00000401021:D82Y;ENSP00000447654:D229Y;ENSP00000413723:D120Y;ENSP00000447674:D82Y;ENSP00000446530:D82Y	ENSP00000052754:D229Y	D	-	1	0	DCN	90071065	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.818000	0.86416	2.497000	0.84241	0.591000	0.81541	GAT	.		0.353	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91546934	C	A	91546934	3	1	9	1	0	0	0	0	1	0	0	0	4306	826	29	3	406	3	DCN	12	91546934	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1477	91546934	42304961	462	2049											
PLEKHG7	440107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	93149662	93149662	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatttagatatctacaggaGattatagtgtggccaccgct	9	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:93149662G>T	ENST00000344636.3	+	7	736	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	184							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						ATCTACAGGAGATTATAGTGT	0.358																																					p.E184D		.											.	PLEKHG7-23	0			c.G552T						.						75	81	79					12																	93149662		2203	4300	6503	SO:0001583	missense	440107	exon7			ACAGGAGATTATA	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.552G>T	12.37:g.93149662G>T	ENSP00000344961:p.Glu184Asp	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	142	45	NM_001004330	0	0	0	0	0	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080659	0.36758	.	.	ENSG00000187510	ENST00000344636	T	0.68624	-0.34	5.29	3.4	0.38934	Dbl homology (DH) domain (2);	0.148735	0.64402	N	0.000013	T	0.53867	0.1823	L	0.45581	1.43	0.38384	D	0.945215	B	0.23490	0.086	B	0.20955	0.032	T	0.50092	-0.8868	10	0.22109	T	0.4	-28.1763	8.2444	0.31680	0.1424:0.1313:0.7263:0.0	.	184	Q6ZR37	PKHG7_HUMAN	D	184	ENSP00000344961:E184D	ENSP00000344961:E184D	E	+	3	2	PLEKHG7	91673793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.159000	0.31749	1.178000	0.42870	0.561000	0.74099	GAG	.		0.358	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		T	93149662	G	T	93149662	3	4	9	1	0	0	0	0	1	0	0	0	12114	933	33	3	574	3	PLEKHG7	12	93149662	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1602728	93149662	40702233	463	2050											
NR2C1	7181	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	95434275	95434275	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agagcctggaaagaaggaatCgaaagtgcccagtgcattga	13	7	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:95434275C>A	ENST00000333003.5	-	10	1560	c.1230G>T	c.(1228-1230)tcG>tcT	p.S410S	NR2C1_ENST00000330677.7_Silent_p.S410S|NR2C1_ENST00000393101.3_Silent_p.S410S|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	410					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						AAGAAGGAATCGAAAGTGCCC	0.413																																					p.S410S		.											.	NR2C1-187	0			c.G1230T						.						102	86	92					12																	95434275		2203	4300	6503	SO:0001819	synonymous_variant	7181	exon10			AGGAATCGAAAGT	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.1230G>T	12.37:g.95434275C>A		Somatic	221	0		WXS	Illumina GAIIx	Phase_I	241	21	NM_001032287	0	0	12	13	1	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438880	0.25900	.	.	ENSG00000120798	ENST00000551647	.	.	.	6.06	-6.68	0.01778	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	4	.	.	.	.	3.3513	0.07154	0.1453:0.1166:0.4067:0.3314	.	.	.	.	Y	34	.	.	D	-	1	0	NR2C1	93958406	0.882000	0.30256	0.801000	0.32222	0.966000	0.64601	-0.050000	0.11904	-1.106000	0.03008	0.655000	0.94253	GAT	.		0.413	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95434275	C	A	95434275	2	1	9	1	0	0	0	0	0	0	0	1	10661	871	31	2		2	NR2C1	12	95434275	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2284613	95434275	38417620	464	2051											
USP44	84101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	95911959	95911959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatttcattagacgaggtatCagcgtcttcattgggatgtt	11	6	4	1	rs367906455		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:95911959C>T	ENST00000258499.3	-	6	2398	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000393091.2_Missense_Mutation_p.D704N|USP44_ENST00000537435.2_Missense_Mutation_p.D704N	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	704					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GACGAGGTATCAGCGTCTTCA	0.373																																					p.D704N		.											.	USP44-658	0			c.G2110A						.						106	106	106					12																	95911959		2203	4300	6503	SO:0001583	missense	84101	exon6			AGGTATCAGCGTC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2110G>A	12.37:g.95911959C>T	ENSP00000258499:p.Asp704Asn	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	106	17	NM_032147	0	0	0	0	0	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287455	0.23478	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.04970	3.52;3.52;3.52	5.89	3.74	0.42951	.	0.342131	0.24165	N	0.040954	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	10	0.36615	T	0.2	.	10.5262	0.44950	0.0:0.7783:0.0:0.2217	.	704	Q9H0E7	UBP44_HUMAN	N	704	ENSP00000258499:D704N;ENSP00000376806:D704N;ENSP00000442629:D704N	ENSP00000258499:D704N	D	-	1	0	USP44	94436090	0.046000	0.20272	0.829000	0.32907	0.172000	0.22775	1.853000	0.39358	1.507000	0.48752	0.555000	0.69702	GAT	.		0.373	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		T	95911959	C	T	95911959	3	4	9	1	0	0	0	0	1	0	0	0	17124	826	29	3	32	3	USP44	12	95911959	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	477684	95911959	37939936	465	2052											
PRDM4	11108	broad.mit.edu;bcgsc.ca	37	chr12	108133237	108133237	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtaatcacacttaagattCttctccccagtgtggataac	6	11	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:108133237C>A	ENST00000228437.5	-	11	2475	c.2016G>T	c.(2014-2016)aaG>aaT	p.K672N	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	672					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						ACTTAAGATTCTTCTCCCCAG	0.493																																					p.K672N		.											.	PRDM4-154	0			c.G2016T						.						145	120	128					12																	108133237		2203	4300	6503	SO:0001583	missense	11108	exon11			AAGATTCTTCTCC	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.2016G>T	12.37:g.108133237C>A	ENSP00000228437:p.Lys672Asn	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	173	20	NM_012406	0	0	32	34	2	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821988	0.71028	.	.	ENSG00000110851	ENST00000228437	T	0.26067	1.76	5.59	4.69	0.59074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.091060	0.85682	N	0.000000	T	0.32763	0.0840	M	0.83384	2.64	0.52099	D	0.999949	B	0.21452	0.056	B	0.15052	0.012	T	0.20638	-1.0269	10	0.87932	D	0	.	10.7608	0.46264	0.0:0.7964:0.1329:0.0706	.	672	Q9UKN5	PRDM4_HUMAN	N	672	ENSP00000228437:K672N	ENSP00000228437:K672N	K	-	3	2	PRDM4	106657367	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.321000	0.51999	1.331000	0.45412	0.650000	0.86243	AAG	.		0.493	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		A	108133237	C	A	108133237	3	1	9	1	0	0	0	0	1	0	0	0	12501	912	32	3	397	3	PRDM4	12	108133237	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	12221278	108133237	25718658	466	2053											
SART3	9733	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	108931880	108931880	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactccatgtctctccatggCcaagaggtaccgactccata	7	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:108931880C>G	ENST00000228284.3	-	8	1396	c.1162G>C	c.(1162-1164)Gcc>Ccc	p.A388P	SART3_ENST00000431469.2_Missense_Mutation_p.A388P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	388					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTCCATGGCCAAGAGGTAC	0.443									Porokeratosis																												p.A388P		.											.	SART3-91	0			c.G1162C						.						111	109	109					12																	108931880		2203	4300	6503	SO:0001583	missense	9733	exon8	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	CCATGGCCAAGAG	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1162G>C	12.37:g.108931880C>G	ENSP00000228284:p.Ala388Pro	Somatic	85	1		WXS	Illumina GAIIx	Phase_I	183	41	NM_014706	0	0	8	18	10	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559205	0.96514	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.35048	1.33;1.33;1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.987;0.987	T	0.66035	-0.6023	10	0.48119	T	0.1	-22.9536	20.8598	0.99761	0.0:1.0:0.0:0.0	.	336;406;388;388	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	P	388;388;336;406	ENSP00000228284:A388P;ENSP00000414453:A388P;ENSP00000449386:A406P	ENSP00000228284:A388P	A	-	1	0	SART3	107456010	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.763000	0.68818	2.937000	0.99478	0.650000	0.86243	GCC	.		0.443	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			G	108931880	C	G	108931880	3	3	9	1	0	0	0	0	1	0	0	0	13892	739	26	3	1777	3	SART3	12	108931880	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	798643	108931880	24920015	467	2054											
ACACB	32	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	109660636	109660636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccacctcccctcctacgaGctgcggcataaccaggtgga	9	17	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:109660636G>T	ENST00000338432.7	+	26	3830	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	ACACB_ENST00000377854.5_Missense_Mutation_p.E1167D|ACACB_ENST00000377848.3_Missense_Mutation_p.E1237D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1237					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)	CCTCCTACGAGCTGCGGCATA	0.627																																					p.E1237D		.											.	ACACB-98	0			c.G3711T						.						89	66	73					12																	109660636		2203	4300	6503	SO:0001583	missense	32	exon25			CTACGAGCTGCGG	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.3711G>T	12.37:g.109660636G>T	ENSP00000341044:p.Glu1237Asp	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	135	47	NM_001093	0	0	6	11	5	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566543	0.45694	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.48836	0.8;0.8;0.8	4.96	2.73	0.32206	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.81942	2.565	0.80722	D	1	B	0.22541	0.071	B	0.33690	0.168	T	0.54589	-0.8271	10	0.56958	D	0.05	.	7.2028	0.25891	0.3642:0.0:0.6358:0.0	.	1237	O00763	ACACB_HUMAN	D	1237;1237;1167;468	ENSP00000341044:E1237D;ENSP00000367079:E1237D;ENSP00000367085:E1167D	ENSP00000341044:E1237D	E	+	3	2	ACACB	108145019	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.786000	0.38694	1.228000	0.43614	0.650000	0.86243	GAG	.		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109660636	G	T	109660636	3	4	9	1	0	0	0	0	1	0	0	0	107	962	34	3	3809	3	ACACB	12	109660636	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	728756	109660636	24191259	468	2055											
TRPV4	59341	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	110230204	110230204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaagagcaagtagacgaGcaggaatcggaaaaggtcct	13	7	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:110230204G>T	ENST00000418703.2	-	11	1949	c.1855C>A	c.(1855-1857)Ctc>Atc	p.L619I	TRPV4_ENST00000536838.1_Missense_Mutation_p.L585I|TRPV4_ENST00000537083.1_Missense_Mutation_p.L559I|TRPV4_ENST00000346520.2_Missense_Mutation_p.L559I|TRPV4_ENST00000544971.1_Missense_Mutation_p.L512I|TRPV4_ENST00000541794.1_Missense_Mutation_p.L572I|TRPV4_ENST00000392719.2_Missense_Mutation_p.L572I|TRPV4_ENST00000261740.2_Missense_Mutation_p.L619I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	619					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						AAGTAGACGAGCAGGAATCGG	0.532																																					p.L619I		.											.	TRPV4-94	0			c.C1855A						.						78	75	76					12																	110230204		2203	4300	6503	SO:0001583	missense	59341	exon12			AGACGAGCAGGAA	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.1855C>A	12.37:g.110230204G>T	ENSP00000406191:p.Leu619Ile	Somatic	107	2		WXS	Illumina GAIIx	Phase_I	118	28	NM_021625	0	0	1	1	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390988	0.82902	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.63	4.73	0.59995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.81942	2.565	0.58432	D	0.999997	D;D;D;B;P	0.89917	0.999;1.0;0.999;0.364;0.746	D;D;D;B;P	0.91635	0.996;0.999;0.996;0.343;0.561	D	0.89193	0.3552	10	0.24483	T	0.36	-5.0613	14.0711	0.64861	0.0738:0.0:0.9262:0.0	.	559;619;512;572;585	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	I	619;619;572;559;512;559;572;585	ENSP00000406191:L619I;ENSP00000261740:L619I;ENSP00000376480:L572I;ENSP00000319003:L559I;ENSP00000443611:L512I;ENSP00000442738:L559I;ENSP00000442167:L572I;ENSP00000444336:L585I	ENSP00000261740:L619I	L	-	1	0	TRPV4	108714587	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.422000	0.59854	2.659000	0.90383	0.563000	0.77884	CTC	.		0.532	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		T	110230204	G	T	110230204	3	4	9	1	0	0	0	0	1	0	0	0	16646	971	34	3	780	3	TRPV4	12	110230204	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	569568	110230204	23621691	469	2056											
HVCN1	84329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	111098996	111098996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgtgggagctgaacagtttCctcaacatgcccctgaagtc	10	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:111098996C>A	ENST00000356742.5	-	3	1032	c.279G>T	c.(277-279)agG>agT	p.R93S	HVCN1_ENST00000242607.8_Missense_Mutation_p.R93S|HVCN1_ENST00000439744.2_Missense_Mutation_p.R73S|HVCN1_ENST00000548312.1_Missense_Mutation_p.R93S			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	93					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGAACAGTTTCCTCAACATGC	0.657																																					p.R93S		.											.	HVCN1-91	0			c.G279T						.						53	59	57					12																	111098996		2203	4300	6503	SO:0001583	missense	84329	exon4			CAGTTTCCTCAAC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.279G>T	12.37:g.111098996C>A	ENSP00000349181:p.Arg93Ser	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	301	76	NM_032369	0	0	2	2	0	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.739235	0.49045	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.49139	0.8;0.79;0.79;0.8	5.41	3.52	0.40303	.	0.246767	0.42420	D	0.000704	T	0.44030	0.1274	M	0.78637	2.42	0.35583	D	0.806467	B;P	0.39480	0.376;0.675	B;B	0.36666	0.122;0.23	T	0.56038	-0.8045	10	0.37606	T	0.19	-25.6133	7.1684	0.25704	0.0:0.6762:0.1307:0.1931	.	93;93	Q96D96;Q96D96-3	HVCN1_HUMAN;.	S	93;93;93;73	ENSP00000449601:R93S;ENSP00000242607:R93S;ENSP00000349181:R93S;ENSP00000412052:R73S	ENSP00000242607:R93S	R	-	3	2	HVCN1	109583379	0.999000	0.42202	1.000000	0.80357	0.631000	0.37964	0.501000	0.22578	1.484000	0.48361	0.558000	0.71614	AGG	.		0.657	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		A	111098996	C	A	111098996	3	1	9	1	0	0	0	0	1	0	0	0	7489	854	30	3	562	3	HVCN1	12	111098996	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	868792	111098996	22752899	470	2057											
MAP1LC3B2	643246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	117013934	117013934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatgtcaacatgagtgagCtcatcaagataattagaagg	9	7	3	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:117013934C>A	ENST00000556529.1	+	1	279	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.L63I			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	63					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						CATGAGTGAGCTCATCAAGAT	0.458																																					p.L63I		.											.	MAP1LC3B2-68	0			c.C187A						.						158	151	154					12																	117013934		2203	4300	6503	SO:0001583	missense	643246	exon2			AGTGAGCTCATCA		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.187C>A	12.37:g.117013934C>A	ENSP00000450524:p.Leu63Ile	Somatic	373	0		WXS	Illumina GAIIx	Phase_I	424	124	NM_001085481	0	0	247	248	1		Missense_Mutation	SNP	ENST00000556529.1	37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	18.23	3.578312	0.65878	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.51325	0.71;0.71	2.39	2.39	0.29439	.	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	M	0.77103	2.36	0.46678	D	0.999153	D	0.61697	0.99	D	0.69824	0.966	T	0.69390	-0.5158	10	0.87932	D	0	-0.802	10.6017	0.45371	0.0:1.0:0.0:0.0	.	63	A6NCE7	MP3B2_HUMAN	I	63	ENSP00000305059:L63I;ENSP00000450524:L63I	ENSP00000305059:L63I	L	+	1	0	MAP1LC3B2	115498317	1.000000	0.71417	0.814000	0.32528	0.863000	0.49368	2.699000	0.47077	1.376000	0.46267	0.375000	0.23000	CTC	.		0.458	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		A	117013934	C	A	117013934	3	1	9	1	0	0	0	0	1	0	0	0	9270	797	28	3	189	3	MAP1LC3B2	12	117013934	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5914938	117013934	16837961	471	2058											
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	120567240	120567240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagtgggtccttatttGcccaccagatcatcttctca	9	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:120567240G>T	ENST00000300648.6	-	57	7742	c.7730C>A	c.(7729-7731)gCa>gAa	p.A2577E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2577					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)					GTCCTTATTTGCCCACCAGAT	0.537																																					p.A2577E		.											.	GCN1L1-94	0			c.C7730A						.						180	183	182					12																	120567240		1978	4138	6116	SO:0001583	missense	10985	exon57			TTATTTGCCCACC	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.7730C>A	12.37:g.120567240G>T	ENSP00000300648:p.Ala2577Glu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	112	14	NM_006836	0	0	54	68	14	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227655	0.58668	.	.	ENSG00000089154	ENST00000300648	T	0.32988	1.43	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.063875	0.64402	D	0.000007	T	0.36138	0.0956	L	0.60455	1.87	0.58432	D	0.999992	B	0.20780	0.048	B	0.17979	0.02	T	0.11372	-1.0590	10	0.56958	D	0.05	-8.8637	19.6809	0.95962	0.0:0.0:1.0:0.0	.	2577	Q92616	GCN1L_HUMAN	E	2577	ENSP00000300648:A2577E	ENSP00000300648:A2577E	A	-	2	0	GCN1L1	119051623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.943000	0.75934	2.644000	0.89710	0.655000	0.94253	GCA	.		0.537	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120567240	G	T	120567240	3	4	9	1	0	0	0	0	1	0	0	0	6324	1319	46	3	293	3	GCN1L1	12	120567240	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3553306	120567240	13284655	472	2059											
SIRT4	23409	broad.mit.edu	37	chr12	120750304	120750304	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagactccccggggggtgctGcaagagcgtttccaagtcct	13	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:120750304G>T	ENST00000202967.4	+	3	602	c.543G>T	c.(541-543)ctG>ctT	p.L181L	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGGGTGCTGCAAGAGCGTT	0.592																																					p.L181L		.											.	SIRT4-226	0			c.G543T						.						79	83	82					12																	120750304		2203	4300	6503	SO:0001819	synonymous_variant	23409	exon3			GGTGCTGCAAGAG	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.543G>T	12.37:g.120750304G>T		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_012240	0	0	14	14	0		Silent	SNP	ENST00000202967.4	37	CCDS9194.1																																																																																			.		0.592	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		T	120750304	G	T	120750304	2	4	9	1	0	0	0	0	0	0	0	1	14385	1306	46	3		3	SIRT4	12	120750304	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	183064	120750304	13101591	473	2060											
MLXIP	22877	bcgsc.ca	37	chr12	122623075	122623075	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggcggctgcgggaggagatCgaggagctcaatgccaccat	16	11	1	1	rs370845887		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:122623075C>A	ENST00000319080.7	+	14	2493	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	MLXIP_ENST00000538698.1_Silent_p.I394I					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632																																					p.I787I	Esophageal Squamous(105;787 1493 16200 18566 52466)	.											.	MLXIP-92	0			c.C2361A						.						27	34	31					12																	122623075		2180	4275	6455	SO:0001819	synonymous_variant	22877	exon14			GGAGATCGAGGAG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2361C>A	12.37:g.122623075C>A		Somatic	138	2		WXS	Illumina GAIIx	Phase_I	196	16	NM_014938	0	0	14	15	1		Silent	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	C	10.69	1.422433	0.25639	.	.	ENSG00000175727	ENST00000542417	.	.	.	5.03	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.4368	7.0227	0.24922	0.0:0.469:0.1157:0.4153	.	.	.	.	X	123	.	.	S	+	2	0	MLXIP	121189028	0.050000	0.20438	0.997000	0.53966	0.972000	0.66771	-0.672000	0.05244	-0.082000	0.12640	-0.258000	0.10820	TCG	.		0.632	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		A	122623075	C	A	122623075	2	1	9	1	0	0	0	0	0	0	0	1	9674	874	31	2		2	MLXIP	12	122623075	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1872771	122623075	11228820	474	2061											
SBNO1	55206	broad.mit.edu	37	chr12	123782680	123782680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacgaagacctatttcaCaaactagccccaagcttgct	7	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:123782680C>A	ENST00000602398.1	-	31	4011	c.3884G>T	c.(3883-3885)tGt>tTt	p.C1295F	SBNO1_ENST00000267176.4_Missense_Mutation_p.C1294F|SBNO1_ENST00000420886.2_Missense_Mutation_p.C1295F|SBNO1_ENST00000602750.1_Missense_Mutation_p.C1294F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1295					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACCTATTTCACAAACTAGCCC	0.413																																					p.C1295F		.											.	SBNO1-292	0			c.G3884T						.						105	93	97					12																	123782680		2203	4300	6503	SO:0001583	missense	55206	exon30			ATTTCACAAACTA	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3884G>T	12.37:g.123782680C>A	ENSP00000473665:p.Cys1295Phe	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	113	7	NM_001167856	0	0	29	29	0	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273554	0.80580	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83992	-1.79;-1.79	6.03	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	M	0.89904	3.07	0.80722	D	1	P;P	0.44195	0.736;0.828	B;B	0.41988	0.205;0.372	D	0.90341	0.4359	10	0.87932	D	0	-11.1563	17.4903	0.87701	0.0:0.8765:0.1235:0.0	.	1295;1294	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1295;1294	ENSP00000387361:C1295F;ENSP00000267176:C1294F	ENSP00000267176:C1294F	C	-	2	0	SBNO1	122348633	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.034000	0.70933	2.880000	0.98712	0.650000	0.86243	TGT	.		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		A	123782680	C	A	123782680	3	1	9	1	0	0	0	0	1	0	0	0	13907	478	17	3	305	3	SBNO1	12	123782680	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1159605	123782680	10069215	475	2062											
DNAH10	196385	broad.mit.edu;ucsc.edu	37	chr12	124256213	124256213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagagaggatgaagaaatgGacaaagagatttcagaaaaa	11	3	1	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124256213G>T	ENST00000409039.3	+	3	206	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	61	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGAAATGGACAAAGAGAT	0.443																																					p.D61Y		.											.	DNAH10-95	0			c.G181T						.						85	78	80					12																	124256213		1853	4089	5942	SO:0001583	missense	196385	exon3			GAAATGGACAAAG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.181G>T	12.37:g.124256213G>T	ENSP00000386770:p.Asp61Tyr	Somatic	98	2		WXS	Illumina GAIIx	Phase_I	89	10	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185655	0.00305	.	.	ENSG00000197653	ENST00000409039	T	0.23552	1.9	3.85	0.692	0.18050	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.19391	0.025	T	0.25779	-1.0122	9	0.56958	D	0.05	.	9.0367	0.36291	0.0:0.2923:0.561:0.1467	.	61	Q8IVF4	DYH10_HUMAN	Y	61	ENSP00000386770:D61Y	ENSP00000386770:D61Y	D	+	1	0	DNAH10	122822166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.037000	0.12164	-0.249000	0.09569	-1.273000	0.01405	GAC	.		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124256213	G	T	124256213	3	4	9	1	0	0	0	0	1	0	0	0	4612	1174	41	3	191	3	DNAH10	12	124256213	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	473533	124256213	9595682	476	2063											
DNAH10	196385	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	124317840	124317840	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatttgtggggccttttctGcaaactgttcacaaatggga	11	7	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124317840G>T	ENST00000409039.3	+	26	4396	c.4371G>T	c.(4369-4371)ctG>ctT	p.L1457L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1457	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCTTTTCTGCAAACTGTTC	0.428																																					p.L1457L		.											.	DNAH10-95	0			c.G4371T						.						63	60	61					12																	124317840		1872	4107	5979	SO:0001819	synonymous_variant	196385	exon26			TTTTCTGCAAACT	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4371G>T	12.37:g.124317840G>T		Somatic	180	1		WXS	Illumina GAIIx	Phase_I	191	40	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			.		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124317840	G	T	124317840	2	4	9	1	0	0	0	0	0	0	0	1	4612	1306	46	3		3	DNAH10	12	124317840	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	61627	124317840	9534055	477	2064											
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	124399087	124399087	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctgctcacggatgatgttGagatcagcaggtgtgtggca	15	8	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:124399087G>T	ENST00000409039.3	+	60	10235	c.10210G>T	c.(10210-10212)Gag>Tag	p.E3404*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3404	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGATGTTGAGATCAGCAG	0.602																																					p.E3404X		.											.	DNAH10-95	0			c.G10210T						.						32	35	34					12																	124399087		2034	4176	6210	SO:0001587	stop_gained	196385	exon60			GATGTTGAGATCA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10210G>T	12.37:g.124399087G>T	ENSP00000386770:p.Glu3404*	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	77	13	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.803823|16.803823	0.99872|0.99872	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000409039|ENST00000540041	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74612	.|0.3739	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74031	.|-0.3795	.|3	0.12103|.	T|.	0.63|.	.|.	18.596|18.596	0.91229|0.91229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	3404|331	.|.	ENSP00000386770:E3404X|.	E|L	+|+	1|3	0|2	DNAH10|DNAH10	122965040|122965040	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.328000|0.328000	0.28507|0.28507	9.553000|9.553000	0.98118|0.98118	2.361000|2.361000	0.80049|0.80049	0.561000|0.561000	0.74099|0.74099	GAG|TTG	.		0.602	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124399087	G	T	124399087	4	4	9	1	0	0	0	0	0	1	0	0	4612	1291	45	3	10448	3	DNAH10	12	124399087	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	81247	124399087	9452808	478	2065											
DHX37	57647	broad.mit.edu;bcgsc.ca	37	chr12	125448959	125448959	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgtagcagtggccgggctCcgtccgtcctgctctgcccg	13	17	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:125448959C>A	ENST00000308736.2	-	15	2124	c.2026G>T	c.(2026-2028)Gag>Tag	p.E676*	DHX37_ENST00000544745.1_Nonsense_Mutation_p.E463*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	676	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGCCGGGCTCCGTCCGTCCT	0.637																																					p.E676X		.											.	DHX37-227	0			c.G2026T						.						68	67	67					12																	125448959		2203	4300	6503	SO:0001587	stop_gained	57647	exon15			CGGGCTCCGTCCG	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.2026G>T	12.37:g.125448959C>A	ENSP00000311135:p.Glu676*	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	70	6	NM_032656	0	0	1	1	0	Q9BUI7|Q9P211	Nonsense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587278	0.98374	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-15.0749	18.2623	0.90039	0.0:1.0:0.0:0.0	.	.	.	.	X	676;463	.	ENSP00000311135:E676X	E	-	1	0	DHX37	124014912	1.000000	0.71417	0.989000	0.46669	0.872000	0.50106	5.699000	0.68310	2.419000	0.82065	0.462000	0.41574	GAG	.		0.637	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		A	125448959	C	A	125448959	4	1	9	1	0	0	0	0	0	1	0	0	4524	864	30	3	1499	3	DHX37	12	125448959	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1049872	125448959	8402936	479	2066											
TMEM132D	121256	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	129559056	129559056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggaggtccacctgggctggGaagctggtgaggtcgctggg	21	8	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr12:129559056G>T	ENST00000422113.2	-	9	2990	c.2664C>A	c.(2662-2664)ttC>ttA	p.F888L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F426L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	888					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)		CCTGGGCTGGGAAGCTGGTGA	0.537																																					p.F888L		.											.	TMEM132D-106	0			c.C2664A						.						91	86	88					12																	129559056		2203	4300	6503	SO:0001583	missense	121256	exon9			GGCTGGGAAGCTG	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.2664C>A	12.37:g.129559056G>T	ENSP00000408581:p.Phe888Leu	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	66	26	NM_133448	0	0	0	0	0	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210777	0.39102	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10477	2.87;3.65	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000003	T	0.15869	0.0382	M	0.76002	2.32	0.47214	D	0.999355	P;B	0.49559	0.925;0.016	B;B	0.43889	0.435;0.02	T	0.01810	-1.1269	9	.	.	.	-18.1583	10.3528	0.43945	0.093:0.0:0.907:0.0	.	888;426	Q14C87;Q14C87-2	T132D_HUMAN;.	L	426;888	ENSP00000374092:F426L;ENSP00000408581:F888L	.	F	-	3	2	TMEM132D	128125009	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	2.430000	0.44766	1.967000	0.57214	0.313000	0.20887	TTC	.		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129559056	G	T	129559056	3	4	9	1	0	0	0	0	1	0	0	0	16094	1165	41	3	639	3	TMEM132D	12	129559056	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4110097	129559056	4292839	480	2067											
PARP4	143	hgsc.bcm.edu;broad.mit.edu	37	chr13	25016806	25016806	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttaataatcagagatttCaaggtttgttttttcatcta	6	4	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:25016806C>A	ENST00000381989.3	-	29	3570	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1155					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)		TCAGAGATTTCAAGGTTTGTT	0.289																																					p.L1155F		.											.	PARP4-94	0			c.G3465T						.						62	65	64					13																	25016806		2200	4295	6495	SO:0001583	missense	143	exon29			AGATTTCAAGGTT	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.3465G>T	13.37:g.25016806C>A	ENSP00000371419:p.Leu1155Phe	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	105	6	NM_006437	0	0	15	15	0	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	16.94	3.260156	0.59321	.	.	ENSG00000102699	ENST00000381989	T	0.63913	-0.07	4.65	2.72	0.32119	.	0.203527	0.32416	N	0.006131	T	0.66066	0.2752	L	0.55834	1.745	0.33050	D	0.532609	D	0.60160	0.987	P	0.59825	0.864	T	0.71464	-0.4585	10	0.66056	D	0.02	-5.675	5.5167	0.16910	0.0:0.6636:0.0:0.3364	.	1155	Q9UKK3	PARP4_HUMAN	F	1155	ENSP00000371419:L1155F	ENSP00000371419:L1155F	L	-	3	2	PARP4	23914806	1.000000	0.71417	0.958000	0.39756	0.980000	0.70556	2.344000	0.44010	0.459000	0.27016	0.650000	0.86243	TTG	.		0.289	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		A	25016806	C	A	25016806	3	1	9	1	0	0	0	0	1	0	0	0	11502	825	29	3	1733	3	PARP4	13	25016806	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		25016806	90153072	481	2068											
ATP8A2	51761	broad.mit.edu	37	chr13	26411330	26411330	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgccgcccttcactctGggaatctttgagaggtcttg	11	11	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:26411330G>T	ENST00000381655.2	+	29	2926	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.L863L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	888					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTTCACTCTGGGAATCTTTG	0.498																																					p.L928L		.											.	ATP8A2-138	0			c.G2784T						.						122	118	119					13																	26411330		1901	4123	6024	SO:0001819	synonymous_variant	51761	exon29			CACTCTGGGAATC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2784G>T	13.37:g.26411330G>T		Somatic	87	2		WXS	Illumina GAIIx	Phase_I	79	19	NM_016529	0	0	0	1	1	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																			.		0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26411330	G	T	26411330	2	4	9	1	0	0	0	0	0	0	0	1	1194	1335	47	3		3	ATP8A2	13	26411330	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1394524	26411330	88758548	482	2069											
B3GALTL	145173	bcgsc.ca	37	chr13	31843387	31843387	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagtgaatccttgaaatcCgactttacaatagatttaaa	6	6	0	4	rs375641560		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:31843387C>A	ENST00000343307.4	+	8	782	c.633C>A	c.(631-633)tcC>tcA	p.S211S	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	211					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CCTTGAAATCCGACTTTACAA	0.294																																					p.S211S		.											.	B3GALTL-92	0			c.C633A						.						70	69	69					13																	31843387		2201	4298	6499	SO:0001819	synonymous_variant	145173	exon8			GAAATCCGACTTT	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.633C>A	13.37:g.31843387C>A		Somatic	42	2		WXS	Illumina GAIIx	Phase_I	33	32	NM_194318	0	0	1	1	0	A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	CCDS9341.1																																																																																			.		0.294	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		A	31843387	C	A	31843387	2	1	9	1	0	0	0	0	0	0	0	1	1253	639	23	2		2	B3GALTL	13	31843387	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5432057	31843387	83326491	483	2070											
PDS5B	23047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	33316808	33316808	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaggaacttctaccttaaGattgctaacaacaatattgc	5	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:33316808G>T	ENST00000315596.10	+	23	2741	c.2555G>T	c.(2554-2556)aGa>aTa	p.R852I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	852					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTACCTTAAGATTGCTAACA	0.338																																					p.R852I		.											.	PDS5B-94	0			c.G2555T						.						138	130	133					13																	33316808		1861	4114	5975	SO:0001583	missense	23047	exon23			CCTTAAGATTGCT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2555G>T	13.37:g.33316808G>T	ENSP00000313851:p.Arg852Ile	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	73	32	NM_015032	0	0	2	3	1	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116185	0.94339	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81404	-0.0948	9	0.46703	T	0.11	-19.6451	20.1294	0.97995	0.0:0.0:1.0:0.0	.	852	Q9NTI5	PDS5B_HUMAN	I	852	.	ENSP00000313851:R852I	R	+	2	0	PDS5B	32214808	1.000000	0.71417	0.993000	0.49108	0.842000	0.47809	9.756000	0.98918	2.758000	0.94735	0.591000	0.81541	AGA	.		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33316808	G	T	33316808	3	4	9	1	0	0	0	0	1	0	0	0	11731	942	33	3	2641	3	PDS5B	13	33316808	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1473421	33316808	81853070	484	2071											
ENOX1	55068	ucsc.edu	37	chr13	43986176	43986176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctatcgctatactcccCaaaccatcggctgctgtggg	10	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:43986176C>A	ENST00000261488.6	-	5	661	c.84G>T	c.(82-84)ttG>ttT	p.L28F	ENOX1_ENST00000412891.1_Missense_Mutation_p.L28F	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	28					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)		CTATACTCCCCAAACCATCGG	0.478																																					p.L28F		.											.	ENOX1-92	0			c.G84T						.						112	101	105					13																	43986176		2203	4300	6503	SO:0001583	missense	55068	exon5			ACTCCCCAAACCA	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.84G>T	13.37:g.43986176C>A	ENSP00000261488:p.Leu28Phe	Somatic	115	2		WXS	Illumina GAIIx	Phase_I	88	9	NM_017993	0	0	0	0	0	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679285	0.47886	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47528	0.84;0.84	5.62	5.62	0.85841	.	0.277781	0.32357	N	0.006204	T	0.32285	0.0824	N	0.14661	0.345	0.80722	D	1	D	0.54964	0.969	B	0.42959	0.403	T	0.05716	-1.0868	10	0.28530	T	0.3	-1.7691	13.915	0.63893	0.152:0.848:0.0:0.0	.	28	Q8TC92	ENOX1_HUMAN	F	28	ENSP00000261488:L28F;ENSP00000415054:L28F	ENSP00000261488:L28F	L	-	3	2	ENOX1	42884176	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.290000	0.33319	2.809000	0.96659	0.467000	0.42956	TTG	.		0.478	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		A	43986176	C	A	43986176	3	1	9	1	0	0	0	0	1	0	0	0	5142	593	21	3	1899	3	ENOX1	13	43986176	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10669368	43986176	71183702	485	2072											
UTP14C	9724	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	52604696	52604696	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagaggagctggaagatgaaGaggagagagaccaaaggcag	17	4	0	6			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:52604696G>T	ENST00000521776.2	+	2	2489	c.1756G>T	c.(1756-1758)Gag>Tag	p.E586*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	586					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)		GGAAGATGAAGAGGAGAGAGA	0.473																																					p.E586X		.											.	UTP14C-138	0			c.G1756T						.						94	96	95					13																	52604696		2203	4300	6503	SO:0001587	stop_gained	9724	exon2			GATGAAGAGGAGA	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.1756G>T	13.37:g.52604696G>T	ENSP00000428619:p.Glu586*	Somatic	244	3		WXS	Illumina GAIIx	Phase_I	224	88	NM_021645	0	0	3	4	1	Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	41	8.983616	0.99025	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.77	-0.343	0.12632	.	0.591633	0.18774	N	0.131533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7248	4.0447	0.09768	0.2598:0.1981:0.5421:0.0	.	.	.	.	X	586	.	.	E	+	1	0	UTP14C	51502697	0.998000	0.40836	0.102000	0.21198	0.890000	0.51754	5.559000	0.67326	-0.268000	0.09312	0.455000	0.32223	GAG	.		0.473	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		T	52604696	G	T	52604696	4	4	9	1	0	0	0	0	0	1	0	0	17145	943	33	3	1758	3	UTP14C	13	52604696	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8618520	52604696	62565182	486	2073											
THSD1	55901	bcgsc.ca	37	chr13	52951587	52951587	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctaagtgtacttgtggtttCatcctcttcatttgacccaa	7	10	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:52951587C>A	ENST00000258613.4	-	5	2696	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	THSD1_ENST00000544466.1_Nonsense_Mutation_p.E461*|THSD1_ENST00000349258.4_Nonsense_Mutation_p.E787*	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	840					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTGTGGTTTCATCCTCTTCA	0.493																																					p.E840X		.											.	THSD1-94	0			c.G2518T						.						19	19	19					13																	52951587		2203	4296	6499	SO:0001587	stop_gained	55901	exon5			TGGTTTCATCCTC	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2518G>T	13.37:g.52951587C>A	ENSP00000258613:p.Glu840*	Somatic	406	4		WXS	Illumina GAIIx	Phase_I	317	32	NM_018676	0	0	4	4	0	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Nonsense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	42	9.248773	0.99113	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	.	.	.	5.67	5.67	0.87782	.	0.058783	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9585	19.1179	0.93350	0.0:1.0:0.0:0.0	.	.	.	.	X	787;461;840	.	ENSP00000258613:E840X	E	-	1	0	THSD1	51849588	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.246000	0.72405	2.834000	0.97654	0.508000	0.49915	GAA	.		0.493	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			A	52951587	C	A	52951587	4	1	9	1	0	0	0	0	0	1	0	0	15924	835	29	3	44	3	THSD1	13	52951587	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	346891	52951587	62218291	487	2074											
PCDH9	5101	ucsc.edu;bcgsc.ca	37	chr13	67800034	67800034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgcttgctcctctgagCtgctttgaaccttgatgcat	8	12	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:67800034C>A	ENST00000377865.2	-	1	2673	c.2539G>T	c.(2539-2541)Gct>Tct	p.A847S	PCDH9_ENST00000328454.5_Missense_Mutation_p.A847S|PCDH9_ENST00000377861.3_Missense_Mutation_p.A847S|PCDH9_ENST00000456367.1_Missense_Mutation_p.A847S|PCDH9_ENST00000544246.1_Missense_Mutation_p.A847S			Q9HC56	PCDH9_HUMAN	protocadherin 9	847					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCCTCTGAGCTGCTTTGAAC	0.488																																					p.A847S		.											.	PCDH9-96	0			c.G2539T						.						131	122	125					13																	67800034		2203	4300	6503	SO:0001583	missense	5101	exon2			TCTGAGCTGCTTT	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2539G>T	13.37:g.67800034C>A	ENSP00000367096:p.Ala847Ser	Somatic	178	3		WXS	Illumina GAIIx	Phase_I	138	28	NM_203487	0	0	0	0	0	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736781	0.30774	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.31926	0.97	0.80722	D	1	P;P;P;P	0.42456	0.78;0.78;0.739;0.605	B;B;B;B	0.42138	0.377;0.377;0.259;0.264	T	0.00970	-1.1496	10	0.28530	T	0.3	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	847;847;847;847	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	847	ENSP00000442186:A847S;ENSP00000367096:A847S;ENSP00000401699:A847S;ENSP00000332060:A847S;ENSP00000367092:A847S	ENSP00000332060:A847S	A	-	1	0	PCDH9	66698035	1.000000	0.71417	0.830000	0.32933	0.909000	0.53808	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GCT	.		0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67800034	C	A	67800034	3	1	9	1	0	0	0	0	1	0	0	0	11557	797	28	3	1190	3	PCDH9	13	67800034	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	14848447	67800034	47369844	488	2075											
GPR183	1880	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	99947317	99947317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaatacaatccatttcaCtttccatttgaagacttgga	4	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:99947317C>G	ENST00000376414.4	-	2	1166	c.1083G>C	c.(1081-1083)aaG>aaC	p.K361N	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	361					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						ATCCATTTCACTTTCCATTTG	0.363																																					p.K361N		.											.	GPR183-522	0			c.G1083C						.						83	85	84					13																	99947317		2202	4300	6502	SO:0001583	missense	1880	exon2			ATTTCACTTTCCA	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.1083G>C	13.37:g.99947317C>G	ENSP00000365596:p.Lys361Asn	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	102	35	NM_004951	0	0	5	5	0	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349705	0.24426	.	.	ENSG00000169508	ENST00000376414	T	0.56611	0.45	5.8	0.0641	0.14351	.	0.617850	0.16867	N	0.196270	T	0.24928	0.0605	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16305	-1.0407	9	.	.	.	.	5.9438	0.19207	0.0:0.5436:0.1208:0.3356	.	361	P32249	GP183_HUMAN	N	361	ENSP00000365596:K361N	.	K	-	3	2	GPR183	98745318	0.983000	0.35010	0.231000	0.23993	0.909000	0.53808	1.128000	0.31369	-0.337000	0.08426	0.650000	0.86243	AAG	.		0.363	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		G	99947317	C	G	99947317	3	3	9	1	0	0	0	0	1	0	0	0	6704	564	20	3	6	3	GPR183	13	99947317	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	32147283	99947317	15222561	489	2076											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_005537	0	0	0	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	9	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11420999	111368316	3801562	490	2077											
CUL4A	8451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	113909353	113909353	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcccaaaggaaaggaagtgGaagatggagacaagttcatt	13	5	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr13:113909353G>T	ENST00000375440.4	+	18	2029	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	CUL4A_ENST00000326335.4_Nonsense_Mutation_p.E549*|CUL4A_ENST00000375441.3_Nonsense_Mutation_p.E549*|CUL4A_ENST00000451881.1_Nonsense_Mutation_p.E549*	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	649					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAAGGAAGTGGAAGATGGAGA	0.408																																					p.E649X		.											.	CUL4A-651	0			c.G1945T						.						103	105	104					13																	113909353		2203	4300	6503	SO:0001587	stop_gained	8451	exon18			GAAGTGGAAGATG	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1945G>T	13.37:g.113909353G>T	ENSP00000364589:p.Glu649*	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	270	94	NM_001008895	0	0	13	14	1	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Nonsense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	39	7.535203	0.98342	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	.	.	.	4.99	4.14	0.48551	.	0.103439	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-36.96	13.5536	0.61747	0.0762:0.0:0.9238:0.0	.	.	.	.	X	549;549;549;649	.	ENSP00000322132:E549X	E	+	1	0	CUL4A	112957354	1.000000	0.71417	0.077000	0.20336	0.117000	0.20001	9.234000	0.95347	1.208000	0.43306	0.462000	0.41574	GAA	.		0.408	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		T	113909353	G	T	113909353	4	4	9	1	0	0	0	0	0	1	0	0	4066	1175	41	3	2015	3	CUL4A	13	113909353	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2541037	113909353	1260525	491	2078											
CDH24	64403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	23521682	23521682	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccctggagtcctcacCgagctctgtagccagcacag	13	14	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:23521682C>A	ENST00000267383.5	-	7	1455	c.1363G>T	c.(1363-1365)Ggc>Tgc	p.G455C	CDH24_ENST00000487137.2_Splice_Site_p.D455Y|CDH24_ENST00000554034.1_Splice_Site_p.D455Y|CDH24_ENST00000485922.1_5'Flank|CDH24_ENST00000397359.3_Splice_Site_p.G455C			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	455	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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GAGTCCTCACCGAGCTCTGTA	0.652																																					p.G455C		.											.	CDH24-90	0			c.G1363T						.						38	37	38					14																	23521682		2203	4300	6503	SO:0001630	splice_region_variant	64403	exon8			CCTCACCGAGCTC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1363+1G>T	14.37:g.23521682C>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	120	12	NM_022478	0	0	0	3	3	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000139880|ENSG00000139880	ENST00000487137;ENST00000554034|ENST00000397359;ENST00000267383	T;T|T;T	0.62105|0.28895	0.05;0.05|1.59;1.59	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Cadherin (2);Cadherin-like (1);	.|0.930806	.|0.08980	.|N	.|0.865922	T|T	0.45377|0.45377	0.1339|0.1339	N|N	0.25992|0.25992	0.78|0.78	0.58432|0.58432	D|D	0.999993|0.999993	D|P;D	0.89917|0.89917	1.0|0.916;1.0	D|P;D	0.81914|0.73380	0.995|0.856;0.98	T|T	0.18209|0.18209	-1.0344|-1.0344	8|9	.|.	.|.	.|.	.|.	16.8388|16.8388	0.85963|0.85963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	455|455;455	Q86UP0-2|Q96LQ7;Q86UP0	.|.;CAD24_HUMAN	Y|C	455|455	ENSP00000434821:D455Y;ENSP00000452493:D455Y|ENSP00000380517:G455C;ENSP00000267383:G455C	.|.	D|G	-|-	1|1	0|0	CDH24|CDH24	22591522|22591522	.|.	.|.	0.976000|0.976000	0.42696|0.42696	0.873000|0.873000	0.50193|0.50193	.|.	.|.	2.501000|2.501000	0.84356|0.84356	0.561000|0.561000	0.74099|0.74099	GAC|GGC	.		0.652	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	Missense_Mutation	A	23521682	C	A	23521682	5	1	9	1	0	0	0	0	0	0	1	0	3116	666	23	2	1120	2	CDH24	14	23521682	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		23521682	83827858	492	2079											
PABPN1	8106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23791464	23791464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaggagctacagaacgaGgtagagaagcagatgaatat	12	5	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:23791464G>A	ENST00000216727.4	+	2	607	c.426G>A	c.(424-426)gaG>gaA	p.E142E	PABPN1_ENST00000556821.1_Silent_p.E14E|AL049829.1_ENST00000594872.1_Silent_p.T7T|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.E169E|PABPN1_ENST00000557702.1_Silent_p.E14E|PABPN1_ENST00000397276.2_Silent_p.E142E|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.E169E	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	142	Interacts with SKIP.|Stimulates PAPOLA. {ECO:0000250}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACAGAACGAGGTAGAGAAGC	0.537																																					p.E169E		.											.	.	0			c.G507A						.						65	55	58					14																	23791464		2202	4300	6502	SO:0001819	synonymous_variant	100529063	exon4			GAACGAGGTAGAG	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.426G>A	14.37:g.23791464G>A		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	240	51	NM_001199864	0	0	91	135	44	D3DS49|O43484	Silent	SNP	ENST00000216727.4	37	CCDS9592.1																																																																																			.		0.537	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		A	23791464	G	A	23791464	2	1	9	1	0	0	0	0	0	0	0	1	11407	991	35	3		3	PABPN1	14	23791464	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	269782	23791464	83558076	493	2080											
TGM1	7051	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	24731331	24731331	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagccaggtcttcgagtGccagagctggaccctcgacc	14	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:24731331G>T	ENST00000206765.6	-	2	351	c.228C>A	c.(226-228)ggC>ggA	p.G76G	TGM1_ENST00000544573.1_Splice_Site	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	76	Membrane anchorage region.				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)	GTCTTCGAGTGCCAGAGCTGG	0.657																																					p.G76G		.											.	TGM1-91	0			c.C228A						.						47	55	52					14																	24731331		2203	4300	6503	SO:0001819	synonymous_variant	7051	exon2			TCGAGTGCCAGAG	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.228C>A	14.37:g.24731331G>T		Somatic	120	1		WXS	Illumina GAIIx	Phase_I	153	42	NM_000359	0	0	0	0	0	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																			.		0.657	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		T	24731331	G	T	24731331	2	4	9	1	0	0	0	0	0	0	0	1	15876	1306	46	3		3	TGM1	14	24731331	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	939867	24731331	82618209	494	2081											
KHNYN	23351	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	24901482	24901482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagggcagctcagtccCgaggagcctccctcctccag	11	17	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:24901482C>A	ENST00000251343.5	+	3	1154	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.R339R|KHNYN_ENST00000556842.1_Silent_p.R339R|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	339							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGCTCAGTCCCGAGGAGCCTC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R339R		.											.	KHNYN-93	0			c.C1015A						.						55	60	58					14																	24901482		2203	4299	6502	SO:0001819	synonymous_variant	23351	exon3			CAGTCCCGAGGAG	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.1015C>A	14.37:g.24901482C>A		Somatic	131	0	774	WXS	Illumina GAIIx	Phase_I	162	11	NM_015299	0	0	15	15	0	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	CCDS32058.1																																																																																			.		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			A	24901482	C	A	24901482	2	1	9	1	0	0	0	0	0	0	0	1	8177	644	23	2		2	KHNYN	14	24901482	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	170151	24901482	82448058	495	2082											
AKAP6	9472	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	33291762	33291762	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatttatttggattgggCatctttaaaaatggcagtga	12	3	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:33291762C>A	ENST00000280979.4	+	13	4913	c.4743C>A	c.(4741-4743)ggC>ggA	p.G1581G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1581	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTGGATTGGGCATCTTTAAAA	0.423																																					p.G1581G	Melanoma(49;821 1200 7288 13647 42351)	.											.	AKAP6-733	0			c.C4743A						.						87	90	89					14																	33291762		2203	4299	6502	SO:0001819	synonymous_variant	9472	exon13			ATTGGGCATCTTT	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4743C>A	14.37:g.33291762C>A		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	103	28	NM_004274	0	0	0	0	0	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																			.		0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33291762	C	A	33291762	2	1	9	1	0	0	0	0	0	0	0	1	455	697	25	3		3	AKAP6	14	33291762	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8390280	33291762	74057778	496	2083											
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	36191028	36191028	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagaaaatgacttgtcaactGaaactttctgaaattcatgt	6	6	3	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:36191028G>T	ENST00000389698.3	-	16	2522	c.2132C>A	c.(2131-2133)tCa>tAa	p.S711*	RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.S711*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.S711*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.S711*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	711					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						CTTGTCAACTGAAACTTTCTG	0.418																																					p.S711X		.											.	RALGAPA1-138	0			c.C2132A						.						82	79	80					14																	36191028		2203	4300	6503	SO:0001587	stop_gained	253959	exon16			TCAACTGAAACTT	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.2132C>A	14.37:g.36191028G>T	ENSP00000374348:p.Ser711*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	94	18	NM_194301	0	0	1	1	0	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	44	10.531580	0.99422	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.65	5.65	0.86999	.	0.193916	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7698	20.1057	0.97893	0.0:0.0:1.0:0.0	.	.	.	.	X	711	.	ENSP00000258840:S711X	S	-	2	0	RALGAPA1	35260779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	2.827000	0.97445	0.650000	0.86243	TCA	.		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36191028	G	T	36191028	4	4	9	1	0	0	0	0	0	1	0	0	13058	1294	45	3	4231	3	RALGAPA1	14	36191028	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2899266	36191028	71158512	497	2084											
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_018139	0	0	0	4	4	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	9	1	0	0	0	0	0	0	0	1	1741	639	23	2		2	C14orf104	14	50100683	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	13909655	50100683	57248857	498	2085											
SOS2	6655	bcgsc.ca	37	chr14	50616832	50616832	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtttgctgatatgccattCaattggtggaggtggacttt	13	5	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:50616832C>A	ENST00000216373.5	-	14	2552	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.E727*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	760					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATGCCATTCAATTGGTGGA	0.418																																					p.E760X		.											.	SOS2-849	0			c.G2278T						.						273	230	245					14																	50616832		2203	4300	6503	SO:0001587	stop_gained	6655	exon14			GCCATTCAATTGG	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2278G>T	14.37:g.50616832C>A	ENSP00000216373:p.Glu760*	Somatic	176	4		WXS	Illumina GAIIx	Phase_I	223	57	NM_006939	0	0	12	12	0	B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	39	7.321567	0.98210	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	5.52	4.63	0.57726	.	0.091766	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.2826	0.66224	0.0:0.9285:0.0:0.0715	.	.	.	.	X	760;727	.	ENSP00000216373:E760X	E	-	1	0	SOS2	49686582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.348000	0.45733	0.655000	0.94253	GAA	.		0.418	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50616832	C	A	50616832	4	1	9	1	0	0	0	0	0	1	0	0	14982	835	29	3	1760	3	SOS2	14	50616832	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	516149	50616832	56732708	499	2086											
NID2	22795	broad.mit.edu	37	chr14	52508850	52508850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagccgttctcagagcCaggtttttctaaagcaaaga	10	9	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:52508850C>A	ENST00000216286.5	-	7	1797	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	NID2_ENST00000541773.1_Missense_Mutation_p.G547C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	600	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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)					TTCTCAGAGCCAGGTTTTTCT	0.587																																					p.G600C		.											.	NID2-158	0			c.G1798T						.						82	90	87					14																	52508850		2203	4300	6503	SO:0001583	missense	22795	exon7			CAGAGCCAGGTTT	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.1798G>T	14.37:g.52508850C>A	ENSP00000216286:p.Gly600Cys	Somatic	45	1		WXS	Illumina GAIIx	Phase_I	74	14	NM_007361	0	0	4	4	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256643	0.80246	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.25749	1.78;1.78	5.93	5.93	0.95920	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.091506	0.85682	D	0.000000	T	0.59183	0.2175	M	0.84846	2.72	0.44079	D	0.996833	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.996;0.999;0.999	T	0.62709	-0.6797	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	194;547;602;600	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	C	600;194;547;602	ENSP00000216286:G600C;ENSP00000443730:G547C	ENSP00000216286:G600C	G	-	1	0	NID2	51578600	0.994000	0.37717	0.997000	0.53966	0.897000	0.52465	2.779000	0.47734	2.826000	0.97356	0.655000	0.94253	GGC	.		0.587	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52508850	C	A	52508850	3	1	9	1	0	0	0	0	1	0	0	0	10454	594	21	3	2393	3	NID2	14	52508850	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1892018	52508850	54840690	500	2087											
ERO1L	30001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	53110333	53110333	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaagttttctaattctttCacacttgtagaaattctgta	5	7	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:53110333C>A	ENST00000395686.3	-	16	1585	c.1362G>T	c.(1360-1362)gtG>gtT	p.V454V	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	454					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CTAATTCTTTCACACTTGTAG	0.299																																					p.V454V		.											.	ERO1L-90	0			c.G1362T						.						41	37	38					14																	53110333		2185	4285	6470	SO:0001819	synonymous_variant	30001	exon16			TTCTTTCACACTT	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1362G>T	14.37:g.53110333C>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	43	10	NM_014584	0	0	66	77	11	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	ENST00000395686.3	37	CCDS9709.1																																																																																			.		0.299	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		A	53110333	C	A	53110333	2	1	9	1	0	0	0	0	0	0	0	1	5255	813	29	3		3	ERO1L	14	53110333	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	601483	53110333	54239207	501	2088											
FERMT2	10979	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	53386013	53386013	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctaaggtccaatgtgtcttCagaagccaagttctcttctt	7	10	5	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:53386013C>A	ENST00000395631.2	-	3	435	c.219G>T	c.(217-219)ctG>ctT	p.L73L	FERMT2_ENST00000341590.3_Silent_p.L73L|FERMT2_ENST00000343279.4_Silent_p.L73L|FERMT2_ENST00000553373.1_Silent_p.L73L|FERMT2_ENST00000399304.3_Silent_p.L73L			Q96AC1	FERM2_HUMAN	fermitin family member 2	73	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AATGTGTCTTCAGAAGCCAAG	0.403																																					p.L73L		.											.	FERMT2-68	0			c.G219T						.						140	128	132					14																	53386013		2203	4300	6503	SO:0001819	synonymous_variant	10979	exon3			TGTCTTCAGAAGC	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.219G>T	14.37:g.53386013C>A		Somatic	138	1		WXS	Illumina GAIIx	Phase_I	158	54	NM_001135000	0	0	0	0	0	B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	CCDS9713.1																																																																																			.		0.403	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		A	53386013	C	A	53386013	2	1	9	1	0	0	0	0	0	0	0	1	5840	813	29	3		3	FERMT2	14	53386013	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	275680	53386013	53963527	502	2089											
PELI2	57161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	56755230	56755230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccagaacacggacgaaGcccagatcacacagagcacc	10	15	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:56755230G>T	ENST00000267460.4	+	4	671	c.385G>T	c.(385-387)Gcc>Tcc	p.A129S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	129	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACGGACGAAGCCCAGATCAC	0.512																																					p.A129S		.											.	PELI2-91	0			c.G385T						.						106	87	93					14																	56755230		2203	4300	6503	SO:0001583	missense	57161	exon4			GACGAAGCCCAGA	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.385G>T	14.37:g.56755230G>T	ENSP00000267460:p.Ala129Ser	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	175	29	NM_021255	0	0	0	0	0	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541893	0.13250	.	.	ENSG00000139946	ENST00000267460	T	0.42900	0.96	5.73	2.56	0.30785	.	0.264230	0.41605	D	0.000853	T	0.13798	0.0334	N	0.02539	-0.55	0.31994	N	0.604193	B	0.02656	0.0	B	0.10450	0.005	T	0.06041	-1.0849	10	0.24483	T	0.36	-29.7163	2.176	0.03862	0.3486:0.0:0.4135:0.2379	.	129	Q9HAT8	PELI2_HUMAN	S	129	ENSP00000267460:A129S	ENSP00000267460:A129S	A	+	1	0	PELI2	55824983	0.108000	0.22018	0.999000	0.59377	0.762000	0.43233	1.724000	0.38064	1.428000	0.47296	-0.136000	0.14681	GCC	.		0.512	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			T	56755230	G	T	56755230	3	4	9	1	0	0	0	0	1	0	0	0	11761	971	34	3	399	3	PELI2	14	56755230	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3369217	56755230	50594310	503	2090											
C14orf101	54916	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	57103241	57103241	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaggatgaaaacaccgttCttcatctttaacctggcaga	7	12	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:57103241C>A	ENST00000261556.6	+	15	1916	c.1794C>A	c.(1792-1794)ttC>ttA	p.F598L	RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.F132L	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	598						integral component of membrane (GO:0016021)											AAACACCGTTCTTCATCTTTA	0.418																																					p.F598L		.											.	.	0			c.C1794A						.						100	91	94					14																	57103241		2203	4300	6503	SO:0001583	missense	0	exon15			ACCGTTCTTCATC	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.1794C>A	14.37:g.57103241C>A	ENSP00000261556:p.Phe598Leu	Somatic	186	2		WXS	Illumina GAIIx	Phase_I	217	22	NM_017799	0	0	10	10	0	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.367599|2.367599	0.42003|0.42003	.|.	.|.	ENSG00000070269|ENSG00000070269	ENST00000261556;ENST00000536419|ENST00000555046	T;T|.	0.45668|.	1.6;0.89|.	4.91|4.91	4.01|4.01	0.46588|0.46588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.63428|0.63428	1.95|1.95	0.42356|0.42356	D|D	0.992391|0.992391	D|.	0.58620|.	0.983|.	P|.	0.56278|.	0.795|.	T|T	0.69266|0.69266	-0.5190|-0.5190	10|5	0.49607|.	T|.	0.09|.	-5.7869|-5.7869	13.6919|13.6919	0.62550|0.62550	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	598|.	Q9NX78|.	CN101_HUMAN|.	L|Y	598;132|3	ENSP00000261556:F598L;ENSP00000438742:F132L|.	ENSP00000261556:F598L|.	F|S	+|+	3|2	2|0	C14orf101|C14orf101	56172994|56172994	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	3.139000|3.139000	0.50577|0.50577	1.274000|1.274000	0.44362|0.44362	0.563000|0.563000	0.77884|0.77884	TTC|TCT	.		0.418	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		A	57103241	C	A	57103241	3	1	9	1	0	0	0	0	1	0	0	0	1739	912	32	3	1852	3	C14orf101	14	57103241	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	348011	57103241	50246299	504	2091											
RTN1	6252	ucsc.edu;bcgsc.ca	37	chr14	60212795	60212795	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagtccaagtctttatcttCcagctcggggtgatgttgtt	10	8	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:60212795C>A	ENST00000267484.5	-	2	981	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	216					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTATCTTCCAGCTCGGGG	0.458																																					p.E216X		.											.	RTN1-516	0			c.G646T						.						247	243	245					14																	60212795		2203	4300	6503	SO:0001587	stop_gained	6252	exon2			TATCTTCCAGCTC	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.646G>T	14.37:g.60212795C>A	ENSP00000267484:p.Glu216*	Somatic	129	3		WXS	Illumina GAIIx	Phase_I	155	59	NM_021136	0	0	0	0	0	Q16800|Q16801|Q5BKZ4|Q9BQ59	Nonsense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667468	0.88348	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	.	.	.	5.7	4.8	0.61643	.	1.314180	0.05234	N	0.510873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.6415	0.68729	0.0:0.8417:0.1583:0.0	.	.	.	.	X	216;142	.	ENSP00000267484:E216X	E	-	1	0	RTN1	59282548	0.008000	0.16893	0.010000	0.14722	0.039000	0.13416	1.227000	0.32576	1.378000	0.46305	0.557000	0.71058	GAA	.		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			A	60212795	C	A	60212795	4	1	9	1	0	0	0	0	0	1	0	0	13770	864	30	3	1781	3	RTN1	14	60212795	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3109554	60212795	47136745	505	2092											
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64580141	64580141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggtggagaaaactaGgccggagcccacagaagtcc	14	12	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:64580141G>T	ENST00000344113.4	+	66	12904	c.12692G>T	c.(12691-12693)aGg>aTg	p.R4231M	SYNE2_ENST00000555002.1_Missense_Mutation_p.R865M|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4231M|SYNE2_ENST00000357395.3_Missense_Mutation_p.R616M|SYNE2_ENST00000394768.2_Missense_Mutation_p.R616M|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4246M|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4231					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)		GAGAAAACTAGGCCGGAGCCC	0.567																																					p.R4231M		.											.	SYNE2-164	0			c.G12692T						.						55	54	55					14																	64580141		2203	4300	6503	SO:0001583	missense	23224	exon66			AAACTAGGCCGGA	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.12692G>T	14.37:g.64580141G>T	ENSP00000341781:p.Arg4231Met	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	83	24	NM_182914	0	0	1	1	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975543	0.34848	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.64618	0.45;3.73;0.43;-0.11;3.8;3.73	5.97	5.08	0.68730	.	0.562040	0.18317	N	0.144906	T	0.66470	0.2792	L	0.34521	1.04	0.53688	D	0.999972	D;D;D	0.67145	0.98;0.993;0.996	P;P;P	0.58970	0.849;0.635;0.8	T	0.68918	-0.5282	10	0.72032	D	0.01	.	13.2854	0.60241	0.0729:0.0:0.9271:0.0	.	616;4231;4231	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	M	4231;616;4231;4246;4246;865;616;123	ENSP00000350719:R4231M;ENSP00000349969:R616M;ENSP00000341781:R4231M;ENSP00000452570:R4246M;ENSP00000450831:R865M;ENSP00000378249:R616M	ENSP00000261678:R4246M	R	+	2	0	SYNE2	63649894	0.990000	0.36364	0.008000	0.14137	0.576000	0.36127	3.669000	0.54561	1.535000	0.49220	0.655000	0.94253	AGG	.		0.567	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64580141	G	T	64580141	3	4	9	1	0	0	0	0	1	0	0	0	15493	1000	35	3	12950	3	SYNE2	14	64580141	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4367346	64580141	42769399	506	2093											
DLST	1743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	75359678	75359678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcgccctcacagcctccttCtggcaaacctggtaggcttc	8	17	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:75359678C>A	ENST00000334220.4	+	8	645	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	DLST_ENST00000334212.6_Missense_Mutation_p.S109Y|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	195					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CAGCCTCCTTCTGGCAAACCT	0.547																																					p.S195Y		.											.	DLST-227	0			c.C584A						.						58	49	52					14																	75359678		2203	4300	6503	SO:0001583	missense	1743	exon8			CTCCTTCTGGCAA		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.584C>A	14.37:g.75359678C>A	ENSP00000335304:p.Ser195Tyr	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	103	15	NM_001933	0	0	0	0	0	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254749	0.22965	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.50277	0.75;0.75;0.75	5.11	-0.265	0.12946	.	0.606715	0.18877	N	0.128699	T	0.22898	0.0553	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.30709	0.291;0.102;0.102;0.102;0.291	B;B;B;B;B	0.24541	0.054;0.054;0.054;0.054;0.054	T	0.12656	-1.0539	10	0.87932	D	0	-62.2813	4.2063	0.10490	0.2671:0.3831:0.0:0.3498	.	109;195;195;107;111	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	Y	195;109;178	ENSP00000335304:S195Y;ENSP00000335465:S109Y;ENSP00000451957:S178Y	ENSP00000238671:S178Y	S	+	2	0	DLST	74429431	0.025000	0.19082	0.049000	0.19019	0.470000	0.32858	1.325000	0.33724	0.110000	0.17919	0.655000	0.94253	TCT	.		0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			A	75359678	C	A	75359678	3	1	9	1	0	0	0	0	1	0	0	0	4583	913	32	3	614	3	DLST	14	75359678	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10779537	75359678	31989862	507	2094											
BEGAIN	57596	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	101011394	101011394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcagtgccatgtagttGctctgaatcctggtgcagga	12	10	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:101011394G>T	ENST00000355173.2	-	4	257	c.186C>A	c.(184-186)agC>agA	p.S62R	BEGAIN_ENST00000443071.2_Missense_Mutation_p.S62R|BEGAIN_ENST00000554747.1_5'Flank|BEGAIN_ENST00000556751.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	62						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCATGTAGTTGCTCTGAATCC	0.647																																					p.S62R	NSCLC(159;1889 2010 9965 27479 40101)	.											.	BEGAIN-68	0			c.C186A						.						198	133	155					14																	101011394		2203	4300	6503	SO:0001583	missense	57596	exon4			GTAGTTGCTCTGA	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.186C>A	14.37:g.101011394G>T	ENSP00000347301:p.Ser62Arg	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	72	7	NM_020836	0	0	0	0	0	Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231824	0.22626	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.77098	0.76;0.76;-1.07;-1.07;-1.07;-1.07	3.16	2.27	0.28462	.	0.211953	0.48767	D	0.000167	T	0.64114	0.2569	L	0.38838	1.175	0.44295	D	0.997162	P	0.36535	0.557	B	0.33196	0.159	T	0.63457	-0.6633	10	0.54805	T	0.06	.	8.5833	0.33642	0.1204:0.0:0.8796:0.0	.	62	Q9BUH8	BEGIN_HUMAN	R	62;62;74;62;62;81	ENSP00000347301:S62R;ENSP00000411124:S62R;ENSP00000451397:S74R;ENSP00000452157:S62R;ENSP00000450722:S62R;ENSP00000451125:S81R	ENSP00000347301:S62R	S	-	3	2	BEGAIN	100081147	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	2.933000	0.48948	0.907000	0.36646	-0.266000	0.10368	AGC	.		0.647	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		T	101011394	G	T	101011394	3	4	9	1	0	0	0	0	1	0	0	0	1398	1310	46	3	1611	3	BEGAIN	14	101011394	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	25651716	101011394	6338146	508	2095											
HSP90AA1	3320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	102551693	102551693	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcacaatctcctttattCttcgttcctccaagtactca	2	14	5	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:102551693C>A	ENST00000216281.8	-	4	810	c.605G>T	c.(604-606)aGa>aTa	p.R202I	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.R324I|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R23I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	202					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)	CTCCTTTATTCTTCGTTCCTC	0.363																																					p.R324I		.											.	HSP90AA1-949	0			c.G971T						.						85	69	75					14																	102551693		2203	4300	6503	SO:0001583	missense	3320	exon5			TTTATTCTTCGTT	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.605G>T	14.37:g.102551693C>A	ENSP00000216281:p.Arg202Ile	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	192	58	NM_001017963	0	0	137	194	57	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.161744	0.78226	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000001	T	0.53481	0.1799	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.993	T	0.77104	-0.2711	10	0.87932	D	0	-17.6037	17.1172	0.86692	0.0:1.0:0.0:0.0	.	23;324;202	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	I	202;324;23;133	ENSP00000216281:R202I;ENSP00000335153:R324I;ENSP00000396189:R23I;ENSP00000450712:R133I	ENSP00000216281:R202I	R	-	2	0	HSP90AA1	101621446	0.928000	0.31464	0.374000	0.26016	0.997000	0.91878	7.592000	0.82676	2.121000	0.65114	0.650000	0.86243	AGA	.		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		A	102551693	C	A	102551693	3	1	9	1	0	0	0	0	1	0	0	0	7428	913	32	3	1625	3	HSP90AA1	14	102551693	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1540299	102551693	4797847	509	2096											
SIVA1	10572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105222044	105222044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaggctgtgccgtcgttCacctgccagagtccccaaag	11	13	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:105222044C>A	ENST00000329967.6	+	2	298	c.196C>A	c.(196-198)Cac>Aac	p.H66N	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	66					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGCCGTCGTTCACCTGCCAGA	0.627																																					p.H66N		.											.	SIVA1-514	0			c.C196A						.						69	68	68					14																	105222044		2203	4300	6503	SO:0001583	missense	10572	exon2			GTCGTTCACCTGC	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.196C>A	14.37:g.105222044C>A	ENSP00000329213:p.His66Asn	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	117	33	NM_006427	0	0	127	185	58	Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.579|4.579	0.107505|0.107505	0.08780|0.08780	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000556195|ENST00000329967;ENST00000553810	.|.	.|.	.|.	5.03|5.03	2.15|2.15	0.27550|0.27550	.|.	.|0.894418	.|0.09590	.|N	.|0.781624	T|T	0.33933|0.33933	0.0880|0.0880	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B	.|0.34241	.|0.126;0.126;0.444	.|B;B;B	.|0.28916	.|0.067;0.096;0.085	T|T	0.09885|0.09885	-1.0654|-1.0654	5|9	.|0.20046	.|T	.|0.44	-13.0958|-13.0958	13.4597|13.4597	0.61221|0.61221	0.0:0.5842:0.4158:0.0|0.0:0.5842:0.4158:0.0	.|.	.|66;66;66	.|B4DTY2;O15304;G3V3U1	.|.;SIVA_HUMAN;.	L|N	83|66	.|.	.|ENSP00000329213:H66N	F|H	+|+	3|1	2|0	SIVA1|SIVA1	104293089|104293089	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.921000|0.921000	0.55340|0.55340	-0.039000|-0.039000	0.12124|0.12124	0.143000|0.143000	0.18926|0.18926	-0.300000|-0.300000	0.09419|0.09419	TTC|CAC	.		0.627	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		A	105222044	C	A	105222044	3	1	9	1	0	0	0	0	1	0	0	0	14390	826	29	3	202	3	SIVA1	14	105222044	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2670351	105222044	2127496	510	2097											
BRF1	2972	broad.mit.edu;ucsc.edu	37	chr14	105688210	105688210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctcctcgtcctctgtgtCctcctcgccacacaagctgg	8	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr14:105688210C>A	ENST00000546474.1	-	11	16049	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.D249Y|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D337Y|BRF1_ENST00000549044.1_5'Flank|BRF1_ENST00000327359.3_Missense_Mutation_p.D249Y|BRF1_ENST00000392557.4_Missense_Mutation_p.D160Y|BRF1_ENST00000446501.2_Missense_Mutation_p.D126Y	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	364					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCCTCTGTGTCCTCCTCGCCA	0.627																																					p.D364Y		.											.	BRF1-155	0			c.G1090T						.						26	16	19					14																	105688210		2200	4291	6491	SO:0001583	missense	2972	exon11			CTGTGTCCTCCTC	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1090G>T	14.37:g.105688210C>A	ENSP00000448323:p.Asp364Tyr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	83	4	NM_001519	0	0	14	17	3	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971772	0.53614	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562;ENST00000549655	.	.	.	4.64	4.64	0.57946	.	0.289409	0.38897	N	0.001537	T	0.72053	0.3413	M	0.61703	1.905	0.80722	D	1	P;D;D	0.54397	0.94;0.964;0.966	P;P;P	0.56700	0.627;0.804;0.525	T	0.75872	-0.3164	9	0.66056	D	0.02	.	15.3816	0.74661	0.0:1.0:0.0:0.0	.	249;337;364	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	Y	160;337;364;126;249;249;84;160	.	ENSP00000329029:D249Y	D	-	1	0	BRF1	104759255	1.000000	0.71417	0.832000	0.32986	0.219000	0.24729	5.154000	0.64894	2.292000	0.77174	0.561000	0.74099	GAC	.		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		A	105688210	C	A	105688210	3	1	9	1	0	0	0	0	1	0	0	0	1514	855	30	3	975	3	BRF1	14	105688210	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	466166	105688210	1661330	511	2098											
HERC2	8924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	28441707	28441707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgatatcttttccattggCactgaaagctaggacagaac	8	8	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:28441707C>A	ENST00000261609.7	-	51	8128	c.8020G>T	c.(8020-8022)Gcc>Tcc	p.A2674S		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)		TTTCCATTGGCACTGAAAGCT	0.438																																					p.A2674S		.											.	HERC2-234	0			c.G8020T						.						86	81	82					15																	28441707		2203	4300	6503	SO:0001583	missense	8924	exon51			CATTGGCACTGAA	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.8020G>T	15.37:g.28441707C>A	ENSP00000261609:p.Ala2674Ser	Somatic	285	1		WXS	Illumina GAIIx	Phase_I	394	94	NM_004667	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873555	0.33069	.	.	ENSG00000128731	ENST00000261609	T	0.38077	1.16	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	N	0.03608	-0.345	0.80722	D	1	B;D	0.63880	0.003;0.993	B;D	0.72625	0.003;0.978	T	0.39663	-0.9603	10	0.14656	T	0.56	.	18.9084	0.92472	0.0:1.0:0.0:0.0	.	141;2674	A8KAQ8;O95714	.;HERC2_HUMAN	S	2674	ENSP00000261609:A2674S	ENSP00000261609:A2674S	A	-	1	0	HERC2	26115302	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.776000	0.85560	2.547000	0.85894	0.484000	0.47621	GCC	.		0.438	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28441707	C	A	28441707	3	1	9	1	0	0	0	0	1	0	0	0	7085	710	25	3	6656	3	HERC2	15	28441707	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		28441707	74089685	512	2099											
TJP1	7082	broad.mit.edu;ucsc.edu	37	chr15	30018654	30018654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagcgcaccataccaacCatcattcattgaatttaagt	4	11	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:30018654C>A	ENST00000346128.6	-	18	2815	c.2341G>T	c.(2341-2343)Ggt>Tgt	p.G781C	RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000356107.6_Missense_Mutation_p.G781C|TJP1_ENST00000400011.2_Missense_Mutation_p.G785C|TJP1_ENST00000545208.2_Missense_Mutation_p.G781C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	781					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)		CCATACCAACCATCATTCATT	0.363																																					p.G781C	Melanoma(77;681 1843 6309 6570)	.											.	TJP1-95	0			c.G2341T						.						103	97	99					15																	30018654		1844	4093	5937	SO:0001583	missense	7082	exon18			ACCAACCATCATT		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.2341G>T	15.37:g.30018654C>A	ENSP00000281537:p.Gly781Cys	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	108	15	NM_175610	0	0	0	1	1	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084570	0.94100	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.00775	-1.1571	9	.	.	.	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	774;781;781;785	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	781;785;781;781;781	ENSP00000281537:G781C;ENSP00000382890:G785C;ENSP00000441202:G781C;ENSP00000348416:G781C	.	G	-	1	0	TJP1	27805946	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	GGT	.		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30018654	C	A	30018654	3	1	9	1	0	0	0	0	1	0	0	0	15976	594	21	3	2949	3	TJP1	15	30018654	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1576947	30018654	72512738	513	2100											
MTMR15	22909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	31217483	31217483	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccagaaatggctgtgcaaGatgtgaaacacgtgaggaaa	12	7	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:31217483G>T	ENST00000362065.4	+	9	2617	c.2326G>T	c.(2326-2328)Gat>Tat	p.D776Y	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	776					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGCTGTGCAAGATGTGAAACA	0.522								Direct reversal of damage																													p.D776Y		.											.	FAN1-90	0			c.G2326T						.						45	45	45					15																	31217483		2202	4300	6502	SO:0001583	missense	22909	exon9			GTGCAAGATGTGA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2326G>T	15.37:g.31217483G>T	ENSP00000354497:p.Asp776Tyr	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	69	15	NM_014967	0	0	2	4	2	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392083	0.62066	.	.	ENSG00000198690	ENST00000362065	D	0.81499	-1.5	5.72	5.72	0.89469	.	0.165234	0.52532	D	0.000073	D	0.90328	0.6974	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.885	D	0.90775	0.4675	10	0.62326	D	0.03	-21.3406	19.4919	0.95054	0.0:0.0:1.0:0.0	.	776;776	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	Y	776	ENSP00000354497:D776Y	ENSP00000354497:D776Y	D	+	1	0	FAN1	29004775	1.000000	0.71417	0.193000	0.23327	0.072000	0.16883	8.514000	0.90545	2.691000	0.91804	0.655000	0.94253	GAT	.		0.522	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		T	31217483	G	T	31217483	3	4	9	1	0	0	0	0	1	0	0	0	9981	942	33	3	2381	3	MTMR15	15	31217483	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1198829	31217483	71313909	514	2101											
TRPM1	4308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	31342674	31342674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttcctctttcactttccCtttcttcttgcctttccctt	1	17	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:31342674C>A	ENST00000256552.6	-	12	1522	c.1375G>T	c.(1375-1377)Ggg>Tgg	p.G459W	TRPM1_ENST00000397795.2_Missense_Mutation_p.G437W|TRPM1_ENST00000542188.1_Missense_Mutation_p.G476W	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)		ttcactttccctttcttcttg	0.547																																					p.G476W		.											.	TRPM1-94	0			c.G1426T						.						199	203	202					15																	31342674		1975	4143	6118	SO:0001583	missense	4308	exon11			CTTTCCCTTTCTT	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.1375G>T	15.37:g.31342674C>A	ENSP00000256552:p.Gly459Trp	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	151	31	NM_001252020	0	0	0	0	0		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643409	0.47258	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.80566	-1.39;-1.39;-1.39	4.8	4.8	0.61643	.	0.174263	0.49305	D	0.000141	D	0.82651	0.5083	N	0.22421	0.69	0.45342	D	0.998332	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.919	D	0.85555	0.1224	10	0.87932	D	0	-23.8729	15.333	0.74229	0.0:1.0:0.0:0.0	.	431;437	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	437;476;459;437	ENSP00000380897:G437W;ENSP00000437849:G476W;ENSP00000256552:G459W	ENSP00000256552:G459W	G	-	1	0	TRPM1	29129966	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.861000	0.62969	2.188000	0.69820	0.313000	0.20887	GGG	.		0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31342674	C	A	31342674	3	1	9	1	0	0	0	0	1	0	0	0	16633	681	24	3	3570	3	TRPM1	15	31342674	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	125191	31342674	71188718	515	2102											
FAM98B	283742	broad.mit.edu;bcgsc.ca	37	chr15	38762452	38762452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaagtacagaacttcaagCttcacagatattacagaaca	5	8	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:38762452C>A	ENST00000491535.1	+	4	385	c.377C>A	c.(376-378)gCt>gAt	p.A126D	FAM98B_ENST00000397609.2_Missense_Mutation_p.A126D	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	126						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)		GAACTTCAAGCTTCACAGATA	0.249																																					p.A126D		.											.	FAM98B-515	0			c.C377A						.						19	19	19					15																	38762452		2178	4276	6454	SO:0001583	missense	283742	exon4			TTCAAGCTTCACA		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	ENST00000491535.1:c.377C>A	15.37:g.38762452C>A	ENSP00000453166:p.Ala126Asp	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_001042429	0	0	10	11	1	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272838	0.80580	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.57273	0.41	4.78	4.78	0.61160	.	0.047350	0.85682	D	0.000000	T	0.76126	0.3944	M	0.84433	2.695	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.78314	0.978;0.991	T	0.80614	-0.1304	10	0.87932	D	0	-17.0805	18.3464	0.90324	0.0:1.0:0.0:0.0	.	126;126	A8MUW5;Q52LJ0	.;FA98B_HUMAN	D	126	ENSP00000380734:A126D	ENSP00000303412:A126D	A	+	2	0	FAM98B	36549744	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.465000	0.66725	2.650000	0.89964	0.585000	0.79938	GCT	.		0.249	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38762452	C	A	38762452	3	1	9	1	0	0	0	0	1	0	0	0	5679	797	28	3	391	3	FAM98B	15	38762452	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	7419778	38762452	63768940	516	2103											
RASGRP1	10125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	38808534	38808534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctttgagtaagtttcctgGaccagtcacgggcattgctt	10	10	1	1	rs377660704		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:38808534G>T	ENST00000310803.5	-	6	716	c.539C>A	c.(538-540)tCc>tAc	p.S180Y	RASGRP1_ENST00000561180.1_Missense_Mutation_p.S231Y|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S180Y|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S132Y|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S180Y|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S180Y	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	180					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AAGTTTCCTGGACCAGTCACG	0.428																																					p.S180Y		.											.	RASGRP1-697	0			c.C539A						.						143	127	132					15																	38808534		1869	4094	5963	SO:0001583	missense	10125	exon6			TTCCTGGACCAGT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.539C>A	15.37:g.38808534G>T	ENSP00000310244:p.Ser180Tyr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	150	23	NM_001128602	0	0	0	0	0	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825368	0.71143	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	L	0.54323	1.7	0.58432	D	0.999996	D;D;D;D	0.71674	0.998;0.979;0.988;0.993	D;P;P;P	0.78314	0.991;0.76;0.76;0.879	T	0.51012	-0.8759	10	0.59425	D	0.04	-23.518	18.912	0.92489	0.0:0.0:1.0:0.0	.	180;180;180;180	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	Y	180;180;180;180;132;180;180	ENSP00000310244:S180Y;ENSP00000388540:S180Y;ENSP00000444762:S132Y;ENSP00000413105:S180Y	ENSP00000310244:S180Y	S	-	2	0	RASGRP1	36595826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.347000	0.79356	2.778000	0.95560	0.655000	0.94253	TCC	.		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		T	38808534	G	T	38808534	3	4	9	1	0	0	0	0	1	0	0	0	13119	1174	41	3	1902	3	RASGRP1	15	38808534	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	46082	38808534	63722858	517	2104											
CHP	11261	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	41523643	41523643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagatcaagaaggagacCggctgtgagttcgggttggg	19	5	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:41523643C>A	ENST00000334660.5	+	1	303	c.63C>A	c.(61-63)acC>acA	p.T21T	CHP1_ENST00000560397.1_Silent_p.T21T|EXD1_ENST00000314992.5_5'Flank|EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000558351.1_Intron|EXD1_ENST00000458580.2_5'Flank	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	21					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										AGAAGGAGACCGGCTGTGAGT	0.677																																					p.T21T		.											.	.	0			c.C63A						.						32	23	26					15																	41523643		2200	4298	6498	SO:0001819	synonymous_variant	11261	exon1			GGAGACCGGCTGT		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.63C>A	15.37:g.41523643C>A		Somatic	118	1		WXS	Illumina GAIIx	Phase_I	203	56	NM_007236	0	0	0	0	0	B2R6H9|Q6FHZ9	Silent	SNP	ENST00000334660.5	37	CCDS10073.1																																																																																			.		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		A	41523643	C	A	41523643	2	1	9	1	0	0	0	0	0	0	0	1	3373	639	23	2		2	CHP	15	41523643	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2715109	41523643	61007749	518	2105											
TYRO3	7301	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	41861213	41861213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtctcttctcatgaCcgtgcaggtgaggcttgtag	14	9	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:41861213C>A	ENST00000263798.3	+	9	1469	c.1245C>A	c.(1243-1245)gaC>gaA	p.D415E	TYRO3_ENST00000559066.1_Missense_Mutation_p.D370E	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTTCTCATGACCGTGCAGGTG	0.577																																					p.D415E		.											.	TYRO3-1388	0			c.C1245A						.						101	87	91					15																	41861213		2203	4300	6503	SO:0001583	missense	7301	exon9			TCATGACCGTGCA	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.1245C>A	15.37:g.41861213C>A	ENSP00000263798:p.Asp415Glu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	112	10	NM_006293	0	0	0	0	0	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183419	0.38609	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.71698	-0.59	4.73	1.78	0.24846	Fibronectin, type III (1);	0.000000	0.44688	D	0.000432	T	0.34919	0.0914	N	0.02539	-0.55	0.26511	N	0.974598	B	0.16802	0.019	B	0.19148	0.024	T	0.24835	-1.0149	10	0.07990	T	0.79	-16.6252	4.4506	0.11619	0.0:0.4934:0.1602:0.3463	.	415	Q06418	TYRO3_HUMAN	E	347;415	ENSP00000263798:D415E	ENSP00000263798:D415E	D	+	3	2	TYRO3	39648505	0.774000	0.28592	1.000000	0.80357	0.993000	0.82548	0.450000	0.21762	0.618000	0.30179	0.655000	0.94253	GAC	.		0.577	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			A	41861213	C	A	41861213	3	1	9	1	0	0	0	0	1	0	0	0	16863	506	18	3	1279	3	TYRO3	15	41861213	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	337570	41861213	60670179	519	2106											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	54825158	54825158	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtataaaacagatgagtttcGaactaaatcaaatgagagca	8	5	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:54825158G>T	ENST00000260323.11	+	25	5590	c.5590G>T	c.(5590-5592)Gaa>Taa	p.E1864*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E1864*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1862*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1864					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)		GATGAGTTTCGAACTAAATCA	0.308																																					p.E1864X		.											.	UNC13C-51	0			c.G5590T						.						75	71	72					15																	54825158		1811	4081	5892	SO:0001587	stop_gained	440279	exon24			AGTTTCGAACTAA	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.5590G>T	15.37:g.54825158G>T	ENSP00000260323:p.Glu1864*	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	116	33	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963702	0.92791	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.59	5.59	0.84812	.	0.055470	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	18.5841	0.91182	0.0:0.0:1.0:0.0	.	.	.	.	X	1864;1864;1862	.	ENSP00000260323:E1864X	E	+	1	0	UNC13C	52612450	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.435000	0.73412	2.631000	0.89168	0.561000	0.74099	GAA	.		0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54825158	G	T	54825158	4	4	9	1	0	0	0	0	0	1	0	0	17035	1059	37	2	5684	2	UNC13C	15	54825158	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	12963945	54825158	47706234	520	2107											
CGNL1	84952	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	57731629	57731629	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaaaccgaaggtagtcagGaaagtacagtgatccgtgcg	14	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:57731629G>T	ENST00000281282.5	+	2	1510	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	478	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGTAGTCAGGAAAGTACAGT	0.567																																					p.E478X		.											.	CGNL1-100	0			c.G1432T						.						62	62	62					15																	57731629		2192	4292	6484	SO:0001587	stop_gained	84952	exon3			AGTCAGGAAAGTA	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1432G>T	15.37:g.57731629G>T	ENSP00000281282:p.Glu478*	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	171	24	NM_001252335	0	0	0	0	0	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200562	0.97371	.	.	ENSG00000128849	ENST00000281282	.	.	.	5.63	4.71	0.59529	.	4.124770	0.00582	N	0.000326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.5541	16.4069	0.83677	0.0:0.1393:0.8606:0.0	.	.	.	.	X	478	.	ENSP00000281282:E478X	E	+	1	0	CGNL1	55518921	0.137000	0.22531	0.011000	0.14972	0.096000	0.18686	2.755000	0.47540	1.367000	0.46095	0.655000	0.94253	GAA	.		0.567	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57731629	G	T	57731629	4	4	9	1	0	0	0	0	0	1	0	0	3311	1175	41	3	1434	3	CGNL1	15	57731629	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2906471	57731629	44799763	521	2108											
VPS13C	54832	bcgsc.ca	37	chr15	62209759	62209759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcctatgaagttcttcCttccaggaaatataagtggt	8	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:62209759C>A	ENST00000261517.5	-	60	7909	c.7836G>T	c.(7834-7836)aaG>aaT	p.K2612N	RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.K2569N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2612N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2569N	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGTTCTTCCTTCCAGGAAA	0.428																																					p.K2612N		.											.	VPS13C-92	0			c.G7836T						.						92	89	90					15																	62209759		2203	4300	6503	SO:0001583	missense	54832	exon60			TTCTTCCTTCCAG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7836G>T	15.37:g.62209759C>A	ENSP00000261517:p.Lys2612Asn	Somatic	163	2		WXS	Illumina GAIIx	Phase_I	184	15	NM_020821	0	0	2	3	1		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579833	0.65992	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.52526	0.67;0.66;0.84	5.86	1.84	0.25277	.	0.089637	0.85682	D	0.000000	T	0.53850	0.1822	M	0.72118	2.19	0.53688	D	0.99997	P;B;D;P	0.53619	0.57;0.317;0.961;0.911	B;B;P;P	0.50314	0.138;0.138;0.637;0.467	T	0.58555	-0.7616	10	0.72032	D	0.01	.	11.3327	0.49485	0.0:0.6935:0.0:0.3065	.	2569;2612;2569;2612	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	2569;2612;2612;2612	ENSP00000249837:K2569N;ENSP00000261517:K2612N;ENSP00000379233:K2612N	ENSP00000249837:K2569N	K	-	3	2	VPS13C	59997051	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.682000	0.25335	0.380000	0.24823	0.650000	0.86243	AAG	.		0.428	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62209759	C	A	62209759	3	1	9	1	0	0	0	0	1	0	0	0	17240	680	24	3	3557	3	VPS13C	15	62209759	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4478130	62209759	40321633	522	2109											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63017258	63017258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgaactgcaggatgccaaGatggcagccgtggagagcca	14	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:63017258G>T	ENST00000561311.1	+	26	3440	c.3210G>T	c.(3208-3210)aaG>aaT	p.K1070N	TLN2_ENST00000306829.6_Missense_Mutation_p.K1070N			Q9Y4G6	TLN2_HUMAN	talin 2	1070	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGATGCCAAGATGGCAGCCG	0.527																																					p.K1070N		.											.	TLN2-573	0			c.G3210T						.						57	56	56					15																	63017258		2203	4300	6503	SO:0001583	missense	83660	exon24			TGCCAAGATGGCA	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.3210G>T	15.37:g.63017258G>T	ENSP00000453508:p.Lys1070Asn	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	56	20	NM_015059	0	0	0	0	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051115	0.55218	.	.	ENSG00000171914	ENST00000306829	T	0.68765	-0.35	5.54	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.73962	2.25	0.53005	D	0.999964	P	0.40398	0.716	P	0.46026	0.501	T	0.69899	-0.5020	10	0.44086	T	0.13	-28.5555	9.8644	0.41134	0.1832:0.0:0.8168:0.0	.	1070	Q9Y4G6	TLN2_HUMAN	N	1070	ENSP00000303476:K1070N	ENSP00000303476:K1070N	K	+	3	2	TLN2	60804550	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.164000	0.58190	2.765000	0.95021	0.655000	0.94253	AAG	.		0.527	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63017258	G	T	63017258	3	4	9	1	0	0	0	0	1	0	0	0	15995	933	33	3	3304	3	TLN2	15	63017258	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	807499	63017258	39514134	523	2110											
CLPX	10845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65443246	65443246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaggattcttttgttGgagccctacaatgaaaagcc	9	9	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:65443246G>T	ENST00000300107.3	-	14	2005	c.1817C>A	c.(1816-1818)cCa>cAa	p.P606Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	606					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						TTCTTTTGTTGGAGCCCTACA	0.388																																					p.P606Q		.											.	CLPX-90	0			c.C1817A						.						111	113	112					15																	65443246		2202	4299	6501	SO:0001583	missense	10845	exon14			TTTGTTGGAGCCC	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.1817C>A	15.37:g.65443246G>T	ENSP00000300107:p.Pro606Gln	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	37	16	NM_006660	0	0	0	0	0	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566249	0.45694	.	.	ENSG00000166855	ENST00000300107	T	0.16457	2.34	5.92	5.92	0.95590	.	0.225469	0.45867	D	0.000339	T	0.11239	0.0274	N	0.14661	0.345	0.42886	D	0.994182	B	0.13145	0.007	B	0.08055	0.003	T	0.21690	-1.0238	10	0.21540	T	0.41	.	15.0911	0.72195	0.0:0.0:0.8583:0.1416	.	606	O76031	CLPX_HUMAN	Q	606	ENSP00000300107:P606Q	ENSP00000300107:P606Q	P	-	2	0	CLPX	63230299	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	9.712000	0.98738	2.810000	0.96702	0.585000	0.79938	CCA	.		0.388	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		T	65443246	G	T	65443246	3	4	9	1	0	0	0	0	1	0	0	0	3563	1348	47	3	88	3	CLPX	15	65443246	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2425988	65443246	37088146	524	2111											
SNAPC5	10302	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	66787699	66787699	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcaggtacagtgtgagaaGacagcatctcatcccctctt	9	11	3	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:66787699G>T	ENST00000316634.5	-	2	230	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000566658.1_Intron|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000395589.2_Missense_Mutation_p.S50Y|SNAPC5_ENST00000563480.2_Missense_Mutation_p.S50Y			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	50					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						AGTGTGAGAAGACAGCATCTC	0.448																																					p.S50Y		.											.	SNAPC5-90	0			c.C149A						.						184	153	163					15																	66787699		2201	4299	6500	SO:0001583	missense	10302	exon2			TGAGAAGACAGCA	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"small nuclear RNA activating complex, polypeptide 5, 19kD"			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.149C>A	15.37:g.66787699G>T	ENSP00000319597:p.Ser50Tyr	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	149	44	NM_006049	0	0	17	20	3	A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090040	0.76756	.	.	ENSG00000174446	ENST00000395589;ENST00000316634	.	.	.	5.22	4.24	0.50183	.	1.412510	0.03707	N	0.249606	T	0.59348	0.2187	.	.	.	0.80722	D	1	B	0.27791	0.189	B	0.27715	0.082	T	0.35574	-0.9783	8	0.51188	T	0.08	1.8986	14.2082	0.65748	0.0:0.0:0.7763:0.2237	.	50	O75971	SNPC5_HUMAN	Y	50	.	ENSP00000319597:S50Y	S	-	2	0	SNAPC5	64574753	0.930000	0.31532	0.976000	0.42696	0.464000	0.32679	2.619000	0.46401	2.715000	0.92844	0.655000	0.94253	TCT	.		0.448	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			T	66787699	G	T	66787699	3	4	9	1	0	0	0	0	1	0	0	0	14883	942	33	3	155	3	SNAPC5	15	66787699	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1344453	66787699	35743693	525	2112											
CD276	80381	broad.mit.edu	37	chr15	73994904	73994904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgagcatccgggatttcGgcagcgctgccgtcagcctg	14	13	1	1	rs371804365		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:73994904G>T	ENST00000318443.5	+	3	690	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C	CD276_ENST00000537340.2_5'UTR|CD276_ENST00000561213.1_Missense_Mutation_p.G130C|CD276_ENST00000564751.1_Missense_Mutation_p.G130C|CD276_ENST00000318424.5_Missense_Mutation_p.G130C	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	130	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CCGGGATTTCGGCAGCGCTGC	0.687																																					p.G130C		.											.	CD276-91	0			c.G388T						.						29	27	28					15																	73994904		2197	4291	6488	SO:0001583	missense	80381	exon3			GATTTCGGCAGCG	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.388G>T	15.37:g.73994904G>T	ENSP00000320084:p.Gly130Cys	Somatic	70	2		WXS	Illumina GAIIx	Phase_I	149	17	NM_025240	0	0	107	112	5	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155365	0.21454	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823	T;T	0.27557	1.66;1.81	2.43	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45196	0.1330	M	0.71871	2.18	0.32180	N	0.580441	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	P;D;D;P	0.65010	0.748;0.931;0.922;0.872	T	0.54282	-0.8317	9	0.59425	D	0.04	.	3.678	0.08299	0.3775:0.0:0.6225:0.0	.	76;130;130;130	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	C	130	ENSP00000320058:G130C;ENSP00000320084:G130C	ENSP00000320058:G130C	G	+	1	0	CD276	71781957	0.994000	0.37717	0.983000	0.44433	0.041000	0.13682	2.887000	0.48586	1.667000	0.50832	0.313000	0.20887	GGC	.		0.687	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		T	73994904	G	T	73994904	3	4	9	1	0	0	0	0	1	0	0	0	2999	1116	39	2	394	2	CD276	15	73994904	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7207205	73994904	28536488	526	2113											
CSK	1445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75091628	75091628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagttggttccacggcaaGatcacacgggagcaggctga	13	12	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:75091628G>T	ENST00000220003.9	+	5	987	c.258G>T	c.(256-258)aaG>aaT	p.K86N	CSK_ENST00000439220.2_Missense_Mutation_p.K86N|CSK_ENST00000309470.9_Missense_Mutation_p.K86N|CSK_ENST00000567571.1_Missense_Mutation_p.K86N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	86	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						TCCACGGCAAGATCACACGGG	0.637																																					p.K86N		.											.	CSK-510	0			c.G258T						.						57	55	55					15																	75091628		2197	4296	6493	SO:0001583	missense	1445	exon6			CGGCAAGATCACA		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.258G>T	15.37:g.75091628G>T	ENSP00000220003:p.Lys86Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	92	31	NM_001127190	0	0	27	31	4	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166176	0.57476	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.89485	-2.52;-2.52;-2.52	4.46	4.46	0.54185	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	N	0.25380	0.74	0.80722	D	1	B	0.28760	0.221	B	0.36244	0.22	T	0.82995	-0.0180	10	0.38643	T	0.18	-26.765	16.8977	0.86105	0.0:0.0:1.0:0.0	.	86	P41240	CSK_HUMAN	N	86	ENSP00000220003:K86N;ENSP00000414764:K86N;ENSP00000438808:K86N	ENSP00000220003:K86N	K	+	3	2	CSK	72878681	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.192000	0.58378	2.323000	0.78572	0.313000	0.20887	AAG	.		0.637	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		T	75091628	G	T	75091628	3	4	9	1	0	0	0	0	1	0	0	0	3952	933	33	3	272	3	CSK	15	75091628	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1096724	75091628	27439764	527	2114											
SNUPN	10073	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	75890858	75890858	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcttcttgtgctccataatCtgctggagctggtgcccagc	10	13	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:75890858C>A	ENST00000564644.1	-	10	1502	c.924G>T	c.(922-924)caG>caT	p.Q308H	CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.Q308H|SNUPN_ENST00000308588.5_Missense_Mutation_p.Q308H|SNUPN_ENST00000371091.5_Missense_Mutation_p.Q350H|SNUPN_ENST00000564675.1_Missense_Mutation_p.Q308H			O95149	SPN1_HUMAN	snurportin 1	308	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTCCATAATCTGCTGGAGCT	0.562																																					p.Q308H		.											.	SNUPN-91	0			c.G924T						.						131	133	133					15																	75890858		2197	4294	6491	SO:0001583	missense	10073	exon9			CATAATCTGCTGG	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.924G>T	15.37:g.75890858C>A	ENSP00000454852:p.Gln308His	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	98	9	NM_001042581	0	0	33	43	10	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128147	0.77549	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.62941	-0.01;-0.01	5.9	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.962;0.994	T	0.76143	-0.3067	10	0.56958	D	0.05	-34.1854	9.2723	0.37679	0.0:0.7912:0.0:0.2087	.	350;308	C9K0X5;O95149	.;SPN1_HUMAN	H	308;350	ENSP00000309831:Q308H;ENSP00000360132:Q350H	ENSP00000309831:Q308H	Q	-	3	2	SNUPN	73677913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.991000	0.49409	0.856000	0.35383	0.555000	0.69702	CAG	.		0.562	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		A	75890858	C	A	75890858	3	1	9	1	0	0	0	0	1	0	0	0	14922	912	32	3	162	3	SNUPN	15	75890858	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	799230	75890858	26640534	528	2115											
IREB2	3658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	78732221	78732221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctaaacttggcaccaagtAtggtaatgttgctttacatt	7	7	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:78732221A>G	ENST00000258886.8	+	2	253	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	IREB2_ENST00000560440.1_Missense_Mutation_p.Y35C	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	35					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)		GGCACCAAGTATGGTAATGTT	0.323																																					p.Y35C	NSCLC(200;764 2208 35157 49871 50830)	.											.	IREB2-90	0			c.A104G						.						142	119	127					15																	78732221		2196	4293	6489	SO:0001583	missense	3658	exon2			CCAAGTATGGTAA	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.104A>G	15.37:g.78732221A>G	ENSP00000258886:p.Tyr35Cys	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_004136	0	0	0	0	0	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548273	0.65311	.	.	ENSG00000136381	ENST00000258886	T	0.17691	2.26	4.92	4.92	0.64577	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.86343	2.81	0.48341	D	0.999633	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.50988	-0.8762	10	0.66056	D	0.02	.	10.9826	0.47504	1.0:0.0:0.0:0.0	.	35;35	P48200;Q8WVK6	IREB2_HUMAN;.	C	35	ENSP00000258886:Y35C	ENSP00000258886:Y35C	Y	+	2	0	IREB2	76519276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.474000	0.60203	1.845000	0.53610	0.383000	0.25322	TAT	.		0.323	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		G	78732221	A	G	78732221	3	3	9	1	0	0	0	0	1	0	0	0	7853	449	16	4	110	4	IREB2	15	78732221	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	2841363	78732221	23799171	529	2116											
MESDC1	59274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81295513	81295513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtgtcggcctgcgtgCtcctgacccagtgcctcagg	15	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:81295513C>A	ENST00000267984.2	+	1	2219	c.901C>A	c.(901-903)Ctc>Atc	p.L301I		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	301										endometrium(1)|lung(2)	3						GGCCTGCGTGCTCCTGACCCA	0.716																																					p.L301I		.											.	MESDC1-90	0			c.C901A						.						11	11	11					15																	81295513		2196	4284	6480	SO:0001583	missense	59274	exon1			TGCGTGCTCCTGA	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.901C>A	15.37:g.81295513C>A	ENSP00000267984:p.Leu301Ile	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_022566	0	0	15	28	13		Missense_Mutation	SNP	ENST00000267984.2	37	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366103	0.61513	.	.	ENSG00000140406	ENST00000267984	T	0.09255	3.0	4.94	4.02	0.46733	.	0.000000	0.64402	U	0.000002	T	0.16128	0.0388	L	0.32530	0.975	0.52501	D	0.999956	D	0.56968	0.978	P	0.56343	0.796	T	0.03184	-1.1063	10	0.27082	T	0.32	-12.5919	12.9661	0.58485	0.0:0.9214:0.0:0.0786	.	301	Q9H1K6	MESD1_HUMAN	I	301	ENSP00000267984:L301I	ENSP00000267984:L301I	L	+	1	0	MESDC1	79082568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	1.078000	0.41014	0.448000	0.29417	CTC	.		0.716	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		A	81295513	C	A	81295513	3	1	9	1	0	0	0	0	1	0	0	0	9518	797	28	3	903	3	MESDC1	15	81295513	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2563292	81295513	21235879	530	2117											
AGBL1	123624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86806035	86806035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttggaaacagacgtgaaCaagctgagttccaaacctgg	11	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:86806035C>A	ENST00000441037.2	+	9	953	c.858C>A	c.(856-858)aaC>aaA	p.N286K	AGBL1_ENST00000389298.3_Missense_Mutation_p.N17K|AGBL1_ENST00000421325.2_Missense_Mutation_p.N286K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	286					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGACGTGAACAAGCTGAGTT	0.423																																					p.N286K		.											.	.	0			c.C858A						.						153	156	155					15																	86806035		1974	4165	6139	SO:0001583	missense	123624	exon9			CGTGAACAAGCTG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.858C>A	15.37:g.86806035C>A	ENSP00000413001:p.Asn286Lys	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	195	29	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470721	0.26423	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.41758	0.99;2.71	5.5	3.43	0.39272	Armadillo-type fold (1);	0.991997	0.08199	N	0.982540	T	0.38081	0.1027	L	0.53249	1.67	0.23559	N	0.997416	B;B	0.20052	0.041;0.001	B;B	0.16722	0.016;0.002	T	0.28870	-1.0030	10	0.44086	T	0.13	-2.3552	6.5407	0.22378	0.1431:0.6299:0.0:0.227	.	17;286	Q96MI9-3;Q96MI9	.;CBPC4_HUMAN	K	315;286;17	ENSP00000397173:N286K;ENSP00000373949:N17K	ENSP00000373949:N17K	N	+	3	2	AGBL1	84607039	0.997000	0.39634	0.863000	0.33907	0.387000	0.30353	0.982000	0.29539	1.321000	0.45227	0.655000	0.94253	AAC	.		0.423	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86806035	C	A	86806035	3	1	9	1	0	0	0	0	1	0	0	0	375	477	17	3	888	3	AGBL1	15	86806035	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5510522	86806035	15725357	531	2118											
KIF7	374654	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	90190829	90190829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagcgggcgccgcacctGcagtttgtactgctccatgg	14	12	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr15:90190829G>T	ENST00000394412.3	-	6	1634	c.1558C>A	c.(1558-1560)Cag>Aag	p.Q520K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	520	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCCGCACCTGCAGTTTGTAC	0.627											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q520K		.											.	KIF7-523	0			c.C1558A						.						52	45	47					15																	90190829		2200	4299	6499	SO:0001583	missense	374654	exon6			GCACCTGCAGTTT	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.1558C>A	15.37:g.90190829G>T	ENSP00000377934:p.Gln520Lys	Somatic	67	1	1273	WXS	Illumina GAIIx	Phase_I	60	27	NM_198525	0	0	0	0	0	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	36	5.728353	0.96856	.	.	ENSG00000166813	ENST00000394412	T	0.75154	-0.91	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.74881	2.28	0.58432	D	0.999998	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.81145	-0.1066	10	0.14252	T	0.57	.	18.7126	0.91662	0.0:0.0:1.0:0.0	.	7;520	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	520	ENSP00000377934:Q520K	ENSP00000377934:Q520K	Q	-	1	0	KIF7	87991833	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.535000	0.98064	2.418000	0.82041	0.591000	0.81541	CAG	.		0.627	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		T	90190829	G	T	90190829	3	4	9	1	0	0	0	0	1	0	0	0	8336	1328	46	3	2529	3	KIF7	15	90190829	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3384794	90190829	12340563	532	2119											
HAGHL	84264	hgsc.bcm.edu	37	chr16	778414	778414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattgcccggacccacccgcCctgttctcgggtacccgcag	11	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:778414C>A	ENST00000341413.4	+	5	668	c.387C>A	c.(385-387)gcC>gcA	p.A129A	CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000389703.3_Silent_p.A129A|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000564537.1_Silent_p.A129A|HAGHL_ENST00000564545.1_Intron|HAGHL_ENST00000549114.1_Silent_p.A129A|HAGHL_ENST00000561546.1_Silent_p.A129A			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	129							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				ACCCACCCGCCCTGTTCTCGG	0.746																																					p.A129A	Pancreas(46;538 1326 12403 32360)	.											.	HAGHL-90	0			c.C387A						.						5	6	6					16																	778414		2038	4076	6114	SO:0001819	synonymous_variant	84264	exon4			ACCCGCCCTGTTC	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"hydroxyacyl glutathione hydrolase-like"			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.387C>A	16.37:g.778414C>A		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	32	9	NM_032304	0	0	0	0	0	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Silent	SNP	ENST00000341413.4	37		.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317703	0.05386	.	.	ENSG00000103253	ENST00000389701	.	.	.	4.42	-0.77	0.11005	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60203	-0.7309	5	0.87932	D	0	-7.0616	6.6436	0.22923	0.0:0.3996:0.3353:0.265	.	.	.	.	T	157	.	ENSP00000374351:P157T	P	+	1	0	HAGHL	718415	0.001000	0.12720	0.058000	0.19502	0.520000	0.34377	-1.828000	0.01702	-0.016000	0.14127	0.561000	0.74099	CCT	.		0.746	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		A	778414	C	A	778414	2	1	9	1	0	0	0	0	0	0	0	1	6973	610	22	3		3	HAGHL	16	778414	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		778414	89576339	533	2120											
PTX4	390667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	1537885	1537885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctcttccgccaggctccgGaaccggacgtcaacgttgta	10	15	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:1537885G>T	ENST00000447419.2	-	2	253	c.228C>A	c.(226-228)ttC>ttA	p.F76L	PTX4_ENST00000440447.2_Missense_Mutation_p.F76L|PTX4_ENST00000293922.1_Missense_Mutation_p.F71L			Q96A99	PTX4_HUMAN	pentraxin 4, long	76						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGGCTCCGGAACCGGACGT	0.617																																					p.F71L		.											.	PTX4-90	0			c.C213A						.						100	101	100					16																	1537885		2190	4288	6478	SO:0001583	missense	390667	exon2			GCTCCGGAACCGG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.228C>A	16.37:g.1537885G>T	ENSP00000445277:p.Phe76Leu	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	192	25	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		.	.	.	.	.	.	.	.	.	.	G	9.930	1.214509	0.22289	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.10763	2.93;2.84	5.78	4.82	0.62117	.	0.297978	0.31082	N	0.008281	T	0.12263	0.0298	L	0.54323	1.7	0.45806	D	0.998689	B	0.29115	0.233	B	0.25614	0.062	T	0.03051	-1.1078	10	0.48119	T	0.1	.	12.1603	0.54101	0.0:0.0:0.8288:0.1712	.	71	Q96A99-2	.	L	76;71	ENSP00000445277:F76L;ENSP00000293922:F71L	ENSP00000293922:F71L	F	-	3	2	PTX4	1477886	1.000000	0.71417	0.163000	0.22734	0.019000	0.09904	2.118000	0.41949	1.432000	0.47375	0.563000	0.77884	TTC	.		0.617	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		T	1537885	G	T	1537885	3	4	9	1	0	0	0	0	1	0	0	0	12868	1165	41	3	1215	3	PTX4	16	1537885	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	759471	1537885	88816868	534	2121											
CREBBP	1387	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3843582	3843582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcagtggggcctgttgCaattgcttgtgtgggtacaa	14	7	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:3843582C>A	ENST00000262367.5	-	4	1830	c.1021G>T	c.(1021-1023)Gca>Tca	p.A341S	CREBBP_ENST00000382070.3_Missense_Mutation_p.A341S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	341	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGCCTGTTGCAATTGCTTGT	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.A341S		.		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP-1807	0			c.G1021T						.						179	145	156					16																	3843582		2197	4300	6497	SO:0001583	missense	1387	exon4			CTGTTGCAATTGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1021G>T	16.37:g.3843582C>A	ENSP00000262367:p.Ala341Ser	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	116	34	NM_001079846	0	0	2	3	1	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291526	0.59976	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83506	-1.73;-1.63	5.91	4.96	0.65561	Zinc finger, TAZ-type (1);	0.177306	0.39407	N	0.001370	T	0.66925	0.2839	N	0.04880	-0.145	0.39740	D	0.97173	B;B	0.31026	0.304;0.118	B;B	0.31547	0.132;0.082	T	0.65442	-0.6167	10	0.16420	T	0.52	-5.3158	15.2399	0.73461	0.0:0.9329:0.0:0.0671	.	409;341	Q4LE28;Q92793	.;CBP_HUMAN	S	341;409;341	ENSP00000262367:A341S;ENSP00000371502:A341S	ENSP00000262367:A341S	A	-	1	0	CREBBP	3783583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	1.499000	0.48617	0.655000	0.94253	GCA	.		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3843582	C	A	3843582	3	1	9	1	0	0	0	0	1	0	0	0	3868	710	25	3	6419	3	CREBBP	16	3843582	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2305697	3843582	86511171	535	2122											
RSL1D1	26156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	11940360	11940360	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgccttttacctacctGcaagaaccacttttagaaat	5	10	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:11940360G>T	ENST00000571133.1	-	5	705	c.633C>A	c.(631-633)tgC>tgA	p.C211*	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	211					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTACCTACCTGCAAGAACCAC	0.313																																					p.C211X		.											.	RSL1D1-90	0			c.C633A						.						82	79	80					16																	11940360		2197	4300	6497	SO:0001587	stop_gained	26156	exon5			CTACCTGCAAGAA	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.633C>A	16.37:g.11940360G>T	ENSP00000460871:p.Cys211*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	113	27	NM_015659	0	0	0	0	0	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Nonsense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605680	0.87157	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9139	10.1551	0.42818	0.0907:0.0:0.9093:0.0	.	.	.	.	X	211	.	ENSP00000347897:C211X	C	-	3	2	RSL1D1	11847861	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.491000	0.45303	2.502000	0.84385	0.555000	0.69702	TGC	.		0.313	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		T	11940360	G	T	11940360	4	4	9	1	0	0	0	0	0	1	0	0	13745	1311	46	3	859	3	RSL1D1	16	11940360	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8096778	11940360	78414393	536	2123											
PDXDC1	23042	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	15102644	15102644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctgcagctcggcttGcccttcccctgcttgtgccg	9	17	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:15102644G>T	ENST00000396410.4	+	7	685	c.588G>T	c.(586-588)ttG>ttT	p.L196F	PDXDC1_ENST00000447912.2_Missense_Mutation_p.L105F|PDXDC1_ENST00000569715.1_Missense_Mutation_p.L169F|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Missense_Mutation_p.L196F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.L168F|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000563679.1_Missense_Mutation_p.L214F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.L181F	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	196					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTCGGCTTGCCCTTCCCCT	0.463																																					p.L196F		.											.	PDXDC1-91	0			c.G588T						.						347	291	310					16																	15102644		2197	4300	6497	SO:0001583	missense	23042	exon7			CGGCTTGCCCTTC	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.588G>T	16.37:g.15102644G>T	ENSP00000379691:p.Leu196Phe	Somatic	255	3		WXS	Illumina GAIIx	Phase_I	254	33	NM_015027	0	0	0	0	0	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921213	0.73213	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.8	-1.53	0.08611	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	T	0.47192	0.1432	L	0.53671	1.685	0.53005	D	0.999965	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.45556	-0.9253	10	0.38643	T	0.18	-9.0105	2.8395	0.05525	0.4126:0.1099:0.3654:0.1121	.	168;105;181;196;168;196	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	F	181;105;196;196;168	ENSP00000322807:L181F;ENSP00000400310:L105F;ENSP00000437835:L196F;ENSP00000379691:L196F;ENSP00000391147:L168F	ENSP00000322807:L181F	L	+	3	2	PDXDC1	15010145	0.962000	0.33011	0.998000	0.56505	0.939000	0.58152	0.065000	0.14466	0.091000	0.17302	-0.142000	0.14014	TTG	.		0.463	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		T	15102644	G	T	15102644	3	4	9	1	0	0	0	0	1	0	0	0	11735	1310	46	3	614	3	PDXDC1	16	15102644	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3162284	15102644	75252109	537	2124											
ACSM3	6296	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	20787314	20787314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagaggagatcgggtaattCtgattctgcccagggtccca	12	9	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:20787314C>A	ENST00000289416.5	+	3	848	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	ACSM3_ENST00000450120.2_Missense_Mutation_p.L80M|ACSM3_ENST00000440284.2_Missense_Mutation_p.L125M	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	125					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCGGGTAATTCTGATTCTGCC	0.453																																					p.L125M		.											.	ACSM3-91	0			c.C373A						.						90	93	92					16																	20787314		2201	4300	6501	SO:0001583	missense	6296	exon3			GTAATTCTGATTC	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.373C>A	16.37:g.20787314C>A	ENSP00000289416:p.Leu125Met	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	134	12	NM_005622	0	0	121	125	4	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817035	0.32145	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52057	0.68;0.68;0.68	5.81	-4.33	0.03677	AMP-dependent synthetase/ligase (1);	0.790188	0.11719	N	0.536046	T	0.35219	0.0924	L	0.55103	1.725	0.09310	N	1	B;B;P	0.41366	0.287;0.287;0.747	B;B;B	0.41466	0.292;0.2;0.358	T	0.25745	-1.0123	10	0.56958	D	0.05	-10.8026	1.8911	0.03248	0.1487:0.1778:0.3194:0.354	.	80;125;125	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	M	125;125;80	ENSP00000289416:L125M;ENSP00000394565:L125M;ENSP00000395297:L80M	ENSP00000289416:L125M	L	+	1	2	ACSM3	20694815	0.000000	0.05858	0.068000	0.19968	0.725000	0.41563	-1.688000	0.01925	-0.666000	0.05310	-1.468000	0.01013	CTG	.		0.453	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		A	20787314	C	A	20787314	3	1	9	1	0	0	0	0	1	0	0	0	185	912	32	3	379	3	ACSM3	16	20787314	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5684670	20787314	69567439	538	2125											
GGA2	23062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23491135	23491135	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggcaccacagtccccatCtgcgcaggtccattgtccac	9	16	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:23491135C>A	ENST00000309859.4	-	11	1162	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	360	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CAGTCCCCATCTGCGCAGGTC	0.577																																					p.Q360H		.											.	GGA2-91	0			c.G1080T						.						125	91	102					16																	23491135		2197	4300	6497	SO:0001583	missense	23062	exon11			CCCCATCTGCGCA	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1080G>T	16.37:g.23491135C>A	ENSP00000311962:p.Gln360His	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	117	26	NM_015044	0	0	43	60	17	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	2.596	-0.294026	0.05568	.	.	ENSG00000103365	ENST00000309859	T	0.15256	2.44	4.05	2.0	0.26442	.	1.580660	0.03211	N	0.176190	T	0.17238	0.0414	L	0.47716	1.5	0.22354	N	0.999172	B	0.10296	0.003	B	0.06405	0.002	T	0.24512	-1.0158	10	0.44086	T	0.13	-0.8429	4.7697	0.13150	0.2124:0.6746:0.0:0.113	.	360	Q9UJY4	GGA2_HUMAN	H	360	ENSP00000311962:Q360H	ENSP00000311962:Q360H	Q	-	3	2	GGA2	23398636	0.078000	0.21339	0.120000	0.21714	0.041000	0.13682	0.168000	0.16622	0.451000	0.26802	0.655000	0.94253	CAG	.		0.577	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			A	23491135	C	A	23491135	3	1	9	1	0	0	0	0	1	0	0	0	6379	912	32	3	789	3	GGA2	16	23491135	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2703821	23491135	66863618	539	2126											
IL21R	50615	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	27454345	27454345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagtataatatctcctggCgctcagattacgaagaccct	8	11	2	2	rs146177564	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:27454345C>A	ENST00000337929.3	+	5	888	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	IL21R_ENST00000395754.4_Missense_Mutation_p.R139S|IL21R_ENST00000395755.1_Missense_Mutation_p.R139S|IL21R_ENST00000564089.1_Missense_Mutation_p.R139S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	139	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TATCTCCTGGCGCTCAGATTA	0.527			T	BCL6	NHL																																p.R161S		.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R-660	0			c.C481A						.						111	105	107					16																	27454345		2197	4300	6497	SO:0001583	missense	50615	exon6			TCCTGGCGCTCAG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.415C>A	16.37:g.27454345C>A	ENSP00000338010:p.Arg139Ser	Somatic	175	2		WXS	Illumina GAIIx	Phase_I	221	50	NM_181079	0	0	0	1	1	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.611081	0.00835	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95656	-3.77;-3.77;-3.77	4.7	-0.192	0.13248	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.834416	0.11201	N	0.588793	T	0.74374	0.3708	N	0.00237	-1.79	0.19945	N	0.999943	B	0.11235	0.004	B	0.09377	0.004	T	0.71220	-0.4657	10	0.07813	T	0.8	-2.3898	0.7673	0.01017	0.4063:0.2191:0.229:0.1456	.	139	Q9HBE5	IL21R_HUMAN	S	139	ENSP00000338010:R139S;ENSP00000379104:R139S;ENSP00000379103:R139S	ENSP00000338010:R139S	R	+	1	0	IL21R	27361846	0.007000	0.16637	0.165000	0.22776	0.018000	0.09664	-0.190000	0.09615	-0.313000	0.08728	-0.350000	0.07774	CGC	C|1.000;T|0.000		0.527	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27454345	C	A	27454345	3	1	9	1	0	0	0	0	1	0	0	0	7698	768	27	2	429	2	IL21R	16	27454345	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3963210	27454345	62900408	540	2127											
KCTD13	253980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	29918291	29918291	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acggtgctctcggttctcttCatcctccccgcggccagccc	9	19	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:29918291C>A	ENST00000568000.1	-	6	1893	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	298					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGGTTCTCTTCATCCTCCCCG	0.637																																					p.E298X		.											.	KCTD13-90	0			c.G892T						.						99	94	96					16																	29918291		2197	4300	6497	SO:0001587	stop_gained	253980	exon6			TCTCTTCATCCTC	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"polymerase delta-interacting protein 1", "TNFAIP1-like"	608947	"potassium channel tetramerisation domain containing 13"			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.892G>T	16.37:g.29918291C>A	ENSP00000455785:p.Glu298*	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	147	21	NM_178863	0	0	45	51	6	A8K0R5|Q96P93|Q96SA1	Nonsense_Mutation	SNP	ENST00000568000.1	37	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533919	0.85812	.	.	ENSG00000174943	ENST00000308768	.	.	.	5.0	5.0	0.66597	.	0.305918	0.23722	N	0.045217	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.424	17.0687	0.86567	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	ENSP00000311202:E298X	E	-	1	0	KCTD13	29825792	1.000000	0.71417	0.996000	0.52242	0.638000	0.38207	7.794000	0.85869	2.315000	0.78130	0.467000	0.42956	GAA	.		0.637	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		A	29918291	C	A	29918291	4	1	9	1	0	0	0	0	0	1	0	0	8127	835	29	3	101	3	KCTD13	16	29918291	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2463946	29918291	60436462	541	2128											
GDPD3	79153	broad.mit.edu	37	chr16	30123477	30123477	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgcatttcttcatgacCgagctcttctccgaggccca	8	15	4	1	rs150465018		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30123477C>A	ENST00000406256.3	-	6	926	c.549G>T	c.(547-549)tcG>tcT	p.S183S	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	183	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCTTCATGACCGAGCTCTTCT	0.622											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S183S		.											.	GDPD3-90	0			c.G549T						.						60	57	58					16																	30123477		2197	4300	6497	SO:0001819	synonymous_variant	79153	exon6			CATGACCGAGCTC	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.549G>T	16.37:g.30123477C>A		Somatic	88	2	814	WXS	Illumina GAIIx	Phase_I	123	20	NM_024307	0	0	1	1	0	Q9H652	Silent	SNP	ENST00000406256.3	37	CCDS10671.2																																																																																			C|1.000;T|0.000		0.622	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		A	30123477	C	A	30123477	2	1	9	1	0	0	0	0	0	0	0	1	6351	639	23	2		2	GDPD3	16	30123477	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	205186	30123477	60231276	542	2129											
CORO1A	11151	broad.mit.edu	37	chr16	30198031	30198031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtggctccgaggactGcacagtcatggtgagtggtg	16	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30198031G>T	ENST00000219150.5	+	3	616	c.311G>T	c.(310-312)tGc>tTc	p.C104F	CORO1A_ENST00000570045.1_Missense_Mutation_p.C104F|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.C104F|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	104					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TCCGAGGACTGCACAGTCATG	0.612																																					p.C104F		.											.	CORO1A-226	0			c.G311T						.						41	32	35					16																	30198031		2197	4300	6497	SO:0001583	missense	11151	exon4			AGGACTGCACAGT	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.311G>T	16.37:g.30198031G>T	ENSP00000219150:p.Cys104Phe	Somatic	38	1		WXS	Illumina GAIIx	Phase_I	73	4	NM_001193333	0	0	0	0	0	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723877	0.68959	.	.	ENSG00000102879	ENST00000219150	T	0.60797	0.16	5.67	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.110740	0.64402	D	0.000003	T	0.66479	0.2793	L	0.38175	1.15	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.69824	0.926;0.966;0.926	T	0.69157	-0.5219	10	0.87932	D	0	-1.1383	15.0419	0.71796	0.0:0.1428:0.8572:0.0	.	104;138;104	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	F	104	ENSP00000219150:C104F	ENSP00000219150:C104F	C	+	2	0	CORO1A	30105532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.033000	0.41136	2.697000	0.92050	0.655000	0.94253	TGC	.		0.612	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		T	30198031	G	T	30198031	3	4	9	1	0	0	0	0	1	0	0	0	3760	1319	46	3	317	3	CORO1A	16	30198031	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	74554	30198031	60156722	543	2130											
ZNF768	79724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30535865	30535865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgccgcgtgggtccgCtggtggcggatgaggtcgga	20	12	0	1	rs565599059		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:30535865C>A	ENST00000380412.5	-	2	1771	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	ZNF768_ENST00000562803.1_Missense_Mutation_p.Q501H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	532					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGTGGGTCCGCTGGTGGCGGA	0.667																																					p.Q532H		.											.	ZNF768-90	0			c.G1596T						.						31	34	33					16																	30535865		2196	4296	6492	SO:0001583	missense	79724	exon2			GGTCCGCTGGTGG	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1596G>T	16.37:g.30535865C>A	ENSP00000369777:p.Gln532His	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	134	47	NM_024671	0	0	90	139	49	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020303	0.54576	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07688	3.17	4.81	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.201339	0.24962	N	0.034206	T	0.21841	0.0526	M	0.71036	2.16	0.36083	D	0.842928	D	0.61080	0.989	D	0.66847	0.947	T	0.03945	-1.0990	10	0.66056	D	0.02	-5.6033	7.1489	0.25599	0.0:0.8767:0.0:0.1233	.	532	Q9H5H4	ZN768_HUMAN	H	532;445	ENSP00000369777:Q532H	ENSP00000369777:Q532H	Q	-	3	2	ZNF768	30443366	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	0.594000	0.24014	2.518000	0.84900	0.511000	0.50034	CAG	.		0.667	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		A	30535865	C	A	30535865	3	1	9	1	0	0	0	0	1	0	0	0	18189	796	28	3	30	3	ZNF768	16	30535865	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	337834	30535865	59818888	544	2131											
BCKDK	10295	broad.mit.edu;bcgsc.ca	37	chr16	31121421	31121421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagctatatatccgtgccttCcagaagctgacagacttccc	8	13	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31121421C>A	ENST00000394951.1	+	6	1022	c.399C>A	c.(397-399)ttC>ttA	p.F133L	BCKDK_ENST00000219794.6_Missense_Mutation_p.F133L|BCKDK_ENST00000394950.3_Missense_Mutation_p.F133L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.F133L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	133					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TCCGTGCCTTCCAGAAGCTGA	0.582																																					p.F133L		.											.	BCKDK-765	0			c.C399A						.						111	106	108					16																	31121421		2197	4300	6497	SO:0001583	missense	10295	exon5			TGCCTTCCAGAAG	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.399C>A	16.37:g.31121421C>A	ENSP00000378405:p.Phe133Leu	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	196	8	NM_005881	0	0	134	137	3	A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555228	0.86231	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.62	5.62	0.85841	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.048335	0.85682	D	0.000000	T	0.46946	0.1419	L	0.56199	1.76	0.54753	D	0.999985	P;P	0.52692	0.955;0.955	P;P	0.52424	0.698;0.698	T	0.15752	-1.0426	10	0.20519	T	0.43	-10.0363	18.413	0.90558	0.0:1.0:0.0:0.0	.	133;133	Q96G95;O14874	.;BCKD_HUMAN	L	133	ENSP00000378405:F133L;ENSP00000219794:F133L;ENSP00000378404:F133L;ENSP00000287507:F133L	ENSP00000219794:F133L	F	+	3	2	BCKDK	31028922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.033000	0.57282	2.651000	0.90000	0.561000	0.74099	TTC	.		0.582	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		A	31121421	C	A	31121421	3	1	9	1	0	0	0	0	1	0	0	0	1362	854	30	3	413	3	BCKDK	16	31121421	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	585556	31121421	59233332	545	2132											
ITGAM	3684	ucsc.edu;bcgsc.ca	37	chr16	31336693	31336693	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaccttcttcttcccgcttGacctgtcctaccggaaggtg	8	15	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31336693G>T	ENST00000287497.8	+	20	2548	c.2473G>T	c.(2473-2475)Gac>Tac	p.D825Y	ITGAM_ENST00000544665.3_Missense_Mutation_p.D826Y			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTCCCGCTTGACCTGTCCTA	0.577																																					p.D826Y		.											.	ITGAM-226	0			c.G2476T						.						76	80	79					16																	31336693		2115	4234	6349	SO:0001583	missense	3684	exon20			CCGCTTGACCTGT	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2473G>T	16.37:g.31336693G>T	ENSP00000287497:p.Asp825Tyr	Somatic	162	2		WXS	Illumina GAIIx	Phase_I	190	85	NM_001145808	0	0	1	3	2	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311888	0.40895	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46451	0.87;0.87	5.03	5.03	0.67393	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	N	0.08118	0	0.25207	N	0.990008	P;P;P	0.43607	0.812;0.812;0.812	P;P;P	0.49477	0.612;0.612;0.612	T	0.44034	-0.9354	9	0.87932	D	0	.	17.2907	0.87156	0.0:0.0:1.0:0.0	.	231;825;825	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	Y	826;825	ENSP00000441691:D826Y;ENSP00000287497:D825Y	ENSP00000287497:D825Y	D	+	1	0	ITGAM	31244194	1.000000	0.71417	0.579000	0.28588	0.080000	0.17528	5.554000	0.67294	2.610000	0.88304	0.655000	0.94253	GAC	.		0.577	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31336693	G	T	31336693	3	4	9	1	0	0	0	0	1	0	0	0	7914	1290	45	3	2554	3	ITGAM	16	31336693	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	215272	31336693	59018060	546	2133											
ZNF267	10308	hgsc.bcm.edu	37	chr16	31927495	31927495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtggcaaagccttcaActataggtcatacctcacta	7	10	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:31927495A>G	ENST00000300870.10	+	4	2134	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	642					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCCTTCAACTATAGGTCA	0.428																																					p.N642S		.											.	ZNF267-138	0			c.A1925G						.						74	76	75					16																	31927495		2197	4300	6497	SO:0001583	missense	10308	exon4			CCTTCAACTATAG	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1925A>G	16.37:g.31927495A>G	ENSP00000300870:p.Asn642Ser	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_003414	0	0	11	11	0	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.101	0.016729	0.07959	.	.	ENSG00000185947	ENST00000300870	T	0.07216	3.21	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.05467	-0.045	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.45833	-0.9234	9	0.02654	T	1	.	5.2175	0.15350	0.9999:0.0:1.0E-4:0.0	.	642	Q14586	ZN267_HUMAN	S	642	ENSP00000300870:N642S	ENSP00000300870:N642S	N	+	2	0	ZNF267	31834996	0.000000	0.05858	0.166000	0.22797	0.148000	0.21650	-3.202000	0.00560	0.413000	0.25759	0.402000	0.26972	AAC	.		0.428	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		G	31927495	A	G	31927495	3	3	9	1	0	0	0	0	1	0	0	0	17854	43	2	4	1939	4	ZNF267	16	31927495	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	590802	31927495	58427258	547	2134											
IRX3	79191	hgsc.bcm.edu	37	chr16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggagagcgggtgcAggcgggggccgggcggtggg	25	9	0	1	rs1450355	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1		1	False		,,,				2504	1				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1	2	2		1265	2.5	1	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024336	0	0	0	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54318528	A	G	54318528	3	3	9	1	0	0	0	0	1	0	0	0	7872	188	7	4	252	4	IRX3	16	54318528	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	22391033	54318528	36036225	548	2135											
CCDC135	84229	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57732903	57732903	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcccggaccgcgtgcccctCttcctgcaccccctgaacga	9	20	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:57732903C>A	ENST00000360716.3	+	4	566	c.345C>A	c.(343-345)ctC>ctA	p.L115L	CCDC135_ENST00000394337.4_Silent_p.L115L|CCDC135_ENST00000336825.8_Silent_p.L115L|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		115					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						GCGTGCCCCTCTTCCTGCACC	0.617																																					p.L115L		.											.	CCDC135-90	0			c.C345A						.						142	139	140					16																	57732903		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon3			GCCCCTCTTCCTG																												ENST00000360716.3:c.345C>A	16.37:g.57732903C>A		Somatic	115	1		WXS	Illumina GAIIx	Phase_I	125	12	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.617	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57732903	C	A	57732903	2	1	9	1	0	0	0	0	0	0	0	1	2776	900	32	3		3	CCDC135	16	57732903	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3414375	57732903	32621850	549	2136											
CNGB1	1258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57935280	57935280	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacacatagtcgttgggCaggtagacaacagagcgaag	13	8	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:57935280C>A	ENST00000251102.8	-	29	3012	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L	CNGB1_ENST00000564448.1_Silent_p.L978L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	984					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGTCGTTGGGCAGGTAGACAA	0.557																																					p.L984L	Colon(156;1293 1853 16336 28962 38659)	.											.	CNGB1-137	0			c.G2952T						.						144	144	144					16																	57935280		2015	4178	6193	SO:0001819	synonymous_variant	1258	exon29			GTTGGGCAGGTAG	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2952G>T	16.37:g.57935280C>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	143	16	NM_001297	0	0	0	0	0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																			.		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57935280	C	A	57935280	2	1	9	1	0	0	0	0	0	0	0	1	3607	697	25	3		3	CNGB1	16	57935280	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	202377	57935280	32419473	550	2137											
LRRC29	26231	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	67241849	67241849	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggctgcctgggcccAgcccttgtcactgagtcggc	15	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:67241849A>T	ENST00000409037.1	-	3	1326	c.430T>A	c.(430-432)Tgg>Agg	p.W144R	LRRC29_ENST00000409509.1_Missense_Mutation_p.W144R|LRRC29_ENST00000341546.3_Missense_Mutation_p.W144R|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_Missense_Mutation_p.W144R			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	144	F-box.									autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCTGGGCCCAGCCCTTGTCA	0.612																																					p.W144R		.											.	LRRC29-226	0			c.T430A						.						34	35	35					16																	67241849		2198	4300	6498	SO:0001583	missense	26231	exon5			GGGCCCAGCCCTT	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"F-box and leucine-rich repeat protein 9"	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.430T>A	16.37:g.67241849A>T	ENSP00000387318:p.Trp144Arg	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	108	15	NM_001004055	0	0	4	4	0	B2RE92|Q9UKA0	Missense_Mutation	SNP	ENST00000409037.1	37	CCDS32465.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943663	0.73672	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000433915;ENST00000424285	T;T;T;T;T;T	0.02345	4.33;4.33;4.33;4.33;4.33;4.33	5.57	5.57	0.84162	.	0.493065	0.21084	N	0.080431	T	0.09202	0.0227	L	0.41236	1.265	0.26917	N	0.966755	D	0.71674	0.998	D	0.71184	0.972	T	0.07731	-1.0757	10	0.62326	D	0.03	.	12.1183	0.53878	1.0:0.0:0.0:0.0	.	144	Q8WV35	LRC29_HUMAN	R	144;144;144;144;96;144	ENSP00000386622:W144R;ENSP00000377561:W144R;ENSP00000387318:W144R;ENSP00000344364:W144R;ENSP00000413129:W96R;ENSP00000409459:W144R	ENSP00000344364:W144R	W	-	1	0	LRRC29	65799350	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.348000	0.52209	2.115000	0.64714	0.533000	0.62120	TGG	.		0.612	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		T	67241849	A	T	67241849	3	4	9	1	0	0	0	0	1	0	0	0	9018	188	7	5	249	5	LRRC29	16	67241849	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	9306569	67241849	23112904	551	2138											
KCTD19	146212	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	67333415	67333415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggtttcacggactccagGctggctgtgcgggccccctt	14	14	1	0	rs369820775		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:67333415G>T	ENST00000304372.5	-	6	892	c.837C>A	c.(835-837)agC>agA	p.S279R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	279					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGGACTCCAGGCTGGCTGTGC	0.647																																					p.S279R		.											.	KCTD19-69	0			c.C837A						.						77	86	84					16																	67333415		1945	4134	6079	SO:0001583	missense	146212	exon6			CTCCAGGCTGGCT	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.837C>A	16.37:g.67333415G>T	ENSP00000305702:p.Ser279Arg	Somatic	57	1		WXS	Illumina GAIIx	Phase_I	86	9	NM_001100915	0	0	0	0	0	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437342	0.12104	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	1.48	0.22813	.	0.544274	0.19304	N	0.117577	T	0.25457	0.0619	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.15066	T	0.55	-10.405	4.4347	0.11545	0.2672:0.1655:0.5673:0.0	.	279	Q17RG1	KCD19_HUMAN	R	279	ENSP00000305702:S279R	ENSP00000305702:S279R	S	-	3	2	KCTD19	65890916	0.007000	0.16637	0.160000	0.22671	0.011000	0.07611	0.460000	0.21924	0.402000	0.25451	0.655000	0.94253	AGC	.		0.647	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		T	67333415	G	T	67333415	3	4	9	1	0	0	0	0	1	0	0	0	8133	1194	42	3	1987	3	KCTD19	16	67333415	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	91566	67333415	23021338	552	2139											
VAC14	55697	bcgsc.ca	37	chr16	70726795	70726795	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggaaggcgctgctctgCggcaggagcatgagcaggcc	17	11	1	1	rs2278983	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:70726795C>A	ENST00000261776.5	-	18	2375	c.2115G>T	c.(2113-2115)ccG>ccT	p.P705P	VAC14_ENST00000571759.1_5'Flank|VAC14_ENST00000536184.2_Silent_p.P137P	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	705					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGCTGCTCTGCGGCAGGAGCA	0.667													C|||	1216	0.242812	0.028	0.3401	5008	,	,		18619	0.1657		0.4901	False		,,,				2504	0.2894				p.P705P		.											.	VAC14-227	0			c.G2115T						.	C		412,3980	188.1+/-214.6	22,368,1806	41	42	42		2115	-3.3	1	16	dbSNP_100	42	4024,4576	534.8+/-382.7	922,2180,1198	no	coding-synonymous	VAC14	NM_018052.3		944,2548,3004	AA,AC,CC		46.7907,9.3807,34.1441		705/783	70726795	4436,8556	2196	4300	6496	SO:0001819	synonymous_variant	55697	exon18			GCTCTGCGGCAGG	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2115G>T	16.37:g.70726795C>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	133	5	NM_018052	0	0	76	76	0	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	CCDS10896.1																																																																																			A|0.318;C|0.681;T|0.000		0.667	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		A	70726795	C	A	70726795	2	1	9	1	0	0	0	0	0	0	0	1	17160	755	27	2		2	VAC14	16	70726795	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3393380	70726795	19627958	553	2140											
HYDIN	54768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	71209570	71209570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcactccaggagccactttGtggccaatatctttggggct	12	11	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:71209570G>T	ENST00000393567.2	-	5	606	c.456C>A	c.(454-456)caC>caA	p.H152Q	HYDIN_ENST00000448089.2_Missense_Mutation_p.H152Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.H152Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.H179Q|HYDIN_ENST00000541601.1_Missense_Mutation_p.H169Q|HYDIN_ENST00000321489.5_Missense_Mutation_p.H152Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.H152Q|HYDIN_ENST00000288168.10_Missense_Mutation_p.H169Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	152					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)				GAGCCACTTTGTGGCCAATAT	0.443																																					p.H179Q		.											.	HYDIN-92	0			c.C537A						.						125	127	126					16																	71209570		2198	4300	6498	SO:0001583	missense	54768	exon5			CACTTTGTGGCCA	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.456C>A	16.37:g.71209570G>T	ENSP00000377197:p.His152Gln	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	124	8	NM_001198542	0	0	0	1	1	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	2.484	-0.318958	0.05386	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.13657	5.64;3.81;3.81;3.81;3.8;3.8;3.45;2.57	5.07	3.08	0.35506	.	0.272871	0.18561	U	0.137630	T	0.16981	0.0408	L	0.53249	1.67	0.31624	N	0.649952	B;B;B;B;P	0.47302	0.014;0.014;0.014;0.023;0.893	B;B;B;B;P	0.48454	0.02;0.02;0.039;0.018;0.578	T	0.01956	-1.1240	10	0.14252	T	0.57	.	10.8147	0.46569	0.1768:0.0:0.8232:0.0	.	179;169;169;152;152	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	Q	152;152;152;152;152;179;169;169;152	ENSP00000377197:H152Q;ENSP00000398544:H152Q;ENSP00000394826:H152Q;ENSP00000314736:H152Q;ENSP00000444970:H179Q;ENSP00000437341:H169Q;ENSP00000288168:H169Q;ENSP00000377181:H152Q	ENSP00000288168:H169Q	H	-	3	2	HYDIN	69767071	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	1.737000	0.38197	2.337000	0.79520	0.579000	0.79373	CAC	.		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71209570	G	T	71209570	3	4	9	1	0	0	0	0	1	0	0	0	7494	1368	48	3	15246	3	HYDIN	16	71209570	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	482775	71209570	19145183	554	2141											
RFWD3	55159	bcgsc.ca	37	chr16	74670456	74670456	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaattctgactttgatgtGacgtaagtttttgcaagtcc	9	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:74670456G>T	ENST00000361070.4	-	8	1311	c.1214C>A	c.(1213-1215)tCa>tAa	p.S405*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.S405*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	405					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						ACTTTGATGTGACGTAAGTTT	0.418																																					p.S405X		.											.	RFWD3-522	0			c.C1214A						.						55	58	57					16																	74670456		2198	4300	6498	SO:0001587	stop_gained	55159	exon8			TGATGTGACGTAA	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.1214C>A	16.37:g.74670456G>T	ENSP00000354361:p.Ser405*	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	75	16	NM_018124	0	0	7	8	1	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Nonsense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210847	0.79240	.	.	ENSG00000168411	ENST00000361070	.	.	.	5.55	-0.151	0.13411	.	0.643608	0.16626	N	0.206260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	0.182	5.468	0.16654	0.0:0.2552:0.2631:0.4816	.	.	.	.	X	405	.	ENSP00000354361:S405X	S	-	2	0	RFWD3	73227957	0.991000	0.36638	0.000000	0.03702	0.003000	0.03518	1.276000	0.33156	0.000000	0.14550	-0.262000	0.10625	TCA	.		0.418	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		T	74670456	G	T	74670456	4	4	9	1	0	0	0	0	0	1	0	0	13306	1294	45	3	1134	3	RFWD3	16	74670456	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3460886	74670456	15684297	555	2142											
PKD1L2	114780	bcgsc.ca	37	chr16	81249935	81249935	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgatgtggccgcaggtGtcaggggcagcggcggcctg	18	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:81249935G>T	ENST00000525539.1	-	0	377				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)	p.D126D(2)		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						GGCCGCAGGTGTCAGGGGCAG	0.657																																					p.D126E		.											.	PKD1L2-92	2	Substitution - coding silent(2)	urinary_tract(2)	c.C378A						.						57	72	67					16																	81249935		2066	4208	6274			114780	exon2			GCAGGTGTCAGGG	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.81249935G>T		Somatic	126	3		WXS	Illumina GAIIx	Phase_I	166	67	NM_001076780	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.	.	.	.	.	.	.	.	.	.	G	10.88	1.475336	0.26511	.	.	ENSG00000166473	ENST00000337114	T	0.13420	2.59	4.56	1.34	0.21922	C-type lectin fold (1);C-type lectin (3);	2.262350	0.01917	N	0.040245	T	0.05364	0.0142	.	.	.	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.12837	0.003;0.008	T	0.32161	-0.9917	9	0.02654	T	1	-0.0899	3.658	0.08228	0.0778:0.2543:0.4037:0.2642	.	126;126	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	E	126	ENSP00000337397:D126E	ENSP00000337397:D126E	D	-	3	2	PKD1L2	79807436	0.000000	0.05858	0.010000	0.14722	0.033000	0.12548	0.544000	0.23253	0.145000	0.18977	0.650000	0.86243	GAC	.		0.657	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81249935	G	T	81249935	1	4	9	0	1	0	0	0	0	0	0	0	12004	1368	48	3		3	PKD1L2	16	81249935	RNA	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6579479	81249935	9104818	556	2143											
FOXC2	2303	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	86601196	86601196	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgctcatcaccatggccatCcagaacgcgcccgagaagaa	10	15	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:86601196C>A	ENST00000320354.4	+	1	340	c.255C>A	c.(253-255)atC>atA	p.I85I	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	85					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCATGGCCATCCAGAACGCGC	0.617									Late-onset Hereditary Lymphedema																												p.I85I		.											.	FOXC2-226	0			c.C255A						.						98	100	100					16																	86601196		2198	4300	6498	SO:0001819	synonymous_variant	2303	exon1	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	GGCCATCCAGAAC	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.255C>A	16.37:g.86601196C>A		Somatic	312	1		WXS	Illumina GAIIx	Phase_I	415	124	NM_005251	0	0	1	1	0	C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	CCDS10958.1																																																																																			.		0.617	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		A	86601196	C	A	86601196	2	1	9	1	0	0	0	0	0	0	0	1	6017	845	30	3		3	FOXC2	16	86601196	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5351261	86601196	3753557	557	2144											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	11	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	9	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-OR-A5JA-01A-11D-A29I-10	1998500	88599696	1755057	558	2145	17	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	18	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	9	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JA-01A-11D-A29I-10	1	88599697	1755056	559	2146	17	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-													ggagaggccagagcggagccTctggcccagaatggaggcag					rs67322929|rs149145771	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1	1	1					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	12	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599701	T	-	88599701	7	5	9	1	0	1	0	1	0	0	0	0	17705	1538	54	0	1373	0	ZFPM1	16	88599701	Frame_Shift_Del	DEL	T	TCGA-OR-A5JA-01A-11D-A29I-10	4	88599701	1755052	560	2147	17	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-													agaggccagagcggagcctcTggcccagaatggaggcagca					rs149145771|rs67873604	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	12	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	TGG	-	88599703	7	5	9	1	0	1	0	1	0	0	0	0	17705	1580	55	0	1375	0	ZFPM1	16	88599703	In_Frame_Del	DEL	TGG	TCGA-OR-A5JA-01A-11D-A29I-10	2	88599703	1755050	561	2148	17	4									
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	9	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		4693342	76501868	562	2149											
TP53	7157	hgsc.bcm.edu	37	chr17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatctggacctgggtcttCagtgaaccattgttcaatat	8	9	5	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*	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	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (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.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCTGGGTCTTCAGTGAACCAT	0.597		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.E56X	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(1)	c.G166T						.						158	159	159					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	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;	GGTCTTCAGTGAA	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.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	Somatic	34	1		WXS	Illumina GAIIx	Phase_I	23	9	NM_000546	0	0	10	10	0	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579521	C	A	7579521	4	1	9	1	0	0	0	0	0	1	0	0	16429	835	29	3	1136	3	TP53	17	7579521	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2886179	7579521	73615689	563	2150											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	7579722	7579722	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaacgttgttttcaggaagtCtgaaagacaagagcagaaag	12	5	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:7579722C>A	ENST00000269305.4	-	3	264		c.e3-1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(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)	TTCAGGAAGTCTGAAAGACAA	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	10	Whole gene deletion(8)|Complex - frameshift(1)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	c.75-1G>T						.						42	42	42					17																	7579722		2203	4300	6503	SO:0001630	splice_region_variant	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;	GGAAGTCTGAAAG	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.75-1G>T	17.37:g.7579722C>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	57	21	NM_000546	0	0	0	4	4	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243908	0.79912	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0486	0.53493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520447	0.984000	0.35163	0.884000	0.34674	0.984000	0.73092	3.386000	0.52492	2.573000	0.86826	0.561000	0.74099	.	.		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579722	C	A	7579722	5	1	9	1	0	0	0	0	0	0	1	0	16429	927	32	3	1232	3	TP53	17	7579722	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	201	7579722	73615488	564	2151											
RICH2	9912	hgsc.bcm.edu;broad.mit.edu	37	chr17	12853032	12853032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaactctatgatgagtGgatccaggcttccaagtgag	11	8	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:12853032G>T	ENST00000379672.5	+	12	1340	c.1040G>T	c.(1039-1041)tGg>tTg	p.W347L	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.W347L|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.W347L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	347	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TATGATGAGTGGATCCAGGCT	0.408																																					p.W347L		.											.	ARHGAP44-90	0			c.G1040T						.						112	103	106					17																	12853032		1860	4116	5976	SO:0001583	missense	9912	exon12			ATGAGTGGATCCA		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.1040G>T	17.37:g.12853032G>T	ENSP00000368994:p.Trp347Leu	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	94	7	NM_014859	0	0	0	0	0	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997615	0.54147	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000538915	T;T	0.14266	2.52;2.52	6.15	6.15	0.99193	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061467	0.64402	D	0.000001	T	0.33469	0.0864	L	0.47716	1.5	0.80722	D	1	P;D;P	0.76494	0.698;0.999;0.744	B;D;P	0.78314	0.405;0.991;0.582	T	0.00288	-1.1845	10	0.87932	D	0	.	18.3325	0.90274	0.0:0.0:1.0:0.0	.	347;9;347	A6NCP5;F5H6L3;Q17R89	.;.;RHG44_HUMAN	L	347;9;347;70	ENSP00000368994:W347L;ENSP00000342566:W347L	ENSP00000342566:W347L	W	+	2	0	ARHGAP44	12793757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.932000	0.99384	0.643000	0.83706	TGG	.		0.408	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		T	12853032	G	T	12853032	3	4	9	1	0	0	0	0	1	0	0	0	13402	1357	47	3	1086	3	RICH2	17	12853032	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5273310	12853032	68342178	565	2152											
MAP2K3	5606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	21215491	21215491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggttcccttacgagtcctGggggaccccgttccagcagc	13	15	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:21215491G>T	ENST00000342679.4	+	10	1061	c.812G>T	c.(811-813)tGg>tTg	p.W271L	MAP2K3_ENST00000316920.6_Missense_Mutation_p.W242L|MAP2K3_ENST00000361818.5_Missense_Mutation_p.W242L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TACGAGTCCTGGGGGACCCCG	0.652																																					p.W271L		.											.	MAP2K3-790	0			c.G812T						.						58	57	57					17																	21215491		2203	4300	6503	SO:0001583	missense	5606	exon10			AGTCCTGGGGGAC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.812G>T	17.37:g.21215491G>T	ENSP00000345083:p.Trp271Leu	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	81	8	NM_145109	0	0	48	50	2	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603894	0.96626	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.63913	-0.07;-0.07	5.84	5.84	0.93424	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	0.63319	0.2501	N	0.03268	-0.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74699	-0.3577	10	0.87932	D	0	-25.1256	20.1306	0.97998	0.0:0.0:1.0:0.0	.	271	P46734	MP2K3_HUMAN	L	271;242;242;275	ENSP00000345083:W271L;ENSP00000355081:W242L	ENSP00000319139:W275L	W	+	2	0	MAP2K3	21156084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.690000	0.98676	2.751000	0.94390	0.655000	0.94253	TGG	.		0.652	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		T	21215491	G	T	21215491	3	4	9	1	0	0	0	0	1	0	0	0	9276	1357	47	3	850	3	MAP2K3	17	21215491	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8362459	21215491	59979719	566	2153											
SARM1	7448	hgsc.bcm.edu	37	chr17	26699121	26699121	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgtcgggcccacggcGgggcgccgagcggctggcgg	20	15	0	0	rs7212814		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000457710.3_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1	1	1	5008	,	,		9002	1		1	False		,,,				2504	1				p.R23P		.											.	.	0			c.G68C						.						2	2	2					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015077	0	0	0	2	2	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699121	G	C	26699121	1	2	9	0	1	0	0	0	0	0	0	0	13887	1116	39	2		2	SARM1	17	26699121	5'Flank	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5483630	26699121	54496089	567	2154											
BLMH	642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	28601155	28601155	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataatttttatctttgtctcGatattcccaggtgaatgtct	6	7	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:28601155G>A	ENST00000261714.6	-	7	880	c.706C>T	c.(706-708)Cga>Tga	p.R236*	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Nonsense_Mutation_p.R149*	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	236					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TCTTTGTCTCGATATTCCCAG	0.448																																					p.R236X	Pancreas(127;628 1772 12912 33293 36203)	.											.	BLMH-91	0			c.C706T						.						85	82	83					17																	28601155		2203	4300	6503	SO:0001587	stop_gained	642	exon7			TGTCTCGATATTC	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.706C>T	17.37:g.28601155G>A	ENSP00000261714:p.Arg236*	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	55	12	NM_000386	0	0	9	9	0	B2R796|Q53F86|Q9UER9	Nonsense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553903	0.96501	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	.	.	.	5.91	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7216	15.0025	0.71486	0.0:0.0:0.8572:0.1428	.	.	.	.	X	236;149	.	ENSP00000261714:R236X	R	-	1	2	BLMH	25625281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.963000	0.29293	2.802000	0.96397	0.655000	0.94253	CGA	.		0.448	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		A	28601155	G	A	28601155	4	1	9	1	0	0	0	0	0	1	0	0	1448	1066	37	1	685	1	BLMH	17	28601155	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1902034	28601155	52594055	568	2155											
RAB11FIP4	84440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	29848225	29848225	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgacgacctcagacctttCtacacactccaccacctcgc	4	19	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:29848225C>A	ENST00000325874.8	+	5	834	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S100Y	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	202	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCAGACCTTTCTACACACTCC	0.602																																					p.S202Y		.											.	RAB11FIP4-91	0			c.C605A						.						180	160	167					17																	29848225		2203	4300	6503	SO:0001583	missense	84440	exon5			ACCTTTCTACACA	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.605C>A	17.37:g.29848225C>A	ENSP00000312837:p.Ser202Tyr	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	112	12	NM_032932	0	0	1	1	0	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902696	0.17760	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.51071	0.72	5.74	5.74	0.90152	.	0.110845	0.64402	D	0.000005	T	0.55146	0.1902	L	0.54323	1.7	0.58432	D	0.999999	P;D	0.56521	0.928;0.976	P;P	0.51229	0.663;0.656	T	0.51309	-0.8722	9	.	.	.	-26.7677	17.4128	0.87491	0.0:1.0:0.0:0.0	.	100;202	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	Y	202	ENSP00000312837:S202Y	.	S	+	2	0	RAB11FIP4	26872345	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	4.854000	0.62918	2.707000	0.92482	0.655000	0.94253	TCT	.		0.602	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		A	29848225	C	A	29848225	3	1	9	1	0	0	0	0	1	0	0	0	12941	913	32	3	623	3	RAB11FIP4	17	29848225	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1247070	29848225	51346985	569	2156											
RAB11FIP4	84440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29848320	29848320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccccagcagcccttgcCccgatgatgagaccaggacc	11	17	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:29848320C>A	ENST00000325874.8	+	5	929	c.700C>A	c.(700-702)Ccc>Acc	p.P234T	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.P132T	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	234	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAGCCCTTGCCCCGATGATGA	0.572																																					p.P234T		.											.	RAB11FIP4-91	0			c.C700A						.						140	106	117					17																	29848320		2203	4300	6503	SO:0001583	missense	84440	exon5			CCTTGCCCCGATG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.700C>A	17.37:g.29848320C>A	ENSP00000312837:p.Pro234Thr	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	177	79	NM_032932	0	0	0	1	1	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977463	0.92982	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.50277	0.75	5.89	5.89	0.94794	.	0.050805	0.85682	D	0.000000	T	0.67961	0.2949	M	0.67953	2.075	0.80722	D	1	P;D	0.89917	0.941;1.0	D;D	0.87578	0.917;0.998	T	0.65327	-0.6195	9	.	.	.	-27.6976	17.7515	0.88435	0.0:1.0:0.0:0.0	.	132;234	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	T	234	ENSP00000312837:P234T	.	P	+	1	0	RAB11FIP4	26872440	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	5.248000	0.65421	2.783000	0.95769	0.655000	0.94253	CCC	.		0.572	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		A	29848320	C	A	29848320	3	1	9	1	0	0	0	0	1	0	0	0	12941	623	22	3	718	3	RAB11FIP4	17	29848320	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	95	29848320	51346890	570	2157											
GAS2L2	246176	broad.mit.edu;ucsc.edu	37	chr17	34072812	34072812	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactctctggcctctgccatGacctggatgtccagctgctg	11	14	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:34072812G>T	ENST00000254466.6	-	6	1731	c.1704C>A	c.(1702-1704)gtC>gtA	p.V568V	GAS2L2_ENST00000587565.1_Silent_p.V552V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	568					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCTGCCATGACCTGGATGT	0.632																																					p.V568V		.											.	GAS2L2-227	0			c.C1704A						.						53	52	52					17																	34072812		2203	4300	6503	SO:0001819	synonymous_variant	246176	exon6			TGCCATGACCTGG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1704C>A	17.37:g.34072812G>T		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	73	7	NM_139285	0	0	0	0	0	Q8NHY4	Silent	SNP	ENST00000254466.6	37	CCDS11298.1																																																																																			.		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		T	34072812	G	T	34072812	2	4	9	1	0	0	0	0	0	0	0	1	6272	1277	45	3		3	GAS2L2	17	34072812	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4224492	34072812	47122398	571	2158											
ACACA	31	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	35468526	35468526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgcatggttttcaccagatCctttctgcggaatttgattt	8	9	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:35468526C>A	ENST00000394406.2	-	52	6584	c.6394G>T	c.(6394-6396)Gat>Tat	p.D2132Y	ACACA_ENST00000360679.3_Missense_Mutation_p.D2074Y|ACACA_ENST00000335166.5_Missense_Mutation_p.D2054Y|ACACA_ENST00000361253.5_Missense_Mutation_p.D258Y|ACACA_ENST00000353139.5_Missense_Mutation_p.D2169Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2132	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCACCAGATCCTTTCTGCGG	0.458																																					p.D2169Y	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA-154	0			c.G6505T						.						169	146	154					17																	35468526		2203	4300	6503	SO:0001583	missense	31	exon52			CCAGATCCTTTCT	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6394G>T	17.37:g.35468526C>A	ENSP00000377928:p.Asp2132Tyr	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	65	8	NM_198834	0	0	15	15	0	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201818	0.79015	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.67	5.67	0.87782	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.958;0.978;0.998;0.988;0.98	T	0.72640	-0.4232	10	0.87932	D	0	-19.1024	19.7848	0.96432	0.0:1.0:0.0:0.0	.	170;831;2169;2132;2074	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	Y	2169;2074;2132;2156;2054;831;258	ENSP00000344789:D2169Y;ENSP00000353898:D2074Y;ENSP00000377928:D2132Y;ENSP00000335323:D2054Y;ENSP00000354565:D258Y	ENSP00000335323:D2054Y	D	-	1	0	ACACA	32542639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	GAT	.		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		A	35468526	C	A	35468526	3	1	9	1	0	0	0	0	1	0	0	0	106	855	30	3	666	3	ACACA	17	35468526	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1395714	35468526	45726684	572	2159											
KRT39	390792	bcgsc.ca	37	chr17	39116728	39116728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcgagcctctgtctccGttaggatgcactcttgggaa	12	10	3	0	rs17843021	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39116728G>A	ENST00000355612.2	-	6	1057	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	341	Coil 2.|Rod.		T -> M (in dbSNP:rs17843021).			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTCTGTCTCCGTTAGGATGCA	0.493													G|||	585	0.116813	0.1452	0.0548	5008	,	,		18259	0.1399		0.1322	False		,,,				2504	0.0828				p.T341M		.											.	.	0			c.C1022T						.	G	MET/THR	630,3776	274.0+/-271.7	53,524,1626	137	135	135		1022	-1.1	0	17	dbSNP_123	135	1136,7456	235.1+/-267.8	71,994,3231	yes	missense	KRT39	NM_213656.3	81	124,1518,4857	AA,AG,GG		13.2216,14.2987,13.5867	possibly-damaging	341/492	39116728	1766,11232	2203	4296	6499	SO:0001583	missense	390792	exon6			GTCTCCGTTAGGA	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1022C>T	17.37:g.39116728G>A	ENSP00000347823:p.Thr341Met	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	83	5	NM_213656	0	0	0	0	0	B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	CCDS11382.1	273	0.125	69	0.1402439024390244	29	0.08011049723756906	75	0.13111888111888112	100	0.13192612137203166	G	6.273	0.418486	0.11870	0.142987	0.132216	ENSG00000196859	ENST00000355612	D	0.89050	-2.46	5.81	-1.12	0.09808	Filament (1);	1.437790	0.04585	N	0.395707	T	0.03651	0.0104	M	0.64170	1.965	0.80722	P	0.0	P	0.41947	0.766	B	0.37239	0.244	T	0.51655	-0.8678	9	0.62326	D	0.03	.	4.6774	0.12719	0.2521:0.0:0.3101:0.4378	rs17843021;rs17843021	341	Q6A163	K1C39_HUMAN	M	341	ENSP00000347823:T341M	ENSP00000347823:T341M	T	-	2	0	KRT39	36370254	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.117000	0.10708	-0.383000	0.07858	-0.218000	0.12543	ACG	G|0.868;A|0.132		0.493	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		A	39116728	G	A	39116728	3	1	9	1	0	0	0	0	1	0	0	0	8503	1145	40	1	461	1	KRT39	17	39116728	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3648202	39116728	42078482	573	2160											
KRT40	125115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39140279	39140279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgctagtgaacacccCatcctcacaccaggcacagt	6	16	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39140279C>A	ENST00000398486.2	-	3	407	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	KRT40_ENST00000377755.4_Missense_Mutation_p.G83W	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	83	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGAACACCCCATCCTCACAC	0.557																																					p.G83W		.											.	.	0			c.G247T						.						166	167	167					17																	39140279		2199	4286	6485	SO:0001583	missense	125115	exon3			ACACCCCATCCTC	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.247G>T	17.37:g.39140279C>A	ENSP00000381500:p.Gly83Trp	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	125	54	NM_182497	0	0	0	0	0	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416213	0.42918	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.84070	-1.8;-1.8	5.21	3.08	0.35506	.	0.000000	0.34268	N	0.004110	D	0.83041	0.5168	M	0.67953	2.075	0.33309	D	0.565851	P	0.48640	0.913	P	0.49829	0.623	D	0.86691	0.1923	10	0.72032	D	0.01	.	7.3299	0.26575	0.1668:0.7476:0.0:0.0856	.	83	Q6A162	K1C40_HUMAN	W	83	ENSP00000366984:G83W;ENSP00000381500:G83W	ENSP00000366984:G83W	G	-	1	0	KRT40	36393805	0.397000	0.25270	0.927000	0.36925	0.957000	0.61999	1.905000	0.39878	1.334000	0.45468	0.591000	0.81541	GGG	.		0.557	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		A	39140279	C	A	39140279	3	1	9	1	0	0	0	0	1	0	0	0	8505	594	21	3	1076	3	KRT40	17	39140279	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	23551	39140279	42054931	574	2161											
KRTAP1-3	81850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39190809	39190809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatagccaatgccacCaccaatgccacagccagttc	7	17	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39190809C>A	ENST00000344363.5	-	1	298	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	99						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCAATGCCACCACCAATGCCA	0.652																																					p.G89C		.											.	.	0			c.G265T						.						24	28	26					17																	39190809		2000	4167	6167	SO:0001583	missense	81850	exon1			TGCCACCACCAAT	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.265G>T	17.37:g.39190809C>A	ENSP00000344420:p.Gly89Cys	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	91	27	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146343	0.21288	.	.	ENSG00000221880	ENST00000344363	T	0.36157	1.27	3.15	-6.31	0.02001	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.23976	-1.0173	8	0.31617	T	0.26	.	6.6917	0.23177	0.6555:0.2358:0.0:0.1087	.	99	Q8IUG1	KRA13_HUMAN	C	89	ENSP00000344420:G89C	ENSP00000344420:G89C	G	-	1	0	KRTAP1-3	36444335	0.670000	0.27512	0.000000	0.03702	0.236000	0.25371	1.202000	0.32271	-1.097000	0.03042	0.467000	0.42956	GGT	.		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			A	39190809	C	A	39190809	3	1	9	1	0	0	0	0	1	0	0	0	8530	594	21	3	242	3	KRTAP1-3	17	39190809	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	50530	39190809	42004401	575	2162											
KRTAP4-3	85290	bcgsc.ca	37	chr17	39324355	39324355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggggcggcagcAgctctcctggccgagacctt	15	14	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39324355A>T	ENST00000391356.2	-	1	69	c.70T>A	c.(70-72)Tgc>Agc	p.C24S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	24					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)			GGGCGGCAGCAGCTCTCCTGG	0.637																																					p.C24S		.											.	KRTAP4-3-22	0			c.T70A						.						27	31	30					17																	39324355		2196	4298	6494	SO:0001583	missense	85290	exon1			GGCAGCAGCTCTC	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.70T>A	17.37:g.39324355A>T	ENSP00000375151:p.Cys24Ser	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	164	22	NM_033187	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.996334	0.35226	.	.	ENSG00000196156	ENST00000391356	T	0.04406	3.63	5.15	5.15	0.70609	.	.	.	.	.	T	0.22627	0.0546	M	0.82323	2.585	0.43703	D	0.996168	D	0.89917	1.0	D	0.83275	0.996	T	0.00724	-1.1593	9	0.49607	T	0.09	.	13.2133	0.59839	1.0:0.0:0.0:0.0	.	24	Q9BYR4	KRA43_HUMAN	S	24	ENSP00000375151:C24S	ENSP00000375151:C24S	C	-	1	0	KRTAP4-3	36577881	0.767000	0.28508	0.753000	0.31225	0.100000	0.18952	1.312000	0.33574	2.039000	0.60335	0.533000	0.62120	TGC	.		0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39324355	A	T	39324355	3	4	9	1	0	0	0	0	1	0	0	0	8580	188	7	5	521	5	KRTAP4-3	17	39324355	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	133546	39324355	41870855	576	2163											
KRT33B	3884	broad.mit.edu	37	chr17	39520197	39520197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtggtggcgcaggggttgGagggcagcctgggatgcaga	22	6	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:39520197G>T	ENST00000251646.3	-	7	1155	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	369	Tail.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCAGGGGTTGGAGGGCAGCCT	0.527																																					p.S369Y		.											.	KRT33B-90	0			c.C1106A						.						117	120	119					17																	39520197		2190	4300	6490	SO:0001583	missense	3884	exon7			GGGTTGGAGGGCA	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1106C>A	17.37:g.39520197G>T	ENSP00000251646:p.Ser369Tyr	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	103	3	NM_002279	0	0	0	0	0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	8.490	0.861790	0.17178	.	.	ENSG00000131738	ENST00000251646	D	0.82984	-1.67	5.13	3.12	0.35913	.	0.521615	0.19242	N	0.119153	T	0.77519	0.4142	L	0.46157	1.445	0.23903	N	0.996518	B	0.02656	0.0	B	0.04013	0.001	T	0.69533	-0.5120	10	0.66056	D	0.02	.	12.0327	0.53406	0.0:0.646:0.354:0.0	.	369	Q14525	KT33B_HUMAN	Y	369	ENSP00000251646:S369Y	ENSP00000251646:S369Y	S	-	2	0	KRT33B	36773723	0.998000	0.40836	1.000000	0.80357	0.204000	0.24138	0.727000	0.25999	0.841000	0.35020	-0.171000	0.13296	TCC	.		0.527	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		T	39520197	G	T	39520197	3	4	9	1	0	0	0	0	1	0	0	0	8497	1174	41	3	112	3	KRT33B	17	39520197	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	195842	39520197	41675013	577	2164											
RND2	8153	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	41180515	41180515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcccggtcctctgagCgcagcgtcagggatgtcttc	12	15	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:41180515C>A	ENST00000587250.2	+	5	609	c.502C>A	c.(502-504)Cgc>Agc	p.R168S	CTD-3199J23.4_ENST00000225973.5_lincRNA|RND2_ENST00000544533.1_Missense_Mutation_p.R169S			P52198	RND2_HUMAN	Rho family GTPase 2	168					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTCCTCTGAGCGCAGCGTCAG	0.607																																					p.R168S		.											.	RND2-227	0			c.C502A						.						74	69	71					17																	41180515		2203	4300	6503	SO:0001583	missense	8153	exon5			TCTGAGCGCAGCG	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.502C>A	17.37:g.41180515C>A	ENSP00000466680:p.Arg168Ser	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	107	9	NM_005440	0	0	5	5	0	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	37	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801056	0.50315	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69040	-0.37	5.55	4.57	0.56435	.	0.157696	0.64402	D	0.000019	T	0.53642	0.1809	N	0.25485	0.75	0.31607	N	0.652036	B	0.23128	0.08	B	0.28991	0.097	T	0.61118	-0.7127	10	0.72032	D	0.01	.	9.0437	0.36333	0.3979:0.4701:0.132:0.0	.	168	P52198	RND2_HUMAN	S	169;168	ENSP00000439328:R169S	ENSP00000225973:R168S	R	+	1	0	RND2	38434041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.563000	0.60823	1.559000	0.49555	0.655000	0.94253	CGC	.		0.607	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		A	41180515	C	A	41180515	3	1	9	1	0	0	0	0	1	0	0	0	13465	768	27	2	520	2	RND2	17	41180515	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1660318	41180515	40014695	578	2165											
FMNL1	752	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	43322367	43322367	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttggagatgaagtcgactGatcgcaagcagacgctgctg	14	8	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:43322367G>T	ENST00000331495.3	+	21	2956	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.D874Y|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.D452Y|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	874	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						GAAGTCGACTGATCGCAAGCA	0.602																																					p.D874Y	GBM(164;1247 1997 8702 11086 51972)	.											.	FMNL1-91	0			c.G2620T						.						95	88	91					17																	43322367		2203	4300	6503	SO:0001583	missense	752	exon21			TCGACTGATCGCA	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.2620G>T	17.37:g.43322367G>T	ENSP00000329219:p.Asp874Tyr	Somatic	105	2		WXS	Illumina GAIIx	Phase_I	97	41	NM_005892	0	0	1	2	1	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637432	0.87760	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.69685	-0.42;-0.42	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89430	0.3716	10	0.87932	D	0	.	15.1166	0.72407	0.0:0.0:1.0:0.0	.	874	O95466	FMNL_HUMAN	Y	874;874;529	ENSP00000327442:D874Y;ENSP00000329219:D874Y	ENSP00000327442:D874Y	D	+	1	0	FMNL1	40678150	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	9.585000	0.98223	2.511000	0.84671	0.455000	0.32223	GAT	.		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43322367	G	T	43322367	3	4	9	1	0	0	0	0	1	0	0	0	5973	1290	45	3	2702	3	FMNL1	17	43322367	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2141852	43322367	37872843	579	2166											
NPEPPS	9520	broad.mit.edu;bcgsc.ca	37	chr17	45668234	45668234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgacgccttagataacaGccatcctattgaagtgagcc	9	11	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:45668234G>T	ENST00000322157.4	+	10	1484	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	NPEPPS_ENST00000544660.1_Missense_Mutation_p.S336I|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S412I	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	416					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTAGATAACAGCCATCCTATT	0.408																																					p.S416I		.											.	NPEPPS-90	0			c.G1247T						.						147	101	115					17																	45668234		1891	4099	5990	SO:0001583	missense	9520	exon10			ATAACAGCCATCC	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.1247G>T	17.37:g.45668234G>T	ENSP00000320324:p.Ser416Ile	Somatic	287	0		WXS	Illumina GAIIx	Phase_I	217	17	NM_006310	0	0	39	45	6	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961238	0.92791	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.991	T	0.13124	-1.0521	10	0.87932	D	0	.	19.5562	0.95349	0.0:0.0:1.0:0.0	.	416;412;416	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	I	412;416;403;336;99;113	ENSP00000433287:S412I;ENSP00000320324:S416I;ENSP00000442461:S336I;ENSP00000435639:S99I;ENSP00000435966:S113I	ENSP00000320324:S416I	S	+	2	0	NPEPPS	43023233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.622000	0.88805	0.591000	0.81541	AGC	.		0.408	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		T	45668234	G	T	45668234	3	4	9	1	0	0	0	0	1	0	0	0	10614	971	34	3	1285	3	NPEPPS	17	45668234	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2345867	45668234	35526976	580	2167											
SNF8	11267	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	47007866	47007866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctctggcctcctcagCtgtaatctcctgggagtaga	11	12	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:47007866C>A	ENST00000502492.1	-	8	1130	c.748G>T	c.(748-750)Gct>Tct	p.A250S	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.A249S|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	250				A -> P (in Ref. 1; AAD46560). {ECO:0000305}.	endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						GCCTCCTCAGCTGTAATCTCC	0.602																																					p.A250S		.											.	SNF8-90	0			c.G748T						.						27	26	26					17																	47007866		2203	4300	6503	SO:0001583	missense	11267	exon8			CCTCAGCTGTAAT	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.748G>T	17.37:g.47007866C>A	ENSP00000421380:p.Ala250Ser	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	20	6	NM_007241	0	0	38	42	4	Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454539	0.43634	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	5.87	4.91	0.64330	.	0.215793	0.49916	D	0.000129	T	0.38026	0.1025	N	0.14661	0.345	0.44635	D	0.997618	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.30031	-0.9992	9	0.87932	D	0	-7.6294	6.9939	0.24772	0.0:0.6615:0.1858:0.1527	.	249;250	Q96H20-2;Q96H20	.;SNF8_HUMAN	S	250;249	.	ENSP00000290330:A249S	A	-	1	0	SNF8	44362865	1.000000	0.71417	0.915000	0.36163	0.976000	0.68499	4.523000	0.60545	1.630000	0.50440	0.655000	0.94253	GCT	.		0.602	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		A	47007866	C	A	47007866	3	1	9	1	0	0	0	0	1	0	0	0	14891	797	28	3	32	3	SNF8	17	47007866	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1339632	47007866	34187344	581	2168											
PRKAR1A	5573	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	66526420	66526420	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catctttgctttctccaggtGaaattgcactactgatgaat	7	9	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:66526420G>T	ENST00000589228.1	+	11	1104	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.E326*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.E326*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	326					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TTCTCCAGGTGAAATTGCACT	0.438			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.E326X	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	0			c.G976T						.						190	170	177					17																	66526420		2203	4300	6503	SO:0001587	stop_gained	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	CCAGGTGAAATTG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.976G>T	17.37:g.66526420G>T	ENSP00000464977:p.Glu326*	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	112	29	NM_212472	0	0	0	0	0	K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.219589	0.97385	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8524	20.2704	0.98474	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000351410:E326X	E	+	1	0	PRKAR1A	64038015	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.841000	0.99482	2.793000	0.96121	0.591000	0.81541	GAA	.		0.438	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			T	66526420	G	T	66526420	4	4	9	1	0	0	0	0	0	1	0	0	12545	1291	45	3	1014	3	PRKAR1A	17	66526420	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	19518554	66526420	14668790	582	2169											
MAP2K6	5608	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	67515498	67515498	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggaacagaaacggctactGatggatttggatatttccat	10	7	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:67515498G>T	ENST00000590474.1	+	5	578	c.291G>T	c.(289-291)ctG>ctT	p.L97L	MAP2K6_ENST00000589647.1_Silent_p.L41L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AACGGCTACTGATGGATTTGG	0.473																																					p.L97L		.											.	MAP2K6-1404	0			c.G291T						.						158	147	151					17																	67515498		2203	4300	6503	SO:0001819	synonymous_variant	5608	exon5			GCTACTGATGGAT	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.291G>T	17.37:g.67515498G>T		Somatic	252	3		WXS	Illumina GAIIx	Phase_I	189	89	NM_002758	0	0	0	0	0		Silent	SNP	ENST00000590474.1	37	CCDS11686.1																																																																																			.		0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		T	67515498	G	T	67515498	2	4	9	1	0	0	0	0	0	0	0	1	9279	1277	45	3		3	MAP2K6	17	67515498	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	989078	67515498	13679712	583	2170											
KCNJ2	3759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	68171641	68171641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtgtcacggatgaatGcccaattgctgttttcatgg	11	8	2	2	rs199473380		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:68171641G>T	ENST00000243457.3	+	2	844	c.461G>T	c.(460-462)tGc>tTc	p.C154F	KCNJ2_ENST00000535240.1_Missense_Mutation_p.C154F	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	154					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGATGAATGCCCAATTGCT	0.507																																					p.C154F		.											.	KCNJ2-90	0			c.G461T	GRCh37	CM055968	KCNJ2	M		.						189	176	180					17																	68171641		2203	4300	6503	SO:0001583	missense	3759	exon2			ATGAATGCCCAAT	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.461G>T	17.37:g.68171641G>T	ENSP00000243457:p.Cys154Phe	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	87	36	NM_000891	0	0	0	0	0	O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329073	0.60743	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.97378	-4.36;-4.36	5.82	5.82	0.92795	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98925	1.0785	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	154	P63252	IRK2_HUMAN	F	154	ENSP00000441848:C154F;ENSP00000243457:C154F	.	C	+	2	0	KCNJ2	65683236	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	9.869000	0.99810	2.755000	0.94549	0.555000	0.69702	TGC	.		0.507	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		T	68171641	G	T	68171641	3	4	9	1	0	0	0	0	1	0	0	0	8078	1319	46	3	463	3	KCNJ2	17	68171641	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	656143	68171641	13023569	584	2171											
SSTR2	6752	ucsc.edu;bcgsc.ca	37	chr17	71166384	71166384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctaacagctgtgccaaccCtatcctatatgccttcttgt	6	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:71166384C>A	ENST00000357585.2	+	2	1295	c.926C>A	c.(925-927)cCt>cAt	p.P309H	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.P309H	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	309					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGTGCCAACCCTATCCTATAT	0.522																																					p.P309H		.											.	SSTR2-522	0			c.C926A						.						144	124	131					17																	71166384		2203	4300	6503	SO:0001583	missense	6752	exon2			CCAACCCTATCCT		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.926C>A	17.37:g.71166384C>A	ENSP00000350198:p.Pro309His	Somatic	178	2		WXS	Illumina GAIIx	Phase_I	135	54	NM_001050	0	0	0	0	0	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870846	0.72065	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	D;D	0.98807	-5.15;-5.15	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97142	0.9825	10	0.87932	D	0	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	309	P30874	SSR2_HUMAN	H	309	ENSP00000350198:P309H;ENSP00000326616:P309H	ENSP00000326616:P309H	P	+	2	0	SSTR2	68677979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.577000	0.86979	0.655000	0.94253	CCT	.		0.522	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			A	71166384	C	A	71166384	3	1	9	1	0	0	0	0	1	0	0	0	15245	681	24	3	928	3	SSTR2	17	71166384	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2994743	71166384	10028826	585	2172											
MRPS7	51081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73258729	73258729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcaaagctgctccaGcagggaaaacaagttctgtg	10	10	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:73258729G>T	ENST00000245539.6	+	2	462	c.235G>T	c.(235-237)Gca>Tca	p.A79S	GGA3_ENST00000537686.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.A108S|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.A79S|GGA3_ENST00000579743.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	79					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCTGCTCCAGCAGGGAAAAC	0.468																																					p.A79S		.											.	MRPS7-90	0			c.G235T						.						126	133	131					17																	73258729		2203	4300	6503	SO:0001583	missense	51081	exon2			GCTCCAGCAGGGA	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.235G>T	17.37:g.73258729G>T	ENSP00000245539:p.Ala79Ser	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	50	19	NM_015971	0	0	24	43	19	B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480834	0.26598	.	.	ENSG00000125445	ENST00000245539	T	0.43688	0.94	5.83	-0.047	0.13845	Ribosomal protein S7 domain (2);	0.588557	0.19579	N	0.110905	T	0.13670	0.0331	N	0.04203	-0.255	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.30822	-0.9965	10	0.02654	T	1	-10.375	5.0985	0.14747	0.0624:0.2097:0.3299:0.398	.	79	Q9Y2R9	RT07_HUMAN	S	79	ENSP00000245539:A79S	ENSP00000245539:A79S	A	+	1	0	MRPS7	70770324	0.003000	0.15002	0.002000	0.10522	0.862000	0.49288	0.393000	0.20817	0.065000	0.16485	0.650000	0.86243	GCA	.		0.468	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		T	73258729	G	T	73258729	3	4	9	1	0	0	0	0	1	0	0	0	9886	971	34	3	241	3	MRPS7	17	73258729	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2092345	73258729	7936481	586	2173											
MRPL38	64978	broad.mit.edu;bcgsc.ca	37	chr17	73898152	73898152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattggcccgaagctcctGgatggcctgtttccgttcca	10	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:73898152G>T	ENST00000309352.3	-	3	868	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	111						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAAGCTCCTGGATGGCCTGT	0.592																																					p.Q111K		.											.	MRPL38-46	0			c.C331A						.						79	71	74					17																	73898152		2202	4299	6501	SO:0001583	missense	64978	exon3			GCTCCTGGATGGC	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.331C>A	17.37:g.73898152G>T	ENSP00000308275:p.Gln111Lys	Somatic	165	2		WXS	Illumina GAIIx	Phase_I	110	22	NM_032478	0	0	42	45	3	B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.964781	0.00461	.	.	ENSG00000204316	ENST00000309352	T	0.21543	2.0	5.15	4.12	0.48240	.	0.581184	0.18301	N	0.145411	T	0.07458	0.0188	N	0.03194	-0.395	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	10	0.02654	T	1	.	9.7574	0.40510	0.0:0.1227:0.6532:0.2241	.	111	Q96DV4	RM38_HUMAN	K	111	ENSP00000308275:Q111K	ENSP00000308275:Q111K	Q	-	1	0	MRPL38	71409747	0.020000	0.18652	0.004000	0.12327	0.001000	0.01503	2.100000	0.41777	2.372000	0.80975	0.650000	0.86243	CAG	.		0.592	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		T	73898152	G	T	73898152	3	4	9	1	0	0	0	0	1	0	0	0	9839	1357	47	3	839	3	MRPL38	17	73898152	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	639423	73898152	7297058	587	2174											
AFMID	125061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76202078	76202078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgaagagctccacgatgtgGaccactttgaaattgttgag	11	7	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:76202078G>T	ENST00000327898.5	+	10	856	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	AFMID_ENST00000409257.5_Missense_Mutation_p.D278Y|AFMID_ENST00000588800.1_Missense_Mutation_p.W85C|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_3'UTR					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCACGATGTGGACCACTTTGA	0.572																																					p.D283Y		.											.	AFMID-136	0			c.G847T						.						83	72	75					17																	76202078		2203	4300	6503	SO:0001583	missense	125061	exon10			GATGTGGACCACT	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.847G>T	17.37:g.76202078G>T	ENSP00000328938:p.Asp283Tyr	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	83	21	NM_001145526	0	0	12	14	2		Missense_Mutation	SNP	ENST00000327898.5	37	CCDS45801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.003749|3.003749	0.54254|0.54254	.|.	.|.	ENSG00000183077|ENSG00000183077	ENST00000409257;ENST00000327898|ENST00000409722	T|.	0.11063|.	2.81|.	4.14|4.14	4.14|4.14	0.48551|0.48551	Alpha/beta hydrolase fold-3 (1);|.	0.206931|.	0.48767|.	D|.	0.000173|.	D|D	0.84561|0.84561	0.5499|0.5499	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.89917	1.0;1.0|1.0	D;D|D	0.73708|0.80764	0.981;0.967|0.994	D|D	0.88316|0.88316	0.2959|0.2959	10|8	0.72032|0.87932	D|D	0.01|0	-20.5752|-20.5752	13.2364|13.2364	0.59971|0.59971	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278;283|85	Q63HM1;Q63HM1-2|B8ZZB1	AFMID_HUMAN;.|.	Y|C	278;283|85	ENSP00000386890:D278Y|.	ENSP00000328938:D283Y|ENSP00000387283:W85C	D|W	+|+	1|3	0|0	AFMID|AFMID	73713673|73713673	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.421000|0.421000	0.31385|0.31385	6.176000|6.176000	0.71955|0.71955	2.124000|2.124000	0.65301|0.65301	0.561000|0.561000	0.74099|0.74099	GAC|TGG	.		0.572	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		T	76202078	G	T	76202078	3	4	9	1	0	0	0	0	1	0	0	0	362	1174	41	3	885	3	AFMID	17	76202078	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2303926	76202078	4993132	588	2175											
TBC1D16	125058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	77984098	77984098	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacgccctcggctgacagttCcaaagagccatcctcctccc	7	19	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:77984098C>A	ENST00000310924.2	-	3	755	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	214	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCTGACAGTTCCAAAGAGCCA	0.667																																					p.E214X	Ovarian(14;397 562 4850 31922 49378)	.											.	TBC1D16-90	0			c.G640T						.						56	54	55					17																	77984098		2203	4299	6502	SO:0001587	stop_gained	125058	exon3			ACAGTTCCAAAGA	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.640G>T	17.37:g.77984098C>A	ENSP00000309794:p.Glu214*	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	152	75	NM_019020	0	0	0	1	1	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Nonsense_Mutation	SNP	ENST00000310924.2	37	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091389	0.94149	.	.	ENSG00000167291	ENST00000310924	.	.	.	4.86	4.86	0.63082	.	0.382963	0.31772	N	0.007084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.0463	17.9874	0.89159	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000309794:E214X	E	-	1	0	TBC1D16	75598693	1.000000	0.71417	0.991000	0.47740	0.061000	0.15899	6.997000	0.76270	2.244000	0.73946	0.591000	0.81541	GAA	.		0.667	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		A	77984098	C	A	77984098	4	1	9	1	0	0	0	0	0	1	0	0	15652	864	30	3	1703	3	TBC1D16	17	77984098	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1782020	77984098	3211112	589	2176											
FSCN2	25794	hgsc.bcm.edu	37	chr17	79504073	79504073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgggccgatgccgaCgccccggccgggaccgcgct	16	18	0	0	rs143561119	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr17:79504073C>T	ENST00000417245.2	+	5	1582	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	FSCN2_ENST00000334850.7_Silent_p.D506D	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	482					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGATGCCGACGCCCCGGCCG	0.736													C|||	110	0.0219649	0.0061	0.0331	5008	,	,		8422	0		0.0736	False		,,,				2504	0.0051				p.D506D		.											.	.	0			c.C1518T						.						1	2	2					17																	79504073		1028	2406	3434	SO:0001819	synonymous_variant	25794	exon5			TGCCGACGCCCCG	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1446C>T	17.37:g.79504073C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001077182	0	0	0	0	0	A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	CCDS45811.1																																																																																			C|0.964;T|0.036		0.736	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79504073	C	T	79504073	2	4	9	1	0	0	0	0	0	0	0	1	6092	535	19	1		1	FSCN2	17	79504073	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1519975	79504073	1691137	590	2177											
TMEM200C	645369	hgsc.bcm.edu	37	chr18	5890571	5890571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccttggccagagggcTggagtccgggtccgcactcc	17	14	0	1	rs7506026	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:5890571T>C	ENST00000581347.2	-	3	2137	c.1492A>G	c.(1492-1494)Agc>Ggc	p.S498G	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.S498G|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	498	Pro-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCAGAGGGCTGGAGTCCGGG	0.791													T|||	237	0.0473243	0.0847	0.0375	5008	,	,		7356	0.001		0.0775	False		,,,				2504	0.0204				p.S498G		.											.	.	0			c.A1492G						.	T	GLY/SER	155,2477		3,149,1164	3	3	3		1492	-1.2	0	18	dbSNP_116	3	267,5869		4,259,2805	no	missense	TMEM200C	NM_001080209.1	56	7,408,3969	CC,CT,TT		4.3514,5.8891,4.813	benign	498/622	5890571	422,8346	1316	3068	4384	SO:0001583	missense	645369	exon1			GAGGGCTGGAGTC		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1492A>G	18.37:g.5890571T>C	ENSP00000463375:p.Ser498Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001080209	0	0	0	0	0		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	128	0.05860805860805861	46	0.09349593495934959	17	0.04696132596685083	3	0.005244755244755245	62	0.08179419525065963	T	13.97	2.397165	0.42512	0.058891	0.043514	ENSG00000206432	ENST00000383490	.	.	.	4.37	-1.18	0.09617	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	8	0.08599	T	0.76	.	4.9842	0.14182	0.1362:0.3204:0.0:0.5434	rs7506026	498	A6NKL6	T200C_HUMAN	G	498	.	ENSP00000372982:S498G	S	-	1	0	TMEM200C	5880571	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.166000	0.09954	-0.178000	0.10672	0.459000	0.35465	AGC	T|0.941;C|0.059		0.791	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		C	5890571	T	C	5890571	3	2	9	1	0	0	0	0	1	0	0	0	16172	1580	55	4	377	4	TMEM200C	18	5890571	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10		5890571	72186677	591	2178											
TWSG1	57045	broad.mit.edu	37	chr18	9399488	9399488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagaatgtattgactatgGtagtaaaactgtcaaatgta	8	5	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:9399488G>T	ENST00000262120.5	+	5	826	c.635G>T	c.(634-636)gGt>gTt	p.G212V		NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	212					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						ATTGACTATGGTAGTAAAACT	0.358																																					p.G212V		.											.	TWSG1-92	0			c.G635T						.						99	94	96					18																	9399488		2203	4300	6503	SO:0001583	missense	57045	exon5			ACTATGGTAGTAA	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"twisted gastrulation homolog 1 (Drosophila)"			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.635G>T	18.37:g.9399488G>T	ENSP00000262120:p.Gly212Val	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	62	4	NM_020648	0	0	5	5	0	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768316	0.90020	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86867	0.2033	9	0.87932	D	0	-31.1142	17.3385	0.87289	0.0:0.0:1.0:0.0	.	212	Q9GZX9	TWSG1_HUMAN	V	212	.	ENSP00000262120:G212V	G	+	2	0	TWSG1	9389488	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	9.771000	0.98977	2.341000	0.79615	0.455000	0.32223	GGT	.		0.358	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			T	9399488	G	T	9399488	3	4	9	1	0	0	0	0	1	0	0	0	16834	1261	44	3	649	3	TWSG1	18	9399488	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3508917	9399488	68677760	592	2179											
ANKRD30B	374860	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	14748544	14748544	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcggggatctagggaagatCcatacagctgcctcccgggg	14	11	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:14748544C>A	ENST00000358984.4	+	1	306	c.126C>A	c.(124-126)atC>atA	p.I42I	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.I42I	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	42										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGGGAAGATCCATACAGCTG	0.577																																					p.I42I		.											.	ANKRD30B-24	0			c.C126A						.						38	40	39					18																	14748544		692	1591	2283	SO:0001819	synonymous_variant	374860	exon1			GAAGATCCATACA	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.126C>A	18.37:g.14748544C>A		Somatic	100	1		WXS	Illumina GAIIx	Phase_I	79	51	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.577	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14748544	C	A	14748544	2	1	9	1	0	0	0	0	0	0	0	1	659	845	30	3		3	ANKRD30B	18	14748544	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5349056	14748544	63328704	593	2180											
ROCK1	6093	broad.mit.edu	37	chr18	18586509	18586509	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtgtgactcttcctcaatCttacagctgtgtccgattct	7	12	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:18586509C>A	ENST00000399799.2	-	16	2628	c.1688G>T	c.(1687-1689)aGa>aTa	p.R563I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	563	Interaction with FHOD1.				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)					CTTCCTCAATCTTACAGCTGT	0.368																																					p.R563I		.											.	ROCK1-1026	0			c.G1688T						.						130	113	119					18																	18586509		2203	4300	6503	SO:0001583	missense	6093	exon16			CTCAATCTTACAG		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.1688G>T	18.37:g.18586509C>A	ENSP00000382697:p.Arg563Ile	Somatic	61	2		WXS	Illumina GAIIx	Phase_I	60	9	NM_005406	0	0	3	6	3	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996324	0.93167	.	.	ENSG00000067900	ENST00000399799	T	0.66280	-0.2	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.83496	0.0072	10	0.87932	D	0	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	563	Q13464	ROCK1_HUMAN	I	563	ENSP00000382697:R563I	ENSP00000382697:R563I	R	-	2	0	ROCK1	16840507	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.320000	0.79064	2.832000	0.97577	0.655000	0.94253	AGA	.		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18586509	C	A	18586509	3	1	9	1	0	0	0	0	1	0	0	0	13562	913	32	3	2448	3	ROCK1	18	18586509	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3837965	18586509	59490739	594	2181											
DSC3	1825	broad.mit.edu	37	chr18	28610987	28610987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctctttctgtgtctgtttCcttttgtcagaaagccatat	6	10	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:28610987C>A	ENST00000360428.4	-	3	386	c.306G>T	c.(304-306)agG>agT	p.R102S	DSC3_ENST00000434452.1_Missense_Mutation_p.R102S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	102			R -> K (in dbSNP:rs276938).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTGTCTGTTTCCTTTTGTCAG	0.358																																					p.R102S		.											.	DSC3-94	0			c.G306T						.						102	92	96					18																	28610987		2203	4300	6503	SO:0001583	missense	1825	exon3			CTGTTTCCTTTTG	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.306G>T	18.37:g.28610987C>A	ENSP00000353608:p.Arg102Ser	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	99	4	NM_024423	0	0	0	0	0	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008861	0.07912	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59638	0.25;0.25	5.28	3.51	0.40186	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.42988	0.1227	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.002;0.012	B;B	0.17979	0.02;0.012	T	0.37731	-0.9693	9	0.56958	D	0.05	.	10.6142	0.45441	0.0:0.8427:0.0:0.1573	.	102;102	Q14574;Q14574-2	DSC3_HUMAN;.	S	102	ENSP00000353608:R102S;ENSP00000392068:R102S	ENSP00000353608:R102S	R	-	3	2	DSC3	26864985	0.009000	0.17119	0.022000	0.16811	0.007000	0.05969	0.631000	0.24568	0.816000	0.34421	0.555000	0.69702	AGG	.		0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28610987	C	A	28610987	3	1	9	1	0	0	0	0	1	0	0	0	4781	854	30	3	2471	3	DSC3	18	28610987	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10024478	28610987	49466261	595	2182											
FHOD3	80206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	34320707	34320707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatccccctgggcagtgCagagcagttcctcctcaccc	9	16	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:34320707C>A	ENST00000359247.4	+	17	3089	c.3089C>A	c.(3088-3090)gCa>gAa	p.A1030E	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1047E|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1009E|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1222E|FHOD3_ENST00000592128.1_Missense_Mutation_p.A26E|FHOD3_ENST00000591635.1_Missense_Mutation_p.A243E	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1030	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)				CTGGGCAGTGCAGAGCAGTTC	0.498																																					p.A1047E		.											.	FHOD3-139	0			c.C3140A						.						87	77	80					18																	34320707		2203	4300	6503	SO:0001583	missense	80206	exon18			GCAGTGCAGAGCA	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.3089C>A	18.37:g.34320707C>A	ENSP00000352186:p.Ala1030Glu	Somatic	167	2		WXS	Illumina GAIIx	Phase_I	160	35	NM_025135	0	0	24	27	3	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	26.1	4.700512	0.88924	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20200	2.09;2.09;2.09	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.53746	-0.8395	10	0.52906	T	0.07	.	19.1729	0.93588	0.0:1.0:0.0:0.0	.	251;1009;1030;1047	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	E	1047;1030;1009	ENSP00000257209:A1047E;ENSP00000352186:A1030E;ENSP00000411430:A1009E	ENSP00000257209:A1047E	A	+	2	0	FHOD3	32574705	1.000000	0.71417	0.907000	0.35723	0.577000	0.36160	7.798000	0.85924	2.873000	0.98535	0.563000	0.77884	GCA	.		0.498	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		A	34320707	C	A	34320707	3	1	9	1	0	0	0	0	1	0	0	0	5905	710	25	3	3210	3	FHOD3	18	34320707	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5709720	34320707	43756541	596	2183											
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	43221304	43221304	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actcacctgctggccctcatCtgtggtaggtgttcagaaaa	10	11	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:43221304C>A	ENST00000255226.6	+	8	1938	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	SLC14A2_ENST00000586448.1_Silent_p.I374I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	374					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCCTCATCTGTGGTAGGT	0.522																																					p.I374I		.											.	SLC14A2-93	0			c.C1122A						.						105	83	90					18																	43221304		2203	4300	6503	SO:0001819	synonymous_variant	8170	exon9			CCTCATCTGTGGT	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1122C>A	18.37:g.43221304C>A		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	79	30	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																			.		0.522	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43221304	C	A	43221304	2	1	9	1	0	0	0	0	0	0	0	1	14442	903	32	3		3	SLC14A2	18	43221304	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8900597	43221304	34855944	597	2184											
SKA1	220134	ucsc.edu	37	chr18	47908517	47908517	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaactctgtgaatctcttGaagaagattacaaagacata	8	6	2	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:47908517G>T	ENST00000285116.3	+	4	443	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	SKA1_ENST00000398452.2_Nonsense_Mutation_p.E78*|SKA1_ENST00000417656.2_Nonsense_Mutation_p.E78*|SKA1_ENST00000488454.1_5'UTR	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	78					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAATCTCTTGAAGAAGATTA	0.348																																					p.E78X		.											.	SKA1-90	0			c.G232T						.						71	74	73					18																	47908517		2203	4300	6503	SO:0001587	stop_gained	220134	exon4			TCTCTTGAAGAAG	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.232G>T	18.37:g.47908517G>T	ENSP00000285116:p.Glu78*	Somatic	128	3		WXS	Illumina GAIIx	Phase_I	171	16	NM_001039535	0	0	2	2	0	B2R9Y6|B4E0P4	Nonsense_Mutation	SNP	ENST00000285116.3	37	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	37	6.598228	0.97692	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	.	.	.	5.66	4.77	0.60923	.	0.221576	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.2306	12.8265	0.57723	0.0803:0.0:0.9197:0.0	.	.	.	.	X	78	.	ENSP00000285116:E78X	E	+	1	0	SKA1	46162515	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	3.370000	0.52372	1.360000	0.45960	0.561000	0.74099	GAA	.		0.348	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		T	47908517	G	T	47908517	4	4	9	1	0	0	0	0	0	1	0	0	14397	1291	45	3	242	3	SKA1	18	47908517	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4687213	47908517	30168731	598	2185											
ALPK2	115701	broad.mit.edu	37	chr18	56171296	56171296	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatccctgatggaatacttCacaaattctccaatcagctc	4	14	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:56171296C>A	ENST00000361673.3	-	11	6327	c.6114G>T	c.(6112-6114)gtG>gtT	p.V2038V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2038	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGAATACTTCACAAATTCTC	0.438																																					p.V2038V		.											.	ALPK2-765	0			c.G6114T						.						182	175	177					18																	56171296		2203	4300	6503	SO:0001819	synonymous_variant	115701	exon11			ATACTTCACAAAT	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.6114G>T	18.37:g.56171296C>A		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	86	4	NM_052947	0	0	0	0	0	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																			.		0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56171296	C	A	56171296	2	1	9	1	0	0	0	0	0	0	0	1	545	813	29	3		3	ALPK2	18	56171296	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8262779	56171296	21905952	599	2186											
TNFRSF11A	8792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	60036497	60036497	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgtctgcacaggctgCcggaaccctcctggggagga	15	12	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:60036497C>G	ENST00000586569.1	+	9	1385	c.1347C>G	c.(1345-1347)tgC>tgG	p.C449W	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	449					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCACAGGCTGCCGGAACCCTC	0.617																																					p.C449W		.											.	TNFRSF11A-659	0			c.C1347G						.						33	35	34					18																	60036497		2202	4300	6502	SO:0001583	missense	8792	exon9			AGGCTGCCGGAAC	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1347C>G	18.37:g.60036497C>G	ENSP00000465500:p.Cys449Trp	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	42	35	NM_003839	0	0	0	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891669	0.52014	.	.	ENSG00000141655	ENST00000269485	.	.	.	4.55	1.72	0.24424	.	13.009000	0.00769	U	0.001188	T	0.61489	0.2351	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.21008	-1.0258	8	.	.	.	-8.485	7.262	0.26209	0.0:0.6181:0.0:0.3819	.	449	Q9Y6Q6	TNR11_HUMAN	W	449	.	.	C	+	3	2	TNFRSF11A	58187477	0.006000	0.16342	0.005000	0.12908	0.499000	0.33736	-0.145000	0.10265	0.038000	0.15604	0.563000	0.77884	TGC	.		0.617	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			G	60036497	C	G	60036497	3	3	9	1	0	0	0	0	1	0	0	0	16331	747	26	3	1381	3	TNFRSF11A	18	60036497	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3865201	60036497	18040751	600	2187											
CCDC102B	79839	broad.mit.edu	37	chr18	66505987	66505987	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaaaattaagtgaggagatGaagcccaatctagatggtgt	11	5	1	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:66505987G>T	ENST00000360242.5	+	3	768	c.651G>T	c.(649-651)atG>atT	p.M217I	CCDC102B_ENST00000584156.1_Missense_Mutation_p.M217I|CCDC102B_ENST00000358653.5_Missense_Mutation_p.M217I|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.M217I	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	217										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)				GTGAGGAGATGAAGCCCAATC	0.373																																					p.M217I		.											.	CCDC102B-93	0			c.G651T						.						98	99	99					18																	66505987		2203	4300	6503	SO:0001583	missense	79839	exon5			GGAGATGAAGCCC	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.651G>T	18.37:g.66505987G>T	ENSP00000353377:p.Met217Ile	Somatic	81	3		WXS	Illumina GAIIx	Phase_I	101	15	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358497	0.05138	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.27	0.50696	.	0.669320	0.14135	N	0.339102	T	0.46483	0.1395	L	0.42245	1.32	0.20307	N	0.999912	B;B	0.24426	0.009;0.103	B;B	0.21546	0.005;0.035	T	0.35226	-0.9797	10	0.34782	T	0.22	-0.2479	6.8079	0.23788	0.2653:0.0:0.7347:0.0	.	217;217	Q68D86-3;Q68D86	.;C102B_HUMAN	I	217	ENSP00000316237:M217I;ENSP00000351479:M217I;ENSP00000353377:M217I	ENSP00000316237:M217I	M	+	3	0	CCDC102B	64656967	0.703000	0.27826	0.248000	0.24265	0.038000	0.13279	0.740000	0.26188	0.964000	0.38108	0.591000	0.81541	ATG	.		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66505987	G	T	66505987	3	4	9	1	0	0	0	0	1	0	0	0	2744	1290	45	3	657	3	CCDC102B	18	66505987	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	6469490	66505987	11571261	601	2188											
NFATC1	4772	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	77246918	77246918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcctgaagagttggaCcagttgtacctggatgacgg	15	8	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr18:77246918C>A	ENST00000427363.2	+	9	2763	c.2763C>A	c.(2761-2763)gaC>gaA	p.D921E	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.D908E|NFATC1_ENST00000545796.1_Missense_Mutation_p.D449E|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	921	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AAGAGTTGGACCAGTTGTACC	0.637																																					p.D908E	GBM(151;1210 2593 28719 45011)	.											.	NFATC1-290	0			c.C2724A						.						51	43	46					18																	77246918		2091	4115	6206	SO:0001583	missense	4772	exon9			GTTGGACCAGTTG	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2763C>A	18.37:g.77246918C>A	ENSP00000389377:p.Asp921Glu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_172387	0	0	0	0	0	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	18.78	3.697699	0.68386	.	.	ENSG00000131196	ENST00000318065;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T	0.54479	1.66;0.57	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.45352	1.415	0.47819	D	0.999527	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.59521	-0.7439	9	.	.	.	-39.5862	11.2413	0.48970	0.0:0.9155:0.0:0.0845	.	921;908	O95644;B5B2M5	NFAC1_HUMAN;.	E	921;908;449;908;885	ENSP00000327850:D908E;ENSP00000439992:D449E	.	D	+	3	2	NFATC1	75347906	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.426000	0.44731	2.246000	0.74042	0.561000	0.74099	GAC	.		0.637	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77246918	C	A	77246918	3	1	9	1	0	0	0	0	1	0	0	0	10400	506	18	3	2948	3	NFATC1	18	77246918	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10740931	77246918	830330	602	2189											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	1047284	1047284	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccaacctggctgcggcCtgcggcggcctggcctactt	14	17	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:1047284C>A	ENST00000263094.6	+	15	2205	c.1974C>A	c.(1972-1974)gcC>gcA	p.A658A	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.A520A|ABCA7_ENST00000433129.1_Silent_p.A658A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	658					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)		TGGCTGCGGCCTGCGGCGGCC	0.706																																					p.A658A		.											.	ABCA7-98	0			c.C1974A						.						24	22	23					19																	1047284		2196	4296	6492	SO:0001819	synonymous_variant	10347	exon15			TGCGGCCTGCGGC	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.1974C>A	19.37:g.1047284C>A		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	60	9	NM_019112	0	0	1	1	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.706	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1047284	C	A	1047284	2	1	9	1	0	0	0	0	0	0	0	1	37	668	24	3		3	ABCA7	19	1047284	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		1047284	58081699	603	2190											
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912817	1912817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggccgcggcacctaCgacttcagacccttccccgc	11	19	1	1	rs35870594	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:1912817C>T	ENST00000602400.1	+	2	951	c.723C>T	c.(721-723)taC>taT	p.Y241Y	SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000329478.2_Silent_p.Y257Y|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	241					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCACCTACGACTTCAGAC	0.741													C|||	483	0.0964457	0.0968	0.1527	5008	,	,		9567	0.122		0.0636	False		,,,				2504	0.0634				p.Y257Y		.											.	ADAT3-154	0			c.C771T						.	C	,	245,3961		8,229,1866	7	9	8		,723	-9.6	0	19	dbSNP_126	8	305,7811		7,291,3760	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	15,520,5626	TT,TC,CC		3.758,5.825,4.4636	,	,241/352	1912817	550,11772	2103	4058	6161	SO:0001819	synonymous_variant	113179	exon2			CACCTACGACTTC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.723C>T	19.37:g.1912817C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_138422	0	0	1	2	1		Silent	SNP	ENST00000602400.1	37																																																																																				C|0.899;T|0.101		0.741	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		T	1912817	C	T	1912817	2	4	9	1	0	0	0	0	0	0	0	1	286	547	19	1		1	ADAT3	19	1912817	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	865533	1912817	57216166	604	2191											
LMNB2	84823	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	2434856	2434856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccttcagctcctcgCgagccgcactggccgccttg	12	18	1	0	rs567796688		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:2434856C>T	ENST00000582871.1	-	6	937	c.851G>A	c.(850-852)cGc>cAc	p.R284H	LMNB2_ENST00000325327.3_Missense_Mutation_p.R304H	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	284	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTCCTCGCGAGCCGCACT	0.706																																					p.R304H		.											.	LMNB2-290	0			c.G911A						.						17	15	16					19																	2434856		2187	4268	6455	SO:0001583	missense	84823	exon6			TCCTCGCGAGCCG	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.851G>A	19.37:g.2434856C>T	ENSP00000462730:p.Arg284His	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	105	26	NM_032737	0	0	10	12	2	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198508	0.38806	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	3.39	0.38822	Filament (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.63208	1.945	0.58432	D	0.999996	D	0.56521	0.976	P	0.49085	0.6	T	0.54906	-0.8223	9	0.25106	T	0.35	.	10.8346	0.46679	0.0:0.9053:0.0:0.0947	.	284	Q03252	LMNB2_HUMAN	H	284	.	ENSP00000327054:R284H	R	-	2	0	LMNB2	2385856	0.965000	0.33210	0.176000	0.23000	0.824000	0.46624	2.397000	0.44477	0.844000	0.35094	0.561000	0.74099	CGC	.		0.706	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		T	2434856	C	T	2434856	3	4	9	1	0	0	0	0	1	0	0	0	8880	768	27	1	979	1	LMNB2	19	2434856	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	522039	2434856	56694127	605	2192											
PIP5K1C	23396	broad.mit.edu	37	chr19	3644184	3644184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagaaggcagcggtggGccccagcggtttcacagcta	16	12	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:3644184G>T	ENST00000335312.3	-	12	1499	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.P471T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.P471T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.P471T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	471					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCAGCGGTGGGCCCCAGCGGT	0.697																																					p.P471T	Esophageal Squamous(135;99 1744 12852 27186 39851)	.											.	PIP5K1C-267	0			c.C1411A						.						33	39	37					19																	3644184		2202	4298	6500	SO:0001583	missense	23396	exon12			CGGTGGGCCCCAG	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1411C>A	19.37:g.3644184G>T	ENSP00000335333:p.Pro471Thr	Somatic	33	1		WXS	Illumina GAIIx	Phase_I	129	6	NM_001195733	0	0	12	13	1	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492391	0.26774	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27104	1.72;1.72;1.69	4.66	4.66	0.58398	.	0.056271	0.64402	D	0.000001	T	0.19327	0.0464	L	0.31065	0.9	0.51233	D	0.999915	B;B	0.25955	0.138;0.085	B;B	0.23852	0.049;0.022	T	0.04255	-1.0965	10	0.48119	T	0.1	-33.0976	11.746	0.51819	0.0:0.0:0.8238:0.1762	.	471;471	O60331-3;O60331	.;PI51C_HUMAN	T	471	ENSP00000335333:P471T;ENSP00000445992:P471T;ENSP00000444779:P471T	ENSP00000335333:P471T	P	-	1	0	PIP5K1C	3595184	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.295000	0.78780	2.146000	0.66826	0.491000	0.48974	CCC	.		0.697	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		T	3644184	G	T	3644184	3	4	9	1	0	0	0	0	1	0	0	0	11980	1203	42	3	623	3	PIP5K1C	19	3644184	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1209328	3644184	55484799	606	2193											
TICAM1	148022	bcgsc.ca	37	chr19	4817397	4817397	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagaaagttggagtggcgtCtggtctttgacagagcaggg	16	6	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:4817397C>A	ENST00000248244.5	-	2	1222	c.993G>T	c.(991-993)caG>caT	p.Q331H		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	331	Pro-rich.				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)		GGAGTGGCGTCTGGTCTTTGA	0.582																																					p.Q331H		.											.	TICAM1-153	0			c.G993T						.						52	55	54					19																	4817397		2199	4290	6489	SO:0001583	missense	148022	exon2			TGGCGTCTGGTCT	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.993G>T	19.37:g.4817397C>A	ENSP00000248244:p.Gln331His	Somatic	62	2		WXS	Illumina GAIIx	Phase_I	96	42	NM_182919	0	0	2	2	0	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625267	0.46840	.	.	ENSG00000127666	ENST00000248244	T	0.48522	0.81	4.49	1.82	0.25136	.	1.172480	0.06616	U	0.756554	T	0.42765	0.1217	L	0.60455	1.87	0.09310	N	1	B	0.24186	0.099	B	0.17433	0.018	T	0.39781	-0.9597	10	0.54805	T	0.06	-1.887	5.644	0.17579	0.0:0.65:0.1956:0.1544	.	331	Q8IUC6	TCAM1_HUMAN	H	331	ENSP00000248244:Q331H	ENSP00000248244:Q331H	Q	-	3	2	TICAM1	4768397	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.014000	0.13333	0.969000	0.38237	0.297000	0.19635	CAG	.		0.582	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		A	4817397	C	A	4817397	3	1	9	1	0	0	0	0	1	0	0	0	15939	912	32	3	1149	3	TICAM1	19	4817397	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1173213	4817397	54311586	607	2194											
ARHGEF18	23370	broad.mit.edu	37	chr19	7516148	7516148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcatcatccagaacacGgaaggtaggccttctcccca	10	14	2	1	rs549053506		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7516148G>A	ENST00000359920.6	+	6	1540	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R387Q|ARHGEF18_ENST00000319670.9_Silent_p.T271T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	429	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCAGAACACGGAAGGTAGGC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		14646	0		0	False		,,,				2504	0				p.T429T		.											.	ARHGEF18-228	0			c.G1287A						.						85	59	67					19																	7516148		2203	4300	6503	SO:0001819	synonymous_variant	23370	exon6			GAACACGGAAGGT	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1287G>A	19.37:g.7516148G>A		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	164	5	NM_001130955	0	0	0	0	0	A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	CCDS45946.1																																																																																			.		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		A	7516148	G	A	7516148	2	1	9	1	0	0	0	0	0	0	0	1	901	1103	39	1		1	ARHGEF18	19	7516148	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2698751	7516148	51612835	608	2195											
STXBP2	6813	broad.mit.edu;bcgsc.ca	37	chr19	7708095	7708095	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgattgtatgaagcacttCaagggctcggtggagaagct	14	6	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7708095C>T	ENST00000221283.5	+	13	1102	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	STXBP2_ENST00000414284.2_Silent_p.F354F|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Silent_p.F368F	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	357					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						TGAAGCACTTCAAGGGCTCGG	0.602																																					p.F368F		.											.	STXBP2-91	0			c.C1104T						.						88	73	78					19																	7708095		2203	4300	6503	SO:0001819	synonymous_variant	6813	exon13			GCACTTCAAGGGC	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.1071C>T	19.37:g.7708095C>T		Somatic	52	1		WXS	Illumina GAIIx	Phase_I	86	26	NM_001272034	0	0	36	44	8	B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	CCDS12181.1																																																																																			.		0.602	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		T	7708095	C	T	7708095	2	4	9	1	0	0	0	0	0	0	0	1	15400	825	29	3		3	STXBP2	19	7708095	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	191947	7708095	51420888	609	2196											
LRRC8E	80131	broad.mit.edu	37	chr19	7964190	7964190	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacatccgacagacggtgctGaaagtgtgtaagttcctggc	12	9	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:7964190G>T	ENST00000306708.6	+	3	884	c.783G>T	c.(781-783)ctG>ctT	p.L261L	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	261					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGACGGTGCTGAAAGTGTGTA	0.537																																					p.L261L		.											.	LRRC8E-92	0			c.G783T						.						142	115	124					19																	7964190		2203	4300	6503	SO:0001819	synonymous_variant	80131	exon4			GGTGCTGAAAGTG		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.783G>T	19.37:g.7964190G>T		Somatic	199	1		WXS	Illumina GAIIx	Phase_I	257	10	NM_001268284	0	0	2	5	3	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																			.		0.537	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7964190	G	T	7964190	2	4	9	1	0	0	0	0	0	0	0	1	9060	1277	45	3		3	LRRC8E	19	7964190	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	256095	7964190	51164793	610	2197											
CDC37	11140	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	10503780	10503780	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acggtggggtccatcttgctGatggcgtcctgcagcatctg	14	11	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:10503780G>T	ENST00000222005.2	-	7	1016	c.963C>A	c.(961-963)atC>atA	p.I321I		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	321					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCATCTTGCTGATGGCGTCCT	0.662																																					p.I321I		.											.	CDC37-522	0			c.C963A						.						54	52	52					19																	10503780		2203	4300	6503	SO:0001819	synonymous_variant	11140	exon7			CTTGCTGATGGCG	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.963C>A	19.37:g.10503780G>T		Somatic	56	1		WXS	Illumina GAIIx	Phase_I	70	18	NM_007065	0	0	297	375	78	Q53YA2	Silent	SNP	ENST00000222005.2	37	CCDS12237.1																																																																																			.		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		T	10503780	G	T	10503780	2	4	9	1	0	0	0	0	0	0	0	1	3075	1280	45	3		3	CDC37	19	10503780	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2539590	10503780	48625203	611	2198											
PDE4A	5141	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10574513	10574513	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgacctcagcaaccccacCaagccgctggagctgtaccg	10	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:10574513C>A	ENST00000352831.6	+	14	1898	c.1788C>A	c.(1786-1788)acC>acA	p.T596T	PDE4A_ENST00000380702.2_Silent_p.T574T|PDE4A_ENST00000440014.2_Silent_p.T535T|PDE4A_ENST00000592685.1_Silent_p.T574T|PDE4A_ENST00000344979.3_Silent_p.T357T|PDE4A_ENST00000293683.5_Silent_p.T570T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	596	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCAACCCCACCAAGCCGCTGG	0.622																																					p.T596T		.											.	PDE4A-523	0			c.C1788A						.						99	78	85					19																	10574513		2203	4300	6503	SO:0001819	synonymous_variant	5141	exon14			CCCCACCAAGCCG		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.1788C>A	19.37:g.10574513C>A		Somatic	249	4		WXS	Illumina GAIIx	Phase_I	324	91	NM_001111307	0	0	0	0	0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																			.		0.622	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			A	10574513	C	A	10574513	2	1	9	1	0	0	0	0	0	0	0	1	11678	581	21	3		3	PDE4A	19	10574513	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	70733	10574513	48554470	612	2199											
LPPR2	64748	broad.mit.edu	37	chr19	11472132	11472132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccctgcaaggatgcgGccctctgcgcctacgcggtc	11	18	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:11472132G>T	ENST00000251473.5	+	6	1007	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A186S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CAAGGATGCGGCCCTCTGCGC	0.692																																					p.A211S		.											.	LPPR2-153	0			c.G631T						.						26	29	28					19																	11472132		2199	4277	6476	SO:0001583	missense	0	exon6			GATGCGGCCCTCT																												ENST00000251473.5:c.631G>T	19.37:g.11472132G>T	ENSP00000251473:p.Ala211Ser	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	118	7	NM_022737	0	0	15	17	2		Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	g	33	5.243323	0.95272	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.36	5.36	0.76844	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16166	0.38	0.80722	D	1	P;P	0.45902	0.851;0.868	P;P	0.59012	0.58;0.85	T	0.64415	-0.6413	10	0.02654	T	1	-25.3512	17.8761	0.88825	0.0:0.0:1.0:0.0	.	186;211	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	211	ENSP00000251473:A211S	ENSP00000251473:A211S	A	+	1	0	AC024575.1	11333132	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.161000	0.77505	2.524000	0.85096	0.550000	0.68814	GCC	.		0.692	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			T	11472132	G	T	11472132	3	4	9	1	0	0	0	0	1	0	0	0	8960	1203	42	3	645	3	LPPR2	19	11472132	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	897619	11472132	47656851	613	2200											
CNN1	1264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11657510	11657510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcatcaataagctgcagcCaggctccgtgaagaagatca	9	10	3	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:11657510C>A	ENST00000252456.2	+	3	417	c.206C>A	c.(205-207)cCa>cAa	p.P69Q	CNN1_ENST00000535659.2_Missense_Mutation_p.P19Q|CNN1_ENST00000544952.1_Missense_Mutation_p.P49Q|CNN1_ENST00000592923.1_Missense_Mutation_p.P19Q	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	69	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AAGCTGCAGCCAGGCTCCGTG	0.557																																					p.P69Q		.											.	CNN1-90	0			c.C206A						.						120	105	110					19																	11657510		2203	4300	6503	SO:0001583	missense	1264	exon3			TGCAGCCAGGCTC	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.206C>A	19.37:g.11657510C>A	ENSP00000252456:p.Pro69Gln	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	138	45	NM_001299	0	0	10	10	0	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732244	0.69189	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	D;D;D	0.97378	-4.36;-4.36;-4.36	4.46	4.46	0.54185	Calponin homology domain (5);	0.054211	0.85682	D	0.000000	D	0.98836	0.9607	H	0.95437	3.67	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.99577	1.0972	10	0.87932	D	0	-21.5793	14.6202	0.68579	0.0:1.0:0.0:0.0	.	69	P51911	CNN1_HUMAN	Q	69;19;49	ENSP00000252456:P69Q;ENSP00000442031:P19Q;ENSP00000437470:P49Q	ENSP00000252456:P69Q	P	+	2	0	CNN1	11518510	1.000000	0.71417	0.993000	0.49108	0.599000	0.36880	7.488000	0.81441	2.047000	0.60756	0.543000	0.68304	CCA	.		0.557	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		A	11657510	C	A	11657510	3	1	9	1	0	0	0	0	1	0	0	0	3616	594	21	3	216	3	CNN1	19	11657510	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	185378	11657510	47471473	614	2201											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13409696	13409696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctcgctcggcctcgccCtcccagaacccgggttgctc	10	19	0	1	rs16022	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:13409696C>G	ENST00000360228.5	-	19	2750	c.2751G>C	c.(2749-2751)gaG>gaC	p.E917D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E918D	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	918					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)	p.E918D(3)		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)	CGGCCTCGCCCTCCCAGAACC	0.776													C|||	530	0.105831	0.0605	0.1254	5008	,	,		10618	0.1171		0.1471	False		,,,				2504	0.0992				p.E918D		.											.	CACNA1A-67	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	c.G2754C						.	C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	206,3316		5,196,1560	8	9	8	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2763,2754,2751,2754,2763	1.5	0.9	19	dbSNP_54	8	883,6727		33,817,2955	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	45,45,45,45,45	38,1013,4515	GG,GC,CC		11.6032,5.8489,9.7826	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	921/2267,918/2262,917/2507,918/2264,921/2513	13409696	1089,10043	1761	3805	5566	SO:0001583	missense	773	exon19			CTCGCCCTCCCAG	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.2751G>C	19.37:g.13409696C>G	ENSP00000353362:p.Glu917Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	5	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	247	0.1130952380952381	27	0.054878048780487805	43	0.11878453038674033	69	0.12062937062937062	108	0.1424802110817942	C	2.711	-0.268795	0.05716	0.058489	0.116032	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96265	-3.96	3.79	1.49	0.22878	.	4.032560	0.00550	N	0.000240	T	0.06508	0.0167	N	0.03608	-0.345	0.58432	P	9.99999999995449E-6	B;B;B	0.24963	0.0;0.001;0.115	B;B;B	0.24848	0.001;0.003;0.056	T	0.70303	-0.4909	9	0.30854	T	0.27	.	5.84	0.18629	0.0:0.484:0.3995:0.1165	rs16022;rs3752173	918;921;917	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	917;921;918;918	ENSP00000353362:E917D	ENSP00000317661:E918D	E	-	3	2	CACNA1A	13270696	0.372000	0.25064	0.886000	0.34754	0.118000	0.20060	0.109000	0.15417	0.091000	0.17302	0.462000	0.41574	GAG	C|0.363;G|0.637		0.776	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13409696	C	G	13409696	3	3	9	1	0	0	0	0	1	0	0	0	2545	680	24	3	4987	3	CACNA1A	19	13409696	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1752186	13409696	45719287	615	2202											
ZNF333	84449	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	14815966	14815966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctccaggagccgccttGgtctctgggatgcacggtaa	13	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:14815966G>T	ENST00000292530.6	+	6	498	c.407G>T	c.(406-408)tGg>tTg	p.W136L	ZNF333_ENST00000536363.1_Missense_Mutation_p.W27L|ZNF333_ENST00000601134.1_Missense_Mutation_p.L76F|ZNF333_ENST00000540689.2_Missense_Mutation_p.W136L	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GAGCCGCCTTGGTCTCTGGGA	0.617																																					p.W136L	NSCLC(60;75 1281 16985 25154 29885)	.											.	ZNF333-92	0			c.G407T						.						50	45	46					19																	14815966		2203	4300	6503	SO:0001583	missense	84449	exon6			CGCCTTGGTCTCT		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.407G>T	19.37:g.14815966G>T	ENSP00000292530:p.Trp136Leu	Somatic	53	2		WXS	Illumina GAIIx	Phase_I	94	28	NM_032433	0	0	1	2	1	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478031	0.26511	.	.	ENSG00000160961	ENST00000392987;ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.05925	3.37;5.82;3.39	1.82	1.82	0.25136	.	.	.	.	.	T	0.10121	0.0248	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.994;0.999	D;D	0.79108	0.931;0.992	T	0.32079	-0.9920	9	0.12766	T	0.61	.	7.1574	0.25645	0.0:0.0:1.0:0.0	.	136;136	Q96JL9;Q6P2E6	ZN333_HUMAN;.	L	136;27;136;136	ENSP00000439749:W27L;ENSP00000438130:W136L;ENSP00000292530:W136L	ENSP00000292530:W136L	W	+	2	0	ZNF333	14676966	0.044000	0.20184	0.143000	0.22291	0.066000	0.16364	0.728000	0.26013	1.361000	0.45981	0.591000	0.81541	TGG	.		0.617	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		T	14815966	G	T	14815966	3	4	9	1	0	0	0	0	1	0	0	0	17898	1357	47	3	425	3	ZNF333	19	14815966	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1406270	14815966	44313017	616	2203											
AKAP8	10270	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	15482785	15482785	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttgaattcttcatctcctGagcggaagtcaccagctgcg	9	13	4	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15482785G>T	ENST00000269701.2	-	7	1076	c.1016C>A	c.(1015-1017)tCa>tAa	p.S339*		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	339					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTCATCTCCTGAGCGGAAGTC	0.532																																					p.S339X	GBM(190;1671 2163 3274 27186 30476)	.											.	AKAP8-290	0			c.C1016A						.						81	73	76					19																	15482785		2203	4300	6503	SO:0001587	stop_gained	10270	exon7			TCTCCTGAGCGGA	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1016C>A	19.37:g.15482785G>T	ENSP00000269701:p.Ser339*	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	149	18	NM_005858	0	0	12	13	1		Nonsense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	39	7.515656	0.98332	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	.	.	.	5.44	4.19	0.49359	.	0.368803	0.20210	N	0.096933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-13.9319	12.047	0.53485	0.0974:0.0:0.9026:0.0	.	.	.	.	X	339;88	.	ENSP00000269701:S339X	S	-	2	0	AKAP8	15343785	0.995000	0.38212	0.944000	0.38274	0.908000	0.53690	3.671000	0.54576	2.549000	0.85964	0.563000	0.77884	TCA	.		0.532	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		T	15482785	G	T	15482785	4	4	9	1	0	0	0	0	0	1	0	0	457	1294	45	3	1094	3	AKAP8	19	15482785	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	666819	15482785	43646198	617	2204											
AKAP8L	26993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	15507978	15507978	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccctgcggttccggttgtGatccatggtcttcagatgct	11	12	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15507978G>T	ENST00000397410.5	-	12	1649	c.1519C>A	c.(1519-1521)Cac>Aac	p.H507N	AKAP8L_ENST00000595465.2_Missense_Mutation_p.H446N|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	507						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCGGTTGTGATCCATGGTC	0.557																																					p.H507N		.											.	AKAP8L-1	0			c.C1519A						.						153	162	159					19																	15507978		2040	4194	6234	SO:0001583	missense	26993	exon12			GGTTGTGATCCAT	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1519C>A	19.37:g.15507978G>T	ENSP00000380557:p.His507Asn	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	188	22	NM_014371	0	0	174	203	29	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173924	0.78452	.	.	ENSG00000011243	ENST00000397410	T	0.63255	-0.03	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.71036	2.16	0.43863	D	0.996463	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.81226	-0.1029	10	0.87932	D	0	-24.4434	17.6561	0.88178	0.0:0.0:1.0:0.0	.	446;507	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	N	507	ENSP00000380557:H507N	ENSP00000380557:H507N	H	-	1	0	AKAP8L	15368978	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.085000	0.94083	2.467000	0.83353	0.580000	0.79431	CAC	.		0.557	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		T	15507978	G	T	15507978	3	4	9	1	0	0	0	0	1	0	0	0	458	1290	45	3	433	3	AKAP8L	19	15507978	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	25193	15507978	43621005	618	2205											
CYP4F12	66002	broad.mit.edu;ucsc.edu	37	chr19	15789193	15789193	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatgccaccctgacaccatCcggtctatcaccaatgcctc	5	17	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:15789193C>A	ENST00000550308.1	+	3	701	c.321C>A	c.(319-321)atC>atA	p.I107I	CYP4F12_ENST00000324632.10_Silent_p.I107I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	107					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTGACACCATCCGGTCTATCA	0.557																																					p.I107I		.											.	CYP4F12-95	0			c.C321A						.						124	120	122					19																	15789193		2196	4299	6495	SO:0001819	synonymous_variant	66002	exon3			CACCATCCGGTCT	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.321C>A	19.37:g.15789193C>A		Somatic	126	2		WXS	Illumina GAIIx	Phase_I	188	19	NM_023944	0	0	0	0	0	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																			.		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			A	15789193	C	A	15789193	2	1	9	1	0	0	0	0	0	0	0	1	4196	845	30	3		3	CYP4F12	19	15789193	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	281215	15789193	43339790	619	2206											
CYP4F2	8529	ucsc.edu;bcgsc.ca	37	chr19	16000335	16000335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagagtgcggcgccgctcCtggatgacggcatctgtgaa	17	10	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:16000335C>A	ENST00000221700.6	-	7	911	c.816G>T	c.(814-816)caG>caT	p.Q272H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.Q123H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCGCCGCTCCTGGATGACGG	0.562																																					p.Q272H		.											.	CYP4F2-92	0			c.G816T						.						96	92	94					19																	16000335		2203	4300	6503	SO:0001583	missense	8529	exon7			CCGCTCCTGGATG	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.816G>T	19.37:g.16000335C>A	ENSP00000221700:p.Gln272His	Somatic	298	3		WXS	Illumina GAIIx	Phase_I	398	110	NM_001082	0	0	0	0	0		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	14.33	2.503574	0.44558	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69685	-0.42;-0.42	2.72	0.524	0.17066	.	0.187629	0.35179	U	0.003395	T	0.74199	0.3685	M	0.71920	2.185	0.33062	D	0.534162	P;D	0.56035	0.767;0.974	P;D	0.67900	0.692;0.954	T	0.76313	-0.3005	10	0.66056	D	0.02	.	6.2677	0.20936	0.0:0.7102:0.0:0.2898	.	123;272	B4DV75;P78329	.;CP4F2_HUMAN	H	272;123;123	ENSP00000221700:Q272H;ENSP00000011989:Q123H	ENSP00000011989:Q123H	Q	-	3	2	CYP4F2	15861335	0.986000	0.35501	0.896000	0.35187	0.817000	0.46193	1.027000	0.30115	0.445000	0.26639	0.305000	0.20034	CAG	.		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	16000335	C	A	16000335	3	1	9	1	0	0	0	0	1	0	0	0	4197	680	24	3	774	3	CYP4F2	19	16000335	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	211142	16000335	43128648	620	2207											
ANKLE1	126549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	17394631	17394631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggaacctgtcggcccttGccggcacctgccagtctcca	11	17	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17394631G>T	ENST00000394458.3	+	5	1334	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	ANKLE1_ENST00000594072.1_Missense_Mutation_p.C342F|ANKLE1_ENST00000598347.1_Missense_Mutation_p.C353F|ANKLE1_ENST00000404085.1_Missense_Mutation_p.C375F|ANKLE1_ENST00000433424.2_Missense_Mutation_p.C407F	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	353										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCGGCCCTTGCCGGCACCTG	0.587																																					p.C353F		.											.	.	0			c.G1058T						.						41	41	41					19																	17394631		2203	4300	6503	SO:0001583	missense	126549	exon5			GCCCTTGCCGGCA	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1058G>T	19.37:g.17394631G>T	ENSP00000377971:p.Cys353Phe	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	86	10	NM_152363	0	0	0	0	0	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	0.243	-1.012424	0.02095	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.74106	-0.69;-0.81;-0.65	3.49	-3.4	0.04853	LEM-like domain (1);	3.798300	0.00832	N	0.001670	T	0.57315	0.2045	L	0.27053	0.805	0.09310	N	1	B;B;B;P	0.46277	0.099;0.053;0.012;0.875	B;B;B;B	0.38327	0.019;0.008;0.002;0.271	T	0.56481	-0.7972	10	0.54805	T	0.06	-28.4606	3.9677	0.09439	0.3565:0.3549:0.2886:0.0	.	353;339;353;342	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	F	353;407;375;342;353	ENSP00000384753:C353F;ENSP00000394460:C407F;ENSP00000384008:C375F	ENSP00000377971:C342F	C	+	2	0	ANKLE1	17255631	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.176000	0.16782	-0.145000	0.11294	0.313000	0.20887	TGC	.		0.587	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		T	17394631	G	T	17394631	3	4	9	1	0	0	0	0	1	0	0	0	632	1319	46	3	1076	3	ANKLE1	19	17394631	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1394296	17394631	41734352	621	2208											
SLC27A1	376497	ucsc.edu;bcgsc.ca	37	chr19	17599870	17599870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctgacagtcgtcctcCgcaagaaattctcggccagc	11	13	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17599870C>T	ENST00000252595.7	+	6	1037	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R314C|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R135C|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	314	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTCGTCCTCCGCAAGAAATT	0.627																																					p.R314C		.											.	SLC27A1-226	0			c.C940T						.						71	69	69					19																	17599870		2203	4300	6503	SO:0001583	missense	376497	exon6			GTCCTCCGCAAGA	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.940C>T	19.37:g.17599870C>T	ENSP00000252595:p.Arg314Cys	Somatic	212	10		WXS	Illumina GAIIx	Phase_I	332	151	NM_198580	0	0	2	7	5	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945708	0.73672	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.41400	1.0;1.0	4.25	3.09	0.35607	AMP-dependent synthetase/ligase (1);	0.120488	0.51477	D	0.000094	T	0.67664	0.2917	M	0.91038	3.17	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.73739	-0.3888	10	0.66056	D	0.02	.	10.1478	0.42774	0.2955:0.7045:0.0:0.0	.	135;314;314	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	C	314;314;176	ENSP00000413424:R314C;ENSP00000252595:R314C	ENSP00000252595:R314C	R	+	1	0	SLC27A1	17460870	0.993000	0.37304	0.983000	0.44433	0.983000	0.72400	1.649000	0.37281	1.915000	0.55452	0.491000	0.48974	CGC	.		0.627	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		T	17599870	C	T	17599870	3	4	9	1	0	0	0	0	1	0	0	0	14570	652	23	1	962	1	SLC27A1	19	17599870	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	205239	17599870	41529113	622	2209											
FAM129C	199786	broad.mit.edu	37	chr19	17648324	17648324	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcctggaggctggccctGcagggtggcatccggcttca	15	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:17648324G>T	ENST00000335393.4	+	6	798	c.660G>T	c.(658-660)ctG>ctT	p.L220L	FAM129C_ENST00000595684.1_Silent_p.L220L|FAM129C_ENST00000352727.3_Silent_p.L220L|FAM129C_ENST00000300971.2_Silent_p.L220L|FAM129C_ENST00000600871.1_Silent_p.L166L|FAM129C_ENST00000599164.1_Silent_p.L189L|FAM129C_ENST00000601861.1_Silent_p.L189L|FAM129C_ENST00000599124.1_Silent_p.L189L|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000332386.5_Silent_p.L220L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	220										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCTGGCCCTGCAGGGTGGCA	0.637																																					p.L220L		.											.	FAM129C-90	0			c.G660T						.						37	40	39					19																	17648324		2203	4300	6503	SO:0001819	synonymous_variant	199786	exon6			GGCCCTGCAGGGT	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.660G>T	19.37:g.17648324G>T		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_001098524	0	0	0	0	0	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	CCDS12362.1																																																																																			.		0.637	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		T	17648324	G	T	17648324	2	4	9	1	0	0	0	0	0	0	0	1	5457	1306	46	3		3	FAM129C	19	17648324	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	48454	17648324	41480659	623	2210											
MAST3	23031	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	18241370	18241370	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaagaagatcaacaaacaGaacttgatcctgcgtaacca	6	10	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:18241370G>T	ENST00000262811.6	+	13	1203	c.1203G>T	c.(1201-1203)caG>caT	p.Q401H		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						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						TCAACAAACAGAACTTGATCC	0.567																																					p.Q401H		.											.	MAST3-502	0			c.G1203T						.						90	83	85					19																	18241370		2203	4299	6502	SO:0001583	missense	23031	exon13			CAAACAGAACTTG	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.1203G>T	19.37:g.18241370G>T	ENSP00000262811:p.Gln401His	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	232	25	NM_015016	0	0	2	2	0	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692930	0.48202	.	.	ENSG00000099308	ENST00000262811	T	0.65916	-0.18	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052153	0.85682	D	0.000000	T	0.56630	0.1998	L	0.32530	0.975	0.53688	D	0.999974	B	0.25105	0.118	B	0.31245	0.126	T	0.58973	-0.7541	10	0.66056	D	0.02	-37.8146	17.0135	0.86413	0.0:0.0:1.0:0.0	.	401	O60307	MAST3_HUMAN	H	401	ENSP00000262811:Q401H	ENSP00000262811:Q401H	Q	+	3	2	MAST3	18102370	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.808000	0.47963	2.244000	0.73946	0.561000	0.74099	CAG	.		0.567	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		T	18241370	G	T	18241370	3	4	9	1	0	0	0	0	1	0	0	0	9364	933	33	3	1253	3	MAST3	19	18241370	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	593046	18241370	40887613	624	2211											
ZNF676	163223	hgsc.bcm.edu;broad.mit.edu	37	chr19	22363229	22363229	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaggcttgaggaccagctGaaggctttgccacattcttc	11	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:22363229G>T	ENST00000397121.2	-	3	1607	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	430					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)				AGGACCAGCTGAAGGCTTTGC	0.448																																					p.F430L		.											.	ZNF676-90	0			c.C1290A						.						72	71	71					19																	22363229		2047	4194	6241	SO:0001583	missense	163223	exon3			CCAGCTGAAGGCT	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.1290C>A	19.37:g.22363229G>T	ENSP00000380310:p.Phe430Leu	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	60	8	NM_001001411	0	0	0	0	0	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287733	0.23478	.	.	ENSG00000196109	ENST00000397121	T	0.46063	0.88	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56949	0.2020	M	0.75447	2.3	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.50516	-0.8819	9	0.87932	D	0	.	5.5212	0.16933	0.6007:0.0:0.3993:0.0	.	430	Q8N7Q3	ZN676_HUMAN	L	430	ENSP00000380310:F430L	ENSP00000380310:F430L	F	-	3	2	ZNF676	22155069	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-2.054000	0.01399	-1.122000	0.02945	-1.109000	0.02080	TTC	.		0.448	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363229	G	T	22363229	3	4	9	1	0	0	0	0	1	0	0	0	18131	1281	45	3	480	3	ZNF676	19	22363229	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	4121859	22363229	36765754	625	2212											
ZNF254	9534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	24309378	24309378	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgtgtcaaattattttgCatgctttcacataaaaccca	4	9	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:24309378C>A	ENST00000357002.4	+	4	691	c.576C>A	c.(574-576)tgC>tgA	p.C192*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.C107*	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	192					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)				AATTATTTTGCATGCTTTCAC	0.289																																					p.C192X		.											.	ZNF254-90	0			c.C576A						.						56	63	60					19																	24309378		2203	4290	6493	SO:0001587	stop_gained	9534	exon4			ATTTTGCATGCTT	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.576C>A	19.37:g.24309378C>A	ENSP00000349494:p.Cys192*	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	111	10	NM_203282	0	0	7	8	1	A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561995	0.27915	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	6.2532	0.20859	0.0:0.9997:0.0:3.0E-4	.	.	.	.	X	107;192;192	.	ENSP00000445527:C107X	C	+	3	2	ZNF254	24101218	0.000000	0.05858	0.120000	0.21714	0.128000	0.20619	-0.704000	0.05058	0.308000	0.22923	0.313000	0.20887	TGC	.		0.289	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		A	24309378	C	A	24309378	4	1	9	1	0	0	0	0	0	1	0	0	17846	718	25	3	590	3	ZNF254	19	24309378	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1946149	24309378	34819605	626	2213											
LRP3	4037	hgsc.bcm.edu;broad.mit.edu	37	chr19	33696766	33696766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaatgccacctaccagGtgaagggctattgcctcccc	9	15	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:33696766G>T	ENST00000253193.7	+	5	1292	c.1090G>T	c.(1090-1092)Gtg>Ttg	p.V364L	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	364	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CACCTACCAGGTGAAGGGCTA	0.716																																					p.V364L		.											.	LRP3-92	0			c.G1090T						.						10	12	11					19																	33696766		2171	4227	6398	SO:0001583	missense	4037	exon5			TACCAGGTGAAGG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1090G>T	19.37:g.33696766G>T	ENSP00000253193:p.Val364Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	83	6	NM_002333	0	0	19	27	8	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730308	0.69074	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.50813	0.73	5.28	5.28	0.74379	CUB (4);	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.79926	2.475	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.78314	0.987;0.978;0.991	T	0.69472	-0.5136	10	0.33940	T	0.23	-29.9854	17.8916	0.88874	0.0:0.0:1.0:0.0	.	238;364;282	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	L	238;364	ENSP00000253193:V364L	ENSP00000253193:V364L	V	+	1	0	LRP3	38388606	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.812000	0.99227	2.487000	0.83934	0.305000	0.20034	GTG	.		0.716	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33696766	G	T	33696766	3	4	9	1	0	0	0	0	1	0	0	0	8993	1261	44	3	1108	3	LRP3	19	33696766	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9387388	33696766	25432217	627	2214											
FFAR3	2865	broad.mit.edu;mdanderson.org	37	chr19	35850698	35850698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctctggggccagtggcaGcaggagagcagcatggagct	19	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:35850698G>T	ENST00000327809.4	+	2	1107	c.906G>T	c.(904-906)caG>caT	p.Q302H	FFAR3_ENST00000594310.1_Missense_Mutation_p.Q302H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	302					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)			GCCAGTGGCAGCAGGAGAGCA	0.592																																					p.Q302H	Esophageal Squamous(185;1742 2042 21963 24215 27871)	.											.	FFAR3-90	0			c.G906T						.						23	19	20					19																	35850698		2200	4274	6474	SO:0001583	missense	2865	exon2			GTGGCAGCAGGAG	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.906G>T	19.37:g.35850698G>T	ENSP00000328230:p.Gln302His	Somatic	645	1		WXS	Illumina GAIIx	Phase_I	923	106	NM_005304	0	0	0	0	0	B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	6.941	0.543410	0.13250	.	.	ENSG00000185897	ENST00000327809	T	0.36878	1.23	4.23	1.36	0.22044	.	2.260690	0.02897	U	0.134829	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.25222	-1.0138	10	0.41790	T	0.15	-3.6319	9.3835	0.38329	0.0:0.0:0.4667:0.5333	.	302	O14843	FFAR3_HUMAN	H	302	ENSP00000328230:Q302H	ENSP00000328230:Q302H	Q	+	3	2	FFAR3	40542538	0.000000	0.05858	0.024000	0.17045	0.064000	0.16182	0.365000	0.20348	0.061000	0.16311	0.455000	0.32223	CAG	.		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35850698	G	T	35850698	3	4	9	1	0	0	0	0	1	0	0	0	5851	962	34	3	908	3	FFAR3	19	35850698	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2153932	35850698	23278285	628	2215											
ZFP14	57677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	36831144	36831144	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattaaattccattatgaatCttctgatgctgagtaaggtg	8	5	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:36831144C>A	ENST00000270001.7	-	5	1699	c.1584G>T	c.(1582-1584)aaG>aaT	p.K528N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTATGAATCTTCTGATGCT	0.353																																					p.K528N		.											.	ZFP14-91	0			c.G1584T						.						52	54	54					19																	36831144		2203	4300	6503	SO:0001583	missense	57677	exon5			ATGAATCTTCTGA	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1584G>T	19.37:g.36831144C>A	ENSP00000270001:p.Lys528Asn	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	102	16	NM_020917	0	0	4	4	0	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	11.67	1.709195	0.30322	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.08720	3.06	3.37	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000275	T	0.10508	0.0257	L	0.35593	1.075	0.80722	D	1	P;P	0.49358	0.923;0.858	P;P	0.54499	0.754;0.517	T	0.10823	-1.0613	10	0.72032	D	0.01	.	5.2929	0.15737	0.0:0.3873:0.0:0.6127	.	528;528	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	528	ENSP00000270001:K528N	ENSP00000270001:K528N	K	-	3	2	ZFP14	41522984	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.098000	0.11024	0.233000	0.21120	0.551000	0.68910	AAG	.		0.353	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		A	36831144	C	A	36831144	3	1	9	1	0	0	0	0	1	0	0	0	17687	912	32	3	21	3	ZFP14	19	36831144	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	980446	36831144	22297839	629	2216											
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38573333	38573333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggtgcttcggccgcttcCgccgcctcggccatggcctc	13	18	0	0	rs61729132	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:38573333C>T	ENST00000222345.6	+	3	1637	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	376					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)			CGGCCGCTTCCGCCGCCTCGG	0.687													C|||	5	0.000998403	0.0023	0.0029	5008	,	,		13047	0		0	False		,,,				2504	0				p.S376S		.											.	SIPA1L3-91	0			c.C1128T						.	C		10,4390		0,10,2190	20	21	21		1128	-3.5	0.6	19	dbSNP_129	21	0,8592		0,0,4296	no	coding-synonymous	SIPA1L3	NM_015073.1		0,10,6486	TT,TC,CC		0.0,0.2273,0.077		376/1782	38573333	10,12982	2200	4296	6496	SO:0001819	synonymous_variant	23094	exon3			CGCTTCCGCCGCC	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.1128C>T	19.37:g.38573333C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	65	35	NM_015073	0	0	1	1	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			C|0.998;T|0.002		0.687	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38573333	C	T	38573333	2	4	9	1	0	0	0	0	0	0	0	1	14376	639	23	1		1	SIPA1L3	19	38573333	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1742189	38573333	20555650	630	2217											
CATSPERG	57828	bcgsc.ca;mdanderson.org	37	chr19	38858328	38858328	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtccctggtagctatgttCtgctggtggtgggtggcggg	18	8	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:38858328C>A	ENST00000409235.3	+	25	2957	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L908M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	948					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TAGCTATGTTCTGCTGGTGGT	0.602																																					p.L948M		.											.	CATSPERG-92	0			c.C2842A						.						264	285	278					19																	38858328		2203	4300	6503	SO:0001583	missense	57828	exon25			TATGTTCTGCTGG	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2842C>A	19.37:g.38858328C>A	ENSP00000386962:p.Leu948Met	Somatic	101	4		WXS	Illumina GAIIx	Phase_I	188	78	NM_021185	0	0	0	0	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762301	0.31228	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.35048	1.33;1.33	3.99	1.71	0.24356	.	0.000000	0.32563	N	0.005938	T	0.40670	0.1126	L	0.36672	1.1	0.80722	D	1	P;D	0.76494	0.94;0.999	P;D	0.66979	0.638;0.948	T	0.28933	-1.0028	10	0.72032	D	0.01	-11.9421	4.7787	0.13192	0.2117:0.6716:0.0:0.1167	.	948;908	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	908;948;948	ENSP00000387057:L908M;ENSP00000386962:L948M	ENSP00000386962:L948M	L	+	1	2	CATSPERG	43550168	0.641000	0.27251	0.936000	0.37596	0.025000	0.11179	0.872000	0.28037	0.830000	0.34757	0.484000	0.47621	CTG	.		0.602	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		A	38858328	C	A	38858328	3	1	9	1	0	0	0	0	1	0	0	0	2699	912	32	3	2936	3	CATSPERG	19	38858328	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	284995	38858328	20270655	631	2218											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P|SARS2_ENST00000448145.2_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	9	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	9	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	582590	39440918	19688065	632	2219											
CYP2B6	1555	broad.mit.edu;ucsc.edu	37	chr19	41518259	41518259	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacatcgccctccagagcttCatgaccgagccaaaatgcca	7	16	1	2	rs138030127	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:41518259C>A	ENST00000324071.4	+	7	1028	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N	CYP2B6_ENST00000330446.5_Missense_Mutation_p.H141N|CYP2B6_ENST00000593831.1_Missense_Mutation_p.H105N	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	341					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCCAGAGCTTCATGACCGAGC	0.478																																					p.H341N		.											.	CYP2B6-92	0			c.C1021A						.						99	78	85					19																	41518259		2203	4300	6503	SO:0001583	missense	1555	exon7			GAGCTTCATGACC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1021C>A	19.37:g.41518259C>A	ENSP00000324648:p.His341Asn	Somatic	74	2		WXS	Illumina GAIIx	Phase_I	126	16	NM_000767	0	0	0	0	0	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	4.596	0.110686	0.08780	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.67171	5.15;-0.25	4.3	0.833	0.18875	.	0.246095	0.39615	N	0.001305	T	0.32615	0.0835	N	0.01493	-0.835	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30909	-0.9962	10	0.72032	D	0.01	.	5.1785	0.15148	0.2209:0.1807:0.5984:0.0	.	141;341	B4DWP3;P20813	.;CP2B6_HUMAN	N	341;141	ENSP00000324648:H341N;ENSP00000330650:H141N	ENSP00000324648:H341N	H	+	1	0	CYP2B6	46210099	0.045000	0.20229	0.007000	0.13788	0.116000	0.19942	2.032000	0.41127	0.457000	0.26962	-0.759000	0.03464	CAT	C|0.999;G|0.001		0.478	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		A	41518259	C	A	41518259	3	1	9	1	0	0	0	0	1	0	0	0	4173	826	29	3	1047	3	CYP2B6	19	41518259	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2077341	41518259	17610724	633	2220											
ARHGEF1	9138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42410903	42410903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccctcctgtctcagcttGgggggaactctgtcccccag	11	16	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:42410903G>T	ENST00000354532.3	+	28	2852	c.2704G>T	c.(2704-2706)Ggg>Tgg	p.G902W	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G917W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.W829L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G869W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.G958W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	902					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTCTCAGCTTGGGGGGAACTC	0.667																																					p.G917W		.											.	ARHGEF1-293	0			c.G2749T						.						38	35	36					19																	42410903		2203	4300	6503	SO:0001583	missense	9138	exon28			CAGCTTGGGGGGA	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2704G>T	19.37:g.42410903G>T	ENSP00000346532:p.Gly902Trp	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	137	31	NM_199002	0	0	30	37	7	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.809744|2.809744	0.50421|0.50421	.|.	.|.	ENSG00000076928|ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665|ENST00000378152	T;T;T|T	0.70869|0.67523	-0.51;-0.45;-0.52|-0.27	4.09|4.09	-0.024|-0.024	0.13941|0.13941	.|.	.|2.190990	.|0.02215	.|N	.|0.063485	T|T	0.50103|0.50103	0.1596|0.1596	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D;D|B	0.61697|0.17667	0.99;0.99;0.983|0.023	P;P;P|B	0.59171|0.11329	0.797;0.853;0.632|0.006	T|T	0.42447|0.42447	-0.9451|-0.9451	9|10	0.87932|0.62326	D|D	0|0.03	7.7225|7.7225	2.8802|2.8802	0.05645|0.05645	0.3269:0.2396:0.4335:0.0|0.3269:0.2396:0.4335:0.0	.|.	917;869;902|829	Q92888-3;Q92888-2;Q92888|Q6NX52	.;.;ARHG1_HUMAN|.	W|L	902;869;917|829	ENSP00000346532:G902W;ENSP00000344429:G869W;ENSP00000337261:G917W|ENSP00000367394:W829L	ENSP00000337261:G917W|ENSP00000367394:W829L	G|W	+|+	1|2	0|0	ARHGEF1|ARHGEF1	47102743|47102743	0.563000|0.563000	0.26594|0.26594	0.422000|0.422000	0.26621|0.26621	0.927000|0.927000	0.56198|0.56198	0.784000|0.784000	0.26816|0.26816	0.285000|0.285000	0.22329|0.22329	0.485000|0.485000	0.47835|0.47835	GGG|TGG	.		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		T	42410903	G	T	42410903	3	4	9	1	0	0	0	0	1	0	0	0	893	1348	47	3	2859	3	ARHGEF1	19	42410903	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	892644	42410903	16718080	634	2221											
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42907077	42907078	+	Frame_Shift_Ins	INS	-	-	C													ccgacgacgtctcggagtttINScccctcaggctcaagtccct							TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:42907077_42907078insC	ENST00000244289.4	-	9	2924_2925	c.2648_2649insG	c.(2647-2649)ggafs	p.G883fs	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	883					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTCGGAGTTTCCCCTCAGGCT	0.609																																					p.G883fs		.											.	LIPE-154	0			c.2649_2650insG						.																																			SO:0001589	frameshift_variant	3991	exon9			GGAGTTTCCCCTC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2649dupG	19.37:g.42907081_42907081dupC	ENSP00000244289:p.Gly883fs	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	39	20	NM_005357	0	0	0	0	0	Q3LRT2|Q6NSL7	Frame_Shift_Ins	INS	ENST00000244289.4	37	CCDS12607.1																																																																																			.		0.609	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		C	42907078	-	C	42907077	7	5	9	1	0	1	1	0	0	0	0	0	8851	1770	62	0	589	0	LIPE	19	42907077	Frame_Shift_Ins	INS	-	TCGA-OR-A5JA-01A-11D-A29I-10	496174	42907077	16221906	635	2222											
CKM	1158	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	45822926	45822926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggggtactcctcctcagGcttgtaattcagcttgaact	10	11	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:45822926G>T	ENST00000221476.3	-	2	220	c.46C>A	c.(46-48)Cct>Act	p.P16T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	16	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTCCTCAGGCTTGTAATTC	0.522																																					p.P16T		.											.	CKM-91	0			c.C46A						.						283	239	254					19																	45822926		2203	4300	6503	SO:0001583	missense	1158	exon2			CCTCAGGCTTGTA	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.46C>A	19.37:g.45822926G>T	ENSP00000221476:p.Pro16Thr	Somatic	283	1		WXS	Illumina GAIIx	Phase_I	372	106	NM_001824	0	0	0	0	0	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830321	0.16749	.	.	ENSG00000104879	ENST00000221476	T	0.63255	-0.03	4.69	-3.81	0.04294	ATP:guanido phosphotransferase, N-terminal (3);	0.437004	0.24759	N	0.035839	T	0.52256	0.1723	M	0.78456	2.415	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.42716	-0.9435	10	0.33940	T	0.23	-0.8011	5.2557	0.15546	0.4199:0.2584:0.3217:0.0	.	16	P06732	KCRM_HUMAN	T	16	ENSP00000221476:P16T	ENSP00000221476:P16T	P	-	1	0	CKM	50514766	0.000000	0.05858	0.086000	0.20670	0.599000	0.36880	-0.228000	0.09114	-0.793000	0.04475	-0.165000	0.13383	CCT	.		0.522	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			T	45822926	G	T	45822926	3	4	9	1	0	0	0	0	1	0	0	0	3455	1203	42	3	1127	3	CKM	19	45822926	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2915849	45822926	13306057	636	2223											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_000960	0	0	0	2	2		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	9	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1304398	47127324	12001659	637	2224											
RASIP1	54922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49227597	49227597	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgaccaggagtcaccttGagcagggaagtgcggggcac	16	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49227597G>T	ENST00000222145.4	-	10	2745	c.2541C>A	c.(2539-2541)ctC>ctA	p.L847L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	847	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GAGTCACCTTGAGCAGGGAAG	0.582																																					p.L847L		.											.	RASIP1-228	0			c.C2541A						.						69	63	65					19																	49227597		2203	4300	6503	SO:0001819	synonymous_variant	54922	exon10			CACCTTGAGCAGG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2541C>A	19.37:g.49227597G>T		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	189	51	NM_017805	0	0	0	1	1	Q6U676	Silent	SNP	ENST00000222145.4	37	CCDS12731.1																																																																																			.		0.582	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		T	49227597	G	T	49227597	2	4	9	1	0	0	0	0	0	0	0	1	13123	1277	45	3		3	RASIP1	19	49227597	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2100273	49227597	9901386	638	2225											
KCNA7	3743	hgsc.bcm.edu	37	chr19	49575618	49575618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggccgccgcagccgcccAccggactggtagtagtagag	15	15	0	1	rs71352730	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49575618A>G	ENST00000221444.1	-	1	580	c.225T>C	c.(223-225)ggT>ggC	p.G75G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	75					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GCAGCCGCCCACCGGACTGGT	0.731													a|||	708	0.141374	0.2837	0.1398	5008	,	,		7174	0.0486		0.0875	False		,,,				2504	0.1012				p.G75G	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7-90	0			c.T225C						.			790,3356		66,658,1349	9	12	11		225	-0.4	1	19	dbSNP_130	11	613,7491		29,555,3468	no	coding-synonymous	KCNA7	NM_031886.2		95,1213,4817	GG,GA,AA		7.5642,19.0545,11.4531		75/457	49575618	1403,10847	2073	4052	6125	SO:0001819	synonymous_variant	3743	exon1			CCGCCCACCGGAC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.225T>C	19.37:g.49575618A>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	32	14	NM_031886	0	0	0	0	0	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			A|0.868;G|0.132		0.731	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		G	49575618	A	G	49575618	2	3	9	1	0	0	0	0	0	0	0	1	8035	146	6	4		4	KCNA7	19	49575618	Silent	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	348021	49575618	9553365	639	2226											
SLC6A16	28968	broad.mit.edu;bcgsc.ca	37	chr19	49793931	49793931	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatcatggtcacaaagatGattagcagcacaactggaca	8	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:49793931G>T	ENST00000335875.4	-	11	2113	c.1872C>A	c.(1870-1872)atC>atA	p.I624I	SLC6A16_ENST00000454748.3_Silent_p.I624I	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	624					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TCACAAAGATGATTAGCAGCA	0.542																																					p.I624I		.											.	SLC6A16-94	0			c.C1872A						.						49	49	49					19																	49793931		1988	4169	6157	SO:0001819	synonymous_variant	28968	exon11			AAAGATGATTAGC	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1872C>A	19.37:g.49793931G>T		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	193	14	NM_014037	0	0	0	0	0	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																			.		0.542	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		T	49793931	G	T	49793931	2	4	9	1	0	0	0	0	0	0	0	1	14724	1280	45	3		3	SLC6A16	19	49793931	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	218313	49793931	9335052	640	2227											
SCAF1	58506	broad.mit.edu;bcgsc.ca	37	chr19	50157655	50157655	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccaacctggcgagccgagcGaaggcccaggagctgatcca	14	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:50157655G>T	ENST00000360565.3	+	8	3490	c.3366G>T	c.(3364-3366)gcG>gcT	p.A1122A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1122					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGCCGAGCGAAGGCCCAGG	0.597																																					p.A1122A		.											.	SCAF1-68	0			c.G3366T						.						29	28	28					19																	50157655		2202	4298	6500	SO:0001819	synonymous_variant	58506	exon8			CCGAGCGAAGGCC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3366G>T	19.37:g.50157655G>T		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	230	10	NM_021228	1	0	104	110	5	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																			.		0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50157655	G	T	50157655	2	4	9	1	0	0	0	0	0	0	0	1	13913	1045	37	2		2	SCAF1	19	50157655	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	363724	50157655	8971328	641	2228											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	9	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	857749	51015404	8113579	642	2229											
NKG7	4818	hgsc.bcm.edu;broad.mit.edu	37	chr19	51875493	51875493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagcaggacaggaccaGgaagctcacggacaccaggg	17	10	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:51875493G>T	ENST00000221978.5	-	2	405	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	NKG7_ENST00000595217.1_Intron|NKG7_ENST00000600427.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	76						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACAGGACCAGGAAGCTCACG	0.607																																					p.L76M		.											.	NKG7-90	0			c.C226A						.						142	134	137					19																	51875493		2203	4300	6503	SO:0001583	missense	4818	exon2			GGACCAGGAAGCT		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.226C>A	19.37:g.51875493G>T	ENSP00000221978:p.Leu76Met	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	98	5	NM_005601	0	0	1	1	0		Missense_Mutation	SNP	ENST00000221978.5	37	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206181	0.58343	.	.	ENSG00000105374	ENST00000221978	T	0.07567	3.18	5.12	4.08	0.47627	.	0.206655	0.24490	N	0.038070	T	0.16300	0.0392	M	0.66939	2.045	0.27595	N	0.94915	D	0.56521	0.976	P	0.51918	0.684	T	0.04386	-1.0955	10	0.34782	T	0.22	-12.338	10.9192	0.47154	0.0:0.0:0.8131:0.1869	.	76	Q16617	NKG7_HUMAN	M	76	ENSP00000221978:L76M	ENSP00000221978:L76M	L	-	1	2	NKG7	56567305	0.914000	0.31030	0.962000	0.40283	0.696000	0.40369	2.240000	0.43088	1.380000	0.46344	0.491000	0.48974	CTG	.		0.607	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		T	51875493	G	T	51875493	3	4	9	1	0	0	0	0	1	0	0	0	10482	991	35	3	283	3	NKG7	19	51875493	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	860089	51875493	7253490	643	2230											
ZNF880	400713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	52888417	52888417	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaatgaatgtggcaaggtCttcagccacaagttatacct	9	9	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:52888417C>A	ENST00000422689.2	+	4	1599	c.1584C>A	c.(1582-1584)gtC>gtA	p.V528V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	528					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GTGGCAAGGTCTTCAGCCACA	0.393																																					p.V528V		.											.	.	0			c.C1584A						.						60	55	57					19																	52888417		692	1591	2283	SO:0001819	synonymous_variant	400713	exon4			CAAGGTCTTCAGC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1584C>A	19.37:g.52888417C>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	180	17	NM_001145434	0	0	21	23	2	B4DNA6	Silent	SNP	ENST00000422689.2	37	CCDS46164.1																																																																																			.		0.393	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		A	52888417	C	A	52888417	2	1	9	1	0	0	0	0	0	0	0	1	18245	900	32	3		3	ZNF880	19	52888417	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1012924	52888417	6240566	644	2231											
CNOT3	4849	ucsc.edu;bcgsc.ca	37	chr19	54656063	54656063	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcacctgaccgagcgagGtgagggacccaggatggtgg	18	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54656063G>A	ENST00000406403.1	+	13	3308		c.e13+1		CNOT3_ENST00000358389.3_Splice_Site|CNOT3_ENST00000496327.1_Splice_Site|CNOT3_ENST00000221232.5_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						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)					ACCGAGCGAGGTGAGGGACCC	0.672																																					.		.											.	CNOT3-93	0			c.1705+1G>A						.						62	63	62					19																	54656063		2203	4300	6503	SO:0001630	splice_region_variant	4849	exon14			AGCGAGGTGAGGG	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.1705+1G>A	19.37:g.54656063G>A		Somatic	167	3		WXS	Illumina GAIIx	Phase_I	268	33	NM_014516	0	0	1	3	2	Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019095	0.75275	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403;ENST00000457463	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7333	0.77822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT3	59347875	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.376000	0.90138	2.056000	0.61249	0.655000	0.94253	.	.		0.672	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	Intron	A	54656063	G	A	54656063	5	1	9	1	0	0	0	0	0	0	1	0	3627	1275	44	3	1756	3	CNOT3	19	54656063	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1767646	54656063	4472920	645	2232											
RPS9	6203	broad.mit.edu	37	chr19	54705408	54705408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtcaaatttaccctgGccaagatccgcaaggccgcc	12	13	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54705408G>T	ENST00000302907.4	+	3	323	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	RPS9_ENST00000391751.3_Missense_Mutation_p.A51S|RPS9_ENST00000441429.1_Missense_Mutation_p.A51S|RPS9_ENST00000391752.1_Missense_Mutation_p.A51S|RPS9_ENST00000402367.1_Missense_Mutation_p.A51S|RPS9_ENST00000391753.2_Missense_Mutation_p.A51S|AC012314.20_ENST00000426213.1_RNA	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	51					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATTTACCCTGGCCAAGATCCG	0.602																																					p.A51S		.											.	RPS9-153	0			c.G151T						.						38	36	37					19																	54705408		2203	4300	6503	SO:0001583	missense	6203	exon3			ACCCTGGCCAAGA	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.151G>T	19.37:g.54705408G>T	ENSP00000302896:p.Ala51Ser	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	107	4	NM_001013	1	2	1903	1906	0	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041628	0.55003	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.51	4.51	0.55191	Ribosomal protein S4/S9, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	N	0.16130	0.375	0.80722	D	1	B;B;P;B	0.39551	0.005;0.005;0.678;0.005	B;B;P;B	0.48815	0.04;0.072;0.591;0.055	T	0.04752	-1.0929	10	0.05525	T	0.97	-25.8805	15.5125	0.75795	0.0:0.0:1.0:0.0	.	51;51;51;51	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	S	51	ENSP00000302896:A51S;ENSP00000375632:A51S;ENSP00000383937:A51S;ENSP00000375631:A51S;ENSP00000375633:A51S;ENSP00000414314:A51S	ENSP00000302896:A51S	A	+	1	0	RPS9	59397220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.874000	0.92363	2.459000	0.83118	0.462000	0.41574	GCC	.		0.602	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		T	54705408	G	T	54705408	3	4	9	1	0	0	0	0	1	0	0	0	13707	1203	42	3	157	3	RPS9	19	54705408	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	49345	54705408	4423575	646	2233											
LILRA3	11026	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54803031	54803031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgggaccaggagccCcaggagatcactgggtagag	14	12	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:54803031C>A	ENST00000251390.3	-	4	737	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	LILRA3_ENST00000391745.1_Missense_Mutation_p.G233W|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	216	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCAGGAGCCCCAGGAGATCA	0.627																																					p.G216W		.											.	LILRA3-91	0			c.G646T						.						96	87	90					19																	54803031		2194	4159	6353	SO:0001583	missense	11026	exon4			GGAGCCCCAGGAG	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.646G>T	19.37:g.54803031C>A	ENSP00000251390:p.Gly216Trp	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	228	29	NM_006865	0	0	2	2	0	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799216	0.31869	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00730	5.77;5.77	2.21	-0.302	0.12796	Immunoglobulin-like fold (1);	0.537818	0.16855	N	0.196789	T	0.00724	0.0024	N	0.03608	-0.345	0.09310	N	1	P	0.42556	0.783	P	0.50378	0.639	T	0.55289	-0.8164	10	0.87932	D	0	.	7.7462	0.28871	0.0:0.4817:0.5183:0.0	.	216	Q8N6C8	LIRA3_HUMAN	W	216;233	ENSP00000251390:G216W;ENSP00000375625:G233W	ENSP00000251390:G216W	G	-	1	0	LILRA3	59494843	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.353000	0.07691	0.031000	0.15407	0.586000	0.80456	GGG	.		0.627	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54803031	C	A	54803031	3	1	9	1	0	0	0	0	1	0	0	0	8815	623	22	3	689	3	LILRA3	19	54803031	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	97623	54803031	4325952	647	2234											
SYT5	6861	hgsc.bcm.edu	37	chr19	55684927	55684927	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgggccgccgcgggttGgccagcatgtccgcccagtg	16	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:55684927G>T	ENST00000354308.3	-	9	1455	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	SYT5_ENST00000537500.1_Silent_p.A362A|SYT5_ENST00000590851.1_Silent_p.A358A|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	362					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCCGCGGGTTGGCCAGCATGT	0.746																																					p.A362A		.											.	SYT5-90	0			c.C1086A						.						4	5	5					19																	55684927		1922	3697	5619	SO:0001819	synonymous_variant	6861	exon9			CGGGTTGGCCAGC	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.1086C>A	19.37:g.55684927G>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_003180	0	0	0	0	0	B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	CCDS12919.1																																																																																			.		0.746	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		T	55684927	G	T	55684927	2	4	9	1	0	0	0	0	0	0	0	1	15524	1335	47	3		3	SYT5	19	55684927	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	881896	55684927	3444056	648	2235											
NLRP13	126204	broad.mit.edu	37	chr19	56410249	56410249	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcacattatgattatggctGagggcattagccagctctcc	9	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56410249G>T	ENST00000342929.3	-	10	2843	c.2844C>A	c.(2842-2844)ctC>ctA	p.L948L	NLRP13_ENST00000588751.1_Silent_p.L948L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	948							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTATGGCTGAGGGCATTAG	0.438																																					p.L948L		.											.	NLRP13-211	0			c.C2844A						.						144	127	133					19																	56410249		2203	4300	6503	SO:0001819	synonymous_variant	126204	exon10			ATGGCTGAGGGCA	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2844C>A	19.37:g.56410249G>T		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	125	5	NM_176810	0	0	0	0	0	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																			.		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		T	56410249	G	T	56410249	2	4	9	1	0	0	0	0	0	0	0	1	10514	1277	45	3		3	NLRP13	19	56410249	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	725322	56410249	2718734	649	2236											
ZNF667	63934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56952598	56952598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactccgactatatgccttcCcacatttactacattcatag	3	13	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:56952598C>A	ENST00000504904.3	-	7	2485	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	ZNF667_ENST00000342634.3_Missense_Mutation_p.G717V|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.G589V			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATATGCCTTCCCACATTTACT	0.383																																					p.G589V		.											.	ZNF667-91	0			c.G1766T						.						121	116	118					19																	56952598		2203	4300	6503	SO:0001583	missense	63934	exon5			GCCTTCCCACATT		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1766G>T	19.37:g.56952598C>A	ENSP00000439402:p.Gly589Val	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	111	27	NM_022103	0	0	7	13	6	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348114	0.41599	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.66460	-0.21;-0.21;-0.21	4.98	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165528	0.28889	N	0.013816	T	0.81692	0.4876	M	0.94063	3.49	0.54753	D	0.99998	D;D	0.69078	0.997;0.997	D;P	0.65140	0.932;0.902	T	0.81562	-0.0876	10	0.87932	D	0	-3.1773	7.1238	0.25461	0.0:0.7127:0.0:0.2873	.	717;589	E7EPS0;Q5HYK9	.;ZN667_HUMAN	V	717;589;589;371;304	ENSP00000344699:G717V;ENSP00000439402:G589V;ENSP00000292069:G589V	ENSP00000292069:G589V	G	-	2	0	ZNF667	61644410	0.089000	0.21612	0.713000	0.30519	0.488000	0.33401	1.504000	0.35726	0.698000	0.31739	-0.251000	0.11542	GGG	.		0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		A	56952598	C	A	56952598	3	1	9	1	0	0	0	0	1	0	0	0	18122	623	22	3	70	3	ZNF667	19	56952598	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	542349	56952598	2176385	650	2237											
ZNF835	90485	hgsc.bcm.edu	37	chr19	57175988	57175988	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagtcggcgcagcggtgCggcttctcgcccgtgtgcgt	16	15	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:57175988C>A	ENST00000537055.2	-	2	810	c.579G>T	c.(577-579)ccG>ccT	p.P193P		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCAGCGGTGCGGCTTCTCGC	0.726																																					p.P193P		.											.	ZNF835-72	0			c.G579T						.						11	13	12					19																	57175988		2191	4259	6450	SO:0001819	synonymous_variant	90485	exon2			GCGGTGCGGCTTC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.579G>T	19.37:g.57175988C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	55	33	NM_001005850	0	0	0	0	0	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			.		0.726	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		A	57175988	C	A	57175988	2	1	9	1	0	0	0	0	0	0	0	1	18234	755	27	2		2	ZNF835	19	57175988	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	223390	57175988	1952995	651	2238											
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	58004403	58004403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctatcagagaagtccttgCaaagcagggaggttgggaag	14	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58004403C>A	ENST00000221735.7	+	5	664	c.478C>A	c.(478-480)Caa>Aaa	p.Q160K	ZNF419_ENST00000347466.6_Missense_Mutation_p.Q128K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.Q114K|ZNF419_ENST00000442920.2_Missense_Mutation_p.Q147K|ZNF419_ENST00000354197.4_Missense_Mutation_p.Q148K|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q148K|ZNF419_ENST00000424930.2_Missense_Mutation_p.Q161K			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAGTCCTTGCAAAGCAGGGA	0.507																																					p.Q161K		.											.	ZNF419-90	0			c.C481A						.						49	52	51					19																	58004403		2201	4300	6501	SO:0001583	missense	79744	exon5			TCCTTGCAAAGCA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.478C>A	19.37:g.58004403C>A	ENSP00000221735:p.Gln160Lys	Somatic	291	0		WXS	Illumina GAIIx	Phase_I	448	43	NM_001098491	0	0	6	8	2	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.253947|2.253947	0.39896|0.39896	.|.	.|.	ENSG00000105136|ENSG00000105136	ENST00000427558|ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000521754;ENST00000221735;ENST00000521137	.|T;T;T;T;T;T;T;T;T	.|0.13420	.|2.59;2.59;2.59;2.59;2.59;2.59;5.63;2.59;2.59	1.95|1.95	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.00996|0.00996	-1.065|-1.065	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P;P	.|0.49447	.|0.458;0.713;0.924;0.634;0.458;0.73;0.713	.|P;P;P;B;P;B;P	.|0.62298	.|0.678;0.678;0.9;0.117;0.678;0.28;0.678	T|T	0.14727|0.14727	-1.0462|-1.0462	6|9	0.30854|0.06365	T|T	0.27|0.9	.|.	1.6819|1.6819	0.02833|0.02833	0.2023:0.4487:0.2003:0.1487|0.2023:0.4487:0.2003:0.1487	.|.	.|114;114;147;148;161;128;160	.|E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.|.;.;.;.;.;.;ZN419_HUMAN	E|K	91|163;161;148;148;147;161;128;114;115;160;127	.|ENSP00000388864:Q161K;ENSP00000390916:Q148K;ENSP00000346136:Q148K;ENSP00000414709:Q147K;ENSP00000299860:Q128K;ENSP00000392129:Q114K;ENSP00000428523:Q115K;ENSP00000221735:Q160K;ENSP00000429628:Q127K	ENSP00000415213:A91E|ENSP00000221735:Q160K	A|Q	+|+	2|1	0|0	ZNF419|ZNF419	62696215|62696215	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.195000|0.195000	0.23768|0.23768	-2.609000|-2.609000	0.00886|0.00886	-0.318000|-0.318000	0.08665|0.08665	0.205000|0.205000	0.17691|0.17691	GCA|CAA	.		0.507	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		A	58004403	C	A	58004403	3	1	9	1	0	0	0	0	1	0	0	0	17944	711	25	3	499	3	ZNF419	19	58004403	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	828415	58004403	1124580	652	2239											
ZNF814	730051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58384936	58384936	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actaaaagatttcccacattCtccacactcataaggcctct	3	14	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58384936C>A	ENST00000435989.2	-	3	2056	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	608					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCCCACATTCTCCACACTCA	0.468																																					p.E608X		.											.	.	0			c.G1822T						.						85	71	75					19																	58384936		692	1591	2283	SO:0001587	stop_gained	730051	exon3			CACATTCTCCACA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1822G>T	19.37:g.58384936C>A	ENSP00000410545:p.Glu608*	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	116	31	NM_001144989	0	0	2	5	3	A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	39	7.415334	0.98269	.	.	ENSG00000204514	ENST00000435989	.	.	.	2.18	-0.492	0.12041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.0565	0.19815	0.0:0.6704:0.1934:0.1362	.	.	.	.	X	608	.	ENSP00000410545:E608X	E	-	1	0	ZNF814	63076748	0.000000	0.05858	0.020000	0.16555	0.746000	0.42486	-0.647000	0.05397	0.267000	0.21916	0.305000	0.20034	GAA	.		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58384936	C	A	58384936	4	1	9	1	0	0	0	0	0	1	0	0	18224	922	32	3	749	3	ZNF814	19	58384936	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	380533	58384936	744047	653	2240											
C19orf18	147685	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58485719	58485719	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagtgggatggagtccatCtgcatacggcaagcataaat	11	9	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58485719C>A	ENST00000314391.3	-	1	183	c.82G>T	c.(82-84)Gat>Tat	p.D28Y		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	28						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		TGGAGTCCATCTGCATACGGC	0.413																																					p.D28Y		.											.	C19orf18-91	0			c.G82T						.						130	123	126					19																	58485719		2203	4300	6503	SO:0001583	missense	147685	exon1			GTCCATCTGCATA	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.82G>T	19.37:g.58485719C>A	ENSP00000321519:p.Asp28Tyr	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	138	32	NM_152474	0	0	0	0	0		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856458	0.17106	.	.	ENSG00000177025	ENST00000314391	T	0.59224	0.28	4.29	3.23	0.37069	.	0.906704	0.09119	N	0.845962	T	0.54498	0.1862	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.42799	-0.9430	10	0.66056	D	0.02	-1.3103	6.9828	0.24711	0.0:0.8674:0.0:0.1326	.	28	Q8NEA5	CS018_HUMAN	Y	28	ENSP00000321519:D28Y	ENSP00000321519:D28Y	D	-	1	0	C19orf18	63177531	0.008000	0.16893	0.046000	0.18839	0.003000	0.03518	0.581000	0.23819	1.312000	0.45043	0.655000	0.94253	GAT	.		0.413	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		A	58485719	C	A	58485719	3	1	9	1	0	0	0	0	1	0	0	0	1917	913	32	3	589	3	C19orf18	19	58485719	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	100783	58485719	643264	654	2241											
RPS5	6193	broad.mit.edu;bcgsc.ca	37	chr19	58905869	58905869	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgctgtcttcctaggccatCtggctgctgtgcacaggcgc	12	14	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58905869C>A	ENST00000596046.1	+	4	1302	c.453C>A	c.(451-453)atC>atA	p.I151I	RPS5_ENST00000598098.1_Silent_p.I81I|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000601521.1_Silent_p.I151I|RPS5_ENST00000196551.3_Silent_p.I151I|RPS5_ENST00000598495.1_Silent_p.I172I			P46782	RS5_HUMAN	ribosomal protein S5	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CCTAGGCCATCTGGCTGCTGT	0.602																																					p.I151I		.											.	RPS5-90	0			c.C453A						.						45	45	45					19																	58905869		2203	4299	6502	SO:0001819	synonymous_variant	6193	exon5			GGCCATCTGGCTG	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.453C>A	19.37:g.58905869C>A		Somatic	203	1		WXS	Illumina GAIIx	Phase_I	247	15	NM_001009	0	0	2	2	0	B2R4T2|Q96BN0	Silent	SNP	ENST00000596046.1	37	CCDS12978.1																																																																																			.		0.602	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		A	58905869	C	A	58905869	2	1	9	1	0	0	0	0	0	0	0	1	13693	903	32	3		3	RPS5	19	58905869	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	420150	58905869	223114	655	2242											
ZNF584	201514	bcgsc.ca	37	chr19	58929136	58929136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagggcacatgggaaGgtcgttagctgctagcaccg	16	9	0	0	rs3764534	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr19:58929136G>T	ENST00000306910.4	+	4	1774	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000593920.1_Missense_Mutation_p.K372N	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CACATGGGAAGGTCGTTAGCT	0.512																																					p.K417N		.											.	ZNF584-90	0			c.G1251T						.						80	81	81					19																	58929136		2203	4300	6503	SO:0001583	missense	201514	exon4			TGGGAAGGTCGTT	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.1251G>T	19.37:g.58929136G>T	ENSP00000306756:p.Lys417Asn	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	258	24	NM_173548	0	0	39	44	5	A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903410	0.52333	.	.	ENSG00000171574	ENST00000306910	T	0.06933	3.24	4.64	-0.234	0.13074	.	.	.	.	.	T	0.11707	0.0285	M	0.82923	2.615	0.58432	P	1.0000000000287557E-6	B	0.14805	0.011	B	0.12156	0.007	T	0.13575	-1.0504	8	0.87932	D	0	.	4.4065	0.11411	0.4142:0.0:0.4199:0.166	.	417	Q8IVC4	ZN584_HUMAN	N	417	ENSP00000306756:K417N	ENSP00000306756:K417N	K	+	3	2	ZNF584	63620948	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.179000	0.09768	-0.145000	0.11294	-0.490000	0.04691	AAG	G|0.453;A|0.547		0.512	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		T	58929136	G	T	58929136	3	4	9	1	0	0	0	0	1	0	0	0	18064	991	35	3	1265	3	ZNF584	19	58929136	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	23267	58929136	199847	656	2243											
UBOX5	22888	broad.mit.edu;bcgsc.ca	37	chr20	3090889	3090889	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggcagctggtacaccggctCctttttgaagtagggagaaa	14	8	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:3090889C>A	ENST00000217173.2	-	5	1960	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	UBOX5_ENST00000348031.2_Nonsense_Mutation_p.E443*|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA	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						TACACCGGCTCCTTTTTGAAG	0.607																																					p.E497X		.											.	UBOX5-227	0			c.G1489T						.						69	79	76					20																	3090889		2203	4300	6503	SO:0001587	stop_gained	22888	exon5			CCGGCTCCTTTTT	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.1489G>T	20.37:g.3090889C>A	ENSP00000217173:p.Glu497*	Somatic	84	2		WXS	Illumina GAIIx	Phase_I	106	40	NM_014948	0	0	14	21	7		Nonsense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	42	9.644345	0.99227	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	.	.	.	5.04	5.04	0.67666	.	0.195087	0.43110	U	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.3893	18.7495	0.91809	0.0:1.0:0.0:0.0	.	.	.	.	X	497;443	.	ENSP00000217173:E497X	E	-	1	0	UBOX5	3038889	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.788000	0.62439	2.497000	0.84241	0.561000	0.74099	GAG	.		0.607	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		A	3090889	C	A	3090889	4	1	9	1	0	0	0	0	0	1	0	0	16943	864	30	3	140	3	UBOX5	20	3090889	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10		3090889	59934631	657	2244											
ADAM33	80332	broad.mit.edu;bcgsc.ca	37	chr20	3654768	3654768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtggttcaagtttcgGtgccgagtcaagaactggga	15	6	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:3654768G>T	ENST00000356518.2	-	8	922	c.681C>A	c.(679-681)caC>caA	p.H227Q	ADAM33_ENST00000379861.4_Missense_Mutation_p.H227Q|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.H227Q	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	227	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						TCAAGTTTCGGTGCCGAGTCA	0.652																																					p.H227Q		.											.	ADAM33-291	0			c.C681A						.						97	101	100					20																	3654768		2203	4300	6503	SO:0001583	missense	80332	exon8			GTTTCGGTGCCGA	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.681C>A	20.37:g.3654768G>T	ENSP00000348912:p.His227Gln	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	160	7	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	2.699	-0.271302	0.05716	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000439201;ENST00000322570	T;T;T	0.16196	2.36;2.36;2.36	5.84	-1.18	0.09617	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.07458	0.0188	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.20261	0.043;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.27380	0.079;0.005;0.005;0.001;0.001;0.001	T	0.44967	-0.9293	9	0.14252	T	0.57	.	4.8959	0.13749	0.1615:0.0919:0.5452:0.2014	.	227;239;150;227;227;227	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	Q	227;227;227;150;227;150	ENSP00000348912:H227Q;ENSP00000369190:H227Q;ENSP00000322550:H227Q	ENSP00000318839:H150Q	H	-	3	2	ADAM33	3602768	0.000000	0.05858	0.150000	0.22450	0.069000	0.16628	0.043000	0.13971	-0.245000	0.09625	-3.056000	0.00068	CAC	.		0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		T	3654768	G	T	3654768	3	4	9	1	0	0	0	0	1	0	0	0	250	1252	44	3	1820	3	ADAM33	20	3654768	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	563879	3654768	59370752	658	2245											
SEC23B	10483	ucsc.edu;bcgsc.ca	37	chr20	18491542	18491542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatggtgtgcgttttagttgGaacgtgtggccttccagccg	15	8	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:18491542G>T	ENST00000336714.3	+	2	495	c.63G>T	c.(61-63)tgG>tgT	p.W21C	SEC23B_ENST00000377465.1_Missense_Mutation_p.W21C|SEC23B_ENST00000262544.2_Missense_Mutation_p.W21C|SEC23B_ENST00000377475.3_Missense_Mutation_p.W21C	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	21					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTTTTAGTTGGAACGTGTGGC	0.478																																					p.W21C		.											.	SEC23B-91	0			c.G63T						.						168	147	154					20																	18491542		2203	4300	6503	SO:0001583	missense	10483	exon2			TAGTTGGAACGTG	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.63G>T	20.37:g.18491542G>T	ENSP00000338844:p.Trp21Cys	Somatic	301	5		WXS	Illumina GAIIx	Phase_I	213	46	NM_006363	1	0	11	15	3	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646144	0.87958	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97797	1.0242	10	0.87932	D	0	-9.109	17.6495	0.88159	0.0:0.0:1.0:0.0	.	21;21	B4DJW8;Q15437	.;SC23B_HUMAN	C	21	ENSP00000403971:W21C;ENSP00000338844:W21C;ENSP00000262544:W21C;ENSP00000366695:W21C;ENSP00000366685:W21C	ENSP00000262544:W21C	W	+	3	0	SEC23B	18439542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.601000	0.98297	2.657000	0.90304	0.655000	0.94253	TGG	.		0.478	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			T	18491542	G	T	18491542	3	4	9	1	0	0	0	0	1	0	0	0	14037	1183	41	3	65	3	SEC23B	20	18491542	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	14836774	18491542	44533978	659	2246											
CST9	128822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	23584241	23584241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtggacctgaggaaagCtgatgccctgtcttacgttg	13	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:23584241C>A	ENST00000376971.3	-	2	397	c.386G>T	c.(385-387)aGc>aTc	p.S129I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	129						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CTGAGGAAAGCTGATGCCCTG	0.527																																					p.S129I		.											.	CST9-91	0			c.G386T						.						186	156	166					20																	23584241		2203	4300	6503	SO:0001583	missense	128822	exon2			GGAAAGCTGATGC	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.386G>T	20.37:g.23584241C>A	ENSP00000366170:p.Ser129Ile	Somatic	205	1		WXS	Illumina GAIIx	Phase_I	170	34	NM_001008693	0	0	0	0	0	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790235	0.31685	.	.	ENSG00000173335	ENST00000376971	D	0.90385	-2.66	1.95	-2.86	0.05717	.	0.688080	0.12032	N	0.505907	T	0.69726	0.3143	N	0.08118	0	0.09310	N	1	P	0.44380	0.834	B	0.27500	0.08	T	0.67078	-0.5761	10	0.87932	D	0	.	3.0953	0.06307	0.0:0.354:0.2253:0.4207	.	129	Q5W186	CST9_HUMAN	I	129	ENSP00000366170:S129I	ENSP00000366170:S129I	S	-	2	0	CST9	23532241	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.435000	0.06931	-0.709000	0.05008	-0.258000	0.10820	AGC	.		0.527	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		A	23584241	C	A	23584241	3	1	9	1	0	0	0	0	1	0	0	0	3988	797	28	3	97	3	CST9	20	23584241	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5092699	23584241	39441279	660	2247											
NECAB3	63941	broad.mit.edu	37	chr20	32248098	32248098	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgggcctccagggtatctGacgccccctccagcgagctc	11	18	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:32248098G>T	ENST00000246190.6	-	6	546	c.491C>A	c.(490-492)tCa>tAa	p.S164*	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Nonsense_Mutation_p.S164*	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	164					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CAGGGTATCTGACGCCCCCTC	0.617																																					p.S164X		.											.	NECAB3-91	0			c.C491A						.						48	54	52					20																	32248098		2032	4189	6221	SO:0001587	stop_gained	63941	exon6			GTATCTGACGCCC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.491C>A	20.37:g.32248098G>T	ENSP00000246190:p.Ser164*	Somatic	51	1		WXS	Illumina GAIIx	Phase_I	40	8	NM_031232	0	0	28	38	10	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Nonsense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902969	0.72754	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	.	.	.	5.1	5.1	0.69264	.	0.415364	0.25017	N	0.033788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-6.0867	9.3787	0.38299	0.1611:0.0:0.8389:0.0	.	.	.	.	X	164	.	ENSP00000246190:S164X	S	-	2	0	NECAB3	31711759	0.457000	0.25752	0.163000	0.22734	0.880000	0.50808	3.185000	0.50934	2.378000	0.81104	0.561000	0.74099	TCA	.		0.617	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			T	32248098	G	T	32248098	4	4	9	1	0	0	0	0	0	1	0	0	10345	1294	45	3	727	3	NECAB3	20	32248098	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8663857	32248098	30777422	661	2248											
NCOA6	23054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	33328359	33328359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtaagctgggtcctgCtgaggcagtgcccgggccca	16	13	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:33328359C>A	ENST00000374796.2	-	12	8271	c.5701G>T	c.(5701-5703)Gca>Tca	p.A1901S	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1901S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1901	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGGTCCTGCTGAGGCAGTG	0.592																																					p.A1901S		.											.	NCOA6-292	0			c.G5701T						.						54	53	53					20																	33328359		2203	4300	6503	SO:0001583	missense	23054	exon11			GTCCTGCTGAGGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5701G>T	20.37:g.33328359C>A	ENSP00000363929:p.Ala1901Ser	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	38	22	NM_014071	0	0	10	22	12	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624735	0.46840	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24151	1.87;1.87	5.65	-1.84	0.07809	.	0.752314	0.12599	N	0.454854	T	0.08891	0.0220	N	0.08118	0	0.20873	N	0.99984	B	0.16603	0.018	B	0.14023	0.01	T	0.37934	-0.9684	10	0.07813	T	0.8	0.0536	5.461	0.16617	0.0:0.3542:0.2436:0.4022	.	1901	Q14686	NCOA6_HUMAN	S	1901	ENSP00000363929:A1901S;ENSP00000351894:A1901S	ENSP00000351894:A1901S	A	-	1	0	NCOA6	32792020	0.118000	0.22208	0.979000	0.43373	0.932000	0.56968	-0.281000	0.08456	-0.444000	0.07170	0.655000	0.94253	GCA	.		0.592	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33328359	C	A	33328359	3	1	9	1	0	0	0	0	1	0	0	0	10272	797	28	3	510	3	NCOA6	20	33328359	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1080261	33328359	29697161	662	2249											
DHX35	60625	mdanderson.org	37	chr20	37630412	37630412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcaaaatgaaaccagtgatCcagcaagggatacatgtgtg	10	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:37630412C>A	ENST00000252011.3	+	9	715	c.682C>A	c.(682-684)Cca>Aca	p.P228T	DHX35_ENST00000373323.4_Missense_Mutation_p.P197T|DHX35_ENST00000373325.2_Missense_Mutation_p.P228T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	228	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AACCAGTGATCCAGCAAGGGA	0.348																																					p.P228T		.											.	DHX35-226	0			c.C682A						.						177	183	181					20																	37630412		2203	4300	6503	SO:0001583	missense	60625	exon9			AGTGATCCAGCAA	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.682C>A	20.37:g.37630412C>A	ENSP00000252011:p.Pro228Thr	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	36	12	NM_021931	0	0	5	6	1	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813972	0.32053	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.64	3.47	0.39725	DEAD-like helicase (2);	0.095175	0.85682	D	0.000000	T	0.10766	0.0263	L	0.42245	1.32	0.53688	D	0.999973	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.002	T	0.05920	-1.0856	10	0.72032	D	0.01	.	10.6132	0.45434	0.0:0.8228:0.0:0.1772	.	197;228	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	T	228;228;197;193	ENSP00000362422:P228T;ENSP00000252011:P228T;ENSP00000362420:P197T;ENSP00000414630:P193T	ENSP00000252011:P228T	P	+	1	0	DHX35	37063826	0.996000	0.38824	0.984000	0.44739	0.752000	0.42762	3.050000	0.49877	0.659000	0.30945	0.561000	0.74099	CCA	.		0.348	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		A	37630412	C	A	37630412	3	1	9	1	0	0	0	0	1	0	0	0	4522	855	30	3	716	3	DHX35	20	37630412	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4302053	37630412	25395108	663	2250											
PLCG1	5335	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	39794149	39794149	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctactactctgaggagacCagcagtgaccagggcaacga	11	11	2	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:39794149C>A	ENST00000373271.1	+	15	1974	c.1569C>A	c.(1567-1569)acC>acA	p.T523T	PLCG1_ENST00000244007.3_Silent_p.T523T|PLCG1_ENST00000373272.2_Silent_p.T523T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	523	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)				CTGAGGAGACCAGCAGTGACC	0.587																																					p.T523T		.											.	PLCG1-911	0			c.C1569A						.						92	78	83					20																	39794149		2203	4300	6503	SO:0001819	synonymous_variant	5335	exon15			GGAGACCAGCAGT	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.1569C>A	20.37:g.39794149C>A		Somatic	165	1		WXS	Illumina GAIIx	Phase_I	115	50	NM_182811	0	0	1	8	7	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																			.		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39794149	C	A	39794149	2	1	9	1	0	0	0	0	0	0	0	1	12074	581	21	3		3	PLCG1	20	39794149	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2163737	39794149	23231371	664	2251											
SDC4	6385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	43956014	43956014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagcagtaggatcaggaAgacggcaaagaggatgccca	14	8	1	3	rs149518436		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:43956014A>G	ENST00000372733.3	-	5	526	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	SDC4_ENST00000537976.1_Missense_Mutation_p.F91L	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGGATCAGGAAGACGGCAAAG	0.532			T	ROS1	NSCLC																																p.F163L		.		Dom	yes		20	20q12	6385	syndecan 4		E	.	SDC4-90	0			c.T487C						.	A	LEU/PHE	2,4404	4.2+/-10.8	0,2,2201	98	87	91		487	4.3	0.7	20	dbSNP_134	91	0,8600		0,0,4300	no	missense	SDC4	NM_002999.3	22	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	163/199	43956014	2,13004	2203	4300	6503	SO:0001583	missense	6385	exon5			TCAGGAAGACGGC	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.487T>C	20.37:g.43956014A>G	ENSP00000361818:p.Phe163Leu	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	80	42	NM_002999	0	0	26	71	45	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004128	0.35320	4.54E-4	0.0	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.27256	1.68	5.37	4.28	0.50868	.	0.058810	0.64402	D	0.000001	T	0.18841	0.0452	L	0.32530	0.975	0.47214	D	0.999359	P	0.40282	0.711	B	0.41135	0.348	T	0.02950	-1.1090	10	0.10377	T	0.69	-31.4007	10.4059	0.44256	0.9234:0.0:0.0766:0.0	.	163	P31431	SDC4_HUMAN	L	163;91	ENSP00000361818:F163L	ENSP00000361818:F163L	F	-	1	0	SDC4	43389428	0.992000	0.36948	0.726000	0.30738	0.063000	0.16089	2.858000	0.48356	0.881000	0.35993	-0.256000	0.11100	TTC	A|1.000;G|0.000		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		G	43956014	A	G	43956014	3	3	9	1	0	0	0	0	1	0	0	0	13999	72	3	4	113	4	SDC4	20	43956014	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	4161865	43956014	19069506	665	2252											
AURKA	6790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	54961553	54961553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggaaattgctgagtcaCgagaacacgttttggacctc	10	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:54961553C>T	ENST00000347343.2	-	3	346	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AURKA_ENST00000395911.1_Missense_Mutation_p.V27M|AURKA_ENST00000395915.3_Missense_Mutation_p.V27M|AURKA_ENST00000395913.3_Missense_Mutation_p.V27M|AURKA_ENST00000395909.4_Missense_Mutation_p.V27M|AURKA_ENST00000395914.1_Missense_Mutation_p.V27M|AURKA_ENST00000395907.1_Missense_Mutation_p.V27M|AURKA_ENST00000371356.2_Missense_Mutation_p.V27M|AURKA_ENST00000312783.6_Missense_Mutation_p.V27M	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	27					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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TGCTGAGTCACGAGAACACGT	0.428																																					p.V27M	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	.											.	AURKA-1601	0			c.G79A						.						70	69	69					20																	54961553		2203	4300	6503	SO:0001583	missense	6790	exon3			GAGTCACGAGAAC	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.79G>A	20.37:g.54961553C>T	ENSP00000216911:p.Val27Met	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	106	54	NM_198437	0	0	2	8	6	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504359	0.26949	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.51;-0.04;2.28;1.82;2.12;1.76	5.11	1.61	0.23674	.	0.389822	0.23356	N	0.049061	T	0.76169	0.3950	L	0.52364	1.645	0.09310	N	0.999999	B;D;D;D;D;D;D	0.89917	0.113;1.0;1.0;1.0;0.985;1.0;0.999	B;D;D;P;P;D;P	0.66847	0.048;0.947;0.918;0.891;0.835;0.923;0.882	T	0.66436	-0.5924	10	0.72032	D	0.01	-7.5605	10.4817	0.44698	0.0:0.7321:0.0:0.2679	.	27;27;27;27;27;27;27	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	M	27	ENSP00000379245:V27M;ENSP00000379250:V27M;ENSP00000216911:V27M;ENSP00000379251:V27M;ENSP00000321591:V27M;ENSP00000360407:V27M;ENSP00000379249:V27M;ENSP00000379247:V27M;ENSP00000379243:V27M;ENSP00000393452:V27M;ENSP00000388073:V27M;ENSP00000405042:V27M;ENSP00000405170:V27M;ENSP00000401358:V27M	ENSP00000321591:V27M	V	-	1	0	AURKA	54394960	0.012000	0.17670	0.005000	0.12908	0.010000	0.07245	0.591000	0.23969	0.674000	0.31244	-0.214000	0.12660	GTG	.		0.428	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		T	54961553	C	T	54961553	3	4	9	1	0	0	0	0	1	0	0	0	1222	536	19	1	1160	1	AURKA	20	54961553	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11005539	54961553	8063967	666	2253											
PRPF6	57473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	62616311	62616311	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggaccctacgagaaagatGatgaggaagcagatgctatc	13	7	0	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:62616311G>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.D98Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)					CGAGAAAGATGATGAGGAAGC	0.413																																					p.D98Y		.											.	PRPF6-70	0			c.G292T						.						124	106	112					20																	62616311		2203	4300	6503	SO:0001627	intron_variant	24148	exon3			AAAGATGATGAGG	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.5-17003C>A	20.37:g.62616311G>T		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	55	10	NM_012469	0	0	17	25	8	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643481	0.87859	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	D;D	0.90620	-2.59;-2.7	4.9	4.9	0.64082	PRP1 splicing factor, N-terminal (1);	0.145766	0.64402	D	0.000012	D	0.96849	0.8971	H	0.95470	3.675	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.72075	0.976;0.957	D	0.98104	1.0416	10	0.87932	D	0	-15.2363	18.5125	0.90921	0.0:0.0:1.0:0.0	.	98;98	O94906-2;O94906	.;PRP6_HUMAN	Y	98	ENSP00000266079:D98Y;ENSP00000446216:D98Y	ENSP00000266079:D98Y	D	+	1	0	PRPF6	62086755	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	9.676000	0.98643	2.443000	0.82685	0.585000	0.79938	GAT	.		0.413	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62616311	G	T	62616311	1	4	9	0	1	0	0	0	0	0	0	0	12616	1290	45	3		3	PRPF6	20	62616311	Intron	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7654758	62616311	409209	667	2254											
NPBWR2	2832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	62737957	62737957	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacacgttggtcaccgtcttCatcttgggcgcccttaggat	10	12	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr20:62737957C>A	ENST00000369768.1	-	1	567	c.228G>T	c.(226-228)atG>atT	p.M76I		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	76					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCACCGTCTTCATCTTGGGCG	0.607																																					p.M76I		.											.	NPBWR2-153	0			c.G228T						.						70	57	61					20																	62737957		2201	4300	6501	SO:0001583	missense	2832	exon1			CGTCTTCATCTTG	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.228G>T	20.37:g.62737957C>A	ENSP00000358783:p.Met76Ile	Somatic	75	1		WXS	Illumina GAIIx	Phase_I	67	10	NM_005286	0	0	0	0	0	Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442342	0.83993	.	.	ENSG00000125522	ENST00000369768	T	0.38077	1.16	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.051919	0.64402	U	0.000001	T	0.58750	0.2144	M	0.85373	2.75	0.49687	D	0.99981	D	0.54964	0.969	P	0.58172	0.834	T	0.69461	-0.5139	10	0.87932	D	0	.	14.7494	0.69513	0.0:1.0:0.0:0.0	.	76	P48146	NPBW2_HUMAN	I	76	ENSP00000358783:M76I	ENSP00000358783:M76I	M	-	3	0	NPBWR2	62208401	1.000000	0.71417	0.394000	0.26270	0.809000	0.45718	5.471000	0.66762	1.516000	0.48900	0.484000	0.47621	ATG	.		0.607	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		A	62737957	C	A	62737957	3	1	9	1	0	0	0	0	1	0	0	0	10608	826	29	3	776	3	NPBWR2	20	62737957	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	121646	62737957	287563	668	2255											
SAMSN1	64092	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	15893519	15893519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaattattccgaaaacgatcGaaattcccaaaactgctgct	6	10	0	0	rs192978628		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:15893519G>T	ENST00000400566.1	-	2	162	c.81C>A	c.(79-81)ttC>ttA	p.F27L	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.F95L	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	27					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAAACGATCGAAATTCCCAA	0.289																																					p.F95L		.											.	SAMSN1-94	0			c.C285A						.						33	31	32					21																	15893519		1804	4060	5864	SO:0001583	missense	64092	exon3			ACGATCGAAATTC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.81C>A	21.37:g.15893519G>T	ENSP00000383411:p.Phe27Leu	Somatic	147	2		WXS	Illumina GAIIx	Phase_I	112	27	NM_001256370	0	0	0	0	0	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427190	0.83667	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.60299	0.2;0.2	5.48	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	M	0.87682	2.9	0.45087	D	0.998101	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79780	-0.1659	10	0.87932	D	0	-4.7412	11.2045	0.48760	0.9269:0.0:0.0731:0.0	.	95;27	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	L	95;27	ENSP00000285670:F95L;ENSP00000383411:F27L	ENSP00000285670:F95L	F	-	3	2	SAMSN1	14815390	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.763000	0.38461	0.893000	0.36288	-0.455000	0.05494	TTC	G|0.999;A|0.000		0.289	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			T	15893519	G	T	15893519	3	4	9	1	0	0	0	0	1	0	0	0	13875	1049	37	2	1068	2	SAMSN1	21	15893519	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		15893519	32236376	669	2256											
C21orf7	56911	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	30464777	30464777	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagtatttcagttttatgctCtgcaacaagtttggccatgt	8	7	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:30464777C>G	ENST00000399947.2	+	6	522	c.245C>G	c.(244-246)tCt>tGt	p.S82C	MAP3K7CL_ENST00000399934.1_5'UTR|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S82C|MAP3K7CL_ENST00000496779.1_3'UTR|MAP3K7CL_ENST00000339024.4_5'UTR|MAP3K7CL_ENST00000545939.1_5'UTR|MAP3K7CL_ENST00000399935.2_5'UTR|MAP3K7CL_ENST00000286791.5_Missense_Mutation_p.S82C	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	82						cytosol (GO:0005829)|nucleus (GO:0005634)											GTTTTATGCTCTGCAACAAGT	0.428																																					p.S82C		.											.	.	0			c.C245G						.						135	120	125					21																	30464777		2203	4300	6503	SO:0001583	missense	56911	exon6			TATGCTCTGCAAC	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.245C>G	21.37:g.30464777C>G	ENSP00000382828:p.Ser82Cys	Somatic	79	1		WXS	Illumina GAIIx	Phase_I	73	14	NM_020152	0	0	1	1	0	D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582685	0.46006	.	.	ENSG00000156265	ENST00000341618;ENST00000286791;ENST00000399947	T;T;T	0.55760	0.54;0.5;0.54	4.3	3.43	0.39272	.	0.577478	0.14587	N	0.310487	T	0.46034	0.1372	N	0.14661	0.345	0.80722	D	1	D	0.54964	0.969	P	0.52267	0.694	T	0.50259	-0.8849	10	0.87932	D	0	-3.7688	11.3525	0.49596	0.0:0.912:0.0:0.088	.	82	P57077	TAK1L_HUMAN	C	82	ENSP00000343212:S82C;ENSP00000286791:S82C;ENSP00000382828:S82C	ENSP00000286791:S82C	S	+	2	0	C21orf7	29386648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.834000	0.39171	1.410000	0.46936	-0.143000	0.13931	TCT	.		0.428	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		G	30464777	C	G	30464777	3	3	9	1	0	0	0	0	1	0	0	0	2139	913	32	3	259	3	C21orf7	21	30464777	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	14571258	30464777	17665118	670	2257											
SFRS15	57466	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	33043911	33043911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccctgtctgtcaccTcaggcttttcctttcctcgg	7	17	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:33043911T>A	ENST00000286835.7	-	20	3627	c.3245A>T	c.(3244-3246)gAg>gTg	p.E1082V	SCAF4_ENST00000399804.1_Missense_Mutation_p.E1060V|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1067V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1082						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTCTGTCACCTCAGGCTTTTC	0.493																																					p.E1082V		.											.	SCAF4-90	0			c.A3245T						.						151	145	147					21																	33043911		2203	4300	6503	SO:0001583	missense	57466	exon20			GTCACCTCAGGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3245A>T	21.37:g.33043911T>A	ENSP00000286835:p.Glu1082Val	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	38	17	NM_020706	0	0	12	35	23	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068358	0.76301	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.55413	0.52;0.52;0.52	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	T	0.62048	0.2396	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77557	0.99;0.93;0.915	T	0.66284	-0.5962	10	0.87932	D	0	-20.8321	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1067;1060;1082	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	V	1067;1082;1060	ENSP00000402377:E1067V;ENSP00000286835:E1082V;ENSP00000382703:E1060V	ENSP00000286835:E1082V	E	-	2	0	SCAF4	31965782	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.397000	0.66302	2.261000	0.74972	0.533000	0.62120	GAG	.		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33043911	T	A	33043911	3	1	9	1	0	0	0	0	1	0	0	0	14216	1551	54	5	202	5	SFRS15	21	33043911	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	2579134	33043911	15085984	671	2258											
SYNJ1	8867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	34011381	34011381	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcaggcgggggcaaagaaGactgcggaggaaaagcagcc	18	8	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:34011381G>T	ENST00000322229.7	-	30	3751	c.3752C>A	c.(3751-3753)tCt>tAt	p.S1251Y	SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1235Y|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1290Y|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1204Y|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S1290Y			O43426	SYNJ1_HUMAN	synaptojanin 1	1251	Pro-rich.				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						GGGCAAAGAAGACTGCGGAGG	0.512																																					p.S1290Y		.											.	SYNJ1-232	0			c.C3869A						.						92	103	100					21																	34011381		2203	4300	6503	SO:0001583	missense	8867	exon31			AAAGAAGACTGCG	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.3752C>A	21.37:g.34011381G>T	ENSP00000322234:p.Ser1251Tyr	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	37	7	NM_203446	0	0	2	2	0	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.19|10.19	1.282083|1.282083	0.23392|0.23392	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000418301|ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.|D;D;D;D;D	.|0.94046	.|-2.48;-3.34;-3.28;-2.44;-2.44	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.959047	.|0.08734	.|N	.|0.901677	D|D	0.90786|0.90786	0.7107|0.7107	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.36330	.|0.07;0.214;0.115;0.548;0.32	.|B;B;B;B;B	.|0.39771	.|0.048;0.058;0.124;0.309;0.124	D|D	0.84225|0.84225	0.0463|0.0463	5|10	.|0.87932	.|D	.|0	.|.	10.1242|10.1242	0.42639|0.42639	0.0774:0.139:0.7836:0.0|0.0774:0.139:0.7836:0.0	.|.	.|1204;1290;1251;1251;1235	.|B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.|.;.;.;SYNJ1_HUMAN;.	I|Y	72|1204;1235;1290;1290;1251	.|ENSP00000371931:S1204Y;ENSP00000349903:S1235Y;ENSP00000371939:S1290Y;ENSP00000409667:S1290Y;ENSP00000322234:S1251Y	.|ENSP00000322234:S1251Y	L|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933252|32933252	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.017000|0.017000	0.09413|0.09413	5.074000|5.074000	0.64401|0.64401	2.389000|2.389000	0.81357|0.81357	0.655000|0.655000	0.94253|0.94253	CTT|TCT	.		0.512	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34011381	G	T	34011381	3	4	9	1	0	0	0	0	1	0	0	0	15499	942	33	3	1002	3	SYNJ1	21	34011381	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	967470	34011381	14118514	672	2259											
TRPM2	7226	broad.mit.edu;bcgsc.ca	37	chr21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaactacctccagaacCgacagttccagcaaaagcag	9	12	0	2	rs143493112		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45838383C>T	ENST00000397928.1	+	22	3851	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607													C|||	1	0.000199681	0	0	5008	,	,		18669	0		0	False		,,,				2504	0.001				p.R1136X		.											.	TRPM2-92	0			c.C3406T						.	C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	135	137	137		3406	4.8	0.3	21	dbSNP_134	137	12,8588	9.1+/-34.3	0,12,4288	yes	stop-gained	TRPM2	NM_003307.3		0,15,6488	TT,TC,CC		0.1395,0.0681,0.1153		1136/1504	45838383	15,12991	2203	4300	6503	SO:0001587	stop_gained	7226	exon22			CAGAACCGACAGT	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3406C>T	21.37:g.45838383C>T	ENSP00000381023:p.Arg1136*	Somatic	295	1		WXS	Illumina GAIIx	Phase_I	218	7	NM_003307	0	0	1	1	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	38	7.041531	0.98021	6.81E-4	0.001395	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.81	4.81	0.61882	.	0.605119	0.16448	N	0.213991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6798	11.4159	0.49951	0.0:0.9154:0.0:0.0846	.	.	.	.	X	1136;1136;1116;1136	.	ENSP00000300481:R1116X	R	+	1	2	TRPM2	44662811	0.834000	0.29399	0.303000	0.25071	0.096000	0.18686	3.140000	0.50585	2.395000	0.81488	0.514000	0.50259	CGA	C|0.998;T|0.002		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45838383	C	T	45838383	4	4	9	1	0	0	0	0	0	1	0	0	16634	644	23	1	3492	1	TRPM2	21	45838383	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	11827002	45838383	2291512	673	2260											
KRTAP10-3	386682	bcgsc.ca	37	chr21	45978319	45978319	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaggcctgctggcaggGggaggatgtgcagcaagctg	19	9	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45978319G>C	ENST00000391620.1	-	1	324	c.280C>G	c.(280-282)Ccc>Gcc	p.P94A	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	94	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tgctggcagggggaggatgtg	0.667																																					p.P94A		.											.	KRTAP10-3-91	0			c.C280G						.						102	99	100					21																	45978319		2203	4300	6503	SO:0001583	missense	386682	exon1			GGCAGGGGGAGGA	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.280C>G	21.37:g.45978319G>C	ENSP00000375478:p.Pro94Ala	Somatic	91	5		WXS	Illumina GAIIx	Phase_I	86	71	NM_198696	0	0	0	0	0	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	4.681	0.126630	0.08931	.	.	ENSG00000212935	ENST00000391620	T	0.01323	5.01	3.43	-0.848	0.10727	.	.	.	.	.	T	0.02119	0.0066	M	0.86805	2.84	0.19300	N	0.999972	B	0.20261	0.043	B	0.17098	0.017	T	0.54788	-0.8241	9	0.02654	T	1	.	4.6248	0.12472	0.3096:0.1621:0.5282:0.0	.	94	P60369	KR103_HUMAN	A	94	ENSP00000375478:P94A	ENSP00000375478:P94A	P	-	1	0	KRTAP10-3	44802747	0.839000	0.29477	0.097000	0.21041	0.600000	0.36913	0.763000	0.26517	-0.320000	0.08640	0.505000	0.49811	CCC	.		0.667	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			C	45978319	G	C	45978319	3	2	9	1	0	0	0	0	1	0	0	0	8537	1232	43	3	389	3	KRTAP10-3	21	45978319	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	139936	45978319	2151576	674	2261											
KRTAP10-4	386672	ucsc.edu	37	chr21	45993851	45993851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgcccagtgacctgCgagcccagcccctgccaatc	9	20	0	1	rs201895065		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C		.											.	KRTAP10-4-90	0			c.C216T						.						20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T		Somatic	16	5		WXS	Illumina GAIIx	Phase_I	31	25	NM_198687	0	0	0	0	0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|1.000;|0.000		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45993851	C	T	45993851	2	4	9	1	0	0	0	0	0	0	0	1	8538	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15532	45993851	2136044	675	2262											
POTEH	23784	broad.mit.edu	37	chr22	16266963	16266963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctcagtgtcaggaaattGctggctttcaggtgttctgc	11	8	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:16266963G>T	ENST00000343518.6	-	9	1537	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	496										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCAGGAAATTGCTGGCTTTCA	0.418																																					p.Q496K		.											.	POTEH-1	0			c.C1486A						.						5	7	7					22																	16266963		179	737	916	SO:0001583	missense	23784	exon9			GAAATTGCTGGCT	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1486C>A	22.37:g.16266963G>T	ENSP00000340610:p.Gln496Lys	Somatic	1151	2		WXS	Illumina GAIIx	Phase_I	1275	19	NM_001136213	0	0	0	0	0	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298962	0.23650	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.28454	1.61	1.4	0.227	0.15359	.	.	.	.	.	T	0.35508	0.0934	L	0.32530	0.975	0.09310	N	1	D;P	0.69078	0.997;0.931	D;B	0.72338	0.977;0.294	T	0.19943	-1.0290	9	0.29301	T	0.29	.	5.2958	0.15751	0.0:0.3684:0.6316:0.0	.	496;459	Q6S545;A6NKF6	POTEH_HUMAN;.	K	459;496	ENSP00000340610:Q496K	ENSP00000340610:Q496K	Q	-	1	0	POTEH	14646963	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.393000	0.20817	0.123000	0.18342	0.184000	0.17185	CAA	.		0.418	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16266963	G	T	16266963	3	4	9	1	0	0	0	0	1	0	0	0	12306	1328	46	3	159	3	POTEH	22	16266963	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		16266963	35037603	676	2263											
CLDN5	7122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	19511638	19511638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacgacatccacagccccttCcaggtggtctgcgccgtcac	9	18	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:19511638C>A	ENST00000406028.1	-	2	1456	c.396G>T	c.(394-396)tgG>tgT	p.W132C	CLDN5_ENST00000403084.1_Missense_Mutation_p.W132C|CLDN5_ENST00000413119.2_Missense_Mutation_p.W132C			O00501	CLD5_HUMAN	claudin 5	47					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					ACAGCCCCTTCCAGGTGGTCT	0.672																																					p.W132C		.											.	CLDN5-492	0			c.G396T						.						48	39	42					22																	19511638		2203	4300	6503	SO:0001583	missense	7122	exon1			CCCCTTCCAGGTG	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.396G>T	22.37:g.19511638C>A	ENSP00000385477:p.Trp132Cys	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	67	56	NM_001130861	0	0	2	2	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303911	0.81136	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88818	-2.43;-2.43;-2.43	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97583	1.0112	10	0.87932	D	0	.	17.4842	0.87682	0.0:1.0:0.0:0.0	.	132	D3DX19	.	C	132	ENSP00000385477:W132C;ENSP00000384554:W132C;ENSP00000400612:W132C	ENSP00000384554:W132C	W	-	3	0	CLDN5	17891638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.887000	0.63156	2.384000	0.81235	0.563000	0.77884	TGG	.		0.672	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		A	19511638	C	A	19511638	3	1	9	1	0	0	0	0	1	0	0	0	3495	856	30	3	519	3	CLDN5	22	19511638	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3244675	19511638	31792928	677	2264											
DGCR8	54487	broad.mit.edu;bcgsc.ca	37	chr22	20080378	20080378	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcggtgaccattgatggtgtGacttacggatctggaactgc	13	8	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:20080378G>T	ENST00000351989.3	+	8	2082	c.1653G>T	c.(1651-1653)gtG>gtT	p.V551V	DGCR8_ENST00000383024.2_Intron|DGCR8_ENST00000407755.1_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	551	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGATGGTGTGACTTACGGAT	0.428																																					p.V551V		.											.	DGCR8-90	0			c.G1653T						.						173	172	172					22																	20080378		2203	4300	6503	SO:0001819	synonymous_variant	54487	exon8			TGGTGTGACTTAC	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.1653G>T	22.37:g.20080378G>T		Somatic	113	1		WXS	Illumina GAIIx	Phase_I	84	5	NM_022720	0	0	12	13	1	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	CCDS13773.1																																																																																			.		0.428	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			T	20080378	G	T	20080378	2	4	9	1	0	0	0	0	0	0	0	1	4478	1277	45	3		3	DGCR8	22	20080378	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	568740	20080378	31224188	678	2265											
SERPIND1	3053	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	21140341	21140341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctggagaagaactacaatCtagtggagtccctgaagttg	12	7	1	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:21140341C>A	ENST00000215727.5	+	4	1496	c.1213C>A	c.(1213-1215)Cta>Ata	p.L405I	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.L405I|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	405					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GAACTACAATCTAGTGGAGTC	0.468																																					p.L405I		.											.	SERPIND1-414	0			c.C1213A						.						183	171	175					22																	21140341		2203	4300	6503	SO:0001583	missense	3053	exon4			TACAATCTAGTGG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1213C>A	22.37:g.21140341C>A	ENSP00000215727:p.Leu405Ile	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	112	60	NM_000185	0	0	0	0	0	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810556	0.70797	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.89415	-2.51;-2.51	5.28	4.26	0.50523	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.89658	3.05	0.51482	D	0.99992	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.94125	0.7383	10	0.72032	D	0.01	.	8.2242	0.31560	0.0:0.7516:0.0:0.2484	.	405;405	Q8IVC0;P05546	.;HEP2_HUMAN	I	405	ENSP00000215727:L405I;ENSP00000384050:L405I	ENSP00000215727:L405I	L	+	1	2	SERPIND1	19470341	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.568000	0.36418	1.461000	0.47929	0.655000	0.94253	CTA	.		0.468	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		A	21140341	C	A	21140341	3	1	9	1	0	0	0	0	1	0	0	0	14155	912	32	3	1223	3	SERPIND1	22	21140341	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1059963	21140341	30164225	679	2266											
IGLL1	3543	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	23915564	23915564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcgtcaggctcaggtaGctgctggccgcgtacttgtt	15	11	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:23915564G>T	ENST00000330377.2	-	3	648	c.531C>A	c.(529-531)agC>agA	p.S177R	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	177	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGCTCAGGTAGCTGCTGGCCG	0.627																																					p.S177R		.											.	IGLL1-90	0			c.C531A						.						96	87	90					22																	23915564		2203	4300	6503	SO:0001583	missense	3543	exon3			CAGGTAGCTGCTG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.531C>A	22.37:g.23915564G>T	ENSP00000329312:p.Ser177Arg	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	139	8	NM_020070	0	0	12	12	0	Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	11.21	1.571709	0.28003	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.00856	5.61;5.61	2.45	2.45	0.29901	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.080706	0.53938	D	0.000055	T	0.07818	0.0196	H	0.97214	3.96	0.44214	D	0.997042	D	0.89917	1.0	D	0.91635	0.999	T	0.00100	-1.2065	10	0.87932	D	0	.	5.7738	0.18267	0.169:0.0:0.831:0.0	.	177	P15814	IGLL1_HUMAN	R	177;178	ENSP00000329312:S177R;ENSP00000403391:S178R	ENSP00000329312:S177R	S	-	3	2	IGLL1	22245564	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	0.523000	0.22925	1.363000	0.46019	0.165000	0.16767	AGC	.		0.627	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		T	23915564	G	T	23915564	3	4	9	1	0	0	0	0	1	0	0	0	7620	962	34	3	114	3	IGLL1	22	23915564	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2775223	23915564	27389002	680	2267											
MMP11	4320	broad.mit.edu;bcgsc.ca	37	chr22	24121481	24121481	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagccccccggcctgcCagcagcctcaggcctccccg	11	21	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:24121481C>A	ENST00000215743.3	+	2	268	c.216C>A	c.(214-216)gcC>gcA	p.A72A	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	72					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCGGCCTGCCAGCAGCCTCA	0.711																																					p.A72A		.											.	MMP11-291	0			c.C216A						.						12	14	14					22																	24121481		2200	4291	6491	SO:0001819	synonymous_variant	4320	exon2			GCCTGCCAGCAGC		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.216C>A	22.37:g.24121481C>A		Somatic	48	1		WXS	Illumina GAIIx	Phase_I	90	25	NM_005940	0	0	1	1	0	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	CCDS13816.1																																																																																			.		0.711	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		A	24121481	C	A	24121481	2	1	9	1	0	0	0	0	0	0	0	1	9688	581	21	3		3	MMP11	22	24121481	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	205917	24121481	27183085	681	2268											
UPB1	51733	hgsc.bcm.edu;broad.mit.edu	37	chr22	24911294	24911294	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatgtacagcatcaacggGgctgagatcatcttcaaccc	8	12	4	1	rs374480199		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:24911294G>T	ENST00000326010.5	+	6	1091	c.747G>T	c.(745-747)ggG>ggT	p.G249G	AP000355.2_ENST00000432032.1_RNA|UPB1_ENST00000413389.2_Silent_p.G181G	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	249	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCATCAACGGGGCTGAGATCA	0.612																																					p.G249G		.											.	UPB1-92	0			c.G747T						.						108	86	93					22																	24911294		2203	4300	6503	SO:0001819	synonymous_variant	51733	exon6			CAACGGGGCTGAG	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.747G>T	22.37:g.24911294G>T		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	97	5	NM_016327	0	0	0	0	0	A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	CCDS13827.1																																																																																			.		0.612	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			T	24911294	G	T	24911294	2	4	9	1	0	0	0	0	0	0	0	1	17051	1219	43	3		3	UPB1	22	24911294	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	789813	24911294	26393272	682	2269											
MYO18B	84700	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	26423258	26423258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgaacgcaagaccaaagtgGacttcgatgacttcctccca	8	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:26423258G>T	ENST00000407587.2	+	43	7490	c.7321G>T	c.(7321-7323)Gac>Tac	p.D2441Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2440Y|MYO18B_ENST00000335473.7_Missense_Mutation_p.D2440Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2440						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACCAAAGTGGACTTCGATGA	0.562																																					p.D2440Y		.											.	MYO18B-142	0			c.G7318T						.						124	126	125					22																	26423258		2015	4172	6187	SO:0001583	missense	84700	exon43			AAAGTGGACTTCG	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7321G>T	22.37:g.26423258G>T	ENSP00000386096:p.Asp2441Tyr	Somatic	203	1		WXS	Illumina GAIIx	Phase_I	154	73	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903018|1.903018	0.33628|0.33628	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88896|.	-2.42;-2.42;-2.44|.	5.27|5.27	1.5|1.5	0.22942|0.22942	.|.	0.468209|.	0.19183|.	N|.	0.120628|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.63880|.	0.974;0.989;0.989;0.986;0.993|.	P;P;P;P;P|.	0.58873|.	0.66;0.707;0.707;0.66;0.847|.	T|T	0.42865|0.42865	-0.9426|-0.9426	10|5	0.87932|.	D|.	0|.	.|.	11.1456|11.1456	0.48428|0.48428	0.2482:0.0:0.7518:0.0|0.2482:0.0:0.7518:0.0	.|.	1953;2442;2440;2441;2440|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	Y|C	2440;2440;2441|389	ENSP00000441229:D2440Y;ENSP00000334563:D2440Y;ENSP00000386096:D2441Y|.	ENSP00000334563:D2440Y|.	D|W	+|+	1|3	0|0	MYO18B|MYO18B	24753258|24753258	1.000000|1.000000	0.71417|0.71417	0.844000|0.844000	0.33320|0.33320	0.172000|0.172000	0.22775|0.22775	2.658000|2.658000	0.46733|0.46733	0.604000|0.604000	0.29930|0.29930	0.561000|0.561000	0.74099|0.74099	GAC|TGG	.		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26423258	G	T	26423258	3	4	9	1	0	0	0	0	1	0	0	0	10104	1174	41	3	7484	3	MYO18B	22	26423258	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1511964	26423258	24881308	683	2270											
DEPDC5	9681	ucsc.edu;bcgsc.ca	37	chr22	32266663	32266663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggacagaggcaacagcCagacctttgggaactcccag	11	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:32266663C>A	ENST00000382112.3	+	33	3461	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.Q1040K|DEPDC5_ENST00000400248.2_Missense_Mutation_p.Q1109K|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Q1140K|DEPDC5_ENST00000400246.1_Missense_Mutation_p.Q1140K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Q1118K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Q1109K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.Q1062K	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1140					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGCAACAGCCAGACCTTTGG	0.522																																					p.Q1140K		.											.	DEPDC5-519	0			c.C3418A						.						94	96	95					22																	32266663		1980	4175	6155	SO:0001583	missense	9681	exon34			AACAGCCAGACCT	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3391C>A	22.37:g.32266663C>A	ENSP00000371546:p.Gln1131Lys	Somatic	130	2		WXS	Illumina GAIIx	Phase_I	129	54	NM_001242896	0	0	0	0	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.69|17.69	3.452405|3.452405	0.63290|0.63290	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.31769	.|1.54;1.96;1.96;1.93;1.48;1.95;1.93;1.96	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.139455	.|0.48767	.|D	.|0.000163	T|T	0.38427|0.38427	0.1040|0.1040	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B;B;B	.|0.60575	.|0.988;0.435;0.488;0.622;0.228;0.435;0.255	.|D;B;B;B;B;B;B	.|0.75020	.|0.985;0.104;0.2;0.228;0.083;0.104;0.053	T|T	0.03840|0.03840	-1.0999|-1.0999	5|10	.|0.05833	.|T	.|0.94	.|.	16.7801|16.7801	0.85561|0.85561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|461;1140;1040;526;1118;1131;1109	.|B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;.;DEPD5_HUMAN	Q|K	515|1040;1118;1109;1040;1140;1062;1131;1140;1109	.|ENSP00000440210:Q1040K;ENSP00000266091:Q1118K;ENSP00000383108:Q1109K;ENSP00000383105:Q1140K;ENSP00000371539:Q1062K;ENSP00000371546:Q1131K;ENSP00000371545:Q1140K;ENSP00000383107:Q1109K	.|ENSP00000266091:Q1118K	P|Q	+|+	2|1	0|0	DEPDC5|DEPDC5	30596663|30596663	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.261000|4.261000	0.58841|0.58841	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	CCA|CAG	.		0.522	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		A	32266663	C	A	32266663	3	1	9	1	0	0	0	0	1	0	0	0	4456	595	21	3	3539	3	DEPDC5	22	32266663	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	5843405	32266663	19037903	684	2271											
C22orf33	339669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37397950	37397950	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgttaggaatgatgctGcccttctggttcgtgggcgt	14	7	1	1	rs200772582		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:37397950G>T	ENST00000405091.2	-	4	668	c.417C>A	c.(415-417)ggC>ggA	p.G139G	TEX33_ENST00000402860.3_Silent_p.G54G|TEX33_ENST00000381821.1_Silent_p.G139G			O43247	TEX33_HUMAN	testis expressed 33	139																	GAATGATGCTGCCCTTCTGGT	0.627																																					p.G139G		.											.	.	0			c.C417A						.						134	83	100					22																	37397950		2203	4300	6503	SO:0001819	synonymous_variant	339669	exon3			GATGCTGCCCTTC	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.417C>A	22.37:g.37397950G>T		Somatic	171	0		WXS	Illumina GAIIx	Phase_I	112	25	NM_001163857	0	0	0	0	0	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	CCDS54524.1																																																																																			G|0.999;A|0.001		0.627	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		T	37397950	G	T	37397950	2	4	9	1	0	0	0	0	0	0	0	1	2152	1306	46	3		3	C22orf33	22	37397950	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	5131287	37397950	13906616	685	2272											
TAB1	10454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	39811035	39811035	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagccaagctggacagatGacctgcctctctgccacctc	9	16	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:39811035G>T	ENST00000216160.6	+	2	120	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	TAB1_ENST00000331454.3_Missense_Mutation_p.D20Y	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	20					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTGGACAGATGACCTGCCTCT	0.627																																					p.D20Y		.											.	TAB1-522	0			c.G58T						.						45	37	39					22																	39811035		2203	4300	6503	SO:0001583	missense	10454	exon2			ACAGATGACCTGC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.58G>T	22.37:g.39811035G>T	ENSP00000216160:p.Asp20Tyr	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	69	11	NM_153497	0	0	6	6	0	Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495750	0.85069	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.56103	0.48;0.52	4.85	4.85	0.62838	Protein phosphatase 2C-like (2);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.78314	0.984;0.841;0.991	T	0.77038	-0.2736	10	0.87932	D	0	-15.6168	18.1569	0.89694	0.0:0.0:1.0:0.0	.	20;20;164	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	Y	20	ENSP00000216160:D20Y;ENSP00000333049:D20Y	ENSP00000216160:D20Y	D	+	1	0	TAB1	38140981	1.000000	0.71417	0.965000	0.40720	0.878000	0.50629	8.539000	0.90637	2.510000	0.84645	0.655000	0.94253	GAC	.		0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		T	39811035	G	T	39811035	3	4	9	1	0	0	0	0	1	0	0	0	15542	1290	45	3	64	3	TAB1	22	39811035	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2413085	39811035	11493531	686	2273											
TNRC6B	23112	ucsc.edu;bcgsc.ca	37	chr22	40657846	40657846	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcttttagtgcccgaagtGacgaaaccaagtttaagcca	8	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:40657846G>T	ENST00000454349.2	+	4	337	c.126G>T	c.(124-126)gtG>gtT	p.V42V	TNRC6B_ENST00000301923.9_Silent_p.V78V|TNRC6B_ENST00000402203.1_Silent_p.V78V|TNRC6B_ENST00000335727.9_Silent_p.V42V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	42	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGCCCGAAGTGACGAAACCAA	0.408																																					p.V78V		.											.	TNRC6B-22	0			c.G234T						.						30	32	32					22																	40657846		1869	4061	5930	SO:0001819	synonymous_variant	23112	exon7			CGAAGTGACGAAA	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.126G>T	22.37:g.40657846G>T		Somatic	251	3		WXS	Illumina GAIIx	Phase_I	161	76	NM_001024843	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	CCDS54533.1																																																																																			.		0.408	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	40657846	G	T	40657846	2	4	9	1	0	0	0	0	0	0	0	1	16388	1277	45	3		3	TNRC6B	22	40657846	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	846811	40657846	10646720	687	2274											
TNRC6B	23112	bcgsc.ca;mdanderson.org	37	chr22	40666127	40666127	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatttcctttctttatagtCtggagcaaaagcacaccacc	5	12	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:40666127C>A	ENST00000454349.2	+	6	3019	c.2808C>A	c.(2806-2808)gtC>gtA	p.V936V	TNRC6B_ENST00000301923.9_Splice_Site_p.V189V|TNRC6B_ENST00000402203.1_Splice_Site_p.V189V|TNRC6B_ENST00000335727.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	936	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TCTTTATAGTCTGGAGCAAAA	0.458																																					p.V936V		.											.	TNRC6B-22	0			c.C2808A						.						28	30	29					22																	40666127		1914	4120	6034	SO:0001630	splice_region_variant	23112	exon6			TATAGTCTGGAGC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2807-1C>A	22.37:g.40666127C>A		Somatic	31	1		WXS	Illumina GAIIx	Phase_I	33	15	NM_001162501	0	0	0	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990759	0.35131	.	.	ENSG00000100354	ENST00000446273	.	.	.	6.0	4.98	0.66077	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57980	-0.7717	4	.	.	.	.	10.9978	0.47587	0.0:0.8044:0.1277:0.0679	.	.	.	.	Y	679	.	.	S	+	2	0	TNRC6B	38996073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.129000	0.42055	2.848000	0.98002	0.637000	0.83480	TCT	.		0.458	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			Silent	A	40666127	C	A	40666127	5	1	9	1	0	0	0	0	0	0	1	0	16388	927	32	3	2951	3	TNRC6B	22	40666127	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	8281	40666127	10638439	688	2275											
MOV10L1	54456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50552817	50552817	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttttccaggaataaaGgagacattcctcaaaactta	6	7	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chr22:50552817G>T	ENST00000262794.5	+	7	975	c.892G>T	c.(892-894)Gga>Tga	p.G298*	MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.G278*|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.G298*|MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.G298*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	298					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGGAATAAAGGAGACATTCC	0.368																																					p.G298X		.											.	MOV10L1-93	0			c.G892T						.						56	57	56					22																	50552817		2203	4300	6503	SO:0001587	stop_gained	54456	exon7			AATAAAGGAGACA	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.892G>T	22.37:g.50552817G>T	ENSP00000262794:p.Gly298*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	36	21	NM_018995	0	0	0	0	0	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	42	9.195421	0.99096	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-39.2864	19.3663	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	298;298;298;278	.	ENSP00000262794:G298X	G	+	1	0	MOV10L1	48894944	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.954000	0.76001	2.873000	0.98535	0.563000	0.77884	GGA	.		0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50552817	G	T	50552817	4	4	9	1	0	0	0	0	0	1	0	0	9757	1001	35	3	959	3	MOV10L1	22	50552817	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9886690	50552817	751749	689	2276											
ARSH	347527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	2942061	2942061	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtctctgaccctctccaGgtaaaatcctggatgccctg	9	13	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:2942061G>T	ENST00000381130.2	+	6	901		c.e6-1			NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H						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)				ACCCTCTCCAGGTAAAATCCT	0.522																																					.		.											.	ARSH-130	0			c.902-1G>T						.						49	46	47					X																	2942061		2203	4300	6503	SO:0001630	splice_region_variant	347527	exon6			TCTCCAGGTAAAA	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.902-1G>T	X.37:g.2942061G>T		Somatic	205	0		WXS	Illumina GAIIx	Phase_I	272	59	NM_001011719	0	0	0	0	0		Splice_Site	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012246	0.19277	.	.	ENSG00000205667	ENST00000381130	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9536	0.71094	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSH	2952061	1.000000	0.71417	0.118000	0.21660	0.041000	0.13682	7.615000	0.83006	1.507000	0.48752	0.583000	0.79449	.	.		0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	Intron	T	2942061	G	T	2942061	5	4	9	1	0	0	0	0	0	0	1	0	994	1014	35	3	923	3	ARSH	23	2942061	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10		2942061	152328499	690	2277											
MXRA5	25878	broad.mit.edu;bcgsc.ca	37	chrX	3241451	3241451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacactctgcgaccttctgCaacattggtctctggttctt	7	12	4	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:3241451C>A	ENST00000217939.6	-	5	2429	c.2275G>T	c.(2275-2277)Gca>Tca	p.A759S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	759						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGACCTTCTGCAACATTGGTC	0.443																																					p.A759S		.											.	MXRA5-136	0			c.G2275T						.						112	97	102					X																	3241451		2203	4300	6503	SO:0001583	missense	25878	exon5			CTTCTGCAACATT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2275G>T	X.37:g.3241451C>A	ENSP00000217939:p.Ala759Ser	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	151	7	NM_015419	0	0	3	3	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.698039	0.48307	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65732	-0.17	3.63	3.63	0.41609	.	0.000000	0.39985	U	0.001215	T	0.64204	0.2577	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.57244	0.816	T	0.60388	-0.7273	10	0.56958	D	0.05	.	15.1378	0.72583	0.0:1.0:0.0:0.0	.	759	Q9NR99	MXRA5_HUMAN	S	759	ENSP00000217939:A759S	ENSP00000217939:A759S	A	-	1	0	MXRA5	3251451	0.327000	0.24678	0.006000	0.13384	0.073000	0.16967	1.442000	0.35046	1.446000	0.47643	0.529000	0.55759	GCA	.		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3241451	C	A	3241451	3	1	9	1	0	0	0	0	1	0	0	0	10041	710	25	3	6223	3	MXRA5	23	3241451	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	299390	3241451	152029109	691	2278											
MXRA5	25878	bcgsc.ca	37	chrX	3242694	3242694	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccgtttggttcaagtgaatCttgtacacatccattggttt	8	8	2	1	rs112265369	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:3242694C>A	ENST00000217939.6	-	5	1186	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	344						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAAGTGAATCTTGTACACAT	0.443																																					p.K344N		.											.	MXRA5-136	0			c.G1032T						.						124	90	102					X																	3242694		2203	4300	6503	SO:0001583	missense	25878	exon5			GTGAATCTTGTAC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1032G>T	X.37:g.3242694C>A	ENSP00000217939:p.Lys344Asn	Somatic	219	4		WXS	Illumina GAIIx	Phase_I	281	65	NM_015419	0	0	0	1	1	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	3.272	-0.148916	0.06585	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64085	-0.08	3.47	-4.58	0.03410	.	0.615914	0.13155	U	0.409574	T	0.39462	0.1079	N	0.20685	0.6	0.09310	N	1	B	0.33694	0.421	B	0.33042	0.157	T	0.23868	-1.0176	10	0.21014	T	0.42	.	10.542	0.45039	0.0:0.5872:0.1201:0.2927	.	344	Q9NR99	MXRA5_HUMAN	N	344	ENSP00000217939:K344N	ENSP00000217939:K344N	K	-	3	2	MXRA5	3252694	0.972000	0.33761	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-2.009000	0.00954	-1.632000	0.00781	AAG	C|0.999;T|0.001		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3242694	C	A	3242694	3	1	9	1	0	0	0	0	1	0	0	0	10041	912	32	3	7466	3	MXRA5	23	3242694	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1243	3242694	152027866	692	2279											
WWC3	55841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	10106875	10106875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgccctccgtgagctgcggCagcggttggaggacgcccag	17	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:10106875C>A	ENST00000380861.4	+	21	3374	c.2983C>A	c.(2983-2985)Cag>Aag	p.Q995K	WWC3_ENST00000454666.1_Missense_Mutation_p.Q995K	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	995					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGAGCTGCGGCAGCGGTTGGA	0.697																																					p.Q995K		.											.	WWC3-134	0			c.C2983A						.						28	24	26					X																	10106875		2203	4298	6501	SO:0001583	missense	55841	exon21			CTGCGGCAGCGGT	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2983C>A	X.37:g.10106875C>A	ENSP00000370242:p.Gln995Lys	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	239	60	NM_015691	0	0	7	7	0	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993563	0.54041	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.40476	1.03;1.03	5.32	5.32	0.75619	.	0.251895	0.41823	D	0.000804	T	0.46308	0.1386	L	0.53249	1.67	0.34189	D	0.671825	P	0.35139	0.486	B	0.40565	0.333	T	0.56829	-0.7914	9	.	.	.	-28.5273	18.3888	0.90475	0.0:1.0:0.0:0.0	.	995	Q9ULE0	WWC3_HUMAN	K	995;995;490	ENSP00000370242:Q995K;ENSP00000399584:Q995K	.	Q	+	1	0	WWC3	10066875	1.000000	0.71417	0.994000	0.49952	0.480000	0.33159	4.618000	0.61211	2.370000	0.80446	0.529000	0.55759	CAG	.		0.697	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		A	10106875	C	A	10106875	3	1	9	1	0	0	0	0	1	0	0	0	17462	711	25	3	3061	3	WWC3	23	10106875	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6864181	10106875	145163685	693	2280											
MID1	4281	ucsc.edu;bcgsc.ca	37	chrX	10535274	10535274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatggtgttggcgtcaaagGcccgctcccgacgggtctcg	14	13	3	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:10535274G>T	ENST00000317552.4	-	2	714	c.314C>A	c.(313-315)gCc>gAc	p.A105D	MID1_ENST00000380780.1_Missense_Mutation_p.A105D|MID1_ENST00000380782.2_Missense_Mutation_p.A105D|MID1_ENST00000453318.2_Missense_Mutation_p.A105D|MID1_ENST00000380785.1_Missense_Mutation_p.A105D|MID1_ENST00000380779.1_Missense_Mutation_p.A105D|MID1_ENST00000380787.1_Missense_Mutation_p.A105D	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	105					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						GGCGTCAAAGGCCCGCTCCCG	0.592																																					p.A105D		.											.	MID1-229	0			c.C314A						.						112	86	95					X																	10535274		2203	4300	6503	SO:0001583	missense	4281	exon2			TCAAAGGCCCGCT	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.314C>A	X.37:g.10535274G>T	ENSP00000312678:p.Ala105Asp	Somatic	163	2		WXS	Illumina GAIIx	Phase_I	219	126	NM_001193277	0	0	0	0	0	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580865	0.46006	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.98;0.97;0.54	5.64	5.64	0.86602	.	0.258922	0.42294	D	0.000727	T	0.50905	0.1643	L	0.46157	1.445	0.50313	D	0.999867	B;B;B;P;B;B	0.36392	0.276;0.177;0.042;0.551;0.276;0.073	B;B;B;B;B;B	0.38458	0.199;0.098;0.071;0.274;0.142;0.071	T	0.44862	-0.9300	10	0.28530	T	0.3	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	105;105;105;105;105;105	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	D	105	ENSP00000414521:A105D;ENSP00000312678:A105D;ENSP00000370162:A105D;ENSP00000370156:A105D;ENSP00000370164:A105D;ENSP00000370157:A105D;ENSP00000370159:A105D;ENSP00000391154:A105D;ENSP00000387771:A105D	ENSP00000312678:A105D	A	-	2	0	MID1	10495274	1.000000	0.71417	0.867000	0.34043	0.994000	0.84299	7.433000	0.80362	2.386000	0.81285	0.600000	0.82982	GCC	.		0.592	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			T	10535274	G	T	10535274	3	4	9	1	0	0	0	0	1	0	0	0	9614	1203	42	3	1725	3	MID1	23	10535274	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	428399	10535274	144735286	694	2281											
FRMPD4	9758	bcgsc.ca	37	chrX	12736870	12736870	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctgtttggcacattgagaGatggatgccatcggctcccc	11	13	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:12736870G>T	ENST00000380682.1	+	16	4431	c.3925G>T	c.(3925-3927)Gat>Tat	p.D1309Y		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1309					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CACATTGAGAGATGGATGCCA	0.478																																					p.D1309Y		.											.	FRMPD4-263	0			c.G3925T						.						167	160	162					X																	12736870		2203	4300	6503	SO:0001583	missense	9758	exon16			TTGAGAGATGGAT	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3925G>T	X.37:g.12736870G>T	ENSP00000370057:p.Asp1309Tyr	Somatic	270	4		WXS	Illumina GAIIx	Phase_I	369	49	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657000	0.67586	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08720	3.06	5.75	5.75	0.90469	.	0.100830	0.64402	D	0.000004	T	0.27697	0.0681	M	0.65975	2.015	0.45515	D	0.99847	D;D	0.89917	0.999;1.0	D;D	0.63033	0.91;0.91	T	0.00485	-1.1711	10	0.87932	D	0	-18.4512	18.9192	0.92518	0.0:0.0:1.0:0.0	.	1301;1309	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Y	1309;1300;1298	ENSP00000370057:D1309Y	ENSP00000304583:D1298Y	D	+	1	0	FRMPD4	12646791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.360000	0.97119	2.416000	0.81992	0.600000	0.82982	GAT	.		0.478	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12736870	G	T	12736870	3	4	9	1	0	0	0	0	1	0	0	0	6083	942	33	3	3987	3	FRMPD4	23	12736870	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2201596	12736870	142533690	695	2282											
DDX53	168400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23019100	23019100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacccactagagagttggCtcttcacgtggaagctgaat	10	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:23019100C>A	ENST00000327968.5	+	1	1014	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	309	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						AGAGAGTTGGCTCTTCACGTG	0.393																																					p.A309D		.											.	DDX53-228	0			c.C926A						.						76	74	75					X																	23019100		2203	4300	6503	SO:0001583	missense	168400	exon1			AGTTGGCTCTTCA	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.926C>A	X.37:g.23019100C>A	ENSP00000368667:p.Ala309Asp	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	257	57	NM_182699	0	0	0	0	0	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337890	0.41398	.	.	ENSG00000184735	ENST00000327968	T	0.21734	1.99	4.3	3.36	0.38483	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	H	0.95294	3.65	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.66073	-0.6014	10	0.87932	D	0	-11.3746	10.0356	0.42127	0.2017:0.7983:0.0:0.0	.	309	Q86TM3	DDX53_HUMAN	D	309	ENSP00000368667:A309D	ENSP00000368667:A309D	A	+	2	0	DDX53	22929021	1.000000	0.71417	0.720000	0.30636	0.024000	0.10985	2.262000	0.43285	1.894000	0.54839	0.600000	0.82982	GCT	.		0.393	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23019100	C	A	23019100	3	1	9	1	0	0	0	0	1	0	0	0	4380	797	28	3	928	3	DDX53	23	23019100	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10282230	23019100	132251460	696	2283											
FAM48B1	100130302	ucsc.edu;bcgsc.ca	37	chrX	24382644	24382644	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgcccagcccccCaccaaattcataaaaatagc	5	16	1	0	rs370418088		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:24382644C>T								AC004552.1 (15621 upstream) : PDK3 (100693 downstream)																							CCCAGCCCCCCACCAAATTCA	0.582																																					p.P589P		.											.	.	0			c.C1767T						.						21	20	21					X																	24382644		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			GCCCCCCACCAAA																													X.37:g.24382644C>T		Somatic	259	3		WXS	Illumina GAIIx	Phase_I	387	48	NM_001136234	0	0	0	0	0		Silent	SNP		37																																																																																				.	0	0.582									T	24382644	C	T	24382644	1	4	9	0	1	0	0	0	0	0	0	0	5595	581	21	3		3	FAM48B1	23	24382644	IGR	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1363544	24382644	130887916	697	2284											
MAGEB10	139422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	27840275	27840275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcccatgctgaaaccagCaagatgaaagttcttgagtt	10	8	1	5			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:27840275C>A	ENST00000356790.2	+	3	1097	c.852C>A	c.(850-852)agC>agA	p.S284R		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	284	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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						CTGAAACCAGCAAGATGAAAG	0.448																																					p.S284R		.											.	MAGEB10-130	0			c.C852A						.						54	51	52					X																	27840275		2202	4300	6502	SO:0001583	missense	139422	exon3			AACCAGCAAGATG		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.852C>A	X.37:g.27840275C>A	ENSP00000368304:p.Ser284Arg	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	116	15	NM_182506	0	0	0	0	0	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127672	0.37533	.	.	ENSG00000177689	ENST00000356790	T	0.06768	3.26	2.62	0.591	0.17465	.	0.268085	0.28989	U	0.013489	T	0.28830	0.0715	M	0.89658	3.05	0.22280	N	0.999233	D	0.89917	1.0	D	0.79784	0.993	T	0.04708	-1.0932	10	0.72032	D	0.01	.	7.6142	0.28148	0.0:0.481:0.519:0.0	.	284	Q96LZ2	MAGBA_HUMAN	R	284	ENSP00000368304:S284R	ENSP00000368304:S284R	S	+	3	2	MAGEB10	27750196	0.865000	0.29922	0.723000	0.30687	0.838000	0.47535	-0.140000	0.10342	0.032000	0.15435	0.422000	0.28245	AGC	.		0.448	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		A	27840275	C	A	27840275	3	1	9	1	0	0	0	0	1	0	0	0	9211	709	25	3	854	3	MAGEB10	23	27840275	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3457631	27840275	127430285	698	2285											
MAGEB2	4113	broad.mit.edu;bcgsc.ca	37	chrX	30237541	30237541	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggtccgagagcctatgctGaaaccagcaagatgaaagtc	13	9	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:30237541G>T	ENST00000378988.4	+	2	945	c.844G>T	c.(844-846)Gaa>Taa	p.E282*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	282	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTATGCTGAAACCAGCAA	0.498																																					p.E282X		.											.	MAGEB2-131	0			c.G844T						.						47	46	46					X																	30237541		2202	4299	6501	SO:0001587	stop_gained	4113	exon2			TATGCTGAAACCA	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.844G>T	X.37:g.30237541G>T	ENSP00000368273:p.Glu282*	Somatic	211	2		WXS	Illumina GAIIx	Phase_I	245	15	NM_002364	0	0	0	0	0	O75860	Nonsense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497172	0.64186	.	.	ENSG00000099399	ENST00000378988	.	.	.	3.27	1.44	0.22558	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.9901	0.09533	0.1441:0.2427:0.6131:0.0	.	.	.	.	X	282	.	ENSP00000368273:E282X	E	+	1	0	MAGEB2	30147462	0.986000	0.35501	0.002000	0.10522	0.267000	0.26476	2.744000	0.47450	0.257000	0.21650	0.436000	0.28706	GAA	.		0.498	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		T	30237541	G	T	30237541	4	4	9	1	0	0	0	0	0	1	0	0	9214	1291	45	3	846	3	MAGEB2	23	30237541	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2397266	30237541	125033019	699	2286											
DMD	1756	broad.mit.edu	37	chrX	31697546	31697546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgtatagggaccctccttCcatgactcaagcttggctct	8	13	2	1	rs398124056		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:31697546C>A	ENST00000357033.4	-	53	8024	c.7818G>T	c.(7816-7818)tgG>tgT	p.W2606C	DMD_ENST00000474231.1_Missense_Mutation_p.W146C|DMD_ENST00000359836.1_Missense_Mutation_p.W146C|DMD_ENST00000378677.2_Missense_Mutation_p.W2602C|DMD_ENST00000378707.3_Missense_Mutation_p.W146C|DMD_ENST00000343523.2_Missense_Mutation_p.W146C|DMD_ENST00000541735.1_Missense_Mutation_p.W146C	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	2606					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)				GACCCTCCTTCCATGACTCAA	0.388																																					p.W2606C		.											.	DMD-265	0			c.G7818T						.						144	113	124					X																	31697546		2202	4300	6502	SO:0001583	missense	1756	exon53			CTCCTTCCATGAC	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.7818G>T	X.37:g.31697546C>A	ENSP00000354923:p.Trp2606Cys	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	79	8	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.754473|2.754473	0.49362|0.49362	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|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	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.35805	.|U	.|0.002973	.|T	.|0.68384	.|0.2995	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.977;1.0;0.997;1.0;1.0;0.988;0.99;0.99;1.0;1.0	.|P;D;D;D;D;P;D;D;D;D	.|0.91635	.|0.634;0.999;0.911;0.999;0.999;0.854;0.957;0.957;0.999;0.994	.|T	.|0.67643	.|-0.5618	.|10	.|0.52906	.|T	.|0.07	.|.	19.3431|19.3431	0.94352|0.94352	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2598;2606;2602;1265;1262;146;146;146;146;146	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	X|C	335|2598;1265;1262;302;2602;2606;146;146;2606;2483;146;146;146	.|ENSP00000350765:W302C;ENSP00000367948:W2602C;ENSP00000354923:W2606C;ENSP00000352894:W146C;ENSP00000340057:W146C;ENSP00000367979:W146C;ENSP00000444119:W146C;ENSP00000417123:W146C	.|ENSP00000340057:W146C	E|W	-|-	1|3	0|0	DMD|DMD	31607467|31607467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.187000|0.187000	0.23431|0.23431	6.345000|6.345000	0.72995|0.72995	2.521000|2.521000	0.84997|0.84997	0.544000|0.544000	0.68410|0.68410	GAA|TGG	.		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	31697546	C	A	31697546	3	1	9	1	0	0	0	0	1	0	0	0	4594	856	30	3	3495	3	DMD	23	31697546	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1460005	31697546	123573014	700	2287											
DMD	1756	broad.mit.edu;bcgsc.ca	37	chrX	32407761	32407761	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctggtttctggaataatcGaaacttcatggagacatctt	10	7	3	1	rs398123953		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:32407761G>T	ENST00000357033.4	-	32	4581	c.4375C>A	c.(4375-4377)Cga>Aga	p.R1459R	DMD_ENST00000378677.2_Silent_p.R1455R	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	1459	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)	p.R1454*(2)|p.R1455*(1)		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)				TGGAATAATCGAAACTTCATG	0.348																																					p.R1459R		.											.	DMD-265	3	Substitution - Nonsense(3)	skin(3)	c.C4375A	GRCh37	CM950342	DMD	M		.						99	88	92					X																	32407761		2202	4300	6502	SO:0001819	synonymous_variant	1756	exon32			ATAATCGAAACTT	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.4375C>A	X.37:g.32407761G>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	109	6	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																			.		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32407761	G	T	32407761	2	4	9	1	0	0	0	0	0	0	0	1	4594	1066	37	2		2	DMD	23	32407761	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	710215	32407761	122862799	701	2288											
MED14	9282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	40568698	40568698	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatcaggagtttttctattGataagtggtcgatctgcata	9	6	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:40568698G>T	ENST00000324817.1	-	10	1305	c.1187C>A	c.(1186-1188)tCa>tAa	p.S396*		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	396	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTTTCTATTGATAAGTGGTC	0.358																																					p.S396X		.											.	MED14-289	0			c.C1187A						.						63	54	57					X																	40568698		2203	4300	6503	SO:0001587	stop_gained	9282	exon10			TCTATTGATAAGT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1187C>A	X.37:g.40568698G>T	ENSP00000323720:p.Ser396*	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	141	16	NM_004229	0	0	8	8	0	Q4KMR7|Q9UNB3	Nonsense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	40	8.161983	0.98683	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1269	0.89589	0.0:0.0:1.0:0.0	.	.	.	.	X	396	.	ENSP00000323720:S396X	S	-	2	0	MED14	40453642	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.216000	0.71823	0.523000	0.50628	TCA	.		0.358	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		T	40568698	G	T	40568698	4	4	9	1	0	0	0	0	0	1	0	0	9470	1294	45	3	3265	3	MED14	23	40568698	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8160937	40568698	114701862	702	2289											
GPR34	2857	broad.mit.edu;bcgsc.ca	37	chrX	41554930	41554930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgacaacttcagtcagcaGctggccttactcctcccaca	7	16	2	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:41554930G>T	ENST00000378142.4	+	3	328	c.44G>T	c.(43-45)aGc>aTc	p.S15I	CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S15I|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	15					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TCAGTCAGCAGCTGGCCTTAC	0.433																																					p.S15I		.											.	GPR34-131	0			c.G44T						.						114	91	99					X																	41554930		2203	4300	6503	SO:0001583	missense	2857	exon3			TCAGCAGCTGGCC	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.44G>T	X.37:g.41554930G>T	ENSP00000367384:p.Ser15Ile	Somatic	465	2		WXS	Illumina GAIIx	Phase_I	703	25	NM_001097579	0	0	1	1	0	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060157	0.19987	.	.	ENSG00000171659	ENST00000378142;ENST00000378138	T;T	0.73047	-0.71;-0.71	5.28	3.46	0.39613	.	0.681848	0.13653	N	0.372145	T	0.59878	0.2226	L	0.59436	1.845	0.09310	N	1	P	0.37955	0.612	B	0.32289	0.143	T	0.58250	-0.7669	10	0.66056	D	0.02	-2.267	3.9811	0.09495	0.3333:0.2589:0.4078:0.0	.	15	Q9UPC5	GPR34_HUMAN	I	15	ENSP00000367384:S15I;ENSP00000367378:S15I	ENSP00000367378:S15I	S	+	2	0	GPR34	41439874	0.098000	0.21812	0.371000	0.25978	0.432000	0.31715	0.709000	0.25734	1.004000	0.39156	0.594000	0.82650	AGC	.		0.433	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		T	41554930	G	T	41554930	3	4	9	1	0	0	0	0	1	0	0	0	6715	971	34	3	46	3	GPR34	23	41554930	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	986232	41554930	113715630	703	2290											
MAOA	4128	bcgsc.ca	37	chrX	43590512	43590512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtttgtaggtggatctGgtcaagtgagcgaacggata	16	4	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:43590512G>T	ENST00000338702.3	+	7	793	c.670G>T	c.(670-672)Ggt>Tgt	p.G224C	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Missense_Mutation_p.G91C	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGGTGGATCTGGTCAAGTGAG	0.463																																					p.G224C		.											.	MAOA-194	0			c.G670T						.						134	102	113					X																	43590512		2203	4300	6503	SO:0001583	missense	4128	exon7			GGATCTGGTCAAG		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.670G>T	X.37:g.43590512G>T	ENSP00000340684:p.Gly224Cys	Somatic	223	3		WXS	Illumina GAIIx	Phase_I	267	25	NM_000240	0	0	70	80	10	B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971121	0.74246	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.91945	-2.94;-2.94	5.76	5.76	0.90799	Amine oxidase (1);	0.191033	0.56097	D	0.000021	D	0.96534	0.8869	M	0.84433	2.695	0.53005	D	0.999968	D	0.89917	1.0	D	0.87578	0.998	D	0.96274	0.9201	10	0.49607	T	0.09	.	18.9682	0.92704	0.0:0.0:1.0:0.0	.	224	P21397	AOFA_HUMAN	C	224;91	ENSP00000340684:G224C;ENSP00000440846:G91C	ENSP00000340684:G224C	G	+	1	0	MAOA	43475456	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.039000	0.49791	2.428000	0.82296	0.597000	0.82753	GGT	.		0.463	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		T	43590512	G	T	43590512	3	4	9	1	0	0	0	0	1	0	0	0	9263	1348	47	3	696	3	MAOA	23	43590512	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2035582	43590512	111680048	704	2291											
CDK16	5127	ucsc.edu;bcgsc.ca	37	chrX	47086026	47086026	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacaaagacatactccaatGaggtggtgacactgtggtac	10	9	0	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:47086026G>T	ENST00000357227.4	+	10	1385	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CDK16_ENST00000457458.2_Nonsense_Mutation_p.E327*|CDK16_ENST00000518022.1_Nonsense_Mutation_p.E321*|CDK16_ENST00000276052.6_Nonsense_Mutation_p.E395*	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						ATACTCCAATGAGGTGGTGAC	0.547																																					p.E395X		.											.	CDK16-564	0			c.G1183T						.						114	93	100					X																	47086026		2203	4300	6503	SO:0001587	stop_gained	5127	exon10			TCCAATGAGGTGG		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"Cyclin-dependent kinases"	8749	protein-coding gene	gene with protein product	"serine/threonine-protein kinase"	311550	"PCTAIRE protein kinase 1"	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.961G>T	X.37:g.47086026G>T	ENSP00000349762:p.Glu321*	Somatic	246	4		WXS	Illumina GAIIx	Phase_I	302	58	NM_001170460	0	0	91	118	27	A8K280|B7Z7C8|J3KN74|J3KQP7	Nonsense_Mutation	SNP	ENST00000357227.4	37	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	G	40	8.217951	0.98712	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518022;ENST00000276052;ENST00000523344	.	.	.	5.62	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.5568	11.0169	0.47693	0.0:0.1367:0.7179:0.1454	.	.	.	.	X	327;321;419;273;321;321;395;78	.	ENSP00000276052:E395X	E	+	1	0	CDK16	46970970	1.000000	0.71417	0.691000	0.30163	0.991000	0.79684	9.695000	0.98691	0.538000	0.28769	0.529000	0.55759	GAG	.		0.547	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		T	47086026	G	T	47086026	4	4	9	1	0	0	0	0	0	1	0	0	3139	1291	45	3	1237	3	CDK16	23	47086026	Nonsense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	3495514	47086026	108184534	705	2292											
ZNF182	7569	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	47836739	47836739	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagttctccaatgtacaatGaggtgtgacttcttgctgaa	10	7	2	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:47836739G>T	ENST00000396965.1	-	7	1097	c.747C>A	c.(745-747)ctC>ctA	p.L249L	ZNF182_ENST00000305127.6_Silent_p.L249L|ZNF182_ENST00000376943.3_Silent_p.L230L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	249					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(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AATGTACAATGAGGTGTGACT	0.403																																					p.L249L		.											.	ZNF182-132	0			c.C747A						.						79	76	77					X																	47836739		2203	4300	6503	SO:0001819	synonymous_variant	7569	exon7			TACAATGAGGTGT	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.747C>A	X.37:g.47836739G>T		Somatic	53	1		WXS	Illumina GAIIx	Phase_I	85	20	NM_006962	0	0	3	6	3	A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	CCDS35236.1																																																																																			.		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		T	47836739	G	T	47836739	2	4	9	1	0	0	0	0	0	0	0	1	17798	1277	45	3		3	ZNF182	23	47836739	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	750713	47836739	107433821	706	2293											
TBC1D25	4943	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	48417292	48417292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtttgcccaggcccattGctagaagactgggacataat	10	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:48417292G>T	ENST00000376771.4	+	4	737	c.396G>T	c.(394-396)ttG>ttT	p.L132F	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_Intron|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	132					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CAGGCCCATTGCTAGAAGACT	0.542																																					p.L132F		.											.	TBC1D25-131	0			c.G396T						.						89	73	79					X																	48417292		2203	4300	6503	SO:0001583	missense	4943	exon4			CCCATTGCTAGAA	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.396G>T	X.37:g.48417292G>T	ENSP00000365962:p.Leu132Phe	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	232	16	NM_002536	0	0	1	1	0	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.064|5.064	0.197391|0.197391	0.09599|0.09599	.|.	.|.	ENSG00000068354|ENSG00000068354	ENST00000427713|ENST00000376771;ENST00000418627	.|T;T	.|0.53206	.|0.63;0.63	5.4|5.4	1.41|1.41	0.22369|0.22369	.|.	.|0.337088	.|0.27240	.|N	.|0.020272	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.993;0.993;0.983	.|P;P;P	.|0.56343	.|0.796;0.796;0.725	T|T	0.34850|0.34850	-0.9812|-0.9812	6|10	0.02654|0.46703	T|T	1|0.11	-0.6149|-0.6149	4.4006|4.4006	0.11385|0.11385	0.089:0.2706:0.5008:0.1395|0.089:0.2706:0.5008:0.1395	.|.	.|136;74;132	.|B4DF03;B4DGU3;Q3MII6	.|.;.;TBC25_HUMAN	S|F	81|132;148	.|ENSP00000365962:L132F;ENSP00000402268:L148F	ENSP00000387764:A81S|ENSP00000365962:L132F	A|L	+|+	1|3	0|2	TBC1D25|TBC1D25	48302236|48302236	0.997000|0.997000	0.39634|0.39634	0.955000|0.955000	0.39395|0.39395	0.222000|0.222000	0.24845|0.24845	0.385000|0.385000	0.20685|0.20685	0.564000|0.564000	0.29238|0.29238	0.529000|0.529000	0.55759|0.55759	GCT|TTG	.		0.542	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		T	48417292	G	T	48417292	3	4	9	1	0	0	0	0	1	0	0	0	15662	1310	46	3	410	3	TBC1D25	23	48417292	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	580553	48417292	106853268	707	2294											
WDR45	11152	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	48934319	48934319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttgtcatggcgcatgCgcacagaaagcactggcttg	11	12	2	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:48934319C>T	ENST00000376372.3	-	5	507	c.326G>A	c.(325-327)cGc>cAc	p.R109H	WDR45_ENST00000322995.8_Missense_Mutation_p.R109H|WDR45_ENST00000396681.4_Missense_Mutation_p.R109H|WDR45_ENST00000473974.1_Missense_Mutation_p.R109H|WDR45_ENST00000485908.1_Missense_Mutation_p.R74H|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.R110H|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.R110H	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	109					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ATGGCGCATGCGCACAGAAAG	0.622																																					p.R110H		.											.	WDR45-131	0			c.G329A						.						72	56	61					X																	48934319		2203	4300	6503	SO:0001583	missense	11152	exon6			CGCATGCGCACAG	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.326G>A	X.37:g.48934319C>T	ENSP00000365551:p.Arg109His	Somatic	287	2		WXS	Illumina GAIIx	Phase_I	445	92	NM_007075	0	0	114	114	0	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893402	0.52121	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382	T;T;T;T;T;T;T;T;T;T;T;T	0.77620	-0.38;-0.38;-1.11;-1.11;-0.38;-1.11;-0.38;-1.11;-1.11;-1.11;-1.11;-0.38	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.85710	2.77	0.80722	D	1	B;B;B;B;B	0.26602	0.062;0.021;0.056;0.011;0.154	B;B;B;B;B	0.19946	0.004;0.009;0.027;0.009;0.022	T	0.80946	-0.1155	10	0.54805	T	0.06	-12.0059	14.6194	0.68574	0.0:1.0:0.0:0.0	.	109;109;74;110;109	C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;WIPI4_HUMAN	H	109;109;110;74;109;110;109;75;134;127;74;109	ENSP00000365551:R109H;ENSP00000365543:R109H;ENSP00000348848:R110H;ENSP00000419897:R74H;ENSP00000417211:R109H;ENSP00000365546:R110H;ENSP00000379913:R109H;ENSP00000418919:R75H;ENSP00000420728:R134H;ENSP00000393640:R127H;ENSP00000419324:R74H;ENSP00000420534:R109H	ENSP00000365543:R109H	R	-	2	0	WDR45	48821263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.375000	0.66173	2.182000	0.69389	0.529000	0.55759	CGC	.		0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		T	48934319	C	T	48934319	3	4	9	1	0	0	0	0	1	0	0	0	17346	768	27	1	784	1	WDR45	23	48934319	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	517027	48934319	106336241	708	2295											
CCNB3	85417	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	50052072	50052072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatatgccactttaggaaGccaccagtattgcagacaac	8	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:50052072G>T	ENST00000376042.1	+	6	1201	c.903G>T	c.(901-903)aaG>aaT	p.K301N	CCNB3_ENST00000276014.7_Missense_Mutation_p.K301N|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	301					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)					ACTTTAGGAAGCCACCAGTAT	0.413																																					p.K301N		.											.	CCNB3-482	0			c.G903T						.						107	90	96					X																	50052072		2203	4300	6503	SO:0001583	missense	85417	exon5			TAGGAAGCCACCA	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.903G>T	X.37:g.50052072G>T	ENSP00000365210:p.Lys301Asn	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	144	26	NM_033031	0	0	1	1	0	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195404	0.22037	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.38887	1.11;1.11	3.3	-1.77	0.07982	.	314.505000	0.00166	N	0.000000	T	0.52741	0.1753	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	P	0.57911	0.829	T	0.41197	-0.9522	9	.	.	.	.	3.4789	0.07595	0.4958:0.0:0.313:0.1912	.	301	Q8WWL7	CCNB3_HUMAN	N	301	ENSP00000365210:K301N;ENSP00000276014:K301N	.	K	+	3	2	CCNB3	50068812	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.470000	0.02346	-0.633000	0.05545	0.594000	0.82650	AAG	.		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50052072	G	T	50052072	3	4	9	1	0	0	0	0	1	0	0	0	2921	962	34	3	917	3	CCNB3	23	50052072	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1117753	50052072	105218488	709	2296											
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53607986	53607986	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagctgctgagcgaacaaCctagtaaagagagaaagaaa	11	6	0	4			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:53607986C>A	ENST00000342160.3	-	42	5978	c.5521G>T	c.(5521-5523)Gtt>Ttt	p.V1841F	HUWE1_ENST00000262854.6_Splice_Site_p.V1841F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1841					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						GAGCGAACAACCTAGTAAAGA	0.448																																					p.V1841F		.											.	HUWE1-280	0			c.G5521T						.						44	32	36					X																	53607986		2203	4300	6503	SO:0001630	splice_region_variant	10075	exon43			GAACAACCTAGTA	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.5521-1G>T	X.37:g.53607986C>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	129	21	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.862482|3.862482	0.71949|0.71949	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.39592	.|1.07;1.07	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70016	.|0.96;0.967	T|T	0.63681|0.63681	-0.6582|-0.6582	5|10	.|0.59425	.|D	.|0.04	.|.	17.7626|17.7626	0.88468|0.88468	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1841;1841	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|F	874|1841	.|ENSP00000340648:V1841F;ENSP00000262854:V1841F	.|ENSP00000262854:V1841F	G|V	-|-	2|1	0|0	HUWE1|HUWE1	53624711|53624711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.392000|7.392000	0.79840|0.79840	2.467000|2.467000	0.83353|0.83353	0.600000|0.600000	0.82982|0.82982	GGT|GTT	.		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation	A	53607986	C	A	53607986	5	1	9	1	0	0	0	0	0	0	1	0	7488	521	18	3	7771	3	HUWE1	23	53607986	Splice_Site	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3555914	53607986	101662574	710	2297											
FAM123B	139285	ucsc.edu	37	chrX	63409906	63409906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggccggaccctgggCagctgaggaatgccatgggt	16	11	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:63409906C>A	ENST00000330258.3	-	2	3533	c.3261G>T	c.(3259-3261)ctG>ctT	p.L1087L	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1087	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGACCCTGGGCAGCTGAGGAA	0.617																																					p.L1087L		.											.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.G3261T						.						15	17	17					X																	63409906		1987	4159	6146	SO:0001819	synonymous_variant	139285	exon2			CCTGGGCAGCTGA	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3261G>T	X.37:g.63409906C>A		Somatic	208	4		WXS	Illumina GAIIx	Phase_I	354	42	NM_152424	0	0	1	1	0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																			.		0.617	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63409906	C	A	63409906	2	1	9	1	0	0	0	0	0	0	0	1	5442	697	25	3		3	FAM123B	23	63409906	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	9801920	63409906	91860654	711	2298											
MTMR8	55613	broad.mit.edu	37	chrX	63579298	63579298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatacccatgtttctttcCgggctgcacctgaagcctcc	7	15	1	1	rs201096276		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:63579298C>A	ENST00000374852.3	-	2	201	c.134G>T	c.(133-135)cGg>cTg	p.R45L	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45L	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TGTTTCTTTCCGGGCTGCACC	0.403																																					p.R45L		.											.	MTMR8-195	1	Whole gene deletion(1)	ovary(1)	c.G134T						.						103	93	96					X																	63579298		2203	4300	6503	SO:0001583	missense	55613	exon2			TCTTTCCGGGCTG	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.134G>T	X.37:g.63579298C>A	ENSP00000363985:p.Arg45Leu	Somatic	59	1		WXS	Illumina GAIIx	Phase_I	82	5	NM_017677	0	0	0	0	0	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930257	0.34096	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	T;T	0.81163	-1.46;-1.46	3.56	1.76	0.24704	.	0.302135	0.19440	U	0.114201	T	0.80470	0.4629	M	0.87180	2.865	0.31234	N	0.696029	B;P	0.34562	0.451;0.457	B;B	0.35278	0.066;0.199	T	0.78234	-0.2283	10	0.72032	D	0.01	.	7.3132	0.26485	0.0:0.763:0.0:0.237	.	45;45	B4DQL0;Q96EF0	.;MTMR8_HUMAN	L	45;45;44	ENSP00000394003:R45L;ENSP00000363985:R45L	ENSP00000247400:R44L	R	-	2	0	MTMR8	63496023	0.437000	0.25593	0.266000	0.24541	0.997000	0.91878	1.416000	0.34759	0.077000	0.16863	0.513000	0.50165	CGG	.		0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		A	63579298	C	A	63579298	3	1	9	1	0	0	0	0	1	0	0	0	9987	652	23	2	2032	2	MTMR8	23	63579298	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	169392	63579298	91691262	712	2299											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																												p.Q58L		.											.	AR-661	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.A173T	GRCh37	CM033749	AR	M	rs5902610	.						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCTGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	.		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765161	A	T	66765161	3	4	9	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-OR-A5JA-01A-11D-A29I-10	3185863	66765161	88505399	713	2300											
YIPF6	286451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	67741213	67741213	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgctgtttccttttctcaGaatgctgcaaagagactctg	8	10	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67741213G>T	ENST00000462683.1	+	5	1052		c.e5-1		YIPF6_ENST00000374622.2_Splice_Site	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6						intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTTTTCTCAGAATGCTGCAA	0.428																																					.		.											.	YIPF6-130	0			c.180-1G>T						.						104	90	94					X																	67741213		2203	4300	6503	SO:0001630	splice_region_variant	286451	exon4			TTCTCAGAATGCT	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.309-1G>T	X.37:g.67741213G>T		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	153	82	NM_001195214	0	0	0	0	0	B4E1U7|G5E997|Q5JP08	Splice_Site	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326596	0.60743	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4407	0.67314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YIPF6	67657938	1.000000	0.71417	0.972000	0.41901	0.808000	0.45660	6.857000	0.75455	2.284000	0.76573	0.513000	0.50165	.	.		0.428	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	Intron	T	67741213	G	T	67741213	5	4	9	1	0	0	0	0	0	0	1	0	17531	956	33	3	326	3	YIPF6	23	67741213	Splice_Site	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	976052	67741213	87529347	714	2301											
YIPF6	286451	broad.mit.edu	37	chrX	67751770	67751770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcctccaaaccgcagagccCtagctgtttatcctgttttc	7	14	0	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67751770C>G	ENST00000462683.1	+	7	1384	c.640C>G	c.(640-642)Cta>Gta	p.L214V	YIPF6_ENST00000374622.2_Missense_Mutation_p.L171V	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	214					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCGCAGAGCCCTAGCTGTTTA	0.388																																					p.L214V		.											.	YIPF6-130	0			c.C640G						.						166	117	133					X																	67751770		2195	4293	6488	SO:0001583	missense	286451	exon7			AGAGCCCTAGCTG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.640C>G	X.37:g.67751770C>G	ENSP00000417573:p.Leu214Val	Somatic	75	2		WXS	Illumina GAIIx	Phase_I	91	11	NM_173834	0	0	8	21	13	B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611083	0.46631	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.95	0.65309	Yip1 domain (1);	0.067802	0.64402	D	0.000017	T	0.72285	0.3441	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.98	T	0.79117	-0.1935	10	0.87932	D	0	-25.3709	11.606	0.51033	0.0:0.9123:0.0:0.0877	.	171;214	G5E997;Q96EC8	.;YIPF6_HUMAN	V	214;171;171	ENSP00000417573:L214V;ENSP00000401799:L171V;ENSP00000363751:L171V	ENSP00000363751:L171V	L	+	1	2	YIPF6	67668495	1.000000	0.71417	0.139000	0.22197	0.138000	0.21146	5.740000	0.68629	1.205000	0.43262	0.600000	0.82982	CTA	.		0.388	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		G	67751770	C	G	67751770	3	3	9	1	0	0	0	0	1	0	0	0	17531	680	24	3	666	3	YIPF6	23	67751770	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	10557	67751770	87518790	715	2302											
STARD8	9754	ucsc.edu;bcgsc.ca	37	chrX	67940921	67940921	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggacctgcctgagcccatCttcaccagcaagctcaccac	8	18	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:67940921C>A	ENST00000252336.6	+	8	2337	c.1965C>A	c.(1963-1965)atC>atA	p.I655I	STARD8_ENST00000374599.3_Silent_p.I735I|STARD8_ENST00000374597.3_Silent_p.I655I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	655	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGAGCCCATCTTCACCAGCA	0.562																																					p.I735I		.											.	STARD8-196	0			c.C2205A						.						101	85	91					X																	67940921		2203	4300	6503	SO:0001819	synonymous_variant	9754	exon9			GCCCATCTTCACC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1965C>A	X.37:g.67940921C>A		Somatic	227	3		WXS	Illumina GAIIx	Phase_I	355	87	NM_001142503	0	0	0	1	1	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	CCDS14390.1																																																																																			.		0.562	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67940921	C	A	67940921	2	1	9	1	0	0	0	0	0	0	0	1	15310	903	32	3		3	STARD8	23	67940921	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	189151	67940921	87329639	716	2303											
MED12	9968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	70352313	70352313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacatgtgttaaaggctgCtggggaagaattggagaagg	18	3	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70352313C>A	ENST00000374080.3	+	31	4372	c.4340C>A	c.(4339-4341)gCt>gAt	p.A1447D	MED12_ENST00000333646.6_Missense_Mutation_p.A1447D|MED12_ENST00000374102.1_Missense_Mutation_p.A1447D			Q93074	MED12_HUMAN	mediator complex subunit 12	1447					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)					TTAAAGGCTGCTGGGGAAGAA	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.A1447D		.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12-272	0			c.C4340A						.						63	58	60					X																	70352313		1936	4127	6063	SO:0001583	missense	9968	exon31			AGGCTGCTGGGGA	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.4340C>A	X.37:g.70352313C>A	ENSP00000363193:p.Ala1447Asp	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	301	29	NM_005120	0	0	24	26	2	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681973	0.88542	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;T;T;T;T	0.84800	-1.9;1.3;1.3;1.3;1.3	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.997;0.999	D	0.93409	0.6767	10	0.87932	D	0	-11.2909	16.6815	0.85292	0.0:1.0:0.0:0.0	.	1447;1294;1447;1447	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	D	1447;1447;1447;1447;1415;192	ENSP00000333125:A1447D;ENSP00000363215:A1447D;ENSP00000363193:A1447D;ENSP00000414203:A1415D;ENSP00000408388:A192D	ENSP00000333125:A1447D	A	+	2	0	MED12	70269038	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.072000	0.76777	2.199000	0.70637	0.523000	0.50628	GCT	.		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70352313	C	A	70352313	3	1	9	1	0	0	0	0	1	0	0	0	9466	797	28	3	4462	3	MED12	23	70352313	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	2411392	70352313	84918247	717	2304											
TAF1	6872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	70596893	70596893	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcagtagttcctctgactCagaatctgagatgggacctc	9	11	4	3			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70596893C>A	ENST00000373790.4	+	5	614	c.563C>A	c.(562-564)tCa>tAa	p.S188*	TAF1_ENST00000449580.1_Nonsense_Mutation_p.S188*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.S209*|TAF1_ENST00000276072.3_Nonsense_Mutation_p.S209*	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	188	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCCTCTGACTCAGAATCTGAG	0.498																																					p.S209X		.											.	TAF1-900	0			c.C626A						.						112	94	100					X																	70596893		2203	4300	6503	SO:0001587	stop_gained	6872	exon5			CTGACTCAGAATC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.563C>A	X.37:g.70596893C>A	ENSP00000362895:p.Ser188*	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	211	43	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Nonsense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	37	6.554987	0.97658	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.	.	.	5.53	4.65	0.58169	.	0.137162	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2144	0.59851	0.0:0.9215:0.0:0.0785	.	.	.	.	X	188;188;209;209	.	ENSP00000276072:S209X	S	+	2	0	TAF1	70513618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.490000	0.60319	2.472000	0.83506	0.529000	0.55759	TCA	.		0.498	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70596893	C	A	70596893	4	1	9	1	0	0	0	0	0	1	0	0	15560	838	29	3	644	3	TAF1	23	70596893	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	244580	70596893	84673667	718	2305											
TAF1	6872	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	70598293	70598293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaacctgtgataaaatctaGaatgatagaggtgagcaaca	10	5	1	6			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:70598293G>T	ENST00000373790.4	+	7	1190	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	TAF1_ENST00000449580.1_Missense_Mutation_p.R380I|TAF1_ENST00000423759.1_Missense_Mutation_p.R401I|TAF1_ENST00000276072.3_Missense_Mutation_p.R401I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	380	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATAAAATCTAGAATGATAGAG	0.408																																					p.R401I		.											.	TAF1-900	0			c.G1202T						.						111	96	101					X																	70598293		2203	4300	6503	SO:0001583	missense	6872	exon7			AATCTAGAATGAT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1139G>T	X.37:g.70598293G>T	ENSP00000362895:p.Arg380Ile	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	202	12	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	9.816	1.184593	0.21870	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08896	3.04;3.09;3.09;3.04	5.27	1.02	0.19986	.	0.803881	0.12159	N	0.494146	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B	0.18166	0.001;0.026	B;B	0.17722	0.006;0.019	T	0.42582	-0.9443	10	0.45353	T	0.12	.	5.2413	0.15473	0.3787:0.1337:0.4875:0.0	.	380;401	P21675;P21675-2	TAF1_HUMAN;.	I	380;380;401;401	ENSP00000362895:R380I;ENSP00000389000:R380I;ENSP00000406549:R401I;ENSP00000276072:R401I	ENSP00000276072:R401I	R	+	2	0	TAF1	70515018	0.001000	0.12720	0.010000	0.14722	0.804000	0.45430	0.418000	0.21230	-0.177000	0.10690	-0.322000	0.08575	AGA	.		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70598293	G	T	70598293	3	4	9	1	0	0	0	0	1	0	0	0	15560	942	33	3	1228	3	TAF1	23	70598293	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1400	70598293	84672267	719	2306											
CDX4	1046	hgsc.bcm.edu;broad.mit.edu	37	chrX	72667507	72667507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgggtcgcttgtcccgacgGacgcaggcgccgccaaggcc	16	16	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:72667507G>T	ENST00000373514.2	+	1	418	c.418G>T	c.(418-420)Gac>Tac	p.D140Y		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	140					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)					TGTCCCGACGGACGCAGGCGC	0.657																																					p.D140Y		.											.	CDX4-130	0			c.G418T						.						17	17	17					X																	72667507		2194	4277	6471	SO:0001583	missense	1046	exon1			CCGACGGACGCAG	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.418G>T	X.37:g.72667507G>T	ENSP00000362613:p.Asp140Tyr	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	78	12	NM_005193	0	0	0	0	0	A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	8.062	0.768443	0.15983	.	.	ENSG00000131264	ENST00000373514	T	0.46451	0.87	2.08	2.08	0.27032	Caudal-like activation domain (1);	0.313739	0.29908	N	0.010887	T	0.53867	0.1823	M	0.62723	1.935	0.22620	N	0.99893	D	0.89917	1.0	D	0.74674	0.984	T	0.29058	-1.0024	10	0.49607	T	0.09	-15.393	7.0099	0.24857	0.0:0.0:1.0:0.0	.	140	O14627	CDX4_HUMAN	Y	140	ENSP00000362613:D140Y	ENSP00000362613:D140Y	D	+	1	0	CDX4	72584232	0.552000	0.26505	0.024000	0.17045	0.006000	0.05464	4.479000	0.60236	1.336000	0.45506	0.432000	0.28606	GAC	.		0.657	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		T	72667507	G	T	72667507	3	4	9	1	0	0	0	0	1	0	0	0	3191	1174	41	3	420	3	CDX4	23	72667507	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	2069214	72667507	82603053	720	2307											
ATRX	546	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	76918898	76918898	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgtttctgcctttgacttCtttatgctctttaggctttg	7	9	4	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:76918898C>A	ENST00000373344.5	-	12	4307	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1327*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1365					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTTGACTTCTTTATGCTCT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.E1365X		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX-248	1	Unknown(1)	bone(1)	c.G4093T						.						187	155	166					X																	76918898		2203	4295	6498	SO:0001587	stop_gained	546	exon12			TGACTTCTTTATG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4093G>T	X.37:g.76918898C>A	ENSP00000362441:p.Glu1365*	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	128	26	NM_000489	0	0	1	1	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	45	11.472191	0.99565	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.22	4.22	0.49857	.	0.143963	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-12.139	16.2231	0.82269	0.0:1.0:0.0:0.0	.	.	.	.	X	1365;1327;1292	.	ENSP00000362441:E1365X	E	-	1	0	ATRX	76805554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.193000	0.50997	1.821000	0.53095	0.600000	0.82982	GAA	.		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76918898	C	A	76918898	4	1	9	1	0	0	0	0	0	1	0	0	1209	922	32	3	3481	3	ATRX	23	76918898	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	4251391	76918898	78351662	721	2308											
SATL1	340562	bcgsc.ca	37	chrX	84362768	84362768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttggcttgtgcctgattGgctggtgcctacttgtctca	11	9	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:84362768G>T	ENST00000395409.3	-	1	1206	c.646C>A	c.(646-648)Caa>Aaa	p.Q216K	SATL1_ENST00000332921.5_Missense_Mutation_p.Q216K|SATL1_ENST00000509231.1_Missense_Mutation_p.Q403K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	216	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						GTGCCTGATTGGCTGGTGCCT	0.532																																					p.Q403K		.											.	SATL1-175	0			c.C1207A						.						201	137	159					X																	84362768		2203	4300	6503	SO:0001583	missense	340562	exon1			CTGATTGGCTGGT	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.646C>A	X.37:g.84362768G>T	ENSP00000378804:p.Gln216Lys	Somatic	398	6		WXS	Illumina GAIIx	Phase_I	547	47	NM_001012980	0	0	0	0	0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	14.22	2.469979	0.43839	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.45668	0.89;0.89;0.89	4.26	3.36	0.38483	.	.	.	.	.	T	0.50616	0.1626	M	0.65975	2.015	0.09310	N	1	P;P	0.45126	0.767;0.851	B;P	0.50440	0.344;0.641	T	0.35251	-0.9796	9	0.40728	T	0.16	-0.9824	10.7235	0.46055	0.0:0.0:0.8076:0.1924	.	216;403	Q86VE3;E9PB72	SATL1_HUMAN;.	K	216;216;403	ENSP00000378804:Q216K;ENSP00000329115:Q216K;ENSP00000425421:Q403K	ENSP00000329115:Q216K	Q	-	1	0	SATL1	84249424	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.739000	0.26173	0.858000	0.35431	0.556000	0.70494	CAA	.		0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		T	84362768	G	T	84362768	3	4	9	1	0	0	0	0	1	0	0	0	13900	1357	47	3	711	3	SATL1	23	84362768	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	7443870	84362768	70907792	722	2309											
SYTL4	94121	bcgsc.ca	37	chrX	99941088	99941088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttctgccaaaacgacCatgatgccaaactgagaact	8	10	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:99941088C>A	ENST00000372989.1	-	15	1679	c.1348G>T	c.(1348-1350)Ggt>Tgt	p.G450C	SYTL4_ENST00000263033.5_Missense_Mutation_p.G450C|SYTL4_ENST00000455616.1_Missense_Mutation_p.G450C|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.G450C|SYTL4_ENST00000454200.2_Missense_Mutation_p.G452C	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	450	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCAAAACGACCATGATGCCAA	0.463																																					p.G450C		.											.	SYTL4-132	0			c.G1348T						.						71	58	63					X																	99941088		2203	4300	6503	SO:0001583	missense	94121	exon14			AACGACCATGATG		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1348G>T	X.37:g.99941088C>A	ENSP00000362080:p.Gly450Cys	Somatic	139	4		WXS	Illumina GAIIx	Phase_I	157	42	NM_001129896	0	0	0	0	0	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885473	0.91814	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03	5.88	5.88	0.94601	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.098056	0.64402	D	0.000001	T	0.29355	0.0731	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00262	-1.1867	9	.	.	.	-18.0692	19.1445	0.93459	0.0:1.0:0.0:0.0	.	450	Q96C24	SYTL4_HUMAN	C	450;450;452;450;450	ENSP00000362080:G450C;ENSP00000390252:G450C;ENSP00000403556:G452C;ENSP00000276141:G450C;ENSP00000263033:G450C	.	G	-	1	0	SYTL4	99827744	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.294000	0.78760	2.471000	0.83476	0.600000	0.82982	GGT	.		0.463	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		A	99941088	C	A	99941088	3	1	9	1	0	0	0	0	1	0	0	0	15532	594	21	3	687	3	SYTL4	23	99941088	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	15578320	99941088	55329472	723	2310											
NOX1	27035	ucsc.edu;bcgsc.ca	37	chrX	100105369	100105369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaactttggatgggtgcaTaacaacctgtgaatgaagca	10	7	0	2	rs35468984	byFrequency	TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100105369T>C	ENST00000372966.3	-	9	1109	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.M265V|NOX1_ENST00000217885.5_Missense_Mutation_p.M302V	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	302	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GATGGGTGCATAACAACCTGT	0.458													T|||	7	0.0018543	0.0053	0	3775	,	,		15492	0		0	False		,,,				2504	0				p.M302V		.											.	NOX1-131	0			c.A904G						.	T	VAL/MET,VAL/MET	11,3821		0,9,2,1622,568	29	26	27		904,904	1.2	0.1	X	dbSNP_126	27	0,6726		0,0,0,2428,1870	yes	missense,missense	NOX1	NM_007052.4,NM_013955.2	21,21	0,9,2,4050,2438	CC,CT,C,TT,T		0.0,0.2871,0.1042	benign,benign	302/565,302/516	100105369	11,10547	2201	4298	6499	SO:0001583	missense	27035	exon9			GGTGCATAACAAC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.904A>G	X.37:g.100105369T>C	ENSP00000362057:p.Met302Val	Somatic	245	2		WXS	Illumina GAIIx	Phase_I	320	38	NM_013955	0	0	0	0	0	A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	3	0.0018083182640144665	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	3.147	-0.175095	0.06421	0.002871	0.0	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.91351	-2.83;-2.83;-2.83	3.87	1.2	0.21068	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.371258	0.28182	N	0.016293	T	0.74207	0.3686	N	0.11364	0.135	0.34103	D	0.662052	B;B;B	0.30563	0.285;0.006;0.075	B;B;B	0.36959	0.237;0.007;0.063	T	0.71961	-0.4434	10	0.15499	T	0.54	-5.3607	9.5281	0.39175	0.0:0.0:0.3485:0.6515	rs35468984	265;302;302	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	V	302;302;265	ENSP00000362057:M302V;ENSP00000217885:M302V;ENSP00000362051:M265V	ENSP00000217885:M302V	M	-	1	0	NOX1	99992025	0.990000	0.36364	0.088000	0.20740	0.830000	0.47004	0.556000	0.23438	0.363000	0.24346	0.345000	0.21793	ATG	T|0.691;0|0.003		0.458	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		C	100105369	T	C	100105369	3	2	9	1	0	0	0	0	1	0	0	0	10595	1406	49	4	810	4	NOX1	23	100105369	Missense_Mutation	SNP	T	TCGA-OR-A5JA-01A-11D-A29I-10	164281	100105369	55165191	724	2311											
XKRX	402415	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100169962	100169962	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggtgatgcagaggacttCtagtggcccaaggcgaatct	14	8	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100169962C>A	ENST00000372956.2	-	3	1319	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	XKRX_ENST00000328526.5_Nonsense_Mutation_p.E252*|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CAGAGGACTTCTAGTGGCCCA	0.502																																					p.E239X		.											.	XKRX-130	0			c.G715T						.						109	99	102					X																	100169962		2203	4300	6503	SO:0001587	stop_gained	402415	exon3			GGACTTCTAGTGG	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.715G>T	X.37:g.100169962C>A	ENSP00000362047:p.Glu239*	Somatic	296	2		WXS	Illumina GAIIx	Phase_I	358	64	NM_212559	0	0	0	0	0	B2RNN6|B4DKU2|Q5H9J6	Nonsense_Mutation	SNP	ENST00000372956.2	37	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	41	8.764600	0.98945	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	.	.	.	5.52	3.61	0.41365	.	0.263513	0.42420	D	0.000703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.7099	14.542	0.68002	0.0:0.7297:0.2703:0.0	.	.	.	.	X	252;239	.	ENSP00000327570:E252X	E	-	1	0	XKRX	100056618	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.475000	0.60210	1.060000	0.40578	0.544000	0.68410	GAA	.		0.502	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		A	100169962	C	A	100169962	4	1	9	1	0	0	0	0	0	1	0	0	17488	922	32	3	638	3	XKRX	23	100169962	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	64593	100169962	55100598	725	2312											
DRP2	1821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	100500030	100500030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccaggttccctgggaaaGagcaatttcacccaataaag	9	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:100500030G>T	ENST00000395209.3	+	10	1606	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	DRP2_ENST00000402866.1_Missense_Mutation_p.R360I|DRP2_ENST00000538510.1_Missense_Mutation_p.R360I|DRP2_ENST00000541709.1_Missense_Mutation_p.R282I	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	360	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGGAAAGAGCAATTTCA	0.507																																					p.R360I		.											.	DRP2-132	0			c.G1079T						.						191	186	188					X																	100500030		2203	4300	6503	SO:0001583	missense	1821	exon10			GGGAAAGAGCAAT	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1079G>T	X.37:g.100500030G>T	ENSP00000378635:p.Arg360Ile	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	314	41	NM_001939	0	0	0	0	0	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810997	0.90707	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.34	5.34	0.76211	WW/Rsp5/WWP (6);	0.050915	0.85682	D	0.000000	D	0.91573	0.7338	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92754	0.6218	10	0.87932	D	0	-8.6462	17.7184	0.88344	0.0:0.0:1.0:0.0	.	360	Q13474	DRP2_HUMAN	I	360;360;282;360	ENSP00000385038:R360I;ENSP00000378635:R360I;ENSP00000444752:R282I;ENSP00000441051:R360I	ENSP00000378635:R360I	R	+	2	0	DRP2	100386686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.221000	0.72209	0.422000	0.28245	AGA	.		0.507	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100500030	G	T	100500030	3	4	9	1	0	0	0	0	1	0	0	0	4778	942	33	3	1109	3	DRP2	23	100500030	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	330068	100500030	54770530	726	2313											
VSIG1	340547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107320376	107320376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatcttccattcatgagaCtggccctgataccatccaag	6	14	2	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:107320376C>A	ENST00000217957.5	+	7	1046	c.929C>A	c.(928-930)aCt>aAt	p.T310N	VSIG1_ENST00000415430.3_Missense_Mutation_p.T346N	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	310						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ATTCATGAGACTGGCCCTGAT	0.522																																					p.T346N		.											.	VSIG1-132	0			c.C1037A						.						114	103	106					X																	107320376		2203	4300	6503	SO:0001583	missense	340547	exon8			ATGAGACTGGCCC	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.929C>A	X.37:g.107320376C>A	ENSP00000217957:p.Thr310Asn	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	296	62	NM_001170553	0	0	0	0	0	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	8.410	0.843933	0.16963	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.75821	-0.97;-0.74	4.57	-5.71	0.02413	.	2.715710	0.01040	N	0.004297	T	0.60353	0.2262	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39840	-0.9594	10	0.14656	T	0.56	.	1.4184	0.02306	0.4755:0.168:0.1095:0.247	.	346;310	C9J4P2;Q86XK7	.;VSIG1_HUMAN	N	346;310	ENSP00000402219:T346N;ENSP00000217957:T310N	ENSP00000217957:T310N	T	+	2	0	VSIG1	107207032	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.223000	0.09177	-1.396000	0.02071	0.422000	0.28245	ACT	.		0.522	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		A	107320376	C	A	107320376	3	1	9	1	0	0	0	0	1	0	0	0	17271	565	20	3	1067	3	VSIG1	23	107320376	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	6820346	107320376	47950184	727	2314											
COL4A5	1287	broad.mit.edu;bcgsc.ca	37	chrX	107829959	107829959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatacagggtccacctGgccttcctggacctccaggt	11	14	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:107829959G>T	ENST00000361603.2	+	19	1391	c.1147G>T	c.(1147-1149)Ggc>Tgc	p.G383C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G383C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	383	Triple-helical region.		G -> D (in APSX; juvenile type).		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						GGGTCCACCTGGCCTTCCTGG	0.438									Alport syndrome with Diffuse Leiomyomatosis																												p.G383C		.											.	COL4A5-133	0			c.G1147T						.						102	97	99					X																	107829959		2203	4300	6503	SO:0001583	missense	1287	exon19	Familial Cancer Database		CCACCTGGCCTTC	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.1147G>T	X.37:g.107829959G>T	ENSP00000354505:p.Gly383Cys	Somatic	398	1		WXS	Illumina GAIIx	Phase_I	433	15	NM_000495	0	0	1	1	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244390	0.59103	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97553	-4.43;-4.43	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99047	1.0826	10	0.87932	D	0	.	17.8659	0.88795	0.0:0.0:1.0:0.0	.	383;383	E7EVY4;P29400	.;CO4A5_HUMAN	C	383	ENSP00000331902:G383C;ENSP00000354505:G383C	ENSP00000331902:G383C	G	+	1	0	COL4A5	107716615	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.570000	0.73996	2.152000	0.67230	0.284000	0.19432	GGC	.		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107829959	G	T	107829959	3	4	9	1	0	0	0	0	1	0	0	0	3701	1348	47	3	1221	3	COL4A5	23	107829959	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	509583	107829959	47440601	728	2315											
ALG13	79868	ucsc.edu;bcgsc.ca	37	chrX	110980045	110980045	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaagctattagtaccacttCagtttcctcacagaatgcta	5	11	3	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:110980045C>A	ENST00000394780.3	+	23	2645	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Nonsense_Mutation_p.S774*	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	878					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGTACCACTTCAGTTTCCTCA	0.458																																					p.S878X		.											.	ALG13-130	0			c.C2633A						.						245	205	217					X																	110980045		1568	3582	5150	SO:0001587	stop_gained	79868	exon23			CCACTTCAGTTTC	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2633C>A	X.37:g.110980045C>A	ENSP00000378260:p.Ser878*	Somatic	204	3		WXS	Illumina GAIIx	Phase_I	263	64	NM_001099922	0	0	5	5	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Nonsense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676586	0.88445	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	.	.	.	5.31	4.41	0.53225	.	0.305370	0.31323	N	0.007854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-0.0818	13.4381	0.61096	0.1613:0.8387:0.0:0.0	.	.	.	.	X	774;878;511	.	ENSP00000251943:S774X	S	+	2	0	ALG13	110866701	0.723000	0.28027	0.980000	0.43619	0.366000	0.29705	2.452000	0.44961	1.092000	0.41356	0.600000	0.82982	TCA	.		0.458	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		A	110980045	C	A	110980045	4	1	9	1	0	0	0	0	0	1	0	0	515	838	29	3	2865	3	ALG13	23	110980045	Nonsense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3150086	110980045	44290515	729	2316											
ZBTB33	10009	broad.mit.edu;bcgsc.ca	37	chrX	119387850	119387850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attctgatgatgatgatgatGatgtcattttttgctccgag	10	5	2	6			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:119387850G>T	ENST00000326624.2	+	2	808	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D194Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	194					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						tgatgatgatgatgTCATTTT	0.398																																					p.D194Y		.											.	ZBTB33-132	0			c.G580T						.						48	43	44					X																	119387850		2203	4298	6501	SO:0001583	missense	10009	exon2			GATGATGATGTCA	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.580G>T	X.37:g.119387850G>T	ENSP00000314153:p.Asp194Tyr	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	146	21	NM_006777	0	0	1	1	0	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183370	0.57800	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.21543	2.0;2.0	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.42698	0.1214	M	0.63843	1.955	0.58432	D	0.999999	D	0.71674	0.998	D	0.63192	0.912	T	0.05582	-1.0876	10	0.33141	T	0.24	-9.5139	18.2055	0.89853	0.0:0.0:1.0:0.0	.	194	Q86T24	KAISO_HUMAN	Y	194	ENSP00000314153:D194Y;ENSP00000450969:D194Y	ENSP00000314153:D194Y	D	+	1	0	ZBTB33;AC002086.1	119271878	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.310000	0.96267	2.523000	0.85059	0.594000	0.82650	GAT	.		0.398	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		T	119387850	G	T	119387850	3	4	9	1	0	0	0	0	1	0	0	0	17584	1290	45	3	582	3	ZBTB33	23	119387850	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	8407805	119387850	35882710	730	2317											
ELF4	2000	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	129205092	129205092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcttggacacagctttGgagtccaccagtttgaagat	10	10	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:129205092G>T	ENST00000308167.5	-	7	1111	c.732C>A	c.(730-732)tcC>tcA	p.S244S	ELF4_ENST00000335997.7_Silent_p.S244S	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						ACACAGCTTTGGAGTCCACCA	0.517			T	ERG	AML																																p.S244S		.		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4-659	0			c.C732A						.						192	159	170					X																	129205092		2203	4300	6503	SO:0001819	synonymous_variant	2000	exon7			AGCTTTGGAGTCC	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.732C>A	X.37:g.129205092G>T		Somatic	101	3		WXS	Illumina GAIIx	Phase_I	147	13	NM_001421	0	0	3	8	5		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																			.		0.517	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		T	129205092	G	T	129205092	2	4	9	1	0	0	0	0	0	0	0	1	5072	1335	47	3		3	ELF4	23	129205092	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	9817242	129205092	26065468	731	2318											
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	130411109	130411109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaataaagctcatatgCtggtggggggtggagcaatt	14	4	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:130411109C>A	ENST00000361420.3	-	14	2491	c.2412G>T	c.(2410-2412)caG>caT	p.Q804H	IGSF1_ENST00000370904.1_Missense_Mutation_p.Q795H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q795H|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q809H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	804	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTCATATGCTGGTGGGGGG	0.512																																					p.Q809H		.											.	IGSF1-133	0			c.G2427T						.						97	105	102					X																	130411109		2203	4300	6503	SO:0001583	missense	3547	exon14			CATATGCTGGTGG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2412G>T	X.37:g.130411109C>A	ENSP00000355010:p.Gln804His	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	136	10	NM_001170961	0	0	1	1	0	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657597	0.29425	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.39	0.36	0.16097	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.764508	0.11183	N	0.590723	T	0.10208	0.0250	L	0.31752	0.955	0.09310	N	1	B;P;P	0.47484	0.208;0.708;0.896	P;P;P	0.48524	0.552;0.516;0.58	T	0.22977	-1.0201	10	0.56958	D	0.05	.	4.2409	0.10647	0.1574:0.4561:0.0:0.3865	.	795;248;804	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	H	795;804;795;809	ENSP00000359947:Q795H;ENSP00000355010:Q804H;ENSP00000359941:Q795H;ENSP00000359940:Q809H	ENSP00000355010:Q804H	Q	-	3	2	IGSF1	130238790	0.668000	0.27493	0.539000	0.28077	0.470000	0.32858	0.102000	0.15272	-0.049000	0.13379	-0.191000	0.12829	CAG	.		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130411109	C	A	130411109	3	1	9	1	0	0	0	0	1	0	0	0	7623	796	28	3	1626	3	IGSF1	23	130411109	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	1206017	130411109	24859451	732	2319											
TFDP3	51270	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	132352122	132352122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcataccaattaccacttGctggtcaatgttgacactgg	9	10	1	1			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:132352122G>T	ENST00000310125.4	-	1	254	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	56					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ATTACCACTTGCTGGTCAATG	0.567																																					p.Q56K		.											.	TFDP3-131	0			c.C166A						.						97	78	85					X																	132352122		2203	4300	6503	SO:0001583	missense	51270	exon1			CCACTTGCTGGTC	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.166C>A	X.37:g.132352122G>T	ENSP00000385461:p.Gln56Lys	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	234	23	NM_016521	0	0	0	0	0	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560957	0.27827	.	.	ENSG00000183434	ENST00000310125	T	0.23552	1.9	0.235	0.235	0.15431	.	.	.	.	.	T	0.18551	0.0445	L	0.50333	1.59	0.38461	D	0.947209	P	0.43542	0.81	B	0.36666	0.23	T	0.11397	-1.0589	9	0.59425	D	0.04	.	6.1977	0.20559	3.0E-4:0.0:0.9996:0.0	.	56	Q5H9I0	TFDP3_HUMAN	K	56	ENSP00000385461:Q56K	ENSP00000385461:Q56K	Q	-	1	0	TFDP3	132179788	1.000000	0.71417	0.176000	0.23000	0.176000	0.22953	2.730000	0.47335	0.288000	0.22398	0.292000	0.19580	CAA	.		0.567	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		T	132352122	G	T	132352122	3	4	9	1	0	0	0	0	1	0	0	0	15846	1328	46	3	1055	3	TFDP3	23	132352122	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	1941013	132352122	22918438	733	2320											
GPR112	139378	bcgsc.ca	37	chrX	135427145	135427145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccacaaatactggggCactccctatctccacagctg	6	14	1	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:135427145C>A	ENST00000394143.1	+	6	1571	c.1280C>A	c.(1279-1281)gCa>gAa	p.A427E	GPR112_ENST00000394141.1_Missense_Mutation_p.A222E|GPR112_ENST00000287534.4_Missense_Mutation_p.A364E|GPR112_ENST00000412101.1_Missense_Mutation_p.A222E|GPR112_ENST00000370652.1_Missense_Mutation_p.A427E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	427					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATACTGGGGCACTCCCTATC	0.433																																					p.A427E		.											.	GPR112-183	0			c.C1280A						.						86	80	82					X																	135427145		2203	4300	6503	SO:0001583	missense	139378	exon6			CTGGGGCACTCCC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1280C>A	X.37:g.135427145C>A	ENSP00000377699:p.Ala427Glu	Somatic	389	4		WXS	Illumina GAIIx	Phase_I	486	23	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	9.865	1.197366	0.22037	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32753	1.48;1.48;1.44;1.58;1.44	3.78	1.92	0.25849	.	.	.	.	.	T	0.22437	0.0541	N	0.24115	0.695	0.09310	N	1	D;P;P	0.58268	0.982;0.879;0.808	P;B;B	0.49361	0.608;0.404;0.228	T	0.10359	-1.0633	9	0.15952	T	0.53	.	6.1182	0.20137	0.0:0.7463:0.0:0.2537	.	364;222;427	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	E	427;427;222;364;222	ENSP00000377699:A427E;ENSP00000359686:A427E;ENSP00000416526:A222E;ENSP00000287534:A364E;ENSP00000377697:A222E	ENSP00000287534:A364E	A	+	2	0	GPR112	135254811	0.000000	0.05858	0.015000	0.15790	0.020000	0.10135	-0.149000	0.10204	0.204000	0.20548	0.411000	0.27672	GCA	.		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135427145	C	A	135427145	3	1	9	1	0	0	0	0	1	0	0	0	6655	710	25	3	1290	3	GPR112	23	135427145	Missense_Mutation	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	3075023	135427145	19843415	734	2321											
GABRQ	55879	bcgsc.ca	37	chrX	151821117	151821117	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtccacctccgagcaggcCcagctggccacctcggaaag	11	17	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:151821117C>A	ENST00000370306.2	+	9	1292	c.1272C>A	c.(1270-1272)gcC>gcA	p.A424A		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	424					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGAGCAGGCCCAGCTGGCCA	0.657																																					p.A424A		.											.	GABRQ-133	0			c.C1272A						.						58	58	58					X																	151821117		2203	4300	6503	SO:0001819	synonymous_variant	55879	exon9			GCAGGCCCAGCTG	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1272C>A	X.37:g.151821117C>A		Somatic	313	4		WXS	Illumina GAIIx	Phase_I	470	57	NM_018558	0	0	0	0	0	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	CCDS14707.1																																																																																			.		0.657	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		A	151821117	C	A	151821117	2	1	9	1	0	0	0	0	0	0	0	1	6199	610	22	3		3	GABRQ	23	151821117	Silent	SNP	C	TCGA-OR-A5JA-01A-11D-A29I-10	16393972	151821117	3449443	735	2322											
PNMA3	29944	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	152226031	152226031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagaggcggaggctgatgGaatgcttacggggccctgct	16	8	0	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:152226031G>A	ENST00000370264.4	+	1	645	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E207K|PNMA3_ENST00000447306.1_Missense_Mutation_p.E207K			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	207					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gaggctgatggaatgcttacg	0.607																																					p.E207K		.											.	PNMA3-600	0			c.G619A						.						69	67	68					X																	152226031		2203	4300	6503	SO:0001583	missense	29944	exon2			CTGATGGAATGCT	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.619G>A	X.37:g.152226031G>A	ENSP00000359286:p.Glu207Lys	Somatic	64	1		WXS	Illumina GAIIx	Phase_I	102	12	NM_013364	0	0	5	5	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	15.09	2.729986	0.48939	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.12879	2.64;2.64;2.64	1.98	1.98	0.26296	.	.	.	.	.	T	0.19846	0.0477	N	0.25957	0.775	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.09314	-1.0680	9	0.45353	T	0.12	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	207	Q9UL41	PNMA3_HUMAN	K	207	ENSP00000359288:E207K;ENSP00000407642:E207K;ENSP00000359286:E207K	ENSP00000359286:E207K	E	+	1	0	PNMA3	151976687	0.986000	0.35501	0.023000	0.16930	0.009000	0.06853	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GAA	.		0.607	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		A	152226031	G	A	152226031	3	1	9	1	0	0	0	0	1	0	0	0	12194	1175	41	3	621	3	PNMA3	23	152226031	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	404914	152226031	3044529	736	2323											
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152827696	152827696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttggggagctggtctgggGacaggtgagtgacagccctg	19	7	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:152827696G>T	ENST00000349466.2	+	19	3481	c.3155G>T	c.(3154-3156)gGa>gTa	p.G1052V	ATP2B3_ENST00000370186.1_Missense_Mutation_p.G1038V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1052V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1052V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1038V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1038V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1052					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTCTGGGGACAGGTGAGT	0.597																																					p.G1052V		.											.	ATP2B3-109	0			c.G3155T						.						125	97	106					X																	152827696		2203	4300	6503	SO:0001583	missense	492	exon18			TCTGGGGACAGGT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3155G>T	X.37:g.152827696G>T	ENSP00000343886:p.Gly1052Val	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	124	32	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416137	0.83449	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	4.91	4.91	0.64330	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.97110	1.0;0.968;0.96	D	0.99823	1.1048	10	0.87932	D	0	-12.4981	16.1073	0.81234	0.0:0.0:1.0:0.0	.	1038;1052;1052	Q16720-3;Q16720;Q16720-2	.;AT2B3_HUMAN;.	V	1038;1052;1038;1052;1052;1038	ENSP00000359205:G1038V;ENSP00000343886:G1052V;ENSP00000377425:G1038V;ENSP00000352062:G1052V;ENSP00000263519:G1052V;ENSP00000359200:G1038V	ENSP00000263519:G1052V	G	+	2	0	ATP2B3	152480890	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.807000	0.99171	2.053000	0.61076	0.529000	0.55759	GGA	.		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		T	152827696	G	T	152827696	3	4	9	1	0	0	0	0	1	0	0	0	1142	1174	41	3	3225	3	ATP2B3	23	152827696	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	601665	152827696	2442864	737	2324											
PLXNB3	5365	bcgsc.ca	37	chrX	153042778	153042778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgcgggagcgcgaGccagcaagggccaaggccat	16	13	0	0			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:153042778G>T	ENST00000361971.5	+	30	5157	c.5043G>T	c.(5041-5043)gaG>gaT	p.E1681D	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E1334D|PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1704D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1681					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)					GGGAGCGCGAGCCAGCAAGGG	0.672																																					p.E1704D		.											.	PLXNB3-130	0			c.G5112T						.						54	34	41					X																	153042778		2199	4297	6496	SO:0001583	missense	5365	exon31			GCGCGAGCCAGCA	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.5043G>T	X.37:g.153042778G>T	ENSP00000355378:p.Glu1681Asp	Somatic	186	2		WXS	Illumina GAIIx	Phase_I	369	27	NM_001163257	0	0	1	1	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185289	0.38609	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.01767	5.28;5.24;4.65	5.1	-6.44	0.01920	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050012	0.85682	D	0.000000	T	0.03011	0.0089	N	0.25647	0.755	0.45762	D	0.998656	D;P;D	0.89917	1.0;0.846;1.0	D;P;D	0.91635	0.999;0.561;0.999	T	0.03662	-1.1015	10	0.26408	T	0.33	.	11.2473	0.49004	0.6794:0.096:0.2246:0.0	.	1334;1704;1681	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	D	1704;1681;1334	ENSP00000442736:E1704D;ENSP00000355378:E1681D;ENSP00000445569:E1334D	ENSP00000355378:E1681D	E	+	3	2	PLXNB3	152695972	0.998000	0.40836	0.000000	0.03702	0.009000	0.06853	0.512000	0.22755	-1.809000	0.01232	0.529000	0.55759	GAG	.		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153042778	G	T	153042778	3	4	9	1	0	0	0	0	1	0	0	0	12164	962	34	3	5275	3	PLXNB3	23	153042778	Missense_Mutation	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	215082	153042778	2227782	738	2325											
ARHGAP4	393	bcgsc.ca	37	chrX	153184648	153184648	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatgcaggtagtagttactGacagcagcgttgacactagc	11	9	1	2			TCGA-OR-A5JA-01A-11D-A29I-10	TCGA-OR-A5JA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a42d9ff4-e18c-401a-87f4-8485386a7f5c	ae17be6a-90e4-4486-8dac-708ca0178f25	g.chrX:153184648G>T	ENST00000350060.5	-	6	812	c.771C>A	c.(769-771)gtC>gtA	p.V257V	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000370028.3_Silent_p.V297V	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572																																					p.V297V		.											.	ARHGAP4-227	0			c.C891A						.						220	141	168					X																	153184648		2203	4300	6503	SO:0001819	synonymous_variant	393	exon7			GTTACTGACAGCA	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.771C>A	X.37:g.153184648G>T		Somatic	188	2		WXS	Illumina GAIIx	Phase_I	298	16	NM_001164741	0	0	0	0	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982464	0.18889	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52253	-0.8600	4	.	.	.	.	7.6652	0.28426	0.2086:0.0:0.7914:0.0	.	.	.	.	K	145	.	.	Q	-	1	0	ARHGAP4	152837842	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	2.497000	0.45354	0.800000	0.34041	0.479000	0.44913	CAG	.		0.572	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		T	153184648	G	T	153184648	2	4	9	1	0	0	0	0	0	0	0	1	885	1277	45	3		3	ARHGAP4	23	153184648	Silent	SNP	G	TCGA-OR-A5JA-01A-11D-A29I-10	141870	153184648	2085912	739	2326											
SAMD11	148398	hgsc.bcm.edu	37	chr1	877831	877831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcggagatgttcgccTggcagcaggagctcctgcgg	17	12	0	1	rs6672356		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:877831T>C	ENST00000342066.3	+	10	1110	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	343				W -> R (in Ref. 1; AFP36417/AFP36421/ AFP36422, 2; BAB70781 and 4; AAH24295/ AAH33213). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GATGTTCGCCTGGCAGCAGGA	0.776													N|||	5008	1	1	1	5008	,	,		6579	1		1	False		,,,				2504	1				p.W343R		.											.	SAMD11-90	0			c.T1027C						.						2	2	2					1																	877831		1282	2953	4235	SO:0001583	missense	148398	exon10			TTCGCCTGGCAGC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1027T>C	1.37:g.877831T>C	ENSP00000342313:p.Trp343Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_152486	0	0	0	0	0	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	2176	0.9963369963369964	492	1.0	361	0.9972375690607734	569	0.9947552447552448	754	0.9947229551451188	c	0.132	-1.111921	0.01813	.	.	ENSG00000187634	ENST00000342066	.	.	.	3.52	2.51	0.30379	.	0.186377	0.36101	N	0.002790	T	0.00012	0.0000	N	0.00114	-2.085	0.49051	P	2.510000000000012E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35076	-0.9803	8	0.02654	T	1	-1.0006	7.519	0.27616	0.1614:0.742:0.0:0.0966	rs6672356;rs17856721;rs17856973	327;343	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	R	343	.	ENSP00000342313:W343R	W	+	1	0	SAMD11	867694	0.941000	0.31946	0.994000	0.49952	0.466000	0.32739	1.209000	0.32357	0.624000	0.30286	-0.701000	0.03672	TGG	T|0.004;C|0.996		0.776	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		C	877831	T	C	877831	3	2	10	1	0	0	0	0	1	0	0	0	13861	1580	55	4	1061	4	SAMD11	1	877831	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10		877831	248372790	1	2327											
VPS13D	55187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12294377	12294377	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctatttgggaaaatatgtCaataacctgaacactgacca	6	9	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:12294377C>G	ENST00000358136.3	+	2	184	c.54C>G	c.(52-54)gtC>gtG	p.V18V	VPS13D_ENST00000356315.4_Silent_p.V18V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAAATATGTCAATAACCTGA	0.393																																					p.V18V		.											.	VPS13D-95	0			c.C54G						.						138	126	130					1																	12294377		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon2			ATATGTCAATAAC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.54C>G	1.37:g.12294377C>G		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	172	56	NM_015378	0	0	1	1	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																			.		0.393	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12294377	C	G	12294377	2	3	10	1	0	0	0	0	0	0	0	1	17241	813	29	3		3	VPS13D	1	12294377	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	11416546	12294377	236956244	2	2328											
PRAMEF4	400735	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	12939472	12939472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgccttaagtccctcaCtctgttcatcagctcagccc	9	15	5	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:12939472C>T	ENST00000235349.5	-	4	1400	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	444					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCCTCACTCTGTTCATC	0.512																																					p.V444M		.											.	PRAMEF4-45	0			c.G1330A						.						15	15	15					1																	12939472		1417	2461	3878	SO:0001583	missense	400735	exon4			CCCTCACTCTGTT		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1330G>A	1.37:g.12939472C>T	ENSP00000235349:p.Val444Met	Somatic	776	0		WXS	Illumina GAIIx	Phase_I	1237	116	NM_001009611	0	0	0	0	0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915639	0.17907	.	.	ENSG00000243073	ENST00000235349	T	0.47869	0.83	1.48	-2.96	0.05547	.	0.473069	0.18384	N	0.142871	T	0.44095	0.1277	L	0.35723	1.085	0.09310	N	1	D	0.56521	0.976	P	0.59056	0.851	T	0.40270	-0.9572	10	0.59425	D	0.04	.	4.6659	0.12666	0.0:0.4469:0.337:0.2162	.	444	O60810	PRAM4_HUMAN	M	444	ENSP00000235349:V444M	ENSP00000235349:V444M	V	-	1	0	PRAMEF4	12862059	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.546000	0.02188	-0.926000	0.03770	-0.723000	0.03601	GTG	.		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		T	12939472	C	T	12939472	3	4	10	1	0	0	0	0	1	0	0	0	12479	565	20	3	110	3	PRAMEF4	1	12939472	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	645095	12939472	236311149	3	2329											
AGMAT	79814	hgsc.bcm.edu	37	chr1	15911349	15911349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttccggggcgcGtcggaagcctggcggctctg	21	11	1	0	rs3737705	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2	3	3		114	-4.1	0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15911349	G	A	15911349	2	1	10	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15911349	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2971877	15911349	233339272	4	2330											
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24385424	24385424	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagtaccttatcttccAtgatagtggccacatccggc	10	12	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:24385424A>T	ENST00000374434.3	-	36	4202	c.4040T>A	c.(4039-4041)aTg>aAg	p.M1347K	MYOM3_ENST00000338909.5_Missense_Mutation_p.M240K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.M1350K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1347	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)		CTTATCTTCCATGATAGTGGC	0.552																																					p.M1347K		.											.	MYOM3-93	0			c.T4040A						.						59	66	64					1																	24385424		2015	4174	6189	SO:0001583	missense	127294	exon36			TCTTCCATGATAG	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.4040T>A	1.37:g.24385424A>T	ENSP00000363557:p.Met1347Lys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	123	34	NM_152372	0	0	0	0	0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381453	0.61845	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.64438	-0.1;-0.1;-0.1	4.64	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.35723	1.085	0.80722	D	1	P;B	0.38223	0.623;0.055	B;B	0.39379	0.298;0.061	T	0.48592	-0.9022	10	0.05833	T	0.94	.	14.3497	0.66691	1.0:0.0:0.0:0.0	.	1347;240	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	240;1347;1350;241	ENSP00000342689:M240K;ENSP00000363557:M1347K;ENSP00000332670:M1350K	ENSP00000332670:M1350K	M	-	2	0	MYOM3	24258011	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.988000	0.63863	1.842000	0.53543	0.459000	0.35465	ATG	.		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		T	24385424	A	T	24385424	3	4	10	1	0	0	0	0	1	0	0	0	10131	217	8	5	281	5	MYOM3	1	24385424	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	8474075	24385424	224865197	5	2331											
NIPAL3	57185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24786973	24786973	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgatttgctgctgcaggtGcaatattttacctggacttc	9	8	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:24786973G>C	ENST00000374399.4	+	10	1233	c.865G>C	c.(865-867)Gca>Cca	p.A289P	NIPAL3_ENST00000003912.3_Missense_Mutation_p.A207P|NIPAL3_ENST00000339255.2_Missense_Mutation_p.A289P	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	289						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGCTGCAGGTGCAATATTTTA	0.478																																					p.A289P		.											.	NIPAL3-90	0			c.G865C						.						157	134	142					1																	24786973		2203	4300	6503	SO:0001583	missense	57185	exon10			GCAGGTGCAATAT	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.865G>C	1.37:g.24786973G>C	ENSP00000363520:p.Ala289Pro	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	129	51	NM_020448	0	0	0	0	0	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415993	0.83449	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255	D;D;D	0.91351	-2.83;-2.83;-2.83	5.44	5.44	0.79542	.	0.046714	0.85682	D	0.000000	D	0.95971	0.8688	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.955;0.968	D	0.96301	0.9221	10	0.72032	D	0.01	-15.4551	19.2442	0.93895	0.0:0.0:1.0:0.0	.	289;289	Q6P499;A6NN97	NPAL3_HUMAN;.	P	289;207;289	ENSP00000363520:A289P;ENSP00000003912:A207P;ENSP00000343549:A289P	ENSP00000003912:A207P	A	+	1	0	NIPAL3	24659560	1.000000	0.71417	0.444000	0.26895	0.124000	0.20399	5.986000	0.70563	2.561000	0.86390	0.655000	0.94253	GCA	.		0.478	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		C	24786973	G	C	24786973	3	2	10	1	0	0	0	0	1	0	0	0	10465	1319	46	3	899	3	NIPAL3	1	24786973	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	401549	24786973	224463648	6	2332											
BAI2	576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32209956	32209956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactcctcagccgccgggtCgcctacgagagagggacagc	13	16	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:32209956C>T	ENST00000373658.3	-	6	1266	c.925G>A	c.(925-927)Gac>Aac	p.D309N	BAI2_ENST00000398556.3_Intron|BAI2_ENST00000398547.1_Intron|BAI2_ENST00000527361.1_Missense_Mutation_p.D309N|BAI2_ENST00000398538.1_Missense_Mutation_p.D297N|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000257070.4_Missense_Mutation_p.D309N|BAI2_ENST00000398542.1_Missense_Mutation_p.D297N|BAI2_ENST00000373655.2_Missense_Mutation_p.D309N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	309	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCGCCGGGTCGCCTACGAGA	0.672																																					p.D309N		.											.	BAI2-526	0			c.G925A						.						16	16	16					1																	32209956		1966	3781	5747	SO:0001583	missense	576	exon6			CCGGGTCGCCTAC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.925G>A	1.37:g.32209956C>T	ENSP00000362762:p.Asp309Asn	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	86	30	NM_001703	0	0	0	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376939	0.82682	.	.	ENSG00000121753	ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T	0.62364	0.82;0.83;1.8;0.03;0.03;0.03;1.38	4.43	4.43	0.53597	.	0.000000	0.34580	N	0.003847	T	0.71710	0.3372	L	0.41415	1.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.74674	0.984;0.957;0.968;0.973	T	0.75494	-0.3298	10	0.72032	D	0.01	.	16.2115	0.82165	0.0:1.0:0.0:0.0	.	309;297;309;309	O60241-4;A2A3C1;O60241-2;O60241	.;.;.;BAI2_HUMAN	N	309;309;297;309;309;297;302	ENSP00000362762:D309N;ENSP00000362759:D309N;ENSP00000381550:D297N;ENSP00000257070:D309N;ENSP00000435397:D309N;ENSP00000381548:D297N;ENSP00000410921:D302N	ENSP00000257070:D309N	D	-	1	0	BAI2	31982543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.369000	0.79578	2.180000	0.69256	0.462000	0.41574	GAC	.		0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32209956	C	T	32209956	3	4	10	1	0	0	0	0	1	0	0	0	1300	884	31	1	3944	1	BAI2	1	32209956	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7422983	32209956	217040665	7	2333											
EPHA10	284656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	38230726	38230726	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcgggtgtggaccggCgcaggtctccatggtccgca	17	13	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:38230726C>G	ENST00000373048.4	-	1	12	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	EPHA10_ENST00000427468.2_Missense_Mutation_p.A5P|EPHA10_ENST00000319637.6_Missense_Mutation_p.A5P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	5					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTGGACCGGCGCAGGTCTCC	0.692																																					p.A5P		.											.	EPHA10-1246	0			c.G13C						.						10	12	11					1																	38230726		2197	4288	6485	SO:0001583	missense	284656	exon1			GACCGGCGCAGGT	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.13G>C	1.37:g.38230726C>G	ENSP00000362139:p.Ala5Pro	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	71	28	NM_001099439	0	0	0	0	0	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013342	0.54468	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.77489	-1.1;-1.09;4.3	5.19	3.29	0.37713	.	0.213109	0.23734	N	0.045086	T	0.60663	0.2286	N	0.19112	0.55	0.21325	N	0.999723	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.51624	-0.8682	10	0.46703	T	0.11	.	7.1758	0.25744	0.0:0.7379:0.1708:0.0913	.	5;5	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	P	5	ENSP00000397746:A5P;ENSP00000362139:A5P;ENSP00000316395:A5P	ENSP00000316395:A5P	A	-	1	0	EPHA10	38003313	0.994000	0.37717	0.218000	0.23776	0.803000	0.45373	3.719000	0.54926	0.741000	0.32674	0.637000	0.83480	GCC	.		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		G	38230726	C	G	38230726	3	3	10	1	0	0	0	0	1	0	0	0	5182	768	27	2	3119	2	EPHA10	1	38230726	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	6020770	38230726	211019895	8	2334											
DEM1	64789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	40981323	40981323	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctacactggcgccccaagtCaaaaaagccaaatgaataga	7	11	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:40981323C>G	ENST00000372703.1	+	2	2181	c.1107C>G	c.(1105-1107)gtC>gtG	p.V369V	EXO5_ENST00000296380.4_Silent_p.V369V|EXO5_ENST00000358527.2_Silent_p.V369V|RP11-656D10.6_ENST00000437060.1_RNA|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	369					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										CGCCCCAAGTCAAAAAAGCCA	0.493																																					p.V369V		.											.	.	0			c.C1107G						.						41	42	42					1																	40981323		2203	4294	6497	SO:0001819	synonymous_variant	64789	exon3			CCAAGTCAAAAAA	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.1107C>G	1.37:g.40981323C>G		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	119	31	NM_022774	0	0	10	16	6	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Silent	SNP	ENST00000372703.1	37	CCDS453.1																																																																																			.		0.493	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		G	40981323	C	G	40981323	2	3	10	1	0	0	0	0	0	0	0	1	4439	813	29	3		3	DEM1	1	40981323	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2750597	40981323	208269298	9	2335											
TTC4	7268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	55188440	55188440	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgccaaagagaagaagcttCtggaaatgagggctaaagca	12	6	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:55188440C>G	ENST00000371281.3	+	5	649	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	188										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAAGAAGCTTCTGGAAATGAG	0.458																																					p.L188V		.											.	TTC4-90	0			c.C562G						.						118	111	113					1																	55188440		2203	4300	6503	SO:0001583	missense	7268	exon5			AAGCTTCTGGAAA		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.562C>G	1.37:g.55188440C>G	ENSP00000360329:p.Leu188Val	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	244	51	NM_004623	0	0	9	16	7	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	CCDS596.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718889	0.48622	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.15718	2.4	5.42	2.44	0.29823	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.14917	0.0360	M	0.78916	2.43	0.36879	D	0.889302	B;P	0.45176	0.245;0.852	B;B	0.37198	0.212;0.243	T	0.20706	-1.0267	9	0.13853	T	0.58	-2.5128	4.6512	0.12596	0.1579:0.6039:0.0:0.2382	.	188;199	O95801;Q5TA95	TTC4_HUMAN;.	V	188;199	ENSP00000360329:L188V	ENSP00000360329:L188V	L	+	1	2	TTC4	54961028	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	0.159000	0.16442	0.732000	0.32470	0.460000	0.39030	CTG	.		0.458	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		G	55188440	C	G	55188440	3	3	10	1	0	0	0	0	1	0	0	0	16759	912	32	3	580	3	TTC4	1	55188440	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	14207117	55188440	194062181	10	2336											
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67098763	67098763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgttacagaggttcaccaGatagagatggaattgtaagt	11	4	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:67098763G>A	ENST00000371037.4	+	3	162	c.85G>A	c.(85-87)Gat>Aat	p.D29N	SGIP1_ENST00000371035.3_Missense_Mutation_p.D29N|SGIP1_ENST00000371036.3_Missense_Mutation_p.D28N|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.D29N|SGIP1_ENST00000371039.1_Missense_Mutation_p.D29N	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	29					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGTTCACCAGATAGAGATGG	0.308																																					p.D29N		.											.	SGIP1-93	0			c.G85A						.						167	185	179					1																	67098763		2203	4300	6503	SO:0001583	missense	84251	exon3			TCACCAGATAGAG	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.85G>A	1.37:g.67098763G>A	ENSP00000360076:p.Asp29Asn	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	87	39	NM_032291	0	0	0	0	0	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687255	0.88639	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.38077	1.16;2.29;1.56;1.91;2.16;1.64	5.83	5.83	0.93111	.	0.102838	0.64402	D	0.000004	T	0.50000	0.1590	L	0.59436	1.845	0.45662	D	0.998588	D	0.63880	0.993	D	0.74674	0.984	T	0.29941	-0.9995	10	0.39692	T	0.17	-18.658	18.8905	0.92399	0.0:0.0:1.0:0.0	.	29	Q9BQI5	SGIP1_HUMAN	N	29;29;29;29;28;28;28;29	ENSP00000237247:D29N;ENSP00000360078:D29N;ENSP00000410439:D29N;ENSP00000360074:D29N;ENSP00000360075:D28N;ENSP00000360076:D29N	ENSP00000237247:D29N	D	+	1	0	SGIP1	66871351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.140000	0.89616	2.763000	0.94921	0.555000	0.69702	GAT	.		0.308	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67098763	G	A	67098763	3	1	10	1	0	0	0	0	1	0	0	0	14251	942	33	3	95	3	SGIP1	1	67098763	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	11910323	67098763	182151858	11	2337											
ZRANB2	9406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	71538205	71538205	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctatatattcaacattttCtctttcattaaaaccaccac	0	11	4	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:71538205C>T	ENST00000370920.3	-	5	629	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E110K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	110					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCAACATTTTCTCTTTCATTA	0.303																																					p.E110K		.											.	ZRANB2-92	0			c.G328A						.						64	68	67					1																	71538205		2201	4290	6491	SO:0001583	missense	9406	exon5			CATTTTCTCTTTC	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.328G>A	1.37:g.71538205C>T	ENSP00000359958:p.Glu110Lys	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	161	32	NM_005455	0	0	11	14	3	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714597	0.89112	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.66280	-0.2;-0.2	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	L	0.56769	1.78	0.80722	D	1	P;P	0.52170	0.88;0.951	P;P	0.62184	0.899;0.648	T	0.67554	-0.5641	10	0.40728	T	0.16	.	19.0069	0.92854	0.0:1.0:0.0:0.0	.	110;110	O95218;O95218-2	ZRAB2_HUMAN;.	K	110	ENSP00000359958:E110K;ENSP00000254821:E110K	ENSP00000254821:E110K	E	-	1	0	ZRANB2	71310793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.503000	0.84419	0.460000	0.39030	GAA	.		0.303	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		T	71538205	C	T	71538205	3	4	10	1	0	0	0	0	1	0	0	0	18271	922	32	3	726	3	ZRANB2	1	71538205	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4439442	71538205	177712416	12	2338											
TNNI3K	100526835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	74929142	74929142	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcggctgcggcagcagacAtggcttaccaccacatcaga	11	14	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:74929142A>T	ENST00000370899.3	+	23	2369	c.2332A>T	c.(2332-2334)Atg>Ttg	p.M778L	TNNI3K_ENST00000370891.2_Missense_Mutation_p.M778L|TNNI3K_ENST00000326637.3_Missense_Mutation_p.M677L|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.M791L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCAGCAGACATGGCTTACCA	0.463																																					p.M778L		.											.	.	0			c.A2332T						.						141	136	137					1																	74929142		2203	4300	6503	SO:0001583	missense	100526835	exon23			GCAGACATGGCTT			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2332A>T	1.37:g.74929142A>T	ENSP00000359936:p.Met778Leu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	191	98	NM_001199327	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.107894	0.77096	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.91	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	N	0.13140	0.3	0.51767	D	0.999937	P;P;P	0.47677	0.899;0.877;0.592	P;P;B	0.48654	0.585;0.45;0.371	T	0.70392	-0.4884	10	0.62326	D	0.03	.	11.4506	0.50149	0.9294:0.0:0.0705:0.0	.	677;778;778	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	L	778;778;778;677	ENSP00000359936:M778L;ENSP00000450895:M778L;ENSP00000359928:M778L;ENSP00000322251:M677L	ENSP00000322251:M677L	M	+	1	0	RP11-653A5.2;AC093158.1	74701730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.659000	0.68010	1.074000	0.40909	0.533000	0.62120	ATG	.		0.463	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			T	74929142	A	T	74929142	3	4	10	1	0	0	0	0	1	0	0	0	16376	217	8	5	2466	5	TNNI3K	1	74929142	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	3390937	74929142	174321479	13	2339											
C1orf173	127254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	75038013	75038013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctccacaggtgcttcgttCtcagcatcagatcccatttc	7	15	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:75038013C>G	ENST00000326665.5	-	14	3599	c.3381G>C	c.(3379-3381)gaG>gaC	p.E1127D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1127	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						GTGCTTCGTTCTCAGCATCAG	0.458																																					p.E1127D		.											.	C1orf173-94	0			c.G3381C						.						77	83	81					1																	75038013		2203	4300	6503	SO:0001583	missense	127254	exon14			TTCGTTCTCAGCA																												ENST00000326665.5:c.3381G>C	1.37:g.75038013C>G	ENSP00000322609:p.Glu1127Asp	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	18	6	NM_001002912	0	0	0	0	0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770477	0.49680	.	.	ENSG00000178965	ENST00000326665	T	0.15718	2.4	4.44	2.51	0.30379	.	.	.	.	.	T	0.11623	0.0283	L	0.40543	1.245	0.28937	N	0.891204	D	0.56035	0.974	P	0.57009	0.811	T	0.11203	-1.0597	9	0.31617	T	0.26	-2.9556	10.1592	0.42842	0.0:0.8338:0.0:0.1662	.	1127	Q5RHP9	CA173_HUMAN	D	1127	ENSP00000322609:E1127D	ENSP00000322609:E1127D	E	-	3	2	C1orf173	74810601	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.286000	0.08399	0.415000	0.25817	0.561000	0.74099	GAG	.		0.458	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75038013	C	G	75038013	3	3	10	1	0	0	0	0	1	0	0	0	2021	912	32	3	1215	3	C1orf173	1	75038013	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	108871	75038013	174212608	14	2340											
SLC44A5	204962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	75805310	75805310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctgggtcatatgtccttgGatcacctgcatttaaaacaa	7	9	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:75805310G>T	ENST00000370855.5	-	4	171	c.58C>A	c.(58-60)Cca>Aca	p.P20T	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P20T|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	20					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TATGTCCTTGGATCACCTGCA	0.328																																					p.P20T		.											.	SLC44A5-95	0			c.C58A						.						183	201	195					1																	75805310		2203	4300	6503	SO:0001583	missense	204962	exon4			TCCTTGGATCACC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.58C>A	1.37:g.75805310G>T	ENSP00000359892:p.Pro20Thr	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	57	37	NM_001130058	0	0	0	0	0	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445478	0.25987	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.55760	0.5;0.5	5.54	-2.44	0.06502	.	0.268388	0.36972	N	0.002317	T	0.46288	0.1385	M	0.83118	2.625	0.19575	N	0.999966	D;D;D;D	0.65815	0.991;0.969;0.982;0.995	P;P;P;P	0.62649	0.885;0.805;0.806;0.905	T	0.44574	-0.9319	10	0.59425	D	0.04	0.1039	1.3355	0.02144	0.3:0.2645:0.3123:0.1232	.	14;59;20;20	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2	.;.;CTL5_HUMAN;.	T	20;59;20;13	ENSP00000359896:P20T;ENSP00000359892:P20T	ENSP00000359892:P20T	P	-	1	0	SLC44A5	75577898	0.067000	0.21026	0.000000	0.03702	0.461000	0.32589	0.089000	0.15002	-0.688000	0.05155	-1.142000	0.01873	CCA	.		0.328	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		T	75805310	G	T	75805310	3	4	10	1	0	0	0	0	1	0	0	0	14684	1174	41	3	2296	3	SLC44A5	1	75805310	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	767297	75805310	173445311	15	2341											
ELTD1	64123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	79385979	79385980	+	Missense_Mutation	DNP	CC	CC	AA													ctttgaatttcactgaagaaCcagaaggtaaaaatgcatat							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:79385979_79385980CC>AA	ENST00000370742.3	-	10	1412_1413	c.1349_1350GG>TT	c.(1348-1350)tGG>tTT	p.W450F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	450					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACTGAAGAACCAGAAGGTAAA	0.332																																					p.W450F		.											.	ELTD1-24	0			c.G1349T						.																																			SO:0001583	missense	64123	exon10			AAGAACCAGAAGG	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1349_1350delinsAA	1.37:g.79385979_79385980delinsAA	ENSP00000359778:p.Trp450Phe	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	45	6	NM_022159	0	0	0	0	0	B1AR71|Q5KU34	Missense_Mutation	DNP	ENST00000370742.3	37	CCDS41352.1																																																																																			.		0.332	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		AA	79385980	CC	AA	79385979	3	1	10	1	0	0	0	0	1	0	0	0	5100	508	18	3	746	3	ELTD1	1	79385979	Missense_Mutation	DNP	CC	TCGA-OR-A5JB-01A-11D-A29I-10	3580669	79385979	169864642	16	2342											
SAMD13	148418	hgsc.bcm.edu	37	chr1	84764249	84764249	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcggccatgcggggAggtaagtgatctgcctgtgc	17	12	1	1	rs1156085	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:84764249A>G	ENST00000370671.3	+	0	0				SAMD13_ENST00000370673.3_Splice_Site_p.G3G			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13											lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CCATGCGGGGAGGTAAGTGAT	0.716													A|||	77	0.0153754	0.0371	0.0115	5008	,	,		11629	0		0.0159	False		,,,				2504	0.0041				p.G3G		.											.	SAMD13-226	0			c.A9G						.	A		87,4279		2,83,2098	15	17	16		9	1.4	0.1	1	dbSNP_87	16	95,8449		0,95,4177	yes	coding-synonymous-near-splice	SAMD13	NM_001010971.2		2,178,6275	GG,GA,AA		1.1119,1.9927,1.4098		3/117	84764249	182,12728	2183	4272	6455	SO:0001631	upstream_gene_variant	148418	exon1			GCGGGGAGGTAAG		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"Sterile alpha motif (SAM) domain containing"	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859		1.37:g.84764249A>G	Exception_encountered	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	49	14	NM_001010971	0	0	0	0	0	B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Silent	SNP	ENST00000370671.3	37																																																																																				A|0.979;G|0.021		0.716	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		G	84764249	A	G	84764249	1	3	10	0	1	0	0	0	0	0	0	0	13863	318	11	4		4	SAMD13	1	84764249	5'Flank	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	5378270	84764249	164486372	17	2343											
WDR47	22911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	109544988	109544988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatagcgtaatctttgccTataatattcttgaaattgtt	6	5	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:109544988T>C	ENST00000369962.3	-	7	1513	c.1291A>G	c.(1291-1293)Agg>Ggg	p.R431G	WDR47_ENST00000357672.3_Missense_Mutation_p.R403G|WDR47_ENST00000361054.3_Missense_Mutation_p.R403G|WDR47_ENST00000400794.3_Missense_Mutation_p.R439G|WDR47_ENST00000369965.4_Missense_Mutation_p.R432G			O94967	WDR47_HUMAN	WD repeat domain 47	431	Gln-rich.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AATCTTTGCCTATAATATTCT	0.353																																					p.R439G		.											.	WDR47-91	0			c.A1315G						.						111	95	100					1																	109544988		2203	4300	6503	SO:0001583	missense	22911	exon7			TTTGCCTATAATA	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1291A>G	1.37:g.109544988T>C	ENSP00000358979:p.Arg431Gly	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_001142550	0	0	0	0	0	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694813	0.68386	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58940	0.31;0.34;0.3;0.31;0.3	5.08	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.32530	0.975	0.58432	D	0.999993	D;D;D;D	0.76494	0.989;0.999;0.999;0.989	D;D;D;D	0.78314	0.985;0.991;0.991;0.985	T	0.58544	-0.7618	10	0.59425	D	0.04	-10.1447	10.881	0.46937	0.0:0.0:0.3016:0.6983	.	403;439;431;432	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	G	439;431;403;432;403	ENSP00000383599:R439G;ENSP00000358979:R431G;ENSP00000354339:R403G;ENSP00000358982:R432G;ENSP00000350301:R403G	ENSP00000350301:R403G	R	-	1	2	WDR47	109346511	0.982000	0.34865	0.998000	0.56505	0.995000	0.86356	1.593000	0.36686	0.743000	0.32719	0.402000	0.26972	AGG	.		0.353	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		C	109544988	T	C	109544988	3	2	10	1	0	0	0	0	1	0	0	0	17349	1521	53	4	1504	4	WDR47	1	109544988	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	24780739	109544988	139705633	18	2344											
CEPT1	10390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	111725483	111725483	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attacattagctgcaatgatCtacaagaaatctgcagttca	6	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:111725483C>A	ENST00000545121.1	+	7	1117	c.909C>A	c.(907-909)atC>atA	p.I303I	CEPT1_ENST00000357172.4_Silent_p.I303I|RP5-1180E21.5_ENST00000610049.1_RNA|RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	303					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTGCAATGATCTACAAGAAAT	0.358																																					p.I303I		.											.	CEPT1-90	0			c.C909A						.						209	195	200					1																	111725483		2203	4300	6503	SO:0001819	synonymous_variant	10390	exon7			AATGATCTACAAG	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.909C>A	1.37:g.111725483C>A		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	212	104	NM_001007794	0	0	4	15	11	Q69YJ9|Q9P0Y8	Silent	SNP	ENST00000545121.1	37	CCDS830.1																																																																																			.		0.358	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		A	111725483	C	A	111725483	2	1	10	1	0	0	0	0	0	0	0	1	3271	903	32	3		3	CEPT1	1	111725483	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2180495	111725483	137525138	19	2345											
HSD3B1	3283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	120056635	120056635	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagcaaaaagcttgctgaGaaggctgtactggcggctaa	12	9	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120056635G>A	ENST00000369413.3	+	4	634	c.489G>A	c.(487-489)gaG>gaA	p.E163E	HSD3B1_ENST00000528909.1_Silent_p.E163E|HSD3B1_ENST00000235547.6_Silent_p.E165E			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	163					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AGCTTGCTGAGAAGGCTGTAC	0.522																																					p.E163E		.											.	HSD3B1-92	0			c.G489A						.						84	86	85					1																	120056635		2203	4300	6503	SO:0001819	synonymous_variant	3283	exon4			TGCTGAGAAGGCT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.489G>A	1.37:g.120056635G>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	76	32	NM_000862	0	0	0	0	0	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																			.		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		A	120056635	G	A	120056635	2	1	10	1	0	0	0	0	0	0	0	1	7417	933	33	3		3	HSD3B1	1	120056635	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	8331152	120056635	129193986	20	2346											
NBPF7	343505	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	120385066	120385066	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccccctcacctgagctcctCagcttgcttgagctgctctg	9	17	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120385066C>G								REG4 (30783 upstream) : ADAM30 (51089 downstream)																							CTGAGCTCCTCAGCTTGCTTG	0.527																																					p.E110Q		.											.	NBPF7-24	0			c.G328C						.						125	134	131					1																	120385066		1989	4189	6178	SO:0001628	intergenic_variant	343505	exon2			GCTCCTCAGCTTG																													1.37:g.120385066C>G		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	69	37	NM_001047980	0	0	1	1	0		Missense_Mutation	SNP		37																																																																																				.	0	0.527									G	120385066	C	G	120385066	1	3	10	0	1	0	0	0	0	0	0	0	10237	835	29	3		3	NBPF7	1	120385066	IGR	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	328431	120385066	128865555	21	2347											
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactctggatatccaacgcGtattttgttaaaatctgtcc	6	9	2	0	rs200088734		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120438173G>A	ENST00000369400.1	-	1	945	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		TATCCAACGCGTATTTTGTTA	0.358																																					p.R263C		.											.	ADAM30-228	0			c.C787T						.						71	75	74					1																	120438173		2203	4300	6503	SO:0001583	missense	11085	exon1			CAACGCGTATTTT	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.787C>T	1.37:g.120438173G>A	ENSP00000358407:p.Arg263Cys	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	30	12	NM_021794	0	0	0	0	0	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305153	0.40795	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10288	2.89	4.59	-4.04	0.04010	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.100920	0.02924	N	0.138395	T	0.07818	0.0196	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	D	0.63488	0.915	T	0.16305	-1.0407	10	0.54805	T	0.06	.	1.2267	0.01934	0.1532:0.3261:0.2621:0.2586	.	263	Q9UKF2	ADA30_HUMAN	C	263	ENSP00000358407:R263C	ENSP00000358407:R263C	R	-	1	0	ADAM30	120239696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.244000	0.02902	-0.640000	0.05495	-0.471000	0.05019	CGC	.		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120438173	G	A	120438173	3	1	10	1	0	0	0	0	1	0	0	0	248	1145	40	1	1589	1	ADAM30	1	120438173	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	53107	120438173	128812448	22	2348											
C1orf54	79630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150248174	150248174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtgcagatttcaccaTtgattactccatatttgagt	6	8	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:150248174T>C	ENST00000369102.1	+	5	925	c.155T>C	c.(154-156)aTt>aCt	p.I52T	C1orf54_ENST00000369099.3_Missense_Mutation_p.I52T|C1orf54_ENST00000369098.3_Missense_Mutation_p.I52T			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	52						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	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)			GATTTCACCATTGATTACTCC	0.368																																					p.I52T		.											.	C1orf54-90	0			c.T155C						.						86	83	84					1																	150248174		2203	4300	6503	SO:0001583	missense	79630	exon3			TCACCATTGATTA	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.155T>C	1.37:g.150248174T>C	ENSP00000358098:p.Ile52Thr	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	199	85	NM_024579	0	0	53	54	1	Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	CCDS948.1	.	.	.	.	.	.	.	.	.	.	t	12.45	1.941185	0.34283	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	3.82	0.43975	.	0.509323	0.16618	N	0.206621	T	0.09905	0.0243	N	0.22421	0.69	0.21325	N	0.999722	P;P	0.36535	0.557;0.557	B;B	0.34242	0.178;0.128	T	0.07309	-1.0779	9	0.30078	T	0.28	-3.2177	9.2837	0.37744	0.0:0.0:0.0:1.0	.	52;52	Q5TB16;Q8WWF1	.;CA054_HUMAN	T	52	.	ENSP00000358094:I52T	I	+	2	0	C1orf54	148514798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	1.967000	0.57214	0.492000	0.49549	ATT	.		0.368	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579		C	150248174	T	C	150248174	3	2	10	1	0	0	0	0	1	0	0	0	2053	1493	52	4	165	4	C1orf54	1	150248174	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	29810001	150248174	99002447	23	2349											
HRNR	388697	broad.mit.edu;bcgsc.ca	37	chr1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgttGttcacccctagatgactgtc	9	12	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152188371G>T	ENST00000368801.2	-	3	5809	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1912					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)			GATCCGTGTTGTTCACCCCTA	0.557																																					p.Q1912K		.											.	HRNR-93	0			c.C5734A						.						843	1223	1095					1																	152188371		2174	4298	6472	SO:0001583	missense	388697	exon3			CGTGTTGTTCACC	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.5734C>A	1.37:g.152188371G>T	ENSP00000357791:p.Gln1912Lys	Somatic	1519	1		WXS	Illumina GAIIx	Phase_I	3986	242	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	6.324	0.427854	0.11987	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	3.73	-1.0	0.10196	.	.	.	.	.	T	0.00496	0.0016	L	0.32530	0.975	0.09310	N	1	B	0.34103	0.437	B	0.21151	0.033	T	0.42799	-0.9430	9	0.05436	T	0.98	.	8.0291	0.30454	0.0:0.5048:0.3234:0.1718	.	1912	Q86YZ3	HORN_HUMAN	K	1912	ENSP00000357791:Q1912K	ENSP00000357791:Q1912K	Q	-	1	0	HRNR	150454995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.169000	0.09911	0.030000	0.15379	-0.265000	0.10407	CAA	.		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152188371	G	T	152188371	3	4	10	1	0	0	0	0	1	0	0	0	7386	1386	48	3	2822	3	HRNR	1	152188371	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1940197	152188371	97062250	24	2350											
FLG	2312	hgsc.bcm.edu;bcgsc.ca	37	chr1	152276933	152276933	+	Frame_Shift_Del	DEL	G	G	-													tctggatcctgactgcccacGggaggcatcagaccttccct							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152276933delG	ENST00000368799.1	-	3	10464	c.10429delC	c.(10429-10431)cgtfs	p.R3477fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3477	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)			GACTGCCCACGGGAGGCATCA	0.557									Ichthyosis																												p.R3477fs		.											.	FLG-106	0			c.10429delC						.						290	279	283					1																	152276933		2203	4298	6501	SO:0001589	frameshift_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCCCACGGGAGGC	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.10429delC	1.37:g.152276933delG	ENSP00000357789:p.Arg3477fs	Somatic	145	2		WXS	Illumina GAIIx	Phase_I	504	212	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		-	152276933	G	-	152276933	7	5	10	1	0	1	0	1	0	0	0	0	5944	1116	39	0	1760	0	FLG	1	152276933	Frame_Shift_Del	DEL	G	TCGA-OR-A5JB-01A-11D-A29I-10	88562	152276933	96973688	25	2351											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152286710	152286710	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcattcttcctgtattttCataatcatatactccttctt	2	10	5	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152286710C>T	ENST00000368799.1	-	3	687	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	218					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)			CCTGTATTTTCATAATCATAT	0.353									Ichthyosis																												p.E218K		.											.	FLG-106	0			c.G652A						.						103	110	108					1																	152286710		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TATTTTCATAATC	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.652G>A	1.37:g.152286710C>T	ENSP00000357789:p.Glu218Lys	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	123	25	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099743	0.37048	.	.	ENSG00000143631	ENST00000368799	T	0.00695	5.83	4.54	-1.03	0.10102	.	.	.	.	.	T	0.00356	0.0011	L	0.46157	1.445	0.09310	N	1	D	0.53151	0.958	P	0.49799	0.622	T	0.36335	-0.9752	9	0.10636	T	0.68	.	3.8888	0.09110	0.1596:0.4627:0.0:0.3777	.	218	P20930	FILA_HUMAN	K	218	ENSP00000357789:E218K	ENSP00000357789:E218K	E	-	1	0	FLG	150553334	0.001000	0.12720	0.000000	0.03702	0.193000	0.23685	0.955000	0.29188	-0.053000	0.13289	0.460000	0.39030	GAA	.		0.353	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286710	C	T	152286710	3	4	10	1	0	0	0	0	1	0	0	0	5944	835	29	3	11537	3	FLG	1	152286710	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	9777	152286710	96963911	26	2352											
LCE4A	199834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152681610	152681610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgtcctatccccaAgtatcccccaaaatgtccct	4	17	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152681610A>G	ENST00000368777.1	+	2	315	c.59A>G	c.(58-60)aAg>aGg	p.K20R	LCE4A_ENST00000335535.3_Missense_Mutation_p.K20R			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	20	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)			CCTATCCCCAAGTATCCCCCA	0.527																																					p.K20R		.											.	LCE4A-90	0			c.A59G						.						117	129	125					1																	152681610		2203	4300	6503	SO:0001583	missense	199834	exon1			TCCCCAAGTATCC	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	ENST00000368777.1:c.59A>G	1.37:g.152681610A>G	ENSP00000357766:p.Lys20Arg	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	356	66	NM_178356	0	0	0	0	0	Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.304922	0.05495	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.05025	3.51;3.51	3.69	3.69	0.42338	.	.	.	.	.	T	0.06962	0.0177	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.55055	0.767	T	0.16482	-1.0401	8	0.87932	D	0	.	8.6727	0.34161	1.0:0.0:0.0:0.0	.	20	Q5TA78	LCE4A_HUMAN	R	20	ENSP00000357766:K20R;ENSP00000335223:K20R	ENSP00000335223:K20R	K	+	2	0	LCE4A	150948234	0.045000	0.20229	0.003000	0.11579	0.093000	0.18481	1.689000	0.37700	1.521000	0.48983	0.254000	0.18369	AAG	.		0.527	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		G	152681610	A	G	152681610	3	3	10	1	0	0	0	0	1	0	0	0	8702	72	3	4	61	4	LCE4A	1	152681610	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	394900	152681610	96569011	27	2353											
SPRR4	163778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152944424	152944424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccccagagggcccagCagcagcaagtgaagcagcct	12	16	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152944424C>A	ENST00000328051.2	+	2	107	c.58C>A	c.(58-60)Cag>Aag	p.Q20K		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	20	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGCCCAGCAGCAGCAAGT	0.577																																					p.Q20K		.											.	SPRR4-68	0			c.C58A						.						101	95	97					1																	152944424		2203	4300	6503	SO:0001583	missense	163778	exon2			GCCCAGCAGCAGC	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.58C>A	1.37:g.152944424C>A	ENSP00000332163:p.Gln20Lys	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	423	73	NM_173080	0	0	0	0	0	Q2M1Y7|Q5T522	Missense_Mutation	SNP	ENST00000328051.2	37	CCDS1031.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707644	0.15239	.	.	ENSG00000184148	ENST00000328051	T	0.13657	2.57	4.75	3.82	0.43975	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.27306	N	0.957442	B	0.27700	0.186	B	0.28385	0.089	T	0.30387	-0.9980	8	0.87932	D	0	-2.064	10.0571	0.42252	0.2009:0.799:0.0:0.0	.	20	Q96PI1	SPRR4_HUMAN	K	20	ENSP00000332163:Q20K	ENSP00000332163:Q20K	Q	+	1	0	SPRR4	151211048	1.000000	0.71417	0.998000	0.56505	0.283000	0.27025	1.741000	0.38238	1.191000	0.43056	0.460000	0.39030	CAG	.		0.577	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		A	152944424	C	A	152944424	3	1	10	1	0	0	0	0	1	0	0	0	15151	711	25	3	60	3	SPRR4	1	152944424	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	262814	152944424	96306197	28	2354											
ADAM15	8751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155028275	155028275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatagtagaggcgggatGtggtaacagagaccaagact	14	7	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:155028275G>A	ENST00000356955.2	+	7	723	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ADAM15_ENST00000360674.4_Missense_Mutation_p.V208M|ADAM15_ENST00000368412.3_Missense_Mutation_p.V208M|ADAM15_ENST00000531455.1_Missense_Mutation_p.V218M|ADAM15_ENST00000355956.2_Missense_Mutation_p.V208M|ADAM15_ENST00000359280.4_Missense_Mutation_p.V208M|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.V192M|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.V208M|ADAM15_ENST00000271836.6_Missense_Mutation_p.V208M|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	208					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGGCGGGATGTGGTAACAGA	0.592																																					p.V218M		.											.	ADAM15-651	0			c.G652A						.						168	151	157					1																	155028275		2203	4300	6503	SO:0001583	missense	8751	exon7			CGGGATGTGGTAA	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.622G>A	1.37:g.155028275G>A	ENSP00000349436:p.Val208Met	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	473	183	NM_001261464	0	0	0	0	0	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871011	0.72065	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.01068	5.56;5.56;5.55;5.48;5.38;5.55;5.53;5.55	5.06	4.15	0.48705	.	0.000000	0.38111	N	0.001801	T	0.01387	0.0045	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D;D;D;D	0.79784	0.969;0.969;0.984;0.993;0.988;0.986;0.986;0.986;0.975;0.984	T	0.68405	-0.5417	10	0.72032	D	0.01	.	11.1676	0.48552	0.0897:0.0:0.9103:0.0	.	218;225;192;208;208;208;208;208;208;208	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	M	208;208;208;208;208;208;208;218	ENSP00000349436:V208M;ENSP00000403843:V208M;ENSP00000352226:V208M;ENSP00000353892:V208M;ENSP00000357397:V208M;ENSP00000348227:V208M;ENSP00000271836:V208M;ENSP00000432927:V218M	ENSP00000271836:V208M	V	+	1	0	ADAM15	153294899	0.683000	0.27633	0.715000	0.30552	0.980000	0.70556	3.394000	0.52551	1.350000	0.45770	0.462000	0.41574	GTG	.		0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		A	155028275	G	A	155028275	3	1	10	1	0	0	0	0	1	0	0	0	237	1377	48	3	648	3	ADAM15	1	155028275	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2083851	155028275	94222346	29	2355											
BCAN	63827	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	156628418	156628418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaggtggacactgtgcttCgctaccggtgccgggaagga	16	9	0	1	rs377573150		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:156628418C>T	ENST00000329117.5	+	13	2857	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	841	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.R841C(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)					CACTGTGCTTCGCTACCGGTG	0.652																																					p.R841C		.											.	BCAN-516	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C2521T						.						66	72	70					1																	156628418		2203	4300	6503	SO:0001583	missense	63827	exon13			GTGCTTCGCTACC	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.2521C>T	1.37:g.156628418C>T	ENSP00000331210:p.Arg841Cys	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	594	118	NM_021948	0	0	0	0	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612676	0.87258	.	.	ENSG00000132692	ENST00000329117	T	0.66815	-0.23	5.2	4.26	0.50523	Complement control module (2);Sushi/SCR/CCP (3);	0.209202	0.28236	N	0.016082	T	0.79429	0.4444	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.83054	-0.0151	10	0.87932	D	0	-14.2458	8.4594	0.32919	0.1758:0.6545:0.1697:0.0	.	841	Q96GW7	PGCB_HUMAN	C	841	ENSP00000331210:R841C	ENSP00000331210:R841C	R	+	1	0	BCAN	154895042	0.993000	0.37304	0.997000	0.53966	0.981000	0.71138	3.040000	0.49799	1.380000	0.46344	0.555000	0.69702	CGC	.		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		T	156628418	C	T	156628418	3	4	10	1	0	0	0	0	1	0	0	0	1346	884	31	1	2641	1	BCAN	1	156628418	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1600143	156628418	92622203	30	2356											
SPTA1	6708	hgsc.bcm.edu;bcgsc.ca	37	chr1	158627366	158627367	+	Frame_Shift_Ins	INS	-	-	T													gcaggtcagccaggtactgcINStggaactggacattggcttc							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:158627366_158627367insT	ENST00000368147.4	-	19	2885_2886	c.2705_2706insA	c.(2704-2706)cagfs	p.Q902fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	902					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)					CCAGGTACTGCTGGAACTGGAC	0.48																																					p.Q902fs		.											.	SPTA1-142	0			c.2706_2707insA						.																																			SO:0001589	frameshift_variant	6708	exon19			GTACTGCTGGAAC	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.2706dupA	1.37:g.158627367_158627367dupT	ENSP00000357129:p.Gln902fs	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	208	155	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Ins	INS	ENST00000368147.4	37	CCDS41423.1																																																																																			.		0.48	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158627367	-	T	158627366	7	5	10	1	0	1	1	0	0	0	0	0	15163	796	28	0	4689	0	SPTA1	1	158627366	Frame_Shift_Ins	INS	-	TCGA-OR-A5JB-01A-11D-A29I-10	1998948	158627366	90623255	31	2357											
ATP1A4	480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160141399	160141399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcttgaatctgcctaGcagcttctccaagggattcc	8	13	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:160141399G>T	ENST00000368081.4	+	12	2177	c.1706G>T	c.(1705-1707)aGc>aTc	p.S569I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	569					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATCTGCCTAGCAGCTTCTCC	0.473																																					p.S569I		.											.	ATP1A4-94	0			c.G1706T						.						142	157	152					1																	160141399		2203	4300	6503	SO:0001583	missense	480	exon12			TGCCTAGCAGCTT	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1706G>T	1.37:g.160141399G>T	ENSP00000357060:p.Ser569Ile	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	30	25	NM_144699	0	0	0	0	0	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422229	0.25639	.	.	ENSG00000132681	ENST00000368081	T	0.76578	-1.03	4.19	-0.767	0.11016	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.958426	0.08779	N	0.894955	T	0.50497	0.1619	L	0.35414	1.06	0.22305	N	0.99922	B	0.28055	0.199	B	0.36335	0.222	T	0.55321	-0.8159	10	0.87932	D	0	.	5.4119	0.16352	0.2141:0.1871:0.5989:0.0	.	569	Q13733	AT1A4_HUMAN	I	569	ENSP00000357060:S569I	ENSP00000357060:S569I	S	+	2	0	ATP1A4	158408023	0.779000	0.28652	0.058000	0.19502	0.789000	0.44602	1.792000	0.38754	-0.104000	0.12154	0.655000	0.94253	AGC	.		0.473	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160141399	G	T	160141399	3	4	10	1	0	0	0	0	1	0	0	0	1132	971	34	3	1752	3	ATP1A4	1	160141399	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1514033	160141399	89109222	32	2358											
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	176852120	176852120	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatgtcgtccacaaagctCagcactgtttctgcccagag	9	12	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:176852120C>T	ENST00000367654.3	-	20	3472	c.3261G>A	c.(3259-3261)ctG>ctA	p.L1087L	ASTN1_ENST00000424564.2_Silent_p.L1079L|ASTN1_ENST00000361833.2_Silent_p.L1079L|ASTN1_ENST00000367657.3_Silent_p.L1079L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1087	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCACAAAGCTCAGCACTGTTT	0.478																																					p.L1079L		.											.	ASTN1-319	0			c.G3237A						.						128	117	121					1																	176852120		2203	4300	6503	SO:0001819	synonymous_variant	460	exon20			AAAGCTCAGCACT	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3261G>A	1.37:g.176852120C>T		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	218	82	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																				.		0.478	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176852120	C	T	176852120	2	4	10	1	0	0	0	0	0	0	0	1	1065	813	29	3		3	ASTN1	1	176852120	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	16710721	176852120	72398501	33	2359											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	10	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	2199180	179051300	70199321	34	2360											
ACBD6	84320	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	180471345	180471345	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccggagtcgtcccctgagctCagctctccaccgctgtcgcc	10	19	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:180471345C>G	ENST00000367595.3	-	1	744	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	19						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CCCCTGAGCTCAGCTCTCCAC	0.652																																					p.L19L		.											.	ACBD6-91	0			c.G57C						.						36	38	38					1																	180471345		2203	4300	6503	SO:0001819	synonymous_variant	84320	exon1			TGAGCTCAGCTCT	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"Ankyrin repeat domain containing"	23339	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 6"			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.57G>C	1.37:g.180471345C>G		Somatic	240	2		WXS	Illumina GAIIx	Phase_I	313	122	NM_032360	0	0	19	39	20		Silent	SNP	ENST00000367595.3	37	CCDS1339.1																																																																																			.		0.652	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		G	180471345	C	G	180471345	2	3	10	1	0	0	0	0	0	0	0	1	126	813	29	3		3	ACBD6	1	180471345	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1420045	180471345	68779276	35	2361											
RNF2	6045	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	185069018	185069018	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttcgaagcaaaggtgaatCaaaccagatgaaccttgata	8	8	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:185069018C>G	ENST00000367510.3	+	6	1121	c.833C>G	c.(832-834)tCa>tGa	p.S278*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.S206*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	278					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)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AAAGGTGAATCAAACCAGATG	0.398																																					p.S278X		.											.	RNF2-658	0			c.C833G						.						102	102	102					1																	185069018		2203	4300	6503	SO:0001587	stop_gained	6045	exon6			GTGAATCAAACCA	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.833C>G	1.37:g.185069018C>G	ENSP00000356480:p.Ser278*	Somatic	254	2		WXS	Illumina GAIIx	Phase_I	334	121	NM_007212	0	0	13	15	2	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000367510.3	37	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905381	0.92107	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	.	.	.	5.83	5.83	0.93111	.	0.175723	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.1957	14.9592	0.71144	0.1427:0.8573:0.0:0.0	.	.	.	.	X	278;206	.	ENSP00000356479:S206X	S	+	2	0	RNF2	183335641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.465000	0.66725	2.771000	0.95319	0.650000	0.86243	TCA	.		0.398	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		G	185069018	C	G	185069018	4	3	10	1	0	0	0	0	0	1	0	0	13517	838	29	3	851	3	RNF2	1	185069018	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4597673	185069018	64181603	36	2362											
RNPEP	6051	hgsc.bcm.edu	37	chr1	201951890	201951890	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggcctccaacttccgGgcctttgagctgctgcactt	10	16	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:201951890G>T	ENST00000295640.4	+	1	139	c.96G>T	c.(94-96)cgG>cgT	p.R32R	RNPEP_ENST00000367286.3_Silent_p.R32R	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	32					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)		CCAACTTCCGGGCCTTTGAGC	0.761																																					p.R32R	GBM(19;39 479 7473 13131 19462)	.											.	RNPEP-91	0			c.G96T						.						1	2	2					1																	201951890		1158	2356	3514	SO:0001819	synonymous_variant	6051	exon1			CTTCCGGGCCTTT	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.96G>T	1.37:g.201951890G>T		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	50	4	NM_020216	0	0	1	1	0	Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	CCDS1418.1																																																																																			.		0.761	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		T	201951890	G	T	201951890	2	4	10	1	0	0	0	0	0	0	0	1	13554	1219	43	3		3	RNPEP	1	201951890	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	16882872	201951890	47298731	37	2363											
GPATCH2	55105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	217793701	217793701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttctccctctccttttcCttgcctggcgtttcagaggg	9	13	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:217793701C>A	ENST00000366935.3	-	2	307	c.197G>T	c.(196-198)aGg>aTg	p.R66M	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R66M	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	66					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)		TCTCCTTTTCCTTGCCTGGCG	0.488																																					p.R66M		.											.	GPATCH2-91	0			c.G197T						.						138	123	128					1																	217793701		2203	4300	6503	SO:0001583	missense	55105	exon2			CTTTTCCTTGCCT	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.197G>T	1.37:g.217793701C>A	ENSP00000355902:p.Arg66Met	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	85	60	NM_018040	0	0	0	2	2	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823892	0.90873	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.62364	0.53;0.03	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79344	-0.1842	10	0.59425	D	0.04	-23.032	19.8124	0.96553	0.0:1.0:0.0:0.0	.	66;66	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	M	66	ENSP00000355902:R66M;ENSP00000355901:R66M	ENSP00000355901:R66M	R	-	2	0	GPATCH2	215860324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.440000	0.80464	2.671000	0.90904	0.591000	0.81541	AGG	.		0.488	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		A	217793701	C	A	217793701	3	1	10	1	0	0	0	0	1	0	0	0	6617	681	24	3	1425	3	GPATCH2	1	217793701	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	15841811	217793701	31456920	38	2364											
MARK1	4139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	220835222	220835222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctaagccgcgttctttgcGgttcacatggagtatgaaga	11	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:220835222G>T	ENST00000366917.4	+	18	2368	c.2102G>T	c.(2101-2103)cGg>cTg	p.R701L	MARK1_ENST00000366918.4_Missense_Mutation_p.R664L|RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000402574.1_Missense_Mutation_p.R551L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGTTCTTTGCGGTTCACATGG	0.413																																					p.R701L		.											.	MARK1-802	0			c.G2102T						.						63	62	62					1																	220835222		2203	4300	6503	SO:0001583	missense	4139	exon18			CTTTGCGGTTCAC	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2102G>T	1.37:g.220835222G>T	ENSP00000355884:p.Arg701Leu	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	191	147	NM_018650	0	0	0	9	9		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	36	5.700717	0.96802	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.53857	0.6;0.6;0.6	5.92	5.92	0.95590	Kinase-associated KA1 (2);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.987;1.0	D;D;P;D	0.97110	1.0;0.99;0.744;0.998	T	0.81695	-0.0816	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	686;551;701;664	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	551;664;701	ENSP00000386017:R551L;ENSP00000355885:R664L;ENSP00000355884:R701L	ENSP00000355884:R701L	R	+	2	0	MARK1	218901845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	CGG	.		0.413	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			T	220835222	G	T	220835222	3	4	10	1	0	0	0	0	1	0	0	0	9350	1116	39	2	2172	2	MARK1	1	220835222	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3041521	220835222	28415399	39	2365											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228471220	228471220	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagaaaaagcaaactgcttCacagaggagctgaccaatct	8	11	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:228471220C>T	ENST00000422127.1	+	33	8798	c.8754C>T	c.(8752-8754)ttC>ttT	p.F2918F	OBSCN_ENST00000359599.6_Silent_p.F1765F|OBSCN_ENST00000284548.11_Silent_p.F2918F|OBSCN_ENST00000366709.4_Silent_p.F37F|OBSCN_ENST00000570156.2_Silent_p.F3347F|OBSCN_ENST00000366707.4_Silent_p.F37F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2918					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)				CAAACTGCTTCACAGAGGAGC	0.632																																					p.F3347F		.											.	OBSCN-403	0			c.C10041T						.						38	41	40					1																	228471220		2083	4205	6288	SO:0001819	synonymous_variant	84033	exon38			CTGCTTCACAGAG	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.8754C>T	1.37:g.228471220C>T		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	318	102	NM_001271223	0	0	0	0	0	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																																																																																			.		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228471220	C	T	228471220	2	4	10	1	0	0	0	0	0	0	0	1	10851	825	29	3		3	OBSCN	1	228471220	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7635998	228471220	20779401	40	2366											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	10	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	33450	228504670	20745951	41	2367											
KIF26B	55083	bcgsc.ca	37	chr1	245582995	245582995	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcgcagggctcctgcGtggccagcgagacttccaca	12	16	0	1	rs377008899		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:245582995G>C	ENST00000407071.2	+	4	1554	c.1114G>C	c.(1114-1116)Gtg>Ctg	p.V372L		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	372					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGCTCCTGCGTGGCCAGCGA	0.597																																					p.V372L		.											.	KIF26B-25	0			c.G1114C						.						85	88	87					1																	245582995		1995	4164	6159	SO:0001583	missense	55083	exon4			TCCTGCGTGGCCA	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1114G>C	1.37:g.245582995G>C	ENSP00000385545:p.Val372Leu	Somatic	225	4		WXS	Illumina GAIIx	Phase_I	361	272	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276626	0.23307	.	.	ENSG00000162849	ENST00000407071	T	0.77489	-1.1	5.35	2.46	0.29980	.	.	.	.	.	T	0.66963	0.2843	L	0.36672	1.1	0.21499	N	0.999665	B	0.09022	0.002	B	0.08055	0.003	T	0.56402	-0.7985	9	0.52906	T	0.07	.	8.1591	0.31187	0.1365:0.0:0.7346:0.1288	.	372	Q2KJY2	KI26B_HUMAN	L	372	ENSP00000385545:V372L	ENSP00000385545:V372L	V	+	1	0	KIF26B	243649618	0.888000	0.30383	0.291000	0.24904	0.786000	0.44442	3.478000	0.53158	0.238000	0.21222	-0.165000	0.13383	GTG	.		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		C	245582995	G	C	245582995	3	2	10	1	0	0	0	0	1	0	0	0	8322	1145	40	2	1128	2	KIF26B	1	245582995	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	17078325	245582995	3667626	42	2368											
OR2W5	441932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	247654468	247654468	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttacctacaggcattcatCctggtgggctcttctgatcg	10	11	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:247654468C>T	ENST00000522351.1	+	0	99							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGCATTCATCCTGGTGGGCT	0.473																																					p.I13I		.											.	OR2W5-115	0			c.C39T						.						158	147	151					1																	247654468		2203	4300	6503			441932	exon1			ATTCATCCTGGTG			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654468C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	143	106	NM_001004698	0	0	0	0	0	B9EH85	Silent	SNP	ENST00000522351.1	37																																																																																				.		0.473	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		T	247654468	C	T	247654468	1	4	10	0	1	0	0	0	0	0	0	0	11073	845	30	3		3	OR2W5	1	247654468	RNA	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2071473	247654468	1596153	43	2369											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	10	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		1481231	241718142	44	2370											
PXDN	7837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	1652055	1652055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtggtagggtgggatcCcgtggtcccggccccgctgg	18	12	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:1652055C>A	ENST00000252804.4	-	17	3547	c.3497G>T	c.(3496-3498)gGg>gTg	p.G1166V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1166					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)		GGGTGGGATCCCGTGGTCCCG	0.597																																					p.G1166V		.											.	PXDN-166	0			c.G3497T						.						86	96	93					2																	1652055		2019	4207	6226	SO:0001583	missense	7837	exon17			GGGATCCCGTGGT	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.3497G>T	2.37:g.1652055C>A	ENSP00000252804:p.Gly1166Val	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	192	91	NM_012293	0	0	0	1	1	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453001	0.84209	.	.	ENSG00000130508	ENST00000252804	T	0.78924	-1.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94672	0.7857	10	0.87932	D	0	-47.3214	19.6424	0.95763	0.0:1.0:0.0:0.0	.	1166	Q92626	PXDN_HUMAN	V	1166	ENSP00000252804:G1166V	ENSP00000252804:G1166V	G	-	2	0	PXDN	1631062	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.734000	0.84928	2.645000	0.89757	0.650000	0.86243	GGG	.		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1652055	C	A	1652055	3	1	10	1	0	0	0	0	1	0	0	0	12892	623	22	3	970	3	PXDN	2	1652055	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	170824	1652055	241547318	45	2371											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	21231248	21231248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgttctcaggtacttgctgGagaacttcactgactccttc	8	13	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:21231248G>T	ENST00000233242.1	-	26	8619	c.8492C>A	c.(8491-8493)tCc>tAc	p.S2831Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2831					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)					GTACTTGCTGGAGAACTTCAC	0.403																																					p.S2831Y		.											.	APOB-175	0			c.C8492A						.						118	123	122					2																	21231248		2203	4300	6503	SO:0001583	missense	338	exon26			TTGCTGGAGAACT	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.8492C>A	2.37:g.21231248G>T	ENSP00000233242:p.Ser2831Tyr	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	66	29	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399636	0.42512	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00864	5.6	5.36	5.36	0.76844	.	0.000000	0.46758	D	0.000264	T	0.05410	0.0143	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.06789	-1.0807	10	0.87932	D	0	.	15.3597	0.74460	0.0:0.14:0.86:0.0	.	2831	P04114	APOB_HUMAN	Y	2831	ENSP00000233242:S2831Y	ENSP00000233242:S2831Y	S	-	2	0	APOB	21084753	0.992000	0.36948	1.000000	0.80357	0.855000	0.48748	1.514000	0.35834	2.513000	0.84729	0.555000	0.69702	TCC	.		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21231248	G	T	21231248	3	4	10	1	0	0	0	0	1	0	0	0	785	1174	41	3	5215	3	APOB	2	21231248	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	19579193	21231248	221968125	46	2372											
FAM98A	25940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	33811716	33811716	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggacttcatattcattggcTatggcttggttaattgcttc	9	8	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:33811716T>A	ENST00000238823.8	-	6	773	c.633A>T	c.(631-633)atA>atT	p.I211I	FAM98A_ENST00000403368.1_Silent_p.I211I|FAM98A_ENST00000441530.2_Silent_p.I16I|FAM98A_ENST00000498340.1_5'Flank			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	212							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ATTCATTGGCTATGGCTTGGT	0.373																																					p.I211I		.											.	FAM98A-91	0			c.A633T						.						114	111	112					2																	33811716		2203	4300	6503	SO:0001819	synonymous_variant	25940	exon6			ATTGGCTATGGCT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.633A>T	2.37:g.33811716T>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	44	17	NM_015475	0	0	4	5	1	B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	CCDS33179.1																																																																																			.		0.373	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		A	33811716	T	A	33811716	2	1	10	1	0	0	0	0	0	0	0	1	5678	1512	53	5		5	FAM98A	2	33811716	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	12580468	33811716	209387657	47	2373											
MSH2	4436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	47641427	47641427	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttgcagtttcatcactgtCtgcggtaatcaagtttttag	10	7	4	0	rs139891783		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:47641427C>T	ENST00000233146.2	+	5	1035	c.812C>T	c.(811-813)tCt>tTt	p.S271F	MSH2_ENST00000406134.1_Missense_Mutation_p.S271F|MSH2_ENST00000543555.1_Missense_Mutation_p.S205F	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	271			Missing (in HNPCC1). {ECO:0000269|PubMed:9718327}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATCACTGTCTGCGGTAATC	0.313			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.S271F		.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2-2445	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.C812T	GRCh37	CD045346	MSH2	D	rs139891783	.						67	66	66					2																	47641427		2203	4300	6503	SO:0001583	missense	4436	exon5	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	CACTGTCTGCGGT	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.812C>T	2.37:g.47641427C>T	ENSP00000233146:p.Ser271Phe	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	45	22	NM_000251	0	0	4	12	8	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666492	0.67814	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D	0.89415	-2.51;-2.51;-2.51	5.24	3.45	0.39498	DNA mismatch repair protein MutS, connector (1);	0.198355	0.43110	N	0.000608	D	0.93220	0.7840	M	0.82193	2.58	0.36506	D	0.86931	D;D;D	0.62365	0.99;0.991;0.961	P;P;P	0.62560	0.904;0.837;0.878	D	0.94459	0.7674	10	0.87932	D	0	-4.1152	11.1408	0.48402	0.0:0.8023:0.1279:0.0698	.	271;271;271	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	F	271;205;271;271;271;271;271;271	ENSP00000233146:S271F;ENSP00000442697:S205F;ENSP00000384199:S271F	ENSP00000233146:S271F	S	+	2	0	MSH2	47494931	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.617000	0.61204	0.619000	0.30197	-0.189000	0.12847	TCT	.		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			T	47641427	C	T	47641427	3	4	10	1	0	0	0	0	1	0	0	0	9908	913	32	3	830	3	MSH2	2	47641427	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13829711	47641427	195557946	48	2374											
SPTBN1	6711	broad.mit.edu;mdanderson.org	37	chr2	54858733	54858733	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacacgaagcaagccgaagcCtttcttaacaaccaggtaag	9	11	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:54858733C>G	ENST00000356805.4	+	16	3830	c.3549C>G	c.(3547-3549)gcC>gcG	p.A1183A	SPTBN1_ENST00000333896.5_Silent_p.A1170A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1183					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)			AAGCCGAAGCCTTTCTTAACA	0.502																																					p.A1183A		.											.	SPTBN1-140	0			c.C3549G						.						74	79	77					2																	54858733		2203	4300	6503	SO:0001819	synonymous_variant	6711	exon16			CGAAGCCTTTCTT		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.3549C>G	2.37:g.54858733C>G		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	61	21	NM_003128	0	0	0	0	0	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			.		0.502	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			G	54858733	C	G	54858733	2	3	10	1	0	0	0	0	0	0	0	1	15166	668	24	3		3	SPTBN1	2	54858733	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7217306	54858733	188340640	49	2375											
UGP2	7360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	64111157	64111157	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaactcttttaacacggatGaagataccaaaaaaatacta	5	7	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:64111157G>A	ENST00000337130.5	+	5	981	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ACA59_ENST00000515966.1_RNA|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.E178K|UGP2_ENST00000394417.2_Missense_Mutation_p.E158K|UGP2_ENST00000467648.2_Missense_Mutation_p.E158K	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	169					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TAACACGGATGAAGATACCAA	0.328																																					p.E169K		.											.	UGP2-90	0			c.G505A						.						107	105	106					2																	64111157		2203	4300	6503	SO:0001583	missense	7360	exon5			ACGGATGAAGATA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.505G>A	2.37:g.64111157G>A	ENSP00000338703:p.Glu169Lys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	47	18	NM_006759	0	0	19	34	15	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996860	0.74818	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.18;2.14;2.18;2.14	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.58510	1.815	0.80722	D	1	B;B	0.27068	0.167;0.007	B;B	0.30572	0.117;0.031	T	0.02339	-1.1174	10	0.33141	T	0.24	-55.2098	19.88	0.96892	0.0:0.0:1.0:0.0	.	178;169	E7EUC7;Q16851	.;UGPA_HUMAN	K	158;158;169;161;178;158;158	ENSP00000377939:E158K;ENSP00000420793:E158K;ENSP00000338703:E169K;ENSP00000420131:E161K;ENSP00000411803:E178K;ENSP00000419335:E158K;ENSP00000420342:E158K	ENSP00000338703:E169K	E	+	1	0	UGP2	63964661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.703000	0.92315	0.655000	0.94253	GAA	.		0.328	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		A	64111157	G	A	64111157	3	1	10	1	0	0	0	0	1	0	0	0	16992	1291	45	3	523	3	UGP2	2	64111157	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9252424	64111157	179088216	50	2376											
CLEC4F	165530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	71039579	71039579	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatgctcgcagctctgacCtgctcctccttggaggccac	9	18	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:71039579C>A	ENST00000272367.2	-	5	1615	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	CLEC4F_ENST00000426626.1_Splice_Site_p.Q513H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	513	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCTCTGACCTGCTCCTCCT	0.522																																					p.Q513H	Colon(107;10 2157 6841 26035)	.											.	CLEC4F-95	0			c.G1539T						.						70	67	68					2																	71039579		2203	4300	6503	SO:0001630	splice_region_variant	165530	exon5			TCTGACCTGCTCC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1539+1G>T	2.37:g.71039579C>A		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	162	55	NM_173535	0	0	0	0	0	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	c	13.89	2.373238	0.42105	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.18960	2.18;2.18	4.4	4.4	0.53042	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.735158	0.11194	N	0.589549	T	0.36744	0.0978	L	0.45422	1.42	0.25550	N	0.9871	D;P	0.63046	0.992;0.698	D;B	0.64877	0.93;0.396	T	0.11817	-1.0572	9	.	.	.	.	13.2928	0.60280	0.0:1.0:0.0:0.0	.	513;513	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	H	513	ENSP00000272367:Q513H;ENSP00000390581:Q513H	.	Q	-	3	2	CLEC4F	70893087	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	3.938000	0.56583	2.410000	0.81850	0.291000	0.19559	CAG	.		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	Missense_Mutation	A	71039579	C	A	71039579	5	1	10	1	0	0	0	0	0	0	1	0	3523	695	24	3	242	3	CLEC4F	2	71039579	Splice_Site	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	6928422	71039579	172159794	51	2377											
TBC1D8	11138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	101656658	101656658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctctctgagtggcaggatGatcttacagcagccatcttc	9	12	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:101656658G>A	ENST00000376840.4	-	6	1016	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	TBC1D8_ENST00000409318.1_Silent_p.I354I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	339	GRAM 2.				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						GTGGCAGGATGATCTTACAGC	0.557																																					p.I339I		.											.	TBC1D8-25	0			c.C1017T						.						72	76	74					2																	101656658		2024	4179	6203	SO:0001819	synonymous_variant	11138	exon6			CAGGATGATCTTA	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.1017C>T	2.37:g.101656658G>A		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	220	68	NM_001102426	0	0	0	2	2	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	CCDS46375.1																																																																																			.		0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		A	101656658	G	A	101656658	2	1	10	1	0	0	0	0	0	0	0	1	15672	1280	45	3		3	TBC1D8	2	101656658	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	30617079	101656658	141542715	52	2378											
IL18R1	8809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	102998142	102998142	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgttgcagtggaattaGgtatatttcaatatacatat	7	5	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:102998142G>A	ENST00000409599.1	+	7	1044	c.688G>A	c.(688-690)Gga>Aga	p.G230R	IL18R1_ENST00000233957.1_Splice_Site_p.G230R			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	230	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGGAATTAGGTATATTTCA	0.338																																					p.G230R		.											.	IL18R1-93	0			c.G688A						.						98	92	94					2																	102998142		2203	4300	6503	SO:0001630	splice_region_variant	8809	exon5			GAATTAGGTATAT	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.688+1G>A	2.37:g.102998142G>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	77	28	NM_003855	0	0	0	0	0	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471380	0.63737	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.28069	1.63;1.63;1.63	5.03	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.56499	0.1989	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61138	-0.7123	10	0.87932	D	0	.	14.214	0.65781	0.0:0.0:1.0:0.0	.	230;230	B7ZKV7;Q13478	.;IL18R_HUMAN	R	230	ENSP00000386663:G230R;ENSP00000387211:G230R;ENSP00000233957:G230R	ENSP00000233957:G230R	G	+	1	0	IL18R1	102364574	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	4.358000	0.59442	2.493000	0.84123	0.650000	0.86243	GGA	.		0.338	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	Missense_Mutation	A	102998142	G	A	102998142	5	1	10	1	0	0	0	0	0	0	1	0	7674	1014	35	3	706	3	IL18R1	2	102998142	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1341484	102998142	140201231	53	2379											
SULT1C3	442038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	108872131	108872131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacttagaggaattttAtgagaaattcatgtccggaa	9	5	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:108872131A>T	ENST00000329106.2	+	4	503	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.Y168F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	168					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGGAATTTTATGAGAAATTC	0.433																																					p.Y168F		.											.	SULT1C3-91	0			c.A503T						.						74	72	73					2																	108872131		2203	4300	6503	SO:0001583	missense	442038	exon4			AATTTTATGAGAA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.503A>T	2.37:g.108872131A>T	ENSP00000333310:p.Tyr168Phe	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	99	18	NM_001008743	0	0	0	0	0	Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	2.979	-0.210720	0.06140	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.80480	-1.38;-1.38	3.58	-7.17	0.01511	Sulfotransferase domain (1);	3.177980	0.01133	N	0.006025	T	0.37812	0.1017	N	0.00024	-2.7	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.57556	-0.7791	10	0.21014	T	0.42	.	9.9485	0.41626	0.0739:0.0741:0.093:0.759	.	168	Q6IMI6	ST1C3_HUMAN	F	168	ENSP00000333310:Y168F;ENSP00000365890:Y168F	ENSP00000333310:Y168F	Y	+	2	0	SULT1C3	108238563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.791000	0.26915	-2.830000	0.00339	-1.238000	0.01547	TAT	.		0.433	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		T	108872131	A	T	108872131	3	4	10	1	0	0	0	0	1	0	0	0	15425	449	16	5	517	5	SULT1C3	2	108872131	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	5873989	108872131	134327242	54	2380											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	10	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	1500061	110372192	132827181	55	2381											
IL1RN	3557	ucsc.edu;bcgsc.ca	37	chr2	113887216	113887216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactagttgctggatacttGcaaggaccaaatgtcaattt	8	8	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:113887216G>T	ENST00000409930.3	+	2	244	c.180G>T	c.(178-180)ttG>ttT	p.L60F	IL1RN_ENST00000409052.1_Missense_Mutation_p.L26F|IL1RN_ENST00000361779.3_Missense_Mutation_p.L26F|IL1RN_ENST00000354115.2_Missense_Mutation_p.L42F|IL1RN_ENST00000259206.5_Missense_Mutation_p.L63F	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	60					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	CTGGATACTTGCAAGGACCAA	0.478									Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.L63F		.											.	IL1RN-92	0			c.G189T						.						154	140	145					2																	113887216		2203	4300	6503	SO:0001583	missense	3557	exon4	Familial Cancer Database	Lichen Sclerosis, Familial	ATACTTGCAAGGA	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.180G>T	2.37:g.113887216G>T	ENSP00000387173:p.Leu60Phe	Somatic	268	4		WXS	Illumina GAIIx	Phase_I	402	134	NM_173841	0	0	1	1	0	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494735	0.44352	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.33	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.89601	3.045	0.34211	D	0.674246	D;B;P	0.56968	0.978;0.078;0.912	D;B;D	0.64877	0.918;0.108;0.93	T	0.48896	-0.8994	10	0.59425	D	0.04	-15.8092	6.763	0.23550	0.3929:0.0:0.6071:0.0	.	60;42;63	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	F	26;26;63;42;60	ENSP00000387210:L26F;ENSP00000354816:L26F;ENSP00000259206:L63F;ENSP00000329072:L42F;ENSP00000387173:L60F	ENSP00000259206:L63F	L	+	3	2	IL1RN	113603687	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	0.440000	0.21592	0.315000	0.23110	-0.192000	0.12808	TTG	.		0.478	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		T	113887216	G	T	113887216	3	4	10	1	0	0	0	0	1	0	0	0	7692	1310	46	3	267	3	IL1RN	2	113887216	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3515024	113887216	129312157	56	2382											
MARCO	8685	hgsc.bcm.edu;bcgsc.ca	37	chr2	119731955	119731955	+	Frame_Shift_Del	DEL	C	C	-													ggcatgcctggtgcccctggCccgccgggaccacctgctga							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:119731955delC	ENST00000327097.4	+	5	642	c.507delC	c.(505-507)ggcfs	p.G169fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.G91fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	169	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						GTGCCCCTGGCCCGCCGGGAC	0.562																																					p.G169fs	GBM(8;18 374 7467 11269 32796)	.											.	MARCO-95	0			c.507delC						.						65	67	66					2																	119731955		2200	4298	6498	SO:0001589	frameshift_variant	8685	exon5			CCCTGGCCCGCCG	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.507delC	2.37:g.119731955delC	ENSP00000318916:p.Gly169fs	Somatic	76	1		WXS	Illumina GAIIx	Phase_I	71	27	NM_006770	0	0	0	0	0	B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																			.		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		-	119731955	C	-	119731955	7	5	10	1	0	1	0	1	0	0	0	0	9349	726	26	0	525	0	MARCO	2	119731955	Frame_Shift_Del	DEL	C	TCGA-OR-A5JB-01A-11D-A29I-10	5844739	119731955	123467418	57	2383											
C1QL2	165257	hgsc.bcm.edu;broad.mit.edu	37	chr2	119915573	119915573	+	Frame_Shift_Del	DEL	C	C	-													gggcccggctctccagggggCccccgcggccctggcttgcc							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:119915573delC	ENST00000272520.3	-	1	892	c.273delG	c.(271-273)gggfs	p.G91fs		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	91	Collagen-like.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CTCCAGGGGGCCCCCGCGGCC	0.751										HNSCC(49;0.14)																											p.G91fs		.											.	C1QL2-91	0			c.273delG						.						2	2	2					2																	119915573		926	2235	3161	SO:0001589	frameshift_variant	165257	exon1			AGGGGGCCCCCGC	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.273delG	2.37:g.119915573delC	ENSP00000272520:p.Gly91fs	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	22	11	NM_182528	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000272520.3	37	CCDS42737.1																																																																																			.		0.751	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		-	119915573	C	-	119915573	7	5	10	1	0	1	0	1	0	0	0	0	1966	726	26	0	598	0	C1QL2	2	119915573	Frame_Shift_Del	DEL	C	TCGA-OR-A5JB-01A-11D-A29I-10	183618	119915573	123283800	58	2384											
CNTNAP5	129684	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	125262066	125262066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaaccctgctgctgagCctggagggtggaatcctgag	16	10	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125262066C>A	ENST00000431078.1	+	8	1621	c.1257C>A	c.(1255-1257)agC>agA	p.S419R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTGCTGAGCCTGGAGGGTG	0.517																																					p.S419R		.											.	CNTNAP5-524	0			c.C1257A						.						70	73	72					2																	125262066		1968	4156	6124	SO:0001583	missense	129684	exon8			GCTGAGCCTGGAG	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.1257C>A	2.37:g.125262066C>A	ENSP00000399013:p.Ser419Arg	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	172	71	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146668	0.21288	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.64	1.79	0.24919	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.674319	0.13582	N	0.377262	T	0.48059	0.1479	N	0.04297	-0.235	0.22185	N	0.999301	B	0.33318	0.408	B	0.32149	0.141	T	0.36625	-0.9740	10	0.14252	T	0.57	.	2.7289	0.05221	0.1265:0.5417:0.1228:0.209	.	419	Q8WYK1	CNTP5_HUMAN	R	419	ENSP00000399013:S419R	ENSP00000399013:S419R	S	+	3	2	CNTNAP5	124978536	0.902000	0.30710	0.999000	0.59377	0.937000	0.57800	-0.170000	0.09897	0.313000	0.23062	-0.142000	0.14014	AGC	.		0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125262066	C	A	125262066	3	1	10	1	0	0	0	0	1	0	0	0	3657	738	26	3	1287	3	CNTNAP5	2	125262066	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5346493	125262066	117937307	59	2385											
CNTNAP5	129684	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125547619	125547619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggccactgcagcagctacGgcagcatctgccacaacggg	12	16	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125547619G>T	ENST00000431078.1	+	18	3254	c.2890G>T	c.(2890-2892)Ggc>Tgc	p.G964C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	964	EGF-like 2. {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)		CAGCAGCTACGGCAGCATCTG	0.542																																					p.G964C		.											.	CNTNAP5-524	0			c.G2890T						.						44	53	50					2																	125547619		2109	4236	6345	SO:0001583	missense	129684	exon18			AGCTACGGCAGCA	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.2890G>T	2.37:g.125547619G>T	ENSP00000399013:p.Gly964Cys	Somatic	204	1		WXS	Illumina GAIIx	Phase_I	304	100	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061409	0.36373	.	.	ENSG00000155052	ENST00000431078	T	0.76709	-1.04	5.24	2.38	0.29361	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.118803	0.37136	N	0.002238	D	0.88672	0.6500	M	0.92459	3.31	0.30390	N	0.781125	D	0.89917	1.0	D	0.72625	0.978	D	0.85583	0.1241	10	0.72032	D	0.01	.	9.6822	0.40076	0.2305:0.0:0.7695:0.0	.	964	Q8WYK1	CNTP5_HUMAN	C	964	ENSP00000399013:G964C	ENSP00000399013:G964C	G	+	1	0	CNTNAP5	125264089	1.000000	0.71417	0.271000	0.24616	0.259000	0.26198	3.619000	0.54196	0.692000	0.31613	0.655000	0.94253	GGC	.		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125547619	G	T	125547619	3	4	10	1	0	0	0	0	1	0	0	0	3657	1116	39	2	2960	2	CNTNAP5	2	125547619	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	285553	125547619	117651754	60	2386											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125660460	125660460	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attatcttttacattgcagaGaatcttggtttggattctga	8	5	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125660460G>A	ENST00000431078.1	+	22	3799	c.3435G>A	c.(3433-3435)gaG>gaA	p.E1145E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1145	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.E1145D(1)|p.E1145E(1)		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)		ACATTGCAGAGAATCTTGGTT	0.373																																					p.E1145E		.											.	CNTNAP5-524	2	Substitution - Missense(1)|Substitution - coding silent(1)	prostate(1)|endometrium(1)	c.G3435A						.						54	54	54					2																	125660460		1908	4140	6048	SO:0001630	splice_region_variant	129684	exon22			TGCAGAGAATCTT	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.3434-1G>A	2.37:g.125660460G>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	85	32	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Silent	A	125660460	G	A	125660460	5	1	10	1	0	0	0	0	0	0	1	0	3657	956	33	3	3521	3	CNTNAP5	2	125660460	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	112841	125660460	117538913	61	2387											
POTEF	728378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacttgcccatcttGttcctgagtgtcttcatagc	7	14	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:130877801G>T	ENST00000409914.2	-	3	687	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEF_ENST00000360967.5_Missense_Mutation_p.N96K|POTEF_ENST00000361163.4_Missense_Mutation_p.N96K|POTEF_ENST00000357462.5_Missense_Mutation_p.N96K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612																																					p.N96K		.											.	POTEF-27	2	Substitution - coding silent(2)	lung(2)	c.C288A						.						104	128	120					2																	130877801		2203	4296	6499	SO:0001583	missense	728378	exon3			CATCTTGTTCCTG	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.288C>A	2.37:g.130877801G>T	ENSP00000386786:p.Asn96Lys	Somatic	343	1		WXS	Illumina GAIIx	Phase_I	536	67	NM_001099771	0	0	0	0	0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	5.116	0.206951	0.09704	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76578	-1.03;-1.03;1.8;1.8	0.562	-1.12	0.09808	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	K	96	ENSP00000350052:N96K;ENSP00000386786:N96K;ENSP00000354232:N96K;ENSP00000355012:N96K	ENSP00000350052:N96K	N	-	3	2	POTEF	130594271	0.003000	0.15002	0.085000	0.20634	0.092000	0.18411	-0.155000	0.10115	-0.407000	0.07576	0.074000	0.15403	AAC	.		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130877801	G	T	130877801	3	4	10	1	0	0	0	0	1	0	0	0	12304	1368	48	3	2999	3	POTEF	2	130877801	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5217341	130877801	112321572	62	2388											
IMP4	92856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	131103419	131103419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctgtgcaatgtggtcatGcggcatgacatcccagacct	11	12	1	2	rs200939050		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:131103419G>T	ENST00000259239.3	+	6	1215	c.507G>T	c.(505-507)atG>atT	p.M169I	IMP4_ENST00000409935.1_Missense_Mutation_p.M169I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	169	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.M169I(1)		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)					ATGTGGTCATGCGGCATGACA	0.637																																					p.M169I		.											.	IMP4-90	1	Substitution - Missense(1)	endometrium(1)	c.G507T						.						96	87	90					2																	131103419		2203	4300	6503	SO:0001583	missense	92856	exon6			GGTCATGCGGCAT	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.507G>T	2.37:g.131103419G>T	ENSP00000259239:p.Met169Ile	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	134	55	NM_033416	0	0	50	89	39	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.156451|5.156451	0.94686|0.94686	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	.|T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Brix domain (3);Anticodon-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41858|0.41858	0.1177|0.1177	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	.|B	.|0.27997	.|0.197	.|B	.|0.40982	.|0.345	T|T	0.41945|0.41945	-0.9480|-0.9480	5|10	.|0.72032	.|D	.|0.01	-53.3595|-53.3595	17.1402|17.1402	0.86750|0.86750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|169	.|Q96G21	.|IMP4_HUMAN	F|I	158|169;169;84;114	.|ENSP00000259239:M169I;ENSP00000386411:M169I;ENSP00000386716:M84I;ENSP00000389701:M114I	.|ENSP00000259239:M169I	C|M	+|+	2|3	0|0	IMP4|IMP4	130819889|130819889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.776000|8.776000	0.91776|0.91776	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	TGC|ATG	.		0.637	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		T	131103419	G	T	131103419	3	4	10	1	0	0	0	0	1	0	0	0	7747	1319	46	3	529	3	IMP4	2	131103419	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	225618	131103419	112095954	63	2389											
RAB3GAP1	22930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	135922249	135922249	+	Frame_Shift_Del	DEL	T	T	-													gcaggatcattcacaagctgTttgtgaatgcccagagggta							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:135922249delT	ENST00000264158.8	+	23	2735	c.2692delT	c.(2692-2694)tttfs	p.F898fs	RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.F854fs|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.F898fs|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	898					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCACAAGCTGTTTGTGAATGC	0.498																																					p.F898fs		.											.	RAB3GAP1-92	0			c.2692delT						.						105	89	94					2																	135922249		2203	4300	6503	SO:0001589	frameshift_variant	22930	exon23			AAGCTGTTTGTGA	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2692delT	2.37:g.135922249delT	ENSP00000264158:p.Phe898fs	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	135	17	NM_001172435	0	0	0	0	0	A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Del	DEL	ENST00000264158.8	37	CCDS33294.1																																																																																			.		0.498	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		-	135922249	T	-	135922249	7	5	10	1	0	1	0	1	0	0	0	0	12980	1725	60	0	2782	0	RAB3GAP1	2	135922249	Frame_Shift_Del	DEL	T	TCGA-OR-A5JB-01A-11D-A29I-10	4818830	135922249	107277124	64	2390											
ZEB2	9839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	145153988	145153988	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcactcatacctgtgtgttCgtatttatgtcgcagaaggg	11	8	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:145153988C>A	ENST00000558170.2	-	9	4242	c.3058G>T	c.(3058-3060)Gaa>Taa	p.E1020*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1020*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E996*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1020*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1020					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTGTGTGTTCGTATTTATGT	0.413																																					p.E1020X	Melanoma(33;1235 1264 5755 16332)	.											.	ZEB2-297	0			c.G3058T						.						320	283	295					2																	145153988		2203	4300	6503	SO:0001587	stop_gained	9839	exon9			TGTGTTCGTATTT	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3058G>T	2.37:g.145153988C>A	ENSP00000454157:p.Glu1020*	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	315	88	NM_014795	0	0	0	0	0	A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	44	10.659469	0.99445	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.3437	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	X	996;1020;1020	.	ENSP00000302501:E1020X	E	-	1	0	ZEB2	144870458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.820000	0.97059	0.650000	0.86243	GAA	.		0.413	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		A	145153988	C	A	145153988	4	1	10	1	0	0	0	0	0	1	0	0	17672	893	31	2	594	2	ZEB2	2	145153988	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	9231739	145153988	98045385	65	2391											
ACVR1	90	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	158626945	158626945	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccctgaaccatgacttcTcatcacgggaggagaagatc	9	11	2	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:158626945T>A	ENST00000263640.3	-	7	1154	c.725A>T	c.(724-726)gAg>gTg	p.E242V	ACVR1_ENST00000410057.2_Missense_Mutation_p.E242V|ACVR1_ENST00000434821.1_Missense_Mutation_p.E242V|ACVR1_ENST00000409283.2_Missense_Mutation_p.E242V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCATGACTTCTCATCACGGGA	0.458																																					p.E242V		.											.	ACVR1-980	0			c.A725T						.						206	175	185					2																	158626945		2203	4300	6503	SO:0001583	missense	90	exon7			GACTTCTCATCAC		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.725A>T	2.37:g.158626945T>A	ENSP00000263640:p.Glu242Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	161	53	NM_001105	0	0	3	4	1		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015598	0.93404	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.02	6.02	0.97574	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	0.79902	0.4526	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81475	-0.0916	10	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	242	Q04771	ACVR1_HUMAN	V	242	ENSP00000263640:E242V;ENSP00000387273:E242V;ENSP00000405004:E242V;ENSP00000387127:E242V	ENSP00000263640:E242V	E	-	2	0	ACVR1	158335191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	GAG	.		0.458	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		A	158626945	T	A	158626945	3	1	10	1	0	0	0	0	1	0	0	0	220	1551	54	5	824	5	ACVR1	2	158626945	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	13472957	158626945	84572428	66	2392											
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166152582	166152582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggaggatctggacccCtactatatcaataagaaagt	8	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:166152582C>A	ENST00000375437.2	+	2	539	c.249C>A	c.(247-249)ccC>ccA	p.P83P	SCN2A_ENST00000283256.6_Silent_p.P83P|SCN2A_ENST00000357398.3_Silent_p.P83P|SCN2A_ENST00000375427.2_Silent_p.P83P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					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)	ATCTGGACCCCTACTATATCA	0.448																																					p.P83P		.											.	SCN2A-142	0			c.C249A						.						94	91	92					2																	166152582		2203	4300	6503	SO:0001819	synonymous_variant	6326	exon1			GGACCCCTACTAT	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.249C>A	2.37:g.166152582C>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	157	62	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166152582	C	A	166152582	2	1	10	1	0	0	0	0	0	0	0	1	13961	668	24	3		3	SCN2A	2	166152582	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7525637	166152582	77046791	67	2393											
SESTD1	91404	bcgsc.ca	37	chr2	179979930	179979930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagtgcagcgcaaagaTtggcataacacaactgtggc	12	9	0	2	rs2289993	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:179979930T>C	ENST00000428443.3	-	16	2017	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	567							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCGCAAAGATTGGCATAACA	0.388													T|||	972	0.194089	0.2882	0.1081	5008	,	,		17715	0.0645		0.166	False		,,,				2504	0.2904				p.Q567Q		.											.	SESTD1-228	0			c.A1701G						.	T		1082,3324	391.7+/-328.2	128,826,1249	71	63	66		1701	0.9	1	2	dbSNP_100	66	1358,7242	265.8+/-286.4	112,1134,3054	no	coding-synonymous	SESTD1	NM_178123.4		240,1960,4303	CC,CT,TT		15.7907,24.5574,18.7606		567/697	179979930	2440,10566	2203	4300	6503	SO:0001819	synonymous_variant	91404	exon16			CAAAGATTGGCAT	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1701A>G	2.37:g.179979930T>C		Somatic	92	1		WXS	Illumina GAIIx	Phase_I	151	5	NM_178123	0	0	10	10	0	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	CCDS33338.1																																																																																			T|0.810;C|0.190		0.388	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179979930	T	C	179979930	2	2	10	1	0	0	0	0	0	0	0	1	14172	1490	52	4		4	SESTD1	2	179979930	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	13827348	179979930	63219443	68	2394											
ITGA4	3676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	182374441	182374441	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcttaccaccttggTcctcatgtcatcagtaaacg	8	12	3	0	rs201546110		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:182374441T>A	ENST00000397033.2	+	16	2182	c.1752T>A	c.(1750-1752)ggT>ggA	p.G584G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	584					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)	ACCACCTTGGTCCTCATGTCA	0.398																																					p.G584G		.											.	ITGA4-230	0			c.T1752A						.						126	112	116					2																	182374441		1873	4106	5979	SO:0001819	synonymous_variant	3676	exon16			CCTTGGTCCTCAT		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.1752T>A	2.37:g.182374441T>A		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	81	14	NM_000885	0	0	2	3	1	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																			.		0.398	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182374441	T	A	182374441	2	1	10	1	0	0	0	0	0	0	0	1	7905	1654	58	5		5	ITGA4	2	182374441	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	2394511	182374441	60824932	69	2395											
PDE1A	5136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	183088596	183088596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttcagacttaccttgtCtgaatgtgaaagttgtttgt	8	6	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:183088596C>T	ENST00000410103.1	-	8	902	c.819G>A	c.(817-819)caG>caA	p.Q273Q	PDE1A_ENST00000456212.1_Silent_p.Q273Q|PDE1A_ENST00000346717.4_Silent_p.Q239Q|PDE1A_ENST00000482538.1_5'Flank|PDE1A_ENST00000409365.1_Silent_p.Q257Q|PDE1A_ENST00000435564.1_Silent_p.Q273Q|PDE1A_ENST00000358139.2_Silent_p.Q273Q|PDE1A_ENST00000331935.6_Silent_p.Q273Q|PDE1A_ENST00000536095.1_Silent_p.Q169Q|PDE1A_ENST00000351439.5_Silent_p.Q257Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	273	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	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)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTTACCTTGTCTGAATGTGAA	0.308																																					p.Q277Q		.											.	PDE1A-93	0			c.G831A						.						68	64	65					2																	183088596		2203	4298	6501	SO:0001819	synonymous_variant	5136	exon8			CCTTGTCTGAATG		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.819G>A	2.37:g.183088596C>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	118	34	NM_001258312	0	0	0	0	0	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	CCDS33344.1																																																																																			.		0.308	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			T	183088596	C	T	183088596	2	4	10	1	0	0	0	0	0	0	0	1	11672	912	32	3		3	PDE1A	2	183088596	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	714155	183088596	60110777	70	2396											
PDE1A	5136	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	183088641	183088641	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatgctcataatcatgAatggcagcagcaaagaccat	8	10	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:183088641A>C	ENST00000410103.1	-	8	857	c.774T>G	c.(772-774)atT>atG	p.I258M	PDE1A_ENST00000456212.1_Missense_Mutation_p.I258M|PDE1A_ENST00000346717.4_Missense_Mutation_p.I224M|PDE1A_ENST00000482538.1_5'Flank|PDE1A_ENST00000409365.1_Missense_Mutation_p.I242M|PDE1A_ENST00000435564.1_Missense_Mutation_p.I258M|PDE1A_ENST00000358139.2_Missense_Mutation_p.I258M|PDE1A_ENST00000331935.6_Missense_Mutation_p.I258M|PDE1A_ENST00000536095.1_Missense_Mutation_p.I154M|PDE1A_ENST00000351439.5_Missense_Mutation_p.I242M	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	258	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	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)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CATAATCATGAATGGCAGCAG	0.318																																					p.I262M		.											.	PDE1A-93	0			c.T786G						.						76	71	73					2																	183088641		2203	4299	6502	SO:0001583	missense	5136	exon8			ATCATGAATGGCA		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.774T>G	2.37:g.183088641A>C	ENSP00000387037:p.Ile258Met	Somatic	172	1		WXS	Illumina GAIIx	Phase_I	190	59	NM_001258312	0	0	0	0	0	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172388	0.57584	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;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;-1.69	5.97	3.67	0.42095	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.048254	0.85682	D	0.000000	D	0.87442	0.6178	M	0.74467	2.265	0.54753	D	0.999986	P;P;B;P;P	0.52577	0.658;0.954;0.438;0.821;0.527	P;D;P;P;P	0.63488	0.582;0.915;0.555;0.813;0.447	D	0.87268	0.2284	10	0.87932	D	0	.	5.6858	0.17803	0.7485:0.0:0.2515:0.0	.	154;224;258;242;258	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	M	258;224;154;242;258;242;258;258;258	ENSP00000410309:I258M;ENSP00000329112:I224M;ENSP00000439938:I154M;ENSP00000386767:I242M;ENSP00000331574:I258M;ENSP00000309269:I242M;ENSP00000387037:I258M;ENSP00000350858:I258M;ENSP00000408874:I258M	ENSP00000331574:I258M	I	-	3	3	PDE1A	182796886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.288000	0.76882	0.533000	0.62120	ATT	.		0.318	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			C	183088641	A	C	183088641	3	2	10	1	0	0	0	0	1	0	0	0	11672	242	9	5	943	5	PDE1A	2	183088641	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	45	183088641	60110732	71	2397											
SF3B1	23451	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	198257760	198257760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccctctagggctcccAtaactgcctgaattacatga	8	13	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:198257760A>G	ENST00000335508.6	-	24	3783	c.3692T>C	c.(3691-3693)aTg>aCg	p.M1231T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1231					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)			TAGGGCTCCCATAACTGCCTG	0.383			Mis		myelodysplastic syndrome																																p.M1231T		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	.	SF3B1-140	0			c.T3692C						.						98	92	94					2																	198257760		2203	4300	6503	SO:0001583	missense	23451	exon24			GCTCCCATAACTG	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.3692T>C	2.37:g.198257760A>G	ENSP00000335321:p.Met1231Thr	Somatic	261	1		WXS	Illumina GAIIx	Phase_I	279	96	NM_012433	0	0	199	362	163	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834236	0.50951	.	.	ENSG00000115524	ENST00000335508	T	0.64260	-0.09	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	L	0.45698	1.435	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.54159	-0.8335	10	0.46703	T	0.11	.	15.4003	0.74834	1.0:0.0:0.0:0.0	.	1231	O75533	SF3B1_HUMAN	T	1231	ENSP00000335321:M1231T	ENSP00000335321:M1231T	M	-	2	0	SF3B1	197966005	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.268000	0.95675	2.059000	0.61396	0.402000	0.26972	ATG	.		0.383	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			G	198257760	A	G	198257760	3	3	10	1	0	0	0	0	1	0	0	0	14194	217	8	4	230	4	SF3B1	2	198257760	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	15169119	198257760	44941613	72	2398											
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	203972654	203972654	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtcgactactgagattgctGagagtggatgaatctgagtc	13	7	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:203972654G>A	ENST00000449802.1	+	13	1938	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	535										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						TGAGATTGCTGAGAGTGGATG	0.493																																					p.L535L		.											.	NBEAL1-92	0			c.G1605A						.						78	61	66					2																	203972654		692	1591	2283	SO:0001819	synonymous_variant	65065	exon13			ATTGCTGAGAGTG	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.1605G>A	2.37:g.203972654G>A		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	109	34	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.493	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			A	203972654	G	A	203972654	2	1	10	1	0	0	0	0	0	0	0	1	10226	1277	45	3		3	NBEAL1	2	203972654	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5714894	203972654	39226719	73	2399											
NBEAL1	65065	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	204075696	204075696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggataagaatgcattaCatctgttttctataaatggc	7	6	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:204075696C>T	ENST00000449802.1	+	53	8047	c.7714C>T	c.(7714-7716)Cat>Tat	p.H2572Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2572										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						GAATGCATTACATCTGTTTTC	0.308																																					p.H2572Y		.											.	NBEAL1-92	0			c.C7714T						.						53	51	51					2																	204075696		1810	4065	5875	SO:0001583	missense	65065	exon53			GCATTACATCTGT	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.7714C>T	2.37:g.204075696C>T	ENSP00000399903:p.His2572Tyr	Somatic	113	1		WXS	Illumina GAIIx	Phase_I	70	13	NM_001114132	0	0	1	1	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981791	0.74474	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.27557	5.06;1.66	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048531	0.85682	D	0.000000	T	0.50257	0.1605	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.957;0.999;0.998	P;D;D	0.79784	0.618;0.993;0.99	T	0.42464	-0.9450	10	0.09338	T	0.73	.	18.1895	0.89803	0.0:1.0:0.0:0.0	.	1282;2572;2561	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	Y	2572;2482;587	ENSP00000399903:H2572Y;ENSP00000388466:H587Y	ENSP00000344985:H2482Y	H	+	1	0	NBEAL1	203783941	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.451000	0.80668	2.285000	0.76669	0.491000	0.48974	CAT	.		0.308	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204075696	C	T	204075696	3	4	10	1	0	0	0	0	1	0	0	0	10226	478	17	3	7920	3	NBEAL1	2	204075696	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	103042	204075696	39123677	74	2400											
CRYGA	1418	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	209028275	209028275	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacctccacaggctcaccttCcccatggttgttgacagagg	9	15	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:209028275C>A	ENST00000304502.4	-	1	25	c.6G>T	c.(4-6)ggG>ggT	p.G2G		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	2	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCTCACCTTCCCCATGGTTG	0.498																																					p.G2G		.											.	CRYGA-90	0			c.G6T						.						238	199	212					2																	209028275		2203	4300	6503	SO:0001819	synonymous_variant	1418	exon1			CACCTTCCCCATG		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.6G>T	2.37:g.209028275C>A		Somatic	203	1		WXS	Illumina GAIIx	Phase_I	317	129	NM_014617	0	0	0	0	0	Q53ST5	Silent	SNP	ENST00000304502.4	37	CCDS33367.1																																																																																			.		0.498	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		A	209028275	C	A	209028275	2	1	10	1	0	0	0	0	0	0	0	1	3921	842	30	3		3	CRYGA	2	209028275	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4952579	209028275	34171098	75	2401											
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	211456582	211456582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcagcctgttttgaatatCacaaacaaacaggctttcat	5	9	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:211456582C>T	ENST00000233072.5	+	10	1171	c.975C>T	c.(973-975)atC>atT	p.I325I	CPS1_ENST00000430249.2_Silent_p.I331I|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	325	Glutamine amidotransferase type-1.				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)	TTTTGAATATCACAAACAAAC	0.393																																					p.I331I		.											.	CPS1-162	0			c.C993T						.						83	81	82					2																	211456582		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon11			GAATATCACAAAC	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.975C>T	2.37:g.211456582C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	56	21	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			.		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211456582	C	T	211456582	2	4	10	1	0	0	0	0	0	0	0	1	3830	816	29	3		3	CPS1	2	211456582	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2428307	211456582	31742791	76	2402											
PECR	55825	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	216930060	216930060	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacatgtagaaggtaccCgtcaggttggtctcaagcac	11	10	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:216930060C>A	ENST00000265322.7	-	3	473	c.399G>T	c.(397-399)acG>acT	p.T133T	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	133					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.T133T(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGAAGGTACCCGTCAGGTTGG	0.458																																					p.T133T		.											.	PECR-90	1	Substitution - coding silent(1)	lung(1)	c.G399T						.						139	132	134					2																	216930060		2203	4300	6503	SO:0001819	synonymous_variant	55825	exon3			GGTACCCGTCAGG	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.399G>T	2.37:g.216930060C>A		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	160	51	NM_018441	0	0	13	27	14	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Silent	SNP	ENST00000265322.7	37	CCDS33375.1																																																																																			.		0.458	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		A	216930060	C	A	216930060	2	1	10	1	0	0	0	0	0	0	0	1	11756	639	23	2		2	PECR	2	216930060	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5473478	216930060	26269313	77	2403											
SPEG	10290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220332029	220332029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggattggctgtgccgtggCcgcctgctgcagcctgcact	15	13	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:220332029C>T	ENST00000312358.7	+	10	3147	c.3015C>T	c.(3013-3015)ggC>ggT	p.G1005G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1005	Ig-like 4.				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)		TGTGCCGTGGCCGCCTGCTGC	0.622																																					p.G1005G		.											.	SPEG-383	0			c.C3015T						.						49	59	56					2																	220332029		2147	4247	6394	SO:0001819	synonymous_variant	10290	exon10			CCGTGGCCGCCTG	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.3015C>T	2.37:g.220332029C>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	105	34	NM_005876	0	0	0	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																			.		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220332029	C	T	220332029	2	4	10	1	0	0	0	0	0	0	0	1	15083	726	26	3		3	SPEG	2	220332029	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	3401969	220332029	22867344	78	2404											
CUL3	8452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	225379488	225379488	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgtacatacacacggTcctacagttaaagtcatata	6	8	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:225379488T>A	ENST00000264414.4	-	4	718	c.380A>T	c.(379-381)gAc>gTc	p.D127V	CUL3_ENST00000409777.1_Splice_Site_p.D103V|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Splice_Site_p.D61V|CUL3_ENST00000409096.1_Splice_Site_p.D103V	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	127					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATACACACGGTCCTACAGTTA	0.308																																					p.D133V		.											.	CUL3-229	0			c.A398T						.						92	79	83					2																	225379488		2202	4300	6502	SO:0001630	splice_region_variant	8452	exon4			ACACGGTCCTACA	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.379-1A>T	2.37:g.225379488T>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	128	48	NM_001257198	0	0	0	0	0	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800614	0.90538	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.97587	4.035	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.68765	0.96;0.96;0.96	D	0.95497	0.8574	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	61;105;127	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	V	127;61;103;103	ENSP00000264414:D127V;ENSP00000343601:D61V;ENSP00000387200:D103V;ENSP00000386525:D103V	ENSP00000264414:D127V	D	-	2	0	CUL3	225087732	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAC	.		0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation	A	225379488	T	A	225379488	5	1	10	1	0	0	0	0	0	0	1	0	4065	1681	58	5	1978	5	CUL3	2	225379488	Splice_Site	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	5047459	225379488	17819885	79	2405											
KIAA1486	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	226447396	226447396	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacccccgtctacgctgtaCcgaacccagtctccccatgg	7	20	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:226447396C>G	ENST00000272907.6	+	4	1676	c.1263C>G	c.(1261-1263)taC>taG	p.Y421*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	421	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTACGCTGTACCGAACCCAGT	0.662																																					p.Y421X		.											.	.	0			c.C1263G						.						27	32	31					2																	226447396		2039	4166	6205	SO:0001587	stop_gained	57624	exon4			GCTGTACCGAACC	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.1263C>G	2.37:g.226447396C>G	ENSP00000272907:p.Tyr421*	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	210	65	NM_020864	0	0	0	0	0	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	40	8.149090	0.98678	.	.	ENSG00000144460	ENST00000272907	.	.	.	5.19	4.3	0.51218	.	0.065479	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2634	14.1059	0.65088	0.0:0.9263:0.0:0.0737	.	.	.	.	X	421	.	ENSP00000272907:Y421X	Y	+	3	2	KIAA1486	226155640	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.334000	0.43920	2.415000	0.81967	0.563000	0.77884	TAC	.		0.662	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		G	226447396	C	G	226447396	4	3	10	1	0	0	0	0	0	1	0	0	8264	518	18	3	1273	3	KIAA1486	2	226447396	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1067908	226447396	16751977	80	2406											
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228883966	228883966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgcttgagtttgcagtGcaccactgctccctggggga	16	10	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:228883966G>T	ENST00000392056.3	-	7	1650	c.1604C>A	c.(1603-1605)gCa>gAa	p.A535E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A535E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	535						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)		AGTTTGCAGTGCACCACTGCT	0.522																																					p.A535E		.											.	SPHKAP-167	0			c.C1604A						.						80	70	74					2																	228883966		2203	4300	6503	SO:0001583	missense	80309	exon7			TGCAGTGCACCAC		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.1604C>A	2.37:g.228883966G>T	ENSP00000375909:p.Ala535Glu	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	60	17	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250851	0.01469	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.41065	1.01;1.01	5.5	-3.4	0.04853	.	1.503160	0.03566	N	0.227886	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.22591	-1.0212	10	0.02654	T	1	.	5.0606	0.14555	0.289:0.0:0.1763:0.5347	.	535;535	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	535	ENSP00000375909:A535E;ENSP00000339886:A535E	ENSP00000339886:A535E	A	-	2	0	SPHKAP	228592210	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.209000	0.17435	-0.396000	0.07703	0.655000	0.94253	GCA	.		0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228883966	G	T	228883966	3	4	10	1	0	0	0	0	1	0	0	0	15095	1319	46	3	3522	3	SPHKAP	2	228883966	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2436570	228883966	14315407	81	2407											
TRPM8	79054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234878408	234878408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actggaagattatcctgtgtCtgtttattatacccttggtg	9	7	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:234878408C>G	ENST00000324695.4	+	16	2135	c.2095C>G	c.(2095-2097)Ctg>Gtg	p.L699V	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	699					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATCCTGTGTCTGTTTATTAT	0.428																																					p.L699V		.											.	TRPM8-94	0			c.C2095G						.						230	205	213					2																	234878408		2203	4300	6503	SO:0001583	missense	79054	exon16			CTGTGTCTGTTTA	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.2095C>G	2.37:g.234878408C>G	ENSP00000323926:p.Leu699Val	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	257	106	NM_024080	0	0	0	0	0	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473481	0.63737	.	.	ENSG00000144481	ENST00000324695	T	0.63913	-0.07	5.37	4.47	0.54385	.	0.137318	0.33457	N	0.004895	T	0.73249	0.3563	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.74765	-0.3554	10	0.62326	D	0.03	-12.9936	12.0539	0.53522	0.0:0.9126:0.0:0.0874	.	699	Q7Z2W7	TRPM8_HUMAN	V	699	ENSP00000323926:L699V	ENSP00000323926:L699V	L	+	1	2	TRPM8	234543147	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.876000	0.39588	1.221000	0.43506	0.460000	0.39030	CTG	.		0.428	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		G	234878408	C	G	234878408	3	3	10	1	0	0	0	0	1	0	0	0	16640	912	32	3	2153	3	TRPM8	2	234878408	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5994442	234878408	8320965	82	2408											
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	15778712	15778712	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcgagcattaacatctgcaGaatgcttcaaaagtacctga	7	10	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:15778712G>C	ENST00000399451.2	-	5	657	c.290C>G	c.(289-291)tCt>tGt	p.S97C	ANKRD28_ENST00000383777.1_Missense_Mutation_p.S130C|ANKRD28_ENST00000497037.1_5'UTR|RN7SL4P_ENST00000584058.1_RNA	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	97						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACATCTGCAGAATGCTTCAA	0.348																																					p.S97C		.											.	ANKRD28-135	0			c.C290G						.						77	69	71					3																	15778712		1838	4086	5924	SO:0001583	missense	23243	exon5			TCTGCAGAATGCT	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.290C>G	3.37:g.15778712G>C	ENSP00000382379:p.Ser97Cys	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	46	24	NM_015199	0	0	0	3	3	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832226	0.91036	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65732	-0.17;-0.17;-0.17	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	N	0.21508	0.67	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.70935	0.951;0.879;0.971	T	0.74016	-0.3800	10	0.87932	D	0	.	19.1023	0.93279	0.0:0.0:1.0:0.0	.	130;127;97	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	C	97;130;97	ENSP00000382379:S97C;ENSP00000373287:S130C;ENSP00000397341:S97C	ENSP00000373287:S130C	S	-	2	0	ANKRD28	15753716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.513000	0.84729	0.650000	0.86243	TCT	.		0.348	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		C	15778712	G	C	15778712	3	2	10	1	0	0	0	0	1	0	0	0	656	942	33	3	2967	3	ANKRD28	3	15778712	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		15778712	182243718	83	2409											
GOLGA4	2803	hgsc.bcm.edu	37	chr3	37336491	37336491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccaaatggaccagcagGcaaagaaacatctgcaagag	10	10	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:37336491G>T	ENST00000361924.2	+	6	978	c.604G>T	c.(604-606)Gca>Tca	p.A202S	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A224S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	202	Interaction with MACF1.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGACCAGCAGGCAAAGAAACA	0.318																																					p.A224S		.											.	GOLGA4-93	0			c.G670T						.						93	101	98					3																	37336491		2203	4300	6503	SO:0001583	missense	2803	exon7			CAGCAGGCAAAGA	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.604G>T	3.37:g.37336491G>T	ENSP00000354486:p.Ala202Ser	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	81	6	NM_001172713	0	0	0	0	0	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257830	0.95368	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.76	4.76	0.60689	.	0.000000	0.34853	N	0.003634	T	0.57036	0.2026	M	0.76328	2.33	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.993	T	0.60525	-0.7246	10	0.52906	T	0.07	.	18.126	0.89586	0.0:0.0:1.0:0.0	.	202;224;202	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	S	202;224;207;73	ENSP00000354486:A202S;ENSP00000349305:A224S;ENSP00000387633:A207S;ENSP00000405842:A73S	ENSP00000349305:A224S	A	+	1	0	GOLGA4	37311495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.761000	0.98940	2.366000	0.80165	0.460000	0.39030	GCA	.		0.318	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37336491	G	T	37336491	3	4	10	1	0	0	0	0	1	0	0	0	6581	1203	42	3	696	3	GOLGA4	3	37336491	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	21557779	37336491	160685939	84	2410											
HHATL	57467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42739085	42739085	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaaagaagatgtcgacGgccatgatggccaccacgct	12	10	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:42739085G>T	ENST00000441594.1	-	7	1041	c.780C>A	c.(778-780)gcC>gcA	p.A260A	HHATL_ENST00000310417.5_Silent_p.A260A	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	260					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGATGTCGACGGCCATGATGG	0.617																																					p.A260A		.											.	HHATL-93	0			c.C780A						.						125	117	119					3																	42739085		2203	4300	6503	SO:0001819	synonymous_variant	57467	exon7			GTCGACGGCCATG	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.780C>A	3.37:g.42739085G>T		Somatic	214	0		WXS	Illumina GAIIx	Phase_I	230	122	NM_020707	0	0	0	0	0	Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	CCDS2704.1																																																																																			.		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		T	42739085	G	T	42739085	2	4	10	1	0	0	0	0	0	0	0	1	7117	1103	39	2		2	HHATL	3	42739085	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5402594	42739085	155283345	85	2411											
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49692898	49692898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggccccatgaggagcagaGgccctacccacaaggcctgc	13	15	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:49692898G>T	ENST00000296452.4	+	5	6023	c.5909G>T	c.(5908-5910)aGg>aTg	p.R1970M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1970					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGGAGCAGAGGCCCTACCCA	0.652																																					p.R1970M		.											.	BSN-97	0			c.G5909T						.						43	41	42					3																	49692898		2203	4300	6503	SO:0001583	missense	8927	exon5			AGCAGAGGCCCTA	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5909G>T	3.37:g.49692898G>T	ENSP00000296452:p.Arg1970Met	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	18	10	NM_003458	0	0	0	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154709	0.38021	.	.	ENSG00000164061	ENST00000296452	T	0.20332	2.08	5.1	4.1	0.47936	.	0.048470	0.85682	D	0.000000	T	0.19685	0.0473	N	0.22421	0.69	0.41440	D	0.987916	D	0.56521	0.976	P	0.53185	0.72	T	0.01130	-1.1442	10	0.62326	D	0.03	-17.4796	5.9671	0.19330	0.2884:0.0:0.7116:0.0	.	1970	Q9UPA5	BSN_HUMAN	M	1970	ENSP00000296452:R1970M	ENSP00000296452:R1970M	R	+	2	0	BSN	49667902	.	.	1.000000	0.80357	0.968000	0.65278	.	.	2.380000	0.81148	0.561000	0.74099	AGG	.		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49692898	G	T	49692898	3	4	10	1	0	0	0	0	1	0	0	0	1534	1000	35	3	5927	3	BSN	3	49692898	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6953813	49692898	148329532	86	2412											
RBM15B	29890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	51430916	51430916	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacagaggccgagcccAagcctctggaagagccaaaa	12	13	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:51430916A>T	ENST00000323686.4	+	1	2186	c.2086A>T	c.(2086-2088)Aag>Tag	p.K696*		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	696					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)		GGCCGAGCCCAAGCCTCTGGA	0.567																																					p.K696X		.											.	RBM15B-90	0			c.A2086T						.						91	93	93					3																	51430916		2203	4300	6503	SO:0001587	stop_gained	29890	exon1			GAGCCCAAGCCTC	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.2086A>T	3.37:g.51430916A>T	ENSP00000313890:p.Lys696*	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	206	123	NM_013286	0	0	5	46	41	A4QPG7|Q6QE19|Q9BV96	Nonsense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	A	35	5.479312	0.96307	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	.	.	.	5.54	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-23.8602	8.5193	0.33266	0.8511:0.0:0.1489:0.0	.	.	.	.	X	696;17;369;115	.	ENSP00000313890:K696X	K	+	1	0	RBM15B	51405956	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.377000	0.73145	0.931000	0.37242	0.533000	0.62120	AAG	.		0.567	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		T	51430916	A	T	51430916	4	4	10	1	0	0	0	0	0	1	0	0	13162	131	5	5	2088	5	RBM15B	3	51430916	Nonsense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	1738018	51430916	146591514	87	2413											
DNAH1	25981	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52430932	52430932	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attacgggggccgtgtcactGatgactgggaccggcgctgc	16	11	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:52430932G>T	ENST00000420323.2	+	73	11920	c.11659G>T	c.(11659-11661)Gat>Tat	p.D3887Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3952	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGTGTCACTGATGACTGGGA	0.617																																					p.D3887Y		.											.	DNAH1-67	0			c.G11659T						.						49	53	52					3																	52430932		1984	4165	6149	SO:0001583	missense	25981	exon73			GTCACTGATGACT	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11659G>T	3.37:g.52430932G>T	ENSP00000401514:p.Asp3887Tyr	Somatic	150	1		WXS	Illumina GAIIx	Phase_I	114	68	NM_015512	0	0	1	2	1	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224206	0.79576	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.15017	2.46	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.62011	0.2393	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.79227	-0.1890	10	0.87932	D	0	.	18.778	0.91920	0.0:0.0:1.0:0.0	.	3887;3952	C9JXH6;Q9P2D7-2	.;.	Y	3887;640	ENSP00000401514:D3887Y	ENSP00000273600:D640Y	D	+	1	0	DNAH1	52405972	1.000000	0.71417	0.071000	0.20095	0.810000	0.45777	9.578000	0.98200	2.433000	0.82419	0.655000	0.94253	GAT	.		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52430932	G	T	52430932	3	4	10	1	0	0	0	0	1	0	0	0	4611	1290	45	3	11945	3	DNAH1	3	52430932	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1000016	52430932	145591498	88	2414											
ARHGEF3	50650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	56992915	56992915	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttttgccgctgccgtttaGgcctagaagagaaaagacaa	11	8	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:56992915G>C	ENST00000338458.4	-	3	174	c.65C>G	c.(64-66)cCt>cGt	p.P22R	ARHGEF3-AS1_ENST00000477246.1_RNA	NM_001128615.1	NP_001122087.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	0					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)		CTGCCGTTTAGGCCTAGAAGA	0.443																																					p.P22R		.											.	ARHGEF3-228	0			c.C65G						.						225	192	202					3																	56992915		692	1591	2283	SO:0001583	missense	50650	exon3			CGTTTAGGCCTAG	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	ENST00000338458.4:c.65C>G	3.37:g.56992915G>C	ENSP00000341071:p.Pro22Arg	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	130	78	NM_001128615	0	0	0	0	0	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000338458.4	37	CCDS46854.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900928	0.52227	.	.	ENSG00000163947	ENST00000338458;ENST00000473779;ENST00000468466	T	0.23754	1.89	5.69	3.9	0.45041	.	0.944369	0.08738	N	0.901020	T	0.27134	0.0665	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.53912	0.737	T	0.10428	-1.0630	10	0.07030	T	0.85	.	8.4899	0.33093	0.1766:0.0:0.8233:0.0	.	22	Q9NR81-2	.	R	22;8;22	ENSP00000341071:P22R	ENSP00000341071:P22R	P	-	2	0	ARHGEF3	56967955	0.999000	0.42202	0.976000	0.42696	0.971000	0.66376	2.754000	0.47532	0.759000	0.33084	0.585000	0.79938	CCT	.		0.443	ARHGEF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352432.2	NM_019555		C	56992915	G	C	56992915	3	2	10	1	0	0	0	0	1	0	0	0	904	1000	35	3	1873	3	ARHGEF3	3	56992915	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4561983	56992915	141029515	89	2415											
PSMD6	9861	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	64008128	64008128	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatttgccttcttcaTtttattgagtaggtccacgt	6	9	4	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:64008128T>A	ENST00000295901.4	-	2	357	c.217A>T	c.(217-219)Atg>Ttg	p.M73L	PSMD6_ENST00000482510.1_Missense_Mutation_p.M34L|PSMD6_ENST00000492933.1_Missense_Mutation_p.M126L|PSMD6_ENST00000394431.2_Missense_Mutation_p.M35L|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	73					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCCTTCTTCATTTTATTGAGT	0.453																																					p.M126L		.											.	PSMD6-91	0			c.A376T						.						183	175	178					3																	64008128		2203	4300	6503	SO:0001583	missense	9861	exon3			TCTTCATTTTATT	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.217A>T	3.37:g.64008128T>A	ENSP00000295901:p.Met73Leu	Somatic	171	2		WXS	Illumina GAIIx	Phase_I	149	81	NM_001271779	0	0	8	30	22	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283589	0.59867	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	.	.	.	5.19	5.19	0.71726	.	0.035400	0.85682	D	0.000000	T	0.52869	0.1761	L	0.42529	1.33	0.80722	D	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.001	B;B;B;B	0.23574	0.01;0.019;0.047;0.009	T	0.48703	-0.9012	9	0.07813	T	0.8	.	15.2232	0.73330	0.0:0.0:0.0:1.0	.	35;34;126;73	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	L	73;126;35;34;87;94	.	ENSP00000295901:M73L	M	-	1	0	PSMD6	63983168	1.000000	0.71417	0.925000	0.36789	0.994000	0.84299	7.775000	0.85489	2.184000	0.69523	0.533000	0.62120	ATG	.		0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		A	64008128	T	A	64008128	3	1	10	1	0	0	0	0	1	0	0	0	12744	1493	52	5	980	5	PSMD6	3	64008128	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	7015213	64008128	134014302	90	2416											
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	77666782	77666782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgttcgaggcgtgGcttcttctcctgctatctcc	8	16	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:77666782G>T	ENST00000461745.1	+	22	4312	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S	ROBO2_ENST00000332191.8_Missense_Mutation_p.A1138S|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1154S|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1138					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCGAGGCGTGGCTTCTTCTCC	0.522																																					p.A1138S		.											.	ROBO2-328	0			c.G3412T						.						108	104	105					3																	77666782		2051	4196	6247	SO:0001583	missense	6092	exon22			GGCGTGGCTTCTT	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3412G>T	3.37:g.77666782G>T	ENSP00000417164:p.Ala1138Ser	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	164	93	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.61|18.61	3.661096|3.661096	0.67700|0.67700	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.67865|.	-0.29;-0.25;-0.14|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.45606|.	D|.	0.000349|.	T|T	0.71048|0.71048	0.3294|0.3294	L|L	0.50333|0.50333	1.59|1.59	0.28041|.	N|.	0.933764|.	D;B;B|.	0.63880|.	0.993;0.169;0.085|.	D;B;B|.	0.72625|.	0.978;0.046;0.01|.	T|T	0.66732|0.66732	-0.5849|-0.5849	9|4	0.44086|.	T|.	0.13|.	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1154;1138;1138|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	S|C	1154;1154;1138;1138|294	ENSP00000417335:A1154S;ENSP00000417164:A1138S;ENSP00000327536:A1138S|.	ENSP00000327536:A1138S|.	A|W	+|+	1|3	0|0	ROBO2|ROBO2	77749472|77749472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	6.409000|6.409000	0.73289|0.73289	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GCT|TGG	.		0.522	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77666782	G	T	77666782	3	4	10	1	0	0	0	0	1	0	0	0	13559	1203	42	3	3500	3	ROBO2	3	77666782	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	13658654	77666782	120355648	91	2417											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	10	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	44965114	122631896	75390534	92	2418											
P2RY14	9934	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	150931660	150931660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagcaaggaggagcaTgagcatccatactatcactg	11	9	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:150931660T>C	ENST00000309170.3	-	3	757	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M149V|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	149					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAGGAGCATGAGCATCCAT	0.388																																					p.M149V		.											.	P2RY14-563	0			c.A445G						.						123	113	116					3																	150931660		2203	4300	6503	SO:0001583	missense	9934	exon3			GGAGCATGAGCAT	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.445A>G	3.37:g.150931660T>C	ENSP00000308361:p.Met149Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	168	13	NM_014879	0	0	0	0	0	Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	T	6.595	0.478097	0.12521	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.35605	1.3;1.3	5.9	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.340768	0.31347	N	0.007810	T	0.22820	0.0551	L	0.36672	1.1	0.09310	N	1	B	0.25169	0.119	B	0.33799	0.17	T	0.36065	-0.9763	10	0.02654	T	1	-26.8079	4.1317	0.10152	0.1154:0.0652:0.2398:0.5795	.	149	Q15391	P2Y14_HUMAN	V	149	ENSP00000308361:M149V;ENSP00000408733:M149V	ENSP00000308361:M149V	M	-	1	0	P2RY14	152414350	0.000000	0.05858	0.378000	0.26068	0.168000	0.22595	-0.021000	0.12504	0.480000	0.27534	0.528000	0.53228	ATG	.		0.388	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		C	150931660	T	C	150931660	3	2	10	1	0	0	0	0	1	0	0	0	11390	1464	51	4	575	4	P2RY14	3	150931660	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	28299764	150931660	47090770	93	2419											
NAALADL2	254827	broad.mit.edu	37	chr3	175293828	175293829	+	Splice_Site	INS	-	-	A													atttaaattatgtttttcagINSaaaaataatttcaactgtac							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:175293828_175293829insA	ENST00000454872.1	+	10	1781_1782		c.e10-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGTTTTTCAGAAAAATAATTT	0.381																																					.		.											.	NAALADL2-47	0			c.1654-1->A						.																																			SO:0001630	splice_region_variant	254827	exon10			TTTTCAGAAAAAT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1654-1->A	3.37:g.175293833_175293833dupA		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	54	8	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	INS	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.381	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	A	175293829	-	A	175293828	8	5	10	1	0	1	1	0	0	0	1	0	10168	956	33	0	1691	0	NAALADL2	3	175293828	Splice_Site	INS	-	TCGA-OR-A5JB-01A-11D-A29I-10	24362168	175293828	22728602	94	2420											
TNK2	10188	hgsc.bcm.edu	37	chr3	195594805	195594805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcacccggggaggggaAgcaggtccaggccactggct	19	11	0	0	rs1056749	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:195594805A>G	ENST00000333602.6	-	12	2936	c.2319T>C	c.(2317-2319)gcT>gcC	p.A773A	TNK2_ENST00000392400.1_Silent_p.A773A|TNK2_ENST00000428187.1_Silent_p.A805A|TNK2_ENST00000381916.2_Silent_p.A851A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	773	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGAGGGGAAGCAGGTCCAG	0.746													a|||	593	0.118411	0.1505	0.0865	5008	,	,		11184	0.0327		0.175	False		,,,				2504	0.1278				p.A851A		.											.	TNK2-957	0			c.T2553C						.		,	451,3449		26,399,1525	5	7	6		2553,2319	-1.4	0.8	3	dbSNP_86	6	1067,6843		74,919,2962	no	coding-synonymous,coding-synonymous	TNK2	NM_001010938.1,NM_005781.4	,	100,1318,4487	GG,GA,AA		13.4893,11.5641,12.8535	,	851/1087,773/1039	195594805	1518,10292	1950	3955	5905	SO:0001819	synonymous_variant	10188	exon13			AGGGGAAGCAGGT	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.2319T>C	3.37:g.195594805A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_001010938	0	0	1	6	5	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																			A|0.886;G|0.114		0.746	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195594805	A	G	195594805	2	3	10	1	0	0	0	0	0	0	0	1	16365	59	3	4		4	TNK2	3	195594805	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	20300977	195594805	2427625	95	2421											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_175918	0	0	3	5	2	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	10	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10		1388974	189765302	96	2422											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	44	22	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	10	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2839482	4228456	186925820	97	2423											
GPR78	27201	hgsc.bcm.edu	37	chr4	8583231	8583231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcgcagccttcaccgcCacgctccatgccgtgggctt	10	18	1	0	rs61741008	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:8583231C>A	ENST00000382487.4	+	1	939	c.522C>A	c.(520-522)gcC>gcA	p.A174A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	174					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCACCGCCACGCTCCATG	0.697													C|||	24	0.00479233	0	0.0043	5008	,	,		16694	0		0.0189	False		,,,				2504	0.002				p.A174A		.											.	GPR78-516	0			c.C522A						.	C		8,4196		0,8,2094	10	11	10		522	-1	0	4	dbSNP_129	10	97,8169		0,97,4036	no	coding-synonymous	GPR78	NM_080819.2		0,105,6130	AA,AC,CC		1.1735,0.1903,0.842		174/364	8583231	105,12365	2102	4133	6235	SO:0001819	synonymous_variant	27201	exon1			CACCGCCACGCTC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.522C>A	4.37:g.8583231C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	6	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			C|0.992;A|0.008		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583231	C	A	8583231	2	1	10	1	0	0	0	0	0	0	0	1	6736	581	21	3		3	GPR78	4	8583231	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4354775	8583231	182571045	98	2424											
KCNIP4	80333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20884247	20884247	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttgaatagcaggagaCgacgttttggcagctgagca	13	7	0	3	rs374165010	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:20884247C>A	ENST00000382152.2	-	2	314	c.147G>T	c.(145-147)tcG>tcT	p.S49S	KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	49						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)				TAGCAGGAGACGACGTTTTGG	0.448																																					p.S29S		.											.	KCNIP4-91	0			c.G87T						.						84	83	83					4																	20884247		1963	4177	6140	SO:0001819	synonymous_variant	80333	exon1			AGGAGACGACGTT	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.147G>T	4.37:g.20884247C>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	34	18	NM_025221	0	0	0	0	0	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	CCDS43216.1																																																																																			.		0.448	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		A	20884247	C	A	20884247	2	1	10	1	0	0	0	0	0	0	0	1	8069	523	19	2		2	KCNIP4	4	20884247	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	12301016	20884247	170270029	99	2425											
GABRA2	2555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	46252425	46252425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaaaactattctggacattCtgtcaattttgctaacactg	6	8	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:46252425C>G	ENST00000510861.1	-	10	1429	c.1256G>C	c.(1255-1257)aGa>aCa	p.R419T	GABRA2_ENST00000514090.1_Missense_Mutation_p.R419T|GABRA2_ENST00000356504.1_Missense_Mutation_p.R419T|GABRA2_ENST00000381620.4_Missense_Mutation_p.R419T|GABRA2_ENST00000540012.1_Missense_Mutation_p.R424T|GABRA2_ENST00000507069.1_Missense_Mutation_p.R479T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	419					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)	TCTGGACATTCTGTCAATTTT	0.398																																					p.R419T		.											.	GABRA2-94	0			c.G1256C						.						174	176	175					4																	46252425		2203	4299	6502	SO:0001583	missense	2555	exon10			GACATTCTGTCAA		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.1256G>C	4.37:g.46252425C>G	ENSP00000421828:p.Arg419Thr	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	58	31	NM_000807	0	0	0	0	0	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669367	0.67814	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	N	0.21194	0.64	0.54753	D	0.999985	D;P	0.59357	0.985;0.863	P;P	0.53401	0.725;0.601	T	0.82882	-0.0237	10	0.11182	T	0.66	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	424;419	B7Z1H8;P47869	.;GBRA2_HUMAN	T	419;419;419;419;424;479	ENSP00000421828:R419T;ENSP00000421300:R419T;ENSP00000371033:R419T;ENSP00000348897:R419T;ENSP00000444409:R424T;ENSP00000427603:R479T	ENSP00000348897:R419T	R	-	2	0	GABRA2	45947182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.827000	0.97445	0.655000	0.94253	AGA	.		0.398	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			G	46252425	C	G	46252425	3	3	10	1	0	0	0	0	1	0	0	0	6185	913	32	3	103	3	GABRA2	4	46252425	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	25368178	46252425	144901851	100	2426											
CORIN	10699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	47765548	47765548	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgagaggagaggtgtcagCgtggcgtggtagggcagcat	19	6	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:47765548C>G	ENST00000273857.4	-	4	464	c.465G>C	c.(463-465)acG>acC	p.T155T	CORIN_ENST00000504584.1_Silent_p.T155T|CORIN_ENST00000502252.1_Silent_p.T88T|CORIN_ENST00000508498.1_Silent_p.T16T|CORIN_ENST00000505909.1_Silent_p.T155T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	155	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						GAGGTGTCAGCGTGGCGTGGT	0.468																																					p.T155T		.											.	CORIN-91	0			c.G465C						.						146	138	141					4																	47765548		2203	4300	6503	SO:0001819	synonymous_variant	10699	exon4			TGTCAGCGTGGCG	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.465G>C	4.37:g.47765548C>G		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	156	85	NM_006587	0	0	0	0	0	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																			.		0.468	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			G	47765548	C	G	47765548	2	3	10	1	0	0	0	0	0	0	0	1	3759	755	27	2		2	CORIN	4	47765548	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1513123	47765548	143388728	101	2427											
TMPRSS11B	132724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69094576	69094576	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaataatcttcaaaaagtCttcttgaagtatcactggaa	6	7	6	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:69094576C>A	ENST00000332644.5	-	9	1134	c.973G>T	c.(973-975)Gac>Tac	p.D325Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	325	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> A (in dbSNP:rs2319796). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			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						TTCAAAAAGTCTTCTTGAAGT	0.353																																					p.D325Y		.											.	TMPRSS11B-91	0			c.G973T						.						107	97	100					4																	69094576		2203	4300	6503	SO:0001583	missense	132724	exon9			AAAAGTCTTCTTG	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.973G>T	4.37:g.69094576C>A	ENSP00000330475:p.Asp325Tyr	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	140	76	NM_182502	0	0	0	0	0	A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093892	0.36952	.	.	ENSG00000185873	ENST00000332644	D	0.92647	-3.08	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42548	D	0.000684	D	0.82903	0.5138	N	0.04508	-0.205	0.23519	N	0.997509	B	0.10296	0.003	B	0.08055	0.003	T	0.75698	-0.3227	10	0.87932	D	0	.	15.3496	0.74373	0.0:1.0:0.0:0.0	.	325	Q86T26	TM11B_HUMAN	Y	325	ENSP00000330475:D325Y	ENSP00000330475:D325Y	D	-	1	0	TMPRSS11B	68777171	1.000000	0.71417	0.432000	0.26747	0.568000	0.35870	5.929000	0.70096	2.584000	0.87258	0.655000	0.94253	GAC	.		0.353	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		A	69094576	C	A	69094576	3	1	10	1	0	0	0	0	1	0	0	0	16287	913	32	3	285	3	TMPRSS11B	4	69094576	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	21329028	69094576	122059700	102	2428											
UGT2A3	79799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69817028	69817028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtctccacagggaatcaCagggtctataagcattacat	9	10	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:69817028C>A	ENST00000251566.4	-	1	481	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	151					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGGAATCACAGGGTCTATA	0.433																																					p.V151L		.											.	UGT2A3-92	0			c.G451T						.						73	73	73					4																	69817028		2203	4300	6503	SO:0001583	missense	79799	exon1			GAATCACAGGGTC		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.451G>T	4.37:g.69817028C>A	ENSP00000251566:p.Val151Leu	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	146	72	NM_024743	0	0	0	0	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745177	0.15710	.	.	ENSG00000135220	ENST00000251566	T	0.63580	-0.05	4.74	-0.26	0.12967	.	0.854162	0.10100	N	0.716105	T	0.41858	0.1177	L	0.31752	0.955	0.09310	N	0.999993	B	0.17465	0.022	B	0.23419	0.046	T	0.26950	-1.0088	10	0.25751	T	0.34	.	0.4973	0.00573	0.2808:0.3274:0.1372:0.2546	.	151	Q6UWM9	UD2A3_HUMAN	L	151	ENSP00000251566:V151L	ENSP00000251566:V151L	V	-	1	0	UGT2A3	69851617	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.395000	0.02516	-0.030000	0.13804	-0.218000	0.12543	GTG	.		0.433	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		A	69817028	C	A	69817028	3	1	10	1	0	0	0	0	1	0	0	0	17004	478	17	3	1156	3	UGT2A3	4	69817028	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	722452	69817028	121337248	103	2429											
DSPP	1834	bcgsc.ca	37	chr4	88536233	88536238	+	In_Frame_Del	DEL	AGTGAT	AGTGAT	-													gcagtgatagcagcaacagcAgtgatagcagtgatagcagt					rs555978267	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	AGTGAT	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:88536233_88536238delAGTGAT	ENST00000282478.7	+	4	2452_2457	c.2419_2424delAGTGAT	c.(2419-2424)agtgatdel	p.SD807del	DSPP_ENST00000399271.1_In_Frame_Del_p.SD807del|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	807	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)		cagcaacagcagtgatagcagtgata	0.49																																					p.807_808del		.											.	DSPP-90	0			c.2419_2424del						.																																			SO:0001651	inframe_deletion	1834	exon5			AACAGCAGTGATA	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.2419_2424delAGTGAT	4.37:g.88536233_88536238delAGTGAT	ENSP00000282478:p.Ser807_Asp808del	Somatic	968	8		WXS	Illumina GAIIx	Phase_I	987	27	NM_014208	0	0	0	0	0	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.49	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88536238	AGTGAT	-	88536233	7	5	10	1	0	1	0	1	0	0	0	0	4796	188	7	0	2433	0	DSPP	4	88536233	In_Frame_Del	DEL	AGTGAT	TCGA-OR-A5JB-01A-11D-A29I-10	18719205	88536233	102618043	104	2430											
FAM190A	401145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	91389426	91389426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctgtcgtctcatgtgccGcagtagttcttactcctatg	8	12	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:91389426G>T	ENST00000509176.1	+	5	1933	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	CCSER1_ENST00000333691.8_Missense_Mutation_p.A549S|CCSER1_ENST00000432775.2_Missense_Mutation_p.A549S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	549								p.A549P(2)|p.A551P(1)									CTCATGTGCCGCAGTAGTTCT	0.373																																					p.A549S		.											.	.	3	Substitution - Missense(3)	lung(3)	c.G1645T						.						79	76	77					4																	91389426		1846	4096	5942	SO:0001583	missense	401145	exon5			TGTGCCGCAGTAG		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.1645G>T	4.37:g.91389426G>T	ENSP00000425040:p.Ala549Ser	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	100	60	NM_001145065	0	0	0	0	0	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191302	0.38707	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.45668	1.44;0.89;1.44	4.63	4.63	0.57726	.	0.188140	0.46145	D	0.000301	T	0.49983	0.1589	L	0.40543	1.245	0.30771	N	0.743037	D;D	0.69078	0.986;0.997	P;P	0.62813	0.865;0.907	T	0.44190	-0.9344	10	0.17832	T	0.49	-10.411	15.2528	0.73561	0.0:0.0:1.0:0.0	.	549;549	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	S	549	ENSP00000425040:A549S;ENSP00000389283:A549S;ENSP00000329482:A549S	ENSP00000329482:A549S	A	+	1	0	FAM190A	91608449	1.000000	0.71417	0.504000	0.27639	0.257000	0.26127	5.103000	0.64578	2.514000	0.84764	0.467000	0.42956	GCA	.		0.373	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		T	91389426	G	T	91389426	3	4	10	1	0	0	0	0	1	0	0	0	5540	1087	38	2	1659	2	FAM190A	4	91389426	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2853193	91389426	99764850	105	2431											
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	96762414	96762414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatctacagcagtgattcAtcttttgaagttcgtggtgc	9	9	3	2	rs150761581	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:96762414A>G	ENST00000295266.4	+	1	1176	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	371					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCAGTGATTCATCTTTTGAAG	0.428																																					p.S371S		.											.	PDHA2-90	0			c.A1113G						.						119	108	112					4																	96762414		2203	4300	6503	SO:0001819	synonymous_variant	5161	exon1			TGATTCATCTTTT		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1113A>G	4.37:g.96762414A>G		Somatic	172	0		WXS	Illumina GAIIx	Phase_I	184	125	NM_005390	0	0	0	0	0	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																			A|0.998;C|0.002		0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			G	96762414	A	G	96762414	2	3	10	1	0	0	0	0	0	0	0	1	11704	204	8	4		4	PDHA2	4	96762414	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	5372988	96762414	94391862	106	2432											
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	110448529	110448529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccagtggtaagttcacTagcagatgtatatgcgggag	13	6	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:110448529T>C	ENST00000265175.5	+	18	3072	c.3017T>C	c.(3016-3018)cTa>cCa	p.L1006P	SEC24B_ENST00000504968.2_Missense_Mutation_p.L1036P|SEC24B_ENST00000399100.2_Missense_Mutation_p.L971P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1006					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)		GTAAGTTCACTAGCAGATGTA	0.368																																					p.L1006P		.											.	SEC24B-137	0			c.T3017C						.						147	135	138					4																	110448529		1867	4112	5979	SO:0001583	missense	10427	exon18			GTTCACTAGCAGA	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.3017T>C	4.37:g.110448529T>C	ENSP00000265175:p.Leu1006Pro	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	69	41	NM_006323	0	0	0	11	11	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070703	0.55539	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.29397	1.57;1.57;1.57	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.75777	2.31	0.80722	D	1	P;P;P;P;D	0.52996	0.483;0.934;0.792;0.868;0.957	B;P;B;B;P	0.45138	0.1;0.453;0.214;0.294;0.471	T	0.49283	-0.8956	10	0.87932	D	0	-16.743	16.1741	0.81840	0.0:0.0:0.0:1.0	.	920;605;1036;971;1006	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	P	1036;971;1006	ENSP00000428564:L1036P;ENSP00000382051:L971P;ENSP00000265175:L1006P	ENSP00000265175:L1006P	L	+	2	0	SEC24B	110667978	0.995000	0.38212	0.103000	0.21229	0.363000	0.29612	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	CTA	.		0.368	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			C	110448529	T	C	110448529	3	2	10	1	0	0	0	0	1	0	0	0	14040	1522	53	4	3087	4	SEC24B	4	110448529	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	13686115	110448529	80705747	107	2433											
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	111542464	111542464	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgctgccgcctttgccgcttCttcttagacgggtcctcggc	11	16	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:111542464C>G	ENST00000354925.2	-	6	1951	c.246G>C	c.(244-246)aaG>aaC	p.K82N	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000557119.2_Missense_Mutation_p.K89N|PITX2_ENST00000394598.2_Missense_Mutation_p.K82N|PITX2_ENST00000306732.3_Missense_Mutation_p.K89N|PITX2_ENST00000355080.5_Missense_Mutation_p.K36N|PITX2_ENST00000394595.3_Intron	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	82					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGCCGCTTCTTCTTAGACG	0.582																																					p.K89N		.											.	PITX2-650	0			c.G267C						.						74	74	74					4																	111542464		2203	4300	6503	SO:0001583	missense	5308	exon2			CCGCTTCTTCTTA	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.246G>C	4.37:g.111542464C>G	ENSP00000347004:p.Lys82Asn	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	50	23	NM_000325	0	0	0	1	1	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336664	0.60963	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.37	5.37	0.77165	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.49350	1.555	0.80722	D	1	P;B;D;P	0.76494	0.942;0.447;0.999;0.562	P;B;D;B	0.70227	0.764;0.16;0.968;0.236	D	0.95654	0.8709	10	0.42905	T	0.14	.	14.687	0.69057	0.0:0.9281:0.0:0.0719	.	82;36;82;89	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	N	89;82;36;82;82;36	ENSP00000304169:K89N;ENSP00000378097:K82N;ENSP00000347192:K36N;ENSP00000347004:K82N;ENSP00000421454:K82N;ENSP00000424142:K36N	ENSP00000304169:K89N	K	-	3	2	PITX2	111761913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.236000	0.51336	2.676000	0.91093	0.655000	0.94253	AAG	.		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			G	111542464	C	G	111542464	3	3	10	1	0	0	0	0	1	0	0	0	11994	912	32	3	715	3	PITX2	4	111542464	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1093935	111542464	79611812	108	2434											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	114163347	114163347	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttactggatcgaggcggtcaGatcgatgccaaaactagggt	13	8	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:114163347G>T	ENST00000357077.4	+	9	926	c.873G>T	c.(871-873)caG>caT	p.Q291H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q291H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q270H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q291H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	291					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)		GAGGCGGTCAGATCGATGCCA	0.433																																					p.Q291H		.											.	ANK2-583	0			c.G873T						.						194	175	181					4																	114163347		2203	4300	6503	SO:0001583	missense	287	exon9			CGGTCAGATCGAT	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.873G>T	4.37:g.114163347G>T	ENSP00000349588:p.Gln291His	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	142	73	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717781	0.68844	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;-0.12;-0.12;-0.12;-0.57;-0.12;-0.12	5.48	3.74	0.42951	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000132	T	0.76535	0.4001	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.995	D;D;D;D;D	0.91635	0.999;0.935;0.998;0.999;0.995	T	0.76113	-0.3078	10	0.66056	D	0.02	.	9.678	0.40052	0.2144:0.0:0.7856:0.0	.	291;291;291;270;270	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	270;270;270;306;291;291;291;270	ENSP00000423799:Q270H;ENSP00000421011:Q270H;ENSP00000421067:Q270H;ENSP00000424722:Q306H;ENSP00000378044:Q291H;ENSP00000349588:Q291H;ENSP00000264366:Q291H	ENSP00000264366:Q291H	Q	+	3	2	ANK2	114382796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.071000	0.57556	0.788000	0.33755	0.655000	0.94253	CAG	.		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114163347	G	T	114163347	3	4	10	1	0	0	0	0	1	0	0	0	621	933	33	3	932	3	ANK2	4	114163347	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2620883	114163347	76990929	109	2435											
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	123268929	123268929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgattcttcagttcctcGaagaggtaacactgctcttt	7	10	4	2	rs377061438		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:123268929G>A	ENST00000264501.4	+	76	13497	c.13124G>A	c.(13123-13125)cGa>cAa	p.R4375Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4375Q			Q2LD37	K1109_HUMAN	KIAA1109	4375					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.R4375Q(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						TCAGTTCCTCGAAGAGGTAAC	0.413																																					p.R4375Q		.											.	KIAA1109-80	1	Substitution - Missense(1)	lung(1)	c.G13124A						.	G	GLN/ARG	1,3841		0,1,1920	118	110	112		13124	1.9	1	4		112	0,8268		0,0,4134	no	missense	KIAA1109	NM_015312.3	43	0,1,6054	AA,AG,GG		0.0,0.026,0.0083	benign	4375/5006	123268929	1,12109	1921	4134	6055	SO:0001583	missense	84162	exon74			TTCCTCGAAGAGG	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.13124G>A	4.37:g.123268929G>A	ENSP00000264501:p.Arg4375Gln	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	165	103	NM_015312	0	0	0	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.264540|2.264540	0.39995|0.39995	2.6E-4|2.6E-4	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30714	.|2.46;2.46;1.52	6.01|6.01	1.91|1.91	0.25777|0.25777	.|.	.|0.196873	.|0.42294	.|N	.|0.000727	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.06409|0.06409	-1.0828|-1.0828	5|10	.|0.25751	.|T	.|0.34	.|.	10.053|10.053	0.42228|0.42228	0.3883:0.0:0.6117:0.0|0.3883:0.0:0.6117:0.0	.|.	.|4374;4375	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	K|Q	751|4375;4375;1044	.|ENSP00000264501:R4375Q;ENSP00000373390:R4375Q;ENSP00000410874:R1044Q	.|ENSP00000264501:R4375Q	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123488379|123488379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	3.134000|3.134000	0.50538|0.50538	0.449000|0.449000	0.26747|0.26747	-0.157000|-0.157000	0.13467|0.13467	GAA|CGA	.		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123268929	G	A	123268929	3	1	10	1	0	0	0	0	1	0	0	0	8235	1058	37	1	13418	1	KIAA1109	4	123268929	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9105582	123268929	67885347	110	2436											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126238731	126238731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacggacgcagattctcccGcggccaacgggaacatctcc	11	15	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:126238731G>T	ENST00000394329.3	+	1	1178	c.1165G>T	c.(1165-1167)Gcg>Tcg	p.A389S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATTCTCCCGCGGCCAACGG	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A389S		.											.	FAT4-108	0			c.G1165T						.						28	32	30					4																	126238731		2030	4174	6204	SO:0001583	missense	79633	exon1			TCTCCCGCGGCCA	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.1165G>T	4.37:g.126238731G>T	ENSP00000377862:p.Ala389Ser	Somatic	223	0	1548	WXS	Illumina GAIIx	Phase_I	275	157	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	6.041	0.375971	0.11409	.	.	ENSG00000196159	ENST00000394329	T	0.37235	1.21	4.69	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004253	T	0.29783	0.0744	N	0.05259	-0.085	0.80722	D	1	P	0.47962	0.903	P	0.53006	0.715	T	0.25293	-1.0136	10	0.59425	D	0.04	.	13.491	0.61395	0.0:0.0:0.7172:0.2828	.	389	Q6V0I7	FAT4_HUMAN	S	389	ENSP00000377862:A389S	ENSP00000377862:A389S	A	+	1	0	FAT4	126458181	0.994000	0.37717	0.747000	0.31113	0.062000	0.15995	2.595000	0.46197	0.557000	0.29117	-1.028000	0.02416	GCG	.		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126238731	G	T	126238731	3	4	10	1	0	0	0	0	1	0	0	0	5714	1087	38	2	1167	2	FAT4	4	126238731	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2969802	126238731	64915545	111	2437											
FSTL5	56884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	162954783	162954783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcatttcttacctttgaCtcttgaactttcttgatttt	3	9	4	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:162954783C>A	ENST00000306100.5	-	3	590	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	FSTL5_ENST00000379164.4_Missense_Mutation_p.V51F|RP11-497K21.1_ENST00000513093.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.V51F|FSTL5_ENST00000427802.2_Missense_Mutation_p.V51F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	52						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTACCTTTGACTCTTGAACTT	0.259																																					p.V52F		.											.	FSTL5-158	0			c.G154T						.						31	31	31					4																	162954783		2161	4244	6405	SO:0001583	missense	56884	exon3			CTTTGACTCTTGA	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.154G>T	4.37:g.162954783C>A	ENSP00000305334:p.Val52Phe	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	16	9	NM_020116	0	0	0	0	0	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683936	0.29872	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72835	-0.69;-0.66;-0.69;-0.66	4.99	2.28	0.28536	.	0.746340	0.12064	N	0.502832	T	0.43567	0.1253	N	0.03608	-0.345	0.25324	N	0.9891	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32375	-0.9909	10	0.54805	T	0.06	.	4.3344	0.11080	0.1738:0.097:0.0:0.7292	.	51;51;52	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	F	52;51;51;51	ENSP00000305334:V52F;ENSP00000368462:V51F;ENSP00000389270:V51F;ENSP00000440409:V51F	ENSP00000305334:V52F	V	-	1	0	FSTL5	163174233	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.433000	0.21477	0.296000	0.22592	-0.290000	0.09829	GTC	.		0.259	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		A	162954783	C	A	162954783	3	1	10	1	0	0	0	0	1	0	0	0	6104	565	20	3	2445	3	FSTL5	4	162954783	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	36716052	162954783	28199493	112	2438											
ACSL1	2180	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	185687098	185687098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtggcagacaccggggCggctcctgtcaccatcagcc	12	16	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:185687098C>A	ENST00000515030.1	-	14	1631	c.1306G>T	c.(1306-1308)Gcc>Tcc	p.A436S	ACSL1_ENST00000454703.2_Missense_Mutation_p.A265S|ACSL1_ENST00000507295.1_Missense_Mutation_p.A402S|ACSL1_ENST00000504342.1_Missense_Mutation_p.A436S|ACSL1_ENST00000437665.3_Missense_Mutation_p.A265S|ACSL1_ENST00000281455.2_Missense_Mutation_p.A436S|ACSL1_ENST00000513317.1_Missense_Mutation_p.A436S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	436					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACACCGGGGCGGCTCCTGTC	0.632																																					p.A436S		.											.	ACSL1-92	0			c.G1306T						.						67	67	67					4																	185687098		2203	4300	6503	SO:0001583	missense	2180	exon14			CCGGGGCGGCTCC	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1306G>T	4.37:g.185687098C>A	ENSP00000422607:p.Ala436Ser	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	155	89	NM_001995	0	0	0	0	0	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313587	0.60414	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.23	5.23	0.72850	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.64830	0.994;0.993;0.993;0.991	D;D;D;D	0.72075	0.964;0.976;0.976;0.971	T	0.48536	-0.9027	10	0.52906	T	0.07	-22.8981	19.1736	0.93590	0.0:1.0:0.0:0.0	.	402;436;436;436	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	S	265;436;42;436;402;265;436;436	ENSP00000407165:A265S;ENSP00000422607:A436S;ENSP00000425098:A42S;ENSP00000281455:A436S;ENSP00000426244:A402S;ENSP00000405687:A265S;ENSP00000425006:A436S;ENSP00000426150:A436S	ENSP00000281455:A436S	A	-	1	0	ACSL1	185924092	1.000000	0.71417	0.124000	0.21820	0.033000	0.12548	5.912000	0.69948	2.591000	0.87537	0.655000	0.94253	GCC	.		0.632	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		A	185687098	C	A	185687098	3	1	10	1	0	0	0	0	1	0	0	0	177	768	27	2	822	2	ACSL1	4	185687098	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	22732315	185687098	5467178	113	2439											
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	7802377	7802377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtctgcgtcatgtttgcctCcattccggatttcaaagaat	8	11	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:7802377C>T	ENST00000338316.4	+	21	2764	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ADCY2_ENST00000537121.1_Missense_Mutation_p.S712F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	892					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGTTTGCCTCCATTCCGGAT	0.468																																					p.S892F		.											.	ADCY2-97	0			c.C2675T						.						84	81	82					5																	7802377		2203	4300	6503	SO:0001583	missense	108	exon21			TTGCCTCCATTCC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2675C>T	5.37:g.7802377C>T	ENSP00000342952:p.Ser892Phe	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	126	42	NM_020546	0	0	0	0	0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964060	0.92791	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.31510	1.49;1.49	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82317	-0.0517	10	0.87932	D	0	.	18.8415	0.92186	0.0:1.0:0.0:0.0	.	712;892	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	892;45;725;712	ENSP00000342952:S892F;ENSP00000444803:S712F	ENSP00000342952:S892F	S	+	2	0	ADCY2	7855377	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.539000	0.82063	2.447000	0.82792	0.591000	0.81541	TCC	.		0.468	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7802377	C	T	7802377	3	4	10	1	0	0	0	0	1	0	0	0	294	855	30	3	2757	3	ADCY2	5	7802377	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		7802377	173112883	114	2440											
C5orf49	134121	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	7832052	7832052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcacatggttggcacGgccaaagtcccggtttaggg	14	11	0	0	rs202097565		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:7832052G>A	ENST00000399810.2	-	3	823	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	C5orf49_ENST00000509627.1_Missense_Mutation_p.R117C	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	119										large_intestine(3)|lung(5)|skin(1)	9						TGGTTGGCACGGCCAAAGTCC	0.567																																					p.R119C		.											.	C5orf49-22	0			c.C355T						.	G	CYS/ARG	0,4000		0,0,2000	142	147	145		355	3.7	0.1	5		145	1,8327		0,1,4163	yes	missense	C5orf49	NM_001089584.1	180	0,1,6163	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	119/148	7832052	1,12327	2000	4164	6164	SO:0001583	missense	134121	exon3			TGGCACGGCCAAA		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.355C>T	5.37:g.7832052G>A	ENSP00000382708:p.Arg119Cys	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	157	51	NM_001089584	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399810.2	37	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490738	0.26686	0.0	1.2E-4	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.46819	0.86;0.86	4.72	3.7	0.42460	.	.	.	.	.	T	0.60779	0.2295	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	P	0.60886	0.88	T	0.50759	-0.8790	9	0.87932	D	0	-1.7071	11.2542	0.49043	0.0:0.0:0.7713:0.2287	.	119	A4QMS7	CE049_HUMAN	C	119;117	ENSP00000382708:R119C;ENSP00000426019:R117C	ENSP00000382708:R119C	R	-	1	0	C5orf49	7885052	0.057000	0.20700	0.117000	0.21633	0.002000	0.02628	2.210000	0.42816	2.339000	0.79563	0.555000	0.69702	CGT	.		0.567	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		A	7832052	G	A	7832052	3	1	10	1	0	0	0	0	1	0	0	0	2314	1116	39	1	92	1	C5orf49	5	7832052	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	29675	7832052	173083208	115	2441											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	23527817	23527817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggctttagcgataggtcaAgcctctgctatcaccagagg	13	10	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:23527817A>T	ENST00000296682.3	+	11	2802	c.2620A>T	c.(2620-2622)Agc>Tgc	p.S874C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	874					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						CGATAGGTCAAGCCTCTGCTA	0.527										HNSCC(3;0.000094)																											p.S874C		.											.	PRDM9-139	0			c.A2620T						.						67	76	73					5																	23527817		2186	4294	6480	SO:0001583	missense	56979	exon11			AGGTCAAGCCTCT	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.2620A>T	5.37:g.23527817A>T	ENSP00000296682:p.Ser874Cys	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	284	115	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.795270	0.31777	.	.	ENSG00000164256	ENST00000296682	T	0.16073	2.37	2.05	-4.09	0.03951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24236	0.0587	L	0.42632	1.34	0.09310	N	1	D	0.58268	0.982	D	0.65140	0.932	T	0.22452	-1.0216	9	0.59425	D	0.04	.	5.2962	0.15754	0.4444:0.2856:0.2699:0.0	.	874	Q9NQV7	PRDM9_HUMAN	C	874	ENSP00000296682:S874C	ENSP00000296682:S874C	S	+	1	0	PRDM9	23563574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.126000	0.00024	-2.800000	0.00352	-1.887000	0.00540	AGC	.		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23527817	A	T	23527817	3	4	10	1	0	0	0	0	1	0	0	0	12505	72	3	5	2658	5	PRDM9	5	23527817	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	15695765	23527817	157387443	116	2442											
CDH9	1007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	26881656	26881657	+	Missense_Mutation	DNP	CC	CC	AA													ttgtaggtcacaatgttgtcCcggacatcgtcttttgaaat							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:26881656_26881657CC>AA	ENST00000231021.4	-	12	2130_2131	c.1958_1959GG>TT	c.(1957-1959)cGG>cTT	p.R653L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	653					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R653L(1)|p.R653R(1)		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						CAATGTTGTCCCGGACATCGTC	0.411																																					p.R653L	Melanoma(8;187 585 15745 40864 52829)	.											.	CDH9-99	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	c.G1958T						.																																			SO:0001583	missense	1007	exon12			TTGTCCCGGACAT	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.1958_1959delinsAA	5.37:g.26881656_26881657delinsAA	ENSP00000231021:p.Arg653Leu	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	45	1	NM_016279	0	0	0	0	0	Q3B7I5	Missense_Mutation	DNP	ENST00000231021.4	37	CCDS3893.1																																																																																			.		0.411	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		AA	26881657	CC	AA	26881656	3	1	10	1	0	0	0	0	1	0	0	0	3124	610	22	3	414	3	CDH9	5	26881656	Missense_Mutation	DNP	CC	TCGA-OR-A5JB-01A-11D-A29I-10	3353839	26881656	154033604	117	2443											
FYB	2533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	39118988	39118988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgacttacatttcccttcttCatttctgcagagaacttttg	5	10	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:39118988C>T	ENST00000351578.6	-	15	2441	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	FYB_ENST00000540520.1_Missense_Mutation_p.E807K|FYB_ENST00000512982.1_Missense_Mutation_p.E797K|FYB_ENST00000515010.1_Missense_Mutation_p.E751K|FYB_ENST00000505428.1_Missense_Mutation_p.E797K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	751					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCCCTTCTTCATTTCTGCAG	0.353																																					p.E807K		.											.	FYB-24	0			c.G2419A						.						180	163	169					5																	39118988		1827	4071	5898	SO:0001583	missense	2533	exon16			CTTCTTCATTTCT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2251G>A	5.37:g.39118988C>T	ENSP00000316460:p.Glu751Lys	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_001243093	0	0	0	0	0	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755038	0.49362	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	6.04	6.04	0.98038	Src homology-3 domain (1);	0.474875	0.25112	N	0.033045	T	0.26484	0.0647	L	0.58302	1.8	0.39616	D	0.969957	P;B	0.52316	0.952;0.349	B;B	0.41510	0.359;0.068	T	0.04065	-1.0980	10	0.21014	T	0.42	-6.0654	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	807;751	B4DLN2;O15117	.;FYB_HUMAN	K	751;751;797;797;807	ENSP00000316460:E751K;ENSP00000426346:E751K;ENSP00000425845:E797K;ENSP00000427114:E797K;ENSP00000442840:E807K	ENSP00000316460:E751K	E	-	1	0	FYB	39154745	0.977000	0.34250	0.996000	0.52242	0.989000	0.77384	2.508000	0.45450	2.873000	0.98535	0.563000	0.77884	GAA	.		0.353	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39118988	C	T	39118988	3	4	10	1	0	0	0	0	1	0	0	0	6148	835	29	3	116	3	FYB	5	39118988	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	12237332	39118988	141796272	118	2444											
ENC1	8507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	73930600	73930600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaatcagcgagtacgggaCagtggtgatgctgttccaca	14	8	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:73930600C>A	ENST00000302351.4	-	2	2841	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	ENC1_ENST00000510316.1_Missense_Mutation_p.V498F|ENC1_ENST00000537006.1_Missense_Mutation_p.V571F|ENC1_ENST00000509284.1_5'Flank	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	571				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	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)		GAGTACGGGACAGTGGTGATG	0.453																																					p.V571F		.											.	ENC1-228	0			c.G1711T						.						108	82	91					5																	73930600		2203	4300	6503	SO:0001583	missense	8507	exon2			ACGGGACAGTGGT	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.1711G>T	5.37:g.73930600C>A	ENSP00000306356:p.Val571Phe	Somatic	312	0		WXS	Illumina GAIIx	Phase_I	413	134	NM_003633	0	0	6	7	1	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372126	0.61624	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66815	-0.23;-0.23;-0.23	5.75	5.75	0.90469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	L	0.37561	1.115	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.77427	-0.2592	10	0.72032	D	0.01	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	571	O14682	ENC1_HUMAN	F	571;498;571	ENSP00000306356:V571F;ENSP00000423804:V498F;ENSP00000446289:V571F	ENSP00000306356:V571F	V	-	1	0	ENC1	73966356	1.000000	0.71417	0.956000	0.39512	0.786000	0.44442	4.977000	0.63792	2.714000	0.92807	0.561000	0.74099	GTC	.		0.453	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		A	73930600	C	A	73930600	3	1	10	1	0	0	0	0	1	0	0	0	5129	478	17	3	62	3	ENC1	5	73930600	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	34811612	73930600	106984660	119	2445											
COL4A3BP	10087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	74681788	74681788	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacttcatgtcctgtgacGcctttaactgcatgggtagc	10	11	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:74681788G>T	ENST00000405807.4	-	13	1777	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G	COL4A3BP_ENST00000508692.1_5'Flank|COL4A3BP_ENST00000380494.5_Silent_p.G580G|COL4A3BP_ENST00000261415.7_Silent_p.G426G	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	452	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTCCTGTGACGCCTTTAACTG	0.338																																					p.G580G		.											.	COL4A3BP-226	0			c.C1740A						.						68	62	64					5																	74681788		2202	4298	6500	SO:0001819	synonymous_variant	10087	exon14			TGTGACGCCTTTA	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1356C>A	5.37:g.74681788G>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	73	24	NM_001130105	0	0	0	0	0	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	CCDS4028.1																																																																																			.		0.338	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		T	74681788	G	T	74681788	2	4	10	1	0	0	0	0	0	0	0	1	3699	1074	38	2		2	COL4A3BP	5	74681788	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	751188	74681788	106233472	120	2446											
FAM81B	153643	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	94764306	94764306	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caatttccatcttgccattaGatgtgattcaagcattgtga	7	8	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:94764306G>C	ENST00000283357.5	+	6	702		c.e6-1			NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B							nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTGCCATTAGATGTGATTCA	0.403																																					.		.											.	FAM81B-92	0			c.657-1G>C						.						121	114	116					5																	94764306		1864	4095	5959	SO:0001630	splice_region_variant	153643	exon6			CCATTAGATGTGA		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.657-1G>C	5.37:g.94764306G>C		Somatic	161	2		WXS	Illumina GAIIx	Phase_I	199	85	NM_152548	0	0	0	0	0		Splice_Site	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681919	0.68042	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9772	0.92742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM81B	94790062	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.789000	0.69029	2.780000	0.95670	0.655000	0.94253	.	.		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	Intron	C	94764306	G	C	94764306	5	2	10	1	0	0	0	0	0	0	1	0	5651	956	33	3	678	3	FAM81B	5	94764306	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	20082518	94764306	86150954	121	2447											
SLCO4C1	353189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	9	11	1	1	rs374536178		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		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)		GCTAGGGACCGTTGTCTGTGA	0.338																																					p.R611W		.											.	SLCO4C1-93	0			c.C1831T						.	G	TRP/ARG	0,4406		0,0,2203	131	140	137		1831	6	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189	exon11			GGGACCGTTGTCT	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.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	179	66	NM_180991	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG	.		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101576467	G	A	101576467	3	1	10	1	0	0	0	0	1	0	0	0	14775	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6812161	101576467	79338793	122	2448											
IL3	3562	bcgsc.ca	37	chr5	131396478	131396478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccatgacccagacaacgCccttgaagacaagctgggtt	9	14	0	4	rs40401	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:131396478C>T	ENST00000296870.2	+	1	257	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	27			P -> S (in dbSNP:rs40401). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2544122, ECO:0000269|Ref.4}.		cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCAGACAACGCCCTTGAAGAC	0.537													T|||	2101	0.419529	0.5703	0.3156	5008	,	,		21475	0.5714		0.2515	False		,,,				2504	0.3057				p.P27S		.											.	IL3-92	0			c.C79T						.	T	SER/PRO	2268,2138	578.4+/-384.7	588,1092,523	100	97	98		79	1.2	0	5	dbSNP_76	98	1951,6649	725.2+/-406.5	226,1499,2575	yes	missense	IL3	NM_000588.3	74	814,2591,3098	TT,TC,CC		22.686,48.5247,32.4389	benign	27/153	131396478	4219,8787	2203	4300	6503	SO:0001583	missense	3562	exon1			ACAACGCCCTTGA	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.79C>T	5.37:g.131396478C>T	ENSP00000296870:p.Pro27Ser	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	251	9	NM_000588	0	0	0	0	0	Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	CCDS4149.1	911	0.41712454212454214	291	0.5914634146341463	100	0.27624309392265195	319	0.5576923076923077	201	0.26517150395778366	T	0.343	-0.949559	0.02304	0.514753	0.22686	ENSG00000164399	ENST00000296870	T	0.26373	1.74	3.24	1.18	0.20946	.	1.255760	0.05782	N	0.608778	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.18968	0.032	B	0.20577	0.03	T	0.43766	-0.9371	9	0.07644	T	0.81	-2.5392	6.6006	0.22699	0.0:0.6449:0.2355:0.1196	rs40401;rs657709;rs3181636;rs52803049;rs59548569;rs40401	27	P08700	IL3_HUMAN	S	27	ENSP00000296870:P27S	ENSP00000296870:P27S	P	+	1	0	IL3	131424377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.640000	0.00108	0.009000	0.14813	-0.834000	0.03071	CCC	C|0.616;N|0.000		0.537	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		T	131396478	C	T	131396478	3	4	10	1	0	0	0	0	1	0	0	0	7716	739	26	3	81	3	IL3	5	131396478	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	29820011	131396478	49518782	123	2449											
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140595249	140595249	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgttcgccctcaggtcTctggactacgaggccctgca	10	16	2	0	rs144959109	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:140595249T>G	ENST00000341948.4	+	1	1741	c.1554T>G	c.(1552-1554)tcT>tcG	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692													T|||	6	0.00119808	0.003	0.0014	5008	,	,		16445	0.001		0	False		,,,				2504	0				p.S518S		.											.	PCDHB13-93	1	Substitution - coding silent(1)	kidney(1)	c.T1554G						.	T		9,4397		0,9,2194	89	96	93		1554	-6.8	0	5	dbSNP_134	93	8,8592		0,8,4292	no	coding-synonymous	PCDHB13	NM_018933.2		0,17,6486	GG,GT,TT		0.093,0.2043,0.1307		518/799	140595249	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			CAGGTCTCTGGAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1554T>G	5.37:g.140595249T>G		Somatic	172	2		WXS	Illumina GAIIx	Phase_I	548	214	NM_018933	0	0	0	2	2	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			T|0.999;G|0.001		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		G	140595249	T	G	140595249	2	3	10	1	0	0	0	0	0	0	0	1	11577	1538	54	5		5	PCDHB13	5	140595249	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	9198771	140595249	40320011	124	2450											
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140723866	140723866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggtcaccgcggagaGgatagaccgggaggagctct	16	10	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:140723866G>T	ENST00000253812.6	+	1	266	c.266G>T	c.(265-267)aGg>aTg	p.R89M	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	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGAGAGGATAGACCGG	0.527																																					p.R89M		.											.	PCDHGA3-68	0			c.G266T						.						45	53	50					5																	140723866		2159	4287	6446	SO:0001583	missense	56112	exon1			CGGAGAGGATAGA	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.266G>T	5.37:g.140723866G>T	ENSP00000253812:p.Arg89Met	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	116	42	NM_032011	0	0	0	0	0	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925668	0.52759	.	.	ENSG00000254245	ENST00000253812	T	0.35789	1.29	5.65	2.89	0.33648	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36409	U	0.002611	T	0.70842	0.3270	H	0.97983	4.12	0.26468	N	0.97533	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.98	T	0.67879	-0.5556	10	0.87932	D	0	.	10.8076	0.46527	0.2087:0.0:0.7913:0.0	.	89;89	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	89	ENSP00000253812:R89M	ENSP00000253812:R89M	R	+	2	0	PCDHGA3	140704050	0.999000	0.42202	0.941000	0.38009	0.745000	0.42441	3.318000	0.51975	0.860000	0.35481	-0.150000	0.13652	AGG	.		0.527	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140723866	G	T	140723866	3	4	10	1	0	0	0	0	1	0	0	0	11594	1000	35	3	268	3	PCDHGA3	5	140723866	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	128617	140723866	40191394	125	2451											
FAT2	2196	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	150946780	150946780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtcttggcggatagaCcctgtacagttgacttcttc	11	11	2	2	rs35225143	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:150946780C>A	ENST00000261800.5	-	1	1725	c.1713G>T	c.(1711-1713)ggG>ggT	p.G571G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	571	Cadherin 5. {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)			GGCGGATAGACCCTGTACAGT	0.463													C|||	105	0.0209665	0.0023	0.049	5008	,	,		20087	0		0.0606	False		,,,				2504	0.0072				p.G571G		.											.	FAT2-96	0			c.G1713T						.	C		85,4321	70.3+/-108.2	3,79,2121	73	78	76		1713	0.1	0.1	5	dbSNP_126	76	674,7926	167.5+/-219.3	32,610,3658	no	coding-synonymous	FAT2	NM_001447.2		35,689,5779	AA,AC,CC		7.8372,1.9292,5.8358		571/4350	150946780	759,12247	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			GATAGACCCTGTA	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.1713G>T	5.37:g.150946780C>A		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	178	55	NM_001447	0	0	0	0	0	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			C|0.948;A|0.052		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150946780	C	A	150946780	2	1	10	1	0	0	0	0	0	0	0	1	5712	494	18	3		3	FAT2	5	150946780	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	10222914	150946780	29968480	126	2452											
GLRA1	2741	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	151231112	151231112	+	Frame_Shift_Del	DEL	A	A	-													aatatacatctgaatcaggtAgtaacccatctgccgctcca							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:151231112delA	ENST00000455880.2	-	7	1037	c.751delT	c.(751-753)tacfs	p.Y251fs	GLRA1_ENST00000545569.1_Frame_Shift_Del_p.Y168fs|GLRA1_ENST00000274576.4_Frame_Shift_Del_p.Y251fs|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	251					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAATCAGGTAGTAACCCATC	0.517																																					p.Y251fs		.											.	GLRA1-91	0			c.751delT						.						129	119	122					5																	151231112		2203	4300	6503	SO:0001589	frameshift_variant	2741	exon7			TCAGGTAGTAACC		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.751delT	5.37:g.151231112delA	ENSP00000411593:p.Tyr251fs	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	313	130	NM_000171	0	0	0	0	0	B2R6T3|Q14C77|Q6DJV9	Frame_Shift_Del	DEL	ENST00000455880.2	37	CCDS54942.1																																																																																			.		0.517	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			-	151231112	A	-	151231112	7	5	10	1	0	1	0	1	0	0	0	0	6480	420	15	0	634	0	GLRA1	5	151231112	Frame_Shift_Del	DEL	A	TCGA-OR-A5JB-01A-11D-A29I-10	284332	151231112	29684148	127	2453											
HAVCR1	26762	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	156482398	156482398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgacgtgggttccatTggtccagacaatgccatttt	11	8	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:156482398T>C	ENST00000339252.3	-	2	725	c.193A>G	c.(193-195)Aat>Gat	p.N65D	HAVCR1_ENST00000522693.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000523175.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000425854.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000544197.1_Missense_Mutation_p.N65D	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGTTCCATTGGTCCAGACA	0.478																																					p.N65D		.											.	HAVCR1-92	0			c.A193G						.						94	84	87					5																	156482398		2001	4190	6191	SO:0001583	missense	26762	exon3			TTCCATTGGTCCA	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.193A>G	5.37:g.156482398T>C	ENSP00000344844:p.Asn65Asp	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	235	95	NM_001099414	0	0	0	0	0	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	T	2.976	-0.211468	0.06140	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.58	-3.24	0.05094	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.399659	0.26065	N	0.026560	T	0.17746	0.0426	N	0.14661	0.345	0.21355	N	0.999716	B;B	0.17465	0.022;0.022	B;B	0.20384	0.029;0.029	T	0.29150	-1.0021	10	0.09843	T	0.71	-18.5919	7.2736	0.26271	0.0:0.3845:0.1122:0.5033	.	65;65	F1CME6;Q96D42	.;HAVR1_HUMAN	D	65	ENSP00000428524:N65D;ENSP00000427898:N65D;ENSP00000344844:N65D;ENSP00000403333:N65D;ENSP00000440258:N65D;ENSP00000428422:N65D	ENSP00000344844:N65D	N	-	1	0	HAVCR1	156414976	0.003000	0.15002	0.000000	0.03702	0.036000	0.12997	-0.112000	0.10791	-1.164000	0.02790	-0.248000	0.11899	AAT	.		0.478	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			C	156482398	T	C	156482398	3	2	10	1	0	0	0	0	1	0	0	0	7000	1812	63	4	929	4	HAVCR1	5	156482398	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	5251286	156482398	24432862	128	2454											
CDHR2	54825	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176016115	176016115	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctctaaggacggggccacCatccctttccagggtgtctt	10	13	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:176016115C>A	ENST00000510636.1	+	22	3214	c.2940C>A	c.(2938-2940)acC>acA	p.T980T	CDHR2_ENST00000506348.1_Silent_p.T980T|CDHR2_ENST00000261944.5_Silent_p.T980T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	980	Cadherin 9. {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						ACGGGGCCACCATCCCTTTCC	0.592																																					p.T980T		.											.	CDHR2-70	0			c.C2940A						.						223	215	218					5																	176016115		2203	4300	6503	SO:0001819	synonymous_variant	54825	exon22			GGCCACCATCCCT	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.2940C>A	5.37:g.176016115C>A		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	191	62	NM_017675	0	0	0	2	2	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			.		0.592	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176016115	C	A	176016115	2	1	10	1	0	0	0	0	0	0	0	1	3126	581	21	3		3	CDHR2	5	176016115	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	19533717	176016115	4899145	129	2455											
HK3	3101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176314086	176314086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggccctgcttctgctGgaagtccacgatgcagtcca	11	14	2	0	rs534008020	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:176314086G>T	ENST00000292432.5	-	13	1865	c.1774C>A	c.(1774-1776)Cag>Aag	p.Q592K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	592	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCTGCTGGAAGTCCACG	0.602																																					p.Q592K		.											.	HK3-294	0			c.C1774A						.						84	76	79					5																	176314086		2203	4300	6503	SO:0001583	missense	3101	exon13			TCTGCTGGAAGTC		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1774C>A	5.37:g.176314086G>T	ENSP00000292432:p.Gln592Lys	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	266	98	NM_002115	0	0	2	2	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508996	0.85282	.	.	ENSG00000160883	ENST00000292432	D	0.98207	-4.79	5.01	5.01	0.66863	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000096	D	0.97390	0.9146	N	0.24115	0.695	0.37950	D	0.932619	D	0.63046	0.992	D	0.63793	0.918	D	0.99421	1.0933	10	0.87932	D	0	-16.4269	13.2907	0.60269	0.0:0.0:0.8415:0.1585	.	592	P52790	HXK3_HUMAN	K	592	ENSP00000292432:Q592K	ENSP00000292432:Q592K	Q	-	1	0	HK3	176246692	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.028000	0.57246	2.325000	0.78763	0.561000	0.74099	CAG	.		0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176314086	G	T	176314086	3	4	10	1	0	0	0	0	1	0	0	0	7219	1357	47	3	1025	3	HK3	5	176314086	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	297971	176314086	4601174	130	2456											
GRM6	2916	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	178413936	178413936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggaagatgtcgtaccgcCcgggcgcatctccgttctcg	12	14	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:178413936C>A	ENST00000517717.1	-	8	1441	c.1403G>T	c.(1402-1404)gGg>gTg	p.G468V	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.G468V			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	468					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)		GTCGTACCGCCCGGGCGCATC	0.637																																					p.G468V		.											.	GRM6-588	0			c.G1403T						.						78	64	68					5																	178413936		2203	4300	6503	SO:0001583	missense	2916	exon7			TACCGCCCGGGCG	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.1403G>T	5.37:g.178413936C>A	ENSP00000430767:p.Gly468Val	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	168	67	NM_000843	0	0	0	0	0		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556148	0.65425	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83075	-1.68;-1.68	4.74	4.74	0.60224	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.93367	0.7885	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.91635	0.999;0.734	D	0.95123	0.8248	9	0.87932	D	0	.	15.5896	0.76517	0.0:1.0:0.0:0.0	.	596;468	E7EX65;O15303	.;GRM6_HUMAN	V	596;468;468	ENSP00000231188:G468V;ENSP00000430767:G468V	ENSP00000231188:G468V	G	-	2	0	GRM6	178346542	1.000000	0.71417	0.733000	0.30861	0.423000	0.31445	7.652000	0.83633	2.339000	0.79563	0.462000	0.41574	GGG	.		0.637	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			A	178413936	C	A	178413936	3	1	10	1	0	0	0	0	1	0	0	0	6828	623	22	3	1246	3	GRM6	5	178413936	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2099850	178413936	2501324	131	2457											
ALDH5A1	7915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	24523089	24523089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaagaacctgcgcgTaggtaatggatttgaggaag	14	5	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:24523089T>C	ENST00000357578.3	+	7	1254	c.1109T>C	c.(1108-1110)gTa>gCa	p.V370A	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.V383A|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.V342A|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.V282A	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	370					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AACCTGCGCGTAGGTAATGGA	0.408																																					p.V383A		.											.	ALDH5A1-90	0			c.T1148C						.						127	128	128					6																	24523089		2203	4300	6503	SO:0001583	missense	7915	exon8			TGCGCGTAGGTAA	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1109T>C	6.37:g.24523089T>C	ENSP00000350191:p.Val370Ala	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	111	35	NM_170740	0	0	3	6	3	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551663	0.65311	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.2	5.2	0.72013	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.210963	0.43260	D	0.000584	D	0.83303	0.5225	M	0.72118	2.19	0.54753	D	0.99998	P;P	0.45902	0.868;0.84	P;P	0.54026	0.74;0.622	D	0.85786	0.1364	10	0.72032	D	0.01	-7.0977	15.526	0.75905	0.0:0.0:0.0:1.0	.	370;383	P51649;G5E949	SSDH_HUMAN;.	A	370;282;342;383	ENSP00000350191:V370A;ENSP00000438193:V282A;ENSP00000417687:V342A;ENSP00000314649:V383A	ENSP00000314649:V383A	V	+	2	0	ALDH5A1	24631068	0.999000	0.42202	0.344000	0.25628	0.391000	0.30476	5.868000	0.69605	2.308000	0.77769	0.533000	0.62120	GTA	.		0.408	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			C	24523089	T	C	24523089	3	2	10	1	0	0	0	0	1	0	0	0	502	1638	57	4	1178	4	ALDH5A1	6	24523089	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10		24523089	146591978	132	2458											
HIST1H2BA	255626	bcgsc.ca	37	chr6	25727448	25727448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagtgcgcttgctactGccgggagagctggctaaaca	13	11	0	1	rs16890972	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:25727448G>A	ENST00000274764.2	+	1	312	c.312G>A	c.(310-312)ctG>ctA	p.L104L	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	104					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						GCTTGCTACTGCCGGGAGAGC	0.517													G|||	149	0.0297524	0.0953	0.0259	5008	,	,		18131	0		0.005	False		,,,				2504	0				p.L104L		.											.	HIST1H2BA-204	0			c.G312A						.	G		389,4017	195.0+/-219.7	21,347,1835	273	198	223		312	-1.6	0	6	dbSNP_123	223	68,8532	41.7+/-99.0	1,66,4233	no	coding-synonymous	HIST1H2BA	NM_170610.2		22,413,6068	AA,AG,GG		0.7907,8.8289,3.5138		104/128	25727448	457,12549	2203	4300	6503	SO:0001819	synonymous_variant	255626	exon1			GCTACTGCCGGGA	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"Histones / Replication-dependent"	18730	protein-coding gene	gene with protein product		609904	"H2B histone family, member U, (testis-specific)", "histone 1, H2ba"			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.312G>A	6.37:g.25727448G>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	152	6	NM_170610	0	0	0	0	0	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Silent	SNP	ENST00000274764.2	37	CCDS4563.1																																																																																			G|0.965;A|0.035		0.517	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		A	25727448	G	A	25727448	2	1	10	1	0	0	0	0	0	0	0	1	7167	1306	46	3		3	HIST1H2BA	6	25727448	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1204359	25727448	145387619	133	2459											
HIST1H3A	8350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26020915	26020915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcttattcgtaaactAcctttccagcgcctggtgcg	9	12	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:26020915A>G	ENST00000357647.3	+	1	198	c.198A>G	c.(196-198)ctA>ctG	p.L66L	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	66					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCGTAAACTACCTTTCCAGC	0.607																																					p.L66L		.											.	HIST1H3A-92	0			c.A198G						.						46	51	49					6																	26020915		2203	4300	6503	SO:0001819	synonymous_variant	8350	exon1			TAAACTACCTTTC	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"Histones / Replication-dependent"	4766	protein-coding gene	gene with protein product		602810	"H3 histone family, member A", "histone 1, H3a"	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.198A>G	6.37:g.26020915A>G		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	148	56	NM_003529	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000357647.3	37	CCDS4570.1																																																																																			.		0.607	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		G	26020915	A	G	26020915	2	3	10	1	0	0	0	0	0	0	0	1	7182	378	14	4		4	HIST1H3A	6	26020915	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	293467	26020915	145094152	134	2460											
HIST1H3F	8968	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	26250440	26250440	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacttatgccctctctccgcGaatgcggcgagcgagctgga	12	13	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:26250440G>C	ENST00000446824.2	-	1	395	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	132					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						CTCTCTCCGCGAATGCGGCGA	0.542											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R132G		.											.	HIST1H3F-68	0			c.C394G						.						78	76	77					6																	26250440		2203	4300	6503	SO:0001583	missense	8968	exon1			CTCCGCGAATGCG	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.394C>G	6.37:g.26250440G>C	ENSP00000444823:p.Arg132Gly	Somatic	152	1	785	WXS	Illumina GAIIx	Phase_I	216	82	NM_021018	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	18.10	3.549140	0.65311	.	.	ENSG00000256316	ENST00000446824	T	0.70045	-0.45	4.82	4.82	0.62117	.	.	.	.	.	T	0.76090	0.3939	.	.	.	0.45777	D	0.998663	.	.	.	.	.	.	T	0.79291	-0.1864	6	0.87932	D	0	.	17.7536	0.88442	0.0:0.0:1.0:0.0	.	.	.	.	G	132	ENSP00000444823:R132G	ENSP00000444823:R132G	R	-	1	0	HIST1H3F	26358419	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.828000	0.86729	2.602000	0.87976	0.561000	0.74099	CGC	.		0.542	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		C	26250440	G	C	26250440	3	2	10	1	0	0	0	0	1	0	0	0	7187	1058	37	2	20	2	HIST1H3F	6	26250440	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	229525	26250440	144864627	135	2461											
HIST1H2BN	8341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27806779	27806779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccaagcacgcggtgtcgGagggcaccaaggccgtcacc	15	14	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:27806779G>A	ENST00000396980.3	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.E114K	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						CGCGGTGTCGGAGGGCACCAA	0.647																																					p.E114K		.											.	HIST1H2BN-68	0			c.G340A						.						49	52	51					6																	27806779		2203	4299	6502	SO:0001583	missense	8341	exon1			GTGTCGGAGGGCA	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.340G>A	6.37:g.27806779G>A	ENSP00000380177:p.Glu114Lys	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	211	74	NM_003520	0	0	0	5	5	B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491310	0.44249	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.48201	0.82;0.82	4.71	3.83	0.44106	Histone-fold (2);	0.000000	0.43919	U	0.000520	T	0.33381	0.0861	M	0.78801	2.425	0.29106	N	0.881189	B;B	0.24675	0.001;0.109	B;B	0.22753	0.003;0.041	T	0.31052	-0.9957	10	0.52906	T	0.07	.	12.1725	0.54167	0.0854:0.0:0.9146:0.0	.	114;114	Q99877;B2R4S9	H2B1N_HUMAN;.	K	114	ENSP00000446031:E114K;ENSP00000380177:E114K	ENSP00000380177:E114K	E	+	1	0	HIST1H2BN	27914758	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.496000	0.73670	2.537000	0.85549	0.650000	0.86243	GAG	.		0.647	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		A	27806779	G	A	27806779	3	1	10	1	0	0	0	0	1	0	0	0	7180	1175	41	3	342	3	HIST1H2BN	6	27806779	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1556339	27806779	143308288	136	2462											
ZKSCAN3	80317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	28331530	28331530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaatggacacagcaggattCatctcaggggaatctctgta	11	8	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:28331530C>T	ENST00000377255.3	+	6	992	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.S84L|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.S232L	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	232	KRAB.				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						CAGCAGGATTCATCTCAGGGG	0.478																																					p.S232L		.											.	ZKSCAN3-92	0			c.C695T						.						85	79	81					6																	28331530		2203	4300	6503	SO:0001583	missense	80317	exon5			AGGATTCATCTCA	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.695C>T	6.37:g.28331530C>T	ENSP00000366465:p.Ser232Leu	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	190	63	NM_024493	0	0	0	1	1	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.114408	0.56505	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.01745	4.66;4.66;4.66	2.98	2.98	0.34508	Krueppel-associated box (3);	.	.	.	.	T	0.02083	0.0065	L	0.37630	1.12	0.22620	N	0.998926	D	0.89917	1.0	D	0.87578	0.998	T	0.55328	-0.8158	9	0.15952	T	0.53	.	13.8021	0.63206	0.0:1.0:0.0:0.0	.	232	Q9BRR0	ZKSC3_HUMAN	L	232;84;232	ENSP00000252211:S232L;ENSP00000341883:S84L;ENSP00000366465:S232L	ENSP00000252211:S232L	S	+	2	0	ZKSCAN3	28439509	0.000000	0.05858	0.885000	0.34714	0.970000	0.65996	0.612000	0.24283	1.950000	0.56595	0.563000	0.77884	TCA	.		0.478	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		T	28331530	C	T	28331530	3	4	10	1	0	0	0	0	1	0	0	0	17736	838	29	3	709	3	ZKSCAN3	6	28331530	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	524751	28331530	142783537	137	2463											
HLA-F	3134	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	29692009	29692009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgacggacgcctcctcCgcgggtatcaccagcacgcg	13	18	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:29692009C>T	ENST00000376861.1	+	4	778	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	HLA-F_ENST00000334668.4_Missense_Mutation_p.R132C|HLA-F_ENST00000440587.2_Missense_Mutation_p.R14C|HLA-F_ENST00000434407.2_Missense_Mutation_p.R132C|HLA-F_ENST00000259951.7_Missense_Mutation_p.R132C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	132	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	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						ACGCCTCCTCCGCGGGTATCA	0.677																																					p.R132C		.											.	HLA-F-22	0			c.C394T						.						77	81	80					6																	29692009		1509	2708	4217	SO:0001583	missense	3134	exon3			CTCCTCCGCGGGT	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.394C>T	6.37:g.29692009C>T	ENSP00000366057:p.Arg132Cys	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	237	81	NM_001098478	0	0	285	420	135	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	16.48	3.134932	0.56828	.	.	ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	T;T;T;T;T	0.00014	9.22;9.22;9.22;9.22;9.22	1.63	0.441	0.16577	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.842331	0.09387	U	0.809113	T	0.00300	0.0009	H	0.99935	4.985	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.972;0.953;0.99	T	0.51293	-0.8724	10	0.87932	D	0	.	4.3356	0.11085	0.3897:0.6103:0.0:0.0	.	132;132;132;132	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	C	132;109;132;132;14;132	ENSP00000366057:R132C;ENSP00000334263:R132C;ENSP00000259951:R132C;ENSP00000404130:R14C;ENSP00000397376:R132C	ENSP00000259951:R132C	R	+	1	0	HLA-F	29799988	0.000000	0.05858	0.428000	0.26697	0.318000	0.28184	-0.869000	0.04232	0.871000	0.35750	0.436000	0.28706	CGC	.		0.677	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		T	29692009	C	T	29692009	3	4	10	1	0	0	0	0	1	0	0	0	7238	652	23	1	404	1	HLA-F	6	29692009	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1360479	29692009	141423058	138	2464											
BAT2	7916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31590581	31590581	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaatgtccgatcgctcGgggccgactgccaagggaaa	14	12	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:31590581G>T	ENST00000376033.2	+	2	249	c.15G>T	c.(13-15)tcG>tcT	p.S5S	PRRC2A_ENST00000376007.4_Silent_p.S5S|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	5						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						CCGATCGCTCGGGGCCGACTG	0.552																																					p.S5S		.											.	PRRC2A-156	0			c.G15T						.						197	203	201					6																	31590581		2203	4300	6503	SO:0001819	synonymous_variant	7916	exon2			TCGCTCGGGGCCG	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.15G>T	6.37:g.31590581G>T		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	132	48	NM_004638	0	0	1	2	1	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																			.		0.552	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31590581	G	T	31590581	2	4	10	1	0	0	0	0	0	0	0	1	1320	1103	39	2		2	BAT2	6	31590581	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1898572	31590581	139524486	139	2465											
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32017977	32017977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctcgggaaccatccaGgacaggctgagggagtcggg	17	11	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:32017977G>A	ENST00000375244.3	-	27	9438	c.9237C>T	c.(9235-9237)tcC>tcT	p.S3079S	TNXB_ENST00000375247.2_Silent_p.S3077S			P22105	TENX_HUMAN	tenascin XB	3124	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACCATCCAGGACAGGCTGA	0.672																																					p.S3077S		.											.	TNXB-90	0			c.C9231T						.						83	91	88					6																	32017977		1248	2539	3787	SO:0001819	synonymous_variant	7148	exon27			CATCCAGGACAGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9237C>T	6.37:g.32017977G>A		Somatic	219	0		WXS	Illumina GAIIx	Phase_I	309	103	NM_019105	0	0	0	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				.		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32017977	G	A	32017977	2	1	10	1	0	0	0	0	0	0	0	1	16393	987	35	3		3	TNXB	6	32017977	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	427396	32017977	139097090	140	2466											
HLA-DQA1	3117	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	32610520	32610520	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttcagttggtgcttcCagacaccaagggccattgtg	12	11	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:32610520C>A	ENST00000343139.5	+	4	849	c.747C>A	c.(745-747)tcC>tcA	p.S249S	HLA-DQA1_ENST00000395363.1_Silent_p.S249S|HLA-DQA1_ENST00000374949.2_Silent_p.S249S	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	248					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						TTGGTGCTTCCAGACACCAAG	0.542																																					p.S249S		.											.	HLA-DQA1-90	0			c.C747A						.						131	105	114					6																	32610520		1509	2706	4215	SO:0001819	synonymous_variant	3117	exon4			TGCTTCCAGACAC		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.747C>A	6.37:g.32610520C>A		Somatic	179	1		WXS	Illumina GAIIx	Phase_I	341	140	NM_002122	0	0	57	57	0	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	CCDS4752.1																																																																																			.		0.542	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		A	32610520	C	A	32610520	2	1	10	1	0	0	0	0	0	0	0	1	7231	581	21	3		3	HLA-DQA1	6	32610520	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	592543	32610520	138504547	141	2467											
UHRF1BP1	54887	broad.mit.edu;bcgsc.ca	37	chr6	34838842	34838842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggatgaggagatcccGgtggtagtccccatgcagat	15	8	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:34838842G>A	ENST00000192788.5	+	18	4101	c.3930G>A	c.(3928-3930)ccG>ccA	p.P1310P	UHRF1BP1_ENST00000452449.2_Silent_p.P1310P	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1310							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						AGGAGATCCCGGTGGTAGTCC	0.502																																					p.P1310P		.											.	UHRF1BP1-93	0			c.G3930A						.						78	75	76					6																	34838842		1987	4154	6141	SO:0001819	synonymous_variant	54887	exon18			GATCCCGGTGGTA	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.3930G>A	6.37:g.34838842G>A		Somatic	83	1		WXS	Illumina GAIIx	Phase_I	107	45	NM_017754	0	0	1	1	0	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																			.		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34838842	G	A	34838842	2	1	10	1	0	0	0	0	0	0	0	1	17017	1103	39	1		1	UHRF1BP1	6	34838842	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2228322	34838842	136276225	142	2468											
KCTD20	222658	bcgsc.ca	37	chr6	36446975	36446975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgagattgctgaaggcatcaGtgcaactgtatttcgcacag	11	8	1	2	rs2239808	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:36446975G>C	ENST00000373731.2	+	4	903	c.512G>C	c.(511-513)aGt>aCt	p.S171T	KCTD20_ENST00000536244.1_Missense_Mutation_p.S26T|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	171	BTB.		S -> T (in dbSNP:rs2239808). {ECO:0000269|PubMed:14702039}.		protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GAAGGCATCAGTGCAACTGTA	0.453													G|||	1554	0.310304	0.4576	0.219	5008	,	,		21392	0.378		0.2227	False		,,,				2504	0.1963				p.S171T		.											.	KCTD20-92	0			c.G512C						.	G	THR/SER	1812,2594	531.1+/-373.1	365,1082,756	204	151	169		512	5.3	1	6	dbSNP_98	169	1655,6945	305.6+/-307.5	149,1357,2794	yes	missense	KCTD20	NM_173562.3	58	514,2439,3550	CC,CG,GG		19.2442,41.1257,26.6569	possibly-damaging	171/420	36446975	3467,9539	2203	4300	6503	SO:0001583	missense	222658	exon4			GCATCAGTGCAAC	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.512G>C	6.37:g.36446975G>C	ENSP00000362836:p.Ser171Thr	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	281	7	NM_173562	0	0	5	5	0	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	694	0.31776556776556775	241	0.4898373983739837	67	0.1850828729281768	222	0.3881118881118881	164	0.21635883905013192	G	32	5.117970	0.94385	0.411257	0.192442	ENSG00000112078	ENST00000373731;ENST00000536244	T;D	0.94723	0.83;-3.5	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.199717	0.47093	D	0.000257	D	0.97071	0.9043	M	0.83852	2.665	0.09310	P	1.0	D	0.71674	0.998	D	0.67103	0.949	D	0.96551	0.9408	9	0.52906	T	0.07	-21.5181	19.1338	0.93418	0.0:0.0:1.0:0.0	rs2239808;rs52792836;rs57808269;rs2239808	171	Q7Z5Y7	KCD20_HUMAN	T	171;26	ENSP00000362836:S171T;ENSP00000439118:S26T	ENSP00000362836:S171T	S	+	2	0	KCTD20	36554953	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	AGT	G|0.619;C|0.381		0.453	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		C	36446975	G	C	36446975	3	2	10	1	0	0	0	0	1	0	0	0	8135	1029	36	3	522	3	KCTD20	6	36446975	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1608133	36446975	134668092	143	2469											
GUCA1B	2979	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42156332	42156332	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acactaacctccacaatgttGagtagctccaggcggtcgat	9	12	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:42156332G>C	ENST00000230361.3	-	2	440	c.345C>G	c.(343-345)ctC>ctG	p.L115L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|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)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCACAATGTTGAGTAGCTCCA	0.567																																					p.L115L		.											.	GUCA1B-92	0			c.C345G						.						121	91	101					6																	42156332		2203	4300	6503	SO:0001819	synonymous_variant	2979	exon2			AATGTTGAGTAGC	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.345C>G	6.37:g.42156332G>C		Somatic	79	1		WXS	Illumina GAIIx	Phase_I	117	43	NM_002098	0	0	0	0	0	Q9NU15	Silent	SNP	ENST00000230361.3	37	CCDS4865.1																																																																																			.		0.567	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		C	42156332	G	C	42156332	2	2	10	1	0	0	0	0	0	0	0	1	6916	1277	45	3		3	GUCA1B	6	42156332	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5709357	42156332	128958735	144	2470											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_000287	0	0	0	4	4	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	10	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	790158	42946490	128168577	145	2471											
SLC25A27	9481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46623682	46623682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatctgccccctatagggGaatggtgcgcacagctctag	12	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:46623682G>A	ENST00000371347.5	+	2	461	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.G70E	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	70					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)			CCCTATAGGGGAATGGTGCGC	0.498																																					p.G70E		.											.	SLC25A27-90	0			c.G209A						.						114	117	116					6																	46623682		1897	4114	6011	SO:0001583	missense	9481	exon2			ATAGGGGAATGGT	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.209G>A	6.37:g.46623682G>A	ENSP00000360398:p.Gly70Glu	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	156	72	NM_001204051	0	0	0	0	0	F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751965	0.89753	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.94449	0.7665	10	0.87932	D	0	-8.9794	16.9173	0.86154	0.0:0.0:1.0:0.0	.	70;70	O95847;F5GWR4	UCP4_HUMAN;.	E	70	ENSP00000360398:G70E;ENSP00000412024:G70E	ENSP00000360398:G70E	G	+	2	0	SLC25A27	46731641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	2.564000	0.86499	0.650000	0.86243	GGA	.		0.498	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		A	46623682	G	A	46623682	3	1	10	1	0	0	0	0	1	0	0	0	14535	1174	41	3	215	3	SLC25A27	6	46623682	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3677192	46623682	124491385	146	2472											
CRISP1	167	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49806196	49806196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggcttcacatgggacGcctgtcttataaggttcatt	12	9	3	0	rs35289289	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:49806196G>A	ENST00000335847.4	-	7	677	c.576C>T	c.(574-576)ggC>ggT	p.G192G	CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000505118.1_Silent_p.G192G|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Silent_p.G192G|CRISP1_ENST00000507853.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	192					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CACATGGGACGCCTGTCTTAT	0.363													G|||	191	0.038139	0.1339	0.0144	5008	,	,		17019	0		0.004	False		,,,				2504	0				p.G192G		.											.	CRISP1-90	0			c.C576T						.	G	,,	565,3841	254.6+/-260.1	26,513,1664	179	170	173		576,576,	-3.7	0	6	dbSNP_126	173	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,intron	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	,,	26,521,5956	AA,AG,GG		0.093,12.8234,4.4057	,,	192/250,192/250,	49806196	573,12433	2203	4300	6503	SO:0001819	synonymous_variant	167	exon7			TGGGACGCCTGTC	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.576C>T	6.37:g.49806196G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	58	24	NM_001205220	0	0	0	0	0	B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	CCDS4931.1																																																																																			G|0.960;A|0.040		0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		A	49806196	G	A	49806196	2	1	10	1	0	0	0	0	0	0	0	1	3886	1074	38	1		1	CRISP1	6	49806196	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3182514	49806196	121308871	147	2473											
PKHD1	5314	bcgsc.ca	37	chr6	51512887	51512887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgtccatggctctgaAggaggtcccagggactctac	12	10	2	1	rs17667728	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:51512887A>G	ENST00000371117.3	-	63	11615	c.11340T>C	c.(11338-11340)ccT>ccC	p.P3780P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3780					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)					ATGGCTCTGAAGGAGGTCCCA	0.413													A|||	156	0.0311502	0.0522	0.0317	5008	,	,		17729	0		0.0408	False		,,,				2504	0.0245				p.P3780P		.											.	PKHD1-603	0			c.T11340C						.	A		192,4214	118.8+/-156.5	2,188,2013	114	116	115		11340	-4.3	0.1	6	dbSNP_123	115	361,8239	119.4+/-178.7	10,341,3949	no	coding-synonymous	PKHD1	NM_138694.3		12,529,5962	GG,GA,AA		4.1977,4.3577,4.2519		3780/4075	51512887	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	5314	exon63			CTCTGAAGGAGGT	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.11340T>C	6.37:g.51512887A>G		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	97	4	NM_138694	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			A|0.960;G|0.040		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51512887	A	G	51512887	2	3	10	1	0	0	0	0	0	0	0	1	12010	59	3	4		4	PKHD1	6	51512887	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	1706691	51512887	119602180	148	2474											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51920477	51920477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaacctgccacagaAgggctccgtcccactggtga	13	13	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:51920477A>G	ENST00000371117.3	-	19	2019	c.1744T>C	c.(1744-1746)Ttc>Ctc	p.F582L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F582L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	582					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)					CTGCCACAGAAGGGCTCCGTC	0.527																																					p.F582L		.											.	PKHD1-603	0			c.T1744C						.						60	59	59					6																	51920477		2203	4300	6503	SO:0001583	missense	5314	exon19			CACAGAAGGGCTC	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.1744T>C	6.37:g.51920477A>G	ENSP00000360158:p.Phe582Leu	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	139	49	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497051	0.85069	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86769	-2.17;-2.17	5.53	5.53	0.82687	.	0.162313	0.44285	D	0.000470	D	0.89086	0.6615	M	0.66939	2.045	0.32574	N	0.529336	D;D	0.67145	0.986;0.996	P;P	0.61070	0.84;0.883	D	0.89765	0.3950	10	0.72032	D	0.01	.	13.6944	0.62569	1.0:0.0:0.0:0.0	.	582;582	P08F94-2;P08F94	.;PKHD1_HUMAN	L	582	ENSP00000360158:F582L;ENSP00000341097:F582L	ENSP00000341097:F582L	F	-	1	0	PKHD1	52028436	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.733000	0.68571	2.235000	0.73313	0.533000	0.62120	TTC	.		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51920477	A	G	51920477	3	3	10	1	0	0	0	0	1	0	0	0	12010	72	3	4	10715	4	PKHD1	6	51920477	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	407590	51920477	119194590	149	2475											
IL17A	3605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	52052591	52052591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaaccgatccacctcacCttggaatctccagtacgtaa	5	15	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:52052591C>T	ENST00000340057.1	+	2	263	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	73					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TCCACCTCACCTTGGAATCTC	0.433																																					p.P73L		.											.	IL17A-90	0			c.C218T						.						125	114	117					6																	52052591		2203	4300	6503	SO:0001583	missense	3605	exon2			CCTCACCTTGGAA	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"Interleukins and interleukin receptors"	5981	protein-coding gene	gene with protein product	"cytotoxic T-lymphocyte-associated protein 8"	603149	"interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.218C>T	6.37:g.52052591C>T	ENSP00000344192:p.Pro73Leu	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	161	44	NM_002190	0	0	0	0	0	Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486974	0.84854	.	.	ENSG00000112115	ENST00000340057	D	0.83250	-1.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93785	0.7087	10	0.87932	D	0	-19.1344	16.994	0.86361	0.0:1.0:0.0:0.0	.	73	Q16552	IL17_HUMAN	L	73	ENSP00000344192:P73L	ENSP00000344192:P73L	P	+	2	0	IL17A	52160550	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	4.713000	0.61895	2.692000	0.91855	0.650000	0.86243	CCT	.		0.433	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		T	52052591	C	T	52052591	3	4	10	1	0	0	0	0	1	0	0	0	7661	681	24	3	224	3	IL17A	6	52052591	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	132114	52052591	119062476	150	2476											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56336950	56336950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcaccagtaagtttacCctaggatttttggtttcaat	7	8	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:56336950C>A	ENST00000361203.3	-	89	21112	c.21105G>T	c.(21103-21105)agG>agT	p.R7035S	DST_ENST00000370769.4_Missense_Mutation_p.R7146S|DST_ENST00000244364.6_Missense_Mutation_p.R4732S|DST_ENST00000370788.2_Missense_Mutation_p.R4949S|DST_ENST00000370754.5_Missense_Mutation_p.R7324S|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6820S|DST_ENST00000421834.2_Missense_Mutation_p.R5058S			Q03001	DYST_HUMAN	dystonin	7144					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)			GTAAGTTTACCCTAGGATTTT	0.468																																					p.R4732S		.											.	DST-523	0			c.G14196T						.						155	138	144					6																	56336950		1908	4136	6044	SO:0001583	missense	667	exon75			GTTTACCCTAGGA	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.21105G>T	6.37:g.56336950C>A	ENSP00000354508:p.Arg7035Ser	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	235	84	NM_015548	0	0	11	32	21	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	16.45	3.126742	0.56721	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000523943	T;T;T;T;T;T;T;T	0.64085	0.51;1.2;1.2;-0.08;1.2;1.2;1.2;0.51	5.87	4.08	0.47627	.	0.098089	0.43919	D	0.000515	T	0.70307	0.3209	M	0.86343	2.81	0.33670	D	0.610864	B;D;D;P;P	0.56521	0.255;0.976;0.976;0.546;0.712	B;P;P;B;P	0.59424	0.057;0.857;0.857;0.115;0.642	T	0.76953	-0.2768	9	0.62326	D	0.03	.	10.5629	0.45156	0.0:0.7979:0.0:0.2021	.	5058;7146;7324;7144;4732	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	4732;7324;7146;5058;6820;4949;7035;63	ENSP00000244364:R4732S;ENSP00000359790:R7324S;ENSP00000359805:R7146S;ENSP00000400883:R5058S;ENSP00000393645:R6820S;ENSP00000359824:R4949S;ENSP00000354508:R7035S;ENSP00000430472:R63S	ENSP00000244364:R4732S	R	-	3	2	DST	56444909	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	0.816000	0.27267	1.627000	0.50400	0.655000	0.94253	AGG	.		0.468	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56336950	C	A	56336950	3	1	10	1	0	0	0	0	1	0	0	0	4797	622	22	3	1359	3	DST	6	56336950	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4284359	56336950	114778117	151	2477											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	10	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	42946426	99283376	71831691	152	2478											
KPNA5	3841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	117013269	117013269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaatgatgaatctatgcttGaaagtcctatacaggatcca	8	7	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:117013269G>C	ENST00000368564.1	+	3	338	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	KPNA5_ENST00000356348.1_Missense_Mutation_p.E64Q			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	61					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)		ATCTATGCTTGAAAGTCCTAT	0.323																																					p.E64Q		.											.	KPNA5-290	0			c.G190C						.						100	100	100					6																	117013269		2203	4298	6501	SO:0001583	missense	3841	exon3			ATGCTTGAAAGTC	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.190G>C	6.37:g.117013269G>C	ENSP00000357552:p.Glu64Gln	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	76	42	NM_002269	0	0	0	2	2	B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192902	0.58017	.	.	ENSG00000196911	ENST00000368564;ENST00000413340;ENST00000356348	T;T;T	0.32023	1.47;1.47;1.47	6.0	6.0	0.97389	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.35487	1.065	0.54753	D	0.99998	P	0.34699	0.464	B	0.42692	0.395	T	0.02713	-1.1120	10	0.30078	T	0.28	.	20.4716	0.99163	0.0:0.0:1.0:0.0	.	61	O15131	IMA5_HUMAN	Q	64;61;64	ENSP00000357552:E64Q;ENSP00000396791:E61Q;ENSP00000348704:E64Q	ENSP00000348704:E64Q	E	+	1	0	KPNA5	117119962	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	9.348000	0.97062	2.844000	0.97970	0.591000	0.81541	GAA	.		0.323	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		C	117013269	G	C	117013269	3	2	10	1	0	0	0	0	1	0	0	0	8460	1291	45	3	200	3	KPNA5	6	117013269	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	17729893	117013269	54101798	153	2479											
C6orf97	80129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	151936589	151936589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttctagattaaaactttGgaacagactaaagccattga	6	7	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:151936589G>T	ENST00000239374.7	+	10	1821	c.1722G>T	c.(1720-1722)ttG>ttT	p.L574F	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.L581F	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	574																	TTAAAACTTTGGAACAGACTA	0.353																																					p.L574F		.											.	.	0			c.G1722T						.						126	125	125					6																	151936589		1832	4083	5915	SO:0001583	missense	80129	exon10			AACTTTGGAACAG	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.1722G>T	6.37:g.151936589G>T	ENSP00000239374:p.Leu574Phe	Somatic	82	1		WXS	Illumina GAIIx	Phase_I	47	18	NM_025059	0	0	0	0	0	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776344	0.70107	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.77489	2.86;-1.1	5.86	3.98	0.46160	.	0.068329	0.51477	D	0.000086	T	0.80649	0.4663	M	0.77820	2.39	0.48040	D	0.999576	D	0.76494	0.999	D	0.69824	0.966	T	0.79815	-0.1644	10	0.33940	T	0.23	-7.7822	8.1161	0.30944	0.1372:0.1302:0.7327:0.0	.	574	Q8IYT3	CF097_HUMAN	F	574;581	ENSP00000239374:L574F;ENSP00000356259:L581F	ENSP00000239374:L574F	L	+	3	2	C6orf97	151978282	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.061000	0.41403	1.623000	0.50342	0.650000	0.86243	TTG	.		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		T	151936589	G	T	151936589	3	4	10	1	0	0	0	0	1	0	0	0	2381	1339	47	3	1760	3	C6orf97	6	151936589	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	34923320	151936589	19178478	154	2480											
SYNE1	23345	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	152763327	152763327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccctgctgcgcctgCgcgatctgctgctgcacatc	9	18	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:152763327C>A	ENST00000367255.5	-	31	4492	c.3891G>T	c.(3889-3891)gcG>gcT	p.A1297A	SYNE1_ENST00000341594.5_Silent_p.A1363A|SYNE1_ENST00000367253.4_Silent_p.A1297A|SYNE1_ENST00000423061.1_Silent_p.A1304A|SYNE1_ENST00000448038.1_Silent_p.A1304A|SYNE1_ENST00000265368.4_Silent_p.A1297A|SYNE1_ENST00000413186.2_Silent_p.A1297A|SYNE1_ENST00000367248.3_Silent_p.A1287A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					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)		GCTGCGCCTGCGCGATCTGCT	0.562										HNSCC(10;0.0054)																											p.A1304A		.											.	SYNE1-607	0			c.G3912T						.						79	70	73					6																	152763327		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon31			CGCCTGCGCGATC	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.3891G>T	6.37:g.152763327C>A		Somatic	43	1		WXS	Illumina GAIIx	Phase_I	57	39	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152763327	C	A	152763327	2	1	10	1	0	0	0	0	0	0	0	1	15492	755	27	2		2	SYNE1	6	152763327	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	826738	152763327	18351740	155	2481											
WTAP	9589	ucsc.edu;bcgsc.ca	37	chr6	160169397	160169397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcctggaagtttacgcctGataggtaaacaaatcatact	9	8	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:160169397G>A	ENST00000358372.4	+	6	2205	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.D150N	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	150					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTTTACGCCTGATAGGTAAAC	0.448																																					p.D150N		.											.	WTAP-90	0			c.G448A						.						78	74	75					6																	160169397		2203	4300	6503	SO:0001583	missense	9589	exon6			ACGCCTGATAGGT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.448G>A	6.37:g.160169397G>A	ENSP00000351141:p.Asp150Asn	Somatic	236	3		WXS	Illumina GAIIx	Phase_I	176	88	NM_001270533	0	0	5	13	8	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435474	0.83885	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.56103	0.48;0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.70275	2.135	0.80722	D	1	P;P	0.45715	0.865;0.617	B;P	0.47075	0.421;0.536	T	0.62315	-0.6880	10	0.87932	D	0	-4.1678	19.6107	0.95606	0.0:0.0:1.0:0.0	.	150;150	Q15007;Q5TCL9	FL2D_HUMAN;.	N	150	ENSP00000351141:D150N;ENSP00000336911:D150N	ENSP00000336911:D150N	D	+	1	0	WTAP	160089387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.774000	0.98992	2.648000	0.89879	0.655000	0.94253	GAT	.		0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		A	160169397	G	A	160169397	3	1	10	1	0	0	0	0	1	0	0	0	17458	1290	45	3	466	3	WTAP	6	160169397	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	7406070	160169397	10945670	156	2482											
RPS6KA2	6196	bcgsc.ca	37	chr6	166862233	166862233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggcatactcggtgtcTgtggctttatgcacacatcg	10	11	2	0	rs2230730	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:166862233T>C	ENST00000265678.4	-	14	1534	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	RPS6KA2_ENST00000503859.1_Silent_p.T445T|RPS6KA2_ENST00000405189.3_Silent_p.T348T|RPS6KA2_ENST00000481261.2_Silent_p.T348T|RPS6KA2_ENST00000510118.1_Silent_p.T462T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	437	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACTCGGTGTCTGTGGCTTTAT	0.582													C|||	996	0.198882	0.1876	0.2723	5008	,	,		24814	0.0764		0.3082	False		,,,				2504	0.1759				p.T445T		.											.	RPS6KA2-1405	0			c.A1335G						.	C	,	931,3475	736.1+/-410.7	99,733,1371	238	158	185		1335,1311	-8.8	0.6	6	dbSNP_120	185	2587,6013	688.1+/-404.3	387,1813,2100	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	486,2546,3471	CC,CT,TT		30.0814,21.1303,27.0491	,	445/742,437/734	166862233	3518,9488	2203	4300	6503	SO:0001819	synonymous_variant	6196	exon15			GGTGTCTGTGGCT	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1311A>G	6.37:g.166862233T>C		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	167	6	NM_001006932	0	0	0	0	0	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			T|0.761;C|0.239;A|0.000		0.582	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		C	166862233	T	C	166862233	2	2	10	1	0	0	0	0	0	0	0	1	13696	1567	55	4		4	RPS6KA2	6	166862233	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	6692836	166862233	4252834	157	2483											
PMS2	5395	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	6022454	6022454	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaacactaaacacactcaCgctatgagcctctgcccctg	6	15	2	2	rs267608172		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:6022454C>T	ENST00000265849.7	-	12	2280		c.e12+1		PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AACACACTCACGCTATGAGCC	0.517			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												.		.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2-1083	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.2174+1G>A	GRCh37	CS083966	PMS2	S		.						20	21	21					7																	6022454		2200	4295	6495	SO:0001630	splice_region_variant	5395	exon13	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CACTCACGCTATG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2174+1G>A	7.37:g.6022454C>T		Somatic	506	1		WXS	Illumina GAIIx	Phase_I	624	157	NM_000535	0	0	0	1	1	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	-	16.11	3.030109	0.54790	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.058	0.89368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	5988980	1.000000	0.71417	0.015000	0.15790	0.005000	0.04900	7.772000	0.85439	2.347000	0.79759	0.555000	0.69702	.	.		0.517	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron	T	6022454	C	T	6022454	5	4	10	1	0	0	0	0	0	0	1	0	12182	550	19	1	429	1	PMS2	7	6022454	Splice_Site	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		6022454	153116209	158	2484											
ETV1	2115	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	13971174	13971174	+	Frame_Shift_Del	DEL	G	G	-													cctgtttaatcatcagaggaGggggaaagctttggctggcc							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971174delG	ENST00000430479.1	-	9	1422	c.755delC	c.(754-756)cctfs	p.P253fs	ETV1_ENST00000405218.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000242066.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000399357.3_Frame_Shift_Del_p.P150fs|ETV1_ENST00000403527.1_Frame_Shift_Del_p.P213fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.P267fs|ETV1_ENST00000420159.2_Frame_Shift_Del_p.P195fs|ETV1_ENST00000403685.1_Frame_Shift_Del_p.P235fs|ETV1_ENST00000405192.2_Frame_Shift_Del_p.P253fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	253				Missing (in Ref. 2; CAA60642). {ECO:0000305}.	axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATCAGAGGAGGGGGAAAGCT	0.507			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																p.P252fs		.		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	.	ETV1-659	0			c.755delC						.						97	97	97					7																	13971174		1951	4137	6088	SO:0001589	frameshift_variant	2115	exon9			AGAGGAGGGGGAA		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.755delC	7.37:g.13971174delG	ENSP00000405327:p.Pro253fs	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	176	58	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Del	DEL	ENST00000430479.1	37	CCDS55088.1																																																																																			.		0.507	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		-	13971174	G	-	13971174	7	5	10	1	0	1	0	1	0	0	0	0	5293	1000	35	0	702	0	ETV1	7	13971174	Frame_Shift_Del	DEL	G	TCGA-OR-A5JB-01A-11D-A29I-10	7948720	13971174	145167489	159	2485	18	3									
ETV1	2115	hgsc.bcm.edu	37	chr7	13971176	13971177	+	Frame_Shift_Del	DEL	GG	GG	-													tgtttaatcatcagaggaggGggaaagctttggctggccgc							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971176_13971177delGG	ENST00000430479.1	-	9	1419_1420	c.752_753delCC	c.(751-753)cccfs	p.P253fs	ETV1_ENST00000405218.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000242066.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000399357.3_Frame_Shift_Del_p.P150fs|ETV1_ENST00000403527.1_Frame_Shift_Del_p.P213fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.P267fs|ETV1_ENST00000420159.2_Frame_Shift_Del_p.P195fs|ETV1_ENST00000403685.1_Frame_Shift_Del_p.P235fs|ETV1_ENST00000405192.2_Frame_Shift_Del_p.P253fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	253				Missing (in Ref. 2; CAA60642). {ECO:0000305}.	axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCAGAGGAGGGGGAAAGCTTTG	0.51			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																p.251_251del		.		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	.	ETV1-659	0			c.752_753del						.																																			SO:0001589	frameshift_variant	2115	exon9			AGGAGGGGGAAAG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.752_753delCC	7.37:g.13971176_13971177delGG	ENSP00000405327:p.Pro253fs	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	178	0	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Del	DEL	ENST00000430479.1	37	CCDS55088.1																																																																																			.		0.51	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		-	13971177	GG	-	13971176	7	5	10	1	0	1	0	1	0	0	0	0	5293	1219	43	0	704	0	ETV1	7	13971176	Frame_Shift_Del	DEL	GG	TCGA-OR-A5JB-01A-11D-A29I-10	2	13971176	145167487	160	2486	18	3									
ETV1	2115	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr7	13971177	13971177	+	Missense_Mutation	SNP	G	G	A													gtttaatcatcagaggagggGgaaagctttggctggccgca							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971177G>A	ENST00000430479.1	-	9	1419	c.752C>T	c.(751-753)cCc>cTc	p.P251L	ETV1_ENST00000405218.2_Missense_Mutation_p.P251L|ETV1_ENST00000242066.5_Missense_Mutation_p.P233L|ETV1_ENST00000399357.3_Missense_Mutation_p.P148L|ETV1_ENST00000403527.1_Missense_Mutation_p.P211L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Missense_Mutation_p.P233L|ETV1_ENST00000405358.4_Missense_Mutation_p.P265L|ETV1_ENST00000420159.2_Missense_Mutation_p.P193L|ETV1_ENST00000403685.1_Missense_Mutation_p.P233L|ETV1_ENST00000405192.2_Missense_Mutation_p.P251L	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	251					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGAGGAGGGGGAAAGCTTTG	0.512			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																p.P251L		.		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	.	ETV1-659	0			c.C752T						.						100	100	100					7																	13971177		1959	4140	6099	SO:0001583	missense	2115	exon9			GGAGGGGGAAAGC		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.752C>T	7.37:g.13971177G>A	ENSP00000405327:p.Pro251Leu	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	178	59	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414961	0.96092	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.099819	0.64402	D	0.000001	T	0.48333	0.1494	M	0.67397	2.05	0.80722	D	1	P;B;P;P;P;D;P;B	0.89917	0.669;0.321;0.896;0.873;0.786;1.0;0.849;0.242	B;B;P;P;P;D;B;B	0.87578	0.266;0.205;0.654;0.523;0.731;0.998;0.338;0.232	T	0.08806	-1.0704	10	0.38643	T	0.18	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	262;233;265;193;148;211;193;251	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	L	251;233;233;193;148;251;265;211;251;233;193;148	ENSP00000405327:P251L;ENSP00000242066:P233L;ENSP00000340853:P233L;ENSP00000411626:P193L;ENSP00000382293:P148L;ENSP00000385381:P251L;ENSP00000384085:P265L;ENSP00000384138:P211L;ENSP00000385551:P251L;ENSP00000385686:P233L;ENSP00000393078:P193L;ENSP00000394710:P148L	ENSP00000242066:P233L	P	-	2	0	ETV1	13937702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCC	.		0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		A	13971177	G	A	13971177	3	1	10	1	0	0	0	0	1	0	0	0	5293	1232	43	3	705	3	ETV1	7	13971177	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1	13971177	145167486	161	2487	18	3									
FERD3L	222894	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	19184760	19184760	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgctcctcttcctcctcctCttctccgtccccctggtcca	5	22	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:19184760C>A	ENST00000275461.3	-	1	284	c.226G>T	c.(226-228)Gag>Tag	p.E76*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	76	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						tcctcctcctcttctccgtcc	0.632																																					p.E76X		.											.	FERD3L-153	0			c.G226T						.						68	48	54					7																	19184760		2203	4300	6503	SO:0001587	stop_gained	222894	exon1			CCTCCTCTTCTCC	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.226G>T	7.37:g.19184760C>A	ENSP00000275461:p.Glu76*	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	65	22	NM_152898	0	0	0	0	0	Q495K0	Nonsense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200461	0.79015	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.66	5.66	0.87406	.	0.735628	0.13201	N	0.405992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-5.8619	17.9316	0.88999	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000275461:E76X	E	-	1	0	FERD3L	19151285	0.902000	0.30710	0.790000	0.31976	0.748000	0.42578	3.048000	0.49862	2.693000	0.91896	0.650000	0.86243	GAG	.		0.632	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			A	19184760	C	A	19184760	4	1	10	1	0	0	0	0	0	1	0	0	5838	922	32	3	278	3	FERD3L	7	19184760	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5213583	19184760	139953903	162	2488											
CDK13	8621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	40085455	40085455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcattttatctggtgtttGaatatatggaccatgatctg	10	5	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:40085455G>A	ENST00000181839.4	+	6	2979	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CDK13_ENST00000340829.5_Missense_Mutation_p.E792K|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	792	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCTGGTGTTTGAATATATGGA	0.323																																					p.E792K		.											.	CDK13-548	0			c.G2374A						.						117	121	120					7																	40085455		2203	4300	6503	SO:0001583	missense	8621	exon6			GTGTTTGAATATA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2374G>A	7.37:g.40085455G>A	ENSP00000181839:p.Glu792Lys	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	53	21	NM_003718	0	0	5	9	4	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144934	0.94603	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.63913	-0.07;-0.07	4.71	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81978	0.4937	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.995;0.994;1.0	D;D;D	0.91635	0.968;0.915;0.999	D	0.85257	0.1048	8	.	.	.	-16.0713	16.0278	0.80555	0.0:0.0:1.0:0.0	.	178;792;792	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	K	792	ENSP00000181839:E792K;ENSP00000340557:E792K	.	E	+	1	0	CDK13	40051980	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.657000	0.98554	2.440000	0.82611	0.650000	0.86243	GAA	.		0.323	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		A	40085455	G	A	40085455	3	1	10	1	0	0	0	0	1	0	0	0	3136	1291	45	3	2396	3	CDK13	7	40085455	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	20900695	40085455	119053208	163	2489											
SUN3	256979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	48068434	48068434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcgcatcaggattttcGtcctctgataacaaagcatt	6	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:48068434G>A	ENST00000297325.4	-	1	261	c.102C>T	c.(100-102)gaC>gaT	p.D34D	SUN3_ENST00000453192.2_De_novo_Start_OutOfFrame|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_Silent_p.D34D	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	34						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGATTTTCGTCCTCTGATA	0.458																																					p.D34D		.											.	SUN3-514	0			c.C102T						.						218	191	200					7																	48068434		2203	4300	6503	SO:0001819	synonymous_variant	256979	exon2			ATTTTCGTCCTCT	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.102C>T	7.37:g.48068434G>A		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	218	18	NM_152782	0	0	0	0	0	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1																																																																																			.		0.458	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		A	48068434	G	A	48068434	2	1	10	1	0	0	0	0	0	0	0	1	15440	1136	40	1		1	SUN3	7	48068434	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	7982979	48068434	111070229	164	2490											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	48314045	48314045	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgtaaacagtgtaggCaattccatttatcacttagc	8	7	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:48314045C>G	ENST00000435803.1	+	17	4806	c.4782C>G	c.(4780-4782)ggC>ggG	p.G1594G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1594					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						ACAGTGTAGGCAATTCCATTT	0.323																																					p.G1594G		.											.	ABCA13-521	0			c.C4782G						.						140	140	140					7																	48314045		1844	4086	5930	SO:0001819	synonymous_variant	154664	exon17			TGTAGGCAATTCC	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.4782C>G	7.37:g.48314045C>G		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	69	28	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48314045	C	G	48314045	2	3	10	1	0	0	0	0	0	0	0	1	31	697	25	3		3	ABCA13	7	48314045	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	245611	48314045	110824618	165	2491											
IKZF1	10320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	50444361	50444361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgaatggctcccacagGgaccaaggcagctcggcttt	11	11	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:50444361G>T	ENST00000331340.3	+	4	446	c.291G>T	c.(289-291)agG>agT	p.R97S	IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.R97S|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.R97S|IKZF1_ENST00000440768.2_Missense_Mutation_p.R97S|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.R97S|IKZF1_ENST00000439701.1_Missense_Mutation_p.R97S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	97					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTCCCACAGGGACCAAGGCA	0.502			"D,T"	BCL6	"ALL, DLBCL"																																p.R97S		.		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1-1242	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)	c.G291T						.						94	100	98					7																	50444361		1942	4133	6075	SO:0001583	missense	10320	exon4			CCACAGGGACCAA	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.291G>T	7.37:g.50444361G>T	ENSP00000331614:p.Arg97Ser	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	197	80	NM_006060	0	0	0	0	0	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37		.	.	.	.	.	.	.	.	.	.	G	5.916	0.353057	0.11182	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.06294	3.43;3.32;4.51;3.51;3.41;3.43	4.45	2.33	0.28932	.	0.621024	0.17431	N	0.174465	T	0.02929	0.0087	.	.	.	0.29826	N	0.83046	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43393	-0.9394	9	0.10902	T	0.67	-5.1939	5.1725	0.15118	0.0:0.2018:0.2599:0.5383	.	97;97	Q13422-7;Q13422	.;IKZF1_HUMAN	S	97	ENSP00000352123:R97S;ENSP00000401507:R97S;ENSP00000342485:R97S;ENSP00000349928:R97S;ENSP00000331614:R97S;ENSP00000413025:R97S	ENSP00000331614:R97S	R	+	3	2	IKZF1	50411855	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.474000	0.35398	0.340000	0.23745	0.313000	0.20887	AGG	.		0.502	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50444361	G	T	50444361	3	4	10	1	0	0	0	0	1	0	0	0	7641	1223	43	3	301	3	IKZF1	7	50444361	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2130316	50444361	108694302	166	2492											
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	82784132	82784132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgacactcagtgcatgTgttaaaattggccttttctg	10	7	2	1	rs374237630		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:82784132T>A	ENST00000333891.9	-	2	2162	c.1825A>T	c.(1825-1827)Aca>Tca	p.T609S	PCLO_ENST00000423517.2_Missense_Mutation_p.T609S	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						TCAGTGCATGTGTTAAAATTG	0.428																																					p.T609S		.											.	PCLO-29	0			c.A1825T						.						207	198	201					7																	82784132		1955	4155	6110	SO:0001583	missense	27445	exon2			TGCATGTGTTAAA	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.1825A>T	7.37:g.82784132T>A	ENSP00000334319:p.Thr609Ser	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	272	90	NM_014510	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798356	0.31777	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.77229	-1.08;-1.08	5.6	4.38	0.52667	.	.	.	.	.	T	0.70064	0.3181	L	0.41356	1.27	0.80722	D	1	B;B	0.25007	0.069;0.116	B;B	0.26969	0.028;0.075	T	0.71185	-0.4667	9	0.87932	D	0	.	11.5735	0.50848	0.1336:0.0:0.0:0.8664	.	609;609	Q9Y6V0-5;Q9Y6V0-6	.;.	S	555;609;609	ENSP00000334319:T609S;ENSP00000388393:T609S	ENSP00000334319:T609S	T	-	1	0	PCLO	82622068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.772000	0.62324	2.140000	0.66376	0.528000	0.53228	ACA	.		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82784132	T	A	82784132	3	1	10	1	0	0	0	0	1	0	0	0	11622	1696	59	5	13716	5	PCLO	7	82784132	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	32339771	82784132	76354531	167	2493											
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	84685101	84685101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccttcttgagatgattcacGaaagaagaaatatattttat	7	5	2	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:84685101G>T	ENST00000284136.6	-	7	836	c.793C>A	c.(793-795)Cgt>Agt	p.R265S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.R265S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	265	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						GATGATTCACGAAAGAAGAAA	0.318																																					p.R265S	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C793A						.						69	69	69					7																	84685101		2202	4299	6501	SO:0001583	missense	223117	exon7			ATTCACGAAAGAA	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.793C>A	7.37:g.84685101G>T	ENSP00000284136:p.Arg265Ser	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	26	12	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484656	0.84854	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.12569	2.67;2.67	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099426	0.64402	N	0.000001	T	0.36026	0.0952	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.945	T	0.01468	-1.1347	10	0.40728	T	0.16	.	18.1716	0.89747	0.0:0.0:1.0:0.0	.	265;265	C9JYT6;O95025	.;SEM3D_HUMAN	S	265	ENSP00000284136:R265S;ENSP00000401366:R265S	ENSP00000284136:R265S	R	-	1	0	SEMA3D	84523037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.533000	0.85409	0.655000	0.94253	CGT	.		0.318	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84685101	G	T	84685101	3	4	10	1	0	0	0	0	1	0	0	0	14072	1058	37	2	1584	2	SEMA3D	7	84685101	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1900969	84685101	74453562	168	2494											
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	87178755	87178755	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttggggttgcgaaccAgggcacgtgcaatggcgatc	16	9	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:87178755A>T	ENST00000265724.3	-	15	2051	c.1634T>A	c.(1633-1635)cTg>cAg	p.L545Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.L481Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	545	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTGCGAACCAGGGCACGTGC	0.557																																					p.L545Q		.											.	ABCB1-582	0			c.T1634A						.						134	113	120					7																	87178755		2203	4300	6503	SO:0001583	missense	5243	exon15			CGAACCAGGGCAC	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.1634T>A	7.37:g.87178755A>T	ENSP00000265724:p.Leu545Gln	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	191	51	NM_000927	0	0	0	0	0	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720726	0.89205	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.87887	-2.31;-2.31	5.8	5.8	0.92144	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.96194	0.8759	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.97791	1.0238	10	0.87932	D	0	-11.1597	16.1435	0.81544	1.0:0.0:0.0:0.0	.	481;545	B5AK60;P08183	.;MDR1_HUMAN	Q	326;545;481	ENSP00000265724:L545Q;ENSP00000444095:L481Q	ENSP00000265724:L545Q	L	-	2	0	ABCB1	87016691	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.315000	0.96313	2.212000	0.71576	0.528000	0.53228	CTG	.		0.557	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87178755	A	T	87178755	3	4	10	1	0	0	0	0	1	0	0	0	40	188	7	5	2268	5	ABCB1	7	87178755	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	2493654	87178755	71959908	169	2495											
RUNDC3B	154661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	87400049	87400049	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttaaacaaaagtatcagcTtaccctggaacagaaggtat	8	7	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:87400049T>A	ENST00000338056.3	+	8	1244	c.833T>A	c.(832-834)cTt>cAt	p.L278H	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L261H|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L261H	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	278										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAGTATCAGCTTACCCTGGAA	0.358																																					p.L278H		.											.	RUNDC3B-69	0			c.T833A						.						69	65	66					7																	87400049		2203	4300	6503	SO:0001583	missense	154661	exon8			ATCAGCTTACCCT		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.833T>A	7.37:g.87400049T>A	ENSP00000337732:p.Leu278His	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	155	68	NM_138290	0	0	0	0	0	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714428	0.89112	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.48522	0.81;0.81;0.81	5.51	5.51	0.81932	.	0.117433	0.64402	D	0.000009	T	0.57125	0.2032	L	0.34521	1.04	0.53005	D	0.999969	D;D;D;D;D	0.76494	0.993;0.993;0.996;0.999;0.991	P;P;P;D;P	0.66847	0.781;0.781;0.794;0.947;0.827	T	0.57774	-0.7753	10	0.46703	T	0.11	-8.3564	15.6326	0.76923	0.0:0.0:0.0:1.0	.	261;261;183;261;278	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	H	278;261;261	ENSP00000337732:L278H;ENSP00000420394:L261H;ENSP00000378149:L261H	ENSP00000337732:L278H	L	+	2	0	RUNDC3B	87237985	1.000000	0.71417	0.852000	0.33557	0.981000	0.71138	5.795000	0.69074	2.065000	0.61736	0.528000	0.53228	CTT	.		0.358	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		A	87400049	T	A	87400049	3	1	10	1	0	0	0	0	1	0	0	0	13790	1609	56	5	863	5	RUNDC3B	7	87400049	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	221294	87400049	71738614	170	2496											
STEAP2	261729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	89854425	89854425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctctatgatgggaagccCtaagagccttagtgaaactt	9	8	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:89854425C>T	ENST00000287908.3	+	2	422	c.29C>T	c.(28-30)cCt>cTt	p.P10L	STEAP2_ENST00000394629.2_Missense_Mutation_p.P10L|STEAP2_ENST00000402625.2_Missense_Mutation_p.P10L|STEAP2_ENST00000394626.1_Missense_Mutation_p.P10L|STEAP2_ENST00000394621.2_Missense_Mutation_p.P10L|STEAP2_ENST00000394622.2_Missense_Mutation_p.P10L|STEAP2_ENST00000394632.1_Missense_Mutation_p.P10L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	10					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGGGAAGCCCTAAGAGCCTT	0.393																																					p.P10L		.											.	STEAP2-92	0			c.C29T						.						114	107	110					7																	89854425		2203	4300	6503	SO:0001583	missense	261729	exon3			GAAGCCCTAAGAG	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.29C>T	7.37:g.89854425C>T	ENSP00000287908:p.Pro10Leu	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	172	54	NM_001040665	0	0	2	2	0	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336390	0.60963	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000426158;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T;T;T	0.46819	1.93;3.22;2.97;3.22;2.91;0.86;3.22;2.95;2.97	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21753	0.015;0.005;0.005;0.06	B;B;B;B	0.17433	0.016;0.003;0.003;0.018	T	0.18999	-1.0319	10	0.87932	D	0	-16.6837	20.1338	0.98010	0.0:1.0:0.0:0.0	.	10;10;10;10	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	10	ENSP00000401783:P10L;ENSP00000287908:P10L;ENSP00000378123:P10L;ENSP00000378120:P10L;ENSP00000378128:P10L;ENSP00000415931:P10L;ENSP00000378119:P10L;ENSP00000384191:P10L;ENSP00000378125:P10L	ENSP00000287908:P10L	P	+	2	0	STEAP2	89692361	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.647000	0.74354	2.770000	0.95276	0.655000	0.94253	CCT	.		0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		T	89854425	C	T	89854425	3	4	10	1	0	0	0	0	1	0	0	0	15325	681	24	3	31	3	STEAP2	7	89854425	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2454376	89854425	69284238	171	2497											
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	114268677	114268677	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcagcaacaagtcctgtCtcctcagcagctacaagccc	6	17	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:114268677C>A	ENST00000393494.2	+	4	620	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393500.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.S114Y|FOXP2_ENST00000393489.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.S114Y|FOXP2_ENST00000408937.3_Missense_Mutation_p.S139Y|FOXP2_ENST00000360232.4_Missense_Mutation_p.S114Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.S138Y|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.S114Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.S114Y			O15409	FOXP2_HUMAN	forkhead box P2	114	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						CAAGTCCTGTCTCCTCAGCAG	0.517																																					p.S139Y		.											.	FOXP2-295	0			c.C416A						.						228	183	199					7																	114268677		2203	4300	6503	SO:0001583	missense	93986	exon4			TCCTGTCTCCTCA	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.341C>A	7.37:g.114268677C>A	ENSP00000377132:p.Ser114Tyr	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	140	39	NM_001172767	0	0	0	0	0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533008	0.64972	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;1.25;1.92;1.49;1.25;1.25;0.77;1.25;1.51;1.22	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D	0.64830	0.99;0.99;0.99;0.994;0.994;0.99;0.994;0.994	D;D;D;D;D;D;D;D	0.77004	0.962;0.962;0.962;0.983;0.989;0.962;0.983;0.983	D	0.86065	0.1534	10	0.87932	D	0	.	16.1152	0.81302	0.1348:0.8652:0.0:0.0	.	114;114;22;114;138;114;139;139	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;.;FOXP2_HUMAN;.;.	Y	22;114;114;139;114;114;114;114;22;114;114;138;22	ENSP00000377137:S22Y;ENSP00000377132:S114Y;ENSP00000386200:S139Y;ENSP00000385069:S114Y;ENSP00000265436:S114Y;ENSP00000367482:S114Y;ENSP00000377129:S22Y;ENSP00000353367:S114Y;ENSP00000375084:S138Y;ENSP00000377130:S22Y	ENSP00000319424:S114Y	S	+	2	0	FOXP2	114055913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.403000	0.46800	0.650000	0.86243	TCT	.		0.517	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114268677	C	A	114268677	3	1	10	1	0	0	0	0	1	0	0	0	6051	913	32	3	430	3	FOXP2	7	114268677	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	24414252	114268677	44869986	172	2498											
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	117232327	117232327	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaaggaagaattctattctCaatccaatcaactctatacg	4	9	4	1	rs1800102		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:117232327C>G	ENST00000003084.6	+	14	2238	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	CFTR_ENST00000454343.1_Silent_p.L641L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	702					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)	ATTCTATTCTCAATCCAATCA	0.383									Cystic Fibrosis																												p.L702L		.											.	CFTR-518	0			c.C2106G						.						39	41	40					7																	117232327		2203	4300	6503	SO:0001819	synonymous_variant	1080	exon14	Familial Cancer Database	CF	TATTCTCAATCCA	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.2106C>G	7.37:g.117232327C>G		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_000492	0	0	0	0	0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																			.		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		G	117232327	C	G	117232327	2	3	10	1	0	0	0	0	0	0	0	1	3301	813	29	3		3	CFTR	7	117232327	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2963650	117232327	41906336	173	2499											
CTTNBP2	83992	hgsc.bcm.edu	37	chr7	117358169	117358169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatcatccctggaatcaGcaatctagaaaatacagaat	5	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:117358169G>T	ENST00000160373.3	-	22	4740	c.4649C>A	c.(4648-4650)gCt>gAt	p.A1550D		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1550					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAATCAGCAATCTAGAA	0.408																																					p.A1550D		.											.	CTTNBP2-94	0			c.C4649A						.						73	65	68					7																	117358169		2203	4300	6503	SO:0001583	missense	83992	exon22			GAATCAGCAATCT		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4649C>A	7.37:g.117358169G>T	ENSP00000160373:p.Ala1550Asp	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	75	4	NM_033427	0	0	0	0	0	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.007022|4.007022	0.74932|0.74932	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.68025|.	-0.3|.	5.61|5.61	4.72|4.72	0.59763|0.59763	.|.	0.501287|.	0.23455|.	N|.	0.047993|.	T|.	0.65080|.	0.2657|.	M|M	0.65975|0.65975	2.015|2.015	0.42037|0.42037	D|D	0.99105|0.99105	D|.	0.56746|.	0.977|.	P|.	0.50192|.	0.634|.	T|.	0.64232|.	-0.6456|.	10|.	0.72032|.	D|.	0.01|.	-24.5077|-24.5077	10.5072|10.5072	0.44841|0.44841	0.1472:0.0:0.8528:0.0|0.1472:0.0:0.8528:0.0	.|.	1550|.	Q8WZ74|.	CTTB2_HUMAN|.	D|X	1550|1037	ENSP00000160373:A1550D|.	ENSP00000160373:A1550D|.	A|C	-|-	2|3	0|2	CTTNBP2|CTTNBP2	117145405|117145405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.675000|2.675000	0.46875|0.46875	2.633000|2.633000	0.89246|0.89246	0.563000|0.563000	0.77884|0.77884	GCT|TGC	.		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117358169	G	T	117358169	3	4	10	1	0	0	0	0	1	0	0	0	4054	971	34	3	350	3	CTTNBP2	7	117358169	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	125842	117358169	41780494	174	2500											
FEZF1	389549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	121942939	121942939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgagtgtttaaagtggaaCttctattaaatgctttgcca	8	5	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:121942939C>A	ENST00000442488.2	-	3	1050	c.983G>T	c.(982-984)aGt>aTt	p.S328I	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.S278I|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S324I	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	328					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						TAAAGTGGAACTTCTATTAAA	0.388																																					p.S328I		.											.	FEZF1-91	0			c.G983T						.						111	112	112					7																	121942939		2203	4300	6503	SO:0001583	missense	389549	exon3			GTGGAACTTCTAT	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.983G>T	7.37:g.121942939C>A	ENSP00000411145:p.Ser328Ile	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	89	30	NM_001024613	0	0	0	0	0	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914421	0.92178	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.23147	1.92;1.92;1.92	5.36	5.36	0.76844	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	0.46964	0.1420	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.27191	-1.0081	10	0.48119	T	0.1	-4.3912	19.4633	0.94927	0.0:1.0:0.0:0.0	.	328;278	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	I	328;324;278	ENSP00000411145:S328I;ENSP00000332777:S324I;ENSP00000392727:S278I	ENSP00000332777:S324I	S	-	2	0	FEZF1	121730175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.768000	0.85345	2.666000	0.90696	0.655000	0.94253	AGT	.		0.388	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		A	121942939	C	A	121942939	3	1	10	1	0	0	0	0	1	0	0	0	5847	565	20	3	452	3	FEZF1	7	121942939	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4584770	121942939	37195724	175	2501											
SLC13A1	6561	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	122759235	122759235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatatcagaattattagcCatgctggtaatgaacccaga	8	7	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:122759235C>A	ENST00000194130.2	-	13	1451	c.1412G>T	c.(1411-1413)tGg>tTg	p.W471L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	471					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AATTATTAGCCATGCTGGTAA	0.348																																					p.W471L		.											.	SLC13A1-92	0			c.G1412T						.						96	99	98					7																	122759235		2203	4300	6503	SO:0001583	missense	6561	exon13			ATTAGCCATGCTG		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1412G>T	7.37:g.122759235C>A	ENSP00000194130:p.Trp471Leu	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	74	28	NM_022444	0	0	0	0	0	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343973	0.41498	.	.	ENSG00000081800	ENST00000194130	T	0.02258	4.37	5.26	5.26	0.73747	.	0.248184	0.43260	D	0.000585	T	0.02533	0.0077	N	0.19112	0.55	0.80722	D	1	B;B	0.29481	0.245;0.245	B;B	0.36608	0.229;0.229	T	0.54180	-0.8332	10	0.07325	T	0.83	-23.5817	17.8468	0.88732	0.0:1.0:0.0:0.0	.	471;471	A4D0X1;Q9BZW2	.;S13A1_HUMAN	L	471	ENSP00000194130:W471L	ENSP00000194130:W471L	W	-	2	0	SLC13A1	122546471	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	2.161000	0.42358	2.441000	0.82636	0.591000	0.81541	TGG	.		0.348	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		A	122759235	C	A	122759235	3	1	10	1	0	0	0	0	1	0	0	0	14436	595	21	3	387	3	SLC13A1	7	122759235	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	816296	122759235	36379428	176	2502											
POT1	25913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	124503540	124503540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgagtagatgcccaaacaCgtaaggcttctaccattttg	8	9	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:124503540C>A	ENST00000357628.3	-	8	1008	c.410G>T	c.(409-411)cGt>cTt	p.R137L	POT1_ENST00000393329.1_Missense_Mutation_p.R6L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	137			R -> H (in CMM10; increased telomere intensity signals and telomere fragility). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.R137L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGCCCAAACACGTAAGGCTTC	0.438																																					p.R137L	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	.											.	POT1-227	2	Substitution - Missense(2)	lung(2)	c.G410T						.						164	147	153					7																	124503540		2203	4300	6503	SO:0001583	missense	25913	exon8			CAAACACGTAAGG	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.410G>T	7.37:g.124503540C>A	ENSP00000350249:p.Arg137Leu	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	267	96	NM_015450	0	0	0	1	1	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737655	0.89573	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.63417	-0.04;0.04	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.055770	0.64402	D	0.000001	T	0.81475	0.4830	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83571	0.0112	10	0.62326	D	0.03	0.1077	18.2686	0.90060	0.0:1.0:0.0:0.0	.	137	Q9NUX5	POTE1_HUMAN	L	137;6;137;137;137;136	ENSP00000350249:R137L;ENSP00000377002:R6L	ENSP00000265391:R136L	R	-	2	0	POT1	124290776	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.047000	0.71038	2.543000	0.85770	0.650000	0.86243	CGT	.		0.438	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			A	124503540	C	A	124503540	3	1	10	1	0	0	0	0	1	0	0	0	12299	536	19	2	1542	2	POT1	7	124503540	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1744305	124503540	34635123	177	2503											
BRAF	673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	140453154	140453154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtagctagaccaaaaTcacctatttttactgtgagg	7	9	2	2	rs121913338		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:140453154T>C	ENST00000288602.6	-	15	1841	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in NHL). {ECO:0000269|PubMed:14612909}.		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.D594G(35)|p.D594V(3)	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)	TAGACCAAAATCACCTATTTT	0.373		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.D594G	Colon(40;35 892 2973 5743 27438)	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	BRAF-92146	38	Substitution - Missense(38)	large_intestine(16)|skin(8)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|stomach(2)|endometrium(2)|ovary(1)	c.A1781G						.						107	100	103					7																	140453154		2203	4300	6503	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	CCAAAATCACCTA	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.1781A>G	7.37:g.140453154T>C	ENSP00000288602:p.Asp594Gly	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	77	25	NM_004333	0	0	0	1	1	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.868575|4.868575	0.91587|0.91587	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.99853|.	-7.18|.	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|.	D|D	0.86830|0.86830	0.6027|0.6027	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.74348|.	0.983|.	D|D	0.90563|0.90563	0.4517|0.4517	10|5	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	594|.	P15056|.	BRAF_HUMAN|.	G|V	594|202	ENSP00000288602:D594G|.	ENSP00000288602:D594G|.	D|I	-|-	2|1	0|0	BRAF|BRAF	140099623|140099623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GAT|ATT	.		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140453154	T	C	140453154	3	2	10	1	0	0	0	0	1	0	0	0	1500	1435	50	4	535	4	BRAF	7	140453154	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	15949614	140453154	18685509	178	2504											
CLEC5A	23601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141635690	141635690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctgctttcattccaagatGattcagaagtggataagaaa	8	8	2	4	rs117965702	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:141635690G>A	ENST00000546910.1	-	5	465	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.S67L|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.S67L	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	90	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATTCCAAGATGATTCAGAAGT	0.423																																					p.S90L	GBM(154;1592 2613 3360 42983)	.											.	CLEC5A-90	0			c.C269T						.						129	120	123					7																	141635690		2203	4300	6503	SO:0001583	missense	23601	exon5			CAAGATGATTCAG		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.269C>T	7.37:g.141635690G>A	ENSP00000449999:p.Ser90Leu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	76	27	NM_013252	0	0	0	0	0	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193281	0.22037	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.42131	0.98;0.98;0.98	4.75	-8.12	0.01078	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.143410	0.02090	N	0.053085	T	0.20210	0.0486	N	0.04705	-0.18	0.09310	N	1	B;B;B;B	0.21688	0.003;0.015;0.059;0.026	B;B;B;B	0.25759	0.002;0.063;0.059;0.063	T	0.19321	-1.0309	10	0.38643	T	0.18	0.05	7.336	0.26609	0.1898:0.0:0.5559:0.2543	.	67;67;90;90	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	L	90;67;67	ENSP00000449999:S90L;ENSP00000446890:S67L;ENSP00000414897:S67L	ENSP00000265306:S90L	S	-	2	0	CLEC5A	141282159	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.698000	0.00826	-1.093000	0.03058	-0.311000	0.09066	TCA	G|0.998;T|0.002		0.423	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		A	141635690	G	A	141635690	3	1	10	1	0	0	0	0	1	0	0	0	3526	1294	45	3	309	3	CLEC5A	7	141635690	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1182536	141635690	17502973	179	2505											
OR6V1	346517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142750104	142750104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggctacatagtgaccactGtgctgcggatcccctctgcc	10	14	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:142750104G>C	ENST00000418316.1	+	1	688	c.667G>C	c.(667-669)Gtg>Ctg	p.V223L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	223						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)					AGTGACCACTGTGCTGCGGAT	0.542																																					p.V223L		.											.	OR6V1-23	0			c.G667C						.						136	142	140					7																	142750104		2049	4199	6248	SO:0001583	missense	346517	exon1			ACCACTGTGCTGC		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.667G>C	7.37:g.142750104G>C	ENSP00000396085:p.Val223Leu	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	264	102	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413557	0.25465	.	.	ENSG00000225781	ENST00000418316	T	0.00291	8.27	4.72	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	D	0.68943	0.961	T	0.54603	-0.8269	9	0.87932	D	0	.	6.2776	0.20989	0.3022:0.0:0.6978:0.0	.	223	Q8N148	OR6V1_HUMAN	L	223	ENSP00000396085:V223L	ENSP00000396085:V223L	V	+	1	0	OR6V1	142460226	0.000000	0.05858	0.004000	0.12327	0.085000	0.17905	-0.102000	0.10956	0.603000	0.29913	0.655000	0.94253	GTG	.		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			C	142750104	G	C	142750104	3	2	10	1	0	0	0	0	1	0	0	0	11250	1377	48	3	669	3	OR6V1	7	142750104	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1114414	142750104	16388559	180	2506											
SSPO	23145	hgsc.bcm.edu;mdanderson.org	37	chr7	149518553	149518553	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagagccagccctgccctCagccctcgtgcccacccctg	8	23	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:149518553C>T	ENST00000378016.2	+	0	12622							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)			GCCCTGCCCTCAGCCCTCGTG	0.716																																					p.Q4208X		.											.	.	0			c.C12622T						.						4	6	6					7																	149518553		1871	3980	5851			23145	exon88			TGCCCTCAGCCCT	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.149518553C>T		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	56	22	NM_198455	0	0	0	0	0	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.716	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149518553	C	T	149518553	1	4	10	0	1	0	0	0	0	0	0	0	15236	827	29	3		3	SSPO	7	149518553	RNA	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	6768449	149518553	9620110	181	2507											
MFHAS1	9258	hgsc.bcm.edu	37	chr8	8750467	8750467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggccccggcggcggtAagcgtgagctggcgcaggtt	20	11	0	1	rs1062988	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:8750467A>G	ENST00000276282.6	-	1	688	c.102T>C	c.(100-102)ctT>ctC	p.L34L	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	34										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		cggcggcggTAAGCGTGAGCT	0.741													G|||	814	0.16254	0.3419	0.1196	5008	,	,		8355	0.001		0.1521	False		,,,				2504	0.1278				p.L34L	Melanoma(103;1201 2045 17515 28966)	.											.	MFHAS1-90	0			c.T102C						.	G		875,3021		81,713,1154	4	4	4		102	2.3	1	8	dbSNP_86	4	854,6846		52,750,3048	no	coding-synonymous	MFHAS1	NM_004225.2		133,1463,4202	GG,GA,AA		11.0909,22.4589,14.9103		34/1053	8750467	1729,9867	1948	3850	5798	SO:0001819	synonymous_variant	9258	exon1			GGCGGTAAGCGTG	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.102T>C	8.37:g.8750467A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_004225	0	0	0	0	0	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																			A|0.857;G|0.143		0.741	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		G	8750467	A	G	8750467	2	3	10	1	0	0	0	0	0	0	0	1	9559	349	13	4		4	MFHAS1	8	8750467	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10		8750467	137613555	182	2508											
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	35579843	35579843	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggagccagagtgactatggCgtggacgtcattgactcttc	13	10	2	3	rs577473098	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:35579843C>G	ENST00000404895.2	+	9	1561	c.1233C>G	c.(1231-1233)ggC>ggG	p.G411G	UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000420357.1_Silent_p.G344G|UNC5D_ENST00000287272.2_Silent_p.G355G|UNC5D_ENST00000453357.2_Silent_p.G406G|UNC5D_ENST00000416672.1_Silent_p.G416G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	411					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)		GTGACTATGGCGTGGACGTCA	0.557																																					p.G411G		.											.	UNC5D-96	0			c.C1233G						.						273	231	245					8																	35579843		2203	4300	6503	SO:0001819	synonymous_variant	137970	exon9			CTATGGCGTGGAC	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.1233C>G	8.37:g.35579843C>G		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	207	120	NM_080872	0	0	0	0	0	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			.		0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			G	35579843	C	G	35579843	2	3	10	1	0	0	0	0	0	0	0	1	17044	755	27	2		2	UNC5D	8	35579843	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	26829376	35579843	110784179	183	2509											
PRKDC	5591	broad.mit.edu	37	chr8	48801138	48801138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtttacaggcagacaCaacagcagccagcctgctcc	9	14	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:48801138C>A	ENST00000314191.2	-	35	4407	c.4351G>T	c.(4351-4353)Gtg>Ttg	p.V1451L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V1451L|PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1452					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)	CAGGCAGACACAACAGCAGCC	0.438								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			.						.						29	31	30					8																	48801138		1989	4184	6173	SO:0001583	missense	5591	.			CAGACACAACAGC		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.4351G>T	8.37:g.48801138C>A	ENSP00000313420:p.Val1451Leu	Somatic	244	1		WXS	Illumina GAIIx	Phase_I	160	4	.	0	0	1	1	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	2.029	-0.422921	0.04734	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02158	4.47;4.42	5.37	2.43	0.29744	.	0.162693	0.40908	N	0.000990	T	0.01320	0.0043	N	0.25144	0.715	0.27079	N	0.963125	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47649	-0.9101	10	0.06494	T	0.89	.	3.8507	0.08954	0.1193:0.405:0.3752:0.1004	.	1451;1452	E7EUY0;P78527	.;PRKDC_HUMAN	L	1451	ENSP00000313420:V1451L;ENSP00000345182:V1451L	ENSP00000313420:V1451L	V	-	1	0	PRKDC	48963691	0.998000	0.40836	0.016000	0.15963	0.575000	0.36095	3.009000	0.49552	0.603000	0.29913	-0.229000	0.12294	GTG	.		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48801138	C	A	48801138	3	1	10	1	0	0	0	0	1	0	0	0	12563	478	17	3	8244	3	PRKDC	8	48801138	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13221295	48801138	97562884	184	2510											
PXDNL	137902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	52321329	52321329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccggccaggaaacagGggctctcctgctcctgtcgc	13	16	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:52321329G>T	ENST00000356297.4	-	17	2955	c.2855C>A	c.(2854-2856)cCc>cAc	p.P952H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P952H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	952					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)				CAGGAAACAGGGGCTCTCCTG	0.642																																					p.P952H		.											.	PXDNL-70	0			c.C2855A						.						13	15	14					8																	52321329		1976	4145	6121	SO:0001583	missense	137902	exon17			AAACAGGGGCTCT		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.2855C>A	8.37:g.52321329G>T	ENSP00000348645:p.Pro952His	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	144	82	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.859617|1.859617	0.32884|0.32884	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|T	0.69175|0.68331	-0.38;-0.38|-0.32	4.02|4.02	2.16|2.16	0.27623|0.27623	.|.	0.127663|0.127663	0.35495|0.35495	N|N	0.003167|0.003167	T|T	0.69913|0.69913	0.3164|0.3164	M|M	0.82630|0.82630	2.6|2.6	0.24756|0.24756	N|N	0.992955|0.992955	D|.	0.69078|.	0.997|.	D|.	0.66979|.	0.948|.	T|T	0.59193|0.59193	-0.7500|-0.7500	10|8	0.72032|0.27785	D|T	0.01|0.31	.|.	6.9385|6.9385	0.24481|0.24481	0.1042:0.1771:0.7187:0.0|0.1042:0.1771:0.7187:0.0	.|.	952|.	A1KZ92|.	PXDNL_HUMAN|.	H|T	952|71	ENSP00000348645:P952H;ENSP00000444865:P952H|ENSP00000428114:P71T	ENSP00000348645:P952H|ENSP00000428114:P71T	P|P	-|-	2|1	0|0	PXDNL|PXDNL	52483882|52483882	0.236000|0.236000	0.23804|0.23804	0.002000|0.002000	0.10522|0.10522	0.152000|0.152000	0.21847|0.21847	0.252000|0.252000	0.18278|0.18278	0.167000|0.167000	0.19631|0.19631	0.655000|0.655000	0.94253|0.94253	CCC|CCT	.		0.642	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52321329	G	T	52321329	3	4	10	1	0	0	0	0	1	0	0	0	12893	1232	43	3	1564	3	PXDNL	8	52321329	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3520191	52321329	94042693	185	2511											
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	53071652	53071652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgattaggaaatttcactgGatttggaaaatgctttgctg	10	5	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:53071652G>C	ENST00000276480.7	-	15	2295	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	538					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AATTTCACTGGATTTGGAAAA	0.413																																					p.P538A		.											.	ST18-95	0			c.C1612G						.						75	82	80					8																	53071652		2203	4300	6503	SO:0001583	missense	9705	exon15			TCACTGGATTTGG	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1612C>G	8.37:g.53071652G>C	ENSP00000276480:p.Pro538Ala	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	34	17	NM_014682	0	0	0	0	0	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549574	0.27652	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.43294	0.95;0.95	6.07	3.25	0.37280	Myelin transcription factor 1 (1);	0.152863	0.64402	N	0.000013	T	0.42675	0.1213	M	0.76002	2.32	0.54753	D	0.999982	B;B	0.23442	0.085;0.044	B;B	0.26693	0.072;0.062	T	0.22521	-1.0214	10	0.29301	T	0.29	-1.103	11.3036	0.49320	0.0639:0.2397:0.6964:0.0	.	538;538	E5RHS3;O60284	.;ST18_HUMAN	A	538	ENSP00000276480:P538A;ENSP00000428521:P538A	ENSP00000276480:P538A	P	-	1	0	ST18	53234205	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.935000	0.48963	0.417000	0.25871	0.650000	0.86243	CCA	.		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			C	53071652	G	C	53071652	3	2	10	1	0	0	0	0	1	0	0	0	15259	1174	41	3	1579	3	ST18	8	53071652	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	750323	53071652	93292370	186	2512											
HEY1	23462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	80677603	80677603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacagtttggaggcggaGgtgaccacagggagcaccgg	19	9	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:80677603G>A	ENST00000354724.3	-	5	934	c.735C>T	c.(733-735)acC>acT	p.T245T	HEY1_ENST00000435063.2_5'UTR|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_Silent_p.T155T|HEY1_ENST00000337919.5_Silent_p.T249T	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	245					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TGGAGGCGGAGGTGACCACAG	0.667			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T249T		.		Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	.	HEY1-658	0			c.C747T						.						20	16	17					8																	80677603		2185	4270	6455	SO:0001819	synonymous_variant	23462	exon5			GGCGGAGGTGACC	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"Basic helix-loop-helix proteins"	4880	protein-coding gene	gene with protein product		602953	"hairy/enhancer-of-split related with YRPW motif 1"			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.735C>T	8.37:g.80677603G>A		Somatic	115	0	1200	WXS	Illumina GAIIx	Phase_I	283	30	NM_001040708	0	0	3	3	0	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																			.		0.667	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		A	80677603	G	A	80677603	2	1	10	1	0	0	0	0	0	0	0	1	7105	987	35	3		3	HEY1	8	80677603	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	27605951	80677603	65686419	187	2513											
ZFPM2	23414	broad.mit.edu;bcgsc.ca	37	chr8	106813740	106813740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagtctgagccctctagccCaagacttgcctcatctccag	7	15	4	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:106813740C>A	ENST00000407775.2	+	8	1680	c.1430C>A	c.(1429-1431)cCa>cAa	p.P477Q	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P345Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P208Q|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P345Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	477					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCTCTAGCCCAAGACTTGCC	0.448																																					p.P477Q		.											.	ZFPM2-139	0			c.C1430A						.						95	99	98					8																	106813740		1871	4096	5967	SO:0001583	missense	23414	exon8			CTAGCCCAAGACT	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1430C>A	8.37:g.106813740C>A	ENSP00000384179:p.Pro477Gln	Somatic	52	2		WXS	Illumina GAIIx	Phase_I	53	38	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180604	0.78677	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.36699	1.24;1.78;1.78;3.0	5.97	5.97	0.96955	.	0.048111	0.85682	D	0.000000	T	0.59321	0.2185	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56786	-0.7921	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	477	Q8WW38	FOG2_HUMAN	Q	477;345;345;208	ENSP00000384179:P477Q;ENSP00000430757:P345Q;ENSP00000428720:P345Q;ENSP00000367733:P208Q	ENSP00000367733:P208Q	P	+	2	0	ZFPM2	106882916	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CCA	.		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106813740	C	A	106813740	3	1	10	1	0	0	0	0	1	0	0	0	17706	594	21	3	1460	3	ZFPM2	8	106813740	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	26136137	106813740	39550282	188	2514											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	114449052	114449052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagggtttggattcctttGctcggctttcccctttgcgg	11	13	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:114449052G>T	ENST00000297405.5	-	1	276	c.32C>A	c.(31-33)gCa>gAa	p.A11E	CSMD3_ENST00000455883.2_Missense_Mutation_p.A11E|CSMD3_ENST00000352409.3_Missense_Mutation_p.A11E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						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						GGATTCCTTTGCTCGGCTTTC	0.517										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A11E		.											.	CSMD3-1132	0			c.C32A						.						102	109	107					8																	114449052		2203	4300	6503	SO:0001583	missense	114788	exon1			TCCTTTGCTCGGC	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.32C>A	8.37:g.114449052G>T	ENSP00000297405:p.Ala11Glu	Somatic	43	0	1458	WXS	Illumina GAIIx	Phase_I	44	32	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109793	0.37242	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.05;1.71;2.04	5.77	4.91	0.64330	.	0.000000	0.38111	U	0.001803	T	0.29749	0.0743	N	0.08118	0	0.35002	D	0.756033	P;P;D;P	0.76494	0.728;0.852;0.999;0.608	P;B;D;B	0.67548	0.503;0.407;0.952;0.306	T	0.52003	-0.8633	10	0.72032	D	0.01	.	14.1372	0.65295	0.072:0.0:0.928:0.0	.	11;11;11;11	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	E	11	ENSP00000297405:A11E;ENSP00000412263:A11E;ENSP00000343124:A11E	ENSP00000297405:A11E	A	-	2	0	CSMD3	114518228	1.000000	0.71417	0.817000	0.32601	0.570000	0.35934	4.005000	0.57075	1.451000	0.47736	-0.137000	0.14449	GCA	.		0.517	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114449052	G	T	114449052	3	4	10	1	0	0	0	0	1	0	0	0	3955	1319	46	3	11437	3	CSMD3	8	114449052	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	7635312	114449052	31914970	189	2515											
CYP11B2	1585	ucsc.edu	37	chr8	143994279	143994279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcaccactcgctccaAaaacagacccacagggtaga	8	14	1	3	rs61757295	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:143994279A>G	ENST00000323110.2	-	7	1146	c.1144T>C	c.(1144-1146)Ttg>Ctg	p.L382L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ACTCGCTCCAAAAACAGACCC	0.597									Familial Hyperaldosteronism type I				.|||	200	0.0399361	0.0416	0.0288	5008	,	,		15944	0.0546		0.0089	False		,,,				2504	0.0624				p.L382L		.											.	CYP11B2-90	0			c.T1144C						.						68	66	66					8																	143994279		2202	4300	6502	SO:0001819	synonymous_variant	1585	exon7	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	GCTCCAAAAACAG	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1144T>C	8.37:g.143994279A>G		Somatic	128	10		WXS	Illumina GAIIx	Phase_I	354	89	NM_000498	0	0	0	0	0	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																			A|0.992;G|0.008		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			G	143994279	A	G	143994279	2	3	10	1	0	0	0	0	0	0	0	1	4155	11	1	4		4	CYP11B2	8	143994279	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	29545227	143994279	2369743	190	2516											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_030895	0	0	0	1	1	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	10	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	384589	144378868	1985154	191	2517											
C8orf73	642475	hgsc.bcm.edu	37	chr8	144649601	144649601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcgctgccgcggccacAgccggcttggggtcgctctg	16	15	1	0	rs13268196	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144649601A>G	ENST00000398882.3	-	14	2224	c.1968T>C	c.(1966-1968)gcT>gcC	p.A656A	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_Intron|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	656																	CCGCGGCCACAGCCGGCTTGG	0.776													G|||	4732	0.944888	0.8018	0.9827	5008	,	,		8608	1		0.998	False		,,,				2504	1				p.A656A		.											.	.	0			c.T1968C						.						1	2	2					8																	144649601		1007	2126	3133	SO:0001819	synonymous_variant	642475	exon14			GGCCACAGCCGGC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1968T>C	8.37:g.144649601A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001100878	0	0	0	3	3	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			A|0.057;G|0.943		0.776	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		G	144649601	A	G	144649601	2	3	10	1	0	0	0	0	0	0	0	1	2442	175	7	4		4	C8orf73	8	144649601	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	270733	144649601	1714421	192	2518											
C8orf73	642475	hgsc.bcm.edu	37	chr8	144649625	144649625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggggtcgctctgcagTcgccctaggtctgcgaggag	17	11	2	0	rs10097556	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_Intron|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	648																	CGCTCTGCAGTCGCCCTAGGT	0.771													C|||	4736	0.945687	0.8041	0.9841	5008	,	,		9094	1		0.998	False		,,,				2504	1				p.R648R		.											.	.	0			c.A1944G						.						2	3	2					8																	144649625		1227	2564	3791	SO:0001819	synonymous_variant	642475	exon14			CTGCAGTCGCCCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1944A>G	8.37:g.144649625T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_001100878	0	0	0	0	0	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.058;C|0.942		0.771	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144649625	T	C	144649625	2	2	10	1	0	0	0	0	0	0	0	1	2442	1654	58	4		4	C8orf73	8	144649625	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	24	144649625	1714397	193	2519											
LRRC24	441381	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	145747994	145747994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcggttgatgacgaacatCtcgtggccgcgctcgtcgcg	15	12	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:145747994C>T	ENST00000529415.2	-	5	1524	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.E466E|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	469						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACGAACATCTCGTGGCCGC	0.716																																					p.E469E		.											.	LRRC24-90	0			c.G1407A						.						13	14	14					8																	145747994		2168	4274	6442	SO:0001819	synonymous_variant	441381	exon5			GAACATCTCGTGG	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1407G>A	8.37:g.145747994C>T		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	301	57	NM_001024678	0	0	13	16	3		Silent	SNP	ENST00000529415.2	37	CCDS34969.1																																																																																			.		0.716	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		T	145747994	C	T	145747994	2	4	10	1	0	0	0	0	0	0	0	1	9014	912	32	3		3	LRRC24	8	145747994	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1098369	145747994	616028	194	2520											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	10	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	285353	146033347	330675	195	2521											
SLC1A1	6505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	4573909	4573909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgcttcctttccagttAtatgccactaggtattttgt	8	8	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:4573909A>T	ENST00000262352.3	+	8	1006	c.770A>T	c.(769-771)tAt>tTt	p.Y257F		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	257					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CTTTCCAGTTATATGCCACTA	0.493																																					p.Y257F		.											.	SLC1A1-514	0			c.A770T						.						223	224	224					9																	4573909		2203	4300	6503	SO:0001583	missense	6505	exon8			CCAGTTATATGCC		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.770A>T	9.37:g.4573909A>T	ENSP00000262352:p.Tyr257Phe	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	137	21	NM_004170	0	0	0	0	0	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.25|17.25	3.341512|3.341512	0.61073|0.61073	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000422398|ENST00000262352	.|T	.|0.57273	.|0.41	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.056394	.|0.64402	.|D	.|0.000001	T|T	0.60405|0.60405	0.2266|0.2266	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	.|B	.|0.25486	.|0.127	.|B	.|0.42771	.|0.397	T|T	0.62416|0.62416	-0.6859|-0.6859	5|10	.|0.62326	.|D	.|0.03	.|.	15.7798|15.7798	0.78252|0.78252	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|257	.|P43005	.|EAA3_HUMAN	F|F	19|257	.|ENSP00000262352:Y257F	.|ENSP00000262352:Y257F	L|Y	+|+	3|2	2|0	SLC1A1|SLC1A1	4563909|4563909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.675000|0.675000	0.39556|0.39556	7.439000|7.439000	0.80444|0.80444	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	TTA|TAT	.		0.493	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			T	4573909	A	T	4573909	3	4	10	1	0	0	0	0	1	0	0	0	14476	449	16	5	800	5	SLC1A1	9	4573909	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10		4573909	136639522	196	2522											
CNTLN	54875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	17462995	17462995	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaaagaagaacacataAaggaaatgcatgaaaagtat	8	4	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:17462995A>T	ENST00000380647.3	+	20	3472	c.3388A>T	c.(3388-3390)Aag>Tag	p.K1130*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.K1130*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.K1130*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1130					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)		AGAACACATAAAGGAAATGCA	0.338																																					p.K1130X		.											.	CNTLN-91	0			c.A3388T						.						82	83	82					9																	17462995		1827	4074	5901	SO:0001587	stop_gained	54875	exon20			CACATAAAGGAAA	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.3388A>T	9.37:g.17462995A>T	ENSP00000370021:p.Lys1130*	Somatic	283	0		WXS	Illumina GAIIx	Phase_I	335	104	NM_017738	0	0	4	4	0	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	39	7.569779	0.98365	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	5.13	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0274	0.42079	0.5695:0.4305:0.0:0.0	.	.	.	.	X	1130	.	ENSP00000262360:K1130X	K	+	1	0	CNTLN	17452995	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.613000	0.46351	1.926000	0.55796	0.533000	0.62120	AAG	.		0.338	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		T	17462995	A	T	17462995	4	4	10	1	0	0	0	0	0	1	0	0	3646	15	1	5	3496	5	CNTLN	9	17462995	Nonsense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	12889086	17462995	123750436	197	2523											
ADAMTSL1	92949	hgsc.bcm.edu	37	chr9	18776919	18776919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagacggcggtggtgctgCgctgcccggcgcgcagggtc	18	14	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:18776919C>T	ENST00000380548.4	+	19	3031	c.2692C>T	c.(2692-2694)Cgc>Tgc	p.R898C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	898	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGTGGTGCTGCGCTGCCCGGC	0.677																																					p.R898C		.											.	ADAMTSL1-230	0			c.C2692T						.						22	28	26					9																	18776919		2056	4184	6240	SO:0001583	missense	92949	exon19			GTGCTGCGCTGCC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2692C>T	9.37:g.18776919C>T	ENSP00000369921:p.Arg898Cys	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	139	47	NM_001040272	0	0	0	0	0	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723755	0.48728	.	.	ENSG00000178031	ENST00000380548	T	0.13307	2.6	5.48	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.311612	0.12568	U	0.457547	T	0.18635	0.0447	M	0.75777	2.31	0.80722	D	1	B	0.32800	0.385	B	0.29353	0.101	T	0.05852	-1.0860	10	0.87932	D	0	.	11.8564	0.52439	0.1308:0.7986:0.0:0.0706	.	898	Q8N6G6	ATL1_HUMAN	C	898	ENSP00000369921:R898C	ENSP00000369921:R898C	R	+	1	0	ADAMTSL1	18766919	1.000000	0.71417	0.953000	0.39169	0.172000	0.22775	3.623000	0.54224	1.313000	0.45069	-0.251000	0.11542	CGC	.		0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18776919	C	T	18776919	3	4	10	1	0	0	0	0	1	0	0	0	274	768	27	1	2770	1	ADAMTSL1	9	18776919	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1313924	18776919	122436512	198	2524											
DENND4C	55667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	19300261	19300261	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgctctttgttttacttGagagtaaaattctgctgcat	8	7	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:19300261G>T	ENST00000380432.2	+	5	568	c.535G>T	c.(535-537)Gag>Tag	p.E179*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E415*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E415*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	179	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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						TGTTTTACTTGAGAGTAAAAT	0.398																																					p.E415X		.											.	DENND4C-92	0			c.G1243T						.						182	160	167					9																	19300261		2203	4300	6503	SO:0001587	stop_gained	55667	exon9			TTACTTGAGAGTA	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.535G>T	9.37:g.19300261G>T	ENSP00000369797:p.Glu179*	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	80	31	NM_017925	0	0	0	0	0	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.437704	0.97568	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1227	18.7218	0.91698	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000369802:E179X	E	+	1	0	DENND4C	19290261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.730000	0.93505	0.484000	0.47621	GAG	.		0.398	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		T	19300261	G	T	19300261	4	4	10	1	0	0	0	0	0	1	0	0	4449	1291	45	3	553	3	DENND4C	9	19300261	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	523342	19300261	121913170	199	2525											
ELAVL2	1993	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	23693475	23693476	+	Frame_Shift_Ins	INS	-	-	T													cataagccatattgagcagaINSttgtccaacctgcaaaacac							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:23693475_23693476insT	ENST00000397312.2	-	6	996_997	c.722_723insA	c.(721-723)aatfs	p.N241fs	ELAVL2_ENST00000544538.1_Frame_Shift_Ins_p.N241fs|ELAVL2_ENST00000380110.4_Frame_Shift_Ins_p.N270fs|ELAVL2_ENST00000380117.1_Frame_Shift_Ins_p.N241fs|ELAVL2_ENST00000223951.6_Intron	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	241					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TATTGAGCAGATTGTCCAACCT	0.396																																					p.N241fs		.											.	ELAVL2-516	0			c.723_724insA						.																																			SO:0001589	frameshift_variant	1993	exon6			GAGCAGATTGTCC	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.723dupA	9.37:g.23693477_23693477dupT	ENSP00000380479:p.Asn241fs	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	122	42	NM_004432	0	0	0	0	0	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Frame_Shift_Ins	INS	ENST00000397312.2	37	CCDS6515.1																																																																																			.		0.396	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		T	23693476	-	T	23693475	7	5	10	1	0	1	1	0	0	0	0	0	5066	330	12	0	364	0	ELAVL2	9	23693475	Frame_Shift_Ins	INS	-	TCGA-OR-A5JB-01A-11D-A29I-10	4393214	23693475	117519956	200	2526											
ELAVL2	1993	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	23701604	23701604	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctacaccccttgatatgccTatggtagatttgagtaaaga	8	9	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:23701604T>A	ENST00000397312.2	-	5	762		c.e5-2		ELAVL2_ENST00000544538.1_Splice_Site|ELAVL2_ENST00000380110.4_Splice_Site|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000223951.6_Splice_Site	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTGATATGCCTATGGTAGATT	0.428																																					.		.											.	ELAVL2-516	0			c.488-2A>T						.						103	106	105					9																	23701604		2203	4300	6503	SO:0001630	splice_region_variant	1993	exon6			TATGCCTATGGTA	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.488-2A>T	9.37:g.23701604T>A		Somatic	103	1		WXS	Illumina GAIIx	Phase_I	99	41	NM_004432	0	0	0	0	0	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168967	0.78339	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1096	0.81250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAVL2	23691604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.678000	0.84035	2.200000	0.70718	0.460000	0.39030	.	.		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Intron	A	23701604	T	A	23701604	5	1	10	1	0	0	0	0	0	0	1	0	5066	1536	53	5	605	5	ELAVL2	9	23701604	Splice_Site	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	8129	23701604	117511827	201	2527											
UNC13B	10497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35366986	35366986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgcctcagtggctcccgGaagggtaagtaattcactgc	11	12	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:35366986G>A	ENST00000378495.3	+	11	1432	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E404K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E416K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	404					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGGCTCCCGGAAGGGTAAGT	0.448																																					p.E404K		.											.	UNC13B-157	0			c.G1210A						.						118	109	112					9																	35366986		2203	4300	6503	SO:0001583	missense	10497	exon11			CTCCCGGAAGGGT	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1210G>A	9.37:g.35366986G>A	ENSP00000367756:p.Glu404Lys	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	80	18	NM_006377	0	0	0	0	0	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038616	0.19669	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.83419	-1.6;-1.52;-1.72	5.87	4.01	0.46588	.	0.458357	0.24096	N	0.041589	T	0.63815	0.2543	N	0.08118	0	0.26629	N	0.972503	B;B	0.14012	0.009;0.008	B;B	0.16722	0.014;0.016	T	0.47586	-0.9106	10	0.10377	T	0.69	-11.5044	10.5973	0.45345	0.0702:0.1309:0.799:0.0	.	404;404	F8W8M9;O14795	.;UN13B_HUMAN	K	416;404;404	ENSP00000380006:E416K;ENSP00000367756:E404K;ENSP00000367757:E404K	ENSP00000367756:E404K	E	+	1	0	UNC13B	35356986	1.000000	0.71417	0.988000	0.46212	0.707000	0.40811	3.629000	0.54266	1.478000	0.48253	0.655000	0.94253	GAA	.		0.448	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35366986	G	A	35366986	3	1	10	1	0	0	0	0	1	0	0	0	17034	1175	41	3	1252	3	UNC13B	9	35366986	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	11665382	35366986	105846445	202	2528											
TPM2	7169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35684309	35684309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcaaactctgctcgggtctCagcctgggggtaaaggcagg	16	10	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:35684309C>T	ENST00000360958.2	-	8	810	c.706G>A	c.(706-708)Gag>Aag	p.E236K	TPM2_ENST00000378292.3_Missense_Mutation_p.E236K|TPM2_ENST00000378300.5_Missense_Mutation_p.E236K|TPM2_ENST00000329305.2_Missense_Mutation_p.E236K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	236					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCGGGTCTCAGCCTGGGGG	0.502																																					p.E236K		.											.	TPM2-515	0			c.G706A						.						56	53	54					9																	35684309		2203	4300	6503	SO:0001583	missense	7169	exon8			GGGTCTCAGCCTG		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.706G>A	9.37:g.35684309C>T	ENSP00000354219:p.Glu236Lys	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	116	35	NM_213674	0	0	0	0	0	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	36	5.638077	0.96693	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.0	5.0	0.66597	.	.	.	.	.	D	0.95284	0.8470	H	0.99273	4.495	0.58432	D	0.999994	D;P;D;D	0.67145	0.991;0.69;0.996;0.996	D;P;D;D	0.79784	0.978;0.68;0.99;0.993	D	0.97415	1.0005	9	0.87932	D	0	-7.4533	18.1084	0.89527	0.0:1.0:0.0:0.0	.	236;236;236;236	A7XZE4;P07951;Q5TCU8;P07951-2	.;TPM2_HUMAN;.;.	K	236	ENSP00000367550:E236K;ENSP00000367542:E236K;ENSP00000367541:E236K;ENSP00000354219:E236K	ENSP00000367541:E236K	E	-	1	0	TPM2	35674309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	2.579000	0.87056	0.563000	0.77884	GAG	.		0.502	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		T	35684309	C	T	35684309	3	4	10	1	0	0	0	0	1	0	0	0	16454	835	29	3	243	3	TPM2	9	35684309	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	317323	35684309	105529122	203	2529											
FRMPD1	22844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	37733737	37733737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctattaagcaacttatttCtgctgcccagctacgtttaa	5	11	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:37733737C>T	ENST00000539465.1	+	12	1726	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S378F|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S200F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S247F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	378	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S378Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CAACTTATTTCTGCTGCCCAG	0.343																																					p.S378F		.											.	FRMPD1-159	1	Substitution - Missense(1)	large_intestine(1)	c.C1133T						.						138	139	139					9																	37733737		2203	4300	6503	SO:0001583	missense	22844	exon12			TTATTTCTGCTGC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1133C>T	9.37:g.37733737C>T	ENSP00000444411:p.Ser378Phe	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	27	11	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380748	0.82792	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.124913	0.56097	D	0.000032	D	0.87099	0.6093	M	0.65498	2.005	0.80722	D	1	P;P	0.46512	0.627;0.879	P;P	0.51742	0.678;0.557	D	0.88746	0.3247	10	0.87932	D	0	-14.7429	16.1394	0.81513	0.0:1.0:0.0:0.0	.	247;378	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	F	378;378;200;247	ENSP00000366995:S378F;ENSP00000444411:S378F;ENSP00000437762:S200F;ENSP00000444804:S247F	ENSP00000366995:S378F	S	+	2	0	FRMPD1	37723737	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.373000	0.52394	2.400000	0.81607	0.609000	0.83330	TCT	.		0.343	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37733737	C	T	37733737	3	4	10	1	0	0	0	0	1	0	0	0	6081	913	32	3	1175	3	FRMPD1	9	37733737	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2049428	37733737	103479694	204	2530											
FAM75A6	389730	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	43627291	43627291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggctgggcctggaaaaGcagtggggacattgtagtct	17	7	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:43627291G>A	ENST00000332857.6	-	4	1424	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	466					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCTGGAAAAGCAGTGGGGAC	0.517																																					p.L466F		.											.	.	0			c.C1396T						.						69	85	80					9																	43627291		615	1534	2149	SO:0001583	missense	389730	exon4			GGAAAAGCAGTGG		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.1396C>T	9.37:g.43627291G>A	ENSP00000329825:p.Leu466Phe	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	27	19	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163857	0.09287	.	.	ENSG00000185775	ENST00000332857	T	0.11277	2.79	2.03	-0.44	0.12261	.	0.761715	0.11636	N	0.544300	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	P	0.40602	0.723	B	0.43052	0.406	T	0.26815	-1.0092	10	0.31617	T	0.26	-7.7731	4.5081	0.11898	0.46:0.0:0.54:0.0	.	466	Q5VVP1	F75A6_HUMAN	F	466	ENSP00000329825:L466F	ENSP00000329825:L466F	L	-	1	0	FAM75A6	43567287	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.021000	0.13489	-0.107000	0.12088	-0.515000	0.04445	CTT	.		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43627291	G	A	43627291	3	1	10	1	0	0	0	0	1	0	0	0	5644	971	34	3	2639	3	FAM75A6	9	43627291	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5893554	43627291	97586140	205	2531											
APBA1	320	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr9	72132096	72132096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccgcctcgtcggtcacctCcacctccgcagacccctcca	7	22	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:72132096C>G	ENST00000265381.4	-	2	253	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	11					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGTCACCTCCACCTCCGCA	0.662																																					p.E11Q		.											.	APBA1-91	0			c.G31C						.						14	10	11					9																	72132096		2183	4283	6466	SO:0001583	missense	320	exon2			TCACCTCCACCTC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.31G>C	9.37:g.72132096C>G	ENSP00000265381:p.Glu11Gln	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	41	16	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356132	0.41700	.	.	ENSG00000107282	ENST00000265381	T	0.06218	3.33	5.19	5.19	0.71726	.	0.067765	0.56097	D	0.000024	T	0.06962	0.0177	N	0.24115	0.695	0.41847	D	0.990158	B	0.11235	0.004	B	0.09377	0.004	T	0.29882	-0.9997	10	0.72032	D	0.01	.	18.7323	0.91739	0.0:1.0:0.0:0.0	.	11	Q02410	APBA1_HUMAN	Q	11	ENSP00000265381:E11Q	ENSP00000265381:E11Q	E	-	1	0	APBA1	71321916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.914000	0.48797	2.437000	0.82529	0.655000	0.94253	GAG	.		0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		G	72132096	C	G	72132096	3	3	10	1	0	0	0	0	1	0	0	0	756	864	30	3	2530	3	APBA1	9	72132096	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	28504805	72132096	69081335	206	2532											
MURC	347273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	103348271	103348271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacatgcagaagacacgGcagaatcttgacaagaaagt	10	7	1	5			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:103348271G>A	ENST00000307584.5	+	2	698	c.633G>A	c.(631-633)cgG>cgA	p.R211R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	211					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGAAGACACGGCAGAATCTTG	0.453																																					p.R211R		.											.	MURC-69	0			c.G633A						.						102	107	105					9																	103348271		2203	4300	6503	SO:0001819	synonymous_variant	347273	exon2			GACACGGCAGAAT	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.633G>A	9.37:g.103348271G>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	128	26	NM_001018116	0	0	0	0	0	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																			.		0.453	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		A	103348271	G	A	103348271	2	1	10	1	0	0	0	0	0	0	0	1	10025	1190	42	3		3	MURC	9	103348271	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	31216175	103348271	37865160	207	2533											
OR13C3	138803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	107298061	107298061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtttcattagtgaattGgttttttgttcagcaaatat	8	5	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:107298061G>T	ENST00000374781.2	-	1	1076	c.1034C>A	c.(1033-1035)cCa>cAa	p.P345Q		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	345						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(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTAGTGAATTGGTTTTTTGTT	0.373																																					p.P345Q	GBM(86;1248 1274 14222 15028 46219)	.											.	OR13C3-69	0			c.C1034A						.						123	110	115					9																	107298061		2202	4300	6502	SO:0001583	missense	138803	exon1			TGAATTGGTTTTT		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.1034C>A	9.37:g.107298061G>T	ENSP00000363913:p.Pro345Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	103	29	NM_001001961	0	0	0	0	0	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146181	0.21288	.	.	ENSG00000204246	ENST00000374781	T	0.08282	3.11	4.69	-0.64	0.11493	.	1.022170	0.07836	N	0.962220	T	0.04092	0.0114	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45571	-0.9252	10	0.29301	T	0.29	.	2.5127	0.04660	0.1734:0.4096:0.2677:0.1493	.	345	Q8NGS6	O13C3_HUMAN	Q	345	ENSP00000363913:P345Q	ENSP00000363913:P345Q	P	-	2	0	OR13C3	106337882	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.362000	0.07602	-0.003000	0.14444	0.650000	0.86243	CCA	.		0.373	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			T	107298061	G	T	107298061	3	4	10	1	0	0	0	0	1	0	0	0	10974	1348	47	3	13	3	OR13C3	9	107298061	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3949790	107298061	33915370	208	2534											
OR13D1	286365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	107457687	107457687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagcctcaggaataaagagGtcaaagaggctgtaaagaaa	11	5	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:107457687G>T	ENST00000318763.5	+	1	1028	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GAATAAAGAGGTCAAAGAGGC	0.413																																					p.V329F		.											.	OR13D1-70	0			c.G985T						.						76	78	78					9																	107457687		2203	4300	6503	SO:0001583	missense	286365	exon1			AAAGAGGTCAAAG		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.985G>T	9.37:g.107457687G>T	ENSP00000317357:p.Val329Phe	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	71	20	NM_001004484	0	0	0	0	0	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855777	0.32791	.	.	ENSG00000179055	ENST00000318763	T	0.29917	1.55	3.87	3.87	0.44632	.	0.000000	0.41001	D	0.000973	T	0.48642	0.1511	L	0.58810	1.83	0.40882	D	0.984004	D	0.89917	1.0	D	0.77004	0.989	T	0.52734	-0.8536	10	0.87932	D	0	.	11.1788	0.48616	0.0:0.0:1.0:0.0	.	329	Q8NGV5	O13D1_HUMAN	F	329	ENSP00000317357:V329F	ENSP00000317357:V329F	V	+	1	0	OR13D1	106497508	0.131000	0.22433	0.200000	0.23457	0.087000	0.18053	0.004000	0.13106	1.979000	0.57680	0.511000	0.50034	GTC	.		0.413	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			T	107457687	G	T	107457687	3	4	10	1	0	0	0	0	1	0	0	0	10979	1261	44	3	987	3	OR13D1	9	107457687	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	159626	107457687	33755744	209	2535											
IKBKAP	8518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	111679945	111679945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagatgcaatcaaactgcctGagggtcttaaagcaaactca	8	9	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:111679945G>A	ENST00000374647.5	-	9	1053	c.746C>T	c.(745-747)tCa>tTa	p.S249L	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	249					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						CAAACTGCCTGAGGGTCTTAA	0.373																																					p.S249L		.											.	IKBKAP-318	0			c.C746T						.						154	157	156					9																	111679945		2203	4300	6503	SO:0001583	missense	8518	exon9			CTGCCTGAGGGTC	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.746C>T	9.37:g.111679945G>A	ENSP00000363779:p.Ser249Leu	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	92	46	NM_003640	0	0	0	0	0	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717069	0.89205	.	.	ENSG00000070061	ENST00000374647	T	0.06068	3.35	5.29	5.29	0.74685	Six-bladed beta-propeller, TolB-like (1);	0.058356	0.64402	D	0.000001	T	0.28896	0.0717	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.02713	-1.1120	10	0.87932	D	0	-2.7214	16.7869	0.85576	0.0:0.0:1.0:0.0	.	249	O95163	ELP1_HUMAN	L	249	ENSP00000363779:S249L	ENSP00000363779:S249L	S	-	2	0	IKBKAP	110719766	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.168000	0.94781	2.642000	0.89623	0.561000	0.74099	TCA	.		0.373	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			A	111679945	G	A	111679945	3	1	10	1	0	0	0	0	1	0	0	0	7637	1294	45	3	3368	3	IKBKAP	9	111679945	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4222258	111679945	29533486	210	2536											
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001004065	0	0	0	0	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	10	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1131093	112811038	28402393	211	2537											
KIAA1958	158405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	115336645	115336645	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggtgccctctgagacacaGactagccctgttgaaaggta	13	10	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:115336645G>A	ENST00000337530.6	+	2	581	c.285G>A	c.(283-285)caG>caA	p.Q95Q	KIAA1958_ENST00000374244.3_Silent_p.Q95Q|KIAA1958_ENST00000536272.1_Silent_p.Q95Q	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	95										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTGAGACACAGACTAGCCCTG	0.502																																					p.Q95Q		.											.	KIAA1958-91	0			c.G285A						.						79	78	79					9																	115336645		2203	4300	6503	SO:0001819	synonymous_variant	158405	exon2			GACACAGACTAGC	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.285G>A	9.37:g.115336645G>A		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	176	67	NM_133465	0	0	0	0	0	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																			.		0.502	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		A	115336645	G	A	115336645	2	1	10	1	0	0	0	0	0	0	0	1	8291	933	33	3		3	KIAA1958	9	115336645	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2525607	115336645	25876786	212	2538											
TLR4	7099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	120475158	120475158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtattcaaggtctggCtggtttagaagtccatcgtt	10	7	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:120475158C>A	ENST00000355622.6	+	3	853	c.752C>A	c.(751-753)gCt>gAt	p.A251D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A211D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	251					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAAGGTCTGGCTGGTTTAGAA	0.358																																					p.A251D		.											.	TLR4-577	0			c.C752A						.						69	77	74					9																	120475158		2194	4297	6491	SO:0001583	missense	7099	exon3			GTCTGGCTGGTTT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.752C>A	9.37:g.120475158C>A	ENSP00000363089:p.Ala251Asp	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_138554	0	0	0	0	0	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334129	0.41297	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38401	1.44;1.14	5.71	4.8	0.61643	.	0.348665	0.27936	N	0.017257	T	0.39036	0.1063	M	0.63843	1.955	0.45227	D	0.99823	B	0.29646	0.253	B	0.26614	0.071	T	0.29488	-1.0010	10	0.54805	T	0.06	.	16.8781	0.86057	0.0:0.8719:0.1281:0.0	.	251	O00206	TLR4_HUMAN	D	211;251	ENSP00000377997:A211D;ENSP00000363089:A251D	ENSP00000363089:A251D	A	+	2	0	TLR4	119514979	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.198000	0.42705	1.385000	0.46445	0.609000	0.83330	GCT	.		0.358	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		A	120475158	C	A	120475158	3	1	10	1	0	0	0	0	1	0	0	0	16000	797	28	3	762	3	TLR4	9	120475158	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5138513	120475158	20738273	213	2539											
LHX6	26468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	124979518	124979518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgagctctccgcacccagtCgctggcgtagatctgtcggc	13	15	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:124979518C>A	ENST00000373755.2	-	4	532	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	LHX6_ENST00000373754.2_Missense_Mutation_p.D142Y|LHX6_ENST00000394319.4_Missense_Mutation_p.D171Y|LHX6_ENST00000340587.3_Missense_Mutation_p.D171Y|LHX6_ENST00000541397.2_Missense_Mutation_p.D160Y|LHX6_ENST00000559895.1_5'UTR	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	142	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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(5)	8						CGCACCCAGTCGCTGGCGTAG	0.662																																					p.D171Y		.											.	LHX6-90	0			c.G511T						.						46	46	46					9																	124979518		2203	4300	6503	SO:0001583	missense	26468	exon5			CCCAGTCGCTGGC	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.424G>T	9.37:g.124979518C>A	ENSP00000362860:p.Asp142Tyr	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	163	19	NM_014368	0	0	0	0	0	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424542	0.96111	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.87	5.87	0.94306	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.94839	0.8003	10	0.87932	D	0	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	142;171;171	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	Y	142;142;171;171;160	ENSP00000362860:D142Y;ENSP00000362859:D142Y;ENSP00000377854:D171Y;ENSP00000340137:D171Y;ENSP00000441464:D160Y	ENSP00000340137:D171Y	D	-	1	0	LHX6	124019339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.781000	0.95711	0.655000	0.94253	GAC	.		0.662	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		A	124979518	C	A	124979518	3	1	10	1	0	0	0	0	1	0	0	0	8804	884	31	2	750	2	LHX6	9	124979518	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4504360	124979518	16233913	214	2540											
OR1J4	26219	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	125281773	125281773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttccttctcacttcaatGgcatacgatcggtatgtggc	8	10	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:125281773G>T	ENST00000340750.1	+	1	354	c.354G>T	c.(352-354)atG>atT	p.M118I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCACTTCAATGGCATACGATC	0.428																																					p.M118I		.											.	OR1J4-90	0			c.G354T						.						187	159	169					9																	125281773		2203	4300	6503	SO:0001583	missense	26219	exon1			TTCAATGGCATAC	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.354G>T	9.37:g.125281773G>T	ENSP00000343521:p.Met118Ile	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	161	63	NM_001004452	0	0	0	0	0	A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975644	0.53720	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.01126	5.3	5.54	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000767	T	0.09423	0.0232	H	0.96111	3.77	0.44188	D	0.997002	D	0.64830	0.994	P	0.58454	0.839	T	0.02075	-1.1218	10	0.66056	D	0.02	.	13.6448	0.62275	0.0752:0.0:0.9248:0.0	.	118	Q8NGS1	OR1J4_HUMAN	I	284;118	ENSP00000343521:M118I	ENSP00000407987:M284I	M	+	3	0	OR1J2;OR1J4	124321594	1.000000	0.71417	0.996000	0.52242	0.021000	0.10359	7.703000	0.84585	1.593000	0.50029	0.650000	0.86243	ATG	.		0.428	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			T	125281773	G	T	125281773	3	4	10	1	0	0	0	0	1	0	0	0	11000	1348	47	3	356	3	OR1J4	9	125281773	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	302255	125281773	15931658	215	2541											
RC3H2	54542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125645584	125645584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgcacaacaaaaagtaCcagaactttccttgagaggg	8	10	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:125645584C>A	ENST00000373670.1	-	4	1258	c.658G>T	c.(658-660)Gta>Tta	p.V220L	SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000357244.2_Missense_Mutation_p.V220L|RC3H2_ENST00000373665.2_Missense_Mutation_p.V220L|RC3H2_ENST00000423239.2_Missense_Mutation_p.V220L|RC3H2_ENST00000335387.5_Missense_Mutation_p.V220L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	220	ROQ.				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						ACAAAAAGTACCAGAACTTTC	0.393																																					p.V220L		.											.	RC3H2-523	0			c.G658T						.						170	160	163					9																	125645584		1878	4118	5996	SO:0001583	missense	54542	exon5			AAAGTACCAGAAC	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.658G>T	9.37:g.125645584C>A	ENSP00000362774:p.Val220Leu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	138	49	NM_018835	0	0	0	2	2	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947017	0.92593	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.83692	2.655	0.80722	D	1	D;P;P	0.89917	1.0;0.841;0.902	D;P;D	0.85130	0.997;0.846;0.927	D	0.97789	1.0237	10	0.87932	D	0	-13.2662	19.112	0.93319	0.0:1.0:0.0:0.0	.	220;220;220	A6NHN2;Q9HBD1;Q9HBD1-4	.;RC3H2_HUMAN;.	L	220;220;91;220;220;220	ENSP00000362774:V220L;ENSP00000349783:V220L;ENSP00000411767:V220L;ENSP00000362769:V220L;ENSP00000335150:V220L	ENSP00000335150:V220L	V	-	1	0	RC3H2	124685405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.756000	0.94617	0.585000	0.79938	GTA	.		0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		A	125645584	C	A	125645584	3	1	10	1	0	0	0	0	1	0	0	0	13212	507	18	3	3063	3	RC3H2	9	125645584	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	363811	125645584	15567847	216	2542											
DENND1A	57706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	126439003	126439003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaaaaaggtaaatacctgtCtttttgtcgtgtaatctgcc	7	7	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:126439003C>G	ENST00000373624.2	-	6	569	c.368G>C	c.(367-369)aGa>aCa	p.R123T	DENND1A_ENST00000394215.2_Missense_Mutation_p.R93T|DENND1A_ENST00000373620.3_Missense_Mutation_p.R123T|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Missense_Mutation_p.R91T|DENND1A_ENST00000373618.1_Missense_Mutation_p.R91T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	123	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						AAATACCTGTCTTTTTGTCGT	0.303																																					p.R123T		.											.	DENND1A-92	0			c.G368C						.						71	72	72					9																	126439003		2203	4300	6503	SO:0001583	missense	57706	exon6			ACCTGTCTTTTTG	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.368G>C	9.37:g.126439003C>G	ENSP00000362727:p.Arg123Thr	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	36	16	NM_024820	0	0	0	0	0	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176613	0.21704	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.99	4.12	0.48240	DENN (3);	0.106591	0.64402	D	0.000004	T	0.07413	0.0187	N	0.20685	0.6	0.27496	N	0.952148	B;B;B;B;B	0.26147	0.016;0.013;0.143;0.033;0.008	B;B;B;B;B	0.31614	0.054;0.026;0.133;0.062;0.056	T	0.36553	-0.9743	10	0.15499	T	0.54	0.009	9.8722	0.41182	0.0:0.7881:0.0:0.2119	.	91;91;93;123;123	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	T	123;91;123;93;91	ENSP00000362727:R123T;ENSP00000377766:R91T;ENSP00000362722:R123T;ENSP00000377763:R93T;ENSP00000362720:R91T	ENSP00000362720:R91T	R	-	2	0	DENND1A	125478824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.248000	0.32827	0.827000	0.34685	0.655000	0.94253	AGA	.		0.303	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		G	126439003	C	G	126439003	3	3	10	1	0	0	0	0	1	0	0	0	4440	913	32	3	2836	3	DENND1A	9	126439003	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	793419	126439003	14774428	217	2543											
PTGDS	5730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139874677	139874677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagttaaaggagaaattcaCcgccttctgcaaggcccagg	11	10	2	2	rs558159287		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:139874677C>A	ENST00000371625.3	+	5	565	c.491C>A	c.(490-492)aCc>aAc	p.T164N	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Missense_Mutation_p.T198N	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	164					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAATTCACCGCCTTCTGC	0.612																																					p.T164N		.											.	PTGDS-91	0			c.C491A						.						69	67	68					9																	139874677		2203	4300	6503	SO:0001583	missense	5730	exon5			AATTCACCGCCTT	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.491C>A	9.37:g.139874677C>A	ENSP00000360687:p.Thr164Asn	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	157	48	NM_000954	0	0	2	2	0	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.30|11.30	1.597063|1.597063	0.28445|0.28445	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000446677|ENST00000224167;ENST00000371625	.|T;T	.|0.07800	.|3.16;3.16	5.07|5.07	-5.11|-5.11	0.02901|0.02901	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|1.386280	.|0.04401	.|N	.|0.364216	T|T	0.11793|0.11793	0.0287|0.0287	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P	.|0.45474	.|0.859	.|P	.|0.47044	.|0.535	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	0.3611|0.3611	8.1845|8.1845	0.31330|0.31330	0.0:0.1445:0.5696:0.2859|0.0:0.1445:0.5696:0.2859	.|.	.|164	.|P41222	.|PTGDS_HUMAN	Q|N	186|198;164	.|ENSP00000224167:T198N;ENSP00000360687:T164N	.|ENSP00000224167:T198N	H|T	+|+	3|2	2|0	PTGDS|PTGDS	138994498|138994498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.288000|0.288000	0.27193|0.27193	-3.069000|-3.069000	0.00619|0.00619	-0.906000|-0.906000	0.03866|0.03866	0.651000|0.651000	0.88453|0.88453	CAC|ACC	.		0.612	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		A	139874677	C	A	139874677	3	1	10	1	0	0	0	0	1	0	0	0	12784	507	18	3	509	3	PTGDS	9	139874677	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13435674	139874677	1338754	218	2544											
COBRA1	25920	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	140150001	140150001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgggcgtggccaacggcGaggacctgaaggagaccctg	16	12	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:140150001G>A	ENST00000343053.4	+	1	377	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	14					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCAACGGCGAGGACCTGAA	0.751																																					p.E14K		.											.	.	0			c.G40A						.						15	13	14					9																	140150001		2055	4035	6090	SO:0001583	missense	25920	exon1			AACGGCGAGGACC	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.40G>A	9.37:g.140150001G>A	ENSP00000339495:p.Glu14Lys	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	120	47	NM_015456	0	0	9	21	12	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040090	0.75732	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.29	4.29	0.51040	.	0.117788	0.56097	D	0.000023	T	0.38108	0.1028	L	0.42245	1.32	0.58432	D	0.999995	P	0.43352	0.804	B	0.33454	0.164	T	0.25916	-1.0118	9	0.15952	T	0.53	-40.3426	13.5841	0.61919	0.0:0.0:1.0:0.0	.	14	Q8WX92	NELFB_HUMAN	K	14	.	ENSP00000339495:E14K	E	+	1	0	COBRA1	139269822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.290000	0.89925	2.207000	0.71202	0.561000	0.74099	GAG	.		0.751	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		A	140150001	G	A	140150001	3	1	10	1	0	0	0	0	1	0	0	0	3662	1059	37	1	42	1	COBRA1	9	140150001	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	275324	140150001	1063430	219	2545											
FBXO18	84893	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	5979171	5979172	+	Frame_Shift_Del	DEL	GC	GC	-													acagcctccccggagcaggtGcgcgccatggagcgcactgt							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:5979171_5979172delGC	ENST00000362091.4	+	21	3175_3176	c.3060_3061delGC	c.(3058-3063)gtgcgcfs	p.R1021fs	FBXO18_ENST00000379999.5_Frame_Shift_Del_p.R1072fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.R525fs|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1021					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGAGCAGGTGCGCGCCATGGA	0.644																																					p.1071_1072del		.											.	FBXO18-228	0			c.3213_3214del						.																																			SO:0001589	frameshift_variant	84893	exon22			GCAGGTGCGCGCC	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3060_3061delGC	10.37:g.5979175_5979176delGC	ENSP00000355415:p.Arg1021fs	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	239	76	NM_032807	0	0	0	0	0	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																			.		0.644	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		-	5979172	GC	-	5979171	7	5	10	1	0	1	0	1	0	0	0	0	5753	1306	46	0	3304	0	FBXO18	10	5979171	Frame_Shift_Del	DEL	GC	TCGA-OR-A5JB-01A-11D-A29I-10		5979171	129555576	220	2546											
FAM171A1	221061	broad.mit.edu	37	chr10	15326029	15326029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctatggaggcctggttgGtgaagatctcgatgagcgca	16	7	1	3	rs76275809		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:15326029G>T	ENST00000378116.4	-	2	179	c.173C>A	c.(172-174)aCc>aAc	p.T58N		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	58						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTGGTTGGTGAAGATCTC	0.557																																					p.T58N		.											.	FAM171A1-138	0			c.C173A						.						81	72	75					10																	15326029		2203	4300	6503	SO:0001583	missense	221061	exon2			TGGTTGGTGAAGA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.173C>A	10.37:g.15326029G>T	ENSP00000367356:p.Thr58Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	114	3	NM_001010924	0	0	0	0	0	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386785	0.42308	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.30182	1.54;1.54	5.25	1.1	0.20463	.	0.325971	0.36555	N	0.002532	T	0.21509	0.0518	L	0.44542	1.39	0.47245	D	0.999363	B	0.10296	0.003	B	0.12156	0.007	T	0.05517	-1.0880	10	0.54805	T	0.06	-11.9588	4.6125	0.12409	0.1354:0.1149:0.6161:0.1336	.	58	Q5VUB5	F1711_HUMAN	N	58;58;59;58	ENSP00000367356:T58N;ENSP00000407796:T58N	ENSP00000367354:T58N	T	-	2	0	FAM171A1	15366035	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	3.004000	0.49513	0.002000	0.14630	-0.216000	0.12614	ACC	G|0.500;C|0.500		0.557	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		T	15326029	G	T	15326029	3	4	10	1	0	0	0	0	1	0	0	0	5509	1261	44	3	2527	3	FAM171A1	10	15326029	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9346858	15326029	120208718	221	2547											
ITGA8	8516	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	15761654	15761654	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttttccacgtccaggttGaacgcctgacaggcggggga	14	11	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:15761654G>A	ENST00000378076.3	-	1	470	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	39					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						CGTCCAGGTTGAACGCCTGAC	0.692																																					p.F39F		.											.	ITGA8-230	0			c.C117T						.						18	16	17					10																	15761654		2201	4295	6496	SO:0001819	synonymous_variant	8516	exon1			CAGGTTGAACGCC	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.117C>T	10.37:g.15761654G>A		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	44	14	NM_003638	0	0	0	0	0	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																			.		0.692	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15761654	G	A	15761654	2	1	10	1	0	0	0	0	0	0	0	1	7909	1281	45	3		3	ITGA8	10	15761654	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	435625	15761654	119773093	222	2548											
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	61847904	61847904	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaactttttgtgaacattaCctggaggcccactcgaattc	7	11	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:61847904C>A	ENST00000280772.2	-	29	3732		c.e29+1		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000355288.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						GTGAACATTACCTGGAGGCCC	0.463																																					.		.											.	ANK3-107	0			c.942+1G>T						.						89	92	91					10																	61847904		2203	4300	6503	SO:0001630	splice_region_variant	288	exon8			ACATTACCTGGAG	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.3540+1G>T	10.37:g.61847904C>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	58	24	NM_001149	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545319	0.86022	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK3	61517910	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	.	.		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Intron	A	61847904	C	A	61847904	5	1	10	1	0	0	0	0	0	0	1	0	622	521	18	3	9965	3	ANK3	10	61847904	Splice_Site	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	46086250	61847904	73686843	223	2549											
HKDC1	80201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	71018532	71018532	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcacaattccttctagGaacaggcagcaacatgtgct	7	12	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:71018532G>A	ENST00000354624.5	+	15	2166	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E	HKDC1_ENST00000395086.2_Splice_Site_p.G678E	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	678	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTCCTTCTAGGAACAGGCAGC	0.458																																					p.G678E		.											.	HKDC1-95	0			c.G2033A						.						108	99	102					10																	71018532		2203	4300	6503	SO:0001630	splice_region_variant	80201	exon15			TTCTAGGAACAGG		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.2033-1G>A	10.37:g.71018532G>A		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	99	30	NM_025130	0	0	0	0	0	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.392480	0.83011	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99829	-7.0;-7.0	5.29	5.29	0.74685	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.95745	3.715	0.80722	D	1	P	0.41748	0.761	D	0.68621	0.959	D	0.95275	0.8381	9	.	.	.	.	18.9214	0.92526	0.0:0.0:1.0:0.0	.	678	Q2TB90	HKDC1_HUMAN	E	678	ENSP00000346643:G678E;ENSP00000378521:G678E	.	G	+	2	0	HKDC1	70688538	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.186000	0.94906	2.461000	0.83175	0.455000	0.32223	GGA	.		0.458	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	Missense_Mutation	A	71018532	G	A	71018532	5	1	10	1	0	0	0	0	0	0	1	0	7220	1188	41	3	2091	3	HKDC1	10	71018532	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9170628	71018532	64516215	224	2550											
NRG3	10718	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	84733611	84733611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcaagttttgtcggccCccagtcattccctgaggtcc	11	13	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:84733611C>A	ENST00000404547.1	+	7	1352	c.1352C>A	c.(1351-1353)cCc>cAc	p.P451H	NRG3_ENST00000556918.1_Missense_Mutation_p.P281H|NRG3_ENST00000372141.2_Missense_Mutation_p.P451H|NRG3_ENST00000537893.1_Missense_Mutation_p.P101H|NRG3_ENST00000404576.2_Missense_Mutation_p.P255H|NRG3_ENST00000545131.1_Missense_Mutation_p.P101H|NRG3_ENST00000372142.2_Missense_Mutation_p.P230H			P56975	NRG3_HUMAN	neuregulin 3	451					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTGTCGGCCCCCAGTCATTC	0.502																																					p.P451H		.											.	NRG3-522	0			c.C1352A						.						125	104	111					10																	84733611		2203	4300	6503	SO:0001583	missense	10718	exon7			TCGGCCCCCAGTC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1352C>A	10.37:g.84733611C>A	ENSP00000384796:p.Pro451His	Somatic	159	1		WXS	Illumina GAIIx	Phase_I	298	129	NM_001010848	0	0	0	0	0	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557222	0.65425	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54479	1.39;1.43;0.57;0.57;0.57;0.57;0.57	6.06	5.09	0.68999	.	0.330996	0.25900	N	0.027578	T	0.46483	0.1395	L	0.36672	1.1	0.28042	N	0.93371	P;P;P;P	0.44946	0.773;0.846;0.731;0.773	B;B;B;B	0.43274	0.366;0.386;0.414;0.366	T	0.42565	-0.9444	10	0.30854	T	0.27	-26.517	15.71	0.77620	0.1458:0.8542:0.0:0.0	.	450;451;230;451	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	H	451;451;450;230;255;281;101;101	ENSP00000361214:P451H;ENSP00000384796:P451H;ENSP00000361215:P230H;ENSP00000385804:P255H;ENSP00000451376:P281H;ENSP00000441201:P101H;ENSP00000440377:P101H	ENSP00000361214:P451H	P	+	2	0	NRG3	84723591	0.837000	0.29446	0.997000	0.53966	0.996000	0.88848	2.547000	0.45786	2.880000	0.98712	0.650000	0.86243	CCC	.		0.502	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		A	84733611	C	A	84733611	3	1	10	1	0	0	0	0	1	0	0	0	10688	623	22	3	1546	3	NRG3	10	84733611	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13715079	84733611	50801136	225	2551											
LRIT2	340745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	85982398	85982398	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcagcaggtatggccagctCtgacagagcagtgtcttctc	13	11	3	2	rs371062772		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:85982398C>A	ENST00000372113.4	-	3	936	c.931G>T	c.(931-933)Gag>Tag	p.E311*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.E321*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	311	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATGGCCAGCTCTGACAGAGCA	0.473																																					p.E311X		.											.	LRIT2-92	0			c.G931T						.						62	56	58					10																	85982398		2203	4300	6503	SO:0001587	stop_gained	340745	exon3			CCAGCTCTGACAG		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.931G>T	10.37:g.85982398C>A	ENSP00000361185:p.Glu311*	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	364	137	NM_001017924	0	0	0	0	0	B7ZME6	Nonsense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784969	0.49997	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.52	1.34	0.21922	.	0.554796	0.19730	N	0.107362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.5193	0.50541	0.0:0.6837:0.2408:0.0755	.	.	.	.	X	311;321	.	ENSP00000361185:E311X	E	-	1	0	LRIT2	85972378	0.881000	0.30235	0.059000	0.19551	0.207000	0.24258	1.592000	0.36676	-0.022000	0.13986	0.557000	0.71058	GAG	.		0.473	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		A	85982398	C	A	85982398	4	1	10	1	0	0	0	0	0	1	0	0	8983	922	32	3	725	3	LRIT2	10	85982398	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1248787	85982398	49552349	226	2552											
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	96084321	96084321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagctaaaggagcaggtGcaggtaaagtttaaagttat	11	4	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:96084321G>A	ENST00000371380.3	+	30	6952	c.6717G>A	c.(6715-6717)gtG>gtA	p.V2239V	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.V1931V|PLCE1_ENST00000260766.3_Silent_p.V2239V|PLCE1_ENST00000371385.3_Silent_p.V1931V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2239					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAGCAGGTGCAGGTAAAGT	0.423																																					p.V2239V		.											.	PLCE1-229	0			c.G6717A						.						89	88	88					10																	96084321		1882	4113	5995	SO:0001819	synonymous_variant	51196	exon31			GCAGGTGCAGGTA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6717G>A	10.37:g.96084321G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	90	33	NM_016341	0	0	0	0	0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			.		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		A	96084321	G	A	96084321	2	1	10	1	0	0	0	0	0	0	0	1	12073	1306	46	3		3	PLCE1	10	96084321	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	10101923	96084321	39450426	227	2553											
HSPA12A	259217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118451896	118451896	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatgaactgcttggccGgctgcttccagatggcaggc	13	12	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:118451896G>C	ENST00000369209.3	-	6	733	c.629C>G	c.(628-630)cCg>cGg	p.P210R		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	210						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)		CTGCTTGGCCGGCTGCTTCCA	0.582																																					p.P210R		.											.	HSPA12A-206	0			c.C629G						.						118	130	126					10																	118451896		2197	4300	6497	SO:0001583	missense	259217	exon6			TTGGCCGGCTGCT	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.629C>G	10.37:g.118451896G>C	ENSP00000358211:p.Pro210Arg	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	141	57	NM_025015	0	0	1	1	0		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076163	0.94000	.	.	ENSG00000165868	ENST00000369209	T	0.03663	3.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	L	0.33485	1.01	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.01078	-1.1459	10	0.72032	D	0.01	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	210	O43301	HS12A_HUMAN	R	210	ENSP00000358211:P210R	ENSP00000358211:P210R	P	-	2	0	HSPA12A	118441886	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	9.339000	0.96797	2.755000	0.94549	0.655000	0.94253	CCG	.		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		C	118451896	G	C	118451896	3	2	10	1	0	0	0	0	1	0	0	0	7431	1116	39	2	1426	2	HSPA12A	10	118451896	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	22367575	118451896	17082851	228	2554											
C10orf120	399814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	124457937	124457937	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgtagttccttgagcattCtgcattcttcctcttgcttg	7	11	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:124457937C>G	ENST00000329446.4	-	3	351	c.320G>C	c.(319-321)aGa>aCa	p.R107T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	107										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTGAGCATTCTGCATTCTTC	0.423																																					p.R107T		.											.	C10orf120-91	0			c.G320C						.						227	237	233					10																	124457937		2203	4300	6503	SO:0001583	missense	399814	exon3			AGCATTCTGCATT		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.320G>C	10.37:g.124457937C>G	ENSP00000331012:p.Arg107Thr	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	184	68	NM_001010912	0	0	0	0	0	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.310|4.310	0.056799|0.056799	0.08339|0.08339	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000432000|ENST00000329446	.|T	.|0.33654	.|1.4	4.82|4.82	1.01|1.01	0.19927|0.19927	.|.	.|0.522668	.|0.17394	.|N	.|0.175814	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.15492|0.15492	-1.0435|-1.0435	5|10	.|0.62326	.|D	.|0.03	-14.8206|-14.8206	3.6543|3.6543	0.08215|0.08215	0.0:0.2083:0.1935:0.5982|0.0:0.2083:0.1935:0.5982	.|.	.|107	.|Q5SQS8	.|CJ120_HUMAN	Q|T	100|107	.|ENSP00000331012:R107T	.|ENSP00000331012:R107T	E|R	-|-	1|2	0|0	C10orf120|C10orf120	124447927|124447927	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.025000|0.025000	0.11179|0.11179	0.045000|0.045000	0.14013|0.14013	0.088000|0.088000	0.17205|0.17205	-0.300000|-0.300000	0.09419|0.09419	GAA|AGA	.		0.423	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		G	124457937	C	G	124457937	3	3	10	1	0	0	0	0	1	0	0	0	1595	913	32	3	691	3	C10orf120	10	124457937	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	6006041	124457937	11076810	229	2555											
MKI67	4288	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	129903549	129903549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggggttgggcttttccCttaggagttcttggctgcct	13	9	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:129903549C>T	ENST00000368654.3	-	13	6930	c.6555G>A	c.(6553-6555)aaG>aaA	p.K2185K	MKI67_ENST00000368653.3_Silent_p.K1825K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2185	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCTTTTCCCTTAGGAGTTC	0.478																																					p.K2185K		.											.	MKI67-519	0			c.G6555A						.						156	151	153					10																	129903549		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			TTTTCCCTTAGGA	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.6555G>A	10.37:g.129903549C>T		Somatic	167	1		WXS	Illumina GAIIx	Phase_I	164	52	NM_002417	0	0	2	8	6	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			.		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129903549	C	T	129903549	2	4	10	1	0	0	0	0	0	0	0	1	9636	680	24	3		3	MKI67	10	129903549	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5445612	129903549	5631198	230	2556											
ZNF511	118472	hgsc.bcm.edu	37	chr10	135122507	135122507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccggggcggcggagccGctgcctgtagagcgggatcc	20	13	0	1	rs3008357	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:135122507G>A	ENST00000359035.3	+	1	63	c.60G>A	c.(58-60)ccG>ccA	p.P20P	ZNF511_ENST00000368554.4_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000368563.2_5'UTR|ZNF511_ENST00000361518.5_Silent_p.P20P|TUBGCP2_ENST00000470829.1_5'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	20					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)		CGGCGGAGCCGCTGCCTGTAG	0.781													A|||	1022	0.204073	0.3828	0.2176	5008	,	,		7110	0.0635		0.1511	False		,,,				2504	0.1524				p.P20P		.											.	ZNF511-90	0			c.G60A						.						2	2	2					10																	135122507		1305	2802	4107	SO:0001819	synonymous_variant	118472	exon1			GGAGCCGCTGCCT	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.60G>A	10.37:g.135122507G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_145806	0	0	1	1	0	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37																																																																																				G|0.816;A|0.184		0.781	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		A	135122507	G	A	135122507	2	1	10	1	0	0	0	0	0	0	0	1	18003	1074	38	1		1	ZNF511	10	135122507	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5218958	135122507	412240	231	2557											
ECHS1	1892	hgsc.bcm.edu	37	chr10	135186834	135186834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggacacgcagggcggCcatggctctctggactcctc	13	15	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:135186834C>A	ENST00000368547.3	-	1	359	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	2					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CGCAGGGCGGCCATGGCTCTC	0.751																																					p.A2S	GBM(132;1720 1771 5373 10277 21402)	.											.	ECHS1-90	0			c.G4T						.						9	14	12					10																	135186834		1957	3801	5758	SO:0001583	missense	1892	exon1			GGGCGGCCATGGC		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.4G>T	10.37:g.135186834C>A	ENSP00000357535:p.Ala2Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	41	28	NM_004092	0	0	4	19	15	O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695011	0.48202	.	.	ENSG00000127884	ENST00000368547	T	0.63096	-0.02	3.75	2.84	0.33178	.	.	.	.	.	T	0.38719	0.1051	N	0.08118	0	0.22656	N	0.998886	B	0.21520	0.057	B	0.15052	0.012	T	0.20009	-1.0288	9	0.28530	T	0.3	.	9.1411	0.36903	0.0:0.8882:0.0:0.1118	.	2	P30084	ECHM_HUMAN	S	2	ENSP00000357535:A2S	ENSP00000357535:A2S	A	-	1	0	ECHS1	135036824	0.998000	0.40836	0.629000	0.29254	0.011000	0.07611	2.722000	0.47269	0.909000	0.36697	0.493000	0.49557	GCC	.		0.751	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			A	135186834	C	A	135186834	3	1	10	1	0	0	0	0	1	0	0	0	4910	739	26	3	900	3	ECHS1	10	135186834	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	64327	135186834	347913	232	2558											
MUC2	4583	bcgsc.ca	37	chr11	1093022	1093022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatcaccaccaccactaCggtgaccccaaccccaacac	3	22	1	1	rs200733547		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093022C>T	ENST00000441003.2	+	30	4868	c.4841C>T	c.(4840-4842)aCg>aTg	p.T1614M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_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)	accaccactacggtgacccca	0.627																																					p.T1614M		.											.	MUC2-90	0			c.C4841T						.						83	121	107					11																	1093022		1841	3470	5311	SO:0001583	missense	4583	exon30			CCACTACGGTGAC	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.4841C>T	11.37:g.1093022C>T	ENSP00000415183:p.Thr1614Met	Somatic	106	2		WXS	Illumina GAIIx	Phase_I	165	22	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.663	-0.510872	0.04231	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.35	-0.0591	0.13794	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.09310	N	1	D	0.71674	0.998	B	0.44085	0.44	T	0.28332	-1.0047	8	0.36615	T	0.2	.	4.6948	0.12799	0.525:0.475:0.0:0.0	.	1614	E7EUV1	.	M	1614	ENSP00000415183:T1614M	ENSP00000415183:T1614M	T	+	2	0	MUC2	1083022	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.680000	0.05197	0.732000	0.32470	0.121000	0.15741	ACG	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093022	C	T	1093022	3	4	10	1	0	0	0	0	1	0	0	0	10013	536	19	1	4959	1	MUC2	11	1093022	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		1093022	133913494	233	2559			1	3		4	4	278	N	G_CC_C	1.073108e-08
MUC2	4583	bcgsc.ca	37	chr11	1093104	1093105	+	Missense_Mutation	DNP	CC	CC	AG													accactacggtgaccccaacCccaacacccaccggcacaca							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093104_1093105CC>AG	ENST00000441003.2	+	30	4950_4951	c.4923_4924CC>AG	c.(4921-4926)acCCca>acAGca	p.P1642A	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1609A	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)	tgaccccaaccccaacacccac	0.634																																					p.P1642A		.											.	MUC2-90	0			c.C4924G						.																																			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	Exception_encountered	11.37:g.1093104_1093105delinsAG	ENSP00000415183:p.Pro1642Ala	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	176	0	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	DNP	ENST00000441003.2	37																																																																																				.		0.634	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		AG	1093105	CC	AG	1093104	3	1	10	1	0	0	0	0	1	0	0	0	10013	610	22	3	5041	3	MUC2	11	1093104	Missense_Mutation	DNP	CC	TCGA-OR-A5JB-01A-11D-A29I-10	82	1093104	133913412	234	2560			1	3		4	4	278	N	G_CC_C	1.073108e-08
MUC2	4583	bcgsc.ca	37	chr11	1093254	1093254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaaccccaacacccacCggcacacagaccccaacatc	3	23	0	1	rs111164664		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093254C>T	ENST00000441003.2	+	30	5100	c.5073C>T	c.(5071-5073)acC>acT	p.T1691T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1658T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	caacacccaccggcacacaga	0.632																																					p.T1691T		.											.	MUC2-90	0			c.C5073T						.						100	145	129					11																	1093254		1824	3303	5127	SO:0001819	synonymous_variant	4583	exon30			ACCCACCGGCACA	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5073C>T	11.37:g.1093254C>T		Somatic	86	4		WXS	Illumina GAIIx	Phase_I	149	12	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093254	C	T	1093254	2	4	10	1	0	0	0	0	0	0	0	1	10013	639	23	1		1	MUC2	11	1093254	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	150	1093254	133913262	235	2561			1	3		4	4	278	N	G_CC_C	1.073108e-08
MUC2	4583	broad.mit.edu	37	chr11	1093299	1093299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaccaccaccactacGgtgaccccaaccccaacacc	3	23	1	1	rs113492997		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093299G>A	ENST00000441003.2	+	30	5145	c.5118G>A	c.(5116-5118)acG>acA	p.T1706T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1673T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccactacggtgaccccaa	0.637																																					p.T1706T		.											.	MUC2-90	0			c.G5118A						.																																			SO:0001819	synonymous_variant	4583	exon30			CACTACGGTGACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5118G>A	11.37:g.1093299G>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	163	6	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093299	G	A	1093299	2	1	10	1	0	0	0	0	0	0	0	1	10013	1103	39	1		1	MUC2	11	1093299	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	45	1093299	133913217	236	2562			1	3		4	4	278	N	G_CC_C	1.073108e-08
MUC5B	727897	hgsc.bcm.edu;bcgsc.ca	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	128	16	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	10	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	160681	1253980	133752536	237	2563											
BRSK2	9024	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	1472024	1472024	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccgccggaaactgcaaGgtgagtgtctgcccggaggc	14	13	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1472024G>T	ENST00000528841.1	+	14	1879	c.1495G>T	c.(1495-1497)Gtt>Ttt	p.V499F	BRSK2_ENST00000308230.5_Splice_Site_p.V521F|BRSK2_ENST00000308219.9_Splice_Site_p.V499F|BRSK2_ENST00000382179.1_Splice_Site_p.V545F|BRSK2_ENST00000528710.1_Splice_Site_p.V439F|BRSK2_ENST00000526678.1_Splice_Site_p.V521F|BRSK2_ENST00000531197.1_Splice_Site_p.V499F|BRSK2_ENST00000544817.1_Splice_Site_p.V194F			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	499					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GAAACTGCAAGGTGAGTGTCT	0.697																																					p.V545F		.											.	BRSK2-333	0			c.G1633T						.						15	20	18					11																	1472024		2040	4191	6231	SO:0001630	splice_region_variant	9024	exon14			CTGCAAGGTGAGT	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1495+1G>T	11.37:g.1472024G>T		Somatic	186	1		WXS	Illumina GAIIx	Phase_I	361	155	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.027532|3.027532	0.54683|0.54683	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000533606|ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	.|T;T;T;T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	4.53|4.53	3.54|3.54	0.40534|0.40534	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.69672|0.69672	0.3137|0.3137	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.997;0.994	.|D;D;D;D;D	.|0.91635	.|0.999;0.984;0.999;0.947;0.943	T|T	0.71527|0.71527	-0.4566|-0.4566	5|10	.|0.44086	.|T	.|0.13	.|.	13.2324|13.2324	0.59951|0.59951	0.0:0.0:0.8404:0.1596|0.0:0.0:0.8404:0.1596	.|.	.|521;545;499;499;499	.|Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.|.;.;.;BRSK2_HUMAN;.	I|F	37|499;499;521;499;521;439;545;194	.|ENSP00000310697:V499F;ENSP00000431152:V499F;ENSP00000310805:V521F;ENSP00000432000:V499F;ENSP00000433370:V521F;ENSP00000433235:V439F;ENSP00000371614:V545F;ENSP00000445168:V194F	.|ENSP00000310697:V499F	S|V	+|+	2|1	0|0	BRSK2|BRSK2	1428600|1428600	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.016000|0.016000	0.09150|0.09150	6.279000|6.279000	0.72620|0.72620	2.074000|2.074000	0.62210|0.62210	0.555000|0.555000	0.69702|0.69702	AGT|GTT	.		0.697	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	Missense_Mutation	T	1472024	G	T	1472024	5	4	10	1	0	0	0	0	0	0	1	0	1528	1014	35	3	1549	3	BRSK2	11	1472024	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	218044	1472024	133534492	238	2564											
NUP98	4928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	3752722	3752722	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtttgtaaagcctttggccgGactctagtggcagggcgggg	17	8	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:3752722G>T	ENST00000324932.7	-	14	2049	c.1629C>A	c.(1627-1629)gtC>gtA	p.V543V	NUP98_ENST00000359171.4_Silent_p.V543V|NUP98_ENST00000355260.3_Silent_p.V543V|NUP98_ENST00000397004.4_Silent_p.V543V|NUP98_ENST00000397007.4_Silent_p.V560V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	560					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)	p.R542fs*26(1)		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)		CCTTTGGCCGGACTCTAGTGG	0.483			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																p.V560V		.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	NUP98-703	1	Deletion - Frameshift(1)	breast(1)	c.C1680A						.						177	185	182					11																	3752722		2201	4298	6499	SO:0001819	synonymous_variant	4928	exon14			TGGCCGGACTCTA	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.1629C>A	11.37:g.3752722G>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	133	56	NM_005387	0	0	1	2	1	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.11|10.11	1.260861|1.260861	0.23051|0.23051	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000527104|ENST00000529379	.|.	.|.	.|.	5.47|5.47	-3.54|-3.54	0.04653|0.04653	.|.	.|.	.|.	.|.	.|.	T|T	0.37732|0.37732	0.1014|0.1014	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	-0.9850|-0.9850	4|4	.|.	.|.	.|.	.|.	1.0259|1.0259	0.01527|0.01527	0.4322:0.1604:0.2006:0.2068|0.4322:0.1604:0.2006:0.2068	.|.	.|.	.|.	.|.	T|Y	163|145	.|.	.|.	P|S	-|-	1|2	0|0	NUP98|NUP98	3709298|3709298	0.758000|0.758000	0.28405|0.28405	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	-0.121000|-0.121000	0.10643|0.10643	-0.652000|-0.652000	0.05408|0.05408	0.467000|0.467000	0.42956|0.42956	CCG|TCC	.		0.483	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3752722	G	T	3752722	2	4	10	1	0	0	0	0	0	0	0	1	10812	1161	41	3		3	NUP98	11	3752722	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2280698	3752722	131253794	239	2565											
OR51E1	143503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	4674519	4674519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgttcatattctatGtacctttcattggattgtcc	8	8	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:4674519G>T	ENST00000396952.5	+	2	1413	c.763G>T	c.(763-765)Gta>Tta	p.V255L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATATTCTATGTACCTTTCAT	0.498																																					p.V255L		.											.	OR51E1-114	0			c.G763T						.						230	219	223					11																	4674519		2201	4298	6499	SO:0001583	missense	143503	exon2			TTCTATGTACCTT	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.763G>T	11.37:g.4674519G>T	ENSP00000380155:p.Val255Leu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	147	41	NM_152430	0	0	0	0	0	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532110	0.64972	.	.	ENSG00000180785	ENST00000396952	T	0.67171	-0.25	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.125571	0.36066	N	0.002807	T	0.57592	0.2064	L	0.49640	1.575	0.80722	D	1	B	0.16166	0.016	B	0.16289	0.015	T	0.59311	-0.7478	10	0.72032	D	0.01	.	7.5219	0.27633	0.1725:0.0:0.8275:0.0	.	254	Q8TCB6	O51E1_HUMAN	L	255	ENSP00000380155:V255L	ENSP00000380155:V255L	V	+	1	0	OR51E1	4631095	0.074000	0.21230	1.000000	0.80357	0.919000	0.55068	1.196000	0.32198	2.709000	0.92574	0.655000	0.94253	GTA	.		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		T	4674519	G	T	4674519	3	4	10	1	0	0	0	0	1	0	0	0	11133	1377	48	3	765	3	OR51E1	11	4674519	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	921797	4674519	130331997	240	2566											
OR52N2	390077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	5842285	5842285	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctcgtcacaaagccttCagcacctgcacatctcacat	6	15	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:5842285C>T	ENST00000317037.2	+	1	742	c.720C>T	c.(718-720)ttC>ttT	p.F240F	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAAGCCTTCAGCACCTGCA	0.418																																					p.F240F		.											.	OR52N2-70	0			c.C720T						.						262	208	226					11																	5842285		2201	4296	6497	SO:0001819	synonymous_variant	390077	exon1			AGCCTTCAGCACC	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.720C>T	11.37:g.5842285C>T		Somatic	205	1		WXS	Illumina GAIIx	Phase_I	294	101	NM_001005174	0	0	0	0	0	Q6IFF9	Silent	SNP	ENST00000317037.2	37	CCDS31399.1																																																																																			.		0.418	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		T	5842285	C	T	5842285	2	4	10	1	0	0	0	0	0	0	0	1	11167	825	29	3		3	OR52N2	11	5842285	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1167766	5842285	129164231	241	2567											
OR52E6	390078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5862980	5862980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actctgctcagtttggatcaCaaagaagatagcagcatttc	8	9	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:5862980C>A	ENST00000329322.5	-	1	147	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.V54L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTGGATCACAAAGAAGATA	0.478																																					p.V50L		.											.	OR52E6-68	0			c.G148T						.						120	120	120					11																	5862980		2201	4296	6497	SO:0001583	missense	390078	exon1			GGATCACAAAGAA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.148G>T	11.37:g.5862980C>A	ENSP00000328878:p.Val50Leu	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	257	61	NM_001005167	0	0	0	0	0	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229895	0.22542	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.03004	4.08;4.08	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.122640	0.36167	N	0.002741	T	0.03434	0.0099	L	0.36672	1.1	0.22989	N	0.998467	B	0.20164	0.042	B	0.23852	0.049	T	0.41963	-0.9479	10	0.20046	T	0.44	.	8.1382	0.31067	0.0:0.8862:0.0:0.1138	.	50	Q96RD3	O52E6_HUMAN	L	50;54	ENSP00000328878:V50L;ENSP00000369279:V54L	ENSP00000328878:V50L	V	-	1	0	OR52E6	5819556	0.000000	0.05858	0.738000	0.30950	0.631000	0.37964	-0.264000	0.08658	1.857000	0.53885	0.551000	0.68910	GTG	.		0.478	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		A	5862980	C	A	5862980	3	1	10	1	0	0	0	0	1	0	0	0	11156	478	17	3	795	3	OR52E6	11	5862980	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	20695	5862980	129143536	242	2568											
OR52L1	338751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6007764	6007764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccagagccatggccacaaGtacccctgactccatggagg	10	14	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6007764G>T	ENST00000332249.4	-	1	451	c.397C>A	c.(397-399)Ctt>Att	p.L133I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCCACAAGTACCCCTGAC	0.532																																					p.L133I	Melanoma(121;653 1666 10547 22796 51255)	.											.	OR52L1-91	0			c.C397A						.						44	45	44					11																	6007764		2100	4234	6334	SO:0001583	missense	338751	exon1			CCACAAGTACCCC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.397C>A	11.37:g.6007764G>T	ENSP00000330338:p.Leu133Ile	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	242	75	NM_001005173	0	0	0	0	0	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577032	0.45902	.	.	ENSG00000183313	ENST00000332249	T	0.06371	3.31	3.5	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	N	0.002771	T	0.26048	0.0635	M	0.89968	3.075	0.24497	N	0.994274	D	0.69078	0.997	D	0.72625	0.978	T	0.02301	-1.1180	10	0.66056	D	0.02	.	9.1727	0.37093	0.1155:0.0:0.8845:0.0	.	133	Q8NGH7	O52L1_HUMAN	I	133	ENSP00000330338:L133I	ENSP00000330338:L133I	L	-	1	0	OR52L1	5964340	0.877000	0.30153	0.988000	0.46212	0.898000	0.52572	1.249000	0.32839	1.662000	0.50781	0.313000	0.20887	CTT	.		0.532	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		T	6007764	G	T	6007764	3	4	10	1	0	0	0	0	1	0	0	0	11164	1029	36	3	596	3	OR52L1	11	6007764	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	144784	6007764	128998752	243	2569											
SMPD1	6609	hgsc.bcm.edu	37	chr11	6413009	6413009	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggcctgccgcccgcAtcccggccaggtgccggata	14	16	1	0	rs2682091	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6413009A>C	ENST00000342245.4	+	2	882	c.714A>C	c.(712-714)gcA>gcC	p.A238A	SMPD1_ENST00000299397.3_Silent_p.A238A|SMPD1_ENST00000527275.1_Silent_p.A237A|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.A238A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TGCCGCCCGCATCCCGGCCAG	0.667																																					p.A238A		.											.	SMPD1-90	0			c.A714C						.						44	53	50					11																	6413009		2201	4296	6497	SO:0001819	synonymous_variant	6609	exon2			GCCCGCATCCCGG	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.714A>C	11.37:g.6413009A>C		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	62	5	NM_000543	0	0	15	16	1	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	CCDS44531.1																																																																																			A|0.960;G|0.040		0.667	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		C	6413009	A	C	6413009	2	2	10	1	0	0	0	0	0	0	0	1	14849	204	8	5		5	SMPD1	11	6413009	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	405245	6413009	128593507	244	2570											
DNHD1	144132	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	6554962	6554962	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagcgaatggaatacGtacgggcactccacgaactc	13	10	0	0	rs375312511		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6554962G>C	ENST00000527990.2	+	12	2557	c.2557G>C	c.(2557-2559)Gta>Cta	p.V853L	DNHD1_ENST00000254579.6_Missense_Mutation_p.V853L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	853					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGGAATACGTACGGGCACT	0.527																																					p.V853L		.											.	DNHD1-24	0			c.G2557C						.						99	88	91					11																	6554962		692	1591	2283	SO:0001583	missense	144132	exon14			GAATACGTACGGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2557G>C	11.37:g.6554962G>C	ENSP00000436180:p.Val853Leu	Somatic	245	1		WXS	Illumina GAIIx	Phase_I	329	122	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363045	0.24684	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.33865	1.39;1.39	5.92	-2.6	0.06190	.	.	.	.	.	T	0.18002	0.0432	N	0.19112	0.55	0.09310	N	0.999998	B	0.19706	0.038	B	0.18561	0.022	T	0.31641	-0.9936	9	0.15499	T	0.54	.	6.386	0.21561	0.304:0.0:0.5341:0.1619	.	853	Q96M86	DNHD1_HUMAN	L	853;853;119	ENSP00000254579:V853L;ENSP00000436180:V853L	ENSP00000254579:V853L	V	+	1	0	DNHD1	6511538	0.016000	0.18221	0.422000	0.26621	0.185000	0.23345	0.039000	0.13884	-0.320000	0.08640	-0.290000	0.09829	GTA	.		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6554962	G	C	6554962	3	2	10	1	0	0	0	0	1	0	0	0	4682	1145	40	2	2612	2	DNHD1	11	6554962	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	141953	6554962	128451554	245	2571											
CALCA	796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	14991506	14991506	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccctctctctcttgctcctGctccagctcactggccttca	6	19	4	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:14991506G>C	ENST00000486207.1	-	2	210	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	CALCA_ENST00000396372.2_Missense_Mutation_p.Q68E|CALCA_ENST00000361010.3_Missense_Mutation_p.Q68E|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.Q68E|CALCA_ENST00000331587.4_Missense_Mutation_p.Q68E			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	68					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TCTTGCTCCTGCTCCAGCTCA	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q68E		.											.	CALCA-514	0			c.C202G						.						56	58	58					11																	14991506		2200	4294	6494	SO:0001583	missense	796	exon3			GCTCCTGCTCCAG	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.202C>G	11.37:g.14991506G>C	ENSP00000417833:p.Gln68Glu	Somatic	252	0	699	WXS	Illumina GAIIx	Phase_I	346	105	NM_001033953	0	0	0	0	0	Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	7.510	0.654481	0.14580	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	1.77	0.751	0.18392	.	0.125955	0.53938	D	0.000042	T	0.35537	0.0935	M	0.86953	2.85	0.31581	N	0.6551	P;B	0.42757	0.789;0.029	P;B	0.46208	0.507;0.058	T	0.43718	-0.9374	10	0.62326	D	0.03	-11.1442	5.7691	0.18243	0.0:0.3692:0.6308:0.0	.	68;68	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	E	68	ENSP00000417833:Q68E;ENSP00000354286:Q68E;ENSP00000352663:Q68E;ENSP00000331746:Q68E;ENSP00000379657:Q68E	ENSP00000331746:Q68E	Q	-	1	0	CALCA	14948082	1.000000	0.71417	0.009000	0.14445	0.015000	0.08874	4.684000	0.61686	0.263000	0.21812	0.655000	0.94253	CAG	.		0.637	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		C	14991506	G	C	14991506	3	2	10	1	0	0	0	0	1	0	0	0	2582	1328	46	3	395	3	CALCA	11	14991506	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	8436544	14991506	120015010	246	2572											
LUZP2	338645	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	25071584	25071584	+	Splice_Site	DEL	C	C	-													ctctcttcgtctcttttaagCctcaacaaagtgcttctgga							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:25071584delC	ENST00000336930.6	+	10	832	c.766delC	c.(766-768)cct>ct	p.P256fs	LUZP2_ENST00000533227.1_Splice_Site_p.P170fs			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	256						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTTTTAAGCCTCAACAAAG	0.353																																					p.P256fs		.											.	LUZP2-92	0			c.766delC						.						79	78	78					11																	25071584		2203	4300	6503	SO:0001630	splice_region_variant	338645	exon10			TTTAAGCCTCAAC	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.766-1C>-	11.37:g.25071584delC		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	52	21	NM_001009909	0	0	0	0	0	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Frame_Shift_Del	DEL	ENST00000336930.6	37	CCDS31446.1																																																																																			.		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Frame_Shift_Del	-	25071584	C	-	25071584	8	5	10	1	0	1	0	1	0	0	1	0	9122	753	26	0	804	0	LUZP2	11	25071584	Splice_Site	DEL	C	TCGA-OR-A5JB-01A-11D-A29I-10	10080078	25071584	109934932	247	2573											
FIBIN	387758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	27016195	27016195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactacttcgtgcccgatgGggactatgaggagaacgatg	13	10	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:27016195G>T	ENST00000318627.2	+	1	568	c.122G>T	c.(121-123)gGg>gTg	p.G41V		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	41						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GTGCCCGATGGGGACTATGAG	0.597																																					p.G41V		.											.	FIBIN-68	0			c.G122T						.						70	67	68					11																	27016195		2203	4299	6502	SO:0001583	missense	387758	exon1			CCGATGGGGACTA	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.122G>T	11.37:g.27016195G>T	ENSP00000321962:p.Gly41Val	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	165	66	NM_203371	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318627.2	37	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743948	0.89663	.	.	ENSG00000176971	ENST00000318627	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73920	-0.3830	9	0.87932	D	0	-30.964	19.2077	0.93739	0.0:0.0:1.0:0.0	.	41	Q8TAL6	FIBIN_HUMAN	V	41	.	ENSP00000321962:G41V	G	+	2	0	FIBIN	26972771	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.164000	0.94755	2.890000	0.99128	0.650000	0.86243	GGG	.		0.597	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		T	27016195	G	T	27016195	3	4	10	1	0	0	0	0	1	0	0	0	5907	1232	43	3	124	3	FIBIN	11	27016195	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1944611	27016195	107990321	248	2574											
HIPK3	10114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	33363182	33363182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaactgctcagtttggttGtggtgatgcttttcagcaga	13	6	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:33363182G>T	ENST00000303296.4	+	8	2152	c.1847G>T	c.(1846-1848)tGt>tTt	p.C616F	HIPK3_ENST00000525975.1_Missense_Mutation_p.C616F|HIPK3_ENST00000379016.3_Missense_Mutation_p.C616F|HIPK3_ENST00000456517.1_Missense_Mutation_p.C616F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	616					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGTTTGGTTGTGGTGATGCT	0.393																																					p.C616F		.											.	HIPK3-336	0			c.G1847T						.						249	219	229					11																	33363182		2202	4298	6500	SO:0001583	missense	10114	exon8			TTGGTTGTGGTGA	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1847G>T	11.37:g.33363182G>T	ENSP00000304226:p.Cys616Phe	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	120	40	NM_001048200	0	0	1	1	0	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295283	0.81025	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.69;0.66;0.69;0.69	5.14	5.14	0.70334	.	0.097896	0.45606	D	0.000360	T	0.62454	0.2429	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.64042	0.921;0.921	T	0.63175	-0.6696	10	0.62326	D	0.03	.	19.5639	0.95384	0.0:0.0:1.0:0.0	.	616;616	Q9H422-2;Q9H422	.;HIPK3_HUMAN	F	616	ENSP00000431710:C616F;ENSP00000304226:C616F;ENSP00000368301:C616F;ENSP00000398241:C616F	ENSP00000304226:C616F	C	+	2	0	HIPK3	33319758	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.865000	0.92300	2.786000	0.95864	0.644000	0.83932	TGT	.		0.393	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		T	33363182	G	T	33363182	3	4	10	1	0	0	0	0	1	0	0	0	7145	1377	48	3	1873	3	HIPK3	11	33363182	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6346987	33363182	101643334	249	2575											
PAMR1	25891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	35547114	35547114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagtgagccccaactgcGtccagcaacccagctccatc	8	16	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:35547114G>T	ENST00000378880.2	-	1	465	c.20C>A	c.(19-21)aCg>aAg	p.T7K	PAMR1_ENST00000532848.1_Intron|PAMR1_ENST00000378878.3_Missense_Mutation_p.T7K|PAMR1_ENST00000278360.3_Missense_Mutation_p.T7K|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	7						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CCCCAACTGCGTCCAGCAACC	0.632																																					p.T7K		.											.	PAMR1-70	0			c.C20A						.						100	80	87					11																	35547114		2202	4298	6500	SO:0001583	missense	25891	exon1			AACTGCGTCCAGC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.20C>A	11.37:g.35547114G>T	ENSP00000368158:p.Thr7Lys	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	112	26	NM_001001991	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	7.427	0.637859	0.14386	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000529303	D;D;D;D	0.90385	-2.24;-2.26;-2.45;-2.66	4.95	3.05	0.35203	.	2.012940	0.02297	N	0.070828	D	0.82697	0.5093	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.71504	-0.4573	10	0.87932	D	0	.	7.6864	0.28542	0.0832:0.0:0.7534:0.1634	.	7;7;7	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	K	7	ENSP00000278360:T7K;ENSP00000368158:T7K;ENSP00000368156:T7K;ENSP00000433024:T7K	ENSP00000278360:T7K	T	-	2	0	PAMR1	35503690	0.804000	0.28969	0.668000	0.29813	0.129000	0.20672	3.224000	0.51238	1.051000	0.40369	0.609000	0.83330	ACG	.		0.632	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		T	35547114	G	T	35547114	3	4	10	1	0	0	0	0	1	0	0	0	11452	1145	40	2	2241	2	PAMR1	11	35547114	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2183932	35547114	99459402	250	2576											
LRRC4C	57689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	40136500	40136500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtaagagaaaggagtaGtggttgctgcagtaacattc	12	4	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:40136500G>A	ENST00000278198.2	-	2	3306	c.1343C>T	c.(1342-1344)aCt>aTt	p.T448I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.T448I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T448I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T448I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	448					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAAGGAGTAGTGGTTGCTGC	0.468																																					p.T448I		.											.	LRRC4C-521	0			c.C1343T						.						165	155	158					11																	40136500		2203	4300	6503	SO:0001583	missense	57689	exon7			GGAGTAGTGGTTG	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1343C>T	11.37:g.40136500G>A	ENSP00000278198:p.Thr448Ile	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	227	77	NM_001258419	0	0	0	0	0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090270	0.20390	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.84	5.84	0.93424	.	0.109676	0.64402	D	0.000012	T	0.44912	0.1316	N	0.22421	0.69	0.33297	D	0.564254	B	0.06786	0.001	B	0.11329	0.006	T	0.51442	-0.8705	10	0.35671	T	0.21	.	14.6072	0.68489	0.0:0.0:0.8453:0.1547	.	448	Q9HCJ2	LRC4C_HUMAN	I	448	ENSP00000278198:T448I;ENSP00000436976:T448I;ENSP00000437132:T448I;ENSP00000434761:T448I	ENSP00000278198:T448I	T	-	2	0	LRRC4C	40093076	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.810000	0.55613	2.760000	0.94817	0.655000	0.94253	ACT	.		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		A	40136500	G	A	40136500	3	1	10	1	0	0	0	0	1	0	0	0	9043	1029	36	3	583	3	LRRC4C	11	40136500	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4589386	40136500	94870016	251	2577											
OR4P4	81300	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55405833	55405833	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctatctacactggacCatggaaaaaagcaataatag	7	7	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:55405833C>A	ENST00000314612.2	+	0	0					NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4							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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACACTGGACCATGGAAAAAA	0.303																																					.		.											.	OR4P4-68	0			.						.						102	102	102					11																	55405833		2183	4020	6203	SO:0001631	upstream_gene_variant	81300	.			CTGGACCATGGAA	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300		11.37:g.55405833C>A	Exception_encountered	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	19	11	.	0	0	0	0	0		Splice_Site	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																			.		0.303	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		A	55405833	C	A	55405833	1	1	10	0	1	0	0	0	0	0	0	0	11119	609	21	3		3	OR4P4	11	55405833	5'Flank	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	15269333	55405833	79600683	252	2578											
OR10W1	81341	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	58035112	58035112	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgactgtagggtgttggcCaggatatggggcaccaccac	14	10	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:58035112C>A	ENST00000395079.2	-	1	620	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGGTGTTGGCCAGGATATGGG	0.512																																					p.L73L		.											.	OR10W1-69	0			c.G219T						.						94	84	88					11																	58035112		2201	4295	6496	SO:0001819	synonymous_variant	81341	exon1			GTTGGCCAGGATA	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.219G>T	11.37:g.58035112C>A		Somatic	100	1		WXS	Illumina GAIIx	Phase_I	130	49	NM_207374	0	0	0	0	0	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	CCDS7968.1																																																																																			.		0.512	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		A	58035112	C	A	58035112	2	1	10	1	0	0	0	0	0	0	0	1	10960	581	21	3		3	OR10W1	11	58035112	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2629279	58035112	76971404	253	2579											
OR5B12	390191	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	58206694	58206694	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttataattaaaatatgaatcCtatagaggcctttgccttcc	5	8	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:58206694C>A	ENST00000302572.2	-	1	952	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATATGAATCCTATAGAGGCC	0.373																																					p.G311X		.											.	OR5B12-68	0			c.G931T						.						38	38	38					11																	58206694		2201	4295	6496	SO:0001587	stop_gained	390191	exon1			TGAATCCTATAGA	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.931G>T	11.37:g.58206694C>A	ENSP00000306657:p.Gly311*	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	25	10	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Nonsense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120394	0.06838	.	.	ENSG00000172362	ENST00000302572	.	.	.	4.29	-1.49	0.08718	.	0.435860	0.16973	N	0.192027	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-23.8452	3.8429	0.08922	0.2266:0.5205:0.1094:0.1435	.	.	.	.	X	311	.	ENSP00000306657:G311X	G	-	1	0	OR5B12	57963270	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.190000	0.03058	-0.706000	0.05028	-2.157000	0.00329	GGA	.		0.373	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		A	58206694	C	A	58206694	4	1	10	1	0	0	0	0	0	1	0	0	11187	690	24	3	17	3	OR5B12	11	58206694	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	171582	58206694	76799822	254	2580											
TMEM138	51524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61133533	61133533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcatccaggatattgcaGtcctcttcaacatcatcatc	5	13	4	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:61133533G>A	ENST00000278826.6	+	3	704	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	TMEM138_ENST00000381787.2_5'UTR|TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000542946.1_Missense_Mutation_p.V49I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	49					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGATATTGCAGTCCTCTTCAA	0.463																																					p.V49I		.											.	TMEM138-90	0			c.G145A						.						283	258	266					11																	61133533		2203	4299	6502	SO:0001583	missense	51524	exon3			ATTGCAGTCCTCT	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.145G>A	11.37:g.61133533G>A	ENSP00000278826:p.Val49Ile	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	152	47	NM_016464	0	0	25	55	30	A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	G	7.017	0.557955	0.13436	.	.	ENSG00000149483	ENST00000278826;ENST00000542946	D;D	0.86097	-2.07;-2.07	5.96	-10.7	0.00240	.	0.420133	0.26824	N	0.022319	T	0.38772	0.1053	N	0.00044	-2.455	0.43808	D	0.996365	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.53641	-0.8410	10	0.02654	T	1	-26.28	16.302	0.82825	0.4641:0.0:0.5359:0.0	.	49;49;49	B4E044;Q9NPI0-2;Q9NPI0	.;.;TM138_HUMAN	I	49	ENSP00000278826:V49I;ENSP00000445792:V49I	ENSP00000278826:V49I	V	+	1	0	TMEM138	60890109	0.126000	0.22350	0.000000	0.03702	0.965000	0.64279	0.809000	0.27168	-2.386000	0.00590	-0.157000	0.13467	GTC	.		0.463	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		A	61133533	G	A	61133533	3	1	10	1	0	0	0	0	1	0	0	0	16100	1029	36	3	151	3	TMEM138	11	61133533	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2926839	61133533	73872983	255	2581											
SCGB2A1	4246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61978049	61978049	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcaaccagtcacatagaactCtgaaaaactttggactgatg	7	9	3	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:61978049C>G	ENST00000244930.4	+	2	284	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	74					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						ACATAGAACTCTGAAAAACTT	0.418																																					p.L74V		.											.	SCGB2A1-90	0			c.C220G						.						99	97	98					11																	61978049		2202	4299	6501	SO:0001583	missense	4246	exon2			AGAACTCTGAAAA	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"Secretoglobins"	7051	protein-coding gene	gene with protein product	"lipophilin C", "mammaglobin B", "lacryglobin"	604398	"mammaglobin 2"	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.220C>G	11.37:g.61978049C>G	ENSP00000244930:p.Leu74Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	104	39	NM_002407	0	0	0	0	0		Missense_Mutation	SNP	ENST00000244930.4	37	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781855	0.31502	.	.	ENSG00000124939	ENST00000244930	T	0.44881	0.91	3.68	-0.552	0.11818	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	P	0.46395	0.877	P	0.44422	0.449	T	0.17501	-1.0367	8	0.49607	T	0.09	.	3.7688	0.08633	0.0:0.4313:0.2206:0.3481	.	74	O75556	SG2A1_HUMAN	V	74	ENSP00000244930:L74V	ENSP00000244930:L74V	L	+	1	2	SCGB2A1	61734625	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.141000	0.10327	-0.087000	0.12528	0.650000	0.86243	CTG	.		0.418	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		G	61978049	C	G	61978049	3	3	10	1	0	0	0	0	1	0	0	0	13944	912	32	3	226	3	SCGB2A1	11	61978049	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	844516	61978049	73028467	256	2582											
MUS81	80198	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	65631183	65631183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcccaggagaccaatcctAgagacccaggtgaagggccg	14	12	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:65631183A>G	ENST00000308110.4	+	9	1301	c.952A>G	c.(952-954)Aga>Gga	p.R318G	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R243G|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	318	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GACCAATCCTAGAGACCCAGG	0.642								Homologous recombination																													p.R318G		.											.	MUS81-227	0			c.A952G						.						60	65	64					11																	65631183		2201	4296	6497	SO:0001583	missense	80198	exon9			AATCCTAGAGACC		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.952A>G	11.37:g.65631183A>G	ENSP00000307853:p.Arg318Gly	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	340	114	NM_025128	0	0	1	4	3	Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.667|7.667	0.686107|0.686107	0.14973|0.14973	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.16196|.	2.36;2.59|.	5.53|5.53	1.79|1.79	0.24919|0.24919	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);|.	0.404650|.	0.27206|.	N|.	0.020423|.	T|.	0.22437|.	0.0541|.	N|N	0.20845|0.20845	0.615|0.615	0.24544|0.24544	N|N	0.994058|0.994058	B|.	0.21225|.	0.053|.	B|.	0.28465|.	0.09|.	T|.	0.25152|.	-1.0140|.	10|.	0.23302|.	T|.	0.38|.	-0.9767|-0.9767	6.2159|6.2159	0.20656|0.20656	0.525:0.3895:0.0855:0.0|0.525:0.3895:0.0855:0.0	.|.	318|.	Q96NY9|.	MUS81_HUMAN|.	G|W	243;318;318|242	ENSP00000432287:R243G;ENSP00000307853:R318G|.	ENSP00000307853:R318G|.	R|X	+|+	1|2	2|0	MUS81|MUS81	65387759|65387759	0.491000|0.491000	0.26019|0.26019	0.948000|0.948000	0.38648|0.38648	0.023000|0.023000	0.10783|0.10783	0.235000|0.235000	0.17948|0.17948	0.117000|0.117000	0.18138|0.18138	0.533000|0.533000	0.62120|0.62120	AGA|TAG	.		0.642	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		G	65631183	A	G	65631183	3	3	10	1	0	0	0	0	1	0	0	0	10026	412	15	4	986	4	MUS81	11	65631183	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	3653134	65631183	69375333	257	2583											
XRRA1	143570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	74563036	74563036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttgcgggcactatacctCgtgtatgggccaccagaggg	15	10	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:74563036C>T	ENST00000340360.6	-	13	1569	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.R138Q|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.R413L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CACTATACCTCGTGTATGGGC	0.547																																					p.R413Q		.											.	XRRA1-68	1	Substitution - Missense(1)	prostate(1)	c.G1238A						.						116	115	115					11																	74563036		1996	4165	6161	SO:0001583	missense	143570	exon13			ATACCTCGTGTAT	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1238G>A	11.37:g.74563036C>T	ENSP00000339918:p.Arg413Gln	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	164	68	NM_182969	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893170	0.91889	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.52526	0.66;1.42	6.07	3.9	0.45041	.	.	.	.	.	T	0.45836	0.1362	M	0.63428	1.95	0.80722	D	1	D;P;P	0.58970	0.984;0.576;0.777	P;B;B	0.44860	0.462;0.113;0.159	T	0.45804	-0.9236	9	0.42905	T	0.14	-16.5361	9.5643	0.39389	0.0:0.8189:0.0:0.1811	.	413;357;399	Q6P2D8;Q6P2D8-4;Q6P2D8-3	XRRA1_HUMAN;.;.	Q	413;138;399;357	ENSP00000339918:R413Q;ENSP00000319303:R138Q	ENSP00000319303:R138Q	R	-	2	0	XRRA1	74240684	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.431000	0.44775	1.582000	0.49881	0.585000	0.79938	CGA	.		0.547	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		T	74563036	C	T	74563036	3	4	10	1	0	0	0	0	1	0	0	0	17510	884	31	1	1168	1	XRRA1	11	74563036	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	8931853	74563036	60443480	258	2584											
FAT3	120114	ucsc.edu;bcgsc.ca	37	chr11	92534976	92534976	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtgtaccgagggaatGtgaaggagagcgacccaccg	16	8	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:92534976G>C	ENST00000298047.6	+	9	8814	c.8797G>C	c.(8797-8799)Gtg>Ctg	p.V2933L	FAT3_ENST00000409404.2_Missense_Mutation_p.V2933L|FAT3_ENST00000525166.1_Missense_Mutation_p.V2783L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2933	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGAGGGAATGTGAAGGAGAG	0.542										TCGA Ovarian(4;0.039)																											p.V2933L		.											.	FAT3-73	0			c.G8797C						.						91	92	92					11																	92534976		2021	4185	6206	SO:0001583	missense	120114	exon9			GGGAATGTGAAGG	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.8797G>C	11.37:g.92534976G>C	ENSP00000298047:p.Val2933Leu	Somatic	169	2		WXS	Illumina GAIIx	Phase_I	236	77	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.660345	0.88154	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	6.04	6.04	0.98038	.	.	.	.	.	T	0.71626	0.3362	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	P	0.59643	0.861	T	0.70781	-0.4779	9	0.52906	T	0.07	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2933	Q8TDW7-3	.	L	2933;2933;2783	ENSP00000298047:V2933L;ENSP00000387040:V2933L;ENSP00000432586:V2783L	ENSP00000298047:V2933L	V	+	1	0	FAT3	92174624	1.000000	0.71417	0.980000	0.43619	0.838000	0.47535	9.787000	0.99055	2.873000	0.98535	0.563000	0.77884	GTG	.		0.542	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92534976	G	C	92534976	3	2	10	1	0	0	0	0	1	0	0	0	5713	1377	48	3	8831	3	FAT3	11	92534976	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	17971940	92534976	42471540	259	2585											
SLC36A4	120103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	92881943	92881943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggattagggccaatgtGctgctgctcacagctccaac	12	12	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:92881943G>A	ENST00000326402.4	-	11	1405	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	SLC36A4_ENST00000529184.1_Silent_p.S290S	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	425					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGCCAATGTGCTGCTGCTCA	0.358																																					p.S425S		.											.	SLC36A4-93	0			c.C1275T						.						62	67	65					11																	92881943		2200	4298	6498	SO:0001819	synonymous_variant	120103	exon11			CAATGTGCTGCTG	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1275C>T	11.37:g.92881943G>A		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	201	81	NM_152313	0	0	22	33	11	Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	CCDS8291.1																																																																																			.		0.358	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			A	92881943	G	A	92881943	2	1	10	1	0	0	0	0	0	0	0	1	14641	1310	46	3		3	SLC36A4	11	92881943	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	346967	92881943	42124573	260	2586											
AASDHPPT	60496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	105950341	105950341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttcaactttaacatctctCatcaaggagactatgcagtg	6	9	4	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:105950341C>A	ENST00000278618.4	+	2	553	c.331C>A	c.(331-333)Cat>Aat	p.H111N	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	111	Coenzyme A binding.				macromolecule biosynthetic process (GO:0009059)|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)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TAACATCTCTCATCAAGGAGA	0.398																																					p.H111N		.											.	AASDHPPT-90	0			c.C331A						.						116	115	115					11																	105950341		2201	4299	6500	SO:0001583	missense	60496	exon2			ATCTCTCATCAAG	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.331C>A	11.37:g.105950341C>A	ENSP00000278618:p.His111Asn	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	134	44	NM_015423	0	0	12	17	5	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079914	0.94050	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.91	5.91	0.95273	4&apos (1);-phosphopantetheinyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87418	0.2380	9	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	111	Q9NRN7	ADPPT_HUMAN	N	46;46;111	.	ENSP00000278618:H111N	H	+	1	0	AASDHPPT	105455551	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.725000	0.84808	2.793000	0.96121	0.655000	0.94253	CAT	.		0.398	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		A	105950341	C	A	105950341	3	1	10	1	0	0	0	0	1	0	0	0	23	826	29	3	337	3	AASDHPPT	11	105950341	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13068398	105950341	29056175	261	2587											
C11orf87	399947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	109294764	109294764	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccggctggagaggcagccCcgggactctcccttctgcgc	13	17	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:109294764C>G	ENST00000327419.6	+	2	808	c.405C>G	c.(403-405)ccC>ccG	p.P135P	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	135						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGAGGCAGCCCCGGGACTCTC	0.721																																					p.P135P		.											.	C11orf87-92	0			c.C405G						.						48	56	53					11																	109294764		2200	4298	6498	SO:0001819	synonymous_variant	399947	exon2			GCAGCCCCGGGAC	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.405C>G	11.37:g.109294764C>G		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	67	31	NM_207645	0	0	0	0	0	B4E169	Silent	SNP	ENST00000327419.6	37	CCDS31672.1																																																																																			.		0.721	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		G	109294764	C	G	109294764	2	3	10	1	0	0	0	0	0	0	0	1	1674	610	22	3		3	C11orf87	11	109294764	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	3344423	109294764	25711752	262	2588											
CBL	867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	119149280	119149280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaggtactgaacccatcGtggtagatccgtttgatcct	9	9	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119149280G>T	ENST00000264033.4	+	9	1664	c.1288G>T	c.(1288-1290)Gtg>Ttg	p.V430L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	430	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G397_I429del(1)|p.I429_F434del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGAACCCATCGTGGTAGATCC	0.478			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.V430L		.		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	CBL-4020	3	Deletion - In frame(3)	haematopoietic_and_lymphoid_tissue(3)	c.G1288T						.						123	118	120					11																	119149280		2199	4295	6494	SO:0001583	missense	867	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	CCCATCGTGGTAG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1288G>T	11.37:g.119149280G>T	ENSP00000264033:p.Val430Leu	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	206	58	NM_005188	0	0	0	1	1	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849212	0.71603	.	.	ENSG00000110395	ENST00000264033	D	0.94457	-3.43	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.71036	2.16	0.80722	D	1	P	0.42908	0.793	B	0.40444	0.329	D	0.94404	0.7625	10	0.62326	D	0.03	-28.1373	20.422	0.99049	0.0:0.0:1.0:0.0	.	430	P22681	CBL_HUMAN	L	430	ENSP00000264033:V430L	ENSP00000264033:V430L	V	+	1	0	CBL	118654490	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.648000	0.83479	2.832000	0.97577	0.655000	0.94253	GTG	.		0.478	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		T	119149280	G	T	119149280	3	4	10	1	0	0	0	0	1	0	0	0	2707	1145	40	2	1322	2	CBL	11	119149280	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9854516	119149280	15857236	263	2589											
PVRL1	5818	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	119510594	119510594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccggccccatccgtctccgGtgggctcttctgctgccggt	12	18	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119510594G>T	ENST00000341398.2	-	6	1131	c.1132C>A	c.(1132-1134)Ccg>Acg	p.P378T	RP11-196E1.3_ENST00000601999.1_RNA|RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCCGTCTCCGGTGGGCTCTTC	0.627																																					p.P378T		.											.	PVRL1-90	0			c.C1132A						.						39	41	41					11																	119510594		2199	4295	6494	SO:0001583	missense	5818	exon6			TCTCCGGTGGGCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1132C>A	11.37:g.119510594G>T	ENSP00000344974:p.Pro378Thr	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	119	35	NM_203285	0	0	0	0	0	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674785	0.14841	.	.	ENSG00000110400	ENST00000341398	T	0.73469	-0.75	3.82	1.85	0.25348	.	.	.	.	.	T	0.42337	0.1198	N	0.02539	-0.55	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.29549	-1.0008	9	0.13470	T	0.59	.	4.122	0.10109	0.1287:0.0:0.642:0.2293	.	378	Q15223-2	.	T	378	ENSP00000344974:P378T	ENSP00000344974:P378T	P	-	1	0	PVRL1	119015804	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.559000	0.23485	0.353000	0.24079	0.462000	0.41574	CCG	.		0.627	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			T	119510594	G	T	119510594	3	4	10	1	0	0	0	0	1	0	0	0	12884	1261	44	3	256	3	PVRL1	11	119510594	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	361314	119510594	15495922	264	2590											
PVRL1	5818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	119548456	119548456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcccaggataccacaCtgggaggcttcccattggct	11	12	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119548456C>A	ENST00000264025.3	-	3	1072	c.542G>T	c.(541-543)aGt>aTt	p.S181I	PVRL1_ENST00000341398.2_Missense_Mutation_p.S181I|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.S181I	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	181	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGATACCACACTGGGAGGCTT	0.582																																					p.S181I		.											.	PVRL1-90	0			c.G542T						.						102	90	94					11																	119548456		2199	4295	6494	SO:0001583	missense	5818	exon3			ACCACACTGGGAG	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.542G>T	11.37:g.119548456C>A	ENSP00000264025:p.Ser181Ile	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	280	98	NM_002855	0	0	1	3	2	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.646856	0.87958	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.75589	-0.95;-0.95;-0.95	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.036018	0.85682	D	0.000000	D	0.85097	0.5619	M	0.66939	2.045	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.997	D	0.84626	0.0687	9	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	181;181;181	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	I	181	ENSP00000344974:S181I;ENSP00000264025:S181I;ENSP00000345289:S181I	.	S	-	2	0	PVRL1	119053666	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.481000	0.81124	2.509000	0.84616	0.556000	0.70494	AGT	.		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			A	119548456	C	A	119548456	3	1	10	1	0	0	0	0	1	0	0	0	12884	565	20	3	1473	3	PVRL1	11	119548456	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	37862	119548456	15458060	265	2591											
TMEM136	219902	hgsc.bcm.edu;bcgsc.ca	37	chr11	120198134	120198134	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgtttttctggttttGgtcttttcatcacaggatgg	9	7	4	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:120198134G>T	ENST00000375095.2	+	2	240				TMEM136_ENST00000314475.2_Missense_Mutation_p.W17L|TMEM136_ENST00000529187.1_Missense_Mutation_p.W17L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																					p.W17L		.											.	TMEM136-91	1	Substitution - Nonsense(1)	ovary(1)	c.G50T						.						178	165	169					11																	120198134		2203	4299	6502	SO:0001627	intron_variant	219902	exon2			GGTTTTGGTCTTT	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>T	11.37:g.120198134G>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	73	4	NM_001198670	0	0	0	0	0	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787243	0.31593	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	7	0.27082	T	0.32	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	17;17	Q6ZRR5-3;Q6ZRR5-4	.;.	L	17	.	ENSP00000312672:W17L	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG	.		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		T	120198134	G	T	120198134	1	4	10	0	1	0	0	0	0	0	0	0	16099	1357	47	3		3	TMEM136	11	120198134	Intron	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	649678	120198134	14808382	266	2592											
TMEM225	338661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	123754008	123754008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagatttatggatgttcAggcaggtacagctactggta	12	6	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:123754008A>G	ENST00000375026.2	-	4	731	c.515T>C	c.(514-516)cTg>cCg	p.L172P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	172					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATGGATGTTCAGGCAGGTACA	0.453																																					p.L172P		.											.	TMEM225-93	0			c.T515C						.						97	91	93					11																	123754008		2202	4299	6501	SO:0001583	missense	338661	exon4			ATGTTCAGGCAGG	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.515T>C	11.37:g.123754008A>G	ENSP00000364166:p.Leu172Pro	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	111	35	NM_001013743	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375026.2	37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166499	0.38217	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.36878	1.27;1.23	3.89	0.0179	0.14114	.	0.669254	0.12441	N	0.468690	T	0.36054	0.0953	L	0.29908	0.895	0.09310	N	0.999996	D	0.69078	0.997	P	0.60949	0.881	T	0.16867	-1.0388	10	0.87932	D	0	-5.9391	3.0513	0.06169	0.515:0.0:0.108:0.3771	.	172	Q6GV28	TM225_HUMAN	P	172;122	ENSP00000364166:L172P;ENSP00000431282:L122P	ENSP00000364166:L172P	L	-	2	0	TMEM225	123259218	0.002000	0.14202	0.000000	0.03702	0.137000	0.21094	1.073000	0.30691	-0.014000	0.14175	0.533000	0.62120	CTG	.		0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		G	123754008	A	G	123754008	3	3	10	1	0	0	0	0	1	0	0	0	16194	188	7	4	166	4	TMEM225	11	123754008	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	3555874	123754008	11252508	267	2593											
NCAPD2	9918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6639952	6639952	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attggccaagcaggtagccaGagagcgccatcagccaagaa	12	11	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:6639952G>A	ENST00000315579.5	+	30	4732	c.3933G>A	c.(3931-3933)caG>caA	p.Q1311Q	NCAPD2_ENST00000545962.1_Silent_p.Q1266Q|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1311					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGGTAGCCAGAGAGCGCCAT	0.532																																					p.Q1311Q		.											.	NCAPD2-660	0			c.G3933A						.						64	66	65					12																	6639952		2203	4300	6503	SO:0001819	synonymous_variant	9918	exon30			TAGCCAGAGAGCG	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3933G>A	12.37:g.6639952G>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	112	48	NM_014865	0	0	60	137	77	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																			.		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6639952	G	A	6639952	2	1	10	1	0	0	0	0	0	0	0	1	10244	933	33	3		3	NCAPD2	12	6639952	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		6639952	127211943	268	2594											
FAM90A1	55138	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8375115	8375115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgacagccacccgcaGggctgctgtgtgtcggcttc	12	15	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:8375115G>T	ENST00000538603.1	-	7	1256	c.698C>A	c.(697-699)cCt>cAt	p.P233H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P233H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	233							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCACCCGCAGGGCTGCTGTG	0.657																																					p.P233H		.											.	FAM90A1-91	0			c.C698A						.						39	63	55					12																	8375115		2073	4219	6292	SO:0001583	missense	55138	exon7			CCCGCAGGGCTGC	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.698C>A	12.37:g.8375115G>T	ENSP00000445418:p.Pro233His	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	126	25	NM_018088	0	0	0	0	0	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	7.554	0.663363	0.14710	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.12465	2.68;2.68	0.722	-0.369	0.12534	.	.	.	.	.	T	0.11580	0.0282	L	0.47190	1.495	0.09310	N	1	B	0.19073	0.033	B	0.20577	0.03	T	0.31806	-0.9930	8	0.66056	D	0.02	-1.2266	.	.	.	.	233	Q86YD7	F90A1_HUMAN	H	233	ENSP00000307798:P233H;ENSP00000445418:P233H	ENSP00000307798:P233H	P	-	2	0	FAM90A1	8266382	0.005000	0.15991	0.000000	0.03702	0.030000	0.12068	0.308000	0.19314	-0.155000	0.11098	0.194000	0.17425	CCT	.		0.657	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		T	8375115	G	T	8375115	3	4	10	1	0	0	0	0	1	0	0	0	5672	1000	35	3	700	3	FAM90A1	12	8375115	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1735163	8375115	125476780	269	2595											
GPR19	2842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	12814767	12814767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagttacaatgactgtcccAgttggagccatagaaaaaga	9	7	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:12814767A>T	ENST00000540510.1	-	2	808	c.616T>A	c.(616-618)Tgg>Agg	p.W206R	GPR19_ENST00000332427.2_Missense_Mutation_p.W206R			P46093	GPR4_HUMAN	G protein-coupled receptor 19	164					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)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TGACTGTCCCAGTTGGAGCCA	0.488																																					p.W206R		.											.	GPR19-91	0			c.T616A						.						72	67	69					12																	12814767		2203	4300	6503	SO:0001583	missense	2842	exon4			TGTCCCAGTTGGA		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.616T>A	12.37:g.12814767A>T	ENSP00000441832:p.Trp206Arg	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	82	36	NM_006143	0	0	0	0	0	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	A	2.145	-0.395857	0.04899	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.70631	-0.5;-0.5	5.49	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.656693	0.14294	N	0.328772	T	0.43567	0.1253	N	0.03608	-0.345	0.29074	N	0.883083	B	0.17667	0.023	B	0.15052	0.012	T	0.33624	-0.9861	10	0.18276	T	0.48	-6.3191	7.1802	0.25768	0.7037:0.1513:0.0:0.145	.	206	Q15760	GPR19_HUMAN	R	206	ENSP00000441832:W206R;ENSP00000333744:W206R	ENSP00000333744:W206R	W	-	1	0	GPR19	12706034	0.579000	0.26725	0.965000	0.40720	0.420000	0.31355	1.901000	0.39838	0.880000	0.35969	0.459000	0.35465	TGG	.		0.488	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		T	12814767	A	T	12814767	3	4	10	1	0	0	0	0	1	0	0	0	6705	188	7	5	635	5	GPR19	12	12814767	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	4439652	12814767	121037128	270	2596											
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	18435177	18435177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcaaaattccacactaCgagagtgaaattgatgaaaa	9	6	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:18435177C>T	ENST00000266497.5	+	1	200	c.162C>T	c.(160-162)taC>taT	p.Y54Y	PIK3C2G_ENST00000433979.1_Silent_p.Y54Y|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Silent_p.Y54Y|PIK3C2G_ENST00000535651.1_Silent_p.Y54Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	54					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)				TTCCACACTACGAGAGTGAAA	0.398																																					p.Y54Y		.											.	PIK3C2G-1312	0			c.C162T						.						78	74	75					12																	18435177		1871	4100	5971	SO:0001819	synonymous_variant	5288	exon2			ACACTACGAGAGT	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.162C>T	12.37:g.18435177C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	80	21	NM_004570	0	0	0	0	0	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			.		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18435177	C	T	18435177	2	4	10	1	0	0	0	0	0	0	0	1	11950	547	19	1		1	PIK3C2G	12	18435177	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5620410	18435177	115416718	271	2597											
TMTC1	83857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29786206	29786206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgacctgccagtcatagcaCagggtcacgggtgcaagcag	13	13	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:29786206C>A	ENST00000539277.1	-	6	1060	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMTC1_ENST00000256062.5_Silent_p.L226L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.L396L|TMTC1_ENST00000381224.2_Silent_p.L288L|TMTC1_ENST00000551659.1_Silent_p.L396L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	334						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)					AGTCATAGCACAGGGTCACGG	0.488																																					p.L334L		.											.	TMTC1-90	0			c.G1002T						.						110	94	99					12																	29786206		2203	4300	6503	SO:0001819	synonymous_variant	83857	exon6			ATAGCACAGGGTC		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.1002G>T	12.37:g.29786206C>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	233	86	NM_001193451	0	0	0	0	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	CCDS53772.1																																																																																			.		0.488	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		A	29786206	C	A	29786206	2	1	10	1	0	0	0	0	0	0	0	1	16307	465	17	3		3	TMTC1	12	29786206	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	11351029	29786206	104065689	272	2598											
PLEKHA9	51054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	45568015	45568015	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaggtcttcagaaaaGtattacaggttgatttcagc	8	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:45568015G>C	ENST00000256692.5	-	0	670					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTTCAGAAAAGTATTACAGGT	0.458																																					.		.											.	PLEKHA8P1-226	0			.						.						234	223	227					12																	45568015		2203	4300	6503			51054	.			AGAAAAGTATTAC	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568015G>C		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	169	56	.	0	0	4	6	2		RNA	SNP	ENST00000256692.5	37																																																																																				.		0.458	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		C	45568015	G	C	45568015	1	2	10	0	1	0	0	0	0	0	0	0	12102	1029	36	3		3	PLEKHA9	12	45568015	RNA	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	15781809	45568015	88283880	273	2599											
RAPGEF3	10411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	48131974	48131974	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggacccgccctctcAccagggttgtggcttcggca	13	17	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:48131974A>T	ENST00000449771.2	-	26	2670		c.e26+1		RAPGEF3_ENST00000405493.2_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000548919.1_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						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)		CCGCCCTCTCACCAGGGTTGT	0.667																																					.		.											.	RAPGEF3-660	0			c.2455+2T>A						.						28	30	30					12																	48131974		2203	4300	6503	SO:0001630	splice_region_variant	10411	exon27			CCTCTCACCAGGG	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.2581+1T>A	12.37:g.48131974A>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	204	70	NM_006105	0	0	0	0	0	A8K2G5|E7EQC8|O95634|Q8WVN0	Splice_Site	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575253	0.65878	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3048	0.54895	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46418241	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	6.073000	0.71245	1.999000	0.58509	0.459000	0.35465	.	.		0.667	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	Intron	T	48131974	A	T	48131974	5	4	10	1	0	0	0	0	0	0	1	0	13090	173	6	5	200	5	RAPGEF3	12	48131974	Splice_Site	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	2563959	48131974	85719921	274	2600											
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52163733	52163733	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggtccctgtggaacagcctGaggaatacttggatccagat	12	9	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:52163733G>C	ENST00000354534.6	+	18	3632	c.3454G>C	c.(3454-3456)Gag>Cag	p.E1152Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1152Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1152					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)	GGAACAGCCTGAGGAATACTT	0.512																																					p.E1152Q		.											.	SCN8A-29	0			c.G3454C						.						61	63	63					12																	52163733		2012	4180	6192	SO:0001583	missense	6334	exon18			CAGCCTGAGGAAT	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.3454G>C	12.37:g.52163733G>C	ENSP00000346534:p.Glu1152Gln	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	200	63	NM_014191	0	0	0	0	0	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188311	0.78789	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.85339	-1.97;-1.97;-1.97	5.07	5.07	0.68467	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.92557	0.7636	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72982	0.979;0.969	D	0.92302	0.5850	10	0.51188	T	0.08	.	19.0207	0.92915	0.0:0.0:1.0:0.0	.	1152;1152	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	Q	1152;1152;1152;1065	ENSP00000346534:E1152Q;ENSP00000440360:E1152Q;ENSP00000347255:E1152Q	ENSP00000346534:E1152Q	E	+	1	0	SCN8A	50450000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.804000	0.96469	0.655000	0.94253	GAG	.		0.512	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		C	52163733	G	C	52163733	3	2	10	1	0	0	0	0	1	0	0	0	13969	1291	45	3	3520	3	SCN8A	12	52163733	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4031759	52163733	81688162	275	2601											
KRT75	9119	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52827680	52827680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggatggtggggtcgatttGcaggtgaagaggagtcagga	19	4	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:52827680G>T	ENST00000252245.5	-	1	629	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	137	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGGTCGATTTGCAGGTGAAGA	0.597																																					p.Q137K		.											.	KRT75-90	0			c.C409A						.						135	136	135					12																	52827680		2203	4300	6503	SO:0001583	missense	9119	exon1			CGATTTGCAGGTG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.409C>A	12.37:g.52827680G>T	ENSP00000252245:p.Gln137Lys	Somatic	205	1		WXS	Illumina GAIIx	Phase_I	302	84	NM_004693	0	0	0	0	0	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460949	0.63513	.	.	ENSG00000170454	ENST00000252245	T	0.80033	-1.33	5.74	5.74	0.90152	.	0.000000	0.52532	D	0.000079	T	0.70404	0.3220	N	0.19112	0.55	0.45272	D	0.998276	B	0.20780	0.048	B	0.22753	0.041	T	0.67841	-0.5566	10	0.66056	D	0.02	.	14.3641	0.66792	0.0:0.2633:0.7367:0.0	.	137	O95678	K2C75_HUMAN	K	137	ENSP00000252245:Q137K	ENSP00000252245:Q137K	Q	-	1	0	KRT75	51113947	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.761000	0.47589	2.702000	0.92279	0.655000	0.94253	CAA	.		0.597	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		T	52827680	G	T	52827680	3	4	10	1	0	0	0	0	1	0	0	0	8515	1328	46	3	1282	3	KRT75	12	52827680	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	663947	52827680	81024215	276	2602											
KRT2	3849	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	53044230	53044230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgaggctgtcgatataCccctggaagatgggctccag	12	11	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:53044230C>A	ENST00000309680.3	-	2	714	c.693G>T	c.(691-693)ggG>ggT	p.G231G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	231	Linker 1.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGTCGATATACCCCTGGAAGA	0.483																																					p.G231G		.											.	KRT2-92	0			c.G693T						.						173	167	169					12																	53044230		2203	4300	6503	SO:0001819	synonymous_variant	3849	exon2			GATATACCCCTGG		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.693G>T	12.37:g.53044230C>A		Somatic	113	2		WXS	Illumina GAIIx	Phase_I	163	54	NM_000423	0	0	0	0	0	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																			C|1.000;A|0.000		0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53044230	C	A	53044230	2	1	10	1	0	0	0	0	0	0	0	1	8484	494	18	3		3	KRT2	12	53044230	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	216550	53044230	80807665	277	2603											
SPRYD3	84926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53470946	53470946	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaacctctcctgataTcggaaagctcggacctctcg	9	12	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:53470946T>A	ENST00000301463.4	-	2	209	c.123A>T	c.(121-123)cgA>cgT	p.R41R	SPRYD3_ENST00000547837.1_Silent_p.R78R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	41	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTCCTGATATCGGAAAGCTC	0.468																																					p.R41R		.											.	SPRYD3-90	0			c.A123T						.						125	117	120					12																	53470946		2203	4300	6503	SO:0001819	synonymous_variant	84926	exon2			CTGATATCGGAAA	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.123A>T	12.37:g.53470946T>A		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	53	13	NM_032840	0	0	0	3	3	B9EG99|Q96SK5	Silent	SNP	ENST00000301463.4	37	CCDS8845.1																																																																																			.		0.468	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		A	53470946	T	A	53470946	2	1	10	1	0	0	0	0	0	0	0	1	15156	1422	50	5		5	SPRYD3	12	53470946	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	426716	53470946	80380949	278	2604											
OR9K2	441639	broad.mit.edu	37	chr12	55523835	55523835	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggcaatctctccttcattGatcttttctattcatctgtt	4	10	6	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:55523835G>T	ENST00000305377.5	+	1	371	c.283G>T	c.(283-285)Gat>Tat	p.D95Y		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CTCCTTCATTGATCTTTTCTA	0.418																																					p.D95Y		.											.	OR9K2-69	0			c.G283T						.						178	176	177					12																	55523835		2203	4300	6503	SO:0001583	missense	441639	exon1			TTCATTGATCTTT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.283G>T	12.37:g.55523835G>T	ENSP00000307598:p.Asp95Tyr	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	13	3	NM_001005243	0	0	0	0	0	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215606	0.58452	.	.	ENSG00000170605	ENST00000305377	T	0.01185	5.21	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.13072	0.0317	H	0.96430	3.82	0.37317	D	0.909382	D	0.89917	1.0	D	0.97110	1.0	T	0.11518	-1.0584	10	0.87932	D	0	-24.8603	18.4253	0.90607	0.0:0.0:1.0:0.0	.	95	Q8NGE7	OR9K2_HUMAN	Y	95	ENSP00000307598:D95Y	ENSP00000307598:D95Y	D	+	1	0	OR9K2	53810102	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	4.406000	0.59748	2.753000	0.94483	0.650000	0.86243	GAT	.		0.418	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			T	55523835	G	T	55523835	3	4	10	1	0	0	0	0	1	0	0	0	11293	1290	45	3	285	3	OR9K2	12	55523835	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2052889	55523835	78328060	279	2605											
GRIP1	23426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	66773061	66773061	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattggttgaaaaccttaccCactggctgtggaccggtccc	10	13	0	1	rs565811258		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:66773061C>A	ENST00000398016.3	-	19	2532	c.2464G>T	c.(2464-2466)Ggt>Tgt	p.G822C	GRIP1_ENST00000286445.7_Splice_Site_p.G874C|GRIP1_ENST00000359742.4_Splice_Site_p.G874C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAACCTTACCCACTGGCTGTG	0.488																																					p.G822C		.											.	GRIP1-494	0			c.G2464T						.						166	162	164					12																	66773061		1952	4141	6093	SO:0001630	splice_region_variant	23426	exon19			CTTACCCACTGGC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2465+1G>T	12.37:g.66773061C>A		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	152	88	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130837	0.37630	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.91	3.08	0.35506	.	0.045544	0.85682	D	0.000000	T	0.79493	0.4455	M	0.65498	2.005	0.49582	D	0.999804	P;D;B;D	0.61697	0.879;0.97;0.001;0.99	P;P;B;P	0.49047	0.556;0.503;0.006;0.599	T	0.78127	-0.2325	9	.	.	.	-18.2837	7.2136	0.25947	0.0:0.7191:0.0:0.2809	.	822;874;822;874	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	C	822;874;874;822;766;714	ENSP00000381098:G822C;ENSP00000352780:G874C;ENSP00000286445:G874C;ENSP00000446047:G822C;ENSP00000446024:G766C;ENSP00000446011:G714C	.	G	-	1	0	GRIP1	65059328	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	2.840000	0.48215	1.434000	0.47414	0.561000	0.74099	GGT	.		0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		Missense_Mutation	A	66773061	C	A	66773061	5	1	10	1	0	0	0	0	0	0	1	0	6814	608	21	3	790	3	GRIP1	12	66773061	Splice_Site	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	11249226	66773061	67078834	280	2606											
RAP1B	5908	bcgsc.ca	37	chr12	69047921	69047921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaatgagggatttataCatgaaaaatggacaaggatt	10	4	0	2	rs558770393		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:69047921C>T	ENST00000250559.9	+	5	444	c.213C>T	c.(211-213)taC>taT	p.Y71Y	RAP1B_ENST00000540209.1_Silent_p.Y52Y|RAP1B_ENST00000537460.1_Silent_p.Y71Y|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000393436.5_Silent_p.Y71Y|RAP1B_ENST00000378985.3_Silent_p.Y5Y|RAP1B_ENST00000450214.2_Silent_p.Y29Y|RAP1B_ENST00000543393.1_Silent_p.Y5Y|RAP1B_ENST00000341355.5_Silent_p.Y71Y|RAP1B_ENST00000543697.1_Silent_p.Y71Y|RAP1B_ENST00000539091.1_Silent_p.Y29Y|RAP1B_ENST00000541216.1_Silent_p.Y71Y	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	71					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GGGATTTATACATGAAAAATG	0.323																																					p.Y71Y		.											.	RAP1B-1271	0			c.C213T						.						167	174	171					12																	69047921		2203	4299	6502	SO:0001819	synonymous_variant	5908	exon5			TTTATACATGAAA		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.213C>T	12.37:g.69047921C>T		Somatic	285	1		WXS	Illumina GAIIx	Phase_I	230	9	NM_001010942	0	0	40	40	0	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Silent	SNP	ENST00000250559.9	37	CCDS8984.1																																																																																			.		0.323	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		T	69047921	C	T	69047921	2	4	10	1	0	0	0	0	0	0	0	1	13081	489	17	3		3	RAP1B	12	69047921	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2274860	69047921	64803974	281	2607											
C12orf50	160419	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	88381692	88381692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttaatacatgcgttgtaGgtactagtcgggtagttagg	12	5	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:88381692G>T	ENST00000298699.2	-	9	932	c.752C>A	c.(751-753)cCt>cAt	p.P251H	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	251										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGCGTTGTAGGTACTAGTCG	0.358																																					p.P251H		.											.	C12orf50-93	0			c.C752A						.						165	146	152					12																	88381692		2203	4300	6503	SO:0001583	missense	160419	exon9			GTTGTAGGTACTA	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.752C>A	12.37:g.88381692G>T	ENSP00000298699:p.Pro251His	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_152589	0	0	0	0	0	Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981218	0.53827	.	.	ENSG00000165805	ENST00000298699	T	0.31769	1.48	5.53	4.59	0.56863	.	0.325791	0.26887	N	0.021995	T	0.43722	0.1260	M	0.63428	1.95	0.80722	D	1	D	0.58268	0.982	P	0.55999	0.789	T	0.30822	-0.9965	10	0.54805	T	0.06	.	10.8455	0.46741	0.0:0.0:0.812:0.188	.	251	Q8NA57	CL050_HUMAN	H	251	ENSP00000298699:P251H	ENSP00000298699:P251H	P	-	2	0	C12orf50	86905823	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.773000	0.47686	2.605000	0.88082	0.650000	0.86243	CCT	.		0.358	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		T	88381692	G	T	88381692	3	4	10	1	0	0	0	0	1	0	0	0	1700	1000	35	3	512	3	C12orf50	12	88381692	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	19333771	88381692	45470203	282	2608											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	10	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	7955491	96337183	37514712	283	2609											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_152435	0	0	0	2	2	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	10	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	42	96337225	37514670	284	2610											
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	98940140	98940140	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtttcttattaggtgGgagaaaaaacagaggaaaga	12	3	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:98940140G>T	ENST00000556029.1	+	8	1350	c.994G>T	c.(994-996)Gga>Tga	p.G332*	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Nonsense_Mutation_p.G223*|TMPO_ENST00000343315.5_Nonsense_Mutation_p.G292*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	332	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					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						TTATTAGGTGGGAGAAAAAAC	0.313																																					p.G332X		.											.	TMPO-93	0			c.G994T						.						112	113	113					12																	98940140		2203	4299	6502	SO:0001587	stop_gained	7112	exon8			TAGGTGGGAGAAA		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.994G>T	12.37:g.98940140G>T	ENSP00000450627:p.Gly332*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	102	31	NM_001032283	0	0	0	0	0	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.452506	0.97577	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	11.5682	0.50818	0.0:0.1411:0.7291:0.1298	.	.	.	.	X	332;292;223;167	.	ENSP00000340251:G332X	G	+	1	0	TMPO	97464271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	2.699000	0.92147	0.655000	0.94253	GGA	.		0.313	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98940140	G	T	98940140	4	4	10	1	0	0	0	0	0	1	0	0	16284	1233	43	3	2548	3	TMPO	12	98940140	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2602915	98940140	34911755	285	2611											
UTP20	27340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	101723173	101723173	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacctgccgaagattttgcaGatactgctctgtatgacagc	9	10	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:101723173G>A	ENST00000261637.4	+	27	3537	c.3363G>A	c.(3361-3363)caG>caA	p.Q1121Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1121					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						AGATTTTGCAGATACTGCTCT	0.408																																					p.Q1121Q		.											.	UTP20-155	0			c.G3363A						.						130	120	123					12																	101723173		2203	4300	6503	SO:0001819	synonymous_variant	27340	exon27			TTTGCAGATACTG	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.3363G>A	12.37:g.101723173G>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	123	45	NM_014503	0	0	0	0	0	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																			.		0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		A	101723173	G	A	101723173	2	1	10	1	0	0	0	0	0	0	0	1	17148	933	33	3		3	UTP20	12	101723173	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2783033	101723173	32128722	286	2612											
CHPT1	56994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	102117036	102117036	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtcagcaactgatgtgtttGaaaagcatccttgtctttat	8	7	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:102117036G>C	ENST00000229266.3	+	6	1106	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	CHPT1_ENST00000549872.1_Missense_Mutation_p.E291Q	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	291					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGATGTGTTTGAAAAGCATCC	0.328																																					p.E291Q		.											.	CHPT1-90	0			c.G871C						.						114	116	115					12																	102117036		2203	4300	6503	SO:0001583	missense	56994	exon6			GTGTTTGAAAAGC		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"phosphatidylcholine synthesizing enzyme"					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.871G>C	12.37:g.102117036G>C	ENSP00000229266:p.Glu291Gln	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	37	NM_020244	0	0	18	83	65	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728984	0.30684	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.49432	0.78;0.78	5.94	5.94	0.96194	.	0.094359	0.64402	D	0.000001	T	0.46073	0.1374	L	0.52364	1.645	0.43091	D	0.994765	B;P	0.38167	0.184;0.621	B;B	0.39617	0.305;0.222	T	0.34675	-0.9819	10	0.33141	T	0.24	-29.8403	15.4652	0.75394	0.0:0.1382:0.8617:0.0	.	291;291	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	Q	291;291;124	ENSP00000229266:E291Q;ENSP00000448766:E291Q	ENSP00000229266:E291Q	E	+	1	0	CHPT1	100641167	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.428000	0.80296	2.805000	0.96524	0.643000	0.83706	GAA	.		0.328	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		C	102117036	G	C	102117036	3	2	10	1	0	0	0	0	1	0	0	0	3377	1291	45	3	893	3	CHPT1	12	102117036	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	393863	102117036	31734859	287	2613											
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	104107546	104107546	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggcattgtgtgcctgGgtaggtgtccttccctcttc	13	10	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:104107546G>T	ENST00000388887.2	+	42	4741	c.4537G>T	c.(4537-4539)Gaa>Taa	p.E1513*		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						TGTGTGCCTGGGTAGGTGTCC	0.517																																					p.E1513X		.											.	STAB2-104	0			c.G4537T						.						262	232	242					12																	104107546		2203	4300	6503	SO:0001630	splice_region_variant	55576	exon42			TGCCTGGGTAGGT	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.4537+1G>T	12.37:g.104107546G>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	120	36	NM_017564	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	44	10.856667	0.99478	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.18	5.18	0.71444	.	0.059431	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	.	.	.	X	1513;200	.	ENSP00000258495:E200X	E	+	1	0	STAB2	102631676	1.000000	0.71417	0.523000	0.27875	0.315000	0.28087	6.509000	0.73725	2.411000	0.81874	0.555000	0.69702	GAA	.		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Nonsense_Mutation	T	104107546	G	T	104107546	5	4	10	1	0	0	0	0	0	0	1	0	15285	1246	43	3	4703	3	STAB2	12	104107546	Splice_Site	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1990510	104107546	29744349	288	2614											
UBE3B	89910	broad.mit.edu;bcgsc.ca	37	chr12	109940954	109940954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtcctctaccagacctCgctgacaactctcacacaga	6	16	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:109940954C>T	ENST00000342494.3	+	14	2004	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.S470L|UBE3B_ENST00000280774.5_Missense_Mutation_p.S470L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	470					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						TACCAGACCTCGCTGACAACT	0.527																																					p.S470L		.											.	UBE3B-660	0			c.C1409T						.						114	99	104					12																	109940954		2203	4300	6503	SO:0001583	missense	89910	exon14			AGACCTCGCTGAC	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.1409C>T	12.37:g.109940954C>T	ENSP00000340596:p.Ser470Leu	Somatic	99	2		WXS	Illumina GAIIx	Phase_I	125	49	NM_130466	0	0	0	3	3	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419350	0.62622	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.39406	1.37;1.08;1.66;1.37	5.81	4.92	0.64577	.	0.347035	0.32719	N	0.005723	T	0.28632	0.0709	N	0.12182	0.205	0.47407	D	0.999411	B	0.17268	0.021	B	0.08055	0.003	T	0.06180	-1.0841	10	0.72032	D	0.01	-3.885	15.6137	0.76748	0.0:0.8618:0.1382:0.0	.	470	Q7Z3V4	UBE3B_HUMAN	L	470	ENSP00000391529:S470L;ENSP00000280774:S470L;ENSP00000443131:S470L;ENSP00000340596:S470L	ENSP00000280774:S470L	S	+	2	0	UBE3B	108425337	1.000000	0.71417	0.981000	0.43875	0.569000	0.35902	7.079000	0.76829	1.432000	0.47375	0.655000	0.94253	TCG	.		0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		T	109940954	C	T	109940954	3	4	10	1	0	0	0	0	1	0	0	0	16929	893	31	1	1455	1	UBE3B	12	109940954	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5833408	109940954	23910941	289	2615											
OAS1	4938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113348875	113348875	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagttgactggcggctaTaaacctaacccccaaatcta	8	12	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:113348875T>G	ENST00000202917.5	+	3	752	c.489T>G	c.(487-489)taT>taG	p.Y163*	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Nonsense_Mutation_p.Y163*|OAS1_ENST00000452357.2_Nonsense_Mutation_p.Y163*|OAS1_ENST00000551241.1_Nonsense_Mutation_p.Y163*	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	163					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTGGCGGCTATAAACCTAACC	0.502																																					p.Y163X		.											.	OAS1-70	0			c.T489G						.						75	67	70					12																	113348875		2203	4300	6503	SO:0001587	stop_gained	4938	exon3			CGGCTATAAACCT	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.489T>G	12.37:g.113348875T>G	ENSP00000202917:p.Tyr163*	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	202	74	NM_001032409	0	0	0	0	0	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Nonsense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412111	0.83340	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	.	.	.	4.16	2.21	0.28008	.	4.132300	0.00424	N	0.000072	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.016	5.2169	0.15348	0.0:0.6987:0.0:0.3013	.	.	.	.	X	163;163;163;163;163;159	.	ENSP00000202917:Y163X	Y	+	3	2	OAS1	111833258	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	1.032000	0.30178	0.450000	0.26774	0.459000	0.35465	TAT	.		0.502	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			G	113348875	T	G	113348875	4	3	10	1	0	0	0	0	0	1	0	0	10838	1413	49	5	499	5	OAS1	12	113348875	Nonsense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	3407921	113348875	20503020	290	2616											
SDS	10993	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	113836362	113836363	+	Missense_Mutation	DNP	GG	GG	AT													ggggaatgtagacccaacccGggttgttcttcgctagggcc					rs373115603		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:113836362_113836363GG>AT	ENST00000257549.4	-	5	504_505	c.382_383CC>AT	c.(382-384)CCg>ATg	p.P128M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	128					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GACCCAACCCGGGTTGTTCTTC	0.584																																					p.P128M		.											.	SDS-91	0			c.C382A						.																																			SO:0001583	missense	10993	exon5			AACCCGGGTTGTT	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.382_383delinsAT	12.37:g.113836362_113836363delinsAT	ENSP00000257549:p.Pro128Met	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	68	0	NM_006843	0	0	0	0	0	A8K9P5	Missense_Mutation	DNP	ENST00000257549.4	37	CCDS9169.1																																																																																			.		0.584	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		AT	113836363	GG	AT	113836362	3	1	10	1	0	0	0	0	1	0	0	0	14020	1116	39	1	619	1	SDS	12	113836362	Missense_Mutation	DNP	GG	TCGA-OR-A5JB-01A-11D-A29I-10	487487	113836362	20015533	291	2617											
PIWIL1	9271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	130830339	130830339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaggagttatcgttagcaGagagaggaggtcgtcgtaga	15	5	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:130830339G>A	ENST00000245255.3	+	4	504	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	78					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)		ATCGTTAGCAGAGAGAGGAGG	0.363																																					p.E78K		.											.	PIWIL1-92	0			c.G232A						.						166	160	162					12																	130830339		2203	4300	6503	SO:0001583	missense	9271	exon4			TTAGCAGAGAGAG	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.232G>A	12.37:g.130830339G>A	ENSP00000245255:p.Glu78Lys	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	142	51	NM_004764	0	0	0	0	0	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839142	0.91117	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6;3.6	5.98	5.98	0.97165	.	0.092352	0.64402	D	0.000001	T	0.08179	0.0204	L	0.45352	1.415	0.80722	D	1	B;P	0.36330	0.426;0.548	B;B	0.40410	0.328;0.23	T	0.43212	-0.9405	10	0.18710	T	0.47	-0.3547	19.4463	0.94849	0.0:0.0:1.0:0.0	.	78;78	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	78	ENSP00000245255:E78K;ENSP00000442086:E78K;ENSP00000440677:E78K;ENSP00000439096:E78K;ENSP00000444353:E78K;ENSP00000438582:E78K	ENSP00000245255:E78K	E	+	1	0	PIWIL1	129396292	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.368000	0.97152	2.835000	0.97688	0.650000	0.86243	GAG	.		0.363	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130830339	G	A	130830339	3	1	10	1	0	0	0	0	1	0	0	0	11996	943	33	3	242	3	PIWIL1	12	130830339	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	16993977	130830339	3021556	292	2618											
TPTE2	93492	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	20024411	20024411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaaacttactgtagagtGgggacattatgatcatcaat	8	6	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:20024411G>A	ENST00000400230.2	-	12	920	c.876C>T	c.(874-876)ccC>ccT	p.P292P	TPTE2_ENST00000390680.2_Silent_p.P215P|TPTE2_ENST00000457266.2_Silent_p.P181P|TPTE2_ENST00000255310.6_Silent_p.P215P|TPTE2_ENST00000382977.4_Silent_p.P292P|TPTE2_ENST00000382975.4_Silent_p.P252P|TPTE2_ENST00000400103.2_Silent_p.P181P|TPTE2_ENST00000382978.1_Silent_p.P252P			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	292	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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)		ACTGTAGAGTGGGGACATTAT	0.294																																					p.P292P		.											.	TPTE2-92	0			c.C876T						.						61	68	65					13																	20024411		2203	4298	6501	SO:0001819	synonymous_variant	93492	exon13			TAGAGTGGGGACA	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.876C>T	13.37:g.20024411G>A		Somatic	337	0		WXS	Illumina GAIIx	Phase_I	249	137	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																			.		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20024411	G	A	20024411	2	1	10	1	0	0	0	0	0	0	0	1	16479	1335	47	3		3	TPTE2	13	20024411	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		20024411	95145467	293	2619											
DCLK1	9201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	36384973	36384973	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acataagagaagcatttaccCagtctctgcaatgatttctg	7	9	2	2	rs535509328		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:36384973C>A	ENST00000360631.3	-	12	1898	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	DCLK1_ENST00000379893.1_Splice_Site_p.G256*|DCLK1_ENST00000255448.4_Splice_Site_p.G563*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCATTTACCCAGTCTCTGCA	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		16283	0		0	False		,,,				2504	0				p.G563X		.											.	DCLK1-826	0			c.G1687T						.						172	178	176					13																	36384973		2203	4300	6503	SO:0001630	splice_region_variant	9201	exon12			TTTACCCAGTCTC	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.1688+1G>T	13.37:g.36384973C>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	40	22	NM_004734	0	0	0	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Nonsense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	38	7.058985	0.98032	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	.	.	.	5.18	5.18	0.71444	.	0.103370	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	.	.	.	X	255;563;563;256;545	.	ENSP00000255448:G563X	G	-	1	0	DCLK1	35282973	1.000000	0.71417	0.998000	0.56505	0.223000	0.24884	7.351000	0.79395	2.572000	0.86782	0.655000	0.94253	GGA	.		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Nonsense_Mutation	A	36384973	C	A	36384973	5	1	10	1	0	0	0	0	0	0	1	0	4300	608	21	3	530	3	DCLK1	13	36384973	Splice_Site	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	16360562	36384973	78784905	294	2620											
MED4	29079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	48655799	48655799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acctggaacccaggtcagtgGagcacatacagcattacttg	10	11	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:48655799G>T	ENST00000258648.2	-	5	515	c.490C>A	c.(490-492)Cca>Aca	p.P164T	MED4_ENST00000495013.1_5'Flank|MED4_ENST00000378586.1_Missense_Mutation_p.P118T|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	164					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CAGGTCAGTGGAGCACATACA	0.363																																					p.P164T	Pancreas(38;399 1016 9170 13426 20145)	.											.	MED4-187	0			c.C490A						.						114	105	108					13																	48655799		2203	4300	6503	SO:0001583	missense	29079	exon5			TCAGTGGAGCACA	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.490C>A	13.37:g.48655799G>T	ENSP00000258648:p.Pro164Thr	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	58	32	NM_014166	0	0	8	82	74	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545912	0.86022	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85713	0.1320	9	0.72032	D	0.01	-16.5729	18.4476	0.90690	0.0:0.0:1.0:0.0	.	142;164	E9PDW1;Q9NPJ6	.;MED4_HUMAN	T	164;142;118;142	.	ENSP00000258648:P164T	P	-	1	0	MED4	47553800	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.756000	0.98918	2.610000	0.88304	0.449000	0.29647	CCA	.		0.363	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		T	48655799	G	T	48655799	3	4	10	1	0	0	0	0	1	0	0	0	9488	1174	41	3	334	3	MED4	13	48655799	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	12270826	48655799	66514079	295	2621											
ATP7B	540	bcgsc.ca	37	chr13	52509068	52509068	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggggagtcccgccacctgtCatccatgcctatgtgcacac	11	15	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:52509068C>A	ENST00000242839.4	-	21	4378	c.4222G>T	c.(4222-4224)Gac>Tac	p.D1408Y	ATP7B_ENST00000448424.2_Missense_Mutation_p.D1330Y|ATP7B_ENST00000417240.2_Missense_Mutation_p.D619Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.D1343Y|ATP7B_ENST00000400370.3_Missense_Mutation_p.D978Y|ATP7B_ENST00000344297.5_Missense_Mutation_p.D1201Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.D1297Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1408					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)	CGCCACCTGTCATCCATGCCT	0.612									Wilson disease																												p.D1408Y		.											.	ATP7B-92	0			c.G4222T						.						80	87	85					13																	52509068		2159	4265	6424	SO:0001583	missense	540	exon21	Familial Cancer Database		ACCTGTCATCCAT	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.4222G>T	13.37:g.52509068C>A	ENSP00000242839:p.Asp1408Tyr	Somatic	101	3		WXS	Illumina GAIIx	Phase_I	82	44	NM_000053	0	0	0	1	1	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369721	0.24771	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.93	5.09	0.68999	.	0.261286	0.43260	D	0.000585	D	0.86781	0.6015	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;P;D;P	0.89917	1.0;0.997;0.974;0.985;0.974;0.567;0.974;0.884	D;D;P;P;P;P;P;P	0.91635	0.999;0.94;0.66;0.88;0.66;0.556;0.66;0.54	D	0.88275	0.2932	10	0.87932	D	0	-16.3733	15.3988	0.74818	0.0:0.9332:0.0:0.0668	.	1330;1360;1343;619;978;1297;1201;1408	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	Y	1408;1297;1201;619;1330;978;1343	ENSP00000242839:D1408Y;ENSP00000383217:D1297Y;ENSP00000342559:D1201Y;ENSP00000390360:D619Y;ENSP00000416738:D1330Y;ENSP00000383221:D978Y;ENSP00000393343:D1343Y	ENSP00000242839:D1408Y	D	-	1	0	ATP7B	51407069	0.982000	0.34865	1.000000	0.80357	0.067000	0.16453	2.431000	0.44775	1.522000	0.49001	0.655000	0.94253	GAC	.		0.612	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		A	52509068	C	A	52509068	3	1	10	1	0	0	0	0	1	0	0	0	1192	826	29	3	179	3	ATP7B	13	52509068	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	3853269	52509068	62660810	296	2622											
OLFM4	10562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	53624435	53624435	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgccagagttaacctgacCaccaacacgattgctgtgac	8	12	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:53624435C>A	ENST00000219022.2	+	5	1140	c.1062C>A	c.(1060-1062)acC>acA	p.T354T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	354	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)		TTAACCTGACCACCAACACGA	0.443																																					p.T354T		.											.	OLFM4-69	0			c.C1062A						.						185	170	175					13																	53624435		2203	4300	6503	SO:0001819	synonymous_variant	10562	exon5			CCTGACCACCAAC	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.1062C>A	13.37:g.53624435C>A		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	210	120	NM_006418	0	0	0	0	0	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																			.		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624435	C	A	53624435	2	1	10	1	0	0	0	0	0	0	0	1	10894	581	21	3		3	OLFM4	13	53624435	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1115367	53624435	61545443	297	2623											
DIAPH3	81624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	60545177	60545177	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggtggtgggggaggaggtgGaggcggcacccctccaccag	20	10	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:60545177G>C	ENST00000400324.4	-	16	1988	c.1768C>G	c.(1768-1770)Cca>Gca	p.P590A	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P544A|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P590A|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P520A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P579A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P590A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	590	FH1.|Pro-rich.				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)		GGAGGAGGTGGAGGCGGCACC	0.582																																					p.P590A		.											.	DIAPH3-516	0			c.C1768G						.						29	36	34					13																	60545177		1941	4141	6082	SO:0001583	missense	81624	exon16			GAGGTGGAGGCGG	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.1768C>G	13.37:g.60545177G>C	ENSP00000383178:p.Pro590Ala	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	93	64	NM_001042517	0	0	0	1	1	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820255	0.50633	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;T	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;0.9	5.12	4.27	0.50696	.	0.526483	0.19424	N	0.114601	D	0.92335	0.7568	M	0.74647	2.275	0.46317	D	0.998981	P;B;D	0.76494	0.644;0.052;0.999	B;B;D	0.80764	0.287;0.024;0.994	D	0.91365	0.5115	10	0.39692	T	0.17	.	14.0326	0.64624	0.0749:0.0:0.9251:0.0	.	327;327;590	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	A	590;590;579;544;520;579;520;544;590;327;590	ENSP00000383178:P590A;ENSP00000383184:P590A;ENSP00000367141:P579A;ENSP00000383173:P520A;ENSP00000383174:P544A;ENSP00000267215:P590A	ENSP00000267214:P327A	P	-	1	0	DIAPH3	59443178	1.000000	0.71417	0.263000	0.24496	0.124000	0.20399	5.630000	0.67805	2.411000	0.81874	0.492000	0.49549	CCA	.		0.582	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		C	60545177	G	C	60545177	3	2	10	1	0	0	0	0	1	0	0	0	4534	1174	41	3	1885	3	DIAPH3	13	60545177	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6920742	60545177	54624701	298	2624											
KLHL1	57626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	70413106	70413106	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atataaatccagaattaaatAcctttgttgttatccattcc	3	8	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:70413106A>T	ENST00000377844.4	-	6	2174		c.e6+1		KLHL1_ENST00000545028.1_Splice_Site	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1						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)		AGAATTAAATACCTTTGTTGT	0.343																																					.		.											.	KLHL1-90	0			c.1414+2T>A						.						91	85	87					13																	70413106		2201	4296	6497	SO:0001630	splice_region_variant	57626	exon7			TTAAATACCTTTG	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.1414+1T>A	13.37:g.70413106A>T		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	27	17	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Splice_Site	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506579	0.85282	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2513	0.73549	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL1	69311107	1.000000	0.71417	0.980000	0.43619	0.924000	0.55760	7.380000	0.79704	2.074000	0.62210	0.482000	0.46254	.	.		0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	Intron	T	70413106	A	T	70413106	5	4	10	1	0	0	0	0	0	0	1	0	8392	405	14	5	854	5	KLHL1	13	70413106	Splice_Site	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	9867929	70413106	44756772	299	2625											
TMCO3	55002	bcgsc.ca	37	chr13	114154419	114154419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagtatattttgaccaaGcccagagattcaaccatccc	5	13	1	2	rs2260159	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:114154419G>A	ENST00000434316.2	+	4	1130	c.771G>A	c.(769-771)aaG>aaA	p.K257K	TMCO3_ENST00000375391.1_Silent_p.K257K|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	257						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTTGACCAAGCCCAGAGATT	0.463													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		16314	0.1488		0.1292	False		,,,				2504	0.1053				p.K257K		.											.	TMCO3-90	0			c.G771A						.	G		1511,2895	481.5+/-359.1	256,999,948	119	120	120		771	1.5	0.9	13	dbSNP_100	120	1086,7514	226.2+/-262.0	62,962,3276	yes	coding-synonymous	TMCO3	NM_017905.4		318,1961,4224	AA,AG,GG		12.6279,34.2941,19.9677		257/678	114154419	2597,10409	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon4			GACCAAGCCCAGA	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.771G>A	13.37:g.114154419G>A		Somatic	163	2		WXS	Illumina GAIIx	Phase_I	147	6	NM_017905	0	0	10	10	0	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			G|0.796;A|0.204		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114154419	G	A	114154419	2	1	10	1	0	0	0	0	0	0	0	1	16044	962	34	3		3	TMCO3	13	114154419	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	43741313	114154419	1015459	300	2626											
POTEM	641455	bcgsc.ca	37	chr14	20020123	20020123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctccccctgcaccagGggaagcagtggcggcaccac	13	17	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:20020123G>T	ENST00000551509.1	-	1	149	c.98C>A	c.(97-99)cCc>cAc	p.P33H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	33										endometrium(4)|kidney(1)|lung(4)	9						CCTGCACCAGGGGAAGCAGTG	0.587																																					p.P33H		.											.	.	0			c.C98A						.						3	5	4					14																	20020123		64	395	459	SO:0001583	missense	641455	exon1			CACCAGGGGAAGC		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.98C>A	14.37:g.20020123G>T	ENSP00000452296:p.Pro33His	Somatic	636	4		WXS	Illumina GAIIx	Phase_I	902	201	NM_001145442	0	0	0	0	0		Missense_Mutation	SNP	ENST00000551509.1	37	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	8.932	0.963612	0.18583	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.32023	1.47	.	.	.	.	.	.	.	.	T	0.37100	0.0991	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.19647	-1.0299	6	.	.	.	.	.	.	.	.	33	A6NI47	POTEM_HUMAN	H	33	ENSP00000452296:P33H	.	P	-	2	0	POTEM	19090123	0.001000	0.12720	0.035000	0.18076	0.033000	0.12548	-0.238000	0.08977	0.269000	0.21961	0.274000	0.19336	CCC	.		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		T	20020123	G	T	20020123	3	4	10	1	0	0	0	0	1	0	0	0	12307	1232	43	3	1468	3	POTEM	14	20020123	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		20020123	87329417	301	2627											
DCAF11	80344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	24584856	24584856	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggtccggagacccctccgAgggcttgccccgaagagggg	17	14	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:24584856A>T	ENST00000446197.3	+	2	780	c.53A>T	c.(52-54)gAg>gTg	p.E18V	NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.E18V|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.E18V|DCAF11_ENST00000396936.1_De_novo_Start_InFrame	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	18					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GACCCCTCCGAGGGCTTGCCC	0.622																																					p.E18V		.											.	.	0			c.A53T						.						61	69	66					14																	24584856		2203	4300	6503	SO:0001583	missense	80344	exon2			CCTCCGAGGGCTT	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.53A>T	14.37:g.24584856A>T	ENSP00000415556:p.Glu18Val	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	69	20	NM_181357	0	0	1	6	5	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666819	0.47677	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T;T	0.69040	0.25;-0.37	5.69	5.69	0.88448	.	0.257049	0.37530	N	0.002053	T	0.72170	0.3427	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.968;0.981	D;D	0.72625	0.978;0.95	T	0.72975	-0.4128	10	0.45353	T	0.12	-0.208	13.891	0.63738	1.0:0.0:0.0:0.0	.	18;18	Q8TEB1-2;Q8TEB1	.;DCA11_HUMAN	V	18	ENSP00000415556:E18V;ENSP00000380146:E18V	ENSP00000323680:E18V	E	+	2	0	DCAF11	23654696	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.692000	0.54727	2.162000	0.67917	0.397000	0.26171	GAG	.		0.622	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			T	24584856	A	T	24584856	3	4	10	1	0	0	0	0	1	0	0	0	4271	304	11	5	55	5	DCAF11	14	24584856	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	4564733	24584856	82764684	302	2628											
FOXG1	2290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	29237443	29237443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtccctgcaccaccccCgcgccagcagcactttgagt	8	19	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:29237443C>A	ENST00000313071.4	+	1	1157	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R320S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	320				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCACCACCCCCGCGCCAGCAG	0.662																																					p.R320S		.											.	FOXG1-660	0			c.C958A						.						77	86	83					14																	29237443		2203	4300	6503	SO:0001583	missense	2290	exon1			CACCCCCGCGCCA		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.958C>A	14.37:g.29237443C>A	ENSP00000339004:p.Arg320Ser	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	130	46	NM_005249	0	0	0	0	0	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310087	0.60414	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93076	-3.16;-3.16	4.05	4.05	0.47172	.	0.130853	0.46145	U	0.000311	D	0.91613	0.7350	N	0.24115	0.695	0.50039	D	0.999848	D	0.63880	0.993	P	0.57152	0.814	D	0.89247	0.3588	10	0.16420	T	0.52	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	320	P55316	FOXG1_HUMAN	S	320	ENSP00000371975:R320S;ENSP00000339004:R320S	ENSP00000339004:R320S	R	+	1	0	FOXG1	28307194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.762000	0.55250	1.957000	0.56846	0.491000	0.48974	CGC	.		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			A	29237443	C	A	29237443	3	1	10	1	0	0	0	0	1	0	0	0	6031	652	23	2	960	2	FOXG1	14	29237443	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4652587	29237443	78112097	303	2629											
LRFN5	145581	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	42356008	42356008	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggaactgcggttggcagaCaattttgttacaaatattaa	10	5	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:42356008C>G	ENST00000298119.4	+	3	1369	c.180C>G	c.(178-180)gaC>gaG	p.D60E	LRFN5_ENST00000554120.1_Missense_Mutation_p.D60E|LRFN5_ENST00000554171.1_Missense_Mutation_p.D60E	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	60						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTTGGCAGACAATTTTGTTA	0.383										HNSCC(30;0.082)																											p.D60E		.											.	LRFN5-97	0			c.C180G						.						58	54	56					14																	42356008		2203	4300	6503	SO:0001583	missense	145581	exon3			GGCAGACAATTTT	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.180C>G	14.37:g.42356008C>G	ENSP00000298119:p.Asp60Glu	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	93	30	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081037	0.36758	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52295	0.67;0.67;0.67	5.56	4.66	0.58398	.	0.000000	0.64402	D	0.000012	T	0.42314	0.1197	N	0.21097	0.63	0.46542	D	0.999093	P;P	0.49961	0.84;0.93	P;P	0.56088	0.584;0.791	T	0.10800	-1.0614	10	0.13108	T	0.6	.	9.0855	0.36579	0.0:0.8331:0.0:0.1669	.	60;60	G3V364;Q96NI6	.;LRFN5_HUMAN	E	60	ENSP00000298119:D60E;ENSP00000451897:D60E;ENSP00000451067:D60E	ENSP00000298119:D60E	D	+	3	2	LRFN5	41425758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.245000	0.32790	2.595000	0.87683	0.650000	0.86243	GAC	.		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		G	42356008	C	G	42356008	3	3	10	1	0	0	0	0	1	0	0	0	8976	477	17	3	182	3	LRFN5	14	42356008	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13118565	42356008	64993532	304	2630											
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	45645661	45645661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctgttacctttgatttagGattctgtagtccagattctg	8	7	3	2	rs146490925		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:45645661G>T	ENST00000267430.5	+	14	3789	c.3704G>T	c.(3703-3705)gGa>gTa	p.G1235V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1209V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1235					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTGATTTAGGATTCTGTAGT	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G1235V		.											.	FANCM-569	0			c.G3704T						.	G	VAL/GLY	0,4406		0,0,2203	85	85	85		3704	5.6	1	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCM	NM_020937.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	1235/2049	45645661	1,13005	2203	4300	6503	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ATTTAGGATTCTG	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3704G>T	14.37:g.45645661G>T	ENSP00000267430:p.Gly1235Val	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	23	7	NM_020937	0	0	0	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.699971|3.699971	0.68501|0.68501	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.66099|.	0.89;0.84;-0.19|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.168215|.	0.52532|.	D|.	0.000070|.	T|T	0.72803|0.72803	0.3506|0.3506	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.72075|.	0.922;0.976|.	T|T	0.70737|0.70737	-0.4790|-0.4790	10|5	0.87932|.	D|.	0|.	.|.	17.1205|17.1205	0.86700|0.86700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1209;1235|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	V|S	1235;1209;751|167	ENSP00000267430:G1235V;ENSP00000442493:G1209V;ENSP00000452033:G751V|.	ENSP00000267430:G1235V|.	G|R	+|+	2|3	0|2	FANCM|FANCM	44715411|44715411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	6.196000|6.196000	0.72094|0.72094	2.633000|2.633000	0.89246|0.89246	0.591000|0.591000	0.81541|0.81541	GGA|AGG	G|1.000;T|0.000		0.343	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45645661	G	T	45645661	3	4	10	1	0	0	0	0	1	0	0	0	5693	1174	41	3	3758	3	FANCM	14	45645661	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3289653	45645661	61703879	305	2631											
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52923853	52923853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaattccagtgataacatatCcttttaggtagtttcctgct	6	8	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:52923853C>G	ENST00000281741.4	-	17	2029	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	553					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)					GATAACATATCCTTTTAGGTA	0.284																																					p.G553A		.											.	TXNDC16-22	0			c.G1658C						.						82	92	89					14																	52923853		2197	4277	6474	SO:0001583	missense	57544	exon17			ACATATCCTTTTA	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.1658G>C	14.37:g.52923853C>G	ENSP00000281741:p.Gly553Ala	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	61	23	NM_020784	0	0	0	0	0	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015968	0.75161	.	.	ENSG00000087301	ENST00000281741	T	0.34667	1.35	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.71581	2.175	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.62642	-0.6811	10	0.66056	D	0.02	-33.795	15.4717	0.75443	0.0:1.0:0.0:0.0	.	548;553	B7ZME4;Q9P2K2	.;TXD16_HUMAN	A	553	ENSP00000281741:G553A	ENSP00000281741:G553A	G	-	2	0	TXNDC16	51993603	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	3.978000	0.56881	2.509000	0.84616	0.557000	0.71058	GGA	.		0.284	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		G	52923853	C	G	52923853	3	3	10	1	0	0	0	0	1	0	0	0	16844	855	30	3	839	3	TXNDC16	14	52923853	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7278192	52923853	54425687	306	2632											
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	53004373	53004373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtatcttgatatttcTtctttgacacaattaacctt	3	10	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:53004373T>C	ENST00000281741.4	-	5	632	c.261A>G	c.(259-261)gaA>gaG	p.E87E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	87					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)					TTGATATTTCTTCTTTGACAC	0.303																																					p.E87E		.											.	TXNDC16-22	0			c.A261G						.						96	93	94					14																	53004373		2190	4292	6482	SO:0001819	synonymous_variant	57544	exon5			TATTTCTTCTTTG	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.261A>G	14.37:g.53004373T>C		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	29	5	NM_020784	0	0	0	0	0	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	CCDS32083.1																																																																																			.		0.303	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		C	53004373	T	C	53004373	2	2	10	1	0	0	0	0	0	0	0	1	16844	1606	56	4		4	TXNDC16	14	53004373	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	80520	53004373	54345167	307	2633											
DACT1	51339	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	59113119	59113119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggcccagccctccaggGgctggagaacggcttgccca	14	17	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:59113119G>T	ENST00000335867.4	+	4	1802	c.1778G>T	c.(1777-1779)gGg>gTg	p.G593V	DACT1_ENST00000541264.2_Missense_Mutation_p.G312V|DACT1_ENST00000395153.3_Missense_Mutation_p.G556V|DACT1_ENST00000556859.1_Missense_Mutation_p.G312V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	593					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCCTCCAGGGGCTGGAGAAC	0.612																																					p.G593V		.											.	DACT1-291	0			c.G1778T						.						13	17	16					14																	59113119		2198	4296	6494	SO:0001583	missense	51339	exon4			TCCAGGGGCTGGA	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1778G>T	14.37:g.59113119G>T	ENSP00000337439:p.Gly593Val	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	83	26	NM_016651	0	0	0	0	0	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	4.529	0.098157	0.08681	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.73	1.15	0.20763	.	0.634264	0.15918	N	0.238265	T	0.28797	0.0714	L	0.29908	0.895	0.22240	N	0.999264	B;B	0.17038	0.01;0.02	B;B	0.16289	0.011;0.015	T	0.16541	-1.0399	10	0.36615	T	0.2	-10.8761	9.957	0.41673	0.0:0.4778:0.2801:0.2421	.	556;593	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	312;312;556;593;312	ENSP00000451598:G312V;ENSP00000378581:G312V;ENSP00000378582:G556V;ENSP00000337439:G593V;ENSP00000442850:G312V	ENSP00000337439:G593V	G	+	2	0	DACT1	58182872	0.081000	0.21417	0.010000	0.14722	0.716000	0.41182	0.548000	0.23314	-0.103000	0.12175	0.462000	0.41574	GGG	.		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		T	59113119	G	T	59113119	3	4	10	1	0	0	0	0	1	0	0	0	4231	1232	43	3	1792	3	DACT1	14	59113119	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6108746	59113119	48236421	308	2634											
TMEM30B	161291	hgsc.bcm.edu	37	chr14	61747742	61747742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgatgaaggccaggcccgCgcagaagaagagcggcagcg	17	12	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:61747742C>A	ENST00000555868.1	-	1	816	c.124G>T	c.(124-126)Gcg>Tcg	p.A42S	TMEM30B_ENST00000355702.2_Missense_Mutation_p.A42S|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	42					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GCCAGGCCCGCGCAGAAGAAG	0.682																																					p.A42S		.											.	TMEM30B-90	0			c.G124T						.						5	4	5					14																	61747742		1809	3690	5499	SO:0001583	missense	161291	exon1			GGCCCGCGCAGAA	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.124G>T	14.37:g.61747742C>A	ENSP00000450842:p.Ala42Ser	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	33	16	NM_001017970	0	0	2	2	0	B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132118	0.56828	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	5.12	5.12	0.69794	.	0.213031	0.40222	N	0.001151	T	0.32133	0.0819	N	0.17474	0.49	0.29747	N	0.836681	B	0.16396	0.017	B	0.15052	0.012	T	0.29397	-1.0013	9	0.66056	D	0.02	-12.8521	11.235	0.48936	0.1831:0.8169:0.0:0.0	.	42	Q3MIR4	CC50B_HUMAN	S	42	.	ENSP00000347930:A42S	A	-	1	0	TMEM30B	60817495	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.437000	0.34991	2.397000	0.81536	0.585000	0.79938	GCG	.		0.682	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		A	61747742	C	A	61747742	3	1	10	1	0	0	0	0	1	0	0	0	16201	768	27	2	935	2	TMEM30B	14	61747742	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2634623	61747742	45601798	309	2635											
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	68251818	68251818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaactgcagcaagggTgctgcagtaactgaagaagg	15	6	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:68251818T>A	ENST00000347230.4	-	19	3619	c.3481A>T	c.(3481-3483)Acc>Tcc	p.T1161S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T1161S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1161					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)		GCAGCAAGGGTGCTGCAGTAA	0.527																																					p.T1161S		.											.	ZFYVE26-162	0			c.A3481T						.						162	168	166					14																	68251818		2203	4300	6503	SO:0001583	missense	23503	exon19			CAAGGGTGCTGCA	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.3481A>T	14.37:g.68251818T>A	ENSP00000251119:p.Thr1161Ser	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	162	53	NM_015346	0	0	2	2	0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089955	0.55968	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.33438	1.57;1.41	5.54	5.54	0.83059	.	0.163202	0.53938	N	0.000048	T	0.22513	0.0543	L	0.41824	1.3	0.27997	N	0.935421	P;B	0.35628	0.513;0.247	B;B	0.26202	0.067;0.031	T	0.14615	-1.0466	10	0.27082	T	0.32	-16.0318	13.0512	0.58957	0.0:0.0:0.0:1.0	.	1161;1161	G3V2D8;Q68DK2	.;ZFY26_HUMAN	S	1161;1140;1161	ENSP00000251119:T1161S;ENSP00000450603:T1161S	ENSP00000251119:T1161S	T	-	1	0	ZFYVE26	67321571	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.636000	0.46545	2.098000	0.63641	0.533000	0.62120	ACC	.		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68251818	T	A	68251818	3	1	10	1	0	0	0	0	1	0	0	0	17716	1696	59	5	4234	5	ZFYVE26	14	68251818	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	6504076	68251818	39097722	310	2636											
ACTN1	87	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	69349604	69349604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacgtggtcccatttgcCattgatctcctgaggcgtga	10	12	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:69349604C>T	ENST00000193403.6	-	15	2187	c.1804G>A	c.(1804-1806)Ggc>Agc	p.G602S	ACTN1_ENST00000394419.4_Missense_Mutation_p.G602S|ACTN1_ENST00000538545.2_Missense_Mutation_p.G602S|ACTN1_ENST00000376839.3_Missense_Mutation_p.G537S|ACTN1_ENST00000438964.2_Missense_Mutation_p.G602S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	602	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCCATTTGCCATTGATCTCC	0.478																																					p.G602S		.											.	ACTN1-514	0			c.G1804A						.						193	159	170					14																	69349604		2203	4300	6503	SO:0001583	missense	87	exon15			ATTTGCCATTGAT	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1804G>A	14.37:g.69349604C>T	ENSP00000193403:p.Gly602Ser	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	117	32	NM_001102	0	0	96	195	99	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353871	0.11182	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.43	3.62	0.41486	.	0.314803	0.34223	N	0.004155	T	0.37919	0.1021	N	0.04880	-0.145	0.34466	D	0.702284	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.19391	0.025;0.001;0.001;0.002;0.002	T	0.39418	-0.9615	10	0.05620	T	0.96	.	8.3917	0.32533	0.0:0.7078:0.0:0.2922	.	233;602;602;602;249	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;ACTN1_HUMAN;.	S	602;602;602;537;602;192	ENSP00000193403:G602S;ENSP00000377941:G602S;ENSP00000414272:G602S;ENSP00000366035:G537S;ENSP00000439828:G602S;ENSP00000444422:G192S	ENSP00000193403:G602S	G	-	1	0	ACTN1	68419357	0.626000	0.27120	0.974000	0.42286	0.999000	0.98932	0.670000	0.25157	0.866000	0.35629	0.655000	0.94253	GGC	.		0.478	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		T	69349604	C	T	69349604	3	4	10	1	0	0	0	0	1	0	0	0	204	594	21	3	972	3	ACTN1	14	69349604	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1097786	69349604	37999936	311	2637											
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76349181	76349181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcttgcgcctccctgGttcccaaacccccacccaac	5	20	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:76349181G>A	ENST00000298832.9	+	30	3881	c.3676G>A	c.(3676-3678)Gtt>Att	p.V1226I	TTLL5_ENST00000557636.1_Missense_Mutation_p.V1241I|TTLL5_ENST00000556893.1_Missense_Mutation_p.V777I|TTLL5_ENST00000554510.1_Missense_Mutation_p.V735I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1226					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGCCTCCCTGGTTCCCAAACC	0.488																																					p.V1226I		.											.	TTLL5-92	0			c.G3676A						.						123	134	131					14																	76349181		2203	4300	6503	SO:0001583	missense	23093	exon30			TCCCTGGTTCCCA	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3676G>A	14.37:g.76349181G>A	ENSP00000298832:p.Val1226Ile	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	124	40	NM_015072	0	0	20	36	16	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235980	0.39498	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27402	3.79;3.87;1.67;1.68	5.9	3.03	0.35002	.	0.718295	0.12306	N	0.480697	T	0.18593	0.0446	N	0.17082	0.46	0.26394	N	0.976528	B;B;B;B	0.30914	0.144;0.3;0.075;0.089	B;B;B;B	0.29598	0.066;0.104;0.017;0.018	T	0.17379	-1.0371	10	0.59425	D	0.04	.	7.3967	0.26939	0.1388:0.2591:0.6021:0.0	.	1241;300;777;1226	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	I	300;1241;1226;777;777;735	ENSP00000450713:V1241I;ENSP00000298832:V1226I;ENSP00000452524:V777I;ENSP00000451946:V735I	ENSP00000286653:V300I	V	+	1	0	TTLL5	75418934	0.999000	0.42202	1.000000	0.80357	0.863000	0.49368	0.354000	0.20146	0.374000	0.24650	0.655000	0.94253	GTT	.		0.488	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		A	76349181	G	A	76349181	3	1	10	1	0	0	0	0	1	0	0	0	16779	1261	44	3	3790	3	TTLL5	14	76349181	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6999577	76349181	31000359	312	2638											
ASB2	51676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	94420823	94420823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctttatcaaggggtcCgcaggcctgtgagaggaagg	16	8	1	1	rs201823942		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:94420823C>T	ENST00000315988.4	-	2	662	c.174G>A	c.(172-174)gcG>gcA	p.A58A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.A106A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	58					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)	p.A58A(1)		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)		TCAAGGGGTCCGCAGGCCTGT	0.597																																					p.A106A		.											.	ASB2-228	1	Substitution - coding silent(1)	large_intestine(1)	c.G318A						.						72	64	66					14																	94420823		2203	4300	6503	SO:0001819	synonymous_variant	51676	exon4			GGGGTCCGCAGGC	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.174G>A	14.37:g.94420823C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	137	53	NM_001202429	0	0	0	0	0	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	CCDS9915.1																																																																																			C|0.999;T|0.001		0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			T	94420823	C	T	94420823	2	4	10	1	0	0	0	0	0	0	0	1	1024	639	23	1		1	ASB2	14	94420823	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	18071642	94420823	12928717	313	2639											
SERPINA12	145264	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	94955965	94955965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggcttacctcgcccaCtttcaggctgcgatgagggg	14	12	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:94955965C>A	ENST00000341228.2	-	5	1840	c.1045G>T	c.(1045-1047)Gtg>Ttg	p.V349L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.V349L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	349					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ACCTCGCCCACTTTCAGGCTG	0.592																																					p.V349L		.											.	SERPINA12-310	0			c.G1045T						.						87	71	77					14																	94955965		2203	4300	6503	SO:0001583	missense	145264	exon5			CGCCCACTTTCAG	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1045G>T	14.37:g.94955965C>A	ENSP00000342109:p.Val349Leu	Somatic	131	1		WXS	Illumina GAIIx	Phase_I	182	71	NM_173850	0	0	0	0	0		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	4.505	0.093657	0.08632	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85411	-1.98;-1.98	4.93	3.98	0.46160	Serpin domain (3);	0.119337	0.37761	N	0.001954	T	0.74959	0.3785	L	0.27944	0.81	0.37943	D	0.932383	B	0.18166	0.026	B	0.26969	0.075	T	0.72937	-0.4140	10	0.46703	T	0.11	.	7.3564	0.26721	0.1677:0.743:0.0:0.0892	.	349	Q8IW75	SPA12_HUMAN	L	349	ENSP00000451738:V349L;ENSP00000342109:V349L	ENSP00000342109:V349L	V	-	1	0	SERPINA12	94025718	0.560000	0.26570	0.986000	0.45419	0.025000	0.11179	0.362000	0.20284	2.434000	0.82447	0.561000	0.74099	GTG	.		0.592	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		A	94955965	C	A	94955965	3	1	10	1	0	0	0	0	1	0	0	0	14134	565	20	3	207	3	SERPINA12	14	94955965	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	535142	94955965	12393575	314	2640											
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	101347633	101347633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccagggcccaggaacagctCagccagctcctgggctggga	15	14	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:101347633C>A	ENST00000534062.1	-	1	3551	c.3493G>T	c.(3493-3495)Gag>Tag	p.E1165*	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1165					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGAACAGCTCAGCCAGCTCC	0.647																																					p.E1165X		.											.	RTL1-46	0			c.G3493T						.						15	21	19					14																	101347633		692	1591	2283	SO:0001587	stop_gained	388015	exon1			ACAGCTCAGCCAG		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3493G>T	14.37:g.101347633C>A	ENSP00000435342:p.Glu1165*	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	174	62	NM_001134888	0	0	0	0	0	E9PKS8	Nonsense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	39	7.455996	0.98296	.	.	ENSG00000254656	ENST00000534062	.	.	.	3.04	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.2072	0.25913	0.2651:0.7349:0.0:0.0	.	.	.	.	X	1165	.	ENSP00000435342:E1165X	E	-	1	0	RTL1	100417386	0.000000	0.05858	0.006000	0.13384	0.162000	0.22319	0.077000	0.14738	0.776000	0.33473	0.655000	0.94253	GAG	.		0.647	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		A	101347633	C	A	101347633	4	1	10	1	0	0	0	0	0	1	0	0	13769	835	29	3	587	3	RTL1	14	101347633	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	6391668	101347633	6001907	315	2641											
CDC42BPB	9578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	103430940	103430940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgactgcagctccagccgCgcggacatgtccagcttctg	12	16	1	0	rs45512495	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:103430940C>A	ENST00000361246.2	-	19	2913	c.2625G>T	c.(2623-2625)gcG>gcT	p.A875A		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)		GCTCCAGCCGCGCGGACATGT	0.587																																					p.A875A		.											.	CDC42BPB-581	0			c.G2625T						.						35	33	34					14																	103430940		2203	4300	6503	SO:0001819	synonymous_variant	9578	exon19			CAGCCGCGCGGAC	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.2625G>T	14.37:g.103430940C>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	147	47	NM_006035	0	0	2	3	1		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																			C|0.998;T|0.002		0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		A	103430940	C	A	103430940	2	1	10	1	0	0	0	0	0	0	0	1	3080	755	27	2		2	CDC42BPB	14	103430940	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2083307	103430940	3918600	316	2642											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001823	0	0	12	24	12	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	10	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	557240	103988180	3361360	317	2643											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	10	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	655919	104644099	2705441	318	2644											
ADSSL1	122622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105208191	105208191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtcttgcagggacctAcccctttgtgacttcatcca	8	14	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:105208191A>C	ENST00000330877.2	+	9	885	c.800A>C	c.(799-801)tAc>tCc	p.Y267S	ADSSL1_ENST00000332972.5_Missense_Mutation_p.Y310S	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GCAGGGACCTACCCCTTTGTG	0.597																																					p.Y310S		.											.	ADSSL1-515	0			c.A929C						.						99	99	99					14																	105208191		2203	4300	6503	SO:0001583	missense	122622	exon9			GGACCTACCCCTT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.800A>C	14.37:g.105208191A>C	ENSP00000331260:p.Tyr267Ser	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	213	70	NM_199165	0	0	0	0	0		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539374	0.85917	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.61742	0.08;0.08	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.75484	0.986;0.954	D	0.90686	0.4609	10	0.87932	D	0	-4.8816	14.3854	0.66940	1.0:0.0:0.0:0.0	.	310;267	Q8N142-2;Q8N142	.;PURA1_HUMAN	S	267;310	ENSP00000331260:Y267S;ENSP00000333019:Y310S	ENSP00000331260:Y267S	Y	+	2	0	ADSSL1	104279236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.139000	0.94554	1.868000	0.54150	0.533000	0.62120	TAC	.		0.597	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			C	105208191	A	C	105208191	3	2	10	1	0	0	0	0	1	0	0	0	348	391	14	5	1159	5	ADSSL1	14	105208191	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	564092	105208191	2141349	319	2645											
OR4N4	283694	broad.mit.edu;bcgsc.ca	37	chr15	22382673	22382673	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttctgggcaacttggcCttcctggatgcatcctactc	8	12	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483																																					p.A67A		.											.	OR4N4-73	0			c.C201A						.						150	149	149					15																	22382673		2203	4297	6500	SO:0001819	synonymous_variant	283694	exon1			CTTGGCCTTCCTG	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.201C>A	15.37:g.22382673C>A		Somatic	240	0		WXS	Illumina GAIIx	Phase_I	329	31	NM_001005241	0	0	0	0	0	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																			.		0.483	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			A	22382673	C	A	22382673	2	1	10	1	0	0	0	0	0	0	0	1	11117	668	24	3		3	OR4N4	15	22382673	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		22382673	80148719	320	2646											
NDN	4692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	23931489	23931489	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagagcttctctgtatcgGgagggccaggcctgggggtc	16	11	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:23931489G>T	ENST00000331837.4	-	1	961	c.876C>A	c.(874-876)tcC>tcA	p.S292S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	292	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)		CTCTGTATCGGGAGGGCCAGG	0.587									Prader-Willi syndrome																												p.S292S		.											.	NDN-90	0			c.C876A						.						30	35	33					15																	23931489		2203	4294	6497	SO:0001819	synonymous_variant	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	GTATCGGGAGGGC	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.876C>A	15.37:g.23931489G>T		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	26	13	NM_002487	0	0	2	2	0	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																			.		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		T	23931489	G	T	23931489	2	4	10	1	0	0	0	0	0	0	0	1	10286	1219	43	3		3	NDN	15	23931489	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1548816	23931489	78599903	321	2647											
GABRB3	2562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	26806226	26806226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacacaaagacgaagcagccCataaggtacatgtcaatggc	9	10	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:26806226C>A	ENST00000311550.5	-	8	1044	c.933G>T	c.(931-933)atG>atT	p.M311I	GABRB3_ENST00000299267.4_Missense_Mutation_p.M311I|GABRB3_ENST00000541819.2_Missense_Mutation_p.M367I|GABRB3_ENST00000400188.3_Missense_Mutation_p.M240I|GABRB3_ENST00000545868.1_Missense_Mutation_p.M226I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	311	Allosteric effector binding.				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)	CGAAGCAGCCCATAAGGTACA	0.478																																					p.M311I		.											.	GABRB3-518	0			c.G933T						.						176	167	170					15																	26806226		2203	4300	6503	SO:0001583	missense	2562	exon8			GCAGCCCATAAGG		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.933G>T	15.37:g.26806226C>A	ENSP00000308725:p.Met311Ile	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	134	56	NM_021912	0	0	0	0	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507968	0.27036	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81856	0.4911	L	0.31926	0.97	0.80722	D	1	B;B;B	0.28400	0.175;0.175;0.21	B;B;B	0.33960	0.108;0.07;0.173	T	0.81113	-0.1080	10	0.66056	D	0.02	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	367;311;311	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	311;367;311;240;226	ENSP00000308725:M311I;ENSP00000442408:M367I;ENSP00000299267:M311I;ENSP00000383049:M240I;ENSP00000439169:M226I	ENSP00000299267:M311I	M	-	3	0	GABRB3	24357319	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.707000	0.84623	2.416000	0.81992	0.655000	0.94253	ATG	.		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			A	26806226	C	A	26806226	3	1	10	1	0	0	0	0	1	0	0	0	6192	594	21	3	496	3	GABRB3	15	26806226	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2874737	26806226	75725166	322	2648											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	28422657	28422657	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcgcgtgccggccaccTgcaacattcacagacacacg	10	17	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:28422657T>C	ENST00000261609.7	-	60	9272		c.e60-2			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)		GCCGGCCACCTGCAACATTCA	0.512																																					.		.											.	HERC2-234	0			c.9164-2A>G						.						60	53	56					15																	28422657		2203	4300	6503	SO:0001630	splice_region_variant	8924	exon61			GCCACCTGCAACA	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.9164-2A>G	15.37:g.28422657T>C		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	120	52	NM_004667	0	0	0	0	0		Splice_Site	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728379	0.89390	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3429	0.83101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26096252	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.698000	0.74608	2.256000	0.74724	0.523000	0.50628	.	.		0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	C	28422657	T	C	28422657	5	2	10	1	0	0	0	0	0	0	1	0	7085	1594	55	4	5478	4	HERC2	15	28422657	Splice_Site	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	1616431	28422657	74108735	323	2649											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	33192240	33192240	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatatccatcggcttgtccCcgagtcctatttcctccatt	5	15	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:33192240C>A	ENST00000559047.1	-	11	3593	c.3594G>T	c.(3592-3594)cgG>cgT	p.R1198R	FMN1_ENST00000561249.1_Silent_p.R1100R|FMN1_ENST00000334528.9_Silent_p.R975R			Q68DA7	FMN1_HUMAN	formin 1	1198	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)		CGGCTTGTCCCCGAGTCCTAT	0.408																																					p.R975R		.											.	FMN1-23	0			c.G2925T						.						168	174	172					15																	33192240		1842	4085	5927	SO:0001819	synonymous_variant	342184	exon10			TTGTCCCCGAGTC	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.3594G>T	15.37:g.33192240C>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	64	19	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																				.		0.408	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		A	33192240	C	A	33192240	2	1	10	1	0	0	0	0	0	0	0	1	5971	610	22	3		3	FMN1	15	33192240	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	4769583	33192240	69339152	324	2650											
INO80	54617	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	41313297	41313297	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacttcggtcattgcaGtaagaatccaatggcactgc	9	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:41313297G>C	ENST00000361937.3	-	26	3499	c.3075C>G	c.(3073-3075)taC>taG	p.Y1025*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Y1025*|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1025	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTCATTGCAGTAAGAATCCA	0.488																																					p.Y1025X		.											.	INO80-72	0			c.C3075G						.						76	70	72					15																	41313297		2203	4300	6503	SO:0001587	stop_gained	54617	exon26			ATTGCAGTAAGAA	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.3075C>G	15.37:g.41313297G>C	ENSP00000355205:p.Tyr1025*	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	97	35	NM_017553	0	0	4	7	3	A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	40	8.487895	0.98834	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.14	-0.0364	0.13888	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0537	0.42233	0.3382:0.0:0.6618:0.0	.	.	.	.	X	1025	.	ENSP00000355205:Y1025X	Y	-	3	2	INO80	39100589	0.998000	0.40836	0.995000	0.50966	0.986000	0.74619	0.399000	0.20916	-0.149000	0.11215	-0.140000	0.14226	TAC	.		0.488	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41313297	G	C	41313297	4	2	10	1	0	0	0	0	0	1	0	0	7773	1024	36	3	1639	3	INO80	15	41313297	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	8121057	41313297	61218095	325	2651											
FBN1	2200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	48714179	48714179	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtatggtgttgggtaaatcCgggaggacatttgcatgtga	15	5	0	1	rs363811	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:48714179C>A	ENST00000316623.5	-	61	7995	c.7540G>T	c.(7540-7542)Gga>Tga	p.G2514*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2514	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGGTAAATCCGGGAGGACAT	0.428																																					p.G2514X		.											.	FBN1-92	0			c.G7540T	GRCh37	CM025900|CM077253	FBN1	M	rs363811	.						109	93	99					15																	48714179		2198	4296	6494	SO:0001587	stop_gained	2200	exon61			TAAATCCGGGAGG	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7540G>T	15.37:g.48714179C>A	ENSP00000325527:p.Gly2514*	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	253	117	NM_000138	0	0	12	13	1	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	51	18.582208	0.99907	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	.	.	.	X	2514	.	ENSP00000325527:G2514X	G	-	1	0	FBN1	46501471	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA	C|0.994;T|0.006		0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48714179	C	A	48714179	4	1	10	1	0	0	0	0	0	1	0	0	5724	661	23	2	1099	2	FBN1	15	48714179	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7400882	48714179	53817213	326	2652											
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	50888468	50888468	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttacttgaaaaatgcaataaGaagattaaccataatgatat	5	4	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:50888468G>C	ENST00000313478.7	-	23	3555	c.3274C>G	c.(3274-3276)Ctt>Gtt	p.L1092V	TRPM7_ENST00000560955.1_Missense_Mutation_p.L1092V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1092					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATGCAATAAGAAGATTAACC	0.303																																					p.L1092V		.											.	TRPM7-392	0			c.C3274G						.						55	53	53					15																	50888468		1828	4079	5907	SO:0001583	missense	54822	exon23			CAATAAGAAGATT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3274C>G	15.37:g.50888468G>C	ENSP00000320239:p.Leu1092Val	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	152	52	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832847	0.91036	.	.	ENSG00000092439	ENST00000313478	D	0.98835	-5.17	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.84433	2.695	0.80722	D	1	D	0.55172	0.97	P	0.51974	0.686	D	0.99827	1.1051	10	0.87932	D	0	-19.8898	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1092	Q96QT4	TRPM7_HUMAN	V	1092	ENSP00000320239:L1092V	ENSP00000320239:L1092V	L	-	1	0	TRPM7	48675760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	CTT	.		0.303	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50888468	G	C	50888468	3	2	10	1	0	0	0	0	1	0	0	0	16639	942	33	3	2391	3	TRPM7	15	50888468	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2174289	50888468	51642924	327	2653											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63054564	63054564	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgctctctggccatcAaccccaaagacccacccacc	5	21	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:63054564A>T	ENST00000561311.1	+	38	5103	c.4873A>T	c.(4873-4875)Aac>Tac	p.N1625Y	TLN2_ENST00000306829.6_Missense_Mutation_p.N1625Y|TLN2_ENST00000472902.1_Missense_Mutation_p.N18Y			Q9Y4G6	TLN2_HUMAN	talin 2	1625					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						TCTGGCCATCAACCCCAAAGA	0.542																																					p.N1625Y		.											.	TLN2-573	0			c.A4873T						.						245	211	223					15																	63054564		2203	4300	6503	SO:0001583	missense	83660	exon36			GCCATCAACCCCA	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.4873A>T	15.37:g.63054564A>T	ENSP00000453508:p.Asn1625Tyr	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	234	86	NM_015059	0	0	1	1	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653734	0.88056	.	.	ENSG00000171914	ENST00000306829	T	0.14391	2.51	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.82056	2.57	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39522	-0.9610	10	0.72032	D	0.01	-25.7753	15.086	0.72155	1.0:0.0:0.0:0.0	.	669;1625	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Y	1625	ENSP00000303476:N1625Y	ENSP00000303476:N1625Y	N	+	1	0	TLN2	60841856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.966000	0.57179	0.533000	0.62120	AAC	.		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63054564	A	T	63054564	3	4	10	1	0	0	0	0	1	0	0	0	15995	130	5	5	5015	5	TLN2	15	63054564	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	12166096	63054564	39476828	328	2654											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	10	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	359519	63414083	39117309	329	2655											
MTFMT	123263	hgsc.bcm.edu	37	chr15	65321938	65321938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccccaacagcgccgcAccaacaccctcatcgcctcg	8	20	1	0	rs2946655	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:65321938A>G	ENST00000220058.4	-	1	27	c.14T>C	c.(13-15)gTg>gCg	p.V5A	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	5			V -> A (in dbSNP:rs2946655).			mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACAGCGCCGCACCAACACCCT	0.756													A|||	338	0.067492	0.1641	0.0389	5008	,	,		7250	0.0169		0.0398	False		,,,				2504	0.0378				p.V5A		.											.	MTFMT-24	0			c.T14C						.	A	ALA/VAL	143,1983		1,141,921	2	2	2		14	-4.2	0	15	dbSNP_101	2	108,5112		0,108,2502	no	missense	MTFMT	NM_139242.3	64	1,249,3423	GG,GA,AA		2.069,6.7262,3.4168	benign	5/390	65321938	251,7095	1063	2610	3673	SO:0001583	missense	123263	exon1			CGCCGCACCAACA	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.14T>C	15.37:g.65321938A>G	ENSP00000220058:p.Val5Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_139242	0	0	0	4	4	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	124	0.056776556776556776	72	0.14634146341463414	16	0.04419889502762431	11	0.019230769230769232	25	0.032981530343007916	A	12.07	1.827975	0.32329	0.067262	0.02069	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.66280	-0.14;-0.2	4.72	-4.22	0.03800	.	1.925310	0.03217	N	0.176917	T	0.00271	0.0008	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03344	-1.1046	9	0.27785	T	0.31	-0.3296	6.2961	0.21087	0.233:0.3076:0.4595:0.0	rs2946655;rs2946655	5	Q96DP5	FMT_HUMAN	A	5	ENSP00000220058:V5A;ENSP00000443754:V5A	ENSP00000220058:V5A	V	-	2	0	MTFMT	63108991	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.089000	0.15002	-0.347000	0.08299	0.524000	0.50904	GTG	A|0.942;G|0.058		0.756	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		G	65321938	A	G	65321938	3	3	10	1	0	0	0	0	1	0	0	0	9962	159	6	4	1191	4	MTFMT	15	65321938	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	1907855	65321938	37209454	330	2656											
IGDCC4	57722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65687496	65687496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcccagctgggagtaggcCaccacgtagaactcataatc	10	13	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:65687496C>A	ENST00000352385.2	-	8	1721	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	504	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGAGTAGGCCACCACGTAGA	0.567																																					p.V504V		.											.	IGDCC4-93	0			c.G1512T						.						94	89	91					15																	65687496		2201	4299	6500	SO:0001819	synonymous_variant	57722	exon8			GTAGGCCACCACG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1512G>T	15.37:g.65687496C>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	175	65	NM_020962	0	0	0	0	0	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																			.		0.567	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		A	65687496	C	A	65687496	2	1	10	1	0	0	0	0	0	0	0	1	7596	581	21	3		3	IGDCC4	15	65687496	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	365558	65687496	36843896	331	2657											
C15orf60	283677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	73766261	73766261	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaggacagacactacTggtaggttttatgcataaca	8	8	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:73766261T>A	ENST00000331090.6	+	2	276	c.248T>A	c.(247-249)cTg>cAg	p.L83Q	C15orf60_ENST00000560581.1_Splice_Site_p.L83Q	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		83					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CAGACACTACTGGTAGGTTTT	0.343																																					p.L83Q		.											.	C15orf60-46	0			c.T248A						.						101	90	93					15																	73766261		1845	4083	5928	SO:0001630	splice_region_variant	283677	exon2			CACTACTGGTAGG																												ENST00000331090.6:c.249+1T>A	15.37:g.73766261T>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	48	10	NM_001042367	0	0	0	0	0		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.691086	0.68271	.	.	ENSG00000183324	ENST00000331090	T	0.54479	0.57	5.56	5.56	0.83823	.	0.079876	0.52532	D	0.000080	T	0.69360	0.3102	M	0.68952	2.095	0.36212	D	0.851403	D	0.89917	1.0	D	0.91635	0.999	T	0.77981	-0.2383	10	0.87932	D	0	-3.4463	12.1065	0.53816	0.0:0.0:0.0:1.0	.	83	Q7Z4M0	CO060_HUMAN	Q	83	ENSP00000328423:L83Q	ENSP00000328423:L83Q	L	+	2	0	C15orf60	71553314	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.118000	0.50414	2.116000	0.64780	0.455000	0.32223	CTG	.		0.343	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		Missense_Mutation	A	73766261	T	A	73766261	5	1	10	1	0	0	0	0	0	0	1	0	1813	1594	55	5	254	5	C15orf60	15	73766261	Splice_Site	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	8078765	73766261	28765131	332	2658											
TBC1D21	161514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74180025	74180025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacagcatgctgcagaTggtgcgggagcaggtgctgc	17	10	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:74180025T>C	ENST00000300504.2	+	9	925	c.842T>C	c.(841-843)aTg>aCg	p.M281T	TBC1D21_ENST00000535547.2_Missense_Mutation_p.M245T|TBC1D21_ENST00000562056.1_Missense_Mutation_p.M244T	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	281						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ATGCTGCAGATGGTGCGGGAG	0.642																																					p.M281T		.											.	TBC1D21-92	0			c.T842C						.						100	82	88					15																	74180025		2198	4297	6495	SO:0001583	missense	161514	exon9			TGCAGATGGTGCG	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.842T>C	15.37:g.74180025T>C	ENSP00000300504:p.Met281Thr	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	164	41	NM_153356	0	0	0	0	0	B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	T	5.147	0.212664	0.09757	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.10668	2.85;2.85	4.56	4.56	0.56223	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000002	T	0.08714	0.0216	L	0.29908	0.895	0.37693	D	0.923936	P;P	0.48589	0.811;0.912	B;B	0.44315	0.348;0.446	T	0.29731	-1.0002	10	0.10636	T	0.68	.	10.6097	0.45415	0.0:0.0:0.0:1.0	.	245;281	B9A6M2;Q8IYX1	.;TBC21_HUMAN	T	281;245	ENSP00000300504:M281T;ENSP00000439325:M245T	ENSP00000300504:M281T	M	+	2	0	TBC1D21	71967078	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.616000	0.46376	1.829000	0.53265	0.533000	0.62120	ATG	.		0.642	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		C	74180025	T	C	74180025	3	2	10	1	0	0	0	0	1	0	0	0	15657	1464	51	4	876	4	TBC1D21	15	74180025	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	413764	74180025	28351367	333	2659											
CSPG4	1464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	75969502	75969502	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccccaccgccgtgggcAtacactagctgccctgcagc	11	18	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:75969502A>T	ENST00000308508.5	-	10	5450	c.5358T>A	c.(5356-5358)taT>taA	p.Y1786*	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	1786	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						CGCCGTGGGCATACACTAGCT	0.687																																					p.Y1786X		.											.	CSPG4-229	0			c.T5358A						.						8	10	10					15																	75969502		2175	4279	6454	SO:0001587	stop_gained	1464	exon10			GTGGGCATACACT	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.5358T>A	15.37:g.75969502A>T	ENSP00000312506:p.Tyr1786*	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	18	4	NM_001897	0	0	2	2	0	D3DW77|Q92675	Nonsense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	A	39	7.608490	0.98387	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.39	-0.912	0.10504	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1764	0.42941	0.3318:0.0:0.6682:0.0	.	.	.	.	X	1786	.	ENSP00000312506:Y1786X	Y	-	3	2	CSPG4	73756557	0.000000	0.05858	0.763000	0.31416	0.053000	0.15095	-1.256000	0.02869	-0.538000	0.06281	-0.366000	0.07423	TAT	.		0.687	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75969502	A	T	75969502	4	4	10	1	0	0	0	0	0	1	0	0	3969	224	8	5	1614	5	CSPG4	15	75969502	Nonsense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	1789477	75969502	26561890	334	2660											
ADAMTS7	11173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	79063945	79063945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggatccagacaggctcCttggtgggacccggggacgt	15	12	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:79063945C>T	ENST00000388820.4	-	15	2568	c.2358G>A	c.(2356-2358)aaG>aaA	p.K786K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	786	Spacer.				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						AGACAGGCTCCTTGGTGGGAC	0.682																																					p.K786K		.											.	ADAMTS7-226	0			c.G2358A						.						13	15	15					15																	79063945		2167	4200	6367	SO:0001819	synonymous_variant	11173	exon15			AGGCTCCTTGGTG	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.2358G>A	15.37:g.79063945C>T		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	36	13	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			.		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79063945	C	T	79063945	2	4	10	1	0	0	0	0	0	0	0	1	271	680	24	3		3	ADAMTS7	15	79063945	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	3094443	79063945	23467447	335	2661											
TMC3	342125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81624991	81624991	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccctctgggcttcagaggGggctgtgggtattggaaatt	15	7	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:81624991G>T	ENST00000359440.5	-	22	3207	c.3072C>A	c.(3070-3072)ccC>ccA	p.P1024P	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Silent_p.P1025P	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCTTCAGAGGGGGCTGTGGGT	0.572																																					p.P1024P		.											.	TMC3-70	0			c.C3072A						.						41	48	45					15																	81624991		2033	4210	6243	SO:0001819	synonymous_variant	342125	exon22			CAGAGGGGGCTGT	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3072C>A	15.37:g.81624991G>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	276	78	NM_001080532	0	0	1	1	0		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																			.		0.572	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81624991	G	T	81624991	2	4	10	1	0	0	0	0	0	0	0	1	16033	1219	43	3		3	TMC3	15	81624991	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2561046	81624991	20906401	336	2662											
ZNF592	9640	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	85327349	85327349	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaggctcacagacaggcaaGaagcaacagagcacagcact	10	13	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:85327349G>C	ENST00000560079.2	+	4	1731	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	ZNF592_ENST00000299927.3_Missense_Mutation_p.K481N	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	481					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACAGGCAAGAAGCAACAGA	0.637																																					p.K481N		.											.	ZNF592-96	0			c.G1443C						.						55	45	48					15																	85327349		2203	4299	6502	SO:0001583	missense	9640	exon4			AGGCAAGAAGCAA	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1443G>C	15.37:g.85327349G>C	ENSP00000452877:p.Lys481Asn	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	93	37	NM_014630	0	0	1	1	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967248	0.34754	.	.	ENSG00000166716	ENST00000299927	T	0.00623	6.15	5.36	1.37	0.22104	.	0.472591	0.24373	N	0.039083	T	0.00468	0.0015	N	0.08118	0	0.39109	D	0.961444	P	0.42203	0.773	B	0.39465	0.3	T	0.80564	-0.1326	10	0.44086	T	0.13	-10.2644	8.1152	0.30940	0.4166:0.0:0.5834:0.0	.	481	Q92610	ZN592_HUMAN	N	481	ENSP00000299927:K481N	ENSP00000299927:K481N	K	+	3	2	ZNF592	83128353	1.000000	0.71417	0.978000	0.43139	0.723000	0.41478	1.375000	0.34295	0.260000	0.21731	0.655000	0.94253	AAG	.		0.637	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		C	85327349	G	C	85327349	3	2	10	1	0	0	0	0	1	0	0	0	18070	933	33	3	1445	3	ZNF592	15	85327349	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3702358	85327349	17204043	337	2663											
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86791011	86791011	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctacgtgcagatccgacgGggcttgctgctctgcctcag	13	14	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:86791011G>T	ENST00000441037.2	+	6	593	c.498G>T	c.(496-498)cgG>cgT	p.R166R	AGBL1_ENST00000421325.2_Silent_p.R166R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	166					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGATCCGACGGGGCTTGCTGC	0.652																																					p.R166R		.											.	.	0			c.G498T						.						41	43	43					15																	86791011		2151	4260	6411	SO:0001819	synonymous_variant	123624	exon6			CCGACGGGGCTTG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.498G>T	15.37:g.86791011G>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	172	58	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			.		0.652	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86791011	G	T	86791011	2	4	10	1	0	0	0	0	0	0	0	1	375	1219	43	3		3	AGBL1	15	86791011	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1463662	86791011	15740381	338	2664											
FES	2242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	91436336	91436336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagtgccctccaggatcctGaagcagtacagccaccccaa	9	16	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:91436336G>A	ENST00000328850.3	+	15	1975	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	FES_ENST00000414248.2_Silent_p.L483L|FES_ENST00000450438.2_Silent_p.L483L|FES_ENST00000444422.2_Silent_p.L541L|FES_ENST00000394302.1_Intron|FES_ENST00000394300.3_Silent_p.L553L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCAGGATCCTGAAGCAGTACA	0.632																																					p.L611L		.											.	FES-546	0			c.G1833A						.						117	85	96					15																	91436336		2198	4298	6496	SO:0001819	synonymous_variant	2242	exon15			GATCCTGAAGCAG	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1833G>A	15.37:g.91436336G>A		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	148	58	NM_002005	0	0	0	0	0	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																			.		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		A	91436336	G	A	91436336	2	1	10	1	0	0	0	0	0	0	0	1	5842	1277	45	3		3	FES	15	91436336	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4645325	91436336	11095056	339	2665											
CHD2	1106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	93499776	93499776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actctttattgtataaaactCtgattgatttcaagtccaac	4	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:93499776C>G	ENST00000394196.4	+	16	2965	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	CHD2_ENST00000557381.1_Missense_Mutation_p.L633V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	633	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			GTATAAAACTCTGATTGATTT	0.448																																					p.L633V		.											.	CHD2-229	0			c.C1897G						.						114	113	113					15																	93499776		2197	4297	6494	SO:0001583	missense	1106	exon16			AAAACTCTGATTG	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.1897C>G	15.37:g.93499776C>G	ENSP00000377747:p.Leu633Val	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_001271	0	0	0	0	0	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139490	0.56936	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.93547	-3.24;-3.24	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.27710	U	0.018167	D	0.94909	0.8354	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.71414	0.94;0.973	D	0.94654	0.7842	10	0.87932	D	0	-10.3973	10.5441	0.45050	0.0:0.8821:0.0:0.1179	.	633;633	O14647;O14647-2	CHD2_HUMAN;.	V	633	ENSP00000377747:L633V;ENSP00000451366:L633V	ENSP00000377747:L633V	L	+	1	2	CHD2	91300780	0.582000	0.26749	1.000000	0.80357	0.998000	0.95712	0.913000	0.28611	2.595000	0.87683	0.557000	0.71058	CTG	.		0.448	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		G	93499776	C	G	93499776	3	3	10	1	0	0	0	0	1	0	0	0	3332	912	32	3	1959	3	CHD2	15	93499776	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2063440	93499776	9031616	340	2666											
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	100636657	100636657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctttggctgcagaccCgatgatgccgtcacagccga	11	14	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:100636657C>A	ENST00000268070.4	-	15	2146	c.2041G>T	c.(2041-2043)Ggg>Tgg	p.G681W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	681	Cys-rich.					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)		GCTGCAGACCCGATGATGCCG	0.567																																					p.G681W		.											.	ADAMTS17-228	0			c.G2041T						.						91	100	97					15																	100636657		2203	4300	6503	SO:0001583	missense	170691	exon15			CAGACCCGATGAT	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.2041G>T	15.37:g.100636657C>A	ENSP00000268070:p.Gly681Trp	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	115	29	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204455	0.79127	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.71461	-0.57	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91402	0.5144	10	0.87932	D	0	.	17.6927	0.88272	0.0:1.0:0.0:0.0	.	438;681	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	W	681;438	ENSP00000268070:G681W	ENSP00000268070:G681W	G	-	1	0	ADAMTS17	98454180	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	6.694000	0.74587	2.466000	0.83321	0.655000	0.94253	GGG	.		0.567	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100636657	C	A	100636657	3	1	10	1	0	0	0	0	1	0	0	0	262	652	23	2	1278	2	ADAMTS17	15	100636657	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	7136881	100636657	1894735	341	2667											
CACNA1H	8912	bcgsc.ca	37	chr16	1256150	1256150	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggtggcttgtctgtgctgCgcaccttccggctgctgcgt	14	13	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:1256150C>A	ENST00000348261.5	+	12	2898	c.2650C>A	c.(2650-2652)Cgc>Agc	p.R884S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R884S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R884S|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	884					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTCTGTGCTGCGCACCTTCCG	0.687																																					p.R884S		.											.	CACNA1H-67	0			c.C2650A						.						22	30	28					16																	1256150		2077	4189	6266	SO:0001583	missense	8912	exon12			GTGCTGCGCACCT	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2650C>A	16.37:g.1256150C>A	ENSP00000334198:p.Arg884Ser	Somatic	23	1		WXS	Illumina GAIIx	Phase_I	104	70	NM_021098	0	0	0	0	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931495	0.52866	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98567	-5.0;-5.0	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	H	0.97635	4.045	0.38682	D	0.952554	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99353	1.0915	10	0.87932	D	0	.	10.4562	0.44553	0.3241:0.6759:0.0:0.0	.	884;884	O95180-2;O95180	.;CAC1H_HUMAN	S	884	ENSP00000334198:R884S;ENSP00000351401:R884S	ENSP00000334198:R884S	R	+	1	0	CACNA1H	1196151	0.812000	0.29077	0.997000	0.53966	0.163000	0.22366	0.736000	0.26130	2.050000	0.60909	0.561000	0.74099	CGC	.		0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1256150	C	A	1256150	3	1	10	1	0	0	0	0	1	0	0	0	2552	768	27	2	2692	2	CACNA1H	16	1256150	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		1256150	89098603	342	2668											
PTX4	390667	hgsc.bcm.edu	37	chr16	1537601	1537601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggcagccgcccctccAgagcagccagcctggcgccc	12	21	0	1	rs2667674	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:1537601A>G	ENST00000447419.2	-	2	537	c.512T>C	c.(511-513)cTg>cCg	p.L171P	PTX4_ENST00000293922.1_Missense_Mutation_p.L166P|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	171						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCGCCCCTCCAGAGCAGCCAG	0.731													A|||	341	0.0680911	0.0719	0.0634	5008	,	,		14003	0.0526		0.0875	False		,,,				2504	0.0624				p.L166P		.											.	PTX4-90	0			c.T497C						.	A	PRO/LEU	253,4059		9,235,1912	11	14	13		497	4	0	16	dbSNP_100	13	771,7671		29,713,3479	no	missense	PTX4	NM_001013658.1	98	38,948,5391	GG,GA,AA		9.1329,5.8673,8.0289	probably-damaging	166/474	1537601	1024,11730	2156	4221	6377	SO:0001583	missense	390667	exon2			CCCTCCAGAGCAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.512T>C	16.37:g.1537601A>G	ENSP00000445277:p.Leu171Pro	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	13	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		158	0.07234432234432235	30	0.06097560975609756	26	0.0718232044198895	28	0.04895104895104895	74	0.09762532981530343	A	11.77	1.737133	0.30774	0.058673	0.091329	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09630	3.08;2.96	5.1	3.99	0.46301	.	0.583371	0.15824	N	0.242871	T	0.00637	0.0021	L	0.52573	1.65	0.37568	P	0.08066399999999996	D	0.89917	1.0	D	0.81914	0.995	T	0.03898	-1.0994	9	0.72032	D	0.01	.	9.5613	0.39371	0.9143:0.0:0.0857:0.0	rs2667674	166	Q96A99-2	.	P	171;166	ENSP00000445277:L171P;ENSP00000293922:L166P	ENSP00000293922:L166P	L	-	2	0	PTX4	1477602	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.062000	0.30555	0.861000	0.35504	0.533000	0.62120	CTG	A|0.928;G|0.072		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		G	1537601	A	G	1537601	3	3	10	1	0	0	0	0	1	0	0	0	12868	188	7	4	931	4	PTX4	16	1537601	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	281451	1537601	88817152	343	2669											
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	2815642	2815642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaggccagactgtccCgtagaagccgctctgcctca	11	14	2	2	rs146437403		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:2815642C>A	ENST00000301740.8	+	11	5662	c.5113C>A	c.(5113-5115)Cgt>Agt	p.R1705S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1705	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGACTGTCCCGTAGAAGCCG	0.582																																					p.R1705S		.											.	SRRM2-93	0			c.C5113A						.						62	54	57					16																	2815642		2198	4300	6498	SO:0001583	missense	23524	exon11			CTGTCCCGTAGAA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5113C>A	16.37:g.2815642C>A	ENSP00000301740:p.Arg1705Ser	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	52	29	NM_016333	0	0	0	15	15	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345099	0.24426	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38240	1.15	5.47	4.49	0.54785	.	0.000000	0.56097	D	0.000021	T	0.38268	0.1034	N	0.08118	0	0.34293	D	0.683451	D	0.76494	0.999	D	0.79784	0.993	T	0.55829	-0.8079	10	0.45353	T	0.12	-7.3676	13.1567	0.59522	0.1611:0.8389:0.0:0.0	.	1705	Q9UQ35	SRRM2_HUMAN	S	1705;1705;957	ENSP00000301740:R1705S	ENSP00000301740:R1705S	R	+	1	0	SRRM2	2755643	0.402000	0.25311	0.924000	0.36721	0.916000	0.54674	1.986000	0.40677	1.261000	0.44149	0.655000	0.94253	CGT	C|1.000;T|0.000		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2815642	C	A	2815642	3	1	10	1	0	0	0	0	1	0	0	0	15216	652	23	2	5151	2	SRRM2	16	2815642	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1278041	2815642	87539111	344	2670											
GTF3C1	2975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	27523098	27523098	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggtctgtgtgagcatatcCcgctcgaacacaatgtccac	9	12	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:27523098C>A	ENST00000356183.4	-	7	1113	c.1098G>T	c.(1096-1098)cgG>cgT	p.R366R	GTF3C1_ENST00000561623.1_Silent_p.R366R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	366					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						TGAGCATATCCCGCTCGAACA	0.498																																					p.R366R		.											.	GTF3C1-94	0			c.G1098T						.						201	150	168					16																	27523098		2197	4300	6497	SO:0001819	synonymous_variant	2975	exon7			CATATCCCGCTCG	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.1098G>T	16.37:g.27523098C>A		Somatic	209	1		WXS	Illumina GAIIx	Phase_I	236	162	NM_001520	0	0	0	2	2	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																			.		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27523098	C	A	27523098	2	1	10	1	0	0	0	0	0	0	0	1	6899	610	22	3		3	GTF3C1	16	27523098	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	24707456	27523098	62831655	345	2671											
IRX3	79191	hgsc.bcm.edu	37	chr16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggagagcgggtgcAggcgggggccgggcggtggg	25	9	0	1	rs1450355	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1		1	False		,,,				2504	1				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1	2	2		1265	2.5	1	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024336	0	0	0	4	4	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54318528	A	G	54318528	3	3	10	1	0	0	0	0	1	0	0	0	7872	188	7	4	252	4	IRX3	16	54318528	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	26795430	54318528	36036225	346	2672											
SLC12A3	6559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	56899349	56899349	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgatgtggtgcccacatatGagcactatgccaacagcacc	9	13	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:56899349G>C	ENST00000563236.1	+	1	227	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SLC12A3_ENST00000262502.5_Missense_Mutation_p.E68Q|SLC12A3_ENST00000438926.2_Missense_Mutation_p.E68Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E68Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	68			E -> K (in GS). {ECO:0000269|PubMed:17654016}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCACATATGAGCACTATGC	0.592																																					p.E68Q		.											.	SLC12A3-155	0			c.G202C	GRCh37	CM076527	SLC12A3	M		.						145	121	129					16																	56899349		2198	4300	6498	SO:0001583	missense	6559	exon1			ACATATGAGCACT		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.202G>C	16.37:g.56899349G>C	ENSP00000456149:p.Glu68Gln	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	162	64	NM_001126108	0	0	0	0	0	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046937	0.75846	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D;D	0.96885	-4.16;-4.16	5.42	5.42	0.78866	Amino acid permease, N-terminal (1);	0.050868	0.85682	D	0.000000	D	0.97185	0.9080	L	0.47190	1.495	0.58432	D	0.999997	P;P;P	0.50710	0.678;0.938;0.923	P;D;P	0.64237	0.522;0.923;0.874	D	0.97868	1.0284	10	0.72032	D	0.01	.	19.2117	0.93758	0.0:0.0:1.0:0.0	.	68;68;68	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Q	68	ENSP00000402152:E68Q;ENSP00000262502:E68Q	ENSP00000262502:E68Q	E	+	1	0	SLC12A3	55456850	1.000000	0.71417	0.983000	0.44433	0.472000	0.32918	7.920000	0.87521	2.520000	0.84964	0.655000	0.94253	GAG	.		0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			C	56899349	G	C	56899349	3	2	10	1	0	0	0	0	1	0	0	0	14429	1291	45	3	204	3	SLC12A3	16	56899349	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2580821	56899349	33455404	347	2673											
CCDC135	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	57736008	57736008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccacatggacctgacgcGggaggtgtgcccactcactg	14	13	1	1	rs368134516		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:57736008G>T	ENST00000360716.3	+	6	886	c.665G>T	c.(664-666)cGg>cTg	p.R222L	CCDC135_ENST00000336825.8_Intron|CCDC135_ENST00000394337.4_Missense_Mutation_p.R222L|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		222					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						GACCTGACGCGGGAGGTGTGC	0.592																																					p.R222L		.											.	CCDC135-90	0			c.G665T						.						125	101	109					16																	57736008		2198	4300	6498	SO:0001583	missense	84229	exon5			TGACGCGGGAGGT																												ENST00000360716.3:c.665G>T	16.37:g.57736008G>T	ENSP00000353942:p.Arg222Leu	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	263	112	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020397	0.54576	.	.	ENSG00000159625	ENST00000394337;ENST00000360716	T;T	0.78126	-1.15;-1.15	5.1	5.1	0.69264	.	0.275273	0.33346	N	0.005004	T	0.79545	0.4464	M	0.85041	2.73	0.80722	D	1	B	0.33583	0.418	B	0.38562	0.276	T	0.78650	-0.2121	10	0.38643	T	0.18	-26.1592	8.4651	0.32951	0.0819:0.0:0.7628:0.1553	.	222	Q8IY82	CC135_HUMAN	L	222	ENSP00000377869:R222L;ENSP00000353942:R222L	ENSP00000353942:R222L	R	+	2	0	CCDC135	56293509	0.997000	0.39634	0.980000	0.43619	0.860000	0.49131	2.613000	0.46351	2.363000	0.80096	0.453000	0.30009	CGG	.		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			T	57736008	G	T	57736008	3	4	10	1	0	0	0	0	1	0	0	0	2776	1116	39	2	679	2	CCDC135	16	57736008	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	836659	57736008	32618745	348	2674											
DDX28	55794	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	68056823	68056823	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgtcgactcttccagccttGagaggctagcggcgcgcgct	14	14	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:68056823G>C	ENST00000332395.5	-	1	947	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	95						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCCAGCCTTGAGAGGCTAGC	0.697																																					p.Q95E		.											.	DDX28-226	0			c.C283G						.						4	5	5					16																	68056823		1963	3917	5880	SO:0001583	missense	55794	exon1			AGCCTTGAGAGGC	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.283C>G	16.37:g.68056823G>C	ENSP00000332340:p.Gln95Glu	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	26	12	NM_018380	0	0	3	9	6		Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059934	0.36373	.	.	ENSG00000182810	ENST00000332395	T	0.02944	4.1	5.21	5.21	0.72293	.	0.336412	0.31381	N	0.007747	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.43829	-0.9367	10	0.66056	D	0.02	-3.2261	14.4829	0.67594	0.0:0.1884:0.8116:0.0	.	95	Q9NUL7	DDX28_HUMAN	E	95	ENSP00000332340:Q95E	ENSP00000332340:Q95E	Q	-	1	0	DDX28	66614324	0.460000	0.25776	0.885000	0.34714	0.202000	0.24057	3.736000	0.55052	2.713000	0.92767	0.655000	0.94253	CAA	.		0.697	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		C	68056823	G	C	68056823	3	2	10	1	0	0	0	0	1	0	0	0	4364	1299	45	3	1343	3	DDX28	16	68056823	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	10320815	68056823	22297930	349	2675											
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	72829226	72829226	+	Frame_Shift_Del	DEL	G	G	-													gctcttgctgctgcagctctGgctttggttgtccttgcttt							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829226delG	ENST00000268489.5	-	9	8027	c.7355delC	c.(7354-7356)ccafs	p.P2452fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P1538fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2452					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)				CTGCAGCTCTGGCTTTGGTTG	0.562																																					p.P2452fs		.											.	ZFHX3-72	0			c.7355delC						.						114	96	102					16																	72829226		2198	4300	6498	SO:0001589	frameshift_variant	463	exon9			AGCTCTGGCTTTG	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.7355delC	16.37:g.72829226delG	ENSP00000268489:p.Pro2452fs	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	70	14	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		-	72829226	G	-	72829226	7	5	10	1	0	1	0	1	0	0	0	0	17682	1348	47	0	3764	0	ZFHX3	16	72829226	Frame_Shift_Del	DEL	G	TCGA-OR-A5JB-01A-11D-A29I-10	4772403	72829226	17525527	350	2676	19	3									
ZFHX3	463	hgsc.bcm.edu	37	chr16	72829227	72829228	+	Frame_Shift_Del	DEL	GC	GC	-													ctcttgctgctgcagctctgGctttggttgtccttgctttt							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829227_72829228delGC	ENST00000268489.5	-	9	8025_8026	c.7353_7354delGC	c.(7351-7356)aagccafs	p.KP2451fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KP1537fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2451					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)				TGCAGCTCTGGCTTTGGTTGTC	0.569																																					p.2451_2452del		.											.	ZFHX3-72	0			c.7353_7354del						.																																			SO:0001589	frameshift_variant	463	exon9			GCTCTGGCTTTGG	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.7353_7354delGC	16.37:g.72829227_72829228delGC	ENSP00000268489:p.Lys2451fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	70	0	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.569	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		-	72829228	GC	-	72829227	7	5	10	1	0	1	0	1	0	0	0	0	17682	1203	42	0	3765	0	ZFHX3	16	72829227	Frame_Shift_Del	DEL	GC	TCGA-OR-A5JB-01A-11D-A29I-10	1	72829227	17525526	351	2677	19	3									
ZFHX3	463	hgsc.bcm.edu;bcgsc.ca	37	chr16	72829228	72829228	+	Silent	SNP	C	C	T													tcttgctgctgcagctctggCtttggttgtccttgcttttc							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829228C>T	ENST00000268489.5	-	9	8025	c.7353G>A	c.(7351-7353)aaG>aaA	p.K2451K	ZFHX3_ENST00000397992.5_Silent_p.K1537K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2451					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)				GCAGCTCTGGCTTTGGTTGTC	0.567																																					p.K2451K		.											.	ZFHX3-72	0			c.G7353A						.						114	96	102					16																	72829228		2198	4300	6498	SO:0001819	synonymous_variant	463	exon9			CTCTGGCTTTGGT	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.7353G>A	16.37:g.72829228C>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	68	14	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.567	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72829228	C	T	72829228	2	4	10	1	0	0	0	0	0	0	0	1	17682	796	28	3		3	ZFHX3	16	72829228	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1	72829228	17525525	352	2678	19	3									
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	83378568	83378568	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaccgaccgatctttcgGgaaggcccctacatcggcca	10	15	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:83378568G>T	ENST00000566620.1	+	6	1028	c.738G>T	c.(736-738)cgG>cgT	p.R246R	CDH13_ENST00000268613.10_Silent_p.R293R|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.R207R	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	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> W (in a patient with amyotrophic lateral sclerosis). {ECO:0000269|PubMed:21220648}.		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)		CGATCTTTCGGGAAGGCCCCT	0.507																																					p.R293R		.											.	CDH13-67	0			c.G879T						.						105	105	105					16																	83378568		1930	4132	6062	SO:0001819	synonymous_variant	1012	exon7			CTTTCGGGAAGGC	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.738G>T	16.37:g.83378568G>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	116	48	NM_001220488	0	0	0	1	1	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																			.		0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		T	83378568	G	T	83378568	2	4	10	1	0	0	0	0	0	0	0	1	3106	1219	43	3		3	CDH13	16	83378568	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	10549340	83378568	6976185	353	2679											
ADAD2	161931	hgsc.bcm.edu	37	chr16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaaagtgcctgggGgcccgcgcccgcgcccgcga	15	19	0	0	rs8044695|rs554488585	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5	7	7		131,131	-1.1	0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84224967	G	A	84224967	3	1	10	1	0	0	0	0	1	0	0	0	232	1232	43	3	133	3	ADAD2	16	84224967	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	846399	84224967	6129786	354	2680											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599659	88599659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccaggactggacagaaaGgccctggccgaggccaccaa	13	14	0	1	rs71395304	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:88599659G>T	ENST00000319555.3	+	10	1615	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	431					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGACAGAAAGGCCCTGGCCG	0.721													G|||	612	0.122204	0.0091	0.1398	5008	,	,		9175	0.3294		0.0915	False		,,,				2504	0.0808				p.K431N	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.G1293T						.	G	ASN/LYS	61,3871		0,61,1905	4	5	4		1293	-1.2	0.1	16	dbSNP_130	4	544,7434		10,524,3455	yes	missense	ZFPM1	NM_153813.2	94	10,585,5360	TT,TG,GG		6.8188,1.5514,5.0798	probably-damaging	431/1007	88599659	605,11305	1966	3989	5955	SO:0001583	missense	161882	exon10			CAGAAAGGCCCTG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1293G>T	16.37:g.88599659G>T	ENSP00000326630:p.Lys431Asn	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	15	NM_153813	0	0	4	6	2		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	308	0.14102564102564102	9	0.018292682926829267	49	0.13535911602209943	192	0.3356643356643357	58	0.07651715039577836	G	10.12	1.262467	0.23051	0.015514	0.068188	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.39	-1.17	0.09648	.	1.163550	0.06454	U	0.728227	T	0.00012	0.0000	L	0.60455	1.87	0.40357	P	0.02080599999999999	D	0.69078	0.997	P	0.57911	0.829	T	0.41161	-0.9524	9	0.42905	T	0.14	-7.9024	6.4423	0.21856	0.5249:0.0:0.4751:0.0	.	431	Q8IX07	FOG1_HUMAN	N	431	ENSP00000326630:K431N	ENSP00000326630:K431N	K	+	3	2	ZFPM1	87127160	0.522000	0.26266	0.089000	0.20774	0.599000	0.36880	0.335000	0.19806	-0.105000	0.12132	0.289000	0.19496	AAG	G|0.858;T|0.142		0.721	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			T	88599659	G	T	88599659	3	4	10	1	0	0	0	0	1	0	0	0	17705	991	35	3	1331	3	ZFPM1	16	88599659	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	4374692	88599659	1755094	355	2681											
RPL13	6137	hgsc.bcm.edu	37	chr16	89627671	89627671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcgcgccgcatcgcCccgcgccccgcgtcgggtcc	14	21	0	0	rs174035	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPL13_ENST00000452368.3_Silent_p.A47A|RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000567815.1_Silent_p.A47A|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3	4	3		141,141	0.9	1	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_001243131	0	1	275	1030	754	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627671	C	T	89627671	2	4	10	1	0	0	0	0	0	0	0	1	13604	610	22	3		3	RPL13	16	89627671	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1028012	89627671	727082	356	2682											
GAS8	2622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	90099238	90099238	+	Missense_Mutation	SNP	A	A	T													acagaaagagcaccgcatacAggagagtgtgctgcgcaagg							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:90099238A>T	ENST00000268699.4	+	4	523	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Missense_Mutation_p.Q109L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	134	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CACCGCATACAGGAGAGTGTG	0.557																																					p.Q134L		.											.	GAS8-227	0			c.A401T						.						114	88	97					16																	90099238		2198	4300	6498	SO:0001583	missense	2622	exon4			GCATACAGGAGAG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.401A>T	16.37:g.90099238A>T	ENSP00000268699:p.Gln134Leu	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	383	93	NM_001481	0	0	11	11	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438930	0.25900	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.32988	1.43;1.44	5.82	5.82	0.92795	.	0.189826	0.45867	D	0.000322	T	0.31979	0.0814	L	0.58101	1.795	0.54753	D	0.99998	B;B;B;B	0.23185	0.002;0.081;0.001;0.007	B;B;B;B	0.17722	0.002;0.019;0.004;0.002	T	0.05767	-1.0865	9	.	.	.	-48.906	15.8299	0.78743	1.0:0.0:0.0:0.0	.	105;51;134;134	B7Z1X3;Q68D98;B7Z9B0;O95995	.;.;.;GAS8_HUMAN	L	109;134;105;134	ENSP00000440977:Q109L;ENSP00000268699:Q134L	.	Q	+	2	0	GAS8	88626739	1.000000	0.71417	0.993000	0.49108	0.050000	0.14768	8.239000	0.89811	2.225000	0.72522	0.528000	0.53228	CAG	.		0.557	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90099238	A	T	90099238	3	4	10	1	0	0	0	0	1	0	0	0	6276	188	7	5	415	5	GAS8	16	90099238	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	471567	90099238	255515	357	2683	20	2									
GAS8	2622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	90099240	90099240	+	Nonsense_Mutation	SNP	G	G	T													agaaagagcaccgcatacagGagagtgtgctgcgcaaggac							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:90099240G>T	ENST00000268699.4	+	4	525	c.403G>T	c.(403-405)Gag>Tag	p.E135*	GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Nonsense_Mutation_p.E110*	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	135	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCGCATACAGGAGAGTGTGCT	0.562																																					p.E135X		.											.	GAS8-227	0			c.G403T						.						115	88	97					16																	90099240		2198	4300	6498	SO:0001587	stop_gained	2622	exon4			ATACAGGAGAGTG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.403G>T	16.37:g.90099240G>T	ENSP00000268699:p.Glu135*	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	384	94	NM_001481	0	0	11	11	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Nonsense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458506	0.63401	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.82	5.82	0.92795	.	0.047329	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-40.7228	19.6802	0.95960	0.0:0.0:1.0:0.0	.	.	.	.	X	110;135;106;135	.	.	E	+	1	0	GAS8	88626741	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	9.109000	0.94291	2.758000	0.94735	0.650000	0.86243	GAG	.		0.562	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90099240	G	T	90099240	4	4	10	1	0	0	0	0	0	1	0	0	6276	1175	41	3	417	3	GAS8	16	90099240	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2	90099240	255513	358	2684	20	2									
KIAA0664	23277	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	2601707	2601707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcgccacgtaggccgCcacgtcccccccgaagtcct	13	18	0	0	rs369298872		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:2601707C>A	ENST00000570628.2	-	10	1435	c.1330G>T	c.(1330-1332)Gcg>Tcg	p.A444S	CLUH_ENST00000538975.1_Missense_Mutation_p.A444S|CLUH_ENST00000435359.1_Missense_Mutation_p.A444S			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	444					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											ACGTAGGCCGCCACGTCCCCC	0.612																																					p.A444S		.											.	.	0			c.G1330T						.						45	52	50					17																	2601707		2124	4208	6332	SO:0001583	missense	23277	exon10			AGGCCGCCACGTC	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.1330G>T	17.37:g.2601707C>A	ENSP00000458986:p.Ala444Ser	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	275	137	NM_015229	0	0	0	4	4	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484184	0.84854	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.84944	-1.92;-1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.95965	0.8965	10	0.87932	D	0	.	18.1762	0.89762	0.0:1.0:0.0:0.0	.	444;444	O75153;C9J6D7	K0664_HUMAN;.	S	444	ENSP00000388872:A444S;ENSP00000439628:A444S	ENSP00000320468:A444S	A	-	1	0	KIAA0664	2548457	1.000000	0.71417	0.997000	0.53966	0.237000	0.25408	7.487000	0.81328	2.532000	0.85374	0.655000	0.94253	GCG	.		0.612	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		A	2601707	C	A	2601707	3	1	10	1	0	0	0	0	1	0	0	0	8216	739	26	3	2667	3	KIAA0664	17	2601707	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		2601707	78593503	359	2685											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	12	5	1	0	rs587780073		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR	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.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(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)	CATGTAGTTGTAGTGGATGGT	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.Y234C	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	c.A701G	GRCh37	CM035576	TP53	M		.						119	95	103					17																	7577580		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;	TAGTTGTAGTGGA	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	Somatic	204	2		WXS	Illumina GAIIx	Phase_I	203	94	NM_000546	0	0	0	6	6	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	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	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	10	1	0	0	0	0	1	0	0	0	16429	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	4975873	7577580	73617630	360	2686											
RCVRN	5957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9801437	9801437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttcatcttttccttcActttttgaggctcaaactgg	6	11	5	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:9801437A>T	ENST00000226193.5	-	3	1018	c.578T>A	c.(577-579)gTg>gAg	p.V193E	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	193					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTTTTCCTTCACTTTTTGAGG	0.478																																					p.V193E		.											.	RCVRN-90	0			c.T578A						.						329	287	301					17																	9801437		2203	4300	6503	SO:0001583	missense	5957	exon3			TCCTTCACTTTTT	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.578T>A	17.37:g.9801437A>T	ENSP00000226193:p.Val193Glu	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	115	64	NM_002903	0	0	0	0	0	Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354090	0.41700	.	.	ENSG00000109047	ENST00000226193	T	0.66460	-0.21	5.21	4.12	0.48240	.	0.167353	0.45867	D	0.000330	T	0.60143	0.2246	M	0.74647	2.275	0.46396	D	0.999025	P	0.34615	0.459	B	0.29942	0.109	T	0.59413	-0.7459	10	0.27785	T	0.31	.	8.7254	0.34467	0.9094:0.0:0.0906:0.0	.	193	P35243	RECO_HUMAN	E	193	ENSP00000226193:V193E	ENSP00000226193:V193E	V	-	2	0	RCVRN	9742162	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.310000	0.65780	2.086000	0.62901	0.533000	0.62120	GTG	.		0.478	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		T	9801437	A	T	9801437	3	4	10	1	0	0	0	0	1	0	0	0	13231	159	6	5	28	5	RCVRN	17	9801437	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	2223857	9801437	71393773	361	2687											
MYH2	4620	mdanderson.org	37	chr17	10432658	10432658	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctttcttacttactttttGagcttttcatcaagttgctg	5	8	4	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:10432658G>C	ENST00000245503.5	-	25	3642	c.3258C>G	c.(3256-3258)ctC>ctG	p.L1086L	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L1086L|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1086					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						CTTACTTTTTGAGCTTTTCAT	0.363																																					p.L1086L		.											.	MYH2-194	0			c.C3258G						.						147	136	140					17																	10432658		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon25			CTTTTTGAGCTTT		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.3258C>G	17.37:g.10432658G>C		Somatic	30	1		WXS	Illumina GAIIx	Phase_I	10	5	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																			.		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		C	10432658	G	C	10432658	2	2	10	1	0	0	0	0	0	0	0	1	10073	1277	45	3		3	MYH2	17	10432658	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	631221	10432658	70762552	362	2688											
FAM18B	51030	bcgsc.ca	37	chr17	18702220	18702220	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgtgggtgatatttgcTtttagtgcactcttctcctt	9	8	2	1	rs8080471	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:18702220T>C	ENST00000307767.8	+	5	725	c.426T>C	c.(424-426)gcT>gcC	p.A142A	TVP23B_ENST00000476139.1_Silent_p.A78A|TVP23B_ENST00000574226.1_Silent_p.A142A|TVP23B_ENST00000581733.1_Silent_p.A78A	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	142						integral component of membrane (GO:0016021)											TGATATTTGCTTTTAGTGCAC	0.393													C|||	3393	0.677516	0.6165	0.7421	5008	,	,		16476	0.8284		0.7028	False		,,,				2504	0.5327				p.A142A		.											.	.	0			c.T426C						.	C		2771,1635	481.5+/-359.1	896,979,328	172	169	170		426	1	1	17	dbSNP_116	170	6002,2598	396.0+/-345.2	2141,1720,439	no	coding-synonymous	FAM18B1	NM_016078.4		3037,2699,767	CC,CT,TT		30.2093,37.1085,32.5465		142/206	18702220	8773,4233	2203	4300	6503	SO:0001819	synonymous_variant	51030	exon5			ATTTGCTTTTAGT	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.426T>C	17.37:g.18702220T>C		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	117	6	NM_016078	0	0	7	7	0	A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	CCDS42274.1																																																																																			T|0.313;C|0.687		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		C	18702220	T	C	18702220	2	2	10	1	0	0	0	0	0	0	0	1	5538	1596	56	4		4	FAM18B	17	18702220	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	8269562	18702220	62492990	363	2689											
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	21319469	21319469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccatcaccatcttgcAtgagattgacgaggccagcc	10	14	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:21319469A>T	ENST00000583088.1	+	3	1710	c.815A>T	c.(814-816)cAt>cTt	p.H272L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.H272L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	272					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACCATCTTGCATGAGATTGAC	0.607										Prostate(3;0.18)																											p.H272L		.											.	.	0			c.A815T						.																																			SO:0001583	missense	100134444	exon3			TCTTGCATGAGAT	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.815A>T	17.37:g.21319469A>T	ENSP00000463778:p.His272Leu	Somatic	383	0		WXS	Illumina GAIIx	Phase_I	390	89	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070843	0.76301	.	.	ENSG00000184185	ENST00000331718	D	0.99660	-6.32	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96761	0.9561	10	0.87932	D	0	.	15.4739	0.75461	1.0:0.0:0.0:0.0	.	272	Q14500	IRK12_HUMAN	L	272	ENSP00000328150:H272L	ENSP00000328150:H272L	H	+	2	0	KCNJ12	21260062	1.000000	0.71417	0.921000	0.36526	0.784000	0.44337	9.179000	0.94861	2.065000	0.61736	0.533000	0.62120	CAT	.		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319469	A	T	21319469	3	4	10	1	0	0	0	0	1	0	0	0	8073	217	8	5	817	5	KCNJ12	17	21319469	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	2617249	21319469	59875741	364	2690											
TAOK1	57551	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	27807461	27807461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactttggctctgcttccatGgcatcacctgccaattcctt	7	14	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:27807461G>T	ENST00000261716.3	+	7	1044	c.525G>T	c.(523-525)atG>atT	p.M175I	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGCTTCCATGGCATCACCTG	0.413																																					p.M175I		.											.	TAOK1-521	0			c.G525T						.						105	91	96					17																	27807461		2203	4300	6503	SO:0001583	missense	57551	exon7			TTCCATGGCATCA	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.525G>T	17.37:g.27807461G>T	ENSP00000261716:p.Met175Ile	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	66	37	NM_025142	0	0	0	1	1	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113428	0.08831	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.64803	-0.12;-0.12	5.21	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.30603	0.0770	N	0.10782	0.045	0.39020	D	0.959728	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.38373	-0.9664	10	0.02654	T	1	.	2.9888	0.05977	0.2378:0.2699:0.4923:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	I	175	ENSP00000261716:M175I;ENSP00000438819:M175I	ENSP00000261716:M175I	M	+	3	0	TAOK1	24831587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.566000	0.36396	2.599000	0.87857	0.585000	0.79938	ATG	.		0.413	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		T	27807461	G	T	27807461	3	4	10	1	0	0	0	0	1	0	0	0	15594	1348	47	3	547	3	TAOK1	17	27807461	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6487992	27807461	53387749	365	2691											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29560226	29560226	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaatgtggttccttgttctCagtgggtaagtgattagagt	12	6	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:29560226C>T	ENST00000358273.4	+	27	4086	c.3703C>T	c.(3703-3705)Cag>Tag	p.Q1235*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1235*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1235	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTGTTCTCAGTGGGTAAG	0.433			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.Q1235X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	c.C3703T	GRCh37	CM041403	NF1	M		.						92	83	86					17																	29560226		2203	4300	6503	SO:0001587	stop_gained	4763	exon27	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	TGTTCTCAGTGGG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3703C>T	17.37:g.29560226C>T	ENSP00000351015:p.Gln1235*	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	100	66	NM_000267	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	47	13.345434	0.99736	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.52	5.52	0.82312	.	0.062221	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.4415	0.94823	0.0:1.0:0.0:0.0	.	.	.	.	X	1235;1235;901	.	ENSP00000348498:Q1235X	Q	+	1	0	NF1	26584352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.596000	0.87737	0.555000	0.69702	CAG	.		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29560226	C	T	29560226	4	4	10	1	0	0	0	0	0	1	0	0	10395	827	29	3	3870	3	NF1	17	29560226	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1752765	29560226	51634984	366	2692											
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240804	39240805	+	Missense_Mutation	DNP	CG	CG	AT													gctgccgccccagctgctgcCgcccctgctgctgcctgcgt							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:39240804_39240805CG>AT	ENST00000391417.4	+	1	346_347	c.346_347CG>AT	c.(346-348)CGc>ATc	p.R116I		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgccgcccctgctgc	0.673																																					p.R116I		.											.	.	0			c.G347T						.																																			SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	Exception_encountered	17.37:g.39240804_39240805delinsAT	ENSP00000375236:p.Arg116Ile	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	162	0	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	DNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.		0.673	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			AT	39240805	CG	AT	39240804	3	1	10	1	0	0	0	0	1	0	0	0	8583	652	23	2	348	2	KRTAP4-7	17	39240804	Missense_Mutation	DNP	CG	TCGA-OR-A5JB-01A-11D-A29I-10	9680578	39240804	41954406	367	2693											
PSMC5	5705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	61905533	61905533	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggaaggcaggcagcggactCcgccaatattatctgtccaa	12	11	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:61905533C>A	ENST00000310144.6	+	2	368	c.60C>A	c.(58-60)ctC>ctA	p.L20L	FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000580864.1_Silent_p.L12L|PSMC5_ENST00000581882.1_Silent_p.L12L|FTSJ3_ENST00000580295.1_Intron|PSMC5_ENST00000375812.4_Silent_p.L12L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAGCGGACTCCGCCAATATT	0.537																																					p.L20L		.											.	PSMC5-178	0			c.C60A						.						65	65	65					17																	61905533		2203	4300	6503	SO:0001819	synonymous_variant	5705	exon2			CGGACTCCGCCAA	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.60C>A	17.37:g.61905533C>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	125	97	NM_002805	0	0	5	136	131	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			.		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		A	61905533	C	A	61905533	2	1	10	1	0	0	0	0	0	0	0	1	12732	842	30	3		3	PSMC5	17	61905533	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	22664729	61905533	19289677	368	2694											
SPHK1	8877	hgsc.bcm.edu	37	chr17	74381720	74381720	+	5'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagcgggagccgcgggtcGaggttatggatccaggtttg	19	8	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:74381720G>A	ENST00000545180.1	+	0	804				SPHK1_ENST00000392496.3_5'UTR|SPHK1_ENST00000323374.4_Missense_Mutation_p.E85K|SPHK1_ENST00000592299.1_5'UTR|SPHK1_ENST00000590959.1_5'UTR			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1						'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GCCGCGGGTCGAGGTTATGGA	0.677																																					p.E85K	GBM(90;966 1307 27369 33775 44498)	.											.	SPHK1-1107	0			c.G253A						.						7	12	11					17																	74381720		1939	3823	5762	SO:0001623	5_prime_UTR_variant	8877	exon2			CGGGTCGAGGTTA	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.-6G>A	17.37:g.74381720G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_182965	0	0	2	2	0	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	G	4.232	0.042006	0.08196	.	.	ENSG00000176170	ENST00000323374	T	0.21734	1.99	4.73	2.51	0.30379	.	1.810430	0.03513	N	0.219924	T	0.10380	0.0254	.	.	.	0.21020	N	0.999804	P	0.35700	0.516	B	0.23018	0.043	T	0.19484	-1.0304	9	0.06757	T	0.87	-4.8496	13.5747	0.61866	0.0:0.5761:0.4239:0.0	.	85	Q9NYA1-2	.	K	85	ENSP00000313681:E85K	ENSP00000313681:E85K	E	+	1	0	SPHK1	71893315	0.059000	0.20769	0.039000	0.18376	0.089000	0.18198	0.209000	0.17435	0.292000	0.22492	0.205000	0.17691	GAG	.		0.677	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		A	74381720	G	A	74381720	1	1	10	0	1	0	0	0	0	0	0	0	15093	1059	37	1		1	SPHK1	17	74381720	5'UTR	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	12476187	74381720	6813490	369	2695											
P4HB	5034	hgsc.bcm.edu	37	chr17	79818287	79818287	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggacgtggtcctcctcctCgggggcgtcggcgcgcacca	15	16	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:79818287C>A	ENST00000331483.4	-	1	283	c.61G>T	c.(61-63)Gag>Tag	p.E21*	P4HB_ENST00000439918.2_Nonsense_Mutation_p.E21*|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Nonsense_Mutation_p.E21*	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	21	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.			E -> D (in Ref. 13; AA sequence). {ECO:0000305}.	cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCCTCCTCGGGGGCGTCG	0.721																																					p.E21X	Colon(49;444 983 1296 7887 42561)	.											.	P4HB-46	0			c.G61T						.						6	6	6					17																	79818287		1875	3637	5512	SO:0001587	stop_gained	5034	exon1			CCTCCTCGGGGGC	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.61G>T	17.37:g.79818287C>A	ENSP00000327801:p.Glu21*	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	48	22	NM_000918	0	0	83	97	14	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Nonsense_Mutation	SNP	ENST00000331483.4	37	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815141	0.90790	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	.	.	.	4.9	2.87	0.33458	.	1.149430	0.06606	N	0.754768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	11.1889	0.48673	0.0:0.8446:0.0:0.1554	.	.	.	.	X	21	.	ENSP00000327801:E21X	E	-	1	0	P4HB	77411576	0.246000	0.23909	0.080000	0.20451	0.137000	0.21094	1.636000	0.37144	1.064000	0.40671	-0.291000	0.09656	GAG	.		0.721	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		A	79818287	C	A	79818287	4	1	10	1	0	0	0	0	0	1	0	0	11398	893	31	2	1509	2	P4HB	17	79818287	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5436567	79818287	1376923	370	2696											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	31158619	31158619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaagaggaagaagaaGgaccgcacctgggccgaggc	15	9	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:31158619G>T	ENST00000269197.5	+	1	24	c.24G>T	c.(22-24)aaG>aaT	p.K8N	RP11-258B16.1_ENST00000591558.1_lincRNA	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	8					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						GGAAGAAGAAGGACCGCACCT	0.687																																					p.K8N		.											.	ASXL3-49	0			c.G24T						.						24	33	30					18																	31158619		1931	4139	6070	SO:0001583	missense	80816	exon1			GAAGAAGGACCGC	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.24G>T	18.37:g.31158619G>T	ENSP00000269197:p.Lys8Asn	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	105	61	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	g	10.10	1.256590	0.22965	.	.	ENSG00000141431	ENST00000269197	T	0.34667	1.35	2.19	2.19	0.27852	.	.	.	.	.	T	0.49389	0.1554	L	0.49778	1.585	0.30516	N	0.768947	D	0.64830	0.994	P	0.62885	0.908	T	0.52487	-0.8569	9	0.72032	D	0.01	.	11.9258	0.52819	0.0:0.0:1.0:0.0	.	8	Q9C0F0	ASXL3_HUMAN	N	8	ENSP00000269197:K8N	ENSP00000269197:K8N	K	+	3	2	ASXL3	29412617	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.347000	0.59373	1.042000	0.40150	0.399000	0.26434	AAG	.		0.687	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31158619	G	T	31158619	3	4	10	1	0	0	0	0	1	0	0	0	1069	991	35	3	26	3	ASXL3	18	31158619	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		31158619	46918629	371	2697											
SETBP1	26040	mdanderson.org	37	chr18	42530098	42530098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttgcaaaggcccagGgtaagaaaggcagtgcaggg	14	9	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42530098G>T	ENST00000282030.5	+	4	1089	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	265						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGGCCCAGGGTAAGAAAGG	0.537									Schinzel-Giedion syndrome																												p.G265C		.											.	SETBP1-155	0			c.G793T						.						83	82	82					18																	42530098		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	GCCCAGGGTAAGA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.793G>T	18.37:g.42530098G>T	ENSP00000282030:p.Gly265Cys	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	14	9	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065549	0.36470	.	.	ENSG00000152217	ENST00000282030	T	0.36340	1.26	5.61	3.75	0.43078	.	0.328672	0.31685	N	0.007224	T	0.22126	0.0533	N	0.19112	0.55	0.25871	N	0.983706	B	0.10296	0.003	B	0.09377	0.004	T	0.15321	-1.0441	10	0.52906	T	0.07	.	7.7403	0.28837	0.0739:0.0:0.5161:0.4099	.	265	Q9Y6X0	SETBP_HUMAN	C	265	ENSP00000282030:G265C	ENSP00000282030:G265C	G	+	1	0	SETBP1	40784096	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.465000	0.22004	0.775000	0.33450	0.655000	0.94253	GGT	.		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42530098	G	T	42530098	3	4	10	1	0	0	0	0	1	0	0	0	14174	1232	43	3	996	3	SETBP1	18	42530098	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	11371479	42530098	35547150	372	2698											
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	42531994	42531994	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtactcttttgatttcTgctccctggacaacccggag	11	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42531994T>A	ENST00000282030.5	+	4	2985	c.2689T>A	c.(2689-2691)Tgc>Agc	p.C897S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	897						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTTTGATTTCTGCTCCCTGGA	0.557									Schinzel-Giedion syndrome																												p.C897S		.											.	SETBP1-155	0			c.T2689A						.						47	34	38					18																	42531994		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	GATTTCTGCTCCC	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2689T>A	18.37:g.42531994T>A	ENSP00000282030:p.Cys897Ser	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	47	26	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818163	0.50633	.	.	ENSG00000152217	ENST00000282030	D	0.89552	-2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	N	0.12182	0.205	0.42266	D	0.992032	D	0.76494	0.999	D	0.71414	0.973	D	0.91683	0.5360	10	0.72032	D	0.01	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	897	Q9Y6X0	SETBP_HUMAN	S	897	ENSP00000282030:C897S	ENSP00000282030:C897S	C	+	1	0	SETBP1	40785992	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.160000	0.71862	2.371000	0.80710	0.533000	0.62120	TGC	.		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42531994	T	A	42531994	3	1	10	1	0	0	0	0	1	0	0	0	14174	1580	55	5	2892	5	SETBP1	18	42531994	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	1896	42531994	35545254	373	2699											
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	42532100	42532100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactttctggcccacgaaaGcctcaagaagccaaagcaca	7	14	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42532100G>T	ENST00000282030.5	+	4	3091	c.2795G>T	c.(2794-2796)aGc>aTc	p.S932I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	932						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCCCACGAAAGCCTCAAGAAG	0.542									Schinzel-Giedion syndrome																												p.S932I		.											.	SETBP1-155	0			c.G2795T						.						43	44	44					18																	42532100		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	ACGAAAGCCTCAA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2795G>T	18.37:g.42532100G>T	ENSP00000282030:p.Ser932Ile	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	18	10	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494313	0.44352	.	.	ENSG00000152217	ENST00000282030	D	0.90004	-2.6	6.17	6.17	0.99709	.	0.041854	0.85682	D	0.000000	D	0.82879	0.5133	N	0.08118	0	0.36558	D	0.872269	P	0.49090	0.919	P	0.46275	0.51	D	0.87592	0.2491	10	0.62326	D	0.03	.	17.0531	0.86525	0.0:0.1266:0.8734:0.0	.	932	Q9Y6X0	SETBP_HUMAN	I	932	ENSP00000282030:S932I	ENSP00000282030:S932I	S	+	2	0	SETBP1	40786098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.052000	0.64263	2.941000	0.99782	0.655000	0.94253	AGC	.		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42532100	G	T	42532100	3	4	10	1	0	0	0	0	1	0	0	0	14174	971	34	3	2998	3	SETBP1	18	42532100	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	106	42532100	35545148	374	2700											
SERPINB11	89778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	61390440	61390440	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccaagggcctatatttatCaaaagccatccacaagtcat	5	11	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:61390440C>G	ENST00000382749.5	+	0	1231				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTATATTTATCAAAAGCCATC	0.483																																					.	Ovarian(27;496 784 5942 8975 23930)	.											.	SERPINB11-67	0			.						.						46	46	46					18																	61390440		2187	4299	6486			89778	.			ATTTATCAAAAGC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390440C>G		Somatic	174	1		WXS	Illumina GAIIx	Phase_I	125	70	.	0	0	0	0	0	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037009	0.93630	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	.	.	.	5.05	5.05	0.67936	.	0.139968	0.33180	N	0.005187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7553	0.88446	0.0:1.0:0.0:0.0	.	.	.	.	X	329;127;154	.	ENSP00000421854:S329X	S	+	2	0	SERPINB11	59541420	1.000000	0.71417	0.791000	0.31998	0.168000	0.22595	5.762000	0.68809	2.488000	0.83962	0.655000	0.94253	TCA	.		0.483	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		G	61390440	C	G	61390440	1	3	10	0	1	0	0	0	0	0	0	0	14143	838	29	3		3	SERPINB11	18	61390440	RNA	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	18858340	61390440	16686808	375	2701											
ODF3L2	284451	hgsc.bcm.edu	37	chr19	464080	464080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggcggtaggtgtttgCgtccgggctgtcgtactggc	18	10	0	0	rs76592524	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6	7	7		634	2.7	1	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		T	464080	C	T	464080	3	4	10	1	0	0	0	0	1	0	0	0	10871	768	27	1	239	1	ODF3L2	19	464080	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		464080	58664903	376	2702											
GRIN3B	116444	broad.mit.edu	37	chr19	1008889	1008889	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctcaacacggagccaccaGaggggtcgaaggaggagacg	15	12	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1008889G>T	ENST00000234389.3	+	8	2684	c.2665G>T	c.(2665-2667)Gag>Tag	p.E889*		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	889					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAGCCACCAGAGGGGTCGAA	0.711																																					p.E889X		.											.	GRIN3B-90	0			c.G2665T						.																																			SO:0001587	stop_gained	116444	exon8			CCACCAGAGGGGT		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2665G>T	19.37:g.1008889G>T	ENSP00000234389:p.Glu889*	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	118	4	NM_138690	0	0	2	2	0	Q5EAK7|Q7RTW9	Nonsense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380020	0.95945	.	.	ENSG00000116032	ENST00000234389	.	.	.	3.46	1.05	0.20165	.	0.805472	0.10737	U	0.639927	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.3048	0.21133	0.1058:0.3647:0.5295:0.0	.	.	.	.	X	889	.	ENSP00000234389:E889X	E	+	1	0	GRIN3B	959889	0.011000	0.17503	0.000000	0.03702	0.012000	0.07955	0.153000	0.16323	0.069000	0.16605	-0.482000	0.04802	GAG	.		0.711	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			T	1008889	G	T	1008889	4	4	10	1	0	0	0	0	0	1	0	0	6811	943	33	3	2695	3	GRIN3B	19	1008889	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	544809	1008889	58120094	377	2703											
STK11	6794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1220640	1220640	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggctccccggctttcCagccgcccgagattgccaac	11	18	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1220640C>T	ENST00000326873.7	+	5	1831	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Q220*(4)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTTTCCAGCCGCCCGA	0.711		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.Q220X		.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	.	STK11-5227	26	Whole gene deletion(20)|Substitution - Nonsense(4)|Unknown(2)	cervix(14)|lung(8)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	c.C658T	GRCh37	CM991157	STK11	M		.						13	18	17					19																	1220640		1947	4128	6075	SO:0001587	stop_gained	6794	exon5	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	GCTTTCCAGCCGC	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.658C>T	19.37:g.1220640C>T	ENSP00000324856:p.Gln220*	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	73	48	NM_000455	0	0	8	14	6	B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	48	14.216541	0.99785	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-51.9112	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000324856:Q220X	Q	+	1	0	STK11	1171640	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.712000	0.84684	2.644000	0.89710	0.561000	0.74099	CAG	.		0.711	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1220640	C	T	1220640	4	4	10	1	0	0	0	0	0	1	0	0	15334	595	21	3	676	3	STK11	19	1220640	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	211751	1220640	57908343	378	2704											
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912163	1912163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcccggagcctgagccGgcgccgtggcaggccctccc	17	17	0	1	rs199915192	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1912163G>A	ENST00000602400.1	+	2	297	c.69G>A	c.(67-69)ccG>ccA	p.P23P	SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000329478.2_Silent_p.P39P|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	23					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCTGAGCCGGCGCCGTGGC	0.716													G|||	7	0.00139776	0	0.0029	5008	,	,		11352	0		0.005	False		,,,				2504	0				p.P39P		.											.	ADAT3-154	0			c.G117A						.	G	,	2,4298		0,2,2148	7	9	8		,69	-8.4	0	19		8	46,8388		0,46,4171	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	0,48,6319	AA,AG,GG		0.5454,0.0465,0.3769	,	,23/352	1912163	48,12686	2150	4217	6367	SO:0001819	synonymous_variant	113179	exon2			TGAGCCGGCGCCG	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.69G>A	19.37:g.1912163G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	27	22	NM_138422	0	0	0	0	0		Silent	SNP	ENST00000602400.1	37																																																																																				G|0.996;A|0.004		0.716	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		A	1912163	G	A	1912163	2	1	10	1	0	0	0	0	0	0	0	1	286	1103	39	1		1	ADAT3	19	1912163	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	691523	1912163	57216820	379	2705											
S1PR4	8698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3179663	3179663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacctgcggggcatggactgGatcctggccctggccgtcct	14	14	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:3179663G>T	ENST00000246115.3	+	1	928	c.873G>T	c.(871-873)tgG>tgT	p.W291C		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	291					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCATGGACTGGATCCTGGCCC	0.657																																					p.W291C	GBM(82;318 1638 33279 49708)	.											.	S1PR4-591	0			c.G873T						.						84	82	83					19																	3179663		2203	4300	6503	SO:0001583	missense	8698	exon1			GGACTGGATCCTG	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.873G>T	19.37:g.3179663G>T	ENSP00000246115:p.Trp291Cys	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	121	68	NM_003775	0	0	3	3	0	D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369733	0.61624	.	.	ENSG00000125910	ENST00000246115	T	0.36878	1.23	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.218873	0.41396	D	0.000888	T	0.61489	0.2351	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.69101	-0.5234	10	0.87932	D	0	.	15.1914	0.73047	0.0:0.0:1.0:0.0	.	291	O95977	S1PR4_HUMAN	C	291	ENSP00000246115:W291C	ENSP00000246115:W291C	W	+	3	0	S1PR4	3130663	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.552000	0.53705	1.923000	0.55706	0.462000	0.41574	TGG	.		0.657	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		T	3179663	G	T	3179663	3	4	10	1	0	0	0	0	1	0	0	0	13841	1183	41	3	875	3	S1PR4	19	3179663	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1267500	3179663	55949320	380	2706											
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9059570	9059570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtctcttcagagatgctggtCtccatcaacccaggagtcag	10	12	5	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9059570C>G	ENST00000397910.4	-	3	28079	c.27876G>C	c.(27874-27876)gaG>gaC	p.E9292D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9294	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						AGATGCTGGTCTCCATCAACC	0.498																																					p.E9292D		.											.	MUC16-566	0			c.G27876C						.						152	148	149					19																	9059570		2007	4190	6197	SO:0001583	missense	94025	exon3			GCTGGTCTCCATC	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.27876G>C	19.37:g.9059570C>G	ENSP00000381008:p.Glu9292Asp	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	78	39	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.317	0.426615	0.11987	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.65	-3.84	0.04256	.	.	.	.	.	T	0.01835	0.0058	N	0.17082	0.46	.	.	.	B	0.19817	0.039	B	0.20184	0.028	T	0.46303	-0.9201	8	0.87932	D	0	.	3.7203	0.08453	0.0:0.2841:0.3018:0.414	.	9292	B5ME49	.	D	9292	ENSP00000381008:E9292D	ENSP00000381008:E9292D	E	-	3	2	MUC16	8920570	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.397000	0.02511	-0.713000	0.04981	0.461000	0.40582	GAG	.		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9059570	C	G	9059570	3	3	10	1	0	0	0	0	1	0	0	0	10011	912	32	3	15975	3	MUC16	19	9059570	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5879907	9059570	50069413	381	2707											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	9060440	9060440	+	Frame_Shift_Del	DEL	G	G	-													gtgctggtctcccttggtgtGggggtcagggtggatgttga							TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9060440delG	ENST00000397910.4	-	3	27209	c.27006delC	c.(27004-27006)cccfs	p.P9002fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9004	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						CCCTTGGTGTGGGGGTCAGGG	0.502																																					p.P9002fs		.											.	MUC16-566	0			c.27006delC						.						140	134	136					19																	9060440		2092	4217	6309	SO:0001589	frameshift_variant	94025	exon3			TGGTGTGGGGGTC	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.27006delC	19.37:g.9060440delG	ENSP00000381008:p.Pro9002fs	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	135	73	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9060440	G	-	9060440	7	5	10	1	0	1	0	1	0	0	0	0	10011	1335	47	0	16845	0	MUC16	19	9060440	Frame_Shift_Del	DEL	G	TCGA-OR-A5JB-01A-11D-A29I-10	870	9060440	50068543	382	2708											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9071377	9071377	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaggagaggaggggatgcTctgtggtgatgtggaggaaa	20	2	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9071377T>A	ENST00000397910.4	-	3	16272	c.16069A>T	c.(16069-16071)Agc>Tgc	p.S5357C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5359	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						GAGGGGATGCTCTGTGGTGAT	0.527																																					p.S5357C		.											.	MUC16-566	0			c.A16069T						.						148	147	147					19																	9071377		2066	4209	6275	SO:0001583	missense	94025	exon3			GGATGCTCTGTGG	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.16069A>T	19.37:g.9071377T>A	ENSP00000381008:p.Ser5357Cys	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	158	101	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.785	-0.252686	0.05829	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	2.12	-1.63	0.08345	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	.	.	.	D	0.55605	0.972	P	0.50192	0.634	T	0.20405	-1.0276	8	0.87932	D	0	.	3.0333	0.06113	0.0:0.3597:0.2508:0.3895	.	5357	B5ME49	.	C	5357	ENSP00000381008:S5357C	ENSP00000381008:S5357C	S	-	1	0	MUC16	8932377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	-0.480000	0.06803	-0.844000	0.03045	AGC	.		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9071377	T	A	9071377	3	1	10	1	0	0	0	0	1	0	0	0	10011	1551	54	5	27782	5	MUC16	19	9071377	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	10937	9071377	50057606	383	2709											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9080534	9080534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgacatctttatggtgGtcactagcgttccatcagtt	10	9	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9080534G>T	ENST00000397910.4	-	2	9700	c.9497C>A	c.(9496-9498)aCc>aAc	p.T3166N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3167	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						CTTTATGGTGGTCACTAGCGT	0.463																																					p.T3166N		.											.	MUC16-566	0			c.C9497A						.						145	137	140					19																	9080534		1945	4150	6095	SO:0001583	missense	94025	exon2			ATGGTGGTCACTA	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.9497C>A	19.37:g.9080534G>T	ENSP00000381008:p.Thr3166Asn	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	124	74	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.266	-0.368211	0.05069	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.12	1.12	0.20585	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.28324	0.207	B	0.20955	0.032	T	0.35968	-0.9767	8	0.87932	D	0	.	5.6001	0.17349	0.0:0.0:1.0:0.0	.	3166	B5ME49	.	N	3166	ENSP00000381008:T3166N	ENSP00000381008:T3166N	T	-	2	0	MUC16	8941534	0.181000	0.23161	0.009000	0.14445	0.019000	0.09904	1.402000	0.34600	0.898000	0.36418	0.313000	0.20887	ACC	.		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9080534	G	T	9080534	3	4	10	1	0	0	0	0	1	0	0	0	10011	1261	44	3	34358	3	MUC16	19	9080534	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9157	9080534	50048449	384	2710											
EMR3	84658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	14749012	14749012	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgggaacatgatccacttCatgagtctattgatgcttga	9	8	2	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:14749012C>A	ENST00000253673.5	-	11	1489	c.1389G>T	c.(1387-1389)atG>atT	p.M463I	EMR3_ENST00000443157.2_Missense_Mutation_p.M337I|EMR3_ENST00000344373.4_Missense_Mutation_p.M411I|EMR3_ENST00000599900.1_Missense_Mutation_p.M248I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	463					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						TGATCCACTTCATGAGTCTAT	0.557																																					p.M463I		.											.	EMR3-528	0			c.G1389T						.						190	145	161					19																	14749012		2203	4300	6503	SO:0001583	missense	84658	exon11			CCACTTCATGAGT	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.1389G>T	19.37:g.14749012C>A	ENSP00000253673:p.Met463Ile	Somatic	274	0		WXS	Illumina GAIIx	Phase_I	220	15	NM_032571	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564261	0.27915	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.34859	1.34;1.34;1.34	4.34	0.847	0.18961	GPCR, family 2-like (1);	.	.	.	.	T	0.37433	0.1003	L	0.41415	1.275	0.09310	N	1	P;P;P	0.48350	0.909;0.894;0.535	P;P;B	0.55222	0.771;0.688;0.425	T	0.18681	-1.0329	9	0.59425	D	0.04	.	3.2536	0.06823	0.1601:0.3828:0.3593:0.0978	.	337;411;463	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	I	337;463;411	ENSP00000396208:M337I;ENSP00000253673:M463I;ENSP00000340758:M411I	ENSP00000253673:M463I	M	-	3	0	EMR3	14610012	0.003000	0.15002	0.320000	0.25306	0.073000	0.16967	0.102000	0.15272	0.090000	0.17273	0.650000	0.86243	ATG	.		0.557	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		A	14749012	C	A	14749012	3	1	10	1	0	0	0	0	1	0	0	0	5122	826	29	3	593	3	EMR3	19	14749012	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5668478	14749012	44379971	385	2711											
CPAMD8	27151	bcgsc.ca	37	chr19	17108135	17108135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcagatgtcgaagtccCgggagccgaggatctggagg	16	10	2	1	rs3745340	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17108135C>T	ENST00000443236.1	-	11	1053	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.R294Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	294						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTCGAAGTCCCGGGAGCCGAG	0.607													c|||	1649	0.329273	0.1649	0.353	5008	,	,		19240	0.5		0.3976	False		,,,				2504	0.2883				p.R341Q		.											.	CPAMD8-141	0			c.G1022A						.	C	GLN/ARG	795,3235		79,637,1299	13	15	14		1022	-3.8	0.8	19	dbSNP_107	14	3138,5204		619,1900,1652	no	missense	CPAMD8	NM_015692.2	43	698,2537,2951	TT,TC,CC		37.6169,19.727,31.7895	possibly-damaging	341/1933	17108135	3933,8439	2015	4171	6186	SO:0001583	missense	27151	exon11			AAGTCCCGGGAGC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1022G>A	19.37:g.17108135C>T	ENSP00000402505:p.Arg341Gln	Somatic	318	2		WXS	Illumina GAIIx	Phase_I	329	11	NM_015692	0	0	0	0	0	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	815|815	0.3731684981684982|0.3731684981684982	87|87	0.17682926829268292|0.17682926829268292	147|147	0.40607734806629836|0.40607734806629836	276|276	0.4825174825174825|0.4825174825174825	305|305	0.4023746701846966|0.4023746701846966	c|c	9.619|9.619	1.133286|1.133286	0.21041|0.21041	0.19727|0.19727	0.376169|0.376169	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.51325	.|0.71;0.72	3.0|3.0	-3.79|-3.79	0.04320|0.04320	.|.	.|0.186387	.|0.32488	.|N	.|0.006027	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00707|0.00707	-1.245|-1.245	0.51767|0.51767	P|P	6.799999999995698E-5|6.799999999995698E-5	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.47315|0.47315	-0.9127|-0.9127	4|9	.|0.25751	.|T	.|0.34	.|.	6.6288|6.6288	0.22845|0.22845	0.0:0.38:0.371:0.2489|0.0:0.38:0.371:0.2489	rs3745340;rs57931423;rs3745340|rs3745340;rs57931423;rs3745340	.|294	.|Q8IZJ3	.|CPMD8_HUMAN	R|Q	352|341;294	.|ENSP00000291440:R341Q;ENSP00000373577:R294Q	.|ENSP00000291440:R341Q	G|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16969135|16969135	0.997000|0.997000	0.39634|0.39634	0.786000|0.786000	0.31890|0.31890	0.743000|0.743000	0.42351|0.42351	2.354000|2.354000	0.44098|0.44098	-0.514000|-0.514000	0.06488|0.06488	-0.417000|-0.417000	0.06048|0.06048	GGG|CGG	C|0.647;T|0.353		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17108135	C	T	17108135	3	4	10	1	0	0	0	0	1	0	0	0	3802	652	23	1	4904	1	CPAMD8	19	17108135	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2359123	17108135	42020848	386	2712											
SLC27A1	376497	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	17598000	17598000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggtggccgaagtgagcGggcatctggggaaaagtttg	18	7	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17598000G>T	ENST00000252595.7	+	3	677	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	SLC27A1_ENST00000598424.1_Missense_Mutation_p.G15W|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.G194W	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	194	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGAAGTGAGCGGGCATCTGGG	0.657																																					p.G194W		.											.	SLC27A1-226	0			c.G580T						.						78	83	81					19																	17598000		2203	4300	6503	SO:0001583	missense	376497	exon3			GTGAGCGGGCATC	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.580G>T	19.37:g.17598000G>T	ENSP00000252595:p.Gly194Trp	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	48	38	NM_198580	0	0	0	0	0	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466215	0.26335	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.42131	0.98;0.98	4.12	1.8	0.24995	AMP-dependent synthetase/ligase (1);	1.269260	0.05399	N	0.540367	T	0.56688	0.2002	L	0.61036	1.89	0.09310	N	1	D;D	0.61697	0.957;0.99	P;P	0.59357	0.856;0.856	T	0.33979	-0.9847	10	0.72032	D	0.01	.	7.091	0.25283	0.0:0.3634:0.45:0.1866	.	15;194	B7Z662;Q6PCB7	.;S27A1_HUMAN	W	194;194;56	ENSP00000413424:G194W;ENSP00000252595:G194W	ENSP00000252595:G194W	G	+	1	0	SLC27A1	17459000	0.000000	0.05858	0.081000	0.20488	0.255000	0.26057	0.722000	0.25925	0.326000	0.23384	0.462000	0.41574	GGG	.		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		T	17598000	G	T	17598000	3	4	10	1	0	0	0	0	1	0	0	0	14570	1116	39	2	590	2	SLC27A1	19	17598000	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	489865	17598000	41530983	387	2713											
SLC5A5	6528	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	17994715	17994715	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgtgggtggccttgggCgccacgctgtacccacccag	14	15	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17994715C>A	ENST00000222248.3	+	12	1733	c.1386C>A	c.(1384-1386)ggC>ggA	p.G462G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	462					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGCCTTGGGCGCCACGCTGT	0.721																																					p.G462G	Melanoma(65;1008 1708 7910 46650)	.											.	SLC5A5-93	0			c.C1386A						.						8	7	8					19																	17994715		2155	4214	6369	SO:0001819	synonymous_variant	6528	exon12			CTTGGGCGCCACG		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1386C>A	19.37:g.17994715C>A		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	44	27	NM_000453	0	0	0	0	0	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																			.		0.721	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			A	17994715	C	A	17994715	2	1	10	1	0	0	0	0	0	0	0	1	14713	755	27	2		2	SLC5A5	19	17994715	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	396715	17994715	41134268	388	2714											
ZNF536	9745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	30935331	30935331	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaagttcaagaagcgcgagGagctggaccgccacatccgc	13	13	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:30935331G>T	ENST00000355537.3	+	2	1009	c.862G>T	c.(862-864)Gag>Tag	p.E288*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	288					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)					GAAGCGCGAGGAGCTGGACCG	0.652																																					p.E288X		.											.	ZNF536-144	0			c.G862T						.						37	42	40					19																	30935331		2202	4300	6502	SO:0001587	stop_gained	9745	exon2			CGCGAGGAGCTGG		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.862G>T	19.37:g.30935331G>T	ENSP00000347730:p.Glu288*	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	55	26	NM_014717	0	0	0	0	0	A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.366846	0.97511	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-40.2727	19.8172	0.96573	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000347730:E288X	E	+	1	0	ZNF536	35627171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.440000	0.97547	2.702000	0.92279	0.491000	0.48974	GAG	.		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30935331	G	T	30935331	4	4	10	1	0	0	0	0	0	1	0	0	18022	1175	41	3	864	3	ZNF536	19	30935331	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	12940616	30935331	28193652	389	2715											
PDCD5	9141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	33078192	33078192	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtaatggactctgatgaaGatgacgattattgaactaca	9	5	1	5			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:33078192G>C	ENST00000590247.2	+	6	558	c.364G>C	c.(364-366)Gat>Cat	p.D122H	PDCD5_ENST00000592786.1_3'UTR|PDCD5_ENST00000379316.3_3'UTR|PDCD5_ENST00000586035.1_Missense_Mutation_p.D84H|PDCD5_ENST00000419343.3_3'UTR	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	122					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D122H(1)		breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTCTGATGAAGATGACGATTA	0.333																																					p.D122H		.											.	PDCD5-228	1	Substitution - Missense(1)	breast(1)	c.G364C						.						91	90	91					19																	33078192		2203	4300	6503	SO:0001583	missense	9141	exon6			GATGAAGATGACG	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.364G>C	19.37:g.33078192G>C	ENSP00000466214:p.Asp122His	Somatic	304	1		WXS	Illumina GAIIx	Phase_I	317	150	NM_004708	0	0	183	348	165	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244486	0.79912	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.31	5.31	0.75309	.	0.238860	0.48767	D	0.000165	T	0.80618	0.4657	M	0.92026	3.265	0.80722	D	1	P	0.41313	0.745	P	0.46629	0.522	D	0.84991	0.0894	9	0.87932	D	0	.	18.9373	0.92590	0.0:0.0:1.0:0.0	.	122	O14737	PDCD5_HUMAN	H	122	.	ENSP00000221784:D122H	D	+	1	0	PDCD5	37770032	1.000000	0.71417	0.991000	0.47740	0.739000	0.42172	7.923000	0.87546	2.646000	0.89796	0.467000	0.42956	GAT	.		0.333	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		C	33078192	G	C	33078192	3	2	10	1	0	0	0	0	1	0	0	0	11661	942	33	3	386	3	PDCD5	19	33078192	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2142861	33078192	26050791	390	2716											
HAUS5	23354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36110596	36110596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagctgctgcgctgtctgGaggaggaagtccggcatttg	18	8	1	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:36110596G>A	ENST00000203166.5	+	15	1367	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	448					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCGCTGTCTGGAGGAGGAAGT	0.657																																					p.E448K		.											.	HAUS5-68	0			c.G1342A						.						23	26	25					19																	36110596		2118	4243	6361	SO:0001583	missense	23354	exon15			TGTCTGGAGGAGG	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1342G>A	19.37:g.36110596G>A	ENSP00000439056:p.Glu448Lys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	235	68	NM_015302	0	0	2	5	3	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	7.256	0.604249	0.14002	.	.	ENSG00000249115	ENST00000203166	T	0.30448	1.53	4.5	2.3	0.28687	.	0.590118	0.17945	N	0.156709	T	0.14356	0.0347	N	0.14661	0.345	0.33214	D	0.553748	B	0.09022	0.002	B	0.11329	0.006	T	0.21449	-1.0245	10	0.16896	T	0.51	-18.1804	5.34	0.15979	0.1159:0.2081:0.676:0.0	.	448	O94927	HAUS5_HUMAN	K	448	ENSP00000439056:E448K	ENSP00000439056:E448K	E	+	1	0	HAUS5	40802436	0.998000	0.40836	0.960000	0.40013	0.157000	0.22087	1.931000	0.40134	0.475000	0.27415	0.561000	0.74099	GAG	.		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			A	36110596	G	A	36110596	3	1	10	1	0	0	0	0	1	0	0	0	6996	1175	41	3	1400	3	HAUS5	19	36110596	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3032404	36110596	23018387	391	2717											
LRFN3	79414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36435463	36435463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcaggatgatcccggcgGagagccgctcgttcctgctg	14	14	0	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:36435463G>A	ENST00000588831.1	+	4	2483	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	LRFN3_ENST00000246529.3_Missense_Mutation_p.E477K|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	477	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATCCCGGCGGAGAGCCGCTC	0.687																																					p.E477K		.											.	LRFN3-90	0			c.G1429A						.						10	12	11					19																	36435463		2195	4273	6468	SO:0001583	missense	79414	exon3			CCGGCGGAGAGCC	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1429G>A	19.37:g.36435463G>A	ENSP00000466989:p.Glu477Lys	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	78	26	NM_024509	0	0	3	5	2	Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332288	0.24167	.	.	ENSG00000126243	ENST00000246529	T	0.04502	3.61	4.89	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.404524	0.18180	N	0.149175	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.29077	0.098	T	0.43458	-0.9390	10	0.33141	T	0.24	.	3.6393	0.08161	0.1917:0.0:0.6013:0.207	.	477	Q9BTN0	LRFN3_HUMAN	K	477	ENSP00000246529:E477K	ENSP00000246529:E477K	E	+	1	0	LRFN3	41127303	0.008000	0.16893	0.957000	0.39632	0.099000	0.18886	0.714000	0.25808	1.012000	0.39366	0.313000	0.20887	GAG	.		0.687	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		A	36435463	G	A	36435463	3	1	10	1	0	0	0	0	1	0	0	0	8974	1175	41	3	1435	3	LRFN3	19	36435463	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	324867	36435463	22693520	392	2718											
ZNF567	163081	broad.mit.edu;bcgsc.ca	37	chr19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtggaaagtccttcCgccagaagacaacccttgta	10	10	0	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433																																					p.R428C		.											.	ZNF567-90	0			c.C1282T						.						75	79	78					19																	37211001		2203	4300	6503	SO:0001583	missense	163081	exon4			TCCTTCCGCCAGA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1375C>T	19.37:g.37211001C>T	ENSP00000441838:p.Arg459Cys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	126	6	NM_152603	0	0	5	5	0	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC	.		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		T	37211001	C	T	37211001	3	4	10	1	0	0	0	0	1	0	0	0	18046	652	23	1	1292	1	ZNF567	19	37211001	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	775538	37211001	21917982	393	2719											
ZNF383	163087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	37734341	37734341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtcttgaatgtgggaaGgcctttactcagaactcaca	10	8	3	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:37734341G>T	ENST00000589413.1	+	8	1786	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N	ZNF383_ENST00000352998.3_Missense_Mutation_p.K401N|ZNF383_ENST00000590503.1_Missense_Mutation_p.K401N			Q8NA42	ZN383_HUMAN	zinc finger protein 383	401					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGGCCTTTACTC	0.398																																					p.K401N		.											.	ZNF383-92	0			c.G1203T						.						53	55	54					19																	37734341		2203	4300	6503	SO:0001583	missense	163087	exon5			TGGGAAGGCCTTT	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1203G>T	19.37:g.37734341G>T	ENSP00000464871:p.Lys401Asn	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	55	25	NM_152604	0	0	3	8	5	Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715878	0.48622	.	.	ENSG00000188283	ENST00000352998	T	0.27890	1.64	3.62	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33364	N	0.004984	T	0.54967	0.1891	M	0.89534	3.04	0.22142	N	0.999332	D	0.76494	0.999	D	0.85130	0.997	T	0.44772	-0.9306	10	0.87932	D	0	.	5.6597	0.17662	0.4106:0.0:0.5894:0.0	.	401	Q8NA42	ZN383_HUMAN	N	401	ENSP00000340132:K401N	ENSP00000340132:K401N	K	+	3	2	ZNF383	42426181	0.005000	0.15991	1.000000	0.80357	0.990000	0.78478	-0.181000	0.09740	0.232000	0.21100	0.563000	0.77884	AAG	.		0.398	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		T	37734341	G	T	37734341	3	4	10	1	0	0	0	0	1	0	0	0	17922	991	35	3	1217	3	ZNF383	19	37734341	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	523340	37734341	21394642	394	2720											
ZNF793	390927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38027960	38027960	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcttttttcttcaatcCagagccctagtaactggaac	6	11	3	2	rs375136979		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:38027960C>T	ENST00000587143.1	+	6	635	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Nonsense_Mutation_p.Q134*|ZNF793_ENST00000589319.1_Nonsense_Mutation_p.Q134*|ZNF793_ENST00000445217.1_Nonsense_Mutation_p.Q134*			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTTCAATCCAGAGCCCTAG	0.368																																					p.Q134X	Melanoma(44;400 1431 1499 19093)	.											.	ZNF793-68	0			c.C400T						.	C	stop/GLN	0,3618		0,0,1809	60	57	58		400	1.8	0.2	19		58	1,8157		0,1,4078	no	stop-gained	ZNF793	NM_001013659.2		0,1,5887	TT,TC,CC		0.0123,0.0,0.0085		134/407	38027960	1,11775	1809	4079	5888	SO:0001587	stop_gained	390927	exon8			TCAATCCAGAGCC	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.400C>T	19.37:g.38027960C>T	ENSP00000468605:p.Gln134*	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	39	16	NM_001013659	0	0	0	0	0	E9PGN4|Q7Z3Q9	Nonsense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414719	0.83449	0.0	1.23E-4	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	.	.	.	4.15	1.75	0.24633	.	0.208510	0.24217	N	0.040461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.2465	0.37529	0.5208:0.4792:0.0:0.0	.	.	.	.	X	134;134;134;133	.	ENSP00000318811:Q133X	Q	+	1	0	ZNF793	42719800	0.868000	0.29978	0.167000	0.22817	0.445000	0.32107	1.096000	0.30976	1.034000	0.39945	0.655000	0.94253	CAG	.		0.368	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		T	38027960	C	T	38027960	4	4	10	1	0	0	0	0	0	1	0	0	18213	595	21	3	414	3	ZNF793	19	38027960	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	293619	38027960	21101023	395	2721											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39019290	39019290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaaggctgcatggatcctGactgaagaccacagttttga	10	9	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:39019290G>A	ENST00000359596.3	+	75	10989	c.10989G>A	c.(10987-10989)ctG>ctA	p.L3663L	RYR1_ENST00000360985.3_Silent_p.L3663L|RYR1_ENST00000355481.4_Silent_p.L3658L|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3663					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)	CATGGATCCTGACTGAAGACC	0.617																																					p.L3663L		.											.	RYR1-100	0			c.G10989A						.						125	104	111					19																	39019290		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon75			GATCCTGACTGAA	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.10989G>A	19.37:g.39019290G>A		Somatic	358	0		WXS	Illumina GAIIx	Phase_I	483	153	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39019290	G	A	39019290	2	1	10	1	0	0	0	0	0	0	0	1	13813	1277	45	3		3	RYR1	19	39019290	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	991330	39019290	20109693	396	2722											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	39038919	39038919	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggcagatggtggacatgctCgtggaatcctcatccaatgt	12	10	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:39038919C>A	ENST00000359596.3	+	89	12141	c.12141C>A	c.(12139-12141)ctC>ctA	p.L4047L	RYR1_ENST00000360985.3_Silent_p.L4042L|RYR1_ENST00000355481.4_Silent_p.L4042L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4047					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)	TGGACATGCTCGTGGAATCCT	0.562																																					p.L4047L		.											.	RYR1-100	0			c.C12141A						.						178	127	144					19																	39038919		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon89			CATGCTCGTGGAA	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.12141C>A	19.37:g.39038919C>A		Somatic	261	1		WXS	Illumina GAIIx	Phase_I	398	153	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39038919	C	A	39038919	2	1	10	1	0	0	0	0	0	0	0	1	13813	871	31	2		2	RYR1	19	39038919	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	19629	39038919	20090064	397	2723											
PRX	57716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	40901699	40901699	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtctagctccactgaaggcaGagtgagagaggggacaccca	14	10	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:40901699G>C	ENST00000324001.7	-	7	2830	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	854					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632																																					p.L854V		.											.	PRX-92	0			c.C2560G						.						69	73	71					19																	40901699		2203	4300	6503	SO:0001583	missense	57716	exon7			AAGGCAGAGTGAG	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2560C>G	19.37:g.40901699G>C	ENSP00000326018:p.Leu854Val	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	82	28	NM_181882	0	0	0	0	0	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694816	0.15039	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01295	5.04	4.91	0.382	0.16234	.	0.000000	0.34580	N	0.003845	T	0.02571	0.0078	L	0.29908	0.895	0.40554	D	0.98114	D	0.71674	0.998	D	0.77557	0.99	T	0.63980	-0.6514	10	0.31617	T	0.26	-16.6997	3.9541	0.09382	0.3538:0.0:0.4896:0.1566	.	854	Q9BXM0	PRAX_HUMAN	V	854	ENSP00000326018:L854V	ENSP00000326018:L854V	L	-	1	2	PRX	45593539	0.051000	0.20477	0.243000	0.24186	0.065000	0.16274	0.164000	0.16542	-0.073000	0.12842	-0.126000	0.14955	CTG	.		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		C	40901699	G	C	40901699	3	2	10	1	0	0	0	0	1	0	0	0	12684	933	33	3	1829	3	PRX	19	40901699	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1862780	40901699	18227284	398	2724											
GRIK5	2901	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42507538	42507538	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaattccatgaccgccacGaagacagcaatgatgaggcc	10	11	0	5	rs371522864	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:42507538G>A	ENST00000262895.3	-	18	2459	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	GRIK5_ENST00000301218.4_Silent_p.F820F|GRIK5_ENST00000593562.1_Silent_p.F820F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	820					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)				TGACCGCCACGAAGACAGCAA	0.592													G|||	2	0.000399361	0	0	5008	,	,		12821	0		0.001	False		,,,				2504	0.001				p.F820F		.											.	GRIK5-90	0			c.C2460T						.	G		0,4406		0,0,2203	96	81	86		2460	-2.4	1	19		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		820/981	42507538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2901	exon18			CGCCACGAAGACA		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.2460C>T	19.37:g.42507538G>A		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	215	13	NM_002088	0	0	0	0	0	Q8WWG8	Silent	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027411	0.19512	0.0	1.16E-4	ENSG00000105737	ENST00000454993	.	.	.	4.31	-2.37	0.06643	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	.	5.6157	0.17430	0.4532:0.1365:0.4103:0.0	.	.	.	.	C	197	.	.	R	-	1	0	GRIK5	47199378	0.363000	0.24989	0.995000	0.50966	0.975000	0.68041	-0.165000	0.09968	-0.193000	0.10415	-0.367000	0.07326	CGT	.		0.592	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42507538	G	A	42507538	2	1	10	1	0	0	0	0	0	0	0	1	6804	1049	37	1		1	GRIK5	19	42507538	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1605839	42507538	16621445	399	2725											
CBLC	23624	hgsc.bcm.edu	37	chr19	45281452	45281452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctacctggccaatctggaGgccaagagcaggcaggtggc	14	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:45281452G>T	ENST00000270279.3	+	1	327	c.264G>T	c.(262-264)gaG>gaT	p.E88D	CBLC_ENST00000341505.4_Missense_Mutation_p.E88D	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	88	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCAATCTGGAGGCCAAGAGCA	0.706			M		AML																																p.E88D		.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC-849	0			c.G264T						.						4	6	6					19																	45281452		1990	3915	5905	SO:0001583	missense	23624	exon1			TCTGGAGGCCAAG	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.264G>T	19.37:g.45281452G>T	ENSP00000270279:p.Glu88Asp	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	39	4	NM_001130852	0	0	0	0	0	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630601	0.28978	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76316	-1.01;-1.01	3.49	1.11	0.20524	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.248288	0.28327	N	0.015749	T	0.76990	0.4065	M	0.72479	2.2	0.27815	N	0.942017	D;P	0.56968	0.978;0.946	P;P	0.53912	0.736;0.737	T	0.65796	-0.6081	10	0.22109	T	0.4	-12.7846	4.3804	0.11291	0.1328:0.2347:0.6325:0.0	.	88;88	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	D	88	ENSP00000270279:E88D;ENSP00000340250:E88D	ENSP00000270279:E88D	E	+	3	2	CBLC	49973292	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	0.969000	0.29370	0.815000	0.34398	-0.265000	0.10407	GAG	.		0.706	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		T	45281452	G	T	45281452	3	4	10	1	0	0	0	0	1	0	0	0	2709	991	35	3	266	3	CBLC	19	45281452	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2773914	45281452	13847531	400	2726											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	33	12	NM_000041	0	0	70	135	65	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	10	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	130489	45411941	13717042	401	2727											
DHX34	9704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr19	47878770	47878770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggggcccaggccgcgcaGgtaggggacagctacagtcg	18	12	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:47878770G>T	ENST00000328771.4	+	10	2461	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	704					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGCCGCGCAGGTAGGGGACA	0.721																																					p.Q704H		.											.	DHX34-231	0			c.G2112T						.						10	11	11					19																	47878770		2160	4222	6382	SO:0001583	missense	9704	exon10			CGCGCAGGTAGGG	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2112G>T	19.37:g.47878770G>T	ENSP00000331907:p.Gln704His	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	26	10	NM_014681	0	0	7	10	3	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	5.004	0.186416	0.09495	.	.	ENSG00000134815	ENST00000328771	T	0.02812	4.15	4.54	-1.28	0.09318	Domain of unknown function DUF1605 (1);	3.140670	0.00728	N	0.000925	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B	0.30741	0.293	B	0.38428	0.273	T	0.42999	-0.9418	10	0.72032	D	0.01	-0.283	4.9846	0.14183	0.3059:0.2762:0.4179:0.0	.	704	Q14147	DHX34_HUMAN	H	704	ENSP00000331907:Q704H	ENSP00000331907:Q704H	Q	+	3	2	DHX34	52570569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.055000	0.14229	0.093000	0.17368	0.655000	0.94253	CAG	.		0.721	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47878770	G	T	47878770	3	4	10	1	0	0	0	0	1	0	0	0	4521	991	35	3	2146	3	DHX34	19	47878770	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	2466829	47878770	11250213	402	2728											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258037	48258037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggggagccaggccagggCgaggggccggaggctgggga	25	8	0	0	rs375037039		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48258037C>T	ENST00000246802.5	+	8	980	c.942C>T	c.(940-942)ggC>ggT	p.G314G	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	314						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAGGCCAGGGCGAGGGGCCGG	0.711																																					p.G314G	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.C942T						.	C		0,4150		0,0,2075	10	15	13		942	-0.8	0	19		13	2,8196		0,2,4097	no	coding-synonymous	GLTSCR2	NM_015710.4		0,2,6172	TT,TC,CC		0.0244,0.0,0.0162		314/479	48258037	2,12346	2075	4099	6174	SO:0001819	synonymous_variant	29997	exon8			CCAGGGCGAGGGG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.942C>T	19.37:g.48258037C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	45	18	NM_015710	1	0	141	285	143	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1																																																																																			.		0.711	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		T	48258037	C	T	48258037	2	4	10	1	0	0	0	0	0	0	0	1	6501	755	27	1		1	GLTSCR2	19	48258037	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	379267	48258037	10870946	403	2729											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagctggcgcggcggcAgaggcggcggcaggcgcggc	24	12	0	1	rs1804994	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1	2	1					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015710	0	0	0	4	4	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		G	48258717	A	G	48258717	3	3	10	1	0	0	0	0	1	0	0	0	6501	188	7	4	1200	4	GLTSCR2	19	48258717	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	680	48258717	10870266	404	2730											
LMTK3	114783	hgsc.bcm.edu	37	chr19	48994785	48994785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctggacgctcagctcgttGgttggcgtctcctgtgaagg	15	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48994785G>T	ENST00000600059.1	-	13	4331	c.4104C>A	c.(4102-4104)acC>acA	p.T1368T	LMTK3_ENST00000270238.3_Silent_p.T1397T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1368	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCAGCTCGTTGGTTGGCGTCT	0.642																																					p.T1397T		.											.	LMTK3-1357	0			c.C4191A						.						6	8	7					19																	48994785		1739	3873	5612	SO:0001819	synonymous_variant	114783	exon14			CTCGTTGGTTGGC	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4104C>A	19.37:g.48994785G>T		Somatic	25	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_001080434	0	0	0	0	0	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.642	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		T	48994785	G	T	48994785	2	4	10	1	0	0	0	0	0	0	0	1	8890	1335	47	3		3	LMTK3	19	48994785	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	736068	48994785	10134198	405	2731											
SPHK2	56848	hgsc.bcm.edu	37	chr19	49132867	49132867	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctgtccgcagctggGctacgccgcggcccgtgcct	15	17	0	0	rs61751862	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:49132867G>C	ENST00000245222.4	+	7	2168	c.1802G>C	c.(1801-1803)gGc>gCc	p.G601A	SPHK2_ENST00000443164.1_Missense_Mutation_p.G663A|SPHK2_ENST00000599748.1_Missense_Mutation_p.G565A|SPHK2_ENST00000598088.1_Missense_Mutation_p.G601A|SPHK2_ENST00000600537.1_Missense_Mutation_p.G542A|SPHK2_ENST00000340932.3_Missense_Mutation_p.G563A|SPHK2_ENST00000599029.1_Missense_Mutation_p.G565A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	601					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)		CCGCAGCTGGGCTACGCCGCG	0.687													G|||	23	0.00459265	0.0023	0.0072	5008	,	,		15679	0		0.0129	False		,,,				2504	0.002				p.G601A		.											.	SPHK2-658	0			c.G1802C						.	G	ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY	7,4389		0,7,2191	18	16	17		1625,1802,1694,1802	4.8	1	19	dbSNP_129	17	100,8490		1,98,4196	yes	missense,missense,missense,missense	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	60,60,60,60	1,105,6387	CC,CG,GG		1.1641,0.1592,0.824	probably-damaging,probably-damaging,probably-damaging,probably-damaging	542/596,601/655,565/619,601/655	49132867	107,12879	2198	4295	6493	SO:0001583	missense	56848	exon7			AGCTGGGCTACGC	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.1802G>C	19.37:g.49132867G>C	ENSP00000245222:p.Gly601Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	135	62	NM_020126	0	0	3	10	7	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	14	0.00641025641025641	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	10	0.013192612137203167	G	14.15	2.450567	0.43531	0.001592	0.011641	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.13307	2.6;2.6;2.6	4.78	4.78	0.61160	.	0.102441	0.64402	D	0.000004	T	0.06371	0.0164	N	0.22421	0.69	0.29856	N	0.82804	P;P;P	0.46220	0.465;0.874;0.861	B;B;B	0.42555	0.168;0.297;0.391	T	0.06373	-1.0830	10	0.11485	T	0.65	-10.9756	11.387	0.49791	0.0:0.1831:0.8169:0.0	rs61751862	542;663;601	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	A	601;574;563;663	ENSP00000245222:G601A;ENSP00000341091:G563A;ENSP00000413369:G663A	ENSP00000245222:G601A	G	+	2	0	SPHK2	53824679	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.612000	0.24283	2.653000	0.90120	0.555000	0.69702	GGC	G|0.994;C|0.006		0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			C	49132867	G	C	49132867	3	2	10	1	0	0	0	0	1	0	0	0	15094	1203	42	3	1824	3	SPHK2	19	49132867	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	138082	49132867	9996116	406	2732											
POLD1	5424	mdanderson.org	37	chr19	50905080	50905080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccccaccatcccgcggctCcgtgcctgtgctccgcgcct	10	22	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:50905080C>T	ENST00000440232.2	+	4	415	c.362C>T	c.(361-363)tCc>tTc	p.S121F	POLD1_ENST00000599857.1_Missense_Mutation_p.S121F|POLD1_ENST00000595904.1_Missense_Mutation_p.S121F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	121					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCCGCGGCTCCGTGCCTGTG	0.682								DNA polymerases (catalytic subunits)																													p.S121F		.											.	POLD1-840	0			c.C362T						.						40	44	42					19																	50905080		2203	4300	6503	SO:0001583	missense	5424	exon4			GCGGCTCCGTGCC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.362C>T	19.37:g.50905080C>T	ENSP00000406046:p.Ser121Phe	Somatic	25	1		WXS	Illumina GAIIx	Phase_I	88	40	NM_002691	0	0	1	5	4	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898161	0.33535	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.24723	1.84	4.04	2.96	0.34315	Ribonuclease H-like (1);	1.713730	0.03092	N	0.159928	T	0.31482	0.0798	L	0.55990	1.75	0.09310	N	1	P;B	0.38300	0.626;0.396	B;B	0.36534	0.227;0.163	T	0.42949	-0.9421	10	0.72032	D	0.01	-10.2887	11.9142	0.52755	0.1761:0.8239:0.0:0.0	.	121;121	E7EVW0;P28340	.;DPOD1_HUMAN	F	121;122	ENSP00000406046:S121F	ENSP00000366129:S122F	S	+	2	0	POLD1	55596892	0.006000	0.16342	0.002000	0.10522	0.022000	0.10575	2.219000	0.42899	0.788000	0.33755	0.455000	0.32223	TCC	.		0.682	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			T	50905080	C	T	50905080	3	4	10	1	0	0	0	0	1	0	0	0	12229	855	30	3	372	3	POLD1	19	50905080	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1772213	50905080	8223903	407	2733											
POLD1	5424	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	50918779	50918779	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatatctcccagctggtcatCaccaaggagctgacccgcgc	10	15	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:50918779C>T	ENST00000440232.2	+	21	2702	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	POLD1_ENST00000599857.1_Silent_p.I883I|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.I909I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	883					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGGTCATCACCAAGGAGC	0.677								DNA polymerases (catalytic subunits)																													p.I883I		.											.	POLD1-840	0			c.C2649T						.						39	31	34					19																	50918779		2203	4299	6502	SO:0001819	synonymous_variant	5424	exon21			GGTCATCACCAAG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2649C>T	19.37:g.50918779C>T		Somatic	157	1		WXS	Illumina GAIIx	Phase_I	445	142	NM_002691	0	0	24	44	20	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			.		0.677	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			T	50918779	C	T	50918779	2	4	10	1	0	0	0	0	0	0	0	1	12229	816	29	3		3	POLD1	19	50918779	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	13699	50918779	8210204	408	2734											
LIM2	3982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	51890472	51890473	+	Intron	DNP	CC	CC	AA													gtgtccttgggccccgaggtCcgccctgctctttccccagg					rs147625714|rs2741232	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:51890472_51890473CC>AA	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.D76Y	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						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)		GCCCCGAGGTCCGCCCTGCTCT	0.634																																					p.D76Y		.											.	LIM2-90	0			c.G225T						.																																			SO:0001627	intron_variant	3982	exon2			GAGGTCCGCCCTG		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.176_176delinsAA	19.37:g.51890472_51890473delinsAA		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_030657	0	0	0	0	0	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	DNP	ENST00000596399.1	37	CCDS59415.1																																																																																			C|0.999;T|0.001		0.634	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		AA	51890473	CC	AA	51890472	1	1	10	0	1	0	0	0	0	0	0	0	8824	855	30	3		3	LIM2	19	51890472	Intron	DNP	CC	TCGA-OR-A5JB-01A-11D-A29I-10	971693	51890472	7238511	409	2735											
FPR1	2357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52249798	52249798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggagcagagccatcacCcagggcccaatgatcacctt	11	13	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:52249798C>A	ENST00000595042.1	-	3	591	c.450G>T	c.(448-450)tgG>tgT	p.W150C	FPR1_ENST00000304748.4_Missense_Mutation_p.W150C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	150					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)	GAGCCATCACCCAGGGCCCAA	0.552																																					p.W150C		.											.	FPR1-524	0			c.G450T						.						75	68	71					19																	52249798		2203	4300	6503	SO:0001583	missense	2357	exon3			CATCACCCAGGGC	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.450G>T	19.37:g.52249798C>A	ENSP00000471493:p.Trp150Cys	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	242	93	NM_001193306	0	0	8	10	2	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	17.41	3.383339	0.61845	.	.	ENSG00000171051	ENST00000304748	D	0.88818	-2.43	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.96645	0.8905	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97764	1.0222	10	0.87932	D	0	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	150	P21462	FPR1_HUMAN	C	150	ENSP00000302707:W150C	ENSP00000302707:W150C	W	-	3	0	FPR1	56941610	1.000000	0.71417	0.257000	0.24404	0.033000	0.12548	7.031000	0.76491	1.960000	0.56953	0.655000	0.94253	TGG	.		0.552	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52249798	C	A	52249798	3	1	10	1	0	0	0	0	1	0	0	0	6062	624	22	3	606	3	FPR1	19	52249798	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	359326	52249798	6879185	410	2736											
VN1R2	317701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	53762456	53762456	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgttttgtgtctggggctCatgctctgggccagcagctc	14	10	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:53762456C>T	ENST00000341702.3	+	1	912	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	276					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTCTGGGGCTCATGCTCTGGG	0.468																																					p.L276L		.											.	VN1R2-90	0			c.C828T						.						149	139	142					19																	53762456		2203	4300	6503	SO:0001819	synonymous_variant	317701	exon1			GGGGCTCATGCTC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.828C>T	19.37:g.53762456C>T		Somatic	138	2		WXS	Illumina GAIIx	Phase_I	181	63	NM_173856	0	0	0	0	0	A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	CCDS12862.1																																																																																			.		0.468	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		T	53762456	C	T	53762456	2	4	10	1	0	0	0	0	0	0	0	1	17228	813	29	3		3	VN1R2	19	53762456	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	1512658	53762456	5366527	411	2737											
LILRB5	10990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54756391	54756391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctctggccccgcagccCctgcaggacggtagaaatgg	15	13	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:54756391C>A	ENST00000316219.5	-	10	1600	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Missense_Mutation_p.G499V|LILRB5_ENST00000450632.1_Missense_Mutation_p.G490V|LILRB5_ENST00000345866.6_Missense_Mutation_p.G399V	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	498					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCGCAGCCCCTGCAGGACG	0.607																																					p.G499V		.											.	LILRB5-92	0			c.G1496T						.						89	86	87					19																	54756391		2203	4300	6503	SO:0001583	missense	10990	exon10			GCAGCCCCTGCAG	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.1493G>T	19.37:g.54756391C>A	ENSP00000320390:p.Gly498Val	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	55	32	NM_001081442	0	0	19	19	0	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034193	0.35893	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00523	6.94;6.83;6.91;6.9	1.91	1.91	0.25777	.	.	.	.	.	T	0.01421	0.0046	M	0.82323	2.585	0.19775	N	0.999954	D;D;B;B	0.57899	0.966;0.981;0.05;0.017	P;P;B;B	0.62885	0.518;0.908;0.026;0.015	T	0.42582	-0.9443	9	0.66056	D	0.02	.	7.3327	0.26592	0.0:1.0:0.0:0.0	.	490;399;499;498	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	V	498;490;499;399	ENSP00000320390:G498V;ENSP00000414225:G490V;ENSP00000406478:G499V;ENSP00000263430:G399V	ENSP00000320390:G498V	G	-	2	0	LILRB5	59448203	0.000000	0.05858	0.059000	0.19551	0.006000	0.05464	-0.354000	0.07681	1.360000	0.45960	0.460000	0.39030	GGG	.		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54756391	C	A	54756391	3	1	10	1	0	0	0	0	1	0	0	0	8823	623	22	3	295	3	LILRB5	19	54756391	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	993935	54756391	4372592	412	2738											
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_017607	0	0	2	3	1		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	10	1	0	0	0	0	0	0	0	1	12398	378	14	4		4	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	872218	55628609	3500374	413	2739											
ZNF628	89887	hgsc.bcm.edu;broad.mit.edu	37	chr19	55993021	55993021	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctacccgtgcccggactgccCcaaggccttcaagaactcgt	9	17	1	1	rs369974817		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55993021C>G	ENST00000598519.1	+	3	1014	c.461C>G	c.(460-462)cCc>cGc	p.P154R	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154					transcription, DNA-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)		CCGGACTGCCCCAAGGCCTTC	0.667																																					p.P154R		.											.	ZNF628-22	0			c.C461G						.	C	ARG/PRO	0,4406		0,0,2203	32	33	33		449	1.4	1	19		33	1,8593		0,1,4296	no	missense	ZNF628	NM_033113.2	103	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	150/1056	55993021	1,12999	2203	4297	6500	SO:0001583	missense	89887	exon3			ACTGCCCCAAGGC	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.461C>G	19.37:g.55993021C>G	ENSP00000469591:p.Pro154Arg	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	200	23	NM_033113	0	0	1	1	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.036	0.762883	0.15914	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.03468	3.92	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.07728	0.0194	L	0.40543	1.245	0.23677	N	0.997137	D	0.53462	0.96	P	0.59424	0.857	T	0.11743	-1.0575	10	0.87932	D	0	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	R	150	ENSP00000375598:P150R	ENSP00000375598:P150R	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC	.		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993021	C	G	55993021	3	3	10	1	0	0	0	0	1	0	0	0	18100	623	22	3	451	3	ZNF628	19	55993021	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	364412	55993021	3135962	414	2740											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993436	55993436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggagaccacggtggaGctggtgtaccgctgcgatgg	19	10	0	1	rs147110934	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55993436G>T	ENST00000598519.1	+	3	1429	c.876G>T	c.(874-876)gaG>gaT	p.E292D	ZNF628_ENST00000391718.2_Missense_Mutation_p.E288D|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	292	Pro-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)		CCACGGTGGAGCTGGTGTACC	0.761													-|||	28	0.00559105	0	0.0101	5008	,	,		4077	0		0.0159	False		,,,				2504	0.0051				p.E292D		.											.	ZNF628-22	0			c.G876T						.						2	2	2					19																	55993436		1044	1952	2996	SO:0001583	missense	89887	exon3			GGTGGAGCTGGTG	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.876G>T	19.37:g.55993436G>T	ENSP00000469591:p.Glu292Asp	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	25	18	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	48	0.02197802197802198	8	0.016260162601626018	15	0.04143646408839779	3	0.005244755244755245	22	0.029023746701846966	.	13.85	2.358787	0.41801	.	.	ENSG00000197483	ENST00000391718	T	0.08546	3.08	3.23	3.23	0.37069	.	0.124168	0.33092	U	0.005298	T	0.01287	0.0042	N	0.19112	0.55	0.22034	N	0.999409	B	0.23316	0.083	B	0.21360	0.034	T	0.32929	-0.9888	10	0.72032	D	0.01	-13.3968	12.4479	0.55662	0.0:0.0:1.0:0.0	.	288	Q5EBL2	ZN628_HUMAN	D	288	ENSP00000375598:E288D	ENSP00000375598:E288D	E	+	3	2	ZNF628	60685248	0.997000	0.39634	1.000000	0.80357	0.751000	0.42716	1.731000	0.38135	1.861000	0.53984	0.459000	0.35465	GAG	G|0.978;T|0.022		0.761	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		T	55993436	G	T	55993436	3	4	10	1	0	0	0	0	1	0	0	0	18100	962	34	3	866	3	ZNF628	19	55993436	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	415	55993436	3135547	415	2741											
NLRP8	126205	broad.mit.edu;bcgsc.ca	37	chr19	56467088	56467088	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaagctatctctctcacaTgggacttttcttattcggtt	6	10	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56467088T>A	ENST00000291971.3	+	3	1735	c.1664T>A	c.(1663-1665)aTg>aAg	p.M555K	NLRP8_ENST00000590542.1_Missense_Mutation_p.M555K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	555					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)		CTCTCTCACATGGGACTTTTC	0.468																																					p.M555K		.											.	NLRP8-361	0			c.T1664A						.						74	70	71					19																	56467088		2203	4300	6503	SO:0001583	missense	126205	exon3			CTCACATGGGACT	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.1664T>A	19.37:g.56467088T>A	ENSP00000291971:p.Met555Lys	Somatic	52	1		WXS	Illumina GAIIx	Phase_I	55	24	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842026	0.51057	.	.	ENSG00000179709	ENST00000291971	D	0.84070	-1.8	2.04	2.04	0.26737	.	.	.	.	.	D	0.84817	0.5556	L	0.45352	1.415	0.23708	N	0.997058	P;D	0.76494	0.903;0.999	P;D	0.71414	0.455;0.973	T	0.71817	-0.4478	9	0.72032	D	0.01	.	6.0859	0.19966	0.0:0.0:0.0:1.0	.	555;555	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	555	ENSP00000291971:M555K	ENSP00000291971:M555K	M	+	2	0	NLRP8	61158900	0.307000	0.24500	0.188000	0.23233	0.236000	0.25371	0.686000	0.25392	1.193000	0.43086	0.421000	0.28195	ATG	.		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56467088	T	A	56467088	3	1	10	1	0	0	0	0	1	0	0	0	10522	1464	51	5	1674	5	NLRP8	19	56467088	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	473652	56467088	2661895	416	2742											
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56511131	56511131	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaacttggagctgctgctCtgctctcagcatcaccacgt	9	13	3	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56511131C>G	ENST00000390649.3	+	1	40	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	14					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)		agctgcTGCTCTGCTCTCAGC	0.532																																					p.L14V		.											.	NLRP5-162	0			c.C40G						.						202	205	204					19																	56511131		2103	4227	6330	SO:0001583	missense	126206	exon1			GCTGCTCTGCTCT	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.40C>G	19.37:g.56511131C>G	ENSP00000375063:p.Leu14Val	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	104	41	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	5.797	0.331452	0.10956	.	.	ENSG00000171487	ENST00000390649	T	0.73575	-0.76	0.492	0.492	0.16872	.	.	.	.	.	T	0.48978	0.1530	N	0.08118	0	0.09310	N	1	B	0.31054	0.306	B	0.20384	0.029	T	0.43393	-0.9394	8	0.87932	D	0	.	.	.	.	.	14	P59047	NALP5_HUMAN	V	14	ENSP00000375063:L14V	ENSP00000375063:L14V	L	+	1	2	NLRP5	61202943	0.004000	0.15560	0.012000	0.15200	0.017000	0.09413	0.283000	0.18846	0.528000	0.28580	0.298000	0.19748	CTG	.		0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		G	56511131	C	G	56511131	3	3	10	1	0	0	0	0	1	0	0	0	10519	912	32	3	42	3	NLRP5	19	56511131	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	44043	56511131	2617852	417	2743											
ZNF548	147694	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	57911240	57911240	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acatcagagatttcacaatgGagaaagtttaccattgacta	7	7	2	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:57911240G>T	ENST00000366197.5	+	3	1835	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E541*	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	529					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		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTCACAATGGAGaaagttta	0.353																																					p.E541X		.											.	ZNF548-67	0			c.G1621T						.						24	23	23					19																	57911240		1882	4117	5999	SO:0001587	stop_gained	147694	exon4			ACAATGGAGAAAG	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1585G>T	19.37:g.57911240G>T	ENSP00000379482:p.Glu529*	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	28	14	NM_001172773	0	0	5	8	3	Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	38	6.746288	0.97809	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.59	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.7754	0.23617	0.1083:0.3381:0.5535:0.0	.	.	.	.	X	541;529	.	ENSP00000337555:E541X	E	+	1	0	ZNF548	62603052	0.014000	0.17966	0.006000	0.13384	0.748000	0.42578	0.171000	0.16685	-0.126000	0.11682	0.655000	0.94253	GAG	.		0.353	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		T	57911240	G	T	57911240	4	4	10	1	0	0	0	0	0	1	0	0	18028	1175	41	3	1635	3	ZNF548	19	57911240	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1400109	57911240	1217743	418	2744											
CPXM1	56265	hgsc.bcm.edu	37	chr20	2781078	2781078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgccggcggctgtgccggGctgctatgcagggccggggt	19	13	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:2781078G>T	ENST00000380605.2	-	1	205	c.141C>A	c.(139-141)agC>agA	p.S47R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	47					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						GCTGTGCCGGGCTGCTATGCA	0.756																																					p.S47R		.											.	CPXM1-94	0			c.C141A						.						5	7	6					20																	2781078		2113	4074	6187	SO:0001583	missense	56265	exon1			TGCCGGGCTGCTA	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.141C>A	20.37:g.2781078G>T	ENSP00000369979:p.Ser47Arg	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	38	27	NM_001184699	0	0	0	2	2	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527669	0.27299	.	.	ENSG00000088882	ENST00000380605	D	0.95518	-3.73	3.94	1.96	0.26148	.	1.071750	0.07309	N	0.875541	D	0.90007	0.6880	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80271	-0.1452	10	0.49607	T	0.09	-10.551	4.8895	0.13719	0.1122:0.0:0.6785:0.2093	.	47;47	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	R	47	ENSP00000369979:S47R	ENSP00000369979:S47R	S	-	3	2	CPXM1	2729078	0.015000	0.18098	0.054000	0.19295	0.002000	0.02628	1.123000	0.31308	0.437000	0.26423	-1.337000	0.01257	AGC	.		0.756	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2781078	G	T	2781078	3	4	10	1	0	0	0	0	1	0	0	0	3844	1194	42	3	2119	3	CPXM1	20	2781078	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		2781078	60244442	419	2745											
ProSAPiP1	9762	hgsc.bcm.edu	37	chr20	3145553	3145553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctcggccgggtccacGggggtcagcgccggcttgag	19	12	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:3145553G>A	ENST00000329152.3	-	3	2966	c.1569C>T	c.(1567-1569)ccC>ccT	p.P523P	LZTS3_ENST00000360342.3_Silent_p.P477P|LZTS3_ENST00000337576.5_Silent_p.P477P			O60299	LZTS3_HUMAN		523						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CCGGGTCCACGGGGGTCAGCG	0.706																																					p.P523P		.											.	.	0			c.C1569T						.						4	6	5					20																	3145553		2049	4022	6071	SO:0001819	synonymous_variant	0	exon3			GTCCACGGGGGTC																												ENST00000329152.3:c.1569C>T	20.37:g.3145553G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_014731	0	0	0	1	1	A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	CCDS13049.1																																																																																			.		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			A	3145553	G	A	3145553	2	1	10	1	0	0	0	0	0	0	0	1	12915	1103	39	1		1	ProSAPiP1	20	3145553	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	364475	3145553	59879967	420	2746											
PLCB4	5332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	9360778	9360778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgcagatcattgagatGtatgaacctgatgaagattt	10	5	1	6			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:9360778G>T	ENST00000378493.1	+	10	837	c.822G>T	c.(820-822)atG>atT	p.M274I	PLCB4_ENST00000278655.4_Missense_Mutation_p.M274I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M274I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M274I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M274I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M274I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	274					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCATTGAGATGTATGAACCTG	0.299																																					p.M274I		.											.	PLCB4-274	0			c.G822T						.						60	57	58					20																	9360778		2203	4297	6500	SO:0001583	missense	5332	exon11			TGAGATGTATGAA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.822G>T	20.37:g.9360778G>T	ENSP00000367754:p.Met274Ile	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	223	67	NM_182797	0	0	0	0	0	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140361	0.37825	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.41	4.35	0.52113	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.245662	0.47455	D	0.000232	T	0.16599	0.0399	N	0.03608	-0.345	0.27492	N	0.952246	B;B;B;B	0.11235	0.004;0.0;0.002;0.001	B;B;B;B	0.14023	0.003;0.004;0.01;0.002	T	0.03000	-1.1084	10	0.51188	T	0.08	.	1.9466	0.03358	0.1205:0.1663:0.4395:0.2737	.	274;121;274;274	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	274;274;274;274;274;110	ENSP00000334105:M274I;ENSP00000367734:M274I;ENSP00000278655:M274I;ENSP00000367754:M274I;ENSP00000367762:M274I;ENSP00000390616:M110I	ENSP00000278655:M274I	M	+	3	0	PLCB4	9308778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.424000	0.44714	2.696000	0.92011	0.650000	0.86243	ATG	.		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9360778	G	T	9360778	3	4	10	1	0	0	0	0	1	0	0	0	12069	1377	48	3	860	3	PLCB4	20	9360778	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6215225	9360778	53664742	421	2747											
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34063418	34063418	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctggagtcaagtcacctgGaaggggagttactgaggcaa	14	9	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:34063418G>T	ENST00000397527.1	+	15	2383	c.1663G>T	c.(1663-1665)Gaa>Taa	p.E555*	RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Nonsense_Mutation_p.E555*|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	555	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)			AAGTCACCTGGAAGGGGAGTT	0.567																																					p.E555X		.											.	CEP250-27	0			c.G1663T						.						155	141	146					20																	34063418		2203	4300	6503	SO:0001587	stop_gained	11190	exon15			CACCTGGAAGGGG	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.1663G>T	20.37:g.34063418G>T	ENSP00000380661:p.Glu555*	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	146	58	NM_007186	0	0	0	0	0	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.053224|6.053224	0.97241|0.97241	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	.|.	.|.	.|.	5.23|5.23	4.24|4.24	0.50183|0.50183	.|.	0.256331|.	0.27147|.	N|.	0.020716|.	.|T	.|0.62478	.|0.2431	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68292	.|-0.5447	.|3	0.62326|.	D|.	0.03|.	.|.	13.0575|13.0575	0.58988|0.58988	0.0:0.2532:0.7468:0.0|0.0:0.2532:0.7468:0.0	.|.	.|.	.|.	.|.	X|V	555;555;554|68	.|.	ENSP00000341541:E555X|.	E|G	+|+	1|2	0|0	CEP250|CEP250	33526832|33526832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.036000|3.036000	0.49767|0.49767	2.716000|2.716000	0.92895|0.92895	0.563000|0.563000	0.77884|0.77884	GAA|GGA	.		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34063418	G	T	34063418	4	4	10	1	0	0	0	0	0	1	0	0	3259	1175	41	3	1709	3	CEP250	20	34063418	Nonsense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	24702640	34063418	28962102	422	2748											
ACTR5	79913	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	37383613	37383613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagaattacacaaatgGcggtgtcctgattattatga	9	5	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:37383613G>T	ENST00000243903.4	+	4	826	c.789G>T	c.(787-789)tgG>tgT	p.W263C		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	263					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TACACAAATGGCGGTGTCCTG	0.413																																					p.W263C		.											.	ACTR5-90	0			c.G789T						.						60	65	63					20																	37383613		2203	4300	6503	SO:0001583	missense	79913	exon4			CAAATGGCGGTGT	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.789G>T	20.37:g.37383613G>T	ENSP00000243903:p.Trp263Cys	Somatic	213	1		WXS	Illumina GAIIx	Phase_I	193	60	NM_024855	0	0	1	5	4	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168818	0.78339	.	.	ENSG00000101442	ENST00000243903	T	0.07800	3.16	5.85	5.85	0.93711	.	0.053378	0.85682	D	0.000000	T	0.32763	0.0840	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00896	-1.1523	10	0.72032	D	0.01	-15.3214	20.153	0.98091	0.0:0.0:1.0:0.0	.	263	Q9H9F9	ARP5_HUMAN	C	263	ENSP00000243903:W263C	ENSP00000243903:W263C	W	+	3	0	ACTR5	36817027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.956000	0.93066	2.773000	0.95371	0.650000	0.86243	TGG	.		0.413	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37383613	G	T	37383613	3	4	10	1	0	0	0	0	1	0	0	0	215	1212	42	3	803	3	ACTR5	20	37383613	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3320195	37383613	25641907	423	2749											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348735	43348735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcaggacccggtggCcggggggccctgtgcctctg	19	15	1	0	rs2296530	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_003881	0	0	0	0	0	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	10	1	0	0	0	0	0	0	0	1	17422	726	26	3		3	WISP2	20	43348735	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	5965122	43348735	19676785	424	2750											
SEMG2	6407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43850726	43850726	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggggaatagcccatcTggaaagggattatccagtca	12	8	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:43850726T>A	ENST00000372769.3	+	2	543	c.453T>A	c.(451-453)tcT>tcA	p.S151S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	151	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATAGCCCATCTGGAAAGGGAT	0.403																																					p.S151S		.											.	SEMG2-91	0			c.T453A						.						100	89	93					20																	43850726		2203	4300	6503	SO:0001819	synonymous_variant	6407	exon2			CCCATCTGGAAAG		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.453T>A	20.37:g.43850726T>A		Somatic	238	0		WXS	Illumina GAIIx	Phase_I	264	104	NM_003008	0	0	0	0	0	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	CCDS13346.1																																																																																			.		0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		A	43850726	T	A	43850726	2	1	10	1	0	0	0	0	0	0	0	1	14090	1567	55	5		5	SEMG2	20	43850726	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	501991	43850726	19174794	425	2751											
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47630130	47630130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatacacaagtgatgacatGaatgtagctcctggtgacag	11	7	0	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:47630130G>A	ENST00000371917.4	+	29	3948	c.3948G>A	c.(3946-3948)atG>atA	p.M1316I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1316					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGATGACATGAATGTAGCTC	0.423																																					p.M1316I	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											.	ARFGEF2-358	0			c.G3948A						.						138	134	135					20																	47630130		2203	4300	6503	SO:0001583	missense	10564	exon29			TGACATGAATGTA	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.3948G>A	20.37:g.47630130G>A	ENSP00000360985:p.Met1316Ile	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	151	50	NM_006420	0	0	1	1	0	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037541	0.54896	.	.	ENSG00000124198	ENST00000371917	T	0.43688	0.94	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04413	-1.0953	10	0.37606	T	0.19	.	19.825	0.96614	0.0:0.0:1.0:0.0	.	1316	Q9Y6D5	BIG2_HUMAN	I	1316	ENSP00000360985:M1316I	ENSP00000360985:M1316I	M	+	3	0	ARFGEF2	47063537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.689000	0.91719	0.491000	0.48974	ATG	.		0.423	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47630130	G	A	47630130	3	1	10	1	0	0	0	0	1	0	0	0	853	1290	45	3	4062	3	ARFGEF2	20	47630130	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3779404	47630130	15395390	426	2752											
KCNB1	3745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47990374	47990374	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtcaatgaccccttctgtgcGagtgggcagaggggctacgg	16	10	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:47990374G>C	ENST00000371741.4	-	2	1889	c.1723C>G	c.(1723-1725)Cgc>Ggc	p.R575G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	575					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)	CCTTCTGTGCGAGTGGGCAGA	0.527																																					p.R575G		.											.	KCNB1-92	0			c.C1723G						.						84	75	78					20																	47990374		2203	4300	6503	SO:0001583	missense	3745	exon2			CTGTGCGAGTGGG	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.1723C>G	20.37:g.47990374G>C	ENSP00000360806:p.Arg575Gly	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	117	34	NM_004975	0	0	0	0	0	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721717	0.30503	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.24908	1.83	6.07	6.07	0.98685	.	0.882202	0.10201	N	0.703410	T	0.27967	0.0689	L	0.38531	1.155	0.48185	D	0.999604	B	0.12013	0.005	B	0.10450	0.005	T	0.10222	-1.0639	10	0.29301	T	0.29	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	575	Q14721	KCNB1_HUMAN	G	575;530	ENSP00000360806:R575G	ENSP00000360806:R575G	R	-	1	0	KCNB1	47423781	0.979000	0.34478	0.974000	0.42286	0.994000	0.84299	3.229000	0.51278	2.884000	0.98904	0.655000	0.94253	CGC	.		0.527	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		C	47990374	G	C	47990374	3	2	10	1	0	0	0	0	1	0	0	0	8039	1058	37	2	857	2	KCNB1	20	47990374	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	360244	47990374	15035146	427	2753											
TSHZ2	128553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	51872153	51872153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgcgctcaccttcctgctCcagcccaagttcaagcacaa	6	17	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:51872153C>A	ENST00000371497.5	+	2	3043	c.2156C>A	c.(2155-2157)tCc>tAc	p.S719Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S716Y|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S716Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	719					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)			CCTTCCTGCTCCAGCCCAAGT	0.582																																					p.S719Y		.											.	TSHZ2-232	0			c.C2156A						.						72	67	69					20																	51872153		2203	4300	6503	SO:0001583	missense	128553	exon2			CCTGCTCCAGCCC	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.2156C>A	20.37:g.51872153C>A	ENSP00000360552:p.Ser719Tyr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	163	55	NM_173485	0	0	0	0	0	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476520	0.44044	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38887	1.11;1.11	5.72	4.76	0.60689	.	0.629307	0.17442	N	0.174096	T	0.42653	0.1212	M	0.66939	2.045	0.51012	D	0.9999	P	0.39624	0.681	B	0.34536	0.185	T	0.49051	-0.8979	10	0.87932	D	0	-18.9423	14.839	0.70209	0.0:0.7286:0.2714:0.0	.	719	Q9NRE2	TSH2_HUMAN	Y	719;716;245	ENSP00000360552:S719Y;ENSP00000333114:S716Y	ENSP00000333114:S716Y	S	+	2	0	TSHZ2	51305560	0.922000	0.31269	0.987000	0.45799	0.998000	0.95712	3.338000	0.52128	1.382000	0.46385	0.643000	0.83706	TCC	.		0.582	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51872153	C	A	51872153	3	1	10	1	0	0	0	0	1	0	0	0	16672	855	30	3	2162	3	TSHZ2	20	51872153	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	3881779	51872153	11153367	428	2754											
MC3R	4159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	54824215	54824215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgtccacagcgactacCtgaccttcgaggaccagttt	8	15	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:54824215C>A	ENST00000243911.2	+	1	428	c.316C>A	c.(316-318)Ctg>Atg	p.L106M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	106					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CAGCGACTACCTGACCTTCGA	0.557																																					p.L106M		.											.	MC3R-660	0			c.C316A						.						137	102	114					20																	54824215		2203	4300	6503	SO:0001583	missense	4159	exon1			GACTACCTGACCT		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.316C>A	20.37:g.54824215C>A	ENSP00000243911:p.Leu106Met	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	492	178	NM_019888	0	0	0	0	0	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421452	0.42918	.	.	ENSG00000124089	ENST00000243911	T	0.22336	1.96	4.68	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.252732	0.26546	U	0.023774	T	0.39600	0.1084	M	0.77103	2.36	0.33041	D	0.531401	D	0.62365	0.991	D	0.64877	0.93	T	0.53472	-0.8434	10	0.72032	D	0.01	.	6.4254	0.21766	0.0:0.7002:0.0:0.2998	.	143	P41968	MC3R_HUMAN	M	106	ENSP00000243911:L106M	ENSP00000243911:L106M	L	+	1	2	MC3R	54257622	0.968000	0.33430	0.866000	0.34008	0.806000	0.45545	1.907000	0.39897	2.287000	0.76781	0.650000	0.86243	CTG	.		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824215	C	A	54824215	3	1	10	1	0	0	0	0	1	0	0	0	9403	680	24	3	318	3	MC3R	20	54824215	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2952062	54824215	8201305	429	2755											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57430199	57430199	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcgatctgagagtcccCagcccaaagcctcgcgctct	10	16	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:57430199C>T	ENST00000371100.4	+	1	2431	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q627*|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q627*|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.P563P|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	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)			TGAGAGTCCCCAGCCCAAAGC	0.627			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.Q627X	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	.	GNAS-4767	0			c.C1879T						.						24	28	27					20																	57430199		1973	4157	6130	SO:0001587	stop_gained	2778	exon1			AGTCCCCAGCCCA	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	ENST00000371100.4:c.1879C>T	20.37:g.57430199C>T	ENSP00000360141:p.Gln627*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	112	34	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.530685|3.530685	0.64860|0.64860	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371099;ENST00000371100;ENST00000371102	D|.	0.88896|.	-2.44|.	3.84|3.84	-2.13|-2.13	0.07144|0.07144	.|.	.|5.153130	.|0.00935	.|N	.|0.002768	T|.	0.51466|.	0.1676|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56111|.	-0.8033|.	6|.	0.49607|0.46703	T|T	0.09|0.11	.|.	15.318|15.318	0.74095|0.74095	0.0:0.2501:0.7499:0.0|0.0:0.2501:0.7499:0.0	.|.	.|.	.|.	.|.	L|X	13|627	ENSP00000412424:P13L|.	ENSP00000412424:P13L|ENSP00000360140:Q627X	P|Q	+|+	2|1	0|0	GNAS|GNAS	56863594|56863594	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.091000|0.091000	0.18340|0.18340	0.391000|0.391000	0.20784|0.20784	-0.446000|-0.446000	0.07149|0.07149	-0.502000|-0.502000	0.04539|0.04539	CCA|CAG	.		0.627	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		T	57430199	C	T	57430199	4	4	10	1	0	0	0	0	0	1	0	0	6536	595	21	3	2623	3	GNAS	20	57430199	Nonsense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2605984	57430199	5595321	430	2756											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57768876	57768876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctctgccctggcagaTaatgccttttcccccaagta	8	14	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:57768876T>A	ENST00000371030.2	+	1	2802	c.2802T>A	c.(2800-2802)gaT>gaA	p.D934E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	934							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)					CCCTGGCAGATAATGCCTTTT	0.627																																					p.D934E		.											.	ZNF831-126	0			c.T2802A						.						66	66	66					20																	57768876		1973	4159	6132	SO:0001583	missense	128611	exon1			GGCAGATAATGCC	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.2802T>A	20.37:g.57768876T>A	ENSP00000360069:p.Asp934Glu	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	60	20	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606804	0.66558	.	.	ENSG00000124203	ENST00000371030	T	0.05580	3.42	4.75	0.102	0.14522	.	0.377447	0.22945	N	0.053737	T	0.03178	0.0093	L	0.32530	0.975	0.09310	N	1	P	0.39480	0.675	B	0.33960	0.173	T	0.38329	-0.9666	10	0.25751	T	0.34	-10.7006	1.1966	0.01876	0.1511:0.3554:0.1318:0.3617	.	934	Q5JPB2	ZN831_HUMAN	E	934	ENSP00000360069:D934E	ENSP00000360069:D934E	D	+	3	2	ZNF831	57202271	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	-2.207000	0.01230	-0.069000	0.12931	-0.119000	0.15052	GAT	.		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57768876	T	A	57768876	3	1	10	1	0	0	0	0	1	0	0	0	18233	1403	49	5	2804	5	ZNF831	20	57768876	Missense_Mutation	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	338677	57768876	5256644	431	2757											
PRIC285	85441	hgsc.bcm.edu	37	chr20	62194713	62194713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggccgtctccacggccAgggtgtgtgggtccggcaca	16	13	1	0	rs3810486	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:62194713A>C	ENST00000467148.1	-	8	5531	c.5462T>G	c.(5461-5463)cTg>cGg	p.L1821R	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1252R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1821			L -> R (in dbSNP:rs3810486).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCACGGCCAGGGTGTGTGG	0.726													C|||	1226	0.244808	0.0575	0.1023	5008	,	,		15371	0.5923		0.1948	False		,,,				2504	0.2924				p.L1821R		.											.	.	0			c.T5462G						.	C	ARG/LEU,ARG/LEU	196,3498		4,188,1655	3	3	3		5462,3755	-2.5	0	20	dbSNP_107	3	895,6669		51,793,2938	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	102,102	55,981,4593	CC,CA,AA		11.8324,5.3059,9.6909	benign,benign	1821/2650,1252/2081	62194713	1091,10167	1847	3782	5629	SO:0001583	missense	85441	exon9			ACGGCCAGGGTGT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5462T>G	20.37:g.62194713A>C	ENSP00000417401:p.Leu1821Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	16	10	NM_001037335	0	0	2	2	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	575	0.2632783882783883	23	0.046747967479674794	44	0.12154696132596685	352	0.6153846153846154	156	0.20580474934036938	C	7.173	0.588046	0.13812	0.053059	0.118324	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79033	-1.23;-1.15	4.54	-2.49	0.06403	.	2.710140	0.01204	N	0.007649	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	9	0.18710	T	0.47	0.0741	1.1162	0.01714	0.3228:0.32:0.1009:0.2562	rs3810486	1821;1252	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	1252;1821	ENSP00000393257:L1252R;ENSP00000417401:L1821R	ENSP00000393257:L1252R	L	-	2	0	RP4-697K14.7	61665157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.351000	0.08249	-0.323000	0.08544	CTG	A|0.739;C|0.261		0.726	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62194713	A	C	62194713	3	2	10	1	0	0	0	0	1	0	0	0	12527	188	7	5	2535	5	PRIC285	20	62194713	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	4425837	62194713	830807	432	2758											
GRIK1	2897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	30959761	30959761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaaatatctggagacaggGggttgaggaaggagaaaacg	15	5	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:30959761G>T	ENST00000399907.1	-	12	2129	c.1718C>A	c.(1717-1719)cCc>cAc	p.P573H	GRIK1_ENST00000535441.1_Missense_Mutation_p.P575H|GRIK1_ENST00000389125.3_Missense_Mutation_p.P558H|GRIK1_ENST00000399913.1_Missense_Mutation_p.P573H|GRIK1_ENST00000327783.4_Missense_Mutation_p.P573H|GRIK1_ENST00000389124.2_Missense_Mutation_p.P573H|GRIK1_ENST00000309434.7_Missense_Mutation_p.P575H|GRIK1_ENST00000399914.1_Missense_Mutation_p.P558H|GRIK1_ENST00000399909.1_Missense_Mutation_p.P558H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	573					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGGAGACAGGGGGTTGAGGAA	0.463																																					p.P573H		.											.	GRIK1-137	0			c.C1718A						.						91	77	82					21																	30959761		2203	4300	6503	SO:0001583	missense	2897	exon12			GACAGGGGGTTGA		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1718C>A	21.37:g.30959761G>T	ENSP00000382791:p.Pro573His	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	221	72	NM_000830	0	0	0	0	0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689199	0.88735	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.09	5.09	0.68999	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.94658	3.565	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	0.99391	1.0925	10	0.87932	D	0	.	18.6351	0.91374	0.0:0.0:1.0:0.0	.	558;573;558;573;558	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	H	573;558;573;558;575;434;573;573;558;575	ENSP00000327687:P573H;ENSP00000373777:P558H;ENSP00000382797:P573H;ENSP00000382798:P558H;ENSP00000446326:P575H;ENSP00000373776:P573H;ENSP00000382791:P573H;ENSP00000382793:P558H;ENSP00000311646:P575H	ENSP00000311646:P575H	P	-	2	0	GRIK1	29881632	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.593000	0.98250	2.795000	0.96236	0.655000	0.94253	CCC	.		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	30959761	G	T	30959761	3	4	10	1	0	0	0	0	1	0	0	0	6800	1232	43	3	1222	3	GRIK1	21	30959761	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10		30959761	17170134	433	2759											
KRTAP24-1	643803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	31654682	31654682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttggaaatataacataatGgtgagacgtagctgggtatg	13	3	0	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:31654682G>T	ENST00000340345.4	-	1	594	c.569C>A	c.(568-570)cCa>cAa	p.P190Q		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	190						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAACATAATGGTGAGACGTA	0.423																																					p.P190Q		.											.	KRTAP24-1-68	0			c.C569A						.						124	120	122					21																	31654682		1868	4103	5971	SO:0001583	missense	643803	exon1			CATAATGGTGAGA	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.569C>A	21.37:g.31654682G>T	ENSP00000339238:p.Pro190Gln	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	143	60	NM_001085455	0	0	0	0	0	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156283	0.38021	.	.	ENSG00000188694	ENST00000340345	T	0.02863	4.13	4.93	4.93	0.64822	.	0.238346	0.33309	N	0.005053	T	0.11580	0.0282	L	0.57536	1.79	0.18873	N	0.999987	D	0.63046	0.992	D	0.69479	0.964	T	0.00978	-1.1493	10	0.72032	D	0.01	-0.7117	14.3377	0.66603	0.0:0.0:1.0:0.0	.	190	Q3LI83	KR241_HUMAN	Q	190	ENSP00000339238:P190Q	ENSP00000339238:P190Q	P	-	2	0	KRTAP24-1	30576553	0.900000	0.30661	0.269000	0.24586	0.145000	0.21501	3.990000	0.56965	2.653000	0.90120	0.563000	0.77884	CCA	.		0.423	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		T	31654682	G	T	31654682	3	4	10	1	0	0	0	0	1	0	0	0	8570	1348	47	3	199	3	KRTAP24-1	21	31654682	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	694921	31654682	16475213	434	2760											
ERG	2078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	39817408	39817408	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagacagccaatcctgctgaGggacgcgtgggctcatcttg	14	11	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:39817408G>C	ENST00000417133.2	-	4	361	c.176C>G	c.(175-177)cCt>cGt	p.P59R	ERG_ENST00000398911.1_Missense_Mutation_p.P59R|ERG_ENST00000453032.2_Intron|ERG_ENST00000398910.1_Missense_Mutation_p.P59R|ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.P59R|ERG_ENST00000429727.2_Missense_Mutation_p.P52R|ERG_ENST00000398907.1_Missense_Mutation_p.P52R|ERG_ENST00000288319.7_Missense_Mutation_p.P52R|ERG_ENST00000398905.1_Missense_Mutation_p.P52R|ERG_ENST00000442448.1_Missense_Mutation_p.P59R	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATCCTGCTGAGGGACGCGTGG	0.567			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																p.P59R	Esophageal Squamous(130;336 1700 3010 3083 40589)	.		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	.	ERG-848	0			c.C176G						.						107	86	93					21																	39817408		2203	4300	6503	SO:0001583	missense	2078	exon4			TGCTGAGGGACGC		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.176C>G	21.37:g.39817408G>C	ENSP00000414150:p.Pro59Arg	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	342	120	NM_004449	0	0	2	2	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025837	0.75390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.17213	2.35;2.35;2.31;2.34;2.29;2.37;2.34;2.29	5.77	5.77	0.91146	.	0.175061	0.49916	D	0.000124	T	0.39358	0.1075	L	0.52573	1.65	0.80722	D	1	D;P;D;P;P	0.89917	1.0;0.955;0.983;0.907;0.688	D;P;D;P;B	0.91635	0.999;0.707;0.949;0.662;0.165	T	0.01420	-1.1359	10	0.42905	T	0.14	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	52;59;59;59;52	B4E3C5;P11308;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	R	52;52;52;59;59;59;59;59;52	ENSP00000381877:P52R;ENSP00000381879:P52R;ENSP00000288319:P52R;ENSP00000381882:P59R;ENSP00000414150:P59R;ENSP00000381881:P59R;ENSP00000394694:P59R;ENSP00000381891:P59R	ENSP00000288319:P52R	P	-	2	0	ERG	38739278	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.476000	0.97823	2.715000	0.92844	0.655000	0.94253	CCT	.		0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		C	39817408	G	C	39817408	3	2	10	1	0	0	0	0	1	0	0	0	5238	1000	35	3	1320	3	ERG	21	39817408	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	8162726	39817408	8312487	435	2761											
DNMT3L	29947	broad.mit.edu;bcgsc.ca	37	chr21	45676028	45676028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggtttcgaacatctcaaGgggattctcctatttattaa	7	9	2	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:45676028G>T	ENST00000418993.1	-	7	1009	c.526C>A	c.(526-528)Ctt>Att	p.L176I	DNMT3L_ENST00000270172.3_Missense_Mutation_p.L176I	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	176					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACATCTCAAGGGGATTCTCC	0.463																																					p.L176I		.											.	DNMT3L-228	0			c.C526A						.						89	90	90					21																	45676028		2203	4300	6503	SO:0001583	missense	29947	exon7			TCTCAAGGGGATT	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.526C>A	21.37:g.45676028G>T	ENSP00000412862:p.Leu176Ile	Somatic	284	2		WXS	Illumina GAIIx	Phase_I	261	29	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233873	0.01505	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.77750	-1.12;-1.12;-1.12	3.44	-1.41	0.08941	.	0.454365	0.21106	N	0.080061	T	0.62109	0.2401	L	0.54323	1.7	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.26614	0.071;0.071	T	0.44922	-0.9296	10	0.22706	T	0.39	-3.0001	0.5319	0.00630	0.2778:0.1845:0.35:0.1876	.	176;176	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	I	176;176;161	ENSP00000270172:L176I;ENSP00000412862:L176I;ENSP00000400242:L161I	ENSP00000270172:L176I	L	-	1	0	DNMT3L	44500456	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.285000	0.18883	-0.394000	0.07727	0.462000	0.41574	CTT	.		0.463	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		T	45676028	G	T	45676028	3	4	10	1	0	0	0	0	1	0	0	0	4692	1000	35	3	661	3	DNMT3L	21	45676028	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5858620	45676028	2453867	436	2762											
KRTAP10-8	386681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	46032129	46032129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccagcacctgcactGgctcctcctggcaggtggac	10	19	0	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:46032129G>A	ENST00000334662.2	+	1	134	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CACCTGCACTGGCTCCTCCTG	0.637																																					p.G38S		.											.	KRTAP10-8-153	0			c.G112A						.						89	79	83					21																	46032129		2203	4300	6503	SO:0001583	missense	386681	exon1			TGCACTGGCTCCT	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.112G>A	21.37:g.46032129G>A	ENSP00000335565:p.Gly38Ser	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	140	48	NM_198695	0	0	0	0	0	A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.455531	0.00173	.	.	ENSG00000187766	ENST00000334662	T	0.06218	3.33	3.35	-2.62	0.06152	.	.	.	.	.	T	0.02156	0.0067	N	0.05441	-0.05	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.43669	-0.9377	9	0.02654	T	1	.	3.6437	0.08177	0.4494:0.0:0.3782:0.1724	.	38	P60410	KR108_HUMAN	S	38	ENSP00000335565:G38S	ENSP00000335565:G38S	G	+	1	0	KRTAP10-8	44856557	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.337000	0.07852	-1.116000	0.02969	-0.444000	0.05651	GGC	.		0.637	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		A	46032129	G	A	46032129	3	1	10	1	0	0	0	0	1	0	0	0	8542	1348	47	3	114	3	KRTAP10-8	21	46032129	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	356101	46032129	2097766	437	2763											
TBX1	6899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	19752531	19752531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcttccacgtggtctaTgtggacccacgcaaagatag	10	14	1	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:19752531T>C	ENST00000329705.7	+	6	864	c.735T>C	c.(733-735)taT>taC	p.Y245Y	TBX1_ENST00000332710.4_Silent_p.Y245Y|TBX1_ENST00000359500.3_Silent_p.Y245Y	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	245					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)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ACGTGGTCTATGTGGACCCAC	0.537																																					p.Y245Y		.											.	TBX1-154	0			c.T735C						.						99	95	96					22																	19752531		2203	4300	6503	SO:0001819	synonymous_variant	6899	exon6			GGTCTATGTGGAC	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.735T>C	22.37:g.19752531T>C		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	147	97	NM_080647	0	0	0	1	1	C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	CCDS13766.1																																																																																			.		0.537	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		C	19752531	T	C	19752531	2	2	10	1	0	0	0	0	0	0	0	1	15697	1471	51	4		4	TBX1	22	19752531	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10		19752531	31552035	438	2764											
SGSM1	129049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	25240890	25240890	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatcatggaggaggctgtGacacgcaagtttgtccacga	13	9	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:25240890G>A	ENST00000400359.4	+	3	97	c.90G>A	c.(88-90)gtG>gtA	p.V30V	SGSM1_ENST00000400358.4_Silent_p.V30V	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	30						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGAGGCTGTGACACGCAAGT	0.562																																					p.V30V		.											.	SGSM1-27	0			c.G90A						.						97	104	102					22																	25240890		2190	4299	6489	SO:0001819	synonymous_variant	129049	exon3			GGCTGTGACACGC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.90G>A	22.37:g.25240890G>A		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	145	102	NM_001098497	0	0	0	0	0	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																			.		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		A	25240890	G	A	25240890	2	1	10	1	0	0	0	0	0	0	0	1	14267	1277	45	3		3	SGSM1	22	25240890	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	5488359	25240890	26063676	439	2765											
SEZ6L	23544	hgsc.bcm.edu	37	chr22	26689105	26689105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcatcaccaccgagcaGgcaccaggtatgcagccccc	10	17	2	0	rs17395296	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:26689105G>A	ENST00000248933.6	+	2	923	c.828G>A	c.(826-828)caG>caA	p.Q276Q	SEZ6L_ENST00000343706.4_Silent_p.Q276Q|SEZ6L_ENST00000360929.3_Silent_p.Q276Q|SEZ6L_ENST00000403121.1_Silent_p.Q49Q|SEZ6L_ENST00000402979.1_Silent_p.Q49Q|SEZ6L_ENST00000404234.3_Silent_p.Q276Q|SEZ6L_ENST00000529632.2_Silent_p.Q276Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	276					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ccaccGAGCAGGCACCAGGTA	0.557													G|||	264	0.0527157	0.0076	0.0576	5008	,	,		16971	0		0.1352	False		,,,				2504	0.0798				p.Q276Q		.											.	SEZ6L-95	0			c.G828A						.	G	,,,,,	88,4280		1,86,2097	56	37	44		828,828,828,828,828,828	5	1	22	dbSNP_123	44	1003,7573		54,895,3339	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	55,981,5436	AA,AG,GG		11.6954,2.0147,8.4286	,,,,,	276/1024,276/1014,276/1012,276/950,276/949,276/1025	26689105	1091,11853	2184	4288	6472	SO:0001819	synonymous_variant	23544	exon2			CGAGCAGGCACCA	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.828G>A	22.37:g.26689105G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_021115	0	0	0	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																			G|0.931;A|0.069		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26689105	G	A	26689105	2	1	10	1	0	0	0	0	0	0	0	1	14188	991	35	3		3	SEZ6L	22	26689105	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	1448215	26689105	24615461	440	2766											
SFI1	9814	hgsc.bcm.edu;bcgsc.ca	37	chr22	31904328	31904328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatttccatcaaaaagtgAttaagcagagaatggagaag	9	5	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:31904328A>G	ENST00000400288.2	+	2	163	c.58A>G	c.(58-60)Att>Gtt	p.I20V	SFI1_ENST00000400289.1_Missense_Mutation_p.I20V|SFI1_ENST00000432498.1_Missense_Mutation_p.I20V|SFI1_ENST00000540643.1_Missense_Mutation_p.I20V|SFI1_ENST00000443326.1_Missense_Mutation_p.I20V|SFI1_ENST00000414585.1_Missense_Mutation_p.I20V|SFI1_ENST00000443011.1_Missense_Mutation_p.I20V	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	20					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCAAAAAGTGATTAAGCAGAG	0.343																																					p.I20V		.											.	SFI1-90	0			c.A58G						.						94	87	89					22																	31904328		1851	4107	5958	SO:0001583	missense	9814	exon2			AAAGTGATTAAGC	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.58A>G	22.37:g.31904328A>G	ENSP00000383145:p.Ile20Val	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	48	4	NM_001258327	0	0	0	0	0	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166598	0.21621	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000444859;ENST00000400288	T;T;T;T;T;T;T;T	0.36699	2.99;2.73;2.44;2.28;2.35;2.44;1.24;3.04	3.93	0.585	0.17428	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B;B;B;B;B;P	0.36171	0.314;0.005;0.002;0.002;0.002;0.541	B;B;B;B;B;B	0.40534	0.092;0.002;0.005;0.005;0.005;0.332	T	0.15407	-1.0438	9	0.39692	T	0.17	.	3.1943	0.06628	0.5524:0.2171:0.2305:0.0	.	20;20;20;20;20;20	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	V	20	ENSP00000402679:I20V;ENSP00000443025:I20V;ENSP00000416469:I20V;ENSP00000397148:I20V;ENSP00000401199:I20V;ENSP00000383146:I20V;ENSP00000411793:I20V;ENSP00000383145:I20V	ENSP00000383145:I20V	I	+	1	0	SFI1	30234328	0.024000	0.19004	0.001000	0.08648	0.924000	0.55760	0.051000	0.14141	0.043000	0.15746	0.528000	0.53228	ATT	.		0.343	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		G	31904328	A	G	31904328	3	3	10	1	0	0	0	0	1	0	0	0	14201	333	12	4	60	4	SFI1	22	31904328	Missense_Mutation	SNP	A	TCGA-OR-A5JB-01A-11D-A29I-10	5215223	31904328	19400238	441	2767											
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	38323452	38323452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctctcgcactcggagccGccctcggccacaccatcgcc	9	22	1	0	rs201808090		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:38323452G>A	ENST00000215957.6	+	9	1626	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	500	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)					ACTCGGAGCCGCCCTCGGCCA	0.687													G|||	1	0.000199681	0	0	5008	,	,		15497	0.001		0	False		,,,				2504	0				p.P500P		.											.	MICALL1-153	0			c.G1500A						.						27	26	26					22																	38323452		2203	4300	6503	SO:0001819	synonymous_variant	85377	exon9			GGAGCCGCCCTCG	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.1500G>A	22.37:g.38323452G>A		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	44	29	NM_033386	0	0	0	5	5	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257948	0.22965	.	.	ENSG00000100139	ENST00000454685	.	.	.	4.92	-9.83	0.00482	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	.	1.1106	0.01704	0.2932:0.1484:0.3289:0.2296	.	.	.	.	T	78	.	.	A	+	1	0	MICALL1	36653398	0.005000	0.15991	0.834000	0.33040	0.909000	0.53808	-1.855000	0.01663	-1.772000	0.01292	-0.477000	0.04895	GCC	.		0.687	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		A	38323452	G	A	38323452	2	1	10	1	0	0	0	0	0	0	0	1	9611	1074	38	1		1	MICALL1	22	38323452	Silent	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	6419124	38323452	12981114	442	2768											
SOX10	6663	broad.mit.edu;bcgsc.ca	37	chr22	38379397	38379397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtcttgctgagctcaGcgttgtgcaggtgcgggtac	15	11	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:38379397G>A	ENST00000396884.2	-	2	677	c.395C>T	c.(394-396)gCt>gTt	p.A132V	SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.A132V|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	132					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCTGAGCTCAGCGTTGTGCAG	0.667																																					p.A132V	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	.											.	SOX10-650	0			c.C395T						.						33	27	29					22																	38379397		2203	4300	6503	SO:0001583	missense	6663	exon2			AGCTCAGCGTTGT		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.395C>T	22.37:g.38379397G>A	ENSP00000380093:p.Ala132Val	Somatic	60	2		WXS	Illumina GAIIx	Phase_I	346	249	NM_006941	0	0	0	0	0	B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200404	0.94997	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	D;D;D	0.98234	-4.81;-4.81;-4.81	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99827	1.1051	10	0.87932	D	0	.	17.1362	0.86740	0.0:0.0:1.0:0.0	.	132	P56693	SOX10_HUMAN	V	132	ENSP00000380093:A132V;ENSP00000354130:A132V;ENSP00000414853:A132V	ENSP00000354130:A132V	A	-	2	0	SOX10	36709343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.424000	0.97464	2.265000	0.75225	0.462000	0.41574	GCT	.		0.667	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		A	38379397	G	A	38379397	3	1	10	1	0	0	0	0	1	0	0	0	14986	971	34	3	1017	3	SOX10	22	38379397	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	55945	38379397	12925169	443	2769											
EP300	2033	bcgsc.ca	37	chr22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttctggcccaatgttctgGaagaaagcattaaggaactg	10	7	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	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	1514	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						CAATGTTCTGGAAGAAAGCAT	0.398			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.E1514K		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300-2011	0			c.G4540A						.						106	105	105					22																	41568590		2203	4300	6503	SO:0001583	missense	2033	exon28	Familial Cancer Database	Broad Thumb-Hallux syndrome	GTTCTGGAAGAAA	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.4540G>A	22.37:g.41568590G>A	ENSP00000263253:p.Glu1514Lys	Somatic	175	4		WXS	Illumina GAIIx	Phase_I	165	116	NM_001429	0	0	0	8	8	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231000	0.95207	.	.	ENSG00000100393	ENST00000263253	D	0.94417	-3.42	5.96	5.96	0.96718	.	0.000000	0.49305	D	0.000149	D	0.97945	0.9324	M	0.89785	3.06	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.98128	1.0429	10	0.87932	D	0	-12.635	20.422	0.99049	0.0:0.0:1.0:0.0	.	1514	Q09472	EP300_HUMAN	K	1514	ENSP00000263253:E1514K	ENSP00000263253:E1514K	E	+	1	0	EP300	39898536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.832000	0.97577	0.655000	0.94253	GAA	.		0.398	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41568590	G	A	41568590	3	1	10	1	0	0	0	0	1	0	0	0	5164	1175	41	3	4650	3	EP300	22	41568590	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	3189193	41568590	9735976	444	2770											
SBF1	6305	ucsc.edu;bcgsc.ca	37	chr22	50901135	50901135	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaaactgcgtcaccccCgggctcagcttctgcaggag	11	14	3	0	rs143643893	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:50901135C>A	ENST00000390679.3	-	18	2164	c.1980G>T	c.(1978-1980)ccG>ccT	p.P660P	SBF1_ENST00000348911.6_Silent_p.P661P|SBF1_ENST00000380817.3_Silent_p.P660P			O95248	MTMR5_HUMAN	SET binding factor 1	660					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCACCCCCGGGCTCAGCT	0.632																																					p.P660P		.											.	SBF1-90	0			c.G1980T						.						17	20	19					22																	50901135		2053	4185	6238	SO:0001819	synonymous_variant	6305	exon18			CACCCCCGGGCTC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1980G>T	22.37:g.50901135C>A		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	195	141	NM_002972	0	0	0	0	0	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37																																																																																				C|0.994;T|0.006		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50901135	C	A	50901135	2	1	10	1	0	0	0	0	0	0	0	1	13903	639	23	2		2	SBF1	22	50901135	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	9332545	50901135	403431	445	2771											
PPP2R3B	28227	ucsc.edu;bcgsc.ca	37	chrX	299594	299594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgaagaagacgttagcCagcttgcagcgcttcaggtc	13	10	1	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:299594C>T	ENST00000390665.3	-	11	1407	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	463					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACGTTAGCCAGCTTGCAGC	0.627																																					p.L463L		.											.	PPP2R3B-136	0			c.G1389A						.						207	198	201					X																	299594		2199	4289	6488	SO:0001819	synonymous_variant	28227	exon11			GTTAGCCAGCTTG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1389G>A	X.37:g.299594C>T		Somatic	341	2		WXS	Illumina GAIIx	Phase_I	401	228	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			.		0.627	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		T	299594	C	T	299594	2	4	10	1	0	0	0	0	0	0	0	1	12431	581	21	3		3	PPP2R3B	23	299594	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10		299594	154970966	446	2772											
ARSH	347527	bcgsc.ca	37	chrX	2945477	2945477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatggacatctatccgaCgctgtcttatataggcggag	10	9	2	0	rs61751925	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:2945477C>T	ENST00000381130.2	+	7	1160	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	387					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)				ATCTATCCGACGCTGTCTTAT	0.493													C|||	143	0.0378808	8e-04	0.036	3775	,	,		13676	0.0089		0.0706	False		,,,				2504	0.0378				p.T387M		.											.	ARSH-130	0			c.C1160T						.	C	MET/THR	64,3771		0,51,13,1581,558	151	119	130		1160	3.4	0	X	dbSNP_129	130	650,6078		24,436,166,1968,1706	yes	missense	ARSH	NM_001011719.1	81	24,487,179,3549,2264	TT,TC,T,CC,C		9.6611,1.6688,6.7594	probably-damaging	387/563	2945477	714,9849	2203	4300	6503	SO:0001583	missense	347527	exon7			ATCCGACGCTGTC	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.1160C>T	X.37:g.2945477C>T	ENSP00000370522:p.Thr387Met	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	123	5	NM_001011719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	82	0.04942736588306208	2	0.0040650406504065045	14	0.03977272727272727	3	0.005263157894736842	40	0.055248618784530384	C	11.44	1.639794	0.29157	0.016688	0.096611	ENSG00000205667	ENST00000381130	D	0.99150	-5.49	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.90335	0.6976	H	0.99464	4.58	0.27978	P	0.9361375	D	0.89917	1.0	D	0.91635	0.999	T	0.68221	-0.5466	9	0.87932	D	0	.	14.2922	0.66286	0.0:1.0:0.0:0.0	rs61751925	387	Q5FYA8	ARSH_HUMAN	M	387	ENSP00000370522:T387M	ENSP00000370522:T387M	T	+	2	0	ARSH	2955477	0.999000	0.42202	0.004000	0.12327	0.010000	0.07245	4.677000	0.61634	1.328000	0.45358	0.596000	0.82720	ACG	C|0.940;T|0.060		0.493	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		T	2945477	C	T	2945477	3	4	10	1	0	0	0	0	1	0	0	0	994	536	19	1	1186	1	ARSH	23	2945477	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	2645883	2945477	152325083	447	2773											
FRMPD4	9758	broad.mit.edu	37	chrX	12734328	12734328	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagacggtggagatcacaGacagcaccatgtgtccaaaa	11	9	1	4			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:12734328G>A	ENST00000380682.1	+	15	2256	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	584					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGAGATCACAGACAGCACCAT	0.498																																					p.D584N		.											.	FRMPD4-263	0			c.G1750A						.						126	112	117					X																	12734328		2203	4300	6503	SO:0001583	missense	9758	exon15			ATCACAGACAGCA	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1750G>A	X.37:g.12734328G>A	ENSP00000370057:p.Asp584Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732789	0.48939	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.25579	1.79	5.47	5.47	0.80525	.	0.450148	0.25450	N	0.030597	T	0.29850	0.0746	L	0.57536	1.79	0.31061	N	0.714081	B;B	0.13594	0.008;0.003	B;B	0.09377	0.004;0.002	T	0.14282	-1.0478	10	0.33141	T	0.24	.	18.4325	0.90632	0.0:0.0:1.0:0.0	.	576;584	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	584;575;573	ENSP00000370057:D584N	ENSP00000304583:D573N	D	+	1	0	FRMPD4	12644249	1.000000	0.71417	0.204000	0.23530	0.804000	0.45430	5.745000	0.68672	2.294000	0.77228	0.529000	0.55759	GAC	.		0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12734328	G	A	12734328	3	1	10	1	0	0	0	0	1	0	0	0	6083	942	33	3	1808	3	FRMPD4	23	12734328	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	9788851	12734328	142536232	448	2774											
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49083514	49083514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtagccccgcaggtcttcCtccatctgctgcttctcccg	9	17	3	0			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:49083514C>A	ENST00000376265.2	-	9	1255	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E333D|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E398D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	398	Binding to the beta subunit. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGGTCTTCCTCCATCTGCT	0.587																																					p.E398D		.											.	CACNA1F-176	0			c.G1194T						.						58	40	46					X																	49083514		2203	4300	6503	SO:0001583	missense	778	exon9			GTCTTCCTCCATC	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.1194G>T	X.37:g.49083514C>A	ENSP00000365441:p.Glu398Asp	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	67	45	NM_001256789	0	0	0	0	0	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002365	0.35320	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.95482	-3.72;-3.72;-3.72	4.9	1.58	0.23477	.	0.321805	0.33199	N	0.005165	D	0.93612	0.7960	L	0.48218	1.51	0.37015	D	0.895907	D;P	0.54601	0.967;0.945	P;P	0.52066	0.689;0.492	D	0.90952	0.4806	10	0.35671	T	0.21	.	8.0444	0.30540	0.0:0.4531:0.0:0.5469	.	398;398	F5CIQ9;O60840	.;CAC1F_HUMAN	D	333;398;398	ENSP00000365427:E333D;ENSP00000321618:E398D;ENSP00000365441:E398D	ENSP00000321618:E398D	E	-	3	2	CACNA1F	48970458	0.998000	0.40836	0.997000	0.53966	0.697000	0.40408	0.719000	0.25881	0.179000	0.19938	0.279000	0.19357	GAG	.		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49083514	C	A	49083514	3	1	10	1	0	0	0	0	1	0	0	0	2550	680	24	3	4899	3	CACNA1F	23	49083514	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	36349186	49083514	106187046	449	2775											
KIAA2022	340533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	73962657	73962657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagggtgccagcttggCatatttgttgagctgattct	11	7	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:73962657C>A	ENST00000055682.6	-	3	2346	c.1735G>T	c.(1735-1737)Gcc>Tcc	p.A579S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	579					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCAGCTTGGCATATTTGTTG	0.443																																					p.A579S		.											.	KIAA2022-183	0			c.G1735T						.						121	100	107					X																	73962657		2203	4300	6503	SO:0001583	missense	340533	exon3			GCTTGGCATATTT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1735G>T	X.37:g.73962657C>A	ENSP00000055682:p.Ala579Ser	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	49	39	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116278	0.06881	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29917	1.55;1.55	5.97	-0.434	0.12283	.	0.357745	0.30227	N	0.010107	T	0.15998	0.0385	N	0.22421	0.69	0.27791	N	0.942825	B	0.06786	0.001	B	0.06405	0.002	T	0.24261	-1.0165	10	0.19590	T	0.45	-0.249	8.2198	0.31534	0.557:0.2977:0.088:0.0572	.	579	Q5QGS0	K2022_HUMAN	S	579	ENSP00000362567:A579S;ENSP00000055682:A579S	ENSP00000055682:A579S	A	-	1	0	KIAA2022	73879382	0.996000	0.38824	0.702000	0.30337	0.793000	0.44817	1.088000	0.30877	-0.618000	0.05656	-0.205000	0.12727	GCC	.		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73962657	C	A	73962657	3	1	10	1	0	0	0	0	1	0	0	0	8296	710	25	3	2823	3	KIAA2022	23	73962657	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	24879143	73962657	81307903	450	2776											
CYLC1	1538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	83124906	83124906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagaacatatgataattcCattccaagtaagaatttagt	5	6	1	3			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:83124906C>T	ENST00000329312.4	+	2	88	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	17					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGATAATTCCATTCCAAGTA	0.224																																					p.S17S		.											.	CYLC1-112	0			c.C51T						.						9	9	9					X																	83124906		1935	3914	5849	SO:0001819	synonymous_variant	1538	exon2			TAATTCCATTCCA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.51C>T	X.37:g.83124906C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	67	37	NM_021118	0	0	0	0	0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																			.		0.224	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		T	83124906	C	T	83124906	2	4	10	1	0	0	0	0	0	0	0	1	4150	581	21	3		3	CYLC1	23	83124906	Silent	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	9162249	83124906	72145654	451	2777											
CSTF2	1478	broad.mit.edu	37	chrX	100075447	100075447	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccagcggtggatcgttcTctacgttctgtgttcggtga	13	10	2	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:100075447T>G	ENST00000372972.2	+	1	58	c.42T>G	c.(40-42)tcT>tcG	p.S14S	CSTF2_ENST00000415585.2_Silent_p.S14S|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	14					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGGATCGTTCTCTACGTTCTG	0.572																																					p.S14S		.											.	CSTF2-131	0			c.T42G						.						164	117	133					X																	100075447		2203	4300	6503	SO:0001819	synonymous_variant	1478	exon1			TCGTTCTCTACGT	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.42T>G	X.37:g.100075447T>G		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	182	4	NM_001325	0	0	7	7	0	Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	CCDS14473.1																																																																																			.		0.572	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		G	100075447	T	G	100075447	2	3	10	1	0	0	0	0	0	0	0	1	3993	1538	54	5		5	CSTF2	23	100075447	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	16950541	100075447	55195113	452	2778											
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118774715	118774715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttgttgcctatcttcagttCttctgtgctgccaatgacag	8	11	4	1			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:118774715C>G	ENST00000343984.5	-	6	991	c.727G>C	c.(727-729)Gaa>Caa	p.E243Q	SEPT6_ENST00000394616.4_Missense_Mutation_p.E185Q|SEPT6_ENST00000394610.1_Missense_Mutation_p.E243Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.E243Q|SEPT6_ENST00000354228.4_Missense_Mutation_p.E243Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.E243Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.E243Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.E273Q	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	243	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATCTTCAGTTCTTCTGTGCTG	0.552			T	MLL	AML																																p.E243Q		.		Dom	yes		X	Xq24	23157	septin 6		L	.	SEPT6-969	0			c.G727C						.						186	127	147					X																	118774715		2203	4300	6503	SO:0001583	missense	23157	exon6			TCAGTTCTTCTGT	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.727G>C	X.37:g.118774715C>G	ENSP00000341524:p.Glu243Gln	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	79	61	NM_145802	0	0	3	6	3	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990150	0.93106	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.52526	1.38;1.38;1.38;1.38;1.38;1.38;0.66;1.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.81341	2.54	0.80722	D	1	D;P;D;D	0.76494	0.999;0.956;0.999;0.99	D;P;D;D	0.91635	0.998;0.906;0.999;0.936	T	0.74515	-0.3640	10	0.56958	D	0.05	.	17.527	0.87803	0.0:1.0:0.0:0.0	.	273;185;243;243	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	Q	243;243;243;243;243;243;185;273;243	ENSP00000353278:E243Q;ENSP00000346169:E243Q;ENSP00000418715:E243Q;ENSP00000346397:E243Q;ENSP00000378108:E243Q;ENSP00000341524:E243Q;ENSP00000378114:E185Q;ENSP00000378115:E273Q	ENSP00000341524:E243Q	E	-	1	0	SEPT6	118658743	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	7.487000	0.81328	2.354000	0.79902	0.594000	0.82650	GAA	.		0.552	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		G	118774715	C	G	118774715	3	3	10	1	0	0	0	0	1	0	0	0	14113	922	32	3	619	3	SEPT6	23	118774715	Missense_Mutation	SNP	C	TCGA-OR-A5JB-01A-11D-A29I-10	18699268	118774715	36495845	453	2779											
GRIA3	2892	bcgsc.ca	37	chrX	122537277	122537277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggctggctactggaaTgagtatgaaaggtttgtgcc	13	6	1	2	rs502434	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:122537277T>C	ENST00000371251.1	+	9	1252	c.1200T>C	c.(1198-1200)aaT>aaC	p.N400N	GRIA3_ENST00000542149.1_Silent_p.N400N|GRIA3_ENST00000371256.5_Silent_p.N400N|GRIA3_ENST00000541091.1_Silent_p.N384N|GRIA3_ENST00000264357.5_Silent_p.N400N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	400					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTACTGGAATGAGTATGAAA	0.423													T|||	1997	0.529007	0.3003	0.4308	3775	,	,		13991	0.5208		0.4682	False		,,,				2504	0.3119				p.N400N		.											.	GRIA3-134	0			c.T1200C						.	T	,	1647,2188		290,803,264,539,307	210	194	199		1200,1200	2.2	1	X	dbSNP_83	199	4115,2613		895,1165,1160,368,712	no	coding-synonymous,coding-synonymous	GRIA3	NM_000828.4,NM_007325.4	,	1185,1968,1424,907,1019	CC,CT,C,TT,T		38.8377,42.9465,45.4511	,	400/895,400/895	122537277	5762,4801	2203	4300	6503	SO:0001819	synonymous_variant	2892	exon9			CTGGAATGAGTAT	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1200T>C	X.37:g.122537277T>C		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	112	5	NM_000828	0	0	0	0	0	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																			T|0.362;0|0.004		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		C	122537277	T	C	122537277	2	2	10	1	0	0	0	0	0	0	0	1	6796	1461	51	4		4	GRIA3	23	122537277	Silent	SNP	T	TCGA-OR-A5JB-01A-11D-A29I-10	3762562	122537277	32733283	454	2780											
GPR112	139378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135431107	135431107	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attccagaatcactgttcctGaaaatatgctttcacctact	4	11	2	2			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:135431107G>A	ENST00000394143.1	+	6	5533	c.5242G>A	c.(5242-5244)Gaa>Aaa	p.E1748K	GPR112_ENST00000287534.4_Missense_Mutation_p.E1685K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1748K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1543K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1543K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1748					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACTGTTCCTGAAAATATGCT	0.428																																					p.E1748K		.											.	GPR112-183	0			c.G5242A						.						151	136	141					X																	135431107		2203	4300	6503	SO:0001583	missense	139378	exon6			GTTCCTGAAAATA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5242G>A	X.37:g.135431107G>A	ENSP00000377699:p.Glu1748Lys	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	28	19	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	12.47	1.948456	0.34377	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27104	1.73;1.73;1.69;1.84;1.69	3.05	-0.225	0.13111	.	.	.	.	.	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19817	0.039;0.003;0.0	B;B;B	0.20184	0.028;0.005;0.002	T	0.36696	-0.9737	9	0.09590	T	0.72	.	3.0363	0.06123	0.3034:0.2309:0.4657:0.0	.	1685;1543;1748	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1748;1748;1543;1685;1543	ENSP00000377699:E1748K;ENSP00000359686:E1748K;ENSP00000416526:E1543K;ENSP00000287534:E1685K;ENSP00000377697:E1543K	ENSP00000287534:E1685K	E	+	1	0	GPR112	135258773	0.192000	0.23301	0.001000	0.08648	0.513000	0.34164	0.105000	0.15333	0.057000	0.16193	0.458000	0.33432	GAA	.		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135431107	G	A	135431107	3	1	10	1	0	0	0	0	1	0	0	0	6655	1291	45	3	5252	3	GPR112	23	135431107	Missense_Mutation	SNP	G	TCGA-OR-A5JB-01A-11D-A29I-10	12893830	135431107	19839453	455	2781											
GABRD	2563	bcgsc.ca	37	chr1	1957037	1957037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaacgagaccctgggTctggacagccgcttcgtgga	12	14	1	1	rs2229110	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:1957037T>C	ENST00000378585.4	+	4	413	c.330T>C	c.(328-330)ggT>ggC	p.G110G		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	110					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACCCTGGGTCTGGACAGCC	0.617													C|||	2811	0.561302	0.7474	0.5101	5008	,	,		16340	0.3462		0.6809	False		,,,				2504	0.4448				p.G110G		.											.	GABRD-92	0			c.T330C						.	C		3220,1186	414.4+/-336.8	1183,854,166	98	97	97		330	2.5	1	1	dbSNP_98	97	5680,2920	455.2+/-363.7	1889,1902,509	no	coding-synonymous	GABRD	NM_000815.4		3072,2756,675	CC,CT,TT		33.9535,26.9178,31.57		110/453	1957037	8900,4106	2203	4300	6503	SO:0001819	synonymous_variant	2563	exon4			CCTGGGTCTGGAC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.330T>C	1.37:g.1957037T>C		Somatic	270	0		WXS	Illumina GAIIx	Phase_I	420	9	NM_000815	0	0	0	0	0	Q8N4N9	Silent	SNP	ENST00000378585.4	37	CCDS36.1																																																																																			T|0.334;C|0.666		0.617	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		C	1957037	T	C	1957037	2	2	11	1	0	0	0	0	0	0	0	1	6193	1654	58	4		4	GABRD	1	1957037	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		1957037	247293584	1	2782											
PEX10	5192	bcgsc.ca	37	chr1	2338015	2338015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctccaggcacagggTgcacagggggtttctggaaa	15	11	1	0	rs34154371	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:2338015T>C	ENST00000447513.2	-	5	888	c.820A>G	c.(820-822)Acc>Gcc	p.T274A	PEX10_ENST00000507596.1_Missense_Mutation_p.T274A|PEX10_ENST00000288774.3_Missense_Mutation_p.T294A|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	274			T -> A (in dbSNP:rs34154371). {ECO:0000269|PubMed:19105186}.		peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		AGGCACAGGGTGCACAGGGGG	0.642													T|||	43	0.00858626	0.0015	0.013	5008	,	,		16987	0		0.0229	False		,,,				2504	0.0092				p.T294A	GBM(12;9 508 1649 13619)	.											.	PEX10-90	0			c.A880G	GRCh37	CM090796	PEX10	M	rs34154371	.	T	ALA/THR,ALA/THR	26,4380	31.7+/-61.6	0,26,2177	36	39	38	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	820,880	5	1	1	dbSNP_126	38	246,8354	98.1+/-159.7	3,240,4057	yes	missense,missense	PEX10	NM_002617.3,NM_153818.1	58,58	3,266,6234	CC,CT,TT		2.8605,0.5901,2.0913	possibly-damaging,possibly-damaging	274/327,294/347	2338015	272,12734	2203	4300	6503	SO:0001583	missense	5192	exon5			ACAGGGTGCACAG	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.820A>G	1.37:g.2338015T>C	ENSP00000407922:p.Thr274Ala	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	42	34	NM_153818	0	0	2	18	16	B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	CCDS44045.1	21	0.009615384615384616	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	16	0.021108179419525065	T	13.95	2.388552	0.42308	0.005901	0.028605	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.84070	-1.8;-1.8;-1.8	5.02	5.02	0.67125	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.146789	0.64402	D	0.000009	T	0.51719	0.1691	N	0.01424	-0.875	0.45762	D	0.998653	D;P	0.56968	0.978;0.954	P;P	0.57911	0.829;0.568	T	0.75560	-0.3275	10	0.40728	T	0.16	-2.7586	13.8991	0.63792	0.0:0.0:0.0:1.0	rs34154371	274;294	O60683;O60683-2	PEX10_HUMAN;.	A	294;274;274	ENSP00000288774:T294A;ENSP00000407922:T274A;ENSP00000424291:T274A	ENSP00000288774:T294A	T	-	1	0	PEX10	2327875	1.000000	0.71417	0.992000	0.48379	0.956000	0.61745	5.632000	0.67819	1.875000	0.54330	0.379000	0.24179	ACC	T|0.984;C|0.016		0.642	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		C	2338015	T	C	2338015	3	2	11	1	0	0	0	0	1	0	0	0	11775	1696	59	4	168	4	PEX10	1	2338015	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	380978	2338015	246912606	2	2783											
SPRR3	6707	bcgsc.ca	37	chr1	152975763	152975763	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaggtccctgagccaggCtgtaccaaggtccctgagcc	11	15	0	2	rs1977734	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:152975763C>A	ENST00000295367.4	+	2	309	c.267C>A	c.(265-267)ggC>ggA	p.G89G	SPRR3_ENST00000542696.1_Silent_p.G89G|SPRR3_ENST00000331860.3_Silent_p.G89G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	89	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.602													T|||	2627	0.524561	0.5	0.4323	5008	,	,		17476	0.6319		0.5318	False		,,,				2504	0.5051				p.G89G		.											.	SPRR3-45	0			c.C267A						.	C	,	2311,2095		594,1123,486	72	60	64		267,267	1.5	0	1	dbSNP_92	64	4670,3928		1279,2112,908	no	coding-synonymous,coding-synonymous	SPRR3	NM_001097589.1,NM_005416.2	,	1873,3235,1394	AA,AC,CC		45.685,47.5488,46.3165	,	89/170,89/170	152975763	6981,6023	2203	4299	6502	SO:0001819	synonymous_variant	6707	exon2			GCCAGGCTGTACC	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.267C>A	1.37:g.152975763C>A		Somatic	131	2		WXS	Illumina GAIIx	Phase_I	132	6	NM_001097589	0	9	20	29	0	A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	CCDS1033.1																																																																																			T|0.136;G|0.132;C|0.344;A|0.387		0.602	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		A	152975763	C	A	152975763	2	1	11	1	0	0	0	0	0	0	0	1	15150	784	28	3		3	SPRR3	1	152975763	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	150637748	152975763	96274858	3	2784											
CHIT1	1118	bcgsc.ca	37	chr1	203186950	203186950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatctaagtccagtgccCagaccatggccccgcccagt	9	16	2	1	rs201320385|rs3831317|rs150192398	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:203186950C>T	ENST00000367229.1	-	10	1107	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W349*|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W339*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	358					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCAGTGCCCAGACCATGGC	0.632																																					p.W358X		.											.	CHIT1-90	0			c.G1073A						.						60	52	54					1																	203186950		2203	4300	6503	SO:0001587	stop_gained	1118	exon10			AGTGCCCAGACCA	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1073G>A	1.37:g.203186950C>T	ENSP00000356198:p.Trp358*	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	57	6	NM_003465	0	0	2	2	0	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918897	0.73098	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.57	4.57	0.56435	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7042	15.2284	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	358;339;349	.	ENSP00000255427:W339X	W	-	2	0	CHIT1	201453573	1.000000	0.71417	0.432000	0.26747	0.080000	0.17528	6.938000	0.75904	2.238000	0.73509	0.563000	0.77884	TGG	C|0.989;T|0.011		0.632	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186950	C	T	203186950	4	4	11	1	0	0	0	0	0	1	0	0	3353	595	21	3	335	3	CHIT1	1	203186950	Nonsense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	50211187	203186950	46063671	4	2785											
IKBKE	9641	bcgsc.ca	37	chr1	206650065	206650065	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcgaaagccccagcaAaaagcgttcggggtgactgt	13	10	0	1	rs41296034	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:206650065A>G	ENST00000367120.3	+	7	958	c.585A>G	c.(583-585)caA>caG	p.Q195Q	IKBKE_ENST00000537984.1_Silent_p.Q110Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AGCCCCAGCAAAAAGCGTTCG	0.617													A|||	90	0.0179712	0.0038	0.0202	5008	,	,		18713	0		0.0686	False		,,,				2504	0.002				p.Q195Q		.											.	IKBKE-1061	0			c.A585G						.	A	,,	78,4328	67.6+/-105.2	1,76,2126	84	72	77		330,585,585	-0.9	1	1	dbSNP_127	77	759,7841	179.9+/-228.9	33,693,3574	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	34,769,5700	GG,GA,AA		8.8256,1.7703,6.4355	,,	110/632,195/658,195/717	206650065	837,12169	2203	4300	6503	SO:0001819	synonymous_variant	9641	exon7			CCAGCAAAAAGCG	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.585A>G	1.37:g.206650065A>G		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	177	7	NM_001193322	0	0	0	0	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																			A|0.947;G|0.053		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			G	206650065	A	G	206650065	2	3	11	1	0	0	0	0	0	0	0	1	7639	11	1	4		4	IKBKE	1	206650065	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	3463115	206650065	42600556	5	2786											
OR2T11	127077	ucsc.edu;bcgsc.ca	37	chr1	248789753	248789753	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcgaccttcagcagagGgcatgcggtggatggttaac	14	8	1	1	rs28555577	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:248789753G>C	ENST00000330803.2	-	1	738	c.677C>G	c.(676-678)cCc>cGc	p.P226R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCAGCAGAGGGCATGCGGTG	0.502													c|||	405	0.0808706	0.0234	0.0735	5008	,	,		18667	0.2242		0.0746	False		,,,				2504	0.0225				p.P226R		.											.	OR2T11-69	0			c.C677G						.	C	ARG/PRO	179,3923		42,95,1914	67	68	68		677	-1.1	0.8	1	dbSNP_125	68	800,7670		115,570,3550	yes	missense	OR2T11	NM_001001964.1	103	157,665,5464	CC,CG,GG		9.4451,4.3637,7.7871	benign	226/317	248789753	979,11593	2051	4235	6286	SO:0001583	missense	127077	exon1			GCAGAGGGCATGC	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.677C>G	1.37:g.248789753G>C	ENSP00000328934:p.Pro226Arg	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	24	4	NM_001001964	0	0	0	0	0	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	243	0.11126373626373626	23	0.046747967479674794	30	0.08287292817679558	125	0.21853146853146854	65	0.08575197889182058	.	0.004	-2.250424	0.00268	0.043637	0.094451	ENSG00000183130	ENST00000330803	T	0.36520	1.25	4.24	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.169427	0.28414	N	0.015423	T	0.00012	0.0000	N	0.13235	0.315	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	0.02654	T	1	.	1.6102	0.02692	0.1172:0.2626:0.2302:0.39	rs28555577	226	Q8NH01	O2T11_HUMAN	R	226	ENSP00000328934:P226R	ENSP00000328934:P226R	P	-	2	0	OR2T11	246856376	0.000000	0.05858	0.783000	0.31826	0.008000	0.06430	-3.596000	0.00420	-0.423000	0.07394	-0.729000	0.03580	CCC	G|0.888;C|0.112		0.502	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		C	248789753	G	C	248789753	3	2	11	1	0	0	0	0	1	0	0	0	11057	1232	43	3	277	3	OR2T11	1	248789753	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	42139688	248789753	460868	6	2787											
OR2T27	403239	bcgsc.ca	37	chr1	248813280	248813280	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacacctccccacaaccttCtgtagggcccctgtgacatc	6	18	1	1	rs116125618	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr1:248813280C>T	ENST00000344889.3	-	1	905	c.906G>A	c.(904-906)caG>caA	p.Q302Q		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q302Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACAACCTTCTGTAGGGCCC	0.448													C|||	424	0.0846645	0.0076	0.0677	5008	,	,		20598	0.2669		0.0746	False		,,,				2504	0.0235				p.Q302Q		.											.	OR2T27-47	1	Substitution - coding silent(1)	stomach(1)	c.G906A						.	C		122,4236		16,90,2073	68	72	70		906	-0.1	0	1	dbSNP_132	70	745,7801		69,607,3597	no	coding-synonymous	OR2T27	NM_001001824.1		85,697,5670	TT,TC,CC		8.7175,2.7994,6.7188		302/318	248813280	867,12037	2179	4273	6452	SO:0001819	synonymous_variant	403239	exon1			AACCTTCTGTAGG		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.906G>A	1.37:g.248813280C>T		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	69	5	NM_001001824	0	0	0	0	0		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																			C|0.922;T|0.078		0.448	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		T	248813280	C	T	248813280	2	4	11	1	0	0	0	0	0	0	0	1	11060	912	32	3		3	OR2T27	1	248813280	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	23527	248813280	437341	7	2788											
PRKD3	23683	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	37543587	37543587	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaggacttgaacacggAgaagcagctggaagcacagc	13	9	1	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr2:37543587A>T	ENST00000379066.1	-	2	843	c.81T>A	c.(79-81)tcT>tcA	p.S27S	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Silent_p.S27S			O94806	KPCD3_HUMAN	protein kinase D3	27					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTGAACACGGAGAAGCAGCTG	0.483																																					p.S27S	Melanoma(80;621 1355 8613 11814 51767)	.											.	PRKD3-543	0			c.T81A						.						83	79	80					2																	37543587		2203	4300	6503	SO:0001819	synonymous_variant	23683	exon1			ACACGGAGAAGCA	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.81T>A	2.37:g.37543587A>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	124	10	NM_005813	0	0	0	0	0	D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	CCDS1789.1																																																																																			.		0.483	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37543587	A	T	37543587	2	4	11	1	0	0	0	0	0	0	0	1	12562	291	11	5		5	PRKD3	2	37543587	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10		37543587	205655786	8	2789											
SIX3	6496	hgsc.bcm.edu	37	chr2	45171842	45171842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgacggagcgcgcAgacaccggcacctccatcct	10	18	0	2	rs338074	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18	19	19		942	1	1	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		G	45171842	A	G	45171842	2	3	11	1	0	0	0	0	0	0	0	1	14393	175	7	4		4	SIX3	2	45171842	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	7628255	45171842	198027531	9	2790											
PRR21	643905	bcgsc.ca	37	chr2	240982103	240982103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggccgtgggtgaagaggcAtggacgaagggccgtgggtg	22	6	0	2	rs74344384	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr2:240982103A>G	ENST00000408934.1	-	1	296	c.297T>C	c.(295-297)caT>caC	p.H99H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	99	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGACGAAGG	0.617													-|||	1051	0.209864	0.205	0.1715	5008	,	,		18567	0.3651		0.1451	False		,,,				2504	0.1503				p.H99H		.											.	PRR21-70	0			c.T297C						.	A		386,3910		94,198,1856	80	79	80		297	-3.6	0	2	dbSNP_131	80	629,7911		201,227,3842	no	coding-synonymous	PRR21	NM_001080835.1		295,425,5698	GG,GA,AA		7.3653,8.9851,7.9074		99/390	240982103	1015,11821	2148	4270	6418	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.297T>C	2.37:g.240982103A>G		Somatic	123	9		WXS	Illumina GAIIx	Phase_I	84	30	NM_001080835	0	0	0	0	0		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																			A|0.951;G|0.049		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982103	A	G	240982103	2	3	11	1	0	0	0	0	0	0	0	1	12634	214	8	4		4	PRR21	2	240982103	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	195810261	240982103	2217270	10	2791											
GRM7	2917	bcgsc.ca	37	chr3	7620789	7620789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacatcatcatagactaTgatgaacacaagacaatgaa	5	10	2	5	rs1485175	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:7620789T>C	ENST00000357716.4	+	8	2470	c.2196T>C	c.(2194-2196)taT>taC	p.Y732Y	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.Y732Y|GRM7_ENST00000486284.1_Silent_p.Y732Y|GRM7_ENST00000403881.1_Silent_p.Y732Y|GRM7_ENST00000402647.2_Silent_p.Y732Y	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	732					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCATAGACTATGATGAACACA	0.423													T|||	2632	0.525559	0.5703	0.5144	5008	,	,		18820	0.4355		0.5835	False		,,,				2504	0.5061				p.Y732Y		.											.	GRM7-526	0			c.T2196C						.	T	,	2528,1878	631.3+/-395.6	723,1082,398	132	114	120		2196,2196	-0.1	1	3	dbSNP_88	120	4815,3785	614.9+/-396.3	1334,2147,819	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	2057,3229,1217	CC,CT,TT		44.0116,42.6237,43.5414	,	732/916,732/923	7620789	7343,5663	2203	4300	6503	SO:0001819	synonymous_variant	2917	exon8			AGACTATGATGAA	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.2196T>C	3.37:g.7620789T>C		Somatic	172	1		WXS	Illumina GAIIx	Phase_I	237	8	NM_000844	0	0	0	0	0	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																			T|0.451;C|0.549		0.423	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		C	7620789	T	C	7620789	2	2	11	1	0	0	0	0	0	0	0	1	6829	1471	51	4		4	GRM7	3	7620789	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		7620789	190401641	11	2792											
DPPA2	151871	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	109027035	109027035	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtattggtctcttctgctcTctcattcatctcataacttc	4	12	6	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:109027035T>A	ENST00000478945.1	-	6	748	c.502A>T	c.(502-504)Aga>Tga	p.R168*		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	168					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCTGCTCTCTCATTCATC	0.483																																					p.R168X		.											.	DPPA2-93	0			c.A502T						.						197	171	180					3																	109027035		2203	4300	6503	SO:0001587	stop_gained	151871	exon6			CTGCTCTCTCATT	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.502A>T	3.37:g.109027035T>A	ENSP00000417710:p.Arg168*	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	151	37	NM_138815	0	0	0	0	0	Q8WVF0	Nonsense_Mutation	SNP	ENST00000478945.1	37	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654309	0.88056	.	.	ENSG00000163530	ENST00000478945	.	.	.	4.11	0.346	0.16017	.	1.674670	0.03187	N	0.172884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	0.357	3.3009	0.06983	0.0:0.2435:0.2098:0.5467	.	.	.	.	X	168	.	ENSP00000417710:R168X	R	-	1	2	DPPA2	110509725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	0.053000	0.16036	-0.501000	0.04562	AGA	.		0.483	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		A	109027035	T	A	109027035	4	1	11	1	0	0	0	0	0	1	0	0	4748	1559	54	5	406	5	DPPA2	3	109027035	Nonsense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	101406246	109027035	88995395	12	2793											
ADPRH	141	broad.mit.edu	37	chr3	119306669	119306669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaccggctggaagagAcagctagggctttatattct	11	8	1	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:119306669A>G	ENST00000478399.1	+	4	2423	c.1018A>G	c.(1018-1020)Aca>Gca	p.T340A	ADPRH_ENST00000465513.1_Missense_Mutation_p.T340A|ADPRH_ENST00000357003.3_Missense_Mutation_p.T340A|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.T340A			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	340					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCTGGAAGAGACAGCTAGGGC	0.438																																					p.T340A	GBM(133;579 1804 5989 9967 40052)	.											.	ADPRH-91	0			c.A1018G						.						76	80	79					3																	119306669		2203	4300	6503	SO:0001583	missense	141	exon5			GAAGAGACAGCTA	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.1018A>G	3.37:g.119306669A>G	ENSP00000420200:p.Thr340Ala	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_001125	0	0	0	0	0	B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.590092	0.28357	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.05	-2.22	0.06952	.	0.740669	0.13604	N	0.375679	T	0.10809	0.0264	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	10	0.49607	T	0.09	-3.738	9.271	0.37670	0.2622:0.1364:0.6013:0.0	.	340	P54922	ADPRH_HUMAN	A	340	ENSP00000420200:T340A;ENSP00000417528:T340A;ENSP00000349496:T340A;ENSP00000417430:T340A	ENSP00000349496:T340A	T	+	1	0	ADPRH	120789359	0.076000	0.21285	0.751000	0.31187	0.990000	0.78478	0.288000	0.18939	-0.317000	0.08677	0.528000	0.53228	ACA	.		0.438	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		G	119306669	A	G	119306669	3	3	11	1	0	0	0	0	1	0	0	0	331	275	10	4	1028	4	ADPRH	3	119306669	Missense_Mutation	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	10279634	119306669	78715761	13	2794											
C3orf15	89876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	119462961	119462961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggctgagcgccagcGgcgggtacgagaggctgaag	18	10	0	3	rs556802557		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:119462961G>A	ENST00000273390.5	+	14	1897	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	443						mitochondrion (GO:0005739)											GAGCGCCAGCGGCGGGTACGA	0.587																																					p.R607Q		.											.	.	0			c.G1820A						.						74	70	71					3																	119462961		2203	4300	6503	SO:0001583	missense	89876	exon14			GCCAGCGGCGGGT	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.1820G>A	3.37:g.119462961G>A	ENSP00000273390:p.Arg607Gln	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	134	23	NM_033364	0	0	3	3	0	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844809	0.97016	.	.	ENSG00000183833	ENST00000273390	T	0.60040	0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.87097	2.86	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	0.83537	0.0094	10	0.87932	D	0	-12.1194	19.7305	0.96180	0.0:0.0:1.0:0.0	.	443;545;607	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	Q	607	ENSP00000273390:R607Q	ENSP00000273390:R607Q	R	+	2	0	C3orf15	120945651	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGG	.		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119462961	G	A	119462961	3	1	11	1	0	0	0	0	1	0	0	0	2216	1116	39	1	1874	1	C3orf15	3	119462961	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	156292	119462961	78559469	14	2795											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733053	126733053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcccggccctgcgCgagagctgcggcctctgcct	13	16	1	1	rs11719489	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18	21	20		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733053	C	T	126733053	2	4	11	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLXNA1	3	126733053	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	7270092	126733053	71289377	15	2796											
COL6A6	131873	bcgsc.ca	37	chr3	130361856	130361856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctcattcagtatgtgcGagaccgcagtcgtaagtacc	11	10	2	2	rs16830494	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:130361856G>A	ENST00000358511.6	+	30	5247	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1739Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1739	Nonhelical region.		R -> Q (in dbSNP:rs16830494).		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						CAGTATGTGCGAGACCGCAGT	0.388													G|||	607	0.121206	0.0461	0.1614	5008	,	,		18958	0.1855		0.0934	False		,,,				2504	0.1564				p.R1739Q		.											.	COL6A6-76	0			c.G5216A						.	G	GLN/ARG	232,3518		5,222,1648	114	100	104		5216	3.1	1	3	dbSNP_123	104	803,7421		40,723,3349	yes	missense	COL6A6	NM_001102608.1	43	45,945,4997	AA,AG,GG		9.7641,6.1867,8.6437	probably-damaging	1739/2264	130361856	1035,10939	1875	4112	5987	SO:0001583	missense	131873	exon30			ATGTGCGAGACCG	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.5216G>A	3.37:g.130361856G>A	ENSP00000351310:p.Arg1739Gln	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	86	6	NM_001102608	0	0	0	0	0	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	260	0.11904761904761904	23	0.046747967479674794	58	0.16022099447513813	107	0.18706293706293706	72	0.09498680738786279	G	15.35	2.808812	0.50421	0.061867	0.097641	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90504	-2.63;-2.68	5.77	3.06	0.35304	.	.	.	.	.	T	0.00637	0.0021	L	0.53249	1.67	0.34767	P	0.26665000000000005	B	0.30193	0.272	B	0.20955	0.032	T	0.32214	-0.9915	8	0.59425	D	0.04	.	9.6965	0.40161	0.2159:0.0:0.7841:0.0	rs16830494;rs56471849;rs16830494	1739	A6NMZ7	CO6A6_HUMAN	Q	1739	ENSP00000351310:R1739Q;ENSP00000399236:R1739Q	ENSP00000351310:R1739Q	R	+	2	0	COL6A6	131844546	0.995000	0.38212	0.990000	0.47175	0.931000	0.56810	1.703000	0.37846	0.387000	0.25024	-0.219000	0.12488	CGA	G|0.887;A|0.113		0.388	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130361856	G	A	130361856	3	1	11	1	0	0	0	0	1	0	0	0	3710	1058	37	1	5334	1	COL6A6	3	130361856	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	3628803	130361856	67660574	16	2797											
MUC20	200958	bcgsc.ca	37	chr3	195453257	195453257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaccgaccatggacatcGcaaccaaggggcccttcccc	9	17	0	1	rs3828406	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr3:195453257G>A	ENST00000447234.2	+	2	1909	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	MUC20_ENST00000436408.1_Missense_Mutation_p.A595T|MUC20_ENST00000445522.2_Missense_Mutation_p.A560T|MUC20_ENST00000320736.6_Missense_Mutation_p.A424T	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	595	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CATGGACATCGCAACCAAGGG	0.582																																					p.A424T		.											.	.	0			c.G1270A						.		THR/ALA,THR/ALA	1253,2893		58,1137,878	62	60	61		1165,1270	4.5	0	3	dbSNP_107	61	2926,5464		178,2570,1447	no	missense,missense	MUC20	NM_001098516.1,NM_152673.2	58,58	236,3707,2325	AA,AG,GG		34.8749,30.2219,33.336	benign,benign	389/504,424/539	195453257	4179,8357	2073	4195	6268	SO:0001583	missense	200958	exon3			GACATCGCAACCA	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.1783G>A	3.37:g.195453257G>A	ENSP00000414350:p.Ala595Thr	Somatic	212	1		WXS	Illumina GAIIx	Phase_I	226	9	NM_152673	0	0	3	3	0	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		802|802	0.36721611721611724|0.36721611721611724	178|178	0.3617886178861789|0.3617886178861789	124|124	0.3425414364640884|0.3425414364640884	251|251	0.4388111888111888|0.4388111888111888	249|249	0.32849604221635886|0.32849604221635886	A|A	1.905|1.905	-0.452224|-0.452224	0.04540|0.04540	0.302219|0.302219	0.348749|0.348749	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|.	0.12361|.	3.1;3.04;3.26;2.69|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.826684|.	0.10455|.	N|.	0.672700|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01048|0.01048	-1.04|-1.04	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.44726|0.44726	-0.9309|-0.9309	9|4	0.02654|.	T|.	1|.	-0.0298|-0.0298	7.0355|7.0355	0.24991|0.24991	0.8978:0.0:0.1022:0.0|0.8978:0.0:0.1022:0.0	rs3828406;rs9870845|rs3828406;rs9870845	424|.	E9PH32|.	.|.	T|H	406;595;424;595;560|6	ENSP00000414350:A595T;ENSP00000325431:A424T;ENSP00000396774:A595T;ENSP00000405629:A560T|.	ENSP00000325431:A424T|.	A|R	+|+	1|2	0|0	MUC20|MUC20	196938928|196938928	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.433000|1.433000	0.34947|0.34947	0.859000|0.859000	0.35456|0.35456	-0.375000|-0.375000	0.07067|0.07067	GCA|CGC	G|0.643;A|0.357		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		A	195453257	G	A	195453257	3	1	11	1	0	0	0	0	1	0	0	0	10014	1087	38	1	1280	1	MUC20	3	195453257	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	65091401	195453257	2569173	17	2798											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_175918	0	0	7	11	4	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	11	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		1388755	189765521	18	2799											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389130	1389130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcacgtgccgatgtggGgtgcccgcctgctcacatgt	13	14	2	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr4:1389130G>A	ENST00000324803.4	+	1	3791	c.831G>A	c.(829-831)ggG>ggA	p.G277G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	277					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G277G(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGGGTGCCCGCCT	0.687																																					p.G277G		.											.	CRIPAK-90	1	Substitution - coding silent(1)	lung(1)	c.G831A						.						154	143	147					4																	1389130		2202	4299	6501	SO:0001819	synonymous_variant	285464	exon1			ATGTGGGGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.831G>A	4.37:g.1389130G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	99	7	NM_175918	0	0	6	9	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			.		0.687	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		A	1389130	G	A	1389130	2	1	11	1	0	0	0	0	0	0	0	1	3884	1219	43	3		3	CRIPAK	4	1389130	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	375	1389130	189765146	19	2800											
ANKRD17	26057	ucsc.edu;bcgsc.ca	37	chr4	73956553	73956553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccccagaaggcatgagcAgaagtagggctgttttcaaa	11	10	1	3			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr4:73956553A>G	ENST00000358602.4	-	29	6908	c.6792T>C	c.(6790-6792)tcT>tcC	p.S2264S	ANKRD17_ENST00000509867.2_Silent_p.S2151S|ANKRD17_ENST00000330838.6_Silent_p.S2013S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2264					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)			AGGCATGAGCAGAAGTAGGGC	0.428																																					p.S2264S		.											.	ANKRD17-234	0			c.T6792C						.						196	202	200					4																	73956553		2203	4300	6503	SO:0001819	synonymous_variant	26057	exon29			ATGAGCAGAAGTA	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.6792T>C	4.37:g.73956553A>G		Somatic	152	2		WXS	Illumina GAIIx	Phase_I	224	64	NM_032217	0	0	14	17	3	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																			.		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73956553	A	G	73956553	2	3	11	1	0	0	0	0	0	0	0	1	646	175	7	4		4	ANKRD17	4	73956553	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	72567423	73956553	117197723	20	2801											
SDAD1	55153	bcgsc.ca	37	chr4	76878716	76878716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caatgtatttcctcttctggGatttcccgggggcagcatca	10	11	3	0	rs2242471	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr4:76878716G>C	ENST00000356260.5	-	19	1842	c.1724C>G	c.(1723-1725)tCc>tGc	p.S575C	SDAD1_ENST00000395711.4_Missense_Mutation_p.S538C|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	575			S -> C (in dbSNP:rs2242471). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCTTCTGGGATTTCCCGGG	0.458													G|||	1397	0.278954	0.2368	0.2089	5008	,	,		19049	0.0734		0.4225	False		,,,				2504	0.4499				p.S575C		.											.	SDAD1-91	0			c.C1724G						.	G	CYS/SER	1104,3302	396.5+/-330.1	135,834,1234	137	138	138		1724	5.2	1	4	dbSNP_98	138	3365,5235	500.1+/-375.1	629,2107,1564	yes	missense	SDAD1	NM_018115.2	112	764,2941,2798	CC,CG,GG		39.1279,25.0567,34.3611	possibly-damaging	575/688	76878716	4469,8537	2203	4300	6503	SO:0001583	missense	55153	exon19			TTCTGGGATTTCC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1724C>G	4.37:g.76878716G>C	ENSP00000348596:p.Ser575Cys	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_018115	0	0	21	21	0	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	552	0.25274725274725274	107	0.21747967479674796	83	0.2292817679558011	37	0.06468531468531469	325	0.4287598944591029	G	17.93	3.509480	0.64522	0.250567	0.391279	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.86432	1.89;-2.12	5.15	5.15	0.70609	SDA1 (1);	0.161367	0.56097	D	0.000037	T	0.00012	0.0000	L	0.46157	1.445	0.35218	P	0.22419699999999998	P;P	0.51057	0.941;0.602	P;B	0.49477	0.612;0.312	T	0.00888	-1.1526	9	0.59425	D	0.04	-4.1951	16.483	0.84163	0.0:0.0:1.0:0.0	rs2242471;rs3201420;rs11557433;rs17288280;rs52806783;rs2242471	538;575	E7EW05;Q9NVU7	.;SDA1_HUMAN	C	575;538	ENSP00000348596:S575C;ENSP00000379061:S538C	ENSP00000348596:S575C	S	-	2	0	SDAD1	77097740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.973000	0.56845	2.581000	0.87130	0.650000	0.86243	TCC	G|0.688;C|0.312		0.458	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		C	76878716	G	C	76878716	3	2	11	1	0	0	0	0	1	0	0	0	13995	1174	41	3	355	3	SDAD1	4	76878716	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	2922163	76878716	114275560	21	2802											
PDLIM4	8572	hgsc.bcm.edu	37	chr5	131607588	131607588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgagtgcacgcgctgcGgccacggcatcgtgtgagta	15	13	0	1	rs4877	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr5:131607588G>T	ENST00000253754.3	+	6	839	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C	PDLIM4_ENST00000379018.3_Intron|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	259	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.		G -> C (in dbSNP:rs4877). {ECO:0000269|Ref.1}.				zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCGCTGCGGCCACGGCAT	0.731													G|||	603	0.120407	0.0832	0.0591	5008	,	,		13153	0.2837		0.1034	False		,,,				2504	0.0634				p.G259C		.											.	PDLIM4-91	0			c.G775T						.	G	,CYS/GLY	426,3944		21,384,1780	11	14	13		,775	5.1	1	5	dbSNP_52	13	752,7778		38,676,3551	no	intron,missense	PDLIM4	NM_001131027.1,NM_003687.3	,159	59,1060,5331	TT,TG,GG		8.8159,9.7483,9.1318	,benign	,259/331	131607588	1178,11722	2185	4265	6450	SO:0001583	missense	8572	exon6			CGCTGCGGCCACG	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.775G>T	5.37:g.131607588G>T	ENSP00000253754:p.Gly259Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	31	17	NM_003687	0	0	0	0	0	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	311	0.1423992673992674	52	0.10569105691056911	28	0.07734806629834254	153	0.2674825174825175	78	0.10290237467018469	G	16.49	3.138895	0.56936	0.097483	0.088159	ENSG00000131435	ENST00000253754	D	0.88124	-2.34	5.09	5.09	0.68999	Zinc finger, LIM-type (5);	0.118294	0.56097	D	0.000033	T	0.00073	0.0002	M	0.86502	2.82	0.09310	P	1.0	B	0.16603	0.018	B	0.22880	0.042	T	0.19679	-1.0298	9	0.59425	D	0.04	-13.8161	13.8019	0.63206	0.0765:0.0:0.9235:0.0	rs4877;rs10613;rs1131322;rs2292258;rs3191126;rs17165851	259	P50479	PDLI4_HUMAN	C	259	ENSP00000253754:G259C	ENSP00000253754:G259C	G	+	1	0	PDLIM4	131635487	0.989000	0.36119	1.000000	0.80357	0.976000	0.68499	1.953000	0.40352	2.359000	0.80004	0.655000	0.94253	GGC	G|0.858;T|0.142		0.731	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		T	131607588	G	T	131607588	3	4	11	1	0	0	0	0	1	0	0	0	11721	1116	39	2	797	2	PDLIM4	5	131607588	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		131607588	49307672	22	2803											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	11	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	542096	132149684	48765576	23	2804											
PCDHA8	56140	broad.mit.edu;bcgsc.ca	37	chr5	140221312	140221312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgccagtgttccgggtaAaagaccaaaagctgtttgtt	10	10	0	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr5:140221312A>G	ENST00000531613.1	+	1	406	c.406A>G	c.(406-408)Aaa>Gaa	p.K136E	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K136E|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	136					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCGGGTAAAAGACCAAAA	0.532																																					p.K136E		.											.	PCDHA8-92	0			c.A406G						.						99	109	105					5																	140221312		2203	4299	6502	SO:0001583	missense	56140	exon1			CGGGTAAAAGACC	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.406A>G	5.37:g.140221312A>G	ENSP00000434655:p.Lys136Glu	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	278	8	NM_031856	0	0	0	0	0	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	A	8.598	0.886148	0.17540	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20069	2.1;2.1	3.72	1.16	0.20824	Cadherin (1);Cadherin-like (1);	0.200837	0.23777	U	0.044677	T	0.10208	0.0250	L	0.33792	1.035	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.14578	0.011;0.01	T	0.38757	-0.9646	10	0.02654	T	1	.	4.0774	0.09911	0.6512:0.0:0.1951:0.1537	.	136;136	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	136	ENSP00000434655:K136E;ENSP00000367363:K136E	ENSP00000367363:K136E	K	+	1	0	PCDHA8	140201496	0.006000	0.16342	0.000000	0.03702	0.041000	0.13682	1.328000	0.33758	0.020000	0.15106	-0.394000	0.06481	AAA	.		0.532	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		G	140221312	A	G	140221312	3	3	11	1	0	0	0	0	1	0	0	0	11569	15	1	4	408	4	PCDHA8	5	140221312	Missense_Mutation	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	8071628	140221312	40693948	24	2805											
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559342	140559342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgccctgcaccgagcTggtgccccgggcggccgagc	15	19	0	0	rs138970173		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr5:140559342T>C	ENST00000239444.2	+	1	1972	c.1727T>C	c.(1726-1728)cTg>cCg	p.L576P	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	576	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACCGAGCTGGTGCCCCGG	0.701																																					p.L576P		.											.	PCDHB8-131	0			c.T1727C						.						9	17	14					5																	140559342		2133	4184	6317	SO:0001583	missense	56128	exon1			CCGAGCTGGTGCC	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.1727T>C	5.37:g.140559342T>C	ENSP00000239444:p.Leu576Pro	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	106	9	NM_019120	0	0	28	29	1	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970003	0.53614	.	.	ENSG00000120322	ENST00000239444	T	0.68479	-0.33	4.22	4.22	0.49857	Cadherin-like (1);	.	.	.	.	T	0.80292	0.4596	M	0.75264	2.295	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.82752	-0.0302	9	0.72032	D	0.01	.	13.0554	0.58977	0.0:0.0:0.0:1.0	.	576	Q9UN66	PCDB8_HUMAN	P	576	ENSP00000239444:L576P	ENSP00000239444:L576P	L	+	2	0	PCDHB8	140539526	0.646000	0.27295	1.000000	0.80357	0.704000	0.40688	0.869000	0.27996	1.561000	0.49584	0.248000	0.18094	CTG	T|1.000;C|0.000		0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		C	140559342	T	C	140559342	3	2	11	1	0	0	0	0	1	0	0	0	11587	1580	55	4	1729	4	PCDHB8	5	140559342	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	338030	140559342	40355918	25	2806											
PCDHB12	56124	hgsc.bcm.edu	37	chr5	140590139	140590139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	12	15	0	0	rs145232861	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr5:140590139G>A	ENST00000239450.2	+	1	1849	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A217T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711													G|||	11	0.00219649	0	0.0014	5008	,	,		16609	0		0.0099	False		,,,				2504	0				p.A554T		.											.	PCDHB12-93	0			c.G1660A						.	G	THR/ALA	6,4392		0,6,2193	23	27	26		1660	2.5	1	5	dbSNP_134	26	29,8559		0,29,4265	no	missense	PCDHB12	NM_018932.3	58	0,35,6458	AA,AG,GG		0.3377,0.1364,0.2695	benign	554/796	140590139	35,12951	2199	4294	6493	SO:0001583	missense	56124	exon1			CTGGACGCCAACG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1660G>A	5.37:g.140590139G>A	ENSP00000239450:p.Ala554Thr	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	267	161	NM_018932	0	0	60	61	1	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965816	0.18583	0.001364	0.003377	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.03181	4.02;4.02	3.41	2.5	0.30297	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02533	0.0077	N	0.13352	0.335	0.09310	N	0.999998	B	0.34015	0.435	B	0.23716	0.048	T	0.46442	-0.9191	9	0.40728	T	0.16	.	12.3896	0.55350	0.0:0.481:0.519:0.0	.	554	Q9Y5F1	PCDBC_HUMAN	T	217;554;174	ENSP00000440199:A217T;ENSP00000239450:A554T	ENSP00000239450:A554T	A	+	1	0	PCDHB12	140570323	0.000000	0.05858	0.953000	0.39169	0.995000	0.86356	0.135000	0.15952	0.525000	0.28522	0.485000	0.47835	GCC	G|0.875;A|0.125		0.711	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		A	140590139	G	A	140590139	3	1	11	1	0	0	0	0	1	0	0	0	11576	1087	38	1	1662	1	PCDHB12	5	140590139	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	30797	140590139	40325121	26	2807											
C6orf136	221545	hgsc.bcm.edu	37	chr6	30615260	30615260	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagcgggagggaggcgCtgccgggcctgtcgcgcaag	22	11	0	0	rs3132594	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:30615260C>T	ENST00000376473.5	+	1	231				C6orf136_ENST00000293604.6_Silent_p.R84R|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000493705.1_Intron|C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000376471.4_Intron	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGGGAGGCGCTGCCGGGCCT	0.746													C|||	292	0.0583067	0.1589	0.0605	5008	,	,		10975	0.004		0.0288	False		,,,				2504	0.0072				p.R84R		.											.	C6orf136-90	0			c.C252T						.						2	4	3					6																	30615260		539	1316	1855	SO:0001627	intron_variant	221545	exon1			GAGGCGCTGCCGG	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.72+180C>T	6.37:g.30615260C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001161376	0	0	1	3	2	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Silent	SNP	ENST00000376473.5	37	CCDS43443.1																																																																																			C|0.944;T|0.056		0.746	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		T	30615260	C	T	30615260	1	4	11	0	1	0	0	0	0	0	0	0	2338	784	28	3		3	C6orf136	6	30615260	Intron	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		30615260	140499807	27	2808											
C6orf15	29113	bcgsc.ca	37	chr6	31079994	31079994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtggaggaaggttgtcCgagctgaggcaagttggtcc	17	8	0	1	rs2233976	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:31079994C>T	ENST00000259870.3	-	2	145	c.142G>A	c.(142-144)Gga>Aga	p.G48R	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	48			G -> R (in dbSNP:rs2233976).		extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G48R(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GAAGGTTGTCCGAGCTGAGGC	0.552													C|||	400	0.0798722	0.0461	0.1455	5008	,	,		18984	0.0387		0.1163	False		,,,				2504	0.0838				p.G48R		.											.	C6orf15-90	1	Substitution - Missense(1)	stomach(1)	c.G142A						.	C	ARG/GLY	240,4088		5,230,1929	127	150	143		142	3	0	6	dbSNP_98	143	786,7762		49,688,3537	yes	missense	C6orf15	NM_014070.2	125	54,918,5466	TT,TC,CC		9.1951,5.5453,7.9683	probably-damaging	48/326	31079994	1026,11850	2164	4274	6438	SO:0001583	missense	29113	exon2			GTTGTCCGAGCTG	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.142G>A	6.37:g.31079994C>T	ENSP00000259870:p.Gly48Arg	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_014070	0	0	0	0	0	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	CCDS4693.1	194	0.08882783882783883	22	0.044715447154471545	60	0.16574585635359115	20	0.03496503496503497	92	0.12137203166226913	C	15.74	2.921597	0.52653	0.055453	0.091951	ENSG00000204542	ENST00000259870	T	0.06371	3.31	4.81	3.01	0.34805	.	0.288753	0.24886	N	0.034817	T	0.02767	0.0083	L	0.56769	1.78	0.80722	P	0.0	P	0.47409	0.895	B	0.40256	0.324	T	0.37220	-0.9715	9	0.72032	D	0.01	-5.6377	6.5402	0.22377	0.0:0.7202:0.1819:0.0979	rs2233976;rs52800999;rs2233976	48	Q6UXA7	CF015_HUMAN	R	48	ENSP00000259870:G48R	ENSP00000259870:G48R	G	-	1	0	C6orf15	31187973	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.533000	0.23082	0.605000	0.29947	0.549000	0.68633	GGA	C|0.919;T|0.081		0.552	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		T	31079994	C	T	31079994	3	4	11	1	0	0	0	0	1	0	0	0	2343	661	23	1	839	1	C6orf15	6	31079994	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	464734	31079994	140035073	28	2809											
HLA-B	3106	bcgsc.ca;mdanderson.org	37	chr6	31324100	31324100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcggcggtccaggagcGcaggtcctcgttcagggcga	17	13	1	0	rs1050654	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:31324100G>T	ENST00000412585.2	-	3	491	c.463C>A	c.(463-465)Cgc>Agc	p.R155S		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	155	Alpha-2.		R -> S (in dbSNP:rs1050654).		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						GTCCAGGAGCGCAGGTCCTCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.R155S		.											.	HLA-B-90	0			c.C463A						.						30	22	24					6																	31324100		2099	4187	6286	SO:0001583	missense	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	AGGAGCGCAGGTC	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.463C>A	6.37:g.31324100G>T	ENSP00000399168:p.Arg155Ser	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	262	56	NM_005514	0	0	384	384	0	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	917	0.4198717948717949	193	0.39227642276422764	166	0.4585635359116022	255	0.4458041958041958	303	0.3997361477572559	N	5.901	0.350341	0.11182	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00753	5.74;5.74	3.18	-0.322	0.12713	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	3.116210	0.03799	N	0.264097	T	0.00271	0.0008	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.44498	-0.9324	8	0.38643	T	0.18	.	7.8334	0.29355	0.0:0.1263:0.3528:0.5209	rs1050654;rs3176002;rs9266148;rs17839963	155;155	P30480;P01889	1B42_HUMAN;1B07_HUMAN	S	155;34;34;166	ENSP00000399168:R155S;ENSP00000405931:R166S	ENSP00000399168:R155S	R	-	1	0	HLA-B	31432079	0.000000	0.05858	0.063000	0.19743	0.021000	0.10359	-0.271000	0.08572	-0.595000	0.05828	-2.445000	0.00210	CGC	T|0.427;G|0.573		0.701	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324100	G	T	31324100	3	4	11	1	0	0	0	0	1	0	0	0	7223	1087	38	2	645	2	HLA-B	6	31324100	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	244106	31324100	139790967	29	2810											
PBX2	5089	hgsc.bcm.edu	37	chr6	32157639	32157639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccactcaccaatccCaggcccccccggcccccgcc	7	26	1	0	rs169503	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:32157639C>T	ENST00000375050.4	-	1	324	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	18					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCACCAATCCCAggccccccc	0.786													C|||	838	0.167332	0.2625	0.0908	5008	,	,		6921	0.1369		0.1034	False		,,,				2504	0.1902				p.L18L		.											.	PBX2-91	0			c.G54A						.						5	8	7					6																	32157639		1309	2460	3769	SO:0001819	synonymous_variant	5089	exon1			CAATCCCAGGCCC		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.54G>A	6.37:g.32157639C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_002586	0	0	0	1	1	A2BFJ2	Silent	SNP	ENST00000375050.4	37	CCDS4748.1																																																																																			C|0.874;T|0.126		0.786	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			T	32157639	C	T	32157639	2	4	11	1	0	0	0	0	0	0	0	1	11532	581	21	3		3	PBX2	6	32157639	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	833539	32157639	138957428	30	2811											
HTR1B	3351	bcgsc.ca	37	chr6	78172260	78172260	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcgcactttgacttggttCacatacacaggagatccgga	9	11	1	2	rs6296	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:78172260C>G	ENST00000369947.2	-	1	1230	c.861G>C	c.(859-861)gtG>gtC	p.V287V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	287					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGACTTGGTTCACATACACAG	0.577													C|||	1693	0.338059	0.2436	0.4049	5008	,	,		16718	0.5089		0.2634	False		,,,				2504	0.319				p.V287V		.											.	HTR1B-90	0			c.G861C						.	C		987,3419	364.9+/-317.2	124,739,1340	134	147	143		861	4.2	1	6	dbSNP_52	143	2257,6343	381.2+/-339.9	311,1635,2354	no	coding-synonymous	HTR1B	NM_000863.1		435,2374,3694	GG,GC,CC		26.2442,22.4013,24.9423		287/391	78172260	3244,9762	2203	4300	6503	SO:0001819	synonymous_variant	3351	exon1			TTGGTTCACATAC	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.861G>C	6.37:g.78172260C>G		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_000863	0	0	2	2	0	Q4VAY7	Silent	SNP	ENST00000369947.2	37	CCDS4986.1																																																																																			C|0.650;G|0.350		0.577	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		G	78172260	C	G	78172260	2	3	11	1	0	0	0	0	0	0	0	1	7464	813	29	3		3	HTR1B	6	78172260	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	46014621	78172260	92942807	31	2812											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	11	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	21111116	99283376	71831691	32	2813											
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	144878365	144878365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acgtcctgcagaaactcctgGaggaatatgggagtgatgac	13	8	0	3			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:144878365G>C	ENST00000367545.3	+	49	7207	c.7207G>C	c.(7207-7209)Gag>Cag	p.E2403Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2403					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)		GAAACTCCTGGAGGAATATGG	0.453																																					p.E2403Q		.											.	UTRN-95	0			c.G7207C						.						135	127	129					6																	144878365		2203	4300	6503	SO:0001583	missense	7402	exon49			CTCCTGGAGGAAT	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.7207G>C	6.37:g.144878365G>C	ENSP00000356515:p.Glu2403Gln	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	153	11	NM_007124	0	0	0	0	0	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605127	0.46423	.	.	ENSG00000152818	ENST00000367545	T	0.36340	1.26	5.93	4.08	0.47627	.	0.478241	0.17655	N	0.166529	T	0.11495	0.0280	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04708	-1.0932	10	0.33141	T	0.24	.	14.7419	0.69461	0.0:0.5642:0.4358:0.0	.	2403	P46939	UTRO_HUMAN	Q	2403	ENSP00000356515:E2403Q	ENSP00000356515:E2403Q	E	+	1	0	UTRN	144920058	0.998000	0.40836	0.991000	0.47740	0.874000	0.50279	3.571000	0.53841	1.470000	0.48102	0.655000	0.94253	GAG	.		0.453	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			C	144878365	G	C	144878365	3	2	11	1	0	0	0	0	1	0	0	0	17152	1175	41	3	7401	3	UTRN	6	144878365	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	45594989	144878365	26236702	33	2814											
ZC3H12D	340152	hgsc.bcm.edu	37	chr6	149772190	149772190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcaggccgggcggagGcgggaggtcgcccggggaga	23	10	0	1	rs112722576	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:149772190G>A	ENST00000409806.3	-	6	1531	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ZC3H12D_ENST00000498662.1_5'Flank|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A307V|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A307V|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P405S			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	405	Pro-rich. {ECO:0000255}.			P -> S (in Ref. 4; AAI57833). {ECO:0000305}.	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)	p.P405S(1)		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)		CCGGGCGGAGGCGGGAGGTCG	0.776													G|||	1682	0.335863	0.1619	0.389	5008	,	,		8771	0.7649		0.1412	False		,,,				2504	0.2914				p.P405S		.											.	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1213T						.	G	SER/PRO	516,2856		37,442,1207	3	5	4		1213	-1.9	0	6	dbSNP_132	4	945,6567		66,813,2877	no	missense	ZC3H12D	NM_207360.2	74	103,1255,4084	AA,AG,GG		12.5799,15.3025,13.4234	benign	405/528	149772190	1461,9423	1686	3756	5442	SO:0001583	missense	340152	exon6			GCGGAGGCGGGAG			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.1213C>T	6.37:g.149772190G>A	ENSP00000386616:p.Pro405Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_207360	0	0	0	0	0	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		724|724	0.3315018315018315|0.3315018315018315	94|94	0.1910569105691057|0.1910569105691057	123|123	0.3397790055248619|0.3397790055248619	399|399	0.6975524475524476|0.6975524475524476	108|108	0.1424802110817942|0.1424802110817942	G|G	14.21|14.21	2.466986|2.466986	0.43839|0.43839	0.153025|0.153025	0.125799|0.125799	ENSG00000178199|ENSG00000178199	ENST00000416573;ENST00000542614|ENST00000389942;ENST00000409806	T;T|T;T	0.31247|0.25749	1.53;1.5|1.78;1.78	2.45|2.45	-1.9|-1.9	0.07665|0.07665	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.11427|0.11427	0.14|0.14	0.80722|0.80722	P|P	0.0|0.0	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.42085|0.42085	-0.9472|-0.9472	8|8	0.27785|0.06365	T|T	0.31|0.9	1.0E-4|1.0E-4	3.5413|3.5413	0.07812|0.07812	0.5478:0.2181:0.2341:0.0|0.5478:0.2181:0.2341:0.0	.|.	307|405	B7WNU7|A2A288	.|ZC12D_HUMAN	V|S	307|405	ENSP00000408686:A307V;ENSP00000440813:A307V|ENSP00000374592:P405S;ENSP00000386616:P405S	ENSP00000408686:A307V|ENSP00000374592:P405S	A|P	-|-	2|1	0|0	ZC3H12D|ZC3H12D	149813883|149813883	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.563000|0.563000	0.35712|0.35712	0.541000|0.541000	0.23207|0.23207	-0.300000|-0.300000	0.08895|0.08895	0.313000|0.313000	0.20887|0.20887	GCC|CCT	G|0.668;A|0.332		0.776	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		A	149772190	G	A	149772190	3	1	11	1	0	0	0	0	1	0	0	0	17612	1203	42	3	374	3	ZC3H12D	6	149772190	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	4893825	149772190	21342877	34	2815											
SYNE1	23345	bcgsc.ca	37	chr6	152576080	152576080	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgttgattcactactgagtCtagcaaggataacctgccca	8	11	2	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:152576080C>A	ENST00000367255.5	-	104	20006	c.19405G>T	c.(19405-19407)Gac>Tac	p.D6469Y	SYNE1_ENST00000356820.4_Missense_Mutation_p.D993Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6398Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6469Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6081Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6398Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6469					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)		ACTACTGAGTCTAGCAAGGAT	0.363										HNSCC(10;0.0054)																											p.D6469Y		.											.	SYNE1-607	0			c.G19405T						.						110	100	103					6																	152576080		2203	4300	6503	SO:0001583	missense	23345	exon104			CTGAGTCTAGCAA	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.19405G>T	6.37:g.152576080C>A	ENSP00000356224:p.Asp6469Tyr	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	122	6	NM_182961	0	0	0	0	0	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	18.93	3.728696	0.69074	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.51;0.44;0.51;0.63;2.56	5.76	4.89	0.63831	.	0.090101	0.47455	D	0.000229	T	0.57592	0.2064	L	0.50333	1.59	0.40338	D	0.979	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.68353	0.906;0.906;0.957	T	0.64415	-0.6413	10	0.72032	D	0.01	.	14.8539	0.70319	0.0:0.9311:0.0:0.0689	.	6469;6469;6398	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	Y	6469;6398;6469;6398;6081;993	ENSP00000356224:D6469Y;ENSP00000396024:D6398Y;ENSP00000265368:D6469Y;ENSP00000390975:D6398Y;ENSP00000341887:D6081Y;ENSP00000349276:D993Y	ENSP00000265368:D6469Y	D	-	1	0	SYNE1	152617773	1.000000	0.71417	0.967000	0.41034	0.876000	0.50452	5.989000	0.70587	1.451000	0.47736	0.655000	0.94253	GAC	.		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152576080	C	A	152576080	3	1	11	1	0	0	0	0	1	0	0	0	15492	913	32	3	7233	3	SYNE1	6	152576080	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	2803890	152576080	18538987	35	2816											
FBXO5	26271	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	153296478	153296481	+	Frame_Shift_Del	DEL	TAAG	TAAG	-													ttctatttcatttgtactatTaagtgtctgttgcacatgtt					rs17083348	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	TAAG	TAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr6:153296478_153296481delTAAG	ENST00000229758.3	-	2	437_440	c.379_382delCTTA	c.(379-384)cttaatfs	p.LN127fs	FBXO5_ENST00000367241.3_Frame_Shift_Del_p.LN81fs|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	127					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)		TTTGTACTATTAAGTGTCTGTTGC	0.402																																					p.127_128del	NSCLC(121;372 1757 17721 17977 29669)	.											.	FBXO5-658	0			c.379_382del						.																																			SO:0001589	frameshift_variant	26271	exon2			TACTATTAAGTGT	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.379_382delCTTA	6.37:g.153296478_153296481delTAAG	ENSP00000229758:p.Leu127fs	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	133	18	NM_012177	0	0	0	0	0	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Frame_Shift_Del	DEL	ENST00000229758.3	37	CCDS5242.1																																																																																			.		0.402	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			-	153296481	TAAG	-	153296478	7	5	11	1	0	1	0	1	0	0	0	0	5780	1754	61	0	977	0	FBXO5	6	153296478	Frame_Shift_Del	DEL	TAAG	TCGA-OR-A5JC-01A-11D-A29I-10	720398	153296478	17818589	36	2817											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000578994.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_002047	0	0	0	4	4	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	11	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		30634661	128504002	37	2818											
OR2AE1	81392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	99473846	99473846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagaacacagaaccaacttTgttctgcaatagagtgcact	8	9	1	3			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr7:99473846T>C	ENST00000316368.2	-	1	834	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAACCAACTTTGTTCTGCAAT	0.473																																					p.K271E		.											.	OR2AE1-90	0			c.A811G						.						97	101	100					7																	99473846		2203	4300	6503	SO:0001583	missense	81392	exon1			CAACTTTGTTCTG	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.811A>G	7.37:g.99473846T>C	ENSP00000313936:p.Lys271Glu	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	69	8	NM_001005276	0	0	0	0	0	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311822	0.23821	.	.	ENSG00000244623	ENST00000316368	T	0.00183	8.6	3.84	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.178984	0.26836	N	0.022259	T	0.00496	0.0016	M	0.81497	2.545	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.37009	-0.9724	10	0.72032	D	0.01	.	8.8911	0.35434	0.0:0.0:0.1892:0.8108	.	271	Q8NHA4	O2AE1_HUMAN	E	271	ENSP00000313936:K271E	ENSP00000313936:K271E	K	-	1	0	OR2AE1	99311782	0.700000	0.27796	0.015000	0.15790	0.058000	0.15608	1.589000	0.36644	0.796000	0.33947	0.405000	0.27470	AAA	.		0.473	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			C	99473846	T	C	99473846	3	2	11	1	0	0	0	0	1	0	0	0	11022	1821	63	4	164	4	OR2AE1	7	99473846	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	68839185	99473846	59664817	38	2819											
ZC3HC1	51530	ucsc.edu;bcgsc.ca	37	chr7	129664312	129664312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatacattgcgaacatgTtatcagggagagctgcatgg	11	9	2	1	rs1464890	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr7:129664312T>C	ENST00000358303.4	-	7	895	c.811A>G	c.(811-813)Aca>Gca	p.T271A	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.T271A|RP11-306G20.1_ENST00000587038.1_RNA|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Intron|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.T250A	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	271			T -> A (in dbSNP:rs1464890). {ECO:0000269|PubMed:15489334}.		mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TGCGAACATGTTATCAGGGAG	0.468													T|||	2384	0.476038	0.1044	0.5648	5008	,	,		20638	0.6696		0.6054	False		,,,				2504	0.5828				p.T271A	Melanoma(115;540 1606 16325 28853 48167)	.											.	ZC3HC1-90	0			c.A811G						.	T	ALA/THR	761,3645	309.1+/-290.9	70,621,1512	70	64	66		811	-0.2	0.6	7	dbSNP_88	66	4803,3797	613.4+/-396.1	1359,2085,856	yes	missense	ZC3HC1	NM_016478.3	58	1429,2706,2368	CC,CT,TT		44.1512,17.2719,42.7803	benign	271/503	129664312	5564,7442	2203	4300	6503	SO:0001583	missense	51530	exon7			AACATGTTATCAG	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.811A>G	7.37:g.129664312T>C	ENSP00000351052:p.Thr271Ala	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_016478	0	0	20	20	0	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	1095	0.5013736263736264	57	0.11585365853658537	183	0.505524861878453	400	0.6993006993006993	455	0.600263852242744	T	7.909	0.735976	0.15574	0.172719	0.558488	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873	T;T;T	0.41065	1.01;1.01;1.01	5.48	-0.152	0.13407	Nuclear-interacting partner of ALK/Rsm1-like (1);	0.116818	0.56097	D	0.000024	T	0.00012	0.0000	L	0.28740	0.885	0.58432	P	1.0000000000287557E-6	B;B	0.13145	0.007;0.004	B;B	0.15870	0.013;0.014	T	0.42396	-0.9454	9	0.10636	T	0.68	-7.2062	2.4402	0.04492	0.1226:0.1454:0.1269:0.6051	rs1464890;rs17655281;rs17850755;rs52836288;rs56503566;rs56696306;rs1464890	271;271	Q86WB0-3;Q86WB0	.;NIPA_HUMAN	A	271;271;250	ENSP00000351052:T271A;ENSP00000353933:T271A;ENSP00000309301:T250A	ENSP00000309301:T250A	T	-	1	0	ZC3HC1	129451548	0.114000	0.22134	0.577000	0.28562	0.193000	0.23685	-0.271000	0.08572	0.344000	0.23847	0.460000	0.39030	ACA	A|0.003;C|0.460		0.468	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		C	129664312	T	C	129664312	3	2	11	1	0	0	0	0	1	0	0	0	17625	1725	60	4	713	4	ZC3HC1	7	129664312	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	30190466	129664312	29474351	39	2820											
TAS2R38	5726	bcgsc.ca	37	chr7	141672705	141672705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacagagatgaaggcaGcacaggatgatatcacaaag	14	7	1	3	rs1726866	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr7:141672705G>A	ENST00000547270.1	-	1	868	c.785C>T	c.(784-786)gCt>gTt	p.A262V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	262			A -> V (in dbSNP:rs1726866). {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15496549, ECO:0000269|Ref.6}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A262V(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GATGAAGGCAGCACAGGATGA	0.512													G|||	2131	0.425519	0.3328	0.2853	5008	,	,		20513	0.3244		0.5388	False		,,,				2504	0.638				p.A262V		.											.	TAS2R38-92	1	Substitution - Missense(1)	stomach(1)	c.C785T	GRCh37	CM031369	TAS2R38	M	rs1726866	.	G	VAL/ALA	1504,2902	479.7+/-358.6	257,990,956	65	64	64	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	785	2.9	0	7	dbSNP_89	64	4683,3917	603.1+/-394.6	1267,2149,884	yes	missense	TAS2R38	NM_176817.4	64	1524,3139,1840	AA,AG,GG		45.5465,34.1353,47.5704	benign	262/334	141672705	6187,6819	2203	4300	6503	SO:0001583	missense	5726	exon1			AAGGCAGCACAGG	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.785C>T	7.37:g.141672705G>A	ENSP00000448219:p.Ala262Val	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	207	6	NM_176817	0	0	0	0	0	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	892	0.4084249084249084	151	0.30691056910569103	123	0.3397790055248619	203	0.3548951048951049	415	0.5474934036939314	G	8.762	0.923749	0.18056	0.341353	0.544535	ENSG00000257138	ENST00000547270	T	0.37058	1.22	4.77	2.94	0.34122	.	0.359425	0.24122	N	0.041347	T	0.00012	0.0000	L	0.55990	1.75	0.80722	P	0.0	B	0.24092	0.097	B	0.30572	0.117	T	0.42103	-0.9471	9	0.56958	D	0.05	.	6.5818	0.22598	0.0973:0.182:0.7207:0.0	rs1726866;rs17712758;rs61111288;rs1726866	262	P59533	T2R38_HUMAN	V	262	ENSP00000448219:A262V	ENSP00000331291:A262V	A	-	2	0	TAS2R38	141319174	0.001000	0.12720	0.001000	0.08648	0.182000	0.23217	0.902000	0.28459	0.712000	0.32039	0.655000	0.94253	GCT	G|0.560;A|0.440		0.512	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		A	141672705	G	A	141672705	3	1	11	1	0	0	0	0	1	0	0	0	15622	971	34	3	220	3	TAS2R38	7	141672705	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	12008393	141672705	17465958	40	2821											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	3216707	3216707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtgcactccacacacGgcggcccccacccaggcagg	12	18	0	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr8:3216707G>A	ENST00000520002.1	-	22	3829	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6. {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)		CTCCACACACGGCGGCCCCCA	0.557																																					p.R1091C		.											.	CSMD1-86	0			c.C3271T						.						70	74	73					8																	3216707		2203	4300	6503	SO:0001583	missense	64478	exon21			ACACACGGCGGCC			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.3274C>T	8.37:g.3216707G>A	ENSP00000430733:p.Arg1092Cys	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	134	23	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.9|20.9	4.074273|4.074273	0.76415|0.76415	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.83096|0.83096	0.5180|0.5180	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.999;0.998	D|D	0.86677|0.86677	0.1914|0.1914	5|10	.|0.66056	.|D	.|0.02	.|.	13.9698|13.9698	0.64233|0.64233	0.0:0.0:0.8484:0.1516|0.0:0.0:0.8484:0.1516	.|.	.|1092;1092;1092	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	571|1092;1092;954;1091;1091;1091	.|ENSP00000383047:R1092C;ENSP00000430733:R1092C;ENSP00000441462:R1091C;ENSP00000446243:R1091C;ENSP00000441675:R1091C	.|ENSP00000320445:R954C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204114|3204114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.283000|4.283000	0.58977|0.58977	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGT	.		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3216707	G	A	3216707	3	1	11	1	0	0	0	0	1	0	0	0	3953	1116	39	1	7623	1	CSMD1	8	3216707	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		3216707	143147315	41	2822											
EGR3	1960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22548147	22548147	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgcccgcagaactcgcAggcaaagggcttctcgcccg	12	16	1	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr8:22548147A>T	ENST00000317216.2	-	2	1360	c.1003T>A	c.(1003-1005)Tgc>Agc	p.C335S	EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.C297S|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	335					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|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(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CAGAACTCGCAGGCAAAGGGC	0.632																																					p.C335S		.											.	EGR3-90	0			c.T1003A						.						68	64	65					8																	22548147		2203	4300	6503	SO:0001583	missense	1960	exon2			ACTCGCAGGCAAA	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1003T>A	8.37:g.22548147A>T	ENSP00000318057:p.Cys335Ser	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	313	123	NM_004430	0	0	0	0	0	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079252	0.76528	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	D;D	0.85171	-1.95;-1.95	5.62	5.62	0.85841	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	0.92925	0.7749	M	0.87682	2.9	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.87578	0.998;0.998	D	0.93975	0.7253	10	0.87932	D	0	-19.4663	13.7759	0.63053	1.0:0.0:0.0:0.0	.	297;335	E7EW38;Q06889	.;EGR3_HUMAN	S	335;297;176	ENSP00000318057:C335S;ENSP00000430310:C297S	ENSP00000318057:C335S	C	-	1	0	EGR3	22604092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.135000	0.66039	0.533000	0.62120	TGC	.		0.632	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		T	22548147	A	T	22548147	3	4	11	1	0	0	0	0	1	0	0	0	4987	188	7	5	164	5	EGR3	8	22548147	Missense_Mutation	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	19331440	22548147	123815875	42	2823											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998514	144998514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaggcgctcgttctcCgcctccttctccttgagcgc	10	19	2	1	rs75586449	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr8:144998514C>T	ENST00000322810.4	-	31	6163	c.5994G>A	c.(5992-5994)gcG>gcA	p.A1998A	PLEC_ENST00000357649.2_Silent_p.A1865A|PLEC_ENST00000354589.3_Silent_p.A1861A|PLEC_ENST00000436759.2_Silent_p.A1888A|PLEC_ENST00000354958.2_Silent_p.A1839A|PLEC_ENST00000356346.3_Silent_p.A1847A|PLEC_ENST00000398774.2_Silent_p.A1829A|PLEC_ENST00000345136.3_Silent_p.A1861A|PLEC_ENST00000527096.1_Silent_p.A1884A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1998	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGTTCTCCGCCTCCTTCT	0.726													T|||	349	0.0696885	0.0113	0.1412	5008	,	,		11250	0.0437		0.0358	False		,,,				2504	0.1595				p.A1998A		.											.	PLEC-141	0			c.G5994A						.	T	,,,,,,,	38,3548		0,38,1755	7	9	8		5664,5541,5517,5994,5487,5583,5595,5583	-5.2	0.8	8	dbSNP_131	8	272,7344		2,268,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	2,306,5293	TT,TC,CC		3.5714,1.0597,2.7674	,,,,,,,	1888/4575,1847/4534,1839/4526,1998/4685,1829/4516,1861/4548,1865/4552,1861/4548	144998514	310,10892	1793	3808	5601	SO:0001819	synonymous_variant	5339	exon31			GTTCTCCGCCTCC	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.5994G>A	8.37:g.144998514C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_201380	0	0	1	7	6	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.961;T|0.039		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998514	C	T	144998514	2	4	11	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998514	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	122450367	144998514	1365508	43	2824											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998793	144998793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccctcgccttgctggcCagcagcacctccatctcggc	9	19	2	0	rs186670912	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr8:144998793C>T	ENST00000322810.4	-	31	5884	c.5715G>A	c.(5713-5715)ctG>ctA	p.L1905L	PLEC_ENST00000357649.2_Silent_p.L1772L|PLEC_ENST00000354589.3_Silent_p.L1768L|PLEC_ENST00000436759.2_Silent_p.L1795L|PLEC_ENST00000354958.2_Silent_p.L1746L|PLEC_ENST00000356346.3_Silent_p.L1754L|PLEC_ENST00000398774.2_Silent_p.L1736L|PLEC_ENST00000345136.3_Silent_p.L1768L|PLEC_ENST00000527096.1_Silent_p.L1791L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1905	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTGCTGGCCAGCAGCACCT	0.711													C|||	14	0.00279553	8e-04	0.0101	5008	,	,		10968	0		0.005	False		,,,				2504	0.001				p.L1905L		.											.	PLEC-141	0			c.G5715A						.	C	,,,,,,,	6,3630		0,6,1812	3	3	3		5385,5262,5238,5715,5208,5304,5316,5304	4	1	8		3	21,7529		0,21,3754	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,27,5566	TT,TC,CC		0.2781,0.165,0.2414	,,,,,,,	1795/4575,1754/4534,1746/4526,1905/4685,1736/4516,1768/4548,1772/4552,1768/4548	144998793	27,11159	1818	3775	5593	SO:0001819	synonymous_variant	5339	exon31			GCTGGCCAGCAGC	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.5715G>A	8.37:g.144998793C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_201380	0	0	3	9	6	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.997;T|0.003		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998793	C	T	144998793	2	4	11	1	0	0	0	0	0	0	0	1	12091	581	21	3		3	PLEC	8	144998793	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	279	144998793	1365229	44	2825											
KIAA1045	23349	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	34976195	34976195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaaatgtatagcctcaCggagacctttcagcggtgta	13	8	2	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr9:34976195C>T	ENST00000242315.3	+	4	693	c.611C>T	c.(610-612)aCg>aTg	p.T204M	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.T204M	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	204							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TATAGCCTCACGGAGACCTTT	0.507																																					p.T204M		.											.	KIAA1045-69	0			c.C611T						.						100	101	101					9																	34976195		1916	4126	6042	SO:0001583	missense	23349	exon4			GCCTCACGGAGAC	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.611C>T	9.37:g.34976195C>T	ENSP00000242315:p.Thr204Met	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	79	22	NM_015297	0	0	0	0	0	B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	2.375	-0.343410	0.05243	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21932	1.98;1.98	5.2	1.78	0.24846	Zinc finger, FYVE/PHD-type (1);EF-hand-like domain (1);	0.233455	0.41396	N	0.000900	T	0.05777	0.0151	N	0.02247	-0.625	0.28377	N	0.919716	B	0.06786	0.001	B	0.04013	0.001	T	0.39375	-0.9617	10	0.06494	T	0.89	.	5.863	0.18759	0.0:0.3738:0.0:0.6262	.	204	Q9UPV7	K1045_HUMAN	M	204	ENSP00000444138:T204M;ENSP00000242315:T204M	ENSP00000242315:T204M	T	+	2	0	KIAA1045	34966195	1.000000	0.71417	0.437000	0.26809	0.955000	0.61496	2.109000	0.41863	0.195000	0.20347	-0.150000	0.13652	ACG	.		0.507	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		T	34976195	C	T	34976195	3	4	11	1	0	0	0	0	1	0	0	0	8234	536	19	1	621	1	KIAA1045	9	34976195	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		34976195	106237236	45	2826											
FRMPD1	22844	ucsc.edu;bcgsc.ca	37	chr9	37745413	37745413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacgtatttcaggaggaGtctaggaaggattcaggtga	13	6	3	1	rs3747541	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr9:37745413G>A	ENST00000539465.1	+	16	3977	c.3384G>A	c.(3382-3384)gaG>gaA	p.E1128E	FRMPD1_ENST00000377765.3_Silent_p.E1128E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1128						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCAGGAGGAGTCTAGGAAGG	0.428													A|||	1935	0.386382	0.5847	0.4193	5008	,	,		20725	0.2024		0.332	False		,,,				2504	0.3405				p.E1128E		.											.	FRMPD1-159	0			c.G3384A						.	A		2298,2108	576.3+/-384.2	614,1070,519	69	72	71		3384	-1.8	0	9	dbSNP_107	71	3005,5595	664.5+/-402.2	526,1953,1821	no	coding-synonymous	FRMPD1	NM_014907.2		1140,3023,2340	AA,AG,GG		34.9419,47.8438,40.7735		1128/1579	37745413	5303,7703	2203	4300	6503	SO:0001819	synonymous_variant	22844	exon16			GGAGGAGTCTAGG	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3384G>A	9.37:g.37745413G>A		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	65	6	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																			G|0.618;A|0.382		0.428	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		A	37745413	G	A	37745413	2	1	11	1	0	0	0	0	0	0	0	1	6081	1020	36	3		3	FRMPD1	9	37745413	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	2769218	37745413	103468018	46	2827											
SLC34A3	142680	hgsc.bcm.edu	37	chr9	140130532	140130532	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgttaccgctgggtggcTggggtctacctgctgctcgg	16	13	1	0	rs144666114	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr9:140130532T>C	ENST00000538474.1	+	13	1688	c.1464T>C	c.(1462-1464)gcT>gcC	p.A488A	SLC34A3_ENST00000361134.2_Silent_p.A488A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	488					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTGGGTGGCTGGGGTCTACC	0.716											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A488A		.											.	SLC34A3-90	0			c.T1464C						.	T	,,	2,4382		0,2,2190	43	35	37		1464,1464,1464	-2.5	0	9	dbSNP_134	37	8,8566		0,8,4279	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,10,6469	CC,CT,TT		0.0933,0.0456,0.0772	,,	488/600,488/600,488/600	140130532	10,12948	2192	4287	6479	SO:0001819	synonymous_variant	142680	exon13			GGTGGCTGGGGTC	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1464T>C	9.37:g.140130532T>C		Somatic	5	0	1654	WXS	Illumina GAIIx	Phase_I	72	4	NM_001177317	0	0	0	0	0	A2BFA1	Silent	SNP	ENST00000538474.1	37	CCDS7038.1																																																																																			T|1.000;C|0.000		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		C	140130532	T	C	140130532	2	2	11	1	0	0	0	0	0	0	0	1	14614	1567	55	4		4	SLC34A3	9	140130532	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	102385119	140130532	1082899	47	2828											
TUBB8	347688	broad.mit.edu	37	chr10	95170	95170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgatctgcgtgagcacgatCtccctcatggccaaggcggg	13	14	3	1	rs561104222	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr10:95170C>T	ENST00000309812.4	-	1	71	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Silent_p.E3E	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	3					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672													c|||	14	0.00279553	8e-04	0.0029	5008	,	,		14530	0		0.004	False		,,,				2504	0.0072				p.E3E	Pancreas(192;2041 3010 9013 18103)	.											.	TUBB8-69	0			c.G9A						.						18	16	17					10																	95170		2196	4294	6490	SO:0001819	synonymous_variant	347688	exon1			CACGATCTCCCTC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.9G>A	10.37:g.95170C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	176	11	NM_177987	0	0	0	0	0	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																			.		0.672	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	95170	C	T	95170	2	4	11	1	0	0	0	0	0	0	0	1	16810	912	32	3		3	TUBB8	10	95170	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		95170	135439577	48	2829											
MYO3A	53904	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	26357698	26357698	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattttattttattgcagaAtacagtctcagagcaacttg	6	6	1	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr10:26357698A>G	ENST00000265944.5	+	12	1221	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S	MYO3A_ENST00000543632.1_Splice_Site_p.N352S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	352	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTATTGCAGAATACAGTCTCA	0.333																																					p.N352S		.											.	MYO3A-1007	0			c.A1055G						.						85	79	81					10																	26357698		2203	4300	6503	SO:0001630	splice_region_variant	53904	exon12			TGCAGAATACAGT	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.1054-1A>G	10.37:g.26357698A>G		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	30	9	NM_017433	0	0	0	0	0	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894566	0.33442	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.86865	-0.52;-2.18	5.55	4.38	0.52667	Myosin head, motor domain (2);	0.087641	0.85682	D	0.000000	D	0.82628	0.5078	L	0.27975	0.815	0.54753	D	0.999989	B;B;B	0.32302	0.313;0.363;0.242	B;B;B	0.39935	0.124;0.183;0.314	T	0.80899	-0.1176	10	0.59425	D	0.04	.	12.5398	0.56163	0.8606:0.1394:0.0:0.0	.	352;352;352	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	352	ENSP00000265944:N352S;ENSP00000445909:N352S	ENSP00000265944:N352S	N	+	2	0	MYO3A	26397704	1.000000	0.71417	0.999000	0.59377	0.705000	0.40729	4.585000	0.60977	0.895000	0.36342	0.533000	0.62120	AAT	.		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	Missense_Mutation	G	26357698	A	G	26357698	5	3	11	1	0	0	0	0	0	0	1	0	10114	115	4	4	1093	4	MYO3A	10	26357698	Splice_Site	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	26262528	26357698	109177049	49	2830											
AGAP11	119385	bcgsc.ca	37	chr10	88768253	88768253	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacacacccacgcccAtttgcaagcagtccatgggc	8	17	0	0	rs2641563	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr10:88768253A>G	ENST00000444431.1	+	0	2853				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ACCCACGCCCATTTGCAAGCA	0.517													G|||	3962	0.791134	0.8585	0.7522	5008	,	,		17889	0.9325		0.7048	False		,,,				2504	0.6708				p.I82V		.											.	.	0			c.A244G						.	A	VAL/ILE	3640,728		1523,594,67	140	152	148		244	-0.3	0	10	dbSNP_100	148	5889,2701		1994,1901,400	no	missense	AGAP11	NM_133447.1	29	3517,2495,467	GG,GA,AA		31.4435,16.6667,26.4624	benign	82/551	88768253	9529,3429	2184	4295	6479			119385	exon12			ACGCCCATTTGCA			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768253A>G		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	215	10	NM_133447	0	0	1	1	0	B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37																																																																																				A|0.215;G|0.785		0.517	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		G	88768253	A	G	88768253	1	3	11	0	1	0	0	0	0	0	0	0	367	217	8	4		4	AGAP11	10	88768253	RNA	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	62410555	88768253	46766494	50	2831											
LGI1	9211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	95537350	95537350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttcaagacatactttccGgggactaaagtcattaattc	6	8	2	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr10:95537350G>T	ENST00000371418.4	+	4	667	c.407G>T	c.(406-408)cGg>cTg	p.R136L	LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Missense_Mutation_p.R136L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	136			R -> W (in ETL1). {ECO:0000269|PubMed:17562837}.		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)				CATACTTTCCGGGGACTAAAG	0.333																																					p.R136L		.											.	LGI1-517	0			c.G407T						.						70	64	66					10																	95537350		2201	4299	6500	SO:0001583	missense	9211	exon4			CTTTCCGGGGACT	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.407G>T	10.37:g.95537350G>T	ENSP00000360472:p.Arg136Leu	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	96	32	NM_005097	0	0	0	0	0	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762991	0.89932	.	.	ENSG00000108231	ENST00000371418;ENST00000371413	T;T	0.57273	0.41;0.41	6.07	6.07	0.98685	.	0.127889	0.50627	D	0.000103	T	0.66626	0.2808	L	0.38733	1.17	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.964	T	0.64063	-0.6495	10	0.51188	T	0.08	-9.9499	20.6593	0.99626	0.0:0.0:1.0:0.0	.	136;136	O95970-2;O95970	.;LGI1_HUMAN	L	136	ENSP00000360472:R136L;ENSP00000360467:R136L	ENSP00000360467:R136L	R	+	2	0	LGI1	95527340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.336000	0.72954	2.885000	0.99019	0.655000	0.94253	CGG	.		0.333	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		T	95537350	G	T	95537350	3	4	11	1	0	0	0	0	1	0	0	0	8780	1116	39	2	421	2	LGI1	10	95537350	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	6769097	95537350	39997397	51	2832											
CTBP2	1488	ucsc.edu	37	chr10	126715075	126715075	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcagaataggtggcTgccgtctccaggaggtgctg	17	10	1	1	rs3781413	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr10:126715075T>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Silent_p.A418A|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AATAGGTGGCTGCCGTCTCCA	0.687													C|||	609	0.121605	0.1074	0.2896	5008	,	,		13999	0.0456		0.1352	False		,,,				2504	0.0859				p.A418A		.											.	CTBP2-90	0			c.A1254G						.	C	,,	411,3985		17,377,1804	28	26	27		,,1254	-6	0	10	dbSNP_107	27	1080,7510		61,958,3276	no	intron,intron,coding-synonymous	CTBP2	NM_001083914.1,NM_001329.2,NM_022802.2	,,	78,1335,5080	CC,CT,TT		12.5728,9.3494,11.4816	,,	,,418/986	126715075	1491,11495	2198	4295	6493	SO:0001627	intron_variant	1488	exon1			GGTGGCTGCCGTC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12490A>G	10.37:g.126715075T>C		Somatic	12	2		WXS	Illumina GAIIx	Phase_I	43	23	NM_022802	0	0	0	0	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																			T|0.892;C|0.108		0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		C	126715075	T	C	126715075	1	2	11	0	1	0	0	0	0	0	0	0	4007	1567	55	4		4	CTBP2	10	126715075	Intron	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	31177725	126715075	8819672	52	2833											
MUC6	4588	bcgsc.ca	37	chr11	1017710	1017710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatggtgtgtggaggaagtGtgtgaatgtagggatgtaga	19	1	0	2	rs113964902		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:1017710G>T	ENST00000421673.2	-	31	5141	c.5091C>A	c.(5089-5091)caC>caA	p.H1697Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1697	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGGAAGTGTGTGAATGTA	0.552																																					p.H1697Q		.											.	MUC6-23	0			c.C5091A						.	T	GLN/HIS	175,4229	48.2+/-83.0	0,175,2027	827	810	816		5091	-2.9	0	11	dbSNP_132	816	52,8538	4.3+/-15.6	0,52,4243	yes	missense	MUC6	NM_005961.2	24	0,227,6270	TT,TG,GG		0.6054,3.9737,1.747	benign	1697/2440	1017710	227,12767	2202	4295	6497	SO:0001583	missense	4588	exon31			GGAAGTGTGTGAA	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.5091C>A	11.37:g.1017710G>T	ENSP00000406861:p.His1697Gln	Somatic	652	14		WXS	Illumina GAIIx	Phase_I	739	28	NM_005961	0	0	0	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.248714	0.00268	0.039737	0.006054	ENSG00000184956	ENST00000421673	T	0.18657	2.2	1.46	-2.91	0.05631	.	.	.	.	.	T	0.01320	0.0043	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13072	-1.0523	9	0.05525	T	0.97	.	3.8678	0.09024	0.2346:0.0:0.4719:0.2935	.	1697	Q6W4X9	MUC6_HUMAN	Q	1697	ENSP00000406861:H1697Q	ENSP00000406861:H1697Q	H	-	3	2	MUC6	1007710	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.346000	0.00038	-4.248000	0.00062	-3.681000	0.00024	CAC	G|0.500;T|0.500		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017710	G	T	1017710	3	4	11	1	0	0	0	0	1	0	0	0	10018	1368	48	3	2240	3	MUC6	11	1017710	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		1017710	133988806	53	2834											
OR52E6	390078	broad.mit.edu	37	chr11	5862278	5862278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggattgagggtgggaggaaCaaccacatatagattagcca	13	6	0	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:5862278C>A	ENST00000329322.5	-	1	849	c.850G>T	c.(850-852)Gtt>Ttt	p.V284F	OR52E6_ENST00000379946.2_Missense_Mutation_p.V288F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGAGGAACAACCACATAT	0.413																																					p.V284F		.											.	OR52E6-68	0			c.G850T						.						96	98	97					11																	5862278		2088	4251	6339	SO:0001583	missense	390078	exon1			GAGGAACAACCAC	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.850G>T	11.37:g.5862278C>A	ENSP00000328878:p.Val284Phe	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	127	5	NM_001005167	0	0	0	0	0	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	6.206	0.406197	0.11754	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00281	8.32;8.32	3.45	-0.983	0.10263	GPCR, rhodopsin-like superfamily (1);	0.291697	0.24089	N	0.041647	T	0.00178	0.0005	L	0.52573	1.65	0.09310	N	1	B	0.18610	0.029	B	0.27887	0.084	T	0.43261	-0.9402	10	0.40728	T	0.16	.	3.1582	0.06511	0.3148:0.411:0.0:0.2742	.	284	Q96RD3	O52E6_HUMAN	F	284;288	ENSP00000328878:V284F;ENSP00000369279:V288F	ENSP00000328878:V284F	V	-	1	0	OR52E6	5818854	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-3.909000	0.00337	-0.491000	0.06697	0.551000	0.68910	GTT	.		0.413	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		A	5862278	C	A	5862278	3	1	11	1	0	0	0	0	1	0	0	0	11156	478	17	3	93	3	OR52E6	11	5862278	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	4844568	5862278	129144238	54	2835											
DNHD1	144132	broad.mit.edu	37	chr11	6569896	6569896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacggctcttgtatgtgGtggacctgcttctgtcaggg	14	9	3	1	rs11606889	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:6569896G>A	ENST00000527990.2	+	22	7120	c.7120G>A	c.(7120-7122)Gtg>Atg	p.V2374M	DNHD1_ENST00000254579.6_Missense_Mutation_p.V2374M			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2374					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGTATGTGGTGGACCTGCT	0.522													G|||	636	0.126997	0.0832	0.1729	5008	,	,		19672	0.0228		0.1829	False		,,,				2504	0.2035				p.V2374M		.											.	DNHD1-24	0			c.G7120A						.	G	MET/VAL	136,1248		8,120,564	59	52	54		7120	4.9	1	11	dbSNP_120	54	619,2563		51,517,1023	yes	missense	DNHD1	NM_144666.2	21	59,637,1587	AA,AG,GG		19.4532,9.8266,16.5353	probably-damaging	2374/4754	6569896	755,3811	692	1591	2283	SO:0001583	missense	144132	exon24			TATGTGGTGGACC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7120G>A	11.37:g.6569896G>A	ENSP00000436180:p.Val2374Met	Somatic	60	1		WXS	Illumina GAIIx	Phase_I	47	3	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	253	0.11584249084249085	47	0.09552845528455285	50	0.13812154696132597	18	0.03146853146853147	138	0.1820580474934037	G	15.97	2.988476	0.53934	0.098266	0.194532	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.29397	1.57;1.57	5.96	4.95	0.65309	.	.	.	.	.	T	0.00039	0.0001	N	0.14661	0.345	0.39708	P	0.028714000000000017	D	0.63046	0.992	P	0.58077	0.832	T	0.06006	-1.0851	8	0.22706	T	0.39	.	9.6269	0.39757	0.1245:0.0:0.8755:0.0	rs11606889;rs58131910;rs11606889	2374	Q96M86	DNHD1_HUMAN	M	2374	ENSP00000254579:V2374M;ENSP00000436180:V2374M	ENSP00000254579:V2374M	V	+	1	0	DNHD1	6526472	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.820000	0.39032	2.813000	0.96785	0.655000	0.94253	GTG	G|0.887;A|0.113		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6569896	G	A	6569896	3	1	11	1	0	0	0	0	1	0	0	0	4682	1261	44	3	7215	3	DNHD1	11	6569896	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	707618	6569896	128436620	55	2836											
SAA4	6291	broad.mit.edu	37	chr11	18257405	18257405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcctccttgaaaaaCgaacgccagctttcactggt	10	11	1	2	rs371977487		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:18257405C>A	ENST00000278222.4	-	2	249	c.69G>T	c.(67-69)tcG>tcT	p.S23S	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	23					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						CCTTGAAAAACGAACGCCAGC	0.507																																					p.S101S		.											.	.	0			c.G303T						.						129	126	127					11																	18257405		2199	4293	6492	SO:0001819	synonymous_variant	100528017	exon4			GAAAAACGAACGC	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.69G>T	11.37:g.18257405C>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	120	5	NM_001199744	0	0	2	2	0	Q6FHJ4	Silent	SNP	ENST00000278222.4	37	CCDS7832.1																																																																																			.		0.507	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		A	18257405	C	A	18257405	2	1	11	1	0	0	0	0	0	0	0	1	13845	523	19	2		2	SAA4	11	18257405	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	11687509	18257405	116749111	56	2837											
ODZ4	26011	bcgsc.ca	37	chr11	78372536	78372536	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttcatctgtgtgtggatGagctcgtaggagggttccat	14	6	2	1	rs2277277	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:78372536G>A	ENST00000278550.7	-	33	7971	c.7509C>T	c.(7507-7509)ctC>ctT	p.L2503L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2503					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)										GTGTGTGGATGAGCTCGTAGG	0.527													G|||	1909	0.38119	0.2685	0.428	5008	,	,		20745	0.1895		0.672	False		,,,				2504	0.3988				p.L2503L		.											.	.	0			c.C7509T						.	G		1244,2778		199,846,966	100	96	98		7509	-0.9	0.3	11	dbSNP_100	98	5556,2786		1847,1862,462	no	coding-synonymous	ODZ4	NM_001098816.2		2046,2708,1428	AA,AG,GG		33.3973,30.9299,45.0016		2503/2770	78372536	6800,5564	2011	4171	6182	SO:0001819	synonymous_variant	26011	exon33			GTGGATGAGCTCG	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.7509C>T	11.37:g.78372536G>A		Somatic	195	2		WXS	Illumina GAIIx	Phase_I	194	8	NM_001098816	0	0	1	1	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																			G|0.593;A|0.407		0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78372536	G	A	78372536	2	1	11	1	0	0	0	0	0	0	0	1	10876	1277	45	3		3	ODZ4	11	78372536	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	60115131	78372536	56633980	57	2838											
MTMR2	8898	hgsc.bcm.edu	37	chr11	95595266	95595434	+	Splice_Site	DEL	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	-													atctaaaacaaatgggggatCctaaagaaggaaagaaaaaa					rs369202429|rs150185868|rs200895250|rs376231827|rs185263209|rs371629162|rs193209339|rs571113024|rs200148660|rs566995379|rs116463605	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:95595266_95595434delCCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	ENST00000346299.5	-	5	698	c.358delTAAGAGTCAGATTAGATTTTTGTATGTACATGAGTGTGTTGTTTGTAGCTAGTTTTGTTCATTTCTGATCATTTCTAATTAAAGCATTTCTGATTAAGATTTTGATCAGCTCTATAATTGGACAGTATTAATTGCTCAGTTTTAATTATTTTTTCTTTCCTTCTTTAGG	c.(358-360)taa>aa	p.*120fs	MTMR2_ENST00000393223.3_Splice_Site_p.*48fs|MTMR2_ENST00000352297.7_Splice_Site_p.*48fs|MTMR2_ENST00000409459.1_Splice_Site_p.*48fs|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	120	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATGGGGGATCCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTACCCGTTCCAT	0.341																																					p.120_120del		.											.	MTMR2-91	0			c.358_358del						.																																			SO:0001630	splice_region_variant	8898	exon5			GGGGATCCTAAAG	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.358-1TAAGAGTCAGATTAGATTTTTGTATGTACATGAGTGTGTTGTTTGTAGCTAGTTTTGTTCATTTCTGATCATTTCTAATTAAAGCATTTCTGATTAAGATTTTGATCAGCTCTATAATTGGACAGTATTAATTGCTCAGTTTTAATTATTTTTTCTTTCCTTCTTTAGG>-	11.37:g.95595266_95595434delCCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	31	0	NM_016156	0	0	0	0	0	A6NN98|Q9UPS9	Frame_Shift_Del	DEL	ENST00000346299.5	37	CCDS8305.1																																																																																			.		0.341	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156	Frame_Shift_Del	-	95595434	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	-	95595266	8	5	11	1	0	1	0	1	0	0	1	0	9982	869	30	0	1617	0	MTMR2	11	95595266	Splice_Site	DEL	CCTAAAGAAGGAAAGAAAAAATAATTAAAACTGAGCAATTAATACTGTCCAATTATAGAGCTGATCAAAATCTTAATCAGAAATGCTTTAATTAGAAATGATCAGAAATGAACAAAACTAGCTACAAACAACACACTCATGTACATACAAAAATCTAATCTGACTCTTA	TCGA-OR-A5JC-01A-11D-A29I-10	17222730	95595266	39411250	58	2839											
ZC3H12C	85463	bcgsc.ca	37	chr11	110035301	110035301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatccaagcataaggacAcaagtctaccaagacctaga	7	11	2	3	rs1026607	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr11:110035301A>G	ENST00000278590.3	+	6	1542	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	ZC3H12C_ENST00000453089.2_Silent_p.T466T|ZC3H12C_ENST00000528673.1_Silent_p.T498T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	497							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCATAAGGACACAAGTCTACC	0.448													G|||	1222	0.24401	0.3041	0.2248	5008	,	,		23059	0.2004		0.2724	False		,,,				2504	0.1922				p.T497T		.											.	ZC3H12C-68	0			c.A1491G						.	G		1098,2738		170,758,990	108	105	106		1491	-1.1	0.9	11	dbSNP_86	106	2086,6162		248,1590,2286	no	coding-synonymous	ZC3H12C	NM_033390.1		418,2348,3276	GG,GA,AA		25.291,28.6236,26.3489		497/884	110035301	3184,8900	1918	4124	6042	SO:0001819	synonymous_variant	85463	exon6			AAGGACACAAGTC		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1491A>G	11.37:g.110035301A>G		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_033390	0	0	1	1	0	B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	CCDS44727.1																																																																																			A|0.729;G|0.271		0.448	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		G	110035301	A	G	110035301	2	3	11	1	0	0	0	0	0	0	0	1	17611	146	6	4		4	ZC3H12C	11	110035301	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	14440035	110035301	24971215	59	2840											
PA2G4	5036	broad.mit.edu;bcgsc.ca	37	chr12	56504205	56504205	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaccatgaaaaagctgaaTttgaggtacatgaagtatat	10	4	0	4			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr12:56504205T>A	ENST00000303305.6	+	8	1071	c.652T>A	c.(652-654)Ttt>Att	p.F218I	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.F218I	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	218					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)			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)			AAAAGCTGAATTTGAGGTACA	0.448																																					p.F218I		.											.	PA2G4-68	0			c.T652A						.						84	80	81					12																	56504205		2203	4300	6503	SO:0001583	missense	5036	exon8			GCTGAATTTGAGG	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.652T>A	12.37:g.56504205T>A	ENSP00000302886:p.Phe218Ile	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	251	11	NM_006191	0	0	175	178	3	O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893886	0.91889	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	T;T	0.74947	-0.89;-0.89	5.07	5.07	0.68467	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.67569	2.06	0.80722	D	1	D;P;D	0.63046	0.992;0.929;0.99	P;P;P	0.60415	0.846;0.746;0.874	T	0.82388	-0.0482	10	0.42905	T	0.14	.	14.1085	0.65107	0.0:0.0:0.0:1.0	.	218;218;218	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	I	218;218;247;218;218	ENSP00000302886:F218I;ENSP00000448557:F218I	ENSP00000302886:F218I	F	+	1	0	PA2G4	54790472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.040000	0.60383	0.477000	0.44152	TTT	.		0.448	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		A	56504205	T	A	56504205	3	1	11	1	0	0	0	0	1	0	0	0	11400	1493	52	5	682	5	PA2G4	12	56504205	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		56504205	77347690	60	2841											
CCDC62	84660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123273380	123273380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgctagagcatgccctaCgtgatgccaagatggcggag	13	9	0	3			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr12:123273380C>T	ENST00000253079.6	+	5	918	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.R192C	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	192					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)		GCATGCCCTACGTGATGCCAA	0.348																																					p.R192C		.											.	CCDC62-157	0			c.C574T						.						112	109	110					12																	123273380		2203	4300	6503	SO:0001583	missense	84660	exon5			GCCCTACGTGATG		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.574C>T	12.37:g.123273380C>T	ENSP00000253079:p.Arg192Cys	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	176	46	NM_201435	0	0	0	0	0	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887280	0.33348	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.33654	1.4;1.4	5.7	3.88	0.44766	.	0.402843	0.22458	N	0.059783	T	0.23249	0.0562	L	0.39633	1.23	0.18873	N	0.999985	P;B	0.41929	0.765;0.432	B;B	0.31191	0.125;0.076	T	0.24693	-1.0153	10	0.72032	D	0.01	-8.5828	7.9179	0.29829	0.0:0.8189:0.0:0.1811	.	192;192	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	C	192	ENSP00000253079:R192C;ENSP00000376236:R192C	ENSP00000253079:R192C	R	+	1	0	CCDC62	121839333	0.029000	0.19370	0.016000	0.15963	0.041000	0.13682	1.236000	0.32683	1.422000	0.47177	0.655000	0.94253	CGT	.		0.348	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		T	123273380	C	T	123273380	3	4	11	1	0	0	0	0	1	0	0	0	2840	536	19	1	592	1	CCDC62	12	123273380	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	66769175	123273380	10578515	61	2842											
NCOR2	9612	ucsc.edu	37	chr12	124856618	124856618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtctgcactgcaggtAgcactggagtcgctgtcctg	12	13	1	0	rs7961196	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr12:124856618A>G	ENST00000405201.1	-	20	2757	c.2757T>C	c.(2755-2757)gcT>gcC	p.A919A	NCOR2_ENST00000404121.2_Silent_p.A472A|NCOR2_ENST00000397355.1_Silent_p.A902A|NCOR2_ENST00000404621.1_Silent_p.A901A|NCOR2_ENST00000429285.2_Silent_p.A901A|NCOR2_ENST00000356219.3_Silent_p.A919A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	919					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)		CACTGCAGGTAGCACTGGAGT	0.677													G|||	1578	0.315096	0.4728	0.2709	5008	,	,		13115	0.0843		0.34	False		,,,				2504	0.3456				p.A919A		.											.	NCOR2-229	0			c.T2757C						.	G	,,	1791,2433		394,1003,715	34	43	40		2703,2703,2757	4	1	12	dbSNP_116	40	2793,5671		480,1833,1919	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	874,2836,2634	GG,GA,AA		32.9986,42.4006,36.1286	,,	901/2459,901/2505,919/2515	124856618	4584,8104	2112	4232	6344	SO:0001819	synonymous_variant	9612	exon22			GCAGGTAGCACTG	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.2757T>C	12.37:g.124856618A>G		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	58	28	NM_006312	0	0	1	3	2	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																			A|0.698;G|0.302		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		G	124856618	A	G	124856618	2	3	11	1	0	0	0	0	0	0	0	1	10275	407	15	4		4	NCOR2	12	124856618	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	1583238	124856618	8995277	62	2843											
PABPC3	5042	bcgsc.ca	37	chr13	25671122	25671122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatggaaaacaaatttaCgttggtcgagctcagaaaaa	8	7	2	1	rs79072440		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr13:25671122C>T	ENST00000281589.3	+	1	823	c.786C>T	c.(784-786)taC>taT	p.Y262Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	262	RRM 3. {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)			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)		AACAAATTTACGTTGGTCGAG	0.408																																					p.Y262Y		.											.	PABPC3-72	0			c.C786T						.																																			SO:0001819	synonymous_variant	5042	exon1			AATTTACGTTGGT	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.786C>T	13.37:g.25671122C>T		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	125	7	NM_030979	0	0	0	265	265	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																			C|0.999;T|0.001		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671122	C	T	25671122	2	4	11	1	0	0	0	0	0	0	0	1	11404	547	19	1		1	PABPC3	13	25671122	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		25671122	89498756	63	2844											
OR4N2	390429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	20295677	20295677	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacccagtctcaagatattCagctcctggtctttgtgcta	8	11	3	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:20295677C>G	ENST00000315947.1	+	1	70	c.70C>G	c.(70-72)Cag>Gag	p.Q24E	OR4N2_ENST00000568211.1_Missense_Mutation_p.Q24E	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	24						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)		TCAAGATATTCAGCTCCTGGT	0.428																																					p.Q24E		.											.	OR4N2-71	0			c.C70G						.						163	181	175					14																	20295677		2203	4300	6503	SO:0001583	missense	390429	exon1			GATATTCAGCTCC		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.70C>G	14.37:g.20295677C>G	ENSP00000319601:p.Gln24Glu	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	356	37	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.388684	0.42308	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00593	6.34;6.34	4.41	4.41	0.53225	.	0.000000	0.46145	D	0.000319	T	0.00906	0.0030	L	0.54863	1.705	0.19300	N	0.99997	P	0.40250	0.709	B	0.40066	0.318	T	0.54417	-0.8297	10	0.45353	T	0.12	-8.0218	14.8767	0.70498	0.0:1.0:0.0:0.0	.	24	Q8NGD1	OR4N2_HUMAN	E	24	ENSP00000452022:Q24E;ENSP00000319601:Q24E	ENSP00000319601:Q24E	Q	+	1	0	OR4N2	19365517	0.070000	0.21116	0.962000	0.40283	0.975000	0.68041	1.774000	0.38573	2.431000	0.82371	0.591000	0.81541	CAG	.		0.428	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20295677	C	G	20295677	3	3	11	1	0	0	0	0	1	0	0	0	11116	827	29	3	72	3	OR4N2	14	20295677	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		20295677	87053863	64	2845			1	4		5	5	186	C		5.786523e-15
OR4N2	390429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	20295722	20295722	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taatattctacttcatcatcCtccctggaaattttctcatt	2	11	4	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:20295722C>G	ENST00000315947.1	+	1	115	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	OR4N2_ENST00000568211.1_Missense_Mutation_p.L39V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L39I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCATCATCCTCCCTGGAAA	0.443																																					p.L39V		.											.	OR4N2-71	1	Substitution - Missense(1)	lung(1)	c.C115G						.						189	217	208					14																	20295722		2203	4300	6503	SO:0001583	missense	390429	exon1			ATCATCCTCCCTG		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.115C>G	14.37:g.20295722C>G	ENSP00000319601:p.Leu39Val	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	260	30	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.710653	0.00712	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00540	6.7;6.7	4.3	2.27	0.28462	.	0.000000	0.39687	N	0.001282	T	0.00300	0.0009	N	0.12961	0.28	0.25209	N	0.99	B	0.20368	0.044	B	0.17722	0.019	T	0.44314	-0.9336	10	0.02654	T	1	-21.3552	6.2762	0.20981	0.1835:0.7073:0.0:0.1091	.	39	Q8NGD1	OR4N2_HUMAN	V	39	ENSP00000452022:L39V;ENSP00000319601:L39V	ENSP00000319601:L39V	L	+	1	0	OR4N2	19365562	0.000000	0.05858	1.000000	0.80357	0.561000	0.35649	-2.801000	0.00761	1.114000	0.41781	0.591000	0.81541	CTC	.		0.443	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20295722	C	G	20295722	3	3	11	1	0	0	0	0	1	0	0	0	11116	681	24	3	117	3	OR4N2	14	20295722	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	45	20295722	87053818	65	2846			1	4		5	5	186	C		5.786523e-15
OR4N2	390429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20295790	20295790	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcacagcccccctctatttCtttctgggcaacttggcctt	6	16	4	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:20295790C>G	ENST00000315947.1	+	1	183	c.183C>G	c.(181-183)ttC>ttG	p.F61L	OR4N2_ENST00000568211.1_Missense_Mutation_p.F61L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CCCTCTATTTCTTTCTGGGCA	0.458																																					p.F61L		.											.	OR4N2-71	0			c.C183G						.						170	204	193					14																	20295790		2203	4298	6501	SO:0001583	missense	390429	exon1			CTATTTCTTTCTG		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.183C>G	14.37:g.20295790C>G	ENSP00000319601:p.Phe61Leu	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	213	30	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.152290	0.38021	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00269	8.37;8.37	4.3	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.00241	0.0007	M	0.78344	2.41	0.26558	N	0.973789	B	0.14805	0.011	B	0.21151	0.033	T	0.27054	-1.0085	10	0.62326	D	0.03	-25.2342	9.9085	0.41390	0.0:0.8955:0.0:0.1045	.	61	Q8NGD1	OR4N2_HUMAN	L	61	ENSP00000452022:F61L;ENSP00000319601:F61L	ENSP00000319601:F61L	F	+	3	2	OR4N2	19365630	0.014000	0.17966	1.000000	0.80357	0.892000	0.51952	-0.409000	0.07160	2.374000	0.81015	0.591000	0.81541	TTC	.		0.458	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20295790	C	G	20295790	3	3	11	1	0	0	0	0	1	0	0	0	11116	912	32	3	185	3	OR4N2	14	20295790	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	68	20295790	87053750	66	2847			1	4		5	5	186	C		5.786523e-15
OR4N2	390429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	20295819	20295819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacttggccttcctggatgCatcctactccttcattgtgg	8	13	1	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:20295819C>G	ENST00000315947.1	+	1	212	c.212C>G	c.(211-213)gCa>gGa	p.A71G	OR4N2_ENST00000568211.1_Missense_Mutation_p.A71G	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTGGATGCATCCTACTCC	0.488																																					p.A71G		.											.	OR4N2-71	0			c.C212G						.						159	187	178					14																	20295819		2203	4297	6500	SO:0001583	missense	390429	exon1			TGGATGCATCCTA		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.212C>G	14.37:g.20295819C>G	ENSP00000319601:p.Ala71Gly	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	240	26	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738335	0.49045	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.03065	4.06;4.06	4.3	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000184	T	0.04182	0.0116	L	0.55017	1.72	0.25792	N	0.984606	B	0.34264	0.446	B	0.32677	0.15	T	0.27468	-1.0073	10	0.54805	T	0.06	-9.1401	5.8767	0.18832	0.0:0.7889:0.0:0.2111	.	71	Q8NGD1	OR4N2_HUMAN	G	71	ENSP00000452022:A71G;ENSP00000319601:A71G	ENSP00000319601:A71G	A	+	2	0	OR4N2	19365659	0.166000	0.22962	0.999000	0.59377	0.930000	0.56654	3.535000	0.53575	2.374000	0.81015	0.591000	0.81541	GCA	.		0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20295819	C	G	20295819	3	3	11	1	0	0	0	0	1	0	0	0	11116	710	25	3	214	3	OR4N2	14	20295819	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	29	20295819	87053721	67	2848			1	4		5	5	186	C		5.786523e-15
OR4N2	390429	hgsc.bcm.edu;bcgsc.ca	37	chr14	20295862	20295862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccggatgttggtggacttCctctctgcgaagaagataat	11	10	1	2	rs139052676	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:20295862C>T	ENST00000315947.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR4N2_ENST00000568211.1_Silent_p.F85F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	85						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)		TGGTGGACTTCCTCTCTGCGA	0.527																																					p.F85F		.											.	OR4N2-71	0			c.C255T						.						148	168	161					14																	20295862		2203	4300	6503	SO:0001819	synonymous_variant	390429	exon1			GGACTTCCTCTCT		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.255C>T	14.37:g.20295862C>T		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	232	15	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	CCDS32022.1																																																																																			C|1.000;G|0.000		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20295862	C	T	20295862	2	4	11	1	0	0	0	0	0	0	0	1	11116	854	30	3		3	OR4N2	14	20295862	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	43	20295862	87053678	68	2849			1	4		5	5	186	C		5.786523e-15
C14orf93	60686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	23456429	23456429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttggctgtagattttattCatccttttccaccttgattt	5	9	2	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:23456429C>T	ENST00000299088.6	-	7	2041	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	C14orf93_ENST00000341470.4_Missense_Mutation_p.E498K|C14orf93_ENST00000406429.2_Missense_Mutation_p.E498K|C14orf93_ENST00000397377.1_Missense_Mutation_p.E358K|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.E538K|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.E538K	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	538						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AGATTTTATTCATCCTTTTCC	0.468											OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E538K		.											.	C14orf93-91	0			c.G1612A						.						49	46	47					14																	23456429		2203	4300	6503	SO:0001583	missense	60686	exon7			TTTATTCATCCTT	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1612G>A	14.37:g.23456429C>T	ENSP00000299088:p.Glu538Lys	Somatic	83	0	763	WXS	Illumina GAIIx	Phase_I	111	14	NM_021944	0	0	2	2	0	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656471	0.88154	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000008	T	0.56171	0.1967	N	0.08118	0	0.41503	D	0.988299	D;D	0.67145	0.996;0.996	D;D	0.77557	0.987;0.99	T	0.66709	-0.5855	10	0.87932	D	0	-29.2612	18.5341	0.91002	0.0:1.0:0.0:0.0	.	538;498	Q9H972;Q9H972-2	CN093_HUMAN;.	K	538;498;538;538;358;498	ENSP00000299088:E538K;ENSP00000341353:E498K;ENSP00000380535:E538K;ENSP00000380538:E538K;ENSP00000380533:E358K;ENSP00000384768:E498K	ENSP00000299088:E538K	E	-	1	0	C14orf93	22526269	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.659000	0.54489	2.676000	0.91093	0.561000	0.74099	GAA	.		0.468	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		T	23456429	C	T	23456429	3	4	11	1	0	0	0	0	1	0	0	0	1787	835	29	3	8	3	C14orf93	14	23456429	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	3160567	23456429	83893111	69	2850											
ADCY4	196883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24799400	24799400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcacatgtccaggccCatgcgcacgcagttgatggc	13	15	0	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:24799400C>A	ENST00000310677.4	-	8	1145	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Missense_Mutation_p.M344I|ADCY4_ENST00000418030.2_Missense_Mutation_p.M344I|ADCY4_ENST00000558563.1_5'Flank	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	344					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)		TGTCCAGGCCCATGCGCACGC	0.597																																					p.M344I		.											.	ADCY4-93	0			c.G1032T						.						111	85	94					14																	24799400		2203	4300	6503	SO:0001583	missense	196883	exon8			CAGGCCCATGCGC	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.1032G>T	14.37:g.24799400C>A	ENSP00000312126:p.Met344Ile	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	127	22	NM_001198592	0	0	2	2	0	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044560	0.93685	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.81247	-1.47;-1.47;-1.47	5.01	5.01	0.66863	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000009	D	0.90393	0.6993	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91737	0.5401	10	0.87932	D	0	.	15.8497	0.78921	0.0:1.0:0.0:0.0	.	344	Q8NFM4	ADCY4_HUMAN	I	344	ENSP00000312126:M344I;ENSP00000452250:M344I;ENSP00000393177:M344I	ENSP00000312126:M344I	M	-	3	0	ADCY4	23869240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.612000	0.88384	0.561000	0.74099	ATG	.		0.597	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24799400	C	A	24799400	3	1	11	1	0	0	0	0	1	0	0	0	296	594	21	3	2277	3	ADCY4	14	24799400	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	1342971	24799400	82550140	70	2851											
INSM2	84684	broad.mit.edu	37	chr14	36004658	36004658	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccaccgctgcctcagggCccctacacggagggggtgtt	15	14	1	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:36004658C>A	ENST00000307169.3	+	1	1411	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	400					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)			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)		TGCCTCAGGGCCCCTACACGG	0.682																																					p.G400G		.											.	INSM2-226	0			c.C1200A						.						24	30	28					14																	36004658		2160	4279	6439	SO:0001819	synonymous_variant	84684	exon1			TCAGGGCCCCTAC	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.1200C>A	14.37:g.36004658C>A		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	76	7	NM_032594	0	0	0	0	0	A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	CCDS9657.1																																																																																			.		0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			A	36004658	C	A	36004658	2	1	11	1	0	0	0	0	0	0	0	1	7799	726	26	3		3	INSM2	14	36004658	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	11205258	36004658	71344882	71	2852											
PRPF39	55015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45564512	45564512	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggcaacagttcagaggtaGtggtagaacatcctactgat	11	8	1	3			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:45564512G>C	ENST00000355765.6	+	2	240	c.70G>C	c.(70-72)Gtg>Ctg	p.V24L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	24					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTCAGAGGTAGTGGTAGAACA	0.398																																					p.V24L		.											.	PRPF39-70	0			c.G70C						.						129	127	128					14																	45564512		1968	4159	6127	SO:0001583	missense	55015	exon2			GAGGTAGTGGTAG	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.70G>C	14.37:g.45564512G>C	ENSP00000348010:p.Val24Leu	Somatic	226	0		WXS	Illumina GAIIx	Phase_I	239	50	NM_017922	0	0	0	0	0	Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	5.874	0.345363	0.11126	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T	0.43688	0.94	5.35	4.45	0.53987	.	.	.	.	.	T	0.29126	0.0724	N	0.22421	0.69	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.15435	-1.0437	9	0.27785	T	0.31	-11.7116	10.9063	0.47081	0.0885:0.0:0.9115:0.0	.	24	Q86UA1	PRP39_HUMAN	L	24	ENSP00000348010:V24L	ENSP00000348010:V24L	V	+	1	0	PRPF39	44634262	0.978000	0.34361	0.744000	0.31058	0.977000	0.68977	1.681000	0.37618	1.250000	0.43966	0.491000	0.48974	GTG	.		0.398	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			C	45564512	G	C	45564512	3	2	11	1	0	0	0	0	1	0	0	0	12611	1029	36	3	72	3	PRPF39	14	45564512	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	9559854	45564512	61785028	72	2853											
PRKCH	5583	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	61917623	61917623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatccacaactacaaagtgCcaacattctgcgatcactgt	6	13	2	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:61917623C>G	ENST00000332981.5	+	6	1151	c.766C>G	c.(766-768)Cca>Gca	p.P256A	PRKCH_ENST00000555082.1_Missense_Mutation_p.P95A	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	256					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTACAAAGTGCCAACATTCTG	0.463																																					p.P256A	Melanoma(135;863 1779 8064 14443 26348)	.											.	PRKCH-1063	0			c.C766G						.						175	139	151					14																	61917623		2203	4300	6503	SO:0001583	missense	5583	exon6			AAAGTGCCAACAT	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.766C>G	14.37:g.61917623C>G	ENSP00000329127:p.Pro256Ala	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	150	24	NM_006255	0	0	0	0	0	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483722	0.96307	.	.	ENSG00000027075	ENST00000556778;ENST00000332981;ENST00000555082;ENST00000557585;ENST00000557473	D;D;D;T;D	0.93488	-3.23;-3.23;-3.23;1.12;-1.99	5.79	5.79	0.91817	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.179300	0.39544	N	0.001331	D	0.97173	0.9076	M	0.88570	2.965	0.80722	D	1	D	0.53619	0.961	D	0.63703	0.917	D	0.96949	0.9693	10	0.56958	D	0.05	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	256	P24723	KPCL_HUMAN	A	95;256;95;95;95	ENSP00000452055:P95A;ENSP00000329127:P256A;ENSP00000450981:P95A;ENSP00000451930:P95A;ENSP00000452528:P95A	ENSP00000329127:P256A	P	+	1	0	PRKCH	60987376	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.794000	0.85869	2.762000	0.94881	0.579000	0.79373	CCA	.		0.463	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		G	61917623	C	G	61917623	3	3	11	1	0	0	0	0	1	0	0	0	12555	739	26	3	788	3	PRKCH	14	61917623	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	16353111	61917623	45431917	73	2854											
WDR25	79446	bcgsc.ca	37	chr14	100996312	100996312	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgtcggcaccacctaTcaccccgtgctgccctccgt	9	19	1	0	rs13065	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr14:100996312T>C	ENST00000335290.6	+	7	1795	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	WDR25_ENST00000402312.3_Silent_p.Y523Y|WDR25_ENST00000554998.1_Silent_p.Y523Y|WDR25_ENST00000542471.2_Silent_p.Y266Y|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	523										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCACCACCTATCACCCCGTGC	0.642													C|||	3212	0.641374	0.9705	0.611	5008	,	,		19149	0.6974		0.4155	False		,,,				2504	0.3926				p.Y523Y		.											.	WDR25-90	0			c.T1569C						.	C	,	3873,533	242.1+/-252.3	1710,453,40	82	75	77		1569,1569	0.8	1	14	dbSNP_52	77	3368,5232	640.7+/-399.6	670,2028,1602	no	coding-synonymous,coding-synonymous	WDR25	NM_001161476.1,NM_024515.4	,	2380,2481,1642	CC,CT,TT		39.1628,12.0971,44.3257	,	523/545,523/545	100996312	7241,5765	2203	4300	6503	SO:0001819	synonymous_variant	79446	exon7			CACCTATCACCCC	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1569T>C	14.37:g.100996312T>C		Somatic	89	1		WXS	Illumina GAIIx	Phase_I	200	7	NM_001161476	0	0	23	23	0	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	CCDS32157.1																																																																																			T|0.409;C|0.591		0.642	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		C	100996312	T	C	100996312	2	2	11	1	0	0	0	0	0	0	0	1	17331	1442	50	4		4	WDR25	14	100996312	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	39078689	100996312	6353228	74	2855											
SPTBN5	51332	broad.mit.edu	37	chr15	42167249	42167249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccagctgctccttTgcatcctgggagggacgcat	12	13	0	0	rs62002142	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr15:42167249T>C	ENST00000320955.6	-	23	4520	c.4293A>G	c.(4291-4293)gcA>gcG	p.A1431A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1431					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)		GCTGCTCCTTTGCATCCTGGG	0.602													t|||	12	0.00239617	8e-04	0.0029	5008	,	,		19372	0		0.005	False		,,,				2504	0.0041				p.A1396A		.											.	SPTBN5-91	0			c.A4188G						.	T		4,4022		0,4,2009	22	24	23		4188	2.1	0	15	dbSNP_129	23	44,8312		0,44,4134	no	coding-synonymous	SPTBN5	NM_016642.2		0,48,6143	CC,CT,TT		0.5266,0.0994,0.3877		1396/3640	42167249	48,12334	2013	4178	6191	SO:0001819	synonymous_variant	51332	exon23			CTCCTTTGCATCC	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.4293A>G	15.37:g.42167249T>C		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_016642	0	0	0	0	0		Silent	SNP	ENST00000320955.6	37																																																																																				T|0.995;C|0.005		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42167249	T	C	42167249	2	2	11	1	0	0	0	0	0	0	0	1	15169	1799	63	4		4	SPTBN5	15	42167249	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		42167249	60364143	75	2856											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	11	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	21246834	63414083	39117309	76	2857											
ADAMTS17	170691	broad.mit.edu	37	chr15	100871168	100871168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaaggaccatttgcgcCtgatcagatgttctcgtcca	11	11	3	2	rs143689354	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr15:100871168C>T	ENST00000268070.4	-	3	647	c.542G>A	c.(541-543)aGg>aAg	p.R181K		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	181						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)		CCATTTGCGCCTGATCAGATG	0.587																																					p.R181K		.											.	ADAMTS17-228	0			c.G542A						.	C	LYS/ARG	0,4406		0,0,2203	130	123	126		542	5.1	1	15	dbSNP_134	126	10,8590	7.7+/-29.5	0,10,4290	yes	missense	ADAMTS17	NM_139057.2	26	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	benign	181/1096	100871168	10,12996	2203	4300	6503	SO:0001583	missense	170691	exon3			TTGCGCCTGATCA	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.542G>A	15.37:g.100871168C>T	ENSP00000268070:p.Arg181Lys	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	189	5	NM_139057	0	0	2	2	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693894	0.48202	0.0	0.001163	ENSG00000140470	ENST00000268070	T	0.61274	0.12	5.09	5.09	0.68999	.	0.065948	0.53938	D	0.000052	T	0.52125	0.1715	L	0.42245	1.32	0.39940	D	0.974391	P	0.37061	0.58	B	0.37550	0.253	T	0.57923	-0.7727	10	0.48119	T	0.1	.	15.4545	0.75302	0.0:1.0:0.0:0.0	.	181	Q8TE56	ATS17_HUMAN	K	181	ENSP00000268070:R181K	ENSP00000268070:R181K	R	-	2	0	ADAMTS17	98688691	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.971000	0.40530	2.351000	0.79841	0.655000	0.94253	AGG	C|0.999;T|0.001		0.587	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100871168	C	T	100871168	3	4	11	1	0	0	0	0	1	0	0	0	262	681	24	3	2825	3	ADAMTS17	15	100871168	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	37457085	100871168	1660224	77	2858											
MLST8	64223	ucsc.edu	37	chr16	2256104	2256104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatgaacacctccccaggCacggtgggcagtgacccggt	12	15	0	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr16:2256104C>A	ENST00000569417.1	+	2	372	c.18C>A	c.(16-18)ggC>ggA	p.G6G	AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000382450.4_Silent_p.G6G|MLST8_ENST00000397124.1_Silent_p.G6G|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.G6G|MLST8_ENST00000301725.7_Silent_p.G25G|MLST8_ENST00000301724.10_Silent_p.G6G|MLST8_ENST00000565250.1_Silent_p.G6G	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	6					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CCTCCCCAGGCACGGTGGGCA	0.632																																					p.G6G		.											.	MLST8-392	0			c.C18A						.																																			SO:0001819	synonymous_variant	64223	exon2			CCCAGGCACGGTG		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.18C>A	16.37:g.2256104C>A		Somatic	115	2		WXS	Illumina GAIIx	Phase_I	260	4	NM_001199174	0	0	10	15	5	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	CCDS10462.2																																																																																			.		0.632	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		A	2256104	C	A	2256104	2	1	11	1	0	0	0	0	0	0	0	1	9672	697	25	3		3	MLST8	16	2256104	Silent	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		2256104	88098649	78	2859											
NLRC5	84166	broad.mit.edu;bcgsc.ca	37	chr16	57101716	57101716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgcagagcctcctgctgtCcctctctgagctgaagacat	10	14	1	4			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr16:57101716C>A	ENST00000262510.6	+	36	4700	c.4475C>A	c.(4474-4476)tCc>tAc	p.S1492Y	NLRC5_ENST00000308149.7_Missense_Mutation_p.S1463Y|NLRC5_ENST00000436936.1_Missense_Mutation_p.S1492Y|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1463Y	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1492					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCTGCTGTCCCTCTCTGAG	0.522																																					p.S1492Y		.											.	NLRC5-159	0			c.C4475A						.						159	136	144					16																	57101716		2198	4300	6498	SO:0001583	missense	84166	exon35			TGCTGTCCCTCTC	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4475C>A	16.37:g.57101716C>A	ENSP00000262510:p.Ser1492Tyr	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	198	7	NM_032206	0	0	13	14	1	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768478	0.31320	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.52983	2.22;2.22;0.64;2.22	3.86	1.84	0.25277	.	.	.	.	.	T	0.63331	0.2502	M	0.83312	2.635	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.49606	-0.8922	9	0.31617	T	0.26	.	4.6605	0.12639	0.2144:0.6725:0.0:0.113	.	1492	Q86WI3	NLRC5_HUMAN	Y	1492;1463;1492;1463	ENSP00000262510:S1492Y;ENSP00000308886:S1463Y;ENSP00000389739:S1492Y;ENSP00000441727:S1463Y	ENSP00000262510:S1492Y	S	+	2	0	NLRC5	55659217	0.003000	0.15002	0.063000	0.19743	0.489000	0.33432	1.616000	0.36933	0.573000	0.29400	0.453000	0.30009	TCC	.		0.522	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57101716	C	A	57101716	3	1	11	1	0	0	0	0	1	0	0	0	10509	855	30	3	4609	3	NLRC5	16	57101716	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	54845612	57101716	33253037	79	2860											
SPG7	6687	hgsc.bcm.edu	37	chr16	89574945	89574945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccaggcccgggaggggGcggccgtacatggccagcag	18	15	0	0	rs187330648	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr16:89574945G>A	ENST00000268704.2	+	1	135	c.120G>A	c.(118-120)ggG>ggA	p.G40G	SPG7_ENST00000341316.2_Silent_p.G40G	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	40					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCGGGAGGGGGCGGCCGTACA	0.781													G|||	17	0.00339457	8e-04	0.0043	5008	,	,		9734	0		0.0129	False		,,,				2504	0				p.G40G		.											.	SPG7-226	0			c.G120A						.						1	2	1					16																	89574945		849	1936	2785	SO:0001819	synonymous_variant	6687	exon1			GAGGGGGCGGCCG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.120G>A	16.37:g.89574945G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_199367	0	0	1	2	1	O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	CCDS10977.1																																																																																			G|0.979;A|0.021		0.781	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		A	89574945	G	A	89574945	2	1	11	1	0	0	0	0	0	0	0	1	15091	1190	42	3		3	SPG7	16	89574945	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	32473229	89574945	779808	80	2861											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000466740.2_RNA|AC108004.3_ENST00000599026.1_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001013672	0	0	0	1	1	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	11	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		260182	80935028	81	2862											
WDR16	146845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9501596	9501596	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatcttccaaatagaaaaatCtggccaactgagtgccaaac	7	10	2	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr17:9501596C>G	ENST00000352665.5	+	5	651	c.582C>G	c.(580-582)atC>atG	p.I194M	WDR16_ENST00000299764.5_Missense_Mutation_p.I204M|WDR16_ENST00000396219.3_Missense_Mutation_p.I126M	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATAGAAAAATCTGGCCAACTG	0.328																																					p.I194M		.											.	WDR16-71	0			c.C582G						.						92	98	96					17																	9501596		2203	4300	6503	SO:0001583	missense	146845	exon5			AAAAATCTGGCCA	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.582C>G	17.37:g.9501596C>G	ENSP00000339449:p.Ile194Met	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	39	16	NM_145054	0	0	0	0	0		Missense_Mutation	SNP	ENST00000352665.5	37	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249276	0.22880	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.91124	2.41;-2.79;4.85	5.25	0.852	0.18995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.140815	0.64402	D	0.000005	T	0.79263	0.4416	L	0.28608	0.87	0.33495	D	0.589226	P;P;B	0.43024	0.492;0.798;0.376	B;B;B	0.40009	0.184;0.316;0.104	T	0.75428	-0.3321	10	0.29301	T	0.29	-26.1415	0.7975	0.01069	0.246:0.3801:0.1286:0.2453	.	204;126;194	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	M	194;126;204	ENSP00000339449:I194M;ENSP00000379521:I126M;ENSP00000299764:I204M	ENSP00000299764:I204M	I	+	3	3	WDR16	9442321	0.836000	0.29430	0.997000	0.53966	0.957000	0.61999	-0.048000	0.11944	0.601000	0.29879	0.561000	0.74099	ATC	.		0.328	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		G	9501596	C	G	9501596	3	3	11	1	0	0	0	0	1	0	0	0	17325	903	32	3	600	3	WDR16	17	9501596	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	9241414	9501596	71693614	82	2863											
MYOCD	93649	hgsc.bcm.edu;bcgsc.ca	37	chr17	12626174	12626174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccctttagcttccactgcAgagaggtccattccaactgc	7	14	0	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr17:12626174A>G	ENST00000343344.4	+	5	264	c.264A>G	c.(262-264)gcA>gcG	p.A88A	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_5'Flank|MYOCD_ENST00000425538.1_Silent_p.A88A			Q8IZQ8	MYCD_HUMAN	myocardin	88					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCACTGCAGAGAGGTCCA	0.443																																					p.A88A		.											.	MYOCD-93	0			c.A264G						.						124	134	131					17																	12626174		2203	4300	6503	SO:0001819	synonymous_variant	93649	exon5			CACTGCAGAGAGG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.264A>G	17.37:g.12626174A>G		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	61	12	NM_001146312	0	0	0	0	0	Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																			.		0.443	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		G	12626174	A	G	12626174	2	3	11	1	0	0	0	0	0	0	0	1	10125	175	7	4		4	MYOCD	17	12626174	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	3124578	12626174	68569036	83	2864											
SARM1	7448	hgsc.bcm.edu	37	chr17	26699121	26699121	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgtcgggcccacggcGgggcgccgagcggctggcgg	20	15	0	0	rs7212814		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_5'UTR|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1	1	1	5008	,	,		9002	1		1	False		,,,				2504	1				p.R23P		.											.	.	0			c.G68C						.						2	2	2					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015077	0	0	0	0	0	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699121	G	C	26699121	1	2	11	0	1	0	0	0	0	0	0	0	13887	1116	39	2		2	SARM1	17	26699121	5'Flank	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	14072947	26699121	54496089	84	2865											
CIDEA	1149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	12274230	12274230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtatgagatgtactccGtgtcctacgacatccggtgc	10	12	0	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr18:12274230G>A	ENST00000320477.9	+	4	534	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	157					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V191M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GATGTACTCCGTGTCCTACGA	0.582																																					p.V157M		.											.	CIDEA-91	1	Substitution - Missense(1)	pancreas(1)	c.G469A						.						136	109	118					18																	12274230		2203	4300	6503	SO:0001583	missense	1149	exon4			TACTCCGTGTCCT	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.469G>A	18.37:g.12274230G>A	ENSP00000320209:p.Val157Met	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	83	12	NM_001279	0	0	0	0	0	B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529525	0.44969	.	.	ENSG00000176194	ENST00000320477	D	0.81579	-1.51	5.31	5.31	0.75309	.	0.153345	0.44285	D	0.000463	T	0.82213	0.4988	L	0.51853	1.615	0.41004	D	0.984957	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.77659	-0.2505	10	0.10377	T	0.69	-42.3087	9.7044	0.40207	0.1564:0.0:0.8436:0.0	.	191;157	Q8N5P9;O60543	.;CIDEA_HUMAN	M	157	ENSP00000320209:V157M	ENSP00000320209:V157M	V	+	1	0	CIDEA	12264230	0.929000	0.31497	0.948000	0.38648	0.956000	0.61745	1.424000	0.34848	2.499000	0.84300	0.655000	0.94253	GTG	.		0.582	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		A	12274230	G	A	12274230	3	1	11	1	0	0	0	0	1	0	0	0	3432	1145	40	1	627	1	CIDEA	18	12274230	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		12274230	65803018	85	2866											
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	50976874	50976874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtcttttcccagagccGccaattggacaaatgcaccc	7	15	1	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr18:50976874G>A	ENST00000442544.2	+	23	3850	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	DCC_ENST00000581580.1_Silent_p.P713P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1078					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCAGAGCCGCCAATTGGAC	0.483																																					p.P1078P		.											.	DCC-225	0			c.G3234A						.						83	75	77					18																	50976874		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon23			AGAGCCGCCAATT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3234G>A	18.37:g.50976874G>A		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	65	39	NM_005215	0	0	0	0	0		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																			.		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50976874	G	A	50976874	2	1	11	1	0	0	0	0	0	0	0	1	4291	1074	38	1		1	DCC	18	50976874	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	38702644	50976874	27100374	86	2867											
C19orf6	91304	hgsc.bcm.edu	37	chr19	1010396	1010396	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgttggggccatggaggccgGgctaggcccgcctaccgcag	17	14	0	0	rs77868901	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:1010396G>C	ENST00000356663.3	-	11	1937	c.1816C>G	c.(1816-1818)Ccg>Gcg	p.P606A	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	606						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P606S(1)									ATGGAGGCCGGGCTAGGCCCG	0.726													N|||	155	0.0309505	0.0136	0.0058	5008	,	,		11720	0.0169		0.0457	False		,,,				2504	0.0716				p.P606A		.											.	.	1	Substitution - Missense(1)	skin(1)	c.C1816G						.		ALA/PRO,	48,3754		0,48,1853	3	4	4		1816,	-0.4	0	19	dbSNP_131	4	183,7553		2,179,3687	yes	missense,utr-3	C19orf6	NM_001033026.1,NM_033420.3	27,	2,227,5540	CC,CG,GG		2.3656,1.2625,2.0021	benign,	606/621,	1010396	231,11307	1901	3868	5769	SO:0001583	missense	91304	exon11			AGGCCGGGCTAGG	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1816C>G	19.37:g.1010396G>C	ENSP00000349087:p.Pro606Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	7	NM_001033026	0	0	0	139	139	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	CCDS32862.1	64	0.029304029304029304	12	0.024390243902439025	2	0.0055248618784530384	9	0.015734265734265736	41	0.05408970976253298	G	10.39	1.338342	0.24253	0.012625	0.023656	ENSG00000182087	ENST00000356663	.	.	.	3.36	-0.399	0.12415	.	0.456049	0.19721	N	0.107600	T	0.01940	0.0061	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.14727	-1.0462	9	0.22109	T	0.4	-0.4483	4.0757	0.09902	0.4474:0.1805:0.3721:0.0	.	606	Q4ZIN3	MBRL_HUMAN	A	606	.	ENSP00000349087:P606A	P	-	1	0	C19orf6	961396	0.005000	0.15991	0.021000	0.16686	0.040000	0.13550	-0.036000	0.12185	-0.082000	0.12640	0.500000	0.49745	CCG	G|0.970;C|0.030		0.726	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		C	1010396	G	C	1010396	3	2	11	1	0	0	0	0	1	0	0	0	1948	1232	43	3	50	3	C19orf6	19	1010396	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		1010396	58118587	87	2868											
TJP3	27134	hgsc.bcm.edu	37	chr19	3739077	3739077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccactggctggcggtgCgcatgggtcgtgacctgcgg	19	11	0	1	rs138219655		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:3739077C>T	ENST00000541714.2	+	13	2038	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	TJP3_ENST00000539908.2_Missense_Mutation_p.R490C|TJP3_ENST00000262968.9_Missense_Mutation_p.R559C|TJP3_ENST00000382008.3_Missense_Mutation_p.R540C|TJP3_ENST00000589378.1_Missense_Mutation_p.R535C|TJP3_ENST00000587686.1_Missense_Mutation_p.R545C	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	526	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGCGGTGCGCATGGGTCG	0.682																																					p.R535C		.											.	TJP3-92	0			c.C1603T						.	C	CYS/ARG	0,4406		0,0,2203	42	41	41		1675	4.2	1	19	dbSNP_134	41	3,8595	3.0+/-9.4	0,3,4296	no	missense	TJP3	NM_014428.1	180	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	559/953	3739077	3,13001	2203	4299	6502	SO:0001583	missense	27134	exon13			GCGGTGCGCATGG	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1576C>T	19.37:g.3739077C>T	ENSP00000439278:p.Arg526Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	14	NM_001267561	0	0	0	0	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240197	0.79912	0.0	3.49E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	4.22	4.22	0.49857	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.82323	2.585	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	0.12116	-1.0560	10	0.87932	D	0	.	11.1093	0.48223	0.1847:0.8152:0.0:0.0	.	545;559;540;526	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	C	526;490;540;559	ENSP00000439278:R526C;ENSP00000439991:R490C;ENSP00000371438:R540C;ENSP00000262968:R559C	ENSP00000262968:R559C	R	+	1	0	TJP3	3690077	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	3.612000	0.54142	2.181000	0.69327	0.555000	0.69702	CGC	C|1.000;T|0.000		0.682	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3739077	C	T	3739077	3	4	11	1	0	0	0	0	1	0	0	0	15978	768	27	1	1721	1	TJP3	19	3739077	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	2728681	3739077	55389906	88	2869			2	5		2	2	31	C		9.981179e-05
TJP3	27134	hgsc.bcm.edu	37	chr19	3739107	3739107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctgcgggagcaagagCggggcatcattcccaaccag	14	12	1	2	rs35628485	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:3739107C>T	ENST00000541714.2	+	13	2068	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	TJP3_ENST00000539908.2_Missense_Mutation_p.R500W|TJP3_ENST00000262968.9_Missense_Mutation_p.R569W|TJP3_ENST00000382008.3_Missense_Mutation_p.R550W|TJP3_ENST00000589378.1_Missense_Mutation_p.R545W|TJP3_ENST00000587686.1_Missense_Mutation_p.R555W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	536	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCAAGAGCGGGGCATCAT	0.662													C|||	10	0.00199681	0	0.0058	5008	,	,		16853	0		0.006	False		,,,				2504	0				p.R545W		.											.	TJP3-92	0			c.C1633T						.	C	TRP/ARG	8,4398	15.5+/-35.6	0,8,2195	50	47	48		1705	4.2	1	19	dbSNP_126	48	59,8541	35.9+/-90.5	1,57,4242	yes	missense	TJP3	NM_014428.1	101	1,65,6437	TT,TC,CC		0.686,0.1816,0.5151	probably-damaging	569/953	3739107	67,12939	2203	4300	6503	SO:0001583	missense	27134	exon13			CAAGAGCGGGGCA	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1606C>T	19.37:g.3739107C>T	ENSP00000439278:p.Arg536Trp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001267561	0	0	0	0	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	19.40	3.820431	0.71028	0.001816	0.00686	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.22	4.22	0.49857	Src homology-3 domain (3);Variant SH3 (1);	0.130416	0.48767	D	0.000165	T	0.27866	0.0686	M	0.62723	1.935	0.42742	D	0.993742	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.976;0.988;0.996;0.996	T	0.05386	-1.0888	10	0.87932	D	0	.	9.7476	0.40457	0.3299:0.6701:0.0:0.0	rs35628485	555;569;550;536	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	W	536;500;550;569	ENSP00000439278:R536W;ENSP00000439991:R500W;ENSP00000371438:R550W;ENSP00000262968:R569W	ENSP00000262968:R569W	R	+	1	2	TJP3	3690107	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.149000	0.64863	2.181000	0.69327	0.555000	0.69702	CGG	C|0.996;T|0.004		0.662	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3739107	C	T	3739107	3	4	11	1	0	0	0	0	1	0	0	0	15978	759	27	1	1751	1	TJP3	19	3739107	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	30	3739107	55389876	89	2870			2	5		2	2	31	C		9.981179e-05
CACNA1A	773	hgsc.bcm.edu	37	chr19	13319693	13319693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	25	4	0	0	rs16051	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	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.6657T>C	19.37:g.13319693A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	7	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	11	1	0	0	0	0	0	0	0	1	2545	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10	9580586	13319693	45809290	90	2871											
DYRK1B	9149	broad.mit.edu	37	chr19	40316857	40316857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtctgtgatagggggcCcagggcccccacaatatcgg	13	13	1	1			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:40316857C>A	ENST00000593685.1	-	10	1949	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V	DYRK1B_ENST00000430012.2_Missense_Mutation_p.G454V|DYRK1B_ENST00000348817.3_Missense_Mutation_p.G466V|DYRK1B_ENST00000597639.1_Missense_Mutation_p.G466V|DYRK1B_ENST00000323039.5_Missense_Mutation_p.G494V			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	494	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GATAGGGGGCCCAGGGCCCCC	0.622																																					p.G494V		.											.	DYRK1B-337	0			c.G1481T						.						50	53	52					19																	40316857		2203	4300	6503	SO:0001583	missense	9149	exon10			GGGGGCCCAGGGC	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1481G>T	19.37:g.40316857C>A	ENSP00000469863:p.Gly494Val	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	79	4	NM_004714	0	0	54	54	0	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236630	0.39498	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.57595	0.39;0.42;0.41	4.18	4.18	0.49190	.	0.077143	0.51477	D	0.000082	T	0.32406	0.0828	N	0.19112	0.55	0.80722	D	1	P;P;P	0.39376	0.67;0.541;0.67	B;B;B	0.35550	0.205;0.101;0.205	T	0.09574	-1.0668	10	0.25751	T	0.34	.	9.4552	0.38750	0.212:0.788:0.0:0.0	.	454;494;466	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	V	494;466;454	ENSP00000312789:G494V;ENSP00000221803:G466V;ENSP00000403182:G454V	ENSP00000312789:G494V	G	-	2	0	DYRK1B	45008697	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	1.960000	0.40422	1.847000	0.53656	0.462000	0.41574	GGG	.		0.622	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		A	40316857	C	A	40316857	3	1	11	1	0	0	0	0	1	0	0	0	4869	623	22	3	416	3	DYRK1B	19	40316857	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	26997164	40316857	18812126	91	2872											
NR1H2	7376	hgsc.bcm.edu	37	chr19	50881825	50881825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	11	8	2	3	rs55817866	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																					p.Q173Q		.											.	NR1H2-186	0			c.G519A						.						38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376	exon6			GAAACAGCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	135	7	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																			G|0.903;A|0.097		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	11	1	0	0	0	0	0	0	0	1	10656	962	34	3		3	NR1H2	19	50881825	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	10564968	50881825	8247158	92	2873											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_001114598	0	0	1	1	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	11	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	133579	51015404	8113579	93	2874											
SNPH	9751	hgsc.bcm.edu	37	chr20	1286662	1286662	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgctcgctgagccagccGagtcccagcccagcgggcgg	15	17	0	1	rs62187495	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr20:1286662G>A	ENST00000381873.3	+	6	1685	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	SNPH_ENST00000381867.1_Silent_p.P527P	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	483					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						TGAGCCAGCCGAGTCCCAGCC	0.692													G|||	47	0.00938498	0.0076	0.0115	5008	,	,		12878	0.001		0.0189	False		,,,				2504	0.0092				p.P483P		.											.	SNPH-92	0			c.G1449A						.	G		27,2993		0,27,1483	3	3	3		1449	-9.6	0	20	dbSNP_129	3	149,6021		1,147,2937	no	coding-synonymous	SNPH	NM_014723.2		1,174,4420	AA,AG,GG		2.4149,0.894,1.9151		483/495	1286662	176,9014	1510	3085	4595	SO:0001819	synonymous_variant	9751	exon6			CCAGCCGAGTCCC		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.1449G>A	20.37:g.1286662G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_014723	0	0	1	1	0	Q8IYI3	Silent	SNP	ENST00000381873.3	37	CCDS13012.1																																																																																			G|0.987;A|0.013		0.692	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		A	1286662	G	A	1286662	2	1	11	1	0	0	0	0	0	0	0	1	14895	1045	37	1		1	SNPH	20	1286662	Silent	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10		1286662	61738858	94	2875											
PLCB4	5332	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	9353694	9353694	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaataaatttcttttcagCaatggagacaaaactgatta	5	6	3	2			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr20:9353694C>T	ENST00000378493.1	+	9	702	c.687C>T	c.(685-687)atC>atT	p.I229I	PLCB4_ENST00000278655.4_Splice_Site_p.I229I|PLCB4_ENST00000334005.3_Splice_Site_p.I229I|PLCB4_ENST00000414679.2_Splice_Site_p.I229I|PLCB4_ENST00000378473.3_Splice_Site_p.I229I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Splice_Site_p.I229I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	229					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTCTTTTCAGCAATGGAGACA	0.289																																					p.I229I		.											.	PLCB4-274	0			c.C687T						.						71	69	70					20																	9353694		2199	4299	6498	SO:0001630	splice_region_variant	5332	exon10			TTTCAGCAATGGA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.687-1C>T	20.37:g.9353694C>T		Somatic	79	1		WXS	Illumina GAIIx	Phase_I	98	13	NM_182797	0	0	0	0	0	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																			.		0.289	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		Silent	T	9353694	C	T	9353694	5	4	11	1	0	0	0	0	0	0	1	0	12069	724	25	3	721	3	PLCB4	20	9353694	Splice_Site	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	8067032	9353694	53671826	95	2876											
COL18A1	80781	hgsc.bcm.edu	37	chr21	46929331	46929331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacgacagcaacccctaccCgcggcgggagcacccccacc	10	21	0	0	rs187670025	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr21:46929331C>G	ENST00000359759.4	+	38	4577	c.4556C>G	c.(4555-4557)cCg>cGg	p.P1519R	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.P1284R|COL18A1_ENST00000400337.2_Missense_Mutation_p.P1104R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1519	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)		AACCCCTACCCGCGGCGGGAG	0.751													C|||	27	0.00539137	0	0.0058	5008	,	,		10764	0		0.0129	False		,,,				2504	0.0102				p.P1281R		.											.	COL18A1-90	0			c.C3842G						.	C	ARG/PRO,ARG/PRO	3,3107		0,3,1552	3	4	4		3851,3311	4.3	0	21		4	53,6967		0,53,3457	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	103,103	0,56,5009	GG,GC,CC		0.755,0.0965,0.5528	probably-damaging,probably-damaging	1284/1520,1104/1340	46929331	56,10074	1555	3510	5065	SO:0001583	missense	80781	exon39			CCTACCCGCGGCG		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.4556C>G	21.37:g.46929331C>G	ENSP00000352798:p.Pro1519Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_030582	0	0	14	22	8	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		13|13	0.005952380952380952|0.005952380952380952	2|2	0.0040650406504065045|0.0040650406504065045	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	7|7	0.009234828496042216|0.009234828496042216	C|C	11.25|11.25	1.583916|1.583916	0.28268|0.28268	9.65E-4|9.65E-4	0.00755|0.00755	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	4.28|4.28	4.28|4.28	0.50868|0.50868	Collagenase NC10/endostatin (1);|.	0.485149|.	0.21106|.	N|.	0.080068|.	T|T	0.53610|0.53610	0.1807|0.1807	L|L	0.59436|0.59436	1.845|1.845	0.37272|0.37272	D|D	0.907456|0.907456	P;P;P;P|.	0.50272|.	0.933;0.883;0.918;0.918|.	P;B;P;B|.	0.51516|.	0.672;0.4;0.543;0.438|.	T|T	0.63047|0.63047	-0.6724|-0.6724	10|5	0.21540|.	T|.	0.41|.	.|.	9.951|9.951	0.41638|0.41638	0.203:0.797:0.0:0.0|0.203:0.797:0.0:0.0	.|.	1519;1101;1284;1104|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	R|G	1104;1104;1284;1519;1519;452|89	ENSP00000383191:P1104R;ENSP00000347665:P1284R;ENSP00000352798:P1519R;ENSP00000339118:P452R|.	ENSP00000339118:P452R|.	P|R	+|+	2|1	0|0	COL18A1|COL18A1	45753759|45753759	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.014000|0.014000	0.08584|0.08584	0.128000|0.128000	0.15810|0.15810	2.117000|2.117000	0.64856|0.64856	0.542000|0.542000	0.68232|0.68232	CCG|CGC	C|0.994;G|0.006		0.751	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			G	46929331	C	G	46929331	3	3	11	1	0	0	0	0	1	0	0	0	3682	652	23	2	4815	2	COL18A1	21	46929331	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10		46929331	1200564	96	2877											
NEFH	4744	bcgsc.ca	37	chr22	29885861	29885861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtgaaggaagaagcTaagtccccagagaaggccaa	11	11	0	3	rs59890097|rs532587474|rs165923	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr22:29885861T>C	ENST00000310624.6	+	4	2265	c.2232T>C	c.(2230-2232)gcT>gcC	p.A744A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	750	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						AGGAAGAAGCTAAGTCCCCAG	0.552													C|||	4098	0.818291	0.8699	0.7392	5008	,	,		19904	0.7917		0.7694	False		,,,				2504	0.8824				p.A744A		.											.	NEFH-90	0			c.T2232C	GRCh37	CD991813	NEFH	D	rs165923	.	C		3677,729	300.7+/-286.5	1541,595,67	101	101	101	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2232	2.5	0.1	22	dbSNP_79	101	6732,1868	328.2+/-318.2	2636,1460,204	no	coding-synonymous	NEFH	NM_021076.3		4177,2055,271	CC,CT,TT		21.7209,16.5456,19.9677		744/1021	29885861	10409,2597	2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			AGAAGCTAAGTCC		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.2232T>C	22.37:g.29885861T>C		Somatic	418	2		WXS	Illumina GAIIx	Phase_I	210	8	NM_021076	0	0	11	11	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			T|0.192;C|0.808		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885861	T	C	29885861	2	2	11	1	0	0	0	0	0	0	0	1	10353	1509	53	4		4	NEFH	22	29885861	Silent	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10		29885861	21418705	97	2878											
FBXO7	25793	bcgsc.ca	37	chr22	32875190	32875190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccaatcagactagcatGcaggatgaacaaccaagtga	9	10	1	3	rs11107	byFrequency	TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chr22:32875190G>A	ENST00000266087.7	+	2	672	c.345G>A	c.(343-345)atG>atA	p.M115I	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Missense_Mutation_p.M36I|FBXO7_ENST00000397426.1_Start_Codon_SNP_p.M1I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	115	Important for interaction with PINK1.		M -> I (in dbSNP:rs11107). {ECO:0000269|PubMed:10531035, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18513678}.		cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGACTAGCATGCAGGATGAAC	0.448													g|||	2441	0.48742	0.4047	0.5663	5008	,	,		17154	0.6915		0.3748	False		,,,				2504	0.4489				p.M115I		.											.	FBXO7-228	0			c.G345A						.	G	ILE/MET,ILE/MET	1640,2766	501.8+/-365.1	307,1026,870	93	92	92		108,345	-3.6	0	22	dbSNP_52	92	3202,5398	483.2+/-371.1	572,2058,1670	yes	missense,missense	FBXO7	NM_001033024.1,NM_012179.3	10,10	879,3084,2540	AA,AG,GG		37.2326,37.222,37.229	benign,benign	36/444,115/523	32875190	4842,8164	2203	4300	6503	SO:0001583	missense	25793	exon2			TAGCATGCAGGAT	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.345G>A	22.37:g.32875190G>A	ENSP00000266087:p.Met115Ile	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	80	5	NM_012179	0	0	3	3	0	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	1067	0.48855311355311354	185	0.37601626016260165	193	0.5331491712707183	396	0.6923076923076923	293	0.3865435356200528	g	0.741	-0.776340	0.02951	0.37222	0.372326	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.53	-3.63	0.04529	.	1.881220	0.01957	N	0.043074	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47368	-0.9123	9	0.37606	T	0.19	0.134	0.4433	0.00489	0.2236:0.1582:0.2575:0.3607	rs11107;rs710174;rs3171628;rs17350295;rs17771677;rs17850310;rs52811518;rs58963810;rs11107	36;115;1	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	I	115;36;36;1;1	ENSP00000266087:M115I;ENSP00000388547:M36I;ENSP00000371490:M36I;ENSP00000380571:M1I;ENSP00000404388:M1I	ENSP00000266087:M115I	M	+	3	0	FBXO7	31205190	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.024000	0.12435	-0.629000	0.05575	-0.578000	0.04140	ATG	G|0.577;N|0.000		0.448	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			A	32875190	G	A	32875190	3	1	11	1	0	0	0	0	1	0	0	0	5782	1319	46	3	392	3	FBXO7	22	32875190	Missense_Mutation	SNP	G	TCGA-OR-A5JC-01A-11D-A29I-10	2989329	32875190	18429376	98	2879											
ASMTL	8623	broad.mit.edu;bcgsc.ca	37	chrX	1538001	1538001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccgggctctggtagtAcgcatcctggaacacagcag	12	13	2	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chrX:1538001A>G	ENST00000381317.3	-	10	1284	c.1252T>C	c.(1252-1254)Tac>Cac	p.Y418H	ASMTL_ENST00000534940.1_Missense_Mutation_p.Y360H|ASMTL_ENST00000381333.4_Missense_Mutation_p.Y402H|ASMTL_ENST00000416733.2_Missense_Mutation_p.Y342H	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	418	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCTGGTAGTACGCATCCTGG	0.667																																					p.Y418H		.											.	ASMTL-62	0			c.T1252C						.						33	43	39					X																	1538001		2090	4208	6298	SO:0001583	missense	8623	exon10			GGTAGTACGCATC	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1252T>C	X.37:g.1538001A>G	ENSP00000370718:p.Tyr418His	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	207	10	NM_004192	0	0	1	1	0	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	a	0.703	-0.790208	0.02884	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	1.88	0.646	0.17789	O-methyltransferase, family 2 (1);	1.368550	0.05157	U	0.497015	T	0.12135	0.0295	N	0.05510	-0.035	0.09310	N	1	B;B;B	0.23128	0.08;0.016;0.02	B;B;B	0.20384	0.029;0.006;0.006	T	0.29701	-1.0003	10	0.18276	T	0.48	.	4.9277	0.13901	0.7034:0.0:0.2966:0.0	.	342;402;418	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	H	342;360;402;418	ENSP00000410578:Y342H;ENSP00000446410:Y360H;ENSP00000370734:Y402H;ENSP00000370718:Y418H	ENSP00000370718:Y418H	Y	-	1	0	ASMTL	1498001	0.000000	0.05858	0.002000	0.10522	0.161000	0.22273	0.179000	0.16840	0.441000	0.26529	0.084000	0.15446	TAC	.		0.667	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1538001	A	G	1538001	3	3	11	1	0	0	0	0	1	0	0	0	1047	391	14	4	629	4	ASMTL	23	1538001	Missense_Mutation	SNP	A	TCGA-OR-A5JC-01A-11D-A29I-10		1538001	153732559	99	2880											
PDK3	5165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	24517001	24517001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaataagagccctgaggatCcacaggtcttggataagtaa	10	7	1	2	rs375475050		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chrX:24517001C>T	ENST00000379162.4	+	3	539	c.304C>T	c.(304-306)Cca>Tca	p.P102S	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000441463.2_Missense_Mutation_p.P102S	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	102					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCCTGAGGATCCACAGGTCTT	0.303																																					p.P102S		.											.	PDK3-377	0			c.C304T						.	C	SER/PRO,SER/PRO	2,3833		0,2,1630,571	41	44	43		304,304	6.2	0.9	X		43	0,6728		0,0,2428,1872	no	missense,missense	PDK3	NM_001142386.2,NM_005391.4	74,74	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign,benign	102/416,102/407	24517001	2,10561	2203	4300	6503	SO:0001583	missense	5165	exon3			GAGGATCCACAGG	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.304C>T	X.37:g.24517001C>T	ENSP00000368460:p.Pro102Ser	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	133	46	NM_005391	0	0	0	0	0	B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	6.900	0.535617	0.13188	5.22E-4	0.0	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.40225	1.04;1.59	6.17	6.17	0.99709	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.487974	0.24841	N	0.035161	T	0.27594	0.0678	N	0.25245	0.725	0.46149	D	0.998896	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11743	-1.0575	10	0.08837	T	0.75	.	13.0269	0.58821	0.0:0.9254:0.0:0.0746	.	102;102	B4DXG6;Q15120	.;PDK3_HUMAN	S	102	ENSP00000368460:P102S;ENSP00000387536:P102S	ENSP00000368460:P102S	P	+	1	0	PDK3	24426922	0.422000	0.25473	0.933000	0.37362	0.997000	0.91878	1.958000	0.40402	2.618000	0.88619	0.600000	0.82982	CCA	.		0.303	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		T	24517001	C	T	24517001	3	4	11	1	0	0	0	0	1	0	0	0	11716	855	30	3	314	3	PDK3	23	24517001	Missense_Mutation	SNP	C	TCGA-OR-A5JC-01A-11D-A29I-10	22979000	24517001	130753559	100	2881											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102					GBM(38;198 791 1498 11752 13599)	.											.	NUDT11-130	5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)							.			1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190	wholegene			ACTTCATCCTCGA	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	149	49	NM_018159	0	0	0	0	0	Q9NVN0	Frame_Shift_Del	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																			.		0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	11	1	0	1	0	1	0	0	0	0	10766	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-OR-A5JC-01A-11D-A29I-10	26722295	51239296	104031264	101	2882											
KIAA1210	57481	broad.mit.edu	37	chrX	118219366	118219366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatatttaggctccttagTctcagcatcggctccagcat	7	13	2	0			TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chrX:118219366T>C	ENST00000402510.2	-	12	4827	c.4828A>G	c.(4828-4830)Act>Gct	p.T1610A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1610										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGCTCCTTAGTCTCAGCATCG	0.443																																					p.T1610A		.											.	KIAA1210-67	0			c.A4828G						.						165	151	155					X																	118219366		1894	4111	6005	SO:0001583	missense	57481	exon12			CCTTAGTCTCAGC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4828A>G	X.37:g.118219366T>C	ENSP00000384670:p.Thr1610Ala	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	97	4	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.158|4.158	0.027864|0.027864	0.08054|0.08054	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10099	.|2.91	5.26|5.26	0.0547|0.0547	0.14311|0.14311	.|.	.|.	.|.	.|.	.|.	T|T	0.06781|0.06781	0.0173|0.0173	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B	.|0.20261	.|0.043	.|B	.|0.23419	.|0.046	T|T	0.47355|0.47355	-0.9124|-0.9124	5|9	.|0.08179	.|T	.|0.78	.|.	5.8263|5.8263	0.18556|0.18556	0.0:0.2493:0.1339:0.6168|0.0:0.2493:0.1339:0.6168	.|.	.|1610	.|Q9ULL0	.|K1210_HUMAN	G|A	1016|1610	.|ENSP00000384670:T1610A	.|ENSP00000384670:T1610A	D|T	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118103394|118103394	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.066000|0.066000	0.16364|0.16364	-0.058000|-0.058000	0.11750|0.11750	-0.493000|-0.493000	0.06678|0.06678	-1.384000|-1.384000	0.01168|0.01168	GAC|ACT	.		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		C	118219366	T	C	118219366	3	2	11	1	0	0	0	0	1	0	0	0	8241	1667	58	4	313	4	KIAA1210	23	118219366	Missense_Mutation	SNP	T	TCGA-OR-A5JC-01A-11D-A29I-10	66980070	118219366	37051194	102	2883											
FATE1	89885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	150884636	150884637	+	Missense_Mutation	DNP	CC	CC	AA													aaggcggagatggaaatgtcCctggcagaagaactgaatca							TCGA-OR-A5JC-01A-11D-A29I-10	TCGA-OR-A5JC-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4d71931f-ab18-41cb-89e6-1924e9c5df4d	bfb53fdb-f499-4cae-9016-3fcdcc401716	g.chrX:150884636_150884637CC>AA	ENST00000370350.3	+	1	130_131	c.45_46CC>AA	c.(43-48)tcCCtg>tcAAtg	p.L16M		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAATGTCCCTGGCAGAAGA	0.54																																					p.L16M		.											.	FATE1-131	0			c.C46A						.																																			SO:0001583	missense	89885	exon1			ATGTCCCTGGCAG	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	Exception_encountered	X.37:g.150884636_150884637delinsAA	ENSP00000359375:p.Leu16Met	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	286	30	NM_033085	0	0	0	0	0		Missense_Mutation	DNP	ENST00000370350.3	37	CCDS14700.1																																																																																			.		0.54	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		AA	150884637	CC	AA	150884636	3	1	11	1	0	0	0	0	1	0	0	0	5715	610	22	3	47	3	FATE1	23	150884636	Missense_Mutation	DNP	CC	TCGA-OR-A5JC-01A-11D-A29I-10	32665270	150884636	4385924	103	2884											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003132	0	0	0	19	19	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	12	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10		11119899	238130722	1	2885											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000526792.1_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	12	1	0	0	0	0	0	0	0	1	13695	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	15736563	26856462	222394159	2	2886											
RRAGC	64121	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	39321479	39321479	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcatcagacagaccaTcaactttgtgaataaaaacc	6	9	3	4			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:39321479T>A	ENST00000373001.3	-	3	718	c.542A>T	c.(541-543)gAt>gTt	p.D181V		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AGACAGACCATCAACTTTGTG	0.393																																					p.D181V		.											.	RRAGC-91	0			c.A542T						.						161	156	158					1																	39321479		2203	4300	6503	SO:0001583	missense	64121	exon3			AGACCATCAACTT	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.542A>T	1.37:g.39321479T>A	ENSP00000362092:p.Asp181Val	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	95	6	NM_022157	0	0	7	7	0		Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814469	0.90790	.	.	ENSG00000116954	ENST00000373001	D	0.96856	-4.15	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.99	D	0.99675	1.0997	10	0.87932	D	0	-33.4265	16.6245	0.84952	0.0:0.0:0.0:1.0	.	147;115;181	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	V	181	ENSP00000362092:D181V	ENSP00000362092:D181V	D	-	2	0	RRAGC	39094066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAT	.		0.393	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		A	39321479	T	A	39321479	3	1	12	1	0	0	0	0	1	0	0	0	13719	1435	50	5	677	5	RRAGC	1	39321479	Missense_Mutation	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	12465017	39321479	209929142	3	2887											
ZCCHC11	23318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	52943488	52943488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaatccagtgtgtagaAtttaagcagctctaaccata	7	8	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:52943488A>G	ENST00000371544.3	-	12	2177	c.1915T>C	c.(1915-1917)Ttc>Ctc	p.F639L	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.F639L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	639	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTGTGTAGAATTTAAGCAGC	0.353																																					p.F639L		.											.	ZCCHC11-93	0			c.T1915C						.						106	108	107					1																	52943488		2203	4300	6503	SO:0001583	missense	23318	exon12			TGTAGAATTTAAG	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1915T>C	1.37:g.52943488A>G	ENSP00000360599:p.Phe639Leu	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	112	18	NM_001009881	0	0	1	1	0	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321294	0.81580	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.38	5.38	0.77491	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	M	0.71036	2.16	0.80722	D	1	P;D;P	0.76494	0.92;0.999;0.801	P;D;P	0.74674	0.575;0.984;0.458	D	0.87809	0.2630	10	0.56958	D	0.05	.	15.3685	0.74541	1.0:0.0:0.0:0.0	.	398;639;639	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	L	639;639;568;398	ENSP00000257177:F639L;ENSP00000360599:F639L;ENSP00000433486:F568L;ENSP00000435256:F398L	ENSP00000257177:F639L	F	-	1	0	ZCCHC11	52716076	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.725000	0.91468	2.023000	0.59567	0.528000	0.53228	TTC	.		0.353	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		G	52943488	A	G	52943488	3	3	12	1	0	0	0	0	1	0	0	0	17628	101	4	4	3098	4	ZCCHC11	1	52943488	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	13622009	52943488	196307133	4	2888											
SSBP3	23648	broad.mit.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	12	13	0	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																					p.K6R		.											.	SSBP3-90	0			c.A17G						.						4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	23648	exon1			GAGCCTTTGCCTT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	68	5	NM_001009955	0	0	10	10	0	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	.		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		C	54871665	T	C	54871665	3	2	12	1	0	0	0	0	1	0	0	0	15228	1841	64	4	1221	4	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	1928177	54871665	194378956	5	2889											
C1orf173	127254	broad.mit.edu	37	chr1	75036922	75036922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgttgccatcgcctgtAgactctccggactcaattcc	9	13	2	1	rs377014512		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:75036922A>G	ENST00000326665.5	-	14	4690	c.4472T>C	c.(4471-4473)cTa>cCa	p.L1491P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1491										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						CATCGCCTGTAGACTCTCCGG	0.527																																					p.L1491P		.											.	C1orf173-94	0			c.T4472C						.	A	PRO/LEU	0,4406		0,0,2203	186	172	177		4472	-10.2	0	1		177	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf173	NM_001002912.4	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1491/1531	75036922	1,13005	2203	4300	6503	SO:0001583	missense	127254	exon14			GCCTGTAGACTCT																												ENST00000326665.5:c.4472T>C	1.37:g.75036922A>G	ENSP00000322609:p.Leu1491Pro	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	126	4	NM_001002912	0	0	0	0	0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426642	0.43020	0.0	1.16E-4	ENSG00000178965	ENST00000326665	T	0.10960	2.82	5.08	-10.2	0.00374	.	.	.	.	.	T	0.01421	0.0046	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.45338	-0.9268	9	0.34782	T	0.22	1.7867	11.3387	0.49520	0.2179:0.2698:0.5124:0.0	.	1491	Q5RHP9	CA173_HUMAN	P	1491	ENSP00000322609:L1491P	ENSP00000322609:L1491P	L	-	2	0	C1orf173	74809510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.961000	0.01516	-2.183000	0.00763	-0.379000	0.06801	CTA	.		0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75036922	A	G	75036922	3	3	12	1	0	0	0	0	1	0	0	0	2021	420	15	4	124	4	C1orf173	1	75036922	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	20165257	75036922	174213699	6	2890											
NBPF14	25832	bcgsc.ca	37	chr1	148004732	148004732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacggagtcgaataacatAtatccagtgagtcctgcaag	10	8	0	2	rs77570381	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:148004732A>C	ENST00000369219.1	-	22	2598	c.2582T>G	c.(2581-2583)aTa>aGa	p.I861R				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	861	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CGAATAACATATATCCAGTGA	0.443													-|||	888	0.177316	0.3563	0.17	5008	,	,		21568	0.0387		0.1571	False		,,,				2504	0.1043				p.I861R		.											.	NBPF14-91	0			c.T2582G						.						137	206	184					1																	148004732		1975	4175	6150	SO:0001583	missense	25832	exon22			TAACATATATCCA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2582T>G	1.37:g.148004732A>C	ENSP00000358221:p.Ile861Arg	Somatic	283	26		WXS	Illumina GAIIx	Phase_I	91	38	NM_015383	0	0	0	88	88	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0|0	-2.808263|-2.808263	0.00074|0.00074	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.04758|.	3.56|.	0.445|0.445	-0.821|-0.821	0.10822|0.10822	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.00552|0.00552	0.0018|0.0018	N|N	0.00067|0.00067	-2.295|-2.295	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.25572|0.25572	-1.0128|-1.0128	8|4	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	.|.	209;842;861|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	R|D	861;209|867	ENSP00000358221:I861R|.	ENSP00000358221:I861R|.	I|Y	-|-	2|1	0|0	NBPF14|NBPF14	146471356|146471356	0.672000|0.672000	0.27530|0.27530	0.001000|0.001000	0.08648|0.08648	0.018000|0.018000	0.09664|0.09664	-2.116000|-2.116000	0.01327|0.01327	-2.455000|-2.455000	0.00540|0.00540	-2.125000|-2.125000	0.00346|0.00346	ATA|TAT	C|1.000;|0.000		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148004732	A	C	148004732	3	2	12	1	0	0	0	0	1	0	0	0	10233	449	16	5	187	5	NBPF14	1	148004732	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	72967810	148004732	101245889	7	2891			1	6		2	2	18	N	C_A	4.612784e-05
NBPF14	25832	bcgsc.ca	37	chr1	148004749	148004749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatatccagtgagtcctgCaagacttcaggctcttccac	7	13	2	2	rs77143638	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:148004749C>T	ENST00000369219.1	-	22	2581	c.2565G>A	c.(2563-2565)ttG>ttA	p.L855L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	855	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GTGAGTCCTGCAAGACTTCAG	0.458													-|||	661	0.131989	0.2867	0.0922	5008	,	,		17971	0.0516		0.0964	False		,,,				2504	0.0706				p.L855L		.											.	NBPF14-91	0			c.G2565A						.						108	170	151					1																	148004749		1903	4152	6055	SO:0001819	synonymous_variant	25832	exon22			GTCCTGCAAGACT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2565G>A	1.37:g.148004749C>T		Somatic	216	6		WXS	Illumina GAIIx	Phase_I	68	12	NM_015383	0	0	131	150	19	Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	N	0.300	-0.974481	0.02215	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.464	-0.927	0.10451	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38286	-0.9668	3	.	.	.	.	.	.	.	.	.	.	.	Y	861	.	.	C	-	2	0	NBPF14	146471373	0.562000	0.26586	0.001000	0.08648	0.010000	0.07245	-2.181000	0.01257	-1.935000	0.01049	-1.057000	0.02308	TGC	C|0.986;T|0.014		0.458	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		T	148004749	C	T	148004749	2	4	12	1	0	0	0	0	0	0	0	1	10233	709	25	3		3	NBPF14	1	148004749	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	17	148004749	101245872	8	2892			1	6		2	2	18	N	C_A	4.612784e-05
PEA15	8682	broad.mit.edu;bcgsc.ca	37	chr1	160182974	160182974	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactatggtggttgactacAgaacccgtgtgctgaagatc	11	9	1	4	rs61756023	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:160182974A>C	ENST00000360472.4	+	3	435	c.247A>C	c.(247-249)Aga>Cga	p.R83R	PEA15_ENST00000368076.1_Silent_p.R104R|PEA15_ENST00000368077.1_Silent_p.R61R|PEA15_ENST00000488858.1_3'UTR	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	83					apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTGACTACAGAACCCGTGT	0.522																																					p.R83R		.											.	PEA15-658	0			c.A247C						.	A		1,4405	2.1+/-5.4	0,1,2202	186	158	167		247	4.4	1	1	dbSNP_129	167	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	PEA15	NM_003768.3		0,10,6493	CC,CA,AA		0.1047,0.0227,0.0769		83/131	160182974	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	8682	exon3			GACTACAGAACCC	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"Phosphoprotein enriched in astrocytes, 15kD", "homolog of mouse MAT-1 oncogene"	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.247A>C	1.37:g.160182974A>C		Somatic	254	0		WXS	Illumina GAIIx	Phase_I	191	7	NM_003768	0	0	53	56	3	B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	37	CCDS1199.1																																																																																			A|0.999;C|0.001		0.522	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		C	160182974	A	C	160182974	2	2	12	1	0	0	0	0	0	0	0	1	11750	180	7	5		5	PEA15	1	160182974	Silent	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	12178225	160182974	89067647	9	2893											
C1orf26	54823	bcgsc.ca	37	chr1	185240474	185240474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttggccccaaacagtAattatcaagatgttgagacc	9	8	1	2	rs12041704	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:185240474A>G	ENST00000367500.4	+	17	2626	c.2461A>G	c.(2461-2463)Aat>Gat	p.N821D	SWT1_ENST00000367501.3_Missense_Mutation_p.N821D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	821			N -> D (in dbSNP:rs12041704). {ECO:0000269|PubMed:15489334}.							breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCCAAACAGTAATTATCAAGA	0.284													A|||	1743	0.348043	0.2428	0.3963	5008	,	,		13198	0.245		0.4433	False		,,,				2504	0.4642				p.N821D		.											.	SWT1-91	0			c.A2461G						.	A	ASP/ASN,ASP/ASN	1203,3175	380.2+/-323.6	164,875,1150	38	39	39		2461,2461	4.8	1	1	dbSNP_120	39	3641,4921	504.5+/-376.2	786,2069,1426	yes	missense,missense	SWT1	NM_001105518.1,NM_017673.6	23,23	950,2944,2576	GG,GA,AA		42.5251,27.4783,37.4343	benign,benign	821/901,821/901	185240474	4844,8096	2189	4281	6470	SO:0001583	missense	54823	exon17			AACAGTAATTATC	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2461A>G	1.37:g.185240474A>G	ENSP00000356470:p.Asn821Asp	Somatic	182	2		WXS	Illumina GAIIx	Phase_I	114	5	NM_017673	0	0	2	2	0	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	763	0.34935897435897434	132	0.2682926829268293	134	0.3701657458563536	170	0.2972027972027972	327	0.4313984168865435	A	16.44	3.123324	0.56613	0.274783	0.425251	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20200	2.09;2.09	6.02	4.8	0.61643	.	0.263012	0.43747	D	0.000535	T	0.00012	0.0000	N	0.24115	0.695	0.41524	P	0.011584000000000039	P	0.49090	0.919	B	0.42692	0.395	T	0.42068	-0.9473	9	0.11794	T	0.64	.	9.9289	0.41510	0.838:0.0:0.0:0.162	rs12041704;rs12756341;rs17578728;rs17852826;rs52806916;rs60303559;rs12041704	821	Q5T5J6	SWT1_HUMAN	D	821	ENSP00000356471:N821D;ENSP00000356470:N821D	ENSP00000356470:N821D	N	+	1	0	SWT1	183507097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.076000	0.50081	2.299000	0.77371	0.528000	0.53228	AAT	A|0.637;G|0.363		0.284	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		G	185240474	A	G	185240474	3	3	12	1	0	0	0	0	1	0	0	0	2042	362	13	4	2523	4	C1orf26	1	185240474	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	25057500	185240474	64010147	10	2894											
SLC30A1	7779	broad.mit.edu;ucsc.edu	37	chr1	211749518	211749518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgcagaaaaactccacGcatgttaagttgtccagccc	8	12	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:211749518G>A	ENST00000367001.4	-	2	865	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	246					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)		AAAACTCCACGCATGTTAAGT	0.423																																					p.R246C		.											.	SLC30A1-93	0			c.C736T						.						53	54	54					1																	211749518		2203	4299	6502	SO:0001583	missense	7779	exon2			CTCCACGCATGTT	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.736C>T	1.37:g.211749518G>A	ENSP00000355968:p.Arg246Cys	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	113	3	NM_021194	0	0	15	17	2	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749330	0.69533	.	.	ENSG00000170385	ENST00000367001	T	0.68479	-0.33	5.18	4.21	0.49690	.	0.049221	0.85682	D	0.000000	D	0.87561	0.6208	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91531	0.5242	10	0.72032	D	0.01	-7.6689	14.4607	0.67448	0.0:0.0:0.8522:0.1478	.	246	Q9Y6M5	ZNT1_HUMAN	C	246	ENSP00000355968:R246C	ENSP00000355968:R246C	R	-	1	0	SLC30A1	209816141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.575000	0.82447	2.419000	0.82065	0.557000	0.71058	CGT	.		0.423	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			A	211749518	G	A	211749518	3	1	12	1	0	0	0	0	1	0	0	0	14598	1087	38	1	791	1	SLC30A1	1	211749518	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	26509044	211749518	37501103	11	2895											
RYR2	6262	broad.mit.edu;bcgsc.ca	37	chr1	237754280	237754280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggaaaagccctctcGtctgaaacaaaggttactaa	8	11	2	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:237754280G>T	ENST00000366574.2	+	31	4465	c.4148G>T	c.(4147-4149)cGt>cTt	p.R1383L	RYR2_ENST00000360064.6_Missense_Mutation_p.R1381L|RYR2_ENST00000542537.1_Missense_Mutation_p.R1367L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1383	4 X approximate repeats.|B30.2/SPRY 3. {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)			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)			AAGCCCTCTCGTCTGAAACAA	0.398																																					p.R1383L		.											.	RYR2-158	0			c.G4148T						.						51	48	49					1																	237754280		1858	4096	5954	SO:0001583	missense	6262	exon31			CCTCTCGTCTGAA	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.4148G>T	1.37:g.237754280G>T	ENSP00000355533:p.Arg1383Leu	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971468	0.34754	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.18	5.34	5.34	0.76211	B30.2/SPRY domain (1);	0.100459	0.40469	N	0.001098	D	0.88066	0.6337	N	0.02011	-0.69	0.80722	D	1	P	0.35401	0.499	B	0.26202	0.067	D	0.88555	0.3119	10	0.49607	T	0.09	.	17.7618	0.88466	0.0:0.0:1.0:0.0	.	1383	Q92736	RYR2_HUMAN	L	1383;1381;1367	ENSP00000355533:R1383L;ENSP00000353174:R1381L;ENSP00000443798:R1367L	ENSP00000353174:R1381L	R	+	2	0	RYR2	235820903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.283000	0.72646	2.937000	0.99478	0.650000	0.86243	CGT	.		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237754280	G	T	237754280	3	4	12	1	0	0	0	0	1	0	0	0	13814	1145	40	2	4270	2	RYR2	1	237754280	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	26004762	237754280	11496341	12	2896											
DNMT3A	1788	broad.mit.edu	37	chr2	25469926	25469926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagggacactcacctgcagGacctcgtagatggctttgcg	13	12	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:25469926G>A	ENST00000264709.3	-	9	1453	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Silent_p.V372V|DNMT3A_ENST00000402667.1_Silent_p.V149V|DNMT3A_ENST00000380746.4_Silent_p.V183V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	372	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCTGCAGGACCTCGTAGA	0.597			"Mis, F, N, S"		AML																																p.V372V		.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A-1924	0			c.C1116T						.						114	81	92					2																	25469926		2203	4300	6503	SO:0001819	synonymous_variant	1788	exon9			CTGCAGGACCTCG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1116C>T	2.37:g.25469926G>A		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	106	4	NM_175629	0	0	0	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																			.		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		A	25469926	G	A	25469926	2	1	12	1	0	0	0	0	0	0	0	1	4690	1161	41	3		3	DNMT3A	2	25469926	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		25469926	217729447	13	2897											
DYSF	8291	bcgsc.ca	37	chr2	71780215	71780215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcaggatgtggatgaTgccatccagtttgaggtcag	14	7	1	2	rs2303596	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:71780215T>C	ENST00000258104.3	+	20	2104	c.1827T>C	c.(1825-1827)gaT>gaC	p.D609D	DYSF_ENST00000409762.1_Silent_p.D626D|DYSF_ENST00000394120.2_Silent_p.D610D|DYSF_ENST00000410020.3_Silent_p.D627D|DYSF_ENST00000413539.2_Silent_p.D640D|DYSF_ENST00000409582.3_Silent_p.D626D|DYSF_ENST00000409366.1_Silent_p.D610D|DYSF_ENST00000409744.1_Silent_p.D596D|DYSF_ENST00000409651.1_Silent_p.D641D|DYSF_ENST00000429174.2_Silent_p.D609D|DYSF_ENST00000410041.1_Silent_p.D627D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	609					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGTGGATGATGCCATCCAGT	0.562													C|||	2882	0.575479	0.7753	0.6412	5008	,	,		19523	0.2222		0.7336	False		,,,				2504	0.4601				p.D641D		.											.	DYSF-158	0			c.T1923C						.	C	,,,,,,,,,,,,,	3451,955	363.9+/-316.7	1351,749,103	120	97	105		1830,1785,1785,1827,1920,1878,1878,1923,1830,1788,1881,1788,1881,1827	-1.7	0.4	2	dbSNP_100	105	6107,2493	409.6+/-349.9	2178,1751,371	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	3529,2500,474	CC,CT,TT		28.9884,21.675,26.5108	,,,,,,,,,,,,,	610/2082,595/2067,595/2088,609/2102,640/2112,626/2098,626/2119,641/2113,610/2103,596/2089,627/2099,596/2068,627/2120,609/2081	71780215	9558,3448	2203	4300	6503	SO:0001819	synonymous_variant	8291	exon21			GGATGATGCCATC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1827T>C	2.37:g.71780215T>C		Somatic	421	4		WXS	Illumina GAIIx	Phase_I	305	10	NM_001130982	0	0	6	6	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																			T|0.328;C|0.672		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		C	71780215	T	C	71780215	2	2	12	1	0	0	0	0	0	0	0	1	4873	1461	51	4		4	DYSF	2	71780215	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	46310289	71780215	171419158	14	2898											
LRP2	4036	bcgsc.ca	37	chr2	170096095	170096095	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagcctgtatcacacgagcaCcggaaagaacctctcatatt	7	12	2	1	rs34915742	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:170096095C>G	ENST00000263816.3	-	26	4521	c.4236G>C	c.(4234-4236)cgG>cgC	p.R1412R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1412	EGF-like 6; calcium-binding. {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)"	CACACGAGCACCGGAAAGAAC	0.433													C|||	266	0.053115	0.1725	0.0202	5008	,	,		18952	0		0.004	False		,,,				2504	0.0204				p.R1412R		.											.	LRP2-175	0			c.G4236C						.	C		482,3924	226.5+/-242.0	30,422,1751	143	132	136		4236	-1.6	1	2	dbSNP_126	136	55,8545	34.3+/-88.2	1,53,4246	no	coding-synonymous	LRP2	NM_004525.2		31,475,5997	GG,GC,CC		0.6395,10.9396,4.1289		1412/4656	170096095	537,12469	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon26			CGAGCACCGGAAA		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.4236G>C	2.37:g.170096095C>G		Somatic	248	3		WXS	Illumina GAIIx	Phase_I	201	7	NM_004525	0	0	0	0	0	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			C|0.714;G|0.286		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170096095	C	G	170096095	2	3	12	1	0	0	0	0	0	0	0	1	8991	494	18	3		3	LRP2	2	170096095	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	98315880	170096095	73103278	15	2899											
HOXD4	3233	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	177016766	177016766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccggccgtggtctacccCtggatgaagaaggtgcacgt	14	12	1	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:177016766C>A	ENST00000306324.3	+	1	817	c.405C>A	c.(403-405)ccC>ccA	p.P135P	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	135					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)		TGGTCTACCCCTGGATGAAGA	0.667																																					p.P135P		.											.	HOXD4-91	0			c.C405A						.						38	49	45					2																	177016766		2137	4273	6410	SO:0001819	synonymous_variant	3233	exon1			CTACCCCTGGATG		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.405C>A	2.37:g.177016766C>A		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	81	12	NM_014621	0	0	0	0	0	B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	CCDS2269.1																																																																																			.		0.667	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			A	177016766	C	A	177016766	2	1	12	1	0	0	0	0	0	0	0	1	7351	668	24	3		3	HOXD4	2	177016766	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	6920671	177016766	66182607	16	2900											
MARCH4	57574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	217124357	217124357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttgacagcctgccacCgtttaaagatgcggtacacc	11	12	0	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:217124357C>T	ENST00000273067.4	-	4	2677	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	304						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGCCTGCCACCGTTTAAAGAT	0.552																																					p.R304Q		.											.	MARCH4-69	0			c.G911A						.						75	64	67					2																	217124357		2203	4300	6503	SO:0001583	missense	57574	exon4			TGCCACCGTTTAA	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.911G>A	2.37:g.217124357C>T	ENSP00000273067:p.Arg304Gln	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	87	52	NM_020814	0	0	0	0	0	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756478	0.96898	.	.	ENSG00000144583	ENST00000273067	T	0.59906	0.23	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78851	-0.2041	10	0.66056	D	0.02	-3.9764	18.4124	0.90557	0.0:1.0:0.0:0.0	.	304	Q9P2E8	MARH4_HUMAN	Q	304	ENSP00000273067:R304Q	ENSP00000273067:R304Q	R	-	2	0	MARCH4	216832602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	CGG	.		0.552	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		T	217124357	C	T	217124357	3	4	12	1	0	0	0	0	1	0	0	0	9341	652	23	1	325	1	MARCH4	2	217124357	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	40107591	217124357	26075016	17	2901											
MYEOV2	150678	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	241066032	241066032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccttcttctccaccaGcaacggatggtgtttcatca	6	14	5	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:241066032G>T	ENST00000307266.3	-	5	706	c.707C>A	c.(706-708)gCt>gAt	p.A236D		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTCTCCACCAGCAACGGATGG	0.458																																					p.A236D		.											.	MYEOV2-68	0			c.C707A						.						139	113	122					2																	241066032		2203	4300	6503	SO:0001583	missense	150678	exon5			CCACCAGCAACGG	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.707C>A	2.37:g.241066032G>T	ENSP00000304147:p.Ala236Asp	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	156	9	NM_138336	0	0	0	0	0	Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812402	0.16537	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.09310	N	0.999998	D	0.76494	0.999	D	0.76575	0.988	T	0.36792	-0.9733	7	0.87932	D	0	.	5.4524	0.16572	0.0:0.0:1.0:0.0	.	236	Q8WXC6-1	.	D	236	.	ENSP00000304147:A236D	A	-	2	0	MYEOV2	240714705	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.252000	0.18278	0.865000	0.35603	0.591000	0.81541	GCT	.		0.458	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		T	241066032	G	T	241066032	3	4	12	1	0	0	0	0	1	0	0	0	10064	971	34	3	55	3	MYEOV2	2	241066032	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	23941675	241066032	2133341	18	2902											
KLHDC8B	200942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49211828	49211828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgggaacaagatctAtgtcctgggtaagggcctgg	14	10	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:49211828A>G	ENST00000332780.2	+	3	742	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	178						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AACAAGATCTATGTCCTGGGT	0.587																																					p.Y178C		.											.	KLHDC8B-90	0			c.A533G						.						58	54	55					3																	49211828		2203	4300	6503	SO:0001583	missense	200942	exon3			AGATCTATGTCCT		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.533A>G	3.37:g.49211828A>G	ENSP00000327468:p.Tyr178Cys	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	102	33	NM_173546	0	0	1	4	3		Missense_Mutation	SNP	ENST00000332780.2	37	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051223	0.55218	.	.	ENSG00000185909	ENST00000332780	T	0.69306	-0.39	5.4	4.12	0.48240	Kelch-type beta propeller (1);	0.217609	0.39210	N	0.001436	D	0.85066	0.5612	H	0.95574	3.69	0.52501	D	0.999957	D	0.76494	0.999	D	0.71870	0.975	D	0.88483	0.3070	10	0.87932	D	0	-32.4244	11.109	0.48221	0.8226:0.0:0.0:0.1774	.	178	Q8IXV7	KLD8B_HUMAN	C	178	ENSP00000327468:Y178C	ENSP00000327468:Y178C	Y	+	2	0	KLHDC8B	49186832	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.136000	0.50554	2.036000	0.60181	0.459000	0.35465	TAT	.		0.587	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		G	49211828	A	G	49211828	3	3	12	1	0	0	0	0	1	0	0	0	8390	449	16	4	539	4	KLHDC8B	3	49211828	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10		49211828	148810602	19	2903											
AMIGO3	29925	broad.mit.edu	37	chr3	49755684	49755684	+	3'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcagcagcggcagggTggggcgaacaggtagagcag	21	9	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:49755684T>G	ENST00000480687.1	-	0	4700				AMIGO3_ENST00000535833.1_Silent_p.P405P|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.P405P|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		agcggcagGGTGGGGCGAACA	0.672																																					p.P405P		.											.	AMIGO3-91	0			c.A1215C						.						39	40	40					3																	49755684		2199	4300	6499	SO:0001624	3_prime_UTR_variant	386724	exon1			GCAGGGTGGGGCG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3501A>C	3.37:g.49755684T>G		Somatic	55	8		WXS	Illumina GAIIx	Phase_I	92	19	NM_198722	0	0	3	5	2	A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																			.		0.672	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		G	49755684	T	G	49755684	1	3	12	0	1	0	0	0	0	0	0	0	577	1683	59	5		5	AMIGO3	3	49755684	3'UTR	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	543856	49755684	148266746	20	2904											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52554839	52554839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagccctgaggcctgctGgcgcttctacccgaagttct	13	14	2	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:52554839G>T	ENST00000321725.6	+	55	5802	c.5726G>T	c.(5725-5727)tGg>tTg	p.W1909L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1909					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)		GAGGCCTGCTGGCGCTTCTAC	0.657																																					p.W1909L		.											.	STAB1-139	0			c.G5726T						.						127	150	142					3																	52554839		2203	4300	6503	SO:0001583	missense	23166	exon55			CCTGCTGGCGCTT	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.5726G>T	3.37:g.52554839G>T	ENSP00000312946:p.Trp1909Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	58	12	NM_015136	0	0	43	43	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251336	0.22880	.	.	ENSG00000010327	ENST00000321725	D	0.83419	-1.72	5.49	3.57	0.40892	.	0.573366	0.17768	N	0.162680	T	0.69214	0.3086	N	0.20685	0.6	0.34693	D	0.725931	B	0.02656	0.0	B	0.01281	0.0	T	0.66168	-0.5991	10	0.11485	T	0.65	.	12.8876	0.58053	0.0:0.0:0.7089:0.2911	.	1909	Q9NY15	STAB1_HUMAN	L	1909	ENSP00000312946:W1909L	ENSP00000312946:W1909L	W	+	2	0	STAB1	52529879	0.966000	0.33281	1.000000	0.80357	0.722000	0.41435	1.091000	0.30915	1.419000	0.47118	0.655000	0.94253	TGG	.		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52554839	G	T	52554839	3	4	12	1	0	0	0	0	1	0	0	0	15284	1357	47	3	5944	3	STAB1	3	52554839	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	2799155	52554839	145467591	21	2905											
EEFSEC	60678	hgsc.bcm.edu	37	chr3	127872602	127872602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgagcccggcgagccActgcttcaggtcacgctggt	14	15	2	0	rs11719546	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:127872602A>G	ENST00000254730.6	+	1	306	c.252A>G	c.(250-252)ccA>ccG	p.P84P	EEFSEC_ENST00000483457.1_Silent_p.P84P|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	84	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGCGAGCCACTGCTTCAGG	0.741													A|||	685	0.136781	0.2337	0.134	5008	,	,		10616	0.0069		0.1143	False		,,,				2504	0.1646				p.P84P		.											.	EEFSEC-91	0			c.A252G						.	A		592,3228		50,492,1368	3	5	5		252	2.2	1	3	dbSNP_120	5	763,7091		37,689,3201	no	coding-synonymous	EEFSEC	NM_021937.3		87,1181,4569	GG,GA,AA		9.7148,15.4974,11.607		84/597	127872602	1355,10319	1910	3927	5837	SO:0001819	synonymous_variant	60678	exon1			CGAGCCACTGCTT		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.252A>G	3.37:g.127872602A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_021937	0	0	0	2	2	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																			A|0.881;G|0.119		0.741	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		G	127872602	A	G	127872602	2	3	12	1	0	0	0	0	0	0	0	1	4945	146	6	4		4	EEFSEC	3	127872602	Silent	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	75317763	127872602	70149828	22	2906											
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	132245070	132245070	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagatactgttggtctagCctgtgaagcaattaatcgaa	10	7	1	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:132245070C>G	ENST00000260818.6	+	53	6574	c.6326C>G	c.(6325-6327)gCc>gGc	p.A2109G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2109					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTGGTCTAGCCTGTGAAGCA	0.413																																					p.A2109G		.											.	DNAJC13-272	0			c.C6326G						.						118	113	115					3																	132245070		2203	4300	6503	SO:0001583	missense	23317	exon53			GTCTAGCCTGTGA	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6326C>G	3.37:g.132245070C>G	ENSP00000260818:p.Ala2109Gly	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	219	85	NM_015268	0	0	23	45	22	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127773	0.77549	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.63096	-0.02	5.58	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.105066	0.64402	N	0.000004	T	0.71273	0.3320	L	0.43598	1.365	0.54753	D	0.999985	D	0.69078	0.997	D	0.66084	0.941	T	0.70454	-0.4867	10	0.35671	T	0.21	.	16.8227	0.85922	0.0:0.8711:0.1289:0.0	.	2109	O75165	DJC13_HUMAN	G	2109;756	ENSP00000260818:A2109G	ENSP00000260818:A2109G	A	+	2	0	DNAJC13	133727760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.923000	0.70045	1.485000	0.48380	0.591000	0.81541	GCC	.		0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132245070	C	G	132245070	3	3	12	1	0	0	0	0	1	0	0	0	4646	739	26	3	6532	3	DNAJC13	3	132245070	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	4372468	132245070	65777360	23	2907											
IDUA	3425	hgsc.bcm.edu	37	chr4	996888	996888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacggcgagtggcggcgCctgggccggcccgtcttccc	16	18	1	0	rs115929690	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:996888C>T	ENST00000247933.4	+	10	1555	c.1467C>T	c.(1465-1467)cgC>cgT	p.R489R	IDUA_ENST00000453894.1_Silent_p.R511R|IDUA_ENST00000514224.1_Silent_p.R357R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	489			R -> P (in MPS1H; dbSNP:rs4690226). {ECO:0000269|PubMed:7951228}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCGGCGCCTGGGCCGGC	0.776													C|||	1093	0.218251	0.2489	0.111	5008	,	,		7326	0.2133		0.169	False		,,,				2504	0.3088				p.R489R		.											.	IDUA-91	0			c.C1467T						.	C		677,3347		57,563,1392	6	7	7		1467	0.7	0.3	4	dbSNP_132	7	1138,6988		82,974,3007	no	coding-synonymous	IDUA	NM_000203.3		139,1537,4399	TT,TC,CC		14.0044,16.8241,14.9383		489/654	996888	1815,10335	2012	4063	6075	SO:0001819	synonymous_variant	3425	exon10			GCGGCGCCTGGGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1467C>T	4.37:g.996888C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_000203	0	0	0	0	0	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1																																																																																			C|0.817;T|0.183		0.776	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	996888	C	T	996888	2	4	12	1	0	0	0	0	0	0	0	1	7531	726	26	3		3	IDUA	4	996888	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		996888	190157388	24	2908											
EXOC1	55763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	56737029	56737029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctaattcatcttagtaaCactaataatgtaaaactcct	2	10	2	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:56737029C>T	ENST00000381295.2	+	6	1137	c.789C>T	c.(787-789)aaC>aaT	p.N263N	EXOC1_ENST00000349598.6_Silent_p.N263N|EXOC1_ENST00000346134.7_Silent_p.N263N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	263					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)					ATCTTAGTAACACTAATAATG	0.318																																					p.N263N		.											.	EXOC1-950	0			c.C789T						.						82	87	85					4																	56737029		2203	4300	6503	SO:0001819	synonymous_variant	55763	exon6			TAGTAACACTAAT	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.789C>T	4.37:g.56737029C>T		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	191	86	NM_018261	0	0	8	9	1	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	CCDS3502.1																																																																																			.		0.318	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		T	56737029	C	T	56737029	2	4	12	1	0	0	0	0	0	0	0	1	5317	477	17	3		3	EXOC1	4	56737029	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	55740141	56737029	134417247	25	2909											
STBD1	100631383	broad.mit.edu	37	chr4	77231087	77231087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacccgctgggaagaatgCagcaatagattcctagaaac	10	9	0	3			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:77231087C>T	ENST00000237642.6	+	2	1755	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FAM47E-STBD1_ENST00000539752.1_Silent_p.C188C|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		GGGAAGAATGCAGCAATAGAT	0.473																																					p.C337C		.											.	STBD1-69	0			c.C1011T						.						139	140	139					4																	77231087		2203	4300	6503	SO:0001819	synonymous_variant	8987	exon2			AGAATGCAGCAAT		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.1011C>T	4.37:g.77231087C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	115	3	NM_003943	0	0	42	42	0		Silent	SNP	ENST00000237642.6	37	CCDS3578.1																																																																																			.		0.473	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			T	77231087	C	T	77231087	2	4	12	1	0	0	0	0	0	0	0	1	15321	718	25	3		3	STBD1	4	77231087	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	20494058	77231087	113923189	26	2910											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	12	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	587115	77818202	113336074	27	2911											
FBXO8	26269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	175158607	175158607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatattgtcataaagatGccctacaaaatcttcactaa	5	8	3	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:175158607G>A	ENST00000393674.2	-	6	1778	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	FBXO8_ENST00000503293.1_Missense_Mutation_p.H265Y	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	306					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TCATAAAGATGCCCTACAAAA	0.388																																					p.H306Y		.											.	FBXO8-290	0			c.C916T						.						93	92	93					4																	175158607		2203	4300	6503	SO:0001583	missense	26269	exon6			AAAGATGCCCTAC	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.916C>T	4.37:g.175158607G>A	ENSP00000377280:p.His306Tyr	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	83	26	NM_012180	0	0	18	36	18	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532584	0.85812	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.53857	0.6;0.6	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.28694	0.88	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.60609	0.805;0.877	T	0.64364	-0.6425	10	0.72032	D	0.01	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	265;306	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	Y	306;265;219	ENSP00000377280:H306Y;ENSP00000422905:H265Y	ENSP00000296517:H219Y	H	-	1	0	FBXO8	175395182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.844000	0.92147	2.593000	0.87608	0.655000	0.94253	CAT	.		0.388	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		A	175158607	G	A	175158607	3	1	12	1	0	0	0	0	1	0	0	0	5783	1319	46	3	47	3	FBXO8	4	175158607	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	97340405	175158607	15995669	28	2912											
PDZD2	23037	bcgsc.ca	37	chr5	32074509	32074509	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagacacccagagtccgacGaacactgggagccccagttc	10	15	0	2	rs2291113	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:32074509G>A	ENST00000438447.1	+	18	3685	c.3297G>A	c.(3295-3297)acG>acA	p.T1099T	PDZD2_ENST00000282493.3_Silent_p.T1099T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1099					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						AGAGTCCGACGAACACTGGGA	0.592													G|||	494	0.0986422	0.0318	0.1066	5008	,	,		19596	0.2232		0.0507	False		,,,				2504	0.1043				p.T1099T		.											.	PDZD2-563	0			c.G3297A						.	G		202,4204	126.6+/-163.6	2,198,2003	80	90	86		3297	3.6	0	5	dbSNP_100	86	587,8013	157.5+/-211.1	23,541,3736	no	coding-synonymous	PDZD2	NM_178140.2		25,739,5739	AA,AG,GG		6.8256,4.5847,6.0664		1099/2840	32074509	789,12217	2203	4300	6503	SO:0001819	synonymous_variant	23037	exon17			TCCGACGAACACT	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.3297G>A	5.37:g.32074509G>A		Somatic	98	1		WXS	Illumina GAIIx	Phase_I	125	5	NM_178140	0	0	0	0	0	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			G|0.922;A|0.078		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32074509	G	A	32074509	2	1	12	1	0	0	0	0	0	0	0	1	11740	1045	37	1		1	PDZD2	5	32074509	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		32074509	148840751	29	2913											
NUP155	9631	broad.mit.edu;bcgsc.ca	37	chr5	37328505	37328505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatttggatagggactacCactaggaacaggagaaccta	12	7	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:37328505C>T	ENST00000231498.3	-	17	2034	c.1831G>A	c.(1831-1833)Ggt>Agt	p.G611S	RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000381843.2_Missense_Mutation_p.G552S|NUP155_ENST00000513532.1_Missense_Mutation_p.G611S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	611	Pro-rich.				atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGGACTACCACTAGGAACA	0.348																																					p.G611S		.											.	NUP155-205	0			c.G1831A						.						84	76	79					5																	37328505		2203	4300	6503	SO:0001583	missense	9631	exon17			GACTACCACTAGG	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1831G>A	5.37:g.37328505C>T	ENSP00000231498:p.Gly611Ser	Somatic	503	0		WXS	Illumina GAIIx	Phase_I	627	18	NM_153485	0	0	6	7	1	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180276	0.21787	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76186	-1.0;-1.0;-0.99	4.86	1.98	0.26296	.	0.464686	0.25887	N	0.027659	T	0.51160	0.1658	N	0.16307	0.4	0.32288	N	0.566743	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46442	-0.9191	10	0.07325	T	0.83	-2.8704	9.008	0.36124	0.0:0.6731:0.0:0.3269	.	611;611	E9PF10;O75694	.;NU155_HUMAN	S	611;552;573;611	ENSP00000231498:G611S;ENSP00000371265:G552S;ENSP00000422019:G611S	ENSP00000231498:G611S	G	-	1	0	NUP155	37364262	0.997000	0.39634	0.998000	0.56505	0.908000	0.53690	0.500000	0.22562	0.164000	0.19529	-0.229000	0.12294	GGT	.		0.348	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		T	37328505	C	T	37328505	3	4	12	1	0	0	0	0	1	0	0	0	10795	594	21	3	2420	3	NUP155	5	37328505	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	5253996	37328505	143586755	30	2914											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	12	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	94821179	132149684	48765576	31	2915											
PCDHB10	56126	broad.mit.edu	37	chr5	140573548	140573548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatcggcagcgtcagcGccacagacagagactcgggc	13	14	1	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:140573548G>C	ENST00000239446.4	+	1	1607	c.1423G>C	c.(1423-1425)Gcc>Ccc	p.A475P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGTCAGCGCCACAGACAG	0.662																																					p.A475P		.											.	PCDHB10-92	0			c.G1423C						.						46	57	53					5																	140573548		2202	4292	6494	SO:0001583	missense	56126	exon1			GTCAGCGCCACAG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1423G>C	5.37:g.140573548G>C	ENSP00000239446:p.Ala475Pro	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	267	5	NM_018930	0	0	18	18	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.966256	0.53507	.	.	ENSG00000120324	ENST00000239446	T	0.61980	0.06	3.22	3.22	0.36961	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83603	0.5290	H	0.99357	4.53	0.42057	D	0.99114	P	0.38335	0.627	P	0.48738	0.588	D	0.90067	0.4160	9	0.87932	D	0	.	14.6181	0.68562	0.0:0.0:1.0:0.0	.	475	Q9UN67	PCDBA_HUMAN	P	475	ENSP00000239446:A475P	ENSP00000239446:A475P	A	+	1	0	PCDHB10	140553732	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.399000	0.73248	1.819000	0.53055	0.549000	0.68633	GCC	.		0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573548	G	C	140573548	3	2	12	1	0	0	0	0	1	0	0	0	11574	1087	38	2	1425	2	PCDHB10	5	140573548	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	8423864	140573548	40341712	32	2916											
GPLD1	2822	bcgsc.ca	37	chr6	24437408	24437408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagaagcggcggtctccGctgaaggtgctgagcagcag	18	10	1	3	rs61733145	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:24437408G>A	ENST00000230036.1	-	21	2240	c.2130C>T	c.(2128-2130)agC>agT	p.S710S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	710					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						GGCGGTCTCCGCTGAAGGTGC	0.557													G|||	120	0.0239617	0.028	0.0375	5008	,	,		19974	0.002		0.0398	False		,,,				2504	0.0153				p.S710S		.											.	GPLD1-228	0			c.C2130T						.	G		134,4272	95.7+/-134.4	3,128,2072	112	96	102		2130	-6.3	0.9	6	dbSNP_129	102	409,8191	129.5+/-187.6	5,399,3896	no	coding-synonymous	GPLD1	NM_001503.2		8,527,5968	AA,AG,GG		4.7558,3.0413,4.175		710/841	24437408	543,12463	2203	4300	6503	SO:0001819	synonymous_variant	2822	exon21			GTCTCCGCTGAAG	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.2130C>T	6.37:g.24437408G>A		Somatic	183	2		WXS	Illumina GAIIx	Phase_I	115	5	NM_001503	0	0	0	0	0	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																			G|0.961;A|0.039		0.557	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24437408	G	A	24437408	2	1	12	1	0	0	0	0	0	0	0	1	6640	1078	38	1		1	GPLD1	6	24437408	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		24437408	146677659	33	2917											
COL11A2	1302	ucsc.edu;bcgsc.ca	37	chr6	33138677	33138677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggtccccgagctccGggctccccatctgctccctg	11	20	1	0	rs1799911	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:33138677G>A	ENST00000374708.4	-	44	3384	c.3126C>T	c.(3124-3126)ccC>ccT	p.P1042P	COL11A2_ENST00000341947.2_Silent_p.P1128P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.P1047P|COL11A2_ENST00000374713.1_Silent_p.P1081P|COL11A2_ENST00000357486.1_Silent_p.P1107P|COL11A2_ENST00000395197.1_Silent_p.P1068P|COL11A2_ENST00000374714.1_Silent_p.P1102P|COL11A2_ENST00000361917.1_Silent_p.P1021P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1128	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCGAGCTCCGGGCTCCCCAT	0.572													G|||	1231	0.245807	0.1225	0.2579	5008	,	,		17393	0.2431		0.2525	False		,,,				2504	0.3998				p.P1128P	Melanoma(1;90 116 3946 5341 17093)	.											.	COL11A2-95	0			c.C3384T						.	G	,,	447,2575		34,379,1098	66	74	71		3063,3384,3126	-9.3	0.7	6	dbSNP_89	71	1509,3909		207,1095,1407	yes	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	241,1474,2505	AA,AG,GG		27.8516,14.7915,23.1754	,,	1021/1630,1128/1737,1042/1651	33138677	1956,6484	1511	2709	4220	SO:0001819	synonymous_variant	1302	exon46			AGCTCCGGGCTCC	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3126C>T	6.37:g.33138677G>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	35	4	NM_080680	0	0	0	0	0	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																			G|0.763;A|0.237		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33138677	G	A	33138677	2	1	12	1	0	0	0	0	0	0	0	1	3675	1103	39	1		1	COL11A2	6	33138677	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	8701269	33138677	137976390	34	2918											
MICAL1	64780	broad.mit.edu;bcgsc.ca	37	chr6	109767928	109767928	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agggcctctatcgctgccttCcgctttgtggtctgtctggg	13	12	3	0	rs552227069	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:109767928C>A	ENST00000358807.3	-	18	2586	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	MICAL1_ENST00000358577.3_Nonsense_Mutation_p.E673*|MICAL1_ENST00000368952.4_Nonsense_Mutation_p.E778*	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	759					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)		TCGCTGCCTTCCGCTTTGTGG	0.567																																					p.E759X		.											.	MICAL1-154	0			c.G2275T						.						78	70	73					6																	109767928		2203	4300	6503	SO:0001587	stop_gained	64780	exon18			TGCCTTCCGCTTT	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.2275G>T	6.37:g.109767928C>A	ENSP00000351664:p.Glu759*	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	144	6	NM_022765	0	0	1	1	0	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Nonsense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	38	6.728781	0.97792	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	.	.	.	5.61	4.56	0.56223	.	0.854162	0.10500	N	0.667355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.2843	0.43558	0.0:0.8963:0.0:0.1037	.	.	.	.	X	759;778;673;283	.	ENSP00000351385:E673X	E	-	1	0	MICAL1	109874621	0.000000	0.05858	0.024000	0.17045	0.002000	0.02628	0.449000	0.21744	2.644000	0.89710	0.561000	0.74099	GAA	.		0.567	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109767928	C	A	109767928	4	1	12	1	0	0	0	0	0	1	0	0	9607	864	30	3	960	3	MICAL1	6	109767928	Nonsense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	76629251	109767928	61347139	35	2919											
DNAH11	8701	broad.mit.edu;bcgsc.ca	37	chr7	21892238	21892238	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagaccaccgtggcagagAtagagcacaaggtaggaagg	14	8	0	3			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:21892238A>T	ENST00000409508.3	+	67	11081	c.11050A>T	c.(11050-11052)Ata>Tta	p.I3684L	DNAH11_ENST00000328843.6_Missense_Mutation_p.I3691L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3691	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						CGTGGCAGAGATAGAGCACAA	0.517									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						95	98	97					7																	21892238		2018	4195	6213	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCAGAGATAGAGC	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.11050A>T	7.37:g.21892238A>T	ENSP00000475939:p.Ile3684Leu	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	230	7	.	0	0	0	0	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.100558|4.100558	0.76983|0.76983	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000421290|ENST00000328843	.|T	.|0.59364	.|0.27	6.16|6.16	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67906|0.67906	0.2943|0.2943	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.51537	.|0.946	.|P	.|0.54060	.|0.741	T|T	0.71341|0.71341	-0.4622|-0.4622	4|9	.|0.87932	.|D	.|0	.|.	12.253|12.253	0.54610|0.54610	0.9334:0.0:0.0666:0.0|0.9334:0.0:0.0666:0.0	.|.	.|3691	.|Q96DT5	.|DYH11_HUMAN	V|L	78|3691	.|ENSP00000330671:I3691L	.|ENSP00000330671:I3691L	D|I	+|+	2|1	0|0	DNAH11|DNAH11	21858763|21858763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.425000|0.425000	0.31504|0.31504	6.238000|6.238000	0.72350|0.72350	1.143000|1.143000	0.42306|0.42306	0.528000|0.528000	0.53228|0.53228	GAT|ATA	.		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21892238	A	T	21892238	3	4	12	1	0	0	0	0	1	0	0	0	4613	333	12	5	11338	5	DNAH11	7	21892238	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10		21892238	137246425	36	2920											
GHRHR	2692	broad.mit.edu;bcgsc.ca	37	chr7	31016898	31016898	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttggacccacagggCttcattgttgccatcctcta	7	13	4	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:31016898C>A	ENST00000326139.2	+	12	1153	c.1107C>A	c.(1105-1107)ggC>ggA	p.G369G	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Silent_p.G305G|GHRHR_ENST00000409316.1_Missense_Mutation_p.L136I	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	369					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACCCACAGGGCTTCATTGTTG	0.547																																					p.G369G		.											.	GHRHR-586	0			c.C1107A						.						217	190	199					7																	31016898		2203	4300	6503	SO:0001819	synonymous_variant	2692	exon12			ACAGGGCTTCATT		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1107C>A	7.37:g.31016898C>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	208	7	NM_000823	0	0	0	0	0	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	c	7.516	0.655577	0.14580	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.25	-1.67	0.08238	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.80722	D	1	B	0.17667	0.023	B	0.18871	0.023	T	0.11299	-1.0593	7	0.24483	T	0.36	.	1.7958	0.03061	0.1312:0.3996:0.1287:0.3404	.	136	Q9HB43	.	I	157;136	.	ENSP00000386919:L157I	L	+	1	0	GHRHR	30983423	0.000000	0.05858	0.979000	0.43373	0.324000	0.28378	-2.246000	0.01191	-0.050000	0.13356	0.645000	0.84053	CTT	.		0.547	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			A	31016898	C	A	31016898	2	1	12	1	0	0	0	0	0	0	0	1	6399	784	28	3		3	GHRHR	7	31016898	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	9124660	31016898	128121765	37	2921											
ZNF394	84124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	99092230	99092230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcattggaatcaactctTtgttctccactctgctttcc	6	12	4	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:99092230T>C	ENST00000337673.6	-	3	811	c.608A>G	c.(607-609)aAa>aGa	p.K203R	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.K161E|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	203	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATCAACTCTTTGTTCTCCAC	0.468																																					p.K203R	Ovarian(24;589 697 9939 12704 40742)	.											.	ZNF394-90	0			c.A608G						.						61	64	63					7																	99092230		2202	4300	6502	SO:0001583	missense	84124	exon3			AACTCTTTGTTCT	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.608A>G	7.37:g.99092230T>C	ENSP00000337363:p.Lys203Arg	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	46	24	NM_032164	0	0	1	6	5	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	CCDS5666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.02|11.02	1.517096|1.517096	0.27123|0.27123	.|.	.|.	ENSG00000160908|ENSG00000160908	ENST00000426306|ENST00000337673	T|T	0.03717|0.05717	3.83|3.4	3.97|3.97	-1.35|-1.35	0.09114|0.09114	.|Krueppel-associated box (3);	0.438058|0.438058	0.19541|0.19541	N|N	0.111801|0.111801	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.25286|0.25286	0.73|0.73	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.43750|0.43750	-0.9372|-0.9372	8|10	0.29301|0.18276	T|T	0.29|0.48	.|.	4.2208|4.2208	0.10556|0.10556	0.0:0.2075:0.3739:0.4186|0.0:0.2075:0.3739:0.4186	.|.	.|203	.|Q53GI3	.|ZN394_HUMAN	E|R	161|203	ENSP00000409565:K161E|ENSP00000337363:K203R	ENSP00000409565:K161E|ENSP00000337363:K203R	K|K	-|-	1|2	0|0	ZNF394|ZNF394	98930166|98930166	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.360000|0.360000	0.29518|0.29518	-0.329000|-0.329000	0.07935|0.07935	-0.229000|-0.229000	0.09854|0.09854	0.533000|0.533000	0.62120|0.62120	AAG|AAA	.		0.468	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		C	99092230	T	C	99092230	3	2	12	1	0	0	0	0	1	0	0	0	17928	1841	64	4	1081	4	ZNF394	7	99092230	Missense_Mutation	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	68075332	99092230	60046433	38	2922											
SLC25A37	51312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	23429210	23429211	+	Missense_Mutation	DNP	CG	CG	TT													cgggtatggccaatgccttcCggacggtgtaccagctcaac							TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr8:23429210_23429211CG>TT	ENST00000519973.1	+	4	1057_1058	c.859_860CG>TT	c.(859-861)CGg>TTg	p.R287L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTAC	0.604																																					p.R287L		.											.	SLC25A37-90	0			c.G860T						.																																			SO:0001583	missense	51312	exon4			CCTTCCGGACGGT	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	Exception_encountered	8.37:g.23429210_23429211delinsTT	ENSP00000429200:p.Arg287Leu	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	116	12	NM_016612	0	0	0	0	0	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	DNP	ENST00000519973.1	37	CCDS47828.1																																																																																			.		0.604	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		TT	23429211	CG	TT	23429210	3	4	12	1	0	0	0	0	1	0	0	0	14546	643	23	1	873	1	SLC25A37	8	23429210	Missense_Mutation	DNP	CG	TCGA-OR-A5JD-01A-11D-A29I-10		23429210	122934812	39	2923											
CHMP4C	92421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	82667643	82667644	+	Frame_Shift_Ins	INS	-	-	A													gatttgatgcaagagatcacINSagagcaacaggatatcgccc							TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr8:82667643_82667644insA	ENST00000297265.4	+	3	600_601	c.407_408insA	c.(406-411)acagagfs	p.E137fs		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	137	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CAAGAGATCACAGAGCAACAGG	0.347																																					p.T136fs		.											.	CHMP4C-92	0			c.407_408insA						.																																			SO:0001589	frameshift_variant	92421	exon3			AGATCACAGAGCA	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.408dupA	8.37:g.82667644_82667644dupA	ENSP00000297265:p.Glu137fs	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	176	63	NM_152284	0	0	0	0	0	B2RBZ1	Frame_Shift_Ins	INS	ENST00000297265.4	37	CCDS6233.1																																																																																			.		0.347	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		A	82667644	-	A	82667643	7	5	12	1	0	1	1	0	0	0	0	0	3365	478	17	0	417	0	CHMP4C	8	82667643	Frame_Shift_Ins	INS	-	TCGA-OR-A5JD-01A-11D-A29I-10	59238433	82667643	63696379	40	2924											
FAM22F	54754	broad.mit.edu	37	chr9	97080951	97080951	+	Frame_Shift_Del	DEL	T	T	-													gacttgctggcaggagaaggTgatgggctgaggcctctttt							TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr9:97080951delT	ENST00000253262.4	-	7	2087	c.2067delA	c.(2065-2067)tcafs	p.S689fs	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Frame_Shift_Del_p.S674fs	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	689																	CAGGAGAAGGTGATGGGCTGA	0.617																																					p.S689fs		.											.	FAM22F-68	0			c.2067delA						.						28	24	26					9																	97080951		1858	4072	5930	SO:0001589	frameshift_variant	54754	exon7			AGAAGGTGATGGG		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2067delA	9.37:g.97080951delT	ENSP00000253262:p.Ser689fs	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	284	7	NM_017561	0	0	0	0	0	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Frame_Shift_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																			.		0.617	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		-	97080951	T	-	97080951	7	5	12	1	0	1	0	1	0	0	0	0	5564	1683	59	0	207	0	FAM22F	9	97080951	Frame_Shift_Del	DEL	T	TCGA-OR-A5JD-01A-11D-A29I-10		97080951	44132480	41	2925											
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	12	1	0	0	0	0	1	0	0	0	17337	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	34337877	131418828	9794603	42	2926											
STOX1	219736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70644430	70644430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcggagcaccacatttGtgagagcaccaaacctttac	9	12	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr10:70644430G>A	ENST00000298596.6	+	3	961	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	STOX1_ENST00000399169.4_Missense_Mutation_p.C293Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.C183Y	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	293						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CACCACATTTGTGAGAGCACC	0.463																																					p.C293Y		.											.	STOX1-92	0			c.G878A						.						118	118	118					10																	70644430		1920	4129	6049	SO:0001583	missense	219736	exon3			ACATTTGTGAGAG	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.878G>A	10.37:g.70644430G>A	ENSP00000298596:p.Cys293Tyr	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	138	63	NM_152709	0	0	0	0	0	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843578	0.32606	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74632	-0.86;-0.86;-0.54	6.08	0.875	0.19130	.	1.380690	0.04817	U	0.436176	T	0.75295	0.3830	M	0.69823	2.125	0.09310	N	1	P	0.45902	0.868	P	0.45577	0.486	T	0.60244	-0.7301	10	0.66056	D	0.02	.	4.5907	0.12306	0.1244:0.226:0.5326:0.117	.	293	Q6ZVD7	STOX1_HUMAN	Y	293;293;183	ENSP00000382121:C293Y;ENSP00000298596:C293Y;ENSP00000394509:C183Y	ENSP00000298596:C293Y	C	+	2	0	STOX1	70314436	0.997000	0.39634	0.001000	0.08648	0.451000	0.32288	3.420000	0.52735	0.159000	0.19401	0.591000	0.81541	TGT	.		0.463	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		A	70644430	G	A	70644430	3	1	12	1	0	0	0	0	1	0	0	0	15366	1377	48	3	888	3	STOX1	10	70644430	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		70644430	64890317	43	2927											
OR52K2	119774	broad.mit.edu	37	chr11	4470956	4470956	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctatgtggctatctgCaagccactgcactacaccaa	8	14	1	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:4470956C>A	ENST00000325719.4	+	1	432	c.387C>A	c.(385-387)tgC>tgA	p.C129*	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCTATCTGCAAGCCACTGC	0.562																																					p.C129X		.											.	OR52K2-70	0			c.C387A						.						103	90	94					11																	4470956		2201	4298	6499	SO:0001587	stop_gained	119774	exon1			TATCTGCAAGCCA	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.387C>A	11.37:g.4470956C>A	ENSP00000318956:p.Cys129*	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	142	4	NM_001005172	0	0	0	0	0	A8MUY8|B2RP35|Q6IFK4	Nonsense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788326	0.49997	.	.	ENSG00000181963	ENST00000325719	.	.	.	4.16	-0.738	0.11125	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5072	0.33195	0.0:0.4161:0.0:0.5839	.	.	.	.	X	129	.	ENSP00000318956:C129X	C	+	3	2	OR52K2	4427532	0.000000	0.05858	0.998000	0.56505	0.569000	0.35902	-0.359000	0.07632	-0.011000	0.14247	0.479000	0.44913	TGC	.		0.562	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		A	4470956	C	A	4470956	4	1	12	1	0	0	0	0	0	1	0	0	11163	718	25	3	389	3	OR52K2	11	4470956	Nonsense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		4470956	130535560	44	2928											
OR10W1	81341	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	58034971	58034971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggagagggtactgcaaCgggtggcaaatggccacata	15	7	0	2	rs200368241	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532													t|||	4	0.000798722	8e-04	0.0014	5008	,	,		23338	0		0	False		,,,				2504	0.002				p.P120P		.											.	OR10W1-69	1	Substitution - coding silent(1)	lung(1)	c.G360A						.	T		1,4401	2.1+/-5.4	0,1,2200	117	80	92		360	-11.6	0	11		92	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR10W1	NM_207374.3		0,3,6493	TT,TC,CC		0.0233,0.0227,0.0231		120/306	58034971	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	81341	exon1			CTGCAACGGGTGG	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.360G>A	11.37:g.58034971C>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	95	8	NM_207374	0	0	0	0	0	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	CCDS7968.1																																																																																			C|0.999;T|0.001		0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		T	58034971	C	T	58034971	2	4	12	1	0	0	0	0	0	0	0	1	10960	523	19	1		1	OR10W1	11	58034971	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	53564015	58034971	76971545	45	2929											
TMEM132A	54972	hgsc.bcm.edu	37	chr11	60701987	60701987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccgctgcagaggcgtcGgatgaggccgagcggcgcgc	18	13	0	2	rs7715	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		.											.	TMEM132A-227	0			c.G1590A						.	A	,	942,1508		213,516,496	2	2	2		1590,1587	-7.2	0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_017870	0	0	0	29	29	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.581;A|0.419		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		A	60701987	G	A	60701987	2	1	12	1	0	0	0	0	0	0	0	1	16092	1103	39	1		1	TMEM132A	11	60701987	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	2667016	60701987	74304529	46	2930											
B4GALNT3	283358	bcgsc.ca	37	chr12	657404	657404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcttccagtggcgacGgaacgaccctggagccaagt	11	14	2	0	rs11063529	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:657404G>A	ENST00000266383.5	+	9	807	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	265			R -> Q (in dbSNP:rs11063529).		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)			CAGTGGCGACGGAACGACCCT	0.582													G|||	899	0.179513	0.1467	0.1254	5008	,	,		19647	0.1706		0.2525	False		,,,				2504	0.1963				p.R265Q		.											.	B4GALNT3-92	0			c.G794A						.	G	GLN/ARG	750,3656	309.1+/-290.9	62,626,1515	134	103	114		794	1.8	0.8	12	dbSNP_120	114	2010,6590	351.3+/-328.2	235,1540,2525	yes	missense	B4GALNT3	NM_173593.3	43	297,2166,4040	AA,AG,GG		23.3721,17.0222,21.221	benign	265/999	657404	2760,10246	2203	4300	6503	SO:0001583	missense	283358	exon9			GGCGACGGAACGA	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.794G>A	12.37:g.657404G>A	ENSP00000266383:p.Arg265Gln	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	227	8	NM_173593	0	0	0	0	0	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	420	0.19230769230769232	89	0.18089430894308944	62	0.1712707182320442	85	0.1486013986013986	184	0.24274406332453827	G	11.78	1.740922	0.30865	0.170222	0.233721	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.23950	1.88;1.88	4.97	1.81	0.25067	PA14 (2);	0.304442	0.31051	N	0.008359	T	0.00012	0.0000	L	0.31752	0.955	0.38672	P	0.047668000000000044	P;P	0.40398	0.716;0.469	B;B	0.25405	0.06;0.035	T	0.40942	-0.9536	9	0.17832	T	0.49	-18.8557	4.382	0.11299	0.2013:0.0:0.4489:0.3498	rs11063529;rs17800762;rs59340019;rs11063529	167;265	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	Q	265;167	ENSP00000266383:R265Q;ENSP00000322953:R167Q	ENSP00000266383:R265Q	R	+	2	0	B4GALNT3	527665	1.000000	0.71417	0.764000	0.31436	0.285000	0.27093	2.952000	0.49097	1.075000	0.40932	-0.258000	0.10820	CGG	G|0.799;A|0.201		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	657404	G	A	657404	3	1	12	1	0	0	0	0	1	0	0	0	1269	1116	39	1	828	1	B4GALNT3	12	657404	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		657404	133194491	47	2931											
CLEC4C	170482	bcgsc.ca	37	chr12	7894056	7894056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgacgcaggtcaggcttgGatgatactgttgatactctc	11	9	2	3	rs73056605	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:7894056G>A	ENST00000542353.1	-	4	686	c.196C>T	c.(196-198)Cca>Tca	p.P66S	CLEC4C_ENST00000360345.3_Missense_Mutation_p.P66S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P35S|CLEC4C_ENST00000354629.5_Missense_Mutation_p.P35S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	66				P -> S (in Ref. 3; AAQ88590). {ECO:0000305}.	innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P66S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GTCAGGCTTGGATGATACTGT	0.428													G|||	936	0.186901	0.0446	0.3285	5008	,	,		-128	0.1994		0.2962	False		,,,				2504	0.1534				p.P66S		.											.	CLEC4C-93	1	Substitution - Missense(1)	stomach(1)	c.C196T						.	G	SER/PRO,SER/PRO	398,4008	197.1+/-221.3	21,356,1826	206	173	184		196,103	-1.3	0	12	dbSNP_130	184	2458,6142	406.9+/-349.0	375,1708,2217	yes	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	74,74	396,2064,4043	AA,AG,GG		28.5814,9.0331,21.9591	benign,benign	66/214,35/183	7894056	2856,10150	2203	4300	6503	SO:0001583	missense	170482	exon4			GGCTTGGATGATA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.196C>T	12.37:g.7894056G>A	ENSP00000440428:p.Pro66Ser	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	196	7	NM_130441	0	0	0	0	0	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	499	0.22847985347985347	24	0.04878048780487805	123	0.3397790055248619	132	0.23076923076923078	220	0.29023746701846964	G	0.005	-2.238978	0.00274	0.090331	0.285814	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02121	4.49;4.44;4.44;4.49	1.79	-1.29	0.09288	.	.	.	.	.	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B;B	0.19583	0.0;0.037	B;B	0.14023	0.004;0.01	T	0.36432	-0.9748	8	0.05620	T	0.96	.	4.8437	0.13503	0.5335:0.0:0.4665:0.0	.	35;66	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	S	66;35;35;66	ENSP00000440428:P66S;ENSP00000346648:P35S;ENSP00000445338:P35S;ENSP00000353500:P66S	ENSP00000346648:P35S	P	-	1	0	CLEC4C	7785323	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.053000	0.11846	-0.356000	0.08187	-0.351000	0.07748	CCA	G|0.766;A|0.234		0.428	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		A	7894056	G	A	7894056	3	1	12	1	0	0	0	0	1	0	0	0	3520	1174	41	3	461	3	CLEC4C	12	7894056	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	7236652	7894056	125957839	48	2932											
TBX5	6910	broad.mit.edu	37	chr12	114793360	114793360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctattgtcgctccactctgGcaccatgccaactccgtgca	8	16	1	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:114793360G>T	ENST00000310346.4	-	9	2200	c.1534C>A	c.(1534-1536)Cca>Aca	p.P512T	TBX5_ENST00000405440.2_Missense_Mutation_p.P512T|TBX5_ENST00000349716.5_Missense_Mutation_p.P462T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	512				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCCACTCTGGCACCATGCCA	0.532																																					p.P512T	NSCLC(152;1358 1980 4050 23898 40356)	.											.	TBX5-98	0			c.C1534A						.						48	46	47					12																	114793360		2203	4300	6503	SO:0001583	missense	6910	exon9			ACTCTGGCACCAT	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1534C>A	12.37:g.114793360G>T	ENSP00000309913:p.Pro512Thr	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	122	4	NM_000192	0	0	0	0	0	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952366	0.73787	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.87966	-2.27;-2.32;-2.32	5.31	4.39	0.52855	.	0.369078	0.30723	N	0.009020	D	0.82678	0.5089	L	0.47716	1.5	0.80722	D	1	P	0.37781	0.608	B	0.32465	0.146	T	0.82959	-0.0198	10	0.59425	D	0.04	.	15.6497	0.77081	0.0:0.1378:0.8622:0.0	.	512	Q99593	TBX5_HUMAN	T	462;512;512	ENSP00000337723:P462T;ENSP00000309913:P512T;ENSP00000384152:P512T	ENSP00000309913:P512T	P	-	1	0	TBX5	113277743	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	1.183000	0.42943	0.655000	0.94253	CCA	.		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114793360	G	T	114793360	3	4	12	1	0	0	0	0	1	0	0	0	15708	1203	42	3	26	3	TBX5	12	114793360	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	106899304	114793360	19058535	49	2933											
EFHA1	221154	hgsc.bcm.edu	37	chr13	22178258	22178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgccccaggccgccacCcgcgcgcagctacccgcagc	10	22	0	0	rs9509812	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3	3	3		30	-1.6	0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_152726	0	0	0	6	6	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		T	22178258	C	T	22178258	2	4	12	1	0	0	0	0	0	0	0	1	4957	610	22	3		3	EFHA1	13	22178258	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		22178258	92991620	50	2934											
SACS	26278	hgsc.bcm.edu;bcgsc.ca	37	chr13	23906646	23906646	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcaacccctcgcaacTgaaaacgaaattcccttttt	4	13	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:23906646T>A	ENST00000382292.3	-	9	11642	c.11369A>T	c.(11368-11370)cAg>cTg	p.Q3790L	SACS_ENST00000402364.1_Missense_Mutation_p.Q3040L|SACS_ENST00000382298.3_Missense_Mutation_p.Q3790L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3790					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)		CCCTCGCAACTGAAAACGAAA	0.378																																					p.Q3790L		.											.	SACS-298	0			c.A11369T						.						95	87	90					13																	23906646		2203	4299	6502	SO:0001583	missense	26278	exon10			CGCAACTGAAAAC	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.11369A>T	13.37:g.23906646T>A	ENSP00000371729:p.Gln3790Leu	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	70	4	NM_014363	0	0	1	1	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152999	0.38021	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.22;-2.36;-2.22	5.67	5.67	0.87782	.	0.058221	0.64402	D	0.000002	T	0.81645	0.4866	L	0.29908	0.895	0.44603	D	0.997572	P	0.38335	0.627	B	0.29598	0.104	T	0.82402	-0.0475	10	0.42905	T	0.14	.	15.9137	0.79491	0.0:0.0:0.0:1.0	.	3790	Q9NZJ4	SACS_HUMAN	L	3790;3040;3790	ENSP00000371729:Q3790L;ENSP00000385844:Q3040L;ENSP00000371735:Q3790L	ENSP00000371729:Q3790L	Q	-	2	0	SACS	22804646	1.000000	0.71417	0.996000	0.52242	0.206000	0.24218	6.221000	0.72243	2.159000	0.67721	0.383000	0.25322	CAG	.		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23906646	T	A	23906646	3	1	12	1	0	0	0	0	1	0	0	0	13849	1580	55	5	2374	5	SACS	13	23906646	Missense_Mutation	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	1728388	23906646	91263232	51	2935											
PABPC3	5042	bcgsc.ca	37	chr13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgaaagtggaaaatccAaaggatttggatttgtaagc	11	5	0	1	rs78826513	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {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)			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)		TGGAAAATCCAAAGGATTTGG	0.418																																					p.K231E		.											.	PABPC3-72	0			c.A691G						.						81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	5042	exon1			AAATCCAAAGGAT	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.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	77	6	NM_030979	0	0	158	158	0	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	A|0.500;G|0.500		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25671027	A	G	25671027	3	3	12	1	0	0	0	0	1	0	0	0	11404	131	5	4	693	4	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10	1764381	25671027	89498851	52	2936											
FRY	10129	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	32810275	32810275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggataacttgtctgactgcTtgaagaacagtgacctccta	9	9	1	4			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:32810275T>C	ENST00000380250.3	+	43	6272	c.5776T>C	c.(5776-5778)Ttg>Ctg	p.L1926L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1926						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)		GTCTGACTGCTTGAAGAACAG	0.438																																					p.L1926L		.											.	FRY-142	0			c.T5776C						.						141	136	138					13																	32810275		1922	4141	6063	SO:0001819	synonymous_variant	10129	exon43			GACTGCTTGAAGA	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.5776T>C	13.37:g.32810275T>C		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	98	7	NM_023037	0	0	5	5	0	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																			.		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		C	32810275	T	C	32810275	2	2	12	1	0	0	0	0	0	0	0	1	6087	1606	56	4		4	FRY	13	32810275	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	7139248	32810275	82359603	53	2937											
UGGT2	55757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	96579505	96579505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtactgctggttagtaCgcaaaatcaaagtatttata	9	5	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:96579505C>A	ENST00000376747.3	-	18	2133	c.2063G>T	c.(2062-2064)cGt>cTt	p.R688L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	688					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTGGTTAGTACGCAAAATCAA	0.289																																					p.R688L		.											.	UGGT2-92	0			c.G2063T						.						72	74	73					13																	96579505		2202	4294	6496	SO:0001583	missense	55757	exon18			TTAGTACGCAAAA	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2063G>T	13.37:g.96579505C>A	ENSP00000365938:p.Arg688Leu	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	137	6	NM_020121	0	0	0	0	0	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	c	5.889	0.348126	0.11126	.	.	ENSG00000102595	ENST00000376747	T	0.29655	1.56	5.95	0.777	0.18538	.	0.579374	0.20664	N	0.087963	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.54805	T	0.06	1.3507	5.5367	0.17016	0.0:0.4758:0.1817:0.3424	.	688	Q9NYU1	UGGG2_HUMAN	L	688	ENSP00000365938:R688L	ENSP00000365938:R688L	R	-	2	0	UGGT2	95377506	0.001000	0.12720	0.001000	0.08648	0.206000	0.24218	0.344000	0.19962	0.139000	0.18822	-0.295000	0.09555	CGT	.		0.289	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		A	96579505	C	A	96579505	3	1	12	1	0	0	0	0	1	0	0	0	16991	536	19	2	2575	2	UGGT2	13	96579505	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	63769230	96579505	18590373	54	2938											
NDUFB1	4707	bcgsc.ca	37	chr14	92588002	92588002	+	5'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcagcctcagcgccTacagcgaccccgagaccaag	9	19	1	1	rs3818263	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr14:92588002T>G	ENST00000553514.1	-	0	66				NDUFB1_ENST00000555441.1_5'Flank|CPSF2_ENST00000298875.4_5'Flank|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000329559.3_Silent_p.V40V|NDUFB1_ENST00000556555.1_5'UTR			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CCTCAGCGCCTACAGCGACCC	0.711													G|||	2703	0.539736	0.5514	0.379	5008	,	,		10980	0.8552		0.334	False		,,,				2504	0.5245				p.V40V		.											.	NDUFB1-90	0			c.A120C						.	G		2232,2174		573,1086,544	33	39	37		120	-7	0	14	dbSNP_107	37	2915,5681		489,1937,1872	no	coding-synonymous	NDUFB1	NM_004545.3		1062,3023,2416	GG,GT,TT		33.9111,49.3418,39.5862		40/106	92588002	5147,7855	2203	4298	6501	SO:0001623	5_prime_UTR_variant	4707	exon1			AGCGCCTACAGCG	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"Mitochondrial respiratory chain complex / Complex I"	7695	protein-coding gene	gene with protein product	"complex I MNLL subunit"	603837	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-140A>C	14.37:g.92588002T>G		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	115	6	NM_004545	0	0	443	443	0	A0AV68	Silent	SNP	ENST00000553514.1	37																																																																																				T|0.520;G|0.480		0.711	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545		G	92588002	T	G	92588002	1	3	12	0	1	0	0	0	0	0	0	0	10317	1509	53	5		5	NDUFB1	14	92588002	5'UTR	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10		92588002	14761538	55	2939											
ARNT2	9915	bcgsc.ca	37	chr15	80884025	80884025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactcccaccagcagcccGgtcagactgaagtgttccag	10	15	1	2	rs4072568	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr15:80884025G>A	ENST00000303329.4	+	18	2200	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ARNT2_ENST00000533983.1_Missense_Mutation_p.G668S|ARNT2_ENST00000527771.1_Missense_Mutation_p.G668S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	679			G -> S (in dbSNP:rs4072568). {ECO:0000269|PubMed:9205841}.		central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCAGCAGCCCGGTCAGACTGA	0.637													G|||	561	0.112021	0.1377	0.1066	5008	,	,		18357	0.003		0.166	False		,,,				2504	0.138				p.G679S		.											.	ARNT2-175	0			c.G2035A						.	G	SER/GLY	602,3804	263.8+/-265.7	33,536,1634	111	107	108		2035	1.7	1	15	dbSNP_108	108	1684,6916	309.4+/-309.4	182,1320,2798	yes	missense	ARNT2	NM_014862.3	56	215,1856,4432	AA,AG,GG		19.5814,13.6632,17.5765	benign	679/718	80884025	2286,10720	2203	4300	6503	SO:0001583	missense	9915	exon18			CAGCCCGGTCAGA	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.2035G>A	15.37:g.80884025G>A	ENSP00000307479:p.Gly679Ser	Somatic	221	1		WXS	Illumina GAIIx	Phase_I	152	6	NM_014862	0	0	2	2	0	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	239	0.10943223443223443	72	0.14634146341463414	45	0.12430939226519337	0	0.0	122	0.16094986807387862	G	10.84	1.462974	0.26248	0.136632	0.195814	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.03920	3.76	5.07	1.74	0.24563	.	0.276124	0.39274	N	0.001420	T	0.00012	0.0000	N	0.02011	-0.69	0.35400	P	0.20852800000000005	B	0.06786	0.001	B	0.06405	0.002	T	0.46992	-0.9151	9	0.11794	T	0.64	.	6.8547	0.24034	0.4281:0.0:0.5719:0.0	rs4072568;rs17608916;rs52827902;rs56876472;rs4072568	679	Q9HBZ2	ARNT2_HUMAN	S	668;679	ENSP00000307479:G679S	ENSP00000307479:G679S	G	+	1	0	ARNT2	78671080	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	2.649000	0.46656	0.533000	0.28675	0.313000	0.20887	GGT	G|0.856;A|0.144		0.637	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80884025	G	A	80884025	3	1	12	1	0	0	0	0	1	0	0	0	967	1116	39	1	2105	1	ARNT2	15	80884025	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		80884025	21647367	56	2940											
SRRM2	23524	broad.mit.edu	37	chr16	2820442	2820442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgccgtccctcgccccAgccctcaccacgggaccagc	10	22	1	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:2820442A>G	ENST00000301740.8	+	13	8660	c.8111A>G	c.(8110-8112)cAg>cGg	p.Q2704R	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2704	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCTCGCCCCAGCCCTCACCA	0.637																																					p.Q2704R		.											.	SRRM2-93	0			c.A8111G						.						25	22	23					16																	2820442		2197	4299	6496	SO:0001583	missense	23524	exon13			CGCCCCAGCCCTC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8111A>G	16.37:g.2820442A>G	ENSP00000301740:p.Gln2704Arg	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	104	3	NM_016333	0	0	327	327	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	3.993	-0.003993	0.07773	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000382300	T	0.27720	1.65	5.31	5.31	0.75309	.	0.110995	0.40818	N	0.001002	T	0.17916	0.0430	N	0.19112	0.55	0.26920	N	0.96671	B	0.33694	0.421	B	0.27500	0.08	T	0.14755	-1.0461	10	0.46703	T	0.11	-10.3699	9.4472	0.38703	0.8212:0.1788:0.0:0.0	.	2704	Q9UQ35	SRRM2_HUMAN	R	2704;2286;185	ENSP00000301740:Q2704R	ENSP00000301740:Q2704R	Q	+	2	0	SRRM2	2760443	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.275000	0.51639	2.018000	0.59344	0.533000	0.62120	CAG	.		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2820442	A	G	2820442	3	3	12	1	0	0	0	0	1	0	0	0	15216	188	7	4	8157	4	SRRM2	16	2820442	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10		2820442	87534311	57	2941											
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	31477224	31477224	+	Frame_Shift_Del	DEL	G	G	-													ctgagtcgccctttggggttGgggccctgacgcacctgctg							TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:31477224delG	ENST00000563544.1	+	6	2464	c.1918delG	c.(1918-1920)gggfs	p.G640fs	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Frame_Shift_Del_p.G735fs|ARMC5_ENST00000538189.1_Frame_Shift_Del_p.G672fs|ARMC5_ENST00000268314.4_Frame_Shift_Del_p.G640fs|ARMC5_ENST00000412665.2_Frame_Shift_Del_p.G284fs			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	640										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTTGGGGTTGGGGCCCTGAC	0.637																																					p.G640fs		.											.	ARMC5-24	0			c.1918delG						.						41	50	47					16																	31477224		2182	4289	6471	SO:0001589	frameshift_variant	79798	exon5			GGGGTTGGGGCCC	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.1918delG	16.37:g.31477224delG	ENSP00000456877:p.Gly640fs	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	55	24	NM_001105247	0	0	0	0	0	Q86WM9|Q9H7P8|Q9H925	Frame_Shift_Del	DEL	ENST00000563544.1	37	CCDS45472.1																																																																																			.		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		-	31477224	G	-	31477224	7	5	12	1	0	1	0	1	0	0	0	0	955	1348	47	0	2250	0	ARMC5	16	31477224	Frame_Shift_Del	DEL	G	TCGA-OR-A5JD-01A-11D-A29I-10	28656782	31477224	58877529	58	2942											
KIFC3	3801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	57793684	57793684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatccagggcggctactgGtcccagagctgggggctgag	18	10	0	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:57793684G>A	ENST00000379655.4	-	18	2689	c.2432C>T	c.(2431-2433)aCc>aTc	p.T811I	KIFC3_ENST00000421376.2_Missense_Mutation_p.T672I|KIFC3_ENST00000539578.1_Missense_Mutation_p.T753I|KIFC3_ENST00000562903.1_Missense_Mutation_p.T672I|KIFC3_ENST00000541240.1_Missense_Mutation_p.T833I|KIFC3_ENST00000540079.2_Missense_Mutation_p.T709I|KIFC3_ENST00000445690.2_Missense_Mutation_p.T811I|KIFC3_ENST00000543930.1_Missense_Mutation_p.T669I|KIFC3_ENST00000465878.2_Missense_Mutation_p.T672I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	811					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCGGCTACTGGTCCCAGAGCT	0.692																																					p.T811I		.											.	KIFC3-91	0			c.C2432T						.						23	28	26					16																	57793684		2198	4300	6498	SO:0001583	missense	3801	exon18			CTACTGGTCCCAG	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2432C>T	16.37:g.57793684G>A	ENSP00000368976:p.Thr811Ile	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	130	7	NM_001130100	0	0	20	20	0	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039475	0.19669	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74737	-0.82;-0.82;-0.79;-0.83;-0.79;-0.87;-0.79	5.52	4.57	0.56435	.	1.500450	0.03634	N	0.238368	T	0.61949	0.2388	N	0.12182	0.205	0.26568	N	0.973618	B;B;B;B;B;B	0.17038	0.008;0.012;0.001;0.003;0.02;0.001	B;B;B;B;B;B	0.20955	0.006;0.032;0.004;0.013;0.004;0.006	T	0.52117	-0.8618	10	0.51188	T	0.08	.	8.0505	0.30575	0.1901:0.0:0.8099:0.0	.	833;753;669;709;811;672	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	I	811;811;672;833;709;669;753	ENSP00000368976:T811I;ENSP00000401696:T811I;ENSP00000396399:T672I;ENSP00000442008:T833I;ENSP00000438805:T709I;ENSP00000444012:T669I;ENSP00000444884:T753I	ENSP00000368976:T811I	T	-	2	0	KIFC3	56351185	0.497000	0.26067	0.066000	0.19879	0.221000	0.24807	2.643000	0.46604	1.338000	0.45544	0.555000	0.69702	ACC	.		0.692	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		A	57793684	G	A	57793684	3	1	12	1	0	0	0	0	1	0	0	0	8341	1261	44	3	86	3	KIFC3	16	57793684	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	26316460	57793684	32561069	59	2943											
CSNK2A2	1459	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	58200519	58200519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgttgaagtgtggatctaGgtctatgtgatacttcttca	10	6	4	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:58200519G>A	ENST00000262506.3	-	9	979	c.796C>T	c.(796-798)Cta>Tta	p.L266L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TGTGGATCTAGGTCTATGTGA	0.428																																					p.L266L	Melanoma(54;119 1219 18349 35700 39738)	.											.	CSNK2A2-790	0			c.C796T						.						241	198	213					16																	58200519		2198	4300	6498	SO:0001819	synonymous_variant	1459	exon9			GATCTAGGTCTAT	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.796C>T	16.37:g.58200519G>A		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	130	58	NM_001896	0	0	16	23	7		Silent	SNP	ENST00000262506.3	37	CCDS10794.1																																																																																			.		0.428	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		A	58200519	G	A	58200519	2	1	12	1	0	0	0	0	0	0	0	1	3967	991	35	3		3	CSNK2A2	16	58200519	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	406835	58200519	32154234	60	2944											
KCNG4	93107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	84271024	84271024	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctggacaggagctgactcCaagggctgtgggaaccatag	16	9	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:84271024C>G	ENST00000308251.4	-	2	136	c.68G>C	c.(67-69)tGg>tCg	p.W23S	KCNG4_ENST00000568181.1_Missense_Mutation_p.W23S	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	23					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGCTGACTCCAAGGGCTGTG	0.632																																					p.W23S		.											.	KCNG4-93	0			c.G68C						.						47	51	49					16																	84271024		2200	4300	6500	SO:0001583	missense	93107	exon2			TGACTCCAAGGGC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.68G>C	16.37:g.84271024C>G	ENSP00000312129:p.Trp23Ser	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	86	26	NM_172347	0	0	0	0	0	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270228	0.10349	.	.	ENSG00000168418	ENST00000308251	D	0.96200	-3.94	4.42	2.19	0.27852	.	1.387460	0.04407	N	0.365346	D	0.89406	0.6706	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.78743	-0.2085	10	0.19590	T	0.45	.	6.216	0.20656	0.7425:0.1705:0.0871:0.0	.	23;23	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	S	23	ENSP00000312129:W23S	ENSP00000312129:W23S	W	-	2	0	KCNG4	82828525	0.998000	0.40836	0.001000	0.08648	0.020000	0.10135	3.380000	0.52448	0.266000	0.21894	-0.425000	0.05940	TGG	.		0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		G	84271024	C	G	84271024	3	3	12	1	0	0	0	0	1	0	0	0	8057	595	21	3	1497	3	KCNG4	16	84271024	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	26070505	84271024	6083729	61	2945											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	12	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		4693342	76501868	62	2946											
POLR2A	5430	bcgsc.ca	37	chr17	7399866	7399866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacatatgcgagggtggGgaggagatggacaacaagtt	15	4	0	1	rs2301609	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:7399866G>A	ENST00000322644.6	+	4	870	c.471G>A	c.(469-471)ggG>ggA	p.G157G	POLR2A_ENST00000572844.1_Silent_p.G157G	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCGAGGGTGGGGAGGAGATGG	0.532													G|||	859	0.171526	0.2186	0.0994	5008	,	,		19352	0.0278		0.1849	False		,,,				2504	0.2935				p.G157G		.											.	POLR2A-91	0			c.G471A						.	G		913,3493	352.8+/-311.9	90,733,1380	143	148	146		471	-0.5	1	17	dbSNP_100	146	1798,6802	323.7+/-316.1	221,1356,2723	no	coding-synonymous	POLR2A	NM_000937.4		311,2089,4103	AA,AG,GG		20.907,20.7217,20.8442		157/1971	7399866	2711,10295	2203	4300	6503	SO:0001819	synonymous_variant	5430	exon4			GGGTGGGGAGGAG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.471G>A	17.37:g.7399866G>A		Somatic	199	2		WXS	Illumina GAIIx	Phase_I	203	7	NM_000937	0	0	2	2	0	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																			G|0.810;A|0.190		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7399866	G	A	7399866	2	1	12	1	0	0	0	0	0	0	0	1	12253	1219	43	3		3	POLR2A	17	7399866	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	2706524	7399866	73795344	63	2947											
BTBD17	388419	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	72356326	72356326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaagcgctggagcacCgcctgggagtggttgatgga	16	10	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:72356326C>T	ENST00000375366.3	-	2	270	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	48					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GCTGGAGCACCGCCTGGGAGT	0.657																																					p.A48A		.											.	BTBD17-22	0			c.G144A						.						20	20	20					17																	72356326		2203	4298	6501	SO:0001819	synonymous_variant	388419	exon2			GAGCACCGCCTGG		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.144G>A	17.37:g.72356326C>T		Somatic	163	1		WXS	Illumina GAIIx	Phase_I	228	96	NM_001080466	0	0	0	0	0		Silent	SNP	ENST00000375366.3	37	CCDS32719.1																																																																																			.		0.657	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		T	72356326	C	T	72356326	2	4	12	1	0	0	0	0	0	0	0	1	1546	639	23	1		1	BTBD17	17	72356326	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	64956460	72356326	8838884	64	2948											
LLGL2	3993	broad.mit.edu	37	chr17	73565071	73565071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaggcacgaggacggCacggtgcggttctgggatgc	17	12	1	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:73565071C>A	ENST00000392550.3	+	13	1452	c.1335C>A	c.(1333-1335)ggC>ggA	p.G445G	LLGL2_ENST00000167462.5_Silent_p.G445G|LLGL2_ENST00000577200.1_Silent_p.G445G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	445					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)			ACGAGGACGGCACGGTGCGGT	0.667																																					p.G445G		.											.	LLGL2-251	0			c.C1335A						.						41	42	41					17																	73565071		2203	4300	6503	SO:0001819	synonymous_variant	3993	exon13			GGACGGCACGGTG	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.1335C>A	17.37:g.73565071C>A		Somatic	70	2		WXS	Illumina GAIIx	Phase_I	81	11	NM_004524	0	0	0	0	0	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			.		0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		A	73565071	C	A	73565071	2	1	12	1	0	0	0	0	0	0	0	1	8864	697	25	3		3	LLGL2	17	73565071	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	1208745	73565071	7630139	65	2949											
DNAH17	8632	broad.mit.edu	37	chr17	76433833	76433833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggggatgatgtgggtctCggggctgggggcaggctccg	22	8	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:76433833C>T	ENST00000585328.1	-	74	12032	c.11908G>A	c.(11908-11910)Gag>Aag	p.E3970K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E3969K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3969	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGTGGGTCTCGGGGCTGGGG	0.637																																					p.E3975K		.											.	DNAH17-142	0			c.G11923A						.						54	51	52					17																	76433833		2203	4299	6502	SO:0001583	missense	8632	exon74			GGGTCTCGGGGCT	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.11908G>A	17.37:g.76433833C>T	ENSP00000465516:p.Glu3970Lys	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	102	4	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.114307	0.37339	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24151	1.87	5.22	5.22	0.72569	.	2.153880	0.01959	N	0.043216	T	0.39911	0.1096	M	0.70108	2.13	0.40760	D	0.982993	B	0.28933	0.228	B	0.28784	0.094	T	0.43653	-0.9378	10	0.25751	T	0.34	.	18.7837	0.91946	0.0:1.0:0.0:0.0	.	3970	E7EUM8	.	K	3970;3969	ENSP00000374490:E3969K	ENSP00000300671:E3970K	E	-	1	0	DNAH17	73945428	0.996000	0.38824	0.985000	0.45067	0.447000	0.32167	3.725000	0.54970	2.432000	0.82394	0.561000	0.74099	GAG	.		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76433833	C	T	76433833	3	4	12	1	0	0	0	0	1	0	0	0	4615	893	31	1	1497	1	DNAH17	17	76433833	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	2868762	76433833	4761377	66	2950											
WDR7	23335	broad.mit.edu	37	chr18	54424373	54424373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcactgatgctgccggGttataatcagcctgcttgta	10	9	2	1	rs200902295		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr18:54424373G>C	ENST00000254442.3	+	15	2760	c.2549G>C	c.(2548-2550)gGt>gCt	p.G850A	WDR7_ENST00000357574.3_Missense_Mutation_p.G850A|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	850					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)		ATGCTGCCGGGTTATAATCAG	0.512																																					p.G850A		.											.	WDR7-93	0			c.G2549C						.						154	136	142					18																	54424373		2203	4300	6503	SO:0001583	missense	23335	exon15			TGCCGGGTTATAA	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.2549G>C	18.37:g.54424373G>C	ENSP00000254442:p.Gly850Ala	Somatic	228	2		WXS	Illumina GAIIx	Phase_I	173	4	NM_052834	0	0	0	0	0	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826720	0.32329	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68479	-0.26;-0.33	5.86	5.86	0.93980	.	0.112240	0.64402	D	0.000006	T	0.73225	0.3560	L	0.49126	1.545	0.44668	D	0.997654	D;B	0.59357	0.985;0.088	P;B	0.53722	0.733;0.034	T	0.69518	-0.5124	10	0.34782	T	0.22	.	19.797	0.96490	0.0:0.0:1.0:0.0	.	850;850	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	A	850;850;175;850	ENSP00000254442:G850A;ENSP00000350187:G850A	ENSP00000254442:G850A	G	+	2	0	WDR7	52575371	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.402000	0.66332	2.776000	0.95493	0.655000	0.94253	GGT	G|0.999;C|0.001		0.512	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			C	54424373	G	C	54424373	3	2	12	1	0	0	0	0	1	0	0	0	17369	1261	44	3	2603	3	WDR7	18	54424373	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10		54424373	23652875	67	2951											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc	14	16	0	2	rs8140	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000453954.2_Silent_p.S350S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_003200	0	0	7	7	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	12	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10		1619339	57509644	68	2952											
DOHH	83475	hgsc.bcm.edu	37	chr19	3492318	3492318	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcagggcgaacatggcGcggtatcgctcgaagagcgg	17	10	0	1	rs78287632	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:3492318G>C	ENST00000427575.1	-	4	982	c.531C>G	c.(529-531)cgC>cgG	p.R177R	DOHH_ENST00000250937.3_Silent_p.R177R	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAACATGGCGCGGTATCGCT	0.741													G|||	93	0.0185703	0.0227	0.013	5008	,	,		12700	0		0.0298	False		,,,				2504	0.0245				p.R177R		.											.	DOHH-90	0			c.C531G						.	G	,	68,4070		0,68,2001	5	7	6		531,531	-7.8	0.8	19	dbSNP_132	6	159,7969		1,157,3906	no	coding-synonymous,coding-synonymous	DOHH	NM_001145165.1,NM_031304.4	,	1,225,5907	CC,CG,GG		1.9562,1.6433,1.8506	,	177/303,177/303	3492318	227,12039	2069	4064	6133	SO:0001819	synonymous_variant	83475	exon4			CATGGCGCGGTAT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.531C>G	19.37:g.3492318G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	26	11	NM_001145165	0	0	6	12	6		Silent	SNP	ENST00000427575.1	37	CCDS12108.1																																																																																			G|0.979;C|0.021		0.741	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		C	3492318	G	C	3492318	2	2	12	1	0	0	0	0	0	0	0	1	4709	1074	38	2		2	DOHH	19	3492318	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	1872979	3492318	55636665	69	2953											
FUT3	2525	broad.mit.edu;bcgsc.ca	37	chr19	5844265	5844265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttccagttggacaccgCccaggccaccagctcggtct	11	17	1	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:5844265C>T	ENST00000303225.6	-	3	1220	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	FUT3_ENST00000458379.2_Missense_Mutation_p.A196T|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.A196T|FUT3_ENST00000589620.1_Missense_Mutation_p.A196T	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	196					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGGACACCGCCCAGGCCACC	0.667																																					p.A196T	Esophageal Squamous(82;745 1728 24593 44831)	.											.	FUT3-90	0			c.G586A						.						39	41	40					19																	5844265		2203	4300	6503	SO:0001583	missense	2525	exon3			ACACCGCCCAGGC		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.586G>A	19.37:g.5844265C>T	ENSP00000305603:p.Ala196Thr	Somatic	204	1		WXS	Illumina GAIIx	Phase_I	217	66	NM_001097640	0	0	0	0	0	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750265	0.15778	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23348	1.91;1.91	2.2	2.2	0.27929	.	0.677919	0.13004	N	0.421399	T	0.19248	0.0462	L	0.31752	0.955	0.24531	N	0.994113	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14578	0.011;0.005;0.005;0.005	T	0.20009	-1.0288	10	0.54805	T	0.06	.	10.498	0.44789	0.0:1.0:0.0:0.0	.	196;196;196;196	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	T	196	ENSP00000305603:A196T;ENSP00000416443:A196T	ENSP00000305603:A196T	A	-	1	0	FUT3	5795265	0.966000	0.33281	0.978000	0.43139	0.069000	0.16628	1.959000	0.40412	1.163000	0.42636	0.194000	0.17425	GCG	.		0.667	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		T	5844265	C	T	5844265	3	4	12	1	0	0	0	0	1	0	0	0	6129	739	26	3	503	3	FUT3	19	5844265	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	2351947	5844265	53284718	70	2954											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_012088	0	0	9	13	4		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	12	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	11778349	17622614	41506369	71	2955											
HAPLN4	404037	hgsc.bcm.edu	37	chr19	19373528	19373553	+	Start_Codon_Del	DEL	GCCCCACTTACCATCTTGCCCGCGCG	GCCCCACTTACCATCTTGCCCGCGCG	-													acacaccacccgcgcccgcaGccccacttaccatcttgccc					rs140808775	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	GCCCCACTTACCATCTTGCCCGCGCG	GCCCCACTTACCATCTTGCCCGCGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:19373528_19373553delGCCCCACTTACCATCTTGCCCGCGCG	ENST00000291481.7	-	0	52_67				AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4						cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGCGCCCGCAGCCCCACTTACCATCTTgcccgcgcggcccccgccg	0.642																																							.											.	HAPLN4-91	0									.																																			SO:0001582	initiator_codon_variant	404037	wholegene			CCCGCAGCCCCAC	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8			19.37:g.19373528_19373553delGCCCCACTTACCATCTTGCCCGCGCG		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	70	19	NM_023002	0	0	0	0	0	A5PKW5|Q96PW2	Frame_Shift_Del	DEL	ENST00000291481.7	37	CCDS12398.1																																																																																			.		0.642	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		-	19373553	GCCCCACTTACCATCTTGCCCGCGCG	-	19373528	7	5	12	1	0	1	0	1	0	0	0	0	6984	986	34	0		0	HAPLN4	19	19373528	Start_Codon_Del	DEL	GCCCCACTTACCATCTTGCCCGCGCG	TCGA-OR-A5JD-01A-11D-A29I-10	1750914	19373528	39755455	72	2956											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	FBXO17_ENST00000595329.1_Silent_p.P14P|SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_148169	0	0	0	2	2	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	12	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	20067390	39440918	19688065	73	2957											
ZNF229	7772	broad.mit.edu;bcgsc.ca	37	chr19	44933163	44933163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacgtcacacacgtagggcCtctctcccgtgtggaccctc	9	17	2	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:44933163C>G	ENST00000588931.1	-	6	2226	c.1793G>C	c.(1792-1794)aGg>aCg	p.R598T	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R592T|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CACGTAGGGCCTCTCTCCCGT	0.542																																					p.R598T		.											.	ZNF229-94	0			c.G1793C						.						61	67	65					19																	44933163		2187	4294	6481	SO:0001583	missense	7772	exon6			TAGGGCCTCTCTC	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1793G>C	19.37:g.44933163C>G	ENSP00000466519:p.Arg598Thr	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	155	7	NM_014518	0	0	10	10	0	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786001	0.49997	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.52	0.11935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35248	0.0925	L	0.35249	1.045	0.23653	N	0.997192	P	0.47841	0.901	P	0.52823	0.71	T	0.24621	-1.0155	8	0.66056	D	0.02	.	6.9632	0.24610	0.0:0.4373:0.0:0.5627	.	598	Q9UJW7	ZN229_HUMAN	T	598	.	ENSP00000291187:R598T	R	-	2	0	ZNF229	49625003	0.001000	0.12720	0.012000	0.15200	0.575000	0.36095	-0.399000	0.07250	0.121000	0.18284	0.609000	0.83330	AGG	.		0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		G	44933163	C	G	44933163	3	3	12	1	0	0	0	0	1	0	0	0	17830	681	24	3	688	3	ZNF229	19	44933163	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	5492245	44933163	14195820	74	2958											
LMTK3	114783	broad.mit.edu	37	chr19	49004261	49004261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagccctcaccagtagtcCgcgtaaggcagcttgagcct	11	14	1	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:49004261C>T	ENST00000600059.1	-	10	1370	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	LMTK3_ENST00000270238.3_Silent_p.A410A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ACCAGTAGTCCGCGTAAGGCA	0.682																																					p.A410A		.											.	LMTK3-1357	0			c.G1230A						.						12	16	15					19																	49004261		1967	4121	6088	SO:0001819	synonymous_variant	114783	exon11			GTAGTCCGCGTAA	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1143G>A	19.37:g.49004261C>T		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	199	4	NM_001080434	0	0	0	0	0	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.682	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		T	49004261	C	T	49004261	2	4	12	1	0	0	0	0	0	0	0	1	8890	639	23	1		1	LMTK3	19	49004261	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	4071098	49004261	10124722	75	2959											
NR1H2	7376	hgsc.bcm.edu	37	chr19	50881825	50881825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	11	8	2	3	rs55817866	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																					p.Q173Q		.											.	NR1H2-186	0			c.G519A						.						38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376	exon6			GAAACAGCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	101	6	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																			G|0.903;A|0.097		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	12	1	0	0	0	0	0	0	0	1	10656	962	34	3		3	NR1H2	19	50881825	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	1877564	50881825	8247158	76	2960											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348735	43348735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcaggacccggtggCcggggggccctgtgcctctg	19	15	1	0	rs2296530	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_003881	0	0	54	101	47	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	12	1	0	0	0	0	0	0	0	1	17422	726	26	3		3	WISP2	20	43348735	Silent	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		43348735	19676785	77	2961											
ATF4	468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	39918189	39918189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcataaaggaggaagacaCcccttcagataatgatagtg	11	7	1	3	rs539627686		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr22:39918189C>T	ENST00000337304.2	+	2	1520	c.638C>T	c.(637-639)aCc>aTc	p.T213I	ATF4_ENST00000404241.2_Missense_Mutation_p.T213I|ATF4_ENST00000396680.1_Missense_Mutation_p.T213I	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	213					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)	GAGGAAGACACCCCTTCAGAT	0.517																																					p.T213I		.											.	ATF4-90	0			c.C638T						.						36	32	34					22																	39918189		2203	4298	6501	SO:0001583	missense	468	exon2			AAGACACCCCTTC	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.638C>T	22.37:g.39918189C>T	ENSP00000336790:p.Thr213Ile	Somatic	419	1		WXS	Illumina GAIIx	Phase_I	308	216	NM_001675	0	0	27	312	285	Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435534	0.25813	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.23754	1.89;1.89;1.89	5.24	1.87	0.25490	.	1.067660	0.07217	N	0.860157	T	0.21718	0.0523	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.33111	-0.9881	10	0.87932	D	0	-0.5129	8.8407	0.35140	0.2793:0.4477:0.273:0.0	.	213	P18848	ATF4_HUMAN	I	213	ENSP00000384587:T213I;ENSP00000336790:T213I;ENSP00000379912:T213I	ENSP00000336790:T213I	T	+	2	0	ATF4	38248135	0.000000	0.05858	0.192000	0.23308	0.942000	0.58702	-0.037000	0.12164	0.177000	0.19895	0.462000	0.41574	ACC	.		0.517	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		T	39918189	C	T	39918189	3	4	12	1	0	0	0	0	1	0	0	0	1083	507	18	3	644	3	ATF4	22	39918189	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10		39918189	11386377	78	2962											
MXRA5	25878	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	3229333	3229333	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagagtgtcccattgttgAagacgacatagcgcttggtg	13	7	0	3			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:3229333A>T	ENST00000217939.6	-	7	7065	c.6911T>A	c.(6910-6912)tTc>tAc	p.F2304Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2304	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCATTGTTGAAGACGACATA	0.547																																					p.F2304Y		.											.	MXRA5-136	0			c.T6911A						.						162	125	138					X																	3229333		2203	4300	6503	SO:0001583	missense	25878	exon7			TTGTTGAAGACGA	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6911T>A	X.37:g.3229333A>T	ENSP00000217939:p.Phe2304Tyr	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	152	52	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911401	0.52439	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	4.16	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39759	U	0.001273	T	0.72890	0.3517	L	0.41356	1.27	0.44162	D	0.996964	D	0.89917	1.0	D	0.85130	0.997	T	0.70350	-0.4896	10	0.31617	T	0.26	.	12.7526	0.57316	1.0:0.0:0.0:0.0	.	2304	Q9NR99	MXRA5_HUMAN	Y	2304	ENSP00000217939:F2304Y	ENSP00000217939:F2304Y	F	-	2	0	MXRA5	3239333	1.000000	0.71417	0.528000	0.27938	0.443000	0.32047	7.930000	0.87610	1.373000	0.46208	0.414000	0.27820	TTC	.		0.547	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3229333	A	T	3229333	3	4	12	1	0	0	0	0	1	0	0	0	10041	246	9	5	1579	5	MXRA5	23	3229333	Missense_Mutation	SNP	A	TCGA-OR-A5JD-01A-11D-A29I-10		3229333	152041227	79	2963											
ASB12	142689	broad.mit.edu	37	chrX	63444868	63444868	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagggtgcggggtctTgggacacgagccaataggcc	17	9	2	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:63444868T>G	ENST00000396130.2	-	1	635	c.636A>C	c.(634-636)ccA>ccC	p.P212P	ASB12_ENST00000362002.2_Silent_p.P221P|MTMR8_ENST00000453546.1_Silent_p.P596P			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	212					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGCGGGGTCTTGGGACACGAG	0.532																																					p.P221P		.											.	ASB12-228	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.A663C						.						51	46	48					X																	63444868		2203	4300	6503	SO:0001819	synonymous_variant	142689	exon2			GGGTCTTGGGACA	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.636A>C	X.37:g.63444868T>G		Somatic	177	6		WXS	Illumina GAIIx	Phase_I	245	16	NM_130388	0	0	4	4	0	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37																																																																																				.		0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				G	63444868	T	G	63444868	2	3	12	1	0	0	0	0	0	0	0	1	1017	1799	63	5		5	ASB12	23	63444868	Silent	SNP	T	TCGA-OR-A5JD-01A-11D-A29I-10	60215535	63444868	91825692	80	2964											
ARMCX1	51309	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100808269	100808269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacgctgaaggaacaggCaagtgcaaaggcaggcaaag	13	9	0	1			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:100808269C>T	ENST00000372829.3	+	4	727	c.356C>T	c.(355-357)gCa>gTa	p.A119V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	119						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AAGGAACAGGCAAGTGCAAAG	0.597																																					p.A119V		.											.	ARMCX1-134	0			c.C356T						.						80	73	75					X																	100808269		2203	4300	6503	SO:0001583	missense	51309	exon4			AACAGGCAAGTGC	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.356C>T	X.37:g.100808269C>T	ENSP00000361917:p.Ala119Val	Somatic	113	1		WXS	Illumina GAIIx	Phase_I	140	44	NM_016608	0	0	36	36	0	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	c	18.07	3.541907	0.65198	.	.	ENSG00000126947	ENST00000372829	T	0.37584	1.19	3.62	3.62	0.41486	.	.	.	.	.	T	0.38612	0.1047	N	0.24115	0.695	0.30816	N	0.738285	D	0.63880	0.993	D	0.70227	0.968	T	0.09164	-1.0687	9	0.11794	T	0.64	-4.4793	9.7523	0.40483	0.0:1.0:0.0:0.0	.	119	Q9P291	ARMX1_HUMAN	V	119	ENSP00000361917:A119V	ENSP00000361917:A119V	A	+	2	0	ARMCX1	100694925	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	2.994000	0.49433	2.049000	0.60858	0.499000	0.49734	GCA	.		0.597	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		T	100808269	C	T	100808269	3	4	12	1	0	0	0	0	1	0	0	0	960	710	25	3	358	3	ARMCX1	23	100808269	Missense_Mutation	SNP	C	TCGA-OR-A5JD-01A-11D-A29I-10	37363401	100808269	54462291	81	2965											
ATP11C	286410	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	138901556	138901556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttctaaactgttcaaacaGattctttgggagaaaattcc	6	8	4	2			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:138901556G>C	ENST00000327569.3	-	3	285	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	ATP11C_ENST00000359686.2_Missense_Mutation_p.L63V|ATP11C_ENST00000361648.2_Missense_Mutation_p.L63V|ATP11C_ENST00000370557.1_Missense_Mutation_p.L60V|ATP11C_ENST00000370543.1_Missense_Mutation_p.L63V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	63					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)					TGTTCAAACAGATTCTTTGGG	0.308																																					p.L63V		.											.	ATP11C-198	0			c.C187G						.						30	34	32					X																	138901556		2198	4278	6476	SO:0001583	missense	286410	exon3			CAAACAGATTCTT	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.187C>G	X.37:g.138901556G>C	ENSP00000332756:p.Leu63Val	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	93	25	NM_001010986	0	0	4	4	0	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164849	0.57476	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.34	2.61	0.31194	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.91195	0.7226	H	0.94222	3.51	0.40804	D	0.983364	D;D	0.60160	0.987;0.978	P;P	0.62382	0.901;0.799	D	0.89980	0.4100	10	0.87932	D	0	.	7.9575	0.30051	0.2739:0.0:0.7261:0.0	.	63;63	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	V	60;63;63;63;63	ENSP00000359588:L60V;ENSP00000355165:L63V;ENSP00000332756:L63V;ENSP00000359574:L63V;ENSP00000352715:L63V	ENSP00000332756:L63V	L	-	1	2	ATP11C	138729222	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.231000	0.43009	0.240000	0.21263	-0.192000	0.12808	CTG	.		0.308	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138901556	G	C	138901556	3	2	12	1	0	0	0	0	1	0	0	0	1122	933	33	3	3386	3	ATP11C	23	138901556	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	38093287	138901556	16369004	82	2966											
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	153035385	153035385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccacccccgccaggaGcagggccaggtaagccgccc	13	19	0	0			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:153035385G>C	ENST00000361971.5	+	7	1734	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	PLXNB3_ENST00000538543.1_Missense_Mutation_p.E90D|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E193D|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E563D|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E150D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	540					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)					CCCGCCAGGAGCAGGGCCAGG	0.687																																					p.E563D		.											.	PLXNB3-130	0			c.G1689C						.						18	20	19					X																	153035385		2192	4292	6484	SO:0001583	missense	5365	exon8			CCAGGAGCAGGGC	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.1620G>C	X.37:g.153035385G>C	ENSP00000355378:p.Glu540Asp	Somatic	203	2		WXS	Illumina GAIIx	Phase_I	181	68	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590091	0.66105	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.68903	5.16;5.12;4.57;1.87;-0.36	4.71	3.83	0.44106	.	0.185756	0.45606	D	0.000343	T	0.76630	0.4014	M	0.83118	2.625	0.31358	N	0.681724	P;D;D;D;P	0.71674	0.945;0.998;0.963;0.991;0.945	P;P;P;P;P	0.61477	0.777;0.831;0.721;0.889;0.83	T	0.75156	-0.3417	10	0.18276	T	0.48	.	9.1703	0.37076	0.1123:0.0:0.8877:0.0	.	193;222;90;563;540	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	D	563;540;193;90;150	ENSP00000442736:E563D;ENSP00000355378:E540D;ENSP00000445569:E193D;ENSP00000444086:E90D;ENSP00000441919:E150D	ENSP00000355378:E540D	E	+	3	2	PLXNB3	152688579	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	1.356000	0.34079	0.756000	0.33013	0.600000	0.82982	GAG	.		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			C	153035385	G	C	153035385	3	2	12	1	0	0	0	0	1	0	0	0	12164	962	34	3	1760	3	PLXNB3	23	153035385	Missense_Mutation	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	14133829	153035385	2235175	83	2967											
HCFC1	3054	bcgsc.ca	37	chrX	153215839	153215839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaggggctgggcccGcagtacacccgcatgaaggc	17	12	0	1	rs3027875		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:153215839G>A	ENST00000310441.7	-	24	6825	c.5859C>T	c.(5857-5859)tgC>tgT	p.C1953C	HCFC1_ENST00000354233.3_Silent_p.C1884C|HCFC1_ENST00000369984.4_Silent_p.C1998C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1953	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGGCCCGCAGTACACCC	0.652													G|||	722	0.191258	0.0197	0.1816	3775	,	,		11049	0.002		0.4821	False		,,,				2504	0.0849				p.C1953C		.											.	HCFC1-132	0			c.C5859T						.	G		298,3211		22,216,38,1232,531	41	47	45		5859	-5.3	0.9	X	dbSNP_102	45	4106,2410		924,1122,1136,313,662	no	coding-synonymous	HCFC1	NM_005334.2		946,1338,1174,1545,1193	AA,AG,A,GG,G		36.9859,8.4924,43.9302		1953/2036	153215839	4404,5621	2039	4157	6196	SO:0001819	synonymous_variant	3054	exon24			GGGCCCGCAGTAC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5859C>T	X.37:g.153215839G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	152	7	NM_005334	0	0	21	21	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1	475	0.2863170584689572	17	0.035269709543568464	46	0.15333333333333332	2	0.0034965034965034965	261	0.4943181818181818	G	10.91	1.485602	0.26686	0.084924	0.630141	ENSG00000172534	ENST00000444191	.	.	.	5.42	-5.26	0.02772	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11108	-1.0601	3	.	.	.	.	15.8112	0.78565	0.7732:0.0:0.2268:0.0	rs3027875	.	.	.	W	529	.	.	R	-	1	2	HCFC1	152869033	0.009000	0.17119	0.935000	0.37517	0.942000	0.58702	-0.600000	0.05693	-1.195000	0.02680	-0.411000	0.06167	CGG	G|0.712;A|0.288		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153215839	G	A	153215839	2	1	12	1	0	0	0	0	0	0	0	1	7018	1079	38	1		1	HCFC1	23	153215839	Silent	SNP	G	TCGA-OR-A5JD-01A-11D-A29I-10	180454	153215839	2054721	84	2968											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	13	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		29138975	220111646	1	2969											
RPAP2	79871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	92789534	92789534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtctaggtcagtgtctAgttcagtgcaggtgtgtcct	13	7	4	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:92789534A>T	ENST00000610020.1	+	8	1166	c.1057A>T	c.(1057-1059)Agt>Tgt	p.S353C	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	353					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)		GTCAGTGTCTAGTTCAGTGCA	0.373																																					p.S353C		.											.	RPAP2-91	0			c.A1057T						.						96	101	99					1																	92789534		2203	4300	6503	SO:0001583	missense	79871	exon8			GTGTCTAGTTCAG	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.1057A>T	1.37:g.92789534A>T	ENSP00000476948:p.Ser353Cys	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	95	73	NM_024813	0	0	0	1	1	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	6.585	0.476209	0.12521	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.05	-1.27	0.09347	.	0.748686	0.13603	N	0.375738	T	0.16471	0.0396	L	0.47716	1.5	0.22762	N	0.998767	P	0.39131	0.661	B	0.39419	0.299	T	0.05716	-1.0868	8	0.56958	D	0.05	-1.1198	6.4109	0.21690	0.4053:0.1529:0.4418:0.0	.	353	Q8IXW5	RPAP2_HUMAN	C	353	.	ENSP00000359368:S353C	S	+	1	0	RPAP2	92562122	0.002000	0.14202	0.067000	0.19924	0.094000	0.18550	0.301000	0.19174	-0.402000	0.07633	-0.274000	0.10170	AGT	.		0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		T	92789534	A	T	92789534	3	4	13	1	0	0	0	0	1	0	0	0	13587	420	15	5	1087	5	RPAP2	1	92789534	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	63650559	92789534	156461087	2	2970											
AGL	178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100376292	100376292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatataactgcaggagttgAtgaagaaacaggatttgttt	10	3	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:100376292A>C	ENST00000294724.4	+	28	4203	c.3725A>C	c.(3724-3726)gAt>gCt	p.D1242A	AGL_ENST00000370161.2_Missense_Mutation_p.D1226A|AGL_ENST00000361522.4_Missense_Mutation_p.D1225A|AGL_ENST00000370165.3_Missense_Mutation_p.D1242A|AGL_ENST00000361915.3_Missense_Mutation_p.D1242A|AGL_ENST00000370163.3_Missense_Mutation_p.D1242A|AGL_ENST00000361302.3_Missense_Mutation_p.D1226A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1242					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)		GCAGGAGTTGATGAAGAAACA	0.279																																					p.D1242A		.											.	AGL-92	0			c.A3725C						.						77	75	76					1																	100376292		2203	4300	6503	SO:0001583	missense	178	exon28			GAGTTGATGAAGA	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.3725A>C	1.37:g.100376292A>C	ENSP00000294724:p.Asp1242Ala	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	108	73	NM_000644	0	0	1	3	2	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411104	0.62399	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.46	4.33	0.51752	Six-hairpin glycosidase-like (1);	0.183879	0.56097	D	0.000022	T	0.74366	0.3707	M	0.86740	2.835	0.52099	D	0.999947	B;B;B	0.23591	0.088;0.088;0.053	B;B;B	0.39503	0.301;0.301;0.278	T	0.76572	-0.2910	10	0.72032	D	0.01	.	11.5652	0.50800	0.9296:0.0:0.0704:0.0	.	1225;1226;1242	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	A	1242;1242;1242;1242;1226;1226;1225	ENSP00000355106:D1242A;ENSP00000359184:D1242A;ENSP00000359182:D1242A;ENSP00000294724:D1242A;ENSP00000354971:D1226A;ENSP00000359180:D1226A;ENSP00000354635:D1225A	ENSP00000294724:D1242A	D	+	2	0	AGL	100148880	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	7.075000	0.76798	1.006000	0.39211	0.533000	0.62120	GAT	.		0.279	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		C	100376292	A	C	100376292	3	2	13	1	0	0	0	0	1	0	0	0	384	333	12	5	3900	5	AGL	1	100376292	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	7586758	100376292	148874329	3	2971											
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	108291635	108291635	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttcttctttaaatcttttGttttgcaataaaattctaac	2	6	4	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:108291635G>C	ENST00000370056.4	-	15	1731	c.1457C>G	c.(1456-1458)aCa>aGa	p.T486R	VAV3_ENST00000527011.1_Missense_Mutation_p.T486R|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.T421R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	486	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TAAATCTTTTGTTTTGCAATA	0.284																																					p.T486R		.											.	VAV3-1339	0			c.C1457G						.						60	62	61					1																	108291635		2203	4299	6502	SO:0001583	missense	10451	exon15			TCTTTTGTTTTGC	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.1457C>G	1.37:g.108291635G>C	ENSP00000359073:p.Thr486Arg	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	28	4	NM_006113	0	0	0	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556480|4.556480	0.86231|0.86231	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809;ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|D;D;D	.|0.90324	.|-2.65;-2.65;-2.65	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95169|0.95169	0.8434|0.8434	M|M	0.78049|0.78049	2.395|2.395	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	.|0.996;1.0;0.998;0.998	D|D	0.95146|0.95146	0.8268|0.8268	5|10	.|0.87932	.|D	.|0	.|.	19.7215|19.7215	0.96144|0.96144	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|486;486;421;486	.|B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.|.;.;.;VAV3_HUMAN	E|R	38;481|486;486;421	.|ENSP00000359073:T486R;ENSP00000432540:T486R;ENSP00000360912:T421R	.|ENSP00000359073:T486R	Q|T	-|-	1|2	0|0	VAV3|VAV3	108093158|108093158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.450000|9.450000	0.97607|0.97607	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	CAA|ACA	.		0.284	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		C	108291635	G	C	108291635	3	2	13	1	0	0	0	0	1	0	0	0	17182	1377	48	3	1163	3	VAV3	1	108291635	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	7915343	108291635	140958986	4	2972											
RBM15	64783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110884071	110884071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagaattgagcagtagccggGatcgttacaacagcgacaat	11	9	0	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:110884071G>C	ENST00000369784.3	+	1	2944	c.2044G>C	c.(2044-2046)Gat>Cat	p.D682H	RBM15_ENST00000602849.1_Missense_Mutation_p.D682H|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.D682H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	682	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGTAGCCGGGATCGTTACAA	0.542			T	MKL1	acute megakaryocytic leukemia																																p.D682H		.		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	RBM15-661	0			c.G2044C						.						69	64	66					1																	110884071		2203	4300	6503	SO:0001583	missense	64783	exon1			AGCCGGGATCGTT	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2044G>C	1.37:g.110884071G>C	ENSP00000358799:p.Asp682His	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	117	86	NM_022768	0	0	0	1	1	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231056	0.39399	.	.	ENSG00000162775	ENST00000369784	T	0.18810	2.19	5.02	5.02	0.67125	.	0.000000	0.45867	D	0.000329	T	0.13927	0.0337	L	0.46157	1.445	0.40992	D	0.984869	P;P	0.47677	0.899;0.838	P;B	0.44990	0.466;0.276	T	0.01118	-1.1446	10	0.49607	T	0.09	-11.711	11.9247	0.52812	0.0795:0.0:0.9205:0.0	.	682;682	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	682	ENSP00000358799:D682H	ENSP00000358799:D682H	D	+	1	0	RBM15	110685594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.093000	0.71422	2.608000	0.88229	0.655000	0.94253	GAT	.		0.542	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		C	110884071	G	C	110884071	3	2	13	1	0	0	0	0	1	0	0	0	13161	1174	41	3	2046	3	RBM15	1	110884071	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	2592436	110884071	138366550	5	2973											
DDX20	11218	hgsc.bcm.edu	37	chr1	112298829	112298829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcaaggccatcccgTtggggcgctgcgggctcggt	16	13	1	0	rs197393	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:112298829T>C	ENST00000369702.4	+	1	903	c.283T>C	c.(283-285)Ttg>Ctg	p.L95L	FAM212B_ENST00000444059.2_5'Flank|DDX20_ENST00000536167.1_Silent_p.L95L|FAM212B_ENST00000412270.1_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	95	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCATCCCGTTGGGGCGCTG	0.771													C|||	2365	0.472244	0.7254	0.5014	5008	,	,		8724	0.3403		0.4105	False		,,,				2504	0.3088				p.L95L		.											.	DDX20-227	0			c.T283C						.	C		1324,1278		354,616,331	2	2	2		283	2.9	1	1	dbSNP_79	2	1538,3832		298,942,1445	no	coding-synonymous	DDX20	NM_007204.4		652,1558,1776	CC,CT,TT		28.6406,49.1161,35.9007		95/825	112298829	2862,5110	1301	2685	3986	SO:0001819	synonymous_variant	11218	exon1			ATCCCGTTGGGGC	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.283T>C	1.37:g.112298829T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_007204	0	0	0	0	0	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																			T|0.526;C|0.474		0.771	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		C	112298829	T	C	112298829	2	2	13	1	0	0	0	0	0	0	0	1	4357	1722	60	4		4	DDX20	1	112298829	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	1414758	112298829	136951792	6	2974											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	18	16	NM_018364	0	0	0	1	1	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	13	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	2055825	114354654	134895967	7	2975											
HRNR	388697	broad.mit.edu	37	chr1	152187065	152187065	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaggactgccatgagCtagactcgtggtgaccaaat	11	10	0	4			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:152187065C>G	ENST00000368801.2	-	3	7115	c.7040G>C	c.(7039-7041)aGc>aCc	p.S2347T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2347					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)			CTGCCATGAGCTAGACTCGTG	0.567																																					p.S2347T		.											.	HRNR-93	0			c.G7040C						.						460	722	633					1																	152187065		2184	4298	6482	SO:0001583	missense	388697	exon3			CATGAGCTAGACT	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.7040G>C	1.37:g.152187065C>G	ENSP00000357791:p.Ser2347Thr	Somatic	1687	1		WXS	Illumina GAIIx	Phase_I	1959	35	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	4.660	0.122642	0.08931	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	3.04	-0.555	0.11807	.	.	.	.	.	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.48080	-0.9066	9	0.12430	T	0.62	.	2.4038	0.04407	0.1827:0.3457:0.3583:0.1133	.	2347	Q86YZ3	HORN_HUMAN	T	2347	ENSP00000357791:S2347T	ENSP00000357791:S2347T	S	-	2	0	HRNR	150453689	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.092000	0.15066	-0.212000	0.10109	0.644000	0.83932	AGC	.		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152187065	C	G	152187065	3	3	13	1	0	0	0	0	1	0	0	0	7386	797	28	3	1516	3	HRNR	1	152187065	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	37832411	152187065	97063556	8	2976											
LCE1F	353137	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	152749023	152749023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctccagctctgggggctGctgcagctctgggggtggtg	19	10	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:152749023G>C	ENST00000334371.2	+	1	176	c.176G>C	c.(175-177)tGc>tCc	p.C59S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	59					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGGCTGCTGCAGCTCT	0.677																																					p.C59S		.											.	LCE1F-68	0			c.G176C						.						32	36	35					1																	152749023		2202	4300	6502	SO:0001583	missense	353137	exon1			GGGGCTGCTGCAG		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.176G>C	1.37:g.152749023G>C	ENSP00000334187:p.Cys59Ser	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	49	21	NM_178354	0	0	0	0	0		Missense_Mutation	SNP	ENST00000334371.2	37	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910299	0.17833	.	.	ENSG00000240386	ENST00000334371	T	0.05786	3.39	3.89	2.94	0.34122	.	.	.	.	.	T	0.05640	0.0148	M	0.86864	2.845	0.26225	N	0.97909	P	0.44816	0.844	B	0.41088	0.347	T	0.14172	-1.0482	9	0.87932	D	0	.	8.7311	0.34501	0.0:0.0:0.7738:0.2262	.	59	Q5T754	LCE1F_HUMAN	S	59	ENSP00000334187:C59S	ENSP00000334187:C59S	C	+	2	0	LCE1F	151015647	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	3.936000	0.56568	0.923000	0.37045	0.508000	0.49915	TGC	.		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		C	152749023	G	C	152749023	3	2	13	1	0	0	0	0	1	0	0	0	8692	1319	46	3	178	3	LCE1F	1	152749023	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	561958	152749023	96501598	9	2977											
LCE1E	353135	bcgsc.ca	37	chr1	152760075	152760075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgcagccagccctcAgggggctccagctgctgtgg	15	14	1	0	rs201660535	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:152760075A>G	ENST00000368770.3	+	2	353	c.300A>G	c.(298-300)tcA>tcG	p.S100S	LCE1E_ENST00000368771.1_Silent_p.S100S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	100	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCTCAGGGGGCTCCA	0.642													G|||	1333	0.266174	0.3654	0.2406	5008	,	,		14498	0.3313		0.1064	False		,,,				2504	0.2474				p.S100S		.											.	LCE1E-90	0			c.A300G						.	G		355,3853		89,177,1838	36	52	47		300	-4.6	0.5	1	dbSNP_132	47	177,8331		25,127,4102	no	coding-synonymous	LCE1E	NM_178353.1		114,304,5940	GG,GA,AA		2.0804,8.4363,4.1837		100/119	152760075	532,12184	2104	4254	6358	SO:0001819	synonymous_variant	353135	exon2			GCCCTCAGGGGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.300A>G	1.37:g.152760075A>G		Somatic	156	13		WXS	Illumina GAIIx	Phase_I	52	29	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			A|0.995;G|0.005		0.642	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		G	152760075	A	G	152760075	2	3	13	1	0	0	0	0	0	0	0	1	8691	175	7	4		4	LCE1E	1	152760075	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	11052	152760075	96490546	10	2978											
OBSCN	84033	broad.mit.edu	37	chr1	228473929	228473929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccaacgagctcaatgAgatcgatgcccagcccgggg	13	13	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr1:228473929A>G	ENST00000422127.1	+	34	9199	c.9155A>G	c.(9154-9156)gAg>gGg	p.E3052G	OBSCN_ENST00000570156.2_Missense_Mutation_p.E3481G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3052G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E171G|OBSCN_ENST00000366707.4_Missense_Mutation_p.E171G|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1899G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3052	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTCAATGAGATCGATGCC	0.657																																					p.E3481G		.											.	OBSCN-403	0			c.A10442G						.						38	47	44					1																	228473929		2105	4226	6331	SO:0001583	missense	84033	exon39			TCAATGAGATCGA	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.9155A>G	1.37:g.228473929A>G	ENSP00000409493:p.Glu3052Gly	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	226	4	NM_001271223	0	0	1	1	0	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	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411179	0.83340	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.385839	0.25771	N	0.028414	T	0.71592	0.3358	L	0.59967	1.855	0.43678	D	0.996112	B;P	0.38729	0.317;0.644	B;P	0.48571	0.279;0.582	T	0.68051	-0.5511	10	0.25751	T	0.34	.	15.0902	0.72188	1.0:0.0:0.0:0.0	.	3052;3052	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	3052;3052;171;171;1899	ENSP00000284548:E3052G;ENSP00000409493:E3052G;ENSP00000355668:E171G;ENSP00000355670:E171G;ENSP00000352613:E1899G	ENSP00000284548:E3052G	E	+	2	0	OBSCN	226540552	1.000000	0.71417	0.997000	0.53966	0.275000	0.26752	8.793000	0.91862	2.155000	0.67459	0.459000	0.35465	GAG	.		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228473929	A	G	228473929	3	3	13	1	0	0	0	0	1	0	0	0	10851	304	11	4	9285	4	OBSCN	1	228473929	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	75713854	228473929	20776692	11	2979											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	13	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		1481231	241718142	12	2980											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	13	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	5524138	7005369	236194004	13	2981											
DHX57	90957	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	39050210	39050210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaagatagacccaaacaaCattagtttgccaattctcac	6	11	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:39050210C>A	ENST00000295373.6	-	17	3342	c.3216G>T	c.(3214-3216)atG>atT	p.M1072I		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1072							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACCCAAACAACATTAGTTTGC	0.438																																					p.M1072I	Melanoma(191;1090 2095 4375 23729 47341)	.											.	DHX57-228	0			c.G3216T						.						123	105	111					2																	39050210		2203	4300	6503	SO:0001583	missense	90957	exon17			AAACAACATTAGT	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3216G>T	2.37:g.39050210C>A	ENSP00000295373:p.Met1072Ile	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	136	40	NM_198963	0	0	2	10	8	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.918|6.918	0.539043|0.539043	0.13250|0.13250	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.25749|.	1.78|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Helicase-associated domain (2);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.33556|0.33556	0.0867|0.0867	N|N	0.03948|0.03948	-0.315|-0.315	0.80722|0.80722	D|D	1|1	B;B|.	0.20368|.	0.044;0.001|.	B;B|.	0.24006|.	0.05;0.004|.	T|T	0.28744|0.28744	-1.0034|-1.0034	10|5	0.22109|.	T|.	0.4|.	.|.	13.6824|13.6824	0.62493|0.62493	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	1072;464|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	I|F	1072|396	ENSP00000295373:M1072I|.	ENSP00000295373:M1072I|.	M|V	-|-	3|1	0|0	DHX57|DHX57	38903714|38903714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.430000|0.430000	0.31655|0.31655	5.982000|5.982000	0.70532|0.70532	2.592000|2.592000	0.87571|0.87571	0.650000|0.650000	0.86243|0.86243	ATG|GTT	.		0.438	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		A	39050210	C	A	39050210	3	1	13	1	0	0	0	0	1	0	0	0	4527	478	17	3	976	3	DHX57	2	39050210	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	32044841	39050210	204149163	14	2982											
ANKRD39	51239	hgsc.bcm.edu	37	chr2	97523720	97523720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcagggccgaggcgtcGccatcccggccccggcgtca	15	19	1	0	rs200576046	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:97523720G>A	ENST00000393537.4	-	1	112	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	2										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						CCGAGGCGTCGCCATCCCGGC	0.751													G|||	4	0.000798722	0	0.0014	5008	,	,		12037	0		0.002	False		,,,				2504	0.001				p.A2V		.											.	ANKRD39-44	0			c.C5T						.	G	VAL/ALA	2,4228		0,2,2113	7	7	7		5	4.8	1	2		7	21,8209		0,21,4094	no	missense	ANKRD39	NM_016466.5	64	0,23,6207	AA,AG,GG		0.2552,0.0473,0.1846	possibly-damaging	2/184	97523720	23,12437	2115	4115	6230	SO:0001583	missense	51239	exon1			GGCGTCGCCATCC	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"Ankyrin repeat domain containing"	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.5C>T	2.37:g.97523720G>A	ENSP00000377170:p.Ala2Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	5	NM_016466	0	0	7	7	0	Q59FU2|Q8N5X5|Q9P0S5	Missense_Mutation	SNP	ENST00000393537.4	37	CCDS2028.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997610	0.74818	4.73E-4	0.002552	ENSG00000213337	ENST00000393537	T	0.67171	-0.25	4.81	4.81	0.61882	.	0.101047	0.38272	U	0.001751	T	0.60573	0.2279	L	0.51422	1.61	0.29494	N	0.855429	D	0.61080	0.989	B	0.41466	0.358	T	0.67166	-0.5739	10	0.87932	D	0	-17.5479	13.2546	0.60070	0.0:0.0:1.0:0.0	.	2	Q53RE8	ANR39_HUMAN	V	2	ENSP00000377170:A2V	ENSP00000377170:A2V	A	-	2	0	ANKRD39	96887447	0.063000	0.20901	1.000000	0.80357	0.113000	0.19764	1.798000	0.38814	2.507000	0.84556	0.655000	0.94253	GCG	.		0.751	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	NM_016466		A	97523720	G	A	97523720	3	1	13	1	0	0	0	0	1	0	0	0	668	1087	38	1	562	1	ANKRD39	2	97523720	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	58473510	97523720	145675653	15	2983											
OSBPL6	114880	broad.mit.edu;bcgsc.ca	37	chr2	179251845	179251845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatcctgcctgttggaaCactgaatgtcatgcttccaa	9	10	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:179251845C>T	ENST00000190611.4	+	20	2511	c.2135C>T	c.(2134-2136)aCa>aTa	p.T712I	OSBPL6_ENST00000409045.3_Missense_Mutation_p.T681I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T676I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T676I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T737I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T716I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	712					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTGTTGGAACACTGAATGTC	0.408																																					p.T737I		.											.	OSBPL6-69	0			c.C2210T						.						118	105	110					2																	179251845		2203	4300	6503	SO:0001583	missense	114880	exon21			TTGGAACACTGAA	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2135C>T	2.37:g.179251845C>T	ENSP00000190611:p.Thr712Ile	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_001201480	0	0	6	6	0	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255298	0.80135	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.67	5.67	0.87782	.	0.042662	0.85682	D	0.000000	T	0.53690	0.1812	M	0.61703	1.905	0.80722	D	1	P;B;B;D;P	0.67145	0.812;0.087;0.057;0.996;0.822	P;B;B;D;P	0.63703	0.578;0.045;0.054;0.917;0.471	T	0.49234	-0.8961	10	0.54805	T	0.06	-18.5257	20.1421	0.98061	0.0:1.0:0.0:0.0	.	681;716;676;737;712	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	737;676;681;712;676;716	ENSP00000376293:T737I;ENSP00000352713:T676I;ENSP00000387248:T681I;ENSP00000190611:T712I;ENSP00000386885:T676I;ENSP00000318723:T716I	ENSP00000190611:T712I	T	+	2	0	OSBPL6	178960091	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	6.044000	0.71012	2.836000	0.97738	0.655000	0.94253	ACA	.		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		T	179251845	C	T	179251845	3	4	13	1	0	0	0	0	1	0	0	0	11320	478	17	3	2327	3	OSBPL6	2	179251845	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	81728125	179251845	63947528	16	2984											
ZC3H15	55854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	187373328	187373328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatggtgaaagaagtgacttGgaagaggacaacgagaggga	16	3	0	5			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:187373328G>T	ENST00000337859.6	+	10	1376	c.1149G>T	c.(1147-1149)ttG>ttT	p.L383F		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	383					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)			GAAGTGACTTGGAAGAGGACA	0.408																																					p.L383F		.											.	ZC3H15-91	0			c.G1149T						.						147	150	149					2																	187373328		1877	4115	5992	SO:0001583	missense	55854	exon10			TGACTTGGAAGAG		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.1149G>T	2.37:g.187373328G>T	ENSP00000338788:p.Leu383Phe	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	113	79	NM_018471	0	0	2	109	107	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295841	0.60086	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.32988	1.43	5.92	4.13	0.48395	.	0.174073	0.37906	N	0.001887	T	0.29190	0.0726	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.44597	0.454	T	0.02933	-1.1092	10	0.46703	T	0.11	-7.8612	9.0716	0.36495	0.2413:0.0:0.7587:0.0	.	383	Q8WU90	ZC3HF_HUMAN	F	383	ENSP00000338788:L383F	ENSP00000338788:L383F	L	+	3	2	ZC3H15	187081573	.	.	0.988000	0.46212	0.835000	0.47333	.	.	0.836000	0.34901	0.650000	0.86243	TTG	.		0.408	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		T	187373328	G	T	187373328	3	4	13	1	0	0	0	0	1	0	0	0	17615	1339	47	3	1187	3	ZC3H15	2	187373328	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	8121483	187373328	55826045	17	2985											
SMARCAL1	50485	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	217285234	217285234	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttattgcgctttttaaaCagatggattccagaagatat	7	7	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:217285234C>T	ENST00000357276.4	+	5	1405	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.Q359*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	359	HARP 2. {ECO:0000255|PROSITE- ProRule:PRU00800}.				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)		GCTTTTTAAACAGATGGATTC	0.443									Schimke Immuno-Osseous Dysplasia																												p.Q359X		.											.	SMARCAL1-293	0			c.C1075T						.						121	117	118					2																	217285234		2203	4300	6503	SO:0001587	stop_gained	50485	exon5	Familial Cancer Database	SIOD	TTTAAACAGATGG	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.1075C>T	2.37:g.217285234C>T	ENSP00000349823:p.Gln359*	Somatic	167	2		WXS	Illumina GAIIx	Phase_I	148	115	NM_014140	0	0	1	3	2	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822296	0.90873	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	.	.	.	4.7	4.7	0.59300	.	0.199915	0.43416	D	0.000576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-17.8114	16.3851	0.83502	0.0:1.0:0.0:0.0	.	.	.	.	X	359;359;258;223;79	.	ENSP00000349823:Q359X	Q	+	1	0	SMARCAL1	216993479	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.500000	0.35682	2.450000	0.82876	0.561000	0.74099	CAG	.		0.443	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			T	217285234	C	T	217285234	4	4	13	1	0	0	0	0	0	1	0	0	14818	479	17	3	1085	3	SMARCAL1	2	217285234	Nonsense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	29911906	217285234	25914139	18	2986											
FAM134A	79137	hgsc.bcm.edu	37	chr2	220043233	220043233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggtgggacgcctggcCacgacgctgtggctgcggct	19	12	0	0	rs375896695	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:220043233C>T	ENST00000430297.2	+	1	295	c.159C>T	c.(157-159)gcC>gcT	p.A53A	CNPPD1_ENST00000409789.1_5'Flank|CNPPD1_ENST00000360507.5_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	53						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCCTGGCCACGACGCTGT	0.731													C|||	12	0.00239617	8e-04	0.0043	5008	,	,		6688	0		0.006	False		,,,				2504	0.002				p.A53A		.											.	FAM134A-91	0			c.C159T						.	C		4,2988		0,4,1492	4	3	3		159	0.9	0.9	2		3	34,5790		0,34,2878	no	coding-synonymous	FAM134A	NM_024293.4		0,38,4370	TT,TC,CC		0.5838,0.1337,0.431		53/544	220043233	38,8778	1496	2912	4408	SO:0001819	synonymous_variant	79137	exon1			CCTGGCCACGACG	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.159C>T	2.37:g.220043233C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	15	NM_024293	0	0	0	3	3	Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	CCDS2434.1																																																																																			.		0.731	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		T	220043233	C	T	220043233	2	4	13	1	0	0	0	0	0	0	0	1	5464	581	21	3		3	FAM134A	2	220043233	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	2757999	220043233	23156140	19	2987											
SNED1	25992	hgsc.bcm.edu	37	chr2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcgcctgccggagcTgcgcctgctcaatgaccaca	12	18	1	1	rs17440466	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P|SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		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)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5	6	6		3683	4.4	1	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	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.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001080437	0	0	0	7	7	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	242011084	T	C	242011084	3	2	13	1	0	0	0	0	1	0	0	0	14890	1580	55	4	3781	4	SNED1	2	242011084	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	21967851	242011084	1188289	20	2988											
CX3CR1	1524	bcgsc.ca	37	chr3	39307256	39307256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctccaggaaaatcataaCgttgtagggtgtccagaaga	11	8	2	2	rs3732379	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr3:39307256C>T	ENST00000541347.1	-	2	984	c.745G>A	c.(745-747)Gtt>Att	p.V249I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.V249I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V249I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V281I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	249			V -> I (common polymorphism in Caucasian population; associated with a markedly reduced risk of acute coronary artery disease; associated with higher risk of developing ARMD12; chemotaxis of monocytes of individuals with homozygous Ile-249 and Met-280 genotypes is impaired in the presence of bound CX3CR1 protein; dbSNP:rs3732379). {ECO:0000269|PubMed:10731151, ECO:0000269|PubMed:11264153, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15208270, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAAATCATAACGTTGTAGGGT	0.483													C|||	723	0.144369	0.0893	0.2378	5008	,	,		22318	0.0278		0.2853	False		,,,				2504	0.1278				p.V281I		.											.	CX3CR1-658	0			c.G841A	GRCh37	CM000504	CX3CR1	M	rs3732379	.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	515,3329		36,443,1443	112	115	114	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	745,745,841,745	-2.3	0	3	dbSNP_107	114	2281,5975		311,1659,2158	yes	missense,missense,missense,missense	CX3CR1	NM_001171171.1,NM_001171172.1,NM_001171174.1,NM_001337.3	29,29,29,29	347,2102,3601	TT,TC,CC		27.6284,13.3975,23.1074	benign,benign,benign,benign	249/356,249/356,281/388,249/356	39307256	2796,9304	1922	4128	6050	SO:0001583	missense	1524	exon2			TCATAACGTTGTA	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.745G>A	3.37:g.39307256C>T	ENSP00000439140:p.Val249Ile	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	169	6	NM_001171174	0	0	1	1	0	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	380	0.17399267399267399	55	0.11178861788617886	93	0.2569060773480663	20	0.03496503496503497	212	0.2796833773087071	C	0.008	-1.863526	0.00552	0.133975	0.276284	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.77	-2.32	0.06745	GPCR, rhodopsin-like superfamily (1);	0.526611	0.21488	N	0.073733	T	0.00012	0.0000	N	0.10733	0.035	0.80722	P	0.0	B	0.19073	0.033	B	0.17433	0.018	T	0.11299	-1.0593	9	0.02654	T	1	.	12.3125	0.54935	0.0:0.3682:0.0:0.6318	rs3732379;rs17792918;rs52808794;rs59717546;rs3732379	249	P49238	CX3C1_HUMAN	I	249;257;281;249;249	ENSP00000382166:V249I;ENSP00000351059:V281I;ENSP00000439140:V249I;ENSP00000444928:V249I	ENSP00000351059:V281I	V	-	1	0	CX3CR1	39282260	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-1.393000	0.02521	-0.555000	0.06142	-0.794000	0.03295	GTT	C|0.832;T|0.168		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307256	C	T	39307256	3	4	13	1	0	0	0	0	1	0	0	0	4084	536	19	1	326	1	CX3CR1	3	39307256	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		39307256	158715174	21	2989											
VPRBP	9730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	51457650	51457650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggatgagcagtaggggcaGaaggcgcagaggcacccaca	17	9	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr3:51457650G>C	ENST00000335891.5	-	7	1436	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	925	Protein kinase-like.				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)		AGTAGGGGCAGAAGGCGCAGA	0.607																																					p.S872C		.											.	VPRBP-92	0			c.C2615G						.						54	58	57					3																	51457650		2067	4208	6275	SO:0001583	missense	9730	exon14			GGGGCAGAAGGCG	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.1427C>G	3.37:g.51457650G>C	ENSP00000338857:p.Ser476Cys	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	83	57	NM_014703	0	0	0	8	8	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101950	0.56183	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.46063	0.88;0.88	5.92	5.92	0.95590	.	0.483859	0.24854	N	0.035067	T	0.49270	0.1547	L	0.50333	1.59	0.39689	D	0.971017	B	0.31581	0.329	B	0.39562	0.303	T	0.49224	-0.8962	10	0.62326	D	0.03	-0.4046	20.3214	0.98679	0.0:0.0:1.0:0.0	.	925	Q9Y4B6	VPRBP_HUMAN	C	496;476	ENSP00000393183:S496C;ENSP00000338857:S476C	ENSP00000338857:S476C	S	-	2	0	VPRBP	51432690	1.000000	0.71417	0.981000	0.43875	0.645000	0.38454	7.373000	0.79623	2.804000	0.96469	0.655000	0.94253	TCT	.		0.607	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		C	51457650	G	C	51457650	3	2	13	1	0	0	0	0	1	0	0	0	17234	942	33	3	1793	3	VPRBP	3	51457650	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	12150394	51457650	146564780	22	2990											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	13	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	15093112	66550762	131471668	23	2991											
AMOTL2	51421	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	134089857	134089857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcgtcctgcctccgaCtgcctcccggggccccacgg	13	20	0	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr3:134089857C>A	ENST00000422605.2	-	2	585	c.419G>T	c.(418-420)aGt>aTt	p.S140I	AMOTL2_ENST00000249883.5_Missense_Mutation_p.S140I|AMOTL2_ENST00000514516.1_Missense_Mutation_p.S198I|AMOTL2_ENST00000513145.1_Missense_Mutation_p.S140I|AMOTL2_ENST00000511759.1_Intron			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	140					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCCTCCGACTGCCTCCCGG	0.692																																					p.S140I		.											.	AMOTL2-135	0			c.G419T						.						19	21	20					3																	134089857		2195	4286	6481	SO:0001583	missense	51421	exon2			CTCCGACTGCCTC	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.419G>T	3.37:g.134089857C>A	ENSP00000409999:p.Ser140Ile	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	75	18	NM_016201	0	0	2	2	0	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37		.	.	.	.	.	.	.	.	.	.	C	10.54	1.377846	0.24944	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145;ENST00000510560;ENST00000504234;ENST00000505596	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	4.53	1.25	0.21368	.	0.911595	0.09608	N	0.779295	T	0.11580	0.0282	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31351	0.115;0.32;0.214	B;B;B	0.34138	0.176;0.176;0.136	T	0.36065	-0.9763	10	0.42905	T	0.14	0.1858	5.19	0.15205	0.1295:0.5383:0.2523:0.0799	.	140;140;198	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	I	140;140;198;140;140;140;140	ENSP00000249883:S140I;ENSP00000409999:S140I;ENSP00000424765:S198I;ENSP00000425475:S140I;ENSP00000427184:S140I;ENSP00000424910:S140I	ENSP00000249883:S140I	S	-	2	0	AMOTL2	135572547	0.000000	0.05858	0.002000	0.10522	0.569000	0.35902	-0.528000	0.06193	-0.022000	0.13986	0.462000	0.41574	AGT	.		0.692	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		A	134089857	C	A	134089857	3	1	13	1	0	0	0	0	1	0	0	0	584	565	20	3	1959	3	AMOTL2	3	134089857	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	67539095	134089857	63932573	24	2992											
NAALADL2	254827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	174814615	174814615	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagaaggtccatgcagatCaaagagctccaggacactca	9	11	3	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr3:174814615C>T	ENST00000454872.1	+	2	207	c.79C>T	c.(79-81)Caa>Taa	p.Q27*	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	27						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCATGCAGATCAAAGAGCTCC	0.378																																					p.Q27X		.											.	NAALADL2-47	0			c.C79T						.						40	36	37					3																	174814615		1871	4110	5981	SO:0001587	stop_gained	254827	exon2			GCAGATCAAAGAG		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.79C>T	3.37:g.174814615C>T	ENSP00000404705:p.Gln27*	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	131	102	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Nonsense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431105	0.96150	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	.	.	.	5.72	4.84	0.62591	.	0.259532	0.27495	N	0.019112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.9467	14.1142	0.65142	0.2735:0.7265:0.0:0.0	.	.	.	.	X	10;27	.	ENSP00000409858:Q10X	Q	+	1	0	NAALADL2	176297309	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.859000	0.39418	1.531000	0.49152	0.650000	0.86243	CAA	.		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		T	174814615	C	T	174814615	4	4	13	1	0	0	0	0	0	1	0	0	10168	827	29	3	85	3	NAALADL2	3	174814615	Nonsense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	40724758	174814615	23207815	25	2993											
SH3BP2	6452	bcgsc.ca	37	chr4	2826400	2826400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttcaagatcatccaTatcagcaagaagcaccgcac	5	15	3	2	rs3213501	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:2826400T>C	ENST00000356331.5	+	4	561	c.300T>C	c.(298-300)caT>caC	p.H100H	SH3BP2_ENST00000435136.2_Silent_p.H100H|SH3BP2_ENST00000511747.1_Silent_p.H100H|SH3BP2_ENST00000442312.2_Silent_p.H128H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Silent_p.H157H|SH3BP2_ENST00000452765.2_Silent_p.H100H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	100	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGATCATCCATATCAGCAAGA	0.627									Cherubism				c|||	3944	0.78754	0.9871	0.8271	5008	,	,		20468	0.5546		0.7197	False		,,,				2504	0.7996				p.H157H		.											.	SH3BP2-514	0			c.T471C						.	C	,,,	4153,253	145.4+/-180.2	1962,229,12	101	94	96		300,384,471,300	3.8	1	4	dbSNP_106	96	6215,2385	396.3+/-345.4	2270,1675,355	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SH3BP2	NM_001122681.1,NM_001145855.1,NM_001145856.1,NM_003023.4	,,,	4232,1904,367	CC,CT,TT		27.7326,5.7422,20.2829	,,,	100/562,128/590,157/619,100/562	2826400	10368,2638	2203	4300	6503	SO:0001819	synonymous_variant	6452	exon4	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	CATCCATATCAGC	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.300T>C	4.37:g.2826400T>C		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	116	6	NM_001145856	0	0	4	4	0	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	CCDS33944.1																																																																																			T|0.225;C|0.775		0.627	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		C	2826400	T	C	2826400	2	2	13	1	0	0	0	0	0	0	0	1	14290	1403	49	4		4	SH3BP2	4	2826400	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		2826400	188327876	26	2994											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30725207	30725207	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgggggagatcctccCagatctgccacagctacagt	13	11	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:30725207C>A	ENST00000361762.2	+	1	3171	c.2163C>A	c.(2161-2163)ccC>ccA	p.P721P	PCDH7_ENST00000543491.1_Silent_p.P721P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	721	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAGATCCTCCCAGATCTGCCA	0.468																																					p.P721P		.											.	PCDH7-229	0			c.C2163A						.						101	96	98					4																	30725207		2203	4300	6503	SO:0001819	synonymous_variant	5099	exon1			TCCTCCCAGATCT	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.2163C>A	4.37:g.30725207C>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	189	79	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	2.552	-0.303954	0.05495	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.25	2.32	0.28847	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47598	-0.9105	4	.	.	.	.	6.7579	0.23524	0.2159:0.6171:0.0:0.167	.	.	.	.	K	411	.	.	Q	+	1	0	PCDH7	30334305	0.062000	0.20869	0.881000	0.34555	0.986000	0.74619	-0.416000	0.07097	0.762000	0.33152	0.655000	0.94253	CAG	.		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30725207	C	A	30725207	2	1	13	1	0	0	0	0	0	0	0	1	11555	581	21	3		3	PCDH7	4	30725207	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	27898807	30725207	160429069	27	2995											
NMU	10874	hgsc.bcm.edu	37	chr4	56502307	56502307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagcggggacgccGcggccacctgtccggcgggc	19	15	0	0	rs3828555	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:56502307G>T	ENST00000264218.3	-	1	158	c.53C>A	c.(52-54)gCg>gAg	p.A18E	NMU_ENST00000505262.1_Missense_Mutation_p.A18E|NMU_ENST00000507338.1_Missense_Mutation_p.A18E|NMU_ENST00000511469.1_Missense_Mutation_p.A18E|NMU_ENST00000515325.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	18					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		cGGGGACGCCGCGGCCACCTG	0.761													G|||	730	0.145767	0.0764	0.2003	5008	,	,		10197	0.3343		0.0199	False		,,,				2504	0.136				p.A18E		.											.	NMU-650	0			c.C53A						.	G	GLU/ALA	168,3058		3,162,1448	5	7	6		53	0.1	0	4	dbSNP_107	6	138,5846		0,138,2854	no	missense	NMU	NM_006681.2	107	3,300,4302	TT,TG,GG		2.3061,5.2077,3.3225	probably-damaging	18/175	56502307	306,8904	1613	2992	4605	SO:0001583	missense	10874	exon1			GACGCCGCGGCCA	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.53C>A	4.37:g.56502307G>T	ENSP00000264218:p.Ala18Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_006681	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	315	0.14423076923076922	55	0.11178861788617886	55	0.15193370165745856	187	0.3269230769230769	18	0.023746701846965697	G	17.40	3.379938	0.61845	0.052077	0.023061	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.35973	1.28;1.42;1.4;1.39	2.89	0.0796	0.14417	.	1.355690	0.05554	U	0.568010	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	P	0.38827	0.649	B	0.37015	0.239	T	0.31110	-0.9955	9	0.62326	D	0.03	-4.4644	5.3309	0.15932	0.4241:0.0:0.5759:0.0	rs3828555	18	P48645	NMU_HUMAN	E	18	ENSP00000422399:A18E;ENSP00000264218:A18E;ENSP00000424246:A18E;ENSP00000422870:A18E	ENSP00000264218:A18E	A	-	2	0	NMU	56197064	0.000000	0.05858	0.003000	0.11579	0.256000	0.26092	0.190000	0.17057	-0.022000	0.13986	0.195000	0.17529	GCG	G|0.853;T|0.147		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56502307	G	T	56502307	3	4	13	1	0	0	0	0	1	0	0	0	10544	1087	38	2	507	2	NMU	4	56502307	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	25777100	56502307	134651969	28	2996											
RASGEF1B	153020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	82366716	82366716	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgaagttgccaatgtTaaaacactcccgagctacgt	10	9	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:82366716T>G	ENST00000264400.2	-	8	1043	c.892A>C	c.(892-894)Aac>Cac	p.N298H	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.N256H|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.N297H	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	298	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTGCCAATGTTAAAACACTCC	0.393																																					p.N298H		.											.	RASGEF1B-227	0			c.A892C						.						141	146	145					4																	82366716		2203	4300	6503	SO:0001583	missense	153020	exon8			CAATGTTAAAACA	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.892A>C	4.37:g.82366716T>G	ENSP00000264400:p.Asn298His	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	139	58	NM_152545	0	0	0	0	0	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579053	0.86645	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.3	5.3	0.74995	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.72479	2.2	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72982	0.965;0.972;0.979	T	0.56463	-0.7975	10	0.54805	T	0.06	.	15.0681	0.72011	0.0:0.0:0.0:1.0	.	256;297;298	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	H	297;298;256;143	ENSP00000425393:N297H;ENSP00000264400:N298H;ENSP00000338437:N256H;ENSP00000426929:N143H	ENSP00000264400:N298H	N	-	1	0	RASGEF1B	82585740	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.513000	0.81739	2.216000	0.71823	0.533000	0.62120	AAC	.		0.393	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		G	82366716	T	G	82366716	3	3	13	1	0	0	0	0	1	0	0	0	13115	1754	61	5	557	5	RASGEF1B	4	82366716	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	25864409	82366716	108787560	29	2997											
COQ2	27235	hgsc.bcm.edu	37	chr4	84205872	84205872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacgccagtgccaCagcccgcaggccccgcgcga	13	20	0	0	rs6818847	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:84205872C>A	ENST00000311469.4	-	1	195	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	COQ2_ENST00000311461.7_Missense_Mutation_p.V16L|COQ2_ENST00000439031.2_Missense_Mutation_p.V29L	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	16					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GCCAGTGCCACAGCCCGCAGG	0.766													C|||	3254	0.64976	0.3775	0.647	5008	,	,		9689	0.8879		0.7227	False		,,,				2504	0.6994				p.V66L		.											.	COQ2-92	0			c.G196T						.	C	LEU/VAL	1570,1290		474,622,334	2	3	3		196	-2.7	0	4	dbSNP_116	3	4779,1627		1892,995,316	no	missense	COQ2	NM_015697.7	32	2366,1617,650	AA,AC,CC		25.3981,45.1049,31.4807	benign	66/422	84205872	6349,2917	1430	3203	4633	SO:0001583	missense	27235	exon1			GTGCCACAGCCCG		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.196G>T	4.37:g.84205872C>A	ENSP00000310873:p.Val66Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	1475	0.6753663003663004	219	0.4451219512195122	244	0.6740331491712708	490	0.8566433566433567	522	0.6886543535620053	C	5.506	0.278257	0.10403	0.548951	0.746019	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	T;T;T	0.77098	-1.07;-1.03;-1.0	3.59	-2.74	0.05932	.	2.205390	0.02429	N	0.083323	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	8	0.07813	T	0.8	-2.056	4.7989	0.13287	0.0:0.2608:0.3311:0.4081	rs6818847;rs17850399;rs17858544	16	E2QRG7	.	L	66;29;16	ENSP00000310873:V66L;ENSP00000409275:V29L;ENSP00000311835:V16L	ENSP00000311835:V16L	V	-	1	0	COQ2	84424896	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.921000	0.01569	-0.746000	0.04766	0.467000	0.42956	GTG	C|0.324;A|0.676		0.766	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		A	84205872	C	A	84205872	3	1	13	1	0	0	0	0	1	0	0	0	3752	478	17	3	1097	3	COQ2	4	84205872	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1839156	84205872	106948404	30	2998											
DSPP	1834	bcgsc.ca	37	chr4	88537126	88537126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcagcgacagcagcgaCagcagcgatagcagtgacag	14	10	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr4:88537126C>T	ENST00000282478.7	+	4	3345	c.3312C>T	c.(3310-3312)gaC>gaT	p.D1104D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1104D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1104	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)		acagcagcgacagcagcgata	0.542																																					p.D1104D		.											.	DSPP-90	0			c.C3312T						.						13	18	17					4																	88537126		1133	2209	3342	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGC	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.3312C>T	4.37:g.88537126C>T		Somatic	164	3		WXS	Illumina GAIIx	Phase_I	346	28	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537126	C	T	88537126	2	4	13	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537126	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	4331254	88537126	102617150	31	2999											
ADAMTS16	170690	hgsc.bcm.edu	37	chr5	5140632	5140632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcgctgtggatgctgTtggcgcaggtggccgagcag	20	9	0	0	rs270208	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:5140632T>C	ENST00000274181.7	+	1	190	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	ADAMTS16_ENST00000511368.1_Silent_p.L18L|CTD-2297D10.1_ENST00000514848.1_RNA|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18					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						GTGGATGCTGTTGGCGCAGGT	0.766													C|||	3127	0.624401	0.6747	0.6571	5008	,	,		8861	0.8065		0.501	False		,,,				2504	0.4724				p.L18L		.											.	ADAMTS16-275	0			c.T52C						.	C		2046,874		775,496,189	2	5	4		52	1.2	1	5	dbSNP_79	4	3653,3047		1121,1411,818	no	coding-synonymous	ADAMTS16	NM_139056.2		1896,1907,1007	CC,CT,TT		45.4776,29.9315,40.7588		18/1225	5140632	5699,3921	1460	3350	4810	SO:0001819	synonymous_variant	170690	exon1			ATGCTGTTGGCGC	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.52T>C	5.37:g.5140632T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			T|0.352;C|0.648		0.766	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5140632	T	C	5140632	2	2	13	1	0	0	0	0	0	0	0	1	261	1722	60	4		4	ADAMTS16	5	5140632	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		5140632	175774628	32	3000											
MAST4	375449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	66429340	66429340	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtccgtctgcctcatAgcttgttggttacctccatg	8	12	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:66429340A>G	ENST00000403625.2	+	17	2388		c.e17-1		MAST4_ENST00000403666.1_Splice_Site|MAST4_ENST00000404260.3_Splice_Site|MAST4_ENST00000261569.7_Splice_Site|MAST4_ENST00000405643.1_Splice_Site	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4							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)		TCTGCCTCATAGCTTGTTGGT	0.398																																					.		.											.	MAST4-647	0			c.2094-2A>G						.						161	159	159					5																	66429340		1911	4125	6036	SO:0001630	splice_region_variant	375449	exon17			CCTCATAGCTTGT	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.2094-1A>G	5.37:g.66429340A>G		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	251	41	NM_001164664	0	0	0	0	0	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Splice_Site	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623899	0.87460	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5827	0.76459	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST4	66465096	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	9.287000	0.95975	2.141000	0.66446	0.460000	0.39030	.	.		0.398	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		Intron	G	66429340	A	G	66429340	5	3	13	1	0	0	0	0	0	0	1	0	9365	434	15	4	2288	4	MAST4	5	66429340	Splice_Site	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	61288708	66429340	114485920	33	3001											
PDE8B	8622	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	76717663	76717663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattgaaggcagcgactgTgaatgcaaccctgctgggaa	13	9	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:76717663T>G	ENST00000264917.5	+	20	2313	c.2268T>G	c.(2266-2268)tgT>tgG	p.C756W	PDE8B_ENST00000505283.1_Missense_Mutation_p.C221W|PDE8B_ENST00000340978.3_Missense_Mutation_p.C709W|PDE8B_ENST00000346042.3_Missense_Mutation_p.C659W|PDE8B_ENST00000333194.4_Missense_Mutation_p.C701W|PDE8B_ENST00000342343.4_Missense_Mutation_p.C736W	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	756	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCAGCGACTGTGAATGCAACC	0.512																																					p.C756W		.											.	PDE8B-90	0			c.T2268G						.						105	93	97					5																	76717663		2203	4300	6503	SO:0001583	missense	8622	exon20			CGACTGTGAATGC	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2268T>G	5.37:g.76717663T>G	ENSP00000264917:p.Cys756Trp	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	278	36	NM_003719	0	0	16	17	1	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791326	0.50102	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.71222	-0.43;-0.43;-0.55;-0.55;-0.4;-0.46	5.18	1.47	0.22746	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.742908	0.13927	N	0.353163	T	0.66376	0.2783	N	0.17631	0.505	0.80722	D	1	P;P;P;P;P	0.47841	0.796;0.88;0.88;0.88;0.901	B;P;P;P;P	0.56343	0.267;0.694;0.753;0.694;0.796	T	0.59337	-0.7473	10	0.38643	T	0.18	.	9.6624	0.39962	0.0:0.3777:0.0:0.6223	.	659;709;701;736;756	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	W	709;659;756;736;701;221	ENSP00000345446:C709W;ENSP00000330428:C659W;ENSP00000264917:C756W;ENSP00000345646:C736W;ENSP00000331336:C701W;ENSP00000423461:C221W	ENSP00000264917:C756W	C	+	3	2	PDE8B	76753419	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.539000	0.23175	0.106000	0.17784	0.533000	0.62120	TGT	.		0.512	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		G	76717663	T	G	76717663	3	3	13	1	0	0	0	0	1	0	0	0	11693	1702	59	5	2346	5	PDE8B	5	76717663	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	10288323	76717663	104197597	34	3002											
ADAMTS19	171019	broad.mit.edu;bcgsc.ca	37	chr5	129037114	129037114	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaccccttgttcacgAacttgtggaaaaggaatgca	11	8	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:129037114A>T	ENST00000274487.4	+	20	3115	c.2970A>T	c.(2968-2970)cgA>cgT	p.R990R	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	990	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGTTCACGAACTTGTGGAA	0.458																																					p.R990R		.											.	ADAMTS19-295	0			c.A2970T						.						117	110	112					5																	129037114		2203	4300	6503	SO:0001819	synonymous_variant	171019	exon20			TTCACGAACTTGT	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2970A>T	5.37:g.129037114A>T		Somatic	250	0		WXS	Illumina GAIIx	Phase_I	348	9	NM_133638	0	0	0	0	0		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																			.		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129037114	A	T	129037114	2	4	13	1	0	0	0	0	0	0	0	1	264	233	9	5		5	ADAMTS19	5	129037114	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	52319451	129037114	51878146	35	3003											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	13	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3112570	132149684	48765576	36	3004											
PCDHB2	56133	broad.mit.edu	37	chr5	140476411	140476411	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcccggaggcggcAccggcccaggcccaggccga	15	18	0	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687																																					p.A679A		.											.	PCDHB2-96	1	Substitution - coding silent(1)	lung(1)	c.A2037C						.						65	67	66					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133	exon1			GGCGGCACCGGCC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	5.37:g.140476411A>C		Somatic	45	1		WXS	Illumina GAIIx	Phase_I	233	11	NM_018936	0	0	17	17	0	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			.		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476411	A	C	140476411	2	2	13	1	0	0	0	0	0	0	0	1	11581	146	6	5		5	PCDHB2	5	140476411	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	8326727	140476411	40438849	37	3005											
PCDHGA7	56108	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140764326	140764326	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactctttgcggttggGctgtacacgggcgaggtgcg	17	10	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:140764326G>T	ENST00000518325.1	+	1	1860	c.1860G>T	c.(1858-1860)ggG>ggT	p.G620G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	620	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGGTTGGGCTGTACACGG	0.642																																					p.G620G		.											.	.	0			c.G1860T						.						46	54	51					5																	140764326		2203	4300	6503	SO:0001819	synonymous_variant	56108	exon1			GGTTGGGCTGTAC	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1860G>T	5.37:g.140764326G>T		Somatic	222	1		WXS	Illumina GAIIx	Phase_I	407	67	NM_032087	0	0	2	10	8	B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																			.		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		T	140764326	G	T	140764326	2	4	13	1	0	0	0	0	0	0	0	1	11598	1190	42	3		3	PCDHGA7	5	140764326	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	287915	140764326	40150934	38	3006											
FLT4	2324	broad.mit.edu;bcgsc.ca	37	chr5	180048668	180048668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctgagcgtggcgtggcGcgccccaggtgccacctcct	15	16	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr5:180048668G>T	ENST00000261937.6	-	13	1972	c.1894C>A	c.(1894-1896)Cgc>Agc	p.R632S	FLT4_ENST00000393347.3_Missense_Mutation_p.R632S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R632S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	632	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGCGTGGCGCGCCCCAGGT	0.677																																					p.R632S	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.C1894A						.						26	25	26					5																	180048668		2200	4294	6494	SO:0001583	missense	2324	exon13			CGTGGCGCGCCCC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1894C>A	5.37:g.180048668G>T	ENSP00000261937:p.Arg632Ser	Somatic	50	1		WXS	Illumina GAIIx	Phase_I	303	130	NM_182925	0	0	5	5	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.823083	0.32237	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.40756	1.02;1.02;1.02	4.57	2.59	0.31030	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.	.	.	.	T	0.33440	0.0863	L	0.44542	1.39	0.09310	N	1	P;B;B;B	0.40083	0.702;0.079;0.025;0.044	B;B;B;B	0.41374	0.355;0.125;0.125;0.176	T	0.10870	-1.0611	9	0.06494	T	0.89	.	12.1317	0.53946	0.0:0.0:0.5612:0.4388	.	632;442;632;632	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	S	632;632;632;442	ENSP00000261937:R632S;ENSP00000377016:R632S;ENSP00000426057:R632S	ENSP00000261937:R632S	R	-	1	0	FLT4	179981274	0.116000	0.22171	0.740000	0.30986	0.626000	0.37791	0.548000	0.23314	1.030000	0.39839	0.511000	0.50034	CGC	.		0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180048668	G	T	180048668	3	4	13	1	0	0	0	0	1	0	0	0	5966	1087	38	2	2277	2	FLT4	5	180048668	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	39284342	180048668	866592	39	3007											
ATXN1	6310	broad.mit.edu	37	chr6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC													gccccggagccctgctgaggINStgctgctgctgctgctgctg							TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		.											.	ATXN1-93	0			c.678_679insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	40	15	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327865	-	TGC	16327864	7	5	13	1	0	1	1	0	0	0	0	0	1210	1252	44	0	1777	0	ATXN1	6	16327864	In_Frame_Ins	INS	-	TCGA-OR-A5JF-01A-11D-A29I-10		16327864	154787203	40	3008											
SLC44A4	80736	bcgsc.ca	37	chr6	31842598	31842598	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttcccacagtccatgggTcctccgggcaggaggacaca	11	13	0	0	rs12661281	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:31842598T>A	ENST00000229729.6	-	6	388	c.368A>T	c.(367-369)gAc>gTc	p.D123V	SLC44A4_ENST00000544672.1_Missense_Mutation_p.D47V|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	123			D -> V (in dbSNP:rs12661281).		acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGTCCATGGGTCCTCCGGGCA	0.542													T|||	473	0.0944489	0.0068	0.183	5008	,	,		20016	0.1022		0.1491	False		,,,				2504	0.0859				p.D123V		.											.	SLC44A4-156	0			c.A368T						.	T	,VAL/ASP,VAL/ASP	127,4279	93.4+/-132.2	1,125,2077	71	75	73		,140,368	-9.7	0	6	dbSNP_120	73	1322,7278	261.2+/-283.7	90,1142,3068	yes	intron,missense,missense	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	,152,152	91,1267,5145	AA,AT,TT		15.3721,2.8824,11.141	,benign,benign	,47/635,123/711	31842598	1449,11557	2203	4300	6503	SO:0001583	missense	80736	exon6			CATGGGTCCTCCG	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.368A>T	6.37:g.31842598T>A	ENSP00000229729:p.Asp123Val	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	85	5	NM_025257	0	0	4	4	0	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	248|248	0.11355311355311355|0.11355311355311355	6|6	0.012195121951219513|0.012195121951219513	67|67	0.1850828729281768|0.1850828729281768	69|69	0.12062937062937062|0.12062937062937062	106|106	0.13984168865435356|0.13984168865435356	T|T	11.13|11.13	1.549042|1.549042	0.27652|0.27652	0.028824|0.028824	0.153721|0.153721	ENSG00000204385|ENSG00000204385	ENST00000229729;ENST00000544672|ENST00000414427	T;T|.	0.18657|.	2.2;2.2|.	4.9|4.9	-9.67|-9.67	0.00531|0.00531	.|.	3.055490|.	0.00649|.	N|.	0.000555|.	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.13710|0.13710	-1.0499|-1.0499	9|4	0.49607|.	T|.	0.09|.	-27.1204|-27.1204	10.1697|10.1697	0.42902|0.42902	0.075:0.0:0.3333:0.5917|0.075:0.0:0.3333:0.5917	rs12661281;rs52792968;rs12661281|rs12661281;rs52792968;rs12661281	123|.	Q53GD3|.	CTL4_HUMAN|.	V|S	123;47|119	ENSP00000229729:D123V;ENSP00000444109:D47V|.	ENSP00000229729:D123V|.	D|T	-|-	2|1	0|0	SLC44A4|SLC44A4	31950577|31950577	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.103000|0.103000	0.19146|0.19146	-3.226000|-3.226000	0.00550|0.00550	-2.288000|-2.288000	0.00668|0.00668	-0.144000|-0.144000	0.13903|0.13903	GAC|ACC	T|0.871;A|0.129		0.542	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			A	31842598	T	A	31842598	3	1	13	1	0	0	0	0	1	0	0	0	14683	1667	58	5	1828	5	SLC44A4	6	31842598	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	15514734	31842598	139272469	41	3009											
B3GAT2	135152	hgsc.bcm.edu	37	chr6	71665731	71665731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtgagtgctgggcagCccggcccgcgccaggaagcg	18	13	0	1	rs149577161	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:71665731C>T	ENST00000230053.6	-	1	1010	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	134					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCTGGGCAGCCCGGCCCGCG	0.756													C|||	17	0.00339457	8e-04	0.0072	5008	,	,		10988	0		0.0099	False		,,,				2504	0.001				p.G134G		.											.	B3GAT2-93	0			c.G402A						.	C		15,4123		0,15,2054	5	6	6		402	2.4	1	6	dbSNP_134	6	94,7904		0,94,3905	no	coding-synonymous	B3GAT2	NM_080742.2		0,109,5959	TT,TC,CC		1.1753,0.3625,0.8982		134/324	71665731	109,12027	2069	3999	6068	SO:0001819	synonymous_variant	135152	exon1			GGGCAGCCCGGCC	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.402G>A	6.37:g.71665731C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	16	NM_080742	0	0	0	0	0	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																			C|0.993;T|0.007		0.756	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		T	71665731	C	T	71665731	2	4	13	1	0	0	0	0	0	0	0	1	1255	726	26	3		3	B3GAT2	6	71665731	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	39823133	71665731	99449336	42	3010											
RARS2	57038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	88229355	88229355	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaatctcatttaaaacatCttccaggaaagtgacatctc	5	9	3	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:88229355C>G	ENST00000369536.5	-	14	1228	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	395					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTAAAACATCTTCCAGGAAA	0.388																																					p.D395H		.											.	RARS2-92	0			c.G1183C						.						124	115	118					6																	88229355		2203	4300	6503	SO:0001583	missense	57038	exon14			AAACATCTTCCAG	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1183G>C	6.37:g.88229355C>G	ENSP00000358549:p.Asp395His	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	147	104	NM_020320	0	0	0	43	43	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086235	0.94100	.	.	ENSG00000146282	ENST00000369536	T	0.70631	-0.5	5.97	5.97	0.96955	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88034	0.2777	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	395;220	Q5T160;E1P510	SYRM_HUMAN;.	H	395	ENSP00000358549:D395H	ENSP00000358549:D395H	D	-	1	0	RARS2	88286074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GAT	.		0.388	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		G	88229355	C	G	88229355	3	3	13	1	0	0	0	0	1	0	0	0	13104	913	32	3	581	3	RARS2	6	88229355	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	16563624	88229355	82885712	43	3011											
NUS1	116150	broad.mit.edu;bcgsc.ca	37	chr6	118015275	118015275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagagctgctcaggacttttGccagttagtagcccagaagc	11	10	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:118015275G>C	ENST00000368494.3	+	3	792	c.623G>C	c.(622-624)tGc>tCc	p.C208S		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	208					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		CAGGACTTTTGCCAGTTAGTA	0.363																																					p.C208S		.											.	NUS1-108	0			c.G623C						.						105	109	107					6																	118015275		2203	4300	6503	SO:0001583	missense	116150	exon3			ACTTTTGCCAGTT	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)"	610463	"chromosome 6 open reading frame 68"	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.623G>C	6.37:g.118015275G>C	ENSP00000357480:p.Cys208Ser	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	227	17	NM_138459	0	0	42	42	0	B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	37	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041445	0.75732	.	.	ENSG00000153989	ENST00000368494	T	0.16897	2.31	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01652	-1.1303	10	0.52906	T	0.07	-14.1694	18.8944	0.92417	0.0:0.0:1.0:0.0	.	208	Q96E22	NGBR_HUMAN	S	208	ENSP00000357480:C208S	ENSP00000357480:C208S	C	+	2	0	NUS1	118121968	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.523000	0.73787	2.537000	0.85549	0.650000	0.86243	TGC	.		0.363	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		C	118015275	G	C	118015275	3	2	13	1	0	0	0	0	1	0	0	0	10816	1319	46	3	633	3	NUS1	6	118015275	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	29785920	118015275	53099792	44	3012											
SMOC2	64094	hgsc.bcm.edu	37	chr6	168842113	168842113	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgccggtgcccgcTcagaagttctcggcgctcac	11	18	3	1	rs73270928	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2	3	3		63,63	-0.4	1	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	55	11	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168842113	T	G	168842113	2	3	13	1	0	0	0	0	0	0	0	1	14847	1538	54	5		5	SMOC2	6	168842113	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	50826838	168842113	2272954	45	3013											
SCIN	85477	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	12664641	12664641	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtttttatattaggtttcaGatgcaagtggctccatgaga	11	5	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:12664641G>C	ENST00000297029.5	+	6	867	c.766G>C	c.(766-768)Gat>Cat	p.D256H	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Missense_Mutation_p.D9H|SCIN_ENST00000445618.2_Missense_Mutation_p.D9H	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	256	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTAGGTTTCAGATGCAAGTGG	0.413																																					p.D256H		.											.	SCIN-24	0			c.G766C						.						42	44	43					7																	12664641		1886	4126	6012	SO:0001583	missense	85477	exon6			GTTTCAGATGCAA	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.766G>C	7.37:g.12664641G>C	ENSP00000297029:p.Asp256His	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	106	7	NM_001112706	0	0	0	0	0	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683318	0.68157	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000519209;ENST00000445618	T;T;T;T	0.30182	1.54;2.18;1.54;1.54	5.53	5.53	0.82687	.	0.101660	0.64402	D	0.000004	T	0.65026	0.2652	M	0.90082	3.085	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.71846	-0.4469	10	0.87932	D	0	-29.6195	19.8304	0.96632	0.0:0.0:1.0:0.0	.	256	Q9Y6U3	ADSV_HUMAN	H	256;97;9;9	ENSP00000297029:D256H;ENSP00000429598:D97H;ENSP00000430997:D9H;ENSP00000390189:D9H	ENSP00000297029:D256H	D	+	1	0	SCIN	12631166	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.375000	0.73137	2.775000	0.95449	0.585000	0.79938	GAT	.		0.413	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		C	12664641	G	C	12664641	3	2	13	1	0	0	0	0	1	0	0	0	13950	942	33	3	788	3	SCIN	7	12664641	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		12664641	146474022	46	3014											
AMPH	273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	38500996	38500996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaggtagaggtgggacagGaggccctttccttgtctagg	15	7	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:38500996G>A	ENST00000356264.2	-	11	1119	c.904C>T	c.(904-906)Cct>Tct	p.P302S	AMPH_ENST00000428293.2_Missense_Mutation_p.P302S|AMPH_ENST00000325590.5_Missense_Mutation_p.P302S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	302					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGTGGGACAGGAGGCCCTTTC	0.448																																					p.P302S		.											.	AMPH-95	0			c.C904T						.						155	155	155					7																	38500996		2203	4300	6503	SO:0001583	missense	273	exon11			GGACAGGAGGCCC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.904C>T	7.37:g.38500996G>A	ENSP00000348602:p.Pro302Ser	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	260	54	NM_139316	0	0	0	0	0	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.607372|4.607372	0.87157|0.87157	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76828|0.76828	0.4042|0.4042	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.74429|0.74429	-0.3668|-0.3668	10|5	0.42905|.	T|.	0.14|.	-15.263|-15.263	19.9922|19.9922	0.97370|0.97370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	302;302;58|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	S|F	302;302;302;72;305|52	ENSP00000317441:P302S;ENSP00000348602:P302S;ENSP00000390734:P302S|.	ENSP00000317441:P302S|.	P|S	-|-	1|2	0|0	AMPH|AMPH	38467521|38467521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.948000|5.948000	0.70249|0.70249	2.740000|2.740000	0.93945|0.93945	0.557000|0.557000	0.71058|0.71058	CCT|TCC	.		0.448	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38500996	G	A	38500996	3	1	13	1	0	0	0	0	1	0	0	0	588	1174	41	3	1227	3	AMPH	7	38500996	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	25836355	38500996	120637667	47	3015											
CDK13	8621	hgsc.bcm.edu	37	chr7	39990355	39990355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccctcagcagccgccgCtgctgttgccgctcctgcag	11	18	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:39990355C>T	ENST00000181839.4	+	1	720	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	CDK13_ENST00000340829.5_Silent_p.L39L|RP11-467D6.1_ENST00000569710.1_RNA	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	39					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAgccgccgctgctgttgcc	0.751																																					p.L39L		.											.	CDK13-548	0			c.C115T						.						6	5	5					7																	39990355		1070	2264	3334	SO:0001819	synonymous_variant	8621	exon1			CCGCCGCTGCTGT	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.115C>T	7.37:g.39990355C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	9	NM_003718	0	0	2	3	1	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	CCDS5461.1																																																																																			.		0.751	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	39990355	C	T	39990355	2	4	13	1	0	0	0	0	0	0	0	1	3136	796	28	3		3	CDK13	7	39990355	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1489359	39990355	119148308	48	3016											
COL1A2	1278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggtccttctggtcctgttGgtcctgctggtgctgttggc	15	10	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:94055328G>C	ENST00000297268.6	+	45	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	988					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)																											p.G988R		.											.	COL1A2-521	0			c.G2962C						.						168	157	161					7																	94055328		2203	4300	6503	SO:0001583	missense	1278	exon45			CCTGTTGGTCCTG	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2962G>C	7.37:g.94055328G>C	ENSP00000297268:p.Gly988Arg	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	124	46	NM_000089	0	0	63	63	0	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514600	0.64522	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98807	-5.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97940	1.0325	10	0.87932	D	0	.	17.53	0.87811	0.0:0.0:1.0:0.0	.	988	P08123	CO1A2_HUMAN	R	988;989	ENSP00000297268:G988R	ENSP00000297268:G988R	G	+	1	0	COL1A2	93893264	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	8.890000	0.92477	2.894000	0.99253	0.655000	0.94253	GGT	.		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94055328	G	C	94055328	3	2	13	1	0	0	0	0	1	0	0	0	3685	1348	47	3	3140	3	COL1A2	7	94055328	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	54064973	94055328	65083335	49	3017											
LMTK2	22853	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	97821142	97821142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttgccagggaccggctGggtcgtgaaatggaggaagt	16	8	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:97821142G>A	ENST00000297293.5	+	11	1658	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	455					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)					GGGACCGGCTGGGTCGTGAAA	0.562																																					p.L455L		.											.	LMTK2-1381	0			c.G1365A						.						74	65	68					7																	97821142		2203	4300	6503	SO:0001819	synonymous_variant	22853	exon11			CCGGCTGGGTCGT	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.1365G>A	7.37:g.97821142G>A		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	204	33	NM_014916	0	0	1	3	2	A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																			.		0.562	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97821142	G	A	97821142	2	1	13	1	0	0	0	0	0	0	0	1	8889	1335	47	3		3	LMTK2	7	97821142	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3765814	97821142	61317521	50	3018											
CADPS2	93664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	122130227	122130227	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatatgattgacctgtggccCtatacatggcttgaacccat	8	10	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:122130227C>G	ENST00000449022.2	-	11	1779	c.1760G>C	c.(1759-1761)aGg>aCg	p.R587T	CADPS2_ENST00000412584.2_Missense_Mutation_p.R587T|CADPS2_ENST00000313070.7_Missense_Mutation_p.R587T|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000334010.7_Missense_Mutation_p.R587T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	587	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACCTGTGGCCCTATACATGGC	0.403																																					p.R587T		.											.	CADPS2-94	0			c.G1760C						.						147	142	144					7																	122130227		1881	4117	5998	SO:0001583	missense	93664	exon11			GTGGCCCTATACA		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1760G>C	7.37:g.122130227C>G	ENSP00000398481:p.Arg587Thr	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	160	75	NM_001167940	0	0	12	23	11	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558442|3.558442	0.65538|0.65538	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.117334|.	0.56097|.	D|.	0.000032|.	T|.	0.77857|.	0.4193|.	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;B;D|.	0.76494|.	0.999;0.026;0.971|.	D;B;D|.	0.91635|.	0.999;0.014;0.987|.	T|.	0.78575|.	-0.2151|.	10|.	0.87932|.	D|.	0|.	-12.5156|-12.5156	18.6307|18.6307	0.91359|0.91359	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	587;587;587|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	T|Y	587;587;587;554;587;587|235	ENSP00000325581:R587T;ENSP00000333940:R587T;ENSP00000400401:R587T;ENSP00000398481:R587T|.	ENSP00000325581:R587T|.	R|X	-|-	2|3	0|2	CADPS2|CADPS2	121917463|121917463	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.967000|0.967000	0.64934|0.64934	7.718000|7.718000	0.84743|0.84743	2.389000|2.389000	0.81357|0.81357	0.491000|0.491000	0.48974|0.48974	AGG|TAG	.		0.403	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		G	122130227	C	G	122130227	3	3	13	1	0	0	0	0	1	0	0	0	2578	681	24	3	2254	3	CADPS2	7	122130227	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	24309085	122130227	37008436	51	3019											
PAXIP1	22976	bcgsc.ca;mdanderson.org	37	chr7	154760666	154760666	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgaaggtgtaaaacCgggtgctgctgctgctgctg	17	8	0	1	rs61752011	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr7:154760666C>A	ENST00000404141.1	-	7	1399	c.1245G>T	c.(1243-1245)ccG>ccT	p.P415P	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.P415P			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	415	Gln-rich.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTGTAAAACCGGGtgctgct	0.562																																					p.P415P		.											.	PAXIP1-228	0			c.G1245T						.						22	22	22					7																	154760666		1953	3819	5772	SO:0001819	synonymous_variant	22976	exon7			TAAAACCGGGTGC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1245G>T	7.37:g.154760666C>A		Somatic	43	1		WXS	Illumina GAIIx	Phase_I	69	30	NM_007349	0	0	0	1	1	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																			C|0.784;T|0.216		0.562	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		A	154760666	C	A	154760666	2	1	13	1	0	0	0	0	0	0	0	1	11526	639	23	2		2	PAXIP1	7	154760666	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	32630439	154760666	4377997	52	3020											
CRH	1392	hgsc.bcm.edu	37	chr8	67089425	67089425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcggctgccgctgccTccggcgaggagcgaggaggc	20	12	0	0	rs6159	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:67089425T>G	ENST00000276571.3	-	2	734	c.288A>C	c.(286-288)ggA>ggC	p.G96G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	96					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCCGCTGCCTCCGGCGAGGA	0.701											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1938	0.386981	0.7557	0.3646	5008	,	,		12753	0.3433		0.1392	False		,,,				2504	0.2045				p.G96G		.											.	CRH-90	0			c.A288C						.	G		1011,1897		182,647,625	2	3	3		288	-2.7	0	8	dbSNP_52	3	578,6556		47,484,3036	no	coding-synonymous	CRH	NM_000756.2		229,1131,3661	GG,GT,TT		8.102,34.7662,15.8235		96/197	67089425	1589,8453	1454	3567	5021	SO:0001819	synonymous_variant	1392	exon2			GCTGCCTCCGGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.288A>C	8.37:g.67089425T>G		Somatic	2	0	1096	WXS	Illumina GAIIx	Phase_I	15	14	NM_000756	0	0	0	0	0	B3KQS4	Silent	SNP	ENST00000276571.3	37	CCDS6188.1																																																																																			T|0.642;G|0.358		0.701	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		G	67089425	T	G	67089425	2	3	13	1	0	0	0	0	0	0	0	1	3876	1538	54	5		5	CRH	8	67089425	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		67089425	79274597	53	3021											
SULF1	23213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	70533313	70533314	+	Missense_Mutation	DNP	AC	AC	TT													atctggcaagcttcgaattcAcaagtgtaaaggacccagtg							TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A|	A|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:70533313_70533314AC>TT	ENST00000260128.4	+	14	2138_2139	c.1421_1422AC>TT	c.(1420-1422)cAC>cTT	p.H474L	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.H474L|SULF1_ENST00000458141.2_Missense_Mutation_p.H474L|SULF1_ENST00000419716.3_Missense_Mutation_p.H474L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	474					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTCGAATTCACAAGTGTAAAG	0.49																																					p.H474L|p.H474H		.											.	SULF1-518	0			c.A1421T|c.C1422T						.																																			SO:0001583	missense	23213	exon14			GAATTCACAAGTG|AATTCACAAGTGT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	Exception_encountered	8.37:g.70533313_70533314delinsTT	ENSP00000260128:p.His474Leu	Somatic	86|88	0|1		WXS	Illumina GAIIx	Phase_I	133|135	21|22	NM_001128205	0	0	0	0	0	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation|Silent	SNP	ENST00000260128.4	37	CCDS6204.1																																																																																			.		0.49	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		TT	70533314	AC	TT	70533313	3	4	13	1	0	0	0	0	1	0	0	0	15417	159	6	5	1459	5	SULF1	8	70533313	Missense_Mutation	DNP	AC	TCGA-OR-A5JF-01A-11D-A29I-10	3443888	70533313	75830709	54	3022											
EXT1	2131	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	118816990	118816990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctccttatactgctTcttctgggtcactttgattg	7	10	4	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:118816990T>C	ENST00000378204.2	-	10	2832	c.2026A>G	c.(2026-2028)Aag>Gag	p.K676E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	676					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTATACTGCTTCTTCTGGGTC	0.478			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.K676E		.	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	EXT1-660	0			c.A2026G						.						215	204	208					8																	118816990		2203	4300	6503	SO:0001583	missense	2131	exon10	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ACTGCTTCTTCTG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2026A>G	8.37:g.118816990T>C	ENSP00000367446:p.Lys676Glu	Somatic	195	2		WXS	Illumina GAIIx	Phase_I	358	76	NM_000127	0	0	98	124	26	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	t	32	5.168700	0.94768	.	.	ENSG00000182197	ENST00000378204	D	0.86497	-2.13	5.68	5.68	0.88126	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92635	0.6119	10	0.23302	T	0.38	-12.4169	15.9321	0.79672	0.0:0.0:0.0:1.0	.	676	Q16394	EXT1_HUMAN	E	676	ENSP00000367446:K676E	ENSP00000367446:K676E	K	-	1	0	EXT1	118886171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.160000	0.67779	0.477000	0.44152	AAG	.		0.478	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		C	118816990	T	C	118816990	3	2	13	1	0	0	0	0	1	0	0	0	5339	1792	62	4	222	4	EXT1	8	118816990	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	48283677	118816990	27547032	55	3023											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	14	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	13	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5JF-01A-11D-A29I-10	1403786	120220776	26143246	56	3024											
SHARPIN	81858	hgsc.bcm.edu	37	chr8	145158503	145158503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccggaagcgcccaggccGctcagggtccgcgctcagct	14	17	2	0	rs11136254	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:145158503G>T	ENST00000398712.2	-	1	590	c.154C>A	c.(154-156)Cgg>Agg	p.R52R	MAF1_ENST00000322428.5_5'Flank|SHARPIN_ENST00000533948.1_Intron|MAF1_ENST00000532522.1_5'Flank|MAF1_ENST00000534585.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	52	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGCCGCTCAGGGTCC	0.771													G|||	4431	0.884784	0.6884	0.9366	5008	,	,		10154	0.999		0.9115	False		,,,				2504	0.9683				p.R52R		.											.	SHARPIN-523	0			c.C154A						.	G		1990,374		815,360,7	2	2	2		154	2.7	0.6	8	dbSNP_120	2	5503,323		2593,317,3	no	coding-synonymous	SHARPIN	NM_030974.3		3408,677,10	TT,TG,GG		5.5441,15.8206,8.5104		52/388	145158503	7493,697	1182	2913	4095	SO:0001819	synonymous_variant	81858	exon1			CAGGCCGCTCAGG	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.154C>A	8.37:g.145158503G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_030974	0	0	0	43	43	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	CCDS43777.1																																																																																			G|0.108;T|0.892		0.771	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		T	145158503	G	T	145158503	2	4	13	1	0	0	0	0	0	0	0	1	14312	1086	38	2		2	SHARPIN	8	145158503	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	24937727	145158503	1205519	57	3025											
RECQL4	113655	hgsc.bcm.edu	37	chr8	145738764	145738764	+	IGR	DEL	A	A	-													aggccaccgtggccaccaccAcccggcaactggccctgcat							TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:145738764delA	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Frame_Shift_Del_p.V769fs	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCCACCACCACCCGGCAACT	0.687																																					p.V767fs		.											.	RECQL4-1083	0			c.2300delT						.						15	20	19					8																	145738764		2073	4204	6277	SO:0001628	intergenic_variant	9401	exon15			ACCACCACCCGGC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738764delA		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	255	0	NM_004260	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000301327.4	37	CCDS6431.1																																																																																			.		0.687	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		-	145738764	A	-	145738764	6	5	13	0	1	1	0	1	0	0	0	0	13247	146	6	0		0	RECQL4	8	145738764	IGR	DEL	A	TCGA-OR-A5JF-01A-11D-A29I-10	580261	145738764	625258	58	3026											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_213605	0	0	0	1	1		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	13	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	294583	146033347	330675	59	3027											
C9orf66	157983	hgsc.bcm.edu	37	chr9	214679	214679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaggtcggcggccccggGcagagcgcgccgtctgcccc	17	18	1	1	rs117856897	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:214679G>A	ENST00000382387.2	-	1	1214	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	240	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCCCCGGGCAGAGCGCGC	0.781													G|||	53	0.0105831	0	0	5008	,	,		10249	0.0496		0.001	False		,,,				2504	0.002				p.P240S		.											.	C9orf66-514	0			c.C718T						.						5	6	6					9																	214679		2051	3945	5996	SO:0001583	missense	157983	exon1			CCCCGGGCAGAGC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.718C>T	9.37:g.214679G>A	ENSP00000371824:p.Pro240Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	23	0.010531135531135532	0	0.0	0	0.0	23	0.04020979020979021	0	0.0	.	10.34	1.322106	0.23994	.	.	ENSG00000183784	ENST00000382387	T	0.20200	2.09	3.91	0.383	0.16239	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.24764	-1.0151	9	0.87932	D	0	.	10.834	0.46677	0.0:0.5905:0.4095:0.0	.	240	Q5T8R8	CI066_HUMAN	S	240	ENSP00000371824:P240S	ENSP00000371824:P240S	P	-	1	0	C9orf66	204679	0.000000	0.05858	0.092000	0.20876	0.739000	0.42172	-0.253000	0.08794	0.321000	0.23259	0.484000	0.47621	CCC	G|0.986;A|0.014		0.781	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		A	214679	G	A	214679	3	1	13	1	0	0	0	0	1	0	0	0	2497	1203	42	3	173	3	C9orf66	9	214679	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		214679	140998752	60	3028											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832928	5832928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccagaggctcctgcgctcGggcctccctctccggcggtg	13	18	1	1	rs13283149	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:5832928G>C	ENST00000339450.5	-	1	189	c.100C>G	c.(100-102)Cga>Gga	p.R34G	ERMP1_ENST00000214893.5_5'Flank|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	34						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)		TCCTGCGCTCGGGCCTCCCTC	0.761													G|||	55	0.0109824	0	0.0086	5008	,	,		10754	0		0.0159	False		,,,				2504	0.0337				p.R34G		.											.	ERMP1-69	0			c.C100G						.	G	GLY/ARG	10,3136		0,10,1563	4	5	4		100	-1.2	0.1	9	dbSNP_121	4	98,7004		0,98,3453	no	missense	ERMP1	NM_024896.2	125	0,108,5016	CC,CG,GG		1.3799,0.3179,1.0539	benign	34/905	5832928	108,10140	1573	3551	5124	SO:0001583	missense	79956	exon1			GCGCTCGGGCCTC	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.100C>G	9.37:g.5832928G>C	ENSP00000340427:p.Arg34Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	5	NM_024896	0	0	1	2	1	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	27	0.012362637362637362	7	0.014227642276422764	7	0.019337016574585635	0	0.0	13	0.017150395778364115	G	2.887	-0.230467	0.05983	0.003179	0.013799	ENSG00000099219	ENST00000339450	T	0.42513	0.97	3.94	-1.25	0.09405	.	2.895070	0.01605	N	0.022244	T	0.11281	0.0275	N	0.08118	0	0.20196	N	0.999921	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.08764	-1.0706	10	0.23302	T	0.38	3.6025	4.9111	0.13821	0.361:0.1662:0.4729:0.0	rs13283149	34;34	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	G	34	ENSP00000340427:R34G	ENSP00000340427:R34G	R	-	1	2	ERMP1	5822928	0.011000	0.17503	0.145000	0.22337	0.021000	0.10359	0.179000	0.16840	-0.098000	0.12285	0.313000	0.20887	CGA	G|0.987;C|0.013		0.761	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832928	G	C	5832928	3	2	13	1	0	0	0	0	1	0	0	0	5252	1124	39	2	2674	2	ERMP1	9	5832928	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	5618249	5832928	135380503	61	3029											
PRSS3	5646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	33797865	33797865	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggagagcacaacatcaaagTcctggaggggaatgagcagt	15	7	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:33797865T>A	ENST00000361005.5	+	3	410	c.410T>A	c.(409-411)gTc>gAc	p.V137D	PRSS3_ENST00000429677.3_Missense_Mutation_p.V73D|PRSS3_ENST00000379405.3_Missense_Mutation_p.V80D|PRSS3_ENST00000342836.4_Missense_Mutation_p.V94D|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AACATCAAAGTCCTGGAGGGG	0.552																																					p.V137D		.											.	PRSS3-90	0			c.T410A						.						169	145	153					9																	33797865		2203	4300	6503	SO:0001583	missense	5646	exon3			TCAAAGTCCTGGA		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.410T>A	9.37:g.33797865T>A	ENSP00000354280:p.Val137Asp	Somatic	294	0		WXS	Illumina GAIIx	Phase_I	481	199	NM_007343	0	0	0	0	0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083047	0.55861	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	3.62	2.4	0.29515	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.053950	0.64402	D	0.000001	T	0.80243	0.4587	N	0.10707	0.03	0.80722	D	1	P;P;P	0.45212	0.618;0.853;0.618	B;P;B	0.48227	0.241;0.571;0.241	T	0.78071	-0.2347	10	0.72032	D	0.01	.	7.3632	0.26758	0.196:0.0:0.0:0.804	.	80;137;94	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	D	137;92;94;73;80	ENSP00000354280:V137D;ENSP00000401249:V92D;ENSP00000340889:V94D;ENSP00000401828:V73D;ENSP00000368715:V80D	ENSP00000340889:V94D	V	+	2	0	PRSS3	33787865	0.031000	0.19500	0.008000	0.14137	0.056000	0.15407	1.699000	0.37804	0.359000	0.24239	0.260000	0.18958	GTC	.		0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797865	T	A	33797865	3	1	13	1	0	0	0	0	1	0	0	0	12664	1667	58	5	464	5	PRSS3	9	33797865	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	27964937	33797865	107415566	62	3030											
COL27A1	85301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	117053185	117053185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctggagcacagggaccCccaggattcaaggtcagata	11	11	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:117053185C>T	ENST00000356083.3	+	48	4855	c.4464C>T	c.(4462-4464)ccC>ccT	p.P1488P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1488	Collagen-like 14.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACAGGGACCCCCAGGATTCA	0.592											OREG0019416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1488P		.											.	COL27A1-94	0			c.C4464T						.						41	40	40					9																	117053185		2055	4066	6121	SO:0001819	synonymous_variant	85301	exon48			GGGACCCCCAGGA	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.4464C>T	9.37:g.117053185C>T		Somatic	231	1	1478	WXS	Illumina GAIIx	Phase_I	292	128	NM_032888	0	0	0	0	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			.		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117053185	C	T	117053185	2	4	13	1	0	0	0	0	0	0	0	1	3692	610	22	3		3	COL27A1	9	117053185	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	83255320	117053185	24160246	63	3031											
TLR4	7099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	120475205	120475205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagaatttagaaatgaaGgaaacttggaaaagtttgac	12	2	0	4			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:120475205G>A	ENST00000355622.6	+	3	900	c.799G>A	c.(799-801)Gga>Aga	p.G267R	TLR4_ENST00000394487.4_Missense_Mutation_p.G227R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	267					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TAGAAATGAAGGAAACTTGGA	0.353																																					p.G267R		.											.	TLR4-577	0			c.G799A						.						82	90	87					9																	120475205		2203	4299	6502	SO:0001583	missense	7099	exon3			AATGAAGGAAACT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.799G>A	9.37:g.120475205G>A	ENSP00000363089:p.Gly267Arg	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	68	18	NM_138554	0	0	0	1	1	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.818954	0.00595	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37752	1.48;1.18	5.78	3.4	0.38934	.	0.777104	0.12320	N	0.479383	T	0.06962	0.0177	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	10	0.10377	T	0.69	.	1.6556	0.02781	0.508:0.1314:0.2338:0.1269	.	267	O00206	TLR4_HUMAN	R	227;267	ENSP00000377997:G227R;ENSP00000363089:G267R	ENSP00000363089:G267R	G	+	1	0	TLR4	119515026	0.000000	0.05858	0.854000	0.33618	0.137000	0.21094	-0.109000	0.10840	1.008000	0.39264	-0.294000	0.09567	GGA	.		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		A	120475205	G	A	120475205	3	1	13	1	0	0	0	0	1	0	0	0	16000	1001	35	3	809	3	TLR4	9	120475205	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3422020	120475205	20738226	64	3032											
RPL12	6136	bcgsc.ca	37	chr9	130211601	130211601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggtggttccttgaggGctttgatgatcagggcagag	15	7	2	4	rs149234502		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:130211601G>T	ENST00000361436.5	-	4	338	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|RPL12_ENST00000536368.1_Missense_Mutation_p.A51D|RPL12_ENST00000497322.1_5'UTR|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000323301.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTCCTTGAGGGCTTTGATGAT	0.448																																					p.A84D		.											.	RPL12-90	0			c.C251A						.						88	76	80					9																	130211601		2203	4298	6501	SO:0001583	missense	6136	exon4			TTGAGGGCTTTGA		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.251C>A	9.37:g.130211601G>T	ENSP00000354739:p.Ala84Asp	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_000976	2	0	2309	2312	1	Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298339	0.95574	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	T;T	0.40756	1.02;1.02	4.98	4.98	0.66077	Ribosomal protein L11, N-terminal (1);Ribosomal protein L11, C-terminal (3);	0.000000	0.85682	U	0.000000	T	0.76758	0.4032	H	0.99705	4.715	0.80722	D	1	P;P	0.49090	0.919;0.667	P;P	0.54924	0.764;0.745	D	0.87585	0.2487	10	0.87932	D	0	-20.295	16.1444	0.81555	0.0:0.0:1.0:0.0	.	51;84	P30050-2;P30050	.;RL12_HUMAN	D	84;51	ENSP00000354739:A84D;ENSP00000441179:A51D	ENSP00000354739:A84D	A	-	2	0	RPL12	129251422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.597000	0.90847	2.473000	0.83533	0.561000	0.74099	GCC	G|1.000;C|0.000		0.448	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			T	130211601	G	T	130211601	3	4	13	1	0	0	0	0	1	0	0	0	13603	1203	42	3	262	3	RPL12	9	130211601	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	9736396	130211601	11001830	65	3033											
BAT2L1	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	134351358	134351358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcgcggaggacaagagatCcttcttccaagatgaacacg	11	12	1	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:134351358C>T	ENST00000357304.4	+	15	3897	c.3842C>T	c.(3841-3843)tCc>tTc	p.S1281F	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1281							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACAAGAGATCCTTCTTCCAA	0.582											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1281F		.											.	PRRC2B-24	0			c.C3842T						.						49	56	54					9																	134351358		1985	4152	6137	SO:0001583	missense	84726	exon15			AGAGATCCTTCTT	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3842C>T	9.37:g.134351358C>T	ENSP00000349856:p.Ser1281Phe	Somatic	52	0	1610	WXS	Illumina GAIIx	Phase_I	66	11	NM_013318	0	0	8	8	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197967	0.58126	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.02015	4.5	5.66	5.66	0.87406	.	.	.	.	.	T	0.04952	0.0133	L	0.47716	1.5	0.80722	D	1	P;P;P	0.49559	0.925;0.755;0.641	P;B;B	0.48141	0.568;0.444;0.259	T	0.32241	-0.9914	9	0.62326	D	0.03	.	14.2417	0.65961	0.1585:0.8415:0.0:0.0	.	577;14;1281	Q5H9R5;Q5JSZ8;Q5JSZ5	.;.;PRC2B_HUMAN	F	1281;577	ENSP00000349856:S1281F	ENSP00000349856:S1281F	S	+	2	0	PRRC2B	133341179	0.996000	0.38824	0.993000	0.49108	0.971000	0.66376	1.294000	0.33365	2.675000	0.91044	0.655000	0.94253	TCC	.		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	134351358	C	T	134351358	3	4	13	1	0	0	0	0	1	0	0	0	1321	855	30	3	3900	3	BAT2L1	9	134351358	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	4139757	134351358	6862073	66	3034											
CEL	1056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	135947102	135947102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctgcccctgtgccccCcacagatgactccaaggaag	11	15	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:135947102C>T	ENST00000372080.4	+	11	2238	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	CEL_ENST00000351304.7_Missense_Mutation_p.P672L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	738	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				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)		CCTGTGCCCCCCACAGATGAC	0.667																																					p.P741L		.											.	CEL-91	0			c.C2222T						.						18	21	20					9																	135947102		1846	4086	5932	SO:0001583	missense	1056	exon11			TGCCCCCCACAGA	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.2222C>T	9.37:g.135947102C>T	ENSP00000361151:p.Pro741Leu	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	107	42	NM_001807	0	0	0	0	0	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.058421	0.55325	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.73575	-0.56;-0.76	2.58	2.58	0.30949	.	.	.	.	.	T	0.63165	0.2488	L	0.29908	0.895	0.28791	N	0.899318	B	0.17038	0.02	B	0.12156	0.007	T	0.62186	-0.6907	9	0.87932	D	0	.	11.3773	0.49735	0.0:1.0:0.0:0.0	.	738	P19835	CEL_HUMAN	L	741;672;707	ENSP00000361151:P741L;ENSP00000342217:P672L	ENSP00000304021:P707L	P	+	2	0	CEL	134936923	0.036000	0.19791	0.004000	0.12327	0.173000	0.22820	2.750000	0.47500	1.786000	0.52430	0.454000	0.30748	CCC	.		0.667	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			T	135947102	C	T	135947102	3	4	13	1	0	0	0	0	1	0	0	0	3216	623	22	3	2264	3	CEL	9	135947102	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1595744	135947102	5266329	67	3035											
ABO	28	bcgsc.ca	37	chr9	136131415	136131415	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgcttccgtagaagcCggggtgcagggtgccgaaca	16	12	0	1	rs8176743	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:136131415C>T	ENST00000453660.2	-	0	713				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CCGTAGAAGCCGGGGTGCAGG	0.657													C|||	766	0.152955	0.1694	0.0476	5008	,	,		15910	0.1944		0.0845	False		,,,				2504	0.2331				.		.											.	ABO-90	0			.						.	C	SER/GLY	647,3471		52,543,1464	21	26	24	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	702	2.5	0	9	dbSNP_117	24	603,7749		27,549,3600	no	missense	ABO	NM_020469.2	56	79,1092,5064	TT,TC,CC		7.2198,15.7115,10.0241	possibly-damaging	235/355	136131415	1250,11220	2059	4176	6235			28	.			AGAAGCCGGGGTG	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131415C>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	91	5	.	0	0	7	7	0	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																				C|0.861;T|0.139		0.657	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		T	136131415	C	T	136131415	1	4	13	0	1	0	0	0	0	0	0	0	97	652	23	1		1	ABO	9	136131415	RNA	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	184313	136131415	5082016	68	3036											
RXRA	6256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	137325961	137325961	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttcagactccaaggggctCtcgaacccggccgaggtgga	13	13	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:137325961C>G	ENST00000481739.1	+	9	1201	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	RXRA_ENST00000540193.1_Silent_p.L286L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	383	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|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)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCAAGGGGCTCTCGAACCCGG	0.642																																					p.L383L		.											.	RXRA-188	0			c.C1149G						.						50	53	52					9																	137325961		2203	4300	6503	SO:0001819	synonymous_variant	6256	exon9			GGGGCTCTCGAAC	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1149C>G	9.37:g.137325961C>G		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	74	24	NM_002957	0	0	0	1	1	B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	CCDS35172.1																																																																																			.		0.642	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		G	137325961	C	G	137325961	2	3	13	1	0	0	0	0	0	0	0	1	13808	900	32	3		3	RXRA	9	137325961	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1194546	137325961	3887470	69	3037											
GPSM1	26086	hgsc.bcm.edu	37	chr9	139252666	139252666	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagtgccagcctggtgcGagctaaggccctgtgcccac	13	15	0	0	rs200980257	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:139252666G>A	ENST00000440944.1	+	14	2242	c.2022G>A	c.(2020-2022)gcG>gcA	p.A674A	GPSM1_ENST00000429455.1_Silent_p.A165A|GPSM1_ENST00000392944.1_Silent_p.A165A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	674					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		AGCCTGGTGCGAGCTAAGGCC	0.736													G|||	7	0.00139776	0	0	5008	,	,		12973	0.0069		0	False		,,,				2504	0				p.A674A		.											.	GPSM1-90	0			c.G2022A						.						5	6	6					9																	139252666		2016	3973	5989	SO:0001819	synonymous_variant	26086	exon14			TGGTGCGAGCTAA	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.2022G>A	9.37:g.139252666G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_001145638	0	0	3	6	3	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	CCDS48055.1																																																																																			G|0.998;A|0.002		0.736	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		A	139252666	G	A	139252666	2	1	13	1	0	0	0	0	0	0	0	1	6761	1045	37	1		1	GPSM1	9	139252666	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	1926705	139252666	1960765	70	3038											
TRAF2	7186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139818401	139818401	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtccctcttctttgtGgtgatgaagggcccgaatga	11	11	2	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr9:139818401G>C	ENST00000247668.2	+	10	1288	c.1236G>C	c.(1234-1236)gtG>gtC	p.V412V	TRAF2_ENST00000359662.3_Silent_p.V464V|TRAF2_ENST00000536468.1_Silent_p.V412V	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	412	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCTTCTTTGTGGTGATGAAGG	0.622																																					p.V412V		.											.	TRAF2-660	0			c.G1236C						.						103	84	90					9																	139818401		2203	4300	6503	SO:0001819	synonymous_variant	7186	exon10			CTTTGTGGTGATG	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1236G>C	9.37:g.139818401G>C		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	187	79	NM_021138	0	0	11	16	5	A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	CCDS7013.1																																																																																			.		0.622	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		C	139818401	G	C	139818401	2	2	13	1	0	0	0	0	0	0	0	1	16486	1335	47	3		3	TRAF2	9	139818401	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	565735	139818401	1395030	71	3039											
ANK3	288	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	61819102	61819102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaaacagccatacctgtCatccagtcgatctagtaacc	6	12	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:61819102C>T	ENST00000280772.2	-	41	12873	c.12682G>A	c.(12682-12684)Gac>Aac	p.D4228N	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.D1719N|ANK3_ENST00000355288.2_Missense_Mutation_p.D852N|ANK3_ENST00000373827.2_Missense_Mutation_p.D1712N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4228					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						CCATACCTGTCATCCAGTCGA	0.393																																					p.D4228N		.											.	ANK3-107	0			c.G12682A						.						170	153	159					10																	61819102		2203	4300	6503	SO:0001583	missense	288	exon41			ACCTGTCATCCAG	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.12682G>A	10.37:g.61819102C>T	ENSP00000280772:p.Asp4228Asn	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	71	34	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942890	0.53079	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T	0.71934	-0.26;-0.61;0.45;0.16;-0.61	5.56	4.65	0.58169	.	0.000000	0.37857	U	0.001912	T	0.68165	0.2971	N	0.17082	0.46	0.80722	D	1	B;B;B;D;B;B;B	0.55605	0.012;0.001;0.001;0.972;0.001;0.001;0.073	B;B;B;P;B;B;B	0.57911	0.005;0.001;0.001;0.829;0.002;0.001;0.027	T	0.67662	-0.5613	10	0.34782	T	0.22	.	14.8163	0.70036	0.0:0.9294:0.0:0.0706	.	1719;852;1712;4228;953;852;251	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	N	4228;1712;310;852;1719;1698;953	ENSP00000280772:D4228N;ENSP00000362933:D1712N;ENSP00000362926:D310N;ENSP00000347436:D852N;ENSP00000425236:D1719N	ENSP00000280772:D4228N	D	-	1	0	ANK3	61489108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.120000	0.50430	2.623000	0.88846	0.455000	0.32223	GAC	.		0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61819102	C	T	61819102	3	4	13	1	0	0	0	0	1	0	0	0	622	826	29	3	463	3	ANK3	10	61819102	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		61819102	73715645	72	3040											
DDX50	79009	broad.mit.edu	37	chr10	70666540	70666540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaaatggtgttacagAtgacctggatgctcccaagg	12	7	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:70666540A>G	ENST00000373585.3	+	2	268	c.161A>G	c.(160-162)gAt>gGt	p.D54G		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	54						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GGTGTTACAGATGACCTGGAT	0.383																																					p.D54G		.											.	DDX50-91	0			c.A161G						.						81	80	80					10																	70666540		2203	4300	6503	SO:0001583	missense	79009	exon2			TTACAGATGACCT	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.161A>G	10.37:g.70666540A>G	ENSP00000362687:p.Asp54Gly	Somatic	338	1		WXS	Illumina GAIIx	Phase_I	355	7	NM_024045	0	0	11	11	0	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441518	0.43326	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.03	5.03	0.67393	.	0.798753	0.11754	N	0.532787	T	0.13457	0.0326	N	0.19112	0.55	0.34356	D	0.690364	P;P	0.38767	0.646;0.646	B;B	0.31101	0.091;0.124	T	0.18745	-1.0327	10	0.56958	D	0.05	-10.543	11.4287	0.50027	1.0:0.0:0.0:0.0	.	54;54	Q9BQ39;B4DED6	DDX50_HUMAN;.	G	54	ENSP00000362687:D54G	ENSP00000362687:D54G	D	+	2	0	DDX50	70336546	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.003000	0.49505	2.011000	0.59026	0.533000	0.62120	GAT	.		0.383	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		G	70666540	A	G	70666540	3	3	13	1	0	0	0	0	1	0	0	0	4377	333	12	4	167	4	DDX50	10	70666540	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	8847438	70666540	64868207	73	3041											
ADAMTS14	140766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	72489935	72489935	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacactcccagcagcgCcaggaccccagccacgctga	11	18	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:72489935C>G	ENST00000373207.1	+	6	1032	c.1032C>G	c.(1030-1032)cgC>cgG	p.R344R	ADAMTS14_ENST00000373208.1_Silent_p.R344R	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	344	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCAGCAGCGCCAGGACCCCA	0.647																																					p.R344R		.											.	ADAMTS14-232	0			c.C1032G						.						78	69	72					10																	72489935		2203	4300	6503	SO:0001819	synonymous_variant	140766	exon6			GCAGCGCCAGGAC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1032C>G	10.37:g.72489935C>G		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	141	75	NM_080722	0	0	0	0	0	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																			.		0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		G	72489935	C	G	72489935	2	3	13	1	0	0	0	0	0	0	0	1	259	726	26	3		3	ADAMTS14	10	72489935	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1823395	72489935	63044812	74	3042											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_001077494	0	0	0	1	1	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	13	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	31669261	104159196	31375551	75	3043											
SMC3	9126	broad.mit.edu	37	chr10	112356159	112356159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgttttgtttataggtgAccaagtcagccatcggggtg	12	6	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:112356159A>G	ENST00000361804.4	+	19	2093	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	656	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)		TTTATAGGTGACCAAGTCAGC	0.343																																					p.D656G		.											.	SMC3-92	0			c.A1967G						.						93	94	94					10																	112356159		2203	4300	6503	SO:0001583	missense	9126	exon19			TAGGTGACCAAGT	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.1967A>G	10.37:g.112356159A>G	ENSP00000354720:p.Asp656Gly	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	32	5	NM_005445	0	0	0	0	0	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259869	0.59321	.	.	ENSG00000108055	ENST00000361804	D	0.88431	-2.38	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95847	0.8648	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96956	0.9698	10	0.87932	D	0	.	15.3105	0.74028	1.0:0.0:0.0:0.0	.	656	Q9UQE7	SMC3_HUMAN	G	656	ENSP00000354720:D656G	ENSP00000354720:D656G	D	+	2	0	SMC3	112346149	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	8.864000	0.92294	2.014000	0.59158	0.260000	0.18958	GAC	.		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		G	112356159	A	G	112356159	3	3	13	1	0	0	0	0	1	0	0	0	14829	275	10	4	2041	4	SMC3	10	112356159	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	8196963	112356159	23178588	76	3044											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012429	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgatcccacctggagTtgcttccgggggcctcaggc	14	14	1	1	rs386749477|rs3008390	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr10:135012429T>A	ENST00000304613.3	+	14	2438	c.2417T>A	c.(2416-2418)gTt>gAt	p.V806D	KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D|KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGG	0.746													T|||	2004	0.40016	0.1604	0.3919	5008	,	,		10760	0.5476		0.4195	False		,,,				2504	0.5583				p.V806D		.											.	KNDC1-229	0			c.T2417A						.		ASP/VAL	526,2634		71,384,1125	4	5	4		2417	-1.3	0	10	dbSNP_101	4	2723,4467		626,1471,1498	yes	missense	KNDC1	NM_152643.6	152	697,1855,2623	AA,AT,TT		37.872,16.6456,31.3913	benign	806/1750	135012429	3249,7101	1580	3595	5175	SO:0001583	missense	85442	exon14			CTGGAGTTGCTTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2417T>A	10.37:g.135012429T>A	ENSP00000304437:p.Val806Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	884	0.40476190476190477	86	0.17479674796747968	139	0.3839779005524862	333	0.5821678321678322	326	0.43007915567282323	T	4.682	0.126733	0.08931	0.166456	0.37872	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18174	2.82;2.82;2.23	3.43	-1.31	0.09230	.	1.661170	0.03733	N	0.253684	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P;P;B	0.45827	0.867;0.531;0.244	B;B;B	0.41271	0.352;0.107;0.05	T	0.45614	-0.9249	9	0.12103	T	0.63	.	3.9153	0.09220	0.0:0.3422:0.3942:0.2636	rs3008390;rs61587518	806;741;806	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	D	806;806;741	ENSP00000304437:V806D;ENSP00000357561:V806D;ENSP00000357560:V741D	ENSP00000304437:V806D	V	+	2	0	KNDC1	134862419	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.817000	0.27281	-0.241000	0.09681	0.255000	0.18592	GTT	T|0.406;A|0.594		0.746	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135012429	T	A	135012429	3	1	13	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	22656270	135012429	522318	77	3045											
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381905.3_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	18	14	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	13	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		1858572	133147944	78	3046											
SERPING1	710	ucsc.edu;bcgsc.ca	37	chr11	57373627	57373627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaacaagatcagccggcTgctagacagtctgccctccg	9	15	2	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:57373627T>G	ENST00000278407.4	+	5	1057	c.830T>G	c.(829-831)cTg>cGg	p.L277R	SERPING1_ENST00000378324.2_Missense_Mutation_p.L225R|SERPING1_ENST00000340687.6_Missense_Mutation_p.L277R|SERPING1_ENST00000378323.4_Missense_Mutation_p.L282R|SERPING1_ENST00000403558.1_Missense_Mutation_p.L311R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	277					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATCAGCCGGCTGCTAGACAGT	0.547																																					p.L277R		.											.	SERPING1-650	0			c.T830G						.						208	193	198					11																	57373627		2201	4296	6497	SO:0001583	missense	710	exon4			GCCGGCTGCTAGA	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.830T>G	11.37:g.57373627T>G	ENSP00000278407:p.Leu277Arg	Somatic	220	3		WXS	Illumina GAIIx	Phase_I	192	141	NM_001032295	0	0	78	80	2	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907229	0.52333	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	4.99	4.99	0.66335	Serpin domain (3);	0.084740	0.48767	D	0.000166	D	0.94288	0.8165	M	0.91920	3.255	0.49915	D	0.99983	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	0.95139	0.8262	10	0.87932	D	0	.	12.1984	0.54311	0.0:0.0:0.0:1.0	.	282;311;277;277	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	277;277;282;225;311	ENSP00000278407:L277R;ENSP00000341861:L277R;ENSP00000367574:L282R;ENSP00000367575:L225R;ENSP00000384420:L311R	ENSP00000278407:L277R	L	+	2	0	SERPING1	57130203	1.000000	0.71417	0.938000	0.37757	0.280000	0.26924	5.162000	0.64942	1.891000	0.54761	0.459000	0.35465	CTG	.		0.547	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		G	57373627	T	G	57373627	3	3	13	1	0	0	0	0	1	0	0	0	14161	1580	55	5	844	5	SERPING1	11	57373627	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	55515055	57373627	77632889	79	3047											
BEST1	7439	broad.mit.edu	37	chr11	61730553	61730553	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggatcctagggaagtgtTcgggaccttttctcacttca	11	10	2	0	rs17185413	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:61730553T>C	ENST00000378043.4	+	10	2382				BEST1_ENST00000378042.3_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.S271P|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.S583P|FTH1_ENST00000529191.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGGGAAGTGTTCGGGACCTTT	0.537													T|||	523	0.104433	0.0151	0.1268	5008	,	,		21309	0.002		0.2247	False		,,,				2504	0.1912				p.S583P		.											.	BEST1-90	0			c.T1747C						.	T	PRO/SER,	73,1311		1,71,620	52	45	47		1747,	-2.9	0	11	dbSNP_123	47	798,2384		102,594,895	yes	missense,intron	BEST1	NM_001139443.1,NM_004183.3	74,	103,665,1515	CC,CT,TT		25.0786,5.2746,19.0758	,	583/605,	61730553	871,3695	692	1591	2283	SO:0001627	intron_variant	7439	exon9			AAGTGTTCGGGAC	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+188T>C	11.37:g.61730553T>C		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	145	5	NM_001139443	0	0	0	0	0	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	230	0.10531135531135531	9	0.018292682926829267	60	0.16574585635359115	0	0.0	161	0.21240105540897097	T	17.59	3.427298	0.62733	0.052746	0.250786	ENSG00000167995	ENST00000301774;ENST00000449131	T;D	0.97209	-0.36;-4.29	4.35	-2.91	0.05631	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.50448	-0.8827	7	.	.	.	.	2.0384	0.03545	0.1365:0.3758:0.2746:0.2131	rs17185413	583	O76090-3	.	P	271;583	ENSP00000301774:S271P;ENSP00000399709:S583P	.	S	+	1	0	BEST1	61487129	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.347000	0.07750	-0.344000	0.08338	0.459000	0.35465	TCG	T|0.906;C|0.094		0.537	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61730553	T	C	61730553	1	2	13	0	1	0	0	0	0	0	0	0	1405	1783	62	4		4	BEST1	11	61730553	Intron	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	4356926	61730553	73275963	80	3048											
BSCL2	26580	broad.mit.edu;bcgsc.ca	37	chr11	62472840	62472840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagtagaaggagccatAgaggaagacagacacccaga	13	7	0	5			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:62472840A>G	ENST00000403550.1	-	2	568	c.145T>C	c.(145-147)Tat>Cat	p.Y49H	BSCL2_ENST00000405837.1_Missense_Mutation_p.Y113H|BSCL2_ENST00000433053.1_Missense_Mutation_p.Y113H|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000278893.7_Missense_Mutation_p.Y49H|BSCL2_ENST00000421906.1_Missense_Mutation_p.Y49H|BSCL2_ENST00000407022.3_Missense_Mutation_p.Y49H|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.Y113H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	49					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)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGAGCCATAGAGGAAGACA	0.552																																					p.Y113H		.											.	BSCL2-514	0			c.T337C						.						53	48	50					11																	62472840		2202	4299	6501	SO:0001583	missense	26580	exon2			AGCCATAGAGGAA		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.145T>C	11.37:g.62472840A>G	ENSP00000385561:p.Tyr49His	Somatic	320	1		WXS	Illumina GAIIx	Phase_I	238	14	NM_001122955	0	0	60	61	1	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619815	0.87460	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818	D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000004	D	0.95928	0.8674	M	0.89601	3.045	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.96550	0.9407	10	0.72032	D	0.01	-18.6787	13.6882	0.62529	1.0:0.0:0.0:0.0	.	49;49;113;49	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	H	113;113;49;113;49;49;49;49;113;49;113	ENSP00000385332:Y113H;ENSP00000414002:Y113H;ENSP00000278893:Y49H;ENSP00000354032:Y113H;ENSP00000385561:Y49H;ENSP00000384080:Y49H;ENSP00000413209:Y49H;ENSP00000413340:Y49H;ENSP00000433888:Y113H;ENSP00000434149:Y49H	ENSP00000278893:Y49H	Y	-	1	0	BSCL2	62229416	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.900000	0.87376	2.135000	0.66039	0.379000	0.24179	TAT	.		0.552	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		G	62472840	A	G	62472840	3	3	13	1	0	0	0	0	1	0	0	0	1531	420	15	4	1091	4	BSCL2	11	62472840	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	742287	62472840	72533676	81	3049											
PITPNM1	9600	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	67262351	67262351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcgttttcgctgccacTtctccctggggaaggccggg	15	13	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:67262351T>C	ENST00000534749.1	-	17	2896	c.2708A>G	c.(2707-2709)aAg>aGg	p.K903R	PITPNM1_ENST00000356404.3_Missense_Mutation_p.K903R|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.K902R			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	903					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCGCTGCCACTTCTCCCTGGG	0.692																																					p.K903R	GBM(28;144 709 4607 5525)	.											.	PITPNM1-227	0			c.A2708G						.						108	99	102					11																	67262351		2200	4295	6495	SO:0001583	missense	9600	exon18			TGCCACTTCTCCC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2708A>G	11.37:g.67262351T>C	ENSP00000437286:p.Lys903Arg	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	93	6	NM_004910	0	0	3	3	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958238	0.53400	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.52295	0.67;0.67;0.67	4.28	1.89	0.25635	.	0.230468	0.29653	N	0.011556	T	0.39572	0.1083	L	0.58810	1.83	0.42771	D	0.993834	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.26467	-1.0102	10	0.42905	T	0.14	-23.9423	7.6533	0.28360	0.0:0.1862:0.0:0.8138	.	902;903	O00562-2;O00562	.;PITM1_HUMAN	R	903;902;903	ENSP00000437286:K903R;ENSP00000398787:K902R;ENSP00000348772:K903R	ENSP00000348772:K903R	K	-	2	0	PITPNM1	67018927	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.836000	0.62789	0.611000	0.30052	0.260000	0.18958	AAG	.		0.692	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		C	67262351	T	C	67262351	3	2	13	1	0	0	0	0	1	0	0	0	11989	1609	56	4	1054	4	PITPNM1	11	67262351	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	4789511	67262351	67744165	82	3050											
FGF4	2249	hgsc.bcm.edu	37	chr11	69589556	69589556	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgccgatgcggccgtcgggGagcgcctggaggtggaagcc	19	13	0	0	rs11600280	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:69589556G>A	ENST00000168712.1	-	1	615	c.297C>T	c.(295-297)ctC>ctT	p.L99L	FGF4_ENST00000538040.1_5'UTR|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	99					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGCCGTCGGGGAGCGCCTGGA	0.776													G|||	145	0.0289537	8e-04	0.0548	5008	,	,		8358	0		0.0865	False		,,,				2504	0.0194				p.L99L		.											.	FGF4-1270	0			c.C297T						.	G		45,3935		0,45,1945	4	4	4		297	-0.8	1	11	dbSNP_120	4	419,7473		7,405,3534	no	coding-synonymous	FGF4	NM_002007.2		7,450,5479	AA,AG,GG		5.3092,1.1307,3.9084		99/207	69589556	464,11408	1990	3946	5936	SO:0001819	synonymous_variant	2249	exon1			GTCGGGGAGCGCC	M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.297C>T	11.37:g.69589556G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_002007	0	0	0	0	0	B7U994	Silent	SNP	ENST00000168712.1	37	CCDS8194.1																																																																																			G|0.967;A|0.033		0.776	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		A	69589556	G	A	69589556	2	1	13	1	0	0	0	0	0	0	0	1	5876	1161	41	3		3	FGF4	11	69589556	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	2327205	69589556	65416960	83	3051											
H2AFX	3014	broad.mit.edu	37	chr11	118965789	118965789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgggcaggacgcctcCctgggcgatcgtcacgccgc	15	14	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr11:118965789C>T	ENST00000530167.1	-	1	388	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	106					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		AGGACGCCTCCCTGGGCGATC	0.682								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G106R		.											.	H2AFX-651	0			c.G316A						.						85	86	85					11																	118965789		2200	4294	6494	SO:0001583	missense	3014	exon1			CGCCTCCCTGGGC	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.316G>A	11.37:g.118965789C>T	ENSP00000434024:p.Gly106Arg	Somatic	107	0	1492	WXS	Illumina GAIIx	Phase_I	213	6	NM_002105	0	0	29	29	0	Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385604	0.95967	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.95103	-3.61;-3.61	5.92	5.92	0.95590	Histone-fold (2);Histone H2A (2);	0.000000	0.64402	D	0.000009	D	0.97794	0.9276	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98128	1.0429	10	0.87932	D	0	.	19.2987	0.94134	0.0:1.0:0.0:0.0	.	106	P16104	H2AX_HUMAN	R	106	ENSP00000434024:G106R;ENSP00000364310:G106R	ENSP00000364310:G106R	G	-	1	0	H2AFX	118470999	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.597000	0.82733	2.809000	0.96659	0.655000	0.94253	GGA	.		0.682	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		T	118965789	C	T	118965789	3	4	13	1	0	0	0	0	1	0	0	0	6955	632	22	3	119	3	H2AFX	11	118965789	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	49376233	118965789	16040727	84	3052											
PARP11	57097	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	3921573	3921573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctttgcagaaacgacTggaataagcagcatctctag	9	9	3	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:3921573T>C	ENST00000228820.4	-	8	877	c.733A>G	c.(733-735)Agt>Ggt	p.S245G	PARP11_ENST00000476985.1_Intron|PARP11_ENST00000427057.2_Missense_Mutation_p.S164G|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000447133.3_Missense_Mutation_p.S164G	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	238	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CAGAAACGACTGGAATAAGCA	0.363																																					p.S245G		.											.	PARP11-523	0			c.A733G						.						78	75	76					12																	3921573		2203	4300	6503	SO:0001583	missense	57097	exon8			AACGACTGGAATA	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.733A>G	12.37:g.3921573T>C	ENSP00000228820:p.Ser245Gly	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	82	40	NM_020367	0	0	9	16	7	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393570	0.62066	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.14516	2.5;2.5;2.5	5.95	5.95	0.96441	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.45581	1.43	0.58432	D	0.999997	P;D;D	0.69078	0.917;0.996;0.997	P;D;D	0.77004	0.503;0.98;0.989	T	0.01053	-1.1467	10	0.30078	T	0.28	.	14.3843	0.66934	0.0:0.0:0.0:1.0	.	164;245;238	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	G	164;245;164	ENSP00000397058:S164G;ENSP00000228820:S245G;ENSP00000405385:S164G	ENSP00000228820:S245G	S	-	1	0	PARP11	3791834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.281000	0.76405	0.528000	0.53228	AGT	.		0.363	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			C	3921573	T	C	3921573	3	2	13	1	0	0	0	0	1	0	0	0	11495	1580	55	4	287	4	PARP11	12	3921573	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		3921573	129930322	85	3053											
ATN1	1822	ucsc.edu	37	chr12	7045906	7045906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaGcagcagcagcagcagcagca	12	14	0	0	rs377147612		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:7045906G>A	ENST00000356654.4	+	5	1713	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	ATN1_ENST00000396684.2_Silent_p.Q492Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	492	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.647																																					p.Q492Q		.											.	ATN1-139	0			c.G1476A						.						43	53	49					12																	7045906		2188	4263	6451	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1476G>A	12.37:g.7045906G>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	153	14	NM_001007026	0	0	372	373	1	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.		0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045906	G	A	7045906	2	1	13	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045906	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3124333	7045906	126805989	86	3054			1	7		2	2	19	G		9.244746e-05
ATN1	1822	hgsc.bcm.edu	37	chr12	7045924	7045924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcatcacgg	13	14	1	0	rs199988271		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:7045924G>T	ENST00000356654.4	+	5	1731	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q498H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	498	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.637																																					p.Q498H		.											.	ATN1-139	0			c.G1494T						.						43	53	49					12																	7045924		2201	4297	6498	SO:0001583	missense	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1494G>T	12.37:g.7045924G>T	ENSP00000349076:p.Gln498His	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	141	8	NM_001007026	0	0	232	232	0	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.273578	0.00257	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	1.44	-2.88	0.05682	.	.	.	.	.	T	0.24392	0.0591	N	0.22421	0.69	0.09310	N	1	P	0.40970	0.734	B	0.30401	0.115	T	0.19353	-1.0308	9	0.17832	T	0.49	.	3.3676	0.07208	0.2981:0.2446:0.4573:0.0	.	498	P54259	ATN1_HUMAN	H	498;498;498;83	ENSP00000349076:Q498H;ENSP00000379915:Q498H;ENSP00000441744:Q498H	ENSP00000229279:Q83H	Q	+	3	2	ATN1	6916185	0.175000	0.23083	0.269000	0.24586	0.334000	0.28698	-0.489000	0.06490	-0.760000	0.04677	0.109000	0.15622	CAG	G|0.999;A|0.001		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045924	G	T	7045924	3	4	13	1	0	0	0	0	1	0	0	0	1112	962	34	3	1508	3	ATN1	12	7045924	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	18	7045924	126805971	87	3055			1	7		2	2	19	G		9.244746e-05
CLEC1A	51267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	10223960	10223960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgcctaatgtttcagggGggacatggaggctctctggc	14	10	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:10223960G>T	ENST00000315330.4	-	6	877	c.815C>A	c.(814-816)cCc>cAc	p.P272H	CLEC1A_ENST00000457018.2_Missense_Mutation_p.P239H|CLEC1A_ENST00000420265.2_Missense_Mutation_p.P180H	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	272					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TGTTTCAGGGGGGACATGGAG	0.507																																					p.P272H		.											.	CLEC1A-91	0			c.C815A						.						157	141	146					12																	10223960		2203	4300	6503	SO:0001583	missense	51267	exon6			TCAGGGGGGACAT	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.815C>A	12.37:g.10223960G>T	ENSP00000326407:p.Pro272His	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	157	69	NM_016511	0	0	3	3	0	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732243	0.30684	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.01505	4.91;4.91;4.82	4.8	-6.63	0.01807	.	4.133730	0.00766	N	0.001162	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	P;P;P	0.36438	0.553;0.553;0.553	B;B;B	0.34824	0.19;0.19;0.125	T	0.40757	-0.9546	10	0.52906	T	0.07	.	6.2335	0.20750	0.2935:0.3572:0.3494:0.0	.	180;239;272	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	H	272;239;180	ENSP00000326407:P272H;ENSP00000415048:P239H;ENSP00000417010:P180H	ENSP00000326407:P272H	P	-	2	0	CLEC1A	10115227	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.271000	0.01166	-1.277000	0.02411	-0.440000	0.05779	CCC	.		0.507	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		T	10223960	G	T	10223960	3	4	13	1	0	0	0	0	1	0	0	0	3512	1232	43	3	31	3	CLEC1A	12	10223960	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3178036	10223960	123627935	88	3056											
KIAA1467	57613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	13232844	13232844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggtgggcactaatggaGggccagatggctcagctaca	14	10	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:13232844G>A	ENST00000197268.8	+	12	1884	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	588						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CACTAATGGAGGGCCAGATGG	0.542																																					p.E588E		.											.	KIAA1467-92	0			c.G1764A						.						71	68	69					12																	13232844		2203	4300	6503	SO:0001819	synonymous_variant	57613	exon12			AATGGAGGGCCAG	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1764G>A	12.37:g.13232844G>A		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	251	122	NM_020853	0	0	2	6	4	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	CCDS31750.1																																																																																			.		0.542	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		A	13232844	G	A	13232844	2	1	13	1	0	0	0	0	0	0	0	1	8262	991	35	3		3	KIAA1467	12	13232844	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3008884	13232844	120619051	89	3057											
HDAC7	51564	ucsc.edu;bcgsc.ca	37	chr12	48181875	48181875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagttgccgtcgtcatggcGatgcagggagatgtagagca	16	7	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:48181875G>A	ENST00000427332.2	-	20	2347	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	HDAC7_ENST00000354334.3_Missense_Mutation_p.R733C|HDAC7_ENST00000080059.7_Missense_Mutation_p.R770C|HDAC7_ENST00000552960.1_Missense_Mutation_p.R753C|HDAC7_ENST00000380610.4_Missense_Mutation_p.R787C|HDAC7_ENST00000488927.1_5'Flank			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	731	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TCGTCATGGCGATGCAGGGAG	0.592																																					p.R770C		.											.	HDAC7-289	0			c.C2308T						.						226	168	188					12																	48181875		2203	4300	6503	SO:0001583	missense	51564	exon20			CATGGCGATGCAG	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2191C>T	12.37:g.48181875G>A	ENSP00000404394:p.Arg731Cys	Somatic	357	3		WXS	Illumina GAIIx	Phase_I	525	198	NM_015401	0	0	25	53	28	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	G	31	5.097640	0.94197	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.97110	0.917;0.873;1.0	D	0.91328	0.5087	10	0.87932	D	0	.	17.3928	0.87437	0.0:0.0:1.0:0.0	.	770;753;733	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	C	770;733;753;787;731	ENSP00000080059:R770C;ENSP00000351326:R733C;ENSP00000448532:R753C;ENSP00000369984:R787C;ENSP00000404394:R731C	ENSP00000080059:R770C	R	-	1	0	HDAC7	46468142	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.807000	0.99171	2.522000	0.85027	0.555000	0.69702	CGC	.		0.592	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			A	48181875	G	A	48181875	3	1	13	1	0	0	0	0	1	0	0	0	7039	1058	37	1	695	1	HDAC7	12	48181875	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	34949031	48181875	85670020	90	3058											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_152435	0	0	0	2	2	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	13	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	48155308	96337183	37514712	91	3059											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	28	NM_152435	0	0	0	2	2	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	13	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	42	96337225	37514670	92	3060											
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	110226237	110226237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcttgctctccttggAgacctggcccactgtctcgc	11	14	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:110226237A>G	ENST00000418703.2	-	12	2270	c.2176T>C	c.(2176-2178)Tcc>Ccc	p.S726P	TRPV4_ENST00000261740.2_Missense_Mutation_p.S726P|TRPV4_ENST00000346520.2_Missense_Mutation_p.S666P|TRPV4_ENST00000544971.1_Missense_Mutation_p.S619P|TRPV4_ENST00000537083.1_Missense_Mutation_p.S666P|TRPV4_ENST00000541794.1_Missense_Mutation_p.S679P|TRPV4_ENST00000536838.1_Missense_Mutation_p.S692P|TRPV4_ENST00000392719.2_Missense_Mutation_p.S679P	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	726					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						CTCTCCTTGGAGACCTGGCCC	0.612																																					p.S726P		.											.	TRPV4-94	0			c.T2176C						.						73	57	63					12																	110226237		2203	4300	6503	SO:0001583	missense	59341	exon13			CCTTGGAGACCTG	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.2176T>C	12.37:g.110226237A>G	ENSP00000406191:p.Ser726Pro	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	201	44	NM_021625	0	0	1	1	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535871	0.85812	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.991;0.983	D	0.92627	0.6113	10	0.62326	D	0.03	-49.9353	14.1491	0.65370	1.0:0.0:0.0:0.0	.	666;726;619;679;692	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	P	726;726;679;666;619;666;679;692	ENSP00000406191:S726P;ENSP00000261740:S726P;ENSP00000376480:S679P;ENSP00000319003:S666P;ENSP00000443611:S619P;ENSP00000442738:S666P;ENSP00000442167:S679P;ENSP00000444336:S692P	ENSP00000261740:S726P	S	-	1	0	TRPV4	108710620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.844000	0.69430	2.024000	0.59613	0.533000	0.62120	TCC	.		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		G	110226237	A	G	110226237	3	3	13	1	0	0	0	0	1	0	0	0	16646	304	11	4	455	4	TRPV4	12	110226237	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	13889012	110226237	23625658	93	3061											
RAD9B	144715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	110960124	110960124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaactgtggcagccctGcaatgaaaagagtggatgga	14	6	0	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr12:110960124G>C	ENST00000409778.3	+	8	850	c.826G>C	c.(826-828)Gca>Cca	p.A276P	RAD9B_ENST00000409300.1_Missense_Mutation_p.A345P|RAD9B_ENST00000409246.1_Missense_Mutation_p.A273P|RAD9B_ENST00000392672.4_Missense_Mutation_p.A345P|RAD9B_ENST00000409425.1_Missense_Mutation_p.A273P			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	342					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGCAGCCCTGCAATGAAAAG	0.458																																					p.A345P		.											.	RAD9B-228	0			c.G1033C						.						65	55	59					12																	110960124		2203	4300	6503	SO:0001583	missense	144715	exon10			AGCCCTGCAATGA		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.826G>C	12.37:g.110960124G>C	ENSP00000386697:p.Ala276Pro	Somatic	278	0		WXS	Illumina GAIIx	Phase_I	384	43	NM_152442	0	0	0	1	1	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37		.	.	.	.	.	.	.	.	.	.	G	9.083	0.999916	0.19121	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.09	4.33	-4.98	0.03019	.	5.457520	0.00166	N	0.000010	T	0.10380	0.0254	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13442	-1.0509	10	0.22109	T	0.4	10.49	3.0703	0.06229	0.1984:0.1286:0.5305:0.1425	.	276;345;342	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	P	273;345;345;273;276	ENSP00000387329:A273P;ENSP00000376440:A345P;ENSP00000386434:A345P;ENSP00000386629:A273P;ENSP00000386697:A276P	ENSP00000376440:A345P	A	+	1	0	RAD9B	109444507	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.313000	0.02718	-0.832000	0.04251	-0.291000	0.09656	GCA	.		0.458	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		C	110960124	G	C	110960124	3	2	13	1	0	0	0	0	1	0	0	0	13041	1319	46	3	1071	3	RAD9B	12	110960124	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	733887	110960124	22891771	94	3062											
TPTE2	93492	bcgsc.ca	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G													cttcaaacttggaaagtcgtTctaacatactttagccacca					rs200244531		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																					p.E43A		.											.	TPTE2-92	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	Somatic	363	2		WXS	Illumina GAIIx	Phase_I	304	9	NM_199254	0	0	0	0	0	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	13	1	0	0	0	0	1	0	0	0	16479	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		20056679	95113199	95	3063	21	2									
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C													cttggaaagtcgttctaacaTactttagccaccaaaaaaaa					rs201542496		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)			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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V		.											.	TPTE2-92	0			c.A121G						.						47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C		Somatic	350	3		WXS	Illumina GAIIx	Phase_I	286	9	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG	.		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	13	1	0	0	0	0	0	0	1	0	16479	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	7	20056686	95113192	96	3064	21	2									
RNF17	56163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	25341412	25341412	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagaatttcatcaataggtCaccattgtgaacttcaatgt	6	7	4	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:25341412C>T	ENST00000255324.5	+	2	185	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	RNF17_ENST00000255325.6_Missense_Mutation_p.H45Y|RNF17_ENST00000381921.1_Missense_Mutation_p.H45Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	45					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.H45N(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCAATAGGTCACCATTGTGA	0.388																																					p.H45Y		.											.	RNF17-228	2	Substitution - Missense(2)	lung(2)	c.C133T						.						171	152	158					13																	25341412		2203	4300	6503	SO:0001583	missense	56163	exon2			ATAGGTCACCATT	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.133C>T	13.37:g.25341412C>T	ENSP00000255324:p.His45Tyr	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	81	64	NM_001184993	0	0	0	0	0	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	7.749	0.702864	0.15172	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85629	-2.01;-2.01;-2.01	4.57	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.393020	0.21751	N	0.069679	T	0.80193	0.4578	L	0.29908	0.895	0.23138	N	0.998232	P;P;P	0.52316	0.475;0.475;0.952	B;B;P	0.47075	0.188;0.188;0.536	T	0.72571	-0.4253	10	0.66056	D	0.02	.	10.7051	0.45950	0.0:0.8079:0.1921:0.0	.	45;45;45	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	Y	45	ENSP00000255324:H45Y;ENSP00000371346:H45Y;ENSP00000255325:H45Y	ENSP00000255324:H45Y	H	+	1	0	RNF17	24239412	0.997000	0.39634	0.877000	0.34402	0.030000	0.12068	2.195000	0.42677	1.085000	0.41206	0.585000	0.79938	CAC	.		0.388	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25341412	C	T	25341412	3	4	13	1	0	0	0	0	1	0	0	0	13506	826	29	3	139	3	RNF17	13	25341412	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	5284726	25341412	89828466	97	3065											
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	29599148	29599148	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagactttcttcaaccattCagagggaactcaatgaagag	8	8	4	4			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:29599148C>A	ENST00000431530.3	+	1	401	c.343C>A	c.(343-345)Cag>Aag	p.Q115K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	105						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						TTCAACCATTCAGAGGGAACT	0.493																																					p.Q115K		.											.	MTUS2-218	0			c.C343A						.						64	62	63					13																	29599148		1928	4133	6061	SO:0001583	missense	23281	exon1			ACCATTCAGAGGG	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.343C>A	13.37:g.29599148C>A	ENSP00000392057:p.Gln115Lys	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	64	19	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.353299	0.24512	.	.	ENSG00000132938	ENST00000431530	T	0.10763	2.84	5.37	2.71	0.32032	.	1.659970	0.03282	N	0.186269	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B	0.22346	0.068	B	0.21546	0.035	T	0.36114	-0.9761	9	.	.	.	.	1.7831	0.03036	0.1479:0.4852:0.1284:0.2386	.	105	Q5JR59	MTUS2_HUMAN	K	115	ENSP00000392057:Q115K	.	Q	+	1	0	MTUS2	28497148	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.659000	0.24994	0.252000	0.21531	0.563000	0.77884	CAG	.		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29599148	C	A	29599148	3	1	13	1	0	0	0	0	1	0	0	0	10004	827	29	3	345	3	MTUS2	13	29599148	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	4257736	29599148	85570730	98	3066											
STARD13	90627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	33716447	33716447	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attaaggtgtgggcacctacCtttttcctttggaagttcac	9	9	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:33716447C>G	ENST00000336934.5	-	4	503	c.387G>C	c.(385-387)aaG>aaC	p.K129N	STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_Splice_Site_p.K11N|STARD13_ENST00000255486.4_Splice_Site_p.K121N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	129					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGCACCTACCTTTTTCCTTT	0.388																																					p.K129N		.											.	STARD13-94	0			c.G387C						.						149	128	135					13																	33716447		2203	4300	6503	SO:0001630	splice_region_variant	90627	exon4			ACCTACCTTTTTC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.387+1G>C	13.37:g.33716447C>G		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	56	40	NM_178006	0	0	0	0	0	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233106	0.79688	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.47528	3.25;0.84;0.84	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	L	0.57536	1.79	0.80722	D	1	B;P;P;P	0.48640	0.292;0.907;0.913;0.735	B;P;P;B	0.51355	0.234;0.667;0.467;0.444	T	0.54879	-0.8227	9	.	.	.	.	18.8313	0.92141	0.0:1.0:0.0:0.0	.	121;94;129;121	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	N	11;121;129;121	ENSP00000382300:K11N;ENSP00000255486:K121N;ENSP00000338785:K129N	.	K	-	3	2	STARD13	32614447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.136000	0.58004	2.622000	0.88805	0.644000	0.83932	AAG	.		0.388	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	Missense_Mutation	G	33716447	C	G	33716447	5	3	13	1	0	0	0	0	0	0	1	0	15303	695	24	3	2998	3	STARD13	13	33716447	Splice_Site	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	4117299	33716447	81453431	99	3067											
LIG4	3981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	108862298	108862298	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccttcacctcttttgtctGgcttgtagatggatagaggt	10	9	3	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr13:108862298G>C	ENST00000356922.4	-	2	1591	c.1319C>G	c.(1318-1320)cCa>cGa	p.P440R	LIG4_ENST00000405925.1_Missense_Mutation_p.P440R|LIG4_ENST00000442234.1_Missense_Mutation_p.P440R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	440					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTTTTGTCTGGCTTGTAGAT	0.353								Non-homologous end-joining																													p.P440R		.											.	LIG4-659	0			c.C1319G						.						181	185	184					13																	108862298		2203	4299	6502	SO:0001583	missense	3981	exon3			TTGTCTGGCTTGT	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1319C>G	13.37:g.108862298G>C	ENSP00000349393:p.Pro440Arg	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	60	42	NM_206937	0	0	0	10	10	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580725	0.65992	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.82255	-1.59;-1.59;-1.59	5.19	5.19	0.71726	DNA ligase, ATP-dependent, central (2);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95546	0.8616	10	0.62326	D	0.03	.	18.0695	0.89402	0.0:0.0:1.0:0.0	.	440	P49917	DNLI4_HUMAN	R	440	ENSP00000385955:P440R;ENSP00000402030:P440R;ENSP00000349393:P440R	ENSP00000349393:P440R	P	-	2	0	LIG4	107660299	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.697000	0.98697	2.572000	0.86782	0.643000	0.83706	CCA	.		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		C	108862298	G	C	108862298	3	2	13	1	0	0	0	0	1	0	0	0	8812	1348	47	3	1420	3	LIG4	13	108862298	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	75145851	108862298	6307580	100	3068											
SAMD4A	23034	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	55203812	55203812	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accccacccatgaatgtgccAaaccagcctctaggacatgg	8	15	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr14:55203812A>T	ENST00000554335.1	+	4	1449	c.786A>T	c.(784-786)ccA>ccT	p.P262P	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Silent_p.P262P|SAMD4A_ENST00000357634.3_Silent_p.P261P			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	262					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						TGAATGTGCCAAACCAGCCTC	0.502																																					p.P262P		.											.	SAMD4A-90	0			c.A786T						.						193	193	193					14																	55203812		2203	4300	6503	SO:0001819	synonymous_variant	23034	exon3			TGTGCCAAACCAG	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.786A>T	14.37:g.55203812A>T		Somatic	73	1		WXS	Illumina GAIIx	Phase_I	67	49	NM_015589	0	0	0	0	0	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																			.		0.502	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55203812	A	T	55203812	2	4	13	1	0	0	0	0	0	0	0	1	13866	117	5	5		5	SAMD4A	14	55203812	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10		55203812	52145728	101	3069											
ZFYVE26	23503	broad.mit.edu	37	chr14	68229079	68229079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggctttgaggcaggccatGccccaagcatgccacgcccc	11	18	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr14:68229079G>T	ENST00000347230.4	-	34	6348	c.6210C>A	c.(6208-6210)ggC>ggA	p.G2070G	ZFYVE26_ENST00000555452.1_Silent_p.G2070G|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2070					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)		GGCAGGCCATGCCCCAAGCAT	0.547																																					p.G2070G		.											.	ZFYVE26-162	0			c.C6210A						.						72	60	64					14																	68229079		2203	4300	6503	SO:0001819	synonymous_variant	23503	exon34			GGCCATGCCCCAA	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.6210C>A	14.37:g.68229079G>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	106	4	NM_015346	0	0	5	5	0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																			.		0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68229079	G	T	68229079	2	4	13	1	0	0	0	0	0	0	0	1	17716	1306	46	3		3	ZFYVE26	14	68229079	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	13025267	68229079	39120461	102	3070											
KCNK10	54207	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	88652422	88652422	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatcgtggatctccacgctGagccttcgccgtgtctcccg	10	15	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr14:88652422G>T	ENST00000340700.5	-	7	1525	c.1074C>A	c.(1072-1074)ctC>ctA	p.L358L	KCNK10_ENST00000312350.5_Silent_p.L363L|KCNK10_ENST00000319231.5_Silent_p.L363L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	358					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTCCACGCTGAGCCTTCGCC	0.647																																					p.L363L		.											.	KCNK10-95	0			c.C1089A						.						33	24	27					14																	88652422		2192	4291	6483	SO:0001819	synonymous_variant	54207	exon7			CACGCTGAGCCTT	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.1074C>A	14.37:g.88652422G>T		Somatic	133	1		WXS	Illumina GAIIx	Phase_I	155	110	NM_138318	0	0	0	0	0	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																			.		0.647	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652422	G	T	88652422	2	4	13	1	0	0	0	0	0	0	0	1	8086	1277	45	3		3	KCNK10	14	88652422	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	20423343	88652422	18697118	103	3071											
SERPINA9	327657	bcgsc.ca	37	chr14	94933709	94933709	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattcagggtgaaagggcttCtcccacttggctagcacaaa	10	10	2	1	rs6575433	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr14:94933709C>T	ENST00000380365.3	-	3	717	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Silent_p.E133E|SERPINA9_ENST00000337425.5_Silent_p.E231E|SERPINA9_ENST00000424550.2_Silent_p.E82E|SERPINA9_ENST00000546329.1_Silent_p.E195E|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Silent_p.E131E			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	213					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GAAAGGGCTTCTCCCACTTGG	0.458													C|||	1736	0.346645	0.2126	0.3588	5008	,	,		21008	0.1825		0.5427	False		,,,				2504	0.4867				p.E231E		.											.	SERPINA9-226	0			c.G693A						.	C	,	994,2806		120,754,1026	64	60	61		393,693	0.5	0.9	14	dbSNP_116	61	4326,3936		1123,2080,928	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	1243,2834,1954	TT,TC,CC		47.6398,26.1579,44.1055	,	131/336,231/436	94933709	5320,6742	1900	4131	6031	SO:0001819	synonymous_variant	327657	exon3			GGGCTTCTCCCAC	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.639G>A	14.37:g.94933709C>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	70	5	NM_175739	0	0	0	0	0	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37																																																																																				C|0.636;T|0.364		0.458	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		T	94933709	C	T	94933709	2	4	13	1	0	0	0	0	0	0	0	1	14140	912	32	3		3	SERPINA9	14	94933709	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	6281287	94933709	12415831	104	3072											
CEP152	22995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	49048340	49048340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tactgatagatttccagttgGatccgcttggcttcctgcat	9	10	0	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr15:49048340G>C	ENST00000380950.2	-	20	3292	c.3105C>G	c.(3103-3105)atC>atG	p.I1035M	CEP152_ENST00000325747.5_Missense_Mutation_p.I942M|CEP152_ENST00000399334.3_Missense_Mutation_p.I1035M	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1035					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)		TTTCCAGTTGGATCCGCTTGG	0.423																																					p.I1035M		.											.	CEP152-70	0			c.C3105G						.						149	137	140					15																	49048340		1916	4129	6045	SO:0001583	missense	22995	exon20			CAGTTGGATCCGC	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.3105C>G	15.37:g.49048340G>C	ENSP00000370337:p.Ile1035Met	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	73	8	NM_014985	0	0	0	0	0	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388153	0.42308	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.52754	0.65;0.66;0.66	5.49	0.15	0.14883	.	0.827292	0.11156	N	0.593592	T	0.36054	0.0953	L	0.35414	1.06	0.09310	N	1	P;B;P	0.49090	0.834;0.053;0.919	B;B;P	0.48627	0.406;0.013;0.584	T	0.15093	-1.0449	10	0.32370	T	0.25	-0.0823	1.5522	0.02578	0.2007:0.3442:0.2509:0.2042	.	942;1035;1035	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	M	1035;942;1035	ENSP00000370337:I1035M;ENSP00000321000:I942M;ENSP00000382271:I1035M	ENSP00000321000:I942M	I	-	3	3	CEP152	46835632	0.705000	0.27846	0.739000	0.30968	0.941000	0.58515	0.056000	0.14256	-0.141000	0.11374	0.591000	0.81541	ATC	.		0.423	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		C	49048340	G	C	49048340	3	2	13	1	0	0	0	0	1	0	0	0	3255	1164	41	3	1887	3	CEP152	15	49048340	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		49048340	53483052	105	3073											
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	62170946	62170946	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacaaactcaaatgcaaCtaaaagaaaaataatgttca	4	6	2	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr15:62170946C>A	ENST00000261517.5	-	74	10076		c.e74-1		VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000558919.1_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAAATGCAACTAAAAGAAAA	0.328																																					.		.											.	VPS13C-92	0			c.10003-1G>T						.						40	36	37					15																	62170946		2202	4299	6501	SO:0001630	splice_region_variant	54832	exon75			ATGCAACTAAAAG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10003-1G>T	15.37:g.62170946C>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	20	7	NM_020821	0	0	0	1	1		Splice_Site	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334606	0.81801	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6408	0.95757	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	59958238	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.487000	0.81328	2.643000	0.89663	0.650000	0.86243	.	.		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	A	62170946	C	A	62170946	5	1	13	1	0	0	0	0	0	0	1	0	17240	579	20	3	1335	3	VPS13C	15	62170946	Splice_Site	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	13122606	62170946	40360446	106	3074											
RPS2	6187	hgsc.bcm.edu	37	chr16	2014528	2014528	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccgcgaccccggccccgGatgccactgccgaaacctcc	11	21	0	0	rs17135712	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:2014528G>A	ENST00000343262.4	-	2	155	c.99C>T	c.(97-99)atC>atT	p.I33I	RPS2_ENST00000530225.1_Silent_p.I33I|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000526522.1_Silent_p.I33I|RPS2_ENST00000529806.1_Silent_p.I33I|RNF151_ENST00000569714.1_5'Flank|SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000321392.3_5'Flank|RNF151_ENST00000569210.2_5'Flank	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	33	Arg/Gly-rich.				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)|positive regulation of transferase activity (GO:0051347)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCCGGCCCCGGATGCCACTGC	0.751													G|||	533	0.10643	0.0045	0.1873	5008	,	,		12219	0.0149		0.1143	False		,,,				2504	0.273				p.I33I		.											.	RPS2-90	0			c.C99T						.	G		74,3152		0,74,1539	5	8	7		99	-2.2	0.3	16	dbSNP_123	7	745,6175		36,673,2751	no	coding-synonymous	RPS2	NM_002952.3		36,747,4290	AA,AG,GG		10.7659,2.2939,8.0721		33/294	2014528	819,9327	1613	3460	5073	SO:0001819	synonymous_variant	6187	exon2			GCCCCGGATGCCA	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.99C>T	16.37:g.2014528G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_002952	0	0	49	152	103	B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	CCDS10452.1																																																																																			G|0.933;A|0.067		0.751	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		A	2014528	G	A	2014528	2	1	13	1	0	0	0	0	0	0	0	1	13676	1164	41	3		3	RPS2	16	2014528	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		2014528	88340225	107	3075											
PRSS27	83886	broad.mit.edu	37	chr16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaccccagctgatcAcccccgcctgcagccacgac	7	22	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																					p.V246G		.											.	PRSS27-91	0			c.T737G						.						27	24	25					16																	2762757		2178	4284	6462	SO:0001583	missense	83886	exon6			CTGATCACCCCCG	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly	Somatic	52	9		WXS	Illumina GAIIx	Phase_I	136	28	NM_031948	0	0	2	2	0		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG	.		0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		C	2762757	A	C	2762757	3	2	13	1	0	0	0	0	1	0	0	0	12663	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	748229	2762757	87591996	108	3076											
MEFV	4210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3293669	3293669	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaggttggggtaagcGgtttctgcatccagaatcac	13	7	2	3	rs104895213		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:3293669G>C	ENST00000219596.1	-	10	1857	c.1818C>G	c.(1816-1818)acC>acG	p.T606T	MEFV_ENST00000339854.4_Silent_p.T426T|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.T395T	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	606	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGGGGTAAGCGGTTTCTGCAT	0.483																																					p.T606T		.											.	MEFV-228	0			c.C1818G						.						158	172	167					16																	3293669		2197	4300	6497	SO:0001819	synonymous_variant	4210	exon10			GTAAGCGGTTTCT	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1818C>G	16.37:g.3293669G>C		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	117	51	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			.		0.483	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		C	3293669	G	C	3293669	2	2	13	1	0	0	0	0	0	0	0	1	9497	1103	39	2		2	MEFV	16	3293669	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	530912	3293669	87061084	109	3077											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	13	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	10904	3304573	87050180	110	3078											
TAOK2	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30002486	30002486	+	IGR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aagcatgaggctgggcttctCcagcatggctctggggggca	16	10	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:30002486C>G	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.S916C	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTGGGCTTCTCCAGCATGGCT	0.677																																					p.S916C		.											.	TAOK2-521	0			c.C2747G						.						60	64	63					16																	30002486		2197	4300	6497	SO:0001628	intergenic_variant	9344	exon19			GCTTCTCCAGCAT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002486C>G		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	129	47	NM_004783	0	0	23	59	36	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	c	17.56	3.419776	0.62622	.	.	ENSG00000149930	ENST00000279394	T	0.63255	-0.03	5.0	5.0	0.66597	.	.	.	.	.	T	0.78426	0.4281	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80094	-0.1526	8	.	.	.	.	12.2303	0.54484	0.0:0.7064:0.2936:0.0	.	916	Q9UL54-2	.	C	916	ENSP00000279394:S916C	.	S	+	2	0	TAOK2	29909987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.830000	0.69324	2.324000	0.78689	0.645000	0.84053	TCC	.		0.677	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		G	30002486	C	G	30002486	1	3	13	0	1	0	0	0	0	0	0	0	15595	855	30	3		3	TAOK2	16	30002486	IGR	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	26697913	30002486	60352267	111	3079											
RPGRIP1L	23322	hgsc.bcm.edu;broad.mit.edu	37	chr16	53692791	53692791	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgagtttttcattttgatCttaaaaataaagtccacaca	4	7	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:53692791C>T	ENST00000379925.3	-	11	1294		c.e11-1		RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000262135.4_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCATTTTGATCTTAAAAATAA	0.308																																					.		.											.	RPGRIP1L-91	0			c.1244-1G>A						.						85	78	80					16																	53692791		2195	4297	6492	SO:0001630	splice_region_variant	23322	exon12			TTTGATCTTAAAA		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.1244-1G>A	16.37:g.53692791C>T		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	56	5	NM_001127897	0	0	0	0	0	A0PJ88|Q9Y2K8	Splice_Site	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637236	0.67130	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7289	0.96175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPGRIP1L	52250292	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.716000	0.54904	2.770000	0.95276	0.655000	0.94253	.	.		0.308	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	Intron	T	53692791	C	T	53692791	5	4	13	1	0	0	0	0	0	0	1	0	13595	927	32	3	2772	3	RPGRIP1L	16	53692791	Splice_Site	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	23690305	53692791	36661962	112	3080											
NLRC5	84166	bcgsc.ca	37	chr16	57093436	57093436	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagaggaccaggctgggaaGacactcaggtaatccctgca	13	10	1	2	rs117950337	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:57093436G>T	ENST00000262510.6	+	30	4203	c.3978G>T	c.(3976-3978)aaG>aaT	p.K1326N	NLRC5_ENST00000539144.1_Missense_Mutation_p.K1297N|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1297N|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.K1326N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1326					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.K1326N(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTGGGAAGACACTCAGGT	0.637													G|||	73	0.0145767	0	0.0187	5008	,	,		20138	0		0.0229	False		,,,				2504	0.0378				p.K1326N		.											.	NLRC5-159	1	Substitution - Missense(1)	lung(1)	c.G3978T						.		ASN/LYS	25,4371	29.9+/-59.1	0,25,2173	45	44	44		3978	2.8	0	16	dbSNP_132	44	207,8393	85.8+/-148.2	1,205,4094	yes	missense	NLRC5	NM_032206.3	94	1,230,6267	TT,TG,GG		2.407,0.5687,1.7852	probably-damaging	1326/1867	57093436	232,12764	2198	4300	6498	SO:0001583	missense	84166	exon29			TGGGAAGACACTC	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3978G>T	16.37:g.57093436G>T	ENSP00000262510:p.Lys1326Asn	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	176	6	NM_032206	0	0	0	0	0	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	29|29	0.013278388278388278|0.013278388278388278	0|0	0.0|0.0	7|7	0.019337016574585635|0.019337016574585635	0|0	0.0|0.0	22|22	0.029023746701846966|0.029023746701846966	g|g	6.264|6.264	0.416766|0.416766	0.11870|0.11870	0.005687|0.005687	0.02407|0.02407	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.55760	.|0.52;5.33;0.52;5.33;0.52;0.5	4.8|4.8	2.82|2.82	0.32997|0.32997	.|.	.|.	.|.	.|.	.|.	T|T	0.28896|0.28896	0.0717|0.0717	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P;P;P;P;B	.|0.44090	.|0.734;0.826;0.799;0.634;0.378	.|B;P;P;B;B	.|0.45232	.|0.282;0.474;0.474;0.165;0.221	T|T	0.25257|0.25257	-1.0137|-1.0137	5|9	.|0.48119	.|T	.|0.1	.|.	6.4694|6.4694	0.21999|0.21999	0.2217:0.0:0.7783:0.0|0.2217:0.0:0.7783:0.0	.|.	.|1010;1297;1297;1326;1326	.|Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;.;NLRC5_HUMAN	Y|N	1078;78|1326;1297;1326;769;1297;802;537	.|ENSP00000262510:K1326N;ENSP00000308886:K1297N;ENSP00000389739:K1326N;ENSP00000441727:K1297N;ENSP00000441597:K802N;ENSP00000440153:K537N	.|ENSP00000262510:K1326N	D|K	+|+	1|3	0|2	NLRC5|NLRC5	55650937|55650937	0.292000|0.292000	0.24362|0.24362	0.005000|0.005000	0.12908|0.12908	0.483000|0.483000	0.33249|0.33249	0.734000|0.734000	0.26101|0.26101	0.613000|0.613000	0.30089|0.30089	0.544000|0.544000	0.68410|0.68410	GAC|AAG	G|0.982;T|0.018		0.637	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		T	57093436	G	T	57093436	3	4	13	1	0	0	0	0	1	0	0	0	10509	933	33	3	4088	3	NLRC5	16	57093436	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	3400645	57093436	33261317	113	3081											
ATP2C2	9914	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	84402268	84402268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgaagaaactcggcttctCgggcgggggccgccagtacc	14	14	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:84402268C>T	ENST00000262429.4	+	1	136	c.47C>T	c.(46-48)tCg>tTg	p.S16L	ATP2C2_ENST00000416219.2_Missense_Mutation_p.S16L	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	16					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCGGCTTCTCGGGCGGGGGC	0.711																																					p.S16L		.											.	ATP2C2-91	0			c.C47T						.						7	12	10					16																	84402268		1805	4017	5822	SO:0001583	missense	9914	exon1			GCTTCTCGGGCGG	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.47C>T	16.37:g.84402268C>T	ENSP00000262429:p.Ser16Leu	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	218	36	NM_014861	0	0	0	0	0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820238	0.16678	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.92647	-3.08;-3.04	4.38	-5.22	0.02806	.	903.776000	0.00166	N	0.000000	T	0.79381	0.4436	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	0.73927	-0.3828	10	0.10377	T	0.69	.	5.7402	0.18089	0.0:0.2028:0.4051:0.3921	.	16;16	E7ES94;O75185	.;AT2C2_HUMAN	L	16	ENSP00000397925:S16L;ENSP00000262429:S16L	ENSP00000262429:S16L	S	+	2	0	ATP2C2	82959769	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.552000	0.06020	-0.857000	0.04115	0.514000	0.50259	TCG	.		0.711	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		T	84402268	C	T	84402268	3	4	13	1	0	0	0	0	1	0	0	0	1145	893	31	1	49	1	ATP2C2	16	84402268	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	27308832	84402268	5952485	114	3082											
COX4I1	1327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	85838589	85838589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcccagcttatatggaTcggcgtgaccaccccttgcc	9	16	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:85838589T>G	ENST00000562336.1	+	3	313	c.120T>G	c.(118-120)gaT>gaG	p.D40E	COX4I1_ENST00000253452.2_Missense_Mutation_p.D40E|COX4I1_ENST00000568794.1_Missense_Mutation_p.D40E|COX4I1_ENST00000564903.1_Missense_Mutation_p.D40E|COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000561569.1_Missense_Mutation_p.D40E			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	40					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				CTTATATGGATCGGCGTGACC	0.498																																					p.D40E		.											.	COX4I1-226	0			c.T120G						.						62	64	63					16																	85838589		2198	4300	6498	SO:0001583	missense	1327	exon3			TATGGATCGGCGT	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2265	protein-coding gene	gene with protein product		123864	"cytochrome c oxidase subunit IV"	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.120T>G	16.37:g.85838589T>G	ENSP00000457513:p.Asp40Glu	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	232	98	NM_001861	1	0	587	1204	616	B2R4J2|D3DUM7|Q6P666	Missense_Mutation	SNP	ENST00000562336.1	37	CCDS10955.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445563	0.43429	.	.	ENSG00000131143	ENST00000253452	T	0.64991	-0.13	4.77	-5.51	0.02568	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.80966	-0.1146	10	0.44086	T	0.13	-38.8807	15.2231	0.73330	0.0:0.2916:0.0:0.7084	.	40;40	Q86WV2;P13073	.;COX41_HUMAN	E	40	ENSP00000253452:D40E	ENSP00000253452:D40E	D	+	3	2	COX4I1	84396090	0.991000	0.36638	0.486000	0.27416	0.030000	0.12068	0.215000	0.17562	-0.894000	0.03925	-0.263000	0.10527	GAT	.		0.498	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	NM_001861		G	85838589	T	G	85838589	3	3	13	1	0	0	0	0	1	0	0	0	3776	1432	50	5	126	5	COX4I1	16	85838589	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	1436321	85838589	4516164	115	3083											
CBFA2T3	863	ucsc.edu;bcgsc.ca	37	chr16	88968048	88968048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcgctgaggccttagcTttcctgtccactggggctgc	13	13	0	1	rs76033980	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr16:88968048T>C	ENST00000268679.4	-	2	564	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CBFA2T3_ENST00000327483.5_5'UTR|CBFA2T3_ENST00000436887.2_Silent_p.K56K|CBFA2T3_ENST00000360302.2_5'UTR|CBFA2T3_ENST00000448839.1_Intron	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	56	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCCTTAGCTTTCCTGTCCA	0.672			T	RUNX1	AML								C|||	252	0.0503195	0.0991	0.0461	5008	,	,		14614	0.0218		0.0239	False		,,,				2504	0.044				p.K56K		.		Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	.	CBFA2T3-722	0			c.A168G						.	C	,	416,3978	765.9+/-413.4	23,370,1804	33	37	36		168,	3	0.4	16	dbSNP_131	36	231,8369	798.7+/-407.4	3,225,4072	no	coding-synonymous,utr-5	CBFA2T3	NM_005187.5,NM_175931.2	,	26,595,5876	CC,CT,TT		2.686,9.4675,4.9792	,	56/654,	88968048	647,12347	2197	4300	6497	SO:0001819	synonymous_variant	863	exon2			CTTAGCTTTCCTG	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.168A>G	16.37:g.88968048T>C		Somatic	14	0		WXS	Illumina GAIIx	Phase_I	31	7	NM_005187	0	0	0	0	0	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																			T|0.958;C|0.042		0.672	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		C	88968048	T	C	88968048	2	2	13	1	0	0	0	0	0	0	0	1	2705	1606	56	4		4	CBFA2T3	16	88968048	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	3129459	88968048	1386705	116	3084											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000599026.1_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	17	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	13	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10		260182	80935028	117	3085											
GUCY2D	3000	hgsc.bcm.edu	37	chr17	7906529	7906529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctctccgccgtgttcaCggtgggggtcctgggcccct	14	17	2	0	rs201414567	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:7906529C>T	ENST00000254854.4	+	2	314	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	55			T -> M (in LCA1; dbSNP:rs201414567). {ECO:0000269|PubMed:21602930}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				gccgTGTTCACGGTGGGGGTC	0.781													C|||	12	0.00239617	0	0	5008	,	,		7305	0.0119		0	False		,,,				2504	0				p.T55M		.											.	GUCY2D-319	0			c.C164T						.						2	2	2					17																	7906529		1588	3372	4960	SO:0001583	missense	3000	exon2			TGTTCACGGTGGG	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.164C>T	17.37:g.7906529C>T	ENSP00000254854:p.Thr55Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_000180	0	0	0	0	0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	11.96	1.793958	0.31777	.	.	ENSG00000132518	ENST00000254854	T	0.75367	-0.93	5.41	3.34	0.38264	.	0.333624	0.21549	N	0.072773	T	0.67297	0.2878	L	0.50333	1.59	0.09310	N	0.999997	D	0.55800	0.973	P	0.48704	0.587	T	0.63994	-0.6511	10	0.62326	D	0.03	.	12.8059	0.57614	0.6499:0.35:0.0:0.0	.	55	Q02846	GUC2D_HUMAN	M	55	ENSP00000254854:T55M	ENSP00000254854:T55M	T	+	2	0	GUCY2D	7847254	0.211000	0.23529	0.548000	0.28192	0.060000	0.15804	0.805000	0.27112	0.545000	0.28902	0.650000	0.86243	ACG	C|0.998;T|0.002		0.781	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			T	7906529	C	T	7906529	3	4	13	1	0	0	0	0	1	0	0	0	6924	536	19	1	166	1	GUCY2D	17	7906529	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	7646347	7906529	73288681	118	3086											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	10	9	1	6			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y		.											.	.	0			c.G152A						.						274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	302	12		WXS	Illumina GAIIx	Phase_I	258	18	NM_145301	0	0	9	46	37	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		T	15457087	C	T	15457087	3	4	13	1	0	0	0	0	1	0	0	0	5539	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	7550558	15457087	65738123	119	3087											
SUPT6H	6830	broad.mit.edu	37	chr17	27028024	27028024	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccctagctactcctacacGaccccaagccagcccatcac	4	21	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:27028024G>A	ENST00000314616.6	+	36	5155	c.4872G>A	c.(4870-4872)acG>acA	p.T1624T	SUPT6H_ENST00000347486.4_Silent_p.T1624T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1624					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)					ACTCCTACACGACCCCAAGCC	0.627																																					p.T1624T		.											.	SUPT6H-93	0			c.G4872A						.						207	197	200					17																	27028024		2203	4300	6503	SO:0001819	synonymous_variant	6830	exon36			CTACACGACCCCA	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.4872G>A	17.37:g.27028024G>A		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_003170	0	0	49	49	0	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																			.		0.627	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27028024	G	A	27028024	2	1	13	1	0	0	0	0	0	0	0	1	15447	1045	37	1		1	SUPT6H	17	27028024	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	11570937	27028024	54167186	120	3088											
IGFBP4	3487	hgsc.bcm.edu	37	chr17	38600092	38600092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccgaggagaagctGgcgcgctgccgcccccccgt	13	19	0	1	rs598892	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:38600092G>A	ENST00000269593.4	+	1	380	c.105G>A	c.(103-105)ctG>ctA	p.L35L	IGFBP4_ENST00000542955.1_Intron	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGAGAAGCTGGCGCGCTGCC	0.771													G|||	1792	0.357827	0.0386	0.5	5008	,	,		9796	0.4752		0.3946	False		,,,				2504	0.5297				p.L35L	GBM(160;940 3581 26177)	.											.	IGFBP4-522	0			c.G105A						.	G		266,3270		24,218,1526	3	3	3		105	4	1	17	dbSNP_83	3	2267,4893		352,1563,1665	no	coding-synonymous	IGFBP4	NM_001552.2		376,1781,3191	AA,AG,GG		31.662,7.5226,23.6818		35/259	38600092	2533,8163	1768	3580	5348	SO:0001819	synonymous_variant	3487	exon1			GAAGCTGGCGCGC	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.105G>A	17.37:g.38600092G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001552	0	0	0	4	4	A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	37	CCDS11367.1																																																																																			G|0.645;A|0.355		0.771	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		A	38600092	G	A	38600092	2	1	13	1	0	0	0	0	0	0	0	1	7608	1335	47	3		3	IGFBP4	17	38600092	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	11572068	38600092	42595118	121	3089											
SLC35B1	10237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	47780364	47780364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacacaaccgtcataaAgatgaagctctagagaaaga	7	7	2	4			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:47780364A>T	ENST00000240333.6	-	8	893	c.772T>A	c.(772-774)Ttt>Att	p.F258I	SLC35B1_ENST00000415270.2_Missense_Mutation_p.F295I			P78383	S35B1_HUMAN	solute carrier family 35, member B1	258					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ACCGTCATAAAGATGAAGCTC	0.463																																					p.F258I		.											.	SLC35B1-90	0			c.T772A						.						120	121	121					17																	47780364		2203	4300	6503	SO:0001583	missense	10237	exon8			TCATAAAGATGAA	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.772T>A	17.37:g.47780364A>T	ENSP00000240333:p.Phe258Ile	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	136	108	NM_005827	0	0	0	1	1	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991557	0.93106	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.36699	1.24;1.24;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.91920	3.255	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.66602	0.945;0.945	T	0.75416	-0.3325	10	0.87932	D	0	-8.0E-4	14.8245	0.70101	1.0:0.0:0.0:0.0	.	191;258	D3DTX1;P78383	.;S35B1_HUMAN	I	258;295;134;134;191	ENSP00000240333:F258I;ENSP00000409548:F295I;ENSP00000423323:F191I	ENSP00000240333:F258I	F	-	1	0	SLC35B1	45135363	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.874000	0.92363	2.153000	0.67306	0.533000	0.62120	TTT	.		0.463	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		T	47780364	A	T	47780364	3	4	13	1	0	0	0	0	1	0	0	0	14620	72	3	5	204	5	SLC35B1	17	47780364	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	9180272	47780364	33414846	122	3090											
FASN	2194	bcgsc.ca	37	chr17	80039481	80039481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgggagtgctcacccagGatgtgtgccacggcctccac	12	14	1	0	rs1140616	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr17:80039481G>A	ENST00000306749.2	-	37	6620	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2134	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCTCACCCAGGATGTGTGCCA	0.642													.|||	1522	0.303914	0.1823	0.2867	5008	,	,		14395	0.2996		0.4791	False		,,,				2504	0.3047				p.I2134I	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.C6402T						.	G		990,3412	353.1+/-312.0	108,774,1319	42	41	41		6402	1.7	1	17	dbSNP_86	41	4501,4097	569.4+/-389.2	1196,2109,994	no	coding-synonymous	FASN	NM_004104.4		1304,2883,2313	AA,AG,GG		47.6506,22.4898,42.2385		2134/2512	80039481	5491,7509	2201	4299	6500	SO:0001819	synonymous_variant	2194	exon37			ACCCAGGATGTGT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6402C>T	17.37:g.80039481G>A		Somatic	98	1		WXS	Illumina GAIIx	Phase_I	107	5	NM_004104	0	0	0	0	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			G|0.632;A|0.368		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80039481	G	A	80039481	2	1	13	1	0	0	0	0	0	0	0	1	5705	1164	41	3		3	FASN	17	80039481	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	32259117	80039481	1155729	123	3091											
DSC2	1824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	28654754	28654754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcaggatcaaccgcaaCaatctccgcagatgacatgg	8	13	4	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr18:28654754C>A	ENST00000280904.6	-	12	2226	c.1783G>T	c.(1783-1785)Gtt>Ttt	p.V595F	DSC2_ENST00000251081.6_Missense_Mutation_p.V595F|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAACCGCAACAATCTCCGCA	0.448																																					p.V595F		.											.	DSC2-517	0			c.G1783T						.						161	133	143					18																	28654754		2203	4300	6503	SO:0001583	missense	1824	exon12			CCGCAACAATCTC	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1783G>T	18.37:g.28654754C>A	ENSP00000280904:p.Val595Phe	Somatic	228	0		WXS	Illumina GAIIx	Phase_I	181	128	NM_024422	0	0	0	0	0		Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	0.927	-0.713856	0.03206	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.61392	0.11;0.11	5.27	3.34	0.38264	Cadherin (2);Cadherin-like (1);	0.694506	0.11089	N	0.600965	T	0.53110	0.1776	M	0.67953	2.075	0.35442	D	0.794925	B;B	0.31435	0.071;0.323	B;B	0.30495	0.066;0.116	T	0.63274	-0.6674	10	0.72032	D	0.01	.	5.9325	0.19146	0.3436:0.5684:0.0:0.088	.	595;595	Q02487;Q02487-2	DSC2_HUMAN;.	F	595;595;361;608	ENSP00000251081:V595F;ENSP00000280904:V595F	ENSP00000251081:V595F	V	-	1	0	DSC2	26908752	0.010000	0.17322	0.923000	0.36655	0.019000	0.09904	0.494000	0.22467	1.332000	0.45431	0.655000	0.94253	GTT	.		0.448	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28654754	C	A	28654754	3	1	13	1	0	0	0	0	1	0	0	0	4780	478	17	3	982	3	DSC2	18	28654754	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		28654754	49422494	124	3092											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003374	1003374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggccccgatggcggcGccagtggggggtgaagcacc	18	14	0	1	rs34585248	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:1003374G>A	ENST00000234389.3	+	2	691	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	224					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGATGGCGGCGCCAGTGGGGG	0.746													g|||	158	0.0315495	0.0015	0.0173	5008	,	,		11320	0.0754		0.0338	False		,,,				2504	0.0348				p.A224A		.											.	GRIN3B-90	0			c.G672A						.	G		37,3905		0,37,1934	4	6	5		672	-8.1	0	19	dbSNP_126	5	211,7611		3,205,3703	no	coding-synonymous	GRIN3B	NM_138690.1		3,242,5637	AA,AG,GG		2.6975,0.9386,2.1081		224/1044	1003374	248,11516	1971	3911	5882	SO:0001819	synonymous_variant	116444	exon2			GGCGGCGCCAGTG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.672G>A	19.37:g.1003374G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	39	26	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			G|0.966;A|0.034		0.746	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003374	G	A	1003374	2	1	13	1	0	0	0	0	0	0	0	1	6811	1074	38	1		1	GRIN3B	19	1003374	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		1003374	58125609	125	3093											
BTBD2	55643	broad.mit.edu	37	chr19	1993163	1993163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaatctgcacctcgtcCgagtagagaaacctgcagaa	11	12	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:1993163C>T	ENST00000255608.4	-	3	556	c.540G>A	c.(538-540)tcG>tcA	p.S180S	BTBD2_ENST00000590646.1_5'UTR|AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	180	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTCGTCCGAGTAGAGAA	0.642																																					p.S180S		.											.	BTBD2-92	0			c.G540A						.						69	51	57					19																	1993163		2203	4300	6503	SO:0001819	synonymous_variant	55643	exon3			CTCGTCCGAGTAG	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.540G>A	19.37:g.1993163C>T		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	59	7	NM_017797	0	0	0	0	0	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	CCDS12078.1																																																																																			.		0.642	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			T	1993163	C	T	1993163	2	4	13	1	0	0	0	0	0	0	0	1	1547	639	23	1		1	BTBD2	19	1993163	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	989789	1993163	57135820	126	3094											
AMH	268	hgsc.bcm.edu	37	chr19	2251829	2251829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaggtccgtggggccgCcctggcgcgcccaccctgct	15	17	0	0	rs200031151	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:2251829C>T	ENST00000221496.4	+	5	1578	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	519					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		CGTGGGGCCGCCCTGGCGCGC	0.692									Persistant Mullerian Duct Syndrome (type I and II)				c|||	5	0.000998403	0	0.0014	5008	,	,		10319	0		0.004	False		,,,				2504	0				p.A519V		.											.	AMH-130	0			c.C1556T						.		VAL/ALA	1,4367		0,1,2183	12	12	12		1556	1.7	0	19		12	13,8545		0,13,4266	yes	missense	AMH	NM_000479.3	64	0,14,6449	TT,TC,CC		0.1519,0.0229,0.1083	benign	519/561	2251829	14,12912	2184	4279	6463	SO:0001583	missense	268	exon5	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	GGGCCGCCCTGGC	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.1556C>T	19.37:g.2251829C>T	ENSP00000221496:p.Ala519Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	48	24	NM_000479	0	0	0	0	0	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	c	7.318	0.616454	0.14129	2.29E-4	0.001519	ENSG00000104899	ENST00000221496	D	0.84146	-1.81	3.88	1.72	0.24424	Transforming growth factor-beta, C-terminal (3);	0.528716	0.18165	U	0.149659	T	0.72479	0.3465	N	0.12637	0.245	0.09310	N	1	B	0.29646	0.253	B	0.36186	0.219	T	0.63686	-0.6581	10	0.42905	T	0.14	-2.3717	8.1279	0.31010	0.0:0.7986:0.0:0.2014	.	519	P03971	MIS_HUMAN	V	519	ENSP00000221496:A519V	ENSP00000221496:A519V	A	+	2	0	AMH	2202829	0.002000	0.14202	0.005000	0.12908	0.410000	0.31052	1.004000	0.29822	0.639000	0.30564	0.299000	0.19835	GCC	.		0.692	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		T	2251829	C	T	2251829	3	4	13	1	0	0	0	0	1	0	0	0	572	739	26	3	1574	3	AMH	19	2251829	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	258666	2251829	56877154	127	3095											
LINGO3	645191	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	2290685	2290685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtcttgcgacgctgcAcgatccacagcaggcgacag	14	12	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:2290685A>G	ENST00000585527.1	-	1	1338	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	LINGO3_ENST00000404279.1_Missense_Mutation_p.V364A			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	364	LRRCT.					integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GCGACGCTGCACGATCCACAG	0.697																																					p.V364A		.											.	.	0			c.T1091C						.						22	24	23					19																	2290685		2059	4180	6239	SO:0001583	missense	645191	exon2			CGCTGCACGATCC	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1091T>C	19.37:g.2290685A>G	ENSP00000467753:p.Val364Ala	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	89	28	NM_001101391	0	0	2	2	0		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	a	16.99	3.274735	0.59649	.	.	ENSG00000220008	ENST00000404279	T	0.56611	0.45	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.39172	0.1068	N	0.25380	0.74	0.38529	D	0.948936	B	0.32051	0.354	B	0.35039	0.194	T	0.27640	-1.0068	9	0.16420	T	0.52	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	364	P0C6S8	LIGO3_HUMAN	A	364	ENSP00000384979:V364A	ENSP00000384979:V364A	V	-	2	0	LINGO3	2241685	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.010000	0.70753	1.576000	0.49790	0.379000	0.24179	GTG	.		0.697	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		G	2290685	A	G	2290685	3	3	13	1	0	0	0	0	1	0	0	0	8846	159	6	4	691	4	LINGO3	19	2290685	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	38856	2290685	56838298	128	3096											
PLIN5	440503	hgsc.bcm.edu	37	chr19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcgggcaggccccGcacgctggactccagagcct	16	17	0	1	rs1062223	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3	4	4		916	4.6	1	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_001013706	0	0	0	0	0	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		A	4524016	G	A	4524016	3	1	13	1	0	0	0	0	1	0	0	0	12132	1086	38	1	479	1	PLIN5	19	4524016	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	2233331	4524016	54604967	129	3097											
ZNRF4	148066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	5455609	5455609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaactcaactgccctcgcGtcctggccacaggccccctg	8	20	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:5455609G>A	ENST00000222033.4	+	1	184	c.107G>A	c.(106-108)cGt>cAt	p.R36H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	36						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGCCCTCGCGTCCTGGCCAC	0.662																																					p.R36H		.											.	ZNRF4-135	0			c.G107A						.						38	44	42					19																	5455609		2066	4192	6258	SO:0001583	missense	148066	exon1			CCTCGCGTCCTGG	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.107G>A	19.37:g.5455609G>A	ENSP00000222033:p.Arg36His	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	108	11	NM_181710	0	0	0	0	0	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	g	1.879	-0.458450	0.04508	.	.	ENSG00000105428	ENST00000222033	T	0.04603	3.59	2.25	-4.49	0.03504	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.28530	T	0.3	.	3.4425	0.07469	0.1682:0.2313:0.4709:0.1296	.	36	Q8WWF5	ZNRF4_HUMAN	H	36	ENSP00000222033:R36H	ENSP00000222033:R36H	R	+	2	0	ZNRF4	5406609	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.345000	0.02637	-3.243000	0.00206	-2.180000	0.00316	CGT	.		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		A	5455609	G	A	5455609	3	1	13	1	0	0	0	0	1	0	0	0	18262	1145	40	1	109	1	ZNRF4	19	5455609	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	931593	5455609	53673374	130	3098											
RDH8	50700	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	10127866	10127866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccagtgtctcagctgTatccagggagaagtggacgt	15	9	1	1	rs2233793	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:10127866T>G	ENST00000171214.1	+	2	486	c.237T>G	c.(235-237)tgT>tgG	p.C79W	RDH8_ENST00000591589.1_Missense_Mutation_p.C99W	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	79					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTCTCAGCTGTATCCAGGGAG	0.592																																					p.C99W		.											.	RDH8-94	0			c.T297G						.						78	69	72					19																	10127866		2203	4300	6503	SO:0001583	missense	50700	exon2			CAGCTGTATCCAG	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.237T>G	19.37:g.10127866T>G	ENSP00000171214:p.Cys79Trp	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	146	25	NM_015725	0	0	0	0	0	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	T	13.98	2.400322	0.42613	.	.	ENSG00000080511	ENST00000171214	D	0.87334	-2.24	4.77	-0.279	0.12890	NAD(P)-binding domain (1);	0.664409	0.15841	N	0.242012	T	0.66934	0.2840	N	0.02842	-0.48	0.30636	N	0.757016	P	0.40931	0.733	B	0.40199	0.322	T	0.66956	-0.5792	10	0.42905	T	0.14	.	5.2421	0.15477	0.0:0.5754:0.1515:0.2731	.	79	Q9NYR8	RDH8_HUMAN	W	79	ENSP00000171214:C79W	ENSP00000171214:C79W	C	+	3	2	RDH8	9988866	0.205000	0.23458	0.996000	0.52242	0.866000	0.49608	1.066000	0.30604	0.432000	0.26286	-0.177000	0.13119	TGT	T|0.968;C|0.032		0.592	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				G	10127866	T	G	10127866	3	3	13	1	0	0	0	0	1	0	0	0	13241	1644	57	5	243	5	RDH8	19	10127866	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	4672257	10127866	49001117	131	3099											
PSMD8	5714	hgsc.bcm.edu	37	chr19	38865440	38865440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacgcaagatggcggccGcggcggtgaacggggcggca	18	12	1	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:38865440G>T	ENST00000215071.4	+	1	265	c.199G>T	c.(199-201)Gcg>Tcg	p.A67S	PSMD8_ENST00000602911.1_Missense_Mutation_p.A4S|PSMD8_ENST00000592035.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	67					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGGCGGCCGCGGCGGTGAA	0.701																																					p.A67S		.											.	PSMD8-68	0			c.G199T						.						5	5	5					19																	38865440		2115	4138	6253	SO:0001583	missense	5714	exon1			GCGGCCGCGGCGG	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"Proteasome (prosome, macropain) subunits"	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.199G>T	19.37:g.38865440G>T	ENSP00000215071:p.Ala67Ser	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_002812	0	0	57	57	0	B4DX18|Q6P1L7	Missense_Mutation	SNP	ENST00000215071.4	37	CCDS12515.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910390	0.52439	.	.	ENSG00000099341	ENST00000215071	.	.	.	4.61	-1.4	0.08968	.	.	.	.	.	T	0.41604	0.1166	L	0.36672	1.1	0.53688	D	0.999979	B	0.21821	0.061	B	0.26416	0.069	T	0.11817	-1.0572	8	0.21540	T	0.41	-25.3606	8.1642	0.31217	0.437:0.0:0.563:0.0	.	67	P48556	PSMD8_HUMAN	S	67	.	ENSP00000215071:A67S	A	+	1	0	PSMD8	43557280	0.145000	0.22656	0.216000	0.23742	0.671000	0.39405	0.676000	0.25247	-0.207000	0.10187	-0.355000	0.07637	GCG	.		0.701	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		T	38865440	G	T	38865440	3	4	13	1	0	0	0	0	1	0	0	0	12746	1087	38	2	201	2	PSMD8	19	38865440	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	28737574	38865440	20263543	132	3100											
GGN	199720	hgsc.bcm.edu	37	chr19	38876758	38876758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaggcccagagagtgCggccgcacgccgtcgcggcg	16	17	0	1	rs74911931	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:38876758C>T	ENST00000334928.6	-	3	1276	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	382	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGAGAGTGCGGCCGCACGC	0.726													C|||	81	0.0161741	0.0318	0.0029	5008	,	,		11625	0.0337		0.001	False		,,,				2504	0.002				p.A382T		.											.	GGN-90	0			c.G1144A						.	C	THR/ALA	124,4198		1,122,2038	15	18	17		1144	1.1	0.4	19	dbSNP_131	17	14,8434		0,14,4210	yes	missense	GGN	NM_152657.3	58	1,136,6248	TT,TC,CC		0.1657,2.869,1.0807	benign	382/653	38876758	138,12632	2161	4224	6385	SO:0001583	missense	199720	exon3			AGAGTGCGGCCGC	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1144G>A	19.37:g.38876758C>T	ENSP00000334940:p.Ala382Thr	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	33	21	NM_152657	0	0	0	2	2	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	40	0.018315018315018316	20	0.04065040650406504	1	0.0027624309392265192	19	0.033216783216783216	0	0.0	C	3.754	-0.051014	0.07407	0.02869	0.001657	ENSG00000179168	ENST00000334928	.	.	.	3.33	1.14	0.20703	.	0.711812	0.11524	N	0.555392	T	0.03178	0.0093	N	0.08118	0	0.09310	N	0.999998	B;B	0.15719	0.001;0.014	B;B	0.08055	0.002;0.003	T	0.27706	-1.0066	9	0.10902	T	0.67	-1.5501	5.0791	0.14647	0.0:0.6991:0.0:0.3009	.	299;382	Q86UU5-2;Q86UU5	.;GGN_HUMAN	T	382	.	ENSP00000334940:A382T	A	-	1	0	GGN	43568598	0.087000	0.21565	0.378000	0.26068	0.149000	0.21700	0.191000	0.17076	0.119000	0.18210	-0.369000	0.07265	GCA	C|0.982;T|0.018		0.726	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		T	38876758	C	T	38876758	3	4	13	1	0	0	0	0	1	0	0	0	6384	768	27	1	822	1	GGN	19	38876758	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	11318	38876758	20252225	133	3101											
CIC	23152	broad.mit.edu;bcgsc.ca	37	chr19	42795085	42795085	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtgcctgggggctcccCgctgggtgtcagcttagtgt	17	11	1	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:42795085C>G	ENST00000575354.2	+	10	2205	c.2165C>G	c.(2164-2166)cCg>cGg	p.P722R	CIC_ENST00000572681.2_Missense_Mutation_p.P1631R|CIC_ENST00000160740.3_Missense_Mutation_p.P722R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGGCTCCCCGCTGGGTGTC	0.642			"Mis, F, S"		oligodendroglioma																																p.P722R		.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC-591	0			c.C2165G						.						26	27	26					19																	42795085		2201	4290	6491	SO:0001583	missense	23152	exon10			GCTCCCCGCTGGG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2165C>G	19.37:g.42795085C>G	ENSP00000458663:p.Pro722Arg	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	170	8	NM_015125	0	0	9	10	1	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484964	0.26598	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.3	1.74	0.24563	.	.	.	.	.	T	0.19046	0.0457	N	0.14661	0.345	0.26401	N	0.976423	B	0.24675	0.109	B	0.15870	0.014	T	0.18116	-1.0347	8	0.87932	D	0	-13.3579	4.743	0.13024	0.155:0.6093:0.1504:0.0853	.	722	Q96RK0	CIC_HUMAN	R	722	.	ENSP00000160740:P722R	P	+	2	0	CIC	47486925	0.729000	0.28090	0.554000	0.28268	0.977000	0.68977	1.981000	0.40628	0.595000	0.29777	0.561000	0.74099	CCG	.		0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			G	42795085	C	G	42795085	3	3	13	1	0	0	0	0	1	0	0	0	3431	652	23	2	2203	2	CIC	19	42795085	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	3918327	42795085	16333898	134	3102											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_000960	0	0	0	2	2		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	13	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	4332239	47127324	12001659	135	3103											
RASIP1	54922	hgsc.bcm.edu	37	chr19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagccgggccaggcGgcccagcagtcgtggcaggt	17	12	0	2	rs2287922	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2	3	3		1801	4.2	1	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_017805	0	0	3	8	5	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49232226	G	A	49232226	3	1	13	1	0	0	0	0	1	0	0	0	13123	1116	39	1	1122	1	RASIP1	19	49232226	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	2104902	49232226	9896757	136	3104											
KIR3DL2	3812	broad.mit.edu;bcgsc.ca	37	chr19	55378056	55378056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catacagagaaaaatcagtcGcccttctcagaggcccaaga	8	12	2	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:55378056G>T	ENST00000326321.3	+	9	1271	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R413L|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R396L|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	413					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R413L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAATCAGTCGCCCTTCTCAG	0.517																																					p.R413L		.											.	KIR3DL2-92	2	Substitution - Missense(2)	lung(2)	c.G1238T						.						266	259	261					19																	55378056		2203	4300	6503	SO:0001583	missense	3812	exon9			TCAGTCGCCCTTC	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1238G>T	19.37:g.55378056G>T	ENSP00000325525:p.Arg413Leu	Somatic	181	1		WXS	Illumina GAIIx	Phase_I	279	8	NM_006737	0	0	0	0	0	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702295	0.15172	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00482	7.2;7.17;7.1	1.59	-0.883	0.10600	.	.	.	.	.	T	0.01029	0.0034	M	0.79805	2.47	0.09310	N	1	B;D;D	0.71674	0.095;0.997;0.998	B;D;D	0.79784	0.081;0.985;0.993	T	0.49254	-0.8959	9	0.87932	D	0	.	2.5759	0.04806	0.0:0.4307:0.3345:0.2348	.	396;413;413	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	L	413;413;396	ENSP00000384528:R413L;ENSP00000325525:R413L;ENSP00000270442:R396L	ENSP00000384528:R413L	R	+	2	0	KIR3DL1;KIR3DL2	60069868	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.536000	0.06135	0.027000	0.15297	-0.751000	0.03497	CGC	.		0.517	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			T	55378056	G	T	55378056	3	4	13	1	0	0	0	0	1	0	0	0	8348	1087	38	2	1272	2	KIR3DL2	19	55378056	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	6145830	55378056	3750927	137	3105											
ZNF814	730051	ucsc.edu	37	chr19	58384712	58384712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataaggtctttctccagtAtggccatgctggtgtagaat	10	8	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr19:58384712A>G	ENST00000435989.2	-	3	2280	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	682					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCTCCAGTATGGCCATGCT	0.408																																					p.H682H		.											.	.	0			c.T2046C						.						68	57	60					19																	58384712		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TCCAGTATGGCCA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2046T>C	19.37:g.58384712A>G		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	224	1	NM_001144989	0	0	6	8	2	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384712	A	G	58384712	2	3	13	1	0	0	0	0	0	0	0	1	18224	446	16	4		4	ZNF814	19	58384712	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	3006656	58384712	744271	138	3106											
RBM12	10137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	34242149	34242149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacatagcgttgaatcatcaGcattctgtttcgtttcaaag	7	9	4	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:34242149G>C	ENST00000374114.3	-	3	1359	c.1096C>G	c.(1096-1098)Ctg>Gtg	p.L366V	CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.L366V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.L366V|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	366	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGAATCATCAGCATTCTGTTT	0.423											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L366V		.											.	RBM12-93	0			c.C1096G						.						175	167	170					20																	34242149		2203	4300	6503	SO:0001583	missense	10137	exon2			TCATCAGCATTCT	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1096C>G	20.37:g.34242149G>C	ENSP00000363228:p.Leu366Val	Somatic	50	0	846	WXS	Illumina GAIIx	Phase_I	72	11	NM_001198840	0	0	10	15	5	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638181	0.29157	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.06294	3.32;3.32;3.32	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.080477	0.51477	D	0.000100	T	0.09905	0.0243	L	0.34521	1.04	0.80722	D	1	B	0.23891	0.093	B	0.38880	0.284	T	0.37502	-0.9703	10	0.24483	T	0.36	-3.3643	18.0823	0.89444	0.0:0.0:1.0:0.0	.	366	Q9NTZ6	RBM12_HUMAN	V	366;366;366;165	ENSP00000363228:L366V;ENSP00000352668:L366V;ENSP00000363217:L366V	ENSP00000339879:L165V	L	-	1	2	RBM12	33705563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.477000	0.73591	2.494000	0.84150	0.549000	0.68633	CTG	.		0.423	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		C	34242149	G	C	34242149	3	2	13	1	0	0	0	0	1	0	0	0	13158	962	34	3	1706	3	RBM12	20	34242149	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10		34242149	28783371	139	3107											
KIAA0406	9675	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	36641454	36641454	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttttgcttggacctttgaGattcttttgagctgttcatc	10	7	2	2	rs149287636		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:36641454G>T	ENST00000373448.2	-	3	1003	c.765C>A	c.(763-765)atC>atA	p.I255I	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.I255I|TTI1_ENST00000449821.1_Silent_p.I255I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	255					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						GGACCTTTGAGATTCTTTTGA	0.428																																					p.I255I		.											.	TTI1-94	0			c.C765A						.						180	180	180					20																	36641454		2203	4300	6503	SO:0001819	synonymous_variant	9675	exon3			CTTTGAGATTCTT	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.765C>A	20.37:g.36641454G>T		Somatic	64	1		WXS	Illumina GAIIx	Phase_I	81	17	NM_014657	0	0	1	2	1	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																			G|1.000;A|0.000		0.428	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36641454	G	T	36641454	2	4	13	1	0	0	0	0	0	0	0	1	8200	932	33	3		3	KIAA0406	20	36641454	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	2399305	36641454	26384066	140	3108											
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	39831045	39831045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaatgaccagtagccCtggtgggaagttgcctcgct	15	10	0	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:39831045C>G	ENST00000309060.3	-	4	2927	c.2512G>C	c.(2512-2514)Ggg>Cgg	p.G838R	ZHX3_ENST00000432768.2_Missense_Mutation_p.G838R|ZHX3_ENST00000544979.2_Missense_Mutation_p.G838R|ZHX3_ENST00000560361.1_Missense_Mutation_p.G838R|ZHX3_ENST00000559234.1_Missense_Mutation_p.G838R|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.G838R|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	838					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)				ACCAGTAGCCCTGGTGGGAAG	0.537																																					p.G838R		.											.	ZHX3-93	0			c.G2512C						.						144	138	140					20																	39831045		2203	4300	6503	SO:0001583	missense	23051	exon3			GTAGCCCTGGTGG	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.2512G>C	20.37:g.39831045C>G	ENSP00000312222:p.Gly838Arg	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	208	94	NM_015035	0	0	9	24	15	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498122|2.498122	0.44455|0.44455	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.12879|.	2.81;2.81;2.64|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.132904|.	0.49916|.	D|.	0.000126|.	T|T	0.71837|0.71837	0.3387|0.3387	M|M	0.66939|0.66939	2.045|2.045	0.51012|0.51012	D|D	0.999903|0.999903	D;D;D|.	0.67145|.	0.996;0.992;0.994|.	D;P;D|.	0.66602|.	0.945;0.798;0.921|.	T|T	0.69672|0.69672	-0.5082|-0.5082	10|5	0.72032|.	D|.	0.01|.	-25.6718|-25.6718	13.7909|13.7909	0.63140|0.63140	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	838;838;838|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	R|T	838;838;838;838;616|546	ENSP00000362360:G838R;ENSP00000442290:G838R;ENSP00000443783:G838R|.	ENSP00000312222:G838R|.	G|R	-|-	1|2	0|0	ZHX3|ZHX3	39264459|39264459	0.726000|0.726000	0.28059|0.28059	0.995000|0.995000	0.50966|0.50966	0.326000|0.326000	0.28443|0.28443	3.575000|3.575000	0.53870|0.53870	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGG|AGG	.		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		G	39831045	C	G	39831045	3	3	13	1	0	0	0	0	1	0	0	0	17725	681	24	3	366	3	ZHX3	20	39831045	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	3189591	39831045	23194475	141	3109											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348735	43348735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcaggacccggtggCcggggggccctgtgcctctg	19	15	1	0	rs2296530	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_003881	0	0	16	25	9	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	13	1	0	0	0	0	0	0	0	1	17422	726	26	3		3	WISP2	20	43348735	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	3517690	43348735	19676785	142	3110											
SEMG1	6406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43836226	43836226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacataagacgacaaaatcAcaacgacatctaggtggaag	8	9	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:43836226A>G	ENST00000372781.3	+	2	345	c.288A>G	c.(286-288)tcA>tcG	p.S96S	SEMG1_ENST00000244069.6_Silent_p.S96S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	96	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CGACAAAATCACAACGACATC	0.378																																					p.S96S		.											.	SEMG1-92	0			c.A288G						.						148	128	135					20																	43836226		2203	4300	6503	SO:0001819	synonymous_variant	6406	exon2			AAAATCACAACGA		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.288A>G	20.37:g.43836226A>G		Somatic	184	0		WXS	Illumina GAIIx	Phase_I	246	116	NM_003007	0	0	0	0	0	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	CCDS13345.1																																																																																			.		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		G	43836226	A	G	43836226	2	3	13	1	0	0	0	0	0	0	0	1	14089	146	6	4		4	SEMG1	20	43836226	Silent	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	487491	43836226	19189294	143	3111											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000372630.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_052951	0	0	0	7	7	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	13	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	584456	44420682	18604838	144	3112											
SULF2	55959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	46290611	46290611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtagctggttgaggacatcCctgtccagtgtgttcactgc	12	10	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:46290611C>G	ENST00000359930.4	-	18	3251	c.2400G>C	c.(2398-2400)agG>agC	p.R800S	SULF2_ENST00000361612.4_Missense_Mutation_p.R800S|SULF2_ENST00000484875.1_Missense_Mutation_p.R800S|SULF2_ENST00000467815.1_Missense_Mutation_p.R800S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	800					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGAGGACATCCCTGTCCAGTG	0.527																																					p.R800S		.											.	SULF2-293	0			c.G2400C						.						186	140	156					20																	46290611		2203	4300	6503	SO:0001583	missense	55959	exon18			GACATCCCTGTCC	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2400G>C	20.37:g.46290611C>G	ENSP00000353007:p.Arg800Ser	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	242	93	NM_001161841	1	1	334	710	374	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.890992|2.890992	0.52014|0.52014	.|.	.|.	ENSG00000196562|ENSG00000196562	ENST00000495544|ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	.|D;D;D;D	.|0.96232	.|-3.95;-3.95;-3.95;-3.95	5.55|5.55	1.01|1.01	0.19927|0.19927	.|Alkaline-phosphatase-like, core domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95392|0.95392	0.8504|0.8504	L|L	0.41906|0.41906	1.305|1.305	0.45035|0.45035	D|D	0.998057|0.998057	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.994	D|D	0.91353|0.91353	0.5106|0.5106	5|10	.|0.16896	.|T	.|0.51	-27.6784|-27.6784	7.5384|7.5384	0.27723|0.27723	0.0:0.4914:0.0:0.5086|0.0:0.4914:0.0:0.5086	.|.	.|800;800	.|Q8IWU5-2;Q8IWU5	.|.;SULF2_HUMAN	A|S	155|800;800;800;219;800	.|ENSP00000353007:R800S;ENSP00000418290:R800S;ENSP00000354662:R800S;ENSP00000418442:R800S	.|ENSP00000353007:R800S	G|R	-|-	2|3	0|2	SULF2|SULF2	45724018|45724018	0.074000|0.074000	0.21230|0.21230	0.982000|0.982000	0.44146|0.44146	0.500000|0.500000	0.33767|0.33767	-0.599000|-0.599000	0.05700|0.05700	0.318000|0.318000	0.23185|0.23185	0.462000|0.462000	0.41574|0.41574	GGG|AGG	.		0.527	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		G	46290611	C	G	46290611	3	3	13	1	0	0	0	0	1	0	0	0	15418	622	22	3	228	3	SULF2	20	46290611	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	1869929	46290611	16734909	145	3113											
APCDD1L	164284	hgsc.bcm.edu	37	chr20	57042377	57042377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcccgggcgctccgcaGctcgtacagcgccccaggca	13	18	0	1	rs6128351	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr20:57042377G>A	ENST00000371149.3	-	3	756	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	APCDD1L_ENST00000439429.1_Silent_p.L187L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	176						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCGCTCCGCAGCTCGTACAGC	0.781													G|||	181	0.0361422	8e-04	0.049	5008	,	,		8501	0.1329		0	False		,,,				2504	0.0123				p.L176L		.											.	APCDD1L-227	0			c.C526T						.						2	2	2					20																	57042377		1433	3021	4454	SO:0001819	synonymous_variant	164284	exon3			TCCGCAGCTCGTA	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.526C>T	20.37:g.57042377G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_153360	0	0	0	0	0		Silent	SNP	ENST00000371149.3	37	CCDS13467.1																																																																																			G|0.973;A|0.027		0.781	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		A	57042377	G	A	57042377	2	1	13	1	0	0	0	0	0	0	0	1	766	962	34	3		3	APCDD1L	20	57042377	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	10751766	57042377	5983143	146	3114											
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	10914373	10914373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctcttaccgaacattttCctaatgaaatagtggaaaag	6	7	1	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr21:10914373C>T	ENST00000361285.4	-	21	1675	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.G431E|TPTE_ENST00000342420.5_Missense_Mutation_p.G411E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	449	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)		CGAACATTTTCCTAATGAAAT	0.318																																					p.G449E		.											.	TPTE-344	0			c.G1346A						.						73	65	68					21																	10914373		2203	4298	6501	SO:0001583	missense	7179	exon21			CATTTTCCTAATG	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.1346G>A	21.37:g.10914373C>T	ENSP00000355208:p.Gly449Glu	Somatic	286	0		WXS	Illumina GAIIx	Phase_I	258	19	NM_199261	0	0	0	0	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	2.638	-0.284834	0.05605	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84660	-1.88;-1.88;-1.88	2.15	-2.7	0.06004	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.681037	0.15081	U	0.281656	T	0.67534	0.2903	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.16289	0.015;0.015;0.012	T	0.51148	-0.8742	10	0.27082	T	0.32	-1.8607	3.026	0.06091	0.0:0.3276:0.24:0.4324	.	411;431;449	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	431;449;411	ENSP00000298232:G431E;ENSP00000355208:G449E;ENSP00000344441:G411E	ENSP00000298232:G431E	G	-	2	0	TPTE	9936244	0.001000	0.12720	0.000000	0.03702	0.097000	0.18754	-0.145000	0.10265	-0.575000	0.05982	0.184000	0.17185	GGA	.		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10914373	C	T	10914373	3	4	13	1	0	0	0	0	1	0	0	0	16478	855	30	3	325	3	TPTE	21	10914373	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		10914373	37215522	147	3115											
UMODL1	89766	ucsc.edu;bcgsc.ca	37	chr21	43547814	43547814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacatacaccaacgtgaTtgagaacggcaactccaata	6	12	0	2			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr21:43547814T>C	ENST00000408910.2	+	20	3563	c.3563T>C	c.(3562-3564)aTt>aCt	p.I1188T	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.I1244T|UMODL1_ENST00000400424.2_Missense_Mutation_p.I1116T|UMODL1_ENST00000408989.2_Missense_Mutation_p.I1316T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1188	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACCAACGTGATTGAGAACGGC	0.517																																					p.I1316T	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	0			c.T3947C						.						95	94	94					21																	43547814		2023	4201	6224	SO:0001583	missense	89766	exon19			ACGTGATTGAGAA		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.3563T>C	21.37:g.43547814T>C	ENSP00000386147:p.Ile1188Thr	Somatic	163	3		WXS	Illumina GAIIx	Phase_I	148	124	NM_173568	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563337	0.27915	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.67	3.67	0.42095	Zona pellucida sperm-binding protein (3);	0.163924	0.28268	N	0.015971	D	0.86698	0.5995	L	0.49513	1.565	0.24885	N	0.992208	D;D	0.76494	0.998;0.999	D;D	0.70016	0.961;0.967	T	0.77948	-0.2396	9	.	.	.	-29.9057	11.9248	0.52812	0.0:0.0:0.0:1.0	.	1316;1188	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	1244;1116;1316;1188;73	ENSP00000383279:I1244T;ENSP00000383276:I1116T;ENSP00000386126:I1316T;ENSP00000386147:I1188T	.	I	+	2	0	UMODL1	42420883	0.997000	0.39634	0.659000	0.29680	0.054000	0.15201	4.465000	0.60141	1.905000	0.55150	0.459000	0.35465	ATT	.		0.517	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43547814	T	C	43547814	3	2	13	1	0	0	0	0	1	0	0	0	17029	1493	52	4	4021	4	UMODL1	21	43547814	Missense_Mutation	SNP	T	TCGA-OR-A5JF-01A-11D-A29I-10	32633441	43547814	4582081	148	3116											
KRTAP12-2	353323	bcgsc.ca	37	chr21	46086377	46086377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagcagcaggaagAgatactgtaggagatgggtc	14	7	2	2	rs2838622	byFrequency	TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr21:46086377A>G	ENST00000360770.3	-	1	467	c.427T>C	c.(427-429)Tct>Cct	p.S143P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	143			S -> P (in dbSNP:rs2838622).			keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGCAGGAAGAGATACTGTAG	0.602													G|||	2918	0.582668	0.6967	0.5403	5008	,	,		19253	0.5655		0.492	False		,,,				2504	0.5695				p.S143P		.											.	.	0			c.T427C						.	G	,PRO/SER	2893,1387		1004,885,251	54	59	57		,427	1.8	0	21	dbSNP_100	57	3867,4609		924,2019,1295	yes	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,74	1928,2904,1546	GG,GA,AA		45.6229,32.4065,47.0053	,benign	,143/147	46086377	6760,5996	2140	4238	6378	SO:0001583	missense	353323	exon1			AGGAAGAGATACT	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.427T>C	21.37:g.46086377A>G	ENSP00000354001:p.Ser143Pro	Somatic	363	5		WXS	Illumina GAIIx	Phase_I	345	11	NM_181684	0	0	0	0	0	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	CCDS42965.1	1234	0.565018315018315	353	0.717479674796748	203	0.5607734806629834	303	0.5297202797202797	375	0.4947229551451187	g	0.003	-2.494097	0.00159	0.675935	0.456229	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.02067	4.47	3.62	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	8	0.02654	T	1	.	5.8109	0.18465	0.3543:0.0:0.6457:0.0	rs2838622;rs61048872;rs2838622	143	P59991	KR122_HUMAN	P	143;93	ENSP00000354001:S143P	ENSP00000354001:S143P	S	-	1	0	KRTAP12-2	44910805	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	-0.301000	0.08232	-0.049000	0.13379	-0.355000	0.07637	TCT	A|0.429;G|0.571		0.602	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		G	46086377	A	G	46086377	3	3	13	1	0	0	0	0	1	0	0	0	8546	304	11	4	17	4	KRTAP12-2	21	46086377	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	2538563	46086377	2043518	149	3117											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G													gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc					rs759610		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	13	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		20780091	30524475	150	3118	22	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C													tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt					rs759609		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	13	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	6	20780097	30524469	151	3119	22	2									
SREBF2	6721	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	42262853	42262854	+	Frame_Shift_Ins	INS	-	-	T													gagatgctgcaatttgtcagINStaatcaagtgggagagttcc							TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chr22:42262853_42262854insT	ENST00000361204.4	+	2	273_274	c.107_108insT	c.(106-111)agtaatfs	p.N37fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	37	Transcriptional activation (acidic).				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAATTTGTCAGTAATCAAGTGG	0.431																																					p.S36fs		.											.	SREBF2-154	0			c.107_108insT						.																																			SO:0001589	frameshift_variant	6721	exon2			TTGTCAGTAATCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.108dupT	22.37:g.42262854_42262854dupT	ENSP00000354476:p.Asn37fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	84	22	NM_004599	0	0	0	0	0	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	CCDS14023.1																																																																																			.		0.431	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42262854	-	T	42262853	7	5	13	1	0	1	1	0	0	0	0	0	15189	1029	36	0	113	0	SREBF2	22	42262853	Frame_Shift_Ins	INS	-	TCGA-OR-A5JF-01A-11D-A29I-10	21482756	42262853	9041713	152	3120											
ACOT9	23597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23754092	23754092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggggtccttgagtcagtCctcttccaggagtaagctgc	12	11	3	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:23754092C>T	ENST00000336430.7	-	2	193	c.62G>A	c.(61-63)gGa>gAa	p.G21E	ACOT9_ENST00000379303.5_Missense_Mutation_p.G21E|ACOT9_ENST00000492081.1_Intron|ACOT9_ENST00000379295.1_5'UTR	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	21					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TTGAGTCAGTCCTCTTCCAGG	0.478																																					p.G21E		.											.	ACOT9-133	0			c.G62A						.						251	209	223					X																	23754092		2203	4300	6503	SO:0001583	missense	23597	exon2			GTCAGTCCTCTTC	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.62G>A	X.37:g.23754092C>T	ENSP00000336580:p.Gly21Glu	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	210	93	NM_001037171	0	0	24	24	0	B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631569	0.46944	.	.	ENSG00000123130	ENST00000379303;ENST00000336430	T;T	0.30714	1.52;1.54	4.69	2.72	0.32119	.	0.430348	0.23360	N	0.049038	T	0.29716	0.0742	L	0.51422	1.61	0.80722	D	1	P;D	0.53462	0.651;0.96	B;P	0.51229	0.153;0.663	T	0.28490	-1.0042	10	0.02654	T	1	-17.7669	9.5945	0.39565	0.0:0.5898:0.4102:0.0	.	21;21	Q9Y305;Q9Y305-4	ACOT9_HUMAN;.	E	21	ENSP00000368605:G21E;ENSP00000336580:G21E	ENSP00000336580:G21E	G	-	2	0	ACOT9	23664013	0.999000	0.42202	1.000000	0.80357	0.415000	0.31203	1.112000	0.31172	1.049000	0.40321	0.538000	0.68166	GGA	.		0.478	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		T	23754092	C	T	23754092	3	4	13	1	0	0	0	0	1	0	0	0	157	855	30	3	1344	3	ACOT9	23	23754092	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10		23754092	131516468	153	3121											
CXorf38	159013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	40496395	40496395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagtgcatgatctcattaCgacatttaattacctgcaga	7	8	1	3	rs376500009		TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:40496395C>T	ENST00000327877.5	-	4	511	c.485G>A	c.(484-486)cGt>cAt	p.R162H	CXorf38_ENST00000440784.2_Missense_Mutation_p.R77H|CXorf38_ENST00000378421.1_Missense_Mutation_p.R43H|CXorf38_ENST00000378426.1_Missense_Mutation_p.R43H	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	162										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GATCTCATTACGACATTTAAT	0.338																																					p.R162H		.											.	CXorf38-131	0			c.G485A						.	C	HIS/ARG	0,3833		0,0,1631,571	41	37	38		485	4.8	1	X		38	1,6722		0,1,2425,1871	no	missense	CXorf38	NM_144970.2	29	0,1,4056,2442	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	162/320	40496395	1,10555	2202	4297	6499	SO:0001583	missense	159013	exon4			TCATTACGACATT	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.485G>A	X.37:g.40496395C>T	ENSP00000330488:p.Arg162His	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	89	33	NM_144970	0	0	21	21	0	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814126	0.70912	0.0	1.49E-4	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.84	4.84	0.62591	.	0.233120	0.31884	N	0.006917	T	0.80276	0.4593	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82812	-0.0272	10	0.87932	D	0	-0.359	15.779	0.78246	0.0:1.0:0.0:0.0	.	77;162	E7EN46;Q8TB03	.;CX038_HUMAN	H	43;162;43;77	ENSP00000367683:R43H;ENSP00000330488:R162H;ENSP00000367677:R43H;ENSP00000400019:R77H	ENSP00000330488:R162H	R	-	2	0	CXorf38	40381339	1.000000	0.71417	0.998000	0.56505	0.685000	0.39939	4.934000	0.63491	2.238000	0.73509	0.422000	0.28245	CGT	.		0.338	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		T	40496395	C	T	40496395	3	4	13	1	0	0	0	0	1	0	0	0	4116	536	19	1	486	1	CXorf38	23	40496395	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	16742303	40496395	114774165	154	3122											
USP51	158880	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	55515272	55515272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctccattttccccGccttctcaaccgcctcctca	3	23	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:55515272G>A	ENST00000500968.3	-	2	183	c.101C>T	c.(100-102)gCg>gTg	p.A34V	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	34					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATTTTCCCCGCCTTCTCAAC	0.642																																					p.A34V		.											.	USP51-659	0			c.C101T						.						15	16	16					X																	55515272		2191	4287	6478	SO:0001583	missense	158880	exon2			TTCCCCGCCTTCT	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.101C>T	X.37:g.55515272G>A	ENSP00000423333:p.Ala34Val	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	79	9	NM_201286	0	0	5	5	0	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.960658	0.34565	.	.	ENSG00000247746	ENST00000500968	T	0.14391	2.51	2.37	1.41	0.22369	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.20074	N	0.999938	P	0.48764	0.915	B	0.27796	0.083	T	0.33266	-0.9875	9	0.87932	D	0	.	5.411	0.16349	0.0:0.0:0.6677:0.3323	.	34	Q70EK9	UBP51_HUMAN	V	34	ENSP00000423333:A34V	ENSP00000423333:A34V	A	-	2	0	USP51	55531997	0.285000	0.24296	0.696000	0.30242	0.586000	0.36452	0.866000	0.27954	0.382000	0.24878	0.431000	0.28591	GCG	.		0.642	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		A	55515272	G	A	55515272	3	1	13	1	0	0	0	0	1	0	0	0	17132	1087	38	1	2038	1	USP51	23	55515272	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	15018877	55515272	99755288	155	3123											
TAF1	6872	broad.mit.edu;bcgsc.ca	37	chrX	70674672	70674672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagaattagaaagcCtggacccaatgaccccaggg	12	10	0	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:70674672C>A	ENST00000373790.4	+	34	4951	c.4900C>A	c.(4900-4902)Ctg>Atg	p.L1634M	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.L1634M|TAF1_ENST00000423759.1_Missense_Mutation_p.L1655M|TAF1_ENST00000276072.3_Missense_Mutation_p.L1655M	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1634	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTAGAAAGCCTGGACCCAAT	0.423																																					p.L1655M		.											.	TAF1-900	0			c.C4963A						.						61	57	58					X																	70674672		2203	4300	6503	SO:0001583	missense	6872	exon34			GAAAGCCTGGACC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4900C>A	X.37:g.70674672C>A	ENSP00000362895:p.Leu1634Met	Somatic	203	1		WXS	Illumina GAIIx	Phase_I	217	11	NM_004606	0	0	28	28	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692194	0.48202	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072	T;T;T;T	0.10192	2.9;3.02;2.97;2.91	5.04	0.814	0.18756	.	0.068459	0.56097	D	0.000021	T	0.19327	0.0464	L	0.42245	1.32	0.41718	D	0.989496	D;P;P;P	0.76494	0.999;0.911;0.917;0.95	D;P;P;P	0.79108	0.992;0.702;0.603;0.776	T	0.00918	-1.1515	10	0.33141	T	0.24	.	9.0061	0.36113	0.0:0.5942:0.0:0.4058	.	288;1634;1634;1655	A5CVC9;P21675-4;P21675;P21675-2	.;.;TAF1_HUMAN;.	M	1634;1634;1655;340;1655	ENSP00000362895:L1634M;ENSP00000389000:L1634M;ENSP00000406549:L1655M;ENSP00000276072:L1655M	ENSP00000276072:L1655M	L	+	1	2	TAF1	70591397	0.958000	0.32768	0.996000	0.52242	0.997000	0.91878	0.656000	0.24948	0.080000	0.16959	0.513000	0.50165	CTG	.		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70674672	C	A	70674672	3	1	13	1	0	0	0	0	1	0	0	0	15560	680	24	3	5097	3	TAF1	23	70674672	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	15159400	70674672	84595888	156	3124											
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	76875873	76875873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaactcacactcaattagGttattttgaagtggtgttcc	7	7	2	1			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:76875873G>T	ENST00000373344.5	-	20	5476	c.5262C>A	c.(5260-5262)aaC>aaA	p.N1754K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1716K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1754	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACTCAATTAGGTTATTTTGAA	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.N1754K		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX-248	1	Unknown(1)	bone(1)	c.C5262A	GRCh37	CM081519	ATRX	M		.						82	70	74					X																	76875873		2201	4294	6495	SO:0001583	missense	546	exon20			AATTAGGTTATTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5262C>A	X.37:g.76875873G>T	ENSP00000362441:p.Asn1754Lys	Somatic	287	0		WXS	Illumina GAIIx	Phase_I	384	136	NM_000489	0	0	0	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.470875|3.470875	0.63625|0.63625	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.94000|.	-3.33;-3.33|.	4.57|4.57	4.57|4.57	0.56435|0.56435	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67767|0.67767	0.2928|0.2928	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.69632|0.69632	-0.5093|-0.5093	10|5	0.66056|.	D|.	0.02|.	-8.9951|-8.9951	7.6576|7.6576	0.28383|0.28383	0.2096:0.0:0.7904:0.0|0.2096:0.0:0.7904:0.0	.|.	1716;1754|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	K|N	1754;1716|43	ENSP00000362441:N1754K;ENSP00000378967:N1716K|.	ENSP00000362441:N1754K|.	N|T	-|-	3|2	2|0	ATRX|ATRX	76762529|76762529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.113000|2.113000	0.41902|0.41902	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	AAC|ACC	.		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76875873	G	T	76875873	3	4	13	1	0	0	0	0	1	0	0	0	1209	1252	44	3	2280	3	ATRX	23	76875873	Missense_Mutation	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	6201201	76875873	78394687	157	3125											
PCDH11X	27328	broad.mit.edu	37	chrX	91090885	91090885	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactggttaagatacgttttCtgatagaagatataaatgat	9	3	1	5			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:91090885C>A	ENST00000373094.1	+	1	1227	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	PCDH11X_ENST00000373097.1_Missense_Mutation_p.L128M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L128M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.L128M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L128M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L128M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L128M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L128M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L128M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	128	Cadherin 1. {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						GATACGTTTTCTGATAGAAGA	0.373																																					p.L128M	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C382A						.						44	41	42					X																	91090885		2202	4276	6478	SO:0001583	missense	27328	exon1			CGTTTTCTGATAG	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.382C>A	X.37:g.91090885C>A	ENSP00000362186:p.Leu128Met	Somatic	240	1		WXS	Illumina GAIIx	Phase_I	342	57	NM_001168363	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307430	0.40795	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.66;0.67;0.6;0.67;0.65;0.65;0.68;0.67	4.44	-0.212	0.13169	Cadherin (2);	0.172870	0.38164	N	0.001793	T	0.55257	0.1909	L	0.45137	1.4	0.37349	D	0.910717	D;D;D;D;D;D;D;D	0.71674	0.997;0.99;0.998;0.998;0.998;0.996;0.997;0.996	D;D;D;D;D;D;D;D	0.72982	0.975;0.947;0.979;0.979;0.979;0.954;0.975;0.962	T	0.55970	-0.8056	10	0.49607	T	0.09	.	4.871	0.13633	0.4795:0.3448:0.0:0.1757	.	128;128;128;128;128;128;128;128	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	128	ENSP00000378746:L128M;ENSP00000362186:L128M;ENSP00000362189:L128M;ENSP00000355040:L128M;ENSP00000362180:L128M;ENSP00000423762:L128M;ENSP00000355105:L128M;ENSP00000384758:L128M;ENSP00000298274:L128M	ENSP00000298274:L128M	L	+	1	2	PCDH11X	90977541	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	0.604000	0.24164	0.000000	0.14550	-0.376000	0.06991	CTG	.		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91090885	C	A	91090885	3	1	13	1	0	0	0	0	1	0	0	0	11547	912	32	3	384	3	PCDH11X	23	91090885	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	14215012	91090885	64179675	158	3126											
ZMAT1	84460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101139569	101139569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctgcgtatgtccggAaagtctcaaatgggagtctt	13	7	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:101139569A>G	ENST00000372782.3	-	7	877	c.830T>C	c.(829-831)tTc>tCc	p.F277S	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.F106S|ZMAT1_ENST00000540921.1_Missense_Mutation_p.F277S	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	277						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						GTATGTCCGGAAAGTCTCAAA	0.403																																					p.F277S		.											.	ZMAT1-131	0			c.T830C						.						187	175	179					X																	101139569		2203	4300	6503	SO:0001583	missense	84460	exon7			GTCCGGAAAGTCT	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.830T>C	X.37:g.101139569A>G	ENSP00000361868:p.Phe277Ser	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	149	24	NM_001011657	0	0	15	16	1	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	A	1.808	-0.475394	0.04414	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27104	2.25;2.25;1.69	4.37	0.415	0.16411	.	0.751749	0.12036	N	0.505499	T	0.14056	0.0340	L	0.35487	1.065	0.09310	N	1	B	0.18310	0.027	B	0.14023	0.01	T	0.35101	-0.9802	10	0.13470	T	0.59	0.1087	3.4305	0.07426	0.5771:0.1996:0.2233:0.0	.	277	Q5H9K5	ZMAT1_HUMAN	S	277;277;106	ENSP00000361868:F277S;ENSP00000437529:F277S;ENSP00000413044:F106S	ENSP00000361868:F277S	F	-	2	0	ZMAT1	101026225	0.880000	0.30214	0.001000	0.08648	0.106000	0.19336	0.597000	0.24059	-0.030000	0.13804	0.437000	0.28790	TTC	.		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			G	101139569	A	G	101139569	3	3	13	1	0	0	0	0	1	0	0	0	17739	246	9	4	1090	4	ZMAT1	23	101139569	Missense_Mutation	SNP	A	TCGA-OR-A5JF-01A-11D-A29I-10	10048684	101139569	54130991	159	3127											
ALG13	79868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	110973752	110973752	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tactttggctatattctctaGagccagactatgaaacttca	6	9	2	3			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:110973752G>C	ENST00000394780.3	+	21	2413		c.e21-1		ALG13_ENST00000251943.4_Splice_Site|ALG13_ENST00000470971.1_Splice_Site	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ATATTCTCTAGAGCCAGACTA	0.338																																					.		.											.	ALG13-130	0			c.2090-1G>C						.						68	52	57					X																	110973752		1567	3578	5145	SO:0001630	splice_region_variant	79868	exon21			TCTCTAGAGCCAG	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2402-1G>C	X.37:g.110973752G>C		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	164	37	NM_001257230	0	0	0	0	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Splice_Site	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190850	0.58017	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4259	0.90608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG13	110860408	1.000000	0.71417	0.671000	0.29857	0.812000	0.45895	6.719000	0.74718	2.291000	0.77112	0.600000	0.82982	.	.		0.338	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	Intron	C	110973752	G	C	110973752	5	2	13	1	0	0	0	0	0	0	1	0	515	956	33	3	2625	3	ALG13	23	110973752	Splice_Site	SNP	G	TCGA-OR-A5JF-01A-11D-A29I-10	9834183	110973752	44296808	160	3128											
MAP7D3	79649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135303014	135303014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgtttttggctctttaCggacctggctggtaccatct	9	9	2	0			TCGA-OR-A5JF-01A-11D-A29I-10	TCGA-OR-A5JF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0c0a475a-8dd3-454a-a217-84368080e029	8c78352c-8bfd-4ff0-86e3-4bab48fd510c	g.chrX:135303014C>T	ENST00000316077.9	-	16	2616	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R764H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R781H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	799					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGGCTCTTTACGGACCTGGCT	0.388																																					p.R799H		.											.	MAP7D3-110	0			c.G2396A						.						253	227	235					X																	135303014		1835	4082	5917	SO:0001583	missense	79649	exon16			TCTTTACGGACCT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2396G>A	X.37:g.135303014C>T	ENSP00000318086:p.Arg799His	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	158	53	NM_024597	0	0	7	7	0	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759024	0.03019	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.17370	2.28;3.7;3.7;2.29	3.84	-7.68	0.01268	.	.	.	.	.	T	0.04048	0.0113	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35176	-0.9799	9	0.19147	T	0.46	2.1948	3.4315	0.07430	0.1116:0.388:0.1122:0.3881	.	781;758;799;764	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	764;799;781;758	ENSP00000359695:R764H;ENSP00000318086:R799H;ENSP00000359697:R781H;ENSP00000359694:R758H	ENSP00000318086:R799H	R	-	2	0	MAP7D3	135130680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.232000	0.01205	-2.400000	0.00579	-2.119000	0.00349	CGT	.		0.388	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135303014	C	T	135303014	3	4	13	1	0	0	0	0	1	0	0	0	9307	536	19	1	246	1	MAP7D3	23	135303014	Missense_Mutation	SNP	C	TCGA-OR-A5JF-01A-11D-A29I-10	24329262	135303014	19967546	161	3129											
HES3	390992	hgsc.bcm.edu	37	chr1	6305303	6305303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggtgcccgagagcgcCgccggcagcaccatggacag	14	17	0	1	rs61760837	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:6305303C>A	ENST00000377898.3	+	4	362	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	99	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCGAGAGCGCCGCCGGCAGCA	0.771													C|||	2792	0.557508	0.3079	0.7536	5008	,	,		7640	0.5615		0.6839	False		,,,				2504	0.6217				p.A99A		.											.	HES3-514	0			c.C297A						.	C		1446,1378		419,608,385	2	3	2		297	0.2	0	1	dbSNP_129	2	4876,1552		1960,956,298	no	coding-synonymous	HES3	NM_001024598.3		2379,1564,683	AA,AC,CC		24.1444,48.796,31.6688		99/187	6305303	6322,2930	1412	3214	4626	SO:0001819	synonymous_variant	390992	exon4			GAGCGCCGCCGGC		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.297C>A	1.37:g.6305303C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001024598	0	0	0	0	0	Q5TGS0	Silent	SNP	ENST00000377898.3	37	CCDS41238.1																																																																																			C|0.438;A|0.562		0.771	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305303	C	A	6305303	2	1	14	1	0	0	0	0	0	0	0	1	7094	639	23	2		2	HES3	1	6305303	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10		6305303	242945318	1	3130											
KIF1B	23095	broad.mit.edu	37	chr1	10351187	10351187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaacttgggaagagaaGcttcgtaaaacagaggccat	11	6	0	3			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:10351187G>T	ENST00000377086.1	+	16	1684	c.1482G>T	c.(1480-1482)aaG>aaT	p.K494N	KIF1B_ENST00000377081.1_Missense_Mutation_p.K494N|KIF1B_ENST00000377083.1_Missense_Mutation_p.K448N|KIF1B_ENST00000263934.6_Missense_Mutation_p.K448N|KIF1B_ENST00000377093.4_Missense_Mutation_p.K448N			O60333	KIF1B_HUMAN	kinesin family member 1B	494					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)		GGGAAGAGAAGCTTCGTAAAA	0.383																																					p.K448N		.											.	KIF1B-93	0			c.G1344T						.						83	86	85					1																	10351187		2203	4300	6503	SO:0001583	missense	23095	exon14			AGAGAAGCTTCGT	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.1482G>T	1.37:g.10351187G>T	ENSP00000366290:p.Lys494Asn	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_183416	0	0	0	0	0	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	18.43	3.622291	0.66787	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;D;T;D	0.83075	-1.38;-1.38;-1.67;-1.38;-1.68	5.17	1.48	0.22813	.	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.88640	2.97	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.997;0.98;0.986;0.985;0.996	D	0.89578	0.3818	10	0.87932	D	0	.	9.3895	0.38363	0.45:0.0:0.55:0.0	.	480;454;494;468;494;448;448	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	N	494;448;448;494;448;494	ENSP00000263934:K448N;ENSP00000366297:K448N;ENSP00000366290:K494N;ENSP00000366287:K448N;ENSP00000366284:K494N	ENSP00000263934:K448N	K	+	3	2	KIF1B	10273774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.094000	0.30951	0.369000	0.24510	-0.345000	0.07892	AAG	.		0.383	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10351187	G	T	10351187	3	4	14	1	0	0	0	0	1	0	0	0	8311	962	34	3	1394	3	KIF1B	1	10351187	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	4045884	10351187	238899434	2	3131											
TMCO4	255104	bcgsc.ca	37	chr1	20009737	20009737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatttggaggtgtctccGgatatgggaccctgggtttg	15	8	1	0	rs10917514	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:20009737G>A	ENST00000294543.6	-	16	1942	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	TMCO4_ENST00000375122.2_Silent_p.S527S|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	567						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGTGTCTCCGGATATGGGAC	0.667													G|||	627	0.1252	0.0537	0.111	5008	,	,		16666	0.2113		0.1133	False		,,,				2504	0.1554				p.S567S		.											.	TMCO4-68	0			c.C1701T						.	G		249,4157	145.4+/-180.2	7,235,1961	65	69	67		1701	-6.1	0	1	dbSNP_120	67	1129,7471	233.5+/-266.7	79,971,3250	no	coding-synonymous	TMCO4	NM_181719.4		86,1206,5211	AA,AG,GG		13.1279,5.6514,10.5951		567/635	20009737	1378,11628	2203	4300	6503	SO:0001819	synonymous_variant	255104	exon16			GTCTCCGGATATG		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1701C>T	1.37:g.20009737G>A		Somatic	313	4		WXS	Illumina GAIIx	Phase_I	289	15	NM_181719	0	0	0	0	0	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	CCDS198.1																																																																																			G|0.888;A|0.112		0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		A	20009737	G	A	20009737	2	1	14	1	0	0	0	0	0	0	0	1	16045	1103	39	1		1	TMCO4	1	20009737	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	9658550	20009737	229240884	3	3132											
KCNQ4	9132	bcgsc.ca	37	chr1	41296828	41296828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggtccttccaagcagcaTctggcacctccaacaatgcc	8	16	1	0	rs34287852	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:41296828T>G	ENST00000347132.5	+	10	1447	c.1365T>G	c.(1363-1365)caT>caG	p.H455Q	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.H401Q	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	455			H -> Q (in dbSNP:rs34287852). {ECO:0000269|PubMed:10025409}.		inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCAAGCAGCATCTGGCACCTC	0.642													T|||	471	0.0940495	0.0061	0.1124	5008	,	,		14942	0.0516		0.2167	False		,,,				2504	0.1176				p.H455Q		.											.	KCNQ4-90	0			c.T1365G	GRCh37	CM062786	KCNQ4	M	rs34287852	.	T	GLN/HIS,GLN/HIS	215,4187		3,209,1989	43	34	37		1365,1203	2	1	1	dbSNP_126	37	2062,6538		256,1550,2494	yes	missense,missense	KCNQ4	NM_004700.3,NM_172163.2	24,24	259,1759,4483	GG,GT,TT		23.9767,4.8841,17.5127	benign,benign	455/696,401/642	41296828	2277,10725	2201	4300	6501	SO:0001583	missense	9132	exon10			GCAGCATCTGGCA	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1365T>G	1.37:g.41296828T>G	ENSP00000262916:p.His455Gln	Somatic	334	5		WXS	Illumina GAIIx	Phase_I	312	10	NM_004700	0	0	0	0	0	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	244|244	0.11172161172161173|0.11172161172161173	5|5	0.01016260162601626|0.01016260162601626	48|48	0.13259668508287292|0.13259668508287292	33|33	0.057692307692307696|0.057692307692307696	158|158	0.20844327176781002|0.20844327176781002	T|T	10.83|10.83	1.461499|1.461499	0.26248|0.26248	0.048841|0.048841	0.239767|0.239767	ENSG00000117013|ENSG00000117013	ENST00000347132;ENST00000509682|ENST00000443478	D;D|.	0.98717|.	-5.09;-4.95|.	5.02|5.02	2.05|2.05	0.26809|0.26809	.|.	0.530165|.	0.18743|.	N|.	0.132418|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.14661|0.14661	0.345|0.345	0.35098|0.35098	P|P	0.23502900000000004|0.23502900000000004	B;B|.	0.17465|.	0.001;0.022|.	B;B|.	0.10450|.	0.001;0.005|.	T|T	0.35251|0.35251	-0.9796|-0.9796	9|4	0.17832|.	T|.	0.49|.	-13.1202|-13.1202	7.873|7.873	0.29578|0.29578	0.0:0.7067:0.0:0.2933|0.0:0.7067:0.0:0.2933	rs34287852|rs34287852	401;455|.	P56696-2;P56696|.	.;KCNQ4_HUMAN|.	Q|A	455;401|316	ENSP00000262916:H455Q;ENSP00000423756:H401Q|.	ENSP00000262916:H455Q|.	H|S	+|+	3|1	2|0	KCNQ4|KCNQ4	41069415|41069415	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.412000|0.412000	0.21131|0.21131	0.215000|0.215000	0.20761|0.20761	-0.394000|-0.394000	0.06481|0.06481	CAT|TCT	T|0.858;G|0.142		0.642	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		G	41296828	T	G	41296828	3	3	14	1	0	0	0	0	1	0	0	0	8112	1432	50	5	1403	5	KCNQ4	1	41296828	Missense_Mutation	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	21287091	41296828	207953793	4	3133											
C1orf173	127254	bcgsc.ca	37	chr1	75037845	75037845	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgtgtctctggcttcActcagtctttcccctcctcc	6	17	5	0	rs12723334	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:75037845A>G	ENST00000326665.5	-	14	3767	c.3549T>C	c.(3547-3549)agT>agC	p.S1183S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1183	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						CTCTGGCTTCACTCAGTCTTT	0.517													N|||	1879	0.3752	0.2466	0.3314	5008	,	,		20208	0.5843		0.3549	False		,,,				2504	0.3855				p.S1183S		.											.	C1orf173-94	0			c.T3549C						.	G		1103,3303	719.8+/-409.0	143,817,1243	144	141	142		3549	-8.7	0	1	dbSNP_121	142	3177,5423	653.5+/-401.1	598,1981,1721	no	coding-synonymous	C1orf173	NM_001002912.4		741,2798,2964	GG,GA,AA		36.9419,25.034,32.9079		1183/1531	75037845	4280,8726	2203	4300	6503	SO:0001819	synonymous_variant	127254	exon14			GGCTTCACTCAGT																												ENST00000326665.5:c.3549T>C	1.37:g.75037845A>G		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_001002912	0	0	0	0	0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																			A|0.649;G|0.351		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75037845	A	G	75037845	2	3	14	1	0	0	0	0	0	0	0	1	2021	156	6	4		4	C1orf173	1	75037845	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	33741017	75037845	174212776	5	3134											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	13	11	3	4	rs112145355		TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q		.											.	OVGP1-135	0			c.G1590A						.						59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1590G>A	1.37:g.111957533C>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	75	24	NM_002557	0	0	0	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																			C|0.500;T|0.500		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957533	C	T	111957533	2	4	14	1	0	0	0	0	0	0	0	1	11364	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	36919688	111957533	137293088	6	3135											
CHRNB2	1141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	154542804	154542804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaagaaagttcggctcccttCcaaacacatctggctcccag	8	14	1	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:154542804C>A	ENST00000368476.3	+	4	590	c.326C>A	c.(325-327)tCc>tAc	p.S109Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	109					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.S109C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGGCTCCCTTCCAAACACATC	0.532																																					p.S109Y		.											.	CHRNB2-90	1	Substitution - Missense(1)	urinary_tract(1)	c.C326A						.						66	55	59					1																	154542804		2203	4300	6503	SO:0001583	missense	1141	exon4			TCCCTTCCAAACA	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.326C>A	1.37:g.154542804C>A	ENSP00000357461:p.Ser109Tyr	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	114	12	NM_000748	0	0	0	0	0	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478290	0.84747	.	.	ENSG00000160716	ENST00000368476	T	0.80304	-1.36	5.25	4.35	0.52113	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87363	0.2345	10	0.87932	D	0	.	13.6082	0.62061	0.0:0.9249:0.0:0.0751	.	109	P17787	ACHB2_HUMAN	Y	109	ENSP00000357461:S109Y	ENSP00000357461:S109Y	S	+	2	0	CHRNB2	152809428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	1.457000	0.47850	0.563000	0.77884	TCC	.		0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154542804	C	A	154542804	3	1	14	1	0	0	0	0	1	0	0	0	3398	855	30	3	340	3	CHRNB2	1	154542804	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	42585271	154542804	94707817	7	3136											
OR6K3	391114	bcgsc.ca	37	chr1	158687896	158687896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcactgttgattggtttcCgctctccatatttctagtag	8	9	3	1	rs857705	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr1:158687896C>T	ENST00000368146.1	-	1	57	c.58G>A	c.(58-60)Gga>Aga	p.G20R	OR6K3_ENST00000368145.1_Missense_Mutation_p.G4R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	20			G -> R (in dbSNP:rs857705).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GATTGGTTTCCGCTCTCCATA	0.388													c|||	1127	0.22504	0.2943	0.1614	5008	,	,		16757	0.1518		0.2227	False		,,,				2504	0.2546				p.G4R		.											.	OR6K3-70	0			c.G10A						.	T	ARG/GLY	1248,3158	420.2+/-338.9	176,896,1131	48	47	48		10	-2.9	0	1	dbSNP_86	48	1756,6844	312.7+/-311.0	164,1428,2708	yes	missense	OR6K3	NM_001005327.2	125	340,2324,3839	TT,TC,CC		20.4186,28.325,23.097	benign	4/316	158687896	3004,10002	2203	4300	6503	SO:0001583	missense	391114	exon1			GGTTTCCGCTCTC	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.58G>A	1.37:g.158687896C>T	ENSP00000357128:p.Gly20Arg	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	56	5	NM_001005327	0	0	0	0	0	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		463	0.211996336996337	145	0.29471544715447157	60	0.16574585635359115	81	0.14160839160839161	177	0.23350923482849603	c	4.440	0.081406	0.08533	0.28325	0.204186	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00484	7.08;7.08	3.89	-2.94	0.05581	.	.	.	.	.	T	0.00073	0.0002	N	0.25144	0.715	0.80722	P	0.0	B	0.11235	0.004	B	0.06405	0.002	T	0.11060	-1.0603	8	0.17369	T	0.5	.	2.3035	0.04168	0.1216:0.3478:0.1196:0.411	rs857705;rs52837960;rs58065485;rs857705	20	Q8NGY3	OR6K3_HUMAN	R	4;20	ENSP00000357127:G4R;ENSP00000357128:G20R	ENSP00000357127:G4R	G	-	1	0	OR6K3	156954520	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.046000	0.03525	-0.465000	0.06953	-1.804000	0.00617	GGA	C|0.776;T|0.224		0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				T	158687896	C	T	158687896	3	4	14	1	0	0	0	0	1	0	0	0	11242	661	23	1	939	1	OR6K3	1	158687896	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	4145092	158687896	90562725	8	3137											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	14	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		1481231	241718142	9	3138											
USP34	9736	broad.mit.edu	37	chr2	61417514	61417514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataagagtgctgatcaaattGgcacagtttgcttcagaaaa	9	6	2	3			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr2:61417514G>T	ENST00000398571.2	-	78	9841	c.9765C>A	c.(9763-9765)gcC>gcA	p.A3255A	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3255					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)			TGATCAAATTGGCACAGTTTG	0.353																																					p.A3255A		.											.	USP34-579	0			c.C9765A						.						83	78	80					2																	61417514		1833	4094	5927	SO:0001819	synonymous_variant	9736	exon78			CAAATTGGCACAG	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.9765C>A	2.37:g.61417514G>T		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	68	3	NM_014709	0	0	0	0	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	9.008	0.981880	0.18812	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.69851	0.3157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66384	-0.5937	4	.	.	.	.	13.923	0.63945	0.0:0.0:0.7353:0.2647	.	.	.	.	K	932	.	.	Q	-	1	0	USP34	61271018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.576000	0.46033	2.941000	0.99782	0.655000	0.94253	CAA	.		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61417514	G	T	61417514	2	4	14	1	0	0	0	0	0	0	0	1	17114	1335	47	3		3	USP34	2	61417514	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	59936283	61417514	181781859	10	3139											
POTEE	445582	ucsc.edu	37	chr2	131976171	131976172	+	Missense_Mutation	DNP	CA	CA	TG													gcaagatgggcaagtggtgcCaccactgcttcccctgctgc							TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr2:131976171_131976172CA>TG	ENST00000356920.5	+	1	290_291	c.196_197CA>TG	c.(196-198)CAc>TGc	p.H66C	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.H66C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	66					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAGTGGTGCCACCACTGCTTC	0.594																																					p.H66C		.											.	.	0			c.A197G						.																																			SO:0001583	missense	445582	exon1			GGTGCCACCACTG	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	Exception_encountered	2.37:g.131976171_131976172delinsTG	ENSP00000439189:p.His66Cys	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	173	0	NM_001083538	0	0	0	0	0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	DNP	ENST00000356920.5	37	CCDS46414.1																																																																																			A|0.500;G|0.500		0.594	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		TG	131976172	CA	TG	131976171	3	4	14	1	0	0	0	0	1	0	0	0	12303	594	21	3	198	3	POTEE	2	131976171	Missense_Mutation	DNP	CA	TCGA-OR-A5JH-01A-11D-A30A-10	70558657	131976171	111223202	11	3140											
SESTD1	91404	bcgsc.ca	37	chr2	179986553	179986553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtggtccacattttcTttattttcaatggttacatc	6	7	2	0	rs56336305	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr2:179986553T>C	ENST00000428443.3	-	13	1702	c.1386A>G	c.(1384-1386)aaA>aaG	p.K462K		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	462							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)			CCACATTTTCTTTATTTTCAA	0.383													T|||	56	0.0111821	0	0.0159	5008	,	,		17677	0		0.0278	False		,,,				2504	0.0174				p.K462K		.											.	SESTD1-228	0			c.A1386G						.	T		25,4381	32.6+/-62.9	0,25,2178	110	105	107		1386	2.8	1	2	dbSNP_129	107	198,8402	86.9+/-149.2	0,198,4102	no	coding-synonymous	SESTD1	NM_178123.4		0,223,6280	CC,CT,TT		2.3023,0.5674,1.7146		462/697	179986553	223,12783	2203	4300	6503	SO:0001819	synonymous_variant	91404	exon13			ATTTTCTTTATTT	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.1386A>G	2.37:g.179986553T>C		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_178123	0	0	0	0	0	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	CCDS33338.1																																																																																			T|0.982;C|0.018		0.383	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179986553	T	C	179986553	2	2	14	1	0	0	0	0	0	0	0	1	14172	1606	56	4		4	SESTD1	2	179986553	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	48010382	179986553	63212820	12	3141											
SMARCC1	6599	bcgsc.ca	37	chr3	47712202	47712202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttccagcactagcaccTttactctaaggaaacaaaat	4	12	2	0	rs1141601	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr3:47712202T>C	ENST00000254480.5	-	19	1964	c.1845A>G	c.(1843-1845)aaA>aaG	p.K615K	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	615					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)			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)		CACTAGCACCTTTACTCTAAG	0.413													T|||	926	0.184904	0.0113	0.2795	5008	,	,		19467	0.251		0.3221	False		,,,				2504	0.1431				p.K615K		.											.	SMARCC1-228	0			c.A1845G						.	T		257,4149	145.4+/-180.2	9,239,1955	119	103	108		1845	4.3	1	3	dbSNP_86	108	2428,6172	392.3+/-344.0	367,1694,2239	no	coding-synonymous	SMARCC1	NM_003074.3		376,1933,4194	CC,CT,TT		28.2326,5.833,20.6443		615/1106	47712202	2685,10321	2203	4300	6503	SO:0001819	synonymous_variant	6599	exon19			AGCACCTTTACTC	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.1845A>G	3.37:g.47712202T>C		Somatic	244	0		WXS	Illumina GAIIx	Phase_I	248	7	NM_003074	0	0	0	0	0	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																			T|0.472;G|0.091		0.413	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			C	47712202	T	C	47712202	2	2	14	1	0	0	0	0	0	0	0	1	14820	1606	56	4		4	SMARCC1	3	47712202	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10		47712202	150310228	13	3142											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	14	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	18838554	66550756	131471674	14	3143	23	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	14	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	6	66550762	131471668	15	3144	23	2									
ZPLD1	131368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	102171984	102171984	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggaaacaacctggtgGtaagattagtgtgacattgt	13	5	0	2			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr3:102171984G>T	ENST00000491959.1	+	10	1209		c.e10+1		ZPLD1_ENST00000466937.1_Splice_Site|ZPLD1_ENST00000306176.1_Splice_Site			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAACCTGGTGGTAAGATTAGT	0.418																																					.		.											.	ZPLD1-72	0			c.375+1G>T						.						60	53	55					3																	102171984		2203	4300	6503	SO:0001630	splice_region_variant	131368	exon3			CTGGTGGTAAGAT	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.327+1G>T	3.37:g.102171984G>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	76	8	NM_175056	0	0	0	0	0	Q49AS1|Q8WU36	Splice_Site	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.405661	0.83230	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZPLD1	103654674	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.301000	0.96167	2.840000	0.97914	0.655000	0.94253	.	.		0.418	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	Intron	T	102171984	G	T	102171984	5	4	14	1	0	0	0	0	0	0	1	0	18269	1275	44	3	386	3	ZPLD1	3	102171984	Splice_Site	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	35621222	102171984	95850446	16	3145											
DOK7	285489	broad.mit.edu	37	chr4	3494664	3494664	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggtgcctcaaggccAccccccaagccgctgcgtcc	12	17	1	0			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr4:3494664A>C	ENST00000340083.5	+	7	1016	c.951A>C	c.(949-951)ccA>ccC	p.P317P	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_Silent_p.P317P	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	317	Ser-rich.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCAAGGCCACCCCCCAAGC	0.692																																					p.P317P		.											.	DOK7-91	0			c.A951C						.						7	8	7					4																	3494664		2122	4167	6289	SO:0001819	synonymous_variant	285489	exon7			AAGGCCACCCCCC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.951A>C	4.37:g.3494664A>C		Somatic	20	2		WXS	Illumina GAIIx	Phase_I	113	31	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			.		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		C	3494664	A	C	3494664	2	2	14	1	0	0	0	0	0	0	0	1	4716	146	6	5		5	DOK7	4	3494664	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10		3494664	187659612	17	3146											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492769	48492769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctctttctcccagcAgccatcccgtcgaggcctgg	12	16	2	0	rs74929644	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr4:48492769A>T	ENST00000327939.4	+	1	501	c.461A>T	c.(460-462)cAg>cTg	p.Q154L		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	154					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						TTCTCCCAGCAGCCATCCCGT	0.781													A|||	1944	0.388179	0.171	0.572	5008	,	,		7581	0.4454		0.5089	False		,,,				2504	0.3681				p.Q154L		.											.	ZAR1-90	0			c.A461T						.	A	LEU/GLN	483,2381		61,361,1010	4	4	4		461	-6.2	0	4	dbSNP_131	4	2428,3758		540,1348,1205	no	missense	ZAR1	NM_175619.1	113	601,1709,2215	TT,TA,AA		39.2499,16.8645,32.1657	benign	154/425	48492769	2911,6139	1432	3093	4525	SO:0001583	missense	326340	exon1			CCCAGCAGCCATC	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.461A>T	4.37:g.48492769A>T	ENSP00000329803:p.Gln154Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	979	0.4482600732600733	95	0.19308943089430894	212	0.585635359116022	288	0.5034965034965035	384	0.5065963060686016	A	12.09	1.834066	0.32421	0.168645	0.392499	ENSG00000182223	ENST00000327939	.	.	.	3.61	-6.17	0.02091	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.49194	-0.8965	7	0.25751	T	0.34	.	0.9878	0.01450	0.443:0.2168:0.1793:0.1609	.	154	Q86SH2	ZAR1_HUMAN	L	154	.	ENSP00000329803:Q154L	Q	+	2	0	ZAR1	48187526	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.738000	0.04871	-0.489000	0.06716	-0.680000	0.03767	CAG	A|0.552;T|0.448		0.781	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			T	48492769	A	T	48492769	3	4	14	1	0	0	0	0	1	0	0	0	17564	188	7	5	463	5	ZAR1	4	48492769	Missense_Mutation	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	44998105	48492769	142661507	18	3147											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	14	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		175792605	5122655	19	3148											
MUC21	394263	bcgsc.ca	37	chr6	30954484	30954484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaacctccagtggggccAgcacagccaccaactctgag	10	16	1	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:30954484A>G	ENST00000376296.3	+	2	773	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	178	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						CAGTGGGGCCAGCACAGCCAC	0.617																																					p.S178G		.											.	MUC21-92	0			c.A532G						.						148	142	144					6																	30954484		2202	4299	6501	SO:0001583	missense	394263	exon2			GGGGCCAGCACAG	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.532A>G	6.37:g.30954484A>G	ENSP00000365473:p.Ser178Gly	Somatic	286	4		WXS	Illumina GAIIx	Phase_I	240	15	NM_001010909	0	0	0	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017680	0.35606	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.72	1.18	0.20946	.	.	.	.	.	T	0.01029	0.0034	L	0.34521	1.04	0.25544	N	0.987158	P	0.36909	0.573	B	0.40901	0.343	T	0.49725	-0.8909	8	.	.	.	-1.0525	6.8168	0.23835	0.7888:0.0:0.2112:0.0	rs9262365	178	Q5SSG8	MUC21_HUMAN	G	178	ENSP00000365473:S178G	.	S	+	1	0	MUC21	31062463	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	0.546000	0.23284	0.137000	0.18759	0.397000	0.26171	AGC	.		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		G	30954484	A	G	30954484	3	3	14	1	0	0	0	0	1	0	0	0	10015	188	7	4	538	4	MUC21	6	30954484	Missense_Mutation	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10		30954484	140160583	20	3149											
HLA-C	3107	bcgsc.ca	37	chr6	31239407	31239407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtagtagccgcgcagGttccgcaggctcactcggtc	14	12	1	0	rs17408553	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:31239407G>T	ENST00000376228.5	-	2	326	c.312C>A	c.(310-312)aaC>aaA	p.N104K	HLA-C_ENST00000383329.3_Missense_Mutation_p.N104K	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	104	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGCCGCGCAGGTTCCGCAGGC	0.716													g|||	1938	0.386981	0.5408	0.3862	5008	,	,		10850	0.1399		0.4115	False		,,,				2504	0.409				p.N104K		.											.	HLA-C-90	0			c.C312A						.	G	LYS/ASN	1618,1404		435,748,328	40	41	41		312	-0.2	0	6	dbSNP_123	41	2036,3382		372,1292,1045	no	missense	HLA-C	NM_002117.5	94	807,2040,1373	TT,TG,GG		37.5784,46.4593,43.2938	benign	104/367	31239407	3654,4786	1511	2709	4220	SO:0001583	missense	3107	exon2			GCGCAGGTTCCGC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.312C>A	6.37:g.31239407G>T	ENSP00000365402:p.Asn104Lys	Somatic	201	1		WXS	Illumina GAIIx	Phase_I	202	7	NM_002117	0	0	0	0	0	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	792|792	0.3626373626373626|0.3626373626373626	263|263	0.5345528455284553|0.5345528455284553	141|141	0.38950276243093923|0.38950276243093923	80|80	0.13986013986013987|0.13986013986013987	308|308	0.40633245382585753|0.40633245382585753	N|N	7.072|7.072	0.568503|0.568503	0.13560|0.13560	0.535407|0.535407	0.375784|0.375784	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00686|.	5.85;5.85|.	2.81|2.81	-0.203|-0.203	0.13204|0.13204	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.795410|.	0.05622|.	U|.	0.580150|.	T|T	0.33381|0.33381	0.0861|0.0861	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B|.	0.21688|.	0.059;0.017;0.017;0.008|.	B;B;B;B|.	0.33890|.	0.172;0.066;0.097;0.045|.	T|T	0.23833|0.23833	-1.0177|-1.0177	9|4	0.37606|.	T|.	0.19|.	.|.	3.4973|3.4973	0.07659|0.07659	0.2649:0.2124:0.5227:0.0|0.2649:0.2124:0.5227:0.0	rs17408553;rs28393247;rs52821555|rs17408553;rs28393247;rs52821555	104;104;104;104|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	K|T	104;104;104;141|104	ENSP00000365402:N104K;ENSP00000372819:N104K|.	ENSP00000365402:N104K|.	N|P	-|-	3|1	2|0	HLA-C|HLA-C	31347386|31347386	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.046000|-0.046000	0.11983|0.11983	-0.060000|-0.060000	0.13132|0.13132	0.305000|0.305000	0.20034|0.20034	AAC|CCT	G|0.602;T|0.398		0.716	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239407	G	T	31239407	3	4	14	1	0	0	0	0	1	0	0	0	7224	1252	44	3	816	3	HLA-C	6	31239407	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	284923	31239407	139875660	21	3150											
BAT4	7918	bcgsc.ca	37	chr6	31630241	31630241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcctagtccttcctggtcCctcttgaggacagtggggat	12	11	1	1	rs7992	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:31630241C>T	ENST00000375906.1	-	4	1557	c.873G>A	c.(871-873)agG>agA	p.R291R	GPANK1_ENST00000375895.2_Silent_p.R291R|GPANK1_ENST00000375900.4_Silent_p.R291R|GPANK1_ENST00000375893.2_Silent_p.R291R|Y_RNA_ENST00000364337.1_RNA|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375896.4_Silent_p.R291R|CSNK2B_ENST00000375885.4_5'Flank|C6orf47_ENST00000375911.1_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	291	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTTCCTGGTCCCTCTTGAGGA	0.652													C|||	2058	0.410942	0.6135	0.4078	5008	,	,		17114	0.369		0.2952	False		,,,				2504	0.3016				p.R291R		.											.	GPANK1-91	0			c.G873A						.	C	,,,,	1649,1373		451,747,313	81	83	82		873,873,873,873,873	1.8	1	6	dbSNP_52	82	1446,3972		198,1050,1461	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	649,1797,1774	TT,TC,CC		26.6888,45.4335,36.6706	,,,,	291/357,291/357,291/357,291/357,291/357	31630241	3095,5345	1511	2709	4220	SO:0001819	synonymous_variant	7918	exon4			CTGGTCCCTCTTG		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.873G>A	6.37:g.31630241C>T		Somatic	175	1		WXS	Illumina GAIIx	Phase_I	134	7	NM_001199238	0	0	0	0	0	A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	CCDS4711.1																																																																																			C|0.620;T|0.380		0.652	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		T	31630241	C	T	31630241	2	4	14	1	0	0	0	0	0	0	0	1	1324	622	22	3		3	BAT4	6	31630241	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	390834	31630241	139484826	22	3151											
CUL9	23113	broad.mit.edu	37	chr6	43188511	43188511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgctcctgcgtggctaTgtggagagctgctccaacct	13	12	0	1	rs41274934	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:43188511T>C	ENST00000252050.4	+	33	6534	c.6450T>C	c.(6448-6450)taT>taC	p.Y2150Y	CUL9_ENST00000354495.3_Silent_p.Y2040Y|CUL9_ENST00000372647.2_Silent_p.Y2122Y|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2150					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCGTGGCTATGTGGAGAGCT	0.662													T|||	3	0.000599042	8e-04	0	5008	,	,		19302	0		0.002	False		,,,				2504	0				p.Y2150Y		.											.	CUL9-529	0			c.T6450C						.	T		2,4404	4.2+/-10.8	0,2,2201	65	60	62		6450	-4.6	1	6	dbSNP_127	62	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous	CUL9	NM_015089.2		0,22,6481	CC,CT,TT		0.2326,0.0454,0.1692		2150/2518	43188511	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	23113	exon33			TGGCTATGTGGAG	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6450T>C	6.37:g.43188511T>C		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	92	3	NM_015089	0	0	0	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																			T|0.999;C|0.001		0.662	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		C	43188511	T	C	43188511	2	2	14	1	0	0	0	0	0	0	0	1	4070	1471	51	4		4	CUL9	6	43188511	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	11558270	43188511	127926556	23	3152											
HSP90AB1	3326	ucsc.edu	37	chr6	44221293	44221293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgatgagatcccccctctCgagggcgatgaggatgcgtc	13	13	1	3	rs147025760	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:44221293C>T	ENST00000371554.1	+	12	2347	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Silent_p.L711L|HSP90AB1_ENST00000353801.3_Silent_p.L711L|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	711					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)			TCCCCCCTCTCGAGGGCGATG	0.493											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L711L		.											.	HSP90AB1-658	0			c.C2133T						.						78	80	79					6																	44221293		2203	4300	6503	SO:0001819	synonymous_variant	3326	exon12			CCCTCTCGAGGGC	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.2133C>T	6.37:g.44221293C>T		Somatic	146	8	922	WXS	Illumina GAIIx	Phase_I	152	24	NM_007355	0	0	0	0	0	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	CCDS4909.1																																																																																			C|0.960;T|0.040		0.493	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		T	44221293	C	T	44221293	2	4	14	1	0	0	0	0	0	0	0	1	7429	871	31	1		1	HSP90AB1	6	44221293	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	1032782	44221293	126893774	24	3153											
TBX18	9096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	85446964	85446964	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggtgaggcctgagcgGgcacaggcagaatagtcagc	17	8	1	4			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr6:85446964G>T	ENST00000369663.5	-	8	1600	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	421					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCCTGAGCGGGCACAGGCAG	0.597																																					p.A421A		.											.	TBX18-73	0			c.C1263A						.						96	90	92					6																	85446964		2203	4300	6503	SO:0001819	synonymous_variant	9096	exon8			TGAGCGGGCACAG	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1263C>A	6.37:g.85446964G>T		Somatic	220	0		WXS	Illumina GAIIx	Phase_I	260	14	NM_001080508	0	0	0	0	0	A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	CCDS34495.1																																																																																			.		0.597	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		T	85446964	G	T	85446964	2	4	14	1	0	0	0	0	0	0	0	1	15700	1219	43	3		3	TBX18	6	85446964	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	41225671	85446964	85668103	25	3154											
EIF2AK1	27102	broad.mit.edu	37	chr7	6078221	6078221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacatactcccggccccGcttgtttctctcgactatcc	6	18	1	0	rs142287286		TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:6078221G>A	ENST00000199389.6	-	10	1347	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	EIF2AK1_ENST00000495565.1_5'Flank|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.R277W	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCCCGGCCCCGCTTGTTTCTC	0.562																																					p.R401W		.											.	EIF2AK1-408	0			c.C1201T						.	G	TRP/ARG,TRP/ARG	1,4405		0,1,2202	136	127	130		1198,1201	3.7	0	7	dbSNP_134	130	4,8596		0,4,4296	yes	missense,missense	EIF2AK1	NM_001134335.1,NM_014413.3	101,101	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging,probably-damaging	400/630,401/631	6078221	5,13001	2203	4300	6503	SO:0001583	missense	27102	exon10			GGCCCCGCTTGTT	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1201C>T	7.37:g.6078221G>A	ENSP00000199389:p.Arg401Trp	Somatic	64	2		WXS	Illumina GAIIx	Phase_I	93	4	NM_014413	0	0	0	0	0	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	16.97	3.269543	0.59540	2.27E-4	4.65E-4	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.71222	-0.48;-0.55	5.74	3.73	0.42828	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.576734	0.19662	N	0.108953	D	0.84933	0.5582	M	0.88570	2.965	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71870	0.975;0.951;0.957	T	0.77419	-0.2595	10	0.66056	D	0.02	-14.0177	12.8871	0.58051	0.0:0.0:0.6267:0.3733	.	277;400;401	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	W	401;277;28	ENSP00000199389:R401W;ENSP00000445784:R277W	ENSP00000199389:R401W	R	-	1	2	EIF2AK1	6044747	0.001000	0.12720	0.042000	0.18584	0.046000	0.14306	0.905000	0.28504	1.355000	0.45865	0.650000	0.86243	CGG	G|1.000;A|0.000		0.562	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		A	6078221	G	A	6078221	3	1	14	1	0	0	0	0	1	0	0	0	5010	1086	38	1	715	1	EIF2AK1	7	6078221	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		6078221	153060442	26	3155											
GARS	2617	hgsc.bcm.edu	37	chr7	30634630	30634630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagcccgaccctcgctcctGctccgccggtccctcagcgc	9	21	1	0	rs2529438	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:30634630G>C	ENST00000389266.3	+	1	334	c.93G>C	c.(91-93)ctG>ctC	p.L31L	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	31					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)	CCTCGCTCCTGCTCCGCCGGT	0.741													G|||	705	0.140775	0.1218	0.0994	5008	,	,		12290	0.1776		0.0726	False		,,,				2504	0.228				p.L31L		.											.	GARS-91	0			c.G93C						.	G		360,3594		14,332,1631	6	8	7		93	2.7	0	7	dbSNP_100	7	669,7413		24,621,3396	no	coding-synonymous	GARS	NM_002047.2		38,953,5027	CC,CG,GG		8.2777,9.1047,8.5494		31/740	30634630	1029,11007	1977	4041	6018	SO:0001819	synonymous_variant	2617	exon1			GCTCCTGCTCCGC	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.93G>C	7.37:g.30634630G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			G|0.889;C|0.111		0.741	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		C	30634630	G	C	30634630	2	2	14	1	0	0	0	0	0	0	0	1	6267	1306	46	3		3	GARS	7	30634630	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	24556409	30634630	128504033	27	3156			1	8		2	2	32	N	G_C	6.809271e-05
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	14	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	31	30634661	128504002	28	3157			1	8		2	2	32	N	G_C	6.809271e-05
PDE1C	5137	broad.mit.edu	37	chr7	31867930	31867930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactgagcaaccatagTggactttcggtcacacagag	11	9	1	3			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:31867930T>G	ENST00000396191.1	-	12	1716	c.1261A>C	c.(1261-1263)Act>Cct	p.T421P	PDE1C_ENST00000396184.3_Missense_Mutation_p.T421P|PDE1C_ENST00000321453.7_Missense_Mutation_p.T421P|PDE1C_ENST00000396193.1_Missense_Mutation_p.T481P|PDE1C_ENST00000396182.2_Missense_Mutation_p.T421P	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	421	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T421P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GCAACCATAGTGGACTTTCGG	0.468																																					p.T481P		.											.	PDE1C-94	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.A1441C						.						85	77	80					7																	31867930		2203	4300	6503	SO:0001583	missense	5137	exon13			CCATAGTGGACTT	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.1261A>C	7.37:g.31867930T>G	ENSP00000379494:p.Thr421Pro	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	85	4	NM_001191058	0	0	0	0	0	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018863	0.93404	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.61	5.61	0.85477	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74348	0.983;0.977;0.952	D	0.90601	0.4544	10	0.87932	D	0	.	15.759	0.78063	0.0:0.0:0.0:1.0	.	421;481;421	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	P	481;421;421;421;421	ENSP00000379496:T481P;ENSP00000379494:T421P;ENSP00000318105:T421P;ENSP00000379487:T421P;ENSP00000379485:T421P	ENSP00000318105:T421P	T	-	1	0	PDE1C	31834455	1.000000	0.71417	0.931000	0.37212	0.995000	0.86356	7.945000	0.87732	2.269000	0.75478	0.533000	0.62120	ACT	.		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			G	31867930	T	G	31867930	3	3	14	1	0	0	0	0	1	0	0	0	11674	1696	59	5	667	5	PDE1C	7	31867930	Missense_Mutation	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	1233269	31867930	127270733	29	3158											
AVL9	23080	broad.mit.edu	37	chr7	32535342	32535343	+	Frame_Shift_Ins	INS	-	-	G													tggagaaggccaggagaggcINSggggatggcgtcccccgggg							TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:32535342_32535343insG	ENST00000318709.4	+	1	242_243	c.21_22insG	c.(22-24)gggfs	p.G8fs	LSM5_ENST00000409909.3_5'Flank|LSM5_ENST00000409952.3_5'Flank|AVL9_ENST00000409301.1_Frame_Shift_Ins_p.G8fs|AVL9_ENST00000459629.1_3'UTR|AVL9_ENST00000404479.1_Frame_Shift_Ins_p.G8fs	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	8					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCAGGAGAGGCGGGGATGGCGT	0.718																																					p.G7fs		.											.	AVL9-90	0			c.21_22insG						.			54,3176		7,40,1568						-1.4	0			11	106,6304		12,82,3111	no	frameshift	AVL9	NM_015060.1		19,122,4679	A1A1,A1R,RR		1.6537,1.6718,1.6598				160,9480				SO:0001589	frameshift_variant	23080	exon1			GAGAGGCGGGGAT	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.25dupG	7.37:g.32535346_32535346dupG	ENSP00000315568:p.Gly8fs	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	208	9	NM_015060	0	0	0	0	0	Q92573	Frame_Shift_Ins	INS	ENST00000318709.4	37	CCDS34613.1																																																																																			.		0.718	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		G	32535343	-	G	32535342	7	5	14	1	0	1	1	0	0	0	0	0	1229	755	27	0	23	0	AVL9	7	32535342	Frame_Shift_Ins	INS	-	TCGA-OR-A5JH-01A-11D-A30A-10	667412	32535342	126603321	30	3159											
RAMP3	10268	hgsc.bcm.edu	37	chr7	45197433	45197433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcggccggccagccatggaGactggagcgctgcggcgccc	17	15	0	1	rs67477213	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000481345.1_Silent_p.E2E|RAMP3_ENST00000496212.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					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)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3	3	3		6	2	0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	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.6G>A	7.37:g.45197433G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_005856	0	0	0	0	0	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45197433	G	A	45197433	2	1	14	1	0	0	0	0	0	0	0	1	13068	933	33	3		3	RAMP3	7	45197433	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	12662091	45197433	113941230	31	3160											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874554	144874554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccacctcccaggggTgggggggacgccgggctctg	21	13	1	0	rs6991873	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	SCRIB_ENST00000356994.2_Silent_p.P1450P|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1369P|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					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)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1		0.998	False		,,,				2504	1				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3	4	4		4350,4350	-2.9	0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	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.4350A>G	8.37:g.144874554T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015356	0	0	0	0	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144874554	T	C	144874554	2	2	14	1	0	0	0	0	0	0	0	1	13982	1683	59	4		4	SCRIB	8	144874554	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10		144874554	1489468	32	3161											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000436759.2_Silent_p.L1211L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	25	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	14	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	127230	145001784	1362238	33	3162											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	14	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	1031563	146033347	330675	34	3163											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832719	5832719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgtcgaactccccgcgGtgtccagcggccccgcgtag	14	17	0	0	rs13302671	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr9:5832719G>C	ENST00000339450.5	-	1	398	c.309C>G	c.(307-309)caC>caG	p.H103Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	103						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)		ACTCCCCGCGGTGTCCAGCGG	0.751													G|||	78	0.0155751	0.0204	0.0216	5008	,	,		2342	0.001		0.0318	False		,,,				2504	0.0031				p.H103Q		.											.	ERMP1-69	0			c.C309G						.	G	GLN/HIS	34,3206		0,34,1586	4	3	3		309	4.4	0	9	dbSNP_121	3	104,6552		0,104,3224	yes	missense	ERMP1	NM_024896.2	24	0,138,4810	CC,CG,GG		1.5625,1.0494,1.3945	benign	103/905	5832719	138,9758	1620	3328	4948	SO:0001583	missense	79956	exon1			CCCGCGGTGTCCA	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.309C>G	9.37:g.5832719G>C	ENSP00000340427:p.His103Gln	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	38	0.0173992673992674	13	0.026422764227642278	8	0.022099447513812154	0	0.0	17	0.022427440633245383	G	5.805	0.332747	0.11013	0.010494	0.015625	ENSG00000099219	ENST00000339450	T	0.43294	0.95	4.44	4.44	0.53790	.	1.479950	0.04451	N	0.372552	T	0.14700	0.0355	L	0.38175	1.15	0.43377	D	0.995479	B;B	0.14438	0.01;0.009	B;B	0.11329	0.004;0.006	T	0.06770	-1.0808	10	0.11182	T	0.66	0.2942	10.7252	0.46064	0.0883:0.0:0.9117:0.0	rs13302671	103;103	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	Q	103	ENSP00000340427:H103Q	ENSP00000340427:H103Q	H	-	3	2	ERMP1	5822719	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	0.333000	0.19768	2.009000	0.58944	0.462000	0.41574	CAC	G|0.981;C|0.019		0.751	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832719	G	C	5832719	3	2	14	1	0	0	0	0	1	0	0	0	5252	1252	44	3	2465	3	ERMP1	9	5832719	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		5832719	135380712	35	3164											
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA													catcttgtctcccagcgtcaINStcttgtctcccagtgtccaa					rs567658963|rs536300617	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		Somatic	360	0		WXS	Illumina GAIIx	Phase_I	463	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		TCTTGTCTCCCAGCGTCA	90534193	-	TCTTGTCTCCCAGCGTCA	90534192	6	5	14	0	1	1	1	0	0	0	0	0	5645	217	8	0		0	FAM75C1	9	90534192	RNA	INS	-	TCGA-OR-A5JH-01A-11D-A30A-10	84701473	90534192	50679239	36	3165											
SPTAN1	6709	broad.mit.edu	37	chr9	131371246	131371246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctagccggcgcaatgagGtcttggacaggtgggtgtcc	15	9	2	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr9:131371246G>T	ENST00000372731.4	+	35	4695	c.4585G>T	c.(4585-4587)Gtc>Ttc	p.V1529F	SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1529F|SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1529F	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1529					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						GCGCAATGAGGTCTTGGACAG	0.577																																					p.V1529F	NSCLC(120;833 1744 2558 35612 37579)	.											.	SPTAN1-158	0			c.G4585T						.						112	115	114					9																	131371246		2203	4300	6503	SO:0001583	missense	6709	exon35			AATGAGGTCTTGG	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.4585G>T	9.37:g.131371246G>T	ENSP00000361816:p.Val1529Phe	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_003127	0	0	0	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667783	0.88348	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.54071	0.59;0.59;0.59	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.92077	3.27	0.80722	D	1	D;D;D	0.71674	0.998;0.962;0.97	D;P;P	0.72625	0.978;0.575;0.7	D	0.84613	0.0679	10	0.87932	D	0	.	15.2412	0.73471	0.0676:0.0:0.9324:0.0	.	1509;1529;1529	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	F	1529;1529;1529;1509	ENSP00000350882:V1529F;ENSP00000361816:V1529F;ENSP00000361824:V1529F	ENSP00000350882:V1529F	V	+	1	0	SPTAN1	130411067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	1.581000	0.49865	0.655000	0.94253	GTC	.		0.577	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131371246	G	T	131371246	3	4	14	1	0	0	0	0	1	0	0	0	15164	1261	44	3	4719	3	SPTAN1	9	131371246	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	40837054	131371246	9842185	37	3166											
SNAPC4	6621	bcgsc.ca	37	chr9	139273288	139273288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcaggggctgtgccCtcggcctctgagaagacagg	16	11	1	2	rs3829112	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr9:139273288C>T	ENST00000298532.2	-	21	3359	c.2991G>A	c.(2989-2991)gaG>gaA	p.E997E		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGCTGTGCCCTCGGCCTCTG	0.667													C|||	945	0.188698	0.0893	0.2594	5008	,	,		10947	0.2738		0.161	False		,,,				2504	0.2137				p.E997E		.											.	SNAPC4-90	0			c.G2991A						.	C		382,4000		17,348,1826	15	18	17		2991	1.9	0	9	dbSNP_107	17	1323,7263		102,1119,3072	no	coding-synonymous	SNAPC4	NM_003086.2		119,1467,4898	TT,TC,CC		15.4088,8.7175,13.1477		997/1470	139273288	1705,11263	2191	4293	6484	SO:0001819	synonymous_variant	6621	exon21			TGTGCCCTCGGCC	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2991G>A	9.37:g.139273288C>T		Somatic	200	3		WXS	Illumina GAIIx	Phase_I	250	8	NM_003086	0	0	0	0	0		Silent	SNP	ENST00000298532.2	37	CCDS6998.1																																																																																			C|0.845;T|0.155		0.667	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		T	139273288	C	T	139273288	2	4	14	1	0	0	0	0	0	0	0	1	14882	680	24	3		3	SNAPC4	9	139273288	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	7902042	139273288	1940143	38	3167											
SORBS1	10580	ucsc.edu;bcgsc.ca	37	chr10	97096405	97096405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggctctcctcagggGtgttgagatctgagagtctc	15	11	4	2			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr10:97096405G>T	ENST00000361941.3	-	28	3538	c.3512C>A	c.(3511-3513)aCc>aAc	p.T1171N	SORBS1_ENST00000277982.5_Missense_Mutation_p.T1030N|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1030N|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1171N|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1125N|SORBS1_ENST00000371249.2_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTCCTCAGGGGTGTTGAGATC	0.602																																					p.T1171N		.											.	SORBS1-155	0			c.C3512A						.						94	99	97					10																	97096405		2203	4300	6503	SO:0001583	missense	10580	exon28			TCAGGGGTGTTGA	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.3512C>A	10.37:g.97096405G>T	ENSP00000355136:p.Thr1171Asn	Somatic	47	1		WXS	Illumina GAIIx	Phase_I	44	5	NM_001034954	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916079	0.52546	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000361941;ENST00000277982	T;T;T;T;T	0.08458	3.11;3.09;3.36;3.11;3.36	5.58	-1.01	0.10169	.	1.168410	0.06436	N	0.724998	T	0.05547	0.0146	N	0.19112	0.55	0.18873	N	0.999987	B;B;B	0.22983	0.078;0.047;0.078	B;B;B	0.24155	0.051;0.023;0.051	T	0.46034	-0.9220	10	0.25751	T	0.34	0.4862	5.9081	0.19012	0.2757:0.3611:0.3633:0.0	.	1125;1171;1030	Q9BX66-11;Q9BX66;Q9BX66-2	.;SRBS1_HUMAN;.	N	1171;1125;1030;1171;1030	ENSP00000360293:T1171N;ENSP00000360271:T1125N;ENSP00000360292:T1030N;ENSP00000355136:T1171N;ENSP00000277982:T1030N	ENSP00000277982:T1030N	T	-	2	0	SORBS1	97086395	0.281000	0.24258	0.043000	0.18650	0.994000	0.84299	0.042000	0.13949	-0.480000	0.06803	0.561000	0.74099	ACC	.		0.602	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			T	97096405	G	T	97096405	3	4	14	1	0	0	0	0	1	0	0	0	14972	1261	44	3	446	3	SORBS1	10	97096405	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		97096405	38438342	39	3168											
CNNM1	26507	bcgsc.ca	37	chr10	101147692	101147692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaaggcccccacaacccGgggcacaccccagaccccta	7	21	0	1	rs2298316	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr10:101147692G>A	ENST00000356713.4	+	8	2745	c.2456G>A	c.(2455-2457)cGg>cAg	p.R819Q	CNNM1_ENST00000370534.4_Missense_Mutation_p.R475Q|CNNM1_ENST00000446890.1_Missense_Mutation_p.R748Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.R748Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	819			R -> Q (in dbSNP:rs2298316).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCCACAACCCGGGGCACACCC	0.627													G|||	193	0.0385383	0.0015	0.0937	5008	,	,		18890	0.003		0.1074	False		,,,				2504	0.0153				p.R819Q		.											.	CNNM1-68	0			c.G2456A						.	G	GLN/ARG	101,4305	80.9+/-119.3	0,101,2102	48	49	49		2456	5.1	1	10	dbSNP_100	49	914,7686	201.6+/-245.0	60,794,3446	yes	missense	CNNM1	NM_020348.2	43	60,895,5548	AA,AG,GG		10.6279,2.2923,7.8041	possibly-damaging	819/952	101147692	1015,11991	2203	4300	6503	SO:0001583	missense	26507	exon8			CAACCCGGGGCAC	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2456G>A	10.37:g.101147692G>A	ENSP00000349147:p.Arg819Gln	Somatic	247	1		WXS	Illumina GAIIx	Phase_I	247	8	NM_020348	0	0	0	0	0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	114	0.0521978021978022	2	0.0040650406504065045	35	0.09668508287292818	1	0.0017482517482517483	76	0.10026385224274406	G	12.71	2.020394	0.35606	0.022923	0.106279	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.05	5.05	0.67936	.	0.101382	0.37761	N	0.001952	T	0.00440	0.0014	L	0.40543	1.245	0.35302	P	0.21687199999999995	P;P;P	0.48640	0.489;0.883;0.913	B;B;B	0.40602	0.096;0.334;0.201	T	0.07328	-1.0778	9	0.07030	T	0.85	-14.0957	16.9713	0.86301	0.0:0.0:1.0:0.0	rs2298316;rs52818796;rs57619431;rs2298316	475;819;819	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	Q	819;748;748;475;272	ENSP00000349147:R819Q;ENSP00000406492:R748Q;ENSP00000359559:R748Q;ENSP00000359565:R475Q	ENSP00000349147:R819Q	R	+	2	0	CNNM1	101137682	0.869000	0.29996	1.000000	0.80357	0.971000	0.66376	2.716000	0.47219	2.493000	0.84123	0.655000	0.94253	CGG	G|0.935;A|0.065		0.627	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		A	101147692	G	A	101147692	3	1	14	1	0	0	0	0	1	0	0	0	3619	1116	39	1	2486	1	CNNM1	10	101147692	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	4051287	101147692	34387055	40	3169											
IGSF22	283284	broad.mit.edu;bcgsc.ca	37	chr11	18736089	18736089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccctccaccttctcgtcAttcagcactacacacaactc	2	19	3	0			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:18736089A>G	ENST00000513874.1	-	12	1753	c.1614T>C	c.(1612-1614)aaT>aaC	p.N538N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	538										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTTCTCGTCATTCAGCACTA	0.612																																					p.N538N		.											.	IGSF22-140	0			c.T1614C						.						132	143	139					11																	18736089		2154	4243	6397	SO:0001819	synonymous_variant	283284	exon12			CTCGTCATTCAGC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1614T>C	11.37:g.18736089A>G		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	169	11	NM_173588	0	0	0	0	0	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																			.		0.612	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		G	18736089	A	G	18736089	2	3	14	1	0	0	0	0	0	0	0	1	7627	214	8	4		4	IGSF22	11	18736089	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10		18736089	116270427	41	3170											
OR5D13	390142	broad.mit.edu	37	chr11	55541042	55541042	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacacagtcactgtagtgggGaacttgggcatgataataat	11	6	1	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:55541042G>A	ENST00000361760.1	+	1	129	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGTAGTGGGGAACTTGGGCA	0.403																																					p.G43G		.											.	OR5D13-71	0			c.G129A						.						160	150	153					11																	55541042		2200	4296	6496	SO:0001819	synonymous_variant	390142	exon1			AGTGGGGAACTTG	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.129G>A	11.37:g.55541042G>A		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_001001967	0	0	0	0	0	Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	CCDS31507.1																																																																																			.		0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		A	55541042	G	A	55541042	2	1	14	1	0	0	0	0	0	0	0	1	11193	1161	41	3		3	OR5D13	11	55541042	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	36804953	55541042	79465474	42	3171											
RAB3IL1	5866	broad.mit.edu	37	chr11	61672084	61672084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgaagccaccggctcaAtggtgagcgtgttgtcctcc	12	13	2	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:61672084A>G	ENST00000394836.2	-	7	990	c.833T>C	c.(832-834)aTt>aCt	p.I278T	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.I252T	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	278					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CACCGGCTCAATGGTGAGCGT	0.647																																					p.I278T		.											.	RAB3IL1-228	0			c.T833C						.						84	64	71					11																	61672084		2202	4299	6501	SO:0001583	missense	5866	exon7			GGCTCAATGGTGA	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.833T>C	11.37:g.61672084A>G	ENSP00000378313:p.Ile278Thr	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	208	6	NM_013401	0	0	0	0	0	Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564873	0.86439	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.52057	0.68;0.68	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69024	0.3065	M	0.85299	2.745	0.46749	D	0.999188	D;D	0.59767	0.986;0.963	P;P	0.61800	0.894;0.704	T	0.75833	-0.3178	10	0.87932	D	0	-18.3907	14.9437	0.71014	1.0:0.0:0.0:0.0	.	252;278	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	T	278;252	ENSP00000378313:I278T;ENSP00000301773:I252T	ENSP00000301773:I252T	I	-	2	0	RAB3IL1	61428660	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	9.287000	0.95975	2.146000	0.66826	0.379000	0.24179	ATT	.		0.647	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		G	61672084	A	G	61672084	3	3	14	1	0	0	0	0	1	0	0	0	12982	101	4	4	331	4	RAB3IL1	11	61672084	Missense_Mutation	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	6131042	61672084	73334432	43	3172											
GPR137	56834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64054094	64054094	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacagctgcctacaccacccTgtatgccctgctcttcttct	6	17	3	0			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:64054094T>A	ENST00000313074.3	+	1	203	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.L91Q|GPR137_ENST00000438980.2_Missense_Mutation_p.L33Q|GPR137_ENST00000539851.1_Missense_Mutation_p.L33Q|GPR137_ENST00000377702.4_Missense_Mutation_p.L33Q|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000544785.1_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	33						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TACACCACCCTGTATGCCCTG	0.617																																					p.L91Q		.											.	GPR137-68	0			c.T272A						.						122	111	115					11																	64054094		2201	4297	6498	SO:0001583	missense	56834	exon3			CCACCCTGTATGC	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.98T>A	11.37:g.64054094T>A	ENSP00000321698:p.Leu33Gln	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	108	38	NM_001170726	0	0	0	0	0	B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159027	0.78226	.	.	ENSG00000173264	ENST00000546139;ENST00000538244;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	4.19	4.19	0.49359	.	0.000000	0.53938	D	0.000045	T	0.20373	0.0490	L	0.39898	1.24	0.42107	D	0.991362	B;P;B;B;B;P;B	0.48503	0.151;0.911;0.151;0.343;0.151;0.729;0.343	B;P;B;B;B;B;B	0.48400	0.283;0.576;0.283;0.191;0.283;0.373;0.283	T	0.01621	-1.1310	10	0.87932	D	0	-8.1984	11.2254	0.48880	0.0:0.0:0.0:1.0	.	33;91;39;33;33;33;33	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	Q	39;33;91;33;33;33;33;33;33;33;33;33;33;33;33	ENSP00000445570:L39Q;ENSP00000442322:L33Q;ENSP00000411827:L91Q;ENSP00000442792:L33Q;ENSP00000438716:L33Q;ENSP00000366931:L33Q;ENSP00000446342:L33Q;ENSP00000441003:L33Q;ENSP00000445000:L33Q;ENSP00000446387:L33Q;ENSP00000415698:L33Q;ENSP00000321698:L33Q;ENSP00000441034:L33Q;ENSP00000442929:L33Q	ENSP00000321698:L33Q	L	+	2	0	GPR137	63810670	1.000000	0.71417	0.094000	0.20943	0.982000	0.71751	7.813000	0.86123	1.760000	0.52011	0.459000	0.35465	CTG	.		0.617	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		A	64054094	T	A	64054094	3	1	14	1	0	0	0	0	1	0	0	0	6671	1580	55	5	282	5	GPR137	11	64054094	Missense_Mutation	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	2382010	64054094	70952422	44	3173											
EFEMP2	30008	broad.mit.edu;bcgsc.ca	37	chr11	65638718	65638718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcgggggtccctcgcCgtgtaggtcgttgatgacgg	19	9	0	2	rs2234462	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:65638718C>T	ENST00000307998.6	-	4	507	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.G93S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	93					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGTCCCTCGCCGTGTAGGTCG	0.652													C|||	3	0.000599042	0	0	5008	,	,		17281	0		0.003	False		,,,				2504	0				p.G93S		.											.	EFEMP2-91	0			c.G277A						.	C	SER/GLY	3,4399	6.2+/-15.9	0,3,2198	93	102	99		277	1.9	0.8	11	dbSNP_98	99	36,8556	24.6+/-71.5	0,36,4260	no	missense	EFEMP2	NM_016938.4	56	0,39,6458	TT,TC,CC		0.419,0.0682,0.3001	benign	93/444	65638718	39,12955	2201	4296	6497	SO:0001583	missense	30008	exon4			CCTCGCCGTGTAG	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.277G>A	11.37:g.65638718C>T	ENSP00000309953:p.Gly93Ser	Somatic	221	2		WXS	Illumina GAIIx	Phase_I	176	8	NM_016938	0	0	0	0	0	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	8.768	0.925137	0.18056	6.82E-4	0.00419	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;T;D;T	0.82167	-1.53;-1.45;-1.58;-0.43	4.79	1.86	0.25419	.	0.831981	0.10104	N	0.715577	T	0.65554	0.2702	N	0.16478	0.41	0.09310	N	1	B;B	0.18166	0.026;0.001	B;B	0.08055	0.003;0.0	T	0.47005	-0.9150	10	0.08837	T	0.75	.	6.8928	0.24238	0.0:0.6215:0.0:0.3785	rs2234462	93;93	E9PRU1;O95967	.;FBLN4_HUMAN	S	93	ENSP00000434151:G93S;ENSP00000309953:G93S;ENSP00000435419:G93S;ENSP00000435963:G93S	ENSP00000309953:G93S	G	-	1	0	EFEMP2	65395294	0.069000	0.21087	0.810000	0.32431	0.900000	0.52787	0.049000	0.14099	0.221000	0.20879	0.655000	0.94253	GGC	C|0.998;T|0.002		0.652	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		T	65638718	C	T	65638718	3	4	14	1	0	0	0	0	1	0	0	0	4956	652	23	1	1086	1	EFEMP2	11	65638718	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	1584624	65638718	69367798	45	3174											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	14	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	140872	65779590	69226926	46	3175											
SPTBN2	6712	broad.mit.edu	37	chr11	66472762	66472762	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggctgaggccaggaggTgctgctgctcccgcacccag	15	14	0	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:66472762T>G	ENST00000533211.1	-	15	2316	c.1985A>C	c.(1984-1986)cAc>cCc	p.H662P	SPTBN2_ENST00000309996.2_Missense_Mutation_p.H662P|SPTBN2_ENST00000529997.1_Missense_Mutation_p.H662P			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	662					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						GGCCAGGAGGTGCTGCTGCTC	0.721																																					p.H662P		.											.	SPTBN2-155	0			c.A1985C						.						7	10	9					11																	66472762		2107	4173	6280	SO:0001583	missense	6712	exon14			AGGAGGTGCTGCT	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.1985A>C	11.37:g.66472762T>G	ENSP00000432568:p.His662Pro	Somatic	31	4		WXS	Illumina GAIIx	Phase_I	71	15	NM_006946	0	0	0	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227423	0.39399	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.47528	0.84;0.84;0.84	4.55	4.55	0.56014	.	0.063428	0.64402	D	0.000004	T	0.18509	0.0444	N	0.01493	-0.835	0.36830	D	0.886832	B	0.06786	0.001	B	0.11329	0.006	T	0.14364	-1.0475	10	0.21014	T	0.42	.	7.8237	0.29303	0.0:0.0956:0.0:0.9044	.	662	O15020	SPTN2_HUMAN	P	662	ENSP00000432568:H662P;ENSP00000311489:H662P;ENSP00000433593:H662P	ENSP00000311489:H662P	H	-	2	0	SPTBN2	66229338	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.995000	0.49441	1.904000	0.55121	0.402000	0.26972	CAC	.		0.721	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		G	66472762	T	G	66472762	3	3	14	1	0	0	0	0	1	0	0	0	15167	1696	59	5	5283	5	SPTBN2	11	66472762	Missense_Mutation	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	693172	66472762	68533754	47	3176											
UNC93B1	81622	broad.mit.edu	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	10	15	2	0			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.		.											.	.	0			.						.						10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G		Somatic	89	1		WXS	Illumina GAIIx	Phase_I	109	4	.	0	0	0	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																				.		0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		G	67763107	A	G	67763107	2	3	14	1	0	0	0	0	0	0	0	1	17046	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	1290345	67763107	67243409	48	3177											
BUD13	84811	bcgsc.ca	37	chr11	116633825	116633825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaggggagaaggatcCggggtgtcatgacgggccct	17	10	2	3	rs918144	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr11:116633825C>T	ENST00000260210.4	-	4	503	c.480G>A	c.(478-480)ccG>ccA	p.P160P	BUD13_ENST00000375445.3_Silent_p.P160P	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	160	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	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;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GAGAAGGATCCGGGGTGTCAT	0.607													T|||	2730	0.545128	0.6785	0.6023	5008	,	,		16203	0.381		0.4821	False		,,,				2504	0.5583				p.P160P		.											.	BUD13-154	0			c.G480A						.	T	,	2736,1666	507.1+/-366.6	830,1076,295	98	106	103		480,480	-5	0	11	dbSNP_86	103	4094,4498	588.7+/-392.4	960,2174,1162	no	coding-synonymous,coding-synonymous	BUD13	NM_001159736.1,NM_032725.3	,	1790,3250,1457	TT,TC,CC		47.649,37.8464,47.4373	,	160/486,160/620	116633825	6830,6164	2201	4296	6497	SO:0001819	synonymous_variant	84811	exon4			AGGATCCGGGGTG	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.480G>A	11.37:g.116633825C>T		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	119	5	NM_001159736	0	0	0	0	0	A8K0S0|Q96LS7	Silent	SNP	ENST00000260210.4	37	CCDS8374.1																																																																																			C|0.470;T|0.530		0.607	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		T	116633825	C	T	116633825	2	4	14	1	0	0	0	0	0	0	0	1	1577	639	23	1		1	BUD13	11	116633825	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	48870718	116633825	18372691	49	3178											
ATN1	1822	ucsc.edu	37	chr12	7045912	7045912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	13	14	0	0	rs144280633	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																					p.Q494Q		.											.	ATN1-139	0			c.G1482A						.						39	49	46					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A		Somatic	156	2		WXS	Illumina GAIIx	Phase_I	157	24	NM_001007026	0	0	0	0	0	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			G|0.972;A|0.028		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045912	G	A	7045912	2	1	14	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045912	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		7045912	126805983	50	3179											
KRT81	3887	broad.mit.edu	37	chr12	52680108	52680108	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataccacaggagcccacgccGcaggaaccccctccgcaggt	10	18	0	0	rs370312171		TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr12:52680108G>T	ENST00000327741.5	-	9	1517	c.1449C>A	c.(1447-1449)tgC>tgA	p.C483*	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	483	Tail.					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)		AGCCCACGCCGCAGGAACCCC	0.667																																					p.C483X		.											.	KRT81-90	0			c.C1449A						.						30	27	28					12																	52680108		2155	4225	6380	SO:0001587	stop_gained	3887	exon9			CACGCCGCAGGAA	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.1449C>A	12.37:g.52680108G>T	ENSP00000369349:p.Cys483*	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	247	6	NM_002281	0	0	0	0	0	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Nonsense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691862	0.48097	.	.	ENSG00000205426	ENST00000327741	.	.	.	3.32	-4.06	0.03986	.	.	.	.	.	.	.	.	.	.	.	0.29491	N	0.855666	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	0.7309	0.00957	0.2063:0.2026:0.338:0.253	.	.	.	.	X	483	.	ENSP00000369349:C483X	C	-	3	2	KRT81	50966375	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.662000	0.05305	-0.678000	0.05224	-0.448000	0.05591	TGC	.		0.667	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		T	52680108	G	T	52680108	4	4	14	1	0	0	0	0	0	1	0	0	8522	1079	38	2	72	2	KRT81	12	52680108	Nonsense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	45634196	52680108	81171787	51	3180											
C14orf39	317761	ucsc.edu	37	chr14	60932752	60932752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagctttgactgcttcGcagaactttcttcttttata	7	9	2	2	rs12586711	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr14:60932752G>A	ENST00000321731.3	-	11	1076	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	306				A -> V (in Ref. 1; BAC05253). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGACTGCTTCGCAGAACTTTC	0.313													g|||	1079	0.215455	0.0393	0.121	5008	,	,		14149	0.5516		0.2197	False		,,,				2504	0.1697				p.A306V		.											.	C14orf39-94	0			c.C917T						.	G	VAL/ALA	346,4056	178.0+/-206.8	13,320,1868	50	51	51		917	-1.9	0	14	dbSNP_120	51	1800,6794	318.0+/-313.5	181,1438,2678	yes	missense	C14orf39	NM_174978.2	64	194,1758,4546	AA,AG,GG		20.9448,7.8601,16.5128	benign	306/588	60932752	2146,10850	2201	4297	6498	SO:0001583	missense	317761	exon11			TGCTTCGCAGAAC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.917C>T	14.37:g.60932752G>A	ENSP00000324920:p.Ala306Val	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_174978	0	0	0	0	0	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	542	0.24816849816849818	15	0.03048780487804878	57	0.1574585635359116	302	0.527972027972028	168	0.22163588390501318	g	0.009	-1.801153	0.00611	0.078601	0.209448	ENSG00000179008	ENST00000321731	T	0.22134	1.97	5.68	-1.88	0.07713	.	1.276350	0.05272	N	0.517772	T	0.00012	0.0000	N	0.01267	-0.92	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45745	-0.9240	9	0.13108	T	0.6	2.3088	10.289	0.43584	0.4884:0.0:0.5116:0.0	rs12586711;rs12586711	306	Q8N1H7	S6OS1_HUMAN	V	306	ENSP00000324920:A306V	ENSP00000324920:A306V	A	-	2	0	C14orf39	60002505	0.000000	0.05858	0.025000	0.17156	0.142000	0.21351	0.038000	0.13862	-0.110000	0.12022	-1.068000	0.02270	GCG	G|0.800;A|0.200		0.313	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60932752	G	A	60932752	3	1	14	1	0	0	0	0	1	0	0	0	1777	1087	38	1	878	1	C14orf39	14	60932752	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		60932752	46416788	52	3181											
SPTB	6710	bcgsc.ca	37	chr14	65242044	65242044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcagtcgatctccgcCgcctccaccagctgctgccc	9	20	1	0	rs184528	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr14:65242044C>T	ENST00000389721.5	-	22	4673	c.4641G>A	c.(4639-4641)gcG>gcA	p.A1547A	SPTB_ENST00000389722.3_Silent_p.A1547A|SPTB_ENST00000389720.3_Silent_p.A1547A|SPTB_ENST00000556626.1_Silent_p.A1547A|SPTB_ENST00000542895.1_Silent_p.A1547A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1547					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGATCTCCGCCGCCTCCACCA	0.672													C|||	2064	0.412141	0.7746	0.2493	5008	,	,		19430	0.3671		0.1938	False		,,,				2504	0.3088				p.A1547A		.											.	SPTB-100	0			c.G4641A						.	C	,	2996,1410	675.0+/-403.0	1028,940,235	32	26	28		4641,4641	-5	0	14	dbSNP_79	28	1518,7082	281.7+/-295.2	114,1290,2896	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	1142,2230,3131	TT,TC,CC		17.6512,32.0018,34.7071	,	1547/2138,1547/2329	65242044	4514,8492	2203	4300	6503	SO:0001819	synonymous_variant	6710	exon22			CTCCGCCGCCTCC		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4641G>A	14.37:g.65242044C>T		Somatic	128	1		WXS	Illumina GAIIx	Phase_I	121	6	NM_000347	0	0	0	0	0	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																			C|0.642;T|0.358		0.672	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65242044	C	T	65242044	2	4	14	1	0	0	0	0	0	0	0	1	15165	639	23	1		1	SPTB	14	65242044	Silent	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	4309292	65242044	42107496	53	3182											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001823	0	0	0	0	0	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	14	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	38746136	103988180	3361360	54	3183											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	14	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10	655919	104644099	2705441	55	3184											
TYRO3	7301	bcgsc.ca	37	chr15	41862356	41862356	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagagacgcggtttgggTaaggggatggggatgtggag	22	2	0	1	rs149022093		TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr15:41862356T>C	ENST00000263798.3	+	10	1606		c.e10+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						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)		GCGGTTTGGGTAAGGGGATGG	0.567																																					.		.											.	TYRO3-1388	0			c.1382+2T>C						.						76	75	75					15																	41862356		2203	4300	6503	SO:0001630	splice_region_variant	7301	exon10			TTTGGGTAAGGGG	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.1382+2T>C	15.37:g.41862356T>C		Somatic	151	2		WXS	Illumina GAIIx	Phase_I	106	8	NM_006293	0	0	0	0	0	O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181954	0.78677	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3401	0.74290	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39649648	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.789000	0.75110	2.208000	0.71279	0.533000	0.62120	.	T|0.999;C|0.001		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		Intron	C	41862356	T	C	41862356	5	2	14	1	0	0	0	0	0	0	1	0	16863	1652	57	4	1422	4	TYRO3	15	41862356	Splice_Site	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10		41862356	60669036	56	3185											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	14	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		3304573	87050180	57	3186											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	14	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JH-01A-11D-A30A-10	85295124	88599697	1755056	58	3187											
SEPT9	10801	broad.mit.edu	37	chr17	75483522	75483522	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcagagcggcttgggTaaatccaccttaatcaacac	10	12	1	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr17:75483522T>G	ENST00000427177.1	+	5	1056	c.930T>G	c.(928-930)ggT>ggG	p.G310G	SEPT9_ENST00000329047.8_Silent_p.G292G|SEPT9_ENST00000591198.1_Silent_p.G291G|SEPT9_ENST00000591088.1_Silent_p.G59G|SEPT9_ENST00000541152.2_Silent_p.G59G|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000590294.1_Silent_p.G292G|SEPT9_ENST00000427180.1_Silent_p.G198G|SEPT9_ENST00000449803.2_Silent_p.G146G|SEPT9_ENST00000427674.2_Silent_p.G146G|SEPT9_ENST00000588690.1_Silent_p.G146G|SEPT9_ENST00000431235.2_Silent_p.G146G|SEPT9_ENST00000585930.1_Silent_p.G86G|SEPT9_ENST00000590917.1_Nonstop_Mutation_p.*58E|SEPT9_ENST00000592951.1_Silent_p.G59G|SEPT9_ENST00000423034.2_Silent_p.G303G	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	310	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGGCTTGGGTAAATCCACCT	0.607																																					p.G310G		.											.	SEPT9-659	0			c.T930G						.						41	44	43					17																	75483522		2022	4171	6193	SO:0001819	synonymous_variant	10801	exon5			CTTGGGTAAATCC	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.930T>G	17.37:g.75483522T>G		Somatic	184	10		WXS	Illumina GAIIx	Phase_I	216	26	NM_001113491	0	0	0	0	0	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	CCDS45790.1																																																																																			.		0.607	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		G	75483522	T	G	75483522	2	3	14	1	0	0	0	0	0	0	0	1	14116	1625	57	5		5	SEPT9	17	75483522	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10		75483522	5711688	59	3188											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000417379.1_Missense_Mutation_p.A438T|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	14	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	3612593	79096115	2099095	60	3189											
PTPN2	5771	broad.mit.edu	37	chr18	12794285	12794285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaattgtttatagggCattttgctgaaaaaacagtg	8	3	0	1			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr18:12794285C>A	ENST00000309660.5	-	9	1333	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591497.1_Missense_Mutation_p.A385S|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000591115.1_Intron	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	414	Endoplasmic reticulum location.|Mediates interaction with STX17.				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)				GTTTATAGGGCATTTTGCTGA	0.418																																					p.A414S		.											.	PTPN2-652	0			c.G1240T						.						94	84	87					18																	12794285		2203	4300	6503	SO:0001583	missense	5771	exon9			ATAGGGCATTTTG	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.1240G>T	18.37:g.12794285C>A	ENSP00000311857:p.Ala414Ser	Somatic	69	1		WXS	Illumina GAIIx	Phase_I	83	8	NM_002828	0	0	0	0	0	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.051055	0.00394	.	.	ENSG00000175354	ENST00000341361;ENST00000309660	T	0.03982	3.74	5.64	0.701	0.18104	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45789	-0.9237	9	0.54805	T	0.06	.	0.6337	0.00799	0.2272:0.3402:0.1199:0.3127	.	414	P17706	PTN2_HUMAN	S	391;414	ENSP00000311857:A414S	ENSP00000311857:A414S	A	-	1	0	PTPN2	12784285	0.138000	0.22547	0.024000	0.17045	0.010000	0.07245	0.084000	0.14891	0.283000	0.22279	-0.244000	0.11960	GCC	.		0.418	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		A	12794285	C	A	12794285	3	1	14	1	0	0	0	0	1	0	0	0	12828	710	25	3	37	3	PTPN2	18	12794285	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10		12794285	65282963	61	3190											
DOT1L	84444	hgsc.bcm.edu	37	chr19	2226847	2226847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctcctcagcggccccGgcctggccccggcggcgtcc	14	20	1	0	rs113842228	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr19:2226847G>T	ENST00000398665.3	+	27	4363	c.4327G>T	c.(4327-4329)Ggc>Tgc	p.G1443C		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1443					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)		CAGCGGCCCCGGCCTGGCCCC	0.756													G|||	84	0.0167732	0.0038	0.0231	5008	,	,		9311	0		0.0537	False		,,,				2504	0.0092				p.G1443C		.											.	DOT1L-132	0			c.G4327T						.	G	CYS/GLY	26,3442		0,26,1708	10	15	13		4327	2.3	0.3	19	dbSNP_132	13	448,7466		10,428,3519	no	missense	DOT1L	NM_032482.2	159	10,454,5227	TT,TG,GG		5.6609,0.7497,4.1645	probably-damaging	1443/1538	2226847	474,10908	1734	3957	5691	SO:0001583	missense	84444	exon27			GGCCCCGGCCTGG	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.4327G>T	19.37:g.2226847G>T	ENSP00000381657:p.Gly1443Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_032482	0	0	0	0	0	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	54	0.024725274725274724	2	0.0040650406504065045	10	0.027624309392265192	0	0.0	42	0.055408970976253295	G	13.49	2.251444	0.39797	0.007497	0.056609	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.36157	1.7;1.27	4.42	2.27	0.28462	.	0.254426	0.28140	N	0.016452	T	0.09202	0.0227	L	0.60455	1.87	0.31449	N	0.670931	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.969	T	0.26883	-1.0090	10	0.87932	D	0	-19.5441	7.0964	0.25311	0.2968:0.0:0.7031:0.0	.	1443;1443	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	C	1443;1443;323	ENSP00000381657:G1443C;ENSP00000407411:G323C	ENSP00000221482:G1443C	G	+	1	0	DOT1L	2177847	0.951000	0.32395	0.333000	0.25482	0.151000	0.21798	1.689000	0.37700	0.846000	0.35142	-0.258000	0.10820	GGC	G|0.970;T|0.030		0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2226847	G	T	2226847	3	4	14	1	0	0	0	0	1	0	0	0	4723	1116	39	2	4433	2	DOT1L	19	2226847	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10		2226847	56902136	62	3191											
OR10H5	284433	bcgsc.ca	37	chr19	15905661	15905661	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagcccaaaggtccccagtCtccggaaggagacaccttga	11	13	1	2	rs67455341	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr19:15905661C>A	ENST00000308940.8	+	1	901	c.803C>A	c.(802-804)tCt>tAt	p.S268Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGTCCCCAGTCTCCGGAAGGA	0.577													.|||	1121	0.223842	0.3812	0.2565	5008	,	,		16995	0.002		0.2952	False		,,,				2504	0.1431				p.S268Y		.											.	OR10H5-69	0			c.C803A						.	C	TYR/SER	1626,2780		303,1020,880	114	93	100		803	2.7	0	19	dbSNP_130	100	2161,6439		294,1573,2433	no	missense	OR10H5	NM_001004466.1	144	597,2593,3313	AA,AC,CC		25.1279,36.9042,29.1173	possibly-damaging	268/316	15905661	3787,9219	2203	4300	6503	SO:0001583	missense	284433	exon1			CCCAGTCTCCGGA	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.803C>A	19.37:g.15905661C>A	ENSP00000310704:p.Ser268Tyr	Somatic	280	1		WXS	Illumina GAIIx	Phase_I	350	12	NM_001004466	0	0	0	0	0	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	515	0.2358058608058608	177	0.3597560975609756	114	0.3149171270718232	1	0.0017482517482517483	223	0.2941952506596306	.	8.445	0.851648	0.17034	0.369042	0.251279	ENSG00000172519	ENST00000308940	T	0.00277	8.34	3.88	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.449535	0.18991	N	0.125583	T	0.00012	0.0000	M	0.85859	2.78	0.80722	P	0.0	D	0.53312	0.959	P	0.62649	0.905	T	0.36261	-0.9755	9	0.72032	D	0.01	.	9.6663	0.39986	0.0:0.6307:0.3693:0.0	.	268	Q8NGA6	O10H5_HUMAN	Y	268	ENSP00000310704:S268Y	ENSP00000310704:S268Y	S	+	2	0	OR10H5	15766661	0.000000	0.05858	0.019000	0.16419	0.035000	0.12851	0.184000	0.16939	1.878000	0.54408	0.585000	0.79938	TCT	C|0.733;A|0.267		0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			A	15905661	C	A	15905661	3	1	14	1	0	0	0	0	1	0	0	0	10948	913	32	3	805	3	OR10H5	19	15905661	Missense_Mutation	SNP	C	TCGA-OR-A5JH-01A-11D-A30A-10	13678814	15905661	43223322	63	3192											
ZNF626	199777	hgsc.bcm.edu;bcgsc.ca	37	chr19	20807300	20807300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttagaggagcacttaaaAgctttgccacattcttcaca	8	9	2	1	rs4808252	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr19:20807300A>G	ENST00000601440.1	-	4	1529	c.1383T>C	c.(1381-1383)gcT>gcC	p.A461A	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	461					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)|lung(3)|skin(1)	6						AGCACTTAAAAGCTTTGCCAC	0.398													a|||	2084	0.416134	0.2511	0.4971	5008	,	,		9335	0.4415		0.5169	False		,,,				2504	0.4519				p.A461A		.											.	ZNF626-515	0			c.T1383C						.						39	19	25					19																	20807300		1888	3740	5628	SO:0001819	synonymous_variant	199777	exon4			CTTAAAAGCTTTG	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1383T>C	19.37:g.20807300A>G		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	29	4	NM_001076675	0	0	0	0	0	Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																			A|0.500;G|0.500		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		G	20807300	A	G	20807300	2	3	14	1	0	0	0	0	0	0	0	1	18098	59	3	4		4	ZNF626	19	20807300	Silent	SNP	A	TCGA-OR-A5JH-01A-11D-A30A-10	4901639	20807300	38321683	64	3193											
ZNF568	374900	broad.mit.edu	37	chr19	37441073	37441073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctatgaatgtaaggaatgtGggaaatccttcagccagaag	11	7	1	2			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr19:37441073G>T	ENST00000333987.7	+	7	1524	c.1018G>T	c.(1018-1020)Ggg>Tgg	p.G340W	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.G276W|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGAATGTGGGAAATCCTT	0.398																																					p.G340W		.											.	ZNF568-136	0			c.G1018T						.						59	66	64					19																	37441073		2202	4296	6498	SO:0001583	missense	374900	exon7			GAATGTGGGAAAT	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1018G>T	19.37:g.37441073G>T	ENSP00000334685:p.Gly340Trp	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	96	4	NM_198539	0	0	0	0	0	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113185	0.56398	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08008	3.14;3.14	4.22	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.208891	0.24222	N	0.040424	T	0.36166	0.0957	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41431	-0.9509	10	0.87932	D	0	.	9.8764	0.41207	0.1023:0.0:0.8977:0.0	.	340	Q3ZCX4	ZN568_HUMAN	W	340;276	ENSP00000334685:G340W;ENSP00000394514:G276W	ENSP00000334685:G340W	G	+	1	0	ZNF568	42132913	0.995000	0.38212	0.959000	0.39883	0.997000	0.91878	3.013000	0.49582	1.118000	0.41863	0.655000	0.94253	GGG	.		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		T	37441073	G	T	37441073	3	4	14	1	0	0	0	0	1	0	0	0	18047	1348	47	3	1036	3	ZNF568	19	37441073	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	16633773	37441073	21687910	65	3194											
ISX	91464	broad.mit.edu;bcgsc.ca	37	chr22	35480438	35480438	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagattggcaacctgggggcTccacagcagctgagtgaagc	14	10	0	3			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chr22:35480438T>G	ENST00000308700.6	+	3	1396	c.444T>G	c.(442-444)gcT>gcG	p.A148A	ISX_ENST00000404699.2_Silent_p.A148A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	148					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						ACCTGGGGGCTCCACAGCAGC	0.562																																					p.A148A		.											.	ISX-95	0			c.T444G						.						59	52	55					22																	35480438		2203	4300	6503	SO:0001819	synonymous_variant	91464	exon3			GGGGGCTCCACAG	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.444T>G	22.37:g.35480438T>G		Somatic	78	1		WXS	Illumina GAIIx	Phase_I	107	8	NM_001008494	0	0	0	0	0	Q68DJ5	Silent	SNP	ENST00000308700.6	37	CCDS33640.1																																																																																			.		0.562	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		G	35480438	T	G	35480438	2	3	14	1	0	0	0	0	0	0	0	1	7892	1538	54	5		5	ISX	22	35480438	Silent	SNP	T	TCGA-OR-A5JH-01A-11D-A30A-10		35480438	15824128	66	3195											
AR	367	hgsc.bcm.edu	37	chrX	66765159	66765182	+	In_Frame_Del	DEL	GCAGCAGCAGCAGCAGCAGCAGCA	GCAGCAGCAGCAGCAGCAGCAGCA	-													ggcgccagtttgctgctgctGcagcagcagcagcagcagca					rs137852575|rs200185441|rs62636528|rs62636527	byFrequency	TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	GCAGCAGCAGCAGCAGCAGCAGCA	GCAGCAGCAGCAGCAGCAGCAGCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chrX:66765159_66765182delGCAGCAGCAGCAGCAGCAGCAGCA	ENST00000374690.3	+	1	695_718	c.171_194delGCAGCAGCAGCAGCAGCAGCAGCA	c.(169-195)ctgcagcagcagcagcagcagcagcag>ctg	p.QQQQQQQQ66del	AR_ENST00000396044.3_In_Frame_Del_p.QQQQQQQQ66del|AR_ENST00000504326.1_In_Frame_Del_p.QQQQQQQQ66del|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	66	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcagcagcagcagcagcagcag	0.656									Androgen Insensitivity Syndrome																												p.57_65del		.											.	AR-661	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.171_194del	GRCh37	CD991588|CI065812|CI994028|CM033749|CM054646|CM930034	AR	D|I|M	rs137852575|rs5902610	.																																			SO:0001651	inframe_deletion	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	GCTGCTGCAGCAG	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.171_194delGCAGCAGCAGCAGCAGCAGCAGCA	X.37:g.66765159_66765182delGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000363822:p.Gln66_Gln73del	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	118	24	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	CCDS14387.1																																																																																			.		0.656	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		-	66765182	GCAGCAGCAGCAGCAGCAGCAGCA	-	66765159	7	5	14	1	0	1	0	1	0	0	0	0	836	1306	46	0	173	0	AR	23	66765159	In_Frame_Del	DEL	GCAGCAGCAGCAGCAGCAGCAGCA	TCGA-OR-A5JH-01A-11D-A30A-10		66765159	88505401	67	3196											
GPRASP2	114928	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	101971094	101971094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaagtccagtttggggGctgtggccagagaagaggcc	17	7	0	2			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chrX:101971094G>T	ENST00000535209.1	+	4	2128	c.1297G>T	c.(1297-1299)Gct>Tct	p.A433S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A433S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A433S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	433						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGTTTGGGGGCTGTGGCCAG	0.572																																					p.A433S		.											.	GPRASP2-131	0			c.G1297T						.						81	80	80					X																	101971094		2203	4300	6503	SO:0001583	missense	114928	exon4			TTGGGGGCTGTGG	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1297G>T	X.37:g.101971094G>T	ENSP00000437394:p.Ala433Ser	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	204	12	NM_138437	0	0	0	0	0	D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222843	0.22457	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08807	3.05;3.05;3.05	4.44	4.44	0.53790	.	0.000000	0.42420	D	0.000714	T	0.05502	0.0145	L	0.35414	1.06	0.30743	N	0.745959	B	0.30824	0.296	B	0.23419	0.046	T	0.14254	-1.0479	10	0.10902	T	0.67	.	9.5262	0.39165	0.0:0.2088:0.7912:0.0	.	433	Q96D09	GASP2_HUMAN	S	433	ENSP00000437872:A433S;ENSP00000437394:A433S;ENSP00000339057:A433S	ENSP00000339057:A433S	A	+	1	0	GPRASP2	101857750	0.947000	0.32204	0.995000	0.50966	0.990000	0.78478	1.900000	0.39828	2.458000	0.83093	0.600000	0.82982	GCT	.		0.572	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		T	101971094	G	T	101971094	3	4	14	1	0	0	0	0	1	0	0	0	6750	1203	42	3	1299	3	GPRASP2	23	101971094	Missense_Mutation	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	35205935	101971094	53299466	68	3197											
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153032639	153032639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgacaatgccaaccagctGctgctggtgagcagccgcgc	12	14	0	2			TCGA-OR-A5JH-01A-11D-A30A-10	TCGA-OR-A5JH-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	4eaa9703-dace-478d-b1ea-7c326ad34362	da172edc-7af4-48d6-bbab-2cf091662641	g.chrX:153032639G>A	ENST00000361971.5	+	3	471	c.357G>A	c.(355-357)ctG>ctA	p.L119L	U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.L142L|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	119	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					CCAACCAGCTGCTGCTGGTGA	0.677																																					p.L142L		.											.	PLXNB3-130	0			c.G426A						.						16	15	15					X																	153032639		2184	4287	6471	SO:0001819	synonymous_variant	5365	exon4			CCAGCTGCTGCTG	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.357G>A	X.37:g.153032639G>A		Somatic	72	1		WXS	Illumina GAIIx	Phase_I	151	38	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			.		0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153032639	G	A	153032639	2	1	14	1	0	0	0	0	0	0	0	1	12164	1306	46	3		3	PLXNB3	23	153032639	Silent	SNP	G	TCGA-OR-A5JH-01A-11D-A30A-10	51061545	153032639	2237921	69	3198											
TAS1R3	83756	bcgsc.ca	37	chr1	1268159	1268159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacgcctcaggctgcccCgcgcaggaccccgtgaagcc	12	18	1	1	rs3813210	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:1268159C>T	ENST00000339381.5	+	3	1280	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	416					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CAGGCTGCCCCGCGCAGGACC	0.652													c|||	704	0.140575	0.3185	0.1052	5008	,	,		17974	0.0794		0.0487	False		,,,				2504	0.0828				p.P416P		.											.	TAS1R3-22	0			c.C1248T						.	C		1174,3222		153,868,1177	23	25	24		1248	-3.8	0	1	dbSNP_107	24	342,8252		12,318,3967	no	coding-synonymous	TAS1R3	NM_152228.1		165,1186,5144	TT,TC,CC		3.9795,26.7061,11.6705		416/853	1268159	1516,11474	2198	4297	6495	SO:0001819	synonymous_variant	83756	exon3			CTGCCCCGCGCAG	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1248C>T	1.37:g.1268159C>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	129	5	NM_152228	0	0	4	4	0	Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	CCDS30556.1																																																																																			C|0.874;T|0.126		0.652	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			T	1268159	C	T	1268159	2	4	15	1	0	0	0	0	0	0	0	1	15611	639	23	1		1	TAS1R3	1	1268159	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		1268159	247982462	1	3199											
EVI5	7813	hgsc.bcm.edu	37	chr1	93091457	93091457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagttcttcctgaagccttGcaatattattctcatcagga	7	9	3	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:93091457G>T	ENST00000370331.1	-	13	1523	c.1514C>A	c.(1513-1515)gCa>gAa	p.A505E	EVI5_ENST00000543509.1_Missense_Mutation_p.A516E|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.A505E	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	505	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)			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)		CTGAAGCCTTGCAATATTATT	0.348																																					p.A505E		.											.	EVI5-136	0			c.C1514A						.						102	96	98					1																	93091457		2203	4300	6503	SO:0001583	missense	7813	exon13			AGCCTTGCAATAT	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.1514C>A	1.37:g.93091457G>T	ENSP00000359356:p.Ala505Glu	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_005665	0	0	0	0	0	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873853	0.72180	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.36699	1.24;1.24;1.24	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.65498	2.005	0.46586	D	0.999118	D;D	0.69078	0.997;0.992	D;D	0.71184	0.972;0.939	T	0.24012	-1.0172	10	0.22706	T	0.39	-14.0722	13.1954	0.59736	0.0726:0.0:0.9274:0.0	.	516;505	F5H4R0;O60447	.;EVI5_HUMAN	E	505;505;516;204	ENSP00000359356:A505E;ENSP00000440826:A505E;ENSP00000445019:A516E	ENSP00000345500:A204E	A	-	2	0	EVI5	92864045	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.154000	0.71826	2.723000	0.93209	0.585000	0.79938	GCA	.		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		T	93091457	G	T	93091457	3	4	15	1	0	0	0	0	1	0	0	0	5305	1319	46	3	942	3	EVI5	1	93091457	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	91823298	93091457	156159164	2	3200											
LCE1E	353135	broad.mit.edu	37	chr1	152760102	152760102	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgctgtggagggggCagcggccagcactctggagg	18	11	1	0	rs148574694		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:152760102C>A	ENST00000368770.3	+	2	380	c.327C>A	c.(325-327)ggC>ggA	p.G109G	LCE1E_ENST00000368771.1_Silent_p.G109G	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	109	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGAGGGGGCAGCGGCCAGC	0.612																																					p.G109G		.											.	LCE1E-90	0			c.C327A						.	C		1,4353		0,1,2176	40	58	52		327	-4.7	0	1	dbSNP_134	52	1,8573		0,1,4286	no	coding-synonymous	LCE1E	NM_178353.1		0,2,6462	AA,AC,CC		0.0117,0.023,0.0155		109/119	152760102	2,12926	2177	4287	6464	SO:0001819	synonymous_variant	353135	exon2			AGGGGGCAGCGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.327C>A	1.37:g.152760102C>A		Somatic	224	1		WXS	Illumina GAIIx	Phase_I	185	4	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			C|1.000;A|0.000		0.612	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		A	152760102	C	A	152760102	2	1	15	1	0	0	0	0	0	0	0	1	8691	697	25	3		3	LCE1E	1	152760102	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	59668645	152760102	96490519	3	3201											
F5	2153	bcgsc.ca	37	chr1	169510380	169510380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaaatgggcatctgaccGagggctggggaaaggtttgt	18	5	1	2	rs9287090	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:169510380G>A	ENST00000367797.3	-	13	4149	c.3948C>T	c.(3946-3948)ctC>ctT	p.L1316L	F5_ENST00000367796.3_Silent_p.L1321L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1316	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCATCTGACCGAGGGCTGGGG	0.498													G|||	1320	0.263578	0.1717	0.3948	5008	,	,		22137	0.248		0.2535	False		,,,				2504	0.3211				p.L1316L		.											.	F5-157	0			c.C3948T						.	G		821,3585	323.2+/-298.0	72,677,1454	249	273	265		3948	-4.7	0	1	dbSNP_119	265	2356,6244	393.5+/-344.4	300,1756,2244	no	coding-synonymous	F5	NM_000130.4		372,2433,3698	AA,AG,GG		27.3953,18.6337,24.4272		1316/2225	169510380	3177,9829	2203	4300	6503	SO:0001819	synonymous_variant	2153	exon13			CTGACCGAGGGCT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3948C>T	1.37:g.169510380G>A		Somatic	346	2		WXS	Illumina GAIIx	Phase_I	266	8	NM_000130	0	0	0	0	0	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																			G|0.758;A|0.242		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169510380	G	A	169510380	2	1	15	1	0	0	0	0	0	0	0	1	5364	1045	37	1		1	F5	1	169510380	Silent	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	16750278	169510380	79740241	4	3202											
LAMC2	3918	broad.mit.edu	37	chr1	183206566	183206566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatggatgagttcaagcGtacacagaagaatctgggaa	12	6	2	3	rs146907099		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:183206566G>A	ENST00000264144.4	+	18	2746	c.2681G>A	c.(2680-2682)cGt>cAt	p.R894H	LAMC2_ENST00000493293.1_Missense_Mutation_p.R894H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	894	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAGTTCAAGCGTACACAGAAG	0.428													G|||	1	0.000199681	0	0	5008	,	,		20945	0		0	False		,,,				2504	0.001				p.R894H		.											.	LAMC2-93	0			c.G2681A						.	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	102	105	104		2681,2681	-3.1	0	1	dbSNP_134	104	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	LAMC2	NM_005562.2,NM_018891.2	29,29	0,13,6490	AA,AG,GG		0.1279,0.0454,0.1	benign,benign	894/1194,894/1112	183206566	13,12993	2203	4300	6503	SO:0001583	missense	3918	exon18			TCAAGCGTACACA	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2681G>A	1.37:g.183206566G>A	ENSP00000264144:p.Arg894His	Somatic	426	1		WXS	Illumina GAIIx	Phase_I	324	6	NM_005562	0	0	4	4	0	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117464	0.08881	4.54E-4	0.001279	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17528	2.42;2.27	5.49	-3.1	0.05315	.	0.951330	0.08877	N	0.880564	T	0.08447	0.0210	N	0.12961	0.28	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.36529	-0.9744	10	0.33940	T	0.23	.	6.7147	0.23296	0.6057:0.0:0.2602:0.1341	.	894;894;894	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	894	ENSP00000432063:R894H;ENSP00000264144:R894H	ENSP00000264144:R894H	R	+	2	0	LAMC2	181473189	0.001000	0.12720	0.003000	0.11579	0.017000	0.09413	-0.333000	0.07894	-0.545000	0.06224	-0.768000	0.03414	CGT	G|0.999;A|0.001		0.428	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		A	183206566	G	A	183206566	3	1	15	1	0	0	0	0	1	0	0	0	8643	1145	40	1	2751	1	LAMC2	1	183206566	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	13696186	183206566	66044055	5	3203											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	15	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	45298104	228504670	20745951	6	3204											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	15	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10		1481231	241718142	7	3205											
SCRN3	79634	ucsc.edu	37	chr2	175292599	175292599	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaaatttatcagtcaaaTttatcagtcaaagttagttc	4	6	5	0	rs74729826	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr2:175292599T>G	ENST00000272732.6	+	8	1333	c.1251T>G	c.(1249-1251)aaT>aaG	p.N417K	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.N410K	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	417							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATCAGTCAAATTTATCAGTCA	0.323																																					p.N417K		.											.	SCRN3-91	0			c.T1251G						.						69	65	66					2																	175292599		2203	4295	6498	SO:0001583	missense	79634	exon8			GTCAAATTTATCA	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1251T>G	2.37:g.175292599T>G	ENSP00000272732:p.Asn417Lys	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	145	24	NM_024583	0	0	2	2	0	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422932	0.62733	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08458	3.09;3.1	5.63	4.48	0.54585	.	0.577730	0.18418	N	0.141839	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999994	B;B	0.28713	0.22;0.047	B;B	0.25140	0.058;0.024	T	0.43940	-0.9360	9	.	.	.	.	6.8696	0.24113	0.1929:0.0699:0.0:0.7372	.	410;417	B4DI11;Q0VDG4	.;SCRN3_HUMAN	K	410;417	ENSP00000387142:N410K;ENSP00000272732:N417K	.	N	+	3	2	SCRN3	175000845	0.498000	0.26075	0.915000	0.36163	0.813000	0.45954	0.405000	0.21015	0.974000	0.38366	0.533000	0.62120	AAT	T|0.842;G|0.157		0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		G	175292599	T	G	175292599	3	3	15	1	0	0	0	0	1	0	0	0	13985	1490	52	5	1277	5	SCRN3	2	175292599	Missense_Mutation	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	173811368	175292599	67906774	8	3206											
SNED1	25992	hgsc.bcm.edu	37	chr2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcgcctgccggagcTgcgcctgctcaatgaccaca	12	18	1	1	rs17440466	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P|SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		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)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5	6	6		3683	4.4	1	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	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.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	7	NM_001080437	0	0	10	12	2	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	242011084	T	C	242011084	3	2	15	1	0	0	0	0	1	0	0	0	14890	1580	55	4	3781	4	SNED1	2	242011084	Missense_Mutation	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	66718485	242011084	1188289	9	3207											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	15	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10		66550756	131471674	10	3208	24	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	15	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	6	66550762	131471668	11	3209	24	2									
OR5H6	79295	broad.mit.edu	37	chr3	97983207	97983207	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaatgcaacattgctgacaGagtttgttctcacaggattt	8	7	1	2	rs137937308	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr3:97983207G>C	ENST00000383696.2	+	1	120	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	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)	27						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						ATTGCTGACAGAGTTTGTTCT	0.403													G|||	7	0.00139776	0	0	5008	,	,		21408	0		0.005	False		,,,				2504	0.002				p.E27Q		.											.	OR5H6-137	0			c.G79C						.	G	GLN/GLU	3,4403		0,3,2200	159	162	161		79	1.3	0.2	3	dbSNP_134	161	38,8562		0,38,4262	yes	missense	OR5H6	NM_001005479.1	29	0,41,6462	CC,CG,GG		0.4419,0.0681,0.3152	possibly-damaging	27/326	97983207	41,12965	2203	4300	6503	SO:0001583	missense	79295	exon1			CTGACAGAGTTTG	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.79G>C	3.37:g.97983207G>C	ENSP00000373196:p.Glu27Gln	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	165	3	NM_001005479	0	0	0	0	0	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	-	9.757	1.169122	0.21621	6.81E-4	0.004419	ENSG00000230301	ENST00000383696	T	0.01126	5.3	2.19	1.28	0.21552	.	0.703971	0.12221	N	0.488363	T	0.01730	0.0055	M	0.69463	2.115	0.09310	N	1	B	0.26975	0.165	B	0.23275	0.045	T	0.38457	-0.9660	10	0.66056	D	0.02	.	6.6494	0.22953	0.1628:0.0:0.8372:0.0	.	27	Q8NGV6	OR5H6_HUMAN	Q	27	ENSP00000373196:E27Q	ENSP00000373196:E27Q	E	+	1	0	OR5H6	99465897	0.004000	0.15560	0.160000	0.22671	0.257000	0.26127	1.329000	0.33770	0.251000	0.21505	0.194000	0.17425	GAG	G|0.997;C|0.003		0.403	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983207	G	C	97983207	3	2	15	1	0	0	0	0	1	0	0	0	11202	943	33	3	81	3	OR5H6	3	97983207	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	31432445	97983207	100039223	12	3210											
LRRC58	116064	hgsc.bcm.edu	37	chr3	120068022	120068022	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccagcgtctcggtggaCacgctgaggcgggaccagtt	15	12	1	1	rs6770482	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr3:120068022C>G	ENST00000295628.3	-	1	164	c.69G>C	c.(67-69)gtG>gtC	p.V23V	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	23										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTCGGTGGACACGCTGAGGC	0.741													C|||	1050	0.209665	0.3933	0.2968	5008	,	,		12008	0.0962		0.0755	False		,,,				2504	0.1544				p.V23V		.											.	.	0			c.G69C						.	C		576,2498		28,520,989	2	2	2		69	4.5	1	3	dbSNP_116	2	392,6042		8,376,2833	no	coding-synonymous	LRRC58	NM_001099678.1		36,896,3822	GG,GC,CC		6.0926,18.7378,10.1809		23/372	120068022	968,8540	1537	3217	4754	SO:0001819	synonymous_variant	116064	exon1			GGTGGACACGCTG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.69G>C	3.37:g.120068022C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			C|0.826;G|0.174		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		G	120068022	C	G	120068022	2	3	15	1	0	0	0	0	0	0	0	1	9049	465	17	3		3	LRRC58	3	120068022	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	22084815	120068022	77954408	13	3211											
TNIP2	79155	hgsc.bcm.edu	37	chr4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctgctcccggaagcGcgcaacctgctccagcagcg	12	17	0	0	rs74548850	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5	7	6		217	2.8	1	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	9	NM_024309	0	0	0	0	0		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		C	2757800	G	C	2757800	3	2	15	1	0	0	0	0	1	0	0	0	16362	1087	38	2	1096	2	TNIP2	4	2757800	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10		2757800	188396476	14	3212											
DOK7	285489	hgsc.bcm.edu	37	chr4	3495095	3495095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatggaggccccccaggGcagcgaggccacactgcctg	16	14	0	1	rs9684786	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:3495095G>A	ENST00000340083.5	+	7	1447	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.G461D	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	461			G -> D (in dbSNP:rs9684786). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCCCCAGGGCAGCGAGGCC	0.736													.|||	979	0.195487	0.1301	0.2536	5008	,	,		12640	0.126		0.1859	False		,,,				2504	0.3241				p.G461D		.											.	DOK7-91	0			c.G1382A						.	G	,ASP/GLY	491,3733		21,449,1642	5	7	6		,1382	2.6	0	4	dbSNP_119	6	1533,6777		146,1241,2768	no	utr-3,missense	DOK7	NM_001164673.1,NM_173660.4	,94	167,1690,4410	AA,AG,GG		18.4477,11.6241,16.1481	,possibly-damaging	,461/505	3495095	2024,10510	2112	4155	6267	SO:0001583	missense	285489	exon7			CCCAGGGCAGCGA	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1382G>A	4.37:g.3495095G>A	ENSP00000344432:p.Gly461Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	11	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	361	0.1652930402930403	71	0.1443089430894309	89	0.24585635359116023	60	0.1048951048951049	141	0.18601583113456466	G	11.67	1.708532	0.30322	0.116241	0.184477	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.65364	-0.15;-0.05	3.45	2.59	0.31030	.	0.256266	0.35096	N	0.003451	T	0.00039	0.0001	L	0.60455	1.87	0.80722	P	0.0	B;P;B	0.40731	0.192;0.728;0.005	B;P;B	0.44359	0.066;0.447;0.001	T	0.03706	-1.1011	9	0.51188	T	0.08	-7.7911	11.2519	0.49031	0.0:0.0:0.8164:0.1835	rs9684786;rs17846359;rs17859395	461;323;461	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	D	461	ENSP00000374304:G461D;ENSP00000344432:G461D	ENSP00000344432:G461D	G	+	2	0	DOK7	3464893	1.000000	0.71417	0.010000	0.14722	0.077000	0.17291	2.742000	0.47434	0.667000	0.31107	0.555000	0.69702	GGC	G|0.834;A|0.166		0.736	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		A	3495095	G	A	3495095	3	1	15	1	0	0	0	0	1	0	0	0	4716	1203	42	3	1408	3	DOK7	4	3495095	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	737295	3495095	187659181	15	3213											
WDR1	9948	broad.mit.edu	37	chr4	10084680	10084680	+	Frame_Shift_Del	DEL	C	C	-													catgaggctggtgtaccgcaCggtgtcgtccatgctgcagc							TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:10084680delC	ENST00000499869.2	-	10	1355	c.1162delG	c.(1162-1164)gtgfs	p.V388fs	WDR1_ENST00000502702.1_Frame_Shift_Del_p.V248fs|WDR1_ENST00000382451.2_Frame_Shift_Del_p.V248fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.V388fs|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	388					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTGTACCGCACGGTGTCGTCC	0.637																																					p.V388fs		.											.	WDR1-48	0			c.1162delG						.						51	60	57					4																	10084680		2130	4227	6357	SO:0001589	frameshift_variant	9948	exon10			ACCGCACGGTGTC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1162delG	4.37:g.10084680delC	ENSP00000427687:p.Val388fs	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	285	7	NM_017491	0	0	0	0	0	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	CCDS54740.1																																																																																			.		0.637	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			-	10084680	C	-	10084680	7	5	15	1	0	1	0	1	0	0	0	0	17321	536	19	0	682	0	WDR1	4	10084680	Frame_Shift_Del	DEL	C	TCGA-OR-A5JI-01A-11D-A29I-10	6589585	10084680	181069596	16	3214											
BEND4	389206	broad.mit.edu;bcgsc.ca	37	chr4	42145732	42145732	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcttcccgagagcaggTaattttgtagagagtcagtg	13	6	1	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:42145732T>A	ENST00000502486.1	-	3	1346	c.767A>T	c.(766-768)tAc>tTc	p.Y256F	BEND4_ENST00000504360.1_Missense_Mutation_p.Y252F	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	256										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGAGAGCAGGTAATTTTGTAG	0.468																																					p.Y256F		.											.	BEND4-90	0			c.A767T						.						99	101	100					4																	42145732		1905	4119	6024	SO:0001583	missense	389206	exon3			AGCAGGTAATTTT	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.767A>T	4.37:g.42145732T>A	ENSP00000421169:p.Tyr256Phe	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	149	6	NM_001159547	0	0	0	0	0	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427973	0.83667	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.80764	0.994;0.985;0.994	T	0.70059	-0.4976	9	0.87932	D	0	-16.4146	15.6591	0.77169	0.0:0.0:0.0:1.0	.	178;256;256	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	F	127;256;252	.	ENSP00000412495:Y127F	Y	-	2	0	BEND4	41840489	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.698000	0.84413	2.111000	0.64477	0.533000	0.62120	TAC	.		0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		A	42145732	T	A	42145732	3	1	15	1	0	0	0	0	1	0	0	0	1401	1638	57	5	853	5	BEND4	4	42145732	Missense_Mutation	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	32061052	42145732	149008544	17	3215											
DSPP	1834	bcgsc.ca	37	chr4	88537126	88537126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcagcgacagcagcgaCagcagcgatagcagtgacag	14	10	0	1			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:88537126C>T	ENST00000282478.7	+	4	3345	c.3312C>T	c.(3310-3312)gaC>gaT	p.D1104D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1104D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1104	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)		acagcagcgacagcagcgata	0.542																																					p.D1104D		.											.	DSPP-90	0			c.C3312T						.						13	18	17					4																	88537126		1133	2209	3342	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGC	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.3312C>T	4.37:g.88537126C>T		Somatic	252	6		WXS	Illumina GAIIx	Phase_I	498	63	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537126	C	T	88537126	2	4	15	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537126	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	46391394	88537126	102617150	18	3216											
PKD2	5311	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	88996821	88996821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggaaggtgcaggtggaaAtgggagttctaatgtccacg	15	6	1	0			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr4:88996821A>G	ENST00000508588.1	+	10	1531	c.1136A>G	c.(1135-1137)aAt>aGt	p.N379S	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.N379S|PKD2_ENST00000237596.2_Missense_Mutation_p.N961S			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GCAGGTGGAAATGGGAGTTCT	0.483																																					p.N961S		.											.	PKD2-91	0			c.A2882G						.						193	152	166					4																	88996821		2203	4300	6503	SO:0001583	missense	5311	exon15			GTGGAAATGGGAG	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.1136A>G	4.37:g.88996821A>G	ENSP00000427131:p.Asn379Ser	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	137	31	NM_000297	0	0	4	5	1	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	A	11.18	1.561731	0.27915	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.91521	-0.24;-2.86;-2.86	5.3	2.83	0.33086	.	0.317447	0.34046	N	0.004309	D	0.83041	0.5168	L	0.38531	1.155	0.37954	D	0.932762	B	0.17852	0.024	B	0.12156	0.007	T	0.73720	-0.3894	10	0.30854	T	0.27	-11.8095	6.8795	0.24164	0.6386:0.2879:0.0734:0.0	.	961	Q13563	PKD2_HUMAN	S	961;379;379	ENSP00000237596:N961S;ENSP00000427131:N379S;ENSP00000425289:N379S	ENSP00000237596:N961S	N	+	2	0	PKD2	89215845	0.981000	0.34729	0.160000	0.22671	0.724000	0.41520	2.307000	0.43682	0.316000	0.23135	0.477000	0.44152	AAT	.		0.483	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		G	88996821	A	G	88996821	3	3	15	1	0	0	0	0	1	0	0	0	12005	101	4	4	2940	4	PKD2	4	88996821	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	459695	88996821	102157455	19	3217											
ZNF131	7690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaatgttatcactgagtCattgccatctgcagaatcag	7	9	5	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr5:43161449C>T	ENST00000399534.1	+	5	514	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131	157					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408																																					p.S157L		.											.	ZNF131-90	0			c.C470T						.						114	103	106					5																	43161449		1879	4122	6001	SO:0001583	missense	7690	exon5			CTGAGTCATTGCC	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.470C>T	5.37:g.43161449C>T	ENSP00000382450:p.Ser157Leu	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	228	51	NM_003432	0	0	2	2	0	B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37		.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	ZNF131	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA	.		0.408	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		T	43161449	C	T	43161449	3	4	15	1	0	0	0	0	1	0	0	0	17769	838	29	3	484	3	ZNF131	5	43161449	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		43161449	137753811	20	3218											
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595625	140595625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaggctggtggtgctgGtcaaggacaatggcgagcct	16	9	1	0	rs2910005	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr5:140595625G>A	ENST00000341948.4	+	1	2117	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711													G|||	602	0.120208	0.1036	0.0937	5008	,	,		15211	0.0933		0.1421	False		,,,				2504	0.1667				p.V644I		.											.	PCDHB13-93	0			c.G1930A						.						13	15	14					5																	140595625		1563	3249	4812	SO:0001583	missense	56123	exon1			GTGCTGGTCAAGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1930G>A	5.37:g.140595625G>A	ENSP00000345491:p.Val644Ile	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	57	25	NM_018933	0	0	131	134	3	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	263	0.12042124542124542	52	0.10569105691056911	43	0.11878453038674033	53	0.09265734265734266	115	0.1517150395778364	-	23.4	4.405720	0.83230	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.23552	1.9	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00300	0.0009	M	0.63843	1.955	0.27033	P	0.9641952	D	0.71674	0.998	D	0.63283	0.913	T	0.09314	-1.0680	8	0.72032	D	0.01	.	14.5914	0.68368	0.0:0.0:1.0:0.0	rs2910005	644	Q9Y5F0	PCDBD_HUMAN	I	644;644;590	ENSP00000345491:V644I	ENSP00000345491:V644I	V	+	1	0	PCDHB13	140575809	1.000000	0.71417	0.701000	0.30321	0.791000	0.44710	9.501000	0.97979	1.576000	0.49790	0.298000	0.19748	GTC	G|0.500;A|0.500		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140595625	G	A	140595625	3	1	15	1	0	0	0	0	1	0	0	0	11577	1261	44	3	1932	3	PCDHB13	5	140595625	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	97434176	140595625	40319635	21	3219											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	15	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	35196980	175792605	5122655	22	3220											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001135111	0	0	1	1	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	15	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10		39282036	131833031	23	3221											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_000287	0	0	0	0	0	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	15	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	3664454	42946490	128168577	24	3222											
C6orf138	442213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	47976553	47976553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtggtcaggatcagcaCgaggctcaccaggaccttgc	14	12	3	0	rs191919500		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr6:47976553C>T	ENST00000339488.4	-	2	757	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	PTCHD4_ENST00000543600.1_Missense_Mutation_p.V225M	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	242	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGGATCAGCACGAGGCTCACC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19074	0.001		0	False		,,,				2504	0				p.V242M		.											.	.	0			c.G724A						.						70	72	72					6																	47976553		2039	4206	6245	SO:0001583	missense	442213	exon2			TCAGCACGAGGCT		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.724G>A	6.37:g.47976553C>T	ENSP00000341914:p.Val242Met	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	182	43	NM_001013732	0	0	0	0	0	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	10.91|10.91	1.484826|1.484826	0.26598|0.26598	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;D	.|0.93307	.|-3.2;-3.2	6.16|6.16	3.37|3.37	0.38596|0.38596	.|Sterol-sensing domain (1);	.|0.277575	.|0.36591	.|N	.|0.002515	T|T	0.75838|0.75838	0.3904|0.3904	N|N	0.14661|0.14661	0.345|0.345	0.40204|0.40204	D|D	0.977557|0.977557	.|B;B	.|0.17268	.|0.02;0.021	.|B;B	.|0.18871	.|0.023;0.018	T|T	0.72279|0.72279	-0.4340|-0.4340	5|10	.|0.49607	.|T	.|0.09	.|.	5.3307|5.3307	0.15930|0.15930	0.0:0.5563:0.1477:0.296|0.0:0.5563:0.1477:0.296	.|.	.|242;225	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	H|M	241|242;225	.|ENSP00000341914:V242M;ENSP00000439864:V225M	.|ENSP00000341914:V242M	R|V	-|-	2|1	0|0	C6orf138|C6orf138	48084512|48084512	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.871000|0.871000	0.50021|0.50021	1.336000|1.336000	0.33850|0.33850	0.905000|0.905000	0.36596|0.36596	0.650000|0.650000	0.86243|0.86243	CGT|GTG	C|0.999;T|0.000		0.562	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	47976553	C	T	47976553	3	4	15	1	0	0	0	0	1	0	0	0	2339	536	19	1	1824	1	C6orf138	6	47976553	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	5030063	47976553	123138514	25	3223											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_002047	0	0	2	3	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	15	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		30634661	128504002	26	3224											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_194284	0	0	0	3	3	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	15	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10		8560536	137803486	27	3225											
MYST3	7994	hgsc.bcm.edu	37	chr8	41798484	41798484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcaccctcactgtagCgacggggcagcctctcactt	9	17	3	0	rs376411038		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr8:41798484C>T	ENST00000396930.3	-	16	3458	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	KAT6A_ENST00000406337.1_Missense_Mutation_p.R972H|KAT6A_ENST00000265713.2_Missense_Mutation_p.R972H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	972					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.R972H(1)									CTCACTGTAGCGACGGGGCAG	0.597																																					p.R972H		.											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2915A						.						103	102	102					8																	41798484		2203	4300	6503	SO:0001583	missense	7994	exon16			CTGTAGCGACGGG	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.2915G>A	8.37:g.41798484C>T	ENSP00000380136:p.Arg972His	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	73	3	NM_001099412	0	0	1	1	0	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516344	0.12944	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60299	0.2;0.2;0.2	5.56	4.67	0.58626	.	0.387081	0.24796	N	0.035522	T	0.40222	0.1108	N	0.12182	0.205	0.28542	N	0.912036	P	0.49358	0.923	B	0.39660	0.306	T	0.32107	-0.9919	10	0.41790	T	0.15	-2.6719	15.7778	0.78236	0.1374:0.8626:0.0:0.0	.	972	Q92794	KAT6A_HUMAN	H	972;972;972;552	ENSP00000265713:R972H;ENSP00000385888:R972H;ENSP00000380136:R972H	ENSP00000265713:R972H	R	-	2	0	KAT6A	41917641	1.000000	0.71417	0.394000	0.26270	0.001000	0.01503	3.026000	0.49689	1.318000	0.45170	-0.188000	0.12872	CGC	.		0.597	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41798484	C	T	41798484	3	4	15	1	0	0	0	0	1	0	0	0	10142	768	27	1	3111	1	MYST3	8	41798484	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	33237948	41798484	104565538	28	3226											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000398774.2_Silent_p.A1937A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_201380	0	0	1	5	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	15	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	103199706	144998190	1365832	29	3227											
SHARPIN	81858	hgsc.bcm.edu	37	chr8	145158503	145158503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccggaagcgcccaggccGctcagggtccgcgctcagct	14	17	2	0	rs11136254	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr8:145158503G>T	ENST00000398712.2	-	1	590	c.154C>A	c.(154-156)Cgg>Agg	p.R52R	MAF1_ENST00000534585.1_5'Flank|SHARPIN_ENST00000533948.1_Intron|MAF1_ENST00000532522.1_5'Flank|MAF1_ENST00000322428.5_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	52	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGCCGCTCAGGGTCC	0.771													G|||	4431	0.884784	0.6884	0.9366	5008	,	,		10154	0.999		0.9115	False		,,,				2504	0.9683				p.R52R		.											.	SHARPIN-523	0			c.C154A						.	G		1990,374		815,360,7	2	2	2		154	2.7	0.6	8	dbSNP_120	2	5503,323		2593,317,3	no	coding-synonymous	SHARPIN	NM_030974.3		3408,677,10	TT,TG,GG		5.5441,15.8206,8.5104		52/388	145158503	7493,697	1182	2913	4095	SO:0001819	synonymous_variant	81858	exon1			CAGGCCGCTCAGG	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.154C>A	8.37:g.145158503G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_030974	0	0	0	10	10	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	CCDS43777.1																																																																																			G|0.108;T|0.892		0.771	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		T	145158503	G	T	145158503	2	4	15	1	0	0	0	0	0	0	0	1	14312	1086	38	2		2	SHARPIN	8	145158503	Silent	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	160313	145158503	1205519	30	3228											
PTPRD	5789	broad.mit.edu	37	chr9	8485823	8485823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggcccgggccctttgctCgtatgagcacgtacttttac	10	12	0	1			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr9:8485823C>T	ENST00000381196.4	-	25	3537	c.2994G>A	c.(2992-2994)acG>acA	p.T998T	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Silent_p.T998T|PTPRD_ENST00000356435.5_Silent_p.T998T|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.T985T|PTPRD_ENST00000358503.5_Silent_p.T976T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCTTTGCTCGTATGAGCAC	0.493										TSP Lung(15;0.13)																											p.T998T		.											.	PTPRD-912	0			c.G2994A						.						102	89	94					9																	8485823		2203	4300	6503	SO:0001819	synonymous_variant	5789	exon28			TTTGCTCGTATGA	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.2994G>A	9.37:g.8485823C>T		Somatic	145	1		WXS	Illumina GAIIx	Phase_I	155	6	NM_002839	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																			.		0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8485823	C	T	8485823	2	4	15	1	0	0	0	0	0	0	0	1	12844	871	31	1		1	PTPRD	9	8485823	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		8485823	132727608	31	3229											
CRB2	286204	hgsc.bcm.edu	37	chr9	126135831	126135831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcgcatcctgctggcTgagaacttcaccggctgctt	12	13	1	1	rs7848449	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr9:126135831T>C	ENST00000373631.3	+	10	3022	c.3021T>C	c.(3019-3021)gcT>gcC	p.A1007A	CRB2_ENST00000373629.2_Silent_p.A675A|CRB2_ENST00000359999.3_Silent_p.A1007A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1007	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCCTGCTGGCTGAGAACTTCA	0.766													C|||	691	0.137979	0.2436	0.1383	5008	,	,		8285	0.0556		0.0944	False		,,,				2504	0.1247				p.A1007A		.											.	CRB2-91	0			c.T3021C						.	C		511,2581		46,419,1081	6	6	6		3021	-6.8	0.9	9	dbSNP_116	6	457,5659		17,423,2618	no	coding-synonymous	CRB2	NM_173689.5		63,842,3699	CC,CT,TT		7.4722,16.5265,10.5126		1007/1286	126135831	968,8240	1546	3058	4604	SO:0001819	synonymous_variant	286204	exon10			GCTGGCTGAGAAC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3021T>C	9.37:g.126135831T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			T|0.886;C|0.114		0.766	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		C	126135831	T	C	126135831	2	2	15	1	0	0	0	0	0	0	0	1	3856	1567	55	4		4	CRB2	9	126135831	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	117650008	126135831	15077600	32	3230											
PPP6C	5537	broad.mit.edu	37	chr9	127951863	127951863	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgggggtcctggagaaagGaagggccggccggcgggcgc	23	10	0	1	rs466994	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr9:127951863G>A	ENST00000373547.4	-	1	175				PPP6C_ENST00000451402.1_Silent_p.F45F|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000415905.1_Intron	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit						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						CTGGAGAAAGGAAgggccggc	0.697													G|||	2279	0.455072	0.4682	0.3473	5008	,	,		12046	0.5417		0.4513	False		,,,				2504	0.4284				p.F45F		.											.	PPP6C-227	0			c.C135T						.						8	13	11					9																	127951863		685	1565	2250	SO:0001627	intron_variant	5537	exon1			AGAAAGGAAGGGC	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.75+59C>T	9.37:g.127951863G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	35	3	NM_001123355	0	0	0	0	0	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	CCDS6861.1																																																																																			G|0.563;A|0.437		0.697	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		A	127951863	G	A	127951863	1	1	15	0	1	0	0	0	0	0	0	0	12449	1165	41	3		3	PPP6C	9	127951863	Intron	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	1816032	127951863	13261568	33	3231											
OPTN	10133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	13152419	13152419	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggccttgagtcatgagaaTgagaaattgaaggaagagct	13	4	1	5			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr10:13152419T>A	ENST00000378748.3	+	5	674	c.312T>A	c.(310-312)aaT>aaA	p.N104K	OPTN_ENST00000378752.3_Missense_Mutation_p.N104K|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378764.2_Missense_Mutation_p.N104K|OPTN_ENST00000378747.3_Missense_Mutation_p.N104K|OPTN_ENST00000378757.2_Missense_Mutation_p.N104K|OPTN_ENST00000263036.5_Missense_Mutation_p.N104K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	104	Interaction with Rab8.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCATGAGAATGAGAAATTGA	0.418																																					p.N104K		.											.	OPTN-70	0			c.T312A						.						100	115	110					10																	13152419		2203	4300	6503	SO:0001583	missense	10133	exon4			TGAGAATGAGAAA	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.312T>A	10.37:g.13152419T>A	ENSP00000368022:p.Asn104Lys	Somatic	287	0		WXS	Illumina GAIIx	Phase_I	256	25	NM_001008212	0	0	24	26	2	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.774847	0.70107	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.98	3.55	0.40652	NF-kappa-B essential modulator NEMO, N-terminal (1);	0.039058	0.85682	D	0.000000	T	0.79941	0.4533	L	0.41961	1.31	0.53005	D	0.999968	P;P	0.44877	0.814;0.845	P;P	0.48654	0.449;0.585	T	0.74674	-0.3586	10	0.07644	T	0.81	-24.2383	7.6892	0.28559	0.0:0.0739:0.1406:0.7855	.	104;104	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	K	104;104;104;104;104;47;104	ENSP00000263036:N104K;ENSP00000368040:N104K;ENSP00000368032:N104K;ENSP00000368027:N104K;ENSP00000368022:N104K;ENSP00000414747:N47K;ENSP00000368021:N104K	ENSP00000263036:N104K	N	+	3	2	OPTN	13192425	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	0.574000	0.23714	1.098000	0.41479	0.533000	0.62120	AAT	.		0.418	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		A	13152419	T	A	13152419	3	1	15	1	0	0	0	0	1	0	0	0	10928	1461	51	5	318	5	OPTN	10	13152419	Missense_Mutation	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10		13152419	122382328	34	3232											
FAM171A1	221061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	15256461	15256461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggctggtgacggacagcgGgccagggaattctgacgctc	17	10	1	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr10:15256461G>C	ENST00000378116.4	-	8	1132	c.1126C>G	c.(1126-1128)Ccg>Gcg	p.P376A	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	376						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACGGACAGCGGGCCAGGGAAT	0.602																																					p.P376A		.											.	FAM171A1-138	0			c.C1126G						.						47	52	51					10																	15256461		2203	4300	6503	SO:0001583	missense	221061	exon8			ACAGCGGGCCAGG	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1126C>G	10.37:g.15256461G>C	ENSP00000367356:p.Pro376Ala	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	87	12	NM_001010924	0	0	0	1	1	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396215	0.11638	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30448	1.53	4.96	2.96	0.34315	.	0.523549	0.17969	N	0.155929	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.22152	0.038	T	0.17899	-1.0354	10	0.49607	T	0.09	-14.5167	8.2403	0.31656	0.0:0.158:0.6572:0.1848	.	376	Q5VUB5	F1711_HUMAN	A	376;377	ENSP00000367356:P376A	ENSP00000367356:P376A	P	-	1	0	FAM171A1	15296467	.	.	0.069000	0.20011	0.481000	0.33189	.	.	0.530000	0.28619	0.563000	0.77884	CCG	.		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		C	15256461	G	C	15256461	3	2	15	1	0	0	0	0	1	0	0	0	5509	1232	43	3	1550	3	FAM171A1	10	15256461	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	2104042	15256461	120278286	35	3233											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC													tgagccgatcccacctggagTtgcttccgggggcctcaggc					rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D|KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		AC	135012430	TT	AC	135012429	3	1	15	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	DNP	TT	TCGA-OR-A5JI-01A-11D-A29I-10	119755968	135012429	522318	36	3234											
MUC2	4583	bcgsc.ca	37	chr11	1092947	1092947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1	rs111219026		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:1092947C>A	ENST00000441003.2	+	30	4793	c.4766C>A	c.(4765-4767)aCc>aAc	p.T1589N	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1590N|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)		p.T1589N(2)|p.T1590N(2)|p.T1590I(2)|p.T1589I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.627																																					p.T1589N		.											.	MUC2-90	8	Substitution - Missense(8)	endometrium(8)	c.C4766A						.						58	93	81					11																	1092947		1850	3386	5236	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.4766C>A	11.37:g.1092947C>A	ENSP00000415183:p.Thr1589Asn	Somatic	209	4		WXS	Illumina GAIIx	Phase_I	187	10	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.043	0.376346	0.11466	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14516	2.5;2.84	1.75	1.75	0.24633	.	1.843980	0.03632	U	0.238018	T	0.07863	0.0197	.	.	.	0.09310	N	1	P	0.45986	0.87	B	0.31101	0.124	T	0.33189	-0.9878	9	0.27082	T	0.32	.	8.7142	0.34401	0.0:1.0:0.0:0.0	.	1589	E7EUV1	.	N	1589;1590	ENSP00000415183:T1589N;ENSP00000351956:T1590N	ENSP00000351956:T1590N	T	+	2	0	MUC2	1082947	0.034000	0.19679	0.006000	0.13384	0.170000	0.22686	1.835000	0.39181	1.016000	0.39470	0.121000	0.15741	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092947	C	A	1092947	3	1	15	1	0	0	0	0	1	0	0	0	10013	507	18	3	4884	3	MUC2	11	1092947	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		1092947	133913569	37	3235											
MUC2	4583	bcgsc.ca	37	chr11	1093004	1093004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagaccccaaccacgacacCcatcaccaccaccactacgg	4	21	1	1			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:1093004C>A	ENST00000441003.2	+	30	4850	c.4823C>A	c.(4822-4824)cCc>cAc	p.P1608H	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|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)	accacgacacccatcaccacc	0.632																																					p.P1608H		.											.	MUC2-90	0			c.C4823A						.						61	106	90					11																	1093004		1817	3370	5187	SO:0001583	missense	4583	exon30			CGACACCCATCAC	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.4823C>A	11.37:g.1093004C>A	ENSP00000415183:p.Pro1608His	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	148	6	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.416	-0.334306	0.05278	.	.	ENSG00000198788	ENST00000441003	T	0.15017	2.46	1.75	0.741	0.18336	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	D	0.62365	0.991	B	0.40329	0.326	T	0.20940	-1.0260	8	0.40728	T	0.16	.	5.9581	0.19286	0.0:0.8214:0.0:0.1786	.	1608	E7EUV1	.	H	1608	ENSP00000415183:P1608H	ENSP00000415183:P1608H	P	+	2	0	MUC2	1083004	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.436000	0.21526	0.097000	0.17492	0.121000	0.15741	CCC	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093004	C	A	1093004	3	1	15	1	0	0	0	0	1	0	0	0	10013	623	22	3	4941	3	MUC2	11	1093004	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	57	1093004	133913512	38	3236											
MUC15	143662	bcgsc.ca	37	chr11	26587133	26587133	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagaatgctctgctgaTgagttactggagaaatctgt	10	8	2	4	rs293980	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:26587133T>C	ENST00000455601.2	-	2	391	c.273A>G	c.(271-273)tcA>tcG	p.S91S	MUC15_ENST00000529533.1_Silent_p.S118S|MUC15_ENST00000436318.2_Silent_p.S118S|MUC15_ENST00000527569.1_Silent_p.S118S|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Silent_p.S118S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	91					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GCTCTGCTGATGAGTTACTGG	0.433													C|||	3344	0.667732	0.7073	0.7954	5008	,	,		19048	0.4772		0.7256	False		,,,				2504	0.6605				p.S118S		.											.	MUC15-92	0			c.A354G						.	C	,,,	3210,1196	418.3+/-338.2	1167,876,160	159	143	149		354,354,,273	-1.7	0	11	dbSNP_79	149	6367,2233	379.5+/-339.3	2333,1701,266	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	ANO3,MUC15	NM_001135091.1,NM_001135092.1,NM_031418.2,NM_145650.3	,,,	3500,2577,426	CC,CT,TT		25.9651,27.1448,26.3648	,,,	118/362,118/312,,91/335	26587133	9577,3429	2203	4300	6503	SO:0001819	synonymous_variant	143662	exon3			TGCTGATGAGTTA	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.273A>G	11.37:g.26587133T>C		Somatic	277	1		WXS	Illumina GAIIx	Phase_I	253	9	NM_001135092	0	0	0	0	0	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1																																																																																			T|0.311;C|0.689		0.433	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		C	26587133	T	C	26587133	2	2	15	1	0	0	0	0	0	0	0	1	10010	1451	51	4		4	MUC15	11	26587133	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	25494129	26587133	108419383	39	3237											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	15	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	39223076	65810209	69196307	40	3238											
MAP6	4135	bcgsc.ca	37	chr11	75298797	75298797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaccatgggaccttcAtccttgacaggtgctgggac	13	11	1	2	rs1231128	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:75298797A>G	ENST00000304771.3	-	4	2499	c.1749T>C	c.(1747-1749)gaT>gaC	p.D583D	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.D254D	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	583	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGGGACCTTCATCCTTGACAG	0.522													A|||	1884	0.376198	0.3041	0.5648	5008	,	,		21623	0.2579		0.3161	False		,,,				2504	0.5235				p.D583D	Esophageal Squamous(181;1115 2007 8647 17065 22697)	.											.	MAP6-226	0			c.T1749C						.	A		1262,3138	432.2+/-343.2	192,878,1130	145	135	139		1749	-5.5	0	11	dbSNP_87	139	2625,5961	425.0+/-354.8	391,1843,2059	no	coding-synonymous	MAP6	NM_033063.1		583,2721,3189	GG,GA,AA		30.573,28.6818,29.9322		583/814	75298797	3887,9099	2200	4293	6493	SO:0001819	synonymous_variant	4135	exon4			ACCTTCATCCTTG	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1749T>C	11.37:g.75298797A>G		Somatic	336	3		WXS	Illumina GAIIx	Phase_I	261	8	NM_033063	0	0	25	25	0	A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	CCDS31641.1																																																																																			A|0.685;G|0.315		0.522	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		G	75298797	A	G	75298797	2	3	15	1	0	0	0	0	0	0	0	1	9302	214	8	4		4	MAP6	11	75298797	Silent	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	9488588	75298797	59707719	41	3239											
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	108382838	108382838	+	Frame_Shift_Del	DEL	G	G	-													cttccttctcttccagttgaGgcatgtggctcccctgaggg							TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr11:108382838delG	ENST00000265843.4	-	6	3506	c.3396delC	c.(3394-3396)gccfs	p.A1132fs	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.A1125fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.A944fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.A1056fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1132					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGTTGAGGCATGTGGCT	0.473																																					p.A1132fs		.											.	EXPH5-95	0			c.3396delC						.						113	117	116					11																	108382838		2201	4298	6499	SO:0001589	frameshift_variant	23086	exon6			AGTTGAGGCATGT		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3396delC	11.37:g.108382838delG	ENSP00000265843:p.Ala1132fs	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	75	22	NM_015065	0	0	0	0	0	Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.473	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		-	108382838	G	-	108382838	7	5	15	1	0	1	0	1	0	0	0	0	5338	987	35	0	2577	0	EXPH5	11	108382838	Frame_Shift_Del	DEL	G	TCGA-OR-A5JI-01A-11D-A29I-10	33084041	108382838	26623678	42	3240											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000536002.1_Silent_p.P565P|RIMBP2_ENST00000535703.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	29	5	NM_015347	0	0	1	1	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	15	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10		130921471	2930424	43	3241											
MYCBP2	23077	ucsc.edu;bcgsc.ca	37	chr13	77837809	77837809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatatgcaagtccttttccAgatcgaatagtgagatacca	7	8	0	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr13:77837809A>G	ENST00000544440.2	-	10	1450	c.1433T>C	c.(1432-1434)cTg>cCg	p.L478P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L478P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L516P|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)		GTCCTTTTCCAGATCGAATAG	0.318																																					p.L516P		.											.	MYCBP2-236	0			c.T1547C						.						84	80	81					13																	77837809		2203	4299	6502	SO:0001583	missense	23077	exon10			TTTTCCAGATCGA	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.1433T>C	13.37:g.77837809A>G	ENSP00000444596:p.Leu478Pro	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	32	4	NM_015057	0	0	0	0	0		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	A	16.87	3.242809	0.58995	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28666	1.6;1.6;1.6	5.7	5.7	0.88788	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	D	0.000011	T	0.41696	0.1170	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.16512	-1.0400	10	0.36615	T	0.2	.	15.9644	0.79956	1.0:0.0:0.0:0.0	.	478	O75592	MYCB2_HUMAN	P	478;516;478	ENSP00000349892:L478P;ENSP00000384288:L516P;ENSP00000444596:L478P	ENSP00000349892:L478P	L	-	2	0	MYCBP2	76735810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.310000	0.96267	2.172000	0.68678	0.460000	0.39030	CTG	.		0.318	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77837809	A	G	77837809	3	3	15	1	0	0	0	0	1	0	0	0	10056	188	7	4	12785	4	MYCBP2	13	77837809	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10		77837809	37332069	44	3242											
ITGBL1	9358	bcgsc.ca	37	chr13	102227872	102227872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgatagagaatgcatagaCgatgaaacagaagaaatatg	11	4	0	5	rs3916912	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr13:102227872C>T	ENST00000376180.3	+	4	780	c.561C>T	c.(559-561)gaC>gaT	p.D187D	ITGBL1_ENST00000376162.3_Silent_p.D94D|ITGBL1_ENST00000545560.2_Silent_p.D46D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	187	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATAGACGATGAAACAG	0.348													C|||	665	0.132788	0.2587	0.1081	5008	,	,		17994	0.001		0.1809	False		,,,				2504	0.0665				p.D187D		.											.	ITGBL1-92	0			c.C561T						.	C		953,3453	363.1+/-316.4	102,749,1352	231	215	221		561	-0.7	1	13	dbSNP_108	221	1533,7067	289.7+/-299.4	149,1235,2916	no	coding-synonymous	ITGBL1	NM_004791.1		251,1984,4268	TT,TC,CC		17.8256,21.6296,19.1143		187/495	102227872	2486,10520	2203	4300	6503	SO:0001819	synonymous_variant	9358	exon4			CATAGACGATGAA	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.561C>T	13.37:g.102227872C>T		Somatic	215	0		WXS	Illumina GAIIx	Phase_I	108	5	NM_004791	0	0	1	1	0	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	CCDS9499.1																																																																																			C|0.831;T|0.169		0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		T	102227872	C	T	102227872	2	4	15	1	0	0	0	0	0	0	0	1	7929	535	19	1		1	ITGBL1	13	102227872	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	24390063	102227872	12942006	45	3243											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	15	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10		63414083	39117309	46	3244											
AKAP13	11214	broad.mit.edu	37	chr15	86124623	86124623	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagaagagagaatatAtcacacaacacccaagacat	7	11	1	4			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr15:86124623A>C	ENST00000394518.2	+	7	3419	c.3324A>C	c.(3322-3324)atA>atC	p.I1108I	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.I1108I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1108					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						GAGAGAATATATCACACAACA	0.478																																					p.I1108I	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.A3324C						.						94	88	90					15																	86124623		2202	4299	6501	SO:0001819	synonymous_variant	11214	exon7			GAATATATCACAC	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.3324A>C	15.37:g.86124623A>C		Somatic	193	0		WXS	Illumina GAIIx	Phase_I	174	5	NM_007200	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																			.		0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		C	86124623	A	C	86124623	2	2	15	1	0	0	0	0	0	0	0	1	449	439	16	5		5	AKAP13	15	86124623	Silent	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	22710540	86124623	16406769	47	3245											
CRTC3	64784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	91150615	91150615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccctccttaggaccaAttctgattctgctcttcaca	4	16	4	1			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr15:91150615A>G	ENST00000268184.6	+	6	486	c.482A>G	c.(481-483)aAt>aGt	p.N161S	CRTC3_ENST00000420329.2_Missense_Mutation_p.N161S|CRTC3_ENST00000558619.1_3'UTR|CTD-3065B20.3_ENST00000559839.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	161					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTAGGACCAATTCTGATTCT	0.512			T	MAML2	salivary gland mucoepidermoid																																p.N161S		.		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	CRTC3-393	0			c.A482G						.						110	93	98					15																	91150615		2198	4298	6496	SO:0001583	missense	64784	exon6			GGACCAATTCTGA		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.482A>G	15.37:g.91150615A>G	ENSP00000268184:p.Asn161Ser	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	55	10	NM_022769	0	0	0	0	0	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836001	0.50951	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.54675	0.56;0.56	5.95	5.95	0.96441	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.48642	1.525	0.52501	D	0.99995	D;D	0.55605	0.972;0.966	P;P	0.61874	0.895;0.832	T	0.57562	-0.7790	10	0.27082	T	0.32	-18.4878	12.8155	0.57663	1.0:0.0:0.0:0.0	.	161;161	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	S	125;161;161	ENSP00000268184:N161S;ENSP00000416573:N161S	ENSP00000268184:N161S	N	+	2	0	CRTC3	88951619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.279000	0.76181	0.533000	0.62120	AAT	.		0.512	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		G	91150615	A	G	91150615	3	3	15	1	0	0	0	0	1	0	0	0	3908	101	4	4	504	4	CRTC3	15	91150615	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	5025992	91150615	11380777	48	3246											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	15	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		29908433	60446320	49	3247											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	15	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	27654371	57562804	32791949	50	3248											
PITPNA	5306	hgsc.bcm.edu	37	chr17	1465837	1465837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgccggacactcactaCtccttgagcagcaccatgtc	9	17	1	1	rs142675143	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:1465837C>T	ENST00000313486.7	-	1	273	c.18G>A	c.(16-18)gaG>gaA	p.E6E	PITPNA_ENST00000539476.1_Silent_p.E6E	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	6					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACACTCACTACTCCTTGAGCA	0.801													C|||	50	0.00998403	8e-04	0.0159	5008	,	,		5298	0		0.0358	False		,,,				2504	0.002				p.E6E		.											.	PITPNA-227	0			c.G18A						.	C		17,3393		0,17,1688	5	5	5		18	2.6	1	17	dbSNP_134	5	222,7468		1,220,3624	no	coding-synonymous	PITPNA	NM_006224.3		1,237,5312	TT,TC,CC		2.8869,0.4985,2.1532		6/271	1465837	239,10861	1705	3845	5550	SO:0001819	synonymous_variant	5306	exon1			TCACTACTCCTTG	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.18G>A	17.37:g.1465837C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	4	NM_006224	0	0	0	0	0		Silent	SNP	ENST00000313486.7	37	CCDS45563.1																																																																																			C|0.982;T|0.018		0.801	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			T	1465837	C	T	1465837	2	4	15	1	0	0	0	0	0	0	0	1	11986	564	20	3		3	PITPNA	17	1465837	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		1465837	79729373	51	3249											
HIC1	3090	hgsc.bcm.edu	37	chr17	1960974	1960974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagctgggccgggagcgCggctcccccagcgagcgctg	18	15	0	0	rs77393586	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:1960974C>T	ENST00000322941.3	+	2	1047	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Silent_p.R330R	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	349					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GCCGGGAGCGCGGCTCCCCCA	0.776													c|||	720	0.14377	0.2057	0.2824	5008	,	,		6818	0.0496		0.1272	False		,,,				2504	0.0757				p.R349R		.											.	HIC1-135	0			c.C1047T						.		,	305,2047		12,281,883	2	3	3		1047,990	-0.8	0.9	17	dbSNP_131	3	660,5334		34,592,2371	no	coding-synonymous,coding-synonymous	HIC1	NM_001098202.1,NM_006497.3	,	46,873,3254	TT,TC,CC		11.011,12.9677,11.5624	,	349/734,330/715	1960974	965,7381	1176	2997	4173	SO:0001819	synonymous_variant	3090	exon2			GGAGCGCGGCTCC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1047C>T	17.37:g.1960974C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001098202	0	0	1	2	1	D3DTI4	Silent	SNP	ENST00000322941.3	37	CCDS42229.1																																																																																			C|0.839;T|0.161		0.776	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		T	1960974	C	T	1960974	2	4	15	1	0	0	0	0	0	0	0	1	7128	755	27	1		1	HIC1	17	1960974	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	495137	1960974	79234236	52	3250											
NLRP1	22861	bcgsc.ca	37	chr17	5436263	5436263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagaggcaggagaaggcaCgcacaagagttccaccggta	14	9	0	3	rs2301582	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:5436263C>T	ENST00000572272.1	-	11	3174	c.3175G>A	c.(3175-3177)Gtg>Atg	p.V1059M	NLRP1_ENST00000577119.1_Missense_Mutation_p.V1029M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V1059M|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.V1063M|NLRP1_ENST00000354411.3_Missense_Mutation_p.V1029M|NLRP1_ENST00000345221.3_Missense_Mutation_p.V1059M			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1059			V -> M (in dbSNP:rs2301582).		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)				GGAGAAGGCACGCACAAGAGT	0.607													C|||	923	0.184305	0.0787	0.3573	5008	,	,		17458	0.0228		0.3738	False		,,,				2504	0.1759				p.V1063M		.											.	NLRP1-274	0			c.G3187A						.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	567,3839	254.6+/-260.1	35,497,1671	89	78	82		3187,3175,3175,3085,3085	0.8	0	17	dbSNP_100	82	3421,5179	504.5+/-376.2	664,2093,1543	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	21,21,21,21,21	699,2590,3214	TT,TC,CC		39.7791,12.8688,30.6628	benign,benign,benign,benign,benign	1063/1376,1059/1430,1059/1474,1029/1444,1029/1400	5436263	3988,9018	2203	4300	6503	SO:0001583	missense	22861	exon11			AAGGCACGCACAA	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.3175G>A	17.37:g.5436263C>T	ENSP00000460475:p.Val1059Met	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	135	5	NM_001033053	0	0	2	2	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	464	0.21245421245421245	46	0.09349593495934959	123	0.3397790055248619	16	0.027972027972027972	279	0.36807387862796836	C	8.966	0.971710	0.18736	0.128688	0.397791	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.71817	-0.6;-0.6;-0.58;-0.48;-0.58	3.94	0.836	0.18891	.	1.178250	0.06625	N	0.758189	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;P;P;P;P;B	0.42039	0.434;0.769;0.769;0.658;0.769;0.095	B;B;B;B;B;B	0.24701	0.055;0.037;0.037;0.017;0.037;0.01	T	0.17653	-1.0362	9	0.49607	T	0.09	.	6.2112	0.20630	0.1028:0.3672:0.53:0.0	rs2301582;rs17765850;rs52830015;rs56943859;rs2301582	325;1029;1029;1059;1059;1063	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	M	1063;1063;1059;1029;1059;325	ENSP00000442029:V1063M;ENSP00000262467:V1063M;ENSP00000269280:V1059M;ENSP00000346390:V1029M;ENSP00000324366:V1059M	ENSP00000262467:V1063M	V	-	1	0	NLRP1	5376987	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.977000	0.03782	0.255000	0.21593	-0.236000	0.12185	GTG	C|0.738;T|0.261		0.607	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5436263	C	T	5436263	3	4	15	1	0	0	0	0	1	0	0	0	10510	536	19	1	1337	1	NLRP1	17	5436263	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	3475289	5436263	75758947	53	3251											
MYO18A	399687	bcgsc.ca	37	chr17	27413578	27413578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggttagcagcctccagGctttctagatccatctccta	7	14	3	1			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:27413578G>T	ENST00000527372.1	-	39	5910	c.5730C>A	c.(5728-5730)agC>agA	p.S1910R	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.S1910R|MYO18A_ENST00000354329.4_Missense_Mutation_p.S1910R|MYO18A_ENST00000533112.1_Missense_Mutation_p.S1873R|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1910					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)			CAGCCTCCAGGCTTTCTAGAT	0.557																																					p.S1910R	Esophageal Squamous(182;472 2015 7001 15270 22562)	.											.	MYO18A-22	0			c.C5730A						.						33	32	32					17																	27413578		1947	4137	6084	SO:0001583	missense	399687	exon39			CTCCAGGCTTTCT	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.5730C>A	17.37:g.27413578G>T	ENSP00000437073:p.Ser1910Arg	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_078471	0	0	1	1	0	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.078945|4.078945	0.76528|0.76528	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000527859|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	.|D;D;D;D	.|0.88586	.|-2.27;-2.4;-2.28;-2.27	5.6|5.6	-8.25|-8.25	0.01025|0.01025	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90490|0.90490	0.7021|0.7021	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.98;0.999;0.999;0.99	.|P;D;D;P	.|0.80764	.|0.731;0.994;0.952;0.743	D|D	0.89870|0.89870	0.4022|0.4022	5|10	.|0.72032	.|D	.|0.01	.|.	19.8775|19.8775	0.96884|0.96884	0.2299:0.0:0.7701:0.0|0.2299:0.0:0.7701:0.0	.|.	.|1513;1873;1910;1910	.|F8W6Y3;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	D|R	173|1910;1873;1873;1910;1910;806;806;1513;191	.|ENSP00000346291:S1910R;ENSP00000435932:S1873R;ENSP00000434228:S1910R;ENSP00000437073:S1910R	.|ENSP00000346291:S1910R	A|S	-|-	2|3	0|2	MYO18A|MYO18A	24437704|24437704	0.957000|0.957000	0.32711|0.32711	0.595000|0.595000	0.28798|0.28798	0.955000|0.955000	0.61496|0.61496	0.088000|0.088000	0.14979|0.14979	-1.505000|-1.505000	0.01807|0.01807	-0.768000|-0.768000	0.03414|0.03414	GCC|AGC	.		0.557	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27413578	G	T	27413578	3	4	15	1	0	0	0	0	1	0	0	0	10103	1194	42	3	450	3	MYO18A	17	27413578	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	21977315	27413578	53781632	54	3252											
ABCA5	23461	broad.mit.edu	37	chr17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T													tatctttaaaaattcttttaINStttttttttctttttctgct							TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATTCTTTTATTTTTTTTTCT	0.243																																					p.I248fs		.											.	ABCA5-93	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.743_744insA						.																																			SO:0001589	frameshift_variant	23461	exon6			TCTTTTATTTTTT	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.743dupA	17.37:g.67302920_67302920dupT	ENSP00000376443:p.Ile248fs	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	7	2	NM_172232	0	0	0	0	0	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	CCDS11685.1																																																																																			.		0.243	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		T	67302912	-	T	67302911	7	5	15	1	0	1	1	0	0	0	0	0	35	449	16	0	4321	0	ABCA5	17	67302911	Frame_Shift_Ins	INS	-	TCGA-OR-A5JI-01A-11D-A29I-10	39889333	67302911	13892299	55	3253											
NPTX1	4884	hgsc.bcm.edu	37	chr17	78449948	78449948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcccgcccgggcctcgCcggctccggggtccagcgtg	16	20	0	0	rs144443274	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr17:78449948C>T	ENST00000306773.4	-	1	456	c.299G>A	c.(298-300)gGc>gAc	p.G100D	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	100					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ccgggcctcgccggcTCCGGG	0.721													C|||	393	0.0784744	0.0091	0.098	5008	,	,		6949	0.0238		0.173	False		,,,				2504	0.1176				p.G100D		.											.	NPTX1-90	0			c.G299A						.	C	ASP/GLY	146,4108		4,138,1985	11	15	14		299	2.1	1	17	dbSNP_134	14	1445,6809		128,1189,2810	no	missense	NPTX1	NM_002522.3	94	132,1327,4795	TT,TC,CC		17.5067,3.4321,12.7199	benign	100/433	78449948	1591,10917	2127	4127	6254	SO:0001583	missense	4884	exon1			GCCTCGCCGGCTC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.299G>A	17.37:g.78449948C>T	ENSP00000307549:p.Gly100Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	11	NM_002522	0	0	0	0	0	B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	196	0.08974358974358974	6	0.012195121951219513	42	0.11602209944751381	10	0.017482517482517484	138	0.1820580474934037	C	14.35	2.508706	0.44660	0.034321	0.175067	ENSG00000171246	ENST00000306773	T	0.10382	2.88	3.44	2.11	0.27256	.	0.738536	0.13049	N	0.417861	T	0.00012	0.0000	N	0.14661	0.345	0.34958	P	0.24807100000000004	P	0.43287	0.802	B	0.35413	0.202	T	0.37174	-0.9717	9	0.15066	T	0.55	-13.6643	4.112	0.10063	0.0:0.5355:0.2155:0.249	.	100	Q15818	NPTX1_HUMAN	D	100	ENSP00000307549:G100D	ENSP00000307549:G100D	G	-	2	0	NPTX1	76064543	0.996000	0.38824	0.994000	0.49952	0.971000	0.66376	1.864000	0.39469	1.482000	0.48325	0.484000	0.47621	GGC	C|0.910;T|0.090		0.721	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78449948	C	T	78449948	3	4	15	1	0	0	0	0	1	0	0	0	10641	739	26	3	1019	3	NPTX1	17	78449948	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	11147037	78449948	2745262	56	3254											
ANKRD30B	374860	bcgsc.ca	37	chr18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acatttttagatcagatgttCccatcagaatccaaacgaga	6	9	2	4	rs9675365	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744				p.F477L		.											.	ANKRD30B-24	2	Substitution - Missense(2)	prostate(2)	c.C1431G						.						167	153	157					18																	14779969		692	1591	2283	SO:0001583	missense	374860	exon11			GATGTTCCCATCA	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.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC	C|0.546;G|0.454		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		G	14779969	C	G	14779969	3	3	15	1	0	0	0	0	1	0	0	0	659	854	30	3	1473	3	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		14779969	63297279	57	3255											
RAX	30062	hgsc.bcm.edu	37	chr18	56936395	56936395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcgcgagaggTtgcaggccggggcccaacgg	22	12	0	1	rs7226481	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr18:56936395T>C	ENST00000334889.3	-	3	1068	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	294					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCGCGAGAGGTTGCAGGCCGG	0.771													C|||	1143	0.228235	0.2421	0.1671	5008	,	,		8659	0.129		0.3032	False		,,,				2504	0.2781				p.Q294Q	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.A882G						.	C		688,3078		75,538,1270	4	6	5		882	2.2	0.3	18	dbSNP_116	5	1688,5834		233,1222,2306	no	coding-synonymous	RAX	NM_013435.2		308,1760,3576	CC,CT,TT		22.4408,18.2687,21.0489		294/347	56936395	2376,8912	1883	3761	5644	SO:0001819	synonymous_variant	30062	exon3			GAGAGGTTGCAGG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.882A>G	18.37:g.56936395T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_013435	0	0	0	0	0	Q86V11	Silent	SNP	ENST00000334889.3	37	CCDS11972.1																																																																																			T|0.767;C|0.233		0.771	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			C	56936395	T	C	56936395	2	2	15	1	0	0	0	0	0	0	0	1	13141	1722	60	4		4	RAX	18	56936395	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	42156426	56936395	21140853	58	3256											
CTDP1	9150	bcgsc.ca	37	chr18	77473086	77473086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtatacttccagggcacGggtgatatgaatgcgccccc	11	11	0	2	rs599554	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr18:77473086G>A	ENST00000299543.7	+	7	1125	c.978G>A	c.(976-978)acG>acA	p.T326T	CTDP1_ENST00000075430.7_Silent_p.T326T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	326	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCAGGGCACGGGTGATATGA	0.448													G|||	1046	0.208866	0.3147	0.2205	5008	,	,		15472	0.1389		0.175	False		,,,				2504	0.1646				p.T326T		.											.	CTDP1-90	0			c.G978A						.	G	,,	1272,3134	435.3+/-344.3	200,872,1131	77	74	75		621,978,978	-9.6	0	18	dbSNP_83	75	1463,7135	278.0+/-293.2	134,1195,2970	no	coding-synonymous,coding-synonymous,coding-synonymous	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	334,2067,4101	AA,AG,GG		17.0156,28.8697,21.032	,,	207/843,326/962,326/868	77473086	2735,10269	2203	4299	6502	SO:0001819	synonymous_variant	9150	exon7			GGGCACGGGTGAT	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.978G>A	18.37:g.77473086G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	105	5	NM_004715	0	0	2	2	0	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																			A|0.215;C|0.003		0.448	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		A	77473086	G	A	77473086	2	1	15	1	0	0	0	0	0	0	0	1	4011	1103	39	1		1	CTDP1	18	77473086	Silent	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	20536691	77473086	604162	59	3257											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_019112	0	0	0	8	8	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	15	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10		1065044	58063939	60	3258											
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704002	29704002	+	Silent	SNP	T	T	C													aggacgggcgcgaacgggccTgagcgggatgctaccgacaa					rs11666764	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1	2	2					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704002	T	C	29704002	2	2	15	1	0	0	0	0	0	0	0	1	17070	1567	55	4		4	UQCRFS1	19	29704002	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	28638958	29704002	29424981	61	3259	25	2									
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C													cgcgaacgggcctgagcgggAtgctaccgacaacatggcga					rs8100724	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1	2	2					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704010	A	C	29704010	3	2	15	1	0	0	0	0	1	0	0	0	17070	333	12	5	816	5	UQCRFS1	19	29704010	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	8	29704010	29424973	62	3260	25	2									
SIPA1L3	23094	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	38696869	38696869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctgcagggagaagAaggagctctgaggtgggagg	18	5	3	4			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:38696869A>G	ENST00000222345.6	+	22	5844	c.5335A>G	c.(5335-5337)Aag>Gag	p.K1779E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1779					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)			CAGGGAGAAGAAGGAGCTCTG	0.687																																					p.K1779E		.											.	SIPA1L3-91	0			c.A5335G						.						21	26	24					19																	38696869		2186	4270	6456	SO:0001583	missense	23094	exon22			GAGAAGAAGGAGC	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.5335A>G	19.37:g.38696869A>G	ENSP00000222345:p.Lys1779Glu	Somatic	211	2		WXS	Illumina GAIIx	Phase_I	485	55	NM_015073	0	0	3	3	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251493	0.59212	.	.	ENSG00000105738	ENST00000222345	T	0.78126	-1.15	4.62	3.61	0.41365	.	0.330988	0.28964	N	0.013573	T	0.68897	0.3051	L	0.43152	1.355	0.33569	D	0.598344	B	0.09022	0.002	B	0.10450	0.005	T	0.71411	-0.4601	10	0.87932	D	0	-35.126	9.0397	0.36309	0.9111:0.0:0.0889:0.0	.	1779	O60292	SI1L3_HUMAN	E	1779	ENSP00000222345:K1779E	ENSP00000222345:K1779E	K	+	1	0	SIPA1L3	43388709	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.071000	0.57556	0.811000	0.34303	0.454000	0.30748	AAG	.		0.687	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		G	38696869	A	G	38696869	3	3	15	1	0	0	0	0	1	0	0	0	14376	247	9	4	5413	4	SIPA1L3	19	38696869	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	8992859	38696869	20432114	63	3261											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	FBXO17_ENST00000595329.1_Silent_p.P14P|CTC-360G5.8_ENST00000599996.1_5'Flank|SARS2_ENST00000448145.2_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	8	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	15	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	744049	39440918	19688065	64	3262											
KLK11	11012	bcgsc.ca	37	chr19	51530741	51530741	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgagacctctgcccgatgaCttccagtcccgcagccacct	9	17	1	2	rs61752567	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:51530741C>G	ENST00000594768.1	-	1	218	c.33G>C	c.(31-33)aaG>aaC	p.K11N	KLK11_ENST00000391804.3_Intron|KLK11_ENST00000453757.3_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000600362.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	11						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGCCCGATGACTTCCAGTCCC	0.607													C|||	261	0.0521166	0.0734	0.0648	5008	,	,		17689	0		0.0805	False		,,,				2504	0.0389				p.K11N		.											.	KLK11-650	0			c.G33C						.	C	,,ASN/LYS	307,4099	166.5+/-197.7	16,275,1912	92	93	92		,,33	1.7	0.1	19	dbSNP_129	92	707,7893	174.2+/-224.5	24,659,3617	yes	intron,intron,missense	KLK11	NM_001167605.1,NM_006853.2,NM_144947.1	,,94	40,934,5529	GG,GC,CC		8.2209,6.9678,7.7964	,,possibly-damaging	,,11/283	51530741	1014,11992	2203	4300	6503	SO:0001583	missense	11012	exon1			CGATGACTTCCAG	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.33G>C	19.37:g.51530741C>G	ENSP00000473047:p.Lys11Asn	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	140	5	NM_144947	0	0	0	0	0	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	CCDS12818.1	125	0.05723443223443223	36	0.07317073170731707	26	0.0718232044198895	0	0.0	63	0.08311345646437995	c	10.13	1.265469	0.23136	0.069678	0.082209	ENSG00000167757	ENST00000319756	D	0.88277	-2.36	2.76	1.71	0.24356	.	.	.	.	.	T	0.17662	0.0424	N	0.22421	0.69	0.18873	N	0.999988	P	0.48162	0.906	B	0.38056	0.264	T	0.49360	-0.8948	9	0.48119	T	0.1	.	4.9789	0.14155	0.0:0.8224:0.0:0.1776	rs61752567	11	Q9UBX7	KLK11_HUMAN	N	11	ENSP00000324414:K11N	ENSP00000324414:K11N	K	-	3	2	KLK11	56222553	0.008000	0.16893	0.051000	0.19133	0.137000	0.21094	0.546000	0.23284	0.694000	0.31654	0.467000	0.42956	AAG	C|0.927;G|0.073		0.607	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		G	51530741	C	G	51530741	3	3	15	1	0	0	0	0	1	0	0	0	8426	564	20	3	914	3	KLK11	19	51530741	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	12089823	51530741	7598242	65	3263											
FPR1	2357	broad.mit.edu	37	chr19	52249473	52249473	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctataagggccaccaCctgatatggggaccagcaga	13	10	0	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:52249473C>G	ENST00000595042.1	-	3	916	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	FPR1_ENST00000304748.4_Missense_Mutation_p.V259L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	259					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)	AGGGCCACCACCTGATATGGG	0.498																																					p.V259L		.											.	FPR1-524	0			c.G775C						.						71	61	64					19																	52249473		2203	4300	6503	SO:0001583	missense	2357	exon3			CCACCACCTGATA	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.775G>C	19.37:g.52249473C>G	ENSP00000471493:p.Val259Leu	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	182	5	NM_001193306	0	0	2	2	0	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.419216	0.01136	.	.	ENSG00000171051	ENST00000304748	T	0.72282	-0.64	3.55	-4.32	0.03688	GPCR, rhodopsin-like superfamily (1);	0.718085	0.12766	N	0.440915	T	0.35393	0.0930	N	0.03115	-0.41	0.19300	N	0.999975	B	0.09022	0.002	B	0.15870	0.014	T	0.42344	-0.9457	10	0.02654	T	1	.	8.1277	0.31008	0.0:0.4114:0.3838:0.2049	.	259	P21462	FPR1_HUMAN	L	259	ENSP00000302707:V259L	ENSP00000302707:V259L	V	-	1	0	FPR1	56941285	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.798000	0.01747	-0.705000	0.05035	-0.903000	0.02851	GTG	.		0.498	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		G	52249473	C	G	52249473	3	3	15	1	0	0	0	0	1	0	0	0	6062	507	18	3	281	3	FPR1	19	52249473	Missense_Mutation	SNP	C	TCGA-OR-A5JI-01A-11D-A29I-10	718732	52249473	6879510	66	3264											
NLRP4	147945	bcgsc.ca	37	chr19	56369593	56369593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctccctgctcatcgcTatcaaacccgtgtgcccgaa	9	16	2	0	rs421810	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr19:56369593T>C	ENST00000301295.6	+	3	1256	c.834T>C	c.(832-834)gcT>gcC	p.A278A	NLRP4_ENST00000587891.1_Silent_p.A203A|NLRP4_ENST00000346986.5_Silent_p.A278A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	278	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGCTCATCGCTATCAAACCCG	0.552													C|||	2661	0.53135	0.4523	0.4841	5008	,	,		16520	0.6657		0.4274	False		,,,				2504	0.6401				p.A278A		.											.	NLRP4-216	0			c.T834C						.	C		1956,2450	618.8+/-393.2	434,1088,681	68	75	72		834	-8.2	0	19	dbSNP_80	72	3589,5011	627.5+/-398.0	754,2081,1465	no	coding-synonymous	NLRP4	NM_134444.4		1188,3169,2146	CC,CT,TT		41.7326,44.394,42.6342		278/995	56369593	5545,7461	2203	4300	6503	SO:0001819	synonymous_variant	147945	exon3			CATCGCTATCAAA	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.834T>C	19.37:g.56369593T>C		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	116	5	NM_134444	0	0	0	0	0	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			T|0.546;C|0.454		0.552	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		C	56369593	T	C	56369593	2	2	15	1	0	0	0	0	0	0	0	1	10518	1509	53	4		4	NLRP4	19	56369593	Silent	SNP	T	TCGA-OR-A5JI-01A-11D-A29I-10	4120120	56369593	2759390	67	3265											
CDH4	1002	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	60427870	60427870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccccatcgacctgtacAtctacgtcatcgacatgaat	6	13	2	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr20:60427870A>G	ENST00000360469.5	+	6	881	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	CDH4_ENST00000543233.1_Missense_Mutation_p.I191V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	265	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGACCTGTACATCTACGTCAT	0.587																																					p.I265V		.											.	CDH4-282	0			c.A793G						.						189	144	159					20																	60427870		2203	4300	6503	SO:0001583	missense	1002	exon6			CTGTACATCTACG	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.793A>G	20.37:g.60427870A>G	ENSP00000353656:p.Ile265Val	Somatic	237	1		WXS	Illumina GAIIx	Phase_I	444	69	NM_001794	0	0	0	0	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028185	0.35797	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.56941	0.43;0.43	4.76	4.76	0.60689	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.052748	0.64402	D	0.000001	T	0.45337	0.1337	L	0.45581	1.43	0.80722	D	1	B	0.22414	0.069	B	0.18871	0.023	T	0.34825	-0.9813	9	.	.	.	.	14.2636	0.66102	1.0:0.0:0.0:0.0	.	265	P55283	CADH4_HUMAN	V	265;173;191	ENSP00000353656:I265V;ENSP00000443301:I191V	.	I	+	1	0	CDH4	59861265	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.009000	0.93606	1.786000	0.52430	0.459000	0.35465	ATC	.		0.587	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		G	60427870	A	G	60427870	3	3	15	1	0	0	0	0	1	0	0	0	3119	217	8	4	815	4	CDH4	20	60427870	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10		60427870	2597650	68	3266											
RTDR1	27156	bcgsc.ca	37	chr22	23482483	23482483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagggctttctgcctcGtctggaggtcctctgactgc	12	13	3	2	rs35211242	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr22:23482483G>A	ENST00000216036.4	-	2	321	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RTDR1_ENST00000406876.1_Missense_Mutation_p.T42M	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		42			T -> M (in dbSNP:rs35211242). {ECO:0000269|PubMed:10607907}.							breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TTTCTGCCTCGTCTGGAGGTC	0.562													G|||	413	0.0824681	0.0182	0.0879	5008	,	,		18478	0.0387		0.1471	False		,,,				2504	0.1442				p.T42M		.											.	RTDR1-516	0			c.C125T						.	G	MET/THR	159,4247	107.3+/-145.7	4,151,2048	159	121	134		125	3.9	0.1	22	dbSNP_126	134	1340,7260	262.1+/-284.2	99,1142,3059	yes	missense	RTDR1	NM_014433.2	81	103,1293,5107	AA,AG,GG		15.5814,3.6087,11.5254	probably-damaging	42/349	23482483	1499,11507	2203	4300	6503	SO:0001583	missense	27156	exon2			TGCCTCGTCTGGA																												ENST00000216036.4:c.125C>T	22.37:g.23482483G>A	ENSP00000216036:p.Thr42Met	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	123	7	NM_014433	0	0	0	0	0		Missense_Mutation	SNP	ENST00000216036.4	37	CCDS13803.1	174	0.07967032967032966	6	0.012195121951219513	32	0.08839779005524862	24	0.04195804195804196	112	0.14775725593667546	G	13.37	2.218034	0.39201	0.036087	0.155814	ENSG00000100218	ENST00000216036;ENST00000452757;ENST00000406876	T;T;T	0.52754	2.19;0.65;2.19	4.91	3.89	0.44902	Armadillo-like helical (1);Armadillo-type fold (1);	0.202525	0.40302	N	0.001127	T	0.00496	0.0016	M	0.78801	2.425	0.23923	P	0.99645841	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.21109	-1.0255	9	0.49607	T	0.09	-11.896	10.8955	0.47021	0.0924:0.0:0.9076:0.0	rs35211242;rs62220915	63;42	B7Z5X4;Q9UHP6	.;RTDR1_HUMAN	M	42;2;42	ENSP00000216036:T42M;ENSP00000391552:T2M;ENSP00000385567:T42M	ENSP00000216036:T42M	T	-	2	0	RTDR1	21812483	0.994000	0.37717	0.054000	0.19295	0.039000	0.13416	2.293000	0.43558	1.214000	0.43395	0.561000	0.74099	ACG	G|0.894;A|0.106		0.562	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			A	23482483	G	A	23482483	3	1	15	1	0	0	0	0	1	0	0	0	13764	1145	40	1	945	1	RTDR1	22	23482483	Missense_Mutation	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10		23482483	27822083	69	3267											
ASPHD2	57168	bcgsc.ca	37	chr22	26830285	26830285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaccttttacttggtcaAtcagggggtttgtgttccca	10	9	3	0	rs34902186	byFrequency	TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chr22:26830285A>G	ENST00000215906.5	+	2	1142	c.704A>G	c.(703-705)aAt>aGt	p.N235S		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	235			N -> S (in dbSNP:rs34902186).		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						TACTTGGTCAATCAGGGGGTT	0.522													A|||	132	0.0263578	0.0045	0.049	5008	,	,		20675	0		0.0795	False		,,,				2504	0.0123				p.N235S		.											.	ASPHD2-69	0			c.A704G						.	A	SER/ASN	65,4341	59.3+/-96.0	0,65,2138	109	101	104		704	3.5	0.9	22	dbSNP_126	104	811,7789	188.0+/-235.1	36,739,3525	yes	missense	ASPHD2	NM_020437.4	46	36,804,5663	GG,GA,AA		9.4302,1.4753,6.7354	benign	235/370	26830285	876,12130	2203	4300	6503	SO:0001583	missense	57168	exon2			TGGTCAATCAGGG	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.704A>G	22.37:g.26830285A>G	ENSP00000215906:p.Asn235Ser	Somatic	252	0		WXS	Illumina GAIIx	Phase_I	136	7	NM_020437	0	0	1	1	0	B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	85	0.03891941391941392	4	0.008130081300813009	15	0.04143646408839779	0	0.0	66	0.0870712401055409	A	11.37	1.618941	0.28801	0.014753	0.094302	ENSG00000128203	ENST00000215906	T	0.41400	1.0	4.82	3.49	0.39957	.	0.100911	0.64402	N	0.000003	T	0.00936	0.0031	L	0.34521	1.04	0.21325	P	0.999723184	B	0.12630	0.006	B	0.17722	0.019	T	0.13845	-1.0494	9	0.08179	T	0.78	-20.537	8.0309	0.30465	0.8759:0.0:0.1241:0.0	rs34902186	235	Q6ICH7	ASPH2_HUMAN	S	235	ENSP00000215906:N235S	ENSP00000215906:N235S	N	+	2	0	ASPHD2	25160285	1.000000	0.71417	0.942000	0.38095	0.982000	0.71751	4.499000	0.60380	0.656000	0.30886	0.455000	0.32223	AAT	A|0.946;G|0.054		0.522	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		G	26830285	A	G	26830285	3	3	15	1	0	0	0	0	1	0	0	0	1056	101	4	4	706	4	ASPHD2	22	26830285	Missense_Mutation	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10	3347802	26830285	24474281	70	3268											
SSX1	6756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48123217	48123217	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccttcacattataaagAtcatgcccaagaagccagca	6	11	2	2			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chrX:48123217A>T	ENST00000376919.3	+	6	467	c.331A>T	c.(331-333)Atc>Ttc	p.I111F		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	111		Breakpoint for translocation to form the SSXT-SSX1 fusion protein.			regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CATTATAAAGATCATGCCCAA	0.423			T	SS18	synovial sarcoma																																p.I111F	Esophageal Squamous(175;994 1982 2214 6527 18857)	.		Dom	yes		X	Xp11.23-p11.22	6756	"synovial sarcoma, X breakpoint 1"		M	.	SSX1-522	0			c.A331T						.						173	166	168					X																	48123217		2203	4299	6502	SO:0001630	splice_region_variant	6756	exon6			ATAAAGATCATGC	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.331-1A>T	X.37:g.48123217A>T		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	210	29	NM_005635	0	0	0	0	0	A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	10.15	1.270287	0.23221	.	.	ENSG00000126752	ENST00000376919	T	0.06849	3.25	1.31	-2.55	0.06288	.	.	.	.	.	T	0.10380	0.0254	L	0.60455	1.87	0.09310	N	0.999992	D	0.54772	0.968	P	0.47673	0.554	T	0.09596	-1.0667	8	.	.	.	.	5.3581	0.16073	0.6181:0.0:0.3819:0.0	.	111	Q16384	SSX1_HUMAN	F	111	ENSP00000366118:I111F	.	I	+	1	0	SSX1	48008161	0.373000	0.25073	0.000000	0.03702	0.001000	0.01503	-0.009000	0.12765	-0.950000	0.03659	-0.591000	0.04113	ATC	.		0.423	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635	Missense_Mutation	T	48123217	A	T	48123217	5	4	15	1	0	0	0	0	0	0	1	0	15250	347	12	5	349	5	SSX1	23	48123217	Splice_Site	SNP	A	TCGA-OR-A5JI-01A-11D-A29I-10		48123217	107147343	71	3269											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719018	64719018	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctgatggcatcattgtGtccaatgataactaccgaga	9	8	2	3			TCGA-OR-A5JI-01A-11D-A29I-10	TCGA-OR-A5JI-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3635255-1c8d-4532-b4ff-00d04a20ff79	6477b685-8285-40b9-ab7a-8faf6afd602e	g.chrX:64719018G>T	ENST00000338957.4	+	3	955	c.888G>T	c.(886-888)gtG>gtT	p.V296V	ZC3H12B_ENST00000423889.3_Silent_p.V285V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	296							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATCATTGTGTCCAATGATA	0.443																																					p.V296V		.											.	ZC3H12B-131	0			c.G888T						.						128	117	121					X																	64719018		1908	4108	6016	SO:0001819	synonymous_variant	340554	exon3			CATTGTGTCCAAT	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.888G>T	X.37:g.64719018G>T		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	138	4	NM_001010888	0	0	0	0	0	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	CCDS48131.2																																																																																			.		0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		T	64719018	G	T	64719018	2	4	15	1	0	0	0	0	0	0	0	1	17610	1364	48	3		3	ZC3H12B	23	64719018	Silent	SNP	G	TCGA-OR-A5JI-01A-11D-A29I-10	16595801	64719018	90551542	72	3270											
PRKCZ	5590	bcgsc.ca	37	chr1	2103506	2103506	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccccaggttctacgcggcCgagatctgcatcgccctcaa	9	17	3	1	rs2280272	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:2103506C>G	ENST00000400921.2	+	9	1208	c.525C>G	c.(523-525)gcC>gcG	p.A175A	PRKCZ_ENST00000400920.1_Silent_p.A175A|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	358					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|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)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	TCTACGCGGCCGAGATCTGCA	0.642													C|||	81	0.0161741	0	0.0014	5008	,	,		17537	0.0744		0	False		,,,				2504	0.0051				p.A358A		.											.	PRKCZ-1465	0			c.C1074G						.	C	,,,	6,4400	9.9+/-24.2	0,6,2197	75	58	64		525,525,762,1074	-5.3	0.5	1	dbSNP_100	64	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKCZ	NM_001033581.1,NM_001033582.1,NM_001242874.1,NM_002744.4	,,,	0,9,6494	GG,GC,CC		0.0349,0.1362,0.0692	,,,	175/410,175/410,254/489,358/593	2103506	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	5590	exon12			CGCGGCCGAGATC	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.525C>G	1.37:g.2103506C>G		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	80	6	NM_002744	0	0	10	10	0	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	CCDS41229.1																																																																																			C|0.994;G|0.006		0.642	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		G	2103506	C	G	2103506	2	3	16	1	0	0	0	0	0	0	0	1	12559	639	23	2		2	PRKCZ	1	2103506	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		2103506	247147115	1	3271											
HES3	390992	hgsc.bcm.edu	37	chr1	6305292	6305292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcgctgccccctggtgCccgagagcgccgccggcagc	15	19	0	1	rs61760836	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:6305292C>A	ENST00000377898.3	+	4	351	c.286C>A	c.(286-288)Ccc>Acc	p.P96T		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	96	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCCCCTGGTGCCCGAGAGCGC	0.751													C|||	2794	0.557907	0.3079	0.755	5008	,	,		7447	0.5615		0.6849	False		,,,				2504	0.6217				p.P96T		.											.	HES3-514	0			c.C286A						.	C	THR/PRO	1430,1518		391,648,435	2	3	2		286	2.4	0.2	1	dbSNP_129	2	4911,1731		1926,1059,336	no	missense	HES3	NM_001024598.3	38	2317,1707,771	AA,AC,CC		26.0614,48.5075,33.879	benign	96/187	6305292	6341,3249	1474	3321	4795	SO:0001583	missense	390992	exon4			CTGGTGCCCGAGA		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.286C>A	1.37:g.6305292C>A	ENSP00000367130:p.Pro96Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001024598	0	0	0	0	0	Q5TGS0	Missense_Mutation	SNP	ENST00000377898.3	37	CCDS41238.1	1241	0.5682234432234432	158	0.32113821138211385	254	0.7016574585635359	313	0.5472027972027972	516	0.6807387862796834	C	2.270	-0.367136	0.05069	0.485075	0.739386	ENSG00000173673	ENST00000377898	T	0.29397	1.57	3.31	2.4	0.29515	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.22003	0.063	B	0.17098	0.017	T	0.30765	-0.9967	8	0.11794	T	0.64	-26.1056	6.4315	0.21798	0.0:0.8639:0.0:0.1361	rs61760836	96	Q5TGS1	HES3_HUMAN	T	96	ENSP00000367130:P96T	ENSP00000367130:P96T	P	+	1	0	HES3	6227879	0.724000	0.28038	0.207000	0.23584	0.040000	0.13550	1.220000	0.32491	0.982000	0.38575	0.289000	0.19496	CCC	C|0.430;A|0.570		0.751	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305292	C	A	6305292	3	1	16	1	0	0	0	0	1	0	0	0	7094	739	26	3	296	3	HES3	1	6305292	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	4201786	6305292	242945329	2	3272			1	9		2	2	12	C		3.873074e-05
HES3	390992	hgsc.bcm.edu	37	chr1	6305303	6305303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggtgcccgagagcgcCgccggcagcaccatggacag	14	17	0	1	rs61760837	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:6305303C>A	ENST00000377898.3	+	4	362	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	99	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCGAGAGCGCCGCCGGCAGCA	0.771													C|||	2792	0.557508	0.3079	0.7536	5008	,	,		7640	0.5615		0.6839	False		,,,				2504	0.6217				p.A99A		.											.	HES3-514	0			c.C297A						.	C		1446,1378		419,608,385	2	3	2		297	0.2	0	1	dbSNP_129	2	4876,1552		1960,956,298	no	coding-synonymous	HES3	NM_001024598.3		2379,1564,683	AA,AC,CC		24.1444,48.796,31.6688		99/187	6305303	6322,2930	1412	3214	4626	SO:0001819	synonymous_variant	390992	exon4			GAGCGCCGCCGGC		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.297C>A	1.37:g.6305303C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001024598	0	0	0	0	0	Q5TGS0	Silent	SNP	ENST00000377898.3	37	CCDS41238.1																																																																																			C|0.438;A|0.562		0.771	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305303	C	A	6305303	2	1	16	1	0	0	0	0	0	0	0	1	7094	639	23	2		2	HES3	1	6305303	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	11	6305303	242945318	3	3273			1	9		2	2	12	C		3.873074e-05
H6PD	9563	bcgsc.ca	37	chr1	9307033	9307033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccccgacaggctgtggcGcagatcctgcctttccgaga	11	17	0	2	rs7524046	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:9307033G>A	ENST00000377403.2	+	3	938	c.636G>A	c.(634-636)gcG>gcA	p.A212A	H6PD_ENST00000602477.1_Silent_p.A223A	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	212	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)		AGGCTGTGGCGCAGATCCTGC	0.602													g|||	1115	0.222644	0.1074	0.2622	5008	,	,		15526	0.4038		0.2445	False		,,,				2504	0.1411				p.A212A		.											.	H6PD-90	0			c.G636A						.	A		698,3708	294.4+/-283.1	51,596,1556	94	91	92		636	-10.1	0.6	1	dbSNP_116	92	2054,6546	357.1+/-330.6	238,1578,2484	no	coding-synonymous	H6PD	NM_004285.3		289,2174,4040	AA,AG,GG		23.8837,15.842,21.1595		212/792	9307033	2752,10254	2203	4300	6503	SO:0001819	synonymous_variant	9563	exon3			TGTGGCGCAGATC	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.636G>A	1.37:g.9307033G>A		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	72	4	NM_004285	0	0	0	0	0	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																			G|0.772;A|0.228		0.602	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		A	9307033	G	A	9307033	2	1	16	1	0	0	0	0	0	0	0	1	6963	1074	38	1		1	H6PD	1	9307033	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	3001730	9307033	239943588	4	3274											
KIF17	57576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21013968	21013968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttggcttccacctcGgcaaacgggtcctgcaggcc	12	16	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:21013968G>A	ENST00000247986.2	-	8	2161	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.A617A|KIF17_ENST00000375044.1_Silent_p.A517A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	617					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTCCACCTCGGCAAACGGGT	0.652																																					p.A617A		.											.	KIF17-94	0			c.C1851T						.						68	64	65					1																	21013968		2203	4300	6503	SO:0001819	synonymous_variant	57576	exon8			CACCTCGGCAAAC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1851C>T	1.37:g.21013968G>A		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	67	37	NM_001122819	0	0	0	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																			.		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21013968	G	A	21013968	2	1	16	1	0	0	0	0	0	0	0	1	8306	1103	39	1		1	KIF17	1	21013968	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	11706935	21013968	228236653	5	3275											
LUZP1	7798	bcgsc.ca	37	chr1	23418803	23418803	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggcttctctctgccactgGatttgatgactcgacacctc	8	14	2	2	rs35645814	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:23418803G>C	ENST00000302291.4	-	4	2753	c.1952C>G	c.(1951-1953)tCc>tGc	p.S651C	LUZP1_ENST00000314174.5_Missense_Mutation_p.S651C|LUZP1_ENST00000374623.3_Missense_Mutation_p.S651C|LUZP1_ENST00000418342.1_Missense_Mutation_p.S651C			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	651					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTGCCACTGGATTTGATGAC	0.478													G|||	17	0.00339457	8e-04	0.0029	5008	,	,		22089	0		0.0139	False		,,,				2504	0				p.S651C		.											.	LUZP1-90	0			c.C1952G						.	G	CYS/SER,CYS/SER	15,4391	23.3+/-48.9	0,15,2188	176	166	169		1952,1952	1.6	0.1	1	dbSNP_126	169	117,8483	61.7+/-123.6	2,113,4185	yes	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	112,112	2,128,6373	CC,CG,GG		1.3605,0.3404,1.0149	possibly-damaging,possibly-damaging	651/1077,651/1077	23418803	132,12874	2203	4300	6503	SO:0001583	missense	7798	exon4			CCACTGGATTTGA	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1952C>G	1.37:g.23418803G>C	ENSP00000303758:p.Ser651Cys	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	173	6	NM_033631	0	0	0	0	0	Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	11	0.005036630036630037	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	9	0.011873350923482849	G	13.12	2.141010	0.37825	0.003404	0.013605	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.17054	2.52;2.52;2.52;2.3	5.74	1.62	0.23740	.	0.602245	0.14982	N	0.287204	T	0.10035	0.0246	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.24941	-1.0146	10	0.46703	T	0.11	.	3.6656	0.08254	0.1449:0.1318:0.5869:0.1364	rs35645814	651;651	Q86V48-2;Q86V48	.;LUZP1_HUMAN	C	651	ENSP00000393460:S651C;ENSP00000363752:S651C;ENSP00000303758:S651C;ENSP00000313705:S651C	ENSP00000303758:S651C	S	-	2	0	LUZP1	23291390	0.048000	0.20356	0.068000	0.19968	0.957000	0.61999	1.218000	0.32467	0.049000	0.15920	0.650000	0.86243	TCC	G|0.991;C|0.009		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		C	23418803	G	C	23418803	3	2	16	1	0	0	0	0	1	0	0	0	9121	1174	41	3	1286	3	LUZP1	1	23418803	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	2404835	23418803	225831818	6	3276											
FOXD3	27022	hgsc.bcm.edu	37	chr1	63788951	63788951	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggacagcctcagccgccCcaccagcagcccctgacatt	8	20	1	1	rs2274187	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:63788951C>A	ENST00000371116.2	+	1	222	c.222C>A	c.(220-222)ccC>ccA	p.P74P	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	74					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTCAGCCGCCCCACCAGCAGC	0.781													c|||	590	0.117812	0.0136	0.1873	5008	,	,		7772	0.1617		0.1829	False		,,,				2504	0.0971				p.P74P	Pancreas(68;276 1750 11966 31252)	.											.	FOXD3-226	0			c.C222A						.						3	5	4					1																	63788951		1601	3141	4742	SO:0001819	synonymous_variant	27022	exon1			GCCGCCCCACCAG	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.222C>A	1.37:g.63788951C>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	19	15	NM_012183	0	0	0	0	0	Q9BYM2|Q9UDD1	Silent	SNP	ENST00000371116.2	37	CCDS624.1																																																																																			C|0.842;A|0.158		0.781	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			A	63788951	C	A	63788951	2	1	16	1	0	0	0	0	0	0	0	1	6020	610	22	3		3	FOXD3	1	63788951	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	40370148	63788951	185461670	7	3277											
CTBS	1486	hgsc.bcm.edu	37	chr1	85040024	85040024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcagcgccagcagcgcCagcagcgctagacccgggac	14	17	0	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																					p.L25L		.											.	CTBS-90	0			c.G75A						.						3	4	4					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	1486	exon1			CAGCGCCAGCAGC	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	36	3	NM_004388	0	0	1	1	0	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																			.		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		T	85040024	C	T	85040024	2	4	16	1	0	0	0	0	0	0	0	1	4008	581	21	3		3	CTBS	1	85040024	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	21251073	85040024	164210597	8	3278											
BPNT1	10380	hgsc.bcm.edu	37	chr1	220236230	220236230	+	Missense_Mutation	SNP	G	G	C													agcagggacttctttcagctGaaacccaaaggcgcctaaac							TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:220236230G>C	ENST00000469520.2	-	8	990	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	BPNT1_ENST00000544404.1_Missense_Mutation_p.Q126E|BPNT1_ENST00000414869.2_Missense_Mutation_p.Q145E|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_Missense_Mutation_p.Q196E|BPNT1_ENST00000322067.7_Missense_Mutation_p.Q181E			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.Q181*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCTTTCAGCTGAAACCCAAAG	0.483																																					p.Q181E		.											.	BPNT1-91	1	Substitution - Nonsense(1)	skin(1)	c.C541G						.						110	125	120					1																	220236230		1911	4125	6036	SO:0001583	missense	10380	exon7			TCAGCTGAAACCC	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.541C>G	1.37:g.220236230G>C	ENSP00000446828:p.Gln181Glu	Somatic	228	1		WXS	Illumina GAIIx	Phase_I	118	31	NM_006085	0	0	0	0	0	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	3.581	-0.085603	0.07097	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.58	5.58	0.84498	.	0.104661	0.64402	D	0.000002	T	0.61825	0.2378	N	0.03177	-0.4	0.49582	D	0.999803	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.60919	-0.7167	10	0.02654	T	1	.	14.7623	0.69614	0.0:0.2631:0.7368:0.0	.	145;196;181	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	E	181;181;196;181;126;145;145	ENSP00000318852:Q181E;ENSP00000446828:Q181E;ENSP00000346862:Q196E;ENSP00000444398:Q126E;ENSP00000410348:Q145E;ENSP00000446953:Q145E	ENSP00000307087:Q181E	Q	-	1	0	BPNT1	218302853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.752000	0.55172	2.780000	0.95670	0.655000	0.94253	CAG	.		0.483	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		C	220236230	G	C	220236230	3	2	16	1	0	0	0	0	1	0	0	0	1498	1299	45	3	397	3	BPNT1	1	220236230	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	135196206	220236230	29014391	9	3279	26	3									
BPNT1	10380	hgsc.bcm.edu	37	chr1	220236234	220236255	+	Frame_Shift_Del	DEL	CCCAAAGGCGCCTAAACCTAAA	CCCAAAGGCGCCTAAACCTAAA	-													gggacttctttcagctgaaaCccaaaggcgcctaaacctaa					rs111614124		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	CCCAAAGGCGCCTAAACCTAAA	CCCAAAGGCGCCTAAACCTAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:220236234_220236255delCCCAAAGGCGCCTAAACCTAAA	ENST00000469520.2	-	8	965_986	c.516_537delTTTAGGTTTAGGCGCCTTTGGG	c.(514-537)gttttaggtttaggcgcctttgggfs	p.VLGLGAFG172fs	BPNT1_ENST00000544404.1_Frame_Shift_Del_p.VLGLGAFG117fs|BPNT1_ENST00000414869.2_Frame_Shift_Del_p.VLGLGAFG136fs|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_Frame_Shift_Del_p.VLGLGAFG187fs|BPNT1_ENST00000322067.7_Frame_Shift_Del_p.VLGLGAFG172fs			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	172					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGCTGAAACCCAAAGGCGCCTAAACCTAAAACTCCCCAGA	0.473																																					p.172_179del		.											.	BPNT1-91	0			c.516_537del						.																																			SO:0001589	frameshift_variant	10380	exon7			CTGAAACCCAAAG	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.516_537delTTTAGGTTTAGGCGCCTTTGGG	1.37:g.220236234_220236255delCCCAAAGGCGCCTAAACCTAAA	ENSP00000446828:p.Val172fs	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	110	0	NM_006085	0	0	0	0	0	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Frame_Shift_Del	DEL	ENST00000469520.2	37	CCDS41469.1																																																																																			.		0.473	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		-	220236255	CCCAAAGGCGCCTAAACCTAAA	-	220236234	7	5	16	1	0	1	0	1	0	0	0	0	1498	494	18	0	401	0	BPNT1	1	220236234	Frame_Shift_Del	DEL	CCCAAAGGCGCCTAAACCTAAA	TCGA-OR-A5JK-01A-11D-A29I-10	4	220236234	29014387	10	3280	26	3									
BPNT1	10380	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	220236235	220236252	+	In_Frame_Del	DEL	CCAAAGGCGCCTAAACCT	CCAAAGGCGCCTAAACCT	-													ggacttctttcagctgaaacCcaaaggcgcctaaacctaaa					rs111614124		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	CCAAAGGCGCCTAAACCT	CCAAAGGCGCCTAAACCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:220236235_220236252delCCAAAGGCGCCTAAACCT	ENST00000469520.2	-	8	968_985	c.519_536delAGGTTTAGGCGCCTTTGG	c.(517-537)ttaggtttaggcgcctttggg>ttg	p.GLGAFG174del	BPNT1_ENST00000544404.1_In_Frame_Del_p.GLGAFG119del|BPNT1_ENST00000414869.2_In_Frame_Del_p.GLGAFG138del|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_In_Frame_Del_p.GLGAFG189del|BPNT1_ENST00000322067.7_In_Frame_Del_p.GLGAFG174del			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	174					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAGCTGAAACCCAAAGGCGCCTAAACCTAAAACTCCCC	0.472																																					p.173_179del		.											.	BPNT1-91	0			c.519_536del						.																																			SO:0001651	inframe_deletion	10380	exon7			TGAAACCCAAAGG	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.519_536delAGGTTTAGGCGCCTTTGG	1.37:g.220236235_220236252delCCAAAGGCGCCTAAACCT	ENSP00000446828:p.Gly174_Gly179del	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	95	23	NM_006085	0	0	0	0	0	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	In_Frame_Del	DEL	ENST00000469520.2	37	CCDS41469.1																																																																																			.		0.472	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		-	220236252	CCAAAGGCGCCTAAACCT	-	220236235	7	5	16	1	0	1	0	1	0	0	0	0	1498	623	22	0	402	0	BPNT1	1	220236235	In_Frame_Del	DEL	CCAAAGGCGCCTAAACCT	TCGA-OR-A5JK-01A-11D-A29I-10	1	220236235	29014386	11	3281	26	3									
IRF2BP2	359948	hgsc.bcm.edu	37	chr1	234744413	234744413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctcggcggccccggcCgcggtggacaggctgtcggc	17	16	1	0	rs4636	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr1:234744413C>A	ENST00000366609.3	-	1	858	c.828G>T	c.(826-828)gcG>gcT	p.A276A	IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.A276A	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGGCCCCGGCCGCGGTGGACA	0.741													C|||	1306	0.260783	0.1619	0.2896	5008	,	,		9433	0.2083		0.4185	False		,,,				2504	0.2658				p.A276A		.											.	IRF2BP2-90	0			c.G828T						.	C	,	599,3223		57,485,1369	4	5	4		828,828	3.5	0.9	1	dbSNP_52	4	2729,5241		513,1703,1769	no	coding-synonymous,coding-synonymous	IRF2BP2	NM_001077397.1,NM_182972.2	,	570,2188,3138	AA,AC,CC		34.2409,15.6724,28.2225	,	276/572,276/588	234744413	3328,8464	1911	3985	5896	SO:0001819	synonymous_variant	359948	exon1			CCCGGCCGCGGTG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.828G>T	1.37:g.234744413C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_182972	0	0	0	10	10	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																			C|0.714;A|0.286		0.741	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234744413	C	A	234744413	2	1	16	1	0	0	0	0	0	0	0	1	7857	639	23	2		2	IRF2BP2	1	234744413	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	14508178	234744413	14506208	12	3282											
SIX3	6496	hgsc.bcm.edu	37	chr2	45171842	45171842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgacggagcgcgcAgacaccggcacctccatcct	10	18	0	2	rs338074	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18	19	19		942	1	1	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		G	45171842	A	G	45171842	2	3	16	1	0	0	0	0	0	0	0	1	14393	175	7	4		4	SIX3	2	45171842	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10		45171842	198027531	13	3283											
STON1	11037	bcgsc.ca	37	chr2	48809593	48809593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtctggggagtttacaGgaacttgaatctgaacctgt	12	7	2	2	rs3792234	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:48809593G>T	ENST00000406226.1	+	3	2016	c.1821G>T	c.(1819-1821)caG>caT	p.Q607H	STON1_ENST00000309835.3_Missense_Mutation_p.Q607H|STON1_ENST00000404752.1_Missense_Mutation_p.Q607H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q607H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q607H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q607H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q607H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q607H	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	607	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.		Q -> H (in dbSNP:rs3792234). {ECO:0000269|PubMed:15489334}.		endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.Q607H(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGTTTACAGGAACTTGAAT	0.498													T|||	1985	0.396366	0.2927	0.4135	5008	,	,		19325	0.37		0.4811	False		,,,				2504	0.4642				p.Q607H		.											.	STON1-91	2	Substitution - Missense(2)	prostate(2)	c.G1821T						.	T	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	1493,2913	677.9+/-403.5	249,995,959	67	66	67		1821,1821,1821,1821,1821	-11.3	0	2	dbSNP_107	67	4329,4271	574.5+/-390.1	1095,2139,1066	yes	missense,missense,missense,missense,missense	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	24,24,24,24,24	1344,3134,2025	TT,TG,GG		49.6628,33.8856,44.764	benign,benign,benign,benign,benign	607/1159,607/1136,607/736,607/736,607/1183	48809593	5822,7184	2203	4300	6503	SO:0001583	missense	11037	exon3			TTTACAGGAACTT	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1821G>T	2.37:g.48809593G>T	ENSP00000384615:p.Gln607His	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	143	6	NM_001198595	0	0	0	0	0	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	896	0.41025641025641024	150	0.3048780487804878	141	0.38950276243093923	226	0.3951048951048951	379	0.5	T	0.003	-2.467123	0.00169	0.338856	0.503372	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;3.1	5.65	-11.3	0.00108	Clathrin adaptor, mu subunit, C-terminal (3);	0.495539	0.25447	N	0.030601	T	0.00012	0.0000	N	0.03268	-0.37	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.40440	-0.9563	9	0.27082	T	0.32	.	7.5168	0.27606	0.0744:0.3781:0.3935:0.154	rs3792234;rs52821443;rs57146593;rs3792234	607;607;607	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	H	607	ENSP00000385273:Q607H;ENSP00000384615:Q607H;ENSP00000310969:Q607H;ENSP00000385499:Q607H;ENSP00000385701:Q607H;ENSP00000378236:Q607H;ENSP00000311493:Q607H;ENSP00000378234:Q607H	ENSP00000310969:Q607H	Q	+	3	2	STON1-GTF2A1L;STON1	48663097	0.000000	0.05858	0.016000	0.15963	0.149000	0.21700	-2.081000	0.01367	-3.411000	0.00168	-3.194000	0.00055	CAG	G|0.570;T|0.430		0.498	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		T	48809593	G	T	48809593	3	4	16	1	0	0	0	0	1	0	0	0	15363	991	35	3	1823	3	STON1	2	48809593	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	3637751	48809593	194389780	14	3284											
ASTL	431705	bcgsc.ca	37	chr2	96795857	96795857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcagcatgttgctgctcTgagacttgatgaagttgatt	12	7	2	4	rs749458	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:96795857T>C	ENST00000342380.2	-	7	664	c.665A>G	c.(664-666)cAg>cGg	p.Q222R		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GTTGCTGCTCTGAGACTTGAT	0.488													C|||	4643	0.927117	0.9924	0.8732	5008	,	,		22115	1		0.7684	False		,,,				2504	0.9652				p.Q222R		.											.	ASTL-90	0			c.A665G						.	C	ARG/GLN	4222,184	116.7+/-154.6	2020,182,1	124	127	126		665	-1.9	0.9	2	dbSNP_86	126	6840,1760	320.5+/-314.7	2723,1394,183	yes	missense	ASTL	NM_001002036.3	43	4743,1576,184	CC,CT,TT		20.4651,4.1761,14.9469	benign	222/432	96795857	11062,1944	2203	4300	6503	SO:0001583	missense	431705	exon7			CTGCTCTGAGACT	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.665A>G	2.37:g.96795857T>C	ENSP00000343674:p.Gln222Arg	Somatic	224	3		WXS	Illumina GAIIx	Phase_I	153	6	NM_001002036	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	1950	0.8928571428571429	486	0.9878048780487805	303	0.8370165745856354	572	1.0	589	0.7770448548812665	C	0.507	-0.868078	0.02590	0.958239	0.795349	ENSG00000188886	ENST00000342380	T	0.62498	0.02	4.14	-1.91	0.07641	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.873151	0.09681	N	0.769810	T	0.00012	0.0000	N	0.04805	-0.155	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41233	-0.9520	9	0.05721	T	0.95	-2.6861	1.3369	0.02147	0.1372:0.1828:0.2703:0.4097	rs749458;rs1724123;rs56560104;rs58650142;rs749458	222	Q6HA08	ASTL_HUMAN	R	222	ENSP00000343674:Q222R	ENSP00000343674:Q222R	Q	-	2	0	ASTL	96159584	0.001000	0.12720	0.931000	0.37212	0.971000	0.66376	-0.603000	0.05674	-0.522000	0.06417	-0.222000	0.12452	CAG	T|0.132;C|0.868		0.488	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			C	96795857	T	C	96795857	3	2	16	1	0	0	0	0	1	0	0	0	1064	1580	55	4	641	4	ASTL	2	96795857	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	47986264	96795857	146403516	15	3285											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	16	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	13576335	110372192	132827181	16	3286											
UGGT1	56886	bcgsc.ca	37	chr2	128934400	128934400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaagccacgatggcacTgattctccccctgatgctga	9	14	1	3	rs2290111	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:128934400T>C	ENST00000259253.6	+	32	3599	c.3552T>C	c.(3550-3552)acT>acC	p.T1184T	UGGT1_ENST00000375990.3_Silent_p.T1160T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1184					'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						ACGATGGCACTGATTCTCCCC	0.418													C|||	3327	0.664337	0.9622	0.5418	5008	,	,		22234	0.4127		0.5855	False		,,,				2504	0.6892				p.T1184T		.											.	UGGT1-91	0			c.T3552C						.	C		3992,414	204.1+/-226.4	1809,374,20	184	175	178		3552	0.2	0.9	2	dbSNP_100	178	5104,3496	511.4+/-377.7	1512,2080,708	no	coding-synonymous	UGGT1	NM_020120.3		3321,2454,728	CC,CT,TT		40.6512,9.3963,30.063		1184/1556	128934400	9096,3910	2203	4300	6503	SO:0001819	synonymous_variant	56886	exon32			TGGCACTGATTCT	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.3552T>C	2.37:g.128934400T>C		Somatic	211	2		WXS	Illumina GAIIx	Phase_I	154	7	NM_020120	0	0	0	0	0	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																			T|0.323;C|0.677		0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		C	128934400	T	C	128934400	2	2	16	1	0	0	0	0	0	0	0	1	16990	1567	55	4		4	UGGT1	2	128934400	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	18562208	128934400	114264973	17	3287											
NCKAP5	344148	ucsc.edu;bcgsc.ca	37	chr2	133541575	133541575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggccagcagggagaCggacctgcctggagggggcg	21	11	0	1	rs12611515	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:133541575C>T	ENST00000409261.1	-	14	3182	c.2809G>A	c.(2809-2811)Gtc>Atc	p.V937I	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V937I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	937			V -> I (in dbSNP:rs12611515).							NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCAGGGAGACGGACCTGCCT	0.617													c|||	1867	0.372804	0.4554	0.3141	5008	,	,		15512	0.497		0.2952	False		,,,				2504	0.2546				p.V937I		.											.	.	0			c.G2809A						.	C	ILE/VAL,	1698,2154		418,862,646	16	18	18		2809,	3.4	0.9	2	dbSNP_120	18	2375,5867		371,1633,2117	yes	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	29,	789,2495,2763	TT,TC,CC		28.8158,44.081,33.6779	possibly-damaging,	937/1910,	133541575	4073,8021	1926	4121	6047	SO:0001583	missense	344148	exon14			GGGAGACGGACCT	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2809G>A	2.37:g.133541575C>T	ENSP00000387128:p.Val937Ile	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	32	4	NM_207363	0	0	0	0	0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	844	0.38644688644688646	218	0.44308943089430897	118	0.3259668508287293	296	0.5174825174825175	212	0.2796833773087071	c	3.753	-0.051168	0.07407	0.44081	0.288158	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10960	2.82;2.82	5.18	3.36	0.38483	.	0.794876	0.10109	U	0.714992	T	0.00012	0.0000	L	0.27053	0.805	0.09310	P	0.9999999999528724	B	0.10296	0.003	B	0.08055	0.003	T	0.42103	-0.9471	9	0.32370	T	0.25	.	3.5614	0.07884	0.2085:0.5653:0.0:0.2261	rs12611515;rs52798675;rs57514357;rs12611515	937	O14513	NCKP5_HUMAN	I	937	ENSP00000387128:V937I;ENSP00000380603:V937I	ENSP00000380603:V937I	V	-	1	0	NCKAP5	133258045	1.000000	0.71417	0.934000	0.37439	0.077000	0.17291	2.178000	0.42519	0.753000	0.32945	-0.148000	0.13756	GTC	C|0.618;T|0.382		0.617	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133541575	C	T	133541575	3	4	16	1	0	0	0	0	1	0	0	0	10262	536	19	1	2948	1	NCKAP5	2	133541575	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	4607175	133541575	109657798	18	3288											
NEB	4703	bcgsc.ca	37	chr2	152499355	152499355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgtggacagtggttttaTctttatcccaagcttctgta	8	7	2	0	rs76767949	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:152499355T>C	ENST00000172853.10	-	59	8336	c.8189A>G	c.(8188-8190)gAt>gGt	p.D2730G	NEB_ENST00000604864.1_Missense_Mutation_p.D2730G|NEB_ENST00000409198.1_Missense_Mutation_p.D2730G|NEB_ENST00000427231.2_Missense_Mutation_p.D2730G|NEB_ENST00000397345.3_Missense_Mutation_p.D2730G|NEB_ENST00000603639.1_Missense_Mutation_p.D2730G			P20929	NEBU_HUMAN	nebulin	2730					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.D2730G(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)		AGTGGTTTTATCTTTATCCCA	0.353													T|||	101	0.0201677	0	0.0187	5008	,	,		18527	0.0813		0.001	False		,,,				2504	0.0051				p.D2730G		.											.	NEB-145	1	Substitution - Missense(1)	stomach(1)	c.A8189G						.	T	GLY/ASP,GLY/ASP,GLY/ASP	1,3657		0,1,1828	50	48	49		8189,8189,8189	6	1	2	dbSNP_132	49	4,8156		0,4,4076	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	94,94,94	0,5,5904	CC,CT,TT		0.049,0.0273,0.0423	probably-damaging,probably-damaging,probably-damaging	2730/8526,2730/8526,2730/6670	152499355	5,11813	1829	4080	5909	SO:0001583	missense	4703	exon59			GTTTTATCTTTAT	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.8189A>G	2.37:g.152499355T>C	ENSP00000172853:p.Asp2730Gly	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	68	5	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		52	0.023809523809523808	0	0.0	4	0.011049723756906077	47	0.08216783216783216	1	0.0013192612137203166	T	23.9	4.476210	0.84640	2.73E-4	4.9E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.97	5.97	0.96955	.	0.114166	0.56097	D	0.000022	T	0.13372	0.0324	M	0.89478	3.035	0.80722	D	1	D	0.55800	0.973	D	0.65140	0.932	T	0.53121	-0.8483	10	0.36615	T	0.2	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	2730	P20929	NEBU_HUMAN	G	2730	ENSP00000386259:D2730G;ENSP00000380505:D2730G;ENSP00000416578:D2730G;ENSP00000172853:D2730G	ENSP00000172853:D2730G	D	-	2	0	NEB	152207601	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.987000	0.63857	2.288000	0.76882	0.533000	0.62120	GAT	T|0.974;C|0.026		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152499355	T	C	152499355	3	2	16	1	0	0	0	0	1	0	0	0	10341	1435	50	4	17993	4	NEB	2	152499355	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	18957780	152499355	90700018	19	3289											
PGAP1	80055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197707448	197707448	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agattaaactactgtaccttGattttattgaaacagtgtaa	6	5	0	3			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:197707448G>C	ENST00000354764.4	-	26	2741	c.2627C>G	c.(2626-2628)tCa>tGa	p.S876*		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	876					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTGTACCTTGATTTTATTGA	0.269																																					p.S876X		.											.	PGAP1-93	0			c.C2627G						.						61	70	67					2																	197707448		2203	4290	6493	SO:0001587	stop_gained	80055	exon26			TACCTTGATTTTA		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2627C>G	2.37:g.197707448G>C	ENSP00000346809:p.Ser876*	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	152	99	NM_024989	0	0	0	0	0	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	41	8.862563	0.98982	.	.	ENSG00000197121	ENST00000354764	.	.	.	5.14	5.14	0.70334	.	0.259485	0.33290	N	0.005077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.7876	0.91961	0.0:0.0:1.0:0.0	.	.	.	.	X	876	.	ENSP00000346809:S876X	S	-	2	0	PGAP1	197415693	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.596000	0.61055	2.673000	0.90976	0.591000	0.81541	TCA	.		0.269	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197707448	G	C	197707448	4	2	16	1	0	0	0	0	0	1	0	0	11816	1294	45	3	149	3	PGAP1	2	197707448	Nonsense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	45208093	197707448	45491925	20	3290											
ALPPL2	251	hgsc.bcm.edu	37	chr2	233274476	233274476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgacctggcgccccGcgccggcaccaccgacgccg	13	22	0	0	rs114768772		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr2:233274476G>C	ENST00000295453.3	+	11	1545	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	498				R -> P (in Ref. 1; AAA98616 and 4; CAA39425). {ECO:0000305}.|R -> S (in Ref. 3; CAA37374). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTGGCGCCCCGCGCCGGCACC	0.726																																					p.R498P		.											.	ALPPL2-91	0			c.G1493C						.						12	16	15					2																	233274476		2172	4236	6408	SO:0001583	missense	251	exon11			CGCCCCGCGCCGG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1493G>C	2.37:g.233274476G>C	ENSP00000295453:p.Arg498Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	21	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	194	0.08882783882783883	42	0.08536585365853659	21	0.058011049723756904	71	0.12412587412587413	60	0.079155672823219	a	0.009	-1.842776	0.00568	.	.	ENSG00000163286	ENST00000295453	D	0.95622	-3.76	2.39	1.49	0.22878	Alkaline-phosphatase-like, core domain (1);	0.504996	0.18426	N	0.141584	T	0.05640	0.0148	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55425	-0.8143	10	0.02654	T	1	.	6.1524	0.20318	0.3771:0.4391:0.1839:0.0	.	498	P10696	PPBN_HUMAN	P	498	ENSP00000295453:R498P	ENSP00000295453:R498P	R	+	2	0	ALPPL2	232982720	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.066000	0.11598	-0.037000	0.13646	-2.747000	0.00125	CGC	G|0.946;C|0.054		0.726	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		C	233274476	G	C	233274476	3	2	16	1	0	0	0	0	1	0	0	0	549	1087	38	2	1535	2	ALPPL2	2	233274476	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	35567028	233274476	9924897	21	3291											
C3orf17	25871	ucsc.edu	37	chr3	112730187	112730187	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaatcctagcgacctcTtgaagcaatccaaacaaagg	9	10	1	2			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr3:112730187T>C	ENST00000314400.5	-	6	809	c.618A>G	c.(616-618)caA>caG	p.Q206Q	C3orf17_ENST00000383675.2_Silent_p.Q136Q|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Silent_p.Q70Q	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	206					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						TAGCGACCTCTTGAAGCAATC	0.353																																					p.Q206Q		.											.	C3orf17-90	0			c.A618G						.						82	91	88					3																	112730187		2197	4296	6493	SO:0001819	synonymous_variant	25871	exon6			GACCTCTTGAAGC	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.618A>G	3.37:g.112730187T>C		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	28	4	NM_015412	0	0	3	3	0	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	CCDS33824.1																																																																																			.		0.353	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		C	112730187	T	C	112730187	2	2	16	1	0	0	0	0	0	0	0	1	2217	1606	56	4		4	C3orf17	3	112730187	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10		112730187	85292243	22	3292											
SGEF	26084	bcgsc.ca	37	chr3	153839959	153839960	+	Missense_Mutation	DNP	CT	CT	TC													tggaggacggagggacgctcCtcgcagcgcagattcccgcc					rs386667246|rs12497267|rs59508481	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr3:153839959_153839960CT>TC	ENST00000356448.4	+	2	462_463	c.178_179CT>TC	c.(178-180)CTc>TCc	p.L60S	ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.L60S|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.L60S|ARHGEF26-AS1_ENST00000480639.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	60			L -> P (in dbSNP:rs12497267). {ECO:0000269|PubMed:15221005}.	L -> S (in Ref. 1; AAL27001, 2; AAS59842, 3; BAG53860 and 6; AAH78655). {ECO:0000305}.	endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGGGACGCTCCTCGCAGCGCAG	0.668																																					p.L60S	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	.											.	ARHGEF26-47	0			c.T179C						.																																			SO:0001583	missense	26084	exon2			CGCTCCTCGCAGC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	Exception_encountered	3.37:g.153839959_153839960delinsTC	ENSP00000348828:p.Leu60Ser	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	194	0	NM_001251962	0	0	0	0	0	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	DNP	ENST00000356448.4	37	CCDS46938.1																																																																																			T|0.139;C|0.861		0.668	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		TC	153839960	CT	TC	153839959	3	4	16	1	0	0	0	0	1	0	0	0	14250	681	24	3	180	3	SGEF	3	153839959	Missense_Mutation	DNP	CT	TCGA-OR-A5JK-01A-11D-A29I-10	41109772	153839959	44182471	23	3293											
EVC	2121	bcgsc.ca	37	chr4	5795412	5795412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgagggcaccatccgcggCgtcttgggccgactgggcgg	17	14	1	0	rs11737221	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:5795412C>T	ENST00000264956.6	+	13	2038	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.G618G	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	618					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCATCCGCGGCGTCTTGGGCC	0.642													C|||	1672	0.333866	0.0681	0.2896	5008	,	,		14377	0.5278		0.3091	False		,,,				2504	0.5501				p.G618G		.											.	EVC-92	0			c.C1854T						.	C		409,3917		26,357,1780	19	19	19		1854	-8.3	0	4	dbSNP_120	19	2408,5964		361,1686,2139	no	coding-synonymous	EVC	NM_153717.2		387,2043,3919	TT,TC,CC		28.7625,9.4545,22.1846		618/993	5795412	2817,9881	2163	4186	6349	SO:0001819	synonymous_variant	2121	exon13			CCGCGGCGTCTTG	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1854C>T	4.37:g.5795412C>T		Somatic	134	1		WXS	Illumina GAIIx	Phase_I	167	9	NM_153717	0	0	0	0	0		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																			C|0.742;T|0.258		0.642	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			T	5795412	C	T	5795412	2	4	16	1	0	0	0	0	0	0	0	1	5301	755	27	1		1	EVC	4	5795412	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		5795412	185358864	24	3294											
RBM47	54502	hgsc.bcm.edu	37	chr4	40440854	40440854	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgccctcgggcaccttggcGgaggacccggcggccgagtc	16	16	0	0	rs1052153	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000514014.1_Intron|RBM47_ENST00000319592.4_Silent_p.S19S|RBM47_ENST00000295971.7_Silent_p.S19S|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					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						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8	9	9		57,57	-7.6	0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	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.57C>G	4.37:g.40440854G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_001098634	0	0	1	1	0	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440854	G	C	40440854	2	2	16	1	0	0	0	0	0	0	0	1	13186	1103	39	2		2	RBM47	4	40440854	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	34645442	40440854	150713422	25	3295											
AREG	374	broad.mit.edu;bcgsc.ca	37	chr4	75482066	75482066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaagcgtgaaccattttCtggggaccacagtgctgatg	14	8	1	2			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:75482066C>T	ENST00000380846.3	+	2	332	c.122C>T	c.(121-123)tCt>tTt	p.S41F	AC142293.3_ENST00000510419.1_RNA			P15514	AREG_HUMAN		41					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			kidney(1)	1						GAACCATTTTCTGGGGACCAC	0.473																																					p.S41F		.											.	AREG-946	0			c.C122T						.						68	49	55					4																	75482066		1561	3330	4891	SO:0001583	missense	374	exon2			CATTTTCTGGGGA																												ENST00000380846.3:c.122C>T	4.37:g.75482066C>T	ENSP00000370227:p.Ser41Phe	Somatic	823	0		WXS	Illumina GAIIx	Phase_I	976	90	NM_001657	0	0	0	0	0	Q5U026	Missense_Mutation	SNP	ENST00000380846.3	37		.	.	.	.	.	.	.	.	.	.	C	17.75	3.466971	0.63625	.	.	ENSG00000205595	ENST00000380846	T	0.20463	2.07	3.42	3.42	0.39159	.	0.340814	0.31472	N	0.007586	T	0.36138	0.0956	.	.	.	0.35822	D	0.824651	.	.	.	.	.	.	T	0.53136	-0.8481	7	0.87932	D	0	-4.5906	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	F	41	ENSP00000370227:S41F	ENSP00000370227:S41F	S	+	2	0	AREGB	75701090	0.208000	0.23494	0.757000	0.31301	0.908000	0.53690	3.857000	0.55972	1.738000	0.51689	0.423000	0.28283	TCT	.		0.473	AREGB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362747.1			T	75482066	C	T	75482066	3	4	16	1	0	0	0	0	1	0	0	0	843	913	32	3	907	3	AREG	4	75482066	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	35041212	75482066	115672210	26	3296											
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77662248	77662248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggagccccgaggcgtcGgcctccgcctccccgcacac	12	21	0	0	rs344142	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:77662248G>A	ENST00000296043.6	+	5	3875	c.2922G>A	c.(2920-2922)tcG>tcA	p.S974S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	974	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			CCGAGGCGTCGGCCTCCGCCT	0.776													G|||	2165	0.432308	0.4054	0.4827	5008	,	,		9965	0.2669		0.6044	False		,,,				2504	0.4264				p.S974S		.											.	SHROOM3-93	0			c.G2922A						.	G		1740,1410		550,640,385	2	3	3		2922	0.4	0	4	dbSNP_129	3	4503,2047		1663,1177,435	no	coding-synonymous	SHROOM3	NM_020859.3		2213,1817,820	AA,AG,GG		31.2519,44.7619,35.6392		974/1997	77662248	6243,3457	1575	3275	4850	SO:0001819	synonymous_variant	57619	exon5			GGCGTCGGCCTCC	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.2922G>A	4.37:g.77662248G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																			G|0.531;A|0.469		0.776	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77662248	G	A	77662248	2	1	16	1	0	0	0	0	0	0	0	1	14340	1103	39	1		1	SHROOM3	4	77662248	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	2180182	77662248	113492028	27	3297											
TKTL2	84076	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	164394479	164394479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtacttgccagtataagcCattccacatgcagtacctaa	7	11	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:164394479C>T	ENST00000280605.3	-	1	568	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	136						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTATAAGCCATTCCACATG	0.537																																					p.M136I		.											.	TKTL2-95	0			c.G408A						.						115	112	113					4																	164394479		2203	4300	6503	SO:0001583	missense	84076	exon1			ATAAGCCATTCCA	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.408G>A	4.37:g.164394479C>T	ENSP00000280605:p.Met136Ile	Somatic	109	2		WXS	Illumina GAIIx	Phase_I	155	56	NM_032136	0	0	0	0	0	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399756	0.62177	.	.	ENSG00000151005	ENST00000280605	T	0.25085	1.82	3.71	3.71	0.42584	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43782	-0.9370	10	0.40728	T	0.16	-25.0496	13.8036	0.63216	0.0:1.0:0.0:0.0	.	136	Q9H0I9	TKTL2_HUMAN	I	136	ENSP00000280605:M136I	ENSP00000280605:M136I	M	-	3	0	TKTL2	164613929	1.000000	0.71417	0.962000	0.40283	0.810000	0.45777	7.256000	0.78350	2.359000	0.80004	0.561000	0.74099	ATG	.		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		T	164394479	C	T	164394479	3	4	16	1	0	0	0	0	1	0	0	0	15983	594	21	3	1476	3	TKTL2	4	164394479	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	86732231	164394479	26759797	28	3298											
ODZ3	55714	broad.mit.edu;bcgsc.ca	37	chr4	183651430	183651430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatgtctcgtttttccAttacccagaatatggatata	6	7	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr4:183651430A>G	ENST00000511685.1	+	15	2786	c.2663A>G	c.(2662-2664)cAt>cGt	p.H888R	TENM3_ENST00000406950.2_Missense_Mutation_p.H888R|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	888					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)										TCGTTTTTCCATTACCCAGAA	0.413																																					p.H888R		.											.	.	0			c.A2663G						.						135	126	129					4																	183651430		1870	4103	5973	SO:0001583	missense	55714	exon14			TTTTCCATTACCC	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.2663A>G	4.37:g.183651430A>G	ENSP00000424226:p.His888Arg	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	183	8	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503866	0.26949	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.13420	2.59;2.59	4.92	3.73	0.42828	Carboxypeptidase-like, regulatory domain (1);	.	.	.	.	T	0.08846	0.0219	L	0.31804	0.96	0.46849	D	0.999228	B	0.02656	0.0	B	0.04013	0.001	T	0.10474	-1.0628	9	0.07325	T	0.83	.	10.7281	0.46081	0.9251:0.0:0.0749:0.0	.	888	Q9P273	TEN3_HUMAN	R	888	ENSP00000424226:H888R;ENSP00000385276:H888R	ENSP00000385276:H888R	H	+	2	0	ODZ3	183888424	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.139000	0.71728	0.897000	0.36392	-0.254000	0.11334	CAT	.		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			G	183651430	A	G	183651430	3	3	16	1	0	0	0	0	1	0	0	0	10875	217	8	4	2717	4	ODZ3	4	183651430	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	19256951	183651430	7502846	29	3299											
TRIP13	9319	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	912038	912038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacagggctgacatcaAgcagtacattgggccaccct	12	12	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:912038A>G	ENST00000166345.3	+	10	1303	c.947A>G	c.(946-948)aAg>aGg	p.K316R		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	316					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)			GCTGACATCAAGCAGTACATT	0.463																																					p.K316R		.											.	TRIP13-90	0			c.A947G						.						190	154	166					5																	912038		2203	4300	6503	SO:0001583	missense	9319	exon10			ACATCAAGCAGTA	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.947A>G	5.37:g.912038A>G	ENSP00000166345:p.Lys316Arg	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	210	70	NM_004237	0	0	2	2	0	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.871444	0.51695	.	.	ENSG00000071539	ENST00000166345	D	0.94793	-3.52	5.78	4.71	0.59529	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.043242	0.85682	N	0.000000	D	0.89364	0.6694	L	0.38692	1.165	0.58432	D	0.99999	B	0.22604	0.072	B	0.26310	0.068	T	0.82729	-0.0313	10	0.23302	T	0.38	-28.6123	6.9083	0.24321	0.8748:0.0:0.1252:0.0	.	316	Q15645	PCH2_HUMAN	R	316	ENSP00000166345:K316R	ENSP00000166345:K316R	K	+	2	0	TRIP13	965038	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.637000	0.67854	1.150000	0.42419	0.533000	0.62120	AAG	.		0.463	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		G	912038	A	G	912038	3	3	16	1	0	0	0	0	1	0	0	0	16605	72	3	4	989	4	TRIP13	5	912038	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10		912038	180003222	30	3300											
PAPD7	11044	bcgsc.ca	37	chr5	6746484	6746484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggagatcatgaaagCcatgaccagcgggtacagac	12	9	1	5			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:6746484C>A	ENST00000230859.6	+	7	782	c.653C>A	c.(652-654)gCc>gAc	p.A218D		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	448					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCATGAAAGCCATGACCAGC	0.498																																					p.A218D	NSCLC(7;212 333 5667 23379 46547)	.											.	PAPD7-69	0			c.C653A						.						96	101	100					5																	6746484		2203	4300	6503	SO:0001583	missense	11044	exon7			TGAAAGCCATGAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.653C>A	5.37:g.6746484C>A	ENSP00000230859:p.Ala218Asp	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_001171805	0	0	0	0	0	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668073	0.29604	.	.	ENSG00000112941	ENST00000230859	T	0.76578	-1.03	5.27	5.27	0.74061	PAP/25A-associated (1);	0.158596	0.56097	D	0.000029	T	0.44746	0.1308	N	0.01168	-0.975	0.43222	D	0.995105	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.012	T	0.49716	-0.8910	10	0.11794	T	0.64	-4.0299	5.6759	0.17747	0.1913:0.6902:0.0:0.1184	.	218;218	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	D	218	ENSP00000230859:A218D	ENSP00000230859:A218D	A	+	2	0	PAPD7	6799484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.232000	0.32636	2.618000	0.88619	0.561000	0.74099	GCC	.		0.498	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		A	6746484	C	A	6746484	3	1	16	1	0	0	0	0	1	0	0	0	11465	739	26	3	675	3	PAPD7	5	6746484	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	5834446	6746484	174168776	31	3301											
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	65105961	65105961	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgaatatgccaaatactgCtcagaaatattaggagttgc	9	6	1	2			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:65105961C>G	ENST00000380985.5	+	11	1990	c.1812C>G	c.(1810-1812)tgC>tgG	p.C604W	NLN_ENST00000502464.1_Missense_Mutation_p.C500W	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	604						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCAAATACTGCTCAGAAATAT	0.448																																					p.C604W		.											.	NLN-90	0			c.C1812G						.						96	92	93					5																	65105961		2203	4300	6503	SO:0001583	missense	57486	exon11			ATACTGCTCAGAA	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1812C>G	5.37:g.65105961C>G	ENSP00000370372:p.Cys604Trp	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	109	18	NM_020726	0	0	0	0	0	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.62|16.62|16.62	3.174478|3.174478|3.174478	0.57692|0.57692|0.57692	.|.|.	.|.|.	ENSG00000123213|ENSG00000123213|ENSG00000123213	ENST00000340159|ENST00000380985;ENST00000502464;ENST00000511299|ENST00000509935	.|T;T;T|.	.|0.07444|.	.|3.19;3.19;3.19|.	5.9|5.9|5.9	4.85|4.85|4.85	0.62838|0.62838|0.62838	.|Neurolysin/Thimet oligopeptidase, domain 2 (1);|.	.|0.204017|.	.|0.56097|.	.|D|.	.|0.000023|.	T|T|T	0.40347|0.40347|0.40347	0.1113|0.1113|0.1113	N|N|N	0.20986|0.20986|0.20986	0.625|0.625|0.625	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.81914|.	.|0.993;0.995|.	T|T|T	0.17471|0.17471|0.17471	-1.0368|-1.0368|-1.0368	6|10|5	0.19147|0.72032|.	T|D|.	0.46|0.01|.	-12.6986|-12.6986|-12.6986	6.0723|6.0723|6.0723	0.19895|0.19895|0.19895	0.0:0.6618:0.2012:0.137|0.0:0.6618:0.2012:0.137|0.0:0.6618:0.2012:0.137	.|.|.	.|281;604|.	.|Q96K48;Q9BYT8|.	.|.;NEUL_HUMAN|.	G|W|V	604|604;500;314|201	.|ENSP00000370372:C604W;ENSP00000423214:C500W;ENSP00000427417:C314W|.	ENSP00000339283:A604G|ENSP00000370372:C604W|.	A|C|L	+|+|+	2|3|1	0|2|0	NLN|NLN|NLN	65141717|65141717|65141717	0.992000|0.992000|0.992000	0.36948|0.36948|0.36948	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	2.273000|2.273000|2.273000	0.43381|0.43381|0.43381	2.799000|2.799000|2.799000	0.96334|0.96334|0.96334	0.643000|0.643000|0.643000	0.83706|0.83706|0.83706	GCT|TGC|CTC	.		0.448	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			G	65105961	C	G	65105961	3	3	16	1	0	0	0	0	1	0	0	0	10506	805	28	3	1854	3	NLN	5	65105961	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	58359477	65105961	115809299	32	3302											
RAD17	5884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	68684968	68684968	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcctccagttttcttcttcAaaaggtaactatggaagata	7	8	3	1	rs140360093		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:68684968A>T	ENST00000509734.1	+	11	1713	c.1035A>T	c.(1033-1035)tcA>tcT	p.S345S	RAD17_ENST00000282891.6_Silent_p.S248S|RAD17_ENST00000521422.1_Silent_p.S169S|RAD17_ENST00000354868.5_Silent_p.S334S|RAD17_ENST00000361732.2_Silent_p.S334S|RAD17_ENST00000345306.6_Silent_p.S334S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Silent_p.S334S|RAD17_ENST00000358030.2_Silent_p.S169S|RAD17_ENST00000354312.3_Silent_p.S334S|RAD17_ENST00000380774.3_Silent_p.S345S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	345					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)		TTTCTTCTTCAAAAGGTAACT	0.358								Other conserved DNA damage response genes																													p.S345S		.											.	RAD17-205	0			c.A1035T						.	A	,,,,,,,	0,4406		0,0,2203	91	95	93		1002,1002,1035,507,744,1002,1002,1002	-2.9	1	5	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAD17	NM_002873.1,NM_133338.1,NM_133339.1,NM_133340.1,NM_133341.1,NM_133342.1,NM_133343.1,NM_133344.1	,,,,,,,	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	,,,,,,,	334/671,334/671,345/682,169/506,248/585,334/671,334/671,334/671	68684968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5884	exon9			TTCTTCAAAAGGT	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.1035A>T	5.37:g.68684968A>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	49	8	NM_133339	0	0	0	0	0	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	CCDS4003.1																																																																																			A|1.000;T|0.000		0.358	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		T	68684968	A	T	68684968	2	4	16	1	0	0	0	0	0	0	0	1	13024	117	5	5		5	RAD17	5	68684968	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	3579007	68684968	112230292	33	3303											
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79029380	79029380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaaaccggcagtggagGtatcttctacagctcaggga	12	9	3	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:79029380G>A	ENST00000446378.2	+	2	4823	c.4792G>A	c.(4792-4794)Gta>Ata	p.V1598I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1598					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCAGTGGAGGTATCTTCTAC	0.458																																					p.V1598I		.											.	CMYA5-77	0			c.G4792A						.						122	122	122					5																	79029380		1881	4119	6000	SO:0001583	missense	202333	exon2			GTGGAGGTATCTT	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4792G>A	5.37:g.79029380G>A	ENSP00000394770:p.Val1598Ile	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	140	37	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	7.624	0.677493	0.14841	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.07	-6.27	0.02026	.	1.038790	0.07606	N	0.924530	T	0.02156	0.0067	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48305	-0.9047	10	0.18710	T	0.47	.	0.277	0.00239	0.2582:0.266:0.2346:0.2411	.	1598	Q8N3K9	CMYA5_HUMAN	I	1598	ENSP00000394770:V1598I	ENSP00000394770:V1598I	V	+	1	0	CMYA5	79065136	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.001000	0.13038	-0.882000	0.03987	-0.878000	0.02970	GTA	.		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79029380	G	A	79029380	3	1	16	1	0	0	0	0	1	0	0	0	3597	1261	44	3	4798	3	CMYA5	5	79029380	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	10344412	79029380	101885880	34	3304											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0				p.A526A		.											.	PCDHB7-95	1	Substitution - coding silent(1)	lung(1)	c.G1578T						.						62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	381	17	NM_018940	0	0	9	9	0	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																			.		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553994	G	T	140553994	2	4	16	1	0	0	0	0	0	0	0	1	11586	1132	40	2		2	PCDHB7	5	140553994	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	61524614	140553994	40361266	35	3305											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	16	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	35238611	175792605	5122655	36	3306											
SLC35B3	51000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	8417697	8417697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatcccagtaaaatgtAtacaaaaccaattgaatacg	5	8	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr6:8417697A>G	ENST00000379660.4	-	8	1260	c.811T>C	c.(811-813)Tac>Cac	p.Y271H		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	271					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AGTAAAATGTATACAAAACCA	0.308																																					p.Y271H	Melanoma(83;700 1353 9357 11478 30548)	.											.	SLC35B3-90	0			c.T811C						.						75	71	72					6																	8417697		2203	4296	6499	SO:0001583	missense	51000	exon8			AAATGTATACAAA	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.811T>C	6.37:g.8417697A>G	ENSP00000368981:p.Tyr271His	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	162	87	NM_001142540	0	0	0	5	5	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.505811	0.64410	.	.	ENSG00000124786	ENST00000379660	T	0.32023	1.47	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.62253	-0.6893	9	.	.	.	-11.1728	15.9054	0.79423	1.0:0.0:0.0:0.0	.	271;271	Q9H1N7;B2R8V5	S35B3_HUMAN;.	H	271	ENSP00000368981:Y271H	.	Y	-	1	0	SLC35B3	8362696	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	7.377000	0.79668	2.157000	0.67596	0.533000	0.62120	TAC	.		0.308	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		G	8417697	A	G	8417697	3	3	16	1	0	0	0	0	1	0	0	0	14622	449	16	4	410	4	SLC35B3	6	8417697	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10		8417697	162697370	37	3307											
MLN	4295	bcgsc.ca	37	chr6	33768897	33768897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccagcatggcagctAcatgcaccaccagcagagca	13	13	0	1	rs2281820	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr6:33768897A>G	ENST00000430124.2	-	2	109	c.44T>C	c.(43-45)gTa>gCa	p.V15A	MLN_ENST00000507738.1_Missense_Mutation_p.V15A|MLN_ENST00000266003.5_Missense_Mutation_p.V15A	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	15			V -> A (in dbSNP:rs2281820). {ECO:0000269|PubMed:15489334}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						CATGGCAGCTACATGCACCAC	0.577													G|||	3163	0.631589	0.4932	0.5216	5008	,	,		20036	0.8562		0.5368	False		,,,				2504	0.7628				p.V15A		.											.	MLN-90	0			c.T44C						.	G	ALA/VAL,ALA/VAL,ALA/VAL	2229,2177	585.3+/-386.2	560,1109,534	98	86	90		44,44,44	-1.1	0	6	dbSNP_100	90	4994,3606	520.8+/-379.8	1460,2074,766	yes	missense,missense,missense	MLN	NM_001040109.1,NM_001184698.1,NM_002418.2	64,64,64	2020,3183,1300	GG,GA,AA		41.9302,49.4099,44.4641	benign,benign,benign	15/115,15/109,15/116	33768897	7223,5783	2203	4300	6503	SO:0001583	missense	4295	exon2			GCAGCTACATGCA		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"Endogenous ligands"	7141	protein-coding gene	gene with protein product	"prepromotilin"	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.44T>C	6.37:g.33768897A>G	ENSP00000388825:p.Val15Ala	Somatic	313	5		WXS	Illumina GAIIx	Phase_I	213	9	NM_002418	0	0	0	0	0	B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	CCDS4786.1	1328	0.608058608058608	256	0.5203252032520326	185	0.511049723756906	475	0.8304195804195804	412	0.5435356200527705	G	0.628	-0.818365	0.02776	0.505901	0.580698	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.51325	0.71;0.71;0.71	5.43	-1.12	0.09808	.	1.272520	0.05417	N	0.543508	T	0.11067	0.0270	L	0.28115	0.83	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12682	-1.0538	9	0.10636	T	0.68	0.251	7.2176	0.25969	0.4771:0.12:0.4029:0.0	rs2281820;rs52813189;rs61381966;rs2281820	15;15	E9PDN2;P12872	.;MOTI_HUMAN	A	15	ENSP00000388825:V15A;ENSP00000266003:V15A;ENSP00000425467:V15A	ENSP00000266003:V15A	V	-	2	0	MLN	33876875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.753000	0.04792	-0.651000	0.05415	-0.812000	0.03155	GTA	A|0.403;G|0.597		0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			G	33768897	A	G	33768897	3	3	16	1	0	0	0	0	1	0	0	0	9669	391	14	4	319	4	MLN	6	33768897	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	25351200	33768897	137346170	38	3308											
KCNQ5	56479	hgsc.bcm.edu	37	chr6	73332040	73332040	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgaaggatgtggagtcCggccggggcagggtgctgct	20	8	0	1	rs3734212	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000414165.2_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S|KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000403813.2_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					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)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2	3	3		123,123,123,123,123	-2.2	1	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	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.123C>G	6.37:g.73332040C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		G	73332040	C	G	73332040	2	3	16	1	0	0	0	0	0	0	0	1	8113	639	23	2		2	KCNQ5	6	73332040	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	39563143	73332040	97783027	39	3309											
RPS6KA2	6196	ucsc.edu	37	chr6	166826304	166826304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgctgagccaggttggaTgacagcacgggctccagccg	15	13	0	2	rs760670	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr6:166826304T>C	ENST00000265678.4	-	21	2371	c.2148A>G	c.(2146-2148)tcA>tcG	p.S716S	RPS6KA2_ENST00000510118.1_Silent_p.S741S|RPS6KA2_ENST00000481261.2_Silent_p.S627S|RPS6KA2_ENST00000503859.1_Silent_p.S724S|RPS6KA2_ENST00000405189.3_Silent_p.S627S|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	716					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)		CCAGGTTGGATGACAGCACGG	0.647													C|||	3984	0.795527	0.8646	0.7507	5008	,	,		15129	0.7887		0.6789	False		,,,				2504	0.8609				p.S724S		.											.	RPS6KA2-1405	0			c.A2172G						.	C	,	3650,744		1516,618,63	32	31	31		2172,2148	-7.3	0.7	6	dbSNP_86	31	5979,2615		2083,1813,401	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	3599,2431,464	CC,CT,TT		30.4282,16.9322,25.8623	,	724/742,716/734	166826304	9629,3359	2197	4297	6494	SO:0001819	synonymous_variant	6196	exon22			GTTGGATGACAGC	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.2148A>G	6.37:g.166826304T>C		Somatic	67	2		WXS	Illumina GAIIx	Phase_I	44	4	NM_001006932	0	0	1	1	0	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			T|0.240;C|0.760		0.647	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		C	166826304	T	C	166826304	2	2	16	1	0	0	0	0	0	0	0	1	13696	1451	51	4		4	RPS6KA2	6	166826304	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	93494264	166826304	4288763	40	3310											
GLI3	2737	hgsc.bcm.edu	37	chr7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcacgccgtggcccGgcgcatcgtgcggctgcagg	14	18	1	0	rs929387	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4	5	5	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42005678	G	A	42005678	3	1	16	1	0	0	0	0	1	0	0	0	6465	1116	39	1	1753	1	GLI3	7	42005678	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		42005678	117132985	41	3311											
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	107677982	107677982	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggatggaattggtagGtgaatgtcaagcacaccatt	12	5	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr7:107677982G>C	ENST00000388781.3	-	30	4613	c.4530C>G	c.(4528-4530)caC>caG	p.H1510Q	AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000388780.3_Missense_Mutation_p.H1510Q|LAMB4_ENST00000483484.1_5'Flank|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1510Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1510	Domain I.		H -> Y (in dbSNP:rs1627354).		cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAATTGGTAGGTGAATGTCAA	0.398																																					p.H1510Q		.											.	LAMB4-140	0			c.C4530G						.						226	214	218					7																	107677982		2203	4300	6503	SO:0001583	missense	22798	exon30			TGGTAGGTGAATG	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4530C>G	7.37:g.107677982G>C	ENSP00000373433:p.His1510Gln	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	226	19	NM_007356	0	0	0	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374248	0.05034	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.28895	1.59;1.59;2.01;1.61	4.63	0.185	0.15096	.	0.264049	0.26654	N	0.023195	T	0.11879	0.0289	N	0.19112	0.55	0.19575	N	0.999969	B;P	0.40144	0.01;0.704	B;B	0.29663	0.01;0.105	T	0.26224	-1.0109	10	0.23302	T	0.38	.	5.5311	0.16985	0.2733:0.1408:0.5859:0.0	.	1510;1510	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Q	1510;1510;536;1510	ENSP00000205386:H1510Q;ENSP00000373433:H1510Q;ENSP00000416562:H536Q;ENSP00000373432:H1510Q	ENSP00000205386:H1510Q	H	-	3	2	LAMB4	107465218	0.971000	0.33674	0.008000	0.14137	0.022000	0.10575	0.185000	0.16958	-0.064000	0.13043	-0.176000	0.13171	CAC	.		0.398	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		C	107677982	G	C	107677982	3	2	16	1	0	0	0	0	1	0	0	0	8641	1252	44	3	775	3	LAMB4	7	107677982	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	65672304	107677982	51460681	42	3312											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	16	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		8560536	137803486	43	3313											
KIAA1967	57805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22475230	22475230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagcaaagctggaggattCggaggtccggtccgttgcct	16	9	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:22475230C>T	ENST00000308511.4	+	16	2261	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	CCAR2_ENST00000520861.1_Missense_Mutation_p.S346L|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.S671L			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	671					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CTGGAGGATTCGGAGGTCCGG	0.537																																					p.S671L		.											.	KIAA1967-92	0			c.C2012T						.						187	183	184					8																	22475230		2203	4300	6503	SO:0001583	missense	57805	exon16			AGGATTCGGAGGT	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2012C>T	8.37:g.22475230C>T	ENSP00000310670:p.Ser671Leu	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	181	66	NM_021174	0	0	32	55	23	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.09|15.09	2.729438|2.729438	0.48833|0.48833	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000520738|ENST00000308511;ENST00000389279;ENST00000520861	.|T;T;T	.|0.32023	.|1.47;1.47;1.48	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.345734	.|0.26546	.|N	.|0.023775	T|T	0.18002|0.18002	0.0432|0.0432	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P;B	.|0.35700	.|0.516;0.091	.|B;B	.|0.28139	.|0.086;0.01	T|T	0.16100|0.16100	-1.0414|-1.0414	5|10	.|0.28530	.|T	.|0.3	-8.2705|-8.2705	15.6866|15.6866	0.77415|0.77415	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|346;671	.|G3V119;Q8N163	.|.;K1967_HUMAN	W|L	363|671;671;346	.|ENSP00000310670:S671L;ENSP00000373930:S671L;ENSP00000429773:S346L	.|ENSP00000310670:S671L	R|S	+|+	1|2	2|0	KIAA1967|KIAA1967	22531175|22531175	0.805000|0.805000	0.28982|0.28982	0.079000|0.079000	0.20413|0.20413	0.965000|0.965000	0.64279|0.64279	4.110000|4.110000	0.57831|0.57831	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CGG|TCG	.		0.537	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		T	22475230	C	T	22475230	3	4	16	1	0	0	0	0	1	0	0	0	8292	893	31	1	2070	1	KIAA1967	8	22475230	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	13914694	22475230	123888792	44	3314											
STMN2	11075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	80553660	80553660	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcctctggccaggcttttGagctgatcttgaagccacca	11	12	2	3			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:80553660G>C	ENST00000220876.7	+	3	545	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	STMN2_ENST00000518491.1_Missense_Mutation_p.E44Q|STMN2_ENST00000518111.1_Missense_Mutation_p.E55Q	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	55	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CCAGGCTTTTGAGCTGATCTT	0.448																																					p.E55Q		.											.	STMN2-515	0			c.G163C						.						90	87	88					8																	80553660		1950	4153	6103	SO:0001583	missense	11075	exon3			GCTTTTGAGCTGA		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.163G>C	8.37:g.80553660G>C	ENSP00000220876:p.Glu55Gln	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	90	10	NM_007029	0	0	0	0	0	A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022361	0.93462	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.68	5.68	0.88126	.	0.090508	0.85682	D	0.000000	T	0.77711	0.4171	M	0.81497	2.545	0.80722	D	1	P;P	0.52061	0.901;0.95	P;P	0.55011	0.766;0.649	T	0.79761	-0.1667	9	0.62326	D	0.03	-6.7579	19.7823	0.96420	0.0:0.0:1.0:0.0	.	55;55	B7Z4K3;Q93045	.;STMN2_HUMAN	Q	55;55;55;44	.	ENSP00000220876:E55Q	E	+	1	0	STMN2	80716215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.666000	0.90696	0.467000	0.42956	GAG	.		0.448	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		C	80553660	G	C	80553660	3	2	16	1	0	0	0	0	1	0	0	0	15356	1291	45	3	173	3	STMN2	8	80553660	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	58078430	80553660	65810362	45	3315											
E2F5	1875	hgsc.bcm.edu	37	chr8	86089787	86089787	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgcagctcgggggcgcCgggggcggcagcagcaggca	20	15	0	0	rs12926	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:86089787C>G	ENST00000416274.2	+	1	166	c.132C>G	c.(130-132)gcC>gcG	p.A44A	RP11-219B4.3_ENST00000520129.1_RNA|E2F5_ENST00000256117.5_Silent_p.A44A|E2F5_ENST00000418930.2_Silent_p.A44A|RP11-219B4.7_ENST00000562577.1_RNA|RP11-219B4.7_ENST00000566000.1_RNA	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	44					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCGGGGGCGCCGGGGGCGGCA	0.751													C|||	2815	0.562101	0.5545	0.549	5008	,	,		6370	0.4157		0.6928	False		,,,				2504	0.5982				p.A44A		.											.	E2F5-415	0			c.C132G						.	C	,	2392,1558		800,792,383	4	5	5		132,132	0.9	0.1	8	dbSNP_52	5	5668,2428		2076,1516,456	no	coding-synonymous,coding-synonymous	E2F5	NM_001083588.1,NM_001951.3	,	2876,2308,839	GG,GC,CC		29.9901,39.443,33.0898	,	44/346,44/347	86089787	8060,3986	1975	4048	6023	SO:0001819	synonymous_variant	1875	exon1			GGGCGCCGGGGGC	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.132C>G	8.37:g.86089787C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001083588	0	0	0	0	0	E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	CCDS47885.1																																																																																			C|0.434;G|0.566		0.751	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		G	86089787	C	G	86089787	2	3	16	1	0	0	0	0	0	0	0	1	4884	639	23	2		2	E2F5	8	86089787	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	5536127	86089787	60274235	46	3316											
TMEM74	157753	broad.mit.edu;bcgsc.ca	37	chr8	109796433	109796433	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actctgtacagcaagcgcatCttcctctaccaaggacagtt	7	13	3	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:109796433C>G	ENST00000297459.3	-	2	1073	c.895G>C	c.(895-897)Gat>Cat	p.D299H	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	299					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCAAGCGCATCTTCCTCTACC	0.373																																					p.D299H		.											.	TMEM74-228	0			c.G895C						.						74	74	74					8																	109796433		2203	4300	6503	SO:0001583	missense	157753	exon2			GCGCATCTTCCTC	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.895G>C	8.37:g.109796433C>G	ENSP00000297459:p.Asp299His	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	178	7	NM_153015	0	0	0	0	0		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063867	0.76187	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	5.96	0.96718	.	0.253704	0.39834	N	0.001249	T	0.78259	0.4255	L	0.56769	1.78	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.78198	-0.2297	9	0.87932	D	0	-21.5706	20.4008	0.98991	0.0:1.0:0.0:0.0	.	299	Q96NL1	TMM74_HUMAN	H	299	.	ENSP00000297459:D299H	D	-	1	0	TMEM74	109865609	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.378000	0.59568	2.826000	0.97356	0.655000	0.94253	GAT	.		0.373	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		G	109796433	C	G	109796433	3	3	16	1	0	0	0	0	1	0	0	0	16249	913	32	3	26	3	TMEM74	8	109796433	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	23706646	109796433	36567589	47	3317											
GLI4	2738	hgsc.bcm.edu	37	chr8	144358302	144358302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgcagcaagcagcggcCgggcccgagggtgcgcccga	17	15	0	0	rs1056146	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:144358302C>T	ENST00000523522.1	+	3	498	c.459C>T	c.(457-459)gcC>gcT	p.A153A	GLI4_ENST00000340042.1_Silent_p.A153A|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	153					regulation of transcription, DNA-templated (GO:0006355)	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(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGCAGCGGCCGGGCCCGAGG	0.791													C|||	1441	0.28774	0.5038	0.1888	5008	,	,		8805	0.1161		0.3072	False		,,,				2504	0.2229				p.A153A		.											.	GLI4-91	0			c.C459T						.	C		490,1334		38,414,460	1	2	1		459	-6.5	0	8	dbSNP_86	1	773,3947		46,681,1633	no	coding-synonymous	GLI4	NM_138465.3		84,1095,2093	TT,TC,CC		16.3771,26.864,19.3001		153/377	144358302	1263,5281	912	2360	3272	SO:0001819	synonymous_variant	2738	exon4			AGCGGCCGGGCCC		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.459C>T	8.37:g.144358302C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	7	NM_138465	0	0	0	1	1	Q96CK9	Silent	SNP	ENST00000523522.1	37	CCDS6398.1																																																																																			C|0.723;T|0.277		0.791	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			T	144358302	C	T	144358302	2	4	16	1	0	0	0	0	0	0	0	1	6466	639	23	1		1	GLI4	8	144358302	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	34561869	144358302	2005720	48	3318											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874477	144874477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgggtgccggtggctccGgactctgcacgcgcagccgc	16	16	1	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:144874477G>A	ENST00000320476.3	-	32	4433	c.4427C>T	c.(4426-4428)cCg>cTg	p.P1476L	RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.P1395L|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.P1476L|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1476					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)			CGGTGGCTCCGGACTCTGCAC	0.756																																					p.P1476L	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.C4427T						.						3	4	4					8																	144874477		1845	3733	5578	SO:0001583	missense	23513	exon32			GGCTCCGGACTCT	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.4427C>T	8.37:g.144874477G>A	ENSP00000322938:p.Pro1476Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_015356	0	0	18	32	14	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480577	0.26598	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.36520	1.48;1.42;1.25	4.67	3.78	0.43462	.	.	.	.	.	T	0.53981	0.1830	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.52682	-0.8543	9	0.46703	T	0.11	.	12.7913	0.57534	0.0:0.0:0.8347:0.1653	.	1476;1476;1395	Q14160;Q14160-3;Q14160-2	SCRIB_HUMAN;.;.	L	1476;1476;1395	ENSP00000349486:P1476L;ENSP00000322938:P1476L;ENSP00000366756:P1395L	ENSP00000322938:P1476L	P	-	2	0	SCRIB	144946465	1.000000	0.71417	0.879000	0.34478	0.050000	0.14768	8.947000	0.93000	0.943000	0.37553	0.556000	0.70494	CCG	.		0.756	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144874477	G	A	144874477	3	1	16	1	0	0	0	0	1	0	0	0	13982	1116	39	1	564	1	SCRIB	8	144874477	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	516175	144874477	1489545	49	3319											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000354589.3_Silent_p.A1976A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_201380	0	0	0	6	6	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	16	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	123692	144998169	1365853	50	3320											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	33	33	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	16	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	3419	145001588	1362434	51	3321											
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	16418993	16418993	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccattctgagactaatcTactgaagtgaagggaatgtt	10	6	2	3			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr9:16418993T>A	ENST00000380672.4	-	7	3351	c.3294A>T	c.(3292-3294)gtA>gtT	p.V1098V	BNC2_ENST00000545497.1_Silent_p.V1003V|BNC2_ENST00000380667.2_Silent_p.V1031V	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)		GAGACTAATCTACTGAAGTGA	0.463																																					p.V1098V		.											.	BNC2-92	0			c.A3294T						.						124	120	121					9																	16418993		2203	4300	6503	SO:0001819	synonymous_variant	54796	exon7			CTAATCTACTGAA	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.3294A>T	9.37:g.16418993T>A		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	115	72	NM_017637	0	0	0	0	0		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																			.		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		A	16418993	T	A	16418993	2	1	16	1	0	0	0	0	0	0	0	1	1477	1509	53	5		5	BNC2	9	16418993	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10		16418993	124794438	52	3322											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114128569	114128569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcagaatttcagccaaaGcctcaggatcggcatgttct	9	11	3	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr9:114128569G>T	ENST00000338205.5	-	47	5477	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1931D|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000374378.3_Intron			Q5VYK3	ECM29_HUMAN	KIAA0368	1759					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						TTCAGCCAAAGCCTCAGGATC	0.343																																					p.A1931D		.											.	KIAA0368-68	0			c.C5792A						.						69	62	64					9																	114128569		1845	4081	5926	SO:0001583	missense	23392	exon49			GCCAAAGCCTCAG	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.5258C>A	9.37:g.114128569G>T	ENSP00000339889:p.Ala1753Asp	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	105	60	NM_001080398	0	0	20	70	50	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	G	17.20	3.328874	0.60743	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66815	-0.23	5.22	4.31	0.51392	.	0.157706	0.56097	D	0.000030	T	0.56307	0.1976	L	0.50333	1.59	0.80722	D	1	B	0.28128	0.201	B	0.18263	0.021	T	0.53070	-0.8490	10	0.19147	T	0.46	-8.343	13.1726	0.59606	0.0766:0.0:0.9234:0.0	.	1228	B3KXF2	.	D	1753;1931;1228	ENSP00000259335:A1931D	ENSP00000259335:A1931D	A	-	2	0	KIAA0368	113168390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	2.426000	0.82243	0.655000	0.94253	GCT	.		0.343	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114128569	G	T	114128569	3	4	16	1	0	0	0	0	1	0	0	0	8198	971	34	3	273	3	KIAA0368	9	114128569	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	97709576	114128569	27084862	53	3323											
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	16	1	0	0	0	0	1	0	0	0	17337	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	17290259	131418828	9794603	54	3324											
ANKRD16	54522	hgsc.bcm.edu	37	chr10	5931230	5931230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggccccgggcagccccCggccgcctgcagctcctcct	13	22	0	0	rs3750659	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr10:5931230C>T	ENST00000380094.5	-	1	631	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	ANKRD16_ENST00000191063.8_Missense_Mutation_p.G30R|ANKRD16_ENST00000380092.4_Missense_Mutation_p.G30R|FBXO18_ENST00000362091.4_5'Flank|FBXO18_ENST00000397269.3_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	30										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						gggcagcccccggccgccTGC	0.786													C|||	303	0.0605032	8e-04	0.0346	5008	,	,		8341	0.1429		0.0368	False		,,,				2504	0.0992				p.G30R		.											.	ANKRD16-90	0			c.G88A						.	C	ARG/GLY,ARG/GLY,ARG/GLY	18,3412		0,18,1697	3	4	4		88,88,88	0.9	0	10	dbSNP_107	4	172,6644		1,170,3237	no	missense,missense,missense	ANKRD16	NM_001009941.2,NM_001009943.2,NM_019046.2	125,125,125	1,188,4934	TT,TC,CC		2.5235,0.5248,1.8544	benign,benign,benign	30/362,30/305,30/362	5931230	190,10056	1715	3408	5123	SO:0001583	missense	54522	exon1			AGCCCCCGGCCGC	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.88G>A	10.37:g.5931230C>T	ENSP00000369436:p.Gly30Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_001009943	0	0	0	0	0	A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	130	0.05952380952380952	17	0.034552845528455285	13	0.03591160220994475	69	0.12062937062937062	31	0.040897097625329816	C	15.52	2.858404	0.51376	0.005248	0.025235	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.65549	-0.16;-0.16;0.17	4.22	0.951	0.19579	Ankyrin repeat-containing domain (1);	0.519198	0.21401	N	0.075148	T	0.00666	0.0022	N	0.24115	0.695	0.80722	P	0.0	B;B;B	0.17852	0.001;0.024;0.019	B;B;B	0.17433	0.003;0.018;0.009	T	0.04930	-1.0917	9	0.59425	D	0.04	-8.5351	5.2185	0.15356	0.0:0.5957:0.148:0.2563	rs3750659	30;30;30	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	R	30	ENSP00000369436:G30R;ENSP00000369434:G30R;ENSP00000352361:G30R	ENSP00000352361:G30R	G	-	1	0	ANKRD16	5971236	0.000000	0.05858	0.005000	0.12908	0.790000	0.44656	-0.387000	0.07361	0.353000	0.24079	0.430000	0.28490	GGG	C|0.938;T|0.062		0.786	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		T	5931230	C	T	5931230	3	4	16	1	0	0	0	0	1	0	0	0	645	652	23	1	1025	1	ANKRD16	10	5931230	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		5931230	129603517	55	3325											
RPP38	10557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	15145497	15145497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggacttcagaagattgaaGataagaagaaaaagaacaaa	9	3	1	7			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr10:15145497G>T	ENST00000378197.4	+	3	698	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.D62Y|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	62					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GAAGATTGAAGATAAGAAGAA	0.408																																					p.D62Y	GBM(118;1591 1611 9649 34378 50720)	.											.	RPP38-91	0			c.G184T						.						51	55	54					10																	15145497		2203	4300	6503	SO:0001583	missense	10557	exon2			ATTGAAGATAAGA	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.184G>T	10.37:g.15145497G>T	ENSP00000367439:p.Asp62Tyr	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	112	39	NM_001265601	0	0	8	11	3	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012294	0.35511	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.23552	2.9;2.9;2.9;1.9	5.75	2.42	0.29668	.	0.551000	0.19378	N	0.115726	T	0.22126	0.0533	M	0.68317	2.08	0.09310	N	1	P	0.42409	0.779	B	0.36808	0.233	T	0.19614	-1.0300	10	0.59425	D	0.04	-19.7047	5.0591	0.14548	0.2553:0.3088:0.4359:0.0	.	62	P78345	RPP38_HUMAN	Y	62	ENSP00000367445:D62Y;ENSP00000367444:D62Y;ENSP00000367439:D62Y;ENSP00000402635:D62Y	ENSP00000367439:D62Y	D	+	1	0	RPP38	15185503	0.997000	0.39634	0.507000	0.27676	0.405000	0.30901	0.871000	0.28023	0.765000	0.33221	0.650000	0.86243	GAT	.		0.408	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		T	15145497	G	T	15145497	3	4	16	1	0	0	0	0	1	0	0	0	13658	942	33	3	186	3	RPP38	10	15145497	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	9214267	15145497	120389250	56	3326											
DDX50	79009	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	70672928	70672928	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcaggtacttgtttTggctccaacaagggaactgg	11	9	2	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr10:70672928T>A	ENST00000373585.3	+	5	757	c.650T>A	c.(649-651)tTg>tAg	p.L217*	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	217	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GTACTTGTTTTGGCTCCAACA	0.343																																					p.L217X		.											.	DDX50-91	0			c.T650A						.						59	58	59					10																	70672928		2203	4300	6503	SO:0001587	stop_gained	79009	exon5			TTGTTTTGGCTCC	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.650T>A	10.37:g.70672928T>A	ENSP00000362687:p.Leu217*	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	175	9	NM_024045	0	0	0	0	0	Q5VX37|Q8WV76|Q9BWI8	Nonsense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	34	5.383397	0.95967	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	5.05	5.05	0.67936	.	0.062829	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9484	15.0866	0.72158	0.0:0.0:0.0:1.0	.	.	.	.	X	217	.	ENSP00000362687:L217X	L	+	2	0	DDX50	70342934	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	2.038000	0.60285	0.379000	0.24179	TTG	.		0.343	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		A	70672928	T	A	70672928	4	1	16	1	0	0	0	0	0	1	0	0	4377	1821	63	5	668	5	DDX50	10	70672928	Nonsense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	55527431	70672928	64861819	57	3327											
CNNM1	26507	broad.mit.edu	37	chr10	101124187	101124187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggtaaagtggaggTggaggttggtaaggaaggcc	18	4	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr10:101124187T>G	ENST00000356713.4	+	5	2331	c.2042T>G	c.(2041-2043)gTg>gGg	p.V681G	CNNM1_ENST00000370534.4_Missense_Mutation_p.V316G|CNNM1_ENST00000370528.3_Missense_Mutation_p.V610G|CNNM1_ENST00000446890.1_Missense_Mutation_p.V610G	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	681					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.V316G(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAAGTGGAGGTGGAGGTTGGT	0.433																																					p.V681G		.											.	CNNM1-68	1	Substitution - Missense(1)	skin(1)	c.T2042G						.						88	69	75					10																	101124187		2203	4300	6503	SO:0001583	missense	26507	exon5			TGGAGGTGGAGGT	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2042T>G	10.37:g.101124187T>G	ENSP00000349147:p.Val681Gly	Somatic	35	7		WXS	Illumina GAIIx	Phase_I	41	13	NM_020348	0	0	0	0	0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242197	0.79912	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;D	0.90676	-2.65;-2.71;-2.63;-1.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;0.996	D;D;D;D	0.81914	0.995;0.979;0.971;0.969	D	0.96895	0.9656	10	0.87932	D	0	-22.9685	15.9362	0.79712	0.0:0.0:0.0:1.0	.	316;681;316;681	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	G	681;610;610;316;134	ENSP00000349147:V681G;ENSP00000406492:V610G;ENSP00000359559:V610G;ENSP00000359565:V316G	ENSP00000349147:V681G	V	+	2	0	CNNM1	101114177	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.841000	0.86834	2.170000	0.68504	0.379000	0.24179	GTG	.		0.433	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		G	101124187	T	G	101124187	3	3	16	1	0	0	0	0	1	0	0	0	3619	1696	59	5	2060	5	CNNM1	10	101124187	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	30451259	101124187	34410560	58	3328											
EPS8L2	64787	broad.mit.edu	37	chr11	726471	726471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctggctggaagccaagGccttcagcccgcggtgagcg	16	14	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr11:726471G>T	ENST00000533256.1	+	20	2296	c.1921G>T	c.(1921-1923)Gcc>Tcc	p.A641S	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A641S|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A657S|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A641S			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	641					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGCCAAGGCCTTCAGCCC	0.756																																					p.A641S		.											.	EPS8L2-91	0			c.G1921T						.																																			SO:0001583	missense	64787	exon19			GCCAAGGCCTTCA	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1921G>T	11.37:g.726471G>T	ENSP00000435585:p.Ala641Ser	Somatic	54	2		WXS	Illumina GAIIx	Phase_I	44	8	NM_022772	0	0	0	0	0	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212487	0.39102	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.3	1.09	0.20402	.	0.208508	0.29383	U	0.012303	T	0.11153	0.0272	L	0.27053	0.805	0.26101	N	0.980812	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.003	T	0.23297	-1.0192	10	0.45353	T	0.12	-19.1124	9.8968	0.41322	0.0:0.0:0.5629:0.4371	.	657;641	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	S	641;641;641;657	ENSP00000320828:A641S;ENSP00000435585:A641S;ENSP00000436035:A641S;ENSP00000436230:A657S	ENSP00000320828:A641S	A	+	1	0	EPS8L2	716471	1.000000	0.71417	0.995000	0.50966	0.558000	0.35554	2.264000	0.43302	0.706000	0.31912	0.298000	0.19748	GCC	.		0.756	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		T	726471	G	T	726471	3	4	16	1	0	0	0	0	1	0	0	0	5212	1203	42	3	1991	3	EPS8L2	11	726471	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		726471	134280045	59	3329											
MUC6	4588	bcgsc.ca	37	chr11	1017249	1017249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatgaccgtgtgagtaCttggagtcaccaaggaggtg	16	6	1	3			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr11:1017249C>T	ENST00000421673.2	-	31	5602	c.5552G>A	c.(5551-5553)aGt>aAt	p.S1851N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1851	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTGTGAGTACTTGGAGTCAC	0.542																																					p.S1851N		.											.	MUC6-23	0			c.G5552A						.																																			SO:0001583	missense	4588	exon31			TGAGTACTTGGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5552G>A	11.37:g.1017249C>T	ENSP00000406861:p.Ser1851Asn	Somatic	1494	36		WXS	Illumina GAIIx	Phase_I	929	52	NM_005961	0	0	0	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	4.088	0.014305	0.07959	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	2.55	-0.458	0.12182	.	.	.	.	.	T	0.20901	0.0503	L	0.53249	1.67	0.09310	N	1	B	0.28128	0.201	B	0.38428	0.273	T	0.43410	-0.9393	9	0.15066	T	0.55	.	7.3143	0.26491	0.0:0.3432:0.4818:0.175	.	1851	Q6W4X9	MUC6_HUMAN	N	1851	ENSP00000406861:S1851N	ENSP00000406861:S1851N	S	-	2	0	MUC6	1007249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.083000	0.12618	-3.978000	0.00014	AGT	.		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017249	C	T	1017249	3	4	16	1	0	0	0	0	1	0	0	0	10018	565	20	3	1779	3	MUC6	11	1017249	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	290778	1017249	133989267	60	3330											
OR52B6	340980	bcgsc.ca	37	chr11	5602438	5602438	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggctaggttatagccTcatttcctttgatggctgcc	10	9	1	1	rs541562623|rs2341432	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr11:5602438T>A	ENST00000345043.2	+	1	332	c.332T>A	c.(331-333)cTc>cAc	p.L111H	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	111			L -> H (in dbSNP:rs2341432).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTATAGCCTCATTTCCTTT	0.502														3581	0.715056	0.7352	0.67	5008	,	,		23317	0.9802		0.4761	False		,,,				2504	0.6922				p.L111H		.											.	OR52B6-69	0			c.T332A						.	A	HIS/LEU	3064,1328	394.9+/-329.4	1077,910,209	109	110	109		332	2.7	0	11	dbSNP_100	109	4023,4567	578.8+/-390.8	936,2151,1208	yes	missense	OR52B6	NM_001005162.2	99	2013,3061,1417	AA,AT,TT		46.8335,30.2368,45.409	benign	111/336	5602438	7087,5895	2196	4295	6491	SO:0001583	missense	340980	exon1			ATAGCCTCATTTC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.332T>A	11.37:g.5602438T>A	ENSP00000341581:p.Leu111His	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	162	7	NM_001005162	0	0	0	0	0	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	1483	0.6790293040293041	348	0.7073170731707317	227	0.6270718232044199	553	0.9667832167832168	355	0.4683377308707124	A	3.783	-0.045281	0.07452	0.697632	0.468335	ENSG00000187747	ENST00000345043	T	0.00554	6.64	5.15	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.686748	0.11712	N	0.536805	T	0.00012	0.0000	N	0.10707	0.03	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38265	-0.9669	9	0.41790	T	0.15	.	5.9086	0.19014	0.5833:0.1517:0.0:0.265	rs2341432;rs16933200;rs52836118;rs60418242;rs2341432	111	Q8NGF0	O52B6_HUMAN	H	111	ENSP00000341581:L111H	ENSP00000341581:L111H	L	+	2	0	OR52B6	5559014	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.473000	0.22132	0.400000	0.25396	-0.265000	0.10407	CTC	T|0.358;A|0.642		0.502	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		A	5602438	T	A	5602438	3	1	16	1	0	0	0	0	1	0	0	0	11152	1551	54	5	334	5	OR52B6	11	5602438	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	4585189	5602438	129404078	61	3331											
PCNXL3	399909	bcgsc.ca	37	chr11	65387378	65387378	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacttctgagggtgcTgtgcactatttctacgatga	11	8	2	3	rs61744384	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr11:65387378T>A	ENST00000355703.3	+	8	2522	c.1983T>A	c.(1981-1983)gcT>gcA	p.A661A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	661						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGAGGGTGCTGTGCACTATT	0.612													T|||	2062	0.411741	0.2065	0.3228	5008	,	,		19233	0.4355		0.4672	False		,,,				2504	0.6708				p.A661A		.											.	PCNXL3-46	0			c.T1983A						.	T		1012,3214		128,756,1229	53	52	52		1983	-3.8	0.6	11	dbSNP_129	52	3728,4694		836,2056,1319	no	coding-synonymous	PCNXL3	NM_032223.2		964,2812,2548	AA,AT,TT		44.265,23.947,37.4763		661/2035	65387378	4740,7908	2113	4211	6324	SO:0001819	synonymous_variant	399909	exon8			GGGTGCTGTGCAC	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.1983T>A	11.37:g.65387378T>A		Somatic	116	1		WXS	Illumina GAIIx	Phase_I	76	4	NM_032223	0	0	0	0	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			T|0.604;A|0.396		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65387378	T	A	65387378	2	1	16	1	0	0	0	0	0	0	0	1	11632	1567	55	5		5	PCNXL3	11	65387378	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	59784940	65387378	69619138	62	3332											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	16	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	422831	65810209	69196307	63	3333											
KLHDC5	57542	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	27950800	27950800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgagctggggcccaacCgcaggagcagccagagcgag	15	14	0	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr12:27950800C>T	ENST00000381271.2	+	3	1530	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	407					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGGGCCCAACCGCAGGAGCAG	0.582																																					p.R407C		.											.	.	0			c.C1219T						.						101	89	93					12																	27950800		2203	4300	6503	SO:0001583	missense	57542	exon3			CCCAACCGCAGGA	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1219C>T	12.37:g.27950800C>T	ENSP00000370671:p.Arg407Cys	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	216	75	NM_020782	0	0	7	11	4	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310002	0.60414	.	.	ENSG00000087448	ENST00000381271	T	0.76060	-0.99	5.42	2.32	0.28847	Kelch-type beta propeller (1);	0.157867	0.47852	D	0.000218	T	0.60130	0.2245	L	0.34521	1.04	0.09310	N	0.999999	B	0.17465	0.022	B	0.08055	0.003	T	0.57027	-0.7881	10	0.72032	D	0.01	.	8.227	0.31575	0.1383:0.7083:0.0:0.1534	.	407	Q9P2K6	KLDC5_HUMAN	C	407	ENSP00000370671:R407C	ENSP00000370671:R407C	R	+	1	0	KLHDC5	27842067	0.062000	0.20869	0.076000	0.20297	0.986000	0.74619	1.383000	0.34385	1.269000	0.44280	0.655000	0.94253	CGC	.		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		T	27950800	C	T	27950800	3	4	16	1	0	0	0	0	1	0	0	0	8386	652	23	1	1229	1	KLHDC5	12	27950800	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		27950800	105901095	64	3334											
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	50822742	50822742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagctctcagaagataTatgtaaagaatatgaagtaa	9	4	1	5	rs541317273	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr12:50822742T>C	ENST00000398473.2	+	3	303	c.191T>C	c.(190-192)aTa>aCa	p.I64T	LARP4_ENST00000347328.5_Missense_Mutation_p.I64T|LARP4_ENST00000293618.8_Missense_Mutation_p.I64T|LARP4_ENST00000522085.1_Missense_Mutation_p.I64T|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000429001.3_Missense_Mutation_p.I70T|LARP4_ENST00000518444.1_Missense_Mutation_p.I63T	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	64					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						TCAGAAGATATATGTAAAGAA	0.343													T|||	5	0.000998403	0	0	5008	,	,		17131	0		0	False		,,,				2504	0.0051				p.I64T		.											.	LARP4-91	0			c.T191C						.						77	73	74					12																	50822742		1813	4072	5885	SO:0001583	missense	113251	exon3			AAGATATATGTAA	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.191T>C	12.37:g.50822742T>C	ENSP00000381490:p.Ile64Thr	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	35	14	NM_001170808	0	0	0	1	1	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.663150	0.00772	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548174;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000520064;ENST00000347328;ENST00000550260	T;T;T;T;T;T	0.40756	1.6;1.55;1.6;1.02;1.6;1.61	5.31	-3.27	0.05048	.	1.095370	0.06824	N	0.792755	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.19331	0.001;0.0;0.032;0.001;0.035	B;B;B;B;B	0.22386	0.003;0.0;0.039;0.001;0.03	T	0.26710	-1.0095	10	0.05959	T	0.93	.	2.6833	0.05100	0.0956:0.2979:0.1644:0.4422	.	63;64;64;64;70	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	T	64;70;72;64;64;64;63;64;63;64;63	ENSP00000293618:I64T;ENSP00000415464:I70T;ENSP00000381490:I64T;ENSP00000429781:I64T;ENSP00000429077:I63T;ENSP00000340901:I64T	ENSP00000293618:I64T	I	+	2	0	LARP4	49109009	0.385000	0.25172	0.348000	0.25681	0.594000	0.36715	0.278000	0.18753	-0.136000	0.11475	-2.064000	0.00396	ATA	.		0.343	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		C	50822742	T	C	50822742	3	2	16	1	0	0	0	0	1	0	0	0	8658	1406	49	4	201	4	LARP4	12	50822742	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	22871942	50822742	83029153	65	3335											
MARS	4141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57908595	57908595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggcccatgtcacccTggagctccagcactatcacc	8	18	2	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr12:57908595T>G	ENST00000262027.5	+	16	2194	c.2060T>G	c.(2059-2061)cTg>cGg	p.L687R	MARS_ENST00000315473.5_Missense_Mutation_p.L453R|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	687					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CATGTCACCCTGGAGCTCCAG	0.522																																					p.L687R		.											.	MARS-654	0			c.T2060G						.						205	203	204					12																	57908595		2203	4300	6503	SO:0001583	missense	4141	exon16			TCACCCTGGAGCT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2060T>G	12.37:g.57908595T>G	ENSP00000262027:p.Leu687Arg	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	102	32	NM_004990	0	0	27	43	16	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	T	3.368	-0.129077	0.06753	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000552914	T;T;T	0.40476	1.03;1.03;1.03	5.55	3.1	0.35709	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.533605	0.20132	N	0.098569	T	0.10035	0.0246	N	0.00841	-1.15	0.29744	N	0.836895	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30446	-0.9978	10	0.02654	T	1	-2.7408	2.9901	0.05980	0.1401:0.0776:0.1563:0.626	.	453;687	A6NC17;P56192	.;SYMC_HUMAN	R	687;453;43	ENSP00000262027:L687R;ENSP00000314653:L453R;ENSP00000449787:L43R	ENSP00000262027:L687R	L	+	2	0	MARS	56194862	0.978000	0.34361	0.948000	0.38648	0.998000	0.95712	1.628000	0.37060	0.433000	0.26313	0.482000	0.46254	CTG	.		0.522	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		G	57908595	T	G	57908595	3	3	16	1	0	0	0	0	1	0	0	0	9354	1580	55	5	2122	5	MARS	12	57908595	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	7085853	57908595	75943300	66	3336											
NCOR2	9612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	124904549	124904549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctcaccaggctcttaTagttctcattcttcttagtc	5	13	5	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr12:124904549T>C	ENST00000405201.1	-	13	1436	c.1436A>G	c.(1435-1437)tAt>tGt	p.Y479C	NCOR2_ENST00000356219.3_Missense_Mutation_p.Y479C|NCOR2_ENST00000404121.2_Missense_Mutation_p.Y49C|NCOR2_ENST00000397355.1_Missense_Mutation_p.Y479C|NCOR2_ENST00000404621.1_Missense_Mutation_p.Y478C|NCOR2_ENST00000429285.2_Missense_Mutation_p.Y478C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	479					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)		CAGGCTCTTATAGTTCTCATT	0.567																																					p.Y479C		.											.	NCOR2-229	0			c.A1436G						.						120	127	125					12																	124904549		1996	4164	6160	SO:0001583	missense	9612	exon15			CTCTTATAGTTCT	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.1436A>G	12.37:g.124904549T>C	ENSP00000384018:p.Tyr479Cys	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	67	32	NM_006312	0	0	3	5	2	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450010	0.43531	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000420698	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	4.52	4.52	0.55395	.	0.318356	0.30235	N	0.010097	T	0.69160	0.3080	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.76658	-0.2878	10	0.87932	D	0	-14.6792	14.1788	0.65559	0.0:0.0:0.0:1.0	.	478;479;479	C9J0Q5;C9J239;C9JFD3	.;.;.	C	479;478;479;479;479;49;478;479;479	ENSP00000384018:Y479C;ENSP00000384202:Y478C;ENSP00000348551:Y479C;ENSP00000380513:Y479C;ENSP00000385618:Y49C;ENSP00000400281:Y478C;ENSP00000402808:Y479C;ENSP00000405367:Y479C	ENSP00000348551:Y479C	Y	-	2	0	NCOR2	123470502	1.000000	0.71417	0.995000	0.50966	0.920000	0.55202	7.528000	0.81941	1.831000	0.53308	0.459000	0.35465	TAT	.		0.567	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		C	124904549	T	C	124904549	3	2	16	1	0	0	0	0	1	0	0	0	10275	1406	49	4	6272	4	NCOR2	12	124904549	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	66995954	124904549	8947346	67	3337											
POLE	5426	bcgsc.ca	37	chr12	133219831	133219831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagcacaaagacggaTgccctgcgctgtgaggggat	15	10	0	2	rs5744944	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr12:133219831T>C	ENST00000320574.5	-	35	4573	c.4530A>G	c.(4528-4530)gcA>gcG	p.A1510A	POLE_ENST00000535270.1_Silent_p.A1483A|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1510					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAAGACGGATGCCCTGCGCT	0.602								DNA polymerases (catalytic subunits)					C|||	3031	0.605232	0.761	0.5317	5008	,	,		20994	0.6736		0.4304	False		,,,				2504	0.5562				p.A1510A		.											.	POLE-233	0			c.A4530G						.	C		3091,1315	441.2+/-346.3	1076,939,188	101	91	94		4530	-11.9	0.1	12	dbSNP_114	94	3703,4897	619.4+/-396.9	797,2109,1394	no	coding-synonymous	POLE	NM_006231.2		1873,3048,1582	CC,CT,TT		43.0581,29.8457,47.7626		1510/2287	133219831	6794,6212	2203	4300	6503	SO:0001819	synonymous_variant	5426	exon35			GACGGATGCCCTG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4530A>G	12.37:g.133219831T>C		Somatic	118	1		WXS	Illumina GAIIx	Phase_I	112	7	NM_006231	0	0	2	2	0	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																			T|0.448;C|0.552		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		C	133219831	T	C	133219831	2	2	16	1	0	0	0	0	0	0	0	1	12235	1451	51	4		4	POLE	12	133219831	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	8315282	133219831	632064	68	3338											
OLFM4	10562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	53603040	53603040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgcaggggatttgggGgatgtgggacctccaattcc	15	9	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr13:53603040G>A	ENST00000219022.2	+	1	147	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	23					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)		GGGATTTGGGGGATGTGGGAC	0.607																																					p.G23G		.											.	OLFM4-69	0			c.G69A						.						116	121	119					13																	53603040		2203	4300	6503	SO:0001819	synonymous_variant	10562	exon1			TTTGGGGGATGTG	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.69G>A	13.37:g.53603040G>A		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	42	31	NM_006418	0	0	0	0	0	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																			.		0.607	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53603040	G	A	53603040	2	1	16	1	0	0	0	0	0	0	0	1	10894	1219	43	3		3	OLFM4	13	53603040	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		53603040	61566838	69	3339											
TMTC4	84899	bcgsc.ca	37	chr13	101287404	101287404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagaacaggttactcgcGgggagaaatgggataacgag	16	6	0	2	rs2297943	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr13:101287404G>A	ENST00000376234.3	-	10	1380	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	TMTC4_ENST00000328767.5_Silent_p.P286P|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Silent_p.P416P	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	397						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)					GGTTACTCGCGGGGAGAAATG	0.488													.|||	1331	0.265775	0.0378	0.3617	5008	,	,		19380	0.3343		0.3598	False		,,,				2504	0.3384				p.P416P		.											.	TMTC4-155	0			c.C1248T						.	G	,	392,4014	192.6+/-218.0	19,354,1830	41	38	39		1191,1248	1.3	1	13	dbSNP_100	39	2920,5680	449.5+/-362.1	497,1926,1877	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	516,2280,3707	AA,AG,GG		33.9535,8.897,25.4652	,	397/742,416/761	101287404	3312,9694	2203	4300	6503	SO:0001819	synonymous_variant	84899	exon11			ACTCGCGGGGAGA		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.1191C>T	13.37:g.101287404G>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	96	6	NM_032813	0	0	3	3	0	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																			G|0.737;A|0.263		0.488	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		A	101287404	G	A	101287404	2	1	16	1	0	0	0	0	0	0	0	1	16310	1103	39	1		1	TMTC4	13	101287404	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	47684364	101287404	13882474	70	3340											
OR4N2	390429	bcgsc.ca	37	chr14	20296519	20296519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaggtgtttaataaGcacatagcctgaaaaagggc	10	5	0	2	rs201350516		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr14:20296519G>A	ENST00000315947.1	+	1	912	c.912G>A	c.(910-912)aaG>aaA	p.K304K	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	304						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)		TGTTTAATAAGCACATAGCCT	0.338																																					p.K304K		.											.	OR4N2-71	0			c.G912A						.						24	26	25					14																	20296519		2188	4237	6425	SO:0001819	synonymous_variant	390429	exon1			TAATAAGCACATA		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.912G>A	14.37:g.20296519G>A		Somatic	61	2		WXS	Illumina GAIIx	Phase_I	42	8	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	CCDS32022.1																																																																																			G|0.999;A|0.001		0.338	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296519	G	A	20296519	2	1	16	1	0	0	0	0	0	0	0	1	11116	962	34	3		3	OR4N2	14	20296519	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		20296519	87053021	71	3341											
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_018139	0	0	0	0	0	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	16	1	0	0	0	0	0	0	0	1	1741	639	23	2		2	C14orf104	14	50100683	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	29804164	50100683	57248857	72	3342											
PLEKHH1	57475	bcgsc.ca	37	chr14	68041061	68041061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaaggtgcaggccaccGggcctccagctctgcttcgg	14	14	1	1	rs61534804	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr14:68041061G>A	ENST00000329153.5	+	14	2161	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	677						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGGCCACCGGGCCTCCAGC	0.617													G|||	537	0.107228	0.0938	0.2046	5008	,	,		18719	0.0625		0.0905	False		,,,				2504	0.1196				p.G677R		.											.	PLEKHH1-22	0			c.G2029A						.	G	ARG/GLY	294,3622		14,266,1678	24	24	24		2029	4.5	0.9	14	dbSNP_129	24	688,7544		32,624,3460	yes	missense	PLEKHH1	NM_020715.2	125	46,890,5138	AA,AG,GG		8.3576,7.5077,8.0836	benign	677/1365	68041061	982,11166	1958	4116	6074	SO:0001583	missense	57475	exon14			GCCACCGGGCCTC	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2029G>A	14.37:g.68041061G>A	ENSP00000330278:p.Gly677Arg	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	102	5	NM_020715	0	0	5	5	0	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	220	0.10073260073260074	42	0.08536585365853659	82	0.2265193370165746	30	0.05244755244755245	66	0.0870712401055409	G	17.79	3.475788	0.63737	0.075077	0.083576	ENSG00000054690	ENST00000329153	T	0.72394	-0.65	5.41	4.51	0.55191	.	0.174933	0.52532	N	0.000063	T	0.00073	0.0002	L	0.44542	1.39	0.09310	P	0.9999999999999999	D;B	0.64830	0.994;0.259	P;B	0.60286	0.872;0.018	T	0.08106	-1.0738	9	0.35671	T	0.21	.	8.6628	0.34103	0.2123:0.0:0.7877:0.0	rs61534804	192;677	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	R	677	ENSP00000330278:G677R	ENSP00000330278:G677R	G	+	1	0	PLEKHH1	67110814	0.963000	0.33076	0.918000	0.36340	0.734000	0.41952	1.912000	0.39946	1.507000	0.48752	0.591000	0.81541	GGG	G|0.897;A|0.103		0.617	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68041061	G	A	68041061	3	1	16	1	0	0	0	0	1	0	0	0	12115	1116	39	1	2079	1	PLEKHH1	14	68041061	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	17940378	68041061	39308479	73	3343											
CATSPERB	79820	hgsc.bcm.edu;bcgsc.ca	37	chr14	92126304	92126304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaattgaaaggtgttgcCgccatcaactgaaagccata	8	8	1	2	rs147058492	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr14:92126304C>T	ENST00000256343.3	-	15	1465	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	437					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)		p.G437S(1)		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)				AAGGTGTTGCCGCCATCAACT	0.358																																					p.G437S		.											.	CATSPERB-138	1	Substitution - Missense(1)	large_intestine(1)	c.G1309A						.	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	80	80	80		1309	4.6	1	14	dbSNP_134	80	5,8595	3.7+/-12.6	0,5,4295	yes	missense	CATSPERB	NM_024764.2	56	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	437/1117	92126304	6,13000	2203	4300	6503	SO:0001583	missense	79820	exon15			TGTTGCCGCCATC	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.1309G>A	14.37:g.92126304C>T	ENSP00000256343:p.Gly437Ser	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	55	4	NM_024764	0	0	0	0	0	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837079	0.50951	2.27E-4	5.81E-4	ENSG00000133962	ENST00000256343	T	0.61627	0.09	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000047	T	0.71333	0.3327	L	0.58101	1.795	0.37009	D	0.895654	D	0.89917	1.0	D	0.91635	0.999	T	0.77943	-0.2398	10	0.87932	D	0	-9.6013	13.332	0.60492	0.0:1.0:0.0:0.0	.	437	Q9H7T0	CTSRB_HUMAN	S	437	ENSP00000256343:G437S	ENSP00000256343:G437S	G	-	1	0	CATSPERB	91196057	1.000000	0.71417	0.957000	0.39632	0.192000	0.23643	3.716000	0.54904	2.258000	0.74832	0.555000	0.69702	GGC	C|0.999;T|0.001		0.358	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		T	92126304	C	T	92126304	3	4	16	1	0	0	0	0	1	0	0	0	2698	652	23	1	2093	1	CATSPERB	14	92126304	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	24085243	92126304	15223236	74	3344											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	16	NM_001127258	0	0	0	0	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	16	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	8015385	100141689	7207851	75	3345											
PDIA2	64714	broad.mit.edu	37	chr16	334557	334557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctacgctcaagttcttcCgcaatgggaaccgcacgcac	8	16	2	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr16:334557C>T	ENST00000219406.6	+	2	388	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	PDIA2_ENST00000404312.1_Missense_Mutation_p.R124C	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	124	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAAGTTCTTCCGCAATGGGAA	0.667																																					p.R124C		.											.	PDIA2-91	0			c.C370T						.						51	58	56					16																	334557		2151	4240	6391	SO:0001583	missense	64714	exon2			TTCTTCCGCAATG	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.370C>T	16.37:g.334557C>T	ENSP00000219406:p.Arg124Cys	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	149	4	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.308617	0.40895	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.43294	0.95;0.95	4.14	1.85	0.25348	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.598782	0.14003	N	0.347977	T	0.62048	0.2396	M	0.80746	2.51	0.33045	D	0.532037	D	0.76494	0.999	D	0.68765	0.96	T	0.71794	-0.4485	10	0.87932	D	0	.	10.8189	0.46593	0.3869:0.6131:0.0:0.0	.	124	Q13087	PDIA2_HUMAN	C	124;93;124	ENSP00000219406:R124C;ENSP00000384410:R124C	ENSP00000219406:R124C	R	+	1	0	PDIA2	274558	0.171000	0.23029	0.876000	0.34364	0.094000	0.18550	0.668000	0.25127	1.873000	0.54277	0.550000	0.68814	CGC	.		0.667	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		T	334557	C	T	334557	3	4	16	1	0	0	0	0	1	0	0	0	11707	652	23	1	376	1	PDIA2	16	334557	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		334557	90020196	76	3346											
RABEP2	79874	broad.mit.edu	37	chr16	28922226	28922226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatctgcagctgcacccGctcctgggcctggctcacgg	11	18	2	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr16:28922226G>A	ENST00000358201.4	-	7	1660	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RABEP2_ENST00000357573.6_Missense_Mutation_p.R326W|RABEP2_ENST00000544477.1_Missense_Mutation_p.R287W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	358					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						AGCTGCACCCGCTCCTGGGCC	0.667																																					p.R358W	Pancreas(66;639 1284 10093 31061 49099)	.											.	RABEP2-137	0			c.C1072T						.						39	43	42					16																	28922226		2040	4185	6225	SO:0001583	missense	79874	exon7			GCACCCGCTCCTG	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.1072C>T	16.37:g.28922226G>A	ENSP00000350934:p.Arg358Trp	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	89	4	NM_024816	0	0	56	59	3		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438583	0.62955	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.46063	0.88;0.88;0.88	5.12	4.11	0.48088	Rabaptin, GTPase-Rab5 binding (1);	0.140168	0.47455	D	0.000237	T	0.57740	0.2074	L	0.57536	1.79	0.34681	D	0.724696	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.73708	0.91;0.967;0.981;0.948	T	0.69785	-0.5051	10	0.87932	D	0	-40.2673	12.0048	0.53252	0.0:0.0:0.7306:0.2694	.	287;326;358;358	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	W	358;326;287	ENSP00000350934:R358W;ENSP00000350186:R326W;ENSP00000442798:R287W	ENSP00000350186:R326W	R	-	1	2	RABEP2	28829727	0.993000	0.37304	1.000000	0.80357	0.920000	0.55202	2.052000	0.41316	2.395000	0.81488	0.561000	0.74099	CGG	.		0.667	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		A	28922226	G	A	28922226	3	1	16	1	0	0	0	0	1	0	0	0	13007	1086	38	1	665	1	RABEP2	16	28922226	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	28587669	28922226	61432527	77	3347											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	24	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	16	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JK-01A-11D-A29I-10	59677471	88599697	1755056	78	3348											
P2RX5	5026	broad.mit.edu	37	chr17	3592842	3592842	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatcacggagcccagtcGgaagatggggcagtagtggt	18	8	1	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:3592842G>A	ENST00000225328.5	-	7	1095	c.697C>T	c.(697-699)Cga>Tga	p.R233*	P2RX5_ENST00000547178.1_Nonsense_Mutation_p.R232*|P2RX5_ENST00000552050.1_Nonsense_Mutation_p.R173*|P2RX5-TAX1BP3_ENST00000550383.1_Nonsense_Mutation_p.R233*|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000345901.3_Nonsense_Mutation_p.R209*|P2RX5_ENST00000552276.1_Nonsense_Mutation_p.R232*|P2RX5_ENST00000435558.1_Nonsense_Mutation_p.R233*|P2RX5_ENST00000551178.1_Nonsense_Mutation_p.R208*	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	233					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GAGCCCAGTCGGAAGATGGGG	0.622																																					p.R233X		.											.	P2RX5-22	0			c.C697T						.						182	149	160					17																	3592842		2203	4300	6503	SO:0001587	stop_gained	5026	exon7			CCAGTCGGAAGAT	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.697C>T	17.37:g.3592842G>A	ENSP00000225328:p.Arg233*	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	143	6	NM_002561	0	0	0	0	0	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Nonsense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981807	0.97168	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	.	.	.	5.44	2.38	0.29361	.	0.660669	0.14972	N	0.287768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2017	4.7506	0.13059	0.1331:0.1201:0.6228:0.124	.	.	.	.	X	233;208;232;233;209;173	.	ENSP00000225328:R233X	R	-	1	2	P2RX5	3539591	1.000000	0.71417	0.413000	0.26509	0.614000	0.37383	3.921000	0.56454	0.369000	0.24510	0.655000	0.94253	CGA	.		0.622	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		A	3592842	G	A	3592842	4	1	16	1	0	0	0	0	0	1	0	0	11382	1124	39	1	595	1	P2RX5	17	3592842	Nonsense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		3592842	77602368	79	3349											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	16	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	1100500	4693342	76501868	80	3350											
HES7	84667	bcgsc.ca	37	chr17	8026364	8026364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctggtcccgggtccgCtccagcagcagcagcctcag	12	17	1	1	rs61731639	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:8026364C>T	ENST00000317814.4	-	2	122	c.123G>A	c.(121-123)gaG>gaA	p.E41E	HES7_ENST00000541682.2_Silent_p.E41E			Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	41	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				mesoderm development (GO:0007498)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|post-anal tail morphogenesis (GO:0036342)|regulation of somitogenesis (GO:0014807)|rhythmic process (GO:0048511)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)										CCCGGGTCCGCTCCAGCAGCA	0.662													C|||	702	0.140176	0.0068	0.2709	5008	,	,		14642	0.375		0.0437	False		,,,				2504	0.0849				p.E41E		.											.	HES7-658	0			c.G123A						.	C	,	53,3827		1,51,1888	10	13	12		123,123	4.3	1	17	dbSNP_129	12	332,7902		8,316,3793	no	coding-synonymous,coding-synonymous	HES7	NM_001165967.1,NM_032580.3	,	9,367,5681	TT,TC,CC		4.0321,1.366,3.1781	,	41/231,41/226	8026364	385,11729	1940	4117	6057	SO:0001819	synonymous_variant	84667	exon2			GGTCCGCTCCAGC	AB049064	CCDS42258.1, CCDS54085.1	17p13.1	2013-10-17	2013-10-17			ENSG00000179111		"Basic helix-loop-helix proteins"	15977	protein-coding gene	gene with protein product	"bHLH factor Hes7"	608059	"hairy and enhancer of split 7 (Drosophila)"			11260262	Standard	NM_032580		Approved	bHLHb37	uc002gkb.2	Q9BYE0		ENST00000317814.4:c.123G>A	17.37:g.8026364C>T		Somatic	283	2		WXS	Illumina GAIIx	Phase_I	148	7	NM_001165967	0	0	0	0	0	F8VPC9	Silent	SNP	ENST00000317814.4	37	CCDS42258.1																																																																																			C|0.854;T|0.146		0.662	HES7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441479.1	NM_032580		T	8026364	C	T	8026364	2	4	16	1	0	0	0	0	0	0	0	1	7098	796	28	3		3	HES7	17	8026364	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	3333022	8026364	73168846	81	3351											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29533326	29533326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacttcgaaatatgttTggtgaaacacttcataaagc	8	6	1	2			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:29533326T>C	ENST00000358273.4	+	12	1712	c.1329T>C	c.(1327-1329)ttT>ttC	p.F443F	NF1_ENST00000356175.3_Silent_p.F443F|NF1_ENST00000431387.4_Silent_p.F443F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	443					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAATATGTTTGGTGAAACAC	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.F443F		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.T1329C						.						236	213	221					17																	29533326		2203	4300	6503	SO:0001819	synonymous_variant	4763	exon12	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	TATGTTTGGTGAA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1329T>C	17.37:g.29533326T>C		Somatic	222	0		WXS	Illumina GAIIx	Phase_I	189	106	NM_001128147	0	0	0	4	4	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																			.		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29533326	T	C	29533326	2	2	16	1	0	0	0	0	0	0	0	1	10395	1809	63	4		4	NF1	17	29533326	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	21506962	29533326	51661884	82	3352											
RARA	5914	bcgsc.ca	37	chr17	38508263	38508287	+	Frame_Shift_Del	DEL	GTGCGCAAAGCGCACCAGGAAACCT	GTGCGCAAAGCGCACCAGGAAACCT	-													tgggggagctcattgagaagGtgcgcaaagcgcaccaggaa					rs113014668		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	GTGCGCAAAGCGCACCAGGAAACCT	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:38508263_38508287delGTGCGCAAAGCGCACCAGGAAACCT	ENST00000254066.5	+	5	1026_1050	c.571_595delGTGCGCAAAGCGCACCAGGAAACCT	c.(571-597)gtgcgcaaagcgcaccaggaaaccttcfs	p.VRKAHQETF191fs	RARA_ENST00000394081.3_Frame_Shift_Del_p.VRKAHQETF186fs|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Frame_Shift_Del_p.VRKAHQETF191fs|RARA_ENST00000425707.3_Frame_Shift_Del_p.VRKAHQETF94fs|RARA_ENST00000394086.3_Frame_Shift_Del_p.VRKAHQETF207fs	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	191	Hinge.				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)	CATTGAGAAGGTGCGCAAAGCGCACCAGGAAACCTTCCCTGCCCT	0.613			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																p.191_199del		.		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	.	RARA-1083	0			c.571_595del						.																																			SO:0001589	frameshift_variant	5914	exon5			GAGAAGGTGCGCA	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.571_595delGTGCGCAAAGCGCACCAGGAAACCT	17.37:g.38508263_38508287delGTGCGCAAAGCGCACCAGGAAACCT	ENSP00000254066:p.Val191fs	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	19	5	NM_000964	0	0	0	0	0	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Frame_Shift_Del	DEL	ENST00000254066.5	37	CCDS11366.1																																																																																			.		0.613	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			-	38508287	GTGCGCAAAGCGCACCAGGAAACCT	-	38508263	7	5	16	1	0	1	0	1	0	0	0	0	13097	1261	44	0	752	0	RARA	17	38508263	Frame_Shift_Del	DEL	GTGCGCAAAGCGCACCAGGAAACCT	TCGA-OR-A5JK-01A-11D-A29I-10	8974937	38508263	42686947	83	3353											
KRT39	390792	bcgsc.ca	37	chr17	39116728	39116728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcgagcctctgtctccGttaggatgcactcttgggaa	12	10	3	0	rs17843021	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:39116728G>A	ENST00000355612.2	-	6	1057	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	341	Coil 2.|Rod.		T -> M (in dbSNP:rs17843021).			intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTCTGTCTCCGTTAGGATGCA	0.493													G|||	585	0.116813	0.1452	0.0548	5008	,	,		18259	0.1399		0.1322	False		,,,				2504	0.0828				p.T341M		.											.	.	0			c.C1022T						.	G	MET/THR	630,3776	274.0+/-271.7	53,524,1626	137	135	135		1022	-1.1	0	17	dbSNP_123	135	1136,7456	235.1+/-267.8	71,994,3231	yes	missense	KRT39	NM_213656.3	81	124,1518,4857	AA,AG,GG		13.2216,14.2987,13.5867	possibly-damaging	341/492	39116728	1766,11232	2203	4296	6499	SO:0001583	missense	390792	exon6			GTCTCCGTTAGGA	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1022C>T	17.37:g.39116728G>A	ENSP00000347823:p.Thr341Met	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	98	5	NM_213656	0	0	0	0	0	B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	CCDS11382.1	273	0.125	69	0.1402439024390244	29	0.08011049723756906	75	0.13111888111888112	100	0.13192612137203166	G	6.273	0.418486	0.11870	0.142987	0.132216	ENSG00000196859	ENST00000355612	D	0.89050	-2.46	5.81	-1.12	0.09808	Filament (1);	1.437790	0.04585	N	0.395707	T	0.03651	0.0104	M	0.64170	1.965	0.80722	P	0.0	P	0.41947	0.766	B	0.37239	0.244	T	0.51655	-0.8678	9	0.62326	D	0.03	.	4.6774	0.12719	0.2521:0.0:0.3101:0.4378	rs17843021;rs17843021	341	Q6A163	K1C39_HUMAN	M	341	ENSP00000347823:T341M	ENSP00000347823:T341M	T	-	2	0	KRT39	36370254	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.117000	0.10708	-0.383000	0.07858	-0.218000	0.12543	ACG	G|0.868;A|0.132		0.493	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		A	39116728	G	A	39116728	3	1	16	1	0	0	0	0	1	0	0	0	8503	1145	40	1	461	1	KRT39	17	39116728	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	608465	39116728	42078482	84	3354											
ASB16	92591	bcgsc.ca	37	chr17	42248346	42248346	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagacccagctgtccaccaAgccctcttctccggcaacct	7	19	2	1	rs7218599	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:42248346A>T	ENST00000293414.1	+	1	273	c.189A>T	c.(187-189)caA>caT	p.Q63H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	63				Q -> H (in Ref. 1; BAB70800/BAG37167 and 3; AAH75088). {ECO:0000305}.	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)		CTGTCCACCAAGCCCTCTTCT	0.652													T|||	4640	0.926518	0.9917	0.928	5008	,	,		15715	0.9881		0.8539	False		,,,				2504	0.8487				p.Q63H		.											.	ASB16-227	0			c.A189T						.	T	HIS/GLN	4290,116	82.9+/-121.4	2093,104,6	30	29	29		189	3.1	1	17	dbSNP_116	29	7396,1204	234.4+/-267.4	3180,1036,84	yes	missense	ASB16	NM_080863.4	24	5273,1140,90	TT,TA,AA		14.0,2.6328,10.1492	benign	63/454	42248346	11686,1320	2203	4300	6503	SO:0001583	missense	92591	exon1			CCACCAAGCCCTC	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.189A>T	17.37:g.42248346A>T	ENSP00000293414:p.Gln63His	Somatic	201	1		WXS	Illumina GAIIx	Phase_I	132	5	NM_080863	0	0	0	0	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	2034	0.9313186813186813	486	0.9878048780487805	329	0.9088397790055248	562	0.9825174825174825	657	0.866754617414248	T	13.83	2.353447	0.41700	0.973672	0.86	ENSG00000161664	ENST00000293414	T	0.53206	0.63	5.26	3.06	0.35304	Ankyrin repeat-containing domain (2);	0.181260	0.56097	N	0.000022	T	0.00012	0.0000	N	0.22421	0.69	0.54753	P	1.0999999999983245E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.32214	-0.9915	9	0.15066	T	0.55	0.0078	4.0728	0.09891	0.1422:0.2311:0.0:0.6267	rs7218599;rs7218599	63	Q96NS5	ASB16_HUMAN	H	63	ENSP00000293414:Q63H	ENSP00000293414:Q63H	Q	+	3	2	ASB16	39603872	0.886000	0.30341	0.987000	0.45799	0.833000	0.47200	-0.067000	0.11579	0.128000	0.18479	-0.364000	0.07487	CAA	A|0.093;T|0.907		0.652	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			T	42248346	A	T	42248346	3	4	16	1	0	0	0	0	1	0	0	0	1021	69	3	5	191	5	ASB16	17	42248346	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	3131618	42248346	38946864	85	3355											
FOXJ1	2302	hgsc.bcm.edu	37	chr17	74133974	74133974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcctcggtattcacCgtcagcggcccggcccgggg	16	15	2	0	rs894542	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091				p.T242T		.											.	FOXJ1-227	0			c.G726A						.	C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302	exon3			ATTCACCGTCAGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_001454	0	0	0	0	0	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																			C|0.925;T|0.075		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	16	1	0	0	0	0	0	0	0	1	6035	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	31885628	74133974	7061236	86	3356											
SYT4	6860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	40854213	40854213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggttttcagggtaaatatCaactcccttaagcacatgca	7	9	2	0	rs368892366		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr18:40854213C>T	ENST00000255224.3	-	2	549	c.181G>A	c.(181-183)Gat>Aat	p.D61N	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.D43N	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	61					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGTAAATATCAACTCCCTTA	0.383																																					p.D61N	NSCLC(85;81 1419 2855 22820 35912)	.											.	SYT4-132	0			c.G181A						.	C	ASN/ASP	0,4406		0,0,2203	86	82	83		181	5.9	1	18		83	1,8597		0,1,4298	no	missense	SYT4	NM_020783.3	23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	61/426	40854213	1,13003	2203	4299	6502	SO:0001583	missense	6860	exon2			AAATATCAACTCC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.181G>A	18.37:g.40854213C>T	ENSP00000255224:p.Asp61Asn	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	64	15	NM_020783	0	0	0	0	0	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008075	0.75046	0.0	1.16E-4	ENSG00000132872	ENST00000255224	T	0.37915	1.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.54344	-0.8308	10	0.46703	T	0.11	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	43;61	B4DEU3;Q9H2B2	.;SYT4_HUMAN	N	61	ENSP00000255224:D61N	ENSP00000255224:D61N	D	-	1	0	SYT4	39108211	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.373000	0.79623	2.937000	0.99478	0.650000	0.86243	GAT	.		0.383	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		T	40854213	C	T	40854213	3	4	16	1	0	0	0	0	1	0	0	0	15523	826	29	3	1108	3	SYT4	18	40854213	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10		40854213	37223035	87	3357											
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4217956	4217956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcggggccgggcAgccagtctggagcaggaggt	20	10	1	0	rs6510794	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000318934.4_Silent_p.A933A|ANKRD24_ENST00000262970.5_Silent_p.A1023A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3	6	5		2799	0.3	1	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_133475	0	0	1	1	0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4217956	A	G	4217956	2	3	16	1	0	0	0	0	0	0	0	1	653	175	7	4		4	ANKRD24	19	4217956	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10		4217956	54911027	88	3358											
MUC16	94025	broad.mit.edu;bcgsc.ca	37	chr19	9049512	9049512	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggctattgaaggtgtggcatCtgattcatgatgagaaaaat	12	4	2	4			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:9049512C>G	ENST00000397910.4	-	5	32322	c.32119G>C	c.(32119-32121)Gat>Cat	p.D10707H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10709	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						GGTGTGGCATCTGATTCATGA	0.478																																					p.D10707H		.											.	MUC16-566	0			c.G32119C						.						231	211	217					19																	9049512		1988	4163	6151	SO:0001583	missense	94025	exon5			TGGCATCTGATTC	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.32119G>C	19.37:g.9049512C>G	ENSP00000381008:p.Asp10707His	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	251	7	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.132	-0.178309	0.06380	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	2.49	-1.42	0.08913	.	.	.	.	.	T	0.05410	0.0143	N	0.19112	0.55	.	.	.	D	0.62365	0.991	D	0.66847	0.947	T	0.38067	-0.9678	8	0.87932	D	0	.	1.298	0.02073	0.2207:0.4222:0.2162:0.1409	.	10707	B5ME49	.	H	10707	ENSP00000381008:D10707H	ENSP00000381008:D10707H	D	-	1	0	MUC16	8910512	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.146000	0.10250	-0.190000	0.10465	-0.530000	0.04314	GAT	.		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9049512	C	G	9049512	3	3	16	1	0	0	0	0	1	0	0	0	10011	913	32	3	11724	3	MUC16	19	9049512	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	4831556	9049512	50079471	89	3359											
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccgagcgcacgctggcctCtgtgtgcgccctgctggtgt	15	15	1	0	rs17710707	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5	5	5		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	39	15	NM_018174	0	0	2	2	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		G	17837425	C	G	17837425	3	3	16	1	0	0	0	0	1	0	0	0	9272	913	32	3	1250	3	MAP1S	19	17837425	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	8787913	17837425	41291558	90	3360											
FCHO1	23149	bcgsc.ca	37	chr19	17885270	17885270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccggcgggagcgggagccAgagccacctgcagctgtgtg	18	12	0	1	rs2287859	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:17885270A>G	ENST00000596536.1	+	13	1186	c.903A>G	c.(901-903)ccA>ccG	p.P301P	FCHO1_ENST00000595033.1_Silent_p.P251P|FCHO1_ENST00000596951.1_Silent_p.P301P|FCHO1_ENST00000594202.1_Silent_p.P301P|FCHO1_ENST00000597512.1_Silent_p.P308P|FCHO1_ENST00000539407.1_Silent_p.P301P|FCHO1_ENST00000389133.4_Silent_p.P301P|FCHO1_ENST00000600676.1_Silent_p.P301P|FCHO1_ENST00000252771.7_Silent_p.P301P	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	301	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGCGGGAGCCAGAGCCACCTG	0.647													G|||	2978	0.594649	0.5772	0.5937	5008	,	,		16879	0.8254		0.4056	False		,,,				2504	0.5757				p.P301P		.											.	FCHO1-90	0			c.A903G						.	G	,,,	2455,1951	537.5+/-374.7	687,1081,435	34	39	37		903,903,753,903	-6.4	0.1	19	dbSNP_100	37	3523,5075	621.9+/-397.2	750,2023,1526	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FCHO1	NM_001161357.1,NM_001161358.1,NM_001161359.1,NM_015122.2	,,,	1437,3104,1961	GG,GA,AA		40.9746,44.2805,45.9705	,,,	301/892,301/890,251/840,301/890	17885270	5978,7026	2203	4299	6502	SO:0001819	synonymous_variant	23149	exon12			GGAGCCAGAGCCA	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.903A>G	19.37:g.17885270A>G		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	118	6	NM_001161358	0	0	0	0	0	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	CCDS32955.1																																																																																			A|0.495;G|0.505		0.647	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		G	17885270	A	G	17885270	2	3	16	1	0	0	0	0	0	0	0	1	5809	175	7	4		4	FCHO1	19	17885270	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	47845	17885270	41243713	91	3361											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P|SARS2_ENST00000448145.2_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	22	6	NM_148169	0	0	0	2	2	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	16	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	21555648	39440918	19688065	92	3362											
MYBPC2	4606	bcgsc.ca	37	chr19	50957397	50957397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaaggtcaccaaccccGtcggcgaggacgtggcttcc	11	16	2	0	rs25665	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:50957397G>A	ENST00000357701.5	+	17	1921	c.1870G>A	c.(1870-1872)Gtc>Atc	p.V624I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	624	Ig-like C2-type 5.		V -> I (in dbSNP:rs25665).		cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CACCAACCCCGTCGGCGAGGA	0.632													g|||	1184	0.236422	0.034	0.2824	5008	,	,		18456	0.3829		0.2515	False		,,,				2504	0.3108				p.V624I		.											.	MYBPC2-67	0			c.G1870A						.	G	ILE/VAL	263,3941		7,249,1846	34	38	37		1870	-0.5	0	19	dbSNP_72	37	1778,6626		196,1386,2620	yes	missense	MYBPC2	NM_004533.3	29	203,1635,4466	AA,AG,GG		21.1566,6.2559,16.1881	benign	624/1142	50957397	2041,10567	2102	4202	6304	SO:0001583	missense	4606	exon17			AACCCCGTCGGCG		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1870G>A	19.37:g.50957397G>A	ENSP00000350332:p.Val624Ile	Somatic	311	1		WXS	Illumina GAIIx	Phase_I	327	8	NM_004533	0	0	0	0	0	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	526	0.24084249084249085	19	0.03861788617886179	91	0.2513812154696133	228	0.3986013986013986	188	0.24802110817941952	g	9.583	1.124179	0.20959	0.062559	0.211566	ENSG00000086967	ENST00000357701	T	0.68181	-0.31	3.26	-0.485	0.12067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	15.483300	0.02223	U	0.064183	T	0.00012	0.0000	L	0.58810	1.83	0.80722	P	0.0	B	0.20052	0.041	B	0.17098	0.017	T	0.15723	-1.0427	9	0.20519	T	0.43	.	3.9465	0.09350	0.0969:0.1597:0.579:0.1645	rs25665;rs2230838;rs2272322;rs12978290;rs17804237;rs52823468;rs25665	624	Q14324	MYPC2_HUMAN	I	624	ENSP00000350332:V624I	ENSP00000350332:V624I	V	+	1	0	MYBPC2	55649209	0.007000	0.16637	0.010000	0.14722	0.324000	0.28378	1.574000	0.36482	-0.057000	0.13199	-0.555000	0.04198	GTC	G|0.772;A|0.228		0.632	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50957397	G	A	50957397	3	1	16	1	0	0	0	0	1	0	0	0	10050	1145	40	1	1936	1	MYBPC2	19	50957397	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	11516479	50957397	8171586	93	3363											
ZNF160	90338	bcgsc.ca	37	chr19	53572917	53572917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacagtaaaggttttgccGcactcactgcatttgtaagg	10	9	1	0	rs10407463	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:53572917G>A	ENST00000429604.1	-	7	1285	c.870C>T	c.(868-870)tgC>tgT	p.C290C	ZNF160_ENST00000599056.1_Silent_p.C290C|ZNF160_ENST00000601421.1_Silent_p.C254C|ZNF160_ENST00000418871.1_Silent_p.C290C	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	290					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGGTTTTGCCGCACTCACTGC	0.408													g|||	694	0.138578	0.2511	0.1167	5008	,	,		21331	0.0526		0.1481	False		,,,				2504	0.0808				p.C290C		.											.	ZNF160-90	0			c.C870T						.	A	,,	997,3409	371.2+/-319.9	114,769,1320	150	142	144		870,870,870	-2.9	0	19	dbSNP_119	144	1342,7258	262.4+/-284.4	104,1134,3062	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF160	NM_001102603.1,NM_033288.3,NM_198893.2	,,	218,1903,4382	AA,AG,GG		15.6047,22.6282,17.984	,,	290/819,290/819,290/819	53572917	2339,10667	2203	4300	6503	SO:0001819	synonymous_variant	90338	exon7			TTTGCCGCACTCA	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.870C>T	19.37:g.53572917G>A		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	189	8	NM_001102603	0	0	3	3	0	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																			G|0.843;A|0.157		0.408	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		A	53572917	G	A	53572917	2	1	16	1	0	0	0	0	0	0	0	1	17787	1079	38	1		1	ZNF160	19	53572917	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	2615520	53572917	5556066	94	3364											
LILRB2	10288	bcgsc.ca	37	chr19	54782919	54782919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctttccccaggggccaCgacaggacccggctgcactg	13	16	0	0	rs386056	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:54782919C>T	ENST00000391749.4	-	6	974	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	LILRB2_ENST00000391746.1_Missense_Mutation_p.V235M|LILRB2_ENST00000314446.5_Missense_Mutation_p.V235M|LILRB2_ENST00000391748.1_Missense_Mutation_p.V235M|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.V119M	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	235	Ig-like C2-type 3.		V -> M (in dbSNP:rs386056).		cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGGCCACGACAGGACCC	0.577													.|||	1261	0.251797	0.1256	0.2392	5008	,	,		16650	0.6052		0.173	False		,,,				2504	0.1483				p.V235M		.											.	LILRB2-91	0			c.G703A						.	C	MET/VAL,MET/VAL	676,3730	285.2+/-278.0	42,592,1569	93	94	94		703,703	-3.9	0	19	dbSNP_80	94	1563,7037	293.8+/-301.5	155,1253,2892	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	21,21	197,1845,4461	TT,TC,CC		18.1744,15.3427,17.2151	benign,benign	235/598,235/599	54782919	2239,10767	2203	4300	6503	SO:0001583	missense	10288	exon6			GGGCCACGACAGG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.703G>A	19.37:g.54782919C>T	ENSP00000375629:p.Val235Met	Somatic	476	6		WXS	Illumina GAIIx	Phase_I	411	11	NM_005874	0	0	2	2	0	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	729	0.33379120879120877	71	0.1443089430894309	93	0.2569060773480663	426	0.7447552447552448	139	0.18337730870712401	C	11.86	1.765440	0.31228	0.153427	0.181744	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	2.44	-3.93	0.04143	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.090410	0.02456	N	0.086115	T	0.00012	0.0000	M	0.92169	3.28	0.80722	P	0.0	P;B;B	0.43352	0.804;0.443;0.42	B;B;B	0.43809	0.432;0.432;0.199	T	0.52298	-0.8594	9	0.54805	T	0.06	.	10.3378	0.43860	0.0:0.2758:0.7242:0.0	rs386056	235;252;235	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	M	235;235;235;235;119	ENSP00000375628:V235M;ENSP00000319960:V235M;ENSP00000375629:V235M;ENSP00000375626:V235M;ENSP00000410117:V119M	ENSP00000319960:V235M	V	-	1	0	LILRB2	59474731	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	-0.385000	0.07379	-0.189000	0.10482	-0.535000	0.04281	GTG	C|0.787;T|0.213		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54782919	C	T	54782919	3	4	16	1	0	0	0	0	1	0	0	0	8820	536	19	1	1129	1	LILRB2	19	54782919	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	1210002	54782919	4346064	95	3365											
ZNF814	730051	ucsc.edu	37	chr19	58384445	58384445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcactgcactcataAggcttttctccagtgtgaat	6	12	3	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr19:58384445A>G	ENST00000435989.2	-	3	2547	c.2313T>C	c.(2311-2313)ccT>ccC	p.P771P	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	771					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGCACTCATAAGGCTTTTCTC	0.403																																					p.P771P		.											.	.	0			c.T2313C						.						72	60	64					19																	58384445		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			CTCATAAGGCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2313T>C	19.37:g.58384445A>G		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	82	2	NM_001144989	0	0	6	7	1	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384445	A	G	58384445	2	3	16	1	0	0	0	0	0	0	0	1	18224	59	3	4		4	ZNF814	19	58384445	Silent	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10	3601526	58384445	744538	96	3366											
ANGPT4	51378	bcgsc.ca	37	chr20	854940	854940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctacctccagacatcacTtgggcacacttgcagagaca	7	15	1	2	rs944110	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:854940T>C	ENST00000381922.3	-	8	1440	c.1338A>G	c.(1336-1338)caA>caG	p.Q446Q	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	446	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGACATCACTTGGGCACACT	0.612													C|||	2569	0.512979	0.5227	0.4337	5008	,	,		21990	0.6905		0.3191	False		,,,				2504	0.5726				p.Q446Q	Pancreas(181;481 2077 3259 31286 49856)	.											.	ANGPT4-92	0			c.A1338G						.	C		2205,2201	588.4+/-386.9	537,1131,535	107	81	90		1338	4.2	1	20	dbSNP_86	90	2879,5721	672.1+/-402.9	491,1897,1912	no	coding-synonymous	ANGPT4	NM_015985.2		1028,3028,2447	CC,CT,TT		33.4767,49.9546,39.0897		446/504	854940	5084,7922	2203	4300	6503	SO:0001819	synonymous_variant	51378	exon8			CATCACTTGGGCA	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1338A>G	20.37:g.854940T>C		Somatic	271	0		WXS	Illumina GAIIx	Phase_I	286	8	NM_015985	0	0	0	0	0	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																			T|0.549;C|0.451		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		C	854940	T	C	854940	2	2	16	1	0	0	0	0	0	0	0	1	612	1606	56	4		4	ANGPT4	20	854940	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10		854940	62170580	97	3367											
LRRN4	164312	hgsc.bcm.edu	37	chr20	6033025	6033025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcagcgcgggcccggTgcacggcggcagagcggcca	18	15	1	1	rs1884643	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:6033025T>C	ENST00000378858.4	-	2	645	c.421A>G	c.(421-423)Acc>Gcc	p.T141A		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	141			T -> A (in dbSNP:rs1884643).		long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCGGGCCCGGTGCACGGCGGC	0.776													C|||	1964	0.392173	0.5257	0.4265	5008	,	,		11757	0.4306		0.2495	False		,,,				2504	0.2945				p.T141A		.											.	LRRN4-93	0			c.A421G						.	C	ALA/THR	561,1475		45,471,502	2	2	2		421	-5.9	0	20	dbSNP_92	2	909,4281		72,765,1758	no	missense	LRRN4	NM_152611.3	58	117,1236,2260	CC,CT,TT		17.5145,27.554,20.3432	benign	141/741	6033025	1470,5756	1018	2595	3613	SO:0001583	missense	164312	exon2			GCCCGGTGCACGG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.421A>G	20.37:g.6033025T>C	ENSP00000368135:p.Thr141Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_152611	0	0	0	0	0	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	CCDS13097.1	842	0.38553113553113555	259	0.5264227642276422	154	0.425414364640884	241	0.42132867132867136	188	0.24802110817941952	C	0.016	-1.511817	0.00984	0.27554	0.175145	ENSG00000125872	ENST00000378858	T	0.55413	0.52	5.16	-5.88	0.02290	.	0.935551	0.08855	N	0.883870	T	0.00012	0.0000	N	0.04686	-0.185	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.41538	-0.9503	9	0.02654	T	1	-7.2124	1.4288	0.02329	0.2344:0.2431:0.3275:0.195	rs1884643;rs59237991	141;141	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	A	141	ENSP00000368135:T141A	ENSP00000368135:T141A	T	-	1	0	LRRN4	5981025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.236000	0.02925	-0.947000	0.03673	-1.428000	0.01097	ACC	T|0.614;C|0.386		0.776	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		C	6033025	T	C	6033025	3	2	16	1	0	0	0	0	1	0	0	0	9072	1696	59	4	1817	4	LRRN4	20	6033025	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	5178085	6033025	56992495	98	3368											
MYLK2	85366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	30414412	30414412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccctggtccccaggaaaTggtgttgctggagattgagg	14	9	0	2			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:30414412T>C	ENST00000375994.2	+	6	1250	c.977T>C	c.(976-978)aTg>aCg	p.M326T	MYLK2_ENST00000375985.4_Missense_Mutation_p.M326T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCCAGGAAATGGTGTTGCTG	0.572																																					p.M326T		.											.	MYLK2-760	0			c.T977C						.						113	85	94					20																	30414412		2203	4300	6503	SO:0001583	missense	85366	exon7			AGGAAATGGTGTT	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.977T>C	20.37:g.30414412T>C	ENSP00000365162:p.Met326Thr	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	163	59	NM_033118	0	0	0	0	0	Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	9.554	1.116661	0.20795	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.63913	-0.07;-0.07	3.55	3.55	0.40652	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	0.35364	0.0929	N	0.03608	-0.345	0.41555	D	0.988598	B	0.13594	0.008	B	0.23150	0.044	T	0.15150	-1.0447	9	0.30078	T	0.28	.	7.3426	0.26646	0.1955:0.0:0.0:0.8045	.	326	Q9H1R3	MYLK2_HUMAN	T	326	ENSP00000365162:M326T;ENSP00000365152:M326T	ENSP00000365152:M326T	M	+	2	0	MYLK2	29878073	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	2.577000	0.46042	1.485000	0.48380	0.358000	0.22013	ATG	.		0.572	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		C	30414412	T	C	30414412	3	2	16	1	0	0	0	0	1	0	0	0	10095	1464	51	4	999	4	MYLK2	20	30414412	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	24381387	30414412	32611108	99	3369											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_052951	0	0	0	0	0	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	16	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	14006270	44420682	18604838	100	3370											
MMP9	4318	broad.mit.edu;bcgsc.ca	37	chr20	44641917	44641917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccctgaacctgagccaCggcctccaaccaccaccaca	6	21	0	2	rs368282794		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:44641917C>T	ENST00000372330.3	+	9	1373	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	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)	452					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)	ACCTGAGCCACGGCCTCCAAC	0.642											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R452W		.											.	MMP9-652	0			c.C1354T						.	C	TRP/ARG	1,4393		0,1,2196	64	83	76		1354	0.3	0	20		76	0,8570		0,0,4285	no	missense	MMP9	NM_004994.2	101	0,1,6481	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	452/708	44641917	1,12963	2197	4285	6482	SO:0001583	missense	4318	exon9			GAGCCACGGCCTC		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.1354C>T	20.37:g.44641917C>T	ENSP00000361405:p.Arg452Trp	Somatic	90	0	925	WXS	Illumina GAIIx	Phase_I	88	5	NM_004994	0	0	0	0	0	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657714	0.14645	2.28E-4	0.0	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.21191	2.02	4.76	0.262	0.15597	.	1.820200	0.02694	N	0.110951	T	0.16685	0.0401	L	0.38175	1.15	0.09310	N	1	P	0.51537	0.946	B	0.36666	0.23	T	0.40608	-0.9554	10	0.66056	D	0.02	.	8.228	0.31582	0.4783:0.4048:0.1169:0.0	.	452	P14780	MMP9_HUMAN	W	452;97	ENSP00000361405:R452W	ENSP00000361405:R452W	R	+	1	2	MMP9	44075324	0.000000	0.05858	0.023000	0.16930	0.055000	0.15305	-0.066000	0.11598	0.515000	0.28320	0.655000	0.94253	CGG	.		0.642	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			T	44641917	C	T	44641917	3	4	16	1	0	0	0	0	1	0	0	0	9707	527	19	1	1388	1	MMP9	20	44641917	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	221235	44641917	18383603	101	3371											
CASS4	57091	bcgsc.ca	37	chr20	55033420	55033420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccctcttatacctcagCcttcgagtcaacagactcct	6	16	3	1	rs35031530	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr20:55033420C>T	ENST00000360314.3	+	7	2203	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Missense_Mutation_p.P660S|CASS4_ENST00000434344.1_Missense_Mutation_p.P223S	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	660			P -> S (in dbSNP:rs35031530). {ECO:0000269|PubMed:14702039}.		cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TATACCTCAGCCTTCGAGTCA	0.507													C|||	735	0.146765	0.3086	0.0403	5008	,	,		13987	0.2381		0.004	False		,,,				2504	0.0562				p.P660S		.											.	CASS4-25	0			c.C1978T						.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1094,3312	372.0+/-320.2	134,826,1243	51	57	55		1816,667,1978,1978	-2.6	0	20	dbSNP_126	55	33,8567	22.2+/-67.0	0,33,4267	yes	missense,missense,missense,missense	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	74,74,74,74	134,859,5510	TT,TC,CC		0.3837,24.8298,8.6652	benign,benign,benign,benign	606/733,223/350,660/787,660/787	55033420	1127,11879	2203	4300	6503	SO:0001583	missense	57091	exon6			CCTCAGCCTTCGA	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1978C>T	20.37:g.55033420C>T	ENSP00000353462:p.Pro660Ser	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	107	5	NM_020356	0	0	1	1	0	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	297	0.13598901098901098	135	0.27439024390243905	12	0.03314917127071823	148	0.25874125874125875	2	0.002638522427440633	C	8.848	0.943837	0.18281	0.248298	0.003837	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.20738	2.05;2.05;2.05	5.65	-2.58	0.06228	CAS family, DUF3513 (1);	1.567350	0.02946	N	0.141079	T	0.00012	0.0000	N	0.11560	0.145	0.80722	P	0.0	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.003;0.004;0.008	T	0.41052	-0.9530	9	0.18276	T	0.48	-1.3722	0.1155	0.00060	0.2771:0.2108:0.1786:0.3335	rs35031530;rs57004305	606;223;660	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	S	660;660;223	ENSP00000353462:P660S;ENSP00000360387:P660S;ENSP00000410027:P223S	ENSP00000353462:P660S	P	+	1	0	CASS4	54466827	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.416000	0.07097	-0.141000	0.11374	-0.878000	0.02970	CCT	C|0.905;T|0.095		0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55033420	C	T	55033420	3	4	16	1	0	0	0	0	1	0	0	0	2690	739	26	3	2000	3	CASS4	20	55033420	Missense_Mutation	SNP	C	TCGA-OR-A5JK-01A-11D-A29I-10	10391503	55033420	7992100	102	3372											
PRODH	5625	bcgsc.ca	37	chr22	18912678	18912678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggtccccgaaggcccAgtgggcctggtattgcttgt	14	13	0	0	rs386819653|rs4819756	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr22:18912678A>G	ENST00000357068.6	-	4	818	c.553T>C	c.(553-555)Tgg>Cgg	p.W185R	PRODH_ENST00000334029.2_Missense_Mutation_p.W77R|PRODH_ENST00000420436.1_Missense_Mutation_p.W77R	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	185			R -> Q (no effect on enzymatic activity).|R -> W (moderate reduction of enzymatic activity; dbSNP:rs4819756).		4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CCGAAGGCCCAGTGGGCCTGG	0.592													.|||	3911	0.78095	0.916	0.6715	5008	,	,		18594	0.9712		0.5567	False		,,,				2504	0.7106				p.W185R		.											.	PRODH-289	0			c.T553C	GRCh37	CM057554	PRODH	M	rs4819756	.		ARG/TRP,ARG/TRP	3798,608		1646,506,51	104	104	104		229,553	2.9	0.2	22	dbSNP_111	104	4967,3633		1455,2057,788	yes	missense,missense	PRODH	NM_001195226.1,NM_016335.4	101,101	3101,2563,839	GG,GA,AA		42.2442,13.7994,32.608	probably-damaging,probably-damaging	77/493,185/601	18912678	8765,4241	2203	4300	6503	SO:0001583	missense	5625	exon5			AGGCCCAGTGGGC	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.553T>C	22.37:g.18912678A>G	ENSP00000349577:p.Trp185Arg	Somatic	232	1		WXS	Illumina GAIIx	Phase_I	161	6	NM_016335	0	0	0	0	0	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	1621|1621	0.7422161172161172|0.7422161172161172	429|429	0.8719512195121951|0.8719512195121951	235|235	0.649171270718232|0.649171270718232	552|552	0.965034965034965|0.965034965034965	405|405	0.5343007915567283|0.5343007915567283	.|.	0.065|0.065	-1.215883|-1.215883	0.01542|0.01542	0.862006|0.862006	0.577558|0.577558	ENSG00000100033|ENSG00000100033	ENST00000457083|ENST00000357068;ENST00000438924;ENST00000450579	.|T;T	.|0.75260	.|-0.92;-0.92	5.03|5.03	2.88|2.88	0.33553|0.33553	.|.	.|0.520350	.|0.20347	.|N	.|0.094139	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.47476|0.47476	P|P	5.610000000000337E-4|5.610000000000337E-4	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.32402|0.32402	-0.9908|-0.9908	3|8	.|0.15952	.|T	.|0.53	0.0658|0.0658	6.4381|6.4381	0.21835|0.21835	0.1618:0.0:0.6925:0.1458|0.1618:0.0:0.6925:0.1458	rs4819756;rs58835750;rs4819756|rs4819756;rs58835750;rs4819756	.|77	.|E7EQL6	.|.	P|R	108|185;67;26	.|ENSP00000349577:W185R;ENSP00000396806:W26R	.|ENSP00000334726:W77R	L|W	-|-	2|1	0|0	PRODH|PRODH	17292678|17292678	0.975000|0.975000	0.34042|0.34042	0.234000|0.234000	0.24042|0.24042	0.007000|0.007000	0.05969|0.05969	3.683000|3.683000	0.54663|0.54663	0.250000|0.250000	0.21479|0.21479	-1.516000|-1.516000	0.00938|0.00938	CTG|TGG	A|0.284;G|0.716		0.592	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		G	18912678	A	G	18912678	3	3	16	1	0	0	0	0	1	0	0	0	12590	188	7	4	1293	4	PRODH	22	18912678	Missense_Mutation	SNP	A	TCGA-OR-A5JK-01A-11D-A29I-10		18912678	32391888	103	3373											
MMP11	4320	bcgsc.ca	37	chr22	24124623	24124623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccgcagggccactgactGgagaggggtgccctctgaga	16	13	1	3			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr22:24124623G>T	ENST00000215743.3	+	7	1338	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	AP000349.1_ENST00000598975.1_Missense_Mutation_p.P199Q	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	429					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GCCACTGACTGGAGAGGGGTG	0.637																																					p.W429L		.											.	MMP11-291	0			c.G1286T						.						39	32	35					22																	24124623		2203	4300	6503	SO:0001583	missense	4320	exon7			CTGACTGGAGAGG		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1286G>T	22.37:g.24124623G>T	ENSP00000215743:p.Trp429Leu	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	90	4	NM_005940	0	0	8	8	0	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508413	0.85282	.	.	ENSG00000099953	ENST00000215743	T	0.33438	1.41	4.93	4.93	0.64822	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74808	-0.3539	10	0.87932	D	0	.	17.7437	0.88414	0.0:0.0:1.0:0.0	.	429	P24347	MMP11_HUMAN	L	429	ENSP00000215743:W429L	ENSP00000215743:W429L	W	+	2	0	MMP11	22454623	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	8.880000	0.92407	2.761000	0.94854	0.585000	0.79938	TGG	.		0.637	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		T	24124623	G	T	24124623	3	4	16	1	0	0	0	0	1	0	0	0	9688	1357	47	3	1312	3	MMP11	22	24124623	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	5211945	24124623	27179943	104	3374											
BPIL2	254240	bcgsc.ca	37	chr22	32810378	32810378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctttgaggatgttTcatacttcaggtcggtggaa	13	7	2	1	rs35856742	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr22:32810378T>G	ENST00000397452.1	-	16	1546	c.1436A>C	c.(1435-1437)gAa>gCa	p.E479A	BPIFC_ENST00000432451.2_Missense_Mutation_p.E236A|BPIFC_ENST00000300399.3_Missense_Mutation_p.E479A|BPIFC_ENST00000534972.1_Missense_Mutation_p.E203A|RTCB_ENST00000216038.5_5'Flank|RTCB_ENST00000451746.2_5'Flank			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	479			E -> A (in dbSNP:rs35856742).			extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGAGGATGTTTCATACTTCAG	0.493													T|||	296	0.0591054	0.1233	0.0303	5008	,	,		18467	0.0139		0.0527	False		,,,				2504	0.046				p.E479A		.											.	.	0			c.A1436C						.	T	ALA/GLU	496,3910	230.4+/-244.6	35,426,1742	144	123	130		1436	4.3	0.8	22	dbSNP_126	130	372,8228	122.2+/-181.2	15,342,3943	yes	missense	BPIFC	NM_174932.2	107	50,768,5685	GG,GT,TT		4.3256,11.2574,6.6738	benign	479/508	32810378	868,12138	2203	4300	6503	SO:0001583	missense	254240	exon15			GATGTTTCATACT	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1436A>C	22.37:g.32810378T>G	ENSP00000380594:p.Glu479Ala	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	173	6	NM_174932	0	0	0	0	0	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	129	0.059065934065934064	68	0.13821138211382114	12	0.03314917127071823	4	0.006993006993006993	45	0.059366754617414245	T	14.93	2.681075	0.47886	0.112574	0.043256	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.04917	3.53;3.53;4.28;3.97	5.39	4.29	0.51040	.	0.550764	0.20116	N	0.098913	T	0.00039	0.0001	M	0.68317	2.08	0.80722	P	0.0	B;P	0.35745	0.047;0.518	B;B	0.30401	0.014;0.115	T	0.18967	-1.0320	9	0.10111	T	0.7	-2.8015	9.7286	0.40348	0.0:0.0:0.1729:0.8271	rs35856742	236;479	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	A	479;479;203;236	ENSP00000380594:E479A;ENSP00000300399:E479A;ENSP00000439123:E203A;ENSP00000408920:E236A	ENSP00000300399:E479A	E	-	2	0	BPIFC	31140378	0.939000	0.31865	0.819000	0.32651	0.995000	0.86356	1.613000	0.36900	2.167000	0.68274	0.460000	0.39030	GAA	T|0.936;G|0.064		0.493	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		G	32810378	T	G	32810378	3	3	16	1	0	0	0	0	1	0	0	0	1496	1783	62	5	91	5	BPIL2	22	32810378	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	8685755	32810378	18494188	105	3375											
PKDREJ	10343	bcgsc.ca	37	chr22	46656246	46656246	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacctccctaagcactgTgctgtccacttgaaagctaa	7	13	0	2	rs7291444	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chr22:46656246T>G	ENST00000253255.5	-	1	2973	c.2974A>C	c.(2974-2976)Aca>Cca	p.T992P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	992			T -> P (in dbSNP:rs7291444).		acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTAAGCACTGTGCTGTCCACT	0.507													T|||	1065	0.21266	0.5575	0.1297	5008	,	,		21694	0.001		0.16	False		,,,				2504	0.0777				p.T992P		.											.	PKDREJ-156	0			c.A2974C						.	T	PRO/THR	2031,2375	562.8+/-381.0	571,889,743	147	140	142		2974	-1.3	0	22	dbSNP_116	142	1254,7346	251.0+/-277.6	88,1078,3134	yes	missense	PKDREJ	NM_006071.1	38	659,1967,3877	GG,GT,TT		14.5814,46.0962,25.2576	benign	992/2254	46656246	3285,9721	2203	4300	6503	SO:0001583	missense	10343	exon1			GCACTGTGCTGTC	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2974A>C	22.37:g.46656246T>G	ENSP00000253255:p.Thr992Pro	Somatic	267	3		WXS	Illumina GAIIx	Phase_I	191	7	NM_006071	0	0	0	0	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	449	0.20558608058608058	281	0.5711382113821138	55	0.15193370165745856	0	0.0	113	0.14907651715039577	T	9.836	1.189664	0.21954	0.460962	0.145814	ENSG00000130943	ENST00000253255	T	0.36340	1.26	4.65	-1.26	0.09376	.	1.107710	0.06788	N	0.786461	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.20368	0.044	B	0.16722	0.016	T	0.47355	-0.9124	9	0.30078	T	0.28	0.8913	5.6541	0.17633	0.0:0.2993:0.1343:0.5664	rs7291444;rs52836498;rs57430542;rs7291444	992	Q9NTG1	PKDRE_HUMAN	P	992	ENSP00000253255:T992P	ENSP00000253255:T992P	T	-	1	0	PKDREJ	45034910	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-1.782000	0.01772	-0.425000	0.07371	0.533000	0.62120	ACA	A|0.001;G|0.248;T|0.751		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46656246	T	G	46656246	3	3	16	1	0	0	0	0	1	0	0	0	12009	1696	59	5	3791	5	PKDREJ	22	46656246	Missense_Mutation	SNP	T	TCGA-OR-A5JK-01A-11D-A29I-10	13845868	46656246	4648320	106	3376											
FAM48B1	100130302	bcgsc.ca;mdanderson.org	37	chrX	24382453	24382453	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgctctagctgctgctGctgctcctgctctagctgct	9	16	2	0	rs112697166		TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chrX:24382453G>C								AC004552.1 (15430 upstream) : PDK3 (100884 downstream)																							agctgctgctgctgctcctgc	0.627																																					p.A526P		.											.	.	0			c.G1576C						.						2	2	2					X																	24382453		966	2386	3352	SO:0001628	intergenic_variant	100130302	exon1			GCTGCTGCTGCTC																													X.37:g.24382453G>C		Somatic	111	1		WXS	Illumina GAIIx	Phase_I	119	49	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				G|0.500;C|0.500	0	0.627									C	24382453	G	C	24382453	1	2	16	0	1	0	0	0	0	0	0	0	5595	1319	46	3		3	FAM48B1	23	24382453	IGR	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10		24382453	130888107	107	3377											
DCAF8L2	347442	hgsc.bcm.edu	37	chrX	27765408	27765408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagaggaggaGgaggaggaggaggaggagga	26	0	0	1			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chrX:27765408G>A	ENST00000451261.2	+	5	795	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	132	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aagaggaggaggaggaggagg	0.567																																					p.E132E		.											.	DCAF8L2-42	0			c.G396A						.						18	16	16					X																	27765408		692	1587	2279	SO:0001819	synonymous_variant	347442	exon1			GGAGGAGGAGGAG		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.396G>A	X.37:g.27765408G>A		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	22	4	NM_001136533	0	0	1	1	0	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.		0.567	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765408	G	A	27765408	2	1	16	1	0	0	0	0	0	0	0	1	4287	991	35	3		3	DCAF8L2	23	27765408	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	3382955	27765408	127505152	108	3378											
FAM155B	27112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	68725226	68725226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggccgagcgacaaaccttGcgccgactccgagcgggcgc	14	16	0	0			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chrX:68725226G>C	ENST00000252338.4	+	1	143	c.101G>C	c.(100-102)tGc>tCc	p.C34S	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	34						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACAAACCTTGCGCCGACTCC	0.682																																					p.C34S		.											.	FAM155B-131	0			c.G101C						.						10	6	7					X																	68725226		1891	3622	5513	SO:0001583	missense	27112	exon1			AACCTTGCGCCGA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.101G>C	X.37:g.68725226G>C	ENSP00000252338:p.Cys34Ser	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	55	44	NM_015686	0	0	0	0	0	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225739	0.39300	.	.	ENSG00000130054	ENST00000252338	T	0.42900	0.96	4.2	3.3	0.37823	.	0.107354	0.37219	U	0.002186	T	0.27933	0.0688	N	0.19112	0.55	0.37860	D	0.929706	B	0.18013	0.025	B	0.14023	0.01	T	0.11966	-1.0566	10	0.66056	D	0.02	-6.8838	10.8117	0.46551	0.0:0.1899:0.8101:0.0	.	34	O75949-2	.	S	34	ENSP00000252338:C34S	ENSP00000252338:C34S	C	+	2	0	FAM155B	68641951	0.983000	0.35010	1.000000	0.80357	0.946000	0.59487	0.464000	0.21988	0.577000	0.29470	0.274000	0.19336	TGC	.		0.682	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		C	68725226	G	C	68725226	3	2	16	1	0	0	0	0	1	0	0	0	5485	1319	46	3	103	3	FAM155B	23	68725226	Missense_Mutation	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	40959818	68725226	86545334	109	3379											
ANKRD58	347454	hgsc.bcm.edu	37	chrX	118892888	118892888	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgggcggctcctgcGgggtggctgtcggaggagcg	21	11	0	0	rs2782222	byFrequency	TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chrX:118892888G>C	ENST00000343905.3	+	1	313	c.258G>C	c.(256-258)gcG>gcC	p.A86A		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	86																	CGGCTCCTGCGGGGTGGCTGT	0.751													c|||	2295	0.607947	0.4735	0.4841	3775	,	,		7549	0.372		0.495	False		,,,				2504	0.4703				p.A86A		.											.	.	0			c.G258C						.			1145,466		378,253,136,67,79	1	2	2		258	2.3	0	X	dbSNP_100	2	2545,1233		737,547,524,198,290	no	coding-synonymous	ANKRD58	NM_001105576.2		1115,800,660,265,369	CC,CG,C,GG,G		32.6363,28.9261,31.5272		86/316	118892888	3690,1699	913	2296	3209	SO:0001819	synonymous_variant	347454	exon1			TCCTGCGGGGTGG		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.258G>C	X.37:g.118892888G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001105576	0	0	0	1	1		Silent	SNP	ENST00000343905.3	37	CCDS43984.1																																																																																			G|0.401;C|0.599		0.751	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		C	118892888	G	C	118892888	2	2	16	1	0	0	0	0	0	0	0	1	684	1103	39	2		2	ANKRD58	23	118892888	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	50167662	118892888	36377672	110	3380											
UTP14A	10813	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	129059084	129059084	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcccctaaggagaagaaaaaGaaggagcaaatgatcgacct	11	8	0	4			TCGA-OR-A5JK-01A-11D-A29I-10	TCGA-OR-A5JK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	30ef35e3-dbfe-4e8d-a398-fa59ec891031	9f7d2d3c-956c-4894-ba05-6349fc18bec2	g.chrX:129059084G>A	ENST00000394422.3	+	12	1690	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	UTP14A_ENST00000425117.2_Silent_p.K502K|UTP14A_ENST00000371042.3_Silent_p.K386K|UTP14A_ENST00000371051.5_Silent_p.K500K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	554					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGAAGAAAAAGAAGGAGCAAA	0.488																																					p.K554K		.											.	UTP14A-132	0			c.G1662A						.						115	105	108					X																	129059084		2203	4300	6503	SO:0001819	synonymous_variant	10813	exon12			GAAAAAGAAGGAG	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1662G>A	X.37:g.129059084G>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	70	5	NM_006649	0	0	12	12	0	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	CCDS14615.1																																																																																			.		0.488	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		A	129059084	G	A	129059084	2	1	16	1	0	0	0	0	0	0	0	1	17144	933	33	3		3	UTP14A	23	129059084	Silent	SNP	G	TCGA-OR-A5JK-01A-11D-A29I-10	10166196	129059084	26211476	111	3381											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_003132	0	0	0	22	22	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	17	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10		11119899	238130722	1	3382											
AKR7L	246181	hgsc.bcm.edu	37	chr1	19600479	19600501	+	RNA	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-													tccaggaaggcgcgcgtgacTgcggcgctggtgggcgcgtc					rs573930529	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000429712.1	-	0	187_209				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						CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722														155	0.0309505	0	0.0202	5008	,	,		16736	0.0476		0.0288	False		,,,				2504	0.0654				.		.											.	AKR7L-90	0			.						.			8,4132		1,6,2063						1	0			23	91,7993		9,73,3960	no	intergenic				10,79,6023	A1A1,A1R,RR		1.1257,0.1932,0.8099				99,12125						246181	.			CGTGACTGCGGCG			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.19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	62	19	.	0	0	0	0	0	Q5U614	RNA	DEL	ENST00000429712.1	37																																																																																				.		0.722	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		-	19600501	TGCGGCGCTGGTGGGCGCGTCCA	-	19600479	6	5	17	0	1	1	0	1	0	0	0	0	477	1567	55	0		0	AKR7L	1	19600479	RNA	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TCGA-OR-A5JL-01A-11D-A29I-10	8480580	19600479	229650142	2	3383											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374162.2_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	17	1	0	0	0	0	0	0	0	1	13695	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	7255983	26856462	222394159	3	3384											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	17	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	2282513	29138975	220111646	4	3385											
AGL	178	bcgsc.ca	37	chr1	100358103	100358103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgccctaatggatgtaCcttataggttaaatgagatc	8	9	0	1	rs3753494	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:100358103C>T	ENST00000294724.4	+	24	3677	c.3199C>T	c.(3199-3201)Cct>Tct	p.P1067S	AGL_ENST00000370163.3_Missense_Mutation_p.P1067S|AGL_ENST00000370161.2_Missense_Mutation_p.P1051S|AGL_ENST00000361522.4_Missense_Mutation_p.P1050S|AGL_ENST00000361915.3_Missense_Mutation_p.P1067S|AGL_ENST00000361302.3_Missense_Mutation_p.P1051S|AGL_ENST00000370165.3_Missense_Mutation_p.P1067S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1067			P -> S (in dbSNP:rs3753494).		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)		AATGGATGTACCTTATAGGTT	0.378													C|||	554	0.110623	0.1203	0.0951	5008	,	,		15854	0.0278		0.1551	False		,,,				2504	0.1483				p.P1067S		.											.	AGL-92	0			c.C3199T						.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	557,3849	249.0+/-256.6	36,485,1682	99	94	96		3199,3199,3199,3199,3148,3151	5.2	0.4	1	dbSNP_107	96	1257,7343	251.5+/-278.0	96,1065,3139	yes	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	74,74,74,74,74,74	132,1550,4821	TT,TC,CC		14.6163,12.6419,13.9474	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1067/1533,1067/1533,1067/1533,1067/1533,1050/1516,1051/1517	100358103	1814,11192	2203	4300	6503	SO:0001583	missense	178	exon24			GATGTACCTTATA	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.3199C>T	1.37:g.100358103C>T	ENSP00000294724:p.Pro1067Ser	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	112	6	NM_000644	0	0	5	5	0	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	237	0.10851648351648352	69	0.1402439024390244	43	0.11878453038674033	13	0.022727272727272728	112	0.14775725593667546	C	13.10	2.137783	0.37728	0.126419	0.146163	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74947	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.89	5.2	5.2	0.72013	.	0.111526	0.64402	D	0.000006	T	0.66703	0.2816	M	0.67953	2.075	0.09310	P	0.999999999670201	B;B;B	0.26318	0.12;0.12;0.146	B;B;B	0.29353	0.047;0.047;0.101	T	0.66460	-0.5918	9	0.37606	T	0.19	.	19.1022	0.93277	0.0:1.0:0.0:0.0	rs3753494;rs17449932;rs52793848;rs56862711;rs3753494	1050;1051;1067	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	1067;1067;1067;1067;1051;1051;1050	ENSP00000355106:P1067S;ENSP00000359184:P1067S;ENSP00000359182:P1067S;ENSP00000294724:P1067S;ENSP00000354971:P1051S;ENSP00000359180:P1051S;ENSP00000354635:P1050S	ENSP00000294724:P1067S	P	+	1	0	AGL	100130691	1.000000	0.71417	0.412000	0.26496	0.008000	0.06430	7.230000	0.78097	2.553000	0.86117	0.573000	0.79308	CCT	C|0.869;T|0.131		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		T	100358103	C	T	100358103	3	4	17	1	0	0	0	0	1	0	0	0	384	507	18	3	3358	3	AGL	1	100358103	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	71219128	100358103	148892518	5	3386											
CHIA	27159	bcgsc.ca	37	chr1	111861974	111861974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcttaagcacaacaaatTtggaggcgccatggtctggg	13	8	1	0	rs2275254	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:111861974T>C	ENST00000369740.1	+	11	1164	c.1061T>C	c.(1060-1062)tTt>tCt	p.F354S	CHIA_ENST00000353665.6_Missense_Mutation_p.F193S|CHIA_ENST00000343320.6_Missense_Mutation_p.F354S|CHIA_ENST00000451398.2_Missense_Mutation_p.F193S|CHIA_ENST00000483391.1_Missense_Mutation_p.F193S|CHIA_ENST00000430615.1_Missense_Mutation_p.F246S|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	354			F -> S (in dbSNP:rs2275254). {ECO:0000269|PubMed:19435888}.		apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACAACAAATTTGGAGGCGCC	0.502													T|||	2215	0.442292	0.3154	0.3098	5008	,	,		19337	0.38		0.5954	False		,,,				2504	0.6145				p.F354S		.											.	CHIA-91	0			c.T1061C						.	T	SER/PHE,SER/PHE	1541,2865	484.0+/-359.9	262,1017,924	84	78	80		737,1061	3.8	0.6	1	dbSNP_100	80	4956,3644	623.4+/-397.5	1446,2064,790	yes	missense,missense	CHIA	NM_021797.2,NM_201653.2	155,155	1708,3081,1714	CC,CT,TT		42.3721,34.975,49.9539	probably-damaging,probably-damaging	246/369,354/477	111861974	6497,6509	2203	4300	6503	SO:0001583	missense	27159	exon11			ACAAATTTGGAGG	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.1061T>C	1.37:g.111861974T>C	ENSP00000358755:p.Phe354Ser	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	155	5	NM_201653	0	0	3	3	0	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	943	0.4317765567765568	152	0.3089430894308943	136	0.3756906077348066	187	0.3269230769230769	468	0.6174142480211082	T	14.39	2.521585	0.44866	0.34975	0.576279	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4;3.4;3.4	4.96	3.8	0.43715	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.417964	0.20116	N	0.098901	T	0.19248	0.0462	M	0.92122	3.275	0.30347	P	0.785122	D	0.89917	1.0	D	0.85130	0.997	T	0.12268	-1.0554	9	0.66056	D	0.02	-7.9225	9.3552	0.38161	0.1605:0.0:0.0:0.8395	rs2275254;rs17718176;rs52821641;rs58142838;rs2275254	354	Q9BZP6	CHIA_HUMAN	S	298;193;354;354;193;193;193;246	ENSP00000387671:F298S;ENSP00000436946:F193S;ENSP00000358755:F354S;ENSP00000341828:F354S;ENSP00000390476:F193S;ENSP00000338970:F193S;ENSP00000433309:F193S;ENSP00000391132:F246S	ENSP00000341828:F354S	F	+	2	0	CHIA	111663497	1.000000	0.71417	0.620000	0.29132	0.296000	0.27459	3.465000	0.53064	0.796000	0.33947	0.533000	0.62120	TTT	T|0.537;C|0.463		0.502	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			C	111861974	T	C	111861974	3	2	17	1	0	0	0	0	1	0	0	0	3349	1841	64	4	1099	4	CHIA	1	111861974	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	11503871	111861974	137388647	6	3387											
THEM4	117145	hgsc.bcm.edu	37	chr1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcctactggcggcAggcacagagcccccagcgtg	16	16	0	1	rs3748805	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1	1	1					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_053055	0	0	0	2	2	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		C	151881885	A	C	151881885	3	2	17	1	0	0	0	0	1	0	0	0	15905	188	7	5	696	5	THEM4	1	151881885	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	40019911	151881885	97368736	7	3388											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	17	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	27169415	179051300	70199321	8	3389											
C1orf106	55765	bcgsc.ca	37	chr1	200878026	200878026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcctggaccacccctAtgagaagcccaggaagtctt	9	14	1	1	rs41313912	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:200878026A>T	ENST00000367342.4	+	7	1198	c.998A>T	c.(997-999)tAt>tTt	p.Y333F	C1orf106_ENST00000413687.2_Missense_Mutation_p.Y248F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	333	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GACCACCCCTATGAGAAGCCC	0.632													A|||	19	0.00379393	8e-04	0.0043	5008	,	,		16132	0		0.0139	False		,,,				2504	0.001				p.Y347F		.											.	C1orf106-93	0			c.A1040T						.	A	PHE/TYR,PHE/TYR	15,4389		0,15,2187	29	32	31		743,998	5.2	1	1	dbSNP_127	31	102,8494		0,102,4196	yes	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	22,22	0,117,6383	TT,TA,AA		1.1866,0.3406,0.9	probably-damaging,probably-damaging	248/579,333/664	200878026	117,12883	2202	4298	6500	SO:0001583	missense	55765	exon7			ACCCCTATGAGAA	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.998A>T	1.37:g.200878026A>T	ENSP00000356311:p.Tyr333Phe	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	133	5	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		13	0.005952380952380952	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	9	0.011873350923482849	A	19.42	3.824420	0.71143	0.003406	0.011866	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.68025	-0.3;-0.27	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.73690	0.3619	M	0.71581	2.175	0.43351	D	0.99541	D	0.63880	0.993	D	0.72625	0.978	T	0.78809	-0.2058	10	0.56958	D	0.05	-31.5498	12.5324	0.56122	1.0:0.0:0.0:0.0	rs41313912	333	Q3KP66	CA106_HUMAN	F	333;248	ENSP00000356311:Y333F;ENSP00000392105:Y248F	ENSP00000356311:Y333F	Y	+	2	0	C1orf106	199144649	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.002000	0.76304	1.942000	0.56320	0.460000	0.39030	TAT	A|0.992;T|0.008		0.632	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200878026	A	T	200878026	3	4	17	1	0	0	0	0	1	0	0	0	1987	449	16	5	1024	5	C1orf106	1	200878026	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	21826726	200878026	48372595	9	3390											
PLXNA2	5362	broad.mit.edu	37	chr1	208390763	208390763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcgcacaatcaccccgtAcatggtgcccgtcttgttga	10	13	2	2			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr1:208390763A>G	ENST00000367033.3	-	2	1262	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATCACCCCGTACATGGTGCCC	0.587																																					p.Y169H		.											.	PLXNA2-92	0			c.T505C						.						168	169	168					1																	208390763		2203	4300	6503	SO:0001583	missense	5362	exon2			CCCCGTACATGGT	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.505T>C	1.37:g.208390763A>G	ENSP00000356000:p.Tyr169His	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	98	4	NM_025179	0	0	0	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643889	0.29246	.	.	ENSG00000076356	ENST00000367033	T	0.10960	2.82	5.71	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.170176	0.41500	D	0.000864	T	0.28962	0.0719	M	0.66939	2.045	0.58432	D	0.999995	D;D	0.69078	0.997;0.985	D;P	0.72982	0.979;0.854	T	0.00953	-1.1502	10	0.59425	D	0.04	.	11.5225	0.50560	0.714:0.2859:0.0:0.0	.	223;169	O75051-2;O75051	.;PLXA2_HUMAN	H	169	ENSP00000356000:Y169H	ENSP00000356000:Y169H	Y	-	1	0	PLXNA2	206457386	1.000000	0.71417	0.989000	0.46669	0.522000	0.34438	6.993000	0.76245	0.943000	0.37553	0.460000	0.39030	TAC	.		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208390763	A	G	208390763	3	3	17	1	0	0	0	0	1	0	0	0	12159	391	14	4	5303	4	PLXNA2	1	208390763	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	7512737	208390763	40859858	10	3391											
SDC1	6382	hgsc.bcm.edu	37	chr2	20403998	20403998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatagccgtcaggagctgcGtgtccttccaagtggagggg	16	9	1	0	rs141315088	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:20403998G>A	ENST00000254351.4	-	3	447	c.203C>T	c.(202-204)aCg>aTg	p.T68M	SDC1_ENST00000381150.1_Missense_Mutation_p.T68M|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.T68M	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	68					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGGAGCTGCGTGTCCTTCCA	0.632													g|||	26	0.00519169	0	0.013	5008	,	,		15015	0.004		0.003	False		,,,				2504	0.0102				p.T68M		.											.	SDC1-95	0			c.C203T						.		MET/THR,MET/THR	1,4401		0,1,2200	91	99	96		203,203	-9	0	2	dbSNP_134	96	24,8572		0,24,4274	yes	missense,missense	SDC1	NM_001006946.1,NM_002997.4	81,81	0,25,6474	AA,AG,GG		0.2792,0.0227,0.1923	benign,benign	68/311,68/311	20403998	25,12973	2201	4298	6499	SO:0001583	missense	6382	exon3			AGCTGCGTGTCCT	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.203C>T	2.37:g.20403998G>A	ENSP00000254351:p.Thr68Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_002997	0	0	18	18	0	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	1	0.0017482517482517483	2	0.002638522427440633	g	4.794	0.147658	0.09134	2.27E-4	0.002792	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.35605	2.12;2.12;1.32;1.3	4.52	-9.04	0.00734	.	1.649880	0.03028	N	0.151650	T	0.09992	0.0245	N	0.02011	-0.69	0.09310	N	1	B;B	0.21753	0.06;0.007	B;B	0.16722	0.016;0.011	T	0.37526	-0.9702	10	0.87932	D	0	0.3402	9.9701	0.41749	0.3539:0.0:0.5378:0.1083	.	68;68	E9PHH3;P18827	.;SDC1_HUMAN	M	68;68;68;76	ENSP00000254351:T68M;ENSP00000370542:T68M;ENSP00000384613:T68M;ENSP00000400773:T76M	ENSP00000254351:T68M	T	-	2	0	SDC1	20267479	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.582000	0.05814	-2.058000	0.00895	-2.058000	0.00401	ACG	G|0.997;A|0.003		0.632	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		A	20403998	G	A	20403998	3	1	17	1	0	0	0	0	1	0	0	0	13996	1145	40	1	741	1	SDC1	2	20403998	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		20403998	222795375	11	3392											
ADCY3	109	bcgsc.ca	37	chr2	25046090	25046090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacagagtcaaaatcTgagatgatttcattgaggaa	9	7	4	4	rs1127568	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:25046090T>C	ENST00000260600.5	-	17	3722	c.2871A>G	c.(2869-2871)tcA>tcG	p.S957S	ADCY3_ENST00000405392.1_Silent_p.S544S|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	957					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGTCAAAATCTGAGATGATTT	0.502													C|||	3462	0.691294	0.5295	0.7695	5008	,	,		20373	0.879		0.668	False		,,,				2504	0.6851				p.S957S		.											.	ADCY3-94	0			c.A2871G						.	C		2405,2001	561.5+/-380.7	642,1121,440	102	87	92		2871	-8.2	0.7	2	dbSNP_86	92	5729,2871	450.6+/-362.4	1927,1875,498	no	coding-synonymous	ADCY3	NM_004036.3		2569,2996,938	CC,CT,TT		33.3837,45.4153,37.4596		957/1145	25046090	8134,4872	2203	4300	6503	SO:0001819	synonymous_variant	109	exon17			AAAATCTGAGATG	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2871A>G	2.37:g.25046090T>C		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	128	7	NM_004036	0	0	0	0	0	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																			T|0.343;C|0.656		0.502	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			C	25046090	T	C	25046090	2	2	17	1	0	0	0	0	0	0	0	1	295	1567	55	4		4	ADCY3	2	25046090	Silent	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	4642092	25046090	218153283	12	3393											
KHK	3795	broad.mit.edu	37	chr2	27317364	27317364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgtcctggatgacctcCgccgctattctgtggaccta	10	12	1	1	rs201995559		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:27317364C>T	ENST00000260599.6	+	3	742	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	77					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)					GGATGACCTCCGCCGCTATTC	0.597																																					p.R77C		.											.	KHK-115	0			c.C229T						.	C	CYS/ARG,	0,4406		0,0,2203	87	86	87		229,	5.6	1	2		87	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron	KHK	NM_000221.2,NM_006488.2	180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	77/299,	27317364	2,13004	2203	4300	6503	SO:0001583	missense	3795	exon3			GACCTCCGCCGCT		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.229C>T	2.37:g.27317364C>T	ENSP00000260599:p.Arg77Cys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_000221	0	0	8	8	0	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418243	0.62622	0.0	2.33E-4	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.77750	-1.12;-1.12	5.63	5.63	0.86233	Carbohydrate/purine kinase (1);	0.245199	0.37761	N	0.001949	T	0.79052	0.4381	L	0.51422	1.61	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.48952	0.596;0.596	T	0.78902	-0.2021	10	0.42905	T	0.14	-9.1514	17.1653	0.86814	0.0:1.0:0.0:0.0	.	77;77	Q6IBK2;P50053	.;KHK_HUMAN	C	77	ENSP00000260599:R77C;ENSP00000404741:R77C	ENSP00000260599:R77C	R	+	1	0	KHK	27170868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.414000	0.52693	2.649000	0.89929	0.561000	0.74099	CGC	.		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			T	27317364	C	T	27317364	3	4	17	1	0	0	0	0	1	0	0	0	8176	652	23	1	239	1	KHK	2	27317364	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	2271274	27317364	215882009	13	3394											
CD8B	926	hgsc.bcm.edu	37	chr2	87088950	87088950	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcgccgccgccttacctgtCagctgcgcggccaagaggag	14	16	1	1	rs539876702		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:87088950C>T	ENST00000390655.6	-	1	97	c.39G>A	c.(37-39)ctG>ctA	p.L13L	CD8B_ENST00000431506.2_Silent_p.L13L|CD8B_ENST00000331469.2_Silent_p.L13L|AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000349455.3_Silent_p.L13L|CD8B_ENST00000393759.2_Silent_p.L13L|CD8B_ENST00000393761.2_Silent_p.L13L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	13					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTACCTGTCAGCTGCGCGG	0.756													C|||	1	0.000199681	0	0	5008	,	,		7376	0.001		0	False		,,,				2504	0				p.L13L		.											.	CD8B-92	0			c.G39A						.						1	1	1					2																	87088950		670	1778	2448	SO:0001819	synonymous_variant	926	exon1			ACCTGTCAGCTGC		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.39G>A	2.37:g.87088950C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			.		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		T	87088950	C	T	87088950	2	4	17	1	0	0	0	0	0	0	0	1	3052	813	29	3		3	CD8B	2	87088950	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	59771586	87088950	156110423	14	3395											
RNF149	284996	hgsc.bcm.edu	37	chr2	101925026	101925026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgcgagccccgacgcTggcttcgcgccgccgccacg	13	21	0	0	rs11123868	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:101925026T>C	ENST00000295317.3	-	1	132	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	9			S -> G (in dbSNP:rs11123868). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCCCCGACGCTGGCTTCGCGC	0.726													C|||	2397	0.478634	0.7678	0.4582	5008	,	,		13525	0.3175		0.3917	False		,,,				2504	0.3579				p.S9G	Colon(25;331 612 6521 7355 31028)	.											.	RNF149-290	0			c.A25G						.	C	GLY/SER	1794,1350		547,700,325	4	6	5		25	-2.5	0	2	dbSNP_120	5	2382,4344		496,1390,1477	no	missense	RNF149	NM_173647.3	56	1043,2090,1802	CC,CT,TT		35.4148,42.9389,42.31	benign	9/401	101925026	4176,5694	1572	3363	4935	SO:0001583	missense	284996	exon1			CGACGCTGGCTTC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.25A>G	2.37:g.101925026T>C	ENSP00000295317:p.Ser9Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_173647	0	0	0	1	1	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	1023	0.4684065934065934	378	0.7682926829268293	162	0.44751381215469616	189	0.3304195804195804	294	0.38786279683377306	C	1.566	-0.535355	0.04082	0.570611	0.354148	ENSG00000163162	ENST00000295317	T	0.08634	3.07	3.96	-2.45	0.06481	.	4.553570	0.01792	N	0.032390	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	0.16896	T	0.51	.	7.6769	0.28490	0.0:0.1603:0.4369:0.4028	rs11123868;rs17856944;rs56755384	9	Q8NC42	RN149_HUMAN	G	9	ENSP00000295317:S9G	ENSP00000295317:S9G	S	-	1	0	RNF149	101291458	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.581000	0.05820	-0.783000	0.04534	-0.374000	0.07098	AGC	T|0.543;C|0.457		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		C	101925026	T	C	101925026	3	2	17	1	0	0	0	0	1	0	0	0	13495	1580	55	4	1205	4	RNF149	2	101925026	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	14836076	101925026	141274347	15	3396											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	17	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	8447166	110372192	132827181	16	3397											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	125521361	125521361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttggagaattggtcccttgCgttgctatggtgaccgtgag	14	8	0	3			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr2:125521361C>G	ENST00000431078.1	+	15	2708	c.2344C>G	c.(2344-2346)Cgt>Ggt	p.R782G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	782	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		TGGTCCCTTGCGTTGCTATGG	0.453																																					p.R782G		.											.	CNTNAP5-524	0			c.C2344G						.						81	77	78					2																	125521361		1894	4114	6008	SO:0001583	missense	129684	exon15			CCCTTGCGTTGCT	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.2344C>G	2.37:g.125521361C>G	ENSP00000399013:p.Arg782Gly	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	82	11	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923826	0.73213	.	.	ENSG00000155052	ENST00000431078	T	0.13538	2.58	5.57	5.57	0.84162	.	0.121470	0.37261	N	0.002169	T	0.31295	0.0792	M	0.88105	2.93	0.46701	D	0.999166	P	0.48407	0.91	P	0.45753	0.492	T	0.19160	-1.0314	10	0.38643	T	0.18	.	18.9255	0.92541	0.0:1.0:0.0:0.0	.	782	Q8WYK1	CNTP5_HUMAN	G	782	ENSP00000399013:R782G	ENSP00000399013:R782G	R	+	1	0	CNTNAP5	125237831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	2.804000	0.96469	0.655000	0.94253	CGT	.		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125521361	C	G	125521361	3	3	17	1	0	0	0	0	1	0	0	0	3657	768	27	2	2402	2	CNTNAP5	2	125521361	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	15149169	125521361	117678012	17	3398											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	17	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		66550762	131471668	18	3399											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388867	1388867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgtggagtgcccgcctgAtcacacgtgcccatgtggag	13	13	1	1	rs76058011	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:1388867A>C	ENST00000324803.4	+	1	3528	c.568A>C	c.(568-570)Atc>Ctc	p.I190L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	190					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCGCCTGATCACACGTGC	0.662													N|||	145	0.0289537	0.0174	0.0447	5008	,	,		14453	0.0099		0.0586	False		,,,				2504	0.0225				p.I190L		.											.	CRIPAK-90	0			c.A568C						.						246	170	197					4																	1388867		2172	3827	5999	SO:0001583	missense	285464	exon1			CGCCTGATCACAC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.568A>C	4.37:g.1388867A>C	ENSP00000323978:p.Ile190Leu	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	106	15	NM_175918	0	0	0	33	33	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	4.910	0.169067	0.09339	.	.	ENSG00000179979	ENST00000324803	T	0.19394	2.15	1.25	-1.56	0.08532	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.10636	T	0.68	.	0.5937	0.00732	0.3976:0.2382:0.1983:0.1659	.	190	Q8N1N5	CRPAK_HUMAN	L	190	ENSP00000323978:I190L	ENSP00000323978:I190L	I	+	1	0	CRIPAK	1378867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.558000	0.00923	-1.849000	0.01171	-2.030000	0.00424	ATC	A|0.994;C|0.006		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388867	A	C	1388867	3	2	17	1	0	0	0	0	1	0	0	0	3884	333	12	5	570	5	CRIPAK	4	1388867	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10		1388867	189765409	19	3400											
C4orf44	345222	hgsc.bcm.edu	37	chr4	3250964	3250964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccatggtgcgtggggcCgggccggggccctcgctgag	19	15	0	1	rs371508114	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:3250964C>A	ENST00000438480.2	+	1	1762	c.15C>A	c.(13-15)gcC>gcA	p.A5A	MSANTD1_ENST00000510580.1_Silent_p.A5A|MSANTD1_ENST00000507492.1_Intron	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	5										endometrium(1)|lung(2)	3						TGCGTGGGGCCGGGCCGGGGC	0.697													C|||	6	0.00119808	8e-04	0.0014	5008	,	,		11218	0		0.004	False		,,,				2504	0				p.A5A		.											.	.	0			c.C15A						.						1	2	1					4																	3250964		1044	2255	3299	SO:0001819	synonymous_variant	345222	exon1			TGGGGCCGGGCCG		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.15C>A	4.37:g.3250964C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	6	NM_001042690	0	0	0	0	0	C9J6V0	Silent	SNP	ENST00000438480.2	37	CCDS47003.1																																																																																			.		0.697	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		A	3250964	C	A	3250964	2	1	17	1	0	0	0	0	0	0	0	1	2279	639	23	2		2	C4orf44	4	3250964	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	1862097	3250964	187903312	20	3401											
SOD3	6649	hgsc.bcm.edu	37	chr4	24801354	24801354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagccgtcggccacgCtggacgccgcgcagccccgg	16	17	0	0	rs8192291	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:24801354C>T	ENST00000382120.3	+	2	416	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	71					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GTCGGCCACGCTGGACGCCGC	0.726													C|||	994	0.198482	0.0968	0.1585	5008	,	,		11823	0.3512		0.2028	False		,,,				2504	0.2025				p.L71L		.											.	SOD3-90	0			c.C211T						.	C		341,3293		12,317,1488	4	5	5		211	0.7	0	4	dbSNP_117	5	1103,6325		63,977,2674	no	coding-synonymous	SOD3	NM_003102.2		75,1294,4162	TT,TC,CC		14.8492,9.3836,13.0537		71/241	24801354	1444,9618	1817	3714	5531	SO:0001819	synonymous_variant	6649	exon2			GCCACGCTGGACG		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.211C>T	4.37:g.24801354C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	18	NM_003102	0	0	0	2	2	Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	CCDS3430.1																																																																																			C|0.777;T|0.223		0.726	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			T	24801354	C	T	24801354	2	4	17	1	0	0	0	0	0	0	0	1	14967	796	28	3		3	SOD3	4	24801354	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	21550390	24801354	166352922	21	3402											
TMEM165	55858	hgsc.bcm.edu	37	chr4	56262374	56262374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcggccgcggctccAgggaacggccgcgcatcggc	19	14	0	0	rs1128141	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:56262374A>G	ENST00000381334.5	+	1	251	c.18A>G	c.(16-18)ccA>ccG	p.P6P	SRD5A3-AS1_ENST00000599135.1_RNA|SRD5A3-AS1_ENST00000601433.1_RNA|SRD5A3-AS1_ENST00000592823.1_RNA|SRD5A3-AS1_ENST00000598819.1_RNA|TMEM165_ENST00000506198.1_Silent_p.P6P|TMEM165_ENST00000542052.1_5'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	6					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CCGCGGCTCCAGGGAACGGCC	0.751													a|||	3782	0.755192	0.8654	0.7176	5008	,	,		8141	0.6776		0.6511	False		,,,				2504	0.82				p.P6P		.											.	TMEM165-514	0			c.A18G						.						1	2	2					4																	56262374		1230	2885	4115	SO:0001819	synonymous_variant	55858	exon1			GGCTCCAGGGAAC	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.18A>G	4.37:g.56262374A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_018475	0	0	2	4	2	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	CCDS3499.1																																																																																			T|0.293;G|0.003		0.751	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		G	56262374	A	G	56262374	2	3	17	1	0	0	0	0	0	0	0	1	16127	175	7	4		4	TMEM165	4	56262374	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	31461020	56262374	134891902	22	3403											
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77662231	77662231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcccacgtggggctgCggagccccgaggcgtcggcc	17	17	0	0	rs3733245	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:77662231C>T	ENST00000296043.6	+	5	3858	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	969	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			CGTGGGGCTGCGGAGCCCCGA	0.771													C|||	42	0.00838658	0	0	5008	,	,		10024	0.0387		0	False		,,,				2504	0.0031				p.R969W		.											.	SHROOM3-93	0			c.C2905T						.						3	4	4					4																	77662231		1781	3493	5274	SO:0001583	missense	57619	exon5			GGGCTGCGGAGCC	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.2905C>T	4.37:g.77662231C>T	ENSP00000296043:p.Arg969Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	25	0.011446886446886446	2	0.0040650406504065045	0	0.0	21	0.03671328671328671	2	0.002638522427440633	C	13.09	2.133589	0.37630	.	.	ENSG00000138771	ENST00000296043	T	0.45668	0.89	4.86	-0.812	0.10853	Apx/shroom, ASD1 (2);	0.781690	0.11064	N	0.603680	T	0.08268	0.0206	L	0.43701	1.375	0.34023	D	0.652879	B;B;B	0.29232	0.128;0.238;0.128	B;B;B	0.25614	0.046;0.062;0.046	T	0.26224	-1.0109	10	0.56958	D	0.05	-9.0468	6.8401	0.23957	0.398:0.4442:0.0:0.1577	rs3733245	793;969;747	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	969	ENSP00000296043:R969W	ENSP00000296043:R969W	R	+	1	2	SHROOM3	77881255	0.966000	0.33281	0.795000	0.32087	0.612000	0.37316	0.270000	0.18607	0.087000	0.17167	0.563000	0.77884	CGG	G|0.989;A|0.011		0.771	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77662231	C	T	77662231	3	4	17	1	0	0	0	0	1	0	0	0	14340	759	27	1	2923	1	SHROOM3	4	77662231	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	21399857	77662231	113492045	23	3404											
COQ2	27235	hgsc.bcm.edu	37	chr4	84205872	84205872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacgccagtgccaCagcccgcaggccccgcgcga	13	20	0	0	rs6818847	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:84205872C>A	ENST00000311469.4	-	1	195	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	COQ2_ENST00000439031.2_Missense_Mutation_p.V29L|COQ2_ENST00000311461.7_Missense_Mutation_p.V16L	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	16					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GCCAGTGCCACAGCCCGCAGG	0.766													C|||	3254	0.64976	0.3775	0.647	5008	,	,		9689	0.8879		0.7227	False		,,,				2504	0.6994				p.V66L		.											.	COQ2-92	0			c.G196T						.	C	LEU/VAL	1570,1290		474,622,334	2	3	3		196	-2.7	0	4	dbSNP_116	3	4779,1627		1892,995,316	no	missense	COQ2	NM_015697.7	32	2366,1617,650	AA,AC,CC		25.3981,45.1049,31.4807	benign	66/422	84205872	6349,2917	1430	3203	4633	SO:0001583	missense	27235	exon1			GTGCCACAGCCCG		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.196G>T	4.37:g.84205872C>A	ENSP00000310873:p.Val66Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	1475	0.6753663003663004	219	0.4451219512195122	244	0.6740331491712708	490	0.8566433566433567	522	0.6886543535620053	C	5.506	0.278257	0.10403	0.548951	0.746019	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	T;T;T	0.77098	-1.07;-1.03;-1.0	3.59	-2.74	0.05932	.	2.205390	0.02429	N	0.083323	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	8	0.07813	T	0.8	-2.056	4.7989	0.13287	0.0:0.2608:0.3311:0.4081	rs6818847;rs17850399;rs17858544	16	E2QRG7	.	L	66;29;16	ENSP00000310873:V66L;ENSP00000409275:V29L;ENSP00000311835:V16L	ENSP00000311835:V16L	V	-	1	0	COQ2	84424896	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.921000	0.01569	-0.746000	0.04766	0.467000	0.42956	GTG	C|0.324;A|0.676		0.766	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		A	84205872	C	A	84205872	3	1	17	1	0	0	0	0	1	0	0	0	3752	478	17	3	1097	3	COQ2	4	84205872	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	6543641	84205872	106948404	24	3405											
RBM46	166863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	155720332	155720332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctaacaaagaagagagcCacccaaaaactctaggcaag	8	10	1	2			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:155720332C>T	ENST00000281722.3	+	4	1253	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	RBM46_ENST00000514866.1_Missense_Mutation_p.H340Y|RBM46_ENST00000510397.1_Missense_Mutation_p.H340Y	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	340							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGAAGAGAGCCACCCAAAAAC	0.413																																					p.H340Y		.											.	RBM46-69	0			c.C1018T						.						70	75	73					4																	155720332		2203	4300	6503	SO:0001583	missense	166863	exon4			GAGAGCCACCCAA	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1018C>T	4.37:g.155720332C>T	ENSP00000281722:p.His340Tyr	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	232	14	NM_144979	0	0	0	0	0	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	7.736	0.700231	0.15106	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15952	2.4;2.38;2.54	6.17	4.47	0.54385	.	0.351259	0.33938	N	0.004411	T	0.08714	0.0216	L	0.36672	1.1	0.09310	N	1	B;P;B	0.42078	0.0;0.77;0.0	B;B;B	0.29598	0.001;0.104;0.001	T	0.22836	-1.0205	10	0.02654	T	1	-1.4286	10.3414	0.43879	0.1233:0.798:0.0:0.0787	.	340;340;340	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	Y	340	ENSP00000424500:H340Y;ENSP00000281722:H340Y;ENSP00000422813:H340Y	ENSP00000281722:H340Y	H	+	1	0	RBM46	155939782	0.015000	0.18098	0.910000	0.35882	0.993000	0.82548	0.638000	0.24674	0.953000	0.37825	0.655000	0.94253	CAC	.		0.413	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		T	155720332	C	T	155720332	3	4	17	1	0	0	0	0	1	0	0	0	13185	594	21	3	1028	3	RBM46	4	155720332	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	71514460	155720332	35433944	25	3406											
FSTL5	56884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	162380371	162380371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgtacttacctgtagtGttggtgatgtcttctccaag	10	7	2	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr4:162380371G>A	ENST00000306100.5	-	14	2145	c.1709C>T	c.(1708-1710)aCa>aTa	p.T570I	FSTL5_ENST00000536695.1_Missense_Mutation_p.T569I|FSTL5_ENST00000427802.2_Missense_Mutation_p.T560I|FSTL5_ENST00000379164.4_Missense_Mutation_p.T569I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	570						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TACCTGTAGTGTTGGTGATGT	0.363																																					p.T570I		.											.	FSTL5-158	0			c.C1709T						.						131	120	123					4																	162380371		2203	4300	6503	SO:0001583	missense	56884	exon14			TGTAGTGTTGGTG	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1709C>T	4.37:g.162380371G>A	ENSP00000305334:p.Thr570Ile	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	119	27	NM_020116	0	0	0	0	0	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339780	0.60963	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);	0.046902	0.85682	D	0.000000	T	0.41534	0.1163	M	0.76574	2.34	0.48087	D	0.999585	B;D;B	0.55385	0.379;0.971;0.335	B;P;B	0.48677	0.07;0.586;0.071	T	0.46470	-0.9189	10	0.87932	D	0	.	18.0748	0.89424	0.0:0.0:1.0:0.0	.	560;569;570	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	570;569;560;569	ENSP00000305334:T570I;ENSP00000368462:T569I;ENSP00000389270:T560I;ENSP00000440409:T569I	ENSP00000305334:T570I	T	-	2	0	FSTL5	162599821	1.000000	0.71417	0.307000	0.25127	0.687000	0.40016	7.231000	0.78106	2.567000	0.86603	0.645000	0.84053	ACA	.		0.363	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		A	162380371	G	A	162380371	3	1	17	1	0	0	0	0	1	0	0	0	6104	1377	48	3	846	3	FSTL5	4	162380371	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	6660039	162380371	28773905	26	3407											
PDCD6	10016	hgsc.bcm.edu	37	chr5	271858	271869	+	In_Frame_Del	DEL	CCGGCCCTGGGG	CCGGCCCTGGGG	-													ggccgcctactcttaccgccCcggccctggggccggccctg					rs529816592|rs147793210|rs201564379	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	CCGGCCCTGGGG	CCGGCCCTGGGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr5:271858_271869delCCGGCCCTGGGG	ENST00000264933.4	+	1	123_134	c.23_34delCCGGCCCTGGGG	c.(22-36)cccggccctggggcc>ccc	p.GPGA9del	PDCD6_ENST00000507528.1_In_Frame_Del_p.GPGA9del|CTD-2083E4.6_ENST00000512642.1_RNA|PDCD6_ENST00000505221.1_In_Frame_Del_p.GPGA9del|PDCD6_ENST00000509581.1_In_Frame_Del_p.GPGA9del	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.A12_G15delAGPG(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			TCTTACCGCCCCGGCCCTGGGGCCGGCCCTGG	0.741														513	0.102436	0.1316	0.1657	5008	,	,		10520	0.0546		0.0905	False		,,,				2504	0.0798				p.8_12del		.											.	PDCD6-290	2	Deletion - In frame(2)	breast(2)	c.23_34del						.			265,2557		60,145,1206						2.2	1		dbSNP_126	6	779,5791		158,463,2664	no	coding	PDCD6	NM_013232.3		218,608,3870	A1A1,A1R,RR		11.8569,9.3905,11.1158				1044,8348				SO:0001651	inframe_deletion	10016	exon1			ACCGCCCCGGCCC	AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.23_34delCCGGCCCTGGGG	5.37:g.271858_271869delCCGGCCCTGGGG	ENSP00000264933:p.Gly9_Ala12del	Somatic	2	2		WXS	Illumina GAIIx	Phase_I	18	6	NM_013232	0	0	0	0	0	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	In_Frame_Del	DEL	ENST00000264933.4	37	CCDS3854.1																																																																																			.		0.741	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232		-	271869	CCGGCCCTGGGG	-	271858	7	5	17	1	0	1	0	1	0	0	0	0	11662	623	22	0	25	0	PDCD6	5	271858	In_Frame_Del	DEL	CCGGCCCTGGGG	TCGA-OR-A5JL-01A-11D-A29I-10		271858	180643402	27	3408											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	17	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	6361921	6633779	174281481	28	3409											
MSH3	4437	hgsc.bcm.edu	37	chr5	79950712	79950738	+	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-													ctggcgctgcagcggctgcaGcggccgcagcggccgcagcg					rs2431220|rs2001675|rs2405876|rs2405877|rs201874762|rs144776112|rs1574197|rs148550291|rs201906899|rs535056167|rs60484572|rs70991168|rs201149584	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr5:79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENST00000265081.6	+	1	246_272	c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	c.(166-192)gcggccgcagcggccgcagcgcccccadel	p.AAAAAAAPP56del	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	56	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		agcggctgcagcggccgcagcggccgcagcgCCCCCAGCGCCCCCAG	0.705								Mismatch excision repair (MMR)																													p.56_64del	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.166_192del						.																																			SO:0001651	inframe_deletion	4437	exon1			GCTGCAGCGGCCG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	5.37:g.79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENSP00000265081:p.Ala56_Pro64del	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	42	0	NM_002439	0	0	0	0	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	CCDS34195.1																																																																																			.		0.705	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		-	79950738	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-	79950712	7	5	17	1	0	1	0	1	0	0	0	0	9909	971	34	0	168	0	MSH3	5	79950712	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	TCGA-OR-A5JL-01A-11D-A29I-10	73316933	79950712	100964548	29	3410											
GPR98	84059	broad.mit.edu;ucsc.edu	37	chr5	89943537	89943537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttaatgaagatggtatccCggaaacagatgagccctttt	10	7	0	4			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr5:89943537C>A	ENST00000405460.2	+	17	3341	c.3245C>A	c.(3244-3246)cCg>cAg	p.P1082Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1082	Calx-beta 8. {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)		GATGGTATCCCGGAAACAGAT	0.363																																					p.P1082Q		.											.	GPR98-103	0			c.C3245A						.						119	115	116					5																	89943537		1847	4092	5939	SO:0001583	missense	84059	exon17			GTATCCCGGAAAC	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.3245C>A	5.37:g.89943537C>A	ENSP00000384582:p.Pro1082Gln	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	124	14	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560307	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.32515	1.45	5.64	5.64	0.86602	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66456	-0.5919	10	0.87932	D	0	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	1082	Q8WXG9	GPR98_HUMAN	Q	1082	ENSP00000384582:P1082Q	ENSP00000296619:P1082Q	P	+	2	0	GPR98	89979293	1.000000	0.71417	0.976000	0.42696	0.015000	0.08874	7.333000	0.79214	2.652000	0.90054	0.650000	0.86243	CCG	.		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89943537	C	A	89943537	3	1	17	1	0	0	0	0	1	0	0	0	6748	652	23	2	3311	2	GPR98	5	89943537	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	9992825	89943537	90971723	30	3411											
SAR1B	51128	bcgsc.ca	37	chr5	133945288	133945288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttttgactctaacagCctttcgtggtctgcacaatc	6	12	4	1	rs140899111	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr5:133945288C>T	ENST00000402673.2	-	5	599	c.321G>A	c.(319-321)agG>agA	p.R107R	SAR1B_ENST00000439578.1_Silent_p.R107R|SAR1B_ENST00000502539.1_Silent_p.R39R|SAR1B_ENST00000509937.1_Silent_p.R39R|SAR1B_ENST00000507419.1_Silent_p.R39R	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTAACAGCCTTTCGTGGT	0.393													C|||	4	0.000798722	0	0	5008	,	,		20631	0		0.004	False		,,,				2504	0				p.R107R		.											.	SAR1B-227	0			c.G321A						.	C	,	1,4405	2.1+/-5.4	0,1,2202	129	118	122		321,321	1.9	1	5	dbSNP_134	122	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous,coding-synonymous	SAR1B	NM_001033503.2,NM_016103.3	,	0,16,6487	TT,TC,CC		0.1744,0.0227,0.123	,	107/199,107/199	133945288	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	51128	exon6			TAACAGCCTTTCG	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.321G>A	5.37:g.133945288C>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	156	6	NM_001033503	0	0	220	220	0	D3DQA4|Q567T4	Silent	SNP	ENST00000402673.2	37	CCDS4177.1																																																																																			C|0.999;T|0.001		0.393	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		T	133945288	C	T	133945288	2	4	17	1	0	0	0	0	0	0	0	1	13885	738	26	3		3	SAR1B	5	133945288	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	44001751	133945288	46969972	31	3412											
HIST1H2BK	85236	broad.mit.edu;bcgsc.ca	37	chr6	27114542	27114542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acggctttcttcgagcccttCttgggcgcgggagcggactt	14	12	2	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr6:27114542C>T	ENST00000356950.1	-	1	35	c.36G>A	c.(34-36)aaG>aaA	p.K12K	HIST1H2BK_ENST00000396891.4_Silent_p.K12K|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	12					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCGAGCCCTTCTTGGGCGCGG	0.577																																					p.K12K		.											.	HIST1H2BK-68	0			c.G36A						.						86	81	83					6																	27114542		2203	4300	6503	SO:0001819	synonymous_variant	85236	exon1			GCCCTTCTTGGGC	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.36G>A	6.37:g.27114542C>T		Somatic	255	1		WXS	Illumina GAIIx	Phase_I	333	27	NM_080593	0	0	244	299	55	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																			.		0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		T	27114542	C	T	27114542	2	4	17	1	0	0	0	0	0	0	0	1	7177	912	32	3		3	HIST1H2BK	6	27114542	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		27114542	144000525	32	3413											
RUNX2	860	hgsc.bcm.edu	37	chr6	45390514	45390514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggctgcggcggcggcGgcggctgcggcggcggcagc	24	14	0	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr6:45390514G>A	ENST00000371438.1	+	2	601	c.243G>A	c.(241-243)gcG>gcA	p.A81A	RUNX2_ENST00000359524.5_Silent_p.A67A|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.A149A|RUNX2_ENST00000352853.5_Silent_p.A149A|RUNX2_ENST00000371436.6_Silent_p.A81A|RUNX2_ENST00000465038.2_Silent_p.A81A|RUNX2_ENST00000371432.3_Silent_p.A67A|RUNX2_ENST00000576263.1_Silent_p.A81A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	81	Poly-Ala.		Missing. {ECO:0000269|PubMed:9182765}.		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						cggcggcggcggcggctgcgg	0.726																																					p.A81A		.											.	RUNX2-417	0			c.G243A						.						3	5	5					6																	45390514		922	2241	3163	SO:0001819	synonymous_variant	860	exon3			GGCGGCGGCGGCT	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.243G>A	6.37:g.45390514G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	4	NM_001024630	0	0	0	0	0	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																			.		0.726	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45390514	G	A	45390514	2	1	17	1	0	0	0	0	0	0	0	1	13793	1103	39	1		1	RUNX2	6	45390514	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	18275972	45390514	125724553	33	3414											
FAM46A	55603	hgsc.bcm.edu	37	chr6	82461742	82461742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaccgccgaagtcgccGccgccgaagtcgccgccgcc	12	22	0	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr6:82461742G>A	ENST00000320172.6	-	2	431	c.117C>T	c.(115-117)ggC>ggT	p.G39G	FAM46A_ENST00000369754.3_Silent_p.G58G|FAM46A_ENST00000369756.3_Silent_p.G120G	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)		cgaagtcgccgccgccgaagt	0.667																																					p.G39G		.											.	FAM46A-90	0			c.C117T						.						7	8	8					6																	82461742		1601	3424	5025	SO:0001819	synonymous_variant	55603	exon2			GTCGCCGCCGCCG	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.117C>T	6.37:g.82461742G>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	152	9	NM_017633	0	0	1	1	0	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	CCDS34489.1																																																																																			.		0.667	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461742	G	A	82461742	2	1	17	1	0	0	0	0	0	0	0	1	5587	1074	38	1		1	FAM46A	6	82461742	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	37071228	82461742	88653325	34	3415											
WDR27	253769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	170013695	170013695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcatcccatcgccaaTggccgtggtcaggaaaaggt	11	12	2	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr6:170013695T>C	ENST00000448612.1	-	22	2390	c.2281A>G	c.(2281-2283)Att>Gtt	p.I761V	WDR27_ENST00000423258.1_Missense_Mutation_p.I634V|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.I761V	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	731						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)		CCATCGCCAATGGCCGTGGTC	0.493																																					p.I761V		.											.	WDR27-69	0			c.A2281G						.						84	86	86					6																	170013695		1950	4138	6088	SO:0001583	missense	253769	exon22			CGCCAATGGCCGT	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.2281A>G	6.37:g.170013695T>C	ENSP00000416289:p.Ile761Val	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	181	64	NM_182552	0	0	0	3	3	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	t	0.041	-1.282773	0.01398	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.16457	5.06;2.34;5.06	4.88	-9.23	0.00672	.	1.947270	0.03215	N	0.176622	T	0.02304	0.0071	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.18610	0.002;0.008;0.029	B;B;B	0.11329	0.002;0.006;0.005	T	0.14144	-1.0483	10	0.21540	T	0.41	-1.6724	17.8257	0.88665	0.0:0.6818:0.0:0.3182	.	761;634;761	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	V	761;761;634	ENSP00000416289:I761V;ENSP00000330265:I761V;ENSP00000397869:I634V	ENSP00000330265:I761V	I	-	1	0	WDR27	169755620	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.700000	0.01905	-1.880000	0.01125	-1.156000	0.01807	ATT	.		0.493	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		C	170013695	T	C	170013695	3	2	17	1	0	0	0	0	1	0	0	0	17333	1464	51	4	308	4	WDR27	6	170013695	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	87551953	170013695	1101372	35	3416											
TBP	6908	bcgsc.ca	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	10	12	0	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	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)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q		.											.	TBP-91	0			c.G180A						.						43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	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.180G>A	6.37:g.170871004G>A		Somatic	94	2		WXS	Illumina GAIIx	Phase_I	105	7	NM_003194	0	0	13	13	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	17	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871004	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	857309	170871004	244063	36	3417											
MICALL2	79778	hgsc.bcm.edu	37	chr7	1484572	1484572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactcggggggctcccccAccctggggtgtggccgggcg	18	16	0	0	rs10435184	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:1484572A>G	ENST00000297508.7	-	6	1309	c.1134T>C	c.(1132-1134)ggT>ggC	p.G378G	MICALL2_ENST00000405088.4_Silent_p.G166G	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	378	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCTCCCCCACCCTGGGGTG	0.716													G|||	4980	0.994409	0.9985	0.9914	5008	,	,		11496	1		0.9801	False		,,,				2504	1				p.G378G		.											.	MICALL2-90	0			c.T1134C						.			3824,4		1910,4,0	4	4	4		1134	1.5	0	7	dbSNP_119	4	7610,92		3759,92,0	yes	coding-synonymous	MICALL2	NM_182924.3		5669,96,0	GG,GA,AA		1.1945,0.1045,0.8326		378/905	1484572	11434,96	1914	3851	5765	SO:0001819	synonymous_variant	79778	exon6			TCCCCCACCCTGG	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1134T>C	7.37:g.1484572A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_182924	0	0	0	5	5	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																			A|0.009;G|0.991		0.716	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		G	1484572	A	G	1484572	2	3	17	1	0	0	0	0	0	0	0	1	9612	146	6	4		4	MICALL2	7	1484572	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10		1484572	157654091	37	3418											
C7orf27	221927	hgsc.bcm.edu	37	chr7	2578371	2578371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccgagtctacggagaGgatgtgcaggagctccagga	15	11	1	1	rs56727079	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:2578371G>A	ENST00000340611.4	-	14	2054	c.1798C>T	c.(1798-1800)Ctc>Ttc	p.L600F	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	600					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TCTACGGAGAGGATGTGCAGG	0.672													G|||	550	0.109824	0.0613	0.0591	5008	,	,		18473	0.2748		0.0199	False		,,,				2504	0.1339				p.L600F		.											.	BRAT1-229	0			c.C1798T						.	G	PHE/LEU	168,4144		2,164,1990	21	24	23		1798	5.4	0.1	7	dbSNP_129	23	78,8348		0,78,4135	yes	missense	BRAT1	NM_152743.3	22	2,242,6125	AA,AG,GG		0.9257,3.8961,1.9312	probably-damaging	600/822	2578371	246,12492	2156	4213	6369	SO:0001583	missense	221927	exon14			CGGAGAGGATGTG	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.1798C>T	7.37:g.2578371G>A	ENSP00000339637:p.Leu600Phe	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_152743	0	0	53	82	29	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	214	0.09798534798534798	32	0.06504065040650407	11	0.03038674033149171	156	0.2727272727272727	15	0.01978891820580475	G	14.88	2.668388	0.47677	0.038961	0.009257	ENSG00000106009	ENST00000340611	T	0.51071	0.72	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.132337	0.48767	D	0.000164	T	0.00012	0.0000	M	0.74258	2.255	0.23309	P	0.99793193	D	0.89917	1.0	D	0.85130	0.997	T	0.36089	-0.9762	9	0.87932	D	0	-28.4961	7.1458	0.25583	0.2083:0.0:0.7917:0.0	rs56727079;rs61742874	600	Q6PJG6	BRAT1_HUMAN	F	600	ENSP00000339637:L600F	ENSP00000339637:L600F	L	-	1	0	BRAT1	2544897	1.000000	0.71417	0.063000	0.19743	0.190000	0.23558	2.598000	0.46223	2.562000	0.86427	0.555000	0.69702	CTC	G|0.928;A|0.072		0.672	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2578371	G	A	2578371	3	1	17	1	0	0	0	0	1	0	0	0	2389	1000	35	3	671	3	C7orf27	7	2578371	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	1093799	2578371	156560292	38	3419											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000583664.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_002047	0	0	0	22	22	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	17	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	28056290	30634661	128504002	39	3420											
GLI3	2737	hgsc.bcm.edu	37	chr7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcacgccgtggcccGgcgcatcgtgcggctgcagg	14	18	1	0	rs929387	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4	5	5	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_000168	0	0	0	2	2	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42005678	G	A	42005678	3	1	17	1	0	0	0	0	1	0	0	0	6465	1116	39	1	1753	1	GLI3	7	42005678	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	11371017	42005678	117132985	40	3421											
SSPO	23145	hgsc.bcm.edu	37	chr7	149489784	149489784	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccctccggccgaggtcGccagtgccgtggcatccacc	12	20	0	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:149489784G>T	ENST00000378016.2	+	0	5840							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)			GGCCGAGGTCGCCAGTGCCGT	0.697																																					p.R1947L		.											.	.	0			c.G5840T						.						16	23	21					7																	149489784		2035	4146	6181			23145	exon38			GAGGTCGCCAGTG	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.149489784G>T		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	71	5	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149489784	G	T	149489784	1	4	17	0	1	0	0	0	0	0	0	0	15236	1087	38	2		2	SSPO	7	149489784	RNA	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	107484106	149489784	9648879	41	3422											
DPP6	1804	hgsc.bcm.edu	37	chr7	153750019	153750019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgaggaggacggcggCgcaggagccaagcccctcgg	19	14	0	0	rs554552970	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr7:153750019C>T	ENST00000377770.3	+	1	255	c.114C>T	c.(112-114)ggC>ggT	p.G38G	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000406326.1_Silent_p.G38G|AC006019.3_ENST00000425591.1_RNA			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	38					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGACGGCGGCGCAGGAGCCA	0.791													C|||	413	0.0824681	0.0356	0.0994	5008	,	,		4709	0.002		0.1372	False		,,,				2504	0.1605				p.G38G	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C114T						.						5	7	6					7																	153750019		678	1541	2219	SO:0001819	synonymous_variant	1804	exon1			CGGCGGCGCAGGA	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.114C>T	7.37:g.153750019C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	12	NM_130797	0	0	0	0	0		Silent	SNP	ENST00000377770.3	37																																																																																				.		0.791	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		T	153750019	C	T	153750019	2	4	17	1	0	0	0	0	0	0	0	1	4744	755	27	1		1	DPP6	7	153750019	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	4260235	153750019	5388644	42	3423											
FAM135B	51059	bcgsc.ca	37	chr8	139165272	139165272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggccacattctcaccTggctctggacaccttataac	8	13	2	0	rs7835712|rs71505459	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:139165272T>C	ENST00000395297.1	-	13	1616	c.1446A>G	c.(1444-1446)ccA>ccG	p.P482P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	482										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATTCTCACCTGGCTCTGGAC	0.393										HNSCC(54;0.14)			C|||	3610	0.720847	0.6853	0.7464	5008	,	,		18415	0.7718		0.6869	False		,,,				2504	0.7331				p.P482P		.											.	FAM135B-31	0			c.A1446G						.	C		2725,1119		982,761,179	119	113	115		1446	-2.6	0	8	dbSNP_116	115	5519,2761		1849,1821,470	no	coding-synonymous	FAM135B	NM_015912.3		2831,2582,649	CC,CT,TT		33.3454,29.1103,32.0026		482/1407	139165272	8244,3880	1922	4140	6062	SO:0001819	synonymous_variant	51059	exon13			CTCACCTGGCTCT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1446A>G	8.37:g.139165272T>C		Somatic	180	1		WXS	Illumina GAIIx	Phase_I	146	8	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			T|0.330;C|0.670		0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139165272	T	C	139165272	2	2	17	1	0	0	0	0	0	0	0	1	5468	1567	55	4		4	FAM135B	8	139165272	Silent	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10		139165272	7198750	43	3424			1	10		2	2	18	T		5.765948e-05
FAM135B	51059	bcgsc.ca	37	chr8	139165289	139165289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggctctggacaccttaTaacttcttcatcagaatcca	5	13	4	1	rs7835830	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:139165289T>C	ENST00000395297.1	-	13	1599	c.1429A>G	c.(1429-1431)Ata>Gta	p.I477V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	477			I -> V (in dbSNP:rs7835830). {ECO:0000269|PubMed:15489334}.							NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGACACCTTATAACTTCTTCA	0.373										HNSCC(54;0.14)			T|||	3597	0.718251	0.6785	0.7435	5008	,	,		18307	0.7718		0.6869	False		,,,				2504	0.7311				p.I477V		.											.	FAM135B-31	0			c.A1429G						.	T	VAL/ILE	2661,1135		946,769,183	106	100	102		1429	-2.3	0	8	dbSNP_116	102	5511,2753		1840,1831,461	yes	missense	FAM135B	NM_015912.3	29	2786,2600,644	CC,CT,TT		33.3132,29.8999,32.2388	benign	477/1407	139165289	8172,3888	1898	4132	6030	SO:0001583	missense	51059	exon13			ACCTTATAACTTC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1429A>G	8.37:g.139165289T>C	ENSP00000378710:p.Ile477Val	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	129	7	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	1582	0.7243589743589743	356	0.7235772357723578	254	0.7016574585635359	451	0.7884615384615384	521	0.6873350923482849	T	1.839	-0.467949	0.04476	0.701001	0.666868	ENSG00000147724	ENST00000395297	T	0.13538	2.58	5.3	-2.29	0.06805	.	2.726620	0.00783	N	0.001280	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.34403	-0.9830	9	0.19147	T	0.46	2.611	4.4732	0.11722	0.1358:0.0787:0.4948:0.2907	rs7835830;rs59872083;rs7835830	477;477;477	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	477	ENSP00000378710:I477V	ENSP00000276737:I477V	I	-	1	0	FAM135B	139234471	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.417000	0.02464	-0.180000	0.10637	0.533000	0.62120	ATA	T|0.289;C|0.711		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139165289	T	C	139165289	3	2	17	1	0	0	0	0	1	0	0	0	5468	1406	49	4	2823	4	FAM135B	8	139165289	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	17	139165289	7198733	44	3425			1	10		2	2	18	T		5.765948e-05
GPR20	2843	broad.mit.edu;bcgsc.ca	37	chr8	142367099	142367099	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggccgaagaggcctcGgacggtggcctggaagccac	17	12	0	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:142367099G>A	ENST00000377741.3	-	2	1015	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	309					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AAGAGGCCTCGGACGGTGGCC	0.642																																					p.R309X		.											.	GPR20-91	0			c.C925T						.						76	65	69					8																	142367099		2203	4300	6503	SO:0001587	stop_gained	2843	exon2			GGCCTCGGACGGT	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.925C>T	8.37:g.142367099G>A	ENSP00000366970:p.Arg309*	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	146	7	NM_005293	0	0	0	0	0	Q17R96	Nonsense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540250	0.85917	.	.	ENSG00000204882	ENST00000377741	.	.	.	5.21	5.21	0.72293	.	0.069606	0.53938	U	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9315	11.5928	0.50955	0.0:0.0:0.7154:0.2846	.	.	.	.	X	309	.	ENSP00000366970:R309X	R	-	1	2	GPR20	142436281	0.955000	0.32602	0.926000	0.36857	0.475000	0.33008	1.856000	0.39389	2.421000	0.82119	0.561000	0.74099	CGA	.		0.642	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367099	G	A	142367099	4	1	17	1	0	0	0	0	0	1	0	0	6706	1124	39	1	155	1	GPR20	8	142367099	Nonsense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	3201810	142367099	3996923	45	3426											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_030895	0	0	0	1	1	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	17	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	2011769	144378868	1985154	46	3427											
PLEC	5339	hgsc.bcm.edu	37	chr8	144997783	144997783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgccgccgggactgcGccgcctcacgctccgcctgc	11	22	1	0	rs74772299	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:144997783G>A	ENST00000322810.4	-	31	6894	c.6725C>T	c.(6724-6726)gCg>gTg	p.A2242V	PLEC_ENST00000357649.2_Missense_Mutation_p.A2109V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2091V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2128V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2105V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2073V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2132V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2083V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2105V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2242	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGGACTGCGCCGCCTCACG	0.756													G|||	327	0.0652955	0.0015	0.1354	5008	,	,		9813	0.0437		0.0368	False		,,,				2504	0.1534				p.A2242V		.											.	PLEC-141	0			c.C6725T						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	31,3509		0,31,1739	5	7	6		6314,6326,6314,6218,6725,6248,6272,6395	2.9	0	8	dbSNP_131	6	285,7369		1,283,3543	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	64,64,64,64,64,64,64,64	1,314,5282	AA,AG,GG		3.7235,0.8757,2.8229	benign,benign,benign,benign,benign,benign,benign,benign	2105/4548,2109/4552,2105/4548,2073/4516,2242/4685,2083/4526,2091/4534,2132/4575	144997783	316,10878	1770	3827	5597	SO:0001583	missense	5339	exon31			GACTGCGCCGCCT	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.6725C>T	8.37:g.144997783G>A	ENSP00000323856:p.Ala2242Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_201380	0	0	2	3	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	90	0.04120879120879121	1	0.0020325203252032522	43	0.11878453038674033	20	0.03496503496503497	26	0.03430079155672823	G	7.181	0.589567	0.13812	0.008757	0.037235	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77750	-1.09;-1.09;-1.12;-1.12;-1.1;-1.09;-1.08;-1.09;-1.09	4.76	2.93	0.34026	.	0.181251	0.33110	U	0.005270	T	0.02230	0.0069	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B;B;B	0.28971	0.229;0.229;0.229;0.147;0.229;0.229;0.229;0.229	B;B;B;B;B;B;B;B	0.24269	0.052;0.052;0.052;0.023;0.052;0.052;0.052;0.052	T	0.06917	-1.0800	10	0.44086	T	0.13	.	5.8336	0.18594	0.0785:0.1365:0.644:0.141	.	2132;2091;2083;2242;2073;2105;2109;2105	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2105;2109;2105;2073;2242;2083;2091;2132;2128	ENSP00000344848:A2105V;ENSP00000350277:A2109V;ENSP00000346602:A2105V;ENSP00000381756:A2073V;ENSP00000323856:A2242V;ENSP00000347044:A2083V;ENSP00000348702:A2091V;ENSP00000388180:A2132V;ENSP00000434583:A2128V	ENSP00000323856:A2242V	A	-	2	0	PLEC	145069771	0.093000	0.21703	0.001000	0.08648	0.634000	0.38068	2.548000	0.45794	0.419000	0.25927	0.448000	0.29417	GCG	G|0.960;A|0.040		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144997783	G	A	144997783	3	1	17	1	0	0	0	0	1	0	0	0	12091	1087	38	1	7337	1	PLEC	8	144997783	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	618915	144997783	1366239	47	3428			2	11	5832494	3	3	4002	N	G_C_A	9.123066e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	144998514	144998514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaggcgctcgttctcCgcctccttctccttgagcgc	10	19	2	1	rs75586449	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:144998514C>T	ENST00000322810.4	-	31	6163	c.5994G>A	c.(5992-5994)gcG>gcA	p.A1998A	PLEC_ENST00000357649.2_Silent_p.A1865A|PLEC_ENST00000356346.3_Silent_p.A1847A|PLEC_ENST00000527096.1_Silent_p.A1884A|PLEC_ENST00000354589.3_Silent_p.A1861A|PLEC_ENST00000398774.2_Silent_p.A1829A|PLEC_ENST00000436759.2_Silent_p.A1888A|PLEC_ENST00000354958.2_Silent_p.A1839A|PLEC_ENST00000345136.3_Silent_p.A1861A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1998	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGTTCTCCGCCTCCTTCT	0.726													T|||	349	0.0696885	0.0113	0.1412	5008	,	,		11250	0.0437		0.0358	False		,,,				2504	0.1595				p.A1998A		.											.	PLEC-141	0			c.G5994A						.	T	,,,,,,,	38,3548		0,38,1755	7	9	8		5664,5541,5517,5994,5487,5583,5595,5583	-5.2	0.8	8	dbSNP_131	8	272,7344		2,268,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	2,306,5293	TT,TC,CC		3.5714,1.0597,2.7674	,,,,,,,	1888/4575,1847/4534,1839/4526,1998/4685,1829/4516,1861/4548,1865/4552,1861/4548	144998514	310,10892	1793	3808	5601	SO:0001819	synonymous_variant	5339	exon31			GTTCTCCGCCTCC	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.5994G>A	8.37:g.144998514C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	14	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.961;T|0.039		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998514	C	T	144998514	2	4	17	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998514	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	731	144998514	1365508	48	3429			2	11	5832494	3	3	4002	N	G_C_A	9.123066e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000345136.3_Silent_p.L1184L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	17	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	3270	145001784	1362238	49	3430			2	11	5832494	3	3	4002	N	G_C_A	9.123066e-05
NIPSNAP3A	25934	bcgsc.ca	37	chr9	107515214	107515214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatcgaactgaagttcGgaaagccttggccaaagata	10	9	1	2	rs2274870	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr9:107515214G>A	ENST00000374767.4	+	3	404	c.299G>A	c.(298-300)cGg>cAg	p.R100Q		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	100			R -> Q (in dbSNP:rs2274870). {ECO:0000269|PubMed:14702039}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ACTGAAGTTCGGAAAGCCTTG	0.343													G|||	3193	0.63758	0.7648	0.7118	5008	,	,		17454	0.5228		0.6173	False		,,,				2504	0.5521				p.R100Q		.											.	NIPSNAP3A-90	0			c.G299A						.	G	GLN/ARG	3317,1089	719.0+/-408.9	1244,829,130	87	84	85		299	1.3	1	9	dbSNP_100	85	5471,3129	655.9+/-401.3	1772,1927,601	yes	missense	NIPSNAP3A	NM_015469.1	43	3016,2756,731	AA,AG,GG		36.3837,24.7163,32.4312		100/248	107515214	8788,4218	2203	4300	6503	SO:0001583	missense	25934	exon3			AAGTTCGGAAAGC	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.299G>A	9.37:g.107515214G>A	ENSP00000363899:p.Arg100Gln	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	133	5	NM_015469	0	0	24	24	0	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	CCDS6760.1	1409	0.6451465201465202	378	0.7682926829268293	250	0.6906077348066298	317	0.5541958041958042	464	0.6121372031662269	G	21.6	4.179941	0.78564	0.752837	0.636163	ENSG00000136783	ENST00000374767	T	0.67698	-0.28	5.4	1.26	0.21427	Dimeric alpha-beta barrel (1);	0.054700	0.64402	N	0.000001	T	0.00012	0.0000	M	0.92317	3.295	0.28152	P	0.929344	P;P	0.52061	0.95;0.95	P;B	0.51615	0.675;0.43	T	0.42447	-0.9451	9	0.48119	T	0.1	.	6.5591	0.22476	0.2114:0.0:0.6626:0.126	rs2274870;rs60079462;rs2274870	100;100	B4DW81;Q9UFN0	.;NPS3A_HUMAN	Q	100	ENSP00000363899:R100Q	ENSP00000363899:R100Q	R	+	2	0	NIPSNAP3A	106555035	0.970000	0.33590	0.989000	0.46669	0.986000	0.74619	0.876000	0.28092	0.243000	0.21327	0.655000	0.94253	CGG	G|0.331;A|0.669		0.343	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		A	107515214	G	A	107515214	3	1	17	1	0	0	0	0	1	0	0	0	10469	1116	39	1	309	1	NIPSNAP3A	9	107515214	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		107515214	33698217	50	3431											
COL27A1	85301	bcgsc.ca	37	chr9	116967405	116967405	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagggctatcctggaccGgcagggcaccccggagaaca	13	14	0	1	rs13290696	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr9:116967405G>T	ENST00000356083.3	+	8	2539	c.2148G>T	c.(2146-2148)ccG>ccT	p.P716P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	716	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCCTGGACCGGCAGGGCACC	0.667													G|||	399	0.0796725	0.0416	0.0331	5008	,	,		17714	0.0208		0.0785	False		,,,				2504	0.226				p.P716P		.											.	COL27A1-94	0			c.G2148T						.	G		222,4184	132.5+/-169.0	5,212,1986	66	53	57		2148	-10.1	0	9	dbSNP_121	57	821,7779	189.3+/-236.1	34,753,3513	no	coding-synonymous	COL27A1	NM_032888.2		39,965,5499	TT,TG,GG		9.5465,5.0386,8.0194		716/1861	116967405	1043,11963	2203	4300	6503	SO:0001819	synonymous_variant	85301	exon8			TGGACCGGCAGGG	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.2148G>T	9.37:g.116967405G>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	50	4	NM_032888	0	0	1	1	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			G|0.931;T|0.069		0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116967405	G	T	116967405	2	4	17	1	0	0	0	0	0	0	0	1	3692	1103	39	2		2	COL27A1	9	116967405	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	9452191	116967405	24246026	51	3432											
LMX1B	4010	broad.mit.edu	37	chr9	129376842	129376843	+	Frame_Shift_Ins	INS	-	-	C													agcacgccctgcgccccgggINScccgccactctgggggtgct							TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr9:129376842_129376843insC	ENST00000373474.4	+	1	121_122	c.114_115insC	c.(115-117)cccfs	p.P39fs	LMX1B_ENST00000425646.2_Frame_Shift_Ins_p.P16fs|LMX1B_ENST00000561065.1_Frame_Shift_Ins_p.P16fs|RP11-123K19.1_ENST00000425370.1_RNA|LMX1B_ENST00000355497.5_Frame_Shift_Ins_p.P39fs|RP11-123K19.1_ENST00000451449.2_RNA|LMX1B_ENST00000526117.1_Frame_Shift_Ins_p.P39fs|RP11-123K19.1_ENST00000432418.1_RNA			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	39					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	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)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGCGCCCCGGGCCCGCCACTCT	0.708									Nail-Patella Syndrome																												p.G38fs	Pancreas(110;1796 2278 18357 20466)	.											.	LMX1B-90	0			c.114_115insC						.																																			SO:0001589	frameshift_variant	4010	exon1	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	CCCCGGGCCCGCC	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.117dupC	9.37:g.129376845_129376845dupC	ENSP00000362573:p.Pro39fs	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	119	8	NM_002316	0	0	0	0	0	F8W7W6|O75463|Q5JU95|Q6ISC9	Frame_Shift_Ins	INS	ENST00000373474.4	37	CCDS55342.1																																																																																			.		0.708	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			C	129376843	-	C	129376842	7	5	17	1	0	1	1	0	0	0	0	0	8892	1190	42	0	116	0	LMX1B	9	129376842	Frame_Shift_Ins	INS	-	TCGA-OR-A5JL-01A-11D-A29I-10	12409437	129376842	11836589	52	3433											
CACNA1B	774	hgsc.bcm.edu	37	chr9	140917779	140917779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgacaaggacaagacccccGcggcgggggaccaggaccga	16	14	0	1	rs7873074	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr9:140917779G>T	ENST00000371372.1	+	19	2729	c.2584G>T	c.(2584-2586)Gcg>Tcg	p.A862S	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A863S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A862S|CACNA1B_ENST00000371367.5_5'Flank|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A862S|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A54S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A863S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	862			A -> S (in dbSNP:rs7873074).		calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGACCCCCGCGGCGGGGGA	0.771													G|||	2138	0.426917	0.7292	0.1383	5008	,	,		8593	0.6339		0.1541	False		,,,				2504	0.2904				p.A862S		.											.	CACNA1B-138	0			c.G2584T						.						1	1	1					9																	140917779		1024	2272	3296	SO:0001583	missense	774	exon19			ACCCCCGCGGCGG	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2584G>T	9.37:g.140917779G>T	ENSP00000360423:p.Ala862Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	871	0.39880952380952384	351	0.7134146341463414	42	0.11602209944751381	361	0.6311188811188811	117	0.15435356200527706	G	2.404	-0.336886	0.05278	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.96685	-3.87;-3.88;-4.09;-3.88;-3.86;-3.86	2.64	2.64	0.31445	.	607.713000	0.00166	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P;P	0.41748	0.731;0.761;0.612	B;B;B	0.32149	0.071;0.141;0.081	T	0.48559	-0.9025	9	0.07813	T	0.8	.	8.5047	0.33179	0.0:0.0:1.0:0.0	rs7873074;rs57704776	862;863;862	B1AQK4;B1AQK7;B1AQK6	.;.;.	S	862;862;54;862;863;863	ENSP00000360423:A862S;ENSP00000277551:A862S;ENSP00000277549:A54S;ENSP00000360414:A862S;ENSP00000360408:A863S;ENSP00000360406:A863S	ENSP00000277549:A54S	A	+	1	0	CACNA1B	140037600	0.000000	0.05858	0.012000	0.15200	0.095000	0.18619	-0.158000	0.10070	1.290000	0.44636	0.455000	0.32223	GCG	G|0.601;T|0.399		0.771	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140917779	G	T	140917779	3	4	17	1	0	0	0	0	1	0	0	0	2546	1087	38	2	2658	2	CACNA1B	9	140917779	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	11540937	140917779	295652	53	3434											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC													tgagccgatcccacctggagTtgcttccgggggcctcaggc					rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D|KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		AC	135012430	TT	AC	135012429	3	1	17	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	DNP	TT	TCGA-OR-A5JL-01A-11D-A29I-10		135012429	522318	54	3435											
MUC2	4583	hgsc.bcm.edu	37	chr11	1093255	1093255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaccccaacacccaccGgcacacagaccccaacatcg	4	23	0	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr11:1093255G>A	ENST00000441003.2	+	30	5101	c.5074G>A	c.(5074-5076)Ggc>Agc	p.G1692S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.G1659S	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)	aacacccaccggcacacagac	0.632																																					p.G1692S		.											.	MUC2-90	0			c.G5074A						.						103	146	130					11																	1093255		1824	3301	5125	SO:0001583	missense	4583	exon30			CCCACCGGCACAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5074G>A	11.37:g.1093255G>A	ENSP00000415183:p.Gly1692Ser	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	75	5	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	2.038	-0.420660	0.04734	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08193	3.12;3.21	0.851	-1.7	0.08159	.	1.185760	0.07126	U	0.844791	T	0.02807	0.0084	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42464	-0.9450	9	0.07482	T	0.82	.	1.4251	0.02321	0.4158:0.0:0.2617:0.3225	.	1692	E7EUV1	.	S	1692;1659	ENSP00000415183:G1692S;ENSP00000351956:G1659S	ENSP00000351956:G1659S	G	+	1	0	MUC2	1083255	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.153000	0.10144	-0.885000	0.03971	-1.109000	0.02080	GGC	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093255	G	A	1093255	3	1	17	1	0	0	0	0	1	0	0	0	10013	1116	39	1	5192	1	MUC2	11	1093255	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		1093255	133913261	55	3436											
WT1	7490	broad.mit.edu	37	chr11	32417887	32417887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagcacacatgaaggggcGtttctcactggtctcagatg	12	9	2	2			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr11:32417887G>A	ENST00000379079.2	-	7	802	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WT1_ENST00000332351.3_Missense_Mutation_p.R389C|WT1_ENST00000448076.3_Missense_Mutation_p.R389C|WT1_ENST00000530998.1_Missense_Mutation_p.R160C	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	321					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ATGAAGGGGCGTTTCTCACTG	0.537			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.R389C		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.C1165T						.						134	114	121					11																	32417887		2202	4299	6501	SO:0001583	missense	7490	exon7	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	AGGGGCGTTTCTC		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.529C>T	11.37:g.32417887G>A	ENSP00000368370:p.Arg177Cys	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	71	3	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.605282|4.605282	0.87157|0.87157	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076|ENST00000527882	D;D;D;D;D|.	0.89810|.	-2.57;-2.57;-2.57;-2.57;-2.57|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Wilm&apos (1);s tumour protein, N-terminal (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.70727|0.70727	0.3257|0.3257	L|L	0.57536|0.57536	1.79|1.79	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|.	0.91635|.	0.998;0.999;0.998;0.999;0.998|.	T|T	0.66658|0.66658	-0.5868|-0.5868	10|5	0.87932|.	D|.	0|.	.|.	15.581|15.581	0.76439|0.76439	0.0:0.0:0.8623:0.1377|0.0:0.0:0.8623:0.1377	.|.	377;321;394;160;177|.	P19544-8;P19544;P19544-7;B3KSA5;P19544-6|.	.;WT1_HUMAN;.;.;.|.	C|M	177;389;160;372;389|79	ENSP00000368370:R177C;ENSP00000331327:R389C;ENSP00000435307:R160C;ENSP00000415516:R372C;ENSP00000413452:R389C|.	ENSP00000331327:R389C|.	R|T	-|-	1|2	0|0	WT1|WT1	32374463|32374463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.336000|4.336000	0.59304|0.59304	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG	.		0.537	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		A	32417887	G	A	32417887	3	1	17	1	0	0	0	0	1	0	0	0	17457	1145	40	1	404	1	WT1	11	32417887	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	31324632	32417887	102588629	56	3437											
CHRM1	1128	bcgsc.ca	37	chr11	62677220	62677220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagggagtgcggtgcacGgagccagggcgcttggggat	22	8	0	0	rs2067480	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr11:62677220G>A	ENST00000306960.3	-	2	1894	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	451					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TGCGGTGCACGGAGCCAGGGC	0.657													G|||	401	0.0800719	0.0113	0.268	5008	,	,		16994	0.0843		0.0915	False		,,,				2504	0.0235				p.S451S		.											.	CHRM1-90	0			c.C1353T						.	G		95,4307	76.8+/-115.0	1,93,2107	81	88	85		1353	-9.1	0	11	dbSNP_96	85	776,7820	183.7+/-231.9	40,696,3562	no	coding-synonymous	CHRM1	NM_000738.2		41,789,5669	AA,AG,GG		9.0275,2.1581,6.701		451/461	62677220	871,12127	2201	4298	6499	SO:0001819	synonymous_variant	1128	exon2			GTGCACGGAGCCA	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1353C>T	11.37:g.62677220G>A		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	82	4	NM_000738	0	0	0	0	0	Q96RH1	Silent	SNP	ENST00000306960.3	37	CCDS8040.1																																																																																			G|0.931;A|0.069		0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		A	62677220	G	A	62677220	2	1	17	1	0	0	0	0	0	0	0	1	3383	1103	39	1		1	CHRM1	11	62677220	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	30259333	62677220	72329296	57	3438											
ZNHIT2	741	hgsc.bcm.edu	37	chr11	64884742	64884742	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcggttccaccaccaCggccgccatggaggcagcag	13	17	0	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr11:64884742C>G	ENST00000310597.4	-	1	428	c.384G>C	c.(382-384)ccG>ccC	p.P128P	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	128							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCACCACCACGGCCGCCATG	0.716																																					p.P128P		.											.	ZNHIT2-153	0			c.G384C						.						6	9	8					11																	64884742		1837	3775	5612	SO:0001819	synonymous_variant	741	exon1			CCACCACGGCCGC		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.384G>C	11.37:g.64884742C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_014205	0	0	0	23	23	Q3SY14|Q8IUV0	Silent	SNP	ENST00000310597.4	37	CCDS8094.1																																																																																			.		0.716	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		G	64884742	C	G	64884742	2	3	17	1	0	0	0	0	0	0	0	1	18255	523	19	2		2	ZNHIT2	11	64884742	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	2207522	64884742	70121774	58	3439											
ROBO3	64221	broad.mit.edu	37	chr11	124740559	124740559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccgaagatgagggaaCgtacacctgtgtggcggaga	17	7	0	3	rs151168595	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr11:124740559C>T	ENST00000397801.1	+	6	1160	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ROBO3_ENST00000538940.1_Missense_Mutation_p.T301M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	323	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGAGGGAACGTACACCTGT	0.607													C|||	12	0.00239617	0	0.0029	5008	,	,		19829	0		0.003	False		,,,				2504	0.0072				p.T323M		.											.	ROBO3-113	0			c.C968T						.	C	MET/THR	2,4314		0,2,2156	51	56	55		968	4.2	0.8	11	dbSNP_134	55	17,8483		0,17,4233	yes	missense	ROBO3	NM_022370.3	81	0,19,6389	TT,TC,CC		0.2,0.0463,0.1483	possibly-damaging	323/1387	124740559	19,12797	2158	4250	6408	SO:0001583	missense	64221	exon6			AGGGAACGTACAC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.968C>T	11.37:g.124740559C>T	ENSP00000380903:p.Thr323Met	Somatic	239	1		WXS	Illumina GAIIx	Phase_I	245	8	NM_022370	0	0	0	0	0		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	19.91	3.914247	0.72983	4.63E-4	0.002	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.68181	-0.31;-0.31	4.21	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37715	N	0.001972	T	0.74786	0.3762	L	0.50919	1.6	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.74355	-0.3692	10	0.37606	T	0.19	.	16.7004	0.85348	0.0:1.0:0.0:0.0	.	323	Q96MS0	ROBO3_HUMAN	M	323;301	ENSP00000380903:T323M;ENSP00000441797:T301M	ENSP00000380903:T323M	T	+	2	0	ROBO3	124245769	1.000000	0.71417	0.796000	0.32109	0.682000	0.39822	5.821000	0.69257	2.344000	0.79699	0.462000	0.41574	ACG	C|0.998;T|0.002		0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		T	124740559	C	T	124740559	3	4	17	1	0	0	0	0	1	0	0	0	13560	536	19	1	990	1	ROBO3	11	124740559	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	59855817	124740559	10265957	59	3440											
APOLD1	81575	hgsc.bcm.edu	37	chr12	12939892	12939892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgggcccgacgcgctgcGgcgcttccagggactgctgc	16	15	0	0	rs4763876	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr12:12939892G>A	ENST00000326765.6	+	2	216	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	APOLD1_ENST00000356591.4_Missense_Mutation_p.R18Q	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	49	Arg-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		GACGCGCTGCGGCGCTTCCAG	0.771													G|||	290	0.0579073	0.0038	0.1527	5008	,	,		11940	0.0278		0.0736	False		,,,				2504	0.0787				p.R49Q		.											.	APOLD1-91	0			c.G146A						.	G	GLN/ARG,GLN/ARG	17,1923		1,15,954	1	1	1		146,53	4.9	1	12	dbSNP_111	1	243,4437		1,241,2098	no	missense,missense	APOLD1	NM_001130415.1,NM_030817.2	43,43	2,256,3052	AA,AG,GG		5.1923,0.8763,3.9275	probably-damaging,probably-damaging	49/280,18/249	12939892	260,6360	970	2340	3310	SO:0001583	missense	81575	exon2			CGCTGCGGCGCTT	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.146G>A	12.37:g.12939892G>A	ENSP00000324277:p.Arg49Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_001130415	0	0	0	1	1	Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	37	CCDS44833.1	125	0.05723443223443223	3	0.006097560975609756	45	0.12430939226519337	16	0.027972027972027972	61	0.08047493403693931	G	21.6	4.179961	0.78564	0.008763	0.051923	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.01347	4.99;4.99	4.94	4.94	0.65067	.	0.080970	0.50627	U	0.000113	T	0.00039	0.0001	L	0.32530	0.975	0.34201	P	0.32682599999999995	P;P	0.47910	0.82;0.902	B;B	0.42959	0.21;0.403	T	0.55829	-0.8079	9	0.56958	D	0.05	-17.5552	9.1508	0.36962	0.1061:0.0:0.8939:0.0	rs4763876	18;49	A0AVN6;Q96LR9	.;APLD1_HUMAN	Q	49;18	ENSP00000324277:R49Q;ENSP00000348998:R18Q	ENSP00000324277:R49Q	R	+	2	0	APOLD1	12831159	0.996000	0.38824	0.995000	0.50966	0.635000	0.38103	2.225000	0.42954	2.454000	0.82982	0.579000	0.79373	CGG	G|0.943;A|0.057		0.771	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		A	12939892	G	A	12939892	3	1	17	1	0	0	0	0	1	0	0	0	811	1116	39	1	159	1	APOLD1	12	12939892	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		12939892	120912003	60	3441											
MARCH9	92979	hgsc.bcm.edu	37	chr12	58149446	58149446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggcgcccttcgctggCtgctccacccgggacggcga	16	16	0	0	rs1689582	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr12:58149446C>T	ENST00000266643.5	+	1	566	c.135C>T	c.(133-135)ggC>ggT	p.G45G	MARCH9_ENST00000548358.1_5'Flank	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	45					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ccTTCGCTGGCTGCTCCACCC	0.801													C|||	4639	0.926318	0.789	0.9755	5008	,	,		3828	0.998		0.999	False		,,,				2504	0.9284				p.G45G		.											.	MARCH9-492	0			c.C135T						.						1	1	1					12																	58149446		343	936	1279	SO:0001819	synonymous_variant	92979	exon1			CGCTGGCTGCTCC	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.135C>T	12.37:g.58149446C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_138396	0	0	0	0	0	B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	CCDS31847.1																																																																																			T|0.004;G|0.064		0.801	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		T	58149446	C	T	58149446	2	4	17	1	0	0	0	0	0	0	0	1	9346	784	28	3		3	MARCH9	12	58149446	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	45209554	58149446	75702449	61	3442											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_152435	0	0	0	1	1	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	17	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	38187737	96337183	37514712	62	3443											
BTBD11	121551	hgsc.bcm.edu	37	chr12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgcagtggccctgGgtcaggctcgggctccggcc	17	15	1	0	rs961498	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5	3	3		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		C	107713511	G	C	107713511	3	2	17	1	0	0	0	0	1	0	0	0	1543	1232	43	3	796	3	BTBD11	12	107713511	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	11376328	107713511	26138384	63	3444											
ACACB	32	bcgsc.ca	37	chr12	109673448	109673448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcacattcagagcaagagAtgaggtatggccaaaagtaa	10	6	2	3	rs113524436	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr12:109673448A>T	ENST00000338432.7	+	33	4561	c.4442A>T	c.(4441-4443)gAt>gTt	p.D1481V	ACACB_ENST00000543201.1_Missense_Mutation_p.D147V|ACACB_ENST00000377854.5_Missense_Mutation_p.D1411V|ACACB_ENST00000377848.3_Missense_Mutation_p.D1481V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1481					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)	AGAGCAAGAGATGAGGTATGG	0.393													A|||	10	0.00199681	0	0.0014	5008	,	,		20150	0		0.005	False		,,,				2504	0.0041				p.D1481V		.											.	ACACB-98	0			c.A4442T						.	A	VAL/ASP	14,4392	21.2+/-45.6	0,14,2189	122	114	117		4442	5	1	12	dbSNP_132	117	110,8490	59.1+/-120.7	0,110,4190	yes	missense	ACACB	NM_001093.3	152	0,124,6379	TT,TA,AA		1.2791,0.3177,0.9534	probably-damaging	1481/2459	109673448	124,12882	2203	4300	6503	SO:0001583	missense	32	exon32			CAAGAGATGAGGT	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.4442A>T	12.37:g.109673448A>T	ENSP00000341044:p.Asp1481Val	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_001093	0	0	0	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	21.5	4.155187	0.78114	0.003177	0.012791	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.0	5.0	0.66597	Acetyl-CoA carboxylase, central domain (1);	0.044223	0.85682	D	0.000000	T	0.62720	0.2451	M	0.83953	2.67	0.80722	D	1	D	0.57899	0.981	D	0.69142	0.962	T	0.71699	-0.4514	10	0.54805	T	0.06	.	14.6768	0.68986	1.0:0.0:0.0:0.0	.	1481	O00763	ACACB_HUMAN	V	1481;1481;1411;712;147	ENSP00000341044:D1481V;ENSP00000367079:D1481V;ENSP00000367085:D1411V;ENSP00000444075:D147V	ENSP00000341044:D1481V	D	+	2	0	ACACB	108157831	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.224000	0.95209	2.021000	0.59480	0.496000	0.49642	GAT	A|0.992;T|0.008		0.393	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109673448	A	T	109673448	3	4	17	1	0	0	0	0	1	0	0	0	107	333	12	5	4568	5	ACACB	12	109673448	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	1959937	109673448	24178447	64	3445											
DNAJC15	29103	bcgsc.ca	37	chr13	43597865	43597865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccgacgtcgaccagcagAgactggtgagtcctgccagc	13	14	0	2	rs12015	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr13:43597865A>G	ENST00000379221.2	+	1	527	c.103A>G	c.(103-105)Aga>Gga	p.R35G	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	35			R -> G (in dbSNP:rs11617079). {ECO:0000269|PubMed:11358853, ECO:0000269|PubMed:15489334}.		cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGACCAGCAGAGACTGGTGAG	0.632													G|||	1181	0.235823	0.4281	0.2219	5008	,	,		8065	0.1002		0.2535	False		,,,				2504	0.1074				p.R35G		.											.	DNAJC15-650	0			c.A103G						.	G	GLY/ARG	1795,2609		375,1045,782	19	20	20		103	0.6	0	13	dbSNP_120	20	2062,6538		279,1504,2517	yes	missense	DNAJC15	NM_013238.2	125	654,2549,3299	GG,GA,AA		23.9767,40.7584,29.6601	benign	35/151	43597865	3857,9147	2202	4300	6502	SO:0001583	missense	29103	exon1			CAGCAGAGACTGG	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.103A>G	13.37:g.43597865A>G	ENSP00000368523:p.Arg35Gly	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	138	5	NM_013238	0	0	0	0	0	B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	ENST00000379221.2	37	CCDS9388.1	521	0.23855311355311357	180	0.36585365853658536	79	0.21823204419889503	65	0.11363636363636363	197	0.2598944591029024	G	5.877	0.345947	0.11126	0.407584	0.239767	ENSG00000120675	ENST00000379221	T	0.44881	0.91	4.56	0.561	0.17285	.	0.816791	0.11028	N	0.607571	T	0.00012	0.0000	N	0.01168	-0.975	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	9	0.19590	T	0.45	-19.9861	4.356	0.11178	0.4233:0.1645:0.4122:0.0	rs11617079;rs17856341;rs59811457;rs11617079	35	Q9Y5T4	DJC15_HUMAN	G	35	ENSP00000368523:R35G	ENSP00000368523:R35G	R	+	1	2	DNAJC15	42495865	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.682000	0.05185	-0.381000	0.07882	-0.166000	0.13349	AGA	A|0.726;G|0.274		0.632	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		G	43597865	A	G	43597865	3	3	17	1	0	0	0	0	1	0	0	0	4648	296	11	4	105	4	DNAJC15	13	43597865	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10		43597865	71572013	65	3446											
IRS2	8660	hgsc.bcm.edu	37	chr13	110435728	110435728	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcccctccagggacaggcgCgtgggcctcaccgcccggcc	14	19	1	0	rs75172981	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr13:110435728C>G	ENST00000375856.3	-	1	3187	c.2673G>C	c.(2671-2673)acG>acC	p.T891T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	891					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGACAGGCGCGTGGGCCTCA	0.721													.|||	135	0.0269569	0.0023	0.0663	5008	,	,		7040	0.0367		0.0278	False		,,,				2504	0.0215				p.T891T	Melanoma(100;613 2409 40847)	.											.	IRS2-1334	0			c.G2673C						.	C		15,4041		0,15,2013	4	5	4		2673	-1.7	1	13	dbSNP_131	4	205,7881		2,201,3840	no	coding-synonymous	IRS2	NM_003749.2		2,216,5853	GG,GC,CC		2.5352,0.3698,1.8119		891/1339	110435728	220,11922	2028	4043	6071	SO:0001819	synonymous_variant	8660	exon1			CAGGCGCGTGGGC	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2673G>C	13.37:g.110435728C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_003749	0	0	0	1	1	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																			C|0.970;G|0.030		0.721	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		G	110435728	C	G	110435728	2	3	17	1	0	0	0	0	0	0	0	1	7868	755	27	2		2	IRS2	13	110435728	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	66837863	110435728	4734150	66	3447											
C13orf28	122258	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	113055396	113055396	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaaagaagccaatgctaaTgcaaatctccatggcgatcc	7	10	1	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr13:113055396T>A	ENST00000283550.3	+	5	430	c.363T>A	c.(361-363)aaT>aaA	p.N121K	SPACA7_ENST00000375699.3_Missense_Mutation_p.N90K	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	121						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						ccaatgctaatgcaaatctcc	0.403																																					p.N121K		.											.	SPACA7-154	0			c.T363A						.						119	105	110					13																	113055396		2203	4300	6503	SO:0001583	missense	122258	exon5			TGCTAATGCAAAT	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 28"	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.363T>A	13.37:g.113055396T>A	ENSP00000283550:p.Asn121Lys	Somatic	74	1		WXS	Illumina GAIIx	Phase_I	91	31	NM_145248	0	0	0	0	0	Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.823084	0.32237	.	.	ENSG00000153498	ENST00000283550;ENST00000443541;ENST00000375699	T;T;T	0.46819	0.86;0.86;0.86	2.53	-1.69	0.08186	.	.	.	.	.	T	0.26666	0.0652	N	0.24115	0.695	0.09310	N	1	B	0.16603	0.018	B	0.15052	0.012	T	0.17745	-1.0359	9	0.44086	T	0.13	-0.0115	2.178	0.03867	0.2335:0.2944:0.0:0.4721	.	121	Q96KW9	SPAC7_HUMAN	K	121;107;90	ENSP00000283550:N121K;ENSP00000406733:N107K;ENSP00000364851:N90K	ENSP00000283550:N121K	N	+	3	2	SPACA7	112103397	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.700000	0.01905	-0.334000	0.08463	-0.669000	0.03829	AAT	.		0.403	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		A	113055396	T	A	113055396	3	1	17	1	0	0	0	0	1	0	0	0	1729	1461	51	5	381	5	C13orf28	13	113055396	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	2619668	113055396	2114482	67	3448											
CPNE6	9362	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	24546115	24546115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtcatcgcctcctaccGtcgttgcctgccccagatcc	10	17	1	1	rs201909603		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:24546115G>A	ENST00000397016.2	+	15	1504	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	CPNE6_ENST00000537691.1_Missense_Mutation_p.R453H|CPNE6_ENST00000216775.2_Missense_Mutation_p.R398H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	398	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCTCCTACCGTCGTTGCCTG	0.607																																					p.R398H		.											.	CPNE6-93	0			c.G1193A						.						79	71	74					14																	24546115		2203	4300	6503	SO:0001583	missense	9362	exon14			CCTACCGTCGTTG	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1193G>A	14.37:g.24546115G>A	ENSP00000380211:p.Arg398His	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	98	8	NM_006032	0	0	0	0	0	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730839	0.48939	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.25912	1.77;1.77;1.77	5.08	5.08	0.68730	von Willebrand factor, type A (2);Copine (1);	0.000000	0.56097	D	0.000025	T	0.33644	0.0870	L	0.47716	1.5	0.46499	D	0.999075	B;D;D	0.65815	0.282;0.985;0.995	B;P;P	0.57911	0.041;0.734;0.829	T	0.02736	-1.1117	10	0.22109	T	0.4	-42.2874	9.5731	0.39440	0.0958:0.0:0.9042:0.0	.	453;223;398	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	H	453;398;398	ENSP00000440077:R453H;ENSP00000380211:R398H;ENSP00000216775:R398H	ENSP00000216775:R398H	R	+	2	0	CPNE6	23615955	0.995000	0.38212	0.992000	0.48379	0.979000	0.70002	2.919000	0.48836	2.353000	0.79882	0.563000	0.77884	CGT	G|0.999;A|0.001		0.607	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			A	24546115	G	A	24546115	3	1	17	1	0	0	0	0	1	0	0	0	3823	1145	40	1	1243	1	CPNE6	14	24546115	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		24546115	82803425	68	3449											
TGM1	7051	bcgsc.ca	37	chr14	24729687	24729687	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggttgaagaggatgtagatCtcattgcgggggtcaaaggg	18	4	2	3	rs35755034	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:24729687C>T	ENST00000206765.6	-	4	849	c.726G>A	c.(724-726)gaG>gaA	p.E242E	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	242					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)	GGATGTAGATCTCATTGCGGG	0.587													C|||	291	0.058107	0.0923	0.0231	5008	,	,		20751	0.0754		0.0199	False		,,,				2504	0.0583				p.E242E		.											.	TGM1-91	0			c.G726A						.	C		445,3961	215.8+/-234.7	19,407,1777	103	90	95		726	3.6	1	14	dbSNP_126	95	196,8404	85.6+/-148.0	3,190,4107	no	coding-synonymous	TGM1	NM_000359.2		22,597,5884	TT,TC,CC		2.2791,10.0999,4.9285		242/818	24729687	641,12365	2203	4300	6503	SO:0001819	synonymous_variant	7051	exon4			GTAGATCTCATTG	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.726G>A	14.37:g.24729687C>T		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	162	6	NM_000359	0	0	0	0	0	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																			C|0.952;T|0.048		0.587	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		T	24729687	C	T	24729687	2	4	17	1	0	0	0	0	0	0	0	1	15876	912	32	3		3	TGM1	14	24729687	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	183572	24729687	82619853	69	3450											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	41	13	NM_001127258	0	0	0	0	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	17	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	75412002	100141689	7207851	70	3451											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001823	0	0	0	51	51	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	17	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	3846491	103988180	3361360	71	3452											
C14orf180	400258	hgsc.bcm.edu	37	chr14	105054934	105054934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccggccggcccaggccAcacggcggctccctgctcct	13	20	0	0	rs12880814	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:105054934A>G	ENST00000557649.1	+	5	633	c.297A>G	c.(295-297)ccA>ccG	p.P99P	RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000331952.2_Intron|C14orf180_ENST00000410013.1_Silent_p.P99P			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GGCCCAGGCCACACGGCGGCT	0.731													A|||	2110	0.421326	0.7436	0.2911	5008	,	,		14114	0.6002		0.0994	False		,,,				2504	0.2249				p.P99P		.											.	C14orf180-492	0			c.A297G						.	A		1749,1969		425,899,535	4	4	4		297	-2.2	0	14	dbSNP_121	4	533,6777		29,475,3151	no	coding-synonymous	C14orf180	NM_001008404.1		454,1374,3686	GG,GA,AA		7.2914,47.0414,20.6928		99/161	105054934	2282,8746	1859	3655	5514	SO:0001819	synonymous_variant	400258	exon5			CAGGCCACACGGC		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.297A>G	14.37:g.105054934A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_001008404	0	0	0	0	0		Silent	SNP	ENST00000557649.1	37	CCDS32166.1																																																																																			A|0.615;G|0.385		0.731	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		G	105054934	A	G	105054934	2	3	17	1	0	0	0	0	0	0	0	1	1768	146	6	4		4	C14orf180	14	105054934	Silent	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	1066754	105054934	2294606	72	3453											
C14orf180	400258	hgsc.bcm.edu	37	chr14	105055119	105055127	+	Stop_Codon_Del	DEL	GACGGGCAG	GACGGGCAG	-													gcgcggcctcctgcggctctGacgggcaggacgggcaggac					rs111285011|rs569942489|rs11278058	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	GACGGGCAG	GACGGGCAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr14:105055119_105055127delGACGGGCAG	ENST00000557649.1	+	0	818_826				RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000331952.2_In_Frame_Del_p.TGR153del|C14orf180_ENST00000410013.1_Stop_Codon_Del			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CTGCGGCTCTgacgggcaggacgggcagg	0.718														3012	0.601438	0.8079	0.6095	5008	,	,		14598	0.6954		0.4235	False		,,,				2504	0.4029				p.161_161del		.											.	C14orf180-492	0			c.482_784del						.			1070,740		494,82,329						3	0.1		dbSNP_132	3	1279,3127		502,275,1426	no	coding	C14orf180	NM_001008404.1		996,357,1755	A1A1,A1R,RR		29.0286,40.884,37.7896				2349,3867				SO:0001567	stop_retained_variant	400258	exon5			GGCTCTGACGGGC		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	Exception_encountered	14.37:g.105055128_105055136delGACGGGCAG		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	28	6	NM_001008404	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000557649.1	37	CCDS32166.1																																																																																			-|1.000;|0.000		0.718	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		-	105055127	GACGGGCAG	-	105055119	7	5	17	1	0	1	0	1	0	0	0	0	1768	1285	45	0	496	0	C14orf180	14	105055119	Stop_Codon_Del	DEL	GACGGGCAG	TCGA-OR-A5JL-01A-11D-A29I-10	185	105055119	2294421	73	3454											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_171846	0	0	0	2	2	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	17	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10		63414083	39117309	74	3455											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	17	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	1955312	65369395	37161997	75	3456											
ADAMTS7	11173	hgsc.bcm.edu	37	chr15	79066581	79066581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgccatcgaccacggcGtcccgcagcttctcggcaaa	13	15	1	0	rs74405922	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr15:79066581G>A	ENST00000388820.4	-	13	2148	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	646	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGACCACGGCGTCCCGCAGCT	0.627													G|||	515	0.102835	0	0.2118	5008	,	,		17155	0.3562		0	False		,,,				2504	0.0092				p.D646D		.											.	ADAMTS7-226	0			c.C1938T						.	G		9,4167		0,9,2079	18	15	16		1938	1.2	1	15	dbSNP_131	16	9,7997		0,9,3994	no	coding-synonymous	ADAMTS7	NM_014272.3		0,18,6073	AA,AG,GG		0.1124,0.2155,0.1478		646/1687	79066581	18,12164	2088	4003	6091	SO:0001819	synonymous_variant	11173	exon13			CACGGCGTCCCGC	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.1938C>T	15.37:g.79066581G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_014272	0	0	0	2	2	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			G|0.946;A|0.054		0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79066581	G	A	79066581	2	1	17	1	0	0	0	0	0	0	0	1	271	1136	40	1		1	ADAMTS7	15	79066581	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	13697186	79066581	23464811	76	3457											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304626	3304626	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgacagccccctcccggcctCgggctggctgcaccgcaggc	13	20	0	0	rs3743930	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:3304626C>G	ENST00000219596.1	-	2	481	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	148			E -> Q (in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients; dbSNP:rs3743930). {ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:10612841, ECO:0000269|PubMed:10737995, ECO:0000269|PubMed:10787449, ECO:0000269|PubMed:10854105, ECO:0000269|PubMed:16378925}.|E -> V (in arFMF). {ECO:0000269|PubMed:16378925}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTCCCGGCCTCGGGCTGGCTG	0.736													C|||	633	0.126398	0.0204	0.0115	5008	,	,		11465	0.2887		0.0089	False		,,,				2504	0.3047				p.E148Q		.											.	MEFV-228	0			c.G442C	GRCh37	CM981240	MEFV	M	rs3743930	.	C	GLN/GLU,	44,4188		0,44,2072	10	12	11	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	442,	3.4	0.1	16	dbSNP_107	11	97,8257		0,97,4080	yes	missense,intron	MEFV	NM_000243.2,NM_001198536.1	29,	0,141,6152	GG,GC,CC		1.1611,1.0397,1.1203	probably-damaging,	148/782,	3304626	141,12445	2116	4177	6293	SO:0001583	missense	4210	exon2			CGGCCTCGGGCTG	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.442G>C	16.37:g.3304626C>G	ENSP00000219596:p.Glu148Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	18	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	180	0.08241758241758242	15	0.03048780487804878	4	0.011049723756906077	154	0.2692307692307692	7	0.009234828496042216	C	16.28	3.077868	0.55753	0.010397	0.011611	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.77098	-1.07	4.39	3.44	0.39384	.	0.131490	0.35207	N	0.003372	T	0.00039	0.0001	L	0.36672	1.1	0.37393	P	0.087472	D	0.65815	0.995	P	0.59056	0.851	T	0.03524	-1.1028	9	0.72032	D	0.01	-37.1902	8.7109	0.34382	0.0:0.898:0.0:0.102	rs3743930	148	O15553	MEFV_HUMAN	Q	148	ENSP00000219596:E148Q	ENSP00000219596:E148Q	E	-	1	0	MEFV	3244627	0.103000	0.21917	0.067000	0.19924	0.046000	0.14306	1.142000	0.31540	1.441000	0.47550	0.563000	0.77884	GAG	C|0.239;G|0.761		0.736	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		G	3304626	C	G	3304626	3	3	17	1	0	0	0	0	1	0	0	0	9497	893	31	2	1939	2	MEFV	16	3304626	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		3304626	87050127	77	3458											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	17	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	54258178	57562804	32791949	78	3459											
KCTD19	146212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67335694	67335694	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtttcctggcgacatacCcatgttcatccggtaccacc	8	14	1	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:67335694C>A	ENST00000304372.5	-	5	830	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	259					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCGACATACCCATGTTCATC	0.498																																					p.G259C		.											.	KCTD19-69	0			c.G775T						.						183	186	185					16																	67335694		1926	4134	6060	SO:0001630	splice_region_variant	146212	exon5			ACATACCCATGTT	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.775+1G>T	16.37:g.67335694C>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	118	45	NM_001100915	0	0	0	0	0	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759124	0.69763	.	.	ENSG00000168676	ENST00000304372	T	0.61859	0.07	6.17	6.17	0.99709	.	0.156689	0.45606	D	0.000355	T	0.51975	0.1706	N	0.19112	0.55	0.46149	D	0.998895	P	0.51791	0.948	P	0.48901	0.594	T	0.44528	-0.9322	9	.	.	.	-2.8684	17.5987	0.88020	0.0:1.0:0.0:0.0	.	259	Q17RG1	KCD19_HUMAN	C	259	ENSP00000305702:G259C	.	G	-	1	0	KCTD19	65893195	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.334000	0.59291	2.941000	0.99782	0.655000	0.94253	GGT	.		0.498	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	Missense_Mutation	A	67335694	C	A	67335694	5	1	17	1	0	0	0	0	0	0	1	0	8133	637	22	3	2053	3	KCTD19	16	67335694	Splice_Site	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	9772890	67335694	23019059	79	3460											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	17	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JL-01A-11D-A29I-10	21264003	88599697	1755056	80	3461											
RPL13	6137	hgsc.bcm.edu	37	chr16	89627671	89627671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcgcgccgcatcgcCccgcgccccgcgtcgggtcc	14	21	0	0	rs174035	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPL13_ENST00000567815.1_Silent_p.A47A|RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000452368.3_Silent_p.A47A|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3	4	3		141,141	0.9	1	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_001243131	1	1	13	254	239	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627671	C	T	89627671	2	4	17	1	0	0	0	0	0	0	0	1	13604	610	22	3		3	RPL13	16	89627671	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	1027974	89627671	727082	81	3462											
SPIRE2	84501	bcgsc.ca	37	chr16	89921057	89921057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacaagctgcgcaaggtcAtggtgagcggggcagacgca	15	10	1	2	rs139065194		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr16:89921057A>G	ENST00000378247.3	+	5	932	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	SPIRE2_ENST00000393062.2_Missense_Mutation_p.M297V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	297					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)		GCGCAAGGTCATGGTGAGCGG	0.652																																					p.M297V		.											.	SPIRE2-90	0			c.A889G						.	A	VAL/MET	0,4390		0,0,2195	61	62	62		889	5.2	1	16	dbSNP_134	62	1,8589	1.2+/-3.3	0,1,4294	yes	missense	SPIRE2	NM_032451.1	21	0,1,6489	GG,GA,AA		0.0116,0.0,0.0077	benign	297/715	89921057	1,12979	2195	4295	6490	SO:0001583	missense	84501	exon5			AAGGTCATGGTGA	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.889A>G	16.37:g.89921057A>G	ENSP00000367494:p.Met297Val	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	138	9	NM_032451	0	0	0	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040345	0.75732	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.49139	0.79;0.79	5.22	5.22	0.72569	.	0.035075	0.85682	D	0.000000	T	0.58793	0.2147	M	0.71036	2.16	0.80722	D	1	B;P;B	0.46859	0.095;0.885;0.095	B;P;B	0.51229	0.09;0.663;0.09	T	0.62779	-0.6782	10	0.54805	T	0.06	-57.4475	14.2172	0.65800	1.0:0.0:0.0:0.0	.	297;249;297	Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	V	297	ENSP00000367494:M297V;ENSP00000376782:M297V	ENSP00000367494:M297V	M	+	1	0	SPIRE2	88448558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.611000	0.61162	2.106000	0.64143	0.459000	0.35465	ATG	A|1.000;G|0.000		0.652	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		G	89921057	A	G	89921057	3	3	17	1	0	0	0	0	1	0	0	0	15119	217	8	4	907	4	SPIRE2	16	89921057	Missense_Mutation	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	293386	89921057	433696	82	3463											
TM4SF5	9032	broad.mit.edu;bcgsc.ca	37	chr17	4685848	4685848	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgcttggtgccatctaCtgcctctcggtgtctggagc	15	11	3	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:4685848C>G	ENST00000270560.3	+	3	340	c.309C>G	c.(307-309)taC>taG	p.Y103*		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	103						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						GTGCCATCTACTGCCTCTCGG	0.597																																					p.Y103X		.											.	TM4SF5-91	0			c.C309G						.						134	116	122					17																	4685848		2203	4300	6503	SO:0001587	stop_gained	9032	exon3			CATCTACTGCCTC	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.309C>G	17.37:g.4685848C>G	ENSP00000270560:p.Tyr103*	Somatic	275	1		WXS	Illumina GAIIx	Phase_I	181	17	NM_003963	0	0	0	0	0	Q17RW9|Q6IB79	Nonsense_Mutation	SNP	ENST00000270560.3	37	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045725	0.75846	.	.	ENSG00000142484	ENST00000270560	.	.	.	5.36	-0.0772	0.13720	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6809	8.9851	0.35988	0.0:0.6028:0.0:0.3972	.	.	.	.	X	103	.	ENSP00000270560:Y103X	Y	+	3	2	TM4SF5	4632595	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	1.154000	0.31688	0.022000	0.15160	-0.258000	0.10820	TAC	.		0.597	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			G	4685848	C	G	4685848	4	3	17	1	0	0	0	0	0	1	0	0	16018	576	20	3	319	3	TM4SF5	17	4685848	Nonsense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		4685848	76509362	83	3464											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7574023	7574023	+	Frame_Shift_Del	DEL	C	C	-													ggaacatctcgaagcgctcaCgcccacggatctgcagcaac							TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:7574023delC	ENST00000269305.4	-	10	1193	c.1004delG	c.(1003-1005)cgtfs	p.R335fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R335fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	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	335	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> G (in a sporadic cancer; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (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.R335fs*2(2)|p.R335fs*10(2)|p.R335L(1)|p.?(1)|p.I332fs*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)	GAAGCGCTCACGCCCACGGAT	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R335fs	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	15	Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)	large_intestine(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)	c.1004delG						.						53	42	46					17																	7574023		2203	4300	6503	SO:0001589	frameshift_variant	7157	exon10	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;	CGCTCACGCCCAC	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.1004delG	17.37:g.7574023delC	ENSP00000269305:p.Arg335fs	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	105	69	NM_000546	0	0	0	0	0	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																																																																																			.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7574023	C	-	7574023	7	5	17	1	0	1	0	1	0	0	0	0	16429	536	19	0	185	0	TP53	17	7574023	Frame_Shift_Del	DEL	C	TCGA-OR-A5JL-01A-11D-A29I-10	2888175	7574023	73621187	84	3465											
KDM6B	23135	hgsc.bcm.edu	37	chr17	7750176	7750177	+	Missense_Mutation	DNP	TT	TT	CC													tgccactgcctccaccaccaTtaccaccaccaccaccacca					rs375218857|rs61462443		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:7750176_7750177TT>CC	ENST00000448097.2	+	9	1082_1083	c.751_752TT>CC	c.(751-753)TTa>CCa	p.L251P	KDM6B_ENST00000254846.5_Missense_Mutation_p.L251P			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						tccaccaccattaccaccacca	0.614																																					p.L251P		.											.	KDM6B-205	0			c.T752C						.																																			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		Exception_encountered	17.37:g.7750176_7750177delinsCC	ENSP00000412513:p.Leu251Pro	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	10	1	NM_001080424	0	0	0	0	0	C9IZ40|Q96G33	Missense_Mutation	DNP	ENST00000448097.2	37																																																																																				.		0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		CC	7750177	TT	CC	7750176	3	2	17	1	0	0	0	0	1	0	0	0	8165	1490	52	4	773	4	KDM6B	17	7750176	Missense_Mutation	DNP	TT	TCGA-OR-A5JL-01A-11D-A29I-10	176153	7750176	73445034	85	3466											
MRM1	79154	broad.mit.edu	37	chr17	34958405	34958405	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcttctgtttggcatgAccccgtgtctcctggctctg	12	12	3	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:34958405A>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'UTR|MRM1_ENST00000250156.7_Missense_Mutation_p.T56P	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GTTTGGCATGACCCCGTGTCT	0.697																																					p.T56P		.											.	MRM1-90	0			c.A166C						.						63	64	64					17																	34958405		2203	4300	6503	SO:0001628	intergenic_variant	79922	exon1			GGCATGACCCCGT		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958405A>C		Somatic	51	16		WXS	Illumina GAIIx	Phase_I	77	20	NM_024864	0	0	8	8	0	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	T	7.164	0.586358	0.13749	.	.	ENSG00000129282	ENST00000250156	T	0.29655	1.56	4.79	2.38	0.29361	RNA 2-O ribose methyltransferase, substrate binding (2);	0.121018	0.56097	D	0.000034	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B	0.22604	0.072	B	0.21360	0.034	T	0.06391	-1.0829	10	0.66056	D	0.02	-7.1167	6.3	0.21107	0.1478:0.0:0.4096:0.4426	.	56	Q6IN84	MRM1_HUMAN	P	56	ENSP00000250156:T56P	ENSP00000250156:T56P	T	+	1	0	MRM1	32032518	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	0.998000	0.29744	0.404000	0.25506	-0.376000	0.06991	ACC	.		0.697	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		C	34958405	A	C	34958405	1	2	17	0	1	0	0	0	0	0	0	0	9809	275	10	5		5	MRM1	17	34958405	IGR	SNP	A	TCGA-OR-A5JL-01A-11D-A29I-10	27208229	34958405	46236805	86	3467											
KRT36	8689	bcgsc.ca	37	chr17	39643646	39643646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctctagcgcgttgaccGtacgtctcagctcgatgatc	9	13	2	2	rs2301354	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:39643646G>A	ENST00000328119.6	-	5	943	c.944C>T	c.(943-945)aCg>aTg	p.T315M	KRT36_ENST00000393986.2_Missense_Mutation_p.T265M	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	315	Coil 2.|Rod.		T -> M (in dbSNP:rs2301354).		regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGCGTTGACCGTACGTCTCAG	0.637													G|||	2426	0.484425	0.4024	0.5447	5008	,	,		19858	0.3323		0.5398	False		,,,				2504	0.6524				p.T315M		.											.	KRT36-90	0			c.C944T						.	G	MET/THR	1824,2582	531.5+/-373.2	374,1076,753	76	55	62		944	1.1	0.9	17	dbSNP_100	62	4702,3898	605.3+/-394.9	1277,2148,875	yes	missense	KRT36	NM_003771.4	81	1651,3224,1628	AA,AG,GG		45.3256,41.3981,49.8232	benign	315/468	39643646	6526,6480	2203	4300	6503	SO:0001583	missense	8689	exon5			TTGACCGTACGTC	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.944C>T	17.37:g.39643646G>A	ENSP00000329165:p.Thr315Met	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_003771	0	0	0	0	0	Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	992	0.4542124542124542	192	0.3902439024390244	222	0.6132596685082873	169	0.29545454545454547	409	0.5395778364116095	G	14.11	2.436719	0.43224	0.413981	0.546744	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.89343	-2.5;-2.5	5.95	1.13	0.20643	Filament (1);	0.292907	0.24162	N	0.040964	T	0.00012	0.0000	M	0.82132	2.575	0.48288	P	3.790000000000182E-4	P	0.43826	0.818	B	0.41571	0.36	T	0.44997	-0.9291	9	0.72032	D	0.01	.	17.8773	0.88829	0.0:0.0:0.5399:0.4601	rs2301354;rs17581044;rs59835513;rs2301354	315	O76013	KRT36_HUMAN	M	265;315	ENSP00000377555:T265M;ENSP00000329165:T315M	ENSP00000329165:T315M	T	-	2	0	KRT36	36897172	0.000000	0.05858	0.929000	0.37066	0.676000	0.39594	-0.279000	0.08479	0.389000	0.25086	0.655000	0.94253	ACG	G|0.523;A|0.477		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		A	39643646	G	A	39643646	3	1	17	1	0	0	0	0	1	0	0	0	8500	1145	40	1	471	1	KRT36	17	39643646	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	4685241	39643646	41551564	87	3468											
PRKAR1A	5573	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	66511671	66511695	+	Frame_Shift_Del	DEL	AGAGACCCATGGCATTCCTCAGGGA	AGAGACCCATGGCATTCCTCAGGGA	-													gttgtgcactgctcgacctgAgagacccatggcattcctca					rs201472242|rs281864789|rs548529083|rs145590804		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	AGAGACCCATGGCATTCCTCAGGGA	AGAGACCCATGGCATTCCTCAGGGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr17:66511671_66511695delAGAGACCCATGGCATTCCTCAGGGA	ENST00000589228.1	+	2	259_283	c.131_155delAGAGACCCATGGCATTCCTCAGGGA	c.(130-156)gagagacccatggcattcctcagggaafs	p.ERPMAFLRE44fs	PRKAR1A_ENST00000588188.2_Frame_Shift_Del_p.ERPMAFLRE44fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.ERPMAFLRE44fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.ERPMAFLRE44fs|PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.ERPMAFLRE44fs|PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.ERPMAFLRE44fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	44	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GCTCGACCTGAGAGACCCATGGCATTCCTCAGGGAATACTTTGAG	0.436			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.44_52del	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	0			c.131_155del	GRCh37	CX056494	PRKAR1A	X		.																																			SO:0001589	frameshift_variant	5573	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	GACCTGAGAGACC		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.131_155delAGAGACCCATGGCATTCCTCAGGGA	17.37:g.66511671_66511695delAGAGACCCATGGCATTCCTCAGGGA	ENSP00000464977:p.Glu44fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	39	11	NM_001276290	0	0	0	0	0	K7ER48|Q567S7	Frame_Shift_Del	DEL	ENST00000589228.1	37	CCDS11678.1																																																																																			.		0.436	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			-	66511695	AGAGACCCATGGCATTCCTCAGGGA	-	66511671	7	5	17	1	0	1	0	1	0	0	0	0	12545	304	11	0	133	0	PRKAR1A	17	66511671	Frame_Shift_Del	DEL	AGAGACCCATGGCATTCCTCAGGGA	TCGA-OR-A5JL-01A-11D-A29I-10	26868025	66511671	14683539	88	3469											
SOCS6	9306	broad.mit.edu;bcgsc.ca	37	chr18	67993002	67993002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgcaaagtagtggtccCatggttgtgacaagccttac	11	9	1	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr18:67993002C>T	ENST00000397942.3	+	2	1414	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	SOCS6_ENST00000582322.1_Silent_p.P366P	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	366					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTAGTGGTCCCATGGTTGTGA	0.488																																					p.P366P	Melanoma(84;1024 1361 24382 36583 42651)	.											.	SOCS6-721	0			c.C1098T						.						90	86	87					18																	67993002		2203	4300	6503	SO:0001819	synonymous_variant	9306	exon2			TGGTCCCATGGTT	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1098C>T	18.37:g.67993002C>T		Somatic	215	0		WXS	Illumina GAIIx	Phase_I	180	7	NM_004232	0	0	13	13	0	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																			.		0.488	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67993002	C	T	67993002	2	4	17	1	0	0	0	0	0	0	0	1	14963	581	21	3		3	SOCS6	18	67993002	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		67993002	10084246	89	3470											
POLRMT	5442	hgsc.bcm.edu	37	chr19	621561	621561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaccaggtccagcaCgcgcccgttgacgcgccagg	13	17	0	1	rs10421235	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:621561C>A	ENST00000588649.2	-	10	2221	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	713					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCAGCACGCGCCCGTTG	0.741													C|||	677	0.135184	0.2254	0.0461	5008	,	,		10089	0.0764		0.0258	False		,,,				2504	0.2495				p.V713L		.											.	POLRMT-92	0			c.G2137T						.	C	LEU/VAL	447,3185		14,419,1383	4	3	3		2137	2.1	0.5	19	dbSNP_119	3	143,6993		2,139,3427	no	missense	POLRMT	NM_005035.3	32	16,558,4810	AA,AC,CC		2.0039,12.3073,5.4792	benign	713/1231	621561	590,10178	1816	3568	5384	SO:0001583	missense	5442	exon10			CCAGCACGCGCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2137G>T	19.37:g.621561C>A	ENSP00000465759:p.Val713Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	5	NM_005035	0	0	12	12	0	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	179	0.08195970695970696	98	0.1991869918699187	23	0.06353591160220995	41	0.07167832167832168	17	0.022427440633245383	.	1.831	-0.469877	0.04445	0.123073	0.020039	ENSG00000099821	ENST00000215591	T	0.41400	1.0	4.38	2.07	0.26955	DNA-directed RNA polymerase, helix hairpin domain (1);	0.337088	0.28971	N	0.013545	T	0.00039	0.0001	L	0.28274	0.84	0.40284	P	0.021571000000000007	B	0.21520	0.057	B	0.21708	0.036	T	0.23226	-1.0194	9	0.10636	T	0.68	-21.1616	7.9361	0.29931	0.0:0.4845:0.4232:0.0923	rs10421235	713	O00411	RPOM_HUMAN	L	713	ENSP00000215591:V713L	ENSP00000215591:V713L	V	-	1	0	POLRMT	572561	0.015000	0.18098	0.490000	0.27465	0.466000	0.32739	0.069000	0.14552	0.409000	0.25649	0.455000	0.32223	GTG	C|0.918;A|0.082		0.741	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	621561	C	A	621561	3	1	17	1	0	0	0	0	1	0	0	0	12277	536	19	2	1603	2	POLRMT	19	621561	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		621561	58507422	90	3471											
SHD	56961	bcgsc.ca	37	chr19	4280207	4280207	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggacccctatgaggacgcGgagagccgcttggagccgga	17	11	0	2	rs56261530	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:4280207G>C	ENST00000543264.2	+	1	1610	c.147G>C	c.(145-147)gcG>gcC	p.A49A	SHD_ENST00000599689.1_Silent_p.A49A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	49										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGGACGCGGAGAGCCGCT	0.672													G|||	171	0.0341454	0.0015	0.0389	5008	,	,		13047	0		0.0875	False		,,,				2504	0.0552				p.A49A		.											.	SHD-90	0			c.G147C						.	G		54,4352		0,54,2149	21	26	25		147	-9.2	0	19	dbSNP_129	25	711,7887		26,659,3614	no	coding-synonymous	SHD	NM_020209.3		26,713,5763	CC,CG,GG		8.2694,1.2256,5.8828		49/341	4280207	765,12239	2203	4299	6502	SO:0001819	synonymous_variant	56961	exon1			GGACGCGGAGAGC	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.147G>C	19.37:g.4280207G>C		Somatic	95	1		WXS	Illumina GAIIx	Phase_I	58	5	NM_020209	0	0	0	0	0	Q96NC2	Silent	SNP	ENST00000543264.2	37	CCDS12125.1																																																																																			G|0.945;C|0.055		0.672	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		C	4280207	G	C	4280207	2	2	17	1	0	0	0	0	0	0	0	1	14320	1103	39	2		2	SHD	19	4280207	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	3658646	4280207	54848776	91	3472											
DUS3L	56931	bcgsc.ca	37	chr19	5789565	5789565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggttctgtccctcgggccTcaggtgggccccagcgaagc	14	15	2	0	rs2436487	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:5789565T>C	ENST00000309061.7	-	3	649	c.553A>G	c.(553-555)Agg>Ggg	p.R185G	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	185			R -> G (in dbSNP:rs2436487). {ECO:0000269|PubMed:15489334}.				flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCCTCGGGCCTCAGGTGGGCC	0.721													C|||	2304	0.460064	0.8177	0.2349	5008	,	,		13189	0.5496		0.1948	False		,,,				2504	0.317				p.R185G		.											.	DUS3L-90	0			c.A553G						.	C	,GLY/ARG	2891,1425		1024,843,291	7	12	10		,553	4.5	0.9	19	dbSNP_100	10	1496,6988		140,1216,2886	no	intron,missense	DUS3L	NM_001161619.1,NM_020175.2	,125	1164,2059,3177	CC,CT,TT		17.6332,33.0167,34.2734	,benign	,185/651	5789565	4387,8413	2158	4242	6400	SO:0001583	missense	56931	exon3			CGGGCCTCAGGTG		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.553A>G	19.37:g.5789565T>C	ENSP00000311977:p.Arg185Gly	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	41	35	NM_020175	0	0	0	4	4	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	CCDS32880.1	905	0.4143772893772894	385	0.782520325203252	93	0.2569060773480663	281	0.49125874125874125	146	0.19261213720316622	C	0.773	-0.765146	0.02996	0.669833	0.176332	ENSG00000141994	ENST00000309061	T	0.17370	2.28	4.51	4.51	0.55191	Zinc finger, CCCH-type (1);	0.127872	0.53938	N	0.000056	T	0.00012	0.0000	N	0.00864	-1.135	0.51767	P	6.099999999997774E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.17167	-1.0378	9	0.12766	T	0.61	-2.8966	10.5357	0.45002	0.0:0.9026:0.0:0.0974	rs2436487;rs3760777;rs17845247;rs17858066;rs58221162;rs2436487	185	Q96G46	DUS3L_HUMAN	G	185	ENSP00000311977:R185G	ENSP00000311977:R185G	R	-	1	2	DUS3L	5740565	0.996000	0.38824	0.894000	0.35097	0.121000	0.20230	2.069000	0.41481	0.902000	0.36520	-0.320000	0.08662	AGG	T|0.554;C|0.446		0.721	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		C	5789565	T	C	5789565	3	2	17	1	0	0	0	0	1	0	0	0	4821	1550	54	4	1443	4	DUS3L	19	5789565	Missense_Mutation	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	1509358	5789565	53339418	92	3473											
KANK2	25959	hgsc.bcm.edu	37	chr19	11303817	11303817	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccaggcctggggctgGgggtcagcctgccgggcctg	21	12	1	0			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:11303817G>C	ENST00000586659.1	-	4	1253	c.939C>G	c.(937-939)ccC>ccG	p.P313P	KANK2_ENST00000355150.5_Silent_p.P313P|KANK2_ENST00000589359.1_Silent_p.P313P|KANK2_ENST00000589894.1_Silent_p.P313P|KANK2_ENST00000432929.2_Silent_p.P313P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	313					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTGGGGCTGGGGGTCAGCCT	0.716																																					p.P313P		.											.	KANK2-68	0			c.C939G						.						9	10	9					19																	11303817		2153	4218	6371	SO:0001819	synonymous_variant	25959	exon2			GGGCTGGGGGTCA	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.939C>G	19.37:g.11303817G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	33	25	NM_015493	0	0	0	1	1	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																			.		0.716	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		C	11303817	G	C	11303817	2	2	17	1	0	0	0	0	0	0	0	1	8004	1219	43	3		3	KANK2	19	11303817	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	5514252	11303817	47825166	93	3474											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	17	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	3830109	15133926	43995057	94	3475											
SBSN	374897	bcgsc.ca	37	chr19	36015652	36015652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgaaaggcgtgttgacCgaggcctgcaattcaaggac	13	8	1	3	rs17705633	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:36015652C>T	ENST00000452271.2	-	3	1738	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SBSN_ENST00000518157.1_Silent_p.S227S	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	570						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGTGTTGACCGAGGCCTGCA	0.597													C|||	500	0.0998403	0.0825	0.0951	5008	,	,		18374	0.0248		0.1581	False		,,,				2504	0.1442				p.S570S		.											.	SBSN-91	0			c.G1710A						.	C	,,	458,3948	216.1+/-234.9	22,414,1767	131	106	115		1710,447,681	2	1	19	dbSNP_123	115	1478,7122	280.8+/-294.7	137,1204,2959	no	coding-synonymous,coding-synonymous,coding-synonymous	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	,,	159,1618,4726	TT,TC,CC		17.186,10.3949,14.8854	,,	570/591,149/170,227/248	36015652	1936,11070	2203	4300	6503	SO:0001819	synonymous_variant	374897	exon3			GTTGACCGAGGCC	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1710G>A	19.37:g.36015652C>T		Somatic	177	3		WXS	Illumina GAIIx	Phase_I	115	5	NM_001166034	0	0	0	0	0	A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																			C|0.874;T|0.126		0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		T	36015652	C	T	36015652	2	4	17	1	0	0	0	0	0	0	0	1	13909	639	23	1		1	SBSN	19	36015652	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	20881726	36015652	23113331	95	3476											
BCAT2	587	broad.mit.edu	37	chr19	49309949	49309949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttatgaggcttctgtGtcatttccagctgcaggtct	10	10	4	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:49309949G>T	ENST00000316273.6	-	3	137	c.125C>A	c.(124-126)aCa>aAa	p.T42K	BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000597011.1_Missense_Mutation_p.T2K|BCAT2_ENST00000402551.1_Missense_Mutation_p.T2K|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000598162.1_Missense_Mutation_p.T42K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	42					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	AGGCTTCTGTGTCATTTCCAG	0.542																																					p.T42K		.											.	BCAT2-91	0			c.C125A						.						69	71	70					19																	49309949		2203	4300	6503	SO:0001583	missense	587	exon3			TTCTGTGTCATTT	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.125C>A	19.37:g.49309949G>T	ENSP00000322991:p.Thr42Lys	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	15	2	NM_001190	0	0	34	34	0	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309304	0.40895	.	.	ENSG00000105552	ENST00000316273;ENST00000402551	T;T	0.18338	2.26;2.22	5.17	4.04	0.47022	.	0.181219	0.49305	D	0.000142	T	0.15003	0.0362	M	0.66506	2.035	0.09310	N	1	P;P	0.45348	0.856;0.856	B;B	0.34385	0.181;0.181	T	0.35051	-0.9804	10	0.62326	D	0.03	-18.2764	7.6536	0.28363	0.0:0.2242:0.6144:0.1614	.	42;42	Q53EW7;O15382	.;BCAT2_HUMAN	K	42;2	ENSP00000322991:T42K;ENSP00000385161:T2K	ENSP00000322991:T42K	T	-	2	0	BCAT2	54001761	0.260000	0.24053	0.793000	0.32043	0.966000	0.64601	1.640000	0.37186	2.579000	0.87056	0.650000	0.86243	ACA	.		0.542	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			T	49309949	G	T	49309949	3	4	17	1	0	0	0	0	1	0	0	0	1356	1377	48	3	1089	3	BCAT2	19	49309949	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	13294297	49309949	9819034	96	3477											
SIGLEC12	89858	bcgsc.ca	37	chr19	52004743	52004743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctgcactgctcgaGctgggttgtttgtggccact	11	13	1	0	rs3810110	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:52004743G>A	ENST00000291707.3	-	1	300	c.245C>T	c.(244-246)gCt>gTt	p.A82V	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	82	Ig-like V-type 1.		A -> V (in dbSNP:rs3810110).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A82V(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACTGCTCGAGCTGGGTTGTT	0.572													g|||	2852	0.569489	0.5522	0.7248	5008	,	,		17154	0.369		0.6322	False		,,,				2504	0.6247				p.A82V		.											.	SIGLEC12-96	1	Substitution - Missense(1)	stomach(1)	c.C245T						.	G	VAL/ALA	2511,1895		723,1065,415	142	122	129		245	-3.7	0	19	dbSNP_107	129	5506,3094		1751,2004,545	yes	missense	SIGLEC12	NM_053003.2	64	2474,3069,960	AA,AG,GG		35.9767,43.0095,38.3592	benign	82/596	52004743	8017,4989	2203	4300	6503	SO:0001583	missense	89858	exon1			GCTCGAGCTGGGT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.245C>T	19.37:g.52004743G>A	ENSP00000291707:p.Ala82Val	Somatic	207	2		WXS	Illumina GAIIx	Phase_I	166	6	NM_053003	0	0	1	1	0	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	1222	0.5595238095238095	272	0.5528455284552846	253	0.6988950276243094	213	0.3723776223776224	484	0.6385224274406333	.	6.904	0.536379	0.13188	0.569905	0.640233	ENSG00000254521	ENST00000291707	T	0.22539	1.95	2.42	-3.74	0.04385	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.38531	1.155	0.80722	P	0.0	B	0.25105	0.118	B	0.12156	0.007	T	0.36480	-0.9746	8	0.66056	D	0.02	.	0.7216	0.00941	0.1573:0.2996:0.2172:0.3259	rs3810110;rs52812455;rs60698567;rs3810110	82	Q96PQ1	SIG12_HUMAN	V	82	ENSP00000291707:A82V	ENSP00000291707:A82V	A	-	2	0	SIGLEC12	56696555	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.317000	0.02707	-0.727000	0.04888	0.395000	0.25975	GCT	G|0.417;A|0.582		0.572	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52004743	G	A	52004743	3	1	17	1	0	0	0	0	1	0	0	0	14353	971	34	3	1647	3	SIGLEC12	19	52004743	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	2694794	52004743	7124240	97	3478											
LILRB3	11025	bcgsc.ca	37	chr19	54725992	54725992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctgagagggtgggtttGctgtaggctcctaggagaga	19	5	0	2	rs148339740	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Silent_p.S122S|LILRB3_ENST00000424807.1_Silent_p.S122S|LILRB3_ENST00000245620.9_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000407860.2_Silent_p.S122S|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_5'Flank			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507				p.S122S		.											.	LILRB3-93	0			c.C366T						.						62	40	48					19																	54725992		2132	3919	6051	SO:0001819	synonymous_variant	11025	exon4			GGGTTTGCTGTAG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.366C>T	19.37:g.54725992G>A		Somatic	220	1		WXS	Illumina GAIIx	Phase_I	117	8	NM_006864	0	0	0	0	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			G|0.881;A|0.119		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725992	G	A	54725992	2	1	17	1	0	0	0	0	0	0	0	1	8821	1310	46	3		3	LILRB3	19	54725992	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	2721249	54725992	4402991	98	3479											
ZNF419	79744	bcgsc.ca	37	chr19	58004346	58004346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaacccttaaaaagacaaGagggcagggtcccagttttg	11	8	0	3	rs2074076	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr19:58004346G>C	ENST00000221735.7	+	5	607	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	ZNF419_ENST00000426954.2_Missense_Mutation_p.E129Q|ZNF419_ENST00000354197.4_Missense_Mutation_p.E129Q|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.E142Q|ZNF419_ENST00000347466.6_Missense_Mutation_p.E109Q|ZNF419_ENST00000442920.2_Missense_Mutation_p.E128Q|ZNF419_ENST00000415379.2_Missense_Mutation_p.E95Q			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	141			E -> Q (in dbSNP:rs2074076). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAAAAGACAAGAGGGCAGGGT	0.507													G|||	3484	0.695687	0.5794	0.7262	5008	,	,		19751	0.6984		0.6839	False		,,,				2504	0.8405				p.E142Q		.											.	ZNF419-90	0			c.G424C						.	G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	2618,1788	628.1+/-395.0	781,1056,366	60	63	62		424,385,382,325,286,283,421	0.3	0	19	dbSNP_96	62	5967,2633	681.2+/-403.7	2035,1897,368	no	missense,missense,missense,missense,missense,missense,missense	ZNF419	NM_001098491.1,NM_001098492.1,NM_001098493.1,NM_001098494.1,NM_001098495.1,NM_001098496.1,NM_024691.3	29,29,29,29,29,29,29	2816,2953,734	CC,CG,GG		30.6163,40.581,33.992	benign,benign,benign,benign,benign,benign,benign	142/512,129/499,128/498,109/479,96/466,95/465,141/511	58004346	8585,4421	2203	4300	6503	SO:0001583	missense	79744	exon5			AGACAAGAGGGCA	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.421G>C	19.37:g.58004346G>C	ENSP00000221735:p.Glu141Gln	Somatic	339	1		WXS	Illumina GAIIx	Phase_I	289	11	NM_001098491	0	0	8	8	0	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	1477	0.6762820512820513	290	0.5894308943089431	258	0.712707182320442	410	0.7167832167832168	519	0.6846965699208444	G	2.762	-0.257605	0.05791	0.59419	0.693837	ENSG00000105136	ENST00000284020;ENST00000524372;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000521754;ENST00000221735;ENST00000521137	T;T;T;T;T;T;T;T;T	0.06849	3.37;3.38;3.32;3.38;3.25;3.25;5.4;3.36;6.97	2.48	0.261	0.15592	.	.	.	.	.	T	0.00012	0.0000	L	0.35793	1.09	0.80722	P	0.0	P;B;B;P;P;B	0.45827	0.596;0.0;0.0;0.743;0.867;0.0	B;B;B;B;P;B	0.44897	0.099;0.002;0.003;0.356;0.463;0.001	T	0.08953	-1.0697	8	0.21014	T	0.42	.	6.0755	0.19913	0.3047:0.0:0.6953:0.0	rs2074076;rs12983132;rs58731055	95;128;129;142;109;141	E9PFX9;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;ZN419_HUMAN	Q	144;129;142;129;129;128;142;109;95;96;141;108	ENSP00000388864:E142Q;ENSP00000390916:E129Q;ENSP00000346136:E129Q;ENSP00000414709:E128Q;ENSP00000299860:E109Q;ENSP00000392129:E95Q;ENSP00000428523:E96Q;ENSP00000221735:E141Q;ENSP00000429628:E108Q	ENSP00000221735:E141Q	E	+	1	0	ZNF419	62696158	0.029000	0.19370	0.008000	0.14137	0.319000	0.28217	0.923000	0.28757	0.353000	0.24079	0.205000	0.17691	GAG	G|0.324;C|0.676		0.507	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		C	58004346	G	C	58004346	3	2	17	1	0	0	0	0	1	0	0	0	17944	943	33	3	442	3	ZNF419	19	58004346	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	3278354	58004346	1124637	99	3480											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	15	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	17	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10		37377139	25648381	100	3481											
CYP24A1	1591	hgsc.bcm.edu;bcgsc.ca	37	chr20	52788140	52788140	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgattttgttgtccagcttCatcacttcccctggtttcat	6	11	3	1			TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr20:52788140C>T	ENST00000216862.3	-	3	912	c.519G>A	c.(517-519)atG>atA	p.M173I	CYP24A1_ENST00000395955.3_Missense_Mutation_p.M173I|CYP24A1_ENST00000395954.3_Missense_Mutation_p.M31I	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	173					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGTCCAGCTTCATCACTTCCC	0.517																																					p.M173I		.											.	CYP24A1-228	0			c.G519A						.						197	198	198					20																	52788140		2203	4300	6503	SO:0001583	missense	1591	exon3			CAGCTTCATCACT	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.519G>A	20.37:g.52788140C>T	ENSP00000216862:p.Met173Ile	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_000782	0	0	0	0	0	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017540	0.35606	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.78816	0.01;5.1;-1.21	4.56	4.56	0.56223	.	0.333602	0.37669	N	0.001990	T	0.70684	0.3252	L	0.40543	1.245	0.32246	N	0.572054	B;B;B	0.17667	0.007;0.002;0.023	B;B;B	0.15484	0.008;0.003;0.013	T	0.72786	-0.4188	10	0.39692	T	0.17	-15.9871	15.9787	0.80089	0.0:1.0:0.0:0.0	.	173;173;31	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	I	173;173;31	ENSP00000216862:M173I;ENSP00000379285:M173I;ENSP00000379284:M31I	ENSP00000216862:M173I	M	-	3	0	CYP24A1	52221547	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.939000	0.48995	2.087000	0.62958	0.558000	0.71614	ATG	.		0.517	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			T	52788140	C	T	52788140	3	4	17	1	0	0	0	0	1	0	0	0	4163	826	29	3	1061	3	CYP24A1	20	52788140	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	15411001	52788140	10237380	101	3482											
DIDO1	11083	hgsc.bcm.edu	37	chr20	61512420	61512420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccttccagccgtcctgctCggaccccgctgggggctttt	12	16	0	0	rs201746991	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr20:61512420C>T	ENST00000266070.4	-	16	5213	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1630K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1630					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)					CCGTCCTGCTCGGACCCCGCT	0.726													C|||	22	0.00439297	0	0	5008	,	,		12011	0.0188		0	False		,,,				2504	0.0031				p.E1630K	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G4888A						.	C	LYS/GLU,LYS/GLU	1,3821		0,1,1910	8	10	9		4888,4888	-2.7	0	20	dbSNP_134	9	1,7731		0,1,3865	no	missense,missense	DIDO1	NM_001193369.1,NM_033081.2	56,56	0,2,5775	TT,TC,CC		0.0129,0.0262,0.0173	benign,benign	1630/2241,1630/2241	61512420	2,11552	1911	3866	5777	SO:0001583	missense	11083	exon16			CCTGCTCGGACCC	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.4888G>A	20.37:g.61512420C>T	ENSP00000266070:p.Glu1630Lys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_001193369	0	0	1	1	0	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	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	C	6.464	0.453849	0.12283	2.62E-4	1.29E-4	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07908	3.15;3.15	5.06	-2.67	0.06059	.	1.370700	0.05547	N	0.566787	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.39210	-0.9625	10	0.07325	T	0.83	-0.0292	2.2889	0.04134	0.0969:0.2824:0.2501:0.3707	.	1630	Q9BTC0	DIDO1_HUMAN	K	1630	ENSP00000266070:E1630K;ENSP00000378752:E1630K	ENSP00000266070:E1630K	E	-	1	0	DIDO1	60982865	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.685000	0.05167	-0.683000	0.05190	0.655000	0.94253	GAG	C|0.995;T|0.005		0.726	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61512420	C	T	61512420	3	4	17	1	0	0	0	0	1	0	0	0	4536	893	31	1	1838	1	DIDO1	20	61512420	Missense_Mutation	SNP	C	TCGA-OR-A5JL-01A-11D-A29I-10	8724280	61512420	1513100	102	3483											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt	21	13	0	0	rs759609		TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	17	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10		20780097	30524469	103	3484											
SEC14L4	284904	ucsc.edu;bcgsc.ca	37	chr22	30891250	30891250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctcaccttctgagtTtgcagctcacactcatgcaa	7	15	4	1	rs9606738	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr22:30891250T>C	ENST00000255858.7	-	5	497	c.414A>G	c.(412-414)caA>caG	p.Q138Q	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.Q123Q|SEC14L4_ENST00000392772.2_Silent_p.Q84Q|SEC14L4_ENST00000381982.3_Silent_p.Q138Q|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)	138	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					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)	CCTTCTGAGTTTGCAGCTCAC	0.617													C|||	803	0.160343	0.1505	0.2867	5008	,	,		19102	0.0397		0.2296	False		,,,				2504	0.137				p.Q138Q		.											.	SEC14L4-91	0			c.A414G						.	C	,	732,3674		57,618,1528	47	41	43		414,414	2.8	0.3	22	dbSNP_119	43	1948,6652		219,1510,2571	no	coding-synonymous,coding-synonymous	SEC14L4	NM_001161368.1,NM_174977.3	,	276,2128,4099	CC,CT,TT		22.6512,16.6137,20.6059	,	138/361,138/407	30891250	2680,10326	2203	4300	6503	SO:0001819	synonymous_variant	284904	exon5			CTGAGTTTGCAGC	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.414A>G	22.37:g.30891250T>C		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	52	5	NM_001161368	0	0	0	0	0	A5D6W7|A6NCV4	Silent	SNP	ENST00000255858.7	37	CCDS13878.1																																																																																			T|0.824;C|0.176		0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		C	30891250	T	C	30891250	2	2	17	1	0	0	0	0	0	0	0	1	14029	1838	64	4		4	SEC14L4	22	30891250	Silent	SNP	T	TCGA-OR-A5JL-01A-11D-A29I-10	10111153	30891250	20413316	104	3485											
SEC14L4	284904	bcgsc.ca	37	chr22	30891294	30891294	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctcacagactttgatgcGcttccggatcatatcctgct	8	13	2	2	rs9606739	byFrequency	TCGA-OR-A5JL-01A-11D-A29I-10	TCGA-OR-A5JL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8f0c115d-1ae8-4660-8454-e09ef9150f48	11736376-4bb5-4a2d-b14a-f01a651e41eb	g.chr22:30891294G>C	ENST00000255858.7	-	5	453	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R109G|SEC14L4_ENST00000392772.2_Missense_Mutation_p.R70G|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R124G|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)	124	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		R -> G (in dbSNP:rs9606739).			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)	ACTTTGATGCGCTTCCGGATC	0.572													G|||	744	0.148562	0.1082	0.2839	5008	,	,		20716	0.0397		0.2296	False		,,,				2504	0.136				p.R124G		.											.	SEC14L4-91	0			c.C370G						.	G	GLY/ARG,GLY/ARG	563,3843	250.0+/-257.2	34,495,1674	73	63	67		370,370	2.6	0.1	22	dbSNP_119	67	1937,6663	340.1+/-323.5	217,1503,2580	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	125,125	251,1998,4254	CC,CG,GG		22.5233,12.778,19.2219	possibly-damaging,possibly-damaging	124/361,124/407	30891294	2500,10506	2203	4300	6503	SO:0001583	missense	284904	exon5			TGATGCGCTTCCG	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.370C>G	22.37:g.30891294G>C	ENSP00000255858:p.Arg124Gly	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_001161368	0	0	0	0	0	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	340	0.15567765567765568	63	0.12804878048780488	85	0.23480662983425415	22	0.038461538461538464	170	0.22427440633245382	g	12.30	1.897920	0.33535	0.12778	0.225233	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.9	2.62	0.31277	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.077270	0.52532	D	0.000077	T	0.00073	0.0002	L	0.54323	1.7	0.09310	P	1.0	B;P;B	0.45902	0.089;0.868;0.054	B;P;B	0.46718	0.167;0.525;0.039	T	0.02464	-1.1155	9	0.26408	T	0.33	-11.5328	11.6741	0.51419	0.0:0.0:0.4656:0.5344	rs9606739;rs17670888;rs52812792;rs9606739	70;109;124	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	G	124;109;70;124	ENSP00000255858:R124G;ENSP00000440848:R109G;ENSP00000376525:R70G;ENSP00000371412:R124G	ENSP00000255858:R124G	R	-	1	0	SEC14L4	29221294	0.996000	0.38824	0.144000	0.22314	0.468000	0.32798	2.707000	0.47143	1.161000	0.42604	0.655000	0.94253	CGC	G|0.832;C|0.167		0.572	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		C	30891294	G	C	30891294	3	2	17	1	0	0	0	0	1	0	0	0	14029	1087	38	2	888	2	SEC14L4	22	30891294	Missense_Mutation	SNP	G	TCGA-OR-A5JL-01A-11D-A29I-10	44	30891294	20413272	105	3486											
C1orf159	54991	broad.mit.edu	37	chr1	1019753	1019753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggactgtggcggggggAtcattgcagccttgaaaagg	17	7	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:1019753A>G	ENST00000379339.1	-	11	800	c.590T>C	c.(589-591)aTc>aCc	p.I197T	C1orf159_ENST00000379320.1_Missense_Mutation_p.I161T|C1orf159_ENST00000421241.2_Missense_Mutation_p.I161T|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.I161T|C1orf159_ENST00000448924.1_Missense_Mutation_p.I197T|C1orf159_ENST00000379319.1_Missense_Mutation_p.I161T			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	197						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGGCGGGGGGATCATTGCAGC	0.622																																					p.I161T		.											.	.	0			c.T482C						.						28	30	30					1																	1019753		2201	4298	6499	SO:0001583	missense	54991	exon9			GGGGGGATCATTG	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.590T>C	1.37:g.1019753A>G	ENSP00000368644:p.Ile197Thr	Somatic	47	7		WXS	Illumina GAIIx	Phase_I	47	8	NM_017891	0	0	0	0	0	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37		.	.	.	.	.	.	.	.	.	.	A	15.32	2.797716	0.50208	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999	.	.	.	3.66	3.66	0.41972	.	0.190179	0.42964	D	0.000633	T	0.66665	0.2812	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.65815	0.936;0.995;0.96;0.995	P;P;P;P	0.61003	0.654;0.882;0.523;0.844	T	0.70004	-0.4991	9	0.87932	D	0	-23.4528	10.5642	0.45163	1.0:0.0:0.0:0.0	.	161;197;161;161	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9	.;CA159_HUMAN;.;.	T	197;197;161;161;161;161;161;172	.	ENSP00000294576:I161T	I	-	2	0	C1orf159	1009616	0.631000	0.27164	0.990000	0.47175	0.962000	0.63368	1.572000	0.36461	1.651000	0.50673	0.459000	0.35465	ATC	.		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		G	1019753	A	G	1019753	3	3	18	1	0	0	0	0	1	0	0	0	2015	333	12	4	122	4	C1orf159	1	1019753	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		1019753	248230868	1	3487											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_003132	0	0	0	44	44	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	18	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	10100146	11119899	238130722	2	3488											
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	19518980	19518980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatacgcttcttacctcacCaccagcccggcgagaactgc	8	16	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:19518980C>A	ENST00000375254.3	-	10	1225	c.1198G>T	c.(1198-1200)Ggt>Tgt	p.G400C	UBR4_ENST00000375267.2_Missense_Mutation_p.G400C|UBR4_ENST00000375217.2_Missense_Mutation_p.G400C|UBR4_ENST00000375226.2_Missense_Mutation_p.G400C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	400					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTACCTCACCACCAGCCCGG	0.403																																					p.G400C		.											.	UBR4-612	0			c.G1198T						.						94	85	88					1																	19518980		2203	4300	6503	SO:0001583	missense	23352	exon10			CCTCACCACCAGC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1198G>T	1.37:g.19518980C>A	ENSP00000364403:p.Gly400Cys	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	210	17	NM_020765	0	0	0	0	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804827	0.90623	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.34472	1.4;1.39;1.37;1.36	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56920	-0.7899	10	0.72032	D	0.01	.	18.1764	0.89762	0.0:1.0:0.0:0.0	.	400	Q5T4S7	UBR4_HUMAN	C	400	ENSP00000364403:G400C;ENSP00000364416:G400C;ENSP00000364365:G400C;ENSP00000364374:G400C	ENSP00000364365:G400C	G	-	1	0	UBR4	19391567	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GGT	.		0.403	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19518980	C	A	19518980	3	1	18	1	0	0	0	0	1	0	0	0	16953	594	21	3	14741	3	UBR4	1	19518980	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	8399081	19518980	229731641	3	3489											
ECE1	1889	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	21599251	21599252	+	Frame_Shift_Ins	INS	-	-	GT													gttgctgaaggtcccccagcINSgtgagtggccatcagggact							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:21599251_21599252insGT	ENST00000374893.6	-	4	507_508	c.433_434insAC	c.(433-435)cgcfs	p.R145fs	ECE1_ENST00000436918.2_Frame_Shift_Ins_p.R145fs|ECE1_ENST00000357071.4_Frame_Shift_Ins_p.R133fs|ECE1_ENST00000264205.6_Frame_Shift_Ins_p.R142fs|ECE1_ENST00000415912.2_Frame_Shift_Ins_p.R129fs	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	145					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGTCCCCCAGCGTGAGTGGCCA	0.584																																					p.R145fs		.											.	ECE1-93	0			c.434_435insAC						.																																			SO:0001589	frameshift_variant	1889	exon4			CCCCAGCGTGAGT	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.432_433dupAC	1.37:g.21599252_21599253dupGT	ENSP00000364028:p.Arg145fs	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	319	87	NM_001397	0	0	0	0	0	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Frame_Shift_Ins	INS	ENST00000374893.6	37	CCDS215.1																																																																																			.		0.584	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		GT	21599252	-	GT	21599251	7	5	18	1	0	1	1	0	0	0	0	0	4903	768	27	0	1942	0	ECE1	1	21599251	Frame_Shift_Ins	INS	-	TCGA-OR-A5JP-01A-11D-A29I-10	2080271	21599251	227651370	4	3490											
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu	37	chr1	22191465	22191467	+	In_Frame_Del	DEL	GGA	GGA	-													atgctggccgccagcggcacGgaggagaacgtggcccggat					rs557975423		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	GGA	GGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:22191465_22191467delGGA	ENST00000374695.3	-	36	4574_4576	c.4495_4497delTCC	c.(4495-4497)tccdel	p.S1499del		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1499	Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGCGGCACGGAGGAGAACGTG	0.714																																					p.1499_1499del		.											.	HSPG2-141	0			c.4495_4497del						.																																			SO:0001651	inframe_deletion	3339	exon36			CGGCACGGAGGAG	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.4495_4497delTCC	1.37:g.22191468_22191470delGGA	ENSP00000363827:p.Ser1499del	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	96	29	NM_005529	0	0	0	0	0	Q16287|Q5SZI3|Q9H3V5	In_Frame_Del	DEL	ENST00000374695.3	37	CCDS30625.1																																																																																			.		0.714	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		-	22191467	GGA	-	22191465	7	5	18	1	0	1	0	1	0	0	0	0	7457	1103	39	0	8926	0	HSPG2	1	22191465	In_Frame_Del	DEL	GGA	TCGA-OR-A5JP-01A-11D-A29I-10	592214	22191465	227059156	5	3491											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	18	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	6947510	29138975	220111646	6	3492											
TIE1	7075	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	43779576	43779576	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctggctgcccttttaacCctggtgtgcatccgcagaag	10	13	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:43779576C>A	ENST00000372476.3	+	14	2425	c.2346C>A	c.(2344-2346)acC>acA	p.T782T	TIE1_ENST00000433781.2_Silent_p.T427T|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	782					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)				CCCTTTTAACCCTGGTGTGCA	0.647																																					p.T782T		.											.	TIE1-1404	0			c.C2346A						.						78	71	74					1																	43779576		2203	4300	6503	SO:0001819	synonymous_variant	7075	exon14			TTTAACCCTGGTG	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.2346C>A	1.37:g.43779576C>A		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	300	25	NM_005424	0	0	1	1	0	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																			.		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		A	43779576	C	A	43779576	2	1	18	1	0	0	0	0	0	0	0	1	15940	610	22	3		3	TIE1	1	43779576	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	14640601	43779576	205471045	7	3493											
C1orf87	127795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	60499262	60499262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgccatcttcaaaatctcCaacagactcctgttcacttc	4	14	4	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:60499262C>A	ENST00000371201.3	-	7	1022	c.915G>T	c.(913-915)ttG>ttT	p.L305F	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	305							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCAAAATCTCCAACAGACTCC	0.478																																					p.L305F	NSCLC(75;811 1386 4923 13371 51772)	.											.	C1orf87-154	0			c.G915T						.						180	165	170					1																	60499262		2203	4300	6503	SO:0001583	missense	127795	exon7			AATCTCCAACAGA	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.915G>T	1.37:g.60499262C>A	ENSP00000360244:p.Leu305Phe	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	150	24	NM_152377	0	0	0	0	0	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225234	0.39300	.	.	ENSG00000162598	ENST00000371201	T	0.24538	1.85	5.11	-0.726	0.11170	EF-hand-like domain (1);	0.891618	0.09356	N	0.813405	T	0.28632	0.0709	M	0.61703	1.905	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.20338	-1.0278	10	0.35671	T	0.21	-0.2744	0.8677	0.01207	0.1593:0.3649:0.1554:0.3204	.	305	Q8N0U7	CA087_HUMAN	F	305	ENSP00000360244:L305F	ENSP00000360244:L305F	L	-	3	2	C1orf87	60271850	0.075000	0.21258	0.093000	0.20910	0.185000	0.23345	0.060000	0.14342	0.221000	0.20879	-0.150000	0.13652	TTG	.		0.478	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		A	60499262	C	A	60499262	3	1	18	1	0	0	0	0	1	0	0	0	2071	593	21	3	749	3	C1orf87	1	60499262	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	16719686	60499262	188751359	8	3494											
LRRC7	57554	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	70493957	70493957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccaagccatggagtgcGtgttgagaattcaaatccaa	10	8	1	1	rs375559029		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:70493957G>A	ENST00000035383.5	+	16	1814	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.R600H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	595						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						CATGGAGTGCGTGTTGAGAAT	0.408																																					p.R595H		.											.	LRRC7-163	0			c.G1784A						.	G	HIS/ARG	0,4406		0,0,2203	93	94	94		1784	6.1	1	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC7	NM_020794.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	595/1538	70493957	1,13005	2203	4300	6503	SO:0001583	missense	57554	exon16			GAGTGCGTGTTGA		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.1784G>A	1.37:g.70493957G>A	ENSP00000035383:p.Arg595His	Somatic	203	1		WXS	Illumina GAIIx	Phase_I	211	43	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695966	0.48202	0.0	1.16E-4	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37915	1.17;1.24	6.06	6.06	0.98353	.	0.293833	0.38548	N	0.001652	T	0.13415	0.0325	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.03112	-1.1071	10	0.44086	T	0.13	.	15.145	0.72643	0.0:0.1405:0.8595:0.0	.	595	Q96NW7	LRRC7_HUMAN	H	600;595;418	ENSP00000309245:R600H;ENSP00000035383:R595H	ENSP00000035383:R595H	R	+	2	0	LRRC7	70266545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.627000	0.61276	2.880000	0.98712	0.650000	0.86243	CGT	.		0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70493957	G	A	70493957	3	1	18	1	0	0	0	0	1	0	0	0	9055	1145	40	1	1846	1	LRRC7	1	70493957	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	9994695	70493957	178756664	9	3495											
COL11A1	1301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	103487285	103487285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctcaaccactgctggttctCctttctgtcctttctctcca	5	16	4	0	rs541227218		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:103487285C>G	ENST00000370096.3	-	9	1598	c.1286G>C	c.(1285-1287)gGa>gCa	p.G429A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G313A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G441A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G390A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	429	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTGGTTCTCCTTTCTGTCC	0.353																																					p.G441A		.											.	COL11A1-586	0			c.G1322C						.						162	149	153					1																	103487285		2203	4300	6503	SO:0001583	missense	1301	exon9			GGTTCTCCTTTCT	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.1286G>C	1.37:g.103487285C>G	ENSP00000359114:p.Gly429Ala	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	129	48	NM_080629	0	0	11	17	6	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864751	0.71949	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-3.8;-3.8	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.987;0.998;0.998;0.995	D	0.99410	1.0930	10	0.62326	D	0.03	.	18.9067	0.92466	0.0:1.0:0.0:0.0	.	313;390;441;429	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	429;441;390;313;441	ENSP00000359114:G429A;ENSP00000351163:G441A;ENSP00000302551:G390A;ENSP00000426533:G313A;ENSP00000408640:G441A	ENSP00000302551:G390A	G	-	2	0	COL11A1	103259873	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.089000	0.64492	2.466000	0.83321	0.637000	0.83480	GGA	.		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103487285	C	G	103487285	3	3	18	1	0	0	0	0	1	0	0	0	3674	855	30	3	4370	3	COL11A1	1	103487285	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	32993328	103487285	145763336	10	3496											
SPAG17	200162	broad.mit.edu	37	chr1	118642324	118642324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatattttaatcacgctgGttataggaatgccaagctca	8	7	2	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:118642324G>T	ENST00000336338.5	-	6	799	c.734C>A	c.(733-735)aCc>aAc	p.T245N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	245						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATCACGCTGGTTATAGGAAT	0.433																																					p.T245N		.											.	SPAG17-158	0			c.C734A						.						97	95	96					1																	118642324		2203	4300	6503	SO:0001583	missense	200162	exon6			ACGCTGGTTATAG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.734C>A	1.37:g.118642324G>T	ENSP00000337804:p.Thr245Asn	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	78	3	NM_206996	0	0	0	0	0	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347089	0.41599	.	.	ENSG00000155761	ENST00000336338	T	0.68765	-0.35	5.67	3.76	0.43208	.	0.260402	0.44688	D	0.000425	T	0.36580	0.0972	L	0.29908	0.895	0.28373	N	0.919929	P	0.38504	0.634	B	0.31101	0.124	T	0.37430	-0.9706	10	0.59425	D	0.04	.	16.2315	0.82344	0.0:0.3627:0.6373:0.0	.	245	Q6Q759	SPG17_HUMAN	N	245	ENSP00000337804:T245N	ENSP00000337804:T245N	T	-	2	0	SPAG17	118443847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.927000	0.48900	1.414000	0.47017	0.563000	0.77884	ACC	.		0.433	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118642324	G	T	118642324	3	4	18	1	0	0	0	0	1	0	0	0	15026	1261	44	3	6109	3	SPAG17	1	118642324	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	15155039	118642324	130608297	11	3497											
RPRD2	23248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	150444740	150444740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggagccgatccagaccGtagagtccatccgagttcct	12	13	0	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:150444740G>A	ENST00000369068.4	+	11	3320	c.3316G>A	c.(3316-3318)Gta>Ata	p.V1106I	RPRD2_ENST00000401000.4_Missense_Mutation_p.V1080I|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1106						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						GATCCAGACCGTAGAGTCCAT	0.517																																					p.V1106I		.											.	RPRD2-23	0			c.G3316A						.						39	42	41					1																	150444740		1947	4143	6090	SO:0001583	missense	23248	exon11			CAGACCGTAGAGT	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.3316G>A	1.37:g.150444740G>A	ENSP00000358064:p.Val1106Ile	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	52	8	NM_015203	0	0	31	31	0	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277051	0.59758	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.57907	0.37;0.38	5.14	4.2	0.49525	.	0.165679	0.40908	D	0.000990	T	0.33440	0.0863	N	0.24115	0.695	0.80722	D	1	P;D	0.55800	0.954;0.973	B;P	0.47603	0.349;0.551	T	0.37267	-0.9713	10	0.87932	D	0	-8.1009	14.5222	0.67859	0.0:0.0:0.8523:0.1477	.	1106;1080	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	I	1080;1106	ENSP00000383785:V1080I;ENSP00000358064:V1106I	ENSP00000358064:V1106I	V	+	1	0	RPRD2	148711364	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	6.309000	0.72825	1.321000	0.45227	0.655000	0.94253	GTA	.		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150444740	G	A	150444740	3	1	18	1	0	0	0	0	1	0	0	0	13662	1145	40	1	3358	1	RPRD2	1	150444740	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	31802416	150444740	98805881	12	3498											
SLC27A3	11000	hgsc.bcm.edu	37	chr1	153748161	153748161	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgacccggaaggtcccgaggGgggctgcagcctggcctggc	18	14	0	0	rs34527123|rs587776392	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:153748161G>C	ENST00000368661.3	+	1	394	c.329G>C	c.(328-330)gGg>gCg	p.G110A	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G191A	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	110			G -> A (in dbSNP:rs34527123).		fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTCCCGAGGGGGGCTGCAGC	0.711													G|||	51	0.0101837	8e-04	0.0173	5008	,	,		13208	0.001		0.0328	False		,,,				2504	0.0041				p.G110A		.											.	SLC27A3-91	0			c.G329C						.	G	ALA/GLY	21,3907		0,21,1943	4	6	5		329	2.8	1	1	dbSNP_126	5	220,7654		2,216,3719	no	missense	SLC27A3	NM_024330.1	60	2,237,5662	CC,CG,GG		2.794,0.5346,2.042	possibly-damaging	110/731	153748161	241,11561	1964	3937	5901	SO:0001583	missense	11000	exon1			CCGAGGGGGGCTG	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.329G>C	1.37:g.153748161G>C	ENSP00000357650:p.Gly110Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_024330	0	0	2	5	3	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	40	0.018315018315018316	3	0.006097560975609756	8	0.022099447513812154	1	0.0017482517482517483	28	0.036939313984168866	G	15.58	2.876242	0.51801	0.005346	0.02794	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58210	0.35;0.4	3.71	2.78	0.32641	.	0.562171	0.15028	N	0.284627	T	0.13970	0.0338	N	0.14661	0.345	0.19300	N	0.999971	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.25751	T	0.34	-2.2657	8.9582	0.35832	0.0:0.2277:0.7723:0.0	rs34527123	110	Q5K4L6	S27A3_HUMAN	A	191;110	ENSP00000271857:G191A;ENSP00000357650:G110A	ENSP00000271857:G191A	G	+	2	0	SLC27A3	152014785	0.535000	0.26370	0.973000	0.42090	0.938000	0.57974	0.716000	0.25836	0.753000	0.32945	0.462000	0.41574	GGG	G|0.051;C|0.949		0.711	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		C	153748161	G	C	153748161	3	2	18	1	0	0	0	0	1	0	0	0	14572	1232	43	3	331	3	SLC27A3	1	153748161	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	3303421	153748161	95502460	13	3499											
TNR	7143	bcgsc.ca	37	chr1	175335234	175335234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggagatggaggtctcCgaggaggctgtcaccatgag	17	7	2	3	rs1385541	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:175335234C>T	ENST00000367674.2	-	11	2802	c.2094G>A	c.(2092-2094)tcG>tcA	p.S698S	TNR_ENST00000263525.2_Silent_p.S698S			Q92752	TENR_HUMAN	tenascin R	698	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGAGGTCTCCGAGGAGGCTG	0.522													C|||	832	0.166134	0.1483	0.1974	5008	,	,		22079	0.1042		0.2445	False		,,,				2504	0.1513				p.S698S		.											.	TNR-324	0			c.G2094A						.	C		604,3802	264.1+/-265.8	53,498,1652	116	94	102		2094	-11.8	0.5	1	dbSNP_88	102	2089,6511	360.6+/-332.0	258,1573,2469	no	coding-synonymous	TNR	NM_003285.2		311,2071,4121	TT,TC,CC		24.2907,13.7086,20.7058		698/1359	175335234	2693,10313	2203	4300	6503	SO:0001819	synonymous_variant	7143	exon11			GGTCTCCGAGGAG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2094G>A	1.37:g.175335234C>T		Somatic	222	2		WXS	Illumina GAIIx	Phase_I	276	7	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			C|0.809;T|0.191		0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175335234	C	T	175335234	2	4	18	1	0	0	0	0	0	0	0	1	16385	639	23	1		1	TNR	1	175335234	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	21587073	175335234	73915387	14	3500											
TSEN15	116461	bcgsc.ca	37	chr1	184023529	184023529	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatataggagatgccacccaAgtttatgtagcgttcttggt	11	7	1	1	rs1046934	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:184023529A>C	ENST00000361641.1	+	2	256	c.177A>C	c.(175-177)caA>caC	p.Q59H	TSEN15_ENST00000533373.1_Missense_Mutation_p.Q59H|TSEN15_ENST00000423085.2_Missense_Mutation_p.Q59H	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	59			Q -> H (in dbSNP:rs1046934).		mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						ATGCCACCCAAGTTTATGTAG	0.323													A|||	1517	0.302915	0.1233	0.3026	5008	,	,		16302	0.4504		0.327	False		,,,				2504	0.3691				p.Q59H		.											.	TSEN15-90	0			c.A177C						.	A	HIS/GLN,HIS/GLN	717,3689	297.0+/-284.5	55,607,1541	177	173	174		177,177	1.6	1	1	dbSNP_86	174	2989,5611	462.2+/-365.6	491,2007,1802	yes	missense,missense	TSEN15	NM_001127394.2,NM_052965.2	24,24	546,2614,3343	CC,CA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	34.7558,16.2733,28.4945	probably-damaging,probably-damaging	59/130,59/172	184023529	3706,9300	2203	4300	6503	SO:0001583	missense	116461	exon2			CACCCAAGTTTAT	AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"tRNA splicing endonuclease subunits"	16791	protein-coding gene	gene with protein product		608756	"chromosome 1 open reading frame 19", "tRNA splicing endonuclease 15 homolog (S. cerevisiae)"	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.177A>C	1.37:g.184023529A>C	ENSP00000355299:p.Gln59His	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	73	4	NM_001127394	0	0	18	18	0	B4DKP0|Q9BZQ5	Missense_Mutation	SNP	ENST00000361641.1	37	CCDS1361.1	703	0.3218864468864469	76	0.15447154471544716	112	0.30939226519337015	263	0.4597902097902098	252	0.3324538258575198	A	17.48	3.399957	0.62177	0.162733	0.347558	ENSG00000198860	ENST00000361641;ENST00000533373;ENST00000423085	T;T;T	0.49139	0.79;0.79;0.79	5.27	1.56	0.23342	tRNA-intron endonuclease, Sen15 domain (1);	0.053462	0.85682	N	0.000000	T	0.00012	0.0000	M	0.61703	1.905	0.21719	P	0.999571061	B;B	0.13145	0.007;0.002	B;B	0.18263	0.021;0.009	T	0.36016	-0.9765	9	0.72032	D	0.01	-14.3213	5.5494	0.17081	0.5737:0.3382:0.0881:0.0	rs1046934;rs3186920;rs3736959;rs17415534;rs52791391;rs58806237;rs1046934	59;59	B4DKP0;Q8WW01	.;SEN15_HUMAN	H	59	ENSP00000355299:Q59H;ENSP00000436996:Q59H;ENSP00000402002:Q59H	ENSP00000355299:Q59H	Q	+	3	2	TSEN15	182290152	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.476000	0.35420	0.094000	0.17404	0.528000	0.53228	CAA	A|0.705;C|0.295		0.323	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1			C	184023529	A	C	184023529	3	2	18	1	0	0	0	0	1	0	0	0	16659	69	3	5	183	5	TSEN15	1	184023529	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	8688295	184023529	65227092	15	3501											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	18	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	16857449	200880978	48369643	16	3502											
PLXNA2	5362	broad.mit.edu	37	chr1	208225716	208225716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtagactgccacgctGctcccagccccaaggtaatg	10	16	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:208225716G>T	ENST00000367033.3	-	15	3706	c.2949C>A	c.(2947-2949)agC>agA	p.S983R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	983	IPT/TIG 2.				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)		CTGCCACGCTGCTCCCAGCCC	0.557																																					p.S983R		.											.	PLXNA2-92	0			c.C2949A						.						105	100	102					1																	208225716		2203	4300	6503	SO:0001583	missense	5362	exon15			CACGCTGCTCCCA	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.2949C>A	1.37:g.208225716G>T	ENSP00000356000:p.Ser983Arg	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	94	4	NM_025179	0	0	4	4	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996434	0.74818	.	.	ENSG00000076356	ENST00000367033	T	0.77358	-1.09	5.46	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86757	0.1964	10	0.87932	D	0	.	12.7608	0.57363	0.1101:0.0:0.8899:0.0	.	983	O75051	PLXA2_HUMAN	R	983	ENSP00000356000:S983R	ENSP00000356000:S983R	S	-	3	2	PLXNA2	206292339	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	3.504000	0.53347	2.557000	0.86248	0.650000	0.86243	AGC	.		0.557	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208225716	G	T	208225716	3	4	18	1	0	0	0	0	1	0	0	0	12159	1310	46	3	2807	3	PLXNA2	1	208225716	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	7344738	208225716	41024905	17	3503											
JMJD4	65094	hgsc.bcm.edu	37	chr1	227923081	227923081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgccgcgtttctgccccGccagcgcctggggctccggg	17	17	1	0	rs7419238		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:227923081G>A	ENST00000366758.3	-	1	31	c.32C>T	c.(31-33)gCg>gTg	p.A11V	JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A11V	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	11			A -> V (in dbSNP:rs7419238). {ECO:0000269|PubMed:14702039}.							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)				TTTCTGCCCCGCCAGCGCCTG	0.741													A|||	5008	1	1	1	5008	,	,		11222	1		1	False		,,,				2504	1				p.A11V		.											.	JMJD4-226	0			c.C32T						.	A	VAL/ALA,VAL/ALA,	4035,1		2017,1,0	6	7	7		32,32,	2	0	1	dbSNP_116	7	8000,0		4000,0,0	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	64,64,	6017,1,0	AA,AG,GG		0.0,0.0248,0.0083	benign,benign,	11/448,11/464,	227923081	12035,1	2018	4000	6018	SO:0001583	missense	65094	exon1			TGCCCCGCCAGCG	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.32C>T	1.37:g.227923081G>A	ENSP00000355720:p.Ala11Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_023007	0	0	0	1	1	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	361|361	0.9972375690607734|0.9972375690607734	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	A|A	2.779|2.779	-0.253926|-0.253926	0.05829|0.05829	0.999752|0.999752	1.0|1.0	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	3.58|3.58	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	8|4	0.02654|.	T|.	1|.	.|.	5.7765|5.7765	0.18281|0.18281	0.6536:0.0:0.3464:0.0|0.6536:0.0:0.3464:0.0	rs7419238;rs58641567;rs7419238|rs7419238;rs58641567;rs7419238	11;11|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|W	11|4	ENSP00000355720:A11V|.	ENSP00000355720:A11V|.	A|R	-|-	2|1	0|2	JMJD4|JMJD4	225989704|225989704	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.100000|-0.100000	0.10990|0.10990	-0.047000|-0.047000	0.13423|0.13423	-0.268000|-0.268000	0.10319|0.10319	GCG|CGG	G|0.002;A|0.998		0.741	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227923081	G	A	227923081	3	1	18	1	0	0	0	0	1	0	0	0	7978	1087	38	1	1383	1	JMJD4	1	227923081	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	19697365	227923081	21327540	18	3504											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504669	228504669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg	17	15	2	0	rs61825302	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000366707.4_Silent_p.A2149A|OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000366709.4_Silent_p.A1634A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941				p.A5472A		.											.	OBSCN-403	0			c.G16416A						.		,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033	exon62			CTCTGCGCGGCTC	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.13545G>A	1.37:g.228504669G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.841;A|0.159		0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	18	1	0	0	0	0	0	0	0	1	10851	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	581588	228504669	20745952	19	3505											
SH3BP5L	80851	hgsc.bcm.edu	37	chr1	249106348	249106348	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagccccgcaccctcGgccccctcaatcccgctgtc	6	24	1	0	rs202116012	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr1:249106348G>C	ENST00000366472.5	-	7	2162	c.933C>G	c.(931-933)gcC>gcG	p.A311A	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.A279A	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	311										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)			CCGCACCCTCGGCCCCCTCAA	0.746													G|||	23	0.00459265	8e-04	0.0144	5008	,	,		12601	0		0.0119	False		,,,				2504	0				p.A311A		.											.	SH3BP5L-90	0			c.C933G						.	G		17,4377		0,17,2180	13	16	15		933	-8.6	0.4	1		15	135,8433		2,131,4151	no	coding-synonymous	SH3BP5L	NM_030645.1		2,148,6331	CC,CG,GG		1.5756,0.3869,1.1727		311/394	249106348	152,12810	2197	4284	6481	SO:0001819	synonymous_variant	80851	exon7			ACCCTCGGCCCCC	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.933C>G	1.37:g.249106348G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	8	NM_030645	0	1	17	24	6	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																			G|0.991;C|0.008		0.746	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		C	249106348	G	C	249106348	2	2	18	1	0	0	0	0	0	0	0	1	14293	1103	39	2		2	SH3BP5L	1	249106348	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	20601679	249106348	144273	20	3506											
MYT1L	23040	broad.mit.edu	37	chr2	1946857	1946859	+	In_Frame_Del	DEL	CTC	CTC	-													tcctcatcctcctcctcgatCtcctcctcctcctcccggtc							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:1946857_1946859delCTC	ENST00000399161.2	-	9	1147_1149	c.400_402delGAG	c.(400-402)gagdel	p.E134del	MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	134	Asp/Glu-rich.				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)		cctcctcgatctcctcctcctcc	0.576																																					p.134_134del		.											.	MYT1L-95	0			c.400_402del						.			33,3907		4,25,1941						0	0			94	58,7582		7,44,3769	no	coding	MYT1L	NM_015025.2		11,69,5710	A1A1,A1R,RR		0.7592,0.8376,0.7858				91,11489				SO:0001651	inframe_deletion	23040	exon9			CTCGATCTCCTCC	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.400_402delGAG	2.37:g.1946866_1946868delCTC	ENSP00000382114:p.Glu134del	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	223	8	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	In_Frame_Del	DEL	ENST00000399161.2	37																																																																																				.		0.576	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		-	1946859	CTC	-	1946857	7	5	18	1	0	1	0	1	0	0	0	0	10145	912	32	0	3220	0	MYT1L	2	1946857	In_Frame_Del	DEL	CTC	TCGA-OR-A5JP-01A-11D-A29I-10		1946857	241252516	21	3507											
ASAP2	8853	hgsc.bcm.edu	37	chr2	9533755	9533755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccgcccagccgcctccCgcagaagaagcctgcgccgg	12	19	0	2	rs370099908		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:9533755C>T	ENST00000281419.3	+	24	3003	c.2663C>T	c.(2662-2664)cCg>cTg	p.P888L	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.P843L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	888	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGCCGCCTCCCGCAGAAGAAG	0.677																																					p.P888L		.											.	ASAP2-90	0			c.C2663T						.	C	LEU/PRO,LEU/PRO	0,4332		0,0,2166	7	8	8		2528,2663	4.3	1	2		8	2,8440		0,2,4219	no	missense,missense	ASAP2	NM_001135191.1,NM_003887.2	98,98	0,2,6385	TT,TC,CC		0.0237,0.0,0.0157	benign,benign	843/962,888/1007	9533755	2,12772	2166	4221	6387	SO:0001583	missense	8853	exon24			GCCTCCCGCAGAA	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2663C>T	2.37:g.9533755C>T	ENSP00000281419:p.Pro888Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	33	16	NM_003887	0	0	6	10	4	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565700	0.27915	0.0	2.37E-4	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58358	0.34;2.3	5.39	4.32	0.51571	Src homology-3 domain (1);	1.179820	0.05754	N	0.603755	T	0.39384	0.1076	N	0.16743	0.435	0.26003	N	0.982095	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.07947	-1.0746	10	0.23302	T	0.38	.	11.5217	0.50555	0.0:0.8448:0.0:0.1552	.	843;888	O43150-2;O43150	.;ASAP2_HUMAN	L	888;843	ENSP00000281419:P888L;ENSP00000316404:P843L	ENSP00000281419:P888L	P	+	2	0	ASAP2	9451206	0.769000	0.28531	0.967000	0.41034	0.966000	0.64601	2.275000	0.43399	2.528000	0.85240	0.563000	0.77884	CCG	.		0.677	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		T	9533755	C	T	9533755	3	4	18	1	0	0	0	0	1	0	0	0	1012	652	23	1	2757	1	ASAP2	2	9533755	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	7586898	9533755	233665618	22	3508											
TMEM214	54867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27257050	27257050	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaagaaaccagggaacaaGaagcagccaaagaaggtggc	12	9	0	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:27257050G>A	ENST00000238788.9	+	2	329	c.267G>A	c.(265-267)aaG>aaA	p.K89K	TMEM214_ENST00000404032.3_Silent_p.K89K	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	89					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGGGAACAAGAAGCAGCCAA	0.547																																					p.K89K		.											.	TMEM214-115	0			c.G267A						.						64	67	66					2																	27257050		1987	4176	6163	SO:0001819	synonymous_variant	54867	exon2			GAACAAGAAGCAG		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.267G>A	2.37:g.27257050G>A		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	226	43	NM_017727	0	0	29	37	8	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	CCDS42664.1																																																																																			.		0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		A	27257050	G	A	27257050	2	1	18	1	0	0	0	0	0	0	0	1	16184	933	33	3		3	TMEM214	2	27257050	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	17723295	27257050	215942323	23	3509											
PLB1	151056	hgsc.bcm.edu;bcgsc.ca	37	chr2	28836923	28836923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcctgagaacccctcGgaatagtaactacacgtacc	7	15	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:28836923G>T	ENST00000327757.5	+	44	3199	c.3155G>T	c.(3154-3156)cGg>cTg	p.R1052L	PLB1_ENST00000422425.2_Missense_Mutation_p.R1041L|PLB1_ENST00000541605.1_Missense_Mutation_p.R17L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1052	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAACCCCTCGGAATAGTAAC	0.463																																					p.R1052L		.											.	PLB1-141	0			c.G3155T						.						134	129	131					2																	28836923		2203	4300	6503	SO:0001583	missense	151056	exon44			CCCCTCGGAATAG		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3155G>T	2.37:g.28836923G>T	ENSP00000330442:p.Arg1052Leu	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_153021	0	0	1	1	0	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.541|9.541	1.113355|1.113355	0.20795|0.20795	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|T;T;T	.|0.41400	.|1.0;1.0;2.64	5.69|5.69	-1.08|-1.08	0.09936|0.09936	.|.	.|1.007360	.|0.07974	.|N	.|0.984491	.|T	.|0.46014	.|0.1371	L|L	0.56340|0.56340	1.77|1.77	0.09310|0.09310	N|N	1|1	.|P;P	.|0.49783	.|0.928;0.881	.|P;B	.|0.50570	.|0.644;0.341	.|T	.|0.46119	.|-0.9214	.|10	.|0.51188	.|T	.|0.08	-5.2944|-5.2944	9.2695|9.2695	0.37661|0.37661	0.5201:0.0:0.4799:0.0|0.5201:0.0:0.4799:0.0	.|.	.|1041;1052	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	X|L	1040|1052;1041;17	.|ENSP00000330442:R1052L;ENSP00000416440:R1041L;ENSP00000437426:R17L	.|ENSP00000330442:R1052L	G|R	+|+	1|2	0|0	PLB1|PLB1	28690427|28690427	0.028000|0.028000	0.19301|0.19301	0.020000|0.020000	0.16555|0.16555	0.565000|0.565000	0.35776|0.35776	-0.210000|-0.210000	0.09345|0.09345	-0.181000|-0.181000	0.10619|0.10619	0.655000|0.655000	0.94253|0.94253	GGA|CGG	.		0.463	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			T	28836923	G	T	28836923	3	4	18	1	0	0	0	0	1	0	0	0	12063	1116	39	2	3362	2	PLB1	2	28836923	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	1579873	28836923	214362450	24	3510											
ASPRV1	151516	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	70188127	70188127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgcagggtgtccagatCgccatcagtgacctcctccc	12	15	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:70188127C>T	ENST00000320256.4	-	1	1270	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.D232N(2)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GTGTCCAGATCGCCATCAGTG	0.567																																					p.D232N		.											.	ASPRV1-69	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G694A						.						87	83	84					2																	70188127		2203	4300	6503	SO:0001583	missense	151516	exon1			CCAGATCGCCATC	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.694G>A	2.37:g.70188127C>T	ENSP00000315383:p.Asp232Asn	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	256	32	NM_152792	0	0	0	1	1		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455312	0.43634	.	.	ENSG00000244617	ENST00000320256	T	0.44881	0.91	5.17	5.17	0.71159	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.256890	0.25472	N	0.030430	T	0.41419	0.1158	N	0.08118	0	0.19300	N	0.999971	D	0.64830	0.994	P	0.61940	0.896	T	0.38929	-0.9638	10	0.62326	D	0.03	-13.3014	14.0399	0.64669	0.0:1.0:0.0:0.0	.	232	Q53RT3	APRV1_HUMAN	N	232	ENSP00000315383:D232N	ENSP00000315383:D232N	D	-	1	0	ASPRV1	70041631	0.573000	0.26676	0.082000	0.20525	0.316000	0.28119	3.856000	0.55964	2.676000	0.91093	0.655000	0.94253	GAT	.		0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		T	70188127	C	T	70188127	3	4	18	1	0	0	0	0	1	0	0	0	1059	884	31	1	341	1	ASPRV1	2	70188127	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	41351204	70188127	173011246	25	3511											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	84848429	84848429	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctgccatcgctgacTatcaggggaaactgaggaca	12	10	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:84848429T>A	ENST00000237449.6	+	24	3915	c.3907T>A	c.(3907-3909)Tat>Aat	p.Y1303N	DNAH6_ENST00000398278.2_Missense_Mutation_p.Y1303N|DNAH6_ENST00000389394.3_Missense_Mutation_p.Y1303N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1303	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						CATCGCTGACTATCAGGGGAA	0.502																																					p.Y1303N		.											.	DNAH6-69	0			c.T3907A						.						61	55	57					2																	84848429		692	1591	2283	SO:0001583	missense	1768	exon25			GCTGACTATCAGG	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.3907T>A	2.37:g.84848429T>A	ENSP00000237449:p.Tyr1303Asn	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	261	17	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431092	0.83776	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.64085	-0.08;-0.08;-0.08	5.02	5.02	0.67125	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.84520	0.5490	H	0.95294	3.65	0.46981	D	0.999273	D	0.89917	1.0	D	0.87578	0.998	D	0.89077	0.3473	9	0.87932	D	0	.	13.7203	0.62723	0.0:0.0:0.0:1.0	.	1303	Q9C0G6	DYH6_HUMAN	N	1303	ENSP00000374045:Y1303N;ENSP00000381326:Y1303N;ENSP00000237449:Y1303N	ENSP00000237449:Y1303N	Y	+	1	0	DNAH6	84701940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.668000	0.74457	1.884000	0.54569	0.460000	0.39030	TAT	.		0.502	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84848429	T	A	84848429	3	1	18	1	0	0	0	0	1	0	0	0	4619	1522	53	5	4001	5	DNAH6	2	84848429	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	14660302	84848429	158350944	26	3512											
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	116447467	116447467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactccgtcttgcagtaCgcggcctggggtgtccaagg	16	11	1	0	rs151071213	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:116447467C>T	ENST00000410059.1	+	7	1026	c.546C>T	c.(544-546)taC>taT	p.Y182Y	DPP10_ENST00000409163.1_Silent_p.Y132Y|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.Y175Y|DPP10_ENST00000393147.2_Silent_p.Y186Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	182						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTTGCAGTACGCGGCCTGGG	0.443													C|||	2	0.000399361	0.0015	0	5008	,	,		13709	0		0	False		,,,				2504	0				p.Y186Y		.											.	DPP10-142	0			c.C558T						.	C	,,,,	7,4399	11.4+/-27.6	0,7,2196	79	87	84		525,558,396,534,546	-2.9	1	2	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,,,,	175/790,186/801,132/747,178/793,182/797	116447467	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	57628	exon7			GCAGTACGCGGCC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.546C>T	2.37:g.116447467C>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	71	15	NM_001178034	0	0	12	20	8	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																			C|0.999;T|0.001		0.443	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		T	116447467	C	T	116447467	2	4	18	1	0	0	0	0	0	0	0	1	4741	547	19	1		1	DPP10	2	116447467	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	31599038	116447467	126751906	27	3513											
LCT	3938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	136590717	136590717	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgggtggttctagcaggagCtccgggatatcttcagctcg	14	9	3	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:136590717C>G	ENST00000264162.2	-	2	694	c.684G>C	c.(682-684)gaG>gaC	p.E228D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	228	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E228D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTAGCAGGAGCTCCGGGATAT	0.488																																					p.E228D		.											.	LCT-101	1	Substitution - Missense(1)	lung(1)	c.G684C						.						148	160	156					2																	136590717		2203	4300	6503	SO:0001583	missense	3938	exon2			CAGGAGCTCCGGG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.684G>C	2.37:g.136590717C>G	ENSP00000264162:p.Glu228Asp	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	46	7	NM_002299	0	0	0	0	0	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236159	0.22626	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.57	2.79	0.32731	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.535983	0.20353	N	0.094010	T	0.23451	0.0567	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18116	-1.0347	10	0.52906	T	0.07	-14.2521	8.4163	0.32672	0.0:0.7517:0.0:0.2483	.	228	P09848	LPH_HUMAN	D	228	ENSP00000264162:E228D	ENSP00000264162:E228D	E	-	3	2	LCT	136307187	0.016000	0.18221	0.197000	0.23402	0.056000	0.15407	0.598000	0.24074	0.842000	0.35045	0.455000	0.32223	GAG	.		0.488	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		G	136590717	C	G	136590717	3	3	18	1	0	0	0	0	1	0	0	0	8721	796	28	3	5163	3	LCT	2	136590717	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	20143250	136590717	106608656	28	3514											
CDCA7	83879	broad.mit.edu	37	chr2	174229648	174229648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttgacgctctacccatGgaggaggaggaggaagagga	15	9	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:174229648G>A	ENST00000347703.3	+	5	732	c.588G>A	c.(586-588)atG>atA	p.M196I	CDCA7_ENST00000410019.3_Missense_Mutation_p.M154I|CDCA7_ENST00000392567.2_Missense_Mutation_p.M196I|CDCA7_ENST00000306721.3_Missense_Mutation_p.M275I|CDCA7_ENST00000410101.3_Missense_Mutation_p.M231I	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	196					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)			CTCTACCCATGGAGGAGGAGG	0.537																																					p.M275I		.											.	CDCA7-91	0			c.G825A						.						63	55	58					2																	174229648		2203	4300	6503	SO:0001583	missense	83879	exon6			ACCCATGGAGGAG	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.588G>A	2.37:g.174229648G>A	ENSP00000272789:p.Met196Ile	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	71	3	NM_031942	0	0	1	1	0	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	5.858	0.342474	0.11069	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.40756	1.05;1.02;1.04;1.04;1.05	5.65	-11.3	0.00108	.	0.386929	0.29692	N	0.011459	T	0.11324	0.0276	N	0.03608	-0.345	0.09310	N	0.999998	B;B;B;B	0.15473	0.013;0.005;0.005;0.009	B;B;B;B	0.13407	0.004;0.004;0.006;0.009	T	0.06552	-1.0820	10	0.30078	T	0.28	1.3947	5.1577	0.15044	0.605:0.0732:0.1393:0.1824	.	154;231;196;275	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	I	196;196;275;231;154	ENSP00000272789:M196I;ENSP00000376348:M196I;ENSP00000306968:M275I;ENSP00000386656:M231I;ENSP00000386833:M154I	ENSP00000306968:M275I	M	+	3	0	CDCA7	173937894	0.991000	0.36638	0.002000	0.10522	0.223000	0.24884	-0.053000	0.11846	-3.306000	0.00191	0.563000	0.77884	ATG	.		0.537	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174229648	G	A	174229648	3	1	18	1	0	0	0	0	1	0	0	0	3097	1348	47	3	847	3	CDCA7	2	174229648	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	37638931	174229648	68969725	29	3515											
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu	37	chr2	225717140	225717141	+	Frame_Shift_Del	DEL	CA	CA	-													ctgaatttttgaattcaatgCacacagttatattccgtgcc							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr2:225717140_225717141delCA	ENST00000258390.7	-	18	2162_2163	c.2095_2096delTG	c.(2095-2097)tgcfs	p.C699fs	DOCK10_ENST00000409592.3_Frame_Shift_Del_p.C693fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	699	DHR-1.				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)		GAATTCAATGCACACAGTTATA	0.406																																					p.699_699del		.											.	DOCK10-92	0			c.2095_2096del						.																																			SO:0001589	frameshift_variant	55619	exon18			TCAATGCACACAG	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.2095_2096delTG	2.37:g.225717144_225717145delCA	ENSP00000258390:p.Cys699fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	48	10	NM_014689	0	0	0	0	0	B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Del	DEL	ENST00000258390.7	37	CCDS46528.1																																																																																			.		0.406	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			-	225717141	CA	-	225717140	7	5	18	1	0	1	0	1	0	0	0	0	4699	710	25	0	4620	0	DOCK10	2	225717140	Frame_Shift_Del	DEL	CA	TCGA-OR-A5JP-01A-11D-A29I-10	51487492	225717140	17482233	30	3516											
CCR3	1232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	46306920	46306920	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcacccttccattctggAtccactatgtcagggggcat	9	13	3	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:46306920A>C	ENST00000357422.2	+	4	814	c.271A>C	c.(271-273)Atc>Ctc	p.I91L	CCR3_ENST00000541018.1_Missense_Mutation_p.I91L|CCR3_ENST00000545097.1_Missense_Mutation_p.I112L|CCR3_ENST00000395940.2_Missense_Mutation_p.I91L|CCR3_ENST00000395942.2_Missense_Mutation_p.I91L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	91					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCCATTCTGGATCCACTATGT	0.483																																					p.I112L		.											.	CCR3-660	0			c.A334C						.						180	168	172					3																	46306920		2203	4300	6503	SO:0001583	missense	1232	exon3			TTCTGGATCCACT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.271A>C	3.37:g.46306920A>C	ENSP00000350003:p.Ile91Leu	Somatic	336	0		WXS	Illumina GAIIx	Phase_I	287	109	NM_178328	0	0	0	0	0	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788756	0.49997	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.241604	0.30043	N	0.010542	T	0.38983	0.1061	L	0.51914	1.62	0.31691	N	0.641878	P;P	0.45569	0.861;0.73	P;P	0.49561	0.615;0.612	T	0.57154	-0.7860	10	0.72032	D	0.01	.	5.2642	0.15589	0.7167:0.1776:0.1056:0.0	.	112;91	F5GWL6;P51677	.;CCR3_HUMAN	L	91;112;91;91;91	ENSP00000350003:I91L;ENSP00000441600:I112L;ENSP00000440097:I91L;ENSP00000379271:I91L;ENSP00000379273:I91L	ENSP00000350003:I91L	I	+	1	0	CCR3	46281924	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	4.547000	0.60712	2.326000	0.78906	0.533000	0.62120	ATC	.		0.483	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			C	46306920	A	C	46306920	3	2	18	1	0	0	0	0	1	0	0	0	2949	333	12	5	340	5	CCR3	3	46306920	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		46306920	151715510	31	3517											
ALS2CL	259173	bcgsc.ca	37	chr3	46729757	46729757	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcaagagccgcaggcactCtctgccccagggatccgagg	13	14	1	1	rs7642448	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:46729757C>G	ENST00000318962.4	-	3	216	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E45Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	45			E -> Q (in dbSNP:rs7642448). {ECO:0000269|PubMed:17974005}.		endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCAGGCACTCTCTGCCCCAG	0.617													C|||	2246	0.448482	0.736	0.3991	5008	,	,		20682	0.3046		0.3161	False		,,,				2504	0.3793				p.E45Q		.											.	ALS2CL-155	0			c.G133C						.	C	GLN/GLU,GLN/GLU	2839,1567	657.0+/-400.2	921,997,285	36	37	37		133,133	4.4	0.6	3	dbSNP_116	37	2641,5959	418.8+/-352.9	400,1841,2059	yes	missense,missense	ALS2CL	NM_001190707.1,NM_147129.3	29,29	1321,2838,2344	GG,GC,CC		30.7093,35.5651,42.1344	possibly-damaging,possibly-damaging	45/954,45/954	46729757	5480,7526	2203	4300	6503	SO:0001583	missense	259173	exon3			GGCACTCTCTGCC	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.133G>C	3.37:g.46729757C>G	ENSP00000313670:p.Glu45Gln	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	85	5	NM_001190707	0	0	0	0	0	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	CCDS2743.1	875	0.40064102564102566	337	0.6849593495934959	146	0.40331491712707185	159	0.27797202797202797	233	0.3073878627968338	C	11.66	1.703594	0.30232	0.644349	0.307093	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.56275	0.47;0.47	4.36	4.36	0.52297	.	0.111814	0.39407	N	0.001379	T	0.00012	0.0000	L	0.34521	1.04	0.09310	P	0.9999999999980187	D	0.60575	0.988	P	0.52109	0.69	T	0.40739	-0.9547	9	0.39692	T	0.17	.	12.5671	0.56316	0.0:1.0:0.0:0.0	rs7642448;rs59127538;rs7642448	45	Q60I27	AL2CL_HUMAN	Q	45	ENSP00000313670:E45Q;ENSP00000413223:E45Q	ENSP00000313670:E45Q	E	-	1	0	ALS2CL	46704761	0.845000	0.29573	0.643000	0.29450	0.182000	0.23217	3.504000	0.53347	2.413000	0.81919	0.591000	0.81541	GAG	C|0.587;G|0.413		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		G	46729757	C	G	46729757	3	3	18	1	0	0	0	0	1	0	0	0	551	922	32	3	2824	3	ALS2CL	3	46729757	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	422837	46729757	151292673	32	3518											
SLC25A26	115286	bcgsc.ca	37	chr3	66419942	66419942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacccctctagacgtggcAaagacaagaattacgctggc	9	13	1	3	rs1129179	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:66419942A>G	ENST00000413054.1	+	6	419	c.345A>G	c.(343-345)gcA>gcG	p.A115A	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Silent_p.A115A|SLC25A26_ENST00000354883.6_Silent_p.A203A			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	203					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)		TAGACGTGGCAAAGACAAGAA	0.408													A|||	495	0.0988419	0.0363	0.1138	5008	,	,		22024	0.0873		0.1839	False		,,,				2504	0.0971				p.A203A		.											.	SLC25A26-46	0			c.A609G						.	A	,	291,4115	154.4+/-187.8	5,281,1917	92	83	86		345,609	-0.8	1	3	dbSNP_86	86	1641,6959	280.5+/-294.5	167,1307,2826	no	coding-synonymous,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	172,1588,4743	GG,GA,AA		19.0814,6.6046,14.8547	,	115/187,203/275	66419942	1932,11074	2203	4300	6503	SO:0001819	synonymous_variant	115286	exon9			CGTGGCAAAGACA	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.345A>G	3.37:g.66419942A>G		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	167	7	NM_173471	0	0	19	19	0	A8K758|B3KRZ7|Q7Z786|Q96E68	Silent	SNP	ENST00000413054.1	37		251	0.11492673992673992	16	0.032520325203252036	46	0.1270718232044199	45	0.07867132867132867	144	0.18997361477572558	A	7.990	0.753079	0.15778	0.066046	0.190814	ENSG00000144741	ENST00000413054	.	.	.	5.38	-0.784	0.10954	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	0.9999999999999998	.	.	.	.	.	.	T	0.23726	-1.0180	3	.	.	.	-14.2864	3.9139	0.09214	0.3837:0.3951:0.1241:0.0971	rs1129179;rs3186774;rs17415499;rs1129179	.	.	.	R	140	.	.	Q	+	2	0	SLC25A26	66502632	0.833000	0.29383	0.999000	0.59377	0.567000	0.35839	-0.003000	0.12901	0.005000	0.14708	-0.313000	0.08912	CAA	A|0.869;G|0.131;T|0.000		0.408	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		G	66419942	A	G	66419942	2	3	18	1	0	0	0	0	0	0	0	1	14534	117	5	4		4	SLC25A26	3	66419942	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	19690185	66419942	131602488	33	3519			1	12		2	2	15	N	C_A	8.049634e-05
SLC25A26	115286	bcgsc.ca	37	chr3	66419956	66419956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcaaagacaagaattaCgctggcaaaggtaagtggtg	14	6	0	2	rs13874	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:66419956C>T	ENST00000413054.1	+	6	433	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.T120M|SLC25A26_ENST00000354883.6_Missense_Mutation_p.T208M			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	208					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)		ACAAGAATTACGCTGGCAAAG	0.433													T|||	3405	0.679912	0.8396	0.621	5008	,	,		21912	0.7659		0.4761	False		,,,				2504	0.6268				p.T208M		.											.	SLC25A26-46	0			c.C623T						.	T	MET/THR,MET/THR	3442,964	352.1+/-311.5	1348,746,109	93	84	87		359,623	5.5	1	3	dbSNP_52	87	3801,4799	584.2+/-391.7	861,2079,1360	yes	missense,missense	SLC25A26	NM_001164796.1,NM_173471.3	81,81	2209,2825,1469	TT,TC,CC		44.1977,21.8793,44.3103	benign,benign	120/187,208/275	66419956	7243,5763	2203	4300	6503	SO:0001583	missense	115286	exon9			GAATTACGCTGGC	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.359C>T	3.37:g.66419956C>T	ENSP00000415304:p.Thr120Met	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	174	9	NM_173471	0	0	0	0	0	A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	ENST00000413054.1	37		1413|1413	0.646978021978022|0.646978021978022	405|405	0.823170731707317|0.823170731707317	226|226	0.6243093922651933|0.6243093922651933	421|421	0.736013986013986|0.736013986013986	361|361	0.4762532981530343|0.4762532981530343	T|T	0.369|0.369	-0.935221|-0.935221	0.02340|0.02340	0.781207|0.781207	0.441977|0.441977	ENSG00000144741|ENSG00000144741	ENST00000413054|ENST00000354883;ENST00000336733	.|T;T	.|0.78595	.|-1.19;-1.19	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Mitochondrial carrier domain (2);	.|0.077986	.|0.85682	.|N	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00007|0.00007	-3.15|-3.15	0.48087|0.48087	P|P	4.150000000000542E-4|4.150000000000542E-4	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.46400|0.46400	-0.9194|-0.9194	4|9	.|0.02654	.|T	.|1	-23.2708|-23.2708	11.4812|11.4812	0.50326|0.50326	0.0:0.0704:0.0:0.9296|0.0:0.0704:0.0:0.9296	rs13874;rs332380;rs1129181;rs1678130;rs3186777;rs11549728;rs11566372;rs17825759;rs59760960;rs13874|rs13874;rs332380;rs1129181;rs1678130;rs3186777;rs11549728;rs11566372;rs17825759;rs59760960;rs13874	.|208;208	.|F8WAB8;Q70HW3	.|.;SAMC_HUMAN	C|M	145|208;120	.|ENSP00000346955:T208M;ENSP00000336801:T120M	.|ENSP00000336801:T120M	R|T	+|+	1|2	0|0	SLC25A26|SLC25A26	66502646|66502646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.043000|0.043000	0.13939|0.13939	5.324000|5.324000	0.65863|0.65863	0.922000|0.922000	0.37019|0.37019	-0.254000|-0.254000	0.11334|0.11334	CGC|ACG	C|0.342;T|0.658		0.433	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	NM_173471		T	66419956	C	T	66419956	3	4	18	1	0	0	0	0	1	0	0	0	14534	536	19	1	455	1	SLC25A26	3	66419956	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	14	66419956	131602474	34	3520			1	12		2	2	15	N	C_A	8.049634e-05
STX19	415117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	93733581	93733581	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatcatttacatcttcttcaGacatctcttttccagcaact	2	12	5	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:93733581G>C	ENST00000315099.2	-	2	789	c.533C>G	c.(532-534)tCt>tGt	p.S178C	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	178					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATCTTCTTCAGACATCTCTTT	0.338																																					p.S178C		.											.	STX19-90	0			c.C533G						.						120	117	118					3																	93733581		2203	4300	6503	SO:0001583	missense	415117	exon2			TCTTCAGACATCT	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.533C>G	3.37:g.93733581G>C	ENSP00000320679:p.Ser178Cys	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	50	25	NM_001001850	0	0	0	0	0		Missense_Mutation	SNP	ENST00000315099.2	37	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340146	0.24339	.	.	ENSG00000178750	ENST00000315099	T	0.26518	1.73	4.76	3.87	0.44632	t-SNARE (1);	0.551366	0.19609	N	0.110193	T	0.31263	0.0791	M	0.74647	2.275	0.40666	D	0.982177	P	0.38167	0.621	B	0.36186	0.219	T	0.35151	-0.9800	10	0.72032	D	0.01	-19.1312	13.601	0.62020	0.077:0.0:0.923:0.0	.	178	Q8N4C7	STX19_HUMAN	C	178	ENSP00000320679:S178C	ENSP00000320679:S178C	S	-	2	0	STX19	95216271	0.986000	0.35501	0.326000	0.25389	0.334000	0.28698	6.299000	0.72770	1.318000	0.45170	0.650000	0.86243	TCT	.		0.338	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		C	93733581	G	C	93733581	3	2	18	1	0	0	0	0	1	0	0	0	15389	942	33	3	355	3	STX19	3	93733581	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	27313625	93733581	104288849	35	3521											
SEC22A	26984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	122990434	122990434	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttttgacttttggcttaatCtgtctatgcaacatgtatct	6	7	3	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:122990434C>G	ENST00000309934.4	+	6	1685	c.789C>G	c.(787-789)atC>atG	p.I263M	SEC22A_ENST00000492595.1_Missense_Mutation_p.I263M|SEC22A_ENST00000481965.2_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	263					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TTGGCTTAATCTGTCTATGCA	0.393																																					p.I263M		.											.	SEC22A-91	0			c.C789G						.						107	108	107					3																	122990434		2203	4300	6503	SO:0001583	missense	26984	exon7			CTTAATCTGTCTA	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.789C>G	3.37:g.122990434C>G	ENSP00000310521:p.Ile263Met	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	45	9	NM_012430	0	0	14	14	0	B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122551	0.56613	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000309934	T;T;T	0.24723	1.84;1.85;1.84	5.76	2.97	0.34412	.	0.100245	0.64402	D	0.000003	T	0.38532	0.1044	M	0.78801	2.425	0.46396	D	0.999024	P	0.46512	0.879	P	0.49276	0.605	T	0.31447	-0.9943	10	0.87932	D	0	-9.701	11.128	0.48330	0.1004:0.7308:0.0:0.1688	.	263	Q96IW7	SC22A_HUMAN	M	263	ENSP00000417972:I263M;ENSP00000420343:I263M;ENSP00000310521:I263M	ENSP00000310521:I263M	I	+	3	3	SEC22A	124473124	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.139000	0.31504	0.457000	0.26962	-0.824000	0.03097	ATC	.		0.393	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		G	122990434	C	G	122990434	3	3	18	1	0	0	0	0	1	0	0	0	14033	903	32	3	811	3	SEC22A	3	122990434	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	29256853	122990434	75031996	36	3522											
GHSR	2693	hgsc.bcm.edu	37	chr3	172166144	172166144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgggggaagcatcccaGtccaggtcggccagtgtgag	16	11	0	1	rs2232165	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:172166144G>A	ENST00000241256.2	-	1	102	c.60C>T	c.(58-60)gaC>gaT	p.D20D	GHSR_ENST00000427970.1_Silent_p.D20D	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	20					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAGCATCCCAGTCCAGGTCGG	0.687													G|||	174	0.0347444	0.0764	0.0259	5008	,	,		16047	0		0.0278	False		,,,				2504	0.0276				p.D20D	Esophageal Squamous(93;641 1401 20883 29581 34638)	.											.	GHSR-501	0			c.C60T						.	G	,	340,4066	171.9+/-202.1	10,320,1873	28	28	28		60,60	0.1	0	3	dbSNP_98	28	251,8349	96.6+/-158.3	5,241,4054	no	coding-synonymous,coding-synonymous	GHSR	NM_004122.2,NM_198407.2	,	15,561,5927	AA,AG,GG		2.9186,7.7167,4.5441	,	20/290,20/367	172166144	591,12415	2203	4300	6503	SO:0001819	synonymous_variant	2693	exon1			ATCCCAGTCCAGG	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.60C>T	3.37:g.172166144G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	12	NM_198407	0	0	0	0	0	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																			G|0.960;A|0.040		0.687	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		A	172166144	G	A	172166144	2	1	18	1	0	0	0	0	0	0	0	1	6401	1020	36	3		3	GHSR	3	172166144	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	49175710	172166144	25856286	37	3523											
HTR3D	200909	broad.mit.edu	37	chr3	183753777	183753777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaagccaccatgcccGgccttggcacaatcaatttg	9	13	1	2	rs36092077	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr3:183753777G>A	ENST00000382489.3	+	3	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Intron|HTR3D_ENST00000334128.2_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	90					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	caccatgcccggccTTGGCAC	0.537													g|||	1198	0.239217	0.1838	0.2579	5008	,	,		18463	0.4345		0.1819	False		,,,				2504	0.1585				p.R90Q		.											.	HTR3D-90	0			c.G269A						.		,GLN/ARG,	245,1139		19,207,466	29	27	28		,269,	-1.2	0	3	dbSNP_126	28	585,2597		64,457,1070	yes	intron,missense,intron	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	,43,	83,664,1536	AA,AG,GG		18.3847,17.7023,18.1778	,benign,	,90/455,	183753777	830,3736	692	1591	2283	SO:0001583	missense	200909	exon3			ATGCCCGGCCTTG	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.269G>A	3.37:g.183753777G>A	ENSP00000371929:p.Arg90Gln	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	93	3	NM_001163646	0	0	0	0	0	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	CCDS54685.1	516	0.23626373626373626	78	0.15853658536585366	66	0.18232044198895028	227	0.3968531468531469	145	0.19129287598944592	g	0.024	-1.388639	0.01185	0.177023	0.183847	ENSG00000186090	ENST00000382489	T	0.74842	-0.88	1.41	-1.24	0.09435	Neurotransmitter-gated ion-channel ligand-binding (3);	738.728000	0.00166	N	0.000002	T	0.00012	0.0000	N	0.04508	-0.205	0.51767	P	6.300000000003525E-5	B	0.13594	0.008	B	0.14023	0.01	T	0.13764	-1.0497	9	0.13108	T	0.6	.	3.949	0.09361	0.6575:0.0:0.3425:0.0	rs36092077	90	Q70Z44	5HT3D_HUMAN	Q	90	ENSP00000371929:R90Q	ENSP00000371929:R90Q	R	+	2	0	HTR3D	185236471	0.157000	0.22836	0.009000	0.14445	0.014000	0.08584	1.118000	0.31246	-0.277000	0.09193	-0.224000	0.12420	CGG	G|0.763;A|0.237		0.537	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		A	183753777	G	A	183753777	3	1	18	1	0	0	0	0	1	0	0	0	7474	1116	39	1	376	1	HTR3D	3	183753777	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	11587633	183753777	14268653	38	3524											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	55	6		WXS	Illumina GAIIx	Phase_I	272	74	NM_000203	0	0	1	3	2	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	18	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		996204	190158072	39	3525											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	110	10	NM_175918	0	0	15	41	26	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	18	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	392551	1388755	189765521	40	3526											
NSUN7	79730	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	40810424	40810426	+	In_Frame_Del	DEL	AGA	AGA	-													gggtaaatcatcaaaacgggAgaagaagaagaaaaaatcaa							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:40810424_40810426delAGA	ENST00000381782.2	+	12	2120_2122	c.1625_1627delAGA	c.(1624-1629)gagaag>gag	p.K547del	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	547							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCAAAACGGGAGAAGAAGAAGAA	0.438																																					p.542_543del		.											.	NSUN7-90	0			c.1625_1627del						.			1,16,4249		0,0,1,7,2,2123						5.1	1			85	4,22,8228		0,0,4,11,0,4112	no	codingComplex	NSUN7	NM_024677.4		0,0,5,18,2,6235	A1A1,A1A2,A1R,A2A2,A2R,RR		0.315,0.3985,0.3435				5,38,12477				SO:0001651	inframe_deletion	79730	exon12			AACGGGAGAAGAA	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1625_1627delAGA	4.37:g.40810433_40810435delAGA	ENSP00000371201:p.Lys547del	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	120	25	NM_024677	0	0	0	0	0	C9JI19|Q8N9K8|Q9H815	In_Frame_Del	DEL	ENST00000381782.2	37	CCDS3461.2																																																																																			.		0.438	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		-	40810426	AGA	-	40810424	7	5	18	1	0	1	0	1	0	0	0	0	10722	304	11	0	1667	0	NSUN7	4	40810424	In_Frame_Del	DEL	AGA	TCGA-OR-A5JP-01A-11D-A29I-10	39421669	40810424	150343852	41	3527											
EPHA5	2044	bcgsc.ca	37	chr4	66197804	66197804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctactgatctgtaggcCccagatcctagtgggctatg	10	12	2	2	rs7349683	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:66197804C>T	ENST00000273854.3	-	17	3495	c.2895G>A	c.(2893-2895)ggG>ggA	p.G965G	EPHA5_ENST00000511294.1_Silent_p.G966G|EPHA5_ENST00000432638.2_Silent_p.G802G|EPHA5_ENST00000354839.4_Silent_p.G943G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	965	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCTGTAGGCCCCAGATCCTA	0.368										TSP Lung(17;0.13)			C|||	1636	0.326677	0.0893	0.3098	5008	,	,		15856	0.4613		0.3748	False		,,,				2504	0.4714				p.G965G		.											.	EPHA5-1430	0			c.G2895A						.	C	,	607,3799	264.1+/-265.8	44,519,1640	75	69	71		2895,2829	3.7	1	4	dbSNP_116	71	3073,5527	471.0+/-368.0	550,1973,1777	no	coding-synonymous,coding-synonymous	EPHA5	NM_004439.5,NM_182472.2	,	594,2492,3417	TT,TC,CC		35.7326,13.7767,28.2946	,	965/1038,943/1016	66197804	3680,9326	2203	4300	6503	SO:0001819	synonymous_variant	2044	exon17			GTAGGCCCCAGAT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2895G>A	4.37:g.66197804C>T		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_004439	0	0	0	0	0	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																			C|0.704;T|0.296		0.368	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66197804	C	T	66197804	2	4	18	1	0	0	0	0	0	0	0	1	5186	610	22	3		3	EPHA5	4	66197804	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	25387380	66197804	124956472	42	3528											
ART3	419	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	77033649	77033649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatcagtgtttctgctAtaaatctctttgttgctctg	6	7	4	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:77033649A>G	ENST00000355810.4	+	12	1266	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	ART3_ENST00000341029.5_Missense_Mutation_p.I361V|ART3_ENST00000349321.3_Missense_Mutation_p.I372V	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	383					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTTCTGCTATAAATCTCTT	0.398																																					p.I383V		.											.	ART3-92	0			c.A1147G						.						254	222	233					4																	77033649		2203	4300	6503	SO:0001583	missense	419	exon12			TCTGCTATAAATC	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.1147A>G	4.37:g.77033649A>G	ENSP00000348064:p.Ile383Val	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	44	4	NM_001130016	0	0	0	0	0	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.846117	0.00067	.	.	ENSG00000156219	ENST00000341029;ENST00000355810;ENST00000349321	T;T;T	0.05580	3.43;3.47;3.42	5.43	-10.9	0.00192	.	6.223750	0.00166	N	0.000012	T	0.01940	0.0061	N	0.04203	-0.255	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.35574	-0.9783	10	0.02654	T	1	-16.5947	4.0577	0.09824	0.1134:0.3768:0.3591:0.1507	.	332;383;372;361	D6RBN3;Q13508;Q13508-3;Q13508-2	.;NAR3_HUMAN;.;.	V	361;383;372	ENSP00000343843:I361V;ENSP00000348064:I383V;ENSP00000304313:I372V	ENSP00000343843:I361V	I	+	1	0	ART3	77252673	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-3.230000	0.00548	-2.992000	0.00279	-1.542000	0.00909	ATA	.		0.398	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		G	77033649	A	G	77033649	3	3	18	1	0	0	0	0	1	0	0	0	999	449	16	4	1189	4	ART3	4	77033649	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	10835845	77033649	114120627	43	3529											
COQ2	27235	bcgsc.ca	37	chr4	84191031	84191031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgggcataaatagtAtcatatattagtgtccacat	7	7	1	1	rs6535454	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:84191031A>G	ENST00000311469.4	-	5	893	c.894T>C	c.(892-894)gaT>gaC	p.D298D	COQ2_ENST00000439031.2_Silent_p.D261D|COQ2_ENST00000311461.7_Silent_p.D248D	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	248					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CATAAATAGTATCATATATTA	0.358													A|||	3897	0.778155	0.8283	0.6801	5008	,	,		17970	0.871		0.7435	False		,,,				2504	0.7198				p.D298D		.											.	COQ2-92	0			c.T894C						.	A		2965,677		1212,541,68	59	53	55		894	-0.3	1	4	dbSNP_116	55	5749,2435		2031,1687,374	no	coding-synonymous	COQ2	NM_015697.7		3243,2228,442	GG,GA,AA		29.7532,18.5887,26.3149		298/422	84191031	8714,3112	1821	4092	5913	SO:0001819	synonymous_variant	27235	exon5			AATAGTATCATAT		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.894T>C	4.37:g.84191031A>G		Somatic	145	1		WXS	Illumina GAIIx	Phase_I	115	7	NM_015697	0	0	32	32	0	O95331|Q1JQ78|Q684R2	Silent	SNP	ENST00000311469.4	37	CCDS47090.2																																																																																			A|0.215;G|0.785		0.358	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		G	84191031	A	G	84191031	2	3	18	1	0	0	0	0	0	0	0	1	3752	446	16	4		4	COQ2	4	84191031	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	7157382	84191031	106963245	44	3530											
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	111409785	111409785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaggcaacttatacaAtatctatcacccatcccaaa	2	12	2	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:111409785A>G	ENST00000265162.5	+	2	1075	c.733A>G	c.(733-735)Ata>Gta	p.I245V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	245					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AACTTATACAATATCTATCAC	0.388																																					p.I245V		.											.	ENPEP-157	0			c.A733G						.						105	101	102					4																	111409785		2203	4300	6503	SO:0001583	missense	2028	exon2			TATACAATATCTA	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.733A>G	4.37:g.111409785A>G	ENSP00000265162:p.Ile245Val	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	74	15	NM_001977	0	0	5	5	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627466	0.66901	.	.	ENSG00000138792	ENST00000265162	T	0.04049	3.72	4.9	3.71	0.42584	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.044023	0.85682	D	0.000000	T	0.14141	0.0342	L	0.56769	1.78	0.58432	D	0.999998	D	0.67145	0.996	D	0.67900	0.954	T	0.01169	-1.1430	10	0.35671	T	0.21	.	10.4264	0.44380	0.9223:0.0:0.0777:0.0	.	245	Q07075	AMPE_HUMAN	V	245	ENSP00000265162:I245V	ENSP00000265162:I245V	I	+	1	0	ENPEP	111629234	1.000000	0.71417	0.041000	0.18516	0.970000	0.65996	6.001000	0.70685	0.725000	0.32318	0.460000	0.39030	ATA	.		0.388	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			G	111409785	A	G	111409785	3	3	18	1	0	0	0	0	1	0	0	0	5144	101	4	4	739	4	ENPEP	4	111409785	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	27218754	111409785	79744491	45	3531											
TDO2	6999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	156830150	156830150	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggagacgatgacagccttgGacttcaatgacttcaggtgt	12	8	2	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr4:156830150G>C	ENST00000536354.2	+	5	479	c.415G>C	c.(415-417)Gac>Cac	p.D139H		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)		GACAGCCTTGGACTTCAATGA	0.428																																					p.D139H	Colon(57;928 1036 2595 6946 26094)	.											.	TDO2-514	0			c.G415C						.						87	76	80					4																	156830150		2203	4300	6503	SO:0001583	missense	6999	exon5			GCCTTGGACTTCA		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.415G>C	4.37:g.156830150G>C	ENSP00000444788:p.Asp139His	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	58	23	NM_005651	0	0	0	1	1		Missense_Mutation	SNP	ENST00000536354.2	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461081	0.84317	.	.	ENSG00000151790	ENST00000506072;ENST00000507590;ENST00000536354	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	M	0.89163	3.01	0.80722	D	1	P	0.47604	0.898	P	0.59221	0.854	D	0.86181	0.1606	9	0.87932	D	0	-34.3508	19.9103	0.97024	0.0:0.0:1.0:0.0	.	139	P48775	T23O_HUMAN	H	32;32;139	.	ENSP00000281525:D139H	D	+	1	0	TDO2	157049600	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.384000	0.97219	2.765000	0.95021	0.650000	0.86243	GAC	.		0.428	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		C	156830150	G	C	156830150	3	2	18	1	0	0	0	0	1	0	0	0	15774	1174	41	3	433	3	TDO2	4	156830150	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	45420365	156830150	34324126	46	3532											
IRX4	50805	hgsc.bcm.edu	37	chr5	1882129	1882129	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgccagcgtgcggccTccggactcgcagcacgtgct	14	16	0	0	rs2232374	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:1882129T>G	ENST00000505790.1	-	3	546	c.90A>C	c.(88-90)ggA>ggC	p.G30G	CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Silent_p.G30G|IRX4_ENST00000513692.1_Silent_p.G30G	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	30					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCGTGCGGCCTCCGGACTCGC	0.741													N|||	1389	0.277356	0.2821	0.3141	5008	,	,		10764	0.3313		0.2177	False		,,,				2504	0.2505				p.G30G		.											.	IRX4-226	0			c.A90C						.			440,2456		29,382,1037	2	2	2		90	-2.3	0	5	dbSNP_98	2	967,5425		81,805,2310	no	coding-synonymous	IRX4	NM_016358.2		110,1187,3347	GG,GT,TT		15.1283,15.1934,15.1486		30/520	1882129	1407,7881	1448	3196	4644	SO:0001819	synonymous_variant	50805	exon2			GCGGCCTCCGGAC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.90A>C	5.37:g.1882129T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	CCDS3867.1																																																																																			T|0.735;G|0.265		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		G	1882129	T	G	1882129	2	3	18	1	0	0	0	0	0	0	0	1	7873	1538	54	5		5	IRX4	5	1882129	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		1882129	179033131	47	3533											
HEATR7B2	133558	bcgsc.ca	37	chr5	41061715	41061715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttctccattatatacCagaacagcatgaagatcttg	5	12	2	3	rs1023840|rs386687544	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:41061715C>T	ENST00000399564.4	-	6	1022	c.572G>A	c.(571-573)tGg>tAg	p.W191*		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	191			W -> R (in dbSNP:rs865093). {ECO:0000269|PubMed:15489334}.														CATTATATACCAGAACAGCAT	0.488													C|||	1043	0.208267	0.025	0.3329	5008	,	,		17005	0.2996		0.1819	False		,,,				2504	0.3006				p.W191X		.											.	.	0			c.G572A						.	C	stop/TRP	210,3656		2,206,1725	175	168	170		572	2.9	1	5	dbSNP_86	170	1643,6603		176,1291,2656	yes	stop-gained	HEATR7B2	NM_173489.4		178,1497,4381	TT,TC,CC		19.9248,5.432,15.2989		191/1586	41061715	1853,10259	1933	4123	6056	SO:0001587	stop_gained	133558	exon6			ATATACCAGAACA		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.572G>A	5.37:g.41061715C>T	ENSP00000382476:p.Trp191*	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	102	5	NM_173489	0	0	0	0	0	Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	337	0.1543040293040293	10	0.02032520325203252	97	0.26795580110497236	142	0.24825174825174826	88	0.11609498680738786	C	40	8.282932	0.98742	0.05432	0.199248	ENSG00000171495	ENST00000399564	.	.	.	5.81	2.91	0.33838	.	0.249672	0.28257	N	0.016016	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.9332	0.24453	0.0:0.6857:0.0:0.3143	rs1023840;rs60925153;rs1023840	.	.	.	X	191	.	ENSP00000382476:W191X	W	-	2	0	HEATR7B2	41097472	0.586000	0.26782	0.992000	0.48379	0.991000	0.79684	-0.147000	0.10234	0.299000	0.22661	0.655000	0.94253	TGG	C|0.822;T|0.178		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41061715	C	T	41061715	4	4	18	1	0	0	0	0	0	1	0	0	7062	595	21	3	4333	3	HEATR7B2	5	41061715	Nonsense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	39179586	41061715	139853545	48	3534											
PDE4D	5144	ucsc.edu	37	chr5	58284356	58284356	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgattggacacaccaggatGatctacatcatgtattgcac	8	9	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:58284356G>T	ENST00000340635.6	-	11	1691	c.1516C>A	c.(1516-1518)Cat>Aat	p.H506N	PDE4D_ENST00000317118.8_Missense_Mutation_p.H215N|PDE4D_ENST00000546160.1_Missense_Mutation_p.H445N|PDE4D_ENST00000360047.5_Missense_Mutation_p.H370N|PDE4D_ENST00000503258.1_Missense_Mutation_p.H376N|PDE4D_ENST00000502484.2_Missense_Mutation_p.H445N|PDE4D_ENST00000507116.1_Missense_Mutation_p.H442N|PDE4D_ENST00000358923.6_Missense_Mutation_p.H204N|PDE4D_ENST00000405755.2_Missense_Mutation_p.H384N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	506					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACACCAGGATGATCTACATCA	0.328																																					p.H506N		.											.	PDE4D-226	0			c.C1516A						.						45	42	43					5																	58284356		1812	4035	5847	SO:0001583	missense	5144	exon11			CAGGATGATCTAC		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1516C>A	5.37:g.58284356G>T	ENSP00000345502:p.His506Asn	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_001104631	0	0	0	0	0	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468362	0.84533	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	4.64	4.64	0.57946	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	H	0.99590	4.645	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.976;0.981;0.976;1.0;1.0;0.976;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.973;0.989;0.973;1.0;1.0;0.973;0.998;0.998	D	0.99133	1.0853	10	0.87932	D	0	.	18.0553	0.89362	0.0:0.0:1.0:0.0	.	445;506;442;369;384;376;281;215	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	N	506;375;370;442;204;215;376;384;445;445;204	ENSP00000345502:H506N;ENSP00000353152:H370N;ENSP00000424852:H442N;ENSP00000351800:H204N;ENSP00000321739:H215N;ENSP00000425605:H376N;ENSP00000384806:H384N;ENSP00000423094:H445N;ENSP00000442734:H445N;ENSP00000421013:H204N	ENSP00000321739:H215N	H	-	1	0	PDE4D	58320113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.567000	0.86603	0.563000	0.77884	CAT	.		0.328	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			T	58284356	G	T	58284356	3	4	18	1	0	0	0	0	1	0	0	0	11681	1290	45	3	933	3	PDE4D	5	58284356	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	17222641	58284356	122630904	49	3535											
PDLIM4	8572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	131607853	131607853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagagccacgccaaggcGcgcgtgaagccgcccgaggg	17	13	0	2	rs1140552		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:131607853G>A	ENST00000253754.3	+	7	988	c.924G>A	c.(922-924)gcG>gcA	p.A308A	PDLIM4_ENST00000379018.3_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	308	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACGCCAAGGCGCGCGTGAAGC	0.617																																					p.A308A		.											.	PDLIM4-91	0			c.G924A						.	G	,	1,4405	2.1+/-5.4	0,1,2202	74	66	69		,924	-5.5	0.6	5	dbSNP_86	69	0,8600		0,0,4300	no	utr-3,coding-synonymous	PDLIM4	NM_001131027.1,NM_003687.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,308/331	131607853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8572	exon7			CAAGGCGCGCGTG	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.924G>A	5.37:g.131607853G>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	206	55	NM_003687	0	0	0	0	0	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	CCDS4152.1																																																																																			G|1.000;A|0.000		0.617	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		A	131607853	G	A	131607853	2	1	18	1	0	0	0	0	0	0	0	1	11721	1074	38	1		1	PDLIM4	5	131607853	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	73323497	131607853	49307407	50	3536											
RAD50	10111	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	131940646	131940647	+	Frame_Shift_Del	DEL	TG	TG	-													cagcaactggaggagcagacTgtggaattatccactgaagt							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:131940646_131940647delTG	ENST00000265335.6	+	16	3060_3061	c.2673_2674delTG	c.(2671-2676)actgtgfs	p.V892fs	RAD50_ENST00000378823.3_Frame_Shift_Del_p.V753fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	892					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)			AGGAGCAGACTGTGGAATTATC	0.307								Homologous recombination																													p.891_892del		.											.	RAD50-229	0			c.2673_2674del						.																																			SO:0001589	frameshift_variant	10111	exon16			GCAGACTGTGGAA	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.2673_2674delTG	5.37:g.131940648_131940649delTG	ENSP00000265335:p.Val892fs	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	169	41	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Del	DEL	ENST00000265335.6	37	CCDS34233.1																																																																																			.		0.307	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		-	131940647	TG	-	131940646	7	5	18	1	0	1	0	1	0	0	0	0	13029	1567	55	0	2735	0	RAD50	5	131940646	Frame_Shift_Del	DEL	TG	TCGA-OR-A5JP-01A-11D-A29I-10	332793	131940646	48974614	51	3537											
PCDHB4	56131	ucsc.edu	37	chr5	140503237	140503237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacAccaacgacaactcgcccttc	11	15	0	0	rs246669	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:140503237A>G	ENST00000194152.1	+	1	1657	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		T -> A (in dbSNP:rs246669).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACACCAACGACAA	0.701													G|||	1006	0.200879	0.1581	0.2305	5008	,	,		16296	0.1964		0.2276	False		,,,				2504	0.2147				p.T553A		.											.	PCDHB4-93	0			c.A1657G						.						39	43	42					5																	140503237		2197	4288	6485	SO:0001583	missense	56131	exon1			CTGGACACCAACG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1657A>G	5.37:g.140503237A>G	ENSP00000194152:p.Thr553Ala	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	232	131	NM_018938	0	0	4	118	114	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	369	0.16895604395604397	72	0.14634146341463414	72	0.19889502762430938	92	0.16083916083916083	133	0.17546174142480211	G	8.414	0.844735	0.16963	.	.	ENSG00000081818	ENST00000194152	T	0.01113	5.32	3.77	1.95	0.26073	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.03084	-0.415	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	8	0.07813	T	0.8	.	5.5672	0.17177	0.2653:0.1467:0.588:0.0	rs246669;rs17844415	553	Q9Y5E5	PCDB4_HUMAN	A	553	ENSP00000194152:T553A	ENSP00000194152:T553A	T	+	1	0	PCDHB4	140483421	0.000000	0.05858	0.965000	0.40720	0.981000	0.71138	-0.068000	0.11561	0.404000	0.25506	-0.330000	0.08379	ACC	G|1.000;|0.000		0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		G	140503237	A	G	140503237	3	3	18	1	0	0	0	0	1	0	0	0	11583	159	6	4	1659	4	PCDHB4	5	140503237	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	8562591	140503237	40412023	52	3538											
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145631438	145631438	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccctacccctctggttccaGgtaagctttgctacagatgg	10	13	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr5:145631438G>C	ENST00000265271.5	+	9	1610	c.1444G>C	c.(1444-1446)Gat>Cat	p.D482H	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	482					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)			TCTGGTTCCAGGTAAGCTTTG	0.532																																					p.D482H		.											.	RBM27-70	0			c.G1444C						.						228	210	216					5																	145631438		1568	3582	5150	SO:0001630	splice_region_variant	54439	exon9			GTTCCAGGTAAGC	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.1444+1G>C	5.37:g.145631438G>C		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	98	28	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788676	0.49997	.	.	ENSG00000091009	ENST00000265271	T	0.51071	0.72	4.99	4.99	0.66335	.	0.351787	0.26300	N	0.025162	T	0.34803	0.0910	N	0.20986	0.625	0.39847	D	0.973182	B	0.02656	0.0	B	0.01281	0.0	T	0.15752	-1.0426	10	0.44086	T	0.13	-8.3295	13.6641	0.62384	0.0:0.0:1.0:0.0	.	482	Q9P2N5	RBM27_HUMAN	H	482	ENSP00000265271:D482H	ENSP00000265271:D482H	D	+	1	0	RBM27	145611631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	2.597000	0.87782	0.655000	0.94253	GAT	.		0.532	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	Missense_Mutation	C	145631438	G	C	145631438	5	2	18	1	0	0	0	0	0	0	1	0	13172	1014	35	3	1478	3	RBM27	5	145631438	Splice_Site	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	5128201	145631438	35283822	53	3539											
F13A1	2162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	6175004	6175004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcaaagtccatgtcaAcgttggaccttgatttcatg	7	11	3	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:6175004A>G	ENST00000264870.3	-	12	1821	c.1556T>C	c.(1555-1557)gTt>gCt	p.V519A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	519					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)	GTCCATGTCAACGTTGGACCT	0.483																																					p.V519A		.											.	F13A1-519	0			c.T1556C						.						195	161	172					6																	6175004		2203	4300	6503	SO:0001583	missense	2162	exon12			ATGTCAACGTTGG	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.1556T>C	6.37:g.6175004A>G	ENSP00000264870:p.Val519Ala	Somatic	271	0		WXS	Illumina GAIIx	Phase_I	309	83	NM_000129	0	0	0	0	0	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183259	0.38511	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.81579	-1.51	5.78	4.64	0.57946	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.200613	0.44097	D	0.000495	T	0.80722	0.4677	M	0.78049	2.395	0.18873	N	0.999989	P;P	0.50710	0.894;0.938	B;P	0.56823	0.438;0.807	T	0.74904	-0.3505	10	0.72032	D	0.01	.	7.8686	0.29552	0.8478:0.0:0.1522:0.0	.	456;519	F5H080;P00488	.;F13A_HUMAN	A	519;456	ENSP00000264870:V519A	ENSP00000264870:V519A	V	-	2	0	F13A1	6120003	0.209000	0.23505	0.080000	0.20451	0.188000	0.23474	3.911000	0.56378	2.202000	0.70862	0.523000	0.50628	GTT	.		0.483	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		G	6175004	A	G	6175004	3	3	18	1	0	0	0	0	1	0	0	0	5356	43	2	4	658	4	F13A1	6	6175004	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		6175004	164940063	54	3540											
TMEM14B	81853	ucsc.edu	37	chr6	10756728	10756728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccgccaaagttggagttCgtatgttgatgacatctgat	12	7	1	3	rs72821581	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:10756728C>T	ENST00000379542.5	+	6	489	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	TMEM14B_ENST00000467317.1_Intron|TMEM14B_ENST00000379530.3_Missense_Mutation_p.R74C|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Missense_Mutation_p.S48L|TMEM14B_ENST00000491103.1_3'UTR	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	108						integral component of membrane (GO:0016021)		p.R108C(4)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				AGTTGGAGTTCGTATGTTGAT	0.358																																					p.R108C		.											.	TMEM14B-90	4	Substitution - Missense(4)	skin(2)|NS(1)|prostate(1)	c.C322T						.						162	139	147					6																	10756728		2203	4300	6503	SO:0001583	missense	81853	exon6			GGAGTTCGTATGT	AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.322C>T	6.37:g.10756728C>T	ENSP00000368858:p.Arg108Cys	Somatic	126	4		WXS	Illumina GAIIx	Phase_I	163	26	NM_030969	0	0	78	78	0	Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	ENST00000379542.5	37	CCDS4515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.745|5.745	0.321925|0.321925	0.10900|0.10900	.|.	.|.	ENSG00000137210|ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000379530|ENST00000473276	T;T|T	0.26660|0.56941	2.12;1.72|0.43	3.75|3.75	1.3|1.3	0.21679|0.21679	.|.	0.473115|.	0.27366|.	N|.	0.019688|.	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P;P|.	0.49635|.	0.926;0.917|.	B;B|.	0.42653|.	0.226;0.394|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|7	0.56958|0.87932	D|D	0.05|0	.|.	9.9351|9.9351	0.41545|0.41545	0.4256:0.5744:0.0:0.0|0.4256:0.5744:0.0:0.0	.|.	74;108|.	Q5THN7;Q9NUH8|.	.;TM14B_HUMAN|.	C|L	108;108;74|48	ENSP00000368858:R108C;ENSP00000368845:R74C|ENSP00000420580:S48L	ENSP00000368845:R74C|ENSP00000420580:S48L	R|S	+|+	1|2	0|0	TMEM14B|TMEM14B	10864714|10864714	0.007000|0.007000	0.16637|0.16637	0.210000|0.210000	0.23637|0.23637	0.087000|0.087000	0.18053|0.18053	1.323000|1.323000	0.33701|0.33701	0.291000|0.291000	0.22468|0.22468	-1.051000|-1.051000	0.02340|0.02340	CGT|TCG	C|0.960;T|0.040		0.358	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	NM_030969		T	10756728	C	T	10756728	3	4	18	1	0	0	0	0	1	0	0	0	16111	884	31	1	340	1	TMEM14B	6	10756728	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	4581724	10756728	160358339	55	3541											
HLA-A	3105	hgsc.bcm.edu	37	chr6	29910566	29910566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtatttcttcacatccGtgtcccggcccggccgcggg	13	14	2	1	rs41545116	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:29910566G>A	ENST00000396634.1	+	4	447	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	HLA-A_ENST00000376802.2_Missense_Mutation_p.V36M|HLA-A_ENST00000376809.5_Missense_Mutation_p.V36M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V36M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	36	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTTCACATCCGTGTCCCGGCC	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	111	0.0221645	0.0688	0.0216	5008	,	,		13876	0		0.005	False		,,,				2504	0				p.V36M		.											.	HLA-A-92	0			c.G106A						.						17	17	17					6																	29910566		2191	4278	6469	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	ACATCCGTGTCCC	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.106G>A	6.37:g.29910566G>A	ENSP00000379873:p.Val36Met	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	208	17	NM_001242758	1	0	1	2	0	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	4.406	0.075018	0.08485	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	3.48	-0.824	0.10812	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.226724	0.20772	U	0.085967	T	0.01320	0.0043	M	0.63843	1.955	0.09310	N	1	B;D;P;D;B	0.89917	0.177;1.0;0.572;1.0;0.269	B;D;B;D;B	0.91635	0.136;0.999;0.218;0.999;0.218	T	0.49818	-0.8899	10	0.52906	T	0.07	.	2.8157	0.05455	0.2394:0.0:0.36:0.4006	rs41545116;rs61739761	36;36;36;36;36	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	M	36	ENSP00000379873:V36M;ENSP00000366002:V36M;ENSP00000366005:V36M;ENSP00000365998:V36M	ENSP00000348012:V36M	V	+	1	0	HLA-A	30018545	0.000000	0.05858	0.249000	0.24280	0.102000	0.19082	-0.740000	0.04861	-0.043000	0.13513	-0.556000	0.04195	GTG	A|0.077;G|0.923		0.711	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		A	29910566	G	A	29910566	3	1	18	1	0	0	0	0	1	0	0	0	7222	1145	40	1	112	1	HLA-A	6	29910566	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	19153838	29910566	141204501	56	3542											
RNF39	80352	hgsc.bcm.edu	37	chr6	30039364	30039364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgaagcgcttggggcCgtcagggggcgcgggcgtcc	19	12	1	1	rs11753382	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:30039364C>A	ENST00000244360.6	-	4	884	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	RNF39_ENST00000376751.3_Missense_Mutation_p.G263C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	263	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGCTTGGGGCCGTCAGGGGGC	0.741													c|||	749	0.149561	0.2489	0.134	5008	,	,		10967	0.1528		0.0447	False		,,,				2504	0.1309				p.G263C	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.G787T						.		CYS/GLY,CYS/GLY	414,2026		21,372,827	3	2	2		787,787	0.5	0.1	6	dbSNP_120	2	229,4029		6,217,1906	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	159,159	27,589,2733	AA,AC,CC		5.3781,16.9672,9.5999	benign,benign	263/421,263/355	30039364	643,6055	1220	2129	3349	SO:0001583	missense	80352	exon4			TGGGGCCGTCAGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.787G>T	6.37:g.30039364C>A	ENSP00000244360:p.Gly263Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_025236	0	0	3	3	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	299	0.13690476190476192	120	0.24390243902439024	56	0.15469613259668508	90	0.15734265734265734	33	0.04353562005277045	c	11.55	1.672102	0.29693	0.169672	0.053781	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10382	2.88;2.88	4.7	0.543	0.17179	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.296117	0.23738	N	0.045041	T	0.03348	0.0097	N	0.19112	0.55	0.48696	P	3.009999999999957E-4	B;P	0.48407	0.06;0.91	B;P	0.47626	0.092;0.552	T	0.41305	-0.9516	9	0.56958	D	0.05	-19.3451	7.7639	0.28968	0.0:0.4441:0.0:0.5559	rs11753382	263;263	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	263	ENSP00000365942:G263C;ENSP00000244360:G263C	ENSP00000244360:G263C	G	-	1	0	RNF39	30147343	0.003000	0.15002	0.059000	0.19551	0.050000	0.14768	0.158000	0.16422	-0.104000	0.12154	0.466000	0.42574	GGC	C|0.862;A|0.138		0.741	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		A	30039364	C	A	30039364	3	1	18	1	0	0	0	0	1	0	0	0	13536	652	23	2	479	2	RNF39	6	30039364	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	128798	30039364	141075703	57	3543											
NOTCH4	4855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32166275	32166275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggctgcctgagggagcGccccacagccaccactcaga	12	16	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:32166275G>A	ENST00000375023.3	-	26	4817	c.4679C>T	c.(4678-4680)gCg>gTg	p.A1560V	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1560					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						CTGAGGGAGCGCCCCACAGCC	0.582																																					p.A1560V		.											.	NOTCH4-1321	0			c.C4679T						.						65	54	58					6																	32166275		1511	2709	4220	SO:0001583	missense	4855	exon26			GGGAGCGCCCCAC		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.4679C>T	6.37:g.32166275G>A	ENSP00000364163:p.Ala1560Val	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	79	27	NM_004557	0	0	2	2	0	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874616	0.33069	.	.	ENSG00000204301	ENST00000375023	D	0.81579	-1.51	5.16	-3.72	0.04411	.	0.882779	0.09507	N	0.792818	T	0.27524	0.0676	N	0.03608	-0.345	0.25148	N	0.990442	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13953	-1.0490	10	0.31617	T	0.26	.	1.1076	0.01698	0.1343:0.2449:0.2819:0.339	.	1560;1559	Q99466;B0S882	NOTC4_HUMAN;.	V	1560	ENSP00000364163:A1560V	ENSP00000364163:A1560V	A	-	2	0	NOTCH4	32274253	0.286000	0.24305	0.675000	0.29917	0.905000	0.53344	-0.472000	0.06623	-0.821000	0.04312	-0.364000	0.07487	GCG	.		0.582	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32166275	G	A	32166275	3	1	18	1	0	0	0	0	1	0	0	0	10590	1087	38	1	1352	1	NOTCH4	6	32166275	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	2126911	32166275	138948792	58	3544											
HLA-DRB1	3123	bcgsc.ca	37	chr6	32557461	32557461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggggagctcagcaccAtcagtgtcactgtcagcgct	12	13	4	0	rs35053532	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:32557461A>G	ENST00000360004.5	-	1	164	c.59T>C	c.(58-60)aTg>aCg	p.M20T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTCAGCACCATCAGTGTCAC	0.572										Multiple Myeloma(14;0.17)																											p.M20T		.											.	HLA-DRB1-1	0			c.T59C						.						83	99	93					6																	32557461		1511	2709	4220	SO:0001583	missense	3123	exon1			AGCACCATCAGTG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.59T>C	6.37:g.32557461A>G	ENSP00000353099:p.Met20Thr	Somatic	340	10		WXS	Illumina GAIIx	Phase_I	468	25	NM_002124	0	0	43	43	0	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	4.424	0.078455	0.08533	.	.	ENSG00000196126	ENST00000360004	T	0.00253	8.43	4.4	2.05	0.26809	MHC classes I/II-like antigen recognition protein (1);	1.753860	0.02864	N	0.130685	T	0.00073	0.0002	L	0.51422	1.61	0.09310	N	0.999999	B	0.20887	0.049	B	0.21360	0.034	T	0.43097	-0.9412	10	0.59425	D	0.04	.	5.3115	0.15833	0.7604:0.0:0.2396:0.0	rs35053532	20	P01911	2B1F_HUMAN	T	20	ENSP00000353099:M20T	ENSP00000353099:M20T	M	-	2	0	HLA-DRB1	32665439	0.226000	0.23696	0.380000	0.26093	0.101000	0.19017	1.241000	0.32743	0.270000	0.21984	0.379000	0.24179	ATG	A|0.986;G|0.013		0.572	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32557461	A	G	32557461	3	3	18	1	0	0	0	0	1	0	0	0	7235	217	8	4	765	4	HLA-DRB1	6	32557461	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	391186	32557461	138557606	59	3545											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_000287	0	0	1	5	4	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	18	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	10389029	42946490	128168577	60	3546											
FBXO9	26268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	52960318	52960318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttgcagaaaccacTtgactataaatacagatatt	4	7	1	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:52960318T>G	ENST00000244426.6	+	11	1263	c.1091T>G	c.(1090-1092)cTt>cGt	p.L364R	FBXO9_ENST00000370939.3_Missense_Mutation_p.L320R|FBXO9_ENST00000323557.7_Missense_Mutation_p.L354R	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	364					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAGAAACCACTTGACTATAAA	0.378																																					p.L364R		.											.	FBXO9-227	0			c.T1091G						.						63	59	60					6																	52960318		1835	4089	5924	SO:0001583	missense	26268	exon11			AACCACTTGACTA	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1091T>G	6.37:g.52960318T>G	ENSP00000244426:p.Leu364Arg	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	56	7	NM_012347	0	0	0	0	0	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.375|6.375	0.437380|0.437380	0.12104|0.12104	.|.	.|.	ENSG00000112146|ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426|ENST00000473318	T;T;T|.	0.76316|.	-1.0;-1.01;-1.01|.	5.13|5.13	3.94|3.94	0.45596|0.45596	F-box domain, Skp2-like (1);|.	0.492700|0.492700	0.23330|0.23330	N|N	0.049347|0.049347	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.02539|0.02539	-0.55|-0.55	0.29464|0.29464	N|N	0.857528|0.857528	B;B;B|.	0.26258|.	0.145;0.002;0.001|.	B;B;B|.	0.28232|.	0.087;0.003;0.002|.	T|T	0.41945|0.41945	-0.9480|-0.9480	10|7	0.15499|0.07644	T|T	0.54|0.81	-1.7951|-1.7951	7.6183|7.6183	0.28171|0.28171	0.1403:0.0:0.1469:0.7128|0.1403:0.0:0.1469:0.7128	.|.	354;471;364|.	Q9UK97-2;Q59EH8;Q9UK97|.	.;.;FBX9_HUMAN|.	R|V	320;354;364|113	ENSP00000359977:L320R;ENSP00000326968:L354R;ENSP00000244426:L364R|.	ENSP00000244426:L364R|ENSP00000417349:L113V	L|L	+|+	2|1	0|2	FBXO9|FBXO9	53068277|53068277	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	3.434000|3.434000	0.52841|0.52841	0.870000|0.870000	0.35726|0.35726	-0.341000|-0.341000	0.08007|0.08007	CTT|TTG	.		0.378	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			G	52960318	T	G	52960318	3	3	18	1	0	0	0	0	1	0	0	0	5784	1609	56	5	1140	5	FBXO9	6	52960318	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	10013828	52960318	118154749	61	3547											
C6orf142	90523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	54095603	54095603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgctgcatccacagaCcctctcacatgctgactgtc	7	16	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:54095603C>T	ENST00000274897.5	+	11	1318	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.T937I|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	402						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CATCCACAGACCCTCTCACAT	0.517																																					p.T402I		.											.	MLIP-99	0			c.C1205T						.						304	269	281					6																	54095603		2203	4300	6503	SO:0001583	missense	90523	exon11			CACAGACCCTCTC	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1205C>T	6.37:g.54095603C>T	ENSP00000274897:p.Thr402Ile	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	133	31	NM_138569	0	0	4	7	3	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434851	0.62955	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.24350	2.21;1.86	5.59	2.38	0.29361	.	0.567127	0.15982	N	0.235278	T	0.18130	0.0435	N	0.19112	0.55	0.80722	D	1	D;P	0.55385	0.971;0.95	P;P	0.58454	0.839;0.735	T	0.04017	-1.0984	10	0.72032	D	0.01	.	12.1913	0.54273	0.4485:0.5515:0.0:0.0	.	937;402	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	I	402;937	ENSP00000274897:T402I;ENSP00000426290:T937I	ENSP00000274897:T402I	T	+	2	0	MLIP	54203562	0.350000	0.24878	0.998000	0.56505	0.976000	0.68499	0.596000	0.24044	0.658000	0.30925	0.650000	0.86243	ACC	.		0.517	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		T	54095603	C	T	54095603	3	4	18	1	0	0	0	0	1	0	0	0	2340	507	18	3	1247	3	C6orf142	6	54095603	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	1135285	54095603	117019464	62	3548											
FAM46A	55603	broad.mit.edu	37	chr6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-													gcccaccgaagctgccgccaCcgccgaagtcgccgccgccg					rs375746695	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	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-90	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	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	109	9	NM_017633	0	0	0	0	0	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	18	1	0	1	0	1	0	0	0	0	5587	507	18	0	1205	0	FAM46A	6	82461728	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	TCGA-OR-A5JP-01A-11D-A29I-10	28366125	82461728	88653339	63	3549											
IBTK	25998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	82921272	82921272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccactgatttcatggtcAcgtcacacagaaatgaactg	7	11	3	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:82921272A>C	ENST00000306270.7	-	14	2858	c.2309T>G	c.(2308-2310)gTg>gGg	p.V770G	RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000510291.1_Missense_Mutation_p.V770G|IBTK_ENST00000503631.1_Missense_Mutation_p.V569G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	770	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)		TTTCATGGTCACGTCACACAG	0.338																																					p.V770G		.											.	IBTK-92	0			c.T2309G						.						74	70	71					6																	82921272		2203	4300	6503	SO:0001583	missense	25998	exon14			ATGGTCACGTCAC	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.2309T>G	6.37:g.82921272A>C	ENSP00000305721:p.Val770Gly	Somatic	340	0		WXS	Illumina GAIIx	Phase_I	299	67	NM_015525	0	0	8	14	6	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354486	0.82243	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.78595	-1.19;-1.19;-1.19	5.74	5.74	0.90152	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	H	0.96805	3.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.992;1.0	D	0.93359	0.6725	10	0.54805	T	0.06	-11.3004	16.0294	0.80567	1.0:0.0:0.0:0.0	.	569;770;770;770	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	G	770;569;770	ENSP00000305721:V770G;ENSP00000422762:V569G;ENSP00000426405:V770G	ENSP00000305721:V770G	V	-	2	0	IBTK	82977991	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.932000	0.92897	2.190000	0.69967	0.477000	0.44152	GTG	.		0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		C	82921272	A	C	82921272	3	2	18	1	0	0	0	0	1	0	0	0	7503	159	6	5	1816	5	IBTK	6	82921272	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	459544	82921272	88193795	64	3550											
FAM184A	79632	hgsc.bcm.edu;bcgsc.ca	37	chr6	119337933	119337933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgcagttttttcttatcCctaattgcattactgtggac	6	8	1	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:119337933C>A	ENST00000338891.7	-	5	1952	c.1509G>T	c.(1507-1509)agG>agT	p.R503S	FAM184A_ENST00000352896.5_Missense_Mutation_p.R383S|FAM184A_ENST00000521531.1_Missense_Mutation_p.R503S|FAM184A_ENST00000368475.4_Missense_Mutation_p.R383S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R383S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	503						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						TTTTCTTATCCCTAATTGCAT	0.368																																					p.R503S		.											.	FAM184A-519	0			c.G1509T						.						110	101	104					6																	119337933		1827	4090	5917	SO:0001583	missense	79632	exon5			CTTATCCCTAATT	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.1509G>T	6.37:g.119337933C>A	ENSP00000342604:p.Arg503Ser	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_024581	0	0	2	2	0	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554976|2.554976	0.45487|0.45487	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000448815|ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.|T;T;T;T;T	.|0.00348	.|8.0;8.0;8.0;8.0;8.0	5.18|5.18	-0.445|-0.445	0.12242|0.12242	.|.	.|0.259165	.|0.42821	.|D	.|0.000660	T|T	0.00073|0.00073	0.0002|0.0002	L|L	0.40543|0.40543	1.245|1.245	0.29506|0.29506	N|N	0.854536|0.854536	.|B;B;B	.|0.15141	.|0.01;0.01;0.012	.|B;B;B	.|0.23852	.|0.033;0.017;0.049	T|T	0.20338|0.20338	-1.0278|-1.0278	5|10	.|0.34782	.|T	.|0.22	-1.214|-1.214	9.2185|9.2185	0.37362|0.37362	0.0:0.5591:0.0:0.4409|0.0:0.5591:0.0:0.4409	.|.	.|503;383;503	.|Q8NB25-2;F8W8D6;Q8NB25	.|.;.;F184A_HUMAN	V|S	89|503;383;383;503;383	.|ENSP00000342604:R503S;ENSP00000326608:R383S;ENSP00000357460:R383S;ENSP00000430442:R503S;ENSP00000429826:R383S	.|ENSP00000342604:R503S	G|R	-|-	2|3	0|2	FAM184A|FAM184A	119379632|119379632	0.676000|0.676000	0.27567|0.27567	0.245000|0.245000	0.24217|0.24217	0.985000|0.985000	0.73830|0.73830	0.731000|0.731000	0.26058|0.26058	0.099000|0.099000	0.17552|0.17552	0.491000|0.491000	0.48974|0.48974	GGG|AGG	.		0.368	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		A	119337933	C	A	119337933	3	1	18	1	0	0	0	0	1	0	0	0	5530	622	22	3	1969	3	FAM184A	6	119337933	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	36416661	119337933	51777134	65	3551											
SLC2A12	154091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	134373567	134373567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccctccgtctccacggctgTccccttctggttcagcagac	9	18	3	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr6:134373567T>A	ENST00000275230.5	-	1	207	c.52A>T	c.(52-54)Aca>Tca	p.T18S		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	18					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)		TCCACGGCTGTCCCCTTCTGG	0.632																																					p.T18S	Melanoma(122;1663 1672 14489 35294 41228)	.											.	SLC2A12-91	0			c.A52T						.						61	61	61					6																	134373567		2203	4300	6503	SO:0001583	missense	154091	exon1			CGGCTGTCCCCTT	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.52A>T	6.37:g.134373567T>A	ENSP00000275230:p.Thr18Ser	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	52	16	NM_145176	0	0	0	0	0	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	8.372	0.835471	0.16820	.	.	ENSG00000146411	ENST00000275230	T	0.78246	-1.16	5.35	2.95	0.34219	.	5.969580	0.00166	N	0.000007	T	0.33000	0.0848	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.09084	T	0.74	-0.0124	6.6159	0.22776	0.0:0.0811:0.1668:0.7522	.	18	Q8TD20	GTR12_HUMAN	S	18	ENSP00000275230:T18S	ENSP00000275230:T18S	T	-	1	0	SLC2A12	134415260	0.000000	0.05858	0.001000	0.08648	0.851000	0.48451	0.343000	0.19944	0.476000	0.27440	0.448000	0.29417	ACA	.		0.632	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			A	134373567	T	A	134373567	3	1	18	1	0	0	0	0	1	0	0	0	14586	1667	58	5	1821	5	SLC2A12	6	134373567	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	15035634	134373567	36741500	66	3552											
ZFAND2A	90637	bcgsc.ca	37	chr7	1195215	1195215	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcatactgggacgtgAacatcctaaaaataacaaag	10	7	0	1	rs1133116	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:1195215A>C	ENST00000316495.3	-	4	415	c.156T>G	c.(154-156)gtT>gtG	p.V52V	ZFAND2A_ENST00000401903.1_Silent_p.V52V	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	52					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)		CTGGGACGTGAACATCCTAAA	0.448													A|||	557	0.111222	0.0749	0.1816	5008	,	,		19995	0.0268		0.1481	False		,,,				2504	0.1595				p.V52V		.											.	ZFAND2A-69	0			c.T156G						.			375,4031	190.9+/-216.7	18,339,1846	146	138	141		156	-8.2	0.1	7	dbSNP_86	141	1527,7073	287.0+/-298.0	131,1265,2904	no	coding-synonymous	ZFAND2A	NM_182491.2		149,1604,4750	CC,CA,AA		17.7558,8.5111,14.624		52/146	1195215	1902,11104	2203	4300	6503	SO:0001819	synonymous_variant	90637	exon4			GACGTGAACATCC	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.156T>G	7.37:g.1195215A>C		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	101	6	NM_182491	0	0	1	1	0	A4D220	Silent	SNP	ENST00000316495.3	37	CCDS5323.1																																																																																			A|0.857;C|0.143		0.448	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		C	1195215	A	C	1195215	2	2	18	1	0	0	0	0	0	0	0	1	17675	233	9	5		5	ZFAND2A	7	1195215	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		1195215	157943448	67	3553											
ETV1	2115	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	13971355	13971355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaaaggagttacagggttCagaaagctggcggcgaaatc	15	6	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:13971355C>T	ENST00000430479.1	-	9	1241	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ETV1_ENST00000405192.2_Missense_Mutation_p.E192K|ETV1_ENST00000420159.2_Missense_Mutation_p.E134K|ETV1_ENST00000343495.5_Missense_Mutation_p.E174K|ETV1_ENST00000242066.5_Missense_Mutation_p.E174K|ETV1_ENST00000399357.3_Missense_Mutation_p.E89K|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.E152K|ETV1_ENST00000405218.2_Missense_Mutation_p.E192K|ETV1_ENST00000405358.4_Missense_Mutation_p.E206K|ETV1_ENST00000403685.1_Missense_Mutation_p.E174K	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	192					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGGGTTCAGAAAGCTGG	0.468			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																p.E192K		.		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	.	ETV1-659	0			c.G574A						.						85	84	84					7																	13971355		1963	4138	6101	SO:0001583	missense	2115	exon9			AGGGTTCAGAAAG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.574G>A	7.37:g.13971355C>T	ENSP00000405327:p.Glu192Lys	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	267	18	NM_004956	0	0	5	5	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802127	0.96960	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.73217	2.22	0.38075	D	0.936482	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;0.99;0.99;0.992;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.971;0.995;0.979;0.996;0.987;0.978;0.996	T	0.59799	-0.7386	10	0.66056	D	0.02	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	203;174;206;134;89;152;134;192	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	K	192;174;174;134;89;192;206;152;192;174;134;89	ENSP00000405327:E192K;ENSP00000242066:E174K;ENSP00000340853:E174K;ENSP00000411626:E134K;ENSP00000382293:E89K;ENSP00000385381:E192K;ENSP00000384085:E206K;ENSP00000384138:E152K;ENSP00000385551:E192K;ENSP00000385686:E174K;ENSP00000393078:E134K;ENSP00000394710:E89K	ENSP00000242066:E174K	E	-	1	0	ETV1	13937880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	GAA	.		0.468	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		T	13971355	C	T	13971355	3	4	18	1	0	0	0	0	1	0	0	0	5293	835	29	3	883	3	ETV1	7	13971355	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	12776140	13971355	145167308	68	3554											
AMPH	273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	38466556	38466556	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacagattccttacctGtgtgaatccattaaatgaac	6	8	0	4			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:38466556G>C	ENST00000356264.2	-	15	1428	c.1213C>G	c.(1213-1215)Cag>Gag	p.Q405E	AMPH_ENST00000325590.5_Missense_Mutation_p.Q405E|AMPH_ENST00000428293.2_Missense_Mutation_p.Q405E|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	405					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCCTTACCTGTGTGAATCCA	0.348																																					p.Q405E		.											.	AMPH-95	0			c.C1213G						.						142	136	138					7																	38466556		2203	4300	6503	SO:0001583	missense	273	exon15			TTACCTGTGTGAA		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1213C>G	7.37:g.38466556G>C	ENSP00000348602:p.Gln405Glu	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	118	20	NM_139316	0	0	0	0	0	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.87|19.87	3.906544|3.906544	0.72868|0.72868	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000421537|ENST00000441628	T;T;T|T	0.59772|0.47528	0.29;0.24;0.28|0.84	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.374634|.	0.27327|.	N|.	0.019872|.	T|T	0.55924|0.55924	0.1951|0.1951	L|L	0.40543|0.40543	1.245|1.245	0.39513|0.39513	D|D	0.968398|0.968398	D;D;D;D|.	0.89917|.	1.0;0.99;0.987;0.969|.	D;P;P;D|.	0.85130|.	0.997;0.789;0.695;0.93|.	T|T	0.54186|0.54186	-0.8331|-0.8331	10|7	0.23302|0.44086	T|T	0.38|0.13	17.1005|17.1005	19.465|19.465	0.94934|0.94934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493;405;405;335|.	Q8NFL6;P49418-2;P49418;Q8NFL4|.	.;.;AMPH_HUMAN;.|.	E|R	405;405;405;349;172|329	ENSP00000317441:Q405E;ENSP00000348602:Q405E;ENSP00000390734:Q405E|ENSP00000415085:T329R	ENSP00000317441:Q405E|ENSP00000415085:T329R	Q|T	-|-	1|2	0|0	AMPH|AMPH	38433081|38433081	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.857000|0.857000	0.48899|0.48899	6.871000|6.871000	0.75531|0.75531	2.600000|2.600000	0.87896|0.87896	0.563000|0.563000	0.77884|0.77884	CAG|ACA	.		0.348	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		C	38466556	G	C	38466556	3	2	18	1	0	0	0	0	1	0	0	0	588	1386	48	3	902	3	AMPH	7	38466556	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	24495201	38466556	120672107	69	3555											
GLI3	2737	bcgsc.ca	37	chr7	42079765	42079765	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcaaagctatgatcGgagagtggtgatatggacag	15	4	1	4	rs35961850	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:42079765G>C	ENST00000395925.3	-	7	984	c.900C>G	c.(898-900)tcC>tcG	p.S300S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	300					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGCTATGATCGGAGAGTGGTG	0.488									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.S300S		.											.	GLI3-1149	0			c.C900G						.						211	186	195					7																	42079765		2203	4300	6503	SO:0001819	synonymous_variant	2737	exon7	Familial Cancer Database	;	ATGATCGGAGAGT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.900C>G	7.37:g.42079765G>C		Somatic	247	0		WXS	Illumina GAIIx	Phase_I	280	10	NM_000168	0	0	1	1	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																			G|0.931;A|0.069		0.488	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		C	42079765	G	C	42079765	2	2	18	1	0	0	0	0	0	0	0	1	6465	1103	39	2		2	GLI3	7	42079765	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	3613209	42079765	117058898	70	3556											
ZMIZ2	83637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44800087	44800087	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccccacgccacccatgAccccaagcagcagcgtccct	8	20	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:44800087A>T	ENST00000309315.4	+	9	1258	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.T379S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.T321S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.T347S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.T353S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	379	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						GCCACCCATGACCCCAAGCAG	0.577																																					p.T379S	NSCLC(20;604 852 1948 16908 50522)	.											.	ZMIZ2-137	0			c.A1135T						.						139	153	148					7																	44800087		2139	4264	6403	SO:0001583	missense	83637	exon9			CCCATGACCCCAA	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.1135A>T	7.37:g.44800087A>T	ENSP00000311778:p.Thr379Ser	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	320	45	NM_031449	0	0	9	9	0	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568833	0.86439	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.53	4.37	0.52481	.	0.000000	0.56097	D	0.000026	T	0.76564	0.4005	M	0.74881	2.28	0.48975	D	0.999736	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.996	T	0.77016	-0.2744	10	0.56958	D	0.05	-16.1663	10.8399	0.46708	0.9252:0.0:0.0748:0.0	.	353;379;321	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	S	321;379;379;347;353;379	ENSP00000409648:T321S;ENSP00000311778:T379S;ENSP00000414723:T379S;ENSP00000396601:T347S;ENSP00000265346:T353S	ENSP00000265346:T353S	T	+	1	0	ZMIZ2	44766612	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.144000	0.77357	0.937000	0.37394	0.459000	0.35465	ACC	.		0.577	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		T	44800087	A	T	44800087	3	4	18	1	0	0	0	0	1	0	0	0	17745	275	10	5	1165	5	ZMIZ2	7	44800087	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	2720322	44800087	114338576	71	3557											
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	88964602	88964602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctacttgtctgatgataTaacaaagagcagccaaatgc	7	9	2	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:88964602T>C	ENST00000333190.4	+	4	2915	c.2306T>C	c.(2305-2307)aTa>aCa	p.I769T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	769							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGATGATATAACAAAGAGC	0.373										HNSCC(36;0.09)																											p.I769T		.											.	ZNF804B-101	0			c.T2306C						.						57	51	53					7																	88964602		2203	4300	6503	SO:0001583	missense	219578	exon4			ATGATATAACAAA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2306T>C	7.37:g.88964602T>C	ENSP00000329638:p.Ile769Thr	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	220	68	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	5.799	0.331677	0.10956	.	.	ENSG00000182348	ENST00000333190	T	0.04406	3.63	5.39	-7.44	0.01379	.	2.088330	0.01326	N	0.011103	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43972	-0.9358	10	0.14656	T	0.56	4.6728	4.0423	0.09756	0.1188:0.3976:0.3286:0.1549	.	769	A4D1E1	Z804B_HUMAN	T	769	ENSP00000329638:I769T	ENSP00000329638:I769T	I	+	2	0	ZNF804B	88802538	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.407000	0.07178	-0.955000	0.03636	0.528000	0.53228	ATA	.		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		C	88964602	T	C	88964602	3	2	18	1	0	0	0	0	1	0	0	0	18219	1406	49	4	2320	4	ZNF804B	7	88964602	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	44164515	88964602	70174061	72	3558											
WNT16	51384	bcgsc.ca	37	chr7	120979089	120979089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccagatatcagacaaaaCaaagaggaaaatgcgcagga	9	7	1	3	rs2707466	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:120979089C>T	ENST00000222462.2	+	4	1078	c.788C>T	c.(787-789)aCa>aTa	p.T263I	WNT16_ENST00000361301.2_Missense_Mutation_p.T253I	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	263			T -> I (in dbSNP:rs2707466). {ECO:0000269|PubMed:11095990}.		bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGACAAAACAAAGAGGAAA	0.363													T|||	2519	0.502995	0.9017	0.4063	5008	,	,		22765	0.1716		0.4404	False		,,,				2504	0.4387				p.T263I		.											.	WNT16-1011	0			c.C788T						.	T	ILE/THR,ILE/THR	3624,782	316.9+/-294.8	1493,638,72	75	77	76		758,788	2.7	1	7	dbSNP_100	76	3922,4678	606.5+/-395.1	912,2098,1290	yes	missense,missense	WNT16	NM_016087.2,NM_057168.1	89,89	2405,2736,1362	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	45.6047,17.7485,41.9806	benign,benign	253/356,263/366	120979089	7546,5460	2203	4300	6503	SO:0001583	missense	51384	exon4			ACAAAACAAAGAG	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.788C>T	7.37:g.120979089C>T	ENSP00000222462:p.Thr263Ile	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	72	6	NM_057168	0	0	1	1	0	Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	CCDS5781.1	1030	0.4716117216117216	442	0.8983739837398373	158	0.43646408839779005	100	0.17482517482517482	330	0.43535620052770446	T	11.32	1.602926	0.28534	0.822515	0.456047	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.76186	-1.0;-1.0	5.51	2.66	0.31614	.	.	.	.	.	T	0.00012	0.0000	N	0.25060	0.705	0.51233	P	8.699999999994823E-5	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.31833	-0.9929	8	0.29301	T	0.29	.	9.1866	0.37174	0.0:0.2482:0.0:0.7518	rs2707466;rs52828976;rs56918180;rs2707466	263;253	Q9UBV4;E9PH60	WNT16_HUMAN;.	I	253;263	ENSP00000355065:T253I;ENSP00000222462:T263I	ENSP00000222462:T263I	T	+	2	0	WNT16	120766325	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	2.782000	0.47758	0.021000	0.15133	-0.254000	0.11334	ACA	C|0.462;T|0.538		0.363	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		T	120979089	C	T	120979089	3	4	18	1	0	0	0	0	1	0	0	0	17434	478	17	3	871	3	WNT16	7	120979089	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	32014487	120979089	38159574	73	3559											
WDR91	29062	bcgsc.ca	37	chr7	134871775	134871775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcatgtaatttccctcCgagtcaaaagcgaagagtcg	10	10	2	1	rs292557	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr7:134871775C>T	ENST00000354475.4	-	14	2059	c.2028G>A	c.(2026-2028)tcG>tcA	p.S676S	WDR91_ENST00000423565.1_Silent_p.S641S|WDR91_ENST00000344400.5_3'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	676										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATTTCCCTCCGAGTCAAAAG	0.577													C|||	3566	0.712061	0.4962	0.8372	5008	,	,		19133	0.8214		0.7068	False		,,,				2504	0.8078				p.S676S		.											.	WDR91-137	0			c.G2028A						.	C		2436,1970	619.7+/-393.4	683,1070,450	122	125	124		2028	-10.8	0.1	7	dbSNP_79	124	6247,2353	702.9+/-405.3	2279,1689,332	no	coding-synonymous	WDR91	NM_014149.3		2962,2759,782	TT,TC,CC		27.3605,44.7118,33.2385		676/748	134871775	8683,4323	2203	4300	6503	SO:0001819	synonymous_variant	29062	exon14			TCCCTCCGAGTCA	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.2028G>A	7.37:g.134871775C>T		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	131	5	NM_014149	0	0	4	4	0	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																			C|0.315;N|0.000		0.577	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134871775	C	T	134871775	2	4	18	1	0	0	0	0	0	0	0	1	17387	639	23	1		1	WDR91	7	134871775	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	13892686	134871775	24266888	74	3560											
DERL1	79139	bcgsc.ca	37	chr8	124031541	124031541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccaataagctcattgaTtaccctgcaaagagagccaa	6	10	1	2	rs2272722	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr8:124031541T>C	ENST00000259512.4	-	7	811	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Missense_Mutation_p.I71V|DERL1_ENST00000519018.1_Missense_Mutation_p.I71V|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000419562.2_Missense_Mutation_p.I71V	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	171			I -> V (in dbSNP:rs2272722).		endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGCTCATTGATTACCCTGCAA	0.388													T|||	265	0.0529153	0.0953	0.0677	5008	,	,		21308	0.005		0.0626	False		,,,				2504	0.0245				p.I171V		.											.	DERL1-226	0			c.A511G						.	T	,VAL/ILE	321,4085	169.1+/-199.8	13,295,1895	64	62	62		,511	4.4	0.8	8	dbSNP_100	62	695,7905	171.3+/-222.3	28,639,3633	yes	intron,missense	DERL1	NM_001134671.1,NM_024295.4	,29	41,934,5528	CC,CT,TT		8.0814,7.2855,7.8118	,benign	,171/252	124031541	1016,11990	2203	4300	6503	SO:0001583	missense	79139	exon7			CATTGATTACCCT	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.511A>G	8.37:g.124031541T>C	ENSP00000259512:p.Ile171Val	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_024295	0	0	0	0	0	B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	CCDS6337.1	136	0.06227106227106227	54	0.10975609756097561	35	0.09668508287292818	3	0.005244755244755245	44	0.05804749340369393	T	4.278	0.050812	0.08243	0.072855	0.080814	ENSG00000136986	ENST00000259512;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.61	4.45	0.53987	.	0.234322	0.45867	D	0.000330	T	0.00241	0.0007	N	0.04959	-0.14	0.35251	D	0.778677	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.002	T	0.29882	-0.9997	10	0.12430	T	0.62	.	8.8661	0.35286	0.0:0.1439:0.0:0.8561	rs2272722;rs52815824;rs60455215;rs2272722	71;171	B4E1G1;Q9BUN8	.;DERL1_HUMAN	V	171;71;71;71	ENSP00000259512:I171V;ENSP00000389965:I71V;ENSP00000430086:I71V;ENSP00000429199:I71V	ENSP00000259512:I171V	I	-	1	0	DERL1	124100722	0.997000	0.39634	0.766000	0.31476	0.958000	0.62258	2.937000	0.48979	0.953000	0.37825	-0.274000	0.10170	ATC	T|0.926;C|0.074		0.388	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		C	124031541	T	C	124031541	3	2	18	1	0	0	0	0	1	0	0	0	4460	1493	52	4	252	4	DERL1	8	124031541	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		124031541	22332481	75	3561											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_030895	0	0	0	4	4	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	18	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	20347327	144378868	1985154	76	3562											
C8orf73	642475	hgsc.bcm.edu	37	chr8	144649625	144649625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggggtcgctctgcagTcgccctaggtctgcgaggag	17	11	2	0	rs10097556	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_Intron|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	648																	CGCTCTGCAGTCGCCCTAGGT	0.771													C|||	4736	0.945687	0.8041	0.9841	5008	,	,		9094	1		0.998	False		,,,				2504	1				p.R648R		.											.	.	0			c.A1944G						.						2	3	2					8																	144649625		1227	2564	3791	SO:0001819	synonymous_variant	642475	exon14			CTGCAGTCGCCCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1944A>G	8.37:g.144649625T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001100878	0	0	0	2	2	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.058;C|0.942		0.771	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144649625	T	C	144649625	2	2	18	1	0	0	0	0	0	0	0	1	2442	1654	58	4		4	C8orf73	8	144649625	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	270757	144649625	1714397	77	3563											
TSTA3	7264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144695922	144695922	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggctgaggtacccaccGgagaggatgatgggctccac	16	10	0	4			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr8:144695922G>A	ENST00000425753.2	-	8	832	c.729C>T	c.(727-729)tcC>tcT	p.S243S	TSTA3_ENST00000529064.1_Splice_Site_p.S243S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	243					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTACCCACCGGAGAGGATGA	0.597																																					p.S243S		.											.	TSTA3-91	0			c.C729T						.						32	28	29					8																	144695922		2116	4099	6215	SO:0001630	splice_region_variant	7264	exon8			CCCACCGGAGAGG	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.730+1C>T	8.37:g.144695922G>A		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	223	49	NM_003313	0	0	0	1	1	B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	37	CCDS6408.1																																																																																			.		0.597	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313	Silent	A	144695922	G	A	144695922	5	1	18	1	0	0	0	0	0	0	1	0	16722	1130	39	1	252	1	TSTA3	8	144695922	Splice_Site	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	46297	144695922	1668100	78	3564											
NFKBIL2	4796	hgsc.bcm.edu	37	chr8	145661675	145661675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggagaccctgacatggGcctgagaggcctctgggagt	17	10	1	3	rs7830832	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr8:145661675G>A	ENST00000409379.3	-	17	2170	c.2141C>T	c.(2140-2142)gCc>gTc	p.A714V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	714			A -> V (in dbSNP:rs7830832). {ECO:0000269|PubMed:15489334}.		cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCTGACATGGGCCTGAGAGGC	0.652													G|||	2215	0.442292	0.3192	0.4265	5008	,	,		13977	0.4246		0.4662	False		,,,				2504	0.6135				p.A714V		.											.	TONSL-92	0			c.C2141T						.	G	VAL/ALA	1506,2844		286,934,955	19	26	24		2141	2.8	0.1	8	dbSNP_116	24	3865,4627		955,1955,1336	yes	missense	TONSL	NM_013432.4	64	1241,2889,2291	AA,AG,GG		45.5134,34.6207,41.8237	probably-damaging	714/1379	145661675	5371,7471	2175	4246	6421	SO:0001583	missense	4796	exon17			ACATGGGCCTGAG		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2141C>T	8.37:g.145661675G>A	ENSP00000386239:p.Ala714Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_013432	0	0	4	6	2	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	856	0.39194139194139194	153	0.31097560975609756	148	0.4088397790055249	216	0.3776223776223776	339	0.4472295514511873	G	20.8	4.054738	0.75960	0.346207	0.455134	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.48836	0.8	3.73	2.85	0.33270	.	0.748949	0.12251	N	0.485589	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.14805	0.011	B	0.14578	0.011	T	0.45249	-0.9274	9	0.26408	T	0.33	-5.5318	7.1129	0.25401	0.1264:0.0:0.8736:0.0	rs7830832;rs17850384;rs59752457;rs7830832	714	Q96HA7	TONSL_HUMAN	V	714;713	ENSP00000386239:A714V	ENSP00000386239:A714V	A	-	2	0	TONSL	145632483	0.001000	0.12720	0.074000	0.20217	0.742000	0.42306	0.522000	0.22909	0.902000	0.36520	0.462000	0.41574	GCC	G|0.593;A|0.407		0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661675	G	A	145661675	3	1	18	1	0	0	0	0	1	0	0	0	10421	1203	42	3	2035	3	NFKBIL2	8	145661675	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	965753	145661675	702347	79	3565											
DDX58	23586	bcgsc.ca	37	chr9	32487537	32487537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgttgctatcactgacGcatcaagagaagcacacagc	9	11	2	3	rs139635230		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:32487537G>T	ENST00000379883.2	-	9	1464	c.1307C>A	c.(1306-1308)gCg>gAg	p.A436E	DDX58_ENST00000379868.1_Missense_Mutation_p.A233E|DDX58_ENST00000379882.1_Missense_Mutation_p.A391E|DDX58_ENST00000545044.1_Missense_Mutation_p.A233E|DDX58_ENST00000542096.1_Missense_Mutation_p.A365E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	436	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCACTGACGCATCAAGAGA	0.453																																					p.A436E		.											.	DDX58-230	0			c.C1307A						.						138	122	128					9																	32487537		2203	4300	6503	SO:0001583	missense	23586	exon9			ACTGACGCATCAA	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1307C>A	9.37:g.32487537G>T	ENSP00000369213:p.Ala436Glu	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_014314	0	0	1	1	0	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337783	0.41398	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12147	3.26;3.26;3.16;3.13;2.71	4.84	0.93	0.19454	DEAD-like helicase (1);ATPase, AAA+ type, core (1);	0.684951	0.13114	N	0.412788	T	0.30823	0.0777	M	0.77486	2.375	0.09310	N	1	D;D;D;D	0.63046	0.961;0.992;0.971;0.984	P;P;P;P	0.62740	0.665;0.906;0.668;0.668	T	0.08146	-1.0736	10	0.44086	T	0.13	-0.009	8.2406	0.31658	0.4072:0.0:0.5928:0.0	.	233;391;365;436	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	E	391;436;233;365;233	ENSP00000369212:A391E;ENSP00000369213:A436E;ENSP00000369197:A233E;ENSP00000442160:A365E;ENSP00000443055:A233E	ENSP00000369197:A233E	A	-	2	0	DDX58	32477537	0.000000	0.05858	0.172000	0.22920	0.595000	0.36748	0.369000	0.20416	-0.024000	0.13941	-0.145000	0.13849	GCG	G|1.000;A|0.000		0.453	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		T	32487537	G	T	32487537	3	4	18	1	0	0	0	0	1	0	0	0	4384	1087	38	2	1510	2	DDX58	9	32487537	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10		32487537	108725894	80	3566											
BAG1	51510	hgsc.bcm.edu	37	chr9	33264540	33264540	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actccgggcaggtggacgccCagagggaggcggaccacgct	17	13	0	1	rs1071545	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:33264540C>G	ENST00000223500.8	+	0	0				BAG1_ENST00000379704.2_5'UTR|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000472232.3_Missense_Mutation_p.G45R	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGTGGACGCCCAGAGGGAGGC	0.771													G|||	4905	0.979433	0.9251	0.9942	5008	,	,		8749	1		1	False		,,,				2504	1				p.G45R		.											.	BAG1-228	0			c.G133C						.		,ARG/GLY	3714,198		1759,196,1	4	5	4		,133	3.6	0	9	dbSNP_86	4	7514,4		3755,4,0	no	utr-5,missense	BAG1	NM_001172415.1,NM_004323.5	,125	5514,200,1	GG,GC,CC		0.0532,5.0613,1.7673	,benign	,45/346	33264540	11228,202	1956	3759	5715	SO:0001631	upstream_gene_variant	573	exon1			GACGCCCAGAGGG	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264540C>G	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_004323	0	0	0	20	20	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	CCDS6537.1	2143	0.9812271062271062	452	0.9186991869918699	361	0.9972375690607734	572	1.0	758	1.0	G	5.424	0.263435	0.10294	0.949387	0.999468	ENSG00000107262	ENST00000472232	.	.	.	3.62	3.62	0.41486	.	0.965269	0.08484	N	0.939035	T	0.00012	0.0000	N	0.08118	0	0.47407	P	5.870000000000042E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	8	0.06236	T	0.91	-3.4106	9.2895	0.37778	0.0:0.2201:0.7798:0.0	rs1071545;rs1702659;rs59772010	45	Q99933	BAG1_HUMAN	R	45	.	ENSP00000420514:G45R	G	-	1	0	BAG1	33254540	0.798000	0.28890	0.040000	0.18447	0.006000	0.05464	0.985000	0.29578	1.113000	0.41760	-0.674000	0.03794	GGG	C|0.976;G|0.024		0.771	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		G	33264540	C	G	33264540	1	3	18	0	1	0	0	0	0	0	0	0	1287	594	21	3		3	BAG1	9	33264540	5'Flank	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	777003	33264540	107948891	81	3567											
OR2S2	56656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	35958062	35958062	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcaggagaacgaaccCcatcacaggggaggtctcat	12	12	3	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:35958062C>G	ENST00000341959.2	-	1	89	c.34G>C	c.(34-36)Ggg>Cgg	p.G12R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	12					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGAACGAACCCCATCACAGGG	0.537																																					p.G12R	Pancreas(172;293 2036 17878 24427 30946)	.											.	OR2S2-68	0			c.G34C						.						40	40	40					9																	35958062		2203	4300	6503	SO:0001583	missense	56656	exon1			CGAACCCCATCAC	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.34G>C	9.37:g.35958062C>G	ENSP00000344040:p.Gly12Arg	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	104	13	NM_019897	0	0	0	0	0	Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	8.410	0.843976	0.16963	.	.	ENSG00000122718	ENST00000341959	T	0.02974	4.09	4.07	1.17	0.20885	.	0.579808	0.15563	N	0.255848	T	0.02494	0.0076	L	0.38953	1.18	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42582	-0.9443	10	0.39692	T	0.17	.	5.0597	0.14551	0.1684:0.641:0.0:0.1906	.	12	Q9NQN1	OR2S1_HUMAN	R	12	ENSP00000344040:G12R	ENSP00000344040:G12R	G	-	1	0	OR2S2	35948062	0.000000	0.05858	0.137000	0.22149	0.485000	0.33311	0.816000	0.27267	0.254000	0.21573	0.655000	0.94253	GGG	.		0.537	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		G	35958062	C	G	35958062	3	3	18	1	0	0	0	0	1	0	0	0	11054	623	22	3	929	3	OR2S2	9	35958062	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	2693522	35958062	105255369	82	3568											
ZCCHC6	79670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	88954993	88954994	+	Frame_Shift_Del	DEL	AA	AA	-													ccactggcaccctagcatggAagtctgcatcaacatcaata							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	AA	AA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:88954993_88954994delAA	ENST00000375963.3	-	8	1337_1338	c.1165_1166delTT	c.(1165-1167)ttcfs	p.F389fs	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Frame_Shift_Del_p.F27fs|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.F389fs	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	389					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCTAGCATGGAAGTCTGCATCA	0.361																																					p.389_389del		.											.	ZCCHC6-92	0			c.1165_1166del						.																																			SO:0001589	frameshift_variant	79670	exon8			GCATGGAAGTCTG	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1165_1166delTT	9.37:g.88954993_88954994delAA	ENSP00000365130:p.Phe389fs	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	53	17	NM_024617	0	0	0	0	0	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	ENST00000375963.3	37	CCDS35057.1																																																																																			.		0.361	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		-	88954994	AA	-	88954993	7	5	18	1	0	1	0	1	0	0	0	0	17640	246	9	0	3401	0	ZCCHC6	9	88954993	Frame_Shift_Del	DEL	AA	TCGA-OR-A5JP-01A-11D-A29I-10	52996931	88954993	52258438	83	3569											
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	18	1	0	0	0	0	1	0	0	0	17337	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	42463835	131418828	9794603	84	3570											
FUBP3	8939	bcgsc.ca	37	chr9	133501801	133501802	+	Frame_Shift_Ins	INS	-	-	CGTGGCGACTGGAG													ccagaggaagaggtcgtggcINScgtggcgactggagcgtggg							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:133501801_133501802insCGTGGCGACTGGAG	ENST00000319725.9	+	12	1101_1102	c.1026_1027insCGTGGCGACTGGAG	c.(1027-1029)cgtfs	p.-347fs		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3						positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GAGGTCGTGGCCGTGGCGACTG	0.609											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G342fs		.											.	FUBP3-69	0			c.1026_1027insCGTGGCGACTGGAG						.																																			SO:0001589	frameshift_variant	8939	exon12			TCGTGGCCGTGGC	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1027_1040dupCGTGGCGACTGGAG	9.37:g.133501801_133501802insCGTGGCGACTGGAG	ENSP00000318177:p.Ser347fs	Somatic	88	0	1603	WXS	Illumina GAIIx	Phase_I	111	4	NM_003934	0	0	0	0	0	A3KFK8|A3KFL0|Q92946|Q9BVB6	Frame_Shift_Ins	INS	ENST00000319725.9	37	CCDS43893.1																																																																																			.		0.609	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			CGTGGCGACTGGAG	133501802	-	CGTGGCGACTGGAG	133501801	7	5	18	1	0	1	1	0	0	0	0	0	6117	726	26	0	1072	0	FUBP3	9	133501801	Frame_Shift_Ins	INS	-	TCGA-OR-A5JP-01A-11D-A29I-10	2082973	133501801	7711630	85	3571											
SURF2	6835	hgsc.bcm.edu	37	chr9	136223541	136223541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggctccagacggacgccCgcaaggttcgcagcgcggga	16	14	0	1	rs143037947	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:136223541C>T	ENST00000371964.4	+	1	114	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	SURF1_ENST00000495952.1_5'Flank|SURF2_ENST00000495524.1_3'UTR|SURF1_ENST00000371974.3_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	25						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GACGGACGCCCGCAAGGTTCG	0.736													C|||	121	0.0241613	0.0015	0.0922	5008	,	,		6577	0.001		0.0129	False		,,,				2504	0.0419				p.R25C		.											.	SURF2-226	0			c.C73T						.	C	CYS/ARG	8,2794		0,8,1393	2	3	3		73	-5.3	0	9	dbSNP_134	3	79,6487		0,79,3204	yes	missense	SURF2	NM_017503.3	180	0,87,4597	TT,TC,CC		1.2032,0.2855,0.9287	benign	25/257	136223541	87,9281	1401	3283	4684	SO:0001583	missense	6835	exon1			GACGCCCGCAAGG		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.73C>T	9.37:g.136223541C>T	ENSP00000361032:p.Arg25Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	7	NM_017503	0	0	0	0	0	Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	CCDS6967.1	64	0.029304029304029304	10	0.02032520325203252	31	0.0856353591160221	11	0.019230769230769232	12	0.0158311345646438	C	10.47	1.358826	0.24598	0.002855	0.012032	ENSG00000148291	ENST00000371964	T	0.32753	1.44	2.63	-5.26	0.02772	.	1.643460	0.03313	N	0.190733	T	0.00608	0.0020	N	0.16478	0.41	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.12218	-1.0556	10	0.51188	T	0.08	-4.7044	4.956	0.14041	0.1023:0.1208:0.5084:0.2685	.	25	Q15527	SURF2_HUMAN	C	25	ENSP00000361032:R25C	ENSP00000361032:R25C	R	+	1	0	SURF2	135213362	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-4.104000	0.00294	-2.470000	0.00530	0.297000	0.19635	CGC	C|0.971;T|0.029		0.736	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		T	136223541	C	T	136223541	3	4	18	1	0	0	0	0	1	0	0	0	15451	652	23	1	75	1	SURF2	9	136223541	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	2721740	136223541	4989890	86	3572											
DBH	1621	hgsc.bcm.edu;bcgsc.ca	37	chr9	136501584	136501584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggccatcttcctgGtcatcctggtggccgcactg	12	14	2	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:136501584G>T	ENST00000393056.2	+	1	103	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	31					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CATCTTCCTGGTCATCCTGGT	0.687																																					p.V31F		.											.	DBH-516	0			c.G91T						.						45	44	44					9																	136501584		2203	4300	6503	SO:0001583	missense	1621	exon1			TTCCTGGTCATCC	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.91G>T	9.37:g.136501584G>T	ENSP00000376776:p.Val31Phe	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	100	5	NM_000787	0	0	0	0	0	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903799	0.72754	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.52983	0.66;0.64	5.5	4.5	0.54988	.	0.171142	0.51477	D	0.000084	T	0.52725	0.1752	M	0.73598	2.24	0.51233	D	0.99991	D	0.53619	0.961	P	0.50405	0.64	T	0.58346	-0.7652	10	0.72032	D	0.01	-32.764	5.9731	0.19363	0.1788:0.1785:0.6427:0.0	.	31	P09172	DOPO_HUMAN	F	31;17;17	ENSP00000376776:V31F;ENSP00000263611:V17F	ENSP00000263611:V17F	V	+	1	0	DBH	135491405	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.419000	0.52728	2.597000	0.87782	0.491000	0.48974	GTC	.		0.687	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136501584	G	T	136501584	3	4	18	1	0	0	0	0	1	0	0	0	4259	1261	44	3	93	3	DBH	9	136501584	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	278043	136501584	4711847	87	3573											
ENTPD2	954	hgsc.bcm.edu	37	chr9	139943400	139943400	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgccccagcccaccttcttcTggaagatcacgccgccgaag	9	18	3	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr9:139943400T>A	ENST00000355097.2	-	8	1324	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	ENTPD2_ENST00000312665.5_Missense_Mutation_p.Q403L|NPDC1_ENST00000371601.4_5'Flank|ENTPD2_ENST00000460614.1_5'UTR|NPDC1_ENST00000488145.1_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	426					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACCTTCTTCTGGAAGATCAC	0.746																																					p.Q426L		.											.	ENTPD2-90	0			c.A1277T						.						1	2	2					9																	139943400		1150	2640	3790	SO:0001583	missense	954	exon8			TTCTTCTGGAAGA	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1277A>T	9.37:g.139943400T>A	ENSP00000347213:p.Gln426Leu	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	21	21	NM_203468	0	0	0	0	0	O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034123	0.54896	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.12361	2.91;2.69	3.65	2.5	0.30297	.	0.058782	0.64402	D	0.000001	T	0.27594	0.0678	M	0.72894	2.215	0.44603	D	0.997574	D;D;D	0.65815	0.995;0.993;0.993	P;P;P	0.62014	0.897;0.794;0.794	T	0.01334	-1.1382	10	0.34782	T	0.22	-10.5801	8.1048	0.30879	0.0:0.1002:0.0:0.8998	.	403;426;426	Q9Y5L3-2;Q9Y5L3;Q5SPY7	.;ENTP2_HUMAN;.	L	426;403	ENSP00000347213:Q426L;ENSP00000312494:Q403L	ENSP00000312494:Q403L	Q	-	2	0	ENTPD2	139063221	1.000000	0.71417	0.983000	0.44433	0.461000	0.32589	2.260000	0.43267	0.579000	0.29504	0.368000	0.22195	CAG	.		0.746	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		A	139943400	T	A	139943400	3	1	18	1	0	0	0	0	1	0	0	0	5155	1580	55	5	218	5	ENTPD2	9	139943400	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	3441816	139943400	1270031	88	3574											
BICC1	80114	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	60273078	60273078	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgtggacaggaagaaacttGaggccatgttacaaggtagg	15	6	0	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:60273078G>T	ENST00000373886.3	+	1	179	c.175G>T	c.(175-177)Gag>Tag	p.E59*		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	59					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E59K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAAGAAACTTGAGGCCATGTT	0.657																																					p.E59X		.											.	BICC1-72	1	Substitution - Missense(1)	urinary_tract(1)	c.G175T						.						47	43	44					10																	60273078		2203	4300	6503	SO:0001587	stop_gained	80114	exon1			AAACTTGAGGCCA	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.175G>T	10.37:g.60273078G>T	ENSP00000362993:p.Glu59*	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	477	24	NM_001080512	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	g	36	5.968586	0.97156	.	.	ENSG00000122870	ENST00000373886	.	.	.	3.06	3.06	0.35304	.	0.000000	0.56097	U	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.7965	12.3312	0.55041	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000362993:E59X	E	+	1	0	BICC1	59943084	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	8.080000	0.89510	1.699000	0.51192	0.443000	0.29094	GAG	.		0.657	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		T	60273078	G	T	60273078	4	4	18	1	0	0	0	0	0	1	0	0	1429	1291	45	3	177	3	BICC1	10	60273078	Nonsense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10		60273078	75261669	89	3575											
SFTPD	6441	bcgsc.ca	37	chr10	81697756	81697756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccagggactctcctgtgGggtaggtgaacttgccctct	13	11	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:81697756G>A	ENST00000372292.3	-	8	1020	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	327	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCTCCTGTGGGGTAGGTGAA	0.572																																					p.P327L		.											.	SFTPD-91	0			c.C980T						.						155	153	153					10																	81697756		2203	4300	6503	SO:0001583	missense	6441	exon8			CCTGTGGGGTAGG	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.980C>T	10.37:g.81697756G>A	ENSP00000361366:p.Pro327Leu	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	141	6	NM_003019	0	0	0	0	0	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860048	0.32884	.	.	ENSG00000133661	ENST00000372292	T	0.19669	2.13	5.63	4.72	0.59763	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000020	T	0.13457	0.0326	L	0.35644	1.08	0.42176	D	0.991663	B	0.17852	0.024	B	0.20577	0.03	T	0.06716	-1.0811	10	0.05436	T	0.98	-5.51	8.4502	0.32866	0.1753:0.0:0.8247:0.0	.	327	P35247	SFTPD_HUMAN	L	327	ENSP00000361366:P327L	ENSP00000361366:P327L	P	-	2	0	SFTPD	81687736	0.997000	0.39634	0.808000	0.32385	0.912000	0.54170	2.926000	0.48892	1.367000	0.46095	0.591000	0.81541	CCC	.		0.572	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			A	81697756	G	A	81697756	3	1	18	1	0	0	0	0	1	0	0	0	14238	1232	43	3	151	3	SFTPD	10	81697756	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	21424678	81697756	53836991	90	3576											
KIF11	3832	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	94397209	94397209	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacaatctacatgaactAcaagaaaataccatttgttc	4	8	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:94397209A>G	ENST00000260731.3	+	16	2157	c.2067A>G	c.(2065-2067)ctA>ctG	p.L689L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	689					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACATGAACTACAAGAAAATA	0.353																																					p.L689L	Colon(47;212 1003 2764 4062 8431)	.											.	KIF11-227	0			c.A2067G						.						73	72	72					10																	94397209		2203	4300	6503	SO:0001819	synonymous_variant	3832	exon16			TGAACTACAAGAA	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2067A>G	10.37:g.94397209A>G		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	212	17	NM_004523	0	0	4	4	0	A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	CCDS7422.1																																																																																			.		0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		G	94397209	A	G	94397209	2	3	18	1	0	0	0	0	0	0	0	1	8299	378	14	4		4	KIF11	10	94397209	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	12699453	94397209	41137538	91	3577											
CYP2C8	1558	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	96802824	96802824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacatgatcaatctcttcCtggactttagctgacaagac	6	10	2	3	rs529746836		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:96802824C>T	ENST00000371270.3	-	7	1066	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP2C8_ENST00000535898.1_Silent_p.Q222Q|CYP2C8_ENST00000539050.1_Silent_p.Q238Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	324					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CAATCTCTTCCTGGACTTTAG	0.423													C|||	1	0.000199681	0	0	5008	,	,		18923	0		0	False		,,,				2504	0.001				p.Q324Q		.											.	CYP2C8-90	0			c.G972A						.						149	122	131					10																	96802824		2203	4300	6503	SO:0001819	synonymous_variant	1558	exon7			CTCTTCCTGGACT	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.972G>A	10.37:g.96802824C>T		Somatic	137	1		WXS	Illumina GAIIx	Phase_I	224	44	NM_000770	0	0	0	0	0	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	CCDS7438.1																																																																																			.		0.423	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		T	96802824	C	T	96802824	2	4	18	1	0	0	0	0	0	0	0	1	4176	680	24	3		3	CYP2C8	10	96802824	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	2405615	96802824	38731923	92	3578											
PIK3AP1	118788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	98408466	98408466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagccgtgtttctcagCgatggtgttggggtagtggc	16	8	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:98408466C>A	ENST00000339364.5	-	7	1254	c.1135G>T	c.(1135-1137)Gct>Tct	p.A379S	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A201S|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	379					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGTTTCTCAGCGATGGTGTTG	0.577																																					p.A379S		.											.	PIK3AP1-519	0			c.G1135T						.						113	87	96					10																	98408466		2203	4300	6503	SO:0001583	missense	118788	exon7			TCTCAGCGATGGT	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1135G>T	10.37:g.98408466C>A	ENSP00000339826:p.Ala379Ser	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	295	60	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449827	0.96205	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.52526	0.66;0.66	5.79	5.79	0.91817	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73886	-0.3841	10	0.87932	D	0	-17.9102	19.0248	0.92929	0.0:1.0:0.0:0.0	.	379	Q6ZUJ8	BCAP_HUMAN	S	379;201	ENSP00000339826:A379S;ENSP00000360151:A201S	ENSP00000339826:A379S	A	-	1	0	PIK3AP1	98398456	1.000000	0.71417	0.532000	0.27989	0.990000	0.78478	7.752000	0.85141	2.736000	0.93811	0.561000	0.74099	GCT	.		0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		A	98408466	C	A	98408466	3	1	18	1	0	0	0	0	1	0	0	0	11947	768	27	2	1326	2	PIK3AP1	10	98408466	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	1605642	98408466	37126281	93	3579											
PPRC1	23082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	103901266	103901266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtctactgttcccccacctCctttgcctccagcctccatt	5	19	1	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:103901266C>G	ENST00000278070.2	+	5	3040	c.3001C>G	c.(3001-3003)Cct>Gct	p.P1001A	PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1001A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1001	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCCCCACCTCCTTTGCCTCC	0.562																																					p.P1001A		.											.	PPRC1-227	0			c.C3001G						.						50	50	50					10																	103901266		2202	4300	6502	SO:0001583	missense	23082	exon5			CCACCTCCTTTGC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3001C>G	10.37:g.103901266C>G	ENSP00000278070:p.Pro1001Ala	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	95	10	NM_015062	0	0	6	10	4	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785653	0.49997	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.30182	1.66;1.54	5.79	5.79	0.91817	.	0.077729	0.53938	D	0.000054	T	0.46483	0.1395	L	0.32530	0.975	0.39925	D	0.974211	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.31668	-0.9935	10	0.42905	T	0.14	.	17.8243	0.88660	0.0:1.0:0.0:0.0	.	1001;881;1001	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	1001	ENSP00000278070:P1001A;ENSP00000399743:P1001A	ENSP00000278070:P1001A	P	+	1	0	PPRC1	103891256	0.000000	0.05858	1.000000	0.80357	0.450000	0.32258	0.043000	0.13971	2.745000	0.94114	0.462000	0.41574	CCT	.		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		G	103901266	C	G	103901266	3	3	18	1	0	0	0	0	1	0	0	0	12452	855	30	3	3019	3	PPRC1	10	103901266	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	5492800	103901266	31633481	94	3580											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001077494	0	0	0	11	11	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	18	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	257930	104159196	31375551	95	3581											
MKI67	4288	bcgsc.ca	37	chr10	129901747	129901747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgggtgctcttggcCgtctcctgctgccagttaca	10	14	2	0	rs10764749	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr10:129901747C>T	ENST00000368654.3	-	13	8732	c.8357G>A	c.(8356-8358)cGg>cAg	p.R2786Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R2426Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2786	16 X 122 AA approximate repeats.		R -> Q (in dbSNP:rs10764749).		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)				TGCTCTTGGCCGTCTCCTGCT	0.502													C|||	900	0.179712	0.0787	0.3112	5008	,	,		14562	0.1181		0.2704	False		,,,				2504	0.1933				p.R2786Q		.											.	MKI67-519	0			c.G8357A						.	C	GLN/ARG,GLN/ARG	412,3994	200.4+/-223.7	16,380,1807	75	75	75		7277,8357	-5	0	10	dbSNP_120	75	2131,6469	364.6+/-333.6	272,1587,2441	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	43,43	288,1967,4248	TT,TC,CC		24.7791,9.3509,19.5525	probably-damaging,probably-damaging	2426/2897,2786/3257	129901747	2543,10463	2203	4300	6503	SO:0001583	missense	4288	exon13			CTTGGCCGTCTCC	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.8357G>A	10.37:g.129901747C>T	ENSP00000357643:p.Arg2786Gln	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	66	5	NM_002417	0	0	6	6	0	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	433	0.19826007326007325	29	0.05894308943089431	119	0.3287292817679558	83	0.1451048951048951	202	0.26649076517150394	C	16.23	3.065692	0.55539	0.093509	0.247791	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01902	4.57;4.57	3.93	-5.02	0.02982	.	.	.	.	.	T	0.00012	0.0000	N	0.10874	0.06	0.80722	P	0.0	D;P;P	0.62365	0.991;0.698;0.743	P;B;B	0.50570	0.644;0.139;0.156	T	0.37709	-0.9694	8	0.12103	T	0.63	.	0.5841	0.00717	0.4036:0.2032:0.1195:0.2738	rs10764749;rs52837602;rs10764749	2785;2426;2786	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2786;2426;2785	ENSP00000357643:R2786Q;ENSP00000357642:R2426Q	ENSP00000357642:R2426Q	R	-	2	0	MKI67	129791737	0.000000	0.05858	0.000000	0.03702	0.412000	0.31113	-0.829000	0.04415	-1.121000	0.02949	0.655000	0.94253	CGG	C|0.808;T|0.192		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129901747	C	T	129901747	3	4	18	1	0	0	0	0	1	0	0	0	9636	652	23	1	1425	1	MKI67	10	129901747	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	25742551	129901747	5633000	96	3582											
DRD4	1815	hgsc.bcm.edu	37	chr11	639873	639873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaccctgcccgctcatGctgctgctctactgggccac	8	18	2	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:639873G>A	ENST00000176183.5	+	3	636	c.624G>A	c.(622-624)atG>atA	p.M208I		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	208					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	GCCCGCTCATGCTGCTGCTCT	0.731																																					p.M208I		.											.	DRD4-90	0			c.G624A						.						52	39	44					11																	639873		2200	4300	6500	SO:0001583	missense	1815	exon3			GCTCATGCTGCTG	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.624G>A	11.37:g.639873G>A	ENSP00000176183:p.Met208Ile	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	22	7	NM_000797	0	0	0	0	0	B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845580	0.71603	.	.	ENSG00000069696	ENST00000176183	T	0.31510	1.49	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.101474	0.64402	D	0.000003	T	0.52645	0.1747	.	.	.	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	T	0.56848	-0.7911	9	0.46703	T	0.11	.	13.265	0.60128	0.0:0.0:1.0:0.0	.	208	P21917	DRD4_HUMAN	I	208	ENSP00000176183:M208I	ENSP00000176183:M208I	M	+	3	0	DRD4	629873	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.794000	0.75135	1.695000	0.51148	0.462000	0.41574	ATG	.		0.731	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		A	639873	G	A	639873	3	1	18	1	0	0	0	0	1	0	0	0	4773	1319	46	3	634	3	DRD4	11	639873	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10		639873	134366643	97	3583											
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	21250963	21250963	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggacacagctgcacctgCaaaccgggctacgtggggaa	14	12	0	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:21250963C>A	ENST00000357134.5	+	14	1664	c.1512C>A	c.(1510-1512)tgC>tgA	p.C504*	NELL1_ENST00000298925.5_Nonsense_Mutation_p.C532*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.C447*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.C504*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	504	EGF-like 2; 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						GCTGCACCTGCAAACCGGGCT	0.567																																					p.C504X		.											.	NELL1-155	0			c.C1512A						.						107	76	87					11																	21250963		2203	4300	6503	SO:0001587	stop_gained	4745	exon14			CACCTGCAAACCG	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.1512C>A	11.37:g.21250963C>A	ENSP00000349654:p.Cys504*	Somatic	235	0		WXS	Illumina GAIIx	Phase_I	277	36	NM_006157	0	0	0	0	0	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	36	5.902959	0.97087	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.81	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1684	10.9561	0.47358	0.0:0.8581:0.0:0.1419	.	.	.	.	X	532;504;447;504	.	ENSP00000298925:C532X	C	+	3	2	NELL1	21207539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.073000	0.57570	1.468000	0.48064	-0.136000	0.14681	TGC	.		0.567	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	21250963	C	A	21250963	4	1	18	1	0	0	0	0	0	1	0	0	10372	718	25	3	1566	3	NELL1	11	21250963	Nonsense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	20611090	21250963	113755553	98	3584											
FERMT3	83706	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63978534	63978534	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctcaggcatccggcaCcccgaggagctgtccctgct	10	19	1	0	rs78810429	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:63978534C>G	ENST00000279227.5	+	4	500	c.405C>G	c.(403-405)caC>caG	p.H135Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.H135Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	135					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						GCATCCGGCACCCCGAGGAGC	0.617																																					p.H135Q		.											.	FERMT3-23	0			c.C405G						.						13	14	14					11																	63978534		2194	4292	6486	SO:0001583	missense	83706	exon4			CCGGCACCCCGAG	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.405C>G	11.37:g.63978534C>G	ENSP00000279227:p.His135Gln	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	88	22	NM_031471	0	0	0	0	0	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420815	0.42918	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.75704	-0.96;0.84;0.84	3.84	0.848	0.18966	Band 4.1 domain (1);	0.148042	0.43110	D	0.000602	T	0.73729	0.3624	L	0.46157	1.445	0.41546	D	0.988548	D;P	0.64830	0.994;0.628	P;B	0.56474	0.799;0.421	T	0.71083	-0.4695	10	0.66056	D	0.02	-21.2512	7.4651	0.27316	0.0:0.6915:0.0:0.3085	.	135;135	Q86UX7-2;Q86UX7	.;URP2_HUMAN	Q	135	ENSP00000445778:H135Q;ENSP00000339950:H135Q;ENSP00000279227:H135Q	ENSP00000279227:H135Q	H	+	3	2	FERMT3	63735110	0.997000	0.39634	0.997000	0.53966	0.937000	0.57800	0.503000	0.22610	-0.027000	0.13873	-0.350000	0.07774	CAC	C|0.993;T|0.007		0.617	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		G	63978534	C	G	63978534	3	3	18	1	0	0	0	0	1	0	0	0	5841	506	18	3	415	3	FERMT3	11	63978534	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	42727571	63978534	71027982	99	3585											
PYGM	5837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64518843	64518843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccaggaagatgacacgGaggcggtcacccactgccgg	13	13	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:64518843G>A	ENST00000164139.3	-	16	2321	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	PYGM_ENST00000377432.3_Silent_p.L553L|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	641					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						AGATGACACGGAGGCGGTCAC	0.587																																					p.L641L		.											.	PYGM-92	0			c.C1923T						.						85	84	84					11																	64518843		2201	4297	6498	SO:0001819	synonymous_variant	5837	exon16			GACACGGAGGCGG		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.1923C>T	11.37:g.64518843G>A		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	205	52	NM_005609	0	0	1	1	0	A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	CCDS8079.1																																																																																			.		0.587	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		A	64518843	G	A	64518843	2	1	18	1	0	0	0	0	0	0	0	1	12907	1161	41	3		3	PYGM	11	64518843	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	540309	64518843	70487673	100	3586											
SYVN1	84447	hgsc.bcm.edu	37	chr11	64898229	64898229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactgcgctggcagcgaTgcacgaaggacatccatacg	14	11	0	1	rs111304413	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:64898229T>C	ENST00000377190.3	-	11	1102	c.1008A>G	c.(1006-1008)gcA>gcG	p.A336A	SYVN1_ENST00000307289.6_Silent_p.A285A|SYVN1_ENST00000526121.1_5'UTR|SYVN1_ENST00000526060.1_Silent_p.A336A|SYVN1_ENST00000294256.8_Silent_p.A336A	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	336					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGGCAGCGATGCACGAAGGA	0.697													t|||	70	0.0139776	0.0507	0.0014	5008	,	,		10336	0		0.002	False		,,,				2504	0				p.A336A		.											.	SYVN1-91	0			c.A1008G						.	T	,	174,4228		1,172,2028	21	26	24		1008,1008	-0.3	1	11	dbSNP_132	24	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous	SYVN1	NM_032431.2,NM_172230.2	,	1,173,6321	CC,CT,TT		0.0116,3.9527,1.3472	,	336/617,336/618	64898229	175,12815	2201	4294	6495	SO:0001819	synonymous_variant	84447	exon11			CAGCGATGCACGA	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1008A>G	11.37:g.64898229T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_172230	0	0	12	32	20	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1																																																																																			A|0.000;C|0.015;T|0.985		0.697	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		C	64898229	T	C	64898229	2	2	18	1	0	0	0	0	0	0	0	1	15534	1451	51	4		4	SYVN1	11	64898229	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	379386	64898229	70108287	101	3587											
HTR3A	3359	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	113857492	113857492	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctcagtctggtgagaaaCccgccccctcccacctcctg	9	18	2	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr11:113857492C>A	ENST00000504030.2	+	7	1361				HTR3A_ENST00000299961.5_Intron|HTR3A_ENST00000355556.2_Missense_Mutation_p.P326T|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.P320T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGGTGAGAAACCCGCCCCCTC	0.592																																					p.P326T		.											.	HTR3A-90	0			c.C976A						.						115	102	106					11																	113857492		2201	4296	6497	SO:0001627	intron_variant	3359	exon7			GAGAAACCCGCCC	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.916+42C>A	11.37:g.113857492C>A		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	136	12	NM_213621	0	0	0	0	0	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	0.650	-0.810078	0.02798	.	.	ENSG00000166736	ENST00000355556;ENST00000506841	T;T	0.74947	-0.89;-0.87	4.08	-0.0931	0.13652	.	11.953300	0.00166	N	0.000000	T	0.51210	0.1661	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	9	.	.	.	2.4848	1.7299	0.02929	0.1213:0.298:0.3533:0.2275	.	326	G5E986	.	T	326;320	ENSP00000347754:P326T;ENSP00000424776:P320T	.	P	+	1	0	HTR3A	113362702	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.403000	0.07214	-0.118000	0.11851	0.561000	0.74099	CCC	.		0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		A	113857492	C	A	113857492	1	1	18	0	1	0	0	0	0	0	0	0	7471	507	18	3		3	HTR3A	11	113857492	Intron	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	48959263	113857492	21149024	102	3588											
GALNT8	26290	bcgsc.ca	37	chr12	4853806	4853806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcaacactggctgggAagctgccacagcagacgtgg	14	13	0	1	rs34776842	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:4853806A>G	ENST00000252318.2	+	4	1137	c.800A>G	c.(799-801)gAa>gGa	p.E267G		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	267	Catalytic subdomain A.		E -> G (in dbSNP:rs34776842). {ECO:0000269|PubMed:10767557}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACTGGCTGGGAAGCTGCCACA	0.488													A|||	98	0.0195687	8e-04	0.0375	5008	,	,		21968	0		0.0626	False		,,,				2504	0.0082				p.E267G	Colon(108;631 1558 7270 20097 39846)	.											.	GALNT8-230	0			c.A800G						.	A	GLY/GLU	60,4346		0,60,2143	62	49	53		800	2	0.9	12	dbSNP_126	53	637,7963		26,585,3689	yes	missense	GALNT8	NM_017417.1	98	26,645,5832	GG,GA,AA		7.407,1.3618,5.3591	benign	267/638	4853806	697,12309	2203	4300	6503	SO:0001583	missense	26290	exon4			GCTGGGAAGCTGC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.800A>G	12.37:g.4853806A>G	ENSP00000252318:p.Glu267Gly	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	140	5	NM_017417	0	0	0	0	0	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	261	0.11950549450549451	26	0.052845528455284556	46	0.1270718232044199	85	0.1486013986013986	104	0.13720316622691292	A	13.01	2.109331	0.37242	0.013618	0.07407	ENSG00000130035	ENST00000252318	T	0.63096	-0.02	4.5	2.0	0.26442	Glycosyl transferase, family 2 (1);	0.531713	0.19101	N	0.122697	T	0.00384	0.0012	L	0.48174	1.505	0.25632	N	0.986292	B	0.19200	0.034	B	0.21917	0.037	T	0.01056	-1.1466	9	.	.	.	.	9.513	0.39089	0.6569:0.3431:0.0:0.0	rs34776842;rs61753192	267	Q9NY28	GALT8_HUMAN	G	267	ENSP00000252318:E267G	.	E	+	2	0	GALNT8	4724067	0.012000	0.17670	0.886000	0.34754	0.996000	0.88848	0.521000	0.22893	0.224000	0.20940	0.397000	0.26171	GAA	A|0.927;G|0.073		0.488	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		G	4853806	A	G	4853806	3	3	18	1	0	0	0	0	1	0	0	0	6244	246	9	4	814	4	GALNT8	12	4853806	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		4853806	128998089	103	3589											
PRB3	5544	hgsc.bcm.edu;broad.mit.edu	37	chr12	11421070	11421070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctccttgtgggcgtcgtCcttctggctttcctggagga	12	12	1	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:11421070C>A	ENST00000279573.7	-	3	248	c.113G>T	c.(112-114)gGa>gTa	p.G38V	PRB3_ENST00000538488.1_Missense_Mutation_p.G38V|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Missense_Mutation_p.G38V			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	38	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGGCGTCGTCCTTCTGGCTT	0.537																																					p.G38V		.											.	PRB3-1	0			c.G113T						.						94	77	82					12																	11421070		2139	4241	6380	SO:0001583	missense	5544	exon3			CGTCGTCCTTCTG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.113G>T	12.37:g.11421070C>A	ENSP00000279573:p.Gly38Val	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	25	4	NM_006249	0	0	0	0	0	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	3.264	-0.150618	0.06585	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05025	3.51;3.51	0.548	-1.1	0.09872	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.41466	-0.9507	7	0.62326	D	0.03	.	.	.	.	.	38	Q04118	PRB3_HUMAN	V	38	ENSP00000371264:G38V;ENSP00000442626:G38V	ENSP00000279573:G38V	G	-	2	0	PRB3	11312337	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.063000	0.11655	-1.280000	0.02402	0.164000	0.16699	GGA	.		0.537	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		A	11421070	C	A	11421070	3	1	18	1	0	0	0	0	1	0	0	0	12486	855	30	3	824	3	PRB3	12	11421070	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	6567264	11421070	122430825	104	3590											
PRB4	5545	hgsc.bcm.edu	37	chr12	11461804	11461804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctccttgtgggcgtcgtCcttctggctttcctggagga	12	12	1	0	rs150367358	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:11461804C>A	ENST00000535904.1	-	3	146	c.113G>T	c.(112-114)gGa>gTa	p.G38V	PRB4_ENST00000279575.1_Missense_Mutation_p.G38V|PRB4_ENST00000445719.2_Missense_Mutation_p.G38V			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	38	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGGCGTCGTCCTTCTGGCTT	0.537										HNSCC(22;0.051)																											p.G38V		.											.	PRB4-91	0			c.G113T						.						188	201	196					12																	11461804		2197	4292	6489	SO:0001583	missense	5545	exon3			CGTCGTCCTTCTG		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.113G>T	12.37:g.11461804C>A	ENSP00000442834:p.Gly38Val	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_001261399	0	0	0	0	0	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	5.758	0.324295	0.10900	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05025	3.51;3.51;3.51	0.419	0.419	0.16438	.	.	.	.	.	T	0.13286	0.0322	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.17258	-1.0375	8	0.66056	D	0.02	.	.	.	.	.	38	E9PAL0	.	V	38	ENSP00000279575:G38V;ENSP00000442834:G38V;ENSP00000412740:G38V	ENSP00000279575:G38V	G	-	2	0	PRB4	11353071	0.002000	0.14202	0.016000	0.15963	0.100000	0.18952	0.570000	0.23653	0.444000	0.26612	0.195000	0.17529	GGA	C|0.999;T|0.001		0.537	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		A	11461804	C	A	11461804	3	1	18	1	0	0	0	0	1	0	0	0	12487	855	30	3	634	3	PRB4	12	11461804	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	40734	11461804	122390091	105	3591											
C12orf36	283422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	13526239	13526239	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtccactcttcagccTctgaatcctccaagcaattc	5	16	4	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:13526239T>A	ENST00000318426.2	-	3	533	c.316A>T	c.(316-318)Agg>Tgg	p.R106W	C12orf36_ENST00000527705.2_Missense_Mutation_p.R106W|C12orf36_ENST00000531049.1_5'Flank					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		CTCTTCAGCCTCTGAATCCTC	0.478																																					.		.											.	C12orf36-90	0			.						.						214	206	209					12																	13526239		2203	4300	6503	SO:0001583	missense	283422	.			TCAGCCTCTGAAT	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.316A>T	12.37:g.13526239T>A	ENSP00000443007:p.Arg106Trp	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	79	12	.	0	0	0	0	0		RNA	SNP	ENST00000318426.2	37		.	.	.	.	.	.	.	.	.	.	T	8.624	0.892103	0.17613	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.32272	1.46;1.46	4.05	1.94	0.25998	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	1	B	0.24618	0.107	B	0.24541	0.054	T	0.31251	-0.9950	8	0.87932	D	0	.	1.4275	0.02326	0.3441:0.344:0.0:0.312	.	106	Q495D7	CL036_HUMAN	W	106	ENSP00000443007:R106W;ENSP00000443346:R106W	ENSP00000443007:R106W	R	-	1	2	C12orf36	13417506	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.186000	0.16978	0.504000	0.28082	0.533000	0.62120	AGG	.		0.478	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		A	13526239	T	A	13526239	3	1	18	1	0	0	0	0	1	0	0	0	1688	1550	54	5	104	5	C12orf36	12	13526239	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	2064435	13526239	120325656	106	3592											
PLEKHA5	54477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	19499950	19499950	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagtagtcccacctcGtcctccacttcctcggtcct	8	16	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:19499950G>T	ENST00000299275.6	+	18	2406				PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R911L|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R734L|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R808L|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R727L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTCCCACCTCGTCCTCCACTT	0.453																																					p.R911L	Pancreas(196;329 2193 11246 14234 19524)	.											.	PLEKHA5-227	0			c.G2732T						.						70	62	64					12																	19499950		692	1591	2283	SO:0001627	intron_variant	54477	exon24			CACCTCGTCCTCC	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2400+1128G>T	12.37:g.19499950G>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	113	15	NM_001256470	0	0	0	0	0	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420981	0.83559	.	.	ENSG00000052126	ENST00000317589;ENST00000542828;ENST00000429027;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.2	5.2	0.72013	.	0.061398	0.64402	D	0.000003	T	0.26159	0.0638	.	.	.	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.993;0.993	D;D;P;P;D	0.79108	0.992;0.992;0.891;0.758;0.982	T	0.00455	-1.1729	9	0.66056	D	0.02	-11.9421	17.2909	0.87156	0.0:0.0:1.0:0.0	.	808;727;734;906;911	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3	.;.;.;.;.	L	808;907;911;734;727;700	ENSP00000325155:R808L;ENSP00000404296:R911L;ENSP00000400411:R734L;ENSP00000439837:R727L;ENSP00000440371:R700L	ENSP00000325155:R808L	R	+	2	0	PLEKHA5	19391217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.711000	0.74675	2.568000	0.86640	0.650000	0.86243	CGT	.		0.453	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		T	19499950	G	T	19499950	1	4	18	0	1	0	0	0	0	0	0	0	12098	1145	40	2		2	PLEKHA5	12	19499950	Intron	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	5973711	19499950	114351945	107	3593											
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29604304	29604304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcttactgtgtcttTcttcataaataattagaact	3	8	5	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:29604304T>C	ENST00000318184.5	-	22	2728	c.2729A>G	c.(2728-2730)gAa>gGa	p.E910G	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	910	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTGTGTCTTTCTTCATAAAT	0.428																																					p.E910G		.											.	OVCH1-210	0			c.A2729G						.						57	54	55					12																	29604304		1877	4101	5978	SO:0001583	missense	341350	exon22			TGTCTTTCTTCAT	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.2729A>G	12.37:g.29604304T>C	ENSP00000326708:p.Glu910Gly	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	78	23	NM_183378	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	T	14.91	2.675880	0.47886	.	.	ENSG00000187950	ENST00000318184	T	0.12039	2.72	2.89	2.89	0.33648	CUB (5);	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.21147	N	0.999777	D	0.76494	0.999	D	0.83275	0.996	T	0.17531	-1.0366	9	0.15499	T	0.54	.	7.6045	0.28095	0.0:0.0:0.0:1.0	.	910	Q7RTY7	OVCH1_HUMAN	G	910	ENSP00000326708:E910G	ENSP00000326708:E910G	E	-	2	0	OVCH1	29495571	0.773000	0.28580	0.831000	0.32960	0.214000	0.24535	0.925000	0.28791	1.565000	0.49641	0.374000	0.22700	GAA	.		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		C	29604304	T	C	29604304	3	2	18	1	0	0	0	0	1	0	0	0	11362	1783	62	4	703	4	OVCH1	12	29604304	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	10104354	29604304	104247591	108	3594											
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	52188154	52188154	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttccttcccttcctccccaGaacaaaatccaaggaatcgt	4	15	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:52188154G>T	ENST00000354534.6	+	26	4702		c.e26-1		SCN8A_ENST00000545061.1_Splice_Site	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						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)	TTCCTCCCCAGAACAAAATCC	0.443																																					.		.											.	SCN8A-29	0			c.4402-1G>T						.						109	104	105					12																	52188154		1948	4175	6123	SO:0001630	splice_region_variant	6334	exon25			TCCCCAGAACAAA	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.4525-1G>T	12.37:g.52188154G>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	97	18	NM_001177984	0	0	0	0	0	B9VWG8|O95788|Q9NYX2|Q9UPB2	Splice_Site	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.511633	0.85389	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN8A	50474421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.613000	0.98350	2.760000	0.94817	0.645000	0.84053	.	.		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	Intron	T	52188154	G	T	52188154	5	4	18	1	0	0	0	0	0	0	1	0	13969	956	33	3	4622	3	SCN8A	12	52188154	Splice_Site	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	22583850	52188154	81663741	109	3595											
MYBPC1	4604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	102043128	102043128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttgatcatagagggAgcaacaaaggctgatgctgc	11	9	2	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:102043128A>G	ENST00000550270.1	+	13	1212	c.1212A>G	c.(1210-1212)ggA>ggG	p.G404G	MYBPC1_ENST00000545503.2_Silent_p.G404G|MYBPC1_ENST00000536007.1_Silent_p.G385G|MYBPC1_ENST00000551300.1_Silent_p.G305G|MYBPC1_ENST00000547405.1_Silent_p.G378G|MYBPC1_ENST00000553190.1_Silent_p.G404G|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000441232.1_Silent_p.G404G|MYBPC1_ENST00000360610.2_Silent_p.G404G|MYBPC1_ENST00000361685.2_Silent_p.G429G|MYBPC1_ENST00000361466.2_Silent_p.G429G|MYBPC1_ENST00000392934.3_Silent_p.G391G|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.G404G|MYBPC1_ENST00000549145.1_Silent_p.G417G|MYBPC1_ENST00000541119.1_Silent_p.G392G|MYBPC1_ENST00000547509.1_Silent_p.G390G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	404	Ig-like C2-type 3.				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						TCATAGAGGGAGCAACAAAGG	0.383																																					p.G429G		.											.	MYBPC1-94	0			c.A1287G						.						177	161	167					12																	102043128		2203	4300	6503	SO:0001819	synonymous_variant	4604	exon15			AGAGGGAGCAACA		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.1212A>G	12.37:g.102043128A>G		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	126	22	NM_206819	0	0	0	0	0	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																			.		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			G	102043128	A	G	102043128	2	3	18	1	0	0	0	0	0	0	0	1	10049	291	11	4		4	MYBPC1	12	102043128	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	49854974	102043128	31808767	110	3596											
ATXN2	6311	hgsc.bcm.edu	37	chr12	112036797	112036797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	14	12	0	0	rs4098854	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000550104.1_Silent_p.Q174Q|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000608853.1_Silent_p.Q14Q|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1	1	1					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_002973	0	0	164	174	10	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036797	C	T	112036797	2	4	18	1	0	0	0	0	0	0	0	1	1212	796	28	3		3	ATXN2	12	112036797	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	9993669	112036797	21815098	111	3597											
C12orf51	283450	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	112690234	112690234	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagattcaagtacctgagcGcgaactgtgcaagcaaagcc	10	10	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:112690234G>T	ENST00000430131.2	-	22	3425	c.2280C>A	c.(2278-2280)cgC>cgA	p.R760R	HECTD4_ENST00000377560.5_Silent_p.R1010R|HECTD4_ENST00000550722.1_Silent_p.R1036R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	760					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)										GTACCTGAGCGCGAACTGTGC	0.463																																					p.R1048R		.											.	.	0			c.C3144A						.						153	143	146					12																	112690234		2203	4300	6503	SO:0001819	synonymous_variant	283450	exon23			CTGAGCGCGAACT	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.2280C>A	12.37:g.112690234G>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	62	5	NM_001109662	0	0	0	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																				.		0.463	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112690234	G	T	112690234	2	4	18	1	0	0	0	0	0	0	0	1	1701	1074	38	2		2	C12orf51	12	112690234	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	653437	112690234	21161661	112	3598											
SFRS8	6433	bcgsc.ca	37	chr12	132250712	132250712	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcccgggaaaagctGgcccaggcgtctaaggagtc	15	12	1	0	rs1051233	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr12:132250712G>C	ENST00000261674.4	+	13	2142	c.2001G>C	c.(1999-2001)ctG>ctC	p.L667L	SFSWAP_ENST00000541286.1_Silent_p.L667L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	667					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGGAAAAGCTGGCCCAGGCGT	0.443													G|||	508	0.101438	0.0091	0.2291	5008	,	,		18099	0		0.2366	False		,,,				2504	0.1012				p.L667L		.											.	SFSWAP-91	0			c.G2001C						.	G		206,4200	127.0+/-164.0	7,192,2004	104	119	114		2001	-9.3	0.5	12	dbSNP_86	114	2198,6402	375.7+/-337.9	275,1648,2377	no	coding-synonymous	SFSWAP	NM_004592.2		282,1840,4381	CC,CG,GG		25.5581,4.6754,18.4838		667/952	132250712	2404,10602	2203	4300	6503	SO:0001819	synonymous_variant	6433	exon13			AAAGCTGGCCCAG	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2001G>C	12.37:g.132250712G>C		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_001261411	0	0	47	47	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1	284	0.13003663003663005	8	0.016260162601626018	98	0.27071823204419887	0	0.0	178	0.23482849604221637	G	9.674	1.147491	0.21288	0.046754	0.255581	ENSG00000061936	ENST00000537164	.	.	.	5.73	-9.28	0.00656	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999998	.	.	.	.	.	.	T	0.30650	-0.9971	3	.	.	.	-17.2187	1.6034	0.02679	0.2261:0.1231:0.2084:0.4424	rs1051233;rs3191598;rs17678095;rs1051233	.	.	.	S	230	.	.	W	+	2	0	SFSWAP	130816665	0.879000	0.30193	0.539000	0.28077	0.987000	0.75469	-0.165000	0.09968	-1.785000	0.01271	0.591000	0.81541	TGG	G|0.840;C|0.160		0.443	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		C	132250712	G	C	132250712	2	2	18	1	0	0	0	0	0	0	0	1	14228	1335	47	3		3	SFRS8	12	132250712	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	19560478	132250712	1601183	113	3599											
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	39452353	39452353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcattgagaaggtgttTctatgcactggagctgatgg	14	6	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr13:39452353T>C	ENST00000280481.7	+	22	8970	c.8754T>C	c.(8752-8754)ttT>ttC	p.F2918F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2918					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)		AGAAGGTGTTTCTATGCACTG	0.418																																					p.F2918F		.											.	FREM2-100	0			c.T8754C						.						213	181	192					13																	39452353		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon22			GGTGTTTCTATGC	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.8754T>C	13.37:g.39452353T>C		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	133	20	NM_207361	0	0	1	1	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39452353	T	C	39452353	2	2	18	1	0	0	0	0	0	0	0	1	6069	1780	62	4		4	FREM2	13	39452353	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		39452353	75717525	114	3600											
PCDH8	5100	hgsc.bcm.edu	37	chr13	53420344	53420344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtgtcccattgcagcAccgacccggacaccccgagc	12	18	0	0	rs5030685	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr13:53420344A>G	ENST00000377942.3	-	1	2431	c.2228T>C	c.(2227-2229)gTg>gCg	p.V743A	PCDH8_ENST00000338862.4_Missense_Mutation_p.V743A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	743			V -> A (in dbSNP:rs5030685). {ECO:0000269|PubMed:12884975}.		cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCATTGCAGCACCGACCCGGA	0.716													G|||	269	0.0537141	0.0749	0.085	5008	,	,		10527	0.0109		0.0547	False		,,,				2504	0.046				p.V743A	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.T2228C						.	G	ALA/VAL,ALA/VAL	273,3977		7,259,1859	19	26	24		2228,2228	3.6	0.9	13	dbSNP_113	24	454,7878		12,430,3724	yes	missense,missense	PCDH8	NM_002590.3,NM_032949.2	64,64	19,689,5583	GG,GA,AA		5.4489,6.4235,5.7781	benign,benign	743/1071,743/974	53420344	727,11855	2125	4166	6291	SO:0001583	missense	5100	exon1			TGCAGCACCGACC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2228T>C	13.37:g.53420344A>G	ENSP00000367177:p.Val743Ala	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	16	13	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	105	0.04807692307692308	30	0.06097560975609756	34	0.09392265193370165	1	0.0017482517482517483	40	0.052770448548812667	G	7.029	0.560314	0.13498	0.064235	0.054489	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.49139	0.83;0.79	3.59	3.59	0.41128	.	0.672756	0.12209	N	0.489532	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08659	-1.0711	10	0.08837	T	0.75	.	9.238	0.37477	0.1065:0.0:0.8935:0.0	rs5030685;rs5030685	743;743	O95206-2;O95206	.;PCDH8_HUMAN	A	743;743;269;586	ENSP00000367177:V743A;ENSP00000341350:V743A	ENSP00000341350:V743A	V	-	2	0	PCDH8	52318345	0.024000	0.19004	0.860000	0.33809	0.341000	0.28922	0.000000	0.12993	1.114000	0.41781	-0.124000	0.14976	GTG	A|0.947;G|0.053		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		G	53420344	A	G	53420344	3	3	18	1	0	0	0	0	1	0	0	0	11556	159	6	4	996	4	PCDH8	13	53420344	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	13967991	53420344	61749534	115	3601											
ZNF219	51222	hgsc.bcm.edu	37	chr14	21560706	21560706	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcacgttcgggctcCggctccggctccggctgggg	16	15	1	0	rs370417468|rs1065496	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:21560706C>G	ENST00000360947.3	-	3	1161	c.750G>C	c.(748-750)ccG>ccC	p.P250P	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P250P|ZNF219_ENST00000421093.2_Silent_p.P250P|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	250					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		gttcgggctccggctccggct	0.726											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	448	0.0894569	0.1097	0.049	5008	,	,		11470	0.0942		0.0785	False		,,,				2504	0.0971				p.P250P		.											.	ZNF219-90	0			c.G750C						.	C	,,	331,3629		14,303,1663	6	7	7		750,750,750	-8.1	0.1	14	dbSNP_86	7	434,7432		9,416,3508	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF219	NM_001101672.1,NM_001102454.1,NM_016423.2	,,	23,719,5171	GG,GC,CC		5.5174,8.3586,6.4688	,,	250/723,250/723,250/723	21560706	765,11061	1980	3933	5913	SO:0001819	synonymous_variant	51222	exon3			GGGCTCCGGCTCC	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.750G>C	14.37:g.21560706C>G		Somatic	3	0	749	WXS	Illumina GAIIx	Phase_I	33	16	NM_001102454	0	0	33	74	41	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	CCDS9568.1																																																																																			C|0.100;G|0.900		0.726	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21560706	C	G	21560706	2	3	18	1	0	0	0	0	0	0	0	1	17821	639	23	2		2	ZNF219	14	21560706	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10		21560706	85788834	116	3602											
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_018139	0	0	0	1	1	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	18	1	0	0	0	0	0	0	0	1	1741	639	23	2		2	C14orf104	14	50100683	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	28539977	50100683	57248857	117	3603											
TBPL2	387332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	55903342	55903342	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggtgtcatgggagttatgGatgccagagacaaggagtcg	16	5	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:55903342G>T	ENST00000247219.5	-	2	615	c.545C>A	c.(544-546)tCc>tAc	p.S182Y		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGGAGTTATGGATGCCAGAGA	0.438																																					p.S182Y		.											.	TBPL2-90	0			c.C545A						.						129	127	128					14																	55903342		2203	4300	6503	SO:0001583	missense	387332	exon2			GTTATGGATGCCA	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.545C>A	14.37:g.55903342G>T	ENSP00000247219:p.Ser182Tyr	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	342	40	NM_199047	0	0	0	0	0		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620869	0.66787	.	.	ENSG00000182521	ENST00000247219	T	0.48836	0.8	5.82	5.82	0.92795	.	0.172150	0.52532	D	0.000077	T	0.63988	0.2558	L	0.60455	1.87	0.19300	N	0.99998	D	0.65815	0.995	P	0.59703	0.862	T	0.59386	-0.7464	10	0.87932	D	0	-4.7274	19.0861	0.93203	0.0:0.0:1.0:0.0	.	182	Q6SJ96	TBPL2_HUMAN	Y	182	ENSP00000247219:S182Y	ENSP00000247219:S182Y	S	-	2	0	TBPL2	54973095	1.000000	0.71417	0.044000	0.18714	0.399000	0.30720	8.799000	0.91895	2.761000	0.94854	0.591000	0.81541	TCC	.		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		T	55903342	G	T	55903342	3	4	18	1	0	0	0	0	1	0	0	0	15693	1174	41	3	606	3	TBPL2	14	55903342	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	5802659	55903342	51446198	118	3604											
TGFB3	7043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76447102	76447102	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttgctcaagatctgTcccctaatggcttccaccct	7	15	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:76447102T>G	ENST00000238682.3	-	1	432	c.135A>C	c.(133-135)ggA>ggC	p.G45G	TGFB3_ENST00000556674.1_5'Flank|TGFB3_ENST00000556285.1_Silent_p.G45G	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	45					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TCAAGATCTGTCCCCTAATGG	0.592																																					p.G45G		.											.	TGFB3-524	0			c.A135C						.						155	149	151					14																	76447102		2203	4300	6503	SO:0001819	synonymous_variant	7043	exon1			GATCTGTCCCCTA		CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.135A>C	14.37:g.76447102T>G		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	339	62	NM_003239	0	0	6	7	1	Q8WV88	Silent	SNP	ENST00000238682.3	37	CCDS9846.1																																																																																			.		0.592	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1	NM_003239		G	76447102	T	G	76447102	2	3	18	1	0	0	0	0	0	0	0	1	15866	1654	58	5		5	TGFB3	14	76447102	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	20543760	76447102	30902438	119	3605											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	81046735	81046735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctgcagagatcccatttCttcatcttttctttgggtct	6	11	5	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:81046735C>T	ENST00000555265.1	-	20	3214	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	CEP128_ENST00000281129.3_Missense_Mutation_p.E947K			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	947						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GATCCCATTTCTTCATCTTTT	0.323																																					p.E947K		.											.	CEP128-91	0			c.G2839A						.						133	116	122					14																	81046735		2202	4300	6502	SO:0001583	missense	145508	exon19			CCATTTCTTCATC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2839G>A	14.37:g.81046735C>T	ENSP00000451162:p.Glu947Lys	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	23	5	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.234486|4.234486	0.79800|0.79800	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619|ENST00000556061	T;T|.	0.34859|.	1.34;1.34|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.165233|.	0.40144|.	N|.	0.001175|.	T|T	0.68439|0.68439	0.3001|0.3001	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.77557|.	0.99|.	T|T	0.63875|0.63875	-0.6538|-0.6538	10|5	0.27785|.	T|.	0.31|.	.|.	15.7506|15.7506	0.77983|0.77983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	947|.	Q6ZU80|.	CE128_HUMAN|.	K|K	947|12	ENSP00000281129:E947K;ENSP00000451162:E947K|.	ENSP00000281129:E947K|.	E|R	-|-	1|2	0|0	CEP128|CEP128	80116488|80116488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.027000|4.027000	0.57239|0.57239	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAA|AGA	.		0.323	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		T	81046735	C	T	81046735	3	4	18	1	0	0	0	0	1	0	0	0	1754	922	32	3	469	3	C14orf145	14	81046735	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	4599633	81046735	26302805	120	3606											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001823	0	0	73	147	74	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	18	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	22941445	103988180	3361360	121	3607											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105415287	105415287	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgatggacttgcctggGgcagacaccccaaacgacgg	13	14	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr14:105415287G>C	ENST00000333244.5	-	7	6620	c.6501C>G	c.(6499-6501)gcC>gcG	p.A2167A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2167						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)			ACTTGCCTGGGGCAGACACCC	0.587																																					p.A2167A		.											.	AHNAK2-47	0			c.C6501G						.						203	137	159					14																	105415287		1941	3817	5758	SO:0001819	synonymous_variant	113146	exon7			GCCTGGGGCAGAC	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.6501C>G	14.37:g.105415287G>C		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	235	96	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105415287	G	C	105415287	2	2	18	1	0	0	0	0	0	0	0	1	415	1219	43	3		3	AHNAK2	14	105415287	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	1427107	105415287	1934253	122	3608											
VPS13C	54832	bcgsc.ca	37	chr15	62243197	62243197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcacattagaagagttaaTaatgtgaagaggttcccctt	9	6	1	4	rs11629598	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr15:62243197T>C	ENST00000261517.5	-	40	4556	c.4483A>G	c.(4483-4485)Att>Gtt	p.I1495V	VPS13C_ENST00000395896.4_Missense_Mutation_p.I1495V|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1452V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1452V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.I1495V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGAGTTAATAATGTGAAGA	0.323													T|||	233	0.0465256	0.0159	0.0447	5008	,	,		15840	0.0387		0.0746	False		,,,				2504	0.0685				p.I1495V		.											.	VPS13C-92	1	Substitution - Missense(1)	stomach(1)	c.A4483G						.	T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	115,4283	84.4+/-122.9	0,115,2084	42	43	43		4483,4354,4354,4483	4.4	1	15	dbSNP_120	43	691,7897	165.8+/-217.9	31,629,3634	yes	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	29,29,29,29	31,744,5718	CC,CT,TT		8.0461,2.6148,6.2067	benign,benign,benign,benign	1495/3629,1452/3711,1452/3586,1495/3754	62243197	806,12180	2199	4294	6493	SO:0001583	missense	54832	exon40			AGTTAATAATGTG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4483A>G	15.37:g.62243197T>C	ENSP00000261517:p.Ile1495Val	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	92	6	NM_020821	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	98	0.04487179487179487	6	0.012195121951219513	17	0.04696132596685083	27	0.0472027972027972	48	0.0633245382585752	T	10.81	1.454534	0.26161	0.026148	0.080461	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.20200	2.09;2.09;2.09	5.5	4.38	0.52667	.	0.062159	0.64402	N	0.000006	T	0.00695	0.0023	L	0.39898	1.24	0.44702	D	0.997698	B;B;B;B	0.17852	0.01;0.004;0.024;0.008	B;B;B;B	0.23150	0.028;0.028;0.044;0.009	T	0.25813	-1.0121	10	0.20046	T	0.44	.	3.9809	0.09495	0.0:0.1266:0.2103:0.663	rs11629598;rs52793992;rs61379117;rs11629598	1452;1495;1452;1495	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1452;1495;1495;1495	ENSP00000249837:I1452V;ENSP00000261517:I1495V;ENSP00000379233:I1495V	ENSP00000249837:I1452V	I	-	1	0	VPS13C	60030489	0.961000	0.32948	0.974000	0.42286	0.896000	0.52359	1.033000	0.30191	0.942000	0.37525	0.477000	0.44152	ATT	T|0.946;C|0.054		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62243197	T	C	62243197	3	2	18	1	0	0	0	0	1	0	0	0	17240	1406	49	4	6990	4	VPS13C	15	62243197	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		62243197	40288195	123	3609											
MTFMT	123263	hgsc.bcm.edu	37	chr15	65321780	65321780	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcgcctcgcgggcgaActggtccgtgccgaagaaga	15	14	0	2	rs188718836	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr15:65321780A>T	ENST00000220058.4	-	1	185	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	58						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCGCGGGCGAACTGGTCCGTG	0.761													A|||	27	0.00539137	8e-04	0.0058	5008	,	,		9222	0		0.0119	False		,,,				2504	0.0102				p.F58I		.											.	MTFMT-24	0			c.T172A						.	A	ILE/PHE	5,2325		0,5,1160	2	3	2		172	3.6	0.5	15		2	49,5611		0,49,2781	yes	missense	MTFMT	NM_139242.3	21	0,54,3941	TT,TA,AA		0.8657,0.2146,0.6758	probably-damaging	58/390	65321780	54,7936	1165	2830	3995	SO:0001583	missense	123263	exon1			GGGCGAACTGGTC	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.172T>A	15.37:g.65321780A>T	ENSP00000220058:p.Phe58Ile	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	11	NM_139242	0	0	5	6	1	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	A	20.5	3.997572	0.74818	0.002146	0.008657	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.77877	-1.13;-1.13	4.83	3.62	0.41486	Formyl transferase, N-terminal (2);	0.049940	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66378	2.025	0.42564	D	0.993154	D	0.57899	0.981	D	0.63033	0.91	T	0.82299	-0.0526	10	0.87932	D	0	-19.2998	8.2755	0.31871	0.8231:0.0:0.0:0.1769	.	58	Q96DP5	FMT_HUMAN	I	58	ENSP00000220058:F58I;ENSP00000443754:F58I	ENSP00000220058:F58I	F	-	1	0	MTFMT	63108833	0.988000	0.35896	0.512000	0.27736	0.150000	0.21749	3.146000	0.50631	1.802000	0.52723	0.528000	0.53228	TTC	A|0.995;T|0.005		0.761	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		T	65321780	A	T	65321780	3	4	18	1	0	0	0	0	1	0	0	0	9962	43	2	5	1033	5	MTFMT	15	65321780	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	3078583	65321780	37209612	124	3610											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	18	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	47615	65369395	37161997	125	3611											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369531	65369531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgttccacagtgccgcGctcttcatctgcgacggcga	12	14	3	0	rs2946642	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2	2	2		378	-0.2	1	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369531	G	T	65369531	2	4	18	1	0	0	0	0	0	0	0	1	8019	1074	38	2		2	KBTBD13	15	65369531	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	136	65369531	37161861	126	3612											
CHRNA5	1138	broad.mit.edu;bcgsc.ca	37	chr15	78882715	78882715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttgtgacactgtcaAttatggtaaccgtcttcgct	8	8	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr15:78882715A>G	ENST00000299565.5	+	5	1182	c.982A>G	c.(982-984)Att>Gtt	p.I328V	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)	328					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)	GACACTGTCAATTATGGTAAC	0.403																																					p.I328V		.											.	CHRNA5-516	0			c.A982G						.						139	113	122					15																	78882715		2196	4293	6489	SO:0001583	missense	1138	exon5			CTGTCAATTATGG		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.982A>G	15.37:g.78882715A>G	ENSP00000299565:p.Ile328Val	Somatic	122	2		WXS	Illumina GAIIx	Phase_I	175	49	NM_000745	0	0	1	2	1	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040426	0.35989	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.86497	-2.13	5.09	5.09	0.68999	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	N	0.17723	0.515	0.80722	D	1	P	0.50066	0.931	D	0.70716	0.97	D	0.87324	0.2320	10	0.33141	T	0.24	.	15.1699	0.72862	1.0:0.0:0.0:0.0	.	328	P30532	ACHA5_HUMAN	V	328;279	ENSP00000299565:I328V	ENSP00000299565:I328V	I	+	1	0	CHRNA5	76669770	1.000000	0.71417	0.177000	0.23020	0.684000	0.39900	9.279000	0.95777	2.044000	0.60594	0.460000	0.39030	ATT	.		0.403	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			G	78882715	A	G	78882715	3	3	18	1	0	0	0	0	1	0	0	0	3393	101	4	4	1000	4	CHRNA5	15	78882715	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	13513184	78882715	23648677	127	3613											
SOLH	6650	hgsc.bcm.edu	37	chr16	597408	597408	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcccggaagtggtggccccGgccggcttccacgtcgtgcc	15	16	0	0	rs572003179	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr16:597408G>C	ENST00000219611.2	+	4	933	c.570G>C	c.(568-570)ccG>ccC	p.P190P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	190					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGTGGCCCCGGCCGGCTTCC	0.756													g|||	4	0.000798722	0	0	5008	,	,		11853	0.001		0.003	False		,,,				2504	0				p.P190P		.											.	SOLH-523	0			c.G570C						.						3	5	5					16																	597408		1849	3782	5631	SO:0001819	synonymous_variant	6650	exon4			GGCCCCGGCCGGC	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.570G>C	16.37:g.597408G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	7	NM_005632	0	0	8	13	5	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			.		0.756	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		C	597408	G	C	597408	2	2	18	1	0	0	0	0	0	0	0	1	14970	1103	39	2		2	SOLH	16	597408	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10		597408	89757345	128	3614											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_178167	0	0	0	2	2	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	18	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	1462266	2059674	88295079	129	3615											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	1	1	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	18	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	55503130	57562804	32791949	130	3616											
KCNG4	93107	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	84256305	84256305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgcacggtgagccccaGcgtctgcagccccagcgagt	14	16	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr16:84256305G>A	ENST00000308251.4	-	3	1146	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	360					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTGAGCCCCAGCGTCTGCAGC	0.662																																					p.L360L		.											.	KCNG4-93	0			c.C1078T						.						17	17	17					16																	84256305		2197	4298	6495	SO:0001819	synonymous_variant	93107	exon3			GCCCCAGCGTCTG	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1078C>T	16.37:g.84256305G>A		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	377	97	NM_172347	0	0	0	0	0	Q96H24	Silent	SNP	ENST00000308251.4	37	CCDS10945.1																																																																																			.		0.662	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		A	84256305	G	A	84256305	2	1	18	1	0	0	0	0	0	0	0	1	8057	962	34	3		3	KCNG4	16	84256305	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	26693501	84256305	6098448	131	3617											
USP10	9100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	84806251	84806251	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtgggtgccagaagcttatCaaaaatattgaatatcctgt	10	6	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr16:84806251C>G	ENST00000219473.7	+	12	2216	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	USP10_ENST00000570191.1_Missense_Mutation_p.I705M	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	701	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGAAGCTTATCAAAAATATTG	0.448																																					p.I705M		.											.	USP10-636	0			c.C2115G						.						116	111	112					16																	84806251		1876	4112	5988	SO:0001583	missense	9100	exon13			GCTTATCAAAAAT	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2103C>G	16.37:g.84806251C>G	ENSP00000219473:p.Ile701Met	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	124	13	NM_001272075	0	0	18	27	9	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	7.316	0.615901	0.14129	.	.	ENSG00000103194	ENST00000219473	T	0.31247	1.5	4.38	2.34	0.29019	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.513321	0.21006	N	0.081771	T	0.21267	0.0512	N	0.22421	0.69	0.40896	D	0.984116	B;B	0.24132	0.098;0.04	B;B	0.26517	0.047;0.07	T	0.05273	-1.0895	10	0.36615	T	0.2	-2.0474	12.2868	0.54797	0.3083:0.6917:0.0:0.0	.	705;701	Q14694-3;Q14694	.;UBP10_HUMAN	M	701	ENSP00000219473:I701M	ENSP00000219473:I701M	I	+	3	3	USP10	83363752	0.755000	0.28372	0.056000	0.19401	0.704000	0.40688	0.096000	0.15147	0.376000	0.24707	0.563000	0.77884	ATC	.		0.448	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			G	84806251	C	G	84806251	3	3	18	1	0	0	0	0	1	0	0	0	17090	816	29	3	2149	3	USP10	16	84806251	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	549946	84806251	5548502	132	3618											
TRPV3	162514	bcgsc.ca	37	chr17	3446885	3446885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgcttcttcagccgccTctttttcctcctctgctctt	6	16	5	0	rs322937	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:3446885T>C	ENST00000576742.1	-	5	670	c.349A>G	c.(349-351)Agg>Ggg	p.R117G	TRPV3_ENST00000301365.4_Missense_Mutation_p.R117G|TRPV3_ENST00000572519.1_Missense_Mutation_p.R117G	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	117			R -> G (in dbSNP:rs322937). {ECO:0000269|PubMed:12077606}.		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TTCAGCCGCCTCTTTTTCCTC	0.547													T|||	1256	0.250799	0.115	0.2147	5008	,	,		19720	0.247		0.3996	False		,,,				2504	0.3108				p.R117G		.											.	TRPV3-94	0			c.A349G						.	T	GLY/ARG	731,3675	301.3+/-286.8	72,587,1544	115	111	112		349	2.8	1	17	dbSNP_79	112	3431,5169	505.5+/-376.4	670,2091,1539	yes	missense	TRPV3	NM_145068.2	125	742,2678,3083	CC,CT,TT		39.8953,16.591,32.0006	benign	117/791	3446885	4162,8844	2203	4300	6503	SO:0001583	missense	162514	exon5			GCCGCCTCTTTTT	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.349A>G	17.37:g.3446885T>C	ENSP00000461518:p.Arg117Gly	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	81	7	NM_001258205	0	0	0	0	0	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	571	0.26144688644688646	43	0.08739837398373984	89	0.24585635359116023	136	0.23776223776223776	303	0.3997361477572559	T	8.019	0.759106	0.15846	0.16591	0.398953	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87491	-2.26	5.12	2.83	0.33086	.	0.384610	0.26300	N	0.025163	T	0.00012	0.0000	L	0.45352	1.415	0.48288	P	3.769999999999607E-4	B;B;B;B	0.14012	0.007;0.007;0.009;0.007	B;B;B;B	0.19391	0.015;0.015;0.025;0.015	T	0.10894	-1.0610	9	0.39692	T	0.17	-6.117	10.6601	0.45698	0.0:0.0:0.3068:0.6932	rs322937;rs59567507;rs322937	101;117;117;117	E7EV24;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;TRPV3_HUMAN;.	G	117;117;101	ENSP00000301365:R117G	ENSP00000301365:R117G	R	-	1	2	TRPV3	3393635	0.993000	0.37304	0.990000	0.47175	0.079000	0.17450	2.032000	0.41127	0.326000	0.23384	-0.429000	0.05907	AGG	T|0.714;C|0.286		0.547	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		C	3446885	T	C	3446885	3	2	18	1	0	0	0	0	1	0	0	0	16645	1550	54	4	2079	4	TRPV3	17	3446885	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		3446885	77748325	133	3619											
SPNS2	124976	ucsc.edu	37	chr17	4436657	4436657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactggtgtgtgccgtggGcatgctgggctctgccatct	14	13	2	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:4436657G>T	ENST00000329078.3	+	8	1418	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	403					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGTGCCGTGGGCATGCTGGGC	0.647																																					p.G403V		.											.	SPNS2-68	0			c.G1208T						.						45	45	45					17																	4436657		1568	3582	5150	SO:0001583	missense	124976	exon8			CCGTGGGCATGCT	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1208G>T	17.37:g.4436657G>T	ENSP00000333292:p.Gly403Val	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_001124758	0	0	1	1	0	B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.921178	0.92249	.	.	ENSG00000183018	ENST00000329078	T	0.63744	-0.06	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049998	0.85682	D	0.000000	T	0.79173	0.4401	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82760	-0.0298	10	0.87932	D	0	.	16.2505	0.82481	0.0:0.0:1.0:0.0	.	403	Q8IVW8	SPNS2_HUMAN	V	403	ENSP00000333292:G403V	ENSP00000333292:G403V	G	+	2	0	SPNS2	4383406	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.866000	0.99616	2.161000	0.67846	0.486000	0.48141	GGC	.		0.647	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			T	4436657	G	T	4436657	3	4	18	1	0	0	0	0	1	0	0	0	15122	1203	42	3	1238	3	SPNS2	17	4436657	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	989772	4436657	76758553	134	3620											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7574011	7574012	+	Frame_Shift_Ins	INS	-	-	CGAAG													attcagctctcggaacatctINScgaagcgctcacgcccacgg					rs17882252	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:7574011_7574012insCGAAG	ENST00000269305.4	-	10	1204_1205	c.1015_1016insCTTCG	c.(1015-1017)gagfs	p.E339fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.E339fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	TCGGAACATCTCGAAGCGCTCA	0.54		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.E339fs	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(1)	c.1016_1017insCTTCG	GRCh37	CM984588	TP53	M	rs17882252	.																																			SO:0001589	frameshift_variant	7157	exon10	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;	AACATCTCGAAGC	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.1011_1015dupCTTCG	17.37:g.7574012_7574016dupCGAAG	ENSP00000269305:p.Glu339fs	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	118	25	NM_001126112	0	0	0	0	0	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																																																																																			.		0.54	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		CGAAG	7574012	-	CGAAG	7574011	7	5	18	1	0	1	1	0	0	0	0	0	16429	1551	54	0	173	0	TP53	17	7574011	Frame_Shift_Ins	INS	-	TCGA-OR-A5JP-01A-11D-A29I-10	3137354	7574011	73621199	135	3621											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29664421	29664421	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttgagactcagtctgacaGagttctcattacccaaattt	6	9	3	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:29664421G>T	ENST00000358273.4	+	43	6846	c.6463G>T	c.(6463-6465)Gag>Tag	p.E2155*	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2134*|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2155					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGTCTGACAGAGTTCTCATT	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.E2155X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.G6463T						.						96	84	88					17																	29664421		2203	4300	6503	SO:0001587	stop_gained	4763	exon43	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CTGACAGAGTTCT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6463G>T	17.37:g.29664421G>T	ENSP00000351015:p.Glu2155*	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	47	32	NM_001042492	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	49	15.696311	0.99842	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.8683	0.96840	0.0:0.0:1.0:0.0	.	.	.	.	X	2155;2134;1800	.	ENSP00000348498:E2134X	E	+	1	0	NF1	26688547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.274000	0.95731	2.753000	0.94483	0.655000	0.94253	GAG	.		0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29664421	G	T	29664421	4	4	18	1	0	0	0	0	0	1	0	0	10395	943	33	3	6694	3	NF1	17	29664421	Nonsense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	22090410	29664421	51530789	136	3622											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													ggtcctgcagcaggtggtctINSggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192				p.Q82delinsRPSCCQ		.											.	KRTAP4-5-90	0			c.245_246insGCCCCAGCTGCTGCC						.																																			SO:0001652	inframe_insertion	85289	exon1			GTGGTCTGGCAGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	94	66	NM_033188	0	0	0	0	0		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GGCAGCAGCTGGGGC	39305776	-	GGCAGCAGCTGGGGC	39305775	7	5	18	1	0	1	1	0	0	0	0	0	8582	1580	55	0	304	0	KRTAP4-5	17	39305775	In_Frame_Ins	INS	-	TCGA-OR-A5JP-01A-11D-A29I-10	9641354	39305775	41889435	137	3623											
GPATCH8	23131	broad.mit.edu;bcgsc.ca	37	chr17	42477935	42477940	+	In_Frame_Del	DEL	CTGAAA	CTGAAA	-													ggactcacacatttgggtctCtgaaaccttctgactatgac							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:42477935_42477940delCTGAAA	ENST00000591680.1	-	8	1535_1540	c.1505_1510delTTTCAG	c.(1504-1512)gtttcagag>gag	p.VS502del	GPATCH8_ENST00000434000.1_In_Frame_Del_p.VS424del	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	502							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTTGGGTCTCTGAAACCTTCTGACT	0.49											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.502_504del		.											.	GPATCH8-94	0			c.1505_1510del						.																																			SO:0001651	inframe_deletion	23131	exon8			GGGTCTCTGAAAC	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1505_1510delTTTCAG	17.37:g.42477935_42477940delCTGAAA	ENSP00000467556:p.Val502_Ser503del	Somatic	83	0	909	WXS	Illumina GAIIx	Phase_I	55	7	NM_001002909	0	0	0	0	0	B9EGP9|O60300|Q8TB99	In_Frame_Del	DEL	ENST00000591680.1	37	CCDS32666.1																																																																																			.		0.49	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		-	42477940	CTGAAA	-	42477935	7	5	18	1	0	1	0	1	0	0	0	0	6620	922	32	0	3002	0	GPATCH8	17	42477935	In_Frame_Del	DEL	CTGAAA	TCGA-OR-A5JP-01A-11D-A29I-10	3172160	42477935	38717275	138	3624											
ITGA3	3675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	48165662	48165662	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggagatgaagagccAgccgtcagagacagagaggc	17	8	1	5			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:48165662A>C	ENST00000320031.8	+	25	3449	c.3119A>C	c.(3118-3120)cAg>cCg	p.Q1040P	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1040					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATGAAGAGCCAGCCGTCAGAG	0.692																																					p.Q1040P		.											.	ITGA3-229	0			c.A3119C						.						13	16	15					17																	48165662		2183	4269	6452	SO:0001583	missense	3675	exon25			AGAGCCAGCCGTC	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3119A>C	17.37:g.48165662A>C	ENSP00000315190:p.Gln1040Pro	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	166	18	NM_002204	0	0	10	12	2	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095594	0.36952	.	.	ENSG00000005884	ENST00000538917;ENST00000320031	T	0.22743	1.94	5.1	5.1	0.69264	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.16512	-1.0400	9	0.23302	T	0.38	.	12.3934	0.55370	1.0:0.0:0.0:0.0	.	1040	P26006	ITA3_HUMAN	P	1026;1040	ENSP00000315190:Q1040P	ENSP00000315190:Q1040P	Q	+	2	0	ITGA3	45520661	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.551000	0.90678	1.932000	0.55993	0.379000	0.24179	CAG	.		0.692	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		C	48165662	A	C	48165662	3	2	18	1	0	0	0	0	1	0	0	0	7904	188	7	5	3217	5	ITGA3	17	48165662	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	5687727	48165662	33029548	139	3625											
ANKRD40	91369	broad.mit.edu	37	chr17	48774315	48774315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccttccttaacagagTattgggtaactttctgatct	6	9	3	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:48774315T>C	ENST00000285243.6	-	4	1215	c.946A>G	c.(946-948)Act>Gct	p.T316A	Y_RNA_ENST00000364470.1_RNA|RP11-294J22.6_ENST00000574246.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	316										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTTAACAGAGTATTGGGTAAC	0.448																																					p.T316A		.											.	ANKRD40-90	0			c.A946G						.						129	125	127					17																	48774315		2203	4300	6503	SO:0001583	missense	91369	exon4			ACAGAGTATTGGG	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.946A>G	17.37:g.48774315T>C	ENSP00000285243:p.Thr316Ala	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	108	5	NM_052855	0	0	16	16	0	Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632875	0.87660	.	.	ENSG00000154945	ENST00000285243	T	0.36520	1.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.63625	-0.6595	10	0.72032	D	0.01	-22.2218	15.9416	0.79758	0.0:0.0:0.0:1.0	.	316	Q6AI12	ANR40_HUMAN	A	316	ENSP00000285243:T316A	ENSP00000285243:T316A	T	-	1	0	ANKRD40	46129314	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.651000	0.83577	2.225000	0.72522	0.533000	0.62120	ACT	.		0.448	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		C	48774315	T	C	48774315	3	2	18	1	0	0	0	0	1	0	0	0	669	1638	57	4	168	4	ANKRD40	17	48774315	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	608653	48774315	32420895	140	3626											
TMEM104	54868	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72786401	72786401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcatccgggacaactaCgagcgggcagagaagcggcc	14	12	1	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:72786401C>T	ENST00000335464.5	+	5	474	c.312C>T	c.(310-312)taC>taT	p.Y104Y	TMEM104_ENST00000417024.2_Silent_p.Y117Y|TMEM104_ENST00000582773.1_Silent_p.Y104Y|TMEM104_ENST00000582330.1_Silent_p.Y104Y	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	104						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGACAACTACGAGCGGGCAG	0.607																																					p.Y104Y		.											.	TMEM104-90	0			c.C312T						.						116	104	108					17																	72786401		2203	4300	6503	SO:0001819	synonymous_variant	54868	exon5			CAACTACGAGCGG	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.312C>T	17.37:g.72786401C>T		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	215	44	NM_017728	0	0	34	44	10	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	CCDS32723.1																																																																																			.		0.607	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		T	72786401	C	T	72786401	2	4	18	1	0	0	0	0	0	0	0	1	16065	547	19	1		1	TMEM104	17	72786401	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	24012086	72786401	8408809	141	3627											
FDXR	2232	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72862659	72862659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcacagcggccagaaTgggccgtctgggtaaatgtg	16	8	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:72862659T>C	ENST00000293195.5	-	4	380	c.302A>G	c.(301-303)cAt>cGt	p.H101R	FDXR_ENST00000413947.2_Missense_Mutation_p.H132R|FDXR_ENST00000581530.1_Missense_Mutation_p.H101R|FDXR_ENST00000582944.1_Missense_Mutation_p.H93R|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000583917.1_Missense_Mutation_p.H102R|FDXR_ENST00000442102.2_Missense_Mutation_p.H144R|FDXR_ENST00000455107.2_Missense_Mutation_p.H57R|FDXR_ENST00000544854.1_Missense_Mutation_p.H49R|FDXR_ENST00000581969.1_5'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	101					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)	GCGGCCAGAATGGGCCGTCTG	0.637																																					p.H144R		.											.	FDXR-226	0			c.A431G						.						42	34	37					17																	72862659		2203	4300	6503	SO:0001583	missense	2232	exon4			CCAGAATGGGCCG	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.302A>G	17.37:g.72862659T>C	ENSP00000293195:p.His101Arg	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	419	90	NM_001258012	0	1	606	846	239	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816171	0.32145	.	.	ENSG00000161513	ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.05	-5.12	0.02893	.	0.428864	0.27298	N	0.020019	T	0.17746	0.0426	N	0.00459	-1.475	0.18873	N	0.999985	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	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.0;0.001;0.0;0.0	T	0.44772	-0.9306	10	0.07325	T	0.83	-21.5241	9.0992	0.36658	0.0844:0.7402:0.0:0.1755	.	144;132;99;49;132;101;93;101;101	B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	R	49;101;57;144;132	ENSP00000445432:H49R;ENSP00000293195:H101R;ENSP00000390875:H57R;ENSP00000416515:H144R;ENSP00000408595:H132R	ENSP00000293195:H101R	H	-	2	0	FDXR	70374254	0.002000	0.14202	0.127000	0.21898	0.978000	0.69477	-0.381000	0.07417	-0.777000	0.04572	0.459000	0.35465	CAT	.		0.637	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		C	72862659	T	C	72862659	3	2	18	1	0	0	0	0	1	0	0	0	5829	1464	51	4	1227	4	FDXR	17	72862659	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	76258	72862659	8332551	142	3628											
KIAA0195	9772	bcgsc.ca	37	chr17	73485707	73485707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcagtgccccgggGgtcacttcctggcagtacac	10	14	4	0	rs34364349	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:73485707G>A	ENST00000314256.7	+	9	1312	c.918G>A	c.(916-918)ggG>ggA	p.G306G	KIAA0195_ENST00000375248.5_Silent_p.G316G|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	306						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)			GTGCCCCGGGGGTCACTTCCT	0.632													G|||	174	0.0347444	0.0386	0.0375	5008	,	,		18477	0.001		0.0755	False		,,,				2504	0.0204				p.G306G		.											.	KIAA0195-91	0			c.G918A						.	G		187,4219	118.8+/-156.5	4,179,2020	100	72	81		918	-3.3	0.9	17	dbSNP_126	81	479,8121	140.0+/-196.6	10,459,3831	no	coding-synonymous	KIAA0195	NM_014738.4		14,638,5851	AA,AG,GG		5.5698,4.2442,5.1207		306/1357	73485707	666,12340	2203	4300	6503	SO:0001819	synonymous_variant	9772	exon9			CCCGGGGGTCACT		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.918G>A	17.37:g.73485707G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	183	6	NM_014738	0	0	21	21	0	O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	CCDS32732.1																																																																																			G|0.951;A|0.049		0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		A	73485707	G	A	73485707	2	1	18	1	0	0	0	0	0	0	0	1	8187	1219	43	3		3	KIAA0195	17	73485707	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	623048	73485707	7709503	143	3629											
TNRC6C	57690	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	76067213	76067213	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctggatcatgagccgGctgatcaaacaactcacaga	11	11	3	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr17:76067213G>C	ENST00000588061.1	+	8	3553	c.2826G>C	c.(2824-2826)cgG>cgC	p.R942R	TNRC6C_ENST00000541771.1_Silent_p.R942R|TNRC6C_ENST00000544502.1_Silent_p.R939R|TNRC6C_ENST00000301624.4_Silent_p.R942R|TNRC6C_ENST00000588847.1_Silent_p.R939R|TNRC6C_ENST00000335749.4_Silent_p.R939R			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	942	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCATGAGCCGGCTGATCAAAC	0.493																																					p.R942R		.											.	TNRC6C-24	0			c.G2826C						.						72	73	73					17																	76067213		1964	4148	6112	SO:0001819	synonymous_variant	57690	exon7			GAGCCGGCTGATC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2826G>C	17.37:g.76067213G>C		Somatic	187	0		WXS	Illumina GAIIx	Phase_I	331	27	NM_018996	0	0	1	1	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.		0.493	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		C	76067213	G	C	76067213	2	2	18	1	0	0	0	0	0	0	0	1	16389	1190	42	3		3	TNRC6C	17	76067213	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	2581506	76067213	5127997	144	3630											
SEH1L	81929	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	12986994	12986994	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgccaacctccagtatcctCaccctcgcagacgatatctc	5	18	2	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr18:12986994C>A	ENST00000262124.11	+	0	2953				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_Missense_Mutation_p.H402N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCAGTATCCTCACCCTCGCAG	0.493																																					p.H402N		.											.	SEH1L-90	0			c.C1204A						.						114	103	107					18																	12986994		2203	4300	6503	SO:0001624	3_prime_UTR_variant	81929	exon9			TATCCTCACCCTC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1743C>A	18.37:g.12986994C>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	66	26	NM_001013437	0	0	19	35	16	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.982120	0.34942	.	.	ENSG00000085415	ENST00000399892	T	0.69040	-0.37	5.7	5.7	0.88788	.	0.351640	0.26887	N	0.021997	T	0.58047	0.2095	.	.	.	0.27581	N	0.949582	B	0.02656	0.0	B	0.04013	0.001	T	0.53229	-0.8468	9	0.48119	T	0.1	-6.0588	14.6453	0.68756	0.1454:0.8546:0.0:0.0	.	402	Q96EE3-1	.	N	402	ENSP00000382779:H402N	ENSP00000382779:H402N	H	+	1	0	SEH1L	12976994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.888000	0.56204	2.697000	0.92050	0.557000	0.71058	CAC	.		0.493	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		A	12986994	C	A	12986994	1	1	18	0	1	0	0	0	0	0	0	0	14054	826	29	3		3	SEH1L	18	12986994	3'UTR	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10		12986994	65090254	145	3631											
SMAD7	4092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	46447841	46447841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaaagctgatctgcacGgtaaagcccgtccacggctg	10	13	2	1	rs141213977	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr18:46447841G>A	ENST00000262158.2	-	4	1468	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	SMAD7_ENST00000585986.1_5'Flank|SMAD7_ENST00000589634.1_Silent_p.T393T|SMAD7_ENST00000591805.1_Silent_p.T179T	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	394	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGATCTGCACGGTAAAGCCCG	0.592													G|||	2	0.000399361	0	0	5008	,	,		14806	0		0	False		,,,				2504	0.002				p.T394T		.											.	SMAD7-414	0			c.C1182T						.	G	,,,	2,4404	4.2+/-10.8	0,2,2201	61	55	57		1179,537,618,1182	-3.5	0.9	18	dbSNP_134	57	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMAD7	NM_001190821.1,NM_001190822.1,NM_001190823.1,NM_005904.3	,,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,,	393/426,179/212,206/239,394/427	46447841	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4092	exon4			CTGCACGGTAAAG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1182C>T	18.37:g.46447841G>A		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	167	54	NM_005904	0	0	9	14	5	B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	CCDS11936.1																																																																																			G|0.999;A|0.001		0.592	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		A	46447841	G	A	46447841	2	1	18	1	0	0	0	0	0	0	0	1	14808	1103	39	1		1	SMAD7	18	46447841	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	33460847	46447841	31629407	146	3632											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_019112	0	0	0	0	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	18	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10		1065044	58063939	147	3633											
C19orf29	58509	hgsc.bcm.edu	37	chr19	3613346	3613346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggcggggtgggcgccGcgtcctcaggctccaggctg	19	15	1	0	rs2074789	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:3613346G>A	ENST00000429344.2	-	9	1548	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	CACTIN_ENST00000248420.5_Missense_Mutation_p.A499V|CACTIN_ENST00000221899.3_Missense_Mutation_p.A431V|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	499				A -> V (in Ref. 4; AAH19848). {ECO:0000305}.	cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGTGGGCGCCGCGTCCTCAGG	0.781													G|||	2156	0.430511	0.3018	0.6037	5008	,	,		8769	0.3294		0.5795	False		,,,				2504	0.4325				p.A499V		.											.	.	0			c.C1496T						.	G	VAL/ALA,VAL/ALA	1466,1576		408,650,463	4	5	5		1496,1496	-5.6	0	19	dbSNP_96	5	4326,2414		1492,1342,536	yes	missense,missense	C19orf29	NM_001080543.1,NM_021231.1	64,64	1900,1992,999	AA,AG,GG		35.816,48.192,40.7892	benign,benign	499/759,499/759	3613346	5792,3990	1521	3370	4891	SO:0001583	missense	58509	exon9			GGCGCCGCGTCCT	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1496C>T	19.37:g.3613346G>A	ENSP00000415078:p.Ala499Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_021231	0	0	0	1	1	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	CCDS45920.1	1016|1016	0.4652014652014652|0.4652014652014652	166|166	0.33739837398373984|0.33739837398373984	219|219	0.6049723756906077|0.6049723756906077	189|189	0.3304195804195804|0.3304195804195804	442|442	0.58311345646438|0.58311345646438	G|G	10.30|10.30	1.311266|1.311266	0.23821|0.23821	0.48192|0.48192	0.64184|0.64184	ENSG00000105298|ENSG00000226800	ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295	.|.	.|.	.|.	3.38|3.38	-5.6|-5.6	0.02497|0.02497	.|.	2.059910|.	0.01925|.	N|.	0.040837|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.26602|.	0.116;0.154|.	B;B|.	0.18561|.	0.022;0.004|.	T|T	0.46952|0.46952	-0.9154|-0.9154	8|4	0.30078|.	T|.	0.28|.	.|.	0.7428|0.7428	0.00977|0.00977	0.2199:0.145:0.1962:0.4388|0.2199:0.145:0.1962:0.4388	rs2074789;rs11557007|rs2074789;rs11557007	499;499|.	Q8WUQ7-2;Q8WUQ7|.	.;CS029_HUMAN|.	V|H	499;499;431|325	.|.	ENSP00000221899:A431V|.	A|R	-|+	2|2	0|0	C19orf29|C19orf29OS	3564346|3564346	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	-1.122000|-1.122000	0.03267|0.03267	-0.535000|-0.535000	0.06307|0.06307	-0.258000|-0.258000	0.10820|0.10820	GCG|CGC	G|0.535;A|0.465		0.781	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			A	3613346	G	A	3613346	3	1	18	1	0	0	0	0	1	0	0	0	1925	1087	38	1	788	1	C19orf29	19	3613346	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	2548302	3613346	55515637	148	3634											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13319693	13319693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	25	4	0	0	rs16051	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	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.6657T>C	19.37:g.13319693A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	11	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	18	1	0	0	0	0	0	0	0	1	2545	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	9706347	13319693	45809290	149	3635											
C19orf57	79173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	14000524	14000524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagcctggcaaggccCtcctgtggcctccatcagcg	13	15	1	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:14000524C>T	ENST00000586783.1	-	5	1144	c.1145G>A	c.(1144-1146)aGg>aAg	p.R382K	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.R382K|C19orf57_ENST00000454313.1_Missense_Mutation_p.R382K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	382					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGGCAAGGCCCTCCTGTGGCC	0.667																																					p.R382K		.											.	C19orf57-93	0			c.G1145A						.						27	24	25					19																	14000524		2203	4297	6500	SO:0001583	missense	79173	exon6			AAGGCCCTCCTGT	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1145G>A	19.37:g.14000524C>T	ENSP00000465822:p.Arg382Lys	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	51	10	NM_024323	0	0	4	4	0	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37		.	.	.	.	.	.	.	.	.	.	C	5.208	0.223956	0.09863	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.44083	0.93;0.93	4.21	-0.897	0.10553	.	0.854480	0.09958	N	0.733737	T	0.18841	0.0452	N	0.24115	0.695	0.09310	N	1	B;B	0.24823	0.05;0.112	B;B	0.20767	0.031;0.031	T	0.25813	-1.0121	10	0.05620	T	0.96	-0.0481	2.2681	0.04084	0.4017:0.3446:0.1521:0.1016	.	382;382	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	382	ENSP00000404382:R382K;ENSP00000254336:R382K	ENSP00000254336:R382K	R	-	2	0	C19orf57	13861524	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.661000	0.05311	0.070000	0.16634	-0.274000	0.10170	AGG	.		0.667	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		T	14000524	C	T	14000524	3	4	18	1	0	0	0	0	1	0	0	0	1946	681	24	3	780	3	C19orf57	19	14000524	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	680831	14000524	45128459	150	3636											
PKN1	5585	hgsc.bcm.edu	37	chr19	14552087	14552087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatccgcaaggagctgaagCtgaaggagggtgctgagaac	15	7	0	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:14552087C>T	ENST00000242783.6	+	2	319	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PKN1_ENST00000342216.4_Silent_p.L58L|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	52					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGCTGAAGCTGAAGGAGGG	0.736																																					p.L58L	NSCLC(185;2539 2965 10733 52867)	.											.	PKN1-1481	0			c.C172T						.						5	8	7					19																	14552087		1833	3984	5817	SO:0001819	synonymous_variant	5585	exon2			CTGAAGCTGAAGG	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.154C>T	19.37:g.14552087C>T		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	91	8	NM_213560	0	0	27	32	5	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																			.		0.736	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		T	14552087	C	T	14552087	2	4	18	1	0	0	0	0	0	0	0	1	12018	796	28	3		3	PKN1	19	14552087	Silent	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	551563	14552087	44576896	151	3637											
GIPC1	10755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14591159	14591159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcagcgtgaaggtacGgcctcggggcagctccttga	15	11	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:14591159G>A	ENST00000393033.4	-	6	882	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	GIPC1_ENST00000591349.1_Missense_Mutation_p.R108C|GIPC1_ENST00000393028.1_Missense_Mutation_p.R108C|GIPC1_ENST00000586027.1_Missense_Mutation_p.R205C|GIPC1_ENST00000345425.2_Missense_Mutation_p.R205C|GIPC1_ENST00000393029.3_Missense_Mutation_p.R108C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	205	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTGAAGGTACGGCCTCGGGGC	0.692											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R205C	Pancreas(33;78 923 2910 41023 52850)	.											.	GIPC1-226	0			c.C613T						.						41	43	42					19																	14591159		2203	4300	6503	SO:0001583	missense	10755	exon5			AGGTACGGCCTCG	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.613C>T	19.37:g.14591159G>A	ENSP00000376753:p.Arg205Cys	Somatic	49	0	696	WXS	Illumina GAIIx	Phase_I	312	42	NM_202468	0	0	112	143	31	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753772	0.89753	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.058228	0.64402	D	0.000003	T	0.51295	0.1666	L	0.44542	1.39	0.58432	D	0.999998	D	0.67145	0.996	P	0.56916	0.809	T	0.53294	-0.8459	10	0.59425	D	0.04	-25.5094	15.6737	0.77297	0.0:0.0:1.0:0.0	.	205	O14908	GIPC1_HUMAN	C	205;205;108;108;205	ENSP00000376753:R205C;ENSP00000340698:R205C;ENSP00000376749:R108C;ENSP00000376748:R108C	ENSP00000340698:R205C	R	-	1	0	GIPC1	14452159	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.416000	0.59815	2.311000	0.77944	0.561000	0.74099	CGT	.		0.692	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			A	14591159	G	A	14591159	3	1	18	1	0	0	0	0	1	0	0	0	6418	1116	39	1	404	1	GIPC1	19	14591159	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	39072	14591159	44537824	152	3638											
CYP4F8	11283	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15739164	15739164	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctgaaggagagcctgCggttgcatcccccaatccct	11	14	0	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:15739164C>T	ENST00000441682.2	+	0	1229							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGAGCCTGCGGTTGCATCC	0.617																																					.		.											.	CYP4F8-90	0			.						.						81	89	86					19																	15739164		2203	4300	6503			11283	.			AGCCTGCGGTTGC	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739164C>T		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	101	20	.	0	0	0	0	0		RNA	SNP	ENST00000441682.2	37		.	.	.	.	.	.	.	.	.	.	.	11.60	1.687508	0.29962	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	1.1	0.20463	.	0.000000	0.85682	U	0.000000	T	0.65260	0.2674	.	.	.	0.46927	D	0.999252	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70204	-0.4936	7	0.87932	D	0	.	5.6234	0.17469	0.1926:0.6934:0.0:0.114	.	202;390	B4DU85;P98187	.;CP4F8_HUMAN	W	389;202;239	.	ENSP00000314398:R202W	R	+	1	2	CYP4F8	15600164	1.000000	0.71417	0.921000	0.36526	0.021000	0.10359	1.295000	0.33377	0.653000	0.30826	-0.324000	0.08512	CGG	.		0.617	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		T	15739164	C	T	15739164	1	4	18	0	1	0	0	0	0	0	0	0	4200	759	27	1		1	CYP4F8	19	15739164	RNA	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	1148005	15739164	43389819	153	3639											
INSL3	3640	hgsc.bcm.edu	37	chr19	17932200	17932200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgcgcactagcgcgcgtAcgaagtggtggccgcacaac	13	14	0	0	rs570837260		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:17932200A>C	ENST00000317306.7	-	1	132	c.116T>G	c.(115-117)gTa>gGa	p.V39G	INSL3_ENST00000379695.5_Missense_Mutation_p.V39G	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						TAGCGCGCGTACGAAGTGGTG	0.736													A|||	1	0.000199681	0	0	5008	,	,		12366	0		0.001	False		,,,				2504	0				p.V39G		.											.	INSL3-90	0			c.T116G						.						5	8	7					19																	17932200		1902	3657	5559	SO:0001583	missense	3640	exon1			GCGCGTACGAAGT		CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.116T>G	19.37:g.17932200A>C	ENSP00000321724:p.Val39Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	47	10	NM_005543	0	0	0	0	0	B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Missense_Mutation	SNP	ENST00000317306.7	37	CCDS12365.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.285966	0.59867	.	.	ENSG00000248099	ENST00000317306;ENST00000379695	T;T	0.65916	-0.18;-0.18	3.63	3.63	0.41609	Insulin-like (4);	.	.	.	.	T	0.73853	0.3640	M	0.71581	2.175	0.46437	D	0.999041	D;D	0.76494	0.998;0.999	D;D	0.69824	0.943;0.966	T	0.75619	-0.3255	9	0.87932	D	0	.	8.5677	0.33550	1.0:0.0:0.0:0.0	.	39;39	G3XAG0;P51460	.;INSL3_HUMAN	G	39	ENSP00000321724:V39G;ENSP00000369017:V39G	ENSP00000321724:V39G	V	-	2	0	INSL3	17793200	0.048000	0.20356	0.973000	0.42090	0.722000	0.41435	1.062000	0.30555	1.515000	0.48885	0.397000	0.26171	GTA	.		0.736	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		C	17932200	A	C	17932200	3	2	18	1	0	0	0	0	1	0	0	0	7794	391	14	5	287	5	INSL3	19	17932200	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	2193036	17932200	41196783	154	3640											
ZNF675	171392	broad.mit.edu	37	chr19	23837296	23837296	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagactttcacatatttatCacattgaaacattttgctct	3	8	3	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:23837296C>G	ENST00000359788.4	-	4	607	c.439G>C	c.(439-441)Gat>Cat	p.D147H	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	147					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATATTTATCACATTGAAAC	0.308																																					p.D147H		.											.	ZNF675-228	0			c.G439C						.						70	70	70					19																	23837296		2202	4299	6501	SO:0001583	missense	171392	exon4			ATTTATCACATTG		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.439G>C	19.37:g.23837296C>G	ENSP00000352836:p.Asp147His	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	78	3	NM_138330	0	0	2	2	0	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	6.231	0.410809	0.11812	.	.	ENSG00000197372	ENST00000359788	T	0.30182	1.54	0.916	-0.317	0.12736	.	.	.	.	.	T	0.30634	0.0771	M	0.76328	2.33	0.19575	N	0.999966	B	0.29531	0.247	B	0.35470	0.203	T	0.44065	-0.9352	9	0.56958	D	0.05	.	1.4505	0.02374	0.3489:0.35:0.0:0.3011	.	147	Q8TD23	ZN675_HUMAN	H	147	ENSP00000352836:D147H	ENSP00000352836:D147H	D	-	1	0	ZNF675	23629136	0.000000	0.05858	0.315000	0.25238	0.312000	0.27988	-2.142000	0.01298	0.300000	0.22699	0.305000	0.20034	GAT	.		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		G	23837296	C	G	23837296	3	3	18	1	0	0	0	0	1	0	0	0	18130	826	29	3	1271	3	ZNF675	19	23837296	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	5905096	23837296	35291687	155	3641											
NFKBID	84807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	36380791	36380791	+	Splice_Site	DEL	C	C	-													gcaggctcagtgcttacttaCcccctcagggcccggcccgg							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:36380791delC	ENST00000396901.1	-	11	1462		c.e11+1		NFKBID_ENST00000606253.1_Splice_Site|NFKBID_ENST00000352614.2_Splice_Site|NFKBID_ENST00000340950.2_Splice_Site	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta						inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TGCTTACTTACCCCCTCAGGG	0.662																																					.		.											.	NFKBID-90	0			c.888+1G>-						.						36	42	40					19																	36380791		1996	4124	6120	SO:0001630	splice_region_variant	84807	exon12			TACTTACCCCCTC	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.888+1G>-	19.37:g.36380791delC		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	127	54	NM_139239	0	0	0	0	0	Q8NI39|Q9BRG9	Splice_Site	DEL	ENST00000396901.1	37	CCDS42552.1																																																																																			.		0.662	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721	Intron	-	36380791	C	-	36380791	8	5	18	1	0	1	0	1	0	0	1	0	10418	521	18	0	60	0	NFKBID	19	36380791	Splice_Site	DEL	C	TCGA-OR-A5JP-01A-11D-A29I-10	12543495	36380791	22748192	156	3642											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	10	NM_148169	0	0	2	2	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	18	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	3060127	39440918	19688065	157	3643											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000221481.6_3'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000400	0	0	5	19	14	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	18	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	6426341	45867259	13261724	158	3644											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagctggcgcggcggcAgaggcggcggcaggcgcggc	24	12	0	1	rs1804994	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1	2	1					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015710	0	0	0	69	69	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		G	48258717	A	G	48258717	3	3	18	1	0	0	0	0	1	0	0	0	6501	188	7	4	1200	4	GLTSCR2	19	48258717	Missense_Mutation	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	2391458	48258717	10870266	159	3645											
VN1R2	317701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	53762590	53762590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcatccttgcattggTgagcacctttgcattatgtt	8	10	0	1			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr19:53762590T>G	ENST00000341702.3	+	1	1046	c.962T>G	c.(961-963)gTg>gGg	p.V321G	VN1R2_ENST00000598458.1_Splice_Site	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	321					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTTGCATTGGTGAGCACCTTT	0.458																																					p.V321G		.											.	VN1R2-90	0			c.T962G						.						249	216	227					19																	53762590		2203	4300	6503	SO:0001583	missense	317701	exon1			CATTGGTGAGCAC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.962T>G	19.37:g.53762590T>G	ENSP00000351244:p.Val321Gly	Somatic	229	1		WXS	Illumina GAIIx	Phase_I	399	55	NM_173856	0	0	0	0	0	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717866	0.48622	.	.	ENSG00000196131	ENST00000341702	T	0.46451	0.87	2.93	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.67869	0.2939	M	0.92077	3.27	0.20307	N	0.999914	D	0.76494	0.999	D	0.81914	0.995	T	0.55528	-0.8127	9	0.72032	D	0.01	.	7.7473	0.28877	0.0:0.0:0.2135:0.7865	.	321	Q8NFZ6	VN1R2_HUMAN	G	321	ENSP00000351244:V321G	ENSP00000351244:V321G	V	+	2	0	VN1R2	58454402	0.975000	0.34042	0.027000	0.17364	0.261000	0.26267	1.384000	0.34396	0.532000	0.28657	0.481000	0.45027	GTG	.		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		G	53762590	T	G	53762590	3	3	18	1	0	0	0	0	1	0	0	0	17228	1696	59	5	964	5	VN1R2	19	53762590	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	5503873	53762590	5366393	160	3646											
BPIL3	128859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	31626724	31626724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttattctgtagattggtgagCtgcccccacaaaccaccaag	8	12	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:31626724C>A	ENST00000349552.1	+	9	856	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	286						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GATTGGTGAGCTGCCCCCACA	0.532																																					p.L286M		.											.	.	0			c.C856A						.						215	213	213					20																	31626724		2203	4300	6503	SO:0001583	missense	128859	exon9			GGTGAGCTGCCCC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.856C>A	20.37:g.31626724C>A	ENSP00000344929:p.Leu286Met	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	151	12	NM_174897	0	0	0	0	0		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741171	0.49151	.	.	ENSG00000167104	ENST00000349552	T	0.09350	2.99	4.49	3.55	0.40652	.	0.153753	0.30151	N	0.010300	T	0.28433	0.0703	M	0.79475	2.455	0.22796	N	0.99872	D	0.76494	0.999	D	0.74348	0.983	T	0.03840	-1.0999	10	0.41790	T	0.15	.	8.2175	0.31521	0.0:0.8914:0.0:0.1086	.	286	Q8NFQ5	BPIB6_HUMAN	M	286	ENSP00000344929:L286M	ENSP00000344929:L286M	L	+	1	2	BPIFB6	31090385	0.337000	0.24766	0.251000	0.24312	0.913000	0.54294	0.712000	0.25779	1.110000	0.41699	0.561000	0.74099	CTG	.		0.532	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		A	31626724	C	A	31626724	3	1	18	1	0	0	0	0	1	0	0	0	1497	796	28	3	890	3	BPIL3	20	31626724	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10		31626724	31398796	161	3647											
ELMO2	63916	bcgsc.ca	37	chr20	45014770	45014770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttttactcacacctggaGgtgtgagatgagctgtccca	11	9	1	2	rs112131818	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:45014770G>A	ENST00000290246.6	-	9	864	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	ELMO2_ENST00000445496.2_Missense_Mutation_p.L41F|ELMO2_ENST00000352077.2_Missense_Mutation_p.L222F|ELMO2_ENST00000372176.1_Missense_Mutation_p.L136F|ELMO2_ENST00000396391.1_Missense_Mutation_p.L224F|ELMO2_ENST00000439931.2_Missense_Mutation_p.L224F|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	224					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CACACCTGGAGGTGTGAGATG	0.493													G|||	45	0.00898562	0.0318	0	5008	,	,		20924	0.001		0	False		,,,				2504	0.002				p.L224F		.											.	ELMO2-91	0			c.C670T						.						115	109	111					20																	45014770		2203	4300	6503	SO:0001583	missense	63916	exon8			CCTGGAGGTGTGA	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.670C>T	20.37:g.45014770G>A	ENSP00000290246:p.Leu224Phe	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_182764	0	0	0	0	0	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291388	0.80914	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;0.92;-0.1;0.52;-0.1	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.49571	1.57	0.80722	D	1	P;P;P	0.50156	0.843;0.932;0.91	P;P;P	0.53912	0.737;0.708;0.737	T	0.70396	-0.4883	10	0.49607	T	0.09	-21.0836	17.1413	0.86754	0.0:0.0:1.0:0.0	.	224;224;224	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	F	224;136;224;224;41;222;12;224	ENSP00000290246:L224F;ENSP00000361249:L136F;ENSP00000379673:L224F;ENSP00000396519:L224F;ENSP00000409920:L41F;ENSP00000326172:L222F;ENSP00000388962:L12F;ENSP00000416181:L224F	ENSP00000290246:L224F	L	-	1	0	ELMO2	44448177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.129000	0.71657	2.526000	0.85167	0.591000	0.81541	CTC	G|0.999;A|0.001		0.493	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		A	45014770	G	A	45014770	3	1	18	1	0	0	0	0	1	0	0	0	5082	1000	35	3	1548	3	ELMO2	20	45014770	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	13388046	45014770	18010750	162	3648											
PREX1	57580	ucsc.edu;bcgsc.ca	37	chr20	47262549	47262549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctcagccaaggatgCgtcgcaggacccacccgagg	13	16	1	0	rs6012504	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:47262549C>T	ENST00000371941.3	-	26	3374	c.3352G>A	c.(3352-3354)Gca>Aca	p.A1118T	PREX1_ENST00000396220.1_Missense_Mutation_p.A1118T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1118			A -> T (in dbSNP:rs6012504). {ECO:0000269|PubMed:11955434}.		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)			GCCAAGGATGCGTCGCAGGAC	0.592													C|||	854	0.170527	0.3669	0.0893	5008	,	,		21267	0.0873		0.0805	False		,,,				2504	0.1411				p.A1118T		.											.	PREX1-231	0			c.G3352A						.	C	THR/ALA	1434,2972	465.7+/-354.3	236,962,1005	85	72	77		3352	2.8	0	20	dbSNP_114	77	518,8082	146.0+/-201.7	18,482,3800	yes	missense	PREX1	NM_020820.3	58	254,1444,4805	TT,TC,CC		6.0233,32.5465,15.0085	benign	1118/1660	47262549	1952,11054	2203	4300	6503	SO:0001583	missense	57580	exon26			AGGATGCGTCGCA	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.3352G>A	20.37:g.47262549C>T	ENSP00000361009:p.Ala1118Thr	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	134	33	NM_020820	0	0	2	4	2	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	322	0.14743589743589744	177	0.3597560975609756	40	0.11049723756906077	53	0.09265734265734266	52	0.06860158311345646	C	8.060	0.767934	0.15983	0.325465	0.060233	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.36157	1.27;1.27	4.86	2.84	0.33178	.	0.365713	0.22680	U	0.056948	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.14012	0.009;0.008	B;B	0.09377	0.001;0.004	T	0.44636	-0.9315	9	0.32370	T	0.25	.	10.2951	0.43618	0.0:0.282:0.5772:0.1409	rs6012504;rs57345997;rs6012504	1118;415	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	T	1118	ENSP00000361009:A1118T;ENSP00000379522:A1118T	ENSP00000361009:A1118T	A	-	1	0	PREX1	46695956	0.967000	0.33354	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	0.543000	0.28864	-0.147000	0.13772	GCA	C|0.843;T|0.157		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47262549	C	T	47262549	3	4	18	1	0	0	0	0	1	0	0	0	12518	768	27	1	1687	1	PREX1	20	47262549	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	2247779	47262549	15762971	163	3649											
PCK1	5105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	56136550	56136550	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcctaccccaggcagtgaGggagtttctcgagaataacg	12	11	1	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:56136550G>C	ENST00000319441.4	+	2	247	c.83G>C	c.(82-84)aGg>aCg	p.R28T	PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'Flank	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	28					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGGCAGTGAGGGAGTTTCTC	0.572																																					p.R28T		.											.	PCK1-227	0			c.G83C						.						100	96	97					20																	56136550		2203	4300	6503	SO:0001583	missense	5105	exon2			CAGTGAGGGAGTT		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.83G>C	20.37:g.56136550G>C	ENSP00000319814:p.Arg28Thr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	71	14	NM_002591	0	0	1	1	0	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130220	0.37630	.	.	ENSG00000124253	ENST00000319441	T	0.11712	2.75	5.42	5.42	0.78866	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.084482	0.85682	D	0.000000	T	0.13500	0.0327	L	0.55213	1.73	0.80722	D	1	B	0.32203	0.36	B	0.35182	0.197	T	0.03240	-1.1057	10	0.34782	T	0.22	-39.0454	12.5584	0.56267	0.0757:0.0:0.9243:0.0	.	28	P35558	PCKGC_HUMAN	T	28	ENSP00000319814:R28T	ENSP00000319814:R28T	R	+	2	0	PCK1	55569956	1.000000	0.71417	0.940000	0.37924	0.184000	0.23303	6.291000	0.72719	2.551000	0.86045	0.561000	0.74099	AGG	.		0.572	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			C	56136550	G	C	56136550	3	2	18	1	0	0	0	0	1	0	0	0	11620	1000	35	3	85	3	PCK1	20	56136550	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	8874001	56136550	6888970	164	3650											
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	59829909	59829909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaggatcttacaactagaGagacctgcaaggctgggttc	12	8	1	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:59829909G>A	ENST00000360469.5	+	2	173	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	29					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACAACTAGAGAGACCTGCAA	0.438																																					p.E29K		.											.	CDH4-282	0			c.G85A						.						122	135	130					20																	59829909		2203	4300	6503	SO:0001583	missense	1002	exon2			ACTAGAGAGACCT	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.85G>A	20.37:g.59829909G>A	ENSP00000353656:p.Glu29Lys	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	81	17	NM_001794	0	0	2	2	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318690	0.40996	.	.	ENSG00000179242	ENST00000360469	T	0.55930	0.49	5.37	3.28	0.37604	.	1.367040	0.05131	N	0.492644	T	0.39384	0.1076	N	0.14661	0.345	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.01791	-1.1273	9	.	.	.	.	13.5511	0.61732	0.0:0.5058:0.4942:0.0	.	29	P55283	CADH4_HUMAN	K	29	ENSP00000353656:E29K	.	E	+	1	0	CDH4	59263304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.629000	0.46485	1.249000	0.43950	0.655000	0.94253	GAG	.		0.438	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	59829909	G	A	59829909	3	1	18	1	0	0	0	0	1	0	0	0	3119	943	33	3	91	3	CDH4	20	59829909	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	3693359	59829909	3195611	165	3651											
TNFRSF6B	8771	ucsc.edu;bcgsc.ca	37	chr20	62328453	62328453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgccacccacaaccgTgcctgccgctgccgcaccgg	10	21	0	0	rs2258056	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr20:62328453T>C	ENST00000369996.1	+	1	433	c.333T>C	c.(331-333)cgT>cgC	p.R111R	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	111					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCCACAACCGTGCCTGCCGCT	0.662													C|||	1323	0.264177	0.0242	0.2666	5008	,	,		16647	0.6468		0.2048	False		,,,				2504	0.2536				p.R111R		.											.	TNFRSF6B-651	0			c.T333C						.	C		294,4036		15,264,1886	11	13	12		333	-5.2	0.1	20	dbSNP_100	12	1841,6681		205,1431,2625	no	coding-synonymous	TNFRSF6B	NM_003823.3		220,1695,4511	CC,CT,TT		21.6029,6.7898,16.6122		111/301	62328453	2135,10717	2165	4261	6426	SO:0001819	synonymous_variant	8771	exon1			CAACCGTGCCTGC	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.333T>C	20.37:g.62328453T>C		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	177	118	NM_003823	0	0	10	29	19		Silent	SNP	ENST00000369996.1	37	CCDS13532.1																																																																																			T|0.777;C|0.223		0.662	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			C	62328453	T	C	62328453	2	2	18	1	0	0	0	0	0	0	0	1	16345	1683	59	4		4	TNFRSF6B	20	62328453	Silent	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	2498544	62328453	697067	166	3652											
ZNF295	49854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	43412530	43412530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacatgacggtgaagacctgCtgttgatctaaagatcttaa	9	7	2	5			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr21:43412530C>G	ENST00000310826.5	-	3	1858	c.1675G>C	c.(1675-1677)Gca>Cca	p.A559P	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.A559P|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A559P	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	559					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)										TGAAGACCTGCTGTTGATCTA	0.403																																					p.A559P		.											.	.	0			c.G1675C						.						151	136	141					21																	43412530		2203	4300	6503	SO:0001583	missense	49854	exon3			GACCTGCTGTTGA	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.1675G>C	21.37:g.43412530C>G	ENSP00000308759:p.Ala559Pro	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	132	39	NM_001098402	0	0	0	0	0	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497104	0.85069	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.15718	2.4;2.4;2.4	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.10154	-1.0642	10	0.66056	D	0.02	-13.3213	19.9915	0.97366	0.0:1.0:0.0:0.0	.	559	Q9ULJ3	ZN295_HUMAN	P	559	ENSP00000308759:A559P;ENSP00000381512:A559P;ENSP00000381523:A559P	ENSP00000308759:A559P	A	-	1	0	ZNF295	42285599	1.000000	0.71417	0.564000	0.28396	0.994000	0.84299	5.564000	0.67359	2.723000	0.93209	0.655000	0.94253	GCA	.		0.403	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		G	43412530	C	G	43412530	3	3	18	1	0	0	0	0	1	0	0	0	17875	797	28	3	1529	3	ZNF295	21	43412530	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10		43412530	4717365	167	3653											
NEFH	4744	ucsc.edu	37	chr22	29885594	29885594	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	13	11	0	3	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																					p.P655P		.											.	NEFH-90	0			c.A1965T						.						83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GTCCCCAGAGAAG		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.1965A>T	22.37:g.29885594A>T		Somatic	226	1		WXS	Illumina GAIIx	Phase_I	146	22	NM_021076	0	0	20	20	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			A|0.500;T|0.500		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	18	1	0	0	0	0	0	0	0	1	10353	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10		29885594	21418972	168	3654			2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NEFH	4744	bcgsc.ca	37	chr22	29885644	29885645	+	Missense_Mutation	DNP	CA	CA	AG													ggccaagtccccagtgaaggCagaagcaaagtcccctgaga					rs267607535		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885644_29885645CA>AG	ENST00000310624.6	+	4	2048_2049	c.2015_2016CA>AG	c.(2014-2016)gCA>gAG	p.A672E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	678	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						CCAGTGAAGGCAGAAGCAAAGT	0.564																																					p.A672E		.											.	NEFH-90	0			c.A2016G						.																																			SO:0001583	missense	4744	exon4			GAAGGCAGAAGCA		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	Exception_encountered	22.37:g.29885644_29885645delinsAG	ENSP00000311997:p.Ala672Glu	Somatic	358	0		WXS	Illumina GAIIx	Phase_I	340	0	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	DNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AG	29885645	CA	AG	29885644	3	1	18	1	0	0	0	0	1	0	0	0	10353	710	25	3	2029	3	NEFH	22	29885644	Missense_Mutation	DNP	CA	TCGA-OR-A5JP-01A-11D-A29I-10	50	29885644	21418922	169	3655			2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NEFH	4744	bcgsc.ca	37	chr22	29885670	29885693	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGCAGAAGCA	AAGTCCCCAGTGAAGGCAGAAGCA	-													caaagtcccctgagaaggccAagtccccagtgaaggcagaa					rs200302220|rs113936045		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	AAGTCCCCAGTGAAGGCAGAAGCA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885670_29885693delAAGTCCCCAGTGAAGGCAGAAGCA	ENST00000310624.6	+	4	2074_2097	c.2041_2064delAAGTCCCCAGTGAAGGCAGAAGCA	c.(2041-2064)aagtccccagtgaaggcagaagcadel	p.KSPVKAEA681del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	687	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)	p.A686E(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTG	0.571																																					p.681_688del		.											.	NEFH-90	1	Substitution - Missense(1)	endometrium(1)	c.2041_2064del						.																																			SO:0001651	inframe_deletion	4744	exon4			AAGGCCAAGTCCC		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.2041_2064delAAGTCCCCAGTGAAGGCAGAAGCA	22.37:g.29885670_29885693delAAGTCCCCAGTGAAGGCAGAAGCA	ENSP00000311997:p.Lys681_Ala688del	Somatic	410	0		WXS	Illumina GAIIx	Phase_I	403	45	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.571	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		-	29885693	AAGTCCCCAGTGAAGGCAGAAGCA	-	29885670	7	5	18	1	0	1	0	1	0	0	0	0	10353	131	5	0	2055	0	NEFH	22	29885670	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGCAGAAGCA	TCGA-OR-A5JP-01A-11D-A29I-10	26	29885670	21418896	170	3656			2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NEFH	4744	bcgsc.ca	37	chr22	29885722	29885722	+	Missense_Mutation	SNP	T	T	A													tgagaaggccaagtccccagTgaaggaagaagcaaagtccc							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885722T>A	ENST00000310624.6	+	4	2126	c.2093T>A	c.(2092-2094)gTg>gAg	p.V698E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	704	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						AAGTCCCCAGTGAAGGAAGAA	0.552																																					p.V698E		.											.	NEFH-90	0			c.T2093A						.						66	70	68					22																	29885722		2193	4274	6467	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGA		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.2093T>A	22.37:g.29885722T>A	ENSP00000311997:p.Val698Glu	Somatic	417	7		WXS	Illumina GAIIx	Phase_I	372	44	NM_021076	0	0	111	111	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	6.362	0.434952	0.12045	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82711	-1.64	4.37	-2.71	0.05986	.	0.514922	0.16469	N	0.213074	T	0.76983	0.4064	L	0.46614	1.455	0.09310	N	1	P	0.39282	0.666	P	0.44394	0.448	T	0.69815	-0.5043	10	0.87932	D	0	.	6.5863	0.22622	0.639:0.1533:0.0:0.2077	.	704	P12036	NFH_HUMAN	E	698	ENSP00000311997:V698E	ENSP00000311997:V698E	V	+	2	0	NEFH	28215722	0.000000	0.05858	0.056000	0.19401	0.172000	0.22775	-0.695000	0.05109	-0.993000	0.03467	-0.472000	0.04984	GTG	.		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885722	T	A	29885722	3	1	18	1	0	0	0	0	1	0	0	0	10353	1696	59	5	2107	5	NEFH	22	29885722	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10	52	29885722	21418844	171	3657	27	3	2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NEFH	4744	bcgsc.ca	37	chr22	29885732	29885732	+	Silent	SNP	A	A	G													aagtccccagtgaaggaagaAgcaaagtcccctgagaaggc							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885732A>G	ENST00000310624.6	+	4	2136	c.2103A>G	c.(2101-2103)gaA>gaG	p.E701E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	707	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						TGAAGGAAGAAGCAAAGTCCC	0.562																																					p.E701E		.											.	NEFH-90	0			c.A2103G						.						67	72	70					22																	29885732		2160	4233	6393	SO:0001819	synonymous_variant	4744	exon4			GGAAGAAGCAAAG		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.2103A>G	22.37:g.29885732A>G		Somatic	410	6		WXS	Illumina GAIIx	Phase_I	355	36	NM_021076	0	0	56	56	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885732	A	G	29885732	2	3	18	1	0	0	0	0	0	0	0	1	10353	69	3	4		4	NEFH	22	29885732	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	10	29885732	21418834	172	3658	27	3	2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NEFH	4744	bcgsc.ca	37	chr22	29885735	29885735	+	Silent	SNP	A	A	C													tccccagtgaaggaagaagcAaagtcccctgagaaggccaa							TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:29885735A>C	ENST00000310624.6	+	4	2139	c.2106A>C	c.(2104-2106)gcA>gcC	p.A702A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	708	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						AGGAAGAAGCAAAGTCCCCTG	0.557																																					p.A702A		.											.	NEFH-90	0			c.A2106C						.						66	70	69					22																	29885735		2119	4173	6292	SO:0001819	synonymous_variant	4744	exon4			AGAAGCAAAGTCC		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.2106A>C	22.37:g.29885735A>C		Somatic	410	10		WXS	Illumina GAIIx	Phase_I	352	38	NM_021076	0	0	50	50	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885735	A	C	29885735	2	2	18	1	0	0	0	0	0	0	0	1	10353	117	5	5		5	NEFH	22	29885735	Silent	SNP	A	TCGA-OR-A5JP-01A-11D-A29I-10	3	29885735	21418831	173	3659	27	3	2	13		6	4	142	N	T_CA_AAGTCCCCAGTGAAGGCAGAAGCA_A	8.688507e-11
NF2	4771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	30057313	30057313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaatccgaaacatctcGtacagtgacaaggaggtagg	11	7	1	2	rs376609988		TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:30057313G>A	ENST00000338641.4	+	8	1236	c.795G>A	c.(793-795)tcG>tcA	p.S265S	NF2_ENST00000353887.4_Silent_p.S182S|NF2_ENST00000361676.4_Silent_p.S223S|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Silent_p.S182S|NF2_ENST00000403435.1_Silent_p.S265S|NF2_ENST00000361166.4_Silent_p.S265S|NF2_ENST00000397789.3_Silent_p.S265S|NF2_ENST00000347330.5_Silent_p.S106S|NF2_ENST00000403999.3_Silent_p.S265S|NF2_ENST00000361452.4_Silent_p.S224S	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	265	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.?(3)|p.S265fs*2(1)|p.N226_E270del(1)|p.K253_S265del(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						GAAACATCTCGTACAGTGACA	0.552			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																												p.S265S		.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	NF2-4696	6	Unknown(3)|Deletion - In frame(2)|Deletion - Frameshift(1)	soft_tissue(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)	c.G795A						.	G	,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	123	114	117		795,795,795,669,672,546,546,795,	-11.6	0.2	22		117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	NF2	NM_000268.3,NM_016418.5,NM_181825.2,NM_181828.2,NM_181829.2,NM_181830.2,NM_181831.2,NM_181832.2,NM_181833.2	,,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,	265/596,265/591,265/591,223/549,224/550,182/508,182/508,265/591,	30057313	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4771	exon8	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	CATCTCGTACAGT	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.795G>A	22.37:g.30057313G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	62	8	NM_016418	0	0	8	18	10	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	ENST00000338641.4	37	CCDS13861.1																																																																																			.		0.552	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		A	30057313	G	A	30057313	2	1	18	1	0	0	0	0	0	0	0	1	10396	1132	40	1		1	NF2	22	30057313	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	171578	30057313	21247253	174	3660											
SH3BP1	23616	hgsc.bcm.edu	37	chr22	38051355	38051355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctcccctccagccccGcccttgccccctggctctgg	8	24	1	0	rs762989	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:38051355G>A	ENST00000357436.4	+	18	2083	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	590					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)					CTCCAGCCCCGCCCTTGCCCC	0.741													G|||	975	0.194688	0.2867	0.3055	5008	,	,		4753	0.0833		0.1799	False		,,,				2504	0.1217				p.P590P		.											.	SH3BP1-90	0			c.G1770A						.	G		606,2448		46,514,967	3	4	4		1770	-1	0	22	dbSNP_86	4	739,5643		39,661,2491	no	coding-synonymous	SH3BP1	NM_018957.3		85,1175,3458	AA,AG,GG		11.5794,19.8428,14.2539		590/702	38051355	1345,8091	1527	3191	4718	SO:0001819	synonymous_variant	23616	exon18			AGCCCCGCCCTTG		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.1770G>A	22.37:g.38051355G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_018957	0	0	1	1	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			G|0.825;A|0.175		0.741	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		A	38051355	G	A	38051355	2	1	18	1	0	0	0	0	0	0	0	1	14289	1074	38	1		1	SH3BP1	22	38051355	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	7994042	38051355	13253211	175	3661											
SOX10	6663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	38374133	38374133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggcgcttgtcactttcGttcagcagcctggggtgtgg	16	9	2	0			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chr22:38374133G>A	ENST00000396884.2	-	3	720	c.438C>T	c.(436-438)aaC>aaT	p.N146N	SOX10_ENST00000470555.1_5'UTR|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.N146N|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	146					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGTCACTTTCGTTCAGCAGCC	0.617																																					p.N146N	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	.											.	SOX10-650	0			c.C438T						.						17	16	16					22																	38374133		2203	4298	6501	SO:0001819	synonymous_variant	6663	exon3			ACTTTCGTTCAGC		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.438C>T	22.37:g.38374133G>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	46	5	NM_006941	0	0	0	0	0	B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	7.633	0.679272	0.14907	.	.	ENSG00000100146	ENST00000446929	.	.	.	4.45	-7.78	0.01223	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67964	-0.5534	4	.	.	.	.	15.9762	0.80066	0.7092:0.0:0.2908:0.0	.	.	.	.	M	23	.	.	T	-	2	0	SOX10	36704079	0.147000	0.22687	0.925000	0.36789	0.846000	0.48090	-0.543000	0.06084	-1.450000	0.01936	-0.463000	0.05309	ACG	.		0.617	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		A	38374133	G	A	38374133	2	1	18	1	0	0	0	0	0	0	0	1	14986	1136	40	1		1	SOX10	22	38374133	Silent	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	322778	38374133	12930433	176	3662											
RBM3	5935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48433575	48433575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgaactgccatgtccTctgaagaaggaaagctcttc	10	10	2	3			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chrX:48433575T>A	ENST00000376759.3	+	2	70	c.7T>A	c.(7-9)Tct>Act	p.S3T	RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000376755.1_Missense_Mutation_p.S3T|RBM3_ENST00000430348.2_De_novo_Start_OutOfFrame|RBM3_ENST00000466764.1_3'UTR|AC115618.1_ENST00000376775.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	3					positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TGCCATGTCCTCTGAAGAAGG	0.498											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S3T		.											.	RBM3-131	0			c.T7A						.						66	48	54					X																	48433575		2203	4300	6503	SO:0001583	missense	5935	exon2			ATGTCCTCTGAAG	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.7T>A	X.37:g.48433575T>A	ENSP00000365950:p.Ser3Thr	Somatic	42	0	954	WXS	Illumina GAIIx	Phase_I	43	19	NM_006743	0	0	30	103	73		Missense_Mutation	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289749	0.80914	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.18338	2.22;2.22	4.55	4.55	0.56014	.	0.385400	0.20491	U	0.091282	T	0.30759	0.0775	L	0.49455	1.56	0.80722	D	1	D	0.62365	0.991	P	0.60541	0.876	T	0.02404	-1.1164	10	0.72032	D	0.01	-11.0599	11.0012	0.47607	0.0:0.0:0.0:1.0	.	3	P98179	RBM3_HUMAN	T	3	ENSP00000365950:S3T;ENSP00000365946:S3T	ENSP00000365946:S3T	S	+	1	0	RBM3	48318519	1.000000	0.71417	0.986000	0.45419	0.860000	0.49131	4.084000	0.57650	1.797000	0.52628	0.417000	0.27973	TCT	.		0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743		A	48433575	T	A	48433575	3	1	18	1	0	0	0	0	1	0	0	0	13174	1551	54	5	9	5	RBM3	23	48433575	Missense_Mutation	SNP	T	TCGA-OR-A5JP-01A-11D-A29I-10		48433575	106836985	177	3663											
RRAGB	10325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	55758011	55758011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctggtacaggaggatcaaCgggacctggtaagaaacaga	13	7	2	2			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chrX:55758011C>G	ENST00000262850.7	+	6	1035	c.592C>G	c.(592-594)Cgg>Ggg	p.R198G	RRAGB_ENST00000374941.4_Missense_Mutation_p.R170G|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GGAGGATCAACGGGACCTGGT	0.413																																					p.R198G		.											.	RRAGB-130	0			c.C592G						.						39	31	34					X																	55758011		2203	4299	6502	SO:0001583	missense	10325	exon6			GATCAACGGGACC	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.592C>G	X.37:g.55758011C>G	ENSP00000262850:p.Arg198Gly	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	29	9	NM_016656	0	0	4	5	1		Missense_Mutation	SNP	ENST00000262850.7	37	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923625	0.52653	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.71579	-0.58;-0.51	4.74	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.85822	0.5786	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87347	0.2335	10	0.87932	D	0	-8.8928	11.2382	0.48953	0.1843:0.8157:0.0:0.0	.	170;198	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	G	170;132;198	ENSP00000364077:R170G;ENSP00000410630:R132G	ENSP00000262850:R198G	R	+	1	2	RRAGB	55774736	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.645000	0.54389	0.875000	0.35847	0.529000	0.55759	CGG	.		0.413	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		G	55758011	C	G	55758011	3	3	18	1	0	0	0	0	1	0	0	0	13718	527	19	2	614	2	RRAGB	23	55758011	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	7324436	55758011	99512549	178	3664											
P2RY4	5030	bcgsc.ca	37	chrX	69478421	69478421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcagctactgtcctgggGggtggccgcccacctgcagc	15	14	0	1	rs72628860	byFrequency	TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chrX:69478421G>T	ENST00000374519.2	-	1	1233	c.1054C>A	c.(1054-1056)Ccc>Acc	p.P352T		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	352				P -> T (in Ref. 5; AAH96069). {ECO:0000305}.	phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTGTCCTGGGGGGTGGCCGCC	0.622													G|||	156	0.0413245	0.0507	0.0072	3775	,	,		13258	0.0466		0.0179	False		,,,				2504	0.0194				p.P352T		.											.	P2RY4-540	0			c.C1054A						.	G	THR/PRO	210,3620		4,172,30,1454,540	41	43	42		1054	1.9	0	X	dbSNP_130	42	231,6497		5,161,60,2262,1812	yes	missense	P2RY4	NM_002565.3	38	9,333,90,3716,2352	TT,TG,T,GG,G		3.4334,5.483,4.1769	benign	352/366	69478421	441,10117	2200	4300	6500	SO:0001583	missense	5030	exon1			CCTGGGGGGTGGC	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.1054C>A	X.37:g.69478421G>T	ENSP00000363643:p.Pro352Thr	Somatic	179	2		WXS	Illumina GAIIx	Phase_I	155	10	NM_002565	0	0	0	0	0	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	CCDS14398.1	61	0.03676913803496082	22	0.04564315352697095	1	0.002777777777777778	12	0.021505376344086023	8	0.0106951871657754	G	4.718	0.133566	0.09032	0.05483	0.034334	ENSG00000186912	ENST00000374519	T	0.71103	-0.54	4.7	1.88	0.25563	.	1.020860	0.07884	U	0.969964	T	0.10294	0.0252	N	0.08118	0	0.80722	P	0.0	B	0.20671	0.047	B	0.12156	0.007	T	0.21348	-1.0248	9	0.07644	T	0.81	.	4.343	0.11119	0.1999:0.0:0.6208:0.1792	.	352	P51582	P2RY4_HUMAN	T	352	ENSP00000363643:P352T	ENSP00000363643:P352T	P	-	1	0	P2RY4	69395146	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.263000	0.08670	0.070000	0.16634	-0.205000	0.12727	CCC	G|0.960;T|0.040		0.622	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		T	69478421	G	T	69478421	3	4	18	1	0	0	0	0	1	0	0	0	11392	1232	43	3	47	3	P2RY4	23	69478421	Missense_Mutation	SNP	G	TCGA-OR-A5JP-01A-11D-A29I-10	13720410	69478421	85792139	179	3665											
CDX4	1046	broad.mit.edu;bcgsc.ca	37	chrX	72674262	72674262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaaggagagaaagatgatCaaaaagaaaatctcccagtt	9	7	2	4			TCGA-OR-A5JP-01A-11D-A29I-10	TCGA-OR-A5JP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	427accf5-7c11-44b2-9f7f-3731decb1c0f	8376e154-d763-4a55-8294-07af51b920ca	g.chrX:72674262C>G	ENST00000373514.2	+	3	696	c.696C>G	c.(694-696)atC>atG	p.I232M		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	232					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)					GAAAGATGATCAAAAAGAAAA	0.433																																					p.I232M		.											.	CDX4-130	0			c.C696G						.						106	90	96					X																	72674262		2203	4300	6503	SO:0001583	missense	1046	exon3			GATGATCAAAAAG	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.696C>G	X.37:g.72674262C>G	ENSP00000362613:p.Ile232Met	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	72	4	NM_005193	0	0	0	0	0	A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320097	0.41096	.	.	ENSG00000131264	ENST00000373514	D	0.92397	-3.03	4.05	0.856	0.19019	Homeobox (1);Homeodomain-like (1);	0.202144	0.41294	D	0.000914	D	0.90573	0.7045	L	0.38838	1.175	0.42504	D	0.992944	D	0.65815	0.995	P	0.59221	0.854	D	0.87429	0.2387	10	0.52906	T	0.07	-12.0554	7.7023	0.28630	0.31:0.5401:0.1499:0.0	.	232	O14627	CDX4_HUMAN	M	232	ENSP00000362613:I232M	ENSP00000362613:I232M	I	+	3	3	CDX4	72590987	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	1.818000	0.39012	0.157000	0.19338	0.429000	0.28392	ATC	.		0.433	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		G	72674262	C	G	72674262	3	3	18	1	0	0	0	0	1	0	0	0	3191	816	29	3	706	3	CDX4	23	72674262	Missense_Mutation	SNP	C	TCGA-OR-A5JP-01A-11D-A29I-10	3195841	72674262	82596298	180	3666											
RERE	473	hgsc.bcm.edu	37	chr1	8421186	8421186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtgggtgtggggaacaGgcgctgtgggagcctgtggc	22	6	0	0	rs201922249	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:8421186G>A	ENST00000337907.3	-	19	3015	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	RERE_ENST00000476556.1_Missense_Mutation_p.P240L|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P794L|RERE_ENST00000377464.1_Missense_Mutation_p.P526L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	794	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTGGGGAACAGGCGCTGTGGG	0.731													G|||	25	0.00499201	0	0.0101	5008	,	,		12737	0		0.0159	False		,,,				2504	0.002				p.P794L		.											.	RERE-515	0			c.C2381T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	16,4116		0,16,2050	8	9	9		2381,719,2381	4.2	0	1		9	135,8059		1,133,3963	yes	missense,missense,missense	RERE	NM_012102.3,NM_001042682.1,NM_001042681.1	98,98,98	1,149,6013	AA,AG,GG		1.6475,0.3872,1.2251	benign,benign,benign	794/1567,240/1013,794/1567	8421186	151,12175	2066	4097	6163	SO:0001583	missense	473	exon19			GGAACAGGCGCTG	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2381C>T	1.37:g.8421186G>A	ENSP00000338629:p.Pro794Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_012102	0	0	0	2	2	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	14	0.00641025641025641	0	0.0	5	0.013812154696132596	0	0.0	9	0.011873350923482849	G	20.8	4.057756	0.76074	0.003872	0.016475	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.46063	0.88;0.89;0.88	5.15	4.24	0.50183	.	.	.	.	.	T	0.22513	0.0543	L	0.44542	1.39	0.37189	D	0.903842	B;B	0.27910	0.193;0.005	B;B	0.31390	0.129;0.038	T	0.35599	-0.9782	9	0.54805	T	0.06	-2.2502	12.4483	0.55664	0.0824:0.0:0.9176:0.0	.	526;794	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	794;526;240;794	ENSP00000338629:P794L;ENSP00000366684:P526L;ENSP00000383700:P794L	ENSP00000338629:P794L	P	-	2	0	RERE	8343773	0.692000	0.27719	0.002000	0.10522	0.010000	0.07245	4.289000	0.59013	1.299000	0.44798	0.561000	0.74099	CCT	G|0.994;A|0.006		0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8421186	G	A	8421186	3	1	19	1	0	0	0	0	1	0	0	0	13276	1000	35	3	2343	3	RERE	1	8421186	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		8421186	240829435	1	3667											
UBR4	23352	bcgsc.ca	37	chr1	19413261	19413261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccggggcttattctccaTctcctccaaggctacccgct	7	16	2	0	rs12584	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:19413261T>A	ENST00000375254.3	-	100	14626	c.14599A>T	c.(14599-14601)Atg>Ttg	p.M4867L	UBR4_ENST00000375217.2_Missense_Mutation_p.M4860L|UBR4_ENST00000429347.2_Missense_Mutation_p.M390L|UBR4_ENST00000543981.1_Missense_Mutation_p.M531L|UBR4_ENST00000375224.1_Missense_Mutation_p.M574L|UBR4_ENST00000375226.2_Missense_Mutation_p.M4843L|UBR4_ENST00000375267.2_Missense_Mutation_p.M4867L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4867			M -> L (in dbSNP:rs12584). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16247014, ECO:0000269|Ref.10}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATTCTCCATCTCCTCCAAG	0.557													T|||	3012	0.601438	0.5408	0.6844	5008	,	,		19614	0.7589		0.5785	False		,,,				2504	0.4857				p.M4867L		.											.	UBR4-612	0			c.A14599T						.	T	LEU/MET	2416,1990	616.8+/-392.8	670,1076,457	122	117	119		14599	0.9	1	1	dbSNP_52	119	4866,3734	618.1+/-396.7	1393,2080,827	yes	missense	UBR4	NM_020765.2	15	2063,3156,1284	AA,AT,TT		43.4186,45.1657,44.0105	benign	4867/5184	19413261	7282,5724	2203	4300	6503	SO:0001583	missense	23352	exon100			TCTCCATCTCCTC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14599A>T	1.37:g.19413261T>A	ENSP00000364403:p.Met4867Leu	Somatic	306	1		WXS	Illumina GAIIx	Phase_I	239	7	NM_020765	0	0	30	30	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	1399	0.6405677655677655	284	0.5772357723577236	238	0.6574585635359116	447	0.7814685314685315	430	0.5672823218997362	T	13.03	2.115935	0.37339	0.548343	0.565814	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.6	0.893	0.19236	.	0.240188	0.43919	N	0.000508	T	0.00012	0.0000	N	0.01874	-0.695	0.34946	P	0.24924100000000005	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	0.16394	-1.0404	9	0.21540	T	0.41	.	5.2676	0.15607	0.0927:0.081:0.534:0.2923	rs12584;rs1043902;rs3183581;rs17846644;rs17859739;rs52808263;rs12584	531;390;4867;4843	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	4867;4867;4860;4843;574;390;531	ENSP00000364403:M4867L;ENSP00000364416:M4867L;ENSP00000364365:M4860L;ENSP00000364374:M4843L;ENSP00000364372:M574L;ENSP00000394173:M390L;ENSP00000444070:M531L	ENSP00000364365:M4860L	M	-	1	0	UBR4	19285848	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.616000	0.46376	-0.151000	0.11176	0.460000	0.39030	ATG	T|0.490;A|0.510		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19413261	T	A	19413261	3	1	19	1	0	0	0	0	1	0	0	0	16953	1435	50	5	980	5	UBR4	1	19413261	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	10992075	19413261	229837360	2	3668											
TIE1	7075	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	43775126	43775126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccccgcttggttcttgCggacagtgggttctgggagt	17	9	2	0	rs140823224	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:43775126C>T	ENST00000372476.3	+	9	1335	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	TIE1_ENST00000433781.2_Missense_Mutation_p.A64V	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	419	Ig-like C2-type 2.				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)				TTGGTTCTTGCGGACAGTGGG	0.577																																					p.A419V		.											.	TIE1-1404	0			c.C1256T						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	136	119	125		1256	-0.6	1	1	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TIE1	NM_005424.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	419/1139	43775126	2,13004	2203	4300	6503	SO:0001583	missense	7075	exon9			TTCTTGCGGACAG	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.1256C>T	1.37:g.43775126C>T	ENSP00000361554:p.Ala419Val	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	217	11	NM_005424	0	0	9	9	0	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769717	0.31320	2.27E-4	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.43688	2.65;0.94	4.87	-0.618	0.11576	Immunoglobulin-like fold (1);	0.826984	0.10159	N	0.708507	T	0.23649	0.0572	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.20780	0.031;0.038;0.005;0.018;0.048	B;B;B;B;B	0.21360	0.008;0.025;0.001;0.003;0.034	T	0.21109	-1.0255	10	0.33940	T	0.23	.	3.5038	0.07683	0.1845:0.4684:0.2417:0.1054	.	64;374;419;64;419	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	V	419;64	ENSP00000361554:A419V;ENSP00000411728:A64V	ENSP00000361554:A419V	A	+	2	0	TIE1	43547713	0.000000	0.05858	0.983000	0.44433	0.601000	0.36947	0.403000	0.20982	0.137000	0.18759	-1.177000	0.01723	GCG	C|1.000;T|0.000		0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		T	43775126	C	T	43775126	3	4	19	1	0	0	0	0	1	0	0	0	15940	768	27	1	1290	1	TIE1	1	43775126	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	24361865	43775126	205475495	3	3669											
MAGI3	260425	bcgsc.ca	37	chr1	114196495	114196495	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggccttcatttcaacAcagaatggatctccccgcct	6	15	4	1	rs2359173	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:114196495A>G	ENST00000307546.9	+	15	2559	c.2484A>G	c.(2482-2484)acA>acG	p.T828T	MAGI3_ENST00000369617.4_Silent_p.T853T|MAGI3_ENST00000369615.1_Silent_p.T828T|MAGI3_ENST00000369611.4_Silent_p.T828T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	853	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATTTCAACACAGAATGGAT	0.473													A|||	973	0.194289	0.0098	0.2032	5008	,	,		2608	0.0933		0.327	False		,,,				2504	0.4049				p.T828T		.											.	MAGI3-524	0			c.A2484G						.	A	,	299,4107	162.5+/-194.5	12,275,1916	137	151	146		2484,2484	-4.9	0.2	1	dbSNP_100	146	2612,5988	423.1+/-354.3	400,1812,2088	no	coding-synonymous,coding-synonymous	MAGI3	NM_001142782.1,NM_152900.2	,	412,2087,4004	GG,GA,AA		30.3721,6.7862,22.382	,	828/1482,828/1126	114196495	2911,10095	2203	4300	6503	SO:0001819	synonymous_variant	260425	exon15			TTCAACACAGAAT	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2484A>G	1.37:g.114196495A>G		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_152900	0	0	3	3	0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																			A|0.803;G|0.197		0.473	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		G	114196495	A	G	114196495	2	3	19	1	0	0	0	0	0	0	0	1	9230	146	6	4		4	MAGI3	1	114196495	Silent	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	70421369	114196495	135054126	4	3670											
FLG	2312	bcgsc.ca	37	chr1	152281690	152281690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctagagctgtcggccCgagaggaagcttcatggtga	15	8	2	3	rs12407748	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:152281690C>T	ENST00000368799.1	-	3	5707	c.5672G>A	c.(5671-5673)cGg>cAg	p.R1891Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1891	Ser-rich.		R -> Q (in dbSNP:rs12407748).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCGGCCCGAGAGGAAGC	0.567									Ichthyosis				C|||	1440	0.28754	0.0113	0.3905	5008	,	,		19138	0.5843		0.1421	False		,,,				2504	0.4315				p.R1891Q		.											.	FLG-106	0			c.G5672A						.	C	GLN/ARG	162,4244	108.6+/-147.0	2,158,2043	272	275	274		5672	-3.6	0	1	dbSNP_120	274	1242,7358	249.3+/-276.6	97,1048,3155	no	missense	FLG	NM_002016.1	43	99,1206,5198	TT,TC,CC		14.4419,3.6768,10.795	possibly-damaging	1891/4062	152281690	1404,11602	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCGGCCCGAGAGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5672G>A	1.37:g.152281690C>T	ENSP00000357789:p.Arg1891Gln	Somatic	263	2		WXS	Illumina GAIIx	Phase_I	218	6	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	549	0.25137362637362637	9	0.018292682926829267	114	0.3149171270718232	316	0.5524475524475524	110	0.14511873350923482	C	4.339	0.062313	0.08388	0.036768	0.144419	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03358	3.96	1.78	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	N	0.13235	0.315	0.80722	P	0.0	P	0.39250	0.665	B	0.33890	0.172	T	0.39272	-0.9622	8	0.08599	T	0.76	.	7.8311	0.29342	0.0:0.7145:0.0:0.2855	rs12407748;rs35359555;rs12407748	1891	P20930	FILA_HUMAN	Q	1891;126	ENSP00000357789:R1891Q	ENSP00000271820:R126Q	R	-	2	0	FLG	150548314	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.006000	0.00315	-1.013000	0.03383	-1.309000	0.01313	CGG	C|0.851;T|0.149		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281690	C	T	152281690	3	4	19	1	0	0	0	0	1	0	0	0	5944	652	23	1	6517	1	FLG	1	152281690	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	38085195	152281690	96968931	5	3671											
CCDC19	25790	bcgsc.ca	37	chr1	159854251	159854251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcctcttggagctgtTccatatattccagcatctgc	7	12	3	0	rs16842789	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:159854251T>C	ENST00000368099.4	-	7	936	c.872A>G	c.(871-873)gAa>gGa	p.E291G	CCDC19_ENST00000426543.2_Missense_Mutation_p.E206G|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGGAGCTGTTCCATATATTC	0.517													T|||	523	0.104433	0.2284	0.0591	5008	,	,		19923	0.0556		0.0666	False		,,,				2504	0.0583				p.E291G		.											.	CCDC19-91	0			c.A872G						.	T	GLY/GLU	863,3543	337.6+/-304.9	95,673,1435	276	247	257		872	5.1	0.3	1	dbSNP_123	257	606,7994	159.8+/-213.0	19,568,3713	yes	missense	CCDC19	NM_012337.2	98	114,1241,5148	CC,CT,TT		7.0465,19.5869,11.2948	benign	291/552	159854251	1469,11537	2203	4300	6503	SO:0001583	missense	25790	exon7			AGCTGTTCCATAT																												ENST00000368099.4:c.872A>G	1.37:g.159854251T>C	ENSP00000357079:p.Glu291Gly	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_012337	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	245	0.11217948717948718	119	0.241869918699187	23	0.06353591160220995	52	0.09090909090909091	51	0.06728232189973615	T	15.69	2.906712	0.52333	0.195869	0.070465	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11930	2.73;2.73	5.09	5.09	0.68999	.	0.414475	0.28077	N	0.016700	T	0.17066	0.0410	M	0.74647	2.275	0.24783	P	0.99280221	P;P	0.47253	0.892;0.892	P;P	0.51055	0.657;0.657	T	0.02444	-1.1158	8	.	.	.	-8.2485	13.1081	0.59259	0.0:0.0:0.0:1.0	rs16842789;rs52832557;rs59557612;rs16842789	291;291	A8K884;Q9UL16	.;CCD19_HUMAN	G	291;206	ENSP00000357079:E291G;ENSP00000403044:E206G	.	E	-	2	0	CCDC19	158120875	1.000000	0.71417	0.313000	0.25210	0.151000	0.21798	6.500000	0.73687	2.032000	0.59987	0.533000	0.62120	GAA	T|0.884;C|0.116		0.517	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			C	159854251	T	C	159854251	3	2	19	1	0	0	0	0	1	0	0	0	2802	1783	62	4	807	4	CCDC19	1	159854251	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	7572561	159854251	89396370	6	3672											
TMCO1	54499	broad.mit.edu	37	chr1	165712446	165712446	+	Frame_Shift_Del	DEL	G	G	-													agaatatacaggaaaatgaaGgaacagtctgtggtgtcatc							TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:165712446delG	ENST00000392129.6	-	6	576	c.426delC	c.(424-426)tccfs	p.S142fs	TMCO1_ENST00000367881.5_Frame_Shift_Del_p.S193fs|TMCO1_ENST00000580248.1_Frame_Shift_Del_p.S58fs|TMCO1_ENST00000464650.1_Frame_Shift_Del_p.S58fs	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	142						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)					GGAAAATGAAGGAACAGTCTG	0.403																																					p.S193fs		.											.	TMCO1-68	0			c.579delC						.						96	94	95					1																	165712446		2203	4300	6503	SO:0001589	frameshift_variant	54499	exon6			AATGAAGGAACAG	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.426delC	1.37:g.165712446delG	ENSP00000375975:p.Ser142fs	Somatic	356	0		WXS	Illumina GAIIx	Phase_I	343	13	NM_019026	0	0	0	0	0	B2REA0|O75545|Q9BZS3|Q9BZU8	Frame_Shift_Del	DEL	ENST00000392129.6	37																																																																																				.		0.403	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		-	165712446	G	-	165712446	7	5	19	1	0	1	0	1	0	0	0	0	16042	987	35	0	148	0	TMCO1	1	165712446	Frame_Shift_Del	DEL	G	TCGA-OR-A5JQ-01A-11D-A29I-10	5858195	165712446	83538175	7	3673											
CAPN9	10753	bcgsc.ca	37	chr1	230923313	230923313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagacagaggaggagcagCggtttcgggctctgtttgaa	17	6	1	3	rs12731961	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:230923313C>T	ENST00000271971.2	+	13	1677	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CAPN9_ENST00000366666.2_Missense_Mutation_p.R459W|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.R496W|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	522	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> W (in dbSNP:rs12731961). {ECO:0000269|Ref.3}.		digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGGAGCAGCGGTTTCGGGC	0.522													C|||	982	0.196086	0.3207	0.1542	5008	,	,		19755	0.0813		0.1819	False		,,,				2504	0.1902				p.R522W		.											.	CAPN9-91	0			c.C1564T						.	C	TRP/ARG,TRP/ARG	1255,3151	430.1+/-342.5	191,873,1139	118	99	105		1564,1486	3.2	0.4	1	dbSNP_121	105	1661,6939	306.2+/-307.8	158,1345,2797	yes	missense,missense	CAPN9	NM_006615.2,NM_016452.1	101,101	349,2218,3936	TT,TC,CC		19.314,28.4839,22.4204	possibly-damaging,possibly-damaging	522/691,496/665	230923313	2916,10090	2203	4300	6503	SO:0001583	missense	10753	exon13			GAGCAGCGGTTTC	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.1564C>T	1.37:g.230923313C>T	ENSP00000271971:p.Arg522Trp	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	76	5	NM_006615	0	0	0	0	0	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	381	0.17445054945054944	150	0.3048780487804878	56	0.15469613259668508	35	0.06118881118881119	140	0.18469656992084432	C	8.961	0.970662	0.18659	0.284839	0.19314	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.95103	-3.61;-3.61;-3.61	5.17	3.18	0.36537	EF-hand-like domain (1);	0.641175	0.17553	N	0.170097	T	0.00039	0.0001	L	0.34521	1.04	0.80722	P	0.0	P;P;P	0.52061	0.917;0.95;0.917	B;P;B	0.45138	0.28;0.471;0.28	T	0.00000	-1.3148	9	0.72032	D	0.01	.	12.7937	0.57549	0.0:0.6867:0.3133:0.0	rs12731961;rs52797755;rs56556331;rs58840974;rs12731961	459;496;522	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	W	522;496;459	ENSP00000271971:R522W;ENSP00000346538:R496W;ENSP00000355626:R459W	ENSP00000271971:R522W	R	+	1	2	CAPN9	228989936	0.185000	0.23213	0.373000	0.26003	0.052000	0.14988	0.780000	0.26760	1.128000	0.42052	0.655000	0.94253	CGG	C|0.793;T|0.207		0.522	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		T	230923313	C	T	230923313	3	4	19	1	0	0	0	0	1	0	0	0	2639	759	27	1	1614	1	CAPN9	1	230923313	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	65210867	230923313	18327308	8	3674											
TTC13	79573	bcgsc.ca	37	chr1	231042732	231042732	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacgttggaaacgtttctgaTactgatggaagagtcttata	10	5	2	3	rs3811502	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:231042732T>A	ENST00000366661.4	-	23	2509	c.2502A>T	c.(2500-2502)gtA>gtT	p.V834V	TTC13_ENST00000414259.1_Silent_p.V781V|TTC13_ENST00000366662.4_Silent_p.V780V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	834										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACGTTTCTGATACTGATGGAA	0.358													T|||	2582	0.515575	0.4198	0.6556	5008	,	,		15841	0.5446		0.5338	False		,,,				2504	0.4969				p.V834V		.											.	TTC13-92	0			c.A2502T						.	T	,	1789,2617	528.6+/-372.4	353,1083,767	82	80	81		2340,2502	-2	0.9	1	dbSNP_107	81	4480,4120	589.4+/-392.5	1167,2146,987	no	coding-synonymous,coding-synonymous	TTC13	NM_001122835.2,NM_024525.4	,	1520,3229,1754	AA,AT,TT		47.907,40.6037,48.2008	,	780/807,834/861	231042732	6269,6737	2203	4300	6503	SO:0001819	synonymous_variant	79573	exon23			TTCTGATACTGAT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2502A>T	1.37:g.231042732T>A		Somatic	236	0		WXS	Illumina GAIIx	Phase_I	185	10	NM_024525	0	0	6	6	0	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	CCDS1588.1																																																																																			T|0.505;A|0.495		0.358	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		A	231042732	T	A	231042732	2	1	19	1	0	0	0	0	0	0	0	1	16729	1393	49	5		5	TTC13	1	231042732	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	119419	231042732	18207889	9	3675											
LGALS8	3964	bcgsc.ca	37	chr1	236702374	236702374	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagatcgtgattatggtgctGaaggacaaattccaggtagg	14	5	0	3	rs2472126	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr1:236702374G>A	ENST00000366584.4	+	4	896	c.330G>A	c.(328-330)ctG>ctA	p.L110L	LGALS8_ENST00000526589.1_Silent_p.L110L|LGALS8_ENST00000416919.2_Silent_p.L110L|LGALS8_ENST00000323938.6_Silent_p.L83L|LGALS8_ENST00000526634.1_Silent_p.L110L|LGALS8_ENST00000525042.1_Silent_p.L110L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000450372.2_Silent_p.L110L|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000352231.2_Silent_p.L110L|LGALS8_ENST00000341872.6_Silent_p.L110L|LGALS8_ENST00000527974.1_Silent_p.L110L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	110	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATGGTGCTGAAGGACAAAT	0.443													C|||	2170	0.433307	0.2738	0.464	5008	,	,		19869	0.4752		0.6173	False		,,,				2504	0.3947				p.L110L		.											.	LGALS8-91	0			c.G330A						.	C	,,,	1812,2594		309,1194,700	78	76	76		330,330,330,330	1.1	1	1	dbSNP_100	76	5551,3049		1747,2057,496	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	2056,3251,1196	AA,AG,GG		35.4535,41.1257,43.3877	,,,	110/360,110/318,110/318,110/360	236702374	7363,5643	2203	4300	6503	SO:0001819	synonymous_variant	3964	exon5			GGTGCTGAAGGAC	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.330G>A	1.37:g.236702374G>A		Somatic	252	3		WXS	Illumina GAIIx	Phase_I	193	8	NM_006499	0	0	11	11	0	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	CCDS1612.1																																																																																			A|0.527;C|0.006;G|0.466		0.443	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236702374	G	A	236702374	2	1	19	1	0	0	0	0	0	0	0	1	8776	1277	45	3		3	LGALS8	1	236702374	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	5659642	236702374	12548247	10	3676											
FAM179A	165186	bcgsc.ca	37	chr2	29256374	29256374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttccctctgccaaaggcCgcaaggtgttgaggagtctg	12	11	2	1	rs60403047	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:29256374C>T	ENST00000379558.4	+	16	2521	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	FAM179A_ENST00000403861.2_Missense_Mutation_p.R669C|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	724			R -> C (in dbSNP:rs60403047). {ECO:0000269|PubMed:14702039}.							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						TGCCAAAGGCCGCAAGGTGTT	0.512													C|||	402	0.0802716	0.0242	0.0692	5008	,	,		20339	0.1389		0.0974	False		,,,				2504	0.0859				p.R724C		.											.	FAM179A-26	0			c.C2170T						.	C	CYS/ARG	168,4238	112.1+/-150.2	3,162,2038	113	98	103		2170	2.7	0.7	2	dbSNP_129	103	763,7837	181.0+/-229.8	32,699,3569	yes	missense	FAM179A	NM_199280.2	180	35,861,5607	TT,TC,CC		8.8721,3.813,7.1582	benign	724/1020	29256374	931,12075	2203	4300	6503	SO:0001583	missense	165186	exon16			AAAGGCCGCAAGG	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.2170C>T	2.37:g.29256374C>T	ENSP00000368876:p.Arg724Cys	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_199280	0	0	1	1	0	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	205	0.09386446886446886	16	0.032520325203252036	25	0.06906077348066299	83	0.1451048951048951	81	0.10686015831134564	C	6.140	0.393956	0.11638	0.03813	0.088721	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861	T;T;T	0.24908	1.83;1.83;1.83	4.6	2.73	0.32206	Armadillo-type fold (1);	0.482216	0.19381	N	0.115661	T	0.00144	0.0004	M	0.69823	2.125	0.29716	P	0.839001	B;B;B	0.29037	0.231;0.002;0.231	B;B;B	0.24541	0.026;0.0;0.054	T	0.06232	-1.0838	9	0.52906	T	0.07	.	4.7427	0.13022	0.1687:0.6379:0.0:0.1934	rs60403047	669;724;22	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	C	159;724;669	ENSP00000384897:R159C;ENSP00000368876:R724C;ENSP00000384699:R669C	ENSP00000368876:R724C	R	+	1	0	FAM179A	29109878	0.004000	0.15560	0.653000	0.29593	0.023000	0.10783	0.030000	0.13688	0.463000	0.27118	-0.136000	0.14681	CGC	C|0.923;T|0.077		0.512	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29256374	C	T	29256374	3	4	19	1	0	0	0	0	1	0	0	0	5524	652	23	1	2228	1	FAM179A	2	29256374	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10		29256374	213942999	11	3677											
ZNF638	27332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	71650459	71650459	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaaaaaaatgaaactgtttCggaaatattgccatcaactt	6	6	1	2			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:71650459C>G	ENST00000409544.1	+	22	4445	c.3815C>G	c.(3814-3816)tCg>tGg	p.S1272W	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.S212W|ZNF638_ENST00000264447.4_Missense_Mutation_p.S1272W	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1272	Glu-rich.				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						GAAACTGTTTCGGAAATATTG	0.363																																					p.S1272W		.											.	ZNF638-94	0			c.C3815G						.						50	52	51					2																	71650459		2201	4300	6501	SO:0001583	missense	27332	exon22			CTGTTTCGGAAAT	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.3815C>G	2.37:g.71650459C>G	ENSP00000386433:p.Ser1272Trp	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	159	8	NM_014497	0	0	18	18	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059643	0.36373	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.36878	1.23;1.23;1.68	5.49	3.53	0.40419	.	0.630884	0.15682	N	0.249892	T	0.43765	0.1262	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.70716	0.97;0.911;0.97	T	0.37079	-0.9721	10	0.87932	D	0	-11.7252	8.4415	0.32818	0.1758:0.6546:0.1697:0.0	.	1272;1272;1272	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	W	851;1272;1272;212;212	ENSP00000264447:S1272W;ENSP00000386433:S1272W;ENSP00000386813:S212W	ENSP00000264447:S1272W	S	+	2	0	ZNF638	71503967	0.874000	0.30092	0.998000	0.56505	0.469000	0.32828	0.795000	0.26972	1.406000	0.46857	0.563000	0.77884	TCG	.		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		G	71650459	C	G	71650459	3	3	19	1	0	0	0	0	1	0	0	0	18103	893	31	2	3897	2	ZNF638	2	71650459	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	42394085	71650459	171548914	12	3678											
DYSF	8291	bcgsc.ca	37	chr2	71740958	71740958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccccaaggaaactaccTtcacgtcctccgccccacta	4	20	1	0	rs35392229	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:71740958T>C	ENST00000258104.3	+	6	847	c.570T>C	c.(568-570)ccT>ccC	p.P190P	DYSF_ENST00000409366.1_Silent_p.P191P|DYSF_ENST00000394120.2_Silent_p.P191P|DYSF_ENST00000409651.1_Silent_p.P222P|DYSF_ENST00000410020.3_Silent_p.P222P|DYSF_ENST00000410041.1_Silent_p.P222P|DYSF_ENST00000409582.3_Silent_p.P221P|DYSF_ENST00000413539.2_Silent_p.P221P|DYSF_ENST00000429174.2_Silent_p.P190P|DYSF_ENST00000409744.1_Silent_p.P191P|DYSF_ENST00000409762.1_Silent_p.P221P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	190					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAACTACCTTCACGTCCTC	0.577													T|||	89	0.0177716	0.0023	0.036	5008	,	,		15621	0		0.0537	False		,,,				2504	0.0072				p.P222P		.											.	DYSF-158	0			c.T666C						.	T	,,,,,,,,,,,,,	27,4379	32.6+/-62.9	0,27,2176	61	63	62		573,570,570,570,663,663,663,666,573,573,666,573,666,570	0.7	0.6	2	dbSNP_126	62	334,8266	115.3+/-175.2	10,314,3976	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	10,341,6152	CC,CT,TT		3.8837,0.6128,2.7756	,,,,,,,,,,,,,	191/2082,190/2067,190/2088,190/2102,221/2112,221/2098,221/2119,222/2113,191/2103,191/2089,222/2099,191/2068,222/2120,190/2081	71740958	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	8291	exon7			ACTACCTTCACGT	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.570T>C	2.37:g.71740958T>C		Somatic	167	3		WXS	Illumina GAIIx	Phase_I	125	7	NM_001130982	0	0	0	0	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																			T|0.971;C|0.029		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		C	71740958	T	C	71740958	2	2	19	1	0	0	0	0	0	0	0	1	4873	1596	56	4		4	DYSF	2	71740958	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	90499	71740958	171458415	13	3679											
RGPD4	285190	broad.mit.edu	37	chr2	108496435	108496435	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcagagcctccattaTggcatgctgaatttaccaaa	8	9	0	2	rs832352	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:108496435T>A	ENST00000408999.3	+	21	5013	c.4936T>A	c.(4936-4938)Tgg>Agg	p.W1646R	RGPD4_ENST00000354986.4_Missense_Mutation_p.W1646R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1646					protein targeting to Golgi (GO:0000042)			p.W1646R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCTCCATTATGGCATGCTGA	0.358													t|||	2779	0.554912	0.5204	0.4914	5008	,	,		18442	0.3472		0.7008	False		,,,				2504	0.7106				p.W1646R		.											.	RGPD4-2	1	Substitution - Missense(1)	kidney(1)	c.T4936A						.						42	36	38					2																	108496435		692	1578	2270	SO:0001583	missense	285190	exon21			CCATTATGGCATG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4936T>A	2.37:g.108496435T>A	ENSP00000386810:p.Trp1646Arg	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	208	5	NM_182588	0	0	2	2	0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	1139	0.5215201465201466	247	0.5020325203252033	187	0.5165745856353591	197	0.34440559440559443	508	0.6701846965699209	t	10.26	1.301807	0.23736	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42513	0.97;0.97	0.854	0.854	0.19007	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.36921	P	0.10862300000000003	D	0.64830	0.994	D	0.67725	0.953	T	0.35176	-0.9799	8	0.21540	T	0.41	-0.4067	7.1387	0.25543	0.0:0.0:0.0:1.0	rs832352;rs3820958	1646	Q7Z3J3	RGPD4_HUMAN	R	1646;1646;1013	ENSP00000347081:W1646R;ENSP00000386810:W1646R	ENSP00000347081:W1646R	W	+	1	0	RGPD4	107862867	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	3.939000	0.56591	0.641000	0.30601	0.327000	0.21459	TGG	T|0.295;A|0.705		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108496435	T	A	108496435	3	1	19	1	0	0	0	0	1	0	0	0	13333	1464	51	5	5018	5	RGPD4	2	108496435	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	36755477	108496435	134702938	14	3680											
ESPNL	339768	hgsc.bcm.edu	37	chr2	239009336	239009336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggctggtccgcgaGgggggctgcggtctgcaggt	20	10	1	0	rs61744770	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr2:239009336G>A	ENST00000343063.3	+	1	539	c.276G>A	c.(274-276)gaG>gaA	p.E92E	ESPNL_ENST00000409169.1_Silent_p.E92E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	92										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGTCCGCGAGGGGGGCTGCG	0.721													G|||	1076	0.214856	0.0325	0.3012	5008	,	,		12159	0.1359		0.4761	False		,,,				2504	0.2127				p.E92E		.											.	ESPNL-69	0			c.G276A						.	G		217,3027		15,187,1420	2	3	3		276	-8.2	0	2	dbSNP_129	3	2420,4680		417,1586,1547	no	coding-synonymous	ESPNL	NM_194312.2		432,1773,2967	AA,AG,GG		34.0845,6.6893,25.493		92/1006	239009336	2637,7707	1622	3550	5172	SO:0001819	synonymous_variant	339768	exon1			CCGCGAGGGGGGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.276G>A	2.37:g.239009336G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_194312	0	0	0	0	0	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.739;A|0.261		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239009336	G	A	239009336	2	1	19	1	0	0	0	0	0	0	0	1	5271	991	35	3		3	ESPNL	2	239009336	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	130512901	239009336	4190037	15	3681											
VILL	50853	bcgsc.ca	37	chr3	38038982	38038982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccgcaggggctggcTttgacctacagcctccggga	12	16	1	1	rs6809649	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:38038982T>C	ENST00000283713.6	+	7	836	c.570T>C	c.(568-570)gcT>gcC	p.A190A	VILL_ENST00000383759.2_Silent_p.A190A|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	190					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGGCTGGCTTTGACCTACA	0.607													C|||	1182	0.236022	0.4304	0.1398	5008	,	,		18461	0.0863		0.1441	False		,,,				2504	0.2904				p.A190A		.											.	VILL-90	0			c.T570C						.	C		1760,2646	641.1+/-397.4	346,1068,789	62	61	61		570	3.5	0.7	3	dbSNP_116	61	1488,7112	747.8+/-407.3	125,1238,2937	no	coding-synonymous	VILL	NM_015873.3		471,2306,3726	CC,CT,TT		17.3023,39.9455,24.9731		190/857	38038982	3248,9758	2203	4300	6503	SO:0001819	synonymous_variant	50853	exon6			GCTGGCTTTGACC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.570T>C	3.37:g.38038982T>C		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	119	5	NM_015873	0	0	0	0	0	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			T|0.768;C|0.232		0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		C	38038982	T	C	38038982	2	2	19	1	0	0	0	0	0	0	0	1	17214	1596	56	4		4	VILL	3	38038982	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10		38038982	159983448	16	3682											
COL6A6	131873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	130361853	130361853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtgagctcattcagtatgTgcgagaccgcagtcgtaagt	12	8	2	2			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:130361853T>A	ENST00000358511.6	+	30	5244	c.5213T>A	c.(5212-5214)gTg>gAg	p.V1738E	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1738E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1738	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						ATTCAGTATGTGCGAGACCGC	0.378																																					p.V1738E		.											.	COL6A6-76	0			c.T5213A						.						122	106	111					3																	130361853		1878	4114	5992	SO:0001583	missense	131873	exon30			AGTATGTGCGAGA	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.5213T>A	3.37:g.130361853T>A	ENSP00000351310:p.Val1738Glu	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	111	39	NM_001102608	0	0	0	0	0	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065102	0.76187	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90324	-2.63;-2.65	5.77	5.77	0.91146	.	.	.	.	.	D	0.91646	0.7360	L	0.42245	1.32	0.37589	D	0.92012	D	0.89917	1.0	D	0.71870	0.975	D	0.90529	0.4494	9	0.25106	T	0.35	.	9.8229	0.40894	0.0:0.0786:0.0:0.9214	.	1738	A6NMZ7	CO6A6_HUMAN	E	1738	ENSP00000351310:V1738E;ENSP00000399236:V1738E	ENSP00000351310:V1738E	V	+	2	0	COL6A6	131844543	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	2.734000	0.47368	2.200000	0.70718	0.459000	0.35465	GTG	.		0.378	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130361853	T	A	130361853	3	1	19	1	0	0	0	0	1	0	0	0	3710	1696	59	5	5331	5	COL6A6	3	130361853	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	92322871	130361853	67660577	17	3683											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	9	NM_014779	0	0	1	1	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	19	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	19766539	150128392	47894038	18	3684											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228472	4228472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccggggggccggggaTtccggggacctcggggccga	20	15	0	0	rs76810534		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	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)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3	4	4					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	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.120A>G	4.37:g.4228472T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	35	8	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228472	T	C	4228472	2	2	19	1	0	0	0	0	0	0	0	1	11344	1490	52	4		4	OTOP1	4	4228472	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10		4228472	186925804	19	3685											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	19	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	44263962	48492434	142661842	20	3686											
KIAA1211	57482	hgsc.bcm.edu	37	chr4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAG													gcgccaggttgggaggacgcINSggagcggagggagcgtgagg					rs71921617|rs138358443|rs11276076	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:57180576_57180577insGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGggag	p.307_308insRRE	KIAA1211_ENST00000264229.6_In_Frame_Ins_p.307_308insRRE|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.300_301insRRE			Q6ZU35	K1211_HUMAN	KIAA1211	307	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733																																					p.A303delinsAERR		.											.	KIAA1211-70	0			c.908_909insGGAGCGGAG						.																																			SO:0001652	inframe_insertion	57482	exon8			AGGACGCGGAGCG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.909_917dupGGAGCGGAG	4.37:g.57180577_57180585dupGGAGCGGAG	ENSP00000423366:p.Arg305_Glu307dup	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	31	20	NM_020722	0	0	0	0	0	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	CCDS43230.1																																																																																			.		0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		GGAGCGGAG	57180577	-	GGAGCGGAG	57180576	7	5	19	1	0	1	1	0	0	0	0	0	8242	768	27	0	926	0	KIAA1211	4	57180576	In_Frame_Ins	INS	-	TCGA-OR-A5JQ-01A-11D-A29I-10	8688142	57180576	133973700	21	3687											
DSPP	1834	bcgsc.ca	37	chr4	88536520	88536520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagcagcaacagcagtgaTagtgacagcagtgatagcag	13	7	0	3	rs62651554	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr4:88536520T>C	ENST00000282478.7	+	4	2739	c.2706T>C	c.(2704-2706)gaT>gaC	p.D902D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D902D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	902	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)		acagcagtgatagtgacagca	0.478													t|||	1630	0.325479	0.2352	0.4179	5008	,	,		33602	0.2867		0.3519	False		,,,				2504	0.3947				p.D902D		.											.	DSPP-90	0			c.T2706C						.			883,2419		145,593,913	82	96	91		2706	-0.5	0	4	dbSNP_132	91	2213,3715		456,1301,1207	no	coding-synonymous	DSPP	NM_014208.3		601,1894,2120	CC,CT,TT		37.3313,26.7414,33.5428		902/1302	88536520	3096,6134	1651	2964	4615	SO:0001819	synonymous_variant	1834	exon5			CAGTGATAGTGAC	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.2706T>C	4.37:g.88536520T>C		Somatic	873	15		WXS	Illumina GAIIx	Phase_I	928	24	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			T|0.673;C|0.327		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88536520	T	C	88536520	2	2	19	1	0	0	0	0	0	0	0	1	4796	1403	49	4		4	DSPP	4	88536520	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	31355944	88536520	102617756	22	3688											
SFRS12IP1	285672	ucsc.edu	37	chr5	64023981	64023981	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttctttgcttttttctttCttcttttcctcttcttcatt	1	10	7	0	rs275819	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:64023981C>T	ENST00000513458.4	-	4	398	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	77	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						ttttttctttcttcttttcct	0.279													T|||	3237	0.646366	0.9259	0.5865	5008	,	,		11938	0.5288		0.5288	False		,,,				2504	0.5532				p.K77K		.											.	SREK1IP1-23	0			c.G231A						.	T		3761,547		1670,421,63	18	21	20		231	2.2	1	5	dbSNP_79	20	4331,4133		1170,1991,1071	no	coding-synonymous	SREK1IP1	NM_173829.3		2840,2412,1134	TT,TC,CC		48.8303,12.6973,36.6427		77/156	64023981	8092,4680	2154	4232	6386	SO:0001819	synonymous_variant	285672	exon4			TTCTTTCTTCTTT	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.231G>A	5.37:g.64023981C>T		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	24	6	NM_173829	0	0	8	16	8	Q32NC8	Silent	SNP	ENST00000513458.4	37	CCDS34171.1																																																																																			T|0.623;C|0.377		0.279	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		T	64023981	C	T	64023981	2	4	19	1	0	0	0	0	0	0	0	1	14213	912	32	3		3	SFRS12IP1	5	64023981	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10		64023981	116891279	23	3689											
ABLIM3	22885	broad.mit.edu	37	chr5	148637920	148637920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctgagtttgaccggctgGccctctggaagaggaatgaa	13	9	2	4			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:148637920G>T	ENST00000506113.1	+	23	2487	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.A155S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.A574S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.A669S|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.A636S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	669	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.A669S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGGCTGGCCCTCTGGAA	0.502																																					p.A669S		.											.	ABLIM3-93	2	Substitution - Missense(2)	endometrium(2)	c.G2005T						.						58	57	57					5																	148637920		2203	4300	6503	SO:0001583	missense	22885	exon24			CGGCTGGCCCTCT	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.2005G>T	5.37:g.148637920G>T	ENSP00000425394:p.Ala669Ser	Somatic	51	1		WXS	Illumina GAIIx	Phase_I	52	4	NM_014945	0	0	3	3	0	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329622	0.95733	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T	0.56444	0.46;0.51;0.51;0.52;0.88	5.86	5.86	0.93980	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.997;0.987;0.999	T	0.62779	-0.6782	10	0.46703	T	0.11	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	155;574;669	O94929-4;O94929-3;O94929	.;.;ABLM3_HUMAN	S	574;669;669;636;155;154	ENSP00000315841:A574S;ENSP00000310309:A669S;ENSP00000425394:A669S;ENSP00000420855:A636S;ENSP00000430150:A155S	ENSP00000310309:A669S	A	+	1	0	ABLIM3	148618113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.859000	0.99545	2.783000	0.95769	0.542000	0.68232	GCC	.		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		T	148637920	G	T	148637920	3	4	19	1	0	0	0	0	1	0	0	0	96	1203	42	3	2095	3	ABLIM3	5	148637920	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	84613939	148637920	32277340	24	3690											
CDHR2	54825	bcgsc.ca	37	chr5	176011889	176011889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctggttctcagtggcGgccaacggctctgtgtacat	15	10	2	0	rs4868660	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr5:176011889G>A	ENST00000510636.1	+	19	2881	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	CDHR2_ENST00000506348.1_Silent_p.A869A|CDHR2_ENST00000261944.5_Silent_p.A869A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	869	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCAGTGGCGGCCAACGGCT	0.607													G|||	1023	0.204273	0.1021	0.402	5008	,	,		19243	0.0278		0.4145	False		,,,				2504	0.1677				p.A869A		.											.	CDHR2-70	0			c.G2607A						.	G	,	707,3699	291.3+/-281.4	53,601,1549	64	53	57		2607,2607	-1.2	0	5	dbSNP_111	57	3675,4925	519.3+/-379.4	779,2117,1404	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	832,2718,2953	AA,AG,GG		42.7326,16.0463,33.6921	,	869/1311,869/1311	176011889	4382,8624	2203	4300	6503	SO:0001819	synonymous_variant	54825	exon19			AGTGGCGGCCAAC	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2607G>A	5.37:g.176011889G>A		Somatic	187	2		WXS	Illumina GAIIx	Phase_I	229	11	NM_017675	0	0	2	2	0	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			G|0.726;A|0.274		0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176011889	G	A	176011889	2	1	19	1	0	0	0	0	0	0	0	1	3126	1103	39	1		1	CDHR2	5	176011889	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	27373969	176011889	4903371	25	3691											
HUS1B	135458	hgsc.bcm.edu	37	chr6	656555	656555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacccgcacgggcagatcGtgcaccacgctgcgagcgcg	14	16	0	1	rs1766848	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:656555G>T	ENST00000380907.2	-	1	408	c.390C>A	c.(388-390)caC>caA	p.H130Q	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	130			H -> Q (in dbSNP:rs1766848).		DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CGGGCAGATCGTGCACCACGC	0.731													G|||	327	0.0652955	0.0121	0.1297	5008	,	,		14786	0.0694		0.0964	False		,,,				2504	0.0552				p.H130Q		.											.	HUS1B-227	0			c.C390A						.	G	,GLN/HIS	83,4301		0,83,2109	17	21	20		,390	-2.9	0	6	dbSNP_89	20	799,7759		33,733,3513	yes	intron,missense	EXOC2,HUS1B	NM_018303.4,NM_148959.3	,24	33,816,5622	TT,TG,GG		9.3363,1.8932,6.815	,possibly-damaging	,130/279	656555	882,12060	2192	4279	6471	SO:0001583	missense	135458	exon1			CAGATCGTGCACC	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.390C>A	6.37:g.656555G>T	ENSP00000370293:p.His130Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_148959	0	0	0	0	0	Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	CCDS4470.1	135	0.061813186813186816	10	0.02032520325203252	29	0.08011049723756906	26	0.045454545454545456	70	0.09234828496042216	G	13.85	2.361073	0.41801	0.018932	0.093363	ENSG00000188996	ENST00000380907	T	0.11821	2.74	3.44	-2.93	0.05598	.	0.000000	0.85682	U	0.000000	T	0.09862	0.0242	M	0.62154	1.92	0.46028	P	0.0011719999999999509	D	0.76494	0.999	D	0.74023	0.982	T	0.23048	-1.0199	9	0.06365	T	0.9	.	8.8272	0.35063	0.6959:0.0:0.3041:0.0	rs1766848;rs17236996;rs61178836;rs1766848	130	Q8NHY5	HUS1B_HUMAN	Q	130	ENSP00000370293:H130Q	ENSP00000370293:H130Q	H	-	3	2	HUS1B	601555	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.096000	0.11059	-0.638000	0.05509	-0.258000	0.10820	CAC	G|0.938;T|0.062		0.731	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		T	656555	G	T	656555	3	4	19	1	0	0	0	0	1	0	0	0	7487	1136	40	2	450	2	HUS1B	6	656555	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		656555	170458512	26	3692											
OR2J3	442186	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	29079940	29079940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcaatctctggggcccGgaaaagaccatctcttatgc	10	12	3	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:29079940G>A	ENST00000377169.1	+	1	273	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P91P(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGGGGCCCGGAAAAGACCA	0.483																																					p.P91P		.											.	OR2J3-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A						.						189	196	194					6																	29079940		1251	2558	3809	SO:0001819	synonymous_variant	442186	exon1			GGGCCCGGAAAAG		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.273G>A	6.37:g.29079940G>A		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	130	12	NM_001005216	0	0	0	0	0	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	CCDS43433.1																																																																																			.		0.483	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			A	29079940	G	A	29079940	2	1	19	1	0	0	0	0	0	0	0	1	11043	1103	39	1		1	OR2J3	6	29079940	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	28423385	29079940	142035127	27	3693											
TMEM30A	55754	bcgsc.ca	37	chr6	75994151	75994151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgttggaggtgacaaaAatgccaatgccgatgggaat	13	5	0	1	rs240374	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr6:75994151A>G	ENST00000230461.6	-	1	533	c.204T>C	c.(202-204)atT>atC	p.I68I	RP1-234P15.4_ENST00000607221.1_lincRNA|TMEM30A_ENST00000475111.2_Silent_p.I68I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	68					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGACAAAAATGCCAATGC	0.582													G|||	749	0.149561	0.3502	0.0937	5008	,	,		16318	0.1062		0.0835	False		,,,				2504	0.0307				p.I68I		.											.	TMEM30A-90	0			c.T204C						.	G	,	1503,2903	674.8+/-403.0	255,993,955	77	65	69		204,204	2.1	1	6	dbSNP_79	69	760,7840	785.0+/-407.6	32,696,3572	no	coding-synonymous,coding-synonymous	TMEM30A	NM_001143958.1,NM_018247.3	,	287,1689,4527	GG,GA,AA		8.8372,34.1126,17.3997	,	68/326,68/362	75994151	2263,10743	2203	4300	6503	SO:0001819	synonymous_variant	55754	exon1			GACAAAAATGCCA	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.204T>C	6.37:g.75994151A>G		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	92	5	NM_001143958	0	0	30	30	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	CCDS4983.1																																																																																			A|0.828;G|0.172		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		G	75994151	A	G	75994151	2	3	19	1	0	0	0	0	0	0	0	1	16200	10	1	4		4	TMEM30A	6	75994151	Silent	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	46914211	75994151	95120916	28	3694											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_002047	0	0	0	12	12	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	19	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10		30634661	128504002	29	3695											
MYO1G	64005	bcgsc.ca	37	chr7	45004063	45004063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaagccatctttgtccTgaagtgtctttagtcgctga	9	12	2	2	rs7792760	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:45004063T>C	ENST00000258787.7	-	19	2718	c.2582A>G	c.(2581-2583)cAg>cGg	p.Q861R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	861	Myosin tail. {ECO:0000255}.		Q -> R (in dbSNP:rs7792760). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.			extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATCTTTGTCCTGAAGTGTCTT	0.542													C|||	4515	0.901558	0.9841	0.8588	5008	,	,		18064	0.8938		0.8489	False		,,,				2504	0.8824				p.Q861R		.											.	MYO1G-137	0			c.A2582G						.	C	ARG/GLN	4245,161	109.1+/-147.4	2044,157,2	96	92	93		2582	-0.4	0	7	dbSNP_116	93	7240,1360	266.1+/-286.5	3050,1140,110	yes	missense	MYO1G	NM_033054.2	43	5094,1297,112	CC,CT,TT		15.814,3.6541,11.6946	benign	861/1019	45004063	11485,1521	2203	4300	6503	SO:0001583	missense	64005	exon19			TTGTCCTGAAGTG	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2582A>G	7.37:g.45004063T>C	ENSP00000258787:p.Gln861Arg	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	116	5	NM_033054	0	0	5	5	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	1953	0.8942307692307693	485	0.9857723577235772	307	0.8480662983425414	522	0.9125874125874126	639	0.8430079155672823	C	0.005	-2.126850	0.00342	0.963459	0.84186	ENSG00000136286	ENST00000258787	D	0.86694	-2.16	3.57	-0.409	0.12378	Myosin tail 2 (1);	0.559988	0.13491	N	0.383960	T	0.00012	0.0000	N	0.00677	-1.265	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34925	-0.9809	9	0.09338	T	0.73	.	9.2934	0.37800	0.0:0.4565:0.0:0.5435	rs7792760;rs17491353;rs56969110;rs7792760	861	B0I1T2	MYO1G_HUMAN	R	861	ENSP00000258787:Q861R	ENSP00000258787:Q861R	Q	-	2	0	MYO1G	44970588	0.055000	0.20627	0.010000	0.14722	0.051000	0.14879	0.372000	0.20467	-0.232000	0.09811	-2.820000	0.00109	CAG	C|0.890;N|0.000		0.542	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			C	45004063	T	C	45004063	3	2	19	1	0	0	0	0	1	0	0	0	10112	1580	55	4	490	4	MYO1G	7	45004063	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	14369402	45004063	114134600	30	3696											
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	117242878	117242878	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtcttgttccattccAggtggctgcttctttggttg	11	9	2	0			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:117242878A>T	ENST00000003084.6	+	16	2751		c.e16-1		CFTR_ENST00000454343.1_Splice_Site|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						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)	GTTCCATTCCAGGTGGCTGCT	0.383									Cystic Fibrosis																												.		.											.	CFTR-518	0			c.2620-2A>T						.						404	356	372					7																	117242878		2203	4300	6503	SO:0001630	splice_region_variant	1080	exon16	Familial Cancer Database	CF	CATTCCAGGTGGC	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.2620-1A>T	7.37:g.117242878A>T		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	213	13	NM_000492	0	0	0	0	0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537515	0.45176	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1087	0.65109	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFTR	117030114	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	5.418000	0.66429	2.254000	0.74563	0.528000	0.53228	.	.		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Intron	T	117242878	A	T	117242878	5	4	19	1	0	0	0	0	0	0	1	0	3301	202	7	5	2680	5	CFTR	7	117242878	Splice_Site	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	72238815	117242878	41895785	31	3697											
EPHA1	2041	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	143098587	143098587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaagcctcctccccgcGgtagatccaattggagcgaa	13	13	0	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr7:143098587G>T	ENST00000275815.3	-	3	348	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCTCCCCGCGGTAGATCCAA	0.612																																					p.R88S		.											.	EPHA1-1436	0			c.C262A						.						141	134	136					7																	143098587		2203	4300	6503	SO:0001583	missense	2041	exon3			CCCCGCGGTAGAT	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.262C>A	7.37:g.143098587G>T	ENSP00000275815:p.Arg88Ser	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	169	21	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138035	0.94517	.	.	ENSG00000146904	ENST00000275815	T	0.04083	3.71	4.99	4.99	0.66335	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000059	T	0.25717	0.0626	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01666	-1.1300	10	0.87932	D	0	.	18.4741	0.90785	0.0:0.0:1.0:0.0	.	88	P21709	EPHA1_HUMAN	S	88	ENSP00000275815:R88S	ENSP00000275815:R88S	R	-	1	0	EPHA1	142808709	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.325000	0.72901	2.597000	0.87782	0.643000	0.83706	CGC	.		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143098587	G	T	143098587	3	4	19	1	0	0	0	0	1	0	0	0	5181	1116	39	2	2732	2	EPHA1	7	143098587	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	25855709	143098587	16040076	32	3698											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	10	NM_194284	0	0	0	5	5	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	19	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		8560536	137803486	33	3699											
ADAMDEC1	27299	bcgsc.ca	37	chr8	24261526	24261526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgaaggagtgtaccaAtctctgctgtgaagccctaa	10	9	1	2	rs3765124	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:24261526A>G	ENST00000256412.4	+	13	1551	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N365S|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.N365S	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	444	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.		N -> S (in dbSNP:rs3765124).		immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAGTGTACCAATCTCTGCTGT	0.438													A|||	1477	0.294928	0.0968	0.4553	5008	,	,		17229	0.2044		0.4284	False		,,,				2504	0.4049				p.N444S	Ovarian(147;687 1849 3699 25981 31337)	.											.	ADAMDEC1-228	0			c.A1331G						.	A	SER/ASN,SER/ASN,SER/ASN	677,3729	287.8+/-279.5	52,573,1578	218	186	197		1094,1094,1331	0.4	0	8	dbSNP_107	197	3804,4796	537.9+/-383.3	833,2138,1329	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	46,46,46	885,2711,2907	GG,GA,AA		44.2326,15.3654,34.4533	benign,benign,benign	365/392,365/392,444/471	24261526	4481,8525	2203	4300	6503	SO:0001583	missense	27299	exon13			GTACCAATCTCTG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1331A>G	8.37:g.24261526A>G	ENSP00000256412:p.Asn444Ser	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	222	6	NM_014479	0	0	0	0	0	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	643	0.2944139194139194	44	0.08943089430894309	152	0.4198895027624309	120	0.2097902097902098	327	0.4313984168865435	A	9.564	1.119311	0.20877	0.153654	0.442326	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.11604	2.76;2.76;2.76	5.6	0.414	0.16406	Blood coagulation inhibitor, Disintegrin (3);	0.558036	0.18286	N	0.145891	T	0.00012	0.0000	L	0.48986	1.54	0.80722	P	0.0	P	0.49862	0.929	P	0.44696	0.458	T	0.48603	-0.9021	9	0.22706	T	0.39	-7.4265	8.0431	0.30534	0.6671:0.0:0.3329:0.0	rs3765124;rs17737352;rs52806941;rs59180631;rs3765124	444	O15204	ADEC1_HUMAN	S	444;365;365	ENSP00000256412:N444S;ENSP00000442592:N365S;ENSP00000428993:N365S	ENSP00000256412:N444S	N	+	2	0	ADAMDEC1	24317471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.317000	0.19487	-0.144000	0.11314	-0.388000	0.06559	AAT	A|0.687;G|0.313		0.438	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		G	24261526	A	G	24261526	3	3	19	1	0	0	0	0	1	0	0	0	254	101	4	4	1381	4	ADAMDEC1	8	24261526	Missense_Mutation	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	15700990	24261526	122102496	34	3700											
CSMD3	114788	bcgsc.ca	37	chr8	113418839	113418839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggatccatggagaataTatcctggattacaatcaaaa	7	7	1	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:113418839T>C	ENST00000297405.5	-	35	5967	c.5723A>G	c.(5722-5724)tAt>tGt	p.Y1908C	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1804C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1838C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1868C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1908	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGAGAATATATCCTGGATT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.Y1908C		.											.	CSMD3-1132	0			c.A5723G						.						119	116	117					8																	113418839		2203	4300	6503	SO:0001583	missense	114788	exon35			AGAATATATCCTG	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.5723A>G	8.37:g.113418839T>C	ENSP00000297405:p.Tyr1908Cys	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129243	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000004	T	0.78597	0.4308	H	0.98721	4.31	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.97110	0.959;0.895;1.0	D	0.87553	0.2466	10	0.87932	D	0	.	15.0021	0.71483	0.0:0.0:0.0:1.0	.	1804;1908;1868	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1868;1908;1178;1804;1838	ENSP00000345799:Y1868C;ENSP00000297405:Y1908C;ENSP00000341558:Y1178C;ENSP00000412263:Y1804C;ENSP00000343124:Y1838C	ENSP00000297405:Y1908C	Y	-	2	0	CSMD3	113488015	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.825000	0.86693	2.198000	0.70561	0.533000	0.62120	TAT	.		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113418839	T	C	113418839	3	2	19	1	0	0	0	0	1	0	0	0	3955	1406	49	4	5548	4	CSMD3	8	113418839	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	89157313	113418839	32945183	35	3701											
SCRIB	23513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144892937	144892937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacgctgacgcggctcggCggggcatcgctccaggtctc	15	14	1	2			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr8:144892937C>A	ENST00000320476.3	-	12	1329	c.1323G>T	c.(1321-1323)ccG>ccT	p.P441P	SCRIB_ENST00000356994.2_Silent_p.P441P|SCRIB_ENST00000377533.3_Silent_p.P360P|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	441	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)			CGCGGCTCGGCGGGGCATCGC	0.647																																					p.P441P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.G1323T						.						47	46	46					8																	144892937		2202	4300	6502	SO:0001819	synonymous_variant	23513	exon12			GCTCGGCGGGGCA	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.1323G>T	8.37:g.144892937C>A		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	50	19	NM_015356	0	0	3	9	6	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1																																																																																			.		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144892937	C	A	144892937	2	1	19	1	0	0	0	0	0	0	0	1	13982	755	27	2		2	SCRIB	8	144892937	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	31474098	144892937	1471085	36	3702											
ABCA1	19	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	107568702	107568702	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctcccctgcctggcaGggcgtgtctctgcaaaggga	12	14	2	0			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:107568702G>C	ENST00000374736.3	-	31	4678	c.4284C>G	c.(4282-4284)ccC>ccG	p.P1428P		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1428					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGCCTGGCAGGGCGTGTCTC	0.557																																					p.P1428P		.											.	ABCA1-1016	0			c.C4284G						.						90	70	77					9																	107568702		2203	4300	6503	SO:0001819	synonymous_variant	19	exon31			CTGGCAGGGCGTG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4284C>G	9.37:g.107568702G>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	113	37	NM_005502	0	0	0	0	0	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																			.		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107568702	G	C	107568702	2	2	19	1	0	0	0	0	0	0	0	1	28	987	35	3		3	ABCA1	9	107568702	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		107568702	33644729	37	3703											
FAM125B	89853	bcgsc.ca	37	chr9	129102840	129102840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagccttgccagaaacGtcaatggatcccatcacggg	10	12	3	2	rs1888156	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:129102840G>A	ENST00000361171.3	+	2	216	c.135G>A	c.(133-135)acG>acA	p.T45T	MVB12B_ENST00000545391.1_Silent_p.T45T|MVB12B_ENST00000436593.3_Silent_p.T30T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	45					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										TGCCAGAAACGTCAATGGATC	0.478													G|||	1577	0.314896	0.3858	0.3026	5008	,	,		21217	0.2897		0.2903	False		,,,				2504	0.2791				p.T45T		.											.	.	0			c.G135A						.	G	,	1566,2840	491.0+/-362.0	267,1032,904	107	100	103		135,135	-3	0	9	dbSNP_92	103	2762,5838	439.3+/-359.2	447,1868,1985	no	coding-synonymous,coding-synonymous	FAM125B	NM_001011703.2,NM_033446.2	,	714,2900,2889	AA,AG,GG		32.1163,35.5424,33.2769	,	45/222,45/320	129102840	4328,8678	2203	4300	6503	SO:0001819	synonymous_variant	89853	exon2			AGAAACGTCAATG	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.135G>A	9.37:g.129102840G>A		Somatic	284	0		WXS	Illumina GAIIx	Phase_I	291	7	NM_001011703	0	0	1	1	0	Q8N6S7	Silent	SNP	ENST00000361171.3	37	CCDS35142.1																																																																																			G|0.676;A|0.324		0.478	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		A	129102840	G	A	129102840	2	1	19	1	0	0	0	0	0	0	0	1	5447	1132	40	1		1	FAM125B	9	129102840	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	21534138	129102840	12110591	38	3704											
GLE1	2733	hgsc.bcm.edu	37	chr9	131303399	131303399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaatgtttgcaacacaagGacattcctgtccccaagggc	9	11	0	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:131303399G>T	ENST00000309971.4	+	16	2153	c.2047G>T	c.(2047-2049)Gac>Tac	p.D683Y	GLE1_ENST00000539582.1_Missense_Mutation_p.D429Y|RNU7-171P_ENST00000459581.1_RNA|RP11-216B9.6_ENST00000426704.1_RNA|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	683	Interaction with NUPL2.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GCAACACAAGGACATTCCTGT	0.448																																					p.D683Y		.											.	GLE1-22	0			c.G2047T						.						144	131	136					9																	131303399		2203	4300	6503	SO:0001583	missense	2733	exon16			CACAAGGACATTC	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.2047G>T	9.37:g.131303399G>T	ENSP00000308622:p.Asp683Tyr	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	80	5	NM_001003722	0	0	28	28	0	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175366	0.57692	.	.	ENSG00000119392	ENST00000309971;ENST00000539582	T;T	0.76968	-0.07;-1.06	5.94	5.94	0.96194	.	0.478848	0.25590	N	0.029639	T	0.70613	0.3244	N	0.22421	0.69	0.39480	D	0.967866	B	0.22346	0.068	B	0.24701	0.055	T	0.67738	-0.5593	10	0.72032	D	0.01	-19.7302	19.3475	0.94370	0.0:0.0:1.0:0.0	.	683	Q53GS7	GLE1_HUMAN	Y	683;429	ENSP00000308622:D683Y;ENSP00000438670:D429Y	ENSP00000308622:D683Y	D	+	1	0	GLE1	130343220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.174000	0.65015	2.816000	0.96949	0.563000	0.77884	GAC	.		0.448	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		T	131303399	G	T	131303399	3	4	19	1	0	0	0	0	1	0	0	0	6461	1174	41	3	2125	3	GLE1	9	131303399	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	2200559	131303399	9910032	39	3705											
VAV2	7410	bcgsc.ca	37	chr9	136650966	136650966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaaaaactggaagccCtgctttccttgaaggtgaat	10	8	0	3	rs142033790	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:136650966C>T	ENST00000371850.3	-	17	1495	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	VAV2_ENST00000371851.1_Silent_p.Q478Q|VAV2_ENST00000406606.3_Silent_p.Q478Q	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	488	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACTGGAAGCCCTGCTTTCCTT	0.537													C|||	65	0.0129792	8e-04	0.0389	5008	,	,		22924	0		0.001	False		,,,				2504	0.0368				p.Q488Q		.											.	VAV2-1273	0			c.G1464A						.	C	,	12,4394	20.2+/-43.8	0,12,2191	73	62	66		1464,1434	-0.9	1	9	dbSNP_134	66	33,8567	22.2+/-67.0	0,33,4267	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,45,6458	TT,TC,CC		0.3837,0.2724,0.346	,	488/879,478/840	136650966	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	7410	exon17			GAAGCCCTGCTTT		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1464G>A	9.37:g.136650966C>T		Somatic	107	1		WXS	Illumina GAIIx	Phase_I	97	5	NM_001134398	0	0	6	6	0	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	CCDS48053.1																																																																																			C|0.995;T|0.005		0.537	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			T	136650966	C	T	136650966	2	4	19	1	0	0	0	0	0	0	0	1	17181	680	24	3		3	VAV2	9	136650966	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	5347567	136650966	4562465	40	3706											
SLC34A3	142680	hgsc.bcm.edu	37	chr9	140128914	140128914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggctacctggccgtcctCgcgggcgccggcctgacctt	15	17	0	1	rs113568956	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr9:140128914C>T	ENST00000538474.1	+	11	1364	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SLC34A3_ENST00000361134.2_Silent_p.L380L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	380					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGTCCTCGCGGGCGCCG	0.716													C|||	8	0.00159744	8e-04	0	5008	,	,		10094	0		0.007	False		,,,				2504	0				p.L380L		.											.	SLC34A3-90	0			c.C1140T						.	C	,,	1,4237		0,1,2118	8	11	10		1140,1140,1140	-6.8	0.3	9	dbSNP_132	10	36,8338		0,36,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,37,6269	TT,TC,CC		0.4299,0.0236,0.2934	,,	380/600,380/600,380/600	140128914	37,12575	2119	4187	6306	SO:0001819	synonymous_variant	142680	exon11			CGTCCTCGCGGGC	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1140C>T	9.37:g.140128914C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_001177317	0	0	0	0	0	A2BFA1	Silent	SNP	ENST00000538474.1	37	CCDS7038.1																																																																																			C|0.995;T|0.005		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		T	140128914	C	T	140128914	2	4	19	1	0	0	0	0	0	0	0	1	14614	871	31	1		1	SLC34A3	9	140128914	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	3477948	140128914	1084517	41	3707											
DLG5	9231	bcgsc.ca	37	chr10	79566632	79566632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccacgtagaggatgtcGtccttcttaaagctcaactc	7	12	3	1	rs1058198	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:79566632G>A	ENST00000372391.2	-	26	4856	c.4851C>T	c.(4849-4851)gaC>gaT	p.D1617D	DLG5_ENST00000372388.2_Silent_p.D1277D|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1617	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGAGGATGTCGTCCTTCTTAA	0.602													G|||	1315	0.26258	0.2466	0.2392	5008	,	,		16932	0.1736		0.339	False		,,,				2504	0.3139				p.D1617D		.											.	DLG5-98	0			c.C4851T						.	G		1180,3226	415.4+/-337.2	169,842,1192	157	134	142		4851	-11.7	0.1	10	dbSNP_86	142	2978,5622	462.9+/-365.8	536,1906,1858	no	coding-synonymous	DLG5	NM_004747.3		705,2748,3050	AA,AG,GG		34.6279,26.7817,31.9699		1617/1920	79566632	4158,8848	2203	4300	6503	SO:0001819	synonymous_variant	9231	exon26			GATGTCGTCCTTC	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.4851C>T	10.37:g.79566632G>A		Somatic	191	1		WXS	Illumina GAIIx	Phase_I	130	8	NM_004747	0	0	20	20	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			G|0.688;A|0.312		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79566632	G	A	79566632	2	1	19	1	0	0	0	0	0	0	0	1	4572	1136	40	1		1	DLG5	10	79566632	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		79566632	55968115	42	3708											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_024886	0	0	0	0	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	19	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	24644103	104210735	31324012	43	3709											
NRAP	4892	bcgsc.ca	37	chr10	115375528	115375528	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttcagggaggtcagcagtCggtgtgtaatgatgctttat	13	6	2	1	rs11196397	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr10:115375528C>A	ENST00000359988.3	-	27	3265	c.3021G>T	c.(3019-3021)ccG>ccT	p.P1007P	NRAP_ENST00000369358.4_Silent_p.P1015P|NRAP_ENST00000369360.3_Silent_p.P980P|NRAP_ENST00000360478.3_Silent_p.P972P	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.P1007P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTCAGCAGTCGGTGTGTAAT	0.498													C|||	1140	0.227636	0.0802	0.2507	5008	,	,		20885	0.3958		0.2783	False		,,,				2504	0.1851				p.P1007P		.											.	NRAP-522	1	Substitution - coding silent(1)	stomach(1)	c.G3021T						.	C	,	450,3956	217.4+/-235.8	30,390,1783	386	288	321		2916,3021	1.9	0.6	10	dbSNP_120	321	2318,6282	389.1+/-342.8	312,1694,2294	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	342,2084,4077	AA,AC,CC		26.9535,10.2133,21.2825	,	972/1696,1007/1731	115375528	2768,10238	2203	4300	6503	SO:0001819	synonymous_variant	4892	exon27			AGCAGTCGGTGTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3021G>T	10.37:g.115375528C>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	115	5	NM_001261463	0	0	0	0	0		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																			C|0.772;A|0.228		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		A	115375528	C	A	115375528	2	1	19	1	0	0	0	0	0	0	0	1	10677	871	31	2		2	NRAP	10	115375528	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	11164793	115375528	20159219	44	3710											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	19	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10		1253980	133752536	45	3711											
PTPRJ	5795	bcgsc.ca	37	chr11	48152214	48152214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtattgctttgaaatagttCcaaaaggaccaaatgggact	9	6	0	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:48152214C>T	ENST00000418331.2	+	8	1913	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P521S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	521	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.P521T(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAAATAGTTCCAAAAGGACC	0.423																																					p.P521S		.											.	PTPRJ-541	1	Substitution - Missense(1)	skin(1)	c.C1561T						.						79	79	79					11																	48152214		2201	4298	6499	SO:0001583	missense	5795	exon8			ATAGTTCCAAAAG	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.1561C>T	11.37:g.48152214C>T	ENSP00000400010:p.Pro521Ser	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_001098503	0	0	2	2	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404342	0.62288	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.51325	0.71;0.71	5.71	4.78	0.61160	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62877	0.2464	M	0.65498	2.005	0.32732	N	0.50883	D;D	0.89917	0.998;1.0	D;D	0.91635	0.946;0.999	T	0.66618	-0.5878	9	0.15066	T	0.55	.	12.6336	0.56671	0.0:0.8338:0.1662:0.0	.	521;521	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	521	ENSP00000400010:P521S;ENSP00000409733:P521S	ENSP00000400010:P521S	P	+	1	0	PTPRJ	48108790	0.770000	0.28543	0.998000	0.56505	0.651000	0.38670	2.145000	0.42207	1.370000	0.46153	0.655000	0.94253	CCA	.		0.423	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48152214	C	T	48152214	3	4	19	1	0	0	0	0	1	0	0	0	12849	855	30	3	1591	3	PTPRJ	11	48152214	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	46898234	48152214	86854302	46	3712											
CAPN1	823	bcgsc.ca	37	chr11	64950970	64950970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggctcttggcggccatCgcctccctcactctcaacga	9	17	3	0	rs17583	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:64950970C>T	ENST00000527323.1	+	3	603	c.363C>T	c.(361-363)atC>atT	p.I121I	AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000279247.6_Silent_p.I121I|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000524773.1_Silent_p.I121I|CAPN1_ENST00000533820.1_Silent_p.I121I|CAPN1_ENST00000533129.1_Silent_p.I121I			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	121	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGCGGCCATCGCCTCCCTCA	0.637													C|||	1225	0.244609	0.053	0.4035	5008	,	,		17061	0.2966		0.3012	False		,,,				2504	0.2791				p.I121I		.											.	CAPN1-91	0			c.C363T						.	C	,,	387,3821		14,359,1731	43	49	47		363,363,363	-3.1	0.9	11	dbSNP_63	47	2406,6032		320,1766,2133	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPN1	NM_001198868.1,NM_001198869.1,NM_005186.3	,,	334,2125,3864	TT,TC,CC		28.5139,9.1968,22.086	,,	121/715,121/715,121/715	64950970	2793,9853	2104	4219	6323	SO:0001819	synonymous_variant	823	exon4			GGCCATCGCCTCC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.363C>T	11.37:g.64950970C>T		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	116	5	NM_001198869	0	0	42	42	0	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																			C|0.734;T|0.266		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			T	64950970	C	T	64950970	2	4	19	1	0	0	0	0	0	0	0	1	2629	874	31	1		1	CAPN1	11	64950970	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	16798756	64950970	70055546	47	3713											
NPAS4	266743	bcgsc.ca	37	chr11	66189980	66189980	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattgacccagctgaccaccTcactgtgcgccagcaactca	7	17	2	2			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:66189980T>A	ENST00000311034.2	+	3	562	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	129	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTGACCACCTCACTGTGCGC	0.582																																					p.L129H		.											.	NPAS4-90	0			c.T386A						.						158	134	142					11																	66189980		2200	4295	6495	SO:0001583	missense	266743	exon3			ACCACCTCACTGT	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.386T>A	11.37:g.66189980T>A	ENSP00000311196:p.Leu129His	Somatic	181	1		WXS	Illumina GAIIx	Phase_I	163	6	NM_178864	0	0	0	0	0	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545138	0.65198	.	.	ENSG00000174576	ENST00000311034	T	0.16597	2.33	4.71	4.71	0.59529	PAS (2);	0.138702	0.33534	N	0.004817	T	0.21962	0.0529	N	0.22421	0.69	0.47341	D	0.999399	D	0.61080	0.989	P	0.58660	0.843	T	0.01675	-1.1298	10	0.40728	T	0.16	-7.782	12.1778	0.54196	0.0:0.0:0.0:1.0	.	129	Q8IUM7	NPAS4_HUMAN	H	129	ENSP00000311196:L129H	ENSP00000311196:L129H	L	+	2	0	NPAS4	65946556	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.604000	0.74150	1.975000	0.57531	0.460000	0.39030	CTC	.		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		A	66189980	T	A	66189980	3	1	19	1	0	0	0	0	1	0	0	0	10604	1551	54	5	396	5	NPAS4	11	66189980	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	1239010	66189980	68816536	48	3714											
NUMA1	10068	broad.mit.edu	37	chr11	71715139	71715139	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccatcgactggcgccGgtcagcctgcaaggaagggc	16	12	1	0	rs199699067		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:71715139G>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.R908W|NUMA1_ENST00000393695.3_Missense_Mutation_p.R2044W|NUMA1_ENST00000358965.6_Missense_Mutation_p.R2030W	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GACTGGCGCCGGTCAGCCTGC	0.637																																					p.R2044W		.											.	NUMA1-633	0			c.C6130T						.	G	TRP/ARG	0,4400		0,0,2200	70	79	76		6130	3.5	1	11		76	2,8584	2.2+/-6.3	0,2,4291	yes	missense	NUMA1	NM_006185.2	101	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	2044/2116	71715139	2,12984	2200	4293	6493	SO:0001628	intergenic_variant	4926	exon26			GGCGCCGGTCAGC	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715139G>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	59	3	NM_006185	0	0	0	0	0	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177925	0.78564	0.0	2.33E-4	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.33654	1.4;1.88;1.87	4.5	3.51	0.40186	.	0.143577	0.33005	N	0.005398	T	0.45337	0.1337	L	0.29908	0.895	0.39168	D	0.962541	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.981;0.994;0.981;0.99	T	0.49925	-0.8887	10	0.87932	D	0	.	12.2149	0.54400	0.0:0.0:0.7687:0.2313	.	2050;2030;2044;908	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	W	908;2030;2044;1593;1017	ENSP00000260051:R908W;ENSP00000351851:R2030W;ENSP00000377298:R2044W	ENSP00000260051:R908W	R	-	1	2	NUMA1	71392787	0.949000	0.32298	1.000000	0.80357	0.963000	0.63663	1.322000	0.33689	2.503000	0.84419	0.561000	0.74099	CGG	.		0.637	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		A	71715139	G	A	71715139	1	1	19	0	1	0	0	0	0	0	0	0	10789	1115	39	1		1	NUMA1	11	71715139	IGR	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	5525159	71715139	63291377	49	3715											
PHOX2A	401	hgsc.bcm.edu	37	chr11	71954893	71954893	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcgcagttggaggagccGagcgcggggcagggcggccc	21	11	0	0	rs182932220	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr11:71954893G>A	ENST00000298231.5	-	1	327	c.156C>T	c.(154-156)ctC>ctT	p.L52L	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	52					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAGGAGCCGAGCGCGGGGC	0.741													g|||	70	0.0139776	0.0015	0.013	5008	,	,		7842	0.006		0.0378	False		,,,				2504	0.0153				p.L52L		.											.	PHOX2A-90	0			c.C156T						.			15,3377		0,15,1681	2	3	3		156	3.5	1	11		3	189,6897		1,187,3355	no	coding-synonymous	PHOX2A	NM_005169.3		1,202,5036	AA,AG,GG		2.6672,0.4422,1.9469		52/285	71954893	204,10274	1696	3543	5239	SO:0001819	synonymous_variant	401	exon1			GGAGCCGAGCGCG	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.156C>T	11.37:g.71954893G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_005169	0	0	0	0	0	A8K3N0|Q8IVZ2	Silent	SNP	ENST00000298231.5	37	CCDS8214.1																																																																																			G|0.980;A|0.020		0.741	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		A	71954893	G	A	71954893	2	1	19	1	0	0	0	0	0	0	0	1	11897	1045	37	1		1	PHOX2A	11	71954893	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	239754	71954893	63051623	50	3716											
TMPO	7112	bcgsc.ca	37	chr12	98927830	98927830	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctatgcaggcagacattagtCaagctgcacagattcttagc	9	10	2	2	rs17459334	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr12:98927830C>G	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.Q599E|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACATTAGTCAAGCTGCACA	0.468													C|||	295	0.0589058	0.003	0.0403	5008	,	,		22302	0.001		0.1093	False		,,,				2504	0.1554				p.Q599E		.											.	TMPO-93	0			c.C1795G						.	C	,,GLU/GLN	95,4311	77.3+/-115.6	2,91,2110	99	79	86		,,1795	6	1	12	dbSNP_123	86	830,7770	192.0+/-238.1	32,766,3502	yes	intron,intron,missense	TMPO	NM_001032283.2,NM_001032284.2,NM_003276.2	,,29	34,857,5612	GG,GC,CC		9.6512,2.1562,7.1121	,,possibly-damaging	,,599/695	98927830	925,12081	2203	4300	6503	SO:0001627	intron_variant	7112	exon4			ATTAGTCAAGCTG		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2214C>G	12.37:g.98927830C>G		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_003276	0	0	25	25	0	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	101	0.04624542124542125	1	0.0020325203252032522	19	0.052486187845303865	0	0.0	81	0.10686015831134564	C	14.20	2.463925	0.43736	0.021562	0.096512	ENSG00000120802	ENST00000266732	T	0.59772	0.24	5.96	5.96	0.96718	.	0.461649	0.22945	N	0.053734	T	0.01254	0.0041	N	0.24115	0.695	0.09310	P	1.0	P	0.49090	0.919	P	0.44447	0.45	T	0.10428	-1.0630	9	0.42905	T	0.14	.	15.9221	0.79583	0.0:1.0:0.0:0.0	rs17459334;rs52831524;rs17459334	599	P42166	LAP2A_HUMAN	E	599	ENSP00000266732:Q599E	ENSP00000266732:Q599E	Q	+	1	0	TMPO	97451961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.147000	0.42226	2.832000	0.97577	0.655000	0.94253	CAA	C|0.934;G|0.066		0.468	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		G	98927830	C	G	98927830	1	3	19	0	1	0	0	0	0	0	0	0	16284	827	29	3		3	TMPO	12	98927830	Intron	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10		98927830	34924065	51	3717											
GOLGA3	2802	bcgsc.ca	37	chr12	133372758	133372758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcaggtccaggtgctcctGctgcaaagcctcaagctgct	10	14	2	0			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr12:133372758G>T	ENST00000450791.2	-	10	2332	c.2149C>A	c.(2149-2151)Cag>Aag	p.Q717K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q717K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q717K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q717K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q717K			Q08378	GOGA3_HUMAN	golgin A3	717	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)		AGGTGCTCCTGCTGCAAAGCC	0.582																																					p.Q717K		.											.	GOLGA3-95	0			c.C2149A						.						33	35	34					12																	133372758		2197	4292	6489	SO:0001583	missense	2802	exon11			GCTCCTGCTGCAA	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.2149C>A	12.37:g.133372758G>T	ENSP00000410378:p.Gln717Lys	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	57	5	NM_001172557	0	0	16	16	0	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252693	0.22965	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29397	1.99;1.99;2.0;1.57;1.57	5.38	4.47	0.54385	.	0.105345	0.64402	D	0.000003	T	0.30293	0.0760	M	0.66939	2.045	0.80722	D	1	B;B;B	0.28233	0.204;0.091;0.003	B;B;B	0.26770	0.073;0.044;0.006	T	0.11060	-1.0603	10	0.07482	T	0.82	.	15.2736	0.73726	0.0:0.0:0.8586:0.1414	.	717;717;717	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	717	ENSP00000204726:Q717K;ENSP00000410378:Q717K;ENSP00000409303:Q717K;ENSP00000442143:Q717K;ENSP00000442603:Q717K	ENSP00000204726:Q717K	Q	-	1	0	GOLGA3	131882831	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.432000	0.66514	1.225000	0.43566	0.609000	0.83330	CAG	.		0.582	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		T	133372758	G	T	133372758	3	4	19	1	0	0	0	0	1	0	0	0	6580	1328	46	3	2541	3	GOLGA3	12	133372758	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	34444928	133372758	479137	52	3718											
NYNRIN	57523	bcgsc.ca	37	chr14	24878485	24878485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaggctggaggtgagccGggggatcaagggagtatgca	18	7	1	1	rs12897153	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr14:24878485G>A	ENST00000382554.3	+	4	1803	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	495					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P495P(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGGTGAGCCGGGGGATCAAG	0.577													G|||	440	0.0878594	0.1415	0.1052	5008	,	,		18385	0		0.1362	False		,,,				2504	0.044				p.P495P		.											.	NYNRIN-3	2	Substitution - coding silent(2)	lung(2)	c.G1485A						.	G		562,3228		37,488,1370	39	42	41		1485	-9.6	0	14	dbSNP_121	41	1133,7071		92,949,3061	no	coding-synonymous	NYNRIN	NM_025081.2		129,1437,4431	AA,AG,GG		13.8103,14.8285,14.1321		495/1899	24878485	1695,10299	1895	4102	5997	SO:0001819	synonymous_variant	57523	exon4			TGAGCCGGGGGAT	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1485G>A	14.37:g.24878485G>A		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	49	4	NM_025081	0	0	1	1	0	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																			G|0.896;A|0.104		0.577	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24878485	G	A	24878485	2	1	19	1	0	0	0	0	0	0	0	1	10835	1103	39	1		1	NYNRIN	14	24878485	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		24878485	82471055	53	3719											
NIN	51199	broad.mit.edu	37	chr14	51223460	51223460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtagtgttttcctccagtaTaacttgattctgtactcttg	7	8	2	1	rs41299193	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr14:51223460T>A	ENST00000382041.3	-	18	4478	c.4288A>T	c.(4288-4290)Ata>Tta	p.I1430L	NIN_ENST00000530997.2_Missense_Mutation_p.I1430L|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.I1430L|NIN_ENST00000245441.5_Missense_Mutation_p.I1430L|NIN_ENST00000453196.1_Missense_Mutation_p.I1430L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1430					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tcctccagtataacttgattc	0.403			T	PDGFRB	MPD								T|||	5	0.000998403	0	0	5008	,	,		23619	0		0.005	False		,,,				2504	0				p.I1430L		.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN-229	0			c.A4288T						.	T	,LEU/ILE,LEU/ILE,LEU/ILE	4,3812		0,4,1904	116	97	104		,4288,4288,4288	-10.7	0	14	dbSNP_127	104	19,7083		0,19,3532	yes	intron,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	,5,5,5	0,23,5436	AA,AT,TT		0.2675,0.1048,0.2107	,benign,benign,benign	,1430/2134,1430/2047,1430/2091	51223460	23,10895	1908	3551	5459	SO:0001583	missense	51199	exon18			CCAGTATAACTTG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4288A>T	14.37:g.51223460T>A	ENSP00000371472:p.Ile1430Leu	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	44	3	NM_020921	0	0	1	1	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	T|T	1.332|1.332	-0.596412|-0.596412	0.03771|0.03771	0.001048|0.001048	0.002675|0.002675	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.06294|.	3.59;3.33;3.32;3.33|.	5.35|5.35	-10.7|-10.7	0.00240|0.00240	.|.	2.077890|.	0.02270|.	N|.	0.068370|.	T|T	0.11452|0.11452	0.0279|0.0279	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.12192|0.12192	-1.0557|-1.0557	10|5	0.28530|.	T|.	0.3|.	5.3325|5.3325	0.4571|0.4571	0.00511|0.00511	0.2882:0.1878:0.2952:0.2288|0.2882:0.1878:0.2952:0.2288	rs41299193|rs41299193	1436;1430;1430;1430|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	L|F	1430;1413;1436;1430;1430;1430|920	ENSP00000245441:I1430L;ENSP00000371472:I1430L;ENSP00000324210:I1430L;ENSP00000412391:I1430L|.	ENSP00000245441:I1430L|.	I|Y	-|-	1|2	0|0	NIN|NIN	50293210|50293210	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.028000|0.028000	0.11728|0.11728	-0.556000|-0.556000	0.05992|0.05992	-2.866000|-2.866000	0.00325|0.00325	-2.419000|-2.419000	0.00218|0.00218	ATA|TAT	T|0.997;A|0.003		0.403	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51223460	T	A	51223460	3	1	19	1	0	0	0	0	1	0	0	0	10456	1406	49	5	2317	5	NIN	14	51223460	Missense_Mutation	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	26344975	51223460	56126080	54	3720											
THBS1	7057	bcgsc.ca	37	chr15	39882178	39882178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctggatggctggcccaAtgagaacctggtgtgcgtgg	16	9	0	2	rs2228262	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:39882178A>G	ENST00000260356.5	+	13	2264	c.2099A>G	c.(2098-2100)aAt>aGt	p.N700S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	700			N -> S (in dbSNP:rs2228262). {ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GGCTGGCCCAATGAGAACCTG	0.572													A|||	201	0.0401358	0.0136	0.0533	5008	,	,		18546	0.002		0.1064	False		,,,				2504	0.0378				p.N700S		.											.	THBS1-653	0			c.A2099G	GRCh37	CM043345	THBS1	M	rs2228262	.	A	SER/ASN	159,4241	106.9+/-145.3	4,151,2045	90	72	78		2099	6	1	15	dbSNP_98	78	982,7612	206.2+/-248.4	49,884,3364	yes	missense	THBS1	NM_003246.2	46	53,1035,5409	GG,GA,AA		11.4266,3.6136,8.781	probably-damaging	700/1171	39882178	1141,11853	2200	4297	6497	SO:0001583	missense	7057	exon13			GGCCCAATGAGAA		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2099A>G	15.37:g.39882178A>G	ENSP00000260356:p.Asn700Ser	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	145	6	NM_003246	0	0	8	8	0	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	116	0.05311355311355311	6	0.012195121951219513	24	0.06629834254143646	3	0.005244755244755245	83	0.10949868073878628	A	32	5.127644	0.94473	0.036136	0.114266	ENSG00000137801	ENST00000260356	D	0.97870	-4.58	5.99	5.99	0.97316	.	0.000000	0.38381	N	0.001703	T	0.66954	0.2842	M	0.71036	2.16	0.09310	P	0.99999145411	D;D	0.69078	0.994;0.997	P;D	0.65010	0.894;0.931	T	0.67321	-0.5700	9	0.72032	D	0.01	-31.7732	16.4645	0.84074	1.0:0.0:0.0:0.0	rs2228262;rs17632786;rs52798888;rs59160172;rs2228262	615;700	B4E3J7;P07996	.;TSP1_HUMAN	S	700	ENSP00000260356:N700S	ENSP00000260356:N700S	N	+	2	0	THBS1	37669470	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.339000	0.96797	2.292000	0.77174	0.533000	0.62120	AAT	A|0.930;G|0.070		0.572	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		G	39882178	A	G	39882178	3	3	19	1	0	0	0	0	1	0	0	0	15900	101	4	4	2145	4	THBS1	15	39882178	Missense_Mutation	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10		39882178	62649214	55	3721											
SPINT1	6692	bcgsc.ca	37	chr15	41148199	41148199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctatggtggttgttaCggcaacaagaacaactttga	9	7	0	2	rs659232	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:41148199C>T	ENST00000344051.4	+	9	1509	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	SPINT1_ENST00000562057.1_Silent_p.Y409Y|SPINT1_ENST00000431806.1_Silent_p.Y409Y			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	425	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GTGGTTGTTACGGCAACAAGA	0.572													T|||	4276	0.853834	0.7481	0.8905	5008	,	,		21855	0.9901		0.829	False		,,,				2504	0.8558				p.Y425Y		.											.	SPINT1-91	0			c.C1275T						.	T	,,	3383,1023	379.2+/-323.2	1303,777,123	154	146	149		1227,1227,1275	-1.4	0.4	15	dbSNP_83	149	7033,1567	293.8+/-301.5	2873,1287,140	no	coding-synonymous,coding-synonymous,coding-synonymous	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,	4176,2064,263	TT,TC,CC		18.2209,23.2183,19.9139	,,	409/514,409/514,425/530	41148199	10416,2590	2203	4300	6503	SO:0001819	synonymous_variant	6692	exon9			TTGTTACGGCAAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1275C>T	15.37:g.41148199C>T		Somatic	172	1		WXS	Illumina GAIIx	Phase_I	130	5	NM_181642	0	0	0	0	0	Q7Z7D2	Silent	SNP	ENST00000344051.4	37	CCDS10067.1																																																																																			C|0.173;T|0.827		0.572	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		T	41148199	C	T	41148199	2	4	19	1	0	0	0	0	0	0	0	1	15115	547	19	1		1	SPINT1	15	41148199	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	1266021	41148199	61383193	56	3722											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_171846	0	0	0	3	3	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	19	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	22265884	63414083	39117309	57	3723											
LMAN1L	79748	bcgsc.ca	37	chr15	75113023	75113023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctccgcctggcgagGcagctggaagggctgtgggc	18	12	0	0	rs145422132	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr15:75113023G>A	ENST00000309664.5	+	8	961	c.822G>A	c.(820-822)agG>agA	p.R274R	LMAN1L_ENST00000379709.3_Silent_p.R262R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	274						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTGGCGAGGCAGCTGGAAG	0.602													G|||	47	0.00938498	0	0.0115	5008	,	,		20497	0		0.0298	False		,,,				2504	0.0092				p.R274R		.											.	LMAN1L-90	0			c.G822A						.	G		32,4362	37.6+/-69.7	0,32,2165	71	72	72		822	3.5	0.8	15	dbSNP_134	72	292,8300	107.4+/-168.2	4,284,4008	no	coding-synonymous	LMAN1L	NM_021819.2		4,316,6173	AA,AG,GG		3.3985,0.7283,2.495		274/527	75113023	324,12662	2197	4296	6493	SO:0001819	synonymous_variant	79748	exon8			GGCGAGGCAGCTG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.822G>A	15.37:g.75113023G>A		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_021819	0	0	0	0	0	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																			G|0.980;A|0.020		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75113023	G	A	75113023	2	1	19	1	0	0	0	0	0	0	0	1	8867	1194	42	3		3	LMAN1L	15	75113023	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	11698940	75113023	27418369	58	3724											
PDIA2	64714	bcgsc.ca	37	chr16	336396	336396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccctgattgggatcagcGgccagttaagaccctcgtgg	12	13	1	2	rs400037	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:336396G>A	ENST00000219406.6	+	8	1181	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	PDIA2_ENST00000404312.1_Missense_Mutation_p.R385Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	388	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> Q (in dbSNP:rs400037).		cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGGATCAGCGGCCAGTTAAG	0.562													g|||	844	0.16853	0.3457	0.1455	5008	,	,		12070	0.0377		0.1899	False		,,,				2504	0.0583				p.R388Q		.											.	PDIA2-91	0			c.G1163A						.		GLN/ARG	1142,2676		163,816,930	58	64	62		1163	-2.3	1	16	dbSNP_80	62	1679,6571		183,1313,2629	yes	missense	PDIA2	NM_006849.2	43	346,2129,3559	AA,AG,GG		20.3515,29.9109,23.3759	benign	388/526	336396	2821,9247	1909	4125	6034	SO:0001583	missense	64714	exon8			ATCAGCGGCCAGT	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1163G>A	16.37:g.336396G>A	ENSP00000219406:p.Arg388Gln	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	239	7	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	394	0.1804029304029304	177	0.3597560975609756	51	0.1408839779005525	27	0.0472027972027972	139	0.18337730870712401	g	0.021	-1.423957	0.01126	0.299109	0.203515	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.16897	2.31;2.31;3.97	4.04	-2.31	0.06765	Thioredoxin-like fold (3);	1.119980	0.06633	N	0.759534	T	0.00012	0.0000	N	0.01188	-0.97	0.80722	P	0.0	B	0.12013	0.005	B	0.10450	0.005	T	0.46442	-0.9191	9	0.02654	T	1	.	9.7883	0.40690	0.6167:0.0:0.3833:0.0	rs400037;rs58645006;rs400037	388	Q13087	PDIA2_HUMAN	Q	388;357;385;17	ENSP00000219406:R388Q;ENSP00000384410:R385Q;ENSP00000405081:R17Q	ENSP00000219406:R388Q	R	+	2	0	PDIA2	276397	0.000000	0.05858	0.958000	0.39756	0.812000	0.45895	-0.094000	0.11094	-0.251000	0.09542	0.479000	0.44913	CGG	G|0.810;A|0.190		0.562	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	336396	G	A	336396	3	1	19	1	0	0	0	0	1	0	0	0	11707	1116	39	1	1193	1	PDIA2	16	336396	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		336396	90018357	59	3725											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	19	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	2968177	3304573	87050180	60	3726											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	2	2	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	19	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	54258231	57562804	32791949	61	3727											
GPR97	222487	bcgsc.ca	37	chr16	57722328	57722328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcaccacagtctcctcCtctactgcaagattggacca	7	15	2	2	rs12444859	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:57722328C>T	ENST00000333493.4	+	12	1766	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Silent_p.S415S|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	535					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGTCTCCTCCTCTACTGCAA	0.557													c|||	1740	0.347444	0.441	0.3127	5008	,	,		20043	0.3274		0.3221	False		,,,				2504	0.2924				p.S535S		.											.	GPR97-91	0			c.C1605T						.	C		1895,2501	544.0+/-376.4	427,1041,730	182	162	169		1605	-7.1	0	16	dbSNP_120	169	2658,5942	428.2+/-355.8	412,1834,2054	no	coding-synonymous	GPR97	NM_170776.4		839,2875,2784	TT,TC,CC		30.907,43.1074,35.0339		535/550	57722328	4553,8443	2198	4300	6498	SO:0001819	synonymous_variant	222487	exon12			CTCCTCCTCTACT	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1605C>T	16.37:g.57722328C>T		Somatic	199	0		WXS	Illumina GAIIx	Phase_I	205	7	NM_170776	0	0	0	0	0	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																			C|0.646;T|0.354		0.557	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57722328	C	T	57722328	2	4	19	1	0	0	0	0	0	0	0	1	6747	668	24	3		3	GPR97	16	57722328	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	159524	57722328	32632425	62	3728											
ADAD2	161931	hgsc.bcm.edu	37	chr16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaaagtgcctgggGgcccgcgcccgcgcccgcga	15	19	0	0	rs8044695|rs554488585	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000567413.1_3'UTR	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5	7	7		131,131	-1.1	0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84224967	G	A	84224967	3	1	19	1	0	0	0	0	1	0	0	0	232	1232	43	3	133	3	ADAD2	16	84224967	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	26502639	84224967	6129786	63	3729											
KIAA1609	57707	bcgsc.ca	37	chr16	84516309	84516309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagaacaggaagcatctGttgtcccctgaaagtagcca	11	9	1	2	rs433293	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:84516309G>A	ENST00000343629.6	-	6	1148	c.966C>T	c.(964-966)aaC>aaT	p.N322N	TLDC1_ENST00000535580.1_Silent_p.N295N	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	322	TLD.					lysosomal membrane (GO:0005765)											GGAAGCATCTGTTGTCCCCTG	0.547													G|||	2201	0.439497	0.1959	0.5187	5008	,	,		21112	0.5575		0.4205	False		,,,				2504	0.6104				p.N322N		.											.	KIAA1609-92	0			c.C966T						.	G		1090,3310	392.6+/-328.5	145,800,1255	120	91	101		966	2.1	0	16	dbSNP_80	101	3644,4956	523.9+/-380.4	767,2110,1423	no	coding-synonymous	KIAA1609	NM_020947.3		912,2910,2678	AA,AG,GG		42.3721,24.7727,36.4154		322/457	84516309	4734,8266	2200	4300	6500	SO:0001819	synonymous_variant	57707	exon6			GCATCTGTTGTCC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.966C>T	16.37:g.84516309G>A		Somatic	317	4		WXS	Illumina GAIIx	Phase_I	367	12	NM_020947	0	0	0	0	0	Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																			G|0.625;A|0.375		0.547	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		A	84516309	G	A	84516309	2	1	19	1	0	0	0	0	0	0	0	1	8274	1368	48	3		3	KIAA1609	16	84516309	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	291342	84516309	5838444	64	3730											
ANKRD11	29123	hgsc.bcm.edu	37	chr16	89346883	89346883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgggcagagcgtacggggCaggagaggcgggaggggcgg	25	7	0	2	rs60520302	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:89346883C>G	ENST00000301030.4	-	9	6527	c.6067G>C	c.(6067-6069)Gcc>Ccc	p.A2023P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2023P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2023	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTACGGGGCAGGAGAGGCG	0.736													C|||	188	0.0375399	0.028	0.0245	5008	,	,		12625	0.0744		0.0507	False		,,,				2504	0.0082				p.A2023P		.											.	ANKRD11-139	0			c.G6067C						.	C	PRO/ALA	54,2948		0,54,1447	6	8	7		6067	0.2	0	16	dbSNP_129	7	203,6379		8,187,3096	no	missense	ANKRD11	NM_013275.4	27	8,241,4543	GG,GC,CC		3.0842,1.7988,2.6816	benign	2023/2664	89346883	257,9327	1501	3291	4792	SO:0001583	missense	29123	exon9			ACGGGGCAGGAGA	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6067G>C	16.37:g.89346883C>G	ENSP00000301030:p.Ala2023Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_001256183	0	0	6	12	6	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	104	0.047619047619047616	12	0.024390243902439025	6	0.016574585635359115	38	0.06643356643356643	48	0.0633245382585752	c	0.719	-0.784169	0.02907	0.017988	0.030842	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37584	1.19;1.19	0.207	0.207	0.15214	.	0.876393	0.09724	N	0.764014	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	0.999998	B	0.34372	0.451	B	0.20384	0.029	T	0.09640	-1.0665	9	0.34782	T	0.22	.	.	.	.	rs60520302	2023	Q6UB99	ANR11_HUMAN	P	2023	ENSP00000301030:A2023P;ENSP00000367581:A2023P	ENSP00000301030:A2023P	A	-	1	0	ANKRD11	87874384	0.046000	0.20272	0.026000	0.17262	0.028000	0.11728	0.465000	0.22004	0.293000	0.22520	0.298000	0.19748	GCC	C|0.952;G|0.048		0.736	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		G	89346883	C	G	89346883	3	3	19	1	0	0	0	0	1	0	0	0	639	710	25	3	1944	3	ANKRD11	16	89346883	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	4830574	89346883	1007870	65	3731											
GAS8	2622	bcgsc.ca	37	chr16	90102835	90102835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatgctgagggacgaActcgacttgcggagaaagac	14	7	0	5	rs868045	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr16:90102835A>G	ENST00000268699.4	+	6	719	c.597A>G	c.(595-597)gaA>gaG	p.E199E	GAS8_ENST00000536122.1_Silent_p.E174E|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	199	Microtubule-binding.		E -> K (in dbSNP:rs868044).		cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TGAGGGACGAACTCGACTTGC	0.542													G|||	1324	0.264377	0.3933	0.2493	5008	,	,		22057	0.0079		0.3907	False		,,,				2504	0.2352				p.E199E		.											.	GAS8-227	0			c.A597G						.	G		1719,2677	648.6+/-398.7	337,1045,816	107	91	97		597	1.3	0.4	16	dbSNP_86	97	3532,5068	631.5+/-398.5	725,2082,1493	no	coding-synonymous	GAS8	NM_001481.2		1062,3127,2309	GG,GA,AA		41.0698,39.1037,40.4047		199/479	90102835	5251,7745	2198	4300	6498	SO:0001819	synonymous_variant	2622	exon6			GGACGAACTCGAC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.597A>G	16.37:g.90102835A>G		Somatic	332	0		WXS	Illumina GAIIx	Phase_I	356	9	NM_001481	0	0	34	34	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																			A|0.644;G|0.356		0.542	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			G	90102835	A	G	90102835	2	3	19	1	0	0	0	0	0	0	0	1	6276	40	2	4		4	GAS8	16	90102835	Silent	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	755952	90102835	251918	66	3732											
ASB16	92591	hgsc.bcm.edu	37	chr17	42254236	42254236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtacctggagcatggcGccgacgtgggcctgcgcacc	14	15	1	0	rs74491716	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:42254236G>A	ENST00000293414.1	+	3	784	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	234					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)		GGAGCATGGCGCCGACGTGGG	0.726													G|||	71	0.0141773	0	0.0245	5008	,	,		11118	0		0.0328	False		,,,				2504	0.0215				p.A234T		.											.	ASB16-227	0			c.G700A						.	G	THR/ALA,CYS/ARG	18,4380		0,18,2181	17	17	17		700,385	5.2	0.1	17	dbSNP_132	17	231,8353		5,221,4066	yes	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	5,239,6247	AA,AG,GG		2.6911,0.4093,1.918	probably-damaging,probably-damaging	234/454,129/194	42254236	249,12733	2199	4292	6491	SO:0001583	missense	92591	exon3			CATGGCGCCGACG	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.700G>A	17.37:g.42254236G>A	ENSP00000293414:p.Ala234Thr	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	33	20	NM_080863	0	0	5	5	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	36|36	0.016483516483516484|0.016483516483516484	0|0	0.0|0.0	11|11	0.03038674033149171|0.03038674033149171	0|0	0.0|0.0	25|25	0.032981530343007916|0.032981530343007916	G|G	22.3|22.3	4.273687|4.273687	0.80580|0.80580	0.004093|0.004093	0.026911|0.026911	ENSG00000161664|ENSG00000168597	ENST00000293414|ENST00000303061	T|.	0.70631|.	-0.5|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Ankyrin repeat-containing domain (3);|.	0.105147|.	0.64402|.	D|.	0.000005|.	T|T	0.55433|0.55433	0.1920|0.1920	M|M	0.70787|0.70787	2.145|2.145	0.53688|0.53688	D|D	0.999971|0.999971	D|D	0.76494|0.76494	0.999|0.999	D|P	0.63597|0.60682	0.916|0.878	T|T	0.72228|0.72228	-0.4354|-0.4354	10|8	0.87932|0.87932	D|D	0|0	-17.2603|-17.2603	17.7171|17.7171	0.88341|0.88341	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	234|129	Q96NS5|Q495Z4	ASB16_HUMAN|CQ065_HUMAN	T|C	234|129	ENSP00000293414:A234T|.	ENSP00000293414:A234T|ENSP00000366342:R129C	A|R	+|-	1|1	0|0	ASB16|C17orf65	39609762|39609762	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.049000|0.049000	0.14656|0.14656	9.108000|9.108000	0.94275|0.94275	2.720000|2.720000	0.93068|0.93068	0.555000|0.555000	0.69702|0.69702	GCC|CGC	G|0.984;A|0.016		0.726	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			A	42254236	G	A	42254236	3	1	19	1	0	0	0	0	1	0	0	0	1021	1087	38	1	710	1	ASB16	17	42254236	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		42254236	38940974	67	3733											
ASB16	92591	hgsc.bcm.edu	37	chr17	42254281	42254281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagactgcgctgaacAcggcgtgcgctggggccgag	19	11	0	2	rs7212573	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:42254281A>G	ENST00000293414.1	+	3	829	c.745A>G	c.(745-747)Acg>Gcg	p.T249A	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	249				T -> A (in Ref. 1; BAB70800/BAG37167, 3; AAH75088 and 4; AAL57353). {ECO:0000305}.	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)		TGCGCTGAACACGGCGTGCGC	0.756													G|||	2594	0.517971	0.702	0.4424	5008	,	,		11135	0.752		0.2932	False		,,,				2504	0.3129				p.T249A		.											.	ASB16-227	0			c.A745G						.	G	ALA/THR,ARG/CYS	2530,1736		801,928,404	7	8	7		745,340	3.1	0.7	17	dbSNP_116	7	2387,5811		422,1543,2134	no	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	1223,2471,2538	GG,GA,AA		29.1169,40.6939,39.4496	benign,benign	249/454,114/194	42254281	4917,7547	2133	4099	6232	SO:0001583	missense	92591	exon3			CTGAACACGGCGT	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.745A>G	17.37:g.42254281A>G	ENSP00000293414:p.Thr249Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_080863	0	0	0	0	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	1144|1144	0.5238095238095238|0.5238095238095238	349|349	0.709349593495935|0.709349593495935	142|142	0.39226519337016574|0.39226519337016574	420|420	0.7342657342657343|0.7342657342657343	233|233	0.3073878627968338|0.3073878627968338	G|G	5.919|5.919	0.353578|0.353578	0.11182|0.11182	0.593061|0.593061	0.291169|0.291169	ENSG00000168597|ENSG00000161664	ENST00000303061|ENST00000293414	.|T	.|0.51817	.|0.69	5.22|5.22	3.08|3.08	0.35506|0.35506	.|Ankyrin repeat-containing domain (4);	.|0.157781	.|0.56097	.|N	.|0.000038	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04148|0.04148	-0.265|-0.265	0.58432|0.58432	P|P	8.000000000008E-6|8.000000000008E-6	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41502|0.41502	-0.9505|-0.9505	7|9	0.87932|0.05833	D|T	0|0.94	-9.3151|-9.3151	9.5645|9.5645	0.39389|0.39389	0.0761:0.0:0.6662:0.2577|0.0761:0.0:0.6662:0.2577	rs7212573|rs7212573	114|249	Q495Z4|Q96NS5	CQ065_HUMAN|ASB16_HUMAN	R|A	114|249	.|ENSP00000293414:T249A	ENSP00000366342:C114R|ENSP00000293414:T249A	C|T	-|+	1|1	0|0	C17orf65|ASB16	39609807|39609807	0.002000|0.002000	0.14202|0.14202	0.723000|0.723000	0.30687|0.30687	0.056000|0.056000	0.15407|0.15407	1.059000|1.059000	0.30517|0.30517	0.777000|0.777000	0.33496|0.33496	-0.227000|-0.227000	0.12334|0.12334	TGT|ACG	A|0.476;G|0.524		0.756	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			G	42254281	A	G	42254281	3	3	19	1	0	0	0	0	1	0	0	0	1021	159	6	4	755	4	ASB16	17	42254281	Missense_Mutation	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	45	42254281	38940929	68	3734											
COG1	9382	hgsc.bcm.edu	37	chr17	71189428	71189428	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagatgcgccgctgcgccGtggggctagtggacgccgtg	18	13	0	1			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:71189428G>C	ENST00000299886.4	+	1	300	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	74					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)			CCGCTGCGCCGTGGGGCTAGT	0.731																																					p.V74L		.											.	COG1-91	0			c.G220C						.						20	20	20					17																	71189428		2190	4284	6474	SO:0001583	missense	9382	exon1			TGCGCCGTGGGGC		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.220G>C	17.37:g.71189428G>C	ENSP00000299886:p.Val74Leu	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	117	37	NM_018714	0	0	5	7	2	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183587	0.38609	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21361	2.01;2.02	3.89	3.89	0.44902	.	0.260739	0.38058	N	0.001823	T	0.08935	0.0221	N	0.02539	-0.55	0.25724	N	0.985344	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.22871	-1.0204	10	0.30854	T	0.27	-6.0226	13.1104	0.59270	0.0:0.1621:0.8379:0.0	.	74;74;74	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	74	ENSP00000400111:V74L;ENSP00000299886:V74L	ENSP00000299886:V74L	V	+	1	0	COG1	68701023	1.000000	0.71417	0.991000	0.47740	0.232000	0.25224	5.361000	0.66092	2.158000	0.67659	0.484000	0.47621	GTG	.		0.731	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			C	71189428	G	C	71189428	3	2	19	1	0	0	0	0	1	0	0	0	3664	1145	40	2	222	2	COG1	17	71189428	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	28935147	71189428	10005782	69	3735											
SLC9A3R1	9368	hgsc.bcm.edu	37	chr17	72745313	72745313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccaggtccgagaggagCtgctgcgcgcccaggaagcg	17	13	0	1	rs35910969	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:72745313C>G	ENST00000262613.5	+	1	523	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	MIR3615_ENST00000585285.1_RNA|MIR3615_ENST00000581999.1_RNA	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	110			L -> V (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport; dbSNP:rs35910969). {ECO:0000269|PubMed:18784102}.		actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						CCGAGAGGAGCTGCTGCGCGC	0.731													C|||	30	0.00599042	0	0.0072	5008	,	,		11844	0.001		0.0219	False		,,,				2504	0.002				p.L110V		.											.	SLC9A3R1-90	0			c.C328G	GRCh37	CM085716	SLC9A3R1	M	rs35910969	.	C	VAL/LEU	14,3456		0,14,1721	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	328	1.1	1	17	dbSNP_126	3	137,7075		0,137,3469	yes	missense	SLC9A3R1	NM_004252.3	32	0,151,5190	GG,GC,CC		1.8996,0.4035,1.4136	benign	110/359	72745313	151,10531	1735	3606	5341	SO:0001583	missense	9368	exon1			GAGGAGCTGCTGC	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.328C>G	17.37:g.72745313C>G	ENSP00000262613:p.Leu110Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_004252	0	0	10	23	13	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	CCDS11705.1	26	0.011904761904761904	3	0.006097560975609756	2	0.0055248618784530384	1	0.0017482517482517483	20	0.026385224274406333	C	12.92	2.081982	0.36758	0.004035	0.018996	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.28255	1.62	4.45	1.11	0.20524	PDZ/DHR/GLGF (1);	1.152320	0.06231	N	0.688723	T	0.10723	0.0262	L	0.55481	1.735	0.80722	A	1	B	0.22683	0.073	B	0.26094	0.066	T	0.32188	-0.9916	9	0.18710	T	0.47	-30.0796	6.5664	0.22515	0.3542:0.5579:0.0:0.0878	rs35910969	110	O14745	NHRF1_HUMAN	V	110;60	ENSP00000262613:L110V	ENSP00000262613:L110V	L	+	1	2	SLC9A3R1	70256908	0.542000	0.26426	1.000000	0.80357	0.848000	0.48234	-0.679000	0.05203	0.432000	0.26286	0.491000	0.48974	CTG	C|0.988;G|0.012		0.731	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			G	72745313	C	G	72745313	3	3	19	1	0	0	0	0	1	0	0	0	14759	796	28	3	330	3	SLC9A3R1	17	72745313	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	1555885	72745313	8449897	70	3736											
TNRC6C	57690	hgsc.bcm.edu	37	chr17	76100842	76100842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtggggcccgcccagCgccgacgacagcagggtgat	16	14	0	1	rs528147137		TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:76100842C>T	ENST00000588061.1	+	22	5716	c.4989C>T	c.(4987-4989)agC>agT	p.S1663S	TNRC6C_ENST00000541771.1_Silent_p.S1663S|TNRC6C-AS1_ENST00000589217.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S1699S|TNRC6C_ENST00000301624.4_Silent_p.S1663S|TNRC6C_ENST00000335749.4_Silent_p.S1699S|TNRC6C_ENST00000544502.1_Silent_p.S1699S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1663	Interaction with the CCR4-NOT complex.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCCGCCCAGCGCCGACGACA	0.701													C|||	1	0.000199681	0	0.0014	5008	,	,		13942	0		0	False		,,,				2504	0				p.S1699S		.											.	TNRC6C-24	0			c.C5097T						.						3	4	4					17																	76100842		1786	3815	5601	SO:0001819	synonymous_variant	57690	exon22			GCCCAGCGCCGAC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4989C>T	17.37:g.76100842C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	9	NM_001142640	0	0	3	3	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																			.		0.701	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76100842	C	T	76100842	2	4	19	1	0	0	0	0	0	0	0	1	16389	767	27	1		1	TNRC6C	17	76100842	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	3355529	76100842	5094368	71	3737											
FSCN2	25794	hgsc.bcm.edu	37	chr17	79504073	79504073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgggccgatgccgaCgccccggccgggaccgcgct	16	18	0	0	rs143561119	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:79504073C>T	ENST00000417245.2	+	5	1582	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	FSCN2_ENST00000334850.7_Silent_p.D506D	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	482					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGATGCCGACGCCCCGGCCG	0.736													C|||	110	0.0219649	0.0061	0.0331	5008	,	,		8422	0		0.0736	False		,,,				2504	0.0051				p.D506D		.											.	.	0			c.C1518T						.						1	2	2					17																	79504073		1028	2406	3434	SO:0001819	synonymous_variant	25794	exon5			TGCCGACGCCCCG	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1446C>T	17.37:g.79504073C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001077182	0	0	0	0	0	A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	37	CCDS45811.1																																																																																			C|0.964;T|0.036		0.736	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		T	79504073	C	T	79504073	2	4	19	1	0	0	0	0	0	0	0	1	6092	535	19	1		1	FSCN2	17	79504073	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	3403231	79504073	1691137	72	3738											
UTS2R	2837	hgsc.bcm.edu	37	chr17	80332223	80332223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgacccccgagtcccCgagcagcttccctgggctgg	14	17	0	1	rs41344948	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr17:80332223C>G	ENST00000313135.2	+	1	71	c.23C>G	c.(22-24)cCg>cGg	p.P8R		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	8					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCCGAGTCCCCGAGCAGCTTC	0.721													.|||	29	0.00579073	0	0.0043	5008	,	,		12181	0.001		0.0209	False		,,,				2504	0.0041				p.P8R		.											.	UTS2R-153	0			c.C23G						.	C	ARG/PRO	6,4024		0,6,2009	5	7	6		23	0	0	17	dbSNP_127	6	93,8081		0,93,3994	no	missense	UTS2R	NM_018949.1	103	0,99,6003	GG,GC,CC		1.1378,0.1489,0.8112	benign	8/390	80332223	99,12105	2015	4087	6102	SO:0001583	missense	2837	exon1			AGTCCCCGAGCAG	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.23C>G	17.37:g.80332223C>G	ENSP00000323516:p.Pro8Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_018949	0	0	0	0	0	B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	CCDS11810.1	21	0.009615384615384616	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	18	0.023746701846965697	C	11.31	1.599551	0.28534	0.001489	0.011378	ENSG00000181408	ENST00000313135	T	0.68765	-0.35	4.74	0.0383	0.14199	.	2.746610	0.02267	U	0.068090	T	0.26810	0.0656	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.22386	0.039	T	0.28808	-1.0032	10	0.46703	T	0.11	.	1.8089	0.03087	0.1357:0.4144:0.1195:0.3304	rs41344948	8	Q9UKP6	UR2R_HUMAN	R	8	ENSP00000323516:P8R	ENSP00000323516:P8R	P	+	2	0	UTS2R	77925512	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.716000	0.04991	0.161000	0.19458	0.655000	0.94253	CCG	C|0.990;G|0.010		0.721	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		G	80332223	C	G	80332223	3	3	19	1	0	0	0	0	1	0	0	0	17155	652	23	2	25	2	UTS2R	17	80332223	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	828150	80332223	862987	73	3739											
POLRMT	5442	hgsc.bcm.edu	37	chr19	622326	622326	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccgcagggcctcgggCgcccccagctcctcccagta	11	20	0	0	rs61746452	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:622326C>G	ENST00000588649.2	-	9	1758	c.1674G>C	c.(1672-1674)gcG>gcC	p.A558A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	558					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTCGGGCGCCCCCAGCT	0.716													C|||	3	0.000599042	0	0	5008	,	,		13186	0		0.003	False		,,,				2504	0				p.A558A		.											.	POLRMT-92	0			c.G1674C						.	C		0,4018		0,0,2009	4	4	4		1674	-8.3	0	19	dbSNP_129	4	13,7979		0,13,3983	no	coding-synonymous	POLRMT	NM_005035.3		0,13,5992	GG,GC,CC		0.1627,0.0,0.1082		558/1231	622326	13,11997	2009	3996	6005	SO:0001819	synonymous_variant	5442	exon9			CTCGGGCGCCCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1674G>C	19.37:g.622326C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	42	12	NM_005035	0	0	12	12	0	O60370	Silent	SNP	ENST00000588649.2	37	CCDS12036.1																																																																																			C|0.027;G|0.973		0.716	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		G	622326	C	G	622326	2	3	19	1	0	0	0	0	0	0	0	1	12277	755	27	2		2	POLRMT	19	622326	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10		622326	58506657	74	3740											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005224	0	0	0	2	2	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	19	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	307427	929753	58199230	75	3741											
FBN3	84467	bcgsc.ca	37	chr19	8176919	8176919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctacagctgaaactcccCgggatgttgagacaggaggc	12	12	0	2	rs4804264	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:8176919C>T	ENST00000600128.1	-	31	4317	c.3903G>A	c.(3901-3903)ccG>ccA	p.P1301P	FBN3_ENST00000601739.1_Silent_p.P1301P|FBN3_ENST00000270509.2_Silent_p.P1301P			Q75N90	FBN3_HUMAN	fibrillin 3	1301	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAAACTCCCCGGGATGTTGA	0.597													C|||	3452	0.689297	0.6604	0.719	5008	,	,		12420	0.7847		0.5298	False		,,,				2504	0.773				p.P1301P		.											.	FBN3-100	0			c.G3903A						.	C		2841,1565	668.8+/-402.1	923,995,285	142	121	128		3903	-8.7	0.1	19	dbSNP_111	128	4495,4105	591.7+/-392.9	1154,2187,959	no	coding-synonymous	FBN3	NM_032447.3		2077,3182,1244	TT,TC,CC		47.7326,35.5197,43.5953		1301/2810	8176919	7336,5670	2203	4300	6503	SO:0001819	synonymous_variant	84467	exon30			ACTCCCCGGGATG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3903G>A	19.37:g.8176919C>T		Somatic	265	3		WXS	Illumina GAIIx	Phase_I	278	9	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																			C|0.388;N|0.000		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8176919	C	T	8176919	2	4	19	1	0	0	0	0	0	0	0	1	5726	639	23	1		1	FBN3	19	8176919	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	7247166	8176919	50952064	76	3742											
OR1I1	126370	bcgsc.ca	37	chr19	15198851	15198851	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgtttatcatgttccAggatcactgttggctgctag	11	7	2	0	rs16980313	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:15198851A>T	ENST00000209540.2	+	1	1061	c.975A>T	c.(973-975)ccA>ccT	p.P325P		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	325						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(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						atcatgttccaggatcactgt	0.517													A|||	912	0.182109	0.0242	0.219	5008	,	,		21835	0.2371		0.17	False		,,,				2504	0.3252				p.P325P		.											.	OR1I1-71	0			c.A975T						.	A		203,4203	125.3+/-162.5	3,197,2003	81	59	66		975	-0.2	0	19	dbSNP_123	66	1455,7145	274.3+/-291.2	108,1239,2953	no	coding-synonymous	OR1I1	NM_001004713.1		111,1436,4956	TT,TA,AA		16.9186,4.6074,12.748		325/356	15198851	1658,11348	2203	4300	6503	SO:0001819	synonymous_variant	126370	exon1			TGTTCCAGGATCA	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.975A>T	19.37:g.15198851A>T		Somatic	268	2		WXS	Illumina GAIIx	Phase_I	276	8	NM_001004713	0	0	0	0	0	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																			A|0.868;T|0.132		0.517	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			T	15198851	A	T	15198851	2	4	19	1	0	0	0	0	0	0	0	1	10997	175	7	5		5	OR1I1	19	15198851	Silent	SNP	A	TCGA-OR-A5JQ-01A-11D-A29I-10	7021932	15198851	43930132	77	3743											
OCEL1	79629	hgsc.bcm.edu	37	chr19	17337557	17337557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgccccccgcaggacccGcccatcagcccggaaacccc	9	23	1	0	rs10425488	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:17337557G>T	ENST00000215061.4	+	2	169	c.125G>T	c.(124-126)cGc>cTc	p.R42L	OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.R42L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	42	Pro-rich.		R -> L (in dbSNP:rs10425488).							central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGCAGGACCCGCCCATCAGCC	0.746													G|||	385	0.076877	0.115	0.0836	5008	,	,		10155	0.001		0.0755	False		,,,				2504	0.1002				p.R42L		.											.	OCEL1-68	0			c.G125T						.	G	LEU/ARG	300,3398		14,272,1563	4	6	6		125	3	0.1	19	dbSNP_119	6	480,6968		14,452,3258	no	missense	OCEL1	NM_024578.1	102	28,724,4821	TT,TG,GG		6.4447,8.1125,6.998	possibly-damaging	42/265	17337557	780,10366	1849	3724	5573	SO:0001583	missense	79629	exon2			GGACCCGCCCATC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.125G>T	19.37:g.17337557G>T	ENSP00000215061:p.Arg42Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_024578	0	0	12	20	8		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	142	0.06501831501831502	54	0.10975609756097561	30	0.08287292817679558	0	0.0	58	0.07651715039577836	G	16.23	3.063736	0.55432	0.081125	0.064447	ENSG00000099330	ENST00000215061	T	0.32988	1.43	3.01	3.01	0.34805	.	0.596543	0.14714	N	0.302724	T	0.00666	0.0022	N	0.19112	0.55	0.80722	P	0.0	D	0.76494	0.999	D	0.79108	0.992	T	0.04855	-1.0922	9	0.39692	T	0.17	-18.151	6.1073	0.20081	0.1412:0.0:0.8588:0.0	rs10425488	42	Q9H607	OCEL1_HUMAN	L	42	ENSP00000215061:R42L	ENSP00000215061:R42L	R	+	2	0	OCEL1	17198557	0.003000	0.15002	0.067000	0.19924	0.403000	0.30841	0.226000	0.17776	2.001000	0.58596	0.491000	0.48974	CGC	G|0.934;T|0.066		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		T	17337557	G	T	17337557	3	4	19	1	0	0	0	0	1	0	0	0	10855	1087	38	2	131	2	OCEL1	19	17337557	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	2138706	17337557	41791426	78	3744											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_012088	0	0	5	11	6		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	19	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	285057	17622614	41506369	79	3745											
CCDC124	115098	bcgsc.ca	37	chr19	18047283	18047283	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagcggcccgggcacgTagggcagaggccaaggcggc	19	13	0	1	rs4808722	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:18047283T>G	ENST00000597436.1	+	2	161	c.54T>G	c.(52-54)cgT>cgG	p.R18R	CCDC124_ENST00000445755.2_Silent_p.R18R	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	18					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						CCCGGGCACGTAGGGCAGAGG	0.637													G|||	1841	0.367612	0.6248	0.2522	5008	,	,		15506	0.1161		0.3857	False		,,,				2504	0.3425				p.R18R		.											.	CCDC124-68	0			c.T54G						.	G	,	2554,1852		755,1044,404	40	38	39		54,54	2.3	1	19	dbSNP_111	39	3190,5408		600,1990,1709	no	coding-synonymous,coding-synonymous	CCDC124	NM_001136203.1,NM_138442.3	,	1355,3034,2113	GG,GT,TT		37.1017,42.0336,44.171	,	18/224,18/224	18047283	5744,7260	2203	4299	6502	SO:0001819	synonymous_variant	115098	exon2			GGCACGTAGGGCA	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.54T>G	19.37:g.18047283T>G		Somatic	166	2		WXS	Illumina GAIIx	Phase_I	306	11	NM_138442	0	1	138	139	0		Silent	SNP	ENST00000597436.1	37	CCDS12369.1																																																																																			T|0.594;G|0.406		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		G	18047283	T	G	18047283	2	3	19	1	0	0	0	0	0	0	0	1	2767	1625	57	5		5	CCDC124	19	18047283	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	424669	18047283	41081700	80	3746											
FAM187B	148109	bcgsc.ca	37	chr19	35719257	35719257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggtgacatcctgaaaGtcaatttcatactgcaccac	9	10	2	2	rs11673347	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:35719257G>A	ENST00000324675.3	-	1	375	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	109						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CATCCTGAAAGTCAATTTCAT	0.527													-|||	1423	0.284145	0.1346	0.3732	5008	,	,		18895	0.0357		0.5944	False		,,,				2504	0.3599				p.D109D		.											.	FAM187B-92	0			c.C327T						.	G		893,3513	344.4+/-308.1	90,713,1400	106	93	98		327	3.2	1	19	dbSNP_120	98	5135,3465	635.9+/-399.0	1542,2051,707	no	coding-synonymous	FAM187B	NM_152481.1		1632,2764,2107	AA,AG,GG		40.2907,20.2678,46.3478		109/370	35719257	6028,6978	2203	4300	6503	SO:0001819	synonymous_variant	148109	exon1			CTGAAAGTCAATT	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.327C>T	19.37:g.35719257G>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	172	6	NM_152481	0	0	0	0	0	Q8N7G6	Silent	SNP	ENST00000324675.3	37	CCDS12448.1																																																																																			G|0.613;A|0.386		0.527	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35719257	G	A	35719257	2	1	19	1	0	0	0	0	0	0	0	1	5532	1020	36	3		3	FAM187B	19	35719257	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	17671974	35719257	23409726	81	3747											
SPTBN4	57731	hgsc.bcm.edu	37	chr19	41073913	41073913	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgcggcggcggagcaggtGcggccacgaccggagcgcca	18	16	0	0			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:41073913G>C	ENST00000352632.3	+	31	6767	c.6681G>C	c.(6679-6681)gtG>gtC	p.V2227V	SPTBN4_ENST00000392025.1_Silent_p.V970V|SPTBN4_ENST00000598249.1_Silent_p.V2227V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2227					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)			CGGAGCAGGTGCGGCCACGAC	0.761																																					p.V2227V		.											.	SPTBN4-94	0			c.G6681C						.						4	5	4					19																	41073913		1804	3527	5331	SO:0001819	synonymous_variant	57731	exon31			GCAGGTGCGGCCA	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.6681G>C	19.37:g.41073913G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_020971	0	0	0	0	0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			.		0.761	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			C	41073913	G	C	41073913	2	2	19	1	0	0	0	0	0	0	0	1	15168	1306	46	3		3	SPTBN4	19	41073913	Silent	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	5354656	41073913	18055070	82	3748											
ZNF227	7770	bcgsc.ca	37	chr19	44739303	44739303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcattagtgatggctccaaTcagaaattacccttaggaga	8	8	2	3	rs2279073	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:44739303T>C	ENST00000313040.7	+	6	925	c.720T>C	c.(718-720)aaT>aaC	p.N240N	ZNF227_ENST00000391961.2_Silent_p.N189N|ZNF227_ENST00000589005.1_Silent_p.N189N	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATGGCTCCAATCAGAAATTAC	0.423													T|||	2095	0.418331	0.115	0.4841	5008	,	,		18758	0.4286		0.5417	False		,,,				2504	0.6442				p.N240N		.											.	ZNF227-91	0			c.T720C						.	T		887,3519	339.4+/-305.8	108,671,1424	55	56	56		720	-0.8	0	19	dbSNP_100	56	4712,3888	603.4+/-394.7	1309,2094,897	no	coding-synonymous	ZNF227	NM_182490.1		1417,2765,2321	CC,CT,TT		45.2093,20.1316,43.0494		240/800	44739303	5599,7407	2203	4300	6503	SO:0001819	synonymous_variant	7770	exon6			CTCCAATCAGAAA	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.720T>C	19.37:g.44739303T>C		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_182490	0	0	15	15	0	B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																			T|0.587;C|0.413		0.423	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		C	44739303	T	C	44739303	2	2	19	1	0	0	0	0	0	0	0	1	17829	1432	50	4		4	ZNF227	19	44739303	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10	3665390	44739303	14389680	83	3749											
SIX5	147912	hgsc.bcm.edu	37	chr19	46269148	46269148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggtgcctagggcgtgagCctctgggagagcagggctgg	20	8	1	2			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:46269148C>T	ENST00000317578.6	-	3	2212	c.1831G>A	c.(1831-1833)Gct>Act	p.A611T	AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	611					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGGGCGTGAGCCTCTGGGAGA	0.726																																					p.A611T		.											.	SIX5-91	0			c.G1831A						.						10	13	12					19																	46269148		2180	4277	6457	SO:0001583	missense	147912	exon3			CGTGAGCCTCTGG	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1831G>A	19.37:g.46269148C>T	ENSP00000316842:p.Ala611Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	16	NM_175875	0	0	30	50	20		Missense_Mutation	SNP	ENST00000317578.6	37	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	3.818	-0.038394	0.07497	.	.	ENSG00000177045	ENST00000317578	D	0.91068	-2.78	3.34	-0.258	0.12975	.	2.999920	0.01431	N	0.014734	T	0.79411	0.4441	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67515	-0.5651	10	0.48119	T	0.1	-2.2107	1.8092	0.03087	0.211:0.4612:0.2055:0.1223	.	611	Q8N196	SIX5_HUMAN	T	611	ENSP00000316842:A611T	ENSP00000316842:A611T	A	-	1	0	SIX5	50960988	0.044000	0.20184	0.016000	0.15963	0.130000	0.20726	1.016000	0.29976	0.050000	0.15949	0.555000	0.69702	GCT	.		0.726	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		T	46269148	C	T	46269148	3	4	19	1	0	0	0	0	1	0	0	0	14395	739	26	3	392	3	SIX5	19	46269148	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	1529845	46269148	12859835	84	3750											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_000960	0	0	0	1	1		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	19	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	858176	47127324	12001659	85	3751											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_033089	0	0	0	1	1	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	19	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5JQ-01A-11D-A29I-10		278515	62747005	86	3752											
COX4I2	84701	bcgsc.ca	37	chr20	30232673	30232673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagggcctggcctcccGctgggactatgagaagaagc	15	11	0	2	rs11907253	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:30232673G>A	ENST00000376075.3	+	5	557	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	161			R -> H (in dbSNP:rs11907253). {ECO:0000269|PubMed:11311561}.		cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTGGCCTCCCGCTGGGACTAT	0.627													G|||	287	0.0573083	0.0961	0.0764	5008	,	,		16625	0.001		0.0815	False		,,,				2504	0.0245				p.R161H		.											.	COX4I2-227	0			c.G482A						.	G	HIS/ARG	411,3995	201.1+/-224.2	12,387,1804	73	64	67		482	-1.1	0.6	20	dbSNP_120	67	702,7898	172.9+/-223.5	33,636,3631	yes	missense	COX4I2	NM_032609.2	29	45,1023,5435	AA,AG,GG		8.1628,9.3282,8.5576	benign	161/172	30232673	1113,11893	2203	4300	6503	SO:0001583	missense	84701	exon5			CCTCCCGCTGGGA	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.482G>A	20.37:g.30232673G>A	ENSP00000365243:p.Arg161His	Somatic	171	3		WXS	Illumina GAIIx	Phase_I	176	8	NM_032609	0	0	7	7	0	Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	CCDS13187.1	164	0.07509157509157509	55	0.11178861788617886	41	0.1132596685082873	1	0.0017482517482517483	67	0.08839050131926121	G	11.36	1.615359	0.28801	0.093282	0.081628	ENSG00000131055	ENST00000376075	T	0.55930	0.49	4.38	-1.06	0.10002	.	0.324544	0.28442	N	0.015337	T	0.00412	0.0013	N	0.02916	-0.46	0.39291	P	0.035267999999999966	B	0.06786	0.001	B	0.04013	0.001	T	0.06127	-1.0844	9	0.35671	T	0.21	-17.387	7.746	0.28869	0.4725:0.0:0.5275:0.0	rs11907253;rs57114915;rs11907253	161	Q96KJ9	COX42_HUMAN	H	161	ENSP00000365243:R161H	ENSP00000365243:R161H	R	+	2	0	COX4I2	29696334	0.997000	0.39634	0.583000	0.28640	0.836000	0.47400	1.246000	0.32803	-0.361000	0.08125	-1.305000	0.01319	CGC	G|0.919;A|0.081		0.627	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		A	30232673	G	A	30232673	3	1	19	1	0	0	0	0	1	0	0	0	3777	1087	38	1	496	1	COX4I2	20	30232673	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10	29954158	30232673	32792847	87	3753											
DIDO1	11083	hgsc.bcm.edu	37	chr20	61510599	61510599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtctaggcctgcgaggCggtgccagcgtcggaggccc	19	13	1	0			TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr20:61510599C>T	ENST00000266070.4	-	16	7034	c.6709G>A	c.(6709-6711)Gcc>Acc	p.A2237T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2237T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2237					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)					GCCTGCGAGGCGGTGCCAGCG	0.627																																					p.A2237T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G6709A						.						7	6	6					20																	61510599		2122	4168	6290	SO:0001583	missense	11083	exon16			GCGAGGCGGTGCC	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.6709G>A	20.37:g.61510599C>T	ENSP00000266070:p.Ala2237Thr	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	33	14	NM_001193369	0	0	1	2	1	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	9.967	1.224295	0.22457	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.37	0.911	0.19343	.	.	.	.	.	T	0.05044	0.0135	L	0.29908	0.895	0.18873	N	0.999988	B	0.24533	0.105	B	0.12837	0.008	T	0.40683	-0.9550	9	0.45353	T	0.12	2.5534	0.8114	0.01094	0.1821:0.39:0.202:0.226	.	2237	Q9BTC0	DIDO1_HUMAN	T	2237	ENSP00000266070:A2237T;ENSP00000378752:A2237T	ENSP00000266070:A2237T	A	-	1	0	DIDO1	60981044	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	-0.192000	0.09587	0.502000	0.28037	0.467000	0.42956	GCC	.		0.627	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61510599	C	T	61510599	3	4	19	1	0	0	0	0	1	0	0	0	4536	768	27	1	17	1	DIDO1	20	61510599	Missense_Mutation	SNP	C	TCGA-OR-A5JQ-01A-11D-A29I-10	31277926	61510599	1514921	88	3754											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780296	20780296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtggcggggtcaggtGgcggcggtttcctgcgctcg	20	10	1	0	rs9680797	byFrequency	TCGA-OR-A5JQ-01A-11D-A29I-10	TCGA-OR-A5JQ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e3b59a5b-bc3e-46eb-b2b9-44a50b5f4564	9b271d36-bb48-4d62-86ed-1660f35ce5c0	g.chr22:20780296G>A	ENST00000266214.5	-	11	2086	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SCARF2_ENST00000405555.3_Missense_Mutation_p.P656L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	661	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGTCAGGTGGCGGCGGTTT	0.756													g|||	68	0.0135783	8e-04	0.0303	5008	,	,		7971	0		0.0398	False		,,,				2504	0.0061				p.P661L		.											.	SCARF2-341	0			c.C1982T						.		LEU/PRO,LEU/PRO	27,4371		0,27,2172	16	20	19		1982,1967	3.4	0.9	22	dbSNP_119	19	316,8274		10,296,3989	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	98,98	10,323,6161	AA,AG,GG		3.6787,0.6139,2.6409	probably-damaging,probably-damaging	661/871,656/866	20780296	343,12645	2199	4295	6494	SO:0001583	missense	91179	exon11			TCAGGTGGCGGCG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1982C>T	22.37:g.20780296G>A	ENSP00000266214:p.Pro661Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	19	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	43	0.019688644688644688	4	0.008130081300813009	9	0.024861878453038673	0	0.0	30	0.0395778364116095	g	15.57	2.873045	0.51695	0.006139	0.036787	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22539	2.01;1.95	3.38	3.38	0.38709	.	0.084416	0.47093	U	0.000259	T	0.07458	0.0188	L	0.29908	0.895	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.01405	-1.1363	10	0.11485	T	0.65	.	12.6984	0.57018	0.0:0.0:1.0:0.0	rs9680797	656;656	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	656;656;661	ENSP00000385589:P656L;ENSP00000266214:P661L	ENSP00000266214:P661L	P	-	2	0	SCARF2	19110296	1.000000	0.71417	0.865000	0.33974	0.132000	0.20833	8.286000	0.89916	1.917000	0.55516	0.441000	0.28932	CCA	G|0.977;A|0.023		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			A	20780296	G	A	20780296	3	1	19	1	0	0	0	0	1	0	0	0	13929	1348	47	3	634	3	SCARF2	22	20780296	Missense_Mutation	SNP	G	TCGA-OR-A5JQ-01A-11D-A29I-10		20780296	30524270	89	3755											
LCE1E	353135	bcgsc.ca	37	chr1	152760096	152760096	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggggctccagctgctgtggAgggggcagcggccagcactc	19	12	0	0	rs115864544	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr1:152760096A>T	ENST00000368770.3	+	2	374	c.321A>T	c.(319-321)ggA>ggT	p.G107G	LCE1E_ENST00000368771.1_Silent_p.G107G	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	107	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGAGGGGGCAGCG	0.622													A|||	882	0.176118	0.239	0.1383	5008	,	,		14571	0.2639		0.0616	False		,,,				2504	0.1452				p.G107G		.											.	LCE1E-90	0			c.A321T						.	A		397,3855		43,311,1772	39	58	52		321	1.2	1	1	dbSNP_132	52	221,8299		15,191,4054	no	coding-synonymous	LCE1E	NM_178353.1		58,502,5826	TT,TA,AA		2.5939,9.3368,4.8387		107/119	152760096	618,12154	2126	4260	6386	SO:0001819	synonymous_variant	353135	exon2			CTGTGGAGGGGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.321A>T	1.37:g.152760096A>T		Somatic	170	29		WXS	Illumina GAIIx	Phase_I	80	49	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			A|0.901;T|0.099		0.622	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		T	152760096	A	T	152760096	2	4	20	1	0	0	0	0	0	0	0	1	8691	291	11	5		5	LCE1E	1	152760096	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		152760096	96490525	1	3756											
LOR	4014	hgsc.bcm.edu	37	chr1	153233578	153233578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcggttctggctgCggctactccggcggcggtgg	19	11	1	0	rs1143389	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr1:153233578C>T	ENST00000368742.3	+	2	210	c.153C>T	c.(151-153)tgC>tgT	p.C51C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	51					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gttctggctgcggctactccg	0.796													C|||	1003	0.20028	0.034	0.147	5008	,	,		4886	0.3194		0.1412	False		,,,				2504	0.4008				p.C51C		.											.	LOR-90	0			c.C153T						.	C		83,2085		3,77,1004	2	2	2		153	-7.2	0	1	dbSNP_86	2	743,3969		44,655,1657	no	coding-synonymous	LOR	NM_000427.2		47,732,2661	TT,TC,CC		15.7683,3.8284,12.0058		51/313	153233578	826,6054	1084	2356	3440	SO:0001819	synonymous_variant	4014	exon2			TGGCTGCGGCTAC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.153C>T	1.37:g.153233578C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			C|0.818;T|0.182		0.796	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		T	153233578	C	T	153233578	2	4	20	1	0	0	0	0	0	0	0	1	8932	776	27	1		1	LOR	1	153233578	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	473482	153233578	96017043	2	3757											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	20	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JR-01A-11D-A29I-10	25817722	179051300	70199321	3	3758											
LGTN	1939	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	206784680	206784680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctaactcagagacttgatcaGttccaagggtggggaaagca	12	8	2	2			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr1:206784680G>C	ENST00000271764.2	-	2	312	c.104C>G	c.(103-105)aCt>aGt	p.T35S	EIF2D_ENST00000367114.3_Missense_Mutation_p.T35S	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	35					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GACTTGATCAGTTCCAAGGGT	0.478																																					p.T35S		.											.	EIF2D-92	0			c.C104G						.						112	96	102					1																	206784680		2203	4300	6503	SO:0001583	missense	1939	exon2			TGATCAGTTCCAA	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.104C>G	1.37:g.206784680G>C	ENSP00000271764:p.Thr35Ser	Somatic	136	1		WXS	Illumina GAIIx	Phase_I	132	96	NM_006893	0	0	3	17	14	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	4.769	0.142917	0.09083	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	T;T;T	0.44482	0.92;0.92;0.92	5.47	2.55	0.30701	.	0.487596	0.24007	N	0.042407	T	0.32255	0.0823	L	0.51422	1.61	0.09310	N	1	B;B;B	0.15473	0.013;0.012;0.009	B;B;B	0.21917	0.009;0.037;0.009	T	0.25222	-1.0138	10	0.15499	T	0.54	-9.3649	7.6659	0.28430	0.1498:0.1364:0.7138:0.0	.	35;35;35	B4DGD2;P41214-2;P41214	.;.;EIF2D_HUMAN	S	35	ENSP00000356081:T35S;ENSP00000271764:T35S;ENSP00000394685:T35S	ENSP00000271764:T35S	T	-	2	0	EIF2D	204851303	0.177000	0.23109	0.002000	0.10522	0.975000	0.68041	2.910000	0.48766	0.419000	0.25927	0.552000	0.68991	ACT	.		0.478	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		C	206784680	G	C	206784680	3	2	20	1	0	0	0	0	1	0	0	0	8789	1029	36	3	1706	3	LGTN	1	206784680	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	27733380	206784680	42465941	4	3759											
OR2T33	391195	broad.mit.edu	37	chr1	248436537	248436537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcagatgtacatggcgttttCgaagactgaagtgtcagcac	12	8	1	3			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr1:248436537C>G	ENST00000318021.2	-	1	601	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	194						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)			ATGGCGTTTTCGAAGACTGAA	0.532																																					p.E194Q		.											.	OR2T33-114	0			c.G580C						.						23	26	25					1																	248436537		2190	4271	6461	SO:0001583	missense	391195	exon1			CGTTTTCGAAGAC		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.580G>C	1.37:g.248436537C>G	ENSP00000324687:p.Glu194Gln	Somatic	609	0		WXS	Illumina GAIIx	Phase_I	666	19	NM_001004695	0	0	1	1	0	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	8.005	0.756214	0.15846	.	.	ENSG00000177212	ENST00000318021	T	0.00237	8.47	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35407	U	0.003231	T	0.00496	0.0016	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44574	-0.9319	10	0.72032	D	0.01	.	13.4017	0.60887	0.0:1.0:0.0:0.0	.	194	Q8NG76	O2T33_HUMAN	Q	194	ENSP00000324687:E194Q	ENSP00000324687:E194Q	E	-	1	0	OR2T33	246503160	0.000000	0.05858	0.011000	0.14972	0.024000	0.10985	0.037000	0.13840	1.338000	0.45544	0.494000	0.49563	GAA	.		0.532	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		G	248436537	C	G	248436537	3	3	20	1	0	0	0	0	1	0	0	0	11063	893	31	2	385	2	OR2T33	1	248436537	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	41651857	248436537	814084	5	3760											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	20	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		7005369	236194004	6	3761											
TTN	7273	bcgsc.ca	37	chr2	179421694	179421694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtcaagccagagatgAtgaattgagtttcagtaaca	10	6	3	5	rs9808377	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr2:179421694A>G	ENST00000591111.1	-	280	83488	c.83264T>C	c.(83263-83265)aTc>aCc	p.I27755T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I20523T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I29396T|TTN_ENST00000342992.6_Missense_Mutation_p.I26828T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20456T|TTN_ENST00000460472.2_Missense_Mutation_p.I20331T			Q8WZ42	TITIN_HUMAN	titin	27755	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> T. {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:7569978}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGAGATGATGAATTGAGT	0.463													G|||	2540	0.507188	0.5666	0.4049	5008	,	,		20211	0.7153		0.2495	False		,,,				2504	0.5501				p.I29396T		.											.	TTN-636	0			c.T88187C						.	G	THR/ILE,THR/ILE,THR/ILE,THR/ILE	2066,1878		556,954,462	92	95	94		61568,61367,80483,60992	-2.9	0.1	2	dbSNP_119	94	1831,6469		187,1457,2506	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	89,89,89,89	743,2411,2968	GG,GA,AA		22.0602,47.6166,31.8278	benign,benign,benign,benign	20523/27119,20456/27052,26828/33424,20331/26927	179421694	3897,8347	1972	4150	6122	SO:0001583	missense	7273	exon330			GAGATGATGAATT	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.83264T>C	2.37:g.179421694A>G	ENSP00000465570:p.Ile27755Thr	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	119	5	NM_001267550	0	0	0	0	0	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		979	0.4482600732600733	282	0.573170731707317	129	0.356353591160221	385	0.6730769230769231	183	0.24142480211081793	G	3.223	-0.159019	0.06544	0.523834	0.220602	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.87	-2.9	0.05648	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00044	-2.455	0.51482	P	7.299999999998974E-5	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.50617	-0.8807	8	0.87932	D	0	.	12.5594	0.56273	0.6079:0.0:0.3921:0.0	rs9808377;rs56743405;rs9808377	20331;20456;20523;27755	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	26828;20331;20523;20456;20328	ENSP00000343764:I26828T;ENSP00000434586:I20331T;ENSP00000340554:I20523T;ENSP00000352154:I20456T	ENSP00000340554:I20523T	I	-	2	0	TTN	179129940	0.202000	0.23423	0.094000	0.20943	0.170000	0.22686	0.686000	0.25392	-1.202000	0.02655	-0.726000	0.03593	ATC	A|0.549;G|0.451		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179421694	A	G	179421694	3	3	20	1	0	0	0	0	1	0	0	0	16784	333	12	4	19924	4	TTN	2	179421694	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	172416325	179421694	63777679	7	3762											
PRR21	643905	bcgsc.ca	37	chr2	240982243	240982243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccgtgggtgaagagccGtggatgaagggccatgggtg	21	6	0	3	rs80033040	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr2:240982243G>A	ENST00000408934.1	-	1	156	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	53	Pro-rich.							p.R53W(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						GTGAAGAGCCGTGGATGAAGG	0.582																																					p.R53W		.											.	PRR21-70	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	c.C157T						.						121	107	112					2																	240982243		2203	4300	6503	SO:0001583	missense	643905	exon1			AGAGCCGTGGATG	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.157C>T	2.37:g.240982243G>A	ENSP00000386166:p.Arg53Trp	Somatic	182	3		WXS	Illumina GAIIx	Phase_I	115	9	NM_001080835	0	0	0	0	0		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	7.137	0.581093	0.13686	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.19	-1.7	0.08159	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.56958	D	0.05	.	2.7336	0.05234	0.2267:0.299:0.4742:0.0	.	53	Q8WXC7	PRR21_HUMAN	W	53	ENSP00000386166:R53W;ENSP00000418240:R53W	ENSP00000386166:R53W	R	-	1	2	PRR21	240630916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.428000	0.07339	-0.481000	0.04817	CGG	G|0.966;A|0.034		0.582	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982243	G	A	240982243	3	1	20	1	0	0	0	0	1	0	0	0	12634	1144	40	1	1015	1	PRR21	2	240982243	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	61560549	240982243	2217130	8	3763											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	20	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		122631896	75390534	9	3764											
ADCY5	111	hgsc.bcm.edu	37	chr3	123167249	123167249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggagccgcgggcagaGcccccgggggcatgggggta	21	10	0	1	rs4678027	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr3:123167249G>A	ENST00000462833.1	-	1	1356	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	48					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGCGGGCAGAGCCCCCGGGGG	0.756													A|||	4941	0.986621	0.9501	0.9986	5008	,	,		7224	1		1	False		,,,				2504	1				p.G48G		.											.	ADCY5-94	0			c.C144T						.	A		2646,76		1285,76,0	2	2	2		144	-2.7	0.8	3	dbSNP_111	2	5980,0		2990,0,0	no	coding-synonymous	ADCY5	NM_183357.2		4275,76,0	AA,AG,GG		0.0,2.7921,0.8734		48/1262	123167249	8626,76	1361	2990	4351	SO:0001819	synonymous_variant	111	exon1			GGCAGAGCCCCCG	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.144C>T	3.37:g.123167249G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_183357	0	0	0	0	0	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	CCDS3022.1																																																																																			G|0.028;A|0.972		0.756	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123167249	G	A	123167249	2	1	20	1	0	0	0	0	0	0	0	1	297	958	34	3		3	ADCY5	3	123167249	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	535353	123167249	74855181	10	3765											
TACC3	10460	ucsc.edu	37	chr4	1729795	1729795	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccgcacggagccgaggaAgaatgcaaagcggagactcc	13	12	0	2	rs200539908	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr4:1729795A>G	ENST00000313288.4	+	4	772	c.666A>G	c.(664-666)gaA>gaG	p.E222E		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	222					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)			GAGCCGAGGAAGAATGCAAAG	0.617													-|||	192	0.0383387	0.056	0.0173	5008	,	,		16940	0.0129		0.0199	False		,,,				2504	0.0746				p.E222E	Ovarian(120;482 2294 11894 35824)	.											.	TACC3-91	0			c.A666G						.	A		135,4267		4,127,2070	20	22	21		666	0.8	0	4		21	86,8506		2,82,4212	no	coding-synonymous	TACC3	NM_006342.1		6,209,6282	GG,GA,AA		1.0009,3.0668,1.7008		222/839	1729795	221,12773	2201	4296	6497	SO:0001819	synonymous_variant	10460	exon4			CGAGGAAGAATGC	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.666A>G	4.37:g.1729795A>G		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	90	25	NM_006342	0	0	4	4	0	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																			A|0.992;G|0.008		0.617	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			G	1729795	A	G	1729795	2	3	20	1	0	0	0	0	0	0	0	1	15550	69	3	4		4	TACC3	4	1729795	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		1729795	189424481	11	3766											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044357	7044357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggctcctcagccccAacctcggccggctcttcggg	14	17	2	0	rs871133	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1		0.9702	False		,,,				2504	1				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3	3	3		309	-4.5	0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	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.309T>C	4.37:g.7044357A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_153376	0	0	0	4	4	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		G	7044357	A	G	7044357	2	3	20	1	0	0	0	0	0	0	0	1	2881	117	5	4		4	CCDC96	4	7044357	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	5314562	7044357	184109919	12	3767			1	14		2	2	24	N	C_A	5.349258e-05
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044380	7044380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggccggctcttcgggctCgggctggggctcggccggcc	18	16	1	0	rs871134	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr4:7044380C>T	ENST00000310085.4	-	1	348	c.286G>A	c.(286-288)Gag>Aag	p.E96K	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	96	Glu-rich.		E -> K (in dbSNP:rs871134). {ECO:0000269|PubMed:15489334}.							endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTTCGGGCTCGGGCTGGGGC	0.776													C|||	2561	0.511382	0.3623	0.4741	5008	,	,		11435	0.6429		0.5845	False		,,,				2504	0.5286				p.E96K		.											.	CCDC96-90	0			c.G286A						.	C	LYS/GLU	1411,1153		409,593,280	2	2	2		286	2.2	0	4	dbSNP_86	2	3789,2017		1333,1123,447	no	missense	CCDC96	NM_153376.2	56	1742,1716,727	TT,TC,CC		34.7399,44.9688,37.8734	benign	96/556	7044380	5200,3170	1282	2903	4185	SO:0001583	missense	257236	exon1			CGGGCTCGGGCTG	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.286G>A	4.37:g.7044380C>T	ENSP00000309285:p.Glu96Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_153376	0	0	0	2	2	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	1153	0.5279304029304029	172	0.34959349593495936	193	0.5331491712707183	349	0.6101398601398601	439	0.579155672823219	C	10.33	1.319932	0.23994	0.550312	0.652601	ENSG00000173013	ENST00000310085	T	0.54479	0.57	3.13	2.24	0.28232	.	0.882045	0.09267	N	0.825735	T	0.00012	0.0000	L	0.32530	0.975	0.45284	P	0.0017160000000000508	B	0.21147	0.052	B	0.09377	0.004	T	0.45585	-0.9251	9	0.14252	T	0.57	-0.0803	4.8536	0.13549	0.0:0.6921:0.0:0.3079	rs871134	96	Q2M329	CCD96_HUMAN	K	96	ENSP00000309285:E96K	ENSP00000309285:E96K	E	-	1	0	CCDC96	7095281	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.781000	0.26774	0.602000	0.29896	0.471000	0.43371	GAG	C|0.472;T|0.528		0.776	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		T	7044380	C	T	7044380	3	4	20	1	0	0	0	0	1	0	0	0	2881	893	31	1	1385	1	CCDC96	4	7044380	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	23	7044380	184109896	13	3768			1	14		2	2	24	N	C_A	5.349258e-05
PDCD6	10016	hgsc.bcm.edu	37	chr5	271858	271869	+	In_Frame_Del	DEL	CCGGCCCTGGGG	CCGGCCCTGGGG	-													ggccgcctactcttaccgccCcggccctggggccggccctg					rs529816592|rs147793210|rs201564379	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	CCGGCCCTGGGG	CCGGCCCTGGGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr5:271858_271869delCCGGCCCTGGGG	ENST00000264933.4	+	1	123_134	c.23_34delCCGGCCCTGGGG	c.(22-36)cccggccctggggcc>ccc	p.GPGA9del	PDCD6_ENST00000505221.1_In_Frame_Del_p.GPGA9del|PDCD6_ENST00000509581.1_In_Frame_Del_p.GPGA9del|CTD-2083E4.6_ENST00000512642.1_RNA|PDCD6_ENST00000507528.1_In_Frame_Del_p.GPGA9del	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.A12_G15delAGPG(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			TCTTACCGCCCCGGCCCTGGGGCCGGCCCTGG	0.741														513	0.102436	0.1316	0.1657	5008	,	,		10520	0.0546		0.0905	False		,,,				2504	0.0798				p.8_12del		.											.	PDCD6-290	2	Deletion - In frame(2)	breast(2)	c.23_34del						.			265,2557		60,145,1206						2.2	1		dbSNP_126	6	779,5791		158,463,2664	no	coding	PDCD6	NM_013232.3		218,608,3870	A1A1,A1R,RR		11.8569,9.3905,11.1158				1044,8348				SO:0001651	inframe_deletion	10016	exon1			ACCGCCCCGGCCC	AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.23_34delCCGGCCCTGGGG	5.37:g.271858_271869delCCGGCCCTGGGG	ENSP00000264933:p.Gly9_Ala12del	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	25	10	NM_013232	0	0	0	0	0	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	In_Frame_Del	DEL	ENST00000264933.4	37	CCDS3854.1																																																																																			.		0.741	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232		-	271869	CCGGCCCTGGGG	-	271858	7	5	20	1	0	1	0	1	0	0	0	0	11662	623	22	0	25	0	PDCD6	5	271858	In_Frame_Del	DEL	CCGGCCCTGGGG	TCGA-OR-A5JR-01A-11D-A29I-10		271858	180643402	14	3769											
NSUN2	54888	hgsc.bcm.edu	37	chr5	6633042	6633042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgccatcctccgcgtcCtccggccgctgctgttgctg	12	18	0	0	rs10062086	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000538824.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.E17E|SRD5A1_ENST00000537411.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					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						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2	3	2					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	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.51G>A	5.37:g.6633042C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_017755	0	0	4	9	5	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6633042	C	T	6633042	2	4	20	1	0	0	0	0	0	0	0	1	10717	680	24	3		3	NSUN2	5	6633042	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	6361184	6633042	174282218	15	3770											
C9	735	broad.mit.edu;bcgsc.ca	37	chr5	39341264	39341264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccatagcctgctgttcGtgccagctcagactcttcta	7	15	3	1	rs144138616		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr5:39341264G>A	ENST00000263408.4	-	4	555	c.460C>T	c.(460-462)Cga>Tga	p.R154*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.R154*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCTGCTGTTCGTGCCAGCTCA	0.458																																					p.R154X		.											.	C9-90	1	Substitution - Nonsense(1)	endometrium(1)	c.C460T	GRCh37	CM970207	C9	M	rs144138616	.	G	stop/ARG	0,4406		0,0,2203	110	110	110		460	3.6	0.5	5	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	C9	NM_001737.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		154/560	39341264	2,13004	2203	4300	6503	SO:0001587	stop_gained	735	exon4			CTGTTCGTGCCAG		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.460C>T	5.37:g.39341264G>A	ENSP00000263408:p.Arg154*	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	218	7	NM_001737	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	28.8	4.954200	0.92726	0.0	2.33E-4	ENSG00000113600	ENST00000263408	.	.	.	5.52	3.58	0.41010	.	0.119263	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5335	11.6329	0.51187	0.0:0.0:0.4847:0.5153	.	.	.	.	X	154	.	ENSP00000263408:R154X	R	-	1	2	C9	39377021	0.978000	0.34361	0.483000	0.27378	0.987000	0.75469	2.118000	0.41949	1.285000	0.44548	0.563000	0.77884	CGA	G|1.000;A|0.000		0.458	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			A	39341264	G	A	39341264	4	1	20	1	0	0	0	0	0	1	0	0	2450	1153	40	1	1251	1	C9	5	39341264	Nonsense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	32708222	39341264	141573996	16	3771											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	20	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	92808420	132149684	48765576	17	3772											
RUNX2	860	hgsc.bcm.edu	37	chr6	45390514	45390514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggctgcggcggcggcGgcggctgcggcggcggcagc	24	14	0	0			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr6:45390514G>A	ENST00000371438.1	+	2	601	c.243G>A	c.(241-243)gcG>gcA	p.A81A	RUNX2_ENST00000465038.2_Silent_p.A81A|RUNX2_ENST00000541979.1_Silent_p.A149A|RUNX2_ENST00000371436.6_Silent_p.A81A|RUNX2_ENST00000371432.3_Silent_p.A67A|RUNX2_ENST00000576263.1_Silent_p.A81A|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.A149A|RUNX2_ENST00000359524.5_Silent_p.A67A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	81	Poly-Ala.		Missing. {ECO:0000269|PubMed:9182765}.		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						cggcggcggcggcggctgcgg	0.726																																					p.A81A		.											.	RUNX2-417	0			c.G243A						.						3	5	5					6																	45390514		922	2241	3163	SO:0001819	synonymous_variant	860	exon3			GGCGGCGGCGGCT	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.243G>A	6.37:g.45390514G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_001024630	0	0	0	0	0	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																			.		0.726	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45390514	G	A	45390514	2	1	20	1	0	0	0	0	0	0	0	1	13793	1103	39	1		1	RUNX2	6	45390514	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		45390514	125724553	18	3773											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	20	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5JR-01A-11D-A29I-10	53892862	99283376	71831691	19	3774											
TTLL2	83887	bcgsc.ca	37	chr6	167753691	167753691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccggctgtggtgcaaagCgtcctcctggagagggggtg	17	11	0	1	rs877653	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr6:167753691C>T	ENST00000239587.5	+	3	391	c.303C>T	c.(301-303)agC>agT	p.S101S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	101	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGTGCAAAGCGTCCTCCTGG	0.542													C|||	1552	0.309904	0.1679	0.2824	5008	,	,		20342	0.5079		0.2664	False		,,,				2504	0.362				p.S101S		.											.	TTLL2-92	0			c.C303T						.	C		840,3566	329.6+/-301.1	80,680,1443	62	57	59		303	-6	0.2	6	dbSNP_86	59	2537,6063	415.1+/-351.7	364,1809,2127	no	coding-synonymous	TTLL2	NM_031949.4		444,2489,3570	TT,TC,CC		29.5,19.0649,25.9649		101/593	167753691	3377,9629	2203	4300	6503	SO:0001819	synonymous_variant	83887	exon3			GCAAAGCGTCCTC	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.303C>T	6.37:g.167753691C>T		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	125	6	NM_031949	0	0	0	0	0	B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	CCDS5301.1																																																																																			C|0.724;T|0.276		0.542	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		T	167753691	C	T	167753691	2	4	20	1	0	0	0	0	0	0	0	1	16776	767	27	1		1	TTLL2	6	167753691	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	68470315	167753691	3361376	20	3775											
SMOC2	64094	hgsc.bcm.edu	37	chr6	168842113	168842113	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgccggtgcccgcTcagaagttctcggcgctcac	11	18	3	1	rs73270928	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2	3	3		63,63	-0.4	1	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	31	25	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168842113	T	G	168842113	2	3	20	1	0	0	0	0	0	0	0	1	14847	1538	54	5		5	SMOC2	6	168842113	Silent	SNP	T	TCGA-OR-A5JR-01A-11D-A29I-10	1088422	168842113	2272954	21	3776											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5352635	5352635	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagaggaggaTgaggaggaggaggaggagga	25	0	0	2			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr7:5352635T>G	ENST00000430969.1	-	27	8235	c.7887A>C	c.(7885-7887)tcA>tcC	p.S2629S	TNRC18_ENST00000399537.4_Silent_p.S2629S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2629	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)		aagaggaggatgaggaggagg	0.642																																					p.S2629S		.											.	TNRC18-46	0			c.A7887C						.						5	8	7					7																	5352635		1423	3213	4636	SO:0001819	synonymous_variant	84629	exon27			GGAGGATGAGGAG	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.7887A>C	7.37:g.5352635T>G		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	24	9	NM_001080495	0	0	1	2	1	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.445364	0.01089	.	.	ENSG00000182095	ENST00000399544	.	.	.	3.4	-6.8	0.01709	.	1.000120	0.08080	N	1.000000	T	0.52853	0.1760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60979	-0.7155	6	0.87932	D	0	.	3.168	0.06542	0.3128:0.3903:0.1985:0.0984	.	.	.	.	P	1142	.	ENSP00000382459:H1142P	H	-	2	0	TNRC18	5319161	0.989000	0.36119	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-4.431000	0.00049	-3.452000	0.00036	CAT	.		0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5352635	T	G	5352635	2	3	20	1	0	0	0	0	0	0	0	1	16386	1451	51	5		5	TNRC18	7	5352635	Silent	SNP	T	TCGA-OR-A5JR-01A-11D-A29I-10		5352635	153786028	22	3777											
EPPK1	83481	bcgsc.ca	37	chr8	144940267	144940267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgttggggtcgaagaaGcccttggtgtcgtcgctggg	18	8	0	1	rs28441354		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr8:144940267G>A	ENST00000525985.1	-	2	7226	c.7155C>T	c.(7153-7155)ggC>ggT	p.G2385G				P58107	EPIPL_HUMAN	epiplakin 1	2385						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)			GGTCGAAGAAGCCCTTGGTGT	0.642																																					p.G2385G		.											.	EPPK1-25	0			c.C7155T						.						274	257	263					8																	144940267		2190	4273	6463	SO:0001819	synonymous_variant	83481	exon1			GAAGAAGCCCTTG	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.7155C>T	8.37:g.144940267G>A		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	322	14	NM_031308	0	0	1	1	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				G|0.995;A|0.005		0.642	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940267	G	A	144940267	2	1	20	1	0	0	0	0	0	0	0	1	5206	958	34	3		3	EPPK1	8	144940267	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		144940267	1423755	23	3778											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990528	144990528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggtgcgggagccAgcggtagagccggagccgct	19	13	0	1	rs7014582	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000345136.3_Silent_p.A4487A|PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000356346.3_Silent_p.A4473A|PLEC_ENST00000354589.3_Silent_p.A4487A|PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000398774.2_Silent_p.A4455A|PLEC_ENST00000436759.2_Silent_p.A4514A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12	16	15		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	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.13872T>C	8.37:g.144990528A>G		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	22	10	NM_201380	0	0	34	65	31	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144990528	A	G	144990528	2	3	20	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144990528	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	50261	144990528	1373494	24	3779											
C9orf66	157983	hgsc.bcm.edu	37	chr9	214706	214706	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtctgccccagtatcGggaggccagttccgcgctgg	15	15	1	0	rs540473	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr9:214706G>C	ENST00000382387.2	-	1	1187	c.691C>G	c.(691-693)Cga>Gga	p.R231G	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	231	Arg-rich.		R -> G (in dbSNP:rs540473).							central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCCCAGTATCGGGAGGCCAGT	0.791													C|||	2724	0.54393	0.4856	0.5504	5008	,	,		9921	0.7401		0.4324	False		,,,				2504	0.5307				p.R231G		.											.	C9orf66-514	0			c.C691G						.	C	GLY/ARG	1470,1990		362,746,622	3	4	4		691	1.7	0.9	9	dbSNP_83	4	2548,4318		590,1368,1475	no	missense	C9orf66	NM_152569.2	125	952,2114,2097	CC,CG,GG		37.1104,42.4855,38.9115	benign	231/296	214706	4018,6308	1730	3433	5163	SO:0001583	missense	157983	exon1			AGTATCGGGAGGC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.691C>G	9.37:g.214706G>C	ENSP00000371824:p.Arg231Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	1127	0.5160256410256411	240	0.4878048780487805	182	0.5027624309392266	387	0.6765734265734266	318	0.41952506596306066	.	6.200	0.405074	0.11754	0.424855	0.371104	ENSG00000183784	ENST00000382387	T	0.22743	1.94	3.91	1.74	0.24563	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	8	0.87932	D	0	.	11.1247	0.48310	0.0:0.4274:0.5726:0.0	rs540473;rs13292950	231	Q5T8R8	CI066_HUMAN	G	231	ENSP00000371824:R231G	ENSP00000371824:R231G	R	-	1	2	C9orf66	204706	0.960000	0.32886	0.885000	0.34714	0.005000	0.04900	0.456000	0.21859	0.370000	0.24538	-0.335000	0.08231	CGA	G|0.516;C|0.484		0.791	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	214706	G	C	214706	3	2	20	1	0	0	0	0	1	0	0	0	2497	1124	39	2	200	2	C9orf66	9	214706	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		214706	140998725	25	3780											
ZNF618	114991	bcgsc.ca	37	chr9	116810204	116810204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaacattgcctccaaccaGtcccgatcgccacctgctgt	6	17	0	0	rs12378906	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr9:116810204G>A	ENST00000374126.5	+	14	1377	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.Q333Q			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTCCAACCAGTCCCGATCGC	0.532													G|||	329	0.0656949	0.1203	0.0605	5008	,	,		21014	0		0.0885	False		,,,				2504	0.0399				p.Q333Q		.											.	ZNF618-22	0			c.G999A						.	G		467,3649		17,433,1608	75	78	77		999	3.6	1	9	dbSNP_120	77	715,7715		33,649,3533	yes	coding-synonymous	ZNF618	NM_133374.2		50,1082,5141	AA,AG,GG		8.4816,11.346,9.4213		333/862	116810204	1182,11364	2058	4215	6273	SO:0001819	synonymous_variant	114991	exon13			CAACCAGTCCCGA	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1278G>A	9.37:g.116810204G>A		Somatic	305	2		WXS	Illumina GAIIx	Phase_I	314	9	NM_133374	0	0	8	8	0	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																				G|0.927;A|0.073		0.532	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116810204	G	A	116810204	2	1	20	1	0	0	0	0	0	0	0	1	18090	1020	36	3		3	ZNF618	9	116810204	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	116595498	116810204	24403227	26	3781											
FPGS	2356	hgsc.bcm.edu	37	chr9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtctgcgcgcggcAtaacgacccaggtcgcggcg	16	15	1	0	rs11554717|rs10760502	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000393706.2_Missense_Mutation_p.I22V|FPGS_ENST00000373225.3_5'Flank|FPGS_ENST00000373245.1_Missense_Mutation_p.I22V|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		.											.	FPGS-90	0			c.A64G						.		VAL/ILE	2249,281		997,255,13	1	3	2		64	1.8	0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_004957	0	0	0	1	1	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.235;G|0.765		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130565267	A	G	130565267	3	3	20	1	0	0	0	0	1	0	0	0	6060	217	8	4	66	4	FPGS	9	130565267	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	13755063	130565267	10648164	27	3782											
MUC2	4583	broad.mit.edu	37	chr11	1092953	1092953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatcaccaccaccactaCggtgaccccaaccccaacac	3	22	1	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:1092953C>T	ENST00000441003.2	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Splice_Site_p.T1592M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1592M(1)|p.T1591M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.627																																					p.T1591M		.											.	MUC2-90	2	Substitution - Missense(2)	endometrium(2)	c.C4772T						.						54	86	74					11																	1092953		1812	3313	5125	SO:0001583	missense	4583	exon30			CCACTACGGTGAC	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.4772C>T	11.37:g.1092953C>T	ENSP00000415183:p.Thr1591Met	Somatic	112	1		WXS	Illumina GAIIx	Phase_I	136	9	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.179	-0.168424	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.16743	2.32;2.56	1.75	-0.619	0.11572	.	6.725620	0.00827	U	0.001636	T	0.08846	0.0219	.	.	.	0.09310	N	1	D	0.60575	0.988	B	0.34489	0.184	T	0.24548	-1.0157	9	0.32370	T	0.25	.	3.3423	0.07123	0.2481:0.5888:0.0:0.163	.	1591	E7EUV1	.	M	1591;1592	ENSP00000415183:T1591M;ENSP00000351956:T1592M	ENSP00000351956:T1592M	T	+	2	0	MUC2	1082953	0.064000	0.20934	0.000000	0.03702	0.189000	0.23516	1.615000	0.36922	-0.313000	0.08728	0.121000	0.15741	ACG	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092953	C	T	1092953	3	4	20	1	0	0	0	0	1	0	0	0	10013	536	19	1	4890	1	MUC2	11	1092953	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10		1092953	133913563	28	3783											
OR51F1	256892	bcgsc.ca	37	chr11	4790671	4790671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggagcaaaagtagtggCaatattagtactatagcacg	10	5	0	0	rs11033795	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:4790671C>T	ENST00000380383.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L	OR51F1_ENST00000343430.3_Silent_p.L159L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAGTAGTGGCAATATTAGTA	0.403													T|||	1080	0.215655	0.4569	0.2017	5008	,	,		22619	0		0.2704	False		,,,				2504	0.0654				p.L159L		.											.	OR51F1-70	0			c.G477A						.	T		1968,2434	618.7+/-393.2	445,1078,678	115	115	115		477	-8.8	0	11	dbSNP_120	115	2179,6417	712.2+/-405.9	291,1597,2410	no	coding-synonymous	OR51F1	NM_001004752.1		736,2675,3088	TT,TC,CC		25.349,44.707,31.9049		159/313	4790671	4147,8851	2201	4298	6499	SO:0001819	synonymous_variant	256892	exon1			TAGTGGCAATATT	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.498G>A	11.37:g.4790671C>T		Somatic	155	1		WXS	Illumina GAIIx	Phase_I	144	6	NM_001004752	0	0	0	0	0		Silent	SNP	ENST00000380383.1	37																																																																																				C|0.706;T|0.294		0.403	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		T	4790671	C	T	4790671	2	4	20	1	0	0	0	0	0	0	0	1	11135	709	25	3		3	OR51F1	11	4790671	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	3697718	4790671	130215845	29	3784											
ZDHHC13	54503	broad.mit.edu	37	chr11	19185906	19185906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacattttgtacatcatGtcttgtgagttttttcatat	6	6	3	2			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:19185906G>T	ENST00000446113.2	+	12	1413	c.1292G>T	c.(1291-1293)tGt>tTt	p.C431F	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C301F	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	431					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TGTACATCATGTCTTGTGAGT	0.343																																					p.C431F		.											.	ZDHHC13-90	0			c.G1292T						.						147	133	137					11																	19185906		1836	4081	5917	SO:0001583	missense	54503	exon12			CATCATGTCTTGT	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1292G>T	11.37:g.19185906G>T	ENSP00000400113:p.Cys431Phe	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	65	3	NM_019028	0	0	0	0	0	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977058	0.74360	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.56103	0.48;0.48	5.59	5.59	0.84812	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.040866	0.85682	D	0.000000	D	0.82568	0.5065	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88495	0.3078	10	0.87932	D	0	20.286	16.4967	0.84247	0.0:0.0:1.0:0.0	.	431	Q8IUH4	ZDH13_HUMAN	F	431;301	ENSP00000400113:C431F;ENSP00000382288:C301F	ENSP00000382288:C301F	C	+	2	0	ZDHHC13	19142482	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.915000	0.69973	2.640000	0.89533	0.557000	0.71058	TGT	.		0.343	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		T	19185906	G	T	19185906	3	4	20	1	0	0	0	0	1	0	0	0	17651	1377	48	3	1338	3	ZDHHC13	11	19185906	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	14395235	19185906	115820610	30	3785											
CCDC34	91057	bcgsc.ca	37	chr11	27362359	27362359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttttctcctgtattTcagcttgctgttgtttttct	5	9	3	0	rs17244028	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:27362359T>G	ENST00000328697.6	-	5	1464	c.791A>C	c.(790-792)gAa>gCa	p.E264A	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	264			E -> A (in dbSNP:rs17244028). {ECO:0000269|Ref.6}.							endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CTCCTGTATTTCAGCTTGCTG	0.338													T|||	808	0.161342	0.056	0.2637	5008	,	,		16669	0.0734		0.34	False		,,,				2504	0.138				p.E264A		.											.	CCDC34-90	0			c.A791C						.	T	ALA/GLU	479,3925	223.3+/-239.8	26,427,1749	155	144	148		791	5.9	1	11	dbSNP_123	148	3029,5569	467.1+/-367.0	545,1939,1815	yes	missense	CCDC34	NM_030771.1	107	571,2366,3564	GG,GT,TT		35.2291,10.8765,26.9805	probably-damaging	264/374	27362359	3508,9494	2202	4299	6501	SO:0001583	missense	91057	exon5			TGTATTTCAGCTT	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.791A>C	11.37:g.27362359T>G	ENSP00000330240:p.Glu264Ala	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	64	5	NM_030771	0	0	15	15	0	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	433	0.19826007326007325	33	0.06707317073170732	100	0.27624309392265195	40	0.06993006993006994	260	0.34300791556728233	T	13.88	2.367807	0.42003	0.108765	0.352291	ENSG00000109881	ENST00000328697	T	0.25250	1.81	5.92	5.92	0.95590	.	0.067529	0.56097	D	0.000022	T	0.00012	0.0000	L	0.49455	1.56	0.09310	P	1.0	D	0.52996	0.957	P	0.59595	0.86	T	0.44697	-0.9311	9	0.48119	T	0.1	-10.9812	11.2236	0.48871	0.0:0.0:0.1532:0.8468	rs17244028;rs52822831;rs17244028	264	Q96HJ3	CCD34_HUMAN	A	264	ENSP00000330240:E264A	ENSP00000330240:E264A	E	-	2	0	CCDC34	27318935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.873000	0.56093	2.266000	0.75297	0.533000	0.62120	GAA	T|0.772;G|0.228		0.338	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		G	27362359	T	G	27362359	3	3	20	1	0	0	0	0	1	0	0	0	2814	1783	62	5	338	5	CCDC34	11	27362359	Missense_Mutation	SNP	T	TCGA-OR-A5JR-01A-11D-A29I-10	8176453	27362359	107644157	31	3786											
WT1	7490	hgsc.bcm.edu	37	chr11	32456694	32456694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagcccatttgctgCggctcagacccggacgcccc	12	17	1	1	rs2234582	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1_ENST00000448076.3_Silent_p.P66P|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2	3	3		198,198,198	1.2	0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456694	C	A	32456694	2	1	20	1	0	0	0	0	0	0	0	1	17457	755	27	2		2	WT1	11	32456694	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	5094335	32456694	102549822	32	3787											
OR4A16	81327	ucsc.edu;bcgsc.ca	37	chr11	55111584	55111584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatctctggtgtgaaaAgttaagtatagttagaaaaa	9	2	1	2	rs10896659	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:55111584A>T	ENST00000314721.2	+	1	958	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	303			K -> M (in dbSNP:rs10896659).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTGTGAAAAGTTAAGTATA	0.323													.|||	2066	0.41254	0.1853	0.5504	5008	,	,		18442	0.5387		0.494	False		,,,				2504	0.408				p.K303M		.											.	OR4A16-69	0			c.A908T						.	A	MET/LYS	1017,3385	362.1+/-316.0	130,757,1314	36	36	36		908	1.8	0	11	dbSNP_120	36	4172,4418	547.8+/-385.2	1032,2108,1155	yes	missense	OR4A16	NM_001005274.1	95	1162,2865,2469	TT,TA,AA		48.5681,23.1031,39.94	benign	303/329	55111584	5189,7803	2201	4295	6496	SO:0001583	missense	81327	exon1			GTGAAAAGTTAAG	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.908A>T	11.37:g.55111584A>T	ENSP00000325128:p.Lys303Met	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	19	18	NM_001005274	0	0	0	0	0	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	965	0.44184981684981683	68	0.13821138211382114	207	0.5718232044198895	307	0.5367132867132867	383	0.5052770448548812	a	10.04	1.242232	0.22796	0.231031	0.485681	ENSG00000181961	ENST00000314721	T	0.39592	1.07	3.02	1.79	0.24919	.	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.23249	0.082	B	0.22601	0.04	T	0.41288	-0.9517	8	0.49607	T	0.09	.	6.2828	0.21017	0.7663:0.0:0.0:0.2337	rs10896659;rs52838177;rs58877730;rs10896659	303	Q8NH70	O4A16_HUMAN	M	303	ENSP00000325128:K303M	ENSP00000325128:K303M	K	+	2	0	OR4A16	54868160	0.017000	0.18338	0.018000	0.16275	0.016000	0.09150	1.722000	0.38042	0.320000	0.23234	0.346000	0.21813	AAG	A|0.589;T|0.411		0.323	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55111584	A	T	55111584	3	4	20	1	0	0	0	0	1	0	0	0	11080	72	3	5	910	5	OR4A16	11	55111584	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	22654890	55111584	79894932	33	3788											
NUMA1	4926	bcgsc.ca	37	chr11	71717106	71717106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccccactggacaccccGgcctgggaacgacgagcaga	15	15	0	1	rs61745941	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:71717106G>A	ENST00000393695.3	-	22	5998	c.5667C>T	c.(5665-5667)gcC>gcT	p.A1889A	NUMA1_ENST00000351960.6_Silent_p.A753A|NUMA1_ENST00000358965.6_Silent_p.A1875A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGACACCCCGGCCTGGGAAC	0.597			T	RARA	APL								G|||	219	0.04373	0.0189	0.0447	5008	,	,		18923	0.0823		0.0348	False		,,,				2504	0.046				p.A1889A		.		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	NUMA1-633	0			c.C5667T						.	G		80,4320	67.0+/-104.6	1,78,2121	58	69	65		5667	-10.2	0.1	11	dbSNP_129	65	235,8351	93.1+/-155.1	4,227,4062	no	coding-synonymous	NUMA1	NM_006185.2		5,305,6183	AA,AG,GG		2.737,1.8182,2.4257		1889/2116	71717106	315,12671	2200	4293	6493	SO:0001819	synonymous_variant	4926	exon22			CACCCCGGCCTGG	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5667C>T	11.37:g.71717106G>A		Somatic	82	1		WXS	Illumina GAIIx	Phase_I	94	6	NM_006185	0	0	80	80	0		Silent	SNP	ENST00000393695.3	37	CCDS31633.1	104	0.047619047619047616	17	0.034552845528455285	15	0.04143646408839779	49	0.08566433566433566	23	0.030343007915567283	G	6.573	0.474061	0.12521	0.018182	0.02737	ENSG00000137497	ENST00000541584	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.43271	D	0.995225	.	.	.	.	.	.	T	0.56505	-0.7968	4	.	.	.	.	10.9463	0.47301	0.1966:0.0869:0.6301:0.0864	rs61745941	.	.	.	L	738	.	.	P	-	2	0	NUMA1	71394754	0.055000	0.20627	0.086000	0.20670	0.764000	0.43329	-1.306000	0.02735	-2.382000	0.00593	-1.202000	0.01658	CCG	G|0.969;A|0.031		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			A	71717106	G	A	71717106	2	1	20	1	0	0	0	0	0	0	0	1	10789	1103	39	1		1	NUMA1	11	71717106	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	16605522	71717106	63289410	34	3789											
PGM2L1	283209	bcgsc.ca	37	chr11	74109166	74109166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtggtagggggcgtggAgcaggttggagttcagatcc	20	6	1	1	rs12049823	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr11:74109166A>G	ENST00000298198.4	-	1	352	c.41T>C	c.(40-42)cTc>cCc	p.L14P	RP11-702H23.4_ENST00000533008.1_RNA|MIR548AL_ENST00000578416.1_RNA|RP11-702H23.4_ENST00000531906.1_RNA	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	14			L -> P (in dbSNP:rs12049823). {ECO:0000269|PubMed:15489334}.		glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GGGGGCGTGGAGCAGGTTGGA	0.672													A|||	941	0.187899	0.112	0.1311	5008	,	,		13499	0.2669		0.161	False		,,,				2504	0.2771				p.L14P		.											.	PGM2L1-91	0			c.T41C						.	A	PRO/LEU	514,3886	234.6+/-247.4	28,458,1714	124	113	117		41	3.7	1	11	dbSNP_120	117	1284,7302	253.9+/-279.4	102,1080,3111	yes	missense	PGM2L1	NM_173582.3	98	130,1538,4825	GG,GA,AA		14.9546,11.6818,13.8457	benign	14/623	74109166	1798,11188	2200	4293	6493	SO:0001583	missense	283209	exon1			GCGTGGAGCAGGT	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.41T>C	11.37:g.74109166A>G	ENSP00000298198:p.Leu14Pro	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	84	5	NM_173582	0	0	1	1	0	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	395	0.18086080586080586	57	0.11585365853658537	46	0.1270718232044199	163	0.28496503496503495	129	0.17018469656992086	A	13.57	2.275855	0.40294	0.116818	0.149546	ENSG00000165434	ENST00000298198	T	0.18174	2.23	4.87	3.72	0.42706	.	0.431607	0.21265	N	0.077402	T	0.00012	0.0000	L	0.52573	1.65	0.19575	P	0.9999695974	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	9	0.62326	D	0.03	-5.4947	5.7867	0.18336	0.8788:0.0:0.1212:0.0	rs12049823;rs17854987;rs61002785;rs12049823	14	Q6PCE3	PGM2L_HUMAN	P	14	ENSP00000298198:L14P	ENSP00000298198:L14P	L	-	2	0	PGM2L1	73786814	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.992000	0.40737	2.037000	0.60232	0.379000	0.24179	CTC	A|0.843;G|0.157		0.672	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		G	74109166	A	G	74109166	3	3	20	1	0	0	0	0	1	0	0	0	11838	304	11	4	1883	4	PGM2L1	11	74109166	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	2392060	74109166	60897350	35	3790											
AKAP3	10566	bcgsc.ca	37	chr12	4737042	4737042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagggtccctgtgacgctGtggagattcctcaagaagga	14	8	1	4	rs7972737	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr12:4737042G>A	ENST00000545990.2	-	5	1550	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	AKAP3_ENST00000228850.1_Silent_p.H342H|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	342					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTGTGACGCTGTGGAGATTCC	0.488													G|||	1425	0.284545	0.0371	0.4625	5008	,	,		23282	0.2073		0.5258	False		,,,				2504	0.3241				p.H342H		.											.	AKAP3-292	0			c.C1026T						.	G		482,3924	224.3+/-240.5	40,402,1761	157	149	152		1026	3.8	1	12	dbSNP_116	152	4404,4196	585.5+/-391.9	1154,2096,1050	no	coding-synonymous	AKAP3	NM_006422.2		1194,2498,2811	AA,AG,GG		48.7907,10.9396,37.5673		342/854	4737042	4886,8120	2203	4300	6503	SO:0001819	synonymous_variant	10566	exon4			GACGCTGTGGAGA	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1026C>T	12.37:g.4737042G>A		Somatic	142	1		WXS	Illumina GAIIx	Phase_I	228	8	NM_006422	0	0	2	2	0	O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	CCDS8531.1																																																																																			G|0.653;A|0.347		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		A	4737042	G	A	4737042	2	1	20	1	0	0	0	0	0	0	0	1	452	1368	48	3		3	AKAP3	12	4737042	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		4737042	129114853	36	3791											
C12orf41	54934	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	49075305	49075305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccctccagacgaggGtgagagcatggacgatgagt	14	11	0	3			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr12:49075305G>A	ENST00000420613.2	-	2	158	c.111C>T	c.(109-111)caC>caT	p.H37H	KANSL2_ENST00000553086.1_Silent_p.H37H|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Silent_p.H220H	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	37					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											CCAGACGAGGGTGAGAGCATG	0.488																																					p.H37H		.											.	.	0			c.C111T						.						160	157	158					12																	49075305		2004	4176	6180	SO:0001819	synonymous_variant	54934	exon2			ACGAGGGTGAGAG	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.111C>T	12.37:g.49075305G>A		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	270	128	NM_017822	0	0	3	8	5	Q8N3B5|Q96CV0|Q9NX51	Silent	SNP	ENST00000420613.2	37	CCDS44869.1																																																																																			.		0.488	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		A	49075305	G	A	49075305	2	1	20	1	0	0	0	0	0	0	0	1	1692	1252	44	3		3	C12orf41	12	49075305	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	44338263	49075305	84776590	37	3792											
NAP1L1	4673	broad.mit.edu	37	chr12	76444319	76444319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaattcgcttacatcatcatCatcatcttcaatagcttctc	2	12	7	0			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr12:76444319C>T	ENST00000261182.8	-	12	1537	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	NAP1L1_ENST00000548044.1_Missense_Mutation_p.D310N|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D309N|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D283N|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D351N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D351N|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D351N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D288N|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D168N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D362N|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D168N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	351	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)				ACATCATCATCATCATCTTCA	0.358																																					p.D351N		.											.	NAP1L1-92	0			c.G1051A						.						69	70	70					12																	76444319		2203	4300	6503	SO:0001583	missense	4673	exon12			CATCATCATCATC		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.1051G>A	12.37:g.76444319C>T	ENSP00000261182:p.Asp351Asn	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	144	4	NM_004537	0	0	0	0	0	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620113	0.87460	.	.	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	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;P;D	0.67145	0.996;0.993;0.996;0.993;0.993;0.557;0.993	D;D;D;D;D;B;D	0.76071	0.981;0.956;0.987;0.956;0.956;0.368;0.956	T	0.73496	-0.3964	10	0.45353	T	0.12	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	351;309;362;351;283;288;351	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	N	351;345;351;283;288;168;309;351;351;168;362;310	ENSP00000261182:D351N;ENSP00000450236:D345N;ENSP00000376947:D351N;ENSP00000409795:D283N;ENSP00000448167:D288N;ENSP00000437507:D168N;ENSP00000444759:D309N;ENSP00000445008:D351N;ENSP00000447793:D351N;ENSP00000448007:D168N;ENSP00000447196:D362N;ENSP00000449649:D310N	ENSP00000261182:D351N	D	-	1	0	NAP1L1	74730586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.656000	0.90262	0.591000	0.81541	GAT	.		0.358	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		T	76444319	C	T	76444319	3	4	20	1	0	0	0	0	1	0	0	0	10194	826	29	3	140	3	NAP1L1	12	76444319	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	27369014	76444319	57407576	38	3793											
TMEM119	338773	hgsc.bcm.edu	37	chr12	108986112	108986112	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtagcaggcacagaccccagGagcagcaacagaaggatgag	14	10	0	3	rs10861953	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr12:108986112G>C	ENST00000392806.3	-	2	216	c.48C>G	c.(46-48)ctC>ctG	p.L16L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	16					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAGACCCCAGGAGCAGCAACA	0.662													G|||	986	0.196885	0.1384	0.1297	5008	,	,		16113	0.256		0.1759	False		,,,				2504	0.2843				p.L16L		.											.	TMEM119-69	0			c.C48G						.	G		571,3727		46,479,1624	10	11	11		48	0.4	0.1	12	dbSNP_120	11	1365,6937		115,1135,2901	no	coding-synonymous	TMEM119	NM_181724.2		161,1614,4525	CC,CG,GG		16.4418,13.2852,15.3651		16/284	108986112	1936,10664	2149	4151	6300	SO:0001819	synonymous_variant	338773	exon2			CCCCAGGAGCAGC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.48C>G	12.37:g.108986112G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_181724	0	0	0	2	2	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			G|0.822;C|0.178		0.662	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		C	108986112	G	C	108986112	2	2	20	1	0	0	0	0	0	0	0	1	16079	1161	41	3		3	TMEM119	12	108986112	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	32541793	108986112	24865783	39	3794											
FAM179B	23116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45542716	45542716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaccaccacatatcaaAaagagtttggaggaattact	6	9	2	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:45542716A>G	ENST00000361577.3	+	19	5329	c.5115A>G	c.(5113-5115)aaA>aaG	p.K1705K	FAM179B_ENST00000361462.2_Silent_p.K1758K|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1705										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACATATCAAAAAGAGTTTGG	0.333																																					p.K1705K		.											.	FAM179B-93	0			c.A5115G						.						76	74	75					14																	45542716		2203	4300	6503	SO:0001819	synonymous_variant	23116	exon19			TATCAAAAAGAGT	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5115A>G	14.37:g.45542716A>G		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	76	28	NM_015091	0	0	1	8	7	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																			.		0.333	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		G	45542716	A	G	45542716	2	3	20	1	0	0	0	0	0	0	0	1	5525	11	1	4		4	FAM179B	14	45542716	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		45542716	61806824	40	3795											
FERMT2	10979	bcgsc.ca	37	chr14	53341962	53341962	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaattgttgacgttttaccCccttccagagtaatctccag	6	11	1	2	rs1130597	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:53341962C>G	ENST00000395631.2	-	8	1293	c.1077G>C	c.(1075-1077)ggG>ggC	p.G359G	FERMT2_ENST00000553373.1_Silent_p.G359G|FERMT2_ENST00000399304.3_Silent_p.G359G|FERMT2_ENST00000343279.4_Silent_p.G359G|FERMT2_ENST00000341590.3_Silent_p.G359G			Q96AC1	FERM2_HUMAN	fermitin family member 2	359	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACGTTTTACCCCCTTCCAGAG	0.368													C|||	10	0.00199681	0	0.0043	5008	,	,		16517	0		0.007	False		,,,				2504	0				p.G359G		.											.	FERMT2-68	0			c.G1077C						.	C	,,	8,4398	14.3+/-33.2	0,8,2195	125	114	118		1077,1077,1077	3.7	1	14	dbSNP_86	118	76,8524	44.9+/-103.4	0,76,4224	no	coding-synonymous,coding-synonymous,coding-synonymous	FERMT2	NM_001134999.1,NM_001135000.1,NM_006832.2	,,	0,84,6419	GG,GC,CC		0.8837,0.1816,0.6459	,,	359/688,359/634,359/681	53341962	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	10979	exon8			TTTACCCCCTTCC	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1077G>C	14.37:g.53341962C>G		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_001135000	0	0	11	11	0	B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	CCDS9713.1																																																																																			G|0.274;C|0.726		0.368	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		G	53341962	C	G	53341962	2	3	20	1	0	0	0	0	0	0	0	1	5840	610	22	3		3	FERMT2	14	53341962	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	7799246	53341962	54007578	41	3796											
C14orf149	112849	hgsc.bcm.edu	37	chr14	59950676	59950676	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagggggcgccggcacaAgcccgaagtccaaagcgaag	15	14	0	0	rs34741399	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:59950676A>C	ENST00000247194.4	-	1	472	c.359T>G	c.(358-360)cTt>cGt	p.L120R	JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000556985.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	120					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CGCCGGCACAAGCCCGAAGTC	0.706											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	118	0.0235623	0.0015	0.0519	5008	,	,		15591	0		0.0736	False		,,,				2504	0.0061				p.L120R		.											.	.	0			c.T359G						.	A	ARG/LEU	60,4172		0,60,2056	9	9	9		359	5.1	1	14	dbSNP_126	9	503,7747		10,483,3632	no	missense	C14orf149	NM_144581.1	102	10,543,5688	CC,CA,AA		6.097,1.4178,4.5105	probably-damaging	120/355	59950676	563,11919	2116	4125	6241	SO:0001583	missense	112849	exon1			GGCACAAGCCCGA	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.359T>G	14.37:g.59950676A>C	ENSP00000247194:p.Leu120Arg	Somatic	5	0	1042	WXS	Illumina GAIIx	Phase_I	28	4	NM_144581	0	0	1	1	0	Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	77	0.035256410256410256	1	0.0020325203252032522	26	0.0718232044198895	0	0.0	50	0.06596306068601583	A	15.50	2.851546	0.51270	0.014178	0.06097	ENSG00000126790	ENST00000247194	T	0.20463	2.07	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.01905	0.0060	L	0.39633	1.23	0.80722	D	1	P;P	0.46706	0.883;0.863	P;P	0.49140	0.601;0.449	T	0.00150	-1.1986	10	0.87932	D	0	.	11.7847	0.52034	0.8531:0.1469:0.0:0.0	rs34741399;rs61985498	120;120	B4DGY8;Q96EM0	.;PRCM_HUMAN	R	120	ENSP00000247194:L120R	ENSP00000247194:L120R	L	-	2	0	C14orf149	59020429	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	8.399000	0.90197	2.039000	0.60335	0.459000	0.35465	CTT	A|0.965;C|0.035		0.706	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		C	59950676	A	C	59950676	3	2	20	1	0	0	0	0	1	0	0	0	1757	72	3	5	725	5	C14orf149	14	59950676	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	6608714	59950676	47398864	42	3797											
C14orf135	64430	bcgsc.ca	37	chr14	60591887	60591887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatatattgagagtttacGgtggtgttttgccttggtct	12	5	2	1	rs167437	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:60591887G>A	ENST00000406854.1	+	9	3552	c.2998G>A	c.(2998-3000)Ggt>Agt	p.G1000S	PCNXL4_ENST00000535349.1_Missense_Mutation_p.G207S|PCNXL4_ENST00000404681.2_Missense_Mutation_p.G1000S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.G766S|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G766S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1000			G -> S (in dbSNP:rs167437). {ECO:0000269|PubMed:17974005}.			integral component of membrane (GO:0016021)											GAGAGTTTACGGTGGTGTTTT	0.363													A|||	1747	0.348842	0.6082	0.1412	5008	,	,		19049	0.3472		0.1183	False		,,,				2504	0.3845				p.G766S		.											.	.	0			c.G2296A						.	A	SER/GLY	2375,2031	558.0+/-379.9	630,1115,458	52	52	52		2296	5.2	1	14	dbSNP_79	52	1103,7497	763.8+/-407.6	75,953,3272	yes	missense	C14orf135	NM_022495.5	56	705,2068,3730	AA,AG,GG		12.8256,46.0962,26.7415	benign	766/939	60591887	3478,9528	2203	4300	6503	SO:0001583	missense	64430	exon8			GTTTACGGTGGTG	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2998G>A	14.37:g.60591887G>A	ENSP00000384801:p.Gly1000Ser	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	168	6	NM_022495	0	0	19	19	0	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		610	0.2793040293040293	277	0.5630081300813008	57	0.1574585635359116	196	0.34265734265734266	80	0.10554089709762533	A	3.746	-0.052626	0.07362	0.539038	0.128256	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.18	5.18	0.71444	.	0.472372	0.27100	N	0.020923	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	1.0000000000287557E-6	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.44892	-0.9298	9	0.07482	T	0.82	.	6.5552	0.22456	0.7897:0.0:0.0736:0.1367	rs167437;rs3737079;rs52795398;rs61537067;rs167437	1000;766	Q63HM2;B5MC47	CN135_HUMAN;.	S	766;1000;766;1000;207	ENSP00000317396:G766S;ENSP00000384801:G1000S;ENSP00000385201:G766S;ENSP00000385713:G1000S;ENSP00000445644:G207S	ENSP00000317396:G766S	G	+	1	0	C14orf135	59661640	0.999000	0.42202	0.998000	0.56505	0.729000	0.41735	4.470000	0.60175	0.914000	0.36822	-0.893000	0.02921	GGT	G|0.537;T|0.066		0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		A	60591887	G	A	60591887	3	1	20	1	0	0	0	0	1	0	0	0	1750	1116	39	1	2322	1	C14orf135	14	60591887	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	641211	60591887	46757653	43	3798											
FAM161B	145483	bcgsc.ca	37	chr14	74413129	74413129	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gactccaacagacaccatctCcctttctgcttcagttcctg	5	16	3	1	rs7146634	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:74413129C>G	ENST00000534936.1	-	2	339	c.234G>C	c.(232-234)ggG>ggC	p.G78G	FAM161B_ENST00000286544.3_Silent_p.G141G			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	78										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GACACCATCTCCCTTTCTGCT	0.478													G|||	1301	0.259784	0.3003	0.3429	5008	,	,		20403	0.0506		0.4056	False		,,,				2504	0.2117				p.G141G		.											.	FAM161B-91	0			c.G423C						.	G		1345,3061	694.1+/-405.8	198,949,1056	197	188	191		423	-0.5	0	14	dbSNP_116	191	3561,5039	628.9+/-398.2	730,2101,1469	no	coding-synonymous	FAM161B	NM_152445.2		928,3050,2525	GG,GC,CC		41.407,30.5266,37.7211		141/711	74413129	4906,8100	2203	4300	6503	SO:0001819	synonymous_variant	145483	exon2			CCATCTCCCTTTC	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.234G>C	14.37:g.74413129C>G		Somatic	112	1		WXS	Illumina GAIIx	Phase_I	111	5	NM_152445	0	0	2	2	0	B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37																																																																																				C|0.648;G|0.352		0.478	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		G	74413129	C	G	74413129	2	3	20	1	0	0	0	0	0	0	0	1	5492	842	30	3		3	FAM161B	14	74413129	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	13821242	74413129	32936411	44	3799											
ISM2	145501	hgsc.bcm.edu	37	chr14	77965094	77965094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcgccgccagcagcaGcacgcagaggaggagcccgg	16	15	0	1	rs12431905	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:77965094G>A	ENST00000342219.4	-	1	99	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	ISM2_ENST00000493585.1_Silent_p.L15L|ISM2_ENST00000393684.3_5'UTR|ISM2_ENST00000412904.1_Silent_p.L15L|ISM2_ENST00000429906.1_Silent_p.L15L	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	15						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCAGCAGCAGCACGCAGAGG	0.731													G|||	270	0.0539137	0.0061	0.1571	5008	,	,		10603	0.0129		0.0755	False		,,,				2504	0.0654				p.L15L		.											.	ISM2-91	0			c.C43T						.	G	,	51,3145		0,51,1547	3	3	3		43,43	-4.3	0	14	dbSNP_120	3	420,5934		10,400,2767	no	coding-synonymous,coding-synonymous	ISM2	NM_182509.3,NM_199296.2	,	10,451,4314	AA,AG,GG		6.61,1.5957,4.9319	,	15/293,15/572	77965094	471,9079	1598	3177	4775	SO:0001819	synonymous_variant	145501	exon1			GCAGCAGCACGCA	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.43C>T	14.37:g.77965094G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_199296	0	0	0	0	0	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																			G|0.934;A|0.066		0.731	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77965094	G	A	77965094	2	1	20	1	0	0	0	0	0	0	0	1	7888	962	34	3		3	ISM2	14	77965094	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	3551965	77965094	29384446	45	3800											
SERPINA1	5265	bcgsc.ca	37	chr14	94847415	94847415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcaccttcacggtggtcAcctggtccacgtggaagtcc	12	13	2	0	rs6647	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:94847415A>G	ENST00000448921.1	-	5	1282	c.710T>C	c.(709-711)gTg>gCg	p.V237A	SERPINA1_ENST00000393088.4_Missense_Mutation_p.V237A|SERPINA1_ENST00000437397.1_Missense_Mutation_p.V237A|SERPINA1_ENST00000355814.4_Missense_Mutation_p.V237A|SERPINA1_ENST00000402629.1_Missense_Mutation_p.V237A|SERPINA1_ENST00000440909.1_Missense_Mutation_p.V237A|SERPINA1_ENST00000404814.4_Missense_Mutation_p.V237A|SERPINA1_ENST00000449399.3_Missense_Mutation_p.V237A|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393087.4_Missense_Mutation_p.V237A	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	237			V -> A (in M1A and Z; associated with K- 366 in Z; dbSNP:rs6647). {ECO:0000269|PubMed:17650587, ECO:0000269|PubMed:23826168, ECO:0000269|Ref.12, ECO:0000269|Ref.8}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CACGGTGGTCACCTGGTCCAC	0.547													G|||	1249	0.249401	0.6074	0.1153	5008	,	,		20209	0.0218		0.1958	False		,,,				2504	0.1503				p.V237A		.											.	SERPINA1-226	0			c.T710C						.	G	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	2382,2024	564.4+/-381.4	625,1132,446	105	76	86	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	710,710,710,710,710,710,710,710,710,710,710	-9.9	0	14	dbSNP_52	86	1821,6779	731.7+/-406.8	185,1451,2664	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	64,64,64,64,64,64,64,64,64,64,64	810,2583,3110	GG,GA,AA		21.1744,45.9374,32.3159	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	237/419,237/419,237/419,237/419,237/419,237/419,237/419,237/419,237/419,237/419,237/419	94847415	4203,8803	2203	4300	6503	SO:0001583	missense	5265	exon5			GTGGTCACCTGGT	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.710T>C	14.37:g.94847415A>G	ENSP00000416066:p.Val237Ala	Somatic	167	2		WXS	Illumina GAIIx	Phase_I	143	5	NM_001127701	0	0	22	22	0	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	534	0.2445054945054945	310	0.6300813008130082	47	0.1298342541436464	14	0.024475524475524476	163	0.21503957783641162	G	7.506	0.653591	0.14580	0.540626	0.211744	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.22	-9.95	0.00446	Serpin domain (3);	3.695110	0.00797	N	0.001383	T	0.00012	0.0000	N	0.03281	-0.365	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08994	-1.0695	9	0.16420	T	0.52	.	8.3574	0.32338	0.2211:0.0:0.3322:0.4467	rs6647;rs17581;rs1049594;rs3189781;rs17856489;rs52795319;rs57059392;rs6647	237;237	P01009-2;P01009	.;A1AT_HUMAN	A	237	ENSP00000390299:V237A;ENSP00000416066:V237A;ENSP00000408474:V237A;ENSP00000348068:V237A;ENSP00000376802:V237A;ENSP00000376803:V237A;ENSP00000385960:V237A;ENSP00000416354:V237A;ENSP00000386094:V237A	ENSP00000348068:V237A	V	-	2	0	SERPINA1	93917168	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.447000	0.06828	-2.158000	0.00788	-2.846000	0.00104	GTG	A|0.718;G|0.282		0.547	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		G	94847415	A	G	94847415	3	3	20	1	0	0	0	0	1	0	0	0	14131	159	6	4	558	4	SERPINA1	14	94847415	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	16882321	94847415	12502125	46	3801											
TDRD9	122402	broad.mit.edu;bcgsc.ca	37	chr14	104394850	104394850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctgggccttgaggatgCtgcggaagctcaccatcgag	14	12	1	1	rs9324066	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr14:104394850C>T	ENST00000409874.4	+	1	52	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	C14orf2_ENST00000554880.1_5'Flank|TDRD9_ENST00000339063.5_Silent_p.L2L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	2					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)				CTTGAGGATGCTGCGGAAGCT	0.701													C|||	2308	0.460863	0.5946	0.5216	5008	,	,		5602	0.3869		0.4016	False		,,,				2504	0.3742				p.L2L		.											.	TDRD9-70	0			c.C4T						.	C		777,607		217,343,132	21	25	24		4	3.6	1	14	dbSNP_119	24	1212,1970		225,762,604	yes	coding-synonymous	TDRD9	NM_153046.2		442,1105,736	TT,TC,CC		38.0893,43.8584,43.5611		2/1383	104394850	1989,2577	692	1591	2283	SO:0001819	synonymous_variant	122402	exon1			AGGATGCTGCGGA	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.4C>T	14.37:g.104394850C>T		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	113	8	NM_153046	0	0	0	0	0	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2																																																																																			A|0.000;C|0.519;G|0.000;T|0.480		0.701	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104394850	C	T	104394850	2	4	20	1	0	0	0	0	0	0	0	1	15783	796	28	3		3	TDRD9	14	104394850	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	9547435	104394850	2954690	47	3802											
ZNF592	9640	bcgsc.ca	37	chr15	85333953	85333953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacctgccaggtatgccaAatgctgctgcccaaccagtg	10	13	0	1	rs2241645	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr15:85333953A>G	ENST00000560079.2	+	5	2526	c.2238A>G	c.(2236-2238)caA>caG	p.Q746Q	ZNF592_ENST00000299927.3_Silent_p.Q746Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	746					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGTATGCCAAATGCTGCTGC	0.572													G|||	3926	0.783946	0.798	0.7176	5008	,	,		19845	0.9435		0.7167	False		,,,				2504	0.7168				p.Q746Q		.											.	ZNF592-96	0			c.A2238G						.	G		3487,919	352.1+/-311.5	1391,705,107	131	113	119		2238	3.8	1	15	dbSNP_98	119	6302,2296	386.3+/-341.8	2297,1708,294	no	coding-synonymous	ZNF592	NM_014630.2		3688,2413,401	GG,GA,AA		26.7039,20.8579,24.7232		746/1268	85333953	9789,3215	2203	4299	6502	SO:0001819	synonymous_variant	9640	exon5			ATGCCAAATGCTG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2238A>G	15.37:g.85333953A>G		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	79	4	NM_014630	0	0	8	8	0	Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	CCDS32317.1																																																																																			A|0.223;G|0.777		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		G	85333953	A	G	85333953	2	3	20	1	0	0	0	0	0	0	0	1	18070	11	1	4		4	ZNF592	15	85333953	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		85333953	17197439	48	3803											
HDDC3	374659	hgsc.bcm.edu	37	chr15	91475756	91475756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctccagcagctgcgcCgcctcagagcccatcgcgcg	12	19	1	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr15:91475756C>G	ENST00000394272.3	-	1	43	c.15G>C	c.(13-15)gcG>gcC	p.A5A	AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA|HDDC3_ENST00000330334.3_Silent_p.A5A|UNC45A_ENST00000418476.2_5'Flank|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Silent_p.A5A			Q8N4P3	MESH1_HUMAN	HD domain containing 3	5							guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCAGCTGCGCCGCCTCAGAGC	0.736																																					p.A5A		.											.	HDDC3-91	0			c.G15C						.						3	3	3					15																	91475756		1431	2881	4312	SO:0001819	synonymous_variant	374659	exon1			CTGCGCCGCCTCA	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.15G>C	15.37:g.91475756C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_198527	0	0	0	16	16		Silent	SNP	ENST00000394272.3	37																																																																																				.		0.736	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		G	91475756	C	G	91475756	2	3	20	1	0	0	0	0	0	0	0	1	7044	639	23	2		2	HDDC3	15	91475756	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	6141803	91475756	11055636	49	3804											
RCCD1	91433	hgsc.bcm.edu	37	chr15	91499986	91499986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcggaggagcggccggggGcctggttcggcttcggtttc	20	10	0	0	rs4932380	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr15:91499986G>T	ENST00000394258.2	+	2	224	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	RCCD1_ENST00000556618.1_Missense_Mutation_p.A8S|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_Missense_Mutation_p.A8S|RCCD1_ENST00000556774.1_Intron	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	8			A -> S (in dbSNP:rs4932380).			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)			GCGGCCGGGGGCCTGGTTCGG	0.761											OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	951	0.189896	0.0469	0.2954	5008	,	,		8275	0.3819		0.0835	False		,,,				2504	0.2198				p.A8S		.											.	RCCD1-90	0			c.G22T						.	G	SER/ALA,SER/ALA	202,3844		4,194,1825	5	9	7		22,22	-4.2	0	15	dbSNP_111	7	594,7378		19,556,3411	yes	missense,missense	RCCD1	NM_001017919.1,NM_033544.2	99,99	23,750,5236	TT,TG,GG		7.4511,4.9926,6.6234	benign,benign	8/377,8/377	91499986	796,11222	2023	3986	6009	SO:0001583	missense	91433	exon2			CCGGGGGCCTGGT		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.22G>T	15.37:g.91499986G>T	ENSP00000377801:p.Ala8Ser	Somatic	3	0	1283	WXS	Illumina GAIIx	Phase_I	12	12	NM_001017919	0	0	0	1	1	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	390	0.17857142857142858	22	0.044715447154471545	89	0.24585635359116023	223	0.38986013986013984	56	0.07387862796833773	G	3.046	-0.196425	0.06259	0.049926	0.074511	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	T;T;T	0.79653	-1.29;-1.29;-1.29	3.71	-4.18	0.03846	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.620743	0.15175	N	0.276447	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	5.000000000032756E-6	B;B	0.16802	0.019;0.011	B;B	0.14578	0.011;0.005	T	0.30208	-0.9986	9	0.16420	T	0.52	.	0.4602	0.00515	0.2924:0.2652:0.2603:0.1821	rs4932380	8;8	G3V2I3;A6NED2	.;RCCD1_HUMAN	S	8	ENSP00000377801:A8S;ENSP00000450678:A8S;ENSP00000451963:A8S	ENSP00000377801:A8S	A	+	1	0	RCCD1	89300990	0.000000	0.05858	0.021000	0.16686	0.107000	0.19398	-1.567000	0.02146	-0.916000	0.03818	-0.225000	0.12378	GCC	G|0.822;T|0.178		0.761	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		T	91499986	G	T	91499986	3	4	20	1	0	0	0	0	1	0	0	0	13220	1203	42	3	24	3	RCCD1	15	91499986	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	24230	91499986	11031406	50	3805											
FAM173A	65990	hgsc.bcm.edu	37	chr16	771286	771286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagccatggagcaggaCgacccggtcgaggcgctgac	15	15	0	1	rs11540049	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:771286C>T	ENST00000569529.1	+	1	312	c.12C>T	c.(10-12)gaC>gaT	p.D4D	FAM173A_ENST00000564000.1_Silent_p.D4D|FAM173A_ENST00000219535.3_Silent_p.D4D	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	4						integral component of membrane (GO:0016021)				pancreas(1)	1						TGGAGCAGGACGACCCGGTCG	0.776													C|||	2702	0.539537	0.4576	0.5144	5008	,	,		9107	0.5337		0.4553	False		,,,				2504	0.7607				p.D4D		.											.	FAM173A-91	0			c.C12T						.						1	1	1					16																	771286		542	1076	1618	SO:0001819	synonymous_variant	65990	exon1			GCAGGACGACCCG	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.12C>T	16.37:g.771286C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001271285	0	0	1	3	2	A2IDD4	Silent	SNP	ENST00000569529.1	37	CCDS10423.1																																																																																			C|0.504;T|0.496		0.776	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241667.2	NM_023933		T	771286	C	T	771286	2	4	20	1	0	0	0	0	0	0	0	1	5512	535	19	1		1	FAM173A	16	771286	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10		771286	89583467	51	3806											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001257370	0	0	0	1	1	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	20	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	1052158	1823444	88531309	52	3807											
ITGAM	3684	broad.mit.edu	37	chr16	31342579	31342579	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctcctggccctcatcAccgccgcgctgtacaaggtg	11	16	2	0			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:31342579A>C	ENST00000287497.8	+	29	3445	c.3370A>C	c.(3370-3372)Acc>Ccc	p.T1124P	ITGAM_ENST00000544665.3_Missense_Mutation_p.T1125P			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1124					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGCCCTCATCACCGCCGCGCT	0.706																																					p.T1125P		.											.	ITGAM-226	0			c.A3373C						.						23	28	27					16																	31342579		1986	4181	6167	SO:0001583	missense	3684	exon29			CTCATCACCGCCG	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3370A>C	16.37:g.31342579A>C	ENSP00000287497:p.Thr1124Pro	Somatic	66	15		WXS	Illumina GAIIx	Phase_I	110	19	NM_001145808	0	0	9	9	0	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293070	0.40594	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	.	.	.	.	.	T	0.57784	0.2077	M	0.81942	2.565	0.38892	D	0.957146	P;P	0.50943	0.94;0.94	B;B	0.42959	0.403;0.403	T	0.68911	-0.5284	9	0.59425	D	0.04	.	13.9744	0.64262	1.0:0.0:0.0:0.0	.	1124;1124	Q4VAK1;P11215	.;ITAM_HUMAN	P	1125;1124	ENSP00000441691:T1125P;ENSP00000287497:T1124P	ENSP00000287497:T1124P	T	+	1	0	ITGAM	31250080	0.997000	0.39634	0.993000	0.49108	0.145000	0.21501	3.698000	0.54771	1.937000	0.56155	0.528000	0.53228	ACC	.		0.706	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		C	31342579	A	C	31342579	3	2	20	1	0	0	0	0	1	0	0	0	7914	159	6	5	3487	5	ITGAM	16	31342579	Missense_Mutation	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10	29519135	31342579	59012174	53	3808											
CBLN1	869	broad.mit.edu	37	chr16	49315298	49315298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgccctccagcacgatggGctccgtctcattctgcccgc	9	18	2	0	rs200550358		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:49315298G>T	ENST00000219197.6	-	1	444	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	CBLN1_ENST00000536749.1_Missense_Mutation_p.P27T	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	27					cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				AGCACGATGGGCTCCGTCTCA	0.741																																					p.P27T		.											.	CBLN1-90	0			c.C79A						.						23	24	24					16																	49315298		2199	4299	6498	SO:0001583	missense	869	exon1			CGATGGGCTCCGT	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.79C>A	16.37:g.49315298G>T	ENSP00000219197:p.Pro27Thr	Somatic	27	2		WXS	Illumina GAIIx	Phase_I	86	8	NM_004352	0	0	6	6	0	B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712808	0.89112	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.84146	-1.81;-1.81	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.72353	2.195	0.80722	D	1	D	0.58268	0.982	P	0.56127	0.792	D	0.91202	0.4992	10	0.72032	D	0.01	-12.6452	15.6102	0.76710	0.0:0.0:1.0:0.0	.	27	P23435	CBLN1_HUMAN	T	27	ENSP00000219197:P27T;ENSP00000444651:P27T	ENSP00000219197:P27T	P	-	1	0	CBLN1	47872799	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.863000	0.92288	1.994000	0.58287	0.462000	0.41574	CCC	.		0.741	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		T	49315298	G	T	49315298	3	4	20	1	0	0	0	0	1	0	0	0	2711	1203	42	3	514	3	CBLN1	16	49315298	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	17972719	49315298	41039455	54	3809											
RBL2	5934	hgsc.bcm.edu	37	chr16	53468699	53468699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcatgagcgaaagctaCacgctggaggtgcgctcgcg	15	12	0	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:53468699C>T	ENST00000262133.6	+	1	368	c.231C>T	c.(229-231)taC>taT	p.Y77Y		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	77					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGAAAGCTACACGCTGGAGG	0.701																																					p.Y77Y		.											.	RBL2-841	0			c.C231T						.						4	6	5					16																	53468699		2022	3995	6017	SO:0001819	synonymous_variant	5934	exon1			AAGCTACACGCTG	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.231C>T	16.37:g.53468699C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	18	9	NM_005611	0	0	0	0	0	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	CCDS10748.1																																																																																			.		0.701	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53468699	C	T	53468699	2	4	20	1	0	0	0	0	0	0	0	1	13155	489	17	3		3	RBL2	16	53468699	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	4153401	53468699	36886054	55	3810											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	20	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	4094105	57562804	32791949	56	3811											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	24	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	20	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JR-01A-11D-A29I-10	31036893	88599697	1755056	57	3812											
STXBP4	252983	broad.mit.edu;bcgsc.ca	37	chr17	53063612	53063612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatctactgtagtatcacCcagtctacttgaaaagtaat	5	9	3	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr17:53063612C>T	ENST00000376352.2	+	3	239	c.32C>T	c.(31-33)cCc>cTc	p.P11L	STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.P11L|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Missense_Mutation_p.P11L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	11					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GTAGTATCACCCAGTCTACTT	0.254																																					p.P11L		.											.	STXBP4-91	0			c.C32T						.						56	61	59					17																	53063612		2203	4290	6493	SO:0001583	missense	252983	exon3			TATCACCCAGTCT	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.32C>T	17.37:g.53063612C>T	ENSP00000365530:p.Pro11Leu	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	157	6	NM_178509	0	0	1	1	0	Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381902	0.24944	.	.	ENSG00000166263	ENST00000376352;ENST00000405898;ENST00000434978	T;T;T	0.04360	3.76;3.64;3.75	5.53	4.5	0.54988	.	0.409870	0.24985	N	0.034040	T	0.03095	0.0091	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.15870	0.0;0.014	T	0.51220	-0.8733	10	0.26408	T	0.33	-2.4036	8.4122	0.32651	0.0:0.8947:0.0:0.1053	.	11;11	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	L	11	ENSP00000365530:P11L;ENSP00000385944:P11L;ENSP00000391087:P11L	ENSP00000365530:P11L	P	+	2	0	STXBP4	50418611	0.732000	0.28121	0.794000	0.32065	0.584000	0.36387	2.039000	0.41193	2.882000	0.98803	0.655000	0.94253	CCC	.		0.254	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		T	53063612	C	T	53063612	3	4	20	1	0	0	0	0	1	0	0	0	15402	623	22	3	34	3	STXBP4	17	53063612	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10		53063612	28131598	58	3813											
SALL3	27164	hgsc.bcm.edu	37	chr18	76752544	76752545	+	Missense_Mutation	DNP	GC	GC	TT													tggcgcagttctcgcagggcGcgcgcgcggcaggcggctcg					rs186555722|rs191414199	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr18:76752544_76752545GC>TT	ENST00000537592.2	+	2	553_554	c.553_554GC>TT	c.(553-555)GCg>TTg	p.A185L	SALL3_ENST00000575389.2_Missense_Mutation_p.A185L|SALL3_ENST00000536229.3_Missense_Mutation_p.A52L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	185					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTCGCAGGGCGCGCGCGCGGCA	0.723																																					p.A185L		.											.	SALL3-155	0			c.C554T						.																																			SO:0001583	missense	27164	exon2			AGGGCGCGCGCGC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	Exception_encountered	18.37:g.76752544_76752545delinsTT	ENSP00000441823:p.Ala185Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_171999	0	0	0	0	0	Q9UGH1	Missense_Mutation	DNP	ENST00000537592.2	37	CCDS12013.1																																																																																			C|0.967;T|0.033		0.723	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		TT	76752545	GC	TT	76752544	3	4	20	1	0	0	0	0	1	0	0	0	13857	1087	38	2	559	2	SALL3	18	76752544	Missense_Mutation	DNP	GC	TCGA-OR-A5JR-01A-11D-A29I-10		76752544	1324704	59	3814											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619348	1619348	+	Silent	SNP	G	G	A													cgcccgcccagtgacatgggGccggtgaaacctgaggccag					rs386805766|rs1052696	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:1619348G>A	ENST00000262965.5	-	15	1637	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.G380G|TCF3_ENST00000588136.1_Silent_p.G431G|TCF3_ENST00000453954.2_Silent_p.G347G|TCF3_ENST00000344749.5_Silent_p.G431G	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACATGGGGCCGGTGAAAC	0.736			T	"PBX1, HLF, TFPT"	pre B-ALL								G|||	536	0.107029	0.0371	0.0432	5008	,	,		13774	0.254		0.0706	False		,,,				2504	0.1329				p.G431G		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.C1293T						.	G	,	155,4211		3,149,2031	13	15	14		1293,1293	-0.6	0.1	19	dbSNP_86	14	512,7976		18,476,3750	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	21,625,5781	AA,AG,GG		6.032,3.5502,5.189	,	431/652,431/655	1619348	667,12187	2183	4244	6427	SO:0001819	synonymous_variant	6929	exon15			CATGGGGCCGGTG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1293C>T	19.37:g.1619348G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_003200	0	0	0	0	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.903;A|0.097		0.736	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1619348	G	A	1619348	2	1	20	1	0	0	0	0	0	0	0	1	15741	1190	42	3		3	TCF3	19	1619348	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		1619348	57509635	60	3815	28	2									
TCF3	6929	hgsc.bcm.edu	37	chr19	1619350	1619350	+	Missense_Mutation	SNP	C	C	T													cccgcccagtgacatggggcCggtgaaacctgaggccagcg					rs386805766|rs1052692	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:1619350C>T	ENST00000262965.5	-	15	1635	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.G380S|TCF3_ENST00000588136.1_Missense_Mutation_p.G431S|TCF3_ENST00000453954.2_Missense_Mutation_p.G347S|TCF3_ENST00000344749.5_Missense_Mutation_p.G431S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATGGGGCCGGTGAAACCT	0.741			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	564	0.11262	0.056	0.0476	5008	,	,		13830	0.254		0.0716	False		,,,				2504	0.1319				p.G431S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.G1291A						.	C	SER/GLY,SER/GLY	215,4155		5,205,1975	13	15	14		1291,1291	-0.7	0	19	dbSNP_86	14	530,7974		19,492,3741	yes	missense,missense	TCF3	NM_001136139.2,NM_003200.3	56,56	24,697,5716	TT,TC,CC		6.2324,4.9199,5.7869	benign,benign	431/652,431/655	1619350	745,12129	2185	4252	6437	SO:0001583	missense	6929	exon15			TGGGGCCGGTGAA	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1291G>A	19.37:g.1619350C>T	ENSP00000262965:p.Gly431Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_003200	0	0	0	0	0	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	219	0.10027472527472528	18	0.036585365853658534	14	0.03867403314917127	142	0.24825174825174826	45	0.059366754617414245	C	11.78	1.740783	0.30865	0.049199	0.062324	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.57907	0.37;0.37;0.37	4.29	-0.72	0.11195	.	0.354219	0.29342	N	0.012425	T	0.00012	0.0000	L	0.48260	1.515	0.80722	P	0.0	B;P;B;B	0.38827	0.304;0.649;0.048;0.085	B;B;B;B	0.26416	0.056;0.069;0.014;0.011	T	0.18999	-1.0319	9	0.23891	T	0.37	-16.7082	4.654	0.12608	0.1526:0.572:0.0:0.2754	rs1052692;rs3170423	431;431;380;368	P15923-2;P15923;Q2TB39;Q6PJU3	.;TFE2_HUMAN;.;.	S	431;431;431;380	ENSP00000262965:G431S;ENSP00000344375:G431S;ENSP00000378813:G380S	ENSP00000262965:G431S	G	-	1	0	TCF3	1570350	0.000000	0.05858	0.031000	0.17742	0.007000	0.05969	-1.118000	0.03280	0.264000	0.21851	-0.258000	0.10820	GGC	C|0.901;T|0.099		0.741	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		T	1619350	C	T	1619350	3	4	20	1	0	0	0	0	1	0	0	0	15741	652	23	1	924	1	TCF3	19	1619350	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	2	1619350	57509633	61	3816	28	2									
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558367	11558367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaggaagaagaggctgaaga	23	1	0	4			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																					p.E321E		.											.	PRKCSH-90	1	Deletion - In frame(1)	central_nervous_system(1)	c.G963A						.						28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAGGAA		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.963G>A	19.37:g.11558367G>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	125	7	NM_001001329	0	0	71	71	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	20	1	0	0	0	0	0	0	0	1	12558	991	35	3		3	PRKCSH	19	11558367	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	9939017	11558367	47570616	62	3817											
CILP2	148113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19656298	19656298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggagtgtgcgagaccccGagcgtccgggcacctcggca	15	16	0	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:19656298G>A	ENST00000291495.5	+	8	3029	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	CILP2_ENST00000586018.1_Missense_Mutation_p.E988K	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	982						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGAGACCCCGAGCGTCCGGG	0.672																																					p.E982K		.											.	CILP2-91	0			c.G2944A						.						16	19	18					19																	19656298		2196	4294	6490	SO:0001583	missense	148113	exon8			GACCCCGAGCGTC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2944G>A	19.37:g.19656298G>A	ENSP00000291495:p.Glu982Lys	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	95	31	NM_153221	0	0	1	1	0	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	7.215	0.596150	0.13875	.	.	ENSG00000160161	ENST00000291495	T	0.08984	3.03	5.79	-5.23	0.02798	.	0.485974	0.22648	N	0.057377	T	0.09598	0.0236	L	0.50333	1.59	0.09310	N	1	B;B	0.28082	0.2;0.2	B;B	0.23574	0.036;0.047	T	0.35151	-0.9800	10	0.15066	T	0.55	-2.2347	26.967	0.99997	0.0:0.8487:0.1513:0.0	.	982;982	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	K	982	ENSP00000291495:E982K	ENSP00000291495:E982K	E	+	1	0	CILP2	19517298	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.271000	0.08572	-0.941000	0.03700	-0.314000	0.08810	GAG	.		0.672	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19656298	G	A	19656298	3	1	20	1	0	0	0	0	1	0	0	0	3437	1059	37	1	2974	1	CILP2	19	19656298	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	8097931	19656298	39472685	63	3818											
PLEKHF1	79156	hgsc.bcm.edu	37	chr19	30165225	30165225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacggacatctgcatgcGctgcacgcagacgcgcttct	12	15	2	1			TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:30165225G>A	ENST00000436066.3	+	2	945	c.479G>A	c.(478-480)cGc>cAc	p.R160H	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.R160H	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	160					apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ATCTGCATGCGCTGCACGCAG	0.711																																					p.R160H		.											.	PLEKHF1-226	0			c.G479A						.						14	19	18					19																	30165225		2194	4271	6465	SO:0001583	missense	79156	exon2			GCATGCGCTGCAC	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.479G>A	19.37:g.30165225G>A	ENSP00000389787:p.Arg160His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_024310	0	0	1	1	0	Q96K11|Q9BUB9	Missense_Mutation	SNP	ENST00000436066.3	37	CCDS12417.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016353	0.54468	.	.	ENSG00000166289	ENST00000436066	T	0.72167	-0.63	5.3	5.3	0.74995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	L	0.37800	1.135	0.80722	D	1	P;P	0.37663	0.604;0.555	B;B	0.29862	0.058;0.108	T	0.58929	-0.7549	10	0.24483	T	0.36	-0.6485	17.9384	0.89019	0.0:0.0:1.0:0.0	.	245;160	B4DWN9;Q96S99	.;PKHF1_HUMAN	H	160	ENSP00000389787:R160H	ENSP00000389787:R160H	R	+	2	0	PLEKHF1	34857065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.742000	0.98846	2.473000	0.83533	0.462000	0.41574	CGC	.		0.711	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		A	30165225	G	A	30165225	3	1	20	1	0	0	0	0	1	0	0	0	12105	1087	38	1	481	1	PLEKHF1	19	30165225	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	10508927	30165225	28963758	64	3819											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	20	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	3002230	33167455	25961528	65	3820											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_000400	0	0	1	14	13	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	20	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	12699804	45867259	13261724	66	3821											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	20	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	1260065	47127324	12001659	67	3822											
TPRX1	284355	ucsc.edu	37	chr19	48305650	48305650	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgagattgggcctgggatCgggcctgggatcgggactga	18	9	0	2	rs112397458		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:48305650C>T	ENST00000322175.3	-	2	773	c.618G>A	c.(616-618)ccG>ccA	p.P206P	TPRX1_ENST00000543508.1_Silent_p.P196P|TPRX1_ENST00000535759.1_Silent_p.P303P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	206	Gly-rich.			P -> L (in Ref. 1; BAC05130). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcctgggatcgggcctggga	0.677																																					p.P206P	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.G618A						.	T		31,3587		0,31,1778	12	9	10		618	-0.8	0	19	dbSNP_132	10	264,6594		0,264,3165	no	coding-synonymous	TPRX1	NM_198479.2		0,295,4943	TT,TC,CC		3.8495,0.8568,2.816		206/412	48305650	295,10181	1809	3429	5238	SO:0001819	synonymous_variant	284355	exon2			TGGGATCGGGCCT		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.618G>A	19.37:g.48305650C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	46	10	NM_198479	0	0	0	0	0	A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	CCDS33066.1																																																																																			C|0.912;T|0.088		0.677	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		T	48305650	C	T	48305650	2	4	20	1	0	0	0	0	0	0	0	1	16470	871	31	1		1	TPRX1	19	48305650	Silent	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	1178326	48305650	10823333	68	3823											
GYS1	2997	bcgsc.ca	37	chr19	49485548	49485548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgagccaatgcctccagGaagacgtcagcacccttgtt	10	14	1	1	rs5464	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:49485548G>A	ENST00000323798.3	-	7	1222	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GYS1_ENST00000263276.6_Silent_p.F278F|GYS1_ENST00000541188.1_Silent_p.F262F|GYS1_ENST00000540532.1_Missense_Mutation_p.S223F|GYS1_ENST00000544287.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGCCTCCAGGAAGACGTCAG	0.517													G|||	1275	0.254593	0.2943	0.2608	5008	,	,		17958	0.2183		0.2922	False		,,,				2504	0.1953				p.F342F		.											.	GYS1-524	0			c.C1026T						.	G	,	1243,3163	431.0+/-342.8	197,849,1157	110	101	104		834,1026	4.2	1	19	dbSNP_52	104	2535,6065	415.4+/-351.8	365,1805,2130	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	562,2654,3287	AA,AG,GG		29.4767,28.2115,29.0481	,	278/674,342/738	49485548	3778,9228	2203	4300	6503	SO:0001819	synonymous_variant	2997	exon7			CTCCAGGAAGACG		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1026C>T	19.37:g.49485548G>A		Somatic	151	1		WXS	Illumina GAIIx	Phase_I	253	10	NM_002103	0	0	94	94	0	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1	589	0.2696886446886447	156	0.3170731707317073	100	0.27624309392265195	134	0.23426573426573427	199	0.262532981530343	G	12.39	1.922336	0.33908	0.282115	0.294767	ENSG00000104812	ENST00000540532	T	0.26373	1.74	5.21	4.16	0.48862	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.39974	P	0.025175999999999976	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-31.0172	8.5832	0.33642	0.1731:0.0:0.8269:0.0	rs5464;rs2228476;rs8192706;rs13306416;rs16981011;rs16981013;rs17206756;rs5464	.	.	.	F	223	ENSP00000445197:S223F	.	S	-	2	0	GYS1	54177360	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.703000	0.37846	2.613000	0.88420	0.650000	0.86243	TCC	G|0.713;A|0.287		0.517	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49485548	G	A	49485548	2	1	20	1	0	0	0	0	0	0	0	1	6939	1165	41	3		3	GYS1	19	49485548	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	1179898	49485548	9643435	69	3824											
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		.											.	.	0			c.C968A						.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	114	15	NM_001144989	0	0	9	9	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	20	1	0	0	0	0	1	0	0	0	18224	1000	35	3	1603	3	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	8900242	58385790	743193	70	3825	29	3									
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		.											.	.	0			c.G965A						.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	109	13	NM_001144989	0	0	9	9	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	20	1	0	0	0	0	1	0	0	0	18224	913	32	3	1606	3	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-OR-A5JR-01A-11D-A29I-10	3	58385793	743190	71	3826	29	3									
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT													ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																					p.G320E		.											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)	c.G959A						.																																			SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	97	6	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		TT	58385799	CC	TT	58385798	3	4	20	1	0	0	0	0	1	0	0	0	18224	842	30	3	1611	3	ZNF814	19	58385798	Missense_Mutation	DNP	CC	TCGA-OR-A5JR-01A-11D-A29I-10	5	58385798	743185	72	3827	29	3									
ZBTB45	84878	hgsc.bcm.edu	37	chr19	59028585	59028585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccagcaggtggcgcagGcggtgacgcagctgcgcagg	19	12	0	1	rs11545185	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr19:59028585G>A	ENST00000594051.1	-	2	936	c.456C>T	c.(454-456)cgC>cgT	p.R152R	ZBTB45_ENST00000354590.3_Silent_p.R152R|ZBTB45_ENST00000600990.1_Silent_p.R152R			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	152	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGGCGCAGGCGGTGACGCA	0.751											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	783	0.15635	0.171	0.1571	5008	,	,		12592	0.0556		0.2097	False		,,,				2504	0.1851				p.R152R	NSCLC(164;1383 2017 5233 27540 46677)	.											.	ZBTB45-90	0			c.C456T						.	G		607,3451		44,519,1466	9	12	11		456	0.6	1	19	dbSNP_120	11	1218,6788		98,1022,2883	no	coding-synonymous	ZBTB45	NM_032792.2		142,1541,4349	AA,AG,GG		15.2136,14.9581,15.1277		152/512	59028585	1825,10239	2029	4003	6032	SO:0001819	synonymous_variant	84878	exon2			GCGCAGGCGGTGA	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.456C>T	19.37:g.59028585G>A		Somatic	0	0	1035	WXS	Illumina GAIIx	Phase_I	9	4	NM_032792	0	0	3	7	4		Silent	SNP	ENST00000594051.1	37	CCDS12984.1																																																																																			G|0.844;A|0.156		0.751	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		A	59028585	G	A	59028585	2	1	20	1	0	0	0	0	0	0	0	1	17594	1190	42	3		3	ZBTB45	19	59028585	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10	642787	59028585	100398	73	3828											
TCF15	6939	hgsc.bcm.edu	37	chr20	590456	590456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcactgcccgcggcAcggaagcacggctgcccgtc	13	18	0	0	rs282164	byFrequency	TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7	8	8		426	-9	0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_004609	0	0	0	0	0	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		G	590456	A	G	590456	2	3	20	1	0	0	0	0	0	0	0	1	15735	146	6	4		4	TCF15	20	590456	Silent	SNP	A	TCGA-OR-A5JR-01A-11D-A29I-10		590456	62435064	74	3829											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt	21	13	0	0	rs759609		TCGA-OR-A5JR-01A-11D-A29I-10	TCGA-OR-A5JR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	6625a9c0-ac73-4f14-a02d-7a8e64f7b2bb	8ea6498c-da66-42fc-bb2a-b4f5e02c0438	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	20	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5JR-01A-11D-A29I-10		20780097	30524469	75	3830											
LRRC8B	23507	bcgsc.ca	37	chr1	90049075	90049075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcactcttgaaatcgactGttcagttgatgtgcaggctt	9	9	3	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:90049075G>T	ENST00000330947.2	+	5	1226	c.866G>T	c.(865-867)tGt>tTt	p.C289F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.C289F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.C289F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	289					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)		GAAATCGACTGTTCAGTTGAT	0.358																																					p.C289F		.											.	LRRC8B-92	0			c.G866T						.						147	145	146					1																	90049075		2203	4300	6503	SO:0001583	missense	23507	exon5			TCGACTGTTCAGT	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.866G>T	1.37:g.90049075G>T	ENSP00000332674:p.Cys289Phe	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	32	4	NM_015350	0	0	8	8	0	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553744	0.65425	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.66638	-0.22;-0.22;-0.22	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.81656	-0.0834	10	0.87932	D	0	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	289	Q6P9F7	LRC8B_HUMAN	F	289	ENSP00000332674:C289F;ENSP00000350933:C289F;ENSP00000400704:C289F	ENSP00000332674:C289F	C	+	2	0	LRRC8B	89821663	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.743000	0.98849	2.629000	0.89072	0.655000	0.94253	TGT	.		0.358	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		T	90049075	G	T	90049075	3	4	21	1	0	0	0	0	1	0	0	0	9057	1377	48	3	868	3	LRRC8B	1	90049075	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		90049075	159201546	1	3831											
CSDE1	7812	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	115261240	115261241	+	Frame_Shift_Ins	INS	-	-	T													tatgccctcataccattgagINSttatctggtccccttggctg							TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:115261240_115261241insT	ENST00000358528.4	-	19	2768_2769	c.2342_2343insA	c.(2341-2343)aacfs	p.N781fs	CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.N651fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.N750fs|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.N796fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.N781fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.N750fs|CSDE1_ENST00000438362.2_Frame_Shift_Ins_p.N827fs|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000483407.1_5'UTR	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	781					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)		ATACCATTGAGTTATCTGGTCC	0.46																																					p.N827fs		.											.	CSDE1-227	0			c.2481_2482insA						.																																			SO:0001589	frameshift_variant	7812	exon20			CATTGAGTTATCT		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.2343dupA	1.37:g.115261242_115261242dupT	ENSP00000351329:p.Asn781fs	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	82	35	NM_001242891	0	0	0	0	0	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Ins	INS	ENST00000358528.4	37	CCDS30812.1																																																																																			.		0.46	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		T	115261241	-	T	115261240	7	5	21	1	0	1	1	0	0	0	0	0	3938	1020	36	0	61	0	CSDE1	1	115261240	Frame_Shift_Ins	INS	-	TCGA-OR-A5JT-01A-11D-A29I-10	25212165	115261240	133989381	2	3832											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_022371	0	0	0	4	4	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	21	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	63790060	179051300	70199321	3	3833											
GEN1	348654	hgsc.bcm.edu	37	chr2	17942677	17942677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggaacttattttttcGtatctcatatttaacacaaa	3	7	2	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:17942677G>T	ENST00000381254.2	+	3	390	c.176G>T	c.(175-177)cGt>cTt	p.R59L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R59L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	59	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATTTTTTCGTATCTCATAT	0.308								Homologous recombination																													p.R59L		.											.	GEN1-359	0			c.G176T						.						43	45	44					2																	17942677		2203	4300	6503	SO:0001583	missense	348654	exon3			TTTTTCGTATCTC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.176G>T	2.37:g.17942677G>T	ENSP00000370653:p.Arg59Leu	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	72	5	NM_182625	0	0	1	1	0	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382886	0.82792	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.35	4.47	0.54385	XPG N-terminal (2);	0.000000	0.64402	D	0.000005	D	0.86977	0.6063	H	0.95850	3.73	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.91072	0.4893	10	0.87932	D	0	-20.2561	14.3472	0.66675	0.0711:0.0:0.9289:0.0	.	59	Q17RS7	GEN_HUMAN	L	59	ENSP00000318977:R59L;ENSP00000370653:R59L;ENSP00000435143:R59L;ENSP00000433180:R59L	ENSP00000318977:R59L	R	+	2	0	GEN1	17806158	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.912000	0.92726	1.488000	0.48433	0.655000	0.94253	CGT	.		0.308	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		T	17942677	G	T	17942677	3	4	21	1	0	0	0	0	1	0	0	0	6361	1145	40	2	182	2	GEN1	2	17942677	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		17942677	225256696	4	3834											
PSD4	23550	bcgsc.ca	37	chr2	113956371	113956371	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcaacttggctgcggccacGcactccgcgccgcccttccc	9	20	1	0	rs2276561	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:113956371G>C	ENST00000245796.6	+	15	2874	c.2679G>C	c.(2677-2679)acG>acC	p.T893T	PSD4_ENST00000441564.3_Silent_p.T864T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	893					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCGGCCACGCACTCCGCGC	0.706													G|||	2211	0.441494	0.1838	0.5288	5008	,	,		10664	0.6498		0.4692	False		,,,				2504	0.4847				p.T893T		.											.	PSD4-229	0			c.G2679C						.	G		931,3401		105,721,1340	22	19	20		2679	-4.7	0.9	2	dbSNP_100	20	3876,4582		947,1982,1300	no	coding-synonymous	PSD4	NM_012455.2		1052,2703,2640	CC,CG,GG		45.8264,21.4912,37.5841		893/1057	113956371	4807,7983	2166	4229	6395	SO:0001819	synonymous_variant	23550	exon15			GGCCACGCACTCC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2679G>C	2.37:g.113956371G>C		Somatic	14	1		WXS	Illumina GAIIx	Phase_I	34	29	NM_012455	0	0	0	22	22	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																			G|0.570;C|0.430		0.706	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		C	113956371	G	C	113956371	2	2	21	1	0	0	0	0	0	0	0	1	12691	1074	38	2		2	PSD4	2	113956371	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	96013694	113956371	129243002	5	3835											
BAZ2B	29994	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	160245862	160245862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtataaattaccttttgGtctgctaagcacatgtcttc	7	9	2	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:160245862G>T	ENST00000392783.2	-	21	3705	c.3210C>A	c.(3208-3210)gaC>gaA	p.D1070E	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D1034E|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D1036E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D970E|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1070					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTACCTTTTGGTCTGCTAAGC	0.343																																					p.D1070E		.											.	BAZ2B-94	0			c.C3210A						.						241	218	225					2																	160245862		1848	4102	5950	SO:0001583	missense	29994	exon21			CTTTTGGTCTGCT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3210C>A	2.37:g.160245862G>T	ENSP00000376534:p.Asp1070Glu	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_013450	0	0	0	0	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.286368|3.286368	0.59867|0.59867	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.67171|.	1.71;1.71;1.71;-0.25|.	5.43|5.43	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.38663|.	U|.	0.001616|.	T|T	0.53433|0.53433	0.1796|0.1796	L|L	0.35542|0.35542	1.07|1.07	0.42889|0.42889	D|D	0.994193|0.994193	P;D|.	0.89917|.	0.884;1.0|.	P;D|.	0.83275|.	0.636;0.996|.	T|T	0.50329|0.50329	-0.8841|-0.8841	10|5	0.56958|.	D|.	0.05|.	-10.5047|-10.5047	12.9389|12.9389	0.58331|0.58331	0.1552:0.0:0.8448:0.0|0.1552:0.0:0.8448:0.0	.|.	1034;1070|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	E|T	1034;1070;1036;970|131	ENSP00000376533:D1034E;ENSP00000376534:D1070E;ENSP00000348087:D1036E;ENSP00000339670:D970E|.	ENSP00000339670:D970E|.	D|P	-|-	3|1	2|0	BAZ2B|BAZ2B	159954108|159954108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	2.210000|2.210000	0.42816|0.42816	1.304000|1.304000	0.44892|0.44892	0.591000|0.591000	0.81541|0.81541	GAC|CCA	.		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160245862	G	T	160245862	3	4	21	1	0	0	0	0	1	0	0	0	1333	1252	44	3	3364	3	BAZ2B	2	160245862	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	46289491	160245862	82953511	6	3836											
GPR155	151556	bcgsc.ca	37	chr2	175300997	175300997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcccggaattcatactcGttggtaatatgttggatgac	9	8	2	1	rs6757461	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:175300997G>A	ENST00000392552.2	-	16	2698	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Silent_p.N820N|GPR155_ENST00000392551.2_Silent_p.N820N	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	820	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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						ATTCATACTCGTTGGTAATAT	0.463													G|||	1070	0.213658	0.0825	0.1974	5008	,	,		20403	0.2143		0.3827	False		,,,				2504	0.228				p.N820N		.											.	GPR155-91	0			c.C2460T						.	G	,	544,3862	247.2+/-255.5	37,470,1696	162	160	161		2460,2460	-2.2	0.9	2	dbSNP_116	161	2944,5656	459.0+/-364.8	521,1902,1877	no	coding-synonymous,coding-synonymous	GPR155	NM_001033045.2,NM_152529.5	,	558,2372,3573	AA,AG,GG		34.2326,12.3468,26.8184	,	820/871,820/871	175300997	3488,9518	2203	4300	6503	SO:0001819	synonymous_variant	151556	exon17			ATACTCGTTGGTA	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.2460C>T	2.37:g.175300997G>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	91	5	NM_001033045	0	0	8	8	0	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																			G|0.734;A|0.266		0.463	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		A	175300997	G	A	175300997	2	1	21	1	0	0	0	0	0	0	0	1	6686	1136	40	1		1	GPR155	2	175300997	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	15055135	175300997	67898376	7	3837											
XPC	7508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	14207051	14207051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagatgttatttcgaTagaagccatttgctagcagg	12	7	0	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr3:14207051T>C	ENST00000285021.7	-	6	870	c.656A>G	c.(655-657)tAt>tGt	p.Y219C	XPC_ENST00000449060.2_Missense_Mutation_p.Y182C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	219					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTATTTCGATAGAAGCCATT	0.532			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.Y219C		.	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	.	XPC-662	0			c.A656G						.						60	59	59					3																	14207051		1993	4183	6176	SO:0001583	missense	7508	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TTTCGATAGAAGC		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.656A>G	3.37:g.14207051T>C	ENSP00000285021:p.Tyr219Cys	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	110	26	NM_004628	0	0	9	11	2	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844553	0.32606	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.64991	-0.13;-0.13	5.42	2.68	0.31781	.	0.123056	0.56097	D	0.000025	T	0.73737	0.3625	M	0.68317	2.08	0.43010	D	0.994542	D;D	0.89917	0.999;1.0	D;D	0.69307	0.921;0.963	T	0.75772	-0.3200	10	0.62326	D	0.03	-11.0443	11.7254	0.51706	0.2466:0.0:0.0:0.7534	.	182;219	E9PH69;Q01831	.;XPC_HUMAN	C	219;182	ENSP00000285021:Y219C;ENSP00000404002:Y182C	ENSP00000285021:Y219C	Y	-	2	0	XPC	14182055	1.000000	0.71417	0.728000	0.30774	0.029000	0.11900	3.273000	0.51623	0.874000	0.35823	0.383000	0.25322	TAT	.		0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		C	14207051	T	C	14207051	3	2	21	1	0	0	0	0	1	0	0	0	17490	1406	49	4	1159	4	XPC	3	14207051	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10		14207051	183815379	8	3838											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	117	47	NM_175918	0	0	10	23	13	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	21	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		1388755	189765521	9	3839											
CRMP1	1400	hgsc.bcm.edu	37	chr4	5894586	5894586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaggcgccctccaccgcGgcgaacatgccgccgtactt	11	17	0	0	rs143304363	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:5894586G>A	ENST00000324989.7	-	1	199	c.111C>T	c.(109-111)gcC>gcT	p.A37A	CRMP1_ENST00000512574.1_5'Flank	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	0					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTCCACCGCGGCGAACATGC	0.756													G|||	277	0.0553115	0.0076	0.0461	5008	,	,		4031	0.0437		0.0805	False		,,,				2504	0.1125				p.A37A		.											.	CRMP1-92	0			c.C111T						.	G		56,3324		2,52,1636	4	4	4		111	0.2	1	4	dbSNP_134	4	409,6095		9,391,2852	no	coding-synonymous	CRMP1	NM_001014809.1		11,443,4488	AA,AG,GG		6.2884,1.6568,4.7046		37/687	5894586	465,9419	1690	3252	4942	SO:0001819	synonymous_variant	1400	exon1			CACCGCGGCGAAC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000324989.7:c.111C>T	4.37:g.5894586G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	14	NM_001014809	0	0	0	0	0	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000324989.7	37	CCDS33950.1																																																																																			G|0.946;A|0.054		0.756	CRMP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246814.2	NM_001313		A	5894586	G	A	5894586	2	1	21	1	0	0	0	0	0	0	0	1	3897	1103	39	1		1	CRMP1	4	5894586	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	4505831	5894586	185259690	10	3840											
SOD3	6649	hgsc.bcm.edu	37	chr4	24801354	24801354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagccgtcggccacgCtggacgccgcgcagccccgg	16	17	0	0	rs8192291	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:24801354C>T	ENST00000382120.3	+	2	416	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	71					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GTCGGCCACGCTGGACGCCGC	0.726													C|||	994	0.198482	0.0968	0.1585	5008	,	,		11823	0.3512		0.2028	False		,,,				2504	0.2025				p.L71L		.											.	SOD3-90	0			c.C211T						.	C		341,3293		12,317,1488	4	5	5		211	0.7	0	4	dbSNP_117	5	1103,6325		63,977,2674	no	coding-synonymous	SOD3	NM_003102.2		75,1294,4162	TT,TC,CC		14.8492,9.3836,13.0537		71/241	24801354	1444,9618	1817	3714	5531	SO:0001819	synonymous_variant	6649	exon2			GCCACGCTGGACG		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.211C>T	4.37:g.24801354C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	26	19	NM_003102	0	0	7	18	11	Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	CCDS3430.1																																																																																			C|0.777;T|0.223		0.726	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			T	24801354	C	T	24801354	2	4	21	1	0	0	0	0	0	0	0	1	14967	796	28	3		3	SOD3	4	24801354	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	18906768	24801354	166352922	11	3841											
NMU	10874	hgsc.bcm.edu	37	chr4	56502304	56502304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggagcggggacGccgcggccacctgtccggcg	18	15	0	0	rs35771241	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:56502304G>T	ENST00000264218.3	-	1	161	c.56C>A	c.(55-57)gCg>gAg	p.A19E	NMU_ENST00000515325.1_Intron|NMU_ENST00000507338.1_Missense_Mutation_p.A19E|NMU_ENST00000511469.1_Missense_Mutation_p.A19E|NMU_ENST00000505262.1_Missense_Mutation_p.A19E	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	19					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		gagcGGGGACGCCGCGGCCAC	0.761													G|||	88	0.0175719	0.0038	0.0245	5008	,	,		10083	0		0.0577	False		,,,				2504	0.0082				p.A19E		.											.	NMU-650	0			c.C56A	GRCh37	CM066152	NMU	M	rs35771241	.	G	GLU/ALA	34,3224		0,34,1595	5	7	6		56	1.1	0	4	dbSNP_126	6	262,5824		1,260,2782	no	missense	NMU	NM_006681.2	107	1,294,4377	TT,TG,GG		4.305,1.0436,3.1678	benign	19/175	56502304	296,9048	1629	3043	4672	SO:0001583	missense	10874	exon1			GGGGACGCCGCGG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.56C>A	4.37:g.56502304G>T	ENSP00000264218:p.Ala19Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	13	NM_006681	0	0	0	1	1		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	6	0.012195121951219513	16	0.04419889502762431	0	0.0	42	0.055408970976253295	G	14.57	2.576146	0.45902	0.010436	0.04305	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.38887	1.11;1.25;1.19;1.18	2.89	1.06	0.20224	.	0.337479	0.19087	U	0.123078	T	0.03959	0.0111	L	0.44542	1.39	0.09310	N	1	D	0.54397	0.966	P	0.45195	0.473	T	0.03784	-1.1004	10	0.52906	T	0.07	-8.0688	3.8411	0.08914	0.1476:0.2562:0.5962:0.0	rs35771241	19	P48645	NMU_HUMAN	E	19	ENSP00000422399:A19E;ENSP00000264218:A19E;ENSP00000424246:A19E;ENSP00000422870:A19E	ENSP00000264218:A19E	A	-	2	0	NMU	56197061	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.032000	0.12266	0.255000	0.21593	0.195000	0.17529	GCG	G|0.970;T|0.030		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56502304	G	T	56502304	3	4	21	1	0	0	0	0	1	0	0	0	10544	1087	38	2	504	2	NMU	4	56502304	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	31700950	56502304	134651972	12	3842											
MTHFD2L	441024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	75065574	75065574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatgtagatggatttcAtattatcaatattggaagat	8	2	2	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:75065574A>G	ENST00000395759.2	+	4	542	c.515A>G	c.(514-516)cAt>cGt	p.H172R	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H37R|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H114R|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H114R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	172					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GATGGATTTCATATTATCAAT	0.338																																					p.H172R		.											.	MTHFD2L-91	0			c.A515G						.						95	100	98					4																	75065574		2203	4300	6503	SO:0001583	missense	441024	exon4			GATTTCATATTAT	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.515A>G	4.37:g.75065574A>G	ENSP00000379108:p.His172Arg	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	93	34	NM_001144978	0	0	2	8	6	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053932	0.75960	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.2	5.2	0.72013	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	H	0.96547	3.84	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.965	D	0.87707	0.2564	10	0.87932	D	0	.	13.0667	0.59038	1.0:0.0:0.0:0.0	.	172;114	Q9H903;Q9H903-3	MTD2L_HUMAN;.	R	37;172;114;114;114	ENSP00000405692:H37R;ENSP00000379108:H172R;ENSP00000330982:H114R;ENSP00000352012:H114R;ENSP00000321984:H114R	ENSP00000321984:H114R	H	+	2	0	MTHFD2L	75284438	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.773000	0.75006	2.180000	0.69256	0.533000	0.62120	CAT	.		0.338	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		G	75065574	A	G	75065574	3	3	21	1	0	0	0	0	1	0	0	0	9968	217	8	4	529	4	MTHFD2L	4	75065574	Missense_Mutation	SNP	A	TCGA-OR-A5JT-01A-11D-A29I-10	18563270	75065574	116088702	13	3843											
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	85594085	85594085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttataataacagttctgaCaaacacgcaccggggatgag	10	8	1	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:85594085C>T	ENST00000295888.4	-	68	10924	c.10517G>A	c.(10516-10518)tGt>tAt	p.C3506Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.C3489Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3506	Interaction with ATG5.|Interaction with SQSTM1.				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)		ACAGTTCTGACAAACACGCAC	0.413																																					p.C3506Y		.											.	WDFY3-93	0			c.G10517A						.						109	107	108					4																	85594085		2203	4300	6503	SO:0001583	missense	23001	exon68			TTCTGACAAACAC	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.10517G>A	4.37:g.85594085C>T	ENSP00000295888:p.Cys3506Tyr	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	99	50	NM_014991	0	0	14	23	9	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292145	0.80914	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	D;D	0.96885	-4.16;-4.16	5.75	5.75	0.90469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.99659	4.685	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.98523	1.0624	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	3506	Q8IZQ1	WDFY3_HUMAN	Y	3489;3506	ENSP00000318466:C3489Y;ENSP00000295888:C3506Y	ENSP00000295888:C3506Y	C	-	2	0	WDFY3	85813109	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.142000	0.77339	2.708000	0.92522	0.650000	0.86243	TGT	.		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85594085	C	T	85594085	3	4	21	1	0	0	0	0	1	0	0	0	17319	478	17	3	67	3	WDFY3	4	85594085	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	10528511	85594085	105560191	14	3844											
TRAM1L1	133022	broad.mit.edu;bcgsc.ca	37	chr4	118005441	118005441	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgcgcttgcaaagatTatgaagatttctctttcctc	6	9	2	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:118005441T>A	ENST00000310754.4	-	1	1295	c.1109A>T	c.(1108-1110)tAa>tTa	p.*370L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	0					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTGCAAAGATTATGAAGATTT	0.383																																					p.X370L		.											.	TRAM1L1-90	0			c.A1109T						.						119	123	122					4																	118005441		2202	4300	6502	SO:0001578	stop_lost	133022	exon1			AAAGATTATGAAG	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1109A>T	4.37:g.118005441T>A		Somatic	52	1		WXS	Illumina GAIIx	Phase_I	49	18	NM_152402	0	0	0	2	2	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	6.457	0.452404	0.12283	.	.	ENSG00000174599	ENST00000310754	.	.	.	3.74	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0307	0.24965	0.0:0.2047:0.0:0.7953	.	.	.	.	L	370	.	.	X	-	2	2	TRAM1L1	118224889	0.968000	0.33430	0.000000	0.03702	0.205000	0.24178	0.477000	0.22196	0.268000	0.21939	-0.263000	0.10527	TAA	.		0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		A	118005441	T	A	118005441	4	1	21	1	0	0	0	0	0	0	0	0	16500	1761	61	5	4	5	TRAM1L1	4	118005441	Nonstop_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	32411356	118005441	73148835	15	3845											
CLPTM1L	81037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	1334422	1334422	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatggaacgctgcgacaaaGaaggtcagcgccaggaagta	13	9	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:1334422G>C	ENST00000320895.5	-	7	1130	c.873C>G	c.(871-873)ttC>ttG	p.F291L	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.F158L|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.F291L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	291					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CTGCGACAAAGAAGGTCAGCG	0.542																																					p.F291L		.											.	CLPTM1L-153	0			c.C873G						.						89	95	93					5																	1334422		2203	4300	6503	SO:0001583	missense	81037	exon7			GACAAAGAAGGTC	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.873C>G	5.37:g.1334422G>C	ENSP00000313854:p.Phe291Leu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	62	14	NM_030782	0	0	32	32	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	g	8.155	0.788167	0.16258	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.42131	1.02;1.01;0.98	4.38	2.57	0.30868	.	0.093822	0.85682	D	0.000000	T	0.31638	0.0803	L	0.37507	1.11	0.53005	D	0.999965	P;P	0.40211	0.707;0.698	B;B	0.43123	0.409;0.158	T	0.03608	-1.1020	10	0.17369	T	0.5	-27.699	7.6285	0.28226	0.2598:0.0:0.7402:0.0	.	291;158	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	L	291;158;291	ENSP00000313854:F291L;ENSP00000423321:F158L;ENSP00000315196:F291L	ENSP00000313854:F291L	F	-	3	2	CLPTM1L	1387422	1.000000	0.71417	0.994000	0.49952	0.169000	0.22640	1.514000	0.35834	0.287000	0.22375	0.556000	0.70494	TTC	.		0.542	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		C	1334422	G	C	1334422	3	2	21	1	0	0	0	0	1	0	0	0	3562	933	33	3	787	3	CLPTM1L	5	1334422	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		1334422	179580838	16	3846											
SLC45A2	51151	ucsc.edu;mdanderson.org	37	chr5	33954511	33954511	+	Silent	SNP	C	C	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttggacaggaaggcTgtccatccaatgaggtggct	14	8	0	1	rs387906317|rs2287949	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:33954511C>A	ENST00000296589.4	-	4	1133	c.987G>T	c.(985-987)acG>acT	p.T329T	SLC45A2_ENST00000342059.3_Silent_p.T270T|SLC45A2_ENST00000345083.5_Silent_p.T221T|SLC45A2_ENST00000382102.3_Silent_p.T329T|SLC45A2_ENST00000509381.1_Missense_Mutation_p.G221C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	329					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAGGAAGGCTGTCCATCCAA	0.483																																					p.T329T	Ovarian(31;380 859 8490 22203 49048)	.											.	SLC45A2-93	0			c.A987T						.						190	138	156					5																	33954511		2203	4300	6503	SO:0001819	synonymous_variant	51151	exon4			GAAGGCTGTCCAT	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.987G>T	5.37:g.33954511C>A		Somatic	223	1		WXS	Illumina GAIIx	Phase_I	390	83	NM_016180	0	0	0	0	0	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	CCDS3901.1																																																																																			C|0.922;T|0.078		0.483	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		A	33954511	C	A	33954511	2	1	21	1	0	0	0	0	0	0	0	1	14686	1567	55	5		5	SLC45A2	5	33954511	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	32620089	33954511	146960749	17	3847											
PSD2	84249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	139197105	139197105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccggggagtacctcagTttcttcgacttctcgggctt	13	11	3	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:139197105T>C	ENST00000274710.3	+	5	1261	c.1056T>C	c.(1054-1056)agT>agC	p.S352S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	352	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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCTCAGTTTCTTCGACT	0.567																																					p.S352S		.											.	PSD2-91	0			c.T1056C						.						97	89	92					5																	139197105		2203	4300	6503	SO:0001819	synonymous_variant	84249	exon5			CCTCAGTTTCTTC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1056T>C	5.37:g.139197105T>C		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	140	33	NM_032289	0	0	0	0	0	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																			.		0.567	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		C	139197105	T	C	139197105	2	2	21	1	0	0	0	0	0	0	0	1	12689	1722	60	4		4	PSD2	5	139197105	Silent	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	105242594	139197105	41718155	18	3848											
PCDHB4	56131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	140503194	140503194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagaccgcggttctccGgctttgagcagcgaggcgct	14	14	2	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:140503194G>A	ENST00000194152.1	+	1	1614	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTTCTCCGGCTTTGAGCA	0.667																																					p.P538P		.											.	PCDHB4-93	0			c.G1614A						.						46	53	51					5																	140503194		2202	4297	6499	SO:0001819	synonymous_variant	56131	exon1			TTCTCCGGCTTTG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1614G>A	5.37:g.140503194G>A		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	664	59	NM_018938	0	0	0	0	0	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.		0.667	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503194	G	A	140503194	2	1	21	1	0	0	0	0	0	0	0	1	11583	1103	39	1		1	PCDHB4	5	140503194	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	1306089	140503194	40412066	19	3849											
SLC6A7	6534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149589012	149589012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccatggactggggaccatCgctggaggagaaccggacgg	18	10	0	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:149589012C>T	ENST00000230671.2	+	14	2116	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	SLC6A7_ENST00000524041.1_Missense_Mutation_p.S582L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	582					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGGGGACCATCGCTGGAGGAG	0.632																																					p.S582L		.											.	SLC6A7-90	0			c.C1745T						.						53	56	55					5																	149589012		2203	4300	6503	SO:0001583	missense	6534	exon14			GACCATCGCTGGA	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1745C>T	5.37:g.149589012C>T	ENSP00000230671:p.Ser582Leu	Somatic	293	1		WXS	Illumina GAIIx	Phase_I	462	209	NM_014228	0	0	0	0	0	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852875	0.32699	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.73363	-0.74;-0.74	5.15	5.15	0.70609	.	0.348813	0.27284	N	0.020074	T	0.58466	0.2124	N	0.24115	0.695	0.40901	D	0.984152	P	0.35456	0.502	B	0.22152	0.038	T	0.59445	-0.7453	10	0.18710	T	0.47	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	582	Q99884	SC6A7_HUMAN	L	582	ENSP00000230671:S582L;ENSP00000428200:S582L	ENSP00000230671:S582L	S	+	2	0	SLC6A7	149569205	0.974000	0.33945	0.558000	0.28319	0.700000	0.40528	4.408000	0.59761	2.409000	0.81822	0.561000	0.74099	TCG	.		0.632	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		T	149589012	C	T	149589012	3	4	21	1	0	0	0	0	1	0	0	0	14734	893	31	1	1799	1	SLC6A7	5	149589012	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	9085818	149589012	31326248	20	3850											
STC2	8614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	172745041	172745041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgatgtcctgcttcccCgtggtgggccctggagagct	16	11	0	2	rs375944211		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:172745041C>T	ENST00000265087.4	-	4	2027	c.718G>A	c.(718-720)Ggg>Agg	p.G240R	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	240					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCTTCCCCGTGGTGGGCC	0.667																																					p.G240R		.											.	STC2-93	0			c.G718A						.						63	63	63					5																	172745041		2203	4300	6503	SO:0001583	missense	8614	exon4			CTTCCCCGTGGTG	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.718G>A	5.37:g.172745041C>T	ENSP00000265087:p.Gly240Arg	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	102	20	NM_003714	0	0	1	2	1		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134861	0.06711	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	2.6	0.31112	.	0.399227	0.30820	N	0.008814	T	0.14874	0.0359	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	9	0.12766	T	0.61	-13.6042	3.1633	0.06527	0.1404:0.5636:0.1444:0.1515	.	240	O76061	STC2_HUMAN	R	240	.	ENSP00000265087:G240R	G	-	1	0	STC2	172677647	0.052000	0.20516	0.000000	0.03702	0.064000	0.16182	1.888000	0.39708	0.232000	0.21100	-0.158000	0.13435	GGG	.		0.667	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		T	172745041	C	T	172745041	3	4	21	1	0	0	0	0	1	0	0	0	15323	652	23	1	194	1	STC2	5	172745041	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	23156029	172745041	8170219	21	3851											
TBC1D9B	23061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179290951	179290951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgggtgctggtggctcgtCctcctcagtggcacagtccc	13	14	1	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:179290951C>T	ENST00000356834.3	-	22	3287	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D243N|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1067N|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D225N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1084						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCTCGTCCTCCTCAGTG	0.657																																					p.D1084N		.											.	TBC1D9B-154	0			c.G3250A						.						79	65	70					5																	179290951		2203	4300	6503	SO:0001583	missense	23061	exon22			GCTCGTCCTCCTC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3250G>A	5.37:g.179290951C>T	ENSP00000349291:p.Asp1084Asn	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	101	26	NM_198868	0	0	164	224	60	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049304	0.19827	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	3.51	0.40186	.	0.382525	0.22191	N	0.063374	T	0.40196	0.1107	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.37276	0.01;0.01;0.0;0.21;0.589	B;B;B;B;B	0.39027	0.024;0.053;0.001;0.135;0.288	T	0.21621	-1.0240	10	0.20046	T	0.44	-8.8218	13.7257	0.62756	0.0:0.7061:0.2939:0.0	.	1066;1067;1084;283;158	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	N	1084;1067;243;225;158	ENSP00000349291:D1084N;ENSP00000347375:D1067N;ENSP00000430293:D243N;ENSP00000401585:D225N	ENSP00000347375:D1067N	D	-	1	0	TBC1D9B	179223557	0.279000	0.24239	0.024000	0.17045	0.289000	0.27227	2.245000	0.43133	1.244000	0.43870	0.462000	0.41574	GAC	.		0.657	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		T	179290951	C	T	179290951	3	4	21	1	0	0	0	0	1	0	0	0	15675	855	30	3	506	3	TBC1D9B	5	179290951	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	6545910	179290951	1624309	22	3852											
GCM1	8521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	52999074	52999074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagctgtagatgtgttTggcataggaatctggccact	12	9	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:52999074T>G	ENST00000259803.7	-	3	335	c.124A>C	c.(124-126)Aaa>Caa	p.K42Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	42					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)					TAGATGTGTTTGGCATAGGAA	0.488																																					p.K42Q		.											.	GCM1-90	0			c.A124C						.						117	109	112					6																	52999074		2203	4300	6503	SO:0001583	missense	8521	exon3			TGTGTTTGGCATA	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.124A>C	6.37:g.52999074T>G	ENSP00000259803:p.Lys42Gln	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	151	131	NM_003643	0	0	0	0	0	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039870	0.55003	.	.	ENSG00000137270	ENST00000259803	T	0.74842	-0.88	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000005	T	0.75824	0.3902	L	0.40543	1.245	0.51482	D	0.999929	D	0.76494	0.999	D	0.72075	0.976	T	0.79694	-0.1696	10	0.66056	D	0.02	-0.167	14.5861	0.68326	0.0:0.0:0.0:1.0	.	42	Q9NP62	GCM1_HUMAN	Q	42	ENSP00000259803:K42Q	ENSP00000259803:K42Q	K	-	1	0	GCM1	53107033	1.000000	0.71417	0.906000	0.35671	0.181000	0.23173	4.383000	0.59600	2.016000	0.59253	0.533000	0.62120	AAA	.		0.488	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			G	52999074	T	G	52999074	3	3	21	1	0	0	0	0	1	0	0	0	6322	1821	63	5	1202	5	GCM1	6	52999074	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10		52999074	118115993	23	3853											
OGFRL1	79627	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	72006483	72006483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactggaaatgttgctcggGctgttaactggcaggaaaga	13	6	0	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:72006483G>T	ENST00000370435.4	+	6	789	c.655G>T	c.(655-657)Gct>Tct	p.A219S	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	219						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGTTGCTCGGGCTGTTAACTG	0.383																																					p.A219S		.											.	OGFRL1-68	0			c.G655T						.						59	66	64					6																	72006483		2201	4296	6497	SO:0001583	missense	79627	exon6			GCTCGGGCTGTTA		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.655G>T	6.37:g.72006483G>T	ENSP00000359464:p.Ala219Ser	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_024576	0	0	8	8	0	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696577	0.88830	.	.	ENSG00000119900	ENST00000370435	T	0.51325	0.71	5.63	5.63	0.86233	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	L	0.35414	1.06	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.37361	-0.9709	10	0.31617	T	0.26	-15.7834	20.0429	0.97598	0.0:0.0:1.0:0.0	.	219	Q5TC84	OGRL1_HUMAN	S	219	ENSP00000359464:A219S	ENSP00000359464:A219S	A	+	1	0	OGFRL1	72063204	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.009000	0.88606	2.812000	0.96745	0.555000	0.69702	GCT	.		0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		T	72006483	G	T	72006483	3	4	21	1	0	0	0	0	1	0	0	0	10883	1203	42	3	677	3	OGFRL1	6	72006483	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	19007409	72006483	99108584	24	3854											
ALDH8A1	64577	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	135239705	135239705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccaagccagactgcaGcttcttagccacccggtgga	10	15	1	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:135239705G>T	ENST00000265605.2	-	7	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L384M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L388M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCAGACTGCAGCTTCTTAGCC	0.562																																					p.L438M		.											.	ALDH8A1-94	0			c.C1312A						.						96	74	81					6																	135239705		2203	4300	6503	SO:0001583	missense	64577	exon7			ACTGCAGCTTCTT	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1312C>A	6.37:g.135239705G>T	ENSP00000265605:p.Leu438Met	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	141	58	NM_022568	0	0	0	0	0	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487351	0.63962	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.80033	-1.33;1.28;-1.33;-1.33	6.07	0.335	0.15953	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.134734	0.52532	D	0.000069	T	0.81851	0.4910	M	0.65975	2.015	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.972;0.983	T	0.81362	-0.0967	10	0.48119	T	0.1	.	11.8742	0.52537	0.3367:0.0:0.6633:0.0	.	388;384;438	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	438;384;388;123	ENSP00000265605:L438M;ENSP00000356819:L384M;ENSP00000356821:L388M;ENSP00000437161:L123M	ENSP00000265605:L438M	L	-	1	2	ALDH8A1	135281398	0.989000	0.36119	0.991000	0.47740	0.848000	0.48234	1.404000	0.34623	0.060000	0.16281	0.655000	0.94253	CTG	.		0.562	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			T	135239705	G	T	135239705	3	4	21	1	0	0	0	0	1	0	0	0	505	962	34	3	155	3	ALDH8A1	6	135239705	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	63233222	135239705	35875362	25	3855											
VIP	7432	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	153077288	153077288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaacatctcagaagacCctgtaccagtcaaacgtcac	7	13	3	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:153077288C>T	ENST00000367244.3	+	5	527	c.355C>T	c.(355-357)Cct>Tct	p.P119S	VIP_ENST00000367243.3_Missense_Mutation_p.P118S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	119					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTCAGAAGACCCTGTACCAGT	0.388																																					p.P119S		.											.	VIP-90	0			c.C355T						.						90	96	94					6																	153077288		2203	4300	6503	SO:0001583	missense	7432	exon5			GAAGACCCTGTAC		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.355C>T	6.37:g.153077288C>T	ENSP00000356213:p.Pro119Ser	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	49	14	NM_003381	0	0	0	0	0	Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.390|3.390	-0.124422|-0.124422	0.06795|0.06795	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000431366|ENST00000367244;ENST00000367243	.|T;T	.|0.19806	.|2.12;2.12	5.86|5.86	2.85|2.85	0.33270|0.33270	.|.	0.847591|0.847591	0.11041|0.11041	N|N	0.606064|0.606064	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.22003	.|0.037;0.063;0.004	.|B;B;B	.|0.18263	.|0.009;0.021;0.012	T|T	0.41680|0.41680	-0.9495|-0.9495	6|10	.|0.08179	.|T	.|0.78	.|.	17.2537|17.2537	0.87049|0.87049	0.1691:0.8309:0.0:0.0|0.1691:0.8309:0.0:0.0	.|.	.|118;118;119	.|A8K7E4;P01282-2;P01282	.|.;.;VIP_HUMAN	L|S	68|119;118	.|ENSP00000356213:P119S;ENSP00000356212:P118S	.|ENSP00000356212:P118S	P|P	+|+	2|1	0|0	VIP|VIP	153118981|153118981	0.454000|0.454000	0.25728|0.25728	0.195000|0.195000	0.23364|0.23364	0.404000|0.404000	0.30871|0.30871	2.192000|2.192000	0.42649|0.42649	0.875000|0.875000	0.35847|0.35847	0.650000|0.650000	0.86243|0.86243	CCC|CCT	.		0.388	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			T	153077288	C	T	153077288	3	4	21	1	0	0	0	0	1	0	0	0	17216	623	22	3	369	3	VIP	6	153077288	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	17837583	153077288	18037779	26	3856											
TCP10	6953	ucsc.edu	37	chr6	167791549	167791549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatcagctgacagaTgtgaaatttttccaaaagca	7	8	3	3	rs3010594	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:167791549T>G	ENST00000397829.4	-	4	478	c.311A>C	c.(310-312)cAt>cCt	p.H104P	TCP10_ENST00000366827.2_Missense_Mutation_p.H104P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	131						cytosol (GO:0005829)		p.H104P(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCTGACAGATGTGAAATTTT	0.398																																					p.H104P		.											.	TCP10-89	5	Substitution - Missense(5)	kidney(5)	c.A311C						.	G	PRO/HIS	1662,1904		591,480,712	31	64	54		311	-0.4	0	6	dbSNP_101	54	1908,6232		700,508,2862	no	missense	TCP10	NM_004610.3	77	1291,988,3574	GG,GT,TT		23.4398,46.6068,30.4972	benign	104/327	167791549	3570,8136	1783	4070	5853	SO:0001583	missense	6953	exon4			GACAGATGTGAAA	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.311A>C	6.37:g.167791549T>G	ENSP00000380929:p.His104Pro	Somatic	311	22		WXS	Illumina GAIIx	Phase_I	72	41	NM_004610	0	0	0	4	4	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	919	0.4207875457875458	260	0.5284552845528455	120	0.3314917127071823	230	0.4020979020979021	309	0.4076517150395778	G	0.003	-2.401191	0.00195	0.466068	0.234398	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.30182	1.98;2.0;1.54	1.4	-0.422	0.12329	.	.	.	.	.	T	0.01287	0.0042	N	0.00268	-1.735	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38134	-0.9675	8	0.12430	T	0.62	.	1.8097	0.03088	0.38:0.0:0.3419:0.2781	rs3010594;rs3737100;rs17855836	104;131;131	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	P	104;104;100	ENSP00000355792:H104P;ENSP00000380929:H104P;ENSP00000426065:H100P	ENSP00000355792:H104P	H	-	2	0	TCP10	167711539	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.440000	0.06888	-0.626000	0.05596	-0.648000	0.03929	CAT	G|1.000;|0.000		0.398	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		G	167791549	T	G	167791549	3	3	21	1	0	0	0	0	1	0	0	0	15757	1464	51	5	689	5	TCP10	6	167791549	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	14714261	167791549	3323518	27	3857											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000578994.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_002047	0	0	0	36	36	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	21	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		30634661	128504002	28	3858											
TECPR1	25851	broad.mit.edu;bcgsc.ca	37	chr7	97866139	97866139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggtcacactctcgggccGcgatgatggctttccaggtc	12	14	2	1	rs199829801		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:97866139G>T	ENST00000447648.2	-	10	1429	c.1130C>A	c.(1129-1131)gCg>gAg	p.A377E	TECPR1_ENST00000542604.1_Missense_Mutation_p.A307E|TECPR1_ENST00000379795.3_Missense_Mutation_p.A377E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	377					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						CTCTCGGGCCGCGATGATGGC	0.647																																					p.A377E		.											.	TECPR1-91	0			c.C1130A						.						24	30	28					7																	97866139		2061	4193	6254	SO:0001583	missense	25851	exon10			CGGGCCGCGATGA		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.1130C>A	7.37:g.97866139G>T	ENSP00000404923:p.Ala377Glu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	81	5	NM_015395	0	0	7	7	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200294	0.22121	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.32753	1.44;1.44;1.45	4.6	0.612	0.17591	.	0.514973	0.20646	N	0.088317	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	D;P	0.57899	0.981;0.846	P;B	0.56343	0.796;0.346	T	0.08659	-1.0711	10	0.54805	T	0.06	-17.0782	5.7262	0.18015	0.3977:0.1278:0.4745:0.0	.	307;377	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	377;377;307	ENSP00000404923:A377E;ENSP00000369121:A377E;ENSP00000441121:A307E	ENSP00000369121:A377E	A	-	2	0	TECPR1	97704075	0.047000	0.20315	0.002000	0.10522	0.007000	0.05969	0.782000	0.26788	0.067000	0.16545	-1.523000	0.00931	GCG	G|0.999;A|0.000		0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		T	97866139	G	T	97866139	3	4	21	1	0	0	0	0	1	0	0	0	15790	1087	38	2	2435	2	TECPR1	7	97866139	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	67231478	97866139	61272524	29	3859											
KIAA1549	57670	broad.mit.edu	37	chr7	138555976	138555976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgggaggtgccgggatcGgctgcatggcgataagctgg	20	8	0	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:138555976G>T	ENST00000422774.1	-	13	4526	c.4478C>A	c.(4477-4479)cCg>cAg	p.P1493Q	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1443Q|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1493Q			Q9HCM3	K1549_HUMAN	KIAA1549	1493						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCCGGGATCGGCTGCATGGC	0.577			O	BRAF	pilocytic astrocytoma																																p.P1493Q	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.C4478A						.						31	40	37					7																	138555976		1973	4132	6105	SO:0001583	missense	57670	exon13			GGGATCGGCTGCA		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4478C>A	7.37:g.138555976G>T	ENSP00000416040:p.Pro1493Gln	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	20	3	NM_020910	0	0	2	2	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152087	0.78001	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	D;D;D	0.82803	-1.63;-1.6;-1.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.79926	2.475	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	0.92363	0.5899	10	0.87932	D	0	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	1493;277;1493;277	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Q	1493;1443;1493	ENSP00000406661:P1493Q;ENSP00000242365:P1443Q;ENSP00000416040:P1493Q	ENSP00000242365:P1443Q	P	-	2	0	KIAA1549	138206516	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	9.263000	0.95617	2.676000	0.91093	0.655000	0.94253	CCG	.		0.577	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			T	138555976	G	T	138555976	3	4	21	1	0	0	0	0	1	0	0	0	8271	1116	39	2	1406	2	KIAA1549	7	138555976	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	40689837	138555976	20582687	30	3860											
C7orf34	3792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142636757	142636757	+	IGR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagctctgcagggcagtgttCctggttcctatcttgctgct	11	12	2	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:142636757C>G	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.F38L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGCAGTGTTCCTGGTTCCTA	0.647																																					p.F38L		.											.	C7orf34-90	0			c.C114G						.						54	54	54					7																	142636757		2203	4300	6503	SO:0001628	intergenic_variant	135927	exon1			AGTGTTCCTGGTT	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636757C>G		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	66	34	NM_178829	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.465	1.094130	0.20471	.	.	ENSG00000165131	ENST00000409607	.	.	.	4.13	2.25	0.28309	.	0.579405	0.15713	N	0.248303	T	0.33556	0.0867	L	0.35854	1.095	0.30109	N	0.806746	B	0.14438	0.01	B	0.11329	0.006	T	0.24225	-1.0166	9	0.44086	T	0.13	.	5.7219	0.17992	0.0:0.6919:0.1984:0.1096	.	13	Q96L11	CG034_HUMAN	L	38	.	ENSP00000386450:F38L	F	+	3	2	C7orf34	142346879	0.934000	0.31675	0.718000	0.30602	0.041000	0.13682	0.372000	0.20467	0.476000	0.27440	0.550000	0.68814	TTC	.		0.647	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		G	142636757	C	G	142636757	1	3	21	0	1	0	0	0	0	0	0	0	2396	854	30	3		3	C7orf34	7	142636757	IGR	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	4080781	142636757	16501906	31	3861											
GSTK1	373156	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	142962356	142962356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctcttcttcccagaaTgaagacatcaccgagccgca	7	14	4	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:142962356T>C	ENST00000358406.5	+	5	458	c.387T>C	c.(385-387)aaT>aaC	p.N129N	GSTK1_ENST00000479303.1_Silent_p.N185N|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Silent_p.N86N|GSTK1_ENST00000409500.3_Intron	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	129					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)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CTTCCCAGAATGAAGACATCA	0.597																																					p.N185N		.											.	GSTK1-90	0			c.T555C						.						32	26	28					7																	142962356		2203	4300	6503	SO:0001819	synonymous_variant	373156	exon4			CCAGAATGAAGAC		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.387T>C	7.37:g.142962356T>C		Somatic	37	1		WXS	Illumina GAIIx	Phase_I	54	18	NM_001143679	0	0	12	15	3	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Silent	SNP	ENST00000358406.5	37	CCDS5877.1																																																																																			.		0.597	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		C	142962356	T	C	142962356	2	2	21	1	0	0	0	0	0	0	0	1	6863	1461	51	4		4	GSTK1	7	142962356	Silent	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	325599	142962356	16176307	32	3862											
DLGAP2	9228	broad.mit.edu	37	chr8	1649469	1649469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccaggaagcccggaggcGcctcatggccgccaagcgag	15	15	1	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:1649469G>T	ENST00000421627.2	+	12	2959	c.2825G>T	c.(2824-2826)cGc>cTc	p.R942L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1021					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)		GCCCGGAGGCGCCTCATGGCC	0.637																																					p.R942L		.											.	DLGAP2-22	0			c.G2825T						.						12	16	15					8																	1649469		2115	4253	6368	SO:0001583	missense	9228	exon12			GGAGGCGCCTCAT	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.2825G>T	8.37:g.1649469G>T	ENSP00000400258:p.Arg942Leu	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	144	6	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.561786|5.561786	0.96527|0.96527	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.88979|0.88979	2.995|2.995	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.63028|0.63028	-0.6728|-0.6728	5|10	.|0.62326	.|D	.|0.03	-15.5091|-15.5091	19.3914|19.3914	0.94584|0.94584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1007;1021	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|L	945|973;942	.|ENSP00000400258:R942L	.|ENSP00000348366:R973L	A|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1636876|1636876	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.829000|0.829000	0.46940|0.46940	9.315000|9.315000	0.96313|0.96313	2.587000|2.587000	0.87381|0.87381	0.491000|0.491000	0.48974|0.48974	GCC|CGC	.		0.637	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1649469	G	T	1649469	3	4	21	1	0	0	0	0	1	0	0	0	4574	1087	38	2	2867	2	DLGAP2	8	1649469	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		1649469	144714553	33	3863											
MYOM2	9172	broad.mit.edu	37	chr8	2021562	2021562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgtcagcgaccacagcGccttcctgtttgtcagaggt	13	13	2	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:2021562G>T	ENST00000262113.4	+	10	1243	c.1102G>T	c.(1102-1104)Gcc>Tcc	p.A368S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	368	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGACCACAGCGCCTTCCTGTT	0.677																																					p.A368S		.											.	MYOM2-95	0			c.G1102T						.						40	35	37					8																	2021562		2203	4300	6503	SO:0001583	missense	9172	exon10			CACAGCGCCTTCC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1102G>T	8.37:g.2021562G>T	ENSP00000262113:p.Ala368Ser	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	89	4	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204957	0.95033	.	.	ENSG00000036448	ENST00000262113	T	0.70516	-0.49	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.76574	2.34	0.58432	D	0.999996	P	0.50528	0.936	P	0.59825	0.864	D	0.84330	0.0521	10	0.56958	D	0.05	.	18.0821	0.89444	0.0:0.0:1.0:0.0	.	368	P54296	MYOM2_HUMAN	S	368	ENSP00000262113:A368S	ENSP00000262113:A368S	A	+	1	0	MYOM2	2008969	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	9.433000	0.97501	2.237000	0.73441	0.655000	0.94253	GCC	.		0.677	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2021562	G	T	2021562	3	4	21	1	0	0	0	0	1	0	0	0	10130	1087	38	2	1136	2	MYOM2	8	2021562	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	372093	2021562	144342460	34	3864											
BHLHE22	27319	hgsc.bcm.edu	37	chr8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcctcgtcgccccTgggctgcttcgagccggctg	12	18	0	0	rs62519835	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4	5	4		185	2	1	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	11	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		A	65493532	T	A	65493532	3	1	21	1	0	0	0	0	1	0	0	0	1423	1580	55	5	187	5	BHLHE22	8	65493532	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	63471970	65493532	80870490	35	3865											
CSPP1	79848	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	68084742	68084742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcccctaagggcttagacGctgccacttttcagaatgtt	9	11	1	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:68084742G>T	ENST00000262210.5	+	23	2936	c.2905G>T	c.(2905-2907)Gct>Tct	p.A969S	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.A624S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1004					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)			GGGCTTAGACGCTGCCACTTT	0.403																																					p.A969S		.											.	CSPP1-138	0			c.G2905T						.						65	66	66					8																	68084742		1843	4098	5941	SO:0001583	missense	79848	exon23			TTAGACGCTGCCA	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.2905G>T	8.37:g.68084742G>T	ENSP00000262210:p.Ala969Ser	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	80	6	NM_024790	0	0	4	4	0	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116528	0.20795	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.35236	1.32;1.35;1.35	5.62	-5.35	0.02697	.	0.657112	0.14882	N	0.292924	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16166	0.002;0.016;0.006;0.006	B;B;B;B	0.14578	0.005;0.011;0.005;0.005	T	0.21211	-1.0252	10	0.18710	T	0.47	0.5209	0.6392	0.00807	0.2111:0.2483:0.2752:0.2654	.	127;624;969;1004	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	S	969;1004;624;624	ENSP00000262210:A969S;ENSP00000415782:A624S;ENSP00000430092:A624S	ENSP00000262210:A969S	A	+	1	0	CSPP1	68247296	0.000000	0.05858	0.000000	0.03702	0.744000	0.42396	-0.361000	0.07612	-1.792000	0.01259	0.655000	0.94253	GCT	.		0.403	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		T	68084742	G	T	68084742	3	4	21	1	0	0	0	0	1	0	0	0	3971	1087	38	2	3108	2	CSPP1	8	68084742	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	2591210	68084742	78279280	36	3866											
TMEM74	157753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	109796609	109796609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggatgacgccccccagcGtgaggaggcagagccccgca	14	15	0	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:109796609G>A	ENST00000297459.3	-	2	897	c.719C>T	c.(718-720)aCg>aTg	p.T240M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	240					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T240M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCCCCCCAGCGTGAGGAGGCA	0.587																																					p.T240M		.											.	TMEM74-228	1	Substitution - Missense(1)	prostate(1)	c.C719T						.						64	62	63					8																	109796609		2203	4300	6503	SO:0001583	missense	157753	exon2			CCCAGCGTGAGGA	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.719C>T	8.37:g.109796609G>A	ENSP00000297459:p.Thr240Met	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	114	31	NM_153015	0	0	0	0	0		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318149	0.81469	.	.	ENSG00000164841	ENST00000297459	T	0.19394	2.15	5.42	5.42	0.78866	.	0.102142	0.64402	D	0.000003	T	0.48040	0.1478	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	10	0.87932	D	0	-17.0071	19.416	0.94700	0.0:0.0:1.0:0.0	.	240	Q96NL1	TMM74_HUMAN	M	240	ENSP00000297459:T240M	ENSP00000297459:T240M	T	-	2	0	TMEM74	109865785	1.000000	0.71417	0.973000	0.42090	0.826000	0.46750	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	ACG	.		0.587	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		A	109796609	G	A	109796609	3	1	21	1	0	0	0	0	1	0	0	0	16249	1145	40	1	202	1	TMEM74	8	109796609	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	41711867	109796609	36567413	37	3867											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	13	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	21	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5JT-01A-11D-A29I-10	10424167	120220776	26143246	38	3868											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_030895	0	0	4	6	2	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	21	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JT-01A-11D-A29I-10	24158092	144378868	1985154	39	3869											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874554	144874554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccacctcccaggggTgggggggacgccgggctctg	21	13	1	0	rs6991873	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Silent_p.P1369P|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000356994.2_Silent_p.P1450P|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					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)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1		0.998	False		,,,				2504	1				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3	4	4		4350,4350	-2.9	0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	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.4350A>G	8.37:g.144874554T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015356	0	0	0	36	36	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144874554	T	C	144874554	2	2	21	1	0	0	0	0	0	0	0	1	13982	1683	59	4		4	SCRIB	8	144874554	Silent	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	495686	144874554	1489468	40	3870											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu	37	chr8	144940732	144940732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtccttggcgggcacCaggacgcccgcgatgcagct	16	14	0	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144940732C>T	ENST00000525985.1	-	2	6761	c.6690G>A	c.(6688-6690)ctG>ctA	p.L2230L				P58107	EPIPL_HUMAN	epiplakin 1	2230						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L2230L(1)		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)			TGGCGGGCACCAGGACGCCCG	0.687																																					p.L2230L		.											.	EPPK1-25	1	Substitution - coding silent(1)	kidney(1)	c.G6690A						.																																			SO:0001819	synonymous_variant	83481	exon1			GGGCACCAGGACG	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.6690G>A	8.37:g.144940732C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	88	5	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940732	C	T	144940732	2	4	21	1	0	0	0	0	0	0	0	1	5206	581	21	3		3	EPPK1	8	144940732	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	66178	144940732	1423290	41	3871											
TAF1L	138474	broad.mit.edu	37	chr9	32632961	32632961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaatccatccctgtgcGtttgaagtcagcgcagagct	11	10	1	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr9:32632961G>A	ENST00000242310.4	-	1	2706	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C	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	873					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCCTGTGCGTTTGAAGTCA	0.483																																					p.R873C		.											.	TAF1L-870	0			c.C2617T						.						147	147	147					9																	32632961		2203	4300	6503	SO:0001583	missense	138474	exon1			CTGTGCGTTTGAA	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.2617C>T	9.37:g.32632961G>A	ENSP00000418379:p.Arg873Cys	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	121	5	NM_153809	0	0	0	0	0	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548593	0.45383	.	.	ENSG00000122728	ENST00000242310	T	0.20332	2.08	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55231	-0.8173	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	873	Q8IZX4	TAF1L_HUMAN	C	873	ENSP00000418379:R873C	ENSP00000418379:R873C	R	-	1	0	TAF1L	32622961	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	6.138000	0.71717	0.632000	0.30432	0.195000	0.17529	CGC	.		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32632961	G	A	32632961	3	1	21	1	0	0	0	0	1	0	0	0	15570	1145	40	1	2867	1	TAF1L	9	32632961	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		32632961	108580470	42	3872											
PNPLA7	375775	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	140356481	140356481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaccgtgcgcccgtgctGgtagcccacttcctgtgcac	10	16	0	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr9:140356481G>T	ENST00000277531.4	-	31	3769	c.3583C>A	c.(3583-3585)Cag>Aag	p.Q1195K	NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.Q1220K|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.Q801K|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371472.2_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1195					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCCGTGCTGGTAGCCCACT	0.682																																					p.Q1220K		.											.	PNPLA7-91	0			c.C3658A						.						11	13	12					9																	140356481		2188	4292	6480	SO:0001583	missense	375775	exon32			CGTGCTGGTAGCC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3583C>A	9.37:g.140356481G>T	ENSP00000277531:p.Gln1195Lys	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_001098537	0	0	0	0	0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787679	0.49997	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000434090	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	4.33	4.33	0.51752	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	L	0.38175	1.15	0.80722	D	1	D;D;D;B	0.76494	0.972;0.999;0.997;0.125	P;D;D;B	0.83275	0.695;0.996;0.926;0.05	T	0.80281	-0.1448	10	0.29301	T	0.29	-26.2416	16.1832	0.81925	0.0:0.0:1.0:0.0	.	603;1220;1195;442	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	K	801;603;1195;1220;1186	ENSP00000360512:Q801K;ENSP00000360501:Q603K;ENSP00000277531:Q1195K;ENSP00000384610:Q1220K;ENSP00000400582:Q1186K	ENSP00000277531:Q1195K	Q	-	1	0	PNPLA7	139476302	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.372000	0.97165	2.126000	0.65437	0.462000	0.41574	CAG	.		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		T	140356481	G	T	140356481	3	4	21	1	0	0	0	0	1	0	0	0	12209	1357	47	3	386	3	PNPLA7	9	140356481	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	107723520	140356481	856950	43	3873											
ADARB2	105	hgsc.bcm.edu	37	chr10	1405402	1405402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagctccgcgcgcgccgctCggccggttctgccagacaca	13	17	1	1	rs191180422	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:1405402C>T	ENST00000381312.1	-	3	1223	c.898G>A	c.(898-900)Gag>Aag	p.E300K	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	300	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGCGCCGCTCGGCCGGTTCT	0.761													C|||	8	0.00159744	0	0.0043	5008	,	,		6987	0		0.001	False		,,,				2504	0.0041				p.E300K		.											.	ADARB2-153	0			c.G898A						.	C	LYS/GLU	2,3830		0,2,1914	4	4	4		898	3.3	0	10		4	29,7701		0,29,3836	no	missense	ADARB2	NM_018702.3	56	0,31,5750	TT,TC,CC		0.3752,0.0522,0.2681	benign	300/740	1405402	31,11531	1916	3865	5781	SO:0001583	missense	105	exon3			GCCGCTCGGCCGG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.898G>A	10.37:g.1405402C>T	ENSP00000370713:p.Glu300Lys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_018702	0	0	0	0	0	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990794	0.35131	5.22E-4	0.003752	ENSG00000185736	ENST00000381312	T	0.75821	-0.97	5.24	3.34	0.38264	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.204711	0.50627	N	0.000111	T	0.72700	0.3493	L	0.43646	1.37	0.80722	D	1	P	0.38711	0.643	P	0.45119	0.47	T	0.69450	-0.5142	10	0.36615	T	0.2	-25.1429	15.4893	0.75593	0.0:0.7376:0.2624:0.0	.	300	Q9NS39	RED2_HUMAN	K	300	ENSP00000370713:E300K	ENSP00000370713:E300K	E	-	1	0	ADARB2	1395402	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	2.572000	0.45999	0.561000	0.29186	-0.304000	0.09214	GAG	.		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1405402	C	T	1405402	3	4	21	1	0	0	0	0	1	0	0	0	283	893	31	1	1353	1	ADARB2	10	1405402	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		1405402	134129345	44	3874											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	32	15	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	21	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	45594815	47000217	88534530	45	3875											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001077494	0	0	0	11	11	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	21	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5JT-01A-11D-A29I-10	57158979	104159196	31375551	46	3876											
SLC18A2	6571	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	119003690	119003690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacatggtgaccaacgcGtccgctgttccttccgactg	10	15	0	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:119003690G>A	ENST00000298472.5	+	3	473	c.330G>A	c.(328-330)gcG>gcA	p.A110A	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	110					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)	TGACCAACGCGTCCGCTGTTC	0.517																																					p.A110A		.											.	SLC18A2-90	0			c.G330A						.						115	98	104					10																	119003690		2203	4300	6503	SO:0001819	synonymous_variant	6571	exon3			CAACGCGTCCGCT	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.330G>A	10.37:g.119003690G>A		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	121	42	NM_003054	0	0	0	0	0	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																			.		0.517	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		A	119003690	G	A	119003690	2	1	21	1	0	0	0	0	0	0	0	1	14471	1132	40	1		1	SLC18A2	10	119003690	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	14844494	119003690	16531057	47	3877											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC													tgagccgatcccacctggagTtgcttccgggggcctcaggc					rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D|KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		AC	135012430	TT	AC	135012429	3	1	21	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	DNP	TT	TCGA-OR-A5JT-01A-11D-A29I-10	16008739	135012429	522318	48	3878											
OR5L1	219437	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55579239	55579239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcctagggtgcatggtGcaattctacttgttttgcac	9	10	1	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:55579239G>A	ENST00000333973.2	+	1	386	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGCATGGTGCAATTCTACT	0.453																																					p.V99V		.											.	OR5L1-73	0			c.G297A						.						235	210	219					11																	55579239		2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			CATGGTGCAATTC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.297G>A	11.37:g.55579239G>A		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	168	96	NM_001004738	0	0	0	0	0	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			.		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		A	55579239	G	A	55579239	2	1	21	1	0	0	0	0	0	0	0	1	11209	1306	46	3		3	OR5L1	11	55579239	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		55579239	79427277	49	3879											
ARAP1	116985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	72412758	72412758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtagaggaagccactGtggctcacggtcggcaggac	15	10	2	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:72412758G>A	ENST00000393609.3	-	16	2440	c.2238C>T	c.(2236-2238)caC>caT	p.H746H	ARAP1_ENST00000426523.1_Silent_p.H501H|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000334211.8_Silent_p.H501H|ARAP1_ENST00000429686.1_Silent_p.H440H|ARAP1_ENST00000359373.5_Silent_p.H746H|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Silent_p.H746H|ARAP1_ENST00000393605.3_Silent_p.H506H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	746	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGAAGCCACTGTGGCTCACGG	0.622																																					p.H746H	Ovarian(102;1198 1520 13195 17913 37529)	.											.	ARAP1-91	0			c.C2238T						.						183	186	185					11																	72412758		2200	4293	6493	SO:0001819	synonymous_variant	116985	exon16			GCCACTGTGGCTC	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2238C>T	11.37:g.72412758G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	73	28	NM_001040118	0	0	12	23	11	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																			.		0.622	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		A	72412758	G	A	72412758	2	1	21	1	0	0	0	0	0	0	0	1	838	1368	48	3		3	ARAP1	11	72412758	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	16833519	72412758	62593758	50	3880											
PANX3	116337	broad.mit.edu	37	chr11	124489781	124489781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttattggctggcttagaaCcctcaaaacccaaacacctc	5	14	1	1	rs199566360	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:124489781C>A	ENST00000284288.2	+	4	1196	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	TBRG1_ENST00000441174.3_5'Flank	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	377					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGGCTTAGAACCCTCAAAACC	0.438																																					p.P377T		.											.	PANX3-68	0			c.C1129A						.						96	89	91					11																	124489781		2201	4299	6500	SO:0001583	missense	116337	exon4			TTAGAACCCTCAA	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1129C>A	11.37:g.124489781C>A	ENSP00000284288:p.Pro377Thr	Somatic	149	3		WXS	Illumina GAIIx	Phase_I	119	9	NM_052959	0	0	0	0	0		Missense_Mutation	SNP	ENST00000284288.2	37	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767469	0.31320	.	.	ENSG00000154143	ENST00000284288	T	0.16597	2.33	5.4	4.47	0.54385	.	0.353012	0.27941	N	0.017239	T	0.08980	0.0222	N	0.22421	0.69	0.29943	N	0.820918	B	0.14438	0.01	B	0.06405	0.002	T	0.30707	-0.9969	10	0.02654	T	1	-22.4649	8.7203	0.34436	0.2253:0.5086:0.266:0.0	.	377	Q96QZ0	PANX3_HUMAN	T	377	ENSP00000284288:P377T	ENSP00000284288:P377T	P	+	1	0	PANX3	123994991	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	0.489000	0.22387	1.236000	0.43740	0.561000	0.74099	CCC	C|0.999;T|0.001		0.438	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			A	124489781	C	A	124489781	3	1	21	1	0	0	0	0	1	0	0	0	11461	507	18	3	1143	3	PANX3	11	124489781	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	52077023	124489781	10516735	51	3881											
RPUSD4	84881	bcgsc.ca	37	chr11	126081403	126081403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttctccgctaatctcTgggcatttatggccgtagag	12	10	2	1	rs2282580	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:126081403T>C	ENST00000298317.4	-	1	184	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	RPUSD4_ENST00000533628.1_Missense_Mutation_p.Q44R|RPUSD4_ENST00000534393.1_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	44			Q -> R (in dbSNP:rs2282580). {ECO:0000269|PubMed:14702039}.		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)		CGCTAATCTCTGGGCATTTAT	0.582													T|||	2400	0.479233	0.2534	0.5576	5008	,	,		16167	0.8175		0.338	False		,,,				2504	0.5256				p.Q44R		.											.	RPUSD4-153	0			c.A131G						.	T	ARG/GLN,ARG/GLN	1178,3224	413.0+/-336.3	162,854,1185	138	147	144		131,131	5.3	0.4	11	dbSNP_100	144	2674,5924	430.0+/-356.4	429,1816,2054	yes	missense,missense	RPUSD4	NM_001144827.1,NM_032795.2	43,43	591,2670,3239	CC,CT,TT		31.1003,26.7606,29.6308	probably-damaging,probably-damaging	44/347,44/378	126081403	3852,9148	2201	4299	6500	SO:0001583	missense	84881	exon1			AATCTCTGGGCAT	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.131A>G	11.37:g.126081403T>C	ENSP00000298317:p.Gln44Arg	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	80	6	NM_001144827	0	0	3	3	0	E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	CCDS8469.1	1044	0.47802197802197804	135	0.27439024390243905	184	0.5082872928176796	472	0.8251748251748252	253	0.3337730870712401	T	12.23	1.874132	0.33069	0.267606	0.311003	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.41400	2.89;2.71;1.0	5.31	5.31	0.75309	.	0.524166	0.20250	N	0.096111	T	0.00012	0.0000	M	0.75447	2.3	0.09310	P	0.9999999999999989	P;P	0.45126	0.851;0.851	B;B	0.40165	0.321;0.253	T	0.27839	-1.0062	9	0.07325	T	0.83	-33.2137	11.581	0.50891	0.0:0.0:0.0:1.0	rs2282580;rs17803480;rs57431655;rs2282580	44;44	E9PML2;Q96CM3	.;RUSD4_HUMAN	R	44	ENSP00000298317:Q44R;ENSP00000433065:Q44R;ENSP00000433709:Q44R	ENSP00000298317:Q44R	Q	-	2	0	RPUSD4	125586613	0.992000	0.36948	0.370000	0.25965	0.024000	0.10985	2.462000	0.45049	2.224000	0.72417	0.528000	0.53228	CAG	T|0.608;C|0.392		0.582	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		C	126081403	T	C	126081403	3	2	21	1	0	0	0	0	1	0	0	0	13714	1580	55	4	1030	4	RPUSD4	11	126081403	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	1591622	126081403	8925113	52	3882											
KCNA1	3736	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	5020979	5020979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggagcgccctctgccCgagaaggagtaccagcgcca	15	13	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:5020979C>A	ENST00000382545.3	+	2	1542	c.435C>A	c.(433-435)ccC>ccA	p.P145P	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	145					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCCCTCTGCCCGAGAAGGAGT	0.617																																					p.P145P		.											.	KCNA1-228	0			c.C435A						.						67	71	70					12																	5020979		2203	4300	6503	SO:0001819	synonymous_variant	3736	exon2			TCTGCCCGAGAAG	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.435C>A	12.37:g.5020979C>A		Somatic	94	1		WXS	Illumina GAIIx	Phase_I	117	45	NM_000217	0	0	0	0	0	A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	CCDS8535.1																																																																																			.		0.617	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		A	5020979	C	A	5020979	2	1	21	1	0	0	0	0	0	0	0	1	8028	639	23	2		2	KCNA1	12	5020979	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		5020979	128830916	53	3883											
ATN1	1822	ucsc.edu	37	chr12	7045912	7045912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	13	14	0	0	rs144280633	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																					p.Q494Q		.											.	ATN1-139	0			c.G1482A						.						39	49	46					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	111	25	NM_001007026	2	2	3037	3117	76	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			G|0.972;A|0.028		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045912	G	A	7045912	2	1	21	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045912	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	2024933	7045912	126805983	54	3884											
GNS	2799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	65146525	65146525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgagagctttggtttTctttagcggtgtctgtaaaa	11	6	2	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:65146525T>C	ENST00000258145.3	-	2	375	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	GNS_ENST00000418919.2_Missense_Mutation_p.K13E|GNS_ENST00000542058.1_Intron|GNS_ENST00000543646.1_Missense_Mutation_p.K101E	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	69					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GCTTTGGTTTTCTTTAGCGGT	0.328																																					p.K69E		.											.	GNS-514	0			c.A205G						.						59	61	60					12																	65146525		2203	4300	6503	SO:0001583	missense	2799	exon2			TGGTTTTCTTTAG		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.205A>G	12.37:g.65146525T>C	ENSP00000258145:p.Lys69Glu	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	49	9	NM_002076	0	0	0	0	0	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190161	0.58017	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000545471	D;D;D	0.98567	-5.0;-3.95;-3.95	5.24	5.24	0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	L	0.55990	1.75	0.80722	D	1	P;B;B	0.41475	0.751;0.187;0.1	B;P;B	0.46026	0.287;0.501;0.096	D	0.97148	0.9829	9	.	.	.	-21.9895	15.8484	0.78907	0.0:0.0:0.0:1.0	.	101;69;13	F6S8M0;P15586;Q7Z3X3	.;GNS_HUMAN;.	E	13;69;101;6	ENSP00000413130:K13E;ENSP00000258145:K69E;ENSP00000438497:K101E	.	K	-	1	0	GNS	63432792	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	6.908000	0.75730	2.284000	0.76573	0.528000	0.53228	AAA	.		0.328	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			C	65146525	T	C	65146525	3	2	21	1	0	0	0	0	1	0	0	0	6576	1792	62	4	1505	4	GNS	12	65146525	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	58100613	65146525	68705370	55	3885											
DYRK2	8445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	68051422	68051422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacgatcacaaagtccaCcagcacgtggccctaaagat	8	14	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:68051422C>T	ENST00000344096.3	+	3	1148	c.735C>T	c.(733-735)caC>caT	p.H245H	DYRK2_ENST00000393555.3_Silent_p.H172H|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> N (in dbSNP:rs34166200). {ECO:0000269|PubMed:17344846}.		cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACAAAGTCCACCAGCACGTGG	0.582																																					p.H245H		.											.	DYRK2-861	0			c.C735T						.						74	58	63					12																	68051422		2203	4300	6503	SO:0001819	synonymous_variant	8445	exon3			AGTCCACCAGCAC	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.735C>T	12.37:g.68051422C>T		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	81	19	NM_006482	0	0	10	14	4	B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	CCDS8978.1																																																																																			.		0.582	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68051422	C	T	68051422	2	4	21	1	0	0	0	0	0	0	0	1	4870	506	18	3		3	DYRK2	12	68051422	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	2904897	68051422	65800473	56	3886											
SSH1	54434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	109182933	109182933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctccctggaggcctcagGagccccgctggctgtagggt	15	14	1	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:109182933G>A	ENST00000326495.5	-	15	2074	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	SSH1_ENST00000360239.3_Missense_Mutation_p.P349S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	661					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						GAGGCCTCAGGAGCCCCGCTG	0.577																																					p.P661S		.											.	SSH1-94	0			c.C1981T						.						31	31	31					12																	109182933		2203	4300	6503	SO:0001583	missense	54434	exon15			CCTCAGGAGCCCC	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.1981C>T	12.37:g.109182933G>A	ENSP00000315713:p.Pro661Ser	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	97	49	NM_018984	0	0	6	10	4	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	4.604	0.112259	0.08831	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.80909	-1.43;-1.43	5.2	2.32	0.28847	.	2.251250	0.01294	N	0.010102	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	1	B;P	0.41978	0.022;0.767	B;B	0.41510	0.015;0.359	T	0.63862	-0.6541	10	0.62326	D	0.03	-6.255	6.4192	0.21734	0.1634:0.1509:0.6857:0.0	.	661;349	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	349;661	ENSP00000353374:P349S;ENSP00000315713:P661S	ENSP00000315713:P661S	P	-	1	0	SSH1	107707062	0.236000	0.23804	0.006000	0.13384	0.007000	0.05969	0.888000	0.28268	0.679000	0.31345	-0.300000	0.09419	CCT	.		0.577	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109182933	G	A	109182933	3	1	21	1	0	0	0	0	1	0	0	0	15231	1174	41	3	1172	3	SSH1	12	109182933	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	41131511	109182933	24668962	57	3887											
ACACB	32	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	109616998	109616999	+	Frame_Shift_Del	DEL	TC	TC	-													accagtatgggaatgctgtgTctctgtttggtcgcgactgc							TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:109616998_109616999delTC	ENST00000338432.7	+	10	1662_1663	c.1543_1544delTC	c.(1543-1545)tctfs	p.S515fs	ACACB_ENST00000377854.5_Frame_Shift_Del_p.S515fs|ACACB_ENST00000377848.3_Frame_Shift_Del_p.S515fs|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	515	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAATGCTGTGTCTCTGTTTGGT	0.589																																					p.515_515del		.											.	ACACB-98	0			c.1543_1544del						.																																			SO:0001589	frameshift_variant	32	exon9			GCTGTGTCTCTGT	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.1543_1544delTC	12.37:g.109617000_109617001delTC	ENSP00000341044:p.Ser515fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	116	26	NM_001093	0	0	0	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Del	DEL	ENST00000338432.7	37	CCDS31898.1																																																																																			.		0.589	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		-	109616999	TC	-	109616998	7	5	21	1	0	1	0	1	0	0	0	0	107	1667	58	0	1577	0	ACACB	12	109616998	Frame_Shift_Del	DEL	TC	TCGA-OR-A5JT-01A-11D-A29I-10	434065	109616998	24234897	58	3888											
IL31	386653	broad.mit.edu;bcgsc.ca	37	chr12	122657198	122657198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatatgcccggatggctgGgctgtggatgttgtttggcg	18	6	0	1	rs146057190	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:122657198G>A	ENST00000377035.1	-	3	282	c.256C>T	c.(256-258)Cca>Tca	p.P86S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	86					immune system process (GO:0002376)	extracellular space (GO:0005615)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGGATGGCTGGGCTGTGGATG	0.512																																					p.P86S		.											.	IL31-514	0			c.C256T						.						178	137	151					12																	122657198		2203	4300	6503	SO:0001583	missense	386653	exon3			TGGCTGGGCTGTG	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"Interleukins and interleukin receptors"	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.256C>T	12.37:g.122657198G>A	ENSP00000366234:p.Pro86Ser	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	264	11	NM_001014336	0	0	0	0	0	A2RUQ1	Missense_Mutation	SNP	ENST00000377035.1	37	CCDS31919.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310035	0.01342	.	.	ENSG00000204671	ENST00000377035	.	.	.	4.18	0.158	0.14942	.	1.620550	0.03983	N	0.293655	T	0.09468	0.0233	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	9	0.05721	T	0.95	-1.8095	5.026	0.14385	0.4764:0.4169:0.1066:0.0	.	86	Q6EBC2	IL31_HUMAN	S	86	.	ENSP00000366234:P86S	P	-	1	0	IL31	121223151	0.012000	0.17670	0.000000	0.03702	0.003000	0.03518	0.306000	0.19279	0.058000	0.16222	-0.440000	0.05779	CCA	G|0.999;T|0.001		0.512	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336		A	122657198	G	A	122657198	3	1	21	1	0	0	0	0	1	0	0	0	7717	1232	43	3	242	3	IL31	12	122657198	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	13040200	122657198	11194697	59	3889											
POMP	51371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	29242664	29242664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactgagaaacattcagggtCtatttgctccgctaaaatta	7	9	2	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:29242664C>G	ENST00000380842.4	+	4	298	c.217C>G	c.(217-219)Cta>Gta	p.L73V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	73					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		CATTCAGGGTCTATTTGCTCC	0.373																																					p.L73V		.											.	POMP-90	0			c.C217G						.						117	111	113					13																	29242664		2203	4300	6503	SO:0001583	missense	51371	exon4			CAGGGTCTATTTG	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.217C>G	13.37:g.29242664C>G	ENSP00000370222:p.Leu73Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	70	37	NM_015932	0	0	105	194	89	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834178	0.91036	.	.	ENSG00000132963	ENST00000380842	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.79258	2.445	0.80722	D	1	P	0.52463	0.953	P	0.53649	0.731	T	0.73180	-0.4064	9	0.38643	T	0.18	-12.0143	19.6313	0.95704	0.0:1.0:0.0:0.0	.	73	Q9Y244	POMP_HUMAN	V	73	.	ENSP00000370222:L73V	L	+	1	2	POMP	28140664	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	4.185000	0.58330	2.937000	0.99478	0.650000	0.86243	CTA	.		0.373	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		G	29242664	C	G	29242664	3	3	21	1	0	0	0	0	1	0	0	0	12283	912	32	3	231	3	POMP	13	29242664	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		29242664	85927214	60	3890											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005537	0	0	1	2	1	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	21	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	82125652	111368316	3801562	61	3891											
DCUN1D2	55208	bcgsc.ca	37	chr13	114112384	114112384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgactactggccgtGcatattctacaaaatcatct	6	12	3	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:114112384G>T	ENST00000478244.1	-	7	1022	c.740C>A	c.(739-741)gCa>gAa	p.A247E	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.A114E	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	247	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TACTGGCCGTGCATATTCTAC	0.433											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A247E		.											.	DCUN1D2-90	0			c.C740A						.						217	224	222					13																	114112384		2203	4300	6503	SO:0001583	missense	55208	exon7			GGCCGTGCATATT	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.740C>A	13.37:g.114112384G>T	ENSP00000417706:p.Ala247Glu	Somatic	84	0	1455	WXS	Illumina GAIIx	Phase_I	82	5	NM_001014283	0	0	10	10	0	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740095	0.49045	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.9	4.06	0.47325	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.52206	1.635	0.80722	D	1	D	0.63880	0.993	D	0.68353	0.957	T	0.63400	-0.6646	9	0.27082	T	0.32	.	13.1847	0.59673	0.077:0.0:0.923:0.0	.	247	Q6PH85	DCNL2_HUMAN	E	114;247	.	ENSP00000330629:A114E	A	-	2	0	DCUN1D2	113160385	1.000000	0.71417	0.157000	0.22605	0.006000	0.05464	5.915000	0.69973	1.069000	0.40788	0.655000	0.94253	GCA	.		0.433	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		T	114112384	G	T	114112384	3	4	21	1	0	0	0	0	1	0	0	0	4323	1319	46	3	43	3	DCUN1D2	13	114112384	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	2744068	114112384	1057494	62	3892											
FOXA1	3169	hgsc.bcm.edu	37	chr14	38061547	38061547	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcgcggctgcggcccaGgttggacggcgcgtacgcca	17	16	0	0	rs112819884	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr14:38061547G>C	ENST00000250448.2	-	2	503	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.L115V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	148					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ctgcggcccAGGTTGGACGGC	0.706													G|||	26	0.00519169	0.0015	0.0072	5008	,	,		11950	0		0.0159	False		,,,				2504	0.0031				p.L148V		.											.	FOXA1-226	0			c.C442G						.	G	VAL/LEU	15,4381		0,15,2183	27	28	28		442	2	1	14	dbSNP_132	28	164,8384		4,156,4114	yes	missense	FOXA1	NM_004496.2	32	4,171,6297	CC,CG,GG		1.9186,0.3412,1.3829	benign	148/473	38061547	179,12765	2198	4274	6472	SO:0001583	missense	3169	exon2			GGCCCAGGTTGGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.442C>G	14.37:g.38061547G>C	ENSP00000250448:p.Leu148Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_004496	0	0	0	0	0	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	13	0.005952380952380952	0	0.0	2	0.0055248618784530384	0	0.0	11	0.014511873350923483	G	14.49	2.551711	0.45487	0.003412	0.019186	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	3.9	2.05	0.26809	Fork-head N-terminal (1);	1.490980	0.04311	N	0.349066	T	0.12433	0.0302	L	0.54323	1.7	0.40442	D	0.980059	P	0.36412	0.552	B	0.38428	0.273	T	0.07009	-1.0795	10	0.56958	D	0.05	.	5.0319	0.14413	0.1815:0.0:0.6544:0.1641	.	148	P55317	FOXA1_HUMAN	V	148;115	ENSP00000250448:L148V;ENSP00000440178:L115V	ENSP00000250448:L148V	L	-	1	2	FOXA1	37131298	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.689000	0.54706	0.320000	0.23234	-0.362000	0.07510	CTG	G|0.992;C|0.008		0.706	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			C	38061547	G	C	38061547	3	2	21	1	0	0	0	0	1	0	0	0	6011	991	35	3	980	3	FOXA1	14	38061547	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		38061547	69287993	63	3893											
LTK	4058	hgsc.bcm.edu	37	chr15	41803754	41803754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggccgccaccagcaacGgttccagctcgccagcgcgc	11	20	0	0	rs55739813	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:41803754G>A	ENST00000263800.6	-	6	776	c.680C>T	c.(679-681)cCg>cTg	p.P227L	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.P227L|LTK_ENST00000453182.2_Missense_Mutation_p.P227L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	227					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CACCAGCAACGGTTCCAGCTC	0.736										TSP Lung(18;0.14)			G|||	160	0.0319489	0.0038	0.0692	5008	,	,		8690	0.0119		0.0517	False		,,,				2504	0.044				p.P227L		.											.	LTK-1377	0			c.C680T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	29,3047		0,29,1509	5	6	6		680,680,680	2.9	1	15	dbSNP_129	6	336,6434		4,328,3053	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	98,98,98	4,357,4562	AA,AG,GG		4.9631,0.9428,3.7071	probably-damaging,probably-damaging,probably-damaging	227/735,227/865,227/804	41803754	365,9481	1538	3385	4923	SO:0001583	missense	4058	exon6			AGCAACGGTTCCA	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.680C>T	15.37:g.41803754G>A	ENSP00000263800:p.Pro227Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001135685	0	0	0	0	0	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	80	0.03663003663003663	8	0.016260162601626018	26	0.0718232044198895	7	0.012237762237762238	39	0.051451187335092345	G	17.32	3.359770	0.61403	0.009428	0.049631	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.40476	1.03;1.03;1.03	3.86	2.94	0.34122	.	.	.	.	.	T	0.09512	0.0234	M	0.62016	1.91	0.39097	D	0.961214	P;P;D	0.89917	0.658;0.606;1.0	B;B;D	0.97110	0.164;0.102;1.0	T	0.26052	-1.0114	9	0.87932	D	0	.	10.0097	0.41979	0.1032:0.0:0.8968:0.0	rs55739813	227;227;227	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	L	227	ENSP00000347293:P227L;ENSP00000263800:P227L;ENSP00000392196:P227L	ENSP00000263800:P227L	P	-	2	0	LTK	39591046	1.000000	0.71417	0.999000	0.59377	0.333000	0.28666	5.205000	0.65186	0.603000	0.29913	0.455000	0.32223	CCG	G|0.962;A|0.038		0.736	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			A	41803754	G	A	41803754	3	1	21	1	0	0	0	0	1	0	0	0	9115	1116	39	1	1974	1	LTK	15	41803754	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		41803754	60727638	64	3894											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_171846	0	0	0	3	3	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	21	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JT-01A-11D-A29I-10	21610329	63414083	39117309	65	3895											
NEO1	4756	ucsc.edu	37	chr15	73428301	73428301	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttactgaggatgatgctggGacttatttttgtatagctga	12	4	0	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:73428301G>T	ENST00000339362.5	+	6	1395	c.948G>T	c.(946-948)ggG>ggT	p.G316G	NEO1_ENST00000558964.1_Silent_p.G316G|NEO1_ENST00000560262.1_Silent_p.G316G|NEO1_ENST00000261908.6_Silent_p.G316G			Q92859	NEO1_HUMAN	neogenin 1	316	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGATGCTGGGACTTATTTTT	0.338																																					p.G316G		.											.	NEO1-116	0			c.G948T						.						108	109	109					15																	73428301		2198	4297	6495	SO:0001819	synonymous_variant	4756	exon5			TGCTGGGACTTAT	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.948G>T	15.37:g.73428301G>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_001172623	0	0	1	1	0	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																			.		0.338	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		T	73428301	G	T	73428301	2	4	21	1	0	0	0	0	0	0	0	1	10375	1161	41	3		3	NEO1	15	73428301	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	10014218	73428301	29103091	66	3896											
ADAMTS7	11173	bcgsc.ca	37	chr15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcccacaccacttgcctCgctccagtttcccgcttgcc	6	21	0	0	rs200769684		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1422K(3)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACTTGCCTCGCTCCAGTTT	0.657																																					p.E1422K		.											.	ADAMTS7-226	3	Substitution - Missense(3)	skin(2)|NS(1)	c.G4264A						.						31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173	exon19			TTGCCTCGCTCCA	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys	Somatic	70	6		WXS	Illumina GAIIx	Phase_I	81	19	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG	C|0.999;T|0.001		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	21	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	5629688	79057989	23473403	67	3897											
CACNA1H	8912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1254107	1254107	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgagctgaagagctgCccgtactgcacccgtgccct	11	15	0	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:1254107C>A	ENST00000348261.5	+	10	2348	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.C700*|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.C700*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	700					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGAAGAGCTGCCCGTACTGCA	0.677																																					p.C700X		.											.	CACNA1H-67	0			c.C2100A						.						18	22	21					16																	1254107		2063	4202	6265	SO:0001587	stop_gained	8912	exon10			GAGCTGCCCGTAC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2100C>A	16.37:g.1254107C>A	ENSP00000334198:p.Cys700*	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	131	64	NM_021098	0	0	23	31	8	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115786	0.94339	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.05	3.1	0.35709	.	0.233988	0.43919	D	0.000516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3351	0.38045	0.0:0.8159:0.0:0.1841	.	.	.	.	X	700	.	ENSP00000334198:C700X	C	+	3	2	CACNA1H	1194108	0.997000	0.39634	0.993000	0.49108	0.321000	0.28281	0.532000	0.23067	0.932000	0.37266	0.561000	0.74099	TGC	.		0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1254107	C	A	1254107	4	1	21	1	0	0	0	0	0	1	0	0	2552	747	26	3	2134	3	CACNA1H	16	1254107	Nonsense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		1254107	89100646	68	3898											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_001257370	0	0	1	1	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	21	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	569337	1823444	88531309	69	3899											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_178167	0	0	0	9	9	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	21	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5JT-01A-11D-A29I-10	236230	2059674	88295079	70	3900											
E4F1	1877	broad.mit.edu	37	chr16	2282180	2282180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcctaggtggtgggCacatcaaagaggtcatcgtg	13	9	3	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:2282180C>A	ENST00000301727.4	+	4	472	c.424C>A	c.(424-426)Cac>Aac	p.H142N	E4F1_ENST00000564139.1_Missense_Mutation_p.H142N|E4F1_ENST00000565090.1_Missense_Mutation_p.H142N	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	142					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						AGGTGGTGGGCACATCAAAGA	0.687																																					p.H142N		.											.	E4F1-187	0			c.C424A						.						62	74	70					16																	2282180		2196	4292	6488	SO:0001583	missense	1877	exon4			GGTGGGCACATCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.424C>A	16.37:g.2282180C>A	ENSP00000301727:p.His142Asn	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	42	5	NM_004424	0	0	3	3	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993031	0.35131	.	.	ENSG00000167967	ENST00000301727	T	0.06218	3.33	5.33	1.97	0.26223	.	0.446382	0.27705	N	0.018185	T	0.14098	0.0341	L	0.42245	1.32	0.40811	D	0.98342	B;B;D	0.63880	0.076;0.076;0.993	B;B;D	0.70227	0.041;0.021;0.968	T	0.01397	-1.1365	10	0.87932	D	0	-13.8253	8.2677	0.31824	0.3165:0.5301:0.1534:0.0	.	138;142;142	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	N	142	ENSP00000301727:H142N	ENSP00000301727:H142N	H	+	1	0	E4F1	2222181	1.000000	0.71417	0.983000	0.44433	0.868000	0.49771	1.279000	0.33191	0.569000	0.29329	0.561000	0.74099	CAC	.		0.687	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		A	2282180	C	A	2282180	3	1	21	1	0	0	0	0	1	0	0	0	4888	710	25	3	438	3	E4F1	16	2282180	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	222506	2282180	88072573	71	3901											
VASN	114990	hgsc.bcm.edu;broad.mit.edu	37	chr16	4431679	4431679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcctggctgccctgcaGgagctggatgtgagcaacct	15	13	0	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:4431679G>A	ENST00000304735.3	+	2	956	c.801G>A	c.(799-801)caG>caA	p.Q267Q	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	267					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CTGCCCTGCAGGAGCTGGATG	0.726																																					p.Q267Q		.											.	VASN-68	0			c.G801A						.						9	11	11					16																	4431679		2172	4269	6441	SO:0001819	synonymous_variant	114990	exon2			CCTGCAGGAGCTG	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.801G>A	16.37:g.4431679G>A		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	71	16	NM_138440	0	0	1	1	0	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																			.		0.726	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		A	4431679	G	A	4431679	2	1	21	1	0	0	0	0	0	0	0	1	17176	991	35	3		3	VASN	16	4431679	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	2149499	4431679	85923074	72	3902											
VAT1L	57687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	77918647	77918647	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaactcatagggctctAcaaccagaagaagatcaagc	9	9	3	3			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:77918647A>T	ENST00000302536.2	+	7	1178	c.1025A>T	c.(1024-1026)tAc>tTc	p.Y342F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	342							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ATAGGGCTCTACAACCAGAAG	0.483																																					p.Y342F		.											.	VAT1L-90	0			c.A1025T						.						47	48	48					16																	77918647		2198	4300	6498	SO:0001583	missense	57687	exon7			GGCTCTACAACCA	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1025A>T	16.37:g.77918647A>T	ENSP00000303129:p.Tyr342Phe	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	78	7	NM_020927	0	0	102	105	3	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933629	0.52866	.	.	ENSG00000171724	ENST00000302536	T	0.08008	3.14	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.054032	0.85682	D	0.000000	T	0.06872	0.0175	N	0.16266	0.395	0.58432	D	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.40905	-0.9538	10	0.24483	T	0.36	-2.5168	16.0209	0.80493	1.0:0.0:0.0:0.0	.	342	Q9HCJ6	VAT1L_HUMAN	F	342	ENSP00000303129:Y342F	ENSP00000303129:Y342F	Y	+	2	0	VAT1L	76476148	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.997000	0.76270	2.266000	0.75297	0.455000	0.32223	TAC	.		0.483	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		T	77918647	A	T	77918647	3	4	21	1	0	0	0	0	1	0	0	0	17179	391	14	5	1051	5	VAT1L	16	77918647	Missense_Mutation	SNP	A	TCGA-OR-A5JT-01A-11D-A29I-10	73486968	77918647	12436106	73	3903											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	21	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JT-01A-11D-A29I-10	10681050	88599697	1755056	74	3904											
KDM6B	23135	broad.mit.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs375218857|rs61462443		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	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						ccaccaccattaccaccaccac	0.614																																					p.L251delinsLPP		.											.	KDM6B-205	0			c.752_753insACCACC						.																																			SO:0001652	inframe_insertion	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.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	8	2	NM_001080424	0	0	0	0	0	C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37																																																																																				.		0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		ACCACC	7750178	-	ACCACC	7750177	7	5	21	1	0	1	1	0	0	0	0	0	8165	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-OR-A5JT-01A-11D-A29I-10		7750177	73445033	75	3905											
SARM1	113235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26723260	26723260	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggactcatctgcaggCtctgacaccagtttggaggg	13	12	3	1	rs530770250		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:26723260C>A	ENST00000440501.1	-	0	4887				SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_Silent_p.G676G|SLC46A1_ENST00000321666.5_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CATCTGCAGGCTCTGACACCA	0.597																																					p.G709G		.											.	.	0			c.C2127A						.						85	85	85					17																	26723260		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23098	exon10			TGCAGGCTCTGAC	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3412G>T	17.37:g.26723260C>A		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	41	18	NM_015077	0	0	3	6	3	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37																																																																																				.		0.597	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		A	26723260	C	A	26723260	1	1	21	0	1	0	0	0	0	0	0	0	13887	784	28	3		3	SARM1	17	26723260	3'UTR	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	18973083	26723260	54471950	76	3906											
GPR179	440435	broad.mit.edu	37	chr17	36483472	36483472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgggcacacgtcagcggCcctgcccccagtgctgacca	11	18	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:36483472C>A	ENST00000342292.4	-	11	6000	c.5980G>T	c.(5980-5982)Gcc>Tcc	p.A1994S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1994					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)				ACGTCAGCGGCCCTGCCCCCA	0.572																																					p.A1994S		.											.	GPR179-93	0			c.G5980T						.						58	58	58					17																	36483472		2022	4189	6211	SO:0001583	missense	440435	exon11			CAGCGGCCCTGCC		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.5980G>T	17.37:g.36483472C>A	ENSP00000345060:p.Ala1994Ser	Somatic	80	1		WXS	Illumina GAIIx	Phase_I	61	6	NM_001004334	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838049	0.32513	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.78	-0.835	0.10775	.	2.989320	0.01141	N	0.006215	T	0.35941	0.0949	L	0.52573	1.65	0.09310	N	1	B	0.31910	0.346	B	0.24269	0.052	T	0.07252	-1.0782	10	0.08599	T	0.76	3.1037	6.0046	0.19539	0.0:0.5146:0.1542:0.3312	.	1994	Q6PRD1	GP179_HUMAN	S	1994	ENSP00000345060:A1994S	ENSP00000345060:A1994S	A	-	1	0	GPR179	33736998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.142000	0.16096	-0.259000	0.09432	0.561000	0.74099	GCC	.		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36483472	C	A	36483472	3	1	21	1	0	0	0	0	1	0	0	0	6700	739	26	3	1127	3	GPR179	17	36483472	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	9760212	36483472	44711738	77	3907											
EMILIN2	84034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	2892375	2892375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacggaacgctcaggtcGcattccagagacatttctgg	11	10	2	2			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr18:2892375G>A	ENST00000254528.3	+	4	2409	c.2250G>A	c.(2248-2250)tcG>tcA	p.S750S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	750					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)		CGCTCAGGTCGCATTCCAGAG	0.483																																					p.S750S		.											.	EMILIN2-93	0			c.G2250A						.						62	57	59					18																	2892375		2203	4300	6503	SO:0001819	synonymous_variant	84034	exon4			CAGGTCGCATTCC	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.2250G>A	18.37:g.2892375G>A		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_032048	0	0	0	0	0	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																			.		0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		A	2892375	G	A	2892375	2	1	21	1	0	0	0	0	0	0	0	1	5110	1074	38	1		1	EMILIN2	18	2892375	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		2892375	75184873	78	3908											
RAVER1	125950	broad.mit.edu	37	chr19	10433923	10433923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatgttgggctcggGgaggagtcccttcccccgat	15	12	0	0			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:10433923G>A	ENST00000293677.6	-	5	1108	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	326	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TTGGGCTCGGGGAGGAGTCCC	0.667																																					p.P343S		.											.	RAVER1-91	0			c.C1027T						.						37	41	40					19																	10433923		2047	4199	6246	SO:0001583	missense	125950	exon5			GCTCGGGGAGGAG		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1027C>T	19.37:g.10433923G>A	ENSP00000293677:p.Pro343Ser	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	108	5	NM_133452	0	0	27	27	0	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.060701	0.55432	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.18810	2.19	4.98	2.82	0.32997	.	0.200808	0.43110	D	0.000619	T	0.36468	0.0968	L	0.54323	1.7	0.33402	D	0.577482	D	0.89917	1.0	D	0.91635	0.999	T	0.48525	-0.9028	10	0.87932	D	0	-12.6954	7.7382	0.28827	0.0876:0.0:0.75:0.1625	.	343	E9PAU2	.	S	343;326	ENSP00000293677:P343S	ENSP00000293677:P343S	P	-	1	0	RAVER1	10294923	1.000000	0.71417	0.370000	0.25965	0.371000	0.29859	8.896000	0.92521	0.504000	0.28082	0.506000	0.49869	CCC	.		0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		A	10433923	G	A	10433923	3	1	21	1	0	0	0	0	1	0	0	0	13139	1232	43	3	1279	3	RAVER1	19	10433923	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10		10433923	48695060	79	3909											
PRKACA	5566	hgsc.bcm.edu	37	chr19	14204529	14204530	+	In_Frame_Ins	INS	-	-	CTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC													ttcttgaggttcccaaagcgINScttggtgagatctacctgca							TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:14204529_14204530insCTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	ENST00000308677.4	-	9	1036_1037	c.840_841insGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG	c.(838-843)aagcgc>aagGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAGcgc	p.279_280insKDLLRNLLQVDLT	PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_In_Frame_Ins_p.271_272insKDLLRNLLQVDLT|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTCCCAAAGCGCTTGGTGAGAT	0.554																																					p.R281delinsDLLRNLLQVDLTKR		.											.	PRKACA-978	0			c.841_842insGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG						.																																			SO:0001652	inframe_insertion	5566	exon9			CAAAGCGCTTGGT		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.802_840dupGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG	19.37:g.14204529_14204530insCTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	ENSP00000309591:p.Lys267_Thr279dup	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	127	0	NM_002730	0	0	0	0	0	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	In_Frame_Ins	INS	ENST00000308677.4	37	CCDS12304.1																																																																																			.		0.554	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		CTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	14204530	-	CTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	14204529	7	5	21	1	0	1	1	0	0	0	0	0	12539	1087	38	0	222	0	PRKACA	19	14204529	In_Frame_Ins	INS	-	TCGA-OR-A5JT-01A-11D-A29I-10	3770606	14204529	44924454	80	3910											
EMR2	30817	bcgsc.ca	37	chr19	14877820	14877820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgggtcctcaggtttgaGcttgaagccaggcaggcact	13	11	1	2	rs12976493	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:14877820G>A	ENST00000315576.3	-	6	908	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	EMR2_ENST00000594294.1_Missense_Mutation_p.L153F|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L153F|EMR2_ENST00000392967.2_Missense_Mutation_p.L153F|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L153F|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L153F|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000601345.1_Missense_Mutation_p.L153F	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCAGGTTTGAGCTTGAAGCCA	0.597													G|||	2024	0.404153	0.5749	0.4366	5008	,	,		12315	0.3373		0.4473	False		,,,				2504	0.1748				p.L153F		.											.	EMR2-524	0			c.C457T						.						58	59	59					19																	14877820		1523	3365	4888	SO:0001583	missense	30817	exon5			GTTTGAGCTTGAA	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.457C>T	19.37:g.14877820G>A	ENSP00000319883:p.Leu153Phe	Somatic	107	9		WXS	Illumina GAIIx	Phase_I	28	18	NM_001271052	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	767	0.35119047619047616	232	0.4715447154471545	141	0.38950276243093923	148	0.25874125874125875	246	0.3245382585751979	G	0.014	-1.577939	0.00879	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;T;D;D	0.88741	-2.42;-2.42;-1.42;-2.42;-2.42	3.06	-6.11	0.02131	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.48218	1.51	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.15954	-1.0419	8	0.09843	T	0.71	.	6.3278	0.21253	0.607:0.0:0.2568:0.1362	rs12976493	153;153;153;153	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	F	153	ENSP00000319883:L153F;ENSP00000376694:L153F;ENSP00000263380:L153F;ENSP00000376692:L153F;ENSP00000376689:L153F	ENSP00000319883:L153F	L	-	1	0	EMR2	14738820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-1.716000	0.01387	-1.973000	0.00462	CTC	A|1.000;|0.000		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14877820	G	A	14877820	3	1	21	1	0	0	0	0	1	0	0	0	5121	971	34	3	2078	3	EMR2	19	14877820	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	673291	14877820	44251163	81	3911											
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccgagcgcacgctggcctCtgtgtgcgccctgctggtgt	15	15	1	0	rs17710707	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5	5	5		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	14	NM_018174	0	0	0	10	10	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		G	17837425	C	G	17837425	3	3	21	1	0	0	0	0	1	0	0	0	9272	913	32	3	1250	3	MAP1S	19	17837425	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10	2959605	17837425	41291558	82	3912											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000340740.3_Missense_Mutation_p.P288L			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	21	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	21523295	39360720	19768263	83	3913											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	9	NM_024855	0	0	0	1	1	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	21	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		37377139	25648381	84	3914											
OTC	5009	bcgsc.ca	37	chrX	38260574	38260574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattggctcgagtgtataaaCaatcagatttggacaccctg	9	8	1	1			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chrX:38260574C>A	ENST00000039007.4	+	5	585	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	145					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.Q145K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGTGTATAAACAATCAGATTT	0.403																																					p.Q145K		.											.	OTC-172	1	Substitution - Missense(1)	prostate(1)	c.C433A						.						108	81	90					X																	38260574		2202	4300	6502	SO:0001583	missense	5009	exon5			TATAAACAATCAG	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.433C>A	X.37:g.38260574C>A	ENSP00000039007:p.Gln145Lys	Somatic	111	5		WXS	Illumina GAIIx	Phase_I	168	15	NM_000531	0	0	0	0	0	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114759	0.77210	.	.	ENSG00000036473	ENST00000039007	D	0.98345	-4.88	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.187966	0.64402	D	0.000019	D	0.97244	0.9099	M	0.72576	2.205	0.58432	D	0.999997	P	0.37525	0.598	B	0.32805	0.153	D	0.97447	1.0025	10	0.87932	D	0	-0.3779	19.371	0.94484	0.0:1.0:0.0:0.0	.	145	P00480	OTC_HUMAN	K	145	ENSP00000039007:Q145K	ENSP00000039007:Q145K	Q	+	1	0	OTC	38145518	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.527000	0.85204	0.600000	0.82982	CAA	.		0.403	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			A	38260574	C	A	38260574	3	1	21	1	0	0	0	0	1	0	0	0	11340	479	17	3	451	3	OTC	23	38260574	Missense_Mutation	SNP	C	TCGA-OR-A5JT-01A-11D-A29I-10		38260574	117009986	85	3915											
RAB40AL	282808	ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	102192303	102192303	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgctcaagttcctgctGgtgggcgacagggacgtagg	15	10	1	0	rs150070913	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chrX:102192303G>T	ENST00000218249.5	+	1	104	c.57G>T	c.(55-57)ctG>ctT	p.L19L	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	19					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AGTTCCTGCTGGTGGGCGACA	0.667													.|||	6	0.0015894	0.0045	0	3775	,	,		10027	0		0	False		,,,				2504	0				p.L19L		.											.	RAB40AL-92	0			c.G57T						.	G		9,3826		0,9,1623,571	45	56	53		57	-0.1	0.8	X	dbSNP_134	53	0,6728		0,0,2428,1872	no	coding-synonymous	RAB40AL	NM_001031834.1		0,9,4051,2443	TT,TG,GG,G		0.0,0.2347,0.0852		19/279	102192303	9,10554	2203	4300	6503	SO:0001819	synonymous_variant	282808	exon1			CCTGCTGGTGGGC	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.57G>T	X.37:g.102192303G>T		Somatic	249	2		WXS	Illumina GAIIx	Phase_I	410	91	NM_001031834	0	0	1	1	0	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			G|0.998;T|0.002		0.667	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		T	102192303	G	T	102192303	2	4	21	1	0	0	0	0	0	0	0	1	12985	1335	47	3		3	RAB40AL	23	102192303	Silent	SNP	G	TCGA-OR-A5JT-01A-11D-A29I-10	63931729	102192303	53078257	86	3916											
ACTRT2	140625	bcgsc.ca	37	chr1	2938569	2938569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacccagcgaccagcccCtgcttgcaacggagccctcc	9	18	0	1	rs35806103	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:2938569C>T	ENST00000378404.2	+	1	524	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGACCAGCCCCTGCTTGCAAC	0.597													C|||	186	0.0371406	0.1074	0.0418	5008	,	,		18299	0		0.0149	False		,,,				2504	0				p.L107L		.											.	ACTRT2-90	0			c.C319T						.	C		396,4010	197.1+/-221.3	10,376,1817	78	77	77		319	1.9	0.5	1	dbSNP_126	77	92,8508	52.3+/-112.8	0,92,4208	no	coding-synonymous	ACTRT2	NM_080431.4		10,468,6025	TT,TC,CC		1.0698,8.9877,3.7521		107/378	2938569	488,12518	2203	4300	6503	SO:0001819	synonymous_variant	140625	exon1			CAGCCCCTGCTTG	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.319C>T	1.37:g.2938569C>T		Somatic	154	2		WXS	Illumina GAIIx	Phase_I	109	5	NM_080431	0	0	0	0	0	B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	CCDS45.1																																																																																			C|0.963;T|0.037		0.597	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		T	2938569	C	T	2938569	2	4	22	1	0	0	0	0	0	0	0	1	219	680	24	3		3	ACTRT2	1	2938569	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		2938569	246312052	1	3917											
MED8	112950	ucsc.edu	37	chr1	43850152	43850152	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtgggcatttttttttCcttcctggcccagaagcttc	10	11	0	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:43850152C>T	ENST00000372457.4	-	0	1411				RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.G292E	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTTTTTTTCCTTCCTGGCC	0.502																																					p.G292E		.											.	MED8-68	0			c.G875A						.						68	69	69					1																	43850152		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112950	exon8			TTTTTTCCTTCCT	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.*561G>A	1.37:g.43850152C>T		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	128	4	NM_052877	0	0	3	4	1	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.592633	0.00008	.	.	ENSG00000159479	ENST00000290663	.	.	.	0.217	-0.433	0.12287	.	7.968160	0.00166	N	0.000005	T	0.29945	0.0749	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13495	-1.0507	7	0.87932	D	0	.	.	.	.	.	292	Q96G25-2	.	E	292	.	ENSP00000290663:G292E	G	-	2	0	MED8	43622739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.988000	0.01482	-1.916000	0.01075	-1.892000	0.00534	GGA	.		0.502	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		T	43850152	C	T	43850152	1	4	22	0	1	0	0	0	0	0	0	0	9491	855	30	3		3	MED8	1	43850152	3'UTR	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	40911583	43850152	205400469	2	3918											
HRNR	388697	bcgsc.ca	37	chr1	152189029	152189029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgacgggagccagacccAtgctgaccatagcgggaaga	14	11	0	4	rs76438416	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:152189029A>G	ENST00000368801.2	-	3	5151	c.5076T>C	c.(5074-5076)caT>caC	p.H1692H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1692					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)			AGCCAGACCCATGCTGACCAT	0.617																																					p.H1692H		.											.	HRNR-93	0			c.T5076C						.						63	73	69					1																	152189029		1645	3201	4846	SO:0001819	synonymous_variant	388697	exon3			AGACCCATGCTGA	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.5076T>C	1.37:g.152189029A>G		Somatic	575	26		WXS	Illumina GAIIx	Phase_I	399	42	NM_001009931	0	0	7	7	0	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			A|0.993;G|0.007		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152189029	A	G	152189029	2	3	22	1	0	0	0	0	0	0	0	1	7386	214	8	4		4	HRNR	1	152189029	Silent	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	108338877	152189029	97061592	3	3919											
RABGAP1L	9910	broad.mit.edu	37	chr1	174210750	174210750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagagttcccatggttcGgaagaatttcagatacatgt	10	7	1	3	rs144504710		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:174210750G>A	ENST00000251507.4	+	5	846	c.672G>A	c.(670-672)tcG>tcA	p.S224S	RABGAP1L_ENST00000357444.6_Silent_p.S187S|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCCATGGTTCGGAAGAATTTC	0.353													A|||	1	0.000199681	0	0	5008	,	,		16012	0		0.001	False		,,,				2504	0				p.S224S		.											.	RABGAP1L-540	0			c.G672A						.	A		0,4406		0,0,2203	78	76	77		672	4.3	1	1	dbSNP_134	77	9,8591	818.5+/-406.9	0,9,4291	no	coding-synonymous	RABGAP1L	NM_014857.4		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		224/816	174210750	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	9910	exon5			TGGTTCGGAAGAA	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.672G>A	1.37:g.174210750G>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	100	4	NM_014857	0	0	6	6	0	B7ZAA4	Silent	SNP	ENST00000251507.4	37	CCDS1314.1																																																																																			G|0.999;A|0.001		0.353	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		A	174210750	G	A	174210750	2	1	22	1	0	0	0	0	0	0	0	1	13010	1103	39	1		1	RABGAP1L	1	174210750	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	22021721	174210750	75039871	4	3920											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	22	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	4840550	179051300	70199321	5	3921											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	19	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	22	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	49453370	228504670	20745951	6	3922											
ARID4B	51742	broad.mit.edu	37	chr1	235377221	235377221	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttcatgcctggtggataGcactcaaactcctcttcctc	6	14	3	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:235377221G>T	ENST00000264183.3	-	17	2201	c.1704C>A	c.(1702-1704)tgC>tgA	p.C568*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.C568*|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	568				C -> S (in Ref. 4; BAA89794). {ECO:0000305}.	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)			CTGGTGGATAGCACTCAAACT	0.428																																					p.C568X		.											.	ARID4B-228	0			c.C1704A						.						290	278	282					1																	235377221		2203	4300	6503	SO:0001587	stop_gained	51742	exon17			TGGATAGCACTCA	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.1704C>A	1.37:g.235377221G>T	ENSP00000264183:p.Cys568*	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	116	4	NM_016374	0	0	6	6	0	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.734459|5.734459	0.96865|0.96865	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.147363	.|0.64402	.|D	.|0.000005	T|.	0.35711|.	0.0941|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32824|.	-0.9892|.	3|.	.|0.05525	.|T	.|0.97	-5.8813|-5.8813	13.9636|13.9636	0.64196|0.64196	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.	.|.	.|.	.|.	D|X	4|568	.|.	.|ENSP00000264183:C568X	A|C	-|-	2|3	0|2	ARID4B|ARID4B	233443844|233443844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.324000|5.324000	0.65863|0.65863	2.665000|2.665000	0.90641|0.90641	0.650000|0.650000	0.86243|0.86243	GCT|TGC	.		0.428	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235377221	G	T	235377221	4	4	22	1	0	0	0	0	0	1	0	0	920	963	34	3	2266	3	ARID4B	1	235377221	Nonsense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	6872551	235377221	13873400	7	3923											
ZP4	57829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	238048868	238048868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaacaccgtagtaagagCcatagtttttatctgcaaga	7	10	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr1:238048868C>T	ENST00000366570.4	-	8	1141	c.983G>A	c.(982-984)gGc>gAc	p.G328D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	328	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)			GTAGTAAGAGCCATAGTTTTT	0.483																																					p.G328D	NSCLC(166;160 2029 11600 18754 19936)	.											.	ZP4-93	0			c.G983A						.						54	53	54					1																	238048868		2203	4300	6503	SO:0001583	missense	57829	exon8			TAAGAGCCATAGT	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.983G>A	1.37:g.238048868C>T	ENSP00000355529:p.Gly328Asp	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	161	27	NM_021186	0	0	0	0	0	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206890	0.22205	.	.	ENSG00000116996	ENST00000366570	D	0.81739	-1.53	4.95	3.04	0.35103	Zona pellucida sperm-binding protein (3);	1.013960	0.07885	N	0.970119	T	0.80904	0.4713	M	0.66939	2.045	0.09310	N	1	P	0.37276	0.589	P	0.46208	0.507	T	0.63332	-0.6661	10	0.12430	T	0.62	-0.263	6.1484	0.20298	0.3281:0.5835:0.0:0.0884	.	328	Q12836	ZP4_HUMAN	D	328	ENSP00000355529:G328D	ENSP00000355529:G328D	G	-	2	0	ZP4	236115491	0.000000	0.05858	0.049000	0.19019	0.064000	0.16182	-0.677000	0.05215	0.475000	0.27415	0.655000	0.94253	GGC	.		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			T	238048868	C	T	238048868	3	4	22	1	0	0	0	0	1	0	0	0	18266	739	26	3	659	3	ZP4	1	238048868	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	2671647	238048868	11201753	8	3924											
TADA3	10474	broad.mit.edu	37	chr3	9831618	9831618	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaggaatcgtctgtcAcctttcttatcctgccagtc	7	13	4	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:9831618A>C	ENST00000301964.2	-	3	795	c.237T>G	c.(235-237)ggT>ggG	p.G79G	ARPC4_ENST00000287613.7_5'Flank|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000343450.2_Silent_p.G79G|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000440161.1_Silent_p.G79G	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	79					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						ATCGTCTGTCACCTTTCTTAT	0.488																																					p.G79G		.											.	TADA3-226	0			c.T237G						.						48	48	48					3																	9831618		2203	4300	6503	SO:0001819	synonymous_variant	10474	exon3			TCTGTCACCTTTC	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.237T>G	3.37:g.9831618A>C		Somatic	53	5		WXS	Illumina GAIIx	Phase_I	47	5	NM_133480	0	0	91	92	1	Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	CCDS2583.1																																																																																			.		0.488	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			C	9831618	A	C	9831618	2	2	22	1	0	0	0	0	0	0	0	1	15559	146	6	5		5	TADA3	3	9831618	Silent	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10		9831618	188190812	9	3925											
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	77526667	77526667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggggacacccagaacccaCcatctactggaaaaaagaca	8	14	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:77526667C>G	ENST00000461745.1	+	3	1391	c.491C>G	c.(490-492)aCc>aGc	p.T164S	ROBO2_ENST00000332191.8_Missense_Mutation_p.T164S|ROBO2_ENST00000487694.3_Missense_Mutation_p.T180S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	164	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGAACCCACCATCTACTGG	0.458																																					p.T164S		.											.	ROBO2-328	0			c.C491G						.						81	80	80					3																	77526667		1839	4081	5920	SO:0001583	missense	6092	exon3			AACCCACCATCTA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.491C>G	3.37:g.77526667C>G	ENSP00000417164:p.Thr164Ser	Somatic	207	0		WXS	Illumina GAIIx	Phase_I	189	25	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367917	0.61513	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64991	-0.13;-0.13;-0.13	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.146518	0.31031	N	0.008381	T	0.51856	0.1699	N	0.17901	0.54	0.34398	D	0.694940	B;B;B	0.26258	0.103;0.145;0.103	B;B;B	0.34093	0.124;0.076;0.175	T	0.45891	-0.9230	9	0.11182	T	0.66	.	19.9261	0.97102	0.0:1.0:0.0:0.0	.	180;164;164	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	180;180;180;164;164	ENSP00000417335:T180S;ENSP00000417164:T164S;ENSP00000327536:T164S	ENSP00000327536:T164S	T	+	2	0	ROBO2	77609357	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.986000	0.70563	2.789000	0.95967	0.655000	0.94253	ACC	.		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		G	77526667	C	G	77526667	3	3	22	1	0	0	0	0	1	0	0	0	13559	507	18	3	503	3	ROBO2	3	77526667	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	67695049	77526667	120495763	10	3926											
CCDC52	152185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	113187717	113187717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcctggtttggagtcTcttgacagcattggtagcat	12	8	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:113187717T>C	ENST00000295872.4	-	9	1040	c.781A>G	c.(781-783)Aga>Gga	p.R261G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	261					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						GTTTGGAGTCTCTTGACAGCA	0.413																																					p.R261G		.											.	SPICE1-70	0			c.A781G						.						93	83	86					3																	113187717		2203	4300	6503	SO:0001583	missense	152185	exon9			GGAGTCTCTTGAC	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.781A>G	3.37:g.113187717T>C	ENSP00000295872:p.Arg261Gly	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	103	21	NM_144718	0	0	2	3	1	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.609350	0.28623	.	.	ENSG00000163611	ENST00000295872	T	0.42513	0.97	5.05	3.88	0.44766	.	0.152408	0.64402	N	0.000019	T	0.42720	0.1215	M	0.74881	2.28	0.46011	D	0.998819	B;B	0.13594	0.008;0.008	B;B	0.17433	0.018;0.018	T	0.40289	-0.9571	10	0.87932	D	0	-8.2512	8.994	0.36041	0.0:0.0891:0.0:0.9109	.	157;261	B3KX77;Q8N0Z3	.;SPICE_HUMAN	G	261	ENSP00000295872:R261G	ENSP00000295872:R261G	R	-	1	2	SPICE1	114670407	1.000000	0.71417	0.999000	0.59377	0.054000	0.15201	2.407000	0.44565	0.845000	0.35118	0.482000	0.46254	AGA	.		0.413	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		C	113187717	T	C	113187717	3	2	22	1	0	0	0	0	1	0	0	0	2829	1559	54	4	1826	4	CCDC52	3	113187717	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	35661050	113187717	84834713	11	3927											
HCLS1	3059	hgsc.bcm.edu;ucsc.edu	37	chr3	121351315	121351315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctcgggctcaggctcGggctcaggctcaggctctgc	15	14	5	0	rs150627065|rs372720825|rs80289672	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:121351315G>A	ENST00000314583.3	-	12	1195	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	HCLS1_ENST00000428394.2_Silent_p.P331P|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gctcaggctcgggctcaggct	0.607																																					p.P368P		.											.	HCLS1-90	0			c.C1104T	GRCh37	CI045897	HCLS1	I	rs80289672	.						145	140	142					3																	121351315		2203	4300	6503	SO:0001819	synonymous_variant	3059	exon12			AGGCTCGGGCTCA		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1104C>T	3.37:g.121351315G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	42	7	NM_005335	0	0	133	228	95	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																			G|0.936;A|0.064		0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		A	121351315	G	A	121351315	2	1	22	1	0	0	0	0	0	0	0	1	7022	1103	39	1		1	HCLS1	3	121351315	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	8163598	121351315	76671115	12	3928											
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164709159	164709159	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaaaatgtgttttgaGctggctcttgacatggtagg	12	6	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:164709159G>C	ENST00000264382.3	-	44	5152	c.5090C>G	c.(5089-5091)gCt>gGt	p.A1697G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1697	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTGTTTTGAGCTGGCTCTTG	0.368										HNSCC(35;0.089)																											p.A1697G		.											.	SI-104	0			c.C5090G						.						147	136	140					3																	164709159		2203	4300	6503	SO:0001583	missense	6476	exon44			TTTTGAGCTGGCT	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.5090C>G	3.37:g.164709159G>C	ENSP00000264382:p.Ala1697Gly	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	127	28	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365923	0.24684	.	.	ENSG00000090402	ENST00000264382	D	0.89939	-2.59	4.78	1.69	0.24217	.	0.253677	0.39909	N	0.001239	D	0.82545	0.5060	L	0.41961	1.31	0.31385	N	0.678558	B	0.06786	0.001	B	0.15052	0.012	T	0.76719	-0.2856	10	0.37606	T	0.19	.	9.6864	0.40100	0.0:0.1272:0.4832:0.3896	.	1697	P14410	SUIS_HUMAN	G	1697	ENSP00000264382:A1697G	ENSP00000264382:A1697G	A	-	2	0	SI	166191853	0.154000	0.22792	0.339000	0.25562	0.767000	0.43475	0.336000	0.19823	0.554000	0.29061	0.467000	0.42956	GCT	.		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164709159	G	C	164709159	3	2	22	1	0	0	0	0	1	0	0	0	14342	971	34	3	413	3	SI	3	164709159	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	43357844	164709159	33313271	13	3929											
KLHL6	89857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183225850	183225850	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttctactcacctcAttgccagaaaggtggtacat	6	11	5	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr3:183225850A>T	ENST00000341319.3	-	3	941	c.906T>A	c.(904-906)aaT>aaA	p.N302K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	302					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TACTCACCTCATTGCCAGAAA	0.498																																					p.N302K		.											.	KLHL6-93	0			c.T906A						.						76	69	71					3																	183225850		2203	4300	6503	SO:0001583	missense	89857	exon3			CACCTCATTGCCA	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.906T>A	3.37:g.183225850A>T	ENSP00000341342:p.Asn302Lys	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	130	21	NM_130446	0	0	0	0	0	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760890	0.31137	.	.	ENSG00000172578	ENST00000341319	T	0.73575	-0.76	5.24	-1.26	0.09376	.	0.415219	0.29609	N	0.011661	T	0.58991	0.2161	L	0.33485	1.01	0.43761	D	0.996279	B	0.15141	0.012	B	0.16289	0.015	T	0.45160	-0.9280	10	0.29301	T	0.29	.	11.7501	0.51843	0.6084:0.0:0.3916:0.0	.	302	Q8WZ60	KLHL6_HUMAN	K	302	ENSP00000341342:N302K	ENSP00000341342:N302K	N	-	3	2	KLHL6	184708544	0.501000	0.26099	0.998000	0.56505	0.982000	0.71751	-0.079000	0.11357	-0.083000	0.12618	0.533000	0.62120	AAT	.		0.498	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183225850	A	T	183225850	3	4	22	1	0	0	0	0	1	0	0	0	8420	214	8	5	979	5	KLHL6	3	183225850	Missense_Mutation	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	18516691	183225850	14796580	14	3930											
SORCS2	57537	hgsc.bcm.edu	37	chr4	7725585	7725585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacggcaggccacgatgaGgcggtgctctttgtccaggt	14	11	1	1	rs2285779	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:7725585G>A	ENST00000507866.2	+	19	2695	c.2586G>A	c.(2584-2586)gaG>gaA	p.E862E	SORCS2_ENST00000329016.9_Silent_p.E690E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	862	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCACGATGAGGCGGTGCTCT	0.587													G|||	4	0.000798722	0	0	5008	,	,		18522	0.004		0	False		,,,				2504	0				p.E862E		.											.	SORCS2-91	0			c.G2586A						.						47	49	48					4																	7725585		2032	4175	6207	SO:0001819	synonymous_variant	57537	exon19			CGATGAGGCGGTG	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2586G>A	4.37:g.7725585G>A		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	58	12	NM_020777	0	0	0	0	0	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																			T|0.002;C|0.998		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7725585	G	A	7725585	2	1	22	1	0	0	0	0	0	0	0	1	14976	991	35	3		3	SORCS2	4	7725585	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		7725585	183428691	15	3931											
GPR78	27201	hgsc.bcm.edu	37	chr4	8583231	8583231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcgcagccttcaccgcCacgctccatgccgtgggctt	10	18	1	0	rs61741008	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:8583231C>A	ENST00000382487.4	+	1	939	c.522C>A	c.(520-522)gcC>gcA	p.A174A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	174					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCACCGCCACGCTCCATG	0.697													C|||	24	0.00479233	0	0.0043	5008	,	,		16694	0		0.0189	False		,,,				2504	0.002				p.A174A		.											.	GPR78-516	0			c.C522A						.	C		8,4196		0,8,2094	10	11	10		522	-1	0	4	dbSNP_129	10	97,8169		0,97,4036	no	coding-synonymous	GPR78	NM_080819.2		0,105,6130	AA,AC,CC		1.1735,0.1903,0.842		174/364	8583231	105,12365	2102	4133	6235	SO:0001819	synonymous_variant	27201	exon1			CACCGCCACGCTC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.522C>A	4.37:g.8583231C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	10	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			C|0.992;A|0.008		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583231	C	A	8583231	2	1	22	1	0	0	0	0	0	0	0	1	6736	581	21	3		3	GPR78	4	8583231	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	857646	8583231	182571045	16	3932											
TECRL	253017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	65145874	65145874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttatgtttcttttgtgcCcacaaagacatctggatact	6	9	3	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:65145874C>A	ENST00000381210.3	-	12	1118	c.1008G>T	c.(1006-1008)tgG>tgT	p.W336C	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	336					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTTTGTGCCCACAAAGACA	0.244																																					p.W336C		.											.	TECRL-90	0			c.G1008T						.						38	40	40					4																	65145874		2185	4251	6436	SO:0001583	missense	253017	exon12			TTGTGCCCACAAA	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.1008G>T	4.37:g.65145874C>A	ENSP00000370607:p.Trp336Cys	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	46	11	NM_001010874	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387012	0.61956	.	.	ENSG00000205678	ENST00000381210	T	0.29917	1.55	5.09	5.09	0.68999	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65524	-0.6147	10	0.72032	D	0.01	-8.0499	14.3347	0.66581	0.0:1.0:0.0:0.0	.	336	Q5HYJ1	TECRL_HUMAN	C	336	ENSP00000370607:W336C	ENSP00000370607:W336C	W	-	3	0	TECRL	64828469	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.142000	0.64820	2.516000	0.84829	0.650000	0.86243	TGG	.		0.244	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		A	65145874	C	A	65145874	3	1	22	1	0	0	0	0	1	0	0	0	15793	624	22	3	87	3	TECRL	4	65145874	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	56562643	65145874	126008402	17	3933											
SLC4A4	8671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	72319242	72319242	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggactaattaaagacataaaGaggaaagcgccattttttgc	9	6	0	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:72319242G>T	ENST00000264485.5	+	12	1470	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	SLC4A4_ENST00000340595.3_Missense_Mutation_p.K407N|SLC4A4_ENST00000512686.1_Missense_Mutation_p.K407N|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.K451N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K451N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	451					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGACATAAAGAGGAAAGCGC	0.348																																					p.K451N		.											.	SLC4A4-95	0			c.G1353T						.						189	192	191					4																	72319242		2203	4300	6503	SO:0001583	missense	8671	exon12			CATAAAGAGGAAA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1353G>T	4.37:g.72319242G>T	ENSP00000264485:p.Lys451Asn	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	59	24	NM_001098484	0	0	0	0	0	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931460	0.73442	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.03	6.03	0.97812	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.993;0.99;0.976;0.997	D;D;D;P;D;D	0.85130	0.987;0.997;0.927;0.864;0.93;0.981	D	0.93900	0.7187	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	451;451;407;407;431;451	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	N	451;451;451;407;407	ENSP00000264485:K451N;ENSP00000393557:K451N;ENSP00000307349:K451N;ENSP00000422400:K407N;ENSP00000344272:K407N	ENSP00000264485:K451N	K	+	3	2	SLC4A4	72538106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.618000	0.46393	2.861000	0.98227	0.655000	0.94253	AAG	.		0.348	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72319242	G	T	72319242	3	4	22	1	0	0	0	0	1	0	0	0	14701	933	33	3	1516	3	SLC4A4	4	72319242	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	7173368	72319242	118835034	18	3934											
FHDC1	85462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	153889150	153889150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattatctctggagaacacGgaggcagaactgcacttgct	11	9	1	3	rs146044034		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:153889150G>A	ENST00000511601.1	+	10	1307	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	FHDC1_ENST00000260008.3_Silent_p.T373T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	373	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGGAGAACACGGAGGCAGAAC	0.423													G|||	1	0.000199681	0	0	5008	,	,		19784	0.001		0	False		,,,				2504	0				p.T373T		.											.	FHDC1-136	0			c.G1119A						.	G		1,4405	2.1+/-5.4	0,1,2202	179	175	176		1119	-11.7	0.1	4	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	FHDC1	NM_033393.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		373/1144	153889150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85462	exon9			GAACACGGAGGCA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1119G>A	4.37:g.153889150G>A		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	97	24	NM_033393	0	0	0	0	0		Silent	SNP	ENST00000511601.1	37	CCDS34081.1																																																																																			G|1.000;A|0.000		0.423	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		A	153889150	G	A	153889150	2	1	22	1	0	0	0	0	0	0	0	1	5898	1103	39	1		1	FHDC1	4	153889150	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	81569908	153889150	37265126	19	3935											
PALLD	23022	broad.mit.edu	37	chr4	169633067	169633067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccacctctgcttgccaaaCcaaaactgtgagtatttctg	6	13	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr4:169633067C>A	ENST00000505667.1	+	10	2130	c.1957C>A	c.(1957-1959)Cca>Aca	p.P653T	PALLD_ENST00000512127.1_Missense_Mutation_p.P271T|PALLD_ENST00000261509.6_Missense_Mutation_p.P653T|PALLD_ENST00000335742.7_Missense_Mutation_p.P271T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	653	Interaction with LASP1. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTTGCCAAACCAAAACTGTG	0.403									Pancreatic Cancer, Familial Clustering of																												p.P653T	Esophageal Squamous(109;1482 1532 18347 40239 51172)	.											.	PALLD-94	0			c.C1957A						.						58	63	61					4																	169633067		2203	4300	6503	SO:0001583	missense	23022	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GCCAAACCAAAAC	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.1957C>A	4.37:g.169633067C>A	ENSP00000425556:p.Pro653Thr	Somatic	59	1		WXS	Illumina GAIIx	Phase_I	71	3	NM_001166108	0	0	0	0	0	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648056	0.67358	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.79653	-1.29;-0.38;-0.89;-1.18	5.7	4.85	0.62838	.	0.000000	0.31897	U	0.006890	T	0.78534	0.4298	M	0.77313	2.365	0.53005	D	0.999964	B;B;B	0.32653	0.379;0.029;0.379	B;B;B	0.28709	0.093;0.013;0.093	T	0.75548	-0.3279	10	0.12430	T	0.62	.	16.0092	0.80385	0.1356:0.8644:0.0:0.0	.	653;271;653	B7ZMM5;B3KTG2;B2RTX2	.;.;.	T	653;271;653;271	ENSP00000261509:P653T;ENSP00000336735:P271T;ENSP00000425556:P653T;ENSP00000426947:P271T	ENSP00000261509:P653T	P	+	1	0	PALLD	169869642	1.000000	0.71417	0.965000	0.40720	0.736000	0.42039	6.512000	0.73737	1.382000	0.46385	0.655000	0.94253	CCA	.		0.403	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169633067	C	A	169633067	3	1	22	1	0	0	0	0	1	0	0	0	11446	507	18	3	1991	3	PALLD	4	169633067	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	15743917	169633067	21521209	20	3936											
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140554140	140554140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcgccctgcaccgagcCgttgccccgggcggccgagc	14	20	0	0	rs13189280		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr5:140554140C>T	ENST00000231137.3	+	1	1898	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs13189280).		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)			TGCACCGAGCCGTTGCCCCGG	0.701																																					p.P575L		.											.	PCDHB7-95	0			c.C1724T						.						31	41	37					5																	140554140		2151	4236	6387	SO:0001583	missense	56129	exon1			CCGAGCCGTTGCC	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.1724C>T	5.37:g.140554140C>T	ENSP00000231137:p.Pro575Leu	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	43	6	NM_018940	0	0	7	7	0	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.012|0.012	-1.676739|-1.676739	0.00751|0.00751	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.66280|.	-0.2|.	4.3|4.3	3.12|3.12	0.35913|0.35913	Cadherin (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.00186|0.00186	-1.895|-1.895	0.37304|0.37304	D|D	0.908829|0.908829	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23619|0.23619	-1.0183|-1.0183	9|6	0.02654|0.87932	T|D	1|0	.|.	9.8212|9.8212	0.40883|0.40883	0.0:0.0849:0.0:0.9151|0.0:0.0849:0.0:0.9151	rs13189280;rs17844469|rs13189280;rs17844469	575|.	Q9Y5E2|.	PCDB7_HUMAN|.	L|C	575|358	ENSP00000231137:P575L|.	ENSP00000231137:P575L|ENSP00000440828:R358C	P|R	+|+	2|1	0|0	PCDHB7|PCDHB7	140534324|140534324	0.394000|0.394000	0.25246|0.25246	1.000000|1.000000	0.80357|0.80357	0.339000|0.339000	0.28857|0.28857	0.709000|0.709000	0.25734|0.25734	0.605000|0.605000	0.29947|0.29947	-0.637000|-0.637000	0.03976|0.03976	CCG|CGT	C|1.000;|0.000		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554140	C	T	140554140	3	4	22	1	0	0	0	0	1	0	0	0	11586	652	23	1	1726	1	PCDHB7	5	140554140	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		140554140	40361120	21	3937											
SPINK5	11005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	147480929	147480929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttttagccaagcagaagAagaagaaaagaaaaagaagg	10	4	0	6			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr5:147480929A>G	ENST00000256084.7	+	14	1274	c.1232A>G	c.(1231-1233)gAa>gGa	p.E411G	SPINK5_ENST00000398454.1_Missense_Mutation_p.E411G|SPINK5_ENST00000359874.3_Missense_Mutation_p.E411G|SPINK5_ENST00000476608.1_3'UTR	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	411	Kazal-like 6. {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)			CAAGCAGAAGAAGAAGAAAAG	0.328																																					p.E411G		.											.	SPINK5-138	0			c.A1232G						.						91	81	84					5																	147480929		1840	4087	5927	SO:0001583	missense	11005	exon14			CAGAAGAAGAAGA	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.1232A>G	5.37:g.147480929A>G	ENSP00000256084:p.Glu411Gly	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	233	35	NM_001127699	0	0	0	0	0	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737788	0.49045	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	2.52	1.3	0.21679	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.590819	0.14227	N	0.332976	T	0.04998	0.0134	L	0.38531	1.155	0.22330	N	0.9992	B;P;P;P	0.44521	0.242;0.837;0.776;0.735	B;P;P;B	0.45913	0.314;0.458;0.497;0.287	T	0.39396	-0.9616	10	0.20046	T	0.44	-9.3844	5.5958	0.17327	0.7143:0.2857:0.0:0.0	.	392;411;411;411	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	G	411;411;392;411	ENSP00000381472:E411G;ENSP00000352936:E411G;ENSP00000421519:E392G;ENSP00000256084:E411G	ENSP00000256084:E411G	E	+	2	0	SPINK5	147461122	0.959000	0.32827	0.943000	0.38184	0.988000	0.76386	0.806000	0.27126	0.362000	0.24319	0.254000	0.18369	GAA	.		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		G	147480929	A	G	147480929	3	3	22	1	0	0	0	0	1	0	0	0	15109	246	9	4	1286	4	SPINK5	5	147480929	Missense_Mutation	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	6926789	147480929	33434331	22	3938											
CCDC99	54908	bcgsc.ca	37	chr5	169028481	169028481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaaatcagtttctataTacacaccagtagtcagtctc	5	9	4	1	rs3797713	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr5:169028481T>C	ENST00000265295.4	+	11	1801	c.1522T>C	c.(1522-1524)Tac>Cac	p.Y508H		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGTTTCTATATACACACCAGT	0.423													C|||	3289	0.656749	0.5893	0.5965	5008	,	,		19612	0.7331		0.672	False		,,,				2504	0.6963				p.Y508H		.											.	.	0			c.T1522C						.	C	HIS/TYR	2606,1800	529.8+/-372.8	766,1074,363	97	97	97		1522	-7.3	0	5	dbSNP_107	97	5937,2663	428.9+/-356.0	2053,1831,416	yes	missense	CCDC99	NM_017785.4	83	2819,2905,779	CC,CT,TT		30.9651,40.8534,34.3149	benign	508/606	169028481	8543,4463	2203	4300	6503	SO:0001583	missense	54908	exon11			TCTATATACACAC	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1522T>C	5.37:g.169028481T>C	ENSP00000265295:p.Tyr508His	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	147	6	NM_017785	0	0	5	5	0		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	1430	0.6547619047619048	282	0.573170731707317	217	0.5994475138121547	410	0.7167832167832168	521	0.6873350923482849	C	3.767	-0.048465	0.07407	0.591466	0.690349	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.29142	1.58	5.72	-7.3	0.01446	.	1.374820	0.04155	N	0.322065	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33854	-0.9852	9	0.14252	T	0.57	0.2716	1.0777	0.01636	0.1822:0.2729:0.2835:0.2614	rs3797713;rs17856399;rs57787986;rs3797713	430;409;508	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	H	508;409	ENSP00000265295:Y508H	ENSP00000265295:Y508H	Y	+	1	0	CCDC99	168961059	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.235000	0.09016	-1.851000	0.01168	-2.830000	0.00107	TAC	T|0.334;C|0.666		0.423	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		C	169028481	T	C	169028481	3	2	22	1	0	0	0	0	1	0	0	0	2883	1406	49	4	1560	4	CCDC99	5	169028481	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	21547552	169028481	11886779	23	3939											
RREB1	6239	hgsc.bcm.edu	37	chr6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcggcctgggcggggGccacaagggccgcaagccct	18	16	0	0	rs9502564	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000334984.6_Missense_Mutation_p.G783V|RREB1_ENST00000379933.3_Missense_Mutation_p.G783V|RREB1_ENST00000379938.2_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		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)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9	9	9		2348,2348,2348,2348	5.3	1	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	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.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001003700	0	0	0	2	2	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230680	G	T	7230680	3	4	22	1	0	0	0	0	1	0	0	0	13724	1203	42	3	2374	3	RREB1	6	7230680	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		7230680	163884387	24	3940											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51695775	51695775	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attttaaagctgattcagggGcagaggtagaagctagaaaa	12	4	1	4			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr6:51695775G>C	ENST00000371117.3	-	52	8461	c.8186C>G	c.(8185-8187)gCc>gGc	p.A2729G	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2729G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2729					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)					TGATTCAGGGGCAGAGGTAGA	0.398																																					p.A2729G		.											.	PKHD1-603	0			c.C8186G						.						66	62	63					6																	51695775		2203	4300	6503	SO:0001583	missense	5314	exon52			TCAGGGGCAGAGG	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.8186C>G	6.37:g.51695775G>C	ENSP00000360158:p.Ala2729Gly	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	38	25	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685906	0.14973	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.04;-2.24	5.32	-4.85	0.03142	.	1.121610	0.06613	N	0.756050	T	0.59676	0.2211	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31125	0.309;0.288;0.272	B;B;B	0.32211	0.073;0.142;0.049	T	0.55823	-0.8080	10	0.37606	T	0.19	.	5.1411	0.14959	0.459:0.0:0.2374:0.3036	.	2729;2729;2729	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	G	2729	ENSP00000360158:A2729G;ENSP00000341097:A2729G	ENSP00000341097:A2729G	A	-	2	0	PKHD1	51803734	0.147000	0.22687	0.014000	0.15608	0.896000	0.52359	-0.440000	0.06888	-1.000000	0.03438	0.655000	0.94253	GCC	.		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51695775	G	C	51695775	3	2	22	1	0	0	0	0	1	0	0	0	12010	1203	42	3	4141	3	PKHD1	6	51695775	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	44465095	51695775	119419292	25	3941											
MAP7	9053	hgsc.bcm.edu	37	chr6	136682172	136682172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctctgcctcctcccGctcgcgcagcgcccgctcct	11	22	1	0	rs2076190	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr6:136682172G>A	ENST00000354570.3	-	12	2082	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	MAP7_ENST00000438100.2_Missense_Mutation_p.R543W|MAP7_ENST00000432797.2_Missense_Mutation_p.R412W|MAP7_ENST00000454590.1_Missense_Mutation_p.R580W|MAP7_ENST00000544465.1_Missense_Mutation_p.R543W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	558			R -> W (in dbSNP:rs2076190). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCCTCCTCCCGCTCGCGCAGC	0.761													G|||	3864	0.771565	0.7156	0.8026	5008	,	,		9294	0.6736		0.8459	False		,,,				2504	0.8497				p.R588W		.											.	MAP7-90	0			c.C1762T						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	3211,1131		1187,837,147	7	8	8		1738,1762,1627,1738,1627,1561,1390,1234,1234,1672	2.8	1	6	dbSNP_96	8	7130,1264		3035,1060,102	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	101,101,101,101,101,101,101,101,101,101	4222,1897,249	AA,AG,GG		15.0584,26.0479,18.805	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	580/772,588/780,543/735,580/772,543/735,521/713,464/656,412/604,412/604,558/750	136682172	10341,2395	2171	4197	6368	SO:0001583	missense	9053	exon12			CCTCCCGCTCGCG	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1672C>T	6.37:g.136682172G>A	ENSP00000346581:p.Arg558Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	14	NM_001198609	1	0	0	5	4	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	1644	0.7527472527472527	337	0.6849593495934959	282	0.7790055248618785	382	0.6678321678321678	643	0.8482849604221636	G	14.45	2.539239	0.45176	0.739521	0.849416	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.89	2.78	0.32641	.	0.296091	0.22491	N	0.059376	T	0.35189	0.0923	M	0.82517	2.595	0.26264	P	0.9785292	D;D;D;D;D;D	0.76494	0.995;0.994;0.995;0.999;0.998;0.998	P;P;P;P;P;P	0.60886	0.751;0.636;0.751;0.809;0.809;0.88	T	0.38779	-0.9645	9	0.52906	T	0.07	-5.3629	10.9226	0.47174	0.0:0.0:0.3457:0.6543	rs2076190;rs2230172;rs6928528	543;543;580;464;521;558	B7Z290;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;MAP7_HUMAN	W	558;580;543;543;412;464	ENSP00000346581:R558W;ENSP00000414712:R580W;ENSP00000445737:R543W;ENSP00000400790:R543W;ENSP00000414879:R412W	ENSP00000344217:R464W	R	-	1	2	MAP7	136723865	0.441000	0.25626	0.960000	0.40013	0.620000	0.37586	1.543000	0.36147	0.988000	0.38734	0.555000	0.69702	CGG	G|0.243;A|0.757		0.761	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		A	136682172	G	A	136682172	3	1	22	1	0	0	0	0	1	0	0	0	9304	1086	38	1	605	1	MAP7	6	136682172	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	84986397	136682172	34432895	26	3942											
GARS	2617	hgsc.bcm.edu	37	chr7	30634548	30634548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggctcatgccctctcCgcgtccagtgctgcttagag	11	16	2	1	rs62636572	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr7:30634548C>T	ENST00000389266.3	+	1	252	c.11C>T	c.(10-12)cCg>cTg	p.P4L	AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	4					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)	ATGCCCTCTCCGCGTCCAGTG	0.711													C|||	42	0.00838658	0	0.0245	5008	,	,		14101	0		0.0239	False		,,,				2504	0.001				p.P4L		.											.	GARS-91	0			c.C11T						.	C	LEU/PRO	10,3978		0,10,1984	7	8	8		11	-1.4	0	7	dbSNP_129	8	113,8037		0,113,3962	yes	missense	GARS	NM_002047.2	98	0,123,5946	TT,TC,CC		1.3865,0.2508,1.0133	benign	4/740	30634548	123,12015	1994	4075	6069	SO:0001583	missense	2617	exon1			CCTCTCCGCGTCC	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.11C>T	7.37:g.30634548C>T	ENSP00000373918:p.Pro4Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	10	NM_002047	0	0	3	9	6	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	29	0.013278388278388278	0	0.0	11	0.03038674033149171	0	0.0	18	0.023746701846965697	C	0.026	-1.372300	0.01214	0.002508	0.013865	ENSG00000106105	ENST00000389266	T	0.80566	-1.39	3.33	-1.39	0.08997	.	0.647368	0.15500	N	0.259091	T	0.29817	0.0745	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.10377	T	0.69	0.9595	7.0049	0.24830	0.0:0.4002:0.0:0.5998	rs62636572	4	P41250	SYG_HUMAN	L	4	ENSP00000373918:P4L	ENSP00000373918:P4L	P	+	2	0	GARS	30601073	0.000000	0.05858	0.011000	0.14972	0.317000	0.28152	-0.624000	0.05540	-0.325000	0.08577	-0.133000	0.14855	CCG	C|0.986;T|0.014		0.711	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		T	30634548	C	T	30634548	3	4	22	1	0	0	0	0	1	0	0	0	6267	652	23	1	13	1	GARS	7	30634548	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		30634548	128504115	27	3943											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_002047	0	0	0	37	37	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	22	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	113	30634661	128504002	28	3944											
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	33388714	33388714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgatattgcaaaaagCcaaattatcagtctacgtgc	8	8	2	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr7:33388714C>A	ENST00000242067.6	+	13	1885	c.1364C>A	c.(1363-1365)gCc>gAc	p.A455D	BBS9_ENST00000354265.4_Missense_Mutation_p.A455D|BBS9_ENST00000396127.2_Missense_Mutation_p.A455D|BBS9_ENST00000355070.2_Missense_Mutation_p.A455D|BBS9_ENST00000350941.3_Missense_Mutation_p.A455D	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	455			A -> T (in dbSNP:rs11773504).|A -> V (in dbSNP:rs11773504).		cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTGCAAAAAGCCAAATTATCA	0.333									Bardet-Biedl syndrome																												p.A455D		.											.	BBS9-230	0			c.C1364A						.						183	162	169					7																	33388714		2203	4300	6503	SO:0001583	missense	27241	exon13	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAAAAGCCAAATT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1364C>A	7.37:g.33388714C>A	ENSP00000242067:p.Ala455Asp	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	109	21	NM_014451	0	0	0	0	0	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.771|8.771	0.925902|0.925902	0.18056|0.18056	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775|ENST00000434373	T;T;T;T;T|.	0.59638|.	2.54;0.28;0.25;2.54;2.54|.	5.41|5.41	-1.89|-1.89	0.07689|0.07689	.|.	0.669759|.	0.14809|.	N|.	0.297157|.	T|T	0.32102|0.32102	0.0818|0.0818	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25486|.	0.127;0.127;0.127;0.127|.	B;B;B;B|.	0.33339|.	0.081;0.162;0.081;0.162|.	T|T	0.33085|0.33085	-0.9882|-0.9882	10|5	0.14656|.	T|.	0.56|.	-0.0118|-0.0118	11.3088|11.3088	0.49351|0.49351	0.0:0.3427:0.0:0.6573|0.0:0.3427:0.0:0.6573	.|.	455;455;455;455|.	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;PTHB1_HUMAN|.	D|R	455;455;455;455;455;455;455;333|21	ENSP00000242067:A455D;ENSP00000313122:A455D;ENSP00000379433:A455D;ENSP00000347182:A455D;ENSP00000346214:A455D|.	ENSP00000242067:A455D|.	A|S	+|+	2|3	0|2	BBS9|BBS9	33355239|33355239	0.887000|0.887000	0.30362|0.30362	0.929000|0.929000	0.37066|0.37066	0.213000|0.213000	0.24496|0.24496	0.053000|0.053000	0.14184|0.14184	-0.479000|-0.479000	0.06813|0.06813	-0.224000|-0.224000	0.12420|0.12420	GCC|AGC	.		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			A	33388714	C	A	33388714	3	1	22	1	0	0	0	0	1	0	0	0	1343	739	26	3	1410	3	BBS9	7	33388714	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	2754053	33388714	125749949	29	3945											
ATP6V0E2	155066	hgsc.bcm.edu	37	chr7	149571095	149571095	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccggctggggacccGcgcacctgcagcgcccgctg	15	19	0	0	rs79377053	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr7:149571095G>A	ENST00000464662.1	+	0	14				ATP6V0E2_ENST00000479613.1_5'UTR|ATP6V0E2_ENST00000606024.1_5'UTR|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.A30T|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000425642.2_5'Flank			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTGGGGACCCGCGCACCTGCA	0.716													G|||	682	0.136182	0.3994	0.049	5008	,	,		12396	0.0526		0.0368	False		,,,				2504	0.0307				p.A30T		.											.	.	0			c.G88A						.	G	THR/ALA,THR/ALA	991,2511		116,759,876	4	6	5		88,88	1.7	0	7	dbSNP_132	5	266,6746		7,252,3247	no	missense,missense	ATP6V0E2	NM_001100592.1,NM_145230.2	58,58	123,1011,4123	AA,AG,GG		3.7935,28.2981,11.9555	probably-damaging,probably-damaging	30/214,30/131	149571095	1257,9257	1751	3506	5257	SO:0001623	5_prime_UTR_variant	155066	exon1			GGACCCGCGCACC	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000464662.1:c.-60G>A	7.37:g.149571095G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	17	NM_001100592	0	0	3	10	7	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000464662.1	37		283	0.1295787545787546	188	0.3821138211382114	21	0.058011049723756904	42	0.07342657342657342	32	0.04221635883905013	G	14.56	2.570645	0.45798	0.282981	0.037935	ENSG00000171130	ENST00000421974;ENST00000456496	.	.	.	2.57	1.67	0.24075	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.43550	P	0.004141999999999979	P	0.40638	0.725	B	0.27608	0.081	T	0.43988	-0.9357	7	0.87932	D	0	.	7.3999	0.26958	0.0:0.2709:0.7291:0.0	.	30	E9PAS2	.	T	30	.	ENSP00000411672:A30T	A	+	1	0	ATP6V0E2	149202028	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.103000	0.15292	0.651000	0.30788	0.563000	0.77884	GCG	G|0.870;A|0.130		0.716	ATP6V0E2-007	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350177.2	NM_145230		A	149571095	G	A	149571095	1	1	22	0	1	0	0	0	0	0	0	0	1177	1087	38	1		1	ATP6V0E2	7	149571095	5'UTR	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	116182381	149571095	9567568	30	3946											
EN2	2020	hgsc.bcm.edu	37	chr7	155251183	155251183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggtagcagcccGggcgaagcggacaccgggcg	21	13	0	0	rs77846527	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr7:155251183G>A	ENST00000297375.4	+	1	360	c.111G>A	c.(109-111)ccG>ccA	p.P37P	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	37					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gtagcagcCCGGGCGAAGCGG	0.751													g|||	520	0.103834	0.1407	0.0663	5008	,	,		6800	0.0208		0.1113	False		,,,				2504	0.1585				p.P37P		.											.	EN2-90	0			c.G111A						.						2	3	2					7																	155251183		1497	3024	4521	SO:0001819	synonymous_variant	2020	exon1			CAGCCCGGGCGAA		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.111G>A	7.37:g.155251183G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_001427	0	0	0	0	0	A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	CCDS5940.1																																																																																			G|0.911;A|0.089		0.751	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		A	155251183	G	A	155251183	2	1	22	1	0	0	0	0	0	0	0	1	5126	1103	39	1		1	EN2	7	155251183	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	5680088	155251183	3887480	31	3947											
CSMD1	64478	broad.mit.edu	37	chr8	3889601	3889601	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggatttctccaggatttcCacaagtgtggctaggtaaaa	10	8	1	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr8:3889601C>A	ENST00000520002.1	-	4	991	c.436G>T	c.(436-438)Gga>Tga	p.G146*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G146*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G146*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G146*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G146*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G146*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G146*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	146	Sushi 1. {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)		CCAGGATTTCCACAAGTGTGG	0.408																																					p.G146X		.											.	CSMD1-86	0			c.G436T						.						77	79	78					8																	3889601		1942	4149	6091	SO:0001587	stop_gained	64478	exon4			GATTTCCACAAGT			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.436G>T	8.37:g.3889601C>A	ENSP00000430733:p.Gly146*	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	63	10	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	38	7.079076	0.98048	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.52	5.52	0.82312	.	0.000000	0.46442	U	0.000287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.4147	0.90565	0.0:1.0:0.0:0.0	.	.	.	.	X	146;146;8;146;146;146	.	ENSP00000320445:G8X	G	-	1	0	CSMD1	3877009	1.000000	0.71417	0.981000	0.43875	0.369000	0.29798	7.558000	0.82253	2.612000	0.88384	0.655000	0.94253	GGA	.		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3889601	C	A	3889601	4	1	22	1	0	0	0	0	0	1	0	0	3953	603	21	3	10339	3	CSMD1	8	3889601	Nonsense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		3889601	142474421	32	3948											
CRH	1392	hgsc.bcm.edu	37	chr8	67089425	67089425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcggctgccgctgccTccggcgaggagcgaggaggc	20	12	0	0	rs6159	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr8:67089425T>G	ENST00000276571.3	-	2	734	c.288A>C	c.(286-288)ggA>ggC	p.G96G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	96					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCCGCTGCCTCCGGCGAGGA	0.701											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1938	0.386981	0.7557	0.3646	5008	,	,		12753	0.3433		0.1392	False		,,,				2504	0.2045				p.G96G		.											.	CRH-90	0			c.A288C						.	G		1011,1897		182,647,625	2	3	3		288	-2.7	0	8	dbSNP_52	3	578,6556		47,484,3036	no	coding-synonymous	CRH	NM_000756.2		229,1131,3661	GG,GT,TT		8.102,34.7662,15.8235		96/197	67089425	1589,8453	1454	3567	5021	SO:0001819	synonymous_variant	1392	exon2			GCTGCCTCCGGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.288A>C	8.37:g.67089425T>G		Somatic	1	0	1096	WXS	Illumina GAIIx	Phase_I	25	8	NM_000756	0	0	0	0	0	B3KQS4	Silent	SNP	ENST00000276571.3	37	CCDS6188.1																																																																																			T|0.642;G|0.358		0.701	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		G	67089425	T	G	67089425	2	3	22	1	0	0	0	0	0	0	0	1	3876	1538	54	5		5	CRH	8	67089425	Silent	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	63199824	67089425	79274597	33	3949											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	22	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	77289443	144378868	1985154	34	3950											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000345136.3_Silent_p.L1184L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_201380	0	0	0	6	6	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	22	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	622916	145001784	1362238	35	3951											
CEP78	84131	broad.mit.edu	37	chr9	80851434	80851434	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcggggtggactgggcGcctctgctgagcaccctcaa	14	15	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr9:80851434G>T	ENST00000424347.2	+	1	457	c.168G>T	c.(166-168)gcG>gcT	p.A56A	CEP78_ENST00000376597.4_Silent_p.A56A|CEP78_ENST00000415759.2_Silent_p.A56A|CEP78_ENST00000376598.2_Silent_p.A56A|CEP78_ENST00000277082.5_Silent_p.A56A			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	56					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TGGACTGGGCGCCTCTGCTGA	0.657																																					p.A56A		.											.	CEP78-69	0			c.G168T						.						20	23	22					9																	80851434		1925	4119	6044	SO:0001819	synonymous_variant	84131	exon1			CTGGGCGCCTCTG	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.168G>T	9.37:g.80851434G>T		Somatic	27	1		WXS	Illumina GAIIx	Phase_I	52	6	NM_001098802	0	0	0	0	0	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37																																																																																				.		0.657	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		T	80851434	G	T	80851434	2	4	22	1	0	0	0	0	0	0	0	1	3269	1074	38	2		2	CEP78	9	80851434	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		80851434	60361997	36	3952											
IDI1	22884	hgsc.bcm.edu	37	chr10	1094906	1094906	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgcccccgggccgcgCagccaatcgctcgcgccagc	13	22	0	0	rs7091756	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr10:1094906C>T	ENST00000358220.1	+	0	0				IDI1_ENST00000491735.1_5'UTR|IDI1_ENST00000381344.3_Missense_Mutation_p.C13Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37											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)		ccgggccgcgcAGCCAATCGC	0.721													C|||	154	0.0307508	0.0038	0.0317	5008	,	,		13577	0		0.0368	False		,,,				2504	0.092				p.C13Y		.											.	IDI1-90	0			c.G38A						.	C	TYR/CYS	42,3924		1,40,1942	4	6	5		38	-3.5	0	10	dbSNP_116	5	362,7338		7,348,3495	no	missense	IDI1	NM_004508.2	194	8,388,5437	TT,TC,CC		4.7013,1.059,3.4631	benign	13/285	1094906	404,11262	1983	3850	5833	SO:0001631	upstream_gene_variant	3422	exon1			GCCGCGCAGCCAA	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		10.37:g.1094906C>T	Exception_encountered	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_004508	0	0	0	3	3	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	45	0.020604395604395604	5	0.01016260162601626	9	0.024861878453038673	0	0.0	31	0.040897097625329816	C	0.031	-1.335823	0.01287	0.01059	0.047013	ENSG00000067064	ENST00000381344	.	.	.	1.77	-3.54	0.04653	.	3.373570	0.01792	U	0.032349	T	0.01940	0.0061	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	8	0.02654	T	1	.	4.1354	0.10169	0.0:0.2425:0.3482:0.4093	rs7091756;rs7091756	13	Q13907-2	.	Y	13	.	ENSP00000370748:C13Y	C	-	2	0	IDI1	1084906	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.721000	0.01870	-1.854000	0.01163	-0.350000	0.07774	TGC	C|0.981;T|0.019		0.721	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		T	1094906	C	T	1094906	1	4	22	0	1	0	0	0	0	0	0	0	7526	710	25	3		3	IDI1	10	1094906	5'Flank	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		1094906	134439841	37	3953											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	67	11	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	22	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10		1253980	133752536	38	3954											
NRXN2	9379	broad.mit.edu;bcgsc.ca	37	chr11	64428611	64428611	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactattcactgagatggagCctgggaatcaagggaaggca	14	7	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr11:64428611C>A	ENST00000377551.1	-	9	2010	c.1799G>T	c.(1798-1800)gGc>gTc	p.G600V	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Splice_Site_p.G569V|NRXN2_ENST00000265459.6_Splice_Site_p.G600V|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Splice_Site_p.G593V			Q9P2S2	NRX2A_HUMAN	neurexin 2	600	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGATGGAGCCTGGGAATCA	0.597																																					p.G600V		.											.	NRXN2-232	0			c.G1799T						.						26	30	28					11																	64428611		2198	4296	6494	SO:0001630	splice_region_variant	9379	exon10			ATGGAGCCTGGGA		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1799-1G>T	11.37:g.64428611C>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	35	8	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377931	0.82682	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.8	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000570	D	0.83087	0.5178	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;P;D	0.97110	1.0;0.884;0.994	D	0.84799	0.0783	10	0.87932	D	0	.	15.3943	0.74778	0.0:1.0:0.0:0.0	.	569;600;346	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	600;569;600;569;593	ENSP00000366774:G600V;ENSP00000366782:G569V;ENSP00000265459:G600V;ENSP00000386416:G593V	ENSP00000265459:G600V	G	-	2	0	NRXN2	64185187	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.772000	0.68889	2.496000	0.84212	0.555000	0.69702	GGC	.		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	Missense_Mutation	A	64428611	C	A	64428611	5	1	22	1	0	0	0	0	0	0	1	0	10705	753	26	3	3664	3	NRXN2	11	64428611	Splice_Site	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	63174631	64428611	70577905	39	3955											
SLCO1A2	6579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	21445134	21445134	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccaggtatggcagccaaaGaataaatgaaactgctcatc	8	9	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr12:21445134G>T	ENST00000307378.6	-	13	2294	c.1574C>A	c.(1573-1575)tCt>tAt	p.S525Y	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S523Y|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S525Y|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S393Y|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S393Y	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	525					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S525Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GGCAGCCAAAGAATAAATGAA	0.378																																					p.S525Y		.											.	SLCO1A2-157	1	Substitution - Missense(1)	large_intestine(1)	c.C1574A						.						35	35	35					12																	21445134		2203	4300	6503	SO:0001583	missense	6579	exon13			GCCAAAGAATAAA		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1574C>A	12.37:g.21445134G>T	ENSP00000305974:p.Ser525Tyr	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	51	16	NM_134431	0	0	0	0	0	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183382	0.78677	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;1.01	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.300687	0.37261	N	0.002177	T	0.81702	0.4878	M	0.92555	3.32	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.85969	0.1475	10	0.72032	D	0.01	.	16.8549	0.86003	0.0:0.0:1.0:0.0	.	523;525	P46721-2;P46721	.;SO1A2_HUMAN	Y	525;525;393;393;523	ENSP00000305974:S525Y;ENSP00000393973:S525Y;ENSP00000394854:S393Y;ENSP00000439401:S393Y;ENSP00000375088:S523Y	ENSP00000305974:S525Y	S	-	2	0	SLCO1A2	21336401	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.336000	0.79245	2.646000	0.89796	0.563000	0.77884	TCT	.		0.378	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		T	21445134	G	T	21445134	3	4	22	1	0	0	0	0	1	0	0	0	14767	942	33	3	454	3	SLCO1A2	12	21445134	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		21445134	112406761	40	3956											
HNRNPA1	3178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54676958	54676958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcagtggctatggcGggagtggcagctatgacagc	17	9	0	1	rs375259222		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr12:54676958G>A	ENST00000340913.6	+	8	900	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	HNRNPA1_ENST00000547276.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000330752.8_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	283	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGCTATGGCGGGAGTGGCAG	0.562																																					p.G283R	Colon(83;502 1289 8436 16406 24870)	.											.	HNRNPA1-93	0			c.G847A						.						41	56	51					12																	54676958		2015	4156	6171	SO:0001583	missense	3178	exon8			TATGGCGGGAGTG	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.847G>A	12.37:g.54676958G>A	ENSP00000341826:p.Gly283Arg	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	97	36	NM_031157	0	0	17	26	9	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518781	0.64634	.	.	ENSG00000135486	ENST00000340913	D	0.86769	-2.17	3.73	3.73	0.42828	.	.	.	.	.	D	0.89181	0.6642	M	0.72624	2.21	0.80722	D	1	D	0.63880	0.993	P	0.55011	0.766	D	0.86186	0.1609	9	0.14656	T	0.56	.	13.8264	0.63352	0.0:0.0:1.0:0.0	.	283	P09651	ROA1_HUMAN	R	283	ENSP00000341826:G283R	ENSP00000341826:G283R	G	+	1	0	HNRNPA1	52963225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.291000	0.78721	2.382000	0.81193	0.455000	0.32223	GGG	.		0.562	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		A	54676958	G	A	54676958	3	1	22	1	0	0	0	0	1	0	0	0	7284	1116	39	1	877	1	HNRNPA1	12	54676958	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	33231824	54676958	79174937	41	3957											
CLN5	1203	hgsc.bcm.edu	37	chr13	77566090	77566090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcggggaggtgtcatgCgccggaacctgcgcttgggg	21	10	1	0	rs77416795	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr13:77566090C>T	ENST00000377453.3	+	1	1296	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AGGTGTCATGCGCCGGAACCT	0.706													C|||	698	0.139377	0.1293	0.2608	5008	,	,		12735	0.1071		0.0994	False		,,,				2504	0.1411				p.R2C		.											.	CLN5-91	0			c.C4T						.	C	CYS/ARG	400,3146		17,366,1390	3	4	3		4	2.1	0	13	dbSNP_131	3	731,6513		40,651,2931	yes	missense	CLN5	NM_006493.2	180	57,1017,4321	TT,TC,CC		10.0911,11.2803,10.4819		2/408	77566090	1131,9659	1773	3622	5395	SO:0001583	missense	1203	exon1			GTCATGCGCCGGA		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.4C>T	13.37:g.77566090C>T	ENSP00000366673:p.Arg2Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_006493	0	0	0	0	0	B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	275	0.1259157509157509	67	0.13617886178861788	74	0.20441988950276244	58	0.10139860139860139	76	0.10026385224274406	C	14.02	2.409456	0.42715	0.112803	0.100911	ENSG00000102805	ENST00000377453	T	0.35605	1.3	3.0	2.13	0.27403	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.13845	-1.0494	5	0.87932	D	0	.	3.9634	0.09421	0.2315:0.6377:0.0:0.1308	.	.	.	.	C	2	ENSP00000366673:R2C	ENSP00000366673:R2C	R	+	1	0	CLN5	76464091	0.002000	0.14202	0.006000	0.13384	0.017000	0.09413	0.035000	0.13797	0.794000	0.33899	0.462000	0.41574	CGC	C|0.873;T|0.127		0.706	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		T	77566090	C	T	77566090	3	4	22	1	0	0	0	0	1	0	0	0	3551	768	27	1	6	1	CLN5	13	77566090	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		77566090	37603788	42	3958											
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493647	77493647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcgctgttccaccgcAgcggcggcggcggcggcggc	19	16	0	0	rs61991619|rs371633333	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr14:77493647A>G	ENST00000238647.3	-	1	1387	c.489T>C	c.(487-489)gcT>gcC	p.A163A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	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)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcgg	0.746													A|||	835	0.166733	0.1059	0.2651	5008	,	,		5410	0.1012		0.2435	False		,,,				2504	0.1677				p.A163A		.											.	IRF2BPL-90	1	Deletion - In frame(1)	prostate(1)	c.T489C						.	A		127,3983		4,119,1932	5	6	6		489	-2.5	0.4	14	dbSNP_129	6	755,7295		112,531,3382	no	coding-synonymous	IRF2BPL	NM_024496.2		116,650,5314	GG,GA,AA		9.3789,3.09,7.2533		163/797	77493647	882,11278	2055	4025	6080	SO:0001819	synonymous_variant	64207	exon1			CACCGCAGCGGCG	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.489T>C	14.37:g.77493647A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_024496	0	0	0	0	0	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			A|0.819;G|0.181		0.746	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		G	77493647	A	G	77493647	2	3	22	1	0	0	0	0	0	0	0	1	1778	175	7	4		4	C14orf4	14	77493647	Silent	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10		77493647	29855893	43	3959											
MAPKBP1	23005	bcgsc.ca	37	chr15	42115152	42115152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagggaaccatccccatcCtcctcaagcctggcactgat	8	15	1	1	rs61729966	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr15:42115152C>T	ENST00000456763.2	+	29	3544	c.3348C>T	c.(3346-3348)tcC>tcT	p.S1116S	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.S993S|MAPKBP1_ENST00000260357.7_Silent_p.S949S|MAPKBP1_ENST00000514566.1_Silent_p.S1110S|MAPKBP1_ENST00000457542.2_Silent_p.S1110S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1116	Poly-Ser.									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)		CATCCCCATCCTCCTCAAGCC	0.607													c|||	9	0.00179712	8e-04	0.0029	5008	,	,		20234	0		0.006	False		,,,				2504	0				p.S1116S		.											.	MAPKBP1-589	0			c.C3348T						.	C	,	6,4400		0,6,2197	98	90	93		3348,3330	0.4	0.7	15	dbSNP_129	93	52,8548		0,52,4248	no	coding-synonymous,coding-synonymous	MAPKBP1	NM_001128608.1,NM_014994.2	,	0,58,6445	TT,TC,CC		0.6047,0.1362,0.4459	,	1116/1515,1110/1509	42115152	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	23005	exon29			CCCATCCTCCTCA	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.3348C>T	15.37:g.42115152C>T		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_001128608	0	0	5	5	0	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	CCDS45239.1																																																																																			C|0.995;T|0.005		0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42115152	C	T	42115152	2	4	22	1	0	0	0	0	0	0	0	1	9330	668	24	3		3	MAPKBP1	15	42115152	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		42115152	60416240	44	3960											
HAGH	3029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	1872357	1872357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgtgctttctcgccgcGtccacgacctgcagtggccc	10	19	1	0	rs115850237		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:1872357G>T	ENST00000397356.3	-	3	664	c.258C>A	c.(256-258)gaC>gaA	p.D86E	HAGH_ENST00000566709.1_Missense_Mutation_p.D38E|HAGH_ENST00000455446.2_Missense_Mutation_p.D86E|HAGH_ENST00000397353.2_Missense_Mutation_p.D38E	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	86					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTCTCGCCGCGTCCACGACCT	0.632																																					p.D86E	Pancreas(55;1048 1176 25227 40124 41333)	.											.	HAGH-91	0			c.C258A						.						114	82	93					16																	1872357		2199	4300	6499	SO:0001583	missense	3029	exon3			CGCCGCGTCCACG	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.258C>A	16.37:g.1872357G>T	ENSP00000380514:p.Asp86Glu	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	38	10	NM_005326	0	0	0	0	0	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819724	0.02776	.	.	ENSG00000063854	ENST00000455446;ENST00000397356;ENST00000397353	D;D;D	0.95447	-3.71;-3.71;-3.71	5.23	-5.08	0.02929	Beta-lactamase-like (2);	0.216148	0.49305	N	0.000147	T	0.80385	0.4613	N	0.05534	-0.03	0.22581	N	0.998966	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.0;0.0;0.0	T	0.76868	-0.2800	10	0.02654	T	1	-7.288	1.6016	0.02675	0.1878:0.2951:0.3245:0.1926	.	86;86;38;86	E7EN93;B4DT01;Q16775-2;Q16775	.;.;.;GLO2_HUMAN	E	86;86;38	ENSP00000406552:D86E;ENSP00000380514:D86E;ENSP00000380511:D38E	ENSP00000380511:D38E	D	-	3	2	HAGH	1812358	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.620000	0.02046	-1.035000	0.03291	-0.834000	0.03071	GAC	G|1.000;A|0.000		0.632	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		T	1872357	G	T	1872357	3	4	22	1	0	0	0	0	1	0	0	0	6972	1136	40	2	696	2	HAGH	16	1872357	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		1872357	88482396	45	3961											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_178167	0	0	0	5	5	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	22	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	187317	2059674	88295079	46	3962											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	22	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	1244899	3304573	87050180	47	3963											
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	21042562	21042562	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccccatcgtgatagccttGgggttgatgatcttgtactc	11	10	1	3			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:21042562G>C	ENST00000261383.3	-	37	5243	c.5244C>G	c.(5242-5244)ccC>ccG	p.P1748P	DNAH3_ENST00000415178.1_Silent_p.P1748P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1748	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATAGCCTTGGGGTTGATGA	0.517																																					p.P1748P		.											.	DNAH3-167	0			c.C5244G						.						132	102	112					16																	21042562		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon37			AGCCTTGGGGTTG	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.5244C>G	16.37:g.21042562G>C		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	112	20	NM_017539	0	0	0	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																			.		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21042562	G	C	21042562	2	2	22	1	0	0	0	0	0	0	0	1	4617	1335	47	3		3	DNAH3	16	21042562	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	17737989	21042562	69312191	48	3964											
FHOD1	29109	hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	67268118	67268118	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacagggggcagggctctgGggtgttctggctgcaggggc	20	9	2	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:67268118G>C	ENST00000258201.4	-	13	1735	c.1488C>G	c.(1486-1488)ccC>ccG	p.P496P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	496	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGGGCTCTGGGGTGTTCTGG	0.642																																					p.P496P		.											.	FHOD1-221	0			c.C1488G						.						34	42	39					16																	67268118		2198	4299	6497	SO:0001819	synonymous_variant	29109	exon13			GCTCTGGGGTGTT	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1488C>G	16.37:g.67268118G>C		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	15	8	NM_013241	0	0	6	6	0	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	CCDS10834.1																																																																																			.		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			C	67268118	G	C	67268118	2	2	22	1	0	0	0	0	0	0	0	1	5904	1219	43	3		3	FHOD1	16	67268118	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	46225556	67268118	23086635	49	3965											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	22	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5JV-01A-11D-A29I-10	21331579	88599697	1755056	50	3966											
MINK1	1145	hgsc.bcm.edu	37	chr17	4799079	4799079	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtggagaagaagcagGgctggaccaccgtgggggac	18	8	0	3			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:4799079G>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.G1086C|MINK1_ENST00000355280.6_Missense_Mutation_p.G1106C|MINK1_ENST00000347992.7_Missense_Mutation_p.G1077C	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)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAAGAAGCAGGGCTGGACCAC	0.557																																					p.G1106C		.											.	MINK1-943	0			c.G3316T						.						42	48	46					17																	4799079		1991	4157	6148	SO:0001628	intergenic_variant	50488	exon27			AAGCAGGGCTGGA	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.4799079G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	70	5	NM_153827	0	0	62	62	0	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617334	0.87359	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.04970	3.52;3.52;3.52	4.87	4.87	0.63330	Citron-like (3);	0.058459	0.64402	D	0.000002	T	0.29028	0.0721	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.998;0.999	T	0.04216	-1.0968	10	0.87932	D	0	.	15.5409	0.76048	0.0:0.0:1.0:0.0	.	1069;1086;1106;1077	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	C	1106;1086;1077;66	ENSP00000347427:G1106C;ENSP00000406487:G1086C;ENSP00000269296:G1077C	ENSP00000269296:G1077C	G	+	1	0	MINK1	4739855	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.657000	0.98554	2.531000	0.85337	0.591000	0.81541	GGC	.		0.557	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			T	4799079	G	T	4799079	1	4	22	0	1	0	0	0	0	0	0	0	9625	1232	43	3		3	MINK1	17	4799079	IGR	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		4799079	76396131	51	3967											
SOX15	6665	hgsc.bcm.edu	37	chr17	7492611	7492611	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcgggaaggtccggcGcccgagctcttggccttgcg	16	15	1	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:7492611G>T	ENST00000250055.2	-	1	877	c.384C>A	c.(382-384)ggC>ggA	p.G128G	SOX15_ENST00000570788.1_Silent_p.G128G|SOX15_ENST00000538513.2_Silent_p.G128G|FXR2_ENST00000573057.1_5'Flank|MPDU1_ENST00000423172.2_Intron	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	128					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						AAGGTCCGGCGCCCGAGCTCT	0.721											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G128G		.											.	SOX15-135	0			c.C384A						.						9	10	10					17																	7492611		2190	4263	6453	SO:0001819	synonymous_variant	6665	exon1			TCCGGCGCCCGAG	AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.384C>A	17.37:g.7492611G>T		Somatic	5	0	642	WXS	Illumina GAIIx	Phase_I	67	4	NM_006942	0	0	0	0	0	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Silent	SNP	ENST00000250055.2	37	CCDS32549.1																																																																																			.		0.721	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440757.1	NM_006942		T	7492611	G	T	7492611	2	4	22	1	0	0	0	0	0	0	0	1	14991	1074	38	2		2	SOX15	17	7492611	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	2693532	7492611	73702599	52	3968											
CD300LG	146894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	41930365	41930365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaaagctcagcaaacCcagcccccaggattgagtga	10	12	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:41930365C>T	ENST00000317310.4	+	3	506	c.465C>T	c.(463-465)acC>acT	p.T155T	CD300LG_ENST00000539718.1_Silent_p.T155T|CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000293396.8_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	155					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCAGCAAACCCAGCCCCCAG	0.582																																					p.T155T		.											.	CD300LG-90	0			c.C465T						.						135	125	128					17																	41930365		2203	4300	6503	SO:0001819	synonymous_variant	146894	exon3			GCAAACCCAGCCC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.465C>T	17.37:g.41930365C>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	79	15	NM_145273	0	0	0	0	0	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Silent	SNP	ENST00000317310.4	37	CCDS11470.1																																																																																			.		0.582	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		T	41930365	C	T	41930365	2	4	22	1	0	0	0	0	0	0	0	1	3009	610	22	3		3	CD300LG	17	41930365	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	34437754	41930365	39264845	53	3969											
QRICH2	84074	bcgsc.ca	37	chr17	74288472	74288472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaggttgtgccaaaccaTgctgatccactccaggttgg	10	13	0	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:74288472T>C	ENST00000262765.5	-	4	2017	c.1838A>G	c.(1837-1839)cAt>cGt	p.H613R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	613	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCCAAACCATGCTGATCCAC	0.537																																					p.H613R		.											.	QRICH2-94	0			c.A1838G						.						154	127	136					17																	74288472		2203	4300	6503	SO:0001583	missense	84074	exon4			AAACCATGCTGAT	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1838A>G	17.37:g.74288472T>C	ENSP00000262765:p.His613Arg	Somatic	241	5		WXS	Illumina GAIIx	Phase_I	218	15	NM_032134	0	0	0	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	N	0.026	-1.373471	0.01214	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.20881	2.04	4.92	-9.83	0.00482	.	.	.	.	.	T	0.06645	0.0170	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.70328	-0.4902	9	0.23302	T	0.38	5.7062	9.5631	0.39383	0.05:0.3282:0.1059:0.5158	.	613;613	B5MD94;Q9H0J4	.;QRIC2_HUMAN	R	613	ENSP00000262765:H613R	ENSP00000262765:H613R	H	-	2	0	QRICH2	71800067	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.501000	0.00011	-9.456000	0.00000	-5.076000	0.00001	CAT	.		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		C	74288472	T	C	74288472	3	2	22	1	0	0	0	0	1	0	0	0	12925	1464	51	4	3217	4	QRICH2	17	74288472	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	32358107	74288472	6906738	54	3970			1	15		2	2	37	T		8.721469e-05
QRICH2	84074	bcgsc.ca	37	chr17	74288508	74288508	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttggaccaaaccatgctgaTctgcaccaggttggaccaaa	10	11	1	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:74288508T>A	ENST00000262765.5	-	4	1981	c.1802A>T	c.(1801-1803)gAt>gTt	p.D601V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	601	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACCATGCTGATCTGCACCAGG	0.537																																					p.D601V		.											.	QRICH2-94	0			c.A1802T						.						168	134	145					17																	74288508		2203	4300	6503	SO:0001583	missense	84074	exon4			TGCTGATCTGCAC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1802A>T	17.37:g.74288508T>A	ENSP00000262765:p.Asp601Val	Somatic	253	5		WXS	Illumina GAIIx	Phase_I	222	16	NM_032134	0	0	1	1	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	8.120	0.780708	0.16120	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.21734	1.99	4.82	-9.63	0.00544	.	.	.	.	.	T	0.06735	0.0172	N	0.16478	0.41	0.09310	N	1	P;B	0.37276	0.589;0.138	B;B	0.33454	0.164;0.033	T	0.14200	-1.0481	9	0.18710	T	0.47	0.7097	1.6345	0.02739	0.4588:0.2138:0.0952:0.2322	.	601;601	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	601	ENSP00000262765:D601V	ENSP00000262765:D601V	D	-	2	0	QRICH2	71800103	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.623000	0.00059	-2.309000	0.00651	-0.444000	0.05651	GAT	.		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74288508	T	A	74288508	3	1	22	1	0	0	0	0	1	0	0	0	12925	1435	50	5	3253	5	QRICH2	17	74288508	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	36	74288508	6906702	55	3971			1	15		2	2	37	T		8.721469e-05
NPTX1	4884	hgsc.bcm.edu	37	chr17	78449948	78449948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcccgcccgggcctcgCcggctccggggtccagcgtg	16	20	0	0	rs144443274	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr17:78449948C>T	ENST00000306773.4	-	1	456	c.299G>A	c.(298-300)gGc>gAc	p.G100D	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	100					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ccgggcctcgccggcTCCGGG	0.721													C|||	393	0.0784744	0.0091	0.098	5008	,	,		6949	0.0238		0.173	False		,,,				2504	0.1176				p.G100D		.											.	NPTX1-90	0			c.G299A						.	C	ASP/GLY	146,4108		4,138,1985	11	15	14		299	2.1	1	17	dbSNP_134	14	1445,6809		128,1189,2810	no	missense	NPTX1	NM_002522.3	94	132,1327,4795	TT,TC,CC		17.5067,3.4321,12.7199	benign	100/433	78449948	1591,10917	2127	4127	6254	SO:0001583	missense	4884	exon1			GCCTCGCCGGCTC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.299G>A	17.37:g.78449948C>T	ENSP00000307549:p.Gly100Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_002522	0	0	0	0	0	B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	196	0.08974358974358974	6	0.012195121951219513	42	0.11602209944751381	10	0.017482517482517484	138	0.1820580474934037	C	14.35	2.508706	0.44660	0.034321	0.175067	ENSG00000171246	ENST00000306773	T	0.10382	2.88	3.44	2.11	0.27256	.	0.738536	0.13049	N	0.417861	T	0.00012	0.0000	N	0.14661	0.345	0.34958	P	0.24807100000000004	P	0.43287	0.802	B	0.35413	0.202	T	0.37174	-0.9717	9	0.15066	T	0.55	-13.6643	4.112	0.10063	0.0:0.5355:0.2155:0.249	.	100	Q15818	NPTX1_HUMAN	D	100	ENSP00000307549:G100D	ENSP00000307549:G100D	G	-	2	0	NPTX1	76064543	0.996000	0.38824	0.994000	0.49952	0.971000	0.66376	1.864000	0.39469	1.482000	0.48325	0.484000	0.47621	GGC	C|0.910;T|0.090		0.721	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78449948	C	T	78449948	3	4	22	1	0	0	0	0	1	0	0	0	10641	739	26	3	1019	3	NPTX1	17	78449948	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	4161440	78449948	2745262	56	3972											
RNF125	54941	hgsc.bcm.edu	37	chr18	29598847	29598847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctccgtgctgagcacCgacagcggcaaatcggcgcc	14	14	0	1	rs34097443	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr18:29598847C>T	ENST00000217740.3	+	1	513	c.21C>T	c.(19-21)acC>acT	p.T7T	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	7					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGCTGAGCACCGACAGCGGCA	0.692													C|||	329	0.0656949	0.0182	0.049	5008	,	,		11663	0.2361		0.0129	False		,,,				2504	0.0204				p.T7T		.											.	RNF125-226	0			c.C21T						.	C		73,4317		2,69,2124	13	14	14		21	3	1	18	dbSNP_126	14	144,8438		1,142,4148	no	coding-synonymous	RNF125	NM_017831.3		3,211,6272	TT,TC,CC		1.6779,1.6629,1.6728		7/233	29598847	217,12755	2195	4291	6486	SO:0001819	synonymous_variant	54941	exon1			GAGCACCGACAGC	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.21C>T	18.37:g.29598847C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	82	30	NM_017831	0	0	2	3	1	Q9NX39	Silent	SNP	ENST00000217740.3	37	CCDS11902.1																																																																																			C|0.955;T|0.045		0.692	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		T	29598847	C	T	29598847	2	4	22	1	0	0	0	0	0	0	0	1	13479	639	23	1		1	RNF125	18	29598847	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		29598847	48478401	57	3973											
POLRMT	5442	broad.mit.edu	37	chr19	629898	629898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgcctggtcagcGccttgaactccccgctctgg	12	17	2	1	rs527922669		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:629898G>A	ENST00000588649.2	-	3	548	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	155					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTCAGCGCCTTGAACTC	0.652													G|||	1	0.000199681	0	0	5008	,	,		17814	0		0.001	False		,,,				2504	0				p.A155V		.											.	POLRMT-92	0			c.C464T						.						18	18	18					19																	629898		2201	4292	6493	SO:0001583	missense	5442	exon3			GTCAGCGCCTTGA		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.464C>T	19.37:g.629898G>A	ENSP00000465759:p.Ala155Val	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	82	13	NM_005035	0	0	4	9	5	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	A	2.595	-0.294238	0.05568	.	.	ENSG00000099821	ENST00000215591	T	0.45668	0.89	3.29	-6.58	0.01836	.	3.921250	0.00855	N	0.001865	T	0.19644	0.0472	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	10	0.23302	T	0.38	0.2577	1.4375	0.02346	0.1656:0.2207:0.3427:0.271	.	155	O00411	RPOM_HUMAN	V	155	ENSP00000215591:A155V	ENSP00000215591:A155V	A	-	2	0	POLRMT	580898	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.875000	0.04205	-3.226000	0.00210	-1.456000	0.01031	GCG	.		0.652	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	629898	G	A	629898	3	1	22	1	0	0	0	0	1	0	0	0	12277	1087	38	1	3304	1	POLRMT	19	629898	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		629898	58499085	58	3974											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9068139	9068139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcggattttgtcaggCcagcaaaagtagaaagcatg	10	7	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:9068139C>A	ENST00000397910.4	-	3	19510	c.19307G>T	c.(19306-19308)gGc>gTc	p.G6436V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6438	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.G6436D(1)|p.G2069D(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						TTTTGTCAGGCCAGCAAAAGT	0.507																																					p.G6436V		.											.	MUC16-566	2	Substitution - Missense(2)	lung(2)	c.G19307T						.						269	262	264					19																	9068139		2000	4167	6167	SO:0001583	missense	94025	exon3			GTCAGGCCAGCAA	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.19307G>T	19.37:g.9068139C>A	ENSP00000381008:p.Gly6436Val	Somatic	199	1		WXS	Illumina GAIIx	Phase_I	225	59	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.146	-1.097138	0.01843	.	.	ENSG00000181143	ENST00000397910	T	0.03580	3.88	2.15	-4.3	0.03710	.	.	.	.	.	T	0.01765	0.0056	N	0.04508	-0.205	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	8	0.87932	D	0	.	5.6093	0.17396	0.3513:0.4268:0.2219:0.0	.	6436	B5ME49	.	V	6436	ENSP00000381008:G6436V	ENSP00000381008:G6436V	G	-	2	0	MUC16	8929139	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.460000	0.00120	-3.240000	0.00207	-1.716000	0.00709	GGC	.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9068139	C	A	9068139	3	1	22	1	0	0	0	0	1	0	0	0	10011	739	26	3	24544	3	MUC16	19	9068139	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	8438241	9068139	50060844	59	3975											
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558367	11558367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaggaagaagaggctgaaga	23	1	0	4			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000252455.2_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000587327.1_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																					p.E321E		.											.	PRKCSH-90	1	Deletion - In frame(1)	central_nervous_system(1)	c.G963A						.						28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAGGAA		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.963G>A	19.37:g.11558367G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	86	7	NM_001001329	0	0	69	69	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	22	1	0	0	0	0	0	0	0	1	12558	991	35	3		3	PRKCSH	19	11558367	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	2490228	11558367	47570616	60	3976											
LPHN1	22859	broad.mit.edu;bcgsc.ca	37	chr19	14288434	14288434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatcttgtcgtccgtgcGcccgtagttggcattctcca	10	13	2	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:14288434G>A	ENST00000340736.6	-	3	490	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R65C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	65	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCGTCCGTGCGCCCGTAGTTG	0.607																																					p.R65C		.											.	LPHN1-523	0			c.C193T						.						144	112	123					19																	14288434		2203	4300	6503	SO:0001583	missense	22859	exon3			CCGTGCGCCCGTA	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.193C>T	19.37:g.14288434G>A	ENSP00000340688:p.Arg65Cys	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	114	5	NM_001008701	0	0	7	7	0	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095100	0.94197	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.22945	1.93;1.93	5.01	5.01	0.66863	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79940	-0.1591	10	0.87932	D	0	.	15.7972	0.78420	0.0:0.0:1.0:0.0	.	65;65	O94910-2;O94910	.;LPHN1_HUMAN	C	65	ENSP00000340688:R65C;ENSP00000355328:R65C	ENSP00000340688:R65C	R	-	1	0	LPHN1	14149434	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.519000	0.73768	2.324000	0.78689	0.591000	0.81541	CGC	.		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14288434	G	A	14288434	3	1	22	1	0	0	0	0	1	0	0	0	8950	1087	38	1	4319	1	LPHN1	19	14288434	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	2730067	14288434	44840549	61	3977											
ZNF493	284443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	21607539	21607539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaaaaatgtggcaaaaCtttctaccgattctcaaacc	6	9	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:21607539C>T	ENST00000355504.4	+	2	1960	c.1694C>T	c.(1693-1695)aCt>aTt	p.T565I	ZNF493_ENST00000392288.2_Missense_Mutation_p.T693I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCAAAACTTTCTACCGA	0.348																																					p.T693I		.											.	ZNF493-516	0			c.C2078T						.						33	36	35					19																	21607539		2202	4297	6499	SO:0001583	missense	284443	exon4			GCAAAACTTTCTA	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1694C>T	19.37:g.21607539C>T	ENSP00000347691:p.Thr565Ile	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	71	7	NM_001076678	0	0	3	7	4	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	6.870	0.529837	0.13127	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.20881	2.04;2.04	1.05	-0.842	0.10748	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.42581	1.335	0.09310	N	0.999998	P;B	0.36577	0.558;0.206	B;B	0.32090	0.14;0.053	T	0.25641	-1.0126	9	0.66056	D	0.02	.	2.5551	0.04758	0.3107:0.3788:0.3105:0.0	.	565;693	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	693;565	ENSP00000376110:T693I;ENSP00000347691:T565I	ENSP00000347691:T565I	T	+	2	0	ZNF493	21399379	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.040000	0.12104	0.452000	0.26830	0.460000	0.39030	ACT	.		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		T	21607539	C	T	21607539	3	4	22	1	0	0	0	0	1	0	0	0	17992	565	20	3	2155	3	ZNF493	19	21607539	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	7319105	21607539	37521444	62	3978											
ARHGAP33	115703	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	36275213	36275213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctccgccggcctcgacCctgcaggtatgccctcccac	8	21	1	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:36275213C>A	ENST00000007510.4	+	16	1705	c.1561C>A	c.(1561-1563)Cct>Act	p.P521T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P521T|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P385T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	521					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGGCCTCGACCCTGCAGGTAT	0.677																																					p.P521T		.											.	ARHGAP33-229	0			c.C1561A						.						202	163	176					19																	36275213		2203	4300	6503	SO:0001583	missense	115703	exon16			CTCGACCCTGCAG	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1561C>A	19.37:g.36275213C>A	ENSP00000007510:p.Pro521Thr	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	88	9	NM_052948	0	0	0	1	1	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	9.443	1.088675	0.20390	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11495	3.1;2.77;3.15	4.9	3.86	0.44501	.	0.426306	0.21561	N	0.072580	T	0.03739	0.0106	N	0.08118	0	0.30297	N	0.789815	B;B;P	0.36837	0.016;0.056;0.571	B;B;B	0.30251	0.024;0.113;0.111	T	0.12993	-1.0526	10	0.29301	T	0.29	.	3.3163	0.07034	0.1777:0.5557:0.1718:0.0948	.	521;385;521	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	521;521;385	ENSP00000007510:P521T;ENSP00000320038:P521T;ENSP00000368227:P385T	ENSP00000007510:P521T	P	+	1	0	ARHGAP33	40967053	0.001000	0.12720	1.000000	0.80357	0.279000	0.26890	0.179000	0.16840	2.262000	0.75019	0.457000	0.33378	CCT	.		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		A	36275213	C	A	36275213	3	1	22	1	0	0	0	0	1	0	0	0	882	623	22	3	1623	3	ARHGAP33	19	36275213	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	14667674	36275213	22853770	63	3979											
LILRB1	10859	bcgsc.ca	37	chr19	55143452	55143452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactcaggagggaatgtaaTcctccagtgtgactcacagg	12	9	2	1	rs1061680	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:55143452T>C	ENST00000396331.1	+	6	782	c.425T>C	c.(424-426)aTc>aCc	p.I142T	LILRB1_ENST00000418536.2_Missense_Mutation_p.I142T|LILRB1_ENST00000427581.2_Missense_Mutation_p.I178T|LILRB1_ENST00000396332.4_Missense_Mutation_p.I142T|LILRB1_ENST00000396315.1_Missense_Mutation_p.I142T|LILRB1_ENST00000448689.1_Missense_Mutation_p.I142T|LILRB1_ENST00000396327.3_Missense_Mutation_p.I142T|LILRB1_ENST00000434867.2_Missense_Mutation_p.I142T|LILRB1_ENST00000324602.7_Missense_Mutation_p.I142T|LILRB1_ENST00000396321.2_Missense_Mutation_p.I142T|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Missense_Mutation_p.I142T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	142	Ig-like C2-type 2.		I -> T (in dbSNP:rs1061680). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20600445, ECO:0000269|PubMed:9285411}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGAATGTAATCCTCCAGTGT	0.552										HNSCC(37;0.09)			N|||	2190	0.4373	0.6059	0.4553	5008	,	,		18519	0.5942		0.2465	False		,,,				2504	0.2311				p.I142T		.											.	LILRB1-137	0			c.T425C						.	C	THR/ILE,THR/ILE,THR/ILE,THR/ILE	2467,1939	549.6+/-377.8	694,1079,430	104	101	102		425,425,425,425	-0.6	0	19	dbSNP_86	102	2380,6220	700.8+/-405.2	323,1734,2243	yes	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	89,89,89,89	1017,2813,2673	CC,CT,TT		27.6744,44.0082,37.2674	benign,benign,benign,benign	142/653,142/652,142/652,142/651	55143452	4847,8159	2203	4300	6503	SO:0001583	missense	10859	exon5			ATGTAATCCTCCA	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.425T>C	19.37:g.55143452T>C	ENSP00000379622:p.Ile142Thr	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	120	8	NM_001081637	0	0	5	5	0	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	998	0.45695970695970695	313	0.6361788617886179	153	0.42265193370165743	339	0.5926573426573427	193	0.2546174142480211	C	0.004	-2.258264	0.00265	0.559918	0.276744	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48	1.9	-0.625	0.11548	Immunoglobulin-like fold (1);	0.000000	0.56097	N	0.000039	T	0.00012	0.0000	N	0.00082	-2.215	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.13124	-1.0521	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.4992:0.0:0.5008	rs1061680;rs3202770;rs17845472;rs17858351;rs58070294;rs1061680	142;142;142;142;142	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	142;142;142;142;142;142;142;142;178;142;142	ENSP00000379614:I142T;ENSP00000391514:I142T;ENSP00000409968:I142T;ENSP00000379622:I142T;ENSP00000379618:I142T;ENSP00000315997:I142T;ENSP00000405243:I142T;ENSP00000379623:I142T;ENSP00000395004:I178T;ENSP00000379610:I142T;ENSP00000379608:I142T	ENSP00000315997:I142T	I	+	2	0	LILRB1	59835264	0.330000	0.24705	0.001000	0.08648	0.002000	0.02628	0.437000	0.21543	-0.405000	0.07599	-1.160000	0.01791	ATC	T|0.567;C|0.433		0.552	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			C	55143452	T	C	55143452	3	2	22	1	0	0	0	0	1	0	0	0	8819	1435	50	4	439	4	LILRB1	19	55143452	Missense_Mutation	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	18868239	55143452	3985531	64	3980											
ZNF154	7710	broad.mit.edu	37	chr19	58213468	58213468	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgagactggaatgataTgtaaaaaacttcccacattc	6	7	0	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr19:58213468T>G	ENST00000512439.2	-	3	1045	c.849A>C	c.(847-849)acA>acC	p.T283T	ZNF154_ENST00000426889.1_Silent_p.T283T|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		TGGAATGATATGTAAAAAACT	0.463																																					p.T283T		.											.	ZNF154-90	0			c.A849C						.						80	84	83					19																	58213468		2200	4298	6498	SO:0001819	synonymous_variant	7710	exon3			ATGATATGTAAAA	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.849A>C	19.37:g.58213468T>G		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	57	3	NM_001085384	0	0	0	0	0	A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	CCDS42639.1																																																																																			.		0.463	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			G	58213468	T	G	58213468	2	3	22	1	0	0	0	0	0	0	0	1	17783	1451	51	5		5	ZNF154	19	58213468	Silent	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10	3070016	58213468	915515	65	3981											
KIF16B	55614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	16253901	16253901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatcacccctggctctaCcccgtcccgtggctgctgta	8	19	2	0			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr20:16253901C>T	ENST00000354981.2	-	26	4108	c.3951G>A	c.(3949-3951)ggG>ggA	p.G1317G	KIF16B_ENST00000355755.3_Silent_p.G1287G|KIF16B_ENST00000378003.2_Silent_p.G502G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1317					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTGGCTCTACCCCGTCCCGT	0.557																																					p.G1317G		.											.	KIF16B-291	0			c.G3951A						.						100	95	97					20																	16253901		2203	4300	6503	SO:0001819	synonymous_variant	55614	exon26			GCTCTACCCCGTC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3951G>A	20.37:g.16253901C>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	123	34	NM_024704	0	0	3	5	2	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																			.		0.557	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		T	16253901	C	T	16253901	2	4	22	1	0	0	0	0	0	0	0	1	8305	494	18	3		3	KIF16B	20	16253901	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10		16253901	46771619	66	3982											
MYBL2	4605	broad.mit.edu	37	chr20	42343869	42343869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttgcaggccaagccCgagaaggcagcagtggccca	14	13	1	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr20:42343869C>T	ENST00000217026.4	+	13	2047	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	MYBL2_ENST00000396863.4_Silent_p.P616P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	640					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.P640P(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)			AGGCCAAGCCCGAGAAGGCAG	0.597																																					p.P640P		.											.	MYBL2-415	1	Substitution - coding silent(1)	lung(1)	c.C1920T						.						142	150	147					20																	42343869		2203	4300	6503	SO:0001819	synonymous_variant	4605	exon13			CAAGCCCGAGAAG		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.1920C>T	20.37:g.42343869C>T		Somatic	148	2		WXS	Illumina GAIIx	Phase_I	198	5	NM_002466	0	0	1	1	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	CCDS13322.1																																																																																			.		0.597	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42343869	C	T	42343869	2	4	22	1	0	0	0	0	0	0	0	1	10048	639	23	1		1	MYBL2	20	42343869	Silent	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	26089968	42343869	20681651	67	3983											
APCDD1L	164284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcgcacctcgcaccccGagctgacccaccagccgccc	10	22	0	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																					p.S287L		.											.	APCDD1L-227	0			c.C860T						.						10	10	10					20																	57036492		2164	4254	6418	SO:0001583	missense	164284	exon4			CACCCCGAGCTGA	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>T	20.37:g.57036492G>A	ENSP00000360191:p.Ser287Leu	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	170	23	NM_153360	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG	.		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		A	57036492	G	A	57036492	3	1	22	1	0	0	0	0	1	0	0	0	766	1059	37	1	649	1	APCDD1L	20	57036492	Missense_Mutation	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	14692623	57036492	5989028	68	3984											
CABLES2	81928	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	60966395	60966395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagcgcacagcttgcggttCtgtttgctgagcttgccctg	12	13	1	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr20:60966395C>A	ENST00000279101.5	-	9	1214	c.1206G>T	c.(1204-1206)caG>caT	p.Q402H		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	402					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCTTGCGGTTCTGTTTGCTGA	0.637																																					p.Q402H		.											.	CABLES2-91	0			c.G1206T						.						95	96	96					20																	60966395		2203	4300	6503	SO:0001583	missense	81928	exon9			GCGGTTCTGTTTG	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1206G>T	20.37:g.60966395C>A	ENSP00000279101:p.Gln402His	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	120	20	NM_031215	0	0	7	11	4	Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	CCDS33503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055376|3.055376	0.55325|0.55325	.|.	.|.	ENSG00000149679|ENSG00000149679	ENST00000370560;ENST00000279101|ENST00000453274	T|.	0.16457|.	2.34|.	5.56|5.56	4.62|4.62	0.57501|0.57501	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.39566|0.39566	1.225|1.225	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.20459|.	0.045|.	B|.	0.27076|.	0.076|.	T|T	0.54840|0.54840	-0.8233|-0.8233	10|5	0.46703|.	T|.	0.11|.	-42.2625|-42.2625	14.4078|14.4078	0.67093|0.67093	0.0:0.9285:0.0:0.0714|0.0:0.9285:0.0:0.0714	.|.	402|.	Q9BTV7|.	CABL2_HUMAN|.	H|I	190;402|196	ENSP00000279101:Q402H|.	ENSP00000279101:Q402H|.	Q|R	-|-	3|2	2|0	CABLES2|CABLES2	60399790|60399790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.927000|1.927000	0.40094|0.40094	1.353000|1.353000	0.45828|0.45828	0.561000|0.561000	0.74099|0.74099	CAG|AGA	.		0.637	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		A	60966395	C	A	60966395	3	1	22	1	0	0	0	0	1	0	0	0	2537	912	32	3	238	3	CABLES2	20	60966395	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	3929903	60966395	2059125	69	3985											
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61537287	61537287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagtcttttctggctttaCtgcattgtaattgtgatcgc	9	8	2	1			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr20:61537287C>G	ENST00000266070.4	-	6	1865	c.1540G>C	c.(1540-1542)Gta>Cta	p.V514L	DIDO1_ENST00000266071.5_Missense_Mutation_p.V514L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V514L|DIDO1_ENST00000370371.4_Missense_Mutation_p.V514L|DIDO1_ENST00000370366.1_Missense_Mutation_p.V514L|DIDO1_ENST00000354665.4_Missense_Mutation_p.V514L|DIDO1_ENST00000395335.2_Missense_Mutation_p.V514L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V514L|DIDO1_ENST00000370368.1_Missense_Mutation_p.V514L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	514					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)					TCTGGCTTTACTGCATTGTAA	0.557																																					p.V514L	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G1540C						.						165	151	156					20																	61537287		2203	4300	6503	SO:0001583	missense	11083	exon6			GCTTTACTGCATT	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.1540G>C	20.37:g.61537287C>G	ENSP00000266070:p.Val514Leu	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	87	27	NM_080797	0	0	12	18	6	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	.	.	.	.	.	.	.	.	.	.	.	29.5	5.014235	0.93404	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.39056	2.36;2.36;2.02;2.02;1.1;1.1;1.1;1.14;1.14	5.95	5.95	0.96441	.	0.000000	0.36034	U	0.002834	T	0.67804	0.2932	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;0.994	D;D;D;D	0.83275	0.961;0.961;0.996;0.978	T	0.67654	-0.5615	10	0.62326	D	0.03	-27.6846	20.3932	0.98965	0.0:1.0:0.0:0.0	.	514;514;514;514	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	L	514	ENSP00000266070:V514L;ENSP00000378752:V514L;ENSP00000378749:V514L;ENSP00000378744:V514L;ENSP00000359397:V514L;ENSP00000359394:V514L;ENSP00000346692:V514L;ENSP00000359391:V514L;ENSP00000266071:V514L	ENSP00000266070:V514L	V	-	1	0	DIDO1	61007732	1.000000	0.71417	0.664000	0.29753	0.749000	0.42624	5.664000	0.68045	2.824000	0.97209	0.655000	0.94253	GTA	.		0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		G	61537287	C	G	61537287	3	3	22	1	0	0	0	0	1	0	0	0	4536	565	20	3	5356	3	DIDO1	20	61537287	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	570892	61537287	1488233	70	3986											
MN1	4330	broad.mit.edu	37	chr22	28194900	28194900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgctgctgctgctgTtgctgttgctgttgctgctg	14	11	0	0	rs202212250|rs530519178	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0	5008	,	,		12597	0		0	False		,,,				2504	0.002				p.Q544Q		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.A1632G						.																																			SO:0001819	synonymous_variant	4330	exon1			CTGCTGTTGCTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632A>G	22.37:g.28194900T>C		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	21	5	NM_002430	0	1	3	173	169	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																			.		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	22	1	0	0	0	0	0	0	0	1	9711	1722	60	4		4	MN1	22	28194900	Silent	SNP	T	TCGA-OR-A5JV-01A-11D-A29I-10		28194900	23109666	71	3987											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	22	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5JV-01A-11D-A29I-10	9927562	38122462	13182104	72	3988											
ZNF630	57232	ucsc.edu	37	chrX	47918424	47918424	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaggtgtgacttctgGgaaaaggccttcccacagtc	12	11	1	2			TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chrX:47918424G>T	ENST00000409324.3	-	5	1633	c.1407C>A	c.(1405-1407)tcC>tcA	p.S469S	ZNF630_ENST00000276054.4_Silent_p.S345S|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.S455S	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTGACTTCTGGGAAAAGGCCT	0.428																																					p.S469S		.											.	ZNF630-131	0			c.C1407A						.						67	66	66					X																	47918424		2195	4288	6483	SO:0001819	synonymous_variant	57232	exon5			CTTCTGGGAAAAG	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.1407C>A	X.37:g.47918424G>T		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_001037735	0	0	6	6	0	F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	CCDS35237.2																																																																																			.		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		T	47918424	G	T	47918424	2	4	22	1	0	0	0	0	0	0	0	1	18102	1219	43	3		3	ZNF630	23	47918424	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10		47918424	107352136	73	3989											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	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)	.											.	NUDT10-90	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		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	129	6	NM_153183	0	0	1	4	3	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	22	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-OR-A5JV-01A-11D-A29I-10	3157600	51076024	104194536	74	3990											
RBMX	27316	ucsc.edu	37	chrX	135961560	135961560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaagcccaccaatgaagagCtttcctgggcgatctgcttc	9	12	1	2	rs80321628		TCGA-OR-A5JV-01A-11D-A29I-10	TCGA-OR-A5JV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	242948fe-72e8-4487-b3b0-139297360446	b7c4c670-624d-4278-a166-779e9c35cb9e	g.chrX:135961560C>G	ENST00000320676.7	-	2	181	c.27G>C	c.(25-27)aaG>aaC	p.K9N	RBMX_ENST00000431446.3_Missense_Mutation_p.K9N|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.K9N	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	9	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.K9N(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)					CAATGAAGAGCTTTCCTGGGC	0.413																																					p.K9N		.											.	RBMX-131	1	Substitution - Missense(1)	pancreas(1)	c.G27C						.						109	103	105					X																	135961560		2203	4300	6503	SO:0001583	missense	27316	exon2			GAAGAGCTTTCCT		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.27G>C	X.37:g.135961560C>G	ENSP00000359645:p.Lys9Asn	Somatic	73	5		WXS	Illumina GAIIx	Phase_I	133	22	NM_001164803	0	0	106	106	0	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	19.30	3.801463	0.70682	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.89050	-2.46;-2.46	4.66	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.88507	0.6455	L	0.56340	1.77	0.09310	P	0.9999999999999992	P;B;P	0.46656	0.882;0.278;0.868	P;B;B	0.50270	0.636;0.142;0.311	D	0.91729	0.5395	9	0.72032	D	0.01	.	8.8627	0.35267	0.0:0.7507:0.0:0.2493	.	9;9;9	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	N	9	ENSP00000411989:K9N;ENSP00000359645:K9N	ENSP00000359645:K9N	K	-	3	2	RBMX	135789226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.970000	0.29383	1.905000	0.55150	0.508000	0.49915	AAG	.		0.413	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		G	135961560	C	G	135961560	3	3	22	1	0	0	0	0	1	0	0	0	13196	796	28	3	1235	3	RBMX	23	135961560	Missense_Mutation	SNP	C	TCGA-OR-A5JV-01A-11D-A29I-10	84885536	135961560	19309000	75	3991											
SPRR2F	6705	broad.mit.edu	37	chr1	153085135	153085135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcgggggtggacatggCtctgggcactttggcgcggg	18	10	1	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr1:153085135C>T	ENST00000468739.1	-	2	135	c.75G>A	c.(73-75)gaG>gaA	p.E25E	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	25	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGACATGGCTCTGGGCACT	0.597																																					p.E25E		.											.	SPRR2F-68	0			c.G75A						.						127	112	117					1																	153085135		2203	4296	6499	SO:0001819	synonymous_variant	6705	exon2			ACATGGCTCTGGG	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.75G>A	1.37:g.153085135C>T		Somatic	49	1		WXS	Illumina GAIIx	Phase_I	71	11	NM_001014450	0	0	0	0	0	Q5T9T3	Silent	SNP	ENST00000468739.1	37	CCDS30867.1																																																																																			.		0.597	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			T	153085135	C	T	153085135	2	4	23	1	0	0	0	0	0	0	0	1	15148	796	28	3		3	SPRR2F	1	153085135	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		153085135	96165486	1	3992											
C1orf105	92346	bcgsc.ca	37	chr1	172431333	172431333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtacaaccaagaacaAtgaaaatcccagatgatcca	7	9	0	5	rs16844498	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr1:172431333A>G	ENST00000367727.4	+	5	487	c.289A>G	c.(289-291)Atg>Gtg	p.M97V	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.M87V	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	97			M -> V (in dbSNP:rs16844498).							large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						ACCAAGAACAATGAAAATCCC	0.318													A|||	220	0.0439297	0.0272	0.049	5008	,	,		20279	0		0.0875	False		,,,				2504	0.0634				p.M97V		.											.	C1orf105-69	0			c.A289G						.	A	VAL/MET	137,4269	98.5+/-137.1	2,133,2068	97	91	93		289	-8.5	0	1	dbSNP_123	93	515,8085	145.4+/-201.1	19,477,3804	yes	missense	C1orf105	NM_139240.3	21	21,610,5872	GG,GA,AA		5.9884,3.1094,5.0131	benign	97/184	172431333	652,12354	2203	4300	6503	SO:0001583	missense	92346	exon5			AGAACAATGAAAA	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.289A>G	1.37:g.172431333A>G	ENSP00000356700:p.Met97Val	Somatic	298	0		WXS	Illumina GAIIx	Phase_I	189	7	NM_139240	0	0	1	1	0	Q8IY02	Missense_Mutation	SNP	ENST00000367727.4	37	CCDS1301.1	102	0.046703296703296704	14	0.028455284552845527	17	0.04696132596685083	0	0.0	71	0.09366754617414248	A	0.006	-2.077666	0.00375	0.031094	0.059884	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.33438	1.41;1.41;1.41	4.26	-8.53	0.00916	.	1.919010	0.02269	N	0.068313	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06162	-1.0842	10	0.33141	T	0.24	0.3528	0.2515	0.00206	0.3358:0.2407:0.1748:0.2487	rs16844498;rs52830958;rs16844498	97	O95561	CA105_HUMAN	V	97;68;87	ENSP00000356700:M97V;ENSP00000431442:M68V;ENSP00000356698:M87V	ENSP00000356698:M87V	M	+	1	0	C1orf105	170697956	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.598000	0.00419	-4.449000	0.00048	-1.937000	0.00501	ATG	A|0.949;G|0.051		0.318	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		G	172431333	A	G	172431333	3	3	23	1	0	0	0	0	1	0	0	0	1986	101	4	4	307	4	C1orf105	1	172431333	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	19346198	172431333	76819288	2	3993											
PLEKHA6	22874	bcgsc.ca	37	chr1	204242838	204242838	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagccgggcgtttcccAcctgttttattggacatgtc	12	10	0	0	rs33911350	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr1:204242838A>C	ENST00000272203.3	-	3	334	c.18T>G	c.(16-18)ggT>ggG	p.G6G	PLEKHA6_ENST00000414478.1_Silent_p.G6G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	6								p.G6G(1)		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)			GGCGTTTCCCACCTGTTTTAT	0.522													A|||	1004	0.200479	0.1286	0.2406	5008	,	,		18200	0.2946		0.1769	False		,,,				2504	0.1963				p.G6G		.											.	PLEKHA6-654	1	Substitution - coding silent(1)	stomach(1)	c.T18G						.	A		641,3765	270.7+/-269.8	50,541,1612	153	139	144		18	2.1	1	1	dbSNP_126	144	1474,7126	276.4+/-292.3	144,1186,2970	no	coding-synonymous	PLEKHA6	NM_014935.2		194,1727,4582	CC,CA,AA		17.1395,14.5483,16.2617		6/1049	204242838	2115,10891	2203	4300	6503	SO:0001819	synonymous_variant	22874	exon3			TTTCCCACCTGTT	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.18T>G	1.37:g.204242838A>C		Somatic	123	4		WXS	Illumina GAIIx	Phase_I	124	8	NM_014935	0	0	0	0	0	A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																			A|0.831;C|0.169		0.522	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204242838	A	C	204242838	2	2	23	1	0	0	0	0	0	0	0	1	12099	146	6	5		5	PLEKHA6	1	204242838	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	31811505	204242838	45007783	3	3994											
DNAH6	1768	broad.mit.edu;bcgsc.ca	37	chr2	84945469	84945469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgaaggaaatattctGgacaatgaagaacttattga	8	6	2	4	rs1192344	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr2:84945469G>A	ENST00000237449.6	+	58	9761	c.9753G>A	c.(9751-9753)ctG>ctA	p.L3251L	DNAH6_ENST00000389394.3_Silent_p.L3251L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3251	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(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						GAAATATTCTGGACAATGAAG	0.338													G|||	345	0.0688898	0.1505	0.0331	5008	,	,		19884	0.002		0.0636	False		,,,				2504	0.0583				p.L3251L		.											.	DNAH6-69	0			c.G9753A						.	G		153,1231		12,129,551	107	96	99		9753	-0.2	1	2	dbSNP_87	99	171,3011		4,163,1424	no	coding-synonymous	DNAH6	NM_001370.1		16,292,1975	AA,AG,GG		5.374,11.0549,7.0959		3251/4159	84945469	324,4242	692	1591	2283	SO:0001819	synonymous_variant	1768	exon59			TATTCTGGACAAT	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.9753G>A	2.37:g.84945469G>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	58	5	NM_001370	0	0	1	1	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			G|0.933;A|0.067		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84945469	G	A	84945469	2	1	23	1	0	0	0	0	0	0	0	1	4619	1335	47	3		3	DNAH6	2	84945469	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		84945469	158253904	4	3995											
ANKRD44	91526	bcgsc.ca	37	chr2	198001319	198001319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatggtaatcactcacttcActtctggaagcaacagcccg	7	12	4	0	rs3731569	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr2:198001319A>G	ENST00000328737.2	-	4	259	c.183T>C	c.(181-183)agT>agC	p.S61S	ANKRD44_ENST00000409153.1_Silent_p.S86S|ANKRD44_ENST00000409919.1_Silent_p.S86S|ANKRD44_ENST00000539527.1_Silent_p.S14S|ANKRD44_ENST00000337207.5_Silent_p.S61S|ANKRD44_ENST00000282272.8_Silent_p.S78S|ANKRD44_ENST00000450567.1_Silent_p.S61S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	86								p.S61S(1)		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)			CACTCACTTCACTTCTGGAAG	0.428													a|||	1633	0.326078	0.5862	0.2997	5008	,	,		19780	0.2153		0.2247	False		,,,				2504	0.2117				p.S86S		.											.	ANKRD44-230	1	Substitution - coding silent(1)	stomach(1)	c.T258C						.	G	,	2245,2161	593.1+/-387.9	584,1077,542	83	84	83		258,258	0.2	1	2	dbSNP_107	83	2018,6582	353.0+/-328.9	227,1564,2509	no	coding-synonymous,coding-synonymous	ANKRD44	NM_001195144.1,NM_153697.2	,	811,2641,3051	GG,GA,AA		23.4651,49.0468,32.7772	,	86/994,86/368	198001319	4263,8743	2203	4300	6503	SO:0001819	synonymous_variant	91526	exon4			CACTTCACTTCTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.183T>C	2.37:g.198001319A>G		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	51	5	NM_153697	0	0	0	0	0	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																				A|0.672;G|0.328		0.428	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		G	198001319	A	G	198001319	2	3	23	1	0	0	0	0	0	0	0	1	672	156	6	4		4	ANKRD44	2	198001319	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	113055850	198001319	45198054	5	3996											
IL17RE	132014	bcgsc.ca	37	chr3	9956279	9956279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcacctcttgtgtccGgatggtgagttcttggggag	16	7	2	1	rs455863	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:9956279G>A	ENST00000383814.3	+	14	1449	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000413608.1_5'Flank|IL17RE_ENST00000421412.1_Silent_p.P481P|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000454190.2_Missense_Mutation_p.G473R|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RC_ENST00000295981.3_5'Flank|IL17RE_ENST00000295980.3_Silent_p.P448P	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	448					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCTTGTGTCCGGATGGTGAGT	0.607													G|||	1813	0.362021	0.4054	0.4625	5008	,	,		19167	0.0933		0.5447	False		,,,				2504	0.3211				p.G473R		.											.	IL17RE-90	0			c.G1417A						.	G	ARG/GLY,,	1829,2577	533.4+/-373.7	391,1047,765	121	123	122		1417,1344,1464	-9.9	0	3	dbSNP_80	122	4579,4021	597.6+/-393.8	1205,2169,926	yes	missense,coding-synonymous,coding-synonymous	IL17RE	NM_001193380.1,NM_153480.1,NM_153483.2	125,,	1596,3216,1691	AA,AG,GG		46.7558,41.5116,49.2696	,,	473/534,448/668,488/708	9956279	6408,6598	2203	4300	6503	SO:0001819	synonymous_variant	132014	exon14			GTGTCCGGATGGT	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1344G>A	3.37:g.9956279G>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	101	5	NM_001193380	0	0	0	0	0	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	CCDS2589.1	809	0.37042124542124544	192	0.3902439024390244	168	0.46408839779005523	38	0.06643356643356643	411	0.5422163588390502	G	3.940	-0.014333	0.07681	0.415116	0.532442	ENSG00000163701	ENST00000454190	T	0.30714	1.52	4.94	-9.87	0.00470	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.21861	P	0.999502608	B	0.02656	0.0	B	0.01281	0.0	T	0.31724	-0.9933	7	0.87932	D	0	-12.6119	6.2348	0.20756	0.0884:0.1602:0.4815:0.27	rs455863;rs1300549;rs52806952;rs61674331;rs455863	473	Q8NFR9-3	.	R	473	ENSP00000388086:G473R	ENSP00000388086:G473R	G	+	1	0	IL17RE	9931279	0.000000	0.05858	0.011000	0.14972	0.478000	0.33099	-5.110000	0.00150	-4.926000	0.00027	-2.560000	0.00174	GGA	A|0.424;C|0.006		0.607	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		A	9956279	G	A	9956279	2	1	23	1	0	0	0	0	0	0	0	1	7670	1103	39	1		1	IL17RE	3	9956279	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		9956279	188066151	6	3997											
ACVR2B	93	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38519421	38519421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggcaacttctgcaaCgaacgcttcactcatttgcc	8	12	3	1	rs528729033		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:38519421C>T	ENST00000352511.4	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	110					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582																																					p.N110N		.											.	ACVR2B-942	0			c.C330T						.						128	126	126					3																	38519421		2203	4300	6503	SO:0001819	synonymous_variant	93	exon3			CTGCAACGAACGC	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.330C>T	3.37:g.38519421C>T		Somatic	225	0		WXS	Illumina GAIIx	Phase_I	215	175	NM_001106	0	0	0	1	1	Q4VAV0	Silent	SNP	ENST00000352511.4	37	CCDS2679.1																																																																																			.		0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		T	38519421	C	T	38519421	2	4	23	1	0	0	0	0	0	0	0	1	224	535	19	1		1	ACVR2B	3	38519421	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	28563142	38519421	159503009	7	3998											
KIF15	56992	broad.mit.edu;bcgsc.ca	37	chr3	44856506	44856506	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcattcaaaacgaatcaggaGaaagaattcaacaaactttc	5	8	4	2	rs34058914	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:44856506G>C	ENST00000326047.4	+	20	2636	c.2487G>C	c.(2485-2487)gaG>gaC	p.E829D	KIF15_ENST00000425755.1_Missense_Mutation_p.E464D	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CGAATCAGGAGAAAGAATTCA	0.378													G|||	4	0.000798722	0	0.0029	5008	,	,		19444	0		0.002	False		,,,				2504	0				p.E829D		.											.	KIF15-91	0			c.G2487C						.	G	ASP/GLU	0,4406		0,0,2203	110	106	107		2487	3.7	1	3	dbSNP_126	107	37,8563	25.1+/-72.6	0,37,4263	yes	missense	KIF15	NM_020242.2	45	0,37,6466	CC,CG,GG		0.4302,0.0,0.2845	possibly-damaging	829/1389	44856506	37,12969	2203	4300	6503	SO:0001583	missense	56992	exon20			TCAGGAGAAAGAA	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2487G>C	3.37:g.44856506G>C	ENSP00000324020:p.Glu829Asp	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	60	5	NM_020242	0	0	1	1	0	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	11.89	1.774333	0.31411	0.0	0.004302	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.55052	0.54;0.54;0.54	5.76	3.74	0.42951	.	0.000000	0.52532	D	0.000077	T	0.49575	0.1565	M	0.70595	2.14	0.42822	D	0.993999	B	0.15473	0.013	B	0.15052	0.012	T	0.48502	-0.9030	10	0.28530	T	0.3	.	11.4045	0.49889	0.1954:0.0:0.8046:0.0	rs34058914	829	Q9NS87	KIF15_HUMAN	D	829;601;828;464	ENSP00000324020:E829D;ENSP00000425499:E601D;ENSP00000389982:E464D	ENSP00000324020:E829D	E	+	3	2	KIF15	44831510	1.000000	0.71417	0.994000	0.49952	0.583000	0.36354	2.052000	0.41316	1.449000	0.47699	0.591000	0.81541	GAG	G|0.998;C|0.002		0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			C	44856506	G	C	44856506	3	2	23	1	0	0	0	0	1	0	0	0	8304	933	33	3	2565	3	KIF15	3	44856506	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	6337085	44856506	153165924	8	3999											
OR5H2	79310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	98001912	98001912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggaatgacccacaacttCacatccccatgtactttttt	4	13	2	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:98001912C>A	ENST00000355273.2	+	1	181	c.181C>A	c.(181-183)Cac>Aac	p.H61N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCACAACTTCACATCCCCAT	0.413																																					p.H61N		.											.	OR5H2-71	0			c.C181A						.						337	314	321					3																	98001912		2203	4300	6503	SO:0001583	missense	79310	exon1			CAACTTCACATCC		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.181C>A	3.37:g.98001912C>A	ENSP00000347418:p.His61Asn	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	162	120	NM_001005482	0	0	0	0	0	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413728	0.42817	.	.	ENSG00000197938	ENST00000355273	T	0.15952	2.38	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000901	T	0.38719	0.1051	M	0.84585	2.705	0.40864	D	0.983852	D	0.62365	0.991	P	0.58721	0.844	T	0.48937	-0.8990	10	0.59425	D	0.04	.	12.205	0.54346	0.0:1.0:0.0:0.0	.	61	Q8NGV7	OR5H2_HUMAN	N	61	ENSP00000347418:H61N	ENSP00000347418:H61N	H	+	1	0	OR5H2	99484602	1.000000	0.71417	0.915000	0.36163	0.030000	0.12068	5.309000	0.65774	1.787000	0.52448	0.543000	0.68304	CAC	.		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			A	98001912	C	A	98001912	3	1	23	1	0	0	0	0	1	0	0	0	11201	826	29	3	183	3	OR5H2	3	98001912	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	53145406	98001912	100020518	9	4000											
MYH15	22989	bcgsc.ca	37	chr3	108188993	108188993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccagaacaaacatgtGccaattgaagaattgttgta	8	7	0	3	rs9868484	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:108188993G>A	ENST00000273353.3	-	15	1566	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	504	Myosin motor.		H -> Y (in dbSNP:rs9868484). {ECO:0000269|PubMed:10231032}.			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						ACAAACATGTGCCAATTGAAG	0.343													G|||	2586	0.516374	0.6876	0.572	5008	,	,		18039	0.0218		0.7406	False		,,,				2504	0.5245				p.H504Y		.											.	MYH15-73	0			c.C1510T						.	G	TYR/HIS	2494,1138		844,806,166	113	103	106		1510	4.4	0	3	dbSNP_119	106	5903,2267		2118,1667,300	yes	missense	MYH15	NM_014981.1	83	2962,2473,466	AA,AG,GG		27.7479,31.3326,28.851	possibly-damaging	504/1947	108188993	8397,3405	1816	4085	5901	SO:0001583	missense	22989	exon15			ACATGTGCCAATT	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.1510C>T	3.37:g.108188993G>A	ENSP00000273353:p.His504Tyr	Somatic	193	2		WXS	Illumina GAIIx	Phase_I	171	8	NM_014981	0	0	0	0	0		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	1153	0.5279304029304029	347	0.7052845528455285	228	0.6298342541436464	3	0.005244755244755245	575	0.758575197889182	G	15.59	2.878614	0.51801	0.686674	0.722521	ENSG00000144821	ENST00000273353	T	0.73363	-0.74	6.16	4.37	0.52481	Myosin head, motor domain (2);	.	.	.	.	T	0.00012	0.0000	M	0.92122	3.275	0.26714	P	0.9709055	D	0.65815	0.995	D	0.70227	0.968	T	0.46442	-0.9191	8	0.87932	D	0	.	11.7935	0.52084	0.0636:0.0:0.8124:0.1239	rs9868484;rs52823671;rs57284386;rs9868484	504	Q9Y2K3	MYH15_HUMAN	Y	504	ENSP00000273353:H504Y	ENSP00000273353:H504Y	H	-	1	0	MYH15	109671683	1.000000	0.71417	0.003000	0.11579	0.342000	0.28953	4.767000	0.62286	0.912000	0.36772	0.650000	0.86243	CAC	G|0.424;A|0.576		0.343	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		A	108188993	G	A	108188993	3	1	23	1	0	0	0	0	1	0	0	0	10072	1319	46	3	4442	3	MYH15	3	108188993	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	10187081	108188993	89833437	10	4001											
TMEM108	66000	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	133098806	133098806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctcccatggcaacacCgacaccccgtgcagaggggc	12	16	0	1	rs34111099	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:133098806C>T	ENST00000321871.6	+	4	461	c.251C>T	c.(250-252)cCg>cTg	p.P84L	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.P84L|TMEM108_ENST00000515826.1_Missense_Mutation_p.P84L	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	84	Pro-rich.		P -> L (in dbSNP:rs34111099). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:12975309}.			integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCAACACCGACACCCCGT	0.627													c|||	145	0.0289537	0.0136	0.0173	5008	,	,		15503	0		0.0616	False		,,,				2504	0.0542				p.P84L		.											.	TMEM108-94	0			c.C251T						.		LEU/PRO,LEU/PRO	82,4324	68.7+/-106.4	2,78,2123	97	89	92		251,251	0.9	0	3	dbSNP_126	92	597,8003	157.7+/-211.4	23,551,3726	yes	missense,missense	TMEM108	NM_001136469.1,NM_023943.2	98,98	25,629,5849	TT,TC,CC		6.9419,1.8611,5.2207	benign,benign	84/576,84/576	133098806	679,12327	2203	4300	6503	SO:0001583	missense	66000	exon4			CAACACCGACACC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.251C>T	3.37:g.133098806C>T	ENSP00000324651:p.Pro84Leu	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	175	128	NM_023943	0	0	0	3	3	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	61	0.027930402930402932	12	0.024390243902439025	4	0.011049723756906077	0	0.0	45	0.059366754617414245	c	2.305	-0.359279	0.05138	0.018611	0.069419	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	2.76	0.893	0.19236	.	0.467395	0.15982	N	0.235273	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B;B	0.29862	0.259;0.007	B;B	0.20384	0.029;0.004	T	0.08269	-1.0730	10	0.52906	T	0.07	0.0198	3.2014	0.06651	0.2607:0.5932:0.0:0.1461	rs34111099	84;84	E9PB58;Q6UXF1	.;TM108_HUMAN	L	84;84;35;35;84;84;84	ENSP00000324651:P84L;ENSP00000376838:P84L;ENSP00000422072:P35L;ENSP00000427447:P35L;ENSP00000426301:P84L;ENSP00000423338:P84L;ENSP00000421486:P84L	ENSP00000324651:P84L	P	+	2	0	TMEM108	134581496	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.106000	0.15354	0.219000	0.20840	0.457000	0.33378	CCG	C|0.953;T|0.047		0.627	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		T	133098806	C	T	133098806	3	4	23	1	0	0	0	0	1	0	0	0	16071	652	23	1	257	1	TMEM108	3	133098806	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	24909813	133098806	64923624	11	4002											
SKIL	6498	bcgsc.ca	37	chr3	170078232	170078232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgataacggacattcatgCaaatggaaaaacgataaaca	7	6	1	1	rs3772173	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:170078232C>T	ENST00000458537.3	+	1	822	c.113C>T	c.(112-114)gCa>gTa	p.A38V	SKIL_ENST00000413427.2_Missense_Mutation_p.A38V|SKIL_ENST00000259119.4_Missense_Mutation_p.A38V|SKIL_ENST00000426052.2_Missense_Mutation_p.A18V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	38			A -> V (in dbSNP:rs3772173). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2762147, ECO:0000269|PubMed:9207045}.		blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GACATTCATGCAAATGGAAAA	0.438													C|||	3457	0.690296	0.4281	0.8228	5008	,	,		19411	0.8383		0.8161	False		,,,				2504	0.6687				p.A38V		.											.	SKIL-228	0			c.C113T						.	C	VAL/ALA,VAL/ALA,VAL/ALA	2310,2096	602.2+/-389.9	608,1094,501	102	93	96		113,53,113	4.4	1	3	dbSNP_107	96	7054,1546	745.9+/-407.3	2891,1272,137	yes	missense,missense,missense	SKIL	NM_001145097.1,NM_001145098.1,NM_005414.3	64,64,64	3499,2366,638	TT,TC,CC		17.9767,47.5715,28.0025	benign,benign,benign	38/639,18/665,38/685	170078232	9364,3642	2203	4300	6503	SO:0001583	missense	6498	exon1			TTCATGCAAATGG	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.113C>T	3.37:g.170078232C>T	ENSP00000415243:p.Ala38Val	Somatic	262	2		WXS	Illumina GAIIx	Phase_I	210	8	NM_001248008	0	0	12	12	0	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	1613	0.7385531135531136	209	0.4247967479674797	297	0.8204419889502762	487	0.8513986013986014	620	0.8179419525065963	C	2.560	-0.302084	0.05495	0.524285	0.820233	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.52	4.42	0.53409	.	0.259619	0.38663	N	0.001620	T	0.00012	0.0000	N	0.04043	-0.29	0.33540	P	0.405273	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.48559	-0.9025	9	0.02654	T	1	-7.2877	4.1038	0.10026	0.0:0.683:0.0:0.317	rs3772173;rs17846573;rs17859654;rs52824578;rs58946182;rs3772173	38;38	P12757-3;P12757	.;SKIL_HUMAN	V	38;38;18;38;38	ENSP00000417670:A38V;ENSP00000259119:A38V;ENSP00000406520:A18V;ENSP00000400193:A38V;ENSP00000415243:A38V	ENSP00000259119:A38V	A	+	2	0	SKIL	171560926	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	2.137000	0.42130	2.773000	0.95371	0.585000	0.79938	GCA	C|0.286;T|0.714		0.438	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		T	170078232	C	T	170078232	3	4	23	1	0	0	0	0	1	0	0	0	14403	710	25	3	115	3	SKIL	3	170078232	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	36979426	170078232	27944198	12	4003											
TNK2	10188	hgsc.bcm.edu	37	chr3	195594805	195594805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcacccggggaggggaAgcaggtccaggccactggct	19	11	0	0	rs1056749	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr3:195594805A>G	ENST00000333602.6	-	12	2936	c.2319T>C	c.(2317-2319)gcT>gcC	p.A773A	TNK2_ENST00000381916.2_Silent_p.A851A|TNK2_ENST00000428187.1_Silent_p.A805A|TNK2_ENST00000392400.1_Silent_p.A773A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	773	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGAGGGGAAGCAGGTCCAG	0.746													a|||	593	0.118411	0.1505	0.0865	5008	,	,		11184	0.0327		0.175	False		,,,				2504	0.1278				p.A851A		.											.	TNK2-957	0			c.T2553C						.		,	451,3449		26,399,1525	5	7	6		2553,2319	-1.4	0.8	3	dbSNP_86	6	1067,6843		74,919,2962	no	coding-synonymous,coding-synonymous	TNK2	NM_001010938.1,NM_005781.4	,	100,1318,4487	GG,GA,AA		13.4893,11.5641,12.8535	,	851/1087,773/1039	195594805	1518,10292	1950	3955	5905	SO:0001819	synonymous_variant	10188	exon13			AGGGGAAGCAGGT	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.2319T>C	3.37:g.195594805A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001010938	0	0	0	5	5	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																			A|0.886;G|0.114		0.746	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195594805	A	G	195594805	2	3	23	1	0	0	0	0	0	0	0	1	16365	59	3	4		4	TNK2	3	195594805	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	25516573	195594805	2427625	13	4004											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389070	1389070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacgtgccgatgtggAgtgcccgcctgctcacacgt	12	15	2	0	rs151096093	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr4:1389070A>G	ENST00000324803.4	+	1	3731	c.771A>G	c.(769-771)ggA>ggG	p.G257G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	257					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGAGTGCCCGCCT	0.697																																					p.G257G		.											.	CRIPAK-90	0			c.A771G						.						159	142	148					4																	1389070		2202	4299	6501	SO:0001819	synonymous_variant	285464	exon1			ATGTGGAGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.771A>G	4.37:g.1389070A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	76	27	NM_175918	0	0	2	5	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			A|0.981;G|0.019		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389070	A	G	1389070	2	3	23	1	0	0	0	0	0	0	0	1	3884	291	11	4		4	CRIPAK	4	1389070	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10		1389070	189765206	14	4005											
KIAA1211	57482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	57181586	57181586	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggggagaaccctcccCgaggccccggcgacgcgagg	16	16	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr4:57181586C>T	ENST00000504228.1	+	6	2023	c.1918C>T	c.(1918-1920)Cga>Tga	p.R640*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.R633*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.R640*			Q6ZU35	K1211_HUMAN	KIAA1211	640										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAACCCTCCCCGAGGCCCCGG	0.682																																					p.R640X		.											.	KIAA1211-70	0			c.C1918T						.						12	15	14					4																	57181586		1853	4043	5896	SO:0001587	stop_gained	57482	exon8			CCTCCCCGAGGCC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1918C>T	4.37:g.57181586C>T	ENSP00000423366:p.Arg640*	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	80	42	NM_020722	0	0	0	0	0	Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545699	0.96488	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	.	.	.	4.38	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.517	7.5704	0.27904	0.401:0.4616:0.1374:0.0	.	.	.	.	X	640;640;633;550	.	ENSP00000264229:R640X	R	+	1	2	KIAA1211	56876343	0.025000	0.19082	0.024000	0.17045	0.040000	0.13550	0.708000	0.25719	0.779000	0.33543	0.561000	0.74099	CGA	.		0.682	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57181586	C	T	57181586	4	4	23	1	0	0	0	0	0	1	0	0	8242	644	23	1	1936	1	KIAA1211	4	57181586	Nonsense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	55792516	57181586	133972690	15	4006											
TKTL2	84076	broad.mit.edu;bcgsc.ca	37	chr4	164393463	164393463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttctggttggctggttCgaatgaagcacattcccttg	11	9	1	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr4:164393463C>T	ENST00000280605.3	-	1	1584	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	475						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R475Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGCTGGTTCGAATGAAGCA	0.453																																					p.R475Q		.											.	TKTL2-95	1	Substitution - Missense(1)	skin(1)	c.G1424A						.						104	110	108					4																	164393463		2203	4300	6503	SO:0001583	missense	84076	exon1			CTGGTTCGAATGA	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1424G>A	4.37:g.164393463C>T	ENSP00000280605:p.Arg475Gln	Somatic	69	2		WXS	Illumina GAIIx	Phase_I	111	44	NM_032136	0	0	0	0	0	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792389	0.70452	.	.	ENSG00000151005	ENST00000280605	D	0.92299	-3.01	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.97148	0.9068	H	0.98559	4.265	0.58432	D	0.999994	D	0.89917	1.0	D	0.75484	0.986	D	0.96569	0.9421	10	0.87932	D	0	-12.685	8.054	0.30593	0.0:0.8931:0.0:0.1069	.	475	Q9H0I9	TKTL2_HUMAN	Q	475	ENSP00000280605:R475Q	ENSP00000280605:R475Q	R	-	2	0	TKTL2	164612913	0.913000	0.31002	0.224000	0.23877	0.811000	0.45836	5.223000	0.65283	2.611000	0.88343	0.650000	0.86243	CGA	.		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		T	164393463	C	T	164393463	3	4	23	1	0	0	0	0	1	0	0	0	15983	884	31	1	460	1	TKTL2	4	164393463	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	107211877	164393463	26760813	16	4007											
KIF3A	11127	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	132069983	132069983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactctctggtccaaaaacaGtatcaaaagtaaatgtcttt	5	8	3	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr5:132069983G>T	ENST00000378746.4	-	2	412	c.194C>A	c.(193-195)aCt>aAt	p.T65N	KIF3A_ENST00000378735.1_Missense_Mutation_p.T65N|KIF3A_ENST00000403231.1_Missense_Mutation_p.T65N	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	65	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)			TCCAAAAACAGTATCAAAAGT	0.368																																					p.T65N		.											.	KIF3A-91	0			c.C194A						.						178	177	178					5																	132069983		2203	4300	6503	SO:0001583	missense	11127	exon2			AAAACAGTATCAA	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.194C>A	5.37:g.132069983G>T	ENSP00000368020:p.Thr65Asn	Somatic	159	2		WXS	Illumina GAIIx	Phase_I	279	74	NM_007054	0	0	16	20	4	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067293	0.55539	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914;ENST00000428744	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.72	5.72	0.89469	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	N	0.02286	-0.61	0.80722	D	1	B;B;B;B	0.30542	0.063;0.284;0.238;0.063	B;B;B;B	0.36885	0.235;0.018;0.079;0.009	T	0.60177	-0.7314	10	0.34782	T	0.22	.	19.8691	0.96843	0.0:0.0:1.0:0.0	.	65;65;65;65	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	N	65;65;65;65;35;64	ENSP00000368020:T65N;ENSP00000368009:T65N;ENSP00000385808:T65N;ENSP00000391863:T64N	ENSP00000368009:T65N	T	-	2	0	KIF3A	132097882	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.869000	0.99810	2.706000	0.92434	0.313000	0.20887	ACT	.		0.368	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		T	132069983	G	T	132069983	3	4	23	1	0	0	0	0	1	0	0	0	8327	1029	36	3	1969	3	KIF3A	5	132069983	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		132069983	48845277	17	4008											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	23	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	43722622	175792605	5122655	18	4009											
VARS	7407	hgsc.bcm.edu	37	chr6	31762843	31762843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggtgggggaaagGgagtcctgctagtcgggggt	23	6	0	0	rs2607015|rs67600122	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:31762843G>C	ENST00000375663.3	-	2	592	c.152C>G	c.(151-153)cCc>cGc	p.P51R	LSM2_ENST00000491421.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	51			P -> R (in dbSNP:rs2607015).|P -> T (in dbSNP:rs2753960).	P -> S (in Ref. 1; CAA41990 and 7; AAH12808). {ECO:0000305}.	gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGGGGAAAGGGAGTCCTGCT	0.736													G|||	1751	0.349641	0.1793	0.4179	5008	,	,		11928	0.3859		0.4414	False		,,,				2504	0.3998				p.P51R		.											.	VARS-93	0			c.C152G						.						5	7	6					6																	31762843		1176	2213	3389	SO:0001583	missense	7407	exon2			GGAAAGGGAGTCC	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.152C>G	6.37:g.31762843G>C	ENSP00000364815:p.Pro51Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_006295	0	0	4	4	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	804	0.36813186813186816	87	0.17682926829268292	155	0.4281767955801105	245	0.42832167832167833	317	0.4182058047493404	G	14.13	2.444414	0.43429	.	.	ENSG00000204394	ENST00000375663;ENST00000440048	T;T	0.28666	3.72;1.6	5.09	3.1	0.35709	Glutathione S-transferase, N-terminal (1);	0.568214	0.16703	N	0.203053	T	0.07234	0.0183	N	0.08118	0	0.39930	P	0.025724999999999998	B	0.06786	0.001	B	0.10450	0.005	T	0.14420	-1.0473	9	0.37606	T	0.19	-18.6403	11.4885	0.50367	0.0:0.2797:0.7203:0.0	rs2607015;rs57764692;rs2607015	51	P26640	SYVC_HUMAN	R	51	ENSP00000364815:P51R;ENSP00000413925:P51R	ENSP00000364815:P51R	P	-	2	0	VARS	31870822	0.993000	0.37304	0.186000	0.23195	0.994000	0.84299	3.479000	0.53165	2.391000	0.81399	0.462000	0.41574	CCC	CT|0.500;GG|0.500		0.736	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		C	31762843	G	C	31762843	3	2	23	1	0	0	0	0	1	0	0	0	17172	1232	43	3	3758	3	VARS	6	31762843	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		31762843	139352224	19	4010											
C6orf222	389384	broad.mit.edu;bcgsc.ca	37	chr6	36298316	36298316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcccaatcactggtcGtccagtgaagcgccttcctg	11	14	2	1	rs74561471	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:36298316G>A	ENST00000437635.2	-	2	329	c.152C>T	c.(151-153)aCg>aTg	p.T51M		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	51										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ATCACTGGTCGTCCAGTGAAG	0.647													G|||	5	0.000998403	0	0	5008	,	,		14758	0		0.004	False		,,,				2504	0.001				p.T51M		.											.	C6orf222-93	0			c.C152T						.	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	49	53	52		152	2.5	0	6	dbSNP_132	52	25,8575	16.0+/-53.3	1,23,4276	yes	missense	C6orf222	NM_001010903.4	81	1,25,6477	AA,AG,GG		0.2907,0.0454,0.2076	probably-damaging	51/653	36298316	27,12979	2203	4300	6503	SO:0001583	missense	389384	exon2			CTGGTCGTCCAGT		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.152C>T	6.37:g.36298316G>A	ENSP00000418983:p.Thr51Met	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_001010903	0	0	0	0	0	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	9.448	1.089741	0.20390	4.54E-4	0.002907	ENSG00000189325	ENST00000437635	T	0.51325	0.71	4.33	2.5	0.30297	.	0.499782	0.17010	N	0.190555	T	0.21509	0.0518	L	0.36672	1.1	0.09310	N	1	D	0.57571	0.98	P	0.46585	0.521	T	0.04427	-1.0952	10	0.54805	T	0.06	-16.5245	5.9727	0.19361	0.1097:0.2233:0.667:0.0	.	51	P0C671	CF222_HUMAN	M	51	ENSP00000418983:T51M	ENSP00000418983:T51M	T	-	2	0	C6orf222	36406294	0.005000	0.15991	0.000000	0.03702	0.034000	0.12701	1.656000	0.37355	0.365000	0.24400	0.471000	0.43371	ACG	G|0.998;A|0.002		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		A	36298316	G	A	36298316	3	1	23	1	0	0	0	0	1	0	0	0	2363	1145	40	1	1850	1	C6orf222	6	36298316	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	4535473	36298316	134816751	20	4011											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	21	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	23	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	2983720	39282036	131833031	21	4012											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_000287	0	0	0	19	19	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	23	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	3664454	42946490	128168577	22	4013											
NDUFAF4	29078	bcgsc.ca	37	chr6	97339126	97339126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccaggtttctgggaaaaGcttatgattattgagaagtg	12	4	1	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:97339126G>T	ENST00000316149.7	-	3	461	c.382C>A	c.(382-384)Ctt>Att	p.L128I	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	128					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCTGGGAAAAGCTTATGATTA	0.328																																					p.L128I		.											.	NDUFAF4-91	0			c.C382A						.						68	70	69					6																	97339126		2202	4300	6502	SO:0001583	missense	29078	exon3			GGAAAAGCTTATG	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"Mitochondrial respiratory chain complex assembly factors"	21034	protein-coding gene	gene with protein product		611776	"chromosome 6 open reading frame 66", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.382C>A	6.37:g.97339126G>T	ENSP00000358272:p.Leu128Ile	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	57	5	NM_014165	0	0	146	146	0	B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676851	0.47886	.	.	ENSG00000123545	ENST00000316149	D	0.82711	-1.64	5.27	5.27	0.74061	.	0.324362	0.33938	N	0.004405	T	0.76593	0.4009	M	0.76170	2.325	0.33081	D	0.536685	P	0.40000	0.698	B	0.38616	0.277	T	0.81172	-0.1054	10	0.54805	T	0.06	-13.2794	13.8314	0.63382	0.0:0.0:0.8472:0.1528	.	128	Q9P032	NDUF4_HUMAN	I	128	ENSP00000358272:L128I	ENSP00000358272:L128I	L	-	1	0	NDUFAF4	97445847	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	4.092000	0.57707	2.465000	0.83290	0.655000	0.94253	CTT	.		0.328	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		T	97339126	G	T	97339126	3	4	23	1	0	0	0	0	1	0	0	0	10316	971	34	3	149	3	NDUFAF4	6	97339126	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	54392636	97339126	73775941	23	4014											
TFB1M	51106	bcgsc.ca	37	chr6	155606325	155606325	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaaagcttgtcctggaatCgtaaagatgtgtcgaacatt	9	7	0	1	rs324356	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr6:155606325C>T	ENST00000367166.4	-	5	688	c.633G>A	c.(631-633)acG>acA	p.T211T		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	211			T -> A. {ECO:0000269|PubMed:19096125}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GTCCTGGAATCGTAAAGATGT	0.448													T|||	3365	0.671925	0.6846	0.7104	5008	,	,		22209	0.8333		0.5328	False		,,,				2504	0.6043				p.T211T		.											.	TFB1M-91	0			c.G633A						.	T		2894,1512	481.9+/-359.3	941,1012,250	145	127	133		633	-11.8	0	6	dbSNP_79	133	4269,4331	579.6+/-390.9	1072,2125,1103	no	coding-synonymous	TFB1M	NM_016020.3		2013,3137,1353	TT,TC,CC		49.6395,34.3168,44.9254		211/347	155606325	7163,5843	2203	4300	6503	SO:0001819	synonymous_variant	51106	exon5			TGGAATCGTAAAG	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"dimethyladenosine transferase 1, mitochondrial"	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.633G>A	6.37:g.155606325C>T		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	296	8	NM_016020	0	0	30	30	0	Q05DR0|Q9Y384	Silent	SNP	ENST00000367166.4	37	CCDS5248.1																																																																																			C|0.338;T|0.662		0.448	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			T	155606325	C	T	155606325	2	4	23	1	0	0	0	0	0	0	0	1	15840	871	31	1		1	TFB1M	6	155606325	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	58267199	155606325	15508742	24	4015											
PRPS1L1	221823	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	18066907	18066907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagcatctggcgagacaaTaatgcagttcttccactcag	8	12	3	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr7:18066907T>A	ENST00000506618.2	-	1	579	c.499A>T	c.(499-501)Att>Ttt	p.I167F		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	167					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GGCGAGACAATAATGCAGTTC	0.443																																					p.I167F		.											.	PRPS1L1-1	0			c.A499T						.						99	96	97					7																	18066907		2199	4300	6499	SO:0001583	missense	221823	exon1			AGACAATAATGCA	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.499A>T	7.37:g.18066907T>A	ENSP00000424595:p.Ile167Phe	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	260	86	NM_175886	0	0	0	0	0	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799748	0.50208	.	.	ENSG00000229937	ENST00000506618	D	0.92805	-3.11	4.62	-4.66	0.03329	Phosphoribosyltransferase (1);	.	.	.	.	D	0.94820	0.8327	M	0.89214	3.015	.	.	.	B	0.33755	0.424	P	0.49683	0.619	D	0.94343	0.7572	8	0.87932	D	0	.	13.1332	0.59395	0.0:0.5724:0.0:0.4276	.	167	P21108	PRPS3_HUMAN	F	167	ENSP00000424595:I167F	ENSP00000424595:I167F	I	-	1	0	PRPS1L1	18033432	0.502000	0.26107	0.000000	0.03702	0.755000	0.42902	0.789000	0.26886	-0.784000	0.04528	0.528000	0.53228	ATT	.		0.443	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		A	18066907	T	A	18066907	3	1	23	1	0	0	0	0	1	0	0	0	12621	1406	49	5	461	5	PRPS1L1	7	18066907	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10		18066907	141071756	25	4016											
NPC1L1	29881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44560705	44560705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatgcagttctttaggCagttcagagagtctgcagag	12	8	4	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr7:44560705C>G	ENST00000289547.4	-	13	3021	c.2966G>C	c.(2965-2967)tGc>tCc	p.C989S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.C943S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.C989S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	989					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTTCTTTAGGCAGTTCAGAGA	0.567																																					p.C989S		.											.	NPC1L1-94	0			c.G2966C						.						113	110	111					7																	44560705		2203	4300	6503	SO:0001583	missense	29881	exon13			TTTAGGCAGTTCA		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2966G>C	7.37:g.44560705C>G	ENSP00000289547:p.Cys989Ser	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	121	51	NM_001101648	0	0	1	1	0	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981390	0.74474	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94417	-3.29;-3.32;-3.42	5.26	5.26	0.73747	.	4.384240	0.01495	N	0.017265	D	0.98466	0.9489	M	0.94101	3.495	0.58432	D	0.999997	B;D;D	0.89917	0.324;1.0;0.995	B;D;P	0.85130	0.123;0.997;0.858	D	0.91568	0.5269	10	0.46703	T	0.11	-31.617	16.3366	0.83064	0.0:1.0:0.0:0.0	.	943;989;989	B7ZLE6;Q17RV5;D3DVK9	.;.;.	S	989;989;943	ENSP00000289547:C989S;ENSP00000370552:C989S;ENSP00000438033:C943S	ENSP00000289547:C989S	C	-	2	0	NPC1L1	44527230	0.998000	0.40836	0.565000	0.28409	0.691000	0.40173	4.545000	0.60698	2.476000	0.83614	0.585000	0.79938	TGC	.		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		G	44560705	C	G	44560705	3	3	23	1	0	0	0	0	1	0	0	0	10610	710	25	3	1145	3	NPC1L1	7	44560705	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	26493798	44560705	114577958	26	4017											
AKAP9	10142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	91646396	91646396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatacaacaaactcttggtaCttcaaacacgactaagcaag	5	10	2	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr7:91646396C>A	ENST00000359028.2	+	13	4078	c.3853C>A	c.(3853-3855)Ctt>Att	p.L1285I	AKAP9_ENST00000356239.3_Missense_Mutation_p.L1273I|AKAP9_ENST00000358100.2_Missense_Mutation_p.L1285I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1285					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)			ACTCTTGGTACTTCAAACACG	0.313			T	BRAF	papillary thyroid																																p.L1273I		.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9-755	0			c.C3817A						.						80	72	75					7																	91646396		2200	4295	6495	SO:0001583	missense	10142	exon12			TTGGTACTTCAAA	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.3853C>A	7.37:g.91646396C>A	ENSP00000351922:p.Leu1285Ile	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	237	78	NM_005751	0	0	4	8	4	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117011	0.37339	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.06371	3.34;3.34;3.31	4.25	4.25	0.50352	.	0.000000	0.33401	N	0.004946	T	0.22244	0.0536	M	0.69823	2.125	0.40165	D	0.977119	D;D;D;P	0.67145	0.99;0.99;0.996;0.705	P;P;D;B	0.75484	0.761;0.795;0.986;0.249	T	0.00697	-1.1605	10	0.45353	T	0.12	.	13.8381	0.63421	0.0:1.0:0.0:0.0	.	1285;1273;1273;1285	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	I	1273;1285;1285;1285;1285	ENSP00000348573:L1273I;ENSP00000351922:L1285I;ENSP00000350813:L1285I	ENSP00000348573:L1273I	L	+	1	0	AKAP9	91484332	0.999000	0.42202	0.654000	0.29608	0.424000	0.31475	3.994000	0.56994	2.352000	0.79861	0.655000	0.94253	CTT	.		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91646396	C	A	91646396	3	1	23	1	0	0	0	0	1	0	0	0	459	565	20	3	3863	3	AKAP9	7	91646396	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	47085691	91646396	67492267	27	4018											
GPR37	2861	bcgsc.ca	37	chr7	124386757	124386757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaaggcccgactgaagGgtttgcagagacagaaaagg	14	8	0	4			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr7:124386757G>A	ENST00000303921.2	-	2	2314	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	555					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						CCGACTGAAGGGTTTGCAGAG	0.483																																					p.P555L		.											.	GPR37-523	0			c.C1664T						.						104	97	100					7																	124386757		2203	4300	6503	SO:0001583	missense	2861	exon2			CTGAAGGGTTTGC		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.1664C>T	7.37:g.124386757G>A	ENSP00000306449:p.Pro555Leu	Somatic	157	4		WXS	Illumina GAIIx	Phase_I	182	53	NM_005302	0	0	0	0	0	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218300	0.79464	.	.	ENSG00000170775	ENST00000303921	T	0.37752	1.18	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000023	T	0.56277	0.1974	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.57568	-0.7789	10	0.66056	D	0.02	-26.852	18.0541	0.89358	0.0:0.0:1.0:0.0	.	555	O15354	GPR37_HUMAN	L	555	ENSP00000306449:P555L	ENSP00000306449:P555L	P	-	2	0	GPR37	124173993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.489000	0.83994	0.655000	0.94253	CCC	.		0.483	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124386757	G	A	124386757	3	1	23	1	0	0	0	0	1	0	0	0	6717	1232	43	3	181	3	GPR37	7	124386757	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	32740361	124386757	34751906	28	4019											
NSMAF	8439	hgsc.bcm.edu	37	chr8	59571856	59571856	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggacctgcactgccggAtagctcggcatgcctcggct	14	15	0	0	rs59606339	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr8:59571856A>C	ENST00000038176.3	-	1	272				NSMAF_ENST00000427130.2_Missense_Mutation_p.I17S|snoU13_ENST00000459488.1_RNA	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCACTGCCGGATAGCTCGGCA	0.761													C|||	1348	0.269169	0.4697	0.1037	5008	,	,		10863	0.497		0.0467	False		,,,				2504	0.1094				p.I17S		.											.	NSMAF-91	0			c.T50G						.						4	7	6					8																	59571856		613	1513	2126	SO:0001627	intron_variant	8439	exon1			TGCCGGATAGCTC	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.59+275T>G	8.37:g.59571856A>C		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_001144772	0	0	0	0	0	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	496	0.2271062271062271	186	0.3780487804878049	31	0.0856353591160221	244	0.42657342657342656	35	0.04617414248021108	C	0.151	-1.090991	0.01858	.	.	ENSG00000035681	ENST00000427130	T	0.55413	0.52	1.89	-0.128	0.13506	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45308	-0.9270	6	.	.	.	.	0.796	0.01066	0.2394:0.3623:0.2355:0.1628	rs59606339	17	Q92636-2	.	S	17	ENSP00000411012:I17S	.	I	-	2	0	NSMAF	59734410	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.459000	0.21908	-0.396000	0.07703	-0.358000	0.07595	ATC	A|0.754;C|0.246		0.761	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		C	59571856	A	C	59571856	1	2	23	0	1	0	0	0	0	0	0	0	10713	333	12	5		5	NSMAF	8	59571856	Intron	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10		59571856	86792166	29	4020											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	27	27	NM_024896	0	0	0	5	5	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	23	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		5832728	135380703	30	4021											
KDM4C	23081	bcgsc.ca	37	chr9	7046901	7046901	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagaggaggtgctcttaagCaaacgaagaacaataagtaa	11	5	1	2	rs1407856	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr9:7046901C>G	ENST00000381309.3	+	16	2864	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	KDM4C_ENST00000535193.1_Missense_Mutation_p.Q789E|KDM4C_ENST00000536108.1_Missense_Mutation_p.Q586E|KDM4C_ENST00000543771.1_Missense_Mutation_p.Q767E|KDM4C_ENST00000428870.2_Missense_Mutation_p.Q454E|KDM4C_ENST00000381306.3_Missense_Mutation_p.Q767E|KDM4C_ENST00000442236.2_Missense_Mutation_p.Q512E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	767			Q -> E (in dbSNP:rs1407856).		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						TGCTCTTAAGCAAACGAAGAA	0.368													C|||	1127	0.22504	0.025	0.2723	5008	,	,		20955	0.2937		0.171	False		,,,				2504	0.4468				p.Q789E		.											.	KDM4C-228	0			c.C2365G						.	C	GLU/GLN,GLU/GLN,GLU/GLN,GLU/GLN	233,4173	136.5+/-172.5	10,213,1980	171	155	160		2299,2299,2365,2299	2.5	1	9	dbSNP_88	160	1519,7081	286.5+/-297.7	135,1249,2916	yes	missense,missense,missense,missense	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	29,29,29,29	145,1462,4896	GG,GC,CC		17.6628,5.2882,13.4707	benign,benign,benign,benign	767/1048,767/814,789/836,767/1057	7046901	1752,11254	2203	4300	6503	SO:0001583	missense	23081	exon16			CTTAAGCAAACGA	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.2299C>G	9.37:g.7046901C>G	ENSP00000370710:p.Gln767Glu	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	138	5	NM_001146696	0	0	17	17	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	406	0.1858974358974359	24	0.04878048780487805	90	0.24861878453038674	155	0.270979020979021	137	0.18073878627968337	C	8.625	0.892374	0.17613	0.052882	0.176628	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T;T	0.17691	2.55;2.55;2.55;2.55;2.55;2.26;2.55;2.55	5.44	2.53	0.30540	.	0.275088	0.41823	N	0.000819	T	0.00012	0.0000	L	0.52011	1.625	0.27847	P	0.9408761	B;B;B;B;B	0.21381	0.055;0.001;0.002;0.0;0.001	B;B;B;B;B	0.24974	0.057;0.005;0.004;0.004;0.003	T	0.37979	-0.9682	9	0.21540	T	0.41	-35.9624	16.679	0.85287	0.0:0.6856:0.3144:0.0	rs1407856;rs52835630;rs1407856	512;767;789;767;767	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	E	789;767;767;767;512;586;454;111	ENSP00000442382:Q789E;ENSP00000445427:Q767E;ENSP00000370710:Q767E;ENSP00000370707:Q767E;ENSP00000409353:Q512E;ENSP00000440656:Q586E;ENSP00000405739:Q454E;ENSP00000400127:Q111E	ENSP00000370707:Q767E	Q	+	1	0	KDM4C	7036901	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.162000	0.42367	0.377000	0.24735	-0.175000	0.13238	CAA	C|0.685;G|0.315		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		G	7046901	C	G	7046901	3	3	23	1	0	0	0	0	1	0	0	0	8157	711	25	3	2427	3	KDM4C	9	7046901	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	1214173	7046901	134166530	31	4022											
MLLT3	4300	broad.mit.edu	37	chr9	20414344	20414345	+	In_Frame_Ins	INS	-	-	TGC													gctgctgctgctgctgctacINStgctgctgctgctgctgctg							TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr9:20414344_20414345insTGC	ENST00000380338.4	-	5	785_786	c.499_500insGCA	c.(499-501)agt>aGCAgt	p.167_167S>SS	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Ins_p.164_164S>SS|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	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)		gctgctgctactgctgctgctg	0.53			T	MLL	ALL																																p.S167delinsSS		.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	MLLT3-660	0			c.500_501insGCA						.																																			SO:0001652	inframe_insertion	4300	exon5			CTGCTACTGCTGC	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.497_499dupGCA	9.37:g.20414351_20414353dupTGC	ENSP00000369695:p.Ser190dup	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	39	9	NM_004529	0	0	0	0	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Ins	INS	ENST00000380338.4	37	CCDS6494.1																																																																																			.		0.53	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		TGC	20414345	-	TGC	20414344	7	5	23	1	0	1	1	0	0	0	0	0	9666	565	20	0	1234	0	MLLT3	9	20414344	In_Frame_Ins	INS	-	TCGA-OR-A5JW-01A-11D-A29I-10	13367443	20414344	120799087	32	4023											
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	19	NM_001004065	0	0	0	1	1	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	23	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	92396694	112811038	28402393	33	4024											
DBC1	1620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	121929775	121929775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcgcagtagggtaggtaGccgagtccgactacgtaggt	14	8	0	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr9:121929775G>T	ENST00000265922.3	-	8	2334	c.1873C>A	c.(1873-1875)Cta>Ata	p.L625I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	625					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGGGTAGGTAGCCGAGTCCGA	0.532																																					p.L625I		.											.	DBC1-582	0			c.C1873A						.						135	130	132					9																	121929775		2203	4300	6503	SO:0001583	missense	1620	exon8			TAGGTAGCCGAGT	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1873C>A	9.37:g.121929775G>T	ENSP00000265922:p.Leu625Ile	Somatic	257	1		WXS	Illumina GAIIx	Phase_I	346	294	NM_014618	0	0	0	1	1	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361886	0.24684	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.14022	2.54	5.09	5.09	0.68999	.	0.067515	0.64402	D	0.000010	T	0.12347	0.0300	N	0.22421	0.69	0.48185	D	0.999608	B	0.06786	0.001	B	0.06405	0.002	T	0.07731	-1.0757	10	0.46703	T	0.11	-5.6304	18.8724	0.92320	0.0:0.0:1.0:0.0	.	625	O60477	DBC1_HUMAN	I	625	ENSP00000265922:L625I	ENSP00000265922:L625I	L	-	1	2	DBC1	120969596	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.120000	0.41968	2.540000	0.85666	0.655000	0.94253	CTA	.		0.532	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	121929775	G	T	121929775	3	4	23	1	0	0	0	0	1	0	0	0	4256	962	34	3	416	3	DBC1	9	121929775	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	9118737	121929775	19283656	34	4025											
PTPLA	9200	hgsc.bcm.edu	37	chr10	17659149	17659149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacccccaggcgcctccgctCgccgggagcctcccggtcct	12	21	0	0	rs7895850	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr10:17659149C>G	ENST00000361271.3	-	1	227	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PTPLA_ENST00000326961.6_Missense_Mutation_p.E64Q	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	64			E -> K (in dbSNP:rs7895850). {ECO:0000269|PubMed:10644438, ECO:0000269|PubMed:11054553, ECO:0000269|PubMed:15489334}.|E -> Q (in dbSNP:rs7895850). {ECO:0000269|PubMed:11054553}.		fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGCCTCCGCTCGCCGGGAGCC	0.766													T|||	543	0.108427	0.0401	0.121	5008	,	,		6575	0.2321		0.1103	False		,,,				2504	0.0624				p.E64Q		.											.	PTPLA-226	0			c.G190C						.	T	LYS/GLN/GLU	2648,64,0		1292,64,0,0,0,0	2	4	4		190	2	0.1	10	dbSNP_116	4	4685,237,0		2230,225,0,6,0,0	no	missense	PTPLA	NM_014241.3	29,56	3522,289,0,6,0,0	TT,TG,TC,GG,GC,CC		4.8151,2.3599,3.9429	benign	64/289	17659149	7333,301,0	1356	2461	3817	SO:0001583	missense	9200	exon1			TCCGCTCGCCGGG	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.190G>C	10.37:g.17659149C>G	ENSP00000355308:p.Glu64Gln	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	26	15	NM_014241	0	3	0	4	1	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	T	6.487	0.458102	0.12342	0.023599	0.0481510000000001	ENSG00000165996	ENST00000361271;ENST00000326961	T;T	0.19105	2.75;2.17	3.35	2.04	0.26737	.	0.660756	0.13666	N	0.371221	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.23854	0.092;0.009;0.007	B;B;B	0.12837	0.008;0.001;0.002	T	0.33137	-0.9880	10	0.24483	T	0.36	-20.0823	3.214	0.06692	0.0:0.1393:0.2442:0.6165	.	64;64;64	A6NP58;B0YJ81-2;B0YJ81	.;.;HACD1_HUMAN	Q	64	ENSP00000355308:E64Q;ENSP00000322923:E64Q	ENSP00000322923:E64Q	E	-	1	0	PTPLA	17699155	1.000000	0.71417	0.050000	0.19076	0.003000	0.03518	1.138000	0.31491	0.439000	0.26476	-0.381000	0.06696	GAG	C|0.007;G|0.002;T|0.991		0.766	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		G	17659149	C	G	17659149	3	3	23	1	0	0	0	0	1	0	0	0	12817	893	31	2	704	2	PTPLA	10	17659149	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		17659149	117875598	35	4026											
ALOX5	240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	45938628	45938628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcccctactacttctaccGggacgacgggctcctggtgt	10	15	1	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr10:45938628G>T	ENST00000374391.2	+	10	1468	c.1415G>T	c.(1414-1416)cGg>cTg	p.R472L	ALOX5_ENST00000542434.1_Missense_Mutation_p.R472L|RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000493336.1_3'UTR	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	472	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TACTTCTACCGGGACGACGGG	0.662																																					p.R472L		.											.	ALOX5-228	0			c.G1415T						.						128	138	134					10																	45938628		2203	4300	6503	SO:0001583	missense	240	exon10			TCTACCGGGACGA	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1415G>T	10.37:g.45938628G>T	ENSP00000363512:p.Arg472Leu	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	299	126	NM_000698	0	0	3	3	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648565	0.96714	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.76839	-1.05;-1.05	5.63	5.63	0.86233	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.999	D;P;D	0.79108	0.992;0.764;0.978	D	0.92717	0.6188	10	0.62326	D	0.03	-36.4184	17.16	0.86801	0.0:0.0:1.0:0.0	.	472;440;472	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	472	ENSP00000437634:R472L;ENSP00000363512:R472L	ENSP00000363512:R472L	R	+	2	0	ALOX5	45258634	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.852000	0.99516	2.647000	0.89833	0.511000	0.50034	CGG	.		0.662	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			T	45938628	G	T	45938628	3	4	23	1	0	0	0	0	1	0	0	0	540	1116	39	2	1453	2	ALOX5	10	45938628	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	28279479	45938628	89596119	36	4027											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	8	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	23	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	1061589	47000217	88534530	37	4028											
PANK1	53354	hgsc.bcm.edu	37	chr10	91404832	91404832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgactcccccacctcctcTgcgccctgccccccgcgcgc	8	26	1	0	rs12769113	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr10:91404832T>C	ENST00000307534.4	-	1	383	c.228A>G	c.(226-228)gcA>gcG	p.A76A	RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000371774.2_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000488482.1_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	76					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CCACCTCCTCTGCGCCCTgcc	0.786													C|||	1827	0.364816	0.4924	0.2233	5008	,	,		7044	0.2996		0.2594	False		,,,				2504	0.4683				p.A76A		.											.	PANK1-90	0			c.A228G						.	C		1379,2293		261,857,718	6	8	7		228	1.1	0	10	dbSNP_121	7	1541,6345		172,1197,2574	no	coding-synonymous	PANK1	NM_148977.2		433,2054,3292	CC,CT,TT		19.541,37.5545,25.2639		76/599	91404832	2920,8638	1836	3943	5779	SO:0001819	synonymous_variant	53354	exon1			CTCCTCTGCGCCC	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.228A>G	10.37:g.91404832T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_148977	0	0	0	0	0	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																			T|0.708;C|0.292		0.786	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	91404832	T	C	91404832	2	2	23	1	0	0	0	0	0	0	0	1	11455	1567	55	4		4	PANK1	10	91404832	Silent	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	44404615	91404832	44129915	38	4029											
PCGF5	84333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	93024204	93024204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttggatgtgctgtgcaAtggtgaaattatggggaagg	16	2	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr10:93024204A>G	ENST00000336126.5	+	8	822	c.590A>G	c.(589-591)aAt>aGt	p.N197S	PCGF5_ENST00000543648.1_Missense_Mutation_p.N197S	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	197					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						GTGCTGTGCAATGGTGAAATT	0.289																																					p.N197S	Colon(178;732 2696 46441 50370)	.											.	PCGF5-226	0			c.A590G						.						170	171	170					10																	93024204		2203	4300	6503	SO:0001583	missense	84333	exon8			TGTGCAATGGTGA	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.590A>G	10.37:g.93024204A>G	ENSP00000337500:p.Asn197Ser	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	99	40	NM_001256549	0	0	25	45	20	B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	37	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574736	0.86542	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.49139	0.79;0.79	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.67979	-0.5530	10	0.44086	T	0.13	-26.2276	16.4608	0.84044	1.0:0.0:0.0:0.0	.	197	Q86SE9	PCGF5_HUMAN	S	197	ENSP00000445704:N197S;ENSP00000337500:N197S	ENSP00000337500:N197S	N	+	2	0	PCGF5	93014184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.288000	0.76882	0.533000	0.62120	AAT	.		0.289	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		G	93024204	A	G	93024204	3	3	23	1	0	0	0	0	1	0	0	0	11616	101	4	4	616	4	PCGF5	10	93024204	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	1619372	93024204	42510543	39	4030											
MUC2	4583	bcgsc.ca	37	chr11	1093311	1093311	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accactacggtgaccccaacCccaacacccaccggcacaca	5	21	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:1093311C>A	ENST00000441003.2	+	30	5157	c.5130C>A	c.(5128-5130)acC>acA	p.T1710T	MUC2_ENST00000359061.5_Silent_p.T1677T|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)	tgaccccaaccccaacaccca	0.637																																					p.T1710T		.											.	MUC2-90	0			c.C5130A						.						143	189	173					11																	1093311		1906	3557	5463	SO:0001819	synonymous_variant	4583	exon30			CCCAACCCCAACA	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.5130C>A	11.37:g.1093311C>A		Somatic	85	8		WXS	Illumina GAIIx	Phase_I	73	16	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093311	C	A	1093311	2	1	23	1	0	0	0	0	0	0	0	1	10013	610	22	3		3	MUC2	11	1093311	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		1093311	133913205	40	4031											
MUC2	4583	bcgsc.ca	37	chr11	1093375	1093375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccactacggtgaccCcaaccccaacacccaccggc	5	23	0	1	rs552937801	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:1093375C>T	ENST00000441003.2	+	30	5221	c.5194C>T	c.(5194-5196)Cca>Tca	p.P1732S	MUC2_ENST00000359061.5_Missense_Mutation_p.P1699S|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.P20S	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)	tacggtgaccccaaccccaac	0.657																																					p.P1732S		.											.	MUC2-90	0			c.C5194T						.																																			SO:0001583	missense	4583	exon30			GTGACCCCAACCC	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.5194C>T	11.37:g.1093375C>T	ENSP00000415183:p.Pro1732Ser	Somatic	101	3		WXS	Illumina GAIIx	Phase_I	110	11	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214378	0.01555	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.10288	3.1;3.17;2.89	1.49	-1.27	0.09347	.	498.391000	0.02047	N	0.049780	T	0.06050	0.0157	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	9	0.20519	T	0.43	.	2.7543	0.05288	0.4674:0.3566:0.0:0.176	.	1732	E7EUV1	.	S	1732;1699;20	ENSP00000415183:P1732S;ENSP00000351956:P1699S;ENSP00000331373:P20S	ENSP00000331373:P20S	P	+	1	0	MUC2	1083375	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.627000	0.00874	-0.601000	0.05783	-1.152000	0.01820	CCA	.		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093375	C	T	1093375	3	4	23	1	0	0	0	0	1	0	0	0	10013	623	22	3	5312	3	MUC2	11	1093375	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	64	1093375	133913141	41	4032											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	121	8	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	23	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	160605	1253980	133752536	42	4033											
KRTAP5-5	439915	bcgsc.ca	37	chr11	1651646	1651646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgctgtaagccctaCtgctgccagtccagctgctg	10	15	0	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:1651646C>T	ENST00000399676.2	+	1	614	c.576C>T	c.(574-576)taC>taT	p.Y192Y		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)		GTAAGCCCTACTGCTGCCAGT	0.602																																					p.Y192Y		.											.	KRTAP5-5-23	0			c.C576T						.						79	87	84					11																	1651646		2200	4299	6499	SO:0001819	synonymous_variant	439915	exon1			GCCCTACTGCTGC	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.576C>T	11.37:g.1651646C>T		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	138	13	NM_001001480	0	0	0	0	0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.602	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			T	1651646	C	T	1651646	2	4	23	1	0	0	0	0	0	0	0	1	8592	576	20	3		3	KRTAP5-5	11	1651646	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	397666	1651646	133354870	43	4034											
OR51T1	401665	broad.mit.edu	37	chr11	4903672	4903672	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctttcccatccattttgCtaccacccagaagtgatcaa	6	13	1	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:4903672C>A	ENST00000322049.1	+	1	543	c.543C>A	c.(541-543)tgC>tgA	p.C181*	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Nonsense_Mutation_p.C208*|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCATTTTGCTACCACCCAG	0.443																																					p.C208X		.											.	OR51T1-115	0			c.C624A						.						178	164	169					11																	4903672		2201	4298	6499	SO:0001587	stop_gained	401665	exon1			ATTTTGCTACCAC	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.543C>A	11.37:g.4903672C>A	ENSP00000322679:p.Cys181*	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	141	7	NM_001004759	0	0	0	0	0	Q6IFH9	Nonsense_Mutation	SNP	ENST00000322049.1	37		.	.	.	.	.	.	.	.	.	.	C	18.07	3.542655	0.65198	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	.	.	.	4.8	1.77	0.24775	.	0.301525	0.24128	N	0.041284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.668	0.28443	0.0:0.6974:0.0:0.3026	.	.	.	.	X	208;181	.	ENSP00000322679:C181X	C	+	3	2	OR51T1	4860248	0.000000	0.05858	0.998000	0.56505	0.745000	0.42441	-0.721000	0.04963	0.192000	0.20272	-0.350000	0.07774	TGC	.		0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		A	4903672	C	A	4903672	4	1	23	1	0	0	0	0	0	1	0	0	11145	805	28	3	626	3	OR51T1	11	4903672	Nonsense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	3252026	4903672	130102844	44	4035											
OR51G2	81282	bcgsc.ca	37	chr11	4936721	4936721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataggttcatgaagtgagCgctctgttttaatgataaaa	9	5	2	3	rs60718970	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:4936721C>T	ENST00000322013.3	-	1	201	c.173G>A	c.(172-174)cGc>cAc	p.R58H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGTGAGCGCTCTGTTTT	0.493													C|||	52	0.0103834	0.0371	0.0043	5008	,	,		20589	0		0	False		,,,				2504	0				p.R58H		.											.	OR51G2-70	0			c.G173A						.	C	HIS/ARG	168,4234	112.5+/-150.6	5,158,2038	94	83	87		173	4.6	1	11	dbSNP_129	87	4,8592	4.3+/-15.6	0,4,4294	yes	missense	OR51G2	NM_001005238.1	29	5,162,6332	TT,TC,CC		0.0465,3.8164,1.3233	benign	58/315	4936721	172,12826	2201	4298	6499	SO:0001583	missense	81282	exon1			AGTGAGCGCTCTG	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.173G>A	11.37:g.4936721C>T	ENSP00000322593:p.Arg58His	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	124	6	NM_001005238	0	0	0	0	0	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	21	0.009615384615384616	19	0.03861788617886179	2	0.0055248618784530384	0	0.0	0	0.0	C	12.43	1.935827	0.34189	0.038164	4.65E-4	ENSG00000176893	ENST00000322013	T	0.00438	7.42	5.49	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.479278	0.17700	N	0.164956	T	0.00109	0.0003	L	0.33293	1	0.09310	N	1	B	0.25772	0.134	B	0.09377	0.004	T	0.51387	-0.8712	10	0.33141	T	0.24	.	14.9985	0.71451	0.0:0.1498:0.8502:0.0	rs60718970	58	Q8NGK0	O51G2_HUMAN	H	58	ENSP00000322593:R58H	ENSP00000322593:R58H	R	-	2	0	OR51G2	4893297	0.000000	0.05858	1.000000	0.80357	0.919000	0.55068	0.007000	0.13174	1.553000	0.49476	-0.165000	0.13383	CGC	C|0.986;T|0.014		0.493	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		T	4936721	C	T	4936721	3	4	23	1	0	0	0	0	1	0	0	0	11138	768	27	1	775	1	OR51G2	11	4936721	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	33049	4936721	130069795	45	4036											
TPCN2	219931	bcgsc.ca	37	chr11	68855363	68855363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatattctggaggagcccgGggaggatgagctcacagaga	17	7	2	2	rs3829241	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:68855363G>A	ENST00000294309.3	+	25	2302	c.2201G>A	c.(2200-2202)gGg>gAg	p.G734E	TPCN2_ENST00000542467.1_Missense_Mutation_p.G552E|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	734			G -> E (associated with SHEP10; dbSNP:rs3829241). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:18488028, ECO:0000269|PubMed:19387438}.		calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|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)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGAGCCCGGGGAGGATGAG	0.632													G|||	883	0.176318	0.0386	0.2205	5008	,	,		16887	0.2063		0.3817	False		,,,				2504	0.089				p.G734E		.											.	TPCN2-90	0			c.G2201A	GRCh37	CM083200	TPCN2	M	rs3829241	.	G	GLU/GLY	466,3934	209.5+/-230.2	28,410,1762	27	32	30	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2201	-3.6	0	11	dbSNP_107	30	3292,5296	470.8+/-367.9	620,2052,1622	yes	missense	TPCN2	NM_139075.3	98	648,2462,3384	AA,AG,GG		38.3326,10.5909,28.9344	benign	734/753	68855363	3758,9230	2200	4294	6494	SO:0001583	missense	219931	exon25			AGCCCGGGGAGGA	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2201G>A	11.37:g.68855363G>A	ENSP00000294309:p.Gly734Glu	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	61	5	NM_139075	0	0	4	4	0	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	515	0.2358058608058608	23	0.046747967479674794	98	0.27071823204419887	119	0.20804195804195805	275	0.3627968337730871	G	0.005	-2.162036	0.00318	0.105909	0.383326	ENSG00000162341	ENST00000294309;ENST00000542467	D;D	0.96830	-4.07;-4.14	4.12	-3.6	0.04570	.	0.542623	0.16118	N	0.228770	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.38520	-0.9657	9	0.02654	T	1	-0.834	3.6019	0.08028	0.2148:0.4832:0.211:0.091	rs3829241;rs17399449;rs17855775;rs57492255;rs3829241	552;734	E7ETX0;Q8NHX9	.;TPC2_HUMAN	E	734;552	ENSP00000294309:G734E;ENSP00000445551:G552E	ENSP00000294309:G734E	G	+	2	0	TPCN2	68611939	0.575000	0.26692	0.027000	0.17364	0.018000	0.09664	1.094000	0.30951	-0.426000	0.07360	-0.672000	0.03802	GGG	G|0.756;A|0.244		0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		A	68855363	G	A	68855363	3	1	23	1	0	0	0	0	1	0	0	0	16444	1232	43	3	2299	3	TPCN2	11	68855363	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	63918642	68855363	66151153	46	4037											
MMP8	4317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	102595542	102595542	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggccttggaaatctgCacatggagtaagagcagaaa	13	6	1	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:102595542C>A	ENST00000236826.3	-	1	143	c.45G>T	c.(43-45)gtG>gtT	p.V15V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	15					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)	TGGAAATCTGCACATGGAGTA	0.413																																					p.V15V		.											.	MMP8-229	0			c.G45T						.						163	180	174					11																	102595542		2203	4299	6502	SO:0001819	synonymous_variant	4317	exon1			AATCTGCACATGG	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.45G>T	11.37:g.102595542C>A		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	99	16	NM_002424	0	0	0	0	0	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1																																																																																			.		0.413	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102595542	C	A	102595542	2	1	23	1	0	0	0	0	0	0	0	1	9706	697	25	3		3	MMP8	11	102595542	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	33740179	102595542	32410974	47	4038											
FAM55D	54827	ucsc.edu;bcgsc.ca	37	chr11	114442103	114442103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcaagggataacaatAtttttgccactggatgttga	8	7	1	1	rs550897	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:114442103A>G	ENST00000375478.3	-	6	1372	c.1192T>C	c.(1192-1194)Tat>Cat	p.Y398H	NXPE4_ENST00000424261.2_Missense_Mutation_p.Y114H	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	398			Y -> H (in dbSNP:rs550897). {ECO:0000269|PubMed:15375555}.			extracellular vesicular exosome (GO:0070062)											GGATAACAATATTTTTGCCAC	0.423													G|||	3275	0.653954	0.9054	0.5605	5008	,	,		19012	0.6746		0.4682	False		,,,				2504	0.5501				p.Y398H		.											.	.	0			c.T1192C						.	G	HIS/TYR,HIS/TYR	3195,621		1345,505,58	212	190	197		1192,340	4.5	0.2	11	dbSNP_83	197	4029,4229		963,2103,1063	yes	missense,missense	FAM55D	NM_001077639.1,NM_017678.2	83,83	2308,2608,1121	GG,GA,AA		48.7891,16.2736,40.169	benign,benign	398/545,114/261	114442103	7224,4850	1908	4129	6037	SO:0001583	missense	54827	exon6			AACAATATTTTTG	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1192T>C	11.37:g.114442103A>G	ENSP00000364627:p.Tyr398His	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	58	6	NM_001077639	0	0	0	0	0	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	1352	0.6190476190476191	436	0.8861788617886179	191	0.5276243093922652	381	0.666083916083916	344	0.45382585751978893	G	1.074	-0.668989	0.03403	0.837264	0.487891	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.10960	2.82;2.82	5.44	4.54	0.55810	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00003	-3.415	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.02654	T	1	.	11.2986	0.49292	0.1497:0.0:0.8503:0.0	rs550897;rs52827494;rs58118885;rs550897	398	Q6UWF7	FA55D_HUMAN	H	114;398	ENSP00000401503:Y114H;ENSP00000364627:Y398H	ENSP00000364627:Y398H	Y	-	1	0	FAM55D	113947313	0.999000	0.42202	0.201000	0.23476	0.807000	0.45602	4.178000	0.58284	0.804000	0.34136	-0.166000	0.13349	TAT	T|0.145;G|0.383		0.423	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		G	114442103	A	G	114442103	3	3	23	1	0	0	0	0	1	0	0	0	5609	449	16	4	446	4	FAM55D	11	114442103	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	11846561	114442103	20564413	48	4039											
PCSK7	9159	ucsc.edu;bcgsc.ca	37	chr11	117077034	117077034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcatgtagtaaacAgtccagaagacggtgaaaca	9	9	0	3	rs28590104	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:117077034A>G	ENST00000320934.3	-	17	2667	c.2037T>C	c.(2035-2037)acT>acC	p.T679T	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	679					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTAGTAAACAGTCCAGAAGA	0.552			T	IGH@	MLCLS								G|||	2816	0.5623	0.6989	0.4308	5008	,	,		20516	0.6538		0.3091	False		,,,				2504	0.637				p.T679T		.		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	.	PCSK7-658	0			c.T2037C						.						47	54	51					11																	117077034		2201	4296	6497	SO:0001819	synonymous_variant	9159	exon17			GTAAACAGTCCAG	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2037T>C	11.37:g.117077034A>G		Somatic	63	2		WXS	Illumina GAIIx	Phase_I	50	7	NM_004716	0	0	12	12	0	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	CCDS8382.1																																																																																			A|0.563;G|0.437		0.552	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		G	117077034	A	G	117077034	2	3	23	1	0	0	0	0	0	0	0	1	11644	175	7	4		4	PCSK7	11	117077034	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	2634931	117077034	17929482	49	4040											
CEP164	22897	bcgsc.ca	37	chr11	117266312	117266312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcacagaaggagcacaCccacctgttgcagtcaaacc	11	13	1	1	rs2305830	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr11:117266312C>G	ENST00000278935.3	+	24	3110	c.2963C>G	c.(2962-2964)aCc>aGc	p.T988S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	988			T -> S (in dbSNP:rs2305830). {ECO:0000269|PubMed:17974005}.		cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAGCACACCCACCTGTTG	0.567													C|||	1392	0.277955	0.267	0.2089	5008	,	,		18904	0.3046		0.3211	False		,,,				2504	0.2699				p.T991S		.											.	CEP164-69	0			c.C2972G						.	C	SER/THR	1176,3226	411.3+/-335.7	155,866,1180	56	57	57		2963	0.9	0	11	dbSNP_100	57	2658,5934	425.8+/-355.1	405,1848,2043	yes	missense	CEP164	NM_014956.4	58	560,2714,3223	GG,GC,CC		30.9358,26.7151,29.5059	benign	988/1461	117266312	3834,9160	2201	4296	6497	SO:0001583	missense	22897	exon23			AGCACACCCACCT	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2963C>G	11.37:g.117266312C>G	ENSP00000278935:p.Thr988Ser	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	116	8	NM_001271933	0	0	6	6	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	635	0.2907509157509158	139	0.28252032520325204	87	0.24033149171270718	168	0.2937062937062937	241	0.3179419525065963	C	10.78	1.445822	0.25987	0.267151	0.309358	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.27104	1.69	5.02	0.953	0.19590	.	0.702415	0.12990	N	0.422568	T	0.00012	0.0000	L	0.50919	1.6	0.80722	P	0.0	B;B;B;B	0.10296	0.002;0.003;0.003;0.003	B;B;B;B	0.10450	0.002;0.005;0.005;0.005	T	0.40664	-0.9551	9	0.29301	T	0.29	-0.0052	3.8141	0.08808	0.1203:0.3898:0.353:0.1368	rs2305830;rs17500832;rs52823446;rs2305830	962;762;988;991	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	S	988;962	ENSP00000278935:T988S	ENSP00000278935:T988S	T	+	2	0	CEP164	116771522	0.000000	0.05858	0.003000	0.11579	0.953000	0.61014	-0.116000	0.10724	-0.075000	0.12798	0.491000	0.48974	ACC	C|0.710;G|0.290		0.567	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		G	117266312	C	G	117266312	3	3	23	1	0	0	0	0	1	0	0	0	3256	507	18	3	3049	3	CEP164	11	117266312	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	189278	117266312	17740204	50	4041											
GRIN2B	2904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	13716624	13716624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgccgtgtttgtcgcccGtcccgtgcttgatgtgagac	12	14	0	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:13716624G>A	ENST00000609686.1	-	13	3757	c.3548C>T	c.(3547-3549)aCg>aTg	p.T1183M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1183					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTGTCGCCCGTCCCGTGCTT	0.622																																					p.T1183M		.											.	GRIN2B-231	0			c.C3548T						.						100	93	95					12																	13716624		2203	4300	6503	SO:0001583	missense	2904	exon13			TCGCCCGTCCCGT		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3548C>T	12.37:g.13716624G>A	ENSP00000477455:p.Thr1183Met	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	107	47	NM_000834	0	0	0	0	0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	0.835	-0.743773	0.03088	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	4.38	4.38	0.52667	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.914251	0.09542	N	0.788189	T	0.11239	0.0274	N	0.14661	0.345	0.09310	N	0.999995	D	0.56521	0.976	P	0.46975	0.533	T	0.38329	-0.9666	10	0.46703	T	0.11	.	15.4982	0.75673	0.0:0.0:1.0:0.0	.	1183	Q13224	NMDE2_HUMAN	M	1183	ENSP00000279593:T1183M	ENSP00000279593:T1183M	T	-	2	0	GRIN2B	13607891	0.053000	0.20554	0.023000	0.16930	0.006000	0.05464	2.667000	0.46808	2.167000	0.68274	0.591000	0.81541	ACG	.		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13716624	G	A	13716624	3	1	23	1	0	0	0	0	1	0	0	0	6807	1145	40	1	910	1	GRIN2B	12	13716624	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		13716624	120135271	51	4042											
DDX11	1663	ucsc.edu	37	chr12	31244689	31244689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagatgctgctgcatgcgGccactcggcaggccgcgggc	15	14	1	1	rs397842879		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:31244689G>A	ENST00000407793.2	+	10	1377	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	DDX11_ENST00000542838.1_Missense_Mutation_p.A376T|DDX11_ENST00000545668.1_Missense_Mutation_p.A376T|DDX11_ENST00000350437.4_Missense_Mutation_p.A376T|DDX11_ENST00000228264.6_Missense_Mutation_p.A350T|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	376	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)					GCTGCATGCGGCCACTCGGCA	0.672										Multiple Myeloma(12;0.14)																											p.A376T		.											.	DDX11-229	0			c.G1126A						.						26	25	26					12																	31244689		2194	4289	6483	SO:0001583	missense	1663	exon10			CATGCGGCCACTC	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.1126G>A	12.37:g.31244689G>A	ENSP00000384703:p.Ala376Thr	Somatic	272	67		WXS	Illumina GAIIx	Phase_I	947	134	NM_030653	0	0	3	6	3	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751761	0.15778	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.71461	-0.57;1.0;-0.57;1.0;1.0	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.324166	0.32703	N	0.005754	T	0.68109	0.2965	L	0.55834	1.745	0.80722	D	1	P;P;D;P;P	0.59767	0.633;0.814;0.986;0.814;0.905	P;B;P;B;B	0.49799	0.507;0.313;0.622;0.294;0.392	T	0.69300	-0.5181	10	0.56958	D	0.05	.	7.318	0.26511	0.0:0.0:0.738:0.262	.	101;350;376;376;376	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	T	376;376;101;350;376;376	ENSP00000443426:A376T;ENSP00000384703:A376T;ENSP00000228264:A350T;ENSP00000440402:A376T;ENSP00000309965:A376T	ENSP00000228264:A350T	A	+	1	0	DDX11	31135956	0.935000	0.31712	0.573000	0.28510	0.048000	0.14542	1.665000	0.37449	1.535000	0.49220	0.505000	0.49811	GCC	.		0.672	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		A	31244689	G	A	31244689	3	1	23	1	0	0	0	0	1	0	0	0	4352	1203	42	3	1160	3	DDX11	12	31244689	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	17528065	31244689	102607206	52	4043											
KRT83	3889	broad.mit.edu	37	chr12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgggcatcactgaggGccgcctcaccctgctgctca	12	16	3	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597																																					p.A365D	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	.											.	KRT83-91	2	Substitution - Missense(2)	prostate(1)|endometrium(1)	c.C1094A						.						36	36	36					12																	52709845		2203	4299	6502	SO:0001583	missense	3889	exon7			CTGAGGGCCGCCT	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1094C>A	12.37:g.52709845G>T	ENSP00000293670:p.Ala365Asp	Somatic	51	3		WXS	Illumina GAIIx	Phase_I	130	13	NM_002282	0	0	0	0	0	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319489	0.60524	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	3.84	3.84	0.44239	Filament (1);	0.168584	0.27749	U	0.018016	D	0.83830	0.5339	M	0.72894	2.215	0.40384	D	0.97947	D	0.55605	0.972	D	0.64877	0.93	D	0.85501	0.1191	9	.	.	.	.	16.1279	0.81406	0.0:0.0:1.0:0.0	.	365	P78385	KRT83_HUMAN	D	365	ENSP00000293670:A365D	.	A	-	2	0	KRT83	50996112	1.000000	0.71417	0.702000	0.30337	0.425000	0.31504	7.806000	0.86020	1.867000	0.54127	0.563000	0.77884	GCC	.		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		T	52709845	G	T	52709845	3	4	23	1	0	0	0	0	1	0	0	0	8524	1203	42	3	399	3	KRT83	12	52709845	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	21465156	52709845	81142050	53	4044											
OR6C2	341416	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	55846284	55846284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cattacctacaatgcttgtgCcagtcaaatattctttgtta	5	9	2	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:55846284C>G	ENST00000322678.1	+	1	287	c.287C>G	c.(286-288)gCc>gGc	p.A96G	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AATGCTTGTGCCAGTCAAATA	0.388																																					p.A96G		.											.	OR6C2-70	0			c.C287G						.						147	146	146					12																	55846284		2203	4299	6502	SO:0001583	missense	341416	exon1			CTTGTGCCAGTCA	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.287C>G	12.37:g.55846284C>G	ENSP00000323606:p.Ala96Gly	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	78	27	NM_054105	0	0	0	0	0		Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806244	0.31961	.	.	ENSG00000179695	ENST00000322678	T	0.19938	2.11	5.42	0.432	0.16529	GPCR, rhodopsin-like superfamily (1);	0.449907	0.21108	N	0.080040	T	0.15262	0.0368	L	0.42245	1.32	0.09310	N	1	B	0.16603	0.018	B	0.22753	0.041	T	0.17868	-1.0355	10	0.42905	T	0.14	.	5.5554	0.17113	0.0:0.4971:0.1314:0.3715	.	96	Q9NZP2	OR6C2_HUMAN	G	96	ENSP00000323606:A96G	ENSP00000323606:A96G	A	+	2	0	OR6C2	54132551	0.000000	0.05858	0.023000	0.16930	0.076000	0.17211	-0.103000	0.10940	0.130000	0.18549	0.609000	0.83330	GCC	.		0.388	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		G	55846284	C	G	55846284	3	3	23	1	0	0	0	0	1	0	0	0	11230	739	26	3	289	3	OR6C2	12	55846284	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	3136439	55846284	78005611	54	4045											
EEA1	8411	broad.mit.edu;bcgsc.ca	37	chr12	93226501	93226501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatcttgactgaagctgTtgacaatctaggtctttttg	9	7	3	3			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:93226501T>C	ENST00000322349.8	-	11	1305	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	347					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						ACTGAAGCTGTTGACAATCTA	0.353																																					p.Q347Q		.											.	EEA1-229	0			c.A1041G						.						141	131	135					12																	93226501		2203	4299	6502	SO:0001819	synonymous_variant	8411	exon11			AAGCTGTTGACAA	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.1041A>G	12.37:g.93226501T>C		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	75	6	NM_003566	0	0	13	13	0	Q14221	Silent	SNP	ENST00000322349.8	37	CCDS31874.1																																																																																			.		0.353	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93226501	T	C	93226501	2	2	23	1	0	0	0	0	0	0	0	1	4935	1722	60	4		4	EEA1	12	93226501	Silent	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	37380217	93226501	40625394	55	4046											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	23	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	3110682	96337183	37514712	56	4047											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	11	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	23	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	42	96337225	37514670	57	4048											
VSIG10	54621	bcgsc.ca	37	chr12	118506186	118506186	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaagagcttaccttgAagatcctggaatccatttcc	8	9	0	3	rs67405503	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:118506186A>T	ENST00000359236.5	-	8	1839	c.1563T>A	c.(1561-1563)ctT>ctA	p.L521L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	521						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTACCTTGAAGATCCTGGA	0.448													T|||	2110	0.421326	0.4516	0.4582	5008	,	,		18101	0.372		0.4036	False		,,,				2504	0.4233				p.L521L		.											.	.	0			c.T1563A						.	T		1649,2181		344,961,610	187	183	184		1563	-8.2	0.3	12	dbSNP_130	184	3170,5072		618,1934,1569	no	coding-synonymous	VSIG10	NM_019086.5		962,2895,2179	TT,TA,AA		38.4615,43.0548,39.9188		521/541	118506186	4819,7253	1915	4121	6036	SO:0001819	synonymous_variant	54621	exon8			ACCTTGAAGATCC		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1563T>A	12.37:g.118506186A>T		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	263	10	NM_019086	0	0	0	0	0	Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																			A|0.602;T|0.398		0.448	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		T	118506186	A	T	118506186	2	4	23	1	0	0	0	0	0	0	0	1	17272	233	9	5		5	VSIG10	12	118506186	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	22168961	118506186	15345709	58	4049											
TAOK3	51347	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	118619354	118619354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccgcatccgcttataaCctgacatctgttcccgcaac	8	16	1	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:118619354C>T	ENST00000392533.3	-	15	1878	c.1388G>A	c.(1387-1389)gGt>gAt	p.G463D	TAOK3_ENST00000419821.2_Missense_Mutation_p.G463D|TAOK3_ENST00000537952.1_Missense_Mutation_p.G3D	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	463					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)					CCGCTTATAACCTGACATCTG	0.532											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G463D		.											.	TAOK3-933	0			c.G1388A						.						114	97	103					12																	118619354		2203	4300	6503	SO:0001583	missense	51347	exon15			TTATAACCTGACA	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.1388G>A	12.37:g.118619354C>T	ENSP00000376317:p.Gly463Asp	Somatic	106	1	1489	WXS	Illumina GAIIx	Phase_I	237	42	NM_016281	0	0	42	49	7	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420039	0.96111	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811;ENST00000540561;ENST00000537822	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69335	-0.5172	10	0.87932	D	0	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	463	Q9H2K8	TAOK3_HUMAN	D	463;463;3;83;3;3	ENSP00000416374:G463D;ENSP00000376317:G463D;ENSP00000443834:G3D;ENSP00000443487:G3D	ENSP00000352863:G83D	G	-	2	0	TAOK3	117103737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.827000	0.97445	0.650000	0.86243	GGT	.		0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		T	118619354	C	T	118619354	3	4	23	1	0	0	0	0	1	0	0	0	15596	507	18	3	1336	3	TAOK3	12	118619354	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	113168	118619354	15232541	59	4050											
LRRC43	254050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	122684857	122684857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctggcggggaccaccGtgaccatcgtggaggagaag	16	11	0	2	rs372715448		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr12:122684857G>A	ENST00000339777.4	+	8	1499	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	LRRC43_ENST00000425921.1_Missense_Mutation_p.V306M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	491										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)		GGGGACCACCGTGACCATCGT	0.642																																					p.V491M		.											.	LRRC43-135	0			c.G1471A						.	G	MET/VAL,MET/VAL	1,4261		0,1,2130	69	77	74		1471,916	3	0.8	12		74	0,8454		0,0,4227	no	missense,missense	LRRC43	NM_001098519.1,NM_152759.4	21,21	0,1,6357	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging,probably-damaging	491/657,306/472	122684857	1,12715	2131	4227	6358	SO:0001583	missense	254050	exon8			ACCACCGTGACCA	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.1471G>A	12.37:g.122684857G>A	ENSP00000344233:p.Val491Met	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	193	62	NM_001098519	0	0	0	0	0	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679622	0.47886	2.35E-4	0.0	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.61742	0.08;0.52	4.85	2.96	0.34315	.	0.308811	0.26112	N	0.026269	T	0.71247	0.3317	M	0.76002	2.32	0.21020	N	0.999807	D	0.89917	1.0	D	0.76575	0.988	T	0.60214	-0.7307	10	0.44086	T	0.13	-41.7047	9.872	0.41180	0.1742:0.0:0.8258:0.0	.	491	Q8N309	LRC43_HUMAN	M	491;362;306	ENSP00000344233:V491M;ENSP00000416628:V306M	ENSP00000289014:V362M	V	+	1	0	LRRC43	121250810	0.985000	0.35326	0.754000	0.31244	0.332000	0.28634	1.980000	0.40618	1.158000	0.42547	0.563000	0.77884	GTG	.		0.642	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		A	122684857	G	A	122684857	3	1	23	1	0	0	0	0	1	0	0	0	9036	1145	40	1	1501	1	LRRC43	12	122684857	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	4065503	122684857	11167038	60	4051											
SACS	26278	bcgsc.ca	37	chr13	23912220	23912220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattagctccccactagtgGccaggtcccgtaagacactc	8	16	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr13:23912220G>T	ENST00000382292.3	-	9	6068	c.5795C>A	c.(5794-5796)gCc>gAc	p.A1932D	SACS_ENST00000382298.3_Missense_Mutation_p.A1932D|SACS_ENST00000402364.1_Missense_Mutation_p.A1182D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1932					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)		CCCACTAGTGGCCAGGTCCCG	0.398																																					p.A1932D		.											.	SACS-298	0			c.C5795A						.						121	105	111					13																	23912220		2203	4300	6503	SO:0001583	missense	26278	exon10			CTAGTGGCCAGGT	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.5795C>A	13.37:g.23912220G>T	ENSP00000371729:p.Ala1932Asp	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_014363	0	0	0	0	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333119	0.60853	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88124	-2.18;-2.34;-2.18	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86239	0.5885	L	0.59436	1.845	0.54753	D	0.999985	B	0.27380	0.177	B	0.26310	0.068	T	0.82196	-0.0577	10	0.35671	T	0.21	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	1932	Q9NZJ4	SACS_HUMAN	D	1932;1182;1932	ENSP00000371729:A1932D;ENSP00000385844:A1182D;ENSP00000371735:A1932D	ENSP00000371729:A1932D	A	-	2	0	SACS	22810220	1.000000	0.71417	0.954000	0.39281	0.240000	0.25518	6.421000	0.73353	2.712000	0.92718	0.591000	0.81541	GCC	.		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23912220	G	T	23912220	3	4	23	1	0	0	0	0	1	0	0	0	13849	1203	42	3	7948	3	SACS	13	23912220	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		23912220	91257658	61	4052											
DGKH	160851	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	42761266	42761289	+	Splice_Site	DEL	TGATGCCGTGGCCAGTAAAGTAAG	TGATGCCGTGGCCAGTAAAGTAAG	-													ttggaaaatgccgttgtagcTgatgccgtggccagtaaagt					rs370078018|rs141644135	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	TGATGCCGTGGCCAGTAAAGTAAG	TGATGCCGTGGCCAGTAAAGTAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr13:42761266_42761289delTGATGCCGTGGCCAGTAAAGTAAG	ENST00000337343.4	+	14	1641_1659	c.1620_1638delTGATGCCGTGGCCAGTAAAGTAAG	c.(1618-1638)gctgatgccgtggccagtaaa>gc	p.ADAVASK540del	DGKH_ENST00000540693.1_Splice_Site_p.ADAVASK540del|DGKH_ENST00000538674.1_Splice_Site_p.ADAVASK295del|DGKH_ENST00000261491.5_Splice_Site_p.ADAVASK540del|DGKH_ENST00000379274.2_Splice_Site_p.ADAVASK404del|DGKH_ENST00000536612.1_Splice_Site_p.ADAVASK404del|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	540					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCGTTGTAGCTGATGCCGTGGCCAGTAAAGTAAGAGGGGACTCT	0.42																																					p.540_546del		.											.	DGKH-652	1	Substitution - Missense(1)	prostate(1)	c.1620_1638del						.																																			SO:0001630	splice_region_variant	160851	exon15			TGTAGCTGATGCC	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1638+1TGATGCCGTGGCCAGTAAAGTAAG>-	13.37:g.42761266_42761289delTGATGCCGTGGCCAGTAAAGTAAG		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	35	5	NM_001204504	0	0	0	0	0	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Frame_Shift_Del	DEL	ENST00000337343.4	37	CCDS9381.1																																																																																			.		0.42	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	In_Frame_Del	-	42761289	TGATGCCGTGGCCAGTAAAGTAAG	-	42761266	8	5	23	1	0	1	0	1	0	0	1	0	4484	1567	55	0	1674	0	DGKH	13	42761266	Splice_Site	DEL	TGATGCCGTGGCCAGTAAAGTAAG	TCGA-OR-A5JW-01A-11D-A29I-10	18849046	42761266	72408612	62	4053											
COG3	83548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	46050394	46050394	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgcccattgaactgacttCagtagtgcctgaatctacag	8	11	2	3			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr13:46050394C>T	ENST00000349995.5	+	2	345	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	78					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GAACTGACTTCAGTAGTGCCT	0.403																																					p.S78L	Ovarian(150;1048 1859 18083 21577 42700)	.											.	COG3-154	0			c.C233T						.						106	100	102					13																	46050394		2203	4300	6503	SO:0001583	missense	83548	exon2			TGACTTCAGTAGT	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.233C>T	13.37:g.46050394C>T	ENSP00000258654:p.Ser78Leu	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	43	28	NM_031431	0	0	0	8	8	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522810	0.44866	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.44	5.44	0.79542	.	0.200012	0.42548	D	0.000699	T	0.28366	0.0701	N	0.14661	0.345	0.39456	D	0.967485	B;P;B	0.38395	0.049;0.629;0.178	B;B;B	0.33254	0.016;0.16;0.058	T	0.13415	-1.0510	10	0.40728	T	0.16	-3.2869	18.6011	0.91248	0.0:1.0:0.0:0.0	.	78;78;78	Q96JB2;B4DH72;Q96JB2-2	COG3_HUMAN;.;.	L	78	ENSP00000258654:S78L	ENSP00000258654:S78L	S	+	2	0	COG3	44948395	1.000000	0.71417	0.014000	0.15608	0.492000	0.33523	5.557000	0.67313	2.702000	0.92279	0.655000	0.94253	TCA	.		0.403	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			T	46050394	C	T	46050394	3	4	23	1	0	0	0	0	1	0	0	0	3666	838	29	3	239	3	COG3	13	46050394	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	3289128	46050394	69119484	63	4054											
FBXO33	254170	hgsc.bcm.edu	37	chr14	39901157	39901157	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatcagctcgctgggcagCgacgcagcgcccgccgcctg	14	17	1	0	rs61999077	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr14:39901157C>A	ENST00000298097.7	-	1	547	c.210G>T	c.(208-210)tcG>tcT	p.S70S	FBXO33_ENST00000554190.1_5'Flank	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	70	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CGCTGGGCAGCGACGCAGCGC	0.756													C|||	393	0.0784744	0.0166	0.0591	5008	,	,		7195	0.0714		0.0944	False		,,,				2504	0.1667				p.S70S		.											.	FBXO33-658	0			c.G210T						.	C		59,2571		1,57,1257	1	1	1		210	3	1	14	dbSNP_129	1	290,5020		2,286,2367	no	coding-synonymous	FBXO33	NM_203301.3		3,343,3624	AA,AC,CC		5.4614,2.2433,4.3955		70/556	39901157	349,7591	1315	2655	3970	SO:0001819	synonymous_variant	254170	exon1			GGGCAGCGACGCA	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.210G>T	14.37:g.39901157C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_203301	0	0	0	1	1	Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	CCDS9677.1																																																																																			C|0.935;A|0.065		0.756	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			A	39901157	C	A	39901157	2	1	23	1	0	0	0	0	0	0	0	1	5765	755	27	2		2	FBXO33	14	39901157	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		39901157	67448383	64	4055											
DDHD1	80821	hgsc.bcm.edu	37	chr14	53619681	53619681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcgtccgggtccccgcCgggcaggtgctcgaagcagc	16	16	0	0	rs61985140	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr14:53619681C>T	ENST00000323669.5	-	1	135	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DDHD1_ENST00000395606.1_Missense_Mutation_p.G46S|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.G46S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	46					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)					GGGTCCCCGCCGGGCAGGTGC	0.761													C|||	25	0.00499201	0.0015	0.0058	5008	,	,		9768	0		0.0149	False		,,,				2504	0.0041				p.G46S		.											.	DDHD1-92	0			c.G136A						.	C	SER/GLY,SER/GLY,SER/GLY	18,4236		0,18,2109	7	10	9		136,136,136	1.6	1	14	dbSNP_129	9	138,7980		1,136,3922	no	missense,missense,missense	DDHD1	NM_001160147.1,NM_001160148.1,NM_030637.2	56,56,56	1,154,6031	TT,TC,CC		1.6999,0.4231,1.2609	benign,benign,benign	46/880,46/901,46/873	53619681	156,12216	2127	4059	6186	SO:0001583	missense	80821	exon1			CCCCGCCGGGCAG	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.136G>A	14.37:g.53619681C>T	ENSP00000327104:p.Gly46Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	22	NM_001160147	0	0	0	1	1	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	15	0.006868131868131868	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	11	0.014511873350923483	C	8.250	0.808901	0.16467	0.004231	0.016999	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.55	1.64	0.23874	.	0.341002	0.26297	N	0.025187	T	0.18635	0.0447	L	0.40543	1.245	0.31479	N	0.667402	B;B;B	0.13145	0.007;0.004;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.14559	-1.0468	9	0.33141	T	0.24	-0.5603	6.7849	0.23668	0.0:0.5559:0.3402:0.1039	rs61985140	46;46;46	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	46	.	ENSP00000327104:G46S	G	-	1	0	DDHD1	52689431	0.000000	0.05858	0.969000	0.41365	0.297000	0.27493	0.385000	0.20685	0.176000	0.19873	-0.479000	0.04858	GGC	C|0.993;T|0.007		0.761	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			T	53619681	C	T	53619681	3	4	23	1	0	0	0	0	1	0	0	0	4335	652	23	1	2643	1	DDHD1	14	53619681	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	13718524	53619681	53729859	65	4056											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001823	0	0	0	7	7	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	23	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	50368499	103988180	3361360	66	4057											
C15orf55	256646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	34648579	34648579	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaaggctgccagggactGggctccaggggcaacatttc	15	11	0	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:34648579G>T	ENST00000333756.4	+	7	2441	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	NUTM1_ENST00000438749.3_Silent_p.L780L|NUTM1_ENST00000537011.1_Silent_p.L790L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	762						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCAGGGACTGGGCTCCAGGG	0.547																																					p.L762L		.											.	C15orf55-206	0			c.G2286T						.						69	69	69					15																	34648579		2201	4298	6499	SO:0001819	synonymous_variant	256646	exon7			GGGACTGGGCTCC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2286G>T	15.37:g.34648579G>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	151	65	NM_175741	0	0	0	0	0	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	CCDS32190.1																																																																																			.		0.547	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		T	34648579	G	T	34648579	2	4	23	1	0	0	0	0	0	0	0	1	1808	1335	47	3		3	C15orf55	15	34648579	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		34648579	67882813	67	4058											
CASC5	57082	bcgsc.ca	37	chr15	40915045	40915045	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaaaattgataagacTattgtattttcagaagacga	8	5	1	4	rs8041534	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:40915045T>G	ENST00000346991.5	+	11	3051	c.2661T>G	c.(2659-2661)acT>acG	p.T887T	CASC5_ENST00000399668.2_Silent_p.T861T|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	887	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTGATAAGACTATTGTATTTT	0.318													T|||	1759	0.351238	0.348	0.3285	5008	,	,		21082	0.254		0.3976	False		,,,				2504	0.4243				p.T887T		.											.	CASC5-660	0			c.T2661G						.	T	,	1342,2304		265,812,746	72	69	70		2583,2661	4	0.9	15	dbSNP_116	70	3293,4849		676,1941,1454	no	coding-synonymous,coding-synonymous	CASC5	NM_144508.3,NM_170589.3	,	941,2753,2200	GG,GT,TT		40.4446,36.8075,39.3196	,	861/2317,887/2343	40915045	4635,7153	1823	4071	5894	SO:0001819	synonymous_variant	57082	exon11			TAAGACTATTGTA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2661T>G	15.37:g.40915045T>G		Somatic	173	1		WXS	Illumina GAIIx	Phase_I	171	7	NM_170589	0	0	0	0	0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																			T|0.633;G|0.367		0.318	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40915045	T	G	40915045	2	3	23	1	0	0	0	0	0	0	0	1	2670	1509	53	5		5	CASC5	15	40915045	Silent	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	6266466	40915045	61616347	68	4059											
RAD51	5888	broad.mit.edu	37	chr15	41020953	41020953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggataatgtagcatatgCtcgagcgttcaacacagacc	9	11	1	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:41020953C>A	ENST00000267868.3	+	7	843	c.575C>A	c.(574-576)gCt>gAt	p.A192D	RAD51_ENST00000532743.1_Missense_Mutation_p.A193D|RAD51_ENST00000423169.2_Missense_Mutation_p.A192D|RAD51_ENST00000382643.3_Missense_Mutation_p.A193D|RAD51_ENST00000557850.1_Missense_Mutation_p.A95D	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	192	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-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;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GTAGCATATGCTCGAGCGTTC	0.453								Homologous recombination																													p.A193D		.											.	RAD51-563	0			c.C578A						.						270	246	254					15																	41020953		2203	4300	6503	SO:0001583	missense	5888	exon7			CATATGCTCGAGC	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.575C>A	15.37:g.41020953C>A	ENSP00000267868:p.Ala192Asp	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	88	5	NM_133487	0	0	3	3	0	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411158	0.96072	.	.	ENSG00000051180	ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.41	5.41	0.78517	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83321	0.5229	H	0.97491	4.015	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.85130	0.997;0.985;0.985	D	0.89389	0.3687	10	0.87932	D	0	-11.1888	19.163	0.93543	0.0:1.0:0.0:0.0	.	192;193;192	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	D	192;95;192;193;193	ENSP00000406602:A192D;ENSP00000267868:A192D;ENSP00000433924:A193D;ENSP00000372088:A193D	ENSP00000267868:A192D	A	+	2	0	RAD51	38808245	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.709000	0.84645	2.525000	0.85131	0.591000	0.81541	GCT	.		0.453	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		A	41020953	C	A	41020953	3	1	23	1	0	0	0	0	1	0	0	0	13030	797	28	3	722	3	RAD51	15	41020953	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	105908	41020953	61510439	69	4060											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_171846	0	0	0	1	1	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	23	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	22393130	63414083	39117309	70	4061											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369531	65369531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgttccacagtgccgcGctcttcatctgcgacggcga	12	14	3	0	rs2946642	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2	2	2		378	-0.2	1	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369531	G	T	65369531	2	4	23	1	0	0	0	0	0	0	0	1	8019	1074	38	2		2	KBTBD13	15	65369531	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	1955448	65369531	37161861	71	4062											
CHRNA3	1136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	78894294	78894294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtacagcgagtatgtgatGtcggggtagatctcctcgca	13	8	1	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr15:78894294G>T	ENST00000326828.5	-	5	1074	c.690C>A	c.(688-690)gaC>gaA	p.D230E	CHRNA3_ENST00000348639.3_Missense_Mutation_p.D230E	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	230					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	AGTATGTGATGTCGGGGTAGA	0.547																																					p.D230E		.											.	CHRNA3-515	0			c.C690A						.						215	177	190					15																	78894294		2196	4293	6489	SO:0001583	missense	1136	exon5			TGTGATGTCGGGG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.690C>A	15.37:g.78894294G>T	ENSP00000315602:p.Asp230Glu	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	267	93	NM_000743	0	0	3	3	0	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914791	0.72983	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.79247	-1.25;-1.25	5.91	4.03	0.46877	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.76002	2.32	0.51012	D	0.999904	D;D	0.71674	0.998;0.998	D;D	0.97110	1.0;0.999	D	0.86535	0.1824	10	0.87932	D	0	.	9.6474	0.39877	0.2086:0.0:0.7914:0.0	.	230;230	P32297;P32297-3	ACHA3_HUMAN;.	E	230;230;94	ENSP00000267951:D230E;ENSP00000315602:D230E	ENSP00000315602:D230E	D	-	3	2	CHRNA3	76681349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.874000	0.39568	1.500000	0.48636	0.655000	0.94253	GAC	.		0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			T	78894294	G	T	78894294	3	4	23	1	0	0	0	0	1	0	0	0	3391	1368	48	3	920	3	CHRNA3	15	78894294	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	13524763	78894294	23637098	72	4063											
NARFL	64428	hgsc.bcm.edu	37	chr16	790926	790926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccggcccacctgagaCggcccgatgaagtcatccag	12	16	1	2	rs377081357		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:790926C>T	ENST00000251588.2	-	1	76	c.60G>A	c.(58-60)ccG>ccA	p.P20P	NARFL_ENST00000301694.5_Silent_p.P20P|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	20					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCACCTGAGACGGCCCGATGA	0.716																																					p.P20P		.											.	NARFL-90	0			c.G60A						.	C		1,3583		0,1,1791	4	6	5		60	1.3	1	16		5	28,6848		0,28,3410	no	coding-synonymous	NARFL	NM_022493.1		0,29,5201	TT,TC,CC		0.4072,0.0279,0.2772		20/477	790926	29,10431	1792	3438	5230	SO:0001819	synonymous_variant	64428	exon1			CTGAGACGGCCCG	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.60G>A	16.37:g.790926C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	38	23	NM_022493	0	0	0	0	0	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	CCDS10425.1																																																																																			.		0.716	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		T	790926	C	T	790926	2	4	23	1	0	0	0	0	0	0	0	1	10206	523	19	1		1	NARFL	16	790926	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		790926	89563827	73	4064											
C16orf89	146556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	5115841	5115841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagtgtccagcccaggCagtgaggaggaccacagcgg	15	12	1	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:5115841C>T	ENST00000315997.5	-	1	270	c.69G>A	c.(67-69)ctG>ctA	p.L23L	C16orf89_ENST00000472572.3_Silent_p.L23L|C16orf89_ENST00000474471.3_Silent_p.L23L|C16orf89_ENST00000350219.4_Silent_p.L61L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Silent_p.L61L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	23						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCAGCCCAGGCAGTGAGGAGG	0.607																																					p.L23L		.											.	C16orf89-92	0			c.G69A						.						47	53	51					16																	5115841		2118	4248	6366	SO:0001819	synonymous_variant	146556	exon1			CCCAGGCAGTGAG		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.69G>A	16.37:g.5115841C>T		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	250	100	NM_001098514	0	0	0	0	0	B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	CCDS42116.2																																																																																			.		0.607	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		T	5115841	C	T	5115841	2	4	23	1	0	0	0	0	0	0	0	1	1847	697	25	3		3	C16orf89	16	5115841	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	4324915	5115841	85238912	74	4065											
ABCC6	368	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	16256886	16256886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaaactgatcctctggCtttcatctacgcgagcattg	11	11	3	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:16256886C>A	ENST00000205557.7	-	24	3499	c.3470G>T	c.(3469-3471)aGc>aTc	p.S1157I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1157	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GATCCTCTGGCTTTCATCTAC	0.567																																					p.S1157I		.											.	ABCC6-93	0			c.G3470T						.						125	131	129					16																	16256886		2197	4300	6497	SO:0001583	missense	368	exon24			CTCTGGCTTTCAT	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.3470G>T	16.37:g.16256886C>A	ENSP00000205557:p.Ser1157Ile	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	177	76	NM_001171	0	0	1	1	0	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315928	0.60524	.	.	ENSG00000091262	ENST00000205557	D	0.94376	-3.41	5.42	-1.37	0.09056	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.679185	0.12916	U	0.428588	D	0.89598	0.6761	L	0.52011	1.625	0.80722	D	1	P	0.37594	0.601	B	0.40410	0.328	D	0.83760	0.0214	10	0.87932	D	0	.	6.4809	0.22063	0.0:0.1652:0.1568:0.678	.	1157	O95255	MRP6_HUMAN	I	1157	ENSP00000205557:S1157I	ENSP00000205557:S1157I	S	-	2	0	ABCC6	16164387	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	2.112000	0.41892	-0.077000	0.12752	-0.126000	0.14955	AGC	.		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16256886	C	A	16256886	3	1	23	1	0	0	0	0	1	0	0	0	57	797	28	3	1073	3	ABCC6	16	16256886	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	11141045	16256886	74097867	75	4066											
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	21061229	21061229	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggatagatggcatttgcttAcctgcttagccaaggctttg	12	8	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:21061229A>T	ENST00000261383.3	-	30	4347		c.e30+1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCATTTGCTTACCTGCTTAGC	0.532																																					.		.											.	DNAH3-167	0			c.4347+2T>A						.						237	203	214					16																	21061229		2201	4300	6501	SO:0001630	splice_region_variant	55567	exon31			TTGCTTACCTGCT	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.4347+1T>A	16.37:g.21061229A>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	95	39	NM_017539	0	0	0	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Splice_Site	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830295	0.71258	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2879	0.82732	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH3	20968730	1.000000	0.71417	0.977000	0.42913	0.664000	0.39144	6.473000	0.73572	2.242000	0.73789	0.533000	0.62120	.	.		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	Intron	T	21061229	A	T	21061229	5	4	23	1	0	0	0	0	0	0	1	0	4617	405	14	5	8132	5	DNAH3	16	21061229	Splice_Site	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	4804343	21061229	69293524	76	4067											
FBRS	64319	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30677859	30677859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaccatttccggccacctttGagggtgagttgtgtgaggac	14	9	0	3			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:30677859G>C	ENST00000287468.5	+	6	503	c.240G>C	c.(238-240)ttG>ttC	p.L80F	FBRS_ENST00000568722.1_Intron|FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000356166.6_Missense_Mutation_p.L600F	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	80										ovary(1)	1			Colorectal(24;0.103)			GGCCACCTTTGAGGGTGAGTT	0.587																																					p.L80F		.											.	FBRS-23	0			c.G240C						.						83	89	87					16																	30677859		2088	4222	6310	SO:0001583	missense	64319	exon6			ACCTTTGAGGGTG	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.240G>C	16.37:g.30677859G>C	ENSP00000287468:p.Leu80Phe	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	173	57	NM_001105079	0	0	2	4	2	B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37		.	.	.	.	.	.	.	.	.	.	G	17.99	3.523725	0.64747	.	.	ENSG00000156860	ENST00000356166;ENST00000287468	T	0.36520	1.25	4.93	3.97	0.46021	.	0.000000	0.24940	U	0.034383	T	0.46889	0.1416	L	0.39245	1.2	0.80722	D	1	D	0.65815	0.995	D	0.66351	0.943	T	0.42849	-0.9427	10	0.66056	D	0.02	-1.467	10.6428	0.45602	0.0921:0.0:0.9079:0.0	.	80	Q9HAH7	FBRS_HUMAN	F	600;80	ENSP00000348489:L600F	ENSP00000287468:L80F	L	+	3	2	FBRS	30585360	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.129000	0.64739	1.085000	0.41206	0.491000	0.48974	TTG	.		0.587	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		C	30677859	G	C	30677859	3	2	23	1	0	0	0	0	1	0	0	0	5729	1281	45	3	258	3	FBRS	16	30677859	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	9616630	30677859	59676894	77	4068											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	23	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	26884945	57562804	32791949	78	4069											
SLC38A8	146167	bcgsc.ca	37	chr16	84070500	84070500	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgatcaggaagaccaaCgagacctgcggagaaggagc	14	11	1	4	rs1317524	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr16:84070500C>G	ENST00000299709.3	-	2	194	c.195G>C	c.(193-195)tcG>tcC	p.S65S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	65					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAGACCAACGAGACCTGCG	0.657													G|||	2209	0.441094	0.5416	0.3646	5008	,	,		11922	0.5863		0.33	False		,,,				2504	0.3241				p.S65S		.											.	SLC38A8-68	0			c.G195C						.	G		2096,2304	585.5+/-386.3	484,1128,588	47	40	42		195	2	1	16	dbSNP_88	42	2718,5882	667.3+/-402.5	448,1822,2030	no	coding-synonymous	SLC38A8	NM_001080442.1		932,2950,2618	GG,GC,CC		31.6047,47.6364,37.0308		65/436	84070500	4814,8186	2200	4300	6500	SO:0001819	synonymous_variant	146167	exon2			GACCAACGAGACC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.195G>C	16.37:g.84070500C>G		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	165	7	NM_001080442	0	0	0	0	0		Silent	SNP	ENST00000299709.3	37	CCDS32495.1																																																																																			C|0.617;G|0.383		0.657	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		G	84070500	C	G	84070500	2	3	23	1	0	0	0	0	0	0	0	1	14655	523	19	2		2	SLC38A8	16	84070500	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	26507696	84070500	6284253	79	4070											
SGSM2	9905	bcgsc.ca	37	chr17	2275734	2275734	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccggcccccgggggcctcCgcgggcctcaccaaggacgt	15	18	1	0	rs3213712	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:2275734C>G	ENST00000426855.2	+	14	1780	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	SGSM2_ENST00000268989.3_Silent_p.S580S|SGSM2_ENST00000574563.1_Silent_p.S535S|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	535					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGGGGGCCTCCGCGGGCCTCA	0.687													C|||	1288	0.257188	0.5507	0.1124	5008	,	,		12916	0.1478		0.0954	False		,,,				2504	0.2423				p.S580S		.											.	SGSM2-68	0			c.C1740G						.	C	,	1915,2437		438,1039,699	9	13	12		1605,1740	-11.4	0	17	dbSNP_106	12	721,7807		34,653,3577	no	coding-synonymous,coding-synonymous	SGSM2	NM_001098509.1,NM_014853.2	,	472,1692,4276	GG,GC,CC		8.4545,44.0028,20.4658	,	535/1007,580/1052	2275734	2636,10244	2176	4264	6440	SO:0001819	synonymous_variant	9905	exon15			GGCCTCCGCGGGC	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1605C>G	17.37:g.2275734C>G		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	139	8	NM_014853	0	0	3	3	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																			C|0.810;G|0.190		0.687	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		G	2275734	C	G	2275734	2	3	23	1	0	0	0	0	0	0	0	1	14268	639	23	2		2	SGSM2	17	2275734	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		2275734	78919476	80	4071											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	10	9	1	6			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y		.											.	.	0			c.G152A						.						274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	347	32		WXS	Illumina GAIIx	Phase_I	257	22	NM_145301	0	0	3	25	22	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		T	15457087	C	T	15457087	3	4	23	1	0	0	0	0	1	0	0	0	5539	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	13181353	15457087	65738123	81	4072											
SARM1	7448	hgsc.bcm.edu	37	chr17	26699121	26699121	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgtcgggcccacggcGgggcgccgagcggctggcgg	20	15	0	0	rs7212814		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000457710.3_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1	1	1	5008	,	,		9002	1		1	False		,,,				2504	1				p.R23P		.											.	.	0			c.G68C						.						2	2	2					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015077	0	0	0	2	2	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699121	G	C	26699121	1	2	23	0	1	0	0	0	0	0	0	0	13887	1116	39	2		2	SARM1	17	26699121	5'Flank	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	11242034	26699121	54496089	82	4073											
NF1	4763	hgsc.bcm.edu;bcgsc.ca	37	chr17	29654828	29654829	+	Frame_Shift_Ins	INS	-	-	A													tgctcaatatcgcattacttINSaatttaggcagttctgaccc							TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:29654828_29654829insA	ENST00000358273.4	+	38	5963_5964	c.5580_5581insA	c.(5581-5583)aatfs	p.N1861fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.N1840fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1861					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCGCATTACTTAATTTAGGCAG	0.436			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.L1860fs		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.5580_5581insA	GRCh37	CD072448	NF1	D		.																																			SO:0001589	frameshift_variant	4763	exon38	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ATTACTTAATTTA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5582dupA	17.37:g.29654830_29654830dupA	ENSP00000351015:p.Asn1861fs	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	55	40	NM_001042492	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																			.		0.436	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29654829	-	A	29654828	7	5	23	1	0	1	1	0	0	0	0	0	10395	1741	61	0	5791	0	NF1	17	29654828	Frame_Shift_Ins	INS	-	TCGA-OR-A5JW-01A-11D-A29I-10	2955707	29654828	51540382	83	4074											
PCGF2	7703	broad.mit.edu	37	chr17	36891628	36891628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggaggtagggtgggTggctggaggcccatgggaac	23	5	0	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:36891628T>G	ENST00000580830.1	-	12	1584	c.883A>C	c.(883-885)Acc>Ccc	p.T295P	PCGF2_ENST00000360797.2_Missense_Mutation_p.T295P|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000581345.1_Missense_Mutation_p.T295P			P35227	PCGF2_HUMAN	polycomb group ring finger 2	295	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GTAGGGTGGGTGGCTGGAGGC	0.682											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T295P		.											.	PCGF2-658	0			c.A883C						.						16	12	13					17																	36891628		2187	4280	6467	SO:0001583	missense	7703	exon11			GGTGGGTGGCTGG	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.883A>C	17.37:g.36891628T>G	ENSP00000461961:p.Thr295Pro	Somatic	86	9	866	WXS	Illumina GAIIx	Phase_I	82	10	NM_007144	0	0	39	40	1	A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344960	0.24426	.	.	ENSG00000056661	ENST00000360797	T	0.31247	1.5	4.92	-0.193	0.13244	.	0.651897	0.15163	N	0.277024	T	0.13628	0.0330	N	0.04508	-0.205	0.26765	N	0.969921	B	0.02656	0.0	B	0.01281	0.0	T	0.23583	-1.0184	10	0.23891	T	0.37	-6.6811	12.5227	0.56069	0.0:0.0:0.6437:0.3563	.	295	P35227	PCGF2_HUMAN	P	295	ENSP00000354033:T295P	ENSP00000354033:T295P	T	-	1	0	PCGF2	34145154	0.004000	0.15560	0.536000	0.28039	0.978000	0.69477	-0.673000	0.05239	-0.232000	0.09811	0.459000	0.35465	ACC	.		0.682	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		G	36891628	T	G	36891628	3	3	23	1	0	0	0	0	1	0	0	0	11614	1696	59	5	155	5	PCGF2	17	36891628	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	7236800	36891628	44303582	84	4075											
RNF157	114804	hgsc.bcm.edu	37	chr17	74154491	74154491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctccgagatgctgaaCcgacggtctctgagagagct	11	12	2	4			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr17:74154491C>T	ENST00000269391.6	-	13	1528	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I	RNF157_ENST00000319945.6_Missense_Mutation_p.V466I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	466	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGATGCTGAACCGACGGTCTC	0.537																																					p.V466I	GBM(186;507 2120 27388 27773 52994)	.											.	RNF157-228	0			c.G1396A						.						144	126	132					17																	74154491		2203	4300	6503	SO:0001583	missense	114804	exon13			GCTGAACCGACGG	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1396G>A	17.37:g.74154491C>T	ENSP00000269391:p.Val466Ile	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	62	5	NM_052916	0	0	11	11	0	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908055	0.33721	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.22945	1.93;1.94	5.7	4.71	0.59529	.	0.540943	0.22112	N	0.064476	T	0.13372	0.0324	N	0.14661	0.345	0.22693	N	0.998846	B;B	0.14805	0.011;0.004	B;B	0.15870	0.014;0.009	T	0.15492	-1.0435	10	0.21014	T	0.42	-3.9802	8.2626	0.31795	0.1371:0.6151:0.2478:0.0	.	466;466	Q96PX1-2;Q96PX1	.;RN157_HUMAN	I	466	ENSP00000269391:V466I;ENSP00000321837:V466I	ENSP00000269391:V466I	V	-	1	0	RNF157	71666086	0.003000	0.15002	0.006000	0.13384	0.099000	0.18886	1.528000	0.35985	2.670000	0.90874	0.655000	0.94253	GTT	.		0.537	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		T	74154491	C	T	74154491	3	4	23	1	0	0	0	0	1	0	0	0	13499	507	18	3	671	3	RNF157	17	74154491	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	37262863	74154491	7040719	85	4076											
LPPR3	79948	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	814975	814975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacgtgcccaggagagtGtagttgggcttgcagacggt	17	8	0	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:814975G>A	ENST00000520876.3	-	5	588	c.510C>T	c.(508-510)taC>taT	p.Y170Y	LPPR3_ENST00000359894.2_Silent_p.Y170Y|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		170						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CCAGGAGAGTGTAGTTGGGCT	0.627																																					p.Y170Y		.											.	.	0			c.C510T						.						162	144	150					19																	814975		2203	4300	6503	SO:0001819	synonymous_variant	0	exon5			GAGAGTGTAGTTG																												ENST00000520876.3:c.510C>T	19.37:g.814975G>A		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	248	100	NM_001270366	0	0	0	0	0	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	ENST00000520876.3	37	CCDS58636.1																																																																																			.		0.627	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			A	814975	G	A	814975	2	1	23	1	0	0	0	0	0	0	0	1	8961	1372	48	3		3	LPPR3	19	814975	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10		814975	58314008	86	4077											
PLIN5	440503	hgsc.bcm.edu	37	chr19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcgggcaggccccGcacgctggactccagagcct	16	17	0	1	rs1062223	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3	4	4		916	4.6	1	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001013706	0	0	1	2	1	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		A	4524016	G	A	4524016	3	1	23	1	0	0	0	0	1	0	0	0	12132	1086	38	1	479	1	PLIN5	19	4524016	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	3709041	4524016	54604967	87	4078											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_019107	0	0	0	9	9	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	23	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	146297	4670313	54458670	88	4079											
OR7E24	26648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9362064	9362064	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcatctcctatgaaggctgCctgactcagatgtctttttt	8	10	4	3			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:9362064C>A	ENST00000456448.1	+	1	459	c.345C>A	c.(343-345)tgC>tgA	p.C115*		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGAAGGCTGCCTGACTCAGA	0.512																																					p.C115X		.											.	OR7E24-47	0			c.C345A						.						82	82	82					19																	9362064		2191	4295	6486	SO:0001587	stop_gained	26648	exon1			AGGCTGCCTGACT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.345C>A	19.37:g.9362064C>A	ENSP00000387523:p.Cys115*	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	76	34	NM_001079935	0	0	0	0	0	B9EJD9|Q9UPJ1	Nonsense_Mutation	SNP	ENST00000456448.1	37	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	16.18	3.051388	0.55218	.	.	ENSG00000237521	ENST00000456448	.	.	.	2.39	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7455	0.13035	0.0:0.5593:0.0:0.4407	.	.	.	.	X	115	.	ENSP00000387523:C115X	C	+	3	2	OR7E24	9223064	0.000000	0.05858	0.030000	0.17652	0.028000	0.11728	-1.109000	0.03309	0.350000	0.24002	0.436000	0.28706	TGC	.		0.512	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			A	9362064	C	A	9362064	4	1	23	1	0	0	0	0	0	1	0	0	11260	747	26	3	347	3	OR7E24	19	9362064	Nonsense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	4691751	9362064	49766919	89	4080											
DNM2	1785	broad.mit.edu	37	chr19	10939897	10939897	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactgtgtccacgcctgtAcccccgcctgtcgatgacac	9	17	0	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:10939897A>C	ENST00000355667.6	+	19	2324	c.2244A>C	c.(2242-2244)gtA>gtC	p.V748V	DNM2_ENST00000359692.6_Silent_p.V744V|DNM2_ENST00000585892.1_Silent_p.V748V|DNM2_ENST00000389253.4_Silent_p.V748V|DNM2_ENST00000408974.4_Silent_p.V744V|DNM2_ENST00000314646.5_Silent_p.V748V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	748	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)			CCACGCCTGTACCCCCGCCTG	0.637			"F, N, Splice, Mis, O"		ETP ALL																																p.V748V		.		Rec	yes		19	19p13.2	1785	dynamin 2		L	.	DNM2-471	0			c.A2244C						.						74	56	62					19																	10939897		2203	4300	6503	SO:0001819	synonymous_variant	1785	exon19			GCCTGTACCCCCG		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.2244A>C	19.37:g.10939897A>C		Somatic	81	13		WXS	Illumina GAIIx	Phase_I	177	36	NM_001005361	2	0	185	192	5	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	CCDS45968.1																																																																																			.		0.637	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		C	10939897	A	C	10939897	2	2	23	1	0	0	0	0	0	0	0	1	4686	378	14	5		5	DNM2	19	10939897	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	1577833	10939897	48189086	90	4081											
SLC5A5	6528	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	17983255	17983255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcggggcgggcagcgcAgcgctgaggacttcttcacc	16	13	2	1			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:17983255A>G	ENST00000222248.3	+	1	474	c.127A>G	c.(127-129)Agc>Ggc	p.S43G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	43					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CGGGCAGCGCAGCGCTGAGGA	0.716																																					p.S43G	Melanoma(65;1008 1708 7910 46650)	.											.	SLC5A5-93	0			c.A127G						.						17	19	19					19																	17983255		2197	4286	6483	SO:0001583	missense	6528	exon1			CAGCGCAGCGCTG		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.127A>G	19.37:g.17983255A>G	ENSP00000222248:p.Ser43Gly	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	31	12	NM_000453	0	0	0	0	0	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707942	0.68615	.	.	ENSG00000105641	ENST00000222248	D	0.86865	-2.18	4.18	4.18	0.49190	.	0.256697	0.43110	D	0.000604	D	0.83783	0.5329	L	0.57536	1.79	0.38446	D	0.946839	B	0.32507	0.373	B	0.31290	0.127	D	0.85372	0.1114	10	0.62326	D	0.03	.	11.522	0.50558	1.0:0.0:0.0:0.0	.	43	Q92911	SC5A5_HUMAN	G	43	ENSP00000222248:S43G	ENSP00000222248:S43G	S	+	1	0	SLC5A5	17844255	0.962000	0.33011	1.000000	0.80357	0.994000	0.84299	4.159000	0.58157	1.688000	0.51068	0.397000	0.26171	AGC	.		0.716	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			G	17983255	A	G	17983255	3	3	23	1	0	0	0	0	1	0	0	0	14713	188	7	4	129	4	SLC5A5	19	17983255	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	7043358	17983255	41145728	91	4082											
GDF1	2657	hgsc.bcm.edu	37	chr19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgccccgcggccgagGcaggctccgaggcccgggtg	18	15	0	0	rs4808863	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2	2	2					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_001492	0	0	0	0	0	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		A	18980172	G	A	18980172	3	1	23	1	0	0	0	0	1	0	0	0	6336	1203	42	3	769	3	GDF1	19	18980172	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	996917	18980172	40148811	92	4083											
NUDT19	390916	hgsc.bcm.edu	37	chr19	33183282	33183282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggaggcgggcgtgcTgctgctgcggcccaggactt	17	11	0	1	rs561713304	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:33183282T>G	ENST00000397061.3	+	1	416	c.416T>G	c.(415-417)cTg>cGg	p.L139R	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	139	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GCGGGCGTGCTGCTGCTGCGG	0.726													T|||	3	0.000599042	0	0	5008	,	,		10697	0		0	False		,,,				2504	0.0031				p.L139R		.											.	NUDT19-22	0			c.T416G						.						10	13	12					19																	33183282		2070	4184	6254	SO:0001583	missense	390916	exon1			GCGTGCTGCTGCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.416T>G	19.37:g.33183282T>G	ENSP00000380251:p.Leu139Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	5	NM_001105570	0	0	2	2	0		Missense_Mutation	SNP	ENST00000397061.3	37	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.097023	0.56075	.	.	ENSG00000213965	ENST00000397061	T	0.06933	3.24	4.89	3.86	0.44501	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.50627	U	0.000108	T	0.26846	0.0657	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00942	-1.1506	10	0.87932	D	0	-21.6827	10.0847	0.42410	0.1507:0.0:0.0:0.8493	.	139	A8MXV4	NUD19_HUMAN	R	139	ENSP00000380251:L139R	ENSP00000380251:L139R	L	+	2	0	NUDT19	37875122	1.000000	0.71417	0.803000	0.32268	0.002000	0.02628	3.605000	0.54088	0.853000	0.35312	0.459000	0.35465	CTG	.		0.726	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		G	33183282	T	G	33183282	3	3	23	1	0	0	0	0	1	0	0	0	10775	1580	55	5	418	5	NUDT19	19	33183282	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	14203110	33183282	25945701	93	4084											
CCDC123	84902	bcgsc.ca	37	chr19	33444556	33444556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgtacaggtcatcacTgtggcctcctctgtcctccc	8	17	3	0	rs73579706	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:33444556T>C	ENST00000305768.5	-	4	545	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	CEP89_ENST00000590597.2_Missense_Mutation_p.S153G	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGTCATCACTGTGGCCTCCT	0.483																																					p.S153G		.											.	CEP89-94	0			c.A457G						.						401	426	418					19																	33444556		2203	4300	6503	SO:0001583	missense	84902	exon4			CATCACTGTGGCC	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.457A>G	19.37:g.33444556T>C	ENSP00000306105:p.Ser153Gly	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	100	8	NM_032816	0	0	3	3	0	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	3.578	-0.086165	0.07097	.	.	ENSG00000121289	ENST00000305768	T	0.31510	1.49	5.12	-10.2	0.00374	.	3.796690	0.00695	N	0.000748	T	0.07234	0.0183	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.34725	-0.9817	10	0.22706	T	0.39	7.6155	0.6143	0.00767	0.2371:0.2982:0.1712:0.2935	.	124;153;153	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	G	153	ENSP00000306105:S153G	ENSP00000306105:S153G	S	-	1	0	CEP89	38136396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.650000	0.01991	-4.026000	0.00080	-0.951000	0.02657	AGT	T|0.500;C|0.500		0.483	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		C	33444556	T	C	33444556	3	2	23	1	0	0	0	0	1	0	0	0	2766	1580	55	4	1958	4	CCDC123	19	33444556	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	261274	33444556	25684427	94	4085											
KIAA0355	9710	ucsc.edu	37	chr19	34843761	34843761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctatgtgcagaccccaccCcagcccccacccccaccagc	5	24	0	1	rs527829371|rs397414	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:34843761C>A	ENST00000299505.6	+	14	3987	c.3114C>A	c.(3112-3114)ccC>ccA	p.P1038P	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	1038	Poly-Pro.									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)					AGACCCCACCCCAGCCCCCAC	0.647													A|||	3154	0.629792	0.8313	0.4179	5008	,	,		13217	0.8165		0.3907	False		,,,				2504	0.5613				p.P1038P		.											.	KIAA0355-91	0			c.C3114A						.	A		3359,1041		1301,757,142	30	19	23		3114	-11.2	0.2	19	dbSNP_80	23	3308,5264		739,1830,1717	no	coding-synonymous	KIAA0355	NM_014686.3		2040,2587,1859	AA,AC,CC		38.5908,23.6591,48.6047		1038/1071	34843761	6667,6305	2200	4286	6486	SO:0001819	synonymous_variant	9710	exon14			CCCACCCCAGCCC		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.3114C>A	19.37:g.34843761C>A		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	37	5	NM_014686	0	0	0	0	0	Q2M3W4	Silent	SNP	ENST00000299505.6	37	CCDS12436.1																																																																																			C|0.379;A|0.621		0.647	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		A	34843761	C	A	34843761	2	1	23	1	0	0	0	0	0	0	0	1	8197	610	22	3		3	KIAA0355	19	34843761	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	1399205	34843761	24285222	95	4086											
FAM98C	147965	hgsc.bcm.edu	37	chr19	38894294	38894294	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcggcggggatggcgcGgctgcgcttcgggaacccgg	19	13	1	0	rs369190079	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:38894294G>T	ENST00000252530.5	+	3	328	c.309G>T	c.(307-309)gcG>gcT	p.A103A	FAM98C_ENST00000588262.1_Silent_p.A103A|FAM98C_ENST00000343358.7_Silent_p.A103A	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	103										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGATGGCGCGGCTGCGCTTC	0.726													G|||	2	0.000399361	0	0	5008	,	,		8003	0		0.002	False		,,,				2504	0				p.A103A		.											.	FAM98C-91	0			c.G309T						.	G		1,3143		0,1,1571	2	4	3		309	2.7	0.1	19		3	8,6924		0,8,3458	no	coding-synonymous	FAM98C	NM_174905.3		0,9,5029	TT,TG,GG		0.1154,0.0318,0.0893		103/350	38894294	9,10067	1572	3466	5038	SO:0001819	synonymous_variant	147965	exon3			TGGCGCGGCTGCG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.309G>T	19.37:g.38894294G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_174905	0	0	3	9	6	A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	CCDS42562.1																																																																																			.		0.726	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		T	38894294	G	T	38894294	2	4	23	1	0	0	0	0	0	0	0	1	5680	1103	39	2		2	FAM98C	19	38894294	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	4050533	38894294	20234689	96	4087											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	23	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	466426	39360720	19768263	97	4088											
CYP2B6	1555	bcgsc.ca	37	chr19	41512841	41512841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccccaccttcctcttccaGtccattaccgccaacatcat	3	19	2	0	rs3745274	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:41512841G>T	ENST00000324071.4	+	4	523	c.516G>T	c.(514-516)caG>caT	p.Q172H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	172			Q -> H (in allele CYP2B6*6, allele CYP2B6*7, allele CYP2B6*9 and allele CYP2B6*13; dbSNP:rs3745274). {ECO:0000269|PubMed:11243870, ECO:0000269|PubMed:11470993, ECO:0000269|PubMed:12721789, ECO:0000269|PubMed:14551287, ECO:0000269|PubMed:15469410, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCCTCTTCCAGTCCATTACCG	0.507													g|||	1581	0.315695	0.3744	0.3732	5008	,	,		19726	0.2153		0.2356	False		,,,				2504	0.3814				p.Q172H		.											.	CYP2B6-92	0			c.G516T	GRCh37	CS080663	CYP2B6	S	rs3745274	.	G	HIS/GLN	1629,2777		311,1007,885	87	77	81		516	-9	0	19	dbSNP_107	81	2148,6452		267,1614,2419	yes	missense	CYP2B6	NM_000767.4	24	578,2621,3304	TT,TG,GG		24.9767,36.9723,29.0404	benign	172/492	41512841	3777,9229	2203	4300	6503	SO:0001583	missense	1555	exon4			CTTCCAGTCCATT	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.516G>T	19.37:g.41512841G>T	ENSP00000324648:p.Gln172His	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	174	7	NM_000767	0	0	0	0	0	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	583	0.26694139194139194	174	0.35365853658536583	131	0.36187845303867405	102	0.17832167832167833	176	0.23218997361477572	.	7.755	0.704176	0.15172	0.369723	0.249767	ENSG00000197408	ENST00000324071	T	0.69561	-0.41	4.48	-8.96	0.00761	.	0.221834	0.44285	N	0.000465	T	0.00012	0.0000	N	0.17838	0.53	0.80722	P	0.0	B	0.06786	0.001	B	0.10450	0.005	T	0.18493	-1.0335	9	0.45353	T	0.12	.	1.071	0.01621	0.199:0.1663:0.3402:0.2946	rs3745274;rs57685583;rs3745274	172	P20813	CP2B6_HUMAN	H	172	ENSP00000324648:Q172H	ENSP00000324648:Q172H	Q	+	3	2	CYP2B6	46204681	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.320000	0.02700	-1.641000	0.01523	-1.412000	0.01120	CAG	.		0.507	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41512841	G	T	41512841	3	4	23	1	0	0	0	0	1	0	0	0	4173	1020	36	3	530	3	CYP2B6	19	41512841	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	2152121	41512841	17616142	98	4089											
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42855429	42855429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcggcatgcagccggcGgggccggggtcggggtgccc	22	13	0	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:42855429G>A	ENST00000251268.6	+	16	2798	c.2798G>A	c.(2797-2799)cGg>cAg	p.R933Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.R866Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	933	PSI 3.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCAGCCGGCGGGGCCGGGGT	0.672																																					p.R933Q		.											.	MEGF8-23	0			c.G2798A						.						9	12	11					19																	42855429		2187	4276	6463	SO:0001583	missense	1954	exon16			GCCGGCGGGGCCG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2798G>A	19.37:g.42855429G>A	ENSP00000251268:p.Arg933Gln	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	112	52	NM_001271938	0	0	3	6	3	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	36	5.642620	0.96704	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21734	1.99;2.0	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000003	T	0.39860	0.1094	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.05767	-1.0865	10	0.20046	T	0.44	-25.9994	15.9683	0.79991	0.0:0.0:1.0:0.0	.	933;866	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	866;933	ENSP00000334219:R866Q;ENSP00000251268:R933Q	ENSP00000251268:R933Q	R	+	2	0	MEGF8	47547269	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.180000	0.89694	2.358000	0.79984	0.651000	0.88453	CGG	.		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42855429	G	A	42855429	3	1	23	1	0	0	0	0	1	0	0	0	9501	1116	39	1	2655	1	MEGF8	19	42855429	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	1342588	42855429	16273554	99	4090											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	29	13	NM_000041	2	2	577	1092	511	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	23	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	2556512	45411941	13717042	100	4091											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000221481.6_3'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_000400	0	0	12	17	5	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	23	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	455318	45867259	13261724	101	4092											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258699	48258699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggccctgaggctggCggagctggcgcggcggcaga	20	12	0	2	rs11538665	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:48258699C>T	ENST00000246802.5	+	9	1186	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V	SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	383						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTGAGGCTGGCGGAGCTggcg	0.761													C|||	17	0.00339457	0	0.0043	5008	,	,		7822	0		0.008	False		,,,				2504	0.0061				p.A383V	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.C1148T						.	C	VAL/ALA	8,2480		0,8,1236	1	2	2		1148	3.8	1	19	dbSNP_120	2	64,5588		0,64,2762	no	missense	GLTSCR2	NM_015710.4	64	0,72,3998	TT,TC,CC		1.1323,0.3215,0.8845	possibly-damaging	383/479	48258699	72,8068	1244	2826	4070	SO:0001583	missense	29997	exon9			GGCTGGCGGAGCT	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1148C>T	19.37:g.48258699C>T	ENSP00000246802:p.Ala383Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015710	0	0	28	92	64	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	12	0.005494505494505495	0	0.0	2	0.0055248618784530384	4	0.006993006993006993	6	0.0079155672823219	C	18.73	3.685886	0.68157	0.003215	0.011323	ENSG00000105373	ENST00000246802	T	0.46451	0.87	3.8	3.8	0.43715	.	0.807243	0.11526	N	0.555190	T	0.33177	0.0854	M	0.62016	1.91	0.31171	N	0.703183	P;P;P	0.49090	0.919;0.919;0.919	B;B;B	0.41917	0.37;0.37;0.37	T	0.42749	-0.9433	10	0.34782	T	0.22	-10.9561	11.3494	0.49579	0.0:1.0:0.0:0.0	rs11538665	383;383;381	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	V	383	ENSP00000246802:A383V	ENSP00000246802:A383V	A	+	2	0	GLTSCR2	52950511	0.652000	0.27349	0.960000	0.40013	0.888000	0.51559	0.923000	0.28757	2.107000	0.64212	0.448000	0.29417	GCG	G|0.994;A|0.006		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		T	48258699	C	T	48258699	3	4	23	1	0	0	0	0	1	0	0	0	6501	768	27	1	1182	1	GLTSCR2	19	48258699	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	2391440	48258699	10870284	102	4093											
LILRB3	11025	ucsc.edu	37	chr19	54725992	54725992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctgagagggtgggtttGctgtaggctcctaggagaga	19	5	0	2	rs148339740	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Silent_p.S122S|LILRB3_ENST00000346401.6_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000424807.1_Silent_p.S122S|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Silent_p.S122S|LILRB3_ENST00000469273.1_5'Flank			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507				p.S122S		.											.	LILRB3-93	0			c.C366T						.						62	40	48					19																	54725992		2132	3919	6051	SO:0001819	synonymous_variant	11025	exon4			GGGTTTGCTGTAG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.366C>T	19.37:g.54725992G>A		Somatic	100	9		WXS	Illumina GAIIx	Phase_I	121	19	NM_006864	0	0	0	0	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			G|0.881;A|0.119		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54725992	G	A	54725992	2	1	23	1	0	0	0	0	0	0	0	1	8821	1310	46	3		3	LILRB3	19	54725992	Silent	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	6467293	54725992	4402991	103	4094											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	23	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	1267268	55993260	3135723	104	4095											
TCF15	6939	hgsc.bcm.edu	37	chr20	590456	590456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcactgcccgcggcAcggaagcacggctgcccgtc	13	18	0	0	rs282164	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7	8	8		426	-9	0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_004609	0	0	0	0	0	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		G	590456	A	G	590456	2	3	23	1	0	0	0	0	0	0	0	1	15735	146	6	4		4	TCF15	20	590456	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10		590456	62435064	105	4096											
CHGB	1114	bcgsc.ca	37	chr20	5903388	5903388	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacaaaacgcttttctcAatgaaagaaagcaggcttca	7	9	2	3	rs881118	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr20:5903388A>C	ENST00000378961.4	+	4	802	c.598A>C	c.(598-600)Aat>Cat	p.N200H		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	200			N -> H (in dbSNP:rs881118).			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						CGCTTTTCTCAATGAAAGAAA	0.483													A|||	823	0.164337	0.2231	0.2161	5008	,	,		20925	0.1498		0.0348	False		,,,				2504	0.1963				p.N200H		.											.	CHGB-96	0			c.A598C						.	A	HIS/ASN	899,3507	345.7+/-308.6	93,713,1397	80	85	83		598	-1.7	0	20	dbSNP_86	83	322,8278	113.5+/-173.5	8,306,3986	yes	missense	CHGB	NM_001819.2	68	101,1019,5383	CC,CA,AA		3.7442,20.404,9.388	probably-damaging	200/678	5903388	1221,11785	2203	4300	6503	SO:0001583	missense	1114	exon4			TTTCTCAATGAAA		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.598A>C	20.37:g.5903388A>C	ENSP00000368244:p.Asn200His	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	140	6	NM_001819	0	0	102	102	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	297	0.13598901098901098	121	0.2459349593495935	62	0.1712707182320442	88	0.15384615384615385	26	0.03430079155672823	A	15.45	2.838446	0.51057	0.20404	0.037442	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02197	4.4;4.4	5.27	-1.66	0.08265	.	0.863047	0.10421	N	0.676713	T	0.00012	0.0000	M	0.67953	2.075	0.80722	P	0.0	B	0.18013	0.025	B	0.23852	0.049	T	0.45249	-0.9274	9	0.66056	D	0.02	-6.6714	1.9737	0.03412	0.3373:0.1392:0.386:0.1375	rs881118;rs52834263;rs61397083;rs881118	200	P05060	SCG1_HUMAN	H	200;180	ENSP00000368244:N200H;ENSP00000416643:N180H	ENSP00000368244:N200H	N	+	1	0	CHGB	5851388	0.016000	0.18221	0.000000	0.03702	0.012000	0.07955	0.745000	0.26259	-0.284000	0.09102	0.460000	0.39030	AAT	A|0.887;C|0.113		0.483	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		C	5903388	A	C	5903388	3	2	23	1	0	0	0	0	1	0	0	0	3346	130	5	5	612	5	CHGB	20	5903388	Missense_Mutation	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10	5312932	5903388	57122132	106	4097											
SLC32A1	140679	bcgsc.ca	37	chr20	37356245	37356245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagacggcgaggtggtgCgcgtgcgggactcgtacgtg	19	8	0	2			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr20:37356245C>T	ENST00000217420.1	+	2	804	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	181					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)	CGAGGTGGTGCGCGTGCGGGA	0.632																																					p.R181C		.											.	SLC32A1-90	0			c.C541T						.						80	64	70					20																	37356245		2203	4300	6503	SO:0001583	missense	140679	exon2			GTGGTGCGCGTGC	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.541C>T	20.37:g.37356245C>T	ENSP00000217420:p.Arg181Cys	Somatic	37	1		WXS	Illumina GAIIx	Phase_I	138	65	NM_080552	0	0	0	0	0	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637578	0.67130	.	.	ENSG00000101438	ENST00000217420	T	0.02498	4.27	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00059	-1.2167	10	0.62326	D	0.03	-26.2117	9.4842	0.38919	0.2111:0.7889:0.0:0.0	.	181	Q9H598	VIAAT_HUMAN	C	181	ENSP00000217420:R181C	ENSP00000217420:R181C	R	+	1	0	SLC32A1	36789659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.723000	0.61965	2.317000	0.78254	0.563000	0.77884	CGC	.		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356245	C	T	37356245	3	4	23	1	0	0	0	0	1	0	0	0	14610	768	27	1	547	1	SLC32A1	20	37356245	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	31452857	37356245	25669275	107	4098											
COL9A3	1299	bcgsc.ca	37	chr20	61463522	61463522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtccgggaggtgccgCaggccctaagggagaccagg	18	12	0	1	rs751557	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr20:61463522C>A	ENST00000343916.3	+	25	1307	c.1304C>A	c.(1303-1305)gCa>gAa	p.A435E		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	435	Triple-helical region 3 (COL3).		A -> E (in dbSNP:rs751557). {ECO:0000269|PubMed:11565064, ECO:0000269|PubMed:8586434}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGAGGTGCCGCAGGCCCTAAG	0.602													C|||	1066	0.212859	0.447	0.1729	5008	,	,		20947	0.0496		0.2177	False		,,,				2504	0.0879				p.A435E		.											.	COL9A3-514	0			c.C1304A						.	C	GLU/ALA	1747,2659	513.9+/-368.5	338,1071,794	58	61	60		1304	4.2	0.4	20	dbSNP_86	60	1774,6826	317.9+/-313.4	185,1404,2711	yes	missense	COL9A3	NM_001853.3	107	523,2475,3505	AA,AC,CC		20.6279,39.6505,27.0721	probably-damaging	435/685	61463522	3521,9485	2203	4300	6503	SO:0001583	missense	1299	exon25			GTGCCGCAGGCCC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1304C>A	20.37:g.61463522C>A	ENSP00000341640:p.Ala435Glu	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	360	11	NM_001853	0	0	0	0	0	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	464	0.21245421245421245	204	0.4146341463414634	66	0.18232044198895028	32	0.055944055944055944	162	0.21372031662269128	C	10.51	1.371130	0.24771	0.396505	0.206279	ENSG00000092758	ENST00000343916	D	0.93712	-3.27	5.2	4.23	0.50019	.	0.843935	0.10592	N	0.656672	T	0.00012	0.0000	N	0.05078	-0.115	0.80722	P	0.0	B	0.23185	0.081	B	0.25506	0.061	T	0.04664	-1.0935	9	0.07325	T	0.83	.	12.5103	0.56002	0.0:0.868:0.0:0.132	rs751557;rs59729765;rs751557	435	Q14050	CO9A3_HUMAN	E	435	ENSP00000341640:A435E	ENSP00000341640:A435E	A	+	2	0	COL9A3	60933967	0.003000	0.15002	0.425000	0.26659	0.227000	0.25037	0.934000	0.28910	2.584000	0.87258	0.462000	0.41574	GCA	T|0.059;G|0.214		0.602	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		A	61463522	C	A	61463522	3	1	23	1	0	0	0	0	1	0	0	0	3716	710	25	3	1402	3	COL9A3	20	61463522	Missense_Mutation	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10	24107277	61463522	1561998	108	4099											
LIME1	54923	hgsc.bcm.edu	37	chr20	62369658	62369658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgccccgggctctgccgGcagctgcagccaccgcaggg	15	17	1	0			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr20:62369658G>T	ENST00000309546.3	+	5	478	c.391G>T	c.(391-393)Gca>Tca	p.A131S	RP4-583P15.15_ENST00000490623.2_3'UTR|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.14_ENST00000467211.1_Silent_p.R12R|SLC2A4RG_ENST00000266077.2_5'Flank	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	131					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGCTCTGCCGGCAGCTGCAGC	0.721																																					p.A131S		.											.	LIME1-44	0			c.G391T						.						3	5	4					20																	62369658		1771	3745	5516	SO:0001583	missense	54923	exon5			CTGCCGGCAGCTG	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.391G>T	20.37:g.62369658G>T	ENSP00000309521:p.Ala131Ser	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	43	23	NM_017806	0	0	8	11	3	E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	g	9.530	1.110698	0.20714	.	.	ENSG00000203896	ENST00000309546	T	0.44083	0.93	2.89	0.762	0.18454	.	.	.	.	.	T	0.26919	0.0659	N	0.19112	0.55	0.19300	N	0.999977	P	0.46912	0.886	P	0.44394	0.448	T	0.12091	-1.0561	9	0.25751	T	0.34	-0.5486	6.521	0.22275	0.1151:0.3665:0.5184:0.0	.	131	Q9H400	LIME1_HUMAN	S	131	ENSP00000309521:A131S	ENSP00000309521:A131S	A	+	1	0	LIME1	61840102	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.200000	0.09478	0.096000	0.17463	0.457000	0.33378	GCA	.		0.721	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		T	62369658	G	T	62369658	3	4	23	1	0	0	0	0	1	0	0	0	8829	1203	42	3	405	3	LIME1	20	62369658	Missense_Mutation	SNP	G	TCGA-OR-A5JW-01A-11D-A29I-10	906136	62369658	655862	109	4100											
NEFH	4744	ucsc.edu	37	chr22	29885567	29885567	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacgaaggaggaagcAaagtcccctgagaaggccaa	11	11	1	1	rs147489453|rs75808076|rs59279731		TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr22:29885567A>C	ENST00000310624.6	+	4	1971	c.1938A>C	c.(1936-1938)gcA>gcC	p.A646A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	652	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTG	0.567																																					p.A646A		.											.	NEFH-90	0			c.A1938C						.						78	77	77					22																	29885567		2133	4127	6260	SO:0001819	synonymous_variant	4744	exon4			GGAAGCAAAGTCC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1938A>C	22.37:g.29885567A>C		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	150	32	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885567	A	C	29885567	2	2	23	1	0	0	0	0	0	0	0	1	10353	117	5	5		5	NEFH	22	29885567	Silent	SNP	A	TCGA-OR-A5JW-01A-11D-A29I-10		29885567	21418999	110	4101											
EP300	2033	bcgsc.ca	37	chr22	41551039	41551039	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacaggcactgatgccaacTttggaggcactttaccgtca	10	12	1	1	rs20552	byFrequency	TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chr22:41551039T>A	ENST00000263253.7	+	17	4402	c.3183T>A	c.(3181-3183)acT>acA	p.T1061T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1061					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGATGCCAACTTTGGAGGCAC	0.388			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A|||	3375	0.673922	0.5091	0.7695	5008	,	,		17967	0.8175		0.6352	False		,,,				2504	0.7209				p.T1061T		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300-2011	0			c.T3183A						.	A		2246,2160	582.1+/-385.5	583,1080,540	214	200	205		3183	-2.4	0.2	22	dbSNP_67	205	5338,3262	490.3+/-372.8	1690,1958,652	no	coding-synonymous	EP300	NM_001429.3		2273,3038,1192	AA,AT,TT		37.9302,49.0241,41.6885		1061/2415	41551039	7584,5422	2203	4300	6503	SO:0001819	synonymous_variant	2033	exon17	Familial Cancer Database	Broad Thumb-Hallux syndrome	GCCAACTTTGGAG	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3183T>A	22.37:g.41551039T>A		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	50	4	NM_001429	0	0	11	11	0	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																			T|0.375;A|0.625		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41551039	T	A	41551039	2	1	23	1	0	0	0	0	0	0	0	1	5164	1596	56	5		5	EP300	22	41551039	Silent	SNP	T	TCGA-OR-A5JW-01A-11D-A29I-10	11665472	41551039	9753527	111	4102											
PCDH11X	27328	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chrX	91132451	91132451	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcttcacagatcatgaaatCcctttcagattaaggccagt	7	10	3	3			TCGA-OR-A5JW-01A-11D-A29I-10	TCGA-OR-A5JW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0004802d-73d9-45fd-a460-ea223da20491	b2629be2-b6b9-414c-a7d1-e0103b395590	g.chrX:91132451C>A	ENST00000373094.1	+	2	2057	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	PCDH11X_ENST00000504220.2_Silent_p.I404I|PCDH11X_ENST00000361724.1_Silent_p.I404I|PCDH11X_ENST00000406881.1_Silent_p.I404I|PCDH11X_ENST00000361655.2_Silent_p.I404I|PCDH11X_ENST00000373097.1_Silent_p.I404I|PCDH11X_ENST00000298274.8_Silent_p.I404I|PCDH11X_ENST00000395337.2_Silent_p.I404I|PCDH11X_ENST00000373088.1_Silent_p.I404I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	404	Cadherin 4. {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						ATCATGAAATCCCTTTCAGAT	0.413																																					p.I404I	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C1212A						.						199	164	176					X																	91132451		2203	4300	6503	SO:0001819	synonymous_variant	27328	exon2			TGAAATCCCTTTC	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.1212C>A	X.37:g.91132451C>A		Somatic	243	2		WXS	Illumina GAIIx	Phase_I	272	242	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			T|1.000;|0.000		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91132451	C	A	91132451	2	1	23	1	0	0	0	0	0	0	0	1	11547	845	30	3		3	PCDH11X	23	91132451	Silent	SNP	C	TCGA-OR-A5JW-01A-11D-A29I-10		91132451	64138109	112	4103											
MTHFR	4524	bcgsc.ca	37	chr1	11863057	11863057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtctctcatgccgctcGgggtccaggcccggggtgga	17	13	2	0	rs2066470	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:11863057G>A	ENST00000376592.1	-	1	245	c.117C>T	c.(115-117)ccC>ccT	p.P39P	MTHFR_ENST00000376590.3_Silent_p.P39P|MTHFR_ENST00000376585.1_Silent_p.P80P|MTHFR_ENST00000376583.3_Silent_p.P80P			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	39					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CATGCCGCTCGGGGTCCAGGC	0.592													G|||	509	0.101637	0.0719	0.0548	5008	,	,		18607	0.123		0.0984	False		,,,				2504	0.1564				p.P39P		.											.	MTHFR-90	0			c.C117T						.	G		345,4061	180.1+/-208.5	15,315,1873	60	57	58		117	-11.3	0	1	dbSNP_94	58	822,7778	190.8+/-237.2	41,740,3519	no	coding-synonymous	MTHFR	NM_005957.4		56,1055,5392	AA,AG,GG		9.5581,7.8302,8.9728		39/657	11863057	1167,11839	2203	4300	6503	SO:0001819	synonymous_variant	4524	exon2			CCGCTCGGGGTCC	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.117C>T	1.37:g.11863057G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	55	4	NM_005957	0	0	0	0	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	CCDS137.1																																																																																			G|0.910;A|0.090		0.592	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		A	11863057	G	A	11863057	2	1	24	1	0	0	0	0	0	0	0	1	9969	1103	39	1		1	MTHFR	1	11863057	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		11863057	237387564	1	4104											
CELA2B	51032	bcgsc.ca	37	chr1	15808767	15808767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttctcccagctcctccGggatctaccgcgtgatgctg	9	17	2	1	rs3820071	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:15808767G>A	ENST00000375910.3	+	4	260	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3820071). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CAGCTCCTCCGGGATCTACCG	0.567													G|||	1635	0.326478	0.2776	0.3473	5008	,	,		14119	0.5685		0.2416	False		,,,				2504	0.2157				p.G79R		.											.	CELA2B-91	0			c.G235A						.	G	ARG/GLY	1149,3257	407.5+/-334.3	143,863,1197	61	62	62		235	-6.2	0.2	1	dbSNP_107	62	2113,6487	363.2+/-333.1	270,1573,2457	yes	missense	CELA2B	NM_015849.2	125	413,2436,3654	AA,AG,GG		24.5698,26.0781,25.0807	benign	79/270	15808767	3262,9744	2203	4300	6503	SO:0001583	missense	51032	exon4			TCCTCCGGGATCT		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.235G>A	1.37:g.15808767G>A	ENSP00000365075:p.Gly79Arg	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_015849	0	0	0	0	0	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	741	0.3392857142857143	121	0.2459349593495935	112	0.30939226519337015	311	0.5437062937062938	197	0.2598944591029024	G	0	-2.798414	0.00076	0.260781	0.245698	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.90261	-2.35;-2.64	3.08	-6.17	0.02091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.574111	0.15655	N	0.251153	T	0.00012	0.0000	N	0.12887	0.27	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41484	-0.9506	9	0.02654	T	1	.	0.8149	0.01100	0.2489:0.3212:0.1134:0.3166	rs3820071;rs17214904;rs52801345;rs59821889;rs3820071	79	P08218	CEL2B_HUMAN	R	79;86;98	ENSP00000365075:G79R;ENSP00000399811:G98R	ENSP00000365074:G86R	G	+	1	0	CELA2B	15681354	0.000000	0.05858	0.173000	0.22940	0.003000	0.03518	-1.849000	0.01672	-0.954000	0.03640	-2.217000	0.00297	GGG	G|0.706;A|0.294		0.567	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		A	15808767	G	A	15808767	3	1	24	1	0	0	0	0	1	0	0	0	3219	1116	39	1	249	1	CELA2B	1	15808767	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	3945710	15808767	233441854	2	4105											
HSPG2	3339	bcgsc.ca	37	chr1	22165987	22165987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaccttccagccggtGctgccagggcagtggggaac	15	12	1	0	rs2291827	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:22165987G>A	ENST00000374695.3	-	73	9845	c.9766C>T	c.(9766-9768)Cac>Tac	p.H3256Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3256	Ig-like C2-type 18.		H -> Y (in dbSNP:rs2291827).		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)	TCCAGCCGGTGCTGCCAGGGC	0.637													G|||	762	0.152157	0.0106	0.1484	5008	,	,		18485	0.1577		0.1928	False		,,,				2504	0.2986				p.H3256Y		.											.	HSPG2-141	0			c.C9766T						.	G	TYR/HIS	174,4232	113.3+/-151.4	5,164,2034	55	52	53		9766	5.5	1	1	dbSNP_100	53	1447,7153	276.3+/-292.2	127,1193,2980	yes	missense	HSPG2	NM_005529.5	83	132,1357,5014	AA,AG,GG		16.8256,3.9492,12.4635	benign	3256/4392	22165987	1621,11385	2203	4300	6503	SO:0001583	missense	3339	exon73			GCCGGTGCTGCCA	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.9766C>T	1.37:g.22165987G>A	ENSP00000363827:p.His3256Tyr	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	90	5	NM_005529	0	0	4	4	0	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	304	0.1391941391941392	11	0.022357723577235773	62	0.1712707182320442	95	0.1660839160839161	136	0.17941952506596306	G	16.94	3.261475	0.59431	0.039492	0.168256	ENSG00000142798	ENST00000374695	T	0.27402	1.67	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001089	T	0.00039	0.0001	N	0.20483	0.58	0.19775	P	0.999953864	B	0.32862	0.387	B	0.35039	0.194	T	0.04153	-1.0973	9	0.02654	T	1	.	17.9616	0.89087	0.0:0.0:1.0:0.0	rs2291827;rs2291827	3256	P98160	PGBM_HUMAN	Y	3256	ENSP00000363827:H3256Y	ENSP00000363827:H3256Y	H	-	1	0	HSPG2	22038574	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.085000	0.64468	2.597000	0.87782	0.563000	0.77884	CAC	G|0.871;A|0.129		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22165987	G	A	22165987	3	1	24	1	0	0	0	0	1	0	0	0	7457	1319	46	3	3509	3	HSPG2	1	22165987	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	6357220	22165987	227084634	3	4106											
AP4B1	10717	bcgsc.ca	37	chr1	114438951	114438951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggaaaaggcgcagcAaagcagtgagcagctccatc	15	9	0	2	rs1217401	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:114438951A>G	ENST00000369569.1	-	8	1719	c.1439T>C	c.(1438-1440)tTg>tCg	p.L480S	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L312S|AP4B1_ENST00000256658.4_Missense_Mutation_p.L480S|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	480			L -> S (in dbSNP:rs1217401). {ECO:0000269|PubMed:10066790, ECO:0000269|Ref.3}.		intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGGCGCAGCAAAGCAGTGAG	0.453													A|||	1888	0.376997	0.8003	0.2536	5008	,	,		20016	0.0794		0.2694	False		,,,				2504	0.3098				p.L480S		.											.	AP4B1-93	0			c.T1439C						.	A	SER/LEU	3017,1389	689.6+/-405.1	1046,925,232	158	154	155		1439	6	0.9	1	dbSNP_87	155	2679,5921	430.6+/-356.6	424,1831,2045	yes	missense	AP4B1	NM_006594.2	145	1470,2756,2277	GG,GA,AA		31.1512,31.5252,43.7952	possibly-damaging	480/740	114438951	5696,7310	2203	4300	6503	SO:0001583	missense	10717	exon9			CGCAGCAAAGCAG	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1439T>C	1.37:g.114438951A>G	ENSP00000358582:p.Leu480Ser	Somatic	215	3		WXS	Illumina GAIIx	Phase_I	148	7	NM_006594	0	0	4	4	0	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	756	0.34615384615384615	390	0.7926829268292683	103	0.2845303867403315	54	0.0944055944055944	209	0.2757255936675462	A	15.36	2.810246	0.50421	0.684748	0.311512	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.24538	1.85;1.85;1.85	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389021	0.27996	N	0.017016	T	0.09598	0.0236	N	0.10809	0.05	0.09310	P	1.0	B;B;B;B	0.22541	0.071;0.008;0.033;0.001	B;B;B;B	0.30105	0.111;0.02;0.111;0.007	T	0.13442	-1.0509	9	0.52906	T	0.07	-2.4422	16.5885	0.84745	1.0:0.0:0.0:0.0	rs1217401;rs3170575;rs58628725;rs1217401	480;312;480;381	B2RBF6;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	S	312;480;480	ENSP00000358580:L312S;ENSP00000358582:L480S;ENSP00000256658:L480S	ENSP00000256658:L480S	L	-	2	0	AP4B1	114240474	1.000000	0.71417	0.868000	0.34077	0.986000	0.74619	6.230000	0.72301	2.317000	0.78254	0.460000	0.39030	TTG	A|0.589;G|0.411		0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		G	114438951	A	G	114438951	3	3	24	1	0	0	0	0	1	0	0	0	751	131	5	4	792	4	AP4B1	1	114438951	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	92272964	114438951	134811670	4	4107											
ANKRD35	148741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	145560086	145560086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccacagatcggctttgaTcctggcctgtgagaaaggca	11	11	0	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:145560086T>C	ENST00000355594.4	+	8	659	c.572T>C	c.(571-573)aTc>aCc	p.I191T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	191										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGGCTTTGATCCTGGCCTGT	0.572																																					p.I191T	Melanoma(9;127 754 22988 51047)	.											.	ANKRD35-95	0			c.T572C						.						71	66	68					1																	145560086		2203	4300	6503	SO:0001583	missense	148741	exon8			CTTTGATCCTGGC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.572T>C	1.37:g.145560086T>C	ENSP00000347802:p.Ile191Thr	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	182	81	NM_144698	0	0	0	0	0	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143968	0.77888	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.53640	0.61	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.120754	0.37304	N	0.002142	T	0.42720	0.1215	N	0.17631	0.505	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.50668	-0.8801	10	0.54805	T	0.06	-12.3025	12.3774	0.55287	0.0:0.0:0.0:1.0	.	191	Q8N283	ANR35_HUMAN	T	100;191	ENSP00000347802:I191T	ENSP00000347802:I191T	I	+	2	0	ANKRD35	144271443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.183000	0.65065	2.234000	0.73211	0.533000	0.62120	ATC	.		0.572	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		C	145560086	T	C	145560086	3	2	24	1	0	0	0	0	1	0	0	0	664	1435	50	4	602	4	ANKRD35	1	145560086	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	31121135	145560086	103690535	5	4108											
ATP1A4	480	bcgsc.ca	37	chr1	160134056	160134056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctatcgctgctgagatcGaacacttcatccatctgatc	6	14	2	2	rs17368402	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:160134056G>A	ENST00000368081.4	+	7	1360	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	297			E -> K (in dbSNP:rs17368402).		ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGAGATCGAACACTTCAT	0.537													G|||	225	0.0449281	0.0023	0.0562	5008	,	,		18832	0.002		0.0974	False		,,,				2504	0.0849				p.E297K		.											.	ATP1A4-94	0			c.G889A						.	G	LYS/GLU	100,4306	79.9+/-118.3	0,100,2103	283	224	244		889	1.6	0	1	dbSNP_123	244	985,7615	214.2+/-253.9	45,895,3360	yes	missense	ATP1A4	NM_144699.3	56	45,995,5463	AA,AG,GG		11.4535,2.2696,8.3423	benign	297/1030	160134056	1085,11921	2203	4300	6503	SO:0001583	missense	480	exon7			GAGATCGAACACT	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.889G>A	1.37:g.160134056G>A	ENSP00000357060:p.Glu297Lys	Somatic	299	0		WXS	Illumina GAIIx	Phase_I	236	11	NM_144699	0	0	0	0	0	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	99	0.04532967032967033	1	0.0020325203252032522	21	0.058011049723756904	1	0.0017482517482517483	76	0.10026385224274406	G	9.009	0.982061	0.18812	0.022696	0.114535	ENSG00000132681	ENST00000368081	D	0.90732	-2.72	4.54	1.62	0.23740	ATPase, P-type, ATPase-associated domain (1);	0.158645	0.53938	N	0.000056	T	0.82148	0.4974	L	0.58302	1.8	0.80722	D	1	B	0.31910	0.346	B	0.34536	0.185	T	0.78209	-0.2293	10	0.87932	D	0	.	10.4681	0.44620	0.0777:0.2542:0.6681:0.0	rs17368402;rs56500076;rs57880353;rs17368402	297	Q13733	AT1A4_HUMAN	K	297	ENSP00000357060:E297K	ENSP00000357060:E297K	E	+	1	0	ATP1A4	158400680	1.000000	0.71417	0.010000	0.14722	0.050000	0.14768	3.911000	0.56378	0.013000	0.14918	-2.387000	0.00228	GAA	G|0.934;A|0.066		0.537	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160134056	G	A	160134056	3	1	24	1	0	0	0	0	1	0	0	0	1132	1059	37	1	915	1	ATP1A4	1	160134056	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	14573970	160134056	89116565	6	4109											
TOR1AIP1	26092	bcgsc.ca	37	chr1	179877780	179877780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaatgggccccacaAactgcaagaataaggaccag	10	13	0	1	rs17279712	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:179877780A>C	ENST00000606911.2	+	8	1070	c.879A>C	c.(877-879)caA>caC	p.Q293H	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.Q172H|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.Q294H|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.Q294H|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	293			Q -> H (in dbSNP:rs17279712).		positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCCCCACAAACTGCAAGAA	0.323													A|||	189	0.0377396	0.0151	0.0576	5008	,	,		16998	0.002		0.0845	False		,,,				2504	0.0429				p.Q294H		.											.	TOR1AIP1-153	0			c.A882C						.	A	HIS/GLN	91,4315	74.1+/-112.3	0,91,2112	73	80	78		879	-2.5	0	1	dbSNP_123	78	536,8064	146.9+/-202.4	19,498,3783	yes	missense	TOR1AIP1	NM_015602.2	24	19,589,5895	CC,CA,AA		6.2326,2.0654,4.8209	benign	293/584	179877780	627,12379	2203	4300	6503	SO:0001583	missense	26092	exon8			CCCACAAACTGCA		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.879A>C	1.37:g.179877780A>C	ENSP00000476687:p.Gln293His	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	88	4	NM_001267578	0	0	3	3	0	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	100|100|100	0.045787545787545784|0.045787545787545784|0.045787545787545784	14|14|14	0.028455284552845527|0.028455284552845527|0.028455284552845527	18|18|18	0.049723756906077346|0.049723756906077346|0.049723756906077346	1|1|1	0.0017482517482517483|0.0017482517482517483|0.0017482517482517483	67|67|67	0.08839050131926121|0.08839050131926121|0.08839050131926121	A|A|A	8.824|8.824|8.824	0.938178|0.938178|0.938178	0.18206|0.18206|0.18206	0.020654|0.020654|0.020654	0.062326|0.062326|0.062326	ENSG00000143337|ENSG00000143337|ENSG00000143337	ENST00000447964|ENST00000527391|ENST00000528443;ENST00000271583;ENST00000435319	.|.|T;T;T	.|.|0.25912	.|.|1.77;1.77;1.77	5.39|5.39|5.39	-2.45|-2.45|-2.45	0.06481|0.06481|0.06481	.|.|.	.|.|0.735393	.|.|0.12522	.|.|N	.|.|0.461581	T|T|T	0.00580|0.00580|0.00580	0.0019|0.0019|0.0019	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	P|P|P	0.0|0.0|0.0	.|.|B	.|.|0.09022	.|.|0.002	.|.|B	.|.|0.12156	.|.|0.007	T|T|T	0.22977|0.22977|0.22977	-1.0201|-1.0201|-1.0201	4|4|8	.|.|.	.|.|.	.|.|.	-0.095|-0.095|-0.095	2.2348|2.2348|2.2348	0.04005|0.04005|0.04005	0.472:0.1223:0.2863:0.1193|0.472:0.1223:0.2863:0.1193|0.472:0.1223:0.2863:0.1193	rs17279712;rs52792036;rs17279712|rs17279712;rs52792036;rs17279712|rs17279712;rs52792036;rs17279712	.|.|293	.|.|Q5JTV8	.|.|TOIP1_HUMAN	T|H|H	47|170|294;294;293	.|.|ENSP00000435365:Q294H;ENSP00000271583:Q294H;ENSP00000393292:Q293H	.|.|.	K|N|Q	+|+|+	2|1|3	0|0|2	TOR1AIP1|TOR1AIP1|TOR1AIP1	178144403|178144403|178144403	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.000000|0.000000|0.000000	0.00434|0.00434|0.00434	-0.023000|-0.023000|-0.023000	0.12456|0.12456|0.12456	-0.482000|-0.482000|-0.482000	0.06782|0.06782|0.06782	-2.720000|-2.720000|-2.720000	0.00132|0.00132|0.00132	AAA|AAC|CAA	A|0.955;C|0.045		0.323	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		C	179877780	A	C	179877780	3	2	24	1	0	0	0	0	1	0	0	0	16420	11	1	5	909	5	TOR1AIP1	1	179877780	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	19743724	179877780	69372841	7	4110											
CDC73	79577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	193119482	193119482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctgcctataacagaTacgatcaggaaagattcaaa	7	10	2	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:193119482T>G	ENST00000367435.3	+	9	1061	c.877T>G	c.(877-879)Tac>Gac	p.Y293D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	293	Interaction with POLR2A and PAF1.				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						CTATAACAGATACGATCAGGA	0.383																																					p.Y293D		.											.	CDC73-1009	0			c.T877G						.						111	110	110					1																	193119482		2203	4300	6503	SO:0001583	missense	79577	exon9			AACAGATACGATC	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.877T>G	1.37:g.193119482T>G	ENSP00000356405:p.Tyr293Asp	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	55	25	NM_024529	0	0	0	2	2	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415011	0.83449	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.66280	-0.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85090	0.0951	10	0.72032	D	0.01	-12.7503	13.6203	0.62134	0.0:0.0:0.0:1.0	.	293	Q6P1J9	CDC73_HUMAN	D	293	ENSP00000356405:Y293D	ENSP00000356405:Y293D	Y	+	1	0	CDC73	191386105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.485000	0.81204	2.112000	0.64535	0.533000	0.62120	TAC	.		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		G	193119482	T	G	193119482	3	3	24	1	0	0	0	0	1	0	0	0	3092	1406	49	5	911	5	CDC73	1	193119482	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	13241702	193119482	56131139	8	4111											
CFHR1	3078	bcgsc.ca	37	chr1	196801042	196801042	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaatttgtgtgtaaacgGggatatcgtctttcatcacg	11	7	3	1	rs4230	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:196801042G>T	ENST00000320493.5	+	6	994	c.906G>T	c.(904-906)cgG>cgT	p.R302R	CFHR1_ENST00000367424.4_Silent_p.R243R|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	302	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGTAAACGGGGATATCGTC	0.383													-|||	2541	0.507388	0.6157	0.5187	5008	,	,		12798	0.5437		0.4463	False		,,,				2504	0.3783				p.R302R		.											.	CFHR1-90	0			c.G906T						.	T		2442,1332		1044,354,489	117	131	127		906	0.1	0	1	dbSNP_36	127	3358,4906		1015,1328,1789	no	coding-synonymous	CFHR1	NM_002113.2		2059,1682,2278	TT,TG,GG		40.6341,35.2941,48.1808		302/331	196801042	5800,6238	1887	4132	6019	SO:0001819	synonymous_variant	3078	exon6			TAAACGGGGATAT	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.906G>T	1.37:g.196801042G>T		Somatic	427	4		WXS	Illumina GAIIx	Phase_I	64	8	NM_002113	0	0	6	6	0	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																			G|0.520;T|0.480		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		T	196801042	G	T	196801042	2	4	24	1	0	0	0	0	0	0	0	1	3291	1219	43	3		3	CFHR1	1	196801042	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	3681560	196801042	52449579	9	4112											
CFHR1	3078	bcgsc.ca	37	chr1	196801078	196801078	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttctcacacattgcgAacaacatgttgggatgggaa	10	9	2	0	rs414628	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:196801078A>T	ENST00000320493.5	+	6	1030	c.942A>T	c.(940-942)cgA>cgT	p.R314R	CFHR1_ENST00000367424.4_Silent_p.R255R|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	314	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACACATTGCGAACAACATGTT	0.383													-|||	2122	0.423722	0.326	0.5072	5008	,	,		13037	0.5228		0.4433	False		,,,				2504	0.3742				p.R314R		.											.	CFHR1-90	0			c.A942T						.	A		1425,2329		530,365,982	77	82	80		942	1.1	0	1	dbSNP_80	80	3341,4909		1008,1325,1792	no	coding-synonymous	CFHR1	NM_002113.2		1538,1690,2774	TT,TA,AA		40.497,37.9595,39.7034		314/331	196801078	4766,7238	1877	4125	6002	SO:0001819	synonymous_variant	3078	exon6			ATTGCGAACAACA	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.942A>T	1.37:g.196801078A>T		Somatic	386	3		WXS	Illumina GAIIx	Phase_I	68	5	NM_002113	0	0	26	26	0	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																			A|0.604;T|0.396		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		T	196801078	A	T	196801078	2	4	24	1	0	0	0	0	0	0	0	1	3291	233	9	5		5	CFHR1	1	196801078	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	36	196801078	52449543	10	4113											
AVPR1B	553	broad.mit.edu	37	chr1	206224853	206224853	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctacctggctgtctgtcAccccctgcgcagcctccagc	9	20	2	0	rs148831426		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:206224853A>C	ENST00000367126.4	+	1	878	c.413A>C	c.(412-414)cAc>cCc	p.H138P	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	138					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTCTGTCACCCCCTGCGC	0.627																																					p.H138P		.											.	AVPR1B-569	0			c.A413C						.						45	45	45					1																	206224853		2203	4300	6503	SO:0001583	missense	553	exon1			TCTGTCACCCCCT	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.413A>C	1.37:g.206224853A>C	ENSP00000356094:p.His138Pro	Somatic	90	13		WXS	Illumina GAIIx	Phase_I	96	17	NM_000707	0	0	0	0	0	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193154	0.78902	.	.	ENSG00000198049	ENST00000367126	T	0.40225	1.04	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.71710	0.3372	M	0.92077	3.27	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	T	0.79857	-0.1626	10	0.87932	D	0	-38.0354	14.9072	0.70730	1.0:0.0:0.0:0.0	.	138	P47901	V1BR_HUMAN	P	138	ENSP00000356094:H138P	ENSP00000356094:H138P	H	+	2	0	AVPR1B	204391476	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.190000	0.65104	2.183000	0.69458	0.421000	0.28195	CAC	A|1.000;G|0.000		0.627	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		C	206224853	A	C	206224853	3	2	24	1	0	0	0	0	1	0	0	0	1233	159	6	5	415	5	AVPR1B	1	206224853	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	9423775	206224853	43025768	11	4114											
HLX	3142	hgsc.bcm.edu	37	chr1	221057963	221057963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcggcggcggcgcctcgGagcttctccctgcaacacag	14	15	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr1:221057963G>A	ENST00000366903.6	+	4	2885	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	HLX_ENST00000549319.1_Missense_Mutation_p.E248K	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	462					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cggcGCCTCGGAGCTTCTCCC	0.657																																					p.E462K		.											.	HLX-70	0			c.G1384A						.						9	12	11					1																	221057963		2196	4289	6485	SO:0001583	missense	3142	exon4			GCCTCGGAGCTTC	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1384G>A	1.37:g.221057963G>A	ENSP00000355870:p.Glu462Lys	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	24	22	NM_021958	0	0	11	15	4	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951535	0.92660	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.90955	-2.55;-2.76	4.78	4.78	0.61160	.	0.000000	0.38111	N	0.001807	D	0.90909	0.7143	N	0.19112	0.55	0.36032	D	0.839446	D	0.63880	0.993	D	0.70227	0.968	D	0.93691	0.7007	10	0.59425	D	0.04	-34.2739	15.0753	0.72071	0.0:0.0:1.0:0.0	.	462	Q14774	HLX_HUMAN	K	462;248	ENSP00000355870:E462K;ENSP00000449882:E248K	ENSP00000355870:E462K	E	+	1	0	HLX	219124586	0.994000	0.37717	0.534000	0.28014	0.172000	0.22775	3.598000	0.54038	2.360000	0.80028	0.561000	0.74099	GAG	.		0.657	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		A	221057963	G	A	221057963	3	1	24	1	0	0	0	0	1	0	0	0	7243	1175	41	3	1398	3	HLX	1	221057963	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	14833110	221057963	28192658	12	4115											
NRXN1	9378	hgsc.bcm.edu	37	chr2	51255090	51255090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgccgtcgttaaccgGcgtgtcggccaggagcgtcg	16	14	0	0	rs199784029	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:51255090G>A	ENST00000406316.2	-	2	1798	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	NRXN1_ENST00000404971.1_Missense_Mutation_p.P108S|NRXN1_ENST00000405581.1_Missense_Mutation_p.P108S|NRXN1_ENST00000406859.3_Missense_Mutation_p.P108S|NRXN1_ENST00000401669.2_Missense_Mutation_p.P108S|NRXN1_ENST00000405472.3_Missense_Mutation_p.P108S|NRXN1_ENST00000402717.3_Missense_Mutation_p.P108S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	108	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGTTAACCGGCGTGTCGGCC	0.657													G|||	7	0.00139776	0.0045	0	5008	,	,		13666	0		0.001	False		,,,				2504	0				p.P108S		.											.	NRXN1-92	0			c.C322T						.	G	SER/PRO,SER/PRO	15,4085		0,15,2035	20	25	24		322,322	5	1	2		24	3,8369		0,3,4183	no	missense,missense	NRXN1	NM_001135659.1,NM_004801.4	74,74	0,18,6218	AA,AG,GG		0.0358,0.3659,0.1443	benign,benign	108/1548,108/1478	51255090	18,12454	2050	4186	6236	SO:0001583	missense	9378	exon2			TAACCGGCGTGTC	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.322C>T	2.37:g.51255090G>A	ENSP00000384311:p.Pro108Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_004801	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.865	0.343846	0.11126	0.003659	3.58E-4	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.179601	0.22887	U	0.054427	T	0.57725	0.2073	L	0.31526	0.94	0.28038	N	0.933868	B;B;B	0.24823	0.007;0.112;0.012	B;B;B	0.28232	0.026;0.087;0.006	T	0.49041	-0.8980	10	0.09338	T	0.73	.	13.0678	0.59043	0.0:0.3018:0.6982:0.0	.	108;108;108	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	S	108	ENSP00000385142:P108S;ENSP00000384311:P108S;ENSP00000434015:P108S;ENSP00000385017:P108S;ENSP00000385434:P108S;ENSP00000385681:P108S;ENSP00000385310:P108S	ENSP00000385017:P108S	P	-	1	0	NRXN1	51108594	0.952000	0.32445	0.990000	0.47175	0.392000	0.30506	1.982000	0.40638	2.293000	0.77203	0.563000	0.77884	CCG	G|0.999;A|0.001		0.657	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	51255090	G	A	51255090	3	1	24	1	0	0	0	0	1	0	0	0	10704	1203	42	3	4676	3	NRXN1	2	51255090	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		51255090	191944283	13	4116											
TEKT4	150483	broad.mit.edu	37	chr2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G													accgaggtgcaggctcatccINSgtactccaccaccttccaag					rs149873671		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																					p.P230fs		.											.	TEKT4-155	1	Substitution - coding silent(1)	lung(1)	c.689_690insG						.																																			SO:0001589	frameshift_variant	150483	exon3			CTCATCCGTACTC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	126	10	NM_144705	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000295201.4	37	CCDS2005.1																																																																																			.		0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		G	95539830	-	G	95539829	7	5	24	1	0	1	1	0	0	0	0	0	15802	652	23	0	699	0	TEKT4	2	95539829	Frame_Shift_Ins	INS	-	TCGA-OR-A5JX-01A-11D-A29I-10	44284739	95539829	147659544	14	4117	30	2									
TEKT4	150483	hgsc.bcm.edu	37	chr2	95539831	95539831	+	Missense_Mutation	SNP	T	T	C													ccgaggtgcaggctcatccgTactccaccaccttccaagag					rs199573327		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:95539831T>C	ENST00000295201.4	+	3	828	c.691T>C	c.(691-693)Tac>Cac	p.Y231H	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCTCATCCGTACTCCACCAC	0.667																																					p.Y231H		.											.	TEKT4-155	0			c.T691C						.						74	71	72					2																	95539831		2203	4300	6503	SO:0001583	missense	150483	exon3			CATCCGTACTCCA	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.691T>C	2.37:g.95539831T>C	ENSP00000295201:p.Tyr231His	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	120	12	NM_144705	0	0	0	0	0		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	5.627	0.300387	0.10678	.	.	ENSG00000163060	ENST00000295201	T	0.02345	4.33	2.24	-1.96	0.07525	.	0.327469	0.33813	N	0.004535	T	0.00845	0.0028	N	0.00801	-1.175	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55860	-0.8074	10	0.35671	T	0.21	-21.4175	3.0502	0.06167	0.1905:0.3928:0.0:0.4167	.	231	Q8WW24	TEKT4_HUMAN	H	231	ENSP00000295201:Y231H	ENSP00000295201:Y231H	Y	+	1	0	TEKT4	94903558	0.993000	0.37304	0.023000	0.16930	0.013000	0.08279	1.214000	0.32419	-1.071000	0.03145	-0.818000	0.03119	TAC	T|0.998;C|0.002		0.667	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		C	95539831	T	C	95539831	3	2	24	1	0	0	0	0	1	0	0	0	15802	1638	57	4	701	4	TEKT4	2	95539831	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	2	95539831	147659542	15	4118	30	2									
IL1RL1	9173	bcgsc.ca	37	chr2	102968007	102968007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgactagatgtagtcactGcagtggaaaccaacatacga	9	8	1	2	rs4988956	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:102968007G>A	ENST00000233954.1	+	11	1568	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	433	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		A -> T (in dbSNP:rs4988956). {ECO:0000269|PubMed:10936050}.		immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGTAGTCACTGCAGTGGAAAC	0.393													g|||	1930	0.385383	0.7542	0.2853	5008	,	,		19832	0.126		0.4046	False		,,,				2504	0.2055				p.A433T		.											.	IL1RL1-517	0			c.G1297A						.	G	THR/ALA	3105,1301		1100,905,198	72	70	71		1297	2.3	0	2	dbSNP_113	71	3346,5254		667,2012,1621	yes	missense	IL1RL1	NM_016232.4	58	1767,2917,1819	AA,AG,GG		38.907,29.5279,49.6002	possibly-damaging	433/557	102968007	6451,6555	2203	4300	6503	SO:0001583	missense	9173	exon11			GTCACTGCAGTGG	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1297G>A	2.37:g.102968007G>A	ENSP00000233954:p.Ala433Thr	Somatic	217	2		WXS	Illumina GAIIx	Phase_I	149	8	NM_016232	0	0	0	0	0	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	881	0.4033882783882784	373	0.758130081300813	111	0.30662983425414364	86	0.15034965034965034	311	0.4102902374670185	.	11.74	1.729188	0.30684	0.704721	0.38907	ENSG00000115602	ENST00000233954	T	0.07908	3.15	5.14	2.35	0.29111	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.359848	0.25564	N	0.029816	T	0.00012	0.0000	M	0.68952	2.095	0.58432	P	6.999999999979245E-6	P	0.39883	0.693	B	0.35353	0.201	T	0.04140	-1.0974	9	0.51188	T	0.08	.	6.5963	0.22674	0.1505:0.0:0.7065:0.143	rs4988956;rs52818139;rs4988956	433	Q01638	ILRL1_HUMAN	T	433	ENSP00000233954:A433T	ENSP00000233954:A433T	A	+	1	0	IL1RL1	102334439	0.014000	0.17966	0.005000	0.12908	0.681000	0.39784	1.282000	0.33226	0.186000	0.20125	0.455000	0.32223	GCA	G|0.541;A|0.459		0.393	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		A	102968007	G	A	102968007	3	1	24	1	0	0	0	0	1	0	0	0	7690	1319	46	3	1352	3	IL1RL1	2	102968007	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	7428176	102968007	140231366	16	4119											
TUBA3E	112714	broad.mit.edu	37	chr2	130951625	130951625	+	Frame_Shift_Del	DEL	G	G	-													ggccagggggaagtggatgcGggggtacggcacgaggttgg					rs76767502	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:130951625delG	ENST00000312988.7	-	4	890	c.790delC	c.(790-792)cgcfs	p.R264fs		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	264					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AAGTGGATGCGGGGGTACGGC	0.602																																					p.R264fs		.											.	TUBA3E-69	0			c.790delC						.						179	132	148					2																	130951625		2203	4300	6503	SO:0001589	frameshift_variant	112714	exon4			GGATGCGGGGGTA	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.790delC	2.37:g.130951625delG	ENSP00000318197:p.Arg264fs	Somatic	492	0		WXS	Illumina GAIIx	Phase_I	383	8	NM_207312	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000312988.7	37	CCDS2158.1																																																																																			.		0.602	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		-	130951625	G	-	130951625	7	5	24	1	0	1	0	1	0	0	0	0	16797	1116	39	0	570	0	TUBA3E	2	130951625	Frame_Shift_Del	DEL	G	TCGA-OR-A5JX-01A-11D-A29I-10	27983618	130951625	112247748	17	4120											
TTN	7273	bcgsc.ca	37	chr2	179558366	179558366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttcaacccttttggaaaTggcaacgtgaattttctctt	8	8	2	1	rs2042995	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:179558366T>C	ENST00000591111.1	-	117	30837	c.30613A>G	c.(30613-30615)Att>Gtt	p.I10205V	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I10522V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I9278V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.			I -> V (in Ref. 3; CAD12456 and 9; AAP80791). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTGGAAATGGCAACGTGA	0.308													C|||	2393	0.477835	0.5877	0.4193	5008	,	,		17705	0.5685		0.2455	False		,,,				2504	0.5164				p.I10522V		.											.	TTN-636	0			c.A31564G						.	C	,VAL/ILE,,	2003,1581		579,845,368	60	62	61		,27832,,	5.8	1	2	dbSNP_94	61	1858,6270		194,1470,2400	yes	intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,29,,	773,2315,2768	CC,CT,TT		22.8593,44.1127,32.9662	,benign,,	,9278/33424,,	179558366	3861,7851	1792	4064	5856	SO:0001583	missense	7273	exon119			TGGAAATGGCAAC	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.30613A>G	2.37:g.179558366T>C	ENSP00000465570:p.Ile10205Val	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	86	5	NM_001267550	0	0	0	0	0	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		910	0.4166666666666667	287	0.5833333333333334	133	0.3674033149171271	306	0.534965034965035	184	0.24274406332453827	C	0.877	-0.730053	0.03135	0.558873	0.228593	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.60548	0.18	5.85	5.85	0.93711	.	.	.	.	.	T	0.00012	0.0000	N	0.00960	-1.095	0.09310	P	0.9999999999343484	.	.	.	.	.	.	T	0.29027	-1.0025	6	0.87932	D	0	.	9.3114	0.37908	0.0:0.8379:0.0:0.1621	rs2042995;rs56726642;rs2042995	.	.	.	V	9278;400;32	ENSP00000343764:I9278V	ENSP00000343764:I9278V	I	-	1	0	TTN	179266611	0.947000	0.32204	1.000000	0.80357	0.933000	0.57130	1.140000	0.31516	1.498000	0.48600	-0.128000	0.14901	ATT	T|0.582;C|0.418		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179558366	T	C	179558366	3	2	24	1	0	0	0	0	1	0	0	0	16784	1464	51	4	72941	4	TTN	2	179558366	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	48606741	179558366	63641007	18	4121											
SH3BP4	23677	bcgsc.ca	37	chr2	235951819	235951819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggtggcgtccgtcctAgaaaagctgaaggaggactg	17	8	0	2	rs3795962	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr2:235951819A>G	ENST00000409212.1	+	4	2913	c.2406A>G	c.(2404-2406)ctA>ctG	p.L802L	SH3BP4_ENST00000392011.2_Silent_p.L802L|SH3BP4_ENST00000344528.4_Silent_p.L802L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	802					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L802L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGTCCGTCCTAGAAAAGCTGA	0.587													G|||	3767	0.752196	0.9576	0.6499	5008	,	,		22177	0.9157		0.4612	False		,,,				2504	0.6779				p.L802L		.											.	SH3BP4-94	1	Substitution - coding silent(1)	prostate(1)	c.A2406G						.	G		3881,525	224.3+/-240.5	1716,449,38	46	46	46		2406	2	1	2	dbSNP_107	46	3994,4606	566.4+/-388.7	926,2142,1232	no	coding-synonymous	SH3BP4	NM_014521.2		2642,2591,1270	GG,GA,AA		46.4419,11.9156,39.451		802/964	235951819	7875,5131	2203	4300	6503	SO:0001819	synonymous_variant	23677	exon4			CGTCCTAGAAAAG	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2406A>G	2.37:g.235951819A>G		Somatic	379	4		WXS	Illumina GAIIx	Phase_I	217	7	NM_014521	0	0	2	2	0	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																			G|0.647;N|0.001		0.587	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			G	235951819	A	G	235951819	2	3	24	1	0	0	0	0	0	0	0	1	14291	407	15	4		4	SH3BP4	2	235951819	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	56393453	235951819	7247554	19	4122											
TGM4	7047	bcgsc.ca	37	chr3	44926931	44926931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacaggtgtttcacctgcGgctggtgctgaaccagcccc	13	13	1	1	rs115097986		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr3:44926931G>A	ENST00000296125.4	+	2	202	c.134G>A	c.(133-135)cGg>cAg	p.R45Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	45					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTCACCTGCGGCTGGTGCTG	0.557													G|||	1	0.000199681	0	0	5008	,	,		18564	0		0.001	False		,,,				2504	0				p.R45Q		.											.	TGM4-91	0			c.G134A						.						61	63	63					3																	44926931		2203	4300	6503	SO:0001583	missense	7047	exon2			ACCTGCGGCTGGT	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.134G>A	3.37:g.44926931G>A	ENSP00000296125:p.Arg45Gln	Somatic	277	3		WXS	Illumina GAIIx	Phase_I	234	7	NM_003241	0	0	0	0	0	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.93	3.510249	0.64522	.	.	ENSG00000163810	ENST00000296125	D	0.84730	-1.89	2.77	-1.49	0.08718	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.685215	0.10877	U	0.624250	T	0.64360	0.2591	N	0.19112	0.55	0.09310	N	1	B;B	0.32188	0.295;0.359	B;B	0.23419	0.022;0.046	T	0.55560	-0.8122	10	0.05525	T	0.97	.	6.2147	0.20648	0.6365:0.0:0.3635:0.0	.	45;45	P49221;B4YUQ1	TGM4_HUMAN;.	Q	45	ENSP00000296125:R45Q	ENSP00000296125:R45Q	R	+	2	0	TGM4	44901935	0.000000	0.05858	0.001000	0.08648	0.719000	0.41307	-0.226000	0.09139	-0.298000	0.08921	0.467000	0.42956	CGG	G|0.999;A|0.001		0.557	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		A	44926931	G	A	44926931	3	1	24	1	0	0	0	0	1	0	0	0	15879	1116	39	1	140	1	TGM4	3	44926931	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		44926931	153095499	20	4123											
FYCO1	79443	bcgsc.ca	37	chr3	46008087	46008087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttccacggtcagtgcGcaaacctggatgcccagctc	9	15	1	0	rs13079869	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr3:46008087G>A	ENST00000296137.2	-	8	2944	c.2739C>T	c.(2737-2739)tgC>tgT	p.C913C	FYCO1_ENST00000535325.1_Silent_p.C913C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	913					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CGGTCAGTGCGCAAACCTGGA	0.632													G|||	529	0.105631	0.0076	0.0605	5008	,	,		20768	0.004		0.1223	False		,,,				2504	0.3579				p.C913C		.											.	FYCO1-91	0			c.C2739T						.	G		109,4297	83.9+/-122.4	0,109,2094	50	47	48		2739	-5.3	0	3	dbSNP_121	48	947,7653	205.8+/-248.1	48,851,3401	no	coding-synonymous	FYCO1	NM_024513.2		48,960,5495	AA,AG,GG		11.0116,2.4739,8.1193		913/1479	46008087	1056,11950	2203	4300	6503	SO:0001819	synonymous_variant	79443	exon8			CAGTGCGCAAACC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2739C>T	3.37:g.46008087G>A		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	172	6	NM_024513	0	0	0	0	0	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1																																																																																			G|0.920;A|0.080		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		A	46008087	G	A	46008087	2	1	24	1	0	0	0	0	0	0	0	1	6149	1079	38	1		1	FYCO1	3	46008087	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	1081156	46008087	152014343	21	4124											
BOC	91653	bcgsc.ca	37	chr3	112991312	112991312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaggcccaaaccatcatCgtcaccaaaggccagagtct	8	15	3	2	rs3814398	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr3:112991312C>T	ENST00000495514.1	+	7	1427	c.723C>T	c.(721-723)atC>atT	p.I241I	BOC_ENST00000273395.4_Silent_p.I241I|BOC_ENST00000355385.3_Silent_p.I241I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	241	Ig-like C2-type 3.				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)			AAACCATCATCGTCACCAAAG	0.627													C|||	1386	0.276757	0.2073	0.3732	5008	,	,		18873	0.3978		0.1879	False		,,,				2504	0.2689				p.I241I		.											.	BOC-157	0			c.C723T						.	C		902,3504	348.0+/-309.7	94,714,1395	162	154	157		723	-5.9	0.9	3	dbSNP_107	157	1332,7268	261.2+/-283.7	111,1110,3079	no	coding-synonymous	BOC	NM_033254.2		205,1824,4474	TT,TC,CC		15.4884,20.4721,17.1767		241/1115	112991312	2234,10772	2203	4300	6503	SO:0001819	synonymous_variant	91653	exon7			CATCATCGTCACC	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.723C>T	3.37:g.112991312C>T		Somatic	235	2		WXS	Illumina GAIIx	Phase_I	232	8	NM_033254	0	0	0	0	0	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																			C|0.788;T|0.212		0.627	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		T	112991312	C	T	112991312	2	4	24	1	0	0	0	0	0	0	0	1	1483	874	31	1		1	BOC	3	112991312	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	66983225	112991312	85031118	22	4125											
SMC4	10051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	160148837	160148837	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taggaatccttaccagagatCcagaaagaacatcgcaatct	7	10	1	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr3:160148837C>G	ENST00000357388.3	+	20	3409	c.2958C>G	c.(2956-2958)atC>atG	p.I986M	SMC4_ENST00000462787.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.I986M|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.I961M	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	986					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)			TACCAGAGATCCAGAAAGAAC	0.333																																					p.I986M		.											.	SMC4-291	0			c.C2958G						.						51	54	53					3																	160148837		2203	4297	6500	SO:0001583	missense	10051	exon19			AGAGATCCAGAAA	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.2958C>G	3.37:g.160148837C>G	ENSP00000349961:p.Ile986Met	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	156	48	NM_005496	0	0	17	19	2	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459415	0.26248	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.78481	-1.18;-0.85;-1.18	5.94	3.22	0.36961	RecF/RecN/SMC (1);	0.150854	0.64402	D	0.000017	T	0.65626	0.2709	N	0.16790	0.44	0.80722	D	1	B;P;B	0.43542	0.014;0.81;0.075	B;P;B	0.48030	0.102;0.564;0.076	T	0.59653	-0.7414	10	0.35671	T	0.21	-3.016	6.0816	0.19944	0.0:0.5486:0.1214:0.33	.	961;961;986	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	M	986;961;986;580	ENSP00000349961:I986M;ENSP00000417964:I961M;ENSP00000341382:I986M	ENSP00000341382:I986M	I	+	3	3	SMC4	161631531	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.099000	0.31013	0.427000	0.26145	0.650000	0.86243	ATC	.		0.333	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			G	160148837	C	G	160148837	3	3	24	1	0	0	0	0	1	0	0	0	14830	845	30	3	3032	3	SMC4	3	160148837	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	47157525	160148837	37873593	23	4126											
ZFYVE28	57732	bcgsc.ca	37	chr4	2275835	2275835	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggtcgtggctgccgtgGaacctggaccggatcttctc	14	11	2	1	rs2051561	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:2275835G>A	ENST00000290974.2	-	9	2499	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	ZFYVE28_ENST00000511071.1_Silent_p.F690F|ZFYVE28_ENST00000515312.1_Silent_p.F650F|ZFYVE28_ENST00000508471.1_Silent_p.F25F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	720					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCGTGGAACCTGGACC	0.642													G|||	1784	0.35623	0.3623	0.513	5008	,	,		14371	0.12		0.5427	False		,,,				2504	0.2883				p.F720F		.											.	ZFYVE28-93	0			c.C2160T						.	G	,,	1557,2849	487.6+/-361.0	256,1045,902	136	119	125		2070,1950,2160	2.8	1	4	dbSNP_94	125	4616,3984	599.4+/-394.1	1260,2096,944	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	,,	1516,3141,1846	AA,AG,GG		46.3256,35.3382,47.4627	,,	690/858,650/818,720/888	2275835	6173,6833	2203	4300	6503	SO:0001819	synonymous_variant	57732	exon9			GCCGTGGAACCTG	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2160C>T	4.37:g.2275835G>A		Somatic	274	2		WXS	Illumina GAIIx	Phase_I	210	9	NM_020972	0	0	14	14	0	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	CCDS33942.1																																																																																			G|0.576;A|0.424		0.642	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2275835	G	A	2275835	2	1	24	1	0	0	0	0	0	0	0	1	17718	1165	41	3		3	ZFYVE28	4	2275835	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		2275835	188878441	24	4127											
RGS12	6002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	3388163	3388163	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaactgtgtctgatggCggtaagtcacaatttctgat	10	8	4	2	rs147432997	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:3388163C>T	ENST00000344733.5	+	4	2923	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	RGS12_ENST00000336727.3_Splice_Site_p.G673G|RGS12_ENST00000306648.7_Splice_Site_p.G71G|RGS12_ENST00000543385.1_Intron|RGS12_ENST00000382788.3_Splice_Site_p.G673G|RGS12_ENST00000538395.1_Splice_Site_p.G15G|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000338806.4_Splice_Site_p.G25G	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	673					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCTGATGGCGGTAAGTCAC	0.373													C|||	3	0.000599042	0	0	5008	,	,		19773	0		0.003	False		,,,				2504	0				p.G673G		.											.	RGS12-226	0			c.C2019T						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	155	143	147		2019,75,2019	-3	1	4	dbSNP_134	147	11,8589	8.4+/-32.0	0,11,4289	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	RGS12	NM_002926.3,NM_198227.1,NM_198229.2	,,	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	,,	673/1377,25/800,673/1448	3388163	12,12994	2203	4300	6503	SO:0001630	splice_region_variant	6002	exon4			TGATGGCGGTAAG	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2020+1C>T	4.37:g.3388163C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	54	14	NM_002926	0	0	0	0	0	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	CCDS3366.1																																																																																			C|0.999;T|0.001		0.373	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Silent	T	3388163	C	T	3388163	5	4	24	1	0	0	0	0	0	0	1	0	13340	782	27	1	2087	1	RGS12	4	3388163	Splice_Site	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	1112328	3388163	187766113	25	4128											
ATP8A1	10396	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	42466787	42466787	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttatagttccaggcaccatGaatcatcagtaaattcttca	6	9	4	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:42466787G>A	ENST00000381668.5	-	27	2770	c.2539C>T	c.(2539-2541)Cat>Tat	p.H847Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.H832Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	847					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAGGCACCATGAATCATCAGT	0.333																																					p.H847Y		.											.	ATP8A1-92	0			c.C2539T						.						73	79	77					4																	42466787		2203	4300	6503	SO:0001583	missense	10396	exon27			CACCATGAATCAT	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2539C>T	4.37:g.42466787G>A	ENSP00000371084:p.His847Tyr	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	152	37	NM_006095	0	0	1	1	0	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573240	0.86542	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74842	-0.88;-0.88	5.15	5.15	0.70609	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	H	0.95816	3.725	0.80722	D	1	D;D;D	0.69078	0.975;0.997;0.997	P;D;D	0.68039	0.809;0.955;0.955	D	0.93096	0.6504	10	0.87932	D	0	.	19.0038	0.92842	0.0:0.0:1.0:0.0	.	832;847;839	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	Y	847;832	ENSP00000371084:H847Y;ENSP00000264449:H832Y	ENSP00000264449:H832Y	H	-	1	0	ATP8A1	42161544	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.888000	0.87302	2.561000	0.86390	0.460000	0.39030	CAT	.		0.333	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		A	42466787	G	A	42466787	3	1	24	1	0	0	0	0	1	0	0	0	1193	1290	45	3	999	3	ATP8A1	4	42466787	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	39078624	42466787	148687489	26	4129											
HERC3	8916	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	89589214	89589214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattcttcggctggatacaAaccccagcaaagtactaggt	8	12	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:89589214A>T	ENST00000402738.1	+	14	1854	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Missense_Mutation_p.N539Y	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	539					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GCTGGATACAAACCCCAGCAA	0.408																																					p.N539Y		.											.	HERC3-660	0			c.A1615T						.						97	91	93					4																	89589214		2203	4300	6503	SO:0001583	missense	8916	exon14			GATACAAACCCCA	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.1615A>T	4.37:g.89589214A>T	ENSP00000385684:p.Asn539Tyr	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	51	7	NM_014606	0	0	2	2	0	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276516	0.80580	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	L	0.61218	1.895	0.80722	D	1	D	0.60575	0.988	P	0.53722	0.733	T	0.55147	-0.8186	10	0.48119	T	0.1	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	539	Q15034	HERC3_HUMAN	Y	539	ENSP00000385684:N539Y;ENSP00000264345:N539Y	ENSP00000264345:N539Y	N	+	1	0	HERC3	89808237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.985000	0.76193	2.371000	0.80710	0.533000	0.62120	AAC	.		0.408	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		T	89589214	A	T	89589214	3	4	24	1	0	0	0	0	1	0	0	0	7086	14	1	5	1661	5	HERC3	4	89589214	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	47122427	89589214	101565062	27	4130											
TLL1	7092	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr4	166981201	166981201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgtggtggacttcttaCcaaacttaacggcaccataa	8	10	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:166981201C>A	ENST00000061240.2	+	15	2515	c.1868C>A	c.(1867-1869)aCc>aAc	p.T623N	TLL1_ENST00000507499.1_Missense_Mutation_p.T646N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	623	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)		GGACTTCTTACCAAACTTAAC	0.453																																					p.T623N		.											.	TLL1-158	0			c.C1868A						.						70	69	69					4																	166981201		2203	4300	6503	SO:0001583	missense	7092	exon15			TTCTTACCAAACT	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.1868C>A	4.37:g.166981201C>A	ENSP00000061240:p.Thr623Asn	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	32	6	NM_012464	0	0	0	0	0	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275513	0.40294	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.20463	2.07;2.07	6.17	3.4	0.38934	CUB (5);	0.137872	0.47852	U	0.000205	T	0.33556	0.0867	M	0.73319	2.225	0.80722	D	1	P;B	0.46395	0.877;0.444	P;P	0.51170	0.661;0.542	T	0.08086	-1.0739	10	0.48119	T	0.1	.	11.5067	0.50471	0.0:0.7017:0.2352:0.0631	.	646;623	E9PD25;O43897	.;TLL1_HUMAN	N	623;646	ENSP00000061240:T623N;ENSP00000426082:T646N	ENSP00000061240:T623N	T	+	2	0	TLL1	167200651	0.999000	0.42202	0.718000	0.30602	0.027000	0.11550	4.674000	0.61612	0.942000	0.37525	-0.165000	0.13383	ACC	.		0.453	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			A	166981201	C	A	166981201	3	1	24	1	0	0	0	0	1	0	0	0	15992	507	18	3	1926	3	TLL1	4	166981201	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	77391987	166981201	24173075	28	4131											
GALNTL6	442117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	173961210	173961210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatttttgaacacattaatAtgactgttttagaaaaattt	6	3	0	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:173961210A>G	ENST00000506823.1	+	13	2422	c.1765A>G	c.(1765-1767)Atg>Gtg	p.M589V	GALNTL6_ENST00000508122.1_Missense_Mutation_p.M572V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	589					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						ACACATTAATATGACTGTTTT	0.393																																					p.M589V		.											.	GALNTL6-137	0			c.A1765G						.						74	72	73					4																	173961210		2203	4300	6503	SO:0001583	missense	442117	exon13			ATTAATATGACTG		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.1765A>G	4.37:g.173961210A>G	ENSP00000423313:p.Met589Val	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	55	14	NM_001034845	0	0	0	0	0	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	6.661	0.490436	0.12702	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.54675	0.57;0.56	5.7	2.0	0.26442	.	0.153878	0.46145	N	0.000314	T	0.39253	0.1071	L	0.40543	1.245	0.36671	D	0.878519	B	0.16166	0.016	B	0.15870	0.014	T	0.30297	-0.9983	10	0.29301	T	0.29	.	9.2523	0.37562	0.7946:0.0:0.2054:0.0	.	589	Q49A17	GLTL6_HUMAN	V	589;572	ENSP00000423313:M589V;ENSP00000423827:M572V	ENSP00000423313:M589V	M	+	1	0	GALNTL6	174197785	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	1.936000	0.40183	0.434000	0.26340	-0.250000	0.11733	ATG	.		0.393	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		G	173961210	A	G	173961210	3	3	24	1	0	0	0	0	1	0	0	0	6250	449	16	4	1811	4	GALNTL6	4	173961210	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	6980009	173961210	17193066	29	4132											
ODZ3	55714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	183609360	183609360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcacacggcgtttgcatgGgggggacgtgtcgctgtgaa	17	9	1	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:183609360G>C	ENST00000511685.1	+	12	2200	c.2077G>C	c.(2077-2079)Ggg>Cgg	p.G693R	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G693R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	693	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										CGTTTGCATGGGGGGGACGTG	0.592																																					p.G693R		.											.	.	0			c.G2077C						.						109	115	113					4																	183609360		1972	4161	6133	SO:0001583	missense	55714	exon11			TGCATGGGGGGGA	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.2077G>C	4.37:g.183609360G>C	ENSP00000424226:p.Gly693Arg	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	39	17	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471427	0.43942	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.33654	1.4;1.4	5.02	5.02	0.67125	Epidermal growth factor-like (1);	.	.	.	.	T	0.38983	0.1061	L	0.46819	1.47	0.80722	D	1	P	0.48998	0.918	P	0.45232	0.474	T	0.11131	-1.0600	9	0.33141	T	0.24	.	18.5322	0.90996	0.0:0.0:1.0:0.0	.	693	Q9P273	TEN3_HUMAN	R	693	ENSP00000424226:G693R;ENSP00000385276:G693R	ENSP00000385276:G693R	G	+	1	0	ODZ3	183846354	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	5.487000	0.66863	2.626000	0.88956	0.650000	0.86243	GGG	.		0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			C	183609360	G	C	183609360	3	2	24	1	0	0	0	0	1	0	0	0	10875	1232	43	3	2119	3	ODZ3	4	183609360	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	9648150	183609360	7544916	30	4133											
ODZ3	55714	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	183710523	183710523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatggtaaaacatggaGttacacatatttagaaaagg	10	4	0	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:183710523G>A	ENST00000511685.1	+	25	5705	c.5582G>A	c.(5581-5583)aGt>aAt	p.S1861N	TENM3_ENST00000406950.2_Missense_Mutation_p.S1861N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1861					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)										AAAACATGGAGTTACACATAT	0.438																																					p.S1861N		.											.	.	0			c.G5582A						.						69	70	70					4																	183710523		1950	4135	6085	SO:0001583	missense	55714	exon24			CATGGAGTTACAC	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.5582G>A	4.37:g.183710523G>A	ENSP00000424226:p.Ser1861Asn	Somatic	245	1		WXS	Illumina GAIIx	Phase_I	266	66	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378637	0.82682	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87650	-2.28;-2.28	5.2	5.2	0.72013	.	.	.	.	.	D	0.92867	0.7731	M	0.74647	2.275	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.92611	0.6099	9	0.51188	T	0.08	.	18.9316	0.92568	0.0:0.0:1.0:0.0	.	1861	Q9P273	TEN3_HUMAN	N	1861	ENSP00000424226:S1861N;ENSP00000385276:S1861N	ENSP00000385276:S1861N	S	+	2	0	ODZ3	183947517	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.567000	0.98161	2.691000	0.91804	0.655000	0.94253	AGT	.		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183710523	G	A	183710523	3	1	24	1	0	0	0	0	1	0	0	0	10875	1029	36	3	5676	3	ODZ3	4	183710523	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	101163	183710523	7443753	31	4134											
WWC2	80014	bcgsc.ca	37	chr4	184236868	184236868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcatcccatccctgccaGctgatgatgtgtgattacat	8	11	0	3	rs4862155	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr4:184236868G>A	ENST00000403733.3	+	23	3764	c.3565G>A	c.(3565-3567)Gct>Act	p.A1189T	WWC2_ENST00000504005.1_Missense_Mutation_p.A871T|WWC2_ENST00000513834.1_Missense_Mutation_p.A1140T|WWC2_ENST00000508747.1_Missense_Mutation_p.A317T|WWC2_ENST00000448232.2_Missense_Mutation_p.A1213T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1189			A -> T (in dbSNP:rs4862155). {ECO:0000269|PubMed:17974005}.		negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ATCCCTGCCAGCTGATGATGT	0.363													G|||	195	0.0389377	0.0234	0.0375	5008	,	,		19449	0.0228		0.0537	False		,,,				2504	0.0624				p.A1189T		.											.	WWC2-93	0			c.G3565A						.	G	THR/ALA	121,4285	89.7+/-128.4	3,115,2085	96	84	88		3565	4.5	0	4	dbSNP_111	88	544,8056	150.6+/-205.5	21,502,3777	yes	missense	WWC2	NM_024949.5	58	24,617,5862	AA,AG,GG		6.3256,2.7463,5.113	probably-damaging	1189/1193	184236868	665,12341	2203	4300	6503	SO:0001583	missense	80014	exon23			CTGCCAGCTGATG	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3565G>A	4.37:g.184236868G>A	ENSP00000384222:p.Ala1189Thr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	114	5	NM_024949	0	0	1	1	0	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	CCDS34109.2	88	0.040293040293040296	12	0.024390243902439025	19	0.052486187845303865	18	0.03146853146853147	39	0.051451187335092345	G	13.93	2.384963	0.42308	0.027463	0.063256	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.31	4.47	0.54385	.	0.181999	0.37623	N	0.002003	T	0.19087	0.0458	M	0.78049	2.395	0.80722	D	1	D;B;D;D	0.63046	0.992;0.248;0.992;0.985	P;B;P;P	0.61592	0.891;0.112;0.891;0.802	T	0.54437	-0.8294	10	0.72032	D	0.01	-3.1407	13.9248	0.63955	0.0724:0.0:0.9276:0.0	rs4862155;rs52802328;rs61473673;rs4862155	1213;1189;317;1140	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	T	1189;1140;1213;871;317	ENSP00000384222:A1189T;ENSP00000425054:A1140T;ENSP00000398577:A1213T;ENSP00000427569:A871T;ENSP00000420835:A317T	ENSP00000384222:A1189T	A	+	1	0	WWC2	184473862	1.000000	0.71417	0.026000	0.17262	0.166000	0.22503	8.426000	0.90273	1.486000	0.48398	0.655000	0.94253	GCT	G|0.953;A|0.047		0.363	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		A	184236868	G	A	184236868	3	1	24	1	0	0	0	0	1	0	0	0	17461	971	34	3	3655	3	WWC2	4	184236868	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	526345	184236868	6917408	32	4135											
ANKH	56172	bcgsc.ca	37	chr5	14769103	14769103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcagtgtgtgaaagacGgcagcgatggcccctgccac	12	13	1	2	rs17251667	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr5:14769103G>A	ENST00000284268.6	-	2	624	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	98					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTGAAAGACGGCAGCGATGG	0.483													G|||	604	0.120607	0.0424	0.1225	5008	,	,		16145	0.0238		0.1829	False		,,,				2504	0.2607				p.A98A		.											.	ANKH-91	0			c.C294T						.	G		264,4142	148.8+/-183.1	7,250,1946	73	72	72		294	-4	0.3	5	dbSNP_123	72	1672,6928	307.4+/-308.4	173,1326,2801	no	coding-synonymous	ANKH	NM_054027.4		180,1576,4747	AA,AG,GG		19.4419,5.9918,14.8854		98/493	14769103	1936,11070	2203	4300	6503	SO:0001819	synonymous_variant	56172	exon2			AAAGACGGCAGCG	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.294C>T	5.37:g.14769103G>A		Somatic	260	1		WXS	Illumina GAIIx	Phase_I	170	7	NM_054027	0	0	0	0	0	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	CCDS3885.1																																																																																			G|0.877;A|0.123		0.483	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		A	14769103	G	A	14769103	2	1	24	1	0	0	0	0	0	0	0	1	627	1103	39	1		1	ANKH	5	14769103	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		14769103	166146157	33	4136											
SNX18	112574	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	53839018	53839018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaactacaggagctcttaCcaaagtcaaggagagtaggc	10	8	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr5:53839018C>A	ENST00000381410.4	+	2	1821	c.1631C>A	c.(1630-1632)aCc>aAc	p.T544N	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGAGCTCTTACCAAAGTCAAG	0.393																																					p.T544N		.											.	SNX18-226	0			c.C1631A						.						73	71	71					5																	53839018		1869	4093	5962	SO:0001583	missense	112574	exon2			CTCTTACCAAAGT	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1631C>A	5.37:g.53839018C>A	ENSP00000370817:p.Thr544Asn	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	209	64	NM_001102575	0	0	0	0	0	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926806	0.73327	.	.	ENSG00000178996	ENST00000381410	T	0.13901	2.55	5.72	5.72	0.89469	.	.	.	.	.	T	0.14227	0.0344	.	.	.	0.80722	D	1	B	0.22080	0.064	B	0.22753	0.041	T	0.08269	-1.0730	8	0.27082	T	0.32	.	19.8891	0.96923	0.0:1.0:0.0:0.0	.	544	Q96RF0-2	.	N	544	ENSP00000370817:T544N	ENSP00000370817:T544N	T	+	2	0	SNX18	53874775	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.473000	0.81007	2.689000	0.91719	0.655000	0.94253	ACC	.		0.393	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			A	53839018	C	A	53839018	3	1	24	1	0	0	0	0	1	0	0	0	14934	507	18	3	1903	3	SNX18	5	53839018	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	39069915	53839018	127076242	34	4137											
FAM172A	83989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	93111872	93111872	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaaacacatacctgctgaGacccgggggcaatcaggtag	11	11	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr5:93111872G>A	ENST00000395965.3	-	10	1243	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	FAM172A_ENST00000509739.1_Silent_p.V220V|FAM172A_ENST00000509163.1_Silent_p.V321V|FAM172A_ENST00000505869.1_Silent_p.V257V	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	367						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TACCTGCTGAGACCCGGGGGC	0.383																																					p.V367V		.											.	FAM172A-90	0			c.C1101T						.						104	109	107					5																	93111872		2203	4300	6503	SO:0001819	synonymous_variant	83989	exon10			TGCTGAGACCCGG		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1101C>T	5.37:g.93111872G>A		Somatic	238	0		WXS	Illumina GAIIx	Phase_I	428	64	NM_032042	0	0	0	0	0	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Silent	SNP	ENST00000395965.3	37	CCDS4069.1																																																																																			.		0.383	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		A	93111872	G	A	93111872	2	1	24	1	0	0	0	0	0	0	0	1	5511	929	33	3		3	FAM172A	5	93111872	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	39272854	93111872	87803388	35	4138											
ANXA6	309	broad.mit.edu;bcgsc.ca	37	chr5	150503872	150503872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcatggctttccgcagCgctttggcatctgcgtcagg	11	14	3	0	rs138779149	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr5:150503872C>T	ENST00000354546.5	-	15	1340	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	ANXA6_ENST00000356496.5_Silent_p.A371A|ANXA6_ENST00000523714.1_Silent_p.A339A|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Silent_p.A164A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	371					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)			CTTTCCGCAGCGCTTTGGCAT	0.612													C|||	8	0.00159744	8e-04	0	5008	,	,		16965	0		0.007	False		,,,				2504	0				p.A371A		.											.	ANXA6-22	0			c.G1113A						.	C	,	6,4018		0,6,2006	66	74	71		1113,1017	-0.9	1	5	dbSNP_134	71	48,8294		0,48,4123	no	coding-synonymous,coding-synonymous	ANXA6	NM_001155.4,NM_001193544.1	,	0,54,6129	TT,TC,CC		0.5754,0.1491,0.4367	,	371/674,339/642	150503872	54,12312	2012	4171	6183	SO:0001819	synonymous_variant	309	exon15			CCGCAGCGCTTTG	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.1113G>A	5.37:g.150503872C>T		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	170	6	NM_001155	0	0	124	124	0	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																			C|0.997;T|0.003		0.612	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		T	150503872	C	T	150503872	2	4	24	1	0	0	0	0	0	0	0	1	722	755	27	1		1	ANXA6	5	150503872	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	57392000	150503872	30411388	36	4139											
FAT2	2196	bcgsc.ca	37	chr5	150908812	150908812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttgggggaattggggcCggtgttcattgacatcagtg	16	6	3	1	rs7718054	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr5:150908812C>T	ENST00000261800.5	-	14	9965	c.9953G>A	c.(9952-9954)cGg>cAg	p.R3318Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3318	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs7718054).|R -> W (in dbSNP:rs2304024).		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)			GAATTGGGGCCGGTGTTCATT	0.522													C|||	349	0.0696885	0.1422	0.0836	5008	,	,		21809	0.0347		0.0398	False		,,,				2504	0.0286				p.R3318Q		.											.	FAT2-96	0			c.G9953A						.	C	GLN/ARG	555,3851	249.3+/-256.8	48,459,1696	142	136	138		9953	-0.4	0.9	5	dbSNP_116	138	308,8292	111.6+/-171.8	4,300,3996	yes	missense	FAT2	NM_001447.2	43	52,759,5692	TT,TC,CC		3.5814,12.5965,6.6354	benign	3318/4350	150908812	863,12143	2203	4300	6503	SO:0001583	missense	2196	exon14			TGGGGCCGGTGTT	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.9953G>A	5.37:g.150908812C>T	ENSP00000261800:p.Arg3318Gln	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	235	6	NM_001447	0	0	0	0	0	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	151	0.06913919413919414	74	0.15040650406504066	17	0.04696132596685083	25	0.043706293706293704	35	0.04617414248021108	C	10.23	1.292020	0.23564	0.125965	0.035814	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.78	-0.421	0.12332	Cadherin (3);Cadherin-like (1);	1.332910	0.04805	N	0.434197	T	0.00241	0.0007	N	0.21282	0.65	0.45272	P	0.001727000000000034	B;B	0.13145	0.007;0.006	B;B	0.08055	0.003;0.002	T	0.04961	-1.0915	9	0.41790	T	0.15	.	2.9255	0.05783	0.1012:0.1821:0.2108:0.5058	rs7718054;rs7718054	3318;509	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	Q	3318	ENSP00000261800:R3318Q	ENSP00000261800:R3318Q	R	-	2	0	FAT2	150889005	0.004000	0.15560	0.947000	0.38551	0.558000	0.35554	-0.060000	0.11712	0.022000	0.15160	0.637000	0.83480	CGG	C|0.927;T|0.073		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150908812	C	T	150908812	3	4	24	1	0	0	0	0	1	0	0	0	5712	652	23	1	3136	1	FAT2	5	150908812	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	404940	150908812	30006448	37	4140											
RREB1	6239	hgsc.bcm.edu	37	chr6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcggcctgggcggggGccacaagggccgcaagccct	18	16	0	0	rs9502564	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000379933.3_Missense_Mutation_p.G783V|RREB1_ENST00000379938.2_Missense_Mutation_p.G783V|RREB1_ENST00000334984.6_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		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)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9	9	9		2348,2348,2348,2348	5.3	1	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	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.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001003700	0	0	0	0	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230680	G	T	7230680	3	4	24	1	0	0	0	0	1	0	0	0	13724	1203	42	3	2374	3	RREB1	6	7230680	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		7230680	163884387	38	4141											
BTN3A1	11119	broad.mit.edu;bcgsc.ca	37	chr6	26408132	26408132	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtatcctgtaccatcAgaagttccctcctcggcctg	10	13	1	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:26408132A>T	ENST00000289361.6	+	4	1035	c.667A>T	c.(667-669)Aga>Tga	p.R223*	BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.R223*|BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.R223*|BTN3A1_ENST00000414912.2_Nonsense_Mutation_p.R171*	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	223	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						CTGTACCATCAGAAGTTCCCT	0.552																																					p.R223X		.											.	BTN3A1-92	0			c.A667T						.						170	158	162					6																	26408132		2203	4300	6503	SO:0001587	stop_gained	11119	exon4			ACCATCAGAAGTT	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.667A>T	6.37:g.26408132A>T	ENSP00000289361:p.Arg223*	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	185	9	NM_007048	0	0	3	3	0	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	35	5.505602	0.96371	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	.	.	.	2.0	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	7.0382	0.25004	0.3416:0.6584:0.0:0.0	.	.	.	.	X	223;223;223;171	.	ENSP00000289361:R223X	R	+	1	2	BTN3A1	26516111	0.000000	0.05858	0.005000	0.12908	0.528000	0.34623	-1.125000	0.03257	-0.187000	0.10516	0.418000	0.28097	AGA	.		0.552	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			T	26408132	A	T	26408132	4	4	24	1	0	0	0	0	0	1	0	0	1566	180	7	5	677	5	BTN3A1	6	26408132	Nonsense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	19177452	26408132	144706935	39	4142											
HLA-A	3105	bcgsc.ca	37	chr6	29910688	29910688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcgggcgccgtggatAgagcaggaggggccggagta	21	9	0	1	rs41544012	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:29910688A>G	ENST00000396634.1	+	4	569	c.228A>G	c.(226-228)atA>atG	p.I76M	HLA-A_ENST00000376806.5_Missense_Mutation_p.I76M|HLA-A_ENST00000376809.5_Missense_Mutation_p.I76M|HLA-A_ENST00000376802.2_Missense_Mutation_p.I76M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	76	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGCCGTGGATAGAGCAGGAGG	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.I76M		.											.	HLA-A-92	0			c.A228G						.						50	52	52					6																	29910688		2203	4299	6502	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGGATAGAGCAG	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.228A>G	6.37:g.29910688A>G	ENSP00000379873:p.Ile76Met	Somatic	176	2		WXS	Illumina GAIIx	Phase_I	211	25	NM_001242758	0	0	349	350	1	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	264	0.12087912087912088	78	0.15853658536585366	37	0.10220994475138122	70	0.12237762237762238	79	0.10422163588390501	.	10.57	1.387103	0.25031	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00008	9.61;9.61;9.61;9.61	3.71	1.8	0.24995	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	4.887320	0.02623	U	0.103442	T	0.00012	0.0000	N	0.00859	-1.14	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.003;0.003;0.003	B;B;B;B;B	0.26094	0.02;0.041;0.037;0.066;0.037	T	0.42430	-0.9452	10	0.66056	D	0.02	.	6.565	0.22507	0.2379:0.0:0.7621:0.0	rs41544012	76;76;76;76;76	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	M	76	ENSP00000379873:I76M;ENSP00000366002:I76M;ENSP00000366005:I76M;ENSP00000365998:I76M	ENSP00000348012:I76M	I	+	3	3	HLA-A	30018667	0.000000	0.05858	0.003000	0.11579	0.096000	0.18686	-0.131000	0.10482	0.352000	0.24053	-0.538000	0.04264	ATA	A|0.885;G|0.115		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910688	A	G	29910688	3	3	24	1	0	0	0	0	1	0	0	0	7222	410	15	4	234	4	HLA-A	6	29910688	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	3502556	29910688	141204379	40	4143											
IP6K3	117283	bcgsc.ca	37	chr6	33703230	33703230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccctcatgtccccggcGtctgcgctgttttgcacaac	9	17	2	0	rs545787	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:33703230G>A	ENST00000293756.4	-	2	350	c.24C>T	c.(22-24)gaC>gaT	p.D8D	IP6K3_ENST00000451316.1_Silent_p.D8D	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	8					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						TGTCCCCGGCGTCTGCGCTGT	0.607													G|||	1672	0.333866	0.7171	0.2378	5008	,	,		19059	0.0675		0.331	False		,,,				2504	0.1616				p.D8D		.											.	IP6K3-240	0			c.C24T						.	G	,	2841,1565	654.5+/-399.8	909,1023,271	48	37	41		24,24	-10.5	0	6	dbSNP_83	41	3127,5473	468.6+/-367.3	593,1941,1766	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	1502,2964,2037	AA,AG,GG		36.3605,35.5197,45.8865	,	8/411,8/411	33703230	5968,7038	2203	4300	6503	SO:0001819	synonymous_variant	117283	exon3			CCCGGCGTCTGCG	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.24C>T	6.37:g.33703230G>A		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	64	5	NM_001142883	0	0	0	0	0	Q96MQ9	Silent	SNP	ENST00000293756.4	37	CCDS34435.1																																																																																			G|0.599;A|0.401		0.607	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		A	33703230	G	A	33703230	2	1	24	1	0	0	0	0	0	0	0	1	7817	1136	40	1		1	IP6K3	6	33703230	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	3792542	33703230	137411837	41	4144											
TULP1	7287	bcgsc.ca	37	chr6	35477025	35477025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctttgcccttttgattgctCttctttatcaccgtagctgc	7	12	3	1	rs2064318	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:35477025C>G	ENST00000229771.6	-	8	862	c.783G>C	c.(781-783)aaG>aaC	p.K261N	TULP1_ENST00000322263.4_Missense_Mutation_p.K208N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	261			K -> N (in dbSNP:rs2064318). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17962469, ECO:0000269|PubMed:9096357, ECO:0000269|PubMed:9462751}.|K -> T (in RP14).		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						TTTGATTGCTCTTCTTTATCA	0.587													G|||	4199	0.838458	0.913	0.8833	5008	,	,		19103	0.8641		0.7863	False		,,,				2504	0.7331				p.K261N	GBM(55;1027 1091 11115 23439)	.											.	TULP1-92	0			c.G783C						.	G	ASN/LYS	3921,485	226.2+/-241.8	1746,429,28	378	350	359	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	783	3.7	1	6	dbSNP_94	359	7033,1567	295.0+/-302.2	2879,1275,146	yes	missense	TULP1	NM_003322.3	94	4625,1704,174	GG,GC,CC		18.2209,11.0077,15.7773	benign	261/543	35477025	10954,2052	2203	4300	6503	SO:0001583	missense	7287	exon8			ATTGCTCTTCTTT	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.783G>C	6.37:g.35477025C>G	ENSP00000229771:p.Lys261Asn	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	107	8	NM_003322	0	0	2	2	0	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	1865	0.8539377289377289	448	0.9105691056910569	324	0.8950276243093923	494	0.8636363636363636	599	0.7902374670184696	G	0.119	-1.127509	0.01770	0.889923	0.817791	ENSG00000112041	ENST00000229771;ENST00000322263	T;T	0.80123	-1.32;-1.34	4.6	3.73	0.42828	.	0.386813	0.27807	N	0.017773	T	0.16171	0.0389	N	0.00186	-1.895	0.42916	P	0.005730000000000013	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18398	-1.0338	9	0.02654	T	1	.	6.5805	0.22591	0.0977:0.1794:0.7229:0.0	rs2064318;rs57875686	208;261	O00294-2;O00294	.;TULP1_HUMAN	N	261;208	ENSP00000229771:K261N;ENSP00000319414:K208N	ENSP00000229771:K261N	K	-	3	2	TULP1	35585003	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	0.813000	0.27225	0.571000	0.29365	-0.357000	0.07601	AAG	C|0.349;G|0.651		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			G	35477025	C	G	35477025	3	3	24	1	0	0	0	0	1	0	0	0	16822	912	32	3	877	3	TULP1	6	35477025	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	1773795	35477025	135638042	42	4145											
TMEM30A	55754	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	75968594	75968594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcgaaaagtaggtaatGctgcagtacgcatccaaaca	9	9	0	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:75968594G>A	ENST00000230461.6	-	6	1123	c.794C>T	c.(793-795)gCa>gTa	p.A265V	TMEM30A_ENST00000370050.5_Missense_Mutation_p.A146V|TMEM30A_ENST00000475111.2_Missense_Mutation_p.A229V	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	265					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTAGGTAATGCTGCAGTACG	0.383																																					p.A265V		.											.	TMEM30A-90	0			c.C794T						.						108	101	103					6																	75968594		2203	4300	6503	SO:0001583	missense	55754	exon6			GGTAATGCTGCAG	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.794C>T	6.37:g.75968594G>A	ENSP00000230461:p.Ala265Val	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	129	9	NM_018247	0	0	3	3	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643024	0.96704	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89379	0.3680	9	0.72032	D	0.01	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	229;265	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	V	265;249;146;229	.	ENSP00000230461:A265V	A	-	2	0	TMEM30A	76025314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.605000	0.88082	0.591000	0.81541	GCA	.		0.383	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		A	75968594	G	A	75968594	3	1	24	1	0	0	0	0	1	0	0	0	16200	1319	46	3	299	3	TMEM30A	6	75968594	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	40491569	75968594	95146473	43	4146											
LAMA2	3908	broad.mit.edu	37	chr6	129691085	129691085	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaggcttattcagctggcaGagggcaatctgaatacactc	11	9	2	3	rs138303386		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:129691085G>T	ENST00000421865.2	+	34	4958	c.4909G>T	c.(4909-4911)Gag>Tag	p.E1637*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1637	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1637K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGCTGGCAGAGGGCAATCT	0.448																																					p.E1637X		.											.	LAMA2-162	1	Substitution - Missense(1)	endometrium(1)	c.G4909T						.						81	84	83					6																	129691085		2203	4300	6503	SO:0001587	stop_gained	3908	exon34			CTGGCAGAGGGCA	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.4909G>T	6.37:g.129691085G>T	ENSP00000400365:p.Glu1637*	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	46	12.167815	0.99643	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.98	5.98	0.97165	.	0.108387	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.5778	0.68262	0.0:0.2528:0.7472:0.0	.	.	.	.	X	1637	.	ENSP00000346769:E1637X	E	+	1	0	LAMA2	129732778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.153000	0.58118	2.838000	0.97847	0.655000	0.94253	GAG	G|1.000;A|0.000		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129691085	G	T	129691085	4	4	24	1	0	0	0	0	0	1	0	0	8634	943	33	3	5043	3	LAMA2	6	129691085	Nonsense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	53722491	129691085	41423982	44	4147											
IGF2R	3482	ucsc.edu	37	chr6	160454109	160454109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatacctctcaagtcaaagCagcaggaagataccacaatc	7	12	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:160454109C>A	ENST00000356956.1	+	9	1329	c.1181C>A	c.(1180-1182)gCa>gAa	p.A394E		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	394					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)	CAAGTCAAAGCAGCAGGAAGA	0.413																																					p.A394E		.											.	IGF2R-118	0			c.C1181A						.						97	88	91					6																	160454109		2203	4300	6503	SO:0001583	missense	3482	exon9			TCAAAGCAGCAGG	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.1181C>A	6.37:g.160454109C>A	ENSP00000349437:p.Ala394Glu	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072085	0.55646	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.67	2.31	0.28768	Mannose-6-phosphate receptor, binding (1);	0.372428	0.28057	N	0.016764	T	0.00580	0.0019	N	0.08118	0	0.23232	N	0.998074	P	0.35821	0.523	B	0.39562	0.303	T	0.48281	-0.9049	10	0.66056	D	0.02	-11.5191	7.3327	0.26592	0.0:0.1784:0.0:0.8216	.	394	P11717	MPRI_HUMAN	E	394	ENSP00000349437:A394E	ENSP00000349437:A394E	A	+	2	0	IGF2R	160374099	1.000000	0.71417	0.982000	0.44146	0.722000	0.41435	2.831000	0.48144	0.280000	0.22209	-0.367000	0.07326	GCA	.		0.413	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160454109	C	A	160454109	3	1	24	1	0	0	0	0	1	0	0	0	7603	710	25	3	1215	3	IGF2R	6	160454109	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	30763024	160454109	10660958	45	4148											
PRR18	285800	hgsc.bcm.edu	37	chr6	166720806	166720806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgcgcggcagccgcGgactccacgccgcgcagcca	14	21	0	0	rs911203	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7	7	7		825	2.4	1	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		C	166720806	G	C	166720806	2	2	24	1	0	0	0	0	0	0	0	1	12632	1103	39	2		2	PRR18	6	166720806	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	6266697	166720806	4394261	46	4149											
TCP10L2	401285	broad.mit.edu	37	chr6	167592576	167592576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttcccaggccgccacGctgcaggagcagacggcagc	14	16	0	1	rs60976240	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:167592576G>A	ENST00000366832.2	+	6	866	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	245										endometrium(1)|kidney(2)|lung(3)	6						AGGCCGCCACGCTGCAGGAGC	0.582													G|||	3206	0.640176	0.7617	0.6614	5008	,	,		17779	0.5694		0.5984	False		,,,				2504	0.5767				p.T245T		.											.	.	0			c.G735A						.						23	28	27					6																	167592576		692	1591	2283	SO:0001819	synonymous_variant	401285	exon6			CGCCACGCTGCAG		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.735G>A	6.37:g.167592576G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	90	4	NM_001145121	0	0	0	0	0		Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																			G|0.425;A|0.575		0.582	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		A	167592576	G	A	167592576	2	1	24	1	0	0	0	0	0	0	0	1	15759	1074	38	1		1	TCP10L2	6	167592576	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	871770	167592576	3522491	47	4150											
TBP	6908	mdanderson.org	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																					p.Q73Q		.											.	TBP-91	1	Substitution - coding silent(1)	endometrium(1)	c.G219A						.						17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908	exon3			GCAACAGCAACAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	56	13	NM_003194	0	0	436	441	5	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	24	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	3278467	170871043	244024	48	4151											
MRPL32	64983	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	42971992	42971992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcagggaaaatggcgCtggccatgctggtcttggtg	15	9	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:42971992C>T	ENST00000223324.2	+	1	194	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank|PSMA2_ENST00000445517.1_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	3					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GAAAATGGCGCTGGCCATGCT	0.627																																					p.L3L		.											.	MRPL32-90	0			c.C7T						.						57	61	59					7																	42971992		2203	4300	6503	SO:0001819	synonymous_variant	64983	exon1			ATGGCGCTGGCCA	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.7C>T	7.37:g.42971992C>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	110	24	NM_031903	0	0	17	23	6	Q96Q68|Q9P098	Silent	SNP	ENST00000223324.2	37	CCDS5468.1																																																																																			.		0.627	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		T	42971992	C	T	42971992	2	4	24	1	0	0	0	0	0	0	0	1	9833	796	28	3		3	MRPL32	7	42971992	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10		42971992	116166671	49	4152											
AZGP1	563	broad.mit.edu;bcgsc.ca	37	chr7	99564732	99564732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactgccaccaccacccagGactggtaagtgccatttcca	8	16	0	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:99564732G>A	ENST00000292401.4	-	4	927	c.791C>T	c.(790-792)tCc>tTc	p.S264F	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	264	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACCACCCAGGACTGGTAAGT	0.637																																					p.S264F		.											.	AZGP1-515	0			c.C791T						.						73	55	61					7																	99564732		2203	4300	6503	SO:0001583	missense	563	exon4			ACCCAGGACTGGT	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.791C>T	7.37:g.99564732G>A	ENSP00000292401:p.Ser264Phe	Somatic	238	1		WXS	Illumina GAIIx	Phase_I	349	14	NM_001185	0	0	0	0	0	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836385	0.32421	.	.	ENSG00000160862	ENST00000292401	T	0.02812	4.15	2.17	1.03	0.20045	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.620952	0.12281	U	0.482886	T	0.06234	0.0161	L	0.46741	1.465	0.80722	D	1	D	0.59767	0.986	P	0.59703	0.862	T	0.50048	-0.8873	10	0.87932	D	0	.	2.9355	0.05814	0.1916:0.2999:0.5085:0.0	.	264	P25311	ZA2G_HUMAN	F	264	ENSP00000292401:S264F	ENSP00000292401:S264F	S	-	2	0	AZGP1	99402668	0.002000	0.14202	0.995000	0.50966	0.171000	0.22731	0.208000	0.17415	1.130000	0.42092	0.313000	0.20887	TCC	.		0.637	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		A	99564732	G	A	99564732	3	1	24	1	0	0	0	0	1	0	0	0	1240	1174	41	3	109	3	AZGP1	7	99564732	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	56592740	99564732	59573931	50	4153											
CADPS2	93664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	122056123	122056123	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaggtcatcacctctgcatGatgctcttcattctgctgta	7	12	6	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:122056123G>C	ENST00000449022.2	-	18	2591	c.2572C>G	c.(2572-2574)Cat>Gat	p.H858D	CADPS2_ENST00000313070.7_Missense_Mutation_p.H855D|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.H855D|CADPS2_ENST00000334010.7_Missense_Mutation_p.H859D	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	858	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACCTCTGCATGATGCTCTTCA	0.448																																					p.H865D		.											.	CADPS2-94	0			c.C2593G						.						60	57	58					7																	122056123		1895	4114	6009	SO:0001583	missense	93664	exon19			CTGCATGATGCTC		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2572C>G	7.37:g.122056123G>C	ENSP00000398481:p.His858Asp	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	59	12	NM_001167940	0	0	0	0	0	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.6|23.6|23.6	4.440057|4.440057|4.440057	0.83993|0.83993|0.83993	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699|ENST00000397721	T;T;T;T|.|.	0.53206|.|.	0.63;0.66;0.63;0.63|.|.	5.86|5.86|5.86	5.86|5.86|5.86	0.93980|0.93980|0.93980	Calcium-dependent secretion activator (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.75917|0.75917|.	0.3915|0.3915|.	M|M|M	0.67397|0.67397|0.67397	2.05|2.05|2.05	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.76494|.|.	0.997;0.999;0.997;0.989|.|.	D;D;D;D|.|.	0.83275|.|.	0.996;0.953;0.996;0.985|.|.	T|T|.	0.72724|0.72724|.	-0.4207|-0.4207|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-19.2254|-19.2254|-19.2254	20.1813|20.1813|20.1813	0.98205|0.98205|0.98205	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	865;855;858;855|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	D|M|X	31;855;859;866;822;855;858|51|503	ENSP00000325581:H855D;ENSP00000333940:H859D;ENSP00000400401:H855D;ENSP00000398481:H858D|.|.	ENSP00000325581:H855D|.|.	H|I|S	-|-|-	1|3|2	0|3|0	CADPS2|CADPS2|CADPS2	121843359|121843359|121843359	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.959000|0.959000|0.959000	0.62525|0.62525|0.62525	8.945000|8.945000|8.945000	0.92985|0.92985|0.92985	2.763000|2.763000|2.763000	0.94921|0.94921|0.94921	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	CAT|ATC|TCA	.		0.448	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		C	122056123	G	C	122056123	3	2	24	1	0	0	0	0	1	0	0	0	2578	1290	45	3	1389	3	CADPS2	7	122056123	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	22491391	122056123	37082540	51	4154											
IQUB	154865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	123105042	123105042	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatcaattctagaatttcctGagttagtttacattcatgtt	5	6	3	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:123105042G>A	ENST00000466202.1	-	10	2179	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.Q535*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.Q535*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	535					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGAATTTCCTGAGTTAGTTTA	0.323																																					p.Q535X		.											.	IQUB-156	0			c.C1603T						.						115	126	122					7																	123105042		2203	4298	6501	SO:0001587	stop_gained	154865	exon10			TTTCCTGAGTTAG	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1603C>T	7.37:g.123105042G>A	ENSP00000417769:p.Gln535*	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	68	12	NM_178827	0	0	0	0	0	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137039	0.97315	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.41	5.41	0.78517	.	0.340572	0.34828	N	0.003660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.582	0.84717	0.0:0.13:0.87:0.0	.	.	.	.	X	535	.	ENSP00000324882:Q535X	Q	-	1	0	IQUB	122892278	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.682000	0.46934	2.702000	0.92279	0.643000	0.83706	CAG	.		0.323	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123105042	G	A	123105042	4	1	24	1	0	0	0	0	0	1	0	0	7847	1299	45	3	788	3	IQUB	7	123105042	Nonsense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	1048919	123105042	36033621	52	4155											
OR6B1	135946	bcgsc.ca	37	chr7	143701516	143701516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccatgggctctgcttcCgcctcgctcttggttcctgg	12	14	2	1	rs7787378	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:143701516C>T	ENST00000408922.2	+	1	495	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	143			R -> C (in dbSNP:rs7787378).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCTCTGCTTCCGCCTCGCTCT	0.562													C|||	813	0.16234	0.0764	0.3674	5008	,	,		21958	0.2411		0.0885	False		,,,				2504	0.1278				p.R143C		.											.	OR6B1-91	0			c.C427T						.	C	CYS/ARG	303,3985		11,281,1852	80	83	82		427	5.3	0.5	7	dbSNP_116	82	796,7768		49,698,3535	yes	missense	OR6B1	NM_001005281.1	180	60,979,5387	TT,TC,CC		9.2947,7.0662,8.5512	benign	143/312	143701516	1099,11753	2144	4282	6426	SO:0001583	missense	135946	exon1			TGCTTCCGCCTCG		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.427C>T	7.37:g.143701516C>T	ENSP00000386151:p.Arg143Cys	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	223	7	NM_001005281	0	0	0	0	0	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	CCDS43667.1	358	0.16391941391941392	38	0.07723577235772358	111	0.30662983425414364	141	0.2465034965034965	68	0.08970976253298153	C	8.409	0.843804	0.16963	0.070662	0.092947	ENSG00000221813	ENST00000408922	T	0.00123	8.7	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.415982	0.17515	U	0.171466	T	0.00012	0.0000	L	0.28458	0.855	0.41184	P	0.013746000000000036	B	0.09022	0.002	B	0.18561	0.022	T	0.50955	-0.8766	9	0.34782	T	0.22	.	14.2547	0.66043	0.0:1.0:0.0:0.0	rs7787378;rs52795515;rs7787378	143	O95007	OR6B1_HUMAN	C	143	ENSP00000386151:R143C	ENSP00000386151:R143C	R	+	1	0	OR6B1	143332449	0.022000	0.18835	0.511000	0.27724	0.142000	0.21351	1.965000	0.40471	2.739000	0.93911	0.655000	0.94253	CGC	C|0.853;N|0.000		0.562	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			T	143701516	C	T	143701516	3	4	24	1	0	0	0	0	1	0	0	0	11226	652	23	1	429	1	OR6B1	7	143701516	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	20596474	143701516	15437147	53	4156											
CTAGE4	100128553	broad.mit.edu	37	chr7	143882673	143882673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagcaactggccctggcCttattcctccacctcttgct	7	15	1	1	rs201010806	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:143882673C>T	ENST00000486333.1	+	1	2115	c.2077C>T	c.(2077-2079)Ctt>Ttt	p.L693F		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	693	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TGGCCCTGGCCTTATTCCTCC	0.488																																					p.L693F		.											.	.	0			c.C2077T						.						3	4	4					7																	143882673		116	650	766	SO:0001583	missense	100128553	exon1			CCTGGCCTTATTC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2077C>T	7.37:g.143882673C>T	ENSP00000419539:p.Leu693Phe	Somatic	57	1		WXS	Illumina GAIIx	Phase_I	95	4	NM_198495	0	0	0	1	1	A8K871|O95046	Missense_Mutation	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	0.639	-0.814097	0.02798	.	.	ENSG00000225932	ENST00000486333	T	0.05447	3.44	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.00016	-2.855	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	7	0.02654	T	1	.	.	.	.	.	693	Q8IX94	CTGE4_HUMAN	F	693	ENSP00000419539:L693F	ENSP00000419539:L693F	L	+	1	0	CTAGE4	143513606	0.830000	0.29337	0.003000	0.11579	0.003000	0.03518	0.348000	0.20031	-1.497000	0.01826	-1.514000	0.00941	CTT	.		0.488	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		T	143882673	C	T	143882673	3	4	24	1	0	0	0	0	1	0	0	0	4002	681	24	3	2079	3	CTAGE4	7	143882673	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	181157	143882673	15255990	54	4157											
PDIA4	9601	hgsc.bcm.edu	37	chr7	148725417	148725417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcttgccgctcaccctcGtccgggccctcggcacccgc	11	22	1	0	rs368592590	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr7:148725417G>T	ENST00000286091.4	-	1	316	c.84C>A	c.(82-84)gaC>gaA	p.D28E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	28	Thioredoxin 1. {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)			GCTCACCCTCGTCCGGGCCCT	0.766													G|||	3	0.000599042	0	0	5008	,	,		9672	0		0.003	False		,,,				2504	0				p.D28E		.											.	PDIA4-524	0			c.C84A						.	G	GLU/ASP	2,3246		0,2,1622	4	6	6		84	4.7	0.9	7		6	6,5918		0,6,2956	no	missense	PDIA4	NM_004911.4	45	0,8,4578	TT,TG,GG		0.1013,0.0616,0.0872	benign	28/646	148725417	8,9164	1624	2962	4586	SO:0001583	missense	9601	exon1			ACCCTCGTCCGGG	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.84C>A	7.37:g.148725417G>T	ENSP00000286091:p.Asp28Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_004911	0	0	0	0	0	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	5.261	0.233586	0.09969	6.16E-4	0.001013	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.45668	2.28;0.89	5.58	4.69	0.59074	Thioredoxin-like fold (1);	1.385570	0.04197	N	0.329265	T	0.25195	0.0612	N	0.08118	0	0.24603	N	0.993766	B	0.20887	0.049	B	0.17979	0.02	T	0.12066	-1.0562	10	0.02654	T	1	.	11.8705	0.52517	0.0822:0.0:0.9178:0.0	.	28	P13667	PDIA4_HUMAN	E	28	ENSP00000286091:D28E;ENSP00000408628:D28E	ENSP00000286091:D28E	D	-	3	2	PDIA4	148356350	0.691000	0.27709	0.932000	0.37286	0.283000	0.27025	1.045000	0.30341	1.344000	0.45657	0.655000	0.94253	GAC	.		0.766	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148725417	G	T	148725417	3	4	24	1	0	0	0	0	1	0	0	0	11709	1136	40	2	1893	2	PDIA4	7	148725417	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	4842744	148725417	10413246	55	4158											
COL14A1	7373	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	121290694	121290694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaagcaattaagtatgttCgagataccttgttcactgca	8	7	1	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr8:121290694C>T	ENST00000297848.3	+	28	3628	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R1120*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R1025*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGTATGTTCGAGATACCTT	0.398																																					p.R1120X		.											.	COL14A1-543	0			c.C3358T						.						88	80	83					8																	121290694		2203	4300	6503	SO:0001587	stop_gained	7373	exon28			TATGTTCGAGATA		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3358C>T	8.37:g.121290694C>T	ENSP00000297848:p.Arg1120*	Somatic	163	2		WXS	Illumina GAIIx	Phase_I	241	44	NM_021110	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	43	9.881912	0.99286	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.4	5.4	0.78164	.	0.057304	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.894	0.79322	0.1358:0.8642:0.0:0.0	.	.	.	.	X	1120;1120;1025	.	ENSP00000247781:R1025X	R	+	1	2	COL14A1	121359875	0.992000	0.36948	1.000000	0.80357	0.902000	0.53008	2.592000	0.46171	2.692000	0.91855	0.650000	0.86243	CGA	.		0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121290694	C	T	121290694	4	4	24	1	0	0	0	0	0	1	0	0	3678	876	31	1	3464	1	COL14A1	8	121290694	Nonsense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10		121290694	25073328	56	4159											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000527096.1_Silent_p.A1583A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	24	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	23708723	144999417	1364605	57	4160											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	24	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		5832728	135380703	58	4161											
NTRK2	4915	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	87570307	87570307	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgcgggcatggtctacCtggcgtcccagcacttcgtg	13	15	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr9:87570307C>G	ENST00000323115.4	+	15	2352	c.1999C>G	c.(1999-2001)Ctg>Gtg	p.L667V	NTRK2_ENST00000376213.1_Missense_Mutation_p.L667V|NTRK2_ENST00000277120.3_Missense_Mutation_p.L683V|NTRK2_ENST00000376214.1_Missense_Mutation_p.L683V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CATGGTCTACCTGGCGTCCCA	0.627										TSP Lung(25;0.17)																											p.L683V		.											.	NTRK2-1404	0			c.C2047G						.						54	50	52					9																	87570307		2203	4300	6503	SO:0001583	missense	4915	exon19			GTCTACCTGGCGT	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1999C>G	9.37:g.87570307C>G	ENSP00000314586:p.Leu667Val	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	130	30	NM_006180	0	0	0	0	0	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366892	0.82463	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	4.98	4.07	0.47477	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	0.000001	D	0.96037	0.8709	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.962;0.992	D	0.96116	0.9081	10	0.87932	D	0	.	11.1562	0.48489	0.0:0.8532:0.0:0.1468	.	667;683;713	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	V	683;667;683;667	ENSP00000365387:L683V;ENSP00000365386:L667V;ENSP00000277120:L683V;ENSP00000314586:L667V	ENSP00000277120:L683V	L	+	1	2	NTRK2	86760127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.931000	0.40134	2.320000	0.78422	0.655000	0.94253	CTG	.		0.627	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			G	87570307	C	G	87570307	3	3	24	1	0	0	0	0	1	0	0	0	10746	680	24	3	2184	3	NTRK2	9	87570307	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	81737579	87570307	53643124	59	4162											
SVEP1	79987	bcgsc.ca	37	chr9	113261483	113261483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggggggatatgatgaCatctttgggcatctgaaagg	16	4	2	3	rs872665	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr9:113261483C>T	ENST00000401783.2	-	7	1855	c.1519G>A	c.(1519-1521)Gtc>Atc	p.V507I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V484I|SVEP1_ENST00000374461.1_Missense_Mutation_p.V484I|SVEP1_ENST00000302728.8_Missense_Mutation_p.V507I|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	507	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.		V -> I (in dbSNP:rs872665).		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						GATATGATGACATCTTTGGGC	0.463													C|||	1340	0.267572	0.3533	0.2622	5008	,	,		18368	0.1825		0.2535	False		,,,				2504	0.2577				p.V507I		.											.	SVEP1-75	0			c.G1519A						.	C	ILE/VAL	1226,2836		190,846,995	54	53	54		1519	5.9	1	9	dbSNP_86	54	2174,6228		277,1620,2304	yes	missense	SVEP1	NM_153366.3	29	467,2466,3299	TT,TC,CC		25.8748,30.1822,27.2786	probably-damaging	507/3572	113261483	3400,9064	2031	4201	6232	SO:0001583	missense	79987	exon7			TGATGACATCTTT	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.1519G>A	9.37:g.113261483C>T	ENSP00000384917:p.Val507Ile	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	160	6	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	553	0.2532051282051282	170	0.34552845528455284	90	0.24861878453038674	102	0.17832167832167833	191	0.2519788918205805	C	6.191	0.403446	0.11754	0.301822	0.258748	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (2);	0.116309	0.64402	D	0.000020	T	0.00012	0.0000	L	0.36672	1.1	0.27382	P	0.9553831	D;B;D	0.67145	0.983;0.355;0.996	P;B;D	0.77557	0.753;0.1;0.99	T	0.03433	-1.1037	9	0.02654	T	1	.	19.0678	0.93119	0.0:1.0:0.0:0.0	rs872665;rs3818765;rs52802511;rs60471347;rs872665	507;507;507	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	I	507;484;507;484	ENSP00000384917:V507I;ENSP00000363593:V484I;ENSP00000304118:V507I;ENSP00000363585:V484I	ENSP00000304118:V507I	V	-	1	0	SVEP1	112301304	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	2.265000	0.43311	2.813000	0.96785	0.655000	0.94253	GTC	C|0.731;T|0.269		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113261483	C	T	113261483	3	4	24	1	0	0	0	0	1	0	0	0	15467	478	17	3	9364	3	SVEP1	9	113261483	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	25691176	113261483	27951948	60	4163											
C10orf47	254427	hgsc.bcm.edu	37	chr10	11912332	11912332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcaccgtgcagttcgCgggccgcggctcctcggagg	17	14	1	0	rs12253554	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr10:11912332C>T	ENST00000277570.5	+	4	1389	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	PROSER2_ENST00000379200.1_Missense_Mutation_p.A216V|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	412			A -> V (in dbSNP:rs12253554). {ECO:0000269|PubMed:15489334}.														GTGCAGTTCGCGGGCCGCGGC	0.771													C|||	358	0.0714856	0.0946	0.0476	5008	,	,		9233	0.001		0.0775	False		,,,				2504	0.1237				p.A412V		.											.	.	0			c.C1235T						.	C	VAL/ALA	112,1534		0,112,711	1	1	1		1235	5.3	0.9	10	dbSNP_120	1	187,3499		0,187,1656	no	missense	C10orf47	NM_153256.3	64	0,299,2367	TT,TC,CC		5.0733,6.8044,5.6077	possibly-damaging	412/436	11912332	299,5033	823	1843	2666	SO:0001583	missense	254427	exon4			AGTTCGCGGGCCG	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1235C>T	10.37:g.11912332C>T	ENSP00000277570:p.Ala412Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_153256	0	0	0	0	0	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	CCDS7085.1	143	0.06547619047619048	60	0.12195121951219512	22	0.06077348066298342	1	0.0017482517482517483	60	0.079155672823219	C	22.4	4.285312	0.80803	0.068044	0.050733	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202;ENST00000379200	T;T	0.08984	3.03;3.03	5.3	5.3	0.74995	.	0.302100	0.28895	N	0.013796	T	0.00178	0.0005	L	0.29908	0.895	0.35518	P	0.19877100000000003	D	0.62365	0.991	P	0.47044	0.535	T	0.17531	-1.0366	9	0.87932	D	0	-13.0271	17.9268	0.88986	0.0:1.0:0.0:0.0	rs12253554;rs17851504	412	Q86WR7	CJ047_HUMAN	V	318;412;319;216	ENSP00000277570:A412V;ENSP00000368498:A216V	ENSP00000277570:A412V	A	+	2	0	C10orf47	11952338	0.998000	0.40836	0.879000	0.34478	0.186000	0.23388	4.734000	0.62043	2.476000	0.83614	0.313000	0.20887	GCG	C|0.935;T|0.065		0.771	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		T	11912332	C	T	11912332	3	4	24	1	0	0	0	0	1	0	0	0	1610	768	27	1	1245	1	C10orf47	10	11912332	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10		11912332	123622415	61	4164											
NFKB2	4791	broad.mit.edu	37	chr10	104160223	104160223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcctgctgtgccccaGctgttgcatatgcctgactt	11	13	0	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr10:104160223G>T	ENST00000369966.3	+	16	2023	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	NFKB2_ENST00000428099.1_Missense_Mutation_p.Q591H|NFKB2_ENST00000189444.6_Missense_Mutation_p.Q591H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	591					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)	p.Q591H(1)		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)	CTGTGCCCCAGCTGTTGCATA	0.632			T	IGH@	B-NHL																																p.Q591H		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	1	Substitution - Missense(1)	endometrium(1)	c.G1773T						.						23	24	24					10																	104160223		2107	4231	6338	SO:0001583	missense	4791	exon16			GCCCCAGCTGTTG	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.1773G>T	10.37:g.104160223G>T	ENSP00000358983:p.Gln591His	Somatic	75	1		WXS	Illumina GAIIx	Phase_I	79	6	NM_001077494	0	0	53	59	6	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766790	0.31320	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.35421	1.31;1.31;1.31	4.51	-3.27	0.05048	Ankyrin repeat-containing domain (3);	0.182470	0.47093	D	0.000255	T	0.17577	0.0422	L	0.33485	1.01	0.20307	N	0.999914	B;B	0.21381	0.026;0.055	B;B	0.19148	0.006;0.024	T	0.22556	-1.0213	10	0.14656	T	0.56	.	4.6114	0.12404	0.6265:0.1017:0.1692:0.1026	.	591;591	Q00653;A8K9D9	NFKB2_HUMAN;.	H	591	ENSP00000410256:Q591H;ENSP00000358983:Q591H;ENSP00000189444:Q591H	ENSP00000189444:Q591H	Q	+	3	2	NFKB2	104150213	0.000000	0.05858	0.149000	0.22428	0.323000	0.28346	-1.671000	0.01954	-0.773000	0.04596	0.561000	0.74099	CAG	.		0.632	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104160223	G	T	104160223	3	4	24	1	0	0	0	0	1	0	0	0	10415	962	34	3	1831	3	NFKB2	10	104160223	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	92247891	104160223	31374524	62	4165											
GPAM	57678	bcgsc.ca	37	chr10	113920465	113920465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgataaaaaactcatcGttcctgctagtgtgggtgat	13	6	1	2	rs2277207	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr10:113920465G>A	ENST00000348367.4	-	16	1853	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	GPAM_ENST00000423155.1_Silent_p.N552N|GPAM_ENST00000369425.1_Silent_p.N552N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	552					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAAACTCATCGTTCCTGCTAG	0.453													G|||	2772	0.553514	0.528	0.4553	5008	,	,		19398	0.6002		0.5437	False		,,,				2504	0.6196				p.N552N	Ovarian(161;1017 2606 18293 52943)	.											.	GPAM-92	0			c.C1656T						.	G		2218,2188	590.7+/-387.4	553,1112,538	153	126	135		1656	-12.1	0	10	dbSNP_100	135	5045,3555	630.2+/-398.3	1498,2049,753	no	coding-synonymous	GPAM	NM_020918.4		2051,3161,1291	AA,AG,GG		41.3372,49.6596,44.1565		552/829	113920465	7263,5743	2203	4300	6503	SO:0001819	synonymous_variant	57678	exon16			CTCATCGTTCCTG	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1656C>T	10.37:g.113920465G>A		Somatic	267	3		WXS	Illumina GAIIx	Phase_I	305	9	NM_001244949	0	0	1	1	0	Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	CCDS7570.1																																																																																			G|0.445;A|0.555		0.453	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113920465	G	A	113920465	2	1	24	1	0	0	0	0	0	0	0	1	6614	1136	40	1		1	GPAM	10	113920465	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	9760242	113920465	21614282	63	4166											
JAKMIP3	282973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	133951636	133951636	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggagcgggacaagcTgttaagattccggaagcaaa	13	9	0	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr10:133951636T>A	ENST00000298622.4	+	8	1436	c.1298T>A	c.(1297-1299)cTg>cAg	p.L433Q		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	433						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGGACAAGCTGTTAAGATTC	0.542																																					p.L433Q		.											.	JAKMIP3-23	0			c.T1298A						.						59	60	59					10																	133951636		1983	4155	6138	SO:0001583	missense	282973	exon8			ACAAGCTGTTAAG	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1298T>A	10.37:g.133951636T>A	ENSP00000298622:p.Leu433Gln	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	95	18	NM_001105521	0	0	0	0	0	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500129	0.44455	.	.	ENSG00000188385	ENST00000298622	T	0.29397	1.57	4.78	4.78	0.61160	.	0.097810	0.41823	D	0.000801	T	0.49321	0.1550	M	0.71206	2.165	0.45883	D	0.998734	D	0.89917	1.0	D	0.91635	0.999	T	0.44620	-0.9316	10	0.25751	T	0.34	-8.1584	9.1448	0.36925	0.162:0.0:0.0:0.838	.	433	Q5VZ66	JKIP3_HUMAN	Q	433	ENSP00000298622:L433Q	ENSP00000298622:L433Q	L	+	2	0	JAKMIP3	133801626	1.000000	0.71417	0.812000	0.32479	0.205000	0.24178	4.532000	0.60608	1.919000	0.55581	0.529000	0.55759	CTG	.		0.542	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		A	133951636	T	A	133951636	3	1	24	1	0	0	0	0	1	0	0	0	7969	1580	55	5	1328	5	JAKMIP3	10	133951636	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	20031171	133951636	1583111	64	4167											
MUC6	4588	bcgsc.ca	37	chr11	1016871	1016871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggacctgtggaagagaagGgactgctccctgtaggtggg	17	7	0	1	rs554068781		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr11:1016871G>T	ENST00000421673.2	-	31	5980	c.5930C>A	c.(5929-5931)cCc>cAc	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	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)		GGAAGAGAAGGGACTGCTCCC	0.587																																					p.P1977H		.											.	MUC6-23	0			c.C5930A						.						1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588	exon31			GAGAAGGGACTGC	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.5930C>A	11.37:g.1016871G>T	ENSP00000406861:p.Pro1977His	Somatic	1925	43		WXS	Illumina GAIIx	Phase_I	1100	38	NM_005961	0	0	0	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923756	0.34002	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	1.71	0.24356	.	.	.	.	.	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B	0.29212	0.237	B	0.28553	0.091	T	0.22382	-1.0218	9	0.56958	D	0.05	.	7.0992	0.25327	0.0:0.0:0.7301:0.2699	.	1977	Q6W4X9	MUC6_HUMAN	H	1977	ENSP00000406861:P1977H	ENSP00000406861:P1977H	P	-	2	0	MUC6	1006871	0.015000	0.18098	0.001000	0.08648	0.026000	0.11368	1.250000	0.32850	0.416000	0.25844	0.306000	0.20318	CCC	.		0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016871	G	T	1016871	3	4	24	1	0	0	0	0	1	0	0	0	10018	1232	43	3	1401	3	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		1016871	133989645	65	4168											
RAPSN	5913	ucsc.edu	37	chr11	47469439	47469439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcatcattgttgtgggcAtagcgcagggccttctcgaa	13	10	3	0	rs7111873	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr11:47469439A>G	ENST00000298854.2	-	2	669	c.456T>C	c.(454-456)taT>taC	p.Y152Y	RAPSN_ENST00000524487.1_Silent_p.Y152Y|RAPSN_ENST00000352508.3_Silent_p.Y152Y|RAPSN_ENST00000529341.1_Silent_p.Y152Y	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	152					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						TGTTGTGGGCATAGCGCAGGG	0.647													G|||	3133	0.625599	0.3472	0.6902	5008	,	,		21049	0.6587		0.7068	False		,,,				2504	0.8384				p.Y152Y		.											.	RAPSN-91	0			c.T456C						.	G	,	1879,2523	621.2+/-393.7	416,1047,738	46	37	40		456,456	-6.8	0.8	11	dbSNP_116	40	6180,2414	393.4+/-344.3	2225,1730,342	no	coding-synonymous,coding-synonymous	RAPSN	NM_005055.4,NM_032645.4	,	2641,2777,1080	GG,GA,AA		28.0894,42.6851,37.9886	,	152/413,152/354	47469439	8059,4937	2201	4297	6498	SO:0001819	synonymous_variant	5913	exon2			GTGGGCATAGCGC		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.456T>C	11.37:g.47469439A>G		Somatic	59	1		WXS	Illumina GAIIx	Phase_I	48	5	NM_032645	0	0	0	0	0	Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																			A|0.389;G|0.611		0.647	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			G	47469439	A	G	47469439	2	3	24	1	0	0	0	0	0	0	0	1	13096	224	8	4		4	RAPSN	11	47469439	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	46452568	47469439	87537077	66	4169											
CCDC88B	283234	hgsc.bcm.edu	37	chr11	64112394	64112394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagcaagcccggctgcGggaggcagtggaggctgctg	20	10	0	0	rs143386417	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr11:64112394G>A	ENST00000356786.5	+	14	2425	c.2381G>A	c.(2380-2382)cGg>cAg	p.R794Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	794						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCGGCTGCGGGAGGCAGTG	0.746													G|||	31	0.0061901	0	0.0058	5008	,	,		14232	0.001		0.0239	False		,,,				2504	0.002				p.R794Q		.											.	CCDC88B-94	0			c.G2381A						.	G	GLN/ARG	8,4228		0,8,2110	8	10	9		2381	2.5	1	11	dbSNP_134	9	101,8187		0,101,4043	yes	missense	CCDC88B	NM_032251.5	43	0,109,6153	AA,AG,GG		1.2186,0.1889,0.8703	possibly-damaging	794/1477	64112394	109,12415	2118	4144	6262	SO:0001583	missense	283234	exon14			GGCTGCGGGAGGC	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2381G>A	11.37:g.64112394G>A	ENSP00000349238:p.Arg794Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	9	NM_032251	0	0	0	0	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	19	0.0086996336996337	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	17	0.022427440633245383	g	10.59	1.391736	0.25118	0.001889	0.012186	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.24723	1.84	3.45	2.52	0.30459	.	.	.	.	.	T	0.09024	0.0223	L	0.56769	1.78	0.50467	D	0.999871	P;P;P	0.51653	0.553;0.947;0.553	B;B;B	0.41646	0.032;0.362;0.032	T	0.32534	-0.9903	9	0.02654	T	1	.	6.0048	0.19541	0.2573:0.0:0.7427:0.0	.	794;443;794	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	Q	794	ENSP00000349238:R794Q	ENSP00000349238:R794Q	R	+	2	0	CCDC88B	63868970	0.014000	0.17966	0.998000	0.56505	0.960000	0.62799	0.664000	0.25068	0.747000	0.32809	0.444000	0.29173	CGG	G|0.991;A|0.009		0.746	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64112394	G	A	64112394	3	1	24	1	0	0	0	0	1	0	0	0	2871	1116	39	1	2435	1	CCDC88B	11	64112394	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	16642955	64112394	70894122	67	4170											
C2CD3	26005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73829294	73829294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatttctcttgcctgctgacCtcttcttcagcttatgatca	5	12	5	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr11:73829294C>G	ENST00000334126.7	-	9	1725	c.1499G>C	c.(1498-1500)aGg>aCg	p.R500T	C2CD3_ENST00000313663.7_Missense_Mutation_p.R500T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	500					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)					GCCTGCTGACCTCTTCTTCAG	0.408																																					p.R500T		.											.	C2CD3-75	0			c.G1499C						.						115	108	110					11																	73829294		2200	4293	6493	SO:0001583	missense	26005	exon9			GCTGACCTCTTCT	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.1499G>C	11.37:g.73829294C>G	ENSP00000334379:p.Arg500Thr	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	133	27	NM_015531	0	0	0	0	0	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466515	0.04476	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09817	2.94;2.95	5.48	-1.5	0.08691	.	1.036710	0.07503	N	0.907542	T	0.08088	0.0202	L	0.43152	1.355	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.12156	0.005;0.007	T	0.43097	-0.9412	10	0.25106	T	0.35	-1.2647	2.9703	0.05920	0.1234:0.2045:0.1334:0.5386	.	500;500	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	T	500	ENSP00000334379:R500T;ENSP00000323339:R500T	ENSP00000323339:R500T	R	-	2	0	C2CD3	73506942	0.000000	0.05858	0.002000	0.10522	0.636000	0.38137	-0.774000	0.04684	-0.008000	0.14320	0.585000	0.79938	AGG	.		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		G	73829294	C	G	73829294	3	3	24	1	0	0	0	0	1	0	0	0	2161	681	24	3	4484	3	C2CD3	11	73829294	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	9716900	73829294	61177222	68	4171			1	16		2	2	20	C		6.751134e-05
C2CD3	26005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73829313	73829313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctcttcttcagcttatgatCacttgactccagaaccttag	5	13	4	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr11:73829313C>T	ENST00000334126.7	-	9	1706	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	C2CD3_ENST00000313663.7_Missense_Mutation_p.D494N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	494					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)					AGCTTATGATCACTTGACTCC	0.398																																					p.D494N		.											.	C2CD3-75	0			c.G1480A						.						118	111	113					11																	73829313		2200	4293	6493	SO:0001583	missense	26005	exon9			TATGATCACTTGA	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.1480G>A	11.37:g.73829313C>T	ENSP00000334379:p.Asp494Asn	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	141	32	NM_015531	0	0	0	0	0	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	10.69	1.420539	0.25639	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09911	2.93;2.94	5.63	2.45	0.29901	.	0.734425	0.13451	N	0.386936	T	0.09642	0.0237	L	0.47716	1.5	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.15052	0.003;0.012	T	0.29212	-1.0019	10	0.30078	T	0.28	-2.385	6.7767	0.23624	0.0:0.5441:0.2602:0.1957	.	494;494	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	N	494	ENSP00000334379:D494N;ENSP00000323339:D494N	ENSP00000323339:D494N	D	-	1	0	C2CD3	73506961	0.000000	0.05858	0.088000	0.20740	0.831000	0.47069	0.046000	0.14035	0.761000	0.33130	0.585000	0.79938	GAT	.		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73829313	C	T	73829313	3	4	24	1	0	0	0	0	1	0	0	0	2161	826	29	3	4503	3	C2CD3	11	73829313	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	19	73829313	61177203	69	4172			1	16		2	2	20	C		6.751134e-05
PDZRN4	29951	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	41966628	41966628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcttgagtgtcagaatAtcatgcaggctcacaggctc	11	9	3	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr12:41966628A>G	ENST00000402685.2	+	10	2055	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425V|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTGTCAGAATATCATGCAGGC	0.448																																					p.I683V		.											.	PDZRN4-296	0			c.A2047G						.						99	91	94					12																	41966628		2203	4300	6503	SO:0001583	missense	29951	exon10			CAGAATATCATGC	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2047A>G	12.37:g.41966628A>G	ENSP00000384197:p.Ile683Val	Somatic	169	2		WXS	Illumina GAIIx	Phase_I	244	61	NM_001164595	0	0	0	0	0	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044479	0.55110	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.78246	-1.16;3.34;3.34	4.49	4.49	0.54785	.	0.151474	0.45126	D	0.000400	D	0.84723	0.5535	L	0.56769	1.78	0.80722	D	1	D;P;P	0.65815	0.995;0.668;0.668	D;P;P	0.74674	0.984;0.465;0.54	D	0.84465	0.0596	10	0.40728	T	0.16	-34.5847	14.4999	0.67714	1.0:0.0:0.0:0.0	.	683;423;425	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	V	683;425;423	ENSP00000384197:I683V;ENSP00000439990:I425V;ENSP00000298919:I423V	ENSP00000298919:I423V	I	+	1	0	PDZRN4	40252895	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.287000	0.95975	1.987000	0.57996	0.528000	0.53228	ATC	.		0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		G	41966628	A	G	41966628	3	3	24	1	0	0	0	0	1	0	0	0	11749	449	16	4	2158	4	PDZRN4	12	41966628	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10		41966628	91885267	70	4173											
RACGAP1	29127	broad.mit.edu	37	chr12	50400412	50400412	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaagtccttcgccaactgGataaattctgaggaaagggg	11	8	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr12:50400412G>A	ENST00000427314.2	-	5	316	c.93C>T	c.(91-93)atC>atT	p.I31I	RACGAP1_ENST00000454520.2_Silent_p.I31I|RACGAP1_ENST00000551016.1_Silent_p.I31I|RACGAP1_ENST00000547905.1_Silent_p.I31I|RACGAP1_ENST00000434422.1_Silent_p.I31I|RACGAP1_ENST00000312377.5_Silent_p.I31I	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCGCCAACTGGATAAATTCTG	0.403																																					p.I31I		.											.	RACGAP1-227	0			c.C93T						.						53	44	47					12																	50400412		2203	4300	6503	SO:0001819	synonymous_variant	29127	exon5			CAACTGGATAAAT		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.93C>T	12.37:g.50400412G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	61	6	NM_013277	0	0	0	0	0		Silent	SNP	ENST00000427314.2	37	CCDS8795.1																																																																																			.		0.403	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		A	50400412	G	A	50400412	2	1	24	1	0	0	0	0	0	0	0	1	13022	1164	41	3		3	RACGAP1	12	50400412	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	8433784	50400412	83451483	71	4174											
SOAT2	8435	hgsc.bcm.edu	37	chr12	53509339	53509340	+	Silent	DNP	GC	GC	TT													acgggcctgggctgtgcgctGctagccgcccacgccgtggt					rs34924760|rs3219200|rs3219199	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr12:53509339_53509340GC>TT	ENST00000301466.3	+	6	669_670	c.609_610GC>TT	c.(607-612)ctGCta>ctTTta	p.203_204LL>LL		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	203					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)	GCTGTGCGCTGCTAGCCGCCCA	0.713																																					p.A202A		.											.	SOAT2-91	0			c.C610T						.																																			SO:0001819	synonymous_variant	8435	exon6			GCGCTGCTAGCCG	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	Exception_encountered	12.37:g.53509339_53509340delinsTT		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_003578	0	0	0	0	0	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	DNP	ENST00000301466.3	37	CCDS8847.1																																																																																			C|0.787;T|0.213		0.713	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			TT	53509340	GC	TT	53509339	2	4	24	1	0	0	0	0	0	0	0	1	14956	1306	46	3		3	SOAT2	12	53509339	Silent	DNP	GC	TCGA-OR-A5JX-01A-11D-A29I-10	3108927	53509339	80342556	72	4175											
HOXC11	3227	hgsc.bcm.edu	37	chr12	54367597	54367597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggcctcgggactggcgtCccgggctgaggcgggtgccg	19	15	0	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr12:54367597C>T	ENST00000546378.1	+	1	688	c.572C>T	c.(571-573)tCc>tTc	p.S191F	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S191F			O43248	HXC11_HUMAN	homeobox C11	191					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GGACTGGCGTCCCGGGCTGAG	0.741			T	NUP98	AML																																p.S191F		.		Dom	yes		12	12q13.3	3227	homeo box C11		L	.	HOXC11-683	0			c.C572T						.						4	6	5					12																	54367597		1848	3605	5453	SO:0001583	missense	3227	exon1			TGGCGTCCCGGGC		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.572C>T	12.37:g.54367597C>T	ENSP00000446680:p.Ser191Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_014212	0	0	0	0	0	A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	9.237	1.037429	0.19669	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	D;T	0.91740	-2.9;1.77	4.22	4.22	0.49857	.	0.280319	0.40222	N	0.001156	D	0.83797	0.5332	N	0.08118	0	0.41546	D	0.988544	B	0.33073	0.396	B	0.32022	0.139	D	0.86073	0.1539	10	0.87932	D	0	.	15.8882	0.79269	0.0:1.0:0.0:0.0	.	191	O43248	HXC11_HUMAN	F	191	ENSP00000446680:S191F;ENSP00000243082:S191F	ENSP00000243082:S191F	S	+	2	0	HOXC11	52653864	0.987000	0.35691	1.000000	0.80357	0.508000	0.34012	1.585000	0.36600	2.343000	0.79666	0.561000	0.74099	TCC	.		0.741	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			T	54367597	C	T	54367597	3	4	24	1	0	0	0	0	1	0	0	0	7337	855	30	3	574	3	HOXC11	12	54367597	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	858258	54367597	79484298	73	4176											
GLIPR1	11010	broad.mit.edu	37	chr12	75892747	75892747	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acaagtaccctaatttagttCttttggactaatacaattca	4	8	2	0	rs200527675		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr12:75892747C>G	ENST00000266659.3	+	6	991	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	KRR1_ENST00000229214.4_3'UTR	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	264					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TAATTTAGTTCTTTTGGACTA	0.299																																					p.L264V		.											.	GLIPR1-159	0			c.C790G						.						80	76	77					12																	75892747		2201	4299	6500	SO:0001583	missense	11010	exon6			TTAGTTCTTTTGG	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.790C>G	12.37:g.75892747C>G	ENSP00000266659:p.Leu264Val	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	48	3	NM_006851	0	0	29	29	0	A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065452	0.20067	.	.	ENSG00000139278	ENST00000266659	T	0.11063	2.81	5.08	-0.44	0.12261	.	1.391670	0.04303	N	0.347721	T	0.10165	0.0249	L	0.47716	1.5	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.36383	-0.9750	10	0.35671	T	0.21	.	3.5194	0.07736	0.4257:0.3533:0.1383:0.0826	.	264	P48060	GLIP1_HUMAN	V	264	ENSP00000266659:L264V	ENSP00000266659:L264V	L	+	1	0	GLIPR1	74179014	0.555000	0.26530	0.001000	0.08648	0.699000	0.40488	0.613000	0.24299	0.026000	0.15269	0.491000	0.48974	CTT	C|0.999;A|0.001		0.299	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		G	75892747	C	G	75892747	3	3	24	1	0	0	0	0	1	0	0	0	6467	913	32	3	812	3	GLIPR1	12	75892747	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	21525150	75892747	57959148	74	4177											
AKAP11	11215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	42874405	42874405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcttcgtacccaccAtactaataccctatcaaata	2	14	3	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr13:42874405A>G	ENST00000025301.2	+	8	1698	c.1523A>G	c.(1522-1524)cAt>cGt	p.H508R		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	508					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)		CGTACCCACCATACTAATACC	0.299																																					p.H508R		.											.	AKAP11-227	0			c.A1523G						.						68	69	69					13																	42874405		2203	4299	6502	SO:0001583	missense	11215	exon8			CCCACCATACTAA	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.1523A>G	13.37:g.42874405A>G	ENSP00000025301:p.His508Arg	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	75	20	NM_016248	0	0	0	0	0	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	0.948	-0.707207	0.03230	.	.	ENSG00000023516	ENST00000025301	T	0.48522	0.81	5.63	0.322	0.15888	.	0.610881	0.17589	N	0.168822	T	0.35537	0.0935	M	0.63428	1.95	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.17745	-1.0359	10	0.30854	T	0.27	.	1.9061	0.03278	0.4875:0.2515:0.1395:0.1215	.	508	Q9UKA4	AKA11_HUMAN	R	508	ENSP00000025301:H508R	ENSP00000025301:H508R	H	+	2	0	AKAP11	41772405	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.305000	0.19254	0.473000	0.27368	0.477000	0.44152	CAT	.		0.299	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		G	42874405	A	G	42874405	3	3	24	1	0	0	0	0	1	0	0	0	447	217	8	4	1545	4	AKAP11	13	42874405	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10		42874405	72295473	75	4178											
CYSLTR2	57105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	49281360	49281360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgctgagtgttgtgcGtttcctggcaatggttcacc	13	10	1	1	rs201503697		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr13:49281360G>A	ENST00000282018.3	+	1	410	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	136					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.R136H(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGTGTTGTGCGTTTCCTGGCA	0.473																																					p.R136H		.											.	CYSLTR2-278	1	Substitution - Missense(1)	large_intestine(1)	c.G407A						.	G	HIS/ARG	0,4406		0,0,2203	224	214	217		407	6.1	1	13		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYSLTR2	NM_020377.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	136/347	49281360	1,13005	2203	4300	6503	SO:0001583	missense	57105	exon1			TTGTGCGTTTCCT	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.407G>A	13.37:g.49281360G>A	ENSP00000282018:p.Arg136His	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	116	32	NM_020377	0	0	0	0	0	Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482943	0.96307	0.0	1.16E-4	ENSG00000152207	ENST00000282018	D	0.97161	-4.27	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99121	0.9697	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99078	1.0836	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	136	Q9NS75	CLTR2_HUMAN	H	136	ENSP00000282018:R136H	ENSP00000282018:R136H	R	+	2	0	CYSLTR2	48179361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.894000	0.99253	0.655000	0.94253	CGT	.		0.473	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			A	49281360	G	A	49281360	3	1	24	1	0	0	0	0	1	0	0	0	4211	1145	40	1	409	1	CYSLTR2	13	49281360	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	6406955	49281360	65888518	76	4179											
KLHL28	54813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45403706	45403706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaattcatagcgaggaaTgtttaggggtgccaaaccaa	10	8	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr14:45403706T>C	ENST00000396128.4	-	3	1074	c.955A>G	c.(955-957)Att>Gtt	p.I319V	KLHL28_ENST00000355081.2_Missense_Mutation_p.I333V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	319										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAGCGAGGAATGTTTAGGGGT	0.363																																					p.I319V		.											.	KLHL28-91	0			c.A955G						.						58	56	57					14																	45403706		2203	4300	6503	SO:0001583	missense	54813	exon3			GAGGAATGTTTAG	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.955A>G	14.37:g.45403706T>C	ENSP00000379434:p.Ile319Val	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	132	47	NM_017658	0	0	1	1	0	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	7.765	0.706318	0.15239	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.73575	-0.76;-0.76	5.38	5.38	0.77491	Kelch-type beta propeller (1);	0.267689	0.43110	D	0.000619	T	0.51312	0.1667	N	0.10733	0.035	0.33131	D	0.543044	B	0.02656	0.0	B	0.01281	0.0	T	0.56080	-0.8038	10	0.45353	T	0.12	.	5.9681	0.19336	0.1469:0.0782:0.0:0.7748	.	319	Q9NXS3	KLH28_HUMAN	V	319;333	ENSP00000379434:I319V;ENSP00000347193:I333V	ENSP00000347193:I333V	I	-	1	0	KLHL28	44473456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.547000	0.53663	2.157000	0.67596	0.455000	0.32223	ATT	.		0.363	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			C	45403706	T	C	45403706	3	2	24	1	0	0	0	0	1	0	0	0	8409	1464	51	4	772	4	KLHL28	14	45403706	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10		45403706	61945834	77	4180											
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45639809	45639809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaatgaggcaaagtagcCtaaagaaagattggttctta	11	4	1	3			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr14:45639809C>A	ENST00000267430.5	+	12	2105	c.2020C>A	c.(2020-2022)Cta>Ata	p.L674I	FANCM_ENST00000542564.2_Missense_Mutation_p.L648I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	674					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCAAAGTAGCCTAAAGAAAGA	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.L674I		.											.	FANCM-569	0			c.C2020A						.						44	48	46					14																	45639809		2201	4297	6498	SO:0001583	missense	57697	exon12	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGTAGCCTAAAGA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2020C>A	14.37:g.45639809C>A	ENSP00000267430:p.Leu674Ile	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	106	34	NM_020937	0	0	0	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.440387	0.01098	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18338	2.79;2.79;2.22	5.35	4.22	0.49857	.	2.644850	0.00763	N	0.001158	T	0.16896	0.0406	L	0.33485	1.01	0.20074	N	0.999938	B;B	0.17465	0.022;0.013	B;B	0.11329	0.006;0.006	T	0.33854	-0.9852	10	0.20519	T	0.43	.	9.5651	0.39394	0.0:0.0861:0.0:0.9139	.	648;674	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	I	674;648;190	ENSP00000267430:L674I;ENSP00000442493:L648I;ENSP00000452033:L190I	ENSP00000267430:L674I	L	+	1	2	FANCM	44709559	0.003000	0.15002	0.262000	0.24481	0.075000	0.17131	1.049000	0.30392	0.876000	0.35872	-0.367000	0.07326	CTA	.		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45639809	C	A	45639809	3	1	24	1	0	0	0	0	1	0	0	0	5693	680	24	3	2066	3	FANCM	14	45639809	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	236103	45639809	61709731	78	4181											
FBXO34	55030	bcgsc.ca	37	chr14	55818706	55818706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctgagccatttgtacTgccagcctcttctgtggaaa	10	11	3	1	rs3742569	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr14:55818706T>C	ENST00000313833.4	+	2	1843	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	FBXO34_ENST00000440021.1_Missense_Mutation_p.L533P	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	533			L -> P (in dbSNP:rs3742569). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.					p.L533P(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCATTTGTACTGCCAGCCTCT	0.502													t|||	1992	0.397764	0.4713	0.3314	5008	,	,		19439	0.3185		0.4245	False		,,,				2504	0.3998				p.L533P		.											.	FBXO34-228	1	Substitution - Missense(1)	stomach(1)	c.T1598C						.	C	PRO/LEU,PRO/LEU	1984,2422	617.4+/-393.0	424,1136,643	130	126	127		1598,1598	-1.4	0	14	dbSNP_107	127	3629,4971	625.6+/-397.7	784,2061,1455	yes	missense,missense	FBXO34	NM_017943.3,NM_152231.1	98,98	1208,3197,2098	CC,CT,TT		42.1977,45.0295,43.157	benign,benign	533/712,533/712	55818706	5613,7393	2203	4300	6503	SO:0001583	missense	55030	exon2			TTGTACTGCCAGC	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1598T>C	14.37:g.55818706T>C	ENSP00000313159:p.Leu533Pro	Somatic	202	2		WXS	Illumina GAIIx	Phase_I	149	8	NM_017943	0	0	1	1	0	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	857	0.3923992673992674	224	0.45528455284552843	119	0.3287292817679558	191	0.3339160839160839	323	0.4261213720316623	C	0.442	-0.898108	0.02472	0.450295	0.421977	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20069	2.1;2.1	5.49	-1.35	0.09114	.	0.711289	0.12725	N	0.444330	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45512	-0.9256	9	0.42905	T	0.14	-15.7575	11.6878	0.51497	0.0:0.3231:0.0:0.6769	rs3742569;rs17674206;rs52807065;rs61280222;rs3742569	533	Q9NWN3	FBX34_HUMAN	P	533	ENSP00000313159:L533P;ENSP00000394117:L533P	ENSP00000313159:L533P	L	+	2	0	FBXO34	54888459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.774000	0.04684	-0.553000	0.06158	-0.716000	0.03619	CTG	T|0.582;C|0.418		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			C	55818706	T	C	55818706	3	2	24	1	0	0	0	0	1	0	0	0	5766	1580	55	4	1600	4	FBXO34	14	55818706	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	10178897	55818706	51530834	79	4182											
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	96800204	96800204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagctaaccctattttgctaGaattttctataagcatacaa	4	8	1	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr14:96800204G>C	ENST00000359933.4	-	8	1921	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	343					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TATTTTGCTAGAATTTTCTAT	0.333																																					p.S343C		.											.	ATG2B-93	0			c.C1028G						.						102	94	97					14																	96800204		1817	4077	5894	SO:0001583	missense	55102	exon8			TTGCTAGAATTTT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1028C>G	14.37:g.96800204G>C	ENSP00000353010:p.Ser343Cys	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	41	15	NM_018036	0	0	0	0	0	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287679	0.59976	.	.	ENSG00000066739	ENST00000359933	T	0.10860	2.83	5.9	5.9	0.94986	.	0.238344	0.22025	U	0.065669	T	0.09774	0.0240	L	0.27053	0.805	0.30285	N	0.790988	B	0.10296	0.003	B	0.08055	0.003	T	0.03706	-1.1011	10	0.59425	D	0.04	.	13.8831	0.63693	0.078:0.0:0.922:0.0	.	343	Q96BY7	ATG2B_HUMAN	C	343	ENSP00000353010:S343C	ENSP00000353010:S343C	S	-	2	0	ATG2B	95869957	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.560000	0.53763	2.793000	0.96121	0.591000	0.81541	TCT	.		0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		C	96800204	G	C	96800204	3	2	24	1	0	0	0	0	1	0	0	0	1095	942	33	3	5348	3	ATG2B	14	96800204	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	40981498	96800204	10549336	80	4183											
EIF2AK4	440275	bcgsc.ca	37	chr15	40259848	40259848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaaggcaccgtcaagAttacggactatagcatttct	9	9	2	2	rs2291627	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr15:40259848A>C	ENST00000263791.5	+	9	1364	c.1321A>C	c.(1321-1323)Att>Ctt	p.I441L	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.I441L|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.I441L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	441	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> L (in dbSNP:rs2291627). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:17974005}.		cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACCGTCAAGATTACGGACTA	0.468													A|||	1239	0.247404	0.233	0.134	5008	,	,		23651	0.5387		0.0924	False		,,,				2504	0.2065				p.I441L		.											.	EIF2AK4-757	0			c.A1321C						.	A	LEU/ILE	762,3232		68,626,1303	107	105	106		1321	4.5	1	15	dbSNP_100	106	739,7611		33,673,3469	yes	missense	EIF2AK4	NM_001013703.2	5	101,1299,4772	CC,CA,AA		8.8503,19.0786,12.1598	benign	441/1650	40259848	1501,10843	1997	4175	6172	SO:0001583	missense	440275	exon9			GTCAAGATTACGG	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1321A>C	15.37:g.40259848A>C	ENSP00000263791:p.Ile441Leu	Somatic	184	2		WXS	Illumina GAIIx	Phase_I	122	6	NM_001013703	0	0	0	0	0	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	531	0.24313186813186813	115	0.23373983739837398	45	0.12430939226519337	298	0.5209790209790209	73	0.09630606860158311	A	4.744	0.138332	0.09083	0.190786	0.088503	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.68903	-0.36;-0.36	5.58	4.46	0.54185	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.323593	0.34025	N	0.004327	T	0.00012	0.0000	N	0.02225	-0.63	0.35081	P	0.236591	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.002	T	0.43621	-0.9380	9	0.02654	T	1	-16.4002	4.9105	0.13820	0.5452:0.2912:0.1637:0.0	rs2291627;rs52819941;rs61355221;rs2291627	441;441	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	L	441	ENSP00000263791:I441L;ENSP00000372174:I441L	ENSP00000263791:I441L	I	+	1	0	EIF2AK4	38047140	1.000000	0.71417	0.972000	0.41901	0.798000	0.45092	1.331000	0.33793	1.052000	0.40392	0.533000	0.62120	ATT	C|0.219;N|0.000		0.468	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40259848	A	C	40259848	3	2	24	1	0	0	0	0	1	0	0	0	5013	333	12	5	1355	5	EIF2AK4	15	40259848	Missense_Mutation	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10		40259848	62271544	81	4184											
ZNF205	7755	hgsc.bcm.edu;broad.mit.edu	37	chr16	3169885	3169896	+	In_Frame_Del	DEL	CACCCACCAGGG	CACCCACCAGGG	-													acccgccgctcggacttggtCacccaccagggcacccacac							TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	CACCCACCAGGG	CACCCACCAGGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr16:3169885_3169896delCACCCACCAGGG	ENST00000382192.3	+	7	1429_1440	c.1224_1235delCACCCACCAGGG	c.(1222-1236)gtcacccaccagggc>gtc	p.THQG409del	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_In_Frame_Del_p.THQG409del|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	409					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CGGACTTGGTCACCCACCAGGGCACCCACACG	0.67																																					p.408_412del		.											.	ZNF205-90	0			c.1224_1235del						.																																			SO:0001651	inframe_deletion	7755	exon7			CTTGGTCACCCAC	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1224_1235delCACCCACCAGGG	16.37:g.3169885_3169896delCACCCACCAGGG	ENSP00000371627:p.Thr409_Gly412del	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	117	52	NM_003456	0	0	0	0	0	A8MZK0|D3DUB4|Q9BU95	In_Frame_Del	DEL	ENST00000382192.3	37	CCDS10494.2																																																																																			.		0.67	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		-	3169896	CACCCACCAGGG	-	3169885	7	5	24	1	0	1	0	1	0	0	0	0	17812	813	29	0	1246	0	ZNF205	16	3169885	In_Frame_Del	DEL	CACCCACCAGGG	TCGA-OR-A5JX-01A-11D-A29I-10		3169885	87184868	82	4185											
TMC5	79838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	19492710	19492710	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaatcattgggatgcaactGatcacaagtcttggccttca	9	9	4	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr16:19492710G>C	ENST00000396229.2	+	15	3035	c.2286G>C	c.(2284-2286)ctG>ctC	p.L762L	TMC5_ENST00000561503.1_Silent_p.L403L|TMC5_ENST00000381414.4_Silent_p.L762L|TMC5_ENST00000541464.1_Silent_p.L710L|TMC5_ENST00000542583.2_Silent_p.L762L|TMC5_ENST00000219821.5_Silent_p.L516L|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000564959.1_Silent_p.L445L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	762					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATGCAACTGATCACAAGTC	0.423																																					p.L762L		.											.	TMC5-91	0			c.G2286C						.						183	157	166					16																	19492710		2197	4300	6497	SO:0001819	synonymous_variant	79838	exon15			GCAACTGATCACA	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2286G>C	16.37:g.19492710G>C		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	248	50	NM_001105249	0	0	0	0	0	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	CCDS45431.1																																																																																			.		0.423	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		C	19492710	G	C	19492710	2	2	24	1	0	0	0	0	0	0	0	1	16035	1277	45	3		3	TMC5	16	19492710	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	16322825	19492710	70862043	83	4186											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	24	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	38070094	57562804	32791949	84	4187											
CDH5	1003	bcgsc.ca	37	chr16	66432424	66432424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgtgaagttcaaattcatCttgaatactgagaacaactt	6	7	3	3	rs3826229|rs386791725	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr16:66432424C>T	ENST00000341529.3	+	10	1699	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		I -> T (in dbSNP:rs1049970). {ECO:0000269|PubMed:10861224, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7627717}.		adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCAAATTCATCTTGAATACTG	0.473													C|||	2079	0.415136	0.3979	0.4409	5008	,	,		21236	0.5506		0.3678	False		,,,				2504	0.3292				p.I517I		.											.	CDH5-525	0			c.C1551T						.	C		96,4306		24,48,2129	150	127	134		1551	3	0.9	16	dbSNP_107	134	112,8488		25,62,4213	no	coding-synonymous	CDH5	NM_001795.3		49,110,6342	TT,TC,CC		1.3023,2.1808,1.5998		517/785	66432424	208,12794	2201	4300	6501	SO:0001819	synonymous_variant	1003	exon10			ATTCATCTTGAAT	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1551C>T	16.37:g.66432424C>T		Somatic	240	3		WXS	Illumina GAIIx	Phase_I	289	9	NM_001795	0	0	0	0	0	Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	CCDS10804.1																																																																																			A|0.000;C|0.632;G|0.000;T|0.368		0.473	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66432424	C	T	66432424	2	4	24	1	0	0	0	0	0	0	0	1	3120	903	32	3		3	CDH5	16	66432424	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	8869620	66432424	23922329	85	4188											
ALOX15	246	bcgsc.ca	37	chr17	4536241	4536241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctttcacagccacgtcTgtcttatagtggagactcac	8	12	5	1	rs743646	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr17:4536241T>C	ENST00000570836.1	-	12	1551	c.1455A>G	c.(1453-1455)acA>acG	p.T485T	ALOX15_ENST00000574640.1_Silent_p.T446T|ALOX15_ENST00000545513.1_Silent_p.T507T|ALOX15_ENST00000293761.3_Silent_p.T485T			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	485	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)		CAGCCACGTCTGTCTTATAGT	0.592													T|||	232	0.0463259	0.0045	0.0648	5008	,	,		18952	0.001		0.1342	False		,,,				2504	0.046				p.T485T		.											.	ALOX15-229	0			c.A1455G						.	T		89,4317	73.6+/-111.7	1,87,2115	93	85	88		1455	-3.2	0	17	dbSNP_86	88	1057,7543	222.7+/-259.7	66,925,3309	no	coding-synonymous	ALOX15	NM_001140.3		67,1012,5424	CC,CT,TT		12.2907,2.02,8.8113		485/663	4536241	1146,11860	2203	4300	6503	SO:0001819	synonymous_variant	246	exon11			CACGTCTGTCTTA	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.1455A>G	17.37:g.4536241T>C		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	127	6	NM_001140	0	0	0	0	0	A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	CCDS11049.1																																																																																			T|0.920;C|0.080		0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			C	4536241	T	C	4536241	2	2	24	1	0	0	0	0	0	0	0	1	538	1567	55	4		4	ALOX15	17	4536241	Silent	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10		4536241	76658969	86	4189											
KRTAP4-8	728224	ucsc.edu	37	chr17	39254133	39254133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctggacacacagcaGctggggcgacagcaggtggg	17	11	0	0	rs200462175		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr17:39254133G>T	ENST00000333822.4	-	1	260	c.204C>A	c.(202-204)agC>agA	p.S68R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	68	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACACACAGCAGCTGGGGCGAC	0.667																																					p.S68R		.											.	.	0			c.C204A						.						6	9	8					17																	39254133		616	1426	2042	SO:0001583	missense	728224	exon1			ACAGCAGCTGGGG	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.204C>A	17.37:g.39254133G>T	ENSP00000328444:p.Ser68Arg	Somatic	22	1		WXS	Illumina GAIIx	Phase_I	87	16	NM_031960	0	0	0	0	0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368333	0.42003	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01963	4.53	3.73	-3.02	0.05446	.	2.601200	0.02242	U	0.065854	T	0.05135	0.0137	M	0.89658	3.05	0.20307	N	0.999915	B	0.11235	0.004	B	0.10450	0.005	T	0.47774	-0.9091	10	0.46703	T	0.11	.	0.2646	0.00223	0.277:0.1441:0.2848:0.2941	.	68	Q9BYQ9	KRA48_HUMAN	R	68	ENSP00000328444:S68R	ENSP00000414561:S68R	S	-	3	2	KRTAP4-8	36507659	0.949000	0.32298	0.011000	0.14972	0.444000	0.32077	1.355000	0.34068	-0.877000	0.04012	0.449000	0.29647	AGC	.		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		T	39254133	G	T	39254133	3	4	24	1	0	0	0	0	1	0	0	0	8584	962	34	3	357	3	KRTAP4-8	17	39254133	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	34717892	39254133	41941077	87	4190											
ICT1	3396	hgsc.bcm.edu	37	chr17	73008804	73008804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccaccaggtgcctgcGctggggcctgagccgagccg	18	15	0	1	rs3744206	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr17:73008804G>T	ENST00000301585.5	+	1	36	c.23G>T	c.(22-24)cGc>cTc	p.R8L		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	8			R -> P (in dbSNP:rs3744206).		mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGGTGCCTGCGCTGGGGCCTG	0.697											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	118	0.0235623	0.0703	0.0101	5008	,	,		10726	0		0.0179	False		,,,				2504	0				p.R8L		.											.	ICT1-91	0			c.G23T						.	G	LEU/ARG	223,4091		3,217,1937	10	9	9		23	2.2	0.8	17	dbSNP_107	9	274,8156		5,264,3946	no	missense	ICT1	NM_001545.1	102	8,481,5883	TT,TG,GG		3.2503,5.1692,3.8999	benign	8/207	73008804	497,12247	2157	4215	6372	SO:0001583	missense	3396	exon1			GCCTGCGCTGGGG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.23G>T	17.37:g.73008804G>T	ENSP00000301585:p.Arg8Leu	Somatic	1	0	1142	WXS	Illumina GAIIx	Phase_I	19	15	NM_001545	0	0	1	14	13	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090738	0.20471	0.051692	0.032503	ENSG00000167862	ENST00000301585	T	0.25749	1.78	5.58	2.2	0.27929	.	0.565130	0.17342	N	0.177719	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	10	0.44086	T	0.13	-4.1944	7.6743	0.28476	0.0:0.1266:0.4103:0.4631	rs3744206	8	Q14197	ICT1_HUMAN	L	8	ENSP00000301585:R8L	ENSP00000301585:R8L	R	+	2	0	ICT1	70520399	0.005000	0.15991	0.830000	0.32933	0.026000	0.11368	0.131000	0.15870	0.674000	0.31244	0.655000	0.94253	CGC	C|0.010;G|0.987;T|0.003		0.697	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		T	73008804	G	T	73008804	3	4	24	1	0	0	0	0	1	0	0	0	7515	1087	38	2	25	2	ICT1	17	73008804	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	33754671	73008804	8186406	88	4191											
AATK	9625	hgsc.bcm.edu	37	chr17	79096344	79096344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcggtcaccgtcagcacGtcgtcgccgtccgcgtggaa	13	15	3	0	rs374609689		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr17:79096344G>A	ENST00000326724.4	-	11	1416	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	AATK_ENST00000417379.1_Silent_p.D361D|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	464					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGTCAGCACGTCGTCGCCGT	0.726																																					p.D464D		.											.	AATK-933	0			c.C1392T						.	G	,	0,3114		0,0,1557	3	4	3		1392,1083	4.1	1	17		3	13,6709		0,13,3348	no	coding-synonymous,coding-synonymous	AATK	NM_001080395.2,NM_004920.2	,	0,13,4905	AA,AG,GG		0.1934,0.0,0.1322	,	464/1375,361/1272	79096344	13,9823	1557	3361	4918	SO:0001819	synonymous_variant	9625	exon11			CAGCACGTCGTCG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1392C>T	17.37:g.79096344G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589373	0.28357	0.0	0.001934	ENSG00000181409	ENST00000417379	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54576	-0.8273	4	.	.	.	.	7.6056	0.28100	0.1928:0.0:0.8072:0.0	.	.	.	.	M	417	.	.	T	-	2	0	AATK	76710939	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.125000	0.31332	2.111000	0.64477	0.561000	0.74099	ACG	.		0.726	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		A	79096344	G	A	79096344	2	1	24	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79096344	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	6087540	79096344	2098866	89	4192											
TSHZ1	10194	bcgsc.ca	37	chr18	72998268	72998268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatggaggggaaggaggaTgcccagaaggtgctgaagtg	20	4	0	3	rs3744909	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr18:72998268T>C	ENST00000580243.1	+	2	1254	c.906T>C	c.(904-906)gaT>gaC	p.D302D	TSHZ1_ENST00000322038.5_Silent_p.D257D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	302					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGAAGGAGGATGCCCAGAAGG	0.552													C|||	1432	0.285942	0.1778	0.3732	5008	,	,		19407	0.1677		0.4085	False		,,,				2504	0.3661				p.D257D		.											.	TSHZ1-90	0			c.T771C						.	C		911,3495	738.6+/-411.0	95,721,1387	140	113	122		771	-2.9	1	18	dbSNP_107	122	3455,5145	636.2+/-399.1	696,2063,1541	no	coding-synonymous	TSHZ1	NM_005786.4		791,2784,2928	CC,CT,TT		40.1744,20.6764,33.5691		257/1033	72998268	4366,8640	2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			GGAGGATGCCCAG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.906T>C	18.37:g.72998268T>C		Somatic	280	3		WXS	Illumina GAIIx	Phase_I	117	5	NM_005786	0	0	0	0	0	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				T|0.676;C|0.324		0.552	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		C	72998268	T	C	72998268	2	2	24	1	0	0	0	0	0	0	0	1	16671	1461	51	4		4	TSHZ1	18	72998268	Silent	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10		72998268	5078980	90	4193											
MUC16	94025	bcgsc.ca	37	chr19	9003645	9003645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcatactgcaggttaGtgatggtaaaattgagggtg	12	7	1	2	rs11085777	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:9003645G>A	ENST00000397910.4	-	49	40198	c.39995C>T	c.(39994-39996)aCt>aTt	p.T13332I	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13334	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGGTTAGTGATGGTAAA	0.488													g|||	1263	0.252196	0.0787	0.3617	5008	,	,		19044	0.2698		0.4135	False		,,,				2504	0.2249				p.T13332I		.											.	MUC16-566	0			c.C39995T						.	G	ILE/THR	527,3511		33,461,1525	231	189	203		39995	-2.8	0	19	dbSNP_120	203	3305,5071		659,1987,1542	yes	missense	MUC16	NM_024690.2	89	692,2448,3067	AA,AG,GG		39.458,13.051,30.8684	benign	13332/14508	9003645	3832,8582	2019	4188	6207	SO:0001583	missense	94025	exon49			AGGTTAGTGATGG	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.39995C>T	19.37:g.9003645G>A	ENSP00000381008:p.Thr13332Ile	Somatic	284	0		WXS	Illumina GAIIx	Phase_I	341	11	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	673	0.30815018315018317	48	0.0975609756097561	140	0.3867403314917127	179	0.3129370629370629	306	0.40369393139841686	.	11.64	1.697732	0.30142	0.13051	0.39458	ENSG00000181143	ENST00000397910	T	0.51071	0.72	3.07	-2.8	0.05823	SEA (1);	.	.	.	.	T	0.00012	0.0000	L	0.59436	1.845	.	.	.	B;B	0.31485	0.001;0.325	B;B	0.36186	0.003;0.219	T	0.40059	-0.9583	8	0.87932	D	0	-0.4951	3.1321	0.06426	0.2283:0.0:0.4187:0.353	rs11085777	20977;13332	Q8WXI7;B5ME49	MUC16_HUMAN;.	I	13332	ENSP00000381008:T13332I	ENSP00000381008:T13332I	T	-	2	0	MUC16	8864645	0.137000	0.22531	0.017000	0.16124	0.000000	0.00434	-0.040000	0.12104	-0.543000	0.06240	-1.263000	0.01449	ACT	G|0.687;A|0.313		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9003645	G	A	9003645	3	1	24	1	0	0	0	0	1	0	0	0	10011	1029	36	3	3672	3	MUC16	19	9003645	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		9003645	50125338	91	4194											
NDUFB7	4713	bcgsc.ca	37	chr19	14677691	14677691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgggcgcagtagtccCgcagctggagcctcagctgc	17	12	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:14677691C>T	ENST00000215565.2	-	2	228	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	56					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GCAGTAGTCCCGCAGCTGGAG	0.657																																					p.R56Q		.											.	NDUFB7-91	0			c.G167A						.						51	41	45					19																	14677691		2192	4290	6482	SO:0001583	missense	4713	exon2			TAGTCCCGCAGCT		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.167G>A	19.37:g.14677691C>T	ENSP00000215565:p.Arg56Gln	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_004146	0	0	775	775	0	Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	37	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831854	0.71258	.	.	ENSG00000099795	ENST00000215565	T	0.65732	-0.17	4.76	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.81283	0.4790	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.84666	0.0709	10	0.87932	D	0	-15.5377	11.0056	0.47633	0.0:0.9081:0.0:0.0919	.	56	P17568	NDUB7_HUMAN	Q	56	ENSP00000215565:R56Q	ENSP00000215565:R56Q	R	-	2	0	NDUFB7	14538691	1.000000	0.71417	0.865000	0.33974	0.327000	0.28475	6.942000	0.75928	1.234000	0.43709	0.585000	0.79938	CGG	.		0.657	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		T	14677691	C	T	14677691	3	4	24	1	0	0	0	0	1	0	0	0	10325	652	23	1	254	1	NDUFB7	19	14677691	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	5674046	14677691	44451292	92	4195											
OR10H3	26532	bcgsc.ca	37	chr19	15852363	15852363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtttggattgaacGcagactccacacacccatgt	9	13	0	2	rs11670007	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:15852363G>A	ENST00000305892.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	54			R -> H (in dbSNP:rs11670007).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGATTGAACGCAGACTCCAC	0.527													g|||	1308	0.261182	0.4319	0.2752	5008	,	,		23202	0.0119		0.3131	False		,,,				2504	0.2239				p.R54H		.											.	OR10H3-68	0			c.G161A						.	G	HIS/ARG	1796,2610		372,1052,779	413	362	379		161	-4.7	0.2	19	dbSNP_120	379	2472,6128		379,1714,2207	yes	missense	OR10H3	NM_013938.1	29	751,2766,2986	AA,AG,GG		28.7442,40.7626,32.8156	benign	54/317	15852363	4268,8738	2203	4300	6503	SO:0001583	missense	26532	exon1			TTGAACGCAGACT		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.161G>A	19.37:g.15852363G>A	ENSP00000307130:p.Arg54His	Somatic	295	1		WXS	Illumina GAIIx	Phase_I	340	10	NM_013938	0	0	0	0	0	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	CCDS12334.1	563	0.25778388278388276	198	0.4024390243902439	115	0.31767955801104975	11	0.019230769230769232	239	0.3153034300791557	.	0.009	-1.816832	0.00595	0.407626	0.287442	ENSG00000171936	ENST00000305892	T	0.01084	5.36	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	0.910830	0.09011	N	0.861532	T	0.00012	0.0000	N	0.04820	-0.15	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.27468	-1.0073	9	0.10636	T	0.68	.	6.0643	0.19854	0.213:0.265:0.522:0.0	rs11670007;rs52827169;rs61232867;rs11670007	54	O60404	O10H3_HUMAN	H	54	ENSP00000307130:R54H	ENSP00000307130:R54H	R	+	2	0	OR10H3	15713363	0.000000	0.05858	0.225000	0.23894	0.114000	0.19823	-2.725000	0.00808	-0.961000	0.03609	-1.125000	0.01998	CGC	G|0.700;A|0.300		0.527	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			A	15852363	G	A	15852363	3	1	24	1	0	0	0	0	1	0	0	0	10946	1087	38	1	163	1	OR10H3	19	15852363	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	1174672	15852363	43276620	93	4196											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	24	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	17315092	33167455	25961528	94	4197											
ACTN4	81	ucsc.edu;bcgsc.ca	37	chr19	39214253	39214253	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctctgcccggcccgcaGcgagctggattactacgact	11	15	1	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:39214253G>T	ENST00000252699.2	+	13	1518		c.e13-1		ACTN4_ENST00000390009.3_Splice_Site|ACTN4_ENST00000424234.2_Splice_Site	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4						actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGCCCGCAGCGAGCTGGAT	0.602																																					.	Colon(168;199 1940 10254 46213 46384)	.											.	ACTN4-90	0			c.1443-1G>T						.						36	30	32					19																	39214253		2203	4300	6503	SO:0001630	splice_region_variant	81	exon13			CCCGCAGCGAGCT	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1443-1G>T	19.37:g.39214253G>T		Somatic	440	2		WXS	Illumina GAIIx	Phase_I	560	135	NM_004924	0	0	0	15	15	A4K467|D6PXK4|O76048	Splice_Site	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416915	0.62511	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234;ENST00000390009	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1783	0.72934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTN4	43906093	1.000000	0.71417	0.959000	0.39883	0.768000	0.43524	9.585000	0.98223	2.176000	0.68965	0.561000	0.74099	.	.		0.602	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		Intron	T	39214253	G	T	39214253	5	4	24	1	0	0	0	0	0	0	1	0	207	985	34	3	1492	3	ACTN4	19	39214253	Splice_Site	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	6046798	39214253	19914730	95	4198											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	24	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	226665	39440918	19688065	96	4199											
POU2F2	5452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42603760	42603760	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctggaatagatttggtgtCggtagcaggcctggaaagac	15	6	0	2	rs375042716		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:42603760C>T	ENST00000526816.2	-	7	435	c.420G>A	c.(418-420)ccG>ccA	p.P140P	POU2F2_ENST00000533720.1_Silent_p.P140P|POU2F2_ENST00000560558.1_Silent_p.P101P|POU2F2_ENST00000529952.1_Silent_p.P140P|POU2F2_ENST00000342301.4_Silent_p.P140P|POU2F2_ENST00000529067.1_Silent_p.P140P|POU2F2_ENST00000389341.5_Silent_p.P140P|POU2F2_ENST00000560398.1_Silent_p.P162P			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	140					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GATTTGGTGTCGGTAGCAGGC	0.602																																					p.P140P		.											.	POU2F2-227	0			c.G420A						.	C	,,	0,4406		0,0,2203	47	48	47		420,420,420	1.6	1	19		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POU2F2	NM_001207025.1,NM_001207026.1,NM_002698.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	140/480,140/468,140/464	42603760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5452	exon7			TGGTGTCGGTAGC		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.420G>A	19.37:g.42603760C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	166	33	NM_002698	0	0	0	0	0	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	CCDS56095.1																																																																																			.		0.602	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			T	42603760	C	T	42603760	2	4	24	1	0	0	0	0	0	0	0	1	12311	871	31	1		1	POU2F2	19	42603760	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	3162842	42603760	16525223	97	4200											
IRGQ	126298	hgsc.bcm.edu	37	chr19	44098975	44098975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcacctccgcagcgcttcTgcctggctctgcagcgccgc	10	19	3	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:44098975T>C	ENST00000602269.1	-	1	701	c.516A>G	c.(514-516)gcA>gcG	p.A172A	ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000422989.1_Silent_p.A172A|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	172										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGCGCTTCTGCCTGGCTCT	0.662																																					p.A172A		.											.	IRGQ-92	0			c.A516G						.						20	22	22					19																	44098975		2201	4297	6498	SO:0001819	synonymous_variant	126298	exon2			CGCTTCTGCCTGG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.516A>G	19.37:g.44098975T>C		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	59	8	NM_001007561	0	0	0	0	0	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																			.		0.662	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		C	44098975	T	C	44098975	2	2	24	1	0	0	0	0	0	0	0	1	7866	1567	55	4		4	IRGQ	19	44098975	Silent	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	1495215	44098975	15030008	98	4201											
ZNF226	7769	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	44680489	44680489	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcattgcaaggtccacacGgcagagaaaccttataattg	9	9	1	1	rs2178342	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:44680489G>C	ENST00000590089.1	+	7	1441	c.1074G>C	c.(1072-1074)acG>acC	p.T358T	ZNF226_ENST00000337433.5_Silent_p.T358T|ZNF226_ENST00000454662.2_Silent_p.T358T|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				AGGTCCACACGGCAGAGAAAC	0.468																																					p.T358T	Pancreas(115;581 1665 13228 19278 50070)	.											.	.	0			c.G1074C						.						89	96	94					19																	44680489		2198	4298	6496	SO:0001819	synonymous_variant	7769	exon6			CCACACGGCAGAG	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1074G>C	19.37:g.44680489G>C		Somatic	180	1		WXS	Illumina GAIIx	Phase_I	219	54	NM_001032372	0	0	6	9	3	Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	CCDS46102.1																																																																																			G|0.865;A|0.135		0.468	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			C	44680489	G	C	44680489	2	2	24	1	0	0	0	0	0	0	0	1	17828	1103	39	2		2	ZNF226	19	44680489	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	581514	44680489	14448494	99	4202											
ZNF814	730051	ucsc.edu	37	chr19	58384418	58384418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactggagctttcagcgaaAgattttccacattcactgca	7	10	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:58384418A>G	ENST00000435989.2	-	3	2574	c.2340T>C	c.(2338-2340)tcT>tcC	p.S780S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	780					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCAGCGAAAGATTTTCCAC	0.398																																					p.S780S		.											.	.	0			c.T2340C						.						73	61	65					19																	58384418		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			AGCGAAAGATTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2340T>C	19.37:g.58384418A>G		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	77	1	NM_001144989	0	0	21	26	5	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.398	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384418	A	G	58384418	2	3	24	1	0	0	0	0	0	0	0	1	18224	59	3	4		4	ZNF814	19	58384418	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	13703929	58384418	744565	100	4203											
ZNF814	730051	ucsc.edu	37	chr19	58384712	58384712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataaggtctttctccagtAtggccatgctggtgtagaat	10	8	2	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr19:58384712A>G	ENST00000435989.2	-	3	2280	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	682					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCTCCAGTATGGCCATGCT	0.408																																					p.H682H		.											.	.	0			c.T2046C						.						68	57	60					19																	58384712		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TCCAGTATGGCCA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2046T>C	19.37:g.58384712A>G		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	223	1	NM_001144989	0	0	10	12	2	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384712	A	G	58384712	2	3	24	1	0	0	0	0	0	0	0	1	18224	446	16	4		4	ZNF814	19	58384712	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	294	58384712	744271	101	4204											
KCNS1	3787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	43727858	43727858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctcatagtgtgttcccCggaccagcagcatcagcatc	10	13	2	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr20:43727858C>T	ENST00000306117.1	-	3	416	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	KCNS1_ENST00000537075.1_Missense_Mutation_p.R7Q	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	7					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				gtgtgttccccggaccagcag	0.493																																					p.R7Q		.											.	KCNS1-90	0			c.G20A						.						91	77	82					20																	43727858		1327	2309	3636	SO:0001583	missense	3787	exon3			GTTCCCCGGACCA	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.20G>A	20.37:g.43727858C>T	ENSP00000307694:p.Arg7Gln	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	110	19	NM_002251	0	0	0	0	0	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102714	0.56183	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96522	-4.04;-4.04	4.47	0.257	0.15574	.	5.843670	0.00166	N	0.000006	D	0.89639	0.6773	N	0.08118	0	0.21147	N	0.999777	B	0.02656	0.0	B	0.01281	0.0	T	0.81731	-0.0799	10	0.36615	T	0.2	.	2.8714	0.05618	0.1879:0.2842:0.0:0.528	.	7	Q96KK3	KCNS1_HUMAN	Q	7	ENSP00000307694:R7Q;ENSP00000445595:R7Q	ENSP00000307694:R7Q	R	-	2	0	KCNS1	43161272	0.009000	0.17119	0.834000	0.33040	0.662000	0.39071	0.055000	0.14229	-0.065000	0.13021	0.655000	0.94253	CGG	.		0.493	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43727858	C	T	43727858	3	4	24	1	0	0	0	0	1	0	0	0	8115	652	23	1	1572	1	KCNS1	20	43727858	Missense_Mutation	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10		43727858	19297662	102	4205											
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	58441568	58441568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctagagtcctgactttgaTgattcattgttctcagatgt	8	8	2	5			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr20:58441568T>G	ENST00000357552.3	-	40	4427	c.4202A>C	c.(4201-4203)cAt>cCt	p.H1401P	SYCP2_ENST00000371001.2_Missense_Mutation_p.H1401P			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1401					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)			CTGACTTTGATGATTCATTGT	0.308																																					p.H1401P		.											.	SYCP2-525	0			c.A4202C						.						86	89	88					20																	58441568		2203	4297	6500	SO:0001583	missense	10388	exon39			CTTTGATGATTCA	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.4202A>C	20.37:g.58441568T>G	ENSP00000350162:p.His1401Pro	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	42	9	NM_014258	0	0	1	1	0	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	3.901	-0.021981	0.07634	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14144	2.53;2.53	5.3	0.456	0.16655	.	1.217600	0.05561	N	0.569286	T	0.11281	0.0275	L	0.29908	0.895	0.09310	N	1	P	0.43094	0.799	B	0.41764	0.366	T	0.28618	-1.0038	10	0.36615	T	0.2	-0.0944	5.2926	0.15735	0.0:0.288:0.2656:0.4463	.	1401	Q9BX26	SYCP2_HUMAN	P	1401;1401;87	ENSP00000360040:H1401P;ENSP00000350162:H1401P	ENSP00000350162:H1401P	H	-	2	0	SYCP2	57874963	0.000000	0.05858	0.001000	0.08648	0.374000	0.29953	-0.171000	0.09883	0.084000	0.17077	-0.385000	0.06624	CAT	.		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		G	58441568	T	G	58441568	3	3	24	1	0	0	0	0	1	0	0	0	15479	1464	51	5	414	5	SYCP2	20	58441568	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	14713710	58441568	4583952	103	4206											
BAGE2	85319	bcgsc.ca	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							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)		AAATGCACATCGCTGAAAGGG	0.383																																					p.D40N		.											.	.	0			c.G118A						.						92	70	77					21																	11058322		692	1591	2283			85319	exon3			GCACATCGCTGAA	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.11058322C>T		Somatic	331	5		WXS	Illumina GAIIx	Phase_I	331	11	NM_182482	0	0	0	0	0	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																				C|0.750;T|0.250		0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		T	11058322	C	T	11058322	1	4	24	0	1	0	0	0	0	0	0	0	1293	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10		11058322	37071573	104	4207											
COL6A1	1291	broad.mit.edu	37	chr21	47401845	47401850	+	In_Frame_Del	DEL	GGCCGT	GGCCGT	-													gatgagccggagaccccgagGgccgtggccttccagggtga					rs373932797		TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr21:47401845_47401850delGGCCGT	ENST00000361866.3	+	1	195_200	c.81_86delGGCCGT	c.(79-87)agggccgtg>agg	p.AV28del		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	28	N-terminal globular domain.				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)		AGACCCCGAGGGCCGTGGCCTTCCAG	0.733																																					p.27_29del		.											.	COL6A1-91	0			c.81_86del						.																																			SO:0001651	inframe_deletion	1291	exon1			CCCGAGGGCCGTG	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.81_86delGGCCGT	21.37:g.47401845_47401850delGGCCGT	ENSP00000355180:p.Ala28_Val29del	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	120	8	NM_001848	0	0	0	0	0	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	In_Frame_Del	DEL	ENST00000361866.3	37	CCDS13727.1																																																																																			.		0.733	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		-	47401850	GGCCGT	-	47401845	7	5	24	1	0	1	0	1	0	0	0	0	3706	1223	43	0	83	0	COL6A1	21	47401845	In_Frame_Del	DEL	GGCCGT	TCGA-OR-A5JX-01A-11D-A29I-10	36343523	47401845	728050	105	4208											
TFIP11	24144	bcgsc.ca	37	chr22	26888060	26888060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagaccactccccggtcGatgtagatcacaatgcggcc	9	14	1	2	rs17850763	byFrequency	TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chr22:26888060G>A	ENST00000407690.1	-	15	2716	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	TFIP11_ENST00000405938.1_Silent_p.I811I|TFIP11_ENST00000407431.1_Silent_p.I811I|TFIP11_ENST00000407148.1_Silent_p.I811I|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	811					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCCGGTCGATGTAGATCA	0.567													G|||	90	0.0179712	0.0182	0.0259	5008	,	,		21368	0.002		0.0278	False		,,,				2504	0.0184				p.I811I		.											.	TFIP11-90	0			c.C2433T						.	G	,	80,4326	69.8+/-107.6	0,80,2123	115	75	89		2433,2433	-3.2	1	22	dbSNP_123	89	336,8264	115.5+/-175.4	7,322,3971	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	7,402,6094	AA,AG,GG		3.907,1.8157,3.1985	,	811/838,811/838	26888060	416,12590	2203	4300	6503	SO:0001819	synonymous_variant	24144	exon16			CCGGTCGATGTAG	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2433C>T	22.37:g.26888060G>A		Somatic	388	5		WXS	Illumina GAIIx	Phase_I	158	9	NM_001008697	0	0	18	18	0	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	CCDS13838.1																																																																																			G|0.972;A|0.028		0.567	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		A	26888060	G	A	26888060	2	1	24	1	0	0	0	0	0	0	0	1	15854	1048	37	1		1	TFIP11	22	26888060	Silent	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10		26888060	24416506	106	4209											
TAB3	257397	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30873289	30873289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagacggattcattcctgTttgcatggaagatggctgtt	12	7	1	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chrX:30873289T>C	ENST00000378933.1	-	3	670	c.493A>G	c.(493-495)Aca>Gca	p.T165A	TAB3_ENST00000288422.2_Missense_Mutation_p.T165A|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.T165A|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.T165A	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	165	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTCATTCCTGTTTGCATGGAA	0.463																																					p.T165A	Pancreas(164;1598 1985 29022 43301 49529)	.											.	TAB3-131	0			c.A493G						.						221	160	180					X																	30873289		2202	4300	6502	SO:0001583	missense	257397	exon6			TTCCTGTTTGCAT	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.493A>G	X.37:g.30873289T>C	ENSP00000368215:p.Thr165Ala	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	226	101	NM_152787	0	0	0	0	0	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	5.207	0.223697	0.09863	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.01	5.01	0.66863	.	0.102941	0.43416	D	0.000578	T	0.44477	0.1295	N	0.08118	0	0.29960	N	0.819511	B;B	0.28971	0.229;0.147	B;B	0.27608	0.081;0.037	T	0.41875	-0.9484	10	0.07482	T	0.82	-4.426	9.2515	0.37557	0.0:0.0:0.2563:0.7437	.	165;165	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	A	165	ENSP00000368215:T165A;ENSP00000368212:T165A;ENSP00000288422:T165A;ENSP00000368214:T165A	ENSP00000288422:T165A	T	-	1	0	TAB3	30783210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.224000	0.42945	1.777000	0.52277	0.486000	0.48141	ACA	.		0.463	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		C	30873289	T	C	30873289	3	2	24	1	0	0	0	0	1	0	0	0	15544	1725	60	4	1669	4	TAB3	23	30873289	Missense_Mutation	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10		30873289	124397271	107	4210											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	31792220	31792220	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagagcaggtacctccaAcatcaaggaagatggcattt	10	10	1	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chrX:31792220A>G	ENST00000357033.4	-	51	7605	c.7399T>C	c.(7399-7401)Ttg>Ctg	p.L2467L	DMD_ENST00000378677.2_Silent_p.L2463L|DMD_ENST00000343523.2_Silent_p.L7L|DMD_ENST00000541735.1_Silent_p.L7L|DMD_ENST00000378707.3_Silent_p.L7L|DMD_ENST00000359836.1_Silent_p.L7L|DMD_ENST00000474231.1_Silent_p.L7L	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	2467					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)				GGTACCTCCAACATCAAGGAA	0.443																																					p.L2467L		.											.	DMD-265	0			c.T7399C						.						97	81	86					X																	31792220		2202	4300	6502	SO:0001819	synonymous_variant	1756	exon51			CCTCCAACATCAA	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.7399T>C	X.37:g.31792220A>G		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	135	13	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	9.470	1.095353	0.20471	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.08	2.66	0.31614	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	.	6.7503	0.23483	0.7674:0.1517:0.081:0.0	.	.	.	.	A	195	.	.	V	-	2	0	DMD	31702141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	0.581000	0.29539	0.481000	0.45027	GTT	.		0.443	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31792220	A	G	31792220	2	3	24	1	0	0	0	0	0	0	0	1	4594	40	2	4		4	DMD	23	31792220	Silent	SNP	A	TCGA-OR-A5JX-01A-11D-A29I-10	918931	31792220	123478340	108	4211											
CCDC22	28952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49099775	49099775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagttccaggcgagtccCctgctgcttccagtccctac	11	16	0	0			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chrX:49099775C>T	ENST00000376227.3	+	6	731	c.561C>T	c.(559-561)ccC>ccT	p.P187P	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	187										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGGCGAGTCCCCTGCTGCTTC	0.662																																					p.P187P		.											.	CCDC22-130	0			c.C561T						.						33	24	27					X																	49099775		2201	4299	6500	SO:0001819	synonymous_variant	28952	exon6			GAGTCCCCTGCTG	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.561C>T	X.37:g.49099775C>T		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	157	75	NM_014008	0	0	12	20	8	A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																			.		0.662	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		T	49099775	C	T	49099775	2	4	24	1	0	0	0	0	0	0	0	1	2804	610	22	3		3	CCDC22	23	49099775	Silent	SNP	C	TCGA-OR-A5JX-01A-11D-A29I-10	17307555	49099775	106170785	109	4212											
MTMR8	55613	bcgsc.ca	37	chrX	63488902	63488902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacagatctcttctggtgGctcatcacggacttttagtt	10	9	4	1			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chrX:63488902G>T	ENST00000374852.3	-	14	1697	c.1630C>A	c.(1630-1632)Cca>Aca	p.P544T	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	544						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCTTCTGGTGGCTCATCACGG	0.433																																					p.P544T		.											.	MTMR8-195	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.C1630A						.						51	48	49					X																	63488902		2203	4296	6499	SO:0001583	missense	55613	exon14			CTGGTGGCTCATC	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1630C>A	X.37:g.63488902G>T	ENSP00000363985:p.Pro544Thr	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	116	5	NM_017677	0	0	0	0	0	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.418|8.418	0.845687|0.845687	0.16963|0.16963	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000374852;ENST00000247400	.|D	.|0.94046	.|-3.34	2.48|2.48	-1.83|-1.83	0.07833|0.07833	.|.	.|0.000000	.|0.42294	.|U	.|0.000732	T|T	0.78836|0.78836	0.4346|0.4346	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999965|0.999965	.|B	.|0.13145	.|0.007	.|B	.|0.08055	.|0.003	T|T	0.66248|0.66248	-0.5971|-0.5971	5|10	.|0.30854	.|T	.|0.27	.|.	1.6439|1.6439	0.02758|0.02758	0.1408:0.3821:0.2818:0.1953|0.1408:0.3821:0.2818:0.1953	.|.	.|544	.|Q96EF0	.|MTMR8_HUMAN	D|T	347|544;430	.|ENSP00000363985:P544T	.|ENSP00000247400:P430T	A|P	-|-	2|1	0|0	MTMR8|MTMR8	63405627|63405627	0.049000|0.049000	0.20398|0.20398	0.279000|0.279000	0.24732|0.24732	0.967000|0.967000	0.64934|0.64934	-0.599000|-0.599000	0.05700|0.05700	-0.665000|-0.665000	0.05317|0.05317	0.529000|0.529000	0.55759|0.55759	GCC|CCA	.		0.433	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		T	63488902	G	T	63488902	3	4	24	1	0	0	0	0	1	0	0	0	9987	1203	42	3	488	3	MTMR8	23	63488902	Missense_Mutation	SNP	G	TCGA-OR-A5JX-01A-11D-A29I-10	14389127	63488902	91781658	110	4213											
TRMT2B	79979	broad.mit.edu	37	chrX	100297093	100297093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgacttttttgtccTttctgacatttcgtggctat	6	9	3	2			TCGA-OR-A5JX-01A-11D-A29I-10	TCGA-OR-A5JX-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e1df717d-71b3-48cf-bb10-d94f741cb2a1	6821dc2c-2d56-428f-9be5-397a135f4404	g.chrX:100297093T>C	ENST00000372936.3	-	3	958	c.186A>G	c.(184-186)aaA>aaG	p.K62K	TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000338687.7_Silent_p.K62K|TRMT2B_ENST00000545398.1_Silent_p.K62K|TRMT2B_ENST00000372939.1_Silent_p.K62K|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Silent_p.K62K|TRMT2B_ENST00000372931.5_Silent_p.K62K	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	62						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTTTTGTCCTTTCTGACATT	0.493																																					p.K62K		.											.	TRMT2B-131	0			c.A186G						.						164	133	144					X																	100297093		2203	4300	6503	SO:0001819	synonymous_variant	79979	exon2			TTGTCCTTTCTGA	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.186A>G	X.37:g.100297093T>C		Somatic	80	1		WXS	Illumina GAIIx	Phase_I	106	6	NM_001167972	0	0	0	0	0	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	CCDS14477.1																																																																																			.		0.493	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		C	100297093	T	C	100297093	2	2	24	1	0	0	0	0	0	0	0	1	16614	1606	56	4		4	TRMT2B	23	100297093	Silent	SNP	T	TCGA-OR-A5JX-01A-11D-A29I-10	36808191	100297093	54973467	111	4214											
PRDM16	63976	hgsc.bcm.edu	37	chr1	3329263	3329263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggggaacgcaagctgggCgccggcgaggggctgcccca	18	12	0	0	rs115226069	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:3329263C>T	ENST00000270722.5	+	9	2551	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PRDM16_ENST00000442529.2_Silent_p.G834G|PRDM16_ENST00000511072.1_Silent_p.G835G|PRDM16_ENST00000441472.2_Silent_p.G834G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.G835G|PRDM16_ENST00000378391.2_Silent_p.G834G|PRDM16_ENST00000514189.1_Silent_p.G835G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	834	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCAAGCTGGGCGCCGGCGAGG	0.716			T	EVI1	"MDS, AML"								C|||	269	0.0537141	0.1271	0.013	5008	,	,		11401	0.0089		0.0119	False		,,,				2504	0.0726				p.G834G		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16-660	0			c.C2502T						.	C	,	303,3017		7,289,1364	5	8	7		2502,2502	-5.2	0	1	dbSNP_132	7	113,7173		0,113,3530	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	7,402,4894	TT,TC,CC		1.5509,9.1265,3.9223	,	834/1277,834/1258	3329263	416,10190	1660	3643	5303	SO:0001819	synonymous_variant	63976	exon9			GCTGGGCGCCGGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2502C>T	1.37:g.3329263C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_022114	0	0	0	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			C|0.969;T|0.031		0.716	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3329263	C	T	3329263	2	4	25	1	0	0	0	0	0	0	0	1	12499	755	27	1		1	PRDM16	1	3329263	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		3329263	245921358	1	4215											
MAD2L2	10459	hgsc.bcm.edu;bcgsc.ca	37	chr1	11737631	11737631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcttgacgcagtgcagcGtgtcctggatatactgattc	13	9	0	2	rs377687352		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:11737631G>T	ENST00000235310.3	-	6	1128	c.200C>A	c.(199-201)aCg>aAg	p.T67K	MAD2L2_ENST00000376669.5_Missense_Mutation_p.T67K|MAD2L2_ENST00000376672.1_Missense_Mutation_p.T67K|MAD2L2_ENST00000376667.3_Missense_Mutation_p.T67K|MAD2L2_ENST00000376692.4_Missense_Mutation_p.T67K			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	67	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTGCAGCGTGTCCTGGAT	0.602								DNA polymerases (catalytic subunits)																													p.T67K		.											.	MAD2L2-659	0			c.C200A						.						165	156	159					1																	11737631		2203	4300	6503	SO:0001583	missense	10459	exon4			TGCAGCGTGTCCT	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.200C>A	1.37:g.11737631G>T	ENSP00000235310:p.Thr67Lys	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_006341	0	0	78	78	0	B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	CCDS134.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353036	0.95830	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667;ENST00000445656;ENST00000456915;ENST00000376655	.	.	.	5.71	5.71	0.89125	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79022	-0.1973	9	0.72032	D	0.01	-22.5947	18.4056	0.90535	0.0:0.0:1.0:0.0	.	67	Q9UI95	MD2L2_HUMAN	K	67;67;67;67;67;97;67;67	.	ENSP00000235310:T67K	T	-	2	0	MAD2L2	11660218	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	9.096000	0.94182	2.699000	0.92147	0.555000	0.69702	ACG	.		0.602	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		T	11737631	G	T	11737631	3	4	25	1	0	0	0	0	1	0	0	0	9186	1145	40	2	459	2	MAD2L2	1	11737631	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	8408368	11737631	237512990	2	4216											
EPB41	2035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29424397	29424397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatcccaaccaaagacGtccctattgtccacactgag	7	13	0	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:29424397G>A	ENST00000343067.4	+	17	2390	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	EPB41_ENST00000373800.3_Missense_Mutation_p.V513I|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000349460.4_Missense_Mutation_p.V532I|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000347529.3_Missense_Mutation_p.V666I|EPB41_ENST00000356093.2_Missense_Mutation_p.V722I|EPB41_ENST00000373798.1_Missense_Mutation_p.V755I	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	755	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AACCAAAGACGTCCCTATTGT	0.453																																					p.V755I		.											.	EPB41-91	0			c.G2263A						.						136	111	120					1																	29424397		2203	4300	6503	SO:0001583	missense	2035	exon17			AAAGACGTCCCTA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2263G>A	1.37:g.29424397G>A	ENSP00000345259:p.Val755Ile	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	126	67	NM_001166005	0	0	5	16	11	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274342	0.59649	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	T;T;T;D;T;T	0.85411	-1.13;-1.13;-1.13;-1.98;-1.13;-1.13	5.85	5.85	0.93711	Band 4.1, C-terminal (1);	0.216147	0.38058	N	0.001825	D	0.90992	0.7167	L	0.59967	1.855	0.80722	D	1	B;P;P;P;P;D;P	0.63046	0.344;0.555;0.546;0.6;0.546;0.992;0.653	B;B;B;B;B;D;B	0.67548	0.183;0.183;0.163;0.252;0.163;0.952;0.147	D	0.90867	0.4743	10	0.62326	D	0.03	.	19.1531	0.93496	0.0:0.0:1.0:0.0	.	595;755;722;718;666;513;532	E9PEX0;P11171;P11171-2;Q59F12;P11171-5;P11171-4;P11171-3	.;41_HUMAN;.;.;.;.;.	I	718;755;722;595;532;513;666;755	ENSP00000345259:V755I;ENSP00000348397:V722I;ENSP00000317597:V532I;ENSP00000362906:V513I;ENSP00000290100:V666I;ENSP00000362904:V755I	ENSP00000345259:V755I	V	+	1	0	EPB41	29296984	1.000000	0.71417	0.981000	0.43875	0.961000	0.63080	4.321000	0.59209	2.753000	0.94483	0.655000	0.94253	GTC	.		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		A	29424397	G	A	29424397	3	1	25	1	0	0	0	0	1	0	0	0	5167	1145	40	1	2346	1	EPB41	1	29424397	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	17686766	29424397	219826224	3	4217											
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	60299091	60299091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgtagtttttggggcagcaGatttcagaagcacttatccc	10	8	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:60299091G>C	ENST00000371208.3	+	5	545	c.288G>C	c.(286-288)caG>caC	p.Q96H	HOOK1_ENST00000395561.2_Missense_Mutation_p.Q54H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	96	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGGGGCAGCAGATTTCAGAAG	0.343																																					p.Q96H		.											.	HOOK1-154	0			c.G288C						.						56	59	58					1																	60299091		2203	4300	6503	SO:0001583	missense	51361	exon5			GCAGCAGATTTCA	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.288G>C	1.37:g.60299091G>C	ENSP00000360252:p.Gln96His	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	81	6	NM_015888	0	0	3	3	0	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971281	0.34754	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.19250	2.16;2.16;2.16	5.48	3.6	0.41247	.	0.326830	0.37530	N	0.002059	T	0.16685	0.0401	L	0.37697	1.125	0.40804	D	0.983367	B	0.15141	0.012	B	0.22152	0.038	T	0.04976	-1.0914	10	0.45353	T	0.12	.	8.6216	0.33864	0.0694:0.0:0.6595:0.2711	.	96	Q9UJC3	HOOK1_HUMAN	H	96;96;54	ENSP00000398860:Q96H;ENSP00000360252:Q96H;ENSP00000378928:Q54H	ENSP00000360252:Q96H	Q	+	3	2	HOOK1	60071679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.525000	0.35953	0.790000	0.33803	0.585000	0.79938	CAG	.		0.343	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		C	60299091	G	C	60299091	3	2	25	1	0	0	0	0	1	0	0	0	7309	933	33	3	306	3	HOOK1	1	60299091	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	30874694	60299091	188951530	4	4218											
WLS	79971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	68624824	68624824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgggagatgtgaaggtGcatttgagtttccgtggtac	14	6	0	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:68624824G>A	ENST00000262348.4	-	3	739	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WLS_ENST00000370976.3_Silent_p.C71C|WLS_ENST00000354777.2_Silent_p.C160C|WLS_ENST00000540432.1_Silent_p.C162C|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	162	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ATGTGAAGGTGCATTTGAGTT	0.458																																					p.C162C		.											.	WLS-90	0			c.C486T						.						184	147	160					1																	68624824		2203	4300	6503	SO:0001819	synonymous_variant	79971	exon3			GAAGGTGCATTTG	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.486C>T	1.37:g.68624824G>A		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	124	58	NM_024911	0	0	56	145	89	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	4.004	-0.001988	0.07819	.	.	ENSG00000116729	ENST00000534713	.	.	.	5.94	-2.37	0.06643	.	.	.	.	.	T	0.49423	0.1556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55995	-0.8052	4	.	.	.	-22.0275	12.7487	0.57296	0.4851:0.0:0.5149:0.0	.	.	.	.	V	65	.	.	A	-	2	0	WLS	68397412	1.000000	0.71417	0.962000	0.40283	0.399000	0.30720	0.629000	0.24538	-0.434000	0.07275	-0.145000	0.13849	GCA	.		0.458	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		A	68624824	G	A	68624824	2	1	25	1	0	0	0	0	0	0	0	1	17425	1311	46	3		3	WLS	1	68624824	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	8325733	68624824	180625797	5	4219											
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152323852	152323852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtctcccgtgaatggcagatCctgactctccatgttgagat	10	11	2	4			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:152323852C>G	ENST00000388718.5	-	3	6482	c.6410G>C	c.(6409-6411)gGa>gCa	p.G2137A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2137					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)			AATGGCAGATCCTGACTCTCC	0.527																																					p.G2137A		.											.	FLG2-151	0			c.G6410C						.						431	401	411					1																	152323852		2203	4300	6503	SO:0001583	missense	388698	exon3			GCAGATCCTGACT	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.6410G>C	1.37:g.152323852C>G	ENSP00000373370:p.Gly2137Ala	Somatic	478	0		WXS	Illumina GAIIx	Phase_I	405	101	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752641	0.15778	.	.	ENSG00000143520	ENST00000388718	T	0.12984	2.63	4.44	-8.88	0.00789	.	.	.	.	.	T	0.09158	0.0226	M	0.78456	2.415	0.09310	N	1	P	0.52061	0.95	P	0.58013	0.831	T	0.01930	-1.1245	9	0.32370	T	0.25	-0.0016	2.8301	0.05497	0.3004:0.1626:0.3954:0.1417	.	2137	Q5D862	FILA2_HUMAN	A	2137	ENSP00000373370:G2137A	ENSP00000373370:G2137A	G	-	2	0	FLG2	150590476	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.407000	0.02488	-2.088000	0.00861	-0.272000	0.10252	GGA	.		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152323852	C	G	152323852	3	3	25	1	0	0	0	0	1	0	0	0	5945	855	30	3	769	3	FLG2	1	152323852	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	83699028	152323852	96926769	6	4220											
IER5	51278	hgsc.bcm.edu	37	chr1	181058313	181058313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgcccgccgctcGtgcctcttggccggagaccg	13	21	1	1	rs3747955	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:181058313G>A	ENST00000367577.4	+	1	676	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	92			R -> H (in dbSNP:rs3747955). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						cccgccgcTCGTGCCTCTTGG	0.801													G|||	2220	0.443291	0.2489	0.4452	5008	,	,		6443	0.6002		0.3777	False		,,,				2504	0.6104				p.R92H		.											.	IER5-227	0			c.G275A						.	G	HIS/ARG	975,3037		142,691,1173	5	6	6		275	-1.2	0	1	dbSNP_107	6	2425,5403		398,1629,1887	no	missense	IER5	NM_016545.4	29	540,2320,3060	AA,AG,GG		30.9785,24.3021,28.7162	benign	92/328	181058313	3400,8440	2006	3914	5920	SO:0001583	missense	51278	exon1			CCGCTCGTGCCTC	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.275G>A	1.37:g.181058313G>A	ENSP00000356549:p.Arg92His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_016545	0	0	3	8	5	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	943	0.4317765567765568	134	0.27235772357723576	158	0.43646408839779005	358	0.6258741258741258	293	0.3865435356200528	G	2.870	-0.234111	0.05983	0.243021	0.309785	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.10668	2.85	3.62	-1.18	0.09617	.	0.978663	0.08289	U	0.968738	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.15719	0.014	B	0.14578	0.011	T	0.36407	-0.9749	9	0.15066	T	0.55	.	7.4605	0.27291	0.1106:0.5642:0.3252:0.0	rs3747955	92	Q5VY09	IER5_HUMAN	H	92	ENSP00000356549:R92H	ENSP00000356549:R92H	R	+	2	0	IER5	179324936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.173000	0.16724	-0.337000	0.08426	0.297000	0.19635	CGT	G|0.568;A|0.432		0.801	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		A	181058313	G	A	181058313	3	1	25	1	0	0	0	0	1	0	0	0	7535	1145	40	1	277	1	IER5	1	181058313	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	28734461	181058313	68192308	7	4221											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186147583	186147583	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtgcctaaaccttgtGcacatcagtgctccaacacc	6	14	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:186147583G>C	ENST00000271588.4	+	104	16208	c.15979G>C	c.(15979-15981)Gca>Cca	p.A5327P	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5327	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						TAAACCTTGTGCACATCAGTG	0.438																																					p.A5327P		.											.	HMCN1-113	0			c.G15979C						.						85	87	86					1																	186147583		2203	4300	6503	SO:0001583	missense	83872	exon104			CCTTGTGCACATC	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.15979G>C	1.37:g.186147583G>C	ENSP00000271588:p.Ala5327Pro	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	190	95	NM_031935	0	0	1	1	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288108	0.80803	.	.	ENSG00000143341	ENST00000271588	D	0.91792	-2.91	6.07	6.07	0.98685	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.098051	0.64402	D	0.000001	D	0.93419	0.7901	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92515	0.6020	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	5327	Q96RW7	HMCN1_HUMAN	P	5327	ENSP00000271588:A5327P	ENSP00000271588:A5327P	A	+	1	0	HMCN1	184414206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.885000	0.99019	0.655000	0.94253	GCA	.		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186147583	G	C	186147583	3	2	25	1	0	0	0	0	1	0	0	0	7247	1319	46	3	16393	3	HMCN1	1	186147583	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	5089270	186147583	63103038	8	4222											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	23	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	25	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	14733395	200880978	48369643	9	4223											
PRELP	5549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203452909	203452909	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctggagaacctgctgctCctggatctccagcacaacag	10	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:203452909C>T	ENST00000343110.2	+	2	724	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	199	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCTGCTCCTGGATCTCC	0.612																																					p.L199L		.											.	PRELP-516	0			c.C597T						.						88	93	91					1																	203452909		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			GCTGCTCCTGGAT	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.597C>T	1.37:g.203452909C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	89	41	NM_201348	0	0	2	2	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			.		0.612	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		T	203452909	C	T	203452909	2	4	25	1	0	0	0	0	0	0	0	1	12515	842	30	3		3	PRELP	1	203452909	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	2571931	203452909	45797712	10	4224											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	9	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	25	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	25051761	228504670	20745951	11	4225											
TTC15	51112	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	3392328	3392328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggaacgacgcctggcttCccggcgaggctacgcgtgga	17	12	0	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:3392328C>T	ENST00000324266.5	+	2	1129	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.P312S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	312					vesicle-mediated transport (GO:0016192)												CGCCTGGCTTCCCGGCGAGGC	0.672																																					p.P312S		.											.	.	0			c.C934T						.						34	30	31					2																	3392328		2203	4300	6503	SO:0001583	missense	51112	exon2			TGGCTTCCCGGCG	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.934C>T	2.37:g.3392328C>T	ENSP00000324318:p.Pro312Ser	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	357	122	NM_016030	0	0	18	33	15	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967988	0.74131	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.61158	0.13;0.13	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	0.968;0.985;1.0	P;P;D	0.91635	0.795;0.845;0.999	T	0.68812	-0.5310	10	0.37606	T	0.19	.	17.9762	0.89128	0.0:1.0:0.0:0.0	.	295;312;312	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	S	312;295;312	ENSP00000371544:P312S;ENSP00000324318:P312S	ENSP00000303612:P295S	P	+	1	0	TTC15	3371335	1.000000	0.71417	0.665000	0.29768	0.356000	0.29392	7.164000	0.77533	2.786000	0.95864	0.561000	0.74099	CCC	.		0.672	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3392328	C	T	3392328	3	4	25	1	0	0	0	0	1	0	0	0	16731	855	30	3	936	3	TTC15	2	3392328	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		3392328	239807045	12	4226											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	21226106	21226106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaggttagcaagccagaaGctgcctcttcttcccaatta	9	11	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:21226106G>T	ENST00000233242.1	-	29	12315	c.12188C>A	c.(12187-12189)gCt>gAt	p.A4063D	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4063					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)					CAAGCCAGAAGCTGCCTCTTC	0.468																																					p.A4063D		.											.	APOB-175	0			c.C12188A						.						196	212	206					2																	21226106		2203	4300	6503	SO:0001583	missense	338	exon29			CCAGAAGCTGCCT	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.12188C>A	2.37:g.21226106G>T	ENSP00000233242:p.Ala4063Asp	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	91	16	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631237	0.46944	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38722	1.12	5.89	1.88	0.25563	.	0.485095	0.18783	N	0.131282	T	0.41627	0.1167	M	0.64997	1.995	0.09310	N	0.999994	P	0.45902	0.868	B	0.42319	0.383	T	0.34329	-0.9833	10	0.87932	D	0	.	11.8845	0.52594	0.2298:0.0:0.7702:0.0	.	4063	P04114	APOB_HUMAN	D	4063	ENSP00000233242:A4063D	ENSP00000233242:A4063D	A	-	2	0	APOB	21079611	0.107000	0.21998	0.070000	0.20053	0.926000	0.56050	1.321000	0.33678	0.320000	0.23234	0.655000	0.94253	GCT	.		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21226106	G	T	21226106	3	4	25	1	0	0	0	0	1	0	0	0	785	971	34	3	1507	3	APOB	2	21226106	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	17833778	21226106	221973267	13	4227											
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	36764534	36764534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtgccacttcagtgGgaaggcctatgccgacgagg	17	9	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:36764534G>C	ENST00000280527.2	+	14	2835	c.2468G>C	c.(2467-2469)gGg>gCg	p.G823A	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	823	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACTTCAGTGGGAAGGCCTAT	0.562																																					p.G823A		.											.	CRIM1-118	0			c.G2468C						.						98	91	94					2																	36764534		2203	4300	6503	SO:0001583	missense	51232	exon14			TCAGTGGGAAGGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2468G>C	2.37:g.36764534G>C	ENSP00000280527:p.Gly823Ala	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	95	50	NM_016441	0	0	11	13	2	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.854133	0.91355	.	.	ENSG00000150938	ENST00000280527	T	0.73258	-0.73	5.12	5.12	0.69794	von Willebrand factor, type C (3);	0.202132	0.42964	D	0.000622	D	0.85022	0.5602	H	0.94964	3.605	0.51767	D	0.999938	P	0.52692	0.955	P	0.51615	0.675	D	0.89697	0.3902	10	0.72032	D	0.01	-17.2493	17.6738	0.88225	0.0:0.0:1.0:0.0	.	823	Q9NZV1	CRIM1_HUMAN	A	823	ENSP00000280527:G823A	ENSP00000280527:G823A	G	+	2	0	CRIM1	36618038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.475000	0.90417	2.395000	0.81488	0.627000	0.83407	GGG	.		0.562	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		C	36764534	G	C	36764534	3	2	25	1	0	0	0	0	1	0	0	0	3880	1232	43	3	2522	3	CRIM1	2	36764534	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	15538428	36764534	206434839	14	4228											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84908502	84908502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttaaatggtttcctgAgtgactttccaccagctgta	7	11	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:84908502A>G	ENST00000237449.6	+	41	6774	c.6766A>G	c.(6766-6768)Agt>Ggt	p.S2256G	DNAH6_ENST00000389394.3_Missense_Mutation_p.S2256G|DNAH6_ENST00000398278.2_Missense_Mutation_p.S2256G|DNAH6_ENST00000602588.1_Missense_Mutation_p.S277G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2256	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						TGGTTTCCTGAGTGACTTTCC	0.373																																					p.S2256G		.											.	DNAH6-69	0			c.A6766G						.						104	89	93					2																	84908502		692	1591	2283	SO:0001583	missense	1768	exon42			TTCCTGAGTGACT	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.6766A>G	2.37:g.84908502A>G	ENSP00000237449:p.Ser2256Gly	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	105	31	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	4.316	0.057903	0.08339	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.36157	1.27;1.27;1.27	5.29	-6.49	0.01890	.	.	.	.	.	T	0.17365	0.0417	L	0.33710	1.025	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.31971	-0.9924	9	0.22706	T	0.39	.	0.0277	0.00005	0.3005:0.1855:0.214:0.3	.	2256;2256	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	G	2256	ENSP00000374045:S2256G;ENSP00000381326:S2256G;ENSP00000237449:S2256G	ENSP00000237449:S2256G	S	+	1	0	DNAH6	84762013	0.000000	0.05858	0.005000	0.12908	0.326000	0.28443	-0.097000	0.11042	-0.624000	0.05611	-0.357000	0.07601	AGT	.		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84908502	A	G	84908502	3	3	25	1	0	0	0	0	1	0	0	0	4619	304	11	4	6928	4	DNAH6	2	84908502	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	48143968	84908502	158290871	15	4229											
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	133540078	133540078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgcttgtttcaaaagTgcttggatgctgagtcctcc	10	9	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:133540078T>C	ENST00000409261.1	-	14	4679	c.4306A>G	c.(4306-4308)Act>Gct	p.T1436A	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1436A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1436										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTCAAAAGTGCTTGGATGC	0.572																																					p.T1436A		.											.	.	0			c.A4306G						.						49	49	49					2																	133540078		1948	4138	6086	SO:0001583	missense	344148	exon14			CAAAAGTGCTTGG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4306A>G	2.37:g.133540078T>C	ENSP00000387128:p.Thr1436Ala	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	94	10	NM_207363	0	0	0	0	0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	0.423	-0.907487	0.02434	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09073	3.02;3.02	5.42	-3.35	0.04928	.	0.882556	0.09280	U	0.823808	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.46952	-0.9154	10	0.10902	T	0.67	.	2.4907	0.04609	0.1128:0.2826:0.116:0.4886	.	1436	O14513	NCKP5_HUMAN	A	1436	ENSP00000387128:T1436A;ENSP00000380603:T1436A	ENSP00000380603:T1436A	T	-	1	0	NCKAP5	133256548	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	0.043000	0.13971	-0.362000	0.08113	-0.438000	0.05819	ACT	.		0.572	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133540078	T	C	133540078	3	2	25	1	0	0	0	0	1	0	0	0	10262	1696	59	4	1451	4	NCKAP5	2	133540078	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	48631576	133540078	109659295	16	4230											
GTDC1	79712	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	144764748	144764748	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattggcatgccttgacttaCcacctgtgaggccagacaat	9	11	0	3	rs199607709		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:144764748C>A	ENST00000392869.2	-	6	1028		c.e6+1		GTDC1_ENST00000392867.3_Splice_Site|GTDC1_ENST00000542155.1_Splice_Site|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Splice_Site|GTDC1_ENST00000344850.4_Splice_Site|GTDC1_ENST00000409214.1_Splice_Site|GTDC1_ENST00000463875.2_Splice_Site	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						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)		CCTTGACTTACCACCTGTGAG	0.353																																					.		.											.	GTDC1-91	0			c.875+1G>T						.						79	72	75					2																	144764748		2203	4300	6503	SO:0001630	splice_region_variant	79712	exon8			GACTTACCACCTG	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.875+1G>T	2.37:g.144764748C>A		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	130	61	NM_001164629	0	0	0	0	0	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Splice_Site	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712310	0.89112	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTDC1	144481218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.634000	0.67833	2.832000	0.97577	0.655000	0.94253	.	.		0.353	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	Intron	A	144764748	C	A	144764748	5	1	25	1	0	0	0	0	0	0	1	0	6878	521	18	3	524	3	GTDC1	2	144764748	Splice_Site	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	11224670	144764748	98434625	17	4231											
XIRP2	129446	broad.mit.edu	37	chr2	168098406	168098406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaagagatgacaaccccaGccaagcagattaaggtaaag	9	9	0	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:168098406G>T	ENST00000409728.1	+	9	1350	c.1261G>T	c.(1261-1263)Gcc>Tcc	p.A421S	XIRP2_ENST00000409605.1_Missense_Mutation_p.A166S|XIRP2_ENST00000409195.1_Missense_Mutation_p.A388S|XIRP2_ENST00000420519.1_Missense_Mutation_p.A421S|XIRP2_ENST00000295237.9_Missense_Mutation_p.A388S|XIRP2_ENST00000409273.1_Missense_Mutation_p.A166S|XIRP2_ENST00000409043.1_Missense_Mutation_p.A388S|XIRP2_ENST00000409756.2_Missense_Mutation_p.A388S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	213					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						GACAACCCCAGCCAAGCAGAT	0.353																																					p.A421S		.											.	XIRP2-104	0			c.G1261T						.						112	106	108					2																	168098406		1836	4085	5921	SO:0001583	missense	129446	exon9			ACCCCAGCCAAGC	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.1261G>T	2.37:g.168098406G>T	ENSP00000386619:p.Ala421Ser	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_001199143	0	0	0	0	0	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	18.53	3.642931	0.67244	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.78481	-1.16;-1.16;3.81;-1.16;-1.16;3.81;3.84;-1.18	5.27	2.43	0.29744	.	0.546336	0.20468	N	0.091747	T	0.73249	0.3563	L	0.50333	1.59	0.33924	D	0.641261	B;P;B;B;B	0.46784	0.423;0.884;0.378;0.173;0.141	B;P;B;B;B	0.46253	0.098;0.509;0.109;0.056;0.041	T	0.76208	-0.3043	10	0.32370	T	0.25	-0.8313	9.9078	0.41386	0.228:0.0:0.7719:0.0	.	213;388;421;213;166	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	S	388;421;388;388;421;388;166;166	ENSP00000386454:A388S;ENSP00000386619:A421S;ENSP00000386840:A388S;ENSP00000386724:A388S;ENSP00000415541:A421S;ENSP00000295237:A388S;ENSP00000387255:A166S;ENSP00000386981:A166S	ENSP00000295237:A388S	A	+	1	0	XIRP2	167806652	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	1.562000	0.36353	0.723000	0.32274	0.591000	0.81541	GCC	.		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		T	168098406	G	T	168098406	3	4	25	1	0	0	0	0	1	0	0	0	17479	971	34	3	1188	3	XIRP2	2	168098406	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	23333658	168098406	75100967	18	4232											
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241728660	241728660	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggcttactgaggtgTgcgaccagtaggagtagtca	15	9	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:241728660T>A	ENST00000320389.7	-	3	334	c.176A>T	c.(175-177)cAc>cTc	p.H59L	KIF1A_ENST00000498729.2_Missense_Mutation_p.H59L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACTGAGGTGTGCGACCAGTA	0.612																																					p.H59L		.											.	KIF1A-91	0			c.A176T						.						62	72	68					2																	241728660		2162	4286	6448	SO:0001583	missense	547	exon3			GAGGTGTGCGACC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.176A>T	2.37:g.241728660T>A	ENSP00000322791:p.His59Leu	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	129	28	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609305	0.87258	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.88277	-2.36;-2.36;-2.36	4.52	4.52	0.55395	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.91405	0.7288	L	0.58810	1.83	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.985	P;D;P	0.65323	0.774;0.934;0.814	D	0.89205	0.3560	10	0.22109	T	0.4	.	12.8272	0.57726	0.0:0.0:0.0:1.0	.	59;59;59	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	59	ENSP00000322791:H59L;ENSP00000438388:H59L;ENSP00000384231:H59L	ENSP00000322791:H59L	H	-	2	0	KIF1A	241377333	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.803000	0.85983	1.682000	0.51000	0.379000	0.24179	CAC	.		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241728660	T	A	241728660	3	1	25	1	0	0	0	0	1	0	0	0	8310	1696	59	5	5076	5	KIF1A	2	241728660	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	73630254	241728660	1470713	19	4233											
SNED1	25992	hgsc.bcm.edu	37	chr2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcgcctgccggagcTgcgcctgctcaatgaccaca	12	18	1	1	rs17440466	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P|MTERFD2_ENST00000464344.2_5'Flank	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		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)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5	6	6		3683	4.4	1	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	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.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	17	6	NM_001080437	0	0	6	6	0	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	242011084	T	C	242011084	3	2	25	1	0	0	0	0	1	0	0	0	14890	1580	55	4	3781	4	SNED1	2	242011084	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	282424	242011084	1188289	20	4234											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	rs121913407		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.S45P	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	c.T133C						.						84	74	78					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GCTCCTTCTCTGA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	155	81	NM_001098209	0	0	127	362	235	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT	.		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		C	41266136	T	C	41266136	3	2	25	1	0	0	0	0	1	0	0	0	4025	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10		41266136	156756294	21	4235											
VIPR1	7433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42577654	42577654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctggaaccccaaatacCggcacccgtcgggaggcagc	14	14	0	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:42577654C>T	ENST00000325123.4	+	13	1368	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	VIPR1_ENST00000543411.1_Missense_Mutation_p.R371W|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.R378W|VIPR1_ENST00000438259.2_Missense_Mutation_p.R209W	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	419					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCCAAATACCGGCACCCGTC	0.697																																					p.R419W		.											.	VIPR1-91	0			c.C1255T						.						18	21	20					3																	42577654		2189	4293	6482	SO:0001583	missense	7433	exon13			AAATACCGGCACC	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1255C>T	3.37:g.42577654C>T	ENSP00000327246:p.Arg419Trp	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	241	74	NM_004624	0	0	0	0	0	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788953	0.70337	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.01	4.11	0.48088	.	0.208186	0.42053	D	0.000763	T	0.73713	0.3622	L	0.43152	1.355	0.30315	N	0.788102	P;D;D;P	0.69078	0.914;0.997;0.983;0.914	B;P;P;B	0.49502	0.28;0.613;0.491;0.28	T	0.75266	-0.3378	10	0.66056	D	0.02	.	15.2102	0.73219	0.0:0.8584:0.1416:0.0	.	392;209;371;419	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	W	378;371;209;419	ENSP00000394950:R378W;ENSP00000445701:R371W;ENSP00000415371:R209W;ENSP00000327246:R419W	ENSP00000327246:R419W	R	+	1	2	VIPR1	42552658	1.000000	0.71417	0.118000	0.21660	0.396000	0.30629	7.771000	0.85420	1.065000	0.40693	0.561000	0.74099	CGG	.		0.697	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		T	42577654	C	T	42577654	3	4	25	1	0	0	0	0	1	0	0	0	17218	643	23	1	1305	1	VIPR1	3	42577654	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1311518	42577654	155444776	22	4236											
TKT	7086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	53269001	53269001	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagcctcgtacatacccGaaggcctcgcaccgcttctg	8	18	1	0	rs140465934	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:53269001G>A	ENST00000462138.1	-	5	715	c.627C>T	c.(625-627)ttC>ttT	p.F209F	TKT_ENST00000296289.6_Silent_p.F162F|TKT_ENST00000423525.2_Silent_p.F209F|TKT_ENST00000461139.1_5'Flank|TKT_ENST00000423516.1_Silent_p.F217F			P29401	TKT_HUMAN	transketolase	209					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GTACATACCCGAAGGCCTCGC	0.597																																					p.F217F	Colon(133;1506 2347 35238 42177)	.											.	TKT-92	0			c.C651T						.	G	,	0,4406		0,0,2203	67	71	70		627,627	-3.2	1	3	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	TKT	NM_001064.3,NM_001135055.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	209/624,209/624	53269001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7086	exon6			ATACCCGAAGGCC		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.627C>T	3.37:g.53269001G>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	64	28	NM_001258028	0	0	0	0	0	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	CCDS2871.1																																																																																			G|1.000;A|0.000		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			A	53269001	G	A	53269001	2	1	25	1	0	0	0	0	0	0	0	1	15981	1049	37	1		1	TKT	3	53269001	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	10691347	53269001	144753429	23	4237											
RBP1	5947	bcgsc.ca	37	chr3	139258411	139258411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagttggccacaagcggGcgggacggctggagactgcc	17	12	0	1	rs11549984	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:139258411G>A	ENST00000483943.2	-	1	150	c.150C>T	c.(148-150)cgC>cgT	p.R50R	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Silent_p.R50R|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000232219.2_Silent_p.R50R	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	0					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCACAAGCGGGCGGGACGGCT	0.662													G|||	431	0.0860623	0.0537	0.121	5008	,	,		13021	0.0843		0.1183	False		,,,				2504	0.0736				p.R50R		.											.	RBP1-514	0			c.C150T						.	G	,,	261,4141		3,255,1943	22	17	19		150,150,150	2.2	0.7	3	dbSNP_120	19	992,7606		64,864,3371	no	coding-synonymous,coding-synonymous,coding-synonymous	RBP1	NM_001130992.1,NM_001130993.1,NM_002899.3	,,	67,1119,5314	AA,AG,GG		11.5376,5.9291,9.6385	,,	50/158,50/154,50/198	139258411	1253,11747	2201	4299	6500	SO:0001819	synonymous_variant	5947	exon1			AAGCGGGCGGGAC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.150C>T	3.37:g.139258411G>A		Somatic	200	3		WXS	Illumina GAIIx	Phase_I	190	7	NM_002899	0	0	108	108	0	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Silent	SNP	ENST00000483943.2	37	CCDS46925.1																																																																																			G|0.910;A|0.090		0.662	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		A	139258411	G	A	139258411	2	1	25	1	0	0	0	0	0	0	0	1	13200	1190	42	3		3	RBP1	3	139258411	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	85989410	139258411	58764019	24	4238											
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142286929	142286929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttacatctgtaagtatccGgtcaatgaattgacacagaa	7	7	2	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:142286929G>A	ENST00000350721.4	-	2	248	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ATR_ENST00000383101.3_Missense_Mutation_p.R43W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	43					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						GTAAGTATCCGGTCAATGAAT	0.279								Other conserved DNA damage response genes																													p.R43W		.											.	ATR-1139	0			c.C127T						.						76	77	77					3																	142286929		2203	4296	6499	SO:0001583	missense	545	exon2			GTATCCGGTCAAT	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.127C>T	3.37:g.142286929G>A	ENSP00000343741:p.Arg43Trp	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	130	68	NM_001184	0	0	1	2	1	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638080	0.67130	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.38560	1.13;1.13	4.94	-3.0	0.05480	.	0.067699	0.56097	D	0.000031	T	0.57651	0.2068	M	0.62723	1.935	0.31642	N	0.647863	D	0.89917	1.0	D	0.69654	0.965	T	0.68209	-0.5469	10	0.87932	D	0	-10.4651	18.3713	0.90408	0.0:0.0:0.2592:0.7407	.	43	Q13535	ATR_HUMAN	W	43	ENSP00000343741:R43W;ENSP00000372581:R43W	ENSP00000343741:R43W	R	-	1	2	ATR	143769619	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	0.502000	0.22594	-0.432000	0.07297	0.467000	0.42956	CGG	.		0.279	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142286929	G	A	142286929	3	1	25	1	0	0	0	0	1	0	0	0	1205	1115	39	1	7991	1	ATR	3	142286929	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	3028518	142286929	55735501	25	4239											
TMEM41A	90407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	185212464	185212464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgttcagaattggggccGagaggttcaagaaccagttt	13	6	2	3	rs151156113		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:185212464G>A	ENST00000421852.1	-	4	616	c.521C>T	c.(520-522)tCg>tTg	p.S174L	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	174						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AATTGGGGCCGAGAGGTTCAA	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		19968	0		0	False		,,,				2504	0				p.S174L		.											.	TMEM41A-90	0			c.C521T						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	161	158	159		521	5.8	1	3	dbSNP_134	159	0,8600		0,0,4300	no	missense	TMEM41A	NM_080652.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	174/265	185212464	1,13005	2203	4300	6503	SO:0001583	missense	90407	exon4			GGGGCCGAGAGGT	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.521C>T	3.37:g.185212464G>A	ENSP00000406885:p.Ser174Leu	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	90	6	NM_080652	0	0	77	85	8	A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	CCDS3271.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.6	4.177133	0.78564	2.27E-4	0.0	ENSG00000163900	ENST00000421852	.	.	.	5.81	5.81	0.92471	.	0.194395	0.45867	D	0.000333	T	0.44371	0.1290	N	0.16790	0.44	0.80722	D	1	B	0.34103	0.437	B	0.32583	0.148	T	0.30416	-0.9979	9	0.22109	T	0.4	-9.3284	20.0838	0.97793	0.0:0.0:1.0:0.0	.	174	Q96HV5	TM41A_HUMAN	L	174	.	ENSP00000406885:S174L	S	-	2	0	TMEM41A	186695158	1.000000	0.71417	0.986000	0.45419	0.800000	0.45204	5.435000	0.66532	2.741000	0.93983	0.655000	0.94253	TCG	G|0.999;A|0.000		0.448	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		A	185212464	G	A	185212464	3	1	25	1	0	0	0	0	1	0	0	0	16211	1059	37	1	281	1	TMEM41A	3	185212464	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	42925535	185212464	12809966	26	4240											
PROM1	8842	hgsc.bcm.edu;broad.mit.edu	37	chr4	15982079	15982079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaatccattcgacgatAgtacttagccagttttaccg	7	12	0	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:15982079A>C	ENST00000510224.1	-	24	2703	c.2455T>G	c.(2455-2457)Tat>Gat	p.Y819D	PROM1_ENST00000447510.2_Missense_Mutation_p.Y819D|PROM1_ENST00000540805.1_Missense_Mutation_p.Y819D|PROM1_ENST00000508167.1_Missense_Mutation_p.Y810D|PROM1_ENST00000539194.1_Missense_Mutation_p.Y819D|PROM1_ENST00000505450.1_Missense_Mutation_p.Y810D|PROM1_ENST00000543373.1_Missense_Mutation_p.Y810D			O43490	PROM1_HUMAN	prominin 1	819					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATTCGACGATAGTACTTAGCC	0.418																																					p.Y819D		.											.	PROM1-207	0			c.T2455G						.						50	46	48					4																	15982079		1806	4016	5822	SO:0001583	missense	8842	exon23			GACGATAGTACTT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2455T>G	4.37:g.15982079A>C	ENSP00000426809:p.Tyr819Asp	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_006017	0	0	0	0	0	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.551648|4.551648	0.86127|0.86127	.|.	.|.	ENSG00000007062|ENSG00000007062	ENST00000513946|ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.|T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.108540	.|0.64402	.|D	.|0.000004	D|D	0.82806|0.82806	0.5117|0.5117	M|M	0.80422|0.80422	2.495|2.495	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	.|0.91635	.|0.998;0.998;0.998;0.998;0.991;0.999	D|D	0.85254|0.85254	0.1046|0.1046	5|10	.|0.87932	.|D	.|0	0.8689|0.8689	16.2988|16.2988	0.82793|0.82793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|810;819;810;819;810;819	.|O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.|.;.;.;.;.;PROM1_HUMAN	R|D	69|819;819;819;810;810;819;810	.|ENSP00000415481:Y819D;ENSP00000438045:Y819D;ENSP00000443620:Y819D;ENSP00000426090:Y810D;ENSP00000427346:Y810D;ENSP00000426809:Y819D;ENSP00000445526:Y810D	.|ENSP00000415481:Y819D	L|Y	-|-	2|1	0|0	PROM1|PROM1	15591177|15591177	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.773000|0.773000	0.43773|0.43773	8.888000|8.888000	0.92464|0.92464	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CTA|TAT	.		0.418	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		C	15982079	A	C	15982079	3	2	25	1	0	0	0	0	1	0	0	0	12597	420	15	5	158	5	PROM1	4	15982079	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10		15982079	175172197	27	4241											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	25	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	32510355	48492434	142661842	28	4242											
AMTN	401138	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	71394907	71394907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcttttagggcactAtcctaagctcagaggaattg	9	8	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:71394907A>G	ENST00000339336.4	+	7	467	c.337A>G	c.(337-339)Atc>Gtc	p.I113V	AMTN_ENST00000504451.1_Missense_Mutation_p.I112V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	113					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTAGGGCACTATCCTAAGCTC	0.259																																					p.I113V		.											.	AMTN-153	0			c.A337G						.						40	42	41					4																	71394907		2188	4278	6466	SO:0001583	missense	401138	exon7			GGCACTATCCTAA	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.337A>G	4.37:g.71394907A>G	ENSP00000341013:p.Ile113Val	Somatic	318	2		WXS	Illumina GAIIx	Phase_I	581	363	NM_212557	0	0	0	0	0	Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284924	0.23392	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.35048	1.33;1.33	5.2	-0.0841	0.13691	.	0.490245	0.19342	N	0.116628	T	0.16769	0.0403	N	0.17082	0.46	0.39665	D	0.970676	B;B	0.12630	0.006;0.006	B;B	0.20184	0.028;0.028	T	0.10064	-1.0646	10	0.16420	T	0.52	-7.2016	4.6806	0.12732	0.5529:0.168:0.2791:0.0	.	112;113	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	V	113;112	ENSP00000341013:I113V;ENSP00000422452:I112V	ENSP00000341013:I113V	I	+	1	0	AMTN	71429496	0.055000	0.20627	0.685000	0.30070	0.935000	0.57460	0.255000	0.18333	0.061000	0.16311	0.383000	0.25322	ATC	.		0.259	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		G	71394907	A	G	71394907	3	3	25	1	0	0	0	0	1	0	0	0	590	449	16	4	359	4	AMTN	4	71394907	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	22902473	71394907	119759369	29	4243											
DSPP	1834	bcgsc.ca	37	chr4	88537270	88537270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgaaagcagcgaCagcagtgacagcagcgacag	14	10	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:88537270C>T	ENST00000282478.7	+	4	3489	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1152D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1152	Asp/Ser-rich.			D -> N (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)		aaagcagcgacagcagtgaca	0.557																																					p.D1152D		.											.	DSPP-90	0			c.C3456T						.						47	61	56					4																	88537270		1584	2865	4449	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGT	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.3456C>T	4.37:g.88537270C>T		Somatic	472	5		WXS	Illumina GAIIx	Phase_I	839	109	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537270	C	T	88537270	2	4	25	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537270	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	17142363	88537270	102617006	30	4244											
MEPE	56955	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	88767172	88767172	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaaagagaaaagaaaAgaaggcagtagtgatgcagc	11	7	1	4			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:88767172A>T	ENST00000424957.3	+	4	1225	c.1152A>T	c.(1150-1152)aaA>aaT	p.K384N	MEPE_ENST00000540395.1_Missense_Mutation_p.K271N|MEPE_ENST00000497649.2_Missense_Mutation_p.K360N|MEPE_ENST00000395102.4_Missense_Mutation_p.K415N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.K384N|MEPE_ENST00000560249.1_Missense_Mutation_p.K271N	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	384					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)		AGAAAAGAAAAGAAGGCAGTA	0.433																																					p.K384N		.											.	MEPE-93	0			c.A1152T						.						57	57	57					4																	88767172		2203	4300	6503	SO:0001583	missense	56955	exon4			AAGAAAAGAAGGC	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.1152A>T	4.37:g.88767172A>T	ENSP00000416984:p.Lys384Asn	Somatic	290	1		WXS	Illumina GAIIx	Phase_I	614	80	NM_020203	0	0	0	0	0	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310828	0.81358	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.99	-0.528	0.11905	.	0.527108	0.17594	N	0.168659	T	0.52419	0.1733	M	0.76002	2.32	0.09310	N	1	D	0.64830	0.994	P	0.55923	0.787	T	0.43540	-0.9385	10	0.72032	D	0.01	-12.633	2.7371	0.05243	0.4917:0.0:0.1836:0.3247	.	384	Q9NQ76	MEPE_HUMAN	N	384;415;360;271;384	ENSP00000416984:K384N;ENSP00000378534:K415N;ENSP00000422747:K360N;ENSP00000443491:K271N;ENSP00000354341:K384N	ENSP00000354341:K384N	K	+	3	2	MEPE	88986196	0.004000	0.15560	0.160000	0.22671	0.857000	0.48899	0.280000	0.18790	0.340000	0.23745	0.533000	0.62120	AAA	.		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			T	88767172	A	T	88767172	3	4	25	1	0	0	0	0	1	0	0	0	9516	69	3	5	1162	5	MEPE	4	88767172	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	229902	88767172	102387104	31	4245											
CYP2U1	113612	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	108853207	108853216	+	Frame_Shift_Del	DEL	GCGCGAGGCG	GCGCGAGGCG	-													ctcagcgacttccacagcgtGcgcgaggcgctggtgcagca							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	GCGCGAGGCG	GCGCGAGGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:108853207_108853216delGCGCGAGGCG	ENST00000332884.6	+	1	683_692	c.408_417delGCGCGAGGCG	c.(406-417)gtgcgcgaggcgfs	p.VREA136fs	RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_5'UTR|CYP2U1_ENST00000513302.1_3'UTR	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	136					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TCCACAGCGTGCGCGAGGCGCTGGTGCAGC	0.657																																					p.136_139del		.											.	CYP2U1-90	0			c.408_417del						.																																			SO:0001589	frameshift_variant	113612	exon1			CAGCGTGCGCGAG	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.408_417delGCGCGAGGCG	4.37:g.108853207_108853216delGCGCGAGGCG	ENSP00000333212:p.Val136fs	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	161	29	NM_183075	0	0	0	0	0	B2RMV7|Q96EQ6	Frame_Shift_Del	DEL	ENST00000332884.6	37	CCDS34047.1																																																																																			.		0.657	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		-	108853216	GCGCGAGGCG	-	108853207	7	5	25	1	0	1	0	1	0	0	0	0	4184	1306	46	0	410	0	CYP2U1	4	108853207	Frame_Shift_Del	DEL	GCGCGAGGCG	TCGA-OR-A5JY-01A-31D-A29I-10	20086035	108853207	82301069	32	4246											
GUCY1A3	2982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	156618116	156618116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacgagtcttcagaggagGcagcaggaagctcagagagc	14	9	3	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:156618116G>A	ENST00000296518.7	+	3	306	c.97G>A	c.(97-99)Gca>Aca	p.A33T	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.A33T|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000515602.1_3'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	33					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGAGGAGGCAGCAGGAAG	0.488																																					p.A33T		.											.	GUCY1A3-93	0			c.G97A						.						108	96	100					4																	156618116		2203	4300	6503	SO:0001583	missense	2982	exon3			GAGGAGGCAGCAG		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.97G>A	4.37:g.156618116G>A	ENSP00000296518:p.Ala33Thr	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	129	33	NM_001130687	0	0	3	3	0	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	8.283	0.816011	0.16607	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.69;-1.83;-1.83;-1.83	5.93	1.75	0.24633	.	0.666561	0.13996	N	0.348443	T	0.68155	0.2970	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20671	0.006;0.006;0.047	B;B;B	0.14023	0.01;0.01;0.01	T	0.49862	-0.8894	10	0.11182	T	0.66	.	3.4542	0.07510	0.1551:0.0978:0.5417:0.2055	.	33;33;33	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	T	33	ENSP00000424361:A33T;ENSP00000421493:A33T;ENSP00000426968:A33T;ENSP00000412201:A33T;ENSP00000296518:A33T;ENSP00000426040:A33T	ENSP00000296518:A33T	A	+	1	0	GUCY1A3	156837566	0.000000	0.05858	0.097000	0.21041	0.484000	0.33280	0.548000	0.23314	0.858000	0.35431	0.591000	0.81541	GCA	.		0.488	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156618116	G	A	156618116	3	1	25	1	0	0	0	0	1	0	0	0	6921	1203	42	3	99	3	GUCY1A3	4	156618116	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	47764909	156618116	34536160	33	4247											
STOX2	56977	bcgsc.ca	37	chr4	184931818	184931818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacacctctagtgagacGgtgctcacggcaccatcacc	9	15	3	1	rs4861597	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:184931818G>A	ENST00000308497.4	+	3	3262	c.1827G>A	c.(1825-1827)acG>acA	p.T609T	STOX2_ENST00000438269.1_Silent_p.T609T	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	609					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)		CTAGTGAGACGGTGCTCACGG	0.502													G|||	2144	0.428115	0.4123	0.3156	5008	,	,		20530	0.6022		0.2972	False		,,,				2504	0.4847				p.T609T		.											.	STOX2-22	0			c.G1827A						.	G		1533,2383		301,931,726	54	55	55		1827	-7.6	0.1	4	dbSNP_111	55	2232,6076		318,1596,2240	no	coding-synonymous	STOX2	NM_020225.1		619,2527,2966	AA,AG,GG		26.8657,39.1471,30.8001		609/927	184931818	3765,8459	1958	4154	6112	SO:0001819	synonymous_variant	56977	exon3			TGAGACGGTGCTC	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.1827G>A	4.37:g.184931818G>A		Somatic	433	4		WXS	Illumina GAIIx	Phase_I	209	8	NM_020225	0	0	0	0	0	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																			G|0.583;A|0.417		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		A	184931818	G	A	184931818	2	1	25	1	0	0	0	0	0	0	0	1	15367	1103	39	1		1	STOX2	4	184931818	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	28313702	184931818	6222458	34	4248											
NSUN2	54888	hgsc.bcm.edu	37	chr5	6633042	6633042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgccatcctccgcgtcCtccggccgctgctgttgctg	12	18	0	0	rs10062086	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.E17E|SRD5A1_ENST00000538824.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					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						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2	3	2					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	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.51G>A	5.37:g.6633042C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_017755	0	0	0	18	18	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6633042	C	T	6633042	2	4	25	1	0	0	0	0	0	0	0	1	10717	680	24	3		3	NSUN2	5	6633042	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		6633042	174282218	35	4249											
DAB2	1601	bcgsc.ca	37	chr5	39376885	39376906	+	Frame_Shift_Del	DEL	CGCGGGCACAGCAGGTGGCTGC	CGCGGGCACAGCAGGTGGCTGC	-													gaagtctgctctcccttccgCgcgggcacagcaggtggctg					rs142209579|rs199699595|rs374737969	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	CGCGGGCACAGCAGGTGGCTGC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:39376885_39376906delCGCGGGCACAGCAGGTGGCTGC	ENST00000320816.6	-	12	2450_2471	c.1983_2004delGCAGCCACCTGCTGTGCCCGCG	c.(1981-2004)cggcagccacctgctgtgcccgcgfs	p.RQPPAVPA661fs	DAB2_ENST00000509337.1_Frame_Shift_Del_p.RQPPAVPA640fs|DAB2_ENST00000339788.6_Frame_Shift_Del_p.RQPPAVPA443fs|DAB2_ENST00000545653.1_Frame_Shift_Del_p.RQPPAVPA640fs	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	661	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.A668A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTCCCTTCCGCGCGGGCACAGCAGGTGGCTGCCGCAGTTGGA	0.505											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.661_668del		.											.	DAB2-227	1	Substitution - coding silent(1)	large_intestine(1)	c.1983_2004del						.																																			SO:0001589	frameshift_variant	1601	exon12			CTTCCGCGCGGGC	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1983_2004delGCAGCCACCTGCTGTGCCCGCG	5.37:g.39376885_39376906delCGCGGGCACAGCAGGTGGCTGC	ENSP00000313391:p.Arg661fs	Somatic	97	0	885	WXS	Illumina GAIIx	Phase_I	127	6	NM_001343	0	0	0	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Frame_Shift_Del	DEL	ENST00000320816.6	37	CCDS34149.1																																																																																			.		0.505	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		-	39376906	CGCGGGCACAGCAGGTGGCTGC	-	39376885	7	5	25	1	0	1	0	1	0	0	0	0	4227	755	27	0	320	0	DAB2	5	39376885	Frame_Shift_Del	DEL	CGCGGGCACAGCAGGTGGCTGC	TCGA-OR-A5JY-01A-31D-A29I-10	32743843	39376885	141538375	36	4250											
C6	729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	41143080	41143080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttgaagcactgtgggggCaataggcagacacatttgga	13	9	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:41143080C>A	ENST00000263413.3	-	18	2916	c.2652G>T	c.(2650-2652)ttG>ttT	p.L884F	C6_ENST00000337836.5_Missense_Mutation_p.L884F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	884	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTGGGGGCAATAGGCAGA	0.433																																					p.L884F		.											.	C6-95	0			c.G2652T						.						126	110	116					5																	41143080		2203	4300	6503	SO:0001583	missense	729	exon18			TGGGGGCAATAGG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2652G>T	5.37:g.41143080C>A	ENSP00000263413:p.Leu884Phe	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	243	35	NM_001115131	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837252	0.32513	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60797	0.16;0.16	5.71	0.75	0.18387	Factor I / membrane attack complex (1);	0.568856	0.17279	N	0.180096	T	0.31606	0.0802	N	0.14661	0.345	0.37189	D	0.903837	B	0.23058	0.079	B	0.18871	0.023	T	0.09952	-1.0651	10	0.45353	T	0.12	-4.7452	2.0121	0.03490	0.1093:0.4259:0.1876:0.2772	.	884	P13671	CO6_HUMAN	F	884	ENSP00000338861:L884F;ENSP00000263413:L884F	ENSP00000263413:L884F	L	-	3	2	C6	41178837	0.144000	0.22641	0.617000	0.29091	0.708000	0.40852	-0.369000	0.07533	0.105000	0.17753	-0.142000	0.14014	TTG	.		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			A	41143080	C	A	41143080	3	1	25	1	0	0	0	0	1	0	0	0	2322	709	25	3	156	3	C6	5	41143080	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1766195	41143080	139772180	37	4251											
RGS7BP	401190	broad.mit.edu	37	chr5	63802481	63802482	+	Frame_Shift_Ins	INS	-	-	C													caccgaatgggcgcaaaaagINScgccccagccggtccacccg							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:63802481_63802482insC	ENST00000334025.2	+	1	356_357	c.30_31insC	c.(31-33)cgcfs	p.R11fs	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	11					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)		GGCGCAAAAAGCGCCCCAGCCG	0.683																																					p.K10fs		.											.	RGS7BP-68	0			c.30_31insC						.																																			SO:0001589	frameshift_variant	401190	exon1			CAAAAAGCGCCCC	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.31dupC	5.37:g.63802482_63802482dupC	ENSP00000334851:p.Arg11fs	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	185	7	NM_001029875	0	0	0	0	0	B7Z3X1	Frame_Shift_Ins	INS	ENST00000334025.2	37	CCDS34170.1																																																																																			.		0.683	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		C	63802482	-	C	63802481	7	5	25	1	0	1	1	0	0	0	0	0	13356	962	34	0	32	0	RGS7BP	5	63802481	Frame_Shift_Ins	INS	-	TCGA-OR-A5JY-01A-31D-A29I-10	22659401	63802481	117112779	38	4252											
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79028141	79028141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcaatcaagaaagaacagGaacccacagcagcactcact	7	13	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:79028141G>A	ENST00000446378.2	+	2	3584	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1185					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAGAACAGGAACCCACAGC	0.423																																					p.E1185K		.											.	CMYA5-77	0			c.G3553A						.						56	53	54					5																	79028141		1926	4142	6068	SO:0001583	missense	202333	exon2			GAACAGGAACCCA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3553G>A	5.37:g.79028141G>A	ENSP00000394770:p.Glu1185Lys	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	351	43	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746246	0.30955	.	.	ENSG00000164309	ENST00000446378	T	0.49432	0.78	5.81	3.05	0.35203	.	0.515814	0.18097	N	0.151817	T	0.41328	0.1154	M	0.67953	2.075	0.09310	N	1	B	0.21071	0.051	B	0.17979	0.02	T	0.36504	-0.9745	10	0.40728	T	0.16	.	4.9915	0.14216	0.2685:0.2762:0.4553:0.0	.	1185	Q8N3K9	CMYA5_HUMAN	K	1185	ENSP00000394770:E1185K	ENSP00000394770:E1185K	E	+	1	0	CMYA5	79063897	0.000000	0.05858	0.918000	0.36340	0.894000	0.52154	0.205000	0.17356	0.366000	0.24427	0.655000	0.94253	GAA	.		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79028141	G	A	79028141	3	1	25	1	0	0	0	0	1	0	0	0	3597	1175	41	3	3559	3	CMYA5	5	79028141	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	15225660	79028141	101887119	39	4253											
RREB1	6239	hgsc.bcm.edu	37	chr6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcggcctgggcggggGccacaagggccgcaagccct	18	16	0	0	rs9502564	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000379938.2_Missense_Mutation_p.G783V|RREB1_ENST00000334984.6_Missense_Mutation_p.G783V|RREB1_ENST00000379933.3_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		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)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9	9	9		2348,2348,2348,2348	5.3	1	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	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.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_001003700	0	0	3	5	2	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230680	G	T	7230680	3	4	25	1	0	0	0	0	1	0	0	0	13724	1203	42	3	2374	3	RREB1	6	7230680	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		7230680	163884387	40	4254											
E2F3	1871	broad.mit.edu	37	chr6	20483017	20483017	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtctgtctgaggatggGggcatgctggcccagtgtca	16	9	3	1	rs149378067		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:20483017G>T	ENST00000346618.3	+	4	816	c.750G>T	c.(748-750)ggG>ggT	p.G250G	E2F3_ENST00000535432.1_Silent_p.G119G	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	250	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTGAGGATGGGGGCATGCTGG	0.517																																					p.G250G		.											.	E2F3-414	0			c.G750T						.						76	72	74					6																	20483017		2203	4300	6503	SO:0001819	synonymous_variant	1871	exon4			GGATGGGGGCATG	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.750G>T	6.37:g.20483017G>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	105	5	NM_001949	0	0	7	7	0	Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	CCDS4545.1																																																																																			G|1.000;C|0.000		0.517	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			T	20483017	G	T	20483017	2	4	25	1	0	0	0	0	0	0	0	1	4882	1219	43	3		3	E2F3	6	20483017	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	13252337	20483017	150632050	41	4255											
HIST1H4B	8366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26027447	26027447	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgcttggcacctcccttacCcaaacctttaccgcctttgc	5	18	0	0	rs574251003		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:26027447C>G	ENST00000377364.3	-	1	33	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	12					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)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCCCTTACCCAAACCTTTA	0.532																																					p.G12R		.											.	HIST1H4B-70	0			c.G34C						.						61	57	58					6																	26027447		2203	4300	6503	SO:0001583	missense	8366	exon1			CCTTACCCAAACC	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.34G>C	6.37:g.26027447C>G	ENSP00000366581:p.Gly12Arg	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	117	50	NM_003544	0	0	0	0	0	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	19.61	3.859124	0.71834	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000045	T	0.70369	0.3216	.	.	.	0.44603	D	0.997571	.	.	.	.	.	.	T	0.73007	-0.4118	6	0.56958	D	0.05	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	R	12	.	ENSP00000366581:G12R	G	-	1	0	HIST1H4B	26135426	1.000000	0.71417	0.087000	0.20705	0.002000	0.02628	7.500000	0.81588	2.506000	0.84524	0.563000	0.77884	GGT	.		0.532	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		G	26027447	C	G	26027447	3	3	25	1	0	0	0	0	1	0	0	0	7193	623	22	3	281	3	HIST1H4B	6	26027447	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	5544430	26027447	145087620	42	4256											
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324003	31324025	+	Frame_Shift_Del	DEL	TCGCCCTCCAGGTAGGCTCTCCG	TCGCCCTCCAGGTAGGCTCTCCG	-													tgcggagccactccacgcacTcgccctccaggtaggctctc					rs151341311|rs151341310|rs151341313|rs151341312|rs151341315|rs151341314|rs151341316|rs75202290|rs41558016|rs2523600|rs376871308|rs1050683|rs200488894|rs697742|rs41543920|rs79650563|rs41542712|rs72558118|rs9266141|rs9266144|rs41546113|rs2308466|rs41557818|rs41557117	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	TCGCCCTCCAGGTAGGCTCTCCG	TCGCCCTCCAGGTAGGCTCTCCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:31324003_31324025delTCGCCCTCCAGGTAGGCTCTCCG	ENST00000412585.2	-	3	566_588	c.538_560delCGGAGAGCCTACCTGGAGGGCGA	c.(538-561)cggagagcctacctggagggcgagfs	p.RRAYLEGE180fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	180	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						CTCCACGCACTCGCCCTCCAGGTAGGCTCTCCGCTGCTCCGCC	0.668									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.180_187del		.											.	HLA-B-90	0			c.538_560del						.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	ACGCACTCGCCCT	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.538_560delCGGAGAGCCTACCTGGAGGGCGA	6.37:g.31324003_31324025delTCGCCCTCCAGGTAGGCTCTCCG	ENSP00000399168:p.Arg180fs	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	74	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.668	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31324025	TCGCCCTCCAGGTAGGCTCTCCG	-	31324003	7	5	25	1	0	1	0	1	0	0	0	0	7223	1551	54	0	548	0	HLA-B	6	31324003	Frame_Shift_Del	DEL	TCGCCCTCCAGGTAGGCTCTCCG	TCGA-OR-A5JY-01A-31D-A29I-10	5296556	31324003	139791064	43	4257											
MICA	100507436	broad.mit.edu	37	chr6	31379115	31379115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggcgatatctagaatccGgcgtagtcctgaggagaaca	12	9	1	3	rs1131896	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:31379115G>A	ENST00000449934.2	+	3	646	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TCTAGAATCCGGCGTAGTCCT	0.537													g|||	1730	0.345447	0.2852	0.3501	5008	,	,		20682	0.4216		0.2823	False		,,,				2504	0.41				p.G198S		.											.	.	0			c.G592A						.	G	SER/GLY	379,1005		53,273,366	97	86	89		592	-2.8	0	6	dbSNP_86	89	805,2377		100,605,886	yes	missense	MICA	NM_001177519.1	56	153,878,1252	AA,AG,GG		25.2986,27.3844,25.9308	benign	198/333	31379115	1184,3382	692	1591	2283	SO:0001583	missense	100507436	exon3			GAATCCGGCGTAG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.592G>A	6.37:g.31379115G>A	ENSP00000413079:p.Gly198Ser	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	90	3	NM_001177519	0	1	98	100	1		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	672	0.3076923076923077	143	0.29065040650406504	112	0.30939226519337015	228	0.3986013986013986	189	0.24934036939313983	N	6.785	0.513740	0.12944	0.273844	0.252986	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	T	0.00995	5.46	1.41	-2.82	0.05787	.	3.067170	0.01197	N	0.007461	T	0.00412	0.0013	M	0.67625	2.065	0.80722	P	0.0	B;P	0.34837	0.435;0.472	B;B	0.28553	0.036;0.091	T	0.41161	-0.9524	9	0.62326	D	0.03	.	0.6695	0.00856	0.1927:0.1761:0.3847:0.2464	rs1131896;rs2523494;rs3819266;rs17884174;rs56738748;rs1131896	60;198	Q5SS58;Q96QC4	.;.	S	60;198;155;198	ENSP00000413079:G198S	ENSP00000365394:G198S	G	+	1	0	MICA	31487094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.607000	0.05648	-1.451000	0.01933	-1.206000	0.01644	GGC	G|0.689;A|0.311		0.537	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31379115	G	A	31379115	3	1	25	1	0	0	0	0	1	0	0	0	9606	1116	39	1	602	1	MICA	6	31379115	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	55112	31379115	139735952	44	4258											
LHFPL5	222662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	35773835	35773835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggccacagtctataagatcTgtgcatggatgcagctggct	12	10	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:35773835T>G	ENST00000373853.1	+	1	766	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	LHFPL5_ENST00000360215.1_Missense_Mutation_p.C130G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	130					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTATAAGATCTGTGCATGGAT	0.587																																					p.C130G		.											.	LHFPL5-91	0			c.T388G						.						48	50	49					6																	35773835		2203	4300	6503	SO:0001583	missense	222662	exon1			AAGATCTGTGCAT	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.388T>G	6.37:g.35773835T>G	ENSP00000362960:p.Cys130Gly	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	85	14	NM_182548	0	0	0	0	0	B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344300	0.82022	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.74209	-0.82;-0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89298	0.3624	10	0.62326	D	0.03	-18.8885	15.8533	0.78952	0.0:0.0:0.0:1.0	.	130	Q8TAF8	TMHS_HUMAN	G	130	ENSP00000362960:C130G;ENSP00000353346:C130G	ENSP00000353346:C130G	C	+	1	0	LHFPL5	35881813	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.989000	0.88205	2.146000	0.66826	0.448000	0.29417	TGT	.		0.587	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		G	35773835	T	G	35773835	3	3	25	1	0	0	0	0	1	0	0	0	8797	1580	55	5	390	5	LHFPL5	6	35773835	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	4394720	35773835	135341232	45	4259											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51920447	51920447	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagtaaggacaaggtgtcGaggctgacggaggctgaacc	18	7	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:51920447G>A	ENST00000371117.3	-	19	2049	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R592*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	592					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)					ACAAGGTGTCGAGGCTGACGG	0.562																																					p.R592X		.											.	PKHD1-603	0			c.C1774T	GRCh37	CM051131	PKHD1	M		.						68	63	65					6																	51920447		2203	4300	6503	SO:0001587	stop_gained	5314	exon19			GGTGTCGAGGCTG	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.1774C>T	6.37:g.51920447G>A	ENSP00000360158:p.Arg592*	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	227	73	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	41	8.578065	0.98870	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.53	2.65	0.31530	.	1.020000	0.07836	N	0.962184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	8.8072	0.34945	0.0:0.2379:0.4745:0.2876	.	.	.	.	X	592	.	ENSP00000341097:R592X	R	-	1	2	PKHD1	52028406	0.977000	0.34250	0.992000	0.48379	0.681000	0.39784	1.638000	0.37165	0.326000	0.23384	0.655000	0.94253	CGA	.		0.562	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51920447	G	A	51920447	4	1	25	1	0	0	0	0	0	1	0	0	12010	1066	37	1	10685	1	PKHD1	6	51920447	Nonsense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	16146612	51920447	119194620	46	4260											
RIMS1	22999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	73000415	73000415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttctagaaggggacaCgcagccccaagagcaactga	11	11	2	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:73000415C>T	ENST00000521978.1	+	25	3588	c.3588C>T	c.(3586-3588)caC>caT	p.H1196H	RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1196					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)				GAAGGGGACACGCAGCCCCAA	0.458																																					p.H1196H		.											.	RIMS1-144	0			c.C3588T						.						75	76	75					6																	73000415		1991	4169	6160	SO:0001819	synonymous_variant	22999	exon25			GGGACACGCAGCC	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.3588C>T	6.37:g.73000415C>T		Somatic	149	1		WXS	Illumina GAIIx	Phase_I	236	25	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																			.		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	73000415	C	T	73000415	2	4	25	1	0	0	0	0	0	0	0	1	13412	535	19	1		1	RIMS1	6	73000415	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	21079968	73000415	98114652	47	4261											
TSPYL4	23270	bcgsc.ca	37	chr6	116574989	116574989	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaggatcctgggatgcAcccccctccgcaacggtctc	10	17	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116574989A>T	ENST00000420283.1	-	1	272	c.183T>A	c.(181-183)ggT>ggA	p.G61G	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	61					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCTGGGATGCACCCCCCTCCG	0.687																																					p.G61G		.											.	.	0			c.T183A						.						21	25	23					6																	116574989		2028	4191	6219	SO:0001819	synonymous_variant	23270	exon1			GGATGCACCCCCC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.183T>A	6.37:g.116574989A>T		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	49	10	NM_021648	0	0	8	8	0	B4DYQ2|O94828|Q96GW8	Silent	SNP	ENST00000420283.1	37	CCDS5106.1																																																																																			.		0.687	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			T	116574989	A	T	116574989	2	4	25	1	0	0	0	0	0	0	0	1	16709	146	6	5		5	TSPYL4	6	116574989	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	43574574	116574989	54540078	48	4262											
DSE	29940	bcgsc.ca	37	chr6	116754523	116754523	+	Missense_Mutation	SNP	G	G	A													tagggtttcaaaggactgtgGctattgcggactcaaattac							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116754523G>A	ENST00000331677.3	+	6	1372	c.928G>A	c.(928-930)Gct>Act	p.A310T	DSE_ENST00000359564.2_Missense_Mutation_p.A310T|DSE_ENST00000537543.1_Missense_Mutation_p.A329T|DSE_ENST00000452085.3_Missense_Mutation_p.A310T			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	310					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)		AAGGACTGTGGCTATTGCGGA	0.373																																					p.A310T		.											.	DSE-91	0			c.G928A						.						83	73	76					6																	116754523		1839	3468	5307	SO:0001583	missense	29940	exon5			ACTGTGGCTATTG	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.928G>A	6.37:g.116754523G>A	ENSP00000332151:p.Ala310Thr	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	87	14	NM_001080976	0	0	0	0	0	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174666	0.94807	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.00369	-1.1784	10	0.24483	T	0.36	-16.7862	20.3316	0.98722	0.0:0.0:1.0:0.0	.	329;310	B7Z765;Q9UL01	.;DSE_HUMAN	T	310;329;310;310	ENSP00000404049:A310T;ENSP00000441152:A329T;ENSP00000332151:A310T;ENSP00000352567:A310T	ENSP00000332151:A310T	A	+	1	0	DSE	116861216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.871000	0.98454	0.655000	0.94253	GCT	.		0.373	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		A	116754523	G	A	116754523	3	1	25	1	0	0	0	0	1	0	0	0	4788	1203	42	3	942	3	DSE	6	116754523	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	179534	116754523	54360544	49	4263	31	2									
DSE	29940	bcgsc.ca	37	chr6	116754526	116754526	+	Missense_Mutation	SNP	A	A	T													ggtttcaaaggactgtggctAttgcggactcaaattacaac							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116754526A>T	ENST00000331677.3	+	6	1375	c.931A>T	c.(931-933)Att>Ttt	p.I311F	DSE_ENST00000359564.2_Missense_Mutation_p.I311F|DSE_ENST00000537543.1_Missense_Mutation_p.I330F|DSE_ENST00000452085.3_Missense_Mutation_p.I311F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	311					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)		GACTGTGGCTATTGCGGACTC	0.373																																					p.I311F		.											.	DSE-91	0			c.A931T						.						83	73	77					6																	116754526		1855	3511	5366	SO:0001583	missense	29940	exon5			GTGGCTATTGCGG	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.931A>T	6.37:g.116754526A>T	ENSP00000332151:p.Ile311Phe	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	90	14	NM_001080976	0	0	0	0	0	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381292	0.82792	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.13469	-1.0508	10	0.10636	T	0.68	-21.6546	16.3695	0.83350	1.0:0.0:0.0:0.0	.	330;311	B7Z765;Q9UL01	.;DSE_HUMAN	F	311;330;311;311	ENSP00000404049:I311F;ENSP00000441152:I330F;ENSP00000332151:I311F;ENSP00000352567:I311F	ENSP00000332151:I311F	I	+	1	0	DSE	116861219	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.283000	0.95860	2.315000	0.78130	0.533000	0.62120	ATT	.		0.373	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		T	116754526	A	T	116754526	3	4	25	1	0	0	0	0	1	0	0	0	4788	449	16	5	945	5	DSE	6	116754526	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	3	116754526	54360541	50	4264	31	2									
HECA	51696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	139498189	139498189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccacactgtgggaacctgGactaccacttcgtgaagcca	10	13	0	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:139498189G>A	ENST00000367658.2	+	4	1864	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	527					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TGGGAACCTGGACTACCACTT	0.438																																					p.D527N		.											.	HECA-90	0			c.G1579A						.						104	87	93					6																	139498189		2203	4300	6503	SO:0001583	missense	51696	exon4			AACCTGGACTACC	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1579G>A	6.37:g.139498189G>A	ENSP00000356630:p.Asp527Asn	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	105	32	NM_016217	0	0	7	12	5		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856470	0.91355	.	.	ENSG00000112406	ENST00000367658	.	.	.	6.08	6.08	0.98989	.	0.110402	0.64402	D	0.000010	T	0.73001	0.3531	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.73078	-0.4096	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	527	Q9UBI9	HDC_HUMAN	N	527	.	ENSP00000356630:D527N	D	+	1	0	HECA	139539882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GAC	.		0.438	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		A	139498189	G	A	139498189	3	1	25	1	0	0	0	0	1	0	0	0	7065	1174	41	3	1593	3	HECA	6	139498189	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	22743663	139498189	31616878	51	4265											
TULP4	56995	bcgsc.ca	37	chr6	158870081	158870081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggattgccacggcagAatgctggcccacgtcctctt	11	13	2	1	rs705956	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:158870081A>G	ENST00000367097.3	+	4	1954	c.597A>G	c.(595-597)agA>agG	p.R199R	TULP4_ENST00000367094.2_Silent_p.R199R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	199			R -> S (in dbSNP:rs705956).		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)		GCCACGGCAGAATGCTGGCCC	0.612													G|||	3032	0.605431	0.7844	0.5288	5008	,	,		20217	0.3968		0.5895	False		,,,				2504	0.6493				p.R199R		.											.	TULP4-91	0			c.A597G						.	G	,	3371,1035	381.6+/-324.1	1305,761,137	166	121	136		597,597	3.5	1	6	dbSNP_86	136	5009,3591	519.7+/-379.5	1469,2071,760	no	coding-synonymous,coding-synonymous	TULP4	NM_001007466.1,NM_020245.3	,	2774,2832,897	GG,GA,AA		41.7558,23.4907,35.5682	,	199/679,199/1544	158870081	8380,4626	2203	4300	6503	SO:0001819	synonymous_variant	56995	exon4			CGGCAGAATGCTG		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.597A>G	6.37:g.158870081A>G		Somatic	193	0		WXS	Illumina GAIIx	Phase_I	133	5	NM_020245	0	0	0	0	0	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	CCDS34561.1																																																																																			A|0.374;G|0.626		0.612	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		G	158870081	A	G	158870081	2	3	25	1	0	0	0	0	0	0	0	1	16825	243	9	4		4	TULP4	6	158870081	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	19371892	158870081	12244986	52	4266											
SLC22A3	6581	hgsc.bcm.edu	37	chr6	160769828	160769828	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcggctccccttgtgcCgtgccgcggcggctggcgct	15	18	0	0	rs113898574	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:160769828C>G	ENST00000275300.2	+	1	529	c.377C>G	c.(376-378)cCg>cGg	p.P126R	SLC22A3_ENST00000392145.1_Missense_Mutation_p.P126R	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	126					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCCCTTGTGCCGTGCCGCGGC	0.721													C|||	3	0.000599042	0	0	5008	,	,		11911	0		0.001	False		,,,				2504	0.002				p.P126R		.											.	SLC22A3-517	0			c.C377G						.						4	4	4					6																	160769828		1554	3221	4775	SO:0001583	missense	6581	exon1			TTGTGCCGTGCCG	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.377C>G	6.37:g.160769828C>G	ENSP00000275300:p.Pro126Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_021977	0	0	0	7	7	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	6.819	0.520320	0.13005	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.74526	-0.85;-0.85	4.63	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.421934	0.20996	N	0.081941	T	0.47893	0.1470	L	0.55834	1.745	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.49735	-0.8908	10	0.52906	T	0.07	.	7.9342	0.29920	0.3242:0.5187:0.1571:0.0	.	126	O75751	S22A3_HUMAN	R	126	ENSP00000275300:P126R;ENSP00000375989:P126R	ENSP00000275300:P126R	P	+	2	0	SLC22A3	160689818	0.001000	0.12720	0.002000	0.10522	0.103000	0.19146	1.407000	0.34657	0.358000	0.24211	0.462000	0.41574	CCG	C|0.500;G|0.500		0.721	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		G	160769828	C	G	160769828	3	3	25	1	0	0	0	0	1	0	0	0	14500	652	23	2	379	2	SLC22A3	6	160769828	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1899747	160769828	10345239	53	4267											
SDK1	221935	broad.mit.edu;bcgsc.ca	37	chr7	4153774	4153774	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtggcccaagtcgtcagtGaccggctggagagagaattc	14	10	1	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:4153774G>T	ENST00000404826.2	+	25	3830	c.3691G>T	c.(3691-3693)Gac>Tac	p.D1231Y	SDK1_ENST00000389531.3_Missense_Mutation_p.D1231Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1231	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTCGTCAGTGACCGGCTGGA	0.607																																					p.D1231Y		.											.	SDK1-138	0			c.G3691T						.						61	61	61					7																	4153774		2203	4300	6503	SO:0001583	missense	221935	exon25			GTCAGTGACCGGC	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.3691G>T	7.37:g.4153774G>T	ENSP00000385899:p.Asp1231Tyr	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	255	10	NM_152744	0	0	0	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893240	0.52121	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57436	0.4;0.4	5.38	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066032	0.56097	D	0.000021	T	0.77219	0.4098	M	0.92219	3.285	0.49582	D	0.999802	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.954	T	0.82839	-0.0259	10	0.87932	D	0	.	13.5007	0.61454	0.0746:0.0:0.9254:0.0	.	1231;1231	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Y	1231	ENSP00000385899:D1231Y;ENSP00000374182:D1231Y	ENSP00000374182:D1231Y	D	+	1	0	SDK1	4120300	1.000000	0.71417	0.900000	0.35374	0.878000	0.50629	4.436000	0.59948	2.507000	0.84556	0.655000	0.94253	GAC	.		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4153774	G	T	4153774	3	4	25	1	0	0	0	0	1	0	0	0	14013	1290	45	3	3789	3	SDK1	7	4153774	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		4153774	154984889	54	4268											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5353000	5353000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgggctcgctgctgccggCcgcggggggatagctgccca	17	14	0	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:5353000C>A	ENST00000430969.1	-	27	7870	c.7522G>T	c.(7522-7524)Gcc>Tcc	p.A2508S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2508S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2508							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)		CTGCTGCCGGCCGCGGGGGGA	0.731																																					p.A2508S		.											.	TNRC18-46	0			c.G7522T						.						6	6	6					7																	5353000		1539	3513	5052	SO:0001583	missense	84629	exon27			TGCCGGCCGCGGG	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.7522G>T	7.37:g.5353000C>A	ENSP00000395538:p.Ala2508Ser	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	60	11	NM_001080495	0	0	9	9	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.011|0.011	-1.729360|-1.729360	0.00687|0.00687	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.11495|.	2.77;2.77|.	4.83|4.83	-0.356|-0.356	0.12583|0.12583	.|.	1.068350|.	0.07468|.	N|.	0.901853|.	T|T	0.28962|0.28962	0.0719|0.0719	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.09084|.	T|.	0.74|.	.|.	9.2924|9.2924	0.37795|0.37795	0.0:0.3336:0.0:0.6664|0.0:0.3336:0.0:0.6664	.|.	2508|.	O15417|.	TNC18_HUMAN|.	S|V	2508|321	ENSP00000382452:A2508S;ENSP00000395538:A2508S|.	ENSP00000382452:A2508S|.	A|G	-|-	1|2	0|0	TNRC18|TNRC18	5319526|5319526	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.373000|-0.373000	0.07494|0.07494	-0.142000|-0.142000	0.11354|0.11354	-0.997000|-0.997000	0.02515|0.02515	GCC|GGC	.		0.731	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5353000	C	A	5353000	3	1	25	1	0	0	0	0	1	0	0	0	16386	739	26	3	1400	3	TNRC18	7	5353000	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1199226	5353000	153785663	55	4269											
TNS3	64759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	47408816	47408816	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcgtcatccagaatgTctgtctcccgatccttcaga	7	14	5	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:47408816T>A	ENST00000398879.1	-	17	1793	c.1427A>T	c.(1426-1428)gAc>gTc	p.D476V	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.D476V			Q68CZ2	TENS3_HUMAN	tensin 3	476					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						ATCCAGAATGTCTGTCTCCCG	0.612																																					p.D476V		.											.	TNS3-94	0			c.A1427T						.						59	65	63					7																	47408816		2163	4246	6409	SO:0001583	missense	64759	exon17			AGAATGTCTGTCT	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.1427A>T	7.37:g.47408816T>A	ENSP00000381854:p.Asp476Val	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	205	38	NM_022748	0	0	1	1	0	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145525	0.77888	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718	D;D;D	0.96554	-3.88;-3.88;-4.05	5.45	5.45	0.79879	.	0.387944	0.26995	N	0.021441	D	0.97742	0.9259	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97634	1.0144	10	0.41790	T	0.15	-44.6165	13.4354	0.61082	0.0:0.0:0.0:1.0	.	476	Q68CZ2	TENS3_HUMAN	V	476;586;476;579	ENSP00000312143:D476V;ENSP00000381854:D476V;ENSP00000414358:D579V	ENSP00000312143:D476V	D	-	2	0	TNS3	47375341	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	6.134000	0.71689	2.056000	0.61249	0.533000	0.62120	GAC	.		0.612	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47408816	T	A	47408816	3	1	25	1	0	0	0	0	1	0	0	0	16391	1667	58	5	2970	5	TNS3	7	47408816	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	42055816	47408816	111729847	56	4270											
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	142567581	142567581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctcagggcccaagttgTttgcttcgctgggcagcccc	11	16	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:142567581T>C	ENST00000392957.2	+	17	3256	c.2469T>C	c.(2467-2469)tgT>tgC	p.C823C	EPHB6_ENST00000411471.2_Silent_p.C546C|EPHB6_ENST00000442129.1_Silent_p.C823C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCAAGTTGTTTGCTTCGCT	0.448																																					p.C823C		.											.	EPHB6-1489	0			c.T2469C						.						87	78	81					7																	142567581		2203	4300	6503	SO:0001819	synonymous_variant	2051	exon17			AAGTTGTTTGCTT	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2469T>C	7.37:g.142567581T>C		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	120	12	NM_004445	0	0	0	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																			.		0.448	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			C	142567581	T	C	142567581	2	2	25	1	0	0	0	0	0	0	0	1	5194	1731	60	4		4	EPHB6	7	142567581	Silent	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	95158765	142567581	16571082	57	4271											
NOS3	4846	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	150704089	150704089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggggccctgggcaccCtcaggtcagggcctcaccaa	14	15	3	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:150704089C>G	ENST00000297494.3	+	16	2290	c.1933C>G	c.(1933-1935)Ctc>Gtc	p.L645V	NOS3_ENST00000461406.1_Missense_Mutation_p.L439V	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)		CCTGGGCACCCTCAGGTCAGG	0.642																																					p.L645V		.											.	NOS3-1011	0			c.C1933G						.						79	79	79					7																	150704089		2203	4300	6503	SO:0001583	missense	4846	exon16			GGCACCCTCAGGT		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.1933C>G	7.37:g.150704089C>G	ENSP00000297494:p.Leu645Val	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	176	20	NM_000603	0	0	0	0	0	Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704610	0.03255	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.71341	-0.56;-0.56	4.94	4.04	0.47022	Flavodoxin/nitric oxide synthase (2);	0.000000	0.52532	D	0.000065	T	0.40222	0.1108	N	0.02665	-0.54	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.003	T	0.42344	-0.9457	10	0.02654	T	1	-24.5031	12.6374	0.56690	0.167:0.833:0.0:0.0	.	439;645	E7ESA7;P29474	.;NOS3_HUMAN	V	645;439	ENSP00000297494:L645V;ENSP00000417143:L439V	ENSP00000297494:L645V	L	+	1	0	NOS3	150335022	0.968000	0.33430	1.000000	0.80357	0.600000	0.36913	1.942000	0.40243	1.189000	0.43028	0.505000	0.49811	CTC	.		0.642	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		G	150704089	C	G	150704089	3	3	25	1	0	0	0	0	1	0	0	0	10583	681	24	3	2273	3	NOS3	7	150704089	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	8136508	150704089	8434574	58	4272											
MYOM2	9172	ucsc.edu;bcgsc.ca	37	chr8	2037833	2037833	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtttctctttgtagtcGgtggtggggagcggcagctg	16	7	2	0	rs2294061	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:2037833G>C	ENST00000262113.4	+	15	1788	c.1647G>C	c.(1645-1647)tcG>tcC	p.S549S	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	549	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTTGTAGTCGGTGGTGGGGA	0.557													C|||	1122	0.224042	0.4244	0.1628	5008	,	,		18049	0.2083		0.162	False		,,,				2504	0.0767				p.S549S		.											.	MYOM2-95	0			c.G1647C						.	C		1674,2732	650.5+/-399.1	321,1032,850	64	65	65		1647	-5.2	0	8	dbSNP_100	65	1257,7343	756.6+/-407.5	92,1073,3135	no	coding-synonymous	MYOM2	NM_003970.2		413,2105,3985	CC,CG,GG		14.6163,37.9936,22.5358		549/1466	2037833	2931,10075	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon15			GTAGTCGGTGGTG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1647G>C	8.37:g.2037833G>C		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	18	4	NM_003970	0	0	0	0	0	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			G|0.783;C|0.217		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2037833	G	C	2037833	2	2	25	1	0	0	0	0	0	0	0	1	10130	1103	39	2		2	MYOM2	8	2037833	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		2037833	144326189	59	4273											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	10	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	25	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	6522703	8560536	137803486	60	4274											
FDFT1	2222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	11689040	11689040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctaggtgatggccattgCcactttggctgcctgttata	10	10	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:11689040C>T	ENST00000220584.4	+	7	1115	c.893C>T	c.(892-894)gCc>gTc	p.A298V	FDFT1_ENST00000528643.1_Missense_Mutation_p.A213V|FDFT1_ENST00000538689.1_Missense_Mutation_p.A187V|FDFT1_ENST00000525900.1_Missense_Mutation_p.A291V|FDFT1_ENST00000525777.1_Missense_Mutation_p.A213V|FDFT1_ENST00000443614.2_Missense_Mutation_p.A255V|FDFT1_ENST00000530664.1_Missense_Mutation_p.A234V|FDFT1_ENST00000528812.1_Missense_Mutation_p.A234V|FDFT1_ENST00000446331.2_3'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	298					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATGGCCATTGCCACTTTGGCT	0.433																																					p.A298V		.											.	FDFT1-90	0			c.C893T						.						156	144	148					8																	11689040		2203	4300	6503	SO:0001583	missense	2222	exon7			CCATTGCCACTTT	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.893C>T	8.37:g.11689040C>T	ENSP00000220584:p.Ala298Val	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	272	155	NM_004462	0	2	337	1112	773	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978747	0.74360	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	6.07	5.19	0.71726	Terpenoid synthase (2);	0.052610	0.85682	D	0.000000	D	0.86924	0.6050	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;1.0;0.998;0.999	P;P;D;P;D	0.63381	0.841;0.859;0.914;0.756;0.914	D	0.89972	0.4094	10	0.54805	T	0.06	-20.3368	15.891	0.79299	0.1363:0.8637:0.0:0.0	.	131;255;355;291;298	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	V	187;298;255;291;234;234;213;213	ENSP00000444248:A187V;ENSP00000220584:A298V;ENSP00000390367:A255V;ENSP00000434714:A291V;ENSP00000431749:A234V;ENSP00000432331:A234V;ENSP00000431649:A213V;ENSP00000436069:A213V	ENSP00000220584:A298V	A	+	2	0	FDFT1	11726449	1.000000	0.71417	0.483000	0.27378	0.154000	0.21943	7.588000	0.82629	1.557000	0.49525	-0.182000	0.12963	GCC	.		0.433	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			T	11689040	C	T	11689040	3	4	25	1	0	0	0	0	1	0	0	0	5824	739	26	3	919	3	FDFT1	8	11689040	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	3128504	11689040	134674982	61	4275											
PAG1	55824	bcgsc.ca	37	chr8	81905397	81905397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaaaatggcgacagcAgccagacttccccacagggt	11	12	0	2	rs2016465	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:81905397A>G	ENST00000220597.4	-	4	776	c.66T>C	c.(64-66)gcT>gcC	p.A22A		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	22					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGGCGACAGCAGCCAGACTTC	0.567													G|||	2624	0.523962	0.8487	0.3156	5008	,	,		18022	0.5268		0.326	False		,,,				2504	0.4335				p.A22A		.											.	.	0			c.T66C						.	G		3250,1156	410.4+/-335.4	1214,822,167	81	75	77		66	-10.7	0	8	dbSNP_92	77	2778,5822	678.6+/-403.5	439,1900,1961	no	coding-synonymous	PAG1	NM_018440.3		1653,2722,2128	GG,GA,AA		32.3023,26.2369,46.3478		22/433	81905397	6028,6978	2203	4300	6503	SO:0001819	synonymous_variant	55824	exon4			GACAGCAGCCAGA	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.66T>C	8.37:g.81905397A>G		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	80	5	NM_018440	0	0	0	0	0	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																			A|0.513;G|0.487		0.567	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		G	81905397	A	G	81905397	2	3	25	1	0	0	0	0	0	0	0	1	11427	175	7	4		4	PAG1	8	81905397	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	70216357	81905397	64458625	62	4276											
SLC10A5	347051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	82606283	82606283	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaacattaaaataaaactcaGaggtctaattattctctcta	4	7	4	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:82606283G>C	ENST00000518568.1	-	1	2126	c.925C>G	c.(925-927)Ctg>Gtg	p.L309V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	309						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATAAAACTCAGAGGTCTAATT	0.343																																					p.L309V		.											.	SLC10A5-90	0			c.C925G						.						48	50	50					8																	82606283		2203	4300	6503	SO:0001583	missense	347051	exon1			AACTCAGAGGTCT		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.925C>G	8.37:g.82606283G>C	ENSP00000428612:p.Leu309Val	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	39	16	NM_001010893	0	0	0	0	0	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089407	0.36855	.	.	ENSG00000253598	ENST00000518568	T	0.12361	2.69	5.91	0.241	0.15494	.	0.161393	0.28847	N	0.013959	T	0.08088	0.0202	L	0.28776	0.89	0.28145	N	0.929642	P	0.43578	0.811	P	0.45660	0.489	T	0.16482	-1.0401	10	0.07482	T	0.82	-8.9032	2.6871	0.05110	0.3605:0.0:0.2977:0.3418	.	309	Q5PT55	NTCP5_HUMAN	V	309	ENSP00000428612:L309V	ENSP00000428612:L309V	L	-	1	2	SLC10A5	82768838	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	1.843000	0.39259	0.101000	0.17610	0.585000	0.79938	CTG	.		0.343	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		C	82606283	G	C	82606283	3	2	25	1	0	0	0	0	1	0	0	0	14422	933	33	3	393	3	SLC10A5	8	82606283	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	700886	82606283	63757739	63	4277											
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	106814462	106814462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctacacgccacgaccctccaCtgaagaggtctgcttccaac	7	17	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:106814462C>G	ENST00000407775.2	+	8	2402	c.2152C>G	c.(2152-2154)Ctg>Gtg	p.L718V	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L449V|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L586V|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L586V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	718					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CGACCCTCCACTGAAGAGGTC	0.498																																					p.L718V		.											.	ZFPM2-139	0			c.C2152G						.						53	52	52					8																	106814462		2075	4209	6284	SO:0001583	missense	23414	exon8			CCTCCACTGAAGA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2152C>G	8.37:g.106814462C>G	ENSP00000384179:p.Leu718Val	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	137	67	NM_012082	0	0	1	1	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666934	0.29604	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19669	2.13;2.62;2.62;3.82	5.72	5.72	0.89469	.	0.051609	0.85682	D	0.000000	T	0.17323	0.0416	L	0.52573	1.65	0.45733	D	0.998631	P	0.40083	0.702	B	0.30782	0.12	T	0.03086	-1.1074	10	0.26408	T	0.33	.	13.1265	0.59358	0.0:0.927:0.0:0.073	.	718	Q8WW38	FOG2_HUMAN	V	718;586;586;449	ENSP00000384179:L718V;ENSP00000430757:L586V;ENSP00000428720:L586V;ENSP00000367733:L449V	ENSP00000367733:L449V	L	+	1	2	ZFPM2	106883638	0.993000	0.37304	0.624000	0.29186	0.960000	0.62799	3.098000	0.50259	2.708000	0.92522	0.561000	0.74099	CTG	.		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106814462	C	G	106814462	3	3	25	1	0	0	0	0	1	0	0	0	17706	564	20	3	2182	3	ZFPM2	8	106814462	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	24208179	106814462	39549560	64	4278											
PKHD1L1	93035	bcgsc.ca	37	chr8	110448635	110448635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtattagttggaaatgaaAcctgcaatgtgattgaaggg	13	3	0	3	rs10093885	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:110448635A>G	ENST00000378402.5	+	30	3678	c.3574A>G	c.(3574-3576)Acc>Gcc	p.T1192A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1192	IPT/TIG 5.		T -> A (in dbSNP:rs10093885).		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)			TGGAAATGAAACCTGCAATGT	0.363										HNSCC(38;0.096)			A|||	1095	0.21865	0.3502	0.1542	5008	,	,		17494	0.002		0.2058	False		,,,				2504	0.3231				p.T1192A		.											.	PKHD1L1-145	0			c.A3574G						.	A	ALA/THR	1156,2542		197,762,890	107	109	108		3574	2.9	1	8	dbSNP_119	108	1758,6452		185,1388,2532	yes	missense	PKHD1L1	NM_177531.4	58	382,2150,3422	GG,GA,AA		21.4129,31.2601,24.4709	benign	1192/4244	110448635	2914,8994	1849	4105	5954	SO:0001583	missense	93035	exon30			AATGAAACCTGCA	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.3574A>G	8.37:g.110448635A>G	ENSP00000367655:p.Thr1192Ala	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	87	4	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	365	0.1671245421245421	144	0.2926829268292683	67	0.1850828729281768	1	0.0017482517482517483	153	0.20184696569920843	A	6.168	0.399236	0.11696	0.312601	0.214129	ENSG00000205038	ENST00000378402	T	0.75260	-0.92	5.44	2.94	0.34122	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.799156	0.11566	N	0.551296	T	0.00012	0.0000	L	0.37750	1.13	0.49915	P	1.64000000000053E-4	B	0.14012	0.009	B	0.18561	0.022	T	0.08889	-1.0700	9	0.07990	T	0.79	.	8.0511	0.30579	0.6885:0.0:0.0:0.3115	rs10093885;rs52794058;rs58325250;rs10093885	1192	Q86WI1	PKHL1_HUMAN	A	1192	ENSP00000367655:T1192A	ENSP00000367655:T1192A	T	+	1	0	PKHD1L1	110517811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.811000	0.38942	0.314000	0.23086	0.533000	0.62120	ACC	A|0.801;G|0.199		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		G	110448635	A	G	110448635	3	3	25	1	0	0	0	0	1	0	0	0	12011	43	2	4	3692	4	PKHD1L1	8	110448635	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	3634173	110448635	35915387	65	4279											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000436759.2_Silent_p.A2003A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_201380	0	0	0	4	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	25	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	34549534	144998169	1365853	66	4280			1	17		2	2	22	N	C_A	9.835835e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000436759.2_Silent_p.A1996A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	25	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	21	144998190	1365832	67	4281			1	17		2	2	22	N	C_A	9.835835e-05
SCRT1	83482	hgsc.bcm.edu	37	chr8	145557497	145557497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagggagcggcggcagAgccggcattggaagccttac	18	9	0	1	rs7013127	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:145557497A>C	ENST00000332135.4	-	2	508	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	133			S -> A (in dbSNP:rs7013127). {ECO:0000269|Ref.2}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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)|upper_aerodigestive_tract(1)	3	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;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGCGGCAGAGCCGGCATTG	0.776													c|||	4719	0.942292	0.9418	0.9568	5008	,	,		3920	0.9921		0.8956	False		,,,				2504	0.9294				p.S133A		.											.	.	0			c.T397G						.						1	1	1					8																	145557497		634	1472	2106	SO:0001583	missense	83482	exon2			CGGCAGAGCCGGC	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.397T>G	8.37:g.145557497A>C	ENSP00000331692:p.Ser133Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_031309	0	0	0	0	0	A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	CCDS6421.1	1975	0.9043040293040293	396	0.8048780487804879	339	0.93646408839779	552	0.965034965034965	688	0.9076517150395779	c	0.007	-1.995963	0.00435	.	.	ENSG00000170616	ENST00000332135	T	0.06933	3.24	0.926	-0.0566	0.13805	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.05525	T	0.97	5.8842	6.2142	0.20646	0.3034:0.6966:0.0:0.0	rs7013127	133	Q9BWW7	SCRT1_HUMAN	A	133	ENSP00000331692:S133A	ENSP00000331692:S133A	S	-	1	0	SCRT1	145528305	.	.	0.675000	0.29917	0.381000	0.30169	.	.	-1.712000	0.01393	-3.289000	0.00047	TCT	A|0.096;C|0.904		0.776	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		C	145557497	A	C	145557497	3	2	25	1	0	0	0	0	1	0	0	0	13986	304	11	5	653	5	SCRT1	8	145557497	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	559307	145557497	806525	68	4282											
RGP1	692094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35752652	35752652	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcttccatagtgtcCttgaagtggagattgcattt	8	7	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:35752652C>A	ENST00000436428.2	-	0	670				RGP1_ENST00000456972.2_Silent_p.S359S|RGP1_ENST00000378078.4_Silent_p.S319S|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CCATAGTGTCCTTGAAGTGGA	0.443																																					p.S319S		.											.	RGP1-23	0			c.C957A						.						80	67	71					9																	35752652		1897	4122	6019	SO:0001628	intergenic_variant	9827	exon9			AGTGTCCTTGAAG	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752652C>A		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	144	41	NM_001080496	0	0	0	0	0		Silent	SNP	ENST00000436428.2	37	CCDS43797.1																																																																																			.		0.443	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		A	35752652	C	A	35752652	1	1	25	0	1	0	0	0	0	0	0	0	13329	668	24	3		3	RGP1	9	35752652	IGR	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		35752652	105460779	69	4283											
SLC28A3	64078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	86920229	86920229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgtttcctacagaaacCacatactgtgtcatacctcc	5	12	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:86920229C>T	ENST00000376238.4	-	4	323	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G23S|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	92					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CTACAGAAACCACATACTGTG	0.393																																					p.G92S	Ovarian(106;425 1539 34835 42413 43572)	.											.	SLC28A3-94	0			c.G274A						.						148	133	138					9																	86920229		2203	4300	6503	SO:0001583	missense	64078	exon4			AGAAACCACATAC	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.274G>A	9.37:g.86920229C>T	ENSP00000365413:p.Gly92Ser	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	89	32	NM_001199633	0	0	0	0	0	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195872	0.06259	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.76448	-1.02;-1.02	5.49	4.59	0.56863	.	0.742560	0.13615	N	0.374848	T	0.43010	0.1228	N	0.01352	-0.895	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.06405	0.001;0.002	T	0.45145	-0.9281	10	0.05351	T	0.99	-3.818	4.8823	0.13686	0.1514:0.6209:0.1467:0.0811	.	23;92	B4E2S8;Q9HAS3	.;S28A3_HUMAN	S	92;23	ENSP00000365413:G92S;ENSP00000446438:G23S	ENSP00000365413:G92S	G	-	1	0	SLC28A3	86110049	0.009000	0.17119	0.017000	0.16124	0.171000	0.22731	1.068000	0.30629	1.435000	0.47434	0.655000	0.94253	GGT	.		0.393	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		T	86920229	C	T	86920229	3	4	25	1	0	0	0	0	1	0	0	0	14578	594	21	3	1861	3	SLC28A3	9	86920229	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	51167577	86920229	54293202	70	4284											
ASPN	54829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	95233050	95233050	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaaatggaatgttggttggGactgaggtcaaaccttagaa	12	5	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:95233050G>T	ENST00000375544.3	-	3	531	c.288C>A	c.(286-288)gtC>gtA	p.V96V	ASPN_ENST00000375543.1_Silent_p.V96V|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Silent_p.V68V|ASPN_ENST00000395538.3_Silent_p.V96V	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	96	LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTTGGTTGGGACTGAGGTCA	0.284																																					p.V96V		.											.	ASPN-514	0			c.C288A						.						77	82	80					9																	95233050		2200	4289	6489	SO:0001819	synonymous_variant	54829	exon3			GGTTGGGACTGAG	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.288C>A	9.37:g.95233050G>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	98	36	NM_001193335	0	0	8	8	0	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37																																																																																				.		0.284	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		T	95233050	G	T	95233050	2	4	25	1	0	0	0	0	0	0	0	1	1058	1161	41	3		3	ASPN	9	95233050	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	8312821	95233050	45980381	71	4285											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	114246951	114246951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagataccctatgttcTtttcggtaactagagtgatt	8	7	2	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:114246951T>C	ENST00000259335.4	-	1	74	c.75A>G	c.(73-75)aaA>aaG	p.K25K	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					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						CCCTATGTTCTTTTCGGTAAC	0.373																																					p.K25K		.											.	KIAA0368-68	0			c.A75G						.						233	225	228					9																	114246951		1880	4119	5999	SO:0001819	synonymous_variant	23392	exon1			ATGTTCTTTTCGG	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	ENST00000259335.4:c.75A>G	9.37:g.114246951T>C		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	64	12	NM_001080398	0	0	0	0	0	O15074|Q8WU82	Silent	SNP	ENST00000259335.4	37	CCDS48006.1																																																																																			.		0.373	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686		C	114246951	T	C	114246951	2	2	25	1	0	0	0	0	0	0	0	1	8198	1606	56	4		4	KIAA0368	9	114246951	Silent	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	19013901	114246951	26966480	72	4286											
RNF183	138065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	116060043	116060043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggatgaggatgggcGtagacacggtggcagaggcc	21	7	0	3	rs146147048		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:116060043G>A	ENST00000478815.1	-	1	2002	c.422C>T	c.(421-423)aCg>aTg	p.T141M	RNF183_ENST00000441031.3_Missense_Mutation_p.T141M|RNF183_ENST00000297894.5_Missense_Mutation_p.T141M|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000416588.2_Missense_Mutation_p.T141M			Q96D59	RN183_HUMAN	ring finger protein 183	141						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						GAGGATGGGCGTAGACACGGT	0.627													G|||	1	0.000199681	0	0	5008	,	,		16661	0		0.001	False		,,,				2504	0				p.T141M		.											.	RNF183-90	0			c.C422T						.	G	MET/THR	0,4012		0,0,2006	58	64	62		422	-7.1	0	9	dbSNP_134	62	7,8313		0,7,4153	yes	missense	RNF183	NM_145051.3	81	0,7,6159	AA,AG,GG		0.0841,0.0,0.0568	benign	141/193	116060043	7,12325	2006	4160	6166	SO:0001583	missense	138065	exon2			ATGGGCGTAGACA		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"RING-type (C3HC4) zinc fingers"	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.422C>T	9.37:g.116060043G>A	ENSP00000419454:p.Thr141Met	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	171	33	NM_145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000478815.1	37	CCDS43866.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.156	-0.393418	0.04899	0.0	8.41E-4	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.52	-7.1	0.01547	.	2.171280	0.01874	N	0.037437	T	0.07234	0.0183	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.46703	T	0.11	-9.7474	7.4491	0.27227	0.3655:0.4709:0.1636:0.0	.	141	Q96D59	RN183_HUMAN	M	141	ENSP00000417176:T141M;ENSP00000420740:T141M;ENSP00000419454:T141M;ENSP00000417943:T141M	ENSP00000417943:T141M	T	-	2	0	RNF183	115099864	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.531000	0.06171	-1.479000	0.01867	-1.199000	0.01669	ACG	G|0.999;A|0.000		0.627	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		A	116060043	G	A	116060043	3	1	25	1	0	0	0	0	1	0	0	0	13512	1145	40	1	160	1	RNF183	9	116060043	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	1813092	116060043	25153388	73	4287											
CACNA1B	774	broad.mit.edu	37	chr9	140953592	140953592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctgaacatcgtgttcacatCcatgttctccatggaatgcg	8	12	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:140953592C>G	ENST00000371372.1	+	30	4680	c.4535C>G	c.(4534-4536)tCc>tGc	p.S1512C	CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1512C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1513C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1513C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S708C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1512C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1512					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTTCACATCCATGTTCTCC	0.507																																					p.S1512C		.											.	CACNA1B-138	0			c.C4535G						.						142	135	137					9																	140953592		2154	4242	6396	SO:0001583	missense	774	exon30			TCACATCCATGTT	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4535C>G	9.37:g.140953592C>G	ENSP00000360423:p.Ser1512Cys	Somatic	426	0		WXS	Illumina GAIIx	Phase_I	303	7	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424709	0.83667	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.46	5.46	0.80206	.	0.303340	0.37304	N	0.002159	D	0.98005	0.9343	L	0.41906	1.305	0.49299	D	0.999776	D;B;B	0.57571	0.98;0.105;0.105	P;B;B	0.58928	0.848;0.064;0.064	D	0.98395	1.0565	10	0.51188	T	0.08	.	19.7249	0.96160	0.0:1.0:0.0:0.0	.	1512;1513;1512	B1AQK4;B1AQK7;B1AQK6	.;.;.	C	1512;1512;708;1512;1513;1513	ENSP00000360423:S1512C;ENSP00000277551:S1512C;ENSP00000277549:S708C;ENSP00000360414:S1512C;ENSP00000360408:S1513C;ENSP00000360406:S1513C	ENSP00000277549:S708C	S	+	2	0	CACNA1B	140073413	0.867000	0.29959	0.997000	0.53966	0.989000	0.77384	2.043000	0.41231	2.746000	0.94184	0.644000	0.83932	TCC	.		0.507	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		G	140953592	C	G	140953592	3	3	25	1	0	0	0	0	1	0	0	0	2546	855	30	3	4653	3	CACNA1B	9	140953592	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	24893549	140953592	259839	74	4288											
TAF5	6877	hgsc.bcm.edu	37	chr10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggcagtggcgggcTccggagccccgggagaggtg	22	9	0	1	rs10883859	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3	5	4		388	1.9	1	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_006951	0	0	0	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105128134	T	G	105128134	3	3	25	1	0	0	0	0	1	0	0	0	15575	1551	54	5	390	5	TAF5	10	105128134	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10		105128134	30406613	75	4289											
OR51B2	79345	bcgsc.ca	37	chr11	5344681	5344681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgacagggttcattaaagGaggaaagaggaagtagatgt	15	2	1	3	rs11036815	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:5344681G>A	ENST00000328813.2	-	1	901	c.847C>T	c.(847-849)Cct>Tct	p.P283S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	283			P -> S (in dbSNP:rs11036815).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATTAAAGGAGGAAAGAGG	0.373													G|||	1326	0.264776	0.2897	0.2954	5008	,	,		21267	0.2173		0.2853	False		,,,				2504	0.2372				p.P283S		.											.	OR51B2-71	0			c.C847T						.	G	SER/PRO	1323,3079	443.3+/-347.0	190,943,1068	113	106	108		847	4.4	0.8	11	dbSNP_120	108	2469,6125	405.5+/-348.5	336,1797,2164	yes	missense	OR51B2	NM_033180.4	74	526,2740,3232	AA,AG,GG		28.7293,30.0545,29.1782	probably-damaging	283/313	5344681	3792,9204	2201	4297	6498	SO:0001583	missense	79345	exon1			TTAAAGGAGGAAA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.847C>T	11.37:g.5344681G>A	ENSP00000327540:p.Pro283Ser	Somatic	289	1		WXS	Illumina GAIIx	Phase_I	136	8	NM_033180	0	0	0	0	0	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	578	0.26465201465201466	159	0.3231707317073171	102	0.281767955801105	116	0.20279720279720279	201	0.26517150395778366	G	21.5	4.162103	0.78226	0.300545	0.287293	ENSG00000184881	ENST00000328813	T	0.00330	8.08	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001747	T	0.00012	0.0000	M	0.89214	3.015	0.26462	P	0.9754303	D	0.89917	1.0	D	0.97110	1.0	T	0.60712	-0.7209	9	0.72032	D	0.01	.	15.8595	0.79012	0.0:0.0:1.0:0.0	rs11036815;rs52816306;rs60406440;rs11036815	283	Q9Y5P1	O51B2_HUMAN	S	283	ENSP00000327540:P283S	ENSP00000327540:P283S	P	-	1	0	OR51B2	5301257	0.997000	0.39634	0.805000	0.32314	0.987000	0.75469	2.460000	0.45031	2.306000	0.77630	0.638000	0.83543	CCT	G|0.719;A|0.281		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		A	5344681	G	A	5344681	3	1	25	1	0	0	0	0	1	0	0	0	11128	1174	41	3	95	3	OR51B2	11	5344681	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		5344681	129661835	76	4290											
CCDC88B	283234	hgsc.bcm.edu	37	chr11	64116890	64116890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcaggcggctctcgagCgccaggaatttctgcgagaa	15	10	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:64116890C>A	ENST00000356786.5	+	15	2748	c.2704C>A	c.(2704-2706)Cgc>Agc	p.R902S	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R54S	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	902						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCTCGAGCGCCAGGAATT	0.642																																					p.R902S		.											.	CCDC88B-94	0			c.C2704A						.						22	26	25					11																	64116890		2201	4297	6498	SO:0001583	missense	283234	exon15			CTCGAGCGCCAGG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2704C>A	11.37:g.64116890C>A	ENSP00000349238:p.Arg902Ser	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_032251	0	0	4	4	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	15.57	2.871311	0.51695	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.55234	1.68;0.53	3.68	2.75	0.32379	.	.	.	.	.	T	0.60971	0.2310	M	0.61703	1.905	0.80722	D	1	P;D;P;P	0.67145	0.954;0.996;0.761;0.954	P;D;B;P	0.63381	0.573;0.914;0.34;0.573	T	0.61038	-0.7143	9	0.49607	T	0.09	.	6.1537	0.20326	0.0:0.8624:0.0:0.1376	.	902;38;551;902	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	S	902;902;54	ENSP00000349238:R902S;ENSP00000352974:R54S	ENSP00000349238:R902S	R	+	1	0	CCDC88B	63873466	0.663000	0.27448	0.874000	0.34290	0.405000	0.30901	0.749000	0.26320	2.031000	0.59945	0.539000	0.68188	CGC	.		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64116890	C	A	64116890	3	1	25	1	0	0	0	0	1	0	0	0	2871	768	27	2	2762	2	CCDC88B	11	64116890	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	58772209	64116890	70889626	77	4291											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	25	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1662700	65779590	69226926	78	4292											
ADRBK1	156	broad.mit.edu;ucsc.edu	37	chr11	67046987	67046987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagctgctggcctgctcGcatgtgagtgtcctcagctg	14	11	1	1	rs112675049	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:67046987G>A	ENST00000308595.5	+	4	653	c.363G>A	c.(361-363)tcG>tcA	p.S121S	ADRBK1_ENST00000526285.1_Silent_p.S121S	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	121	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)	TGGCCTGCTCGCATGTGAGTG	0.587																																					p.S121S		.											.	ADRBK1-521	0			c.G363A						.	G		0,4398		0,0,2199	62	54	57		363	-10.8	0.1	11	dbSNP_132	57	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	ADRBK1	NM_001619.3		0,2,6492	AA,AG,GG		0.0233,0.0,0.0154		121/690	67046987	2,12986	2199	4295	6494	SO:0001819	synonymous_variant	156	exon4			CTGCTCGCATGTG	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.363G>A	11.37:g.67046987G>A		Somatic	81	1		WXS	Illumina GAIIx	Phase_I	84	9	NM_001619	0	0	0	0	0	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																			G|1.000;A|0.000		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		A	67046987	G	A	67046987	2	1	25	1	0	0	0	0	0	0	0	1	343	1074	38	1		1	ADRBK1	11	67046987	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	1267397	67046987	67959529	79	4293											
FGF19	9965	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	69514323	69514323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctcctcgaaagcacAgtcttcctccgagtactgaa	7	14	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:69514323A>C	ENST00000294312.3	-	3	1123	c.358T>G	c.(358-360)Tgt>Ggt	p.C120G		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	120					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)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCGAAAGCACAGTCTTCCTCC	0.572																																					p.C120G		.											.	FGF19-658	0			c.T358G						.						44	41	42					11																	69514323		2200	4294	6494	SO:0001583	missense	9965	exon3			AAGCACAGTCTTC	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.358T>G	11.37:g.69514323A>C	ENSP00000294312:p.Cys120Gly	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	114	11	NM_005117	0	0	0	0	0		Missense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302605	0.81136	.	.	ENSG00000162344	ENST00000294312	D	0.96830	-4.14	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-14.254	14.5105	0.67784	1.0:0.0:0.0:0.0	.	120	O95750	FGF19_HUMAN	G	120	ENSP00000294312:C120G	ENSP00000294312:C120G	C	-	1	0	FGF19	69223504	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.400000	0.73252	1.840000	0.53500	0.454000	0.30748	TGT	.		0.572	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		C	69514323	A	C	69514323	3	2	25	1	0	0	0	0	1	0	0	0	5869	188	7	5	296	5	FGF19	11	69514323	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	2467336	69514323	65492193	80	4294											
ARHGEF17	9828	hgsc.bcm.edu	37	chr11	73020058	73020058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgaggagcctggcccagCgtcaccgagatgcgcaagct	15	14	1	1	rs12272360	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:73020058C>T	ENST00000263674.3	+	1	725	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	125					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTGGCCCAGCGTCACCGAGA	0.736													c|||	455	0.0908546	0.2141	0.062	5008	,	,		11497	0.002		0.0964	False		,,,				2504	0.0307				p.S125S		.											.	ARHGEF17-227	0			c.C375T						.		,	414,2368		29,356,1006	3	2	3		375,333	2.8	1	11	dbSNP_120	3	395,5105		17,361,2372	no	coding-synonymous,coding-synonymous	ARHGEF17,LOC100287837	NM_014786.3,XM_002343116.2	,	46,717,3378	TT,TC,CC		7.1818,14.8814,9.7682	,	125/2064,111/450	73020058	809,7473	1391	2750	4141	SO:0001819	synonymous_variant	9828	exon1			GCCCAGCGTCACC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.375C>T	11.37:g.73020058C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_014786	0	0	0	1	1	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																			C|0.906;T|0.094		0.736	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73020058	C	T	73020058	2	4	25	1	0	0	0	0	0	0	0	1	900	767	27	1		1	ARHGEF17	11	73020058	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	3505735	73020058	61986458	81	4295											
DLG2	1740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	84245704	84245704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacatgcacgagttctgggCctcttacttcgtgggttagt	11	9	2	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:84245704C>A	ENST00000532653.1	-	2	415	c.113G>T	c.(112-114)gGc>gTc	p.G38V	DLG2_ENST00000543673.1_Missense_Mutation_p.G143V|DLG2_ENST00000376104.2_Missense_Mutation_p.G143V|DLG2_ENST00000524982.1_Missense_Mutation_p.G38V|DLG2_ENST00000398309.2_Missense_Mutation_p.G38V			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)				GAGTTCTGGGCCTCTTACTTC	0.408																																					p.G143V		.											.	DLG2-96	0			c.G428T						.						187	175	179					11																	84245704		1872	4117	5989	SO:0001583	missense	1740	exon7			TCTGGGCCTCTTA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.113G>T	11.37:g.84245704C>A	ENSP00000435849:p.Gly38Val	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	210	38	NM_001142699	0	0	0	0	0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.494812	0.85069	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.113010	0.35207	N	0.003361	T	0.47173	0.1431	L	0.48642	1.525	0.80722	D	1	B;B;P;B	0.36909	0.149;0.436;0.573;0.003	B;B;B;B	0.43155	0.098;0.41;0.23;0.006	T	0.17961	-1.0352	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	38;38;143;38	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	V	38;143;143;38;38;143;59	ENSP00000381355:G38V;ENSP00000365272:G143V;ENSP00000441994:G143V;ENSP00000432894:G38V;ENSP00000435849:G38V;ENSP00000435809:G59V	.	G	-	2	0	DLG2	83923352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.411000	0.59781	2.778000	0.95560	0.655000	0.94253	GGC	.		0.408	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		A	84245704	C	A	84245704	3	1	25	1	0	0	0	0	1	0	0	0	4569	739	26	3	2746	3	DLG2	11	84245704	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	11225646	84245704	50760812	82	4296											
MLL	4297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118368752	118368752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgatgacggatcactaaaGaatgtgcatatggctgtgat	12	5	1	4			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:118368752G>C	ENST00000389506.5	+	21	5757	c.5757G>C	c.(5755-5757)aaG>aaC	p.K1919N	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1922N|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1881N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1919					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)										GATCACTAAAGAATGTGCATA	0.413																																					p.K1922N		.											.	MLL-1255	0			c.G5766C						.						161	147	152					11																	118368752		2200	4296	6496	SO:0001583	missense	4297	exon21			ACTAAAGAATGTG	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.5757G>C	11.37:g.118368752G>C	ENSP00000374157:p.Lys1919Asn	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	162	33	NM_001197104	0	0	1	1	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736820	0.49045	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.71341	-0.56;-0.56;-0.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	L	0.54323	1.7	0.58432	D	0.999996	D;D	0.89917	0.988;1.0	P;D	0.87578	0.906;0.998	T	0.80504	-0.1353	10	0.72032	D	0.01	.	11.4479	0.50134	0.0908:0.0:0.9092:0.0	.	1922;1919	E9PQG7;Q03164	.;MLL1_HUMAN	N	1922;1919;1881;829	ENSP00000436786:K1922N;ENSP00000374157:K1919N;ENSP00000346516:K1881N	ENSP00000346516:K1881N	K	+	3	2	MLL	117873962	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.330000	0.43885	2.655000	0.90218	0.655000	0.94253	AAG	.		0.413	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118368752	G	C	118368752	3	2	25	1	0	0	0	0	1	0	0	0	9658	933	33	3	5839	3	MLL	11	118368752	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	34123048	118368752	16637764	83	4297											
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6426579	6426579	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccatgccttcgtgcaGgtgggagaaggggtgctggg	17	9	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6426579G>A	ENST00000396988.3	+	8	1097	c.867G>A	c.(865-867)caG>caA	p.Q289Q	PLEKHG6_ENST00000449001.2_Splice_Site_p.Q257Q|PLEKHG6_ENST00000536531.1_Splice_Site_p.Q289Q|PLEKHG6_ENST00000011684.7_Splice_Site_p.Q289Q|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	289	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCTTCGTGCAGGTGGGAGAAG	0.612																																					p.Q289Q		.											.	PLEKHG6-295	0			c.G867A						.						77	65	69					12																	6426579		2203	4300	6503	SO:0001630	splice_region_variant	55200	exon8			CGTGCAGGTGGGA	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.867+1G>A	12.37:g.6426579G>A		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	118	30	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	CCDS8541.1																																																																																			.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	Silent	A	6426579	G	A	6426579	5	1	25	1	0	0	0	0	0	0	1	0	12113	1014	35	3	939	3	PLEKHG6	12	6426579	Splice_Site	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		6426579	127425316	84	4298			2	18		5	5	568	G		2.046675e-12
PLEKHG6	55200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6426809	6426809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacccactgctgctccatGctgtgctcaagaggagcccc	10	15	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6426809G>A	ENST00000396988.3	+	9	1194	c.964G>A	c.(964-966)Gct>Act	p.A322T	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.A290T|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.A322T|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.A322T|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCTGCTCCATGCTGTGCTCAA	0.612																																					p.A322T		.											.	PLEKHG6-295	0			c.G964A						.						56	51	53					12																	6426809		2203	4300	6503	SO:0001583	missense	55200	exon9			CTCCATGCTGTGC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.964G>A	12.37:g.6426809G>A	ENSP00000380185:p.Ala322Thr	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	94	19	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197259	0.79015	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.88	4.88	0.63580	Dbl homology (DH) domain (5);	0.076523	0.50627	D	0.000117	T	0.76241	0.3960	L	0.58669	1.825	0.80722	D	1	D;D;D	0.71674	0.985;0.985;0.998	D;D;D	0.72338	0.924;0.918;0.977	T	0.72404	-0.4304	10	0.26408	T	0.33	-12.7296	13.4115	0.60946	0.0:0.0:1.0:0.0	.	290;322;322	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	T	322;322;322;290	ENSP00000011684:A322T;ENSP00000442836:A322T;ENSP00000380185:A322T;ENSP00000393194:A290T	ENSP00000011684:A322T	A	+	1	0	PLEKHG6	6297070	0.991000	0.36638	1.000000	0.80357	0.895000	0.52256	2.235000	0.43044	2.533000	0.85409	0.313000	0.20887	GCT	.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6426809	G	A	6426809	3	1	25	1	0	0	0	0	1	0	0	0	12113	1319	46	3	1040	3	PLEKHG6	12	6426809	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	230	6426809	127425086	85	4299			2	18		5	5	568	G		2.046675e-12
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6427086	6427086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccgccagggcgaagagcaaGagagcttggcggctgcagca	16	11	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427086G>A	ENST00000396988.3	+	10	1311	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.E329K|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E361K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E361K|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	361						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CGAAGAGCAAGAGAGCTTGGC	0.627																																					p.E361K		.											.	PLEKHG6-295	0			c.G1081A						.						35	33	33					12																	6427086		2195	4292	6487	SO:0001583	missense	55200	exon10			GAGCAAGAGAGCT	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1081G>A	12.37:g.6427086G>A	ENSP00000380185:p.Glu361Lys	Somatic	269	2		WXS	Illumina GAIIx	Phase_I	358	85	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677906	0.47886	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.67	4.67	0.58626	Dbl homology (DH) domain (1);	0.528439	0.18812	N	0.130462	T	0.65995	0.2745	M	0.71581	2.175	0.58432	D	0.999999	B;P;P	0.38922	0.292;0.516;0.651	B;B;B	0.38755	0.187;0.281;0.118	T	0.67799	-0.5577	10	0.40728	T	0.16	-10.3738	12.9541	0.58416	0.0:0.0:1.0:0.0	.	329;361;361	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	K	361;361;361;329	ENSP00000011684:E361K;ENSP00000442836:E361K;ENSP00000380185:E361K;ENSP00000393194:E329K	ENSP00000011684:E361K	E	+	1	0	PLEKHG6	6297347	1.000000	0.71417	0.247000	0.24249	0.690000	0.40134	4.012000	0.57131	2.423000	0.82170	0.313000	0.20887	GAG	.		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6427086	G	A	6427086	3	1	25	1	0	0	0	0	1	0	0	0	12113	943	33	3	1161	3	PLEKHG6	12	6427086	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	277	6427086	127424809	86	4300			2	18		5	5	568	G		2.046675e-12
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6427101	6427101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagagagcttggcggctGcagcacaacgcatcgggccc	14	13	0	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427101G>A	ENST00000396988.3	+	10	1326	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.A334T|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.A366T|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.A366T|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	366	Poly-Ala.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTTGGCGGCTGCAGCACAACG	0.612																																					p.A366T		.											.	PLEKHG6-295	0			c.G1096A						.						34	33	34					12																	6427101		2197	4286	6483	SO:0001583	missense	55200	exon10			GCGGCTGCAGCAC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1096G>A	12.37:g.6427101G>A	ENSP00000380185:p.Ala366Thr	Somatic	279	2		WXS	Illumina GAIIx	Phase_I	343	84	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050724	0.19827	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.8	2.98	0.34508	Dbl homology (DH) domain (1);	0.322809	0.29424	N	0.012182	T	0.53769	0.1817	L	0.45581	1.43	0.09310	N	0.999999	B;B;B	0.32245	0.046;0.1;0.361	B;B;B	0.28139	0.067;0.067;0.086	T	0.49133	-0.8971	10	0.52906	T	0.07	-5.107	7.1927	0.25834	0.2001:0.0:0.7999:0.0	.	334;366;366	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	T	366;366;366;334	ENSP00000011684:A366T;ENSP00000442836:A366T;ENSP00000380185:A366T;ENSP00000393194:A334T	ENSP00000011684:A366T	A	+	1	0	PLEKHG6	6297362	0.004000	0.15560	0.001000	0.08648	0.405000	0.30901	1.132000	0.31418	0.636000	0.30508	0.462000	0.41574	GCA	.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6427101	G	A	6427101	3	1	25	1	0	0	0	0	1	0	0	0	12113	1319	46	3	1176	3	PLEKHG6	12	6427101	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	15	6427101	127424794	87	4301			2	18		5	5	568	G		2.046675e-12
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6427146	6427146	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgctggagccacccagtGatgaggtggagaaggtgaga	18	6	0	4			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427146G>A	ENST00000396988.3	+	10	1371	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.D349N|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.D381N|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.D381N|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	381						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCACCCAGTGATGAGGTGGA	0.627																																					p.D381N		.											.	PLEKHG6-295	0			c.G1141A						.						37	39	38					12																	6427146		2200	4297	6497	SO:0001583	missense	55200	exon10			CCCAGTGATGAGG	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1141G>A	12.37:g.6427146G>A	ENSP00000380185:p.Asp381Asn	Somatic	266	1		WXS	Illumina GAIIx	Phase_I	283	68	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662790	0.47572	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.8	4.8	0.61643	Pleckstrin homology-type (1);	0.214888	0.37530	N	0.002053	T	0.68696	0.3029	L	0.49126	1.545	0.80722	D	1	P;P;B	0.52577	0.921;0.954;0.361	P;P;B	0.58454	0.777;0.839;0.075	T	0.65730	-0.6097	10	0.33141	T	0.24	-0.394	13.2345	0.59961	0.0:0.0:1.0:0.0	.	349;381;381	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	N	381;381;381;349	ENSP00000011684:D381N;ENSP00000442836:D381N;ENSP00000380185:D381N;ENSP00000393194:D349N	ENSP00000011684:D381N	D	+	1	0	PLEKHG6	6297407	1.000000	0.71417	0.916000	0.36221	0.293000	0.27360	7.470000	0.80973	2.487000	0.83934	0.462000	0.41574	GAT	.		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6427146	G	A	6427146	3	1	25	1	0	0	0	0	1	0	0	0	12113	1290	45	3	1221	3	PLEKHG6	12	6427146	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	45	6427146	127424749	88	4302			2	18		5	5	568	G		2.046675e-12
SCNN1A	6337	ucsc.edu;bcgsc.ca	37	chr12	6464989	6464989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccagaggttggagttgttCttgtcattgaaagtatagca	11	5	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6464989C>G	ENST00000228916.2	-	5	1031	c.933G>C	c.(931-933)aaG>aaC	p.K311N	SCNN1A_ENST00000540037.1_Missense_Mutation_p.K11N|SCNN1A_ENST00000360168.3_Missense_Mutation_p.K370N|SCNN1A_ENST00000396966.2_Missense_Mutation_p.K311N|SCNN1A_ENST00000543768.1_Missense_Mutation_p.K334N|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.K311N	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	311					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)	TGGAGTTGTTCTTGTCATTGA	0.493																																					p.K370N		.											.	SCNN1A-90	0			c.G1110C						.						264	236	245					12																	6464989		2203	4300	6503	SO:0001583	missense	6337	exon4			GTTGTTCTTGTCA	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.933G>C	12.37:g.6464989C>G	ENSP00000228916:p.Lys311Asn	Somatic	308	2		WXS	Illumina GAIIx	Phase_I	417	125	NM_001159576	0	0	9	10	1	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179170	0.57800	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.708209	0.13527	N	0.381225	T	0.59197	0.2176	L	0.41573	1.285	0.32190	N	0.579199	P;P;P	0.44344	0.833;0.695;0.692	P;P;B	0.49140	0.601;0.516;0.366	T	0.59332	-0.7474	10	0.22706	T	0.39	-26.0577	9.5413	0.39252	0.0:0.9039:0.0:0.0961	.	334;311;370	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	N	370;311;11;311;311;334	ENSP00000353292:K370N;ENSP00000351825:K311N;ENSP00000440876:K11N;ENSP00000228916:K311N;ENSP00000380166:K311N;ENSP00000438739:K334N	ENSP00000228916:K311N	K	-	3	2	SCNN1A	6335250	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.161000	0.31773	2.423000	0.82170	0.561000	0.74099	AAG	.		0.493	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			G	6464989	C	G	6464989	3	3	25	1	0	0	0	0	1	0	0	0	13972	912	32	3	1112	3	SCNN1A	12	6464989	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	37843	6464989	127386906	89	4303											
SSPN	8082	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	26377283	26377283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtctcatatcaggttgacGaacggacatgtattcaattt	9	7	3	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:26377283G>A	ENST00000242729.2	+	2	514	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	SSPN_ENST00000535504.1_Missense_Mutation_p.E113K|SSPN_ENST00000422622.2_Missense_Mutation_p.E10K|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.E10K	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	113					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TCAGGTTGACGAACGGACATG	0.383																																					p.E113K		.											.	SSPN-90	0			c.G337A						.						380	352	361					12																	26377283		2203	4300	6503	SO:0001583	missense	8082	exon2			GTTGACGAACGGA	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"Kras oncogene-associated gene"	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.337G>A	12.37:g.26377283G>A	ENSP00000242729:p.Glu113Lys	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	350	62	NM_005086	0	0	2	5	3	B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763562	0.89932	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067;ENST00000535504	T;T;T;T	0.57595	0.39;0.92;0.92;4.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.68356	-0.5430	10	0.36615	T	0.2	-8.6132	17.4061	0.87474	0.0:0.0:1.0:0.0	.	113;113	F5H0K2;Q14714	.;SSPN_HUMAN	K	10;10;10;113;87;113	ENSP00000445360:E10K;ENSP00000442893:E10K;ENSP00000396087:E10K;ENSP00000242729:E113K	ENSP00000242729:E113K	E	+	1	0	SSPN	26268550	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.308000	0.78929	2.614000	0.88457	0.655000	0.94253	GAA	.		0.383	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		A	26377283	G	A	26377283	3	1	25	1	0	0	0	0	1	0	0	0	15235	1059	37	1	343	1	SSPN	12	26377283	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	19912294	26377283	107474612	90	4304											
C12orf35	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32135056	32135056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactggacacaagtgttgcAaaagaaaagctagtaaggga	12	5	0	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:32135056A>G	ENST00000312561.4	+	4	1581	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	389																	CAAGTGTTGCAAAAGAAAAGC	0.328																																					p.A389A		.											.	.	0			c.A1167G						.						77	88	84					12																	32135056		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			TGTTGCAAAAGAA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1167A>G	12.37:g.32135056A>G		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	255	111	NM_018169	0	0	3	3	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.328	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32135056	A	G	32135056	2	3	25	1	0	0	0	0	0	0	0	1	1687	117	5	4		4	C12orf35	12	32135056	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	5757773	32135056	101716839	91	4305											
APOF	319	broad.mit.edu	37	chr12	56755866	56755866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatcaagacatttgtctGctttccatatgaagtggcat	9	8	2	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:56755866G>C	ENST00000398189.3	-	2	201	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.Q24E	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	42					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						ACATTTGTCTGCTTTCCATAT	0.522																																					p.Q42E		.											.	.	0			c.C124G						.						109	112	111					12																	56755866		2111	4228	6339	SO:0001583	missense	319	exon2			TTGTCTGCTTTCC	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.124C>G	12.37:g.56755866G>C	ENSP00000381250:p.Gln42Glu	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	553	13	NM_001638	0	0	0	0	0	Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317950	0.23994	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.48522	0.81;0.81	4.33	2.45	0.29901	.	1.103520	0.07182	N	0.854299	T	0.39332	0.1074	L	0.46157	1.445	0.09310	N	1	B	0.31817	0.341	B	0.32762	0.152	T	0.30208	-0.9986	10	0.23891	T	0.37	-1.3783	5.9021	0.18972	0.1056:0.204:0.6905:0.0	.	42	Q13790	APOF_HUMAN	E	42;24	ENSP00000381250:Q42E;ENSP00000440997:Q24E	ENSP00000381250:Q42E	Q	-	1	0	APOF	55042133	0.001000	0.12720	0.129000	0.21949	0.139000	0.21198	0.200000	0.17257	0.745000	0.32763	0.650000	0.86243	CAG	.		0.522	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			C	56755866	G	C	56755866	3	2	25	1	0	0	0	0	1	0	0	0	803	1328	46	3	860	3	APOF	12	56755866	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	24620810	56755866	77096029	92	4306											
SLC5A8	160728	broad.mit.edu	37	chr12	101584302	101584302	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgcacctgggattggttGacaccgtagatgctggtcca	12	11	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:101584302G>A	ENST00000536262.2	-	6	1335	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGGATTGGTTGACACCGTAGA	0.393																																					p.V259V	GBM(60;420 1056 13605 22380 47675)	.											.	SLC5A8-90	0			c.C777T						.						150	144	146					12																	101584302		2203	4300	6503	SO:0001819	synonymous_variant	160728	exon6			TTGGTTGACACCG	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.777C>T	12.37:g.101584302G>A		Somatic	184	0		WXS	Illumina GAIIx	Phase_I	209	6	NM_145913	0	0	0	0	0		Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																			.		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		A	101584302	G	A	101584302	2	1	25	1	0	0	0	0	0	0	0	1	14716	1277	45	3		3	SLC5A8	12	101584302	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	44828436	101584302	32267593	93	4307											
CHPT1	56994	broad.mit.edu	37	chr12	102091784	102091784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagccgccgctgcagctcTactggacctggctgctccag	12	16	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:102091784T>G	ENST00000229266.3	+	1	380	c.145T>G	c.(145-147)Tac>Gac	p.Y49D	CHPT1_ENST00000549872.1_Missense_Mutation_p.Y49D|CHPT1_ENST00000550385.1_Intron	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	49					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTGCAGCTCTACTGGACCTG	0.706																																					p.Y49D		.											.	CHPT1-90	0			c.T145G						.						19	14	15					12																	102091784		2195	4281	6476	SO:0001583	missense	56994	exon1			CAGCTCTACTGGA		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"phosphatidylcholine synthesizing enzyme"					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.145T>G	12.37:g.102091784T>G	ENSP00000229266:p.Tyr49Asp	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	17	4	NM_020244	0	0	23	34	11	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488320	0.84854	.	.	ENSG00000111666	ENST00000229266;ENST00000549872	T;T	0.49720	0.77;0.78	3.77	3.77	0.43336	.	0.216636	0.40728	N	0.001033	T	0.60483	0.2272	M	0.67700	2.07	0.53688	D	0.999971	P;D	0.56746	0.757;0.977	P;P	0.58266	0.599;0.836	T	0.65903	-0.6055	10	0.87932	D	0	-17.4985	12.3778	0.55289	0.0:0.0:0.0:1.0	.	49;49	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	D	49	ENSP00000229266:Y49D;ENSP00000448766:Y49D	ENSP00000229266:Y49D	Y	+	1	0	CHPT1	100615915	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.344000	0.72991	1.573000	0.49748	0.392000	0.25879	TAC	.		0.706	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		G	102091784	T	G	102091784	3	3	25	1	0	0	0	0	1	0	0	0	3377	1522	53	5	147	5	CHPT1	12	102091784	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	507482	102091784	31760111	94	4308											
CORO1C	23603	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	109055859	109055862	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													ccaagccacgatgccgactcTctttgagtggccttccaaaa							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	TCTT	TCTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:109055859_109055862delTCTT	ENST00000261401.3	-	4	563_566	c.391_394delAAGA	c.(391-396)aagagafs	p.KR131fs	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Frame_Shift_Del_p.KR131fs|CORO1C_ENST00000420959.2_Frame_Shift_Del_p.KR184fs|CORO1C_ENST00000421578.2_Frame_Shift_Del_p.KR26fs|CORO1C_ENST00000549772.1_Frame_Shift_Del_p.KR137fs	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	131					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATGCCGACTCTCTTTGAGTGGCCT	0.534																																					p.131_132del		.											.	CORO1C-228	0			c.391_394del						.																																			SO:0001589	frameshift_variant	23603	exon4			CGACTCTCTTTGA	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"Coronins", "WD repeat domain containing"	2254	protein-coding gene	gene with protein product		605269	"coronin, actin-binding protein, 1C"			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.391_394delAAGA	12.37:g.109055859_109055862delTCTT	ENSP00000261401:p.Lys131fs	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	155	32	NM_014325	0	0	0	0	0	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Frame_Shift_Del	DEL	ENST00000261401.3	37	CCDS9120.1																																																																																			.		0.534	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		-	109055862	TCTT	-	109055859	7	5	25	1	0	1	0	1	0	0	0	0	3762	1559	54	0	1062	0	CORO1C	12	109055859	Frame_Shift_Del	DEL	TCTT	TCGA-OR-A5JY-01A-31D-A29I-10	6964075	109055859	24796036	95	4309											
C12orf65	91574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123741386	123741386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacaagatcagttgatcaGaacagaaagctagctcggaa	10	8	2	5	rs573747271	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:123741386G>T	ENST00000253233.1	+	3	953	c.309G>T	c.(307-309)caG>caT	p.Q103H	RP11-282O18.3_ENST00000544890.1_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.Q103H|C12orf65_ENST00000429587.2_Missense_Mutation_p.Q103H|RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.3_ENST00000542427.2_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	103	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CAGTTGATCAGAACAGAAAGC	0.373																																					p.Q103H		.											.	C12orf65-90	0			c.G309T						.						55	58	57					12																	123741386		2203	4300	6503	SO:0001583	missense	91574	exon3			TGATCAGAACAGA	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.309G>T	12.37:g.123741386G>T	ENSP00000253233:p.Gln103His	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	206	30	NM_001194995	0	0	35	44	9	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407725	0.42715	.	.	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.86	-8.63	0.00878	Peptide chain release factor class I/class II (1);	0.435148	0.27345	N	0.019788	T	0.16811	0.0404	M	0.85197	2.74	0.23773	N	0.996887	B	0.21452	0.056	B	0.24269	0.052	T	0.16630	-1.0396	10	0.87932	D	0	-8.9987	13.744	0.62863	0.237:0.1078:0.6552:0.0	.	103	Q9H3J6	CL065_HUMAN	H	103	ENSP00000253233:Q103H;ENSP00000390647:Q103H;ENSP00000444843:Q103H;ENSP00000391513:Q103H	ENSP00000253233:Q103H	Q	+	3	2	C12orf65	122307339	0.035000	0.19736	0.323000	0.25347	0.988000	0.76386	-0.454000	0.06770	-1.694000	0.01425	-0.313000	0.08912	CAG	.		0.373	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		T	123741386	G	T	123741386	3	4	25	1	0	0	0	0	1	0	0	0	1713	933	33	3	315	3	C12orf65	12	123741386	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	14685527	123741386	10110509	96	4310											
EFHA1	221154	hgsc.bcm.edu	37	chr13	22178258	22178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgccccaggccgccacCcgcgcgcagctacccgcagc	10	22	0	0	rs9509812	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3	3	3		30	-1.6	0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_152726	0	0	2	21	19	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		T	22178258	C	T	22178258	2	4	25	1	0	0	0	0	0	0	0	1	4957	610	22	3		3	EFHA1	13	22178258	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		22178258	92991620	97	4311											
ATP7B	540	bcgsc.ca	37	chr13	52544805	52544805	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagccacttcctgcaCagatgtaggtgtaccatctg	13	10	1	1	rs1801244	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr13:52544805C>G	ENST00000242839.4	-	3	1522	c.1366G>C	c.(1366-1368)Gtg>Ctg	p.V456L	ATP7B_ENST00000448424.2_Missense_Mutation_p.V456L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V345L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V456L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V456L|ATP7B_ENST00000542656.1_Missense_Mutation_p.V424L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	456			V -> L (in dbSNP:rs1801244). {ECO:0000269|PubMed:10721669, ECO:0000269|PubMed:10790207, ECO:0000269|PubMed:11690702, ECO:0000269|PubMed:14986826, ECO:0000269|PubMed:15952988, ECO:0000269|PubMed:15967699, ECO:0000269|PubMed:18373411, ECO:0000269|PubMed:9887381, ECO:0000269|Ref.2}.		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)	ACTTCCTGCACAGATGTAGGT	0.512									Wilson disease				C|||	1888	0.376997	0.1868	0.389	5008	,	,		18719	0.4841		0.5258	False		,,,				2504	0.362				p.V456L		.											.	ATP7B-92	0			c.G1366C						.	C	LEU/VAL,LEU/VAL	887,3065		90,707,1179	126	121	123		1366,1366	-0.2	0	13	dbSNP_89	123	4068,4208		1013,2042,1083	yes	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	32,32	1103,2749,2262	GG,GC,CC		49.1542,22.4443,40.5218	benign,benign	456/1466,456/1259	52544805	4955,7273	1976	4138	6114	SO:0001583	missense	540	exon3	Familial Cancer Database		CCTGCACAGATGT	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.1366G>C	13.37:g.52544805C>G	ENSP00000242839:p.Val456Leu	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	102	7	NM_000053	0	0	0	0	0	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	907	0.4152930402930403	99	0.20121951219512196	152	0.4198895027624309	264	0.46153846153846156	392	0.5171503957783641	C	11.11	1.543605	0.27563	0.224443	0.491542	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.96168	-3.8;-3.8;-3.93;-3.74;-3.82;-1.94	5.17	-0.181	0.13291	.	0.905138	0.09744	N	0.761497	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B;B;B;B;B;B	0.20164	0.009;0.004;0.0;0.023;0.003;0.042;0.001	B;B;B;B;B;B;B	0.22386	0.02;0.009;0.0;0.039;0.018;0.032;0.002	T	0.28073	-1.0055	9	0.09843	T	0.71	-10.9119	2.1644	0.03833	0.1161:0.3756:0.2808:0.2275	rs1801244;rs3742287;rs17401228;rs52819705;rs58218043;rs1801244	424;456;456;456;345;456;456	F6XIH0;E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	L	456;345;456;456;456;424	ENSP00000242839:V456L;ENSP00000383217:V345L;ENSP00000342559:V456L;ENSP00000416738:V456L;ENSP00000393343:V456L;ENSP00000443128:V424L	ENSP00000242839:V456L	V	-	1	0	ATP7B	51442806	0.000000	0.05858	0.001000	0.08648	0.631000	0.37964	-1.004000	0.03678	0.214000	0.20742	0.655000	0.94253	GTG	C|0.518;G|0.482		0.512	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		G	52544805	C	G	52544805	3	3	25	1	0	0	0	0	1	0	0	0	1192	478	17	3	3107	3	ATP7B	13	52544805	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	30366547	52544805	62625073	98	4312											
C14orf145	145508	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81259323	81259323	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatcctccgcatggcgagtCagctctgagatctgaaggtc	12	12	3	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:81259323C>A	ENST00000555265.1	-	14	1716	c.1341G>T	c.(1339-1341)ctG>ctT	p.L447L	CEP128_ENST00000281129.3_Silent_p.L447L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	447						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CATGGCGAGTCAGCTCTGAGA	0.542																																					p.L447L		.											.	CEP128-91	0			c.G1341T						.						170	149	156					14																	81259323		2203	4300	6503	SO:0001819	synonymous_variant	145508	exon13			GCGAGTCAGCTCT	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1341G>T	14.37:g.81259323C>A		Somatic	203	1		WXS	Illumina GAIIx	Phase_I	157	29	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																			.		0.542	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		A	81259323	C	A	81259323	2	1	25	1	0	0	0	0	0	0	0	1	1754	813	29	3		3	C14orf145	14	81259323	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		81259323	26090217	99	4313											
DYNC1H1	1778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	102463457	102463457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattgacaacatcgagggagAgtggggagccttcaatgaca	13	7	1	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:102463457A>T	ENST00000360184.4	+	16	3814	c.3650A>T	c.(3649-3651)gAg>gTg	p.E1217V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1217	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCGAGGGAGAGTGGGGAGCC	0.512																																					p.E1217V		.											.	DYNC1H1-98	0			c.A3650T						.						64	60	61					14																	102463457		2203	4300	6503	SO:0001583	missense	1778	exon16			AGGGAGAGTGGGG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3650A>T	14.37:g.102463457A>T	ENSP00000348965:p.Glu1217Val	Somatic	280	2		WXS	Illumina GAIIx	Phase_I	214	55	NM_001376	0	0	10	10	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	34	5.311251	0.95655	.	.	ENSG00000197102	ENST00000360184	T	0.55052	0.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82464	-0.0444	10	0.62326	D	0.03	.	16.5724	0.84622	1.0:0.0:0.0:0.0	.	1217	Q14204	DYHC1_HUMAN	V	1217	ENSP00000348965:E1217V	ENSP00000348965:E1217V	E	+	2	0	DYNC1H1	101533210	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.276000	0.95745	2.313000	0.78055	0.455000	0.32223	GAG	.		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102463457	A	T	102463457	3	4	25	1	0	0	0	0	1	0	0	0	4855	304	11	5	3712	5	DYNC1H1	14	102463457	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	21204134	102463457	4886083	100	4314											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	25	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	2180642	104644099	2705441	101	4315											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu	37	chr14	105416541	105416541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggccactttgggcatcttCaaactgggcatctgcacctt	10	12	3	0	rs201377031		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:105416541C>A	ENST00000333244.5	-	7	5366	c.5247G>T	c.(5245-5247)ttG>ttT	p.L1749F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1749						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L1749F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATCTTCAAACTGGGCA	0.652																																					p.L1749F		.											.	AHNAK2-47	1	Substitution - Missense(1)	lung(1)	c.G5247T						.						92	104	101					14																	105416541		1812	4039	5851	SO:0001583	missense	113146	exon7			CATCTTCAAACTG	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.5247G>T	14.37:g.105416541C>A	ENSP00000353114:p.Leu1749Phe	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	113	6	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.703848	0.00719	.	.	ENSG00000185567	ENST00000333244	T	0.00588	6.37	4.47	-4.96	0.03038	.	.	.	.	.	T	0.00300	0.0009	N	0.02357	-0.585	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41627	-0.9498	9	0.12766	T	0.61	-3.6873	12.8761	0.57991	0.0:0.4713:0.3441:0.1846	.	1749	Q8IVF2	AHNK2_HUMAN	F	1749	ENSP00000353114:L1749F	ENSP00000353114:L1749F	L	-	3	2	AHNAK2	104487586	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.736000	0.00801	-0.839000	0.04212	-3.508000	0.00033	TTG	.		0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416541	C	A	105416541	3	1	25	1	0	0	0	0	1	0	0	0	415	825	29	3	12144	3	AHNAK2	14	105416541	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	772442	105416541	1932999	102	4316											
CHRFAM7A	89832	broad.mit.edu;bcgsc.ca	37	chr15	30659708	30659708	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accgagaggcccacgatgatCatggtgctggcgaagtactg	14	10	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:30659708C>G	ENST00000299847.2	-	9	1086	c.633G>C	c.(631-633)atG>atC	p.M211I	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.M120I|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.M120I	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	211						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCACGATGATCATGGTGCTGG	0.622																																					p.M211I		.											.	CHRFAM7A-45	0			c.G633C						.						123	102	109					15																	30659708		2190	4288	6478	SO:0001583	missense	89832	exon9			GATGATCATGGTG	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.633G>C	15.37:g.30659708C>G	ENSP00000299847:p.Met211Ile	Somatic	1656	0		WXS	Illumina GAIIx	Phase_I	2136	79	NM_139320	0	0	4	4	0	A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.401449	0.83120	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.87571	-2.27;-2.27;-2.27	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.74647	2.275	0.80722	D	1	P	0.52061	0.95	P	0.53760	0.734	D	0.91118	0.4927	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	211	Q494W8	CRFM7_HUMAN	I	211;120;120	ENSP00000299847:M211I;ENSP00000380927:M120I;ENSP00000385389:M120I	ENSP00000299847:M211I	M	-	3	0	CHRFAM7A	28447000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	ATG	.		0.622	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		G	30659708	C	G	30659708	3	3	25	1	0	0	0	0	1	0	0	0	3382	826	29	3	613	3	CHRFAM7A	15	30659708	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		30659708	71871684	103	4317											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369947	65369947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctacgccatcggcgGcgaattccagaggacgccca	11	17	1	1	rs146917406	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:65369947G>A	ENST00000432196.2	+	1	794	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	265					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						GCCATCGGCGGCGAATTCCAG	0.731													g|||	20	0.00399361	8e-04	0.0058	5008	,	,		12084	0		0.0089	False		,,,				2504	0.0061				p.G265D		.											.	.	0			c.G794A						.		ASP/GLY	7,3503		0,7,1748	4	6	6		794	5.3	1	15	dbSNP_134	6	101,7689		0,101,3794	yes	missense	KBTBD13	NM_001101362.2	94	0,108,5542	AA,AG,GG		1.2965,0.1994,0.9558	probably-damaging	265/459	65369947	108,11192	1755	3895	5650	SO:0001583	missense	390594	exon1			TCGGCGGCGAATT		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.794G>A	15.37:g.65369947G>A	ENSP00000388723:p.Gly265Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	27	11	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	18	0.008241758241758242	7	0.014227642276422764	3	0.008287292817679558	0	0.0	8	0.010554089709762533	g	20.9	4.061646	0.76187	0.001994	0.012965	ENSG00000234438	ENST00000432196	D	0.99494	-6.01	5.28	5.28	0.74379	Kelch-type beta propeller (1);	.	.	.	.	D	0.99554	0.9840	H	0.95328	3.655	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.95058	0.8193	9	0.87932	D	0	.	18.5255	0.90971	0.0:0.0:1.0:0.0	.	265	C9JR72	KBTBD_HUMAN	D	265	ENSP00000388723:G265D	ENSP00000388723:G265D	G	+	2	0	KBTBD13	63157000	1.000000	0.71417	0.997000	0.53966	0.304000	0.27724	9.522000	0.98032	2.456000	0.83038	0.651000	0.88453	GGC	G|0.992;A|0.008		0.731	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		A	65369947	G	A	65369947	3	1	25	1	0	0	0	0	1	0	0	0	8019	1203	42	3	796	3	KBTBD13	15	65369947	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	34710239	65369947	37161445	104	4318											
GOLGA6D	653643	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	75586797	75586797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagatcgtgcagctgtctcCtgtcatgcaggacacctagg	12	12	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:75586797C>A	ENST00000434739.3	+	18	2104	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	688						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CAGCTGTCTCCTGTCATGCAG	0.572																																					p.P688H		.											.	.	0			c.C2063A						.						19	28	25					15																	75586797		647	1578	2225	SO:0001583	missense	653643	exon18			TGTCTCCTGTCAT		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.2063C>A	15.37:g.75586797C>A	ENSP00000391085:p.Pro688His	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	327	58	NM_001145224	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036771	0.07497	.	.	ENSG00000140478	ENST00000434739	T	0.20332	2.08	1.56	-2.35	0.06684	.	.	.	.	.	T	0.31199	0.0789	L	0.49571	1.57	0.24034	N	0.996103	D	0.89917	1.0	D	0.91635	0.999	T	0.15983	-1.0418	9	0.52906	T	0.07	.	3.439	0.07457	0.4825:0.2219:0.2957:0.0	.	688	P0CG33	GOG6D_HUMAN	H	688	ENSP00000391085:P688H	ENSP00000391085:P688H	P	+	2	0	GOLGA6D	73373850	0.041000	0.20044	0.012000	0.15200	0.003000	0.03518	0.853000	0.27777	-0.638000	0.05509	0.173000	0.16961	CCT	.		0.572	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		A	75586797	C	A	75586797	3	1	25	1	0	0	0	0	1	0	0	0	6586	681	24	3	2133	3	GOLGA6D	15	75586797	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	10216850	75586797	26944595	105	4319											
RHBDF1	64285	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	108431	108431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccactcacagcggacagGatagacgtagaagaggacca	11	11	1	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:108431G>A	ENST00000262316.6	-	18	2618	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	826					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGGACAGGATAGACGTAG	0.562																																					p.P826S		.											.	RHBDF1-92	0			c.C2476T						.						148	152	150					16																	108431		2203	4300	6503	SO:0001583	missense	64285	exon18			GGACAGGATAGAC	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2476C>T	16.37:g.108431G>A	ENSP00000262316:p.Pro826Ser	Somatic	289	1		WXS	Illumina GAIIx	Phase_I	154	36	NM_022450	0	0	22	36	14	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.294006	0.81025	.	.	ENSG00000007384	ENST00000262316	T	0.52057	0.68	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.81341	2.54	0.80722	D	1	P	0.42483	0.781	P	0.47827	0.558	T	0.69007	-0.5259	10	0.87932	D	0	-17.0839	17.7897	0.88548	0.0:0.0:1.0:0.0	.	826	Q96CC6	RHDF1_HUMAN	S	826	ENSP00000262316:P826S	ENSP00000262316:P826S	P	-	1	0	RHBDF1	48431	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	9.669000	0.98622	2.512000	0.84698	0.591000	0.81541	CCT	.		0.562	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		A	108431	G	A	108431	3	1	25	1	0	0	0	0	1	0	0	0	13364	1174	41	3	95	3	RHBDF1	16	108431	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		108431	90246322	106	4320											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	25	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	3196142	3304573	87050180	107	4321											
ERI2	112479	broad.mit.edu	37	chr16	20810067	20810067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccttgcttttgcataTagataggtgaattcaaggta	8	5	1	2	rs3213646	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:20810067T>C	ENST00000357967.4	-	9	1097	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	ERI2_ENST00000563117.1_Missense_Mutation_p.Y259C|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Missense_Mutation_p.Y259C|ERI2_ENST00000389345.5_Missense_Mutation_p.Y87C|ERI2_ENST00000569729.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	352				Y -> C (in Ref. 4; BAA96028). {ECO:0000305}.			exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTTTGCATATAGATAGGTGA	0.383													T|||	1602	0.319888	0.0915	0.5014	5008	,	,		20635	0.1528		0.5805	False		,,,				2504	0.4039				p.Y352C		.											.	ERI2-153	0			c.A1055G						.	T	CYS/TYR,	245,1139		18,209,465	105	90	95		1055,	-4.4	0	16	dbSNP_106	95	1820,1362		509,802,280	yes	missense,intron	ERI2	NM_001142725.1,NM_080663.2	194,	527,1011,745	CC,CT,TT		42.8033,17.7023,45.2256	benign,	352/692,	20810067	2065,2501	692	1591	2283	SO:0001583	missense	112479	exon9			TGCATATAGATAG	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1055A>G	16.37:g.20810067T>C	ENSP00000350651:p.Tyr352Cys	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	76	3	NM_001142725	0	0	4	4	0	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	747	0.34203296703296704	54	0.10975609756097561	168	0.46408839779005523	88	0.15384615384615385	437	0.5765171503957783	T	7.807	0.714797	0.15306	0.177023	0.571967	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.19105	2.21;2.17	4.94	-4.38	0.03622	.	2.213460	0.01814	N	0.033658	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46679	-0.9174	9	0.40728	T	0.16	1.6145	4.0005	0.09577	0.1145:0.2589:0.4658:0.1609	rs3213646;rs17690686;rs52837000;rs58027232;rs3213646	352	A8K979	ERI2_HUMAN	C	352;87	ENSP00000350651:Y352C;ENSP00000373996:Y87C	ENSP00000350651:Y352C	Y	-	2	0	ERI2	20717568	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-0.080000	0.11339	-0.792000	0.04480	0.533000	0.62120	TAT	T|0.674;C|0.326		0.383	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		C	20810067	T	C	20810067	3	2	25	1	0	0	0	0	1	0	0	0	5244	1406	49	4	1291	4	ERI2	16	20810067	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	17505494	20810067	69544686	108	4322											
ABCC11	85320	broad.mit.edu;bcgsc.ca	37	chr16	48209224	48209224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcactgagagcttggaccGcaagtcctccaggccgatgc	12	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:48209224G>A	ENST00000394747.1	-	25	3992	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCTTGGACCGCAAGTCCTCC	0.622																																					p.R1215W		.											.	ABCC11-95	0			c.C3643T						.						87	68	75					16																	48209224		2201	4300	6501	SO:0001583	missense	85320	exon25			TGGACCGCAAGTC	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.3643C>T	16.37:g.48209224G>A	ENSP00000378230:p.Arg1215Trp	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	169	7	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998707	0.74818	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.99	2.72	0.32119	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.977;1.0	D	0.94753	0.7929	10	0.87932	D	0	-11.4901	4.5859	0.12282	0.1267:0.0:0.5176:0.3557	.	1215;1215	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	1215	ENSP00000311326:R1215W;ENSP00000349017:R1215W;ENSP00000378231:R1215W;ENSP00000378230:R1215W	ENSP00000311326:R1215W	R	-	1	2	ABCC11	46766725	1.000000	0.71417	0.310000	0.25168	0.990000	0.78478	2.368000	0.44222	0.342000	0.23796	0.591000	0.81541	CGG	.		0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48209224	G	A	48209224	3	1	25	1	0	0	0	0	1	0	0	0	51	1086	38	1	525	1	ABCC11	16	48209224	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	27399157	48209224	42145529	109	4323											
CNOT1	23019	bcgsc.ca	37	chr16	58575489	58575489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgcgtgcaaactcttcGtaaacagccaactgctttgg	8	11	1	0	rs11540994	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:58575489G>A	ENST00000317147.5	-	34	5048	c.4716C>T	c.(4714-4716)taC>taT	p.Y1572Y	CNOT1_ENST00000245138.4_Silent_p.Y423Y|CNOT1_ENST00000569240.1_Silent_p.Y1567Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1572	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAACTCTTCGTAAACAGCCA	0.398													G|||	2430	0.485224	0.6687	0.2983	5008	,	,		18050	0.5704		0.3211	False		,,,				2504	0.4509				p.Y1572Y		.											.	CNOT1-95	0			c.C4716T						.	G		2658,1738	646.7+/-398.4	835,988,375	106	101	103		4716	3.7	1	16	dbSNP_120	103	2516,6084	411.9+/-350.6	380,1756,2164	no	coding-synonymous	CNOT1	NM_016284.3		1215,2744,2539	AA,AG,GG		29.2558,39.5359,39.8122		1572/2377	58575489	5174,7822	2198	4300	6498	SO:0001819	synonymous_variant	23019	exon34			CTCTTCGTAAACA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4716C>T	16.37:g.58575489G>A		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	135	6	NM_016284	0	0	43	43	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			G|0.583;A|0.417		0.398	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		A	58575489	G	A	58575489	2	1	25	1	0	0	0	0	0	0	0	1	3624	1140	40	1		1	CNOT1	16	58575489	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	10366265	58575489	31779264	110	4324											
CALB2	794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	71416647	71416647	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagtacgacacagacaGgagtggctacatcgaagcca	13	10	0	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:71416647G>C	ENST00000302628.4	+	5	445	c.368G>C	c.(367-369)aGg>aCg	p.R123T	CALB2_ENST00000349553.5_Missense_Mutation_p.R123T	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	123	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GACACAGACAGGAGTGGCTAC	0.542																																					p.R123T		.											.	CALB2-90	0			c.G368C						.						215	188	198					16																	71416647		2198	4300	6498	SO:0001583	missense	794	exon5			CAGACAGGAGTGG	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.368G>C	16.37:g.71416647G>C	ENSP00000307508:p.Arg123Thr	Somatic	318	0		WXS	Illumina GAIIx	Phase_I	216	81	NM_007088	0	0	0	0	0	A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481071	0.84747	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.71461	-0.57;-0.57	5.86	5.86	0.93980	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.79343	2.45	0.58432	D	0.999997	P;P	0.51933	0.949;0.949	P;P	0.55667	0.781;0.781	T	0.76623	-0.2891	10	0.20519	T	0.43	-15.504	19.0307	0.92955	0.0:0.0:1.0:0.0	.	123;123	A6NER6;P22676	.;CALB2_HUMAN	T	123	ENSP00000340294:R123T;ENSP00000307508:R123T	ENSP00000307508:R123T	R	+	2	0	CALB2	69974148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.209000	0.95087	2.784000	0.95788	0.644000	0.83932	AGG	.		0.542	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		C	71416647	G	C	71416647	3	2	25	1	0	0	0	0	1	0	0	0	2581	1000	35	3	386	3	CALB2	16	71416647	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	12841158	71416647	18938106	111	4325											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599659	88599659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccaggactggacagaaaGgccctggccgaggccaccaa	13	14	0	1	rs71395304	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:88599659G>T	ENST00000319555.3	+	10	1615	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	431					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGACAGAAAGGCCCTGGCCG	0.721													G|||	612	0.122204	0.0091	0.1398	5008	,	,		9175	0.3294		0.0915	False		,,,				2504	0.0808				p.K431N	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.G1293T						.	G	ASN/LYS	61,3871		0,61,1905	4	5	4		1293	-1.2	0.1	16	dbSNP_130	4	544,7434		10,524,3455	yes	missense	ZFPM1	NM_153813.2	94	10,585,5360	TT,TG,GG		6.8188,1.5514,5.0798	probably-damaging	431/1007	88599659	605,11305	1966	3989	5955	SO:0001583	missense	161882	exon10			CAGAAAGGCCCTG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1293G>T	16.37:g.88599659G>T	ENSP00000326630:p.Lys431Asn	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	19	4	NM_153813	0	0	3	3	0		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	308	0.14102564102564102	9	0.018292682926829267	49	0.13535911602209943	192	0.3356643356643357	58	0.07651715039577836	G	10.12	1.262467	0.23051	0.015514	0.068188	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.39	-1.17	0.09648	.	1.163550	0.06454	U	0.728227	T	0.00012	0.0000	L	0.60455	1.87	0.40357	P	0.02080599999999999	D	0.69078	0.997	P	0.57911	0.829	T	0.41161	-0.9524	9	0.42905	T	0.14	-7.9024	6.4423	0.21856	0.5249:0.0:0.4751:0.0	.	431	Q8IX07	FOG1_HUMAN	N	431	ENSP00000326630:K431N	ENSP00000326630:K431N	K	+	3	2	ZFPM1	87127160	0.522000	0.26266	0.089000	0.20774	0.599000	0.36880	0.335000	0.19806	-0.105000	0.12132	0.289000	0.19496	AAG	G|0.858;T|0.142		0.721	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			T	88599659	G	T	88599659	3	4	25	1	0	0	0	0	1	0	0	0	17705	991	35	3	1331	3	ZFPM1	16	88599659	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	17183012	88599659	1755094	112	4326											
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	970425	970425	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagactcctcgggggaTggaaacaccaggtcggccag	14	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:970425T>C	ENST00000302538.5	-	10	1220	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	ABR_ENST00000536794.2_Silent_p.P140P|ABR_ENST00000574437.1_Silent_p.P312P|ABR_ENST00000544583.2_Silent_p.P312P|ABR_ENST00000291107.2_Silent_p.P321P	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCGGGGGATGGAAACACCA	0.592																																					p.P358P	Esophageal Squamous(197;2016 2115 4129 29033 46447)	.											.	ABR-91	0			c.A1074G						.						36	35	35					17																	970425		2203	4300	6503	SO:0001819	synonymous_variant	29	exon10			GGGGGATGGAAAC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1074A>G	17.37:g.970425T>C		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	19	8	NM_021962	0	0	0	0	0	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																			.		0.592	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			C	970425	T	C	970425	2	2	25	1	0	0	0	0	0	0	0	1	99	1451	51	4		4	ABR	17	970425	Silent	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10		970425	80224785	113	4327											
ARRB2	409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4619770	4619770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggatgtgctgggcttgtCcttccgcaaagacctgttca	11	12	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:4619770C>T	ENST00000269260.2	+	5	457	c.224C>T	c.(223-225)tCc>tTc	p.S75F	ARRB2_ENST00000412477.3_Missense_Mutation_p.S75F|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.S75F|ARRB2_ENST00000346341.2_Missense_Mutation_p.S60F|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.S60F	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	75					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTGGGCTTGTCCTTCCGCAAA	0.657																																					p.S75F		.											.	ARRB2-522	0			c.C224T						.						159	114	129					17																	4619770		2203	4300	6503	SO:0001583	missense	409	exon5			GCTTGTCCTTCCG		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.224C>T	17.37:g.4619770C>T	ENSP00000269260:p.Ser75Phe	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	81	38	NM_001257329	0	0	7	7	0	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833394	0.91036	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.67	4.67	0.58626	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.78049	2.395	0.80722	D	1	P;D;D;D;D	0.89917	0.953;0.996;0.991;1.0;0.994	P;D;P;D;D	0.85130	0.863;0.917;0.879;0.997;0.929	T	0.62374	-0.6868	10	0.87932	D	0	-16.0239	15.1099	0.72346	0.0:1.0:0.0:0.0	.	75;60;75;60;75	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	F	75;75;60;76	ENSP00000269260:S75F;ENSP00000341895:S60F	ENSP00000269260:S75F	S	+	2	0	ARRB2	4566519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.291000	0.78721	2.437000	0.82529	0.563000	0.77884	TCC	.		0.657	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		T	4619770	C	T	4619770	3	4	25	1	0	0	0	0	1	0	0	0	982	855	30	3	242	3	ARRB2	17	4619770	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	3649345	4619770	76575440	114	4328											
SLC13A5	284111	bcgsc.ca	37	chr17	6594223	6594223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcactgcgtgcaagggctCcatctgcttccccatccaca	10	16	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:6594223C>T	ENST00000433363.2	-	10	1545	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E421K|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E438K|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E395K	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	438					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCAAGGGCTCCATCTGCTTC	0.627																																					p.E438K		.											.	SLC13A5-90	0			c.G1312A						.						150	133	139					17																	6594223		2203	4300	6503	SO:0001583	missense	284111	exon10			AGGGCTCCATCTG	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.1312G>A	17.37:g.6594223C>T	ENSP00000406220:p.Glu438Lys	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	100	29	NM_001143838	0	0	0	0	0	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	5.164	0.215809	0.09810	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.02631	4.22;4.22	5.06	3.05	0.35203	.	0.259165	0.43110	N	0.000610	T	0.01905	0.0060	N	0.17674	0.51	0.39057	D	0.960442	B;B;B;B	0.17268	0.008;0.021;0.005;0.002	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.42832	-0.9428	10	0.07482	T	0.82	.	9.0939	0.36627	0.0:0.8197:0.0:0.1803	.	438;395;421;438	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	K	438;438;395	ENSP00000406220:E438K;ENSP00000370464:E395K	ENSP00000293800:E438K	E	-	1	0	SLC13A5	6534947	0.727000	0.28069	1.000000	0.80357	0.620000	0.37586	0.521000	0.22893	1.272000	0.44329	-0.140000	0.14226	GAG	.		0.627	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		T	6594223	C	T	6594223	3	4	25	1	0	0	0	0	1	0	0	0	14440	864	30	3	406	3	SLC13A5	17	6594223	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1974453	6594223	74600987	115	4329											
UTP18	51096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	49354664	49354664	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcctgtgcatcaagtgagAggtaagatttctgttgaatg	11	5	2	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:49354664A>T	ENST00000225298.7	+	7	1068	c.1011A>T	c.(1009-1011)agA>agT	p.R337S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	337					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATCAAGTGAGAGGTAAGATTT	0.413																																					p.R337S		.											.	UTP18-90	0			c.A1011T						.						110	100	103					17																	49354664		1907	4115	6022	SO:0001630	splice_region_variant	51096	exon7			AGTGAGAGGTAAG	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1012+1A>T	17.37:g.49354664A>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	81	16	NM_016001	0	0	0	3	3	Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341999	0.81911	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	D	0.98075	-4.7	5.94	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	L	0.53561	1.675	0.54753	D	0.999986	D	0.76494	0.999	D	0.69142	0.962	D	0.97802	1.0245	10	0.54805	T	0.06	-23.2376	12.5991	0.56487	0.9256:0.0:0.0744:0.0	.	337	Q9Y5J1	UTP18_HUMAN	S	337;313;47	ENSP00000225298:R337S	ENSP00000225298:R337S	R	+	3	2	UTP18	46709663	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.106000	0.71511	2.272000	0.75746	0.459000	0.35465	AGA	.		0.413	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001	Missense_Mutation	T	49354664	A	T	49354664	5	4	25	1	0	0	0	0	0	0	1	0	17147	318	11	5	1037	5	UTP18	17	49354664	Splice_Site	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	42760441	49354664	31840546	116	4330											
TRIM37	4591	broad.mit.edu	37	chr17	57139965	57139965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaaagtcctgaaactTgaagaggtggactgtaaaca	10	8	0	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:57139965T>C	ENST00000262294.7	-	11	1164	c.905A>G	c.(904-906)cAa>cGa	p.Q302R	TRIM37_ENST00000393066.3_Missense_Mutation_p.Q302R|TRIM37_ENST00000393065.2_Missense_Mutation_p.Q268R|TRIM37_ENST00000376149.3_Missense_Mutation_p.Q180R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	302	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTGAAACTTGAAGAGGTGG	0.368									Mulibrey Nanism																												p.Q302R		.											.	TRIM37-660	0			c.A905G						.						63	60	61					17																	57139965		2203	4300	6503	SO:0001583	missense	4591	exon11	Familial Cancer Database	Perheentupa syndrome	GAAACTTGAAGAG	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.905A>G	17.37:g.57139965T>C	ENSP00000262294:p.Gln302Arg	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	121	3	NM_015294	0	0	14	14	0	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.797085	0.50208	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.12746	0.255	0.58432	D	0.999995	B;P;B	0.50943	0.216;0.94;0.073	B;P;B	0.50440	0.157;0.641;0.03	T	0.26360	-1.0105	10	0.40728	T	0.16	-31.0458	15.5432	0.76074	0.0:0.0:0.0:1.0	.	268;180;302	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	R	302;302;180;268	ENSP00000376785:Q302R;ENSP00000262294:Q302R;ENSP00000365319:Q180R;ENSP00000376784:Q268R	ENSP00000262294:Q302R	Q	-	2	0	TRIM37	54494747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.880000	0.87243	2.081000	0.62600	0.528000	0.53228	CAA	.		0.368	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		C	57139965	T	C	57139965	3	2	25	1	0	0	0	0	1	0	0	0	16559	1812	63	4	2053	4	TRIM37	17	57139965	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	7785301	57139965	24055245	117	4331											
PRKAR1A	5573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	66519041	66519041	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgctgaggtctacacggagGaagatgcggcatcctatgtt	14	9	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:66519041G>T	ENST00000589228.1	+	3	450	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000588188.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.E108*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	108	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.E108*(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTACACGGAGGAAGATGCGGC	0.493			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.E108X	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	1	Substitution - Nonsense(1)	lung(1)	c.G322T						.						91	81	85					17																	66519041		2203	4300	6503	SO:0001587	stop_gained	5573	exon2	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	ACGGAGGAAGATG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.322G>T	17.37:g.66519041G>T	ENSP00000464977:p.Glu108*	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	58	36	NM_001276290	0	0	59	62	3	K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417900	0.97550	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.76	5.76	0.90799	.	0.089199	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.3028	19.946	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000351410:E108X	E	+	1	0	PRKAR1A	64030636	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.869000	0.99810	2.721000	0.93114	0.650000	0.86243	GAA	.		0.493	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			T	66519041	G	T	66519041	4	4	25	1	0	0	0	0	0	1	0	0	12545	1175	41	3	328	3	PRKAR1A	17	66519041	Nonsense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	9379076	66519041	14676169	118	4332											
DSC2	1824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	28672247	28672247	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attagatttgcagctgtaaaGcactctttcaggttaactgt	8	7	2	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr18:28672247G>T	ENST00000280904.6	-	3	614	c.171C>A	c.(169-171)tgC>tgA	p.C57*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.C57*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	57					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGCTGTAAAGCACTCTTTCA	0.358																																					p.C57X		.											.	DSC2-517	0			c.C171A						.						56	55	55					18																	28672247		2203	4298	6501	SO:0001587	stop_gained	1824	exon3			TGTAAAGCACTCT	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.171C>A	18.37:g.28672247G>T	ENSP00000280904:p.Cys57*	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	136	61	NM_024422	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857216	0.91433	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	.	.	.	5.34	1.34	0.21922	.	0.000000	0.35067	N	0.003470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3554	0.32327	0.5171:0.0:0.4829:0.0	.	.	.	.	X	57	.	ENSP00000251081:C57X	C	-	3	2	DSC2	26926245	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	0.889000	0.28282	0.295000	0.22570	0.557000	0.71058	TGC	.		0.358	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		T	28672247	G	T	28672247	4	4	25	1	0	0	0	0	0	1	0	0	4780	963	34	3	2630	3	DSC2	18	28672247	Nonsense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		28672247	49405001	119	4333											
DOHH	83475	hgsc.bcm.edu	37	chr19	3492318	3492318	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcagggcgaacatggcGcggtatcgctcgaagagcgg	17	10	0	1	rs78287632	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:3492318G>C	ENST00000427575.1	-	4	982	c.531C>G	c.(529-531)cgC>cgG	p.R177R	DOHH_ENST00000250937.3_Silent_p.R177R	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAACATGGCGCGGTATCGCT	0.741													G|||	93	0.0185703	0.0227	0.013	5008	,	,		12700	0		0.0298	False		,,,				2504	0.0245				p.R177R		.											.	DOHH-90	0			c.C531G						.	G	,	68,4070		0,68,2001	5	7	6		531,531	-7.8	0.8	19	dbSNP_132	6	159,7969		1,157,3906	no	coding-synonymous,coding-synonymous	DOHH	NM_001145165.1,NM_031304.4	,	1,225,5907	CC,CG,GG		1.9562,1.6433,1.8506	,	177/303,177/303	3492318	227,12039	2069	4064	6133	SO:0001819	synonymous_variant	83475	exon4			CATGGCGCGGTAT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.531C>G	19.37:g.3492318G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_001145165	0	0	7	17	10		Silent	SNP	ENST00000427575.1	37	CCDS12108.1																																																																																			G|0.979;C|0.021		0.741	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		C	3492318	G	C	3492318	2	2	25	1	0	0	0	0	0	0	0	1	4709	1074	38	2		2	DOHH	19	3492318	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		3492318	55636665	120	4334											
CREB3L3	84699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	4171861	4171861	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctggtcctgaggaaTgcaacagaggggctgggcca	15	12	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:4171861T>A	ENST00000078445.2	+	10	1428	c.1281T>A	c.(1279-1281)aaT>aaA	p.N427K	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.N425K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N426K|CREB3L3_ENST00000252587.3_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	427					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGAGGAATGCAACAGAGG	0.687																																					p.N427K		.											.	CREB3L3-92	0			c.T1281A						.						24	26	25					19																	4171861		2202	4294	6496	SO:0001583	missense	84699	exon10			GAGGAATGCAACA		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1281T>A	19.37:g.4171861T>A	ENSP00000078445:p.Asn427Lys	Somatic	144	1		WXS	Illumina GAIIx	Phase_I	187	26	NM_032607	0	0	0	0	0	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598411	0.46318	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.85773	-2.03	3.27	2.13	0.27403	.	0.740781	0.12485	N	0.464801	T	0.74481	0.3722	L	0.32530	0.975	0.09310	N	0.999993	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.36186	0.109;0.219;0.109	T	0.66180	-0.5988	10	0.72032	D	0.01	-40.2085	6.4549	0.21924	0.0:0.8612:0.0:0.1388	.	425;426;427	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	K	427;385	ENSP00000078445:N427K	ENSP00000078445:N427K	N	+	3	2	CREB3L3	4122861	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.621000	0.05559	0.928000	0.37168	-0.337000	0.08149	AAT	.		0.687	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		A	4171861	T	A	4171861	3	1	25	1	0	0	0	0	1	0	0	0	3865	1461	51	5	1319	5	CREB3L3	19	4171861	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	679543	4171861	54957122	121	4335											
PLIN5	440503	hgsc.bcm.edu	37	chr19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcgggcaggccccGcacgctggactccagagcct	16	17	0	1	rs1062223	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3	4	4		916	4.6	1	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_001013706	0	0	0	2	2	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		A	4524016	G	A	4524016	3	1	25	1	0	0	0	0	1	0	0	0	12132	1086	38	1	479	1	PLIN5	19	4524016	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	352155	4524016	54604967	122	4336											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_012088	0	0	0	28	28		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	25	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	13098598	17622614	41506369	123	4337											
PRX	57716	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	40909675	40909676	+	Frame_Shift_Del	DEL	CC	CC	-													gcagctcccgaacgaagattCcctctttgccgccgcccgct							TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:40909675_40909676delCC	ENST00000324001.7	-	5	391_392	c.121_122delGG	c.(121-123)ggafs	p.G41fs	PRX_ENST00000291825.7_Frame_Shift_Del_p.G41fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	41	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACGAAGATTCCCTCTTTGCCG	0.688																																					p.41_41del		.											.	PRX-92	0			c.121_122del						.																																			SO:0001589	frameshift_variant	57716	exon5			AAGATTCCCTCTT	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.121_122delGG	19.37:g.40909675_40909676delCC	ENSP00000326018:p.Gly41fs	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	114	42	NM_181882	0	0	0	0	0	Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL	ENST00000324001.7	37	CCDS33028.1																																																																																			.		0.688	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		-	40909676	CC	-	40909675	7	5	25	1	0	1	0	1	0	0	0	0	12684	855	30	0	4338	0	PRX	19	40909675	Frame_Shift_Del	DEL	CC	TCGA-OR-A5JY-01A-31D-A29I-10	23287061	40909675	18219308	124	4338											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	25	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	6217649	47127324	12001659	125	4339											
PLA2G4C	8605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	48601409	48601409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttacctggtgctcttgcCtcctgccaggaaggttgcag	12	12	1	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:48601409C>T	ENST00000599921.1	-	6	912	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLA2G4C_ENST00000413144.2_Silent_p.E185E|PLA2G4C_ENST00000599111.1_Silent_p.E195E|PLA2G4C_ENST00000354276.3_Silent_p.E185E			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	185	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)		GTGCTCTTGCCTCCTGCCAGG	0.502																																					p.E195E		.											.	PLA2G4C-92	0			c.G585A						.						164	134	144					19																	48601409		2203	4300	6503	SO:0001819	synonymous_variant	8605	exon6			TCTTGCCTCCTGC	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.555G>A	19.37:g.48601409C>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	155	43	NM_001159322	0	0	0	0	0	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																			.		0.502	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48601409	C	T	48601409	2	4	25	1	0	0	0	0	0	0	0	1	12042	680	24	3		3	PLA2G4C	19	48601409	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	1474085	48601409	10527574	126	4340											
PRR12	57479	hgsc.bcm.edu	37	chr19	50100554	50100554	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccccggcccccctgcttatGatccctatgggccctactgt	8	19	0	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:50100554G>C	ENST00000418929.2	+	4	2974	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTGCTTATGATCCCTATGG	0.736																																					p.D988H		.											.	PRR12-70	0			c.G2962C						.						3	4	4					19																	50100554		1585	3699	5284	SO:0001583	missense	57479	exon4			GCTTATGATCCCT	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2962G>C	19.37:g.50100554G>C	ENSP00000394510:p.Asp988His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	6	NM_020719	0	0	9	9	0	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567920	0.28003	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.25414	1.8	4.79	4.79	0.61399	.	0.000000	0.45126	D	0.000382	T	0.34279	0.0892	N	0.20685	0.6	0.49051	D	0.999748	D	0.89917	1.0	D	0.91635	0.999	T	0.05699	-1.0869	10	0.28530	T	0.3	-21.245	14.8476	0.70272	0.0:0.0:1.0:0.0	.	988	Q9ULL5-3	.	H	988;168;168	ENSP00000394510:D988H	ENSP00000246798:D168H	D	+	1	0	PRR12	54792366	0.986000	0.35501	0.979000	0.43373	0.599000	0.36880	2.157000	0.42320	2.476000	0.83614	0.491000	0.48974	GAT	.		0.736	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		C	50100554	G	C	50100554	3	2	25	1	0	0	0	0	1	0	0	0	12626	1290	45	3	2976	3	PRR12	19	50100554	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	1499145	50100554	9028429	127	4341											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	20	11	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		Somatic	34	1		WXS	Illumina GAIIx	Phase_I	75	24	NM_007254	0	0	39	41	2	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		C	50370408	T	C	50370408	2	2	25	1	0	0	0	0	0	0	0	1	12186	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	269854	50370408	8758575	128	4342											
RNF24	11237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	3954983	3954983	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagactgaatacttacccccCtaagaccgggaacaaggcag	9	12	0	3			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:3954983C>A	ENST00000336095.6	-	2	245				RNF24_ENST00000358395.6_Intron|RNF24_ENST00000432261.2_Missense_Mutation_p.G18W|RNF24_ENST00000545616.2_Missense_Mutation_p.G18W	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						acttacccccctaagaccggg	0.378																																					p.G18W		.											.	RNF24-226	0			c.G52T						.						73	67	69					20																	3954983		692	1591	2283	SO:0001627	intron_variant	11237	exon2			ACCCCCCTAAGAC	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"RING-type (C3HC4) zinc fingers"	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.7-10312G>T	20.37:g.3954983C>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	49	10	NM_001134338	0	0	0	0	0	D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557581	0.27827	.	.	ENSG00000101236	ENST00000545616;ENST00000432261	T;T	0.37584	1.19;1.19	0.149	0.149	0.14863	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.22226	N	0.999278	D	0.76494	0.999	D	0.74674	0.984	T	0.35351	-0.9792	7	0.66056	D	0.02	.	.	.	.	.	18	Q9Y225-2	.	W	18	ENSP00000444711:G18W;ENSP00000388550:G18W	ENSP00000388550:G18W	G	-	1	0	RNF24	3902983	0.990000	0.36364	0.935000	0.37517	0.936000	0.57629	0.281000	0.18810	0.192000	0.20272	0.195000	0.17529	GGG	.		0.378	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			A	3954983	C	A	3954983	1	1	25	0	1	0	0	0	0	0	0	0	13529	681	24	3		3	RNF24	20	3954983	Intron	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		3954983	59070537	129	4343											
TPX2	22974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	30388862	30388862	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcctgtatctcccaaattCtccactcgattccactgcta	5	15	2	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:30388862C>T	ENST00000300403.6	+	18	2751	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	TPX2_ENST00000340513.4_Silent_p.F777F	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	741					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTCCCAAATTCTCCACTCGAT	0.502																																					p.F741F		.											.	TPX2-290	0			c.C2223T						.						151	129	137					20																	30388862		2203	4300	6503	SO:0001819	synonymous_variant	22974	exon18			CAAATTCTCCACT	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2223C>T	20.37:g.30388862C>T		Somatic	225	0		WXS	Illumina GAIIx	Phase_I	186	45	NM_012112	0	0	32	43	11	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	ENST00000300403.6	37	CCDS13190.1																																																																																			.		0.502	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			T	30388862	C	T	30388862	2	4	25	1	0	0	0	0	0	0	0	1	16480	912	32	3		3	TPX2	20	30388862	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	26433879	30388862	32636658	130	4344											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348735	43348735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcaggacccggtggCcggggggccctgtgcctctg	19	15	1	0	rs2296530	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_003881	0	0	7	19	12	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	25	1	0	0	0	0	0	0	0	1	17422	726	26	3		3	WISP2	20	43348735	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	12959873	43348735	19676785	131	4345											
PABPC1L	80336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43550237	43550237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcctttccccaggcCgtggtccatatgaacgggaa	9	16	0	1	rs556604143		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:43550237C>T	ENST00000217073.2	+	6	741	c.741C>T	c.(739-741)gcC>gcT	p.A247A	PABPC1L_ENST00000537323.1_Silent_p.A247A|PABPC1L_ENST00000255136.3_Silent_p.A247A|PABPC1L_ENST00000217074.4_Silent_p.A247A			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TTCCCCAGGCCGTGGTCCATA	0.622																																					p.A247A		.											.	PABPC1L-47	0			c.C741T						.						102	101	101					20																	43550237		1568	3582	5150	SO:0001819	synonymous_variant	80336	exon6			CCAGGCCGTGGTC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.741C>T	20.37:g.43550237C>T		Somatic	157	0		WXS	Illumina GAIIx	Phase_I	143	55	NM_001124756	0	0	0	0	0	Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1																																																																																			.		0.622	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			T	43550237	C	T	43550237	2	4	25	1	0	0	0	0	0	0	0	1	11403	639	23	1		1	PABPC1L	20	43550237	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	201502	43550237	19475283	132	4346											
PRIC285	85441	hgsc.bcm.edu	37	chr20	62194713	62194713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggccgtctccacggccAgggtgtgtgggtccggcaca	16	13	1	0	rs3810486	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:62194713A>C	ENST00000467148.1	-	8	5531	c.5462T>G	c.(5461-5463)cTg>cGg	p.L1821R	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1252R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1821			L -> R (in dbSNP:rs3810486).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCACGGCCAGGGTGTGTGG	0.726													C|||	1226	0.244808	0.0575	0.1023	5008	,	,		15371	0.5923		0.1948	False		,,,				2504	0.2924				p.L1821R		.											.	.	0			c.T5462G						.	C	ARG/LEU,ARG/LEU	196,3498		4,188,1655	3	3	3		5462,3755	-2.5	0	20	dbSNP_107	3	895,6669		51,793,2938	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	102,102	55,981,4593	CC,CA,AA		11.8324,5.3059,9.6909	benign,benign	1821/2650,1252/2081	62194713	1091,10167	1847	3782	5629	SO:0001583	missense	85441	exon9			ACGGCCAGGGTGT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5462T>G	20.37:g.62194713A>C	ENSP00000417401:p.Leu1821Arg	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_001037335	0	0	4	8	4	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	575	0.2632783882783883	23	0.046747967479674794	44	0.12154696132596685	352	0.6153846153846154	156	0.20580474934036938	C	7.173	0.588046	0.13812	0.053059	0.118324	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79033	-1.23;-1.15	4.54	-2.49	0.06403	.	2.710140	0.01204	N	0.007649	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	9	0.18710	T	0.47	0.0741	1.1162	0.01714	0.3228:0.32:0.1009:0.2562	rs3810486	1821;1252	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	1252;1821	ENSP00000393257:L1252R;ENSP00000417401:L1821R	ENSP00000393257:L1252R	L	-	2	0	RP4-697K14.7	61665157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.351000	0.08249	-0.323000	0.08544	CTG	A|0.739;C|0.261		0.726	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62194713	A	C	62194713	3	2	25	1	0	0	0	0	1	0	0	0	12527	188	7	5	2535	5	PRIC285	20	62194713	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	18644476	62194713	830807	133	4347											
MYT1	4661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62839773	62839773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgagcagagccagctGggcctgggagagccagggaa	17	12	0	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:62839773G>T	ENST00000328439.1	+	7	1588	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.L408L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGCCAGCTGGGCCTGGGAG	0.662																																					p.L408L	GBM(59;481 1041 20555 21139 33705)	.											.	MYT1-704	0			c.G1224T						.						21	22	22					20																	62839773		2202	4296	6498	SO:0001819	synonymous_variant	4661	exon7			CCAGCTGGGCCTG	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1224G>T	20.37:g.62839773G>T		Somatic	204	0		WXS	Illumina GAIIx	Phase_I	165	39	NM_004535	0	0	0	0	0	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																			.		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62839773	G	T	62839773	2	4	25	1	0	0	0	0	0	0	0	1	10144	1335	47	3		3	MYT1	20	62839773	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	645060	62839773	185747	134	4348											
KRTAP13-1	140258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	31768658	31768658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctaccgtcccagaaCctccttgctctgcagtccct	6	19	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:31768658C>A	ENST00000355459.2	+	1	267	c.254C>A	c.(253-255)aCc>aAc	p.T85N		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	85	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGTCCCAGAACCTCCTTGCTC	0.607																																					p.T85N		.											.	KRTAP13-1-91	0			c.C254A						.						68	68	68					21																	31768658		2203	4300	6503	SO:0001583	missense	140258	exon1			CCAGAACCTCCTT	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.254C>A	21.37:g.31768658C>A	ENSP00000347635:p.Thr85Asn	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	129	32	NM_181599	0	0	0	0	0	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	7.636	0.679936	0.14907	.	.	ENSG00000198390	ENST00000355459	T	0.03413	3.94	4.51	1.02	0.19986	.	1.383020	0.05069	N	0.481294	T	0.12008	0.0292	L	0.52759	1.655	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.29458	-1.0011	10	0.33940	T	0.23	.	6.5072	0.22202	0.0:0.3691:0.4888:0.1421	.	85	Q8IUC0	KR131_HUMAN	N	85	ENSP00000347635:T85N	ENSP00000347635:T85N	T	+	2	0	KRTAP13-1	30690529	0.000000	0.05858	0.004000	0.12327	0.105000	0.19272	-0.964000	0.03833	0.187000	0.20147	0.557000	0.71058	ACC	.		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			A	31768658	C	A	31768658	3	1	25	1	0	0	0	0	1	0	0	0	8549	507	18	3	256	3	KRTAP13-1	21	31768658	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		31768658	16361237	135	4349											
SON	6651	ucsc.edu	37	chr21	34923319	34923319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcaactggggcactAgagttgcctgggccgctcat	14	12	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:34923319A>G	ENST00000356577.4	+	3	2257	c.1782A>G	c.(1780-1782)ctA>ctG	p.L594L	SON_ENST00000381679.4_Silent_p.L594L|SON_ENST00000300278.4_Silent_p.L594L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.L594L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	594					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						CTGGGGCACTAGAGTTGCCTG	0.662																																					p.L594L		.											.	SON-97	0			c.A1782G						.						29	35	33					21																	34923319		2201	4295	6496	SO:0001819	synonymous_variant	6651	exon3			GGCACTAGAGTTG	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.1782A>G	21.37:g.34923319A>G		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	83	1	NM_032195	0	0	12	12	0	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1																																																																																			.		0.662	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34923319	A	G	34923319	2	3	25	1	0	0	0	0	0	0	0	1	14971	407	15	4		4	SON	21	34923319	Silent	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	3154661	34923319	13206576	136	4350											
DNMT3L	29947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45666395	45666395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcttcgagctctgcttgTtctgggccagcagggacaat	13	11	2	0	rs377689260		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:45666395T>C	ENST00000418993.1	-	12	1529	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N350S	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	349					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCTCTGCTTGTTCTGGGCCAG	0.552																																					p.N350S		.											.	DNMT3L-228	0			c.A1049G						.						44	43	43					21																	45666395		2203	4300	6503	SO:0001583	missense	29947	exon12			TGCTTGTTCTGGG	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1046A>G	21.37:g.45666395T>C	ENSP00000412862:p.Asn349Ser	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	135	35	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.553|4.553	0.102767|0.102767	0.08731|0.08731	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.28454|.	1.61;1.61|.	4.17|4.17	1.66|1.66	0.24008|0.24008	.|.	0.635955|.	0.15561|.	N|.	0.255913|.	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.22109|.	T|.	0.4|.	-12.5196|-12.5196	3.1276|3.1276	0.06412|0.06412	0.2191:0.1196:0.0:0.6613|0.2191:0.1196:0.0:0.6613	.|.	350;349|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	S|A	350;349|144	ENSP00000270172:N350S;ENSP00000412862:N349S|.	ENSP00000270172:N350S|.	N|T	-|-	2|1	0|0	DNMT3L|DNMT3L	44490823|44490823	0.020000|0.020000	0.18652|0.18652	0.012000|0.012000	0.15200|0.15200	0.131000|0.131000	0.20780|0.20780	0.611000|0.611000	0.24268|0.24268	0.117000|0.117000	0.18138|0.18138	0.533000|0.533000	0.62120|0.62120	AAC|ACA	.		0.552	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		C	45666395	T	C	45666395	3	2	25	1	0	0	0	0	1	0	0	0	4692	1725	60	4	118	4	DNMT3L	21	45666395	Missense_Mutation	SNP	T	TCGA-OR-A5JY-01A-31D-A29I-10	10743076	45666395	2463500	137	4351											
PLA2G3	50487	bcgsc.ca	37	chr22	31532960	31532960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggaactcgatttccCggggcccaatctggtgctca	12	13	2	0	rs2232183	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:31532960C>T	ENST00000215885.3	-	5	1385	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	378			R -> Q (in dbSNP:rs2232183).		acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CTCGATTTCCCGGGGCCCAAT	0.662													T|||	670	0.133786	0.0772	0.1657	5008	,	,		17246	0.0238		0.2505	False		,,,				2504	0.181				p.R378Q		.											.	PLA2G3-226	0			c.G1133A						.	T	GLN/ARG	460,3934		30,400,1767	36	36	36		1133	2.3	1	22	dbSNP_98	36	2196,6386		287,1622,2382	yes	missense	PLA2G3	NM_015715.3	43	317,2022,4149	TT,TC,CC		25.5884,10.4688,20.4686	benign	378/510	31532960	2656,10320	2197	4291	6488	SO:0001583	missense	50487	exon5			ATTTCCCGGGGCC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1133G>A	22.37:g.31532960C>T	ENSP00000215885:p.Arg378Gln	Somatic	165	1		WXS	Illumina GAIIx	Phase_I	177	6	NM_015715	0	0	0	0	0	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	321	0.14697802197802198	42	0.08536585365853659	72	0.19889502762430938	17	0.02972027972027972	190	0.25065963060686014	T	2.164	-0.391533	0.04932	0.104688	0.255884	ENSG00000100078	ENST00000215885	T	0.28255	1.62	5.62	2.33	0.28932	Phospholipase A2 (2);	0.413631	0.24370	N	0.039117	T	0.00012	0.0000	N	0.00358	-1.6	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42481	-0.9449	9	0.02654	T	1	-0.8315	8.7555	0.34643	0.0:0.2921:0.0:0.7079	rs2232183;rs17760495;rs52823364;rs57463724;rs2232183	378	Q9NZ20	PA2G3_HUMAN	Q	378	ENSP00000215885:R378Q	ENSP00000215885:R378Q	R	-	2	0	PLA2G3	29862960	0.072000	0.21174	0.993000	0.49108	0.312000	0.27988	0.110000	0.15437	0.111000	0.17947	-1.062000	0.02293	CGG	C|0.845;T|0.155		0.662	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		T	31532960	C	T	31532960	3	4	25	1	0	0	0	0	1	0	0	0	12039	652	23	1	408	1	PLA2G3	22	31532960	Missense_Mutation	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10		31532960	19771606	138	4352											
A4GALT	53947	ucsc.edu;bcgsc.ca	37	chr22	43089055	43089055	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgcggcagctcctcGgggttgatgtcctcaaagta	13	12	1	1	rs6002904	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:43089055G>C	ENST00000401850.1	-	2	1392	c.903C>G	c.(901-903)ccC>ccG	p.P301P	A4GALT_ENST00000249005.2_Silent_p.P301P|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Silent_p.P301P			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	301					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCAGCTCCTCGGGGTTGATGT	0.662													G|||	3482	0.695288	0.8608	0.6052	5008	,	,		16794	0.7063		0.5915	False		,,,				2504	0.6309				p.P301P		.											.	A4GALT-90	0			c.C903G	GRCh37	CD045904	A4GALT	D	rs6002904	.	G		3610,794	747.2+/-411.8	1487,636,79	65	53	57		903	0.5	0.9	22	dbSNP_114	57	4885,3715	616.0+/-396.4	1371,2143,786	no	coding-synonymous	A4GALT	NM_017436.4		2858,2779,865	CC,CG,GG		43.1977,18.0291,34.6739		301/354	43089055	8495,4509	2202	4300	6502	SO:0001819	synonymous_variant	53947	exon3			CTCCTCGGGGTTG		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.903C>G	22.37:g.43089055G>C		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_017436	0	0	4	4	0	B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	CCDS14041.1																																																																																			G|0.333;C|0.667		0.662	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		C	43089055	G	C	43089055	2	2	25	1	0	0	0	0	0	0	0	1	6	1103	39	2		2	A4GALT	22	43089055	Silent	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	11556095	43089055	8215511	139	4353											
ARFGAP3	26286	ucsc.edu;bcgsc.ca	37	chr22	43203137	43203137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttatggaggaacttgcCgacagcctctctaggcgggc	14	11	1	0	rs738535	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:43203137C>T	ENST00000263245.5	-	14	1572	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S	ARFGAP3_ENST00000437119.2_Silent_p.S407S|ARFGAP3_ENST00000429508.2_Silent_p.S379S	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	451					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						AGGAACTTGCCGACAGCCTCT	0.522													C|||	1553	0.310104	0.289	0.366	5008	,	,		17906	0.0853		0.4364	False		,,,				2504	0.4008				p.S451S	GBM(58;544 1030 21460 27159 48838)	.											.	ARFGAP3-153	0			c.G1353A						.	C	,	1535,2871	481.0+/-359.0	273,989,941	41	35	37		1221,1353	-6.2	0	22	dbSNP_86	37	3892,4708	533.8+/-382.5	907,2078,1315	no	coding-synonymous,coding-synonymous	ARFGAP3	NM_001142293.1,NM_014570.4	,	1180,3067,2256	TT,TC,CC		45.2558,34.8389,41.7269	,	407/473,451/517	43203137	5427,7579	2203	4300	6503	SO:0001819	synonymous_variant	26286	exon14			ACTTGCCGACAGC	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1353G>A	22.37:g.43203137C>T		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	55	5	NM_014570	0	0	70	70	0	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Silent	SNP	ENST00000263245.5	37	CCDS14042.1	651	0.2980769230769231	145	0.29471544715447157	149	0.4116022099447514	36	0.06293706293706294	321	0.4234828496042216	C	0.050	-1.253780	0.01457	0.348389	0.452558	ENSG00000242247	ENST00000453516	.	.	.	4.94	-6.15	0.02105	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20403	P	0.9999019985	.	.	.	.	.	.	T	0.48801	-0.9003	3	.	.	.	-8.7248	1.6031	0.02679	0.3155:0.3219:0.2148:0.1478	rs738535;rs1044700;rs3171717;rs17405155;rs17409171;rs17849916;rs60500703;rs738535	.	.	.	S	254	.	.	G	-	1	0	ARFGAP3	41533081	0.156000	0.22821	0.015000	0.15790	0.006000	0.05464	-0.630000	0.05502	-0.428000	0.07339	-0.923000	0.02734	GGC	C|0.641;T|0.359		0.522	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		T	43203137	C	T	43203137	2	4	25	1	0	0	0	0	0	0	0	1	851	639	23	1		1	ARFGAP3	22	43203137	Silent	SNP	C	TCGA-OR-A5JY-01A-31D-A29I-10	114082	43203137	8101429	140	4354											
LDOC1L	84247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	44893294	44893294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagattggccttctccGcccgcagggtggaagcctcc	14	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:44893294G>A	ENST00000341255.3	-	2	652	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	48										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)		GGCCTTCTCCGCCCGCAGGGT	0.642																																					p.A48V		.											.	LDOC1L-69	0			c.C143T						.						37	33	34					22																	44893294		2202	4300	6502	SO:0001583	missense	84247	exon2			TTCTCCGCCCGCA	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.143C>T	22.37:g.44893294G>A	ENSP00000340434:p.Ala48Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	35	31	NM_032287	1	0	0	6	5	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656262	0.67586	.	.	ENSG00000188636	ENST00000341255	T	0.20200	2.09	3.1	3.1	0.35709	.	0.566220	0.13380	N	0.392205	T	0.19805	0.0476	N	0.08118	0	0.29307	N	0.868281	D	0.71674	0.998	P	0.60345	0.873	T	0.05971	-1.0853	10	0.30854	T	0.27	-13.001	9.945	0.41602	0.0:0.0:1.0:0.0	.	48	Q6ICC9	LDOCL_HUMAN	V	48	ENSP00000340434:A48V	ENSP00000340434:A48V	A	-	2	0	LDOC1L	43271958	0.479000	0.25925	0.811000	0.32455	0.946000	0.59487	2.302000	0.43637	2.051000	0.60960	0.467000	0.42956	GCG	.		0.642	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		A	44893294	G	A	44893294	3	1	25	1	0	0	0	0	1	0	0	0	8738	1087	38	1	580	1	LDOC1L	22	44893294	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	1690157	44893294	6411272	141	4355											
CSF2RA	1438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	1413336	1413336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctggactttcagtaccaGctggacgtccacagaaaggt	10	11	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:1413336G>T	ENST00000381524.3	+	8	948	c.762G>T	c.(760-762)caG>caT	p.Q254H	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q254H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q254H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q254H|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q254H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q121H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	254	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCAGTACCAGCTGGACGTCC	0.627																																					p.Q254H	Esophageal Squamous(131;723 1707 25334 40494 41806)	.											.	CSF2RA-42	0			c.G762T						.						222	182	196					X																	1413336		2203	4296	6499	SO:0001583	missense	1438	exon6			GTACCAGCTGGAC	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.762G>T	X.37:g.1413336G>T	ENSP00000370935:p.Gln254His	Somatic	702	2		WXS	Illumina GAIIx	Phase_I	693	303	NM_172247	0	0	2	2	0	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785338	0.31593	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	1.54	0.568	0.17333	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.114434	0.34986	U	0.003524	D	0.87989	0.6317	.	.	.	0.09310	N	1	D;D;D;D;D	0.71674	0.998;0.996;0.998;0.998;0.996	D;P;D;D;P	0.69479	0.951;0.894;0.964;0.927;0.894	T	0.78046	-0.2357	9	0.72032	D	0.01	.	4.0106	0.09621	0.26:0.0:0.74:0.0	.	254;254;254;254;254	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	254;254;254;254;121;254;254;254;254;254	ENSP00000370940:Q254H;ENSP00000416437:Q254H;ENSP00000354836:Q254H;ENSP00000440491:Q121H;ENSP00000370935:Q254H;ENSP00000370920:Q254H;ENSP00000347606:Q254H;ENSP00000394227:Q254H;ENSP00000370911:Q254H	ENSP00000347606:Q254H	Q	+	3	2	CSF2RA	1373336	0.095000	0.21747	0.926000	0.36857	0.307000	0.27823	0.412000	0.21131	-0.018000	0.14079	0.100000	0.15512	CAG	.		0.627	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1413336	G	T	1413336	3	4	25	1	0	0	0	0	1	0	0	0	3943	962	34	3	784	3	CSF2RA	23	1413336	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10		1413336	153857224	142	4356											
DDX53	168400	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23018850	23018850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgcaggtttaaagacGcttttcagcaataccctgat	7	10	1	2			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:23018850G>A	ENST00000327968.5	+	1	764	c.676G>A	c.(676-678)Gct>Act	p.A226T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	226						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						GTTTAAAGACGCTTTTCAGCA	0.403																																					p.A226T		.											.	DDX53-228	0			c.G676A						.						69	66	67					X																	23018850		2203	4300	6503	SO:0001583	missense	168400	exon1			AAAGACGCTTTTC	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.676G>A	X.37:g.23018850G>A	ENSP00000368667:p.Ala226Thr	Somatic	234	1		WXS	Illumina GAIIx	Phase_I	340	99	NM_182699	0	0	0	0	0	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017821	0.75161	.	.	ENSG00000184735	ENST00000327968	T	0.23348	1.91	3.87	3.87	0.44632	RNA helicase, DEAD-box type, Q motif (1);	0.120378	0.56097	D	0.000037	T	0.46288	0.1385	M	0.67397	2.05	0.49389	D	0.999785	D	0.89917	1.0	D	0.69479	0.964	T	0.50021	-0.8876	10	0.87932	D	0	-9.5282	12.7011	0.57034	0.0:0.0:1.0:0.0	.	226	Q86TM3	DDX53_HUMAN	T	226	ENSP00000368667:A226T	ENSP00000368667:A226T	A	+	1	0	DDX53	22928771	1.000000	0.71417	0.149000	0.22428	0.008000	0.06430	7.781000	0.85668	1.936000	0.56123	0.600000	0.82982	GCT	.		0.403	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23018850	G	A	23018850	3	1	25	1	0	0	0	0	1	0	0	0	4380	1087	38	1	678	1	DDX53	23	23018850	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	21605514	23018850	132251710	143	4357											
GPR173	54328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53106284	53106284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggccttcccacctgtctttGacgtgggcacctacaagttt	9	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:53106284G>C	ENST00000332582.4	+	2	972	c.481G>C	c.(481-483)Gac>Cac	p.D161H		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	161					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCTGTCTTTGACGTGGGCAC	0.567																																					p.D161H		.											.	GPR173-130	0			c.G481C						.						52	44	47					X																	53106284		2203	4300	6503	SO:0001583	missense	54328	exon2			GTCTTTGACGTGG	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.481G>C	X.37:g.53106284G>C	ENSP00000331600:p.Asp161His	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	247	49	NM_018969	0	0	0	0	0	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235616	0.58886	.	.	ENSG00000184194	ENST00000332582	T	0.71579	-0.58	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82932	-0.0212	10	0.72032	D	0.01	-8.2243	13.0854	0.59138	0.0:0.0:1.0:0.0	.	161	Q9NS66	GP173_HUMAN	H	161	ENSP00000331600:D161H	ENSP00000331600:D161H	D	+	1	0	GPR173	53123009	1.000000	0.71417	0.929000	0.37066	0.918000	0.54935	7.803000	0.85983	1.941000	0.56285	0.529000	0.55759	GAC	.		0.567	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		C	53106284	G	C	53106284	3	2	25	1	0	0	0	0	1	0	0	0	6697	1290	45	3	483	3	GPR173	23	53106284	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	30087434	53106284	102164276	144	4358											
AR	367	hgsc.bcm.edu	37	chrX	66765164	66765164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgctgctgctgcagcAgcagcagcagcagcagcagc	13	13	0	0			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L|AR_ENST00000504326.1_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q59L		.											.	AR-661	0			c.A176T						.						7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	X.37:g.66765164A>T	ENSP00000363822:p.Gln59Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	72	8	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG	.		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	25	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-OR-A5JY-01A-31D-A29I-10	13658880	66765164	88505396	145	4359											
YIPF6	286451	broad.mit.edu;bcgsc.ca	37	chrX	67718936	67718936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcggaggagtctccaggaGacccggggacagcatcgccc	15	13	1	1			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:67718936G>A	ENST00000462683.1	+	1	772	c.28G>A	c.(28-30)Gac>Aac	p.D10N	YIPF6_ENST00000374622.2_Missense_Mutation_p.D10N|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	10					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTCTCCAGGAGACCCGGGGAC	0.662																																					p.D10N		.											.	YIPF6-130	0			c.G28A						.						32	31	32					X																	67718936		2186	4284	6470	SO:0001583	missense	286451	exon1			CCAGGAGACCCGG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.28G>A	X.37:g.67718936G>A	ENSP00000417573:p.Asp10Asn	Somatic	344	1		WXS	Illumina GAIIx	Phase_I	341	10	NM_001195214	0	0	35	35	0	B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813477	0.50527	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.58506	0.95;0.34;0.33	4.63	3.74	0.42951	.	0.748576	0.13689	N	0.369679	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.25405	0.06;0.027	T	0.28004	-1.0057	10	0.87932	D	0	-13.5601	9.4308	0.38608	0.0:0.2101:0.7899:0.0	.	10;10	G5E997;Q96EC8	.;YIPF6_HUMAN	N	10	ENSP00000417573:D10N;ENSP00000401799:D10N;ENSP00000363751:D10N	ENSP00000363751:D10N	D	+	1	0	YIPF6	67635661	0.991000	0.36638	0.060000	0.19600	0.962000	0.63368	1.359000	0.34113	1.250000	0.43966	0.600000	0.82982	GAC	.		0.662	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		A	67718936	G	A	67718936	3	1	25	1	0	0	0	0	1	0	0	0	17531	942	33	3	30	3	YIPF6	23	67718936	Missense_Mutation	SNP	G	TCGA-OR-A5JY-01A-31D-A29I-10	953772	67718936	87551624	146	4360											
CCDC27	148870	hgsc.bcm.edu	37	chr1	3683112	3683112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttccagttctccaacctccGagaagataagaaacaccaag	6	13	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:3683112G>T	ENST00000294600.2	+	9	1550	c.1466G>T	c.(1465-1467)cGa>cTa	p.R489L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	489										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCCAACCTCCGAGAAGATAAG	0.502																																					p.R489L		.											.	CCDC27-91	0			c.G1466T						.						70	68	69					1																	3683112		2202	4300	6502	SO:0001583	missense	148870	exon9			ACCTCCGAGAAGA		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1466G>T	1.37:g.3683112G>T	ENSP00000294600:p.Arg489Leu	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_152492	0	0	0	0	0	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352580	0.61293	.	.	ENSG00000162592	ENST00000294600	T	0.32753	1.44	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000093	T	0.45155	0.1328	L	0.36672	1.1	0.43924	D	0.996572	D	0.89917	1.0	D	0.87578	0.998	T	0.34950	-0.9808	10	0.52906	T	0.07	-24.5281	13.9664	0.64211	0.0:0.0:1.0:0.0	.	489	Q2M243	CCD27_HUMAN	L	489	ENSP00000294600:R489L	ENSP00000294600:R489L	R	+	2	0	CCDC27	3672972	1.000000	0.71417	0.918000	0.36340	0.585000	0.36419	4.987000	0.63857	2.341000	0.79615	0.591000	0.81541	CGA	.		0.502	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		T	3683112	G	T	3683112	3	4	26	1	0	0	0	0	1	0	0	0	2808	1058	37	2	1500	2	CCDC27	1	3683112	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		3683112	245567509	1	4361											
HNRNPCL1	343069	hgsc.bcm.edu;bcgsc.ca	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagctggtcatcccccTgatcttcattaacatcatca	4	15	5	1	rs74587302|rs559905244	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	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		.											.	HNRNPCL1-68	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	Somatic	77	1		WXS	Illumina GAIIx	Phase_I	119	9	NM_001013631	0	0	0	0	0	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	26	1	0	0	0	0	1	0	0	0	7290	1580	55	4	98	4	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	9224246	12907358	236343263	2	4362											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	26	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	16231617	29138975	220111646	3	4363											
DLGAP3	58512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	35365799	35365799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctttgatgtagctgcCgctccgcatcctgcggcagg	13	13	0	1	rs140339373		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:35365799C>T	ENST00000373347.1	-	4	1451	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G395S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	395					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)				ATGTAGCTGCCGCTCCGCATC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17563	0.001		0	False		,,,				2504	0				p.G395S		.											.	DLGAP3-71	0			c.G1183A						.						100	99	99					1																	35365799		2203	4300	6503	SO:0001583	missense	58512	exon2			AGCTGCCGCTCCG	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.1183G>A	1.37:g.35365799C>T	ENSP00000362444:p.Gly395Ser	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	147	49	NM_001080418	0	0	1	4	3	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.112117	0.94339	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.23348	1.91;1.91	4.44	4.44	0.53790	.	0.053869	0.85682	D	0.000000	T	0.45558	0.1348	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.44877	-0.9299	10	0.62326	D	0.03	-16.0822	17.2399	0.87010	0.0:1.0:0.0:0.0	.	395	O95886	DLGP3_HUMAN	S	395;395;78	ENSP00000362444:G395S;ENSP00000235180:G395S	ENSP00000235180:G395S	G	-	1	0	DLGAP3	35138386	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.584000	0.82572	2.296000	0.77279	0.313000	0.20887	GGC	C|0.999;T|0.000		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35365799	C	T	35365799	3	4	26	1	0	0	0	0	1	0	0	0	4575	652	23	1	1792	1	DLGAP3	1	35365799	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	6226824	35365799	213884822	4	4364											
THRAP3	9967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36767183	36767183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaggaagaggctggggCagaggcaactactctgggaa	17	8	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:36767183C>T	ENST00000354618.5	+	11	2756	c.2532C>T	c.(2530-2532)ggC>ggT	p.G844G	THRAP3_ENST00000469141.2_Silent_p.G844G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	844	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)				GAGGCTGGGGCAGAGGCAACT	0.468			T	USP6	aneurysmal bone cysts																																p.G844G	Pancreas(129;785 1795 20938 23278 32581)	.		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	THRAP3-663	0			c.C2532T						.						69	72	71					1																	36767183		2203	4300	6503	SO:0001819	synonymous_variant	9967	exon11			CTGGGGCAGAGGC	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.2532C>T	1.37:g.36767183C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	71	23	NM_005119	0	0	13	22	9	D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	CCDS405.1																																																																																			.		0.468	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		T	36767183	C	T	36767183	2	4	26	1	0	0	0	0	0	0	0	1	15921	697	25	3		3	THRAP3	1	36767183	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	1401384	36767183	212483438	5	4365											
C1orf141	400757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67591497	67591497	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgatattgccttagacgcGgatgtagcaagagcttcttc	10	8	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:67591497G>C	ENST00000371007.2	-	4	280	c.171C>G	c.(169-171)tcC>tcG	p.S57S	C1orf141_ENST00000371006.1_Silent_p.S57S|C1orf141_ENST00000544837.1_Silent_p.S57S	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	57										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCTTAGACGCGGATGTAGCAA	0.358																																					p.S57S		.											.	C1orf141-91	0			c.C171G						.						221	210	213					1																	67591497		2203	4300	6503	SO:0001819	synonymous_variant	400757	exon4			AGACGCGGATGTA	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.171C>G	1.37:g.67591497G>C		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	83	19	NM_001276352	0	0	0	0	0	Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	CCDS30745.1																																																																																			.		0.358	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		C	67591497	G	C	67591497	2	2	26	1	0	0	0	0	0	0	0	1	2008	1103	39	2		2	C1orf141	1	67591497	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	30824314	67591497	181659124	6	4366											
CDC7	8317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	91979529	91979529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctgtaggcctttctgtcCagcgctctgtttttggagaa	11	9	3	1	rs371099029		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:91979529C>A	ENST00000428239.1	+	8	1106	c.847C>A	c.(847-849)Cag>Aag	p.Q283K	CDC7_ENST00000430031.2_Missense_Mutation_p.Q255K|CDC7_ENST00000234626.6_Missense_Mutation_p.Q283K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCTTTCTGTCCAGCGCTCTGT	0.393																																					p.Q283K		.											.	CDC7-1125	0			c.C847A						.						135	130	132					1																	91979529		2203	4300	6503	SO:0001583	missense	8317	exon8			TCTGTCCAGCGCT	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.847C>A	1.37:g.91979529C>A	ENSP00000393139:p.Gln283Lys	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	67	30	NM_003503	0	0	1	1	0	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577310	0.45902	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.47528	0.84;0.99;0.99	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114318	0.64402	D	0.000013	T	0.31451	0.0797	N	0.17838	0.53	0.50467	D	0.999872	P;D	0.54772	0.932;0.968	P;P	0.50970	0.573;0.655	T	0.03898	-1.0994	10	0.10902	T	0.67	-7.2494	20.2956	0.98549	0.0:1.0:0.0:0.0	.	255;283	B7Z5H7;O00311	.;CDC7_HUMAN	K	255;283;283	ENSP00000407477:Q255K;ENSP00000234626:Q283K;ENSP00000393139:Q283K	ENSP00000234626:Q283K	Q	+	1	0	CDC7	91752117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.677000	0.68142	2.805000	0.96524	0.460000	0.39030	CAG	.		0.393	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		A	91979529	C	A	91979529	3	1	26	1	0	0	0	0	1	0	0	0	3091	595	21	3	873	3	CDC7	1	91979529	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	24388032	91979529	157271092	7	4367											
NBPF9	400818	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	144821919	144821919	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctgcctggctcatcAggaatctgcaggagtctgaa	11	12	4	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:144821919A>G	ENST00000468645.1	+	7	859		c.e7-1		NBPF9_ENST00000338347.4_Splice_Site|NBPF9_ENST00000281815.8_Splice_Site|NBPF9_ENST00000440491.2_Splice_Site			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9							cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CTGGCTCATCAGGAATCTGCA	0.488																																					.		.											.	.	0			c.1636-2A>G						.																																			SO:0001630	splice_region_variant	400818	exon13			CTCATCAGGAATC		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000468645.1:c.860-1A>G	1.37:g.144821919A>G		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	135	42	NM_001037675	0	0	0	0	0		Splice_Site	SNP	ENST00000468645.1	37		.	.	.	.	.	.	.	.	.	.	.	4.827	0.153714	0.09185	.	.	ENSG00000168614	ENST00000338347;ENST00000440491;ENST00000375552	.	.	.	0.714	-0.624	0.11552	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	NBPF9	143533276	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-0.708000	0.05035	-0.238000	0.09724	0.156000	0.16432	.	.		0.488	NBPF9-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	protein_coding	OTTHUMT00000038846.1	NM_001037675	Intron	G	144821919	A	G	144821919	5	3	26	1	0	0	0	0	0	0	1	0	10238	202	7	4	1680	4	NBPF9	1	144821919	Splice_Site	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	52842390	144821919	104428702	8	4368											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145299738	145299738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctccccagtccctggcCccacctcttctgccacaaac	4	21	4	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:145299738C>T	ENST00000342960.5	+	6	822	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_5'UTR|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	263						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)		AGTCCCTGGCCCCACCTCTTC	0.493																																					p.P263S		.											.	.	0			c.C787T						.																																			SO:0001583	missense	100132406	exon6			CCTGGCCCCACCT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.787C>T	1.37:g.145299738C>T	ENSP00000345684:p.Pro263Ser	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_001039703	0	0	0	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.523508	0.00959	.	.	ENSG00000163386	ENST00000448873;ENST00000342960	T	0.03242	4.0	0.63	-1.26	0.09376	.	.	.	.	.	T	0.00384	0.0012	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.43893	-0.9363	6	0.26408	T	0.33	.	.	.	.	.	.	.	.	S	188;263	ENSP00000345684:P263S	ENSP00000345684:P263S	P	+	1	0	NBPF10	144011095	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-1.823000	0.01710	-1.742000	0.01342	-2.439000	0.00212	CCC	.		0.493	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		T	145299738	C	T	145299738	3	4	26	1	0	0	0	0	1	0	0	0	10231	623	22	3	809	3	NBPF10	1	145299738	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	477819	145299738	103950883	9	4369											
NBPF14	25832	bcgsc.ca	37	chr1	148010972	148010972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagtcagtcagttcaagAcaacctgaaggagttgaata	10	7	3	4			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:148010972A>G	ENST00000369219.1	-	14	1666	c.1650T>C	c.(1648-1650)tgT>tgC	p.C550C				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	550	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCAGTTCAAGACAACCTGAAG	0.488																																					p.C550C		.											.	NBPF14-91	0			c.T1650C						.						2	2	2					1																	148010972		557	1411	1968	SO:0001819	synonymous_variant	25832	exon14			TTCAAGACAACCT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1650T>C	1.37:g.148010972A>G		Somatic	1081	61		WXS	Illumina GAIIx	Phase_I	1538	97	NM_015383	0	0	6	6	0	Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	-	0.647	-0.811135	0.02798	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36480	-0.9746	2	.	.	.	.	.	.	.	.	.	.	.	A	556	.	.	V	-	2	0	NBPF14	146477596	0.960000	0.32886	0.003000	0.11579	0.003000	0.03518	-0.165000	0.09968	-0.568000	0.06038	-0.564000	0.04169	GTC	.		0.488	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		G	148010972	A	G	148010972	2	3	26	1	0	0	0	0	0	0	0	1	10233	273	10	4		4	NBPF14	1	148010972	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2711234	148010972	101239649	10	4370											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920822	155920822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggagccgggcctccaggCtgccagcttcggttgcccgt	14	17	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:155920822C>A	ENST00000361247.4	-	20	2600	c.2501G>T	c.(2500-2502)aGc>aTc	p.S834I	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S806I|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.S879I|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S833I|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S806I|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S835I|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	834					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCTCCAGGCTGCCAGCTTC	0.697																																					p.S834I	Melanoma(178;35 2768 6610 28839)	.											.	ARHGEF2-228	0			c.G2501T						.						9	10	10					1																	155920822		2176	4255	6431	SO:0001583	missense	9181	exon20			TCCAGGCTGCCAG	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2501G>T	1.37:g.155920822C>A	ENSP00000354837:p.Ser834Ile	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	88	9	NM_001162383	0	0	1	1	0	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327982	0.41197	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.12	4.21	0.49690	.	0.241334	0.30410	N	0.009689	T	0.03348	0.0097	N	0.08118	0	0.26838	N	0.968441	B;B;B;B	0.18968	0.019;0.019;0.032;0.019	B;B;B;B	0.21360	0.015;0.015;0.034;0.025	T	0.30937	-0.9961	10	0.40728	T	0.16	-16.2426	6.4132	0.21702	0.1802:0.7287:0.0:0.0911	.	878;834;833;835	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	I	806;834;835;806;833	ENSP00000315325:S806I;ENSP00000354837:S834I;ENSP00000357298:S835I;ENSP00000357299:S806I;ENSP00000314787:S833I	ENSP00000314787:S833I	S	-	2	0	ARHGEF2	154187446	0.006000	0.16342	1.000000	0.80357	0.991000	0.79684	0.259000	0.18405	1.393000	0.46605	0.655000	0.94253	AGC	.		0.697	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155920822	C	A	155920822	3	1	26	1	0	0	0	0	1	0	0	0	903	797	28	3	471	3	ARHGEF2	1	155920822	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	7909850	155920822	93329799	11	4371											
APOA2	336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161192812	161192812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggctctccacacatggCtcctttgcctgtctccgaac	7	17	2	0	rs557256114		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:161192812C>T	ENST00000367990.3	-	3	138	c.81G>A	c.(79-81)gaG>gaA	p.E27E	APOA2_ENST00000463812.1_5'UTR|APOA2_ENST00000470459.2_Silent_p.E27E|APOA2_ENST00000464492.1_Silent_p.E60E|TOMM40L_ENST00000367988.3_5'Flank|APOA2_ENST00000491350.1_Intron|APOA2_ENST00000468465.1_Intron	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	27					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCACACATGGCTCCTTTGCCT	0.547													C|||	1	0.000199681	0	0	5008	,	,		14485	0		0	False		,,,				2504	0.001				p.E27E		.											.	APOA2-91	0			c.G81A						.						108	101	104					1																	161192812		2203	4300	6503	SO:0001819	synonymous_variant	336	exon3			ACATGGCTCCTTT		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"Apolipoproteins"	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.81G>A	1.37:g.161192812C>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	145	48	NM_001643	0	0	0	0	0	B2R524	Silent	SNP	ENST00000367990.3	37	CCDS1226.1																																																																																			.		0.547	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		T	161192812	C	T	161192812	2	4	26	1	0	0	0	0	0	0	0	1	782	796	28	3		3	APOA2	1	161192812	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	5271990	161192812	88057809	12	4372											
IER5	51278	hgsc.bcm.edu	37	chr1	181058313	181058313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgcccgccgctcGtgcctcttggccggagaccg	13	21	1	1	rs3747955	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:181058313G>A	ENST00000367577.4	+	1	676	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	92			R -> H (in dbSNP:rs3747955). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						cccgccgcTCGTGCCTCTTGG	0.801													G|||	2220	0.443291	0.2489	0.4452	5008	,	,		6443	0.6002		0.3777	False		,,,				2504	0.6104				p.R92H		.											.	IER5-227	0			c.G275A						.	G	HIS/ARG	975,3037		142,691,1173	5	6	6		275	-1.2	0	1	dbSNP_107	6	2425,5403		398,1629,1887	no	missense	IER5	NM_016545.4	29	540,2320,3060	AA,AG,GG		30.9785,24.3021,28.7162	benign	92/328	181058313	3400,8440	2006	3914	5920	SO:0001583	missense	51278	exon1			CCGCTCGTGCCTC	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.275G>A	1.37:g.181058313G>A	ENSP00000356549:p.Arg92His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_016545	0	0	0	1	1	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	943	0.4317765567765568	134	0.27235772357723576	158	0.43646408839779005	358	0.6258741258741258	293	0.3865435356200528	G	2.870	-0.234111	0.05983	0.243021	0.309785	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.10668	2.85	3.62	-1.18	0.09617	.	0.978663	0.08289	U	0.968738	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.15719	0.014	B	0.14578	0.011	T	0.36407	-0.9749	9	0.15066	T	0.55	.	7.4605	0.27291	0.1106:0.5642:0.3252:0.0	rs3747955	92	Q5VY09	IER5_HUMAN	H	92	ENSP00000356549:R92H	ENSP00000356549:R92H	R	+	2	0	IER5	179324936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.173000	0.16724	-0.337000	0.08426	0.297000	0.19635	CGT	G|0.568;A|0.432		0.801	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		A	181058313	G	A	181058313	3	1	26	1	0	0	0	0	1	0	0	0	7535	1145	40	1	277	1	IER5	1	181058313	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	19865501	181058313	68192308	13	4373											
HSD11B1	3290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	209905838	209905838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagtttgctttggatgGgttcttctcctccatcagaa	9	9	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:209905838G>T	ENST00000367028.2	+	6	744	c.575G>T	c.(574-576)gGg>gTg	p.G192V	HSD11B1_ENST00000261465.1_Missense_Mutation_p.G192V|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G192V	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	192					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GCTTTGGATGGGTTCTTCTCC	0.423																																					p.G192V		.											.	HSD11B1-153	0			c.G575T						.						201	176	185					1																	209905838		2203	4300	6503	SO:0001583	missense	3290	exon5			TGGATGGGTTCTT	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.575G>T	1.37:g.209905838G>T	ENSP00000355995:p.Gly192Val	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	212	75	NM_005525	0	0	5	10	5	B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120689	0.77323	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.88818	-2.43;-2.43;-2.43	5.45	5.45	0.79879	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.104184	0.64402	D	0.000003	D	0.94647	0.8274	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.95159	0.8280	10	0.72032	D	0.01	.	16.2046	0.82114	0.0:0.0:1.0:0.0	.	192	P28845	DHI1_HUMAN	V	192	ENSP00000355995:G192V;ENSP00000261465:G192V;ENSP00000355994:G192V	ENSP00000261465:G192V	G	+	2	0	HSD11B1	207972461	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.228000	0.65310	2.555000	0.86185	0.557000	0.71058	GGG	.		0.423	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		T	209905838	G	T	209905838	3	4	26	1	0	0	0	0	1	0	0	0	7402	1232	43	3	593	3	HSD11B1	1	209905838	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	28847525	209905838	39344783	14	4374											
PCNXL2	80003	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	233122169	233122169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagctcgtgcactgaggtgGacgtctggaggaatgtttgg	16	8	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:233122169G>A	ENST00000258229.9	-	33	6143	c.5909C>T	c.(5908-5910)tCc>tTc	p.S1970F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S622F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1970	Ser-rich.					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)				CACTGAGGTGGACGTCTGGAG	0.662																																					p.S1970F		.											.	PCNXL2-91	0			c.C5909T						.						20	27	25					1																	233122169		2055	4187	6242	SO:0001583	missense	80003	exon33			GAGGTGGACGTCT	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.5909C>T	1.37:g.233122169G>A	ENSP00000258229:p.Ser1970Phe	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	128	8	NM_014801	0	0	0	0	0	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093041	0.36952	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.31769	1.48;2.56	5.85	5.85	0.93711	.	0.136154	0.51477	D	0.000099	T	0.29684	0.0741	L	0.50919	1.6	0.80722	D	1	B;B	0.26672	0.156;0.028	B;B	0.21546	0.035;0.027	T	0.03784	-1.1004	10	0.52906	T	0.07	.	13.3805	0.60764	0.0715:0.0:0.9285:0.0	.	1970;622	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	F	622;1970	ENSP00000340759:S622F;ENSP00000258229:S1970F	ENSP00000258229:S1970F	S	-	2	0	PCNXL2	231188792	1.000000	0.71417	0.938000	0.37757	0.188000	0.23474	6.647000	0.74354	2.771000	0.95319	0.561000	0.74099	TCC	.		0.662	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233122169	G	A	233122169	3	1	26	1	0	0	0	0	1	0	0	0	11631	1174	41	3	512	3	PCNXL2	1	233122169	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	23216331	233122169	16128452	15	4375											
ARID4B	51742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235345012	235345012	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttggagctccccagcAacactatccacctcaattgt	7	14	2	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:235345012A>C	ENST00000264183.3	-	20	3719	c.3222T>G	c.(3220-3222)gtT>gtG	p.V1074V	ARID4B_ENST00000349213.3_Silent_p.V988V|ARID4B_ENST00000366603.2_Silent_p.V1074V|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1074					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)			GCTCCCCAGCAACACTATCCA	0.483																																					p.V1074V		.											.	ARID4B-228	0			c.T3222G						.						112	94	100					1																	235345012		2203	4300	6503	SO:0001819	synonymous_variant	51742	exon20			CCCAGCAACACTA	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.3222T>G	1.37:g.235345012A>C		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	88	24	NM_016374	0	0	1	1	0	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	4.083	0.013417	0.07912	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.17	-6.28	0.02020	.	.	.	.	.	T	0.38295	0.1035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	-13.1614	3.331	0.07084	0.3427:0.3508:0.2191:0.0875	.	.	.	.	W	474	.	.	L	-	2	0	ARID4B	233411635	0.028000	0.19301	0.017000	0.16124	0.989000	0.77384	-0.640000	0.05440	-1.052000	0.03222	0.477000	0.44152	TTG	.		0.483	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		C	235345012	A	C	235345012	2	2	26	1	0	0	0	0	0	0	0	1	920	117	5	5		5	ARID4B	1	235345012	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2222843	235345012	13905609	16	4376											
OR2M5	127059	bcgsc.ca	37	chr1	248309356	248309356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccagagcactcaggAaagtgttaggaaagggcaag	15	6	1	2	rs73141283	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr1:248309356A>G	ENST00000366476.1	+	1	907	c.907A>G	c.(907-909)Aaa>Gaa	p.K303E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGCACTCAGGAAAGTGTTAGG	0.453													a|||	273	0.0545128	0.0575	0.0187	5008	,	,		17595	0.0754		0.0646	False		,,,				2504	0.044				p.K303E		.											.	OR2M5-71	0			c.A907G						.	A	GLU/LYS	248,4158	123.3+/-160.7	10,228,1965	61	57	58		907	2.7	0.1	1	dbSNP_130	58	457,8143	109.4+/-169.9	19,419,3862	yes	missense	OR2M5	NM_001004690.1	56	29,647,5827	GG,GA,AA		5.314,5.6287,5.4206	possibly-damaging	303/313	248309356	705,12301	2203	4300	6503	SO:0001583	missense	127059	exon1			CTCAGGAAAGTGT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.907A>G	1.37:g.248309356A>G	ENSP00000355432:p.Lys303Glu	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	195	7	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	140	0.0641025641025641	30	0.06097560975609756	8	0.022099447513812154	57	0.09965034965034965	45	0.059366754617414245	a	12.30	1.896938	0.33535	0.056287	0.05314	ENSG00000162727	ENST00000366476	T	0.40476	1.03	2.65	2.65	0.31530	.	.	.	.	.	T	0.01558	0.0050	M	0.82923	2.615	0.80722	P	0.0	B	0.14805	0.011	B	0.18871	0.023	T	0.29119	-1.0022	8	0.87932	D	0	.	8.6949	0.34289	1.0:0.0:0.0:0.0	.	303	A3KFT3	OR2M5_HUMAN	E	303	ENSP00000355432:K303E	ENSP00000355432:K303E	K	+	1	0	OR2M5	246375979	0.003000	0.15002	0.066000	0.19879	0.030000	0.12068	1.499000	0.35671	0.948000	0.37687	0.317000	0.21355	AAA	A|0.942;G|0.058		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		G	248309356	A	G	248309356	3	3	26	1	0	0	0	0	1	0	0	0	11052	247	9	4	909	4	OR2M5	1	248309356	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	12964344	248309356	941265	17	4377											
ZFP36L2	678	hgsc.bcm.edu	37	chr2	43452793	43452793	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccgtcggaggaatccCggcgcgaagcccgagctggg	18	12	0	0	rs77160973	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:43452793C>G	ENST00000282388.3	-	2	443	c.150G>C	c.(148-150)ccG>ccC	p.P50P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	50					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGAGGAATCCCGGCGCGAAGC	0.692													C|||	128	0.0255591	0.0023	0.0259	5008	,	,		12353	0.001		0.0577	False		,,,				2504	0.0491				p.P50P		.											.	ZFP36L2-226	0			c.G150C						.	C		59,4289		0,59,2115	8	10	10		150	1.9	1	2	dbSNP_132	10	487,8043		16,455,3794	no	coding-synonymous	ZFP36L2	NM_006887.4		16,514,5909	GG,GC,CC		5.7093,1.3569,4.2398		50/495	43452793	546,12332	2174	4265	6439	SO:0001819	synonymous_variant	678	exon2			GAATCCCGGCGCG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.150G>C	2.37:g.43452793C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_006887	0	0	0	2	2	Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	CCDS1811.1																																																																																			C|0.971;G|0.029		0.692	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		G	43452793	C	G	43452793	2	3	26	1	0	0	0	0	0	0	0	1	17695	639	23	2		2	ZFP36L2	2	43452793	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		43452793	199746580	18	4378											
NRXN1	9378	hgsc.bcm.edu	37	chr2	51255344	51255344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcccagctccgcccagCagcccaggagcagcagcgag	13	18	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:51255344C>A	ENST00000406316.2	-	2	1544	c.68G>T	c.(67-69)tGc>tTc	p.C23F	NRXN1_ENST00000406859.3_Missense_Mutation_p.C23F|NRXN1_ENST00000401669.2_Missense_Mutation_p.C23F|NRXN1_ENST00000405472.3_Missense_Mutation_p.C23F|NRXN1_ENST00000402717.3_Missense_Mutation_p.C23F|NRXN1_ENST00000405581.1_Missense_Mutation_p.C23F|NRXN1_ENST00000404971.1_Missense_Mutation_p.C23F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	23					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)			CTCCGCCCAGCAGCCCAGGAG	0.716																																					p.C23F		.											.	NRXN1-92	0			c.G68T						.						4	5	5					2																	51255344		1869	4046	5915	SO:0001583	missense	9378	exon2			GCCCAGCAGCCCA	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.68G>T	2.37:g.51255344C>A	ENSP00000384311:p.Cys23Phe	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	33	16	NM_004801	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489305	0.64074	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.05	5.05	0.67936	.	0.370606	0.15113	U	0.279834	T	0.76905	0.4053	L	0.59436	1.845	0.45035	D	0.998054	D;D;B	0.54207	0.965;0.965;0.063	P;P;B	0.44811	0.461;0.461;0.006	T	0.73883	-0.3842	10	0.13470	T	0.59	.	18.4092	0.90545	0.0:1.0:0.0:0.0	.	23;23;23	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	F	23	ENSP00000385142:C23F;ENSP00000384311:C23F;ENSP00000434015:C23F;ENSP00000385017:C23F;ENSP00000385434:C23F;ENSP00000385681:C23F;ENSP00000385310:C23F	ENSP00000385017:C23F	C	-	2	0	NRXN1	51108848	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.343000	0.79319	2.340000	0.79590	0.514000	0.50259	TGC	.		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	51255344	C	A	51255344	3	1	26	1	0	0	0	0	1	0	0	0	10704	710	25	3	4930	3	NRXN1	2	51255344	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	7802551	51255344	191944029	19	4379											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125660522	125660522	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggttttgctggatgcatgtCttccgtccagtacaaccaca	10	11	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:125660522C>G	ENST00000431078.1	+	22	3861	c.3497C>G	c.(3496-3498)tCt>tGt	p.S1166C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1166	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGATGCATGTCTTCCGTCCAG	0.483																																					p.S1166C		.											.	CNTNAP5-524	0			c.C3497G						.						66	67	66					2																	125660522		2054	4221	6275	SO:0001583	missense	129684	exon22			GCATGTCTTCCGT	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.3497C>G	2.37:g.125660522C>G	ENSP00000399013:p.Ser1166Cys	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	164	77	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779241	0.49891	.	.	ENSG00000155052	ENST00000431078	T	0.79653	-1.29	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000176	D	0.91126	0.7206	M	0.88775	2.98	0.53688	D	0.999971	D	0.71674	0.998	D	0.66847	0.947	D	0.92519	0.6023	10	0.87932	D	0	.	18.4001	0.90513	0.0:1.0:0.0:0.0	.	1166	Q8WYK1	CNTP5_HUMAN	C	1166	ENSP00000399013:S1166C	ENSP00000399013:S1166C	S	+	2	0	CNTNAP5	125376992	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	5.850000	0.69473	2.597000	0.87782	0.655000	0.94253	TCT	.		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125660522	C	G	125660522	3	3	26	1	0	0	0	0	1	0	0	0	3657	913	32	3	3583	3	CNTNAP5	2	125660522	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	74405178	125660522	117538851	20	4380											
HS6ST1	9394	hgsc.bcm.edu	37	chr2	129076016	129076016	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccgggcgcgcccaggCtcagtcctgggcccgcgtac	16	18	1	0	rs201154532	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:129076016C>G	ENST00000259241.6	-	1	135	c.122G>C	c.(121-123)aGc>aCc	p.S41T	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	41					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		cgcgcccAGGCTCAGTCCTGG	0.682													C|||	125	0.0249601	0.0061	0.0173	5008	,	,		7315	0.004		0.0537	False		,,,				2504	0.0481				p.S41T		.											.	HS6ST1-91	0			c.G122C						.						6	8	7					2																	129076016		1754	3929	5683	SO:0001583	missense	9394	exon1			CCCAGGCTCAGTC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.122G>C	2.37:g.129076016C>G	ENSP00000259241:p.Ser41Thr	Somatic	1	1		WXS	Illumina GAIIx	Phase_I	5	4	NM_004807	0	0	0	0	0	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.525451	0.27299	.	.	ENSG00000136720	ENST00000259241	D	0.82711	-1.64	3.16	3.16	0.36331	.	0.115571	0.64402	U	0.000008	T	0.63534	0.2519	N	0.14661	0.345	0.37192	D	0.903994	B	0.26002	0.139	B	0.19946	0.027	T	0.59563	-0.7431	9	.	.	.	.	6.0589	0.19826	0.0:0.8538:0.0:0.1462	.	41	O60243	H6ST1_HUMAN	T	41	ENSP00000259241:S41T	.	S	-	2	0	HS6ST1	128792486	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.610000	0.46325	1.600000	0.50102	0.313000	0.20887	AGC	.		0.682	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		G	129076016	C	G	129076016	3	3	26	1	0	0	0	0	1	0	0	0	7397	797	28	3	1121	3	HS6ST1	2	129076016	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	3415494	129076016	114123357	21	4381											
CTLA4	1493	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	204735648	204735648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaacggaacccagatttAtgtaattggtgagcaaagcc	11	8	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:204735648A>G	ENST00000302823.3	+	2	606	c.449A>G	c.(448-450)tAt>tGt	p.Y150C	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.Y150C|CTLA4_ENST00000427473.2_Missense_Mutation_p.Y113C|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	150	Homodimerization.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	ACCCAGATTTATGTAATTGGT	0.473																																					p.Y150C		.											.	CTLA4-90	0			c.A449G						.						55	53	54					2																	204735648		2203	4300	6503	SO:0001583	missense	1493	exon2			AGATTTATGTAAT		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	2505	protein-coding gene	gene with protein product		123890	"celiac disease 3", "insulin-dependent diabetes mellitus 12"	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.449A>G	2.37:g.204735648A>G	ENSP00000303939:p.Tyr150Cys	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	181	11	NM_005214	0	0	0	0	0	A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968096	0.34754	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000427473	T;T;T	0.42513	0.97;0.97;0.97	5.34	4.14	0.48551	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.137686	0.49916	D	0.000121	T	0.62575	0.2439	M	0.77820	2.39	0.51767	D	0.999932	D;D	0.89917	0.999;1.0	D;D	0.77557	0.986;0.99	T	0.64681	-0.6350	10	0.87932	D	0	-8.3732	10.3742	0.44073	0.8359:0.0:0.0:0.1641	.	150;150	Q8TDA6;P16410	.;CTLA4_HUMAN	C	150;150;113	ENSP00000303939:Y150C;ENSP00000295854:Y150C;ENSP00000409707:Y113C	ENSP00000295854:Y150C	Y	+	2	0	CTLA4	204443893	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	2.491000	0.45303	0.793000	0.33875	0.533000	0.62120	TAT	.		0.473	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		G	204735648	A	G	204735648	3	3	26	1	0	0	0	0	1	0	0	0	4020	449	16	4	455	4	CTLA4	2	204735648	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	75659632	204735648	38463725	22	4382											
ALPP	250	hgsc.bcm.edu	37	chr2	233246432	233246432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgacgccgcgcacccggggcGgtccgtggtccccgcgttgc	16	18	0	0	rs377067025		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr2:233246432G>C	ENST00000392027.2	+	11	1804	c.1535G>C	c.(1534-1536)cGg>cCg	p.R512P	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	512					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCCGGGGCGGTCCGTGGTC	0.731																																					p.R512P		.											.	ALPP-91	0			c.G1535C						.	C	PRO/ARG	4,4306		0,4,2151	10	12	11		1535	-3.2	0	2		11	2,8428		0,2,4213	no	missense	ALPP	NM_001632.3	103	0,6,6364	CC,CG,GG		0.0237,0.0928,0.0471	benign	512/536	233246432	6,12734	2155	4215	6370	SO:0001583	missense	250	exon11			CGGGGCGGTCCGT	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1535G>C	2.37:g.233246432G>C	ENSP00000375881:p.Arg512Pro	Somatic	5	1		WXS	Illumina GAIIx	Phase_I	8	2	NM_001632	0	0	0	0	0	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	0.776	-0.764141	0.02996	9.28E-4	2.37E-4	ENSG00000163283	ENST00000392027	D	0.95622	-3.76	1.63	-3.25	0.05079	.	1.313690	0.05099	N	0.486674	D	0.86698	0.5995	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66504	-0.5907	10	0.27082	T	0.32	.	2.7199	0.05198	0.1138:0.3839:0.2785:0.2239	.	512	P05187	PPB1_HUMAN	P	512	ENSP00000375881:R512P	ENSP00000375881:R512P	R	+	2	0	ALPP	232954676	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.757000	0.04772	-4.810000	0.00031	-4.083000	0.00012	CGG	.		0.731	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		C	233246432	G	C	233246432	3	2	26	1	0	0	0	0	1	0	0	0	548	1116	39	2	1577	2	ALPP	2	233246432	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	28510784	233246432	9952941	23	4383											
ATP2B2	491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	10491213	10491213	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggagtaaaagtcgctgttGgtcatgtcacccatgtttgc	11	8	2	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:10491213G>C	ENST00000352432.4	-	1	84	c.15C>G	c.(13-15)acC>acG	p.T5T	ATP2B2_ENST00000343816.4_Silent_p.T5T|ATP2B2_ENST00000397077.1_Silent_p.T5T|ATP2B2_ENST00000383800.4_Silent_p.T5T|ATP2B2_ENST00000360273.2_Silent_p.T5T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	5					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCTGTTGGTCATGTCAC	0.602																																					p.T5T	Ovarian(125;1619 1709 15675 19819 38835)	.											.	ATP2B2-95	0			c.C15G						.						136	118	124					3																	10491213		2203	4300	6503	SO:0001819	synonymous_variant	491	exon2			GCTGTTGGTCATG	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.15C>G	3.37:g.10491213G>C		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	146	45	NM_001683	0	0	0	0	0	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																			.		0.602	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		C	10491213	G	C	10491213	2	2	26	1	0	0	0	0	0	0	0	1	1141	1335	47	3		3	ATP2B2	3	10491213	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		10491213	187531217	24	4384											
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	37388682	37388682	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatctatttttttatttggcAggtggcaatttgtaccatac	8	6	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:37388682A>T	ENST00000361924.2	+	21	6846		c.e21-1		GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Splice_Site	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATTTGGCAGGTGGCAATT	0.338																																					.		.											.	GOLGA4-93	0			c.6518-2A>T						.						128	128	128					3																	37388682		2203	4300	6503	SO:0001630	splice_region_variant	2803	exon21			TTTGGCAGGTGGC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6473-1A>T	3.37:g.37388682A>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	65	13	NM_001172713	0	0	0	0	0	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Splice_Site	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451921	0.63290	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4464	0.67352	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA4	37363686	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.853000	0.69496	2.055000	0.61198	0.454000	0.30748	.	.		0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Intron	T	37388682	A	T	37388682	5	4	26	1	0	0	0	0	0	0	1	0	6581	202	7	5	6623	5	GOLGA4	3	37388682	Splice_Site	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	26897469	37388682	160633748	25	4385											
VILL	50853	broad.mit.edu	37	chr3	38040537	38040537	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaccagaagctcggcggGaggggtgagcgggcggggcg	23	8	0	2	rs199499422	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:38040537G>A	ENST00000283713.6	+	10	1343	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G	VILL_ENST00000465644.1_Silent_p.G77G|VILL_ENST00000383759.2_Silent_p.G359G			O15195	VILL_HUMAN	villin-like	359					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCTCGGCGGGAGGGGTGAGC	0.726													G|||	37	0.00738818	0.0015	0.0043	5008	,	,		3947	0		0.0159	False		,,,				2504	0.0164				p.G359G		.											.	VILL-90	0			c.G1077A						.	G		8,4126		0,8,2059	7	8	8		1077	-1.2	0	3		8	128,7976		0,128,3924	no	coding-synonymous	VILL	NM_015873.3		0,136,5983	AA,AG,GG		1.5795,0.1935,1.1113		359/857	38040537	136,12102	2067	4052	6119	SO:0001819	synonymous_variant	50853	exon9			CGGCGGGAGGGGT		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1077G>A	3.37:g.38040537G>A		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	36	14	NM_015873	0	0	0	0	0	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																			G|0.995;A|0.005		0.726	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		A	38040537	G	A	38040537	2	1	26	1	0	0	0	0	0	0	0	1	17214	1161	41	3		3	VILL	3	38040537	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	651855	38040537	159981893	26	4386											
CCR3	1232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	46307366	46307366	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagtacaaggccatccgGctcatttttgtcatcatggc	8	10	3	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:46307366G>C	ENST00000357422.2	+	4	1260	c.717G>C	c.(715-717)cgG>cgC	p.R239R	CCR3_ENST00000541018.1_Silent_p.R239R|CCR3_ENST00000395942.2_Silent_p.R239R|CCR3_ENST00000395940.2_Silent_p.R239R|CCR3_ENST00000545097.1_Silent_p.R260R			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.R239R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGGCCATCCGGCTCATTTTTG	0.448																																					p.R260R		.											.	CCR3-660	1	Substitution - coding silent(1)	large_intestine(1)	c.G780C						.						75	74	74					3																	46307366		2203	4300	6503	SO:0001819	synonymous_variant	1232	exon3			CATCCGGCTCATT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.717G>C	3.37:g.46307366G>C		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	64	14	NM_178328	0	0	0	0	0	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	CCDS2738.1																																																																																			.		0.448	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			C	46307366	G	C	46307366	2	2	26	1	0	0	0	0	0	0	0	1	2949	1190	42	3		3	CCR3	3	46307366	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	8266829	46307366	151715064	27	4387											
FLNB	2317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	58128391	58128391	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttaggtgaccgaagaggcCtatgtcccagtgagtgacat	12	8	0	4			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:58128391C>G	ENST00000295956.4	+	31	5361	c.5196C>G	c.(5194-5196)gcC>gcG	p.A1732A	FLNB_ENST00000358537.3_Silent_p.A1708A|FLNB_ENST00000419752.2_Silent_p.A1552A|FLNB_ENST00000348383.5_Silent_p.A1732A|FLNB_ENST00000357272.4_Silent_p.A1732A|FLNB_ENST00000493452.1_Silent_p.A1539A|FLNB_ENST00000429972.2_Silent_p.A1721A|FLNB_ENST00000490882.1_Silent_p.A1763A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1732					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)	p.A1732A(1)|p.A1763A(1)		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)		CCGAAGAGGCCTATGTCCCAG	0.512																																					p.A1763A		.											.	FLNB-593	2	Substitution - coding silent(2)	kidney(2)	c.C5289G						.						134	116	122					3																	58128391		2203	4300	6503	SO:0001819	synonymous_variant	2317	exon32			AGAGGCCTATGTC	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.5196C>G	3.37:g.58128391C>G		Somatic	105	1		WXS	Illumina GAIIx	Phase_I	180	37	NM_001164317	0	0	3	5	2	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																			.		0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		G	58128391	C	G	58128391	2	3	26	1	0	0	0	0	0	0	0	1	5956	668	24	3		3	FLNB	3	58128391	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	11821025	58128391	139894039	28	4388											
PROK2	60675	hgsc.bcm.edu	37	chr3	71834120	71834120	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttaccccggtgatcacGgcggcgtccccagcgcgggg	15	17	1	1	rs372623686	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:71834120G>C	ENST00000295619.3	-	1	92	c.84C>G	c.(82-84)gcC>gcG	p.A28A	PROK2_ENST00000353065.3_Silent_p.A28A	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	28					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		CGGTGATCACGGCGGCGTCCC	0.736													G|||	2	0.000399361	0	0.0014	5008	,	,		9049	0		0	False		,,,				2504	0.001				p.A28A		.											.	PROK2-90	0			c.C84G						.	G	,	0,3078		0,0,1539	3	4	4		84,84	-1.8	1	3		4	7,6135		0,7,3064	no	coding-synonymous,coding-synonymous	PROK2	NM_001126128.1,NM_021935.3	,	0,7,4603	CC,CG,GG		0.114,0.0,0.0759	,	28/130,28/109	71834120	7,9213	1539	3071	4610	SO:0001819	synonymous_variant	60675	exon1			GATCACGGCGGCG	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.84C>G	3.37:g.71834120G>C		Somatic	2	1		WXS	Illumina GAIIx	Phase_I	9	4	NM_001126128	0	0	0	0	0	Q53Z79|Q6ISR0	Silent	SNP	ENST00000295619.3	37	CCDS46868.1																																																																																			.		0.736	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		C	71834120	G	C	71834120	2	2	26	1	0	0	0	0	0	0	0	1	12593	1103	39	2		2	PROK2	3	71834120	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	13705729	71834120	126188310	29	4389											
CLSTN2	64084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	140277631	140277631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgccaggggagtgacccTcttccctgatatcaagattg	11	10	2	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:140277631T>C	ENST00000458420.3	+	12	2163	c.1973T>C	c.(1972-1974)cTc>cCc	p.L658P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	658					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAGTGACCCTCTTCCCTGAT	0.587										HNSCC(16;0.037)																											p.L658P	GBM(45;858 913 3709 36904 37282)	.											.	CLSTN2-157	0			c.T1973C						.						61	60	60					3																	140277631		2203	4300	6503	SO:0001583	missense	64084	exon12			TGACCCTCTTCCC	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.1973T>C	3.37:g.140277631T>C	ENSP00000402460:p.Leu658Pro	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	112	30	NM_022131	0	0	1	1	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.539442	0.27475	.	.	ENSG00000158258	ENST00000458420	T	0.37235	1.21	5.41	5.41	0.78517	.	0.122857	0.56097	D	0.000035	T	0.32675	0.0837	L	0.52364	1.645	0.80722	D	1	B	0.25521	0.128	B	0.23275	0.045	T	0.08289	-1.0729	9	.	.	.	-14.8958	13.4138	0.60958	0.0:0.0:0.0:1.0	.	658	Q9H4D0	CSTN2_HUMAN	P	658	ENSP00000402460:L658P	.	L	+	2	0	CLSTN2	141760321	1.000000	0.71417	0.994000	0.49952	0.365000	0.29674	5.097000	0.64542	2.059000	0.61396	0.528000	0.53228	CTC	.		0.587	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		C	140277631	T	C	140277631	3	2	26	1	0	0	0	0	1	0	0	0	3569	1551	54	4	2019	4	CLSTN2	3	140277631	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	68443511	140277631	57744799	30	4390											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	4	2		WXS	Illumina GAIIx	Phase_I	10	4	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	26	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	9850761	150128392	47894038	31	4391											
SEC62	7095	ucsc.edu	37	chr3	169700673	169700673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaaaagagaaaaaaaaaGatggtgaaaaggaagaatcc	10	2	0	5			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr3:169700673G>A	ENST00000337002.4	+	4	488	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	144					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						gaaaaaaaaagatggtgaaaa	0.289																																					p.D144N		.											.	SEC62-69	0			c.G430A						.						20	23	22					3																	169700673		2061	4208	6269	SO:0001583	missense	7095	exon4			AAAAAAGATGGTG	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.430G>A	3.37:g.169700673G>A	ENSP00000337688:p.Asp144Asn	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	20	2	NM_003262	0	0	27	36	9	D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546577	0.65198	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	D;D	0.83163	-1.69;-1.69	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422619	0.28465	N	0.015260	T	0.76863	0.4047	L	0.46157	1.445	0.50813	D	0.999892	P	0.37914	0.611	B	0.35240	0.198	T	0.73646	-0.3917	10	0.15499	T	0.54	-6.1389	15.8813	0.79207	0.0:0.0:0.864:0.136	.	144	Q99442	SEC62_HUMAN	N	144	ENSP00000337688:D144N;ENSP00000420331:D144N	ENSP00000337688:D144N	D	+	1	0	SEC62	171183367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.700000	0.92200	0.585000	0.79938	GAT	.		0.289	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			A	169700673	G	A	169700673	3	1	26	1	0	0	0	0	1	0	0	0	14049	942	33	3	444	3	SEC62	3	169700673	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	19572281	169700673	28321757	32	4392											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	6	2		WXS	Illumina GAIIx	Phase_I	24	9	NM_175918	0	0	4	7	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	26	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		1388755	189765521	33	4393											
FAM193A	8603	broad.mit.edu	37	chr4	2641522	2641522	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcataataaacacctgtttGaaaatctggtcttttcggag	8	7	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:2641522G>T	ENST00000324666.5	+	4	577	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	FAM193A_ENST00000502458.1_Nonsense_Mutation_p.E76*|FAM193A_ENST00000545951.1_Nonsense_Mutation_p.E76*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.E76*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.E76*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	76										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						ACACCTGTTTGAAAATCTGGT	0.408																																					p.E76X		.											.	FAM193A-93	0			c.G226T						.						93	84	87					4																	2641522		2203	4300	6503	SO:0001587	stop_gained	8603	exon4			CTGTTTGAAAATC	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.226G>T	4.37:g.2641522G>T	ENSP00000324587:p.Glu76*	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_003704	0	0	0	0	0	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Nonsense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	39	7.856853	0.98528	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	.	.	.	4.74	4.74	0.60224	.	0.054323	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.7659	14.5747	0.68238	0.0:0.1466:0.8533:0.0	.	.	.	.	X	76	.	ENSP00000324587:E76X	E	+	1	0	FAM193A	2611320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.754000	0.68743	2.618000	0.88619	0.563000	0.77884	GAA	.		0.408	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2641522	G	T	2641522	4	4	26	1	0	0	0	0	0	1	0	0	5543	1291	45	3	232	3	FAM193A	4	2641522	Nonsense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	1252767	2641522	188512754	34	4394											
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20270474	20270474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgtttcctgagttgcTgtttcttgggactgcgaagc	12	9	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:20270474T>C	ENST00000504154.1	+	4	617	c.365T>C	c.(364-366)cTg>cCg	p.L122P	SLIT2_ENST00000503823.1_Missense_Mutation_p.L122P|SLIT2_ENST00000273739.5_Missense_Mutation_p.L122P|SLIT2_ENST00000503837.1_Missense_Mutation_p.L122P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	122					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						CCTGAGTTGCTGTTTCTTGGG	0.358																																					p.L122P		.											.	SLIT2-521	0			c.T365C						.						154	144	148					4																	20270474		2203	4299	6502	SO:0001583	missense	9353	exon4			AGTTGCTGTTTCT	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.365T>C	4.37:g.20270474T>C	ENSP00000422591:p.Leu122Pro	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876489	0.72180	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	D;D;D;D;T	0.83075	-1.65;-1.68;-1.58;-1.63;0.27	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	M	0.75615	2.305	0.80722	D	1	D;D	0.62365	0.991;0.981	P;P	0.61874	0.867;0.895	D	0.90705	0.4623	10	0.62326	D	0.03	.	16.3941	0.83550	0.0:0.0:0.0:1.0	.	122;122	O94813-3;O94813	.;SLIT2_HUMAN	P	122;122;122;122;122;83	ENSP00000427548:L122P;ENSP00000422591:L122P;ENSP00000273739:L122P;ENSP00000422261:L122P;ENSP00000426356:L83P	ENSP00000273739:L122P	L	+	2	0	SLIT2	19879572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.800000	0.69108	2.272000	0.75746	0.523000	0.50628	CTG	.		0.358	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20270474	T	C	20270474	3	2	26	1	0	0	0	0	1	0	0	0	14785	1580	55	4	379	4	SLIT2	4	20270474	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	17628952	20270474	170883802	35	4395											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	26	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	28221960	48492434	142661842	36	4396											
CWH43	80157	broad.mit.edu	37	chr4	48993967	48993967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggtacctcagaatttGgggattcattttaggacaga	10	6	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:48993967G>T	ENST00000226432.4	+	4	554	c.371G>T	c.(370-372)tGg>tTg	p.W124L	CWH43_ENST00000513409.1_Missense_Mutation_p.W97L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	124					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCAGAATTTGGGGATTCATT	0.343																																					p.W124L		.											.	CWH43-93	0			c.G371T						.						186	167	173					4																	48993967		2202	4300	6502	SO:0001583	missense	80157	exon4			GAATTTGGGGATT		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.371G>T	4.37:g.48993967G>T	ENSP00000226432:p.Trp124Leu	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_025087	0	0	0	0	0	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373860	0.42105	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.39229	1.65;1.09	5.42	5.42	0.78866	.	0.111715	0.41294	D	0.000920	T	0.63426	0.2510	M	0.67953	2.075	0.46654	D	0.999149	D	0.89917	1.0	D	0.80764	0.994	T	0.60556	-0.7240	9	.	.	.	.	17.5756	0.87947	0.0:0.0:1.0:0.0	.	124	Q9H720	PG2IP_HUMAN	L	124;97	ENSP00000226432:W124L;ENSP00000422802:W97L	.	W	+	2	0	CWH43	48688724	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	6.162000	0.71874	2.826000	0.97356	0.491000	0.48974	TGG	.		0.343	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		T	48993967	G	T	48993967	3	4	26	1	0	0	0	0	1	0	0	0	4082	1357	47	3	385	3	CWH43	4	48993967	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	501533	48993967	142160309	37	4397											
C4orf14	84273	hgsc.bcm.edu	37	chr4	57843114	57843114	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtagagcaccagggaggggCcgggccgccgcaacgcggcg	19	13	0	1	rs200929636	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:57843114C>G	ENST00000264230.4	-	1	1875	c.638G>C	c.(637-639)gGc>gCc	p.G213A	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	213	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				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)										CAGGGAGGGGCCGGGCCGCCG	0.721													C|||	32	0.00638978	8e-04	0.0058	5008	,	,		13241	0		0.0209	False		,,,				2504	0.0061				p.G213A		.											.	.	0			c.G638C						.	C	ALA/GLY	9,4275		0,9,2133	14	20	18		638	4.5	0.9	4		18	108,8306		3,102,4102	yes	missense	C4orf14	NM_032313.2	60	3,111,6235	GG,GC,CC		1.2836,0.2101,0.9214	benign	213/699	57843114	117,12581	2142	4207	6349	SO:0001583	missense	84273	exon1			GAGGGGCCGGGCC	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.638G>C	4.37:g.57843114C>G	ENSP00000264230:p.Gly213Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_032313	0	0	1	3	2	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	CCDS3510.1	22	0.010073260073260074	0	0.0	3	0.008287292817679558	0	0.0	19	0.025065963060686015	C	5.130	0.209587	0.09757	0.002101	0.012836	ENSG00000084092	ENST00000264230	T	0.30714	1.52	5.37	4.52	0.55395	.	0.552805	0.19767	N	0.106538	T	0.07503	0.0189	L	0.42245	1.32	0.42985	D	0.99447	B	0.34015	0.435	B	0.24974	0.057	T	0.03910	-1.0993	10	0.24483	T	0.36	.	8.4767	0.33018	0.0:0.8142:0.0:0.1858	.	213	Q8NC60	CD014_HUMAN	A	213	ENSP00000264230:G213A	ENSP00000264230:G213A	G	-	2	0	C4orf14	57537871	0.004000	0.15560	0.940000	0.37924	0.132000	0.20833	0.973000	0.29422	1.206000	0.43276	0.555000	0.69702	GGC	C|0.989;G|0.011		0.721	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		G	57843114	C	G	57843114	3	3	26	1	0	0	0	0	1	0	0	0	2258	739	26	3	1486	3	C4orf14	4	57843114	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	8849147	57843114	133311162	38	4398											
DSPP	1834	bcgsc.ca	37	chr4	88537126	88537126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcagcgacagcagcgaCagcagcgatagcagtgacag	14	10	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr4:88537126C>T	ENST00000282478.7	+	4	3345	c.3312C>T	c.(3310-3312)gaC>gaT	p.D1104D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1104D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1104	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)		acagcagcgacagcagcgata	0.542																																					p.D1104D		.											.	DSPP-90	0			c.C3312T						.						13	18	17					4																	88537126		1133	2209	3342	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGC	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.3312C>T	4.37:g.88537126C>T		Somatic	683	9		WXS	Illumina GAIIx	Phase_I	806	35	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537126	C	T	88537126	2	4	26	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537126	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	30694012	88537126	102617150	39	4399											
PIK3R1	5295	hgsc.bcm.edu	37	chr5	67522734	67522734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttacgtagaatatatTggaaggaaaaaaatctcgcc	9	6	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:67522734T>C	ENST00000521381.1	+	2	847	c.231T>C	c.(229-231)atT>atC	p.I77I	PIK3R1_ENST00000396611.1_Silent_p.I77I|PIK3R1_ENST00000274335.5_Silent_p.I77I|PIK3R1_ENST00000521657.1_Silent_p.I77I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	77	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)	TAGAATATATTGGAAGGAAAA	0.493			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																											p.I77I		.		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	.	PIK3R1-4332	1	Whole gene deletion(1)	large_intestine(1)	c.T231C						.						46	57	53					5																	67522734		2203	4300	6503	SO:0001819	synonymous_variant	5295	exon2			ATATATTGGAAGG	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.231T>C	5.37:g.67522734T>C		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	52	3	NM_181523	0	0	0	0	0	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	CCDS3993.1																																																																																			.		0.493	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67522734	T	C	67522734	2	2	26	1	0	0	0	0	0	0	0	1	11957	1800	63	4		4	PIK3R1	5	67522734	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10		67522734	113392526	40	4400											
GFM2	84340	ucsc.edu;bcgsc.ca	37	chr5	74037386	74037386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taacaaatcaaaattctcacTaaattcttctaaaaccaagt	1	9	4	0	rs16872235	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:74037386T>A	ENST00000296805.3	-	11	1355	c.898A>T	c.(898-900)Agt>Tgt	p.S300C	GFM2_ENST00000509430.1_Missense_Mutation_p.S300C|GFM2_ENST00000427854.2_Missense_Mutation_p.S300C|GFM2_ENST00000345239.2_Missense_Mutation_p.S300C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		AAATTCTCACTAAATTCTTCT	0.289													T|||	543	0.108427	0.1732	0.1066	5008	,	,		15709	0.0208		0.1382	False		,,,				2504	0.0818				p.S300C		.											.	GFM2-90	0			c.A898T						.	T	CYS/SER,CYS/SER,CYS/SER	798,3594	289.8+/-280.6	65,668,1463	44	46	46		898,898,898	5.9	1	5	dbSNP_123	46	1051,7519	206.1+/-248.3	63,925,3297	yes	missense,missense,missense	GFM2	NM_032380.3,NM_170681.1,NM_170691.1	112,112,112	128,1593,4760	AA,AT,TT		12.2637,18.1694,14.2648	possibly-damaging,possibly-damaging,possibly-damaging	300/780,300/514,300/733	74037386	1849,11113	2196	4285	6481	SO:0001583	missense	84340	exon11			TCTCACTAAATTC	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.898A>T	5.37:g.74037386T>A	ENSP00000296805:p.Ser300Cys	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	47	8	NM_032380	0	0	7	7	0		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	233	0.10668498168498168	87	0.17682926829268292	45	0.12430939226519337	14	0.024475524475524476	87	0.11477572559366754	T	18.66	3.671118	0.67814	0.181694	0.122637	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	T;T;T;T;T	0.74421	-0.02;0.11;-0.02;-0.84;-0.14	5.88	5.88	0.94601	Protein synthesis factor, GTP-binding (1);	0.074495	0.85682	D	0.000000	T	0.00552	0.0018	L	0.39898	1.24	0.18873	P	0.9999851399	D;D;D;D;D	0.71674	0.998;0.99;0.996;0.997;0.992	P;P;P;D;P	0.64144	0.893;0.849;0.849;0.922;0.907	T	0.14282	-1.0478	9	0.87932	D	0	-20.6679	16.2868	0.82725	0.0:0.0:0.0:1.0	rs16872235;rs16872235	300;300;300;300;300	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	C	300;300;300;300;300;258	ENSP00000296805:S300C;ENSP00000296804:S300C;ENSP00000427004:S300C;ENSP00000405808:S300C;ENSP00000421717:S258C	ENSP00000296805:S300C	S	-	1	0	GFM2	74073142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.039000	0.57325	2.244000	0.73946	0.460000	0.39030	AGT	T|0.878;A|0.122		0.289	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		A	74037386	T	A	74037386	3	1	26	1	0	0	0	0	1	0	0	0	6368	1522	53	5	1517	5	GFM2	5	74037386	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	6514652	74037386	106877874	41	4401											
PCDHB2	56133	broad.mit.edu	37	chr5	140476411	140476411	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcccggaggcggcAccggcccaggcccaggccga	15	18	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687																																					p.A679A		.											.	PCDHB2-96	1	Substitution - coding silent(1)	lung(1)	c.A2037C						.						65	67	66					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133	exon1			GGCGGCACCGGCC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	5.37:g.140476411A>C		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	177	5	NM_018936	0	0	5	5	0	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																			.		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476411	A	C	140476411	2	2	26	1	0	0	0	0	0	0	0	1	11581	146	6	5		5	PCDHB2	5	140476411	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	66439025	140476411	40438849	42	4402											
PCDHB6	56130	hgsc.bcm.edu	37	chr5	140531592	140531592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccgggctacctggtgaCcaaggtggtggcggtggacg	19	10	0	1	rs55834559	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:140531592C>T	ENST00000231136.1	+	1	1754	c.1754C>T	c.(1753-1755)aCc>aTc	p.T585I	PCDHB6_ENST00000543635.1_Missense_Mutation_p.T449I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTGGTGACCAAGGTGGTG	0.701													C|||	1343	0.268171	0.0136	0.3141	5008	,	,		14093	0.5308		0.2416	False		,,,				2504	0.3364				p.T585I		.											.	PCDHB6-91	0			c.C1754T						.						12	16	15					5																	140531592		1705	3628	5333	SO:0001583	missense	56130	exon1			TGGTGACCAAGGT	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.1754C>T	5.37:g.140531592C>T	ENSP00000231136:p.Thr585Ile	Somatic	8	1		WXS	Illumina GAIIx	Phase_I	36	9	NM_018939	0	0	45	47	2	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	556	0.25457875457875456	7	0.014227642276422764	92	0.2541436464088398	287	0.5017482517482518	170	0.22427440633245382	C	16.68	3.191021	0.58017	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50548	0.74;0.74	4.19	-0.0448	0.13853	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	M	0.78223	2.4	0.38185	P	0.06025199999999997	P	0.38535	0.635	P	0.44811	0.461	T	0.49072	-0.8977	8	0.87932	D	0	.	15.6841	0.77396	0.0:0.4604:0.5396:0.0	rs55834559	585	Q9Y5E3	PCDB6_HUMAN	I	449;585	ENSP00000438466:T449I;ENSP00000231136:T585I	ENSP00000231136:T585I	T	+	2	0	PCDHB6	140511776	0.002000	0.14202	0.990000	0.47175	0.992000	0.81027	0.755000	0.26405	-0.274000	0.09232	-0.314000	0.08810	ACC	C|0.966;T|0.034		0.701	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		T	140531592	C	T	140531592	3	4	26	1	0	0	0	0	1	0	0	0	11585	507	18	3	1756	3	PCDHB6	5	140531592	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	55181	140531592	40383668	43	4403											
PCDHB16	57717	hgsc.bcm.edu	37	chr5	140564048	140564048	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcgcgacgcagccaagcaGaggctggtggtgctggtcaa	17	10	1	1	rs17844664	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:140564048G>C	ENST00000361016.2	+	1	3069	c.1914G>C	c.(1912-1914)caG>caC	p.Q638H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			Q -> H (in Ref. 3; BAB13447). {ECO:0000305}.	calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCAAGCAGAGGCTGGTGG	0.697													C|||	1305	0.260583	0.0129	0.3012	5008	,	,		14481	0.5308		0.2306	False		,,,				2504	0.319				p.Q638H		.											.	PCDHB16-92	0			c.G1914C						.						25	27	26					5																	140564048		2066	4006	6072	SO:0001583	missense	57717	exon1			CAAGCAGAGGCTG	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.1914G>C	5.37:g.140564048G>C	ENSP00000354293:p.Gln638His	Somatic	5	2		WXS	Illumina GAIIx	Phase_I	49	14	NM_020957	0	0	7	8	1	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	568	0.2600732600732601	8	0.016260162601626018	88	0.2430939226519337	303	0.5297202797202797	169	0.22295514511873352	N	0.015	-1.544803	0.00934	.	.	ENSG00000196963	ENST00000361016	T	0.49720	0.77	3.96	-0.91	0.10511	Cadherin (4);Cadherin-like (1);	0.450223	0.16567	N	0.208799	T	0.00012	0.0000	N	0.16016	0.355	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43491	-0.9388	9	0.06494	T	0.89	.	14.0885	0.64975	0.0:0.2676:0.6494:0.0829	rs17844664	638	Q9NRJ7	PCDBG_HUMAN	H	638	ENSP00000354293:Q638H	ENSP00000354293:Q638H	Q	+	3	2	PCDHB16	140544232	0.000000	0.05858	0.332000	0.25469	0.298000	0.27526	-1.785000	0.01767	-0.483000	0.06772	-0.702000	0.03669	CAG	.		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		C	140564048	G	C	140564048	3	2	26	1	0	0	0	0	1	0	0	0	11580	933	33	3	1916	3	PCDHB16	5	140564048	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	32456	140564048	40351212	44	4404											
GLRA1	2741	broad.mit.edu	37	chr5	151202503	151202503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggcagagaagttaaagcGgccttctccagcttcatcct	9	11	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:151202503G>A	ENST00000455880.2	-	9	1391	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	GLRA1_ENST00000274576.4_Missense_Mutation_p.R361C|GLRA1_ENST00000545569.1_Missense_Mutation_p.R278C			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	369					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGTTAAAGCGGCCTTCTCCA	0.557																																					p.R369C		.											.	GLRA1-91	0			c.C1105T						.						63	60	61					5																	151202503		2203	4300	6503	SO:0001583	missense	2741	exon9			TAAAGCGGCCTTC		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1105C>T	5.37:g.151202503G>A	ENSP00000411593:p.Arg369Cys	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_001146040	0	0	0	0	0	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996641	0.54147	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.84442	-1.85;-1.85;-1.85	4.9	3.93	0.45458	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.997	D;D;P	0.67900	0.954;0.932;0.857	D	0.90461	0.4446	10	0.56958	D	0.05	.	16.0341	0.80608	0.0:0.0:0.8249:0.1751	.	369;278;361	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	C	361;369;278	ENSP00000274576:R361C;ENSP00000411593:R369C;ENSP00000445913:R278C	ENSP00000274576:R361C	R	-	1	0	GLRA1	151182696	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.508000	0.45450	2.243000	0.73865	0.467000	0.42956	CGC	.		0.557	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151202503	G	A	151202503	3	1	26	1	0	0	0	0	1	0	0	0	6480	1116	39	1	272	1	GLRA1	5	151202503	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	10638455	151202503	29712757	45	4405											
ZFP2	80108	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	178359644	178359644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcagtgtaatgaatgcGgaaaagccttcagccggagt	11	9	2	1	rs189472573	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr5:178359644G>A	ENST00000361362.2	+	5	1860	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	ZFP2_ENST00000523286.1_Missense_Mutation_p.G444R|ZFP2_ENST00000503510.2_Missense_Mutation_p.G444R|ZFP2_ENST00000520301.1_Missense_Mutation_p.G444R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	444					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)		TAATGAATGCGGAAAAGCCTT	0.418													G|||	2	0.000399361	0	0.0029	5008	,	,		20093	0		0	False		,,,				2504	0				p.G444R		.											.	ZFP2-93	0			c.G1330A						.						65	66	66					5																	178359644		2203	4300	6503	SO:0001583	missense	80108	exon5			GAATGCGGAAAAG	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.1330G>A	5.37:g.178359644G>A	ENSP00000354453:p.Gly444Arg	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	64	6	NM_030613	0	0	2	2	0	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	g	17.61	3.431409	0.62844	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31897	N	0.006890	T	0.14013	0.0339	M	0.83953	2.67	0.37502	D	0.916796	D	0.89917	1.0	D	0.85130	0.997	T	0.01805	-1.1270	10	0.54805	T	0.06	-9.0419	15.0856	0.72148	0.0:0.0:1.0:0.0	.	444	Q6ZN57	ZFP2_HUMAN	R	444	ENSP00000354453:G444R;ENSP00000430980:G444R;ENSP00000430531:G444R;ENSP00000438114:G444R	ENSP00000354453:G444R	G	+	1	0	ZFP2	178292250	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.278000	0.43426	2.392000	0.81423	0.655000	0.94253	GGA	G|0.999;A|0.001		0.418	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		A	178359644	G	A	178359644	3	1	26	1	0	0	0	0	1	0	0	0	17689	1117	39	1	1332	1	ZFP2	5	178359644	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	27157141	178359644	2555616	46	4406											
FOXC1	2296	hgsc.bcm.edu	37	chr6	1611345	1611345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgcagccgccgcccgtgcGcatccaggacatcaagaccg	11	18	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:1611345G>T	ENST00000380874.2	+	1	665	c.665G>T	c.(664-666)cGc>cTc	p.R222L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	222					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CCGCCCGTGCGCATCCAGGAC	0.811																																					p.R222L	Pancreas(133;719 1821 3197 26645 35015)	.											.	FOXC1-227	0			c.G665T						.						2	2	2					6																	1611345		998	2424	3422	SO:0001583	missense	2296	exon1			CCGTGCGCATCCA	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.665G>T	6.37:g.1611345G>T	ENSP00000370256:p.Arg222Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	3	3	NM_001453	0	0	0	0	0	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	g	18.99	3.739466	0.69304	.	.	ENSG00000054598	ENST00000380874	D	0.92545	-3.06	3.76	2.79	0.32731	.	0.456577	0.13691	U	0.369513	D	0.87947	0.6306	L	0.43923	1.385	0.51767	D	0.999932	P	0.52842	0.956	P	0.49276	0.605	D	0.87460	0.2407	10	0.59425	D	0.04	.	12.3689	0.55244	0.0:0.2883:0.7117:0.0	.	222	Q12948	FOXC1_HUMAN	L	222	ENSP00000370256:R222L	ENSP00000370256:R222L	R	+	2	0	FOXC1	1556344	0.001000	0.12720	1.000000	0.80357	0.945000	0.59286	0.785000	0.26830	1.647000	0.50633	0.503000	0.49774	CGC	.		0.811	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			T	1611345	G	T	1611345	3	4	26	1	0	0	0	0	1	0	0	0	6016	1087	38	2	667	2	FOXC1	6	1611345	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		1611345	169503722	47	4407											
TRIM38	10475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	25967015	25967015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagccctcaaagagacggatCaagaaatgtcatgtgaggaa	11	7	3	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:25967015C>G	ENST00000357085.3	+	3	741	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	TRIM38_ENST00000349458.3_Missense_Mutation_p.Q89E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	89					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGAGACGGATCAAGAAATGTC	0.557																																					p.Q89E		.											.	TRIM38-226	0			c.C265G						.						61	58	59					6																	25967015		2203	4300	6503	SO:0001583	missense	10475	exon3			ACGGATCAAGAAA	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.265C>G	6.37:g.25967015C>G	ENSP00000349596:p.Gln89Glu	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	290	56	NM_006355	0	0	0	1	1	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	7.908	0.735837	0.15574	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.39997	1.05;1.05;1.05	4.37	0.184	0.15086	Zinc finger, B-box (3);	1.985980	0.02431	N	0.083617	T	0.09555	0.0235	L	0.33189	0.99	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.22880	0.042;0.042	T	0.05801	-1.0863	10	0.06625	T	0.88	.	4.2249	0.10575	0.1446:0.6008:0.1419:0.1127	.	89;89	B2R862;O00635	.;TRI38_HUMAN	E	89	ENSP00000443976:Q89E;ENSP00000230099:Q89E;ENSP00000349596:Q89E	ENSP00000230099:Q89E	Q	+	1	0	TRIM38	26074994	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.638000	0.05452	0.021000	0.15133	-0.291000	0.09656	CAA	.		0.557	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			G	25967015	C	G	25967015	3	3	26	1	0	0	0	0	1	0	0	0	16560	827	29	3	267	3	TRIM38	6	25967015	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	24355670	25967015	145148052	48	4408											
C6orf10	10665	bcgsc.ca	37	chr6	32307382	32307382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgggaaacttacaaggaGgttcttcagttgtttgtaaa	10	4	2	0	rs1033500	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:32307382G>A	ENST00000447241.2	-	10	555	c.383C>T	c.(382-384)cCt>cTt	p.P128L	C6orf10_ENST00000375007.4_Missense_Mutation_p.P126L|C6orf10_ENST00000375015.4_Missense_Mutation_p.P112L|C6orf10_ENST00000533191.1_Missense_Mutation_p.P112L|C6orf10_ENST00000527965.1_Missense_Mutation_p.P105L|C6orf10_ENST00000442822.2_Missense_Mutation_p.P105L	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	128			P -> L (in dbSNP:rs1033500). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTACAAGGAGGTTCTTCAGT	0.289													G|||	1637	0.326877	0.1354	0.4957	5008	,	,		18144	0.3601		0.3748	False		,,,				2504	0.3824				.		.											.	C6orf10-91	0			.						.	G	LEU/PRO	533,2489		56,421,1034	153	178	169		383	-0.4	0	6	dbSNP_86	169	2143,3275		427,1289,993	yes	missense	C6orf10	NM_006781.3	98	483,1710,2027	AA,AG,GG		39.5533,17.6373,31.7062	possibly-damaging	128/564	32307382	2676,5764	1511	2709	4220	SO:0001583	missense	10665	.			CAAGGAGGTTCTT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.383C>T	6.37:g.32307382G>A	ENSP00000415517:p.Pro128Leu	Somatic	165	2		WXS	Illumina GAIIx	Phase_I	121	5	.	0	0	0	0	0	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	CCDS34422.1	738	0.33791208791208793	56	0.11382113821138211	163	0.45027624309392267	230	0.4020979020979021	289	0.3812664907651715	G	5.755	0.323770	0.10900	0.176373	0.395533	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725;ENST00000532023	T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55	3.69	-0.452	0.12205	.	.	.	.	.	T	0.01320	0.0043	L	0.47716	1.5	0.80722	P	0.0	B;P	0.39157	0.025;0.662	B;B	0.35510	0.012;0.204	T	0.46219	-0.9207	8	0.48119	T	0.1	0.0163	2.6546	0.05008	0.1061:0.3305:0.388:0.1754	rs1033500;rs4121722;rs17855580;rs52812849;rs59799665;rs1033500	112;128	E9PMB1;Q5SRN2	.;CF010_HUMAN	L	105;128;112;112;105;126;112;111;116	ENSP00000411164:P105L;ENSP00000415517:P128L;ENSP00000364155:P112L;ENSP00000431199:P112L;ENSP00000435103:P105L;ENSP00000364146:P126L;ENSP00000432814:P116L	ENSP00000303292:P111L	P	-	2	0	C6orf10	32415360	0.077000	0.21312	0.003000	0.11579	0.012000	0.07955	0.079000	0.14782	-0.105000	0.12132	0.543000	0.68304	CCT	G|0.526;T|0.075		0.289	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		A	32307382	G	A	32307382	3	1	26	1	0	0	0	0	1	0	0	0	2324	1000	35	3	1068	3	C6orf10	6	32307382	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	6340367	32307382	138807685	49	4409											
EEF1A1	1915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	74228419	74228421	+	Splice_Site	DEL	ACC	ACC	-													actttgtttacagccaacttAccaccaattttgtagacatc							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	ACC	ACC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:74228419_74228421delACC	ENST00000316292.9	-	4	1763_1764	c.772_773delGGT	c.(772-774)ggt>t	p.G258del	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Splice_Site_p.G258del|EEF1A1_ENST00000309268.6_Splice_Site_p.G258del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	258					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						CAGCCAACTTACCACCAATTTTG	0.443											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.258_258del		.											.	EEF1A1-226	0			c.772_772del						.																																			SO:0001630	splice_region_variant	1915	exon5			CAACTTACCACCA	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.772+1GGT>-	6.37:g.74228422_74228424delACC		Somatic	173	0	1151	WXS	Illumina GAIIx	Phase_I	186	48	NM_001402	0	0	0	0	0	P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	CCDS4980.1																																																																																			.		0.443	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	In_Frame_Del	-	74228421	ACC	-	74228419	8	5	26	1	0	1	0	1	0	0	1	0	4937	405	14	0	630	0	EEF1A1	6	74228419	Splice_Site	DEL	ACC	TCGA-OR-A5K2-01A-11D-A29I-10	41921037	74228419	96886648	50	4410											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	3	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	26	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	25054957	99283376	71831691	51	4411											
CTGF	1490	hgsc.bcm.edu	37	chr6	132271980	132271980	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag	17	12	0	0	rs6934749		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:132271980T>G	ENST00000367976.3	-	2	419	c.219A>C	c.(217-219)ccA>ccC	p.P73P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													G|||	5008	1	1	1	5008	,	,		7576	1		1	False		,,,				2504	1				p.P73P	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A219C						.						6	8	7					6																	132271980		2100	4127	6227	SO:0001819	synonymous_variant	1490	exon2			GTCGCATGGGTCG	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.219A>C	6.37:g.132271980T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	3	3	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271980	T	G	132271980	2	3	26	1	0	0	0	0	0	0	0	1	4017	1451	51	5		5	CTGF	6	132271980	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	32988604	132271980	38843087	52	4412											
MAP7	9053	hgsc.bcm.edu	37	chr6	136682172	136682172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctctgcctcctcccGctcgcgcagcgcccgctcct	11	22	1	0	rs2076190	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:136682172G>A	ENST00000354570.3	-	12	2082	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	MAP7_ENST00000454590.1_Missense_Mutation_p.R580W|MAP7_ENST00000544465.1_Missense_Mutation_p.R543W|MAP7_ENST00000438100.2_Missense_Mutation_p.R543W|MAP7_ENST00000432797.2_Missense_Mutation_p.R412W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	558			R -> W (in dbSNP:rs2076190). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCCTCCTCCCGCTCGCGCAGC	0.761													G|||	3864	0.771565	0.7156	0.8026	5008	,	,		9294	0.6736		0.8459	False		,,,				2504	0.8497				p.R588W		.											.	MAP7-90	0			c.C1762T						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	3211,1131		1187,837,147	7	8	8		1738,1762,1627,1738,1627,1561,1390,1234,1234,1672	2.8	1	6	dbSNP_96	8	7130,1264		3035,1060,102	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	101,101,101,101,101,101,101,101,101,101	4222,1897,249	AA,AG,GG		15.0584,26.0479,18.805	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	580/772,588/780,543/735,580/772,543/735,521/713,464/656,412/604,412/604,558/750	136682172	10341,2395	2171	4197	6368	SO:0001583	missense	9053	exon12			CCTCCCGCTCGCG	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1672C>T	6.37:g.136682172G>A	ENSP00000346581:p.Arg558Trp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_001198609	0	0	0	2	2	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	1644	0.7527472527472527	337	0.6849593495934959	282	0.7790055248618785	382	0.6678321678321678	643	0.8482849604221636	G	14.45	2.539239	0.45176	0.739521	0.849416	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.89	2.78	0.32641	.	0.296091	0.22491	N	0.059376	T	0.35189	0.0923	M	0.82517	2.595	0.26264	P	0.9785292	D;D;D;D;D;D	0.76494	0.995;0.994;0.995;0.999;0.998;0.998	P;P;P;P;P;P	0.60886	0.751;0.636;0.751;0.809;0.809;0.88	T	0.38779	-0.9645	9	0.52906	T	0.07	-5.3629	10.9226	0.47174	0.0:0.0:0.3457:0.6543	rs2076190;rs2230172;rs6928528	543;543;580;464;521;558	B7Z290;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;MAP7_HUMAN	W	558;580;543;543;412;464	ENSP00000346581:R558W;ENSP00000414712:R580W;ENSP00000445737:R543W;ENSP00000400790:R543W;ENSP00000414879:R412W	ENSP00000344217:R464W	R	-	1	2	MAP7	136723865	0.441000	0.25626	0.960000	0.40013	0.620000	0.37586	1.543000	0.36147	0.988000	0.38734	0.555000	0.69702	CGG	G|0.243;A|0.757		0.761	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		A	136682172	G	A	136682172	3	1	26	1	0	0	0	0	1	0	0	0	9304	1086	38	1	605	1	MAP7	6	136682172	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	4410192	136682172	34432895	53	4413											
IPCEF1	26034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	154533922	154533922	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaaagactgagtctgggaAgcgtgaggagggggtggtgt	19	5	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:154533922A>T	ENST00000265198.4	-	9	671	c.516T>A	c.(514-516)gcT>gcA	p.A172A	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Silent_p.A173A|IPCEF1_ENST00000422970.2_Silent_p.A173A|IPCEF1_ENST00000519344.1_Silent_p.A144A|IPCEF1_ENST00000519091.1_5'UTR	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	172					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GAGTCTGGGAAGCGTGAGGAG	0.408																																					p.A173A		.											.	IPCEF1-90	0			c.T519A						.						163	147	152					6																	154533922		2203	4300	6503	SO:0001819	synonymous_variant	26034	exon10			CTGGGAAGCGTGA	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.516T>A	6.37:g.154533922A>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	138	12	NM_001130699	0	0	0	0	0	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Silent	SNP	ENST00000265198.4	37	CCDS5245.1																																																																																			.		0.408	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		T	154533922	A	T	154533922	2	4	26	1	0	0	0	0	0	0	0	1	7818	59	3	5		5	IPCEF1	6	154533922	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	17851750	154533922	16581145	54	4414											
ARID1B	57492	hgsc.bcm.edu	37	chr6	157099362	157099362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccatgcccaccaccTccaccaccaccacgcactac	2	25	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:157099362T>A	ENST00000350026.5	+	1	300	c.299T>A	c.(298-300)cTc>cAc	p.L100H	ARID1B_ENST00000275248.4_Missense_Mutation_p.L42H|RP11-230C9.3_ENST00000604792.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA|ARID1B_ENST00000367148.1_Missense_Mutation_p.L100H|ARID1B_ENST00000346085.5_Missense_Mutation_p.L100H|MIR4466_ENST00000606121.1_RNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	100	His-rich.				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)		gcccaccacctccaccaccac	0.637																																					p.L100H		.											.	ARID1B-154	0			c.T299A						.						10	17	15					6																	157099362		1859	3596	5455	SO:0001583	missense	57492	exon1			ACCACCTCCACCA	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.299T>A	6.37:g.157099362T>A	ENSP00000055163:p.Leu100His	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	49	4	NM_017519	0	0	0	0	0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	t	7.657	0.684140	0.14907	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248	T;T;T;T	0.75821	1.18;1.18;1.18;-0.97	2.48	0.998	0.19857	.	.	.	.	.	T	0.26557	0.0649	N	0.17082	0.46	0.23421	N	0.997716	P;P;P	0.43352	0.704;0.804;0.688	B;B;B	0.29440	0.047;0.102;0.102	T	0.28996	-1.0026	9	0.87932	D	0	.	0.197	0.00141	0.2086:0.2495:0.2129:0.329	.	100;100;42	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	100;100;100;42	ENSP00000344546:L100H;ENSP00000055163:L100H;ENSP00000356116:L100H;ENSP00000275248:L42H	ENSP00000275248:L42H	L	+	2	0	ARID1B	157141054	0.981000	0.34729	0.995000	0.50966	0.981000	0.71138	0.013000	0.13310	0.890000	0.36211	0.312000	0.20444	CTC	.		0.637	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157099362	T	A	157099362	3	1	26	1	0	0	0	0	1	0	0	0	914	1551	54	5	301	5	ARID1B	6	157099362	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	2565440	157099362	14015705	55	4415											
PRR18	285800	hgsc.bcm.edu	37	chr6	166720806	166720806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgcgcggcagccgcGgactccacgccgcgcagcca	14	21	0	0	rs911203	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7	7	7		825	2.4	1	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		Somatic	1	1		WXS	Illumina GAIIx	Phase_I	2	2	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		C	166720806	G	C	166720806	2	2	26	1	0	0	0	0	0	0	0	1	12632	1103	39	2		2	PRR18	6	166720806	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	9621444	166720806	4394261	56	4416											
TBP	6908	hgsc.bcm.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	10	12	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	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)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q		.											.	TBP-91	0			c.G180A						.						43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	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.180G>A	6.37:g.170871004G>A		Somatic	61	2		WXS	Illumina GAIIx	Phase_I	87	5	NM_003194	0	0	5	5	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	26	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871004	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	4150198	170871004	244063	57	4417			1	19		2	2	13	G		7.519904e-05
TBP	6908	hgsc.bcm.edu	37	chr6	170871016	170871016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcagca	10	14	0	0	rs542031948		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q	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-91	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		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	94	9	NM_003194	0	0	3	3	0	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-OR-A5K2-01A-11D-A29I-10	12	170871016	244051	58	4418			1	19		2	2	13	G		7.519904e-05
EIF3B	8662	hgsc.bcm.edu	37	chr7	2394991	2394991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccccgggcgctggagaaCggcgacgcggacgagccctc	16	15	0	1	rs11551167	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:2394991C>T	ENST00000360876.4	+	1	491	c.435C>T	c.(433-435)aaC>aaT	p.N145N	EIF3B_ENST00000397011.2_Silent_p.N145N	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)		CGCTGGAGAACGGCGACGCGG	0.756													C|||	1173	0.234225	0.0847	0.1513	5008	,	,		9860	0.2808		0.2704	False		,,,				2504	0.41				p.N145N		.											.	EIF3B-68	0			c.C435T						.	C	,	311,3057		24,263,1397	4	4	4		435,435	0.5	1	7	dbSNP_120	4	1454,5336		174,1106,2115	no	coding-synonymous,coding-synonymous	EIF3B	NM_001037283.1,NM_003751.3	,	198,1369,3512	TT,TC,CC		21.4138,9.234,17.3755	,	145/815,145/815	2394991	1765,8393	1684	3395	5079	SO:0001819	synonymous_variant	8662	exon1			GGAGAACGGCGAC	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.435C>T	7.37:g.2394991C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_001037283	0	0	4	7	3		Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																			C|0.787;T|0.213		0.756	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			T	2394991	C	T	2394991	2	4	26	1	0	0	0	0	0	0	0	1	5027	535	19	1		1	EIF3B	7	2394991	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		2394991	156743672	59	4419											
TNRC18	84629	broad.mit.edu	37	chr7	5352548	5352548	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaTgaggacgaggaagaggagga	24	1	0	2	rs112615228		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:5352548T>G	ENST00000430969.1	-	27	8322	c.7974A>C	c.(7972-7974)tcA>tcC	p.S2658S	TNRC18_ENST00000399537.4_Silent_p.S2658S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2658	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)		aggaggaggatgaggacgagg	0.617																																					p.S2658S		.											.	TNRC18-46	0			c.A7974C						.						7	7	7					7																	5352548		1528	3528	5056	SO:0001819	synonymous_variant	84629	exon27			GGAGGATGAGGAC	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.7974A>C	7.37:g.5352548T>G		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	85	3	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.737644	0.00681	.	.	ENSG00000182095	ENST00000399544	.	.	.	.	.	.	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63655	-0.6588	3	0.87932	D	0	.	.	.	.	.	.	.	.	P	1171	.	ENSP00000382459:H1171P	H	-	2	0	TNRC18	5319074	0.757000	0.28394	0.042000	0.18584	0.026000	0.11368	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CAT	T|0.500;A|0.500		0.617	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5352548	T	G	5352548	2	3	26	1	0	0	0	0	0	0	0	1	16386	1451	51	5		5	TNRC18	7	5352548	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	2957557	5352548	153786115	60	4420											
SP8	221833	hgsc.bcm.edu	37	chr7	20824953	20824953	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggagccgccgccgccGcccccgccgccgccgccgct	15	23	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:20824953G>C	ENST00000361443.4	-	3	666	c.429C>G	c.(427-429)ggC>ggG	p.G143G	SP8_ENST00000418710.2_Silent_p.G161G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	143					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cgccgccgccgcccccgccgc	0.736																																					p.G161G		.											.	SP8-91	0			c.C483G						.						2	2	2					7																	20824953		584	1454	2038	SO:0001819	synonymous_variant	221833	exon2			GCCGCCGCCCCCG		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.429C>G	7.37:g.20824953G>C		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	12	3	NM_182700	0	0	0	0	0	Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																			.		0.736	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			C	20824953	G	C	20824953	2	2	26	1	0	0	0	0	0	0	0	1	15015	1074	38	2		2	SP8	7	20824953	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	15472405	20824953	138313710	61	4421											
GLI3	2737	hgsc.bcm.edu	37	chr7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcacgccgtggcccGgcgcatcgtgcggctgcagg	14	18	1	0	rs929387	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4	5	5	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	3	2	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42005678	G	A	42005678	3	1	26	1	0	0	0	0	1	0	0	0	6465	1116	39	1	1753	1	GLI3	7	42005678	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	21180725	42005678	117132985	62	4422											
RAMP3	10268	hgsc.bcm.edu	37	chr7	45197433	45197433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcggccggccagccatggaGactggagcgctgcggcgccc	17	15	0	1	rs67477213	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000496212.1_Silent_p.E2E|RAMP3_ENST00000481345.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					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)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3	3	3		6	2	0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	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.6G>A	7.37:g.45197433G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	3	NM_005856	0	0	4	7	3	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45197433	G	A	45197433	2	1	26	1	0	0	0	0	0	0	0	1	13068	933	33	3		3	RAMP3	7	45197433	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	3191755	45197433	113941230	63	4423											
CALD1	800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	134644847	134644847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatcccccactgcagcAggcacaccaaataaggtgag	8	13	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:134644847A>G	ENST00000361675.2	+	12	2413	c.2184A>G	c.(2182-2184)gcA>gcG	p.A728A	CALD1_ENST00000543443.1_Silent_p.A478A|CALD1_ENST00000424922.1_Silent_p.A467A|CALD1_ENST00000393118.2_Silent_p.A493A|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Silent_p.A499A|CALD1_ENST00000422748.1_Silent_p.A498A|CALD1_ENST00000361901.2_Silent_p.A473A|CALD1_ENST00000417172.1_Silent_p.A473A|CALD1_ENST00000495522.1_Silent_p.A492A			Q05682	CALD1_HUMAN	caldesmon 1	728					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						CCACTGCAGCAGGCACACCAA	0.443																																					p.A728A		.											.	CALD1-226	0			c.A2184G						.						123	105	111					7																	134644847		2203	4300	6503	SO:0001819	synonymous_variant	800	exon12			TGCAGCAGGCACA	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.2184A>G	7.37:g.134644847A>G		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	224	43	NM_033138	0	0	4	4	0	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																			.		0.443	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		G	134644847	A	G	134644847	2	3	26	1	0	0	0	0	0	0	0	1	2588	175	7	4		4	CALD1	7	134644847	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	89447414	134644847	24493816	64	4424											
KIAA1549	57670	bcgsc.ca	37	chr7	138602432	138602432	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactcggcatcagagacagaGacgcaggtgcttccgaaggc	13	12	1	2	rs61734132	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:138602432G>C	ENST00000422774.1	-	2	1988	c.1940C>G	c.(1939-1941)tCt>tGt	p.S647C	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S647C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S597C			Q9HCM3	K1549_HUMAN	KIAA1549	647	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGAGACAGAGACGCAGGTGC	0.498			O	BRAF	pilocytic astrocytoma								G|||	266	0.053115	0.0257	0.0245	5008	,	,		20591	0		0.0706	False		,,,				2504	0.1472				p.S647C	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.C1940G						.	G	CYS/SER,CYS/SER	114,3822		0,114,1854	33	36	35		1940,1940	1.1	0	7	dbSNP_129	35	574,7742		25,524,3609	yes	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	112,112	25,638,5463	CC,CG,GG		6.9024,2.8963,5.6154	possibly-damaging,possibly-damaging	647/1951,647/1935	138602432	688,11564	1968	4158	6126	SO:0001583	missense	57670	exon2			GACAGAGACGCAG		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1940C>G	7.37:g.138602432G>C	ENSP00000416040:p.Ser647Cys	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	67	4	NM_020910	0	0	0	0	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	69	0.03159340659340659	7	0.014227642276422764	11	0.03038674033149171	0	0.0	51	0.06728232189973615	G	13.82	2.350317	0.41599	0.028963	0.069024	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26660	1.72;1.73;1.73	4.25	1.11	0.20524	.	0.852017	0.10173	N	0.706894	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	D;D	0.65815	0.992;0.995	P;P	0.58873	0.707;0.847	T	0.08827	-1.0703	10	0.54805	T	0.06	.	7.3179	0.26511	0.3422:0.0:0.6578:0.0	rs61734132	647;647	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	C	647;597;647	ENSP00000406661:S647C;ENSP00000242365:S597C;ENSP00000416040:S647C	ENSP00000242365:S597C	S	-	2	0	KIAA1549	138252972	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.901000	0.28445	0.427000	0.26145	0.591000	0.81541	TCT	G|0.937;C|0.063		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138602432	G	C	138602432	3	2	26	1	0	0	0	0	1	0	0	0	8271	942	33	3	3988	3	KIAA1549	7	138602432	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	3957585	138602432	20536231	65	4425											
GBX1	2636	hgsc.bcm.edu	37	chr7	150864240	150864240	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggggttgtttcgggcGgcagtggcggcggcggcggc	23	10	0	0	rs13241978	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr7:150864240G>C	ENST00000297537.4	-	1	395	c.396C>G	c.(394-396)gcC>gcG	p.A132A	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	132	Ala-rich.|Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTTCGggcggcagtggcgg	0.751													G|||	1447	0.288938	0.3971	0.3069	5008	,	,		9229	0.3433		0.2217	False		,,,				2504	0.1431				p.A132A		.											.	GBX1-68	0			c.C396G						.	G		1127,2329		197,733,798	7	10	9		396	0.2	0	7	dbSNP_121	9	1736,6108		240,1256,2426	no	coding-synonymous	GBX1	NM_001098834.1		437,1989,3224	CC,CG,GG		22.1316,32.61,25.3363		132/364	150864240	2863,8437	1728	3922	5650	SO:0001819	synonymous_variant	2636	exon1			TCGGGCGGCAGTG	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.396C>G	7.37:g.150864240G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001098834	0	0	0	0	0		Silent	SNP	ENST00000297537.4	37	CCDS43682.1																																																																																			G|0.699;C|0.301		0.751	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			C	150864240	G	C	150864240	2	2	26	1	0	0	0	0	0	0	0	1	6305	1103	39	2		2	GBX1	7	150864240	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	12261808	150864240	8274423	66	4426											
MSR1	4481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	16032762	16032762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagggcaatcagtgcagCtttgaaggacttcagtttct	11	7	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:16032762C>T	ENST00000262101.5	-	3	272	c.151G>A	c.(151-153)Gct>Act	p.A51T	MSR1_ENST00000445506.2_Missense_Mutation_p.A69T|MSR1_ENST00000381998.4_Missense_Mutation_p.A51T|MSR1_ENST00000355282.2_Missense_Mutation_p.A51T|MSR1_ENST00000350896.3_Missense_Mutation_p.A51T|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	51					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATCAGTGCAGCTTTGAAGGAC	0.413																																					p.A51T		.											.	MSR1-91	0			c.G151A						.						159	153	155					8																	16032762		2203	4300	6503	SO:0001583	missense	4481	exon3			GTGCAGCTTTGAA	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.151G>A	8.37:g.16032762C>T	ENSP00000262101:p.Ala51Thr	Somatic	124	1		WXS	Illumina GAIIx	Phase_I	113	31	NM_138715	0	0	1	1	0	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141206	0.37825	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960	D;D;D;D;D;T	0.90261	-2.28;-2.04;-2.03;-2.28;-2.64;1.33	5.34	-1.29	0.09288	Macrophage scavenger receptor (1);	0.767730	0.11909	N	0.517875	D	0.83353	0.5236	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.26081	0.01;0.041;0.141;0.01	B;B;B;B	0.22753	0.007;0.016;0.041;0.007	T	0.67321	-0.5700	10	0.21014	T	0.42	.	8.6678	0.34132	0.0:0.3701:0.0:0.6299	.	69;51;51;51	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	T	51;51;69;51;51;51	ENSP00000262100:A51T;ENSP00000262101:A51T;ENSP00000405453:A69T;ENSP00000347430:A51T;ENSP00000371428:A51T;ENSP00000427905:A51T	ENSP00000262101:A51T	A	-	1	0	MSR1	16077133	0.011000	0.17503	0.295000	0.24960	0.968000	0.65278	-1.210000	0.02999	-0.114000	0.11936	0.650000	0.86243	GCT	.		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			T	16032762	C	T	16032762	3	4	26	1	0	0	0	0	1	0	0	0	9924	797	28	3	1284	3	MSR1	8	16032762	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		16032762	130331260	67	4427											
PXDNL	137902	hgsc.bcm.edu	37	chr8	52321843	52321843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacactgtggcgaccagccGgggcggcgggaggggctggc	20	13	0	0	rs11992240	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:52321843G>C	ENST00000356297.4	-	17	2441	c.2341C>G	c.(2341-2343)Cgg>Ggg	p.R781G	PXDNL_ENST00000543296.1_Missense_Mutation_p.R781G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	781				R -> G (in Ref. 4; BAD18663). {ECO:0000305}.	hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCGACCAGCCGGGGCGGCGGG	0.746													G|||	704	0.140575	0.1241	0.0735	5008	,	,		8329	0.2768		0.0895	False		,,,				2504	0.1227				p.R781G		.											.	PXDNL-70	0			c.C2341G						.	G	GLY/ARG	295,2709		13,269,1220	4	4	4		2341	2.4	0.1	8	dbSNP_120	4	438,6260		13,412,2924	no	missense	PXDNL	NM_144651.4	125	26,681,4144	CC,CG,GG		6.5393,9.8202,7.5551	probably-damaging	781/1464	52321843	733,8969	1502	3349	4851	SO:0001583	missense	137902	exon17			CCAGCCGGGGCGG		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.2341C>G	8.37:g.52321843G>C	ENSP00000348645:p.Arg781Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	333	0.15247252747252749	81	0.16463414634146342	29	0.08011049723756906	152	0.26573426573426573	71	0.09366754617414248	G	14.76	2.632963	0.47049	0.098202	0.065393	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.72505	-0.66;-0.66	3.62	2.44	0.29823	.	.	.	.	.	T	0.00073	0.0002	H	0.99104	4.43	0.37278	P	0.09228000000000003	D	0.89917	1.0	D	0.97110	1.0	T	0.07849	-1.0751	8	0.87932	D	0	.	8.0524	0.30585	0.0:0.0:0.4354:0.5646	rs11992240	781	A1KZ92	PXDNL_HUMAN	G	781	ENSP00000348645:R781G;ENSP00000444865:R781G	ENSP00000348645:R781G	R	-	1	2	PXDNL	52484396	0.660000	0.27420	0.096000	0.21009	0.007000	0.05969	0.459000	0.21908	0.396000	0.25283	-0.516000	0.04426	CGG	G|0.840;C|0.160		0.746	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52321843	G	C	52321843	3	2	26	1	0	0	0	0	1	0	0	0	12893	1115	39	2	2078	2	PXDNL	8	52321843	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	36289081	52321843	94042179	68	4428											
FZD6	8323	bcgsc.ca	37	chr8	104343686	104343686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctctgcttgttcacccGgtttcaggagtgagaaaaga	10	9	3	2	rs1053917	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:104343686G>A	ENST00000358755.4	+	7	2387	c.2070G>A	c.(2068-2070)ccG>ccA	p.P690P	FZD6_ENST00000540287.1_Silent_p.P385P|FZD6_ENST00000523739.1_Silent_p.P658P|FZD6_ENST00000522566.1_Silent_p.P690P	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	690					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTGTTCACCCGGTTTCAGGAG	0.458													g|||	2193	0.437899	0.2829	0.5043	5008	,	,		18114	0.627		0.4493	False		,,,				2504	0.3937				p.P690P		.											.	FZD6-658	0			c.G2070A						.	A	,,	1291,3115	436.4+/-344.6	174,943,1086	115	108	110		2070,1974,2070	-11.4	0	8	dbSNP_86	110	3992,4608	552.9+/-386.2	940,2112,1248	no	coding-synonymous,coding-synonymous,coding-synonymous	FZD6	NM_001164615.1,NM_001164616.1,NM_003506.3	,,	1114,3055,2334	AA,AG,GG		46.4186,29.301,40.6197	,,	690/707,658/675,690/707	104343686	5283,7723	2203	4300	6503	SO:0001819	synonymous_variant	8323	exon7			TCACCCGGTTTCA	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2070G>A	8.37:g.104343686G>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	113	6	NM_003506	0	0	2	2	0	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	CCDS6298.1																																																																																			G|0.585;A|0.415		0.458	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		A	104343686	G	A	104343686	2	1	26	1	0	0	0	0	0	0	0	1	6158	1103	39	1		1	FZD6	8	104343686	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	52021843	104343686	42020336	69	4429											
ATAD2	29028	hgsc.bcm.edu	37	chr8	124382159	124382167	+	In_Frame_Del	DEL	TCATCATCA	TCATCATCA	-													cttcttcatcttcatcatctTcatcatcatcatcatcatca					rs374184884|rs202042646|rs569952795|rs374075349|rs149531312|rs138100797|rs200740522	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	TCATCATCA	TCATCATCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:124382159_124382167delTCATCATCA	ENST00000287394.5	-	7	932_940	c.825_833delTGATGATGA	c.(823-834)gatgatgatgaa>gaa	p.DDD275del	ATAD2_ENST00000521903.1_De_novo_Start_InFrame|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ttcatcatcttcatcatcatcatcatcat	0.378																																					p.275_278del		.											.	ATAD2-92	0			c.825_833del						.																																			SO:0001651	inframe_deletion	29028	exon7			TCATCTTCATCAT	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.825_833delTGATGATGA	8.37:g.124382168_124382176delTCATCATCA	ENSP00000287394:p.Asp275_Asp277del	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	82	21	NM_014109	0	0	0	0	0	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	In_Frame_Del	DEL	ENST00000287394.5	37	CCDS6343.1																																																																																			-|0.250;CAT|0.500;CATCAT|0.250		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		-	124382167	TCATCATCA	-	124382159	7	5	26	1	0	1	0	1	0	0	0	0	1072	1783	62	0	3427	0	ATAD2	8	124382159	In_Frame_Del	DEL	TCATCATCA	TCGA-OR-A5K2-01A-11D-A29I-10	20038473	124382159	21981863	70	4430											
ZFAT	57623	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	135622778	135622778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcgccccagaaagctgtCtggcctcctttcctgagatc	8	15	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:135622778C>A	ENST00000377838.3	-	4	743	c.569G>T	c.(568-570)aGa>aTa	p.R190I	ZFAT_ENST00000429442.2_Missense_Mutation_p.R178I|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520727.1_Missense_Mutation_p.R178I|ZFAT_ENST00000520356.1_Missense_Mutation_p.R178I|ZFAT_ENST00000520214.1_Missense_Mutation_p.R178I	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	190					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGAAAGCTGTCTGGCCTCCTT	0.473																																					p.R190I		.											.	ZFAT-90	0			c.G569T						.						113	111	112					8																	135622778		1944	4119	6063	SO:0001583	missense	57623	exon4			AGCTGTCTGGCCT	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.569G>T	8.37:g.135622778C>A	ENSP00000367069:p.Arg190Ile	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	157	12	NM_020863	0	0	0	0	0	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568527	0.28003	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.45276	3.02;2.95;2.96;2.95;2.95;0.9	5.36	-0.835	0.10775	.	0.643270	0.15692	N	0.249364	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B;B;B	0.21381	0.055;0.001;0.002	B;B;B	0.15870	0.014;0.002;0.002	T	0.20042	-1.0287	10	0.23302	T	0.38	-4.508	7.9309	0.29901	0.1102:0.2852:0.5268:0.0778	.	178;178;190	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	I	178;178;178;190;178;178;178;128	ENSP00000427879:R178I;ENSP00000427831:R178I;ENSP00000394501:R178I;ENSP00000367069:R190I;ENSP00000428483:R178I;ENSP00000429983:R128I	ENSP00000326997:R178I	R	-	2	0	ZFAT	135691960	0.001000	0.12720	0.050000	0.19076	0.792000	0.44763	1.019000	0.30014	-0.044000	0.13491	0.655000	0.94253	AGA	.		0.473	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135622778	C	A	135622778	3	1	26	1	0	0	0	0	1	0	0	0	17680	913	32	3	3214	3	ZFAT	8	135622778	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	11240619	135622778	10741244	71	4431											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	3	3	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	26	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	8756090	144378868	1985154	72	4432											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990528	144990528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggtgcgggagccAgcggtagagccggagccgct	19	13	0	1	rs7014582	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000354589.3_Silent_p.A4487A|PLEC_ENST00000436759.2_Silent_p.A4514A|PLEC_ENST00000398774.2_Silent_p.A4455A|PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000345136.3_Silent_p.A4487A|PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000356346.3_Silent_p.A4473A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12	16	15		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	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.13872T>C	8.37:g.144990528A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_201380	0	0	13	30	17	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144990528	A	G	144990528	2	3	26	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144990528	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	611660	144990528	1373494	73	4433			2	20		4	4	11257	N	C_A	5.547458e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000356346.3_Silent_p.A1955A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_201380	0	0	1	1	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	26	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	7662	144998190	1365832	74	4434			2	20		4	4	11257	N	C_A	5.547458e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000356346.3_Silent_p.A1546A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	1	1		WXS	Illumina GAIIx	Phase_I	9	6	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	26	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	1227	144999417	1364605	75	4435			2	20		4	4	11257	N	C_A	5.547458e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000356346.3_Silent_p.L1170L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_201380	0	0	1	3	2	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	26	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2367	145001784	1362238	76	4436			2	20		4	4	11257	N	C_A	5.547458e-05
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	26	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		5832728	135380703	77	4437											
FBP2	8789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	97355868	97355868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccggccttgcgcacagcCgaggagatggctttgatggc	15	11	0	3	rs370129734		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr9:97355868C>T	ENST00000375337.3	-	1	207	c.141G>A	c.(139-141)tcG>tcA	p.S47S		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	47					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGCGCACAGCCGAGGAGATGG	0.647													C|||	1	0.000199681	0	0	5008	,	,		17119	0		0	False		,,,				2504	0.001				p.S47S		.											.	FBP2-226	0			c.G141A						.	C		1,4405	2.1+/-5.4	0,1,2202	88	72	78		141	-10.2	0.3	9		78	0,8600		0,0,4300	no	coding-synonymous	FBP2	NM_003837.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		47/340	97355868	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8789	exon1			CACAGCCGAGGAG	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.141G>A	9.37:g.97355868C>T		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	310	44	NM_003837	0	0	0	0	0	Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	CCDS6711.1																																																																																			.		0.647	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		T	97355868	C	T	97355868	2	4	26	1	0	0	0	0	0	0	0	1	5728	639	23	1		1	FBP2	9	97355868	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	91523140	97355868	43857563	78	4438											
PAEP	5047	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	138457640	138457640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccacagagccgtgccGtttctaggtgagctcctgcc	10	16	1	2	rs143616209|rs537242473	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr9:138457640G>A	ENST00000479141.1	+	6	580	c.536G>A	c.(535-537)cGt>cAt	p.R179H	PAEP_ENST00000371766.2_Missense_Mutation_p.R179H|PAEP_ENST00000277508.5_Missense_Mutation_p.R179H	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	179					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GAGCCGTGCCGTTTCTAGGTG	0.617													.|||	4	0.000798722	0	0	5008	,	,		18967	0.001		0.003	False		,,,				2504	0				p.R179H		.											.	PAEP-68	0			c.G536A						.	G	HIS/ARG,HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	172	172	172		536,536	-1.9	0	9	dbSNP_134	172	36,8564	24.6+/-71.5	0,36,4264	yes	missense,missense	PAEP	NM_001018049.1,NM_002571.2	29,29	0,43,6460	AA,AG,GG		0.4186,0.1589,0.3306	benign,benign	179/181,179/181	138457640	43,12963	2203	4300	6503	SO:0001583	missense	5047	exon6			CGTGCCGTTTCTA		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.536G>A	9.37:g.138457640G>A	ENSP00000417898:p.Arg179His	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	247	41	NM_002571	0	0	0	0	0	Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	CCDS35173.1	4	0.0018315018315018315	0	0.0	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	G	0.193	-1.051438	0.01981	0.001589	0.004186	ENSG00000122133	ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T;T;T	0.58358	1.76;1.76;1.76;0.34	0.967	-1.93	0.07594	Calycin-like (1);Calycin (1);	.	.	.	.	T	0.29288	0.0729	L	0.34521	1.04	0.09310	N	1	B;B;B	0.28850	0.0;0.004;0.225	B;B;B	0.20184	0.0;0.0;0.028	T	0.14172	-1.0482	9	0.17369	T	0.5	.	0.7307	0.00956	0.2411:0.2017:0.3564:0.2008	.	157;142;179	P09466-2;A6XNE0;P09466	.;.;PAEP_HUMAN	H	179;144;179;179;131	ENSP00000417898:R179H;ENSP00000360831:R179H;ENSP00000277508:R179H;ENSP00000401933:R131H	ENSP00000277508:R179H	R	+	2	0	PAEP	137597461	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.215000	0.02985	-3.000000	0.00276	-1.857000	0.00563	CGT	G|0.997;A|0.003		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		A	138457640	G	A	138457640	3	1	26	1	0	0	0	0	1	0	0	0	11421	1145	40	1	558	1	PAEP	9	138457640	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	41101772	138457640	2755791	79	4439											
INPP5E	56623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	139324136	139324136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaacttcaagaaacGgagcagatggtgctggagtt	12	7	2	2	rs201735585		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr9:139324136G>A	ENST00000371712.3	-	10	2328	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TTCAAGAAACGGAGCAGATGG	0.468																																					p.S642S		.											.	INPP5E-227	0			c.C1926T						.						248	232	237					9																	139324136		2203	4300	6503	SO:0001819	synonymous_variant	56623	exon10			AGAAACGGAGCAG	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1926C>T	9.37:g.139324136G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	209	41	NM_019892	0	0	12	14	2	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	CCDS7000.1																																																																																			G|0.999;A|0.000		0.468	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		A	139324136	G	A	139324136	2	1	26	1	0	0	0	0	0	0	0	1	7784	1103	39	1		1	INPP5E	9	139324136	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	866496	139324136	1889295	80	4440											
NOXA1	10811	hgsc.bcm.edu	37	chr9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctctctgggggaCctggtgcgcgcctggcacct	15	15	1	0	rs112864733	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000475006.1_5'Flank|EXD3_ENST00000342129.4_5'Flank|EXD3_ENST00000340951.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000479452.1_5'Flank	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4	5	5		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	3	3	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			G	140317999	C	G	140317999	3	3	26	1	0	0	0	0	1	0	0	0	10599	506	18	3	20	3	NOXA1	9	140317999	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	993863	140317999	895432	81	4441											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	13	4	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	26	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		47000217	88534530	82	4442											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73466729	73466729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccgaggacgtgccacGcgagttccgggtggtctggc	17	11	1	0	rs370107953	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:73466729G>A	ENST00000224721.6	+	25	3049	c.3044G>A	c.(3043-3045)cGc>cAc	p.R1015H	CDH23_ENST00000299366.7_Missense_Mutation_p.R1055H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1010	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACGTGCCACGCGAGTTCCGG	0.652													G|||	2	0.000399361	0	0.0014	5008	,	,		19528	0		0.001	False		,,,				2504	0				p.R1010H		.											.	CDH23-563	0			c.G3029A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4320		0,0,2160	45	56	52		3029,3029,3029	5.3	0.3	10		52	3,8507		0,3,4252	no	missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	29,29,29	0,3,6412	AA,AG,GG		0.0353,0.0,0.0234	probably-damaging,probably-damaging,probably-damaging	1010/1382,1010/1062,1010/3355	73466729	3,12827	2160	4255	6415	SO:0001583	missense	64072	exon25			TGCCACGCGAGTT	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.3044G>A	10.37:g.73466729G>A	ENSP00000224721:p.Arg1015His	Somatic	325	0		WXS	Illumina GAIIx	Phase_I	600	136	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	19.91	3.914173	0.72983	0.0	3.53E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.28	5.28	0.74379	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.76076	0.3937	L	0.52266	1.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.986;0.998;0.992	T	0.77696	-0.2491	9	0.66056	D	0.02	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	1010;1013;1010	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	H	1015;1010;1010;1013;1013;527	.	ENSP00000224721:R1015H	R	+	2	0	CDH23	73136735	1.000000	0.71417	0.273000	0.24645	0.147000	0.21601	9.827000	0.99397	2.468000	0.83385	0.561000	0.74099	CGC	.		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73466729	G	A	73466729	3	1	26	1	0	0	0	0	1	0	0	0	3115	1087	38	1	3354	1	CDH23	10	73466729	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	26466512	73466729	62068018	83	4443											
ZNF503	84858	hgsc.bcm.edu	37	chr10	77159791	77159791	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgggcgtgaatggctgGcaggtggcgctcggtacccg	18	11	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:77159791G>T	ENST00000372524.4	-	2	1143	c.657C>A	c.(655-657)tgC>tgA	p.C219*	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503_ENST00000535216.1_Nonsense_Mutation_p.C219*|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	219	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)					TGAATGGCTGGCAGGTGGCGC	0.751																																					p.C219X		.											.	ZNF503-91	0			c.C657A						.						6	7	7					10																	77159791		1999	3938	5937	SO:0001587	stop_gained	84858	exon2			TGGCTGGCAGGTG	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.657C>A	10.37:g.77159791G>T	ENSP00000361602:p.Cys219*	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	61	4	NM_032772	0	0	3	3	0	Q8NAC5|Q96E25|Q96IJ0	Nonsense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	39	7.434716	0.98282	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-11.3267	17.0205	0.86432	0.0:0.0:1.0:0.0	.	.	.	.	X	219	.	ENSP00000361594:C219X	C	-	3	2	ZNF503	76829797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.779000	0.75057	2.223000	0.72356	0.549000	0.68633	TGC	.		0.751	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77159791	G	T	77159791	4	4	26	1	0	0	0	0	0	1	0	0	17999	1195	42	3	1287	3	ZNF503	10	77159791	Nonsense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	3693062	77159791	58374956	84	4444											
NEURL	9148	hgsc.bcm.edu	37	chr10	105344756	105344756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggccggccgacctgccTttcagccctgaggccctggt	13	17	1	1	rs2236209	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:105344756T>C	ENST00000369780.4	+	4	1522	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P	NEURL_ENST00000369777.2_Silent_p.P354P	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		371	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCGACCTGCCTTTCAGCCCTG	0.731													C|||	2650	0.529153	0.3964	0.5173	5008	,	,		11202	0.6478		0.5378	False		,,,				2504	0.5859				p.P371P		.											.	NEURL-226	0			c.T1113C						.	C		1415,2517		309,797,860	6	5	5		1113	2.7	1	10	dbSNP_98	5	3978,3894		1122,1734,1080	no	coding-synonymous	NEURL	NM_004210.4		1431,2531,1940	CC,CT,TT		49.4665,35.9868,45.6879		371/575	105344756	5393,6411	1966	3936	5902	SO:0001819	synonymous_variant	9148	exon4			CCTGCCTTTCAGC																												ENST00000369780.4:c.1113T>C	10.37:g.105344756T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	3	3	NM_004210	0	0	0	0	0	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	CCDS7551.1																																																																																			T|0.455;C|0.545		0.731	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			C	105344756	T	C	105344756	2	2	26	1	0	0	0	0	0	0	0	1	10384	1596	56	4		4	NEURL	10	105344756	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	28184965	105344756	30189991	85	4445											
PTPRE	5791	broad.mit.edu;bcgsc.ca	37	chr10	129871714	129871714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactatcgtgatgctgacGgaggtgcaggagagagagca	15	8	0	4	rs376614299		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:129871714G>A	ENST00000254667.3	+	17	1857	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	PTPRE_ENST00000419012.2_Silent_p.T526T|PTPRE_ENST00000306042.5_Silent_p.T468T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	526	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)	TGATGCTGACGGAGGTGCAGG	0.592																																					p.T526T	Colon(52;977 1184 20575 41685)	.											.	PTPRE-227	0			c.G1578A						.	G	,	0,4406		0,0,2203	100	85	90		1578,1404	-9.5	0	10		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRE	NM_006504.4,NM_130435.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	526/701,468/643	129871714	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5791	exon17			GCTGACGGAGGTG	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.1578G>A	10.37:g.129871714G>A		Somatic	249	0		WXS	Illumina GAIIx	Phase_I	275	11	NM_006504	0	0	5	5	0	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																			.		0.592	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			A	129871714	G	A	129871714	2	1	26	1	0	0	0	0	0	0	0	1	12845	1103	39	1		1	PTPRE	10	129871714	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	24526958	129871714	5663033	86	4446											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134218296	134218296	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccccccgagaccaccCgccccgagccacccccgccc	7	26	1	1	rs10747057	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:134218296C>G	ENST00000305233.5	+	2	351	c.292C>G	c.(292-294)Cgc>Ggc	p.R98G	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R98G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	98	Pro-rich.		R -> G (in dbSNP:rs10747057). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGAGACCACCCGCCCCGAGCC	0.756													G|||	2967	0.592452	0.7065	0.5461	5008	,	,		5878	0.6954		0.4563	False		,,,				2504	0.5051				p.R98G		.											.	PWWP2B-90	0			c.C292G						.	G	GLY/ARG,GLY/ARG	2822,1070		1079,664,203	6	9	8		292,292	2.8	0	10	dbSNP_120	8	3931,3905		1096,1739,1083	no	missense,missense	PWWP2B	NM_001098637.1,NM_138499.3	125,125	2175,2403,1286	GG,GC,CC		49.8341,27.4923,42.4198	benign,benign	98/500,98/591	134218296	6753,4975	1946	3918	5864	SO:0001583	missense	170394	exon2			ACCACCCGCCCCG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.292C>G	10.37:g.134218296C>G	ENSP00000306324:p.Arg98Gly	Somatic	1	1		WXS	Illumina GAIIx	Phase_I	6	6	NM_001098637	0	0	0	16	16	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	1241	0.5682234432234432	337	0.6849593495934959	177	0.4889502762430939	394	0.6888111888111889	333	0.4393139841688654	G	0.032	-1.327586	0.01309	0.725077	0.501659	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54675	0.56;1.56	2.77	2.77	0.32553	.	1.934230	0.03132	N	0.165319	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.23302	T	0.38	0.1321	1.7392	0.02948	0.1217:0.2122:0.4474:0.2187	rs10747057;rs57970936	98	Q6NUJ5	PWP2B_HUMAN	G	98	ENSP00000306324:R98G;ENSP00000357598:R98G	ENSP00000306324:R98G	R	+	1	0	PWWP2B	134068286	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.230000	0.02942	0.744000	0.32741	-0.224000	0.12420	CGC	C|0.431;G|0.569		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		G	134218296	C	G	134218296	3	3	26	1	0	0	0	0	1	0	0	0	12891	652	23	2	298	2	PWWP2B	10	134218296	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	4346582	134218296	1316451	87	4447											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000148	135000148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaattccagaaggagcTaggcagctggaaagtgcagc	15	7	0	2	rs3810965	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368571.2_Silent_p.A367A|KNDC1_ENST00000368572.2_Silent_p.A432A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595				p.A432A		.											.	KNDC1-229	0			c.T1296C						.			719,3683		63,593,1545	26	32	30		1296	-4.2	0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442	exon6			AGGAGCTAGGCAG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1296T>C	10.37:g.135000148T>C		Somatic	6	1		WXS	Illumina GAIIx	Phase_I	9	5	NM_152643	0	0	6	6	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.607;C|0.393		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135000148	T	C	135000148	2	2	26	1	0	0	0	0	0	0	0	1	8453	1509	53	4		4	KNDC1	10	135000148	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	781852	135000148	534599	88	4448											
MUC2	4583	hgsc.bcm.edu	37	chr11	1093014	1093014	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accacgacacccatcaccacCaccactacggtgaccccaac	4	21	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:1093014C>G	ENST00000441003.2	+	30	4860	c.4833C>G	c.(4831-4833)acC>acG	p.T1611T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_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)	ccatcaccaccaccactacgg	0.622																																					p.T1611T		.											.	MUC2-90	0			c.C4833G						.						66	110	94					11																	1093014		1826	3408	5234	SO:0001819	synonymous_variant	4583	exon30			CACCACCACCACT	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.4833C>G	11.37:g.1093014C>G		Somatic	106	2		WXS	Illumina GAIIx	Phase_I	148	11	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093014	C	G	1093014	2	3	26	1	0	0	0	0	0	0	0	1	10013	581	21	3		3	MUC2	11	1093014	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		1093014	133913502	89	4449											
MUC5B	727897	hgsc.bcm.edu;bcgsc.ca	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	159	13	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	26	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	160966	1253980	133752536	90	4450											
CHRNA10	57053	hgsc.bcm.edu	37	chr11	3688801	3688801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgcagcgccgcgcgGccgcacatccagttggtgcc	15	16	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:3688801G>A	ENST00000250699.2	-	4	627	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Silent_p.G3G|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	186					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCGCCGCGCGGCCGCACATCC	0.716																																					p.P186S	Melanoma(153;17 1869 2949 7120 36888)	.											.	CHRNA10-91	0			c.C556T						.						8	7	7					11																	3688801		2041	4023	6064	SO:0001583	missense	57053	exon4			CGCGCGGCCGCAC	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.556C>T	11.37:g.3688801G>A	ENSP00000250699:p.Pro186Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_020402	0	0	0	0	0		Missense_Mutation	SNP	ENST00000250699.2	37	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	3.708	-0.060207	0.07317	.	.	ENSG00000129749	ENST00000250699	T	0.78481	-1.18	4.68	1.62	0.23740	Neurotransmitter-gated ion-channel ligand-binding (3);	0.508000	0.18124	N	0.150967	T	0.63628	0.2527	N	0.25992	0.78	0.36726	D	0.881466	B	0.15930	0.015	B	0.17979	0.02	T	0.57545	-0.7793	10	0.42905	T	0.14	.	9.3311	0.38023	0.0:0.1404:0.569:0.2906	.	186	Q9GZZ6	ACH10_HUMAN	S	186	ENSP00000250699:P186S	ENSP00000250699:P186S	P	-	1	0	CHRNA10	3645377	0.001000	0.12720	0.892000	0.35008	0.986000	0.74619	0.232000	0.17891	0.159000	0.19401	0.462000	0.41574	CCG	.		0.716	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			A	3688801	G	A	3688801	3	1	26	1	0	0	0	0	1	0	0	0	3389	1203	42	3	804	3	CHRNA10	11	3688801	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	2434821	3688801	131317715	91	4451											
DGKZ	8525	hgsc.bcm.edu	37	chr11	46387868	46387868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccctggagaggggcagcAgcggcccagcagcgtggggc	20	12	0	1	rs1317826	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:46387868A>G	ENST00000454345.1	+	2	187	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	21			Q -> R (in dbSNP:rs1317826). {ECO:0000269|PubMed:9159104}.		blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGGGGCAGCAGCGGCCCAGC	0.701													G|||	2181	0.435503	0.9107	0.2493	5008	,	,		13838	0.1458		0.3111	False		,,,				2504	0.3517				p.Q21R		.											.	DGKZ-676	0			c.A62G						.	G	ARG/GLN,,,,,,	2682,930		1027,628,151	8	9	9		62,,,,,,	4.5	1	11	dbSNP_88	9	2229,5713		386,1457,2128	yes	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	43,,,,,,	1413,2085,2279	GG,GA,AA		28.066,25.7475,42.5048	benign,,,,,,	21/1118,,,,,,	46387868	4911,6643	1806	3971	5777	SO:0001583	missense	8525	exon2			GGCAGCAGCGGCC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.62A>G	11.37:g.46387868A>G	ENSP00000412178:p.Gln21Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	2	2	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	872	0.3992673992673993	446	0.9065040650406504	95	0.26243093922651933	97	0.16958041958041958	234	0.3087071240105541	G	2.360	-0.346808	0.05208	0.742525	0.28066	ENSG00000149091	ENST00000454345	T	0.64260	-0.09	4.53	4.53	0.55603	.	0.291635	0.22594	N	0.058046	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	9	0.02654	T	1	.	13.0604	0.59003	0.0784:0.0:0.9216:0.0	rs1317826	21	Q13574	DGKZ_HUMAN	R	21	ENSP00000412178:Q21R	ENSP00000412178:Q21R	Q	+	2	0	DGKZ	46344444	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	3.832000	0.55783	1.049000	0.40321	-0.213000	0.12676	CAG	A|0.608;G|0.392		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		G	46387868	A	G	46387868	3	3	26	1	0	0	0	0	1	0	0	0	4488	188	7	4	508	4	DGKZ	11	46387868	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	42699067	46387868	88618648	92	4452											
FOLH1	2346	bcgsc.ca	37	chr11	49197416	49197416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtctcttaactgtgtAgaaaagtttccagtaaagcc	7	7	1	1	rs144950409	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:49197416A>G	ENST00000256999.2	-	8	1274	c.1014T>C	c.(1012-1014)tcT>tcC	p.S338S	FOLH1_ENST00000343844.4_Silent_p.S30S|FOLH1_ENST00000533034.1_Silent_p.S323S|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Silent_p.S338S|FOLH1_ENST00000340334.7_Silent_p.S323S	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	338	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTAACTGTGTAGAAAAGTTTC	0.363													A|||	705	0.140775	0.0477	0.1441	5008	,	,		16671	0.1548		0.0895	False		,,,				2504	0.3027				p.S338S		.											.	FOLH1-579	0			c.T1014C						.	A	,,,,	214,4188	131.0+/-167.6	5,204,1992	71	71	71		1014,969,969,90,1014	2	1	11	dbSNP_134	71	781,7815	183.6+/-231.8	38,705,3555	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOLH1	NM_001014986.1,NM_001193471.1,NM_001193472.1,NM_001193473.1,NM_004476.1	,,,,	43,909,5547	GG,GA,AA		9.0856,4.8614,7.655	,,,,	338/720,323/736,323/705,30/443,338/751	49197416	995,12003	2201	4298	6499	SO:0001819	synonymous_variant	2346	exon8			CTGTGTAGAAAAG	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1014T>C	11.37:g.49197416A>G		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_004476	0	0	0	0	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																			A|0.914;G|0.086		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		G	49197416	A	G	49197416	2	3	26	1	0	0	0	0	0	0	0	1	6001	407	15	4		4	FOLH1	11	49197416	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2809548	49197416	85809100	93	4453											
PATL1	219988	hgsc.bcm.edu;bcgsc.ca	37	chr11	59406653	59406653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagttctcgtgttgccAtgaacatcacctccgtcctg	9	13	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:59406653A>G	ENST00000300146.9	-	18	2243	c.2159T>C	c.(2158-2160)aTg>aCg	p.M720T	AP000442.1_ENST00000531311.1_RNA|AP000442.1_ENST00000531108.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	720	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						TCGTGTTGCCATGAACATCAC	0.433																																					p.M720T		.											.	PATL1-1	0			c.T2159C						.						77	74	75					11																	59406653		1908	4118	6026	SO:0001583	missense	219988	exon18			GTTGCCATGAACA	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.2159T>C	11.37:g.59406653A>G	ENSP00000300146:p.Met720Thr	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_152716	0	0	7	7	0	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	A	7.392	0.630882	0.14322	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.41758	0.99	5.91	4.79	0.61399	.	0.326071	0.40222	N	0.001144	T	0.22044	0.0531	N	0.08118	0	0.34183	D	0.671138	B	0.15719	0.014	B	0.30029	0.11	T	0.26121	-1.0112	10	0.14252	T	0.57	-3.2284	6.8736	0.24135	0.7957:0.0:0.0709:0.1334	.	720	Q86TB9	PATL1_HUMAN	T	720;653	ENSP00000300146:M720T	ENSP00000300146:M720T	M	-	2	0	PATL1	59163229	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.429000	0.44758	1.070000	0.40811	0.533000	0.62120	ATG	.		0.433	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		G	59406653	A	G	59406653	3	3	26	1	0	0	0	0	1	0	0	0	11514	217	8	4	161	4	PATL1	11	59406653	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	10209237	59406653	75599863	94	4454											
KAT5	10524	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	65479768	65479768	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgagtccggtgcccggGgcggggcggagggagccagg	24	9	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:65479768G>A	ENST00000377046.3	+	1	284				KAT5_ENST00000341318.4_Silent_p.G10G|KAT5_ENST00000352980.4_Intron|KAT5_ENST00000534650.1_5'Flank|KAT5_ENST00000530446.1_Silent_p.G10G	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5						androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CGGTGCCCGGGGCGGGGCGGA	0.721																																					p.G10G		.											.	KAT5-90	0			c.G30A						.						11	13	12					11																	65479768		2120	4181	6301	SO:0001627	intron_variant	10524	exon1			GCCCGGGGCGGGG	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.12+18G>A	11.37:g.65479768G>A		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	82	32	NM_182710	0	0	1	2	1	B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Silent	SNP	ENST00000377046.3	37	CCDS31610.1																																																																																			.		0.721	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		A	65479768	G	A	65479768	1	1	26	0	1	0	0	0	0	0	0	0	8010	1219	43	3		3	KAT5	11	65479768	Intron	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	6073115	65479768	69526748	95	4455											
CHRDL2	25884	bcgsc.ca	37	chr11	74413872	74413872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtagatctccaccaAgtccgaggcctcgtgttcca	10	14	1	2	rs34528207	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:74413872A>G	ENST00000376332.3	-	9	1583	c.1087T>C	c.(1087-1089)Ttg>Ctg	p.L363L	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.L363L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	363					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					ATCTCCACCAAGTCCGAGGCC	0.642											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1465	0.292532	0.3835	0.1268	5008	,	,		16956	0.3264		0.1332	False		,,,				2504	0.4162				p.L363L		.											.	CHRDL2-90	0			c.T1087C						.	G		1425,2975	683.6+/-404.3	225,975,1000	112	109	110		1087	3.1	1	11	dbSNP_126	110	1180,7406	764.1+/-407.6	70,1040,3183	no	coding-synonymous	CHRDL2	NM_015424.3		295,2015,4183	GG,GA,AA		13.7433,32.3864,20.0601		363/452	74413872	2605,10381	2200	4293	6493	SO:0001819	synonymous_variant	25884	exon9			CCACCAAGTCCGA	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1087T>C	11.37:g.74413872A>G		Somatic	83	0	1152	WXS	Illumina GAIIx	Phase_I	123	6	NM_015424	0	0	0	0	0	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37																																																																																				A|0.791;G|0.209		0.642	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			G	74413872	A	G	74413872	2	3	26	1	0	0	0	0	0	0	0	1	3381	69	3	4		4	CHRDL2	11	74413872	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	8934104	74413872	60592644	96	4456											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	99942557	99942557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacgctagtgctgagctgAagattctaggtatgcagttt	11	6	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr11:99942557A>C	ENST00000524871.1	+	12	1710	c.1420A>C	c.(1420-1422)Aag>Cag	p.K474Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.K474Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.K474Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.K400Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.K474Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	474	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGCTGAGCTGAAGATTCTAGG	0.348																																					p.K474Q		.											.	CNTN5-366	0			c.A1420C						.						102	95	97					11																	99942557		1855	4117	5972	SO:0001583	missense	53942	exon11			GAGCTGAAGATTC	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.1420A>C	11.37:g.99942557A>C	ENSP00000435637:p.Lys474Gln	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	74	20	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687224	0.68157	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090742	0.85682	D	0.000000	T	0.65291	0.2677	L	0.27944	0.81	0.58432	D	0.999994	B;B;B	0.27450	0.179;0.089;0.179	B;B;B	0.42692	0.395;0.223;0.395	T	0.67284	-0.5709	10	0.62326	D	0.03	.	14.7595	0.69596	1.0:0.0:0.0:0.0	.	474;400;474	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Q	474;474;474;400;474	ENSP00000433575:K474Q;ENSP00000436185:K474Q;ENSP00000435637:K474Q;ENSP00000393229:K400Q;ENSP00000279463:K474Q	ENSP00000279463:K474Q	K	+	1	0	CNTN5	99447767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.040000	0.76551	2.081000	0.62600	0.533000	0.62120	AAG	.		0.348	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		C	99942557	A	C	99942557	3	2	26	1	0	0	0	0	1	0	0	0	3651	247	9	5	1458	5	CNTN5	11	99942557	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	25528685	99942557	35063959	97	4457											
TULP3	7289	bcgsc.ca	37	chr12	3046802	3046802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctatcttccaggaaacAaacgtacttggatttaaagg	7	8	1	0	rs33973716	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:3046802A>G	ENST00000448120.2	+	9	981	c.930A>G	c.(928-930)acA>acG	p.T310T	TULP3_ENST00000397132.2_Silent_p.T310T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	310					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCAGGAAACAAACGTACTTG	0.378													a|||	1108	0.221246	0.2163	0.1801	5008	,	,		18091	0.2083		0.2048	False		,,,				2504	0.2873				p.T310T		.											.	TULP3-226	0			c.A930G						.		,	899,3505	341.8+/-306.9	91,717,1394	48	44	45		930,930	-1.2	1	12	dbSNP_126	45	1784,6816	319.9+/-314.4	168,1448,2684	no	coding-synonymous,coding-synonymous	TULP3	NM_001160408.1,NM_003324.4	,	259,2165,4078	GG,GA,AA		20.7442,20.4133,20.6321	,	310/502,310/443	3046802	2683,10321	2202	4300	6502	SO:0001819	synonymous_variant	7289	exon9			GGAAACAAACGTA	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.930A>G	12.37:g.3046802A>G		Somatic	219	1		WXS	Illumina GAIIx	Phase_I	257	8	NM_003324	0	0	0	0	0	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	ENST00000448120.2	37	CCDS8519.1																																																																																			A|0.796;G|0.204		0.378	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		G	3046802	A	G	3046802	2	3	26	1	0	0	0	0	0	0	0	1	16824	117	5	4		4	TULP3	12	3046802	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10		3046802	130805093	98	4458											
IAPP	3375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	21526316	21526316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgcaagtatttctcAttgtgctctctgttgcattg	9	8	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:21526316A>C	ENST00000240652.3	+	2	167	c.31A>C	c.(31-33)Att>Ctt	p.I11L	SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_Missense_Mutation_p.I11L|IAPP_ENST00000539393.1_Missense_Mutation_p.I11L|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	11					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						AGTATTTCTCATTGTGCTCTC	0.358																																					p.I11L		.											.	IAPP-90	0			c.A31C						.						150	140	143					12																	21526316		2203	4300	6503	SO:0001583	missense	3375	exon2			TTTCTCATTGTGC		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.31A>C	12.37:g.21526316A>C	ENSP00000240652:p.Ile11Leu	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	77	10	NM_000415	0	0	0	0	0	Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	CCDS8688.1	.	.	.	.	.	.	.	.	.	.	A	0.415	-0.911025	0.02434	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.76186	-0.99;-0.99;-1.0	5.77	-1.99	0.07457	.	0.724312	0.13182	N	0.407402	T	0.52500	0.1738	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32640	-0.9899	9	0.19147	T	0.46	-0.6687	8.3358	0.32213	0.3841:0.4757:0.1401:0.0	.	11	P10997	IAPP_HUMAN	L	11	ENSP00000437357:I11L;ENSP00000240652:I11L;ENSP00000445980:I11L	ENSP00000240652:I11L	I	+	1	0	IAPP	21417583	0.473000	0.25878	0.000000	0.03702	0.015000	0.08874	0.532000	0.23067	-0.336000	0.08438	-0.313000	0.08912	ATT	.		0.358	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		C	21526316	A	C	21526316	3	2	26	1	0	0	0	0	1	0	0	0	7499	217	8	5	33	5	IAPP	12	21526316	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	18479514	21526316	112325579	99	4459											
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	52159524	52159524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagattattggaaattcaGtgggtgccctgggcaacctg	12	8	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:52159524G>T	ENST00000354534.6	+	16	2792	c.2614G>T	c.(2614-2616)Gtg>Ttg	p.V872L	SCN8A_ENST00000545061.1_Missense_Mutation_p.V872L|SCN8A_ENST00000550891.1_Missense_Mutation_p.V872L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	872					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)	TGGAAATTCAGTGGGTGCCCT	0.443																																					p.V872L		.											.	SCN8A-29	0			c.G2614T						.						59	62	61					12																	52159524		2079	4262	6341	SO:0001583	missense	6334	exon16			AATTCAGTGGGTG	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.2614G>T	12.37:g.52159524G>T	ENSP00000346534:p.Val872Leu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	91	18	NM_014191	0	0	0	0	0	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927062	0.92389	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	N	0.05124	-0.11	0.80722	D	1	P;P;D	0.65815	0.905;0.902;0.995	P;D;D	0.67382	0.517;0.927;0.951	D	0.97938	1.0324	10	0.54805	T	0.06	.	18.4112	0.90552	0.0:0.0:1.0:0.0	.	872;872;872	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	L	872;872;872;872;785	ENSP00000448415:V872L;ENSP00000346534:V872L;ENSP00000440360:V872L;ENSP00000347255:V872L	ENSP00000346534:V872L	V	+	1	0	SCN8A	50445791	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.657000	0.98554	2.763000	0.94921	0.563000	0.77884	GTG	.		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		T	52159524	G	T	52159524	3	4	26	1	0	0	0	0	1	0	0	0	13969	1029	36	3	2672	3	SCN8A	12	52159524	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	30633208	52159524	81692371	100	4460											
PDE1B	5153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54967209	54967209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcagctctgttttccgaTtgatgcaggatgatgagatg	11	7	2	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:54967209T>C	ENST00000243052.3	+	9	1343	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L	PDE1B_ENST00000550620.1_Silent_p.L283L|PDE1B_ENST00000538346.1_Silent_p.L262L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	303	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)	TGTTTTCCGATTGATGCAGGA	0.468																																					p.L303L		.											.	PDE1B-92	0			c.T907C						.						154	135	141					12																	54967209		2203	4300	6503	SO:0001819	synonymous_variant	5153	exon9			TTCCGATTGATGC	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.907T>C	12.37:g.54967209T>C		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	328	65	NM_000924	0	0	3	3	0	Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																			.		0.468	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			C	54967209	T	C	54967209	2	2	26	1	0	0	0	0	0	0	0	1	11673	1490	52	4		4	PDE1B	12	54967209	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	2807685	54967209	78884686	101	4461											
METTL7B	196410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	56075903	56075903	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacctccaatatgagcggtTtgtggtggctcctggagagg	15	9	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:56075903T>A	ENST00000394252.3	+	1	574	c.365T>A	c.(364-366)tTt>tAt	p.F122Y		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	122							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TATGAGCGGTTTGTGGTGGCT	0.572																																					p.F122Y		.											.	METTL7B-514	0			c.T365A						.						91	80	84					12																	56075903		2203	4300	6503	SO:0001583	missense	196410	exon1			AGCGGTTTGTGGT		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"associated with lipid droplets 1"					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.365T>A	12.37:g.56075903T>A	ENSP00000377796:p.Phe122Tyr	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	108	12	NM_152637	0	0	1	1	0	A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634033	0.67130	.	.	ENSG00000170439	ENST00000394252	T	0.10960	2.82	4.96	4.96	0.65561	Methyltransferase type 11 (1);	0.053059	0.85682	D	0.000000	T	0.19685	0.0473	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04216	-1.0968	10	0.02654	T	1	-0.1374	12.6648	0.56835	0.0:0.0:0.0:1.0	.	122	Q6UX53	MET7B_HUMAN	Y	122	ENSP00000377796:F122Y	ENSP00000377796:F122Y	F	+	2	0	METTL7B	54362170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	5.343000	0.65976	2.076000	0.62316	0.533000	0.62120	TTT	.		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		A	56075903	T	A	56075903	3	1	26	1	0	0	0	0	1	0	0	0	9544	1841	64	5	367	5	METTL7B	12	56075903	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	1108694	56075903	77775992	102	4462											
C12orf64	283310	hgsc.bcm.edu;bcgsc.ca	37	chr12	80648862	80648862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcactttacaacttttgAtggtcgacattattctttta	4	8	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:80648862A>G	ENST00000547103.1	+	15	1463	c.1457A>G	c.(1456-1458)gAt>gGt	p.D486G	OTOGL_ENST00000458043.2_Missense_Mutation_p.D486G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	486	VWFD 2. {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						ACAACTTTTGATGGTCGACAT	0.373																																					p.D486G		.											.	.	0			c.A1457G						.						95	78	83					12																	80648862		1803	4030	5833	SO:0001583	missense	283310	exon15			CTTTTGATGGTCG	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.1457A>G	12.37:g.80648862A>G	ENSP00000447211:p.Asp486Gly	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	71	4	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.460881	0.84317	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.78707	-1.2;-1.2	5.37	5.37	0.77165	.	.	.	.	.	D	0.91030	0.7178	H	0.94808	3.585	0.80722	D	1	.	.	.	.	.	.	D	0.93528	0.6867	7	0.87932	D	0	.	15.3632	0.74499	1.0:0.0:0.0:0.0	.	.	.	.	G	486	ENSP00000447211:D486G;ENSP00000400895:D486G	ENSP00000400895:D486G	D	+	2	0	OTOGL	79172993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.673000	0.91186	2.030000	0.59900	0.528000	0.53228	GAT	.		0.373	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		G	80648862	A	G	80648862	3	3	26	1	0	0	0	0	1	0	0	0	1712	333	12	4	1515	4	C12orf64	12	80648862	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	24572959	80648862	53203033	103	4463											
ATP2B1	490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	90018032	90018032	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgcgaccactaaaactgtAactccaataatgaagaactt	5	10	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:90018032A>T	ENST00000428670.3	-	9	1728	c.1272T>A	c.(1270-1272)gtT>gtA	p.V424V	ATP2B1_ENST00000359142.3_Silent_p.V424V|ATP2B1_ENST00000393164.2_Silent_p.V167V|ATP2B1_ENST00000348959.3_Silent_p.V424V|ATP2B1_ENST00000261173.2_Silent_p.V424V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	424					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						CTAAAACTGTAACTCCAATAA	0.398																																					p.V424V		.											.	ATP2B1-516	0			c.T1272A						.						84	77	79					12																	90018032		2203	4300	6503	SO:0001819	synonymous_variant	490	exon8			AACTGTAACTCCA	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.1272T>A	12.37:g.90018032A>T		Somatic	183	1		WXS	Illumina GAIIx	Phase_I	286	68	NM_001001323	0	0	0	0	0	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1																																																																																			.		0.398	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		T	90018032	A	T	90018032	2	4	26	1	0	0	0	0	0	0	0	1	1140	349	13	5		5	ATP2B1	12	90018032	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	9369170	90018032	43833863	104	4464											
BTBD11	121551	hgsc.bcm.edu	37	chr12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgcagtggccctgGgtcaggctcgggctccggcc	17	15	1	0	rs961498	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5	3	3		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	3	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		C	107713511	G	C	107713511	3	2	26	1	0	0	0	0	1	0	0	0	1543	1232	43	3	796	3	BTBD11	12	107713511	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	17695479	107713511	26138384	105	4465											
PITPNM2	57605	hgsc.bcm.edu	37	chr12	123470761	123470761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtggttccgggagCgcagaaagtcgccctggccg	17	11	0	1	rs368519330		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:123470761C>T	ENST00000542749.1	-	24	3926	c.3863G>A	c.(3862-3864)cGc>cAc	p.R1288H	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R1288H|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R1282H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R1009H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1288					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTTCCGGGAGCGCAGAAAGTC	0.736																																					p.R1288H		.											.	PITPNM2-228	0			c.G3863A						.	C	HIS/ARG	0,4212		0,0,2106	6	7	7		3863	4.8	1	12		7	5,8249		0,5,4122	no	missense	PITPNM2	NM_020845.2	29	0,5,6228	TT,TC,CC		0.0606,0.0,0.0401	probably-damaging	1288/1350	123470761	5,12461	2106	4127	6233	SO:0001583	missense	57605	exon25			CGGGAGCGCAGAA	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3863G>A	12.37:g.123470761C>T	ENSP00000437611:p.Arg1288His	Somatic	3	1		WXS	Illumina GAIIx	Phase_I	45	26	NM_020845	0	0	0	0	0	Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265238	0.95399	0.0	6.06E-4	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.52983	0.96;0.97;0.64;0.97	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.74592	-0.3614	10	0.72032	D	0.01	-37.8792	18.4084	0.90542	0.0:1.0:0.0:0.0	.	1282;1288	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	H	1282;1288;1009;1288	ENSP00000280562:R1282H;ENSP00000322218:R1288H;ENSP00000376223:R1009H;ENSP00000437611:R1288H	ENSP00000280562:R1282H	R	-	2	0	PITPNM2	122036714	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.556000	0.82233	2.664000	0.90586	0.561000	0.74099	CGC	.		0.736	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123470761	C	T	123470761	3	4	26	1	0	0	0	0	1	0	0	0	11990	768	27	1	190	1	PITPNM2	12	123470761	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	15757250	123470761	10381134	106	4466											
C12orf65	91574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	123741386	123741386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagacaagatcagttgatcaGaacagaaagctagctcggaa	10	8	2	5	rs573747271	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:123741386G>C	ENST00000253233.1	+	3	953	c.309G>C	c.(307-309)caG>caC	p.Q103H	RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.Q103H|RP11-282O18.3_ENST00000542427.2_RNA|RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000544890.1_RNA|C12orf65_ENST00000429587.2_Missense_Mutation_p.Q103H	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	103	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CAGTTGATCAGAACAGAAAGC	0.373																																					p.Q103H		.											.	C12orf65-90	0			c.G309C						.						55	58	57					12																	123741386		2203	4300	6503	SO:0001583	missense	91574	exon3			TGATCAGAACAGA	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.309G>C	12.37:g.123741386G>C	ENSP00000253233:p.Gln103His	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	98	10	NM_001194995	1	0	28	32	3	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347438	0.41599	.	.	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.86	-8.63	0.00878	Peptide chain release factor class I/class II (1);	0.435148	0.27345	N	0.019788	T	0.16811	0.0404	M	0.85197	2.74	0.23773	N	0.996887	B	0.21452	0.056	B	0.24269	0.052	T	0.16630	-1.0396	10	0.87932	D	0	-8.9987	13.744	0.62863	0.237:0.1078:0.6552:0.0	.	103	Q9H3J6	CL065_HUMAN	H	103	ENSP00000253233:Q103H;ENSP00000390647:Q103H;ENSP00000444843:Q103H;ENSP00000391513:Q103H	ENSP00000253233:Q103H	Q	+	3	2	C12orf65	122307339	0.035000	0.19736	0.323000	0.25347	0.988000	0.76386	-0.454000	0.06770	-1.694000	0.01425	-0.313000	0.08912	CAG	.		0.373	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		C	123741386	G	C	123741386	3	2	26	1	0	0	0	0	1	0	0	0	1713	933	33	3	315	3	C12orf65	12	123741386	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	270625	123741386	10110509	107	4467											
POLE	5426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	133249853	133249853	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgacacagaatacGtggccagagtctgaggagag	13	9	2	5			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr12:133249853G>C	ENST00000320574.5	-	14	1413	c.1370C>G	c.(1369-1371)aCg>aGg	p.T457R	POLE_ENST00000535270.1_Missense_Mutation_p.T430R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					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)	CACAGAATACGTGGCCAGAGT	0.522								DNA polymerases (catalytic subunits)																													p.T457R		.											.	POLE-233	0			c.C1370G						.						169	143	152					12																	133249853		2203	4300	6503	SO:0001583	missense	5426	exon14			GAATACGTGGCCA		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.1370C>G	12.37:g.133249853G>C	ENSP00000322570:p.Thr457Arg	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	299	56	NM_006231	0	0	0	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881450	0.72294	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.39056	4.97;4.97;4.97;1.1	5.37	5.37	0.77165	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	N	0.17082	0.46	0.80722	D	1	P;P	0.51240	0.943;0.822	P;B	0.55455	0.776;0.401	T	0.50197	-0.8856	10	0.62326	D	0.03	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	430;457	F5H1D6;Q07864	.;DPOE1_HUMAN	R	457;468;430;237;392;75	ENSP00000322570:T457R;ENSP00000406383:T468R;ENSP00000445753:T430R;ENSP00000442519:T237R	ENSP00000322570:T457R	T	-	2	0	POLE	131759926	1.000000	0.71417	0.988000	0.46212	0.220000	0.24768	9.807000	0.99171	2.524000	0.85096	0.313000	0.20887	ACG	.		0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		C	133249853	G	C	133249853	3	2	26	1	0	0	0	0	1	0	0	0	12235	1145	40	2	5634	2	POLE	12	133249853	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	9508467	133249853	602042	108	4468											
ENOX1	55068	ucsc.edu	37	chr13	43935562	43935562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtcatcatgttgaggcttgGatcaaagcctgggacacaga	12	8	3	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr13:43935562G>T	ENST00000261488.6	-	6	812	c.235C>A	c.(235-237)Cca>Aca	p.P79T	ENOX1_ENST00000412891.1_Missense_Mutation_p.P79T|ENOX1_ENST00000482207.1_5'Flank|ENOX1_ENST00000540032.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	79					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)		TTGAGGCTTGGATCAAAGCCT	0.433																																					p.P79T		.											.	ENOX1-92	0			c.C235A						.						82	89	87					13																	43935562		2203	4300	6503	SO:0001583	missense	55068	exon6			GGCTTGGATCAAA	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.235C>A	13.37:g.43935562G>T	ENSP00000261488:p.Pro79Thr	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_017993	0	0	0	0	0	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107114	0.77096	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.56611	0.45;0.45	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72510	-0.4271	10	0.72032	D	0.01	-21.7609	19.4346	0.94786	0.0:0.0:1.0:0.0	.	79	Q8TC92	ENOX1_HUMAN	T	79	ENSP00000261488:P79T;ENSP00000415054:P79T	ENSP00000261488:P79T	P	-	1	0	ENOX1	42833562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.471000	0.97696	2.605000	0.88082	0.655000	0.94253	CCA	.		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		T	43935562	G	T	43935562	3	4	26	1	0	0	0	0	1	0	0	0	5142	1174	41	3	1744	3	ENOX1	13	43935562	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		43935562	71234316	109	4469											
TMTC4	84899	broad.mit.edu	37	chr13	101316489	101316489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgaaagtcaggacGgtgagaggccggtaggactt	15	8	1	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr13:101316489G>A	ENST00000376234.3	-	3	453	c.264C>T	c.(262-264)acC>acT	p.T88T	TMTC4_ENST00000342624.5_Silent_p.T107T|TMTC4_ENST00000328767.5_Intron	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	88						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)					AAGTCAGGACGGTGAGAGGCC	0.567																																					p.T107T		.											.	TMTC4-155	0			c.C321T						.						64	72	69					13																	101316489		2015	4175	6190	SO:0001819	synonymous_variant	84899	exon4			CAGGACGGTGAGA		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.264C>T	13.37:g.101316489G>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	72	3	NM_032813	0	0	1	1	0	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																			.		0.567	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		A	101316489	G	A	101316489	2	1	26	1	0	0	0	0	0	0	0	1	16310	1103	39	1		1	TMTC4	13	101316489	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	57380927	101316489	13853389	110	4470											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005537	0	0	0	2	2	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	26	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	10051827	111368316	3801562	111	4471											
PROZ	8858	broad.mit.edu	37	chr13	113814406	113814406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttctggaagaactctTcgagggaaacttggaaaaag	10	7	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr13:113814406T>G	ENST00000375547.2	+	2	156	c.149T>G	c.(148-150)tTc>tGc	p.F50C	PROZ_ENST00000342783.4_Missense_Mutation_p.F72C	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	50	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				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)			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)	GAAGAACTCTTCGAGGGAAAC	0.458																																					p.F72C		.											.	PROZ-90	0			c.T215G						.						119	133	128					13																	113814406		2203	4300	6503	SO:0001583	missense	8858	exon3			AACTCTTCGAGGG	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.149T>G	13.37:g.113814406T>G	ENSP00000364697:p.Phe50Cys	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	12	2	NM_001256134	0	0	0	0	0	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822016	0.32237	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.99098	-5.42;-5.42	4.0	4.0	0.46444	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.323859	0.24742	U	0.035965	D	0.98629	0.9541	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.998;0.997	D;D	0.66351	0.927;0.943	D	0.95350	0.8446	10	0.87932	D	0	.	11.1563	0.48489	0.0:0.0:0.0:1.0	.	72;50	P22891-2;P22891	.;PROZ_HUMAN	C	50;72	ENSP00000364697:F50C;ENSP00000344458:F72C	ENSP00000344458:F72C	F	+	2	0	PROZ	112862407	0.989000	0.36119	0.015000	0.15790	0.319000	0.28217	4.990000	0.63876	1.429000	0.47314	0.260000	0.18958	TTC	.		0.458	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		G	113814406	T	G	113814406	3	3	26	1	0	0	0	0	1	0	0	0	12604	1783	62	5	155	5	PROZ	13	113814406	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	2446090	113814406	1355472	112	4472											
OR4K5	79317	hgsc.bcm.edu	37	chr14	20389714	20389714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatttctgaaatgtcactaGtagtgagaacttcctttcat	7	7	3	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:20389714G>T	ENST00000315915.4	+	1	974	c.949G>T	c.(949-951)Gta>Tta	p.V317L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATGTCACTAGTAGTGAGAAC	0.353																																					p.V317L		.											.	OR4K5-70	0			c.G949T						.						73	84	80					14																	20389714		2190	4297	6487	SO:0001583	missense	79317	exon1			TCACTAGTAGTGA	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.949G>T	14.37:g.20389714G>T	ENSP00000319511:p.Val317Leu	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	61	4	NM_001005483	0	0	0	0	0	Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	0.496	-0.873150	0.02570	.	.	ENSG00000176281	ENST00000315915	T	0.36699	1.24	3.86	0.984	0.19773	.	0.634620	0.13035	N	0.418959	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	10	0.39692	T	0.17	.	7.4398	0.27176	0.3207:0.0:0.6793:0.0	.	317	Q8NGD3	OR4K5_HUMAN	L	317	ENSP00000319511:V317L	ENSP00000319511:V317L	V	+	1	0	OR4K5	19459554	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.770000	0.26618	0.412000	0.25729	-0.142000	0.14014	GTA	.		0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20389714	G	T	20389714	3	4	26	1	0	0	0	0	1	0	0	0	11112	1029	36	3	951	3	OR4K5	14	20389714	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		20389714	86959826	113	4473											
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	2	2	NM_018139	0	0	0	0	0	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	26	1	0	0	0	0	0	0	0	1	1741	639	23	2		2	C14orf104	14	50100683	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	29710969	50100683	57248857	114	4474											
RDH12	145226	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	68191943	68191943	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatccgacaccaaatctatCcgagcctttgctgagggctt	8	13	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:68191943C>T	ENST00000551171.1	+	5	639	c.315C>T	c.(313-315)atC>atT	p.I105I	RDH12_ENST00000267502.3_Silent_p.I105I|RDH12_ENST00000539142.1_Silent_p.I105I	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	105					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)	CCAAATCTATCCGAGCCTTTG	0.527																																					p.I105I		.											.	RDH12-91	0			c.C315T						.						95	90	92					14																	68191943		2203	4300	6503	SO:0001819	synonymous_variant	145226	exon5			ATCTATCCGAGCC	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.315C>T	14.37:g.68191943C>T		Somatic	144	2		WXS	Illumina GAIIx	Phase_I	166	41	NM_152443	0	0	0	0	0	B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	CCDS9787.1																																																																																			.		0.527	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			T	68191943	C	T	68191943	2	4	26	1	0	0	0	0	0	0	0	1	13236	845	30	3		3	RDH12	14	68191943	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	18091260	68191943	39157597	115	4475			3	21		2	2	16	N	G_C	9.399792e-05
RDH12	145226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	68191958	68191958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatccgagcctttgctgaGggctttctggcaggtgaggt	14	9	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:68191958G>A	ENST00000551171.1	+	5	654	c.330G>A	c.(328-330)gaG>gaA	p.E110E	RDH12_ENST00000267502.3_Silent_p.E110E|RDH12_ENST00000539142.1_Silent_p.E110E	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	110					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)	CCTTTGCTGAGGGCTTTCTGG	0.522																																					p.E110E		.											.	RDH12-91	0			c.G330A						.						80	75	77					14																	68191958		2203	4300	6503	SO:0001819	synonymous_variant	145226	exon5			TGCTGAGGGCTTT	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.330G>A	14.37:g.68191958G>A		Somatic	145	1		WXS	Illumina GAIIx	Phase_I	170	40	NM_152443	0	0	0	0	0	B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	CCDS9787.1																																																																																			.		0.522	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			A	68191958	G	A	68191958	2	1	26	1	0	0	0	0	0	0	0	1	13236	991	35	3		3	RDH12	14	68191958	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	15	68191958	39157582	116	4476			3	21		2	2	16	N	G_C	9.399792e-05
C14orf4	64207	hgsc.bcm.edu	37	chr14	77493809	77493809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgttgctgttgctgttg	14	9	0	0	rs61991638		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:77493809C>T	ENST00000238647.3	-	1	1225	c.327G>A	c.(325-327)caG>caA	p.Q109Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	109	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgctgctgttgct	0.687																																					p.Q109Q		.											.	IRF2BPL-90	0			c.G327A						.						2	2	2					14																	77493809		1179	2145	3324	SO:0001819	synonymous_variant	64207	exon1			CTGCTGCTGCTGT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.327G>A	14.37:g.77493809C>T		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	25	5	NM_024496	0	0	5	5	0	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																			C|0.978;T|0.022		0.687	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		T	77493809	C	T	77493809	2	4	26	1	0	0	0	0	0	0	0	1	1778	796	28	3		3	C14orf4	14	77493809	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	9301851	77493809	29855731	117	4477											
C14orf159	80017	broad.mit.edu	37	chr14	91633636	91633636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttttgaaagattctgccaGgtcaacactggtcctctacc	8	12	3	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:91633636G>T	ENST00000523771.1	+	4	774	c.171G>T	c.(169-171)caG>caT	p.Q57H	C14orf159_ENST00000522322.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000521077.2_Missense_Mutation_p.Q57H|C14orf159_ENST00000517877.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000523816.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000298858.4_Missense_Mutation_p.Q57H|C14orf159_ENST00000428926.2_Missense_Mutation_p.Q57H|C14orf159_ENST00000518665.2_Missense_Mutation_p.Q57H|C14orf159_ENST00000518868.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000520328.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000256324.10_Missense_Mutation_p.Q57H|C14orf159_ENST00000519019.1_Missense_Mutation_p.Q57H|C14orf159_ENST00000412671.2_Missense_Mutation_p.Q57H			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	57						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GATTCTGCCAGGTCAACACTG	0.557																																					p.Q57H		.											.	C14orf159-92	0			c.G171T						.						111	105	107					14																	91633636		2203	4300	6503	SO:0001583	missense	80017	exon6			CTGCCAGGTCAAC	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.171G>T	14.37:g.91633636G>T	ENSP00000429655:p.Gln57His	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	117	4	NM_001102366	0	0	23	23	0	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273437	0.59649	.	.	ENSG00000133943	ENST00000521334;ENST00000522837;ENST00000518871;ENST00000298858;ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000523879;ENST00000521077;ENST00000518665;ENST00000518868;ENST00000519019;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000517362;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671;ENST00000517877	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.12	3.29	0.37713	.	0.142736	0.45867	D	0.000334	T	0.45296	0.1335	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0	D;P;P;D;P;D	0.76575	0.988;0.753;0.888;0.925;0.875;0.948	T	0.21586	-1.0241	10	0.35671	T	0.21	.	7.5476	0.27777	0.269:0.0:0.731:0.0	.	57;57;57;57;57;57	Q7Z3D6-6;Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	.;CN159_HUMAN;.;.;.;.	H	57	ENSP00000430022:Q57H;ENSP00000427971:Q57H;ENSP00000429189:Q57H;ENSP00000298858:Q57H;ENSP00000429453:Q57H;ENSP00000256324:Q57H;ENSP00000430666:Q57H;ENSP00000428296:Q57H;ENSP00000428122:Q57H;ENSP00000430137:Q57H;ENSP00000429098:Q57H;ENSP00000428263:Q57H;ENSP00000430318:Q57H;ENSP00000428974:Q57H;ENSP00000428652:Q57H;ENSP00000404343:Q57H;ENSP00000429806:Q57H;ENSP00000429459:Q57H;ENSP00000427953:Q57H;ENSP00000429655:Q57H;ENSP00000429392:Q57H;ENSP00000404196:Q57H;ENSP00000429949:Q57H	ENSP00000256324:Q57H	Q	+	3	2	C14orf159	90703389	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	0.481000	0.22260	0.556000	0.29098	0.561000	0.74099	CAG	.		0.557	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91633636	G	T	91633636	3	4	26	1	0	0	0	0	1	0	0	0	1760	991	35	3	177	3	C14orf159	14	91633636	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	14139827	91633636	15715904	118	4478											
TRMT61A	115708	broad.mit.edu	37	chr14	104001019	104001019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaacgtgcgcactgtcaGcctgccaccgcccgacctgg	10	18	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:104001019G>T	ENST00000389749.4	+	4	838	c.731G>T	c.(730-732)aGc>aTc	p.S244I		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	244						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CGCACTGTCAGCCTGCCACCG	0.697																																					p.S244I		.											.	TRMT61A-90	0			c.G731T						.						15	22	20					14																	104001019		2135	4223	6358	SO:0001583	missense	115708	exon4			CTGTCAGCCTGCC	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.731G>T	14.37:g.104001019G>T	ENSP00000374399:p.Ser244Ile	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	100	5	NM_152307	0	0	1	1	0	A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	CCDS41994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.740375|1.740375	0.30865|0.30865	.|.	.|.	ENSG00000166166|ENSG00000166166	ENST00000299202|ENST00000389749;ENST00000299201	.|T	.|0.45668	.|0.89	4.67|4.67	3.63|3.63	0.41609|0.41609	.|.	.|0.658034	.|0.15514	.|N	.|0.258391	T|T	0.26774|0.26774	0.0655|0.0655	N|N	0.20483|0.20483	0.58|0.58	0.41995|0.41995	D|D	0.990869|0.990869	.|B	.|0.24132	.|0.098	.|B	.|0.23716	.|0.048	T|T	0.11179|0.11179	-1.0598|-1.0598	5|10	.|0.42905	.|T	.|0.14	-4.0183|-4.0183	8.2926|8.2926	0.31967|0.31967	0.2251:0.0:0.7749:0.0|0.2251:0.0:0.7749:0.0	.|.	.|244	.|Q96FX7	.|TRM61_HUMAN	S|I	146|244	.|ENSP00000374399:S244I	.|ENSP00000299201:S244I	A|S	+|+	1|2	0|0	TRMT61A|TRMT61A	103070772|103070772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	2.535000|2.535000	0.45685|0.45685	2.140000|2.140000	0.66376|0.66376	0.313000|0.313000	0.20887|0.20887	GCC|AGC	.		0.697	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		T	104001019	G	T	104001019	3	4	26	1	0	0	0	0	1	0	0	0	16617	971	34	3	741	3	TRMT61A	14	104001019	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	12367383	104001019	3348521	119	4479											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105413351	105413351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacttgggcattttgaActtgctgtctttggctgtca	10	8	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr14:105413351A>G	ENST00000333244.5	-	7	8556	c.8437T>C	c.(8437-8439)Ttc>Ctc	p.F2813L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2813						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)			GGCATTTTGAACTTGCTGTCT	0.612																																					p.F2813L		.											.	AHNAK2-47	0			c.T8437C						.						248	267	261					14																	105413351		1967	4152	6119	SO:0001583	missense	113146	exon7			TTTTGAACTTGCT	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.8437T>C	14.37:g.105413351A>G	ENSP00000353114:p.Phe2813Leu	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	394	92	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	0.334	-0.954141	0.02285	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	3.24	0.469	0.16741	.	.	.	.	.	T	0.01092	0.0036	N	0.25094	0.71	0.24192	N	0.995548	B	0.30146	0.27	B	0.25291	0.059	T	0.45411	-0.9263	9	0.07030	T	0.85	.	4.3653	0.11222	0.7222:0.0:0.1047:0.1731	.	2813	Q8IVF2	AHNK2_HUMAN	L	2813	ENSP00000353114:F2813L	ENSP00000353114:F2813L	F	-	1	0	AHNAK2	104484396	0.000000	0.05858	0.999000	0.59377	0.097000	0.18754	-0.606000	0.05654	0.183000	0.20059	0.254000	0.18369	TTC	.		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105413351	A	G	105413351	3	3	26	1	0	0	0	0	1	0	0	0	415	43	2	4	8954	4	AHNAK2	14	105413351	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	1412332	105413351	1936189	120	4480											
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	29346191	29346191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagagcgaggacatggAgctgcccttggagggctatg	17	10	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:29346191A>G	ENST00000558402.1	+	5	703	c.104A>G	c.(103-105)gAg>gGg	p.E35G	APBA2_ENST00000558259.1_Missense_Mutation_p.E35G|APBA2_ENST00000558330.1_Missense_Mutation_p.E35G|APBA2_ENST00000561069.1_Missense_Mutation_p.E35G|APBA2_ENST00000411764.1_Missense_Mutation_p.E35G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	35					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGACATGGAGCTGCCCTTG	0.677																																					p.E35G		.											.	APBA2-90	0			c.A104G						.						46	52	50					15																	29346191		2203	4300	6503	SO:0001583	missense	321	exon3			ACATGGAGCTGCC	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.104A>G	15.37:g.29346191A>G	ENSP00000453293:p.Glu35Gly	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	299	61	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762649	0.31228	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.48522	0.81	5.06	3.95	0.45737	.	0.433894	0.23413	N	0.048452	T	0.45337	0.1337	M	0.62723	1.935	0.37647	D	0.922266	P;P;P	0.40909	0.732;0.682;0.682	B;B;B	0.40199	0.322;0.255;0.255	T	0.51601	-0.8685	10	0.56958	D	0.05	.	9.6476	0.39877	0.9179:0.0:0.0821:0.0	.	35;35;35	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	G	35	ENSP00000409312:E35G	ENSP00000219865:E35G	E	+	2	0	APBA2	27133483	1.000000	0.71417	0.888000	0.34837	0.015000	0.08874	3.654000	0.54453	0.771000	0.33359	0.528000	0.53228	GAG	.		0.677	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		G	29346191	A	G	29346191	3	3	26	1	0	0	0	0	1	0	0	0	757	304	11	4	106	4	APBA2	15	29346191	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10		29346191	73185201	121	4481											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	33358778	33358778	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacacagctcttagcgaCtccttctcatgtctcatctt	4	14	5	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:33358778C>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.E436D|FMN1_ENST00000558197.1_Missense_Mutation_p.E436D|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCTTAGCGACTCCTTCTCAT	0.483																																					p.E436D		.											.	FMN1-23	0			c.G1308C						.						53	54	53					15																	33358778		1966	4164	6130	SO:0001627	intron_variant	342184	exon1			TAGCGACTCCTTC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1503G>C	15.37:g.33358778C>G		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	117	32	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	14.99	2.701101	0.48307	.	.	ENSG00000248905	ENST00000334528	T	0.58358	0.34	5.96	3.06	0.35304	.	0.269242	0.41823	D	0.000805	T	0.55924	0.1951	.	.	.	.	.	.	D;P	0.59767	0.986;0.859	P;P	0.56474	0.799;0.569	T	0.63800	-0.6555	8	0.39692	T	0.17	.	5.3405	0.15981	0.1331:0.5968:0.0:0.2702	.	436;436	Q68DA7-3;Q68DA7-5	.;.	D	436	ENSP00000333950:E436D	ENSP00000333950:E436D	E	-	3	2	FMN1	31146070	0.989000	0.36119	1.000000	0.80357	0.984000	0.73092	0.241000	0.18065	0.846000	0.35142	0.655000	0.94253	GAG	.		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		G	33358778	C	G	33358778	1	3	26	0	1	0	0	0	0	0	0	0	5971	564	20	3		3	FMN1	15	33358778	Intron	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	4012587	33358778	69172614	122	4482											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369531	65369531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgttccacagtgccgcGctcttcatctgcgacggcga	12	14	3	0	rs2946642	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2	2	2		378	-0.2	1	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369531	G	T	65369531	2	4	26	1	0	0	0	0	0	0	0	1	8019	1074	38	2		2	KBTBD13	15	65369531	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	32010753	65369531	37161861	123	4483											
ACAN	176	hgsc.bcm.edu	37	chr15	89400097	89400097	+	Missense_Mutation	SNP	T	T	G													actactgcccctggagtagaTgagatcagtgggcttccttc					rs377697360		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:89400097T>G	ENST00000561243.1	+	11	4281	c.4281T>G	c.(4279-4281)gaT>gaG	p.D1427E	ACAN_ENST00000559004.1_Missense_Mutation_p.D1427E|ACAN_ENST00000352105.7_Missense_Mutation_p.D1427E|ACAN_ENST00000439576.2_Missense_Mutation_p.D1427E			P16112	PGCA_HUMAN	aggrecan	1428	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGAGTAGATGAGATCAGTG	0.512																																					p.D1427E		.											.	ACAN-25	0			c.T4281G						.																																			SO:0001583	missense	176	exon12			AGTAGATGAGATC	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.4281T>G	15.37:g.89400097T>G	ENSP00000453342:p.Asp1427Glu	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	38	3	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.561620	0.00903	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92348	-3.02;-3.02	3.16	-6.33	0.01988	.	0.924765	0.08745	N	0.899932	T	0.55097	0.1899	N	0.00066	-2.3	0.09310	N	1	B;B	0.15719	0.014;0.007	B;B	0.14023	0.01;0.005	T	0.62539	-0.6833	10	0.02654	T	1	.	1.3242	0.02122	0.3237:0.1069:0.3528:0.2166	.	1427;1427	E7ENV9;E7EX88	.;.	E	1427;1427;1313	ENSP00000387356:D1427E;ENSP00000341615:D1427E	ENSP00000268134:D1313E	D	+	3	2	ACAN	87201101	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-12.125000	0.00002	-2.194000	0.00753	-3.029000	0.00073	GAT	.		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		G	89400097	T	G	89400097	3	3	26	1	0	0	0	0	1	0	0	0	117	1461	51	5	4323	5	ACAN	15	89400097	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	24030566	89400097	13131295	124	4484	32	2									
ACAN	176	hgsc.bcm.edu	37	chr15	89400100	89400100	+	Missense_Mutation	SNP	G	G	C													actgcccctggagtagatgaGatcagtgggcttccttctgg					rs537253113	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:89400100G>C	ENST00000561243.1	+	11	4284	c.4284G>C	c.(4282-4284)gaG>gaC	p.E1428D	ACAN_ENST00000559004.1_Missense_Mutation_p.E1428D|ACAN_ENST00000352105.7_Missense_Mutation_p.E1428D|ACAN_ENST00000439576.2_Missense_Mutation_p.E1428D			P16112	PGCA_HUMAN	aggrecan	1429	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGTAGATGAGATCAGTGGGC	0.517													-|||	2	0.000399361	0	0	5008	,	,		16994	0		0.002	False		,,,				2504	0				p.E1428D		.											.	ACAN-25	0			c.G4284C						.						147	148	148					15																	89400100		1849	4086	5935	SO:0001583	missense	176	exon12			AGATGAGATCAGT	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.4284G>C	15.37:g.89400100G>C	ENSP00000453342:p.Glu1428Asp	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	38	3	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	0.500	-0.871439	0.02570	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.91945	-2.94;-2.94	3.0	-6.0	0.02206	.	0.488201	0.15307	N	0.269317	T	0.59824	0.2222	N	0.00162	-1.95	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.15870	0.014;0.008	T	0.66232	-0.5975	10	0.02654	T	1	.	7.6123	0.28137	0.1173:0.2143:0.5836:0.0848	.	1428;1428	E7ENV9;E7EX88	.;.	D	1428;1428;1314	ENSP00000387356:E1428D;ENSP00000341615:E1428D	ENSP00000268134:E1314D	E	+	3	2	ACAN	87201104	0.011000	0.17503	0.000000	0.03702	0.006000	0.05464	-1.495000	0.02294	-2.159000	0.00787	-0.689000	0.03729	GAG	.		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		C	89400100	G	C	89400100	3	2	26	1	0	0	0	0	1	0	0	0	117	933	33	3	4326	3	ACAN	15	89400100	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	3	89400100	13131292	125	4485	32	2									
ARRDC4	91947	hgsc.bcm.edu	37	chr15	98504326	98504326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgcgcctcggccagcAccgcggccctggctgtcttc	12	21	1	0	rs12101554	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr15:98504326A>G	ENST00000268042.6	+	1	399	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	79			T -> A (in dbSNP:rs12101554). {ECO:0000269|PubMed:15489334}.		positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CTCGGCCAGCACCGCGGCCCT	0.786													g|||	3817	0.762181	0.5976	0.7118	5008	,	,		7745	0.88		0.7485	False		,,,				2504	0.9131				p.T79A		.											.	ARRDC4-90	0			c.A235G						.		ALA/THR	934,448		327,280,84	1	1	1		235	0.8	0	15	dbSNP_120	1	2287,687		920,447,120	no	missense	ARRDC4	NM_183376.2	58	1247,727,204	GG,GA,AA		23.1002,32.4168,26.056	benign	79/419	98504326	3221,1135	691	1487	2178	SO:0001583	missense	91947	exon1			GCCAGCACCGCGG	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.235A>G	15.37:g.98504326A>G	ENSP00000268042:p.Thr79Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_183376	0	0	0	0	0	Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	CCDS10377.1	1613	0.7385531135531136	289	0.5873983739837398	255	0.7044198895027625	512	0.8951048951048951	557	0.7348284960422163	g	3.442	-0.113882	0.06881	0.675832	0.768998	ENSG00000140450	ENST00000268042	T	0.07567	3.18	4.08	0.777	0.18538	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.46222	P	0.0010670000000000401	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	8	0.02654	T	1	-4.3851	2.5111	0.04657	0.2812:0.0:0.3307:0.3881	rs12101554;rs17845860;rs17858835;rs57152335	79	Q8NCT1	ARRD4_HUMAN	A	79	ENSP00000268042:T79A	ENSP00000268042:T79A	T	+	1	0	ARRDC4	96305330	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	-0.193000	0.09573	0.288000	0.22398	-0.370000	0.07254	ACC	A|0.263;G|0.737		0.786	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		G	98504326	A	G	98504326	3	3	26	1	0	0	0	0	1	0	0	0	986	159	6	4	237	4	ARRDC4	15	98504326	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	9104226	98504326	4027066	126	4486											
TPSD1	23430	hgsc.bcm.edu	37	chr16	1306346	1306347	+	Missense_Mutation	DNP	CG	CG	GC													gctgcccgtcctggcgagccCggcctacgtggcccctggtg					rs2005937|rs3865205	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:1306346_1306347CG>GC	ENST00000211076.3	+	1	213_214	c.65_66CG>GC	c.(64-66)cCG>cGC	p.P22R	TPSD1_ENST00000397534.2_Missense_Mutation_p.P15R|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	22			P -> R (in dbSNP:rs3865205). {ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTGGCGAGCCCGGCCTACGTGG	0.723																																					p.P22R		.											.	TPSD1-90	0			c.G66C						.																																			SO:0001583	missense	23430	exon1			GAGCCCGGCCTAC	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	Exception_encountered	16.37:g.1306346_1306347delinsGC	ENSP00000211076:p.Pro22Arg	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	123	0	NM_012217	0	0	0	0	0	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	DNP	ENST00000211076.3	37	CCDS10432.1																																																																																			.		0.723	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			GC	1306347	CG	GC	1306346	3	3	26	1	0	0	0	0	1	0	0	0	16473	652	23	2	67	2	TPSD1	16	1306346	Missense_Mutation	DNP	CG	TCGA-OR-A5K2-01A-11D-A29I-10		1306346	89048407	127	4487											
PKD1	5310	broad.mit.edu	37	chr16	2140477	2140477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagccccacacacagcaGgggtgacaggtgccaggact	13	14	0	2	rs199674888		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:2140477G>A	ENST00000262304.4	-	45	12461	c.12253C>T	c.(12253-12255)Ctg>Ttg	p.L4085L	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.L4084L|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4085					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)	p.L4085M(1)		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						ACACACAGCAGGGGTGACAGG	0.672													g|||	1	0.000199681	0	0	5008	,	,		16802	0		0.001	False		,,,				2504	0				p.L4085L		.											.	PKD1-91	1	Substitution - Missense(1)	kidney(1)	c.C12253T						.		,	0,4366		0,0,2183	22	27	25		12250,12253	-0.8	0.1	16		25	1,8577		0,1,4288	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6471	AA,AG,GG		0.0117,0.0,0.0077	,	4084/4303,4085/4304	2140477	1,12943	2183	4289	6472	SO:0001819	synonymous_variant	5310	exon45			ACAGCAGGGGTGA	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.12253C>T	16.37:g.2140477G>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	109	4	NM_001009944	0	0	18	18	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.999;A|0.000		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2140477	G	A	2140477	2	1	26	1	0	0	0	0	0	0	0	1	12002	991	35	3		3	PKD1	16	2140477	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	834131	2140477	88214276	128	4488											
PKD1	5310	hgsc.bcm.edu	37	chr16	2167874	2167874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggttctggatgctgaggtcGaggctctcgtcactctgcac	13	12	4	1	rs199685642	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:2167874G>A	ENST00000262304.4	-	5	1327	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	PKD1_ENST00000423118.1_Silent_p.L373L|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	373					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						TGCTGAGGTCGAGGCTCTCGT	0.701													g|||	4729	0.944289	0.9924	0.915	5008	,	,		16871	0.999		0.832	False		,,,				2504	0.9591				p.L373L		.											.	PKD1-91	0			c.C1119T						.						1	1	1					16																	2167874		218	660	878	SO:0001819	synonymous_variant	5310	exon5			GAGGTCGAGGCTC	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.1119C>T	16.37:g.2167874G>A		Somatic	7	2		WXS	Illumina GAIIx	Phase_I	14	6	NM_000296	0	0	4	4	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			A|1.000;|0.000		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2167874	G	A	2167874	2	1	26	1	0	0	0	0	0	0	0	1	12002	1045	37	1		1	PKD1	16	2167874	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	27397	2167874	88186879	129	4489											
C16orf79	283870	bcgsc.ca	37	chr16	2260567	2260567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccctccagccacaaCccccacagcggccagcacca	7	20	0	1	rs26857	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:2260567C>T	ENST00000562360.1	-	2	135	c.136G>A	c.(136-138)Gtt>Att	p.V46I	BRICD5_ENST00000328540.3_Missense_Mutation_p.V46I|BRICD5_ENST00000566018.1_Missense_Mutation_p.V46I|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	46			V -> I (in dbSNP:rs26857). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)		p.V46I(1)									CCAGCCACAACCCCCACAGCG	0.662													C|||	2582	0.515575	0.497	0.4841	5008	,	,		16452	0.6032		0.4702	False		,,,				2504	0.5194				p.V46I		.											.	.	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G136A						.	C	ILE/VAL	2185,2205		554,1077,564	22	27	25		136	1.2	0	16	dbSNP_76	25	4030,4558		965,2100,1229	yes	missense	C16orf79	NM_182563.3	29	1519,3177,1793	TT,TC,CC		46.9259,49.7722,47.8887	benign	46/229	2260567	6215,6763	2195	4294	6489	SO:0001583	missense	283870	exon2			CCACAACCCCCAC	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.136G>A	16.37:g.2260567C>T	ENSP00000455052:p.Val46Ile	Somatic	177	1		WXS	Illumina GAIIx	Phase_I	225	7	NM_182563	0	0	2	2	0	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	1127	0.5160256410256411	252	0.5121951219512195	168	0.46408839779005523	349	0.6101398601398601	358	0.47229551451187335	C	0.024	-1.388868	0.01185	0.497722	0.469259	ENSG00000182685	ENST00000328540	T	0.24151	1.87	5.48	1.17	0.20885	.	0.645519	0.15632	N	0.252357	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.11235	0.004;0.003	B;B	0.13407	0.002;0.009	T	0.43845	-0.9366	9	0.05525	T	0.97	-1.5005	4.4636	0.11678	0.0:0.5028:0.1556:0.3417	rs26857;rs1640774;rs4018449;rs12931243;rs17853879;rs59033835;rs26857	46;46	Q6PL45;Q6PL45-2	CP079_HUMAN;.	I	46	ENSP00000332389:V46I	ENSP00000332389:V46I	V	-	1	0	C16orf79	2200568	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.241000	0.18065	0.298000	0.22638	-0.137000	0.14449	GTT	C|0.523;T|0.477		0.662	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		T	2260567	C	T	2260567	3	4	26	1	0	0	0	0	1	0	0	0	1841	507	18	3	570	3	C16orf79	16	2260567	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	92693	2260567	88094186	130	4490											
C16orf79	283870	bcgsc.ca	37	chr16	2260612	2260612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaggagcaggcTcacggctctccagcccccgc	12	18	2	0	rs26856	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:2260612T>C	ENST00000562360.1	-	2	90	c.91A>G	c.(91-93)Agc>Ggc	p.S31G	BRICD5_ENST00000328540.3_Missense_Mutation_p.S31G|BRICD5_ENST00000566018.1_Missense_Mutation_p.S31G|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	31			S -> G (in dbSNP:rs26856). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)											aggagcagGCTCACGGCTCTC	0.657													C|||	3169	0.632788	0.6157	0.6671	5008	,	,		16560	0.6042		0.6998	False		,,,				2504	0.592				p.S31G		.											.	.	0			c.A91G						.	C	GLY/SER	2816,1566		911,994,286	18	22	21		91	2.6	0	16	dbSNP_76	21	6103,2489		2200,1703,393	yes	missense	C16orf79	NM_182563.3	56	3111,2697,679	CC,CT,TT		28.9688,35.7371,31.2548	benign	31/229	2260612	8919,4055	2191	4296	6487	SO:0001583	missense	283870	exon2			GCAGGCTCACGGC	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.91A>G	16.37:g.2260612T>C	ENSP00000455052:p.Ser31Gly	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	103	5	NM_182563	0	0	13	13	0	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	1465	0.6707875457875457	316	0.6422764227642277	241	0.6657458563535912	364	0.6363636363636364	544	0.7176781002638523	C	0.011	-1.709638	0.00712	0.642629	0.710312	ENSG00000182685	ENST00000328540	T	0.22134	1.97	5.69	2.61	0.31194	.	0.248793	0.33253	N	0.005113	T	0.00012	0.0000	N	0.01729	-0.75	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40001	-0.9586	9	0.02654	T	1	-23.0366	4.9257	0.13892	0.1462:0.6122:0.0:0.2416	rs26856;rs567764;rs12917649;rs17857175;rs59500558	31;31	Q6PL45;Q6PL45-2	CP079_HUMAN;.	G	31	ENSP00000332389:S31G	ENSP00000332389:S31G	S	-	1	0	C16orf79	2200613	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.270000	0.18607	0.338000	0.23692	-0.119000	0.15052	AGC	T|0.324;C|0.676		0.657	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		C	2260612	T	C	2260612	3	2	26	1	0	0	0	0	1	0	0	0	1841	1551	54	4	615	4	C16orf79	16	2260612	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	45	2260612	88094141	131	4491											
C16orf90	646174	broad.mit.edu	37	chr16	3544636	3544636	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcccaggctgtgccctcAggctgtggcaggcagccccc	15	16	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:3544636A>C	ENST00000437192.3	-	2	290	c.288T>G	c.(286-288)ccT>ccG	p.P96P	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	86										large_intestine(1)	1						CTGTGCCCTCAGGCTGTGGCA	0.692																																					p.P96P		.											.	.	0			c.T288G						.						13	14	14					16																	3544636		1848	4027	5875	SO:0001819	synonymous_variant	646174	exon2			GCCCTCAGGCTGT		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.288T>G	16.37:g.3544636A>C		Somatic	51	1		WXS	Illumina GAIIx	Phase_I	78	3	NM_001080524	0	0	0	0	0		Silent	SNP	ENST00000437192.3	37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	A	0.915	-0.717789	0.03182	.	.	ENSG00000215131	ENST00000399645	.	.	.	5.7	-5.37	0.02681	.	.	.	.	.	.	.	.	.	.	.	0.24823	N	0.992571	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5994	8.4536	0.32886	0.556:0.1056:0.3385:0.0	.	.	.	.	G	105	.	.	X	-	1	0	C16orf90	3484637	0.000000	0.05858	0.049000	0.19019	0.907000	0.53573	-0.627000	0.05521	-1.070000	0.03149	-0.376000	0.06991	TGA	.		0.692	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		C	3544636	A	C	3544636	2	2	26	1	0	0	0	0	0	0	0	1	1848	175	7	5		5	C16orf90	16	3544636	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	1284024	3544636	86810117	132	4492											
TRAP1	10131	broad.mit.edu	37	chr16	3722703	3722703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactctgagcagcgtacctCggatgaagcgcagccacttg	13	12	1	2	rs148180859	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:3722703C>T	ENST00000246957.5	-	10	1251	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	TRAP1_ENST00000575671.1_Missense_Mutation_p.R179Q|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000538171.1_Missense_Mutation_p.R335Q	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	388					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)				CAGCGTACCTCGGATGAAGCG	0.637																																					p.R388Q		.											.	TRAP1-226	0			c.G1163A						.	C	GLN/ARG	0,4390	2.1+/-5.4	0,0,2195	113	78	90		1163	5.3	1	16	dbSNP_134	90	6,8594	4.3+/-15.6	0,6,4294	yes	missense	TRAP1	NM_016292.2	43	0,6,6489	TT,TC,CC		0.0698,0.0,0.0462	probably-damaging	388/705	3722703	6,12984	2195	4300	6495	SO:0001583	missense	10131	exon10			GTACCTCGGATGA	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.1163G>A	16.37:g.3722703C>T	ENSP00000246957:p.Arg388Gln	Somatic	82	1		WXS	Illumina GAIIx	Phase_I	142	5	NM_016292	0	0	0	0	0	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574950	0.86542	0.0	6.98E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	M	0.76727	2.345	0.80722	D	1	P;P	0.42941	0.756;0.794	B;P	0.46659	0.388;0.523	T	0.00581	-1.1660	10	0.52906	T	0.07	-19.8289	18.3915	0.90485	0.0:1.0:0.0:0.0	.	335;388	F5H897;Q12931	.;TRAP1_HUMAN	Q	388;335	ENSP00000246957:R388Q;ENSP00000442070:R335Q	ENSP00000246957:R388Q	R	-	2	0	TRAP1	3662704	1.000000	0.71417	0.975000	0.42487	0.215000	0.24574	5.675000	0.68123	2.665000	0.90641	0.491000	0.48974	CGA	C|1.000;T|0.000		0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		T	3722703	C	T	3722703	3	4	26	1	0	0	0	0	1	0	0	0	16503	884	31	1	987	1	TRAP1	16	3722703	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	178067	3722703	86632050	133	4493											
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	21060895	21060895	+	Frame_Shift_Del	DEL	T	T	-													tagaggcagagttacctcgaTcctgttgaactcatcaaagc							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:21060895delT	ENST00000261383.3	-	31	4455	c.4456delA	c.(4456-4458)atcfs	p.I1486fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.I1486fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1486	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTACCTCGATCCTGTTGAAC	0.502																																					p.I1486fs		.											.	DNAH3-167	0			c.4456delA						.						86	76	79					16																	21060895		2201	4300	6501	SO:0001589	frameshift_variant	55567	exon31			CCTCGATCCTGTT	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.4456delA	16.37:g.21060895delT	ENSP00000261383:p.Ile1486fs	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	96	15	NM_017539	0	0	0	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	CCDS10594.1																																																																																			.		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		-	21060895	T	-	21060895	7	5	26	1	0	1	0	1	0	0	0	0	4617	1435	50	0	8021	0	DNAH3	16	21060895	Frame_Shift_Del	DEL	T	TCGA-OR-A5K2-01A-11D-A29I-10	17338192	21060895	69293858	134	4494											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	26	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	8847538	29908433	60446320	135	4495											
PKD1L2	114780	bcgsc.ca	37	chr16	81199553	81199553	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgactcgaagcagccGcagcactgtggcaatctgaa	10	13	1	2	rs386792883		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr16:81199553G>T	ENST00000525539.1	-	0	3108				PKD1L2_ENST00000533478.1_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						CGAAGCAGCCGCAGCACTGTG	0.567																																					.		.											.	PKD1L2-92	0			.						.						21	22	22					16																	81199553		2056	4205	6261			114780	.			GCAGCCGCAGCAC	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.81199553G>T		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	50	4	.	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																				.		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81199553	G	T	81199553	1	4	26	0	1	0	0	0	0	0	0	0	12004	1086	38	2		2	PKD1L2	16	81199553	RNA	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	51291120	81199553	9155200	136	4496											
MINK1	50488	hgsc.bcm.edu	37	chr17	4793052	4793052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggcggcaggcggagcgCgagcaggtagagcgccgcac	20	12	0	1	rs2277681	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:4793052C>T	ENST00000355280.6	+	13	1537	c.1341C>T	c.(1339-1341)cgC>cgT	p.R447R	MINK1_ENST00000347992.7_Silent_p.R447R|MINK1_ENST00000453408.3_Silent_p.R447R	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						agGCGGAGCGCGAGCAGGTAG	0.746													C|||	255	0.0509185	0.0257	0.0576	5008	,	,		6705	0.0595		0.0954	False		,,,				2504	0.0256				p.R447R		.											.	MINK1-943	0			c.C1341T						.	C	,,,	86,3598		2,82,1758	4	9	7		1341,1341,1341,1341	-6.7	0.9	17	dbSNP_100	7	519,7015		19,481,3267	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MINK1	NM_001024937.3,NM_015716.4,NM_153827.4,NM_170663.4	,,,	21,563,5025	TT,TC,CC		6.8888,2.3344,5.3931	,,,	447/1313,447/1296,447/1333,447/1304	4793052	605,10613	1842	3767	5609	SO:0001819	synonymous_variant	50488	exon13			GGAGCGCGAGCAG	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1341C>T	17.37:g.4793052C>T		Somatic	1	1		WXS	Illumina GAIIx	Phase_I	34	31	NM_170663	0	0	0	1	1		Silent	SNP	ENST00000355280.6	37	CCDS45588.1																																																																																			C|0.925;T|0.075		0.746	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		T	4793052	C	T	4793052	2	4	26	1	0	0	0	0	0	0	0	1	9625	755	27	1		1	MINK1	17	4793052	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		4793052	76402158	137	4497											
C17orf59	54785	ucsc.edu	37	chr17	8092694	8092694	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcacctcggggtcgatTgggggaatggccggtgtggg	20	9	0	0	rs8531	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:8092694T>G	ENST00000389017.4	-	1	870	c.765A>C	c.(763-765)ccA>ccC	p.P255P	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	255	Pro-rich.									large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGGGTCGATTGGGGGAATGG	0.716													G|||	3008	0.600639	0.6029	0.4971	5008	,	,		14381	0.2887		0.827	False		,,,				2504	0.7597				p.P255P		.											.	C17orf59-90	0			c.A765C						.	G		2924,1468		981,962,253	12	13	13		765	2.3	1	17	dbSNP_52	13	7050,1534		2940,1170,182	no	coding-synonymous	C17orf59	NM_017622.2		3921,2132,435	GG,GT,TT		17.8705,33.4244,23.135		255/358	8092694	9974,3002	2196	4292	6488	SO:0001819	synonymous_variant	54785	exon1			GTCGATTGGGGGA	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.765A>C	17.37:g.8092694T>G		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	46	18	NM_017622	0	0	6	8	2	Q53HS4|Q9NXW8	Silent	SNP	ENST00000389017.4	37	CCDS11133.2																																																																																			T|0.356;G|0.644		0.716	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		G	8092694	T	G	8092694	2	3	26	1	0	0	0	0	0	0	0	1	1873	1799	63	5		5	C17orf59	17	8092694	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	3299642	8092694	73102516	138	4498											
SUPT6H	6830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	27022538	27022538	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagaccacaagcaggaggagGacatgaagcggaagcagcag	15	9	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:27022538G>C	ENST00000314616.6	+	29	4226	c.3943G>C	c.(3943-3945)Gac>Cac	p.D1315H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1315H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1315					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)					GCAGGAGGAGGACATGAAGCG	0.562																																					p.D1315H		.											.	SUPT6H-93	0			c.G3943C						.						93	78	83					17																	27022538		2203	4300	6503	SO:0001583	missense	6830	exon29			GAGGAGGACATGA	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.3943G>C	17.37:g.27022538G>C	ENSP00000319104:p.Asp1315His	Somatic	237	0		WXS	Illumina GAIIx	Phase_I	194	73	NM_003170	0	0	10	20	10	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939123	0.92526	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.79	5.79	0.91817	.	0.044016	0.85682	D	0.000000	T	0.62877	0.2464	L	0.49778	1.585	0.80722	D	1	P	0.47910	0.902	P	0.47430	0.547	T	0.63305	-0.6667	9	0.52906	T	0.07	-25.1453	20.0345	0.97552	0.0:0.0:1.0:0.0	.	1315	Q7KZ85	SPT6H_HUMAN	H	1315	.	ENSP00000319104:D1315H	D	+	1	0	SUPT6H	24046665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.355000	0.97087	2.733000	0.93635	0.650000	0.86243	GAC	.		0.562	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27022538	G	C	27022538	3	2	26	1	0	0	0	0	1	0	0	0	15447	1174	41	3	4053	3	SUPT6H	17	27022538	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	18929844	27022538	54172672	139	4499											
MYO19	80179	ucsc.edu;bcgsc.ca	37	chr17	34854393	34854393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctttagcagcaaggcagGccattctgatcttaaaaagc	9	10	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:34854393G>T	ENST00000431794.3	-	25	2996	c.2474C>A	c.(2473-2475)gCc>gAc	p.A825D	ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Missense_Mutation_p.A625D	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	825						cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCAAGGCAGGCCATTCTGAT	0.438																																					p.A825D		.											.	MYO19-23	0			c.C2474A						.						41	40	40					17																	34854393		1934	4131	6065	SO:0001583	missense	80179	exon26			AGGCAGGCCATTC	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2474C>A	17.37:g.34854393G>T	ENSP00000409936:p.Ala825Asp	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	35	4	NM_001163735	0	0	1	1	0	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749221	0.15710	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.72942	-0.7;-0.7	5.8	4.78	0.61160	.	0.172442	0.27604	N	0.018626	T	0.58977	0.2160	N	0.25890	0.77	0.80722	D	1	B;B	0.15930	0.002;0.015	B;B	0.16722	0.003;0.016	T	0.59037	-0.7529	10	0.87932	D	0	.	13.0726	0.59070	0.0:0.0:0.8068:0.1932	.	825;625	Q96H55;Q96H55-4	MYO19_HUMAN;.	D	825;625	ENSP00000409936:A825D;ENSP00000268852:A625D	ENSP00000268852:A625D	A	-	2	0	MYO19	31928506	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	2.144000	0.42197	2.764000	0.94973	0.485000	0.47835	GCC	.		0.438	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		T	34854393	G	T	34854393	3	4	26	1	0	0	0	0	1	0	0	0	10105	1203	42	3	446	3	MYO19	17	34854393	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	7831855	34854393	46340817	140	4500											
KRT17	3872	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	39780504	39780504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgaggttctgcatggtGgccttctcacctccagccag	10	13	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:39780504G>T	ENST00000311208.8	-	1	325	c.258C>A	c.(256-258)gcC>gcA	p.A86A	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	86	Coil 1A.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCTGCATGGTGGCCTTCTCAC	0.607																																					p.A86A	Pancreas(92;1242 2086 39193 50508)	.											.	KRT17-92	0			c.C258A						.						80	83	82					17																	39780504		2203	4300	6503	SO:0001819	synonymous_variant	3872	exon1			CATGGTGGCCTTC	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.258C>A	17.37:g.39780504G>T		Somatic	385	1		WXS	Illumina GAIIx	Phase_I	371	19	NM_000422	0	0	0	0	0	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																			.		0.607	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		T	39780504	G	T	39780504	2	4	26	1	0	0	0	0	0	0	0	1	8481	1335	47	3		3	KRT17	17	39780504	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	4926111	39780504	41414706	141	4501											
JUP	3728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	39913762	39913762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgtcctcggagatgcGgaacaggacggcagcagcgt	15	10	1	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:39913762G>A	ENST00000393931.3	-	12	2069	c.1951C>T	c.(1951-1953)Cgc>Tgc	p.R651C	JUP_ENST00000393930.1_Missense_Mutation_p.R651C|JUP_ENST00000310706.5_Missense_Mutation_p.R651C|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	651	Interaction with DSC1.				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)		TCGGAGATGCGGAACAGGACG	0.622																																					p.R651C	Colon(16;42 520 6044 17852 28530)	.											.	JUP-479	0			c.C1951T						.						91	90	90					17																	39913762		2203	4300	6503	SO:0001583	missense	3728	exon12			AGATGCGGAACAG	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.1951C>T	17.37:g.39913762G>A	ENSP00000377508:p.Arg651Cys	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	346	30	NM_021991	0	0	8	8	0	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783159	0.90282	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.66099	-0.19;-0.19;-0.19	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77768	-0.2464	10	0.62326	D	0.03	-30.0662	17.0053	0.86391	0.0:0.0:1.0:0.0	.	651	P14923	PLAK_HUMAN	C	651	ENSP00000377507:R651C;ENSP00000311113:R651C;ENSP00000377508:R651C	ENSP00000311113:R651C	R	-	1	0	JUP	37167288	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.224000	0.65288	2.595000	0.87683	0.561000	0.74099	CGC	.		0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			A	39913762	G	A	39913762	3	1	26	1	0	0	0	0	1	0	0	0	7999	1116	39	1	298	1	JUP	17	39913762	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	133258	39913762	41281448	142	4502											
ASB16	92591	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	42255661	42255661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgactagctgtgcgcgctcGgttgggaagccgctgccggc	16	14	0	0	rs199556388	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:42255661G>C	ENST00000293414.1	+	5	1349	c.1265G>C	c.(1264-1266)cGg>cCg	p.R422P	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	422	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)		GTGCGCGCTCGGTTGGGAAGC	0.677																																					p.R422P		.											.	ASB16-227	0			c.G1265C						.						28	27	28					17																	42255661		2203	4300	6503	SO:0001583	missense	92591	exon5			GCGCTCGGTTGGG	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.1265G>C	17.37:g.42255661G>C	ENSP00000293414:p.Arg422Pro	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	79	25	NM_080863	0	0	0	0	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	g	9.295	1.051554	0.19827	.	.	ENSG00000161664	ENST00000293414	T	0.44482	0.92	5.36	0.526	0.17078	SOCS protein, C-terminal (3);	0.791393	0.11871	N	0.521482	T	0.31451	0.0797	L	0.27053	0.805	0.09310	N	1	P	0.35821	0.523	B	0.43052	0.406	T	0.25710	-1.0124	10	0.33940	T	0.23	-18.6349	5.3866	0.16222	0.649:0.0:0.2269:0.1241	.	422	Q96NS5	ASB16_HUMAN	P	422	ENSP00000293414:R422P	ENSP00000293414:R422P	R	+	2	0	ASB16	39611187	0.000000	0.05858	0.815000	0.32552	0.367000	0.29736	0.840000	0.27600	0.165000	0.19558	-1.163000	0.01768	CGG	G|0.999;A|0.001		0.677	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			C	42255661	G	C	42255661	3	2	26	1	0	0	0	0	1	0	0	0	1021	1116	39	2	1283	2	ASB16	17	42255661	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	2341899	42255661	38939549	143	4503											
FOXJ1	2302	hgsc.bcm.edu	37	chr17	74133974	74133974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcctcggtattcacCgtcagcggcccggcccgggg	16	15	2	0	rs894542	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091				p.T242T		.											.	FOXJ1-227	0			c.G726A						.	C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302	exon3			ATTCACCGTCAGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_001454	0	0	0	0	0	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																			C|0.925;T|0.075		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	26	1	0	0	0	0	0	0	0	1	6035	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	31878313	74133974	7061236	144	4504											
ACTG1	71	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79478286	79478286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatggtgatgacctggccatCgggcagctcgtagctcttct	12	11	2	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr17:79478286C>G	ENST00000575842.1	-	3	1156	c.730G>C	c.(730-732)Gat>Cat	p.D244H	ACTG1_ENST00000331925.2_Missense_Mutation_p.D244H|ACTG1_ENST00000575087.1_Missense_Mutation_p.D244H|ACTG1_ENST00000573283.1_Missense_Mutation_p.D244H|AC139149.1_ENST00000584254.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	244					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)			ACCTGGCCATCGGGCAGCTCG	0.587																																					p.D244H		.											.	ACTG1-91	0			c.G730C						.						62	65	64					17																	79478286		2203	4300	6503	SO:0001583	missense	71	exon4			GGCCATCGGGCAG		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.730G>C	17.37:g.79478286C>G	ENSP00000458162:p.Asp244His	Somatic	289	0		WXS	Illumina GAIIx	Phase_I	366	85	NM_001614	0	0	659	877	218	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	14.04	2.417663	0.42918	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97941	-4.62	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.98802	4.335	0.58432	D	0.999999	B	0.33748	0.423	B	0.42798	0.398	D	0.99937	1.1374	10	0.87932	D	0	.	16.2178	0.82239	0.0:1.0:0.0:0.0	.	244	P63261	ACTG_HUMAN	H	244;202	ENSP00000331514:D244H	ENSP00000331514:D244H	D	-	1	0	ACTG1	77092881	1.000000	0.71417	0.116000	0.21606	0.418000	0.31294	7.396000	0.79891	2.116000	0.64780	0.553000	0.69018	GAT	.		0.587	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		G	79478286	C	G	79478286	3	3	26	1	0	0	0	0	1	0	0	0	196	884	31	2	409	2	ACTG1	17	79478286	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	5344312	79478286	1716924	145	4505											
GRP	2922	hgsc.bcm.edu	37	chr18	56887537	56887537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtcctgctggcgctgGtcctctgcctggcgccccgg	15	17	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr18:56887537G>T	ENST00000256857.2	+	1	138	c.40G>T	c.(40-42)Gtc>Ttc	p.V14F	GRP_ENST00000420468.2_Missense_Mutation_p.V14F|GRP_ENST00000529320.2_Missense_Mutation_p.V14F	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	14					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCTGGCGCTGGTCCTCTGCCT	0.736																																					p.V14F		.											.	GRP-90	0			c.G40T						.						3	5	4					18																	56887537		1945	3735	5680	SO:0001583	missense	2922	exon1			GCGCTGGTCCTCT		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.40G>T	18.37:g.56887537G>T	ENSP00000256857:p.Val14Phe	Somatic	2	1		WXS	Illumina GAIIx	Phase_I	8	6	NM_001012512	0	0	0	0	0	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	ENST00000256857.2	37	CCDS11971.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701190	0.68501	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.50813	0.73;0.78;0.75	4.02	3.12	0.35913	.	0.102221	0.37437	N	0.002085	T	0.53753	0.1816	L	0.34521	1.04	0.27246	N	0.959012	D;D;P	0.76494	0.999;0.998;0.944	D;D;P	0.83275	0.996;0.99;0.563	T	0.44605	-0.9317	10	0.39692	T	0.17	-6.9775	10.8346	0.46679	0.0:0.1928:0.8072:0.0	.	14;14;14	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	F	14	ENSP00000256857:V14F;ENSP00000434101:V14F;ENSP00000389696:V14F	ENSP00000256857:V14F	V	+	1	0	GRP	55038517	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.443000	0.35057	0.863000	0.35553	0.549000	0.68633	GTC	.		0.736	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256131.2	NM_002091		T	56887537	G	T	56887537	3	4	26	1	0	0	0	0	1	0	0	0	6832	1261	44	3	42	3	GRP	18	56887537	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		56887537	21189711	146	4506											
RAX	30062	hgsc.bcm.edu	37	chr18	56936395	56936395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcgcgagaggTtgcaggccggggcccaacgg	22	12	0	1	rs7226481	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr18:56936395T>C	ENST00000334889.3	-	3	1068	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	294					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCGCGAGAGGTTGCAGGCCGG	0.771													C|||	1143	0.228235	0.2421	0.1671	5008	,	,		8659	0.129		0.3032	False		,,,				2504	0.2781				p.Q294Q	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.A882G						.	C		688,3078		75,538,1270	4	6	5		882	2.2	0.3	18	dbSNP_116	5	1688,5834		233,1222,2306	no	coding-synonymous	RAX	NM_013435.2		308,1760,3576	CC,CT,TT		22.4408,18.2687,21.0489		294/347	56936395	2376,8912	1883	3761	5644	SO:0001819	synonymous_variant	30062	exon3			GAGAGGTTGCAGG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.882A>G	18.37:g.56936395T>C		Somatic	1	1		WXS	Illumina GAIIx	Phase_I	3	3	NM_013435	0	0	0	0	0	Q86V11	Silent	SNP	ENST00000334889.3	37	CCDS11972.1																																																																																			T|0.767;C|0.233		0.771	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			C	56936395	T	C	56936395	2	2	26	1	0	0	0	0	0	0	0	1	13141	1722	60	4		4	RAX	18	56936395	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	48858	56936395	21140853	147	4507											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	26	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	13272926	70209321	7867927	148	4508											
C19orf20	91978	hgsc.bcm.edu	37	chr19	519018	519018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccgggacggccaagcCcccgaggaggtggtggcgcc	17	14	1	0	rs145134429	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:519018C>T	ENST00000359315.5	+	2	676	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	156					adult behavior (GO:0030534)|multicellular organismal development (GO:0007275)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|synaptic transmission (GO:0007268)|vesicle localization (GO:0051648)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)	tubulin-glutamic acid ligase activity (GO:0070740)										ACGGCCAAGCCCCCGAGGAGG	0.731													c|||	38	0.00758786	0.0053	0.0072	5008	,	,		6691	0		0.0129	False		,,,				2504	0.0133				p.A156A		.											.	.	0			c.C468T						.			12,3956		0,12,1972	5	8	7		468	-1.4	1	19	dbSNP_134	7	83,7985		0,83,3951	no	coding-synonymous	C19orf20	NM_033513.2		0,95,5923	TT,TC,CC		1.0288,0.3024,0.7893		156/291	519018	95,11941	1984	4034	6018	SO:0001819	synonymous_variant	91978	exon2			CCAAGCCCCCGAG	BC009520	CCDS42454.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000141933	ENSG00000141933			25058	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 20"	C19orf20		11441184, 12972506	Standard	NM_033513		Approved	GTRGEO22, PGs1	uc002lou.3	Q6ZTW0		ENST00000359315.5:c.468C>T	19.37:g.519018C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_033513	0	0	4	21	17	Q96GE2	Silent	SNP	ENST00000359315.5	37	CCDS42454.1																																																																																			C|0.994;T|0.006		0.731	TPGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451887.2	NM_033513		T	519018	C	T	519018	2	4	26	1	0	0	0	0	0	0	0	1	1919	610	22	3		3	C19orf20	19	519018	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10		519018	58609965	149	4509											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	1049413	1049413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgccttcctgggccacaaCggggccggcaagaccaccac	11	18	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:1049413C>T	ENST00000263094.6	+	18	2760	c.2529C>T	c.(2527-2529)aaC>aaT	p.N843N	ABCA7_ENST00000433129.1_Silent_p.N843N|ABCA7_ENST00000435683.2_Silent_p.N705N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	843	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)		TGGGCCACAACGGGGCCGGCA	0.711																																					p.N843N		.											.	ABCA7-98	0			c.C2529T						.						28	33	31					19																	1049413		2195	4283	6478	SO:0001819	synonymous_variant	10347	exon18			CCACAACGGGGCC	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.2529C>T	19.37:g.1049413C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	92	48	NM_019112	0	0	0	0	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.711	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1049413	C	T	1049413	2	4	26	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1049413	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	530395	1049413	58079570	150	4510											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619333	1619333	+	Silent	SNP	G	G	A													accaggcctgcgtgccgcccGcccagtgacatggggccggt					rs1140828	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:1619333G>A	ENST00000262965.5	-	15	1652	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	TCF3_ENST00000453954.2_Silent_p.G352G|TCF3_ENST00000395423.3_Silent_p.G385G|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000588136.1_Silent_p.G436G|TCF3_ENST00000344749.5_Silent_p.G436G	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCCGCCCGCCCAGTGACA	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								G|||	1179	0.235423	0.1702	0.2435	5008	,	,		13595	0.2897		0.3032	False		,,,				2504	0.1922				p.G436G		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.C1308T						.	G	,	770,3572		79,612,1480	11	14	13		1308,1308	-3.3	0.4	19	dbSNP_86	13	2644,5770		436,1772,1999	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	515,2384,3479	AA,AG,GG		31.4238,17.7338,26.7639	,	436/652,436/655	1619333	3414,9342	2171	4207	6378	SO:0001819	synonymous_variant	6929	exon15			CCGCCCGCCCAGT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1308C>T	19.37:g.1619333G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003200	0	0	1	1	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.749;A|0.251		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1619333	G	A	1619333	2	1	26	1	0	0	0	0	0	0	0	1	15741	1074	38	1		1	TCF3	19	1619333	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	569920	1619333	57509650	151	4511	33	2									
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C													cctgcgtgccgcccgcccagTgacatggggccggtgaaacc					rs8140	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000453954.2_Silent_p.S350S|TCF3_ENST00000395423.3_Silent_p.S383S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003200	0	0	2	2	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	26	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	6	1619339	57509644	152	4512	33	2									
SEMA6B	10501	broad.mit.edu	37	chr19	4550277	4550277	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccgggggctgcgcagcAcccgggcctgggggtgacaa	17	14	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:4550277A>C	ENST00000586582.1	-	12	1439	c.1129T>G	c.(1129-1131)Tgc>Ggc	p.C377G	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C377G|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C377G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	377	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGCAGCACCCGGGCCTG	0.602																																					p.C377G		.											.	SEMA6B-91	0			c.T1129G						.						41	41	41					19																	4550277		2201	4295	6496	SO:0001583	missense	10501	exon12			CGCAGCACCCGGG	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1129T>G	19.37:g.4550277A>C	ENSP00000467290:p.Cys377Gly	Somatic	113	11		WXS	Illumina GAIIx	Phase_I	171	22	NM_032108	0	0	0	0	0	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	5.175	0.217910	0.09810	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.10477	2.87	2.6	2.6	0.31112	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058685	0.64402	U	0.000002	T	0.08044	0.0201	N	0.25380	0.74	0.38164	D	0.939116	B;B	0.14012	0.003;0.009	B;B	0.18871	0.023;0.018	T	0.16808	-1.0390	10	0.49607	T	0.09	.	10.2642	0.43445	1.0:0.0:0.0:0.0	.	377;377	B4DT36;Q9H3T3	.;SEM6B_HUMAN	G	377	ENSP00000301293:C377G	ENSP00000301292:C377G	C	-	1	0	SEMA6B	4501277	0.973000	0.33851	0.993000	0.49108	0.218000	0.24690	2.537000	0.45702	1.465000	0.48006	0.392000	0.25879	TGC	.		0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		C	4550277	A	C	4550277	3	2	26	1	0	0	0	0	1	0	0	0	14085	159	6	5	1561	5	SEMA6B	19	4550277	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2930938	4550277	54578706	153	4513											
FUT3	2525	bcgsc.ca	37	chr19	5843877	5843877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagcgaggccgcagcGtctcccgccagcgaaagtag	15	12	1	1	rs28381969	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:5843877G>A	ENST00000303225.6	-	3	1608	c.974C>T	c.(973-975)aCg>aTg	p.T325M	FUT3_ENST00000589620.1_Missense_Mutation_p.T325M|FUT3_ENST00000589918.1_Missense_Mutation_p.T325M|FUT3_ENST00000458379.2_Missense_Mutation_p.T325M|FUT3_ENST00000593144.1_5'Flank	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	325			T -> M (in dbSNP:rs28381969). {ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCGCAGCGTCTCCCGCCA	0.637													G|||	37	0.00738818	0.025	0.0043	5008	,	,		19604	0.001		0	False		,,,				2504	0				p.T325M	Esophageal Squamous(82;745 1728 24593 44831)	.											.	FUT3-90	0			c.C974T						.						42	45	44					19																	5843877		2203	4300	6503	SO:0001583	missense	2525	exon3			CGCAGCGTCTCCC		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.974C>T	19.37:g.5843877G>A	ENSP00000305603:p.Thr325Met	Somatic	862	218		WXS	Illumina GAIIx	Phase_I	1455	392	NM_001097640	0	0	0	0	0	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	36	0.016483516483516484	18	0.036585365853658534	1	0.0027624309392265192	6	0.01048951048951049	11	0.014511873350923483	G	12.11	1.838692	0.32513	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24350	1.86;1.86	2.29	1.18	0.20946	.	0.943966	0.08680	N	0.909636	T	0.07413	0.0187	M	0.79805	2.47	0.09310	N	1	P;P;P;P	0.38617	0.64;0.483;0.483;0.483	B;B;B;B	0.36186	0.219;0.148;0.148;0.148	T	0.11494	-1.0585	10	0.37606	T	0.19	.	5.4124	0.16356	0.1897:0.0:0.8103:0.0	rs28381969	325;325;325;325	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	325	ENSP00000305603:T325M;ENSP00000416443:T325M	ENSP00000305603:T325M	T	-	2	0	FUT3	5794877	0.000000	0.05858	0.620000	0.29132	0.507000	0.33981	-1.150000	0.03178	0.242000	0.21303	0.194000	0.17425	ACG	G|0.992;A|0.008		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843877	G	A	5843877	3	1	26	1	0	0	0	0	1	0	0	0	6129	1145	40	1	115	1	FUT3	19	5843877	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	1293600	5843877	53285106	154	4514											
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938159	14938159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtattcccagagcccTctttatgtctttattcctca	4	12	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:14938159T>C	ENST00000322301.3	-	2	982	c.895A>G	c.(895-897)Agg>Ggg	p.R299G	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R299G			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	299					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCCAGAGCCCTCTTTATGTCT	0.463																																					p.R299G		.											.	OR7A5-90	0			c.A895G						.						83	81	82					19																	14938159		2203	4300	6503	SO:0001583	missense	26659	exon1			GAGCCCTCTTTAT	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.895A>G	19.37:g.14938159T>C	ENSP00000316955:p.Arg299Gly	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	61	5	NM_017506	0	0	0	0	0	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	2.393	-0.339434	0.05243	.	.	ENSG00000188269	ENST00000322301	T	0.39056	1.1	3.12	-5.2	0.02823	.	.	.	.	.	T	0.15305	0.0369	N	0.10760	0.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.30995	-0.9959	9	0.07990	T	0.79	.	5.2449	0.15490	0.0:0.4143:0.3209:0.2648	.	299	Q15622	OR7A5_HUMAN	G	299	ENSP00000316955:R299G	ENSP00000316955:R299G	R	-	1	2	OR7A5	14799159	0.000000	0.05858	0.002000	0.10522	0.378000	0.30076	-1.822000	0.01711	-1.233000	0.02551	0.102000	0.15555	AGG	.		0.463	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		C	14938159	T	C	14938159	3	2	26	1	0	0	0	0	1	0	0	0	11255	1550	54	4	68	4	OR7A5	19	14938159	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	9094282	14938159	44190824	155	4515											
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G													atgtctttattcctcagactAtagataaaggggttcagcat					rs200531878		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	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		.											.	OR7A5-90	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		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	87	6	NM_017506	0	0	0	0	0	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			A|0.999;G|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	26	1	0	0	0	0	0	0	0	1	11255	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	25	14938184	44190799	156	4516	34	2									
OR7A5	26659	hgsc.bcm.edu	37	chr19	14938190	14938190	+	Silent	SNP	A	A	G													ttattcctcagactatagatAaaggggttcagcatgggggt					rs2240561	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:14938190A>G	ENST00000322301.3	-	2	951	c.864T>C	c.(862-864)ttT>ttC	p.F288F	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.F288F			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	288					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GACTATAGATAAAGGGGTTCA	0.473																																					p.F288F		.											.	OR7A5-90	0			c.T864C						.						73	71	71					19																	14938190		2203	4300	6503	SO:0001819	synonymous_variant	26659	exon1			ATAGATAAAGGGG	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.864T>C	19.37:g.14938190A>G		Somatic	70	1		WXS	Illumina GAIIx	Phase_I	97	6	NM_017506	0	0	0	0	0	B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	CCDS12318.1																																																																																			A|0.999;G|0.001		0.473	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938190	A	G	14938190	2	3	26	1	0	0	0	0	0	0	0	1	11255	359	13	4		4	OR7A5	19	14938190	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	6	14938190	44190793	157	4517	34	2									
NOTCH3	4854	bcgsc.ca	37	chr19	15303225	15303225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggcatgagaatcgggcGgtgccagccaccactgaact	12	14	0	2	rs3815188	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:15303225G>A	ENST00000263388.2	-	3	378	c.303C>T	c.(301-303)acC>acT	p.T101T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	101	EGF-like 2. {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)			AGAATCGGGCGGTGCCAGCCA	0.662													G|||	1122	0.224042	0.2496	0.1599	5008	,	,		15642	0.3899		0.1471	False		,,,				2504	0.1431				p.T101T		.											.	NOTCH3-855	0			c.C303T						.	G		1119,3279		144,831,1224	22	21	21		303	-2.4	0	19	dbSNP_107	21	1262,7322		103,1056,3133	no	coding-synonymous	NOTCH3	NM_000435.2		247,1887,4357	AA,AG,GG		14.7018,25.4434,18.3408		101/2322	15303225	2381,10601	2199	4292	6491	SO:0001819	synonymous_variant	4854	exon3			TCGGGCGGTGCCA	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.303C>T	19.37:g.15303225G>A		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	283	8	NM_000435	0	0	1	1	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			G|0.773;A|0.227		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15303225	G	A	15303225	2	1	26	1	0	0	0	0	0	0	0	1	10589	1103	39	1		1	NOTCH3	19	15303225	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	365035	15303225	43825758	158	4518											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_012088	0	0	3	18	15		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	26	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	2319389	17622614	41506369	159	4519											
ZNF676	163223	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	22362756	22362756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttttagGgattctctccagtatgaatt	5	9	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:22362756G>A	ENST00000397121.2	-	3	2080	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	588					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)				ACATTTTTAGGGATTCTCTCC	0.348																																					p.P588L		.											.	ZNF676-90	0			c.C1763T						.						43	45	44					19																	22362756		2034	4212	6246	SO:0001583	missense	163223	exon3			TTTTAGGGATTCT	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.1763C>T	19.37:g.22362756G>A	ENSP00000380310:p.Pro588Leu	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	75	7	NM_001001411	0	0	0	0	0	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.974252	0.34848	.	.	ENSG00000196109	ENST00000397121	T	0.13901	2.55	0.109	-0.218	0.13142	Zinc finger, C2H2 (1);	.	.	.	.	T	0.20373	0.0490	L	0.48362	1.52	0.09310	N	0.999999	D	0.63880	0.993	P	0.57101	0.813	T	0.16247	-1.0409	9	0.87932	D	0	.	6.3309	0.21269	0.2477:0.0:0.7523:0.0	.	588	Q8N7Q3	ZN676_HUMAN	L	588	ENSP00000380310:P588L	ENSP00000380310:P588L	P	-	2	0	ZNF676	22154596	0.007000	0.16637	0.019000	0.16419	0.019000	0.09904	1.135000	0.31454	-1.122000	0.02945	-1.109000	0.02080	CCC	.		0.348	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22362756	G	A	22362756	3	1	26	1	0	0	0	0	1	0	0	0	18131	1232	43	3	7	3	ZNF676	19	22362756	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	4740142	22362756	36766227	160	4520											
NUDT19	390916	hgsc.bcm.edu	37	chr19	33183316	33183316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacttccccaccaggcccAgcacccgggcctggcctcgc	11	20	0	0	rs8109823	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:33183316A>G	ENST00000397061.3	+	1	450	c.450A>G	c.(448-450)ccA>ccG	p.P150P	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	150	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CACCAGGCCCAGCACCCGGGC	0.761													A|||	881	0.175919	0.2216	0.0965	5008	,	,		10642	0.2153		0.1779	False		,,,				2504	0.1278				p.P150P		.											.	NUDT19-22	0			c.A450G						.	A		599,3181		35,529,1326	6	8	7		450	-7.1	0	19	dbSNP_116	7	1035,7031		77,881,3075	no	coding-synonymous	NUDT19	NM_001105570.1		112,1410,4401	GG,GA,AA		12.8316,15.8466,13.7937		150/376	33183316	1634,10212	1890	4033	5923	SO:0001819	synonymous_variant	390916	exon1			AGGCCCAGCACCC		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.450A>G	19.37:g.33183316A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_001105570	0	0	0	0	0		Silent	SNP	ENST00000397061.3	37	CCDS42543.1																																																																																			A|0.805;G|0.195		0.761	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		G	33183316	A	G	33183316	2	3	26	1	0	0	0	0	0	0	0	1	10775	175	7	4		4	NUDT19	19	33183316	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	10820560	33183316	25945667	161	4521											
CATSPERG	57828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	38851407	38851407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccagaagggccagctgGtcaagaggctcgtgcccgtg	14	12	1	2	rs372780505		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:38851407G>A	ENST00000409235.3	+	16	1919	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V562I|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	602					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGGCCAGCTGGTCAAGAGGCT	0.607																																					p.V602I		.											.	CATSPERG-92	0			c.G1804A						.						38	33	35					19																	38851407		2203	4300	6503	SO:0001583	missense	57828	exon16			CAGCTGGTCAAGA	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1804G>A	19.37:g.38851407G>A	ENSP00000386962:p.Val602Ile	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	430	42	NM_021185	0	0	0	0	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686268	0.29962	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.32023	1.91;1.91;1.47	4.67	-1.53	0.08611	.	0.971401	0.08428	N	0.947318	T	0.18045	0.0433	L	0.34521	1.04	0.23440	N	0.997674	B;B	0.15930	0.015;0.009	B;B	0.20184	0.028;0.022	T	0.35748	-0.9776	10	0.12766	T	0.61	-25.0376	4.3986	0.11376	0.3791:0.1606:0.4603:0.0	.	602;562	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	I	562;602;602	ENSP00000387057:V562I;ENSP00000386962:V602I;ENSP00000386950:V602I	ENSP00000386962:V602I	V	+	1	0	CATSPERG	43543247	0.897000	0.30589	0.154000	0.22540	0.121000	0.20230	-0.019000	0.12546	-0.006000	0.14370	0.467000	0.42956	GTC	.		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		A	38851407	G	A	38851407	3	1	26	1	0	0	0	0	1	0	0	0	2699	1261	44	3	1862	3	CATSPERG	19	38851407	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	5668091	38851407	20277576	162	4522											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	1	1		WXS	Illumina GAIIx	Phase_I	2	2	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	26	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	509313	39360720	19768263	163	4523											
ATP1A3	478	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42486218	42486218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttcttcaccaggcagTtcttccgggccatgcgcttg	11	14	3	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:42486218T>G	ENST00000302102.5	-	9	1184	c.1034A>C	c.(1033-1035)aAc>aCc	p.N345T	ATP1A3_ENST00000545399.1_Missense_Mutation_p.N358T|ATP1A3_ENST00000602133.1_Missense_Mutation_p.N315T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N356T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	345					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						caccaggcagttcttccGGGC	0.597																																					p.N358T		.											.	ATP1A3-92	0			c.A1073C						.						137	125	129					19																	42486218		2203	4300	6503	SO:0001583	missense	478	exon9			AGGCAGTTCTTCC		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.1034A>C	19.37:g.42486218T>G	ENSP00000302397:p.Asn345Thr	Somatic	305	0		WXS	Illumina GAIIx	Phase_I	546	29	NM_001256214	0	0	5	6	1	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222088	0.79464	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.21	4.21	0.49690	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.99516	4.605	0.80722	D	1	D;D;D;D	0.65815	0.994;0.991;0.995;0.993	D;D;D;D	0.68943	0.958;0.934;0.955;0.961	D	0.97622	1.0136	10	0.87932	D	0	.	11.5777	0.50873	0.0:0.0:0.0:1.0	.	358;356;345;345	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	345;345;358;315;89;356	ENSP00000302397:N345T;ENSP00000411503:N345T;ENSP00000444688:N358T;ENSP00000437577:N356T	ENSP00000302397:N345T	N	-	2	0	ATP1A3	47178058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	1.910000	0.55303	0.459000	0.35465	AAC	.		0.597	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		G	42486218	T	G	42486218	3	3	26	1	0	0	0	0	1	0	0	0	1131	1725	60	5	2067	5	ATP1A3	19	42486218	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	3125498	42486218	16642765	164	4524											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_000400	0	0	3	7	4	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	26	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	3381041	45867259	13261724	165	4525											
ZC3H4	23211	hgsc.bcm.edu;ucsc.edu	37	chr19	47575243	47575243	+	Silent	SNP	T	T	A													ggcatgtctgcgtgcatgtcTgcgtgcatgtcagggtgcat					rs392366		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtctgcgtgcatgt	0.662																																					p.A646A		.											.	ZC3H4-74	0			c.A1938T						.	C		1,4247		0,1,2123	31	36	34		1938	-10.4	0	19	dbSNP_80	34	6,8510		0,6,4252	no	coding-synonymous	ZC3H4	NM_015168.1		0,7,6375	AA,AT,TT		0.0705,0.0235,0.0548		646/1304	47575243	7,12757	2124	4258	6382	SO:0001819	synonymous_variant	23211	exon13			CATGTCTGCGTGC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1938A>T	19.37:g.47575243T>A		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	91	33	NM_015168	0	0	3	3	0	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																			A|0.000;G|0.000;T|1.000		0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47575243	T	A	47575243	2	1	26	1	0	0	0	0	0	0	0	1	17618	1567	55	5		5	ZC3H4	19	47575243	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	1707984	47575243	11553740	166	4526	35	2									
ZC3H4	23211	hgsc.bcm.edu;ucsc.edu	37	chr19	47575245	47575245	+	Missense_Mutation	SNP	C	C	G													catgtctgcgtgcatgtctgCgtgcatgtcagggtgcatgt					rs381976		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:47575245C>G	ENST00000253048.5	-	13	1973	c.1936G>C	c.(1936-1938)Gca>Cca	p.A646P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		tgcatgtctgcgtgcatgtca	0.662																																					p.A646P		.											.	ZC3H4-74	0			c.G1936C						.						31	35	34					19																	47575245		2118	4259	6377	SO:0001583	missense	23211	exon13			TGTCTGCGTGCAT	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1936G>C	19.37:g.47575245C>G	ENSP00000253048:p.Ala646Pro	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	92	31	NM_015168	0	0	2	2	0	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	1.939	-0.444005	0.04604	.	.	ENSG00000130749	ENST00000253048	T	0.17528	2.27	5.21	5.21	0.72293	.	0.405917	0.24076	N	0.041773	T	0.08044	0.0201	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.02654	T	1	.	13.2185	0.59873	0.0:0.1603:0.8397:0.0	rs381976;rs381976	646	Q9UPT8	ZC3H4_HUMAN	P	646	ENSP00000253048:A646P	ENSP00000253048:A646P	A	-	1	0	ZC3H4	52267085	1.000000	0.71417	0.916000	0.36221	0.011000	0.07611	4.019000	0.57181	1.200000	0.43188	-0.132000	0.14878	GCA	C|1.000;|0.000		0.662	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			G	47575245	C	G	47575245	3	3	26	1	0	0	0	0	1	0	0	0	17618	768	27	2	1987	2	ZC3H4	19	47575245	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	2	47575245	11553738	167	4527	35	2									
ZC3H4	23211	hgsc.bcm.edu	37	chr19	47575267	47575267	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtcagggtgcatgtcCgggtgcatgtcggggtgcat	17	8	1	0	rs200656728		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:47575267C>G	ENST00000253048.5	-	13	1951	c.1914G>C	c.(1912-1914)ccG>ccC	p.P638P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	638	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ggtgcatgtccgggtgcatgt	0.667																																					p.P638P		.											.	ZC3H4-74	0			c.G1914C						.						34	38	36					19																	47575267		2110	4239	6349	SO:0001819	synonymous_variant	23211	exon13			CATGTCCGGGTGC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1914G>C	19.37:g.47575267C>G		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	100	16	NM_015168	0	0	1	1	0	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																			C|1.000;A|0.000		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			G	47575267	C	G	47575267	2	3	26	1	0	0	0	0	0	0	0	1	17618	639	23	2		2	ZC3H4	19	47575267	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	22	47575267	11553716	168	4528											
GRIN2D	2906	hgsc.bcm.edu	37	chr19	48945880	48945880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtacagctgctgcagcgcTgaggccgccccaccgcccgc	12	18	0	1	rs62130268	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:48945880T>C	ENST00000263269.3	+	13	2785	c.2697T>C	c.(2695-2697)gcT>gcC	p.A899A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	899					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)	GCTGCAGCGCTGAGGCCGCCC	0.781													c|||	3742	0.747204	0.6188	0.8545	5008	,	,		4716	0.6548		0.8887	False		,,,				2504	0.7945				p.A899A		.											.	GRIN2D-156	0			c.T2697C						.			1689,437		638,413,12	1	1	1		2697	-3.3	1	19	dbSNP_129	1	3712,202		1757,198,2	no	coding-synonymous	GRIN2D	NM_000836.2		2395,611,14	CC,CT,TT		5.161,20.555,10.5795		899/1337	48945880	5401,639	1063	1957	3020	SO:0001819	synonymous_variant	2906	exon13			CAGCGCTGAGGCC	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.2697T>C	19.37:g.48945880T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000836	0	0	0	0	0		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																			T|0.245;C|0.755		0.781	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			C	48945880	T	C	48945880	2	2	26	1	0	0	0	0	0	0	0	1	6809	1567	55	4		4	GRIN2D	19	48945880	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	1370613	48945880	10183103	169	4529											
RASIP1	54922	hgsc.bcm.edu	37	chr19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagccgggccaggcGgcccagcagtcgtggcaggt	17	12	0	2	rs2287922	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2	3	3		1801	4.2	1	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	Somatic	1	1		WXS	Illumina GAIIx	Phase_I	5	5	NM_017805	0	0	0	1	1	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49232226	G	A	49232226	3	1	26	1	0	0	0	0	1	0	0	0	13123	1116	39	1	1122	1	RASIP1	19	49232226	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	286346	49232226	9896757	170	4530											
C19orf76	199800	broad.mit.edu	37	chr19	50193643	50193643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacggctcgtcccctcctcGgcttcagtttgcctatctgt	9	16	2	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:50193643G>T	ENST00000420022.3	+	2	1529	c.355G>T	c.(355-357)Ggc>Tgc	p.G119C	CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000323446.5_5'Flank|CPT1C_ENST00000598293.1_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000354199.5_5'Flank	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	119						extracellular region (GO:0005576)											tcccctcctcggcttcagttt	0.642																																					p.G119C		.											.	.	0			c.G355T						.						39	47	44					19																	50193643		1365	2829	4194	SO:0001583	missense	199800	exon2			CTCCTCGGCTTCA	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 76", "adrenomedullin 5 homolog (pig)"	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.355G>T	19.37:g.50193643G>T	ENSP00000393631:p.Gly119Cys	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	378	12	NM_001101340	0	0	0	0	0		Missense_Mutation	SNP	ENST00000420022.3	37	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352599	0.24512	.	.	ENSG00000224420	ENST00000420022	.	.	.	1.91	-1.72	0.08107	.	.	.	.	.	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.14090	-1.0485	8	0.87932	D	0	.	2.8148	0.05453	0.3315:0.2476:0.421:0.0	.	119	C9JUS6	ADM5_HUMAN	C	119	.	ENSP00000393631:G119C	G	+	1	0	C19orf76	54885455	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-0.191000	0.09601	-0.335000	0.08451	0.561000	0.74099	GGC	.		0.642	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		T	50193643	G	T	50193643	3	4	26	1	0	0	0	0	1	0	0	0	1957	1116	39	2	361	2	C19orf76	19	50193643	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	961417	50193643	8935340	171	4531											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	26	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	821761	51015404	8113579	172	4532											
KLK10	5655	ucsc.edu	37	chr19	51520487	51520487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgcgcgcgcacggggAgccataggcttcggggtcca	17	14	0	0	rs3745535	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:51520487A>C	ENST00000309958.3	-	3	366	c.148T>G	c.(148-150)Tcc>Gcc	p.S50A	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000391805.1_Missense_Mutation_p.S50A|KLK10_ENST00000358789.3_Missense_Mutation_p.S50A	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		S -> A (in dbSNP:rs3745535). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8764136, ECO:0000269|PubMed:9647736}.		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)		GCGCACGGGGAGCCATAGGCT	0.667											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3477	0.694289	0.9811	0.6772	5008	,	,		13846	0.6548		0.6213	False		,,,				2504	0.4346				p.S50A		.											.	KLK10-650	0			c.T148G						.	C	ALA/SER,ALA/SER,ALA/SER	4053,343		1865,323,10	13	16	15		148,148,148	-2.8	0	19	dbSNP_107	15	5503,3077		1812,1879,599	yes	missense,missense,missense	KLK10	NM_001077500.1,NM_002776.4,NM_145888.2	99,99,99	3677,2202,609	CC,CA,AA		35.8625,7.8025,26.3564	benign,benign,benign	50/277,50/277,50/277	51520487	9556,3420	2198	4290	6488	SO:0001583	missense	5655	exon3			ACGGGGAGCCATA	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.148T>G	19.37:g.51520487A>C	ENSP00000311746:p.Ser50Ala	Somatic	15	0	978	WXS	Illumina GAIIx	Phase_I	140	20	NM_145888	0	0	0	0	0	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	1543	0.7065018315018315	471	0.9573170731707317	246	0.6795580110497238	355	0.6206293706293706	471	0.6213720316622692	N	3.474	-0.107412	0.06924	0.921975	0.641375	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.88741	-2.42;-2.42;-2.42	4.11	-2.83	0.05769	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.00012	0.0000	L	0.35854	1.095	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.34054	-0.9844	8	0.15066	T	0.55	.	4.8825	0.13686	0.1624:0.2641:0.0:0.5735	rs3745535;rs17728200;rs17856072;rs59150705;rs3745535	50	O43240	KLK10_HUMAN	A	50	ENSP00000375681:S50A;ENSP00000311746:S50A;ENSP00000351640:S50A	ENSP00000311746:S50A	S	-	1	0	KLK10	56212299	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.050000	0.03510	-0.576000	0.05974	-1.392000	0.01152	TCC	A|0.266;C|0.734		0.667	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		C	51520487	A	C	51520487	3	2	26	1	0	0	0	0	1	0	0	0	8425	304	11	5	698	5	KLK10	19	51520487	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	505083	51520487	7608496	173	4533											
KLK12	43849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51532678	51532678	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caggacaccagaccttgaagGactcccccacacaccagggg	10	16	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:51532678G>T	ENST00000525263.1	-	5	746	c.627C>A	c.(625-627)gtC>gtA	p.V209V	KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000594768.1_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250352.11_Silent_p.V99V|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.V209V|KLK11_ENST00000453757.3_5'Flank|KLK12_ENST00000529888.1_3'UTR|KLK11_ENST00000600362.1_5'Flank|KLK12_ENST00000250351.4_Silent_p.V209V			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GACCTTGAAGGACTCCCCCAC	0.547																																					p.V209V		.											.	KLK12-227	0			c.C627A						.						63	67	66					19																	51532678		2203	4300	6503	SO:0001819	synonymous_variant	43849	exon6			TTGAAGGACTCCC		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.627C>A	19.37:g.51532678G>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	83	39	NM_019598	0	0	0	0	0	Q9UKR1|Q9UKR2	Silent	SNP	ENST00000525263.1	37	CCDS12821.1																																																																																			.		0.547	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		T	51532678	G	T	51532678	2	4	26	1	0	0	0	0	0	0	0	1	8427	1161	41	3		3	KLK12	19	51532678	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	12191	51532678	7596305	174	4534											
ZNF765	91661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53912284	53912284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcatactggacagaaAccttacaaatgtgaagattg	8	7	1	4			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr19:53912284A>G	ENST00000396408.3	+	4	1593	c.1476A>G	c.(1474-1476)aaA>aaG	p.K492K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTGGACAGAAACCTTACAAAT	0.388																																					p.K492K		.											.	ZNF765-69	0			c.A1476G						.						64	68	66					19																	53912284		2200	4300	6500	SO:0001819	synonymous_variant	91661	exon4			ACAGAAACCTTAC	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1476A>G	19.37:g.53912284A>G		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	166	33	NM_001040185	0	0	0	0	0	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	CCDS46171.1																																																																																			.		0.388	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		G	53912284	A	G	53912284	2	3	26	1	0	0	0	0	0	0	0	1	18187	40	2	4		4	ZNF765	19	53912284	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	2379606	53912284	5216699	175	4535											
SIRPB2	284759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	1456854	1456854	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggtgttcatggctccTgctgggcctgtggtcttgac	14	10	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr20:1456854T>A	ENST00000359801.3	-	5	1023	c.987A>T	c.(985-987)gcA>gcT	p.A329A	SIRPB2_ENST00000444444.2_Silent_p.A231A|SIRPB2_ENST00000608747.1_5'Flank	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	363	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATGGCTCCTGCTGGGCCTG	0.602																																					p.A329A		.											.	SIRPB2-226	0			c.A987T						.						141	123	128					20																	1456854		1568	3582	5150	SO:0001819	synonymous_variant	284759	exon5			GGCTCCTGCTGGG	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.987A>T	20.37:g.1456854T>A		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	215	61	NM_001122962	0	0	0	0	0	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	CCDS42849.1																																																																																			.		0.602	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		A	1456854	T	A	1456854	2	1	26	1	0	0	0	0	0	0	0	1	14379	1567	55	5		5	SIRPB2	20	1456854	Silent	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10		1456854	61568666	176	4536											
SLC4A11	83959	bcgsc.ca	37	chr20	3211402	3211402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagagcgccaggggcgCggtggtcagcagaatcacca	16	10	2	2	rs376120280		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr20:3211402C>T	ENST00000380056.3	-	10	1353	c.1306G>A	c.(1306-1308)Gcg>Acg	p.A436T	SLC4A11_ENST00000380059.3_Missense_Mutation_p.A463T|SLC4A11_ENST00000539553.2_Missense_Mutation_p.A420T|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	436	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCAGGGGCGCGGTGGTCAGC	0.682																																					p.A463T	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.G1387A						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	39	47	44		1258,1387,1306	4.2	0.9	20		44	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	420/876,463/919,436/892	3211402	2,13004	2203	4300	6503	SO:0001583	missense	83959	exon11			GGGGCGCGGTGGT	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.1306G>A	20.37:g.3211402C>T	ENSP00000369396:p.Ala436Thr	Somatic	102	2		WXS	Illumina GAIIx	Phase_I	155	30	NM_001174090	0	0	0	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108371	0.77096	0.0	2.33E-4	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78816	-1.21;-1.21;-1.21	5.12	4.17	0.49024	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	M	0.85373	2.75	0.80722	D	1	P;P;P	0.48016	0.883;0.904;0.904	B;B;B	0.42112	0.258;0.376;0.376	D	0.83901	0.0290	10	0.72032	D	0.01	.	11.9396	0.52892	0.0:0.9141:0.0:0.0859	.	420;463;436	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	T	463;436;420	ENSP00000369399:A463T;ENSP00000369396:A436T;ENSP00000441370:A420T	ENSP00000369396:A436T	A	-	1	0	SLC4A11	3159402	1.000000	0.71417	0.895000	0.35142	0.986000	0.74619	4.612000	0.61169	2.384000	0.81235	0.563000	0.77884	GCG	.		0.682	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3211402	C	T	3211402	3	4	26	1	0	0	0	0	1	0	0	0	14697	768	27	1	1409	1	SLC4A11	20	3211402	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	1754548	3211402	59814118	177	4537											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	2	1		WXS	Illumina GAIIx	Phase_I	6	4	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	26	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	34165737	37377139	25648381	178	4538											
SLC9A8	23315	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	48494522	48494523	+	Frame_Shift_Del	DEL	AT	AT	-													ctttggtttgtttcagaaacAtgtgtgtttgcatttcttgg							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr20:48494522_48494523delAT	ENST00000361573.2	+	12	1122_1123	c.1080_1081delAT	c.(1078-1083)acatgtfs	p.C361fs	SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.C142fs|SLC9A8_ENST00000541138.1_Frame_Shift_Del_p.C61fs|SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.C377fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	361					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTCAGAAACATGTGTGTTTGC	0.332																																					p.376_377del		.											.	SLC9A8-91	0			c.1128_1129del						.																																			SO:0001589	frameshift_variant	23315	exon12			AGAAACATGTGTG	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1080_1081delAT	20.37:g.48494522_48494523delAT	ENSP00000354966:p.Cys361fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	70	13	NM_001260491	0	0	0	0	0	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL	ENST00000361573.2	37	CCDS13421.1																																																																																			.		0.332	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		-	48494523	AT	-	48494522	7	5	26	1	0	1	0	1	0	0	0	0	14765	204	8	0	1126	0	SLC9A8	20	48494522	Frame_Shift_Del	DEL	AT	TCGA-OR-A5K2-01A-11D-A29I-10	11117383	48494522	14530998	179	4539											
POTEH	23784	hgsc.bcm.edu	37	chr22	16287622	16287622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtcttcatagcagaAtcgtcgtggtctccagaagt	11	9	3	3	rs200785274	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:16287622A>G	ENST00000343518.6	-	1	315	c.264T>C	c.(262-264)gaT>gaC	p.D88D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	88										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAATCGTCGTGGT	0.607													A|||	8	0.00159744	0.0023	0	5008	,	,		27509	0.001		0.001	False		,,,				2504	0.0031				p.D88D		.											.	POTEH-1	0			c.T264C						.						58	68	64					22																	16287622		1819	3495	5314	SO:0001819	synonymous_variant	23784	exon1			AGCAGAATCGTCG	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.264T>C	22.37:g.16287622A>G		Somatic	24	2		WXS	Illumina GAIIx	Phase_I	42	14	NM_001136213	0	0	0	0	0	A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	CCDS46658.1																																																																																			A|0.957;G|0.044		0.607	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		G	16287622	A	G	16287622	2	3	26	1	0	0	0	0	0	0	0	1	12306	98	4	4		4	POTEH	22	16287622	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10		16287622	35016944	180	4540											
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18293575	18293575	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttcctcctccgtgtaggttCttggctggagagaacaagag	13	9	1	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:18293575C>T	ENST00000441493.2	-	28	5802	c.5450G>A	c.(5449-5451)aGa>aAa	p.R1817K	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1817					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)		CGTGTAGGTTCTTGGCTGGAG	0.612																																					p.R1817K		.											.	MICAL3-68	0			c.G5450A						.						70	72	71					22																	18293575		2163	4274	6437	SO:0001583	missense	57553	exon28			TAGGTTCTTGGCT	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.5450G>A	22.37:g.18293575C>T	ENSP00000416015:p.Arg1817Lys	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	264	76	NM_015241	0	0	0	0	0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.024305|3.024305	0.54683|0.54683	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.61742	.|0.08	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.229263	.|0.36200	.|N	.|0.002727	T|T	0.38026|0.38026	0.1025|0.1025	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.08055	.|0.003	T|T	0.21075|0.21075	-1.0256|-1.0256	5|9	.|.	.|.	.|.	.|.	12.6462|12.6462	0.56735|0.56735	0.0:0.9204:0.0:0.0796|0.0:0.9204:0.0:0.0796	.|.	.|1817	.|Q7RTP6	.|MICA3_HUMAN	K|K	799|1817	.|ENSP00000416015:R1817K	.|.	E|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16673575|16673575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.827000|3.827000	0.55745|0.55745	2.293000|2.293000	0.77203|0.77203	0.462000|0.462000	0.41574|0.41574	GAA|AGA	.		0.612	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18293575	C	T	18293575	3	4	26	1	0	0	0	0	1	0	0	0	9609	913	32	3	578	3	MICAL3	22	18293575	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	2005953	18293575	33010991	181	4541											
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18304242	18304242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagagctgattcctggGgagaccggatggggctggtg	18	7	0	4			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:18304242G>A	ENST00000441493.2	-	25	3834	c.3482C>T	c.(3481-3483)cCc>cTc	p.P1161L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1161	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGATTCCTGGGGAGACCGGAT	0.572																																					p.P1161L		.											.	MICAL3-68	0			c.C3482T						.						34	36	36					22																	18304242		1839	4000	5839	SO:0001583	missense	57553	exon25			TCCTGGGGAGACC	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.3482C>T	22.37:g.18304242G>A	ENSP00000416015:p.Pro1161Leu	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	59	14	NM_015241	0	0	0	2	2	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.960|1.960	-0.439029|-0.439029	0.04636|0.04636	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.64438|.	-0.1|.	4.43|4.43	3.39|3.39	0.38822|0.38822	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.25144|0.25144	0.715|0.715	0.19775|0.19775	N|N	0.99995|0.99995	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.14062|0.14062	-1.0486|-1.0486	9|6	0.52906|0.33141	T|T	0.07|0.24	.|.	8.8595|8.8595	0.35249|0.35249	0.1119:0.0:0.8881:0.0|0.1119:0.0:0.8881:0.0	.|.	1161|.	Q7RTP6|.	MICA3_HUMAN|.	L|S	1161|143	ENSP00000416015:P1161L|.	ENSP00000416015:P1161L|ENSP00000252134:P143S	P|P	-|-	2|1	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16684242|16684242	0.884000|0.884000	0.30299|0.30299	0.020000|0.020000	0.16555|0.16555	0.002000|0.002000	0.02628|0.02628	2.382000|2.382000	0.44345|0.44345	2.180000|2.180000	0.69256|0.69256	0.561000|0.561000	0.74099|0.74099	CCC|CCC	.		0.572	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18304242	G	A	18304242	3	1	26	1	0	0	0	0	1	0	0	0	9609	1232	43	3	2558	3	MICAL3	22	18304242	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	10667	18304242	33000324	182	4542											
PI4KA	5297	hgsc.bcm.edu;bcgsc.ca	37	chr22	21150496	21150496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcccctccagccccagctGcacaaacaactccaacaggt	5	19	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:21150496G>C	ENST00000572273.1	-	18	2271	c.2041C>G	c.(2041-2043)Cag>Gag	p.Q681E	PI4KA_ENST00000255882.6_Missense_Mutation_p.Q739E|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	681					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)			AGCCCCAGCTGCACAAACAAC	0.592																																					p.Q739E	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.C2215G						.						94	68	77					22																	21150496		2203	4300	6503	SO:0001583	missense	5297	exon18			CCAGCTGCACAAA	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.2041C>G	22.37:g.21150496G>C	ENSP00000458238:p.Gln681Glu	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	187	14	NM_058004	0	0	1	1	0	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	26.4	4.731242	0.89390	.	.	ENSG00000241973	ENST00000255882	T	0.41758	0.99	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.65788	-0.6083	10	0.66056	D	0.02	-22.058	17.6482	0.88154	0.0:0.0:1.0:0.0	.	681	P42356	PI4KA_HUMAN	E	681	ENSP00000255882:Q681E	ENSP00000255882:Q681E	Q	-	1	0	PI4KA	19480496	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.586000	0.98226	2.402000	0.81655	0.591000	0.81541	CAG	.		0.592	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		C	21150496	G	C	21150496	3	2	26	1	0	0	0	0	1	0	0	0	11912	1328	46	3	4245	3	PI4KA	22	21150496	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	2846254	21150496	30154070	183	4543											
PIWIL3	440822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	25115501	25115501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgaatggactgccccaCgaggtaagccagcttgtggg	15	10	0	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:25115501C>T	ENST00000332271.5	-	21	3003	c.2587G>A	c.(2587-2589)Gtg>Atg	p.V863M	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V745M|PIWIL3_ENST00000527701.1_Missense_Mutation_p.V745M	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	863	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACTGCCCCACGAGGTAAGCC	0.453																																					p.V863M		.											.	PIWIL3-93	0			c.G2587A						.						126	114	118					22																	25115501		2203	4300	6503	SO:0001583	missense	440822	exon21			GCCCCACGAGGTA	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2587G>A	22.37:g.25115501C>T	ENSP00000330031:p.Val863Met	Somatic	223	0		WXS	Illumina GAIIx	Phase_I	272	90	NM_001008496	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779077	0.49891	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.32753	1.44;1.44;1.44	3.14	3.14	0.36123	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000004	T	0.59155	0.2173	M	0.88570	2.965	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.999	T	0.68469	-0.5400	10	0.87932	D	0	-10.2155	12.5371	0.56147	0.0:1.0:0.0:0.0	.	745;854;863	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	M	863;745;745	ENSP00000330031:V863M;ENSP00000431843:V745M;ENSP00000435718:V745M	ENSP00000330031:V863M	V	-	1	0	PIWIL3	23445501	1.000000	0.71417	0.809000	0.32408	0.022000	0.10575	6.136000	0.71703	2.082000	0.62665	0.555000	0.69702	GTG	.		0.453	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25115501	C	T	25115501	3	4	26	1	0	0	0	0	1	0	0	0	11998	536	19	1	65	1	PIWIL3	22	25115501	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	3965005	25115501	26189065	184	4544											
NEFH	4744	ucsc.edu	37	chr22	29885564	29885564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctccaacgaaggaggaAgcaaagtcccctgagaaggc	12	10	1	1	rs202065964|rs371230849		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885564A>G	ENST00000310624.6	+	4	1968	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	645	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CGAAGGAGGAAGCAAAGTCCC	0.562																																					p.E645E		.											.	NEFH-90	0			c.A1935G						.						83	89	87					22																	29885564		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GGAGGAAGCAAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1935A>G	22.37:g.29885564A>G		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	54	13	NM_021076	0	0	3	3	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885564	A	G	29885564	2	3	26	1	0	0	0	0	0	0	0	1	10353	69	3	4		4	NEFH	22	29885564	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	4770063	29885564	21419002	185	4545			4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
NEFH	4744	hgsc.bcm.edu	37	chr22	29885594	29885594	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	13	11	0	3	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																					p.P655P		.											.	NEFH-90	0			c.A1965T						.						83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GTCCCCAGAGAAG		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.1965A>T	22.37:g.29885594A>T		Somatic	247	0		WXS	Illumina GAIIx	Phase_I	96	13	NM_021076	0	0	5	5	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			A|0.500;T|0.500		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	26	1	0	0	0	0	0	0	0	1	10353	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	30	29885594	21418972	186	4546			4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
NEFH	4744	bcgsc.ca	37	chr22	29885670	29885693	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGCAGAAGCA	AAGTCCCCAGTGAAGGCAGAAGCA	-													caaagtcccctgagaaggccAagtccccagtgaaggcagaa					rs200302220|rs113936045		TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	AAGTCCCCAGTGAAGGCAGAAGCA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885670_29885693delAAGTCCCCAGTGAAGGCAGAAGCA	ENST00000310624.6	+	4	2074_2097	c.2041_2064delAAGTCCCCAGTGAAGGCAGAAGCA	c.(2041-2064)aagtccccagtgaaggcagaagcadel	p.KSPVKAEA681del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	687	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)	p.A686E(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTG	0.571																																					p.681_688del		.											.	NEFH-90	1	Substitution - Missense(1)	endometrium(1)	c.2041_2064del						.																																			SO:0001651	inframe_deletion	4744	exon4			AAGGCCAAGTCCC		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.2041_2064delAAGTCCCCAGTGAAGGCAGAAGCA	22.37:g.29885670_29885693delAAGTCCCCAGTGAAGGCAGAAGCA	ENSP00000311997:p.Lys681_Ala688del	Somatic	463	0		WXS	Illumina GAIIx	Phase_I	252	21	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.571	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		-	29885693	AAGTCCCCAGTGAAGGCAGAAGCA	-	29885670	7	5	26	1	0	1	0	1	0	0	0	0	10353	131	5	0	2055	0	NEFH	22	29885670	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGCAGAAGCA	TCGA-OR-A5K2-01A-11D-A29I-10	76	29885670	21418896	187	4547			4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
NEFH	4744	bcgsc.ca	37	chr22	29885722	29885722	+	Missense_Mutation	SNP	T	T	A													tgagaaggccaagtccccagTgaaggaagaagcaaagtccc							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885722T>A	ENST00000310624.6	+	4	2126	c.2093T>A	c.(2092-2094)gTg>gAg	p.V698E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	704	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						AAGTCCCCAGTGAAGGAAGAA	0.552																																					p.V698E		.											.	NEFH-90	0			c.T2093A						.						66	70	68					22																	29885722		2193	4274	6467	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGA		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.2093T>A	22.37:g.29885722T>A	ENSP00000311997:p.Val698Glu	Somatic	532	1		WXS	Illumina GAIIx	Phase_I	205	16	NM_021076	0	0	35	35	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	6.362	0.434952	0.12045	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82711	-1.64	4.37	-2.71	0.05986	.	0.514922	0.16469	N	0.213074	T	0.76983	0.4064	L	0.46614	1.455	0.09310	N	1	P	0.39282	0.666	P	0.44394	0.448	T	0.69815	-0.5043	10	0.87932	D	0	.	6.5863	0.22622	0.639:0.1533:0.0:0.2077	.	704	P12036	NFH_HUMAN	E	698	ENSP00000311997:V698E	ENSP00000311997:V698E	V	+	2	0	NEFH	28215722	0.000000	0.05858	0.056000	0.19401	0.172000	0.22775	-0.695000	0.05109	-0.993000	0.03467	-0.472000	0.04984	GTG	.		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		A	29885722	T	A	29885722	3	1	26	1	0	0	0	0	1	0	0	0	10353	1696	59	5	2107	5	NEFH	22	29885722	Missense_Mutation	SNP	T	TCGA-OR-A5K2-01A-11D-A29I-10	52	29885722	21418844	188	4548	36	3	4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
NEFH	4744	bcgsc.ca	37	chr22	29885732	29885732	+	Silent	SNP	A	A	G													aagtccccagtgaaggaagaAgcaaagtcccctgagaaggc							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885732A>G	ENST00000310624.6	+	4	2136	c.2103A>G	c.(2101-2103)gaA>gaG	p.E701E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	707	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						TGAAGGAAGAAGCAAAGTCCC	0.562																																					p.E701E		.											.	NEFH-90	0			c.A2103G						.						67	72	70					22																	29885732		2160	4233	6393	SO:0001819	synonymous_variant	4744	exon4			GGAAGAAGCAAAG		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.2103A>G	22.37:g.29885732A>G		Somatic	531	1		WXS	Illumina GAIIx	Phase_I	197	12	NM_021076	0	0	10	10	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885732	A	G	29885732	2	3	26	1	0	0	0	0	0	0	0	1	10353	69	3	4		4	NEFH	22	29885732	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	10	29885732	21418834	189	4549	36	3	4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
NEFH	4744	bcgsc.ca	37	chr22	29885735	29885735	+	Silent	SNP	A	A	C													tccccagtgaaggaagaagcAaagtcccctgagaaggccaa							TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:29885735A>C	ENST00000310624.6	+	4	2139	c.2106A>C	c.(2104-2106)gcA>gcC	p.A702A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	708	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						AGGAAGAAGCAAAGTCCCCTG	0.557																																					p.A702A		.											.	NEFH-90	0			c.A2106C						.						66	70	69					22																	29885735		2119	4173	6292	SO:0001819	synonymous_variant	4744	exon4			AGAAGCAAAGTCC		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.2106A>C	22.37:g.29885735A>C		Somatic	528	2		WXS	Illumina GAIIx	Phase_I	194	15	NM_021076	0	0	10	10	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		C	29885735	A	C	29885735	2	2	26	1	0	0	0	0	0	0	0	1	10353	117	5	5		5	NEFH	22	29885735	Silent	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	3	29885735	21418831	190	4550	36	3	4	22		6	4	172	N	T_AAGTCCCCAGTGAAGGCAGAAGCA_A	2.013611e-10
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	26	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5K2-01A-11D-A29I-10	8236727	38122462	13182104	191	4551											
ODF3B	440836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50969456	50969456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgatgacgcgcggaccCaagagcgagggcaccgtata	14	12	0	2			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chr22:50969456C>G	ENST00000428989.2	-	4	449	c.450G>C	c.(448-450)ttG>ttC	p.L150F	TYMP_ENST00000252029.3_5'Flank|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.L150F|ODF3B_ENST00000401779.1_Missense_Mutation_p.G127R|ODF3B_ENST00000403326.1_Missense_Mutation_p.L82F|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000405135.1_Missense_Mutation_p.G166R			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	150										lung(2)	2						CGCGCGGACCCAAGAGCGAGG	0.692																																					p.L150F		.											.	ODF3B-68	0			c.G450C						.						13	16	15					22																	50969456		1915	4114	6029	SO:0001583	missense	440836	exon5			CGGACCCAAGAGC		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.450G>C	22.37:g.50969456C>G	ENSP00000390712:p.Leu150Phe	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	169	65	NM_001014440	0	0	3	4	1	A0PK18	Missense_Mutation	SNP	ENST00000428989.2	37	CCDS43039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.95|10.95	1.496312|1.496312	0.26861|0.26861	.|.	.|.	ENSG00000177989|ENSG00000177989	ENST00000401779;ENST00000405135|ENST00000329363;ENST00000403326;ENST00000428989	T|T;T;T	0.49432|0.36878	0.78|1.23;1.28;1.23	4.69|4.69	2.42|2.42	0.29668|0.29668	.|.	.|.	.|.	.|.	.|.	T|T	0.27278|0.27278	0.0669|0.0669	L|L	0.45228|0.45228	1.405|1.405	0.30747|0.30747	N|N	0.745495|0.745495	P|B	0.35107|0.20052	0.484|0.041	B|B	0.33254|0.23419	0.16|0.046	T|T	0.22941|0.22941	-1.0202|-1.0202	9|9	0.87932|0.20046	D|T	0|0.44	-0.6009|-0.6009	6.9831|6.9831	0.24713|0.24713	0.1868:0.6058:0.2075:0.0|0.1868:0.6058:0.2075:0.0	.|.	127|150	B5MD02|A8MYP8	.|ODF3B_HUMAN	R|F	127;166|150;82;150	ENSP00000384012:G166R|ENSP00000382804:L150F;ENSP00000385123:L82F;ENSP00000390712:L150F	ENSP00000384310:G127R|ENSP00000382804:L150F	G|L	-|-	1|3	0|2	ODF3B|ODF3B	49316322|49316322	0.983000|0.983000	0.35010|0.35010	0.883000|0.883000	0.34634|0.34634	0.209000|0.209000	0.24338|0.24338	0.416000|0.416000	0.21198|0.21198	1.159000|1.159000	0.42565|0.42565	0.462000|0.462000	0.41574|0.41574	GGG|TTG	.		0.692	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			G	50969456	C	G	50969456	3	3	26	1	0	0	0	0	1	0	0	0	10869	593	21	3	323	3	ODF3B	22	50969456	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	12846994	50969456	335110	192	4552											
SFRS17A	8227	hgsc.bcm.edu	37	chrX	1720322	1720322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggcgcagcacgagcccGgaccacacccggtcccggag	14	19	0	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:1720322G>A	ENST00000313871.3	+	5	2119	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	641	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCACGAGCCCGGACCACACCC	0.731													g|||	19	0.00379393	8e-04	0.0029	5008	,	,		12797	0		0.0129	False		,,,				2504	0.0031				p.P641P		.											.	AKAP17A-40	0			c.G1923A						.		,	16,4318		0,16,2151	13	21	18		,1923	-2.8	0.3	X	dbSNP_134	18	167,8337		1,165,4086	no	intron,coding-synonymous	ASMT,AKAP17A	NM_004043.2,NM_005088.2	,	1,181,6237	AA,AG,GG		1.9638,0.3692,1.4255	,	,641/696	1720322	183,12655	2167	4252	6419	SO:0001819	synonymous_variant	8227	exon5			GAGCCCGGACCAC	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1923G>A	X.37:g.1720322G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	20	14	NM_005088	0	0	3	12	9	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	CCDS14116.1																																																																																			G|0.992;A|0.008		0.731	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		A	1720322	G	A	1720322	2	1	26	1	0	0	0	0	0	0	0	1	14218	1103	39	1		1	SFRS17A	23	1720322	Silent	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10		1720322	153550238	193	4553											
STS	412	broad.mit.edu;bcgsc.ca	37	chrX	7252144	7252144	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgtgcgctggcaccctcaGaacagtgagtaaacagacct	11	12	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:7252144G>C	ENST00000217961.4	+	9	1594	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	458					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)	GGCACCCTCAGAACAGTGAGT	0.478									Ichthyosis																												p.Q458H		.											.	STS-130	0			c.G1374C						.						130	112	118					X																	7252144		2203	4299	6502	SO:0001583	missense	412	exon9	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCCTCAGAACAGT	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.1374G>C	X.37:g.7252144G>C	ENSP00000217961:p.Gln458His	Somatic	204	1		WXS	Illumina GAIIx	Phase_I	356	10	NM_000351	0	0	0	0	0	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	7.255	0.603946	0.14002	.	.	ENSG00000101846	ENST00000217961	D	0.93547	-3.24	3.95	-7.31	0.01441	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.580150	0.03872	N	0.275696	T	0.81763	0.4891	N	0.03115	-0.41	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.73525	-0.3955	10	0.59425	D	0.04	.	7.6432	0.28305	0.3717:0.5133:0.115:0.0	.	458	P08842	STS_HUMAN	H	458	ENSP00000217961:Q458H	ENSP00000217961:Q458H	Q	+	3	2	STS	7262144	0.000000	0.05858	0.001000	0.08648	0.546000	0.35178	-1.391000	0.02525	-2.117000	0.00829	-1.211000	0.01629	CAG	.		0.478	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		C	7252144	G	C	7252144	3	2	26	1	0	0	0	0	1	0	0	0	15379	933	33	3	1408	3	STS	23	7252144	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	5531822	7252144	148018416	194	4554											
DCAF8L2	347442	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	27765556	27765556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcagagacatctgccCtgccccgacctcgctggcag	9	17	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:27765556C>A	ENST00000451261.2	+	5	943	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	182										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GACATCTGCCCTGCCCCGACC	0.612																																					p.L182M		.											.	DCAF8L2-42	0			c.C544A						.						53	47	49					X																	27765556		692	1591	2283	SO:0001583	missense	347442	exon1			TCTGCCCTGCCCC		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.544C>A	X.37:g.27765556C>A	ENSP00000462745:p.Leu182Met	Somatic	320	1		WXS	Illumina GAIIx	Phase_I	476	29	NM_001136533	0	0	0	0	0	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.		0.612	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765556	C	A	27765556	3	1	26	1	0	0	0	0	1	0	0	0	4287	680	24	3	546	3	DCAF8L2	23	27765556	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	20513412	27765556	127505004	195	4555											
GATA1	2623	broad.mit.edu;bcgsc.ca	37	chrX	48652250	48652250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtattcagactcgaaaccgCaaggcatctggaaaagggaa	12	8	2	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:48652250C>T	ENST00000376670.3	+	6	1032	c.921C>T	c.(919-921)cgC>cgT	p.R307R	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	307					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CTCGAAACCGCAAGGCATCTG	0.587			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																p.R307R	Pancreas(9;429 505 11287 29617)	.		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	GATA1-1315	0			c.C921T						.						30	28	28					X																	48652250		2203	4298	6501	SO:0001819	synonymous_variant	2623	exon6			AAACCGCAAGGCA	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.921C>T	X.37:g.48652250C>T		Somatic	173	1		WXS	Illumina GAIIx	Phase_I	224	7	NM_002049	0	0	0	0	0	Q96GB8	Silent	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	c	9.466	1.094494	0.20471	.	.	ENSG00000102145	ENST00000447551	.	.	.	3.94	3.02	0.34903	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54098	-0.8344	4	.	.	.	-7.541	8.3582	0.32342	0.3878:0.6122:0.0:0.0	.	.	.	.	V	72	.	.	A	+	2	0	GATA1	48537194	0.929000	0.31497	1.000000	0.80357	0.946000	0.59487	0.032000	0.13732	1.812000	0.52913	0.365000	0.22127	GCA	.		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		T	48652250	C	T	48652250	2	4	26	1	0	0	0	0	0	0	0	1	6278	697	25	3		3	GATA1	23	48652250	Silent	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	20886694	48652250	106618310	196	4556											
DGAT2L6	347516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	69424885	69424885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcactctacatcagtgccCtgcgcaagctctttgaccaa	7	15	3	1			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:69424885C>A	ENST00000333026.3	+	7	1043	c.943C>A	c.(943-945)Ctg>Atg	p.L315M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	315					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCAGTGCCCTGCGCAAGCT	0.468																																					p.L315M		.											.	DGAT2L6-131	0			c.C943A						.						91	71	78					X																	69424885		2203	4300	6503	SO:0001583	missense	347516	exon7			AGTGCCCTGCGCA	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.943C>A	X.37:g.69424885C>A	ENSP00000328036:p.Leu315Met	Somatic	179	1		WXS	Illumina GAIIx	Phase_I	264	38	NM_198512	0	0	0	0	0	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016849	0.54576	.	.	ENSG00000184210	ENST00000333026	D	0.93604	-3.25	4.74	2.97	0.34412	.	0.000000	0.51477	D	0.000089	D	0.96999	0.9020	H	0.94658	3.565	0.50632	D	0.999886	D	0.89917	1.0	D	0.87578	0.998	D	0.95660	0.8714	10	0.87932	D	0	-13.5109	8.0147	0.30374	0.0:0.7955:0.0:0.2045	.	315	Q6ZPD8	DG2L6_HUMAN	M	315	ENSP00000328036:L315M	ENSP00000328036:L315M	L	+	1	2	DGAT2L6	69341610	0.738000	0.28186	0.849000	0.33467	0.599000	0.36880	1.150000	0.31639	0.445000	0.26639	0.600000	0.82982	CTG	.		0.468	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		A	69424885	C	A	69424885	3	1	26	1	0	0	0	0	1	0	0	0	4473	680	24	3	969	3	DGAT2L6	23	69424885	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	20772635	69424885	85845675	197	4557											
RPS6KA6	27330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	83372103	83372103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattccttttgaataacatcCttagaagactttgtgcttca	6	8	1	3			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:83372103C>A	ENST00000262752.2	-	11	921	c.914G>T	c.(913-915)aGg>aTg	p.R305M	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R305M	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	305	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAATAACATCCTTAGAAGACT	0.323																																					p.R305M		.											.	RPS6KA6-615	0			c.G914T						.						52	49	50					X																	83372103		2200	4297	6497	SO:0001583	missense	27330	exon11			AACATCCTTAGAA	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.914G>T	X.37:g.83372103C>A	ENSP00000262752:p.Arg305Met	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	163	52	NM_014496	0	0	0	0	0	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262029	0.80358	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.54071	0.59;0.59	4.79	4.79	0.61399	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	0.55909	0.1950	L	0.46819	1.47	0.80722	D	1	P;P	0.34615	0.459;0.459	B;B	0.42625	0.369;0.393	T	0.61554	-0.7039	10	0.72032	D	0.01	.	17.3025	0.87186	0.0:1.0:0.0:0.0	.	305;305	B7ZL90;Q9UK32	.;KS6A6_HUMAN	M	305	ENSP00000262752:R305M;ENSP00000440830:R305M	ENSP00000262752:R305M	R	-	2	0	RPS6KA6	83258759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.552000	0.82192	2.097000	0.63578	0.600000	0.82982	AGG	.		0.323	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		A	83372103	C	A	83372103	3	1	26	1	0	0	0	0	1	0	0	0	13700	681	24	3	1371	3	RPS6KA6	23	83372103	Missense_Mutation	SNP	C	TCGA-OR-A5K2-01A-11D-A29I-10	13947218	83372103	71898457	198	4558											
PLXNB3	5365	hgsc.bcm.edu;mdanderson.org	37	chrX	153032899	153032899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccacccctggccatccGccagctggccgggtctcagc	13	18	1	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:153032899G>A	ENST00000361971.5	+	3	731	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R229H|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	206	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					CTGGCCATCCGCCAGCTGGCC	0.711																																					p.R229H		.											.	PLXNB3-130	0			c.G686A						.						11	10	10					X																	153032899		2165	4252	6417	SO:0001583	missense	5365	exon4			CCATCCGCCAGCT	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.617G>A	X.37:g.153032899G>A	ENSP00000355378:p.Arg206His	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	45	17	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241086	0.79912	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.59364	0.27;0.27	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	3.024290	0.01515	N	0.018102	D	0.83681	0.5307	M	0.89095	3.005	0.44595	D	0.997567	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.66842	-0.5821	10	0.87932	D	0	.	15.7471	0.77955	0.0:0.0:1.0:0.0	.	229;206	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	229;206	ENSP00000442736:R229H;ENSP00000355378:R206H	ENSP00000355378:R206H	R	+	2	0	PLXNB3	152686093	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	6.917000	0.75782	1.961000	0.56991	0.468000	0.43344	CGC	.		0.711	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153032899	G	A	153032899	3	1	26	1	0	0	0	0	1	0	0	0	12164	1087	38	1	741	1	PLXNB3	23	153032899	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	69660796	153032899	2237661	199	4559											
ARHGAP4	393	broad.mit.edu	37	chrX	153187251	153187251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagctgctcgctcagctGccagcgcatctctgtggggg	15	14	2	0			TCGA-OR-A5K2-01A-11D-A29I-10	TCGA-OR-A5K2-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66aec7c2-3fce-47b6-939c-a8593e81b426	f1b3d772-79b9-406b-aa04-27a086489524	g.chrX:153187251G>T	ENST00000350060.5	-	2	120	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q4K	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	27	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCTCAGCTGCCAGCGCATC	0.692																																					p.Q27K		.											.	ARHGAP4-227	0			c.C79A						.																																			SO:0001583	missense	393	exon2			TCAGCTGCCAGCG	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.79C>A	X.37:g.153187251G>T	ENSP00000203786:p.Gln27Lys	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_001666	0	0	0	0	0	Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033601	0.93575	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.43294	2.28;0.95;0.95;0.95;0.95;0.95;0.95	4.95	4.95	0.65309	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.42053	D	0.000776	T	0.64316	0.2587	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.67741	-0.5592	10	0.59425	D	0.04	.	16.3521	0.83215	0.0:0.0:1.0:0.0	.	27;27	Q86UY3;P98171	.;RHG04_HUMAN	K	27;27;27;27;4;4;4	ENSP00000377322:Q27K;ENSP00000359045:Q27K;ENSP00000203786:Q27K;ENSP00000359033:Q27K;ENSP00000444169:Q4K;ENSP00000398259:Q4K;ENSP00000413782:Q4K	ENSP00000203786:Q27K	Q	-	1	0	ARHGAP4	152840445	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.397000	0.79903	2.203000	0.70933	0.436000	0.28706	CAG	.		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		T	153187251	G	T	153187251	3	4	26	1	0	0	0	0	1	0	0	0	885	1328	46	3	2969	3	ARHGAP4	23	153187251	Missense_Mutation	SNP	G	TCGA-OR-A5K2-01A-11D-A29I-10	154352	153187251	2083309	200	4560											
SKI	6497	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	2235335	2235335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacgtggccctcgcacCgccggcccagcagaaggttg	13	17	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:2235335C>T	ENST00000378536.4	+	4	1340	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	423					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCCTCGCACCGCCGGCCCAG	0.692																																					p.P423L	Ovarian(177;144 1678 13697 20086 27838 40755)	.											.	SKI-838	0			c.C1268T						.						13	17	16					1																	2235335		2173	4274	6447	SO:0001583	missense	6497	exon4			TCGCACCGCCGGC	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1268C>T	1.37:g.2235335C>T	ENSP00000367797:p.Pro423Leu	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	95	86	NM_003036	0	0	2	8	6	Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023233	0.93462	.	.	ENSG00000157933	ENST00000378536	D	0.96011	-3.88	4.61	4.61	0.57282	.	0.058905	0.64402	D	0.000002	D	0.96463	0.8846	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	D	0.96644	0.9476	10	0.54805	T	0.06	-18.8991	16.7915	0.85590	0.0:1.0:0.0:0.0	.	423	P12755	SKI_HUMAN	L	423	ENSP00000367797:P423L	ENSP00000367797:P423L	P	+	2	0	SKI	2225195	1.000000	0.71417	0.144000	0.22314	0.742000	0.42306	7.216000	0.77974	2.264000	0.75181	0.561000	0.74099	CCG	.		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		T	2235335	C	T	2235335	3	4	27	1	0	0	0	0	1	0	0	0	14402	652	23	1	1282	1	SKI	1	2235335	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		2235335	247015286	1	4561											
PRDM16	63976	hgsc.bcm.edu	37	chr1	3329263	3329263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggggaacgcaagctgggCgccggcgaggggctgcccca	18	12	0	0	rs115226069	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:3329263C>T	ENST00000270722.5	+	9	2551	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PRDM16_ENST00000442529.2_Silent_p.G834G|PRDM16_ENST00000441472.2_Silent_p.G834G|PRDM16_ENST00000378391.2_Silent_p.G834G|PRDM16_ENST00000511072.1_Silent_p.G835G|PRDM16_ENST00000514189.1_Silent_p.G835G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.G835G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	834	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCAAGCTGGGCGCCGGCGAGG	0.716			T	EVI1	"MDS, AML"								C|||	269	0.0537141	0.1271	0.013	5008	,	,		11401	0.0089		0.0119	False		,,,				2504	0.0726				p.G834G		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16-660	0			c.C2502T						.	C	,	303,3017		7,289,1364	5	8	7		2502,2502	-5.2	0	1	dbSNP_132	7	113,7173		0,113,3530	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	7,402,4894	TT,TC,CC		1.5509,9.1265,3.9223	,	834/1277,834/1258	3329263	416,10190	1660	3643	5303	SO:0001819	synonymous_variant	63976	exon9			GCTGGGCGCCGGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2502C>T	1.37:g.3329263C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	28	NM_022114	0	0	0	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			C|0.969;T|0.031		0.716	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3329263	C	T	3329263	2	4	27	1	0	0	0	0	0	0	0	1	12499	755	27	1		1	PRDM16	1	3329263	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1093928	3329263	245921358	2	4562											
PTCHD2	57540	broad.mit.edu;bcgsc.ca	37	chr1	11589895	11589895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacccctgcgtgaacaCgggctgcgggaagccggcgg	15	14	1	1	rs201439934	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:11589895C>T	ENST00000294484.6	+	15	3119	c.2981C>T	c.(2980-2982)aCg>aTg	p.T994M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T994M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	994					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)		TGCGTGAACACGGGCTGCGGG	0.637													C|||	6	0.00119808	0	0.0014	5008	,	,		16957	0		0	False		,,,				2504	0.0051				p.T994M		.											.	PTCHD2-209	0			c.C2981T						.	C	MET/THR	0,3970		0,0,1985	60	71	67		2981	5	1	1		67	2,8294		0,2,4146	yes	missense	PTCHD2	NM_020780.1	81	0,2,6131	TT,TC,CC		0.0241,0.0,0.0163	benign	994/1393	11589895	2,12264	1985	4148	6133	SO:0001583	missense	57540	exon15			TGAACACGGGCTG	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.2981C>T	1.37:g.11589895C>T	ENSP00000294484:p.Thr994Met	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	145	7	NM_020780	0	0	0	0	0	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489329	0.26686	0.0	2.41E-4	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90133	-2.62;-2.62	4.97	4.97	0.65823	.	0.224806	0.37219	N	0.002190	T	0.77928	0.4204	N	0.08118	0	0.35268	D	0.780215	B	0.31968	0.349	B	0.15870	0.014	T	0.82542	-0.0405	10	0.51188	T	0.08	-17.3543	11.0104	0.47659	0.0:0.9105:0.0:0.0895	.	994	Q9P2K9	PTHD2_HUMAN	M	994	ENSP00000294484:T994M;ENSP00000374226:T994M	ENSP00000294484:T994M	T	+	2	0	PTCHD2	11512482	0.674000	0.27549	0.958000	0.39756	0.544000	0.35116	2.372000	0.44257	2.304000	0.77564	0.561000	0.74099	ACG	C|0.999;T|0.001		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11589895	C	T	11589895	3	4	27	1	0	0	0	0	1	0	0	0	12775	536	19	1	3035	1	PTCHD2	1	11589895	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	8260632	11589895	237660726	3	4563											
FBXO6	26270	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11728807	11728807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacgcacgtgcccgcccGccagctgctgctgaactgcc	11	18	1	1	rs146139993		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:11728807G>A	ENST00000376753.4	+	2	227	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	31	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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)		GTGCCCGCCCGCCAGCTGCTG	0.632													.|||	1	0.000199681	0	0	5008	,	,		17702	0		0	False		,,,				2504	0.001				p.R31H	NSCLC(54;506 1562 46490 51389)	.											.	FBXO6-226	0			c.G92A						.	G	HIS/ARG	0,4406		0,0,2203	36	41	39		92	2.2	0.9	1	dbSNP_134	39	2,8590	2.2+/-6.3	0,2,4294	no	missense	FBXO6	NM_018438.5	29	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	31/294	11728807	2,12996	2203	4296	6499	SO:0001583	missense	26270	exon2			CCGCCCGCCAGCT	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.92G>A	1.37:g.11728807G>A	ENSP00000365944:p.Arg31His	Somatic	201	2		WXS	Illumina GAIIx	Phase_I	164	143	NM_018438	0	0	31	45	14	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	CCDS133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.151|8.151	0.787461|0.787461	0.16258|0.16258	0.0|0.0	2.33E-4|2.33E-4	ENSG00000116663|ENSG00000116663	ENST00000449067|ENST00000376753	.|T	.|0.45276	.|0.9	5.15|5.15	2.2|2.2	0.27929|0.27929	.|F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	.|0.434175	.|0.26959	.|N	.|0.021630	T|T	0.38427|0.38427	0.1040|0.1040	M|M	0.74647|0.74647	2.275|2.275	0.32950|0.32950	D|D	0.519642|0.519642	.|P	.|0.39157	.|0.662	.|B	.|0.37888	.|0.26	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.37606	.|T	.|0.19	-11.0719|-11.0719	6.1893|6.1893	0.20516|0.20516	0.1721:0.1589:0.669:0.0|0.1721:0.1589:0.669:0.0	.|.	.|31	.|Q9NRD1	.|FBX6_HUMAN	T|H	19|31	.|ENSP00000365944:R31H	.|ENSP00000365944:R31H	A|R	+|+	1|2	0|0	FBXO6|FBXO6	11651394|11651394	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.098000|0.098000	0.18820|0.18820	2.715000|2.715000	0.47210|0.47210	0.268000|0.268000	0.21939|0.21939	-0.142000|-0.142000	0.14014|0.14014	GCC|CGC	G|1.000;A|0.000		0.632	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		A	11728807	G	A	11728807	3	1	27	1	0	0	0	0	1	0	0	0	5781	1087	38	1	94	1	FBXO6	1	11728807	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	138912	11728807	237521814	4	4564											
MFN2	9927	broad.mit.edu	37	chr1	12069759	12069759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgaggttcttgactcacTtcagagcaaagcaaagctgc	9	9	3	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:12069759T>C	ENST00000235329.5	+	18	2502	c.2180T>C	c.(2179-2181)cTt>cCt	p.L727P	MFN2_ENST00000444836.1_Missense_Mutation_p.L727P	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	727					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTTGACTCACTTCAGAGCAAA	0.572																																					p.L727P		.											.	MFN2-91	0			c.T2180C						.						71	71	71					1																	12069759		2203	4300	6503	SO:0001583	missense	9927	exon18			ACTCACTTCAGAG	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2180T>C	1.37:g.12069759T>C	ENSP00000235329:p.Leu727Pro	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	93	3	NM_014874	0	0	45	45	0	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447694	0.84101	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.96885	-4.16;-4.16	5.55	5.55	0.83447	Fzo/mitofusin HR2 domain (1);	0.000000	0.64402	D	0.000001	D	0.96741	0.8936	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	D	0.97089	0.9789	10	0.56958	D	0.05	-17.9384	15.0317	0.71713	0.0:0.0:0.0:1.0	.	727	O95140	MFN2_HUMAN	P	727	ENSP00000416338:L727P;ENSP00000235329:L727P	ENSP00000235329:L727P	L	+	2	0	MFN2	11992346	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.525000	0.81892	2.333000	0.79357	0.533000	0.62120	CTT	.		0.572	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		C	12069759	T	C	12069759	3	2	27	1	0	0	0	0	1	0	0	0	9562	1609	56	4	2242	4	MFN2	1	12069759	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	340952	12069759	237180862	5	4565											
CASP9	842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	15820441	15820441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactgctcaaagatgtcGtccagggtctcaacgtacca	9	14	2	1	rs149161953		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:15820441G>A	ENST00000333868.5	-	8	1198	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	CASP9_ENST00000348549.5_Silent_p.D218D|CASP9_ENST00000546424.1_Silent_p.D368D|CASP9_ENST00000375890.4_Silent_p.D285D	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	368					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CAAAGATGTCGTCCAGGGTCT	0.597													G|||	1	0.000199681	0	0	5008	,	,		17884	0.001		0	False		,,,				2504	0				p.D368D		.											.	CASP9-1083	0			c.C1104T						.						72	53	60					1																	15820441		2203	4300	6503	SO:0001819	synonymous_variant	842	exon8			GATGTCGTCCAGG	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.1104C>T	1.37:g.15820441G>A		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	47	42	NM_001229	0	0	1	10	9	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Silent	SNP	ENST00000333868.5	37	CCDS158.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.024	-1.387722	0.01194	.	.	ENSG00000132906	ENST00000424908	.	.	.	5.7	-2.64	0.06114	.	.	.	.	.	.	.	.	.	.	.	0.33981	D	0.647932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.361	0.49644	0.6271:0.0:0.3729:0.0	.	.	.	.	X	150	.	.	R	-	1	2	CASP9	15693028	0.001000	0.12720	0.021000	0.16686	0.041000	0.13682	-0.321000	0.08018	-0.356000	0.08187	-0.136000	0.14681	CGA	G|0.999;A|0.000		0.597	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		A	15820441	G	A	15820441	2	1	27	1	0	0	0	0	0	0	0	1	2686	1136	40	1		1	CASP9	1	15820441	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3750682	15820441	233430180	6	4566											
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	19479813	19479813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgattgtagctgttttgcGctttcgaacaggcttcatga	10	8	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:19479813G>A	ENST00000375254.3	-	46	6841	c.6814C>T	c.(6814-6816)Cgc>Tgc	p.R2272C	UBR4_ENST00000375217.2_Missense_Mutation_p.R2272C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2272C|UBR4_ENST00000375267.2_Missense_Mutation_p.R2272C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2272					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGTTTTGCGCTTTCGAACA	0.502																																					p.R2272C		.											.	UBR4-612	0			c.C6814T						.						150	124	133					1																	19479813		2203	4300	6503	SO:0001583	missense	23352	exon46			TTTTGCGCTTTCG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6814C>T	1.37:g.19479813G>A	ENSP00000364403:p.Arg2272Cys	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	106	99	NM_020765	0	0	0	2	2	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847887	0.91277	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.74023	0.9;0.982	T	0.05131	-1.0904	10	0.87932	D	0	.	18.78	0.91928	0.0:0.0:1.0:0.0	.	2273;2272	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	C	2272;2272;2272;2272;982;1489	ENSP00000364403:R2272C;ENSP00000364416:R2272C;ENSP00000364365:R2272C;ENSP00000364374:R2272C;ENSP00000404897:R982C	ENSP00000364365:R2272C	R	-	1	0	UBR4	19352400	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.019000	0.93662	2.672000	0.90937	0.591000	0.81541	CGC	.		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19479813	G	A	19479813	3	1	27	1	0	0	0	0	1	0	0	0	16953	1087	38	1	8981	1	UBR4	1	19479813	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3659372	19479813	229770808	7	4567											
WNT4	54361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	22446583	22446583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgagccgctggcactgcCggcacttgacgaagcagcac	12	16	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:22446583C>T	ENST00000290167.6	-	5	1059	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	WNT4_ENST00000542383.1_Missense_Mutation_p.R284Q	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	339					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTGGCACTGCCGGCACTTGAC	0.637																																					p.R339Q		.											.	WNT4-524	0			c.G1016A						.						34	33	33					1																	22446583		2203	4300	6503	SO:0001583	missense	54361	exon5			CACTGCCGGCACT	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.1016G>A	1.37:g.22446583C>T	ENSP00000290167:p.Arg339Gln	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	85	78	NM_030761	0	0	0	0	0	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	CCDS223.1	.	.	.	.	.	.	.	.	.	.	c	5.859	0.342641	0.11069	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.75154	-0.91;-0.91	4.16	4.16	0.48862	.	0.118609	0.53938	D	0.000055	T	0.41305	0.1153	N	0.01219	-0.95	0.34214	D	0.67465	B	0.13145	0.007	B	0.09377	0.004	T	0.48581	-0.9023	10	0.25106	T	0.35	.	6.5041	0.22186	0.0:0.8001:0.0:0.1999	.	339	P56705	WNT4_HUMAN	Q	339;284	ENSP00000290167:R339Q;ENSP00000441033:R284Q	ENSP00000290167:R339Q	R	-	2	0	WNT4	22319170	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.975000	0.56859	2.312000	0.78011	0.450000	0.29827	CGG	.		0.637	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			T	22446583	C	T	22446583	3	4	27	1	0	0	0	0	1	0	0	0	17439	652	23	1	43	1	WNT4	1	22446583	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2966770	22446583	226804038	8	4568											
PIGV	55650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27121404	27121404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcagagggaaatgaaccGccttggtgcttctgggatgt	14	7	1	2	rs147229452	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:27121404G>A	ENST00000374145.1	+	3	1561	c.879G>A	c.(877-879)ccG>ccA	p.P293P	PIGV_ENST00000078527.4_Silent_p.P293P|PIGV_ENST00000449950.2_Silent_p.P65P	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	293					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GAAATGAACCGCCTTGGTGCT	0.498													g|||	3	0.000599042	0.0023	0	5008	,	,		21025	0		0	False		,,,				2504	0				p.P293P		.											.	PIGV-91	0			c.G879A						.		,	2,4404	6.2+/-15.9	0,2,2201	218	224	222		879,879	-10.6	0.1	1	dbSNP_134	222	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PIGV	NM_001202554.1,NM_017837.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	293/494,293/494	27121404	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55650	exon3			TGAACCGCCTTGG	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.879G>A	1.37:g.27121404G>A		Somatic	213	0		WXS	Illumina GAIIx	Phase_I	181	167	NM_001202554	0	1	0	10	9	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	CCDS287.1																																																																																			G|1.000;A|0.000		0.498	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		A	27121404	G	A	27121404	2	1	27	1	0	0	0	0	0	0	0	1	11940	1074	38	1		1	PIGV	1	27121404	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4674821	27121404	222129217	9	4569											
WASF2	10163	broad.mit.edu;bcgsc.ca	37	chr1	27736229	27736229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctacgggcatcgctcacGgcaggcaaggaggacttggg	16	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:27736229G>A	ENST00000430629.2	-	8	1511	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	432					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)		CATCGCTCACGGCAGGCAAGG	0.582																																					p.A432A		.											.	WASF2-228	0			c.C1296T						.						81	77	78					1																	27736229		2203	4300	6503	SO:0001819	synonymous_variant	10163	exon8			GCTCACGGCAGGC	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.1296C>T	1.37:g.27736229G>A		Somatic	337	0		WXS	Illumina GAIIx	Phase_I	176	7	NM_006990	0	0	38	39	1	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																			.		0.582	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		A	27736229	G	A	27736229	2	1	27	1	0	0	0	0	0	0	0	1	17302	1103	39	1		1	WASF2	1	27736229	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	614825	27736229	221514392	10	4570											
EIF3I	8668	broad.mit.edu	37	chr1	32694136	32694136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgttaaggagcactccCggcagatcaacgacatccag	10	11	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:32694136C>T	ENST00000373586.1	+	7	637	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GGAGCACTCCCGGCAGATCAA	0.542																																					p.R189W	Colon(102;1138 2140 2180 17876)	.											.	EIF3I-69	0			c.C565T						.						154	132	140					1																	32694136		2203	4300	6503	SO:0001583	missense	8668	exon7			CACTCCCGGCAGA	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"WD repeat domain containing"	3272	protein-coding gene	gene with protein product		603911	"eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.565C>T	1.37:g.32694136C>T	ENSP00000362688:p.Arg189Trp	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	137	4	NM_003757	0	0	219	219	0		Missense_Mutation	SNP	ENST00000373586.1	37	CCDS357.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644066	0.67244	.	.	ENSG00000084623	ENST00000373586	T	0.60672	0.17	4.51	2.47	0.30058	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100261	0.64402	D	0.000008	T	0.56016	0.1957	L	0.43598	1.365	0.38840	D	0.956036	P	0.38300	0.626	P	0.49140	0.601	T	0.59369	-0.7467	10	0.66056	D	0.02	-21.0433	7.1508	0.25610	0.3026:0.5986:0.0:0.0989	.	189	Q13347	EIF3I_HUMAN	W	189	ENSP00000362688:R189W	ENSP00000362688:R189W	R	+	1	2	EIF3I	32466723	0.999000	0.42202	0.995000	0.50966	0.977000	0.68977	2.853000	0.48317	1.025000	0.39708	0.462000	0.41574	CGG	.		0.542	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757		T	32694136	C	T	32694136	3	4	27	1	0	0	0	0	1	0	0	0	5035	643	23	1	591	1	EIF3I	1	32694136	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4957907	32694136	216556485	11	4571											
HDAC1	3065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32792571	32792571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttaataagcagcagacGgacatcgctgtgaattgggc	11	8	0	2	rs571782325		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:32792571G>A	ENST00000373548.3	+	5	471	c.387G>A	c.(385-387)acG>acA	p.T129T	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	129	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|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)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|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)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AGCAGCAGACGGACATCGCTG	0.517																																					p.T129T		.											.	HDAC1-659	0			c.G387A						.						111	102	105					1																	32792571		2203	4300	6503	SO:0001819	synonymous_variant	3065	exon5			GCAGACGGACATC	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.387G>A	1.37:g.32792571G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	76	68	NM_004964	0	0	1	84	83	Q92534	Silent	SNP	ENST00000373548.3	37	CCDS360.1																																																																																			.		0.517	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		A	32792571	G	A	32792571	2	1	27	1	0	0	0	0	0	0	0	1	7031	1103	39	1		1	HDAC1	1	32792571	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	98435	32792571	216458050	12	4572											
EIF2C3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36437637	36437637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaacaggtagatttagacGttactttacctggggaaggt	11	6	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:36437637G>A	ENST00000373191.4	+	4	674	c.325G>A	c.(325-327)Gtt>Att	p.V109I	AGO3_ENST00000324350.5_Missense_Mutation_p.V109I|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000397828.2_Missense_Mutation_p.V109I	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	109					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)										AGATTTAGACGTTACTTTACC	0.358																																					p.V109I		.											.	.	0			c.G325A						.						89	82	85					1																	36437637		2203	4300	6503	SO:0001583	missense	192669	exon4			TTAGACGTTACTT	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.325G>A	1.37:g.36437637G>A	ENSP00000362287:p.Val109Ile	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	124	111	NM_024852	0	0	0	0	0	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039538	0.93630	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.10288	2.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.46885	1.475	0.80722	D	1	B;P	0.44241	0.291;0.829	B;B	0.37508	0.086;0.252	T	0.04115	-1.0976	10	0.36615	T	0.2	-9.1634	19.3404	0.94339	0.0:0.0:1.0:0.0	.	109;109	Q9H9G7;Q5TA56	AGO3_HUMAN;.	I	109	ENSP00000362287:V109I	ENSP00000317425:V109I	V	+	1	0	EIF2C3	36210224	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.631000	0.89168	0.467000	0.42956	GTT	.		0.358	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36437637	G	A	36437637	3	1	27	1	0	0	0	0	1	0	0	0	5021	1145	40	1	339	1	EIF2C3	1	36437637	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3645066	36437637	212812984	13	4573											
SMAP2	64744	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	40872411	40872411	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgactttcacagggcCgcgatgggcctcttggaaca	12	12	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:40872411C>T	ENST00000539317.1	+	0	60					NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TTCACAGGGCCGCGATGGGCC	0.433																																					p.P36L		.											.	SMAP2-68	0			c.C107T						.						78	79	79					1																	40872411		2203	4300	6503	SO:0001623	5_prime_UTR_variant	64744	exon2			CAGGGCCGCGATG	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.-134C>T	1.37:g.40872411C>T		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	64	62	NM_022733	0	0	0	0	0	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391838	0.95988	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708	T;T	0.69306	-0.39;-0.39	6.06	6.06	0.98353	.	0.045333	0.85682	D	0.000000	D	0.89543	0.6745	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92832	0.6281	10	0.87932	D	0	-10.9891	18.1147	0.89549	0.0:1.0:0.0:0.0	.	6;36	Q8WU79-2;Q8WU79	.;SMAP2_HUMAN	L	36;36;6	ENSP00000361803:P36L;ENSP00000361793:P6L	ENSP00000361793:P6L	P	+	2	0	SMAP2	40644998	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCG	.		0.433	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		T	40872411	C	T	40872411	1	4	27	0	1	0	0	0	0	0	0	0	14812	652	23	1		1	SMAP2	1	40872411	5'UTR	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4434774	40872411	208378210	14	4574											
CDC20	991	bcgsc.ca	37	chr1	43826794	43826794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttattccatctaggccGtagcatggtgtccctggcag	10	12	1	0	rs1801456	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:43826794G>A	ENST00000372462.1	+	8	1284	c.1081G>A	c.(1081-1083)Gta>Ata	p.V361I	ELOVL1_ENST00000470769.1_5'Flank|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.V361I			Q12834	CDC20_HUMAN	cell division cycle 20	361					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|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 cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTAGGCCGTAGCATGGTG	0.557													G|||	23	0.00459265	0	0.0014	5008	,	,		20763	0		0.004	False		,,,				2504	0.0184				p.V361I	Esophageal Squamous(137;1154 1759 10362 10401 46925)	.											.	CDC20-227	0			c.G1081A						.	G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	74	68	70		1081	5.6	1	1	dbSNP_89	70	72,8528	42.2+/-99.7	0,72,4228	yes	missense	CDC20	NM_001255.2	29	0,81,6422	AA,AG,GG		0.8372,0.2043,0.6228	benign	361/500	43826794	81,12925	2203	4300	6503	SO:0001583	missense	991	exon9			TAGGCCGTAGCAT	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1081G>A	1.37:g.43826794G>A	ENSP00000361540:p.Val361Ile	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	72	6	NM_001255	0	0	0	0	0	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	G	14.00	2.404364	0.42613	0.002043	0.008372	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.61040	0.14;0.14	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056219	0.64402	D	0.000001	T	0.39091	0.1065	N	0.21508	0.67	0.51482	D	0.999924	B	0.29232	0.238	B	0.28784	0.094	T	0.29027	-1.0025	10	0.31617	T	0.26	-9.4945	19.6871	0.95984	0.0:0.0:1.0:0.0	rs1801456;rs41269543	361	Q12834	CDC20_HUMAN	I	337;361;361	ENSP00000308450:V361I;ENSP00000361540:V361I	ENSP00000308450:V361I	V	+	1	0	CDC20	43599381	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.838000	0.48199	2.663000	0.90544	0.561000	0.74099	GTA	G|0.996;A|0.004		0.557	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		A	43826794	G	A	43826794	3	1	27	1	0	0	0	0	1	0	0	0	3066	1145	40	1	1111	1	CDC20	1	43826794	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2954383	43826794	205423827	15	4575											
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	44057523	44057523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggccgaggtggagtcGgacaccaggatccagctctc	13	13	1	0	rs529058684	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:44057523G>A	ENST00000359947.4	+	10	1912	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	PTPRF_ENST00000438120.1_Silent_p.S524S|PTPRF_ENST00000422171.2_5'UTR|PTPRF_ENST00000372413.3_Silent_p.S524S|PTPRF_ENST00000372414.3_Silent_p.S524S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	524	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGTGGAGTCGGACACCAGGA	0.642													G|||	2	0.000399361	0	0	5008	,	,		17654	0		0	False		,,,				2504	0.002				p.S524S		.											.	PTPRF-232	0			c.G1572A						.						37	33	35					1																	44057523		2203	4300	6503	SO:0001819	synonymous_variant	5792	exon10			GGAGTCGGACACC	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.1572G>A	1.37:g.44057523G>A		Somatic	254	0		WXS	Illumina GAIIx	Phase_I	138	40	NM_002840	0	0	2	3	1	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.695|8.695	0.908260|0.908260	0.17833|0.17833	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.95|4.95	-9.91|-9.91	0.00458|0.00458	.|.	.|.	.|.	.|.	.|.	T|T	0.41465|0.41465	0.1160|0.1160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50154|0.50154	-0.8861|-0.8861	4|4	.|.	.|.	.|.	.|.	4.6794|4.6794	0.12727|0.12727	0.5716:0.1986:0.1041:0.1257|0.5716:0.1986:0.1041:0.1257	.|.	.|.	.|.	.|.	R|Q	192;49|181	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43830110|43830110	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.862000|0.862000	0.49288|0.49288	-3.381000|-3.381000	0.00491|0.00491	-3.101000|-3.101000	0.00244|0.00244	-0.471000|-0.471000	0.05019|0.05019	GGA|CGG	.		0.642	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44057523	G	A	44057523	2	1	27	1	0	0	0	0	0	0	0	1	12846	1103	39	1		1	PTPRF	1	44057523	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	230729	44057523	205193098	16	4576											
DNTTIP2	30836	broad.mit.edu;bcgsc.ca	37	chr1	94342201	94342201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccctgagatgtgttgggCgcagacgtgtatagtttggt	14	6	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:94342201C>T	ENST00000436063.2	-	2	1347	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	430			A -> V (in dbSNP:rs35650636).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A430A(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATGTGTTGGGCGCAGACGTGT	0.393																																					p.A430A		.											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A						.						229	220	223					1																	94342201		1972	4163	6135	SO:0001819	synonymous_variant	30836	exon2			GTTGGGCGCAGAC	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1290G>A	1.37:g.94342201C>T		Somatic	430	0		WXS	Illumina GAIIx	Phase_I	264	10	NM_014597	0	0	24	25	1	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																			.		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		T	94342201	C	T	94342201	2	4	27	1	0	0	0	0	0	0	0	1	4696	755	27	1		1	DNTTIP2	1	94342201	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	50284678	94342201	154908420	17	4577											
BCL9	607	bcgsc.ca	37	chr1	147092112	147092112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttcctagtgggatgaaGggagatgtcaatctaaatgt	13	4	2	2	rs61754125	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:147092112G>A	ENST00000234739.3	+	8	2891	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	717	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)					GTGGGATGAAGGGAGATGTCA	0.517			T	"IGH@, IGL@"	B-ALL								G|||	91	0.0181709	0	0.0231	5008	,	,		18880	0		0.0288	False		,,,				2504	0.047				p.K717K		.		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	BCL9-707	0			c.G2151A						.	G		34,4372	39.2+/-71.8	0,34,2169	48	49	49		2151	3.2	1	1	dbSNP_129	49	308,8292	108.2+/-168.9	4,300,3996	no	coding-synonymous	BCL9	NM_004326.2		4,334,6165	AA,AG,GG		3.5814,0.7717,2.6296		717/1427	147092112	342,12664	2203	4300	6503	SO:0001819	synonymous_variant	607	exon8			GATGAAGGGAGAT	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.2151G>A	1.37:g.147092112G>A		Somatic	115	1		WXS	Illumina GAIIx	Phase_I	98	6	NM_004326	0	0	12	12	0	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																			G|0.978;A|0.022		0.517	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		A	147092112	G	A	147092112	2	1	27	1	0	0	0	0	0	0	0	1	1382	991	35	3		3	BCL9	1	147092112	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	52749911	147092112	102158509	18	4578											
OTUD7B	56957	broad.mit.edu	37	chr1	149939226	149939226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactcactgacctgcctgTtccaaggcaaccagcatgga	9	14	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:149939226T>C	ENST00000369135.4	-	4	789	c.495A>G	c.(493-495)gaA>gaG	p.E165E	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	165	TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GACCTGCCTGTTCCAAGGCAA	0.532																																					p.E165E		.											.	OTUD7B-502	0			c.A495G						.						61	60	60					1																	149939226		2033	4198	6231	SO:0001819	synonymous_variant	56957	exon4			TGCCTGTTCCAAG	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.495A>G	1.37:g.149939226T>C		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	114	3	NM_020205	0	0	0	0	0	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																			.		0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		C	149939226	T	C	149939226	2	2	27	1	0	0	0	0	0	0	0	1	11358	1722	60	4		4	OTUD7B	1	149939226	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	2847114	149939226	99311395	19	4579											
RPTN	126638	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	12	11	4	1	rs201025925		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22400	0		0	False		,,,				2504	0				p.G296S		.											.	RPTN-68	0			c.G886A						.						597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638	exon3			TCTGACCGTAGTG	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.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	165	142	NM_001122965	0	0	0	0	0	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT	C|0.999;T|0.001		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152128689	C	T	152128689	3	4	27	1	0	0	0	0	1	0	0	0	13709	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2189463	152128689	97121932	20	4580											
FLG	2312	broad.mit.edu;bcgsc.ca	37	chr1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcagatgaagcttgccCgcgcccagtggctgagtgtc	14	12	0	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:152286155C>T	ENST00000368799.1	-	3	1242	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	403	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)			GAAGCTTGCCCGCGCCCAGTG	0.562									Ichthyosis																												p.G403R		.											.	FLG-106	0			c.G1207A						.						240	244	243					1																	152286155		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTTGCCCGCGCCC	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.1207G>A	1.37:g.152286155C>T	ENSP00000357789:p.Gly403Arg	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	148	6	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.65	1.702544	0.30232	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	4.17	0.0271	0.14153	.	.	.	.	.	T	0.03915	0.0110	L	0.41824	1.3	0.09310	N	1	D	0.69078	0.997	D	0.73708	0.981	T	0.35025	-0.9805	9	0.46703	T	0.11	.	3.9384	0.09316	0.0:0.5099:0.1784:0.3117	.	403	P20930	FILA_HUMAN	R	403	ENSP00000357789:G403R	ENSP00000357789:G403R	G	-	1	0	FLG	150552779	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.689000	0.05144	-0.081000	0.12662	0.499000	0.49734	GGG	.		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286155	C	T	152286155	3	4	27	1	0	0	0	0	1	0	0	0	5944	652	23	1	10982	1	FLG	1	152286155	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	157466	152286155	96964466	21	4581											
CLK2	1196	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	155238573	155238573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctacactcttggctctcCggctgctgtgctgctgtcgg	11	15	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:155238573C>T	ENST00000368361.4	-	4	728	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CLK2_ENST00000355560.4_Missense_Mutation_p.R136Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.R137Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R138Q			P49760	CLK2_HUMAN	CDC-like kinase 2	138					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTGGCTCTCCGGCTGCTGTG	0.652								Other conserved DNA damage response genes																													p.R137Q		.											.	CLK2-333	0			c.G410A						.						89	73	78					1																	155238573		2203	4300	6503	SO:0001583	missense	1196	exon4			GCTCTCCGGCTGC	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.413G>A	1.37:g.155238573C>T	ENSP00000357345:p.Arg138Gln	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	51	42	NM_003993	0	0	0	4	4	B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37		.	.	.	.	.	.	.	.	.	.	.	15.75	2.924870	0.52759	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.53640	0.62;0.61;0.62;0.61	4.86	3.95	0.45737	.	0.112117	0.56097	D	0.000022	T	0.23451	0.0567	L	0.50333	1.59	0.52501	D	0.999958	B;B	0.29085	0.095;0.232	B;B	0.14023	0.002;0.01	T	0.08743	-1.0707	10	0.34782	T	0.22	.	12.4111	0.55468	0.0:0.9175:0.0:0.0825	.	138;137	P49760;P49760-3	CLK2_HUMAN;.	Q	137;138;136;138	ENSP00000354856:R137Q;ENSP00000357345:R138Q;ENSP00000347759:R136Q;ENSP00000441023:R138Q	ENSP00000347759:R136Q	R	-	2	0	CLK2	153505197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.822000	0.62686	1.413000	0.46997	0.655000	0.94253	CGG	.		0.652	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		T	155238573	C	T	155238573	3	4	27	1	0	0	0	0	1	0	0	0	3544	652	23	1	1126	1	CLK2	1	155238573	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2952418	155238573	94012048	22	4582											
ASH1L	55870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	155348172	155348172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggggtttgacatcaaCgtagacatcttgaaaagaaa	10	5	2	5	rs368443129		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:155348172C>T	ENST00000368346.3	-	10	6886	c.6247G>A	c.(6247-6249)Gtt>Att	p.V2083I	ASH1L_ENST00000392403.3_Missense_Mutation_p.V2078I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2083	Catalytic domain.				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)			TTGACATCAACGTAGACATCT	0.408																																					p.V2078I		.											.	ASH1L-234	0			c.G6232A						.	C	ILE/VAL	0,4406		0,0,2203	147	143	145		6232	6.2	1	1		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASH1L	NM_018489.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	2078/2965	155348172	1,13005	2203	4300	6503	SO:0001583	missense	55870	exon10			CATCAACGTAGAC	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.6247G>A	1.37:g.155348172C>T	ENSP00000357330:p.Val2083Ile	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	93	7	NM_018489	0	0	0	0	0	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.311204	0.81358	0.0	1.16E-4	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.80393	-1.37;-1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	L	0.47078	1.49	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.67231	0.893;0.95	D	0.83901	0.0290	10	0.54805	T	0.06	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	2083;2078	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	2083;2078	ENSP00000357330:V2083I;ENSP00000376204:V2078I	ENSP00000357330:V2083I	V	-	1	0	ASH1L	153614796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTT	.		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		T	155348172	C	T	155348172	3	4	27	1	0	0	0	0	1	0	0	0	1042	536	19	1	2738	1	ASH1L	1	155348172	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	109599	155348172	93902449	23	4583											
PEAR1	375033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156882744	156882744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcttacagcagcgggCgcctggacggctccgagtat	15	12	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:156882744C>T	ENST00000338302.3	+	19	2617	c.2392C>T	c.(2392-2394)Cgc>Tgc	p.R798C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R798C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	798					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCAGCGGGCGCCTGGACGG	0.617																																					p.R798C		.											.	PEAR1-71	0			c.C2392T						.						66	65	65					1																	156882744		2203	4300	6503	SO:0001583	missense	375033	exon18			AGCGGGCGCCTGG	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2392C>T	1.37:g.156882744C>T	ENSP00000344465:p.Arg798Cys	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	96	90	NM_001080471	0	0	0	0	0	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128298	0.56721	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.90620	-2.7;-2.7	5.23	4.31	0.51392	.	0.419192	0.17965	N	0.156045	D	0.89444	0.6717	M	0.73962	2.25	0.53005	D	0.999961	D	0.76494	0.999	P	0.50791	0.65	D	0.88078	0.2805	10	0.38643	T	0.18	.	12.7139	0.57103	0.1761:0.8239:0.0:0.0	.	798	Q5VY43	PEAR1_HUMAN	C	798	ENSP00000344465:R798C;ENSP00000292357:R798C	ENSP00000292357:R798C	R	+	1	0	PEAR1	155149368	0.349000	0.24870	0.351000	0.25721	0.076000	0.17211	1.278000	0.33179	1.394000	0.46624	0.563000	0.77884	CGC	.		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156882744	C	T	156882744	3	4	27	1	0	0	0	0	1	0	0	0	11751	768	27	1	2458	1	PEAR1	1	156882744	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1534572	156882744	92367877	24	4584											
COPA	1314	broad.mit.edu	37	chr1	160265920	160265920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaagccatgggtagcagcTgtgagataggccagggactc	14	9	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:160265920T>C	ENST00000241704.7	-	22	2512	c.2283A>G	c.(2281-2283)acA>acG	p.T761T	COPA_ENST00000368069.3_Silent_p.T770T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	761					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)			GGGTAGCAGCTGTGAGATAGG	0.448																																					p.T770T		.											.	COPA-92	0			c.A2310G						.						105	103	104					1																	160265920		2203	4300	6503	SO:0001819	synonymous_variant	1314	exon22			AGCAGCTGTGAGA	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.2283A>G	1.37:g.160265920T>C		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	95	5	NM_001098398	0	0	38	38	0	Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																			.		0.448	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		C	160265920	T	C	160265920	2	2	27	1	0	0	0	0	0	0	0	1	3734	1567	55	4		4	COPA	1	160265920	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	3383176	160265920	88984701	25	4585											
POU2F1	5451	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167343435	167343435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcagcagcactccGccagccagcagcacagtgct	11	16	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:167343435G>A	ENST00000541643.3	+	7	586	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	POU2F1_ENST00000367866.2_Missense_Mutation_p.A165T|POU2F1_ENST00000367862.5_Missense_Mutation_p.A154T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_Missense_Mutation_p.A142T|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A142T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	142					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCAGCACTCCGCCAGCCAGCA	0.602																																					p.A165T		.											.	POU2F1-579	0			c.G493A						.						21	22	22					1																	167343435		2201	4300	6501	SO:0001583	missense	5451	exon6			CACTCCGCCAGCC	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.424G>A	1.37:g.167343435G>A	ENSP00000441285:p.Ala142Thr	Somatic	195	1		WXS	Illumina GAIIx	Phase_I	152	63	NM_002697	0	0	0	0	0	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.607356	0.87157	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.8	5.8	0.92144	.	2.994580	0.01147	N	0.006336	D	0.86932	0.6052	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.99;0.99;0.994;0.978	T	0.73962	-0.3817	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	142;154;140;142	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	T	165;142;19;140;142;142;154;50	ENSP00000356840:A165T;ENSP00000391523:A142T;ENSP00000356839:A140T;ENSP00000414660:A142T;ENSP00000441285:A142T;ENSP00000356836:A154T;ENSP00000415993:A50T	ENSP00000356836:A154T	A	+	1	0	POU2F1	165610059	1.000000	0.71417	0.981000	0.43875	0.797000	0.45037	9.434000	0.97515	2.732000	0.93576	0.650000	0.86243	GCC	.		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		A	167343435	G	A	167343435	3	1	27	1	0	0	0	0	1	0	0	0	12310	1087	38	1	442	1	POU2F1	1	167343435	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	7077515	167343435	81907186	26	4586											
KIFAP3	22920	ucsc.edu;bcgsc.ca	37	chr1	169951997	169951997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctgggctgcaaggtcCccaacataatcctgaataaa	9	10	1	2	rs33943686	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:169951997C>T	ENST00000361580.2	-	14	1745	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	KIFAP3_ENST00000367767.1_Silent_p.G462G|KIFAP3_ENST00000540905.1_Silent_p.G208G|KIFAP3_ENST00000538366.1_Silent_p.G428G|KIFAP3_ENST00000367765.1_Silent_p.G466G	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGCAAGGTCCCCAACATAAT	0.313													C|||	1372	0.273962	0.087	0.2867	5008	,	,		13409	0.503		0.326	False		,,,				2504	0.228				p.G506G		.											.	KIFAP3-91	0			c.G1518A						.	C	,,,	484,3922	208.8+/-229.8	34,416,1753	52	50	51		1284,1386,1398,1518	1.3	1	1	dbSNP_126	51	2759,5837	424.4+/-354.6	484,1791,2023	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIFAP3	NM_001204514.1,NM_001204516.1,NM_001204517.1,NM_014970.3	,,,	518,2207,3776	TT,TC,CC		32.0963,10.985,24.9423	,,,	428/715,462/749,466/753,506/793	169951997	3243,9759	2203	4298	6501	SO:0001819	synonymous_variant	22920	exon14			AAGGTCCCCAACA	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1518G>A	1.37:g.169951997C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	47	5	NM_014970	0	0	0	0	0	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	CCDS1288.1																																																																																			C|0.728;T|0.272		0.313	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		T	169951997	C	T	169951997	2	4	27	1	0	0	0	0	0	0	0	1	8338	610	22	3		3	KIFAP3	1	169951997	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2608562	169951997	79298624	27	4587											
BAT2L2	23215	broad.mit.edu;bcgsc.ca	37	chr1	171506485	171506485	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcatttgagcatatagctCgatctgcaagagatcacgca	9	9	3	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:171506485C>T	ENST00000338920.4	+	15	2608	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.R793*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.R791*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.R793*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	791					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCATATAGCTCGATCTGCAAG	0.463																																					p.R791X		.											.	.	0			c.C2371T						.						69	59	62					1																	171506485		2202	4300	6502	SO:0001587	stop_gained	23215	exon15			ATAGCTCGATCTG	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.2371C>T	1.37:g.171506485C>T	ENSP00000343629:p.Arg791*	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	126	6	NM_015172	0	0	10	11	1	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	42	9.586797	0.99213	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	5.3	3.37	0.38596	.	0.000000	0.39341	N	0.001381	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	14.4833	0.67597	0.2667:0.7333:0.0:0.0	.	.	.	.	X	793;792;791;793;791;548;550	.	ENSP00000343629:R791X	R	+	1	2	PRRC2C	169773109	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	2.341000	0.43983	0.581000	0.29539	0.650000	0.86243	CGA	.		0.463	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171506485	C	T	171506485	4	4	27	1	0	0	0	0	0	1	0	0	1322	876	31	1	2425	1	BAT2L2	1	171506485	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1554488	171506485	77744136	28	4588											
RC3H1	149041	broad.mit.edu	37	chr1	173912683	173912683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccattttggaggtggcGgtggtgggggctgtgactgg	21	6	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:173912683G>A	ENST00000367696.2	-	18	3383	c.3032C>T	c.(3031-3033)cCg>cTg	p.P1011L	RC3H1_ENST00000367694.2_Missense_Mutation_p.P1002L|RC3H1_ENST00000258349.4_Missense_Mutation_p.P1011L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1011					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGAGGTGGCGGTGGTGGGGG	0.547																																					p.P1011L		.											.	RC3H1-92	0			c.C3032T						.						122	111	115					1																	173912683		2203	4300	6503	SO:0001583	missense	149041	exon17			GGTGGCGGTGGTG	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3032C>T	1.37:g.173912683G>A	ENSP00000356669:p.Pro1011Leu	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	114	5	NM_172071	0	0	0	0	0	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054286	0.19907	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.41758	0.99;0.99;1.01	5.17	4.24	0.50183	.	0.358987	0.32161	N	0.006492	T	0.15522	0.0374	L	0.36672	1.1	0.40147	D	0.976905	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.05517	-1.0880	10	0.44086	T	0.13	-0.2201	7.1663	0.25693	0.0875:0.0:0.7431:0.1694	.	1011;1002;1002;1011	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	1011;1011;1002	ENSP00000356669:P1011L;ENSP00000258349:P1011L;ENSP00000356667:P1002L	ENSP00000258349:P1011L	P	-	2	0	RC3H1	172179306	1.000000	0.71417	0.068000	0.19968	0.176000	0.22953	3.472000	0.53114	1.138000	0.42230	0.655000	0.94253	CCG	.		0.547	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		A	173912683	G	A	173912683	3	1	27	1	0	0	0	0	1	0	0	0	13211	1116	39	1	381	1	RC3H1	1	173912683	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2406198	173912683	75337938	29	4589											
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	176833494	176833494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacacgtcttcctgaggtCccggctgagctccgcccagt	10	17	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:176833494C>T	ENST00000367654.3	-	23	4046	c.3835G>A	c.(3835-3837)Gac>Aac	p.D1279N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D1271N|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1279					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTCCTGAGGTCCCGGCTGAGC	0.587																																					p.D1271N		.											.	ASTN1-319	0			c.G3811A						.						115	111	112					1																	176833494		2203	4300	6503	SO:0001583	missense	460	exon23			TGAGGTCCCGGCT	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3835G>A	1.37:g.176833494C>T	ENSP00000356626:p.Asp1279Asn	Somatic	124	1		WXS	Illumina GAIIx	Phase_I	74	71	NM_004319	0	0	0	1	1	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.299254	0.95574	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14144	2.54;2.53	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.04454	-1.0950	10	0.87932	D	0	-23.7671	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1271	O14525-2	.	N	1271;1279	ENSP00000354536:D1271N;ENSP00000356626:D1279N	ENSP00000354536:D1271N	D	-	1	0	ASTN1	175100117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.037000	0.76531	2.282000	0.76494	0.555000	0.69702	GAC	.		0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176833494	C	T	176833494	3	4	27	1	0	0	0	0	1	0	0	0	1065	855	30	3	77	3	ASTN1	1	176833494	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2920811	176833494	72417127	30	4590											
ZNF648	127665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	182025773	182025773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgaggcgcgagggctgcGcgaaggccacgccgcagtca	17	14	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:182025773G>A	ENST00000339948.3	-	2	1580	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	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(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGAGGGCTGCGCGAAGGCCAC	0.662																																					p.A458V	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C1373T						.						35	33	33					1																	182025773		2199	4300	6499	SO:0001583	missense	127665	exon2			GGCTGCGCGAAGG	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.1373C>T	1.37:g.182025773G>A	ENSP00000344129:p.Ala458Val	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	114	23	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303590	0.40795	.	.	ENSG00000179930	ENST00000339948	T	0.17854	2.25	2.77	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	L	0.39326	1.205	0.32881	D	0.510567	B	0.28055	0.199	B	0.23150	0.044	T	0.11891	-1.0569	9	0.49607	T	0.09	.	7.1829	0.25782	0.0:0.0:0.5171:0.4829	.	458	Q5T619	ZN648_HUMAN	V	458	ENSP00000344129:A458V	ENSP00000344129:A458V	A	-	2	0	ZNF648	180292396	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-0.168000	0.09925	0.661000	0.30985	0.655000	0.94253	GCG	.		0.662	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		A	182025773	G	A	182025773	3	1	27	1	0	0	0	0	1	0	0	0	18111	1087	38	1	337	1	ZNF648	1	182025773	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	5192279	182025773	67224848	31	4591											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	185956660	185956660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtggaaatcccaaaccgtCtgtcatctggtccaaggtaa	9	10	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:185956660C>T	ENST00000271588.4	+	20	3261	c.3032C>T	c.(3031-3033)tCt>tTt	p.S1011F	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S1011F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1011	Ig-like C2-type 7.				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						CCCAAACCGTCTGTCATCTGG	0.443																																					p.S1011F		.											.	HMCN1-113	0			c.C3032T						.						158	160	159					1																	185956660		2203	4300	6503	SO:0001583	missense	83872	exon20			AACCGTCTGTCAT	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.3032C>T	1.37:g.185956660C>T	ENSP00000271588:p.Ser1011Phe	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	66	55	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.982045	0.34942	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69806	-0.43;-0.43	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.305511	0.35378	N	0.003248	T	0.80783	0.4689	M	0.64567	1.98	0.09310	N	0.999993	P;D	0.76494	0.897;0.999	P;D	0.83275	0.847;0.996	T	0.73783	-0.3874	10	0.56958	D	0.05	.	19.0253	0.92930	0.0:1.0:0.0:0.0	.	395;1011	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	F	1011	ENSP00000271588:S1011F;ENSP00000356462:S1011F	ENSP00000271588:S1011F	S	+	2	0	HMCN1	184223283	0.918000	0.31147	0.019000	0.16419	0.061000	0.15899	4.573000	0.60893	2.501000	0.84356	0.655000	0.94253	TCT	.		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185956660	C	T	185956660	3	4	27	1	0	0	0	0	1	0	0	0	7247	913	32	3	3110	3	HMCN1	1	185956660	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3930887	185956660	63293961	32	4592											
CFH	3075	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr1	196659281	196659281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctatagacgttgcctgCcatcctggctacgctcttcc	7	14	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:196659281C>T	ENST00000359637.2	+	8	1118	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C	CFH_ENST00000367429.4_Silent_p.C416C|CFH_ENST00000439155.2_Silent_p.C416C			P08603	CFAH_HUMAN	complement factor H	416	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413																																					p.C416C		.											.	CFH-566	0			c.C1248T						.						98	84	89					1																	196659281		2203	4300	6503	SO:0001819	synonymous_variant	3075	exon9			TGCCTGCCATCCT	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1056C>T	1.37:g.196659281C>T		Somatic	646	2		WXS	Illumina GAIIx	Phase_I	432	151	NM_001014975	0	0	1	1	0	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37																																																																																				.		0.413	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		T	196659281	C	T	196659281	2	4	27	1	0	0	0	0	0	0	0	1	3290	747	26	3		3	CFH	1	196659281	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	10702621	196659281	52591340	33	4593											
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197060024	197060024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttttcctgctttttacGgaggagaaaatggcgcactg	11	7	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:197060024G>A	ENST00000367409.4	-	23	9848	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	ASPM_ENST00000367408.1_Missense_Mutation_p.R863C|ASPM_ENST00000294732.7_Missense_Mutation_p.R1613C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3198	IQ 38. {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						TGCTTTTTACGGAGGAGAAAA	0.358																																					p.R3198C		.											.	ASPM-615	0			c.C9592T						.						100	98	99					1																	197060024		2203	4299	6502	SO:0001583	missense	259266	exon23			TTTTACGGAGGAG	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.9592C>T	1.37:g.197060024G>A	ENSP00000356379:p.Arg3198Cys	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	47	15	NM_018136	0	0	0	2	2	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280132	0.10458	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.77358	-1.09;-1.09;0.97	5.05	-4.84	0.03151	.	0.619767	0.15813	N	0.243367	T	0.60064	0.2240	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25809	0.013;0.007;0.135	B;B;B	0.25987	0.003;0.005;0.065	T	0.50189	-0.8857	10	0.56958	D	0.05	.	6.2894	0.21051	0.5254:0.0:0.2646:0.21	.	1184;1613;3198	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	C	3198;1613;863;1184	ENSP00000356379:R3198C;ENSP00000294732:R1613C;ENSP00000356378:R863C	ENSP00000294732:R1613C	R	-	1	0	ASPM	195326647	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.221000	0.09202	-0.772000	0.04602	-0.339000	0.08088	CGT	.		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197060024	G	A	197060024	3	1	27	1	0	0	0	0	1	0	0	0	1057	1116	39	1	865	1	ASPM	1	197060024	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	400743	197060024	52190597	34	4594											
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	210856743	210856743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgagtatctcagagagCtgtttctcaatattggtcat	8	8	3	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:210856743C>T	ENST00000271751.4	-	11	2877	c.2850G>A	c.(2848-2850)caG>caA	p.Q950Q	KCNH1_ENST00000367007.4_Silent_p.Q923Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	950	CAD (involved in subunit assembly). {ECO:0000250}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTCAGAGAGCTGTTTCTCAA	0.498																																					p.Q950Q		.											.	KCNH1-94	0			c.G2850A						.						96	85	89					1																	210856743		2203	4300	6503	SO:0001819	synonymous_variant	3756	exon11			AGAGAGCTGTTTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2850G>A	1.37:g.210856743C>T		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	87	33	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																			.		0.498	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210856743	C	T	210856743	2	4	27	1	0	0	0	0	0	0	0	1	8058	796	28	3		3	KCNH1	1	210856743	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	13796719	210856743	38393878	35	4595											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	216373375	216373375	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgtaagtgacagctacactCcttgttgaaccatgcacatt	7	10	0	2	rs372843685		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:216373375C>G	ENST00000307340.3	-	17	3791	c.3405G>C	c.(3403-3405)agG>agC	p.R1135S	USH2A_ENST00000366942.3_Missense_Mutation_p.R1135S|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1135S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1135	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGCTACACTCCTTGTTGAAC	0.393										HNSCC(13;0.011)																											p.R1135S		.											.	USH2A-115	0			c.G3405C						.	C	SER/ARG,SER/ARG	0,4406		0,0,2203	94	92	92		3405,3405	0.6	0.3	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	110,110	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	1135/1547,1135/5203	216373375	1,13005	2203	4300	6503	SO:0001583	missense	7399	exon17			TACACTCCTTGTT	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.3405G>C	1.37:g.216373375C>G	ENSP00000305941:p.Arg1135Ser	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	110	104	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	8.780	0.927961	0.18056	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84370	-1.84;0.68;0.68	6.02	0.613	0.17597	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.131273	0.33792	N	0.004547	T	0.66858	0.2832	N	0.21282	0.65	0.34162	D	0.668739	B;B	0.26708	0.046;0.157	B;B	0.21708	0.036;0.031	T	0.57441	-0.7811	10	0.09084	T	0.74	.	5.1828	0.15169	0.1519:0.2957:0.0:0.5524	.	1135;1135	O75445-2;O75445	.;USH2A_HUMAN	S	1135	ENSP00000305941:R1135S;ENSP00000355910:R1135S;ENSP00000355909:R1135S	ENSP00000305941:R1135S	R	-	3	2	USH2A	214439998	0.872000	0.30054	0.260000	0.24451	0.528000	0.34623	0.221000	0.17680	0.062000	0.16340	-0.136000	0.14681	AGG	.		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216373375	C	G	216373375	3	3	27	1	0	0	0	0	1	0	0	0	17085	854	30	3	12441	3	USH2A	1	216373375	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5516632	216373375	32877246	36	4596											
DISP1	84976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	223116579	223116579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgtatcagactacGtgctgtcttcagccctctcc	7	15	5	1	rs143316612	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:223116579G>A	ENST00000284476.6	+	2	578	c.414G>A	c.(412-414)acG>acA	p.T138T	DISP1_ENST00000360254.2_Silent_p.T138T|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	138					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATCAGACTACGTGCTGTCTTC	0.522													G|||	5	0.000998403	8e-04	0.0029	5008	,	,		23312	0		0.002	False		,,,				2504	0				p.T138T		.											.	DISP1-68	0			c.G414A						.	G		3,4403	6.2+/-15.9	0,3,2200	153	111	125		414	2.7	1	1	dbSNP_134	125	23,8577	16.6+/-54.9	0,23,4277	no	coding-synonymous	DISP1	NM_032890.3		0,26,6477	AA,AG,GG		0.2674,0.0681,0.1999		138/1525	223116579	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	84976	exon4			GACTACGTGCTGT	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.414G>A	1.37:g.223116579G>A		Somatic	290	1		WXS	Illumina GAIIx	Phase_I	213	186	NM_032890	0	0	0	3	3	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																			G|0.998;A|0.002		0.522	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		A	223116579	G	A	223116579	2	1	27	1	0	0	0	0	0	0	0	1	4553	1132	40	1		1	DISP1	1	223116579	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6743204	223116579	26134042	37	4597											
OBSCN	84033	bcgsc.ca;mdanderson.org	37	chr1	228503565	228503565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaagaacacggtggtgCgggggctggagaatgtggag	19	7	0	2	rs574344246	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:228503565C>T	ENST00000422127.1	+	50	13074	c.13030C>T	c.(13030-13032)Cgg>Tgg	p.R4344W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5301W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1463W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1978W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4344W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4344	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)				CACGGTGGTGCGGGGGCTGGA	0.667													C|||	2	0.000399361	0	0.0029	5008	,	,		14188	0		0	False		,,,				2504	0				p.R5301W		.											.	OBSCN-403	0			c.C15901T						.						16	21	19					1																	228503565		2069	4180	6249	SO:0001583	missense	84033	exon61			GTGGTGCGGGGGC	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.13030C>T	1.37:g.228503565C>T	ENSP00000409493:p.Arg4344Trp	Somatic	45	1		WXS	Illumina GAIIx	Phase_I	64	53	NM_001271223	0	0	0	2	2	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593337	0.66219	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.89	3.96	0.45880	Immunoglobulin-like fold (1);	0.449855	0.19305	N	0.117541	T	0.17323	0.0416	L	0.55834	1.745	0.34506	D	0.706531	D;D	0.89917	0.998;1.0	P;P	0.59424	0.661;0.857	T	0.16482	-1.0401	10	0.72032	D	0.01	.	14.2356	0.65925	0.1571:0.8429:0.0:0.0	.	4344;4344	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4344;4344;1978;1463	ENSP00000284548:R4344W;ENSP00000409493:R4344W;ENSP00000355668:R1978W;ENSP00000355670:R1463W	ENSP00000284548:R4344W	R	+	1	2	OBSCN	226570188	1.000000	0.71417	0.753000	0.31225	0.129000	0.20672	4.727000	0.61993	1.026000	0.39733	0.313000	0.20887	CGG	.		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228503565	C	T	228503565	3	4	27	1	0	0	0	0	1	0	0	0	10851	759	27	1	13224	1	OBSCN	1	228503565	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5386986	228503565	20747056	38	4598											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504669	228504669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg	17	15	2	0	rs61825302	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000366709.4_Silent_p.A1634A|OBSCN_ENST00000366707.4_Silent_p.A2149A|OBSCN_ENST00000284548.11_Silent_p.A4515A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941				p.A5472A		.											.	OBSCN-403	0			c.G16416A						.		,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033	exon62			CTCTGCGCGGCTC	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.13545G>A	1.37:g.228504669G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	30	29	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.841;A|0.159		0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	27	1	0	0	0	0	0	0	0	1	10851	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1104	228504669	20745952	39	4599											
ZNF238	10472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	244218382	244218382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcatgtacaccctcaagCgccacgagaggactcactcg	9	15	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr1:244218382C>T	ENST00000358704.4	+	2	1455	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	427					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACCCTCAAGCGCCACGAGAG	0.632																																					p.R436C		.											.	.	0			c.C1306T						.						71	73	72					1																	244218382		2203	4300	6503	SO:0001583	missense	10472	exon2			CTCAAGCGCCACG	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1306C>T	1.37:g.244218382C>T	ENSP00000351539:p.Arg436Cys	Somatic	324	0		WXS	Illumina GAIIx	Phase_I	184	167	NM_205768	0	0	3	12	9	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674634	0.67928	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.07800	3.16	5.68	5.68	0.88126	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	0.32526	0.0832	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.01409	-1.1362	10	0.87932	D	0	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	427;436	Q99592;Q99592-2	ZN238_HUMAN;.	C	436	ENSP00000351539:R436C	ENSP00000351539:R436C	R	+	1	0	ZNF238	242285005	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.963000	0.63694	2.702000	0.92279	0.655000	0.94253	CGC	.		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		T	244218382	C	T	244218382	3	4	27	1	0	0	0	0	1	0	0	0	17838	768	27	1	1312	1	ZNF238	1	244218382	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	15713713	244218382	5032239	40	4600											
RNF144A	9781	broad.mit.edu	37	chr2	7164508	7164508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcccacagtgctgcttTcaaaatggaagaagatgacg	9	9	2	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:7164508T>C	ENST00000320892.6	+	7	960	c.518T>C	c.(517-519)tTc>tCc	p.F173S	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	173					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AGTGCTGCTTTCAAAATGGAA	0.567																																					p.F173S		.											.	RNF144A-227	0			c.T518C						.						76	71	73					2																	7164508		2203	4300	6503	SO:0001583	missense	9781	exon7			CTGCTTTCAAAAT	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.518T>C	2.37:g.7164508T>C	ENSP00000321330:p.Phe173Ser	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	68	3	NM_014746	0	0	1	1	0	D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.39|12.39	1.922947|1.922947	0.33908|0.33908	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.62941|.	-0.01|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Zinc finger, C6HC-type (1);|.	0.237399|.	0.51477|.	D|.	0.000090|.	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.13235|0.13235	0.315|0.315	0.41325|0.41325	D|D	0.987203|0.987203	B|.	0.26708|.	0.157|.	B|.	0.39185|.	0.293|.	T|T	0.34279|0.34279	-0.9835|-0.9835	10|5	0.22109|.	T|.	0.4|.	.|.	10.1117|10.1117	0.42565|0.42565	0.2577:0.0:0.0:0.7423|0.2577:0.0:0.0:0.7423	.|.	173|.	P50876|.	R144A_HUMAN|.	S|P	173|169	ENSP00000321330:F173S|.	ENSP00000321330:F173S|.	F|S	+|+	2|1	0|0	RNF144A|RNF144A	7081959|7081959	1.000000|1.000000	0.71417|0.71417	0.579000|0.579000	0.28588|0.28588	0.566000|0.566000	0.35808|0.35808	3.026000|3.026000	0.49689|0.49689	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	TTC|TCA	.		0.567	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		C	7164508	T	C	7164508	3	2	27	1	0	0	0	0	1	0	0	0	13490	1783	62	4	536	4	RNF144A	2	7164508	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10		7164508	236034865	41	4601											
MPV17	4358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27535925	27535925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgttcctgcagacccCgcctctccaccagctgctgt	9	17	2	1	rs397507438|rs140992482		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:27535925C>T	ENST00000380044.1	-	3	177	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	MPV17_ENST00000405983.1_Missense_Mutation_p.R56Q|MPV17_ENST00000233545.2_Missense_Mutation_p.R41Q|MPV17_ENST00000403262.2_Missense_Mutation_p.R41Q|MPV17_ENST00000405076.1_Missense_Mutation_p.R41Q|MPV17_ENST00000402722.1_Silent_p.A29A|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.R41Q	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	41					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)		p.R56L(1)|p.R41L(1)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGACCCCGCCTCTCCAC	0.592																																					p.R41Q		.											.	MPV17-90	2	Substitution - Missense(2)	lung(2)	c.G122A						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	102	103	103		122	3.5	1	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	MPV17	NM_002437.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	41/177	27535925	1,13005	2203	4300	6503	SO:0001583	missense	4358	exon3			AGACCCCGCCTCT		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.122G>A	2.37:g.27535925C>T	ENSP00000369383:p.Arg41Gln	Somatic	247	1		WXS	Illumina GAIIx	Phase_I	175	154	NM_002437	0	0	5	15	10	D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	CCDS1748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.562395|3.562395	0.65538|0.65538	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115204|ENSG00000115204	ENST00000430991|ENST00000402310;ENST00000233545;ENST00000380044;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000428910	.|D;D;D;D;D;D;D	.|0.92099	.|-2.17;-2.59;-2.59;-2.62;-2.97;-2.13;-1.99	5.37|5.37	3.54|3.54	0.40534|0.40534	.|.	.|0.071484	.|0.53938	.|D	.|0.000048	D|D	0.91616|0.91616	0.7351|0.7351	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|P;D	.|0.57899	.|0.5;0.981	.|B;P	.|0.49637	.|0.109;0.617	D|D	0.89885|0.89885	0.4033|0.4033	5|10	.|0.39692	.|T	.|0.17	.|.	8.5133|8.5133	0.33231|0.33231	0.0:0.821:0.0:0.179|0.0:0.821:0.0:0.179	.|.	.|41;41	.|P39210;B5MC53	.|MPV17_HUMAN;.	R|Q	18|41;41;41;56;41;41;15	.|ENSP00000383955:R41Q;ENSP00000233545:R41Q;ENSP00000369383:R41Q;ENSP00000384586:R56Q;ENSP00000385175:R41Q;ENSP00000385671:R41Q;ENSP00000405235:R15Q	.|ENSP00000233545:R41Q	G|R	-|-	1|2	0|0	MPV17|MPV17	27389429|27389429	0.974000|0.974000	0.33945|0.33945	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.978000|1.978000	0.40598|0.40598	1.507000|1.507000	0.48752|0.48752	0.609000|0.609000	0.83330|0.83330	GGG|CGG	C|1.000;T|0.000		0.592	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		T	27535925	C	T	27535925	3	4	27	1	0	0	0	0	1	0	0	0	9783	652	23	1	432	1	MPV17	2	27535925	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	20371417	27535925	215663448	42	4602											
CLIP4	79745	bcgsc.ca	37	chr2	29366643	29366643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgttagagatggctgaCgccgcagccactgctaagga	13	11	0	2	rs115153920	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:29366643C>T	ENST00000320081.5	+	7	972	c.717C>T	c.(715-717)gaC>gaT	p.D239D	CLIP4_ENST00000401617.2_Silent_p.D132D|CLIP4_ENST00000404424.1_Silent_p.D239D|CLIP4_ENST00000401605.1_Silent_p.D239D	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	239										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGATGGCTGACGCCGCAGCCA	0.443													C|||	21	0.00419329	0.0151	0.0014	5008	,	,		20132	0		0	False		,,,				2504	0				p.D239D		.											.	CLIP4-91	0			c.C717T						.	C		54,4352	55.5+/-91.7	0,54,2149	103	100	101		717	-0.4	1	2	dbSNP_132	101	0,8600		0,0,4300	no	coding-synonymous	CLIP4	NM_024692.4		0,54,6449	TT,TC,CC		0.0,1.2256,0.4152		239/706	29366643	54,12952	2203	4300	6503	SO:0001819	synonymous_variant	79745	exon7			GGCTGACGCCGCA	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.717C>T	2.37:g.29366643C>T		Somatic	271	4		WXS	Illumina GAIIx	Phase_I	175	67	NM_024692	0	0	4	7	3	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																			C|0.995;T|0.005		0.443	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		T	29366643	C	T	29366643	2	4	27	1	0	0	0	0	0	0	0	1	3542	535	19	1		1	CLIP4	2	29366643	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1830718	29366643	213832730	43	4603											
MSH6	2956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	48026605	48026605	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaaatgatggaggcaCgatgtagaaagatggcacat	12	7	0	4	rs587779212		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:48026605C>T	ENST00000234420.5	+	4	1635	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.R193*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.R365*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	495					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.R495*(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATGGAGGCACGATGTAGAAA	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R495X		.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	MSH6-3014	4	Substitution - Nonsense(2)|Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(4)	c.C1483T						.						91	83	86					2																	48026605		2203	4300	6503	SO:0001587	stop_gained	2956	exon4	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	GAGGCACGATGTA	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1483C>T	2.37:g.48026605C>T	ENSP00000234420:p.Arg495*	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	165	151	NM_000179	0	0	0	2	2	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	41	8.994209	0.99029	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.35	1.2	0.21068	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1781	14.8717	0.70462	0.5242:0.4758:0.0:0.0	.	.	.	.	X	495;493;365;193	.	ENSP00000234420:R495X	R	+	1	2	MSH6	47880109	0.982000	0.34865	0.731000	0.30826	0.903000	0.53119	2.587000	0.46128	-0.070000	0.12908	0.650000	0.86243	CGA	.		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		T	48026605	C	T	48026605	4	4	27	1	0	0	0	0	0	1	0	0	9912	528	19	1	1497	1	MSH6	2	48026605	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	18659962	48026605	195172768	44	4604											
PSME4	23198	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	54159045	54159045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaagcctgggctgcttctaGactaccggttttgctaaaca	9	11	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:54159045G>T	ENST00000404125.1	-	10	1298	c.1243C>A	c.(1243-1245)Cta>Ata	p.L415I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	415					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)			GCTGCTTCTAGACTACCGGTT	0.453																																					p.L415I		.											.	PSME4-275	0			c.C1243A						.						82	77	79					2																	54159045		2203	4300	6503	SO:0001583	missense	23198	exon10			CTTCTAGACTACC	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.1243C>A	2.37:g.54159045G>T	ENSP00000384211:p.Leu415Ile	Somatic	261	2		WXS	Illumina GAIIx	Phase_I	164	147	NM_014614	0	0	0	1	1	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292005	0.40594	.	.	ENSG00000068878	ENST00000404125	T	0.05258	3.47	5.62	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	N	0.14661	0.345	0.80722	D	1	B	0.20988	0.05	B	0.12837	0.008	T	0.50224	-0.8853	10	0.22706	T	0.39	.	8.0894	0.30793	0.2936:0.0:0.7064:0.0	.	415	Q14997	PSME4_HUMAN	I	415	ENSP00000384211:L415I	ENSP00000374643:L415I	L	-	1	2	PSME4	54012549	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.980000	0.56895	0.302000	0.22762	-0.201000	0.12746	CTA	.		0.453	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54159045	G	T	54159045	3	4	27	1	0	0	0	0	1	0	0	0	12751	933	33	3	4436	3	PSME4	2	54159045	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6132440	54159045	189040328	45	4605											
GMCL1	64395	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	70096886	70096886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggttttaacttcggcttCgacctacttgtaacttacac	6	11	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:70096886C>T	ENST00000282570.3	+	12	1505	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	418					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						ACTTCGGCTTCGACCTACTTG	0.373																																					p.F418F		.											.	GMCL1-93	0			c.C1254T						.						148	133	138					2																	70096886		2203	4300	6503	SO:0001819	synonymous_variant	64395	exon12			CGGCTTCGACCTA	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1254C>T	2.37:g.70096886C>T		Somatic	84	1		WXS	Illumina GAIIx	Phase_I	70	66	NM_178439	0	0	0	12	12	Q9H826|Q9H8V7|Q9H927	Silent	SNP	ENST00000282570.3	37	CCDS1895.1																																																																																			.		0.373	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		T	70096886	C	T	70096886	2	4	27	1	0	0	0	0	0	0	0	1	6511	883	31	1		1	GMCL1	2	70096886	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	15937841	70096886	173102487	46	4606											
PCBP1	5093	broad.mit.edu	37	chr2	70315210	70315210	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccagtgcggctcccTgattgggaaaggcgggtgta	16	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:70315210T>A	ENST00000303577.5	+	1	626	c.335T>A	c.(334-336)cTg>cAg	p.L112Q	PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	112	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TGCGGCTCCCTGATTGGGAAA	0.652																																					p.L112Q	Colon(85;1146 1307 3484 18706 25380)	.											.	PCBP1-226	0			c.T335A						.						50	62	57					2																	70315210		2200	4296	6496	SO:0001583	missense	5093	exon1			GCTCCCTGATTGG		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.335T>A	2.37:g.70315210T>A	ENSP00000305556:p.Leu112Gln	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	89	5	NM_006196	0	0	253	253	0	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.450675	0.63290	.	.	ENSG00000169564	ENST00000303577	T	0.38240	1.15	4.03	2.86	0.33363	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	U	0.000003	T	0.66509	0.2796	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70726	-0.4793	10	0.87932	D	0	.	8.1045	0.30877	0.0:0.0995:0.0:0.9004	.	112	Q15365	PCBP1_HUMAN	Q	112	ENSP00000305556:L112Q	ENSP00000305556:L112Q	L	+	2	0	PCBP1	70168714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.604000	0.82830	0.894000	0.36317	0.397000	0.26171	CTG	.		0.652	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		A	70315210	T	A	70315210	3	1	27	1	0	0	0	0	1	0	0	0	11539	1580	55	5	337	5	PCBP1	2	70315210	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	218324	70315210	172884163	47	4607											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84899458	84899458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttccctaggagcaccGggaaacaaacgaattgtgat	9	8	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:84899458G>A	ENST00000237449.6	+	39	6470	c.6462G>A	c.(6460-6462)ccG>ccA	p.P2154P	DNAH6_ENST00000389394.3_Silent_p.P2154P|DNAH6_ENST00000398278.2_Silent_p.P2154P|DNAH6_ENST00000602588.1_Silent_p.P175P			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2154	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						TAGGAGCACCGGGAAACAAAC	0.373																																					p.P2154P		.											.	DNAH6-69	0			c.G6462A						.						91	81	84					2																	84899458		692	1591	2283	SO:0001819	synonymous_variant	1768	exon40			AGCACCGGGAAAC	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.6462G>A	2.37:g.84899458G>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	45	37	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			.		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84899458	G	A	84899458	2	1	27	1	0	0	0	0	0	0	0	1	4619	1103	39	1		1	DNAH6	2	84899458	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14584248	84899458	158299915	48	4608											
MRPS5	64969	ucsc.edu	37	chr2	95766639	95766639	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactgctctgttctttgCctgaaaggaaaatgtttttc	9	7	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:95766639C>T	ENST00000272418.2	-	9	1019	c.811G>A	c.(811-813)Gca>Aca	p.A271T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	271	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTTCTTTGCCTGAAAGGAA	0.269																																					p.A271T		.											.	MRPS5-92	0			c.G811A						.						97	95	96					2																	95766639		2202	4300	6502	SO:0001630	splice_region_variant	64969	exon9			TCTTTGCCTGAAA	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.811-1G>A	2.37:g.95766639C>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_031902	0	0	0	0	0	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041781	0.93685	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.68	5.68	0.88126	Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92988	0.6412	9	0.87932	D	0	-17.1672	17.6445	0.88145	0.0:1.0:0.0:0.0	.	271	P82675	RT05_HUMAN	T	271	.	ENSP00000272418:A271T	A	-	1	0	MRPS5	95130366	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.686000	0.74548	2.838000	0.97847	0.591000	0.81541	GCA	.		0.269	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	Missense_Mutation	T	95766639	C	T	95766639	5	4	27	1	0	0	0	0	0	0	1	0	9884	753	26	3	497	3	MRPS5	2	95766639	Splice_Site	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	10867181	95766639	147432734	49	4609											
INPP4A	3631	broad.mit.edu	37	chr2	99155995	99155995	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcatcccacctcagtgttCggtggtgccatctgccgcat	10	14	3	0	rs376566589		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:99155995C>T	ENST00000523221.1	+	8	675	c.675C>T	c.(673-675)ttC>ttT	p.F225F	INPP4A_ENST00000074304.5_Silent_p.F225F|INPP4A_ENST00000545415.1_Silent_p.F225F|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Silent_p.F225F|INPP4A_ENST00000409540.3_Silent_p.F225F|INPP4A_ENST00000409851.3_Silent_p.F225F			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	225					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCTCAGTGTTCGGTGGTGCCA	0.597													C|||	1	0.000199681	0	0.0014	5008	,	,		6712	0		0	False		,,,				2504	0				p.F225F		.											.	INPP4A-227	0			c.C675T						.	C	,,,	3,4127		0,3,2062	127	121	123		675,675,675,675	-9.4	0.1	2		123	2,8406		0,2,4202	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	,,,	0,5,6264	TT,TC,CC		0.0238,0.0726,0.0399	,,,	225/978,225/973,225/955,225/939	99155995	5,12533	2065	4204	6269	SO:0001819	synonymous_variant	3631	exon10			AGTGTTCGGTGGT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.675C>T	2.37:g.99155995C>T		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	119	5	NM_004027	0	0	0	0	0	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																			.		0.597	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		T	99155995	C	T	99155995	2	4	27	1	0	0	0	0	0	0	0	1	7779	883	31	1		1	INPP4A	2	99155995	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3389356	99155995	144043378	50	4610											
BCL2L11	10018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	111921764	111921764	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacgaatggttatcttaCgactgttacgttacattgtc	7	10	1	0	rs138706378	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:111921764C>T	ENST00000393256.3	+	4	826	c.553C>T	c.(553-555)Cga>Tga	p.R185*	BCL2L11_ENST00000308659.8_Nonsense_Mutation_p.R125*	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GGTTATCTTACGACTGTTACG	0.433																																					p.R185X		.											.	BCL2L11-1083	0			c.C553T						.						137	117	124					2																	111921764		2203	4300	6503	SO:0001587	stop_gained	10018	exon4			ATCTTACGACTGT	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.553C>T	2.37:g.111921764C>T	ENSP00000376943:p.Arg185*	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	113	99	NM_138621	0	0	0	2	2	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Nonsense_Mutation	SNP	ENST00000393256.3	37	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	C	37	6.219749	0.97385	.	.	ENSG00000153094	ENST00000308659;ENST00000393256	.	.	.	5.48	5.48	0.80851	.	0.242208	0.29515	N	0.011939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.15	18.2781	0.90089	0.0:1.0:0.0:0.0	.	.	.	.	X	125;185	.	ENSP00000309226:R125X	R	+	1	2	BCL2L11	111638235	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	3.410000	0.52664	2.744000	0.94065	0.563000	0.77884	CGA	C|0.999;G|0.001		0.433	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			T	111921764	C	T	111921764	4	4	27	1	0	0	0	0	0	1	0	0	1370	528	19	1	692	1	BCL2L11	2	111921764	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	12765769	111921764	131277609	51	4611											
IL1RN	3557	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	113885278	113885278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattcagagacgatctgccGaccctctgggagaaaatcca	9	13	3	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:113885278G>A	ENST00000409930.3	+	1	141	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	IL1RN_ENST00000354115.2_Missense_Mutation_p.R8Q|IL1RN_ENST00000409052.1_5'UTR|IL1RN_ENST00000259206.5_Missense_Mutation_p.R29Q|IL1RN_ENST00000361779.3_5'UTR	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	26					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	ACGATCTGCCGACCCTCTGGG	0.532									Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.R29Q		.											.	IL1RN-92	0			c.G86A						.						78	74	76					2																	113885278		2203	4300	6503	SO:0001583	missense	3557	exon3	Familial Cancer Database	Lichen Sclerosis, Familial	TCTGCCGACCCTC	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.77G>A	2.37:g.113885278G>A	ENSP00000387173:p.Arg26Gln	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	57	50	NM_173841	0	0	0	0	0	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	G	5.282	0.237423	0.10023	.	.	ENSG00000136689	ENST00000259206;ENST00000354115;ENST00000409930	T;T;T	0.40756	1.02;1.06;1.1	5.24	-4.11	0.03928	.	0.804273	0.12013	N	0.507674	T	0.22898	0.0553	L	0.44542	1.39	0.09310	N	1	P;P;B	0.35700	0.516;0.497;0.305	B;B;B	0.24848	0.025;0.056;0.017	T	0.11690	-1.0577	10	0.29301	T	0.29	-7.5346	5.5542	0.17107	0.4463:0.0:0.4058:0.1479	.	26;8;29	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	Q	29;8;26	ENSP00000259206:R29Q;ENSP00000329072:R8Q;ENSP00000387173:R26Q	ENSP00000259206:R29Q	R	+	2	0	IL1RN	113601749	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.195000	0.09546	-0.483000	0.06772	-0.137000	0.14449	CGA	.		0.532	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		A	113885278	G	A	113885278	3	1	27	1	0	0	0	0	1	0	0	0	7692	1058	37	1	160	1	IL1RN	2	113885278	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1963514	113885278	129314095	52	4612											
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	133541906	133541906	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaccaggccagatgaAgggagtagtgtggtggcttc	16	7	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:133541906A>T	ENST00000409261.1	-	14	2851	c.2478T>A	c.(2476-2478)ccT>ccA	p.P826P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.P826P|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	826										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCCAGATGAAGGGAGTAGTG	0.473																																					p.P826P		.											.	.	0			c.T2478A						.						161	163	163					2																	133541906		1906	4122	6028	SO:0001819	synonymous_variant	344148	exon14			AGATGAAGGGAGT	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2478T>A	2.37:g.133541906A>T		Somatic	157	1		WXS	Illumina GAIIx	Phase_I	116	111	NM_207363	0	0	0	1	1	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																			.		0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133541906	A	T	133541906	2	4	27	1	0	0	0	0	0	0	0	1	10262	59	3	5		5	NCKAP5	2	133541906	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	19656628	133541906	109657467	53	4613											
DLX1	1745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	172951487	172951487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttattccagtttgcagtTgcaggctttgaaccggaggt	12	7	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:172951487T>C	ENST00000361725.4	+	2	871	c.419T>C	c.(418-420)tTg>tCg	p.L140S	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	140					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGTTTGCAGTTGCAGGCTTTG	0.552																																					p.L140S		.											.	DLX1-90	0			c.T419C						.						158	168	165					2																	172951487		2203	4300	6503	SO:0001583	missense	1745	exon2			TGCAGTTGCAGGC	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"Homeoboxes / ANTP class : NKL subclass"	2914	protein-coding gene	gene with protein product		600029	"distal-less homeo box 1"			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.419T>C	2.37:g.172951487T>C	ENSP00000354478:p.Leu140Ser	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	107	97	NM_178120	0	0	0	0	0	D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Missense_Mutation	SNP	ENST00000361725.4	37	CCDS2247.2	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795252	0.70452	.	.	ENSG00000144355	ENST00000361609;ENST00000469444;ENST00000361725	D;D;D	0.97303	-4.33;-4.33;-4.33	5.41	5.41	0.78517	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.967;1.0	D	0.99790	1.1031	10	0.87932	D	0	-13.6176	15.7277	0.77774	0.0:0.0:0.0:1.0	.	140;140	F8VXJ2;P56177	.;DLX1_HUMAN	S	140	ENSP00000354865:L140S;ENSP00000448827:L140S;ENSP00000354478:L140S	ENSP00000354865:L140S	L	+	2	0	DLX1	172659733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.961000	0.87903	2.169000	0.68431	0.459000	0.35465	TTG	.		0.552	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		C	172951487	T	C	172951487	3	2	27	1	0	0	0	0	1	0	0	0	4584	1821	63	4	425	4	DLX1	2	172951487	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	39409581	172951487	70247886	54	4614											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179592882	179592882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcatctcctgctacatTtgacactttgcatgtgtaat	6	10	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:179592882T>C	ENST00000591111.1	-	65	18942	c.18718A>G	c.(18718-18720)Aat>Gat	p.N6240D	TTN_ENST00000589042.1_Missense_Mutation_p.N6557D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N5313D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13017	Ig-like 43.				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)			CCTGCTACATTTGACACTTTG	0.373																																					p.N6557D		.											.	TTN-636	0			c.A19669G						.						57	56	56					2																	179592882		1942	4155	6097	SO:0001583	missense	7273	exon67			CTACATTTGACAC	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.18718A>G	2.37:g.179592882T>C	ENSP00000465570:p.Asn6240Asp	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	98	92	NM_001267550	0	0	0	0	0	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	13.21	2.168261	0.38315	.	.	ENSG00000155657	ENST00000342992	T	0.59224	0.28	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85712	0.5760	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91298	0.5064	9	0.87932	D	0	.	16.3892	0.83528	0.0:0.0:0.0:1.0	.	6240	Q8WZ42	TITIN_HUMAN	D	5313	ENSP00000343764:N5313D	ENSP00000343764:N5313D	N	-	1	0	TTN	179301127	1.000000	0.71417	0.962000	0.40283	0.987000	0.75469	7.841000	0.86834	2.330000	0.79161	0.477000	0.44152	AAT	.		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179592882	T	C	179592882	3	2	27	1	0	0	0	0	1	0	0	0	16784	1841	64	4	85044	4	TTN	2	179592882	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	6641395	179592882	63606491	55	4615											
COL5A2	1290	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	189948711	189948711	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgagtataaacttaccGgagatcctgcaaatcccact	7	10	0	2	rs540573303		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:189948711G>A	ENST00000374866.3	-	12	1125	c.851C>T	c.(850-852)cCg>cTg	p.P284L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	284					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TAAACTTACCGGAGATCCTGC	0.353													G|||	1	0.000199681	0	0	5008	,	,		16978	0.001		0	False		,,,				2504	0				p.P284L		.											.	COL5A2-92	0			c.C851T						.						91	89	89					2																	189948711		2203	4300	6503	SO:0001630	splice_region_variant	1290	exon12			CTTACCGGAGATC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.852+1C>T	2.37:g.189948711G>A		Somatic	42	1		WXS	Illumina GAIIx	Phase_I	35	34	NM_000393	0	0	0	0	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717646	0.68844	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96685	-4.09	5.31	4.44	0.53790	.	0.124826	0.36338	N	0.002644	D	0.97142	0.9066	M	0.63169	1.94	0.80722	D	1	B;D	0.89917	0.382;1.0	B;D	0.76575	0.043;0.988	D	0.96626	0.9463	9	.	.	.	.	11.4688	0.50254	0.084:0.0:0.916:0.0	.	101;284	Q5PR22;P05997	.;CO5A2_HUMAN	L	284;101	ENSP00000364000:P284L	.	P	-	2	0	COL5A2	189656956	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.890000	0.48609	1.474000	0.48178	-0.143000	0.13931	CCG	.		0.353	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	A	189948711	G	A	189948711	5	1	27	1	0	0	0	0	0	0	1	0	3704	1130	39	1	3820	1	COL5A2	2	189948711	Splice_Site	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	10355829	189948711	53250662	56	4616											
MFSD6	54842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcttcatcgtcttcggcGttctcatgaccatggccttg	9	13	4	1	rs554501896		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		23425	0		0	False		,,,				2504	0				p.V377I		.											.	MFSD6-92	0			c.G1129A						.						83	70	74					2																	191301884		2203	4300	6503	SO:0001583	missense	54842	exon3			TTCGGCGTTCTCA		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1129G>A	2.37:g.191301884G>A	ENSP00000376141:p.Val377Ile	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	159	131	NM_017694	0	0	2	28	26	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376776	0.82682	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80304	-1.36;-1.36	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.62955	0.909	T	0.81564	-0.0875	10	0.38643	T	0.18	-28.433	19.848	0.96722	0.0:0.0:1.0:0.0	.	377	Q6ZSS7	MFSD6_HUMAN	I	377	ENSP00000376141:V377I;ENSP00000281416:V377I	ENSP00000281416:V377I	V	+	1	0	MFSD6	191010129	1.000000	0.71417	0.933000	0.37362	0.839000	0.47603	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTT	.		0.512	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			A	191301884	G	A	191301884	3	1	27	1	0	0	0	0	1	0	0	0	9573	1145	40	1	1131	1	MFSD6	2	191301884	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1353173	191301884	51897489	57	4617											
CNTN6	27255	broad.mit.edu	37	chr3	1415404	1415404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatatttactattcagActcggacaccattttctgtg	5	9	3	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:1415404A>G	ENST00000446702.2	+	15	2530	c.1903A>G	c.(1903-1905)Act>Gct	p.T635A	CNTN6_ENST00000539053.1_Missense_Mutation_p.T563A|CNTN6_ENST00000350110.2_Missense_Mutation_p.T635A			Q9UQ52	CNTN6_HUMAN	contactin 6	635	Fibronectin type-III 1. {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)		TACTATTCAGACTCGGACACC	0.388																																					p.T635A		.											.	CNTN6-345	0			c.A1903G						.						73	76	75					3																	1415404		2203	4300	6503	SO:0001583	missense	27255	exon15			ATTCAGACTCGGA	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.1903A>G	3.37:g.1415404A>G	ENSP00000407822:p.Thr635Ala	Somatic	244	0		WXS	Illumina GAIIx	Phase_I	201	5	NM_014461	0	0	0	0	0	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	2.181	-0.387610	0.04932	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56444	0.46;0.46;0.46	4.77	2.52	0.30459	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.236189	0.29342	N	0.012428	T	0.18425	0.0442	N	0.01235	-0.94	0.33736	D	0.618852	B	0.06786	0.001	B	0.08055	0.003	T	0.13899	-1.0492	10	0.12103	T	0.63	.	6.1226	0.20161	0.6358:0.0:0.3642:0.0	.	635	Q9UQ52	CNTN6_HUMAN	A	635;563;635	ENSP00000407822:T635A;ENSP00000442791:T563A;ENSP00000341882:T635A	ENSP00000341882:T635A	T	+	1	0	CNTN6	1390404	1.000000	0.71417	0.774000	0.31636	0.980000	0.70556	3.921000	0.56454	0.343000	0.23821	0.482000	0.46254	ACT	.		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		G	1415404	A	G	1415404	3	3	27	1	0	0	0	0	1	0	0	0	3652	275	10	4	1957	4	CNTN6	3	1415404	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10		1415404	196607026	58	4618											
NUP210	23225	bcgsc.ca	37	chr3	13368892	13368892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgactgtgcggacaacGcaggtgttgttggtggggcc	17	9	0	1	rs2271509	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:13368892G>A	ENST00000254508.5	-	32	4414	c.4332C>T	c.(4330-4332)tgC>tgT	p.C1444C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1444					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCGGACAACGCAGGTGTTGT	0.612													G|||	1985	0.396366	0.4592	0.3775	5008	,	,		19707	0.3016		0.4891	False		,,,				2504	0.3272				p.C1444C		.											.	NUP210-256	0			c.C4332T						.	G		2074,2332	564.7+/-381.5	474,1126,603	53	41	45		4332	1.7	0.1	3	dbSNP_100	45	4402,4198	577.9+/-390.6	1134,2134,1032	no	coding-synonymous	NUP210	NM_024923.2		1608,3260,1635	AA,AG,GG		48.814,47.0722,49.7924		1444/1888	13368892	6476,6530	2203	4300	6503	SO:0001819	synonymous_variant	23225	exon32			GACAACGCAGGTG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4332C>T	3.37:g.13368892G>A		Somatic	265	2		WXS	Illumina GAIIx	Phase_I	209	7	NM_024923	0	0	9	9	0	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			G|0.541;A|0.459		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13368892	G	A	13368892	2	1	27	1	0	0	0	0	0	0	0	1	10799	1079	38	1		1	NUP210	3	13368892	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	11953488	13368892	184653538	59	4619											
C3orf20	84077	ucsc.edu;bcgsc.ca	37	chr3	14724408	14724408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccttcagtgcctacccCgtccgacatcttgggcctgg	10	16	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:14724408C>T	ENST00000253697.3	+	3	640	c.188C>T	c.(187-189)cCg>cTg	p.P63L	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	63						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTGCCTACCCCGTCCGACATC	0.537																																					p.P63L		.											.	C3orf20-94	0			c.C188T						.						118	117	118					3																	14724408		2203	4300	6503	SO:0001583	missense	84077	exon3			CTACCCCGTCCGA	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.188C>T	3.37:g.14724408C>T	ENSP00000253697:p.Pro63Leu	Somatic	187	2		WXS	Illumina GAIIx	Phase_I	130	124	NM_032137	0	0	0	0	0	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375355	0.42105	.	.	ENSG00000131379	ENST00000253697	T	0.06933	3.24	5.28	4.38	0.52667	.	1.053900	0.07482	N	0.904118	T	0.07773	0.0195	L	0.29908	0.895	0.18873	N	0.999989	D	0.54397	0.966	B	0.40534	0.332	T	0.33137	-0.9880	10	0.72032	D	0.01	-4.8664	7.3407	0.26635	0.0:0.738:0.1722:0.0898	.	63	Q8ND61	CC020_HUMAN	L	63	ENSP00000253697:P63L	ENSP00000253697:P63L	P	+	2	0	C3orf20	14699412	0.001000	0.12720	0.004000	0.12327	0.027000	0.11550	1.068000	0.30629	1.183000	0.42943	0.591000	0.81541	CCG	.		0.537	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		T	14724408	C	T	14724408	3	4	27	1	0	0	0	0	1	0	0	0	2220	652	23	1	190	1	C3orf20	3	14724408	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1355516	14724408	183298022	60	4620											
SUSD5	26032	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	33216542	33216542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggatggtgtgtgggaacGaaggcgggtctccacacggc	18	9	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:33216542G>A	ENST00000309558.3	-	4	851	c.434C>T	c.(433-435)tCg>tTg	p.S145L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	145	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGTGGGAACGAAGGCGGGTC	0.547																																					p.S145L		.											.	SUSD5-24	0			c.C434T						.						60	66	64					3																	33216542		1998	4161	6159	SO:0001583	missense	26032	exon4			GGGAACGAAGGCG	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.434C>T	3.37:g.33216542G>A	ENSP00000308727:p.Ser145Leu	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	119	103	NM_015551	0	0	0	1	1		Missense_Mutation	SNP	ENST00000309558.3	37	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664620	0.88251	.	.	ENSG00000173705	ENST00000309558	T	0.65916	-0.18	5.72	4.8	0.61643	C-type lectin fold (1);Complement control module (2);Sushi/SCR/CCP (3);	0.206160	0.42548	D	0.000697	T	0.65502	0.2697	L	0.27053	0.805	0.47819	D	0.999521	D	0.76494	0.999	P	0.61275	0.886	T	0.69105	-0.5233	10	0.87932	D	0	-8.4353	14.5751	0.68240	0.0:0.1454:0.8546:0.0	.	145	O60279	SUSD5_HUMAN	L	145	ENSP00000308727:S145L	ENSP00000308727:S145L	S	-	2	0	SUSD5	33191546	1.000000	0.71417	0.809000	0.32408	0.855000	0.48748	5.956000	0.70315	2.706000	0.92434	0.561000	0.74099	TCG	.		0.547	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		A	33216542	G	A	33216542	3	1	27	1	0	0	0	0	1	0	0	0	15458	1059	37	1	1463	1	SUSD5	3	33216542	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	18492134	33216542	164805888	61	4621											
TRANK1	9881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	36873092	36873092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcataatagaggccaCggactatggaccctttggtg	10	12	1	1	rs200132397		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:36873092C>T	ENST00000429976.2	-	21	8097	c.7850G>A	c.(7849-7851)cGt>cAt	p.R2617H	TRANK1_ENST00000301807.6_Missense_Mutation_p.R2067H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R2067H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2617							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						ATAGAGGCCACGGACTATGGA	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		20077	0		0	False		,,,				2504	0				p.R2617H		.											.	TRANK1-24	0			c.G7850A						.	C	HIS/ARG	3,3979		0,3,1988	57	61	60		7850	-0.4	0	3		60	1,8317		0,1,4158	yes	missense	TRANK1	NM_014831.2	29	0,4,6146	TT,TC,CC		0.012,0.0753,0.0325	probably-damaging	2617/2926	36873092	4,12296	1991	4159	6150	SO:0001583	missense	9881	exon21			AGGCCACGGACTA	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.7850G>A	3.37:g.36873092C>T	ENSP00000416168:p.Arg2617His	Somatic	248	2		WXS	Illumina GAIIx	Phase_I	177	161	NM_014831	0	0	0	4	4	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798210	0.31777	7.53E-4	1.2E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.44482	0.92;1.35;0.92	5.6	-0.385	0.12470	.	0.344590	0.24810	N	0.035418	T	0.39627	0.1085	M	0.69823	2.125	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.45600	-0.9250	10	0.87932	D	0	.	11.0595	0.47940	0.0:0.622:0.0:0.378	.	2617	O15050	TRNK1_HUMAN	H	2067;2617;2067	ENSP00000416826:R2067H;ENSP00000416168:R2617H;ENSP00000301807:R2067H	ENSP00000301807:R2067H	R	-	2	0	TRANK1	36848096	0.006000	0.16342	0.003000	0.11579	0.710000	0.40934	0.480000	0.22244	-0.056000	0.13221	0.561000	0.74099	CGT	.		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36873092	C	T	36873092	3	4	27	1	0	0	0	0	1	0	0	0	16502	536	19	1	939	1	TRANK1	3	36873092	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3656550	36873092	161149338	62	4622											
DLEC1	9940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38080909	38080909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcgcagcccggccccgcCgcctcacgcagcttgcgctg	12	20	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:38080909C>T	ENST00000308059.6	+	1	214	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	DLEC1_ENST00000346219.3_Missense_Mutation_p.R65C|DLEC1_ENST00000452631.2_Missense_Mutation_p.R65C					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)		CCGGCCCCGCCGCCTCACGCA	0.677																																					p.R65C		.											.	DLEC1-161	0			c.C193T						.						36	43	41					3																	38080909		1995	4175	6170	SO:0001583	missense	9940	exon1			CCCCGCCGCCTCA	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.193C>T	3.37:g.38080909C>T	ENSP00000308597:p.Arg65Cys	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	168	156	NM_007337	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457613	0.63401	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.07567	3.22;3.18;3.45	5.7	1.69	0.24217	.	0.000000	0.36740	N	0.002438	T	0.14657	0.0354	L	0.50333	1.59	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60886	0.88;0.88;0.88	T	0.05484	-1.0882	10	0.66056	D	0.02	-7.7957	4.6724	0.12696	0.3015:0.5337:0.0:0.1648	.	65;65;65	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	C	65	ENSP00000308597:R65C;ENSP00000315914:R65C;ENSP00000410427:R65C	ENSP00000308597:R65C	R	+	1	0	DLEC1	38055913	0.012000	0.17670	0.045000	0.18777	0.022000	0.10575	0.126000	0.15769	0.318000	0.23185	0.609000	0.83330	CGC	.		0.677	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		T	38080909	C	T	38080909	3	4	27	1	0	0	0	0	1	0	0	0	4566	652	23	1	195	1	DLEC1	3	38080909	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1207817	38080909	159941521	63	4623											
RPL14	9045	bcgsc.ca	37	chr3	40503520	40503520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacctggtactaagggtActgctgctgctgctgctgct	12	11	0	0	rs147295890|rs369485042|rs200018880|rs57354599|rs111899316	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:40503520A>G	ENST00000396203.2	+	6	577	c.445A>G	c.(445-447)Act>Gct	p.T149A	RPL14_ENST00000338970.6_Missense_Mutation_p.T149A|RPL14_ENST00000416518.1_3'UTR	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	149					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TACTAAGGGTActgctgctgc	0.473																																					p.T149A		.											.	RPL14-90	0			c.A445G						.						12	14	14					3																	40503520		2137	4163	6300	SO:0001583	missense	9045	exon6			AAGGGTACTGCTG	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.445A>G	3.37:g.40503520A>G	ENSP00000379506:p.Thr149Ala	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	58	7	NM_003973	0	1	388	389	0	Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Missense_Mutation	SNP	ENST00000396203.2	37	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.452618	0.01080	.	.	ENSG00000188846	ENST00000338970;ENST00000396203	T;T	0.40476	1.03;1.03	4.36	1.47	0.22746	.	1.204380	0.06373	N	0.713829	T	0.10380	0.0254	N	0.00260	-1.75	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31110	-0.9955	8	0.02654	T	1	.	7.0458	0.25044	0.3279:0.0:0.6721:0.0	.	149	P50914	RL14_HUMAN	A	149	ENSP00000345156:T149A;ENSP00000379506:T149A	ENSP00000345156:T149A	T	+	1	0	RPL14	40478524	0.002000	0.14202	0.202000	0.23494	0.365000	0.29674	0.035000	0.13797	0.400000	0.25396	-0.250000	0.11733	ACT	A|0.962;G|0.038		0.473	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		G	40503520	A	G	40503520	3	3	27	1	0	0	0	0	1	0	0	0	13606	391	14	4	474	4	RPL14	3	40503520	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	2422611	40503520	157518910	64	4624											
PTPN23	25930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47453643	47453643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtgcacgcacattAcctgcatcagcggccgctgc	12	15	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:47453643A>G	ENST00000265562.4	+	22	4210	c.4133A>G	c.(4132-4134)tAc>tGc	p.Y1378C	PTPN23_ENST00000431726.1_Missense_Mutation_p.Y1252C	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1378	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGCACATTACCTGCATCAG	0.622																																					p.Y1378C		.											.	PTPN23-227	0			c.A4133G						.						55	52	53					3																	47453643		2203	4300	6503	SO:0001583	missense	25930	exon22			CACATTACCTGCA	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4133A>G	3.37:g.47453643A>G	ENSP00000265562:p.Tyr1378Cys	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	113	102	NM_015466	0	0	3	22	19	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688717	0.48097	.	.	ENSG00000076201	ENST00000265562	D	0.83419	-1.72	4.22	1.56	0.23342	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.260060	0.32244	N	0.006372	T	0.74884	0.3775	L	0.52126	1.63	0.48901	D	0.999721	B	0.12013	0.005	B	0.20384	0.029	T	0.68484	-0.5396	10	0.56958	D	0.05	-6.4884	5.9704	0.19349	0.7426:0.1646:0.0928:0.0	.	1378	Q9H3S7	PTN23_HUMAN	C	1378	ENSP00000265562:Y1378C	ENSP00000265562:Y1378C	Y	+	2	0	PTPN23	47428647	1.000000	0.71417	0.966000	0.40874	0.801000	0.45260	2.580000	0.46068	0.587000	0.29643	0.460000	0.39030	TAC	.		0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		G	47453643	A	G	47453643	3	3	27	1	0	0	0	0	1	0	0	0	12833	391	14	4	4219	4	PTPN23	3	47453643	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	6950123	47453643	150568787	65	4625											
AMT	275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49459642	49459642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagactccaacccgcaaaCgccaccattttcccgccgtg	8	18	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:49459642C>T	ENST00000273588.3	-	2	455	c.153G>A	c.(151-153)gcG>gcA	p.A51A	AMT_ENST00000546031.1_Intron|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000458307.2_Silent_p.A51A|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.A51A|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000538581.1_Intron	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	51					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	AACCCGCAAACGCCACCATTT	0.627																																					p.A51A		.											.	AMT-91	0			c.G153A						.						109	113	112					3																	49459642		2203	4300	6503	SO:0001819	synonymous_variant	275	exon2			CGCAAACGCCACC	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.153G>A	3.37:g.49459642C>T		Somatic	238	1		WXS	Illumina GAIIx	Phase_I	128	112	NM_001164712	0	0	0	1	1	A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	3.545	-0.092921	0.07053	.	.	ENSG00000145020	ENST00000427987	.	.	.	5.07	-5.57	0.02521	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38607	-0.9653	4	.	.	.	-17.6642	3.9189	0.09234	0.1047:0.2768:0.1036:0.5149	.	.	.	.	I	49	.	.	V	-	1	0	AMT	49434646	0.000000	0.05858	0.009000	0.14445	0.038000	0.13279	-2.758000	0.00787	-1.009000	0.03400	0.655000	0.94253	GTT	.		0.627	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		T	49459642	C	T	49459642	2	4	27	1	0	0	0	0	0	0	0	1	589	523	19	1		1	AMT	3	49459642	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2005999	49459642	148562788	66	4626											
SEMA3F	6405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	50211681	50211681	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggcgagtgtgggaacttCgtcaggctcatccagccctg	14	12	2	0	rs200273983		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:50211681C>T	ENST00000002829.3	+	5	838	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SEMA3F_ENST00000413852.1_Silent_p.F50F|SEMA3F_ENST00000434342.1_Silent_p.F118F|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	118	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGGGAACTTCGTCAGGCTCA	0.647																																					p.F118F		.											.	SEMA3F-279	0			c.C354T						.	C		0,4406		0,0,2203	71	68	69		354	3.6	1	3		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA3F	NM_004186.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		118/786	50211681	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6405	exon5			GAACTTCGTCAGG	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.354C>T	3.37:g.50211681C>T		Somatic	367	1		WXS	Illumina GAIIx	Phase_I	240	210	NM_004186	0	0	5	6	1	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	CCDS2811.1																																																																																			C|0.999;T|0.001		0.647	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		T	50211681	C	T	50211681	2	4	27	1	0	0	0	0	0	0	0	1	14074	883	31	1		1	SEMA3F	3	50211681	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	752039	50211681	147810749	67	4627											
DNAH1	25981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52425313	52425313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgggcgaggagctagAcccagccctggagccagtgc	16	12	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:52425313A>G	ENST00000420323.2	+	62	10121	c.9860A>G	c.(9859-9861)gAc>gGc	p.D3287G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3352	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGAGCTAGACCCAGCCCTG	0.627																																					p.D3287G		.											.	DNAH1-67	0			c.A9860G						.						28	32	31					3																	52425313		2162	4251	6413	SO:0001583	missense	25981	exon62			AGCTAGACCCAGC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9860A>G	3.37:g.52425313A>G	ENSP00000401514:p.Asp3287Gly	Somatic	253	1		WXS	Illumina GAIIx	Phase_I	145	131	NM_015512	0	0	0	6	6	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126612	0.56721	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.34072	1.38	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000003	T	0.75686	0.3883	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.86269	0.1660	10	0.87932	D	0	.	14.109	0.65111	1.0:0.0:0.0:0.0	.	3287;3352	C9JXH6;Q9P2D7-2	.;.	G	3287;40	ENSP00000401514:D3287G	ENSP00000273600:D40G	D	+	2	0	DNAH1	52400353	1.000000	0.71417	0.974000	0.42286	0.037000	0.13140	9.025000	0.93694	1.931000	0.55961	0.533000	0.62120	GAC	.		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52425313	A	G	52425313	3	3	27	1	0	0	0	0	1	0	0	0	4611	275	10	4	10102	4	DNAH1	3	52425313	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	2213632	52425313	145597117	68	4628											
NISCH	11188	broad.mit.edu	37	chr3	52522397	52522397	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagctgtacccagcctcgGggcgcctttgctgatggcca	13	15	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:52522397G>T	ENST00000479054.1	+	17	2961	c.2889G>T	c.(2887-2889)cgG>cgT	p.R963R	NISCH_ENST00000345716.4_Silent_p.R963R			Q9Y2I1	NISCH_HUMAN	nischarin	963					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)	CCCAGCCTCGGGGCGCCTTTG	0.637																																					p.R963R		.											.	NISCH-93	0			c.G2889T						.						66	69	68					3																	52522397		2203	4300	6503	SO:0001819	synonymous_variant	11188	exon16			GCCTCGGGGCGCC	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.2889G>T	3.37:g.52522397G>T		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	112	4	NM_007184	0	0	33	33	0	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																			.		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		T	52522397	G	T	52522397	2	4	27	1	0	0	0	0	0	0	0	1	10471	1219	43	3		3	NISCH	3	52522397	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	97084	52522397	145500033	69	4629											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52536666	52536666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtgcagctgtgtgcacgGagtgtgcaaccatgggccac	15	10	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:52536666G>A	ENST00000321725.6	+	6	582	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	169	EGF-like 2. {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)		TGTGTGCACGGAGTGTGCAAC	0.612																																					p.G169E		.											.	STAB1-139	0			c.G506A						.						101	84	90					3																	52536666		2203	4300	6503	SO:0001583	missense	23166	exon6			TGCACGGAGTGTG	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.506G>A	3.37:g.52536666G>A	ENSP00000312946:p.Gly169Glu	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	115	99	NM_015136	0	0	0	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936395	0.73442	.	.	ENSG00000010327	ENST00000321725	T	0.55588	0.51	4.47	4.47	0.54385	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77974	0.4211	M	0.94063	3.49	0.45733	D	0.998637	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	D	0.83866	0.0271	10	0.87932	D	0	.	13.025	0.58810	0.0:0.0:1.0:0.0	.	169;169	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	169	ENSP00000312946:G169E	ENSP00000312946:G169E	G	+	2	0	STAB1	52511706	1.000000	0.71417	0.174000	0.22961	0.125000	0.20455	6.767000	0.74975	2.210000	0.71456	0.561000	0.74099	GGA	.		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52536666	G	A	52536666	3	1	27	1	0	0	0	0	1	0	0	0	15284	1174	41	3	528	3	STAB1	3	52536666	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14269	52536666	145485764	70	4630											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52553340	52553340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccatgaggccgtgaacGgcatcctgcacttcattgac	11	13	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:52553340G>A	ENST00000321725.6	+	49	5171	c.5095G>A	c.(5095-5097)Ggc>Agc	p.G1699S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1699	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, 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)		GGCCGTGAACGGCATCCTGCA	0.642																																					p.G1699S		.											.	STAB1-139	0			c.G5095A						.						127	128	128					3																	52553340		2203	4299	6502	SO:0001583	missense	23166	exon49			GTGAACGGCATCC	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.5095G>A	3.37:g.52553340G>A	ENSP00000312946:p.Gly1699Ser	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	161	152	NM_015136	0	0	4	4	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540033	0.85917	.	.	ENSG00000010327	ENST00000321725	D	0.93811	-3.29	5.5	5.5	0.81552	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97700	1.0184	10	0.87932	D	0	.	17.5833	0.87973	0.0:0.0:1.0:0.0	.	1699	Q9NY15	STAB1_HUMAN	S	1699	ENSP00000312946:G1699S	ENSP00000312946:G1699S	G	+	1	0	STAB1	52528380	1.000000	0.71417	0.687000	0.30102	0.002000	0.02628	4.596000	0.61055	2.574000	0.86865	0.655000	0.94253	GGC	.		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52553340	G	A	52553340	3	1	27	1	0	0	0	0	1	0	0	0	15284	1116	39	1	5289	1	STAB1	3	52553340	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	16674	52553340	145469090	71	4631											
ITIH1	3697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52820426	52820426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctctgggcctacctcaCcatccaggagctgctggcca	11	17	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:52820426C>T	ENST00000273283.2	+	13	1733	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ITIH1_ENST00000537050.1_Missense_Mutation_p.T282I|ITIH1_ENST00000540715.1_Missense_Mutation_p.T428I|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.T570I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	570	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCTACCTCACCATCCAGGAG	0.632																																					p.T570I		.											.	ITIH1-93	0			c.C1709T						.						29	24	26					3																	52820426		2201	4295	6496	SO:0001583	missense	3697	exon13			ACCTCACCATCCA		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.1709C>T	3.37:g.52820426C>T	ENSP00000273283:p.Thr570Ile	Somatic	300	0		WXS	Illumina GAIIx	Phase_I	184	177	NM_002215	0	0	0	0	0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710258	0.89018	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.92219	3.285	0.49798	D	0.999821	D;P;D	0.89917	1.0;0.911;1.0	D;P;D	0.97110	1.0;0.609;0.998	D	0.86123	0.1570	10	0.87932	D	0	-37.2167	15.7613	0.78082	0.0:1.0:0.0:0.0	.	428;171;570	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	I	570;570;428;282;123	ENSP00000442584:T570I;ENSP00000273283:T570I;ENSP00000443973:T428I;ENSP00000443847:T282I;ENSP00000395836:T123I	ENSP00000273283:T570I	T	+	2	0	ITIH1	52795466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.041000	0.76558	2.480000	0.83734	0.462000	0.41574	ACC	.		0.632	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52820426	C	T	52820426	3	4	27	1	0	0	0	0	1	0	0	0	7930	507	18	3	1759	3	ITIH1	3	52820426	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	267086	52820426	145202004	72	4632											
PRICKLE2	166336	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	64085464	64085464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaactgactctgcgctccGgaactgcatggacgagttaa	12	11	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:64085464G>A	ENST00000295902.6	-	8	2383	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R656W|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	600					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTGCGCTCCGGAACTGCATG	0.547																																					p.R600W		.											.	PRICKLE2-95	0			c.C1798T						.						133	132	132					3																	64085464		2203	4300	6503	SO:0001583	missense	166336	exon8			CGCTCCGGAACTG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1798C>T	3.37:g.64085464G>A	ENSP00000295902:p.Arg600Trp	Somatic	228	0		WXS	Illumina GAIIx	Phase_I	138	123	NM_198859	0	0	0	1	1	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218452	0.58560	.	.	ENSG00000163637	ENST00000295902	D	0.87334	-2.24	5.62	2.73	0.32206	.	0.000000	0.64402	D	0.000003	D	0.89203	0.6648	M	0.62723	1.935	0.48511	D	0.999668	D	0.61697	0.99	P	0.52881	0.712	D	0.88984	0.3410	10	0.87932	D	0	-33.3037	14.8286	0.70132	0.0:0.0:0.4936:0.5064	.	600	Q7Z3G6	PRIC2_HUMAN	W	600	ENSP00000295902:R600W	ENSP00000295902:R600W	R	-	1	2	PRICKLE2	64060504	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	3.083000	0.50136	0.265000	0.21872	-0.282000	0.10007	CGG	.		0.547	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		A	64085464	G	A	64085464	3	1	27	1	0	0	0	0	1	0	0	0	12529	1115	39	1	740	1	PRICKLE2	3	64085464	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	11265038	64085464	133936966	73	4633											
FILIP1L	11259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	99643213	99643213	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagctgtcccaggattcGtctgtaagattctttatgtt	8	7	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:99643213G>A	ENST00000354552.3	-	4	936	c.466C>T	c.(466-468)Cga>Tga	p.R156*	FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.R156*|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Nonsense_Mutation_p.R156*	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	156						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						CCCAGGATTCGTCTGTAAGAT	0.363																																					p.R156X		.											.	FILIP1L-45	0			c.C466T						.						205	188	193					3																	99643213		1829	4081	5910	SO:0001587	stop_gained	11259	exon4			GGATTCGTCTGTA		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.466C>T	3.37:g.99643213G>A	ENSP00000346560:p.Arg156*	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	95	81	NM_182909	0	0	0	0	0	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566144	0.98361	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	.	.	.	5.5	4.61	0.57282	.	0.643413	0.12837	N	0.435166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9477	13.6844	0.62506	0.0:0.0:0.6048:0.3952	.	.	.	.	X	156	.	ENSP00000327880:R156X	R	-	1	2	FILIP1L	101125903	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.225000	0.42954	1.302000	0.44855	0.585000	0.79938	CGA	.		0.363	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		A	99643213	G	A	99643213	4	1	27	1	0	0	0	0	0	1	0	0	5917	1153	40	1	2974	1	FILIP1L	3	99643213	Nonsense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	35557749	99643213	98379217	74	4634											
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	108174589	108174589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttttctggttaccttagtGattccaaatcggtactgggt	10	7	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:108174589G>C	ENST00000273353.3	-	21	2372	c.2316C>G	c.(2314-2316)atC>atG	p.I772M	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	772	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						TTACCTTAGTGATTCCAAATC	0.423																																					p.I772M		.											.	MYH15-73	0			c.C2316G						.						191	181	184					3																	108174589		1848	4100	5948	SO:0001583	missense	22989	exon21			CTTAGTGATTCCA	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.2316C>G	3.37:g.108174589G>C	ENSP00000273353:p.Ile772Met	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	90	84	NM_014981	0	0	0	0	0		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052825	0.75960	.	.	ENSG00000144821	ENST00000273353	D	0.87334	-2.24	6.06	4.25	0.50352	Myosin head, motor domain (2);	.	.	.	.	D	0.89451	0.6719	L	0.52126	1.63	0.24930	N	0.991921	P	0.52463	0.953	P	0.57425	0.82	T	0.81963	-0.0692	9	0.87932	D	0	.	11.8306	0.52293	0.1921:0.0:0.8079:0.0	.	772	Q9Y2K3	MYH15_HUMAN	M	772	ENSP00000273353:I772M	ENSP00000273353:I772M	I	-	3	3	MYH15	109657279	1.000000	0.71417	0.515000	0.27774	0.996000	0.88848	2.816000	0.48026	1.551000	0.49450	0.655000	0.94253	ATC	.		0.423	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		C	108174589	G	C	108174589	3	2	27	1	0	0	0	0	1	0	0	0	10072	1280	45	3	3612	3	MYH15	3	108174589	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	8531376	108174589	89847841	75	4635											
ZBTB20	26137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	114070578	114070578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacgcagcggtgtgcgCgcagcatgctcccgtggatg	15	14	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:114070578C>T	ENST00000474710.1	-	4	525	c.347G>A	c.(346-348)cGc>cAc	p.R116H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.R43H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R43H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R43H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R43H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R43H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R43H|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	116	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCGGTGTGCGCGCAGCATGCT	0.617																																					p.R116H	NSCLC(69;748 1344 9802 11203 30933)	.											.	ZBTB20-95	0			c.G347A						.						49	47	48					3																	114070578		2203	4300	6503	SO:0001583	missense	26137	exon4			TGTGCGCGCAGCA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.347G>A	3.37:g.114070578C>T	ENSP00000419153:p.Arg116His	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	166	149	NM_001164342	0	0	0	0	0	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331262	0.81690	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.98	5.1	0.69264	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.057005	0.64402	D	0.000001	T	0.76828	0.4042	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79605	-0.1734	10	0.87932	D	0	.	16.5644	0.84575	0.1317:0.8683:0.0:0.0	.	116	Q9HC78	ZBT20_HUMAN	H	43;43;43;43;116;43;43;43	ENSP00000420324:R43H;ENSP00000377375:R43H;ENSP00000418092:R43H;ENSP00000419902:R43H;ENSP00000419153:R116H;ENSP00000349803:R43H;ENSP00000417307:R43H;ENSP00000420684:R43H	ENSP00000349803:R43H	R	-	2	0	ZBTB20	115553268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.516000	0.48900	0.650000	0.86243	CGC	.		0.617	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114070578	C	T	114070578	3	4	27	1	0	0	0	0	1	0	0	0	17577	768	27	1	1886	1	ZBTB20	3	114070578	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5895989	114070578	83951852	76	4636											
SLC12A8	84561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	124854609	124854609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcagttcgggtgaatAtccaatgaaaccatgttctg	10	8	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:124854609A>T	ENST00000393469.4	-	5	689	c.640T>A	c.(640-642)Tat>Aat	p.Y214N	SLC12A8_ENST00000469902.1_Missense_Mutation_p.Y214N|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.Y243N	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	214					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TCGGGTGAATATCCAATGAAA	0.448																																					p.Y214N		.											.	SLC12A8-22	0			c.T640A						.						60	62	62					3																	124854609		1970	4153	6123	SO:0001583	missense	84561	exon6			GTGAATATCCAAT		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.640T>A	3.37:g.124854609A>T	ENSP00000377112:p.Tyr214Asn	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	87	79	NM_024628	0	0	0	1	1	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.018211	0.75275	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826	D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12	5.14	5.14	0.70334	Amino acid permease domain (1);	.	.	.	.	D	0.99177	0.9715	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;0.996	D	0.99349	1.0914	9	0.72032	D	0.01	.	12.5891	0.56434	1.0:0.0:0.0:0.0	.	106;243;214	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	N	214;243;214;96	ENSP00000377112:Y214N;ENSP00000404243:Y243N;ENSP00000418783:Y214N;ENSP00000420197:Y96N	ENSP00000377112:Y214N	Y	-	1	0	SLC12A8	126337299	1.000000	0.71417	0.956000	0.39512	0.868000	0.49771	7.709000	0.84645	2.151000	0.67156	0.449000	0.29647	TAT	.		0.448	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		T	124854609	A	T	124854609	3	4	27	1	0	0	0	0	1	0	0	0	14434	449	16	5	1540	5	SLC12A8	3	124854609	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	10784031	124854609	73167821	77	4637											
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	130124438	130124438	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccttttcttagggagtaCgaggagacacaggaccccaa	11	11	1	1	rs573787224		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:130124438C>T	ENST00000432398.2	+	14	4782	c.4288C>T	c.(4288-4290)Cga>Tga	p.R1430*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.R1430*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1430	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTAGGGAGTACGAGGAGACAC	0.478																																					p.R1430X		.											.	.	0			c.C4288T						.						116	107	110					3																	130124438		692	1591	2283	SO:0001587	stop_gained	256076	exon14			GGAGTACGAGGAG	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4288C>T	3.37:g.130124438C>T	ENSP00000390895:p.Arg1430*	Somatic	309	1		WXS	Illumina GAIIx	Phase_I	159	138	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	45	11.817692	0.99606	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	.	.	.	5.58	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4192	0.60987	0.4129:0.5871:0.0:0.0	.	.	.	.	X	1430	.	ENSP00000265379:R1430X	R	+	1	2	COL6A5	131607128	0.510000	0.26171	0.525000	0.27900	0.178000	0.23041	0.728000	0.26013	0.648000	0.30732	0.555000	0.69702	CGA	.		0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130124438	C	T	130124438	4	4	27	1	0	0	0	0	0	1	0	0	3709	528	19	1	4338	1	COL6A5	3	130124438	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5269829	130124438	67897992	78	4638											
ARMC8	25852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	137942520	137942520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttattgaagcttgcctccGatgcctgcgtaccatcttca	8	12	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:137942520G>A	ENST00000469044.1	+	5	651	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	ARMC8_ENST00000489213.1_Missense_Mutation_p.R85Q|ARMC8_ENST00000538260.1_Missense_Mutation_p.R127Q|ARMC8_ENST00000470821.1_Missense_Mutation_p.R127Q|ARMC8_ENST00000481646.1_Missense_Mutation_p.R113Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R117Q|ARMC8_ENST00000461822.1_Missense_Mutation_p.R127Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R85Q|ARMC8_ENST00000358441.2_Missense_Mutation_p.R113Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R85Q|ARMC8_ENST00000471453.1_Missense_Mutation_p.R113Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	127										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTTGCCTCCGATGCCTGCGT	0.413																																					p.R127Q		.											.	ARMC8-90	0			c.G380A						.						108	102	104					3																	137942520		2203	4300	6503	SO:0001583	missense	25852	exon5			GCCTCCGATGCCT		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.380G>A	3.37:g.137942520G>A	ENSP00000419413:p.Arg127Gln	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	51	39	NM_001267041	0	0	0	9	9	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.847353|4.847353	0.91277|0.91277	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000469860|ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000466749;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.9|5.9	5.03|5.03	0.67393|0.67393	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51736|0.51736	0.1692|0.1692	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.994;1.0;0.998;1.0	.|D;D;D;D;D;D;D	.|0.79108	.|0.927;0.984;0.973;0.921;0.984;0.986;0.992	T|T	0.50651|0.50651	-0.8803|-0.8803	5|10	.|0.41790	.|T	.|0.15	-20.8022|-20.8022	12.8169|12.8169	0.57671|0.57671	0.0787:0.0:0.9213:0.0|0.0787:0.0:0.9213:0.0	.|.	.|85;127;127;127;113;127;113	.|B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.|.;.;.;ARMC8_HUMAN;.;.;.	N|Q	15|113;127;85;127;85;113;85;127;85;113;127;127;127;117	.|ENSP00000420333:R113Q;ENSP00000419413:R127Q;ENSP00000417304:R85Q;ENSP00000418074:R127Q;ENSP00000417699:R85Q;ENSP00000351221:R113Q;ENSP00000418412:R85Q;ENSP00000420706:R127Q;ENSP00000417049:R85Q;ENSP00000420440:R113Q;ENSP00000418405:R127Q;ENSP00000420719:R127Q;ENSP00000441592:R127Q;ENSP00000376778:R117Q	.|ENSP00000351221:R113Q	D|R	+|+	1|2	0|0	ARMC8|ARMC8	139425210|139425210	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.953000|0.953000	0.61014|0.61014	9.835000|9.835000	0.99442|0.99442	1.515000|1.515000	0.48885|0.48885	-0.142000|-0.142000	0.14014|0.14014	GAT|CGA	.		0.413	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		A	137942520	G	A	137942520	3	1	27	1	0	0	0	0	1	0	0	0	958	1058	37	1	356	1	ARMC8	3	137942520	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	7818082	137942520	60079910	79	4639											
PLS1	5357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142408558	142408558	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtggtttcaggcaaTcctaaacttaatttagcttt	8	7	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:142408558T>A	ENST00000337777.3	+	10	1293	c.1080T>A	c.(1078-1080)aaT>aaA	p.N360K	PLS1_ENST00000457734.2_Missense_Mutation_p.N360K|PLS1_ENST00000497002.1_Missense_Mutation_p.N360K	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	360	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTTCAGGCAATCCTAAACTTA	0.413																																					p.N360K		.											.	PLS1-91	0			c.T1080A						.						120	112	114					3																	142408558		2203	4300	6503	SO:0001583	missense	5357	exon10			AGGCAATCCTAAA	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1080T>A	3.37:g.142408558T>A	ENSP00000336831:p.Asn360Lys	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	61	57	NM_001172312	0	0	0	0	0	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092401	0.76756	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95518	-3.73;-3.73;-3.73	5.63	1.5	0.22942	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95550	0.8620	10	0.54805	T	0.06	-22.6394	8.1542	0.31158	0.0:0.4504:0.0:0.5496	.	360	Q14651	PLSI_HUMAN	K	360	ENSP00000387890:N360K;ENSP00000336831:N360K;ENSP00000418700:N360K	ENSP00000336831:N360K	N	+	3	2	PLS1	143891248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.095000	0.41729	0.274000	0.22072	0.533000	0.62120	AAT	.		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		A	142408558	T	A	142408558	3	1	27	1	0	0	0	0	1	0	0	0	12146	1432	50	5	1114	5	PLS1	3	142408558	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	4466038	142408558	55613872	80	4640											
TNIK	23043	ucsc.edu;bcgsc.ca	37	chr3	170789054	170789054	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacggtttaggagcccaagcAtatatttccacagcattctt	7	10	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr3:170789054A>T	ENST00000436636.2	-	29	3851	c.3507T>A	c.(3505-3507)taT>taA	p.Y1169*	TNIK_ENST00000284483.8_Nonsense_Mutation_p.Y1161*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.Y1140*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.Y1106*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.Y1114*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.Y1132*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.Y1121*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.Y1147*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.Y1077*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.Y1085*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1169	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)			GAGCCCAAGCATATATTTCCA	0.308																																					p.Y1169X		.											.	TNIK-550	0			c.T3507A						.						74	69	71					3																	170789054		1812	4067	5879	SO:0001587	stop_gained	23043	exon29			CCAAGCATATATT	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.3507T>A	3.37:g.170789054A>T	ENSP00000399511:p.Tyr1169*	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_015028	0	0	0	0	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	42	9.478230	0.99183	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.89	0.569	0.17340	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2243	0.48875	0.6222:0.0:0.3778:0.0	.	.	.	.	X	1169;1147;1121;1085;1161;1077;1140;1106;1114;1132	.	ENSP00000284483:Y1161X	Y	-	3	2	TNIK	172271748	0.999000	0.42202	0.988000	0.46212	0.977000	0.68977	0.777000	0.26718	-0.115000	0.11915	0.482000	0.46254	TAT	.		0.308	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		T	170789054	A	T	170789054	4	4	27	1	0	0	0	0	0	1	0	0	16360	224	8	5	595	5	TNIK	3	170789054	Nonsense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	28380496	170789054	27233376	81	4641											
MAEA	10296	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1305792	1305792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgagacgctgaacaaacGctttcgcgccgctcagaaga	10	13	1	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:1305792G>A	ENST00000303400.4	+	2	158	c.95G>A	c.(94-96)cGc>cAc	p.R32H	MAEA_ENST00000452175.2_Missense_Mutation_p.R21H|MAEA_ENST00000514708.1_Missense_Mutation_p.R32H|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000510794.1_Missense_Mutation_p.R31H|MAEA_ENST00000505177.2_Missense_Mutation_p.R32H|MAEA_ENST00000264750.6_Missense_Mutation_p.R32H	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	32	Extracellular and involved in cell to cell contact.			R -> C (in Ref. 1; AAP74806). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTGAACAAACGCTTTCGCGCC	0.642																																					p.R32H		.											.	MAEA-91	0			c.G95A						.						75	58	64					4																	1305792		2203	4300	6503	SO:0001583	missense	10296	exon2			ACAAACGCTTTCG	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.95G>A	4.37:g.1305792G>A	ENSP00000302830:p.Arg32His	Somatic	375	2		WXS	Illumina GAIIx	Phase_I	392	178	NM_005882	0	0	15	36	21	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793789	0.90453	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.47528	0.9;0.88;0.84;0.89;0.87;0.88;0.87;0.9	5.95	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.77616	2.38	0.38499	D	0.948175	D;D;D;P;D;D	0.89917	1.0;1.0;0.999;0.549;0.998;0.998	P;D;D;B;D;P	0.69142	0.875;0.962;0.941;0.129;0.941;0.899	T	0.72364	-0.4316	10	0.51188	T	0.08	.	12.8671	0.57946	0.1339:0.0:0.8661:0.0	.	31;32;32;32;32;32	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	H	32;32;32;32;32;32;32;21;32;31	ENSP00000302830:R32H;ENSP00000422215:R32H;ENSP00000421644:R32H;ENSP00000264750:R32H;ENSP00000426903:R32H;ENSP00000411415:R21H;ENSP00000427512:R32H;ENSP00000426807:R31H	ENSP00000264750:R32H	R	+	2	0	MAEA	1295792	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.639000	0.83342	1.514000	0.48869	0.655000	0.94253	CGC	.		0.642	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		A	1305792	G	A	1305792	3	1	27	1	0	0	0	0	1	0	0	0	9189	1087	38	1	101	1	MAEA	4	1305792	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		1305792	189848484	82	4642											
LETM1	3954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaagtctttggtggCgctgcccttggctgccttgt	13	11	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:1836604C>T	ENST00000302787.2	-	5	1140	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	282	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547																																					p.A282T		.											.	LETM1-90	0			c.G844A						.						131	114	120					4																	1836604		2203	4300	6503	SO:0001583	missense	3954	exon5			TGGTGGCGCTGCC	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.844G>A	4.37:g.1836604C>T	ENSP00000305653:p.Ala282Thr	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	163	71	NM_012318	0	0	17	26	9	B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.222550	0.79464	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.45276	0.9	5.2	5.2	0.72013	LETM1-like (1);	0.221262	0.41294	D	0.000910	T	0.41236	0.1150	N	0.19112	0.55	0.43010	D	0.994545	D;P;D	0.61080	0.989;0.954;0.979	P;B;P	0.52758	0.708;0.285;0.59	T	0.16100	-1.0414	10	0.20519	T	0.43	-22.7535	18.7392	0.91767	0.0:1.0:0.0:0.0	.	282;242;282	O95202-3;O95202-2;O95202	.;.;LETM1_HUMAN	T	282;242	ENSP00000305653:A282T	ENSP00000305653:A282T	A	-	1	0	LETM1	1806402	1.000000	0.71417	0.937000	0.37676	0.983000	0.72400	7.229000	0.78088	2.433000	0.82419	0.486000	0.48141	GCC	.		0.547	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			T	1836604	C	T	1836604	3	4	27	1	0	0	0	0	1	0	0	0	8762	768	27	1	1415	1	LETM1	4	1836604	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	530812	1836604	189317672	83	4643											
DOK7	285489	broad.mit.edu	37	chr4	3494664	3494664	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggtgcctcaaggccAccccccaagccgctgcgtcc	12	17	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:3494664A>C	ENST00000340083.5	+	7	1016	c.951A>C	c.(949-951)ccA>ccC	p.P317P	DOK7_ENST00000389653.2_Silent_p.P317P|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	317	Ser-rich.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCAAGGCCACCCCCCAAGC	0.692																																					p.P317P		.											.	DOK7-91	0			c.A951C						.						7	8	7					4																	3494664		2122	4167	6289	SO:0001819	synonymous_variant	285489	exon7			AAGGCCACCCCCC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.951A>C	4.37:g.3494664A>C		Somatic	28	2		WXS	Illumina GAIIx	Phase_I	116	23	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	CCDS3370.2																																																																																			.		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		C	3494664	A	C	3494664	2	2	27	1	0	0	0	0	0	0	0	1	4716	146	6	5		5	DOK7	4	3494664	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1658060	3494664	187659612	84	4644											
STX18	53407	broad.mit.edu	37	chr4	4461210	4461210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccatattcagacatggTatggctaaaaaaagacagca	7	10	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:4461210T>C	ENST00000306200.2	-	3	304	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	STX18_ENST00000505286.1_Missense_Mutation_p.T81A	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	81					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TCAGACAtggtatggctaaaa	0.453																																					p.T81A		.											.	STX18-90	0			c.A241G						.						190	174	179					4																	4461210		2203	4300	6503	SO:0001583	missense	53407	exon3			ACATGGTATGGCT	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.241A>G	4.37:g.4461210T>C	ENSP00000305810:p.Thr81Ala	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	216	5	NM_016930	0	0	0	0	0	Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	T	6.624	0.483563	0.12581	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.29142	1.58;1.58	5.07	1.09	0.20402	SNARE-complex protein Syntaxin-18 N-terminal (1);	0.498830	0.24037	N	0.042127	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26430	-1.0103	10	0.19590	T	0.45	-18.1783	9.1215	0.36791	0.0:0.4048:0.0:0.5952	.	81	Q9P2W9	STX18_HUMAN	A	81	ENSP00000426648:T81A;ENSP00000305810:T81A	ENSP00000305810:T81A	T	-	1	0	STX18	4512111	0.335000	0.24748	0.727000	0.30756	0.646000	0.38490	0.276000	0.18716	-0.029000	0.13827	0.418000	0.28097	ACC	.		0.453	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			C	4461210	T	C	4461210	3	2	27	1	0	0	0	0	1	0	0	0	15388	1638	57	4	802	4	STX18	4	4461210	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	966546	4461210	186693066	85	4645											
EVC	2121	bcgsc.ca	37	chr4	5800494	5800494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcagccaccaagagccGggccaaggacagggatgact	14	11	0	2	rs2279252	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:5800494G>A	ENST00000264956.6	+	15	2463	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Missense_Mutation_p.R760Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	760			R -> Q (in dbSNP:rs2279252). {ECO:0000269|PubMed:10700184}.		cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAAGAGCCGGGCCAAGGAC	0.632													G|||	138	0.0275559	8e-04	0.0231	5008	,	,		19605	0.0556		0.0119	False		,,,				2504	0.0542				p.R760Q		.											.	EVC-92	0			c.G2279A						.	G	GLN/ARG	11,4351		0,11,2170	23	20	21		2279	4.2	1	4	dbSNP_100	21	121,8417		1,119,4149	yes	missense	EVC	NM_153717.2	43	1,130,6319	AA,AG,GG		1.4172,0.2522,1.0233	probably-damaging	760/993	5800494	132,12768	2181	4269	6450	SO:0001583	missense	2121	exon15			AGAGCCGGGCCAA	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2279G>A	4.37:g.5800494G>A	ENSP00000264956:p.Arg760Gln	Somatic	372	4		WXS	Illumina GAIIx	Phase_I	520	207	NM_153717	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	51	0.023351648351648352	0	0.0	8	0.022099447513812154	31	0.05419580419580419	12	0.0158311345646438	G	9.827	1.187415	0.21870	0.002522	0.014172	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.52754	0.65;0.65	5.08	4.22	0.49857	.	0.389162	0.26331	N	0.024982	T	0.09113	0.0225	M	0.62723	1.935	0.33377	D	0.574385	P	0.50272	0.933	B	0.44044	0.439	T	0.30794	-0.9966	10	0.11794	T	0.64	.	6.9767	0.24679	0.0917:0.0:0.7384:0.1699	rs2279252;rs52809221;rs2279252	760	P57679	EVC_HUMAN	Q	760	ENSP00000264956:R760Q;ENSP00000372120:R760Q	ENSP00000264956:R760Q	R	+	2	0	EVC	5851395	0.590000	0.26815	0.984000	0.44739	0.594000	0.36715	2.223000	0.42936	2.355000	0.79922	0.561000	0.74099	CGG	G|0.980;A|0.020		0.632	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			A	5800494	G	A	5800494	3	1	27	1	0	0	0	0	1	0	0	0	5301	1116	39	1	2337	1	EVC	4	5800494	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1339284	5800494	185353782	86	4646											
SOD3	6649	hgsc.bcm.edu	37	chr4	24801354	24801354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagccgtcggccacgCtggacgccgcgcagccccgg	16	17	0	0	rs8192291	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:24801354C>T	ENST00000382120.3	+	2	416	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	71					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GTCGGCCACGCTGGACGCCGC	0.726													C|||	994	0.198482	0.0968	0.1585	5008	,	,		11823	0.3512		0.2028	False		,,,				2504	0.2025				p.L71L		.											.	SOD3-90	0			c.C211T						.	C		341,3293		12,317,1488	4	5	5		211	0.7	0	4	dbSNP_117	5	1103,6325		63,977,2674	no	coding-synonymous	SOD3	NM_003102.2		75,1294,4162	TT,TC,CC		14.8492,9.3836,13.0537		71/241	24801354	1444,9618	1817	3714	5531	SO:0001819	synonymous_variant	6649	exon2			GCCACGCTGGACG		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.211C>T	4.37:g.24801354C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	12	NM_003102	0	0	3	3	0	Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	CCDS3430.1																																																																																			C|0.777;T|0.223		0.726	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			T	24801354	C	T	24801354	2	4	27	1	0	0	0	0	0	0	0	1	14967	796	28	3		3	SOD3	4	24801354	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	19000860	24801354	166352922	87	4647											
ANAPC4	29945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	25419944	25419944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaacaagctggtgctgcCgctttagctccagagatagt	10	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:25419944C>T	ENST00000315368.3	+	29	2509	c.2367C>T	c.(2365-2367)gcC>gcT	p.A789A	ANAPC4_ENST00000510092.1_Silent_p.A790A	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	789					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)				CTGGTGCTGCCGCTTTAGCTC	0.438																																					p.A789A		.											.	ANAPC4-293	0			c.C2367T						.						79	84	82					4																	25419944		2203	4300	6503	SO:0001819	synonymous_variant	29945	exon29			TGCTGCCGCTTTA	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.2367C>T	4.37:g.25419944C>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	162	66	NM_013367	0	0	12	25	13	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																			.		0.438	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		T	25419944	C	T	25419944	2	4	27	1	0	0	0	0	0	0	0	1	604	639	23	1		1	ANAPC4	4	25419944	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	618590	25419944	165734332	88	4648											
SRP72	6731	bcgsc.ca;mdanderson.org	37	chr4	57350950	57350950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttacagtcccaaagtcccGagcatctcttacctgtgtta	7	12	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:57350950G>A	ENST00000342756.5	+	10	1727	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	SRP72_ENST00000510663.1_Missense_Mutation_p.E275K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	336					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCAAAGTCCCGAGCATCTCTT	0.413																																					p.E336K		.											.	SRP72-116	0			c.G1006A						.						113	106	108					4																	57350950		2203	4300	6503	SO:0001583	missense	6731	exon10			AGTCCCGAGCATC	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1006G>A	4.37:g.57350950G>A	ENSP00000342181:p.Glu336Lys	Somatic	51	1		WXS	Illumina GAIIx	Phase_I	72	36	NM_006947	0	0	21	37	16	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473826	0.43942	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.76186	-1.0;1.21	5.62	5.62	0.85841	.	0.383379	0.33144	N	0.005233	T	0.61937	0.2387	L	0.36672	1.1	0.39784	D	0.972333	P;B;B	0.38370	0.628;0.005;0.389	B;B;B	0.26693	0.072;0.004;0.023	T	0.63924	-0.6527	10	0.27082	T	0.32	.	17.1395	0.86749	0.0:0.0:1.0:0.0	.	275;336;336	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	K	336;281;275;97	ENSP00000342181:E336K;ENSP00000424576:E275K	ENSP00000342181:E336K	E	+	1	0	SRP72	57045707	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.323000	0.65858	2.630000	0.89119	0.655000	0.94253	GAG	.		0.413	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			A	57350950	G	A	57350950	3	1	27	1	0	0	0	0	1	0	0	0	15204	1059	37	1	1044	1	SRP72	4	57350950	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	31931006	57350950	133803326	89	4649											
PF4	5196	broad.mit.edu;bcgsc.ca	37	chr4	74847662	74847662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgcagaacccggctgcGgagctcatgctgcggcagag	17	12	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:74847662G>A	ENST00000296029.3	-	1	179	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	3					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	ACCCGGCTGCGGAGCTCATGC	0.657																																					p.S3S		.											.	PF4-90	0			c.C9T						.						13	16	15					4																	74847662		1839	3391	5230	SO:0001819	synonymous_variant	5196	exon1			GGCTGCGGAGCTC	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.9C>T	4.37:g.74847662G>A		Somatic	325	0		WXS	Illumina GAIIx	Phase_I	427	11	NM_002619	0	0	0	0	0	Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	CCDS3562.1																																																																																			.		0.657	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			A	74847662	G	A	74847662	2	1	27	1	0	0	0	0	0	0	0	1	11791	1103	39	1		1	PF4	4	74847662	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	17496712	74847662	116306614	90	4650											
FRAS1	80144	broad.mit.edu	37	chr4	79393383	79393383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccatggacccagacaCcgaggacgcgcagcttgtct	12	14	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:79393383C>A	ENST00000264895.6	+	52	7861	c.7421C>A	c.(7420-7422)aCc>aAc	p.T2474N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2474					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						GACCCAGACACCGAGGACGCG	0.512																																					p.T2474N		.											.	FRAS1-68	0			c.C7421A						.						62	65	64					4																	79393383		2004	4168	6172	SO:0001583	missense	80144	exon52			CAGACACCGAGGA	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7421C>A	4.37:g.79393383C>A	ENSP00000264895:p.Thr2474Asn	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	310	7	NM_025074	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.93|16.93	3.257903|3.257903	0.59321|0.59321	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.43294	.|0.95	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.112204	.|0.64402	.|D	.|0.000013	T|T	0.66096|0.66096	0.2755|0.2755	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	T|T	0.69873|0.69873	-0.5027|-0.5027	5|10	.|0.87932	.|D	.|0	.|.	18.698|18.698	0.91610|0.91610	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2474	.|E9PHH6	.|.	Q|N	702|2474	.|ENSP00000264895:T2474N	.|ENSP00000264895:T2474N	H|T	+|+	3|2	2|0	FRAS1|FRAS1	79612407|79612407	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.061000|0.061000	0.15899|0.15899	7.542000|7.542000	0.82095|0.82095	2.625000|2.625000	0.88918|0.88918	0.655000|0.655000	0.94253|0.94253	CAC|ACC	.		0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79393383	C	A	79393383	3	1	27	1	0	0	0	0	1	0	0	0	6066	507	18	3	7702	3	FRAS1	4	79393383	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4545721	79393383	111760893	91	4651											
COL25A1	84570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	109810390	109810390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattaccttttgccctggaCgaccagattccccaggttct	7	13	1	1	rs542832525		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:109810390C>T	ENST00000399132.1	-	18	1492	c.962G>A	c.(961-963)cGt>cAt	p.R321H	COL25A1_ENST00000399127.1_Missense_Mutation_p.R317H|COL25A1_ENST00000399126.1_Missense_Mutation_p.R321H	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTGCCCTGGACGACCAGATTC	0.383													C|||	1	0.000199681	0	0	5008	,	,		17522	0		0	False		,,,				2504	0.001				p.R321H		.											.	COL25A1-92	0			c.G962A						.						159	160	160					4																	109810390		1846	4087	5933	SO:0001583	missense	84570	exon17			CCTGGACGACCAG	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.962G>A	4.37:g.109810390C>T	ENSP00000382083:p.Arg321His	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	100	42	NM_198721	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925081	0.34002	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	T;T;T	0.23754	1.89;1.89;1.89	5.64	4.8	0.61643	.	0.067490	0.64402	D	0.000012	T	0.30324	0.0761	L	0.45422	1.42	0.37651	D	0.922417	P;D	0.59767	0.584;0.986	B;P	0.49853	0.054;0.624	T	0.14868	-1.0457	9	.	.	.	-6.6948	13.6859	0.62515	0.0:0.9257:0.0:0.0743	.	321;321	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	H	321;323;317;317;321;251	ENSP00000382083:R321H;ENSP00000382078:R317H;ENSP00000382077:R321H	.	R	-	2	0	COL25A1	110029839	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	4.171000	0.58236	1.391000	0.46566	-0.266000	0.10368	CGT	.		0.383	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		T	109810390	C	T	109810390	3	4	27	1	0	0	0	0	1	0	0	0	3691	536	19	1	1170	1	COL25A1	4	109810390	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	30417007	109810390	81343886	92	4652											
LARP7	51574	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	113570694	113570694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttctttccttgtaggagCgaatggatggatttgaaaaa	10	5	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:113570694C>T	ENST00000344442.5	+	9	1424	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	MIR302B_ENST00000509938.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Silent_p.S389S|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000324052.6_Silent_p.S382S|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	382					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTTGTAGGAGCGAATGGATGG	0.318																																					p.S389S		.											.	LARP7-93	0			c.C1167T						.						28	27	28					4																	113570694		2202	4294	6496	SO:0001819	synonymous_variant	51574	exon11			TAGGAGCGAATGG	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1146C>T	4.37:g.113570694C>T		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	261	26	NM_001267039	0	0	0	0	0	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Silent	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743840	0.30865	.	.	ENSG00000174720	ENST00000511529	.	.	.	5.46	-6.07	0.02158	.	.	.	.	.	T	0.52821	0.1758	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	T	0.55218	-0.8175	4	.	.	.	-0.8882	10.6906	0.45869	0.1839:0.0839:0.0:0.7322	.	.	.	.	V	176	.	.	A	+	2	0	LARP7	113790143	0.000000	0.05858	0.002000	0.10522	0.886000	0.51366	-1.250000	0.02885	-1.549000	0.01710	-0.218000	0.12543	GCG	.		0.318	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		T	113570694	C	T	113570694	2	4	27	1	0	0	0	0	0	0	0	1	8661	767	27	1		1	LARP7	4	113570694	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3760304	113570694	77583582	93	4653											
FABP2	2169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	120240719	120240719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcatcacctataatttctCggacagtattcagttcgttt	6	9	4	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:120240719C>T	ENST00000274024.3	-	3	607	c.320G>A	c.(319-321)cGa>cAa	p.R107Q		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	107					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.R107I(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TATAATTTCTCGGACAGTATT	0.333																																					p.R107Q		.											.	FABP2-91	1	Substitution - Missense(1)	lung(1)	c.G320A						.						130	122	125					4																	120240719		2203	4300	6503	SO:0001583	missense	2169	exon3			ATTTCTCGGACAG	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"Fatty acid binding protein family"	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.320G>A	4.37:g.120240719C>T	ENSP00000274024:p.Arg107Gln	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	76	29	NM_000134	0	0	7	35	28	Q2NKJ1	Missense_Mutation	SNP	ENST00000274024.3	37	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703210	0.88924	.	.	ENSG00000145384	ENST00000274024	T	0.08984	3.03	5.31	4.46	0.54185	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.104185	0.64402	N	0.000004	T	0.15739	0.0379	M	0.68593	2.085	0.80722	D	1	D	0.56521	0.976	P	0.47102	0.537	T	0.01360	-1.1375	10	0.72032	D	0.01	.	13.965	0.64202	0.0:0.9252:0.0:0.0748	.	107	P12104	FABPI_HUMAN	Q	107	ENSP00000274024:R107Q	ENSP00000274024:R107Q	R	-	2	0	FABP2	120460167	1.000000	0.71417	0.953000	0.39169	0.808000	0.45660	3.220000	0.51207	1.224000	0.43551	0.650000	0.86243	CGA	.		0.333	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		T	120240719	C	T	120240719	3	4	27	1	0	0	0	0	1	0	0	0	5376	884	31	1	86	1	FABP2	4	120240719	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6670025	120240719	70913557	94	4654											
IRF2	3660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	185340688	185340688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccacccatgtctagccGcatgcatccaggggatctga	9	15	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:185340688G>A	ENST00000393593.3	-	3	329	c.122C>T	c.(121-123)gCg>gTg	p.A41V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	41					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGTCTAGCCGCATGCATCCA	0.423																																					p.A41V		.											.	IRF2-91	1	Substitution - Missense(1)	large_intestine(1)	c.C122T						.						108	109	109					4																	185340688		2203	4300	6503	SO:0001583	missense	3660	exon3			CTAGCCGCATGCA		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.122C>T	4.37:g.185340688G>A	ENSP00000377218:p.Ala41Val	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	85	35	NM_002199	0	0	19	33	14	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135806	0.94517	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	4.99	4.99	0.66335	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99785	1.1029	10	0.87932	D	0	-9.6502	18.4742	0.90786	0.0:0.0:1.0:0.0	.	41	P14316	IRF2_HUMAN	V	41	ENSP00000377218:A41V;ENSP00000427204:A41V;ENSP00000424552:A41V;ENSP00000422860:A41V	ENSP00000377218:A41V	A	-	2	0	IRF2	185577682	1.000000	0.71417	0.957000	0.39632	0.942000	0.58702	9.645000	0.98471	2.581000	0.87130	0.655000	0.94253	GCG	.		0.423	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			A	185340688	G	A	185340688	3	1	27	1	0	0	0	0	1	0	0	0	7855	1087	38	1	955	1	IRF2	4	185340688	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	65099969	185340688	5813588	95	4655											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187629666	187629666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcttttctgtcacttgttGttacttcaagttcaaaatgg	7	8	4	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr4:187629666G>T	ENST00000441802.2	-	2	1525	c.1316C>A	c.(1315-1317)aCa>aAa	p.T439K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	439	Cadherin 3. {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						GTCACTTGTTGTTACTTCAAG	0.403										HNSCC(5;0.00058)																											p.T439K	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.C1316A						.						200	197	198					4																	187629666		1883	4121	6004	SO:0001583	missense	2195	exon2			CTTGTTGTTACTT	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.1316C>A	4.37:g.187629666G>T	ENSP00000406229:p.Thr439Lys	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	186	95	NM_005245	0	0	0	0	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	3.661	-0.069557	0.07228	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	D;T	0.82803	-1.65;0.12	5.35	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.240198	0.44902	D	0.000416	T	0.69513	0.3119	L	0.38692	1.165	0.23950	N	0.996379	B	0.30511	0.282	B	0.32465	0.146	T	0.56384	-0.7988	10	0.06099	T	0.92	.	5.8932	0.18925	0.3104:0.0:0.6896:0.0	.	439	Q14517	FAT1_HUMAN	K	439	ENSP00000406229:T439K;ENSP00000423736:T439K	ENSP00000260147:T439K	T	-	2	0	FAT1	187866660	0.981000	0.34729	0.205000	0.23548	0.724000	0.41520	3.177000	0.50871	1.490000	0.48466	0.561000	0.74099	ACA	.		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187629666	G	T	187629666	3	4	27	1	0	0	0	0	1	0	0	0	5711	1377	48	3	12554	3	FAT1	4	187629666	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2288978	187629666	3524610	96	4656											
LRRC14B	389257	hgsc.bcm.edu	37	chr5	191992	191992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggtggctgacctcacGggcatccgagatgtgcaggt	16	11	1	2	rs34710524	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:191992G>A	ENST00000328278.3	+	1	367	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	113										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CTGACCTCACGGGCATCCGAG	0.741													G|||	110	0.0219649	0.0023	0.0346	5008	,	,		13465	0		0.0746	False		,,,				2504	0.0082				p.T113T		.											.	LRRC14B-69	0			c.G339A						.	G		35,2869		0,35,1417	2	3	2		339	-10.1	0	5	dbSNP_126	2	366,5908		2,362,2773	no	coding-synonymous	LRRC14B	NM_001080478.1		2,397,4190	AA,AG,GG		5.8336,1.2052,4.3691		113/515	191992	401,8777	1452	3137	4589	SO:0001819	synonymous_variant	389257	exon1			CCTCACGGGCATC		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.339G>A	5.37:g.191992G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001080478	0	0	0	0	0		Silent	SNP	ENST00000328278.3	37	CCDS47184.1																																																																																			G|0.975;A|0.025		0.741	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		A	191992	G	A	191992	2	1	27	1	0	0	0	0	0	0	0	1	9004	1103	39	1		1	LRRC14B	5	191992	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		191992	180723268	97	4657											
EXOC3	11336	broad.mit.edu	37	chr5	466881	466881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggctgtgcgtggggaCgccagccgtgacatgaagca	16	11	0	2	rs568176788		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:466881C>T	ENST00000512944.1	+	13	2295	c.2106C>T	c.(2104-2106)gaC>gaT	p.D702D	EXOC3_ENST00000315013.5_Silent_p.D702D|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	713					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCGTGGGGACGCCAGCCGTG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		16766	0		0	False		,,,				2504	0				p.D702D		.											.	EXOC3-90	0			c.C2106T						.						41	50	47					5																	466881		2188	4281	6469	SO:0001819	synonymous_variant	11336	exon13			TGGGGACGCCAGC	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2106C>T	5.37:g.466881C>T		Somatic	409	0		WXS	Illumina GAIIx	Phase_I	447	8	NM_007277	0	0	60	63	3	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	CCDS54830.1																																																																																			.		0.642	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		T	466881	C	T	466881	2	4	27	1	0	0	0	0	0	0	0	1	5319	535	19	1		1	EXOC3	5	466881	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	274889	466881	180448379	98	4658											
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	1089183	1089183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcaggaagaggatgaCgcccaggatgttctgcaggc	16	10	1	2	rs372645005		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:1089183C>T	ENST00000264930.5	-	4	446	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	135					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)	AAGAGGATGACGCCCAGGATG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		17555	0		0	False		,,,				2504	0				p.V135I		.											.	SLC12A7-138	0			c.G403A						.	C	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	180	147	158		403	3.6	1	5		158	0,8600		0,0,4300	no	missense	SLC12A7	NM_006598.2	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	135/1084	1089183	1,13003	2202	4300	6502	SO:0001583	missense	10723	exon4			GGATGACGCCCAG	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.403G>A	5.37:g.1089183C>T	ENSP00000264930:p.Val135Ile	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	267	131	NM_006598	0	0	0	1	1	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781911	0.90282	2.27E-4	0.0	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.98633	-5.04	3.61	3.61	0.41365	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	M	0.62266	1.93	0.58432	D	0.999999	D	0.76494	0.999	D	0.68039	0.955	D	0.98693	1.0697	10	0.49607	T	0.09	.	14.1755	0.65539	0.0:1.0:0.0:0.0	.	135	Q9Y666	S12A7_HUMAN	I	135	ENSP00000264930:V135I	ENSP00000264930:V135I	V	-	1	0	SLC12A7	1142183	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	6.945000	0.75947	1.739000	0.51704	0.561000	0.74099	GTC	.		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1089183	C	T	1089183	3	4	27	1	0	0	0	0	1	0	0	0	14433	536	19	1	2932	1	SLC12A7	5	1089183	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	622302	1089183	179826077	99	4659											
PARP8	79668	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	50090917	50090917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcacaaacttttgaaccGtccttgccctgcagctgtta	7	13	0	1	rs201467874		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:50090917G>A	ENST00000281631.5	+	12	1252	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	PARP8_ENST00000503750.2_Missense_Mutation_p.R365H|PARP8_ENST00000505697.2_Missense_Mutation_p.R365H|PARP8_ENST00000514067.2_Missense_Mutation_p.R365H|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.R344H|PARP8_ENST00000514342.2_Missense_Mutation_p.R118H	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	365						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTTTGAACCGTCCTTGCCCT	0.498													G|||	1	0.000199681	0	0	5008	,	,		21220	0.001		0	False		,,,				2504	0				p.R365H		.											.	PARP8-586	0			c.G1094A						.						117	111	113					5																	50090917		2203	4300	6503	SO:0001583	missense	79668	exon12			TGAACCGTCCTTG	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1094G>A	5.37:g.50090917G>A	ENSP00000281631:p.Arg365His	Somatic	227	2		WXS	Illumina GAIIx	Phase_I	302	143	NM_001178056	1	0	20	38	17	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.57	3.158909	0.57368	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.38175	1.15	0.53005	D	0.999966	B;B;B	0.21688	0.004;0.059;0.002	B;B;B	0.12837	0.002;0.008;0.001	T	0.33059	-0.9883	8	.	.	.	-11.4003	13.6257	0.62163	0.0747:0.0:0.9253:0.0	.	257;365;365	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	H	365;365;118;365;365;344;118;118	.	.	R	+	2	0	PARP8	50126674	0.992000	0.36948	0.998000	0.56505	0.983000	0.72400	3.997000	0.57016	2.605000	0.88082	0.655000	0.94253	CGT	G|0.999;A|0.000		0.498	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		A	50090917	G	A	50090917	3	1	27	1	0	0	0	0	1	0	0	0	11504	1145	40	1	1140	1	PARP8	5	50090917	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	49001734	50090917	130824343	100	4660											
SNX18	112574	hgsc.bcm.edu	37	chr5	53814052	53814052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgagcccctgccTgtcgcgccccccgcctcctt	12	20	0	0	rs2548615	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:53814052T>C	ENST00000326277.3	+	1	460	c.270T>C	c.(268-270)ccT>ccC	p.P90P	SNX18_ENST00000381410.4_Silent_p.P90P|SNX18_ENST00000343017.6_Silent_p.P90P	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	90					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCCCCTGCCTGTCGCGCCCC	0.791													N|||	4953	0.989018	0.9728	0.9942	5008	,	,		9287	1		0.9901	False		,,,				2504	0.9949				p.P90P		.											.	SNX18-226	0			c.T270C						.	C	,,	1635,19		808,19,0	1	2	2		270,270,270	-2.1	0.2	5	dbSNP_100	2	4035,67		1984,67,0	no	coding-synonymous,coding-synonymous,coding-synonymous	SNX18	NM_001102575.1,NM_001145427.1,NM_052870.2	,,	2792,86,0	CC,CT,TT		1.6333,1.1487,1.4941	,,	90/625,90/592,90/629	53814052	5670,86	827	2051	2878	SO:0001819	synonymous_variant	112574	exon1			CCTGCCTGTCGCG	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.270T>C	5.37:g.53814052T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_052870	0	0	0	0	0	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	CCDS3962.1																																																																																			G|0.979;C|0.003		0.791	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			C	53814052	T	C	53814052	2	2	27	1	0	0	0	0	0	0	0	1	14934	1567	55	4		4	SNX18	5	53814052	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	3723135	53814052	127101208	101	4661											
SGTB	54557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	65000123	65000123	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgttgcaatagtaaacTgcattattgggatccaattc	7	8	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:65000123T>G	ENST00000381007.4	-	5	592	c.357A>C	c.(355-357)gcA>gcC	p.A119A		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	119										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		AATAGTAAACTGCATTATTGG	0.338																																					p.A119A		.											.	SGTB-90	0			c.A357C						.						140	130	133					5																	65000123		2203	4300	6503	SO:0001819	synonymous_variant	54557	exon5			GTAAACTGCATTA	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.357A>C	5.37:g.65000123T>G		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	86	43	NM_019072	0	0	0	0	0		Silent	SNP	ENST00000381007.4	37	CCDS3988.1																																																																																			.		0.338	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		G	65000123	T	G	65000123	2	3	27	1	0	0	0	0	0	0	0	1	14271	1567	55	5		5	SGTB	5	65000123	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	11186071	65000123	115915137	102	4662											
GCNT4	51301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	74325230	74325230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaagacttcagaaggtcCgacaagcaatttaaatcagc	8	8	2	3	rs148761969	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:74325230C>T	ENST00000322348.4	-	1	1494	c.633G>A	c.(631-633)tcG>tcA	p.S211S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	211					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)		TCAGAAGGTCCGACAAGCAAT	0.388																																					p.S211S		.											.	GCNT4-93	0			c.G633A						.	C		2,4400		0,2,2199	75	78	77		633	-2.2	1	5	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	GCNT4	NM_016591.2		0,2,6499	TT,TC,CC		0.0,0.0454,0.0154		211/454	74325230	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	51301	exon1			AAGGTCCGACAAG	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.633G>A	5.37:g.74325230C>T		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	137	74	NM_016591	0	0	2	3	1		Silent	SNP	ENST00000322348.4	37	CCDS4026.1																																																																																			C|0.999;T|0.001		0.388	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		T	74325230	C	T	74325230	2	4	27	1	0	0	0	0	0	0	0	1	6328	639	23	1		1	GCNT4	5	74325230	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9325107	74325230	106590030	103	4663											
ARSB	411	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	78076460	78076460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaacattgtattgagaCggtggagggaaccagtaacc	12	7	1	2	rs35757003	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:78076460C>T	ENST00000264914.4	-	8	1898	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	454					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TGTATTGAGACGGTGGAGGGA	0.473													C|||	281	0.0561102	0.2057	0.0101	5008	,	,		21095	0		0	False		,,,				2504	0.002				p.P454P	Melanoma(169;563 1968 25780 26156 52266)	.											.	ARSB-91	0			c.G1362A						.	C		707,3699	293.6+/-282.7	54,599,1550	78	76	77		1362	-11.2	0	5	dbSNP_126	77	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	ARSB	NM_000046.3		54,605,5844	TT,TC,CC		0.0698,16.0463,5.4821		454/534	78076460	713,12293	2203	4300	6503	SO:0001819	synonymous_variant	411	exon8			TTGAGACGGTGGA	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1362G>A	5.37:g.78076460C>T		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	177	68	NM_000046	0	0	3	4	1	B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	CCDS4043.1																																																																																			C|0.951;T|0.049		0.473	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		T	78076460	C	T	78076460	2	4	27	1	0	0	0	0	0	0	0	1	989	523	19	1		1	ARSB	5	78076460	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3751230	78076460	102838800	104	4664											
CKMT2	1160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	80548557	80548557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacaacaactgcatggccGagtgcctcacccccgccatt	8	17	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:80548557G>A	ENST00000424301.2	+	4	434	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CKMT2_ENST00000254035.4_Missense_Mutation_p.E66K|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E66K|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	66	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGCATGGCCGAGTGCCTCAC	0.622																																					p.E66K		.											.	CKMT2-90	0			c.G196A						.						105	90	95					5																	80548557		2203	4300	6503	SO:0001583	missense	1160	exon4			ATGGCCGAGTGCC		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.196G>A	5.37:g.80548557G>A	ENSP00000404203:p.Glu66Lys	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	293	127	NM_001825	0	0	1	6	5	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	6.897	0.534949	0.13188	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	6.04	5.16	0.70880	ATP:guanido phosphotransferase, N-terminal (4);	0.287868	0.41712	D	0.000823	T	0.13372	0.0324	N	0.00101	-2.135	0.38776	D	0.954667	B	0.06786	0.001	B	0.06405	0.002	T	0.44513	-0.9323	10	0.02654	T	1	-13.8907	11.8265	0.52269	0.134:0.0:0.866:0.0	.	66	P17540	KCRS_HUMAN	K	66	ENSP00000254035:E66K;ENSP00000423264:E66K;ENSP00000410289:E66K;ENSP00000404203:E66K;ENSP00000427635:E66K	ENSP00000254035:E66K	E	+	1	0	CKMT2	80584313	0.329000	0.24696	0.977000	0.42913	0.932000	0.56968	1.087000	0.30865	2.873000	0.98535	0.561000	0.74099	GAG	.		0.622	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		A	80548557	G	A	80548557	3	1	27	1	0	0	0	0	1	0	0	0	3458	1059	37	1	202	1	CKMT2	5	80548557	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2472097	80548557	100366703	105	4665											
HAPLN1	1404	bcgsc.ca	37	chr5	82937410	82937410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcagtaggactgcagcGccttcttggcctagagatgg	13	11	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:82937410G>A	ENST00000274341.4	-	5	1820	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	324	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GGACTGCAGCGCCTTCTTGGC	0.532																																					p.R324C		.											.	HAPLN1-580	0			c.C970T						.						107	113	111					5																	82937410		2203	4300	6503	SO:0001583	missense	1404	exon5			TGCAGCGCCTTCT		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.970C>T	5.37:g.82937410G>A	ENSP00000274341:p.Arg324Cys	Somatic	242	3		WXS	Illumina GAIIx	Phase_I	373	169	NM_001884	0	0	0	0	0	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215621	0.39102	.	.	ENSG00000145681	ENST00000274341	T	0.31769	1.48	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65228	-0.6219	10	0.87932	D	0	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	324	P10915	HPLN1_HUMAN	C	324	ENSP00000274341:R324C	ENSP00000274341:R324C	R	-	1	0	HAPLN1	82973166	0.997000	0.39634	1.000000	0.80357	0.169000	0.22640	2.513000	0.45494	2.581000	0.87130	0.655000	0.94253	CGC	.		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		A	82937410	G	A	82937410	3	1	27	1	0	0	0	0	1	0	0	0	6981	1087	38	1	98	1	HAPLN1	5	82937410	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2388853	82937410	97977850	106	4666											
LMNB1	4001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	126154661	126154661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattagaggacttgcttgcTaaagaaaaagacaactctcg	9	7	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:126154661T>C	ENST00000261366.5	+	6	1348	c.987T>C	c.(985-987)gcT>gcC	p.A329A	LMNB1_ENST00000395354.1_Silent_p.A329A|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	329	Coil 2.|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)		ACTTGCTTGCTAAAGAAAAAG	0.403																																					p.A329A		.											.	LMNB1-226	0			c.T987C						.						108	110	109					5																	126154661		2203	4300	6503	SO:0001819	synonymous_variant	4001	exon6			GCTTGCTAAAGAA	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.987T>C	5.37:g.126154661T>C		Somatic	257	1		WXS	Illumina GAIIx	Phase_I	362	172	NM_005573	0	0	18	25	7	B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	CCDS4140.1																																																																																			.		0.403	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		C	126154661	T	C	126154661	2	2	27	1	0	0	0	0	0	0	0	1	8879	1509	53	4		4	LMNB1	5	126154661	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	43217251	126154661	54760599	107	4667											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	27	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	5995023	132149684	48765576	108	4668											
PCDHB11	56125	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140581614	140581614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtacgaggtgtgtctgaCgggaggttccgagacaaatg	15	8	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:140581614C>T	ENST00000354757.3	+	1	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHB11_ENST00000536699.1_Missense_Mutation_p.T391M	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	756					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGTCTGACGGGAGGTTCC	0.527																																					p.T756M		.											.	PCDHB11-96	0			c.C2267T						.						119	133	128					5																	140581614		2203	4300	6503	SO:0001583	missense	56125	exon1			GTCTGACGGGAGG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2267C>T	5.37:g.140581614C>T	ENSP00000346802:p.Thr756Met	Somatic	197	2		WXS	Illumina GAIIx	Phase_I	304	121	NM_018931	0	0	1	1	0	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042639	0.19748	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17854	2.25;2.25	2.77	-1.56	0.08532	.	.	.	.	.	T	0.17916	0.0430	M	0.73372	2.23	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.30475	-0.9977	9	0.52906	T	0.07	.	6.5443	0.22397	0.0:0.5802:0.231:0.1888	.	756	Q9Y5F2	PCDBB_HUMAN	M	391;756	ENSP00000440344:T391M;ENSP00000346802:T756M	ENSP00000346802:T756M	T	+	2	0	PCDHB11	140561798	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-1.257000	0.02866	-0.247000	0.09597	0.549000	0.68633	ACG	.		0.527	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		T	140581614	C	T	140581614	3	4	27	1	0	0	0	0	1	0	0	0	11575	536	19	1	2269	1	PCDHB11	5	140581614	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	8431930	140581614	40333646	109	4669											
TCOF1	6949	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149755751	149755751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggcacccaagccccccGgaaagcaggaactgcgactt	12	14	0	0	rs146735293	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:149755751G>A	ENST00000504761.2	+	13	2000	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	TCOF1_ENST00000513346.1_Missense_Mutation_p.R667Q|TCOF1_ENST00000445265.2_Missense_Mutation_p.R590Q|TCOF1_ENST00000439160.2_Missense_Mutation_p.R667Q|TCOF1_ENST00000394269.3_Missense_Mutation_p.R667Q|TCOF1_ENST00000323668.7_Missense_Mutation_p.R590Q|TCOF1_ENST00000377797.3_Missense_Mutation_p.R667Q|TCOF1_ENST00000451292.1_Missense_Mutation_p.R667Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	667					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGCCCCCCGGAAAGCAGGA	0.582																																					p.R667Q		.											.	TCOF1-155	0			c.G2000A						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	112	129	123		1769,2000,2000,2000,1769,2000	4.1	0.3	5	dbSNP_134	123	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense,missense,missense,missense	TCOF1	NM_000356.3,NM_001008657.2,NM_001135243.1,NM_001135244.1,NM_001135245.1,NM_001195141.1	43,43,43,43,43,43	0,10,6493	AA,AG,GG		0.0698,0.0908,0.0769	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	590/1412,667/959,667/1489,667/1452,590/1413,667/1451	149755751	10,12996	2203	4300	6503	SO:0001583	missense	6949	exon13			CCCCCCGGAAAGC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2000G>A	5.37:g.149755751G>A	ENSP00000421655:p.Arg667Gln	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	213	112	NM_001135243	0	0	13	26	13	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914618	0.52546	9.08E-4	6.98E-4	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.99	4.12	0.48240	Treacher Collins syndrome, treacle (1);	1.924210	0.02647	N	0.105976	T	0.72946	0.3524	L	0.54323	1.7	0.22017	N	0.999419	D;P;P;P;D;P;P	0.69078	0.986;0.789;0.789;0.789;0.997;0.789;0.919	P;B;B;B;P;B;B	0.60415	0.59;0.142;0.142;0.142;0.874;0.142;0.196	T	0.52704	-0.8540	10	0.21540	T	0.41	1.3964	9.695	0.40152	0.0977:0.0:0.9023:0.0	.	176;667;590;667;667;590;667	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	Q	667;667;590;590;667;667;667;667;667	ENSP00000400939:R667Q;ENSP00000367028:R667Q;ENSP00000409944:R590Q;ENSP00000325223:R590Q;ENSP00000406888:R667Q;ENSP00000377811:R667Q;ENSP00000390717:R667Q;ENSP00000421655:R667Q;ENSP00000427484:R667Q	ENSP00000325223:R590Q	R	+	2	0	TCOF1	149735944	0.981000	0.34729	0.296000	0.24974	0.022000	0.10575	1.759000	0.38420	1.223000	0.43536	-0.258000	0.10820	CGG	G|0.998;A|0.002		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		A	149755751	G	A	149755751	3	1	27	1	0	0	0	0	1	0	0	0	15755	1116	39	1	2050	1	TCOF1	5	149755751	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9174137	149755751	31159509	110	4670											
RNF145	153830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	158595954	158595954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgtaggatagaagctaCgacaatgaaaaggataatac	10	5	0	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:158595954C>T	ENST00000424310.2	-	8	1407	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	RNF145_ENST00000518802.1_Missense_Mutation_p.V380I|RNF145_ENST00000519865.1_Missense_Mutation_p.V350I|RNF145_ENST00000274542.2_Missense_Mutation_p.V378I|RNF145_ENST00000521606.2_Missense_Mutation_p.V367I|RNF145_ENST00000520638.1_Missense_Mutation_p.V364I	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	350						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATAGAAGCTACGACAATGAAA	0.408																																					p.V380I		.											.	RNF145-525	0			c.G1138A						.						118	117	117					5																	158595954		2203	4300	6503	SO:0001583	missense	153830	exon8			AAGCTACGACAAT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1048G>A	5.37:g.158595954C>T	ENSP00000409064:p.Val350Ile	Somatic	382	0		WXS	Illumina GAIIx	Phase_I	516	222	NM_001199380	0	0	24	40	16	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115532	0.56505	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77877	-1.13;-1.12;-1.12;-1.13;-1.13;-1.13;-1.13	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	L	0.43152	1.355	0.80722	D	1	P;P;P;P;P	0.50369	0.922;0.922;0.922;0.934;0.904	B;B;B;B;B	0.40782	0.234;0.234;0.34;0.28;0.23	T	0.70085	-0.4969	10	0.21014	T	0.42	-14.435	18.836	0.92162	0.0:1.0:0.0:0.0	.	367;364;380;350;378	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	I	378;350;350;366;367;380;350;364	ENSP00000274542:V378I;ENSP00000430397:V350I;ENSP00000409064:V350I;ENSP00000430753:V366I;ENSP00000445115:V367I;ENSP00000430955:V380I;ENSP00000429071:V364I	ENSP00000274542:V378I	V	-	1	0	RNF145	158528532	1.000000	0.71417	0.114000	0.21550	0.681000	0.39784	7.776000	0.85560	2.516000	0.84829	0.585000	0.79938	GTA	.		0.408	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		T	158595954	C	T	158595954	3	4	27	1	0	0	0	0	1	0	0	0	13492	536	19	1	959	1	RNF145	5	158595954	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	8840203	158595954	22319306	111	4671											
GABRB2	2561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	160757958	160757958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgctttcttttggcGttggggccccctcccaaaga	10	14	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:160757958G>A	ENST00000393959.1	-	8	1008	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	GABRB2_ENST00000274547.2_Missense_Mutation_p.R337C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R177C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R337C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R337C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R274C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCTTTTGGCGTTGGGGCCCC	0.512																																					p.R337C		.											.	GABRB2-91	0			c.C1009T						.						97	101	100					5																	160757958		2203	4300	6503	SO:0001583	missense	2561	exon9			TTTGGCGTTGGGG		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1009C>T	5.37:g.160757958G>A	ENSP00000377531:p.Arg337Cys	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	209	89	NM_021911	0	0	2	3	1	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372399	0.61624	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.26	4.38	0.52667	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.242340	0.05302	N	0.523087	D	0.92325	0.7565	L	0.49126	1.545	0.80722	D	1	D;B;B;D	0.89917	1.0;0.065;0.014;0.998	D;B;B;P	0.69307	0.963;0.056;0.032;0.84	T	0.82802	-0.0277	10	0.72032	D	0.01	.	14.1894	0.65628	0.0729:0.0:0.9271:0.0	.	177;274;337;337	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	337;337;337;337;274;177	ENSP00000377531:R337C;ENSP00000274547:R337C;ENSP00000274546:R337C;ENSP00000429320:R337C;ENSP00000430532:R274C;ENSP00000429750:R177C	ENSP00000274547:R337C	R	-	1	0	GABRB2	160690536	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.592000	0.61027	1.195000	0.43115	0.563000	0.77884	CGC	.		0.512	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			A	160757958	G	A	160757958	3	1	27	1	0	0	0	0	1	0	0	0	6191	1145	40	1	541	1	GABRB2	5	160757958	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2162004	160757958	20157302	112	4672											
ODZ2	57451	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	167674406	167674406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaccctcagcaaacacttCgacacccatgggcggatcaa	8	14	2	1	rs369031454		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:167674406C>T	ENST00000518659.1	+	27	6501	c.6462C>T	c.(6460-6462)ttC>ttT	p.F2154F	TENM2_ENST00000520394.1_Silent_p.F1915F|TENM2_ENST00000519204.1_Silent_p.F2033F|TENM2_ENST00000545108.1_Silent_p.F2153F|TENM2_ENST00000403607.2_Silent_p.F1978F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2154					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)										GCAAACACTTCGACACCCATG	0.493																																					p.F2145F		.											.	.	0			c.C6435T						.						119	116	117					5																	167674406		2039	4187	6226	SO:0001819	synonymous_variant	57451	exon27			ACACTTCGACACC	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.6462C>T	5.37:g.167674406C>T		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	191	85	NM_001122679	0	0	0	0	0	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				.		0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167674406	C	T	167674406	2	4	27	1	0	0	0	0	0	0	0	1	10874	883	31	1		1	ODZ2	5	167674406	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6916448	167674406	13240854	113	4673											
UNC5A	90249	broad.mit.edu;bcgsc.ca	37	chr5	176305512	176305512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctggaatggcacgcagCggtacttgcactgcaccttc	10	13	1	0	rs371754063		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:176305512C>T	ENST00000329542.4	+	13	2330	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	UNC5A_ENST00000261961.3_Missense_Mutation_p.R646W	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	686					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCACGCAGCGGTACTTGCA	0.622																																					p.R686W		.											.	UNC5A-91	0			c.C2056T						.	C	TRP/ARG	0,4406		0,0,2203	105	85	92		2056	5.7	1	5		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5A	NM_133369.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	686/843	176305512	1,13005	2203	4300	6503	SO:0001583	missense	90249	exon13			ACGCAGCGGTACT	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.2056C>T	5.37:g.176305512C>T	ENSP00000332737:p.Arg686Trp	Somatic	364	1		WXS	Illumina GAIIx	Phase_I	464	35	NM_133369	0	0	0	0	0	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472252	0.63737	0.0	1.16E-4	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.51071	0.72;1.06	5.7	5.7	0.88788	.	0.214766	0.41294	D	0.000917	T	0.55130	0.1901	L	0.60455	1.87	0.24745	N	0.993017	D	0.59767	0.986	P	0.48571	0.582	T	0.56013	-0.8049	10	0.72032	D	0.01	-15.3696	18.4114	0.90552	0.0:1.0:0.0:0.0	.	686	Q6ZN44	UNC5A_HUMAN	W	686;646	ENSP00000332737:R686W;ENSP00000261961:R646W	ENSP00000261961:R646W	R	+	1	2	UNC5A	176238118	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.436000	0.44819	2.698000	0.92095	0.491000	0.48974	CGG	.		0.622	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		T	176305512	C	T	176305512	3	4	27	1	0	0	0	0	1	0	0	0	17040	759	27	1	2106	1	UNC5A	5	176305512	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	8631106	176305512	4609748	114	4674											
PDLIM7	9260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176916510	176916510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctctgcagcggcgtgggCgtggccggctggctgtgccg	20	13	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:176916510C>T	ENST00000355841.2	-	9	819	c.753G>A	c.(751-753)acG>acA	p.T251T	PDLIM7_ENST00000393551.1_Missense_Mutation_p.A231T|PDLIM7_ENST00000356618.4_Missense_Mutation_p.A231T|PDLIM7_ENST00000359895.2_Silent_p.T217T	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	251					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGCGTGGGCGTGGCCGGCT	0.692																																					p.T251T		.											.	PDLIM7-153	0			c.G753A						.						20	25	23					5																	176916510		2197	4297	6494	SO:0001819	synonymous_variant	9260	exon9			CGTGGGCGTGGCC	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.753G>A	5.37:g.176916510C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	231	118	NM_005451	0	0	0	0	0	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292359	0.59976	.	.	ENSG00000196923	ENST00000356618;ENST00000393551	T;T	0.14766	2.48;2.48	5.23	-5.06	0.02946	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.23483	N	0.99758	B	0.10296	0.003	B	0.06405	0.002	T	0.42949	-0.9421	7	.	.	.	.	8.6662	0.34123	0.0:0.2911:0.3591:0.3498	.	231	Q9NR12-4	.	T	231	ENSP00000349030:A231T;ENSP00000377182:A231T	.	A	-	1	0	PDLIM7	176849116	0.002000	0.14202	0.966000	0.40874	0.975000	0.68041	-1.409000	0.02483	-0.842000	0.04195	0.555000	0.69702	GCC	.		0.692	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		T	176916510	C	T	176916510	2	4	27	1	0	0	0	0	0	0	0	1	11723	755	27	1		1	PDLIM7	5	176916510	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	610998	176916510	3998750	115	4675											
FAM193B	54540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176951844	176951844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgcctggagcttgtaaCgtgtggttctgaggggagcc	17	9	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:176951844C>T	ENST00000514747.1	-	6	1686	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Silent_p.T513T|FAM193B_ENST00000329540.5_Silent_p.T172T	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	626						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GAGCTTGTAACGTGTGGTTCT	0.622																																					p.T546T		.											.	.	0			c.G1638A						.						20	21	21					5																	176951844		1974	4147	6121	SO:0001819	synonymous_variant	54540	exon6			TTGTAACGTGTGG		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1638G>A	5.37:g.176951844C>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	102	40	NM_001190946	0	0	17	31	14	E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.924896	0.18056	.	.	ENSG00000146067	ENST00000524677	.	.	.	4.96	0.856	0.19019	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48937	-0.8990	4	.	.	.	-0.8771	8.9026	0.35503	0.0:0.5964:0.0:0.4036	.	.	.	.	I	232	.	.	V	-	1	0	FAM193B	176884450	0.000000	0.05858	0.994000	0.49952	0.981000	0.71138	-0.785000	0.04628	0.270000	0.21984	0.561000	0.74099	GTT	.		0.622	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		T	176951844	C	T	176951844	2	4	27	1	0	0	0	0	0	0	0	1	5544	523	19	1		1	FAM193B	5	176951844	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	35334	176951844	3963416	116	4676											
B4GALT7	11285	broad.mit.edu	37	chr5	177034387	177034387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcacgacgttgacctGctccctctcaacgaggagct	10	15	1	1	rs140848441	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:177034387G>A	ENST00000029410.5	+	3	609	c.498G>A	c.(496-498)ctG>ctA	p.L166L		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	166					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)			ACGTTGACCTGCTCCCTCTCA	0.607											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	2	0.000399361	8e-04	0	5008	,	,		20849	0		0.001	False		,,,				2504	0				p.L166L		.											.	B4GALT7-91	0			c.G498A						.			0,4406		0,0,2203	125	88	100		498	4.3	1	5	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	B4GALT7	NM_007255.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		166/328	177034387	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	11285	exon3			TGACCTGCTCCCT	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.498G>A	5.37:g.177034387G>A		Somatic	183	0	1935	WXS	Illumina GAIIx	Phase_I	241	5	NM_007255	0	0	41	41	0	B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	CCDS4429.1																																																																																			G|0.999;A|0.001		0.607	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		A	177034387	G	A	177034387	2	1	27	1	0	0	0	0	0	0	0	1	1277	1306	46	3		3	B4GALT7	5	177034387	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	82543	177034387	3880873	117	4677											
MAML1	9794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179193193	179193193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggcctcagagctgtcCtctgcccaccagctccagca	12	16	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:179193193C>A	ENST00000292599.3	+	2	1445	c.1182C>A	c.(1180-1182)tcC>tcA	p.S394S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGCTGTCCTCTGCCCACC	0.652																																					p.S394S		.											.	MAML1-848	0			c.C1182A						.						43	48	46					5																	179193193		2203	4300	6503	SO:0001819	synonymous_variant	9794	exon2			GCTGTCCTCTGCC	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1182C>A	5.37:g.179193193C>A		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	130	64	NM_014757	0	0	15	22	7		Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																			.		0.652	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179193193	C	A	179193193	2	1	27	1	0	0	0	0	0	0	0	1	9243	668	24	3		3	MAML1	5	179193193	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2158806	179193193	1722067	118	4678											
FLT4	2324	broad.mit.edu	37	chr5	180051011	180051011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatcctgcgtggtcaccGccctccagtcacggcactgt	11	17	2	0	rs146167161	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr5:180051011G>A	ENST00000261937.6	-	11	1550	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	FLT4_ENST00000393347.3_Missense_Mutation_p.A491V|FLT4_ENST00000502649.1_Missense_Mutation_p.A491V|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	491	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGTCACCGCCCTCCAGTC	0.637																																					p.A491V	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.C1472T						.	G	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	79	65	70		1472,1472	2.2	1	5	dbSNP_134	70	0,8600		0,0,4300	yes	missense,missense	FLT4	NM_002020.4,NM_182925.4	64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign	491/1299,491/1364	180051011	5,13001	2203	4300	6503	SO:0001583	missense	2324	exon11			GTCACCGCCCTCC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1472C>T	5.37:g.180051011G>A	ENSP00000261937:p.Ala491Val	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	236	8	NM_182925	0	0	1	1	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662898	0.14710	0.001135	0.0	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94000	-3.33;-3.33;-3.33	4.72	2.24	0.28232	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	T	0.76666	0.4019	N	0.01352	-0.895	0.25061	N	0.99106	P;B;B;B	0.45569	0.861;0.003;0.0;0.0	B;B;B;B	0.35312	0.2;0.002;0.002;0.002	T	0.70898	-0.4747	9	0.29301	T	0.29	.	8.2106	0.31481	0.1307:0.0:0.1422:0.7271	.	491;301;491;491	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	V	491;491;491;301	ENSP00000261937:A491V;ENSP00000377016:A491V;ENSP00000426057:A491V	ENSP00000261937:A491V	A	-	2	0	FLT4	179983617	1.000000	0.71417	0.977000	0.42913	0.001000	0.01503	3.322000	0.52007	0.269000	0.21961	-1.566000	0.00877	GCG	G|0.999;A|0.001		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180051011	G	A	180051011	3	1	27	1	0	0	0	0	1	0	0	0	5966	1087	38	1	2707	1	FLT4	5	180051011	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	857818	180051011	864249	119	4679											
JARID2	3720	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	15501341	15501341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtccccagaggagcacCggcggctggagaaggaggtg	17	12	0	2	rs548954910		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:15501341C>T	ENST00000341776.2	+	8	2393	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	JARID2_ENST00000397311.3_Missense_Mutation_p.R545W|JARID2_ENST00000541660.1_Missense_Mutation_p.R679W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	717					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGAGGAGCACCGGCGGCTGGA	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		16638	0		0	False		,,,				2504	0				p.R717W		.											.	JARID2-228	0			c.C2149T						.						64	76	72					6																	15501341		2203	4300	6503	SO:0001583	missense	3720	exon8			GAGCACCGGCGGC	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2149C>T	6.37:g.15501341C>T	ENSP00000341280:p.Arg717Trp	Somatic	245	2		WXS	Illumina GAIIx	Phase_I	190	176	NM_004973	0	0	1	1	0	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855772	0.71834	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89270	-1.85;-1.85;-2.49	5.05	5.05	0.67936	.	0.249386	0.36409	N	0.002616	D	0.85234	0.5650	N	0.22421	0.69	0.36778	D	0.884166	D;D	0.67145	0.996;0.974	P;P	0.60236	0.871;0.59	D	0.88375	0.2997	10	0.72032	D	0.01	-12.152	11.7371	0.51771	0.3035:0.6965:0.0:0.0	.	679;717	F5H590;Q92833	.;JARD2_HUMAN	W	717;545;679	ENSP00000341280:R717W;ENSP00000380478:R545W;ENSP00000444623:R679W	ENSP00000341280:R717W	R	+	1	2	JARID2	15609320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.058000	0.49939	2.339000	0.79563	0.561000	0.74099	CGG	.		0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15501341	C	T	15501341	3	4	27	1	0	0	0	0	1	0	0	0	7972	643	23	1	2179	1	JARID2	6	15501341	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		15501341	155613726	120	4680											
ALDH5A1	7915	broad.mit.edu	37	chr6	24533862	24533862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtggagtgaagcagtcCggccttgggcgagaggggtc	19	7	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:24533862C>T	ENST00000357578.3	+	10	1675	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	ALDH5A1_ENST00000348925.2_Silent_p.S523S|ALDH5A1_ENST00000491546.1_Silent_p.S482S|ALDH5A1_ENST00000546278.1_Silent_p.S422S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	510					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TGAAGCAGTCCGGCCTTGGGC	0.498																																					p.S523S		.											.	ALDH5A1-90	0			c.C1569T						.						148	145	146					6																	24533862		2203	4300	6503	SO:0001819	synonymous_variant	7915	exon11			GCAGTCCGGCCTT	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1530C>T	6.37:g.24533862C>T		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	155	6	NM_170740	0	0	11	11	0	B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	CCDS4555.1																																																																																			.		0.498	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			T	24533862	C	T	24533862	2	4	27	1	0	0	0	0	0	0	0	1	502	639	23	1		1	ALDH5A1	6	24533862	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9032521	24533862	146581205	121	4681											
BAT4	7918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31630341	31630341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagcagtttgaagcccGggctggagatgggcacccca	14	12	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:31630341G>A	ENST00000375906.1	-	4	1457	c.773C>T	c.(772-774)cCg>cTg	p.P258L	GPANK1_ENST00000375893.2_Missense_Mutation_p.P258L|GPANK1_ENST00000375900.4_Missense_Mutation_p.P258L|C6orf47_ENST00000375911.1_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Missense_Mutation_p.P258L|GPANK1_ENST00000375896.4_Missense_Mutation_p.P258L|C6orf47-AS1_ENST00000422049.1_RNA	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	258	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TTTGAAGCCCGGGCTGGAGAT	0.642																																					p.P258L		.											.	GPANK1-91	0			c.C773T						.						40	49	46					6																	31630341		1511	2708	4219	SO:0001583	missense	7918	exon4			AAGCCCGGGCTGG		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.773C>T	6.37:g.31630341G>A	ENSP00000365071:p.Pro258Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	76	65	NM_001199238	0	0	2	34	32	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897081	0.52121	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	4.85	4.85	0.62838	D111/G-patch (3);	0.283792	0.33534	N	0.004812	T	0.13286	0.0322	N	0.14661	0.345	0.47547	D	0.999458	D	0.58268	0.982	P	0.50490	0.642	T	0.04870	-1.0921	10	0.27785	T	0.31	-24.5289	15.4974	0.75666	0.0:0.0:1.0:0.0	.	258	O95872	GPAN1_HUMAN	L	258	ENSP00000365071:P258L;ENSP00000365060:P258L;ENSP00000365057:P258L;ENSP00000365059:P258L;ENSP00000365065:P258L	ENSP00000365057:P258L	P	-	2	0	GPANK1	31738320	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.394000	0.52551	2.519000	0.84933	0.655000	0.94253	CCG	.		0.642	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		A	31630341	G	A	31630341	3	1	27	1	0	0	0	0	1	0	0	0	1324	1116	39	1	301	1	BAT4	6	31630341	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	7096479	31630341	139484726	122	4682											
C2	717	broad.mit.edu	37	chr6	31895915	31895915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccccaggagccacccGgtctctgtctaaggcggtct	12	15	3	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:31895915G>A	ENST00000299367.5	+	2	506	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	C2_ENST00000418949.2_Missense_Mutation_p.R77Q|CFB_ENST00000456570.1_Missense_Mutation_p.R77Q|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.R77Q|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R77Q|C2_ENST00000442278.2_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	77	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)		GGAGCCACCCGGTCTCTGTCT	0.622																																					p.R77Q		.											.	C2-92	0			c.G230A						.						14	15	15					6																	31895915		2198	4296	6494	SO:0001583	missense	717	exon2			CCACCCGGTCTCT		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.230G>A	6.37:g.31895915G>A	ENSP00000299367:p.Arg77Gln	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	28	3	NM_000063	0	0	0	0	0	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315510	0.60524	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;D;T;T;D;D;D	0.82081	1.43;-1.5;1.2;1.24;-1.57;-1.57;-1.53	5.22	-1.45	0.08828	Complement control module (2);Sushi/SCR/CCP (1);	0.222643	0.23108	N	0.051834	T	0.40619	0.1124	.	.	.	0.09310	N	1	B;B;B	0.25312	0.041;0.041;0.123	B;B;B	0.12837	0.006;0.006;0.008	T	0.30327	-0.9982	9	0.22706	T	0.39	-9.8824	1.9286	0.03322	0.2367:0.2409:0.3994:0.123	.	77;77;77	B4E1Z4;P06681;Q8N6L6	.;CO2_HUMAN;.	Q	77	ENSP00000403325:R77Q;ENSP00000299367:R77Q;ENSP00000391354:R77Q;ENSP00000406190:R77Q;ENSP00000451848:R77Q;ENSP00000410815:R77Q;ENSP00000418996:R77Q	ENSP00000299367:R77Q	R	+	2	0	CFB;C2;XXbac-BPG116M5.17	32003894	0.000000	0.05858	0.004000	0.12327	0.522000	0.34438	-0.553000	0.06012	0.032000	0.15435	0.655000	0.94253	CGG	.		0.622	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			A	31895915	G	A	31895915	3	1	27	1	0	0	0	0	1	0	0	0	2081	1116	39	1	313	1	C2	6	31895915	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	265574	31895915	139219152	123	4683											
HLA-DQB1	3119	bcgsc.ca	37	chr6	32632770	32632770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctcggttatagatgtAtctggtcacaagacgcacgc	9	12	3	2	rs551086568		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:32632770A>G	ENST00000399084.1	-	3	362	c.184T>C	c.(184-186)Tac>Cac	p.Y62H	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.Y62H|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.Y62H|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.Y62H|HLA-DQB1_ENST00000399082.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	62	Beta-1.		Y -> H (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:07, allele DQB1*06:08, allele DQB1*06:14, allele DQB1*06:17, allele DQB1*06:21, allele DQB1*06:25, allele DQB1*06:27, allele DQB1*06:28, allele DQB1*06:30, allele DQB1*06:31, allele DQB1*06:32, allele DQB1*06:34, allele DQB1*06:36, allele DQB1*06:38 and allele DQB1*06:39).|Y -> S (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 and allele DQB1*02:05).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TTATAGATGTATCTGGTCACA	0.612									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.Y62H	Esophageal Squamous(151;720 1825 15000 40336 43415)	.											.	HLA-DQB1-22	0			c.T184C						.	A	HIS/TYR	1073,3123		281,511,1306	32	33	33		184	-0.1	0	6	dbSNP_86	33	2407,5957		687,1033,2462	yes	missense	HLA-DQB1	NM_002123.4	83	968,1544,3768	GG,GA,AA		28.7781,25.572,27.707	benign	62/262	32632770	3480,9080	2098	4182	6280	SO:0001583	missense	3119	exon2	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	AGATGTATCTGGT		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.184T>C	6.37:g.32632770A>G	ENSP00000382034:p.Tyr62His	Somatic	264	1		WXS	Illumina GAIIx	Phase_I	232	8	NM_002123	0	0	6	6	0	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399084.1	37	CCDS43451.1	602	0.27564102564102566	143	0.29065040650406504	105	0.2900552486187845	108	0.1888111888111888	246	0.3245382585751979	.	2.199	-0.383452	0.04966	0.25572	0.287781	ENSG00000179344	ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084	T;T;T;T	0.00327	8.09;8.09;8.09;8.09	3.91	-0.0624	0.13780	.	0.800219	0.11126	U	0.596956	T	0.00073	0.0002	L	0.47016	1.485	0.80722	P	0.0	B;B;B;B	0.21520	0.057;0.006;0.002;0.002	B;B;B;B	0.30179	0.112;0.029;0.029;0.019	T	0.08006	-1.0743	9	0.39692	T	0.17	.	4.3567	0.11181	0.6308:0.1709:0.1983:0.0	rs1049069;rs3189148;rs9274404;rs12722119;rs16868409;rs28588809	72;62;27;62	Q59F80;A2AAZ0;A2VCT9;Q5Y7D6	.;.;.;.	H	62	ENSP00000382029:Y62H;ENSP00000364080:Y62H;ENSP00000407332:Y62H;ENSP00000382034:Y62H	ENSP00000364080:Y62H	Y	-	1	0	HLA-DQB1	32740748	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.539000	0.06113	-0.159000	0.11021	-0.902000	0.02854	TAC	T|0.524;G|0.096;C|0.174;A|0.206		0.612	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		G	32632770	A	G	32632770	3	3	27	1	0	0	0	0	1	0	0	0	7233	449	16	4	617	4	HLA-DQB1	6	32632770	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	736855	32632770	138482297	124	4684											
TREML2	79865	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41165918	41165918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgcgcatgcaccagtatCggcctgagtcctggagcttg	13	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:41165918C>T	ENST00000483722.1	-	2	490	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	102	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACCAGTATCGGCCTGAGTC	0.617																																					p.R102Q		.											.	TREML2-91	0			c.G305A						.																																			SO:0001583	missense	79865	exon2			CAGTATCGGCCTG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.305G>A	6.37:g.41165918C>T	ENSP00000418767:p.Arg102Gln	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	61	41	NM_024807	0	0	0	0	0	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587260	0.46110	.	.	ENSG00000112195	ENST00000483722	T	0.65732	-0.17	4.75	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531902	0.15016	N	0.285286	T	0.53077	0.1774	L	0.50993	1.605	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.32534	-0.9903	10	0.25106	T	0.35	-16.2612	5.4267	0.16429	0.0:0.7115:0.0:0.2885	.	102	Q5T2D2	TRML2_HUMAN	Q	102	ENSP00000418767:R102Q	ENSP00000418767:R102Q	R	-	2	0	TREML2	41273896	0.004000	0.15560	0.290000	0.24890	0.527000	0.34593	0.139000	0.16036	1.136000	0.42199	-0.222000	0.12452	CGA	.		0.617	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41165918	C	T	41165918	3	4	27	1	0	0	0	0	1	0	0	0	16521	884	31	1	676	1	TREML2	6	41165918	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	8533148	41165918	129949149	125	4685											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_000287	0	0	0	11	11	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	27	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1780572	42946490	128168577	126	4686											
SLC35B2	347734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	44222512	44222512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttagacggccccgcgcGtagactctgagcaggagggc	15	12	1	3	rs146186426		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:44222512G>A	ENST00000393812.3	-	4	1373	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Silent_p.Y277Y|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_Silent_p.Y317Y	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	410					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCCGCGCGTAGACTCTGA	0.582													g|||	1	0.000199681	0	0	5008	,	,		18082	0.001		0	False		,,,				2504	0				p.Y410Y		.											.	SLC35B2-91	0			c.C1230T						.	G		0,4406		0,0,2203	89	91	91		1230	-6.1	0.9	6	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC35B2	NM_178148.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		410/433	44222512	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	347734	exon4			CCGCGCGTAGACT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1230C>T	6.37:g.44222512G>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	113	103	NM_178148	0	0	1	109	108	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																			G|1.000;A|0.000		0.582	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			A	44222512	G	A	44222512	2	1	27	1	0	0	0	0	0	0	0	1	14621	1140	40	1		1	SLC35B2	6	44222512	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1276022	44222512	126892555	127	4687											
BEND3	57673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	107390834	107390834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagcggcgacccggccGctcgccctcgaagctgtcct	13	17	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:107390834G>A	ENST00000369042.1	-	4	1751	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	BEND3_ENST00000429433.2_Missense_Mutation_p.R521W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	521										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGACCCGGCCGCTCGCCCTCG	0.642																																					p.R521W		.											.	BEND3-71	0			c.C1561T						.						22	22	22					6																	107390834		2203	4298	6501	SO:0001583	missense	57673	exon5			CCGGCCGCTCGCC	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1561C>T	6.37:g.107390834G>A	ENSP00000358038:p.Arg521Trp	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	28	25	NM_001080450	0	0	0	2	2	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954560	0.34471	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	3.17	0.36434	.	0.119716	0.53938	D	0.000049	T	0.41926	0.1180	N	0.19112	0.55	0.36713	D	0.880757	D	0.76494	0.999	P	0.60541	0.876	T	0.52830	-0.8523	9	0.87932	D	0	-41.6253	12.8775	0.57998	0.0:0.0:0.4895:0.5105	.	521	Q5T5X7	BEND3_HUMAN	W	521	.	ENSP00000358038:R521W	R	-	1	2	BEND3	107497527	1.000000	0.71417	0.999000	0.59377	0.243000	0.25628	4.307000	0.59123	1.331000	0.45412	0.561000	0.74099	CGG	.		0.642	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		A	107390834	G	A	107390834	3	1	27	1	0	0	0	0	1	0	0	0	1400	1086	38	1	929	1	BEND3	6	107390834	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	63168322	107390834	63724233	128	4688											
TULP4	56995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158900783	158900783	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccttcacttcctgccagCgccccatcatctccatctgc	4	20	4	0	rs372249713		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr6:158900783C>T	ENST00000367097.3	+	7	2384	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	TULP4_ENST00000367094.2_Splice_Site_p.R343C	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	343					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)		TTCCTGCCAGCGCCCCATCAT	0.527																																					p.R343C		.											.	TULP4-91	0			c.C1027T						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	50	46	48		1027,1027	5.6	1	6		48	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	TULP4	NM_001007466.1,NM_020245.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	343/679,343/1544	158900783	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	56995	exon7			TGCCAGCGCCCCA		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.1027-1C>T	6.37:g.158900783C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	56	52	NM_020245	0	0	0	0	0	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779279	0.49891	0.0	1.16E-4	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.17528	2.27;2.27	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.175606	0.48286	D	0.000199	T	0.10252	0.0251	M	0.62723	1.935	0.80722	D	1	B;B;B	0.15473	0.01;0.003;0.013	B;B;B	0.12156	0.003;0.002;0.007	T	0.04229	-1.0967	9	.	.	.	-8.2657	13.9093	0.63857	0.0:0.9273:0.0:0.0727	.	343;343;343	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	C	343	ENSP00000356064:R343C;ENSP00000356061:R343C	.	R	+	1	0	TULP4	158820771	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.461000	0.53035	2.651000	0.90000	0.561000	0.74099	CGC	.		0.527	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	Missense_Mutation	T	158900783	C	T	158900783	5	4	27	1	0	0	0	0	0	0	1	0	16825	782	27	1	1053	1	TULP4	6	158900783	Splice_Site	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	51509949	158900783	12214284	129	4689											
HEATR2	54919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	780485	780485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtggcctccgtggtgggCggctggctgctgtgtctgcg	20	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:780485C>T	ENST00000297440.6	+	3	830	c.810C>T	c.(808-810)ggC>ggT	p.G270G	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Silent_p.G270G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	270						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)		CCGTGGTGGGCGGCTGGCTGC	0.642																																					p.G270G		.											.	HEATR2-69	0			c.C810T						.						157	150	152					7																	780485		2203	4300	6503	SO:0001819	synonymous_variant	54919	exon3			GGTGGGCGGCTGG	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.810C>T	7.37:g.780485C>T		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	105	80	NM_017802	0	0	1	7	6	Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	0.786	-0.760600	0.02996	.	.	ENSG00000164818	ENST00000437419;ENST00000440747	.	.	.	4.72	-6.4	0.01944	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39502	-0.9611	4	.	.	.	-50.8142	3.6135	0.08069	0.2434:0.3755:0.2888:0.0923	.	.	.	.	W	43;72	.	.	R	+	1	2	HEATR2	747011	0.557000	0.26546	0.396000	0.26296	0.044000	0.14063	-0.296000	0.08287	-1.328000	0.02261	-1.157000	0.01802	CGG	.		0.642	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		T	780485	C	T	780485	2	4	27	1	0	0	0	0	0	0	0	1	7055	755	27	1		1	HEATR2	7	780485	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		780485	158358178	130	4690											
SDK1	221935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	4169611	4169611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggaaccacacgcagtcGgccctgctggcaggcctgcg	15	15	0	0	rs537498277		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:4169611G>A	ENST00000404826.2	+	27	4150	c.4011G>A	c.(4009-4011)tcG>tcA	p.S1337S	SDK1_ENST00000389531.3_Silent_p.S1337S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1337	Fibronectin type-III 7. {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)		ACACGCAGTCGGCCCTGCTGG	0.647																																					p.S1337S		.											.	SDK1-138	0			c.G4011A						.						56	53	54					7																	4169611		2203	4299	6502	SO:0001819	synonymous_variant	221935	exon27			GCAGTCGGCCCTG	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.4011G>A	7.37:g.4169611G>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	92	86	NM_152744	0	0	0	0	0	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																			.		0.647	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4169611	G	A	4169611	2	1	27	1	0	0	0	0	0	0	0	1	14013	1103	39	1		1	SDK1	7	4169611	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3389126	4169611	154969052	131	4691											
PMS2	5395	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	6042243	6042243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaaccttcgccgatgcGtggcaggtagaaatggtgac	13	10	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:6042243G>A	ENST00000265849.7	-	5	483	c.378C>T	c.(376-378)caC>caT	p.H126H	PMS2_ENST00000382321.4_Silent_p.H126H|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.H126H|PMS2_ENST00000441476.2_Silent_p.H20H|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	126					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCGCCGATGCGTGGCAGGTAG	0.517			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.H126H		.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2-1083	0			c.C378T						.						116	115	115					7																	6042243		2203	4300	6503	SO:0001819	synonymous_variant	5395	exon5	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	CGATGCGTGGCAG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.378C>T	7.37:g.6042243G>A		Somatic	107	1		WXS	Illumina GAIIx	Phase_I	72	8	NM_000535	0	0	13	13	0	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																			.		0.517	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		A	6042243	G	A	6042243	2	1	27	1	0	0	0	0	0	0	0	1	12182	1136	40	1		1	PMS2	7	6042243	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1872632	6042243	153096420	132	4692											
C7orf26	79034	broad.mit.edu	37	chr7	6639759	6639759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaaactccacctcagcGtcctgcaagtgctcatgacg	7	15	3	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:6639759G>A	ENST00000344417.5	+	4	1147	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	C7orf26_ENST00000359073.5_Splice_Site_p.V197I|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	294										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CCACCTCAGCGTCCTGCAAGT	0.577																																					p.V294I		.											.	C7orf26-91	0			c.G880A						.						64	51	55					7																	6639759		2203	4300	6503	SO:0001583	missense	79034	exon4			CTCAGCGTCCTGC	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.880G>A	7.37:g.6639759G>A	ENSP00000340220:p.Val294Ile	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_024067	0	0	16	16	0	Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.613155|3.613155	0.66672|0.66672	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000445375|ENST00000344417;ENST00000359073	.|T;T	.|0.39592	.|1.07;1.15	5.08|5.08	4.2|4.2	0.49525|0.49525	.|.	.|0.053882	.|0.85682	.|D	.|0.000000	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.36672|0.36672	1.1|1.1	0.29997|0.29997	N|N	0.816338|0.816338	.|B;B	.|0.22983	.|0.078;0.078	.|B;B	.|0.17098	.|0.012;0.017	T|T	0.18085|0.18085	-1.0348|-1.0348	5|10	.|0.12766	.|T	.|0.61	-38.8368|-38.8368	8.505|8.505	0.33181|0.33181	0.1805:0.0:0.8195:0.0|0.1805:0.0:0.8195:0.0	.|.	.|197;294	.|Q96N11-2;Q96N11	.|.;CG026_HUMAN	H|I	31|294;197	.|ENSP00000340220:V294I;ENSP00000351974:V197I	.|ENSP00000340220:V294I	R|V	+|+	2|1	0|0	C7orf26|C7orf26	6606284|6606284	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.655000|0.655000	0.38815|0.38815	4.654000|4.654000	0.61469|0.61469	1.462000|1.462000	0.47948|0.47948	0.555000|0.555000	0.69702|0.69702	CGT|GTC	.		0.577	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		A	6639759	G	A	6639759	3	1	27	1	0	0	0	0	1	0	0	0	2388	1145	40	1	894	1	C7orf26	7	6639759	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	597516	6639759	152498904	133	4693											
HECW1	23072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	43351432	43351432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaactcccagagccgacGccggtgcaaggagccgctcc	12	15	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:43351432G>A	ENST00000395891.2	+	4	703	c.98G>A	c.(97-99)cGc>cAc	p.R33H	HECW1_ENST00000453890.1_Missense_Mutation_p.R33H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	33					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAGCCGACGCCGGTGCAAG	0.607																																					p.R33H		.											.	HECW1-669	0			c.G98A						.						52	59	57					7																	43351432		1950	4134	6084	SO:0001583	missense	23072	exon4			GCCGACGCCGGTG	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.98G>A	7.37:g.43351432G>A	ENSP00000379228:p.Arg33His	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	84	8	NM_015052	0	0	0	0	0	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	33	5.196408	0.94960	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.3;1.3	5.96	5.96	0.96718	.	0.183297	0.48767	D	0.000161	T	0.57607	0.2065	M	0.66939	2.045	0.58432	D	0.999992	D;D;D	0.71674	0.998;0.998;0.994	P;P;P	0.58970	0.849;0.77;0.656	T	0.56111	-0.8033	10	0.59425	D	0.04	.	20.3928	0.98949	0.0:0.0:1.0:0.0	.	33;65;33	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	H	33;33;32	ENSP00000379228:R33H;ENSP00000407774:R33H	ENSP00000265522:R32H	R	+	2	0	HECW1	43317957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.140000	0.77322	2.813000	0.96785	0.655000	0.94253	CGC	.		0.607	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43351432	G	A	43351432	3	1	27	1	0	0	0	0	1	0	0	0	7069	1087	38	1	104	1	HECW1	7	43351432	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	36711673	43351432	115787231	134	4694											
PHKG1	5260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	56149873	56149873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtccacctctttcccGtagcccgggtggtcctcatt	8	16	2	0	rs544129411	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:56149873G>A	ENST00000297373.2	-	7	815	c.621C>T	c.(619-621)taC>taT	p.Y207Y	PHKG1_ENST00000452681.2_Silent_p.Y239Y|PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000537360.1_Silent_p.Y153Y	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTCTTTCCCGTAGCCCGGGT	0.637													G|||	2	0.000399361	0	0	5008	,	,		17889	0		0	False		,,,				2504	0.002				p.Y239Y	Melanoma(184;580 2064 5329 24177 35303)	.											.	PHKG1-424	0			c.C717T						.						85	81	83					7																	56149873		2203	4300	6503	SO:0001819	synonymous_variant	5260	exon8			TTTCCCGTAGCCC	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.621C>T	7.37:g.56149873G>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	73	63	NM_001258459	0	0	0	4	4	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																			.		0.637	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		A	56149873	G	A	56149873	2	1	27	1	0	0	0	0	0	0	0	1	11885	1140	40	1		1	PHKG1	7	56149873	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	12798441	56149873	102988790	135	4695											
GTPBP10	85865	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	89982177	89982177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaccaggggaggatcCggtggaatgggttatcctcg	14	10	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:89982177C>T	ENST00000222511.6	+	2	147	c.81C>T	c.(79-81)tcC>tcT	p.S27S	GTPBP10_ENST00000257659.8_Silent_p.S27S	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	27					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GGGGAGGATCCGGTGGAATGG	0.388											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S27S		.											.	GTPBP10-68	0			c.C81T						.						166	162	163					7																	89982177		2203	4300	6503	SO:0001819	synonymous_variant	85865	exon2			AGGATCCGGTGGA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.81C>T	7.37:g.89982177C>T		Somatic	165	2	1271	WXS	Illumina GAIIx	Phase_I	102	94	NM_001042717	0	0	0	1	1	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Silent	SNP	ENST00000222511.6	37	CCDS5617.1																																																																																			.		0.388	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		T	89982177	C	T	89982177	2	4	27	1	0	0	0	0	0	0	0	1	6906	639	23	1		1	GTPBP10	7	89982177	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	33832304	89982177	69156486	136	4696											
TSC22D4	81628	bcgsc.ca	37	chr7	100064719	100064719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgttccgctccgccaAttcccggatctgctccttca	8	18	2	0	rs7806537	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:100064719A>G	ENST00000300181.2	-	5	1805	c.1051T>C	c.(1051-1053)Ttg>Ctg	p.L351L	TSC22D4_ENST00000496728.1_Intron|C7orf61_ENST00000332375.3_5'Flank|TSC22D4_ENST00000393991.1_Silent_p.L112L	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	351	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTCCGCCAATTCCCGGATC	0.692													G|||	1684	0.336262	0.4478	0.2651	5008	,	,		16634	0.0972		0.3956	False		,,,				2504	0.4213				p.L351L		.											.	TSC22D4-220	0			c.T1051C						.	G		1922,2484	624.6+/-394.4	428,1066,709	50	51	51		1051	3.3	1	7	dbSNP_116	51	3333,5267	643.3+/-399.9	640,2053,1607	no	coding-synonymous	TSC22D4	NM_030935.3		1068,3119,2316	GG,GA,AA		38.7558,43.6223,40.4044		351/396	100064719	5255,7751	2203	4300	6503	SO:0001819	synonymous_variant	81628	exon5			CCGCCAATTCCCG	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.1051T>C	7.37:g.100064719A>G		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	93	5	NM_030935	0	0	425	425	0	A4D2C3|A8MWR6|D6W5V9	Silent	SNP	ENST00000300181.2	37	CCDS5695.1																																																																																			A|0.644;G|0.356		0.692	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		G	100064719	A	G	100064719	2	3	27	1	0	0	0	0	0	0	0	1	16658	98	4	4		4	TSC22D4	7	100064719	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	10082542	100064719	59073944	137	4697											
DOCK4	9732	broad.mit.edu	37	chr7	111629088	111629088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcattgccccagtcaagcCgggcagtaatgtggcgcttc	11	13	2	0	rs200422451		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:111629088C>T	ENST00000437633.1	-	6	702	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	DOCK4_ENST00000428084.1_Missense_Mutation_p.R149Q|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	149					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)				CCAGTCAAGCCGGGCAGTAAT	0.562													C|||	1	0.000199681	0	0	5008	,	,		17153	0		0.001	False		,,,				2504	0				p.R149Q		.											.	DOCK4-26	0			c.G446A						.						60	61	61					7																	111629088		2058	4187	6245	SO:0001583	missense	9732	exon6			TCAAGCCGGGCAG		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.446G>A	7.37:g.111629088C>T	ENSP00000404179:p.Arg149Gln	Somatic	177	1		WXS	Illumina GAIIx	Phase_I	117	4	NM_014705	0	0	0	0	0	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	33|33	5.278894|5.278894	0.95489|0.95489	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.02916	.|4.11;4.11	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.051904	.|0.85682	.|D	.|0.000000	T|T	0.06600|0.06600	0.0169|0.0169	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B;P;P;P	.|0.48503	.|0.452;0.911;0.821;0.821	.|B;B;B;B	.|0.43225	.|0.109;0.298;0.412;0.298	T|T	0.36237|0.36237	-0.9756|-0.9756	5|10	.|0.34782	.|T	.|0.22	.|.	18.9739|18.9739	0.92728|0.92728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|149;149;149;149	.|A4D0S8;Q149N6;Q149N5;Q8N1I0	.|.;.;.;DOCK4_HUMAN	S|Q	137|137;149;149;137;148	.|ENSP00000410746:R149Q;ENSP00000404179:R149Q	.|ENSP00000345432:R137Q	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111416324|111416324	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.707000|0.707000	0.40811|0.40811	7.768000|7.768000	0.85345|0.85345	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGC|CGG	C|0.999;T|0.000		0.562	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111629088	C	T	111629088	3	4	27	1	0	0	0	0	1	0	0	0	4703	652	23	1	5642	1	DOCK4	7	111629088	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	11564369	111629088	47509575	138	4698											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	131913155	131913155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggatggaccgtcagccGgacacactgcttcatctccg	12	13	3	0	rs374091023		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:131913155G>A	ENST00000359827.3	-	6	2640	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R560W			Q9HCM2	PLXA4_HUMAN	plexin A4	560					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						ACCGTCAGCCGGACACACTGC	0.587																																					p.R560W		.											.	PLXNA4-91	0			c.C1678T						.	G	TRP/ARG	0,3982		0,0,1991	82	87	85		1678	5	1	7		85	1,8337		0,1,4168	no	missense	PLXNA4	NM_020911.1	101	0,1,6159	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	560/1895	131913155	1,12319	1991	4169	6160	SO:0001583	missense	91584	exon6			TCAGCCGGACACA	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.1678C>T	7.37:g.131913155G>A	ENSP00000352882:p.Arg560Trp	Somatic	219	1		WXS	Illumina GAIIx	Phase_I	129	115	NM_020911	0	0	0	1	1	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947924	0.92593	0.0	1.2E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.22945	1.93;1.93	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.51657	0.676	T	0.07790	-1.0754	10	0.66056	D	0.02	.	16.3156	0.82923	0.0:0.0:0.8667:0.1333	.	560	Q9HCM2	PLXA4_HUMAN	W	560	ENSP00000323194:R560W;ENSP00000352882:R560W	ENSP00000323194:R560W	R	-	1	2	PLXNA4	131563695	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.637000	0.54324	1.457000	0.47850	0.655000	0.94253	CGG	.		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131913155	G	A	131913155	3	1	27	1	0	0	0	0	1	0	0	0	12161	1115	39	1	4114	1	PLXNA4	7	131913155	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	20284067	131913155	27225508	139	4699											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	151864452	151864452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcttcatactgcttacGctgtgaatcatctgaggaaa	7	11	4	2	rs145072739		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr7:151864452G>A	ENST00000262189.6	-	42	9747	c.9529C>T	c.(9529-9531)Cgt>Tgt	p.R3177C	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3177C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3177	Gln-rich.				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)										TACTGCTTACGCTGTGAATCA	0.353																																					p.R3177C		.											.	MLL3-1398	0			c.C9529T						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	65	65	65		9529	4.9	1	7	dbSNP_134	65	0,8600		0,0,4300	no	missense	MLL3	NM_170606.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3177/4912	151864452	1,13005	2203	4300	6503	SO:0001583	missense	58508	exon42			GCTTACGCTGTGA	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.9529C>T	7.37:g.151864452G>A	ENSP00000262189:p.Arg3177Cys	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	31	30	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.87|10.87	1.471469|1.471469	0.26423|0.26423	2.27E-4|2.27E-4	0.0|0.0	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.85339	.|-1.96;-1.97	5.83|5.83	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.42821	.|D	.|0.000652	D|D	0.90813|0.90813	0.7115|0.7115	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.995;0.996;0.95	D|D	0.91189|0.91189	0.4982|0.4982	5|10	.|0.87932	.|D	.|0	.|.	13.631|13.631	0.62196|0.62196	0.0:0.0:0.7379:0.2621|0.0:0.0:0.7379:0.2621	.|.	.|3177;2238;3177	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	V|C	682|3177	.|ENSP00000262189:R3177C;ENSP00000347325:R3177C	.|ENSP00000262189:R3177C	A|R	-|-	2|1	0|0	MLL3|MLL3	151495385|151495385	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.583000|0.583000	0.36354|0.36354	2.734000|2.734000	0.47368|0.47368	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GCG|CGT	G|1.000;A|0.000		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151864452	G	A	151864452	3	1	27	1	0	0	0	0	1	0	0	0	9660	1087	38	1	5278	1	MLL3	7	151864452	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	19951297	151864452	7274211	140	4700											
SGK223	157285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	8185743	8185743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcgtggacgttggtttccGagtggcttaggttcagcttg	15	8	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:8185743G>A	ENST00000520004.1	-	5	2813	c.2549C>T	c.(2548-2550)tCg>tTg	p.S850L	SGK223_ENST00000330777.4_Missense_Mutation_p.S850L			Q86YV5	SG223_HUMAN		852							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTTGGTTTCCGAGTGGCTTAG	0.572																																					p.S850L	GBM(34;731 755 10259 33573 33867)	.											.	.	0			c.C2549T						.						162	174	170					8																	8185743		2000	4157	6157	SO:0001583	missense	0	exon4			GTTTCCGAGTGGC																												ENST00000520004.1:c.2549C>T	8.37:g.8185743G>A	ENSP00000428054:p.Ser850Leu	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	142	58	NM_001080826	0	0	2	2	0	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707372	0.89018	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.63255	-0.03;-0.03	4.97	4.97	0.65823	.	0.413857	0.21567	N	0.072474	T	0.77061	0.4075	L	0.56769	1.78	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.78516	-0.2174	10	0.87932	D	0	.	17.7673	0.88482	0.0:0.0:1.0:0.0	.	850	Q86YV5	SG223_HUMAN	L	850	ENSP00000330930:S850L;ENSP00000428054:S850L	ENSP00000330930:S850L	S	-	2	0	AC068353.1	8223153	1.000000	0.71417	0.970000	0.41538	0.873000	0.50193	8.835000	0.92100	2.751000	0.94390	0.563000	0.77884	TCG	.		0.572	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8185743	G	A	8185743	3	1	27	1	0	0	0	0	1	0	0	0	14255	1059	37	1	1667	1	SGK223	8	8185743	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		8185743	138178279	141	4701											
SOX7	83595	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	10583913	10583913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgggcagggcagtgcCgggggagtactcacccctgt	18	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:10583913C>T	ENST00000304501.1	-	2	580	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	SOX7_ENST00000553390.1_Missense_Mutation_p.G220S|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Missense_Mutation_p.G220S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	168					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGGCAGTGCCGGGGGAGTAC	0.726																																					p.G168S		.											.	SOX7-522	0			c.G502A						.						16	17	16					8																	10583913		2201	4289	6490	SO:0001583	missense	83595	exon2			CAGTGCCGGGGGA	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.502G>A	8.37:g.10583913C>T	ENSP00000301921:p.Gly168Ser	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	75	39	NM_031439	0	0	0	0	0	B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390414	0.11581	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99519	-5.12;-6.07;-6.07	4.42	1.6	0.23607	.	0.517672	0.21800	N	0.068924	D	0.96611	0.8894	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.003;0.003	D	0.92643	0.6126	10	0.23302	T	0.38	.	6.661	0.23014	0.0:0.5395:0.2938:0.1667	.	220;168	B4DKV0;Q9BT81	.;SOX7_HUMAN	S	168;220;220	ENSP00000301921:G168S;ENSP00000452017:G220S;ENSP00000451145:G220S	ENSP00000346908:G220S	G	-	1	0	SOX7;CTD-2135J3.4	10621323	0.000000	0.05858	0.000000	0.03702	0.388000	0.30384	-0.035000	0.12205	0.127000	0.18452	-1.036000	0.02392	GGC	.		0.726	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			T	10583913	C	T	10583913	3	4	27	1	0	0	0	0	1	0	0	0	15001	652	23	1	668	1	SOX7	8	10583913	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2398170	10583913	135780109	142	4702											
DLC1	10395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	12950218	12950218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctggttttcttttaCggctgctgtgacatcgctca	10	10	4	1	rs370207065		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:12950218C>T	ENST00000276297.4	-	13	4052	c.3643G>A	c.(3643-3645)Gta>Ata	p.V1215I	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.V704I|DLC1_ENST00000512044.2_Missense_Mutation_p.V812I|DLC1_ENST00000358919.2_Missense_Mutation_p.V778I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1215	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCTTTTACGGCTGCTGTG	0.557																																					p.V1215I		.											.	DLC1-657	0			c.G3643A						.	C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	118	101	107		2110,2332,3643	5	0.1	8		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	704/1018,778/1092,1215/1529	12950218	1,13005	2203	4300	6503	SO:0001583	missense	10395	exon13			CTTTTACGGCTGC	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3643G>A	8.37:g.12950218C>T	ENSP00000276297:p.Val1215Ile	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	226	112	NM_182643	0	0	3	5	2	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247913	0.95305	0.0	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.62088	1.915	0.80722	D	1	P;D;D	0.71674	0.932;0.998;0.977	B;D;P	0.79108	0.428;0.992;0.777	T	0.39210	-0.9625	10	0.72032	D	0.01	.	18.8136	0.92068	0.0:1.0:0.0:0.0	.	1215;812;778	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	1215;778;154;812;704	ENSP00000276297:V1215I;ENSP00000351797:V778I;ENSP00000422595:V812I;ENSP00000428028:V704I	ENSP00000276297:V1215I	V	-	1	0	DLC1	12994589	1.000000	0.71417	0.110000	0.21437	0.849000	0.48306	5.860000	0.69546	2.765000	0.95021	0.650000	0.86243	GTA	.		0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12950218	C	T	12950218	3	4	27	1	0	0	0	0	1	0	0	0	4564	536	19	1	967	1	DLC1	8	12950218	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2366305	12950218	133413804	143	4703											
MTUS1	57509	broad.mit.edu;bcgsc.ca	37	chr8	17611345	17611345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctaatcctatcaatgtTgggaacataggtcatttcca	9	8	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:17611345T>C	ENST00000262102.6	-	2	2196	c.1972A>G	c.(1972-1974)Aac>Gac	p.N658D	MTUS1_ENST00000519263.1_Missense_Mutation_p.N658D|MTUS1_ENST00000381862.3_Missense_Mutation_p.N658D|MTUS1_ENST00000381869.3_Missense_Mutation_p.N658D	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	658					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)		CTATCAATGTTGGGAACATAG	0.398																																					p.N658D		.											.	MTUS1-92	0			c.A1972G						.						150	132	138					8																	17611345		1860	4087	5947	SO:0001583	missense	57509	exon2			CAATGTTGGGAAC	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.1972A>G	8.37:g.17611345T>C	ENSP00000262102:p.Asn658Asp	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	212	8	NM_001001924	0	0	16	16	0	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	1.334	-0.596030	0.03771	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.37584	2.85;1.19;2.85;1.94	4.08	-7.78	0.01223	.	0.852307	0.09758	N	0.759688	T	0.22282	0.0537	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29301	0.241;0.096;0.184	B;B;B	0.31290	0.127;0.049;0.098	T	0.19811	-1.0294	10	0.40728	T	0.16	-0.2059	13.2364	0.59971	0.0:0.0642:0.5696:0.3662	.	658;658;658	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	D	658	ENSP00000371293:N658D;ENSP00000262102:N658D;ENSP00000430167:N658D;ENSP00000371286:N658D	ENSP00000262102:N658D	N	-	1	0	MTUS1	17655625	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.031000	0.13710	-2.098000	0.00850	-1.255000	0.01485	AAC	.		0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		C	17611345	T	C	17611345	3	2	27	1	0	0	0	0	1	0	0	0	10003	1812	63	4	2215	4	MTUS1	8	17611345	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	4661127	17611345	128752677	144	4704											
SH2D4A	63898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	19221709	19221709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgcaaagccccttgcGtgttccgcagaaaccagaaa	11	12	0	2	rs552781847		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:19221709G>A	ENST00000265807.3	+	7	1244	c.833G>A	c.(832-834)cGt>cAt	p.R278H	SH2D4A_ENST00000519207.1_Missense_Mutation_p.R278H|SH2D4A_ENST00000518040.1_Missense_Mutation_p.R233H	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	278					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCCCCTTGCGTGTTCCGCAG	0.532																																					p.R278H		.											.	SH2D4A-90	0			c.G833A						.						83	82	82					8																	19221709		2203	4300	6503	SO:0001583	missense	63898	exon7			CCTTGCGTGTTCC	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.833G>A	8.37:g.19221709G>A	ENSP00000265807:p.Arg278His	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	121	60	NM_022071	0	0	9	13	4	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657677	0.29425	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.12039	2.72;2.72;2.72	5.17	0.836	0.18891	.	1.096820	0.06789	N	0.786720	T	0.06600	0.0169	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.39333	-0.9619	10	0.46703	T	0.11	.	5.4941	0.16793	0.1945:0.3116:0.4938:0.0	.	233;278	B4DDR1;Q9H788	.;SH24A_HUMAN	H	278;233;278	ENSP00000265807:R278H;ENSP00000429482:R233H;ENSP00000428684:R278H	ENSP00000265807:R278H	R	+	2	0	SH2D4A	19265989	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.232000	0.17891	-0.139000	0.11414	-0.244000	0.11960	CGT	.		0.532	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		A	19221709	G	A	19221709	3	1	27	1	0	0	0	0	1	0	0	0	14280	1145	40	1	905	1	SH2D4A	8	19221709	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1610364	19221709	127142313	145	4705											
ENTPD4	9583	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	23302032	23302032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtctctttgtgttttGcccgtggcacatgctctgca	12	10	2	0	rs200123530		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:23302032G>A	ENST00000358689.4	-	5	735	c.500C>T	c.(499-501)gCa>gTa	p.A167V	ENTPD4_ENST00000417069.2_Missense_Mutation_p.A167V|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A167V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	167					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTTGTGTTTTGCCCGTGGCAC	0.488																																					p.A167V		.											.	ENTPD4-92	0			c.C500T						.						128	127	127					8																	23302032		2203	4300	6503	SO:0001583	missense	9583	exon5			TGTTTTGCCCGTG	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.500C>T	8.37:g.23302032G>A	ENSP00000351520:p.Ala167Val	Somatic	101	1		WXS	Illumina GAIIx	Phase_I	134	70	NM_004901	0	0	10	13	3	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.861461|2.861461	0.51482|0.51482	.|.	.|.	ENSG00000197217|ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069|ENST00000519839	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.475846|.	0.23964|.	N|.	0.042833|.	T|.	0.56645|.	0.1999|.	L|L	0.52905|0.52905	1.665|1.665	0.32261|0.32261	N|N	0.570166|0.570166	B;B;B;B|.	0.23990|.	0.04;0.095;0.032;0.04|.	B;B;B;B|.	0.33121|.	0.102;0.158;0.062;0.102|.	T|.	0.64334|.	-0.6432|.	10|.	0.36615|.	T|.	0.2|.	-6.6607|-6.6607	12.4239|12.4239	0.55536|0.55536	0.0:0.0:0.6945:0.3055|0.0:0.0:0.6945:0.3055	.|.	167;167;167;167|.	B4DU21;Q8NE73;Q9Y227-2;Q9Y227|.	.;.;.;ENTP4_HUMAN|.	V|X	167|42	ENSP00000348536:A167V;ENSP00000351520:A167V;ENSP00000408573:A167V|.	ENSP00000348536:A167V|.	A|Q	-|-	2|1	0|0	ENTPD4|ENTPD4	23357977|23357977	0.133000|0.133000	0.22466|0.22466	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.281000|1.281000	0.33214|0.33214	1.331000|1.331000	0.45412|0.45412	0.563000|0.563000	0.77884|0.77884	GCA|CAA	G|0.999;T|0.000		0.488	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		A	23302032	G	A	23302032	3	1	27	1	0	0	0	0	1	0	0	0	5157	1319	46	3	1386	3	ENTPD4	8	23302032	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4080323	23302032	123061990	146	4706											
UBE2V2	7336	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	48955657	48955657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacaaaaaggagtaggCgacggtacagttagctgggg	17	5	0	0	rs545217661		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:48955657C>T	ENST00000523111.2	+	2	136	c.81C>T	c.(79-81)ggC>ggT	p.G27G	UBE2V2_ENST00000521346.1_5'UTR|UBE2V2_ENST00000517630.1_5'UTR|UBE2V2_ENST00000520809.1_5'UTR	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	27					cell proliferation (GO:0008283)|DNA double-strand break processing (GO:0000729)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of DNA repair (GO:0045739)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of synapse assembly (GO:0051965)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of DNA repair (GO:0006282)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|UBC13-MMS2 complex (GO:0031372)	acid-amino acid ligase activity (GO:0016881)	p.G27G(1)		large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAGGAGTAGGCGACGGTACAG	0.408								Rad6 pathway					C|||	1	0.000199681	8e-04	0	5008	,	,		15610	0		0	False		,,,				2504	0				p.G27G		.											.	UBE2V2-659	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T						.						140	138	139					8																	48955657		1934	4130	6064	SO:0001819	synonymous_variant	7336	exon2			AGTAGGCGACGGT	X98091	CCDS43738.1	8q11.21	2008-02-05			ENSG00000169139	ENSG00000169139		"Ubiquitin-conjugating enzymes E2"	12495	protein-coding gene	gene with protein product		603001				9418904, 9199207	Standard	NM_003350		Approved	UEV-2, DDVit-1, EDPF-1, MMS2	uc003xqm.3	Q15819	OTTHUMG00000164206	ENST00000523111.2:c.81C>T	8.37:g.48955657C>T		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	191	13	NM_003350	0	0	37	38	1		Silent	SNP	ENST00000523111.2	37	CCDS43738.1	.	.	.	.	.	.	.	.	.	.	C	9.516	1.107102	0.20714	.	.	ENSG00000169139	ENST00000324746	.	.	.	5.76	-0.24	0.13047	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6929	5.0844	0.14675	0.2352:0.2558:0.0:0.509	.	.	.	.	X	23	.	.	R	+	1	2	UBE2V2	49118210	0.061000	0.20836	0.996000	0.52242	0.992000	0.81027	-0.848000	0.04326	-0.111000	0.12001	-0.140000	0.14226	CGA	.		0.408	UBE2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377808.3	NM_003350		T	48955657	C	T	48955657	2	4	27	1	0	0	0	0	0	0	0	1	16925	755	27	1		1	UBE2V2	8	48955657	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	25653625	48955657	97408365	147	4707											
YTHDF3	253943	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	64099263	64099263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccagttagcagtgcaGcacctaaaccaacctcctgg	8	16	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:64099263G>A	ENST00000539294.1	+	4	1007	c.691G>A	c.(691-693)Gca>Aca	p.A231T	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.A42T|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	232							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGCAGTGCAGCACCTAAACC	0.512																																					.		.											.	.	0			.						.						92	98	96					8																	64099263		2069	4210	6279	SO:0001583	missense	253943	.			AGTGCAGCACCTA	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.691G>A	8.37:g.64099263G>A	ENSP00000473496:p.Ala231Thr	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	240	126	.	0	0	5	16	11	B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37																																																																																				.		0.512	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		A	64099263	G	A	64099263	3	1	27	1	0	0	0	0	1	0	0	0	17549	962	34	3	707	3	YTHDF3	8	64099263	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	15143606	64099263	82264759	148	4708											
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	68939483	68939483	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgcttggaggacggaaGaacacagatgttcccttgga	13	8	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:68939483G>T	ENST00000288368.4	+	5	745	c.468G>T	c.(466-468)aaG>aaT	p.K156N	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	156	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.K156K(2)		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						GAGGACGGAAGAACACAGATG	0.353																																					p.K156N		.											.	PREX2-390	2	Substitution - coding silent(2)	skin(2)	c.G468T						.						140	133	135					8																	68939483		2203	4300	6503	SO:0001583	missense	80243	exon5			ACGGAAGAACACA	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.468G>T	8.37:g.68939483G>T	ENSP00000288368:p.Lys156Asn	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	205	96	NM_025170	0	0	0	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816090	0.70912	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.63096	-0.02	5.66	3.84	0.44239	Dbl homology (DH) domain (5);	0.050966	0.85682	N	0.000000	T	0.71771	0.3379	L	0.52126	1.63	0.58432	D	0.999998	D;D;P	0.89917	1.0;0.999;0.916	D;D;P	0.97110	1.0;0.99;0.756	T	0.71444	-0.4591	10	0.56958	D	0.05	.	10.8022	0.46495	0.0678:0.0:0.8006:0.1316	.	156;156;156	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	N	156	ENSP00000288368:K156N	ENSP00000288368:K156N	K	+	3	2	PREX2	69102037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.507000	0.53371	0.825000	0.34637	0.655000	0.94253	AAG	.		0.353	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		T	68939483	G	T	68939483	3	4	27	1	0	0	0	0	1	0	0	0	12519	933	33	3	486	3	PREX2	8	68939483	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4840220	68939483	77424539	149	4709											
OSR2	116039	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	99961683	99961683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggttgccctccaaaaCgaaaaaagagtttatctgca	9	8	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:99961683C>T	ENST00000297565.4	+	2	999	c.503C>T	c.(502-504)aCg>aTg	p.T168M	OSR2_ENST00000435298.2_Missense_Mutation_p.T168M|OSR2_ENST00000523368.1_Missense_Mutation_p.T168M|OSR2_ENST00000522510.1_Missense_Mutation_p.T168M|OSR2_ENST00000457907.2_Missense_Mutation_p.T289M	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	168					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|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)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCCTCCAAAACGAAAAAAGAG	0.527																																					p.T168M		.											.	OSR2-1	0			c.C503T						.						156	162	160					8																	99961683		1943	4157	6100	SO:0001583	missense	116039	exon2			CCAAAACGAAAAA	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.503C>T	8.37:g.99961683C>T	ENSP00000297565:p.Thr168Met	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	285	138	NM_053001	0	0	15	26	11	A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919411	0.73098	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75	4.35	4.35	0.52113	.	0.051443	0.85682	D	0.000000	T	0.26448	0.0646	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.994	D;P;D;D	0.66351	0.943;0.856;0.943;0.943	T	0.00509	-1.1698	9	.	.	.	-14.761	18.1763	0.89762	0.0:1.0:0.0:0.0	.	289;168;168;168	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	M	168;168;168;168;289;221;168	ENSP00000430041:T168M;ENSP00000297565:T168M;ENSP00000402862:T168M;ENSP00000430780:T168M;ENSP00000414657:T289M;ENSP00000430074:T221M;ENSP00000429910:T168M	.	T	+	2	0	OSR2	100030859	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.722000	0.93159	0.655000	0.94253	ACG	.		0.527	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		T	99961683	C	T	99961683	3	4	27	1	0	0	0	0	1	0	0	0	11333	536	19	1	505	1	OSR2	8	99961683	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	31022200	99961683	46402339	150	4710											
RIMS2	9699	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	105263855	105263855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctggggagattatggccGcatggatcacaaatctttta	11	8	3	1	rs200286153		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:105263855G>A	ENST00000436393.2	+	28	4152	c.3911G>A	c.(3910-3912)cGc>cAc	p.R1304H	RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1100H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1348	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATTATGGCCGCATGGATCAC	0.378										HNSCC(12;0.0054)																											p.R1286H		.											.	RIMS2-279	0			c.G3857A						.						129	128	128					8																	105263855		1895	4148	6043	SO:0001583	missense	9699	exon24			ATGGCCGCATGGA	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.3911G>A	8.37:g.105263855G>A	ENSP00000390665:p.Arg1304His	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	150	60	NM_001100117	1	0	5	9	3	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.134573	0.77662	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.64	5.64	0.86602	.	.	.	.	.	D	0.88020	0.6325	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.75020	0.984;0.978;0.978;0.985	D	0.90084	0.4172	9	0.87932	D	0	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1304;1125;1100;1286	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	H	1323;1286;1348;1125;1100;1304;222;222	ENSP00000384892:R1286H;ENSP00000262231:R1125H;ENSP00000423559:R1100H;ENSP00000390665:R1304H;ENSP00000428478:R222H;ENSP00000342051:R222H	ENSP00000262231:R1125H	R	+	2	0	RIMS2	105333031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	CGC	G|1.000;T|0.000		0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105263855	G	A	105263855	3	1	27	1	0	0	0	0	1	0	0	0	13413	1087	38	1	4147	1	RIMS2	8	105263855	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	5302172	105263855	41100167	151	4711											
UTP23	84294	bcgsc.ca	37	chr8	117778849	117778849	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccggtaagccaggcatgaagAtcacaaggcagaaacatgcc	11	11	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:117778849A>T	ENST00000309822.2	+	1	108	c.7A>T	c.(7-9)Atc>Ttc	p.I3F	EIF3H_ENST00000276682.4_5'Flank|UTP23_ENST00000517820.1_Missense_Mutation_p.I3F|UTP23_ENST00000357148.3_Missense_Mutation_p.I3F	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	3					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AGGCATGAAGATCACAAGGCA	0.577											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I3F		.											.	UTP23-226	0			c.A7T						.						49	48	49					8																	117778849		2203	4300	6503	SO:0001583	missense	84294	exon1			ATGAAGATCACAA		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.7A>T	8.37:g.117778849A>T	ENSP00000308332:p.Ile3Phe	Somatic	296	5	1483	WXS	Illumina GAIIx	Phase_I	376	173	NM_032334	0	0	5	10	5	B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612589	0.87258	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000517820	T	0.23754	1.89	5.54	5.54	0.83059	.	0.047226	0.85682	D	0.000000	T	0.41328	0.1154	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.56916	0.809	T	0.31081	-0.9956	10	0.72032	D	0.01	-21.4445	11.7143	0.51643	0.9298:0.0:0.0702:0.0	.	3	Q9BRU9	UTP23_HUMAN	F	3	ENSP00000308332:I3F	ENSP00000308332:I3F	I	+	1	0	UTP23	117848030	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.337000	0.52120	2.323000	0.78572	0.528000	0.53228	ATC	.		0.577	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		T	117778849	A	T	117778849	3	4	27	1	0	0	0	0	1	0	0	0	17149	333	12	5	9	5	UTP23	8	117778849	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	12514994	117778849	28585173	152	4712											
C8orf31	286122	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144126154	144126154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccatccaggaaggggcacGagaccacgctgcaggaggcc	14	15	0	1	rs74447754	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144126154G>A	ENST00000395172.1	+	4	627	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	92										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGGCACGAGACCACGCT	0.637													a|||	43	0.00858626	0.031	0.0029	5008	,	,		15192	0		0	False		,,,				2504	0				p.R92Q		.											.	C8orf31-91	0			c.G275A						.		GLN/ARG	101,4305	816.3+/-416.2	0,101,2102	80	71	74		275	-1.5	0	8	dbSNP_131	74	0,8600		0,0,4300	yes	missense	C8orf31	NM_173687.2	43	0,101,6402	AA,AG,GG		0.0,2.2923,0.7766	benign	92/133	144126154	101,12905	2203	4300	6503	SO:0001583	missense	286122	exon4			GGGCACGAGACCA		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.275G>A	8.37:g.144126154G>A	ENSP00000378601:p.Arg92Gln	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	152	74	NM_173687	0	0	12	27	15	Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	CCDS6395.1	27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	a	5.710	0.315597	0.10789	0.022923	0.0	ENSG00000177335	ENST00000395172	T	0.55930	0.49	1.77	-1.48	0.08745	.	.	.	.	.	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.06405	0.002	T	0.07673	-1.0760	9	0.87932	D	0	.	5.3594	0.16079	0.4961:0.0:0.5039:0.0	.	92	Q8N9H6	CH031_HUMAN	Q	92	ENSP00000378601:R92Q	ENSP00000378601:R92Q	R	+	2	0	C8orf31	144197529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.921000	0.01569	-0.435000	0.07264	-0.309000	0.09137	CGA	G|0.990;A|0.010		0.637	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		A	144126154	G	A	144126154	3	1	27	1	0	0	0	0	1	0	0	0	2427	1058	37	1	285	1	C8orf31	8	144126154	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	26347305	144126154	2237868	153	4713											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_030895	0	0	0	9	9	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	27	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	252714	144378868	1985154	154	4714											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	144940488	144940488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgcccggtgtaggggtCggtgtagccggtgacggcgc	19	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144940488C>T	ENST00000525985.1	-	2	7005	c.6934G>A	c.(6934-6936)Gac>Aac	p.D2312N				P58107	EPIPL_HUMAN	epiplakin 1	2312						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)			GTGTAGGGGTCGGTGTAGCCG	0.701																																					p.D2312N		.											.	EPPK1-25	0			c.G6934A						.						172	170	171					8																	144940488		2180	4264	6444	SO:0001583	missense	83481	exon1			AGGGGTCGGTGTA	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.6934G>A	8.37:g.144940488C>T	ENSP00000436337:p.Asp2312Asn	Somatic	229	0		WXS	Illumina GAIIx	Phase_I	452	36	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.582034	0.86748	.	.	ENSG00000227184	ENST00000525985	T	0.74209	-0.82	4.63	4.63	0.57726	.	.	.	.	.	D	0.85995	0.5827	M	0.80183	2.485	0.48830	D	0.999713	D	0.89917	1.0	D	0.83275	0.996	D	0.86955	0.2088	9	0.51188	T	0.08	.	15.1031	0.72299	0.0:1.0:0.0:0.0	.	2312	E9PPU0	.	N	2312	ENSP00000436337:D2312N	ENSP00000436337:D2312N	D	-	1	0	EPPK1	145012476	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	3.179000	0.50887	2.416000	0.81992	0.586000	0.80456	GAC	.		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940488	C	T	144940488	3	4	27	1	0	0	0	0	1	0	0	0	5206	884	31	1	332	1	EPPK1	8	144940488	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	561620	144940488	1423534	155	4715											
EPPK1	83481	hgsc.bcm.edu	37	chr8	144940621	144940621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgacgaagccggtggcCgcctgcgcctccagcagcac	13	16	0	1	rs201634698		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144940621C>T	ENST00000525985.1	-	2	6872	c.6801G>A	c.(6799-6801)gcG>gcA	p.A2267A				P58107	EPIPL_HUMAN	epiplakin 1	2267						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)			AGCCGGTGGCCGCCTGCGCCT	0.716																																					p.A2267A		.											.	EPPK1-25	0			c.G6801A						.	C		2,4298		0,2,2148	35	35	35		6801	-0.9	1	8		35	39,8441		0,39,4201	no	coding-synonymous	EPPK1	NM_031308.1		0,41,6349	TT,TC,CC		0.4599,0.0465,0.3208		2267/2420	144940621	41,12739	2150	4240	6390	SO:0001819	synonymous_variant	83481	exon1			GGTGGCCGCCTGC	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.6801G>A	8.37:g.144940621C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	40	12	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				C|0.998;T|0.002		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940621	C	T	144940621	2	4	27	1	0	0	0	0	0	0	0	1	5206	639	23	1		1	EPPK1	8	144940621	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	133	144940621	1423401	156	4716											
EPPK1	83481	broad.mit.edu	37	chr8	144942188	144942188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggggtcctccacacagCgctccagaagctgcaggtac	11	15	1	1	rs187594766	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144942188C>T	ENST00000525985.1	-	2	5305	c.5234G>A	c.(5233-5235)cGc>cAc	p.R1745H				P58107	EPIPL_HUMAN	epiplakin 1	1745						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)			CTCCACACAGCGCTCCAGAAG	0.562													C|||	2	0.000399361	0	0	5008	,	,		17648	0.001		0	False		,,,				2504	0.001				p.R1745H		.											.	EPPK1-25	0			c.G5234A						.						105	108	107					8																	144942188		2029	4173	6202	SO:0001583	missense	83481	exon1			ACACAGCGCTCCA	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.5234G>A	8.37:g.144942188C>T	ENSP00000436337:p.Arg1745His	Somatic	212	1		WXS	Illumina GAIIx	Phase_I	310	9	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	29.9	5.041346	0.93685	.	.	ENSG00000227184	ENST00000525985	T	0.71817	-0.6	5.1	5.1	0.69264	.	.	.	.	.	D	0.84822	0.5557	M	0.84082	2.675	0.40112	D	0.976498	D	0.89917	1.0	D	0.83275	0.996	D	0.86220	0.1630	9	0.51188	T	0.08	.	16.0335	0.80603	0.0:1.0:0.0:0.0	.	1745	E9PPU0	.	H	1745	ENSP00000436337:R1745H	ENSP00000436337:R1745H	R	-	2	0	EPPK1	145014176	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.520000	0.81821	2.648000	0.89879	0.585000	0.79938	CGC	C|0.999;T|0.001		0.562	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144942188	C	T	144942188	3	4	27	1	0	0	0	0	1	0	0	0	5206	768	27	1	2032	1	EPPK1	8	144942188	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1567	144942188	1421834	157	4717											
PLEC	5339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144994967	144994967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacctcggctacgtctcGcacagagcgctcacctcgct	9	18	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144994967G>A	ENST00000322810.4	-	32	9602	c.9433C>T	c.(9433-9435)Cga>Tga	p.R3145*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3035*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3031*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2986*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3008*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3008*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3012*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2976*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2994*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3145	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTACGTCTCGCACAGAGCGC	0.672																																					p.R3145X		.											.	PLEC-141	0			c.C9433T						.						23	28	26					8																	144994967		2059	4161	6220	SO:0001587	stop_gained	5339	exon32			CGTCTCGCACAGA	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.9433C>T	8.37:g.144994967G>A	ENSP00000323856:p.Arg3145*	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	164	82	NM_201380	0	0	20	41	21	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.932324	0.99849	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.46	4.46	0.54185	.	0.205916	0.30809	U	0.008830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.168	0.31239	0.0:0.1703:0.6544:0.1754	.	.	.	.	X	3008;3012;3008;2976;3145;2986;2994;3035;3031	.	ENSP00000323856:R3145X	R	-	1	2	PLEC	145066955	0.237000	0.23815	0.776000	0.31678	0.221000	0.24807	2.795000	0.47861	2.196000	0.70406	0.448000	0.29417	CGA	.		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144994967	G	A	144994967	4	1	27	1	0	0	0	0	0	1	0	0	12091	1095	38	1	4625	1	PLEC	8	144994967	Nonsense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	52779	144994967	1369055	158	4718											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000356346.3_Silent_p.A1962A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_201380	0	0	0	7	7	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	27	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3202	144998169	1365853	159	4719											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000356346.3_Silent_p.L1170L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_201380	1	0	0	23	22	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	27	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	3615	145001784	1362238	160	4720											
RECQL4	113655	bcgsc.ca	37	chr8	145738769	145738769	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtggccaccaccacccgGcaactggccctgcatgaagg	11	17	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:145738769G>A	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Splice_Site	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACCACCCGGCAACTGGCCC	0.682																																					p.R766W		.											.	RECQL4-1083	0			c.C2296T						.						15	20	19					8																	145738769		2079	4204	6283	SO:0001628	intergenic_variant	9401	exon14			CACCCGGCAACTG		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738769G>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	218	101	NM_004260	0	0	0	0	0		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																			.		0.682	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145738769	G	A	145738769	1	1	27	0	1	0	0	0	0	0	0	0	13247	1203	42	3		3	RECQL4	8	145738769	IGR	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	736985	145738769	625253	161	4721											
LRRC14	9684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145745151	145745151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacacggcaggtgctgcaGtgccagccagctgcctgcca	13	15	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:145745151G>A	ENST00000292524.1	+	2	188	c.42G>A	c.(40-42)caG>caA	p.Q14Q	RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Silent_p.Q14Q|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	14										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTGCTGCAGTGCCAGCCAG	0.632																																					p.Q14Q		.											.	LRRC14-90	0			c.G42A						.						33	32	32					8																	145745151		2201	4300	6501	SO:0001819	synonymous_variant	9684	exon3			GCTGCAGTGCCAG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.42G>A	8.37:g.145745151G>A		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	198	105	NM_001272036	0	0	7	14	7	A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			.		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		A	145745151	G	A	145745151	2	1	27	1	0	0	0	0	0	0	0	1	9003	1020	36	3		3	LRRC14	8	145745151	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6382	145745151	618871	162	4722											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_213605	0	0	0	6	6		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	27	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	288196	146033347	330675	163	4723											
WASH1	0	hgsc.bcm.edu	37	chr9	14858	14858	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtggctgctgcggtggCggcaaaggagggatggagtc	20	8	0	0	rs563083426		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:14858C>G								None (None upstream) : MIR1302-2 (12798 downstream)																							GCTGCGGTGGCGGCAAAGGAG	0.647																																					p.P449P		.											.	.	0			c.G1347C						.						9	15	13					9																	14858		1489	3719	5208	SO:0001628	intergenic_variant	100287171	exon11			CGGTGGCGGCAAA																													9.37:g.14858C>G		Somatic	250	0		WXS	Illumina GAIIx	Phase_I	366	63	NM_182905	0	0	15	15	0		Silent	SNP		37																																																																																				.	0	0.647									G	14858	C	G	14858	1	3	27	0	1	0	0	0	0	0	0	0	17304	755	27	2		2	WASH1	9	14858	IGR	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		14858	141198573	164	4724											
SMARCA2	6595	broad.mit.edu	37	chr9	2088608	2088608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttgaatcccagcttcccGaaaaagtatgttgcacaacc	7	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:2088608G>A	ENST00000382203.1	+	19	3087	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K	SMARCA2_ENST00000382194.1_Missense_Mutation_p.E960K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E960K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E960K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	960					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAGCTTCCCGAAAAAGTATG	0.363																																					p.E960K		.											.	SMARCA2-653	0			c.G2878A						.						85	98	94					9																	2088608		2203	4300	6503	SO:0001583	missense	6595	exon19			CTTCCCGAAAAAG	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.2878G>A	9.37:g.2088608G>A	ENSP00000371638:p.Glu960Lys	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	104	5	NM_139045	0	0	0	0	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230428	0.95207	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.43	5.43	0.79202	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	N	0.17474	0.49	0.80722	D	1	D;D;D	0.76494	0.974;0.999;0.999	P;D;D	0.79784	0.862;0.988;0.993	T	0.82084	-0.0632	10	0.72032	D	0.01	-22.7481	19.2492	0.93917	0.0:0.0:1.0:0.0	.	561;960;960	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	K	960	ENSP00000265773:E960K;ENSP00000349788:E960K;ENSP00000371638:E960K;ENSP00000371629:E960K	ENSP00000265773:E960K	E	+	1	0	SMARCA2	2078608	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.748000	0.98867	2.563000	0.86464	0.655000	0.94253	GAA	.		0.363	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2088608	G	A	2088608	3	1	27	1	0	0	0	0	1	0	0	0	14814	1059	37	1	2948	1	SMARCA2	9	2088608	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2073750	2088608	139124823	165	4725											
TESK1	7016	bcgsc.ca	37	chr9	35609536	35609536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacccccttcagctcccCgggagcccgatgaggggctg	13	18	1	1	rs567466527		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:35609536C>T	ENST00000336395.5	+	10	1928	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|CD72_ENST00000396757.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	560					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCAGCTCCCCGGGAGCCCGA	0.716																																					p.R560W		.											.	TESK1-641	0			c.C1678T						.						33	41	38					9																	35609536		2195	4295	6490	SO:0001583	missense	7016	exon10			GCTCCCCGGGAGC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1678C>T	9.37:g.35609536C>T	ENSP00000338127:p.Arg560Trp	Somatic	28	1		WXS	Illumina GAIIx	Phase_I	44	40	NM_006285	0	0	1	22	21	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175086	0.57692	.	.	ENSG00000107140	ENST00000535770;ENST00000336395	T	0.75821	-0.97	5.06	3.08	0.35506	.	0.000000	0.39407	N	0.001379	T	0.62134	0.2403	N	0.19112	0.55	0.80722	D	1	D;D	0.63880	0.993;0.989	P;B	0.50352	0.638;0.332	T	0.63193	-0.6692	10	0.72032	D	0.01	-10.7723	3.5751	0.07932	0.2929:0.4781:0.1456:0.0834	.	478;560	B4DQQ3;Q15569	.;TESK1_HUMAN	W	91;560	ENSP00000338127:R560W	ENSP00000338127:R560W	R	+	1	2	TESK1	35599536	0.494000	0.26043	1.000000	0.80357	0.976000	0.68499	0.824000	0.27379	1.073000	0.40885	0.563000	0.77884	CGG	.		0.716	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		T	35609536	C	T	35609536	3	4	27	1	0	0	0	0	1	0	0	0	15814	643	23	1	1716	1	TESK1	9	35609536	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	33520928	35609536	105603895	166	4726											
FBXO10	26267	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	37516027	37516027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaccagggccttggcaCggccccgcacggcgatgccg	14	18	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:37516027C>T	ENST00000432825.2	-	10	2618	c.2570G>A	c.(2569-2571)cGt>cAt	p.R857H	FBXO10_ENST00000541829.1_Missense_Mutation_p.R382H|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	857					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)		GGCCTTGGCACGGCCCCGCAC	0.537																																					p.R857H		.											.	FBXO10-637	0			c.G2570A						.						183	156	165					9																	37516027		1917	4126	6043	SO:0001583	missense	26267	exon10			TTGGCACGGCCCC	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.2570G>A	9.37:g.37516027C>T	ENSP00000403802:p.Arg857His	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	122	109	NM_012166	0	0	1	5	4	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954316	0.34471	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80304	-1.36;-1.36	5.43	2.2	0.27929	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.382752	0.29159	N	0.012977	T	0.50292	0.1607	N	0.03608	-0.345	0.25439	N	0.98812	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.29274	-1.0017	10	0.12103	T	0.63	-11.7144	2.6817	0.05095	0.2072:0.3887:0.0:0.4041	.	736;382;857	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	H	857;382	ENSP00000403802:R857H;ENSP00000441307:R382H	ENSP00000403802:R857H	R	-	2	0	FBXO10	37506027	0.637000	0.27216	0.758000	0.31321	0.747000	0.42532	0.951000	0.29135	0.678000	0.31325	0.511000	0.50034	CGT	.		0.537	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			T	37516027	C	T	37516027	3	4	27	1	0	0	0	0	1	0	0	0	5748	536	19	1	308	1	FBXO10	9	37516027	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1906491	37516027	103697404	167	4727											
ANXA1	301	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	75774284	75774284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgacattctaactaagcGaaacaatgcacagcgtcaac	6	11	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:75774284G>A	ENST00000376911.1	+	3	1097	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	ANXA1_ENST00000257497.6_Missense_Mutation_p.R72Q			P04083	ANXA1_HUMAN	annexin A1	72					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CTAACTAAGCGAAACAATGCA	0.363																																					p.R72Q		.											.	ANXA1-650	0			c.G215A						.						167	154	158					9																	75774284		2203	4300	6503	SO:0001583	missense	301	exon4			CTAAGCGAAACAA	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.215G>A	9.37:g.75774284G>A	ENSP00000366109:p.Arg72Gln	Somatic	194	2		WXS	Illumina GAIIx	Phase_I	81	75	NM_000700	0	0	6	124	118		Missense_Mutation	SNP	ENST00000376911.1	37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746851	0.96882	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.63	5.63	0.86233	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	H	0.97540	4.025	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.71695	-0.4515	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	72	P04083	ANXA1_HUMAN	Q	72;83;72;72	ENSP00000257497:R72Q;ENSP00000412489:R83Q;ENSP00000414013:R72Q;ENSP00000366109:R72Q	ENSP00000257497:R72Q	R	+	2	0	ANXA1	74964104	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	8.834000	0.92094	2.805000	0.96524	0.655000	0.94253	CGA	.		0.363	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		A	75774284	G	A	75774284	3	1	27	1	0	0	0	0	1	0	0	0	714	1058	37	1	225	1	ANXA1	9	75774284	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	38258257	75774284	65439147	168	4728											
C9orf79	286234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	90503505	90503505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcactgccaccaagaacGtagcagagagatgagagctc	13	10	1	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:90503505G>A	ENST00000325643.5	+	4	4169	c.4103G>A	c.(4102-4104)cGt>cAt	p.R1368H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1368					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACCAAGAACGTAGCAGAGAG	0.592																																					p.R1368H		.											.	.	0			c.G4103A						.						81	70	74					9																	90503505		2203	4300	6503	SO:0001583	missense	286234	exon4			AAGAACGTAGCAG	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.4103G>A	9.37:g.90503505G>A	ENSP00000322640:p.Arg1368His	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	113	100	NM_178828	0	0	0	0	0	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.344|6.344	0.431505|0.431505	0.12045|0.12045	.|.	.|.	ENSG00000177992|ENSG00000177992	ENST00000325643|ENST00000539327	T|.	0.02974|.	4.09|.	2.47|2.47	1.31|1.31	0.21738|0.21738	.|.	1.651390|.	0.03689|.	N|.	0.246736|.	T|T	0.08313|0.08313	0.0207|0.0207	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.35822|0.35822	-0.9773|-0.9773	10|6	0.06757|0.11794	T|T	0.87|0.64	.|.	4.2597|4.2597	0.10735|0.10735	0.8292:0.0:0.1708:0.0|0.8292:0.0:0.1708:0.0	.|.	1368|.	Q6ZUB1|.	CI079_HUMAN|.	H|I	1368|583	ENSP00000322640:R1368H|.	ENSP00000322640:R1368H|ENSP00000443171:V583I	R|V	+|+	2|1	0|0	C9orf79|C9orf79	89693325|89693325	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.296000|-0.296000	0.08287|0.08287	0.385000|0.385000	0.24970|0.24970	-0.238000|-0.238000	0.12139|0.12139	CGT|GTA	.		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90503505	G	A	90503505	3	1	27	1	0	0	0	0	1	0	0	0	2504	1145	40	1	4117	1	C9orf79	9	90503505	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14729221	90503505	50709926	169	4729											
GABBR2	9568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	101258725	101258725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacactggtacagggatcGttggagaagctctcggtgtc	14	8	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:101258725G>A	ENST00000259455.2	-	4	1161	c.702C>T	c.(700-702)aaC>aaT	p.N234N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	234					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.N234N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TACAGGGATCGTTGGAGAAGC	0.522																																					p.N234N		.											.	GABBR2-518	1	Substitution - coding silent(1)	endometrium(1)	c.C702T						.						168	146	154					9																	101258725		2203	4300	6503	SO:0001819	synonymous_variant	9568	exon4			GGGATCGTTGGAG	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.702C>T	9.37:g.101258725G>A		Somatic	154	1		WXS	Illumina GAIIx	Phase_I	105	98	NM_005458	0	0	0	0	0	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																			.		0.522	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			A	101258725	G	A	101258725	2	1	27	1	0	0	0	0	0	0	0	1	6180	1136	40	1		1	GABBR2	9	101258725	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	10755220	101258725	39954706	170	4730											
SEC16A	9919	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	139354235	139354235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgcccatggtagccatcGtcctggactcgacgtccatg	11	14	0	0	rs367852678		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:139354235G>A	ENST00000371706.3	-	13	4664	c.4631C>T	c.(4630-4632)aCg>aTg	p.T1544M	SEC16A_ENST00000313050.7_Missense_Mutation_p.T1722M|SEC16A_ENST00000431893.2_Missense_Mutation_p.T1544M|SEC16A_ENST00000290037.6_Missense_Mutation_p.T1544M			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1544					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)		GGTAGCCATCGTCCTGGACTC	0.592																																					p.T1722M		.											.	.	0			c.C5165T						.	G	MET/THR	1,4137		0,1,2068	54	56	56		5165	5.6	0.9	9		56	0,8434		0,0,4217	no	missense	SEC16A	NM_014866.1	81	0,1,6285	AA,AG,GG		0.0,0.0242,0.0080	probably-damaging	1722/2358	139354235	1,12571	2069	4217	6286	SO:0001583	missense	9919	exon15			GCCATCGTCCTGG	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.4631C>T	9.37:g.139354235G>A	ENSP00000360771:p.Thr1544Met	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	47	41	NM_014866	0	0	0	8	8	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.445793	0.84101	2.42E-4	0.0	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.50277	1.71;0.75;1.32;1.71;1.71;1.71	5.55	5.55	0.83447	.	0.146393	0.64402	D	0.000008	T	0.64962	0.2646	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.978;0.97;0.98	T	0.66476	-0.5914	10	0.87932	D	0	-10.2204	18.4844	0.90823	0.0:0.0:1.0:0.0	.	1722;1544;1544;1112	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	M	1722;116;444;1544;1544;1544;1112	ENSP00000325827:T1722M;ENSP00000277537:T116M;ENSP00000403525:T444M;ENSP00000360771:T1544M;ENSP00000290037:T1544M;ENSP00000387583:T1544M	ENSP00000277537:T116M	T	-	2	0	SEC16A	138474056	1.000000	0.71417	0.892000	0.35008	0.611000	0.37282	9.716000	0.98752	2.611000	0.88343	0.561000	0.74099	ACG	.		0.592	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139354235	G	A	139354235	3	1	27	1	0	0	0	0	1	0	0	0	14031	1145	40	1	1980	1	SEC16A	9	139354235	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	38095510	139354235	1859196	171	4731											
C9orf172	389813	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	139739046	139739046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcctggaggcgctggaCgggccggccatggagaccct	16	13	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr9:139739046C>T	ENST00000436881.1	+	1	180	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	60										endometrium(2)|large_intestine(1)|lung(6)	9						AGGCGCTGGACGGGCCGGCCA	0.746																																					p.D60D		.											.	.	0			c.C180T						.						5	6	6					9																	139739046		1829	4022	5851	SO:0001819	synonymous_variant	389813	exon1			GCTGGACGGGCCG		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.180C>T	9.37:g.139739046C>T		Somatic	17	0		WXS	Illumina GAIIx	Phase_I	34	30	NM_001080482	0	0	0	3	3		Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																			.		0.746	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		T	139739046	C	T	139739046	2	4	27	1	0	0	0	0	0	0	0	1	2478	535	19	1		1	C9orf172	9	139739046	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	384811	139739046	1474385	172	4732											
ITIH5	80760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7608357	7608357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccccaattaactctccGttcactgtgacacctcaaag	7	14	3	1	rs561325808		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:7608357G>A	ENST00000256861.6	-	13	2241	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	ITIH5_ENST00000298441.6_Silent_p.N507N|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Silent_p.N503N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	721					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTAACTCTCCGTTCACTGTGA	0.507													G|||	1	0.000199681	0	0	5008	,	,		17193	0.001		0	False		,,,				2504	0				p.N721N		.											.	ITIH5-92	0			c.C2163T						.						59	60	60					10																	7608357		2203	4300	6503	SO:0001819	synonymous_variant	80760	exon13			CTCTCCGTTCACT			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.2163C>T	10.37:g.7608357G>A		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	82	71	NM_030569	0	0	0	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																				.		0.507	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		A	7608357	G	A	7608357	2	1	27	1	0	0	0	0	0	0	0	1	7934	1136	40	1		1	ITIH5	10	7608357	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		7608357	127926390	173	4733											
DHTKD1	55526	ucsc.edu;bcgsc.ca	37	chr10	12142210	12142210	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgatggacggaatcaagCtagactgggccaccgcggaa	14	9	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:12142210C>G	ENST00000263035.4	+	9	1767	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	569					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGGAATCAAGCTAGACTGGGC	0.388																																					p.L569V		.											.	DHTKD1-515	0			c.C1705G						.						141	156	151					10																	12142210		2203	4300	6503	SO:0001583	missense	55526	exon9			ATCAAGCTAGACT	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.1705C>G	10.37:g.12142210C>G	ENSP00000263035:p.Leu569Val	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	38	4	NM_018706	0	0	17	17	0	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.069|5.069	0.198334|0.198334	0.09652|0.09652	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|D	.|0.91464	.|-2.85	5.39|5.39	-0.147|-0.147	0.13428|0.13428	.|Transketolase-like, pyrimidine-binding domain (2);	.|0.070600	.|0.64402	.|N	.|0.000020	T|T	0.79227|0.79227	0.4410|0.4410	N|N	0.13235|0.13235	0.315|0.315	0.48830|0.48830	D|D	0.999719|0.999719	.|B	.|0.12013	.|0.005	.|B	.|0.20955	.|0.032	T|T	0.63139|0.63139	-0.6704|-0.6704	5|10	.|0.44086	.|T	.|0.13	-5.88|-5.88	7.3469|7.3469	0.26668|0.26668	0.0:0.4784:0.1351:0.3865|0.0:0.4784:0.1351:0.3865	.|.	.|569	.|Q96HY7	.|DHTK1_HUMAN	G|V	120|569	.|ENSP00000263035:L569V	.|ENSP00000263035:L569V	A|L	+|+	2|1	0|2	DHTKD1|DHTKD1	12182216|12182216	0.997000|0.997000	0.39634|0.39634	0.751000|0.751000	0.31187|0.31187	0.302000|0.302000	0.27658|0.27658	0.370000|0.370000	0.20433|0.20433	-0.270000|-0.270000	0.09285|0.09285	0.484000|0.484000	0.47621|0.47621	GCT|CTA	.		0.388	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		G	12142210	C	G	12142210	3	3	27	1	0	0	0	0	1	0	0	0	4514	796	28	3	1739	3	DHTKD1	10	12142210	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4533853	12142210	123392537	174	4734											
MLLT10	8028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	21971185	21971185	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgaatgcaatacacaaCggtaagttttattagaatct	7	6	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:21971185C>T	ENST00000307729.7	+	13	1876	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	MLLT10_ENST00000446906.2_Splice_Site_p.N566N|MLLT10_ENST00000377072.3_Splice_Site_p.N566N|MLLT10_ENST00000377059.3_Splice_Site_p.N566N			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	566	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAATACACAACGGTAAGTTTT	0.348			T	"MLL, PICALM, CDK6"	AL																																p.N566N		.		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	.	MLLT10-658	0			c.C1698T						.						151	134	140					10																	21971185		2203	4298	6501	SO:0001630	splice_region_variant	8028	exon12			ACACAACGGTAAG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1699+1C>T	10.37:g.21971185C>T		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	38	33	NM_001195626	0	0	0	0	0	B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	CCDS55708.1																																																																																			.		0.348	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		Silent	T	21971185	C	T	21971185	5	4	27	1	0	0	0	0	0	0	1	0	9664	550	19	1	1744	1	MLLT10	10	21971185	Splice_Site	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9828975	21971185	113563562	175	4735											
KIAA1217	56243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	24832505	24832505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaatgaggatccagtcGtgtgcctggacaagaaacca	11	10	0	3	rs372909784		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:24832505G>A	ENST00000376454.3	+	19	4336	c.4306G>A	c.(4306-4308)Gtg>Atg	p.V1436M	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V1119M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1436					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATCCAGTCGTGTGCCTGGA	0.453																																					p.V1436M		.											.	KIAA1217-98	0			c.G4306A						.	G	,,MET/VAL	0,4406		0,0,2203	76	69	71		,,4306	3.6	1	10		71	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,probably-damaging	,,1436/1944	24832505	2,13004	2203	4300	6503	SO:0001583	missense	56243	exon19			CCAGTCGTGTGCC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4306G>A	10.37:g.24832505G>A	ENSP00000365637:p.Val1436Met	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	135	125	NM_019590	0	0	1	10	9	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666198	0.47677	0.0	2.33E-4	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.35421	1.74;1.31	5.53	3.64	0.41730	.	0.194583	0.34178	N	0.004184	T	0.54431	0.1858	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.958	D;D;B	0.91635	0.999;0.999;0.351	T	0.54576	-0.8273	10	0.72032	D	0.01	.	10.9453	0.47297	0.0704:0.1306:0.7989:0.0	.	1119;1119;1436	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	M	1119;1436;1119;1119	ENSP00000365637:V1436M;ENSP00000365634:V1119M	ENSP00000365634:V1119M	V	+	1	0	KIAA1217	24872511	0.999000	0.42202	0.983000	0.44433	0.088000	0.18126	3.171000	0.50824	0.672000	0.31204	0.561000	0.74099	GTG	.		0.453	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24832505	G	A	24832505	3	1	27	1	0	0	0	0	1	0	0	0	8243	1145	40	1	4380	1	KIAA1217	10	24832505	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2861320	24832505	110702242	176	4736											
KIAA1462	57608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	30315257	30315257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcattcctgaagctcaGgactctcatccgtgacactg	10	13	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:30315257G>A	ENST00000375377.1	-	3	3921	c.3820C>T	c.(3820-3822)Ctg>Ttg	p.L1274L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1274					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						CTGAAGCTCAGGACTCTCATC	0.597																																					p.L1274L		.											.	KIAA1462-72	0			c.C3820T						.						51	49	50					10																	30315257		1957	4142	6099	SO:0001819	synonymous_variant	57608	exon3			AGCTCAGGACTCT	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.3820C>T	10.37:g.30315257G>A		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	43	40	NM_020848	0	0	1	2	1	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																			.		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30315257	G	A	30315257	2	1	27	1	0	0	0	0	0	0	0	1	8261	991	35	3		3	KIAA1462	10	30315257	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	5482752	30315257	105219490	177	4737											
PARD3	56288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	34400183	34400183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggggcacatcttgccGgaagggccccttgggagggg	21	9	1	0	rs565005004		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:34400183G>A	ENST00000374789.3	-	25	4310	c.3985C>T	c.(3985-3987)Cgg>Tgg	p.R1329W	PARD3_ENST00000545693.1_Missense_Mutation_p.R1313W|PARD3_ENST00000374788.3_Missense_Mutation_p.R1326W|PARD3_ENST00000545260.1_Missense_Mutation_p.R1239W|PARD3_ENST00000374790.3_Missense_Mutation_p.R1269W|PARD3_ENST00000346874.4_Missense_Mutation_p.R1292W|PARD3_ENST00000374794.3_Missense_Mutation_p.R1217W|PARD3_ENST00000350537.4_Missense_Mutation_p.R1283W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1329					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)				ACATCTTGCCGGAAGGGCCCC	0.577													G|||	1	0.000199681	0	0	5008	,	,		17821	0		0	False		,,,				2504	0.001				p.R1329W		.											.	PARD3-92	0			c.C3985T						.						47	50	49					10																	34400183		2203	4300	6503	SO:0001583	missense	56288	exon25			CTTGCCGGAAGGG	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.3985C>T	10.37:g.34400183G>A	ENSP00000363921:p.Arg1329Trp	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	64	58	NM_019619	0	0	0	8	8	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569609	0.65765	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.35973	1.8;1.63;1.89;1.89;1.41;1.28;1.63;1.82	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	L	0.32530	0.975	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.997	T	0.51741	-0.8667	10	0.87932	D	0	.	14.6594	0.68858	0.0:0.0:0.4628:0.5372	.	1217;1239;1246;1283;1313;1292;1326;1329	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	W	1313;1239;1329;1326;1292;1217;1283;1269	ENSP00000443147:R1313W;ENSP00000440857:R1239W;ENSP00000363921:R1329W;ENSP00000363920:R1326W;ENSP00000340591:R1292W;ENSP00000363926:R1217W;ENSP00000311986:R1283W;ENSP00000363922:R1269W	ENSP00000340591:R1292W	R	-	1	2	PARD3	34440189	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.616000	0.36933	0.936000	0.37367	-0.122000	0.15005	CGG	.		0.577	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		A	34400183	G	A	34400183	3	1	27	1	0	0	0	0	1	0	0	0	11482	1115	39	1	89	1	PARD3	10	34400183	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4084926	34400183	101134564	178	4738											
FZD8	8325	broad.mit.edu	37	chr10	35929442	35929442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccgctccgggtacttgaAgcgctccatgtcgataagga	14	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:35929442A>G	ENST00000374694.1	-	1	920	c.916T>C	c.(916-918)Ttc>Ctc	p.F306L	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	306					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						GGGTACTTGAAGCGCTCCATG	0.632																																					p.F306L		.											.	FZD8-612	0			c.T916C						.						36	38	38					10																	35929442		2203	4300	6503	SO:0001583	missense	8325	exon1			ACTTGAAGCGCTC	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.916T>C	10.37:g.35929442A>G	ENSP00000363826:p.Phe306Leu	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	130	5	NM_031866	0	0	1	1	0		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931612	0.52866	.	.	ENSG00000177283	ENST00000374694	D	0.84589	-1.87	3.08	1.91	0.25777	GPCR, family 2-like (1);	0.149852	0.43747	U	0.000521	D	0.92202	0.7527	M	0.92738	3.34	0.50313	D	0.99986	D	0.76494	0.999	D	0.73380	0.98	D	0.90381	0.4388	10	0.87932	D	0	.	7.1818	0.25776	0.881:0.0:0.119:0.0	.	306	Q9H461	FZD8_HUMAN	L	306	ENSP00000363826:F306L	ENSP00000363826:F306L	F	-	1	0	FZD8	35969448	1.000000	0.71417	0.994000	0.49952	0.442000	0.32017	5.899000	0.69846	0.379000	0.24794	0.240000	0.17902	TTC	.		0.632	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		G	35929442	A	G	35929442	3	3	27	1	0	0	0	0	1	0	0	0	6160	72	3	4	1172	4	FZD8	10	35929442	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1529259	35929442	99605305	179	4739											
BMS1	9790	broad.mit.edu	37	chr10	43291975	43291975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaacactggtcgaatgcGtcggaaagccattttcggag	12	9	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:43291975G>A	ENST00000374518.5	+	10	1346	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	428					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCGAATGCGTCGGAAAGCC	0.383																																					p.R428H		.											.	BMS1-93	0			c.G1283A						.						131	122	125					10																	43291975		2203	4300	6503	SO:0001583	missense	9790	exon10			GAATGCGTCGGAA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1283G>A	10.37:g.43291975G>A	ENSP00000363642:p.Arg428His	Somatic	600	2		WXS	Illumina GAIIx	Phase_I	430	11	NM_014753	0	0	8	8	0	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.943926	0.53079	.	.	ENSG00000165733	ENST00000374518	T	0.10382	2.88	4.71	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	L	0.46885	1.475	0.39031	D	0.959943	D	0.89917	1.0	D	0.80764	0.994	T	0.01819	-1.1267	10	0.35671	T	0.21	.	13.3943	0.60840	0.0778:0.0:0.9222:0.0	.	428	Q14692	BMS1_HUMAN	H	428	ENSP00000363642:R428H	ENSP00000363642:R428H	R	+	2	0	BMS1	42611981	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	5.773000	0.68898	1.106000	0.41623	-0.233000	0.12211	CGT	.		0.383	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		A	43291975	G	A	43291975	3	1	27	1	0	0	0	0	1	0	0	0	1474	1145	40	1	1317	1	BMS1	10	43291975	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	7362533	43291975	92242772	180	4740											
GDF10	2662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	48428896	48428896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggccggggtttcagCgcccggaaggggctgggcca	18	14	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:48428896C>T	ENST00000224605.2	-	2	1255	c.990G>A	c.(988-990)gcG>gcA	p.A330A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	330					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGGTTTCAGCGCCCGGAAGG	0.672																																					p.A330A		.											.	GDF10-650	0			c.G990A						.						31	31	31					10																	48428896		2203	4300	6503	SO:0001819	synonymous_variant	2662	exon2			TTTCAGCGCCCGG	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.990G>A	10.37:g.48428896C>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	67	64	NM_004962	0	0	0	1	1	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																			.		0.672	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		T	48428896	C	T	48428896	2	4	27	1	0	0	0	0	0	0	0	1	6337	755	27	1		1	GDF10	10	48428896	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5136921	48428896	87105851	181	4741											
JMJD1C	221037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	64975209	64975209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcttgggcacgtgtatAatggctctaaaaataaccaa	8	7	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:64975209A>G	ENST00000399262.2	-	7	1047	c.829T>C	c.(829-831)Tat>Cat	p.Y277H	JMJD1C_ENST00000399251.1_Missense_Mutation_p.Y58H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.Y58H|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y95H|JMJD1C_ENST00000489372.2_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	277					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)					GCACGTGTATAATGGCTCTAA	0.378																																					p.Y277H		.											.	JMJD1C-275	0			c.T829C						.						210	181	190					10																	64975209		1902	4121	6023	SO:0001583	missense	221037	exon7			GTGTATAATGGCT	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.829T>C	10.37:g.64975209A>G	ENSP00000382204:p.Tyr277His	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	59	53	NM_032776	0	0	0	0	0	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424025	0.62733	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.6	5.6	0.85130	.	0.082597	0.49916	U	0.000122	T	0.30008	0.0751	L	0.60455	1.87	0.58432	D	0.999996	B;D	0.64830	0.361;0.994	B;P	0.58077	0.076;0.832	T	0.01256	-1.1404	10	0.62326	D	0.03	-11.3013	15.7859	0.78304	1.0:0.0:0.0:0.0	.	277;95	Q15652;A0T124	JHD2C_HUMAN;.	H	277;58;58;95	ENSP00000382204:Y277H;ENSP00000384990:Y58H;ENSP00000382195:Y58H;ENSP00000444682:Y95H	ENSP00000382195:Y58H	Y	-	1	0	JMJD1C	64645215	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	8.371000	0.90123	2.140000	0.66376	0.533000	0.62120	TAT	.		0.378	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64975209	A	G	64975209	3	3	27	1	0	0	0	0	1	0	0	0	7977	362	13	4	6873	4	JMJD1C	10	64975209	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	16546313	64975209	70559538	182	4742											
CBARA1	10367	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	74235015	74235015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttggacgatctctgtggCgcatacccatactggtttgg	12	9	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:74235015C>T	ENST00000361114.5	-	8	872	c.776G>A	c.(775-777)cGc>cAc	p.R259H	MICU1_ENST00000401998.3_Missense_Mutation_p.R259H|MICU1_ENST00000398763.4_Missense_Mutation_p.R61H|MICU1_ENST00000398761.4_Missense_Mutation_p.R261H|MICU1_ENST00000418483.2_Missense_Mutation_p.R61H	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	259					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ATCTCTGTGGCGCATACCCAT	0.443																																					p.R259H		.											.	.	0			c.G776A						.						77	75	75					10																	74235015		1976	4156	6132	SO:0001583	missense	10367	exon8			CTGTGGCGCATAC	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.776G>A	10.37:g.74235015C>T	ENSP00000354415:p.Arg259His	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	136	129	NM_001195518	0	0	1	55	54	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607482	0.96626	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.66280	1.99;-0.2;1.99;0.8;0.53	5.4	5.4	0.78164	.	0.061112	0.64402	D	0.000003	T	0.81621	0.4861	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.993	T	0.82940	-0.0208	10	0.52906	T	0.07	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	61;61;259	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	H	259;261;259;61;61	ENSP00000354415:R259H;ENSP00000381745:R261H;ENSP00000384068:R259H;ENSP00000402470:R61H;ENSP00000381747:R61H	ENSP00000354415:R259H	R	-	2	0	MICU1	73905021	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.792000	0.85828	2.528000	0.85240	0.650000	0.86243	CGC	.		0.443	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		T	74235015	C	T	74235015	3	4	27	1	0	0	0	0	1	0	0	0	2703	768	27	1	674	1	CBARA1	10	74235015	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9259806	74235015	61299732	183	4743											
GRID1	2894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	87379740	87379740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcatccgtcagggctgcGtattccaccacggccacatc	9	16	2	0	rs543588600		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:87379740G>A	ENST00000327946.7	-	14	2329	c.2244C>T	c.(2242-2244)taC>taT	p.Y748Y	GRID1_ENST00000536331.1_Silent_p.Y319Y	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	748					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCAGGGCTGCGTATTCCACCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	8e-04	0	5008	,	,		21823	0		0	False		,,,				2504	0				p.Y748Y		.											.	GRID1-142	0			c.C2244T						.						135	96	109					10																	87379740		2203	4300	6503	SO:0001819	synonymous_variant	2894	exon14			GGCTGCGTATTCC	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.2244C>T	10.37:g.87379740G>A		Somatic	298	2		WXS	Illumina GAIIx	Phase_I	194	166	NM_017551	0	0	0	8	8	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																			.		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87379740	G	A	87379740	2	1	27	1	0	0	0	0	0	0	0	1	6798	1140	40	1		1	GRID1	10	87379740	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	13144725	87379740	48155007	184	4744											
MMRN2	79812	hgsc.bcm.edu	37	chr10	88702603	88702603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctgctcctgcagcccGctagcggcgtcctgcagggc	14	17	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:88702603G>A	ENST00000372027.5	-	6	2259	c.1938C>T	c.(1936-1938)agC>agT	p.S646S	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	646					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						CCTGCAGCCCGCTAGCGGCGT	0.731																																					p.S646S		.											.	MMRN2-153	0			c.C1938T						.						8	8	8					10																	88702603		2138	4209	6347	SO:0001819	synonymous_variant	79812	exon6			CAGCCCGCTAGCG	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.1938C>T	10.37:g.88702603G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_024756	0	0	3	55	52	Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	CCDS7379.1																																																																																			.		0.731	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		A	88702603	G	A	88702603	2	1	27	1	0	0	0	0	0	0	0	1	9709	1078	38	1		1	MMRN2	10	88702603	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1322863	88702603	46832144	185	4745											
MYOF	26509	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	95103662	95103662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatttcgataacgatgtccCggcatggtggggcagacaga	13	10	0	2	rs201449564	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:95103662C>T	ENST00000359263.4	-	38	4276	c.4277G>A	c.(4276-4278)cGg>cAg	p.R1426Q	MYOF_ENST00000358334.5_Missense_Mutation_p.R1413Q|MYOF_ENST00000371501.4_Missense_Mutation_p.R1426Q|MYOF_ENST00000371502.4_Missense_Mutation_p.R1426Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1426					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACGATGTCCCGGCATGGTGG	0.428													C|||	4	0.000798722	0.003	0	5008	,	,		20763	0		0	False		,,,				2504	0				p.R1426Q		.											.	MYOF-93	0			c.G4277A						.	C	GLN/ARG,GLN/ARG	5,3873		0,5,1934	120	118	119		4277,4238	3.9	1	10		119	0,8252		0,0,4126	yes	missense,missense	MYOF	NM_013451.3,NM_133337.2	43,43	0,5,6060	TT,TC,CC		0.0,0.1289,0.0412	benign,benign	1426/2062,1413/2049	95103662	5,12125	1939	4126	6065	SO:0001583	missense	26509	exon38			ATGTCCCGGCATG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4277G>A	10.37:g.95103662C>T	ENSP00000352208:p.Arg1426Gln	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	67	62	NM_013451	0	0	1	7	6	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.983	1.228661	0.22542	0.001289	0.0	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.71	3.86	0.44501	.	0.666605	0.15162	N	0.277089	T	0.72187	0.3429	L	0.34521	1.04	0.36593	D	0.874229	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.001	T	0.64676	-0.6351	10	0.18710	T	0.47	-8.5205	9.1438	0.36919	0.0:0.7535:0.0:0.2465	.	1413;1426	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1413;1426;1426;1426	ENSP00000351094:R1413Q;ENSP00000352208:R1426Q;ENSP00000360556:R1426Q;ENSP00000360557:R1426Q	ENSP00000351094:R1413Q	R	-	2	0	MYOF	95093652	0.990000	0.36364	0.987000	0.45799	0.553000	0.35397	0.343000	0.19944	0.766000	0.33244	0.655000	0.94253	CGG	C|1.000;T|0.000		0.428	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		T	95103662	C	T	95103662	3	4	27	1	0	0	0	0	1	0	0	0	10127	652	23	1	1976	1	MYOF	10	95103662	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6401059	95103662	40431085	186	4746											
XPNPEP1	7511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	111633162	111633162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccaaaatgcattgtcCgcgtcacatctgtggtgcca	11	12	2	0	rs201456347		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:111633162C>T	ENST00000502935.1	-	16	1534	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R429Q|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R358Q|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R448Q					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)		ATGCATTGTCCGCGTCACATC	0.438																																					p.R472Q		.											.	XPNPEP1-94	0			c.G1415A						.						169	150	157					10																	111633162		2203	4300	6503	SO:0001583	missense	7511	exon16			ATTGTCCGCGTCA		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.1415G>A	10.37:g.111633162C>T	ENSP00000421566:p.Arg472Gln	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	146	129	NM_020383	0	0	1	33	32		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	36	5.623871	0.96660	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.82	5.82	0.92795	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	H	0.99971	5.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98393	1.0564	10	0.87932	D	0	-15.4577	18.2796	0.90094	0.0:1.0:0.0:0.0	.	472;429	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	Q	472;358;448;429	ENSP00000421566:R472Q;ENSP00000358697:R358Q;ENSP00000324011:R448Q;ENSP00000358694:R429Q	ENSP00000324011:R448Q	R	-	2	0	XPNPEP1	111623152	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.506000	0.81665	2.752000	0.94435	0.655000	0.94253	CGG	C|0.999;T|0.001		0.438	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			T	111633162	C	T	111633162	3	4	27	1	0	0	0	0	1	0	0	0	17491	652	23	1	609	1	XPNPEP1	10	111633162	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	16529500	111633162	23901585	187	4747											
DMBT1	1755	ucsc.edu	37	chr10	124339362	124339362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagctgcccccacaaTggctggctcacccacaactg	10	16	1	0	rs202149132	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:124339362T>A	ENST00000338354.3	+	10	1054	c.948T>A	c.(946-948)aaT>aaA	p.N316K	DMBT1_ENST00000368955.3_Missense_Mutation_p.N316K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N316K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N316K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N316K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N316K|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	316	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCCCACAATGGCTGGCTCA	0.582													T|||	102	0.0203674	0.0197	0.013	5008	,	,		19464	0		0.0189	False		,,,				2504	0.0491				p.N316K	Ovarian(182;93 2026 18125 22222 38972)	.											.	DMBT1-494	0			c.T948A						.						82	81	82					10																	124339362		1911	4136	6047	SO:0001583	missense	1755	exon10			CCACAATGGCTGG		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.948T>A	10.37:g.124339362T>A	ENSP00000342210:p.Asn316Lys	Somatic	225	7		WXS	Illumina GAIIx	Phase_I	148	37	NM_007329	0	0	0	0	0	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	T	0.549	-0.850127	0.02651	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	3.85	-7.69	0.01263	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.43033	0.1229	L	0.61387	1.9	0.09310	N	0.999999	P;P;B;D;P	0.65815	0.768;0.935;0.12;0.995;0.889	B;P;B;P;P	0.59357	0.264;0.503;0.01;0.856;0.769	T	0.32508	-0.9904	9	0.07175	T	0.84	.	6.8329	0.23921	0.2549:0.1658:0.0:0.5793	.	316;316;316;316;316	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	K	316	ENSP00000342210:N316K;ENSP00000343175:N316K;ENSP00000327747:N316K;ENSP00000357905:N316K;ENSP00000357951:N316K;ENSP00000357952:N316K	ENSP00000331522:N316K	N	+	3	2	DMBT1	124329352	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-10.493000	0.00006	-3.599000	0.00134	-0.495000	0.04643	AAT	T|0.994;A|0.006		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124339362	T	A	124339362	3	1	27	1	0	0	0	0	1	0	0	0	4591	1461	51	5	986	5	DMBT1	10	124339362	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	12706200	124339362	11195385	188	4748											
C10orf120	399814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	124458908	124458908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcaatccgtgggtctgatCtgtagaatttgctccatatc	11	9	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr10:124458908C>T	ENST00000329446.4	-	2	228	c.197G>A	c.(196-198)aGa>aAa	p.R66K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	66										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGGGTCTGATCTGTAGAATTT	0.488																																					p.R66K		.											.	C10orf120-91	0			c.G197A						.						66	69	68					10																	124458908		2203	4300	6503	SO:0001583	missense	399814	exon2			TCTGATCTGTAGA		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.197G>A	10.37:g.124458908C>T	ENSP00000331012:p.Arg66Lys	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	65	18	NM_001010912	0	0	0	0	0	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.007|0.007	-2.016810|-2.016810	0.00418|0.00418	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000432000|ENST00000329446	.|T	.|0.26810	.|1.71	4.83|4.83	-1.64|-1.64	0.08318|0.08318	.|.	.|0.941678	.|0.08887	.|N	.|0.879168	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.00170|0.00170	-1.935|-1.935	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.40627|0.40627	-0.9553|-0.9553	5|10	.|0.02654	.|T	.|1	-5.9687|-5.9687	4.8314|4.8314	0.13441|0.13441	0.0:0.3216:0.3683:0.3101|0.0:0.3216:0.3683:0.3101	.|.	.|66	.|Q5SQS8	.|CJ120_HUMAN	N|K	59|66	.|ENSP00000331012:R66K	.|ENSP00000331012:R66K	D|R	-|-	1|2	0|0	C10orf120|C10orf120	124448898|124448898	0.003000|0.003000	0.15002|0.15002	0.038000|0.038000	0.18304|0.18304	0.015000|0.015000	0.08874|0.08874	-0.062000|-0.062000	0.11674|0.11674	-0.151000|-0.151000	0.11176|0.11176	-0.219000|-0.219000	0.12488|0.12488	GAT|AGA	.		0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		T	124458908	C	T	124458908	3	4	27	1	0	0	0	0	1	0	0	0	1595	913	32	3	818	3	C10orf120	10	124458908	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	119546	124458908	11075839	189	4749											
TRIM5	85363	broad.mit.edu	37	chr11	5701024	5701024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctcctctgtgaggaaCgtgtggtgaccacggtgctc	13	12	1	2	rs148054117	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:5701024C>T	ENST00000380034.3	-	2	640	c.384G>A	c.(382-384)acG>acA	p.T128T	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Silent_p.T128T|TRIM5_ENST00000396855.3_Silent_p.T128T|TRIM5_ENST00000380027.1_Silent_p.T128T|TRIM5_ENST00000396847.3_Silent_p.T128T|TRIM5_ENST00000396853.4_Silent_p.T128T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	128					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)		CTGTGAGGAACGTGTGGTGAC	0.532																																					p.T128T		.											.	TRIM5-227	0			c.G384A						.	C	,,	1,4401	4.2+/-10.8	0,1,2200	132	115	121		384,384,384	-8.1	0	11	dbSNP_134	121	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	TRIM5	NM_033034.2,NM_033092.2,NM_033093.2	,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,	128/494,128/348,128/327	5701024	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	85363	exon2			GAGGAACGTGTGG	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.384G>A	11.37:g.5701024C>T		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	126	5	NM_033093	0	0	8	10	2	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	Silent	SNP	ENST00000380034.3	37	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.503660	0.00992	2.27E-4	0.0	ENSG00000132256	ENST00000438025	.	.	.	4.07	-8.15	0.01065	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.04737	-1.0930	4	.	.	.	.	2.4418	0.04496	0.2479:0.3834:0.1652:0.2036	.	.	.	.	H	5	.	.	R	-	2	0	TRIM5	5657600	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.877000	0.00175	-4.271000	0.00060	-4.755000	0.00003	CGT	C|1.000;T|0.000		0.532	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		T	5701024	C	T	5701024	2	4	27	1	0	0	0	0	0	0	0	1	16573	523	19	1		1	TRIM5	11	5701024	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		5701024	129305492	190	4750											
NRIP3	56675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	9009807	9009807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggtttccatgaggcgcCtctgcagaatattatgaggt	13	7	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:9009807C>T	ENST00000309166.3	-	2	310	c.197G>A	c.(196-198)aGg>aAg	p.R66K	NRIP3_ENST00000531090.1_Missense_Mutation_p.R66K	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	66							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CATGAGGCGCCTCTGCAGAAT	0.512																																					p.R66K		.											.	NRIP3-186	0			c.G197A						.						87	84	85					11																	9009807		2201	4296	6497	SO:0001583	missense	56675	exon2			AGGCGCCTCTGCA	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"chromosome 11 open reading frame 14"	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.197G>A	11.37:g.9009807C>T	ENSP00000310205:p.Arg66Lys	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	99	88	NM_020645	0	0	0	1	1	Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490471	0.64074	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.52295	0.67	5.94	5.01	0.66863	.	0.048179	0.85682	D	0.000000	T	0.42449	0.1203	M	0.65498	2.005	0.34632	D	0.719693	B	0.12013	0.005	B	0.14023	0.01	T	0.49457	-0.8938	10	0.15499	T	0.54	-21.7151	9.347	0.38115	0.1468:0.7781:0.0:0.0751	.	66	Q9NQ35	NRIP3_HUMAN	K	66;66;59	ENSP00000310205:R66K	ENSP00000310205:R66K	R	-	2	0	NRIP3	8966383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.561000	0.45905	1.475000	0.48197	0.655000	0.94253	AGG	.		0.512	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		T	9009807	C	T	9009807	3	4	27	1	0	0	0	0	1	0	0	0	10693	681	24	3	552	3	NRIP3	11	9009807	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3308783	9009807	125996709	191	4751											
MICAL2	9645	bcgsc.ca	37	chr11	12265542	12265542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgcagaataaactActctctaaaggcctgtctca	7	10	3	1	rs2270511	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:12265542A>G	ENST00000256194.4	+	21	2955	c.2667A>G	c.(2665-2667)ctA>ctG	p.L889L	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Silent_p.L889L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	889					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGAATAAACTACTCTCTAAAG	0.483													A|||	1047	0.209065	0.1551	0.2651	5008	,	,		20969	0.2103		0.168	False		,,,				2504	0.2832				p.L889L		.											.	MICAL2-92	0			c.A2667G						.	A		794,3608	317.7+/-295.3	73,648,1480	316	275	289		2667	-10.5	0.4	11	dbSNP_100	289	1318,7270	259.5+/-282.7	98,1122,3074	no	coding-synonymous	MICAL2	NM_014632.2		171,1770,4554	GG,GA,AA		15.347,18.0373,16.2587		889/1125	12265542	2112,10878	2201	4294	6495	SO:0001819	synonymous_variant	9645	exon21			TAAACTACTCTCT	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.2667A>G	11.37:g.12265542A>G		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	114	5	NM_014632	0	0	0	0	0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																			A|0.826;G|0.174		0.483	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		G	12265542	A	G	12265542	2	3	27	1	0	0	0	0	0	0	0	1	9608	378	14	4		4	MICAL2	11	12265542	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	3255735	12265542	122740974	192	4752											
PLEKHA7	144100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	16838355	16838355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagcctcaccttgacagCgtggccccgtgccctccttg	10	19	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:16838355C>T	ENST00000355661.3	-	11	1868	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A620T|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A620T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	620	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACCTTGACAGCGTGGCCCCGT	0.592																																					p.A620T		.											.	PLEKHA7-227	0			c.G1858A						.						51	48	49					11																	16838355		2195	4286	6481	SO:0001583	missense	144100	exon11			TGACAGCGTGGCC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1858G>A	11.37:g.16838355C>T	ENSP00000347883:p.Ala620Thr	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	70	63	NM_175058	0	0	0	0	0	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	0.273	-0.991565	0.02162	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.31769	1.48;1.48;1.48	4.95	-6.78	0.01721	.	1.042540	0.07464	N	0.901074	T	0.16557	0.0398	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.004;0.004	B;B;B;B	0.09377	0.001;0.002;0.001;0.004	T	0.41142	-0.9525	10	0.08381	T	0.77	-0.0017	10.2044	0.43105	0.0:0.3361:0.0928:0.5711	.	194;620;620;620	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	T	620	ENSP00000435389:A620T;ENSP00000347883:A620T;ENSP00000416895:A620T	ENSP00000347883:A620T	A	-	1	0	PLEKHA7	16794931	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-1.430000	0.02434	-1.280000	0.02402	0.563000	0.77884	GCT	.		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16838355	C	T	16838355	3	4	27	1	0	0	0	0	1	0	0	0	12100	768	27	1	1559	1	PLEKHA7	11	16838355	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4572813	16838355	118168161	193	4753											
MRGPRX4	117196	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18195449	18195449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctgaccaggctgtacGtgaccatcctgctcacagtg	11	14	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:18195449G>A	ENST00000314254.3	+	1	1066	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGGCTGTACGTGACCATCCT	0.547																																					p.V216M		.											.	MRGPRX4-91	0			c.G646A						.						113	103	106					11																	18195449		2199	4293	6492	SO:0001583	missense	117196	exon1			CTGTACGTGACCA	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.646G>A	11.37:g.18195449G>A	ENSP00000314042:p.Val216Met	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	68	63	NM_054032	0	0	0	0	0	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875523	0.33162	.	.	ENSG00000179817	ENST00000314254	T	0.38077	1.16	2.85	-2.8	0.05823	GPCR, rhodopsin-like superfamily (1);	1.247870	0.05482	N	0.554946	T	0.61350	0.2340	M	0.89840	3.065	0.09310	N	1	D	0.71674	0.998	D	0.64410	0.925	T	0.57323	-0.7831	10	0.66056	D	0.02	.	8.1354	0.31052	0.0:0.4517:0.3952:0.1531	.	216	Q96LA9	MRGX4_HUMAN	M	216	ENSP00000314042:V216M	ENSP00000314042:V216M	V	+	1	0	MRGPRX4	18152025	0.000000	0.05858	0.004000	0.12327	0.107000	0.19398	-0.481000	0.06552	-0.249000	0.09569	-1.151000	0.01829	GTG	.		0.547	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		A	18195449	G	A	18195449	3	1	27	1	0	0	0	0	1	0	0	0	9807	1145	40	1	648	1	MRGPRX4	11	18195449	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1357094	18195449	116811067	194	4754											
C11orf41	25758	bcgsc.ca	37	chr11	33564163	33564163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagccccatggcagaactgTcccatccgtctccccctccc	7	20	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:33564163T>C	ENST00000321505.4	+	1	343	c.163T>C	c.(163-165)Tcc>Ccc	p.S55P	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S55P|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S55P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	55						integral component of membrane (GO:0016021)											GGCAGAACTGTCCCATCCGTC	0.552																																					p.S55P		.											.	.	0			c.T163C						.						98	99	99					11																	33564163		1939	4140	6079	SO:0001583	missense	25758	exon1			GAACTGTCCCATC	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.163T>C	11.37:g.33564163T>C	ENSP00000315295:p.Ser55Pro	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	91	5	NM_012194	0	0	0	0	0	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	1.429	-0.570802	0.03910	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.62	-2.09	0.07232	.	.	.	.	.	T	0.14960	0.0361	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.33266	-0.9875	8	0.02654	T	1	.	3.6366	0.08151	0.093:0.1163:0.2312:0.5596	.	55;55	E9PAT2;Q6ZVL6-2	.;.	P	55	.	ENSP00000265654:S55P	S	+	1	0	C11orf41	33520739	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	-0.257000	0.08745	0.022000	0.15160	-0.396000	0.06452	TCC	.		0.552	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		C	33564163	T	C	33564163	3	2	27	1	0	0	0	0	1	0	0	0	1645	1667	58	4	165	4	C11orf41	11	33564163	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	15368714	33564163	101442353	195	4755											
FNBP4	23360	hgsc.bcm.edu	37	chr11	47788731	47788731	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggttgagtccggctcaGtgtcgggttccggctccggg	17	13	1	1	rs112054219	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:47788731G>C	ENST00000263773.5	-	1	122	c.110C>G	c.(109-111)aCt>aGt	p.T37S	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	37						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						GTCCGGCTCAGTGTCGGGTTC	0.766													G|||	33	0.00658946	0.0023	0.0043	5008	,	,		11411	0		0.0149	False		,,,				2504	0.0123				p.T37S		.											.	FNBP4-91	0			c.C110G						.	G	SER/THR	6,2810		0,6,1402	3	4	4		110	1.8	0	11	dbSNP_132	4	103,6601		0,103,3249	no	missense	FNBP4	NM_015308.2	58	0,109,4651	CC,CG,GG		1.5364,0.2131,1.145	benign	37/1018	47788731	109,9411	1408	3352	4760	SO:0001583	missense	23360	exon1			GGCTCAGTGTCGG	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.110C>G	11.37:g.47788731G>C	ENSP00000263773:p.Thr37Ser	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_015308	0	0	0	1	1	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995333	0.35226	0.002131	0.015364	ENSG00000109920	ENST00000263773	T	0.28069	1.63	4.69	1.84	0.25277	.	1.223540	0.05727	N	0.598842	T	0.09642	0.0237	N	0.24115	0.695	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.25572	-1.0128	10	0.11485	T	0.65	1.2154	5.9545	0.19265	0.18:0.1624:0.6575:0.0	.	37	Q8N3X1	FNBP4_HUMAN	S	37	ENSP00000263773:T37S	ENSP00000263773:T37S	T	-	2	0	FNBP4	47745307	0.012000	0.17670	0.005000	0.12908	0.020000	0.10135	0.414000	0.21164	0.716000	0.32124	-0.127000	0.14921	ACT	.		0.766	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			C	47788731	G	C	47788731	3	2	27	1	0	0	0	0	1	0	0	0	5989	1029	36	3	3011	3	FNBP4	11	47788731	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14224568	47788731	87217785	196	4756											
SMTNL1	219537	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57313434	57313434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagaaggcaccagagcGcagggtatcagcccctgctc	14	12	1	2	rs531246829		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:57313434G>A	ENST00000399154.2	+	5	887	c.887G>A	c.(886-888)cGc>cAc	p.R296H	SMTNL1_ENST00000457912.1_Missense_Mutation_p.R351H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.R333H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	296					negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCACCAGAGCGCAGGGTATCA	0.642													G|||	1	0.000199681	0	0	5008	,	,		12694	0		0.001	False		,,,				2504	0				p.R333H		.											.	SMTNL1-23	0			c.G998A						.						32	36	35					11																	57313434		1885	4105	5990	SO:0001583	missense	219537	exon4			CAGAGCGCAGGGT	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.887G>A	11.37:g.57313434G>A	ENSP00000382108:p.Arg296His	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	128	58	NM_001105565	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399154.2	37		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633521	0.47049	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.04049	3.72;3.72;3.72	4.98	3.02	0.34903	.	0.299613	0.18371	U	0.143269	T	0.03477	0.0100	L	0.34521	1.04	0.28527	N	0.912774	P	0.51240	0.943	B	0.35727	0.209	T	0.34229	-0.9837	10	0.72032	D	0.01	-9.8848	8.1617	0.31202	0.0905:0.1629:0.7466:0.0	.	351	C9J621	.	H	351;333;296	ENSP00000406485:R351H;ENSP00000432651:R333H;ENSP00000382108:R296H	ENSP00000382108:R296H	R	+	2	0	SMTNL1	57070010	0.876000	0.30132	1.000000	0.80357	0.966000	0.64601	0.253000	0.18296	2.591000	0.87537	0.655000	0.94253	CGC	.		0.642	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		A	57313434	G	A	57313434	3	1	27	1	0	0	0	0	1	0	0	0	14860	1087	38	1	1070	1	SMTNL1	11	57313434	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9524703	57313434	77693082	197	4757											
RCOR2	283248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	63679516	63679516	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgggggtggctgtcGgagcagagtgggagccgtgg	22	7	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:63679516G>A	ENST00000301459.4	-	12	1780	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	RCOR2_ENST00000473926.2_5'UTR	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	465	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GGTGGCTGTCGGAGCAGAGTG	0.741																																					p.R465X		.											.	RCOR2-92	0			c.C1393T						.						4	5	4					11																	63679516		1674	3342	5016	SO:0001587	stop_gained	283248	exon12			GCTGTCGGAGCAG	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1393C>T	11.37:g.63679516G>A	ENSP00000301459:p.Arg465*	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_173587	0	0	0	3	3	Q96FP3	Nonsense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	G	41	8.679022	0.98912	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.69	3.76	0.43208	.	0.068043	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4058	0.60913	0.0:0.0:0.841:0.1589	.	.	.	.	X	465	.	ENSP00000301459:R465X	R	-	1	2	RCOR2	63436092	0.999000	0.42202	0.911000	0.35937	0.974000	0.67602	3.530000	0.53539	1.317000	0.45149	0.499000	0.49734	CGA	.		0.741	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		A	63679516	G	A	63679516	4	1	27	1	0	0	0	0	0	1	0	0	13228	1124	39	1	182	1	RCOR2	11	63679516	Nonsense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6366082	63679516	71327000	198	4758											
RPS6KA4	8986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64127716	64127716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaaggtgctgcgcaaggCggcgctggtgcagcgcgcca	17	12	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:64127716C>T	ENST00000334205.4	+	3	274	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.A70V|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.A70V	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	70	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CTGCGCAAGGCGGCGCTGGTG	0.697																																					p.A70V		.											.	RPS6KA4-1036	0			c.C209T						.						10	9	10					11																	64127716		2010	3970	5980	SO:0001583	missense	8986	exon3			GCAAGGCGGCGCT	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.209C>T	11.37:g.64127716C>T	ENSP00000333896:p.Ala70Val	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	48	40	NM_001006944	0	0	0	8	8	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.459640	0.43736	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.08	3.06	0.35304	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148717	0.42548	D	0.000686	T	0.67896	0.2942	L	0.51914	1.62	0.39286	D	0.964659	D;D;D;D	0.89917	0.988;0.999;1.0;1.0	B;P;D;D	0.69307	0.402;0.708;0.963;0.953	T	0.70714	-0.4796	10	0.87932	D	0	.	6.4245	0.21762	0.2044:0.597:0.1986:0.0	.	70;70;70;70	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	V	70;70;70;54	ENSP00000435580:A70V;ENSP00000333896:A70V;ENSP00000294261:A70V;ENSP00000432945:A54V	ENSP00000294261:A70V	A	+	2	0	RPS6KA4	63884292	1.000000	0.71417	0.993000	0.49108	0.111000	0.19643	4.440000	0.59975	2.228000	0.72767	0.563000	0.77884	GCG	.		0.697	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		T	64127716	C	T	64127716	3	4	27	1	0	0	0	0	1	0	0	0	13698	768	27	1	219	1	RPS6KA4	11	64127716	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	448200	64127716	70878800	199	4759											
GAL3ST3	89792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65810719	65810719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagtatgcctcgggcgcGcgcaggaaggcctcgagcga	17	12	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:65810719G>A	ENST00000312006.4	-	3	836	c.555C>T	c.(553-555)cgC>cgT	p.R185R	GAL3ST3_ENST00000527878.1_Silent_p.R185R	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	185					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCTCGGGCGCGCGCAGGAAGG	0.682																																					p.R185R		.											.	GAL3ST3-91	0			c.C555T						.						34	37	36					11																	65810719		2201	4293	6494	SO:0001819	synonymous_variant	89792	exon3			GGGCGCGCGCAGG	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.555C>T	11.37:g.65810719G>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	108	57	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			.		0.682	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		A	65810719	G	A	65810719	2	1	27	1	0	0	0	0	0	0	0	1	6224	1074	38	1		1	GAL3ST3	11	65810719	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1683003	65810719	69195797	200	4760											
SPTBN2	6712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66483354	66483354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggttgcgtccgtcccGgaggtcgctgtacaggtccc	14	14	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:66483354G>A	ENST00000533211.1	-	4	587	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R86W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R86W|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	86	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						CGTCCGTCCCGGAGGTCGCTG	0.597																																					p.R86W		.											.	SPTBN2-155	0			c.C256T						.						79	64	69					11																	66483354		2200	4295	6495	SO:0001583	missense	6712	exon3			CGTCCCGGAGGTC	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.256C>T	11.37:g.66483354G>A	ENSP00000432568:p.Arg86Trp	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	114	54	NM_006946	0	0	0	3	3	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202037	0.94997	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.04	5.04	0.67666	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88576	0.3133	10	0.87932	D	0	.	17.3198	0.87232	0.0:0.0:1.0:0.0	.	86	O15020	SPTN2_HUMAN	W	86	ENSP00000432568:R86W;ENSP00000311489:R86W;ENSP00000433593:R86W;ENSP00000433631:R86W	ENSP00000311489:R86W	R	-	1	2	SPTBN2	66239930	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.431000	0.52814	2.611000	0.88343	0.561000	0.74099	CGG	.		0.597	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66483354	G	A	66483354	3	1	27	1	0	0	0	0	1	0	0	0	15167	1115	39	1	7056	1	SPTBN2	11	66483354	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	672635	66483354	68523162	201	4761											
PIWIL4	143689	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	94340769	94340769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctatgcagatgacttgCaagctcggaggcgagctgtg	14	9	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:94340769C>T	ENST00000299001.6	+	14	2014	c.1803C>T	c.(1801-1803)tgC>tgT	p.C601C	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	601	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGATGACTTGCAAGCTCGGAG	0.438																																					p.C601C		.											.	PIWIL4-91	0			c.C1803T						.						75	72	73					11																	94340769		2201	4298	6499	SO:0001819	synonymous_variant	143689	exon14			GACTTGCAAGCTC	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1803C>T	11.37:g.94340769C>T		Somatic	60	1		WXS	Illumina GAIIx	Phase_I	46	41	NM_152431	0	0	0	0	0	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	CCDS31656.1																																																																																			.		0.438	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		T	94340769	C	T	94340769	2	4	27	1	0	0	0	0	0	0	0	1	11999	718	25	3		3	PIWIL4	11	94340769	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	27857415	94340769	40665747	202	4762											
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	108098418	108098418	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgatagagctacagaaCgaaaggtagtaaattactta	8	5	0	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:108098418C>T	ENST00000452508.2	+	3	256	c.67C>T	c.(67-69)Cga>Tga	p.R23*	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Nonsense_Mutation_p.R23*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	23			R -> Q (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	AGCTACAGAACGAAAGGTAGT	0.323			"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.R23X		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM-3419	0			c.C67T	GRCh37	CM024724	ATM	M		.						128	127	128					11																	108098418		2201	4297	6498	SO:0001587	stop_gained	472	exon2	Familial Cancer Database	AT, Louis-Bar syndrome	ACAGAACGAAAGG	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.67C>T	11.37:g.108098418C>T	ENSP00000388058:p.Arg23*	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	119	110	NM_000051	0	0	0	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306151	0.95629	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000527891;ENST00000532931;ENST00000452508	.	.	.	5.29	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5295	0.61613	0.2822:0.7177:0.0:0.0	.	.	.	.	X	23	.	ENSP00000278616:R23X	R	+	1	2	ATM	107603628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.397000	0.44477	1.338000	0.45544	0.563000	0.77884	CGA	.		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108098418	C	T	108098418	4	4	27	1	0	0	0	0	0	1	0	0	1110	528	19	1	69	1	ATM	11	108098418	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	13757649	108098418	26908098	203	4763											
SORL1	6653	ucsc.edu;bcgsc.ca	37	chr11	121458770	121458770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactttgtgtgtaagaacCgccagcagtgcctgttccac	11	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr11:121458770C>T	ENST00000260197.7	+	28	3985	c.3856C>T	c.(3856-3858)Cgc>Tgc	p.R1286C	SORL1_ENST00000532694.1_Missense_Mutation_p.R132C|SORL1_ENST00000525532.1_Missense_Mutation_p.R230C|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000534286.1_Missense_Mutation_p.R196C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1286	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTGTAAGAACCGCCAGCAGTG	0.587																																					p.R1286C		.											.	SORL1-228	0			c.C3856T						.						128	105	113					11																	121458770		2203	4299	6502	SO:0001583	missense	6653	exon28			AAGAACCGCCAGC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3856C>T	11.37:g.121458770C>T	ENSP00000260197:p.Arg1286Cys	Somatic	109	2		WXS	Illumina GAIIx	Phase_I	53	19	NM_003105	0	0	2	4	2	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581092	0.65992	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	P	0.56042	0.79	D	0.96408	0.9302	10	0.56958	D	0.05	.	14.3277	0.66530	0.1481:0.8519:0.0:0.0	.	1286	Q92673	SORL_HUMAN	C	1286;230;132;196	ENSP00000260197:R1286C;ENSP00000434634:R230C;ENSP00000432131:R132C;ENSP00000436447:R196C	ENSP00000260197:R1286C	R	+	1	0	SORL1	120963980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.390000	0.59646	2.595000	0.87683	0.655000	0.94253	CGC	.		0.587	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		T	121458770	C	T	121458770	3	4	27	1	0	0	0	0	1	0	0	0	14979	652	23	1	3966	1	SORL1	11	121458770	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	13360352	121458770	13547746	204	4764											
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	1906598	1906598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacttctggcagggcccGcactccacgatcccgttggc	10	16	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:1906598G>A	ENST00000382722.5	-	35	3461	c.3099C>T	c.(3097-3099)tgC>tgT	p.C1033C	CACNA2D4_ENST00000586184.1_Silent_p.C1033C|CACNA2D4_ENST00000585708.1_Silent_p.C969C|CACNA2D4_ENST00000588077.1_Silent_p.C969C|CACNA2D4_ENST00000538027.2_Silent_p.C178C|CACNA2D4_ENST00000587995.1_Silent_p.C1008C|CACNA2D4_ENST00000538450.1_Silent_p.C163C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1033					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)		GGCAGGGCCCGCACTCCACGA	0.706																																					p.C1033C	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C3099T						.						21	24	23					12																	1906598		1897	4083	5980	SO:0001819	synonymous_variant	93589	exon35			GGGCCCGCACTCC	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.3099C>T	12.37:g.1906598G>A		Somatic	25	0		WXS	Illumina GAIIx	Phase_I	30	21	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																			.		0.706	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	1906598	G	A	1906598	2	1	27	1	0	0	0	0	0	0	0	1	2558	1079	38	1		1	CACNA2D4	12	1906598	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		1906598	131945297	205	4765											
NRIP2	83714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	2937196	2937196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccagctgaggcttttAggacccttttctctaacctg	9	13	1	1	rs200104814		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:2937196A>G	ENST00000337508.4	-	4	636	c.596T>C	c.(595-597)cTa>cCa	p.L199P	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	199					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGAGGCTTTTAGGACCCTTTT	0.592																																					p.L199P		.											.	NRIP2-187	0			c.T596C						.						50	54	53					12																	2937196		2203	4300	6503	SO:0001583	missense	83714	exon4			GCTTTTAGGACCC	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.596T>C	12.37:g.2937196A>G	ENSP00000337501:p.Leu199Pro	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	38	12	NM_031474	0	0	3	3	0	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	A	2.147	-0.395420	0.04899	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990	T	0.53640	0.61	4.15	2.36	0.29203	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.791843	0.10815	N	0.631179	T	0.36082	0.0954	L	0.41027	1.25	0.28377	N	0.919732	B	0.09022	0.002	B	0.12156	0.007	T	0.31833	-0.9929	10	0.48119	T	0.1	-3.516	4.966	0.14091	0.7729:0.0:0.2271:0.0	.	199	Q9BQI9	NRIP2_HUMAN	P	199;188;149	ENSP00000337501:L199P	ENSP00000337501:L199P	L	-	2	0	NRIP2	2807457	0.035000	0.19736	0.101000	0.21167	0.215000	0.24574	0.446000	0.21694	0.329000	0.23460	0.402000	0.26972	CTA	A|0.999;G|0.001		0.592	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		G	2937196	A	G	2937196	3	3	27	1	0	0	0	0	1	0	0	0	10692	420	15	4	261	4	NRIP2	12	2937196	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1030598	2937196	130914699	206	4766											
CD9	928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6342621	6342621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgccattgaaatagctgCggccatctggggatattccc	10	11	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:6342621C>T	ENST00000382518.1	+	5	753	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CD9_ENST00000009180.4_Missense_Mutation_p.A106V|Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000382515.2_Missense_Mutation_p.A37V|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	106					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAAATAGCTGCGGCCATCTGG	0.542																																					p.A106V		.											.	CD9-91	0			c.C317T						.						127	112	117					12																	6342621		2203	4300	6503	SO:0001583	missense	928	exon4			TAGCTGCGGCCAT	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.317C>T	12.37:g.6342621C>T	ENSP00000371958:p.Ala106Val	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	193	98	NM_001769	0	0	136	265	129	D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792863	0.70452	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000543424;ENST00000009180;ENST00000382515	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.87	5.87	0.94306	.	0.043935	0.85682	D	0.000000	D	0.86908	0.6046	M	0.69248	2.105	0.80722	D	1	D;P	0.62365	0.991;0.772	P;P	0.58721	0.844;0.537	D	0.85563	0.1229	10	0.40728	T	0.16	.	17.6998	0.88291	0.0:1.0:0.0:0.0	.	106;106	B4DK09;P21926	.;CD9_HUMAN	V	106;106;129;106;19;106;37	ENSP00000371958:A106V;ENSP00000440985:A106V;ENSP00000371959:A129V;ENSP00000009180:A106V;ENSP00000371955:A37V	ENSP00000009180:A106V	A	+	2	0	CD9	6212882	0.999000	0.42202	0.351000	0.25721	0.059000	0.15707	4.183000	0.58317	2.785000	0.95823	0.655000	0.94253	GCG	.		0.542	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			T	6342621	C	T	6342621	3	4	27	1	0	0	0	0	1	0	0	0	3053	768	27	1	331	1	CD9	12	6342621	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3405425	6342621	127509274	207	4767											
ABCC9	10060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	21962829	21962829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatattcttcagctgagcAatttctaaggcttcccagag	7	11	3	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:21962829A>G	ENST00000261201.4	-	35	4271	c.4272T>C	c.(4270-4272)atT>atC	p.I1424I	ABCC9_ENST00000261200.4_Silent_p.I1424I|ABCC9_ENST00000345162.2_Silent_p.I1388I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1424	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TCAGCTGAGCAATTTCTAAGG	0.323																																					p.I1424I		.											.	ABCC9-96	0			c.T4272C						.						98	101	100					12																	21962829		2203	4300	6503	SO:0001819	synonymous_variant	10060	exon35			CTGAGCAATTTCT	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.4272T>C	12.37:g.21962829A>G		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	35	14	NM_005691	0	0	1	1	0	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																			.		0.323	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		G	21962829	A	G	21962829	2	3	27	1	0	0	0	0	0	0	0	1	59	126	5	4		4	ABCC9	12	21962829	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	15620208	21962829	111889066	208	4768											
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	26493203	26493203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcattttgctcactgtcgCcttcattgctaacgagggac	8	11	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:26493203C>T	ENST00000381340.3	-	56	8332	c.7916G>A	c.(7915-7917)gGc>gAc	p.G2639D	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2639					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)	CTCACTGTCGCCTTCATTGCT	0.488																																					p.G2639D		.											.	ITPR2-542	0			c.G7916A						.						67	66	67					12																	26493203		1979	4203	6182	SO:0001583	missense	3709	exon56			CTGTCGCCTTCAT	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.7916G>A	12.37:g.26493203C>T	ENSP00000370744:p.Gly2639Asp	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	145	56	NM_002223	0	0	10	22	12	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503922	0.64410	.	.	ENSG00000123104	ENST00000381340	T	0.39997	1.05	5.58	5.58	0.84498	.	0.191717	0.45126	D	0.000385	T	0.48114	0.1482	L	0.36672	1.1	0.80722	D	1	P	0.46277	0.875	P	0.56823	0.807	T	0.12708	-1.0537	10	0.16896	T	0.51	.	15.4488	0.75257	0.0:0.8619:0.1381:0.0	.	2639	Q14571	ITPR2_HUMAN	D	2639	ENSP00000370744:G2639D	ENSP00000370744:G2639D	G	-	2	0	ITPR2	26384470	0.993000	0.37304	0.638000	0.29380	0.901000	0.52897	3.095000	0.50235	2.793000	0.96121	0.655000	0.94253	GGC	.		0.488	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26493203	C	T	26493203	3	4	27	1	0	0	0	0	1	0	0	0	7948	739	26	3	197	3	ITPR2	12	26493203	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4530374	26493203	107358692	209	4769											
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	26784944	26784944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctctactgagtaccatcTgggtcatcatctctcccacc	6	16	5	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:26784944T>C	ENST00000381340.3	-	22	3205	c.2789A>G	c.(2788-2790)cAg>cGg	p.Q930R	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	930					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)	GAGTACCATCTGGGTCATCAT	0.547																																					p.Q930R		.											.	ITPR2-542	0			c.A2789G						.						124	128	126					12																	26784944		2069	4212	6281	SO:0001583	missense	3709	exon22			ACCATCTGGGTCA	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.2789A>G	12.37:g.26784944T>C	ENSP00000370744:p.Gln930Arg	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	141	58	NM_002223	0	0	0	0	0	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075253	0.55646	.	.	ENSG00000123104	ENST00000381340	D	0.91351	-2.83	5.07	5.07	0.68467	.	0.185393	0.49916	N	0.000135	D	0.86990	0.6066	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.83267	-0.0045	10	0.40728	T	0.16	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	930	Q14571	ITPR2_HUMAN	R	930	ENSP00000370744:Q930R	ENSP00000370744:Q930R	Q	-	2	0	ITPR2	26676211	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.314000	0.78988	2.139000	0.66308	0.533000	0.62120	CAG	.		0.547	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26784944	T	C	26784944	3	2	27	1	0	0	0	0	1	0	0	0	7948	1580	55	4	5460	4	ITPR2	12	26784944	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	291741	26784944	107066951	210	4770											
PLEKHA9	51054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	45567092	45567092	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctttacggttaacgCggccacaaaatcttcatagg	7	12	2	0	rs145353585	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:45567092C>T	ENST00000256692.5	-	0	1593					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGGTTAACGCGGCCACAAAA	0.502																																					.		.											.	PLEKHA8P1-226	0			.						.	C		1,4405	2.1+/-5.4	0,1,2202	103	97	99			-0.7	0	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154			45567092	2,13004	2203	4300	6503			51054	.			TTAACGCGGCCAC	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567092C>T		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	282	116	.	0	0	2	2	0		RNA	SNP	ENST00000256692.5	37																																																																																				C|1.000;T|0.000		0.502	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		T	45567092	C	T	45567092	1	4	27	0	1	0	0	0	0	0	0	0	12102	768	27	1		1	PLEKHA9	12	45567092	RNA	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	18782148	45567092	88284803	211	4771											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49420173	49420173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagccatctggtgaggCagcagctgtccgatggcgtg	15	10	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:49420173C>T	ENST00000301067.7	-	48	15575	c.15576G>A	c.(15574-15576)ctG>ctA	p.L5192L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5192	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				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)										TCTGGTGAGGCAGCAGCTGTC	0.597																																					p.L5192L		.											.	MLL2-612	0			c.G15576A						.						39	41	40					12																	49420173		2139	4229	6368	SO:0001819	synonymous_variant	8085	exon48			GTGAGGCAGCAGC	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.15576G>A	12.37:g.49420173C>T		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	183	86	NM_003482	0	0	18	30	12	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49420173	C	T	49420173	2	4	27	1	0	0	0	0	0	0	0	1	9659	697	25	3		3	MLL2	12	49420173	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3853081	49420173	84431722	212	4772											
DHH	50846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49483720	49483720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggctggacggccccgccGgggagcagcgcccctagcgc	17	17	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:49483720G>A	ENST00000266991.2	-	3	1419	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	371					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						CGGCCCCGCCGGGGAGCAGCG	0.652																																					p.P371P		.											.	DHH-710	0			c.C1113T						.						9	11	11					12																	49483720		2196	4286	6482	SO:0001819	synonymous_variant	50846	exon3			CCCGCCGGGGAGC	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.1113C>T	12.37:g.49483720G>A		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	140	65	NM_021044	0	0	9	16	7	Q15794	Silent	SNP	ENST00000266991.2	37	CCDS8779.1																																																																																			.		0.652	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		A	49483720	G	A	49483720	2	1	27	1	0	0	0	0	0	0	0	1	4497	1103	39	1		1	DHH	12	49483720	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	63547	49483720	84368175	213	4773											
DHH	50846	bcgsc.ca	37	chr12	49483989	49483989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcaaagtcgcctggcgCgggcgccggccctcgagcgg	18	15	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:49483989C>T	ENST00000266991.2	-	3	1150	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	282					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						TCGCCTGGCGCGGGCGCCGGC	0.731																																					p.A282T		.											.	DHH-710	0			c.G844A						.						4	5	5					12																	49483989		2006	3933	5939	SO:0001583	missense	50846	exon3			CTGGCGCGGGCGC	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.844G>A	12.37:g.49483989C>T	ENSP00000266991:p.Ala282Thr	Somatic	49	2		WXS	Illumina GAIIx	Phase_I	121	67	NM_021044	0	0	3	3	0	Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	c	2.031	-0.422429	0.04734	.	.	ENSG00000139549	ENST00000266991	D	0.99264	-5.65	4.77	3.88	0.44766	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.407810	0.26987	N	0.021493	D	0.96109	0.8732	N	0.20483	0.58	0.09310	N	1	B	0.21225	0.053	B	0.17722	0.019	D	0.89849	0.4008	10	0.15066	T	0.55	-10.0559	8.7076	0.34365	0.154:0.7618:0.0:0.0842	.	282	O43323	DHH_HUMAN	T	282	ENSP00000266991:A282T	ENSP00000266991:A282T	A	-	1	0	DHH	47770256	0.090000	0.21635	0.006000	0.13384	0.336000	0.28762	1.082000	0.30803	0.745000	0.32763	-1.447000	0.01057	GCG	.		0.731	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		T	49483989	C	T	49483989	3	4	27	1	0	0	0	0	1	0	0	0	4497	768	27	1	350	1	DHH	12	49483989	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	269	49483989	84367906	214	4774											
KRT7	3855	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	52627326	52627326	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggctggacgccgacccCtccctccagcgggtgcgcca	13	19	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:52627326C>A	ENST00000331817.5	+	1	429	c.246C>A	c.(244-246)ccC>ccA	p.P82P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	82	Head.				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)	ACGCCGACCCCTCCCTCCAGC	0.677																																					p.P82P		.											.	KRT7-90	0			c.C246A						.						33	36	35					12																	52627326		2200	4296	6496	SO:0001819	synonymous_variant	3855	exon1			CGACCCCTCCCTC		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.246C>A	12.37:g.52627326C>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	142	60	NM_005556	0	0	0	0	0	Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	CCDS8822.1																																																																																			.		0.677	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		A	52627326	C	A	52627326	2	1	27	1	0	0	0	0	0	0	0	1	8510	668	24	3		3	KRT7	12	52627326	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3143337	52627326	81224569	215	4775											
KRT77	374454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53088535	53088535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtccatggacaggatgaCgttggtgtcgctgatgtgag	15	6	0	3	rs375236986		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:53088535C>T	ENST00000341809.3	-	5	983	c.955G>A	c.(955-957)Gtc>Atc	p.V319I	KRT77_ENST00000537195.1_Missense_Mutation_p.V86I|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	319	Linker 12.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GACAGGATGACGTTGGTGTCG	0.562																																					p.V319I		.											.	KRT77-187	0			c.G955A						.	C	ILE/VAL	0,4406		0,0,2203	153	114	127		955	4.1	1	12		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT77	NM_175078.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	319/579	53088535	1,13005	2203	4300	6503	SO:0001583	missense	374454	exon5			GGATGACGTTGGT	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.955G>A	12.37:g.53088535C>T	ENSP00000342710:p.Val319Ile	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	151	76	NM_175078	0	0	0	0	0	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979962	0.74360	0.0	1.16E-4	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.89746	-1.6;-2.56	4.94	4.05	0.47172	Filament (1);	.	.	.	.	D	0.93393	0.7893	M	0.78916	2.43	0.28331	N	0.921787	D	0.89917	1.0	D	0.72625	0.978	D	0.87179	0.2226	9	0.59425	D	0.04	.	10.3571	0.43972	0.0:0.838:0.0:0.162	.	319	Q7Z794	K2C1B_HUMAN	I	319;86	ENSP00000342710:V319I;ENSP00000440803:V86I	ENSP00000342710:V319I	V	-	1	0	KRT77	51374802	0.999000	0.42202	0.978000	0.43139	0.858000	0.48976	4.041000	0.57339	1.221000	0.43506	0.555000	0.69702	GTC	.		0.562	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		T	53088535	C	T	53088535	3	4	27	1	0	0	0	0	1	0	0	0	8517	536	19	1	801	1	KRT77	12	53088535	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	461209	53088535	80763360	216	4776											
ESYT1	23344	broad.mit.edu	37	chr12	56536719	56536719	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattgttcatggttgccggTgagaccccatccctcctgtc	10	14	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:56536719T>C	ENST00000394048.5	+	27	3251		c.e27+2		ESYT1_ENST00000541590.1_Splice_Site|ESYT1_ENST00000267113.4_Splice_Site	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1						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						TGGTTGCCGGTGAGACCCCAT	0.557																																					.		.											.	ESYT1-95	0			c.2987+2T>C						.						116	110	112					12																	56536719		2203	4300	6503	SO:0001630	splice_region_variant	23344	exon27			TGCCGGTGAGACC	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.2987+2T>C	12.37:g.56536719T>C		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_015292	0	0	0	0	0	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Splice_Site	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852146	0.71719	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8033	0.52139	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESYT1	54822986	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.731000	0.68554	2.107000	0.64212	0.459000	0.35465	.	.		0.557	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	Intron	C	56536719	T	C	56536719	5	2	27	1	0	0	0	0	0	0	1	0	5280	1710	59	4	3125	4	ESYT1	12	56536719	Splice_Site	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	3448184	56536719	77315176	217	4777											
GPR182	11318	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57389484	57389484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccccctcctggcagcGttaccagcaccgagtgcggc	11	19	0	0	rs145408449	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:57389484G>A	ENST00000300098.1	+	2	710	c.491G>A	c.(490-492)cGt>cAt	p.R164H	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	164					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TCCTGGCAGCGTTACCAGCAC	0.607																																					p.R164H		.											.	GPR182-500	0			c.G491A						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	84	89		491	-0.8	0.1	12	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GPR182	NM_007264.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	164/405	57389484	2,13004	2203	4300	6503	SO:0001583	missense	11318	exon2			GGCAGCGTTACCA	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.491G>A	12.37:g.57389484G>A	ENSP00000300098:p.Arg164His	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	177	14	NM_007264	0	0	0	0	0		Missense_Mutation	SNP	ENST00000300098.1	37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	0.883	-0.728067	0.03135	2.27E-4	1.16E-4	ENSG00000166856	ENST00000300098	T	0.73152	-0.72	4.44	-0.751	0.11076	GPCR, rhodopsin-like superfamily (1);	0.351640	0.30210	N	0.010141	T	0.50701	0.1631	L	0.28192	0.835	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32981	-0.9886	10	0.48119	T	0.1	.	6.5885	0.22634	0.3871:0.1206:0.4923:0.0	.	164	O15218	GP182_HUMAN	H	164	ENSP00000300098:R164H	ENSP00000300098:R164H	R	+	2	0	GPR182	55675751	0.197000	0.23362	0.084000	0.20598	0.004000	0.04260	0.312000	0.19397	-0.541000	0.06257	-2.069000	0.00389	CGT	G|1.000;A|0.000		0.607	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		A	57389484	G	A	57389484	3	1	27	1	0	0	0	0	1	0	0	0	6703	1145	40	1	493	1	GPR182	12	57389484	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	852765	57389484	76462411	218	4778											
LRP1	4035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57581075	57581075	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgtggaaggcctggcCtatcaccgtggctgggacac	15	13	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:57581075C>A	ENST00000243077.3	+	42	7333	c.6867C>A	c.(6865-6867)gcC>gcA	p.A2289A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2289					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)	AAGGCCTGGCCTATCACCGTG	0.642																																					p.A2289A		.											.	LRP1-596	0			c.C6867A						.						79	73	75					12																	57581075		2203	4300	6503	SO:0001819	synonymous_variant	4035	exon42			CCTGGCCTATCAC	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.6867C>A	12.37:g.57581075C>A		Somatic	209	1		WXS	Illumina GAIIx	Phase_I	269	118	NM_002332	0	0	0	0	0	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																			.		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57581075	C	A	57581075	2	1	27	1	0	0	0	0	0	0	0	1	8986	668	24	3		3	LRP1	12	57581075	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	191591	57581075	76270820	219	4779											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57584685	57584685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttatcgagaaggacatcCgtacccccaatggcctggcc	9	16	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:57584685C>T	ENST00000243077.3	+	43	7595	c.7129C>T	c.(7129-7131)Cgt>Tgt	p.R2377C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2377					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)	GAAGGACATCCGTACCCCCAA	0.602																																					p.R2377C		.											.	LRP1-596	0			c.C7129T						.						104	81	89					12																	57584685		2203	4300	6503	SO:0001583	missense	4035	exon43			GACATCCGTACCC	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.7129C>T	12.37:g.57584685C>T	ENSP00000243077:p.Arg2377Cys	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	178	28	NM_002332	0	0	1	1	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279403	0.59758	.	.	ENSG00000123384	ENST00000243077	D	0.96200	-3.94	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.085942	0.47093	D	0.000257	D	0.95118	0.8418	M	0.80332	2.49	0.80722	D	1	P	0.40083	0.702	B	0.38985	0.287	D	0.94704	0.7886	10	0.35671	T	0.21	.	17.1417	0.86755	0.0:1.0:0.0:0.0	.	2377	Q07954	LRP1_HUMAN	C	2377	ENSP00000243077:R2377C	ENSP00000243077:R2377C	R	+	1	0	LRP1	55870952	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	2.944000	0.49034	2.563000	0.86464	0.542000	0.68232	CGT	.		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57584685	C	T	57584685	3	4	27	1	0	0	0	0	1	0	0	0	8986	652	23	1	7299	1	LRP1	12	57584685	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3610	57584685	76267210	220	4780											
KIF5A	3798	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57965871	57965871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccacccgaggagacaacGagaaggtccagcgggagctg	15	11	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:57965871G>A	ENST00000455537.2	+	14	1664	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E375K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	464					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						AGGAGACAACGAGAAGGTCCA	0.577																																					p.E464K		.											.	KIF5A-517	0			c.G1390A						.						68	61	63					12																	57965871		2202	4300	6502	SO:0001583	missense	3798	exon14			GACAACGAGAAGG	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.1390G>A	12.37:g.57965871G>A	ENSP00000408979:p.Glu464Lys	Somatic	172	1		WXS	Illumina GAIIx	Phase_I	229	109	NM_004984	0	0	0	0	0	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051538	0.93793	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.81163	-1.46;-1.46	4.93	4.93	0.64822	.	0.055440	0.64402	D	0.000001	D	0.82618	0.5076	M	0.71036	2.16	0.58432	D	0.999999	P;D	0.55172	0.838;0.97	B;P	0.46253	0.356;0.509	D	0.84072	0.0380	10	0.46703	T	0.11	.	17.4472	0.87581	0.0:0.0:1.0:0.0	.	375;464	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	464;375	ENSP00000408979:E464K;ENSP00000286452:E375K	ENSP00000286452:E375K	E	+	1	0	KIF5A	56252138	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	9.657000	0.98554	2.749000	0.94314	0.655000	0.94253	GAG	.		0.577	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57965871	G	A	57965871	3	1	27	1	0	0	0	0	1	0	0	0	8332	1059	37	1	1444	1	KIF5A	12	57965871	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	381186	57965871	75886024	221	4781											
MON2	23041	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	62940761	62940761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaagcagttagaatgcGtgttgcagattctgcagagt	12	7	2	3	rs201327821		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:62940761G>A	ENST00000393632.2	+	22	3053	c.2662G>A	c.(2662-2664)Gtg>Atg	p.V888M	MON2_ENST00000393629.2_Missense_Mutation_p.V888M|MON2_ENST00000280379.6_Missense_Mutation_p.V889M|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000393630.3_Missense_Mutation_p.V889M|MON2_ENST00000552738.1_Missense_Mutation_p.V865M|MON2_ENST00000546600.1_Missense_Mutation_p.V888M|MON2_ENST00000552115.1_Missense_Mutation_p.V888M	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	888					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V888M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTTAGAATGCGTGTTGCAGAT	0.453													G|||	1	0.000199681	0	0	5008	,	,		13117	0		0.001	False		,,,				2504	0				p.V888M		.											.	MON2-514	1	Substitution - Missense(1)	endometrium(1)	c.G2662A						.						103	95	98					12																	62940761		2203	4300	6503	SO:0001583	missense	23041	exon22			GAATGCGTGTTGC		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2662G>A	12.37:g.62940761G>A	ENSP00000377252:p.Val888Met	Somatic	157	1		WXS	Illumina GAIIx	Phase_I	202	91	NM_015026	0	0	4	10	6	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275325	0.80580	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;1.43	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.52126	1.63	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.99;0.997	D;P;P;P	0.65323	0.934;0.861;0.846;0.803	T	0.72087	-0.4396	9	.	.	.	-11.4167	18.8374	0.92168	0.0:0.0:1.0:0.0	.	888;865;888;888	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	M	888;889;889;888;865;888;888	ENSP00000377252:V888M;ENSP00000377250:V889M;ENSP00000280379:V889M;ENSP00000447407:V888M;ENSP00000449215:V865M;ENSP00000377249:V888M;ENSP00000446635:V888M	.	V	+	1	0	MON2	61227028	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.058000	0.89460	2.447000	0.82792	0.591000	0.81541	GTG	G|0.999;A|0.001		0.453	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62940761	G	A	62940761	3	1	27	1	0	0	0	0	1	0	0	0	9738	1145	40	1	2748	1	MON2	12	62940761	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4974890	62940761	70911134	222	4782											
MDM2	4193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	69210628	69210628	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtatattatgactaaaCgattatatgatgagaagcaa	8	5	0	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:69210628C>T	ENST00000350057.5	+	2	118	c.118C>T	c.(118-120)Cga>Tga	p.R40*	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Nonsense_Mutation_p.R65*|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Nonsense_Mutation_p.R71*|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Nonsense_Mutation_p.R71*|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	65	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)			TATGACTAAACGATTATATGA	0.308			A		"sarcoma, glioma, colorectal, other"																																p.R71X		.		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	.	MDM2-1270	0			c.C211T						.						88	80	83					12																	69210628		1805	4075	5880	SO:0001587	stop_gained	4193	exon4			ACTAAACGATTAT		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.118C>T	12.37:g.69210628C>T	ENSP00000266624:p.Arg40*	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	77	26	NM_002392	0	0	1	3	2	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Nonsense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	C	15.63	2.890503	0.52014	.	.	ENSG00000135679	ENST00000462284;ENST00000258149;ENST00000311440;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	.	.	.	5.22	3.26	0.37387	.	0.121099	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9368	9.0821	0.36558	0.1775:0.7423:0.0:0.0802	.	.	.	.	X	71;65;65;71;65;65;96;40	.	.	R	+	1	2	MDM2	67496895	1.000000	0.71417	0.939000	0.37840	0.290000	0.27261	1.241000	0.32743	0.712000	0.32039	0.563000	0.77884	CGA	.		0.308	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		T	69210628	C	T	69210628	4	4	27	1	0	0	0	0	0	1	0	0	9451	528	19	1	225	1	MDM2	12	69210628	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6269867	69210628	64641267	223	4783											
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	78515967	78515967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactcgttggcctccagcCcagcatcggttcactctttc	8	16	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:78515967C>T	ENST00000397909.2	+	16	4170	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.P1333S|NAV3_ENST00000536525.2_Missense_Mutation_p.P1333S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1333	Ser-rich.					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						GGCCTCCAGCCCAGCATCGGT	0.527										HNSCC(70;0.22)																											p.P1333S		.											.	NAV3-279	0			c.C3997T						.						81	82	81					12																	78515967		2022	4179	6201	SO:0001583	missense	89795	exon16			TCCAGCCCAGCAT	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.3997C>T	12.37:g.78515967C>T	ENSP00000381007:p.Pro1333Ser	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	263	45	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078411	0.76528	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.60548	0.18;0.22;0.19	5.96	5.96	0.96718	.	0.000000	0.39985	U	0.001208	T	0.77883	0.4197	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.998	T	0.76796	-0.2827	10	0.52906	T	0.07	-16.5392	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1333;1333;1333	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	S	1333	ENSP00000446132:P1333S;ENSP00000381007:P1333S;ENSP00000228327:P1333S	ENSP00000228327:P1333S	P	+	1	0	NAV3	77040098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.590000	0.82653	2.814000	0.96858	0.655000	0.94253	CCA	.		0.527	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78515967	C	T	78515967	3	4	27	1	0	0	0	0	1	0	0	0	10223	623	22	3	4059	3	NAV3	12	78515967	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9305339	78515967	55335928	224	4784											
MGAT4C	25834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	86377312	86377312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacttacgctttctttgtAaaggtgtggcagctaggtag	12	6	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:86377312A>G	ENST00000604798.1	-	7	1488	c.284T>C	c.(283-285)tTa>tCa	p.L95S	MGAT4C_ENST00000393205.2_Missense_Mutation_p.L124S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L95S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L95S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L95S|MGAT4C_ENST00000552435.2_Missense_Mutation_p.L95S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L95S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	95					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						CTTTCTTTGTAAAGGTGTGGC	0.308																																					p.L95S		.											.	MGAT4C-93	0			c.T284C						.						110	115	113					12																	86377312		2203	4300	6503	SO:0001583	missense	25834	exon6			CTTTGTAAAGGTG		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.284T>C	12.37:g.86377312A>G	ENSP00000474896:p.Leu95Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	105	60	NM_013244	0	0	0	0	0	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788663	0.49997	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.39	5.39	0.77823	.	0.121525	0.36101	N	0.002782	T	0.35537	0.0935	L	0.49126	1.545	0.44985	D	0.998001	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.006	T	0.22452	-1.0216	10	0.06494	T	0.89	-22.6821	15.4047	0.74868	1.0:0.0:0.0:0.0	.	124;95	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	95;124;95;95;95;95;95;95	ENSP00000331664:L95S;ENSP00000376900:L124S;ENSP00000449022:L95S;ENSP00000446647:L95S;ENSP00000447253:L95S;ENSP00000449172:L95S	ENSP00000331664:L95S	L	-	2	0	MGAT4C	84901443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.051000	0.60960	0.460000	0.39030	TTA	.		0.308	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		G	86377312	A	G	86377312	3	3	27	1	0	0	0	0	1	0	0	0	9585	372	13	4	1160	4	MGAT4C	12	86377312	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	7861345	86377312	47474583	225	4785											
CEP290	80184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	88479859	88479859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgtgtttctagaattattCgaatgttctccttaattttc	5	9	2	1	rs576877716		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:88479859C>T	ENST00000552810.1	-	34	4737	c.4394G>A	c.(4393-4395)cGa>cAa	p.R1465Q	CEP290_ENST00000309041.7_Missense_Mutation_p.R1467Q|CEP290_ENST00000547691.2_Missense_Mutation_p.R525Q|CEP290_ENST00000397838.3_Missense_Mutation_p.R525Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1465					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)		p.R1467Q(1)		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						TAGAATTATTCGAATGTTCTC	0.373													C|||	1	0.000199681	0	0	5008	,	,		14670	0		0	False		,,,				2504	0.001				p.R1465Q		.											.	CEP290-96	1	Substitution - Missense(1)	large_intestine(1)	c.G4394A						.						154	129	137					12																	88479859		1809	4062	5871	SO:0001583	missense	80184	exon34			ATTATTCGAATGT	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.4394G>A	12.37:g.88479859C>T	ENSP00000448012:p.Arg1465Gln	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	107	47	NM_025114	0	0	1	2	1	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252652	0.39797	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.64260	0.41;-0.09;-0.09;0.41	5.78	4.89	0.63831	.	0.192474	0.47093	N	0.000258	T	0.45296	0.1335	L	0.35854	1.095	0.29182	N	0.876426	B	0.27166	0.17	B	0.16289	0.015	T	0.34079	-0.9843	10	0.11485	T	0.65	.	9.4503	0.38723	0.0:0.777:0.0:0.223	.	1465	O15078	CE290_HUMAN	Q	525;1465;1467;525	ENSP00000446905:R525Q;ENSP00000448012:R1465Q;ENSP00000308021:R1467Q;ENSP00000380938:R525Q	ENSP00000308021:R1467Q	R	-	2	0	CEP290	87003990	0.998000	0.40836	0.999000	0.59377	0.411000	0.31082	0.886000	0.28241	1.422000	0.47177	0.557000	0.71058	CGA	.		0.373	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		T	88479859	C	T	88479859	3	4	27	1	0	0	0	0	1	0	0	0	3260	884	31	1	3129	1	CEP290	12	88479859	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2102547	88479859	45372036	226	4786											
C12orf42	374470	broad.mit.edu	37	chr12	103699896	103699896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttccaaaaatgaactgtTccaagcctgcttgggtgctc	9	10	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:103699896T>C	ENST00000378113.2	-	5	712	c.487A>G	c.(487-489)Aac>Gac	p.N163D	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.N96D|C12orf42_ENST00000548883.1_Missense_Mutation_p.N163D|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	163										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATGAACTGTTCCAAGCCTGC	0.493																																					p.N163D		.											.	C12orf42-91	0			c.A487G						.						75	77	77					12																	103699896		1906	4120	6026	SO:0001583	missense	374470	exon5			AACTGTTCCAAGC	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.487A>G	12.37:g.103699896T>C	ENSP00000367353:p.Asn163Asp	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	103	4	NM_001099336	0	0	0	0	0	Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361071	0.24684	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.98	2.76	0.32466	.	1.102310	0.07096	N	0.839648	T	0.27063	0.0663	N	0.19112	0.55	0.09310	N	0.999994	B	0.33103	0.397	B	0.33960	0.173	T	0.25257	-1.0137	10	0.21014	T	0.42	-0.0034	5.9902	0.19456	0.0:0.1266:0.0:0.8734	.	163	Q96LP6	CL042_HUMAN	D	163;96;163;163	ENSP00000447908:N163D;ENSP00000449362:N96D;ENSP00000367353:N163D;ENSP00000447795:N163D	ENSP00000367353:N163D	N	-	1	0	C12orf42	102224026	0.318000	0.24598	0.707000	0.30419	0.015000	0.08874	0.797000	0.26999	0.820000	0.34516	0.449000	0.29647	AAC	.		0.493	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		C	103699896	T	C	103699896	3	2	27	1	0	0	0	0	1	0	0	0	1693	1783	62	4	603	4	C12orf42	12	103699896	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	15220037	103699896	30151999	227	4787											
ALDH1L2	160428	ucsc.edu;bcgsc.ca	37	chr12	105464485	105464485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttagctctgcacccacGgatctgtaggcttctgccac	8	14	3	0	rs74449999	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:105464485G>A	ENST00000258494.9	-	3	431	c.291C>T	c.(289-291)tcC>tcT	p.S97S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Silent_p.S97S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	97	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGCACCCACGGATCTGTAGG	0.483													G|||	59	0.0117812	0.003	0.0144	5008	,	,		17150	0.001		0.0408	False		,,,				2504	0.0031				p.S97S		.											.	ALDH1L2-91	0			c.C291T						.	G		39,4367	44.6+/-78.6	0,39,2164	184	148	160		291	-10.5	0.2	12	dbSNP_132	160	322,8278	114.0+/-174.0	8,306,3986	no	coding-synonymous	ALDH1L2	NM_001034173.3		8,345,6150	AA,AG,GG		3.7442,0.8852,2.7756		97/924	105464485	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	160428	exon3			ACCCACGGATCTG	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.291C>T	12.37:g.105464485G>A		Somatic	168	2		WXS	Illumina GAIIx	Phase_I	235	117	NM_001034173	0	0	0	0	0	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																			G|0.976;A|0.024		0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		A	105464485	G	A	105464485	2	1	27	1	0	0	0	0	0	0	0	1	495	1103	39	1		1	ALDH1L2	12	105464485	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1764589	105464485	28387410	228	4788											
PRDM4	11108	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	108145670	108145670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctcgcctgcaacaccGtccatcgtaagctcctctgc	8	16	1	0	rs146564582	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:108145670G>A	ENST00000228437.5	-	5	1107	c.648C>T	c.(646-648)gaC>gaT	p.D216D	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	216					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						CTGCAACACCGTCCATCGTAA	0.517													G|||	47	0.00938498	0.031	0.0086	5008	,	,		23703	0		0	False		,,,				2504	0				p.D216D		.											.	PRDM4-154	0			c.C648T						.	G		112,4294	85.3+/-124.0	0,112,2091	144	125	132		648	-11.9	0.4	12	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	PRDM4	NM_012406.3		0,112,6391	AA,AG,GG		0.0,2.542,0.8611		216/802	108145670	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	11108	exon5			AACACCGTCCATC	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.648C>T	12.37:g.108145670G>A		Somatic	115	1		WXS	Illumina GAIIx	Phase_I	157	63	NM_012406	0	0	17	33	16	Q9UFA6	Silent	SNP	ENST00000228437.5	37	CCDS9115.1																																																																																			G|0.993;A|0.007		0.517	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		A	108145670	G	A	108145670	2	1	27	1	0	0	0	0	0	0	0	1	12501	1136	40	1		1	PRDM4	12	108145670	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2681185	108145670	25706225	229	4789											
RNFT2	84900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	117273985	117273985	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcttctcccctccctcaaaGaactatggagtccgagccac	7	16	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:117273985G>C	ENST00000257575.4	+	10	1331		c.e10-1		RNFT2_ENST00000407967.3_Splice_Site|RNFT2_ENST00000392549.2_Splice_Site|RNFT2_ENST00000551251.1_Splice_Site|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CTCCCTCAAAGAACTATGGAG	0.597																																					.		.											.	.	0			c.1099-1G>C						.						35	29	31					12																	117273985		2203	4300	6503	SO:0001630	splice_region_variant	84900	exon10			CTCAAAGAACTAT	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1099-1G>C	12.37:g.117273985G>C		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	107	45	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Splice_Site	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242882	0.79912	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3302	0.94283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNFT2	115758368	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.404000	0.97306	2.572000	0.86782	0.591000	0.81541	.	.		0.597	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	Intron	C	117273985	G	C	117273985	5	2	27	1	0	0	0	0	0	0	1	0	13547	956	33	3	1132	3	RNFT2	12	117273985	Splice_Site	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9128315	117273985	16577910	230	4790											
FBXW8	26259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	117465865	117465865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgcgcctatgagtttgCggtggaccagctggccttcc	13	13	0	1	rs536148392		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:117465865C>T	ENST00000309909.5	+	11	1767	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	FBXW8_ENST00000455858.2_Missense_Mutation_p.A496V			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	562					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TATGAGTTTGCGGTGGACCAG	0.612																																					p.A562V		.											.	FBXW8-229	0			c.C1685T						.						110	82	91					12																	117465865		2203	4300	6503	SO:0001583	missense	26259	exon11			AGTTTGCGGTGGA	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1685C>T	12.37:g.117465865C>T	ENSP00000310686:p.Ala562Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	115	53	NM_153348	0	0	0	0	0	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789550	0.70337	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08370	3.1;3.11	4.93	4.93	0.64822	.	0.119114	0.64402	D	0.000014	T	0.09468	0.0233	L	0.57536	1.79	0.42356	D	0.992395	P;P	0.45044	0.745;0.849	B;B	0.32928	0.155;0.118	T	0.13926	-1.0491	10	0.44086	T	0.13	-12.9131	15.9314	0.79663	0.0:1.0:0.0:0.0	.	562;496	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	V	562;496;496	ENSP00000310686:A562V;ENSP00000389144:A496V	ENSP00000310686:A562V	A	+	2	0	FBXW8	115950248	0.998000	0.40836	0.806000	0.32338	0.661000	0.39034	5.149000	0.64863	2.271000	0.75665	0.591000	0.81541	GCG	.		0.612	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		T	117465865	C	T	117465865	3	4	27	1	0	0	0	0	1	0	0	0	5792	768	27	1	1727	1	FBXW8	12	117465865	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	191880	117465865	16386030	231	4791											
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	120613993	120613993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catactggctgaggtcaagcGtcactgatgccagcagacta	11	11	2	3	rs374086266		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:120613993G>A	ENST00000300648.6	-	10	878	c.866C>T	c.(865-867)aCg>aTg	p.T289M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	289					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)					GAGGTCAAGCGTCACTGATGC	0.488																																					p.T289M		.											.	GCN1L1-94	0			c.C866T						.						99	100	100					12																	120613993		2045	4204	6249	SO:0001583	missense	10985	exon10			TCAAGCGTCACTG	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.866C>T	12.37:g.120613993G>A	ENSP00000300648:p.Thr289Met	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	154	23	NM_006836	0	0	7	8	1	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360046	0.61403	.	.	ENSG00000089154	ENST00000300648	T	0.04862	3.54	5.71	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);	0.151105	0.64402	D	0.000017	T	0.07503	0.0189	L	0.40543	1.245	0.47994	D	0.999563	D	0.54772	0.968	B	0.42062	0.374	T	0.08106	-1.0738	10	0.66056	D	0.02	-0.3364	13.816	0.63292	0.0:0.0:0.7365:0.2635	.	289	Q92616	GCN1L_HUMAN	M	289	ENSP00000300648:T289M	ENSP00000300648:T289M	T	-	2	0	GCN1L1	119098376	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.847000	0.62867	2.695000	0.91970	0.563000	0.77884	ACG	.		0.488	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120613993	G	A	120613993	3	1	27	1	0	0	0	0	1	0	0	0	6324	1145	40	1	7345	1	GCN1L1	12	120613993	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3148128	120613993	13237902	232	4792											
RHOF	54509	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	122217484	122217484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaccttggcggcctcccGgaagacgtcctccacattct	9	17	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:122217484G>A	ENST00000267205.2	-	5	1184	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR|RHOF_ENST00000537265.1_Missense_Mutation_p.R86W	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	186					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCGGCCTCCCGGAAGACGTCC	0.637																																					p.R186W		.											.	RHOF-660	0			c.C556T						.						62	64	63					12																	122217484		2203	4300	6503	SO:0001583	missense	54509	exon5			CCTCCCGGAAGAC	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.556C>T	12.37:g.122217484G>A	ENSP00000267205:p.Arg186Trp	Somatic	136	2		WXS	Illumina GAIIx	Phase_I	170	86	NM_019034	0	0	26	48	22	Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153379	0.57259	.	.	ENSG00000139725	ENST00000267205	T	0.70399	-0.48	4.88	3.96	0.45880	.	0.120997	0.52532	D	0.000063	T	0.80889	0.4710	M	0.67397	2.05	0.48452	D	0.999653	D	0.89917	1.0	D	0.75484	0.986	T	0.81771	-0.0780	10	0.87932	D	0	.	11.1875	0.48666	0.0:0.0:0.6666:0.3334	.	186	Q9HBH0	RHOF_HUMAN	W	186	ENSP00000267205:R186W	ENSP00000267205:R186W	R	-	1	2	RHOF	120701867	0.439000	0.25610	0.985000	0.45067	0.297000	0.27493	0.692000	0.25482	0.978000	0.38470	0.655000	0.94253	CGG	.		0.637	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			A	122217484	G	A	122217484	3	1	27	1	0	0	0	0	1	0	0	0	13383	1115	39	1	83	1	RHOF	12	122217484	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1603491	122217484	11634411	233	4793											
VPS37B	79720	broad.mit.edu;bcgsc.ca	37	chr12	123351799	123351799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcgggggggcaggggcGggcactgtaatcctgggtac	19	11	0	0	rs370211610		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr12:123351799G>A	ENST00000267202.2	-	4	1103	c.722C>T	c.(721-723)cCg>cTg	p.P241L	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	241	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGCAGGGGCGGGCACTGTAA	0.697																																					p.P241L		.											.	VPS37B-90	0			c.C722T						.	G	LEU/PRO	1,4327		0,1,2163	14	16	15		722	4.5	0.8	12		15	0,8450		0,0,4225	no	missense	VPS37B	NM_024667.2	98	0,1,6388	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	241/286	123351799	1,12777	2164	4225	6389	SO:0001583	missense	79720	exon4			AGGGGCGGGCACT	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.722C>T	12.37:g.123351799G>A	ENSP00000267202:p.Pro241Leu	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	73	45	NM_024667	0	0	3	21	18		Missense_Mutation	SNP	ENST00000267202.2	37	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377866	0.61735	2.31E-4	0.0	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.61627	0.09;0.22	5.36	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.74881	2.28	0.80722	D	1	B	0.34255	0.445	B	0.25291	0.059	T	0.61397	-0.7071	10	0.72032	D	0.01	-20.8234	14.0046	0.64456	0.0729:0.0:0.9271:0.0	.	241	Q9H9H4	VP37B_HUMAN	L	241;239	ENSP00000267202:P241L;ENSP00000446075:P239L	ENSP00000267202:P241L	P	-	2	0	VPS37B	121917752	1.000000	0.71417	0.801000	0.32222	0.045000	0.14185	5.331000	0.65905	1.263000	0.44181	-0.136000	0.14681	CCG	.		0.697	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		A	123351799	G	A	123351799	3	1	27	1	0	0	0	0	1	0	0	0	17255	1116	39	1	139	1	VPS37B	12	123351799	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1134315	123351799	10500096	234	4794											
RNF17	56163	bcgsc.ca	37	chr13	25367282	25367282	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccaccgctagaaaagaaAaaggttgacatgtctgtcct	8	10	1	3	rs1451568	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr13:25367282A>C	ENST00000255324.5	+	10	1090	c.1038A>C	c.(1036-1038)aaA>aaC	p.K346N	RNF17_ENST00000381921.1_Missense_Mutation_p.K346N|RNF17_ENST00000255325.6_Missense_Mutation_p.K346N|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	346			K -> N (in dbSNP:rs1451568).		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGAAAAGAAAAAGGTTGACA	0.373													A|||	788	0.157348	0.3411	0.1225	5008	,	,		20747	0.001		0.163	False		,,,				2504	0.089				p.K346N		.											.	RNF17-228	0			c.A1038C						.	A	ASN/LYS,ASN/LYS	1432,2974	465.9+/-354.3	219,994,990	175	165	168		1038,1038	-0.1	0.1	13	dbSNP_88	168	1368,7232	266.5+/-286.8	99,1170,3031	yes	missense,missense	RNF17	NM_001184993.1,NM_031277.2	94,94	318,2164,4021	CC,CA,AA		15.907,32.5011,21.5285	benign,benign	346/1620,346/1624	25367282	2800,10206	2203	4300	6503	SO:0001583	missense	56163	exon10			AAAGAAAAAGGTT	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1038A>C	13.37:g.25367282A>C	ENSP00000255324:p.Lys346Asn	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	105	5	NM_001184993	0	0	0	0	0	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	329	0.15064102564102563	162	0.32926829268292684	41	0.1132596685082873	0	0.0	126	0.1662269129287599	A	2.686	-0.274285	0.05679	0.325011	0.15907	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.19105	3.43;3.43;2.17	5.03	-0.125	0.13519	.	0.419347	0.22513	N	0.059069	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.30281	0.001;0.275	B;B	0.26202	0.002;0.067	T	0.46470	-0.9189	9	0.31617	T	0.26	-8.7255	0.835	0.01138	0.5005:0.1659:0.1736:0.16	rs1451568;rs52829203;rs61594290;rs1451568	346;346	Q9BXT8;Q9BXT8-2	RNF17_HUMAN;.	N	346;346;205;347;346	ENSP00000255324:K346N;ENSP00000371346:K346N;ENSP00000255325:K347N	ENSP00000255324:K346N	K	+	3	2	RNF17	24265282	0.371000	0.25056	0.084000	0.20598	0.007000	0.05969	0.331000	0.19733	0.416000	0.25844	-1.007000	0.02485	AAA	A|0.801;C|0.199		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25367282	A	C	25367282	3	2	27	1	0	0	0	0	1	0	0	0	13506	11	1	5	1076	5	RNF17	13	25367282	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10		25367282	89802596	235	4795											
SLC7A1	6541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	30088674	30088674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggtcggcatccagggaCgcctcctcgctgtgccacag	13	15	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr13:30088674C>T	ENST00000380752.5	-	13	2219	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	611					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATCCAGGGACGCCTCCTCGC	0.662																																					p.A611A		.											.	SLC7A1-90	0			c.G1833A						.						56	44	48					13																	30088674		2203	4300	6503	SO:0001819	synonymous_variant	6541	exon13			CAGGGACGCCTCC	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1833G>A	13.37:g.30088674C>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	44	43	NM_003045	0	0	0	8	8	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																			.		0.662	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		T	30088674	C	T	30088674	2	4	27	1	0	0	0	0	0	0	0	1	14737	523	19	1		1	SLC7A1	13	30088674	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4721392	30088674	85081204	236	4796											
ARL11	115761	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	50204724	50204724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccactgttggtttcaaCgtggagcctctgaaagctcc	10	13	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr13:50204724C>T	ENST00000282026.1	+	2	476	c.141C>T	c.(139-141)aaC>aaT	p.N47N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	47					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TTGGTTTCAACGTGGAGCCTC	0.617																																					p.N47N		.											.	ARL11-90	0			c.C141T						.						57	57	57					13																	50204724		2203	4300	6503	SO:0001819	synonymous_variant	115761	exon2			TTTCAACGTGGAG	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.141C>T	13.37:g.50204724C>T		Somatic	201	2		WXS	Illumina GAIIx	Phase_I	163	139	NM_138450	0	0	0	4	4		Silent	SNP	ENST00000282026.1	37	CCDS9419.1																																																																																			.		0.617	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		T	50204724	C	T	50204724	2	4	27	1	0	0	0	0	0	0	0	1	927	535	19	1		1	ARL11	13	50204724	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	20116050	50204724	64965154	237	4797											
SLC10A2	6555	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	103701788	103701788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgtttcaaaagcaaccGttcggcacctaaagaagatg	8	12	1	2	rs145541774		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr13:103701788G>A	ENST00000245312.3	-	5	1366	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	257					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T257M(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AAAAGCAACCGTTCGGCACCT	0.408													G|||	1	0.000199681	0	0.0014	5008	,	,		16304	0		0	False		,,,				2504	0				p.T257M		.											.	SLC10A2-94	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.C770T						.	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	96	74	81		770	5.7	0.6	13	dbSNP_134	81	0,8600		0,0,4300	yes	missense	SLC10A2	NM_000452.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	257/349	103701788	2,13004	2203	4300	6503	SO:0001583	missense	6555	exon5			GCAACCGTTCGGC	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.770C>T	13.37:g.103701788G>A	ENSP00000245312:p.Thr257Met	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	97	8	NM_000452	0	0	0	0	0	A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.74	3.687681	0.68157	4.54E-4	0.0	ENSG00000125255	ENST00000245312	T	0.75938	-0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89842	0.6832	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91125	0.4933	10	0.87932	D	0	-15.9881	20.181	0.98201	0.0:0.0:1.0:0.0	.	257	Q12908	NTCP2_HUMAN	M	257	ENSP00000245312:T257M	ENSP00000245312:T257M	T	-	2	0	SLC10A2	102499789	1.000000	0.71417	0.563000	0.28383	0.118000	0.20060	9.804000	0.99143	2.840000	0.97914	0.655000	0.94253	ACG	G|1.000;A|0.000		0.408	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			A	103701788	G	A	103701788	3	1	27	1	0	0	0	0	1	0	0	0	14419	1145	40	1	284	1	SLC10A2	13	103701788	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	53497064	103701788	11468090	238	4798											
ATP11A	23250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	113516786	113516786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgccctgctgcgctggcGcgtgttcatctactggacgc	13	13	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr13:113516786G>A	ENST00000487903.1	+	25	2976	c.2888G>A	c.(2887-2889)cGc>cAc	p.R963H	ATP11A_ENST00000375630.2_Missense_Mutation_p.R963H|ATP11A_ENST00000375645.3_Missense_Mutation_p.R963H|ATP11A_ENST00000283558.8_Missense_Mutation_p.R963H			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	963					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R963H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCGCTGGCGCGTGTTCATC	0.567																																					p.R963H		.											.	ATP11A-138	1	Substitution - Missense(1)	ovary(1)	c.G2888A						.						157	119	132					13																	113516786		2203	4300	6503	SO:0001583	missense	23250	exon25			GCTGGCGCGTGTT	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.2888G>A	13.37:g.113516786G>A	ENSP00000420387:p.Arg963His	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	106	100	NM_032189	0	0	0	3	3	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131012	0.56828	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.21	5.21	0.72293	.	0.057810	0.64402	D	0.000001	T	0.53384	0.1793	M	0.66939	2.045	0.46654	D	0.999142	D;P	0.53745	0.962;0.932	B;P	0.49361	0.416;0.608	T	0.56456	-0.7976	10	0.48119	T	0.1	.	18.774	0.91902	0.0:0.0:1.0:0.0	.	963;963	E9PEJ6;P98196	.;AT11A_HUMAN	H	963	ENSP00000420387:R963H;ENSP00000364781:R963H;ENSP00000364796:R963H;ENSP00000283558:R963H	ENSP00000283558:R963H	R	+	2	0	ATP11A	112564787	1.000000	0.71417	0.952000	0.39060	0.114000	0.19823	5.365000	0.66116	2.415000	0.81967	0.561000	0.74099	CGC	.		0.567	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113516786	G	A	113516786	3	1	27	1	0	0	0	0	1	0	0	0	1120	1087	38	1	2986	1	ATP11A	13	113516786	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9814998	113516786	1653092	239	4799											
CHD8	57680	ucsc.edu	37	chr14	21859130	21859130	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatttctagagttagcTgtctgtactggttccattcc	7	11	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:21859130T>C	ENST00000557364.1	-	37	7421	c.7158A>G	c.(7156-7158)acA>acG	p.T2386T	CHD8_ENST00000399982.2_Silent_p.T2386T|CHD8_ENST00000430710.3_Silent_p.T2107T|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2386					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TAGAGTTAGCTGTCTGTACTG	0.373																																					p.T2386T		.											.	CHD8-277	0			c.A7158G						.						121	109	113					14																	21859130		1849	4105	5954	SO:0001819	synonymous_variant	57680	exon36			GTTAGCTGTCTGT	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.7158A>G	14.37:g.21859130T>C		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	38	4	NM_001170629	0	0	36	36	0	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	CCDS53885.1																																																																																			.		0.373	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21859130	T	C	21859130	2	2	27	1	0	0	0	0	0	0	0	1	3338	1567	55	4		4	CHD8	14	21859130	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10		21859130	85490410	240	4800											
IRF9	10379	hgsc.bcm.edu;bcgsc.ca	37	chr14	24631381	24631381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagggcacgctgcaccCgaaaactccggaactgggtg	14	13	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:24631381C>T	ENST00000396864.3	+	2	315	c.28C>T	c.(28-30)Cga>Tga	p.R10*	IRF9_ENST00000557894.1_Intron|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	10					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)		ACGCTGCACCCGAAAACTCCG	0.567																																					p.R10X		.											.	IRF9-69	0			c.C28T						.						109	104	106					14																	24631381		2203	4300	6503	SO:0001587	stop_gained	10379	exon2			TGCACCCGAAAAC	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.28C>T	14.37:g.24631381C>T	ENSP00000380073:p.Arg10*	Somatic	267	2		WXS	Illumina GAIIx	Phase_I	167	151	NM_006084	0	0	0	24	24	D3DS61	Nonsense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.321256	0.97471	.	.	ENSG00000213928	ENST00000396864	.	.	.	5.12	4.22	0.49857	.	0.000000	0.64402	U	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-8.0552	9.8469	0.41032	0.1577:0.6901:0.1521:0.0	.	.	.	.	X	10	.	ENSP00000380073:R10X	R	+	1	2	IRF9	23701221	0.777000	0.28628	1.000000	0.80357	0.887000	0.51463	1.721000	0.38032	1.377000	0.46286	0.655000	0.94253	CGA	.		0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			T	24631381	C	T	24631381	4	4	27	1	0	0	0	0	0	1	0	0	7864	644	23	1	30	1	IRF9	14	24631381	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2772251	24631381	82718159	241	4801											
RPL10L	140801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	47120739	47120739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggcacaaatacgggcGgcctccagggcttcagaaga	13	10	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:47120739G>A	ENST00000298283.3	-	1	289	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	67					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAATACGGGCGGCCTCCAGGG	0.512																																					p.A67A		.											.	RPL10L-91	0			c.C201T						.						67	70	69					14																	47120739		2203	4300	6503	SO:0001819	synonymous_variant	140801	exon1			ACGGGCGGCCTCC	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.201C>T	14.37:g.47120739G>A		Somatic	126	1		WXS	Illumina GAIIx	Phase_I	93	78	NM_080746	0	0	0	0	0	Q8IUD1	Silent	SNP	ENST00000298283.3	37	CCDS32071.1																																																																																			.		0.512	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			A	47120739	G	A	47120739	2	1	27	1	0	0	0	0	0	0	0	1	13601	1103	39	1		1	RPL10L	14	47120739	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	22489358	47120739	60228801	242	4802											
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52478319	52478319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagttccagaccagcaCggctgattgtccgtccagca	9	16	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:52478319C>T	ENST00000216286.5	-	17	3502	c.3503G>A	c.(3502-3504)cGt>cAt	p.R1168H	NID2_ENST00000541773.1_Missense_Mutation_p.R1067H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1168					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)					CAGACCAGCACGGCTGATTGT	0.493																																					p.R1168H		.											.	NID2-158	0			c.G3503A						.						153	125	134					14																	52478319		2203	4300	6503	SO:0001583	missense	22795	exon17			CCAGCACGGCTGA	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.3503G>A	14.37:g.52478319C>T	ENSP00000216286:p.Arg1168His	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	89	70	NM_007361	0	0	2	2	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383098	0.82792	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	T;T	0.34667	1.35;1.35	5.92	5.92	0.95590	Six-bladed beta-propeller, TolB-like (1);	0.093016	0.64402	D	0.000001	T	0.73361	0.3577	H	0.95043	3.615	0.44619	D	0.997598	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.987;0.997;0.993	T	0.79393	-0.1822	10	0.52906	T	0.07	.	19.9157	0.97061	0.0:1.0:0.0:0.0	.	762;1067;1168	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	H	1168;762;1067	ENSP00000216286:R1168H;ENSP00000443730:R1067H	ENSP00000216286:R1168H	R	-	2	0	NID2	51548069	1.000000	0.71417	0.939000	0.37840	0.145000	0.21501	6.022000	0.70839	2.809000	0.96659	0.655000	0.94253	CGT	.		0.493	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52478319	C	T	52478319	3	4	27	1	0	0	0	0	1	0	0	0	10454	536	19	1	648	1	NID2	14	52478319	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5357580	52478319	54871221	243	4803											
DACT1	51339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	59113818	59113818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatcctccgctttcGgtctggctctttgaaactga	10	10	2	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:59113818G>A	ENST00000335867.4	+	4	2501	c.2477G>A	c.(2476-2478)cGg>cAg	p.R826Q	DACT1_ENST00000541264.2_Missense_Mutation_p.R545Q|DACT1_ENST00000556859.1_Missense_Mutation_p.R545Q|DACT1_ENST00000395153.3_Missense_Mutation_p.R789Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	826					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTCCGCTTTCGGTCTGGCTCT	0.423																																					p.R826Q		.											.	DACT1-291	0			c.G2477A						.						113	117	115					14																	59113818		2203	4300	6503	SO:0001583	missense	51339	exon4			GCTTTCGGTCTGG	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2477G>A	14.37:g.59113818G>A	ENSP00000337439:p.Arg826Gln	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	50	46	NM_016651	0	0	0	0	0	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725107	0.48833	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	T	0.55561	0.1928	L	0.35644	1.08	0.47214	D	0.999355	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.35773	-0.9775	10	0.15066	T	0.55	-19.7697	20.422	0.99049	0.0:0.0:1.0:0.0	.	789;826	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	Q	545;545;789;826;545	ENSP00000451598:R545Q;ENSP00000378581:R545Q;ENSP00000378582:R789Q;ENSP00000337439:R826Q;ENSP00000442850:R545Q	ENSP00000337439:R826Q	R	+	2	0	DACT1	58183571	0.997000	0.39634	0.731000	0.30826	0.919000	0.55068	3.763000	0.55257	2.832000	0.97577	0.655000	0.94253	CGG	.		0.423	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113818	G	A	59113818	3	1	27	1	0	0	0	0	1	0	0	0	4231	1116	39	1	2491	1	DACT1	14	59113818	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6635499	59113818	48235722	244	4804											
JKAMP	729665	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	59970693	59970693	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgagcaagatttgccccTtttggctttggtacctacac	8	11	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:59970693T>C	ENST00000537690.2	-	0	2616				JKAMP_ENST00000356057.5_Missense_Mutation_p.L288P|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.L280P|JKAMP_ENST00000425728.2_Missense_Mutation_p.L274P|JKAMP_ENST00000554271.1_Missense_Mutation_p.L294P	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175																		GATTTGCCCCTTTTGGCTTTG	0.418																																					p.L280P		.											.	JKAMP-67	0			c.T839C						.						135	127	130					14																	59970693		1833	4081	5914	SO:0001628	intergenic_variant	51528	exon7			TGCCCCTTTTGGC		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 38"	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970693T>C		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	108	8	NM_016475	0	0	50	50	0	G3V5J7	Missense_Mutation	SNP	ENST00000537690.2	37	CCDS53898.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624848	0.87560	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000356057	.	.	.	5.84	5.84	0.93424	.	0.062520	0.64402	D	0.000003	T	0.79064	0.4383	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998	D;D;D;D;D	0.74348	0.983;0.971;0.971;0.971;0.971	T	0.81593	-0.0862	9	0.87932	D	0	-12.0357	16.2167	0.82231	0.0:0.0:0.0:1.0	.	295;294;274;288;280	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	P	280;274;294;288	.	ENSP00000261247:L280P	L	+	2	0	JKAMP	59040446	1.000000	0.71417	0.967000	0.41034	0.968000	0.65278	7.912000	0.87465	2.231000	0.72958	0.533000	0.62120	CTT	.		0.418	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399		C	59970693	T	C	59970693	1	2	27	0	1	0	0	0	0	0	0	0	7976	1609	56	4		4	JKAMP	14	59970693	IGR	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	856875	59970693	47378847	245	4805											
NUMB	8650	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	73743997	73743997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagattgaccccactcGgtccctggaaccaacaagat	8	14	0	4	rs578172055	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:73743997G>A	ENST00000355058.3	-	13	1523	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	NUMB_ENST00000359560.3_Silent_p.T404T|NUMB_ENST00000454166.4_Silent_p.T269T|NUMB_ENST00000555394.1_Silent_p.T367T|NUMB_ENST00000555738.2_Silent_p.T258T|NUMB_ENST00000544991.3_Silent_p.T220T|NUMB_ENST00000554546.1_Silent_p.T356T|NUMB_ENST00000560335.1_Silent_p.T269T|NUMB_ENST00000555238.1_Silent_p.T415T|NUMB_ENST00000356296.4_Silent_p.T367T|NUMB_ENST00000554521.2_Silent_p.T209T|NUMB_ENST00000557597.1_Silent_p.T404T|NUMB_ENST00000559312.1_Silent_p.T220T|NUMB_ENST00000535282.1_Silent_p.T404T|NUMB_ENST00000556772.1_Silent_p.T271T			P49757	NUMB_HUMAN	numb homolog (Drosophila)	415					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GACCCCACTCGGTCCCTGGAA	0.483													G|||	2	0.000399361	0	0.0014	5008	,	,		19826	0		0	False		,,,				2504	0.001				p.T415T		.											.	NUMB-1062	0			c.C1245T						.						15	15	15					14																	73743997		2172	4238	6410	SO:0001819	synonymous_variant	8650	exon13			CCACTCGGTCCCT	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1245C>T	14.37:g.73743997G>A		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	48	34	NM_001005743	0	0	0	0	0	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																			.		0.483	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			A	73743997	G	A	73743997	2	1	27	1	0	0	0	0	0	0	0	1	10790	1103	39	1		1	NUMB	14	73743997	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	13773304	73743997	33605543	246	4806											
CCDC88C	440193	broad.mit.edu	37	chr14	91883084	91883084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaaggtaacttacatTtgcagcataatttggttcaa	9	5	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:91883084T>C	ENST00000389857.6	-	2	245	c.159A>G	c.(157-159)caA>caG	p.Q53Q	CCDC88C_ENST00000389856.5_Silent_p.Q45Q|RP11-895M11.3_ENST00000557524.1_lincRNA|CCDC88C_ENST00000553403.1_Silent_p.Q53Q|CCDC88C_ENST00000554165.1_5'UTR	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	53					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)				TAACTTACATTTGCAGCATAA	0.468																																					p.Q53Q		.											.	CCDC88C-25	0			c.A159G						.						52	49	50					14																	91883084		1912	4127	6039	SO:0001819	synonymous_variant	440193	exon2			TTACATTTGCAGC		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.159A>G	14.37:g.91883084T>C		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	100	4	NM_001080414	0	0	0	0	0	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																			.		0.468	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		C	91883084	T	C	91883084	2	2	27	1	0	0	0	0	0	0	0	1	2872	1838	64	4		4	CCDC88C	14	91883084	Silent	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	18139087	91883084	15466456	247	4807											
AHNAK2	113146	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105416412	105416412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggagcctcgacGtccacctccacgctgggcag	12	16	0	0	rs187143773	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr14:105416412G>A	ENST00000333244.5	-	7	5495	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1792						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)			GAGCCTCGACGTCCACCTCCA	0.632													.|||	1	0.000199681	8e-04	0	5008	,	,		15613	0		0	False		,,,				2504	0				p.D1792D		.											.	AHNAK2-47	0			c.C5376T						.	G		1,3959		0,1,1979	119	141	134		5376	1	0	14		134	2,8256		1,0,4128	no	coding-synonymous	AHNAK2	NM_138420.2		1,1,6107	AA,AG,GG		0.0242,0.0253,0.0246		1792/5796	105416412	3,12215	1980	4129	6109	SO:0001819	synonymous_variant	113146	exon7			CTCGACGTCCACC	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.5376C>T	14.37:g.105416412G>A		Somatic	240	3		WXS	Illumina GAIIx	Phase_I	186	161	NM_138420	0	0	0	1	1	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			G|0.999;A|0.001		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105416412	G	A	105416412	2	1	27	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105416412	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	13533328	105416412	1933128	248	4808											
CYFIP1	23191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	22940826	22940826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttcatttcggagctggCgcgctacagcaacagcgagg	14	12	1	0	rs569768747		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:22940826C>T	ENST00000313077.7	+	11	1216	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	CYFIP1_ENST00000560848.1_Missense_Mutation_p.A364V	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)		TCGGAGCTGGCGCGCTACAGC	0.592													C|||	1	0.000199681	0	0	5008	,	,		19752	0		0.001	False		,,,				2504	0				p.A364V		.											.	CYFIP1-99	0			c.C1091T						.						48	38	41					15																	22940826		2203	4300	6503	SO:0001583	missense	23191	exon11			AGCTGGCGCGCTA	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.1091C>T	15.37:g.22940826C>T	ENSP00000324549:p.Ala364Val	Somatic	249	1		WXS	Illumina GAIIx	Phase_I	150	133	NM_014608	0	0	1	11	10		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379668	0.95945	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.24151	1.87	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.52853	0.1760	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.71184	0.972;0.907	T	0.53865	-0.8378	10	0.87932	D	0	-21.9199	19.6873	0.95984	0.0:1.0:0.0:0.0	.	392;364	E7EQ04;Q7L576	.;CYFP1_HUMAN	V	364;392	ENSP00000324549:A364V	ENSP00000324549:A364V	A	+	2	0	CYFIP1	20492267	1.000000	0.71417	0.962000	0.40283	0.894000	0.52154	7.626000	0.83164	2.664000	0.90586	0.591000	0.81541	GCG	.		0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22940826	C	T	22940826	3	4	27	1	0	0	0	0	1	0	0	0	4146	768	27	1	1129	1	CYFIP1	15	22940826	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		22940826	79590566	249	4809											
PGBD4	161779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	34396376	34396376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatttgctgctcccaataCgacaaggatggcaagaagat	9	8	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:34396376C>T	ENST00000397766.2	+	1	2103	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	548										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCTCCCAATACGACAAGGATG	0.478																																					p.Y548Y		.											.	PGBD4-90	0			c.C1644T						.						116	97	104					15																	34396376		2201	4298	6499	SO:0001819	synonymous_variant	161779	exon1			CCAATACGACAAG	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1644C>T	15.37:g.34396376C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	51	46	NM_152595	0	0	0	2	2	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	CCDS10033.1																																																																																			.		0.478	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			T	34396376	C	T	34396376	2	4	27	1	0	0	0	0	0	0	0	1	11822	547	19	1		1	PGBD4	15	34396376	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	11455550	34396376	68135016	250	4810											
DUOX2	50506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	45394110	45394110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccttgtcctggaatcccGactcccggaacatagactcc	7	17	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:45394110G>A	ENST00000603300.1	-	21	2934	c.2732C>T	c.(2731-2733)tCg>tTg	p.S911L	DUOX2_ENST00000389039.6_Missense_Mutation_p.S911L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	911	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)			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)		CTGGAATCCCGACTCCCGGAA	0.572																																					p.S911L		.											.	DUOX2-95	0			c.C2732T						.						105	90	95					15																	45394110		2198	4298	6496	SO:0001583	missense	50506	exon21			AATCCCGACTCCC	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.2732C>T	15.37:g.45394110G>A	ENSP00000475084:p.Ser911Leu	Somatic	305	0		WXS	Illumina GAIIx	Phase_I	192	168	NM_014080	0	0	0	0	0	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362798	0.82353	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	EF-hand-like domain (1);	0.167182	0.52532	D	0.000069	T	0.43433	0.1247	L	0.36672	1.1	0.54753	D	0.999987	P;P	0.42518	0.531;0.782	B;B	0.32928	0.075;0.155	T	0.47368	-0.9123	9	0.54805	T	0.06	-2.7159	19.1261	0.93384	0.0:0.0:1.0:0.0	.	911;473	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	911	.	ENSP00000373691:S911L	S	-	2	0	DUOX2	43181402	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	9.476000	0.97823	2.779000	0.95612	0.655000	0.94253	TCG	.		0.572	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45394110	G	A	45394110	3	1	27	1	0	0	0	0	1	0	0	0	4815	1059	37	1	1970	1	DUOX2	15	45394110	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	10997734	45394110	57137282	251	4811											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	63063254	63063289	+	In_Frame_Del	DEL	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	-													tcatcagcagcagatgacggTgctggaccagaccaagactc					rs150770826|rs200255870	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:63063254_63063289delTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	ENST00000561311.1	+	41	5518_5553	c.5288_5323delTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	c.(5287-5325)gtgctggaccagaccaagactctcgcagagtctgccttg>gtg	p.LDQTKTLAESAL1764del	TLN2_ENST00000306829.6_In_Frame_Del_p.LDQTKTLAESAL1764del|TLN2_ENST00000472902.1_In_Frame_Del_p.LDQTKTLAESAL157del			Q9Y4G6	TLN2_HUMAN	talin 2	1764					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)	p.L1770L(1)		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						CAGATGACGGTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCTTGCAGATGTT	0.504																																					p.1763_1775del		.											.	TLN2-573	1	Substitution - coding silent(1)	large_intestine(1)	c.5288_5323del						.																																			SO:0001651	inframe_deletion	83660	exon39			TGACGGTGCTGGA	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.5288_5323delTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	15.37:g.63063254_63063289delTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	ENSP00000453508:p.Leu1764_Leu1775del	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	69	27	NM_015059	0	0	0	0	0	A6NLB8	In_Frame_Del	DEL	ENST00000561311.1	37	CCDS32261.1																																																																																			.		0.504	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			-	63063289	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	-	63063254	7	5	27	1	0	1	0	1	0	0	0	0	15995	1696	59	0	5442	0	TLN2	15	63063254	In_Frame_Del	DEL	TGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT	TCGA-OR-A5K4-01A-11D-A29I-10	17669144	63063254	39468138	252	4812											
IGDCC3	9543	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65622120	65622120	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgatgcaagtgaccccGatgtggatgccgatgacgat	13	8	0	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:65622120G>A	ENST00000327987.4	-	12	2192	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	647					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGTGACCCCGATGTGGATGC	0.647																																					p.I647I		.											.	IGDCC3-93	0			c.C1941T						.						123	69	87					15																	65622120		2201	4299	6500	SO:0001819	synonymous_variant	9543	exon12			GACCCCGATGTGG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1941C>T	15.37:g.65622120G>A		Somatic	280	1		WXS	Illumina GAIIx	Phase_I	130	39	NM_004884	0	0	0	0	0	O95215	Silent	SNP	ENST00000327987.4	37	CCDS10205.1																																																																																			.		0.647	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65622120	G	A	65622120	2	1	27	1	0	0	0	0	0	0	0	1	7595	1048	37	1		1	IGDCC3	15	65622120	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2558866	65622120	36909272	253	4813											
CYP11A1	1583	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74632008	74632008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgggcctggtgccgCgcagccaagacctctgcccg	12	18	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:74632008C>T	ENST00000268053.6	-	6	1231	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	CYP11A1_ENST00000419019.2_Silent_p.A201A|CYP11A1_ENST00000358632.4_Silent_p.A201A	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	359			A -> V (in AICSR; markedly reduced activity). {ECO:0000269|PubMed:16705068}.		biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CCTGGTGCCGCGCAGCCAAGA	0.602																																					p.A359A	Esophageal Squamous(87;818 1337 4093 9268 37314)	.											.	CYP11A1-92	0			c.G1077A						.						135	103	113					15																	74632008		2197	4296	6493	SO:0001819	synonymous_variant	1583	exon6			GTGCCGCGCAGCC	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1077G>A	15.37:g.74632008C>T		Somatic	149	2		WXS	Illumina GAIIx	Phase_I	80	73	NM_000781	1	1	34	841	805	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	CCDS32291.1																																																																																			.		0.602	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			T	74632008	C	T	74632008	2	4	27	1	0	0	0	0	0	0	0	1	4153	755	27	1		1	CYP11A1	15	74632008	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9009888	74632008	27899384	254	4814											
CSPG4	1464	broad.mit.edu	37	chr15	75980201	75980201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggctcatctacggccaCgatactgccaaagaggaggt	13	11	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:75980201C>T	ENST00000308508.5	-	3	3297	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1069	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTACGGCCACGATACTGCCA	0.622																																					p.V1069M		.											.	CSPG4-229	0			c.G3205A						.						62	63	62					15																	75980201		2197	4293	6490	SO:0001583	missense	1464	exon3			CGGCCACGATACT	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.3205G>A	15.37:g.75980201C>T	ENSP00000312506:p.Val1069Met	Somatic	258	1		WXS	Illumina GAIIx	Phase_I	207	6	NM_001897	0	0	0	0	0	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.418621	0.83559	.	.	ENSG00000173546	ENST00000308508	T	0.42513	0.97	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000015	T	0.65739	0.2720	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.67499	-0.5655	10	0.45353	T	0.12	.	17.455	0.87604	0.0:1.0:0.0:0.0	.	1069	Q6UVK1	CSPG4_HUMAN	M	1069	ENSP00000312506:V1069M	ENSP00000312506:V1069M	V	-	1	0	CSPG4	73767256	0.995000	0.38212	0.859000	0.33776	0.941000	0.58515	3.298000	0.51818	2.356000	0.79943	0.555000	0.69702	GTG	.		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75980201	C	T	75980201	3	4	27	1	0	0	0	0	1	0	0	0	3969	536	19	1	3795	1	CSPG4	15	75980201	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1348193	75980201	26551191	255	4815											
ADAMTS7	11173	bcgsc.ca	37	chr15	79068601	79068601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagcagatggaccaggcGctccagccagaccagccacc	12	16	0	3	rs189745536	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:79068601G>A	ENST00000388820.4	-	11	1845	c.1635C>T	c.(1633-1635)agC>agT	p.S545S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	545	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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						TGGACCAGGCGCTCCAGCCAG	0.677													G|||	3	0.000599042	0	0	5008	,	,		15861	0.002		0.001	False		,,,				2504	0				p.S545S		.											.	ADAMTS7-226	0			c.C1635T						.						56	66	63					15																	79068601		2196	4292	6488	SO:0001819	synonymous_variant	11173	exon11			CCAGGCGCTCCAG	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.1635C>T	15.37:g.79068601G>A		Somatic	207	1		WXS	Illumina GAIIx	Phase_I	191	17	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			G|0.999;A|0.001		0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79068601	G	A	79068601	2	1	27	1	0	0	0	0	0	0	0	1	271	1078	38	1		1	ADAMTS7	15	79068601	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3088400	79068601	23462791	256	4816											
RASGRF1	5923	broad.mit.edu	37	chr15	79307707	79307707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttggaattttcttcAaatgcgttcatcatgagccc	8	10	4	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:79307707A>G	ENST00000419573.3	-	13	2062	c.1788T>C	c.(1786-1788)ttT>ttC	p.F596F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.F596F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	596					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATTTTCTTCAAATGCGTTCA	0.517																																					p.F596F		.											.	RASGRF1-662	0			c.T1788C						.						176	144	155					15																	79307707		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon13			TTCTTCAAATGCG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1788T>C	15.37:g.79307707A>G		Somatic	125	1		WXS	Illumina GAIIx	Phase_I	80	3	NM_001145648	0	0	2	2	0	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																			.		0.517	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79307707	A	G	79307707	2	3	27	1	0	0	0	0	0	0	0	1	13117	127	5	4		4	RASGRF1	15	79307707	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	239106	79307707	23223685	257	4817											
RASGRF1	5923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	79323771	79323771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagtttggacttggcGtagtccaggctgttgcgctc	12	12	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	411	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGACTTGGCGTAGTCCAGGC	0.637																																					p.Y411Y		.											.	RASGRF1-662	0			c.C1233T						.						92	71	78					15																	79323771		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon8			CTTGGCGTAGTCC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1233C>T	15.37:g.79323771G>A		Somatic	164	1		WXS	Illumina GAIIx	Phase_I	86	80	NM_001145648	0	0	0	6	6	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																			.		0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79323771	G	A	79323771	2	1	27	1	0	0	0	0	0	0	0	1	13117	1140	40	1		1	RASGRF1	15	79323771	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	16064	79323771	23207621	258	4818											
MESDC2	23184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81271798	81271798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaagcatgaagatagcaCggtctgatcccacaatgaac	10	11	1	4	rs185628590		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:81271798C>T	ENST00000261758.4	-	3	553	c.467G>A	c.(466-468)cGt>cAt	p.R156H	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	156	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GAAGATAGCACGGTCTGATCC	0.522													C|||	1	0.000199681	0	0	5008	,	,		19095	0		0.001	False		,,,				2504	0				p.R156H		.											.	MESDC2-90	0			c.G467A						.						70	66	67					15																	81271798		2203	4300	6503	SO:0001583	missense	23184	exon3			ATAGCACGGTCTG	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.467G>A	15.37:g.81271798C>T	ENSP00000261758:p.Arg156His	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	71	62	NM_015154	0	0	1	72	71	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.6	4.937836	0.92526	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.9	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.75986	-0.3124	9	0.87932	D	0	-14.0834	12.065	0.53583	0.0:0.8136:0.1213:0.0651	.	156	Q14696	MESD_HUMAN	H	156	.	ENSP00000261758:R156H	R	-	2	0	MESDC2	79058853	1.000000	0.71417	0.668000	0.29813	0.984000	0.73092	7.480000	0.81109	0.834000	0.34852	0.650000	0.86243	CGT	C|0.999;T|0.000		0.522	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		T	81271798	C	T	81271798	3	4	27	1	0	0	0	0	1	0	0	0	9519	536	19	1	241	1	MESDC2	15	81271798	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1948027	81271798	21259594	259	4819											
IGF1R	3480	broad.mit.edu	37	chr15	99442820	99442820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcctaaaaaaccttcGcctcatcctaggagaggagc	8	13	1	1	rs148662051		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr15:99442820G>A	ENST00000268035.6	+	5	1828	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	IGF1R_ENST00000558762.1_Missense_Mutation_p.R406H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	406					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)"	AAAAACCTTCGCCTCATCCTA	0.493																																					p.R406H		.											.	IGF1R-1490	0			c.G1217A						.	G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	147	146	146		1217	5.4	1	15	dbSNP_134	146	1,8593	1.2+/-3.3	0,1,4296	no	missense	IGF1R	NM_000875.3	29	0,2,6492	AA,AG,GG		0.0116,0.0228,0.0154	benign	406/1368	99442820	2,12986	2197	4297	6494	SO:0001583	missense	3480	exon5			ACCTTCGCCTCAT	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.1217G>A	15.37:g.99442820G>A	ENSP00000268035:p.Arg406His	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	102	4	NM_000875	0	0	6	6	0	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093354	0.76756	2.28E-4	1.16E-4	ENSG00000140443	ENST00000268035	D	0.84944	-1.92	5.44	5.44	0.79542	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000016	D	0.83202	0.5203	M	0.71920	2.185	0.80722	D	1	P;B	0.40083	0.702;0.233	B;B	0.30179	0.107;0.112	D	0.83701	0.0182	10	0.37606	T	0.19	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	406;406	C9J5X1;P08069	.;IGF1R_HUMAN	H	406	ENSP00000268035:R406H	ENSP00000268035:R406H	R	+	2	0	IGF1R	97260343	1.000000	0.71417	0.962000	0.40283	0.876000	0.50452	9.813000	0.99286	2.712000	0.92718	0.563000	0.77884	CGC	G|1.000;A|0.000		0.493	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99442820	G	A	99442820	3	1	27	1	0	0	0	0	1	0	0	0	7598	1087	38	1	1235	1	IGF1R	15	99442820	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	18171022	99442820	3088572	260	4820											
PRR25	388199	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	857545	857545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccccgcgtgcaggcgcCgggcctgggcccctgtggcc	17	18	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:857545C>T	ENST00000301698.1	+	2	542	c.542C>T	c.(541-543)cCg>cTg	p.P181L		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	181	Pro-rich.									large_intestine(1)|lung(1)|skin(1)	3						GTGCAGGCGCCGGGCCTGGGC	0.726																																					p.P181L		.											.	PRR25-135	0			c.C542T						.						6	7	7					16																	857545		1351	3245	4596	SO:0001583	missense	388199	exon2			AGGCGCCGGGCCT	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.542C>T	16.37:g.857545C>T	ENSP00000301698:p.Pro181Leu	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	31	13	NM_001013638	0	0	0	0	0		Missense_Mutation	SNP	ENST00000301698.1	37	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141203	0.21205	.	.	ENSG00000167945	ENST00000301698	T	0.41400	1.0	0.43	0.43	0.16515	.	.	.	.	.	T	0.41328	0.1154	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.27468	-1.0073	8	0.87932	D	0	.	.	.	.	.	181	Q96S07	PRR25_HUMAN	L	181	ENSP00000301698:P181L	ENSP00000301698:P181L	P	+	2	0	PRR25	797546	0.307000	0.24500	0.005000	0.12908	0.036000	0.12997	0.834000	0.27518	0.459000	0.27016	0.462000	0.41574	CCG	.		0.726	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		T	857545	C	T	857545	3	4	27	1	0	0	0	0	1	0	0	0	12639	652	23	1	548	1	PRR25	16	857545	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		857545	89497208	261	4821											
CASKIN1	57524	broad.mit.edu	37	chr16	2235145	2235145	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgcgtgtagggcgtgAcccccgctgccccggccgcc	15	19	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:2235145A>C	ENST00000343516.6	-	12	1298	c.1206T>G	c.(1204-1206)ggT>ggG	p.G402G	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	402	CASK-binding. {ECO:0000250}.				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						GTAGGGCGTGACCCCCGCTGC	0.701																																					p.G402G		.											.	CASKIN1-92	0			c.T1206G						.						18	27	24					16																	2235145		1999	4136	6135	SO:0001819	synonymous_variant	57524	exon12			GGCGTGACCCCCG	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.1206T>G	16.37:g.2235145A>C		Somatic	48	8		WXS	Illumina GAIIx	Phase_I	107	18	NM_020764	0	0	10	10	0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																			.		0.701	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		C	2235145	A	C	2235145	2	2	27	1	0	0	0	0	0	0	0	1	2673	262	10	5		5	CASKIN1	16	2235145	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1377600	2235145	88119608	262	4822											
C16orf59	80178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2514193	2514193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggcggccctcaagctgcGagtggctgtgctggaccagc	15	14	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:2514193G>A	ENST00000361837.4	+	9	1183	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000569496.1_Missense_Mutation_p.R373Q|C16orf59_ENST00000483320.1_Missense_Mutation_p.R206Q|C16orf59_ENST00000563531.1_Missense_Mutation_p.R373Q	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	373										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTCAAGCTGCGAGTGGCTGTG	0.642																																					p.R373Q		.											.	C16orf59-90	0			c.G1118A						.						12	15	14					16																	2514193		1956	4121	6077	SO:0001583	missense	80178	exon9			AGCTGCGAGTGGC	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.1118G>A	16.37:g.2514193G>A	ENSP00000355022:p.Arg373Gln	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	155	32	NM_025108	0	0	0	1	1	B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545892	0.27652	.	.	ENSG00000162062	ENST00000361837	T	0.48836	0.8	4.2	2.18	0.27775	.	0.265632	0.27043	N	0.021215	T	0.31389	0.0795	L	0.47190	1.495	0.09310	N	0.999999	P;P;P	0.52061	0.868;0.868;0.95	B;B;B	0.35813	0.211;0.211;0.211	T	0.19614	-1.0300	10	0.36615	T	0.2	-14.3306	7.1564	0.25639	0.1981:0.0:0.8019:0.0	.	373;206;206	Q7L2K0;D3DU95;Q7L2K0-2	CP059_HUMAN;.;.	Q	373	ENSP00000355022:R373Q	ENSP00000355022:R373Q	R	+	2	0	C16orf59	2454194	0.000000	0.05858	0.453000	0.27007	0.451000	0.32288	0.081000	0.14823	0.523000	0.28482	0.561000	0.74099	CGA	.		0.642	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		A	2514193	G	A	2514193	3	1	27	1	0	0	0	0	1	0	0	0	1828	1058	37	1	1152	1	C16orf59	16	2514193	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	279048	2514193	87840560	263	4823											
PAQR4	124222	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	3021279	3021279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaccccctgcaggctcCgtgctctatcacctctttat	6	17	3	0	rs372876046		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:3021279C>T	ENST00000318782.8	+	2	718	c.288C>T	c.(286-288)tcC>tcT	p.S96S	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.S57S|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000572687.1_Intron|PAQR4_ENST00000576565.1_Silent_p.S29S|PAQR4_ENST00000574988.1_Silent_p.S29S	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	96						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CTGCAGGCTCCGTGCTCTATC	0.637																																					p.S96S		.											.	PAQR4-68	0			c.C288T						.	C		0,4396		0,0,2198	60	60	60		288	-4.5	1	16		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAQR4	NM_152341.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		96/274	3021279	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	124222	exon2			AGGCTCCGTGCTC		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.288C>T	16.37:g.3021279C>T		Somatic	113	2		WXS	Illumina GAIIx	Phase_I	140	67	NM_152341	0	0	21	29	8	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	CCDS10485.1																																																																																			.		0.637	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		T	3021279	C	T	3021279	2	4	27	1	0	0	0	0	0	0	0	1	11476	639	23	1		1	PAQR4	16	3021279	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	507086	3021279	87333474	264	4824											
ZSCAN10	84891	hgsc.bcm.edu;mdanderson.org	37	chr16	3139112	3139112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtacagcgtctcgcgggCgtgggtgcgcaggtggcgca	18	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:3139112C>T	ENST00000252463.2	-	5	2245	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T	RNU1-22P_ENST00000363334.1_RNA|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A638T|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A381T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	720					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTCTCGCGGGCGTGGGTGCGC	0.706																																					p.A720T		.											.	ZSCAN10-227	0			c.G2158A						.						12	13	12					16																	3139112		2155	4263	6418	SO:0001583	missense	84891	exon5			CGCGGGCGTGGGT	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.2158G>A	16.37:g.3139112C>T	ENSP00000252463:p.Ala720Thr	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	80	30	NM_032805	0	0	0	0	0	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	6.547	0.469187	0.12461	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.05996	3.36	4.95	0.247	0.15521	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.395168	0.21710	N	0.070289	T	0.01029	0.0034	N	0.01235	-0.94	0.80722	D	1	B;P;B	0.40360	0.116;0.714;0.377	B;B;B	0.21151	0.016;0.033;0.016	T	0.50947	-0.8767	10	0.02654	T	1	-13.9325	2.9211	0.05770	0.3749:0.3985:0.0:0.2266	.	381;653;720	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	T	653;720	ENSP00000252463:A720T	ENSP00000252463:A720T	A	-	1	0	ZSCAN10	3079113	0.001000	0.12720	0.904000	0.35570	0.877000	0.50540	-1.330000	0.02675	0.084000	0.17077	0.561000	0.74099	GCC	.		0.706	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		T	3139112	C	T	3139112	3	4	27	1	0	0	0	0	1	0	0	0	18275	768	27	1	23	1	ZSCAN10	16	3139112	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	117833	3139112	87215641	265	4825											
ZNF205	7755	broad.mit.edu	37	chr16	3169354	3169354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggagagtccagtggggCgtcccgcagtgcgcgcagga	19	11	0	1	rs558086377		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:3169354C>T	ENST00000382192.3	+	7	898	c.693C>T	c.(691-693)ggC>ggT	p.G231G	ZNF205_ENST00000219091.4_Silent_p.G231G|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	231					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TCCAGTGGGGCGTCCCGCAGT	0.692																																					p.G231G		.											.	ZNF205-90	0			c.C693T						.						29	26	27					16																	3169354		2182	4266	6448	SO:0001819	synonymous_variant	7755	exon7			GTGGGGCGTCCCG	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.693C>T	16.37:g.3169354C>T		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	97	5	NM_003456	0	0	23	25	2	A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	CCDS10494.2																																																																																			.		0.692	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		T	3169354	C	T	3169354	2	4	27	1	0	0	0	0	0	0	0	1	17812	755	27	1		1	ZNF205	16	3169354	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	30242	3169354	87185399	266	4826											
ZNF205	7755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3170139	3170139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctcgcacctcaccgCgcaccagcgcacccaccgtg	8	22	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:3170139C>T	ENST00000382192.3	+	7	1683	c.1478C>T	c.(1477-1479)gCg>gTg	p.A493V	ZNF205_ENST00000219091.4_Missense_Mutation_p.A493V|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	493					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CACCTCACCGCGCACCAGCGC	0.667																																					p.A493V		.											.	ZNF205-90	0			c.C1478T						.						85	75	79					16																	3170139		2197	4300	6497	SO:0001583	missense	7755	exon7			TCACCGCGCACCA	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1478C>T	16.37:g.3170139C>T	ENSP00000371627:p.Ala493Val	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	385	204	NM_003456	0	0	11	18	7	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888036	0.33348	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.07800	3.16;3.16	5.54	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.145169	0.32301	N	0.006298	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	B	0.33339	0.162	T	0.47837	-0.9086	10	0.25751	T	0.34	-23.7707	10.7766	0.46353	0.3025:0.6975:0.0:0.0	.	493	O95201	ZN205_HUMAN	V	493	ENSP00000371627:A493V;ENSP00000219091:A493V	ENSP00000219091:A493V	A	+	2	0	ZNF205	3110140	0.000000	0.05858	0.455000	0.27031	0.944000	0.59088	-0.050000	0.11904	2.604000	0.88044	0.561000	0.74099	GCG	.		0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		T	3170139	C	T	3170139	3	4	27	1	0	0	0	0	1	0	0	0	17812	768	27	1	1500	1	ZNF205	16	3170139	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	785	3170139	87184614	267	4827											
ZNF213	7760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3191159	3191159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgcatacacacgggCgagaagcctttcggctgcag	12	14	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:3191159C>T	ENST00000396878.3	+	6	1666	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	ZNF213_ENST00000576416.1_Silent_p.G397G|ZNF213_ENST00000416391.2_Silent_p.G239G|ZNF213_ENST00000574902.1_Silent_p.G397G	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	397					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TACACACGGGCGAGAAGCCTT	0.662																																					p.G397G		.											.	ZNF213-90	0			c.C1191T						.						43	42	42					16																	3191159		2197	4300	6497	SO:0001819	synonymous_variant	7760	exon6			CACGGGCGAGAAG	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1191C>T	16.37:g.3191159C>T		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	281	114	NM_004220	0	0	11	20	9	A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	CCDS10495.1																																																																																			.		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		T	3191159	C	T	3191159	2	4	27	1	0	0	0	0	0	0	0	1	17817	755	27	1		1	ZNF213	16	3191159	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	21020	3191159	87163594	268	4828											
ZNF500	26048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4802835	4802835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaagcctttgccacattCggggcaggtgtacggcttgt	14	10	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:4802835C>T	ENST00000219478.6	-	6	1284	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.E329K			O60304	ZN500_HUMAN	zinc finger protein 500	329					transcription, DNA-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.E329K(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TTGCCACATTCGGGGCAGGTG	0.632																																					p.E329K		.											.	ZNF500-93	1	Substitution - Missense(1)	large_intestine(1)	c.G985A						.						98	85	89					16																	4802835		2197	4300	6497	SO:0001583	missense	26048	exon6			CACATTCGGGGCA	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.985G>A	16.37:g.4802835C>T	ENSP00000219478:p.Glu329Lys	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	181	82	NM_021646	0	0	3	5	2	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956855	0.34565	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07327	3.2;3.2	4.07	2.09	0.27110	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.243812	0.21147	N	0.079390	T	0.04227	0.0117	N	0.20357	0.565	0.09310	N	1	B;P	0.36683	0.309;0.565	B;B	0.24155	0.051;0.051	T	0.37979	-0.9682	10	0.49607	T	0.09	.	7.9979	0.30280	0.0:0.791:0.0:0.209	.	329;329	B4DNN9;O60304	.;ZN500_HUMAN	K	329	ENSP00000445714:E329K;ENSP00000219478:E329K	ENSP00000219478:E329K	E	-	1	0	ZNF500	4742836	0.000000	0.05858	0.010000	0.14722	0.184000	0.23303	-0.222000	0.09190	0.217000	0.20800	0.655000	0.94253	GAA	.		0.632	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		T	4802835	C	T	4802835	3	4	27	1	0	0	0	0	1	0	0	0	17996	893	31	1	461	1	ZNF500	16	4802835	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1611676	4802835	85551918	269	4829											
EARS2	124454	broad.mit.edu	37	chr16	23546407	23546407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaggtgcttggcagTggagacgagccactcagagc	17	9	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:23546407T>G	ENST00000563459.1	-	4	766	c.760A>C	c.(760-762)Act>Cct	p.T254P	EARS2_ENST00000564501.1_Missense_Mutation_p.T254P|EARS2_ENST00000563232.1_Missense_Mutation_p.T254P|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000449606.1_Missense_Mutation_p.T254P			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	254					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGCTTGGCAGTGGAGACGAGC	0.652																																					p.T254P		.											.	EARS2-90	0			c.A760C						.						23	29	27					16																	23546407		2126	4233	6359	SO:0001583	missense	124454	exon4			TGGCAGTGGAGAC	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.760A>C	16.37:g.23546407T>G	ENSP00000456467:p.Thr254Pro	Somatic	210	18		WXS	Illumina GAIIx	Phase_I	256	26	NM_001083614	0	0	17	18	1	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629374	0.87660	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.28255	1.62	5.56	5.56	0.83823	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.047096	0.85682	D	0.000000	T	0.73218	0.3559	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.98;0.998	D	0.85213	0.1022	10	0.87932	D	0	-5.5876	14.8938	0.70627	0.0:0.0:0.0:1.0	.	254;254	Q86YH3;Q5JPH6	.;SYEM_HUMAN	P	254	ENSP00000395196:T254P	ENSP00000343488:T254P	T	-	1	0	EARS2	23453908	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.659000	0.83766	2.123000	0.65237	0.533000	0.62120	ACT	.		0.652	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		G	23546407	T	G	23546407	3	3	27	1	0	0	0	0	1	0	0	0	4892	1696	59	5	835	5	EARS2	16	23546407	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	18743572	23546407	66808346	270	4830											
GTF3C1	2975	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	27483225	27483225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgtggtccttgtactccCgatagaggcggaaagtctgc	13	10	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:27483225C>T	ENST00000356183.4	-	30	4385	c.4370G>A	c.(4369-4371)cGg>cAg	p.R1457Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1457Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1457					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						CTTGTACTCCCGATAGAGGCG	0.632																																					p.R1457Q		.											.	GTF3C1-94	0			c.G4370A						.						54	47	50					16																	27483225		2197	4300	6497	SO:0001583	missense	2975	exon30			TACTCCCGATAGA	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.4370G>A	16.37:g.27483225C>T	ENSP00000348510:p.Arg1457Gln	Somatic	128	2		WXS	Illumina GAIIx	Phase_I	136	61	NM_001520	0	0	26	40	14	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973543	0.53720	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22336	1.96	5.19	2.2	0.27929	.	0.326183	0.32703	N	0.005742	T	0.14313	0.0346	L	0.33189	0.99	0.33757	D	0.62129	B;B	0.25007	0.088;0.116	B;B	0.16722	0.005;0.016	T	0.12941	-1.0528	10	0.38643	T	0.18	-13.9325	9.4037	0.38449	0.0:0.7011:0.0:0.2989	.	1457;1457	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	1457;1453	ENSP00000348510:R1457Q	ENSP00000348510:R1457Q	R	-	2	0	GTF3C1	27390726	0.846000	0.29590	0.989000	0.46669	0.994000	0.84299	1.627000	0.37050	0.220000	0.20860	0.655000	0.94253	CGG	.		0.632	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27483225	C	T	27483225	3	4	27	1	0	0	0	0	1	0	0	0	6899	652	23	1	1991	1	GTF3C1	16	27483225	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3936818	27483225	62871528	271	4831											
ZNF785	146540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30594258	30594258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcagctgtagggcttctCgcccgtgtgcttgcgctggt	17	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:30594258C>T	ENST00000395216.2	-	3	1000	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AC002310.7_ENST00000486926.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E266K	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAGGGCTTCTCGCCCGTGTGC	0.642																																					p.E281K		.											.	ZNF785-91	0			c.G841A						.						51	49	49					16																	30594258		2197	4300	6497	SO:0001583	missense	146540	exon3			GCTTCTCGCCCGT	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.841G>A	16.37:g.30594258C>T	ENSP00000378642:p.Glu281Lys	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	183	67	NM_152458	0	0	10	17	7	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300815	0.81136	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.24350	1.86;1.86	4.25	0.0588	0.14329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	L	0.39020	1.185	0.23351	N	0.997855	B;P;B	0.46912	0.2;0.886;0.166	B;P;B	0.53401	0.084;0.725;0.05	T	0.17868	-1.0355	9	0.62326	D	0.03	.	7.9812	0.30185	0.0:0.6424:0.0:0.3576	.	246;281;266	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	K	266;246;281	ENSP00000420340:E266K;ENSP00000378642:E281K	ENSP00000378642:E281K	E	-	1	0	ZNF785	30501759	0.748000	0.28294	0.082000	0.20525	0.815000	0.46073	1.533000	0.36040	-0.094000	0.12374	0.644000	0.83932	GAG	.		0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		T	30594258	C	T	30594258	3	4	27	1	0	0	0	0	1	0	0	0	18205	893	31	1	380	1	ZNF785	16	30594258	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3111033	30594258	59760495	272	4832											
STX1B	112755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31004545	31004545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccacgttgtactcgatgCggtcaatcatctctccctgc	8	14	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:31004545C>T	ENST00000215095.5	-	9	923	c.692G>A	c.(691-693)cGc>cAc	p.R231H	STX1B_ENST00000565419.1_Missense_Mutation_p.R231H	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	231	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						GTACTCGATGCGGTCAATCAT	0.587																																					p.R231H		.											.	STX1B-90	0			c.G692A						.						142	129	133					16																	31004545		2197	4300	6497	SO:0001583	missense	112755	exon9			TCGATGCGGTCAA	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.692G>A	16.37:g.31004545C>T	ENSP00000215095:p.Arg231His	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	247	108	NM_052874	0	0	0	0	0	Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571294	0.86542	.	.	ENSG00000099365	ENST00000215095	T	0.27256	1.68	5.0	5.0	0.66597	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.73962	2.25	0.80722	D	1	D;P	0.56746	0.977;0.734	B;B	0.41894	0.369;0.369	T	0.29027	-1.0025	10	0.37606	T	0.19	-13.1055	17.0941	0.86630	0.0:1.0:0.0:0.0	.	231;231	Q2VPS2;P61266	.;STX1B_HUMAN	H	231	ENSP00000215095:R231H	ENSP00000215095:R231H	R	-	2	0	STX1B	30912046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.309000	0.77851	0.561000	0.74099	CGC	.		0.587	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			T	31004545	C	T	31004545	3	4	27	1	0	0	0	0	1	0	0	0	15391	768	27	1	182	1	STX1B	16	31004545	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	410287	31004545	59350208	273	4833											
PRSS8	5652	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31143831	31143831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggctcctcaggcttggcGtcgatgttgtacaggcagtt	14	10	1	0	rs148214625	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:31143831G>A	ENST00000317508.6	-	5	887	c.624C>T	c.(622-624)gaC>gaT	p.D208D	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.D154D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CAGGCTTGGCGTCGATGTTGT	0.607													G|||	2	0.000399361	0	0	5008	,	,		19538	0		0.002	False		,,,				2504	0				p.D208D		.											.	.	0			c.C624T						.	G		1,4247		0,1,2123	103	110	108		624	-6.3	0	16	dbSNP_134	108	4,8458		0,4,4227	no	coding-synonymous	PRSS8	NM_002773.3		0,5,6350	AA,AG,GG		0.0473,0.0235,0.0393		208/344	31143831	5,12705	2124	4231	6355	SO:0001819	synonymous_variant	5652	exon5			CTTGGCGTCGATG	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.624C>T	16.37:g.31143831G>A		Somatic	282	2		WXS	Illumina GAIIx	Phase_I	281	128	NM_002773	0	0	112	114	2	B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	CCDS45469.1																																																																																			G|0.999;A|0.001		0.607	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		A	31143831	G	A	31143831	2	1	27	1	0	0	0	0	0	0	0	1	12677	1136	40	1		1	PRSS8	16	31143831	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	139286	31143831	59210922	274	4834											
VPS35	55737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	46697064	46697064	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggcatttcttttccCatttgtcatcctaaaacaag	4	11	4	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:46697064C>T	ENST00000299138.7	-	14	1716	c.1658G>A	c.(1657-1659)tGg>tAg	p.W553*	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	553					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTCTTTTCCCATTTGTCATC	0.323																																					p.W553X		.											.	VPS35-90	0			c.G1658A						.						39	39	39					16																	46697064		2203	4300	6503	SO:0001587	stop_gained	55737	exon14			TTTTCCCATTTGT	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1658G>A	16.37:g.46697064C>T	ENSP00000299138:p.Trp553*	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	73	31	NM_018206	0	0	0	0	0	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Nonsense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	38	6.777574	0.97829	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-9.783	19.2823	0.94057	0.0:1.0:0.0:0.0	.	.	.	.	X	553;418	.	ENSP00000299138:W553X	W	-	2	0	VPS35	45254565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.554000	0.86153	0.561000	0.74099	TGG	.		0.323	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			T	46697064	C	T	46697064	4	4	27	1	0	0	0	0	0	1	0	0	17252	595	21	3	748	3	VPS35	16	46697064	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	15553233	46697064	43657689	275	4835											
GPT2	84706	broad.mit.edu	37	chr16	46934689	46934690	+	Frame_Shift_Ins	INS	-	-	G													ggatcctgcaggcttgtggcINSgggaacagcctgggtgaggc					rs114467444	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:46934689_46934690insG	ENST00000340124.4	+	4	541_542	c.429_430insG	c.(430-432)gggfs	p.G144fs	GPT2_ENST00000440783.2_Frame_Shift_Ins_p.G44fs	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	144					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGGCTTGTGGCGGGAACAGCCT	0.629																																					p.G143fs		.											.	GPT2-92	0			c.429_430insG						.																																			SO:0001589	frameshift_variant	84706	exon4			TTGTGGCGGGAAC		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.432dupG	16.37:g.46934692_46934692dupG	ENSP00000345282:p.Gly144fs	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	166	9	NM_133443	0	0	0	0	0	Q8N9E2	Frame_Shift_Ins	INS	ENST00000340124.4	37	CCDS10725.1																																																																																			.		0.629	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			G	46934690	-	G	46934689	7	5	27	1	0	1	1	0	0	0	0	0	6765	755	27	0	439	0	GPT2	16	46934689	Frame_Shift_Ins	INS	-	TCGA-OR-A5K4-01A-11D-A29I-10	237625	46934689	43420064	276	4836											
PHKB	5257	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	47644802	47644802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcccactaaaggatcaaCgtaacgtgagcatgaggttt	10	8	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:47644802C>T	ENST00000323584.5	+	14	1453	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PHKB_ENST00000455779.1_Missense_Mutation_p.R470C|PHKB_ENST00000566044.1_Missense_Mutation_p.R470C|PHKB_ENST00000299167.8_Missense_Mutation_p.R477C	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	477					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)				AAAGGATCAACGTAACGTGAG	0.358																																					p.R477C		.											.	PHKB-154	0			c.C1429T						.						117	104	109					16																	47644802		2201	4300	6501	SO:0001583	missense	5257	exon14			GATCAACGTAACG		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.1429C>T	16.37:g.47644802C>T	ENSP00000313504:p.Arg477Cys	Somatic	185	2		WXS	Illumina GAIIx	Phase_I	167	70	NM_000293	0	0	38	75	37	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637895	0.47049	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91521	-2.86;-2.86	4.92	4.92	0.64577	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.58970	0.849;0.738	D	0.93489	0.6834	10	0.45353	T	0.12	-11.8363	13.6642	0.62384	0.0:1.0:0.0:0.0	.	477;470	Q93100;Q93100-4	KPBB_HUMAN;.	C	470;470;477	ENSP00000414345:R470C;ENSP00000313504:R477C	ENSP00000299167:R470C	R	+	1	0	PHKB	46202303	1.000000	0.71417	0.392000	0.26245	0.066000	0.16364	3.363000	0.52321	2.283000	0.76528	0.650000	0.86243	CGT	.		0.358	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			T	47644802	C	T	47644802	3	4	27	1	0	0	0	0	1	0	0	0	11884	536	19	1	1542	1	PHKB	16	47644802	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	710113	47644802	42709951	277	4837											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	27	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9918002	57562804	32791949	278	4838											
KATNB1	10300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57775658	57775658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcaaagcctccgggCggctgctggctacaggcggg	18	12	0	0	rs371850267		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:57775658C>T	ENST00000379661.3	+	3	492	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCCTCCGGGCGGCTGCTGGC	0.652																																					p.R34W		.											.	KATNB1-90	0			c.C100T						.	C	TRP/ARG	0,4396		0,0,2198	49	44	46		100	3	1	16		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	KATNB1	NM_005886.2	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	34/656	57775658	1,12995	2198	4300	6498	SO:0001583	missense	10300	exon3			TCCGGGCGGCTGC	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.100C>T	16.37:g.57775658C>T	ENSP00000368982:p.Arg34Trp	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	189	24	NM_005886	0	0	34	44	10		Missense_Mutation	SNP	ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.523321	0.85600	0.0	1.16E-4	ENSG00000140854	ENST00000379661	T	0.61040	0.14	5.01	3.0	0.34707	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	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76435	-0.2960	10	0.87932	D	0	-0.0921	12.73	0.57193	0.2991:0.7009:0.0:0.0	.	34	Q9BVA0	KTNB1_HUMAN	W	34	ENSP00000368982:R34W	ENSP00000368982:R34W	R	+	1	2	KATNB1	56333159	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	3.786000	0.55431	0.482000	0.27582	0.655000	0.94253	CGG	.		0.652	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			T	57775658	C	T	57775658	3	4	27	1	0	0	0	0	1	0	0	0	8014	759	27	1	106	1	KATNB1	16	57775658	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	212854	57775658	32579095	279	4839											
CDH16	1014	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	66944294	66944294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcaagccatggtcttggCggggtgtgcagaggtattgg	17	7	2	1	rs565441011		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:66944294C>T	ENST00000299752.4	-	15	2229	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.R657H|CDH16_ENST00000570262.1_Missense_Mutation_p.R599H|CDH16_ENST00000568632.1_Missense_Mutation_p.R582H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	679	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATGGTCTTGGCGGGGTGTGCA	0.637																																					p.R679H		.											.	CDH16-93	0			c.G2036A						.						106	108	107					16																	66944294		2200	4300	6500	SO:0001583	missense	1014	exon15			TCTTGGCGGGGTG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2036G>A	16.37:g.66944294C>T	ENSP00000299752:p.Arg679His	Somatic	130	2		WXS	Illumina GAIIx	Phase_I	177	93	NM_004062	0	0	0	0	0	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939245	0.52972	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.56103	0.48;0.48	4.31	4.31	0.51392	.	0.067568	0.56097	D	0.000025	T	0.65790	0.2725	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.67382	0.951;0.77;0.931	T	0.64812	-0.6319	10	0.40728	T	0.16	-14.5469	12.4598	0.55725	0.0:1.0:0.0:0.0	.	657;679;679	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	H	657;679;643	ENSP00000377619:R657H;ENSP00000299752:R679H	ENSP00000299752:R679H	R	-	2	0	CDH16	65501795	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	2.968000	0.49224	2.419000	0.82065	0.455000	0.32223	CGC	.		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		T	66944294	C	T	66944294	3	4	27	1	0	0	0	0	1	0	0	0	3108	768	27	1	469	1	CDH16	16	66944294	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9168636	66944294	23410459	280	4840											
CDH16	1014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	66946627	66946627	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgttctggcctgctcGgagtgggagcacccccagcg	15	13	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:66946627G>A	ENST00000299752.4	-	10	1415	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	CDH16_ENST00000565796.1_Nonsense_Mutation_p.R408*|CDH16_ENST00000394055.3_Nonsense_Mutation_p.R408*|CDH16_ENST00000570262.1_Nonsense_Mutation_p.R328*|CDH16_ENST00000568632.1_Nonsense_Mutation_p.R311*	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGCCTGCTCGGAGTGGGAGC	0.647																																					p.R408X		.											.	CDH16-93	0			c.C1222T						.						58	56	57					16																	66946627		2200	4300	6500	SO:0001587	stop_gained	1014	exon10			CTGCTCGGAGTGG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1222C>T	16.37:g.66946627G>A	ENSP00000299752:p.Arg408*	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	183	79	NM_004062	0	0	0	0	0	B4DPA8|H3BPD3|Q6UW93	Nonsense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585003	0.28268	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	.	.	.	4.98	2.84	0.33178	.	0.828477	0.10955	N	0.615672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	2.5346	8.7277	0.34480	0.0:0.1629:0.6695:0.1676	.	.	.	.	X	408;408;372	.	ENSP00000299752:R408X	R	-	1	2	CDH16	65504128	0.877000	0.30153	0.039000	0.18376	0.006000	0.05464	1.853000	0.39358	1.213000	0.43380	0.561000	0.74099	CGA	.		0.647	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		A	66946627	G	A	66946627	4	1	27	1	0	0	0	0	0	1	0	0	3108	1124	39	1	1303	1	CDH16	16	66946627	Nonsense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2333	66946627	23408126	281	4841											
C16orf48	84080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67697371	67697371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggttctcaggcatgcGcgtgtggcctgggggcatgg	18	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:67697371G>A	ENST00000243878.4	-	6	1153	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602644.1_Missense_Mutation_p.A223V|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	278	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											TCAGGCATGCGCGTGTGGCCT	0.697																																					p.R278C		.											.	.	0			c.C832T						.						36	42	40					16																	67697371		2198	4300	6498	SO:0001583	missense	84080	exon6			GCATGCGCGTGTG	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.832C>T	16.37:g.67697371G>A	ENSP00000243878:p.Arg278Cys	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	97	42	NM_032140	0	0	22	52	30	Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.180441	0.38511	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.72	0.0755	0.14399	.	0.715599	0.13932	N	0.352803	T	0.22085	0.0532	N	0.24115	0.695	0.09310	N	1	D;D	0.64830	0.975;0.994	P;P	0.49953	0.471;0.627	T	0.09952	-1.0651	9	0.38643	T	0.18	-11.4712	3.9607	0.09409	0.2637:0.0:0.3527:0.3836	.	278;160	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	C	278	.	ENSP00000243878:R278C	R	-	1	0	C16orf48	66254872	0.000000	0.05858	0.162000	0.22713	0.558000	0.35554	0.469000	0.22067	0.218000	0.20820	-0.275000	0.10095	CGC	.		0.697	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		A	67697371	G	A	67697371	3	1	27	1	0	0	0	0	1	0	0	0	1821	1087	38	1	216	1	C16orf48	16	67697371	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	750744	67697371	22657382	282	4842											
CDH3	1001	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	68732181	68732181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcggctccgacgccGcgtccctgagctccctcacc	12	19	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:68732181G>A	ENST00000264012.4	+	16	2912	c.2368G>A	c.(2368-2370)Gcg>Acg	p.A790T	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.A735T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	790	Ser-rich.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A790T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTCCGACGCCGCGTCCCTGAG	0.607																																					p.A790T		.											.	CDH3-950	3	Unknown(2)|Substitution - Missense(1)	breast(2)|large_intestine(1)	c.G2368A						.						100	99	99					16																	68732181		2198	4300	6498	SO:0001583	missense	1001	exon16			GACGCCGCGTCCC	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2368G>A	16.37:g.68732181G>A	ENSP00000264012:p.Ala790Thr	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	221	13	NM_001793	0	0	2	2	0	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414864	0.42817	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.76709	-1.04	5.51	2.48	0.30137	Cadherin, cytoplasmic domain (1);	0.178051	0.27056	N	0.021147	T	0.60077	0.2241	N	0.20685	0.6	0.39067	D	0.960645	B	0.33637	0.42	B	0.31495	0.131	T	0.57573	-0.7788	10	0.54805	T	0.06	.	7.9203	0.29841	0.1383:0.1342:0.7275:0.0	.	790	P22223	CADH3_HUMAN	T	790;735	ENSP00000264012:A790T	ENSP00000264012:A790T	A	+	1	0	CDH3	67289682	0.946000	0.32159	0.498000	0.27564	0.243000	0.25628	3.120000	0.50430	0.373000	0.24621	-0.794000	0.03295	GCG	.		0.607	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		A	68732181	G	A	68732181	3	1	27	1	0	0	0	0	1	0	0	0	3118	1087	38	1	2430	1	CDH3	16	68732181	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1034810	68732181	21622572	283	4843											
COG8	84342	bcgsc.ca;mdanderson.org	37	chr16	69373210	69373210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtagttagcgaaggcCaagtcgcgcgtctgctgcag	14	10	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:69373210C>T	ENST00000306875.4	-	1	360	c.246G>A	c.(244-246)ttG>ttA	p.L82L	COG8_ENST00000562081.1_Silent_p.L82L|NIP7_ENST00000254941.6_5'Flank|NIP7_ENST00000569637.2_5'Flank|NIP7_ENST00000254940.5_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	82					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TAGCGAAGGCCAAGTCGCGCG	0.721																																					p.L82L		.											.	COG8-91	0			c.G246A						.						12	14	14					16																	69373210		2150	4221	6371	SO:0001819	synonymous_variant	84342	exon1			GAAGGCCAAGTCG	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.246G>A	16.37:g.69373210C>T		Somatic	30	1		WXS	Illumina GAIIx	Phase_I	72	38	NM_032382	0	0	3	11	8	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	CCDS10876.1																																																																																			.		0.721	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		T	69373210	C	T	69373210	2	4	27	1	0	0	0	0	0	0	0	1	3671	593	21	3		3	COG8	16	69373210	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	641029	69373210	20981543	284	4844											
HPR	3250	ucsc.edu;bcgsc.ca	37	chr16	72108240	72108240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtggagcacttgtttcGctaccagtgtaagaactact	9	9	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:72108240G>A	ENST00000540303.2	+	3	181	c.149G>A	c.(148-150)cGc>cAc	p.R50H	HPR_ENST00000561690.1_Missense_Mutation_p.R50H|HPR_ENST00000356967.5_Missense_Mutation_p.R50H|HPR_ENST00000228226.8_Missense_Mutation_p.R87H	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	50	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CACTTGTTTCGCTACCAGTGT	0.483																																					p.R50H		.											.	HPR-515	0			c.G149A						.						216	133	160					16																	72108240		1966	4141	6107	SO:0001583	missense	3250	exon3			TGTTTCGCTACCA	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.149G>A	16.37:g.72108240G>A	ENSP00000441828:p.Arg50His	Somatic	932	3		WXS	Illumina GAIIx	Phase_I	1231	546	NM_020995	0	0	0	1	1	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	G	5.615	0.298255	0.10622	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.50001	0.76;0.76;0.76	2.4	1.41	0.22369	Complement control module (2);	0.214502	0.30365	N	0.009800	T	0.34745	0.0908	L	0.55743	1.74	0.09310	N	1	B	0.28208	0.203	B	0.20955	0.032	T	0.16276	-1.0408	10	0.36615	T	0.2	.	5.334	0.15947	0.1757:0.0:0.8243:0.0	.	50	P00739	HPTR_HUMAN	H	50;50;87	ENSP00000349451:R50H;ENSP00000441828:R50H;ENSP00000228226:R87H	ENSP00000228226:R87H	R	+	2	0	HP	70665741	0.947000	0.32204	0.028000	0.17463	0.021000	0.10359	1.233000	0.32648	0.331000	0.23511	-1.026000	0.02426	CGC	.		0.483	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		A	72108240	G	A	72108240	3	1	27	1	0	0	0	0	1	0	0	0	7364	1087	38	1	159	1	HPR	16	72108240	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2735030	72108240	18246513	285	4845											
GLG1	2734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	74491779	74491779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagacttacgacgcccGcggccaggggtgatggctgc	15	13	0	2	rs148460697	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:74491779G>A	ENST00000422840.2	-	24	3257	c.3258C>T	c.(3256-3258)cgC>cgT	p.R1086R	GLG1_ENST00000205061.5_Silent_p.R1086R|RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000447066.2_Silent_p.R1075R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1086					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						TACGACGCCCGCGGCCAGGGG	0.517																																					p.R1086R		.											.	GLG1-136	0			c.C3258T						.	G	,,	1,4395	2.1+/-5.4	0,1,2197	132	119	123		3225,3258,3258	-11.6	0.2	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GLG1	NM_001145666.1,NM_001145667.1,NM_012201.5	,,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,,	1075/1193,1086/1180,1086/1204	74491779	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	2734	exon24			ACGCCCGCGGCCA		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.3258C>T	16.37:g.74491779G>A		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	251	47	NM_001145667	0	0	1	1	0	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																			G|1.000;A|0.000		0.517	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74491779	G	A	74491779	2	1	27	1	0	0	0	0	0	0	0	1	6462	1074	38	1		1	GLG1	16	74491779	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2383539	74491779	15862974	286	4846											
KARS	3735	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	75665701	75665701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatcaatcccctcattcCggaactggcgtccaatttca	5	14	4	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:75665701C>T	ENST00000302445.3	-	8	1007	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	KARS_ENST00000319410.5_Missense_Mutation_p.R351Q|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	323					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCCCTCATTCCGGAACTGGCG	0.463																																					p.R351Q		.											.	KARS-92	0			c.G1052A						.						213	194	201					16																	75665701		2198	4300	6498	SO:0001583	missense	3735	exon9			TCATTCCGGAACT	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.968G>A	16.37:g.75665701C>T	ENSP00000303043:p.Arg323Gln	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	234	108	NM_001130089	0	0	101	197	96	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851037	0.97023	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.97404	-4.37;-4.37	6.03	6.03	0.97812	Lysyl-tRNA synthetase, class II, C-terminal (1);Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99952	5.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.937	D	0.97929	1.0319	10	0.87932	D	0	-18.1097	19.1349	0.93424	0.0:1.0:0.0:0.0	.	351;323	Q15046-2;Q15046	.;SYK_HUMAN	Q	351;323	ENSP00000325448:R351Q;ENSP00000303043:R323Q	ENSP00000303043:R323Q	R	-	2	0	KARS	74223202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	CGG	.		0.463	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75665701	C	T	75665701	3	4	27	1	0	0	0	0	1	0	0	0	8007	652	23	1	853	1	KARS	16	75665701	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1173922	75665701	14689052	287	4847											
KIAA0182	23199	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	85699630	85699630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagaagccggttggtgTtgctgcttccttgtctgaca	14	8	1	2	rs17853763		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:85699630T>C	ENST00000253458.7	+	13	2983	c.2807T>C	c.(2806-2808)gTt>gCt	p.V936A	GSE1_ENST00000405402.2_Missense_Mutation_p.V832A|GSE1_ENST00000393243.1_Missense_Mutation_p.V863A	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	936			V -> A (in dbSNP:rs17853763). {ECO:0000269|PubMed:15489334}.														CCGGTTGGTGTTGCTGCTTCC	0.547																																					p.V936A		.											.	.	0			c.T2807C						.						49	53	51					16																	85699630		2198	4300	6498	SO:0001583	missense	23199	exon13			TTGGTGTTGCTGC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2807T>C	16.37:g.85699630T>C	ENSP00000253458:p.Val936Ala	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	145	8	NM_014615	0	0	22	22	0	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	1.276	-0.611780	0.03690	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.30182	1.54;1.54;1.54	5.52	2.86	0.33363	.	1.095190	0.06892	N	0.804456	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B;P;P;P	0.44241	0.087;0.829;0.829;0.737	B;B;B;B	0.38264	0.033;0.173;0.269;0.138	T	0.10132	-1.0643	10	0.22706	T	0.39	-1.9593	7.712	0.28684	0.0:0.0821:0.1415:0.7764	rs17853763	699;832;863;936	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	A	832;936;863	ENSP00000384839:V832A;ENSP00000253458:V936A;ENSP00000376934:V863A	ENSP00000253458:V936A	V	+	2	0	KIAA0182	84257131	0.049000	0.20398	0.001000	0.08648	0.030000	0.12068	1.745000	0.38278	0.887000	0.36136	0.459000	0.35465	GTT	T|1.000;|0.000		0.547	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		C	85699630	T	C	85699630	3	2	27	1	0	0	0	0	1	0	0	0	8186	1725	60	4	2857	4	KIAA0182	16	85699630	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	10033929	85699630	4655123	288	4848											
FOXC2	2303	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr16	86602305	86602305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgtgcgggagatgttcaActcccaccggctggggattg	14	11	1	1	rs138612549	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:86602305A>G	ENST00000320354.4	+	1	1449	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	455					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GAGATGTTCAACTCCCACCGG	0.632									Late-onset Hereditary Lymphedema				A|||	10	0.00199681	0.0076	0	5008	,	,		10518	0		0	False		,,,				2504	0				p.N455S		.											.	FOXC2-226	0			c.A1364G						.	A	SER/ASN	2,4376		0,2,2187	34	35	35		1364	-3.4	1	16	dbSNP_134	35	0,8570		0,0,4285	yes	missense	FOXC2	NM_005251.2	46	0,2,6472	GG,GA,AA		0.0,0.0457,0.0154	benign	455/502	86602305	2,12946	2189	4285	6474	SO:0001583	missense	2303	exon1	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	TGTTCAACTCCCA	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1364A>G	16.37:g.86602305A>G	ENSP00000326371:p.Asn455Ser	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	196	100	NM_005251	0	0	1	1	0	C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	CCDS10958.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	A	10.99	1.506851	0.26949	4.57E-4	0.0	ENSG00000176692	ENST00000320354	T	0.76186	-1.0	4.35	-3.38	0.04883	.	423.213000	0.00166	N	0.000000	T	0.42743	0.1216	N	0.19112	0.55	0.30142	N	0.803829	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.59425	D	0.04	.	5.9927	0.19476	0.436:0.2396:0.3245:0.0	.	455	Q99958	FOXC2_HUMAN	S	455	ENSP00000326371:N455S	ENSP00000326371:N455S	N	+	2	0	FOXC2	85159806	1.000000	0.71417	0.976000	0.42696	0.919000	0.55068	1.954000	0.40362	-0.796000	0.04456	0.379000	0.24179	AAC	A|0.998;G|0.002		0.632	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		G	86602305	A	G	86602305	3	3	27	1	0	0	0	0	1	0	0	0	6017	43	2	4	1366	4	FOXC2	16	86602305	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	902675	86602305	3752448	289	4849											
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	89346959	89346959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagagtggagggggtcCgcggggcagaaacgctttgg	21	8	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:89346959C>T	ENST00000301030.4	-	9	6451	c.5991G>A	c.(5989-5991)gcG>gcA	p.A1997A	ANKRD11_ENST00000378330.2_Silent_p.A1997A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1997	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAGGGGGTCCGCGGGGCAGA	0.701																																					p.A1997A		.											.	ANKRD11-139	0			c.G5991A						.						12	15	14					16																	89346959		2071	4024	6095	SO:0001819	synonymous_variant	29123	exon9			GGGGTCCGCGGGG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5991G>A	16.37:g.89346959C>T		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	70	34	NM_001256183	0	0	7	15	8	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																			.		0.701	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89346959	C	T	89346959	2	4	27	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89346959	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2744654	89346959	1007794	290	4850											
SPG7	6687	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	89611117	89611117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgagctgacattttggaCggtgctctgatgaggccagg	14	9	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr16:89611117C>T	ENST00000268704.2	+	10	1401	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	462					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACATTTTGGACGGTGCTCTGA	0.612																																					p.D462D		.											.	SPG7-226	0			c.C1386T						.						160	127	138					16																	89611117		2198	4300	6498	SO:0001819	synonymous_variant	6687	exon10			TTTGGACGGTGCT	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1386C>T	16.37:g.89611117C>T		Somatic	200	1		WXS	Illumina GAIIx	Phase_I	283	127	NM_003119	0	0	52	100	48	O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	CCDS10977.1																																																																																			.		0.612	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		T	89611117	C	T	89611117	2	4	27	1	0	0	0	0	0	0	0	1	15091	535	19	1		1	SPG7	16	89611117	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	264158	89611117	743636	291	4851											
PRPF8	10594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	1561614	1561614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaacagctgccctgtgCgtgggttgaagatgaagatg	16	6	0	5			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:1561614C>T	ENST00000572621.1	-	33	5703	c.5438G>A	c.(5437-5439)cGc>cAc	p.R1813H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1813H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1813	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCCCTGTGCGTGGGTTGAA	0.527																																					p.R1813H		.											.	PRPF8-525	0			c.G5438A						.						174	161	165					17																	1561614		2203	4300	6503	SO:0001583	missense	10594	exon34			CCTGTGCGTGGGT	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5438G>A	17.37:g.1561614C>T	ENSP00000460348:p.Arg1813His	Somatic	324	0		WXS	Illumina GAIIx	Phase_I	172	161	NM_006445	0	0	1	118	117	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	35	5.498706	0.96355	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.81163	-1.46	6.03	6.03	0.97812	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88820	0.3298	10	0.41790	T	0.15	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1813	Q6P2Q9	PRP8_HUMAN	H	1813;338	ENSP00000304350:R1813H	ENSP00000304350:R1813H	R	-	2	0	PRPF8	1508364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	CGC	.		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			T	1561614	C	T	1561614	3	4	27	1	0	0	0	0	1	0	0	0	12617	768	27	1	1609	1	PRPF8	17	1561614	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		1561614	79633596	292	4852											
SGSM2	9905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	2265553	2265553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcgtgcaatacctggcGgaaaactgcaggtgaccgcc	13	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:2265553G>A	ENST00000426855.2	+	4	622	c.447G>A	c.(445-447)gcG>gcA	p.A149A	SGSM2_ENST00000574563.1_Silent_p.A149A|SGSM2_ENST00000268989.3_Silent_p.A149A	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	149	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AATACCTGGCGGAAAACTGCA	0.617																																					p.A149A		.											.	SGSM2-68	0			c.G447A						.						79	81	81					17																	2265553		2203	4300	6503	SO:0001819	synonymous_variant	9905	exon4			CCTGGCGGAAAAC	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.447G>A	17.37:g.2265553G>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	70	66	NM_001098509	0	0	0	0	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																			.		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		A	2265553	G	A	2265553	2	1	27	1	0	0	0	0	0	0	0	1	14268	1103	39	1		1	SGSM2	17	2265553	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	703939	2265553	78929657	293	4853											
KIAA0664	23277	broad.mit.edu	37	chr17	2598787	2598787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcgttgccccgtccaCgggcaggaccgcgtgctcca	13	17	0	0	rs368772841		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:2598787C>T	ENST00000570628.2	-	14	2413	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	CLUH_ENST00000435359.1_Missense_Mutation_p.V770M|CLUH_ENST00000538975.1_Missense_Mutation_p.V770M			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	770					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GCCCCGTCCACGGGCAGGACC	0.692													C|||	1	0.000199681	0	0.0014	5008	,	,		15753	0		0	False		,,,				2504	0				p.V770M		.											.	.	0			c.G2308A						.						16	19	18					17																	2598787		2147	4243	6390	SO:0001583	missense	23277	exon14			CGTCCACGGGCAG	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.2308G>A	17.37:g.2598787C>T	ENSP00000458986:p.Val770Met	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	59	4	NM_015229	0	0	30	31	1	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327471	0.01309	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.79141	-1.24;-1.24	5.24	3.03	0.35002	.	0.041945	0.85682	N	0.000000	T	0.40119	0.1104	N	0.00633	-1.31	0.27693	N	0.946061	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.43343	-0.9397	10	0.02654	T	1	.	8.6347	0.33941	0.0:0.1565:0.0:0.8435	.	770;771	O75153;C9J6D7	K0664_HUMAN;.	M	770;771;770	ENSP00000388872:V770M;ENSP00000439628:V770M	ENSP00000320468:V771M	V	-	1	0	KIAA0664	2545537	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.860000	0.62961	0.341000	0.23771	-0.458000	0.05436	GTG	.		0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		T	2598787	C	T	2598787	3	4	27	1	0	0	0	0	1	0	0	0	8216	536	19	1	1673	1	KIAA0664	17	2598787	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	333234	2598787	78596423	294	4854											
ATP2A3	489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	3840801	3840801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctccaccgcagccaCgatggaggcaaagttgtcat	10	15	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:3840801C>T	ENST00000352011.3	-	15	2284	c.2230G>A	c.(2230-2232)Gtg>Atg	p.V744M	ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V744M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V744M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V744M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V744M|ATP2A3_ENST00000309890.7_Missense_Mutation_p.V744M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	744					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)		ACCGCAGCCACGATGGAGGCA	0.602																																					p.V744M	GBM(32;29 774 15719 37967)	.											.	ATP2A3-156	0			c.G2230A						.						95	71	79					17																	3840801		2203	4300	6503	SO:0001583	missense	489	exon15			CAGCCACGATGGA		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.2230G>A	17.37:g.3840801C>T	ENSP00000301387:p.Val744Met	Somatic	314	1		WXS	Illumina GAIIx	Phase_I	144	136	NM_174956	0	0	1	1	0	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549194	0.86127	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	4.17	4.17	0.49024	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	H	0.96996	3.92	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;0.996;0.991;0.996;0.996;0.996	D	0.98370	1.0553	10	0.87932	D	0	.	16.7406	0.85458	0.0:1.0:0.0:0.0	.	744;744;744;744;744;744	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	744	ENSP00000380236:V744M;ENSP00000301387:V744M;ENSP00000353072:V744M;ENSP00000380234:V744M;ENSP00000312577:V744M;ENSP00000380229:V744M	ENSP00000312577:V744M	V	-	1	0	ATP2A3	3787550	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.651000	0.83577	2.607000	0.88179	0.563000	0.77884	GTG	.		0.602	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3840801	C	T	3840801	3	4	27	1	0	0	0	0	1	0	0	0	1139	536	19	1	1008	1	ATP2A3	17	3840801	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1242014	3840801	77354409	295	4855											
AIPL1	23746	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	6329050	6329050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccgccttctgcatggaCggctccagctccagcacttt	9	17	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:6329050C>T	ENST00000381129.3	-	6	965	c.885G>A	c.(883-885)ccG>ccA	p.P295P	AIPL1_ENST00000576307.1_Silent_p.P235P|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Silent_p.P283P|AIPL1_ENST00000576776.1_Silent_p.P271P|AIPL1_ENST00000250087.5_Silent_p.P232P|AIPL1_ENST00000570466.1_Silent_p.P273P	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	295					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCTGCATGGACGGCTCCAGCT	0.662																																					p.P295P		.											.	AIPL1-90	0			c.G885A						.						38	36	37					17																	6329050		2203	4300	6503	SO:0001819	synonymous_variant	23746	exon6			CATGGACGGCTCC	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.885G>A	17.37:g.6329050C>T		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	60	56	NM_014336	0	0	0	0	0	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	CCDS11075.1																																																																																			.		0.662	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		T	6329050	C	T	6329050	2	4	27	1	0	0	0	0	0	0	0	1	436	523	19	1		1	AIPL1	17	6329050	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2488249	6329050	74866160	296	4856											
KIAA0753	9851	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	6528100	6528100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggaggacgtagagcattCgggcagagcgagcagcttgc	17	9	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:6528100C>T	ENST00000361413.3	-	4	1158	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	KIAA0753_ENST00000542606.1_Intron|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	267						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTAGAGCATTCGGGCAGAGCG	0.458																																					p.R267Q		.											.	KIAA0753-90	0			c.G800A						.						50	51	50					17																	6528100		2016	4174	6190	SO:0001583	missense	9851	exon4			AGCATTCGGGCAG		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.800G>A	17.37:g.6528100C>T	ENSP00000355250:p.Arg267Gln	Somatic	87	1		WXS	Illumina GAIIx	Phase_I	62	58	NM_014804	0	0	0	0	0	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647095	0.87958	.	.	ENSG00000198920	ENST00000361413	T	0.10192	2.9	5.2	4.17	0.49024	.	0.136711	0.50627	D	0.000115	T	0.29716	0.0742	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.00722	-1.1594	10	0.44086	T	0.13	-13.3315	13.5877	0.61942	0.1553:0.8447:0.0:0.0	.	267	Q2KHM9	K0753_HUMAN	Q	267	ENSP00000355250:R267Q	ENSP00000355250:R267Q	R	-	2	0	KIAA0753	6468824	0.989000	0.36119	0.989000	0.46669	0.998000	0.95712	2.747000	0.47475	2.608000	0.88229	0.650000	0.86243	CGA	.		0.458	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		T	6528100	C	T	6528100	3	4	27	1	0	0	0	0	1	0	0	0	8218	884	31	1	2167	1	KIAA0753	17	6528100	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	199050	6528100	74667110	297	4857											
TP53	7157	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7574017	7574017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcggaacatctcgaagCgctcacgcccacggatctgc	10	16	4	0	rs121912664		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:7574017C>T	ENST00000269305.4	-	10	1199	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TP53_ENST00000445888.2_Missense_Mutation_p.R337H|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		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.R337H	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	c.G1010A	GRCh37	CM012663	TP53	M	rs121912664	.						57	45	49					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	exon10	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;	TCGAAGCGCTCAC	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.1010G>A	17.37:g.7574017C>T	ENSP00000269305:p.Arg337His	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	97	91	NM_000546	0	0	0	6	6	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	14.54	2.565214	0.45694	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95171	-3.63;-3.63	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.73598	2.24	0.40311	D	0.97871	D	0.53462	0.96	P	0.53146	0.719	D	0.94086	0.7348	10	0.62326	D	0.03	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	H	337;337;326	ENSP00000269305:R337H;ENSP00000391478:R337H	ENSP00000269305:R337H	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7574017	C	T	7574017	3	4	27	1	0	0	0	0	1	0	0	0	16429	768	27	1	179	1	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1045917	7574017	73621193	298	4858											
KDM6B	23135	bcgsc.ca	37	chr17	7751926	7751926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagaagccaccaccaGccctaccaccaccaccgcct	7	19	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:7751926G>T	ENST00000448097.2	+	11	2651	c.2320G>T	c.(2320-2322)Gcc>Tcc	p.A774S	KDM6B_ENST00000254846.5_Missense_Mutation_p.A774S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	774	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						Gccaccaccagccctaccacc	0.662																																					p.A774S		.											.	KDM6B-205	0			c.G2320T						.						59	61	60					17																	7751926		2176	4272	6448	SO:0001583	missense	23135	exon11			CCACCAGCCCTAC	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.2320G>T	17.37:g.7751926G>T	ENSP00000412513:p.Ala774Ser	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	23	4	NM_001080424	0	0	1	1	0	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	G	11.64	1.699531	0.30142	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.10192	2.9;2.9	4.66	3.68	0.42216	.	0.331340	0.24745	N	0.035960	T	0.07773	0.0195	N	0.14661	0.345	0.24481	N	0.99435	B;B	0.25609	0.01;0.13	B;B	0.28709	0.019;0.093	T	0.29397	-1.0013	10	0.33940	T	0.23	-2.3867	14.0285	0.64601	0.0:0.153:0.847:0.0	.	774;774	O15054;O15054-1	KDM6B_HUMAN;.	S	774	ENSP00000254846:A774S;ENSP00000412513:A774S	ENSP00000254846:A774S	A	+	1	0	KDM6B	7692651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	1.308000	0.44962	0.561000	0.74099	GCC	.		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		T	7751926	G	T	7751926	3	4	27	1	0	0	0	0	1	0	0	0	8165	971	34	3	2350	3	KDM6B	17	7751926	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	177909	7751926	73443284	299	4859											
LRRC48	83450	ucsc.edu;bcgsc.ca	37	chr17	17900841	17900841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaaacagcaggagaagCggaaaacagagcttgacacc	12	10	0	4	rs565211645		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:17900841C>T	ENST00000399187.1	+	9	1110	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	LRRC48_ENST00000399182.1_Missense_Mutation_p.R298W|LRRC48_ENST00000584166.1_Missense_Mutation_p.R298W|LRRC48_ENST00000313838.8_Missense_Mutation_p.R298W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R298W	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	298						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGGAGAAGCGGAAAACAGA	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		24275	0		0	False		,,,				2504	0				p.R298W		.											.	LRRC48-46	0			c.C892T						.						91	88	89					17																	17900841		2075	4214	6289	SO:0001583	missense	83450	exon9			GAGAAGCGGAAAA	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.892C>T	17.37:g.17900841C>T	ENSP00000382140:p.Arg298Trp	Somatic	299	3		WXS	Illumina GAIIx	Phase_I	209	186	NM_031294	0	0	0	0	0	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562093	0.45590	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.56	-1.21	0.09524	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.58583	1.82	0.80722	D	1	P;P	0.47409	0.895;0.866	B;B	0.40940	0.144;0.344	T	0.42430	-0.9452	10	0.66056	D	0.02	-30.4086	8.2505	0.31715	0.4336:0.4845:0.0:0.0819	.	298;298	Q9H069;Q9H069-2	LRC48_HUMAN;.	W	298	ENSP00000326870:R298W;ENSP00000394020:R298W;ENSP00000382140:R298W;ENSP00000382136:R298W	ENSP00000326870:R298W	R	+	1	2	LRRC48	17841566	0.998000	0.40836	0.990000	0.47175	0.916000	0.54674	0.289000	0.18957	0.073000	0.16731	-0.254000	0.11334	CGG	.		0.483	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		T	17900841	C	T	17900841	3	4	27	1	0	0	0	0	1	0	0	0	9040	759	27	1	918	1	LRRC48	17	17900841	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	10148915	17900841	63294369	300	4860											
EVPLL	645027	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	18286644	18286644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaccagctggaggaggaCggcaagcgcatggtggagct	17	8	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:18286644C>T	ENST00000399134.4	+	8	1090	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	244										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGAGGAGGACGGCAAGCGCA	0.701																																					p.D244D		.											.	.	0			c.C732T						.						30	37	35					17																	18286644		691	1591	2282	SO:0001819	synonymous_variant	645027	exon8			GGAGGACGGCAAG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.732C>T	17.37:g.18286644C>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	45	44	NM_001145127	0	0	0	0	0	B4DPD4	Silent	SNP	ENST00000399134.4	37	CCDS45626.1																																																																																			.		0.701	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		T	18286644	C	T	18286644	2	4	27	1	0	0	0	0	0	0	0	1	5309	535	19	1		1	EVPLL	17	18286644	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	385803	18286644	62908566	301	4861											
MYO18A	399687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	27419408	27419408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctgcaggtgcaggtcttCgatctccacctccattgctt	8	13	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:27419408C>T	ENST00000527372.1	-	34	5320	c.5140G>A	c.(5140-5142)Gaa>Aaa	p.E1714K	TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1714K|MYO18A_ENST00000529578.1_5'Flank|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1677K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1714K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1714					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)			TGCAGGTCTTCGATCTCCACC	0.617																																					p.E1714K	Esophageal Squamous(182;472 2015 7001 15270 22562)	.											.	MYO18A-22	0			c.G5140A						.						52	58	56					17																	27419408		2203	4296	6499	SO:0001583	missense	399687	exon34			GGTCTTCGATCTC	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.5140G>A	17.37:g.27419408C>T	ENSP00000437073:p.Glu1714Lys	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	66	57	NM_078471	0	0	0	9	9	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647871	0.96714	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88818	-1.16;-2.43;-1.16;-1.16	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.80183	2.485	0.52501	D	0.999958	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.994;0.949	D	0.95047	0.8183	10	0.72032	D	0.01	.	18.722	0.91698	0.0:1.0:0.0:0.0	.	1317;1677;1714;1714	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	K	1714;1677;1677;1714;1714;610;610;1317	ENSP00000346291:E1714K;ENSP00000435932:E1677K;ENSP00000434228:E1714K;ENSP00000437073:E1714K	ENSP00000346291:E1714K	E	-	1	0	MYO18A	24443534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.259000	0.78381	2.604000	0.88044	0.591000	0.81541	GAA	.		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27419408	C	T	27419408	3	4	27	1	0	0	0	0	1	0	0	0	10103	893	31	1	1060	1	MYO18A	17	27419408	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	9132764	27419408	53775802	302	4862											
PIP4K2B	8396	ucsc.edu	37	chr17	36936800	36936800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaggtggtgaggaaacGcgtgccacaccgaccctggc	15	12	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:36936800G>A	ENST00000269554.3	-	4	892	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	138	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						GTGAGGAAACGCGTGCCACAC	0.552																																					p.R138C		.											.	PIP4K2B-266	0			c.C412T						.						106	94	98					17																	36936800		2203	4300	6503	SO:0001583	missense	8396	exon4			GGAAACGCGTGCC	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.412C>T	17.37:g.36936800G>A	ENSP00000269554:p.Arg138Cys	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	106	4	NM_003559	0	0	20	22	2	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177070	0.94846	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.36340	1.26	5.41	4.43	0.53597	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.68621	0.885;0.922;0.959	T	0.64058	-0.6496	10	0.66056	D	0.02	-12.5303	14.1696	0.65500	0.0:0.0:0.849:0.151	.	138;138;138	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	C	138	ENSP00000269554:R138C	ENSP00000269554:R138C	R	-	1	0	PIP4K2B	34190326	1.000000	0.71417	0.602000	0.28890	0.998000	0.95712	6.108000	0.71522	1.485000	0.48380	0.561000	0.74099	CGT	.		0.552	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36936800	G	A	36936800	3	1	27	1	0	0	0	0	1	0	0	0	11976	1087	38	1	866	1	PIP4K2B	17	36936800	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9517392	36936800	44258410	303	4863											
KRT12	3859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39018841	39018841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaatcagttgactgtgCttgtgatttggagtctgtca	13	5	3	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:39018841C>T	ENST00000251643.4	-	7	1386	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	455	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GTTGACTGTGCTTGTGATTTG	0.368																																					p.A455T		.											.	KRT12-91	0			c.G1363A						.						157	147	150					17																	39018841		2203	4300	6503	SO:0001583	missense	3859	exon7			ACTGTGCTTGTGA		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1363G>A	17.37:g.39018841C>T	ENSP00000251643:p.Ala455Thr	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	78	73	NM_000223	0	0	0	0	0	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830535	0.32329	.	.	ENSG00000187242	ENST00000251643	D	0.81908	-1.55	4.71	0.079	0.14414	.	0.419376	0.20328	N	0.094499	T	0.49966	0.1588	N	0.01352	-0.895	0.23528	N	0.997488	B	0.18610	0.029	B	0.15052	0.012	T	0.46707	-0.9172	10	0.12103	T	0.63	.	4.7832	0.13213	0.0:0.3844:0.2736:0.342	.	455	Q99456	K1C12_HUMAN	T	455	ENSP00000251643:A455T	ENSP00000251643:A455T	A	-	1	0	KRT12	36272367	0.342000	0.24809	0.838000	0.33150	0.990000	0.78478	-0.288000	0.08377	-0.006000	0.14370	0.555000	0.69702	GCA	.		0.368	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		T	39018841	C	T	39018841	3	4	27	1	0	0	0	0	1	0	0	0	8476	797	28	3	129	3	KRT12	17	39018841	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2082041	39018841	42176369	304	4864											
KRT32	3882	bcgsc.ca	37	chr17	39619193	39619193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgctccaggtcagccCggatctcagccagctgggcc	12	17	3	0	rs11078993	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:39619193C>T	ENST00000225899.3	-	6	1209	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	369	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R369Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CAGGTCAGCCCGGATCTCAGC	0.642													C|||	597	0.119209	0.053	0.1931	5008	,	,		17508	0.2073		0.0467	False		,,,				2504	0.1401				p.R369Q		.											.	KRT32-90	1	Substitution - Missense(1)	stomach(1)	c.G1106A						.	C	GLN/ARG	272,4134	153.3+/-186.9	9,254,1940	76	74	75		1106	4	0.8	17	dbSNP_120	75	416,8184	130.3+/-188.3	20,376,3904	no	missense	KRT32	NM_002278.3	43	29,630,5844	TT,TC,CC		4.8372,6.1734,5.2899	probably-damaging	369/449	39619193	688,12318	2203	4300	6503	SO:0001583	missense	3882	exon6			TCAGCCCGGATCT	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1106G>A	17.37:g.39619193C>T	ENSP00000225899:p.Arg369Gln	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	119	7	NM_002278	0	0	0	0	0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	227	0.10393772893772894	21	0.042682926829268296	66	0.18232044198895028	105	0.18356643356643357	35	0.04617414248021108	C	18.59	3.656817	0.67586	0.061734	0.048372	ENSG00000108759	ENST00000225899	D	0.91124	-2.79	4.98	4.0	0.46444	Filament (1);	0.000000	0.38436	N	0.001695	T	0.04452	0.0122	M	0.88031	2.925	0.25924	P	0.9830841	D	0.89917	1.0	D	0.97110	1.0	T	0.11916	-1.0568	9	0.87932	D	0	.	13.099	0.59210	0.0:0.9211:0.0:0.0789	rs11078993;rs59123042	369	Q14532	K1H2_HUMAN	Q	369	ENSP00000225899:R369Q	ENSP00000225899:R369Q	R	-	2	0	KRT32	36872719	0.997000	0.39634	0.771000	0.31576	0.291000	0.27294	4.973000	0.63763	1.197000	0.43143	0.491000	0.48974	CGG	C|0.935;T|0.065		0.642	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		T	39619193	C	T	39619193	3	4	27	1	0	0	0	0	1	0	0	0	8495	652	23	1	248	1	KRT32	17	39619193	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	600352	39619193	41576017	305	4865											
PTRF	284119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40574938	40574938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctacggccccgatgatttTgtccaggaggctcagcacca	11	13	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:40574938T>C	ENST00000357037.5	-	1	597	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCGATGATTTTGTCCAGGAGG	0.657																																					p.K60E		.											.	PTRF-153	0			c.A178G						.						53	46	48					17																	40574938		2203	4300	6503	SO:0001583	missense	284119	exon1			TGATTTTGTCCAG	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.178A>G	17.37:g.40574938T>C	ENSP00000349541:p.Lys60Glu	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	137	125	NM_012232	0	0	5	112	107		Missense_Mutation	SNP	ENST00000357037.5	37	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	T	34	5.402701	0.96030	.	.	ENSG00000177469	ENST00000357037	T	0.69926	-0.44	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.989;0.999	D	0.83940	0.0311	10	0.87932	D	0	-12.0638	14.9125	0.70770	0.0:0.0:0.0:1.0	.	60;60	B4DNU9;Q6NZI2	.;PTRF_HUMAN	E	60	ENSP00000349541:K60E	ENSP00000349541:K60E	K	-	1	0	PTRF	37828464	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.927000	0.87577	1.917000	0.55516	0.454000	0.30748	AAA	.		0.657	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		C	40574938	T	C	40574938	3	2	27	1	0	0	0	0	1	0	0	0	12860	1821	63	4	1002	4	PTRF	17	40574938	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	955745	40574938	40620272	306	4866											
HSD17B1	3292	hgsc.bcm.edu	37	chr17	40706906	40706906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggacgaggccgggcgcGgtgcggtgggggaccctgag	22	10	0	2	rs605059	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:40706906G>A	ENST00000585807.1	+	6	4657	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G314S|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	313			G -> S (in dbSNP:rs605059). {ECO:0000269|PubMed:1327779, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2197970, ECO:0000269|PubMed:2330005, ECO:0000269|PubMed:2779584, ECO:0000269|PubMed:2846351, ECO:0000269|PubMed:8389226, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCCGGGCGCGGTGCGGTGGG	0.736													A|||	2617	0.522564	0.4849	0.4942	5008	,	,		11834	0.4534		0.5249	False		,,,				2504	0.6626				p.G313S		.											.	HSD17B1-90	0			c.G937A	GRCh37	CM057951	HSD17B1	M	rs605059	.	A	SER/GLY	2209,1645		683,843,401	3	5	4		937	-1.2	0	17	dbSNP_83	4	4593,3023		1489,1615,704	no	missense	HSD17B1	NM_000413.2	56	2172,2458,1105	AA,AG,GG		39.6928,42.6829,40.6975	benign	313/329	40706906	6802,4668	1927	3808	5735	SO:0001583	missense	3292	exon6			GGGCGCGGTGCGG		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.937G>A	17.37:g.40706906G>A	ENSP00000466799:p.Gly313Ser	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000413	0	0	0	0	0	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	1065	0.4876373626373626	249	0.5060975609756098	161	0.4447513812154696	257	0.4493006993006993	398	0.525065963060686	A	1.679	-0.506941	0.04231	0.573171	0.603072	ENSG00000108786	ENST00000225929	.	.	.	0.605	-1.21	0.09524	.	15.510600	0.00792	N	0.001347	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49916	-0.8888	7	0.15952	T	0.53	.	.	.	.	rs605059;rs58087383	344;313	B3RFR9;P14061	.;DHB1_HUMAN	S	313	.	ENSP00000225929:G313S	G	+	1	0	HSD17B1	37960432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.026000	0.03596	-2.560000	0.00474	-1.912000	0.00520	GGT	G|0.505;A|0.495		0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		A	40706906	G	A	40706906	3	1	27	1	0	0	0	0	1	0	0	0	7405	1116	39	1	959	1	HSD17B1	17	40706906	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	131968	40706906	40488304	307	4867											
ASB16	92591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42254580	42254580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgctggactacggggcGcagccagtgcgccctgaggt	16	13	0	1	rs375260670		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:42254580G>A	ENST00000293414.1	+	3	1128	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	348					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)		ACTACGGGGCGCAGCCAGTGC	0.687																																					p.A348A		.											.	ASB16-227	0			c.G1044A						.	G	,VAL/ALA	0,3540		0,0,1770	2	3	3		1044,41	-2.5	1	17		3	1,7339		0,1,3669	no	coding-synonymous,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	,64	0,1,5439	AA,AG,GG		0.0136,0.0,0.0092	,benign	348/454,14/194	42254580	1,10879	1770	3670	5440	SO:0001819	synonymous_variant	92591	exon3			CGGGGCGCAGCCA	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.1044G>A	17.37:g.42254580G>A		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	33	11	NM_080863	0	0	5	6	1	B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701195	0.30142	0.0	1.36E-4	ENSG00000168597	ENST00000303061	.	.	.	4.95	-2.47	0.06442	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11470	-1.0586	8	0.87932	D	0	-17.2706	0.5154	0.00602	0.3987:0.2047:0.131:0.2656	.	14	Q495Z4	CQ065_HUMAN	V	14	.	ENSP00000366342:A14V	A	-	2	0	C17orf65	39610106	0.000000	0.05858	0.964000	0.40570	0.775000	0.43874	-1.181000	0.03085	-0.229000	0.09854	-0.235000	0.12190	GCG	.		0.687	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			A	42254580	G	A	42254580	2	1	27	1	0	0	0	0	0	0	0	1	1021	1087	38	1		1	ASB16	17	42254580	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1547674	42254580	38940630	308	4868											
NGFR	4804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	47590175	47590175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacctggcggcacctggCgggcgagctgggctaccagc	17	14	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:47590175C>T	ENST00000172229.3	+	6	1213	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	NGFR_ENST00000504201.1_Missense_Mutation_p.A269V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	363	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGGCACCTGGCGGGCGAGCTG	0.682																																					p.A363V		.											.	NGFR-947	0			c.C1088T						.						45	52	50					17																	47590175		2201	4297	6498	SO:0001583	missense	4804	exon6			ACCTGGCGGGCGA	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1088C>T	17.37:g.47590175C>T	ENSP00000172229:p.Ala363Val	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	204	95	NM_002507	0	0	0	0	0	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862620	0.91511	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.95171	-3.63;-3.63	4.21	4.21	0.49690	Death (3);DEATH-like (2);	0.062431	0.64402	D	0.000007	D	0.94456	0.8216	M	0.77103	2.36	0.58432	D	0.999998	P	0.52842	0.956	P	0.45881	0.496	D	0.94040	0.7308	10	0.37606	T	0.19	-32.9449	15.4986	0.75677	0.0:1.0:0.0:0.0	.	363	P08138	TNR16_HUMAN	V	363;269	ENSP00000172229:A363V;ENSP00000421731:A269V	ENSP00000172229:A363V	A	+	2	0	NGFR	44945174	1.000000	0.71417	0.924000	0.36721	0.917000	0.54804	5.665000	0.68052	2.160000	0.67779	0.561000	0.74099	GCG	.		0.682	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			T	47590175	C	T	47590175	3	4	27	1	0	0	0	0	1	0	0	0	10435	768	27	1	1110	1	NGFR	17	47590175	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5335595	47590175	33605035	309	4869											
ABCC3	8714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48741343	48741343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaactcagtcaaacgtgcGtccactgtgggggaaattgt	11	10	2	0	rs191057975	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:48741343G>A	ENST00000285238.8	+	10	1289	c.1209G>A	c.(1207-1209)gcG>gcA	p.A403A	ABCC3_ENST00000427699.1_Silent_p.A403A	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	403	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCAAACGTGCGTCCACTGTGG	0.577													G|||	2	0.000399361	0.0015	0	5008	,	,		20747	0		0	False		,,,				2504	0				p.A403A		.											.	ABCC3-93	0			c.G1209A						.	G	,	2,4404	4.2+/-10.8	0,2,2201	151	125	134		1209,1209	0.3	0.8	17		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC3	NM_001144070.1,NM_003786.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	403/573,403/1528	48741343	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8714	exon10			ACGTGCGTCCACT	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.1209G>A	17.37:g.48741343G>A		Somatic	298	0		WXS	Illumina GAIIx	Phase_I	104	93	NM_003786	0	0	0	2	2	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1																																																																																			G|0.999;A|0.001		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48741343	G	A	48741343	2	1	27	1	0	0	0	0	0	0	0	1	54	1132	40	1		1	ABCC3	17	48741343	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1151168	48741343	32453867	310	4870											
KIAA0195	9772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73484865	73484865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcacatcgtcctggagcCgggagacctcttccccccct	10	18	1	1	rs377628467		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:73484865C>T	ENST00000314256.7	+	7	1032	c.638C>T	c.(637-639)cCg>cTg	p.P213L	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P223L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	213						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)			GTCCTGGAGCCGGGAGACCTC	0.622																																					p.P213L		.											.	KIAA0195-91	0			c.C638T						.	C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	74	80	78		638	5.2	1	17		78	0,8600		0,0,4300	no	missense	KIAA0195	NM_014738.4	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	213/1357	73484865	1,13005	2203	4300	6503	SO:0001583	missense	9772	exon7			TGGAGCCGGGAGA		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.638C>T	17.37:g.73484865C>T	ENSP00000313885:p.Pro213Leu	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	49	40	NM_014738	1	0	1	17	15	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518578	0.64634	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.45276	0.91;0.9	5.23	5.23	0.72850	.	0.057513	0.64402	D	0.000001	T	0.36110	0.0955	L	0.29908	0.895	0.80722	D	1	B;B	0.21309	0.054;0.027	B;B	0.17098	0.017;0.009	T	0.15150	-1.0447	10	0.59425	D	0.04	-28.6168	18.4127	0.90558	0.0:1.0:0.0:0.0	.	223;213	C9JL75;Q12767	.;K0195_HUMAN	L	213;223	ENSP00000313885:P213L;ENSP00000364397:P223L	ENSP00000313885:P213L	P	+	2	0	KIAA0195	70996460	1.000000	0.71417	0.955000	0.39395	0.837000	0.47467	7.388000	0.79795	2.440000	0.82611	0.549000	0.68633	CCG	.		0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		T	73484865	C	T	73484865	3	4	27	1	0	0	0	0	1	0	0	0	8187	652	23	1	660	1	KIAA0195	17	73484865	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	24743522	73484865	7710345	311	4871											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76570839	76570839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgggtgtggggctgaTgtcgccgtaaaggagccggg	19	9	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:76570839T>C	ENST00000585328.1	-	2	425	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	DNAH17_ENST00000389840.5_Missense_Mutation_p.I101V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	101	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGGGCTGATGTCGCCGTAA	0.602																																					p.I101V		.											.	DNAH17-142	0			c.A301G						.						121	131	127					17																	76570839		2081	4205	6286	SO:0001583	missense	8632	exon2			GGCTGATGTCGCC	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.301A>G	17.37:g.76570839T>C	ENSP00000465516:p.Ile101Val	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	140	130	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	5.040	0.193136	0.09599	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.21191	2.02	5.11	-0.297	0.12820	.	.	.	.	.	T	0.14657	0.0354	N	0.19112	0.55	0.24748	N	0.99299	.	.	.	.	.	.	T	0.31530	-0.9940	7	0.36615	T	0.2	.	9.3951	0.38397	0.1248:0.0:0.5154:0.3598	.	.	.	.	V	101	ENSP00000374490:I101V	ENSP00000300671:I101V	I	-	1	0	DNAH17	74082434	0.861000	0.29849	0.951000	0.38953	0.019000	0.09904	-0.231000	0.09069	-0.394000	0.07727	0.460000	0.39030	ATC	.		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76570839	T	C	76570839	3	2	27	1	0	0	0	0	1	0	0	0	4615	1464	51	4	13407	4	DNAH17	17	76570839	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	3085974	76570839	4624371	312	4872											
PCYT2	5833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79865456	79865456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgtctgcatactcccGgtactcagaggacatctcct	7	13	3	1	rs544541474		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:79865456G>A	ENST00000538936.2	-	6	619	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	PCYT2_ENST00000570388.1_Missense_Mutation_p.R93W|PCYT2_ENST00000331285.3_Missense_Mutation_p.R93W|PCYT2_ENST00000570391.1_Missense_Mutation_p.R139W|PCYT2_ENST00000571105.1_Missense_Mutation_p.R171W|PCYT2_ENST00000538721.2_Missense_Mutation_p.R171W	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	171					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	GCATACTCCCGGTACTCAGAG	0.667													G|||	1	0.000199681	0	0	5008	,	,		19725	0		0	False		,,,				2504	0.001				p.R171W		.											.	PCYT2-68	0			c.C511T						.						53	39	43					17																	79865456		2203	4296	6499	SO:0001583	missense	5833	exon6			ACTCCCGGTACTC	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.511C>T	17.37:g.79865456G>A	ENSP00000439245:p.Arg171Trp	Somatic	193	1		WXS	Illumina GAIIx	Phase_I	128	112	NM_002861	0	0	0	50	50	B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277054	0.59758	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	3.33	0.38152	.	0.265315	0.38492	N	0.001672	T	0.51058	0.1652	N	0.22421	0.69	0.45837	D	0.998705	D;D;D;D;D	0.76494	0.994;0.995;0.999;0.997;0.994	P;P;P;P;P	0.57776	0.696;0.586;0.827;0.586;0.613	T	0.54105	-0.8343	9	0.72032	D	0.01	-33.3297	10.5268	0.44954	0.0:0.0:0.8056:0.1944	.	139;139;171;93;171	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	W	171;171;93	.	ENSP00000331719:R93W	R	-	1	2	PCYT2	77458748	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.404000	0.52623	0.974000	0.38366	0.561000	0.74099	CGG	.		0.667	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		A	79865456	G	A	79865456	3	1	27	1	0	0	0	0	1	0	0	0	11651	1115	39	1	748	1	PCYT2	17	79865456	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3294617	79865456	1329754	313	4873											
FASN	2194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	80039618	80039618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctccaggcaggacgCcatgcgctggggcagcgtgc	15	15	0	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr17:80039618C>T	ENST00000306749.2	-	37	6483	c.6265G>A	c.(6265-6267)Gcg>Acg	p.A2089T	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2089	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGGCAGGACGCCATGCGCTGG	0.642																																					p.A2089T	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.G6265A						.						72	62	66					17																	80039618		2202	4299	6501	SO:0001583	missense	2194	exon37			AGGACGCCATGCG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6265G>A	17.37:g.80039618C>T	ENSP00000304592:p.Ala2089Thr	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	115	46	NM_004104	0	0	19	37	18	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801193	0.02841	.	.	ENSG00000169710	ENST00000306749	T	0.27256	1.68	4.68	-9.37	0.00626	NAD(P)-binding domain (1);	1.178320	0.06020	N	0.651059	T	0.08268	0.0206	N	0.12502	0.225	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24368	-1.0162	10	0.08381	T	0.77	-5.0685	2.7664	0.05321	0.1832:0.276:0.0842:0.4566	.	2089	P49327	FAS_HUMAN	T	2089	ENSP00000304592:A2089T	ENSP00000304592:A2089T	A	-	1	0	FASN	77632907	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.592000	0.05747	-1.571000	0.01663	0.313000	0.20887	GCG	.		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80039618	C	T	80039618	3	4	27	1	0	0	0	0	1	0	0	0	5705	739	26	3	1298	3	FASN	17	80039618	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	174162	80039618	1155592	314	4874											
LAMA3	3909	ucsc.edu;bcgsc.ca	37	chr18	21456302	21456302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcataaaggcttgtatacCggacggtgtgttccctgcaa	11	9	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr18:21456302C>T	ENST00000313654.9	+	39	5284	c.5043C>T	c.(5041-5043)acC>acT	p.T1681T	LAMA3_ENST00000587184.1_Silent_p.T72T|LAMA3_ENST00000269217.6_Silent_p.T72T|LAMA3_ENST00000399516.3_Silent_p.T1681T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1681	Domain III A.				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)					GCTTGTATACCGGACGGTGTG	0.393																																					p.T1681T		.											.	LAMA3-100	0			c.C5043T						.						164	138	147					18																	21456302		2203	4300	6503	SO:0001819	synonymous_variant	3909	exon39			GTATACCGGACGG	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.5043C>T	18.37:g.21456302C>T		Somatic	221	3		WXS	Illumina GAIIx	Phase_I	169	162	NM_001127717	0	0	0	0	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																			.		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21456302	C	T	21456302	2	4	27	1	0	0	0	0	0	0	0	1	8635	639	23	1		1	LAMA3	18	21456302	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		21456302	56620946	315	4875											
SETBP1	26040	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	42531274	42531274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagttggaaagctcggcGtgttggataagaagaccatc	13	6	0	3	rs554003194		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr18:42531274G>A	ENST00000282030.5	+	4	2265	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	657						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGCTCGGCGTGTTGGATAA	0.453									Schinzel-Giedion syndrome																												p.V657M		.											.	SETBP1-155	0			c.G1969A						.						54	47	50					18																	42531274		2186	4273	6459	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	CTCGGCGTGTTGG	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1969G>A	18.37:g.42531274G>A	ENSP00000282030:p.Val657Met	Somatic	134	2		WXS	Illumina GAIIx	Phase_I	101	43	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401078	0.25291	.	.	ENSG00000152217	ENST00000282030	T	0.70164	-0.46	6.07	6.07	0.98685	.	0.065250	0.64402	D	0.000011	T	0.49474	0.1559	N	0.19112	0.55	0.37934	D	0.932116	P	0.51653	0.947	B	0.38225	0.268	T	0.57195	-0.7853	10	0.38643	T	0.18	.	13.793	0.63152	0.0696:0.0:0.9304:0.0	.	657	Q9Y6X0	SETBP_HUMAN	M	657	ENSP00000282030:V657M	ENSP00000282030:V657M	V	+	1	0	SETBP1	40785272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.424000	0.59868	2.890000	0.99128	0.650000	0.86243	GTG	.		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42531274	G	A	42531274	3	1	27	1	0	0	0	0	1	0	0	0	14174	1145	40	1	2172	1	SETBP1	18	42531274	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	21074972	42531274	35545974	316	4876											
TXNL1	9352	broad.mit.edu	37	chr18	54305668	54305668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgggcttcacccccaCcatcctcacagagagcccgg	9	20	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr18:54305668C>T	ENST00000217515.6	-	1	208	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	TXNL1_ENST00000590954.1_Missense_Mutation_p.V2M|TXNL1_ENST00000540155.1_De_novo_Start_InFrame	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	2	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCACCCCCACCATCCTCACA	0.637																																					p.V2M		.											.	TXNL1-90	0			c.G4A						.						18	20	19					18																	54305668		2202	4298	6500	SO:0001583	missense	9352	exon1			CCCCCACCATCCT	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.4G>A	18.37:g.54305668C>T	ENSP00000217515:p.Val2Met	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	45	3	NM_004786	0	0	40	40	0		Missense_Mutation	SNP	ENST00000217515.6	37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694584	0.48202	.	.	ENSG00000091164	ENST00000217515	T	0.18960	2.18	5.52	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.10465	0.0256	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.15607	-1.0431	10	0.22109	T	0.4	.	10.4866	0.44726	0.0:0.9099:0.0:0.0901	.	2;2	B2R960;O43396	.;TXNL1_HUMAN	M	2	ENSP00000217515:V2M	ENSP00000217515:V2M	V	-	1	0	TXNL1	52456666	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.567000	0.67378	1.333000	0.45449	0.462000	0.41574	GTG	.		0.637	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			T	54305668	C	T	54305668	3	4	27	1	0	0	0	0	1	0	0	0	16853	507	18	3	897	3	TXNL1	18	54305668	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	11774394	54305668	23771580	317	4877											
SERPINB8	5271	broad.mit.edu;bcgsc.ca	37	chr18	61649031	61649031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagacactgaagagtGcaggaagcatataaatgact	11	6	0	5			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr18:61649031G>T	ENST00000397985.2	+	4	639	c.383G>T	c.(382-384)tGc>tTc	p.C128F	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.C128F|SERPINB8_ENST00000353706.2_Missense_Mutation_p.C128F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	128					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ACTGAAGAGTGCAGGAAGCAT	0.413																																					p.C128F		.											.	SERPINB8-226	0			c.G383T						.						196	182	186					18																	61649031		2203	4300	6503	SO:0001583	missense	5271	exon4			AAGAGTGCAGGAA	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.383G>T	18.37:g.61649031G>T	ENSP00000381072:p.Cys128Phe	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	60	5	NM_001031848	0	0	7	7	0	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.122343|3.122343	0.56613|0.56613	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000295211|ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827	.|D;D;D;D	.|0.83992	.|-1.79;-1.79;-1.79;-1.79	5.21|5.21	4.34|4.34	0.51931|0.51931	.|Serpin domain (3);	.|0.360834	.|0.32836	.|N	.|0.005587	D|D	0.83830|0.83830	0.5339|0.5339	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48230	.|0.84;0.907	.|P;P	.|0.50314	.|0.637;0.637	T|T	0.83117|0.83117	-0.0120|-0.0120	5|9	.|.	.|.	.|.	.|.	12.0488|12.0488	0.53495|0.53495	0.0:0.4672:0.5328:0.0|0.0:0.4672:0.5328:0.0	.|.	.|128;128	.|P50452;Q8N178	.|SPB8_HUMAN;.	S|F	70|128	.|ENSP00000381072:C128F;ENSP00000331368:C128F;ENSP00000381075:C128F;ENSP00000393456:C128F	.|.	A|C	+|+	1|2	0|0	SERPINB8|SERPINB8	59800011|59800011	0.293000|0.293000	0.24371|0.24371	0.895000|0.895000	0.35142|0.35142	0.590000|0.590000	0.36582|0.36582	2.369000|2.369000	0.44231|0.44231	1.423000|1.423000	0.47198|0.47198	0.467000|0.467000	0.42956|0.42956	GCA|TGC	.		0.413	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		T	61649031	G	T	61649031	3	4	27	1	0	0	0	0	1	0	0	0	14152	1319	46	3	393	3	SERPINB8	18	61649031	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	7343363	61649031	16428217	318	4878											
MADCAM1	8174	bcgsc.ca	37	chr19	501714	501714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccgacaccacctcccCggagtctcccgacaccacct	6	23	1	0	rs78071082	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																					p.P238Q		.											.	MADCAM1-90	0			c.C713A						.						27	42	37					19																	501714		2202	4299	6501	SO:0001583	missense	8174	exon4			CCTCCCCGGAGTC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln	Somatic	179	3		WXS	Illumina GAIIx	Phase_I	138	8	NM_130760	0	0	0	0	0	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG	A|0.000;C|1.000;T|0.000		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501714	C	A	501714	3	1	27	1	0	0	0	0	1	0	0	0	9187	652	23	2	727	2	MADCAM1	19	501714	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		501714	58627269	319	4879											
LPPR3	79948	broad.mit.edu	37	chr19	814548	814548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcggcgatggcaaaggcGaagaccaggatgggcttcag	16	11	1	1	rs547023170		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:814548G>A	ENST00000520876.3	-	7	795	c.717C>T	c.(715-717)ttC>ttT	p.F239F	LPPR3_ENST00000359894.2_Silent_p.F267F|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		239						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										TGGCAAAGGCGAAGACCAGGA	0.652													G|||	1	0.000199681	0	0	5008	,	,		16283	0		0	False		,,,				2504	0.001				p.F267F		.											.	.	0			c.C801T						.						59	61	60					19																	814548		2196	4300	6496	SO:0001819	synonymous_variant	0	exon6			AAAGGCGAAGACC																												ENST00000520876.3:c.717C>T	19.37:g.814548G>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	55	4	NM_024888	0	0	0	0	0	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	ENST00000520876.3	37	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363538	0.24684	.	.	ENSG00000129951	ENST00000517665;ENST00000521445	.	.	.	4.66	-1.19	0.09585	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51857	-0.8652	4	.	.	.	-22.6326	9.8972	0.41327	0.4513:0.0:0.5487:0.0	.	.	.	.	C	28;189	.	.	R	-	1	0	AC006273.1	765548	0.325000	0.24660	0.998000	0.56505	0.780000	0.44128	-0.366000	0.07563	0.005000	0.14708	-0.378000	0.06908	CGC	.		0.652	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			A	814548	G	A	814548	2	1	27	1	0	0	0	0	0	0	0	1	8961	1049	37	1		1	LPPR3	19	814548	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	312834	814548	58314435	320	4880											
AP3D1	8943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	2129403	2129403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggacaggtagttctTagggttgcgtctggccagct	16	9	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:2129403T>C	ENST00000345016.5	-	7	877	c.646A>G	c.(646-648)Aag>Gag	p.K216E	AP3D1_ENST00000355272.6_Missense_Mutation_p.K216E|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	216					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTAGTTCTTAGGGTTGCGT	0.562																																					p.K216E		.											.	AP3D1-90	0			c.A646G						.						133	136	135					19																	2129403		1979	4159	6138	SO:0001583	missense	8943	exon7			AGTTCTTAGGGTT	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.646A>G	19.37:g.2129403T>C	ENSP00000344055:p.Lys216Glu	Somatic	306	1		WXS	Illumina GAIIx	Phase_I	213	196	NM_001261826	0	0	2	24	22	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763323	0.89932	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.26067	1.76;1.76	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.986;0.999	P;D	0.75020	0.64;0.985	T	0.60321	-0.7286	10	0.72032	D	0.01	-32.1597	13.4298	0.61049	0.0:0.0:0.0:1.0	.	216;216	O14617-5;O14617	.;AP3D1_HUMAN	E	216	ENSP00000344055:K216E;ENSP00000347416:K216E	ENSP00000341579:K216E	K	-	1	0	AP3D1	2080403	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.732000	0.84908	1.828000	0.53243	0.533000	0.62120	AAG	.		0.562	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			C	2129403	T	C	2129403	3	2	27	1	0	0	0	0	1	0	0	0	746	1763	61	4	3069	4	AP3D1	19	2129403	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	1314855	2129403	56999580	321	4881											
TJP3	27134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3734400	3734400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccccggcatgctcagcGgagccccgaggccagccaga	12	18	1	1	rs200603772		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:3734400G>A	ENST00000541714.2	+	8	1415	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	TJP3_ENST00000382008.3_Missense_Mutation_p.R332Q|TJP3_ENST00000539908.2_Missense_Mutation_p.R282Q|TJP3_ENST00000587686.1_Missense_Mutation_p.R337Q|TJP3_ENST00000589378.1_Missense_Mutation_p.R327Q|TJP3_ENST00000262968.9_Missense_Mutation_p.R351Q	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	318					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCTCAGCGGAGCCCCGAG	0.642																																					p.R327Q		.											.	TJP3-92	0			c.G980A						.						62	57	58					19																	3734400		2203	4300	6503	SO:0001583	missense	27134	exon8			CTCAGCGGAGCCC	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.953G>A	19.37:g.3734400G>A	ENSP00000439278:p.Arg318Gln	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	47	47	NM_001267561	0	0	0	0	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	g	9.641	1.138985	0.21123	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08282	3.13;3.3;3.11;3.21	3.98	-7.96	0.01144	.	2.106650	0.02563	N	0.097033	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.11235	0.004;0.002;0.002;0.001	B;B;B;B	0.10450	0.004;0.005;0.001;0.003	T	0.34054	-0.9844	10	0.36615	T	0.2	.	7.4745	0.27368	0.646:0.0:0.2248:0.1292	.	337;351;332;318	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	Q	318;282;332;351	ENSP00000439278:R318Q;ENSP00000439991:R282Q;ENSP00000371438:R332Q;ENSP00000262968:R351Q	ENSP00000262968:R351Q	R	+	2	0	TJP3	3685400	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.832000	0.00743	-1.593000	0.01617	-3.260000	0.00049	CGG	G|0.999;T|0.000		0.642	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3734400	G	A	3734400	3	1	27	1	0	0	0	0	1	0	0	0	15978	1116	39	1	1078	1	TJP3	19	3734400	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1604997	3734400	55394583	322	4882											
PLIN3	10226	ucsc.edu	37	chr19	4852250	4852250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccgtgtccttggcgcTagacaccatctcttgggccc	11	16	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:4852250T>C	ENST00000221957.4	-	5	588	c.412A>G	c.(412-414)Agc>Ggc	p.S138G	PLIN3_ENST00000585479.1_Missense_Mutation_p.S138G|PLIN3_ENST00000592528.1_Missense_Mutation_p.S126G	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	138					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCCTTGGCGCTAGACACCATC	0.622											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S138G		.											.	PLIN3-90	0			c.A412G						.						62	54	57					19																	4852250		2203	4300	6503	SO:0001583	missense	10226	exon5			TGGCGCTAGACAC	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.412A>G	19.37:g.4852250T>C	ENSP00000221957:p.Ser138Gly	Somatic	67	0	622	WXS	Illumina GAIIx	Phase_I	40	4	NM_001164189	0	0	148	148	0	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.707354	0.00719	.	.	ENSG00000105355	ENST00000221957	T	0.01572	4.76	4.19	0.733	0.18289	.	1.646820	0.03021	N	0.150728	T	0.01592	0.0051	L	0.33137	0.985	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.46830	-0.9163	10	0.02654	T	1	-17.4667	3.9732	0.09462	0.0:0.306:0.1844:0.5097	.	138;138	O60664-3;O60664	.;PLIN3_HUMAN	G	138	ENSP00000221957:S138G	ENSP00000221957:S138G	S	-	1	0	PLIN3	4803250	0.032000	0.19561	0.116000	0.21606	0.208000	0.24298	-0.391000	0.07323	-0.126000	0.11682	0.454000	0.30748	AGC	.		0.622	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		C	4852250	T	C	4852250	3	2	27	1	0	0	0	0	1	0	0	0	12130	1522	53	4	908	4	PLIN3	19	4852250	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	1117850	4852250	54276733	323	4883											
KDM4B	23030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	5143983	5143983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccatccccagaaatgCgtgtactgccggaagcggat	11	13	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:5143983C>T	ENST00000159111.4	+	19	2774	c.2556C>T	c.(2554-2556)tgC>tgT	p.C852C	KDM4B_ENST00000536461.1_Silent_p.C886C	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	852					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						CCCAGAAATGCGTGTACTGCC	0.652																																					p.C852C		.											.	KDM4B-226	0			c.C2556T						.						74	65	68					19																	5143983		2203	4300	6503	SO:0001819	synonymous_variant	23030	exon19			GAAATGCGTGTAC	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.2556C>T	19.37:g.5143983C>T		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	43	39	NM_015015	0	0	0	0	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																			.		0.652	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		T	5143983	C	T	5143983	2	4	27	1	0	0	0	0	0	0	0	1	8156	776	27	1		1	KDM4B	19	5143983	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	291733	5143983	53985000	324	4884											
SLC25A23	79085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6452332	6452332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacagacctcgtagacGgccaggtcgatgcccgcata	11	15	0	2	rs148491192		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:6452332G>A	ENST00000301454.4	-	8	1168	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	SLC25A23_ENST00000334510.5_Silent_p.A354A|SLC25A23_ENST00000414491.2_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	354					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.A354A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCTCGTAGACGGCCAGGTCGA	0.662																																					p.A354A		.											.	SLC25A23-92	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T						.	G		0,4406		0,0,2203	45	36	39		1062	-2.8	1	19	dbSNP_134	39	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC25A23	NM_024103.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		354/469	6452332	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	79085	exon8			GTAGACGGCCAGG	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1062C>T	19.37:g.6452332G>A		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	64	64	NM_024103	0	0	0	2	2	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																			G|1.000;A|0.000		0.662	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		A	6452332	G	A	6452332	2	1	27	1	0	0	0	0	0	0	0	1	14531	1103	39	1		1	SLC25A23	19	6452332	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1308349	6452332	52676651	325	4885											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399628	8399628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccgcgctggtgctccagActggcgcgcagcagctctag	13	16	1	1	rs710949	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:8399628A>G	ENST00000593649.1	-	3	1148	c.1083T>C	c.(1081-1083)agT>agC	p.S361S	KANK3_ENST00000330915.3_Silent_p.S361S			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	361										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGTGCTCCAGACTGGCGCGCA	0.766													G|||	3017	0.602436	0.7443	0.6153	5008	,	,		10732	0.4147		0.5984	False		,,,				2504	0.5992				p.S361S		.											.	KANK3-90	0			c.T1083C						.	G		1917,541		783,351,95	1	1	1		1083	3.4	1	19	dbSNP_86	1	3649,1585		1364,921,332	no	coding-synonymous	KANK3	NM_198471.2		2147,1272,427	GG,GA,AA		30.2828,22.0098,27.6391		361/822	8399628	5566,2126	1229	2617	3846	SO:0001819	synonymous_variant	256949	exon3			CTCCAGACTGGCG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1083T>C	19.37:g.8399628A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				A|0.411;G|0.589		0.766	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		G	8399628	A	G	8399628	2	3	27	1	0	0	0	0	0	0	0	1	8005	272	10	4		4	KANK3	19	8399628	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1947296	8399628	50729355	326	4886											
MUC16	94025	broad.mit.edu	37	chr19	9076759	9076759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggtgctgtccatggTactcatacccacttctgggt	13	12	2	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:9076759T>C	ENST00000397910.4	-	3	10890	c.10687A>G	c.(10687-10689)Acc>Gcc	p.T3563A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3564	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						CTGTCCATGGTACTCATACCC	0.542											OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.T3563A		.											.	MUC16-566	0			c.A10687G						.						205	202	203					19																	9076759		2124	4230	6354	SO:0001583	missense	94025	exon3			CCATGGTACTCAT	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.10687A>G	19.37:g.9076759T>C	ENSP00000381008:p.Thr3563Ala	Somatic	502	1	654	WXS	Illumina GAIIx	Phase_I	346	8	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.172	0.217344	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.76	-0.419	0.12340	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.35456	0.502	B	0.40066	0.318	T	0.45205	-0.9277	8	0.87932	D	0	.	4.1639	0.10298	0.0:0.4139:0.0:0.5861	.	3563	B5ME49	.	A	3563	ENSP00000381008:T3563A	ENSP00000381008:T3563A	T	-	1	0	MUC16	8937759	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.743000	0.04845	-0.196000	0.10366	0.260000	0.18958	ACC	.		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9076759	T	C	9076759	3	2	27	1	0	0	0	0	1	0	0	0	10011	1638	57	4	33164	4	MUC16	19	9076759	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	677131	9076759	50052224	327	4887											
TNPO2	30000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12814290	12814290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggcgttgttgcagaCggagatgaactctgggttca	15	8	2	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:12814290C>T	ENST00000592287.1	-	19	2269	c.2161G>A	c.(2161-2163)Gtc>Atc	p.V721I	TNPO2_ENST00000450764.2_Missense_Mutation_p.V721I|TNPO2_ENST00000356861.5_Missense_Mutation_p.V721I|TNPO2_ENST00000588216.1_Missense_Mutation_p.V721I|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000425528.1_Missense_Mutation_p.V721I|TNPO2_ENST00000441499.1_Missense_Mutation_p.V721I	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	721					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						TTGTTGCAGACGGAGATGAAC	0.592																																					p.V721I		.											.	TNPO2-227	0			c.G2161A						.						123	132	129					19																	12814290		2035	4197	6232	SO:0001583	missense	30000	exon19			TGCAGACGGAGAT	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.2161G>A	19.37:g.12814290C>T	ENSP00000468434:p.Val721Ile	Somatic	245	0		WXS	Illumina GAIIx	Phase_I	135	125	NM_013433	0	0	0	74	74	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340344	0.95783	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000546320	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.88640	2.97	0.80722	D	1	P;D	0.67145	0.839;0.996	P;P	0.59546	0.531;0.859	T	0.74910	-0.3503	10	0.72032	D	0.01	-16.3853	18.1657	0.89724	0.0:1.0:0.0:0.0	.	885;721	Q4LE60;O14787	.;TNPO2_HUMAN	I	885;721;721;721;721;721	ENSP00000407182:V721I;ENSP00000389648:V721I;ENSP00000397379:V721I;ENSP00000349321:V721I	ENSP00000349321:V721I	V	-	1	0	TNPO2	12675290	1.000000	0.71417	0.970000	0.41538	0.874000	0.50279	7.459000	0.80802	2.587000	0.87381	0.655000	0.94253	GTC	.		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12814290	C	T	12814290	3	4	27	1	0	0	0	0	1	0	0	0	16383	536	19	1	556	1	TNPO2	19	12814290	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	3737531	12814290	46314693	328	4888											
PRDX2	7001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12910730	12910730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcagagcctcatccaCggagcgtcccacaggcaaat	10	16	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:12910730C>T	ENST00000301522.2	-	5	582	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Intron	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	152	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCTCATCCACGGAGCGTCCC	0.557																																					p.F152I		.											.	PRDX2-90	0			c.T454A						.						129	106	114					19																	12910730		2203	4300	6503	SO:0001583	missense	7001	exon5			CATCCACGGAGCG		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.454G>A	19.37:g.12910730C>T	ENSP00000301522:p.Val152Met	Somatic	191	1		WXS	Illumina GAIIx	Phase_I	117	106	NM_005809	0	1	1	738	736	A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	C	34	5.303332	0.95601	.	.	ENSG00000167815	ENST00000301522	T	0.15834	2.39	5.26	5.26	0.73747	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000017	T	0.47451	0.1446	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	P	0.62560	0.904	T	0.57665	-0.7772	10	0.87932	D	0	-51.3262	17.6211	0.88082	0.0:1.0:0.0:0.0	.	152	P32119	PRDX2_HUMAN	M	152	ENSP00000301522:V152M	ENSP00000301522:V152M	V	-	1	0	PRDX2	12771730	1.000000	0.71417	0.873000	0.34254	0.984000	0.73092	7.423000	0.80229	2.470000	0.83445	0.561000	0.74099	GTG	.		0.557	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		T	12910730	C	T	12910730	3	4	27	1	0	0	0	0	1	0	0	0	12507	536	19	1	150	1	PRDX2	19	12910730	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	96440	12910730	46218253	329	4889											
RLN3	117579	broad.mit.edu	37	chr19	14139168	14139168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctgcgggggctcccGgtggagacgatcagacatcc	13	14	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:14139168G>T	ENST00000431365.2	+	1	209	c.152G>T	c.(151-153)cGg>cTg	p.R51L	CTB-55O6.4_ENST00000590528.1_RNA|RLN3_ENST00000585987.1_Missense_Mutation_p.R51L	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	51						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						GGGGGCTCCCGGTGGAGACGA	0.647																																					p.R51L		.											.	RLN3-90	0			c.G152T						.						47	51	50					19																	14139168		2203	4299	6502	SO:0001583	missense	117579	exon1			GCTCCCGGTGGAG	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.152G>T	19.37:g.14139168G>T	ENSP00000397415:p.Arg51Leu	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	124	4	NM_080864	0	0	0	0	0	Q6UXW5	Missense_Mutation	SNP	ENST00000431365.2	37	CCDS12302.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743280	0.69418	.	.	ENSG00000171136	ENST00000431365	D	0.88277	-2.36	4.57	4.57	0.56435	Insulin-like (4);	0.476404	0.21850	N	0.068184	D	0.94837	0.8332	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95691	0.8740	10	0.87932	D	0	-29.5805	16.1425	0.81536	0.0:0.0:1.0:0.0	.	51;51	B2RU28;Q8WXF3	.;REL3_HUMAN	L	51	ENSP00000397415:R51L	ENSP00000397415:R51L	R	+	2	0	RLN3	14000168	1.000000	0.71417	0.569000	0.28460	0.150000	0.21749	8.346000	0.90060	2.093000	0.63338	0.491000	0.48974	CGG	.		0.647	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			T	14139168	G	T	14139168	3	4	27	1	0	0	0	0	1	0	0	0	13438	1116	39	2	154	2	RLN3	19	14139168	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1228438	14139168	44989815	330	4890											
CYP4F11	57834	broad.mit.edu;bcgsc.ca	37	chr19	16045121	16045121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggtccaggccaggacgCgggccaggagccaggagcct	17	12	0	0	rs567208540		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:16045121C>T	ENST00000402119.4	-	1	524	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CYP4F11_ENST00000248041.8_Missense_Mutation_p.R33H|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R33H	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCCAGGACGCGGGCCAGGAG	0.652													.|||	1	0.000199681	0	0	5008	,	,		13453	0		0	False		,,,				2504	0.001				p.R33H		.											.	CYP4F11-91	0			c.G98A						.						41	43	42					19																	16045121		2203	4300	6503	SO:0001583	missense	57834	exon2			AGGACGCGGGCCA	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.98G>A	19.37:g.16045121C>T	ENSP00000384588:p.Arg33His	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	137	10	NM_001128932	0	0	0	0	0		Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	9.112	1.006740	0.19199	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.91945	-2.94;-2.94;-2.94	2.78	-0.611	0.11601	.	0.720518	0.11664	U	0.541484	D	0.84964	0.5589	L	0.39397	1.21	0.09310	N	1	B;B	0.21071	0.051;0.014	B;B	0.18263	0.021;0.006	T	0.71646	-0.4530	10	0.34782	T	0.22	.	5.0537	0.14522	0.0:0.543:0.0:0.457	.	33;33	F8W978;Q9HBI6	.;CP4FB_HUMAN	H	33	ENSP00000384588:R33H;ENSP00000248041:R33H;ENSP00000319859:R33H	ENSP00000248041:R33H	R	-	2	0	CYP4F11	15906121	0.000000	0.05858	0.089000	0.20774	0.030000	0.12068	-0.158000	0.10070	0.078000	0.16900	-0.683000	0.03753	CGC	.		0.652	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		T	16045121	C	T	16045121	3	4	27	1	0	0	0	0	1	0	0	0	4195	768	27	1	1524	1	CYP4F11	19	16045121	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1905953	16045121	43083862	331	4891											
NR2F6	2063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17343368	17343368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcgcccgcacatactcGgtgagggccacctgcgcctt	11	16	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:17343368G>A	ENST00000291442.3	-	4	1727	c.1008C>T	c.(1006-1008)acC>acT	p.T336T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	336	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GCACATACTCGGTGAGGGCCA	0.701																																					p.T336T		.											.	NR2F6-186	0			c.C1008T						.						21	22	21					19																	17343368		2202	4299	6501	SO:0001819	synonymous_variant	2063	exon4			ATACTCGGTGAGG	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1008C>T	19.37:g.17343368G>A		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	31	29	NM_005234	0	0	0	46	46	B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	CCDS12352.1																																																																																			.		0.701	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			A	17343368	G	A	17343368	2	1	27	1	0	0	0	0	0	0	0	1	10668	1103	39	1		1	NR2F6	19	17343368	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1298247	17343368	41785615	332	4892											
NR2C2AP	126382	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19313147	19313147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcaggatatctgaagcGagttgttgtcctcagggtag	16	6	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:19313147G>A	ENST00000331552.7	-	4	659	c.296C>T	c.(295-297)tCg>tTg	p.S99L	NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.S99L|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.S99L	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	99					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TATCTGAAGCGAGTTGTTGTC	0.537																																					p.S99L		.											.	NR2C2AP-23	0			c.C296T						.						209	206	207					19																	19313147		2203	4300	6503	SO:0001583	missense	126382	exon4			TGAAGCGAGTTGT	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.296C>T	19.37:g.19313147G>A	ENSP00000332823:p.Ser99Leu	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	80	69	NM_176880	0	0	0	1	1	A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843265	0.71488	.	.	ENSG00000184162	ENST00000331552;ENST00000420605	T;T	0.64803	-0.12;-0.12	4.95	4.95	0.65309	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.293051	0.32819	N	0.005609	T	0.52773	0.1755	L	0.42245	1.32	0.80722	D	1	P	0.46912	0.886	B	0.38156	0.266	T	0.61267	-0.7097	10	0.72032	D	0.01	-12.8474	13.5646	0.61810	0.0:0.0:1.0:0.0	.	99	Q86WQ0	NR2CA_HUMAN	L	99	ENSP00000332823:S99L;ENSP00000402756:S99L	ENSP00000332823:S99L	S	-	2	0	NR2C2AP	19174147	1.000000	0.71417	0.955000	0.39395	0.921000	0.55340	4.137000	0.58010	2.577000	0.86979	0.462000	0.41574	TCG	.		0.537	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		A	19313147	G	A	19313147	3	1	27	1	0	0	0	0	1	0	0	0	10663	1059	37	1	131	1	NR2C2AP	19	19313147	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1969779	19313147	39815836	333	4893											
CHST8	64377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	34263477	34263477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttgtccgcgagcccttcGagaggctggtgtccgccttc	12	14	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:34263477G>A	ENST00000262622.4	+	4	1542	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CHST8_ENST00000438847.3_Missense_Mutation_p.E262K|CHST8_ENST00000434302.1_Missense_Mutation_p.E262K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	262					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGCCCTTCGAGAGGCTGGT	0.617																																					p.E262K		.											.	CHST8-156	0			c.G784A						.						100	94	96					19																	34263477		2203	4300	6503	SO:0001583	missense	64377	exon5			CCCTTCGAGAGGC	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.784G>A	19.37:g.34263477G>A	ENSP00000262622:p.Glu262Lys	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	139	127	NM_001127895	0	0	0	0	0	Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064948	0.93898	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75260	-0.92;-0.92;-0.92	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.88351	0.6413	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90750	0.4656	10	0.72032	D	0.01	-14.9791	16.9921	0.86356	0.0:0.0:1.0:0.0	.	262	Q9H2A9	CHST8_HUMAN	K	262	ENSP00000392604:E262K;ENSP00000393879:E262K;ENSP00000262622:E262K	ENSP00000262622:E262K	E	+	1	0	CHST8	38955317	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.869000	0.99810	2.241000	0.73720	0.297000	0.19635	GAG	.		0.617	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		A	34263477	G	A	34263477	3	1	27	1	0	0	0	0	1	0	0	0	3417	1059	37	1	794	1	CHST8	19	34263477	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14950330	34263477	24865506	334	4894											
RYR1	6261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38931501	38931501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcccactagcaacgcGcaggtctgtgcaggagggag	16	11	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:38931501G>A	ENST00000359596.3	+	2	162	c.162G>A	c.(160-162)gcG>gcA	p.A54A	RYR1_ENST00000360985.3_Silent_p.A54A|RYR1_ENST00000355481.4_Silent_p.A54A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	54					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)	CTAGCAACGCGCAGGTCTGTG	0.637																																					p.A54A		.											.	RYR1-100	0			c.G162A						.						17	18	18					19																	38931501		2199	4288	6487	SO:0001819	synonymous_variant	6261	exon2			CAACGCGCAGGTC	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.162G>A	19.37:g.38931501G>A		Somatic	191	2		WXS	Illumina GAIIx	Phase_I	121	103	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38931501	G	A	38931501	2	1	27	1	0	0	0	0	0	0	0	1	13813	1074	38	1		1	RYR1	19	38931501	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4668024	38931501	20197482	335	4895											
FCGBP	8857	broad.mit.edu	37	chr19	40376473	40376473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagggagcaggtgtccGcacagagctcgtagtgactg	15	11	0	2	rs372938963		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:40376473G>A	ENST00000221347.6	-	25	11838	c.11831C>T	c.(11830-11832)gCg>gTg	p.A3944V	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3944	Cys-rich.|TIL 9.					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)			GCAGGTGTCCGCACAGAGCTC	0.642																																					p.A3944V		.											.	FCGBP-98	0			c.C11831T						.	G	VAL/ALA	1,4333		0,1,2166	9	11	10		11831	3.8	1	19		10	0,8486		0,0,4243	no	missense	FCGBP	NM_003890.2	64	0,1,6409	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	3944/5406	40376473	1,12819	2167	4243	6410	SO:0001583	missense	8857	exon25			GTGTCCGCACAGA	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.11831C>T	19.37:g.40376473G>A	ENSP00000221347:p.Ala3944Val	Somatic	729	1		WXS	Illumina GAIIx	Phase_I	504	18	NM_003890	0	0	1	1	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.053477	0.55218	2.31E-4	0.0	ENSG00000090920	ENST00000221347	D	0.90955	-2.76	3.77	3.77	0.43336	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.90679	0.7076	L	0.33668	1.02	0.25526	N	0.987321	D	0.76494	0.999	D	0.68765	0.96	T	0.80964	-0.1147	9	0.07482	T	0.82	.	14.7967	0.69884	0.0:0.0:1.0:0.0	.	3944	Q9Y6R7	FCGBP_HUMAN	V	3944	ENSP00000221347:A3944V	ENSP00000221347:A3944V	A	-	2	0	FCGBP	45068313	0.493000	0.26035	0.987000	0.45799	0.171000	0.22731	2.913000	0.48790	1.823000	0.53134	0.306000	0.20318	GCG	.		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40376473	G	A	40376473	3	1	27	1	0	0	0	0	1	0	0	0	5800	1087	38	1	4434	1	FCGBP	19	40376473	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1444972	40376473	18752510	336	4896											
AXL	558	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41726567	41726567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaagaaagtcccttcGtgggcaacccagggaatatc	12	10	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:41726567G>A	ENST00000301178.4	+	2	302	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.V38M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	38	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGTCCCTTCGTGGGCAACCC	0.622																																					p.V38M		.											.	AXL-1403	0			c.G112A						.						28	27	28					19																	41726567		2199	4291	6490	SO:0001583	missense	558	exon2			CCCTTCGTGGGCA	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.112G>A	19.37:g.41726567G>A	ENSP00000301178:p.Val38Met	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	134	129	NM_021913	0	0	0	0	0	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	1.168	-0.641873	0.03531	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.12465	2.68;2.68	4.59	2.37	0.29283	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114292	0.35466	N	0.003188	T	0.11879	0.0289	L	0.45051	1.395	0.25938	N	0.982909	P;P	0.49559	0.908;0.925	B;B	0.43701	0.204;0.428	T	0.17198	-1.0377	10	0.20046	T	0.44	-8.229	9.5289	0.39182	0.0:0.0:0.6164:0.3836	.	38;38	P30530-2;P30530	.;UFO_HUMAN	M	38	ENSP00000301178:V38M;ENSP00000351995:V38M	ENSP00000301178:V38M	V	+	1	0	AXL	46418407	0.987000	0.35691	0.254000	0.24359	0.002000	0.02628	2.148000	0.42235	0.525000	0.28522	-0.818000	0.03119	GTG	.		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			A	41726567	G	A	41726567	3	1	27	1	0	0	0	0	1	0	0	0	1239	1145	40	1	118	1	AXL	19	41726567	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1350094	41726567	17402416	337	4897											
TMEM145	284339	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42821906	42821906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtatgagtcgccggccGgctacgggctcattggactg	14	12	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:42821906G>A	ENST00000301204.3	+	12	987	c.946G>A	c.(946-948)Ggc>Agc	p.G316S	TMEM145_ENST00000598766.1_Missense_Mutation_p.G340S	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	316					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTCGCCGGCCGGCTACGGGCT	0.572																																					p.G316S		.											.	TMEM145-90	0			c.G946A						.						118	96	103					19																	42821906		2203	4300	6503	SO:0001583	missense	284339	exon12			CCGGCCGGCTACG	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.946G>A	19.37:g.42821906G>A	ENSP00000301204:p.Gly316Ser	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	144	8	NM_173633	0	0	0	0	0		Missense_Mutation	SNP	ENST00000301204.3	37	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014437	0.93404	.	.	ENSG00000167619	ENST00000301204	T	0.68479	-0.33	4.22	4.22	0.49857	Rhodopsin-like GPCR transmembrane domain (1);	0.161226	0.37809	N	0.001935	T	0.78966	0.4367	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.79120	-0.1934	10	0.39692	T	0.17	-18.0182	14.468	0.67497	0.0:0.0:1.0:0.0	.	316	Q8NBT3	TM145_HUMAN	S	316	ENSP00000301204:G316S	ENSP00000301204:G316S	G	+	1	0	TMEM145	47513746	1.000000	0.71417	0.970000	0.41538	0.966000	0.64601	7.802000	0.85969	2.082000	0.62665	0.591000	0.81541	GGC	.		0.572	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		A	42821906	G	A	42821906	3	1	27	1	0	0	0	0	1	0	0	0	16106	1116	39	1	992	1	TMEM145	19	42821906	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1095339	42821906	16307077	338	4898											
IRGQ	126298	bcgsc.ca	37	chr19	44096816	44096816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccgggcttaacgcagCggcccgctctgagtcgccac	12	17	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:44096816C>T	ENST00000602269.1	-	2	1419	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.A412T			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	412	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTTAACGCAGCGGCCCGCTCT	0.657																																					p.A412T		.											.	IRGQ-92	0			c.G1234A						.						84	85	85					19																	44096816		2203	4300	6503	SO:0001583	missense	126298	exon3			ACGCAGCGGCCCG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1234G>A	19.37:g.44096816C>T	ENSP00000472250:p.Ala412Thr	Somatic	95	3		WXS	Illumina GAIIx	Phase_I	51	44	NM_001007561	0	0	0	1	1	B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910439	0.17833	.	.	ENSG00000167378	ENST00000422989	T	0.57595	0.39	3.55	2.48	0.30137	.	0.642064	0.14734	N	0.301555	T	0.38665	0.1049	L	0.47716	1.5	0.09310	N	1	P	0.43885	0.82	B	0.32762	0.152	T	0.16808	-1.0390	10	0.36615	T	0.2	-27.8122	10.3444	0.43897	0.1977:0.8023:0.0:0.0	.	412	Q8WZA9	IRGQ_HUMAN	T	412	ENSP00000387535:A412T	ENSP00000387535:A412T	A	-	1	0	IRGQ	48788656	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.225000	0.32551	1.038000	0.40049	0.563000	0.77884	GCT	.		0.657	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		T	44096816	C	T	44096816	3	4	27	1	0	0	0	0	1	0	0	0	7866	768	27	1	641	1	IRGQ	19	44096816	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1274910	44096816	15032167	339	4899											
ZNF225	7768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	44636010	44636010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttatacaaattcacaaCgttattctcaccagagagcg	6	9	2	1	rs200370101		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:44636010C>T	ENST00000262894.6	+	5	1523	c.1243C>T	c.(1243-1245)Cgt>Tgt	p.R415C	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R415C	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAATTCACAACGTTATTCTCA	0.453													C|||	1	0.000199681	0	0	5008	,	,		20398	0.001		0	False		,,,				2504	0				p.R415C		.											.	.	0			c.C1243T						.	C	CYS/ARG	1,4387	2.1+/-5.4	0,1,2193	101	106	104		1243	1.4	0	19		104	1,8589	1.2+/-3.3	0,1,4294	yes	missense	ZNF225	NM_013362.2	180	0,2,6487	TT,TC,CC		0.0116,0.0228,0.0154	benign	415/707	44636010	2,12976	2194	4295	6489	SO:0001583	missense	7768	exon5			TCACAACGTTATT	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1243C>T	19.37:g.44636010C>T	ENSP00000262894:p.Arg415Cys	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	74	65	NM_013362	0	0	0	1	1	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102903	0.20632	2.28E-4	1.16E-4	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.15256	2.44	2.43	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11922	0.0290	N	0.25825	0.765	0.09310	N	1	B	0.17268	0.021	B	0.11329	0.006	T	0.26573	-1.0099	9	0.62326	D	0.03	.	8.0916	0.30803	0.0:0.8668:0.0:0.1332	.	415	Q9UK10	ZN225_HUMAN	C	415;379	ENSP00000262894:R415C	ENSP00000262894:R415C	R	+	1	0	ZNF225	49327850	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.017000	0.01445	0.337000	0.23665	0.561000	0.74099	CGT	.		0.453	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			T	44636010	C	T	44636010	3	4	27	1	0	0	0	0	1	0	0	0	17827	536	19	1	1257	1	ZNF225	19	44636010	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	539194	44636010	14492973	340	4900											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	15	13	NM_000041	0	2	3	630	625	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	27	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	775931	45411941	13717042	341	4901											
TULP2	7288	ucsc.edu	37	chr19	49399726	49399726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcagacaagagcGccaaagccacggggaagcgt	12	15	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:49399726G>A	ENST00000221399.3	-	4	316	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGACAAGAGCGCCAAAGCCAC	0.637																																					p.R58C		.											.	TULP2-93	0			c.C172T						.						45	47	46					19																	49399726		2203	4300	6503	SO:0001583	missense	7288	exon4			AAGAGCGCCAAAG	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.172C>T	19.37:g.49399726G>A	ENSP00000221399:p.Arg58Cys	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_003323	0	0	0	0	0	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323221	0.60634	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T;T	0.86562	-2.14;1.52;0.82;0.27	5.03	2.78	0.32641	Tubby, N-terminal (1);	0.678460	0.13857	N	0.357935	D	0.88887	0.6559	L	0.56199	1.76	0.19300	N	0.999977	D	0.76494	0.999	P	0.57324	0.818	T	0.79313	-0.1855	10	0.56958	D	0.05	-1.6322	9.8786	0.41220	0.0:0.1519:0.6906:0.1575	.	58	O00295	TULP2_HUMAN	C	58;58;58;39;14	ENSP00000221399:R58C;ENSP00000428420:R58C;ENSP00000430040:R58C;ENSP00000428535:R39C	ENSP00000221399:R58C	R	-	1	0	TULP2	54091538	0.025000	0.19082	0.008000	0.14137	0.009000	0.06853	0.972000	0.29409	0.574000	0.29417	0.596000	0.82720	CGC	.		0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		A	49399726	G	A	49399726	3	1	27	1	0	0	0	0	1	0	0	0	16823	1087	38	1	1430	1	TULP2	19	49399726	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3987785	49399726	9729257	342	4902											
ZNF473	25888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50549939	50549939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagtgctgagcttgtcCgccaccagagaattcacact	10	13	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:50549939C>T	ENST00000595661.1	+	6	2734	c.2239C>T	c.(2239-2241)Cgc>Tgc	p.R747C	ZNF473_ENST00000270617.3_Missense_Mutation_p.R747C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R747C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.R735C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	747					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGAGCTTGTCCGCCACCAGAG	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R747C		.											.	ZNF473-91	0			c.C2239T						.						75	79	78					19																	50549939		2203	4300	6503	SO:0001583	missense	25888	exon5			CTTGTCCGCCACC	AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2239C>T	19.37:g.50549939C>T	ENSP00000472808:p.Arg747Cys	Somatic	88	0	970	WXS	Illumina GAIIx	Phase_I	76	71	NM_015428	0	0	0	10	10	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630116	0.28978	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07800	3.16;3.16;3.16	4.23	3.2	0.36748	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.845028	0.09732	N	0.762991	T	0.23171	0.0560	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	P	0.61722	0.893	T	0.07028	-1.0794	10	0.54805	T	0.06	-0.7558	10.4737	0.44652	0.0:0.9029:0.0:0.0971	.	747	Q8WTR7	ZN473_HUMAN	C	747;747;735	ENSP00000270617:R747C;ENSP00000375697:R747C;ENSP00000388961:R735C	ENSP00000270617:R747C	R	+	1	0	ZNF473	55241751	0.000000	0.05858	0.259000	0.24435	0.287000	0.27160	0.401000	0.20948	1.372000	0.46190	0.650000	0.86243	CGC	.		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50549939	C	T	50549939	3	4	27	1	0	0	0	0	1	0	0	0	17979	652	23	1	2253	1	ZNF473	19	50549939	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1150213	50549939	8579044	343	4903											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	27	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	465465	51015404	8113579	344	4904											
TMC4	147798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54669182	54669182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaagatgatgcgctggcGcagccgcacgtggacgtccc	14	13	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:54669182G>A	ENST00000376591.4	-	6	1065	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.R306C	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	312					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)					ATGCGCTGGCGCAGCCGCACG	0.632																																					p.R312C		.											.	TMC4-91	0			c.C934T						.						44	35	38					19																	54669182		2203	4300	6503	SO:0001583	missense	147798	exon6			GCTGGCGCAGCCG	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.934C>T	19.37:g.54669182G>A	ENSP00000365776:p.Arg312Cys	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	86	46	NM_001145303	0	0	2	4	2	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455100	0.84209	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.52754	0.65;0.65	4.8	4.8	0.61643	.	0.058937	0.64402	D	0.000002	T	0.65709	0.2717	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.61397	0.796;0.888	T	0.70883	-0.4751	10	0.87932	D	0	-19.4647	13.8098	0.63256	0.0:0.0:1.0:0.0	.	312;306	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	C	306;312	ENSP00000301187:R306C;ENSP00000365776:R312C	ENSP00000301187:R306C	R	-	1	0	TMC4	59360994	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.335000	0.52105	2.418000	0.82041	0.650000	0.86243	CGC	.		0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			A	54669182	G	A	54669182	3	1	27	1	0	0	0	0	1	0	0	0	16034	1087	38	1	1244	1	TMC4	19	54669182	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3653778	54669182	4459801	345	4905											
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56544918	56544918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcaggtttagaaatGcacagattacccctggtgtg	10	10	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:56544918G>A	ENST00000390649.3	+	9	2458	c.2458G>A	c.(2458-2460)Gca>Aca	p.A820T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	820					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)		GTTTAGAAATGCACAGATTAC	0.493																																					p.A820T		.											.	NLRP5-162	0			c.G2458A						.						172	171	171					19																	56544918		1967	4173	6140	SO:0001583	missense	126206	exon9			AGAAATGCACAGA	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.2458G>A	19.37:g.56544918G>A	ENSP00000375063:p.Ala820Thr	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	137	126	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	5.735	0.320050	0.10845	.	.	ENSG00000171487	ENST00000390649	T	0.16897	2.31	3.05	-0.582	0.11709	.	0.547996	0.13747	N	0.365530	T	0.14485	0.0350	M	0.69823	2.125	0.09310	N	1	B	0.28998	0.23	B	0.26864	0.074	T	0.22347	-1.0219	10	0.30854	T	0.27	.	2.6193	0.04912	0.2658:0.0:0.5069:0.2273	.	820	P59047	NALP5_HUMAN	T	820	ENSP00000375063:A820T	ENSP00000375063:A820T	A	+	1	0	NLRP5	61236730	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.571000	0.36450	-0.007000	0.14345	-0.156000	0.13503	GCA	.		0.493	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56544918	G	A	56544918	3	1	27	1	0	0	0	0	1	0	0	0	10519	1319	46	3	2492	3	NLRP5	19	56544918	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1875736	56544918	2584065	346	4906											
ZNF135	7694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58579725	58579725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacctcactcagcacCggaggatccacacaggagag	10	16	2	1	rs138910447		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:58579725C>T	ENST00000313434.5	+	5	1974	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	ZNF135_ENST00000401053.4_Missense_Mutation_p.R649W|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Missense_Mutation_p.R583W|ZNF135_ENST00000511556.1_Missense_Mutation_p.R637W|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.R625W	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	625					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)		CACTCAGCACCGGAGGATCCA	0.562																																					p.R649W		.											.	ZNF135-91	0			c.C1945T						.	C	,,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81	76	78		,,1909,1945	2.3	1	19	dbSNP_134	78	0,8600		0,0,4300	no	utr-3,intron,missense,missense	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,probably-damaging,probably-damaging	,,637/671,649/683	58579725	1,13005	2203	4300	6503	SO:0001583	missense	7694	exon4			CAGCACCGGAGGA	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.1873C>T	19.37:g.58579725C>T	ENSP00000321406:p.Arg625Trp	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	106	98	NM_007134	0	0	0	4	4	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	C	10.41	1.343634	0.24339	2.27E-4	0.0	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	3.37	2.29	0.28610	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20740	0.0499	M	0.63208	1.945	0.23371	N	0.997819	D;D	0.65815	0.99;0.995	P;P	0.60345	0.851;0.873	T	0.03922	-1.0992	9	0.66056	D	0.02	.	10.9215	0.47167	0.1899:0.8101:0.0:0.0	.	637;625	E9PEV2;P52742	.;ZN135_HUMAN	W	649;625;625;637;583	ENSP00000441410:R649W;ENSP00000444828:R625W;ENSP00000321406:R625W;ENSP00000422074:R637W;ENSP00000427691:R583W	ENSP00000321406:R625W	R	+	1	2	ZNF135	63271537	0.001000	0.12720	0.999000	0.59377	0.014000	0.08584	-0.067000	0.11579	0.738000	0.32606	-0.321000	0.08615	CGG	C|1.000;T|0.000		0.562	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		T	58579725	C	T	58579725	3	4	27	1	0	0	0	0	1	0	0	0	17773	643	23	1	2076	1	ZNF135	19	58579725	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2034807	58579725	549258	347	4907											
ZNF324	25799	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	58982784	58982784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagcgcatccacagcGgcgagacgccctacgcgtgc	12	17	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:58982784G>A	ENST00000536459.2	+	4	1634	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.G86S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G309S			O75467	Z324A_HUMAN	zinc finger protein 324	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CATCCACAGCGGCGAGACGCC	0.697																																					p.G309S		.											.	ZNF324-90	0			c.G925A						.						17	15	16					19																	58982784		2131	4177	6308	SO:0001583	missense	25799	exon4			CACAGCGGCGAGA	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.925G>A	19.37:g.58982784G>A	ENSP00000444812:p.Gly309Ser	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	304	252	NM_014347	0	0	2	4	2	B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038817	0.75617	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.01279	5.06;5.06;5.06	4.38	4.38	0.52667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000665	T	0.06005	0.0156	L	0.55834	1.745	0.41471	D	0.988103	D	0.64830	0.994	D	0.67103	0.949	T	0.22661	-1.0210	10	0.87932	D	0	.	15.241	0.73471	0.0:0.0:1.0:0.0	.	309	O75467	Z324A_HUMAN	S	309;309;299;86	ENSP00000196482:G309S;ENSP00000444812:G309S;ENSP00000439588:G86S	ENSP00000196482:G309S	G	+	1	0	ZNF324	63674596	0.982000	0.34865	0.475000	0.27278	0.845000	0.48019	1.989000	0.40707	2.365000	0.80145	0.455000	0.32223	GGC	.		0.697	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		A	58982784	G	A	58982784	3	1	27	1	0	0	0	0	1	0	0	0	17892	1116	39	1	935	1	ZNF324	19	58982784	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	403059	58982784	146199	348	4908											
MZF1	7593	broad.mit.edu	37	chr19	59082627	59082627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaccggaaacgcaggcGtgcagcttcagggcctgggt	16	11	1	0	rs199500324	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr19:59082627G>A	ENST00000215057.2	-	2	690	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	MZF1_ENST00000594234.1_Missense_Mutation_p.R44C|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.R44C|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.R44C|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	44	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAACGCAGGCGTGCAGCTTCA	0.652																																					p.R44C		.											.	MZF1-91	0			c.C130T						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	24	27	26		130,130	-0.8	0	19		26	1,8599		0,1,4299	no	missense,missense	MZF1	NM_003422.2,NM_198055.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	44/735,44/735	59082627	1,13005	2203	4300	6503	SO:0001583	missense	7593	exon2			GCAGGCGTGCAGC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.130C>T	19.37:g.59082627G>A	ENSP00000215057:p.Arg44Cys	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	94	4	NM_198055	0	0	12	12	0	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.161721	0.57368	0.0	1.16E-4	ENSG00000099326	ENST00000215057	T	0.08282	3.11	4.35	-0.822	0.10819	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.549873	0.15410	N	0.263823	T	0.08626	0.0214	M	0.75884	2.315	0.09310	N	0.999992	B;B	0.21753	0.06;0.005	B;B	0.17433	0.018;0.002	T	0.29119	-1.0022	9	.	.	.	-19.3632	3.0323	0.06110	0.3808:0.0:0.4284:0.1908	.	44;44	Q7Z729;P28698	.;MZF1_HUMAN	C	44	ENSP00000215057:R44C	.	R	-	1	0	MZF1	63774439	0.000000	0.05858	0.006000	0.13384	0.849000	0.48306	0.060000	0.14342	-0.137000	0.11455	0.563000	0.77884	CGC	G|0.999;C|0.000		0.652	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		A	59082627	G	A	59082627	3	1	27	1	0	0	0	0	1	0	0	0	10146	1145	40	1	2094	1	MZF1	19	59082627	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	99843	59082627	46356	349	4909											
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3210042	3210042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggagaaggcgagcaccGcgatgggcagggcgcagtcg	20	9	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:3210042G>A	ENST00000380056.3	-	14	1894	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V	SLC4A11_ENST00000539553.2_Missense_Mutation_p.A600V|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_Missense_Mutation_p.A643V	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	616	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCGAGCACCGCGATGGGCAG	0.672																																					p.A643V	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.C1928T						.						70	66	68					20																	3210042		2203	4300	6503	SO:0001583	missense	83959	exon15			AGCACCGCGATGG	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.1847C>T	20.37:g.3210042G>A	ENSP00000369396:p.Ala616Val	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	127	27	NM_001174090	0	0	1	1	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661944	0.67700	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.81579	-1.51;-1.51;-1.51	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.384688	0.26784	N	0.022505	T	0.77955	0.4208	L	0.48877	1.53	0.48632	D	0.999686	P;P;P	0.45827	0.611;0.867;0.778	B;B;B	0.40901	0.167;0.338;0.343	T	0.81797	-0.0768	10	0.72032	D	0.01	.	18.5979	0.91235	0.0:0.0:1.0:0.0	.	600;643;616	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	V	643;616;600	ENSP00000369399:A643V;ENSP00000369396:A616V;ENSP00000441370:A600V	ENSP00000369396:A616V	A	-	2	0	SLC4A11	3158042	1.000000	0.71417	0.481000	0.27354	0.641000	0.38312	9.807000	0.99171	2.378000	0.81104	0.462000	0.41574	GCG	.		0.672	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			A	3210042	G	A	3210042	3	1	27	1	0	0	0	0	1	0	0	0	14697	1087	38	1	852	1	SLC4A11	20	3210042	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		3210042	59815478	350	4910											
ADAM33	80332	hgsc.bcm.edu	37	chr20	3654433	3654433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccgctgcgcccacagCccccggcgccactgcaggaa	14	18	0	0	rs2271511	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:3654433C>T	ENST00000356518.2	-	9	1105	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ADAM33_ENST00000379861.4_Silent_p.G288G|ADAM33_ENST00000350009.2_Silent_p.G288G|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	288	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						GCGCCCACAGCCCCCGGCGCC	0.771													C|||	1379	0.275359	0.4319	0.1354	5008	,	,		9169	0.2212		0.1869	False		,,,				2504	0.3098				p.G288G		.											.	ADAM33-291	0			c.G864A						.	C	,	1271,2579		236,799,890	4	5	4		864,864	-0.6	0	20	dbSNP_100	4	1108,6216		89,930,2643	no	coding-synonymous,coding-synonymous	ADAM33	NM_025220.2,NM_153202.1	,	325,1729,3533	TT,TC,CC		15.1283,33.013,21.2905	,	288/814,288/788	3654433	2379,8795	1925	3662	5587	SO:0001819	synonymous_variant	80332	exon9			CCACAGCCCCCGG	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.864G>A	20.37:g.3654433C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																			C|0.751;T|0.249		0.771	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		T	3654433	C	T	3654433	2	4	27	1	0	0	0	0	0	0	0	1	250	726	26	3		3	ADAM33	20	3654433	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	444391	3654433	59371087	351	4911											
SIGLEC1	6614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3673211	3673211	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagctgcgggtgccctgGgcatcctgggcctggcaaga	18	12	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:3673211G>T	ENST00000344754.4	-	15	3986	c.3987C>A	c.(3985-3987)gcC>gcA	p.A1329A	SIGLEC1_ENST00000202578.4_Silent_p.A1329A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1329	Ig-like C2-type 13.				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						GGGTGCCCTGGGCATCCTGGG	0.672																																					p.A1329A		.											.	SIGLEC1-167	0			c.C3987A						.						19	21	20					20																	3673211		2202	4300	6502	SO:0001819	synonymous_variant	6614	exon15			GCCCTGGGCATCC	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.3987C>A	20.37:g.3673211G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	56	23	NM_023068	0	0	0	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	2.506	-0.314006	0.05422	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.8	-2.14	0.07123	.	.	.	.	.	T	0.43100	0.1232	.	.	.	0.41875	D	0.99029	.	.	.	.	.	.	T	0.29305	-1.0016	4	.	.	.	.	4.3565	0.11181	0.2579:0.0:0.367:0.375	.	.	.	.	T	143	.	.	P	-	1	0	SIGLEC1	3621211	0.004000	0.15560	0.760000	0.31359	0.281000	0.26958	-0.134000	0.10436	-0.654000	0.05394	-0.169000	0.13324	CCA	.		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		T	3673211	G	T	3673211	2	4	27	1	0	0	0	0	0	0	0	1	14350	1219	43	3		3	SIGLEC1	20	3673211	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	18778	3673211	59352309	352	4912											
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	8609053	8609053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcccatttgaatctcgTggctttccaagaagaagtgg	9	10	2	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:8609053T>G	ENST00000338037.6	+	4	386	c.359T>G	c.(358-360)gTg>gGg	p.V120G	PLCB1_ENST00000378641.3_Missense_Mutation_p.V120G|PLCB1_ENST00000378637.2_Missense_Mutation_p.V120G	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	120					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						TTGAATCTCGTGGCTTTCCAA	0.478																																					p.F120C		.											.	PLCB1-297	0			c.T359G						.						131	115	120					20																	8609053		2203	4300	6503	SO:0001583	missense	23236	exon4			ATCTCGTGGCTTT	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.359T>G	20.37:g.8609053T>G	ENSP00000338185:p.Val120Gly	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	219	83	NM_015192	0	0	2	2	0	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982977	0.74474	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	6.17	6.17	0.99709	.	0.092218	0.85682	D	0.000000	T	0.68550	0.3013	M	0.73962	2.25	0.80722	D	1	P;P;P;D	0.76494	0.858;0.607;0.89;0.999	P;B;P;D	0.68943	0.493;0.124;0.547;0.961	T	0.71961	-0.4434	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	19;120;120;119	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	G	120;120;120;119;40;40	ENSP00000367908:V120G;ENSP00000338185:V120G;ENSP00000367904:V120G;ENSP00000384001:V119G	ENSP00000338185:V120G	V	+	2	0	PLCB1	8557053	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.388000	0.73195	2.371000	0.80710	0.533000	0.62120	GTG	.		0.478	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			G	8609053	T	G	8609053	3	3	27	1	0	0	0	0	1	0	0	0	12066	1696	59	5	373	5	PLCB1	20	8609053	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	4935842	8609053	54416467	353	4913											
ISM1	140862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	13269302	13269302	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgcactgcaacagaatcGaggacctgtgaccgtccaaa	11	12	0	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:13269302G>A	ENST00000262487.4	+	4	765	c.759G>A	c.(757-759)tcG>tcA	p.S253S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	253	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)		p.C248fs*22(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAACAGAATCGAGGACCTGTG	0.517																																					p.S253S		.											.	ISM1-68	1	Deletion - Frameshift(1)	NS(1)	c.G759A						.						81	87	85					20																	13269302		2009	4189	6198	SO:0001819	synonymous_variant	140862	exon4			AGAATCGAGGACC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.759G>A	20.37:g.13269302G>A		Somatic	153	0		WXS	Illumina GAIIx	Phase_I	233	104	NM_080826	0	0	6	9	3	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																			.		0.517	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			A	13269302	G	A	13269302	2	1	27	1	0	0	0	0	0	0	0	1	7887	1045	37	1		1	ISM1	20	13269302	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4660249	13269302	49756218	354	4914											
RRBP1	6238	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	17622479	17622479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctcttggcgacagccGcatcttcctgttctgtggcc	11	13	3	0	rs146531264		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:17622479G>A	ENST00000377813.1	-	5	2450	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	RRBP1_ENST00000377807.2_Missense_Mutation_p.A283V|RRBP1_ENST00000455029.2_Missense_Mutation_p.A57V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A716V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A283V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	716					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.L275_V285delLLATEQEDAAV(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCGACAGCCGCATCTTCCTG	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		19926	0		0	False		,,,				2504	0				p.A283V		.											.	RRBP1-92	1	Deletion - In frame(1)	breast(1)	c.C848T						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	142	124	130		848,848	6.1	0.2	20	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	64,64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	283/978,283/978	17622479	3,13003	2203	4300	6503	SO:0001583	missense	6238	exon5			ACAGCCGCATCTT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2147C>T	20.37:g.17622479G>A	ENSP00000367044:p.Ala716Val	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	151	14	NM_004587	1	0	279	304	24	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.98	3.270336	0.59540	0.0	3.49E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	6.08	6.08	0.98989	.	0.000000	0.37348	N	0.002138	T	0.37732	0.1014	M	0.64170	1.965	0.58432	D	0.999999	D	0.58620	0.983	P	0.52957	0.714	T	0.00809	-1.1557	10	0.35671	T	0.21	-25.9779	19.6516	0.95815	0.0:0.0:1.0:0.0	.	283	Q9P2E9-3	.	V	283;716;283;716;57	ENSP00000354045:A283V;ENSP00000367044:A716V;ENSP00000367038:A283V;ENSP00000246043:A716V;ENSP00000401206:A57V	ENSP00000246043:A716V	A	-	2	0	RRBP1	17570479	1.000000	0.71417	0.245000	0.24217	0.382000	0.30200	5.124000	0.64709	2.894000	0.99253	0.655000	0.94253	GCG	G|0.999;A|0.001		0.572	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		A	17622479	G	A	17622479	3	1	27	1	0	0	0	0	1	0	0	0	13723	1087	38	1	2169	1	RRBP1	20	17622479	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	4353177	17622479	45403041	355	4915											
RBBP9	10741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	18471080	18471080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaagtctgatgtgtacGcagacactaatacaatagca	7	12	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:18471080G>A	ENST00000337227.4	-	4	368	c.293C>T	c.(292-294)gCg>gTg	p.A98V	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	98					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TGATGTGTACGCAGACACTAA	0.408																																					p.A98V		.											.	RBBP9-227	0			c.C293T						.						158	140	146					20																	18471080		2203	4300	6503	SO:0001583	missense	10741	exon4			GTGTACGCAGACA	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.293C>T	20.37:g.18471080G>A	ENSP00000336866:p.Ala98Val	Somatic	223	0		WXS	Illumina GAIIx	Phase_I	248	116	NM_006606	0	0	7	16	9	D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350862	0.82132	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	5.26	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.76615	0.4012	M	0.79614	2.46	0.45676	D	0.998592	D	0.89917	1.0	D	0.72625	0.978	T	0.77032	-0.2738	9	0.41790	T	0.15	-9.6629	11.6719	0.51406	0.0851:0.0:0.9149:0.0	.	98	O75884	RBBP9_HUMAN	V	98	.	ENSP00000336866:A98V	A	-	2	0	RBBP9	18419080	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	6.413000	0.73308	1.455000	0.47813	0.655000	0.94253	GCG	.		0.408	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		A	18471080	G	A	18471080	3	1	27	1	0	0	0	0	1	0	0	0	13151	1087	38	1	275	1	RBBP9	20	18471080	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	848601	18471080	44554440	356	4916											
CST9	128822	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	23586287	23586287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatgaactcaggacgCgcaacagcctgtaggcatgc	10	15	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:23586287C>T	ENST00000376971.3	-	1	226	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	72						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ACTCAGGACGCGCAACAGCCT	0.522																																					p.R72H		.											.	CST9-91	0			c.G215A						.						242	181	202					20																	23586287		2203	4300	6503	SO:0001583	missense	128822	exon1			AGGACGCGCAACA	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.215G>A	20.37:g.23586287C>T	ENSP00000366170:p.Arg72His	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	253	107	NM_001008693	0	0	0	0	0	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185722	0.06340	.	.	ENSG00000173335	ENST00000376971	T	0.28666	1.6	2.84	-2.67	0.06059	Proteinase inhibitor I25, cystatin (1);	0.955581	0.08516	N	0.934168	T	0.13586	0.0329	N	0.05230	-0.09	0.09310	N	1	B	0.18310	0.027	B	0.16722	0.016	T	0.28870	-1.0030	10	0.34782	T	0.22	.	7.6809	0.28513	0.0:0.3501:0.0:0.6499	.	72	Q5W186	CST9_HUMAN	H	72	ENSP00000366170:R72H	ENSP00000366170:R72H	R	-	2	0	CST9	23534287	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.816000	0.04477	-0.646000	0.05452	-0.966000	0.02617	CGC	.		0.522	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		T	23586287	C	T	23586287	3	4	27	1	0	0	0	0	1	0	0	0	3988	768	27	1	272	1	CST9	20	23586287	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5115207	23586287	39439233	357	4917											
NCOA6	23054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	33329666	33329666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaagtttgttaggatccGaaggctgcccatcctttttg	12	8	0	0	rs373923954		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:33329666G>A	ENST00000374796.2	-	12	6964	c.4394C>T	c.(4393-4395)tCg>tTg	p.S1465L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1465L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTTAGGATCCGAAGGCTGCCC	0.438																																					p.S1465L		.											.	NCOA6-292	0			c.C4394T						.	G	,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	106	99	101		,4394	-8.2	0	20		101	0,8600		0,0,4300	no	intron,missense	NCOA6	NM_001242539.1,NM_014071.3	,145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign	,1465/2064	33329666	2,13004	2203	4300	6503	SO:0001583	missense	23054	exon11			GGATCCGAAGGCT	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4394C>T	20.37:g.33329666G>A	ENSP00000363929:p.Ser1465Leu	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	212	113	NM_014071	0	0	24	49	25	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.210694	0.01555	4.54E-4	0.0	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.19394	2.15;2.15	5.23	-8.2	0.01045	.	0.910059	0.09333	N	0.816631	T	0.07052	0.0179	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	10	0.02654	T	1	8.7943	19.44	0.94815	0.8756:0.0:0.1244:0.0	.	1465	Q14686	NCOA6_HUMAN	L	1465	ENSP00000363929:S1465L;ENSP00000351894:S1465L	ENSP00000351894:S1465L	S	-	2	0	NCOA6	32793327	0.000000	0.05858	0.004000	0.12327	0.991000	0.79684	-0.885000	0.04161	-1.927000	0.01060	-0.216000	0.12614	TCG	.		0.438	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33329666	G	A	33329666	3	1	27	1	0	0	0	0	1	0	0	0	10272	1059	37	1	1817	1	NCOA6	20	33329666	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	9743379	33329666	29695854	358	4918											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	13	NM_024855	0	0	0	1	1	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	27	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4047473	37377139	25648381	359	4919											
ADA	100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43251246	43251246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaatgactgcatgctcCgtgtccggcttccaggcacc	10	16	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:43251246C>T	ENST00000372874.4	-	9	962	c.828G>A	c.(826-828)acG>acA	p.T276T	ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Silent_p.T252T|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	276					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGCATGCTCCGTGTCCGGCT	0.582									Adenosine Deaminase Deficiency																												p.T276T		.											.	ADA-653	0			c.G828A						.						59	56	57					20																	43251246		2203	4300	6503	SO:0001819	synonymous_variant	100	exon9	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	ATGCTCCGTGTCC	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.828G>A	20.37:g.43251246C>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	199	84	NM_000022	0	0	5	7	2	Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	CCDS13335.1																																																																																			.		0.582	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		T	43251246	C	T	43251246	2	4	27	1	0	0	0	0	0	0	0	1	230	639	23	1		1	ADA	20	43251246	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5874107	43251246	19774274	360	4920											
ZBP1	81030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	56186832	56186832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctcggacgggacgccGtggagcctcatctcattgct	14	14	2	0	rs370372910		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:56186832G>A	ENST00000371173.3	-	6	1002	c.825C>T	c.(823-825)caC>caT	p.H275H	ZBP1_ENST00000395822.3_Silent_p.H200H|ZBP1_ENST00000340462.4_Silent_p.H252H|ZBP1_ENST00000343535.4_Silent_p.H275H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	275					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.H275H(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			ACGGGACGCCGTGGAGCCTCA	0.657																																					p.H275H		.											.	ZBP1-228	1	Substitution - coding silent(1)	prostate(1)	c.C825T						.	G	,,	0,4406		0,0,2203	33	35	34		822,600,825	0.9	0	20		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	274/429,200/355,275/430	56186832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030	exon6			GACGCCGTGGAGC	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.825C>T	20.37:g.56186832G>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	136	26	NM_030776	0	0	0	0	0	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1																																																																																			.		0.657	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56186832	G	A	56186832	2	1	27	1	0	0	0	0	0	0	0	1	17569	1136	40	1		1	ZBP1	20	56186832	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	12935586	56186832	6838688	361	4921											
SLMO2	51012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	57611597	57611597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggctaactcctttcaCggtaattatggcttcttgtg	10	9	2	1	rs377376798		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:57611597C>T	ENST00000355937.4	-	5	572	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	SLMO2_ENST00000371033.5_Missense_Mutation_p.V102M	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	132	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTCCTTTCACGGTAATTATG	0.373																																					p.V132M		.											.	SLMO2-45	0			c.G394A						.	C	MET/VAL	0,3802		0,0,1901	125	112	116		394	5.1	1	20		116	1,8267		0,1,4133	no	missense	SLMO2	NM_016045.2	21	0,1,6034	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	132/195	57611597	1,12069	1901	4134	6035	SO:0001583	missense	51012	exon5			CTTTCACGGTAAT	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.394G>A	20.37:g.57611597C>T	ENSP00000348206:p.Val132Met	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	236	105	NM_016045	0	0	28	50	22	E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766137	0.90020	0.0	1.21E-4	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.21361	2.01;2.01	5.14	5.14	0.70334	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	H	0.94183	3.505	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.60886	0.828;0.88	T	0.70267	-0.4919	10	0.62326	D	0.03	-6.4964	17.5833	0.87973	0.0:1.0:0.0:0.0	.	102;132	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	M	132;102	ENSP00000348206:V132M;ENSP00000360072:V102M	ENSP00000348206:V132M	V	-	1	0	SLMO2	57044992	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	7.421000	0.80204	2.389000	0.81357	0.655000	0.94253	GTG	.		0.373	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		T	57611597	C	T	57611597	3	4	27	1	0	0	0	0	1	0	0	0	14796	536	19	1	198	1	SLMO2	20	57611597	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	1424765	57611597	5413923	362	4922											
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	58452496	58452496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttgttcacactctgattCtgaatttgagagatctttat	6	7	5	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:58452496C>T	ENST00000357552.3	-	33	3319	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1032K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1032					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)			CACTCTGATTCTGAATTTGAG	0.308																																					p.E1032K		.											.	SYCP2-525	0			c.G3094A						.						54	56	55					20																	58452496		2201	4296	6497	SO:0001583	missense	10388	exon32			CTGATTCTGAATT	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.3094G>A	20.37:g.58452496C>T	ENSP00000350162:p.Glu1032Lys	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	43	20	NM_014258	0	0	2	4	2	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828506	0.90955	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.39787	1.06;1.06	5.57	5.57	0.84162	.	0.169621	0.41712	D	0.000832	T	0.62282	0.2415	M	0.66939	2.045	0.37865	D	0.929864	D	0.71674	0.998	D	0.72338	0.977	T	0.66771	-0.5839	10	0.56958	D	0.05	-13.2622	15.0506	0.71865	0.0:1.0:0.0:0.0	.	1032	Q9BX26	SYCP2_HUMAN	K	1032	ENSP00000360040:E1032K;ENSP00000350162:E1032K	ENSP00000350162:E1032K	E	-	1	0	SYCP2	57885891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.347000	0.59373	2.636000	0.89361	0.491000	0.48974	GAA	.		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58452496	C	T	58452496	3	4	27	1	0	0	0	0	1	0	0	0	15479	922	32	3	1550	3	SYCP2	20	58452496	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	840899	58452496	4573024	363	4923											
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60348149	60348149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaccagaacgccaacGggctgaggcggcgcaaacgg	14	15	0	2	rs143400273	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:60348149G>A	ENST00000360469.5	+	4	575	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	CDH4_ENST00000543233.1_Missense_Mutation_p.G89R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	163					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAACGCCAACGGGCTGAGGCG	0.657													G|||	4	0.000798722	0.003	0	5008	,	,		14364	0		0	False		,,,				2504	0				p.G163R		.											.	CDH4-282	0			c.G487A						.	G	ARG/GLY	7,4399	11.4+/-27.6	0,7,2196	30	28	29		487	4.8	0.4	20	dbSNP_134	29	0,8600		0,0,4300	yes	missense	CDH4	NM_001794.2	125	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	163/917	60348149	7,12999	2203	4300	6503	SO:0001583	missense	1002	exon4			GCCAACGGGCTGA	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.487G>A	20.37:g.60348149G>A	ENSP00000353656:p.Gly163Arg	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	298	145	NM_001794	0	0	5	9	4	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.82	2.351726	0.41700	0.001589	0.0	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61158	0.13;0.13	4.84	4.84	0.62591	Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59815	-0.7383	9	.	.	.	.	17.9449	0.89036	0.0:0.0:1.0:0.0	.	163	P55283	CADH4_HUMAN	R	163;71;89	ENSP00000353656:G163R;ENSP00000443301:G89R	.	G	+	1	0	CDH4	59781544	1.000000	0.71417	0.363000	0.25875	0.018000	0.09664	7.080000	0.76837	2.221000	0.72209	0.655000	0.94253	GGG	G|0.999;A|0.001		0.657	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60348149	G	A	60348149	3	1	27	1	0	0	0	0	1	0	0	0	3119	1116	39	1	501	1	CDH4	20	60348149	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1895653	60348149	2677371	364	4924											
LAMA5	3911	broad.mit.edu;bcgsc.ca	37	chr20	60891828	60891828	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccctgccgcaccaccGtctgtggatgccagggcaga	13	16	1	1	rs571233072		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:60891828G>A	ENST00000252999.3	-	57	7721	c.7655C>T	c.(7654-7656)aCg>aTg	p.T2552M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2552	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCACCACCGTCTGTGGATG	0.687													.|||	1	0.000199681	0	0.0014	5008	,	,		18198	0		0	False		,,,				2504	0				p.T2552M		.											.	LAMA5-93	0			c.C7655T						.						19	16	17					20																	60891828		2173	4271	6444	SO:0001630	splice_region_variant	3911	exon57			ACCACCGTCTGTG	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.7654-1C>T	20.37:g.60891828G>A		Somatic	113	1		WXS	Illumina GAIIx	Phase_I	155	8	NM_005560	0	0	1	1	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	9.679	1.148742	0.21288	.	.	ENSG00000130702	ENST00000252999	T	0.20463	2.07	3.79	-3.7	0.04437	.	0.748580	0.12809	N	0.437339	T	0.08582	0.0213	N	0.10809	0.05	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.35325	-0.9793	10	0.21014	T	0.42	.	9.1278	0.36826	0.735:0.0:0.265:0.0	.	2552	O15230	LAMA5_HUMAN	M	2552	ENSP00000252999:T2552M	ENSP00000252999:T2552M	T	-	2	0	LAMA5	60325223	0.004000	0.15560	0.001000	0.08648	0.223000	0.24884	-0.026000	0.12392	-0.583000	0.05921	0.306000	0.20318	ACG	.		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Missense_Mutation	A	60891828	G	A	60891828	5	1	27	1	0	0	0	0	0	0	1	0	8637	1159	40	1	3528	1	LAMA5	20	60891828	Splice_Site	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	543679	60891828	2133692	365	4925											
RTEL1	51750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62297419	62297419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggacttggtcaagagcGgaagcaagcacaggtgagac	15	7	1	3			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:62297419G>A	ENST00000360203.5	+	7	926	c.601G>A	c.(601-603)Gga>Aga	p.G201R	RTEL1_ENST00000508582.2_Missense_Mutation_p.G225R|RTEL1_ENST00000370018.3_Missense_Mutation_p.G201R|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G201R|RTEL1_ENST00000318100.4_Missense_Mutation_p.G201R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGTCAAGAGCGGAAGCAAGCA	0.582																																					p.G225R		.											.	RTEL1-44	0			c.G673A						.						79	63	69					20																	62297419		2203	4300	6503	SO:0001583	missense	51750	exon7			AAGAGCGGAAGCA	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.601G>A	20.37:g.62297419G>A	ENSP00000353332:p.Gly201Arg	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	145	65	NM_032957	0	0	0	0	0		Missense_Mutation	SNP	ENST00000360203.5	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716027	0.89205	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.09	5.09	0.68999	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	H	0.98048	4.135	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;0.999	D	0.94323	0.7555	10	0.87932	D	0	-35.8507	15.9896	0.80193	0.0:0.0:1.0:0.0	.	225;225;201;201	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	201;201;225;201;251	ENSP00000359035:G201R;ENSP00000322287:G201R;ENSP00000424307:G225R;ENSP00000353332:G201R;ENSP00000349265:G251R	ENSP00000349265:G251R	G	+	1	0	AL353715.1	61767863	1.000000	0.71417	0.390000	0.26220	0.974000	0.67602	7.927000	0.87577	2.518000	0.84900	0.561000	0.74099	GGA	.		0.582	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		A	62297419	G	A	62297419	3	1	27	1	0	0	0	0	1	0	0	0	13765	1117	39	1	623	1	RTEL1	20	62297419	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1405591	62297419	728101	366	4926											
RTEL1	51750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62309673	62309673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgagctgcctggagaCgacagcggtgtcaccaagcc	14	12	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr20:62309673C>T	ENST00000360203.5	+	12	1336	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	RTEL1_ENST00000508582.2_Silent_p.D361D|RTEL1_ENST00000370018.3_Silent_p.D337D|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.D337D|RTEL1_ENST00000318100.4_Silent_p.D337D					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGCCTGGAGACGACAGCGGTG	0.662																																					p.D361D		.											.	RTEL1-44	0			c.C1083T						.						40	39	39					20																	62309673		2203	4300	6503	SO:0001819	synonymous_variant	51750	exon12			TGGAGACGACAGC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1011C>T	20.37:g.62309673C>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	113	37	NM_032957	0	0	9	19	10		Silent	SNP	ENST00000360203.5	37																																																																																				.		0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		T	62309673	C	T	62309673	2	4	27	1	0	0	0	0	0	0	0	1	13765	535	19	1		1	RTEL1	20	62309673	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	12254	62309673	715847	367	4927											
GRIK1	2897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	31062246	31062246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagactgcacagcactgaCggaggagctatgggaagggc	15	8	0	2	rs142436130		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr21:31062246C>T	ENST00000399907.1	-	3	757	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	GRIK1_ENST00000389125.3_Missense_Mutation_p.V116I|GRIK1_ENST00000309434.7_Missense_Mutation_p.V116I|GRIK1_ENST00000399913.1_Missense_Mutation_p.V116I|GRIK1_ENST00000389124.2_Missense_Mutation_p.V116I|GRIK1_ENST00000327783.4_Missense_Mutation_p.V116I|GRIK1_ENST00000535441.1_Missense_Mutation_p.V116I|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.V116I|GRIK1_ENST00000399909.1_Missense_Mutation_p.V116I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	116					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ACAGCACTGACGGAGGAGCTA	0.537																																					p.V116I		.											.	GRIK1-137	0			c.G346A						.	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	94	87	89		346,346	5.2	1	21	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GRIK1	NM_000830.3,NM_175611.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	116/919,116/906	31062246	1,13005	2203	4300	6503	SO:0001583	missense	2897	exon3			CACTGACGGAGGA		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.346G>A	21.37:g.31062246C>T	ENSP00000382791:p.Val116Ile	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	114	14	NM_175611	0	0	0	0	0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762681	0.89932	0.0	1.16E-4	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.17	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.36672	1.1	0.80722	D	1	P;P;P;P;P	0.45957	0.761;0.869;0.869;0.869;0.842	B;B;B;B;B	0.42959	0.403;0.403;0.403;0.403;0.281	T	0.82084	-0.0632	10	0.56958	D	0.05	.	18.468	0.90762	0.0:1.0:0.0:0.0	.	116;116;116;116;116	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	I	116;116;116;116;116;60;116;116;116;116	ENSP00000327687:V116I;ENSP00000373777:V116I;ENSP00000382797:V116I;ENSP00000382798:V116I;ENSP00000446326:V116I;ENSP00000373776:V116I;ENSP00000382791:V116I;ENSP00000382793:V116I;ENSP00000311646:V116I	ENSP00000311646:V116I	V	-	1	0	GRIK1	29984117	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	5.553000	0.67287	2.671000	0.90904	0.655000	0.94253	GTC	C|1.000;T|0.000		0.537	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	31062246	C	T	31062246	3	4	27	1	0	0	0	0	1	0	0	0	6800	536	19	1	2630	1	GRIK1	21	31062246	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		31062246	17067649	368	4928											
RRP1B	23076	ucsc.edu;bcgsc.ca	37	chr21	45107797	45107797	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagggacctagagggtccccGacaggtggagcccaactcct	13	14	0	1	rs143773984		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr21:45107797G>A	ENST00000340648.4	+	13	1659	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	514					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAGGGTCCCCGACAGGTGGAG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		15780	0		0	False		,,,				2504	0				p.P514P		.											.	RRP1B-91	0			c.G1542A						.	G		4,4396		0,4,2196	42	42	42		1542	-9.9	0	21	dbSNP_134	42	0,8594		0,0,4297	no	coding-synonymous	RRP1B	NM_015056.2		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		514/759	45107797	4,12990	2200	4297	6497	SO:0001819	synonymous_variant	23076	exon13			GTCCCCGACAGGT	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1542G>A	21.37:g.45107797G>A		Somatic	175	2		WXS	Illumina GAIIx	Phase_I	105	94	NM_015056	0	0	0	7	7	Q8TBZ4	Silent	SNP	ENST00000340648.4	37	CCDS33577.1																																																																																			G|1.000;A|0.000		0.607	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		A	45107797	G	A	45107797	2	1	27	1	0	0	0	0	0	0	0	1	13733	1045	37	1		1	RRP1B	21	45107797	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	14045551	45107797	3022098	369	4929											
COL6A2	1292	broad.mit.edu;bcgsc.ca	37	chr21	47539706	47539706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgttctctgcaggggcGcaggggagaccccggcacca	15	15	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr21:47539706G>A	ENST00000300527.4	+	15	1378	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	COL6A2_ENST00000357838.4_Missense_Mutation_p.R425H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R425H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R425H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R425H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	425	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGCAGGGGCGCAGGGGAGAC	0.692																																					p.R425H		.											.	COL6A2-515	0			c.G1274A						.						17	19	18					21																	47539706		2147	4233	6380	SO:0001583	missense	1292	exon15			AGGGGCGCAGGGG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1274G>A	21.37:g.47539706G>A	ENSP00000300527:p.Arg425His	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	121	6	NM_058175	0	0	0	0	0	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310984	0.60414	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94039	0.8090	L	0.31926	0.97	0.53005	D	0.999968	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.71870	0.969;0.975;0.948	D	0.93981	0.7258	10	0.45353	T	0.12	-23.3445	15.1594	0.72771	0.0:0.0:1.0:0.0	.	425;425;425	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	425	ENSP00000300527:R425H;ENSP00000350497:R425H;ENSP00000312529:R425H;ENSP00000387115:R425H;ENSP00000380870:R425H	ENSP00000300527:R425H	R	+	2	0	COL6A2	46364134	0.985000	0.35326	1.000000	0.80357	0.969000	0.65631	4.237000	0.58681	2.239000	0.73571	0.591000	0.81541	CGC	.		0.692	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47539706	G	A	47539706	3	1	27	1	0	0	0	0	1	0	0	0	3707	1087	38	1	1328	1	COL6A2	21	47539706	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	2431909	47539706	590189	370	4930											
TUBA8	51807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18609364	18609364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgctttcatggtggacaacGaagccatctatgacatctgc	10	10	3	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:18609364G>A	ENST00000330423.3	+	4	692	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E141K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	207					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGTGGACAACGAAGCCATCTA	0.532																																					p.E207K		.											.	TUBA8-90	0			c.G619A						.						175	152	160					22																	18609364		2203	4300	6503	SO:0001583	missense	51807	exon4			GACAACGAAGCCA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.619G>A	22.37:g.18609364G>A	ENSP00000333326:p.Glu207Lys	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	144	123	NM_018943	0	0	0	2	2	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.162025	0.78226	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.70631	-0.5;-0.5;-0.5	5.67	5.67	0.87782	Tubulin/FtsZ, GTPase domain (4);	0.049921	0.85682	D	0.000000	D	0.88976	0.6584	H	0.95187	3.635	0.80722	D	1	P;D;D	0.89917	0.911;0.995;1.0	B;P;D	0.67900	0.256;0.684;0.954	D	0.91554	0.5259	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	141;231;207	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	K	141;207;231	ENSP00000318575:E141K;ENSP00000333326:E207K;ENSP00000412646:E231K	ENSP00000318575:E141K	E	+	1	0	TUBA8	16989364	1.000000	0.71417	0.769000	0.31535	0.989000	0.77384	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAA	.		0.532	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		A	18609364	G	A	18609364	3	1	27	1	0	0	0	0	1	0	0	0	16799	1059	37	1	633	1	TUBA8	22	18609364	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10		18609364	32695202	371	4931											
DGCR8	54487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	20073745	20073745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctaagggccgcctcctcAtagacccgaactgtagtggc	10	14	2	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:20073745A>G	ENST00000351989.3	+	2	688	c.259A>G	c.(259-261)Ata>Gta	p.I87V	DGCR8_ENST00000407755.1_Missense_Mutation_p.I87V|DGCR8_ENST00000383024.2_Missense_Mutation_p.I87V|MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	87	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)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCGCCTCCTCATAGACCCGAA	0.572																																					p.I87V		.											.	DGCR8-90	0			c.A259G						.						54	58	57					22																	20073745		2203	4300	6503	SO:0001583	missense	54487	exon2			CTCCTCATAGACC	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.259A>G	22.37:g.20073745A>G	ENSP00000263209:p.Ile87Val	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	84	12	NM_001190326	0	0	3	3	0	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441510	0.25900	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000457069;ENST00000407755	T;T;T	0.30448	1.54;1.53;1.53	5.42	4.39	0.52855	.	0.230615	0.51477	N	0.000091	T	0.17323	0.0416	N	0.19112	0.55	0.31193	N	0.700677	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.10337	-1.0634	10	0.30854	T	0.27	-7.2701	6.3156	0.21188	0.7572:0.1595:0.0832:0.0	.	87;87	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	87	ENSP00000263209:I87V;ENSP00000372488:I87V;ENSP00000384726:I87V	ENSP00000263209:I87V	I	+	1	0	DGCR8	18453745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.046000	0.30354	1.097000	0.41459	0.402000	0.26972	ATA	.		0.572	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			G	20073745	A	G	20073745	3	3	27	1	0	0	0	0	1	0	0	0	4478	217	8	4	261	4	DGCR8	22	20073745	Missense_Mutation	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1464381	20073745	31230821	372	4932											
PIWIL3	440822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	25150089	25150089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcataagcagtttctattCggagcagtttgtggctcaca	9	8	3	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:25150089C>T	ENST00000332271.5	-	8	1285	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R181Q|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R181Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	290	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.R290P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTTTCTATTCGGAGCAGTTT	0.403																																					p.R290Q		.											.	PIWIL3-93	1	Substitution - Missense(1)	ovary(1)	c.G869A						.						124	122	123					22																	25150089		2203	4300	6503	SO:0001583	missense	440822	exon8			TCTATTCGGAGCA	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.869G>A	22.37:g.25150089C>T	ENSP00000330031:p.Arg290Gln	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	104	96	NM_001008496	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677197	0.29783	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.15487	2.42;2.42;2.42	2.42	0.293	0.15742	Argonaute/Dicer protein, PAZ (1);	0.000000	0.64402	U	0.000001	T	0.39200	0.1069	M	0.87180	2.865	0.20403	N	0.999903	D;D;D	0.89917	1.0;0.994;0.999	D;P;P	0.91635	0.999;0.821;0.883	T	0.11108	-1.0601	10	0.72032	D	0.01	-3.4131	6.187	0.20503	0.0:0.7142:0.0:0.2858	.	181;290;290	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	290;181;181	ENSP00000330031:R290Q;ENSP00000431843:R181Q;ENSP00000435718:R181Q	ENSP00000330031:R290Q	R	-	2	0	PIWIL3	23480089	0.910000	0.30920	0.009000	0.14445	0.073000	0.16967	1.356000	0.34079	0.138000	0.18790	0.462000	0.41574	CGA	.		0.403	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		T	25150089	C	T	25150089	3	4	27	1	0	0	0	0	1	0	0	0	11998	884	31	1	1835	1	PIWIL3	22	25150089	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	5076344	25150089	26154477	373	4933											
SFI1	9814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	31971289	31971289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagcaggcctgggagcGgagggagagcttgtacgctc	18	10	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:31971289G>A	ENST00000400288.2	+	10	1100	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	SFI1_ENST00000432498.1_Missense_Mutation_p.R332Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R250Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R179Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R179Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R250Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R308Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	332					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCCTGGGAGCGGAGGGAGAGC	0.532																																					p.R332Q		.											.	SFI1-90	0			c.G995A						.						60	67	65					22																	31971289		2024	4188	6212	SO:0001583	missense	9814	exon10			GGGAGCGGAGGGA	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.995G>A	22.37:g.31971289G>A	ENSP00000383145:p.Arg332Gln	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	119	28	NM_001007467	0	0	2	2	0	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	3.209	-0.161975	0.06502	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.10099	3.08;3.06;2.93;2.92;2.91;2.93;3.13	5.49	-3.85	0.04243	.	1.571600	0.02984	N	0.146079	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.30021	0.002;0.002;0.001;0.003;0.003;0.265	B;B;B;B;B;B	0.26864	0.004;0.007;0.005;0.004;0.003;0.074	T	0.32640	-0.9899	10	0.20046	T	0.44	.	11.6008	0.51001	0.5934:0.0:0.4066:0.0	.	308;250;250;332;332;308	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	Q	332;308;250;308;179;179;250;332	ENSP00000402679:R332Q;ENSP00000443025:R308Q;ENSP00000416469:R250Q;ENSP00000397148:R179Q;ENSP00000401199:R179Q;ENSP00000383146:R250Q;ENSP00000383145:R332Q	ENSP00000383145:R332Q	R	+	2	0	SFI1	30301289	0.082000	0.21442	0.001000	0.08648	0.008000	0.06430	-0.302000	0.08221	-0.741000	0.04797	-2.048000	0.00412	CGG	.		0.532	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		A	31971289	G	A	31971289	3	1	27	1	0	0	0	0	1	0	0	0	14201	1116	39	1	1029	1	SFI1	22	31971289	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	6821200	31971289	19333277	374	4934											
TRIOBP	11078	broad.mit.edu	37	chr22	38121765	38121765	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgtgcattggacacCgagatgccccccgggcgtcc	13	15	0	1	rs118204030		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:38121765C>T	ENST00000406386.3	+	7	3457	c.3202C>T	c.(3202-3204)Cga>Tga	p.R1068*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1068					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)					CATTGGACACCGAGATGCCCC	0.652																																					p.R1068X		.											.	TRIOBP-136	0			c.C3202T	GRCh37	CD060673|CM067725	TRIOBP	D|M	rs118204030	.						54	59	57					22																	38121765		1874	4082	5956	SO:0001587	stop_gained	11078	exon7			GGACACCGAGATG	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.3202C>T	22.37:g.38121765C>T	ENSP00000384312:p.Arg1068*	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	43	8	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	39	7.805609	0.98498	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.67	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0314	0.42103	0.2013:0.7987:0.0:0.0	.	.	.	.	X	1068	.	ENSP00000384312:R1068X	R	+	1	2	TRIOBP	36451711	1.000000	0.71417	0.994000	0.49952	0.448000	0.32197	2.267000	0.43329	1.173000	0.42796	-0.556000	0.04195	CGA	.		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38121765	C	T	38121765	4	4	27	1	0	0	0	0	0	1	0	0	16601	644	23	1	3220	1	TRIOBP	22	38121765	Nonsense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6150476	38121765	13182801	375	4935											
SAPS2	9701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50845169	50845169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgtgccgcagatcagCgaccgcctcggtggggacga	16	11	1	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chr22:50845169C>T	ENST00000216061.5	+	5	649	c.279C>T	c.(277-279)agC>agT	p.S93S	PPP6R2_ENST00000395744.3_Silent_p.S93S|PPP6R2_ENST00000359139.3_Silent_p.S93S|PPP6R2_ENST00000395741.3_Silent_p.S93S			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	93						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGCAGATCAGCGACCGCCTCG	0.537																																					p.S93S		.											.	PPP6R2-92	0			c.C279T						.						173	167	169					22																	50845169		2203	4300	6503	SO:0001819	synonymous_variant	9701	exon4			GATCAGCGACCGC	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.279C>T	22.37:g.50845169C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	48	18	NM_001242898	0	0	10	17	7	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37																																																																																				.		0.537	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		T	50845169	C	T	50845169	2	4	27	1	0	0	0	0	0	0	0	1	13882	767	27	1		1	SAPS2	22	50845169	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	12723404	50845169	459397	376	4936											
MXRA5	25878	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chrX	3228791	3228791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtatggagctggcagaaCcacaccctcgggaaaagccc	11	12	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:3228791C>T	ENST00000217939.6	-	7	7607	c.7453G>A	c.(7453-7455)Gtt>Att	p.V2485I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2485	Ig-like C2-type 9.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCAGAACCACACCCTCG	0.572																																					p.V2485I		.											.	MXRA5-136	0			c.G7453A						.						52	37	42					X																	3228791		2203	4299	6502	SO:0001583	missense	25878	exon7			GCAGAACCACACC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7453G>A	X.37:g.3228791C>T	ENSP00000217939:p.Val2485Ile	Somatic	398	2		WXS	Illumina GAIIx	Phase_I	558	314	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.774168	0.00640	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67523	-0.27	3.86	-0.983	0.10263	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.246451	0.20911	U	0.083472	T	0.35307	0.0927	N	0.17248	0.465	0.26221	N	0.979154	B	0.30406	0.278	B	0.25614	0.062	T	0.38564	-0.9655	10	0.05351	T	0.99	.	4.9591	0.14057	0.0:0.2985:0.1571:0.5444	.	2485	Q9NR99	MXRA5_HUMAN	I	2485	ENSP00000217939:V2485I	ENSP00000217939:V2485I	V	-	1	0	MXRA5	3238791	0.075000	0.21258	0.001000	0.08648	0.002000	0.02628	0.066000	0.14489	-0.219000	0.10003	-0.196000	0.12772	GTT	.		0.572	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3228791	C	T	3228791	3	4	27	1	0	0	0	0	1	0	0	0	10041	507	18	3	1037	3	MXRA5	23	3228791	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10		3228791	152041769	377	4937											
CDKL5	6792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	18525233	18525233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgaagattcctaacaTtggtaatgtgatgaataaat	7	5	1	4			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:18525233T>G	ENST00000379989.3	+	3	302	c.17T>G	c.(16-18)aTt>aGt	p.I6S	CDKL5_ENST00000379996.3_Missense_Mutation_p.I6S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	6					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)					ATTCCTAACATTGGTAATGTG	0.378																																					p.I6S		.											.	CDKL5-838	0			c.T17G						.						255	210	225					X																	18525233		2203	4300	6503	SO:0001583	missense	6792	exon2			CTAACATTGGTAA	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.17T>G	X.37:g.18525233T>G	ENSP00000369325:p.Ile6Ser	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	277	134	NM_003159	0	0	0	0	0	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.825100	0.71143	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71579	-0.58;-0.58	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.116928	0.56097	D	0.000028	T	0.64371	0.2592	N	0.08118	0	0.41396	D	0.987641	D	0.67145	0.996	P	0.54544	0.755	T	0.73097	-0.4090	10	0.72032	D	0.01	-17.7337	14.525	0.67881	0.0:0.0:0.0:1.0	.	6	O76039	CDKL5_HUMAN	S	6	ENSP00000369332:I6S;ENSP00000369325:I6S	ENSP00000369325:I6S	I	+	2	0	CDKL5	18435154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.115000	0.77110	1.810000	0.52873	0.481000	0.45027	ATT	.		0.378	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		G	18525233	T	G	18525233	3	3	27	1	0	0	0	0	1	0	0	0	3164	1493	52	5	19	5	CDKL5	23	18525233	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	15296442	18525233	136745327	378	4938											
NYX	60506	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	41333840	41333840	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctcagccaggtgaccttCgggcgctcctccgatggcct	12	16	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:41333840C>T	ENST00000342595.2	+	2	1590	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	NYX_ENST00000378220.1_Silent_p.F378F	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	378	LRRCT.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						AGGTGACCTTCGGGCGCTCCT	0.701																																					p.F378F		.											.	NYX-108	0			c.C1134T						.						15	16	15					X																	41333840		2191	4276	6467	SO:0001819	synonymous_variant	60506	exon2			GACCTTCGGGCGC	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1134C>T	X.37:g.41333840C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	210	113	NM_022567	0	0	0	0	0	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	CCDS14256.1																																																																																			.		0.701	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		T	41333840	C	T	41333840	2	4	27	1	0	0	0	0	0	0	0	1	10836	883	31	1		1	NYX	23	41333840	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	22808607	41333840	113936720	379	4939											
CXorf36	79742	broad.mit.edu	37	chrX	45017131	45017131	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggagcgggctggccagGccctacgcgcaggtgggaga	19	12	0	1	rs374071629		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:45017131G>T	ENST00000398000.2	-	3	575	c.501C>A	c.(499-501)ggC>ggA	p.G167G	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	167						extracellular region (GO:0005576)		p.G167G(1)		endometrium(1)|large_intestine(2)|lung(4)	7						GGCTGGCCAGGCCCTACGCGC	0.677																																					p.G167G		.											.	CXorf36-130	1	Substitution - coding silent(1)	endometrium(1)	c.C501A						.						10	9	9					X																	45017131		1467	3370	4837	SO:0001819	synonymous_variant	79742	exon3			GGCCAGGCCCTAC	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.501C>A	X.37:g.45017131G>T		Somatic	43	2		WXS	Illumina GAIIx	Phase_I	120	9	NM_176819	0	0	0	0	0	A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	CCDS48096.1																																																																																			.		0.677	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		T	45017131	G	T	45017131	2	4	27	1	0	0	0	0	0	0	0	1	4115	1190	42	3		3	CXorf36	23	45017131	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3683291	45017131	110253429	380	4940											
RBM10	8241	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	47039883	47039883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcactgccattgctgCggcccagtgggccatctcac	12	16	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:47039883C>T	ENST00000377604.3	+	12	1968	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.A331V|RBM10_ENST00000345781.6_Missense_Mutation_p.A332V	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	409					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						GCCATTGCTGCGGCCCAGTGG	0.597																																					p.A474V	Melanoma(171;120 2705 19495 39241)	.											.	RBM10-626	0			c.C1421T						.						41	33	36					X																	47039883		2203	4300	6503	SO:0001583	missense	8241	exon12			TTGCTGCGGCCCA	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.1226C>T	X.37:g.47039883C>T	ENSP00000366829:p.Ala409Val	Somatic	323	1		WXS	Illumina GAIIx	Phase_I	368	74	NM_001204468	0	0	15	27	12	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213786	0.79352	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.28895	2.29;1.59;1.94	3.05	3.05	0.35203	.	0.154328	0.41823	D	0.000803	T	0.48822	0.1521	M	0.62723	1.935	0.44247	D	0.997097	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.999;0.991;0.998	T	0.47898	-0.9081	10	0.48119	T	0.1	-9.8024	11.2352	0.48936	0.0:1.0:0.0:0.0	.	332;474;408;331;409	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	V	409;331;332	ENSP00000366829:A409V;ENSP00000328848:A331V;ENSP00000329659:A332V	ENSP00000328848:A331V	A	+	2	0	RBM10	46924827	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.536000	0.82023	1.778000	0.52293	0.597000	0.82753	GCG	.		0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		T	47039883	C	T	47039883	3	4	27	1	0	0	0	0	1	0	0	0	13156	768	27	1	1268	1	RBM10	23	47039883	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	2022752	47039883	108230677	381	4941											
GATA1	2623	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48649679	48649679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccgagcacagccaccGctgcagctgcggcactggcc	12	19	0	0	rs150572851	byFrequency	TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:48649679G>A	ENST00000376670.3	+	2	274	c.163G>A	c.(163-165)Gct>Act	p.A55T	GATA1_ENST00000376665.3_Missense_Mutation_p.A55T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	55					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M1fs(7)|p.D42_D74>(3)|p.A53fs*7(3)|p.T48fs*11(2)|p.T54fs*85(1)|p.T52fs*8(1)|p.S47fs*9(1)|p.T54fs*8(1)|p.S51fs*72(1)|p.T54fs*15(1)|p.P50fs*6(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CACAGCCACCGCTGCAGCTGC	0.607			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								G|||	1	0.000264901	0	0	3775	,	,		12135	0		0	False		,,,				2504	0.001				p.A55T	Pancreas(9;429 505 11287 29617)	.		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	GATA1-1315	22	Deletion - Frameshift(16)|Complex - frameshift(3)|Complex - deletion inframe(3)	haematopoietic_and_lymphoid_tissue(22)	c.G163A						.		THR/ALA	1,3832		0,1,0,1631,569	24	17	19		163	1.4	0	X	dbSNP_134	19	3,6715		0,2,1,2424,1865	yes	missense	GATA1	NM_002049.3	58	0,3,1,4055,2434	AA,AG,A,GG,G		0.0447,0.0261,0.0379	benign	55/414	48649679	4,10547	2201	4292	6493	SO:0001583	missense	2623	exon2			GCCACCGCTGCAG	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.163G>A	X.37:g.48649679G>A	ENSP00000365858:p.Ala55Thr	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	160	82	NM_002049	0	0	5	5	0	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966240	0.34659	2.61E-4	4.47E-4	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97811	-4.55;-4.35	3.3	1.38	0.22167	.	0.368082	0.23652	U	0.045909	D	0.90772	0.7103	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	B	0.38296	0.27	D	0.86258	0.1653	10	0.27082	T	0.32	-1.6267	3.8243	0.08848	0.1536:0.2531:0.5933:0.0	.	55	P15976	GATA1_HUMAN	T	55	ENSP00000365858:A55T;ENSP00000365853:A55T	ENSP00000365853:A55T	A	+	1	0	GATA1	48534623	0.063000	0.20901	0.016000	0.15963	0.199000	0.23934	1.081000	0.30791	0.379000	0.24794	0.165000	0.16767	GCT	G|0.999;A|0.001		0.607	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		A	48649679	G	A	48649679	3	1	27	1	0	0	0	0	1	0	0	0	6278	1087	38	1	165	1	GATA1	23	48649679	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	1609796	48649679	106620881	382	4942											
TSPYL2	64061	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53112257	53112257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggcggcggcggcggCggaggaggaagcagaggaag	24	7	0	1	rs192279149		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:53112257C>T	ENST00000375442.4	+	1	709	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	193	Arg-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						gcggcggcggcggaggaggaa	0.572																																					p.R193W		.											.	TSPYL2-130	0			c.C577T						.						33	23	27					X																	53112257		2202	4297	6499	SO:0001583	missense	64061	exon1			CGGCGGCGGAGGA	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.577C>T	X.37:g.53112257C>T	ENSP00000364591:p.Arg193Trp	Somatic	385	1		WXS	Illumina GAIIx	Phase_I	481	230	NM_022117	0	0	32	32	0	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	c	14.76	2.631668	0.46944	.	.	ENSG00000184205	ENST00000375442	T	0.24538	1.85	3.99	2.75	0.32379	.	0.147317	0.31859	N	0.006945	T	0.34948	0.0915	L	0.44542	1.39	0.24107	N	0.995852	D;D	0.76494	0.999;0.999	P;P	0.62089	0.898;0.898	T	0.12656	-1.0539	10	0.87932	D	0	-17.228	7.81	0.29226	0.5873:0.4127:0.0:0.0	.	193;193	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	W	193	ENSP00000364591:R193W	ENSP00000364591:R193W	R	+	1	2	TSPYL2	53128982	0.982000	0.34865	0.961000	0.40146	0.438000	0.31896	0.289000	0.18957	0.060000	0.16281	-0.444000	0.05651	CGG	C|0.999;A|0.001		0.572	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		T	53112257	C	T	53112257	3	4	27	1	0	0	0	0	1	0	0	0	16708	759	27	1	579	1	TSPYL2	23	53112257	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	4462578	53112257	102158303	383	4943											
TRO	7216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54951477	54951477	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttcccagaaatcattgaAcgagcaagctacactctgga	7	10	2	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:54951477A>G	ENST00000173898.7	+	6	1573	c.1461A>G	c.(1459-1461)gaA>gaG	p.E487E	TRO_ENST00000375041.2_Silent_p.E90E|TRO_ENST00000319167.8_Silent_p.E487E|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.E18E|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000399736.1_Silent_p.E90E|TRO_ENST00000375022.4_Silent_p.E487E	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	487	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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						AAATCATTGAACGAGCAAGCT	0.488																																					p.E487E		.											.	TRO-131	0			c.A1461G						.						59	53	55					X																	54951477		2147	4246	6393	SO:0001819	synonymous_variant	7216	exon6			CATTGAACGAGCA	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.1461A>G	X.37:g.54951477A>G		Somatic	598	2		WXS	Illumina GAIIx	Phase_I	672	302	NM_016157	0	0	0	8	8	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																			.		0.488	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		G	54951477	A	G	54951477	2	3	27	1	0	0	0	0	0	0	0	1	16622	40	2	4		4	TRO	23	54951477	Silent	SNP	A	TCGA-OR-A5K4-01A-11D-A29I-10	1839220	54951477	100319083	384	4944											
FAM155B	27112	broad.mit.edu;bcgsc.ca	37	chrX	68749609	68749609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatgatcccccaggccGtgtcagcaacaagcccgccc	8	19	2	1	rs201655694		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:68749609G>A	ENST00000252338.4	+	3	1271	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	411						integral component of membrane (GO:0016021)		p.R410H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCCAGGCCGTGTCAGCAAC	0.612													G|||	0	0	0	0	3775	,	,		10246	0		0	False		,,,				2504	0				p.R410H		.											.	FAM155B-131	1	Substitution - Missense(1)	endometrium(1)	c.G1229A						.	G	HIS/ARG	2,3833		0,1,1,1631,570	167	113	132		1229	0	0	X		132	0,6728		0,0,0,2428,1872	yes	missense	FAM155B	NM_015686.2	29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	benign	410/473	68749609	2,10561	2203	4300	6503	SO:0001583	missense	27112	exon3			CAGGCCGTGTCAG	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1229G>A	X.37:g.68749609G>A	ENSP00000252338:p.Arg410His	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	209	8	NM_015686	0	0	1	1	0	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.040	-1.290641	0.01387	5.22E-4	0.0	ENSG00000130054	ENST00000252338	T	0.47869	0.83	3.01	0.0232	0.14136	.	1.012260	0.07931	N	0.977539	T	0.22399	0.0540	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.23302	T	0.38	-0.6888	2.7348	0.05237	0.4491:0.0:0.336:0.2149	.	410	O75949-2	.	H	410	ENSP00000252338:R410H	ENSP00000252338:R410H	R	+	2	0	FAM155B	68666334	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.723000	0.04952	-0.114000	0.11936	0.476000	0.43555	CGT	G|0.999;A|0.001		0.612	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		A	68749609	G	A	68749609	3	1	27	1	0	0	0	0	1	0	0	0	5485	1145	40	1	1239	1	FAM155B	23	68749609	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	13798132	68749609	86520951	385	4945											
PDZD11	51248	broad.mit.edu;bcgsc.ca	37	chrX	69508314	69508314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcttcagtgtgatggttCggggcagaaactgggtcaac	14	8	3	2			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:69508314C>T	ENST00000239666.4	-	3	269	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	KIF4A_ENST00000374403.3_5'Flank|PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.R46Q|KIF4A_ENST00000374388.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	46						basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						TGTGATGGTTCGGGGCAGAAA	0.483																																					p.R46Q		.											.	PDZD11-130	0			c.G137A						.						121	97	105					X																	69508314		2203	4300	6503	SO:0001583	missense	51248	exon3			ATGGTTCGGGGCA	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.137G>A	X.37:g.69508314C>T	ENSP00000239666:p.Arg46Gln	Somatic	457	2		WXS	Illumina GAIIx	Phase_I	613	20	NM_016484	0	1	182	196	13	D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423087	0.62733	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.19250	2.16;2.16	5.03	5.03	0.67393	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	N	0.19112	0.55	0.80722	D	1	D;B	0.76494	0.999;0.016	D;B	0.77557	0.99;0.001	T	0.15607	-1.0431	10	0.59425	D	0.04	.	16.4143	0.83729	0.0:1.0:0.0:0.0	.	77;46	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	Q	46	ENSP00000239666:R46Q;ENSP00000363578:R46Q	ENSP00000239666:R46Q	R	-	2	0	PDZD11	69425039	1.000000	0.71417	0.982000	0.44146	0.952000	0.60782	6.804000	0.75186	2.336000	0.79503	0.600000	0.82982	CGA	.		0.483	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		T	69508314	C	T	69508314	3	4	27	1	0	0	0	0	1	0	0	0	11739	884	31	1	305	1	PDZD11	23	69508314	Missense_Mutation	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	758705	69508314	85762246	386	4946											
TCEAL2	140597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101382400	101382400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatgcaaagaaatttacagGaccccttctatcctaggggt	10	9	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:101382400G>T	ENST00000372780.1	+	3	817	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D200Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	200					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						AAATTTACAGGACCCCTTCTA	0.488																																					p.D200Y		.											.	TCEAL2-130	0			c.G598T						.						88	93	91					X																	101382400		2202	4298	6500	SO:0001583	missense	140597	exon3			TTACAGGACCCCT	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.598G>T	X.37:g.101382400G>T	ENSP00000361866:p.Asp200Tyr	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	233	99	NM_080390	0	0	0	0	0	B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496896	0.64186	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.11495	2.77;2.77	3.35	2.49	0.30216	.	0.442567	0.19140	N	0.121712	T	0.25568	0.0622	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02909	-1.1095	10	0.66056	D	0.02	.	5.6324	0.17518	0.1543:0.0:0.8457:0.0	.	200	Q9H3H9	TCAL2_HUMAN	Y	200	ENSP00000361866:D200Y;ENSP00000332359:D200Y	ENSP00000332359:D200Y	D	+	1	0	TCEAL2	101269056	0.797000	0.28877	0.059000	0.19551	0.973000	0.67179	1.367000	0.34204	0.796000	0.33947	0.594000	0.82650	GAC	.		0.488	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		T	101382400	G	T	101382400	3	4	27	1	0	0	0	0	1	0	0	0	15718	1174	41	3	600	3	TCEAL2	23	101382400	Missense_Mutation	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	31874086	101382400	53888160	387	4947											
COL4A5	1287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107812000	107812000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaaagggaatgccaggCcacgatggggccccaggacc	13	12	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:107812000C>T	ENST00000361603.2	+	6	577	c.333C>T	c.(331-333)ggC>ggT	p.G111G	COL4A5_ENST00000328300.6_Silent_p.G111G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	111	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						GAATGCCAGGCCACGATGGGG	0.398									Alport syndrome with Diffuse Leiomyomatosis																												p.G111G		.											.	COL4A5-133	0			c.C333T						.						96	93	94					X																	107812000		2203	4300	6503	SO:0001819	synonymous_variant	1287	exon6	Familial Cancer Database		GCCAGGCCACGAT	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.333C>T	X.37:g.107812000C>T		Somatic	212	0		WXS	Illumina GAIIx	Phase_I	387	194	NM_000495	0	0	0	0	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																			.		0.398	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107812000	C	T	107812000	2	4	27	1	0	0	0	0	0	0	0	1	3701	726	26	3		3	COL4A5	23	107812000	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	6429600	107812000	47458560	388	4948											
SLC6A14	11254	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	115582608	115582608	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattattttctcttataggTatggaaagatgctgccactc	7	7	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:115582608T>C	ENST00000371900.4	+	8	1020	c.932T>C	c.(931-933)gTa>gCa	p.V311A		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	311					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTCTTATAGGTATGGAAAGAT	0.284																																					p.V311A		.											.	SLC6A14-133	0			c.T932C						.						81	70	74					X																	115582608		2203	4300	6503	SO:0001630	splice_region_variant	11254	exon8			TATAGGTATGGAA	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.931-1T>C	X.37:g.115582608T>C		Somatic	57	1		WXS	Illumina GAIIx	Phase_I	87	39	NM_007231	0	0	0	0	0	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704831	0.68615	.	.	ENSG00000087916	ENST00000371900	D	0.82711	-1.64	5.34	5.34	0.76211	.	0.057662	0.64402	D	0.000002	D	0.90055	0.6894	M	0.84433	2.695	0.51767	D	0.999933	D	0.59767	0.986	P	0.60173	0.87	D	0.91409	0.5149	10	0.87932	D	0	.	12.0975	0.53763	0.0:0.0:0.0:1.0	.	311	Q9UN76	S6A14_HUMAN	A	311	ENSP00000360967:V311A	ENSP00000360967:V311A	V	+	2	0	SLC6A14	115496636	1.000000	0.71417	0.968000	0.41197	0.682000	0.39822	7.672000	0.83956	1.760000	0.52011	0.441000	0.28932	GTA	.		0.284	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Missense_Mutation	C	115582608	T	C	115582608	5	2	27	1	0	0	0	0	0	0	1	0	14722	1652	57	4	962	4	SLC6A14	23	115582608	Splice_Site	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	7770608	115582608	39687952	389	4949											
RPL39	6170	broad.mit.edu	37	chrX	118923904	118923904	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttttcatccgaatccacTggggaatgggacgattttgc	11	9	1	0			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:118923904T>A	ENST00000361575.3	-	2	140	c.74A>T	c.(73-75)cAg>cTg	p.Q25L	SNORA69_ENST00000383895.1_RNA|RPL39_ENST00000468844.1_5'UTR	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39	25					antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CCGAATCCACTGGGGAATGGG	0.413																																					p.K25I		.											.	RPL39-130	0			c.A74T						.						106	92	97					X																	118923904		2203	4300	6503	SO:0001583	missense	6170	exon2			ATCCACTGGGGAA		CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"L ribosomal proteins"	10350	protein-coding gene	gene with protein product		300899	"ribosomal protein L39 pseudogene 42"	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.74A>T	X.37:g.118923904T>A	ENSP00000355315:p.Gln25Leu	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	111	5	NM_001000	2	0	2278	2280	0	P02404|P39025|Q9BYF2	Missense_Mutation	SNP	ENST00000361575.3	37	CCDS14586.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342333	0.61073	.	.	ENSG00000198918	ENST00000361575	.	.	.	4.75	4.75	0.60458	Ribosomal protein L39e domain (2);	0.000000	0.56097	D	0.000028	T	0.58366	0.2117	.	.	.	0.80722	D	1	B	0.18013	0.025	B	0.29862	0.108	T	0.59537	-0.7436	8	0.72032	D	0.01	.	12.3075	0.54910	0.0:0.0:0.0:1.0	.	25	P62891	RL39_HUMAN	L	25	.	ENSP00000355315:Q25L	Q	-	2	0	RPL39	118807932	1.000000	0.71417	0.957000	0.39632	0.899000	0.52679	7.223000	0.78033	1.577000	0.49804	0.242000	0.17961	CAG	.		0.413	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058047.1	NM_001000		A	118923904	T	A	118923904	3	1	27	1	0	0	0	0	1	0	0	0	13637	1580	55	5	89	5	RPL39	23	118923904	Missense_Mutation	SNP	T	TCGA-OR-A5K4-01A-11D-A29I-10	3341296	118923904	36346656	390	4950											
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129190051	129190051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggagctggtgcggtaCgagccagacctacttcggct	14	11	0	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:129190051C>T	ENST00000218147.7	+	13	5273	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000540052.1_Silent_p.Y1692Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607																																					p.Y1692Y		.											.	BCORL1-294	0			c.C5076T						.						39	38	38					X																	129190051		2203	4300	6503	SO:0001819	synonymous_variant	63035	exon12			GCGGTACGAGCCA	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5076C>T	X.37:g.129190051C>T		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	199	82	NM_021946	0	0	1	3	2	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	CCDS14616.1																																																																																			.		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129190051	C	T	129190051	2	4	27	1	0	0	0	0	0	0	0	1	1388	547	19	1		1	BCORL1	23	129190051	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	10266147	129190051	26080509	391	4951											
MAMLD1	10046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	149639048	149639048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgctgccctggggccCgccatgccctatgctcctga	11	16	0	1	rs375892884		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:149639048C>T	ENST00000370401.2	+	4	1513	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	MAMLD1_ENST00000432680.2_Silent_p.P376P|MAMLD1_ENST00000426613.2_Silent_p.P376P|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.P401P			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	401					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGGGCCCGCCATGCCCT	0.592													C|||	1	0.000264901	8e-04	0	3775	,	,		14177	0		0	False		,,,				2504	0				p.P401P		.											.	MAMLD1-130	0			c.C1203T						.	C	,,	0,3835		0,0,1632,571	103	98	100		1128,1128,1203	-0.9	0	X		100	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	,,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,,	376/999,376/750,401/775	149639048	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10046	exon3			GGGGCCCGCCATG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1203C>T	X.37:g.149639048C>T		Somatic	131	1		WXS	Illumina GAIIx	Phase_I	191	83	NM_005491	0	0	23	23	0	B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																			.		0.592	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149639048	C	T	149639048	2	4	27	1	0	0	0	0	0	0	0	1	9246	639	23	1		1	MAMLD1	23	149639048	Silent	SNP	C	TCGA-OR-A5K4-01A-11D-A29I-10	20448997	149639048	5631512	392	4952											
HAUS7	55559	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	152735950	152735950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccgccctggacacgctGctgtcgccctcgtcctctga	10	18	1	1			TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:152735950G>A	ENST00000370211.4	-	1	139	c.96C>T	c.(94-96)agC>agT	p.S32S	TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370210.1_Silent_p.S22S|HAUS7_ENST00000370212.3_Silent_p.S32S|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	32					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)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGGACACGCTGCTGTCGCCCT	0.726																																					p.S32S		.											.	HAUS7-90	0			c.C96T						.						29	22	25					X																	152735950		2194	4294	6488	SO:0001819	synonymous_variant	55559	exon1			CACGCTGCTGTCG	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.96C>T	X.37:g.152735950G>A		Somatic	177	1		WXS	Illumina GAIIx	Phase_I	338	151	NM_017518	0	0	24	24	0	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Silent	SNP	ENST00000370211.4	37	CCDS35438.1																																																																																			.		0.726	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		A	152735950	G	A	152735950	2	1	27	1	0	0	0	0	0	0	0	1	6998	1310	46	3		3	HAUS7	23	152735950	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	3096902	152735950	2534610	393	4953											
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153588004	153588004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcataggtcacgtccacGgagtgcagtcctggaggagt	14	11	2	0	rs373659455		TCGA-OR-A5K4-01A-11D-A29I-10	TCGA-OR-A5K4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	451372e2-860f-4f7e-bf09-d42201a0717f	624bb1d5-633e-47a5-87f5-a3e4799fc621	g.chrX:153588004G>A	ENST00000369850.3	-	24	4226	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S	FLNA_ENST00000344736.4_Silent_p.S1330S|FLNA_ENST00000360319.4_Silent_p.S1330S|FLNA_ENST00000422373.1_Silent_p.S1330S|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1330					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)					TCACGTCCACGGAGTGCAGTC	0.721													.|||	1	0.000264901	8e-04	0	3775	,	,		10228	0		0	False		,,,				2504	0				p.S1330S		.											.	FLNA-599	0			c.C3990T						.	G	,	0,3535		0,0,1484,567	39	42	41		3990,3990	-2.6	1	X		41	1,6520		0,1,2361,1797	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,3845,2364	AA,AG,GG,G		0.0153,0.0,0.0099	,	1330/2648,1330/2640	153588004	1,10055	2051	4159	6210	SO:0001819	synonymous_variant	2316	exon24			GTCCACGGAGTGC	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.3990C>T	X.37:g.153588004G>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	133	71	NM_001456	0	0	0	0	0	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																			.		0.721	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153588004	G	A	153588004	2	1	27	1	0	0	0	0	0	0	0	1	5955	1103	39	1		1	FLNA	23	153588004	Silent	SNP	G	TCGA-OR-A5K4-01A-11D-A29I-10	852054	153588004	1682556	394	4954											
SLC2A5	6518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	9118302	9118302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagggcaagcacaagcGtcagcctctgcagagatcac	11	13	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:9118302G>A	ENST00000377424.4	-	2	220	c.41C>T	c.(40-42)aCg>aTg	p.T14M	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.T14M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	14					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCACAAGCGTCAGCCTCTG	0.552																																					p.T14M		.											.	SLC2A5-517	0			c.C41T						.						75	62	66					1																	9118302		2203	4300	6503	SO:0001583	missense	6518	exon2			ACAAGCGTCAGCC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.41C>T	1.37:g.9118302G>A	ENSP00000366641:p.Thr14Met	Somatic	321	1		WXS	Illumina GAIIx	Phase_I	242	92	NM_003039	0	0	0	0	0	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194867	0.78902	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000377414	T;D	0.90444	-1.36;-2.67	5.29	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);	0.106431	0.64402	D	0.000006	D	0.96197	0.8760	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.66602	0.912;0.891;0.945	D	0.96883	0.9647	10	0.87932	D	0	.	13.0946	0.59184	0.0804:0.0:0.9196:0.0	.	14;14;14	B4DIU4;P22732-2;P22732	.;.;GTR5_HUMAN	M	14	ENSP00000366641:T14M;ENSP00000366631:T14M	ENSP00000366631:T14M	T	-	2	0	SLC2A5	9040889	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	7.104000	0.77024	2.461000	0.83175	0.491000	0.48974	ACG	.		0.552	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		A	9118302	G	A	9118302	3	1	28	1	0	0	0	0	1	0	0	0	14593	1145	40	1	1672	1	SLC2A5	1	9118302	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		9118302	240132319	1	4955											
PTCHD2	57540	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11574461	11574461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcaaagtccaggttcTctatggggggacagacctgt	12	12	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:11574461T>C	ENST00000294484.6	+	4	1469	c.1331T>C	c.(1330-1332)cTc>cCc	p.L444P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L444P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	444					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)		GTCCAGGTTCTCTATGGGGGG	0.512																																					p.L444P		.											.	PTCHD2-209	0			c.T1331C						.						133	131	132					1																	11574461		1979	4161	6140	SO:0001583	missense	57540	exon4			AGGTTCTCTATGG	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.1331T>C	1.37:g.11574461T>C	ENSP00000294484:p.Leu444Pro	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	50	21	NM_020780	0	0	0	0	0	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915588	0.73098	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85955	-2.05;-2.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90150	0.4220	10	0.54805	T	0.06	-31.6561	14.2637	0.66102	0.0:0.0:0.0:1.0	.	444	Q9P2K9	PTHD2_HUMAN	P	444	ENSP00000294484:L444P;ENSP00000374226:L444P	ENSP00000294484:L444P	L	+	2	0	PTCHD2	11497048	1.000000	0.71417	0.865000	0.33974	0.836000	0.47400	7.663000	0.83820	2.017000	0.59298	0.533000	0.62120	CTC	.		0.512	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		C	11574461	T	C	11574461	3	2	28	1	0	0	0	0	1	0	0	0	12775	1551	54	4	1341	4	PTCHD2	1	11574461	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	2456159	11574461	237676160	2	4956											
FAM131C	348487	ucsc.edu	37	chr1	16385007	16385007	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggagcccggggggtgggtCccaccctcgggtccttgggc	19	13	0	0	rs2019769	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	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-514	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		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	31	9	NM_182623	0	0	35	35	0	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	28	1	0	0	0	0	0	0	0	1	5460	842	30	3		3	FAM131C	1	16385007	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	4810546	16385007	232865614	3	4957											
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	19455563	19455563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagcattagacggaccatgTgcagcctaaaagggtgggga	14	8	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:19455563T>A	ENST00000375254.3	-	61	8939	c.8912A>T	c.(8911-8913)cAc>cTc	p.H2971L	UBR4_ENST00000375217.2_Missense_Mutation_p.H2964L|UBR4_ENST00000375267.2_Missense_Mutation_p.H2971L|UBR4_ENST00000375226.2_Missense_Mutation_p.H2947L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2971					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACGGACCATGTGCAGCCTAAA	0.512																																					p.H2971L		.											.	UBR4-612	0			c.A8912T						.						98	83	88					1																	19455563		2203	4300	6503	SO:0001583	missense	23352	exon61			ACCATGTGCAGCC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8912A>T	1.37:g.19455563T>A	ENSP00000364403:p.His2971Leu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	88	30	NM_020765	0	0	0	0	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827847	0.90955	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.28454	1.63;1.63;1.62;1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.62723	1.935	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	T	0.53194	-0.8473	10	0.87932	D	0	.	15.5631	0.76266	0.0:0.0:0.0:1.0	.	2971	Q5T4S7	UBR4_HUMAN	L	2971;2971;2964;2947;579;1657	ENSP00000364403:H2971L;ENSP00000364416:H2971L;ENSP00000364365:H2964L;ENSP00000364374:H2947L	ENSP00000364365:H2964L	H	-	2	0	UBR4	19328150	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.388000	0.79795	2.153000	0.67306	0.460000	0.39030	CAC	.		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19455563	T	A	19455563	3	1	28	1	0	0	0	0	1	0	0	0	16953	1696	59	5	6823	5	UBR4	1	19455563	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	3070556	19455563	229795058	4	4958											
RNF19B	127544	bcgsc.ca	37	chr1	33407925	33407925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagggctgcaaagctgGccgtttcgctgtaaggacct	14	10	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:33407925G>A	ENST00000373456.7	-	7	1540	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	RNF19B_ENST00000356990.5_Missense_Mutation_p.A513V|RNF19B_ENST00000235150.4_Missense_Mutation_p.A513V	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	514					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)				TGCAAAGCTGGCCGTTTCGCT	0.488																																					p.A514V		.											.	RNF19B-68	0			c.C1541T						.						120	112	115					1																	33407925		2203	4300	6503	SO:0001583	missense	127544	exon7			AAGCTGGCCGTTT	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.1541C>T	1.37:g.33407925G>A	ENSP00000362555:p.Ala514Val	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_153341	0	0	3	3	0	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160471	0.57368	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.37915	1.17;1.21;1.17	5.11	5.11	0.69529	.	0.111433	0.64402	D	0.000008	T	0.34483	0.0899	L	0.29908	0.895	0.46061	D	0.998846	P;P;B	0.43094	0.754;0.799;0.101	B;B;B	0.42692	0.395;0.395;0.032	T	0.14924	-1.0455	10	0.52906	T	0.07	.	18.9322	0.92571	0.0:0.0:1.0:0.0	.	513;514;513	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	V	514;513;513;412	ENSP00000362555:A514V;ENSP00000349482:A513V;ENSP00000235150:A513V	ENSP00000235150:A513V	A	-	2	0	RNF19B	33180512	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.855000	0.86950	2.538000	0.85594	0.655000	0.94253	GCC	.		0.488	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		A	33407925	G	A	33407925	3	1	28	1	0	0	0	0	1	0	0	0	13516	1203	42	3	695	3	RNF19B	1	33407925	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	13952362	33407925	215842696	5	4959											
PRDX1	5052	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	45980288	45980290	+	In_Frame_Del	DEL	ATC	ATC	-													atctgccgaagaatacccttAtcatcaatgataaaaaggcc							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	ATC	ATC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:45980288_45980290delATC	ENST00000262746.1	-	5	742_744	c.403_405delGAT	c.(403-405)gatdel	p.D135del	PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000372079.1_In_Frame_Del_p.D33del|PRDX1_ENST00000319248.8_In_Frame_Del_p.D135del	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	135	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)					GAATACCCTTATCATCAATGATA	0.443																																					p.135_135del		.											.	PRDX1-514	0			c.403_405del						.																																			SO:0001651	inframe_deletion	5052	exon5			ACCCTTATCATCA	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.403_405delGAT	1.37:g.45980291_45980293delATC	ENSP00000262746:p.Asp135del	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	107	35	NM_181696	0	0	0	0	0	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	In_Frame_Del	DEL	ENST00000262746.1	37	CCDS522.1																																																																																			.		0.443	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		-	45980290	ATC	-	45980288	7	5	28	1	0	1	0	1	0	0	0	0	12506	446	16	0	202	0	PRDX1	1	45980288	In_Frame_Del	DEL	ATC	TCGA-OR-A5K5-01A-11D-A29I-10	12572363	45980288	203270333	6	4960											
PDE4B	5142	ucsc.edu;bcgsc.ca	37	chr1	66384376	66384376	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagagggagaaggtgttgcTcaggaaacttacagttacca	14	6	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:66384376T>A	ENST00000329654.4	+	3	326	c.139T>A	c.(139-141)Tca>Aca	p.S47T	PDE4B_ENST00000371049.3_Missense_Mutation_p.S47T	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	47					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)			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)	AAGGTGTTGCTCAGGAAACTT	0.463																																					p.S47T		.											.	PDE4B-92	0			c.T139A						.						95	90	92					1																	66384376		2203	4300	6503	SO:0001583	missense	5142	exon3			TGTTGCTCAGGAA	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.139T>A	1.37:g.66384376T>A	ENSP00000332116:p.Ser47Thr	Somatic	269	3		WXS	Illumina GAIIx	Phase_I	225	99	NM_002600	0	0	0	0	0	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344964	0.61073	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.19105	2.17;2.17;2.17	5.6	5.6	0.85130	.	0.511841	0.21451	N	0.074340	T	0.23133	0.0559	L	0.50333	1.59	0.40382	D	0.97945	P	0.49447	0.924	P	0.57776	0.827	T	0.01879	-1.1255	10	0.22706	T	0.39	.	14.5901	0.68359	0.0:0.0:0.0:1.0	.	47	Q07343	PDE4B_HUMAN	T	47	ENSP00000332116:S47T;ENSP00000342637:S47T;ENSP00000360088:S47T	ENSP00000332116:S47T	S	+	1	0	PDE4B	66156964	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.015000	0.76387	2.122000	0.65172	0.528000	0.53228	TCA	.		0.463	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		A	66384376	T	A	66384376	3	1	28	1	0	0	0	0	1	0	0	0	11679	1551	54	5	145	5	PDE4B	1	66384376	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	20404088	66384376	182866245	7	4961											
IFI44L	10964	ucsc.edu	37	chr1	79095482	79095482	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaattcgtattctttTggtgggtccagttgggtctg	12	6	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:79095482T>A	ENST00000370751.5	+	4	784	c.605T>A	c.(604-606)tTg>tAg	p.L202*	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	202					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CGTATTCTTTTGGTGGGTCCA	0.423																																					p.L202X		.											.	IFI44L-90	0			c.T605A						.						122	121	121					1																	79095482		2203	4300	6503	SO:0001587	stop_gained	10964	exon4			TTCTTTTGGTGGG	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.605T>A	1.37:g.79095482T>A	ENSP00000359787:p.Leu202*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_006820	0	0	0	0	0	Q86TE1|Q96B64|Q99984	Nonsense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724227	0.68959	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	.	.	.	2.95	2.95	0.34219	.	0.225081	0.29383	N	0.012315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9064	9.3468	0.38113	0.0:0.0:0.0:1.0	.	.	.	.	X	202;179	.	ENSP00000359787:L202X	L	+	2	0	IFI44L	78868070	0.343000	0.24818	0.943000	0.38184	0.609000	0.37215	5.199000	0.65152	1.590000	0.49995	0.416000	0.27883	TTG	.		0.423	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		A	79095482	T	A	79095482	4	1	28	1	0	0	0	0	0	1	0	0	7545	1821	63	5	615	5	IFI44L	1	79095482	Nonsense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	12711106	79095482	170155139	8	4962											
GBP4	115361	ucsc.edu	37	chr1	89658754	89658754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggggcaggattttgccCtgattagctctgctagctca	12	10	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:89658754C>A	ENST00000355754.6	-	5	600	c.503G>T	c.(502-504)aGg>aTg	p.R168M		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	168	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GGATTTTGCCCTGATTAGCTC	0.463																																					p.R168M		.											.	GBP4-90	0			c.G503T						.						119	112	114					1																	89658754		2203	4300	6503	SO:0001583	missense	115361	exon5			TTTGCCCTGATTA	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.503G>T	1.37:g.89658754C>A	ENSP00000359490:p.Arg168Met	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_052941	0	0	0	0	0	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167272	0.21621	.	.	ENSG00000162654	ENST00000355754	T	0.78246	-1.16	4.92	-0.151	0.13411	Guanylate-binding protein, N-terminal (1);	0.431546	0.25166	N	0.032634	T	0.79305	0.4423	M	0.89658	3.05	0.26940	N	0.966266	D	0.65815	0.995	P	0.60949	0.881	T	0.71090	-0.4693	10	0.40728	T	0.16	.	7.8392	0.29389	0.0:0.4524:0.0:0.5476	.	168	Q96PP9	GBP4_HUMAN	M	168	ENSP00000359490:R168M	ENSP00000359490:R168M	R	-	2	0	GBP4	89431342	0.098000	0.21812	0.097000	0.21041	0.360000	0.29518	0.276000	0.18716	0.087000	0.17167	-0.145000	0.13849	AGG	.		0.463	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		A	89658754	C	A	89658754	3	1	28	1	0	0	0	0	1	0	0	0	6301	681	24	3	1447	3	GBP4	1	89658754	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	10563272	89658754	159591867	9	4963											
NTNG1	22854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	107691233	107691233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagatgtatttgtcaagattCctgtcgattcatgccctttg	9	8	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:107691233C>A	ENST00000370068.1	+	2	864	c.18C>A	c.(16-18)ttC>ttA	p.F6L	NTNG1_ENST00000370067.1_Missense_Mutation_p.F6L|NTNG1_ENST00000370073.2_Missense_Mutation_p.F6L|NTNG1_ENST00000370070.2_Missense_Mutation_p.F6L|NTNG1_ENST00000370072.3_Missense_Mutation_p.F6L|NTNG1_ENST00000542803.1_Missense_Mutation_p.F6L|NTNG1_ENST00000370061.3_Missense_Mutation_p.F6L|NTNG1_ENST00000370066.1_Missense_Mutation_p.F6L|NTNG1_ENST00000370065.1_Missense_Mutation_p.F6L|NTNG1_ENST00000370074.4_Missense_Mutation_p.F6L|NTNG1_ENST00000370071.2_Missense_Mutation_p.F6L			Q9Y2I2	NTNG1_HUMAN	netrin G1	6				F -> S (in Ref. 2; AAQ88731). {ECO:0000305}.	axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGTCAAGATTCCTGTCGATTC	0.393																																					p.F6L		.											.	NTNG1-140	0			c.C18A						.						174	159	164					1																	107691233		2203	4300	6503	SO:0001583	missense	22854	exon2			AAGATTCCTGTCG	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.18C>A	1.37:g.107691233C>A	ENSP00000359085:p.Phe6Leu	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	119	55	NM_001113228	0	0	0	0	0	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475229	0.26511	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.71579	0.95;-0.23;0.91;0.3;0.26;-0.39;-0.58;0.95;-0.38;-0.23;0.34	4.97	4.05	0.47172	.	0.000000	0.51477	D	0.000086	T	0.20820	0.0501	N	0.08118	0	0.34267	D	0.680638	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	T	0.10428	-1.0630	10	0.05436	T	0.98	.	7.5723	0.27915	0.0:0.7134:0.1355:0.151	.	6;6;6;6;6	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	L	6	ENSP00000359090:F6L;ENSP00000359088:F6L;ENSP00000440561:F6L;ENSP00000359078:F6L;ENSP00000359089:F6L;ENSP00000359087:F6L;ENSP00000359091:F6L;ENSP00000359085:F6L;ENSP00000359084:F6L;ENSP00000359083:F6L;ENSP00000359082:F6L	ENSP00000294649:F6L	F	+	3	2	NTNG1	107492756	0.977000	0.34250	1.000000	0.80357	0.989000	0.77384	0.703000	0.25646	1.215000	0.43411	0.491000	0.48974	TTC	.		0.393	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		A	107691233	C	A	107691233	3	1	28	1	0	0	0	0	1	0	0	0	10743	854	30	3	20	3	NTNG1	1	107691233	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	18032479	107691233	141559388	10	4964											
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150532560	150532560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgcaaggacagctctcCacattgccccctggtggtac	9	14	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:150532560C>T	ENST00000369038.2	+	17	3314	c.3113C>T	c.(3112-3114)cCa>cTa	p.P1038L	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P1061L|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P1038L			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1038	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GACAGCTCTCCACATTGCCCC	0.617											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1038L		.											.	ADAMTSL4-92	0			c.C3113T						.						162	148	153					1																	150532560		2203	4300	6503	SO:0001583	missense	54507	exon19			GCTCTCCACATTG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.3113C>T	1.37:g.150532560C>T	ENSP00000358034:p.Pro1038Leu	Somatic	137	0	1733	WXS	Illumina GAIIx	Phase_I	262	47	NM_019032	0	0	2	2	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292819	0.40594	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.42513	0.97;0.97;0.97	5.26	5.26	0.73747	PLAC (2);	.	.	.	.	T	0.36026	0.0952	L	0.38175	1.15	0.49051	D	0.999744	D;P;D	0.89917	1.0;0.876;0.999	D;P;D	0.72625	0.978;0.62;0.966	T	0.13764	-1.0497	9	0.11485	T	0.65	.	11.4557	0.50181	0.1799:0.8201:0.0:0.0	.	999;1061;1038	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	L	1038;1061;1038	ENSP00000271643:P1038L;ENSP00000358035:P1061L;ENSP00000358034:P1038L	ENSP00000271643:P1038L	P	+	2	0	ADAMTSL4	148799184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.556000	0.45862	2.456000	0.83038	0.561000	0.74099	CCA	.		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		T	150532560	C	T	150532560	3	4	28	1	0	0	0	0	1	0	0	0	277	594	21	3	3254	3	ADAMTSL4	1	150532560	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	42841327	150532560	98718061	11	4965											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158632609	158632609	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcttctttcgggtggCcagtggctctttcagagctt	12	10	4	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:158632609C>G	ENST00000368147.4	-	17	2527	c.2347G>C	c.(2347-2349)Gcc>Ccc	p.A783P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	783					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)					TTTCGGGTGGCCAGTGGCTCT	0.488																																					p.A783P		.											.	SPTA1-142	0			c.G2347C						.						96	97	97					1																	158632609		1919	4136	6055	SO:0001583	missense	6708	exon17			GGGTGGCCAGTGG	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.2347G>C	1.37:g.158632609C>G	ENSP00000357129:p.Ala783Pro	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	209	44	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364215	0.61513	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54071	0.59;0.59	4.41	4.41	0.53225	.	0.598725	0.12700	N	0.446403	T	0.53722	0.1814	M	0.70595	2.14	0.47407	D	0.99941	P	0.44659	0.84	P	0.51550	0.673	T	0.52388	-0.8582	10	0.36615	T	0.2	.	13.8662	0.63590	0.0:1.0:0.0:0.0	.	783	P02549	SPTA1_HUMAN	P	783	ENSP00000357130:A783P;ENSP00000357129:A783P	ENSP00000357129:A783P	A	-	1	0	SPTA1	156899233	0.978000	0.34361	0.954000	0.39281	0.522000	0.34438	1.586000	0.36611	2.270000	0.75569	0.655000	0.94253	GCC	.		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158632609	C	G	158632609	3	3	28	1	0	0	0	0	1	0	0	0	15163	739	26	3	5056	3	SPTA1	1	158632609	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	8100049	158632609	90618012	12	4966											
DUSP12	11266	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	161722196	161722196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaactctttgctgttgacCcaactaccgtttcacaagga	7	11	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:161722196C>T	ENST00000367943.4	+	4	648	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	206					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)			TGCTGTTGACCCAACTACCGT	0.313																																					p.P206S		.											.	DUSP12-226	0			c.C616T						.						111	125	120					1																	161722196		2203	4299	6502	SO:0001583	missense	11266	exon4			GTTGACCCAACTA	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.616C>T	1.37:g.161722196C>T	ENSP00000356920:p.Pro206Ser	Somatic	261	2		WXS	Illumina GAIIx	Phase_I	319	135	NM_007240	0	0	13	20	7	Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831995	0.71258	.	.	ENSG00000081721	ENST00000367943	T	0.03951	3.75	4.86	4.86	0.63082	.	0.000000	0.46442	D	0.000285	T	0.16514	0.0397	M	0.87180	2.865	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.02676	-1.1125	9	0.33940	T	0.23	.	15.5468	0.76108	0.0:1.0:0.0:0.0	.	206	Q9UNI6	DUS12_HUMAN	S	206	ENSP00000356920:P206S	ENSP00000356920:P206S	P	+	1	0	DUSP12	159988820	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.898000	0.69838	2.528000	0.85240	0.591000	0.81541	CCA	.		0.313	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		T	161722196	C	T	161722196	3	4	28	1	0	0	0	0	1	0	0	0	4826	623	22	3	630	3	DUSP12	1	161722196	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	3089587	161722196	87528425	13	4967											
PTPN7	5778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	202122941	202122941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccataggtttcctcttctGtgggccagtagtggacacat	11	10	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:202122941G>T	ENST00000308986.5	-	7	759	c.629C>A	c.(628-630)aCa>aAa	p.T210K	PTPN7_ENST00000543735.1_Missense_Mutation_p.T39K|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.T249K|PTPN7_ENST00000309017.3_Missense_Mutation_p.T315K			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	210	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TTCCTCTTCTGTGGGCCAGTA	0.582																																					p.T315K		.											.	PTPN7-227	0			c.C944A						.						124	114	118					1																	202122941		2203	4300	6503	SO:0001583	missense	5778	exon7			TCTTCTGTGGGCC	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.629C>A	1.37:g.202122941G>T	ENSP00000311133:p.Thr210Lys	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	144	22	NM_002832	0	0	0	0	0	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.153450|2.153450	0.38021|0.38021	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000477625|ENST00000367279;ENST00000309017;ENST00000308986;ENST00000543735;ENST00000477554	.|D;D;D;D;D	.|0.82711	.|-1.64;-1.64;-1.64;-1.64;-1.64	4.91|4.91	4.0|4.0	0.46444|0.46444	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.329046	.|0.26352	.|N	.|0.024877	T|T	0.65069|0.65069	0.2656|0.2656	N|N	0.10809|0.10809	0.05|0.05	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.24186	.|0.099;0.002;0.045;0.002;0.008	.|B;B;B;B;B	.|0.27380	.|0.079;0.006;0.041;0.01;0.011	T|T	0.56511|0.56511	-0.7967|-0.7967	5|10	.|0.22109	.|T	.|0.4	.|.	6.9755|6.9755	0.24672|0.24672	0.089:0.0:0.6198:0.2912|0.089:0.0:0.6198:0.2912	.|.	.|284;158;162;210;249	.|B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.|.;.;.;PTN7_HUMAN;.	Q|K	141|249;315;210;39;291	.|ENSP00000356248:T249K;ENSP00000309116:T315K;ENSP00000311133:T210K;ENSP00000444624:T39K;ENSP00000418416:T291K	.|ENSP00000311133:T210K	H|T	-|-	3|2	2|0	PTPN7|PTPN7	200389564|200389564	0.999000|0.999000	0.42202|0.42202	0.987000|0.987000	0.45799|0.45799	0.983000|0.983000	0.72400|0.72400	3.917000|3.917000	0.56424|0.56424	1.180000|1.180000	0.42898|0.42898	0.563000|0.563000	0.77884|0.77884	CAC|ACA	.		0.582	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		T	202122941	G	T	202122941	3	4	28	1	0	0	0	0	1	0	0	0	12838	1377	48	3	469	3	PTPN7	1	202122941	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	40400745	202122941	47127680	14	4968											
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	210857405	210857405	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtccgggggcaagaTcaggggggcctcattctttc	17	9	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:210857405T>G	ENST00000271751.4	-	11	2215	c.2188A>C	c.(2188-2190)Atc>Ctc	p.I730L	KCNH1_ENST00000367007.4_Missense_Mutation_p.I703L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	730	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGGCAAGATCAGGGGGGCC	0.572																																					p.I730L		.											.	KCNH1-94	0			c.A2188C						.						59	58	59					1																	210857405		2203	4300	6503	SO:0001583	missense	3756	exon11			GCAAGATCAGGGG	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2188A>C	1.37:g.210857405T>G	ENSP00000271751:p.Ile730Leu	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	45	10	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227949	0.39399	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	T;T	0.16597	2.33;2.33	4.49	4.49	0.54785	.	0.101242	0.64402	D	0.000003	T	0.15696	0.0378	L	0.51422	1.61	0.34129	D	0.665068	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.007	T	0.11108	-1.0601	10	0.32370	T	0.25	.	9.2766	0.37703	0.0:0.0859:0.0:0.9141	.	703;730	Q14CL3;O95259	.;KCNH1_HUMAN	L	730;703	ENSP00000271751:I730L;ENSP00000355974:I703L	ENSP00000271751:I730L	I	-	1	0	KCNH1	208924028	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.005000	0.57075	1.667000	0.50832	0.379000	0.24179	ATC	.		0.572	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		G	210857405	T	G	210857405	3	3	28	1	0	0	0	0	1	0	0	0	8058	1435	50	5	785	5	KCNH1	1	210857405	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	8734464	210857405	38393216	15	4969											
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	215821063	215821063	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcaagccacgtggaattgGagttcatagctaaaatgaga	13	6	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:215821063G>T	ENST00000307340.3	-	67	14978	c.14592C>A	c.(14590-14592)ctC>ctA	p.L4864L	USH2A_ENST00000366943.2_Silent_p.L4864L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4864	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTGGAATTGGAGTTCATAGC	0.473										HNSCC(13;0.011)																											p.L4864L		.											.	USH2A-115	0			c.C14592A						.						50	50	50					1																	215821063		2203	4300	6503	SO:0001819	synonymous_variant	7399	exon67			GAATTGGAGTTCA	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.14592C>A	1.37:g.215821063G>T		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	50	10	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			.		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215821063	G	T	215821063	2	4	28	1	0	0	0	0	0	0	0	1	17085	1161	41	3		3	USH2A	1	215821063	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4963658	215821063	33429558	16	4970											
TRIM11	81559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	228582932	228582932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcagggttggcggtgTccgggtccaaggtcacgtcc	15	12	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr1:228582932T>C	ENST00000284551.6	-	6	1159	c.881A>G	c.(880-882)gAc>gGc	p.D294G	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.D169G	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GTTGGCGGTGTCCGGGTCCAA	0.672																																					p.D294G		.											.	TRIM11-658	0			c.A881G						.						16	18	17					1																	228582932		2193	4293	6486	SO:0001583	missense	81559	exon6			GCGGTGTCCGGGT	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.881A>G	1.37:g.228582932T>C	ENSP00000284551:p.Asp294Gly	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	43	9	NM_145214	0	0	20	30	10	A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614215	0.46631	.	.	ENSG00000154370	ENST00000284551	T	0.04970	3.52	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.239709	0.29321	N	0.012493	T	0.18425	0.0442	M	0.81682	2.555	0.80722	D	1	B;B	0.29212	0.221;0.237	B;P	0.46362	0.315;0.514	T	0.01578	-1.1320	10	0.48119	T	0.1	.	8.8825	0.35382	0.1667:0.0:0.0:0.8333	.	293;294	Q96F44-3;Q96F44	.;TRI11_HUMAN	G	294	ENSP00000284551:D294G	ENSP00000284551:D294G	D	-	2	0	TRIM11	226649555	0.980000	0.34600	0.642000	0.29436	0.076000	0.17211	3.813000	0.55636	2.130000	0.65690	0.533000	0.62120	GAC	.		0.672	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		C	228582932	T	C	228582932	3	2	28	1	0	0	0	0	1	0	0	0	16535	1667	58	4	529	4	TRIM11	1	228582932	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	12761869	228582932	20667689	17	4971											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000458098.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	28	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10		7005369	236194004	18	4972											
RAD51AP2	729475	broad.mit.edu;bcgsc.ca	37	chr2	17699028	17699028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttctcttttatttgatgGcacaacactgttagctttac	5	8	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:17699028G>T	ENST00000399080.2	-	1	678	c.655C>A	c.(655-657)Cca>Aca	p.P219T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	219										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)					TTATTTGATGGCACAACACTG	0.308																																					p.P219T		.											.	RAD51AP2-23	0			c.C655A						.						75	72	73					2																	17699028		1839	4095	5934	SO:0001583	missense	729475	exon1			TTGATGGCACAAC	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.655C>A	2.37:g.17699028G>T	ENSP00000382030:p.Pro219Thr	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_001099218	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	4.327	0.060042	0.08339	.	.	ENSG00000214842	ENST00000399080	T	0.34072	1.38	3.91	0.818	0.18778	.	.	.	.	.	T	0.15696	0.0378	N	0.17082	0.46	0.09310	N	1	B	0.28998	0.23	B	0.25140	0.058	T	0.26292	-1.0107	9	0.07990	T	0.79	0.2921	3.832	0.08877	0.2189:0.0:0.3094:0.4717	.	219	Q09MP3	R51A2_HUMAN	T	219	ENSP00000382030:P219T	ENSP00000382030:P219T	P	-	1	0	RAD51AP2	17562509	0.000000	0.05858	0.006000	0.13384	0.997000	0.91878	0.259000	0.18405	0.152000	0.19188	0.655000	0.94253	CCA	.		0.308	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		T	17699028	G	T	17699028	3	4	28	1	0	0	0	0	1	0	0	0	13032	1203	42	3	2836	3	RAD51AP2	2	17699028	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	10693659	17699028	225500345	19	4973											
ITSN2	50618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24522788	24522788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataacctctcgtcttTctatgtcttttctcctttct	2	11	6	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:24522788T>C	ENST00000355123.4	-	12	1777	c.1334A>G	c.(1333-1335)gAa>gGa	p.E445G	ITSN2_ENST00000361999.3_Missense_Mutation_p.E445G|ITSN2_ENST00000406921.3_Missense_Mutation_p.E445G	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	445					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCGTCTTTCTATGTCTTT	0.294																																					p.E445G		.											.	ITSN2-539	0			c.A1334G						.						123	113	117					2																	24522788		2203	4300	6503	SO:0001583	missense	50618	exon12			CGTCTTTCTATGT	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1334A>G	2.37:g.24522788T>C	ENSP00000347244:p.Glu445Gly	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	75	19	NM_147152	0	0	0	0	0	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657799	0.67586	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.82081	-0.11;-0.09;-0.11;0.35;-1.57	5.76	5.76	0.90799	.	0.000000	0.38164	U	0.001800	D	0.90779	0.7105	M	0.75615	2.305	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.994	D	0.91746	0.5408	10	0.87932	D	0	.	16.0501	0.80755	0.0:0.0:0.0:1.0	.	445;445;445;445	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	G	445;445;445;469;445;470	ENSP00000354561:E445G;ENSP00000347244:E445G;ENSP00000370250:E445G;ENSP00000384499:E445G;ENSP00000391224:E470G	ENSP00000347244:E445G	E	-	2	0	ITSN2	24376292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.333000	0.79357	0.482000	0.46254	GAA	.		0.294	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24522788	T	C	24522788	3	2	28	1	0	0	0	0	1	0	0	0	7954	1783	62	4	3926	4	ITSN2	2	24522788	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	6823760	24522788	218676585	20	4974											
OTOF	9381	hgsc.bcm.edu;bcgsc.ca	37	chr2	26684681	26684683	+	In_Frame_Del	DEL	TCT	TCT	-													ctccttcttggagatgacgaTcttctcctccgccgccaggt							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:26684681_26684683delTCT	ENST00000272371.2	-	43	5540_5542	c.5414_5416delAGA	c.(5413-5418)aagatc>atc	p.K1805del	OTOF_ENST00000339598.3_In_Frame_Del_p.K1038del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1805del|OTOF_ENST00000338581.6_In_Frame_Del_p.K1038del|OTOF_ENST00000402415.3_In_Frame_Del_p.K1115del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1805					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)					GAGATGACGATCTTCTCCTCCGC	0.596																																					p.1805_1806del	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.5414_5416del						.																																			SO:0001651	inframe_deletion	9381	exon43			TGACGATCTTCTC	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.5414_5416delAGA	2.37:g.26684684_26684686delTCT	ENSP00000272371:p.Lys1805del	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	341	75	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	CCDS1725.1																																																																																			.		0.596	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			-	26684683	TCT	-	26684681	7	5	28	1	0	1	0	1	0	0	0	0	11342	1435	50	0	778	0	OTOF	2	26684681	In_Frame_Del	DEL	TCT	TCGA-OR-A5K5-01A-11D-A29I-10	2161893	26684681	216514692	21	4975											
OTOF	9381	broad.mit.edu	37	chr2	26696027	26696027	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttccagctgggggccgagcGgtctgggggccggtagatga	20	9	1	2	rs199904558		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:26696027G>C	ENST00000272371.2	-	29	3832	c.3706C>G	c.(3706-3708)Cgc>Ggc	p.R1236G	OTOF_ENST00000339598.3_Missense_Mutation_p.R489G|OTOF_ENST00000403946.3_Missense_Mutation_p.R1236G|OTOF_ENST00000338581.6_Missense_Mutation_p.R489G|OTOF_ENST00000402415.3_Missense_Mutation_p.R546G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1236			R -> Q. {ECO:0000269|PubMed:18381613}.		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)					GGGGCCGAGCGGTCTGGGGGC	0.687																																					p.R1236G	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.C3706G						.	G	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	34	39	37		1465,3706,1636,1465	3.7	0.9	2		37	8,8590	6.4+/-24.3	0,8,4291	yes	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	125,125,125,125	0,8,6494	CC,CG,GG		0.093,0.0,0.0615	benign,benign,benign,benign	489/1231,1236/1998,546/1308,489/1231	26696027	8,12996	2203	4299	6502	SO:0001583	missense	9381	exon29			CCGAGCGGTCTGG	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.3706C>G	2.37:g.26696027G>C	ENSP00000272371:p.Arg1236Gly	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	137	5	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.183493|2.183493	0.38609|0.38609	0.0|0.0	9.3E-4|9.3E-4	ENSG00000115155|ENSG00000115155	ENST00000426958|ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.|T;T;T;T;T	.|0.80304	.|-1.14;-1.14;-1.1;-1.36;-1.36	4.63|4.63	3.72|3.72	0.42706|0.42706	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.349949	.|0.28016	.|N	.|0.016937	T|T	0.75925|0.75925	0.3916|0.3916	L|L	0.60455|0.60455	1.87|1.87	0.34558|0.34558	D|D	0.712051|0.712051	.|B;B;B;B	.|0.31625	.|0.035;0.003;0.332;0.332	.|B;B;B;B	.|0.34093	.|0.051;0.007;0.175;0.116	T|T	0.77324|0.77324	-0.2630|-0.2630	5|10	.|0.32370	.|T	.|0.25	-6.8859|-6.8859	10.648|10.648	0.45632|0.45632	0.0:0.0:0.5284:0.4716|0.0:0.0:0.5284:0.4716	.|.	.|1236;489;546;489	.|Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	.|OTOF_HUMAN;.;.;.	R|G	91|489;489;546;1236;1236	.|ENSP00000345137:R489G;ENSP00000344521:R489G;ENSP00000383906:R546G;ENSP00000272371:R1236G;ENSP00000385255:R1236G	.|ENSP00000272371:R1236G	P|R	-|-	2|1	0|0	OTOF|OTOF	26549531|26549531	0.014000|0.014000	0.17966|0.17966	0.928000|0.928000	0.36995|0.36995	0.835000|0.835000	0.47333|0.47333	0.048000|0.048000	0.14078|0.14078	0.890000|0.890000	0.36211|0.36211	0.484000|0.484000	0.47621|0.47621	CCG|CGC	G|0.999;C|0.001		0.687	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			C	26696027	G	C	26696027	3	2	28	1	0	0	0	0	1	0	0	0	11342	1116	39	2	2544	2	OTOF	2	26696027	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	11346	26696027	216503346	22	4976											
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	36739479	36739479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagagctctcatgcagtaaGatctgccccttgggtttcca	9	13	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:36739479G>T	ENST00000280527.2	+	10	2089	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	574	Antistasin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00582}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATGCAGTAAGATCTGCCCCT	0.488																																					p.K574N		.											.	CRIM1-118	0			c.G1722T						.						159	154	155					2																	36739479		2203	4300	6503	SO:0001583	missense	51232	exon10			CAGTAAGATCTGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1722G>T	2.37:g.36739479G>T	ENSP00000280527:p.Lys574Asn	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	290	82	NM_016441	0	0	0	0	0	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436500	0.62955	.	.	ENSG00000150938	ENST00000280527	T	0.05855	3.38	5.91	0.481	0.16809	Proteinase inhibitor I14/I15, hirudin/antistatin (1);Proteinase inhibitor I15, antistasin (1);Proteinase inhibitor I15, antistasin-like (2);	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	M	0.78223	2.4	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.00408	-1.1758	10	0.34782	T	0.22	-22.1414	8.9875	0.36003	0.6415:0.0:0.3585:0.0	.	574	Q9NZV1	CRIM1_HUMAN	N	574	ENSP00000280527:K574N	ENSP00000280527:K574N	K	+	3	2	CRIM1	36592983	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	0.928000	0.28831	-0.144000	0.11314	-0.345000	0.07892	AAG	.		0.488	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		T	36739479	G	T	36739479	3	4	28	1	0	0	0	0	1	0	0	0	3880	933	33	3	1760	3	CRIM1	2	36739479	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	10043452	36739479	206459894	23	4977											
CCDC142	84865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	74701812	74701812	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccccttcctcctagtgtgCtttgcagctgacctgtctgg	10	14	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:74701812C>G	ENST00000393965.3	-	9	2510	c.2114G>C	c.(2113-2115)aGc>aCc	p.S705T	MRPL53_ENST00000258105.7_5'Flank|MRPL53_ENST00000409710.1_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.S698T	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	705										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCTAGTGTGCTTTGCAGCTG	0.627																																					p.S698T		.											.	CCDC142-68	0			c.G2093C						.						55	53	53					2																	74701812		2203	4300	6503	SO:0001583	missense	84865	exon9			AGTGTGCTTTGCA	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.2114G>C	2.37:g.74701812C>G	ENSP00000377537:p.Ser705Thr	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	117	19	NM_032779	0	0	7	8	1	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	C	3.324	-0.138175	0.06669	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.53640	0.61;0.62	5.02	2.19	0.27852	.	0.582706	0.18040	N	0.153637	T	0.47930	0.1472	M	0.69823	2.125	0.09310	N	1	B;P	0.40731	0.042;0.728	B;B	0.41764	0.036;0.366	T	0.37842	-0.9688	10	0.51188	T	0.08	-0.8912	9.864	0.41131	0.0:0.7477:0.0:0.2523	.	705;698	Q17RM4;Q17RM4-2	CC142_HUMAN;.	T	705;698	ENSP00000377537:S705T;ENSP00000290418:S698T	ENSP00000290418:S698T	S	-	2	0	CCDC142	74555320	0.231000	0.23751	0.624000	0.29186	0.035000	0.12851	0.397000	0.20883	0.318000	0.23185	-1.814000	0.00607	AGC	.		0.627	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		G	74701812	C	G	74701812	3	3	28	1	0	0	0	0	1	0	0	0	2783	797	28	3	142	3	CCDC142	2	74701812	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	37962333	74701812	168497561	24	4978											
SLC35F5	80255	broad.mit.edu	37	chr2	114512866	114512869	+	Frame_Shift_Del	DEL	ACAC	ACAC	-													tcattcggttcatgacaaatAcacacaccatttgcagtctg					rs143143202		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:114512866_114512869delACAC	ENST00000245680.2	-	3	559_562	c.146_149delGTGT	c.(145-150)tgtgtafs	p.CV49fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.CV43fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	49					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CATGACAAATACACACACCATTTG	0.358																																					p.49_50del		.											.	SLC35F5-90	0			c.146_149del						.																																			SO:0001589	frameshift_variant	80255	exon3			ACAAATACACACA	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.146_149delGTGT	2.37:g.114512870_114512873delACAC	ENSP00000245680:p.Cys49fs	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	78	7	NM_025181	0	0	0	0	0	Q9H6P8|Q9H7D8	Frame_Shift_Del	DEL	ENST00000245680.2	37	CCDS2119.1																																																																																			.		0.358	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		-	114512869	ACAC	-	114512866	7	5	28	1	0	1	0	1	0	0	0	0	14637	391	14	0	1474	0	SLC35F5	2	114512866	Frame_Shift_Del	DEL	ACAC	TCGA-OR-A5K5-01A-11D-A29I-10	39811054	114512866	128686507	25	4979											
DDX18	8886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	118575133	118575133	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatgaatgtgggcttatcaGaaactcaaaatggaggcatg	11	7	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:118575133G>T	ENST00000263239.2	+	2	327	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	67					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTTATCAGAAACTCAAAA	0.383																																					p.E67X		.											.	DDX18-290	0			c.G199T						.						70	78	75					2																	118575133		2203	4300	6503	SO:0001587	stop_gained	8886	exon2			TTATCAGAAACTC	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.199G>T	2.37:g.118575133G>T	ENSP00000263239:p.Glu67*	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	155	31	NM_006773	0	0	4	4	0	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Nonsense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644551	0.67358	.	.	ENSG00000088205	ENST00000263239	.	.	.	4.01	3.12	0.35913	.	1.413330	0.04437	N	0.370179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-1.42	7.8619	0.29514	0.1149:0.0:0.8851:0.0	.	.	.	.	X	67	.	ENSP00000263239:E67X	E	+	1	0	DDX18	118291603	0.992000	0.36948	0.195000	0.23364	0.008000	0.06430	4.261000	0.58841	1.041000	0.40125	-0.150000	0.13652	GAA	.		0.383	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		T	118575133	G	T	118575133	4	4	28	1	0	0	0	0	0	1	0	0	4354	943	33	3	205	3	DDX18	2	118575133	Nonsense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4062267	118575133	124624240	26	4980											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125285031	125285031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctgtgtagcatcaaagaCaggtaattattgtctcttct	8	7	4	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:125285031C>A	ENST00000431078.1	+	10	2008	c.1644C>A	c.(1642-1644)gaC>gaA	p.D548E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	548	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)		GCATCAAAGACAGGTAATTAT	0.393																																					p.D548E		.											.	CNTNAP5-524	0			c.C1644A						.						128	125	126					2																	125285031		1896	4099	5995	SO:0001583	missense	129684	exon10			CAAAGACAGGTAA	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.1644C>A	2.37:g.125285031C>A	ENSP00000399013:p.Asp548Glu	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	97	23	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441810	0.83993	.	.	ENSG00000155052	ENST00000431078	T	0.75938	-0.98	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000257	D	0.88973	0.6583	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90072	0.4164	10	0.54805	T	0.06	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	548	Q8WYK1	CNTP5_HUMAN	E	548	ENSP00000399013:D548E	ENSP00000399013:D548E	D	+	3	2	CNTNAP5	125001501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.233000	0.78125	2.629000	0.89072	0.650000	0.86243	GAC	.		0.393	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125285031	C	A	125285031	3	1	28	1	0	0	0	0	1	0	0	0	3657	477	17	3	1682	3	CNTNAP5	2	125285031	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	6709898	125285031	117914342	27	4981											
ARHGAP15	55843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	144245049	144245049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaaactctgcaagaaAaaggacttattaaaggtaca	7	8	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:144245049A>C	ENST00000295095.6	+	9	978	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	271					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTGCAAGAAAAAGGACTTAT	0.358																																					p.K271Q		.											.	ARHGAP15-653	0			c.A811C						.						79	85	83					2																	144245049		2203	4300	6503	SO:0001583	missense	55843	exon9			CAAGAAAAAGGAC	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.811A>C	2.37:g.144245049A>C	ENSP00000295095:p.Lys271Gln	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	48	14	NM_018460	0	0	1	1	0	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806208	0.70682	.	.	ENSG00000075884	ENST00000295095	T	0.10860	2.83	5.43	5.43	0.79202	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	M	0.82056	2.57	0.54753	D	0.999981	P	0.48162	0.906	B	0.38842	0.283	T	0.04165	-1.0972	10	0.87932	D	0	.	14.0484	0.64719	1.0:0.0:0.0:0.0	.	271	Q53QZ3	RHG15_HUMAN	Q	271	ENSP00000295095:K271Q	ENSP00000295095:K271Q	K	+	1	0	ARHGAP15	143961519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.350000	0.90069	2.046000	0.60703	0.533000	0.62120	AAA	.		0.358	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		C	144245049	A	C	144245049	3	2	28	1	0	0	0	0	1	0	0	0	866	15	1	5	841	5	ARHGAP15	2	144245049	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	18960018	144245049	98954324	28	4982											
FMNL2	114793	hgsc.bcm.edu;bcgsc.ca	37	chr2	153476031	153476031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttgctagtgcaaaatGgtccagtaacaccacctatg	7	10	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:153476031G>A	ENST00000288670.9	+	15	2003	c.1636G>A	c.(1636-1638)Ggt>Agt	p.G546S	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	546	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGTGCAAAATGGTCCAGTAAC	0.552																																					p.G546S		.											.	FMNL2-516	0			c.G1636A						.						21	19	20					2																	153476031		1444	3210	4654	SO:0001583	missense	114793	exon15			CAAAATGGTCCAG	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1636G>A	2.37:g.153476031G>A	ENSP00000288670:p.Gly546Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	52	10	NM_052905	0	0	0	0	0	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830650	0.71258	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.21361	2.01	5.01	5.01	0.66863	.	0.431360	0.26136	N	0.026135	T	0.07999	0.0200	N	0.03608	-0.345	0.80722	D	1	B	0.34290	0.447	B	0.26969	0.075	T	0.35599	-0.9782	10	0.22706	T	0.39	.	10.6002	0.45362	0.0:0.1424:0.7101:0.1474	.	546	Q96PY5-3	.	S	546;43	ENSP00000288670:G546S	ENSP00000288670:G546S	G	+	1	0	FMNL2	153184277	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.235000	0.89803	2.317000	0.78254	0.555000	0.69702	GGT	.		0.552	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153476031	G	A	153476031	3	1	28	1	0	0	0	0	1	0	0	0	5974	1348	47	3	1694	3	FMNL2	2	153476031	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	9230982	153476031	89723342	29	4983											
KCNH7	90134	broad.mit.edu;bcgsc.ca	37	chr2	163241222	163241222	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaagagtgacttcttttatCtatgtgcattcttcctgagg	9	8	3	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:163241222C>G	ENST00000332142.5	-	13	3037	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	980					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)	CTTCTTTTATCTATGTGCATT	0.423																																					p.D980H	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7-95	0			c.G2938C						.						137	134	135					2																	163241222		2203	4299	6502	SO:0001583	missense	90134	exon13			TTTTATCTATGTG	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.2938G>C	2.37:g.163241222C>G	ENSP00000331727:p.Asp980His	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	201	8	NM_033272	0	0	0	0	0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030090	0.35797	.	.	ENSG00000184611	ENST00000332142	D	0.98666	-5.06	5.3	4.41	0.53225	.	0.355725	0.33253	N	0.005108	D	0.95837	0.8645	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.93007	0.6428	10	0.48119	T	0.1	.	15.5392	0.76027	0.1394:0.8606:0.0:0.0	.	980	Q9NS40	KCNH7_HUMAN	H	980	ENSP00000331727:D980H	ENSP00000331727:D980H	D	-	1	0	KCNH7	162949468	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.847000	0.55895	1.352000	0.45808	0.655000	0.94253	GAT	.		0.423	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163241222	C	G	163241222	3	3	28	1	0	0	0	0	1	0	0	0	8064	913	32	3	668	3	KCNH7	2	163241222	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	9765191	163241222	79958151	30	4984											
CCDC141	285025	broad.mit.edu	37	chr2	179721022	179721022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catatcaacttgctgaatttGatatttaagcgccttcagat	6	8	2	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:179721022G>A	ENST00000420890.2	-	18	2944	c.2827C>T	c.(2827-2829)Caa>Taa	p.Q943*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.Q368*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	943										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)			TGCTGAATTTGATATTTAAGC	0.303																																					p.Q943X		.											.	CCDC141-78	0			c.C2827T						.						108	104	105					2																	179721022		2202	4299	6501	SO:0001587	stop_gained	285025	exon18			GAATTTGATATTT	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.2827C>T	2.37:g.179721022G>A	ENSP00000395995:p.Gln943*	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	101	6	NM_173648	0	0	0	0	0	H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	38	7.165626	0.98107	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	.	.	.	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-10.0716	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	943;387;368;943	.	ENSP00000295723:Q368X	Q	-	1	0	CCDC141	179429267	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.295000	0.89937	2.804000	0.96469	0.650000	0.86243	CAA	.		0.303	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179721022	G	A	179721022	4	1	28	1	0	0	0	0	0	1	0	0	2782	1299	45	3	1549	3	CCDC141	2	179721022	Nonsense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	16479800	179721022	63478351	31	4985											
CASP8	841	broad.mit.edu	37	chr2	202137439	202137440	+	Frame_Shift_Del	DEL	TG	TG	-													tggacatcctgaaaagagtcTgtgcccaaatcaacaagagc							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:202137439_202137440delTG	ENST00000432109.2	+	5	679_680	c.490_491delTG	c.(490-492)tgtfs	p.C164fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.C164fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.C164fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.C164fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.C164fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.C196fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.C223fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.C164fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	164	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAAAAGAGTCTGTGCCCAAATC	0.441										HNSCC(4;0.00038)																											p.223_223del	Melanoma(82;831 1348 20716 36952 40159)	.											.	CASP8-660	0			c.667_668del						.																																			SO:0001589	frameshift_variant	841	exon4			AGAGTCTGTGCCC	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.490_491delTG	2.37:g.202137441_202137442delTG	ENSP00000412523:p.Cys164fs	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	107	11	NM_001080125	0	0	0	0	0	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	CCDS2342.1																																																																																			.		0.441	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		-	202137440	TG	-	202137439	7	5	28	1	0	1	0	1	0	0	0	0	2684	1580	55	0	781	0	CASP8	2	202137439	Frame_Shift_Del	DEL	TG	TCGA-OR-A5K5-01A-11D-A29I-10	22416417	202137439	41061934	32	4986											
CYP20A1	57404	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	204143326	204143326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagtctgttttaaggaAcatcataaaagaacgaaaag	9	5	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:204143326A>G	ENST00000356079.4	+	7	833	c.710A>G	c.(709-711)aAc>aGc	p.N237S	CYP20A1_ENST00000429815.2_Missense_Mutation_p.N245S|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	237						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						GTTTTAAGGAACATCATAAAA	0.318																																					p.N237S		.											.	CYP20A1-90	0			c.A710G						.						76	71	73					2																	204143326		2203	4300	6503	SO:0001583	missense	57404	exon7			TAAGGAACATCAT	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.710A>G	2.37:g.204143326A>G	ENSP00000348380:p.Asn237Ser	Somatic	313	0		WXS	Illumina GAIIx	Phase_I	342	62	NM_177538	0	0	13	19	6	Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016747	0.35606	.	.	ENSG00000119004	ENST00000356079;ENST00000429815	T;T	0.28454	1.61;1.61	5.42	5.42	0.78866	.	0.307559	0.36482	N	0.002574	T	0.14700	0.0355	N	0.03608	-0.345	0.29444	N	0.858973	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.08513	-1.0718	10	0.14252	T	0.57	-10.9068	15.1576	0.72755	1.0:0.0:0.0:0.0	.	245;237	E9PHG5;Q6UW02	.;CP20A_HUMAN	S	237;245	ENSP00000348380:N237S;ENSP00000407860:N245S	ENSP00000348380:N237S	N	+	2	0	CYP20A1	203851571	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.591000	0.61019	2.058000	0.61347	0.533000	0.62120	AAC	.		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		G	204143326	A	G	204143326	3	3	28	1	0	0	0	0	1	0	0	0	4161	43	2	4	736	4	CYP20A1	2	204143326	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	2005887	204143326	39056047	33	4987											
VWC2L	402117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	215279234	215279234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggaacacaatggatgctGtcctgagtgcaaagaagtaa	12	6	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:215279234G>T	ENST00000312504.5	+	2	1119	c.317G>T	c.(316-318)tGt>tTt	p.C106F	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.C106F	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	106	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						AATGGATGCTGTCCTGAGTGC	0.398																																					p.C106F		.											.	.	0			c.G317T						.						58	54	55					2																	215279234		1877	4104	5981	SO:0001583	missense	402117	exon2			GATGCTGTCCTGA	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.317G>T	2.37:g.215279234G>T	ENSP00000308976:p.Cys106Phe	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	112	33	NM_001080500	0	0	0	0	0	A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504001	0.85176	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.75154	-0.91;-0.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.91635	0.983;0.999	T	0.83082	-0.0137	10	0.87932	D	0	-2.3868	20.3668	0.98882	0.0:0.0:1.0:0.0	.	106;106	B7ZW27;B2RUY7	.;VWC2L_HUMAN	F	106	ENSP00000308976:C106F;ENSP00000403779:C106F	ENSP00000308976:C106F	C	+	2	0	VWC2L	214987479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	TGT	.		0.398	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		T	215279234	G	T	215279234	3	4	28	1	0	0	0	0	1	0	0	0	17293	1377	48	3	319	3	VWC2L	2	215279234	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	11135908	215279234	27920139	34	4988											
ZNF142	7701	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219508012	219508012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccattcttcgggggagcaGagtccccattgctcaacggg	12	13	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:219508012G>A	ENST00000449707.1	-	8	3648	c.3227C>T	c.(3226-3228)tCt>tTt	p.S1076F	ZNF142_ENST00000411696.2_Missense_Mutation_p.S1076F	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGGGGAGCAGAGTCCCCATT	0.607																																					p.S1076F	Colon(170;867 1942 8995 15834 18053)	.											.	ZNF142-137	0			c.C3227T						.						57	61	60					2																	219508012		1920	4123	6043	SO:0001583	missense	7701	exon8			GGAGCAGAGTCCC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3227C>T	2.37:g.219508012G>A	ENSP00000408643:p.Ser1076Phe	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	222	46	NM_001105537	0	0	0	1	1	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719734	0.30503	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12465	2.68;2.68	3.87	3.87	0.44632	.	0.522462	0.19991	N	0.101550	T	0.16428	0.0395	L	0.29908	0.895	0.36508	D	0.869425	P;P	0.47409	0.895;0.8	P;P	0.49226	0.603;0.548	T	0.09975	-1.0650	10	0.59425	D	0.04	-13.3042	14.1644	0.65466	0.0:0.0:1.0:0.0	.	1076;913	P52746;A8MWU9	ZN142_HUMAN;.	F	1076	ENSP00000408643:S1076F;ENSP00000398798:S1076F	ENSP00000398798:S1076F	S	-	2	0	ZNF142	219216256	0.000000	0.05858	0.921000	0.36526	0.017000	0.09413	-0.027000	0.12371	2.465000	0.83290	0.655000	0.94253	TCT	.		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		A	219508012	G	A	219508012	3	1	28	1	0	0	0	0	1	0	0	0	17779	942	33	3	1848	3	ZNF142	2	219508012	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4228778	219508012	23691361	35	4989											
CCDC108	255101	broad.mit.edu	37	chr2	219896232	219896232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattatccaggcagaaaAaggcctcagtcgtatctccc	7	14	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:219896232A>G	ENST00000341552.5	-	7	877	c.794T>C	c.(793-795)tTt>tCt	p.F265S	CCDC108_ENST00000453220.1_Missense_Mutation_p.F265S|CCDC108_ENST00000410037.1_Missense_Mutation_p.F200S|CCDC108_ENST00000441968.1_Missense_Mutation_p.F265S|CCDC108_ENST00000409865.3_Missense_Mutation_p.F254S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	265						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCAGAAAAAGGCCTCAGT	0.622																																					p.F265S		.											.	CCDC108-94	0			c.T794C						.						182	185	184					2																	219896232		2203	4300	6503	SO:0001583	missense	255101	exon7			CAGAAAAAGGCCT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.794T>C	2.37:g.219896232A>G	ENSP00000340776:p.Phe265Ser	Somatic	403	1		WXS	Illumina GAIIx	Phase_I	588	12	NM_194302	0	0	0	0	0	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	a	0.111	-1.138522	0.01742	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.05649	3.71;3.71;3.71;3.41;3.44	5.15	2.23	0.28157	PapD-like (1);	0.441533	0.16990	N	0.191339	T	0.02455	0.0075	N	0.02539	-0.55	0.54753	D	0.999988	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.43261	-0.9402	10	0.08599	T	0.76	-1.1773	11.6476	0.51269	0.1113:0.4674:0.4213:0.0	.	254;265	E9PG25;Q6ZU64	.;CC108_HUMAN	S	265;265;265;254;200;199	ENSP00000340776:F265S;ENSP00000413377:F265S;ENSP00000409117:F265S;ENSP00000386945:F254S;ENSP00000386258:F200S	ENSP00000340776:F265S	F	-	2	0	CCDC108	219604476	0.042000	0.20092	0.981000	0.43875	0.004000	0.04260	0.415000	0.21181	0.585000	0.29608	-0.745000	0.03516	TTT	.		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		G	219896232	A	G	219896232	3	3	28	1	0	0	0	0	1	0	0	0	2750	14	1	4	5099	4	CCDC108	2	219896232	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	388220	219896232	23303141	36	4990											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	230656613	230656613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctttgtccaaataccagCtctgcctagaggattgctct	8	11	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:230656613C>T	ENST00000283943.5	-	28	4337	c.4159G>A	c.(4159-4161)Gct>Act	p.A1387T	TRIP12_ENST00000389045.3_Missense_Mutation_p.A1117T|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1435T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1387					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)		CAAATACCAGCTCTGCCTAGA	0.378																																					p.A1387T		.											.	TRIP12-572	0			c.G4159A						.						191	185	187					2																	230656613		2203	4300	6503	SO:0001583	missense	9320	exon28			TACCAGCTCTGCC	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.4159G>A	2.37:g.230656613C>T	ENSP00000283943:p.Ala1387Thr	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	255	126	NM_004238	0	0	9	14	5	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379425	0.95945	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.49432	0.78;1.14;0.78	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.22421	0.69	0.80722	D	1	D;D;D	0.63880	0.993;0.982;0.993	D;P;D	0.70935	0.971;0.862;0.971	T	0.49925	-0.8887	10	0.26408	T	0.33	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	1117;1435;1387	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1387;1117;1435	ENSP00000283943:A1387T;ENSP00000373697:A1117T;ENSP00000373696:A1435T	ENSP00000283943:A1387T	A	-	1	0	TRIP12	230364857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.446000	0.80609	2.712000	0.92718	0.585000	0.79938	GCT	.		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230656613	C	T	230656613	3	4	28	1	0	0	0	0	1	0	0	0	16604	797	28	3	1875	3	TRIP12	2	230656613	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	10760381	230656613	12542760	37	4991											
NMUR1	10316	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	232393591	232393591	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccccaggtacttgagtctCagtgcctcgtcagtcaggtt	12	12	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:232393591C>A	ENST00000305141.4	-	2	274	c.141G>T	c.(139-141)ctG>ctT	p.L47L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	47					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)		ACTTGAGTCTCAGTGCCTCGT	0.602																																					p.L47L		.											.	NMUR1-523	0			c.G141T						.						64	53	57					2																	232393591		2203	4300	6503	SO:0001819	synonymous_variant	10316	exon2			GAGTCTCAGTGCC	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.141G>T	2.37:g.232393591C>A		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	209	22	NM_006056	0	0	0	0	0	O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	CCDS2486.1																																																																																			.		0.602	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		A	232393591	C	A	232393591	2	1	28	1	0	0	0	0	0	0	0	1	10545	813	29	3		3	NMUR1	2	232393591	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	1736978	232393591	10805782	38	4992											
DIS3L2	129563	broad.mit.edu	37	chr2	233194545	233194545	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggaggagttcatgctcTtggccaacatggcagtggcc	14	10	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:233194545T>A	ENST00000409307.1	+	14	1762	c.1762T>A	c.(1762-1764)Ttg>Atg	p.L588M	DIS3L2_ENST00000325385.7_Missense_Mutation_p.L588M|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GTTCATGCTCTTGGCCAACAT	0.677																																					p.L588M		.											.	DIS3L2-136	0			c.T1762A						.						22	26	25					2																	233194545		1958	4141	6099	SO:0001583	missense	129563	exon15			ATGCTCTTGGCCA	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.1762T>A	2.37:g.233194545T>A	ENSP00000386799:p.Leu588Met	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	74	3	NM_152383	0	0	28	28	0		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.140789	0.77775	.	.	ENSG00000144535	ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.51325	0.71;0.71;0.71	5.28	-7.68	0.01268	Ribonuclease II/R (2);	0.000000	0.64402	D	0.000013	T	0.68201	0.2975	M	0.83223	2.63	0.49130	D	0.999751	D	0.89917	1.0	D	0.83275	0.996	T	0.76716	-0.2857	10	0.56958	D	0.05	-16.3333	23.5171	0.99983	0.0:0.8556:0.0:0.1444	.	588	Q8IYB7	DI3L2_HUMAN	M	588;588;588;223	ENSP00000315569:L588M;ENSP00000386799:L588M;ENSP00000415419:L223M	ENSP00000315569:L588M	L	+	1	2	DIS3L2	232902789	0.014000	0.17966	0.020000	0.16555	0.996000	0.88848	0.119000	0.15626	-1.720000	0.01380	0.445000	0.29226	TTG	.		0.677	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		A	233194545	T	A	233194545	3	1	28	1	0	0	0	0	1	0	0	0	4551	1606	56	5	1816	5	DIS3L2	2	233194545	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	800954	233194545	10004828	39	4993											
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	241715297	241715298	+	Frame_Shift_Ins	INS	-	-	CGGAATCT													ccggaggagccaggtcaacaINScggaatctcggtacggaatg							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr2:241715297_241715298insCGGAATCT	ENST00000320389.7	-	11	1086_1087	c.928_929insAGATTCCG	c.(928-930)gtgfs	p.V310fs	KIF1A_ENST00000498729.2_Frame_Shift_Ins_p.V310fs	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	310	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGGTCAACACGGAATCTCGG	0.554																																					p.V310fs		.											.	KIF1A-91	0			c.929_930insAGATTCCG						.																																			SO:0001589	frameshift_variant	547	exon11			GTCAACACGGAAT	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.921_928dupAGATTCCG	2.37:g.241715298_241715305dupCGGAATCT	ENSP00000322791:p.Val310fs	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	105	8	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Frame_Shift_Ins	INS	ENST00000320389.7	37	CCDS46561.1																																																																																			.		0.554	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		CGGAATCT	241715298	-	CGGAATCT	241715297	7	5	28	1	0	1	1	0	0	0	0	0	8310	159	6	0	4291	0	KIF1A	2	241715297	Frame_Shift_Ins	INS	-	TCGA-OR-A5K5-01A-11D-A29I-10	8520752	241715297	1484076	40	4994											
PRRT3	285368	bcgsc.ca	37	chr3	9990800	9990800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccacctggcttagacggccGatcaggagcctctgaggcgg	14	14	2	2	rs59465469	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:9990800G>C	ENST00000412055.1	-	2	1129	c.1000C>G	c.(1000-1002)Cgg>Ggg	p.R334G	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.R334G	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	334	Pro-rich.		R -> G (in dbSNP:rs59465469). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)		p.R334G(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TTAGACGGCCGATCAGGAGCC	0.612													C|||	1910	0.38139	0.8132	0.3256	5008	,	,		17430	0.1558		0.2137	False		,,,				2504	0.2423				p.R334G		.											.	PRRT3-90	1	Substitution - Missense(1)	stomach(1)	c.C1000G						.	C	GLY/ARG	2648,1206		933,782,212	51	61	58		1000	2.2	0	3	dbSNP_129	58	2056,6232		268,1520,2356	yes	missense	PRRT3	NM_207351.3	125	1201,2302,2568	CC,CG,GG		24.8069,31.2922,38.7416	benign	334/982	9990800	4704,7438	1927	4144	6071	SO:0001583	missense	285368	exon2			ACGGCCGATCAGG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1000C>G	3.37:g.9990800G>C	ENSP00000392511:p.Arg334Gly	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_207351	0	0	1	4	3	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	CCDS43049.1	803	0.3676739926739927	397	0.806910569105691	123	0.3397790055248619	118	0.2062937062937063	165	0.21767810026385223	C	0.009	-1.814685	0.00600	0.687078	0.248069	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.16324	2.6;2.35	4.03	2.22	0.28083	.	0.272597	0.26967	N	0.021588	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13872	-1.0493	8	.	.	.	-2.0801	6.3107	0.21163	0.0:0.5378:0.3618:0.1004	rs59465469;rs62245482	334;334	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	G	334	ENSP00000392511:R334G;ENSP00000404512:R334G	.	R	-	1	2	PRRT3	9965800	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.038000	0.13862	0.272000	0.22027	-0.978000	0.02582	CGG	G|0.674;C|0.326		0.612	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		C	9990800	G	C	9990800	3	2	28	1	0	0	0	0	1	0	0	0	12653	1057	37	2	1957	2	PRRT3	3	9990800	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		9990800	188031630	41	4995											
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	37396592	37396592	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgtttttcttgtagAccatggcaaaagttataacc	6	8	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:37396592A>C	ENST00000361924.2	+	22	6951	c.6577A>C	c.(6577-6579)Acc>Ccc	p.T2193P	GOLGA4_ENST00000356847.4_Splice_Site_p.T2208P|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2193	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTCTTGTAGACCATGGCAAA	0.413																																					p.T2208P		.											.	GOLGA4-93	0			c.A6622C						.						154	149	150					3																	37396592		2203	4299	6502	SO:0001630	splice_region_variant	2803	exon22			TTGTAGACCATGG	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6577-1A>C	3.37:g.37396592A>C		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	75	13	NM_001172713	0	0	0	0	0	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476307	0.63737	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.41400	1.1;1.0;1.1	5.82	5.82	0.92795	GRIP (5);	0.000000	0.37483	N	0.002062	T	0.63402	0.2508	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.62992	-0.6736	9	.	.	.	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	2193;2208;2193	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	P	2193;2208;2064	ENSP00000354486:T2193P;ENSP00000349305:T2208P;ENSP00000405842:T2064P	.	T	+	1	0	GOLGA4	37371596	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.672000	0.68102	2.225000	0.72522	0.460000	0.39030	ACC	.		0.413	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Missense_Mutation	C	37396592	A	C	37396592	5	2	28	1	0	0	0	0	0	0	1	0	6581	289	10	5	6733	5	GOLGA4	3	37396592	Splice_Site	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	27405792	37396592	160625838	42	4996											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	41266104	41266104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagtcttacctggactctgGaatccattctggtgccacta	8	12	3	0	rs28931589|rs121913416		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:41266104G>T	ENST00000349496.5	+	3	381	c.101G>T	c.(100-102)gGa>gTa	p.G34V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.G34V	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	276	Substitution - Missense(145)|Deletion - In frame(105)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(146)|endometrium(30)|large_intestine(27)|stomach(21)|central_nervous_system(20)|skin(8)|pancreas(8)|ovary(6)|small_intestine(2)|lung(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|pituitary(1)|prostate(1)|bone(1)	c.G101T						.						93	78	83					3																	41266104		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ACTCTGGAATCCA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.101G>T	3.37:g.41266104G>T	ENSP00000344456:p.Gly34Val	Somatic	205	1		WXS	Illumina GAIIx	Phase_I	218	74	NM_001098209	0	0	51	70	19	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450603	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	rs28931589	34	P35222	CTNB1_HUMAN	V	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27V;ENSP00000385604:G34V;ENSP00000412219:G34V;ENSP00000379486:G34V;ENSP00000344456:G34V;ENSP00000411226:G27V;ENSP00000379488:G34V;ENSP00000409302:G34V;ENSP00000401599:G34V	ENSP00000344456:G34V	G	+	2	0	CTNNB1	41241108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA	G|1.000;T|0.000		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		T	41266104	G	T	41266104	3	4	28	1	0	0	0	0	1	0	0	0	4025	1174	41	3	107	3	CTNNB1	3	41266104	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	3869512	41266104	156756326	43	4997											
COL7A1	1294	broad.mit.edu	37	chr3	48621170	48621170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctcctttctttccaGgggggccaacggggccttgg	12	12	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:48621170G>A	ENST00000328333.8	-	39	4429	c.4322C>T	c.(4321-4323)cCt>cTt	p.P1441L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1441L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1441	Interrupted collagenous region.|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)		TTTCTTTCCAGGGGGGCCAAC	0.577																																					p.P1441L		.											.	COL7A1-160	0			c.C4322T	GRCh37	CD993036	COL7A1	D		.						51	57	55					3																	48621170		2203	4300	6503	SO:0001583	missense	1294	exon39			TTTCCAGGGGGGC	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.4322C>T	3.37:g.48621170G>A	ENSP00000332371:p.Pro1441Leu	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_000094	0	0	0	0	0	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193481	0.22037	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96685	-4.09;-4.09	5.37	3.5	0.40072	.	1.025530	0.07826	N	0.960520	D	0.94941	0.8364	M	0.73319	2.225	0.22424	N	0.999113	B	0.20887	0.049	B	0.14023	0.01	D	0.88290	0.2942	10	0.49607	T	0.09	.	8.4018	0.32590	0.0843:0.1543:0.7614:0.0	.	1441	Q02388	CO7A1_HUMAN	L	1441	ENSP00000332371:P1441L;ENSP00000412569:P1441L	ENSP00000332371:P1441L	P	-	2	0	COL7A1	48596174	0.218000	0.23608	0.724000	0.30704	0.844000	0.47949	2.042000	0.41222	1.263000	0.44181	0.655000	0.94253	CCT	.		0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48621170	G	A	48621170	3	1	28	1	0	0	0	0	1	0	0	0	3711	1000	35	3	4832	3	COL7A1	3	48621170	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	7355066	48621170	149401260	44	4998											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	28	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	17929592	66550762	131471668	45	4999											
KIAA1407	57577	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	113697118	113697120	+	In_Frame_Del	DEL	TCT	TCT	-													gttaaaccaggccctgaaaaTcttcttttgaagaaaatgta							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:113697118_113697120delTCT	ENST00000295878.3	-	16	2665_2667	c.2519_2521delAGA	c.(2518-2523)aagatt>att	p.K840del		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	840										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCCTGAAAATCTTCTTTTGAAG	0.409																																					p.840_841del		.											.	KIAA1407-92	0			c.2519_2521del						.																																			SO:0001651	inframe_deletion	57577	exon16			TGAAAATCTTCTT	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.2519_2521delAGA	3.37:g.113697121_113697123delTCT	ENSP00000295878:p.Lys840del	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	99	21	NM_020817	0	0	0	0	0	B4DYL1|Q9P2E0	In_Frame_Del	DEL	ENST00000295878.3	37	CCDS2977.1																																																																																			.		0.409	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		-	113697120	TCT	-	113697118	7	5	28	1	0	1	0	1	0	0	0	0	8256	1435	50	0	297	0	KIAA1407	3	113697118	In_Frame_Del	DEL	TCT	TCGA-OR-A5K5-01A-11D-A29I-10	47146356	113697118	84325312	46	5000											
OSBPL11	114885	broad.mit.edu;bcgsc.ca	37	chr3	125257453	125257453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccacagtgttggtgatGttgtgctttacttcagctgt	10	8	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:125257453G>A	ENST00000296220.5	-	11	2155	c.1866C>T	c.(1864-1866)aaC>aaT	p.N622N		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	622					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTTGGTGATGTTGTGCTTTA	0.383																																					p.N622N		.											.	OSBPL11-135	0			c.C1866T						.						285	247	260					3																	125257453		2203	4300	6503	SO:0001819	synonymous_variant	114885	exon11			GGTGATGTTGTGC	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1866C>T	3.37:g.125257453G>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	140	9	NM_022776	0	0	3	4	1	A8K9I7	Silent	SNP	ENST00000296220.5	37	CCDS3033.1																																																																																			.		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		A	125257453	G	A	125257453	2	1	28	1	0	0	0	0	0	0	0	1	11315	1368	48	3		3	OSBPL11	3	125257453	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	11560335	125257453	72764977	47	5001											
PLXND1	23129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	129290586	129290586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtaccagaaggtgaggTtgccgtgcacgcagccccga	14	12	0	2	rs371911654		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:129290586T>C	ENST00000324093.4	-	16	3357	c.3179A>G	c.(3178-3180)aAc>aGc	p.N1060S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1060S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1060	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAAGGTGAGGTTGCCGTGCAC	0.677																																					p.N1060S	Ovarian(97;366 1484 3738 22084 39045)	.											.	PLXND1-90	0			c.A3179G						.	T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	55	55	55		3179	3.5	1	3		55	0,8598		0,0,4299	no	missense	PLXND1	NM_015103.2	46	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	benign	1060/1926	129290586	1,13003	2203	4299	6502	SO:0001583	missense	23129	exon16			GTGAGGTTGCCGT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3179A>G	3.37:g.129290586T>C	ENSP00000317128:p.Asn1060Ser	Somatic	279	2		WXS	Illumina GAIIx	Phase_I	422	84	NM_015103	0	0	21	24	3	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	6.555	0.470772	0.12461	2.27E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.76186	-1.0;-1.0	4.67	3.51	0.40186	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.479039	0.22318	N	0.061653	T	0.60932	0.2307	L	0.31845	0.965	0.38276	D	0.942309	B	0.14438	0.01	B	0.17722	0.019	T	0.53464	-0.8435	10	0.20519	T	0.43	.	10.1035	0.42519	0.0:0.0797:0.0:0.9203	.	1060	Q9Y4D7	PLXD1_HUMAN	S	1060	ENSP00000317128:N1060S;ENSP00000376931:N1060S	ENSP00000317128:N1060S	N	-	2	0	PLXND1	130773276	1.000000	0.71417	0.964000	0.40570	0.161000	0.22273	2.694000	0.47035	0.661000	0.30985	0.459000	0.35465	AAC	.		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		C	129290586	T	C	129290586	3	2	28	1	0	0	0	0	1	0	0	0	12166	1725	60	4	2682	4	PLXND1	3	129290586	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	4033133	129290586	68731844	48	5002											
TMCC1	23023	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	129370603	129370603	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctgctgctgcagctccatCttggagatgcgcgtctggca	13	12	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:129370603C>G	ENST00000393238.3	-	6	2023	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N	TMCC1_ENST00000329333.5_Missense_Mutation_p.K382N|TMCC1_ENST00000432054.2_Missense_Mutation_p.K237N|TMCC1_ENST00000426664.2_Missense_Mutation_p.K447N	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	561						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						GCAGCTCCATCTTGGAGATGC	0.577																																					p.K561N		.											.	TMCC1-91	0			c.G1683C						.						72	71	71					3																	129370603		2203	4300	6503	SO:0001583	missense	23023	exon6			CTCCATCTTGGAG	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.1683G>C	3.37:g.129370603C>G	ENSP00000376930:p.Lys561Asn	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	82	17	NM_001017395	0	1	17	23	5	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141248	0.77775	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.84372	0.0544	10	0.87932	D	0	-14.08	18.8307	0.92137	0.0:1.0:0.0:0.0	.	382;561	B4DE04;O94876	.;TMCC1_HUMAN	N	237;561;447;382	ENSP00000404711:K237N;ENSP00000376930:K561N;ENSP00000389892:K447N;ENSP00000327349:K382N	ENSP00000327349:K382N	K	-	3	2	TMCC1	130853293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.929000	0.70096	2.689000	0.91719	0.655000	0.94253	AAG	.		0.577	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		G	129370603	C	G	129370603	3	3	28	1	0	0	0	0	1	0	0	0	16039	912	32	3	282	3	TMCC1	3	129370603	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	80017	129370603	68651827	49	5003											
RYK	6259	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	133896850	133896850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaagattcccccaattcaTgtaaggcaatatcaccatgg	6	10	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:133896850T>C	ENST00000427044.2	-	12	1283	c.673A>G	c.(673-675)Atg>Gtg	p.M225V	RYK_ENST00000296084.4_Missense_Mutation_p.M415V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	411					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CCCCAATTCATGTAAGGCAAT	0.338																																					.		.											.	RYK-1379	0			.						.						99	91	94					3																	133896850		1808	4068	5876	SO:0001583	missense	6259	.			AATTCATGTAAGG	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.673A>G	3.37:g.133896850T>C	ENSP00000399527:p.Met225Val	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	167	86	.	0	0	17	23	6	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.	.	.	.	.	.	.	.	.	.	T	11.70	1.716623	0.30413	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	T;D	0.89270	0.77;-2.49	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.036708	0.85682	D	0.000000	D	0.84056	0.5388	L	0.35288	1.05	0.80722	D	1	B;B	0.16802	0.019;0.015	B;B	0.20955	0.032;0.019	T	0.79117	-0.1935	10	0.28530	T	0.3	-9.2237	15.9325	0.79675	0.0:0.0:0.0:1.0	.	411;414	P34925;P34925-2	RYK_HUMAN;.	V	415;225	ENSP00000296084:M415V;ENSP00000399527:M225V	ENSP00000296084:M415V	M	-	1	0	RYK	135379540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.761000	0.62243	2.169000	0.68431	0.528000	0.53228	ATG	.		0.338	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		C	133896850	T	C	133896850	3	2	28	1	0	0	0	0	1	0	0	0	13812	1464	51	4	603	4	RYK	3	133896850	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	4526247	133896850	64125580	50	5004											
COPB2	9276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	139077931	139077931	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcttttaatccagggAacaggttttcatactctgtt	8	8	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:139077931A>T	ENST00000333188.5	-	19	2574	c.2393T>A	c.(2392-2394)tTc>tAc	p.F798Y	COPB2_ENST00000507777.1_Missense_Mutation_p.F769Y	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	798					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)			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						TAATCCAGGGAACAGGTTTTC	0.448																																					p.F798Y		.											.	COPB2-92	0			c.T2393A						.						140	143	142					3																	139077931		2203	4300	6503	SO:0001583	missense	9276	exon19			CCAGGGAACAGGT	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.2393T>A	3.37:g.139077931A>T	ENSP00000329419:p.Phe798Tyr	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	105	21	NM_004766	0	1	177	230	52	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.847141	0.91277	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.80393	-1.37;-1.29	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91941	0.5563	10	0.72032	D	0.01	-19.7271	15.2407	0.73468	1.0:0.0:0.0:0.0	.	798	P35606	COPB2_HUMAN	Y	798;769	ENSP00000329419:F798Y;ENSP00000422295:F769Y	ENSP00000329419:F798Y	F	-	2	0	COPB2	140560621	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	8.825000	0.92029	2.010000	0.58986	0.533000	0.62120	TTC	.		0.448	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		T	139077931	A	T	139077931	3	4	28	1	0	0	0	0	1	0	0	0	3736	246	9	5	343	5	COPB2	3	139077931	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	5181081	139077931	58944499	51	5005											
ZBTB38	253461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	141162487	141162487	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctaccattggacaaaatggAggttcattcacaggtccaga	9	10	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:141162487A>T	ENST00000514251.1	+	4	1536	c.1257A>T	c.(1255-1257)ggA>ggT	p.G419G	ZBTB38_ENST00000441582.2_Silent_p.G419G|ZBTB38_ENST00000321464.5_Silent_p.G420G					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						GACAAAATGGAGGTTCATTCA	0.433																																					p.G419G		.											.	ZBTB38-25	0			c.A1257T						.						100	96	97					3																	141162487		1876	4096	5972	SO:0001819	synonymous_variant	253461	exon8			AAATGGAGGTTCA	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.1257A>T	3.37:g.141162487A>T		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	171	48	NM_001080412	0	0	0	0	0		Silent	SNP	ENST00000514251.1	37	CCDS43157.1																																																																																			.		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141162487	A	T	141162487	2	4	28	1	0	0	0	0	0	0	0	1	17587	291	11	5		5	ZBTB38	3	141162487	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	2084556	141162487	56859943	52	5006											
CCNL1	57018	hgsc.bcm.edu;bcgsc.ca	37	chr3	156868131	156868134	+	Frame_Shift_Del	DEL	AACA	AACA	-													atagtctctggttgaaatcgAacaaacacattggttcgaag							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	AACA	AACA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:156868131_156868134delAACA	ENST00000295926.3	-	6	829_832	c.711_714delTGTT	c.(709-714)tttgttfs	p.FV237fs	CCNL1_ENST00000461804.1_Frame_Shift_Del_p.FV237fs|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	237	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)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTTGAAATCGAACAAACACATTGG	0.363																																					p.237_238del		.											.	CCNL1-659	0			c.711_714del						.																																			SO:0001589	frameshift_variant	57018	exon6			AAATCGAACAAAC	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.711_714delTGTT	3.37:g.156868135_156868138delAACA	ENSP00000295926:p.Phe237fs	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	204	39	NM_020307	0	0	0	0	0	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Frame_Shift_Del	DEL	ENST00000295926.3	37	CCDS3178.1																																																																																			.		0.363	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		-	156868134	AACA	-	156868131	7	5	28	1	0	1	0	1	0	0	0	0	2938	233	9	0	890	0	CCNL1	3	156868131	Frame_Shift_Del	DEL	AACA	TCGA-OR-A5K5-01A-11D-A29I-10	15705644	156868131	41154299	53	5007											
CCDC39	339829	ucsc.edu	37	chr3	180337128	180337128	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttttgttcttctagTtgaatttttagctcatactc	5	8	4	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:180337128T>A	ENST00000442201.2	-	16	2303	c.2184A>T	c.(2182-2184)caA>caT	p.Q728H	CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	728					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTTCTTCTAGTTGAATTTTTA	0.274																																					p.Q728H		.											.	CCDC39-72	0			c.A2184T						.						133	109	116					3																	180337128		1736	3977	5713	SO:0001583	missense	339829	exon16			TTCTAGTTGAATT	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2184A>T	3.37:g.180337128T>A	ENSP00000405708:p.Gln728His	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	34	4	NM_181426	0	0	0	0	0	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957005	0.34565	.	.	ENSG00000145075	ENST00000442201	T	0.80480	-1.38	5.54	1.6	0.23607	.	.	.	.	.	T	0.70710	0.3255	L	0.47716	1.5	0.80722	D	1	B	0.17038	0.02	B	0.21708	0.036	T	0.63883	-0.6536	9	0.59425	D	0.04	.	4.2111	0.10512	0.1249:0.0684:0.1305:0.6762	.	728	Q9UFE4	CCD39_HUMAN	H	728	ENSP00000405708:Q728H	ENSP00000405708:Q728H	Q	-	3	2	CCDC39	181819822	0.994000	0.37717	1.000000	0.80357	0.956000	0.61745	0.145000	0.16157	0.372000	0.24591	-0.256000	0.11100	CAA	.		0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		A	180337128	T	A	180337128	3	1	28	1	0	0	0	0	1	0	0	0	2818	1722	60	5	661	5	CCDC39	3	180337128	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	23468997	180337128	17685302	54	5008											
MCCC1	56922	mdanderson.org	37	chr3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagtgtgtctgttggcctGagcaccttctctgtagaaca	12	9	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:182733294G>A	ENST00000265594.4	-	19	2256	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Q595*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	704	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				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)	CTGTTGGCCTGAGCACCTTCT	0.443																																					p.Q704X		.											.	MCCC1-92	0			c.C2110T						.						332	310	317					3																	182733294		2203	4300	6503	SO:0001587	stop_gained	56922	exon19			TGGCCTGAGCACC	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.2110C>T	3.37:g.182733294G>A	ENSP00000265594:p.Gln704*	Somatic	150	4		WXS	Illumina GAIIx	Phase_I	258	45	NM_020166	0	0	29	32	3	Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39	7.879796	0.98539	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.9868	0.89158	0.0:0.0:1.0:0.0	.	.	.	.	X	704;595;554	.	ENSP00000265594:Q704X	Q	-	1	0	MCCC1	184215988	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	5.982000	0.70532	2.530000	0.85305	0.511000	0.50034	CAG	.		0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		A	182733294	G	A	182733294	4	1	28	1	0	0	0	0	0	1	0	0	9412	1299	45	3	71	3	MCCC1	3	182733294	Nonsense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	2396166	182733294	15289136	55	5009											
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	183035998	183035999	+	Frame_Shift_Ins	INS	-	-	C													caaggtcaaggcaaagttttINScgatggcctggaaggtcaga							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:183035998_183035999insC	ENST00000328913.3	-	7	907_908	c.610_611insG	c.(610-612)gaafs	p.E204fs	MCF2L2_ENST00000447025.2_Frame_Shift_Ins_p.E204fs|MCF2L2_ENST00000414362.2_Frame_Shift_Ins_p.E204fs|MCF2L2_ENST00000473233.1_Frame_Shift_Ins_p.E204fs	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	204							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCAAAGTTTTCGATGGCCTGG	0.46																																					p.E204fs		.											.	MCF2L2-293	0			c.611_612insG						.																																			SO:0001589	frameshift_variant	23101	exon7			AAGTTTTCGATGG	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.611dupG	3.37:g.183035999_183035999dupC	ENSP00000328118:p.Glu204fs	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	199	36	NM_015078	0	0	0	0	0	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Frame_Shift_Ins	INS	ENST00000328913.3	37	CCDS3243.1																																																																																			.		0.46	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	183035999	-	C	183035998	7	5	28	1	0	1	1	0	0	0	0	0	9418	1783	62	0	2829	0	MCF2L2	3	183035998	Frame_Shift_Ins	INS	-	TCGA-OR-A5K5-01A-11D-A29I-10	302704	183035998	14986432	56	5010											
IGF2BP2	10644	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	185407396	185407396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtagttctcaaactgatgccCgcttagcttctccatggctc	8	13	2	1	rs148304949		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr3:185407396C>G	ENST00000382199.2	-	6	519	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G85R|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G148R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G142R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	142	RRM 2. {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)			AACTGATGCCCGCTTAGCTTC	0.592																																					p.G142R		.											.	IGF2BP2-226	0			c.G424C						.						60	63	62					3																	185407396		2203	4300	6503	SO:0001583	missense	10644	exon6			GATGCCCGCTTAG	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.424G>C	3.37:g.185407396C>G	ENSP00000371634:p.Gly142Arg	Somatic	221	2		WXS	Illumina GAIIx	Phase_I	319	41	NM_001007225	0	0	14	17	3	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704171	0.88924	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105189	0.64402	D	0.000003	T	0.55242	0.1908	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.999;0.999;1.0;0.993;0.999	D;D;D;D;D;D	0.77004	0.97;0.987;0.987;0.981;0.931;0.989	T	0.60224	-0.7305	10	0.87932	D	0	-6.6436	18.048	0.89338	0.0:1.0:0.0:0.0	.	79;79;85;148;142;142	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	R	142;85;148;142	ENSP00000371634:G142R;ENSP00000413787:G85R;ENSP00000410242:G148R;ENSP00000320204:G142R	ENSP00000320204:G142R	G	-	1	0	IGF2BP2	186890090	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	GGG	C|1.000;T|0.000		0.592	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		G	185407396	C	G	185407396	3	3	28	1	0	0	0	0	1	0	0	0	7601	652	23	2	1419	2	IGF2BP2	3	185407396	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2371398	185407396	12615034	57	5011											
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	36130245	36130245	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcaacacagccgtcacatCttcaagctgatgttttccag	6	12	4	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:36130245C>G	ENST00000303965.4	-	21	4039	c.3550G>C	c.(3550-3552)Gat>Cat	p.D1184H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1184	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GCCGTCACATCTTCAAGCTGA	0.388																																					p.D1184H		.											.	ARAP2-93	0			c.G3550C						.						122	118	119					4																	36130245		2203	4300	6503	SO:0001583	missense	116984	exon21			TCACATCTTCAAG	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.3550G>C	4.37:g.36130245C>G	ENSP00000302895:p.Asp1184His	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	209	72	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747153	0.89663	.	.	ENSG00000047365	ENST00000303965	T	0.20738	2.05	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.058576	0.64402	D	0.000003	T	0.55401	0.1918	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61869	-0.6974	10	0.87932	D	0	.	19.7363	0.96205	0.0:1.0:0.0:0.0	.	1184	Q8WZ64	ARAP2_HUMAN	H	1184	ENSP00000302895:D1184H	ENSP00000302895:D1184H	D	-	1	0	ARAP2	35806640	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.384000	0.79751	2.652000	0.90054	0.650000	0.86243	GAT	.		0.388	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		G	36130245	C	G	36130245	3	3	28	1	0	0	0	0	1	0	0	0	839	913	32	3	1616	3	ARAP2	4	36130245	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10		36130245	155024031	58	5012											
KIAA1211	57482	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	57180955	57180955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacgactttgaggagagGctcgaagaccaggaacgcct	13	10	0	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:57180955G>T	ENST00000504228.1	+	6	1392	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R429S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R422S			Q6ZU35	K1211_HUMAN	KIAA1211	429	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGAGGAGAGGCTCGAAGACC	0.617																																					p.R429S		.											.	KIAA1211-70	0			c.G1287T						.						18	25	23					4																	57180955		2017	4160	6177	SO:0001583	missense	57482	exon8			GGAGAGGCTCGAA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1287G>T	4.37:g.57180955G>T	ENSP00000423366:p.Arg429Ser	Somatic	221	1		WXS	Illumina GAIIx	Phase_I	220	52	NM_020722	0	0	0	0	0	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.627	1.135486	0.21123	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11495	2.77;2.77;2.77	5.03	-8.77	0.00827	.	.	.	.	.	T	0.03136	0.0092	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44003	-0.9356	9	0.19147	T	0.46	0.7406	5.0846	0.14675	0.3033:0.1094:0.4802:0.1072	.	422;422;429	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	429;429;422;339	ENSP00000264229:R429S;ENSP00000423366:R429S;ENSP00000444006:R422S	ENSP00000264229:R429S	R	+	3	2	KIAA1211	56875712	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.337000	0.07852	-0.842000	0.04195	-0.467000	0.05162	AGG	.		0.617	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57180955	G	T	57180955	3	4	28	1	0	0	0	0	1	0	0	0	8242	1194	42	3	1305	3	KIAA1211	4	57180955	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	21050710	57180955	133973321	59	5013											
LPHN3	23284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	62936396	62936396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggccgccacagagagtGttaccaccagcacccagacc	11	15	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:62936396G>A	ENST00000514591.1	+	25	4509	c.4180G>A	c.(4180-4182)Gtt>Att	p.V1394I	LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000545650.1_Missense_Mutation_p.V1394I|LPHN3_ENST00000506746.1_Missense_Mutation_p.V1496I|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000507625.1_Missense_Mutation_p.V1453I|LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000504896.1_3'UTR|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000508946.1_Missense_Mutation_p.V1437I|LPHN3_ENST00000506720.1_Missense_Mutation_p.V1505I|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000514996.1_Missense_Mutation_p.V1428I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1372					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						CACAGAGAGTGTTACCACCAG	0.537																																					p.V1394I		.											.	LPHN3-508	0			c.G4180A						.						29	38	35					4																	62936396		692	1591	2283	SO:0001583	missense	23284	exon23			GAGAGTGTTACCA	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.4180G>A	4.37:g.62936396G>A	ENSP00000422533:p.Val1394Ile	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	72	31	NM_015236	0	0	6	8	2	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.651410|1.651410	0.29336|0.29336	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T	.|0.70516	.|-0.47;-0.47;-0.48;-0.48;-0.49;-0.49;-0.48	5.39|5.39	5.39|5.39	0.77823|0.77823	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.135868	.|0.49305	.|D	.|0.000157	T|T	0.59307|0.59307	0.2184|0.2184	N|N	0.22421|0.22421	0.69|0.69	0.36608|0.36608	D|D	0.875062|0.875062	.|P;P	.|0.37573	.|0.468;0.6	.|B;B	.|0.39299	.|0.206;0.296	T|T	0.61033|0.61033	-0.7144|-0.7144	5|10	.|0.13853	.|T	.|0.58	.|.	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1394;1372	.|E9PE04;Q9HAR2	.|.;LPHN3_HUMAN	Y|I	842|1394;1394;1372;1453;1437;1505;1496;1428	.|ENSP00000422533:V1394I;ENSP00000439831:V1394I;ENSP00000421372:V1453I;ENSP00000421627:V1437I;ENSP00000420931:V1505I;ENSP00000425884:V1496I;ENSP00000424258:V1428I	.|ENSP00000295349:V1372I	C|V	+|+	2|1	0|0	LPHN3|LPHN3	62618991|62618991	0.980000|0.980000	0.34600|0.34600	0.616000|0.616000	0.29078|0.29078	0.987000|0.987000	0.75469|0.75469	4.485000|4.485000	0.60279|0.60279	2.535000|2.535000	0.85469|0.85469	0.591000|0.591000	0.81541|0.81541	TGT|GTT	.		0.537	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62936396	G	A	62936396	3	1	28	1	0	0	0	0	1	0	0	0	8952	1377	48	3	4270	3	LPHN3	4	62936396	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	5755441	62936396	128217880	60	5014											
ENAM	10117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	71510144	71510144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaacattctggaacaaGtttttgaagacaaccagctc	8	9	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:71510144G>T	ENST00000396073.3	+	9	3282	c.3001G>T	c.(3001-3003)Gtt>Ttt	p.V1001F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1001					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTGGAACAAGTTTTTGAAGA	0.428																																					p.V1001F		.											.	ENAM-93	0			c.G3001T						.						111	102	105					4																	71510144		2203	4300	6503	SO:0001583	missense	10117	exon9			GAACAAGTTTTTG	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.3001G>T	4.37:g.71510144G>T	ENSP00000379383:p.Val1001Phe	Somatic	296	0		WXS	Illumina GAIIx	Phase_I	320	78	NM_031889	0	0	0	0	0	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861949	0.32884	.	.	ENSG00000132464	ENST00000396073	T	0.33216	1.42	5.97	2.15	0.27550	.	0.718117	0.13003	N	0.421508	T	0.12390	0.0301	N	0.02539	-0.55	0.20975	N	0.999811	B	0.28512	0.214	B	0.34536	0.185	T	0.27706	-1.0066	10	0.34782	T	0.22	-0.5003	3.8713	0.09038	0.6692:0.0:0.1696:0.1612	.	1001	Q9NRM1	ENAM_HUMAN	F	1001	ENSP00000379383:V1001F	ENSP00000379383:V1001F	V	+	1	0	ENAM	71729008	0.630000	0.27155	0.978000	0.43139	0.978000	0.69477	0.951000	0.29135	0.149000	0.19098	-0.238000	0.12139	GTT	.		0.428	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71510144	G	T	71510144	3	4	28	1	0	0	0	0	1	0	0	0	5128	1029	36	3	3031	3	ENAM	4	71510144	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	8573748	71510144	119644132	61	5015											
WDFY3	23001	broad.mit.edu	37	chr4	85623617	85623617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaataccaggcctcgcGcacactgtgaaacatccggt	10	14	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:85623617G>A	ENST00000295888.4	-	56	8892	c.8485C>T	c.(8485-8487)Cgc>Tgc	p.R2829C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2812C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2829	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				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)		CAGGCCTCGCGCACACTGTGA	0.468																																					p.R2829C		.											.	WDFY3-93	0			c.C8485T						.						60	64	62					4																	85623617		2203	4300	6503	SO:0001583	missense	23001	exon56			CCTCGCGCACACT	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.8485C>T	4.37:g.85623617G>A	ENSP00000295888:p.Arg2829Cys	Somatic	126	1		WXS	Illumina GAIIx	Phase_I	135	5	NM_014991	0	0	3	3	0	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906106	0.92107	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64438	-0.1;-0.1;-0.1	5.86	5.86	0.93980	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.78155	0.4239	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.77169	-0.2686	10	0.54805	T	0.06	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	2829	Q8IZQ1	WDFY3_HUMAN	C	2812;2829;432	ENSP00000318466:R2812C;ENSP00000295888:R2829C;ENSP00000424987:R432C	ENSP00000295888:R2829C	R	-	1	0	WDFY3	85842641	1.000000	0.71417	0.988000	0.46212	0.807000	0.45602	4.703000	0.61824	2.771000	0.95319	0.650000	0.86243	CGC	.		0.468	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85623617	G	A	85623617	3	1	28	1	0	0	0	0	1	0	0	0	17319	1087	38	1	2147	1	WDFY3	4	85623617	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	14113473	85623617	105530659	62	5016											
DSPP	1834	bcgsc.ca	37	chr4	88537270	88537270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgaaagcagcgaCagcagtgacagcagcgacag	14	10	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:88537270C>T	ENST00000282478.7	+	4	3489	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	DSPP_ENST00000399271.1_Silent_p.D1152D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1152	Asp/Ser-rich.			D -> N (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)		aaagcagcgacagcagtgaca	0.557																																					p.D1152D		.											.	DSPP-90	0			c.C3456T						.						47	61	56					4																	88537270		1584	2865	4449	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGT	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.3456C>T	4.37:g.88537270C>T		Somatic	610	3		WXS	Illumina GAIIx	Phase_I	591	40	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537270	C	T	88537270	2	4	28	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537270	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2913653	88537270	102617006	63	5017			1	23		4	3	187	N	C	8.52474e-07
DSPP	1834	ucsc.edu	37	chr4	88537435	88537435	+	Silent	SNP	C	C	T													agcagcgatagtagtgatagCagtgacagcagtgacagcag							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:88537435C>T	ENST00000282478.7	+	4	3654	c.3621C>T	c.(3619-3621)agC>agT	p.S1207S	DSPP_ENST00000399271.1_Silent_p.S1207S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1207	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)		gtagtgatagcagtgacagca	0.557																																					p.S1207S		.											.	DSPP-90	0			c.C3621T						.																																			SO:0001819	synonymous_variant	1834	exon5			TGATAGCAGTGAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3621C>T	4.37:g.88537435C>T		Somatic	643	4		WXS	Illumina GAIIx	Phase_I	621	86	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537435	C	T	88537435	2	4	28	1	0	0	0	0	0	0	0	1	4796	709	25	3		3	DSPP	4	88537435	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	165	88537435	102616841	64	5018	37	2	1	23		4	3	187	N	C	8.52474e-07
DSPP	1834	ucsc.edu	37	chr4	88537441	88537441	+	Silent	SNP	C	C	T													gatagtagtgatagcagtgaCagcagtgacagcagcgacag							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:88537441C>T	ENST00000282478.7	+	4	3660	c.3627C>T	c.(3625-3627)gaC>gaT	p.D1209D	DSPP_ENST00000399271.1_Silent_p.D1209D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1209	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)		atagcagtgacagcagtgaca	0.552																																					p.D1209D		.											.	DSPP-90	0			c.C3627T						.						45	65	58					4																	88537441		1601	2919	4520	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3627C>T	4.37:g.88537441C>T		Somatic	651	4		WXS	Illumina GAIIx	Phase_I	624	139	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.552	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537441	C	T	88537441	2	4	28	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537441	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	6	88537441	102616835	65	5019	37	2	1	23		4	3	187	N	C	8.52474e-07
DSPP	1834	ucsc.edu	37	chr4	88537456	88537456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagcagtgacagcagCgacagcagtgacagcagcga	14	10	0	3	rs111240022		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:88537456C>T	ENST00000282478.7	+	4	3675	c.3642C>T	c.(3640-3642)agC>agT	p.S1214S	DSPP_ENST00000399271.1_Silent_p.S1214S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1214	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)		gtgacagcagcgacagcagtg	0.562																																					p.S1214S		.											.	DSPP-90	0			c.C3642T						.	C		91,3101		0,91,1505	39	60	53		3642	-6.5	0	4	dbSNP_132	53	128,5684		0,128,2778	no	coding-synonymous	DSPP	NM_014208.3		0,219,4283	TT,TC,CC		2.2023,2.8509,2.4323		1214/1302	88537456	219,8785	1596	2906	4502	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.3642C>T	4.37:g.88537456C>T		Somatic	639	4		WXS	Illumina GAIIx	Phase_I	655	311	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537456	C	T	88537456	2	4	28	1	0	0	0	0	0	0	0	1	4796	767	27	1		1	DSPP	4	88537456	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	15	88537456	102616820	66	5020			1	23		4	3	187	N	C	8.52474e-07
NDST4	64579	ucsc.edu	37	chr4	115769495	115769495	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaataaagtgcagttgttcCtgttacaaaaaaagaaagta	7	4	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:115769495C>A	ENST00000264363.2	-	9	2495		c.e9-1			NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 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)		GCAGTTGTTCCTGTTACAAAA	0.284																																					.		.											.	NDST4-94	0			c.1817-1G>T						.						72	75	74					4																	115769495		2202	4300	6502	SO:0001630	splice_region_variant	64579	exon10			TTGTTCCTGTTAC	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.1817-1G>T	4.37:g.115769495C>A		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	30	4	NM_022569	0	0	0	0	0	Q2KHM8	Splice_Site	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.378926	0.61735	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5612	0.95373	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDST4	115988944	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	7.434000	0.80377	2.687000	0.91594	0.655000	0.94253	.	.		0.284	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	Intron	A	115769495	C	A	115769495	5	1	28	1	0	0	0	0	0	0	1	0	10297	695	24	3	826	3	NDST4	4	115769495	Splice_Site	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	27232039	115769495	75384781	67	5021											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	125592202	125592202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgccatctttatcacAatgatctacttcagcacctc	4	13	5	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr4:125592202A>G	ENST00000504087.1	-	4	3267	c.2230T>C	c.(2230-2232)Tgt>Cgt	p.C744R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.C565R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	744										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCTTTATCACAATGATCTACT	0.473																																					p.C744R		.											.	ANKRD50-90	0			c.T2230C						.						130	113	119					4																	125592202		2203	4300	6503	SO:0001583	missense	57182	exon4			TATCACAATGATC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2230T>C	4.37:g.125592202A>G	ENSP00000425658:p.Cys744Arg	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	98	21	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	2.509	-0.313332	0.05422	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.14640	2.49;2.49	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.070624	0.85682	D	0.000000	T	0.05960	0.0155	N	0.01742	-0.745	0.80722	D	1	B	0.13594	0.008	B	0.18871	0.023	T	0.40534	-0.9558	10	0.13853	T	0.58	.	15.6174	0.76778	1.0:0.0:0.0:0.0	.	744	Q9ULJ7	ANR50_HUMAN	R	744;565	ENSP00000425658:C744R;ENSP00000425355:C565R	ENSP00000425658:C744R	C	-	1	0	ANKRD50	125811652	1.000000	0.71417	0.971000	0.41717	0.223000	0.24884	8.571000	0.90752	2.275000	0.75901	0.528000	0.53228	TGT	.		0.473	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125592202	A	G	125592202	3	3	28	1	0	0	0	0	1	0	0	0	677	130	5	4	2063	4	ANKRD50	4	125592202	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	9822707	125592202	65562074	68	5022											
CTNND2	1501	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	11082866	11082866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcgcagtggccaccgcGcacaccacacggtcattgtc	11	17	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:11082866G>C	ENST00000304623.8	-	16	2919	c.2730C>G	c.(2728-2730)tgC>tgG	p.C910W	CTNND2_ENST00000511377.1_Missense_Mutation_p.C819W|CTNND2_ENST00000458100.2_Missense_Mutation_p.C477W|CTNND2_ENST00000359640.2_Missense_Mutation_p.C852W|CTNND2_ENST00000503622.1_Missense_Mutation_p.C573W|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					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.C910C(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						TGGCCACCGCGCACACCACAC	0.527																																					p.C910W		.											.	CTNND2-293	1	Substitution - coding silent(1)	large_intestine(1)	c.C2730G						.						126	110	116					5																	11082866		2203	4300	6503	SO:0001583	missense	1501	exon16			CACCGCGCACACC	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.2730C>G	5.37:g.11082866G>C	ENSP00000307134:p.Cys910Trp	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	135	38	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.28|17.28	3.349833|3.349833	0.61183|0.61183	.|.	.|.	ENSG00000169862|ENSG00000169862	ENST00000538638|ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.|T;T;T;T;T	.|0.69306	.|-0.39;-0.39;-0.39;-0.39;-0.39	5.04|5.04	-4.39|-4.39	0.03611|0.03611	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75324	.|0.3834	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	.|T	.|0.76575	.|-0.2909	.|10	.|0.62326	.|D	.|0.03	.|-15.6584	15.4712|15.4712	0.75441|0.75441	0.8735:0.0:0.1265:0.0|0.8735:0.0:0.1265:0.0	.|.	.|573;502;910	.|B4DRK2;B4DG58;Q9UQB3	.|.;.;CTND2_HUMAN	.|W	-1|910;852;819;477;573	.|ENSP00000307134:C910W;ENSP00000352661:C852W;ENSP00000426510:C819W;ENSP00000391155:C477W;ENSP00000426887:C573W	.|ENSP00000307134:C910W	.|C	-|-	.|3	.|2	CTNND2|CTNND2	11135866|11135866	0.003000|0.003000	0.15002|0.15002	0.793000|0.793000	0.32043|0.32043	0.958000|0.958000	0.62258|0.62258	-0.963000|-0.963000	0.03837|0.03837	-0.659000|-0.659000	0.05359|0.05359	-0.253000|-0.253000	0.11424|0.11424	.|TGC	.		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		C	11082866	G	C	11082866	3	2	28	1	0	0	0	0	1	0	0	0	4029	1079	38	2	975	2	CTNND2	5	11082866	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		11082866	169832394	69	5023											
RNASEN	29102	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	31526222	31526222	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcggtggcgagatggtgttCtccctcggtcataatcagat	13	9	3	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:31526222C>A	ENST00000511367.2	-	4	1062	c.818G>T	c.(817-819)aGa>aTa	p.R273I	DROSHA_ENST00000442743.1_Missense_Mutation_p.R273I|DROSHA_ENST00000344624.3_Missense_Mutation_p.R273I|DROSHA_ENST00000513349.1_Missense_Mutation_p.R273I|DROSHA_ENST00000504361.1_5'Flank	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	273	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGATGGTGTTCTCCCTCGGTC	0.572																																					p.R273I		.											.	DROSHA-227	0			c.G818T						.						102	104	103					5																	31526222		2097	4215	6312	SO:0001583	missense	29102	exon4			GGTGTTCTCCCTC	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.818G>T	5.37:g.31526222C>A	ENSP00000425979:p.Arg273Ile	Somatic	136	1		WXS	Illumina GAIIx	Phase_I	205	62	NM_013235	0	0	0	0	0	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.714368|2.714368	0.48622|0.48622	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	.|T;T;T;T;T	.|0.55234	.|0.53;0.53;0.53;0.53;0.98	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63486|0.63486	0.2515|0.2515	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.99;0.99	.|D;D;D	.|0.78314	.|0.991;0.944;0.944	T|T	0.67677|0.67677	-0.5609|-0.5609	5|10	.|0.66056	.|D	.|0.02	-10.6161|-10.6161	17.5219|17.5219	0.87790|0.87790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|273;273;273	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	D|I	102|273;273;273;273;266;266;71	.|ENSP00000425979:R273I;ENSP00000339845:R273I;ENSP00000409335:R273I;ENSP00000424161:R273I;ENSP00000428782:R71I	.|ENSP00000265075:R266I	E|R	-|-	3|2	2|0	DROSHA|DROSHA	31561979|31561979	0.986000|0.986000	0.35501|0.35501	0.184000|0.184000	0.23157|0.23157	0.415000|0.415000	0.31203|0.31203	6.260000|6.260000	0.72502|0.72502	2.348000|2.348000	0.79779|0.79779	0.650000|0.650000	0.86243|0.86243	GAG|AGA	.		0.572	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31526222	C	A	31526222	3	1	28	1	0	0	0	0	1	0	0	0	13462	913	32	3	3434	3	RNASEN	5	31526222	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	20443356	31526222	149389038	70	5024											
ZNF131	7690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	43161463	43161463	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgagtcattgccatctgcaGaatcagaacctgttgaaatt	8	9	3	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:43161463G>C	ENST00000399534.1	+	5	528	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.E162Q|ZNF131_ENST00000306938.4_Missense_Mutation_p.E162Q|ZNF131_ENST00000509634.1_Missense_Mutation_p.E162Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E162Q			P52739	ZN131_HUMAN	zinc finger protein 131	162					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCCATCTGCAGAATCAGAACC	0.428																																					p.E162Q		.											.	ZNF131-90	0			c.G484C						.						112	102	105					5																	43161463		1898	4126	6024	SO:0001583	missense	7690	exon5			TCTGCAGAATCAG	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.484G>C	5.37:g.43161463G>C	ENSP00000382450:p.Glu162Gln	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	243	67	NM_003432	0	0	3	3	0	B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.616080	0.87359	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.18	5.18	0.71444	.	0.049866	0.85682	D	0.000000	T	0.75488	0.3856	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.61697	0.976;0.99	P;P	0.59487	0.703;0.858	T	0.73257	-0.4040	10	0.26408	T	0.33	-14.8564	18.6914	0.91585	0.0:0.0:1.0:0.0	.	162;162	P52739;P52739-2	ZN131_HUMAN;.	Q	162	ENSP00000422079:E162Q;ENSP00000426504:E162Q;ENSP00000305804:E162Q;ENSP00000382450:E162Q;ENSP00000423945:E162Q;ENSP00000421246:E162Q	ENSP00000305804:E162Q	E	+	1	0	ZNF131	43197220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.432000	0.80349	2.429000	0.82318	0.650000	0.86243	GAA	.		0.428	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		C	43161463	G	C	43161463	3	2	28	1	0	0	0	0	1	0	0	0	17769	943	33	3	498	3	ZNF131	5	43161463	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	11635241	43161463	137753797	71	5025											
ISL1	3670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	50680462	50680462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccggatttggaatggcAtgcggcatgtttgaaatgtg	13	6	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:50680462A>C	ENST00000230658.7	+	2	701	c.116A>C	c.(115-117)cAt>cCt	p.H39P	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Missense_Mutation_p.H39P	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	39	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TTGGAATGGCATGCGGCATGT	0.408																																					p.H39P		.											.	ISL1-515	0			c.A116C						.						192	181	185					5																	50680462		1888	4119	6007	SO:0001583	missense	3670	exon2			AATGGCATGCGGC	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.116A>C	5.37:g.50680462A>C	ENSP00000230658:p.His39Pro	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	259	43	NM_002202	0	0	27	43	16	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.906574	0.72868	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.96365	-3.99;-3.99	6.16	6.16	0.99307	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	39	P61371	ISL1_HUMAN	P	39	ENSP00000230658:H39P;ENSP00000422676:H39P	ENSP00000230658:H39P	H	+	2	0	ISL1	50716219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.305000	0.96197	2.367000	0.80283	0.528000	0.53228	CAT	.		0.408	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		C	50680462	A	C	50680462	3	2	28	1	0	0	0	0	1	0	0	0	7883	217	8	5	122	5	ISL1	5	50680462	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	7518999	50680462	130234798	72	5026											
ANKRD34B	340120	ucsc.edu	37	chr5	79854554	79854554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctcctgaacctcgccTttctaaaactgcatgatttc	6	12	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:79854554T>A	ENST00000338682.3	-	5	1957	c.1285A>T	c.(1285-1287)Agg>Tgg	p.R429W		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	429				R -> G (in Ref. 1; CAH18341). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GAACCTCGCCTTTCTAAAACT	0.473																																					p.R429W		.											.	ANKRD34B-69	0			c.A1285T						.						108	114	112					5																	79854554		2203	4300	6503	SO:0001583	missense	340120	exon5			CTCGCCTTTCTAA		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1285A>T	5.37:g.79854554T>A	ENSP00000339802:p.Arg429Trp	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	29	4	NM_001004441	0	0	0	0	0	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404536	0.42613	.	.	ENSG00000189127	ENST00000338682	T	0.29917	1.55	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.54711	0.1875	M	0.78456	2.415	0.51233	D	0.999915	D	0.89917	1.0	D	0.81914	0.995	T	0.59721	-0.7401	10	0.87932	D	0	-21.9539	10.5382	0.45018	0.0:0.0752:0.0:0.9248	.	429	A5PLL1	AN34B_HUMAN	W	429	ENSP00000339802:R429W	ENSP00000339802:R429W	R	-	1	2	ANKRD34B	79890310	0.999000	0.42202	1.000000	0.80357	0.173000	0.22820	0.456000	0.21859	2.317000	0.78254	0.460000	0.39030	AGG	.		0.473	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		A	79854554	T	A	79854554	3	1	28	1	0	0	0	0	1	0	0	0	663	1608	56	5	263	5	ANKRD34B	5	79854554	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	29174092	79854554	101060706	73	5027											
PCDHA7	56141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140215777	140215777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacgctgactcaggctaCaacgcgtggctttcgtatga	12	10	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:140215777C>T	ENST00000525929.1	+	1	1809	c.1809C>T	c.(1807-1809)taC>taT	p.Y603Y	PCDHA7_ENST00000378125.3_Silent_p.Y603Y|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	603	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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGGCTACAACGCGTGGC	0.647																																					p.Y603Y	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.C1809T						.						143	133	136					5																	140215777		2203	4299	6502	SO:0001819	synonymous_variant	56141	exon1			AGGCTACAACGCG	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1809C>T	5.37:g.140215777C>T		Somatic	294	0		WXS	Illumina GAIIx	Phase_I	561	140	NM_031852	0	0	0	0	0	O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																			.		0.647	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		T	140215777	C	T	140215777	2	4	28	1	0	0	0	0	0	0	0	1	11568	489	17	3		3	PCDHA7	5	140215777	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	60361223	140215777	40699483	74	5028											
PCDHA1	9752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140389355	140389355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcccaggatctcctgcaAtcatctccatccggcaggag	8	14	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:140389355A>G	ENST00000532602.1	+	4	3719	c.2686A>G	c.(2686-2688)Atc>Gtc	p.I896V	PCDHAC1_ENST00000253807.2_Missense_Mutation_p.I909V|PCDHA7_ENST00000525929.1_Missense_Mutation_p.I883V|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Missense_Mutation_p.I894V|PCDHA1_ENST00000504120.2_Missense_Mutation_p.I896V|PCDHA13_ENST00000289272.2_Missense_Mutation_p.I896V|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.I631V|PCDHA11_ENST00000398640.2_Missense_Mutation_p.I895V|PCDHA8_ENST00000531613.1_Missense_Mutation_p.I896V|PCDHA4_ENST00000530339.1_Missense_Mutation_p.I893V|PCDHA6_ENST00000527624.1_Missense_Mutation_p.I632V|PCDHA12_ENST00000398631.2_Missense_Mutation_p.I887V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.I632V|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.I953V|PCDHA2_ENST00000526136.1_Missense_Mutation_p.I894V|PCDHA5_ENST00000529859.1_Missense_Mutation_p.I882V|PCDHA6_ENST00000529310.1_Missense_Mutation_p.I896V|PCDHA3_ENST00000522353.2_Missense_Mutation_p.I896V	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	896					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)			ATCTCCTGCAATCATCTCCAT	0.468																																					p.I953V	Melanoma(55;1800 1972 14909)	.											.	PCDHAC2-26	0			c.A2857G						.						57	58	58					5																	140389355		2203	4300	6503	SO:0001583	missense	56134	exon4			CCTGCAATCATCT	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.2686A>G	5.37:g.140389355A>G	ENSP00000436042:p.Ile896Val	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	156	42	NM_018899	0	0	0	0	0	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564866	0.65651	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000530339;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60040	0.47;0.25;0.49;0.48;0.47;0.45;0.49;0.23;0.4;0.54;0.55;0.22;0.4;0.47;0.51;0.6;0.34;0.7	5.67	5.67	0.87782	.	0.000000	0.41396	D	0.000890	T	0.73644	0.3613	M	0.61703	1.905	0.31876	N	0.619141	D;D;P;P;P;P;D;P;P;P;P;P;P;B;P;P;P;P	0.76494	0.985;0.985;0.87;0.87;0.93;0.949;0.999;0.701;0.87;0.568;0.621;0.542;0.79;0.307;0.866;0.949;0.79;0.735	D;P;P;P;P;P;D;B;P;B;B;B;B;B;P;P;B;B	0.80764	0.952;0.826;0.542;0.542;0.542;0.656;0.994;0.403;0.542;0.311;0.245;0.396;0.441;0.217;0.521;0.656;0.387;0.293	T	0.78440	-0.2203	10	0.59425	D	0.04	.	16.2045	0.82114	1.0:0.0:0.0:0.0	.	953;909;896;887;895;894;631;896;896;883;896;632;882;893;896;894;896;632	Q9Y5I4;Q9H158;Q9Y5I0;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9UN74;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;PCDA4_HUMAN;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	V	896;632;894;896;893;882;896;632;883;896;896;631;894;895;887;896;909;953	ENSP00000420840:I896V;ENSP00000378129:I632V;ENSP00000431748:I894V;ENSP00000429808:I896V;ENSP00000435300:I893V;ENSP00000436557:I882V;ENSP00000433378:I896V;ENSP00000434113:I632V;ENSP00000436426:I883V;ENSP00000434655:I896V;ENSP00000436042:I896V;ENSP00000421030:I631V;ENSP00000304234:I894V;ENSP00000381636:I895V;ENSP00000381628:I887V;ENSP00000289272:I896V;ENSP00000253807:I909V;ENSP00000289269:I953V	ENSP00000304234:I894V	I	+	1	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.890000	0.92477	2.288000	0.76882	0.533000	0.62120	ATC	.		0.468	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140389355	A	G	140389355	3	3	28	1	0	0	0	0	1	0	0	0	11558	101	4	4	2730	4	PCDHA1	5	140389355	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	173578	140389355	40525905	75	5029											
ADRA1B	147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	159344848	159344848	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggctacccttcttcatCgctctaccgcttggtaagtt	8	13	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:159344848C>T	ENST00000306675.3	+	1	1059	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	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)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCTTCTTCATCGCTCTACCGC	0.463																																					p.I312I		.											.	ADRA1B-522	0			c.C936T						.						101	97	98					5																	159344848		2174	4263	6437	SO:0001819	synonymous_variant	147	exon1			CTTCATCGCTCTA	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.936C>T	5.37:g.159344848C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	139	31	NM_000679	0	0	0	0	0	B0LPE1	Silent	SNP	ENST00000306675.3	37	CCDS4347.1																																																																																			.		0.463	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			T	159344848	C	T	159344848	2	4	28	1	0	0	0	0	0	0	0	1	335	874	31	1		1	ADRA1B	5	159344848	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	18955493	159344848	21570412	76	5030											
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	169097591	169097591	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatcaaggaagtgacagttGagaaaagaaggtatttgcca	11	5	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:169097591G>C	ENST00000256935.8	+	4	294	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	72					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)			AGTGACAGTTGAGAAAAGAAG	0.368																																					p.E72Q		.											.	DOCK2-97	0			c.G214C						.						105	100	102					5																	169097591		2203	4300	6503	SO:0001583	missense	1794	exon4			ACAGTTGAGAAAA	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.214G>C	5.37:g.169097591G>C	ENSP00000256935:p.Glu72Gln	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	97	19	NM_004946	0	0	0	0	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802323	0.50315	.	.	ENSG00000134516	ENST00000256935	T	0.42900	0.96	5.59	5.59	0.84812	.	0.175068	0.49916	D	0.000121	T	0.37073	0.0990	L	0.43646	1.37	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.08932	-1.0698	10	0.33141	T	0.24	.	15.1146	0.72392	0.0:0.141:0.859:0.0	.	72	Q92608	DOCK2_HUMAN	Q	72	ENSP00000256935:E72Q	ENSP00000256935:E72Q	E	+	1	0	DOCK2	169030169	1.000000	0.71417	0.963000	0.40424	0.942000	0.58702	5.381000	0.66208	2.627000	0.88993	0.563000	0.77884	GAG	.		0.368	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169097591	G	C	169097591	3	2	28	1	0	0	0	0	1	0	0	0	4701	1291	45	3	228	3	DOCK2	5	169097591	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	9752743	169097591	11817669	77	5031											
FLT4	2324	broad.mit.edu	37	chr5	180048764	180048764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgggttcccgtgcgcatCgtgcagcgtggacaggttga	16	10	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr5:180048764C>T	ENST00000261937.6	-	13	1876	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FLT4_ENST00000502649.1_Missense_Mutation_p.D600N|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	600	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCGCATCGTGCAGCGTG	0.657																																					p.D600N	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.G1798A						.						86	76	79					5																	180048764		2203	4300	6503	SO:0001583	missense	2324	exon13			GCGCATCGTGCAG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1798G>A	5.37:g.180048764C>T	ENSP00000261937:p.Asp600Asn	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	425	8	NM_182925	0	0	0	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815183	0.90790	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.76968	-1.06;-1.05;-1.05	4.64	4.64	0.57946	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86602	0.5972	M	0.67953	2.075	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.989;0.989;0.974	D;D;P;P	0.97110	1.0;0.93;0.898;0.806	D	0.85559	0.1226	9	0.34782	T	0.22	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	600;410;600;600	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	600;600;600;410	ENSP00000261937:D600N;ENSP00000377016:D600N;ENSP00000426057:D600N	ENSP00000261937:D600N	D	-	1	0	FLT4	179981370	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.348000	0.66004	2.300000	0.77407	0.561000	0.74099	GAT	.		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180048764	C	T	180048764	3	4	28	1	0	0	0	0	1	0	0	0	5966	884	31	1	2373	1	FLT4	5	180048764	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	10951173	180048764	866496	78	5032											
PRPF4B	8899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	4037635	4037635	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgatccccttaagaacaCgacctcgagatgatatcctc	6	12	0	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:4037635C>T	ENST00000337659.6	+	3	1343	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R401*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	415	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTTAAGAACACGACCTCGAGA	0.373																																					p.R415X		.											.	PRPF4B-1308	0			c.C1243T						.						67	62	64					6																	4037635		2203	4300	6503	SO:0001587	stop_gained	8899	exon3			AGAACACGACCTC	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1243C>T	6.37:g.4037635C>T	ENSP00000337194:p.Arg415*	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	74	26	NM_003913	0	0	0	0	0	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	39	7.355370	0.98231	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.06	3.26	0.37387	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1481	0.31124	0.2788:0.6483:0.0:0.0729	.	.	.	.	X	415;401	.	ENSP00000337194:R415X	R	+	1	2	PRPF4B	3982634	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.118000	0.41949	0.611000	0.30052	0.650000	0.86243	CGA	.		0.373	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			T	4037635	C	T	4037635	4	4	28	1	0	0	0	0	0	1	0	0	12615	528	19	1	1253	1	PRPF4B	6	4037635	Nonsense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10		4037635	167077432	79	5033											
HIST1H3E	8353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26225400	26225400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actatggcgcgtactaagcaGacggctcgtaaatccacagg	11	11	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:26225400G>C	ENST00000360408.1	+	1	18	c.18G>C	c.(16-18)caG>caC	p.Q6H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	6					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GTACTAAGCAGACGGCTCGTA	0.537																																					p.Q6H		.											.	HIST1H3E-68	0			c.G18C						.						73	75	74					6																	26225400		2203	4300	6503	SO:0001583	missense	8353	exon1			TAAGCAGACGGCT	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.18G>C	6.37:g.26225400G>C	ENSP00000353581:p.Gln6His	Somatic	300	0		WXS	Illumina GAIIx	Phase_I	310	88	NM_003532	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	3.335	-0.135846	0.06711	.	.	ENSG00000196966	ENST00000360408	T	0.46819	0.86	4.54	0.528	0.17089	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.30484	N	0.772043	.	.	.	.	.	.	T	0.22312	-1.0220	6	0.87932	D	0	.	8.1219	0.30976	0.4337:0.0:0.5663:0.0	.	.	.	.	H	6	ENSP00000353581:Q6H	ENSP00000353581:Q6H	Q	+	3	2	HIST1H3E	26333379	1.000000	0.71417	0.962000	0.40283	0.256000	0.26092	0.570000	0.23653	-0.013000	0.14199	-0.339000	0.08088	CAG	.		0.537	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		C	26225400	G	C	26225400	3	2	28	1	0	0	0	0	1	0	0	0	7186	933	33	3	20	3	HIST1H3E	6	26225400	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	22187765	26225400	144889667	80	5034											
EHMT2	10919	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31854777	31854777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcccgtgctgacctgcaGcagcacatggcagatctcca	12	15	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:31854777G>A	ENST00000375537.4	-	16	2119	c.2113C>T	c.(2113-2115)Ctg>Ttg	p.L705L	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Silent_p.L762L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.L728L|EHMT2_ENST00000375530.4_Silent_p.L671L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	705					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)	p.L705L(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGACCTGCAGCAGCACATGG	0.687																																					p.L705L		.											.	EHMT2-91	1	Substitution - coding silent(1)	lung(1)	c.C2113T						.						53	60	57					6																	31854777		1511	2709	4220	SO:0001819	synonymous_variant	10919	exon16			CCTGCAGCAGCAC	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.2113C>T	6.37:g.31854777G>A		Somatic	52	1		WXS	Illumina GAIIx	Phase_I	61	15	NM_006709	0	0	0	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154062	0.21371	.	.	ENSG00000204371	ENST00000436026	.	.	.	5.39	4.52	0.55395	.	.	.	.	.	T	0.49236	0.1545	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	.	10.2273	0.43233	0.0:0.1478:0.6988:0.1533	.	.	.	.	V	22	.	.	A	-	2	0	EHMT2	31962756	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	1.570000	0.36439	1.238000	0.43771	0.655000	0.94253	GCT	.		0.687	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31854777	G	A	31854777	2	1	28	1	0	0	0	0	0	0	0	1	4998	962	34	3		3	EHMT2	6	31854777	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	5629377	31854777	139260290	81	5035											
DAAM2	23500	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	39867948	39867948	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccagcttcagcttctcCgagctggaggaccagctaaa	11	12	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:39867948C>A	ENST00000398904.2	+	23	2957	c.2775C>A	c.(2773-2775)tcC>tcA	p.S925S	DAAM2_ENST00000538976.1_Silent_p.S924S|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S925S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	925	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCAGCTTCTCCGAGCTGGAGG	0.572																																					p.S925S		.											.	DAAM2-228	0			c.C2775A						.						32	35	34					6																	39867948		2019	4159	6178	SO:0001819	synonymous_variant	23500	exon23			CTTCTCCGAGCTG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2775C>A	6.37:g.39867948C>A		Somatic	92	1		WXS	Illumina GAIIx	Phase_I	108	33	NM_001201427	0	0	6	12	6	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	CCDS56426.1																																																																																			.		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39867948	C	A	39867948	2	1	28	1	0	0	0	0	0	0	0	1	4225	639	23	2		2	DAAM2	6	39867948	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	8013171	39867948	131247119	82	5036											
CUL7	9820	broad.mit.edu	37	chr6	43020160	43020160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacactcctccagctgccGaagggctctctgaatgaggg	11	14	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:43020160G>A	ENST00000265348.3	-	2	452	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	CUL7_ENST00000535468.1_Missense_Mutation_p.R175W			Q14999	CUL7_HUMAN	cullin 7	123					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGCTGCCGAAGGGCTCTC	0.607																																					p.R175W		.											.	CUL7-229	0			c.C523T						.						84	70	74					6																	43020160		2203	4300	6503	SO:0001583	missense	9820	exon2			GCTGCCGAAGGGC	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.367C>T	6.37:g.43020160G>A	ENSP00000265348:p.Arg123Trp	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	110	4	NM_001168370	0	0	5	5	0	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429715	0.62844	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.18	5.51	4.62	0.57501	.	0.152133	0.46758	D	0.000273	T	0.56396	0.1982	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.966;1.0	B;D	0.72982	0.378;0.979	T	0.64368	-0.6424	10	0.87932	D	0	-25.8087	7.8041	0.29191	0.0741:0.0:0.6357:0.2902	.	175;123	F5H0L1;Q14999	.;CUL7_HUMAN	W	123;175	ENSP00000265348:R123W;ENSP00000438788:R175W	ENSP00000265348:R123W	R	-	1	2	CUL7	43128138	0.998000	0.40836	0.979000	0.43373	0.989000	0.77384	2.673000	0.46858	1.263000	0.44181	0.561000	0.74099	CGG	.		0.607	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		A	43020160	G	A	43020160	3	1	28	1	0	0	0	0	1	0	0	0	4069	1057	37	1	4925	1	CUL7	6	43020160	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	3152212	43020160	128094907	83	5037											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51774212	51774212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgaacgatcactctggctCccatatccctggatcctagc	7	15	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:51774212C>A	ENST00000371117.3	-	40	6826	c.6551G>T	c.(6550-6552)gGa>gTa	p.G2184V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2184V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2184					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)					CACTCTGGCTCCCATATCCCT	0.478																																					p.G2184V		.											.	PKHD1-603	0			c.G6551T						.						208	198	201					6																	51774212		2203	4300	6503	SO:0001583	missense	5314	exon40			CTGGCTCCCATAT	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.6551G>T	6.37:g.51774212C>A	ENSP00000360158:p.Gly2184Val	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	177	52	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804513	0.70682	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.93076	-3.04;-3.16	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	D	0.96867	0.8977	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.999	D	0.97334	0.9952	10	0.87932	D	0	.	16.7773	0.85555	0.0:1.0:0.0:0.0	.	2184;2184;2184	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2184	ENSP00000360158:G2184V;ENSP00000341097:G2184V	ENSP00000341097:G2184V	G	-	2	0	PKHD1	51882171	0.998000	0.40836	1.000000	0.80357	0.712000	0.41017	4.319000	0.59197	2.624000	0.88883	0.563000	0.77884	GGA	.		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51774212	C	A	51774212	3	1	28	1	0	0	0	0	1	0	0	0	12010	855	30	3	5824	3	PKHD1	6	51774212	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	8754052	51774212	119340855	84	5038											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56336987	56336987	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatttgtgtctgtgacccaGagggatacaagcttgatgct	11	8	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:56336987G>A	ENST00000361203.3	-	89	21075	c.21068C>T	c.(21067-21069)tCt>tTt	p.S7023F	DST_ENST00000370754.5_Missense_Mutation_p.S7312F|DST_ENST00000370788.2_Missense_Mutation_p.S4937F|DST_ENST00000244364.6_Missense_Mutation_p.S4720F|DST_ENST00000446842.2_Missense_Mutation_p.S6808F|DST_ENST00000370769.4_Missense_Mutation_p.S7134F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S5046F			Q03001	DYST_HUMAN	dystonin	7132					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)			CTGTGACCCAGAGGGATACAA	0.463																																					p.S4720F		.											.	DST-523	0			c.C14159T						.						142	119	126					6																	56336987		1889	4129	6018	SO:0001583	missense	667	exon75			GACCCAGAGGGAT	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.21068C>T	6.37:g.56336987G>A	ENSP00000354508:p.Ser7023Phe	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	182	56	NM_015548	0	0	16	20	4	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	22.3	4.276346	0.80580	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000523943	T;T;T;T;T;T;T	0.65732	0.99;-0.17;-0.17;-0.05;0.78;-0.06;-0.13	6.17	6.17	0.99709	.	0.000000	0.53938	D	0.000056	T	0.76506	0.3997	M	0.66939	2.045	0.35124	D	0.767359	D;D;D;D;P	0.76494	0.976;0.998;0.998;0.999;0.886	P;D;D;D;P	0.83275	0.656;0.979;0.979;0.996;0.725	T	0.74811	-0.3538	9	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5046;7134;7312;7132;4720	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	4720;7312;7134;5046;6808;4937;7023;51	ENSP00000244364:S4720F;ENSP00000359790:S7312F;ENSP00000359805:S7134F;ENSP00000400883:S5046F;ENSP00000393645:S6808F;ENSP00000359824:S4937F;ENSP00000354508:S7023F	ENSP00000244364:S4720F	S	-	2	0	DST	56444946	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	TCT	.		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56336987	G	A	56336987	3	1	28	1	0	0	0	0	1	0	0	0	4797	942	33	3	1396	3	DST	6	56336987	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4562775	56336987	114778080	85	5039											
SYNCRIP	10492	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	86324650	86324650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgtacccatcagcttTgcgctttcctcctacatttc	6	14	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:86324650T>C	ENST00000369622.3	-	11	2196	c.1696A>G	c.(1696-1698)Aaa>Gaa	p.K566E	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	566					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)		CCATCAGCTTTGCGCTTTCCT	0.597																																					p.K566E		.											.	SYNCRIP-92	0			c.A1696G						.						151	149	150					6																	86324650		2203	4300	6503	SO:0001583	missense	10492	exon11			CAGCTTTGCGCTT	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.1696A>G	6.37:g.86324650T>C	ENSP00000358635:p.Lys566Glu	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	80	22	NM_006372	0	0	30	53	23	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802843	0.50315	.	.	ENSG00000135316	ENST00000369622	T	0.29655	1.56	5.19	5.19	0.71726	.	0.542019	0.20885	N	0.083923	T	0.44746	0.1308	M	0.68593	2.085	0.58432	D	0.999999	P;P	0.49696	0.88;0.927	P;D	0.67725	0.899;0.953	T	0.44375	-0.9332	10	0.62326	D	0.03	.	15.0433	0.71807	0.0:0.0:0.0:1.0	.	566;531	O60506;O60506-2	HNRPQ_HUMAN;.	E	566	ENSP00000358635:K566E	ENSP00000358635:K566E	K	-	1	0	SYNCRIP	86381369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.039000	0.88947	1.958000	0.56883	0.460000	0.39030	AAA	.		0.597	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		C	86324650	T	C	86324650	3	2	28	1	0	0	0	0	1	0	0	0	15491	1821	63	4	225	4	SYNCRIP	6	86324650	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	29987663	86324650	84790417	86	5040											
GABRR2	2570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	89978901	89978901	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctggcgctggagaaaGctagcctctcatccttccag	11	12	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:89978901G>C	ENST00000402938.3	-	4	474	c.341C>G	c.(340-342)gCt>gGt	p.A114G	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.A139G	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	114					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCTGGAGAAAGCTAGCCTCTC	0.517																																					p.A114G		.											.	GABRR2-68	0			c.C341G						.						135	129	131					6																	89978901		2203	4300	6503	SO:0001583	missense	2570	exon4			GAGAAAGCTAGCC		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.341C>G	6.37:g.89978901G>C	ENSP00000386029:p.Ala114Gly	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	154	41	NM_002043	0	0	1	1	0	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562249	0.65538	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.7	4.83	0.62350	Neurotransmitter-gated ion-channel ligand-binding (3);	0.163918	0.56097	D	0.000028	T	0.51601	0.1684	M	0.67625	2.065	0.38893	D	0.957157	B	0.25850	0.136	B	0.36092	0.217	T	0.53961	-0.8364	8	.	.	.	.	14.9503	0.71067	0.0685:0.0:0.9315:0.0	.	139	P28476	GBRR2_HUMAN	G	139	.	.	A	-	2	0	GABRR2	90035620	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	6.653000	0.74382	1.411000	0.46957	0.655000	0.94253	GCT	.		0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			C	89978901	G	C	89978901	3	2	28	1	0	0	0	0	1	0	0	0	6201	971	34	3	1080	3	GABRR2	6	89978901	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	3654251	89978901	81136166	87	5041											
RNF217	154214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	125404012	125404012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttttcttatccctaggtTtatttgtatttcctatctat	3	7	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:125404012T>G	ENST00000521654.2	+	6	1558	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	RNF217_ENST00000368414.2_Missense_Mutation_p.L82V|RNF217_ENST00000560949.1_Missense_Mutation_p.L285V|RNF217_ENST00000359704.2_Missense_Mutation_p.F266C|RNF217_ENST00000275184.6_Missense_Mutation_p.L164V			Q8TC41	RN217_HUMAN	ring finger protein 217	520					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATCCCTAGGTTTATTTGTATT	0.333																																					p.F266C		.											.	RNF217-68	0			c.T797G						.						124	115	118					6																	125404012		2203	4300	6503	SO:0001583	missense	154214	exon9			CTAGGTTTATTTG	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1558T>G	6.37:g.125404012T>G	ENSP00000428698:p.Leu520Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	71	18	NM_152553	0	0	0	0	0	H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	ENST00000521654.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.576|2.576	-0.298627|-0.298627	0.05532|0.05532	.|.	.|.	ENSG00000146373|ENSG00000146373	ENST00000359704|ENST00000521654;ENST00000368414;ENST00000275184	T|T	0.47528|0.44083	0.84|0.93	5.66|5.66	3.27|3.27	0.37495|0.37495	.|.	0.105394|.	0.42548|.	D|.	0.000690|.	T|T	0.31167|0.31167	0.0788|0.0788	L|L	0.51422|0.51422	1.61|1.61	0.39294|0.39294	D|D	0.964791|0.964791	D|P	0.57257|0.52842	0.979|0.956	P|P	0.46975|0.62184	0.533|0.899	T|T	0.33599|0.33599	-0.9862|-0.9862	10|9	0.87932|0.07030	D|T	0|0.85	.|.	9.7|9.7	0.40180|0.40180	0.0:0.1408:0.0:0.8592|0.0:0.1408:0.0:0.8592	.|.	266|285	Q8TC41|F2Z2M4	RN217_HUMAN|.	C|V	266|285;82;164	ENSP00000352734:F266C|ENSP00000275184:L164V	ENSP00000352734:F266C|ENSP00000275184:L164V	F|L	+|+	2|1	0|2	RNF217|RNF217	125445711|125445711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	2.151000|2.151000	0.42263|0.42263	0.508000|0.508000	0.28173|0.28173	-0.264000|-0.264000	0.10439|0.10439	TTT|TTA	.		0.333	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		G	125404012	T	G	125404012	3	3	28	1	0	0	0	0	1	0	0	0	13526	1841	64	5	823	5	RNF217	6	125404012	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	35425111	125404012	45711055	88	5042											
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	136582461	136582461	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccatggtctcttcttcaTcttcaacaatcccatcccct	2	16	5	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:136582461T>A	ENST00000531224.1	-	12	2951	c.2699A>T	c.(2698-2700)gAt>gTt	p.D900V	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D849V|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D898V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D727V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D851V|BCLAF1_ENST00000031135.9_Missense_Mutation_p.D118V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D849V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	900					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)		CTCTTCTTCATCTTCAACAAT	0.378																																					p.D900V	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.A2699T						.						246	247	247					6																	136582461		2203	4300	6503	SO:0001583	missense	9774	exon12			TCTTCATCTTCAA	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.2699A>T	6.37:g.136582461T>A	ENSP00000435210:p.Asp900Val	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	125	15	NM_014739	0	0	40	40	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.03|15.03	2.711845|2.711845	0.48517|0.48517	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.56611|.	4.32;4.32;4.32;2.02;4.32;0.45;4.32|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.225469|.	0.33670|.	N|.	0.004661|.	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;D;P;P;P|.	0.76494|.	0.933;0.999;0.933;0.933;0.933|.	P;D;P;P;P|.	0.73708|.	0.732;0.981;0.732;0.732;0.623|.	T|T	0.51403|0.51403	-0.8710|-0.8710	10|5	0.72032|.	D|.	0.01|.	-3.3306|-3.3306	15.604|15.604	0.76649|0.76649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	898;179;849;900;727|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	V|S	900;849;851;727;898;118;849|166	ENSP00000435210:D900V;ENSP00000229446:D849V;ENSP00000435441:D851V;ENSP00000436501:D727V;ENSP00000434826:D898V;ENSP00000031135:D118V;ENSP00000376159:D849V|.	ENSP00000031135:D118V|.	D|R	-|-	2|3	0|2	BCLAF1|BCLAF1	136624154|136624154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.548000|6.548000	0.73896|0.73896	2.086000|2.086000	0.62901|0.62901	0.533000|0.533000	0.62120|0.62120	GAT|AGA	.		0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136582461	T	A	136582461	3	1	28	1	0	0	0	0	1	0	0	0	1384	1435	50	5	71	5	BCLAF1	6	136582461	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	11178449	136582461	34532606	89	5043											
MTHFD1L	25902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	151281517	151281517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggtggtggccagtgAcaaaagcgggcagcctgtga	17	7	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:151281517A>T	ENST00000367321.3	+	18	2184	c.1910A>T	c.(1909-1911)gAc>gTc	p.D637V		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	637	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTGGCCAGTGACAAAAGCGGG	0.567																																					p.D638V		.											.	MTHFD1L-292	0			c.A1913T						.						85	66	72					6																	151281517		2203	4300	6503	SO:0001583	missense	25902	exon18			CCAGTGACAAAAG	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1910A>T	6.37:g.151281517A>T	ENSP00000356290:p.Asp637Val	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	226	66	NM_001242767	0	0	3	4	1	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591133	0.66219	.	.	ENSG00000120254	ENST00000367321	T	0.24151	1.87	5.81	4.66	0.58398	.	0.133459	0.64402	D	0.000002	T	0.48390	0.1497	M	0.94101	3.495	0.80722	D	1	D;D;D	0.67145	0.996;0.958;0.995	D;D;D	0.69142	0.928;0.936;0.962	T	0.61734	-0.7002	10	0.72032	D	0.01	.	10.8344	0.46679	0.925:0.0:0.0749:0.0	.	638;392;637	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	V	637	ENSP00000356290:D637V	ENSP00000356290:D637V	D	+	2	0	MTHFD1L	151323210	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	3.032000	0.49736	1.041000	0.40125	0.377000	0.23210	GAC	.		0.567	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		T	151281517	A	T	151281517	3	4	28	1	0	0	0	0	1	0	0	0	9966	275	10	5	1980	5	MTHFD1L	6	151281517	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	14699056	151281517	19833550	90	5044											
RBM16	22828	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	155126521	155126522	+	Frame_Shift_Del	DEL	TG	TG	-													agttctcacgtttcagaatcTgtgaacaattccatttttca							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:155126521_155126522delTG	ENST00000367178.3	+	9	1458_1459	c.882_883delTG	c.(880-885)tctgtgfs	p.V295fs	SCAF8_ENST00000417268.1_Frame_Shift_Del_p.V295fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.V361fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	295	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTCAGAATCTGTGAACAATTC	0.356																																					p.294_295del		.											.	SCAF8-91	0			c.882_883del						.																																			SO:0001589	frameshift_variant	22828	exon9			AGAATCTGTGAAC	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.882_883delTG	6.37:g.155126523_155126524delTG	ENSP00000356146:p.Val295fs	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	91	25	NM_014892	0	0	0	0	0	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Del	DEL	ENST00000367178.3	37	CCDS5247.1																																																																																			.		0.356	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		-	155126522	TG	-	155126521	7	5	28	1	0	1	0	1	0	0	0	0	13163	1567	55	0	916	0	RBM16	6	155126521	Frame_Shift_Del	DEL	TG	TCGA-OR-A5K5-01A-11D-A29I-10	3845004	155126521	15988546	91	5045											
TBP	6908	broad.mit.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	10	12	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	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)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q		.											.	TBP-91	0			c.G180A						.						43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	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.180G>A	6.37:g.170871004G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	62	8	NM_003194	0	0	11	11	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	28	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871004	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	15744483	170871004	244063	92	5046											
TBP	6908	mdanderson.org	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																					p.Q73Q		.											.	TBP-91	1	Substitution - coding silent(1)	endometrium(1)	c.G219A						.						17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908	exon3			GCAACAGCAACAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A		Somatic	47	1		WXS	Illumina GAIIx	Phase_I	64	15	NM_003194	0	0	61	73	12	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	28	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	39	170871043	244024	93	5047											
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	11485690	11485690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagattgaattaccaTggctgttacatctagatgtt	8	6	1	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:11485690T>C	ENST00000423059.4	-	13	3313	c.3062A>G	c.(3061-3063)cAt>cGt	p.H1021R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1021	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGAATTACCATGGCTGTTACA	0.433										HNSCC(18;0.044)																											p.H1021R		.											.	THSD7A-71	0			c.A3062G						.						275	250	258					7																	11485690		1927	4145	6072	SO:0001583	missense	221981	exon13			TTACCATGGCTGT		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.3062A>G	7.37:g.11485690T>C	ENSP00000406482:p.His1021Arg	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	213	42	NM_015204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833633	0.71258	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59083	0.29	5.63	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.44542	1.39	0.53688	D	0.999977	B	0.13145	0.007	B	0.12156	0.007	T	0.32693	-0.9897	10	0.16420	T	0.52	.	12.9262	0.58262	0.0:0.0:0.1355:0.8645	.	1021	Q9UPZ6	THS7A_HUMAN	R	1021	ENSP00000406482:H1021R	ENSP00000262042:H1021R	H	-	2	0	THSD7A	11452215	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	7.698000	0.84413	0.945000	0.37605	0.528000	0.53228	CAT	.		0.433	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11485690	T	C	11485690	3	2	28	1	0	0	0	0	1	0	0	0	15926	1464	51	4	1971	4	THSD7A	7	11485690	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		11485690	147652973	94	5048											
BZW2	28969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	16734601	16734601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaggagctccaggagcGtctttctcaggaatgcccga	13	11	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:16734601G>A	ENST00000433922.2	+	8	972	c.794G>A	c.(793-795)cGt>cAt	p.R265H	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Missense_Mutation_p.R71H|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000432311.1_Intron|BZW2_ENST00000258761.3_Missense_Mutation_p.R265H|BZW2_ENST00000405202.1_Missense_Mutation_p.R189H	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	265	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CTCCAGGAGCGTCTTTCTCAG	0.532																																					p.R265H		.											.	BZW2-92	0			c.G794A						.						57	53	54					7																	16734601		2203	4300	6503	SO:0001583	missense	28969	exon8			AGGAGCGTCTTTC	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.794G>A	7.37:g.16734601G>A	ENSP00000397249:p.Arg265His	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	63	15	NM_014038	0	0	75	99	24	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485749	0.63962	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000446596;ENST00000407633	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;0.94;-1.34	6.17	5.29	0.74685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	N	0.22421	0.69	0.80722	D	1	P;P	0.49783	0.928;0.928	B;B	0.39027	0.288;0.288	T	0.72087	-0.4396	10	0.42905	T	0.14	-3.2458	15.7894	0.78343	0.065:0.0:0.935:0.0	.	265;265	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	H	265;265;265;189;265;71	ENSP00000403481:R265H;ENSP00000258761:R265H;ENSP00000397249:R265H;ENSP00000385577:R189H;ENSP00000412750:R265H;ENSP00000384617:R71H	ENSP00000258761:R265H	R	+	2	0	BZW2	16701126	1.000000	0.71417	0.943000	0.38184	0.996000	0.88848	3.451000	0.52964	1.626000	0.50381	0.655000	0.94253	CGT	.		0.532	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		A	16734601	G	A	16734601	3	1	28	1	0	0	0	0	1	0	0	0	1583	1145	40	1	820	1	BZW2	7	16734601	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	5248911	16734601	142404062	95	5049											
SP8	221833	hgsc.bcm.edu;mdanderson.org	37	chr7	20824953	20824953	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggagccgccgccgccGcccccgccgccgccgccgct	15	23	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:20824953G>C	ENST00000361443.4	-	3	666	c.429C>G	c.(427-429)ggC>ggG	p.G143G	SP8_ENST00000418710.2_Silent_p.G161G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	143					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cgccgccgccgcccccgccgc	0.736																																					p.G161G		.											.	SP8-91	0			c.C483G						.						2	2	2					7																	20824953		584	1454	2038	SO:0001819	synonymous_variant	221833	exon2			GCCGCCGCCCCCG		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.429C>G	7.37:g.20824953G>C		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	29	16	NM_182700	0	0	0	0	0	Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																			.		0.736	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			C	20824953	G	C	20824953	2	2	28	1	0	0	0	0	0	0	0	1	15015	1074	38	2		2	SP8	7	20824953	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4090352	20824953	138313710	96	5050											
SP4	6671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	21469550	21469550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctcaagttgtaacaaCcctaccaattaacattggag	7	10	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:21469550C>T	ENST00000222584.3	+	3	985	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	256					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						GTTGTAACAACCCTACCAATT	0.502																																					p.T256I		.											.	SP4-95	0			c.C767T						.						72	68	69					7																	21469550		2203	4300	6503	SO:0001583	missense	6671	exon3			TAACAACCCTACC		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.767C>T	7.37:g.21469550C>T	ENSP00000222584:p.Thr256Ile	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	261	60	NM_003112	0	0	0	0	0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542383	0.45280	.	.	ENSG00000105866	ENST00000222584	T	0.09723	2.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.51422	1.61	0.58432	D	0.999999	P	0.48694	0.914	B	0.40444	0.329	T	0.01956	-1.1240	10	0.72032	D	0.01	.	18.3502	0.90336	0.0:1.0:0.0:0.0	.	256	Q02446	SP4_HUMAN	I	256	ENSP00000222584:T256I	ENSP00000222584:T256I	T	+	2	0	SP4	21436075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.498000	0.66931	2.559000	0.86315	0.655000	0.94253	ACC	.		0.502	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		T	21469550	C	T	21469550	3	4	28	1	0	0	0	0	1	0	0	0	15011	507	18	3	777	3	SP4	7	21469550	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	644597	21469550	137669113	97	5051											
KLHL7	55975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	23163401	23163401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctttgattagaaaacGttgtgtgacgtgatcctcat	8	7	1	4	rs150640353		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:23163401G>A	ENST00000339077.5	+	2	369	c.126G>A	c.(124-126)acG>acA	p.T42T	KLHL7_ENST00000409689.1_De_novo_Start_InFrame|KLHL7_ENST00000322275.5_Silent_p.T42T|KLHL7_ENST00000322231.7_Silent_p.T20T|KLHL7_ENST00000545443.1_Silent_p.T20T|KLHL7_ENST00000545771.1_Silent_p.T20T|KLHL7_ENST00000410047.1_Silent_p.T20T|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000479288.1_Intron	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	42					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T20T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTAGAAAACGTTGTGTGACG	0.373																																					p.T42T		.											.	KLHL7-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A						.	G	,,	0,4406		0,0,2203	117	106	109		126,126,	-10.9	0	7	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-5	KLHL7	NM_001031710.2,NM_001172428.1,NM_018846.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	42/587,42/167,	23163401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55975	exon2			GAAAACGTTGTGT		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.126G>A	7.37:g.23163401G>A		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	98	18	NM_001172428	0	0	0	1	1	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	CCDS34609.1																																																																																			G|1.000;A|0.000		0.373	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		A	23163401	G	A	23163401	2	1	28	1	0	0	0	0	0	0	0	1	8421	1132	40	1		1	KLHL7	7	23163401	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1693851	23163401	135975262	98	5052											
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	47897371	47897371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagctctgaaggttgtaAtgaagaagggtccggaactc	13	7	1	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:47897371A>G	ENST00000289672.2	-	28	4472	c.4422T>C	c.(4420-4422)caT>caC	p.H1474H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1474	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAAGGTTGTAATGAAGAAGGG	0.522																																					p.H1474H		.											.	PKD1L1-145	0			c.T4422C						.						66	66	66					7																	47897371		2203	4300	6503	SO:0001819	synonymous_variant	168507	exon28			GTTGTAATGAAGA	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.4422T>C	7.37:g.47897371A>G		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	127	26	NM_138295	0	0	0	0	0	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																			.		0.522	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47897371	A	G	47897371	2	3	28	1	0	0	0	0	0	0	0	1	12003	98	4	4		4	PKD1L1	7	47897371	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	24733970	47897371	111241292	99	5053											
ABCA13	154664	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	48327569	48327569	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcagaaaacccttcctGgaccaaggacattttgtgtg	10	10	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:48327569G>A	ENST00000435803.1	+	20	8873	c.8849G>A	c.(8848-8850)tGg>tAg	p.W2950*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2950					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						AACCCTTCCTGGACCAAGGAC	0.423																																					p.W2950X		.											.	ABCA13-521	0			c.G8849A						.						144	141	142					7																	48327569		1852	4100	5952	SO:0001587	stop_gained	154664	exon20			CTTCCTGGACCAA	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.8849G>A	7.37:g.48327569G>A	ENSP00000411096:p.Trp2950*	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	87	25	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	50	16.402813	0.99862	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.63	1.77	0.24775	.	0.833256	0.09960	N	0.733505	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	11.139	0.48392	0.0:0.0:0.4935:0.5065	.	.	.	.	X	2950	.	ENSP00000411096:W2950X	W	+	2	0	ABCA13	48298115	0.001000	0.12720	0.000000	0.03702	0.976000	0.68499	0.681000	0.25320	0.052000	0.16007	-0.467000	0.05162	TGG	.		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48327569	G	A	48327569	4	1	28	1	0	0	0	0	0	1	0	0	31	1357	47	3	8756	3	ABCA13	7	48327569	Nonsense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	430198	48327569	110811094	100	5054											
GRB10	2887	bcgsc.ca	37	chr7	50682537	50682537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcagggagaagatgttgCtgtcctccaggtcggccagc	14	11	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:50682537C>T	ENST00000401949.1	-	12	1494	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	GRB10_ENST00000439599.1_Missense_Mutation_p.S336N|GRB10_ENST00000407526.1_Missense_Mutation_p.S284N|GRB10_ENST00000402497.1_Missense_Mutation_p.S284N|GRB10_ENST00000398810.2_Missense_Mutation_p.S284N|GRB10_ENST00000402578.1_Missense_Mutation_p.S284N|GRB10_ENST00000335866.3_Missense_Mutation_p.S284N|GRB10_ENST00000357271.5_Missense_Mutation_p.S296N|GRB10_ENST00000403097.1_Missense_Mutation_p.S336N|GRB10_ENST00000406641.1_Missense_Mutation_p.S284N|GRB10_ENST00000398812.2_Missense_Mutation_p.S342N			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	342	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GAAGATGTTGCTGTCCTCCAG	0.572									Russell-Silver syndrome																												p.S342N		.											.	GRB10-1272	0			c.G1025A						.						119	127	124					7																	50682537		2091	4220	6311	SO:0001583	missense	2887	exon9	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	ATGTTGCTGTCCT		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1025G>A	7.37:g.50682537C>T	ENSP00000385770:p.Ser342Asn	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	126	6	NM_005311	0	0	0	0	0	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936288	0.73442	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.80994	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.44;-1.01;-1.01;-1.01	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.034451	0.85682	D	0.000000	T	0.80989	0.4730	L	0.41079	1.255	0.80722	D	1	B;P;B	0.39094	0.125;0.659;0.077	B;P;B	0.45343	0.141;0.477;0.118	T	0.81125	-0.1075	10	0.52906	T	0.07	-27.1964	19.4964	0.95075	0.0:1.0:0.0:0.0	.	336;296;342	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	N	342;336;284;284;284;336;284;296;284;342;284	ENSP00000381793:S342N;ENSP00000406716:S336N;ENSP00000338543:S284N;ENSP00000381790:S284N;ENSP00000385189:S284N;ENSP00000385544:S336N;ENSP00000385366:S284N;ENSP00000349818:S296N;ENSP00000385046:S284N;ENSP00000385770:S342N;ENSP00000385748:S284N	ENSP00000338543:S284N	S	-	2	0	GRB10	50650031	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	6.072000	0.71238	2.610000	0.88304	0.655000	0.94253	AGC	.		0.572	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			T	50682537	C	T	50682537	3	4	28	1	0	0	0	0	1	0	0	0	6783	797	28	3	791	3	GRB10	7	50682537	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2354968	50682537	108456126	101	5055											
CROT	54677	ucsc.edu	37	chr7	86988623	86988623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccagaaattgcttgaaAgagcaaaaggaaaaagaaat	9	5	0	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:86988623A>G	ENST00000331536.3	+	4	402	c.217A>G	c.(217-219)Aga>Gga	p.R73G	CROT_ENST00000412227.2_Missense_Mutation_p.R73G|CROT_ENST00000442291.1_Missense_Mutation_p.R73G|CROT_ENST00000419147.2_Missense_Mutation_p.R101G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	73					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTGCTTGAAAGAGCAAAAGG	0.254																																					p.R101G		.											.	CROT-280	0			c.A301G						.						62	71	68					7																	86988623		2203	4289	6492	SO:0001583	missense	54677	exon5			CTTGAAAGAGCAA		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.217A>G	7.37:g.86988623A>G	ENSP00000331981:p.Arg73Gly	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	40	4	NM_001143935	0	0	8	8	0	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915188	0.73098	.	.	ENSG00000005469	ENST00000419147;ENST00000412227;ENST00000331536;ENST00000442291	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.78	3.24	0.37175	.	0.043063	0.85682	D	0.000000	D	0.96071	0.8720	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.995;0.996;0.978	D	0.96446	0.9330	10	0.72032	D	0.01	-14.6095	12.6576	0.56795	0.7399:0.2601:0.0:0.0	.	101;73;73	E7EQF2;Q9UKG9;Q86V17	.;OCTC_HUMAN;.	G	101;73;73;73	ENSP00000413575:R101G;ENSP00000404867:R73G;ENSP00000331981:R73G;ENSP00000411983:R73G	ENSP00000331981:R73G	R	+	1	2	CROT	86826559	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.407000	0.66363	1.106000	0.41623	0.482000	0.46254	AGA	.		0.254	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		G	86988623	A	G	86988623	3	3	28	1	0	0	0	0	1	0	0	0	3901	64	3	4	311	4	CROT	7	86988623	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	36306086	86988623	72150040	102	5056											
AKAP9	10142	broad.mit.edu	37	chr7	91667778	91667778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaacaaactgaactgTctagaatatctgggggaaaa	9	7	3	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:91667778T>C	ENST00000359028.2	+	18	4645	c.4420T>C	c.(4420-4422)Tct>Cct	p.S1474P	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1474P|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1462P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1474					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)			AACTGAACTGTCTAGAATATC	0.318			T	BRAF	papillary thyroid																																p.S1462P		.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9-755	0			c.T4384C						.						57	57	57					7																	91667778		2203	4300	6503	SO:0001583	missense	10142	exon17			GAACTGTCTAGAA	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.4420T>C	7.37:g.91667778T>C	ENSP00000351922:p.Ser1474Pro	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	95	3	NM_005751	0	0	1	1	0	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	10.36	1.328281	0.24080	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03635	3.87;3.87;3.86	5.13	2.54	0.30619	.	0.198599	0.25332	N	0.031439	T	0.07728	0.0194	L	0.60455	1.87	0.20196	N	0.999924	P;P;P;P	0.46220	0.61;0.874;0.852;0.852	B;B;B;P	0.50896	0.193;0.369;0.354;0.653	T	0.08638	-1.0712	10	0.66056	D	0.02	.	7.2638	0.26217	0.1186:0.0:0.233:0.6484	.	1474;1462;1462;1474	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	P	1462;1474;1474;1474;1474	ENSP00000348573:S1462P;ENSP00000351922:S1474P;ENSP00000350813:S1474P	ENSP00000348573:S1462P	S	+	1	0	AKAP9	91505714	0.962000	0.33011	0.459000	0.27081	0.936000	0.57629	1.521000	0.35910	0.876000	0.35872	0.477000	0.44152	TCT	.		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91667778	T	C	91667778	3	2	28	1	0	0	0	0	1	0	0	0	459	1667	58	4	4450	4	AKAP9	7	91667778	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	4679155	91667778	67470885	103	5057											
AASS	10157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	121769438	121769438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaatctcatccaacaAgcccatattggcctcctgag	6	12	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:121769438A>G	ENST00000393376.1	-	2	459	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.L122L			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	122	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						TCATCCAACAAGCCCATATTG	0.303																																					p.L122L		.											.	AASS-92	0			c.T364C						.						58	57	57					7																	121769438		2202	4300	6502	SO:0001819	synonymous_variant	10157	exon3			CCAACAAGCCCAT	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.364T>C	7.37:g.121769438A>G		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	24	8	NM_005763	0	0	0	0	0	O95462	Silent	SNP	ENST00000393376.1	37	CCDS5783.1																																																																																			.		0.303	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121769438	A	G	121769438	2	3	28	1	0	0	0	0	0	0	0	1	24	69	3	4		4	AASS	7	121769438	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	30101660	121769438	37369225	104	5058											
ATP6V0E2	155066	hgsc.bcm.edu	37	chr7	149571095	149571095	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccggctggggacccGcgcacctgcagcgcccgctg	15	19	0	0	rs79377053	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr7:149571095G>A	ENST00000464662.1	+	0	14				ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000425642.2_5'Flank|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000479613.1_5'UTR|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.A30T|ATP6V0E2_ENST00000606024.1_5'UTR			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|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)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTGGGGACCCGCGCACCTGCA	0.716													G|||	682	0.136182	0.3994	0.049	5008	,	,		12396	0.0526		0.0368	False		,,,				2504	0.0307				p.A30T		.											.	.	0			c.G88A						.	G	THR/ALA,THR/ALA	991,2511		116,759,876	4	6	5		88,88	1.7	0	7	dbSNP_132	5	266,6746		7,252,3247	no	missense,missense	ATP6V0E2	NM_001100592.1,NM_145230.2	58,58	123,1011,4123	AA,AG,GG		3.7935,28.2981,11.9555	probably-damaging,probably-damaging	30/214,30/131	149571095	1257,9257	1751	3506	5257	SO:0001623	5_prime_UTR_variant	155066	exon1			GGACCCGCGCACC	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000464662.1:c.-60G>A	7.37:g.149571095G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	23	10	NM_001100592	0	0	3	6	3	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000464662.1	37		283	0.1295787545787546	188	0.3821138211382114	21	0.058011049723756904	42	0.07342657342657342	32	0.04221635883905013	G	14.56	2.570645	0.45798	0.282981	0.037935	ENSG00000171130	ENST00000421974;ENST00000456496	.	.	.	2.57	1.67	0.24075	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.43550	P	0.004141999999999979	P	0.40638	0.725	B	0.27608	0.081	T	0.43988	-0.9357	7	0.87932	D	0	.	7.3999	0.26958	0.0:0.2709:0.7291:0.0	.	30	E9PAS2	.	T	30	.	ENSP00000411672:A30T	A	+	1	0	ATP6V0E2	149202028	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.103000	0.15292	0.651000	0.30788	0.563000	0.77884	GCG	G|0.870;A|0.130		0.716	ATP6V0E2-007	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350177.2	NM_145230		A	149571095	G	A	149571095	1	1	28	0	1	0	0	0	0	0	0	0	1177	1087	38	1		1	ATP6V0E2	7	149571095	5'UTR	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	27801657	149571095	9567568	105	5059											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	2857496	2857496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacggacacagacaggcgtTtgtccagaccacttgtggtc	11	11	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:2857496T>C	ENST00000520002.1	-	54	8745	c.8190A>G	c.(8188-8190)caA>caG	p.Q2730Q	CSMD1_ENST00000537824.1_Silent_p.Q2729Q|CSMD1_ENST00000602723.1_Silent_p.Q2672Q|CSMD1_ENST00000542608.1_Silent_p.Q2671Q|CSMD1_ENST00000400186.3_Silent_p.Q2672Q|CSMD1_ENST00000602557.1_Silent_p.Q2730Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2730	Sushi 18. {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)		AGACAGGCGTTTGTCCAGACC	0.473																																					p.Q2729Q		.											.	CSMD1-86	0			c.A8187G						.						176	173	174					8																	2857496		1976	4160	6136	SO:0001819	synonymous_variant	64478	exon53			AGGCGTTTGTCCA			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.8190A>G	8.37:g.2857496T>C		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	129	21	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	T	2.119	-0.401803	0.04865	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.07	-4.41	0.03590	.	.	.	.	.	T	0.51126	0.1656	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50363	-0.8837	4	.	.	.	.	8.5356	0.33362	0.0:0.1951:0.2018:0.6032	.	.	.	.	D	2147	.	.	N	-	1	0	CSMD1	2844903	1.000000	0.71417	0.137000	0.22149	0.220000	0.24768	0.610000	0.24253	-0.842000	0.04195	-0.290000	0.09829	AAC	.		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2857496	T	C	2857496	2	2	28	1	0	0	0	0	0	0	0	1	3953	1838	64	4		4	CSMD1	8	2857496	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		2857496	143506526	106	5060											
ANGPT2	285	broad.mit.edu	37	chr8	6378801	6378801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgtggcagtcactatttTtttttctagttcttcaatga	6	9	4	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:6378801T>C	ENST00000325203.5	-	4	1171	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	ANGPT2_ENST00000523120.1_Missense_Mutation_p.K233E|ANGPT2_ENST00000338312.6_Missense_Mutation_p.K181E|ANGPT2_ENST00000415216.1_Missense_Mutation_p.K233E|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	233					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTCACTATTTTTTTTTCTAGT	0.363																																					p.K233E		.											.	ANGPT2-91	0			c.A697G						.						169	160	163					8																	6378801		2203	4300	6503	SO:0001583	missense	285	exon4			CTATTTTTTTTTC	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.697A>G	8.37:g.6378801T>C	ENSP00000314897:p.Lys233Glu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	129	4	NM_001118887	0	0	3	3	0	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654010	0.29425	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.53640	0.63;0.64;0.61;1.34	5.91	4.05	0.47172	.	0.110549	0.64402	D	0.000006	T	0.27169	0.0666	N	0.11427	0.14	0.31498	N	0.66518	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.001;0.001	T	0.17137	-1.0379	10	0.15499	T	0.54	.	12.965	0.58480	0.0:0.0:0.6829:0.3171	.	181;233;233;233	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	E	233;233;181;233	ENSP00000314897:K233E;ENSP00000400782:K233E;ENSP00000343517:K181E;ENSP00000428023:K233E	ENSP00000314897:K233E	K	-	1	0	ANGPT2	6366209	1.000000	0.71417	0.010000	0.14722	0.577000	0.36160	4.956000	0.63645	0.765000	0.33221	-0.213000	0.12676	AAA	.		0.363	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		C	6378801	T	C	6378801	3	2	28	1	0	0	0	0	1	0	0	0	611	1850	64	4	817	4	ANGPT2	8	6378801	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	3521305	6378801	139985221	107	5061											
GOT1L1	137362	broad.mit.edu	37	chr8	37794838	37794838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggtccatgcatagcttcTtggggtcccagacagagtat	13	10	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:37794838T>C	ENST00000307599.4	-	4	575	c.476A>G	c.(475-477)aAg>aGg	p.K159R	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	159					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCATAGCTTCTTGGGGTCCCA	0.532																																					p.K159R		.											.	GOT1L1-23	0			c.A476G						.						50	49	49					8																	37794838		1889	4111	6000	SO:0001583	missense	137362	exon4			AGCTTCTTGGGGT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.476A>G	8.37:g.37794838T>C	ENSP00000303077:p.Lys159Arg	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	123	4	NM_152413	0	0	0	0	0	A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457696	0.43634	.	.	ENSG00000169154	ENST00000307599	D	0.91295	-2.82	5.04	-0.104	0.13605	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	2.762270	0.01167	N	0.006786	D	0.86830	0.6027	L	0.45581	1.43	0.09310	N	1	P	0.34864	0.473	B	0.34991	0.193	T	0.72443	-0.4292	10	0.45353	T	0.12	1.3966	4.5003	0.11860	0.0:0.1858:0.3536:0.4606	.	159	Q8NHS2	AATC2_HUMAN	R	159	ENSP00000303077:K159R	ENSP00000303077:K159R	K	-	2	0	GOT1L1	37913995	0.000000	0.05858	0.000000	0.03702	0.684000	0.39900	-0.220000	0.09215	-0.244000	0.09639	0.449000	0.29647	AAG	.		0.532	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		C	37794838	T	C	37794838	3	2	28	1	0	0	0	0	1	0	0	0	6606	1609	56	4	658	4	GOT1L1	8	37794838	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	31416037	37794838	108569184	108	5062											
LSM1	27257	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	38021296	38021298	+	In_Frame_Del	DEL	TTC	TTC	-													gtctgctgttccaccctttgTtcttctagaatttcttcaat							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TTC	TTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:38021296_38021298delTTC	ENST00000311351.4	-	4	687_689	c.292_294delGAA	c.(292-294)gaadel	p.E98del	LSM1_ENST00000520755.1_3'UTR|RP11-90P5.2_ENST00000520598.1_RNA|RP11-90P5.7_ENST00000521915.1_RNA|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	98					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCACCCTTTGTTCTTCTAGAATT	0.468																																					p.98_98del		.											.	LSM1-90	0			c.292_294del						.																																			SO:0001651	inframe_deletion	27257	exon4			CCTTTGTTCTTCT	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.292_294delGAA	8.37:g.38021299_38021301delTTC	ENSP00000310596:p.Glu98del	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	112	26	NM_014462	0	0	0	0	0	B2R5E6	In_Frame_Del	DEL	ENST00000311351.4	37	CCDS6103.1																																																																																			.		0.468	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		-	38021298	TTC	-	38021296	7	5	28	1	0	1	0	1	0	0	0	0	9085	1722	60	0	111	0	LSM1	8	38021296	In_Frame_Del	DEL	TTC	TCGA-OR-A5K5-01A-11D-A29I-10	226458	38021296	108342726	109	5063											
SLCO5A1	81796	ucsc.edu	37	chr8	70617290	70617290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtataagggatgtttatgCcccctagattaatgctttca	8	7	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:70617290C>T	ENST00000260126.4	-	6	2304	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G533D|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G478D	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	533						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)			GATGTTTATGCCCCCTAGATT	0.443																																					p.G533D		.											.	SLCO5A1-94	0			c.G1598A						.						129	119	122					8																	70617290		2203	4300	6503	SO:0001583	missense	81796	exon5			TTTATGCCCCCTA	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.1598G>A	8.37:g.70617290C>T	ENSP00000260126:p.Gly533Asp	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	24	4	NM_001146008	0	0	0	0	0	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197752	0.94997	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.51574	0.7;0.7;0.7	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104990	0.64402	D	0.000004	T	0.75649	0.3878	M	0.89030	3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79704	-0.1692	10	0.87932	D	0	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	478;478;533;533	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	D	533;533;478	ENSP00000260126:G533D;ENSP00000434422:G533D;ENSP00000431611:G478D	ENSP00000260126:G533D	G	-	2	0	SLCO5A1	70779844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	GGC	.		0.443	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		T	70617290	C	T	70617290	3	4	28	1	0	0	0	0	1	0	0	0	14776	739	26	3	968	3	SLCO5A1	8	70617290	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	32595994	70617290	75746732	110	5064											
ANGPT1	284	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	108334173	108334173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggactgtgtccatcagCtccagttgctgcttctgaag	11	10	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:108334173C>T	ENST00000520734.1	-	3	444	c.159G>A	c.(157-159)gaG>gaA	p.E53E	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.E53E			Q15389	ANGP1_HUMAN	angiopoietin 1	253					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)			TGTCCATCAGCTCCAGTTGCT	0.398																																					p.E253E		.											.	ANGPT1-521	0			c.G759A						.						189	174	179					8																	108334173		2203	4300	6503	SO:0001819	synonymous_variant	284	exon4			CATCAGCTCCAGT	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.159G>A	8.37:g.108334173C>T		Somatic	182	2		WXS	Illumina GAIIx	Phase_I	209	39	NM_001199859	0	0	1	1	0	Q5HYA0	Silent	SNP	ENST00000520734.1	37																																																																																				.		0.398	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		T	108334173	C	T	108334173	2	4	28	1	0	0	0	0	0	0	0	1	610	796	28	3		3	ANGPT1	8	108334173	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	37716883	108334173	38029849	111	5065											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	113323220	113323220	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttcaccttgacaggcaggGactggcgcatcccatgcatg	11	13	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:113323220G>T	ENST00000297405.5	-	50	8116	c.7872C>A	c.(7870-7872)gtC>gtA	p.V2624V	CSMD3_ENST00000352409.3_Silent_p.V2554V|CSMD3_ENST00000455883.2_Silent_p.V2520V|CSMD3_ENST00000343508.3_Silent_p.V2584V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2624	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACAGGCAGGGACTGGCGCAT	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V2624V		.											.	CSMD3-1132	0			c.C7872A						.						111	92	98					8																	113323220		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon50			GGCAGGGACTGGC	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.7872C>A	8.37:g.113323220G>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	127	30	NM_198123	0	0	0	0	0	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			.		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113323220	G	T	113323220	2	4	28	1	0	0	0	0	0	0	0	1	3955	1161	41	3		3	CSMD3	8	113323220	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4989047	113323220	33040802	112	5066											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	2	2		WXS	Illumina GAIIx	Phase_I	18	18	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	28	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5K5-01A-11D-A29I-10	6897556	120220776	26143246	113	5067											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_030895	0	0	0	3	3	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	28	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	24158092	144378868	1985154	114	5068											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000527096.1_Silent_p.A1999A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	28	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	619301	144998169	1365853	115	5069			2	24		3	3	201	N	T_C_A	9.859411e-07
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000527096.1_Silent_p.A1992A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	18	NM_201380	0	0	0	4	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	28	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	21	144998190	1365832	116	5070			2	24		3	3	201	N	T_C_A	9.859411e-07
PLEC	5339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144998369	144998369	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcctccaccagcccctTctgccgctccagctcgctgt	8	20	1	0	rs570260545		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:144998369T>A	ENST00000322810.4	-	31	6308	c.6139A>T	c.(6139-6141)Aag>Tag	p.K2047*	PLEC_ENST00000357649.2_Nonsense_Mutation_p.K1914*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.K1910*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.K1896*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.K1878*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.K1888*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.K1910*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.K1937*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.K1933*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2047	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCAGCCCCTTCTGCCGCTCC	0.706																																					p.K2047X		.											.	PLEC-141	0			c.A6139T						.						15	18	17					8																	144998369		2144	4219	6363	SO:0001587	stop_gained	5339	exon31			GCCCCTTCTGCCG	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.6139A>T	8.37:g.144998369T>A	ENSP00000323856:p.Lys2047*	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	110	40	NM_201380	0	0	4	4	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	47	13.703654	0.99758	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.28	4.28	0.50868	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2461	0.60024	0.0:0.0:0.0:1.0	.	.	.	.	X	1910;1914;1910;1878;2047;1888;1896;1937;1933	.	ENSP00000323856:K2047X	K	-	1	0	PLEC	145070357	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.861000	0.56002	1.801000	0.52704	0.448000	0.29417	AAG	.		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144998369	T	A	144998369	4	1	28	1	0	0	0	0	0	1	0	0	12091	1792	62	5	7923	5	PLEC	8	144998369	Nonsense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	179	144998369	1365653	117	5071			2	24		3	3	201	N	T_C_A	9.859411e-07
HEATR7A	727957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	145247210	145247210	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctccctacccggagcAgagcctgggccagatcctcg	10	17	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:145247210A>C	ENST00000528919.1	+	9	976		c.e9-1		MROH1_ENST00000398656.4_Splice_Site|MROH1_ENST00000326134.5_Splice_Site|MROH1_ENST00000423230.2_Splice_Site|MROH1_ENST00000534366.1_Splice_Site	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		TACCCGGAGCAGAGCCTGGGC	0.632																																					.		.											.	.	0			c.856-2A>C						.						20	25	23					8																	145247210		2047	4195	6242	SO:0001630	splice_region_variant	727957	exon9			CGGAGCAGAGCCT		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.856-1A>C	8.37:g.145247210A>C		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	46	14	NM_001099281	0	0	0	0	0	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Splice_Site	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517509	0.64634	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1124	0.59281	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR7A	145319198	1.000000	0.71417	0.993000	0.49108	0.650000	0.38633	7.835000	0.86780	1.998000	0.58463	0.460000	0.39030	.	.		0.632	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450	Intron	C	145247210	A	C	145247210	5	2	28	1	0	0	0	0	0	0	1	0	7061	202	7	5	884	5	HEATR7A	8	145247210	Splice_Site	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	248841	145247210	1116812	118	5072											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_213605	0	0	0	2	2		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	28	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	786137	146033347	330675	119	5073											
ARID3C	138715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	34627865	34627865	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttcctcttcctcagcCccaacattccccaaggcccc	4	21	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:34627865C>A	ENST00000378909.2	-	1	239	c.147G>T	c.(145-147)ggG>ggT	p.G49G		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	49					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		cttcctcAGCCCCAACATTCC	0.682																																					p.G49G		.											.	ARID3C-91	0			c.G147T						.						19	17	17					9																	34627865		2183	4246	6429	SO:0001819	synonymous_variant	138715	exon1			CTCAGCCCCAACA		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.147G>T	9.37:g.34627865C>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	92	51	NM_001017363	0	0	0	0	0		Silent	SNP	ENST00000378909.2	37	CCDS35006.1																																																																																			.		0.682	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		A	34627865	C	A	34627865	2	1	28	1	0	0	0	0	0	0	0	1	918	610	22	3		3	ARID3C	9	34627865	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10		34627865	106585566	120	5074											
C9orf131	138724	broad.mit.edu	37	chr9	35045280	35045280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggaacaagggtctcAgagaggggagaaaatgaagg	18	5	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:35045280A>G	ENST00000312292.5	+	2	2701	c.2654A>G	c.(2653-2655)cAg>cGg	p.Q885R	C9orf131_ENST00000354479.5_Missense_Mutation_p.Q812R|C9orf131_ENST00000421362.2_Missense_Mutation_p.Q837R|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	885										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)			CAAGGGTCTCAGAGAGGGGAG	0.572																																					p.Q885R		.											.	C9orf131-90	0			c.A2654G						.						193	201	198					9																	35045280		2203	4300	6503	SO:0001583	missense	138724	exon2			GGTCTCAGAGAGG	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.2654A>G	9.37:g.35045280A>G	ENSP00000308279:p.Gln885Arg	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	103	4	NM_203299	0	0	0	0	0	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706488	0.48412	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.18338	2.23;2.22;2.23	4.19	1.75	0.24633	.	1.111940	0.06905	N	0.806573	T	0.19087	0.0458	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.24258	0.025;0.025;0.1;0.025	B;B;B;B	0.20767	0.031;0.031;0.031;0.031	T	0.33445	-0.9868	10	0.56958	D	0.05	0.8435	4.3512	0.11157	0.6895:0.2022:0.1082:0.0	.	360;885;812;837	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	R	837;812;885;360	ENSP00000393683:Q837R;ENSP00000346472:Q812R;ENSP00000308279:Q885R	ENSP00000308279:Q885R	Q	+	2	0	C9orf131	35035280	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.286000	0.18902	0.245000	0.21373	0.460000	0.39030	CAG	.		0.572	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		G	35045280	A	G	35045280	3	3	28	1	0	0	0	0	1	0	0	0	2464	188	7	4	2676	4	C9orf131	9	35045280	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	417415	35045280	106168151	121	5075											
TMEM2	23670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	74347358	74347358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctccttggatcacaataTtccgggtaagaattccaacc	6	12	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:74347358T>C	ENST00000377044.4	-	7	2011	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	TMEM2_ENST00000377066.5_Missense_Mutation_p.N428S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	491					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)		GATCACAATATTCCGGGTAAG	0.443																																					p.N491S		.											.	TMEM2-92	0			c.A1472G						.						123	110	114					9																	74347358		2203	4300	6503	SO:0001583	missense	23670	exon7			ACAATATTCCGGG		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.1472A>G	9.37:g.74347358T>C	ENSP00000366243:p.Asn491Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	100	28	NM_013390	0	0	8	8	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689163	0.88735	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;T	0.93133	-3.17;-1.47	5.54	5.54	0.83059	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.966;0.994	D	0.96926	0.9677	10	0.54805	T	0.06	.	15.6891	0.77436	0.0:0.0:0.0:1.0	.	491;428	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	491;428	ENSP00000366243:N491S;ENSP00000366266:N428S	ENSP00000366243:N491S	N	-	2	0	TMEM2	73537178	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	8.004000	0.88535	2.116000	0.64780	0.528000	0.53228	AAT	.		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74347358	T	C	74347358	3	2	28	1	0	0	0	0	1	0	0	0	16168	1493	52	4	2751	4	TMEM2	9	74347358	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	39302078	74347358	66866073	122	5076											
KIF27	55582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	86518378	86518378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctatacggtctgacTcggggctgaagtttacagtg	11	8	3	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:86518378T>G	ENST00000297814.2	-	4	1198	c.1055A>C	c.(1054-1056)gAg>gCg	p.E352A	KIF27_ENST00000413982.1_Missense_Mutation_p.E352A|KIF27_ENST00000334204.2_Missense_Mutation_p.E352A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	352					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACGGTCTGACTCGGGGCTGAA	0.443																																					p.E352A		.											.	KIF27-523	0			c.A1055C						.						114	113	113					9																	86518378		2203	4300	6503	SO:0001583	missense	55582	exon4			TCTGACTCGGGGC	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1055A>C	9.37:g.86518378T>G	ENSP00000297814:p.Glu352Ala	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	32	6	NM_017576	0	0	0	0	0	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129930	0.37630	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72282	-0.64;-0.64;-0.64	5.56	5.56	0.83823	Kinesin, motor domain (1);	0.207933	0.30869	N	0.008702	T	0.54351	0.1853	N	0.24115	0.695	0.24368	N	0.994841	B;P;P	0.38922	0.053;0.629;0.651	B;B;B	0.33960	0.015;0.173;0.039	T	0.47736	-0.9094	10	0.16896	T	0.51	.	15.7317	0.77810	0.0:0.0:0.0:1.0	.	352;352;352	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	352	ENSP00000297814:E352A;ENSP00000401688:E352A;ENSP00000333928:E352A	ENSP00000297814:E352A	E	-	2	0	KIF27	85708198	0.889000	0.30405	0.948000	0.38648	0.933000	0.57130	4.089000	0.57685	2.125000	0.65367	0.533000	0.62120	GAG	.		0.443	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		G	86518378	T	G	86518378	3	3	28	1	0	0	0	0	1	0	0	0	8323	1551	54	5	3210	5	KIF27	9	86518378	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	12171020	86518378	54695053	123	5077											
PTPDC1	138639	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	96859984	96859984	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaatagaaaagacaatgtCtgagatggtcaccatgcagc	10	7	2	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:96859984C>T	ENST00000375360.3	+	7	1314	c.974C>T	c.(973-975)tCt>tTt	p.S325F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.S377F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	325					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGACAATGTCTGAGATGGTC	0.488																																					p.S379F		.											.	PTPDC1-227	0			c.C1136T						.						87	80	83					9																	96859984		2203	4300	6503	SO:0001583	missense	138639	exon6			CAATGTCTGAGAT	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.974C>T	9.37:g.96859984C>T	ENSP00000364509:p.Ser325Phe	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	132	38	NM_001253829	0	0	0	0	0	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082710	0.76528	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.20332	2.13;2.08	5.97	5.08	0.68730	.	0.092505	0.85682	D	0.000000	T	0.48150	0.1484	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.996;0.991;0.991	T	0.53114	-0.8484	10	0.72032	D	0.01	-11.9369	14.4927	0.67663	0.0:0.9299:0.0:0.0701	.	379;377;379;325	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	F	325;377	ENSP00000364509:S325F;ENSP00000288976:S377F	ENSP00000288976:S377F	S	+	2	0	PTPDC1	95899805	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.631000	0.74277	1.536000	0.49237	0.655000	0.94253	TCT	.		0.488	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		T	96859984	C	T	96859984	3	4	28	1	0	0	0	0	1	0	0	0	12816	913	32	3	1238	3	PTPDC1	9	96859984	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	10341606	96859984	44353447	124	5078											
DFNB31	25861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117169063	117169063	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggctggaggtcctctctcCccagcttccttggctggcct	12	15	1	0	rs368141295		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:117169063C>G	ENST00000362057.3	-	9	1976	c.1808G>C	c.(1807-1809)gGg>gCg	p.G603A	DFNB31_ENST00000265134.6_Missense_Mutation_p.G220A|DFNB31_ENST00000374059.3_Missense_Mutation_p.G252A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	603	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCTCTCTCCCCAGCTTCCT	0.662																																					p.G603A		.											.	DFNB31-95	0			c.G1808C						.						42	37	38					9																	117169063		2202	4297	6499	SO:0001583	missense	25861	exon9			TCTCTCCCCAGCT	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1808G>C	9.37:g.117169063C>G	ENSP00000354623:p.Gly603Ala	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	151	30	NM_001173425	0	0	8	10	2	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248187	0.22880	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.08193	4.04;4.01;3.12	4.78	2.89	0.33648	.	0.434161	0.19258	N	0.118755	T	0.06645	0.0170	L	0.41824	1.3	0.38587	D	0.950328	B;B;B	0.19935	0.018;0.006;0.04	B;B;B	0.22386	0.015;0.014;0.039	T	0.21793	-1.0235	10	0.08179	T	0.78	-10.8335	8.8695	0.35307	0.3002:0.5546:0.1452:0.0	.	603;603;252	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	A	220;252;603	ENSP00000265134:G220A;ENSP00000363172:G252A;ENSP00000354623:G603A	ENSP00000265134:G220A	G	-	2	0	DFNB31	116208884	0.000000	0.05858	0.437000	0.26809	0.613000	0.37349	0.113000	0.15499	0.407000	0.25591	0.491000	0.48974	GGG	.		0.662	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		G	117169063	C	G	117169063	3	3	28	1	0	0	0	0	1	0	0	0	4469	623	22	3	931	3	DFNB31	9	117169063	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	20309079	117169063	24044368	125	5079											
TNC	3371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117792645	117792645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtctccattcagcattGcttgggagcagtccttgggg	13	10	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:117792645G>A	ENST00000350763.4	-	24	6371	c.5960C>T	c.(5959-5961)gCa>gTa	p.A1987V	TNC_ENST00000535648.1_Missense_Mutation_p.A1532V|TNC_ENST00000423613.2_Missense_Mutation_p.A1714V|TNC_ENST00000542877.1_Missense_Mutation_p.A1624V|TNC_ENST00000537320.1_Missense_Mutation_p.A1350V|TNC_ENST00000345230.3_Missense_Mutation_p.A1350V|TNC_ENST00000341037.4_Missense_Mutation_p.A1805V|TNC_ENST00000340094.3_Missense_Mutation_p.A1623V|TNC_ENST00000346706.3_Missense_Mutation_p.A1441V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1987	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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						ATTCAGCATTGCTTGGGAGCA	0.512																																					p.A1987V		.											.	TNC-517	0			c.C5960T						.						122	101	108					9																	117792645		2203	4300	6503	SO:0001583	missense	3371	exon24			AGCATTGCTTGGG		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.5960C>T	9.37:g.117792645G>A	ENSP00000265131:p.Ala1987Val	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	169	46	NM_002160	0	0	1	1	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566476	0.86439	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.35	5.35	0.76521	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.343864	0.34853	N	0.003631	T	0.11067	0.0270	N	0.02225	-0.63	0.25597	N	0.98663	P;B	0.41597	0.756;0.349	B;B	0.42882	0.401;0.17	T	0.27640	-1.0068	10	0.07482	T	0.82	.	19.4228	0.94729	0.0:0.0:1.0:0.0	.	1714;1987	E9PC84;P24821	.;TENA_HUMAN	V	1623;1532;1441;1350;1987;1805;1714;1350;1624	ENSP00000344400:A1623V;ENSP00000438152:A1532V;ENSP00000344555:A1441V;ENSP00000345861:A1350V;ENSP00000265131:A1987V;ENSP00000339553:A1805V;ENSP00000411406:A1714V;ENSP00000443478:A1350V;ENSP00000442242:A1624V	ENSP00000344400:A1623V	A	-	2	0	TNC	116832466	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	6.155000	0.71833	2.663000	0.90544	0.655000	0.94253	GCA	.		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117792645	G	A	117792645	3	1	28	1	0	0	0	0	1	0	0	0	16317	1319	46	3	665	3	TNC	9	117792645	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	623582	117792645	23420786	126	5080											
FPGS	2356	hgsc.bcm.edu	37	chr9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtctgcgcgcggcAtaacgacccaggtcgcggcg	16	15	1	0	rs11554717|rs10760502	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000373245.1_Missense_Mutation_p.I22V|FPGS_ENST00000393706.2_Missense_Mutation_p.I22V|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_5'Flank	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		.											.	FPGS-90	0			c.A64G						.		VAL/ILE	2249,281		997,255,13	1	3	2		64	1.8	0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_004957	0	0	0	2	2	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.235;G|0.765		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130565267	A	G	130565267	3	3	28	1	0	0	0	0	1	0	0	0	6060	217	8	4	66	4	FPGS	9	130565267	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	12772622	130565267	10648164	127	5081											
GLE1	2733	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131271255	131271255	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaggagaaccaacctctgtCtgagacttcgccatcctcta	8	14	3	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:131271255C>G	ENST00000309971.4	+	2	306	c.200C>G	c.(199-201)tCt>tGt	p.S67C	GLE1_ENST00000372770.4_Missense_Mutation_p.S67C|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	67					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAACCTCTGTCTGAGACTTCG	0.498																																					p.S67C		.											.	GLE1-22	0			c.C200G						.						209	172	184					9																	131271255		2203	4300	6503	SO:0001583	missense	2733	exon2			CTCTGTCTGAGAC	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.200C>G	9.37:g.131271255C>G	ENSP00000308622:p.Ser67Cys	Somatic	215	1		WXS	Illumina GAIIx	Phase_I	331	58	NM_001499	1	0	8	9	0	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517627	0.64634	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66638	-0.22;0.19	5.48	4.58	0.56647	.	0.418418	0.27682	N	0.018297	T	0.73528	0.3598	M	0.66939	2.045	0.80722	D	1	P;D	0.59357	0.89;0.985	B;P	0.55161	0.41;0.77	T	0.75091	-0.3440	10	0.54805	T	0.06	-3.4603	11.0773	0.48038	0.0:0.9139:0.0:0.0861	.	67;67	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	C	67	ENSP00000308622:S67C;ENSP00000361856:S67C	ENSP00000308622:S67C	S	+	2	0	GLE1	130311076	0.451000	0.25705	0.165000	0.22776	0.011000	0.07611	2.982000	0.49337	1.318000	0.45170	0.462000	0.41574	TCT	.		0.498	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		G	131271255	C	G	131271255	3	3	28	1	0	0	0	0	1	0	0	0	6461	913	32	3	206	3	GLE1	9	131271255	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	705988	131271255	9942176	128	5082											
GLE1	2733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131271329	131271329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaatctcctgacgcaAgctctgccttttccccagcc	5	18	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr9:131271329A>G	ENST00000309971.4	+	2	380	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	GLE1_ENST00000372770.4_Missense_Mutation_p.S92G|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	92					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCCTGACGCAAGCTCTGCCTT	0.493																																					p.S92G		.											.	GLE1-22	0			c.A274G						.						180	147	158					9																	131271329		2203	4300	6503	SO:0001583	missense	2733	exon2			GACGCAAGCTCTG	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.274A>G	9.37:g.131271329A>G	ENSP00000308622:p.Ser92Gly	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	335	53	NM_001499	0	0	7	7	0	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504613	0.26949	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.65732	-0.17;0.25	5.29	0.153	0.14897	.	1.531570	0.03022	N	0.150864	T	0.53546	0.1803	L	0.47716	1.5	0.18873	N	0.999988	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.19484	-1.0304	10	0.29301	T	0.29	-0.6179	5.6917	0.17833	0.3756:0.4342:0.1902:0.0	.	92;92	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	G	92	ENSP00000308622:S92G;ENSP00000361856:S92G	ENSP00000308622:S92G	S	+	1	0	GLE1	130311150	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.036000	0.12185	0.027000	0.15297	-0.648000	0.03929	AGC	.		0.493	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		G	131271329	A	G	131271329	3	3	28	1	0	0	0	0	1	0	0	0	6461	72	3	4	280	4	GLE1	9	131271329	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	74	131271329	9942102	129	5083											
CCDC3	83643	bcgsc.ca	37	chr10	12940564	12940564	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacctcttgaccttcTtcactcgctcccggagctgc	9	16	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:12940564T>A	ENST00000378825.3	-	3	791	c.665A>T	c.(664-666)aAg>aTg	p.K222M	CCDC3_ENST00000378839.1_Missense_Mutation_p.K97M	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	222						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CTTGACCTTCTTCACTCGCTC	0.632																																					p.K222M		.											.	CCDC3-91	0			c.A665T						.						78	77	77					10																	12940564		2203	4300	6503	SO:0001583	missense	83643	exon3			ACCTTCTTCACTC	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.665A>T	10.37:g.12940564T>A	ENSP00000368102:p.Lys222Met	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	137	6	NM_031455	0	0	0	0	0	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860052	0.71834	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.22743	1.94	5.42	5.42	0.78866	.	0.133905	0.49305	D	0.000141	T	0.40595	0.1123	L	0.59436	1.845	0.36316	D	0.85795	D	0.76494	0.999	D	0.63192	0.912	T	0.51426	-0.8707	10	0.72032	D	0.01	-28.5483	14.6402	0.68717	0.0:0.0:0.0:1.0	.	222	Q9BQI4	CCDC3_HUMAN	M	97;222	ENSP00000368116:K97M	ENSP00000368102:K222M	K	-	2	0	CCDC3	12980570	0.999000	0.42202	0.996000	0.52242	0.694000	0.40290	3.398000	0.52579	2.062000	0.61559	0.459000	0.35465	AAG	.		0.632	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		A	12940564	T	A	12940564	3	1	28	1	0	0	0	0	1	0	0	0	2811	1609	56	5	151	5	CCDC3	10	12940564	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		12940564	122594183	130	5084											
HSPA14	51182	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	14909858	14909859	+	Frame_Shift_Del	DEL	TA	TA	-													cttcagtgtgccttgaactcTatgagtctgatgggaagaac							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TA	TA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:14909858_14909859delTA	ENST00000378372.3	+	12	1569_1570	c.1330_1331delTA	c.(1330-1332)tatfs	p.Y444fs		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	444					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCTTGAACTCTATGAGTCTGAT	0.436																																					p.444_444del		.											.	HSPA14-291	0			c.1330_1331del						.																																			SO:0001589	frameshift_variant	51182	exon12			GAACTCTATGAGT	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1330_1331delTA	10.37:g.14909858_14909859delTA	ENSP00000367623:p.Tyr444fs	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	158	60	NM_016299	0	0	0	0	0	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Frame_Shift_Del	DEL	ENST00000378372.3	37	CCDS7103.1																																																																																			.		0.436	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		-	14909859	TA	-	14909858	7	5	28	1	0	1	0	1	0	0	0	0	7434	1522	53	0	1376	0	HSPA14	10	14909858	Frame_Shift_Del	DEL	TA	TCGA-OR-A5K5-01A-11D-A29I-10	1969294	14909858	120624889	131	5085											
OLAH	55301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	15103749	15103749	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttaaggcttcctggaagaGaaagcagagttgaagaacct	11	8	0	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:15103749G>C	ENST00000378228.3	+	4	444	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	OLAH_ENST00000378217.3_Missense_Mutation_p.E117Q	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	64					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCTGGAAGAGAAAGCAGAGT	0.423																																					p.E117Q		.											.	OLAH-68	0			c.G349C						.						117	112	114					10																	15103749		2203	4300	6503	SO:0001583	missense	55301	exon5			GGAAGAGAAAGCA	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.190G>C	10.37:g.15103749G>C	ENSP00000367473:p.Glu64Gln	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	150	35	NM_018324	0	0	0	0	0	Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.590867	0.46214	.	.	ENSG00000152463	ENST00000428897;ENST00000429028;ENST00000378228;ENST00000378225;ENST00000378217	.	.	.	5.07	5.07	0.68467	Thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	L	0.54908	1.71	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	T	0.67647	-0.5617	9	0.15952	T	0.53	-27.7099	15.9808	0.80108	0.0:0.0:1.0:0.0	.	64;117	Q9NV23;Q9NV23-2	SAST_HUMAN;.	Q	64;64;64;85;117	.	ENSP00000367462:E117Q	E	+	1	0	OLAH	15143755	1.000000	0.71417	0.995000	0.50966	0.322000	0.28314	4.733000	0.62036	2.364000	0.80123	0.650000	0.86243	GAA	.		0.423	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		C	15103749	G	C	15103749	3	2	28	1	0	0	0	0	1	0	0	0	10890	943	33	3	363	3	OLAH	10	15103749	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	193891	15103749	120430998	132	5086											
FRMPD2	143162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	49440201	49440201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgagttcctcgaggttGgcaaaggatgtcacggcatt	14	7	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:49440201G>A	ENST00000374201.3	-	10	1427	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	FRMPD2_ENST00000305531.3_Silent_p.A351A|FRMPD2_ENST00000407470.4_Silent_p.A344A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	375	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTCGAGGTTGGCAAAGGATG	0.527																																					p.A375A		.											.	FRMPD2-153	0			c.C1125T						.						156	142	146					10																	49440201		2203	4300	6503	SO:0001819	synonymous_variant	143162	exon10			GAGGTTGGCAAAG	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1125C>T	10.37:g.49440201G>A		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	138	47	NM_001018071	0	0	0	0	0	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	CCDS31195.1																																																																																			.		0.527	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		A	49440201	G	A	49440201	2	1	28	1	0	0	0	0	0	0	0	1	6082	1335	47	3		3	FRMPD2	10	49440201	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	34336452	49440201	86094546	133	5087											
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	61835910	61835910	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttttatcggcgaagacaTtgtccgaaaggatctaattg	10	6	1	1	rs201650334		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:61835910T>A	ENST00000280772.2	-	37	4920	c.4729A>T	c.(4729-4731)Atg>Ttg	p.M1577L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1577	Ser-rich.				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						GGCGAAGACATTGTCCGAAAG	0.463																																					p.M1577L		.											.	ANK3-107	0			c.A4729T						.						203	181	188					10																	61835910		2203	4300	6503	SO:0001583	missense	288	exon37			AAGACATTGTCCG	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.4729A>T	10.37:g.61835910T>A	ENSP00000280772:p.Met1577Leu	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	340	72	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776680	0.31411	.	.	ENSG00000151150	ENST00000280772	T	0.60797	0.16	5.78	1.62	0.23740	.	0.861607	0.09681	N	0.769743	T	0.42223	0.1193	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15492	-1.0435	10	0.42905	T	0.14	.	10.7522	0.46216	0.0:0.2147:0.0:0.7853	.	1577	Q12955	ANK3_HUMAN	L	1577	ENSP00000280772:M1577L	ENSP00000280772:M1577L	M	-	1	0	ANK3	61505916	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	3.256000	0.51492	0.419000	0.25927	0.482000	0.46254	ATG	.		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61835910	T	A	61835910	3	1	28	1	0	0	0	0	1	0	0	0	622	1493	52	5	8745	5	ANK3	10	61835910	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	12395709	61835910	73698837	134	5088											
CYP26C1	340665	broad.mit.edu	37	chr10	94828150	94828150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagacggctgcggtgtaccGcagccctcccgaaggcttcg	14	15	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr10:94828150G>A	ENST00000285949.5	+	6	1265	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	422					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGGTGTACCGCAGCCCTCCC	0.662																																					p.R422H		.											.	CYP26C1-90	0			c.G1265A						.						23	28	26					10																	94828150		2084	4099	6183	SO:0001583	missense	340665	exon6			TGTACCGCAGCCC		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1265G>A	10.37:g.94828150G>A	ENSP00000285949:p.Arg422His	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	85	4	NM_183374	0	0	0	0	0	Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081325	0.76528	.	.	ENSG00000187553	ENST00000285949	T	0.70749	-0.51	5.17	3.29	0.37713	.	0.435419	0.26646	N	0.023232	T	0.56426	0.1984	N	0.20685	0.6	0.25997	N	0.982173	P	0.50156	0.932	P	0.46144	0.505	T	0.50955	-0.8766	10	0.51188	T	0.08	-3.5919	7.1406	0.25554	0.3804:0.0:0.6196:0.0	.	422	Q6V0L0	CP26C_HUMAN	H	422	ENSP00000285949:R422H	ENSP00000285949:R422H	R	+	2	0	CYP26C1	94818140	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	3.253000	0.51469	1.173000	0.42796	0.555000	0.69702	CGC	.		0.662	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		A	94828150	G	A	94828150	3	1	28	1	0	0	0	0	1	0	0	0	4166	1087	38	1	1287	1	CYP26C1	10	94828150	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	32992240	94828150	40706597	135	5089											
C11orf35	256329	hgsc.bcm.edu	37	chr11	560710	560710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccgcgggccgcagccAccgcatttccgcgtttttcg	11	18	0	0	rs200922487	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:560710A>G	ENST00000329451.3	-	1	69	c.7T>C	c.(7-9)Tgg>Cgg	p.W3R	RASSF7_ENST00000397582.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_Intron|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		3										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCGCAGCCACCGCATTTCC	0.736													A|||	12	0.00239617	8e-04	0.0014	5008	,	,		9417	0		0.008	False		,,,				2504	0.002				p.W3R		.											.	C11orf35-69	0			c.T7C						.	A	ARG/TRP	6,3474		0,6,1734	3	4	4		7	-5.7	0	11		4	34,7044		0,34,3505	yes	missense	C11orf35	NM_173573.2	101	0,40,5239	GG,GA,AA		0.4804,0.1724,0.3789	benign	3/635	560710	40,10518	1740	3539	5279	SO:0001583	missense	256329	exon1			GCAGCCACCGCAT																												ENST00000329451.3:c.7T>C	11.37:g.560710A>G	ENSP00000331167:p.Trp3Arg	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_173573	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329451.3	37	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733365	0.48939	0.001724	0.004804	ENSG00000185522	ENST00000329451	T	0.47177	0.85	2.84	-5.68	0.02436	.	2.983990	0.01494	N	0.017215	T	0.28532	0.0706	N	0.19112	0.55	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.87932	D	0	.	2.3052	0.04173	0.5472:0.1407:0.1709:0.1412	.	3	Q8IXW0	CK035_HUMAN	R	3	ENSP00000331167:W3R	ENSP00000331167:W3R	W	-	1	0	C11orf35	550710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.191000	0.01246	-1.245000	0.02513	-1.262000	0.01453	TGG	.		0.736	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			G	560710	A	G	560710	3	3	28	1	0	0	0	0	1	0	0	0	1643	159	6	4	1953	4	C11orf35	11	560710	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10		560710	134445806	136	5090											
DCDC1	341019	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	31349747	31349747	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggctactttgctgtaaTacttccattgcttcagtcaa	7	10	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:31349747T>C	ENST00000452803.1	-	3	282	c.81A>G	c.(79-81)gtA>gtG	p.V27V	DCDC1_ENST00000597505.1_Silent_p.V27V	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	27					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTGCTGTAATACTTCCATTG	0.358																																					p.V27V		.											.	DCDC1-91	0			c.A81G						.						111	102	105					11																	31349747		2202	4299	6501	SO:0001819	synonymous_variant	341019	exon3			CTGTAATACTTCC	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.81A>G	11.37:g.31349747T>C		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	50	6	NM_181807	0	0	0	0	0	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000452803.1	37	CCDS7872.1																																																																																			.		0.358	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		C	31349747	T	C	31349747	2	2	28	1	0	0	0	0	0	0	0	1	4293	1393	49	4		4	DCDC1	11	31349747	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	30789037	31349747	103656769	137	5091											
OR4C11	219429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55371204	55371204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcaagatgacaatatAtgaaattatcaaaatcatga	6	4	2	5			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:55371204A>G	ENST00000302231.4	-	1	670	c.646T>C	c.(646-648)Tat>Cat	p.Y216H		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	216						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(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGACAATATATGAAATTATC	0.403																																					p.Y216H		.											.	OR4C11-69	0			c.T646C						.						78	68	72					11																	55371204		2176	4004	6180	SO:0001583	missense	219429	exon1			CAATATATGAAAT	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.646T>C	11.37:g.55371204A>G	ENSP00000306651:p.Tyr216His	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	95	35	NM_001004700	0	0	0	0	0	B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743715	0.30865	.	.	ENSG00000172188	ENST00000302231	T	0.00515	6.87	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000473	T	0.03651	0.0104	H	0.98333	4.205	0.22989	N	0.998468	D	0.89917	1.0	D	0.76071	0.987	T	0.17837	-1.0356	10	0.87932	D	0	.	12.7832	0.57489	1.0:0.0:0.0:0.0	.	216	Q6IEV9	OR4CB_HUMAN	H	216	ENSP00000306651:Y216H	ENSP00000306651:Y216H	Y	-	1	0	OR4C11	55127780	1.000000	0.71417	0.058000	0.19502	0.011000	0.07611	7.445000	0.80570	1.962000	0.57031	0.391000	0.25812	TAT	.		0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		G	55371204	A	G	55371204	3	3	28	1	0	0	0	0	1	0	0	0	11084	449	16	4	288	4	OR4C11	11	55371204	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	24021457	55371204	79635312	138	5092											
CD248	57124	broad.mit.edu;bcgsc.ca	37	chr11	66084195	66084195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtggtccacgtgaagcCgcgcagtgggcgctgcagct	15	14	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:66084195C>T	ENST00000311330.3	-	1	320	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CACGTGAAGCCGCGCAGTGGG	0.726																																					p.G102S		.											.	CD248-154	0			c.G304A						.						24	24	24					11																	66084195		2132	4198	6330	SO:0001583	missense	57124	exon1			TGAAGCCGCGCAG	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.304G>A	11.37:g.66084195C>T	ENSP00000308117:p.Gly102Ser	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	49	8	NM_020404	0	0	1	1	0	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700617	0.88924	.	.	ENSG00000174807	ENST00000311330	T	0.16897	2.31	3.96	3.96	0.45880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	U	0.000001	T	0.28134	0.0694	N	0.25380	0.74	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.06058	-1.0848	10	0.72032	D	0.01	-17.8428	13.5165	0.61543	0.0:1.0:0.0:0.0	.	102	Q9HCU0	CD248_HUMAN	S	102	ENSP00000308117:G102S	ENSP00000308117:G102S	G	-	1	0	CD248	65840771	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	6.766000	0.74970	2.033000	0.60031	0.491000	0.48974	GGC	.		0.726	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		T	66084195	C	T	66084195	3	4	28	1	0	0	0	0	1	0	0	0	2996	652	23	1	1973	1	CD248	11	66084195	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	10712991	66084195	68922321	139	5093											
RAB6A	5870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73441848	73441848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtcatacatgaatctggTgatcaaagatgtctttccaa	7	8	4	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:73441848T>C	ENST00000336083.3	-	2	546	c.91A>G	c.(91-93)Acc>Gcc	p.T31A	RAB6A_ENST00000541588.1_Missense_Mutation_p.T31A|RAB6A_ENST00000536566.1_5'UTR|RAB6A_ENST00000310653.6_Missense_Mutation_p.T31A	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	31					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						ATGAATCTGGTGATCAAAGAT	0.308																																					p.T31A		.											.	RAB6A-227	0			c.A91G						.						104	105	105					11																	73441848		2200	4293	6493	SO:0001583	missense	5870	exon2			ATCTGGTGATCAA	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.91A>G	11.37:g.73441848T>C	ENSP00000336850:p.Thr31Ala	Somatic	226	0		WXS	Illumina GAIIx	Phase_I	227	60	NM_002869	0	0	4	9	5	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	ENST00000336083.3	37	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109517	0.77096	.	.	ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.02	4.59	4.59	0.56863	Small GTP-binding protein domain (1);	0.048311	0.85682	D	0.000000	T	0.81019	0.4736	N	0.17764	0.52	0.80722	D	1	D;D;B;B	0.76494	0.971;0.999;0.032;0.104	D;D;B;B	0.80764	0.93;0.994;0.141;0.122	T	0.82208	-0.0571	10	0.52906	T	0.07	.	11.4519	0.50158	0.0:0.0:0.0:1.0	.	31;31;31;31	Q1W5D8;F5H3K7;P20340;P20340-2	.;.;RAB6A_HUMAN;.	A	31	ENSP00000311449:T31A;ENSP00000336850:T31A;ENSP00000445350:T31A;ENSP00000438842:T31A	ENSP00000311449:T31A	T	-	1	0	RAB6A	73119496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.411000	0.73298	1.927000	0.55829	0.455000	0.32223	ACC	.		0.308	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			C	73441848	T	C	73441848	3	2	28	1	0	0	0	0	1	0	0	0	12996	1696	59	4	673	4	RAB6A	11	73441848	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	7357653	73441848	61564668	140	5094											
TAF1D	79101	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	93471576	93471576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacactttcaggtgtacgaAcaaattttcgaatggggttt	10	6	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:93471576A>C	ENST00000448108.2	-	3	808	c.158T>G	c.(157-159)gTt>gGt	p.V53G	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	53					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						AGGTGTACGAACAAATTTTCG	0.353																																					p.V53G		.											.	TAF1D-90	0			c.T158G						.						75	77	76					11																	93471576		2201	4298	6499	SO:0001583	missense	79101	exon3			GTACGAACAAATT		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.158T>G	11.37:g.93471576A>C	ENSP00000410409:p.Val53Gly	Somatic	69	1		WXS	Illumina GAIIx	Phase_I	79	42	NM_024116	0	0	23	45	22	Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.357|2.357	-0.347403|-0.347403	0.05208|0.05208	.|.	.|.	ENSG00000166012|ENSG00000166012	ENST00000532455|ENST00000448108	.|.	.|.	.|.	5.04|5.04	2.73|2.73	0.32206|0.32206	.|.	.|0.737545	.|0.12807	.|N	.|0.437466	T|T	0.35480|0.35480	0.0933|0.0933	L|L	0.34521|0.34521	1.04|1.04	0.18873|0.18873	N|N	0.999982|0.999982	.|D	.|0.55605	.|0.972	.|P	.|0.52159	.|0.691	T|T	0.13019|0.13019	-1.0525|-1.0525	5|9	.|0.66056	.|D	.|0.02	-17.0302|-17.0302	6.4523|6.4523	0.21910|0.21910	0.8034:0.0:0.1966:0.0|0.8034:0.0:0.1966:0.0	.|.	.|53	.|Q9H5J8	.|TAF1D_HUMAN	W|G	88|53	.|.	.|ENSP00000314971:V53G	C|V	-|-	3|2	2|0	TAF1D|TAF1D	93111224|93111224	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.505000|0.505000	0.22642|0.22642	0.366000|0.366000	0.24427|0.24427	0.482000|0.482000	0.46254|0.46254	TGT|GTT	.		0.353	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		C	93471576	A	C	93471576	3	2	28	1	0	0	0	0	1	0	0	0	15569	43	2	5	694	5	TAF1D	11	93471576	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	20029728	93471576	41534940	141	5095											
MRE11A	4361	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	94201026	94201026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagaattacccagacGttcccgttcagcattttcaa	8	11	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr11:94201026G>A	ENST00000323929.3	-	10	1273	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	MRE11A_ENST00000407439.3_Missense_Mutation_p.R354C|MRE11A_ENST00000393241.4_Missense_Mutation_p.R351C|MIR548L_ENST00000408303.1_RNA|MRE11A_ENST00000323977.3_Missense_Mutation_p.R351C	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	351					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTACCCAGACGTTCCCGTTCA	0.338								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.R351C		.											.	MRE11A-722	0			c.C1051T						.						86	89	88					11																	94201026		2201	4298	6499	SO:0001583	missense	4361	exon10	Familial Cancer Database	ATLD	CCAGACGTTCCCG	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1051C>T	11.37:g.94201026G>A	ENSP00000325863:p.Arg351Cys	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	139	28	NM_005591	0	0	10	11	1	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238517	0.79800	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	6.06	6.06	0.98353	Mre11, DNA-binding (1);	0.043745	0.85682	D	0.000000	D	0.87537	0.6202	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	P;P;D	0.67548	0.896;0.756;0.952	D	0.84911	0.0848	10	0.38643	T	0.18	-14.8308	20.6208	0.99490	0.0:0.0:1.0:0.0	.	354;351;351	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	C	351;354;351;351	ENSP00000325863:R351C;ENSP00000385614:R354C;ENSP00000326094:R351C;ENSP00000376933:R351C	ENSP00000325863:R351C	R	-	1	0	MRE11A	93840674	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.062000	0.57492	2.882000	0.98803	0.655000	0.94253	CGT	.		0.338	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		A	94201026	G	A	94201026	3	1	28	1	0	0	0	0	1	0	0	0	9797	1145	40	1	1119	1	MRE11A	11	94201026	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	729450	94201026	40805490	142	5096											
VWF	7450	broad.mit.edu;bcgsc.ca	37	chr12	6128740	6128740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcctggaggagccatccaGcaggaagaccaggtccagta	13	12	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:6128740G>C	ENST00000261405.5	-	28	4098	c.3844C>G	c.(3844-3846)Ctg>Gtg	p.L1282V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1282	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGCCATCCAGCAGGAAGACC	0.597																																					p.L1282V		.											.	VWF-163	0			c.C3844G						.						77	75	76					12																	6128740		2203	4300	6503	SO:0001583	missense	7450	exon28			CATCCAGCAGGAA		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.3844C>G	12.37:g.6128740G>C	ENSP00000261405:p.Leu1282Val	Somatic	241	0		WXS	Illumina GAIIx	Phase_I	221	9	NM_000552	0	0	8	8	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.296104	0.40594	.	.	ENSG00000110799	ENST00000261405	D	0.98329	-4.87	5.15	4.24	0.50183	von Willebrand factor, type A (3);	0.000000	0.34777	N	0.003697	D	0.98639	0.9544	M	0.91249	3.19	0.80722	D	1	D	0.61697	0.99	D	0.79108	0.992	D	0.97350	0.9963	10	0.26408	T	0.33	.	4.4509	0.11619	0.0821:0.2539:0.5228:0.1412	.	1282	P04275	VWF_HUMAN	V	1282	ENSP00000261405:L1282V	ENSP00000261405:L1282V	L	-	1	2	VWF	5999001	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.706000	0.25690	2.688000	0.91661	0.555000	0.69702	CTG	.		0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6128740	G	C	6128740	3	2	28	1	0	0	0	0	1	0	0	0	17295	962	34	3	4697	3	VWF	12	6128740	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		6128740	127723155	143	5097											
C12orf57	113246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	7053766	7053766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgctgcccgtggccacgcaGatccagcaggaggttatcaa	13	12	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:7053766G>T	ENST00000229281.5	+	2	279	c.180G>T	c.(178-180)caG>caT	p.Q60H	C12orf57_ENST00000540506.2_Missense_Mutation_p.Q25H|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000447931.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000544681.1_Missense_Mutation_p.Q60H|C12orf57_ENST00000537087.1_Intron|PTPN6_ENST00000399448.1_5'Flank|C12orf57_ENST00000542222.1_3'UTR	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	60						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						TGGCCACGCAGATCCAGCAGG	0.627											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q60H		.											.	C12orf57-90	0			c.G180T						.						82	65	71					12																	7053766		2203	4300	6503	SO:0001583	missense	113246	exon2			CACGCAGATCCAG	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.180G>T	12.37:g.7053766G>T	ENSP00000229281:p.Gln60His	Somatic	248	0	638	WXS	Illumina GAIIx	Phase_I	358	93	NM_138425	0	0	171	193	22	B2R4Q6	Missense_Mutation	SNP	ENST00000229281.5	37	CCDS8571.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037762	0.93630	.	.	ENSG00000111678	ENST00000545581;ENST00000229281	T;T	0.79940	-1.32;-1.32	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.88406	0.3018	10	0.87932	D	0	-14.1499	14.5671	0.68185	0.0:0.0:1.0:0.0	.	60	Q99622	C10_HUMAN	H	60	ENSP00000440602:Q60H;ENSP00000229281:Q60H	ENSP00000229281:Q60H	Q	+	3	2	C12orf57	6924027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.006000	0.63978	2.373000	0.80994	0.561000	0.74099	CAG	.		0.627	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		T	7053766	G	T	7053766	3	4	28	1	0	0	0	0	1	0	0	0	1706	933	33	3	186	3	C12orf57	12	7053766	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	925026	7053766	126798129	144	5098											
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	18491453	18491453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagatgcagtaaatgaaCtaagtctaattcttcagaga	7	6	3	3	rs531110246		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:18491453C>T	ENST00000266497.5	+	8	1404	c.1366C>T	c.(1366-1368)Cta>Tta	p.L456L	PIK3C2G_ENST00000535651.1_Silent_p.L456L|PIK3C2G_ENST00000433979.1_Silent_p.L456L|PIK3C2G_ENST00000538779.1_Silent_p.L456L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	456	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)				AGTAAATGAACTAAGTCTAAT	0.313																																					p.L456L		.											.	PIK3C2G-1312	0			c.C1366T						.						133	132	132					12																	18491453		1847	4088	5935	SO:0001819	synonymous_variant	5288	exon9			AATGAACTAAGTC	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.1366C>T	12.37:g.18491453C>T		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	139	29	NM_004570	0	0	0	0	0	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			.		0.313	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18491453	C	T	18491453	2	4	28	1	0	0	0	0	0	0	0	1	11950	564	20	3		3	PIK3C2G	12	18491453	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	11437687	18491453	115360442	145	5099											
SLCO1C1	53919	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	20864373	20864373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactctcagcatctctcCgtgtctcctagagtcaagca	6	15	4	1	rs181627657		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:20864373C>T	ENST00000266509.2	+	5	826	c.458C>T	c.(457-459)cCg>cTg	p.P153L	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P35L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P153L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P153L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P153L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	153					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P153L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AGCATCTCTCCGTGTCTCCTA	0.353													C|||	1	0.000199681	0	0.0014	5008	,	,		19515	0		0	False		,,,				2504	0				p.P153L		.											.	SLCO1C1-97	1	Substitution - Missense(1)	large_intestine(1)	c.C458T						.						140	135	137					12																	20864373		2203	4300	6503	SO:0001583	missense	53919	exon5			TCTCTCCGTGTCT	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.458C>T	12.37:g.20864373C>T	ENSP00000266509:p.Pro153Leu	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	109	36	NM_017435	0	0	0	0	0	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.50	1.367369	0.24771	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.56776	1.16;0.44;1.16;1.16;1.16	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.229512	0.26026	N	0.026784	T	0.49440	0.1557	N	0.04705	-0.18	0.58432	D	0.999999	D;D;B;B	0.89917	1.0;1.0;0.361;0.201	D;D;B;B	0.74674	0.973;0.984;0.252;0.076	T	0.49925	-0.8887	10	0.19590	T	0.45	.	15.3566	0.74431	0.0:1.0:0.0:0.0	.	35;153;153;153	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	L	153;153;153;153;35	ENSP00000444149:P153L;ENSP00000438665:P153L;ENSP00000266509:P153L;ENSP00000370964:P153L;ENSP00000444527:P35L	ENSP00000266509:P153L	P	+	2	0	SLCO1C1	20755640	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	3.491000	0.53252	2.270000	0.75569	0.655000	0.94253	CCG	C|0.999;T|0.000		0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20864373	C	T	20864373	3	4	28	1	0	0	0	0	1	0	0	0	14770	652	23	1	472	1	SLCO1C1	12	20864373	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2372920	20864373	112987522	146	5100											
ATF1	466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	51207830	51207830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccttacagttggcaagTccaggcacagatggagtaca	13	9	0	1	rs186674535		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:51207830T>C	ENST00000262053.3	+	5	388	c.366T>C	c.(364-366)agT>agC	p.S122S	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	122					cellular protein complex assembly (GO:0043623)|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 DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGTTGGCAAGTCCAGGCACAG	0.408			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																p.S122S		.		Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	.	ATF1-685	0			c.T366C						.						84	78	80					12																	51207830		2203	4300	6503	SO:0001819	synonymous_variant	466	exon5			GGCAAGTCCAGGC	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.366T>C	12.37:g.51207830T>C		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	302	75	NM_005171	0	0	25	32	7	B4DRF9|P25168|Q9H4A8	Silent	SNP	ENST00000262053.3	37	CCDS8803.1																																																																																			T|0.999;G|0.000		0.408	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		C	51207830	T	C	51207830	2	2	28	1	0	0	0	0	0	0	0	1	1080	1664	58	4		4	ATF1	12	51207830	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	30343457	51207830	82644065	147	5101											
OR6C2	341416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	55846356	55846356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgtcctatgaccGctatgtggccatctgtaaac	10	12	1	1	rs187562104		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:55846356G>A	ENST00000322678.1	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_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	120					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCCTATGACCGCTATGTGGCC	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		21431	0		0	False		,,,				2504	0				p.R120H		.											.	OR6C2-70	0			c.G359A						.						154	135	141					12																	55846356		2203	4300	6503	SO:0001583	missense	341416	exon1			ATGACCGCTATGT	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.359G>A	12.37:g.55846356G>A	ENSP00000323606:p.Arg120His	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	103	19	NM_054105	0	0	0	0	0		Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.21	3.331462	0.60853	.	.	ENSG00000179695	ENST00000322678	T	0.77489	-1.1	5.42	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.204155	0.35067	N	0.003465	T	0.77363	0.4119	M	0.92169	3.28	0.30192	N	0.799431	P	0.45240	0.854	B	0.32624	0.149	T	0.77305	-0.2637	10	0.66056	D	0.02	.	9.7821	0.40653	0.2256:0.0:0.7744:0.0	.	120	Q9NZP2	OR6C2_HUMAN	H	120	ENSP00000323606:R120H	ENSP00000323606:R120H	R	+	2	0	OR6C2	54132623	0.986000	0.35501	0.995000	0.50966	0.916000	0.54674	4.236000	0.58675	0.427000	0.26145	0.609000	0.83330	CGC	G|0.999;A|0.001		0.428	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		A	55846356	G	A	55846356	3	1	28	1	0	0	0	0	1	0	0	0	11230	1087	38	1	361	1	OR6C2	12	55846356	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	4638526	55846356	78005539	148	5102											
OBFC2B	79035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	56622965	56622965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccctgttagtaacGgcaaagaaacccggaggagc	11	12	0	1	rs371882558		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:56622965G>A	ENST00000380198.2	+	6	1102	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.G202S|SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.G202S			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	202					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TGTTAGTAACGGCAAAGAAAC	0.572																																					p.G202S		.											.	.	0			c.G604A						.						69	64	66					12																	56622965		2203	4300	6503	SO:0001583	missense	79035	exon7			AGTAACGGCAAAG	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.604G>A	12.37:g.56622965G>A	ENSP00000369545:p.Gly202Ser	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	155	20	NM_024068	0	0	29	38	9	A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009789	0.75046	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.70631	-0.5;-0.5;-0.5	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	T	0.81302	0.4794	L	0.59436	1.845	0.48395	D	0.999643	D	0.89917	1.0	D	0.76071	0.987	T	0.79827	-0.1639	9	.	.	.	-8.668	16.4418	0.83903	0.0:0.0:1.0:0.0	.	202	Q9BQ15	SOSB1_HUMAN	S	202	ENSP00000267023:G202S;ENSP00000369545:G202S;ENSP00000368862:G202S	.	G	+	1	0	OBFC2B	54909232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.710000	0.92621	0.655000	0.94253	GGC	.		0.572	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		A	56622965	G	A	56622965	3	1	28	1	0	0	0	0	1	0	0	0	10848	1116	39	1	626	1	OBFC2B	12	56622965	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	776609	56622965	77228930	149	5103											
AVPR1A	552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	63544072	63544072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgaagtactgcggcgtgCtcagcacgaagctcagcacc	12	13	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:63544072C>A	ENST00000299178.2	-	1	650	c.545G>T	c.(544-546)aGc>aTc	p.S182I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	182					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGCGGCGTGCTCAGCACGAA	0.652																																					p.S182I		.											.	AVPR1A-946	0			c.G545T						.						52	54	53					12																	63544072		2202	4299	6501	SO:0001583	missense	552	exon1			GGCGTGCTCAGCA	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.545G>T	12.37:g.63544072C>A	ENSP00000299178:p.Ser182Ile	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	282	59	NM_000706	0	0	0	0	0		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170900	0.78452	.	.	ENSG00000166148	ENST00000299178	T	0.44482	0.92	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	9	.	.	.	-34.6864	17.7032	0.88301	0.0:1.0:0.0:0.0	.	182	P37288	V1AR_HUMAN	I	182	ENSP00000299178:S182I	.	S	-	2	0	AVPR1A	61830339	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	5.912000	0.69948	2.416000	0.81992	0.455000	0.32223	AGC	.		0.652	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			A	63544072	C	A	63544072	3	1	28	1	0	0	0	0	1	0	0	0	1232	797	28	3	719	3	AVPR1A	12	63544072	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	6921107	63544072	70307823	150	5104											
LLPH	84298	broad.mit.edu	37	chr12	66517671	66517671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgctttgcttttcccCtttcttttctctcgctttgc	5	13	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:66517671C>T	ENST00000266604.2	-	3	409	c.339G>A	c.(337-339)aaG>aaA	p.K113K	LLPH_ENST00000446587.2_Silent_p.K113K	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	113	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGCTTTTCCCCTTTCTTTTCT	0.428																																					p.K113K		.											.	LLPH-514	0			c.G339A						.						255	224	235					12																	66517671		2203	4300	6503	SO:0001819	synonymous_variant	84298	exon3			TTTCCCCTTTCTT	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.339G>A	12.37:g.66517671C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	135	5	NM_032338	0	0	258	273	15	Q3B766	Silent	SNP	ENST00000266604.2	37	CCDS8974.1																																																																																			.		0.428	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		T	66517671	C	T	66517671	2	4	28	1	0	0	0	0	0	0	0	1	8865	680	24	3		3	LLPH	12	66517671	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2973599	66517671	67334224	151	5105											
HCFC2	29915	hgsc.bcm.edu;bcgsc.ca	37	chr12	104459979	104459990	+	In_Frame_Del	DEL	AGATATCCCTCC	AGATATCCCTCC	-													tttctgccagctgttagaggAgatatccctccaggctgtgc							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	AGATATCCCTCC	AGATATCCCTCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:104459979_104459990delAGATATCCCTCC	ENST00000229330.4	+	2	302_313	c.198_209delAGATATCCCTCC	c.(196-210)ggagatatccctcca>gga	p.DIPP67del	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	67					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTGTTAGAGGAGATATCCCTCCAGGCTGTGCT	0.387																																					p.66_70del	Esophageal Squamous(184;1814 2036 4771 6974 15702)	.											.	HCFC2-92	0			c.198_209del						.																																			SO:0001651	inframe_deletion	29915	exon2			TAGAGGAGATATC	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.198_209delAGATATCCCTCC	12.37:g.104459979_104459990delAGATATCCCTCC	ENSP00000229330:p.Asp67_Pro70del	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	134	5	NM_013320	0	0	0	0	0	B2R8Q5|C0H5X3	In_Frame_Del	DEL	ENST00000229330.4	37	CCDS9097.1																																																																																			.		0.387	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		-	104459990	AGATATCCCTCC	-	104459979	7	5	28	1	0	1	0	1	0	0	0	0	7020	291	11	0	204	0	HCFC2	12	104459979	In_Frame_Del	DEL	AGATATCCCTCC	TCGA-OR-A5K5-01A-11D-A29I-10	37942308	104459979	29391916	152	5106											
C12orf34	84915	hgsc.bcm.edu	37	chr12	110206245	110206245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcctgctccaccacccGgcctgcccgcagccgccact	10	22	0	0	rs201640109		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr12:110206245G>A	ENST00000538780.1	+	3	1227	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	FAM222A_ENST00000358906.3_Missense_Mutation_p.G171S|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	171	Pro-rich.																TCCACCACCCGGCCTGCCCGC	0.726																																					p.G171S		.											.	.	0			c.G511A						.	G	SER/GLY	1,4235		0,1,2117	9	11	11		511	-4.5	0.5	12		11	11,8239		0,11,4114	yes	missense	C12orf34	NM_032829.2	56	0,12,6231	AA,AG,GG		0.1333,0.0236,0.0961	benign	171/453	110206245	12,12474	2118	4125	6243	SO:0001583	missense	84915	exon3			CCACCCGGCCTGC	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.511G>A	12.37:g.110206245G>A	ENSP00000443292:p.Gly171Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	30	18	NM_032829	0	0	8	16	8	Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043398	0.07452	2.36E-4	0.001333	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.28895	1.59;1.59	3.68	-4.48	0.03515	.	0.267927	0.40064	N	0.001185	T	0.12390	0.0301	N	0.22421	0.69	0.22240	N	0.999261	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.07325	T	0.83	-7.7634	7.5383	0.27723	0.5651:0.0:0.4349:0.0	.	171	Q5U5X8	CL034_HUMAN	S	171	ENSP00000443292:G171S;ENSP00000351783:G171S	ENSP00000351783:G171S	G	+	1	0	C12orf34	108690628	0.461000	0.25783	0.535000	0.28026	0.693000	0.40251	1.087000	0.30865	-0.237000	0.09739	-0.948000	0.02665	GGC	.		0.726	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		A	110206245	G	A	110206245	3	1	28	1	0	0	0	0	1	0	0	0	1686	1116	39	1	517	1	C12orf34	12	110206245	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	5746266	110206245	23645650	153	5107											
GAS6	2621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	114529971	114529971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagagccaagacttactgTagtccaggctgtagaaggcg	13	8	0	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr13:114529971T>C	ENST00000327773.6	-	12	1621	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	GAS6_ENST00000450766.1_Missense_Mutation_p.Y219C|GAS6_ENST00000355761.4_Missense_Mutation_p.Y438C|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.Y535C|GAS6_ENST00000418959.3_Missense_Mutation_p.Y193C	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	535	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGACTTACTGTAGTCCAGGCT	0.577																																					p.Y492C		.											.	GAS6-650	0			c.A1475G						.						105	84	91					13																	114529971		2203	4298	6501	SO:0001583	missense	2621	exon12			TTACTGTAGTCCA		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1475A>G	13.37:g.114529971T>C	ENSP00000331831:p.Tyr492Cys	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	125	53	NM_000820	0	0	0	0	0	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511576	0.44660	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.91355	0.7273	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	D	0.92764	0.6226	9	0.87932	D	0	-33.722	13.9043	0.63823	0.0:0.0:0.0:1.0	.	535;219;492	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	C	535;438;219;193;492	ENSP00000349962:Y535C;ENSP00000348003:Y438C;ENSP00000416498:Y219C;ENSP00000400117:Y193C;ENSP00000331831:Y492C	ENSP00000331831:Y492C	Y	-	2	0	GAS6	113583972	1.000000	0.71417	0.014000	0.15608	0.126000	0.20510	5.347000	0.65998	1.686000	0.51046	0.379000	0.24179	TAC	.		0.577	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		C	114529971	T	C	114529971	3	2	28	1	0	0	0	0	1	0	0	0	6274	1638	57	4	577	4	GAS6	13	114529971	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		114529971	639907	154	5108											
EFS	10278	bcgsc.ca	37	chr14	23834217	23834217	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactccctggtggactcacCgacgtggcaatggccatggc	12	15	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:23834217C>T	ENST00000216733.3	-	1	625	c.18G>A	c.(16-18)tcG>tcA	p.S6S	EFS_ENST00000351354.3_Splice_Site_p.S6S|EFS_ENST00000429593.2_Splice_Site_p.S6S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	6	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GTGGACTCACCGACGTGGCAA	0.647																																					p.S6S		.											.	EFS-153	0			c.G18A						.						34	30	31					14																	23834217		2196	4291	6487	SO:0001630	splice_region_variant	10278	exon1			ACTCACCGACGTG	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.18+1G>A	14.37:g.23834217C>T		Somatic	198	4		WXS	Illumina GAIIx	Phase_I	186	70	NM_032459	0	0	0	0	0	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	CCDS9595.1																																																																																			.		0.647	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2		Silent	T	23834217	C	T	23834217	5	4	28	1	0	0	0	0	0	0	1	0	4973	666	23	1	1691	1	EFS	14	23834217	Splice_Site	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10		23834217	83515323	155	5109											
PCK2	5106	ucsc.edu	37	chr14	24568382	24568382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctgggcaagaagtgCtttgccctacgcatcgcctc	10	15	0	1	rs200826292		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:24568382C>T	ENST00000216780.4	+	5	1057	c.789C>T	c.(787-789)tgC>tgT	p.C263C	NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Silent_p.C129C|PCK2_ENST00000396973.4_Silent_p.C263C|PCK2_ENST00000561286.1_Silent_p.C129C|PCK2_ENST00000559250.1_Silent_p.C275C|PCK2_ENST00000558096.1_Silent_p.C129C	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	263					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCAAGAAGTGCTTTGCCCTAC	0.647																																					p.C263C		.											.	PCK2-227	0			c.C789T						.						57	52	54					14																	24568382		2203	4300	6503	SO:0001819	synonymous_variant	5106	exon5			GAAGTGCTTTGCC	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.789C>T	14.37:g.24568382C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_004563	0	0	24	24	0	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																			C|0.999;T|0.001		0.647	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		T	24568382	C	T	24568382	2	4	28	1	0	0	0	0	0	0	0	1	11621	805	28	3		3	PCK2	14	24568382	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	734165	24568382	82781158	156	5110											
NPAS3	64067	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	33684463	33684463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaactttgagttctaTgaattggccaagttgttgcc	9	6	1	3	rs138614075		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:33684463T>C	ENST00000356141.4	+	3	216	c.216T>C	c.(214-216)taT>taC	p.Y72Y	NPAS3_ENST00000346562.2_Silent_p.Y42Y|NPAS3_ENST00000551492.1_Silent_p.Y79Y|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000548645.1_Silent_p.Y42Y|NPAS3_ENST00000357798.5_Silent_p.Y42Y|NPAS3_ENST00000341321.4_Silent_p.Y72Y|NPAS3_ENST00000551008.1_5'UTR			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	72	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTGAGTTCTATGAATTGGCCA	0.458																																					p.Y72Y		.											.	NPAS3-93	0			c.T216C						.	T	,,,	0,4406		0,0,2203	92	94	93		216,126,126,126	3.6	1	14	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,	72/934,42/904,42/902,42/921	33684463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64067	exon3			GTTCTATGAATTG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.216T>C	14.37:g.33684463T>C		Somatic	141	1		WXS	Illumina GAIIx	Phase_I	97	30	NM_001164749	0	0	0	0	0	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																			T|1.000;C|0.000		0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			C	33684463	T	C	33684463	2	2	28	1	0	0	0	0	0	0	0	1	10603	1471	51	4		4	NPAS3	14	33684463	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	9116081	33684463	73665077	157	5111											
ARID4A	5926	broad.mit.edu	37	chr14	58831394	58831394	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacggaaaatactaggacaaTcatcgccagagaaaaaaata	7	7	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:58831394T>A	ENST00000355431.3	+	20	2960	c.2587T>A	c.(2587-2589)Tca>Aca	p.S863T	ARID4A_ENST00000431317.2_Missense_Mutation_p.S863T|ARID4A_ENST00000348476.3_Missense_Mutation_p.S863T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S863T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	863					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTAGGACAATCATCGCCAGA	0.333																																					p.S863T		.											.	ARID4A-231	0			c.T2587A						.						52	49	50					14																	58831394		2203	4300	6503	SO:0001583	missense	5926	exon20			GGACAATCATCGC	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2587T>A	14.37:g.58831394T>A	ENSP00000347602:p.Ser863Thr	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	104	3	NM_002892	0	0	3	3	0	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	9.651	1.141510	0.21205	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14893	2.51;2.51;2.5;2.51;2.47	6.02	4.88	0.63580	.	0.673742	0.15093	N	0.280965	T	0.13543	0.0328	L	0.43152	1.355	0.22648	N	0.998893	B;B;B	0.26547	0.152;0.094;0.152	B;B;B	0.28011	0.074;0.039;0.085	T	0.35201	-0.9798	10	0.08179	T	0.78	-0.298	8.2189	0.31530	0.0:0.0728:0.1437:0.7835	.	863;863;863	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	863;863;863;863;541	ENSP00000347602:S863T;ENSP00000344556:S863T;ENSP00000378597:S863T;ENSP00000397368:S863T;ENSP00000416053:S541T	ENSP00000344556:S863T	S	+	1	0	ARID4A	57901147	0.850000	0.29656	0.995000	0.50966	0.985000	0.73830	1.159000	0.31749	1.112000	0.41740	0.528000	0.53228	TCA	.		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		A	58831394	T	A	58831394	3	1	28	1	0	0	0	0	1	0	0	0	919	1435	50	5	2661	5	ARID4A	14	58831394	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	25146931	58831394	48518146	158	5112											
PAPLN	89932	broad.mit.edu	37	chr14	73712814	73712814	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgcccgggacttccgggccGagcagtgcgcggagttcgac	17	14	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:73712814G>T	ENST00000554301.1	+	4	428	c.265G>T	c.(265-267)Gag>Tag	p.E89*	PAPLN_ENST00000381166.3_Nonsense_Mutation_p.E89*|PAPLN_ENST00000555445.1_Nonsense_Mutation_p.E89*|PAPLN_ENST00000340738.5_Nonsense_Mutation_p.E89*|RP4-647C14.2_ENST00000554614.1_RNA|PAPLN_ENST00000427855.1_Nonsense_Mutation_p.E89*|RNU6-419P_ENST00000517030.1_RNA			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	89						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTCCGGGCCGAGCAGTGCGC	0.751																																					p.E89X		.											.	PAPLN-70	0			c.G265T						.						8	10	10					14																	73712814		2171	4260	6431	SO:0001587	stop_gained	89932	exon5			CGGGCCGAGCAGT	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.265G>T	14.37:g.73712814G>T	ENSP00000451803:p.Glu89*	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	105	6	NM_173462	0	0	0	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Nonsense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.120561	0.97300	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000394134;ENST00000554301;ENST00000555445	.	.	.	4.07	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.3082	0.60365	0.0:0.2958:0.7041:0.0	.	.	.	.	X	89	.	ENSP00000216658:E89X	E	+	1	0	PAPLN	72782567	1.000000	0.71417	0.945000	0.38365	0.773000	0.43773	3.798000	0.55522	0.330000	0.23485	0.462000	0.41574	GAG	.		0.751	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		T	73712814	G	T	73712814	4	4	28	1	0	0	0	0	0	1	0	0	11467	1059	37	2	279	2	PAPLN	14	73712814	Nonsense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	14881420	73712814	33636726	159	5113											
ABCD4	5826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	74763089	74763089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacggggagatgatgagCttgctggccatgctgctgag	17	7	0	5			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:74763089C>A	ENST00000356924.4	-	5	632	c.489G>T	c.(487-489)aaG>aaT	p.K163N	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557588.1_Missense_Mutation_p.K163N|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.K76N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	163	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGATGATGAGCTTGCTGGCCA	0.612																																					p.K163N		.											.	ABCD4-292	0			c.G489T						.						117	95	103					14																	74763089		2203	4300	6503	SO:0001583	missense	5826	exon5			GATGAGCTTGCTG	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.489G>T	14.37:g.74763089C>A	ENSP00000349396:p.Lys163Asn	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	78	23	NM_005050	0	0	3	4	1	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.64|14.64	2.596964|2.596964	0.46318|0.46318	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99557|.	-6.16;-6.16;-6.16|.	4.82|4.82	1.99|1.99	0.26369|0.26369	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.400427|.	0.30455|.	N|.	0.009592|.	T|T	0.58061|0.58061	0.2096|0.2096	M|M	0.62723|0.62723	1.935|1.935	0.43021|0.43021	D|D	0.994579|0.994579	B;B;B|.	0.30914|.	0.119;0.3;0.16|.	B;B;B|.	0.36092|.	0.108;0.217;0.217|.	T|T	0.51671|0.51671	-0.8676|-0.8676	10|5	0.16420|.	T|.	0.52|.	.|.	5.7084|5.7084	0.17921|0.17921	0.0:0.6315:0.141:0.2275|0.0:0.6315:0.141:0.2275	.|.	76;163;163|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	N|I	163;76;163|123	ENSP00000349396:K163N;ENSP00000298816:K76N;ENSP00000451993:K163N|.	ENSP00000298816:K76N|.	K|S	-|-	3|2	2|0	ABCD4|ABCD4	73832842|73832842	0.999000|0.999000	0.42202|0.42202	0.984000|0.984000	0.44739|0.44739	0.694000|0.694000	0.40290|0.40290	0.697000|0.697000	0.25556|0.25556	0.232000|0.232000	0.21100|0.21100	-0.182000|-0.182000	0.12963|0.12963	AAG|AGC	.		0.612	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		A	74763089	C	A	74763089	3	1	28	1	0	0	0	0	1	0	0	0	63	796	28	3	1391	3	ABCD4	14	74763089	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	1050275	74763089	32586451	160	5114											
TMEM63C	57156	broad.mit.edu	37	chr14	77685876	77685876	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactccttcctccggaaagcTgcgtgggactatgggcgcct	12	13	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr14:77685876T>A	ENST00000298351.4	+	4	330	c.186T>A	c.(184-186)gcT>gcA	p.A62A	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	62					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCGGAAAGCTGCGTGGGACT	0.592																																					p.A62A		.											.	.	0			c.T186A						.						128	135	133					14																	77685876		2118	4233	6351	SO:0001819	synonymous_variant	57156	exon4			GAAAGCTGCGTGG		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.186T>A	14.37:g.77685876T>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	115	4	NM_020431	0	0	1	1	0	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																			.		0.592	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			A	77685876	T	A	77685876	2	1	28	1	0	0	0	0	0	0	0	1	16239	1567	55	5		5	TMEM63C	14	77685876	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	2922787	77685876	29663664	161	5115											
UNC13C	440279	broad.mit.edu	37	chr15	54586242	54586242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccttgagtggagaaaTggatgtctggtacaacttag	14	5	1	2	rs368603444		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr15:54586242T>A	ENST00000260323.11	+	10	3968	c.3968T>A	c.(3967-3969)aTg>aAg	p.M1323K	UNC13C_ENST00000545554.1_Missense_Mutation_p.M1323K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1321K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1323					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)		AGTGGAGAAATGGATGTCTGG	0.348																																					p.M1323K		.											.	UNC13C-51	0			c.T3968A						.						226	229	228					15																	54586242		1867	4099	5966	SO:0001583	missense	440279	exon9			GAGAAATGGATGT	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.3968T>A	15.37:g.54586242T>A	ENSP00000260323:p.Met1323Lys	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	73	4	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510114	0.85282	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.70164	-0.46;-0.46;-0.46	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.83483	2.645	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.70016	0.967;0.949	D	0.85215	0.1023	10	0.72032	D	0.01	.	15.5312	0.75964	0.0:0.0:0.0:1.0	.	1323;1323	F5H090;Q8NB66	.;UN13C_HUMAN	K	1323;1323;1321	ENSP00000260323:M1323K;ENSP00000438156:M1323K;ENSP00000442569:M1321K	ENSP00000260323:M1323K	M	+	2	0	UNC13C	52373534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.270000	0.75569	0.528000	0.53228	ATG	.		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54586242	T	A	54586242	3	1	28	1	0	0	0	0	1	0	0	0	17035	1464	51	5	4002	5	UNC13C	15	54586242	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		54586242	47945150	162	5116											
RORA	6095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	60797800	60797800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggcaggtttccagatgCgatttagatatattctgtgc	10	6	1	2	rs199818399		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr15:60797800C>T	ENST00000335670.6	-	6	949	c.849G>A	c.(847-849)tcG>tcA	p.S283S	RORA_ENST00000449337.2_Silent_p.S228S|RORA_ENST00000261523.5_Silent_p.S316S|RORA_ENST00000309157.4_Silent_p.S308S|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	283	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTTCCAGATGCGATTTAGATA	0.378													C|||	1	0.000199681	0	0	5008	,	,		18885	0		0	False		,,,				2504	0.001				p.S316S		.											.	RORA-290	0			c.G948A						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	126	130	128		924,948,849,684	-11.9	0.2	15		128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RORA	NM_002943.3,NM_134260.2,NM_134261.2,NM_134262.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	308/549,316/557,283/524,228/469	60797800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6095	exon7			CAGATGCGATTTA	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.849G>A	15.37:g.60797800C>T		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	99	31	NM_134260	0	0	12	18	6	P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	CCDS10177.1																																																																																			.		0.378	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			T	60797800	C	T	60797800	2	4	28	1	0	0	0	0	0	0	0	1	13573	755	27	1		1	RORA	15	60797800	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	6211558	60797800	41733592	163	5117											
IGDCC4	57722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65703500	65703500	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctagtggctgggacagccaCagggaaccattgggcagcag	16	10	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr15:65703500C>A	ENST00000352385.2	-	2	488	c.279G>T	c.(277-279)ctG>ctT	p.L93L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	93	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGACAGCCACAGGGAACCAT	0.642																																					p.L93L		.											.	IGDCC4-93	0			c.G279T						.						63	50	54					15																	65703500		2201	4299	6500	SO:0001819	synonymous_variant	57722	exon2			CAGCCACAGGGAA		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.279G>T	15.37:g.65703500C>A		Somatic	157	0		WXS	Illumina GAIIx	Phase_I	195	62	NM_020962	0	0	0	0	0	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																			.		0.642	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		A	65703500	C	A	65703500	2	1	28	1	0	0	0	0	0	0	0	1	7596	465	17	3		3	IGDCC4	15	65703500	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	4905700	65703500	36827892	164	5118											
SLC28A1	9154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	85438269	85438269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaccttcctgggccacCgcctgctgaaacggcttctg	9	17	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr15:85438269C>T	ENST00000286749.3	+	5	466	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SLC28A1_ENST00000338602.2_Missense_Mutation_p.R126C|SLC28A1_ENST00000537216.1_Missense_Mutation_p.R126C|SLC28A1_ENST00000538177.1_Missense_Mutation_p.R126C|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R126C|SLC28A1_ENST00000394573.1_Missense_Mutation_p.R126C|SLC28A1_ENST00000537703.1_Missense_Mutation_p.R48C			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	126					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCTGGGCCACCGCCTGCTGAA	0.612																																					p.R126C		.											.	SLC28A1-93	0			c.C376T						.						69	71	70					15																	85438269		2203	4299	6502	SO:0001583	missense	9154	exon6			GGCCACCGCCTGC	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.376C>T	15.37:g.85438269C>T	ENSP00000286749:p.Arg126Cys	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	151	40	NM_201651	0	0	0	0	0	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	5.731	0.319325	0.10845	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.34	-2.36	0.06663	.	0.634997	0.17722	N	0.164192	T	0.72137	0.3423	L	0.34521	1.04	0.09310	N	1	P;P;D;P;P;D	0.65815	0.877;0.951;0.995;0.951;0.738;0.99	B;P;P;B;B;P	0.51657	0.39;0.663;0.676;0.208;0.302;0.556	T	0.65442	-0.6167	10	0.52906	T	0.07	-13.694	5.3338	0.15947	0.4403:0.1715:0.3882:0.0	.	126;126;126;48;126;126	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	C	126;126;126;126;126;126;48	ENSP00000341629:R126C;ENSP00000440546:R126C;ENSP00000443752:R126C;ENSP00000444700:R126C;ENSP00000286749:R126C;ENSP00000378074:R126C;ENSP00000443764:R48C	ENSP00000286749:R126C	R	+	1	0	SLC28A1	83239273	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.314000	0.08092	-0.567000	0.06046	-1.193000	0.01689	CGC	.		0.612	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85438269	C	T	85438269	3	4	28	1	0	0	0	0	1	0	0	0	14576	652	23	1	390	1	SLC28A1	15	85438269	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	19734769	85438269	17093123	165	5119											
MSLN	10232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	818658	818658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgtagaggccctctcGgggacgccctgcctcctagg	12	16	2	1	rs201197109	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr16:818658G>A	ENST00000382862.3	+	17	1913	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	MSLN_ENST00000545450.2_Silent_p.S598S|MSLN_ENST00000566549.1_Silent_p.S598S|MSLN_ENST00000563941.1_Silent_p.S598S|MIR662_ENST00000384847.1_RNA	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	606					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGGCCCTCTCGGGGACGCCCT	0.706													G|||	8	0.00159744	0	0	5008	,	,		13099	0.0079		0	False		,,,				2504	0				p.S606S		.											.	MSLN-91	0			c.G1818A						.	G	,,	0,4384		0,0,2192	67	60	63		1794,1794,1818	-4.5	0	16		63	2,8576	2.2+/-6.3	0,2,4287	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,2,6479	AA,AG,GG		0.0233,0.0,0.0154	,,	598/623,598/623,606/631	818658	2,12960	2192	4289	6481	SO:0001819	synonymous_variant	10232	exon17			CCTCTCGGGGACG	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1818G>A	16.37:g.818658G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	63	19	NM_013404	0	0	0	0	0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																			G|0.999;A|0.001		0.706	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	818658	G	A	818658	2	1	28	1	0	0	0	0	0	0	0	1	9919	1103	39	1		1	MSLN	16	818658	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		818658	89536095	166	5120											
PAQR4	124222	broad.mit.edu	37	chr16	3019781	3019782	+	Frame_Shift_Ins	INS	-	-	C													ccggcccgccagcagcggctINScgggctgcctgcgcagcctc					rs144682481		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr16:3019781_3019782insC	ENST00000318782.8	+	1	536_537	c.106_107insC	c.(106-108)tcgfs	p.S36fs	PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000572687.1_Frame_Shift_Ins_p.S36fs|PAQR4_ENST00000293978.8_Frame_Shift_Ins_p.S36fs	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	36						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CAGCAGCGGCTCGGGCTGCCTG	0.698																																					p.S36fs		.											.	PAQR4-68	0			c.106_107insC						.																																			SO:0001589	frameshift_variant	124222	exon1			AGCGGCTCGGGCT		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.107dupC	16.37:g.3019782_3019782dupC	ENSP00000321804:p.Ser36fs	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	204	7	NM_152341	0	0	0	0	0	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Frame_Shift_Ins	INS	ENST00000318782.8	37	CCDS10485.1																																																																																			.		0.698	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		C	3019782	-	C	3019781	7	5	28	1	0	1	1	0	0	0	0	0	11476	1551	54	0	108	0	PAQR4	16	3019781	Frame_Shift_Ins	INS	-	TCGA-OR-A5K5-01A-11D-A29I-10	2201123	3019781	87334972	167	5121											
SPNS1	83985	broad.mit.edu	37	chr16	28992830	28992830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccgttctgctgctgTtcctggtagtgcgggagccg	17	10	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr16:28992830T>C	ENST00000311008.11	+	6	1080	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.F162L|SPNS1_ENST00000352260.7_Missense_Mutation_p.F213L|SPNS1_ENST00000565975.1_Missense_Mutation_p.F280L|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.F235L|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	235					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						TCTGCTGCTGTTCCTGGTAGT	0.642											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F235L		.											.	SPNS1-90	0			c.T703C						.						64	65	65					16																	28992830		2197	4300	6497	SO:0001583	missense	83985	exon6			CTGCTGTTCCTGG	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.703T>C	16.37:g.28992830T>C	ENSP00000309945:p.Phe235Leu	Somatic	99	0	806	WXS	Illumina GAIIx	Phase_I	128	3	NM_001142451	0	0	85	86	1	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159281	0.57368	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.56611	0.59;0.45;0.45;0.59	4.91	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.215254	0.40144	N	0.001167	T	0.22044	0.0531	N	0.04373	-0.215	0.37322	D	0.909619	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.11329	0.003;0.001;0.006;0.001	T	0.20638	-1.0269	10	0.02654	T	1	.	5.6913	0.17831	0.17:0.0:0.1773:0.6526	.	162;213;235;235	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	L	235;235;213;162	ENSP00000309945:F235L;ENSP00000335494:F235L;ENSP00000306050:F213L;ENSP00000318228:F162L	ENSP00000309945:F235L	F	+	1	0	SPNS1	28900331	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.231000	0.17872	0.887000	0.36136	0.533000	0.62120	TTC	.		0.642	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		C	28992830	T	C	28992830	3	2	28	1	0	0	0	0	1	0	0	0	15121	1725	60	4	725	4	SPNS1	16	28992830	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	25973049	28992830	61361923	168	5122											
LONP2	83752	ucsc.edu	37	chr16	48295433	48295433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgacattgtcatgctagaGaaaaaaatacgaacatctag	8	6	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr16:48295433G>A	ENST00000285737.4	+	5	915	c.822G>A	c.(820-822)gaG>gaA	p.E274E	LONP2_ENST00000535754.1_Silent_p.E230E	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						TCATGCTAGAGAAAAAAATAC	0.338																																					p.E274E		.											.	LONP2-90	0			c.G822A						.						132	131	132					16																	48295433		2200	4300	6500	SO:0001819	synonymous_variant	83752	exon5			GCTAGAGAAAAAA	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.822G>A	16.37:g.48295433G>A		Somatic	223	0		WXS	Illumina GAIIx	Phase_I	260	2	NM_031490	0	0	14	20	6		Silent	SNP	ENST00000285737.4	37	CCDS10734.1																																																																																			.		0.338	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		A	48295433	G	A	48295433	2	1	28	1	0	0	0	0	0	0	0	1	8928	933	33	3		3	LONP2	16	48295433	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	19302603	48295433	42059320	169	5123											
SALL1	6299	broad.mit.edu	37	chr16	51171231	51171231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggagggatgccaccgttcTgaatgacggagatctcgttg	14	8	2	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr16:51171231T>G	ENST00000251020.4	-	3	3800	c.3767A>C	c.(3766-3768)cAg>cCg	p.Q1256P	SALL1_ENST00000541611.1_Missense_Mutation_p.Q79P|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.Q1159P	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1256					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)			GCCACCGTTCTGAATGACGGA	0.572																																					p.Q1256P	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.A3767C						.						86	77	80					16																	51171231		2198	4300	6498	SO:0001583	missense	6299	exon3			CCGTTCTGAATGA	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.3767A>C	16.37:g.51171231T>G	ENSP00000251020:p.Gln1256Pro	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	95	4	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414439	0.62511	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.54866	0.55;0.55;0.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.75484	0.986;0.885	T	0.76130	-0.3072	10	0.72032	D	0.01	.	15.6652	0.77225	0.0:0.0:0.0:1.0	.	1256;79	Q9NSC2;F5H733	SALL1_HUMAN;.	P	1256;1159;1220;79	ENSP00000251020:Q1256P;ENSP00000407914:Q1159P;ENSP00000442827:Q79P	ENSP00000251020:Q1256P	Q	-	2	0	SALL1	49728732	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.032000	0.88838	2.104000	0.64026	0.523000	0.50628	CAG	.		0.572	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51171231	T	G	51171231	3	3	28	1	0	0	0	0	1	0	0	0	13855	1580	55	5	211	5	SALL1	16	51171231	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	2875798	51171231	39183522	170	5124											
NTN1	9423	broad.mit.edu;bcgsc.ca	37	chr17	9143050	9143050	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtataagcagggcacgagccGcatccgccgcggtgaccaga	14	13	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:9143050G>C	ENST00000173229.2	+	7	1687	c.1580G>C	c.(1579-1581)cGc>cCc	p.R527P	NTN1_ENST00000546090.1_Missense_Mutation_p.R527P|NTN1_ENST00000538852.1_Missense_Mutation_p.R527P	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	527	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGCACGAGCCGCATCCGCCGC	0.607																																					p.R527P		.											.	NTN1-90	0			c.G1580C						.						56	50	52					17																	9143050		2203	4300	6503	SO:0001583	missense	9423	exon7			CGAGCCGCATCCG	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1580G>C	17.37:g.9143050G>C	ENSP00000173229:p.Arg527Pro	Somatic	163	3		WXS	Illumina GAIIx	Phase_I	128	60	NM_004822	0	0	0	0	0	E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930776	0.52866	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.30981	1.51;1.51;1.51	4.29	4.29	0.51040	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	L	0.33668	1.02	0.54753	D	0.999987	B	0.18310	0.027	B	0.25506	0.061	T	0.05550	-1.0878	10	0.34782	T	0.22	.	16.3384	0.83074	0.0:0.0:1.0:0.0	.	527	O95631	NET1_HUMAN	P	527	ENSP00000173229:R527P;ENSP00000443259:R527P;ENSP00000441611:R527P	ENSP00000173229:R527P	R	+	2	0	NTN1	9083775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.329000	0.96413	1.920000	0.55613	0.596000	0.82720	CGC	.		0.607	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			C	9143050	G	C	9143050	3	2	28	1	0	0	0	0	1	0	0	0	10739	1087	38	2	1602	2	NTN1	17	9143050	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		9143050	72052160	171	5125											
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18062646	18062646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctcagcaagatggccAccgacatgttcctaggtgtg	12	12	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:18062646A>G	ENST00000205890.5	+	54	9552	c.9214A>G	c.(9214-9216)Acc>Gcc	p.T3072A	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.T336A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3072	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAAGATGGCCACCGACATGTT	0.597																																					p.T3072A		.											.	MYO15A-97	0			c.A9214G						.						88	95	93					17																	18062646		2132	4229	6361	SO:0001583	missense	51168	exon53			ATGGCCACCGACA	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.9214A>G	17.37:g.18062646A>G	ENSP00000205890:p.Thr3072Ala	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	83	33	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	9.395	1.076535	0.20227	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94613	-2.21;-3.47	4.94	1.53	0.23141	MyTH4 domain (2);	.	.	.	.	D	0.85936	0.5813	N	0.11756	0.17	0.19575	N	0.999966	B;B;B	0.12630	0.002;0.003;0.006	B;B;B	0.10450	0.003;0.004;0.005	T	0.72401	-0.4305	9	0.19590	T	0.45	.	8.321	0.32130	0.5575:0.0:0.4425:0.0	.	61;336;3072	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	A	3072;61;26	ENSP00000205890:T3072A;ENSP00000451782:T26A	ENSP00000205890:T3072A	T	+	1	0	MYO15A	18003371	0.005000	0.15991	0.289000	0.24876	0.974000	0.67602	0.299000	0.19138	0.255000	0.21593	0.379000	0.24179	ACC	.		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18062646	A	G	18062646	3	3	28	1	0	0	0	0	1	0	0	0	10101	159	6	4	9420	4	MYO15A	17	18062646	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	8919596	18062646	63132564	172	5126											
LRRC37B	114659	broad.mit.edu	37	chr17	30348897	30348897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagaactccgggtgaaCgcagatgagcctccagggcc	12	15	0	4	rs200519924		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:30348897C>T	ENST00000341671.7	+	1	737	c.732C>T	c.(730-732)aaC>aaT	p.N244N	LRRC37B_ENST00000394713.3_Silent_p.N244N|LRRC37B_ENST00000327564.7_Silent_p.N271N|LRRC37B_ENST00000584368.1_Silent_p.N256N|LRRC37B_ENST00000543378.2_Silent_p.N162N	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	244						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCCGGGTGAACGCAGATGAGC	0.488													.|||	1	0.000199681	0	0	5008	,	,		18748	0.001		0	False		,,,				2504	0				p.N244N		.											.	LRRC37B-92	0			c.C732T						.	C		2,4404		0,2,2201	92	107	102		732	-2.7	0	17		102	2,8598		0,2,4298	no	coding-synonymous	LRRC37B	NM_052888.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		244/948	30348897	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114659	exon1			GGTGAACGCAGAT	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.732C>T	17.37:g.30348897C>T		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_052888	0	0	1	1	0	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	CCDS32609.1																																																																																			C|0.999;T|0.000		0.488	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		T	30348897	C	T	30348897	2	4	28	1	0	0	0	0	0	0	0	1	9029	535	19	1		1	LRRC37B	17	30348897	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	12286251	30348897	50846313	173	5127											
LASP1	3927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	37070576	37070576	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgccttctgaccttgcAgataaaataccatgaggagt	9	9	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:37070576A>C	ENST00000318008.6	+	5	688		c.e5-1		LASP1_ENST00000433206.2_Splice_Site|LASP1_ENST00000435347.3_Splice_Site	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1						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						CTGACCTTGCAGATAAAATAC	0.582			T	MLL	AML																																.		.		Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	.	LASP1-522	0			c.358-2A>C						.						25	28	27					17																	37070576		2201	4300	6501	SO:0001630	splice_region_variant	3927	exon5			CCTTGCAGATAAA		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.358-1A>C	17.37:g.37070576A>C		Somatic	259	0		WXS	Illumina GAIIx	Phase_I	385	90	NM_006148	0	0	0	0	0	B4DGQ0|Q96ED2|Q96IG0	Splice_Site	SNP	ENST00000318008.6	37	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421280	0.62622	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	.	.	.	5.24	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6975	0.40167	0.9177:0.0:0.0823:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LASP1	34324102	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	8.488000	0.90458	0.838000	0.34948	0.460000	0.39030	.	.		0.582	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148	Intron	C	37070576	A	C	37070576	5	2	28	1	0	0	0	0	0	0	1	0	8665	202	7	5	374	5	LASP1	17	37070576	Splice_Site	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	6721679	37070576	44124634	174	5128											
ARL4D	379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	41477602	41477602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactcatgtgcaaggcTgcagcgctgtggacggtctg	13	12	3	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:41477602T>C	ENST00000320033.4	+	2	709	c.502T>C	c.(502-504)Tgc>Cgc	p.C168R		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	168					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGTGCAAGGCTGCAGCGCTGT	0.627																																					p.C168R		.											.	ARL4D-228	0			c.T502C						.						12	13	13					17																	41477602		2198	4290	6488	SO:0001583	missense	379	exon2			CAAGGCTGCAGCG	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.502T>C	17.37:g.41477602T>C	ENSP00000322628:p.Cys168Arg	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	68	24	NM_001661	0	0	2	3	1	B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762520	0.31228	.	.	ENSG00000175906	ENST00000320033	D	0.83506	-1.73	5.04	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	H	0.95712	3.71	0.80722	D	1	D	0.58620	0.983	P	0.60886	0.88	D	0.90648	0.4580	10	0.87932	D	0	-16.4835	6.6616	0.23016	0.1534:0.0:0.16:0.6866	.	168	P49703	ARL4D_HUMAN	R	168	ENSP00000322628:C168R	ENSP00000322628:C168R	C	+	1	0	ARL4D	38833128	0.995000	0.38212	1.000000	0.80357	0.004000	0.04260	1.275000	0.33144	0.924000	0.37069	-0.490000	0.04691	TGC	.		0.627	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		C	41477602	T	C	41477602	3	2	28	1	0	0	0	0	1	0	0	0	939	1580	55	4	504	4	ARL4D	17	41477602	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	4407026	41477602	39717608	175	5129											
HEXIM2	124790	broad.mit.edu;bcgsc.ca	37	chr17	43247039	43247039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgcaggcgtgcaccGgccagcagtcctgccgccag	14	16	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:43247039G>A	ENST00000307275.3	+	4	1160	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.G242S|HEXIM2_ENST00000592695.1_Missense_Mutation_p.G242S	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	242	Interaction with CCNT1, HEXIM1 and HEXIM2.				negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GGCGTGCACCGGCCAGCAGTC	0.662																																					p.G242S		.											.	HEXIM2-90	0			c.G724A						.						7	6	6					17																	43247039		1934	3799	5733	SO:0001583	missense	124790	exon4			TGCACCGGCCAGC	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.724G>A	17.37:g.43247039G>A	ENSP00000302276:p.Gly242Ser	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	138	7	NM_144608	0	0	11	12	1	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	2.723	-0.266142	0.05754	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.39	-1.71	0.08133	.	0.842838	0.10933	N	0.618199	T	0.11495	0.0280	N	0.02960	-0.455	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.33033	-0.9884	9	0.12103	T	0.63	-3.4353	4.1963	0.10445	0.3652:0.0:0.4596:0.1753	.	242	Q96MH2	HEXI2_HUMAN	S	242	.	ENSP00000302276:G242S	G	+	1	0	HEXIM2	40602822	0.000000	0.05858	0.001000	0.08648	0.262000	0.26303	-0.228000	0.09114	-0.161000	0.10983	0.462000	0.41574	GGC	.		0.662	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		A	43247039	G	A	43247039	3	1	28	1	0	0	0	0	1	0	0	0	7104	1116	39	1	730	1	HEXIM2	17	43247039	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1769437	43247039	37948171	176	5130											
KIAA1267	284058	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	44249233	44249233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaacttcaaagactcctTtgagggaacagatgttacat	8	8	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:44249233T>C	ENST00000262419.6	-	2	747	c.277A>G	c.(277-279)Aag>Gag	p.K93E	KANSL1_ENST00000574590.1_Missense_Mutation_p.K93E|KANSL1_ENST00000572904.1_Missense_Mutation_p.K93E|KANSL1_ENST00000432791.1_Missense_Mutation_p.K93E|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000575318.1_Missense_Mutation_p.K93E	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	93					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAAGACTCCTTTGAGGGAACA	0.468																																					p.K93E		.											.	.	0			c.A277G						.						111	139	130					17																	44249233		2203	4300	6503	SO:0001583	missense	284058	exon2			ACTCCTTTGAGGG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.277A>G	17.37:g.44249233T>C	ENSP00000262419:p.Lys93Glu	Somatic	216	1		WXS	Illumina GAIIx	Phase_I	206	54	NM_001193466	0	0	6	7	1	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714345	0.68730	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.26223	1.75;1.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.994;0.996	P;D	0.76071	0.879;0.987	T	0.20605	-1.0270	10	0.62326	D	0.03	-14.9155	13.6649	0.62389	0.0:0.0:0.0:1.0	.	93;93	C9JHY2;Q7Z3B3	.;K1267_HUMAN	E	93	ENSP00000262419:K93E;ENSP00000387393:K93E	ENSP00000262419:K93E	K	-	1	0	KIAA1267	41605010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.258000	0.65479	2.244000	0.73946	0.533000	0.62120	AAG	T|1.000;C|0.000		0.468	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		C	44249233	T	C	44249233	3	2	28	1	0	0	0	0	1	0	0	0	8246	1850	64	4	3096	4	KIAA1267	17	44249233	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	1002194	44249233	36945977	177	5131											
EVPL	2125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	74004100	74004100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcctccccacagggccccGaggtggtgacctcctcccag	10	19	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:74004100G>A	ENST00000301607.3	-	22	5439	c.5186C>T	c.(5185-5187)tCg>tTg	p.S1729L	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.S1751L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1729	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						ACAGGGCCCCGAGGTGGTGAC	0.642																																					p.S1729L		.											.	EVPL-93	0			c.C5186T						.						56	56	56					17																	74004100		2203	4300	6503	SO:0001583	missense	2125	exon22			GGCCCCGAGGTGG	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.5186C>T	17.37:g.74004100G>A	ENSP00000301607:p.Ser1729Leu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	119	33	NM_001988	0	0	0	0	0	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096021	0.20552	.	.	ENSG00000167880	ENST00000301607	T	0.66815	-0.23	4.94	0.00808	0.14073	.	0.481934	0.21663	N	0.070984	T	0.50973	0.1647	L	0.48642	1.525	0.23445	N	0.997665	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.32025	-0.9922	10	0.14252	T	0.57	-1.4573	8.2183	0.31526	0.5647:0.0:0.4353:0.0	.	1751;1729	B7ZLH8;Q92817	.;EVPL_HUMAN	L	1729	ENSP00000301607:S1729L	ENSP00000301607:S1729L	S	-	2	0	EVPL	71515695	0.068000	0.21057	0.967000	0.41034	0.986000	0.74619	0.974000	0.29436	0.145000	0.18977	0.561000	0.74099	TCG	.		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74004100	G	A	74004100	3	1	28	1	0	0	0	0	1	0	0	0	5308	1059	37	1	919	1	EVPL	17	74004100	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	29754867	74004100	7191110	178	5132											
ST6GALNAC1	55808	ucsc.edu;bcgsc.ca	37	chr17	74625598	74625598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccttgtcctgctcctcCggcggtgcctggttggcctc	13	16	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:74625598C>T	ENST00000156626.7	-	2	526	c.327G>A	c.(325-327)ccG>ccA	p.P109P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	109					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCTGCTCCTCCGGCGGTGCCT	0.587																																					p.P109P		.											.	ST6GALNAC1-90	0			c.G327A						.						128	117	121					17																	74625598		2203	4300	6503	SO:0001819	synonymous_variant	55808	exon2			CTCCTCCGGCGGT	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.327G>A	17.37:g.74625598C>T		Somatic	212	2		WXS	Illumina GAIIx	Phase_I	240	55	NM_018414	0	0	0	1	1	Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	CCDS11748.1																																																																																			.		0.587	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		T	74625598	C	T	74625598	2	4	28	1	0	0	0	0	0	0	0	1	15270	639	23	1		1	ST6GALNAC1	17	74625598	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	621498	74625598	6569612	179	5133											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625786	74625786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttaatgttctctgtgcGttgatgcctagggacagaga	11	7	2	2	rs368078651	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:74625786G>T	ENST00000156626.7	-	2	338	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	47					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTCTCTGTGCGTTGATGCCTA	0.433																																					p.R47S		.											.	ST6GALNAC1-90	0			c.C139A						.						96	91	93					17																	74625786		2203	4300	6503	SO:0001583	missense	55808	exon2			CTGTGCGTTGATG	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.139C>A	17.37:g.74625786G>T	ENSP00000156626:p.Arg47Ser	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	49	8	NM_018414	0	0	0	0	0	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	6.219	0.408640	0.11812	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.23348	1.94;1.91	3.68	-7.36	0.01417	.	4.891320	0.00166	N	0.000011	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.16188	-1.0411	10	0.21540	T	0.41	7.3021	0.5915	0.00728	0.3684:0.2757:0.138:0.2179	.	47	Q9NSC7	SIA7A_HUMAN	S	47	ENSP00000156626:R47S;ENSP00000351991:R47S	ENSP00000156626:R47S	R	-	1	0	ST6GALNAC1	72137381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.693000	0.01917	-1.873000	0.01135	-1.342000	0.01247	CGC	.		0.433	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		T	74625786	G	T	74625786	3	4	28	1	0	0	0	0	1	0	0	0	15270	1145	40	2	1695	2	ST6GALNAC1	17	74625786	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	188	74625786	6569424	180	5134											
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	80915250	80915257	+	Frame_Shift_Del	DEL	GGCAGTCA	GGCAGTCA	-													ctcaccttgcgctggctgccGgcagtcaagctgcggtacag					rs117451067	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	GGCAGTCA	GGCAGTCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr17:80915250_80915257delGGCAGTCA	ENST00000320865.3	-	9	852_859	c.839_846delTGACTGCC	c.(838-846)ttgactgccfs	p.LTA280fs	B3GNTL1_ENST00000571954.1_5'Flank|B3GNTL1_ENST00000576599.1_Frame_Shift_Del_p.LTA169fs	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	280							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCTGGCTGCCGGCAGTCAAGCTGCGGTA	0.702																																					p.280_282del		.											.	B3GNTL1-92	0			c.839_846del						.																																			SO:0001589	frameshift_variant	146712	exon9			GCTGCCGGCAGTC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.839_846delTGACTGCC	17.37:g.80915250_80915257delGGCAGTCA	ENSP00000319979:p.Leu280fs	Somatic	71	2		WXS	Illumina GAIIx	Phase_I	202	0	NM_001009905	0	0	0	0	0	Q6GV30|Q8WUT3	Frame_Shift_Del	DEL	ENST00000320865.3	37	CCDS32778.1																																																																																			.		0.702	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		-	80915257	GGCAGTCA	-	80915250	7	5	28	1	0	1	0	1	0	0	0	0	1266	1103	39	0	255	0	B3GNTL1	17	80915250	Frame_Shift_Del	DEL	GGCAGTCA	TCGA-OR-A5K5-01A-11D-A29I-10	6289464	80915250	279960	181	5135											
ME2	4200	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	48434497	48434498	+	Frame_Shift_Ins	INS	-	-	AGAG													ggacttctacctcccaaaatINSagagacacaagatattcaag							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr18:48434497_48434498insAGAG	ENST00000321341.5	+	3	445_446	c.173_174insAGAG	c.(172-177)atagagfs	p.-59fs	ME2_ENST00000382927.3_Frame_Shift_Ins_p.-59fs	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial						malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CCTCCCAAAATAGAGACACAAG	0.327																																					p.I58fs		.											.	ME2-90	0			c.173_174insAGAG						.																																			SO:0001589	frameshift_variant	4200	exon3			CCAAAATAGAGAC	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.174_177dupAGAG	18.37:g.48434498_48434501dupAGAG	ENSP00000321070:p.Glu59fs	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	118	25	NM_001168335	0	0	0	0	0	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Frame_Shift_Ins	INS	ENST00000321341.5	37	CCDS11948.1																																																																																			.		0.327	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		AGAG	48434498	-	AGAG	48434497	7	5	28	1	0	1	1	0	0	0	0	0	9456	1406	49	0	179	0	ME2	18	48434497	Frame_Shift_Ins	INS	-	TCGA-OR-A5K5-01A-11D-A29I-10		48434497	29642751	182	5136											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc	14	16	0	2	rs8140	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000344749.5_Silent_p.S434S|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000453954.2_Silent_p.S350S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	5	NM_003200	0	0	18	18	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	28	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		1619339	57509644	183	5137											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	14	NM_019107	0	0	13	26	13	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	28	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	3050974	4670313	54458670	184	5138											
EVI5L	115704	broad.mit.edu	37	chr19	7911501	7911501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctgctccccaaccTctgactccgagaacctcagc	5	22	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:7911501T>C	ENST00000270530.4	+	2	269	c.73T>C	c.(73-75)Tct>Cct	p.S25P	EVI5L_ENST00000538904.2_Missense_Mutation_p.S25P	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	25					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCCCAACCTCTGACTCCGA	0.657																																					p.S25P		.											.	EVI5L-91	0			c.T73C						.						32	34	33					19																	7911501		2203	4300	6503	SO:0001583	missense	115704	exon1			CCAACCTCTGACT	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.73T>C	19.37:g.7911501T>C	ENSP00000270530:p.Ser25Pro	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	104	4	NM_001159944	0	0	6	6	0	B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754019	0.31046	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05717	3.4;3.41	4.78	4.78	0.61160	.	0.070116	0.64402	D	0.000020	T	0.11110	0.0271	L	0.59436	1.845	0.41747	D	0.989641	P;P	0.51351	0.944;0.944	P;P	0.47346	0.544;0.544	T	0.08269	-1.0730	10	0.35671	T	0.21	-14.9537	12.2782	0.54749	0.0:0.0:0.0:1.0	.	25;25	B9A6I9;Q96CN4	.;EVI5L_HUMAN	P	25	ENSP00000270530:S25P;ENSP00000445905:S25P	ENSP00000270530:S25P	S	+	1	0	EVI5L	7817501	0.997000	0.39634	0.907000	0.35723	0.387000	0.30353	4.083000	0.57643	1.788000	0.52465	0.459000	0.35465	TCT	.		0.657	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		C	7911501	T	C	7911501	3	2	28	1	0	0	0	0	1	0	0	0	5306	1551	54	4	75	4	EVI5L	19	7911501	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	3241188	7911501	51217482	185	5139											
CD320	51293	hgsc.bcm.edu	37	chr19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgccacgctccaaccTgcgccatccaaccgccgctc	7	21	0	0	rs2232775	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000537716.2_Missense_Mutation_p.Q8R|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6	7	7		23,23	1.9	0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	59	23	NM_001165895	0	0	29	44	15	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		C	8373152	T	C	8373152	3	2	28	1	0	0	0	0	1	0	0	0	3011	1580	55	4	845	4	CD320	19	8373152	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	461651	8373152	50755831	186	5140											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399628	8399628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccgcgctggtgctccagActggcgcgcagcagctctag	13	16	1	1	rs710949	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:8399628A>G	ENST00000593649.1	-	3	1148	c.1083T>C	c.(1081-1083)agT>agC	p.S361S	KANK3_ENST00000330915.3_Silent_p.S361S			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	361										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGTGCTCCAGACTGGCGCGCA	0.766													G|||	3017	0.602436	0.7443	0.6153	5008	,	,		10732	0.4147		0.5984	False		,,,				2504	0.5992				p.S361S		.											.	KANK3-90	0			c.T1083C						.	G		1917,541		783,351,95	1	1	1		1083	3.4	1	19	dbSNP_86	1	3649,1585		1364,921,332	no	coding-synonymous	KANK3	NM_198471.2		2147,1272,427	GG,GA,AA		30.2828,22.0098,27.6391		361/822	8399628	5566,2126	1229	2617	3846	SO:0001819	synonymous_variant	256949	exon3			CTCCAGACTGGCG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1083T>C	19.37:g.8399628A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				A|0.411;G|0.589		0.766	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		G	8399628	A	G	8399628	2	3	28	1	0	0	0	0	0	0	0	1	8005	272	10	4		4	KANK3	19	8399628	Silent	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	26476	8399628	50729355	187	5141											
PRAM1	4670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	8555234	8555236	+	IGR	DEL	CAT	CAT	-													ccacgtaccgcagaagtcgaCatcatcgtacacctccgtct							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	CAT	CAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:8555234_8555236delCAT	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_In_Frame_Del_p.D654del|PRAM1_ENST00000255612.3_In_Frame_Del_p.D653del	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						CAGAAGTCGACATCATCGTACAC	0.66																																					p.654_655del		.											.	.	0			c.1961_1963del						.																																			SO:0001628	intergenic_variant	84106	exon9			AGTCGACATCATC	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		19.37:g.8555237_8555239delCAT		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	185	35	NM_032152	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	In_Frame_Del	DEL	ENST00000325495.4	37	CCDS12203.1																																																																																			.		0.66	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			-	8555236	CAT	-	8555234	6	5	28	0	1	1	0	1	0	0	0	0	12465	478	17	0		0	PRAM1	19	8555234	IGR	DEL	CAT	TCGA-OR-A5K5-01A-11D-A29I-10	155606	8555234	50573749	188	5142											
NACC1	112939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13246265	13246265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagtctttccagcagatcCtcagcttctgctacacgggc	8	16	3	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:13246265C>G	ENST00000292431.4	+	2	370	c.244C>G	c.(244-246)Ctc>Gtc	p.L82V		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCAGCAGATCCTCAGCTTCTG	0.617																																					p.L82V		.											.	NACC1-90	0			c.C244G						.						36	37	37					19																	13246265		2203	4300	6503	SO:0001583	missense	112939	exon2			CAGATCCTCAGCT	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.244C>G	19.37:g.13246265C>G	ENSP00000292431:p.Leu82Val	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	344	51	NM_052876	0	0	9	14	5		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277095	0.80580	.	.	ENSG00000160877	ENST00000292431	T	0.80738	-1.41	5.21	5.21	0.72293	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.88269	0.6391	M	0.64170	1.965	0.53688	D	0.999978	D	0.76494	0.999	D	0.91635	0.999	D	0.89359	0.3666	10	0.87932	D	0	.	16.346	0.83133	0.0:1.0:0.0:0.0	.	82	Q96RE7	NACC1_HUMAN	V	82	ENSP00000292431:L82V	ENSP00000292431:L82V	L	+	1	0	NACC1	13107265	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.742000	0.85008	2.442000	0.82660	0.650000	0.86243	CTC	.		0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		G	13246265	C	G	13246265	3	3	28	1	0	0	0	0	1	0	0	0	10173	681	24	3	246	3	NACC1	19	13246265	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	4691031	13246265	45882718	189	5143											
DCAF15	90379	broad.mit.edu	37	chr19	14071333	14071334	+	Frame_Shift_Ins	INS	-	-	G													gacatggtcatgaagtggctINSggtgccggagagcagcggcc							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:14071333_14071334insG	ENST00000254337.6	+	12	1709_1710	c.1688_1689insG	c.(1687-1692)ctggtgfs	p.V564fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	564					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						ATGAAGTGGCTGGTGCCGGAGA	0.658											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L563fs		.											.	DCAF15-90	0			c.1688_1689insG						.																																			SO:0001589	frameshift_variant	90379	exon12			AGTGGCTGGTGCC	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1690dupG	19.37:g.14071335_14071335dupG	ENSP00000254337:p.Val564fs	Somatic	222	0	692	WXS	Illumina GAIIx	Phase_I	542	7	NM_138353	0	0	0	0	0	B3KS86|Q96DW0|Q9BU31	Frame_Shift_Ins	INS	ENST00000254337.6	37	CCDS32926.1																																																																																			.		0.658	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		G	14071334	-	G	14071333	7	5	28	1	0	1	1	0	0	0	0	0	4276	1580	55	0	1734	0	DCAF15	19	14071333	Frame_Shift_Ins	INS	-	TCGA-OR-A5K5-01A-11D-A29I-10	825068	14071333	45057650	190	5144											
JAK3	3718	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17954268	17954268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccgaagcggtggcacTtctccagcccaaaccaattg	10	14	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:17954268T>C	ENST00000527670.1	-	3	370	c.341A>G	c.(340-342)aAg>aGg	p.K114R	JAK3_ENST00000534444.1_Missense_Mutation_p.K114R|JAK3_ENST00000458235.1_Missense_Mutation_p.K114R|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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)	GCGGTGGCACTTCTCCAGCCC	0.557		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.K114R		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	JAK3-2418	0			c.A341G						.						24	21	22					19																	17954268		2201	4297	6498	SO:0001583	missense	3718	exon4			TGGCACTTCTCCA	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.341A>G	19.37:g.17954268T>C	ENSP00000432511:p.Lys114Arg	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	350	57	NM_000215	0	0	0	0	0	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	1.498	-0.552822	0.03996	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.71817	-0.6;-0.6;-0.6	4.78	0.0631	0.14347	Band 4.1 domain (1);FERM domain (1);	0.423150	0.25648	N	0.029227	T	0.38241	0.1033	N	0.05306	-0.075	0.18873	N	0.999985	B;B;B	0.23377	0.084;0.0;0.001	B;B;B	0.21917	0.037;0.002;0.002	T	0.25916	-1.0118	10	0.08179	T	0.78	-4.2902	4.8448	0.13509	0.0:0.1788:0.3213:0.4999	.	114;114;114	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	R	114	ENSP00000391676:K114R;ENSP00000432511:K114R;ENSP00000436421:K114R	ENSP00000413248:K114R	K	-	2	0	JAK3	17815268	0.003000	0.15002	0.081000	0.20488	0.774000	0.43823	0.356000	0.20181	-0.014000	0.14175	0.397000	0.26171	AAG	.		0.557	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		C	17954268	T	C	17954268	3	2	28	1	0	0	0	0	1	0	0	0	7966	1609	56	4	3117	4	JAK3	19	17954268	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	3882935	17954268	41174715	191	5145											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	28	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	15213187	33167455	25961528	192	5146											
NUMBL	9253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41175846	41175846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggcgctccagcactGgcaaaagatgaactgatctg	13	10	1	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:41175846G>A	ENST00000252891.4	-	9	1283	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	NUMBL_ENST00000598779.1_Silent_p.A331A|NUMBL_ENST00000540131.1_Silent_p.A331A	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	372					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)			CTCCAGCACTGGCAAAAGATG	0.607																																					p.A372A		.											.	NUMBL-637	0			c.C1116T						.						67	60	62					19																	41175846		2203	4300	6503	SO:0001819	synonymous_variant	9253	exon9			AGCACTGGCAAAA	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.1116C>T	19.37:g.41175846G>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	175	34	NM_004756	0	0	6	6	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			.		0.607	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		A	41175846	G	A	41175846	2	1	28	1	0	0	0	0	0	0	0	1	10791	1335	47	3		3	NUMBL	19	41175846	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	8008391	41175846	17953137	193	5147											
PSG9	5678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43772123	43772123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaccatcaactatataCgatataatgtaatggtagag	6	5	1	1	rs376642216		TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:43772123C>T	ENST00000270077.3	-	2	339	c.243G>A	c.(241-243)tcG>tcA	p.S81S	PSG9_ENST00000443718.3_Silent_p.S81S|PSG9_ENST00000593948.1_Silent_p.S81S|PSG9_ENST00000596730.1_Silent_p.S81S|PSG9_ENST00000418820.2_Silent_p.S81S|PSG9_ENST00000291752.5_Silent_p.S81S|PSG9_ENST00000244293.7_Silent_p.S81S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	81	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S81S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAACTATATACGATATAATGT	0.423																																					p.S81S		.											.	PSG9-92	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A						.	T		0,4406		0,0,2203	176	178	178		243	-0.9	0	19		178	4,8596	819.0+/-406.8	0,4,4296	no	coding-synonymous	PSG9	NM_002784.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		81/427	43772123	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5678	exon2			TATATACGATATA	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.243G>A	19.37:g.43772123C>T		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	167	28	NM_002784	0	0	0	0	0	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	t	0.903	-0.721690	0.03182	0.0	4.65E-4	ENSG00000183668	ENST00000418820	.	.	.	1.56	-0.884	0.10597	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	2.7007	0.05148	0.2008:0.2645:0.0:0.5347	.	.	.	.	H	68	.	.	R	-	2	0	PSG9	48463963	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.734000	0.04893	-2.083000	0.00867	-4.055000	0.00012	CGT	.		0.423	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		T	43772123	C	T	43772123	2	4	28	1	0	0	0	0	0	0	0	1	12704	523	19	1		1	PSG9	19	43772123	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2596277	43772123	15356860	194	5148											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	14	NM_000400	0	0	6	15	9	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	28	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	2095136	45867259	13261724	195	5149											
PNMAL2	57469	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	46997223	46997223	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctcctccgacccctcGttggaccccatgttctcccg	8	19	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:46997223G>A	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.N500N			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCGACCCCTCGTTGGACCCCA	0.632																																					p.N500N		.											.	PNMAL2-1	0			c.C1500T						.						53	56	55					19																	46997223		1964	4145	6109	SO:0001627	intron_variant	57469	exon1			CCCCTCGTTGGAC	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+765C>T	19.37:g.46997223G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	83	11	NM_020709	0	0	5	7	2	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37																																																																																				.		0.632	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		A	46997223	G	A	46997223	1	1	28	0	1	0	0	0	0	0	0	0	12197	1136	40	1		1	PNMAL2	19	46997223	Intron	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1129964	46997223	12131760	196	5150											
TMEM143	55260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	48866617	48866617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggtactgctgggcccaGtcgcggggctccctggggtt	17	13	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:48866617G>C	ENST00000293261.3	-	2	511	c.195C>G	c.(193-195)gaC>gaG	p.D65E	TMEM143_ENST00000435956.3_Missense_Mutation_p.D65E|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000377431.2_Missense_Mutation_p.D65E|TMEM143_ENST00000436660.2_Missense_Mutation_p.D65E|SYNGR4_ENST00000344846.2_5'Flank|TMEM143_ENST00000541566.1_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	65					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCTGGGCCCAGTCGCGGGGCT	0.667																																					p.D65E		.											.	TMEM143-90	0			c.C195G						.						35	42	39					19																	48866617		2203	4298	6501	SO:0001583	missense	55260	exon2			GGCCCAGTCGCGG	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.195C>G	19.37:g.48866617G>C	ENSP00000293261:p.Asp65Glu	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	90	19	NM_018273	0	0	4	7	3	A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943917	0.73672	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660	T;T	0.53857	0.72;0.6	5.56	0.861	0.19048	.	0.332477	0.27604	N	0.018625	T	0.35537	0.0935	N	0.24115	0.695	0.25158	N	0.990377	B;D;B;P;P	0.54207	0.003;0.965;0.031;0.682;0.457	B;P;B;B;B	0.47044	0.004;0.535;0.019;0.129;0.129	T	0.27088	-1.0084	10	0.62326	D	0.03	-7.255	1.825	0.03119	0.2283:0.1387:0.4901:0.143	.	65;65;65;65;65	B4DG49;B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;.;TM143_HUMAN	E	65	ENSP00000293261:D65E;ENSP00000397038:D65E	ENSP00000293261:D65E	D	-	3	2	TMEM143	53558429	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.350000	0.20079	0.091000	0.17302	0.561000	0.74099	GAC	.		0.667	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		C	48866617	G	C	48866617	3	2	28	1	0	0	0	0	1	0	0	0	16104	1020	36	3	1212	3	TMEM143	19	48866617	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1869394	48866617	10262366	197	5151											
NAPSA	9476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50865552	50865552	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggatcctgcgtccaggttgGactcgatgaagagggatgct	15	8	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:50865552G>C	ENST00000253719.2	-	2	310	c.102C>G	c.(100-102)gtC>gtG	p.V34V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	34					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTCCAGGTTGGACTCGATGAA	0.532																																					p.V34V		.											.	NAPSA-90	0			c.C102G						.						60	57	58					19																	50865552		2203	4300	6503	SO:0001819	synonymous_variant	9476	exon2			AGGTTGGACTCGA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.102C>G	19.37:g.50865552G>C		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	82	17	NM_004851	0	0	0	0	0	Q8WWD9	Silent	SNP	ENST00000253719.2	37	CCDS12794.1																																																																																			.		0.532	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		C	50865552	G	C	50865552	2	2	28	1	0	0	0	0	0	0	0	1	10204	1161	41	3		3	NAPSA	19	50865552	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1998935	50865552	8263431	198	5152											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	28	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10	149852	51015404	8113579	199	5153											
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51021057	51021057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccacccccactggccAcggcggccgcggcggccacg	12	22	0	0	rs61751957	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:51021057A>G	ENST00000599957.1	-	3	2110	c.1913T>C	c.(1912-1914)gTg>gCg	p.V638A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V638A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	638	Poly-Ala.			AV -> TA (in Ref. 2; AAH56207). {ECO:0000305}.	positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCACTGGCCACGGCGGCCGC	0.726													A|||	1071	0.213858	0.1702	0.2579	5008	,	,		10941	0.125		0.2893	False		,,,				2504	0.2556				p.V638A		.											.	LRRC4B-205	0			c.T1913C						.	A	ALA/VAL	591,3051		57,477,1287	13	15	14		1913	-0.8	0	19	dbSNP_129	14	2294,5564		347,1600,1982	no	missense	LRRC4B	NM_001080457.1	64	404,2077,3269	GG,GA,AA		29.1932,16.2273,25.087	benign	638/714	51021057	2885,8615	1821	3929	5750	SO:0001583	missense	94030	exon3			CTGGCCACGGCGG	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1913T>C	19.37:g.51021057A>G	ENSP00000471502:p.Val638Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	6	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	484	0.2216117216117216	86	0.17479674796747968	89	0.24585635359116023	74	0.12937062937062938	235	0.3100263852242744	A	2.037	-0.421084	0.04734	0.162273	0.291932	ENSG00000131409	ENST00000389201	T	0.27402	1.67	2.86	-0.757	0.11054	.	0.245138	0.17282	U	0.179967	T	0.00012	0.0000	L	0.36672	1.1	0.47183	P	6.540000000000434E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.44982	-0.9292	9	0.12430	T	0.62	.	6.0652	0.19860	0.596:0.0:0.404:0.0	rs61751957	638	Q9NT99	LRC4B_HUMAN	A	638	ENSP00000373853:V638A	ENSP00000373853:V638A	V	-	2	0	LRRC4B	55712869	1.000000	0.71417	0.038000	0.18304	0.337000	0.28794	2.356000	0.44116	-0.425000	0.07371	-1.467000	0.01014	GTG	A|0.777;G|0.223		0.726	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		G	51021057	A	G	51021057	3	3	28	1	0	0	0	0	1	0	0	0	9042	159	6	4	232	4	LRRC4B	19	51021057	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	5653	51021057	8107926	200	5154											
ZNF616	90317	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	52620097	52620098	+	Frame_Shift_Del	DEL	TT	TT	-													gcactggcacttctttatcaTttgtttcaccatctttccat							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:52620097_52620098delTT	ENST00000600228.1	-	4	580_581	c.319_320delAA	c.(319-321)aatfs	p.N107fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTCTTTATCATTTGTTTCACCA	0.342																																					p.107_107del		.											.	ZNF616-90	0			c.319_320del						.																																			SO:0001589	frameshift_variant	90317	exon4			TTATCATTTGTTT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.319_320delAA	19.37:g.52620097_52620098delTT	ENSP00000471000:p.Asn107fs	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	196	37	NM_178523	0	0	0	0	0	B3KRV1|Q0P658|Q658V7	Frame_Shift_Del	DEL	ENST00000600228.1	37	CCDS33090.1																																																																																			.		0.342	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		-	52620098	TT	-	52620097	7	5	28	1	0	1	0	1	0	0	0	0	18089	1493	52	0	2029	0	ZNF616	19	52620097	Frame_Shift_Del	DEL	TT	TCGA-OR-A5K5-01A-11D-A29I-10	1599040	52620097	6508886	201	5155											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	28	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	3373163	55993260	3135723	202	5156											
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3214626	3214626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtggcggtgaccccttgGatggtatctgacagcaggtg	15	9	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr20:3214626G>A	ENST00000380056.3	-	5	641	c.594C>T	c.(592-594)atC>atT	p.I198I	SLC4A11_ENST00000380059.3_Silent_p.I225I|SLC4A11_ENST00000539553.2_Silent_p.I182I	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	198					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						TGACCCCTTGGATGGTATCTG	0.657																																					p.I225I	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.C675T						.						100	98	99					20																	3214626		2203	4300	6503	SO:0001819	synonymous_variant	83959	exon6			CCCTTGGATGGTA	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.594C>T	20.37:g.3214626G>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	100	36	NM_001174090	0	0	0	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			.		0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			A	3214626	G	A	3214626	2	1	28	1	0	0	0	0	0	0	0	1	14697	1164	41	3		3	SLC4A11	20	3214626	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		3214626	59810894	203	5157											
PCSK2	5126	broad.mit.edu	37	chr20	17341187	17341187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaccagatcaatactgGgcaagctgatggcactcctg	10	12	1	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr20:17341187G>T	ENST00000262545.2	+	4	722	c.407G>T	c.(406-408)gGg>gTg	p.G136V	PCSK2_ENST00000536609.1_Missense_Mutation_p.G101V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G117V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	136					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)"	ATCAATACTGGGCAAGCTGAT	0.433																																					p.G136V		.											.	PCSK2-157	0			c.G407T						.						91	82	85					20																	17341187		2203	4300	6503	SO:0001583	missense	5126	exon4			ATACTGGGCAAGC	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.407G>T	20.37:g.17341187G>T	ENSP00000262545:p.Gly136Val	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	201	7	NM_002594	0	0	0	0	0	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.375035	0.82682	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.41758	0.99;0.99;0.99	5.95	5.95	0.96441	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.70842	2.15	0.80722	D	1	D;P	0.76494	0.999;0.935	D;P	0.76071	0.987;0.706	T	0.66551	-0.5895	10	0.87932	D	0	-30.0091	17.8686	0.88804	0.0:0.0:1.0:0.0	.	101;136	B4DFQ3;P16519	.;NEC2_HUMAN	V	117;136;101	ENSP00000367131:G117V;ENSP00000262545:G136V;ENSP00000437458:G101V	ENSP00000262545:G136V	G	+	2	0	PCSK2	17289187	1.000000	0.71417	0.433000	0.26760	0.852000	0.48524	9.370000	0.97159	2.817000	0.96982	0.563000	0.77884	GGG	.		0.433	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17341187	G	T	17341187	3	4	28	1	0	0	0	0	1	0	0	0	11640	1232	43	3	421	3	PCSK2	20	17341187	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	14126561	17341187	45684333	204	5158											
HNF4A	3172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43057001	43057001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgatgcaccccatgccCaccaccccctgcaccctcac	5	24	1	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr20:43057001C>A	ENST00000316099.4	+	9	1245	c.1156C>A	c.(1156-1158)Cac>Aac	p.H386N	HNF4A_ENST00000457232.1_Missense_Mutation_p.H364N|HNF4A_ENST00000316673.4_Missense_Mutation_p.H364N|HNF4A_ENST00000415691.2_Missense_Mutation_p.H386N	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	386					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCATGCCCACCACCCCCT	0.587																																					p.H386N	Colon(79;2 1269 8820 14841 52347)	.											.	HNF4A-227	0			c.C1156A						.						114	85	95					20																	43057001		2203	4300	6503	SO:0001583	missense	3172	exon9			CATGCCCACCACC	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1156C>A	20.37:g.43057001C>A	ENSP00000312987:p.His386Asn	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	119	48	NM_178849	0	0	1	1	0	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467298	0.84533	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.93	5.93	0.95920	.	0.213901	0.48286	D	0.000189	T	0.78240	0.4252	M	0.75447	2.3	0.80722	D	1	P;B;P;B;B	0.38020	0.615;0.276;0.462;0.415;0.397	B;B;B;B;B	0.43990	0.334;0.254;0.42;0.199;0.438	T	0.76769	-0.2837	10	0.45353	T	0.12	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	379;386;386;364;364	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	N	364;364;386;416;386	ENSP00000315180:H364N;ENSP00000396216:H364N;ENSP00000312987:H386N;ENSP00000412111:H386N	ENSP00000312987:H386N	H	+	1	0	HNF4A	42490415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.814000	0.96858	0.563000	0.77884	CAC	.		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			A	43057001	C	A	43057001	3	1	28	1	0	0	0	0	1	0	0	0	7280	594	21	3	1368	3	HNF4A	20	43057001	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	25715814	43057001	19968519	205	5159											
KCNS1	3787	bcgsc.ca	37	chr20	43727108	43727108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgccggtcgaagtagAattcgcgcgccgcctcgtcg	15	14	0	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr20:43727108A>G	ENST00000306117.1	-	4	701	c.305T>C	c.(304-306)tTc>tCc	p.F102S	KCNS1_ENST00000537075.1_Missense_Mutation_p.F102S	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	102					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTCGAAGTAGAATTCGCGCGC	0.711																																					p.F102S		.											.	KCNS1-90	0			c.T305C						.						20	22	21					20																	43727108		2181	4257	6438	SO:0001583	missense	3787	exon4			AAGTAGAATTCGC	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.305T>C	20.37:g.43727108A>G	ENSP00000307694:p.Phe102Ser	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	146	6	NM_002251	0	0	0	0	0	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662466	0.88251	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	T;T	0.77877	-1.13;-1.13	4.72	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90188	0.6933	M	0.92122	3.275	0.58432	D	0.999996	D	0.76494	0.999	D	0.81914	0.995	D	0.92577	0.6071	10	0.87932	D	0	.	14.2256	0.65858	1.0:0.0:0.0:0.0	.	102	Q96KK3	KCNS1_HUMAN	S	102	ENSP00000307694:F102S;ENSP00000445595:F102S	ENSP00000307694:F102S	F	-	2	0	KCNS1	43160522	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.038000	0.93771	1.760000	0.52011	0.533000	0.62120	TTC	.		0.711	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		G	43727108	A	G	43727108	3	3	28	1	0	0	0	0	1	0	0	0	8115	246	9	4	1283	4	KCNS1	20	43727108	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	670107	43727108	19298412	206	5160											
SLMO2	51012	broad.mit.edu	37	chr20	57613555	57613555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagtccccactctgtgCtgagaagtctgtggctgtgc	13	11	2	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr20:57613555C>T	ENST00000355937.4	-	2	345	c.167G>A	c.(166-168)aGc>aAc	p.S56N	SLMO2_ENST00000371033.5_Missense_Mutation_p.S56N	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	56	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CCACTCTGTGCTGAGAAGTCT	0.453																																					p.S56N		.											.	SLMO2-45	0			c.G167A						.						98	94	95					20																	57613555		1909	4126	6035	SO:0001583	missense	51012	exon2			TCTGTGCTGAGAA	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.167G>A	20.37:g.57613555C>T	ENSP00000348206:p.Ser56Asn	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	74	3	NM_001256403	0	0	23	23	0	E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890216	0.91889	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.17528	2.27;2.27	5.36	5.36	0.76844	PRELI/MSF1 (2);	0.077067	0.85682	D	0.000000	T	0.46927	0.1418	M	0.87547	2.89	0.80722	D	1	D;P	0.63880	0.993;0.571	D;B	0.63113	0.911;0.403	T	0.50381	-0.8835	10	0.51188	T	0.08	-6.5515	18.4363	0.90648	0.0:1.0:0.0:0.0	.	56;56	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	N	56	ENSP00000348206:S56N;ENSP00000360072:S56N	ENSP00000348206:S56N	S	-	2	0	SLMO2	57046950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.370000	0.79589	2.665000	0.90641	0.655000	0.94253	AGC	.		0.453	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		T	57613555	C	T	57613555	3	4	28	1	0	0	0	0	1	0	0	0	14796	797	28	3	437	3	SLMO2	20	57613555	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	13886447	57613555	5411965	207	5161											
DSCAM	1826	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	41539177	41539177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgctctgagatgataTaggctccaggtgaacttcct	10	10	1	4			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr21:41539177T>C	ENST00000400454.1	-	16	3463	c.2986A>G	c.(2986-2988)Ata>Gta	p.I996V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	996	Fibronectin type-III 2. {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)				TGAGATGATATAGGCTCCAGG	0.522																																					p.I996V	Melanoma(134;970 1778 1785 21664 32388)	.											.	DSCAM-101	0			c.A2986G						.						106	105	105					21																	41539177		1923	4140	6063	SO:0001583	missense	1826	exon16			ATGATATAGGCTC	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.2986A>G	21.37:g.41539177T>C	ENSP00000383303:p.Ile996Val	Somatic	131	1		WXS	Illumina GAIIx	Phase_I	116	30	NM_001271534	0	0	0	0	0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	1.572	-0.533911	0.04082	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56103	0.48;0.48	5.22	2.78	0.32641	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215374	0.45867	D	0.000340	T	0.28300	0.0699	N	0.16016	0.355	0.22629	N	0.998917	B	0.16166	0.016	B	0.17098	0.017	T	0.26224	-1.0109	10	0.02654	T	1	.	9.7641	0.40550	0.0:0.0:0.3361:0.6639	.	996	O60469	DSCAM_HUMAN	V	996;748	ENSP00000383303:I996V;ENSP00000385342:I748V	ENSP00000383303:I996V	I	-	1	0	DSCAM	40461047	0.916000	0.31088	0.839000	0.33178	0.981000	0.71138	0.653000	0.24902	0.357000	0.24183	0.533000	0.62120	ATA	.		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41539177	T	C	41539177	3	2	28	1	0	0	0	0	1	0	0	0	4782	1406	49	4	3124	4	DSCAM	21	41539177	Missense_Mutation	SNP	T	TCGA-OR-A5K5-01A-11D-A29I-10		41539177	6590718	208	5162											
SLC25A18	83733	broad.mit.edu	37	chr22	18070006	18070006	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgccaccctcattgcctggGagctgctccgcactcagggc	11	17	2	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chr22:18070006G>C	ENST00000327451.6	+	8	1052	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.E172Q	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	172						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CATTGCCTGGGAGCTGCTCCG	0.652																																					p.E172Q	Colon(118;1560 1625 18964 29606 50093)	.											.	SLC25A18-90	0			c.G514C						.						80	77	78					22																	18070006		2203	4300	6503	SO:0001583	missense	83733	exon8			GCCTGGGAGCTGC	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.514G>C	22.37:g.18070006G>C	ENSP00000329033:p.Glu172Gln	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_031481	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327451.6	37	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940569	0.34283	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.79352	-1.26;-1.26	5.1	4.06	0.47325	Mitochondrial carrier domain (2);	0.204155	0.50627	D	0.000104	T	0.65780	0.2724	L	0.27975	0.815	0.36689	D	0.879497	B	0.23128	0.08	B	0.28305	0.088	T	0.63265	-0.6676	10	0.17832	T	0.49	.	13.1432	0.59446	0.0808:0.0:0.9192:0.0	.	172	Q9H1K4	GHC2_HUMAN	Q	172	ENSP00000329033:E172Q;ENSP00000382710:E172Q	ENSP00000329033:E172Q	E	+	1	0	SLC25A18	16450006	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	3.843000	0.55865	1.269000	0.44280	0.485000	0.47835	GAG	.		0.652	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		C	18070006	G	C	18070006	3	2	28	1	0	0	0	0	1	0	0	0	14525	1175	41	3	536	3	SLC25A18	22	18070006	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10		18070006	33234560	209	5163											
SAT1	6303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	23803871	23803873	+	In_Frame_Del	DEL	CTT	CTT	-													tggaatgaaccatccatcaaCttctataaaagaagaggtgc							TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:23803871_23803873delCTT	ENST00000379270.4	+	6	593_595	c.414_416delCTT	c.(412-417)aacttc>aac	p.F139del	RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_In_Frame_Del_p.F111del|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						CATCCATCAACTTCTATAAAAGA	0.443																																					p.138_139del		.											.	SAT1-554	0			c.414_416del						.																																			SO:0001651	inframe_deletion	6303	exon6			CATCAACTTCTAT	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 1"	313020	"spermidine/spermine N1-acetyltransferase"	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.414_416delCTT	X.37:g.23803871_23803873delCTT	ENSP00000368572:p.Phe139del	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	220	55	NM_002970	0	0	0	0	0	A8K9N2|Q7Z5R3|Q96BK0	In_Frame_Del	DEL	ENST00000379270.4	37	CCDS14207.1																																																																																			.		0.443	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		-	23803873	CTT	-	23803871	7	5	28	1	0	1	0	1	0	0	0	0	13896	564	20	0	436	0	SAT1	23	23803871	In_Frame_Del	DEL	CTT	TCGA-OR-A5K5-01A-11D-A29I-10		23803871	131466689	210	5164											
PCYT1B	9468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	24593415	24593415	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcattttgtccacttggttCtggaaacggtacctcttctc	7	11	4	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:24593415C>G	ENST00000379144.2	-	7	859	c.729G>C	c.(727-729)caG>caC	p.Q243H	PCYT1B_ENST00000379145.1_Missense_Mutation_p.Q225H|PCYT1B_ENST00000356768.4_Missense_Mutation_p.Q243H	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	243					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CCACTTGGTTCTGGAAACGGT	0.363																																					p.Q243H		.											.	PCYT1B-130	0			c.G729C						.						137	113	121					X																	24593415		2203	4300	6503	SO:0001583	missense	9468	exon7			TTGGTTCTGGAAA	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.729G>C	X.37:g.24593415C>G	ENSP00000368439:p.Gln243His	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	97	22	NM_004845	0	0	0	0	0	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.134903	0.37728	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	4.56	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.79614	2.46	0.80722	D	1	P;P;P	0.42785	0.525;0.79;0.79	B;B;B	0.42245	0.381;0.179;0.179	T	0.58736	-0.7584	9	0.87932	D	0	-21.0804	5.4981	0.16813	0.0:0.5157:0.0:0.4843	.	243;225;243	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	H	225;243;243	.	ENSP00000349211:Q243H	Q	-	3	2	PCYT1B	24503336	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.040000	0.49799	0.774000	0.33427	0.513000	0.50165	CAG	.		0.363	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		G	24593415	C	G	24593415	3	3	28	1	0	0	0	0	1	0	0	0	11650	912	32	3	425	3	PCYT1B	23	24593415	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	789544	24593415	130677145	211	5165											
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chrX	26212978	26212978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttactgaagatttggtgcaaGataagtacgtggtttaccgg	12	5	0	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:26212978G>C	ENST00000379034.1	+	2	1164	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	339	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTTGGTGCAAGATAAGTACGT	0.498																																					p.D339H		.											.	MAGEB6-133	0			c.G1015C						.						121	118	119					X																	26212978		2201	4281	6482	SO:0001583	missense	158809	exon2			GTGCAAGATAAGT	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1015G>C	X.37:g.26212978G>C	ENSP00000368320:p.Asp339His	Somatic	367	0		WXS	Illumina GAIIx	Phase_I	456	102	NM_173523	0	0	0	0	0	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625774	0.28889	.	.	ENSG00000176746	ENST00000379034	T	0.04758	3.56	3.29	-4.83	0.03161	.	0.283163	0.34002	U	0.004349	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	D	0.65443	0.935	T	0.05022	-1.0911	10	0.66056	D	0.02	.	11.0202	0.47713	0.0962:0.6822:0.2216:0.0	.	339	Q8N7X4	MAGB6_HUMAN	H	339	ENSP00000368320:D339H	ENSP00000368320:D339H	D	+	1	0	MAGEB6	26122899	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-1.427000	0.01992	-0.237000	0.12165	GAT	.		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		C	26212978	G	C	26212978	3	2	28	1	0	0	0	0	1	0	0	0	9217	942	33	3	1017	3	MAGEB6	23	26212978	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1619563	26212978	129057582	212	5166											
GPR82	27197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	41587121	41587121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacaccaaagagataactGtcagcaattgaattatttaa	5	7	2	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:41587121G>T	ENST00000302548.4	+	3	1082	c.842G>T	c.(841-843)tGt>tTt	p.C281F	CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						AGAGATAACTGTCAGCAATTG	0.313																																					p.C281F		.											.	GPR82-110	0			c.G842T						.						52	51	51					X																	41587121		2203	4294	6497	SO:0001583	missense	27197	exon3			ATAACTGTCAGCA	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.842G>T	X.37:g.41587121G>T	ENSP00000303549:p.Cys281Phe	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	164	31	NM_080817	0	0	0	0	0	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609248	0.46527	.	.	ENSG00000171657	ENST00000302548	T	0.38077	1.16	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.075071	0.51477	D	0.000087	T	0.50120	0.1597	L	0.36672	1.1	0.37324	D	0.909691	D	0.63046	0.992	D	0.66847	0.947	T	0.57195	-0.7853	10	0.62326	D	0.03	-9.6693	16.6629	0.85245	0.0:0.0:1.0:0.0	.	281	Q96P67	GPR82_HUMAN	F	281	ENSP00000303549:C281F	ENSP00000303549:C281F	C	+	2	0	GPR82	41472065	1.000000	0.71417	0.522000	0.27862	0.783000	0.44284	6.481000	0.73608	2.330000	0.79161	0.594000	0.82650	TGT	.		0.313	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		T	41587121	G	T	41587121	3	4	28	1	0	0	0	0	1	0	0	0	6738	1377	48	3	844	3	GPR82	23	41587121	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	15374143	41587121	113683439	213	5167											
DGKK	139189	broad.mit.edu	37	chrX	50213274	50213274	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctctggggccggctctGggaccgactctagggcaggt	16	12	4	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:50213274G>A	ENST00000376025.2	-	0	463							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggccggctctgggaccgactc	0.672																																					.		.											.	DGKK-227	0			.						.						36	42	40					X																	50213274		1858	4078	5936			139189	.			GGCTCTGGGACCG	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213274G>A		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	15	4	.	0	0	0	0	0	B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																				.		0.672	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50213274	G	A	50213274	1	1	28	0	1	0	0	0	0	0	0	0	4486	1348	47	3		3	DGKK	23	50213274	RNA	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	8626153	50213274	105057286	214	5168											
SMC1A	8243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53410124	53410124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgctgctcattcagcttCtgctgcagtgtgttcatctc	8	13	6	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:53410124C>T	ENST00000322213.4	-	20	3151	c.3024G>A	c.(3022-3024)caG>caA	p.Q1008Q	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1008					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTCAGCTTCTGCTGCAGTG	0.557																																					p.Q1008Q		.											.	SMC1A-232	0			c.G3024A						.						102	69	80					X																	53410124		2202	4298	6500	SO:0001819	synonymous_variant	8243	exon20			CAGCTTCTGCTGC	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3024G>A	X.37:g.53410124C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	113	33	NM_006306	0	0	6	7	1	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																			.		0.557	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53410124	C	T	53410124	2	4	28	1	0	0	0	0	0	0	0	1	14826	912	32	3		3	SMC1A	23	53410124	Silent	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	3196850	53410124	101860436	215	5169											
HUWE1	10075	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	53591626	53591626	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatatccccatctgccAcctctgtctgagtgacatca	6	15	4	3			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:53591626A>C	ENST00000342160.3	-	50	7395	c.6938T>G	c.(6937-6939)gTg>gGg	p.V2313G	HUWE1_ENST00000262854.6_Missense_Mutation_p.V2313G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2313	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCCATCTGCCACCTCTGTCTG	0.527																																					p.V2313G		.											.	HUWE1-280	0			c.T6938G						.						193	123	146					X																	53591626		2203	4300	6503	SO:0001583	missense	10075	exon51			TCTGCCACCTCTG	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.6938T>G	X.37:g.53591626A>C	ENSP00000340648:p.Val2313Gly	Somatic	132	2		WXS	Illumina GAIIx	Phase_I	128	21	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	8.250	0.808736	0.16467	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.36878	1.23;1.23	5.44	5.44	0.79542	.	0.000000	0.47852	D	0.000209	T	0.22166	0.0534	N	0.14661	0.345	0.51767	D	0.999937	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.06789	-1.0807	10	0.23891	T	0.37	.	12.321	0.54985	1.0:0.0:0.0:0.0	.	2313;2313	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2313	ENSP00000340648:V2313G;ENSP00000262854:V2313G	ENSP00000262854:V2313G	V	-	2	0	HUWE1	53608351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.905000	0.56333	1.813000	0.52934	0.417000	0.27973	GTG	.		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53591626	A	C	53591626	3	2	28	1	0	0	0	0	1	0	0	0	7488	159	6	5	6322	5	HUWE1	23	53591626	Missense_Mutation	SNP	A	TCGA-OR-A5K5-01A-11D-A29I-10	181502	53591626	101678934	216	5170											
SATL1	340562	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	84362926	84362926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggctcgttgcggtggaCctggttggcttatgcttgct	16	8	0	0			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:84362926C>A	ENST00000395409.3	-	1	1048	c.488G>T	c.(487-489)gGt>gTt	p.G163V	SATL1_ENST00000332921.5_Missense_Mutation_p.G163V|SATL1_ENST00000509231.1_Missense_Mutation_p.G350V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	163	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						TTGCGGTGGACCTGGTTGGCT	0.537																																					p.G350V		.											.	SATL1-175	0			c.G1049T						.						219	140	166					X																	84362926		2203	4300	6503	SO:0001583	missense	340562	exon1			GGTGGACCTGGTT	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.488G>T	X.37:g.84362926C>A	ENSP00000378804:p.Gly163Val	Somatic	312	1		WXS	Illumina GAIIx	Phase_I	363	84	NM_001012980	0	0	0	0	0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	C	6.664	0.490976	0.12702	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.41758	0.99;0.99;0.99	1.92	0.23	0.15372	.	.	.	.	.	T	0.47395	0.1443	L	0.43152	1.355	0.09310	N	1	B;D	0.59357	0.328;0.985	B;D	0.63877	0.112;0.919	T	0.30592	-0.9973	9	0.49607	T	0.09	.	5.4149	0.16368	0.0:0.667:0.0:0.333	.	163;350	Q86VE3;E9PB72	SATL1_HUMAN;.	V	163;163;350	ENSP00000378804:G163V;ENSP00000329115:G163V;ENSP00000425421:G350V	ENSP00000329115:G163V	G	-	2	0	SATL1	84249582	0.020000	0.18652	0.000000	0.03702	0.013000	0.08279	1.368000	0.34216	-0.040000	0.13580	0.190000	0.17370	GGT	.		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		A	84362926	C	A	84362926	3	1	28	1	0	0	0	0	1	0	0	0	13900	507	18	3	869	3	SATL1	23	84362926	Missense_Mutation	SNP	C	TCGA-OR-A5K5-01A-11D-A29I-10	30771300	84362926	70907634	217	5171											
DACH2	117154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	85950071	85950071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataagatgcagtctccatttGctgcacctggaccccaacat	7	13	1	1			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:85950071G>T	ENST00000373125.4	+	5	820	c.820G>T	c.(820-822)Gct>Tct	p.A274S	DACH2_ENST00000510272.1_Missense_Mutation_p.A55S|DACH2_ENST00000508860.1_Missense_Mutation_p.A107S|DACH2_ENST00000373131.1_Missense_Mutation_p.A261S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	274					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTCTCCATTTGCTGCACCTGG	0.473																																					p.A274S		.											.	DACH2-136	0			c.G820T						.						68	56	60					X																	85950071		2203	4300	6503	SO:0001583	missense	117154	exon5			CCATTTGCTGCAC	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.820G>T	X.37:g.85950071G>T	ENSP00000362217:p.Ala274Ser	Somatic	341	0		WXS	Illumina GAIIx	Phase_I	328	79	NM_053281	0	0	0	0	0	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	g	1.941	-0.443550	0.04604	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.82984	-1.67;-1.66	4.99	1.7	0.24286	.	0.492910	0.18818	N	0.130327	T	0.50274	0.1606	N	0.01352	-0.895	0.09310	N	0.999996	B;B;B	0.25772	0.035;0.134;0.083	B;B;B	0.19946	0.027;0.027;0.012	T	0.43180	-0.9407	10	0.20046	T	0.44	.	2.2764	0.04103	0.4957:0.0:0.2574:0.2469	.	140;261;274	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	S	274;261;274;107;55;107	ENSP00000362223:A261S;ENSP00000362217:A274S	ENSP00000345134:A274S	A	+	1	0	DACH2	85836727	1.000000	0.71417	0.588000	0.28705	0.060000	0.15804	2.764000	0.47613	0.345000	0.23873	-0.371000	0.07208	GCT	.		0.473	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	85950071	G	T	85950071	3	4	28	1	0	0	0	0	1	0	0	0	4230	1319	46	3	838	3	DACH2	23	85950071	Missense_Mutation	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	1587145	85950071	69320489	218	5172											
IRS4	8471	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	107979446	107979446	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagacgacccggtcccaatGagtgcggtcggggttcccga	14	13	0	2			TCGA-OR-A5K5-01A-11D-A29I-10	TCGA-OR-A5K5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a7ec1b86-9c36-455f-a4f9-f8e82a163b67	eca69aee-715b-48c7-be08-bc78e8190f99	g.chrX:107979446G>T	ENST00000372129.2	-	1	205	c.129C>A	c.(127-129)ctC>ctA	p.L43L	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	43					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGTCCCAATGAGTGCGGTCG	0.657																																					p.L43L		.											.	IRS4-623	0			c.C129A						.						25	27	26					X																	107979446		2197	4280	6477	SO:0001819	synonymous_variant	8471	exon1			CCCAATGAGTGCG	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.129C>A	X.37:g.107979446G>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	111	23	NM_003604	0	0	0	0	0		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			.		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107979446	G	T	107979446	2	4	28	1	0	0	0	0	0	0	0	1	7869	1277	45	3		3	IRS4	23	107979446	Silent	SNP	G	TCGA-OR-A5K5-01A-11D-A29I-10	22029375	107979446	47291114	219	5173											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	29	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		29138975	220111646	1	5174											
CYP4A22	284541	bcgsc.ca	37	chr1	47609489	47609489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacagcctggttttttgcTgtatgaggaatgcctttcat	10	7	1	2	rs10789501	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:47609489T>C	ENST00000371891.3	+	6	722	c.691T>C	c.(691-693)Tgt>Cgt	p.C231R	CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.C231R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	231			C -> R (allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs10789501). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTTTTTTGCTGTATGAGGAA	0.552													C|||	2908	0.580671	0.5015	0.464	5008	,	,		20346	0.9335		0.3489	False		,,,				2504	0.6452				p.C231R	Pancreas(88;1240 1470 2099 14214 37557)	.											.	CYP4A22-139	0			c.T691C						.	C	ARG/CYS	2187,2219		554,1079,570	137	125	129		691	1.9	0	1	dbSNP_120	129	2907,5693		483,1941,1876	yes	missense	CYP4A22	NM_001010969.2	180	1037,3020,2446	CC,CT,TT		33.8023,49.6369,39.1665	benign	231/520	47609489	5094,7912	2203	4300	6503	SO:0001583	missense	284541	exon6			TTTTGCTGTATGA		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.691T>C	1.37:g.47609489T>C	ENSP00000360958:p.Cys231Arg	Somatic	194	2		WXS	Illumina GAIIx	Phase_I	192	7	NM_001010969	0	0	0	0	0	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	1188	0.5439560439560439	243	0.49390243902439024	151	0.4171270718232044	539	0.9423076923076923	255	0.33641160949868076	N	0.003	-2.442517	0.00180	0.496369	0.338023	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.65732	-0.17;-0.17	1.94	1.94	0.25998	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00000	-3.89	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44922	-0.9296	9	0.02654	T	1	.	3.8065	0.08779	0.4389:0.412:0.0:0.1491	rs10789501;rs56846047;rs10789501	231	Q5TCH4	CP4AM_HUMAN	R	231	ENSP00000360958:C231R;ENSP00000294337:C231R	ENSP00000294337:C231R	C	+	1	0	CYP4A22	47382076	0.014000	0.17966	0.002000	0.10522	0.001000	0.01503	0.053000	0.14184	0.188000	0.20168	-1.033000	0.02402	TGT	T|0.527;C|0.473		0.552	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		C	47609489	T	C	47609489	3	2	29	1	0	0	0	0	1	0	0	0	4193	1580	55	4	713	4	CYP4A22	1	47609489	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	18470514	47609489	201641132	2	5175											
IGSF3	3321	broad.mit.edu	37	chr1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcagccttctcgAtggcagttcgggttcggaag	14	10	2	0	rs138851517	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031				p.I639T		.											.	IGSF3-92	0			c.T1916C						.																																			SO:0001583	missense	3321	exon8			TTCTCGATGGCAG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr	Somatic	96	2		WXS	Illumina GAIIx	Phase_I	85	11	NM_001542	0	0	1	1	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC	A|0.500;G|0.500		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117142736	A	G	117142736	3	3	29	1	0	0	0	0	1	0	0	0	7628	333	12	4	1748	4	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	69533247	117142736	132107885	3	5176											
LCE1F	353137	hgsc.bcm.edu	37	chr1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	TGGCTC	-													gtcagctccggaggctgctgTggctccagctctgggggctg					rs544759833|rs200931119	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	TGGCTC	TGGCTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:152749003_152749008delTGGCTC	ENST00000334371.2	+	1	156_161	c.156_161delTGGCTC	c.(154-162)tgtggctcc>tgc	p.GS53del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	53					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.68														25	0.00499201	8e-04	0.0058	5008	,	,		15823	0.002		0.001	False		,,,				2504	0.0174				p.52_54del		.											.	LCE1F-68	0			c.156_161del						.			13,4251		0,13,2119						2.4	0.8			40	164,8090		0,164,3963	no	coding	LCE1F	NM_178354.2		0,177,6082	A1A1,A1R,RR		1.9869,0.3049,1.414				177,12341				SO:0001651	inframe_deletion	353137	exon1			CTGCTGTGGCTCC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.156_161delTGGCTC	1.37:g.152749003_152749008delTGGCTC	ENSP00000334187:p.Gly53_Ser54del	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	66	12	NM_178354	0	0	0	0	0		In_Frame_Del	DEL	ENST00000334371.2	37	CCDS1023.1																																																																																			.		0.68	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		-	152749008	TGGCTC	-	152749003	7	5	29	1	0	1	0	1	0	0	0	0	8692	1702	59	0	158	0	LCE1F	1	152749003	In_Frame_Del	DEL	TGGCTC	TCGA-OR-A5K8-01A-11D-A29I-10	35606267	152749003	96501618	4	5177											
HHIPL2	79802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	222721210	222721210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcatagtcagagcaaaaCtcaaggtgcagagggggctg	14	8	3	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:222721210C>A	ENST00000343410.6	-	1	235	c.177G>T	c.(175-177)gaG>gaT	p.E59D		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	59					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)		CAGAGCAAAACTCAAGGTGCA	0.572																																					p.E59D		.											.	HHIPL2-69	0			c.G177T						.						34	37	36					1																	222721210		1913	4125	6038	SO:0001583	missense	79802	exon1			GCAAAACTCAAGG	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.177G>T	1.37:g.222721210C>A	ENSP00000342118:p.Glu59Asp	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	53	43	NM_024746	0	0	0	0	0	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530371	0.13127	.	.	ENSG00000143512	ENST00000343410	T	0.58358	0.34	4.93	-0.324	0.12706	Folate receptor-like (1);	0.240762	0.39407	N	0.001363	T	0.37404	0.1002	L	0.46614	1.455	0.30307	N	0.788878	B	0.06786	0.001	B	0.10450	0.005	T	0.23226	-1.0194	10	0.22109	T	0.4	-21.5326	6.3882	0.21572	0.0:0.5404:0.116:0.3436	.	59	Q6UWX4	HIPL2_HUMAN	D	59	ENSP00000342118:E59D	ENSP00000342118:E59D	E	-	3	2	HHIPL2	220787833	0.101000	0.21875	0.258000	0.24420	0.282000	0.26991	-0.413000	0.07123	-0.384000	0.07845	-0.136000	0.14681	GAG	.		0.572	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222721210	C	A	222721210	3	1	29	1	0	0	0	0	1	0	0	0	7121	564	20	3	2033	3	HHIPL2	1	222721210	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	69972207	222721210	26529411	5	5178											
OR14I1	401994	bcgsc.ca	37	chr1	248845356	248845356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggagcttctgcgagtcaGggagttacggatggatttag	16	5	2	0	rs41311583	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr1:248845356G>T	ENST00000342623.3	-	1	273	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	84			L -> M (in dbSNP:rs41311583).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84M(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTGCGAGTCAGGGAGTTACGG	0.478													T|||	659	0.131589	0.1649	0.0951	5008	,	,		22143	0.128		0.1113	False		,,,				2504	0.137				p.L84M		.											.	OR14I1-46	1	Substitution - Missense(1)	stomach(1)	c.C250A						.	T	MET/LEU	673,3733		44,585,1574	123	105	112		250	-2.5	0	1	dbSNP_127	112	962,7638		55,852,3393	yes	missense	OR14I1	NM_001004734.1	15	99,1437,4967	TT,TG,GG		11.186,15.2746,12.5711	possibly-damaging	84/312	248845356	1635,11371	2203	4300	6503	SO:0001583	missense	401994	exon1			GAGTCAGGGAGTT		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.250C>A	1.37:g.248845356G>T	ENSP00000339726:p.Leu84Met	Somatic	382	3		WXS	Illumina GAIIx	Phase_I	349	12	NM_001004734	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	285	0.1304945054945055	86	0.17479674796747968	38	0.10497237569060773	73	0.12762237762237763	88	0.11609498680738786	.	12.84	2.059125	0.36373	0.152746	0.11186	ENSG00000189181	ENST00000342623	T	0.01422	4.91	3.48	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.205916	0.23414	N	0.048434	T	0.00012	0.0000	M	0.78049	2.395	0.80722	P	0.0	P	0.47545	0.897	P	0.51324	0.666	T	0.25187	-1.0139	9	0.66056	D	0.02	.	6.1146	0.20120	0.1323:0.0:0.3002:0.5675	rs41311583;rs61834347	84	A6ND48	O14I1_HUMAN	M	84	ENSP00000339726:L84M	ENSP00000339726:L84M	L	-	1	2	OR14I1	246911979	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-6.278000	0.00072	-0.723000	0.04915	-1.751000	0.00678	CTG	G|0.876;T|0.124		0.478	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		T	248845356	G	T	248845356	3	4	29	1	0	0	0	0	1	0	0	0	10986	991	35	3	689	3	OR14I1	1	248845356	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	26124146	248845356	405265	6	5179											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	29	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10		7005369	236194004	7	5180											
TTC7A	57217	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	47184029	47184029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcaaactgcattacgtgGagggctcataccgagatgcc	13	10	1	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr2:47184029G>A	ENST00000319190.5	+	3	768	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TTC7A_ENST00000409245.1_Missense_Mutation_p.E100K|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.E134K|RP11-15I20.1_ENST00000607950.1_RNA|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	134					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCATTACGTGGAGGGCTCATA	0.547																																					p.E134K		.											.	TTC7A-136	0			c.G400A						.						176	149	158					2																	47184029		2203	4300	6503	SO:0001583	missense	57217	exon3			TACGTGGAGGGCT	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.400G>A	2.37:g.47184029G>A	ENSP00000316699:p.Glu134Lys	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	144	8	NM_020458	0	0	2	3	1	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143415	0.77888	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850	T;T;T	0.32023	1.89;1.89;1.47	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.056848	0.64402	D	0.000001	T	0.32526	0.0832	M	0.65498	2.005	0.80722	D	1	P;P;B	0.48694	0.914;0.578;0.125	B;B;B	0.41510	0.359;0.254;0.096	T	0.28235	-1.0050	10	0.05351	T	0.99	-27.3006	18.8993	0.92435	0.0:0.0:1.0:0.0	.	134;134;100	Q2T9J9;Q9ULT0;G5E9G4	.;TTC7A_HUMAN;.	K	100;134;134	ENSP00000386307:E100K;ENSP00000316699:E134K;ENSP00000378320:E134K	ENSP00000316699:E134K	E	+	1	0	TTC7A	47037533	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.279000	0.72620	2.768000	0.95171	0.561000	0.74099	GAG	.		0.547	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47184029	G	A	47184029	3	1	29	1	0	0	0	0	1	0	0	0	16761	1175	41	3	410	3	TTC7A	2	47184029	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	40178660	47184029	196015344	8	5181											
RNF149	284996	hgsc.bcm.edu	37	chr2	101925026	101925026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgcgagccccgacgcTggcttcgcgccgccgccacg	13	21	0	0	rs11123868	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr2:101925026T>C	ENST00000295317.3	-	1	132	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	9			S -> G (in dbSNP:rs11123868). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCCCCGACGCTGGCTTCGCGC	0.726													C|||	2397	0.478634	0.7678	0.4582	5008	,	,		13525	0.3175		0.3917	False		,,,				2504	0.3579				p.S9G	Colon(25;331 612 6521 7355 31028)	.											.	RNF149-290	0			c.A25G						.	C	GLY/SER	1794,1350		547,700,325	4	6	5		25	-2.5	0	2	dbSNP_120	5	2382,4344		496,1390,1477	no	missense	RNF149	NM_173647.3	56	1043,2090,1802	CC,CT,TT		35.4148,42.9389,42.31	benign	9/401	101925026	4176,5694	1572	3363	4935	SO:0001583	missense	284996	exon1			CGACGCTGGCTTC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.25A>G	2.37:g.101925026T>C	ENSP00000295317:p.Ser9Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_173647	0	0	0	0	0	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	1023	0.4684065934065934	378	0.7682926829268293	162	0.44751381215469616	189	0.3304195804195804	294	0.38786279683377306	C	1.566	-0.535355	0.04082	0.570611	0.354148	ENSG00000163162	ENST00000295317	T	0.08634	3.07	3.96	-2.45	0.06481	.	4.553570	0.01792	N	0.032390	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	0.16896	T	0.51	.	7.6769	0.28490	0.0:0.1603:0.4369:0.4028	rs11123868;rs17856944;rs56755384	9	Q8NC42	RN149_HUMAN	G	9	ENSP00000295317:S9G	ENSP00000295317:S9G	S	-	1	0	RNF149	101291458	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.581000	0.05820	-0.783000	0.04534	-0.374000	0.07098	AGC	T|0.543;C|0.457		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		C	101925026	T	C	101925026	3	2	29	1	0	0	0	0	1	0	0	0	13495	1580	55	4	1205	4	RNF149	2	101925026	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	54740997	101925026	141274347	9	5182											
SPAG16	79582	bcgsc.ca	37	chr2	214794743	214794743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaattatgggatctatgtaAaggcgattgcattttgacct	9	5	1	1	rs12623569	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr2:214794743A>C	ENST00000331683.5	+	12	1369	c.1274A>C	c.(1273-1275)aAa>aCa	p.K425T	SPAG16_ENST00000374309.3_Missense_Mutation_p.K331T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	425			K -> T (in dbSNP:rs12623569). {ECO:0000269|PubMed:11867345, ECO:0000269|PubMed:12391165}.		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)		GATCTATGTAAAGGCGATTGC	0.428													A|||	1386	0.276757	0.2738	0.3112	5008	,	,		17159	0.4067		0.2843	False		,,,				2504	0.1145				p.K425T		.											.	SPAG16-188	0			c.A1274C						.	A	THR/LYS	1197,3209	419.6+/-338.7	147,903,1153	119	117	118		1274	4.3	0.6	2	dbSNP_120	118	2253,6347	382.3+/-340.3	295,1663,2342	yes	missense	SPAG16	NM_024532.3	78	442,2566,3495	CC,CA,AA		26.1977,27.1675,26.5262	benign	425/632	214794743	3450,9556	2203	4300	6503	SO:0001583	missense	79582	exon12			TATGTAAAGGCGA	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.1274A>C	2.37:g.214794743A>C	ENSP00000332592:p.Lys425Thr	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	133	6	NM_024532	0	0	0	0	0	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	653	0.298992673992674	114	0.23170731707317074	110	0.30386740331491713	220	0.38461538461538464	209	0.2757255936675462	A	9.017	0.983924	0.18889	0.271675	0.261977	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.78707	-1.2;-1.2	5.48	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.277074	0.29466	N	0.012065	T	0.00012	0.0000	N	0.02181	-0.65	0.27912	P	0.9385632	B;B;B;B	0.17667	0.008;0.023;0.002;0.008	B;B;B;B	0.19391	0.011;0.025;0.002;0.011	T	0.12708	-1.0537	9	0.02654	T	1	.	11.4259	0.50009	0.8484:0.1516:0.0:0.0	rs12623569;rs52808897;rs59619307;rs12623569	331;276;365;425	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	T	425;331	ENSP00000332592:K425T;ENSP00000363428:K331T	ENSP00000332592:K425T	K	+	2	0	SPAG16	214502988	0.999000	0.42202	0.563000	0.28383	0.260000	0.26232	2.907000	0.48743	0.864000	0.35578	0.533000	0.62120	AAA	A|0.722;C|0.278		0.428	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		C	214794743	A	C	214794743	3	2	29	1	0	0	0	0	1	0	0	0	15025	14	1	5	1336	5	SPAG16	2	214794743	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	112869717	214794743	28404630	10	5183											
LRRN1	57633	broad.mit.edu;bcgsc.ca	37	chr3	3887575	3887575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagttttaatccaggAttcgagtgaacagtgcctcc	11	8	0	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr3:3887575A>T	ENST00000319331.3	+	2	2011	c.1250A>T	c.(1249-1251)gAt>gTt	p.D417V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	417	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTAATCCAGGATTCGAGTGAA	0.498																																					p.D417V		.											.	LRRN1-90	0			c.A1250T						.						100	101	101					3																	3887575		2203	4300	6503	SO:0001583	missense	57633	exon2			TCCAGGATTCGAG	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1250A>T	3.37:g.3887575A>T	ENSP00000314901:p.Asp417Val	Somatic	125	2		WXS	Illumina GAIIx	Phase_I	104	86	NM_020873	0	0	0	0	0	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863953	0.51482	.	.	ENSG00000175928	ENST00000319331	T	0.59638	0.25	5.65	5.65	0.86999	Cysteine-rich flanking region, C-terminal (1);	0.256102	0.44483	D	0.000448	T	0.45756	0.1358	L	0.40543	1.245	0.80722	D	1	P	0.36465	0.554	B	0.23716	0.048	T	0.45026	-0.9289	10	0.36615	T	0.2	.	15.8761	0.79162	1.0:0.0:0.0:0.0	.	417	Q6UXK5	LRRN1_HUMAN	V	417	ENSP00000314901:D417V	ENSP00000314901:D417V	D	+	2	0	LRRN1	3862575	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	5.287000	0.65645	2.153000	0.67306	0.528000	0.53228	GAT	.		0.498	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		T	3887575	A	T	3887575	3	4	29	1	0	0	0	0	1	0	0	0	9069	333	12	5	1252	5	LRRN1	3	3887575	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10		3887575	194134855	11	5184											
UBP1	7342	bcgsc.ca	37	chr3	33458266	33458266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttactaattttccaTtgatctcaggcatatcaccc	3	12	2	1	rs3736563	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr3:33458266T>C	ENST00000283629.3	-	3	855	c.326A>G	c.(325-327)aAt>aGt	p.N109S	UBP1_ENST00000283628.5_Missense_Mutation_p.N109S|UBP1_ENST00000447368.2_Missense_Mutation_p.N109S|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	109			N -> S (in dbSNP:rs3736563). {ECO:0000269|PubMed:8114710}.		angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAATTTTCCATTGATCTCAGG	0.294													C|||	2399	0.479034	0.5333	0.5605	5008	,	,		18916	0.6091		0.3141	False		,,,				2504	0.3834				p.N109S		.											.	UBP1-537	0			c.A326G						.	C	SER/ASN,SER/ASN,SER/ASN	2363,2043	566.7+/-382.0	610,1143,450	104	107	106		326,326,326	4	1	3	dbSNP_107	106	2423,6175	697.0+/-404.9	332,1759,2208	yes	missense,missense,missense	UBP1	NM_001128160.1,NM_001128161.1,NM_014517.4	46,46,46	942,2902,2658	CC,CT,TT		28.181,46.3686,36.8041	benign,benign,benign	109/505,109/541,109/541	33458266	4786,8218	2203	4299	6502	SO:0001583	missense	7342	exon3			TTTCCATTGATCT	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.326A>G	3.37:g.33458266T>C	ENSP00000283629:p.Asn109Ser	Somatic	337	5		WXS	Illumina GAIIx	Phase_I	232	7	NM_001128160	0	0	1	1	0	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	993	0.45467032967032966	253	0.5142276422764228	182	0.5027624309392266	309	0.5402097902097902	249	0.32849604221635886	C	2.681	-0.275386	0.05679	0.536314	0.28181	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.73	3.95	0.45737	CP2 transcription factor (1);	0.144057	0.64402	N	0.000005	T	0.00012	0.0000	N	0.03608	-0.345	0.44247	P	0.002905999999999964	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.44590	-0.9318	9	0.07325	T	0.83	-11.4831	2.3834	0.04360	0.113:0.4797:0.1756:0.2318	rs3736563;rs57275094;rs3736563	109;109	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	S	109	ENSP00000283629:N109S;ENSP00000395558:N109S;ENSP00000283628:N109S;ENSP00000401614:N109S	ENSP00000283628:N109S	N	-	2	0	UBP1	33433270	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	1.041000	0.30291	0.464000	0.27142	-0.119000	0.15052	AAT	T|0.585;C|0.415		0.294	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		C	33458266	T	C	33458266	3	2	29	1	0	0	0	0	1	0	0	0	16944	1493	52	4	1352	4	UBP1	3	33458266	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	29570691	33458266	164564164	12	5185											
CHDH	55349	hgsc.bcm.edu	37	chr3	53857917	53857917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccacatagctgtacTcgtcccggctctcagagcct	7	18	1	1	rs9001	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr3:53857917T>G	ENST00000315251.6	-	3	556	c.119A>C	c.(118-120)gAg>gCg	p.E40A		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	40			E -> A (in dbSNP:rs9001).		glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ATAGCTGTACTCGTCCCGGCT	0.761													T|||	1221	0.24381	0.3238	0.2781	5008	,	,		12724	0.3651		0.1004	False		,,,				2504	0.1339				p.E40A		.											.	CHDH-91	0			c.A119C						.	T	ALA/GLU	816,2768		76,664,1052	6	6	6		119	3.8	1	3	dbSNP_52	6	469,6875		12,445,3215	no	missense	CHDH	NM_018397.4	107	88,1109,4267	GG,GT,TT		6.3862,22.7679,11.7588	possibly-damaging	40/595	53857917	1285,9643	1792	3672	5464	SO:0001583	missense	55349	exon3			CTGTACTCGTCCC	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.119A>C	3.37:g.53857917T>G	ENSP00000319851:p.Glu40Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_018397	0	0	0	0	0	Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	536	0.2454212454212454	164	0.3333333333333333	82	0.2265193370165746	201	0.3513986013986014	89	0.11741424802110818	T	14.21	2.467073	0.43839	0.227679	0.063862	ENSG00000016391	ENST00000315251;ENST00000481668;ENST00000467802	T;T;T	0.68479	-0.33;1.42;-0.33	5.03	3.8	0.43715	.	0.330341	0.32134	N	0.006528	T	0.00012	0.0000	N	0.08118	0	0.37702	P	0.07576799999999995	B	0.17465	0.022	B	0.12156	0.007	T	0.12372	-1.0550	9	0.56958	D	0.05	-41.8442	8.4332	0.32771	0.0:0.0:0.1978:0.8022	rs9001;rs3172489;rs58735855;rs9001	40	Q8NE62	CHDH_HUMAN	A	40	ENSP00000319851:E40A;ENSP00000418273:E40A;ENSP00000419863:E40A	ENSP00000319851:E40A	E	-	2	0	CHDH	53832957	0.187000	0.23238	0.988000	0.46212	0.816000	0.46133	1.016000	0.29976	2.240000	0.73641	0.533000	0.62120	GAG	T|0.749;G|0.251		0.761	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		G	53857917	T	G	53857917	3	3	29	1	0	0	0	0	1	0	0	0	3340	1551	54	5	1693	5	CHDH	3	53857917	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	20399651	53857917	144164513	13	5186											
CD200	4345	bcgsc.ca	37	chr3	112068596	112068596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctattgctaagcattgtTtccctggtaattcttctcgt	7	11	2	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr3:112068596T>C	ENST00000315711.8	+	5	789	c.732T>C	c.(730-732)gtT>gtC	p.V244V	CD200_ENST00000473539.1_Silent_p.V269V|CD200_ENST00000383681.3_Silent_p.V170V	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	244					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TAAGCATTGTTTCCCTGGTAA	0.393																																					p.V269V		.											.	CD200-90	0			c.T807C						.						132	118	123					3																	112068596		2203	4300	6503	SO:0001819	synonymous_variant	4345	exon6			CATTGTTTCCCTG		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.732T>C	3.37:g.112068596T>C		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_001004196	0	0	2	2	0	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Silent	SNP	ENST00000315711.8	37	CCDS2965.1																																																																																			.		0.393	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			C	112068596	T	C	112068596	2	2	29	1	0	0	0	0	0	0	0	1	2987	1828	64	4		4	CD200	3	112068596	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	58210679	112068596	85953834	14	5187											
GPR156	165829	hgsc.bcm.edu;bcgsc.ca	37	chr3	119962580	119962580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaatacccaagaggacaGgagataatgaagagatggtc	11	6	0	4			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr3:119962580G>T	ENST00000464295.1	-	3	585	c.140C>A	c.(139-141)cCt>cAt	p.P47H	GPR156_ENST00000461057.1_Missense_Mutation_p.P47H|GPR156_ENST00000315843.3_Missense_Mutation_p.P47H			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAAGAGGACAGGAGATAATGA	0.423																																					p.P47H		.											.	GPR156-92	0			c.C140A						.						134	119	124					3																	119962580		2203	4300	6503	SO:0001583	missense	165829	exon2			AGGACAGGAGATA	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.140C>A	3.37:g.119962580G>T	ENSP00000417261:p.Pro47His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_001168271	0	0	0	0	0	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983090	0.74474	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.25749	1.78;1.78;1.79	5.2	5.2	0.72013	.	0.098068	0.42964	D	0.000633	T	0.34948	0.0915	L	0.27053	0.805	0.46631	D	0.999136	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.01935	-1.1244	9	.	.	.	-15.8483	14.1778	0.65555	0.0:0.0:1.0:0.0	.	47;47	E9PFZ4;Q8NFN8	.;GP156_HUMAN	H	47	ENSP00000417261:P47H;ENSP00000324553:P47H;ENSP00000418758:P47H	.	P	-	2	0	GPR156	121445270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.717000	0.68446	2.719000	0.93026	0.650000	0.86243	CCT	.		0.423	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		T	119962580	G	T	119962580	3	4	29	1	0	0	0	0	1	0	0	0	6687	1000	35	3	2336	3	GPR156	3	119962580	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	7893984	119962580	78059850	15	5188											
MFSD7	84179	hgsc.bcm.edu	37	chr4	675949	675949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctagcgaggcccccctcGccgtgcactccggagtcgcc	11	20	1	0	rs183765686	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:675949G>A	ENST00000404286.2	-	10	1496	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	MFSD7_ENST00000515118.1_Missense_Mutation_p.A397V|MFSD7_ENST00000503156.1_Nonsense_Mutation_p.R416*|MFSD7_ENST00000322224.4_Missense_Mutation_p.A493V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A375V	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	494					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCCCCCCTCGCCGTGCACTC	0.761													G|||	30	0.00599042	0.0023	0.0086	5008	,	,		8836	0		0.0169	False		,,,				2504	0.0041				p.A493V		.											.	MFSD7-90	0			c.C1478T						.	G	VAL/ALA	8,3458		0,8,1725	3	4	3		1478	-3.8	0	4		3	112,7148		0,112,3518	no	missense	MFSD7	NM_032219.2	64	0,120,5243	AA,AG,GG		1.5427,0.2308,1.1188	possibly-damaging	493/560	675949	120,10606	1733	3630	5363	SO:0001583	missense	84179	exon10			CCCCTCGCCGTGC	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1481C>T	4.37:g.675949G>A	ENSP00000384616:p.Ala494Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_032219	0	0	0	0	0	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		20|20	0.009157509157509158|0.009157509157509158	1|1	0.0020325203252032522|0.0020325203252032522	5|5	0.013812154696132596|0.013812154696132596	0|0	0.0|0.0	14|14	0.018469656992084433|0.018469656992084433	G|G	14.57|14.57	2.575772|2.575772	0.45902|0.45902	0.002308|0.002308	0.015427|0.015427	ENSG00000169026|ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118|ENST00000503156	D;D;D;D|.	0.96136|.	-3.61;-3.06;-3.07;-3.92|.	1.9|1.9	-3.81|-3.81	0.04294|0.04294	.|.	.|.	.|.	.|.	.|.	T|.	0.04092|.	0.0114|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19583|.	0.037;0.037;0.008;0.013|.	B;B;B;B|.	0.15870|.	0.014;0.014;0.003;0.008|.	T|.	0.25187|.	-1.0139|.	9|.	0.48119|0.02654	T|T	0.1|1	.|.	0.6961|0.6961	0.00899|0.00899	0.1916:0.1374:0.4297:0.2413|0.1916:0.1374:0.4297:0.2413	.|.	397;375;494;493|.	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2|.	.;.;MFSD7_HUMAN;.|.	V|X	375;493;494;397|416	ENSP00000307545:A375V;ENSP00000320234:A493V;ENSP00000384616:A494V;ENSP00000423204:A397V|.	ENSP00000320234:A493V|ENSP00000425753:R416X	A|R	-|-	2|1	0|2	MFSD7|MFSD7	665949|665949	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.755000|-2.755000	0.00789|0.00789	-1.937000|-1.937000	0.01047|0.01047	-0.523000|-0.523000	0.04350|0.04350	GCG|CGA	G|0.991;A|0.009		0.761	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		A	675949	G	A	675949	3	1	29	1	0	0	0	0	1	0	0	0	9575	1087	38	1	205	1	MFSD7	4	675949	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		675949	190478327	16	5189											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388726	1388726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgcccaTgcggagtgcccgcctgctca	11	18	2	0	rs199689156	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:1388726T>C	ENST00000324803.4	+	1	3387	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697																																					p.C143R		.											.	CRIPAK-90	0			c.T427C						.						38	37	37					4																	1388726		1908	3685	5593	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.427T>C	4.37:g.1388726T>C	ENSP00000323978:p.Cys143Arg	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	163	10	NM_175918	0	0	5	5	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.608|8.608	0.888529|0.888529	0.17540|0.17540	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	0.948|0.948	-0.668|-0.668	0.11392|0.11392	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.27594|.	0.182|.	B|.	0.13407|.	0.009|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|6	0.51188|0.06365	T|T	0.08|0.9	.|.	4.4755|4.4755	0.11733|0.11733	0.0:0.2357:0.0:0.7643|0.0:0.2357:0.0:0.7643	.|.	143|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	143|126	ENSP00000323978:C143R|.	ENSP00000323978:C143R|ENSP00000372402:M126T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378726|1378726	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.703000|-0.703000	0.05063|0.05063	-0.155000|-0.155000	0.11098|0.11098	0.102000|0.102000	0.15555|0.15555	TGC|ATG	T|0.980;C|0.020		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388726	T	C	1388726	3	2	29	1	0	0	0	0	1	0	0	0	3884	1464	51	4	429	4	CRIPAK	4	1388726	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	712777	1388726	189765550	17	5190											
FAM53A	152877	hgsc.bcm.edu	37	chr4	1656850	1656850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccgcccagcgcaggcGtggacgtggggctgctgctg	19	14	0	0	rs62287701	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:1656850G>A	ENST00000308132.6	-	4	929	c.737C>T	c.(736-738)aCg>aTg	p.T246M	FAM53A_ENST00000489363.1_Missense_Mutation_p.T246M|FAM53A_ENST00000472884.2_Missense_Mutation_p.T246M|FAM53A_ENST00000461064.1_Missense_Mutation_p.T246M	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	246						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CAGCGCAGGCGTGGACGTGGG	0.736													G|||	21	0.00419329	0	0.0029	5008	,	,		11110	0		0.0189	False		,,,				2504	0				p.T246M		.											.	FAM53A-90	0			c.C737T						.	G	MET/THR,MET/THR	9,4343		0,9,2167	9	9	9		737,737	3.8	0	4	dbSNP_129	9	105,8301		0,105,4098	no	missense,missense	FAM53A	NM_001013622.3,NM_001174070.1	81,81	0,114,6265	AA,AG,GG		1.2491,0.2068,0.8936	probably-damaging,probably-damaging	246/399,246/399	1656850	114,12644	2176	4203	6379	SO:0001583	missense	152877	exon4			GCAGGCGTGGACG	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.737C>T	4.37:g.1656850G>A	ENSP00000310057:p.Thr246Met	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	47	18	NM_001013622	0	0	0	1	1	Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	CCDS33939.1	18|18	0.008241758241758242|0.008241758241758242	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	16|16	0.021108179419525065|0.021108179419525065	G|G	14.41|14.41	2.527505|2.527505	0.44969|0.44969	0.002068|0.002068	0.012491|0.012491	ENSG00000174137|ENSG00000174137	ENST00000489029|ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884	.|T;T;T;T	.|0.56941	.|0.43;0.43;0.43;0.43	4.61|4.61	3.77|3.77	0.43336|0.43336	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.56381|0.56381	0.1981|0.1981	M|M	0.76838|0.76838	2.35|2.35	0.48571|0.48571	D|D	0.999677|0.999677	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69698|0.69698	-0.5075|-0.5075	5|10	.|0.87932	.|D	.|0	-27.8013|-27.8013	12.5895|12.5895	0.56436|0.56436	0.081:0.0:0.919:0.0|0.081:0.0:0.919:0.0	rs62287701|rs62287701	.|246;246	.|Q6NSI3;C9JYQ7	.|FA53A_HUMAN;.	C|M	96|246	.|ENSP00000310057:T246M;ENSP00000419044:T246M;ENSP00000418243:T246M;ENSP00000426260:T246M	.|ENSP00000310057:T246M	R|T	-|-	1|2	0|0	FAM53A|FAM53A	1626647|1626647	1.000000|1.000000	0.71417|0.71417	0.034000|0.034000	0.17996|0.17996	0.011000|0.011000	0.07611|0.07611	6.373000|6.373000	0.73128|0.73128	0.947000|0.947000	0.37659|0.37659	-0.251000|-0.251000	0.11542|0.11542	CGC|ACG	G|0.991;A|0.009		0.736	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		A	1656850	G	A	1656850	3	1	29	1	0	0	0	0	1	0	0	0	5601	1145	40	1	467	1	FAM53A	4	1656850	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	268124	1656850	189497426	18	5191											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	80	15	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	29	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	2571606	4228456	186925820	19	5192			1	25		2	2	17	N	T_G	5.168372e-05
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228472	4228472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccggggggccggggaTtccggggacctcggggccga	20	15	0	0	rs76810534		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	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)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3	4	4					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	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.120A>G	4.37:g.4228472T>C		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	57	12	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228472	T	C	4228472	2	2	29	1	0	0	0	0	0	0	0	1	11344	1490	52	4		4	OTOP1	4	4228472	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	16	4228472	186925804	20	5193			1	25		2	2	17	N	T_G	5.168372e-05
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	6	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	29	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	73589730	77818202	113336074	21	5194											
KIAA0922	23240	bcgsc.ca	37	chr4	154513627	154513627	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcctcacacctagAtcaagtactttgtggtgcag	7	10	3	1	rs7669418	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:154513627A>G	ENST00000409663.3	+	18	1862	c.1810A>G	c.(1810-1812)Atc>Gtc	p.I604V	KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409959.3_Splice_Site_p.I605V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	604			I -> V (in dbSNP:rs7669418).			integral component of membrane (GO:0016021)		p.I457V(1)		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)				TCACACCTAGATCAAGTACTT	0.498													G|||	1130	0.225639	0.1483	0.2147	5008	,	,		19400	0.2361		0.3072	False		,,,				2504	0.2434				p.I605V		.											.	KIAA0922-92	1	Substitution - Missense(1)	stomach(1)	c.A1813G						.	G	VAL/ILE,VAL/ILE	794,3612	751.2+/-412.2	66,662,1475	124	104	111		1813,1810	3.5	1	4	dbSNP_116	111	2670,5930	684.2+/-403.9	426,1818,2056	yes	missense-near-splice,missense-near-splice	KIAA0922	NM_001131007.1,NM_015196.3	29,29	492,2480,3531	GG,GA,AA		31.0465,18.0209,26.6339	benign,benign	605/1611,604/1610	154513627	3464,9542	2203	4300	6503	SO:0001630	splice_region_variant	23240	exon18			ACCTAGATCAAGT	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.1810-1A>G	4.37:g.154513627A>G		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	75	7	NM_001131007	0	0	0	0	0	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	563	0.25778388278388276	67	0.13617886178861788	94	0.2596685082872928	157	0.2744755244755245	245	0.3232189973614776	G	0.015	-1.540589	0.00934	0.180209	0.310465	ENSG00000121210	ENST00000409663;ENST00000409959	T;T	0.12039	2.72;2.73	4.41	3.55	0.40652	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00380	-1.58	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43782	-0.9370	8	.	.	.	-6.4731	10.0083	0.41970	0.0758:0.138:0.7862:0.0	rs7669418;rs17370255;rs57147535;rs7669418	605;604	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	V	604;605	ENSP00000386574:I604V;ENSP00000386787:I605V	.	I	+	1	0	KIAA0922	154733077	1.000000	0.71417	0.992000	0.48379	0.002000	0.02628	6.044000	0.71012	0.596000	0.29794	-0.834000	0.03071	ATC	A|0.743;G|0.257		0.498	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	Missense_Mutation	G	154513627	A	G	154513627	5	3	29	1	0	0	0	0	0	0	1	0	8228	347	12	4	1883	4	KIAA0922	4	154513627	Splice_Site	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	76695425	154513627	36640649	22	5195											
NAF1	92345	hgsc.bcm.edu	37	chr4	164050186	164050186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtttggtgtagcccaacCcatgtttacaggtgggggtg	14	8	0	0	rs200516616	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr4:164050186C>T	ENST00000274054.2	-	8	1541	c.1348G>A	c.(1348-1350)Ggt>Agt	p.G450S	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	450	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)				GTAGCCCAACCCATGTTTACA	0.552													C|||	4	0.000798722	0	0.0014	5008	,	,		4832	0		0.003	False		,,,				2504	0				p.G450S		.											.	NAF1-70	0			c.G1348A						.	C	,SER/GLY	4,4130		0,4,2063	7	6	6		,1348	-0.6	0.4	4		6	49,7983		0,49,3967	yes	intron,missense	NAF1	NM_001128931.1,NM_138386.2	,56	0,53,6030	TT,TC,CC		0.6101,0.0968,0.4356	,benign	,450/495	164050186	53,12113	2067	4016	6083	SO:0001583	missense	92345	exon8			CCCAACCCATGTT		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.1348G>A	4.37:g.164050186C>T	ENSP00000274054:p.Gly450Ser	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_138386	0	0	0	0	0	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	2.898	-0.228083	0.06022	9.68E-4	0.006101	ENSG00000145414	ENST00000274054	T	0.32272	1.46	4.26	-0.646	0.11472	.	1.456920	0.03892	N	0.278939	T	0.12603	0.0306	N	0.19112	0.55	0.21933	N	0.999467	B	0.26081	0.141	B	0.17722	0.019	T	0.13602	-1.0503	10	0.18710	T	0.47	-1.8427	5.522	0.16938	0.0:0.4943:0.1432:0.3625	.	450	Q96HR8	NAF1_HUMAN	S	450	ENSP00000274054:G450S	ENSP00000274054:G450S	G	-	1	0	NAF1	164269636	0.055000	0.20627	0.425000	0.26659	0.250000	0.25880	0.024000	0.13555	-0.312000	0.08741	-2.411000	0.00221	GGT	.		0.552	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		T	164050186	C	T	164050186	3	4	29	1	0	0	0	0	1	0	0	0	10178	623	22	3	281	3	NAF1	4	164050186	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	9536559	164050186	27104090	23	5196											
IRX4	50805	hgsc.bcm.edu	37	chr5	1882129	1882129	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgccagcgtgcggccTccggactcgcagcacgtgct	14	16	0	0	rs2232374	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr5:1882129T>G	ENST00000505790.1	-	3	546	c.90A>C	c.(88-90)ggA>ggC	p.G30G	IRX4_ENST00000513692.1_Silent_p.G30G|CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000231357.2_Silent_p.G30G|IRX4_ENST00000505938.1_5'Flank	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	30					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCGTGCGGCCTCCGGACTCGC	0.741													N|||	1389	0.277356	0.2821	0.3141	5008	,	,		10764	0.3313		0.2177	False		,,,				2504	0.2505				p.G30G		.											.	IRX4-226	0			c.A90C						.			440,2456		29,382,1037	2	2	2		90	-2.3	0	5	dbSNP_98	2	967,5425		81,805,2310	no	coding-synonymous	IRX4	NM_016358.2		110,1187,3347	GG,GT,TT		15.1283,15.1934,15.1486		30/520	1882129	1407,7881	1448	3196	4644	SO:0001819	synonymous_variant	50805	exon2			GCGGCCTCCGGAC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.90A>C	5.37:g.1882129T>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	CCDS3867.1																																																																																			T|0.735;G|0.265		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		G	1882129	T	G	1882129	2	3	29	1	0	0	0	0	0	0	0	1	7873	1538	54	5		5	IRX4	5	1882129	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10		1882129	179033131	24	5197											
SNX18	112574	hgsc.bcm.edu	37	chr5	53814052	53814052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgagcccctgccTgtcgcgccccccgcctcctt	12	20	0	0	rs2548615	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr5:53814052T>C	ENST00000326277.3	+	1	460	c.270T>C	c.(268-270)ccT>ccC	p.P90P	SNX18_ENST00000343017.6_Silent_p.P90P|SNX18_ENST00000381410.4_Silent_p.P90P	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	90					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCCCCTGCCTGTCGCGCCCC	0.791													N|||	4953	0.989018	0.9728	0.9942	5008	,	,		9287	1		0.9901	False		,,,				2504	0.9949				p.P90P		.											.	SNX18-226	0			c.T270C						.	C	,,	1635,19		808,19,0	1	2	2		270,270,270	-2.1	0.2	5	dbSNP_100	2	4035,67		1984,67,0	no	coding-synonymous,coding-synonymous,coding-synonymous	SNX18	NM_001102575.1,NM_001145427.1,NM_052870.2	,,	2792,86,0	CC,CT,TT		1.6333,1.1487,1.4941	,,	90/625,90/592,90/629	53814052	5670,86	827	2051	2878	SO:0001819	synonymous_variant	112574	exon1			CCTGCCTGTCGCG	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.270T>C	5.37:g.53814052T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_052870	0	0	0	0	0	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	CCDS3962.1																																																																																			G|0.979;C|0.003		0.791	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			C	53814052	T	C	53814052	2	2	29	1	0	0	0	0	0	0	0	1	14934	1567	55	4		4	SNX18	5	53814052	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	51931923	53814052	127101208	25	5198											
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79029401	79029401	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatcttctacagctcagggaGacttcccatcagaaaaacaa	6	11	4	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr5:79029401G>C	ENST00000446378.2	+	2	4844	c.4813G>C	c.(4813-4815)Gac>Cac	p.D1605H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1605					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTCAGGGAGACTTCCCATC	0.453																																					p.D1605H		.											.	CMYA5-77	0			c.G4813C						.						118	117	117					5																	79029401		1875	4115	5990	SO:0001583	missense	202333	exon2			CAGGGAGACTTCC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4813G>C	5.37:g.79029401G>C	ENSP00000394770:p.Asp1605His	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	135	42	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785602	0.31593	.	.	ENSG00000164309	ENST00000446378	T	0.03889	3.77	5.1	-0.201	0.13212	.	1.157780	0.06326	N	0.705393	T	0.02970	0.0088	N	0.17082	0.46	0.09310	N	1	B	0.20887	0.049	B	0.17722	0.019	T	0.47156	-0.9139	10	0.30854	T	0.27	.	1.6952	0.02860	0.2792:0.1399:0.4386:0.1423	.	1605	Q8N3K9	CMYA5_HUMAN	H	1605	ENSP00000394770:D1605H	ENSP00000394770:D1605H	D	+	1	0	CMYA5	79065157	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.153000	0.10144	0.182000	0.20032	0.655000	0.94253	GAC	.		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79029401	G	C	79029401	3	2	29	1	0	0	0	0	1	0	0	0	3597	942	33	3	4819	3	CMYA5	5	79029401	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	25215349	79029401	101885859	26	5199											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgagcagcgccgcAgccccgggctctgccccccg	14	19	1	1	rs2662263	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.S63R|RGMB-AS1_ENST00000498871.2_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000505677.1_RNA			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1	0.9885	5008	,	,		8183	1		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1	1	1					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98109838	A	C	98109838	3	2	29	1	0	0	0	0	1	0	0	0	13326	188	7	5	193	5	RGMB	5	98109838	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	19080437	98109838	82805422	27	5200											
ATP10B	23120	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	160049541	160049541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggtctccaaccacagggCagcatctcgaaccttggtca	9	14	3	0	rs571308932		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr5:160049541C>A	ENST00000327245.5	-	14	2518	c.1672G>T	c.(1672-1674)Gcc>Tcc	p.A558S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	558					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)			AACCACAGGGCAGCATCTCGA	0.498																																					p.A558S		.											.	ATP10B-72	0			c.G1672T						.						103	106	105					5																	160049541		1970	4158	6128	SO:0001583	missense	23120	exon14			ACAGGGCAGCATC	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.1672G>T	5.37:g.160049541C>A	ENSP00000313600:p.Ala558Ser	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	169	54	NM_025153	0	0	0	0	0	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	8.494	0.862656	0.17178	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.42131	0.98;2.06	5.53	4.61	0.57282	HAD-like domain (1);	0.482862	0.21082	N	0.080473	T	0.35480	0.0933	L	0.33137	0.985	0.33384	D	0.575282	P;B	0.36753	0.568;0.022	B;B	0.41332	0.354;0.033	T	0.45425	-0.9262	9	.	.	.	.	12.3461	0.55122	0.2897:0.7102:0.0:0.0	.	166;558	Q2YDW8;O94823	.;AT10B_HUMAN	S	558;166	ENSP00000313600:A558S;ENSP00000431081:A166S	.	A	-	1	0	ATP10B	159982119	0.068000	0.21057	1.000000	0.80357	0.881000	0.50899	0.158000	0.16422	2.596000	0.87737	0.655000	0.94253	GCC	.		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160049541	C	A	160049541	3	1	29	1	0	0	0	0	1	0	0	0	1118	710	25	3	2765	3	ATP10B	5	160049541	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	61939703	160049541	20865719	28	5201											
DAXX	1616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33288624	33288624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgagccatgagctGgagctgctgtcgggggaggc	18	10	0	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:33288624G>A	ENST00000374542.5	-	3	1132	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	DAXX_ENST00000266000.6_Nonsense_Mutation_p.Q310*|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Nonsense_Mutation_p.Q235*|DAXX_ENST00000477162.1_Intron	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	310	Interaction with histone H3.3.				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						GCCATGAGCTGGAGCTGCTGT	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.Q322X		.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	.	DAXX-731	0			c.C964T						.						93	87	89					6																	33288624		2203	4300	6503	SO:0001587	stop_gained	1616	exon3			TGAGCTGGAGCTG	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.928C>T	6.37:g.33288624G>A	ENSP00000363668:p.Gln310*	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	78	63	NM_001141970	0	0	0	0	0	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Nonsense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547026	0.96488	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	4.67	0.58626	.	0.264789	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-20.8506	10.9009	0.47051	0.0:0.19:0.81:0.0	.	.	.	.	X	310;310;235	.	ENSP00000266000:Q310X	Q	-	1	0	DAXX	33396602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.552000	0.36244	2.437000	0.82529	0.643000	0.83706	CAG	.		0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33288624	G	A	33288624	4	1	29	1	0	0	0	0	0	1	0	0	4252	1357	47	3	1318	3	DAXX	6	33288624	Nonsense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		33288624	137826443	29	5202											
SYNGAP1	8831	bcgsc.ca	37	chr6	33408542	33408542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaggtgtttgcttcGtggcggctgcgctgcgcaga	17	9	0	2	rs587780472|rs411136	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:33408542G>A	ENST00000418600.2	+	11	1814	c.1713G>A	c.(1711-1713)tcG>tcA	p.S571S	SYNGAP1_ENST00000428982.2_Silent_p.S512S|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.S571S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	571	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S556S(1)|p.S571S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTTTGCTTCGTGGCGGCTGC	0.632													G|||	2192	0.4377	0.2716	0.4035	5008	,	,		17633	0.6319		0.3837	False		,,,				2504	0.5419				p.S571S		.											.	SYNGAP1-48	2	Substitution - coding silent(2)	stomach(2)	c.G1713A						.	G		1228,3176		187,854,1161	23	23	23		1713	-10.5	0.2	6	dbSNP_80	23	3424,5172		694,2036,1568	no	coding-synonymous	SYNGAP1	NM_006772.2		881,2890,2729	AA,AG,GG		39.8325,27.8837,35.7846		571/1344	33408542	4652,8348	2202	4298	6500	SO:0001819	synonymous_variant	8831	exon11			TGCTTCGTGGCGG	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1713G>A	6.37:g.33408542G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	46	5	NM_006772	0	0	1	1	0	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																			G|0.608;A|0.392		0.632	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33408542	G	A	33408542	2	1	29	1	0	0	0	0	0	0	0	1	15494	1132	40	1		1	SYNGAP1	6	33408542	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	119918	33408542	137706525	30	5203											
C6orf167	253714	ucsc.edu;bcgsc.ca	37	chr6	97627382	97627382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgaatccatgatcttacgGttaaggcttgaaaagataca	8	7	1	3			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:97627382G>T	ENST00000275053.4	-	17	2703	c.2438C>A	c.(2437-2439)aCc>aAc	p.T813N	MMS22L_ENST00000369251.2_Missense_Mutation_p.T773N	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	813					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGATCTTACGGTTAAGGCTTG	0.348																																					p.T813N		.											.	MMS22L-92	0			c.C2438A						.						69	67	67					6																	97627382		2203	4300	6503	SO:0001583	missense	253714	exon17			CTTACGGTTAAGG		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2438C>A	6.37:g.97627382G>T	ENSP00000275053:p.Thr813Asn	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_198468	0	0	0	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702871	0.48307	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.31247	2.19;1.5	5.73	4.85	0.62838	.	0.135902	0.51477	D	0.000090	T	0.26738	0.0654	L	0.57536	1.79	0.28334	N	0.921636	D;D	0.59767	0.986;0.97	P;P	0.54759	0.76;0.716	T	0.07908	-1.0748	10	0.38643	T	0.18	.	11.0402	0.47827	0.0694:0.1306:0.8001:0.0	.	773;813	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	N	813;773	ENSP00000275053:T813N;ENSP00000358254:T773N	ENSP00000275053:T813N	T	-	2	0	MMS22L	97734103	0.997000	0.39634	0.733000	0.30861	0.532000	0.34746	2.981000	0.49329	1.411000	0.46957	0.644000	0.83932	ACC	.		0.348	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		T	97627382	G	T	97627382	3	4	29	1	0	0	0	0	1	0	0	0	2349	1261	44	3	1329	3	C6orf167	6	97627382	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	64218840	97627382	73487685	31	5204											
CDK19	23097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	110953362	110953362	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taatctggcaaaacccatgtCagctaaaaaaataaaataaa	4	7	2	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:110953362C>G	ENST00000368911.3	-	6	696	c.517G>C	c.(517-519)Gac>Cac	p.D173H	CDK19_ENST00000413605.2_Missense_Mutation_p.D49H|CDK19_ENST00000323817.3_Missense_Mutation_p.D113H	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						AAACCCATGTCAGCtaaaaaa	0.343																																					p.D173H		.											.	CDK19-548	0			c.G517C						.						42	42	42					6																	110953362		2203	4300	6503	SO:0001583	missense	23097	exon6			CCATGTCAGCTAA	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.517G>C	6.37:g.110953362C>G	ENSP00000357907:p.Asp173His	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_015076	0	0	0	0	0	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516479	0.85495	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.99368	1.0919	10	0.87932	D	0	-15.8739	18.944	0.92615	0.0:1.0:0.0:0.0	.	49;173	B4DUB1;Q9BWU1	.;CDK19_HUMAN	H	173;113;112;49;113	ENSP00000357907:D173H;ENSP00000317665:D113H;ENSP00000410604:D49H;ENSP00000415621:D113H	ENSP00000317665:D113H	D	-	1	0	CDK19	111060055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.474000	0.83562	0.650000	0.86243	GAC	.		0.343	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		G	110953362	C	G	110953362	3	3	29	1	0	0	0	0	1	0	0	0	3142	826	29	3	1023	3	CDK19	6	110953362	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	13325980	110953362	60161705	32	5205											
LAMA4	3910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	112455803	112455803	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttatcattgtggtaaatGattgagatctgggagagata	11	3	3	3			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:112455803G>T	ENST00000230538.7	-	26	3820	c.3423C>A	c.(3421-3423)atC>atA	p.I1141I	LAMA4_ENST00000424408.2_Silent_p.I1134I|LAMA4_ENST00000522006.1_Silent_p.I1134I|LAMA4_ENST00000389463.4_Silent_p.I1134I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1141	Laminin G-like 2. {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)		TGTGGTAAATGATTGAGATCT	0.294																																					p.I1141I		.											.	LAMA4-140	0			c.C3423A						.						88	93	91					6																	112455803		2203	4300	6503	SO:0001819	synonymous_variant	3910	exon26			GTAAATGATTGAG		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.3423C>A	6.37:g.112455803G>T		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	26	20	NM_001105206	0	0	0	0	0	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																			.		0.294	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112455803	G	T	112455803	2	4	29	1	0	0	0	0	0	0	0	1	8636	1280	45	3		3	LAMA4	6	112455803	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	1502441	112455803	58659264	33	5206											
UTRN	7402	hgsc.bcm.edu;ucsc.edu	37	chr6	145093104	145093104	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaactctttcaatcccttGgtaagtgttattaatagtaa	6	8	2	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:145093104G>T	ENST00000367545.3	+	58	8557	c.8557G>T	c.(8557-8559)Gct>Tct	p.A2853S	UTRN_ENST00000367526.4_Splice_Site_p.A408S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2853	Interaction with SYNM.				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)		TCAATCCCTTGGTAAGTGTTA	0.284																																					p.A2853S		.											.	UTRN-95	0			c.G8557T						.						64	69	67					6																	145093104		2203	4300	6503	SO:0001630	splice_region_variant	7402	exon58			TCCCTTGGTAAGT	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.8557+1G>T	6.37:g.145093104G>T		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_007124	0	0	0	0	0	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876839	0.72180	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.63417	-0.04;-0.04	5.78	5.78	0.91487	EF-hand domain, type 1 (1);	0.277859	0.25050	N	0.033530	T	0.47838	0.1467	L	0.43701	1.375	0.58432	D	0.999996	B	0.02656	0.0	B	0.20184	0.028	T	0.39078	-0.9631	10	0.45353	T	0.12	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	2853	P46939	UTRO_HUMAN	S	2853;408	ENSP00000356515:A2853S;ENSP00000356496:A408S	ENSP00000356496:A408S	A	+	1	0	UTRN	145134797	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.159000	0.94728	2.737000	0.93849	0.563000	0.77884	GCT	.		0.284	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Missense_Mutation	T	145093104	G	T	145093104	5	4	29	1	0	0	0	0	0	0	1	0	17152	1362	47	3	8787	3	UTRN	6	145093104	Splice_Site	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	32637301	145093104	26021963	34	5207											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	LRP11_ENST00000546019.1_Intron|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|RP11-244K5.8_ENST00000596229.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_032832	0	0	0	1	1	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	29	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	5091778	150184882	20930185	35	5208											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	8	NM_002047	0	0	0	2	2	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	29	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		30634661	128504002	36	5209											
GTF2I	2969	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	74119504	74119504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtatgtaggtggtcgtGtgatggtaacagatgctgac	14	4	0	3			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr7:74119504G>C	ENST00000324896.4	+	7	984	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.V199L|GTF2I_ENST00000416070.1_Missense_Mutation_p.V199L|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.V199L|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.V199L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	199					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)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTGGTCGTGTGATGGTAAC	0.333																																					p.V199L		.											.	GTF2I-90	0			c.G595C						.						103	91	95					7																	74119504		2203	4300	6503	SO:0001583	missense	2969	exon7			GGTCGTGTGATGG	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.595G>C	7.37:g.74119504G>C	ENSP00000322542:p.Val199Leu	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	30	6	NM_032999	0	0	0	0	0	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113059	0.37242	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.42513	1.55;1.55;1.55;1.56;0.97	5.11	5.11	0.69529	.	0.308515	0.27375	N	0.019641	T	0.35828	0.0945	L	0.46157	1.445	0.38138	D	0.938357	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.0;0.003;0.001;0.001;0.001;0.001	T	0.20940	-1.0260	10	0.11485	T	0.65	-3.7916	16.1158	0.81304	0.0:0.0:1.0:0.0	.	199;199;199;199;199;199	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	L	199;194;199;199;199;199	ENSP00000322542:V199L;ENSP00000322671:V199L;ENSP00000322599:V199L;ENSP00000387651:V199L;ENSP00000404240:V199L	ENSP00000322542:V199L	V	+	1	0	GTF2I	73757440	0.781000	0.28676	0.992000	0.48379	0.920000	0.55202	0.816000	0.27267	2.770000	0.95276	0.655000	0.94253	GTG	.		0.333	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		C	74119504	G	C	74119504	3	2	29	1	0	0	0	0	1	0	0	0	6894	1377	48	3	617	3	GTF2I	7	74119504	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	43484843	74119504	85019159	37	5210											
CUX1	1523	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	101821789	101821789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctccagcctagaagTtgagttggccgccaaggagc	13	13	0	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr7:101821789T>C	ENST00000292535.7	+	11	907	c.869T>C	c.(868-870)gTt>gCt	p.V290A	CUX1_ENST00000360264.3_Missense_Mutation_p.V301A|CUX1_ENST00000292538.4_Missense_Mutation_p.V301A|CUX1_ENST00000425244.2_Missense_Mutation_p.V255A|CUX1_ENST00000550008.2_Missense_Mutation_p.V290A|CUX1_ENST00000393824.3_Missense_Mutation_p.V262A|CUX1_ENST00000556210.1_Missense_Mutation_p.V290A|CUX1_ENST00000549414.2_Missense_Mutation_p.V290A|CUX1_ENST00000437600.4_Missense_Mutation_p.V299A|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.V285A|CUX1_ENST00000546411.2_Missense_Mutation_p.V290A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	290					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						AGCCTAGAAGTTGAGTTGGCC	0.622																																					p.V301A		.											.	CUX1-160	0			c.T902C						.						38	37	37					7																	101821789		2203	4300	6503	SO:0001583	missense	1523	exon11			TAGAAGTTGAGTT	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.869T>C	7.37:g.101821789T>C	ENSP00000292535:p.Val290Ala	Somatic	238	1		WXS	Illumina GAIIx	Phase_I	297	42	NM_001202543	0	0	5	5	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	T	8.010	0.757339	0.15846	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;2.71;1.02;1.02;1.02;1.02;1.02;1.02	5.29	4.14	0.48551	.	0.197908	0.43110	N	0.000603	T	0.14787	0.0357	N	0.02539	-0.55	0.45502	D	0.998466	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.001;0.001;0.002;0.0;0.002	T	0.16188	-1.0411	10	0.02654	T	1	-10.8337	9.1532	0.36976	0.0:0.1467:0.0:0.8533	.	262;290;255;285;299;301;301	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	A	301;285;301;255;299;290;290;290;290;290	ENSP00000292538:V301A;ENSP00000449371:V285A;ENSP00000353401:V301A;ENSP00000409745:V255A;ENSP00000414091:V299A;ENSP00000292535:V290A;ENSP00000446630:V290A;ENSP00000447373:V290A;ENSP00000450125:V290A;ENSP00000451558:V290A	ENSP00000292535:V290A	V	+	2	0	CUX1	101608509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.844000	0.48246	1.024000	0.39682	0.459000	0.35465	GTT	T|1.000;C|0.000		0.622	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101821789	T	C	101821789	3	2	29	1	0	0	0	0	1	0	0	0	4073	1725	60	4	978	4	CUX1	7	101821789	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	27702285	101821789	57316874	38	5211											
TMEM168	64418	broad.mit.edu	37	chr7	112424402	112424402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaatccaacaagctccAgaaattcaactgtggttagt	8	9	1	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr7:112424402A>G	ENST00000312814.6	-	2	1039	c.479T>C	c.(478-480)cTg>cCg	p.L160P	TMEM168_ENST00000454074.1_Missense_Mutation_p.L160P	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	160						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AACAAGCTCCAGAAATTCAAC	0.428																																					p.L160P		.											.	TMEM168-91	0			c.T479C						.						68	68	68					7																	112424402		2203	4300	6503	SO:0001583	missense	64418	exon2			AGCTCCAGAAATT		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.479T>C	7.37:g.112424402A>G	ENSP00000323068:p.Leu160Pro	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	162	6	NM_022484	0	0	0	0	0	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751668	0.69533	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.063428	0.64402	D	0.000005	T	0.76307	0.3969	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.77827	-0.2443	9	0.66056	D	0.02	-30.0602	16.6245	0.84952	1.0:0.0:0.0:0.0	.	160	Q9H0V1	TM168_HUMAN	P	160	.	ENSP00000323068:L160P	L	-	2	0	TMEM168	112211638	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.339000	0.96797	2.323000	0.78572	0.528000	0.53228	CTG	.		0.428	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		G	112424402	A	G	112424402	3	3	29	1	0	0	0	0	1	0	0	0	16130	188	7	4	1630	4	TMEM168	7	112424402	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	10602613	112424402	46714261	39	5212											
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	55540356	55540356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaggagaggtctgttcacTtactgatactgtgttttctg	10	8	3	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:55540356T>C	ENST00000220676.1	+	4	4062	c.3914T>C	c.(3913-3915)cTt>cCt	p.L1305P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1305					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)			GTCTGTTCACTTACTGATACT	0.433																																					p.L1305P	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.T3914C						.						154	151	152					8																	55540356		2203	4300	6503	SO:0001583	missense	6101	exon4			GTTCACTTACTGA	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.3914T>C	8.37:g.55540356T>C	ENSP00000220676:p.Leu1305Pro	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	116	17	NM_006269	0	0	0	0	0		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655493	0.29425	.	.	ENSG00000104237	ENST00000220676	T	0.35421	1.31	5.79	0.203	0.15195	.	0.414645	0.20639	N	0.088425	T	0.21590	0.0520	L	0.32530	0.975	0.19945	N	0.999947	B	0.21905	0.062	B	0.20184	0.028	T	0.16958	-1.0385	10	0.87932	D	0	.	2.9897	0.05979	0.3319:0.1779:0.0:0.4902	.	1305	P56715	RP1_HUMAN	P	1305	ENSP00000220676:L1305P	ENSP00000220676:L1305P	L	+	2	0	RP1	55702909	0.002000	0.14202	0.045000	0.18777	0.424000	0.31475	0.460000	0.21924	0.417000	0.25871	-0.333000	0.08304	CTT	.		0.433	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		C	55540356	T	C	55540356	3	2	29	1	0	0	0	0	1	0	0	0	13577	1609	56	4	3924	4	RP1	8	55540356	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10		55540356	90823666	40	5213											
CYP11B2	1585	broad.mit.edu	37	chr8	143996654	143996654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggttgaagcgccattcagGcccattcctacagaggccag	11	13	1	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:143996654G>T	ENST00000323110.2	-	3	405	c.403C>A	c.(403-405)Cct>Act	p.P135T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	135					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CGCCATTCAGGCCCATTCCTA	0.627									Familial Hyperaldosteronism type I																												p.P135T		.											.	CYP11B2-90	0			c.C403A						.						33	26	28					8																	143996654		2203	4300	6503	SO:0001583	missense	1585	exon3	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	ATTCAGGCCCATT	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.403C>A	8.37:g.143996654G>T	ENSP00000325822:p.Pro135Thr	Somatic	113	1		WXS	Illumina GAIIx	Phase_I	78	7	NM_000498	0	0	0	0	0	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640405	0.47153	.	.	ENSG00000179142	ENST00000323110	T	0.71103	-0.54	3.44	0.116	0.14647	.	0.696286	0.12629	N	0.452329	T	0.66086	0.2754	M	0.67953	2.075	0.09310	N	0.999999	B	0.28258	0.205	B	0.32022	0.139	T	0.59484	-0.7446	10	0.51188	T	0.08	.	7.7411	0.28841	0.0:0.5027:0.3265:0.1709	.	135	P19099	C11B2_HUMAN	T	135	ENSP00000325822:P135T	ENSP00000325822:P135T	P	-	1	0	CYP11B2	143993656	0.019000	0.18553	0.108000	0.21378	0.782000	0.44232	0.735000	0.26115	0.225000	0.20959	0.561000	0.74099	CCT	.		0.627	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			T	143996654	G	T	143996654	3	4	29	1	0	0	0	0	1	0	0	0	4155	1203	42	3	1136	3	CYP11B2	8	143996654	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	88456298	143996654	2367368	41	5214											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000356346.3_Silent_p.A1962A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	29	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	1001515	144998169	1365853	42	5215			2	26		4	4	3420	N	C_A	2.224869e-07
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000356346.3_Silent_p.A1955A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	21	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	29	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	21	144998190	1365832	43	5216			2	26		4	4	3420	N	C_A	2.224869e-07
PLEC	5339	hgsc.bcm.edu	37	chr8	144998868	144998868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttctgcgtggctgcagcCgcctcacgctgcagccgggc	14	16	2	0	rs140406501	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:144998868C>T	ENST00000322810.4	-	31	5809	c.5640G>A	c.(5638-5640)gcG>gcA	p.A1880A	PLEC_ENST00000357649.2_Silent_p.A1747A|PLEC_ENST00000345136.3_Silent_p.A1743A|PLEC_ENST00000354589.3_Silent_p.A1743A|PLEC_ENST00000354958.2_Silent_p.A1721A|PLEC_ENST00000398774.2_Silent_p.A1711A|PLEC_ENST00000436759.2_Silent_p.A1770A|PLEC_ENST00000527096.1_Silent_p.A1766A|PLEC_ENST00000356346.3_Silent_p.A1729A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1880	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCTGCAGCCGCCTCACGCT	0.716													C|||	120	0.0239617	0	0.1081	5008	,	,		8312	0.003		0.0199	False		,,,				2504	0.0225				p.A1880A		.											.	PLEC-141	0			c.G5640A						.						1	2	2					8																	144998868		1178	2761	3939	SO:0001819	synonymous_variant	5339	exon31			TGCAGCCGCCTCA	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.5640G>A	8.37:g.144998868C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.978;T|0.022		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998868	C	T	144998868	2	4	29	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998868	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	678	144998868	1365154	44	5217			2	26		4	4	3420	N	C_A	2.224869e-07
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	29	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	2720	145001588	1362434	45	5218			2	26		4	4	3420	N	C_A	2.224869e-07
SMARCA2	6595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	2077741	2077741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggtggagaaacagtctGccctcctaattaatgggacc	12	9	1	2	rs373755812		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:2077741G>T	ENST00000382203.1	+	14	2358	c.2149G>T	c.(2149-2151)Gcc>Tcc	p.A717S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.A717S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A717S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A717S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	717					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAACAGTCTGCCCTCCTAAT	0.468																																					p.A717S		.											.	SMARCA2-653	0			c.G2149T						.						109	84	93					9																	2077741		2203	4300	6503	SO:0001583	missense	6595	exon14			CAGTCTGCCCTCC	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.2149G>T	9.37:g.2077741G>T	ENSP00000371638:p.Ala717Ser	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	246	100	NM_139045	0	0	0	0	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	g	5.267	0.234628	0.09969	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.56	5.56	0.83823	.	0.235104	0.37219	N	0.002196	T	0.76877	0.4049	N	0.00869	-1.13	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.75608	-0.3259	10	0.02654	T	1	-19.4585	12.619	0.56594	0.0:0.0:0.7226:0.2774	.	318;717;717	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	717	ENSP00000265773:A717S;ENSP00000349788:A717S;ENSP00000371638:A717S;ENSP00000371629:A717S	ENSP00000265773:A717S	A	+	1	0	SMARCA2	2067741	0.861000	0.29849	0.957000	0.39632	0.376000	0.30014	1.345000	0.33953	2.614000	0.88457	0.586000	0.80456	GCC	.		0.468	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2077741	G	T	2077741	3	4	29	1	0	0	0	0	1	0	0	0	14814	1319	46	3	2199	3	SMARCA2	9	2077741	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		2077741	139135690	46	5219											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	22	11	NM_024896	0	0	1	1	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	29	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	3754987	5832728	135380703	47	5220											
MLLT3	4300	hgsc.bcm.edu	37	chr9	20414349	20414349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactgctGctgctgctgctgctgctgct	12	14	0	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000429426.2_Silent_p.S162S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	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)		tgctactgctgctgctgctgc	0.532			T	MLL	ALL																																p.S165S		.		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	MLLT3-660	0			c.C495T						.						8	15	13					9																	20414349		1360	3003	4363	SO:0001819	synonymous_variant	4300	exon5			ACTGCTGCTGCTG	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.495C>T	9.37:g.20414349G>A		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	42	9	NM_004529	0	0	2	2	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																			.		0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		A	20414349	G	A	20414349	2	1	29	1	0	0	0	0	0	0	0	1	9666	1310	46	3		3	MLLT3	9	20414349	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	14581621	20414349	120799082	48	5221											
BAG1	51510	hgsc.bcm.edu	37	chr9	33264540	33264540	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actccgggcaggtggacgccCagagggaggcggaccacgct	17	13	0	1	rs1071545	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:33264540C>G	ENST00000223500.8	+	0	0				BAG1_ENST00000379704.2_5'UTR|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000472232.3_Missense_Mutation_p.G45R	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGTGGACGCCCAGAGGGAGGC	0.771													G|||	4905	0.979433	0.9251	0.9942	5008	,	,		8749	1		1	False		,,,				2504	1				p.G45R		.											.	BAG1-228	0			c.G133C						.		,ARG/GLY	3714,198		1759,196,1	4	5	4		,133	3.6	0	9	dbSNP_86	4	7514,4		3755,4,0	no	utr-5,missense	BAG1	NM_001172415.1,NM_004323.5	,125	5514,200,1	GG,GC,CC		0.0532,5.0613,1.7673	,benign	,45/346	33264540	11228,202	1956	3759	5715	SO:0001631	upstream_gene_variant	573	exon1			GACGCCCAGAGGG	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264540C>G	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_004323	0	0	0	3	3	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	CCDS6537.1	2143	0.9812271062271062	452	0.9186991869918699	361	0.9972375690607734	572	1.0	758	1.0	G	5.424	0.263435	0.10294	0.949387	0.999468	ENSG00000107262	ENST00000472232	.	.	.	3.62	3.62	0.41486	.	0.965269	0.08484	N	0.939035	T	0.00012	0.0000	N	0.08118	0	0.47407	P	5.870000000000042E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	8	0.06236	T	0.91	-3.4106	9.2895	0.37778	0.0:0.2201:0.7798:0.0	rs1071545;rs1702659;rs59772010	45	Q99933	BAG1_HUMAN	R	45	.	ENSP00000420514:G45R	G	-	1	0	BAG1	33254540	0.798000	0.28890	0.040000	0.18447	0.006000	0.05464	0.985000	0.29578	1.113000	0.41760	-0.674000	0.03794	GGG	C|0.976;G|0.024		0.771	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		G	33264540	C	G	33264540	1	3	29	0	1	0	0	0	0	0	0	0	1287	594	21	3		3	BAG1	9	33264540	5'Flank	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	12850191	33264540	107948891	49	5222											
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA													catcttgtctcccagcgtcaINStcttgtctcccagtgtccaa					rs567658963|rs536300617	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		Somatic	292	0		WXS	Illumina GAIIx	Phase_I	434	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		TCTTGTCTCCCAGCGTCA	90534193	-	TCTTGTCTCCCAGCGTCA	90534192	6	5	29	0	1	1	1	0	0	0	0	0	5645	217	8	0		0	FAM75C1	9	90534192	RNA	INS	-	TCGA-OR-A5K8-01A-11D-A29I-10	57269652	90534192	50679239	50	5223											
NCBP1	4686	hgsc.bcm.edu	37	chr9	100396172	100396172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagggcagcatgtcgcgGcggcggcacagcgacgagaa	18	12	0	1	rs11554641	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:100396172G>A	ENST00000375147.3	+	1	265	c.9G>A	c.(7-9)cgG>cgA	p.R3R	TSTD2_ENST00000354801.2_5'Flank|RP11-244N9.4_ENST00000437864.1_RNA|TSTD2_ENST00000341170.4_5'Flank	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	3					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GCATGTCGCGGCGGCGGCACA	0.721													G|||	23	0.00459265	8e-04	0.0043	5008	,	,		12921	0		0.0189	False		,,,				2504	0				p.R3R	Ovarian(36;879 898 2893 44212 50307)	.											.	NCBP1-90	0			c.G9A						.	G		4,3998		0,4,1997	6	9	8		9	4.5	1	9	dbSNP_132	8	87,7863		1,85,3889	no	coding-synonymous	NCBP1	NM_002486.4		1,89,5886	AA,AG,GG		1.0943,0.1,0.7614		3/791	100396172	91,11861	2001	3975	5976	SO:0001819	synonymous_variant	4686	exon1			GTCGCGGCGGCGG	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.9G>A	9.37:g.100396172G>A		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	116	66	NM_002486	0	0	0	0	0	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	CCDS6728.1																																																																																			G|0.991;A|0.009		0.721	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		A	100396172	G	A	100396172	2	1	29	1	0	0	0	0	0	0	0	1	10250	1190	42	3		3	NCBP1	9	100396172	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	9861980	100396172	40817259	51	5224											
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694613	139694613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggaggagctgcggCtgctgcaggtggagaggcgg	20	9	0	1	rs35342663	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr9:139694613C>A	ENST00000338005.6	+	4	465	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.L174M	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		144										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGAGCTGCGGCTGCTGCAGGT	0.741													C|||	462	0.0922524	0.152	0.0144	5008	,	,		7965	0.1389		0.0219	False		,,,				2504	0.091				p.L144M		.											.	KIAA1984-91	0			c.C430A						.	C	MET/LEU	345,2927		9,327,1300	4	4	4		430	-3.5	0	9	dbSNP_126	4	162,7194		2,158,3518	no	missense	KIAA1984	NM_001039374.4	15	11,485,4818	AA,AC,CC		2.2023,10.544,4.7704	benign	144/535	139694613	507,10121	1636	3678	5314	SO:0001583	missense	84960	exon4			CTGCGGCTGCTGC																												ENST00000338005.6:c.430C>A	9.37:g.139694613C>A	ENSP00000338013:p.Leu144Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	25	9	NM_001039374	0	0	0	0	0	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	155	0.07097069597069597	63	0.12804878048780488	6	0.016574585635359115	71	0.12412587412587413	15	0.01978891820580475	C	8.887	0.953003	0.18431	0.10544	0.022023	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.69	-3.55	0.04639	.	1.415250	0.05927	U	0.634446	T	0.00073	0.0002	N	0.21448	0.665	0.80722	P	0.0	B	0.24368	0.102	B	0.23852	0.049	T	0.40098	-0.9581	9	0.45353	T	0.12	-2.6838	3.6184	0.08086	0.384:0.3008:0.0:0.3152	rs35342663;rs59016673;rs62581420	144	Q5T5S1	K1984_HUMAN	M	144	ENSP00000338013:L144M	ENSP00000338013:L144M	L	+	1	2	KIAA1984	138814434	0.000000	0.05858	0.004000	0.12327	0.449000	0.32228	-3.365000	0.00496	-1.346000	0.02211	-0.384000	0.06662	CTG	C|0.928;A|0.072		0.741	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139694613	C	A	139694613	3	1	29	1	0	0	0	0	1	0	0	0	8293	796	28	3	444	3	KIAA1984	9	139694613	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	39298441	139694613	1518818	52	5225											
ADARB2	105	hgsc.bcm.edu	37	chr10	1405402	1405402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagctccgcgcgcgccgctCggccggttctgccagacaca	13	17	1	1	rs191180422	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr10:1405402C>T	ENST00000381312.1	-	3	1223	c.898G>A	c.(898-900)Gag>Aag	p.E300K	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	300	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGCGCCGCTCGGCCGGTTCT	0.761													C|||	8	0.00159744	0	0.0043	5008	,	,		6987	0		0.001	False		,,,				2504	0.0041				p.E300K		.											.	ADARB2-153	0			c.G898A						.	C	LYS/GLU	2,3830		0,2,1914	4	4	4		898	3.3	0	10		4	29,7701		0,29,3836	no	missense	ADARB2	NM_018702.3	56	0,31,5750	TT,TC,CC		0.3752,0.0522,0.2681	benign	300/740	1405402	31,11531	1916	3865	5781	SO:0001583	missense	105	exon3			GCCGCTCGGCCGG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.898G>A	10.37:g.1405402C>T	ENSP00000370713:p.Glu300Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_018702	0	0	0	0	0	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990794	0.35131	5.22E-4	0.003752	ENSG00000185736	ENST00000381312	T	0.75821	-0.97	5.24	3.34	0.38264	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.204711	0.50627	N	0.000111	T	0.72700	0.3493	L	0.43646	1.37	0.80722	D	1	P	0.38711	0.643	P	0.45119	0.47	T	0.69450	-0.5142	10	0.36615	T	0.2	-25.1429	15.4893	0.75593	0.0:0.7376:0.2624:0.0	.	300	Q9NS39	RED2_HUMAN	K	300	ENSP00000370713:E300K	ENSP00000370713:E300K	E	-	1	0	ADARB2	1395402	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	2.572000	0.45999	0.561000	0.29186	-0.304000	0.09214	GAG	.		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1405402	C	T	1405402	3	4	29	1	0	0	0	0	1	0	0	0	283	893	31	1	1353	1	ADARB2	10	1405402	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		1405402	134129345	53	5226											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	7	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	29	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	45594815	47000217	88534530	54	5227											
TAF5	6877	hgsc.bcm.edu	37	chr10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggcagtggcgggcTccggagccccgggagaggtg	22	9	0	1	rs10883859	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3	5	4		388	1.9	1	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	8	NM_006951	0	0	0	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105128134	T	G	105128134	3	3	29	1	0	0	0	0	1	0	0	0	15575	1551	54	5	390	5	TAF5	10	105128134	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	58127917	105128134	30406613	55	5228											
CDHR5	53841	broad.mit.edu	37	chr11	617527	617527	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaccagacagccttgtAcccgccctccggccgccgct	9	20	0	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr11:617527A>C	ENST00000358353.3	-	16	2684	c.2362T>G	c.(2362-2364)Tac>Gac	p.Y788D	IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.Y788D|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.Y594D|IRF7_ENST00000397570.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	788					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACAGCCTTGTACCCGCCCTCC	0.716																																					p.Y788D		.											.	CDHR5-90	0			c.T2362G						.						34	33	33					11																	617527		2202	4297	6499	SO:0001583	missense	53841	exon15			CCTTGTACCCGCC	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2362T>G	11.37:g.617527A>C	ENSP00000351118:p.Tyr788Asp	Somatic	35	4		WXS	Illumina GAIIx	Phase_I	128	29	NM_021924	0	0	0	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782955	0.31502	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.80653	-1.32;-1.32;-1.4	3.95	3.95	0.45737	.	.	.	.	.	D	0.85691	0.5755	L	0.53249	1.67	0.32994	D	0.52529	D;P;P	0.89917	1.0;0.573;0.573	D;B;B	0.87578	0.998;0.258;0.258	D	0.87789	0.2617	9	0.87932	D	0	-25.1372	9.4901	0.38953	1.0:0.0:0.0:0.0	.	782;594;788	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	D	788;788;594	ENSP00000380676:Y788D;ENSP00000351118:Y788D;ENSP00000345726:Y594D	ENSP00000345726:Y594D	Y	-	1	0	CDHR5	607527	1.000000	0.71417	0.987000	0.45799	0.174000	0.22865	2.384000	0.44362	1.568000	0.49683	0.418000	0.28097	TAC	.		0.716	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	617527	A	C	617527	3	2	29	1	0	0	0	0	1	0	0	0	3129	391	14	5	179	5	CDHR5	11	617527	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10		617527	134388989	56	5229											
MUC2	4583	broad.mit.edu	37	chr11	1092947	1092947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1	rs111219026		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr11:1092947C>T	ENST00000441003.2	+	30	4793	c.4766C>T	c.(4765-4767)aCc>aTc	p.T1589I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1590I|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1589N(2)|p.T1590N(2)|p.T1590I(2)|p.T1589I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.627																																					p.T1589I		.											.	MUC2-90	8	Substitution - Missense(8)	endometrium(8)	c.C4766T						.						58	93	81					11																	1092947		1850	3386	5236	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.4766C>T	11.37:g.1092947C>T	ENSP00000415183:p.Thr1589Ile	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	100	4	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.954	0.360009	0.11296	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14266	2.52;2.82	1.75	1.75	0.24633	.	1.843980	0.03632	U	0.238018	T	0.09024	0.0223	.	.	.	0.09310	N	1	P	0.41978	0.767	B	0.31101	0.124	T	0.33085	-0.9882	9	0.39692	T	0.17	.	8.7142	0.34401	0.0:1.0:0.0:0.0	.	1589	E7EUV1	.	I	1589;1590	ENSP00000415183:T1589I;ENSP00000351956:T1590I	ENSP00000351956:T1590I	T	+	2	0	MUC2	1082947	0.034000	0.19679	0.006000	0.13384	0.170000	0.22686	1.835000	0.39181	1.016000	0.39470	0.121000	0.15741	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092947	C	T	1092947	3	4	29	1	0	0	0	0	1	0	0	0	10013	507	18	3	4884	3	MUC2	11	1092947	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	475420	1092947	133913569	57	5230											
TPCN2	219931	bcgsc.ca	37	chr11	68851466	68851466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcagaacatgcgtgcGtttggcgggatcctggtggt	17	8	0	1	rs896973	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr11:68851466G>T	ENST00000294309.3	+	19	1844	c.1743G>T	c.(1741-1743)gcG>gcT	p.A581A	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_3'UTR|MIR3164_ENST00000581178.1_RNA	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	581					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|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)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACATGCGTGCGTTTGGCGGGA	0.667													G|||	1670	0.333466	0.357	0.3285	5008	,	,		17038	0.2867		0.4831	False		,,,				2504	0.1994				p.A581A		.											.	TPCN2-90	0			c.G1743T						.	G		1688,2712	510.6+/-367.6	325,1038,837	194	146	162		1743	-7.5	0.2	11	dbSNP_86	162	4281,4307	574.0+/-390.0	1034,2213,1047	no	coding-synonymous	TPCN2	NM_139075.3		1359,3251,1884	TT,TG,GG		49.8486,38.3636,45.9578		581/753	68851466	5969,7019	2200	4294	6494	SO:0001819	synonymous_variant	219931	exon19			GCGTGCGTTTGGC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1743G>T	11.37:g.68851466G>T		Somatic	239	1		WXS	Illumina GAIIx	Phase_I	178	8	NM_139075	0	0	1	1	0	Q9NT82	Silent	SNP	ENST00000294309.3	37	CCDS8189.1																																																																																			G|0.583;T|0.417		0.667	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		T	68851466	G	T	68851466	2	4	29	1	0	0	0	0	0	0	0	1	16444	1132	40	2		2	TPCN2	11	68851466	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	67758519	68851466	66155050	58	5231											
ATF7IP	55729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	14610191	14610191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaaagaaatgtaagcgAgagtgcaccaccatcctttc	8	11	0	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr12:14610191A>C	ENST00000540793.1	+	7	2275	c.2120A>C	c.(2119-2121)gAg>gCg	p.E707A	ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E706A|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E706A|ATF7IP_ENST00000544627.1_Missense_Mutation_p.E715A|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E707A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	707	Interaction with SETDB1.				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						AATGTAAGCGAGAGTGCACCA	0.368																																					p.E707A		.											.	ATF7IP-252	0			c.A2120C						.						123	119	121					12																	14610191		2203	4300	6503	SO:0001583	missense	55729	exon8			TAAGCGAGAGTGC	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.2120A>C	12.37:g.14610191A>C	ENSP00000444589:p.Glu707Ala	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	115	62	NM_018179	0	0	1	1	0	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547513	0.86022	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.20598	2.06;2.08;2.06;2.06;2.06	5.75	5.75	0.90469	.	0.074605	0.56097	D	0.000023	T	0.40423	0.1116	L	0.59436	1.845	0.48632	D	0.999682	D;D;D;D	0.63046	0.971;0.971;0.992;0.992	P;P;P;P	0.61592	0.783;0.783;0.802;0.891	T	0.06661	-1.0814	10	0.40728	T	0.16	-11.843	16.3534	0.83225	1.0:0.0:0.0:0.0	.	706;707;706;318	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	A	707;706;706;715;707	ENSP00000261168:E707A;ENSP00000443179:E706A;ENSP00000445955:E706A;ENSP00000440440:E715A;ENSP00000444589:E707A	ENSP00000261168:E707A	E	+	2	0	ATF7IP	14501458	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.413000	0.59795	2.311000	0.77944	0.528000	0.53228	GAG	.		0.368	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		C	14610191	A	C	14610191	3	2	29	1	0	0	0	0	1	0	0	0	1088	304	11	5	2146	5	ATF7IP	12	14610191	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10		14610191	119241704	59	5232											
ALDH1L2	160428	hgsc.bcm.edu	37	chr12	105478202	105478202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccggagcgcctggctgcCccgccgcagcatgctggaga	16	16	0	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr12:105478202C>T	ENST00000258494.9	-	1	153	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.G5S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	5					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTGGCTGCCCCGCCGCAGC	0.776																																					p.G5S		.											.	ALDH1L2-91	0			c.G13A						.						1	1	1					12																	105478202		791	1829	2620	SO:0001583	missense	160428	exon1			GGCTGCCCCGCCG	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.13G>A	12.37:g.105478202C>T	ENSP00000258494:p.Gly5Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	9	NM_001034173	0	0	0	0	0	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172809	0.21704	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.73681	-0.77;3.36	4.54	1.67	0.24075	.	0.337688	0.27052	N	0.021162	T	0.41811	0.1175	N	0.02011	-0.69	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.30707	-0.9969	10	0.46703	T	0.11	.	3.4786	0.07594	0.2018:0.5882:0.0:0.21	.	5	Q3SY69	AL1L2_HUMAN	S	5	ENSP00000258494:G5S;ENSP00000389608:G5S	ENSP00000258494:G5S	G	-	1	0	ALDH1L2	104002332	0.015000	0.18098	0.045000	0.18777	0.011000	0.07611	0.651000	0.24873	0.626000	0.30322	-0.516000	0.04426	GGC	.		0.776	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		T	105478202	C	T	105478202	3	4	29	1	0	0	0	0	1	0	0	0	495	623	22	3	2850	3	ALDH1L2	12	105478202	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	90868011	105478202	28373693	60	5233											
EFHA1	221154	hgsc.bcm.edu	37	chr13	22178258	22178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgccccaggccgccacCcgcgcgcagctacccgcagc	10	22	0	0	rs9509812	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3	3	3		30	-1.6	0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	27	NM_152726	0	0	0	2	2	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		T	22178258	C	T	22178258	2	4	29	1	0	0	0	0	0	0	0	1	4957	610	22	3		3	EFHA1	13	22178258	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		22178258	92991620	61	5234											
C13orf33	84935	hgsc.bcm.edu	37	chr13	31480827	31480827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccagctcgtggtggccAggcccggggagccggcggcg	20	14	0	0	rs9531945	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr13:31480827A>G	ENST00000380482.4	+	1	500	c.175A>G	c.(175-177)Agg>Ggg	p.R59G	TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	59			R -> G (in dbSNP:rs9531945). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											CGTGGTGGCCAggcccgggga	0.726													G|||	4890	0.976438	0.913	0.9957	5008	,	,		11722	1		1	False		,,,				2504	1				p.R59G		.											.	.	0			c.A175G						.	G	GLY/ARG	2883,187		1349,185,1	3	4	4		175	3.2	0	13	dbSNP_119	4	6648,4		3322,4,0	no	missense	C13orf33	NM_032849.3	125	4671,189,1	GG,GA,AA		0.0601,6.0912,1.9646	benign	59/304	31480827	9531,191	1535	3326	4861	SO:0001583	missense	84935	exon1			GTGGCCAGGCCCG	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.175A>G	13.37:g.31480827A>G	ENSP00000369849:p.Arg59Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_032849	0	0	0	0	0	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	CCDS9338.1	2123	0.9720695970695971	437	0.8882113821138211	361	0.9972375690607734	567	0.9912587412587412	758	1.0	G	0.006	-2.044123	0.00398	0.939088	0.999399	ENSG00000102802	ENST00000380482	T	0.40225	1.04	4.92	3.15	0.36227	.	0.260438	0.31495	N	0.007559	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	9	0.02654	T	1	-3.5214	6.5331	0.22338	0.1691:0.1474:0.6836:0.0	rs9531945;rs17857210;rs57016010;rs9531945	59	Q5VYS4	CM033_HUMAN	G	59	ENSP00000369849:R59G	ENSP00000369849:R59G	R	+	1	2	C13orf33	30378827	0.386000	0.25180	0.001000	0.08648	0.005000	0.04900	2.086000	0.41643	0.132000	0.18615	-1.032000	0.02404	AGG	A|0.219;G|0.781		0.726	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		G	31480827	A	G	31480827	3	3	29	1	0	0	0	0	1	0	0	0	1732	179	7	4	177	4	C13orf33	13	31480827	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	9302569	31480827	83689051	62	5235											
DLEU7	220107	hgsc.bcm.edu	37	chr13	51417535	51417535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctctggggagttcGcccgcgccgcggtccgccga	13	19	1	0	rs898861	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr13:51417535G>A	ENST00000504404.1	-	1	297	c.248C>T	c.(247-249)gCg>gTg	p.A83V	DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000400393.3_Missense_Mutation_p.A83V			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	83			A -> V (in dbSNP:rs898861). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.										Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGGGGAGTTCGCCCGCGCCGC	0.811													G|||	885	0.176717	0.0968	0.1888	5008	,	,		8444	0.2917		0.1988	False		,,,				2504	0.135				p.A83V		.											.	.	0			c.C248T						.	G	VAL/ALA	212,2568		7,198,1185	2	3	3		248	1.8	0	13	dbSNP_86	3	970,5336		43,884,2226	yes	missense	DLEU7	NM_198989.2	64	50,1082,3411	AA,AG,GG		15.3822,7.6259,13.009	possibly-damaging	83/161	51417535	1182,7904	1390	3153	4543	SO:0001583	missense	220107	exon1			GAGTTCGCCCGCG	AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000504404.1:c.248C>T	13.37:g.51417535G>A	ENSP00000427177:p.Ala83Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		458	0.2097069597069597	57	0.11585365853658537	67	0.1850828729281768	188	0.32867132867132864	146	0.19261213720316622	G	11.22	1.574237	0.28092	0.076259	0.153822	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.49139	0.79;0.82	2.72	1.81	0.25067	.	0.342483	0.19746	U	0.107012	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.28026	0.198;0.198	B;B	0.25506	0.061;0.061	T	0.32587	-0.9901	9	0.07175	T	0.84	.	5.0335	0.14423	0.0:0.2383:0.5179:0.2437	rs898861;rs12869977	83;83	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	V	83;83;36	ENSP00000420976:A83V;ENSP00000427177:A83V	ENSP00000439677:A36V	A	-	2	0	DLEU7	50315536	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.065000	0.14466	0.650000	0.30769	0.491000	0.48974	GCG	G|0.789;A|0.211		0.811	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989		A	51417535	G	A	51417535	3	1	29	1	0	0	0	0	1	0	0	0	4567	1087	38	1	242	1	DLEU7	13	51417535	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	19936708	51417535	63752343	63	5236											
GALC	2581	bcgsc.ca	37	chr14	88450770	88450770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtccaaatcatggtaacGcttggcgcccacaatccagg	9	12	1	0	rs1805078	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr14:88450770G>A	ENST00000261304.2	-	5	656	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	GALC_ENST00000393569.2_Missense_Mutation_p.R158C|GALC_ENST00000393568.4_Missense_Mutation_p.R161C|GALC_ENST00000544807.2_Missense_Mutation_p.R128C|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	184			R -> C (in dbSNP:rs1805078). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:20886637, ECO:0000269|PubMed:7581365}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGGTAACGCTTGGCGCCC	0.368													G|||	136	0.0271565	0.0015	0.0346	5008	,	,		16908	0.004		0.0616	False		,,,				2504	0.045				p.R184C		.											.	GALC-90	0			c.C550T	GRCh37	CM950518	GALC	M	rs1805078	.	G	CYS/ARG,CYS/ARG,CYS/ARG	44,3824		1,42,1891	73	70	71		550,481,472	1.9	1	14	dbSNP_89	71	463,7797		10,443,3677	yes	missense,missense,missense	GALC	NM_000153.3,NM_001201401.1,NM_001201402.1	180,180,180	11,485,5568	AA,AG,GG		5.6053,1.1375,4.1804	benign,benign,benign	184/686,161/663,158/660	88450770	507,11621	1934	4130	6064	SO:0001583	missense	2581	exon5			GGTAACGCTTGGC	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.550C>T	14.37:g.88450770G>A	ENSP00000261304:p.Arg184Cys	Somatic	205	2		WXS	Illumina GAIIx	Phase_I	183	10	NM_000153	0	0	0	0	0	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	CCDS9878.2	59	0.027014652014652016	2	0.0040650406504065045	10	0.027624309392265192	3	0.005244755244755245	44	0.05804749340369393	G	16.59	3.164428	0.57476	0.011375	0.056053	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000393568;ENST00000445021	D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56	4.85	1.9	0.25705	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.461649	0.24722	N	0.036130	D	0.88518	0.6458	L	0.42245	1.32	0.35315	D	0.784242	P;D;D;D;D	0.61080	0.94;0.966;0.958;0.98;0.989	P;P;P;P;P	0.53185	0.526;0.657;0.646;0.599;0.72	D	0.87372	0.2351	10	0.62326	D	0.03	-1.7267	5.6673	0.17702	0.1486:0.0:0.5922:0.2593	rs1805078;rs52831396;rs1805078	128;161;158;184;184	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	C	184;128;158;161;184	ENSP00000261304:R184C;ENSP00000437513:R128C;ENSP00000377199:R158C;ENSP00000377198:R161C	ENSP00000261304:R184C	R	-	1	0	GALC	87520523	1.000000	0.71417	0.993000	0.49108	0.732000	0.41865	2.224000	0.42945	0.467000	0.27218	0.313000	0.20887	CGT	G|0.966;A|0.034		0.368	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			A	88450770	G	A	88450770	3	1	29	1	0	0	0	0	1	0	0	0	6226	1087	38	1	1622	1	GALC	14	88450770	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		88450770	18898770	64	5237											
ITPK1	3705	hgsc.bcm.edu	37	chr14	93408017	93408017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcttggcggtgccgccCgcgtcggcctcagccttcca	14	17	1	0	rs563090061	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr14:93408017C>T	ENST00000267615.6	-	11	1307	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	ITPK1_ENST00000555495.1_Silent_p.A259A|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Silent_p.A378A			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	378					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGTGCCGCCCGCGTCGGCCT	0.736													C|||	4	0.000798722	8e-04	0.0014	5008	,	,		13386	0.001		0	False		,,,				2504	0.001				p.A378A		.											.	ITPK1-115	0			c.G1134A						.						3	3	3					14																	93408017		1665	3314	4979	SO:0001819	synonymous_variant	3705	exon11			GCCGCCCGCGTCG	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.1134G>A	14.37:g.93408017C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_001142593	0	0	0	0	0	Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	37	CCDS9907.1																																																																																			.		0.736	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		T	93408017	C	T	93408017	2	4	29	1	0	0	0	0	0	0	0	1	7943	639	23	1		1	ITPK1	14	93408017	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	4957247	93408017	13941523	65	5238											
SNURF	6638	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr15	25207273	25207273	+	De_novo_Start_OutOfFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcagggatcgcttacaCctgagacgaactacagaaca	9	10	1	2	rs426541	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr15:25207273C>A	ENST00000400100.1	+	0	513				SNURF_ENST00000338327.4_Missense_Mutation_p.H9Q|SNRPN_ENST00000346403.6_De_novo_Start_OutOfFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.H9Q|SNRPN_ENST00000577565.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000554227.2_De_novo_Start_OutOfFrame|SNRPN_ENST00000400098.1_De_novo_Start_OutOfFrame|SNURF_ENST00000551312.2_Missense_Mutation_p.H9Q|SNRPN_ENST00000390687.4_De_novo_Start_OutOfFrame|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_De_novo_Start_OutOfFrame|SNURF_ENST00000338094.6_Missense_Mutation_p.H9Q	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATCGCTTACACCTGAGACGAA	0.423									Prader-Willi syndrome																												p.H9Q		.											.	SNURF-90	0			c.C27A						.						141	120	127					15																	25207273		2203	4300	6503			8926	exon2	Familial Cancer Database	Prader-Labhart-Willi syndrome	CTTACACCTGAGA	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.-378C>A	15.37:g.25207273C>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	112	17	NM_005678	0	0	0	0	0	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.968783	0.34754	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	1.87	0.25490	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.26574	N	0.973501	B	0.21688	0.059	B	0.19391	0.025	T	0.28808	-1.0032	7	0.72032	D	0.01	-13.9473	5.8899	0.18904	0.0:0.7606:0.0:0.2394	.	9	Q9Y675	SNURF_HUMAN	Q	9	.	ENSP00000336543:H9Q	H	+	3	2	SNURF	22758366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.492000	0.22435	0.578000	0.29487	0.655000	0.94253	CAC	C|0.990;T|0.010		0.423	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		A	25207273	C	A	25207273	1	1	29	1	0	1	0	0	0	0	0	0	14923	506	18	3		3	SNURF	15	25207273	De_novo_Start_OutOfFrame	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		25207273	77324119	66	5239											
CDAN1	146059	bcgsc.ca	37	chr15	43017426	43017426	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttctccaccagctcccgTagcaagaatagcagcaagtc	7	16	1	1	rs16957091	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr15:43017426T>G	ENST00000356231.3	-	27	3497	c.3474A>C	c.(3472-3474)ctA>ctC	p.L1158L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1158					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCAGCTCCCGTAGCAAGAATA	0.577													G|||	2311	0.461462	0.9554	0.1916	5008	,	,		19027	0.254		0.2346	False		,,,				2504	0.4325				p.L1158L		.											.	CDAN1-92	0			c.A3474C						.	G		3640,766	312.5+/-292.6	1518,604,81	69	64	66		3474	3	1	15	dbSNP_123	66	1955,6643	724.7+/-406.5	240,1475,2584	no	coding-synonymous	CDAN1	NM_138477.2		1758,2079,2665	GG,GT,TT		22.7378,17.3854,43.0252		1158/1228	43017426	5595,7409	2203	4299	6502	SO:0001819	synonymous_variant	146059	exon27			CTCCCGTAGCAAG	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3474A>C	15.37:g.43017426T>G		Somatic	165	2		WXS	Illumina GAIIx	Phase_I	115	7	NM_138477	0	0	9	9	0	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	CCDS32209.1																																																																																			T|0.565;G|0.435		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		G	43017426	T	G	43017426	2	3	29	1	0	0	0	0	0	0	0	1	3061	1625	57	5		5	CDAN1	15	43017426	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	17810153	43017426	59513966	67	5240											
UBR1	197131	bcgsc.ca	37	chr15	43256191	43256191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcaggaacaaatttgTaggtaaagatagatagctac	11	4	0	3	rs3917223	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr15:43256191T>C	ENST00000290650.4	-	42	4720	c.4642A>G	c.(4642-4644)Aca>Gca	p.T1548A	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1548			T -> A (in dbSNP:rs3917223).		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)		AACAAATTTGTAGGTAAAGAT	0.373													T|||	166	0.033147	0.0023	0.0259	5008	,	,		18240	0.001		0.0736	False		,,,				2504	0.0716				p.T1548A		.											.	UBR1-91	0			c.A4642G						.	T	ALA/THR	73,4333	65.3+/-102.7	1,71,2131	76	73	74		4642	4.7	1	15	dbSNP_108	74	632,7966	162.2+/-214.9	26,580,3693	yes	missense	UBR1	NM_174916.2	58	27,651,5824	CC,CT,TT		7.3505,1.6568,5.4214	benign	1548/1750	43256191	705,12299	2203	4299	6502	SO:0001583	missense	197131	exon42			AATTTGTAGGTAA		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.4642A>G	15.37:g.43256191T>C	ENSP00000290650:p.Thr1548Ala	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_174916	0	0	0	0	0	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	71	0.03250915750915751	0	0.0	11	0.03038674033149171	1	0.0017482517482517483	59	0.07783641160949868	T	14.23	2.472063	0.43942	0.016568	0.073505	ENSG00000159459	ENST00000290650	T	0.48836	0.8	4.65	4.65	0.58169	.	0.113840	0.64402	D	0.000011	T	0.02012	0.0063	L	0.33245	0.995	0.80722	D	1	P	0.40083	0.702	B	0.36092	0.217	T	0.00878	-1.1530	10	0.28530	T	0.3	-28.0639	12.4581	0.55716	0.0:0.0:0.0:1.0	rs3917223;rs17719808;rs52813857;rs61722037;rs17719808	1548	Q8IWV7	UBR1_HUMAN	A	1548	ENSP00000290650:T1548A	ENSP00000290650:T1548A	T	-	1	0	UBR1	41043483	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.860000	0.55995	1.969000	0.57287	0.528000	0.53228	ACA	T|0.630;G|0.013;C|0.038;A|0.319		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43256191	T	C	43256191	3	2	29	1	0	0	0	0	1	0	0	0	16950	1638	57	4	631	4	UBR1	15	43256191	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	238765	43256191	59275201	68	5241											
PKD1	5310	hgsc.bcm.edu	37	chr16	2156447	2156447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgtgcacagcgcccaGtgggaagaggcggcaagagc	19	10	0	2	rs2003782	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:2156447G>A	ENST00000262304.4	-	18	7649	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.L2481L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2481	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCGCCCAGTGGGAAGAGG	0.716													a|||	1082	0.216054	0.5439	0.1715	5008	,	,		15215	0		0.159	False		,,,				2504	0.0859				p.L2481L		.											.	PKD1-91	0			c.C7441T						.		,	1033,1813		192,649,582	3	4	4		7441,7441	0.4	0	16	dbSNP_92	4	861,5451		64,733,2359	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	256,1382,2941	AA,AG,GG		13.6407,36.2966,20.6814	,	2481/4303,2481/4304	2156447	1894,7264	1423	3156	4579	SO:0001819	synonymous_variant	5310	exon18			CGCCCAGTGGGAA	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.7441C>T	16.37:g.2156447G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	41	23	NM_000296	0	0	7	7	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.793;A|0.207		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2156447	G	A	2156447	2	1	29	1	0	0	0	0	0	0	0	1	12002	1020	36	3		3	PKD1	16	2156447	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		2156447	88198306	69	5242											
SETD1A	9739	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	30976945	30976945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccatgctcttctggagaCgacatggagatctccgacga	10	12	4	2	rs146323096	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:30976945C>T	ENST00000262519.8	+	8	2429	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	581	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D581D(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTTCTGGAGACGACATGGAGA	0.667													C|||	2	0.000399361	0	0	5008	,	,		11093	0.002		0	False		,,,				2504	0				p.D581D		.											.	SETD1A-93	1	Substitution - coding silent(1)	ovary(1)	c.C1743T						.	C		2,4386		0,2,2192	23	27	26		1743	2.4	1	16	dbSNP_134	26	0,8586		0,0,4293	no	coding-synonymous	SETD1A	NM_014712.1		0,2,6485	TT,TC,CC		0.0,0.0456,0.0154		581/1708	30976945	2,12972	2194	4293	6487	SO:0001819	synonymous_variant	9739	exon8			TGGAGACGACATG	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1743C>T	16.37:g.30976945C>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	75	38	NM_014712	0	0	0	0	0	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																			C|1.000;T|0.000		0.667	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30976945	C	T	30976945	2	4	29	1	0	0	0	0	0	0	0	1	14175	535	19	1		1	SETD1A	16	30976945	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	28820498	30976945	59377808	70	5243											
BCAR1	9564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	75269596	75269596	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgtcgaccacgccaccatCagccacctcaggaggaagca	9	16	2	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:75269596C>G	ENST00000162330.5	-	5	1327	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	BCAR1_ENST00000535626.2_Missense_Mutation_p.D253H|BCAR1_ENST00000393420.6_Missense_Mutation_p.D419H|BCAR1_ENST00000546196.1_Missense_Mutation_p.D372H|BCAR1_ENST00000542031.2_Missense_Mutation_p.D399H|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.D419H|BCAR1_ENST00000538440.2_Missense_Mutation_p.D401H|BCAR1_ENST00000418647.3_Missense_Mutation_p.D447H|BCAR1_ENST00000393422.2_Missense_Mutation_p.D419H	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	401	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACGCCACCATCAGCCACCTCA	0.692																																					p.D447H		.											.	BCAR1-1145	0			c.G1339C						.						30	36	34					16																	75269596		2197	4300	6497	SO:0001583	missense	9564	exon6			CACCATCAGCCAC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1201G>C	16.37:g.75269596C>G	ENSP00000162330:p.Asp401His	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	207	96	NM_001170714	0	0	8	11	3	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691029	0.30052	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.38887	1.22;1.74;1.51;1.33;1.51;1.11;1.32;1.22;3.01	4.44	3.47	0.39725	.	0.690744	0.13504	N	0.383004	T	0.42630	0.1211	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D;P;D;D;D	0.69078	0.99;0.997;0.994;0.994;0.995;0.874;0.994;0.99;0.975	P;P;P;P;P;P;P;P;P	0.62740	0.751;0.874;0.751;0.808;0.906;0.461;0.808;0.647;0.647	T	0.14868	-1.0457	10	0.44086	T	0.13	-7.6946	7.5644	0.27870	0.0:0.7998:0.0:0.2002	.	419;253;447;399;419;419;401;401;191	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	H	401;419;419;401;447;253;419;399;372	ENSP00000162330:D401H;ENSP00000377074:D419H;ENSP00000392708:D419H;ENSP00000443841:D401H;ENSP00000391669:D447H;ENSP00000440370:D253H;ENSP00000377072:D419H;ENSP00000440415:D399H;ENSP00000442161:D372H	ENSP00000162330:D401H	D	-	1	0	BCAR1	73827097	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	1.081000	0.30791	0.992000	0.38840	0.558000	0.71614	GAT	.		0.692	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		G	75269596	C	G	75269596	3	3	29	1	0	0	0	0	1	0	0	0	1349	826	29	3	1423	3	BCAR1	16	75269596	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	44292651	75269596	15085157	71	5244											
ADAD2	161931	hgsc.bcm.edu	37	chr16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaaagtgcctgggGgcccgcgcccgcgcccgcga	15	19	0	0	rs8044695|rs554488585	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000567413.1_3'UTR|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5	7	7		131,131	-1.1	0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84224967	G	A	84224967	3	1	29	1	0	0	0	0	1	0	0	0	232	1232	43	3	133	3	ADAD2	16	84224967	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	8955371	84224967	6129786	72	5245											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	12	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	29	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-OR-A5K8-01A-11D-A29I-10	4374729	88599696	1755057	73	5246	38	2									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	29	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5K8-01A-11D-A29I-10	1	88599697	1755056	74	5247	38	2									
MINK1	1145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4798460	4798460	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaatcccaccaacacccGggcccacagtgagacccctg	9	18	0	2	rs370042103		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr17:4798460G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.R983Q|MINK1_ENST00000355280.6_Missense_Mutation_p.R1003Q|MINK1_ENST00000347992.7_Missense_Mutation_p.R974Q	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)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACCAACACCCGGGCCCACAGT	0.602																																					p.R1003Q		.											.	MINK1-943	0			c.G3008A						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4004		0,0,2002	564	522	535		2948,2897,3008,2921	5.3	1	17		535	1,8363		0,1,4181	no	missense,missense,missense,missense	MINK1	NM_001024937.3,NM_015716.4,NM_153827.4,NM_170663.4	43,43,43,43	0,1,6183	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign,benign	983/1313,966/1296,1003/1333,974/1304	4798460	1,12367	2002	4182	6184	SO:0001628	intergenic_variant	50488	exon25			ACACCCGGGCCCA	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.4798460G>A		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	98	83	NM_153827	0	0	0	2	2	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085461	0.94100	0.0	1.2E-4	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.76186	-0.99;-1.0;-0.98	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.83384	2.64	0.58432	D	0.999998	B;D;D;D	0.67145	0.433;0.996;0.993;0.996	B;P;P;P	0.54140	0.088;0.743;0.558;0.743	D	0.85988	0.1487	10	0.66056	D	0.02	.	16.4886	0.84191	0.0:0.0:1.0:0.0	.	966;983;1003;974	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Q	1003;983;974	ENSP00000347427:R1003Q;ENSP00000406487:R983Q;ENSP00000269296:R974Q	ENSP00000269296:R974Q	R	+	2	0	MINK1	4739236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.757000	0.94681	0.655000	0.94253	CGG	.		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			A	4798460	G	A	4798460	1	1	29	0	1	0	0	0	0	0	0	0	9625	1116	39	1		1	MINK1	17	4798460	IGR	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		4798460	76396750	75	5248											
CRHR1	1394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	43907881	43907881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcacacagccatcgtGctcacctactccactgaccg	6	18	1	1	rs369145044		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr17:43907881G>A	ENST00000398285.3	+	8	741	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CRHR1_ENST00000352855.5_Silent_p.V178V|CRHR1_ENST00000577353.1_Silent_p.V218V|CRHR1_ENST00000339069.5_Silent_p.V117V|CRHR1_ENST00000293493.7_Silent_p.V43V|CRHR1_ENST00000314537.5_Silent_p.V218V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	247					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CAGCCATCGTGCTCACCTACT	0.617																																					p.V247V	Ovarian(110;57 1568 10207 38216 49865)	.											.	CRHR1-522	0			c.G741A						.	G	,,,	1,4403	2.1+/-5.4	0,1,2201	94	97	96		741,534,654,654	3.2	1	17		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CRHR1	NM_001145146.1,NM_001145147.1,NM_001145148.1,NM_004382.4	,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,	247/445,178/376,218/402,218/416	43907881	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1394	exon8			CATCGTGCTCACC	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.741G>A	17.37:g.43907881G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	89	77	NM_001145146	0	0	0	0	0	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	CCDS45712.1																																																																																			.		0.617	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			A	43907881	G	A	43907881	2	1	29	1	0	0	0	0	0	0	0	1	3878	1306	46	3		3	CRHR1	17	43907881	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	39109421	43907881	37287329	76	5249											
PGS1	9489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76394346	76394346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaggtggactgcctggAaagtactctagaaaagtcac	12	7	2	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr17:76394346A>G	ENST00000262764.6	+	4	451	c.425A>G	c.(424-426)gAa>gGa	p.E142G	PGS1_ENST00000329897.7_Missense_Mutation_p.E7G|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	142					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GACTGCCTGGAAAGTACTCTA	0.453																																					p.E142G	Esophageal Squamous(45;182 1126 10685 43198)	.											.	PGS1-90	0			c.A425G						.						178	189	185					17																	76394346		1886	4107	5993	SO:0001583	missense	9489	exon4			GCCTGGAAAGTAC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.425A>G	17.37:g.76394346A>G	ENSP00000262764:p.Glu142Gly	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	31	25	NM_024419	0	0	0	0	0	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840660	0.51057	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	T	0.23552	1.9	5.56	5.56	0.83823	.	0.051473	0.85682	D	0.000000	T	0.36054	0.0953	L	0.56199	1.76	0.50813	D	0.999893	P	0.49185	0.92	P	0.50860	0.652	T	0.05920	-1.0856	10	0.44086	T	0.13	-16.5523	14.2909	0.66278	1.0:0.0:0.0:0.0	.	142	Q32NB8	PGPS1_HUMAN	G	142;7;7	ENSP00000262764:E142G	ENSP00000262764:E142G	E	+	2	0	PGS1	73905941	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.191000	0.72063	2.103000	0.63969	0.533000	0.62120	GAA	.		0.453	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		G	76394346	A	G	76394346	3	3	29	1	0	0	0	0	1	0	0	0	11847	246	9	4	439	4	PGS1	17	76394346	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	32486465	76394346	4800864	77	5250											
OSBPL1A	114876	bcgsc.ca	37	chr18	21752366	21752366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttataatttccacattgccAtactgttcgatccacagttt	4	10	0	0	rs2077984	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr18:21752366A>G	ENST00000319481.3	-	22	2381	c.2175T>C	c.(2173-2175)taT>taC	p.Y725Y	RNA5SP452_ENST00000363004.1_RNA|OSBPL1A_ENST00000399443.3_Silent_p.Y212Y|OSBPL1A_ENST00000357041.4_Silent_p.Y343Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	725					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCACATTGCCATACTGTTCGA	0.388													G|||	605	0.120807	0.3222	0.0317	5008	,	,		19396	0.0724		0.0169	False		,,,				2504	0.0685				p.Y725Y		.											.	OSBPL1A-94	0			c.T2175C						.	G	,,	1165,3241	712.6+/-408.1	158,849,1196	204	178	187		1029,636,2175	-8.7	0.5	18	dbSNP_96	187	126,8474	813.9+/-407.0	0,126,4174	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	,,	158,975,5370	GG,GA,AA		1.4651,26.4412,9.9262	,,	343/569,212/438,725/951	21752366	1291,11715	2203	4300	6503	SO:0001819	synonymous_variant	114876	exon22			ATTGCCATACTGT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2175T>C	18.37:g.21752366A>G		Somatic	183	2		WXS	Illumina GAIIx	Phase_I	111	6	NM_080597	0	0	1	1	0	B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																			A|0.894;G|0.106		0.388	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		G	21752366	A	G	21752366	2	3	29	1	0	0	0	0	0	0	0	1	11316	224	8	4		4	OSBPL1A	18	21752366	Silent	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10		21752366	56324882	78	5251											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929741	929741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgggctgcagctgcgggCctgggacacccagccagccc	15	16	0	0	rs34967265	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:929741C>T	ENST00000263620.3	+	2	540	c.213C>T	c.(211-213)ggC>ggT	p.G71G	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	71						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCGGGCCTGGGACACC	0.766													c|||	805	0.160743	0.354	0.1167	5008	,	,		8522	0.0873		0.0586	False		,,,				2504	0.1115				p.G71G	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.C213T						.	C		862,2694		85,692,1001	3	5	4		213	2.4	0.4	19	dbSNP_126	4	366,7224		12,342,3441	no	coding-synonymous	ARID3A	NM_005224.2		97,1034,4442	TT,TC,CC		4.8221,24.2407,11.0174		71/594	929741	1228,9918	1778	3795	5573	SO:0001819	synonymous_variant	1820	exon2			TGCGGGCCTGGGA	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.213C>T	19.37:g.929741C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			C|0.865;T|0.135		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		T	929741	C	T	929741	2	4	29	1	0	0	0	0	0	0	0	1	916	726	26	3		3	ARID3A	19	929741	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		929741	58199242	79	5252			3	27		2	2	13	N	C_A	3.876304e-05
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	29	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	12	929753	58199230	80	5253			3	27		2	2	13	N	C_A	3.876304e-05
C19orf6	91304	hgsc.bcm.edu	37	chr19	1010396	1010396	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgttggggccatggaggccgGgctaggcccgcctaccgcag	17	14	0	0	rs77868901	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:1010396G>C	ENST00000356663.3	-	11	1937	c.1816C>G	c.(1816-1818)Ccg>Gcg	p.P606A	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	606						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P606S(1)									ATGGAGGCCGGGCTAGGCCCG	0.726													N|||	155	0.0309505	0.0136	0.0058	5008	,	,		11720	0.0169		0.0457	False		,,,				2504	0.0716				p.P606A		.											.	.	1	Substitution - Missense(1)	skin(1)	c.C1816G						.		ALA/PRO,	48,3754		0,48,1853	3	4	4		1816,	-0.4	0	19	dbSNP_131	4	183,7553		2,179,3687	yes	missense,utr-3	C19orf6	NM_001033026.1,NM_033420.3	27,	2,227,5540	CC,CG,GG		2.3656,1.2625,2.0021	benign,	606/621,	1010396	231,11307	1901	3868	5769	SO:0001583	missense	91304	exon11			AGGCCGGGCTAGG	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1816C>G	19.37:g.1010396G>C	ENSP00000349087:p.Pro606Ala	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	27	10	NM_001033026	0	0	83	163	80	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	CCDS32862.1	64	0.029304029304029304	12	0.024390243902439025	2	0.0055248618784530384	9	0.015734265734265736	41	0.05408970976253298	G	10.39	1.338342	0.24253	0.012625	0.023656	ENSG00000182087	ENST00000356663	.	.	.	3.36	-0.399	0.12415	.	0.456049	0.19721	N	0.107600	T	0.01940	0.0061	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.14727	-1.0462	9	0.22109	T	0.4	-0.4483	4.0757	0.09902	0.4474:0.1805:0.3721:0.0	.	606	Q4ZIN3	MBRL_HUMAN	A	606	.	ENSP00000349087:P606A	P	-	1	0	C19orf6	961396	0.005000	0.15991	0.021000	0.16686	0.040000	0.13550	-0.036000	0.12185	-0.082000	0.12640	0.500000	0.49745	CCG	G|0.970;C|0.030		0.726	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		C	1010396	G	C	1010396	3	2	29	1	0	0	0	0	1	0	0	0	1948	1232	43	3	50	3	C19orf6	19	1010396	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	80643	1010396	58118587	81	5254											
REXO1	57455	hgsc.bcm.edu	37	chr19	1827378	1827415	+	Frame_Shift_Del	DEL	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	-													agggggcggggtgggcctctGccggccgccggtcgggagtc					rs371311794|rs377354747|rs538132404	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:1827378_1827415delGCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	ENST00000170168.4	-	2	1467_1504	c.1373_1410delCGAGCCCCACAAGCGGGGACTCCCGACCGGCGGCCGGC	c.(1372-1410)ccgagccccacaagcggggactcccgaccggcggccggcfs	p.PSPTSGDSRPAAG458fs	REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	458						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGCCTCTGCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCGGCCGCCGCGC	0.714																																					p.458_470del		.											.	REXO1-90	0			c.1373_1410del						.																																			SO:0001589	frameshift_variant	57455	exon2			GCCTCTGCCGGCC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1373_1410delCGAGCCCCACAAGCGGGGACTCCCGACCGGCGGCCGGC	19.37:g.1827378_1827415delGCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	ENSP00000170168:p.Pro458fs	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	20	11	NM_020695	0	0	0	0	0	Q9ULT2	Frame_Shift_Del	DEL	ENST00000170168.4	37	CCDS32866.1																																																																																			.		0.714	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		-	1827415	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	-	1827378	7	5	29	1	0	1	0	1	0	0	0	0	13286	1306	46	0	2315	0	REXO1	19	1827378	Frame_Shift_Del	DEL	GCCGGCCGCCGGTCGGGAGTCCCCGCTTGTGGGGCTCG	TCGA-OR-A5K8-01A-11D-A29I-10	816982	1827378	57301605	82	5255											
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	9060456	9060456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggggtcagggtggatGttgactccatctcaattctt	14	7	3	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:9060456G>T	ENST00000397910.4	-	3	27193	c.26990C>A	c.(26989-26991)aCa>aAa	p.T8997K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8999	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						CAGGGTGGATGTTGACTCCAT	0.498																																					p.T8997K		.											.	MUC16-566	0			c.C26990A						.						157	150	152					19																	9060456		2087	4215	6302	SO:0001583	missense	94025	exon3			GTGGATGTTGACT	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.26990C>A	19.37:g.9060456G>T	ENSP00000381008:p.Thr8997Lys	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	213	80	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.968	0.548491	0.13312	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.62	-3.32	0.04973	.	.	.	.	.	T	0.01800	0.0057	N	0.12746	0.255	.	.	.	P	0.45827	0.867	P	0.44477	0.451	T	0.37526	-0.9702	8	0.87932	D	0	.	0.7226	0.00943	0.2471:0.182:0.3855:0.1854	.	8997	B5ME49	.	K	8997	ENSP00000381008:T8997K	ENSP00000381008:T8997K	T	-	2	0	MUC16	8921456	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-2.907000	0.00700	-0.495000	0.06659	0.306000	0.20318	ACA	.		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9060456	G	T	9060456	3	4	29	1	0	0	0	0	1	0	0	0	10011	1377	48	3	16861	3	MUC16	19	9060456	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	7233078	9060456	50068527	83	5256											
SLC44A2	57153	hgsc.bcm.edu	37	chr19	10745635	10745674	+	Splice_Site	DEL	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	-													gggagcccagccggctcagcCtttgccctttgcagtgatca					rs188956220|rs376045718|rs371389060		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:10745635_10745674delCTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	ENST00000335757.5	+	12	1331_1356	c.955_980delCTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	c.(955-981)ctttgccctttgcagtgatcattctga>a	p.LCPLQ*SF*319fs	SLC44A2_ENST00000407327.4_Splice_Site_p.LCPLQ*SF*317fs|SLC44A2_ENST00000586078.1_Splice_Site_p.LCPLQ*SF*319fs			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	319					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.L325L(1)|p.I321F(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCGGCTCAGCCTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGTCATTATCATC	0.562																																					p.319_327del		.											.	SLC44A2-91	2	Substitution - Missense(1)|Substitution - coding silent(1)	endometrium(2)	c.956_980del						.																																			SO:0001630	splice_region_variant	57153	exon12			CTCAGCCTTTGCC	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.956-1CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT>-	19.37:g.10745635_10745674delCTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	81	28	NM_020428	0	0	0	0	0	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Frame_Shift_Del	DEL	ENST00000335757.5	37	CCDS12245.1																																																																																			.		0.562	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		Frame_Shift_Del	-	10745674	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	-	10745635	8	5	29	1	0	1	0	1	0	0	1	0	14681	696	24	0		0	SLC44A2	19	10745635	Splice_Site	DEL	CTTTGCCCTTTGCAGTGATCATTCTGAGTATCCTTGAAGT	TCGA-OR-A5K8-01A-11D-A29I-10	1685179	10745635	48383348	84	5257											
OR10H3	26532	bcgsc.ca	37	chr19	15852621	15852621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatgctaatgagtccccGtggctgtgcccatcttgtgg	11	12	1	1	rs151318110		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:15852621G>A	ENST00000305892.1	+	1	419	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATGAGTCCCCGTGGCTGTGCC	0.517													g|||	1	0.000199681	0	0	5008	,	,		24449	0		0	False		,,,				2504	0.001				p.R140H		.											.	OR10H3-68	0			c.G419A						.						181	147	159					19																	15852621		2203	4300	6503	SO:0001583	missense	26532	exon1			GTCCCCGTGGCTG		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.419G>A	19.37:g.15852621G>A	ENSP00000307130:p.Arg140His	Somatic	168	3		WXS	Illumina GAIIx	Phase_I	238	114	NM_013938	0	0	0	0	0	Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	0.184	-1.059401	0.01950	.	.	ENSG00000171936	ENST00000305892	T	0.42513	0.97	2.35	-0.102	0.13613	GPCR, rhodopsin-like superfamily (1);	1.255120	0.05976	N	0.643223	T	0.36717	0.0977	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.34675	-0.9819	10	0.52906	T	0.07	.	5.4555	0.16588	0.4112:0.0:0.5888:0.0	.	140	O60404	O10H3_HUMAN	H	140	ENSP00000307130:R140H	ENSP00000307130:R140H	R	+	2	0	OR10H3	15713621	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.454000	0.01004	-0.038000	0.13624	-3.030000	0.00073	CGT	G|0.999;T|0.001		0.517	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			A	15852621	G	A	15852621	3	1	29	1	0	0	0	0	1	0	0	0	10946	1145	40	1	421	1	OR10H3	19	15852621	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	5106986	15852621	43276362	85	5258											
ANO8	57719	broad.mit.edu	37	chr19	17438052	17438052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcccccctaccttaaaggCctcgcggcgctggtactcca	10	17	0	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:17438052C>A	ENST00000159087.4	-	16	2811	c.2653G>T	c.(2653-2655)Gcc>Tcc	p.A885S		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	885					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						ACCTTAAAGGCCTCGCGGCGC	0.602																																					p.A885S		.											.	ANO8-93	0			c.G2653T						.						14	12	13					19																	17438052		1853	3629	5482	SO:0001583	missense	57719	exon16			TAAAGGCCTCGCG	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.2653G>T	19.37:g.17438052C>A	ENSP00000159087:p.Ala885Ser	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	80	6	NM_020959	0	0	0	0	0	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743129	0.49151	.	.	ENSG00000074855	ENST00000159087	T	0.66099	-0.19	4.94	3.88	0.44766	.	0.051001	0.85682	D	0.000000	T	0.57344	0.2047	L	0.55990	1.75	0.36655	D	0.877604	P	0.46395	0.877	B	0.40741	0.339	T	0.68194	-0.5473	10	0.56958	D	0.05	.	13.2423	0.60004	0.0:0.8385:0.1615:0.0	.	885	Q9HCE9	ANO8_HUMAN	S	885	ENSP00000159087:A885S	ENSP00000159087:A885S	A	-	1	0	ANO8	17299052	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	5.608000	0.67654	1.187000	0.43000	-0.479000	0.04858	GCC	.		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17438052	C	A	17438052	3	1	29	1	0	0	0	0	1	0	0	0	703	739	26	3	1057	3	ANO8	19	17438052	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	1585431	17438052	41690931	86	5259											
KIAA0892	23383	hgsc.bcm.edu	37	chr19	19431690	19431704	+	In_Frame_Del	DEL	GCGGCCCAGGCGGCG	GCGGCCCAGGCGGCG	-													tggcggctcaggcggcggcaGcggcccaggcggcggcggcc					rs553682593|rs375425486|rs550594758	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	GCGGCCCAGGCGGCG	GCGGCCCAGGCGGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:19431690_19431704delGCGGCCCAGGCGGCG	ENST00000392313.6	+	1	201_215	c.22_36delGCGGCCCAGGCGGCG	c.(22-36)gcggcccaggcggcgdel	p.AAQAA13del	MAU2_ENST00000262815.8_In_Frame_Del_p.AAQAA13del|SUGP1_ENST00000585763.1_5'Flank|SUGP1_ENST00000334782.5_5'Flank|SUGP1_ENST00000247001.5_5'Flank	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	13	Ala-rich.|Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ggcggcggcagcggcccaggcggcggcggcccagg	0.735																																					p.8_12del		.											.	MAU2-91	0			c.22_36del						.			89,1901		39,11,945						-8.2	0.6			3	148,4936		53,42,2447	no	coding	MAU2	NM_015329.3		92,53,3392	A1A1,A1R,RR		2.9111,4.4724,3.3503				237,6837				SO:0001651	inframe_deletion	23383	exon1			GCGGCAGCGGCCC	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.22_36delGCGGCCCAGGCGGCG	19.37:g.19431690_19431704delGCGGCCCAGGCGGCG	ENSP00000376127:p.Ala13_Ala17del	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	64	48	NM_015329	0	0	0	0	0	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	In_Frame_Del	DEL	ENST00000392313.6	37	CCDS32969.2																																																																																			.		0.735	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		-	19431704	GCGGCCCAGGCGGCG	-	19431690	7	5	29	1	0	1	0	1	0	0	0	0	8223	971	34	0	24	0	KIAA0892	19	19431690	In_Frame_Del	DEL	GCGGCCCAGGCGGCG	TCGA-OR-A5K8-01A-11D-A29I-10	1993638	19431690	39697293	87	5260											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	29	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	13735765	33167455	25961528	88	5261											
NUDT19	390916	hgsc.bcm.edu	37	chr19	33183352	33183352	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccctggagccaccgccGggcctggcctcctggcgcga	14	19	0	0	rs61732600	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:33183352G>C	ENST00000397061.3	+	1	486	c.486G>C	c.(484-486)ccG>ccC	p.P162P	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	162	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGCCACCGCCGGGCCTGGCCT	0.751													G|||	1109	0.221446	0.1498	0.245	5008	,	,		11161	0.249		0.3062	False		,,,				2504	0.1861				p.P162P		.											.	NUDT19-22	0			c.G486C						.	G		469,2861		40,389,1236	4	5	5		486	-9.6	0	19	dbSNP_129	5	1887,5465		292,1303,2081	no	coding-synonymous	NUDT19	NM_001105570.1		332,1692,3317	CC,CG,GG		25.6665,14.0841,22.0558		162/376	33183352	2356,8326	1665	3676	5341	SO:0001819	synonymous_variant	390916	exon1			ACCGCCGGGCCTG		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.486G>C	19.37:g.33183352G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	8	NM_001105570	0	0	0	0	0		Silent	SNP	ENST00000397061.3	37	CCDS42543.1																																																																																			G|0.743;C|0.257		0.751	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		C	33183352	G	C	33183352	2	2	29	1	0	0	0	0	0	0	0	1	10775	1103	39	2		2	NUDT19	19	33183352	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10	15897	33183352	25945631	89	5262											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	10	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	29	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	6257566	39440918	19688065	90	5263											
DLL3	10683	hgsc.bcm.edu	37	chr19	39989862	39989862	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtcttcgagctgcagAtccactctttcgggccgggt	13	13	2	1			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:39989862A>T	ENST00000205143.4	+	2	107	c.100A>T	c.(100-102)Atc>Ttc	p.I34F	DLL3_ENST00000356433.5_Missense_Mutation_p.I34F|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	34					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGCTGCAGATCCACTCTTT	0.731																																					p.I34F		.											.	DLL3-1083	0			c.A100T						.						5	6	6					19																	39989862		2091	4107	6198	SO:0001583	missense	10683	exon2			CTGCAGATCCACT	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.100A>T	19.37:g.39989862A>T	ENSP00000205143:p.Ile34Phe	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	29	17	NM_016941	0	0	0	0	0	E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290523	0.59976	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.98150	-4.75;-4.75	4.17	2.04	0.26737	Notch ligand, N-terminal (1);	0.182059	0.26727	N	0.022807	D	0.97807	0.9280	M	0.72894	2.215	0.47009	D	0.999284	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.977;0.967	D	0.96627	0.9464	9	.	.	.	.	7.8006	0.29172	0.8284:0.0:0.1716:0.0	.	34;34;34	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	F	34	ENSP00000348810:I34F;ENSP00000205143:I34F	.	I	+	1	0	DLL3	44681702	1.000000	0.71417	0.996000	0.52242	0.281000	0.26958	2.434000	0.44802	1.523000	0.49018	0.459000	0.35465	ATC	.		0.731	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			T	39989862	A	T	39989862	3	4	29	1	0	0	0	0	1	0	0	0	4581	333	12	5	106	5	DLL3	19	39989862	Missense_Mutation	SNP	A	TCGA-OR-A5K8-01A-11D-A29I-10	548944	39989862	19139121	91	5264											
ZNF233	353355	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	44777858	44777858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgtcaggtatatgccCggagctccaaccagaactcc	9	13	1	2	rs143381681		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:44777858C>T	ENST00000391958.2	+	5	1172	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331W|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGTATATGCCCGGAGCTCCAA	0.527																																					p.R349W		.											.	ZNF233-92	0			c.C1045T						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	100	95	96		1045,1045	-2.9	0	19	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ZNF233	NM_001207005.1,NM_181756.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	349/671,349/671	44777858	2,13004	2203	4300	6503	SO:0001583	missense	353355	exon5			TATGCCCGGAGCT	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.1045C>T	19.37:g.44777858C>T	ENSP00000375820:p.Arg349Trp	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	138	71	NM_001207005	0	0	0	0	0	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549595	0.45383	0.0	2.33E-4	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16196	2.36;2.36	4.29	-2.88	0.05682	.	.	.	.	.	T	0.12561	0.0305	M	0.76002	2.32	0.09310	N	1	P	0.46578	0.88	B	0.32805	0.153	T	0.18650	-1.0330	9	0.87932	D	0	0.0227	1.5499	0.02572	0.4551:0.2456:0.1825:0.1168	.	349	A6NK53	ZN233_HUMAN	W	331;349;270	ENSP00000334957:R331W;ENSP00000375820:R349W	ENSP00000280305:R270W	R	+	1	2	ZNF233	49469698	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.004000	0.13106	-0.404000	0.07610	0.609000	0.83330	CGG	C|1.000;T|0.000		0.527	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		T	44777858	C	T	44777858	3	4	29	1	0	0	0	0	1	0	0	0	17834	643	23	1	1059	1	ZNF233	19	44777858	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	4787996	44777858	14351125	92	5265											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	74	30	NM_000041	0	0	109	313	204	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	29	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	634083	45411941	13717042	93	5266											
APOE	348	hgsc.bcm.edu	37	chr19	45412079	45412079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatgacctgcagaagCgcctggcagtgtaccaggcc	13	13	0	2	rs7412	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:45412079C>T	ENST00000252486.4	+	4	637	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	176	8 X 22 AA approximate tandem repeats.		R -> C (in HLPP3; forms E1 Weisgraber, form E2 and form E3**; dbSNP:rs7412). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTGCAGAAGCGCCTGGCAGT	0.746													c|||	376	0.0750799	0.1029	0.0476	5008	,	,		8311	0.1002		0.0626	False		,,,				2504	0.044				p.R176C		.											.	APOE-90	0			c.C526T	GRCh37	CM860003	APOE	M	rs7412	.	C	CYS/ARG	271,2853		8,255,1299	3	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	526	4.1	1	19	dbSNP_52	3	356,5976		6,344,2816	yes	missense	APOE	NM_000041.2	180	14,599,4115	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	5.6222,8.6748,6.6307	probably-damaging	176/318	45412079	627,8829	1562	3166	4728	SO:0001583	missense	348	exon4			CAGAAGCGCCTGG	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.526C>T	19.37:g.45412079C>T	ENSP00000252486:p.Arg176Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_000041	0	1	86	149	62	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	162	0.07417582417582418	46	0.09349593495934959	23	0.06353591160220995	43	0.07517482517482517	50	0.06596306068601583	C	15.82	2.945479	0.53079	0.086748	0.056222	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.74947	-0.89;-0.89;-0.89	5.09	4.05	0.47172	Apolipoprotein/apolipophorin (1);	0.000000	0.50627	D	0.000104	T	0.20414	0.0491	M	0.81682	2.555	0.37880	D	0.930361	D	0.89917	1.0	D	0.97110	1.0	T	0.65998	-0.6032	10	0.66056	D	0.02	-7.7588	6.5628	0.22495	0.1808:0.7277:0.0:0.0915	rs7412;rs3200542	176	P02649	APOE_HUMAN	C	176;176;221;176	ENSP00000252486:R176C;ENSP00000413135:R176C;ENSP00000410423:R176C	ENSP00000252486:R176C	R	+	1	0	APOE	50103919	0.986000	0.35501	1.000000	0.80357	0.351000	0.29236	0.344000	0.19962	1.134000	0.42165	0.555000	0.69702	CGC	C|0.933;T|0.067		0.746	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		T	45412079	C	T	45412079	3	4	29	1	0	0	0	0	1	0	0	0	802	768	27	1	536	1	APOE	19	45412079	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	138	45412079	13716904	94	5267											
NR1H2	7376	hgsc.bcm.edu	37	chr19	50881832	50881866	+	Frame_Shift_Del	DEL	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	-													agattcggaaacagcagcagGagtcacagtcacagtcgcag					rs75450723|rs190497316|rs373521285|rs376476625	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:50881832_50881866delGAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	ENST00000253727.5	+	6	761_795	c.526_560delGAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	c.(526-561)gagtcacagtcacagtcgcagtcacctgtggggccgfs	p.ESQSQSQSPVGP176fs	NR1H2_ENST00000411902.2_Frame_Shift_Del_p.ESQSQSQSPVGP79fs|NR1H2_ENST00000599105.1_Frame_Shift_Del_p.ESQSQSQSPVGP176fs|NR1H2_ENST00000598168.1_Frame_Shift_Del_p.ESQSQSQSPVGP176fs|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Frame_Shift_Del_p.ESQSQSQSPVGP176fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	176					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACAGCAGCAGGAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCCGCAGGGCAGC	0.638																																					p.176_187del		.											.	NR1H2-186	0			c.526_560del						.																																			SO:0001589	frameshift_variant	7376	exon6			CAGCAGGAGTCAC	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.526_560delGAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	19.37:g.50881832_50881866delGAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	ENSP00000253727:p.Glu176fs	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	104	0	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Del	DEL	ENST00000253727.5	37	CCDS42593.1																																																																																			.		0.638	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			-	50881866	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	-	50881832	7	5	29	1	0	1	0	1	0	0	0	0	10656	1175	41	0	540	0	NR1H2	19	50881832	Frame_Shift_Del	DEL	GAGTCACAGTCACAGTCGCAGTCACCTGTGGGGCC	TCGA-OR-A5K8-01A-11D-A29I-10	5469753	50881832	8247151	95	5268											
NR1H2	7376	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	50881858	50881864	+	Frame_Shift_Del	DEL	TGTGGGG	TGTGGGG	-													cagtcacagtcgcagtcaccTgtggggccgcagggcagcag							TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	TGTGGGG	TGTGGGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:50881858_50881864delTGTGGGG	ENST00000253727.5	+	6	787_793	c.552_558delTGTGGGG	c.(550-558)cctgtggggfs	p.PVG184fs	NR1H2_ENST00000411902.2_Frame_Shift_Del_p.PVG87fs|NR1H2_ENST00000599105.1_Frame_Shift_Del_p.PVG184fs|NR1H2_ENST00000598168.1_Frame_Shift_Del_p.PVG184fs|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Frame_Shift_Del_p.PVG184fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	184					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGCAGTCACCTGTGGGGCCGCAGGGCA	0.628																																					p.184_186del		.											.	NR1H2-186	0			c.552_558del						.																																			SO:0001589	frameshift_variant	7376	exon6			GTCACCTGTGGGG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.552_558delTGTGGGG	19.37:g.50881858_50881864delTGTGGGG	ENSP00000253727:p.Pro184fs	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	80	0	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Del	DEL	ENST00000253727.5	37	CCDS42593.1																																																																																			.		0.628	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			-	50881864	TGTGGGG	-	50881858	7	5	29	1	0	1	0	1	0	0	0	0	10656	1567	55	0	566	0	NR1H2	19	50881858	Frame_Shift_Del	DEL	TGTGGGG	TCGA-OR-A5K8-01A-11D-A29I-10	26	50881858	8247125	96	5269	39	2									
NR1H2	7376	bcgsc.ca	37	chr19	50881865	50881866	+	Missense_Mutation	DNP	CC	CC	AA													agtcgcagtcacctgtggggCcgcagggcagcagcagctca					rs376476625		TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr19:50881865_50881866CC>AA	ENST00000253727.5	+	6	794_795	c.559_560CC>AA	c.(559-561)CCg>AAg	p.P187K	NR1H2_ENST00000411902.2_Missense_Mutation_p.P90K|NR1H2_ENST00000599105.1_Missense_Mutation_p.P187K|NR1H2_ENST00000598168.1_Missense_Mutation_p.P187K|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.P187K	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	187					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCTGTGGGGCCGCAGGGCAGC	0.624																																					p.P187K		.											.	NR1H2-186	0			c.C560A						.																																			SO:0001583	missense	7376	exon6			TGGGGCCGCAGGG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		Exception_encountered	19.37:g.50881865_50881866delinsAA	ENSP00000253727:p.Pro187Lys	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	66	4	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	DNP	ENST00000253727.5	37	CCDS42593.1																																																																																			.		0.624	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			AA	50881866	CC	AA	50881865	3	1	29	1	0	0	0	0	1	0	0	0	10656	739	26	3	573	3	NR1H2	19	50881865	Missense_Mutation	DNP	CC	TCGA-OR-A5K8-01A-11D-A29I-10	7	50881865	8247118	97	5270	39	2									
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	7	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	29	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10		37377139	25648381	98	5271											
SULF2	55959	broad.mit.edu	37	chr20	46300955	46300955	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttactcttcttgaagagTtttttccggcgtccggccag	9	12	2	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr20:46300955T>G	ENST00000359930.4	-	11	2414	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	SULF2_ENST00000484875.1_Missense_Mutation_p.K521N|SULF2_ENST00000361612.4_Missense_Mutation_p.K521N|SULF2_ENST00000467815.1_Missense_Mutation_p.K521N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	521					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTTGAAGAGTTTTTTCCGGC	0.597																																					p.K521N		.											.	SULF2-293	0			c.A1563C						.						70	69	69					20																	46300955		2203	4300	6503	SO:0001583	missense	55959	exon11			GAAGAGTTTTTTC	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1563A>C	20.37:g.46300955T>G	ENSP00000353007:p.Lys521Asn	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	103	6	NM_001161841	0	0	0	0	0	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	9.641	1.139008	0.21205	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	4.75	3.78	0.43462	Alkaline-phosphatase-like, core domain (1);	0.380724	0.28742	N	0.014286	D	0.96806	0.8957	L	0.42245	1.32	0.32627	N	0.522548	B;B	0.21688	0.002;0.059	B;B	0.24006	0.006;0.05	D	0.96430	0.9318	10	0.19147	T	0.46	-15.8358	11.1877	0.48666	0.0:0.8323:0.0:0.1677	.	521;521	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	N	521	ENSP00000353007:K521N;ENSP00000418290:K521N;ENSP00000354662:K521N;ENSP00000418442:K521N	ENSP00000353007:K521N	K	-	3	2	SULF2	45734362	0.202000	0.23423	0.789000	0.31954	0.444000	0.32077	0.535000	0.23114	1.124000	0.41980	-0.244000	0.11960	AAA	.		0.597	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		G	46300955	T	G	46300955	3	3	29	1	0	0	0	0	1	0	0	0	15418	1722	60	5	1093	5	SULF2	20	46300955	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10	8923816	46300955	16724565	99	5272											
KCNG1	3755	broad.mit.edu	37	chr20	49626376	49626376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcttctgcaggtagcggCgcttgcagcagccgtccagg	13	13	2	0			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr20:49626376C>A	ENST00000371571.4	-	2	785	c.500G>T	c.(499-501)cGc>cTc	p.R167L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.R167L|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	167					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R167H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGGTAGCGGCGCTTGCAGCA	0.687																																					p.R167L		.											.	KCNG1-515	1	Substitution - Missense(1)	urinary_tract(1)	c.G500T						.						39	40	40					20																	49626376		2203	4295	6498	SO:0001583	missense	3755	exon2			TAGCGGCGCTTGC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.500G>T	20.37:g.49626376C>A	ENSP00000360626:p.Arg167Leu	Somatic	43	1		WXS	Illumina GAIIx	Phase_I	106	12	NM_002237	0	0	0	0	0	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874904	0.91664	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.65	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.87547	2.89	0.53688	D	0.999975	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.96	T	0.75844	-0.3174	9	.	.	.	.	16.5941	0.84791	0.0:0.8696:0.1304:0.0	.	167;167	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	167	ENSP00000360626:R167L;ENSP00000379338:R167L;ENSP00000394075:R167L;ENSP00000394093:R167L	.	R	-	2	0	KCNG1	49059783	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.960000	0.63673	1.362000	0.46000	0.561000	0.74099	CGC	.		0.687	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		A	49626376	C	A	49626376	3	1	29	1	0	0	0	0	1	0	0	0	8054	768	27	2	1049	2	KCNG1	20	49626376	Missense_Mutation	SNP	C	TCGA-OR-A5K8-01A-11D-A29I-10	3325421	49626376	13399144	100	5273											
SEPT5	5413	hgsc.bcm.edu	37	chr22	19702147	19702147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtacaagagcaagctggcGaccccaggtgagcccagcgc	14	14	0	2	rs370608296	byFrequency	TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chr22:19702147G>A	ENST00000455784.2	+	1	161	c.36G>A	c.(34-36)gcG>gcA	p.A12A	SEPT5_ENST00000406395.1_Silent_p.A12A	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	12					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAAGCTGGCGACCCCAGGTG	0.781													G|||	15	0.00299521	8e-04	0.0115	5008	,	,		5050	0		0.006	False		,,,				2504	0				p.A12A		.											.	SEPT5-636	0			c.G36A						.	G		7,2113		0,7,1053	3	5	4		36	0.9	1	22		4	31,3749		1,29,1860	no	coding-synonymous	SEPT5	NM_002688.5		1,36,2913	AA,AG,GG		0.8201,0.3302,0.6441		12/370	19702147	38,5862	1060	1890	2950	SO:0001819	synonymous_variant	5413	exon1			GCTGGCGACCCCA	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.36G>A	22.37:g.19702147G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_002688	0	0	0	0	0	O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	CCDS13764.1																																																																																			.		0.781	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		A	19702147	G	A	19702147	2	1	29	1	0	0	0	0	0	0	0	1	14112	1045	37	1		1	SEPT5	22	19702147	Silent	SNP	G	TCGA-OR-A5K8-01A-11D-A29I-10		19702147	31602419	101	5274											
CDR1	1038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	139865766	139865766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttccagtcaatcagtgTcttccagaaagaaatccagg	8	10	4	2			TCGA-OR-A5K8-01A-11D-A29I-10	TCGA-OR-A5K8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	104c32cd-f89e-4198-9108-033ace38f66b	6def7b38-71db-4a33-a6ca-bd7dda66512e	g.chrX:139865766T>C	ENST00000370532.2	-	1	957	c.766A>G	c.(766-768)Aca>Gca	p.T256A		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	256										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCAATCAGTGTCTTCCAGAAA	0.403																																					p.T256A		.											.	CDR1-130	0			c.A766G						.						89	88	88					X																	139865766		2203	4300	6503	SO:0001583	missense	1038	exon1			TCAGTGTCTTCCA		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.766A>G	X.37:g.139865766T>C	ENSP00000359563:p.Thr256Ala	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	158	147	NM_004065	0	0	0	0	0	Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566720	0.28003	.	.	ENSG00000184258	ENST00000370532	.	.	.	3.25	2.05	0.26809	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	P	0.46512	0.879	B	0.42030	0.373	T	0.06807	-1.0806	7	.	.	.	.	3.5366	0.07796	0.0:0.1379:0.227:0.6351	.	256	P51861	CDR1_HUMAN	A	256	.	.	T	-	1	0	CDR1	139693432	0.020000	0.18652	0.021000	0.16686	0.007000	0.05969	0.008000	0.13197	0.326000	0.23384	-0.465000	0.05216	ACA	.		0.403	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		C	139865766	T	C	139865766	3	2	29	1	0	0	0	0	1	0	0	0	3178	1667	58	4	26	4	CDR1	23	139865766	Missense_Mutation	SNP	T	TCGA-OR-A5K8-01A-11D-A29I-10		139865766	15404794	102	5275											
GNB1	2782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1720546	1720547	+	Missense_Mutation	DNP	CA	CA	AC													gcagttgaagtcgtcgtaccCagcaaggaggaggcgcccgc					rs552501394|rs151315046		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:1720546_1720547CA>AC	ENST00000378609.4	-	10	1192_1193	c.861_862TG>GT	c.(859-864)gcTGgg>gcGTgg	p.G288W		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	288					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TCGTCGTACCCAGCAAGGAGGA	0.569											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G288W		.											.	GNB1-227	0			c.T861G						.																																			SO:0001583	missense	2782	exon10			GTACCCAGCAAGG	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.861_862delinsAC	1.37:g.1720546_1720547delinsAC	ENSP00000367872:p.Gly288Trp	Somatic	197	0	598	WXS	Illumina GAIIx	Phase_I	196	0	NM_002074	0	0	0	0	0	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	DNP	ENST00000378609.4	37	CCDS34.1																																																																																			A|0.999;G|0.001		0.569	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		AC	1720547	CA	AC	1720546	3	1	30	1	0	0	0	0	1	0	0	0	6541	594	21	3	168	3	GNB1	1	1720546	Missense_Mutation	DNP	CA	TCGA-OR-A5K9-01A-11D-A29I-10		1720546	247530075	1	5276											
NOL9	79707	hgsc.bcm.edu	37	chr1	6614391	6614391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccagtccacgccggAcgcctgggcttgcagtaacc	10	18	0	0	rs6693391	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:6614391A>C	ENST00000377705.5	-	1	204	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank|TAS1R1_ENST00000333172.6_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	58			S -> A (in dbSNP:rs6693391). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		TCCACGCCGGACGCCTGGGCT	0.781													C|||	4789	0.95627	0.8722	0.9841	5008	,	,		9026	0.9692		0.995	False		,,,				2504	0.9969				p.S58A		.											.	NOL9-515	0			c.T172G						.	C	ALA/SER	2196,260		975,246,7	2	3	3		172	3	0.2	1	dbSNP_116	3	4875,25		2425,25,0	no	missense	NOL9	NM_024654.4	99	3400,271,7	CC,CA,AA		0.5102,10.5863,3.8744	benign	58/703	6614391	7071,285	1228	2450	3678	SO:0001583	missense	79707	exon1			CGCCGGACGCCTG	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.172T>G	1.37:g.6614391A>C	ENSP00000366934:p.Ser58Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024654	0	0	0	0	0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	2092	0.9578754578754579	421	0.8556910569105691	355	0.9806629834254144	562	0.9825174825174825	754	0.9947229551451188	C	0.416	-0.910621	0.02434	0.894137	0.994898	ENSG00000162408	ENST00000377705	T	0.15718	2.4	4.0	3.05	0.35203	.	0.361559	0.20066	N	0.099972	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.02654	T	1	-12.1681	8.8998	0.35487	0.424:0.576:0.0:0.0	rs6693391;rs56691058	58	Q5SY16	NOL9_HUMAN	A	58	ENSP00000366934:S58A	ENSP00000366934:S58A	S	-	1	0	NOL9	6536978	0.795000	0.28851	0.220000	0.23810	0.044000	0.14063	0.592000	0.23984	0.422000	0.26005	-0.285000	0.09966	TCC	A|0.047;C|0.953		0.781	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		C	6614391	A	C	6614391	3	2	30	1	0	0	0	0	1	0	0	0	10567	275	10	5	1984	5	NOL9	1	6614391	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	4893845	6614391	242636230	2	5277											
PINK1	65018	hgsc.bcm.edu	37	chr1	20960230	20960230	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtcgggctcgggctCcctaaccgtctccgcttctt	12	16	2	0	rs45540544|rs45630563|rs45530340	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:20960230C>T	ENST00000321556.4	+	1	283	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	63					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCGGGCTCCCTAACCGTC	0.791													C|||	644	0.128594	0.053	0.1571	5008	,	,		6081	0.127		0.1938	False		,,,				2504	0.1452				p.L63L	Esophageal Squamous(145;853 1803 8146 34412 35011)	.											.	PINK1-380	0			c.C189T						.	C		165,3267		4,157,1555	3	4	3		189	0.4	0.9	1	dbSNP_127	3	1114,5976		93,928,2524	no	coding-synonymous	PINK1	NM_032409.2		97,1085,4079	TT,TC,CC		15.7123,4.8077,12.1555		63/582	20960230	1279,9243	1716	3545	5261	SO:0001819	synonymous_variant	65018	exon1			CGGGCTCCCTAAC	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.189C>T	1.37:g.20960230C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_032409	0	0	0	2	2	Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	CCDS211.1																																																																																			C|0.868;T|0.132		0.791	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		T	20960230	C	T	20960230	2	4	30	1	0	0	0	0	0	0	0	1	11971	842	30	3		3	PINK1	1	20960230	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	14345839	20960230	228290391	3	5278											
C1QC	714	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	22973845	22973845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggggtgcccggccccatgGgcatccctggagagccaggt	16	14	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:22973845G>C	ENST00000374639.3	+	3	425	c.307G>C	c.(307-309)Ggc>Cgc	p.G103R	C1QC_ENST00000374637.1_Missense_Mutation_p.G103R|C1QC_ENST00000374640.4_Missense_Mutation_p.G103R	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	103	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGGCCCCATGGGCATCCCTGG	0.637																																					p.G103R	Ovarian(26;671 750 8290 29071 43278)	.											.	C1QC-90	0			c.G307C						.						49	55	53					1																	22973845		2203	4300	6503	SO:0001583	missense	714	exon3			CCCATGGGCATCC	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.307G>C	1.37:g.22973845G>C	ENSP00000363770:p.Gly103Arg	Somatic	45	1		WXS	Illumina GAIIx	Phase_I	52	5	NM_001114101	1	0	41	42	0	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089682	0.55968	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.99488	-6.0;-6.0;-6.0	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97181	0.9851	10	0.66056	D	0.02	.	16.7212	0.85410	0.0:0.0:1.0:0.0	.	103	P02747	C1QC_HUMAN	R	103	ENSP00000363771:G103R;ENSP00000363770:G103R;ENSP00000363768:G103R	ENSP00000363768:G103R	G	+	1	0	C1QC	22846432	1.000000	0.71417	0.078000	0.20375	0.064000	0.16182	6.699000	0.74613	2.280000	0.76307	0.561000	0.74099	GGC	.		0.637	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		C	22973845	G	C	22973845	3	2	30	1	0	0	0	0	1	0	0	0	1964	1232	43	3	313	3	C1QC	1	22973845	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	2013615	22973845	226276776	4	5279											
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34099087	34099087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccgtcgtgaacctccAccacgtcgttgagggccgtg	14	13	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:34099087A>G	ENST00000373380.1	-	11	1974	c.1754T>C	c.(1753-1755)gTg>gCg	p.V585A	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.V1712A			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1672	CUB 4. {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)				GTGAACCTCCACCACGTCGTT	0.647											OREG0013348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V1672A		.											.	CSMD2-103	0			c.T5015C						.						42	29	33					1																	34099087		2161	4233	6394	SO:0001583	missense	114784	exon32			ACCTCCACCACGT	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1754T>C	1.37:g.34099087A>G	ENSP00000362478:p.Val585Ala	Somatic	153	0	845	WXS	Illumina GAIIx	Phase_I	180	76	NM_052896	0	0	0	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	A	16.39	3.109588	0.56398	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.27104	1.69;1.69	5.47	5.47	0.80525	CUB (5);	0.074945	0.53938	D	0.000059	T	0.45256	0.1333	M	0.86953	2.85	0.80722	D	1	P;B;B	0.36144	0.539;0.153;0.002	P;B;B	0.46299	0.511;0.086;0.052	T	0.41963	-0.9479	10	0.24483	T	0.36	.	14.7289	0.69365	1.0:0.0:0.0:0.0	.	585;1672;1712	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	A	1712;585	ENSP00000362479:V1712A;ENSP00000362478:V585A	ENSP00000241312:V1672A	V	-	2	0	CSMD2	33871674	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.061000	0.61500	0.460000	0.39030	GTG	.		0.647	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		G	34099087	A	G	34099087	3	3	30	1	0	0	0	0	1	0	0	0	3954	159	6	4	5600	4	CSMD2	1	34099087	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	11125242	34099087	215151534	5	5280											
KIF2C	11004	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	45227628	45227628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagctcctgtgaatataCtttaaacaccctgagatatg	6	9	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:45227628C>T	ENST00000372224.4	+	17	1837	c.1724C>T	c.(1723-1725)aCt>aTt	p.T575I	KIF2C_ENST00000372222.3_Missense_Mutation_p.T462I|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372217.1_Missense_Mutation_p.T521I|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.T534I	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	575	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGTGAATATACTTTAAACACC	0.512																																					p.T575I		.											.	KIF2C-228	0			c.C1724T						.						144	131	136					1																	45227628		2203	4300	6503	SO:0001583	missense	11004	exon17			AATATACTTTAAA	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1724C>T	1.37:g.45227628C>T	ENSP00000361298:p.Thr575Ile	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	153	61	NM_006845	0	0	2	8	6	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.169350|5.169350	0.94768|0.94768	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000423289|ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.|T;T;T;T	.|0.37058	.|1.22;1.22;1.22;1.22	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Kinesin, motor domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75421|0.75421	0.3847|0.3847	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.998	.|D;D;D	.|0.75484	.|0.976;0.975;0.986	D|D	0.84295|0.84295	0.0502|0.0502	5|10	.|0.87932	.|D	.|0	.|.	19.7926|19.7926	0.96466|0.96466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|534;521;575	.|B7Z6Q6;Q99661-2;Q99661	.|.;.;KIF2C_HUMAN	F|I	53|575;534;462;521	.|ENSP00000361298:T575I;ENSP00000361292:T534I;ENSP00000361296:T462I;ENSP00000361291:T521I	.|ENSP00000361291:T521I	L|T	+|+	1|2	0|0	KIF2C|KIF2C	45000215|45000215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.758000|7.758000	0.85224|0.85224	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	CTT|ACT	.		0.512	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		T	45227628	C	T	45227628	3	4	30	1	0	0	0	0	1	0	0	0	8326	565	20	3	1790	3	KIF2C	1	45227628	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	11128541	45227628	204022993	6	5281											
TCTEX1D4	343521	hgsc.bcm.edu	37	chr1	45271828	45271828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcaccacactgcaTaccagcttgtagcgtggcgg	12	15	0	0	rs17885815	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V|BTBD19_ENST00000450269.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6	9	8		513	5.5	1	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001013632	0	0	0	0	0		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		C	45271828	T	C	45271828	2	2	30	1	0	0	0	0	0	0	0	1	15768	1393	49	4		4	TCTEX1D4	1	45271828	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	44200	45271828	203978793	7	5282											
CYP4A22	284541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	47611785	47611785	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttgcaccgggttctgctCaacacagccacgctttcctg	9	14	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:47611785C>A	ENST00000371891.3	+	11	1355	c.1324C>A	c.(1324-1326)Caa>Aaa	p.Q442K	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.Q344K|CYP4A22_ENST00000294337.3_Missense_Mutation_p.Q442K|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	442						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGTTCTGCTCAACACAGCCA	0.537																																					p.Q442K	Pancreas(88;1240 1470 2099 14214 37557)	.											.	CYP4A22-139	0			c.C1324A						.						301	288	292					1																	47611785		2203	4300	6503	SO:0001583	missense	284541	exon11			TCTGCTCAACACA		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.1324C>A	1.37:g.47611785C>A	ENSP00000360958:p.Gln442Lys	Somatic	270	0		WXS	Illumina GAIIx	Phase_I	286	36	NM_001010969	0	0	0	0	0	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.755271	0.31046	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.65732	-0.17;-0.17;-0.17	1.59	1.59	0.23543	.	0.351880	0.31051	N	0.008353	T	0.40932	0.1137	N	0.04132	-0.27	0.09310	N	1	B;B	0.32467	0.144;0.372	B;B	0.40009	0.316;0.152	T	0.43294	-0.9400	10	0.87932	D	0	.	8.0539	0.30593	0.0:0.7454:0.2545:0.0	.	344;442	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	K	344;442;442	ENSP00000360957:Q344K;ENSP00000360958:Q442K;ENSP00000294337:Q442K	ENSP00000294337:Q442K	Q	+	1	0	CYP4A22	47384372	0.000000	0.05858	0.009000	0.14445	0.694000	0.40290	-0.332000	0.07904	1.190000	0.43042	0.194000	0.17425	CAA	.		0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		A	47611785	C	A	47611785	3	1	30	1	0	0	0	0	1	0	0	0	4193	827	29	3	1366	3	CYP4A22	1	47611785	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2339957	47611785	201638836	8	5283											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	15	NM_018364	0	0	0	1	1	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	30	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	66742869	114354654	134895967	9	5284											
HMGCS2	3158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	120295286	120295286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgtgctggacaccaacttgtCcaggggagagcctgggaagc	15	10	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:120295286C>G	ENST00000369406.3	-	8	1355	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.D394H|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	436					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)		ACCAACTTGTCCAGGGGAGAG	0.473																																					p.D436H		.											.	HMGCS2-92	0			c.G1306C						.						117	118	118					1																	120295286		2203	4300	6503	SO:0001583	missense	3158	exon8			ACTTGTCCAGGGG	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.1306G>C	1.37:g.120295286C>G	ENSP00000358414:p.Asp436His	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	178	24	NM_005518	0	0	0	0	0	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.78246	-1.16;-1.16	5.61	5.61	0.85477	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.669267	0.14762	N	0.299918	T	0.63628	0.2527	L	0.35854	1.095	0.53005	D	0.999968	B;B	0.14012	0.003;0.009	B;B	0.17722	0.015;0.019	T	0.57625	-0.7779	10	0.49607	T	0.09	-7.4619	18.572	0.91138	0.0:1.0:0.0:0.0	.	394;436	B7Z8R3;P54868	.;HMCS2_HUMAN	H	436;394	ENSP00000358414:D436H;ENSP00000439495:D394H	ENSP00000358414:D436H	D	-	1	0	HMGCS2	120096809	1.000000	0.71417	0.993000	0.49108	0.615000	0.37417	6.810000	0.75216	2.791000	0.96007	0.655000	0.94253	GAC	.		0.473	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		G	120295286	C	G	120295286	3	3	30	1	0	0	0	0	1	0	0	0	7260	855	30	3	228	3	HMGCS2	1	120295286	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	5940632	120295286	128955335	10	5285											
THEM4	117145	hgsc.bcm.edu	37	chr1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcctactggcggcAggcacagagcccccagcgtg	16	16	0	1	rs3748805	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1	1	1					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_053055	0	0	0	7	7	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		C	151881885	A	C	151881885	3	2	30	1	0	0	0	0	1	0	0	0	15905	188	7	5	696	5	THEM4	1	151881885	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	31586599	151881885	97368736	11	5286											
LOR	4014	hgsc.bcm.edu	37	chr1	153233578	153233578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcggttctggctgCggctactccggcggcggtgg	19	11	1	0	rs1143389	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:153233578C>T	ENST00000368742.3	+	2	210	c.153C>T	c.(151-153)tgC>tgT	p.C51C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	51					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gttctggctgcggctactccg	0.796													C|||	1003	0.20028	0.034	0.147	5008	,	,		4886	0.3194		0.1412	False		,,,				2504	0.4008				p.C51C		.											.	LOR-90	0			c.C153T						.	C		83,2085		3,77,1004	2	2	2		153	-7.2	0	1	dbSNP_86	2	743,3969		44,655,1657	no	coding-synonymous	LOR	NM_000427.2		47,732,2661	TT,TC,CC		15.7683,3.8284,12.0058		51/313	153233578	826,6054	1084	2356	3440	SO:0001819	synonymous_variant	4014	exon2			TGGCTGCGGCTAC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.153C>T	1.37:g.153233578C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			C|0.818;T|0.182		0.796	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		T	153233578	C	T	153233578	2	4	30	1	0	0	0	0	0	0	0	1	8932	776	27	1		1	LOR	1	153233578	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1351693	153233578	96017043	12	5287											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	30	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	123	153233701	96016920	13	5288											
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842252	154842252	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgaagctgcggAggctgaggctgcagcgaggg	19	9	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:154842252A>C	ENST00000271915.4	-	1	504	c.189T>G	c.(187-189)ccT>ccG	p.P63P	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)	gaagctgcggaggctgaggct	0.697																																					p.P63P		.											.	KCNN3-91	0			c.T189G						.						6	4	5					1																	154842252		1986	3918	5904	SO:0001819	synonymous_variant	3782	exon1			CTGCGGAGGCTGA	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.189T>G	1.37:g.154842252A>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	64	7	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		C	154842252	A	C	154842252	2	2	30	1	0	0	0	0	0	0	0	1	8107	291	11	5		5	KCNN3	1	154842252	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1608551	154842252	94408369	14	5289											
HCN3	57657	broad.mit.edu	37	chr1	155257913	155257913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccgctggtgcccgtccgaGctggcccatgggcatccacc	12	19	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:155257913G>T	ENST00000368358.3	+	8	1992	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	662					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGTCCGAGCTGGCCCATG	0.726																																					p.A662S		.											.	HCN3-154	0			c.G1984T						.						15	15	15					1																	155257913		2199	4293	6492	SO:0001583	missense	57657	exon8			GTCCGAGCTGGCC	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1984G>T	1.37:g.155257913G>T	ENSP00000357342:p.Ala662Ser	Somatic	23	1		WXS	Illumina GAIIx	Phase_I	114	8	NM_020897	0	0	4	4	0	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221072	0.39201	.	.	ENSG00000143630	ENST00000368358	D	0.98075	-4.7	4.91	4.91	0.64330	.	0.272209	0.26143	N	0.026085	D	0.88130	0.6354	N	0.24115	0.695	0.26172	N	0.979844	B;B	0.15473	0.002;0.013	B;B	0.08055	0.001;0.003	T	0.72283	-0.4339	10	0.05525	T	0.97	.	13.7751	0.63048	0.0:0.0:1.0:0.0	.	357;662	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	S	662	ENSP00000357342:A662S	ENSP00000357342:A662S	A	+	1	0	HCN3	153524537	0.991000	0.36638	0.998000	0.56505	0.814000	0.46013	2.484000	0.45242	2.708000	0.92522	0.557000	0.71058	GCT	.		0.726	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		T	155257913	G	T	155257913	3	4	30	1	0	0	0	0	1	0	0	0	7025	971	34	3	2014	3	HCN3	1	155257913	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	415661	155257913	93992708	15	5290											
CCT3	7203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156303393	156303393	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcctgggtccggctAatttcgatcatggacttggc	10	11	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:156303393A>T	ENST00000295688.3	-	5	529	c.249T>A	c.(247-249)atT>atA	p.I83I	CCT3_ENST00000368261.3_Silent_p.I38I|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Silent_p.I45I|CCT3_ENST00000472765.2_Silent_p.I38I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	83					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGGTCCGGCTAATTTCGATCA	0.413																																					p.I83I		.											.	CCT3-92	0			c.T249A						.						132	133	132					1																	156303393		2203	4300	6503	SO:0001819	synonymous_variant	7203	exon5			CCGGCTAATTTCG	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.249T>A	1.37:g.156303393A>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	85	26	NM_005998	0	1	338	433	94	A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	CCDS1140.2																																																																																			.		0.413	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		T	156303393	A	T	156303393	2	4	30	1	0	0	0	0	0	0	0	1	2961	358	13	5		5	CCT3	1	156303393	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1045480	156303393	92947228	16	5291											
OLFML2B	25903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161954657	161954657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtagtaatagttggttaCgtaaatccgctcatccttgg	10	9	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:161954657C>T	ENST00000294794.3	-	7	2011	c.1588G>A	c.(1588-1590)Gta>Ata	p.V530I	OLFML2B_ENST00000367938.1_Missense_Mutation_p.V13I|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V531I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	530	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.V530I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TAGTTGGTTACGTAAATCCGC	0.532																																					p.V530I		.											.	OLFML2B-69	1	Substitution - Missense(1)	large_intestine(1)	c.G1588A						.						273	248	256					1																	161954657		2203	4300	6503	SO:0001583	missense	25903	exon7			TGGTTACGTAAAT	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1588G>A	1.37:g.161954657C>T	ENSP00000294794:p.Val530Ile	Somatic	298	0		WXS	Illumina GAIIx	Phase_I	394	88	NM_015441	0	0	3	3	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869681	0.91587	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91792	-2.91;-2.91;-2.91	4.31	4.31	0.51392	Olfactomedin-like (3);	.	.	.	.	D	0.93245	0.7848	M	0.71581	2.175	0.39480	D	0.967866	D;P	0.59767	0.986;0.891	P;P	0.59012	0.85;0.466	D	0.93426	0.6781	8	0.51188	T	0.08	.	14.3441	0.66649	0.0:1.0:0.0:0.0	.	531;530	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	I	530;531;13	ENSP00000294794:V530I;ENSP00000356917:V531I;ENSP00000356915:V13I	ENSP00000294794:V530I	V	-	1	0	OLFML2B	160221281	1.000000	0.71417	0.679000	0.29978	0.979000	0.70002	7.510000	0.81708	2.232000	0.73038	0.561000	0.74099	GTA	.		0.532	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		T	161954657	C	T	161954657	3	4	30	1	0	0	0	0	1	0	0	0	10897	536	19	1	672	1	OLFML2B	1	161954657	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	5651264	161954657	87295964	17	5292											
SELL	6402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	169672445	169672445	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attccagatgattcacaaatGgttttcttcttcccaattaa	4	9	3	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:169672445G>C	ENST00000236147.4	-	6	1102	c.942C>G	c.(940-942)acC>acG	p.T314T	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	301	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATTCACAAATGGTTTTCTTCT	0.428																																					p.T314T		.											.	SELL-90	0			c.C942G						.						99	90	93					1																	169672445		1895	4122	6017	SO:0001819	synonymous_variant	6402	exon6			ACAAATGGTTTTC	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.942C>G	1.37:g.169672445G>C		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	269	61	NM_000655	0	0	0	0	0	B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	CCDS53427.1																																																																																			.		0.428	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		C	169672445	G	C	169672445	2	2	30	1	0	0	0	0	0	0	0	1	14061	1335	47	3		3	SELL	1	169672445	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7717788	169672445	79578176	18	5293											
FAM163A	148753	broad.mit.edu	37	chr1	179783093	179783094	+	Frame_Shift_Ins	INS	-	-	G													gccagccctgtggggtggccINSgcgagccactgcactacctg							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:179783093_179783094insG	ENST00000341785.4	+	5	669_670	c.273_274insG	c.(274-276)gcgfs	p.A92fs	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	92						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GTGGGGTGGCCGCGAGCCACTG	0.668																																					p.A91fs		.											.	FAM163A-91	0			c.273_274insG						.																																			SO:0001589	frameshift_variant	148753	exon5			GGTGGCCGCGAGC	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.274dupG	1.37:g.179783094_179783094dupG	ENSP00000354891:p.Ala92fs	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	279	12	NM_173509	0	0	0	0	0	A8K8R7	Frame_Shift_Ins	INS	ENST00000341785.4	37	CCDS1333.1																																																																																			.		0.668	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		G	179783094	-	G	179783093	7	5	30	1	0	1	1	0	0	0	0	0	5495	639	23	0	279	0	FAM163A	1	179783093	Frame_Shift_Ins	INS	-	TCGA-OR-A5K9-01A-11D-A29I-10	10110648	179783093	69467528	19	5294											
CEP350	9857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	179983496	179983496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagagctctaccggaagcaGaaggaagcctttactaaagt	10	9	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:179983496G>C	ENST00000367607.3	+	10	2326	c.1908G>C	c.(1906-1908)caG>caC	p.Q636H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	636					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						ACCGGAAGCAGAAGGAAGCCT	0.423																																					p.Q636H		.											.	CEP350-26	0			c.G1908C						.						60	57	58					1																	179983496		2203	4299	6502	SO:0001583	missense	9857	exon10			GAAGCAGAAGGAA	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.1908G>C	1.37:g.179983496G>C	ENSP00000356579:p.Gln636His	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	228	49	NM_014810	0	0	3	4	1	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461700	0.63513	.	.	ENSG00000135837	ENST00000367607	D	0.90620	-2.7	5.44	4.53	0.55603	.	0.000000	0.46442	D	0.000282	D	0.91399	0.7286	L	0.34521	1.04	0.46874	D	0.999232	D;D	0.71674	0.996;0.998	D;D	0.79108	0.976;0.992	D	0.90106	0.4188	9	.	.	.	.	11.9356	0.52872	0.1454:0.0:0.8546:0.0	.	636;636	E7EU22;Q5VT06	.;CE350_HUMAN	H	636	ENSP00000356579:Q636H	.	Q	+	3	2	CEP350	178250119	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.444000	0.52914	1.435000	0.47434	0.650000	0.86243	CAG	.		0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		C	179983496	G	C	179983496	3	2	30	1	0	0	0	0	1	0	0	0	3261	933	33	3	1942	3	CEP350	1	179983496	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	200403	179983496	69267125	20	5295											
PTGS2	5743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186646810	186646810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgttggtgaaagctgGccctcgcttatgatctgtct	11	12	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:186646810G>A	ENST00000367468.5	-	5	746	c.610C>T	c.(610-612)Cca>Tca	p.P204S	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	204					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GTGAAAGCTGGCCCTCGCTTA	0.428																																					p.P204S		.											.	PTGS2-227	0			c.C610T						.						107	113	111					1																	186646810		2203	4300	6503	SO:0001583	missense	5743	exon5			AAGCTGGCCCTCG	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.610C>T	1.37:g.186646810G>A	ENSP00000356438:p.Pro204Ser	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	189	59	NM_000963	0	0	0	0	0	A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582673	0.65992	.	.	ENSG00000073756	ENST00000367468	T	0.71103	-0.54	5.8	5.8	0.92144	.	0.048742	0.85682	D	0.000000	D	0.84786	0.5549	M	0.85945	2.785	0.80722	D	1	D;B	0.71674	0.998;0.305	D;B	0.66979	0.948;0.111	D	0.86205	0.1621	10	0.59425	D	0.04	-14.5745	15.5204	0.75862	0.0:0.1376:0.8624:0.0	.	204;204	Q8IZA9;P35354	.;PGH2_HUMAN	S	204	ENSP00000356438:P204S	ENSP00000356438:P204S	P	-	1	0	PTGS2	184913433	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.323000	0.72891	2.735000	0.93741	0.557000	0.71058	CCA	.		0.428	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		A	186646810	G	A	186646810	3	1	30	1	0	0	0	0	1	0	0	0	12799	1203	42	3	1228	3	PTGS2	1	186646810	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	6663314	186646810	62603811	21	5296											
PTPRC	5788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	198711467	198711467	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttatgttgtcaagctaaggCgacagagatgcctgatggtt	13	6	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:198711467C>A	ENST00000367376.2	+	25	2833	c.2662C>A	c.(2662-2664)Cga>Aga	p.R888R	PTPRC_ENST00000442510.2_Silent_p.R890R|PTPRC_ENST00000594404.1_Silent_p.R727R|PTPRC_ENST00000352140.3_Silent_p.R840R|PTPRC_ENST00000348564.6_Silent_p.R729R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	888	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						CAAGCTAAGGCGACAGAGATG	0.408																																					p.R890R		.											.	PTPRC-295	0			c.C2668A						.						224	214	218					1																	198711467		2203	4300	6503	SO:0001819	synonymous_variant	5788	exon25			CTAAGGCGACAGA	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.2662C>A	1.37:g.198711467C>A		Somatic	232	0		WXS	Illumina GAIIx	Phase_I	351	76	NM_002838	0	0	0	0	0	A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37																																																																																				.		0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	198711467	C	A	198711467	2	1	30	1	0	0	0	0	0	0	0	1	12842	760	27	2		2	PTPRC	1	198711467	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	12064657	198711467	50539154	22	5297											
TRAF3IP3	80342	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	209948701	209948701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcaaatttacagaaatactCcccttggggaatgaaaaaag	7	7	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:209948701C>A	ENST00000367024.1	+	10	1298	c.782C>A	c.(781-783)tCc>tAc	p.S261Y	TRAF3IP3_ENST00000367023.1_5'UTR|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.S241Y|TRAF3IP3_ENST00000477431.1_5'UTR|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.S241Y|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.S241Y|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.S261Y			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	261						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGAAATACTCCCCTTGGGGA	0.418																																					p.S261Y		.											.	TRAF3IP3-291	0			c.C782A						.						41	42	42					1																	209948701		2203	4300	6503	SO:0001583	missense	80342	exon10			AATACTCCCCTTG		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.782C>A	1.37:g.209948701C>A	ENSP00000355991:p.Ser261Tyr	Somatic	210	2		WXS	Illumina GAIIx	Phase_I	334	88	NM_025228	0	0	0	0	0	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123315	0.56613	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.3	5.3	0.74995	.	0.167962	0.39834	N	0.001253	D	0.85414	0.5691	M	0.69823	2.125	0.44221	D	0.997055	P;P;P;D	0.59357	0.631;0.919;0.631;0.985	B;P;B;P	0.57468	0.274;0.525;0.392;0.821	D	0.87087	0.2170	10	0.72032	D	0.01	-1.8116	17.5482	0.87869	0.0:1.0:0.0:0.0	.	261;241;261;241	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Y	241;261;244;241;261;241	ENSP00000383743:S241Y;ENSP00000355992:S261Y;ENSP00000355993:S241Y;ENSP00000355991:S261Y;ENSP00000010338:S241Y	ENSP00000010338:S241Y	S	+	2	0	TRAF3IP3	208015324	0.988000	0.35896	1.000000	0.80357	0.977000	0.68977	4.502000	0.60400	2.477000	0.83638	0.563000	0.77884	TCC	.		0.418	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			A	209948701	C	A	209948701	3	1	30	1	0	0	0	0	1	0	0	0	16490	855	30	3	812	3	TRAF3IP3	1	209948701	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	11237234	209948701	39301920	23	5298											
DTL	51514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	212245552	212245552	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaagctgcctacatatgGaaggtaagttgctaaacttc	10	7	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:212245552G>A	ENST00000366991.4	+	11	1346	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Nonsense_Mutation_p.W302*	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	344					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)		CCTACATATGGAAGGTAAGTT	0.388																																					p.W344X		.											.	DTL-22	0			c.G1032A						.						125	115	118					1																	212245552		2203	4300	6503	SO:0001587	stop_gained	51514	exon11			CATATGGAAGGTA	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.1032G>A	1.37:g.212245552G>A	ENSP00000355958:p.Trp344*	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	173	46	NM_016448	0	0	0	0	0	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Nonsense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	40	8.084420	0.98646	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.0306	18.0796	0.89438	0.0:0.0:1.0:0.0	.	.	.	.	X	344;302	.	ENSP00000355958:W344X	W	+	3	0	DTL	210312175	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.592000	0.90828	2.629000	0.89072	0.557000	0.71058	TGG	.		0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		A	212245552	G	A	212245552	4	1	30	1	0	0	0	0	0	1	0	0	4801	1183	41	3	1074	3	DTL	1	212245552	Nonsense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	2296851	212245552	37005069	24	5299											
EPRS	2058	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	220219731	220219731	+	5'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcagagagagcgtcgccatCtccaccagtccgctggtcca	11	15	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:220219731C>A	ENST00000366923.3	-	0	269					NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase						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)	GCGTCGCCATCTCCACCAGTC	0.612																																					.		.											.	EPRS-92	0			.						.						98	74	82					1																	220219731		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2058	.			CGCCATCTCCACC	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.-1G>T	1.37:g.220219731C>A		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	300	74	.	0	0	9	14	5	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	RNA	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																			.		0.612	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		A	220219731	C	A	220219731	1	1	30	0	1	0	0	0	0	0	0	0	5207	928	32	3		3	EPRS	1	220219731	5'UTR	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7974179	220219731	29030890	25	5300											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	20	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	30	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	8284939	228504670	20745951	26	5301											
OR2T33	391195	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	248437020	248437020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacagggaggtcaaaaCgatactcagaaccatcatga	9	10	3	2	rs138653777		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr1:248437020C>T	ENST00000318021.2	-	1	118	c.97G>A	c.(97-99)Gtt>Att	p.V33I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V33I(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)			GAGGTCAAAACGATACTCAGA	0.478																																					p.V33I		.											.	OR2T33-114	1	Substitution - Missense(1)	prostate(1)	c.G97A						.	C	ILE/VAL	0,4396		0,0,2198	43	44	44		97	-3	0	1	dbSNP_134	44	1,8591		0,1,4295	no	missense	OR2T33	NM_001004695.1	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	33/321	248437020	1,12987	2198	4296	6494	SO:0001583	missense	391195	exon1			TCAAAACGATACT		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.97G>A	1.37:g.248437020C>T	ENSP00000324687:p.Val33Ile	Somatic	633	2		WXS	Illumina GAIIx	Phase_I	1014	374	NM_001004695	0	0	0	0	0	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.64	1.408033	0.25378	0.0	1.16E-4	ENSG00000177212	ENST00000318021	T	0.02974	4.09	2.7	-2.99	0.05497	.	1.089080	0.07304	U	0.874565	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	P	0.34909	0.475	B	0.26416	0.069	T	0.44997	-0.9291	10	0.87932	D	0	.	4.1255	0.10125	0.5365:0.2124:0.0:0.2511	.	33	Q8NG76	O2T33_HUMAN	I	33	ENSP00000324687:V33I	ENSP00000324687:V33I	V	-	1	0	OR2T33	246503643	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	1.406000	0.34646	-0.368000	0.08040	0.494000	0.49563	GTT	C|1.000;T|0.000		0.478	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248437020	C	T	248437020	3	4	30	1	0	0	0	0	1	0	0	0	11063	536	19	1	868	1	OR2T33	1	248437020	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	19932350	248437020	813601	27	5302											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	30	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		1481231	241718142	28	5303											
MYT1L	23040	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	1946895	1946895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccccctcctcgtcctcctCgtcctcatcccctggctcat	5	22	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:1946895C>T	ENST00000399161.2	-	9	1111	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E122K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	122	Asp/Glu-rich.				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)		tcgtcctcctcgtcctcatcc	0.577																																					p.E122K		.											.	MYT1L-95	0			c.G364A						.						87	87	87					2																	1946895		2097	4091	6188	SO:0001583	missense	23040	exon9			CCTCCTCGTCCTC	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.364G>A	2.37:g.1946895C>T	ENSP00000382114:p.Glu122Lys	Somatic	135	2		WXS	Illumina GAIIx	Phase_I	270	168	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	14.17	2.456125	0.43634	.	.	ENSG00000186487	ENST00000399161;ENST00000428368	T;T	0.45668	0.89;0.89	5.37	5.37	0.77165	.	1.042900	0.07673	U	0.935760	T	0.26955	0.0660	N	0.14661	0.345	0.51012	D	0.999907	P;P	0.38370	0.495;0.628	B;B	0.28232	0.04;0.087	T	0.29610	-1.0006	10	0.08599	T	0.76	-8.1461	18.72	0.91689	0.0:1.0:0.0:0.0	.	122;122	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	122	ENSP00000382114:E122K;ENSP00000396103:E122K	ENSP00000382114:E122K	E	-	1	0	MYT1L	1925902	0.998000	0.40836	0.479000	0.27329	0.131000	0.20780	6.378000	0.73150	2.518000	0.84900	0.563000	0.77884	GAG	.		0.577	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1946895	C	T	1946895	3	4	30	1	0	0	0	0	1	0	0	0	10145	893	31	1	3258	1	MYT1L	2	1946895	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	465664	1946895	241252478	29	5304											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	30	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	5058474	7005369	236194004	30	5305											
RRM2	6241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	10263878	10263878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaggtggacctctccaagGacattcagcactgggaatcc	10	13	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:10263878G>A	ENST00000304567.5	+	4	403	c.334G>A	c.(334-336)Gac>Aac	p.D112N	RP11-254F7.4_ENST00000607140.1_lincRNA|RRM2_ENST00000360566.2_Missense_Mutation_p.D172N	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	112					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CCTCTCCAAGGACATTCAGCA	0.428																																					p.D172N		.											.	RRM2-227	0			c.G514A						.						85	91	89					2																	10263878		2203	4300	6503	SO:0001583	missense	6241	exon4			TCCAAGGACATTC		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.334G>A	2.37:g.10263878G>A	ENSP00000302955:p.Asp112Asn	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	77	28	NM_001165931	0	0	67	101	34	B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451894	0.96205	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.99532	-6.1;-6.1;-5.86	5.18	5.18	0.71444	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.99752	4.75	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96170	0.9122	10	0.87932	D	0	-11.1105	18.6964	0.91603	0.0:0.0:1.0:0.0	.	112	P31350	RIR2_HUMAN	N	172;112;62	ENSP00000353770:D172N;ENSP00000302955:D112N;ENSP00000419177:D62N	ENSP00000302955:D112N	D	+	1	0	RRM2	10181329	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.695000	0.98691	2.425000	0.82216	0.561000	0.74099	GAC	.		0.428	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			A	10263878	G	A	10263878	3	1	30	1	0	0	0	0	1	0	0	0	13727	1174	41	3	528	3	RRM2	2	10263878	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	3258509	10263878	232935495	31	5306											
ASXL2	55252	broad.mit.edu	37	chr2	25965360	25965360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaaagctcggggctgctacgGattgccttacctctcactgc	10	13	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:25965360G>C	ENST00000435504.4	-	13	4139	c.3846C>G	c.(3844-3846)atC>atG	p.I1282M	ASXL2_ENST00000336112.4_Missense_Mutation_p.I1254M|ASXL2_ENST00000404843.1_Missense_Mutation_p.I765M|ASXL2_ENST00000272341.4_Missense_Mutation_p.I765M			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1282					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGCTACGGATTGCCTTAC	0.527																																					p.I1282M		.											.	ASXL2-23	0			c.C3846G						.						46	47	46					2																	25965360		1973	4144	6117	SO:0001583	missense	55252	exon12			GCTACGGATTGCC			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3846C>G	2.37:g.25965360G>C	ENSP00000391447:p.Ile1282Met	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	35	3	NM_018263	0	0	1	1	0	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424269	0.01126	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	6.17	0.699	0.18093	.	0.492945	0.25291	N	0.031740	T	0.06508	0.0167	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.30446	-0.9978	10	0.46703	T	0.11	-0.0017	7.2115	0.25937	0.0:0.5321:0.1176:0.3504	.	765;1282	Q76L83-2;Q76L83	.;ASXL2_HUMAN	M	1282;1254;765;765	ENSP00000391447:I1282M;ENSP00000337250:I1254M;ENSP00000383920:I765M;ENSP00000272341:I765M	ENSP00000272341:I765M	I	-	3	3	ASXL2	25818864	0.000000	0.05858	0.001000	0.08648	0.427000	0.31564	0.097000	0.15168	0.173000	0.19788	-0.147000	0.13772	ATC	.		0.527	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25965360	G	C	25965360	3	2	30	1	0	0	0	0	1	0	0	0	1068	1164	41	3	465	3	ASXL2	2	25965360	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	15701482	25965360	217234013	32	5307											
USP39	10713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	85872161	85872161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgccaacatcgtgcatgaCggcaagccctccgagggctc	11	14	0	1	rs145807458		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:85872161C>T	ENST00000323701.6	+	11	1528	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D	USP39_ENST00000409470.1_Silent_p.D506D|USP39_ENST00000409025.1_Silent_p.D506D|USP39_ENST00000409766.3_Intron|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Silent_p.D403D	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	506	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCGTGCATGACGGCAAGCCCT	0.488																																					p.D506D		.											.	USP39-658	0			c.C1518T						.	C		1,4405	2.1+/-5.4	0,1,2202	117	97	104		1518	-4.1	0.8	2	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	USP39	NM_006590.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		506/566	85872161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10713	exon11			GCATGACGGCAAG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1518C>T	2.37:g.85872161C>T		Somatic	198	0		WXS	Illumina GAIIx	Phase_I	318	88	NM_001256725	0	0	54	75	21	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Silent	SNP	ENST00000323701.6	37	CCDS33234.1																																																																																			C|1.000;T|0.000		0.488	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		T	85872161	C	T	85872161	2	4	30	1	0	0	0	0	0	0	0	1	17119	535	19	1		1	USP39	2	85872161	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	59906801	85872161	157327212	33	5308											
CD8B	926	hgsc.bcm.edu	37	chr2	87088964	87088964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagctgcgcggccaAgaggagccacagccgcggcc	14	16	1	1	rs62146888	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	CD8B_ENST00000393761.2_Silent_p.L9L|CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000431506.2_Silent_p.L9L|CD8B_ENST00000393759.2_Silent_p.L9L|AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000331469.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		.											.	CD8B-92	0			c.T25C						.						1	1	1					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87088964	A	G	87088964	2	3	30	1	0	0	0	0	0	0	0	1	3052	69	3	4		4	CD8B	2	87088964	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1216803	87088964	156110409	34	5309											
RANBP2	5903	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	109380404	109380404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatgtttactttccatggtCcagggaaatcagtatttgga	9	6	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:109380404C>T	ENST00000283195.6	+	20	3535	c.3409C>T	c.(3409-3411)Cca>Tca	p.P1137S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1137					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTCCATGGTCCAGGGAAATC	0.428																																					p.P1137S		.											.	RANBP2-675	0			c.C3409T						.						85	86	86					2																	109380404		2203	4299	6502	SO:0001583	missense	5903	exon20			CATGGTCCAGGGA	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.3409C>T	2.37:g.109380404C>T	ENSP00000283195:p.Pro1137Ser	Somatic	195	1		WXS	Illumina GAIIx	Phase_I	219	64	NM_006267	0	0	3	5	2	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.618047	0.14129	.	.	ENSG00000153201	ENST00000283195	T	0.27256	1.68	5.44	2.44	0.29823	.	.	.	.	.	T	0.18215	0.0437	L	0.41236	1.265	0.09310	N	0.999999	B	0.17852	0.024	B	0.13407	0.009	T	0.28808	-1.0032	9	0.19590	T	0.45	-7.0451	6.717	0.23308	0.0:0.5747:0.2781:0.1471	.	1137	P49792	RBP2_HUMAN	S	1137	ENSP00000283195:P1137S	ENSP00000283195:P1137S	P	+	1	0	RANBP2	108746836	0.266000	0.24112	0.997000	0.53966	0.194000	0.23727	0.309000	0.19332	0.633000	0.30452	0.557000	0.71058	CCA	.		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		T	109380404	C	T	109380404	3	4	30	1	0	0	0	0	1	0	0	0	13073	855	30	3	3487	3	RANBP2	2	109380404	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	22291440	109380404	133818969	35	5310											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_023016	0	0	0	1	1	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	30	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	991788	110372192	132827181	36	5311											
SMPD4	55627	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	130911319	130911319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagggccttctccaggtattCatctgtcttccggacactgt	9	13	4	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:130911319C>T	ENST00000409031.1	-	17	3114	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	SMPD4_ENST00000443958.2_Missense_Mutation_p.E320K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E627K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E514K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E405K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E554K|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000426662.2_Missense_Mutation_p.E292K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E397K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	617					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TCCAGGTATTCATCTGTCTTC	0.592																																					p.E656K		.											.	SMPD4-90	0			c.G1966A						.						22	26	25					2																	130911319		2177	4264	6441	SO:0001583	missense	55627	exon17			GGTATTCATCTGT	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1966G>A	2.37:g.130911319C>T	ENSP00000386531:p.Glu656Lys	Somatic	424	1		WXS	Illumina GAIIx	Phase_I	478	104	NM_017951	0	0	42	57	15	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.24|15.24	2.775956|2.775956	0.49786|0.49786	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159|ENST00000439886	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	0.052751|.	0.64402|.	D|.	0.000001|.	T|T	0.69079|0.69079	0.3071|0.3071	L|L	0.61036|0.61036	1.89|1.89	0.53005|0.53005	D|D	0.999963|0.999963	B;B;B;B;D;B;B;P;P;B|.	0.67145|.	0.313;0.045;0.08;0.08;0.996;0.05;0.097;0.918;0.587;0.095|.	B;B;B;B;D;B;B;P;B;B|.	0.75484|.	0.156;0.039;0.045;0.045;0.986;0.02;0.061;0.638;0.225;0.058|.	T|T	0.68996|0.68996	-0.5262|-0.5262	9|5	0.41790|.	T|.	0.15|.	.|.	13.4569|13.4569	0.61204|0.61204	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	292;397;554;514;405;588;617;656;663;188|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	K|I	627;656;554;405;320;514;397;292;253;166|530	.|.	ENSP00000339721:E514K|.	E|M	-|-	1|3	0|0	SMPD4|SMPD4	130627789|130627789	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.447000|0.447000	0.32167|0.32167	7.215000|7.215000	0.77966|0.77966	1.714000|1.714000	0.51371|0.51371	0.549000|0.549000	0.68633|0.68633	GAA|ATG	.		0.592	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		T	130911319	C	T	130911319	3	4	30	1	0	0	0	0	1	0	0	0	14852	835	29	3	650	3	SMPD4	2	130911319	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	20539127	130911319	112288054	37	5312											
FAM128A	653784	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	132241688	132241688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccccttgggcagcctGgtagcgctgggctggcgtgg	17	15	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:132241688G>A	ENST00000309451.6	-	3	468	c.423C>T	c.(421-423)acC>acT	p.T141T	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	141						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						TGGGCAGCCTGGTAGCGCTGG	0.652																																					p.T141T		.											.	MZT2A-68	0			c.C423T						.						51	63	59					2																	132241688		2196	4296	6492	SO:0001819	synonymous_variant	653784	exon3			CAGCCTGGTAGCG	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.423C>T	2.37:g.132241688G>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	333	25	NM_001085365	0	1	653	668	14	Q3SWV8|Q8WVB2	Silent	SNP	ENST00000309451.6	37	CCDS42758.1																																																																																			.		0.652	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			A	132241688	G	A	132241688	2	1	30	1	0	0	0	0	0	0	0	1	5453	1335	47	3		3	FAM128A	2	132241688	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1330369	132241688	110957685	38	5313											
NR4A2	4929	ucsc.edu;bcgsc.ca	37	chr2	157182673	157182673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtactgacctgtgaccataGccagggcagcaatgcaggag	13	10	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:157182673G>C	ENST00000339562.4	-	7	1891	c.1529C>G	c.(1528-1530)gCt>gGt	p.A510G	NR4A2_ENST00000409108.2_Silent_p.G475G|NR4A2_ENST00000426264.1_Missense_Mutation_p.A447G|NR4A2_ENST00000539077.1_Missense_Mutation_p.A521G|NR4A2_ENST00000429376.1_Silent_p.G412G|NR4A2_ENST00000409572.1_Missense_Mutation_p.A510G	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	510					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTGACCATAGCCAGGGCAGC	0.507																																					p.A510G		.											.	NR4A2-189	0			c.C1529G						.						61	52	55					2																	157182673		2203	4300	6503	SO:0001583	missense	4929	exon7			ACCATAGCCAGGG	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1529C>G	2.37:g.157182673G>C	ENSP00000344479:p.Ala510Gly	Somatic	135	2		WXS	Illumina GAIIx	Phase_I	205	121	NM_006186	0	0	0	0	0	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373876	0.42105	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	N	0.24115	0.695	0.80722	D	1	B	0.30146	0.27	B	0.33799	0.17	D	0.91910	0.5539	10	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	510	P43354	NR4A2_HUMAN	G	510;447;510;521	ENSP00000344479:A510G;ENSP00000389986:A447G;ENSP00000386747:A510G;ENSP00000444925:A521G	ENSP00000344479:A510G	A	-	2	0	NR4A2	156890919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.814000	0.96858	0.563000	0.77884	GCT	.		0.507	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			C	157182673	G	C	157182673	3	2	30	1	0	0	0	0	1	0	0	0	10672	971	34	3	275	3	NR4A2	2	157182673	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	24940985	157182673	86016700	39	5314											
SPC25	57405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	169745769	169745769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaacatctcaaccattcGttcttcttcctttaatttca	2	12	4	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:169745769G>T	ENST00000282074.2	-	3	307	c.166C>A	c.(166-168)Cga>Aga	p.R56R	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	56	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TCAACCATTCGTTCTTCTTCC	0.299																																					p.R56R		.											.	SPC25-226	0			c.C166A						.						95	93	94					2																	169745769		2203	4300	6503	SO:0001819	synonymous_variant	57405	exon3			CCATTCGTTCTTC	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.166C>A	2.37:g.169745769G>T		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	44	14	NM_020675	0	0	13	18	5	A8K4X8|D3DPC0	Silent	SNP	ENST00000282074.2	37	CCDS2229.1																																																																																			.		0.299	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		T	169745769	G	T	169745769	2	4	30	1	0	0	0	0	0	0	0	1	15069	1153	40	2		2	SPC25	2	169745769	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	12563096	169745769	73453604	40	5315											
DHRS9	10170	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	169939955	169939955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtttggactcatcagtGtgacactaaatatgcttcct	7	10	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:169939955G>A	ENST00000327239.4	+	6	1934	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	DHRS9_ENST00000432060.2_Missense_Mutation_p.V204M|DHRS9_ENST00000412271.1_Missense_Mutation_p.V144M|DHRS9_ENST00000428522.1_Missense_Mutation_p.V144M|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.V144M|DHRS9_ENST00000436483.2_Missense_Mutation_p.V144M|DHRS9_ENST00000357546.2_Missense_Mutation_p.V144M	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	144					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTCATCAGTGTGACACTAAA	0.488																																					p.V144M		.											.	DHRS9-90	0			c.G430A						.						150	138	142					2																	169939955		2203	4300	6503	SO:0001583	missense	10170	exon6			ATCAGTGTGACAC	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.430G>A	2.37:g.169939955G>A	ENSP00000316670:p.Val144Met	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	261	89	NM_005771	0	0	0	0	0	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075185	0.94000	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.056120	0.64402	D	0.000001	D	0.91583	0.7341	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.70935	0.955;0.971	D	0.90593	0.4538	10	0.48119	T	0.1	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	204;144	B7Z416;Q9BPW9	.;DHRS9_HUMAN	M	144;144;204;144;144;144	ENSP00000316670:V144M;ENSP00000350154:V144M;ENSP00000389241:V204M;ENSP00000388564:V144M;ENSP00000407167:V144M;ENSP00000407747:V144M	ENSP00000316670:V144M	V	+	1	0	DHRS9	169648201	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	4.560000	0.60802	2.826000	0.97356	0.655000	0.94253	GTG	.		0.488	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		A	169939955	G	A	169939955	3	1	30	1	0	0	0	0	1	0	0	0	4512	1377	48	3	436	3	DHRS9	2	169939955	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	194186	169939955	73259418	41	5316											
DNAH7	56171	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	196740469	196740469	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacaatcttttagatcataCcagttccagtggtctaacca	6	10	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:196740469C>G	ENST00000312428.6	-	38	6316	c.6216G>C	c.(6214-6216)tgG>tgC	p.W2072C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2072	AAA 3. {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						TTAGATCATACCAGTTCCAGT	0.413																																					p.W2072C		.											.	DNAH7-102	0			c.G6216C						.						92	86	88					2																	196740469		1883	4112	5995	SO:0001583	missense	56171	exon38			ATCATACCAGTTC	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.6216G>C	2.37:g.196740469C>G	ENSP00000311273:p.Trp2072Cys	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	241	82	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029412	0.75504	.	.	ENSG00000118997	ENST00000312428	T	0.52983	0.64	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83807	0.0239	10	0.72032	D	0.01	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	2072	Q8WXX0	DYH7_HUMAN	C	2072	ENSP00000311273:W2072C	ENSP00000311273:W2072C	W	-	3	0	DNAH7	196448714	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.361000	0.79497	2.550000	0.86006	0.655000	0.94253	TGG	.		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196740469	C	G	196740469	3	3	30	1	0	0	0	0	1	0	0	0	4620	508	18	3	5970	3	DNAH7	2	196740469	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	26800514	196740469	46458904	42	5317											
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	212589871	212589871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagtcactgacgtaaGgtccgtagcatctgccgtca	12	12	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:212589871G>A	ENST00000342788.4	-	6	981	c.671C>T	c.(670-672)cCt>cTt	p.P224L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P224L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P224L|ERBB4_ENST00000484474.1_5'Flank	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	224	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)	ACTGACGTAAGGTCCGTAGCA	0.488										TSP Lung(8;0.080)																											p.P224L		.											.	ERBB4-1461	0			c.C671T						.						151	133	139					2																	212589871		2203	4300	6503	SO:0001583	missense	2066	exon6			ACGTAAGGTCCGT	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.671C>T	2.37:g.212589871G>A	ENSP00000342235:p.Pro224Leu	Somatic	346	0		WXS	Illumina GAIIx	Phase_I	490	122	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.504341|4.504341	0.85176|0.85176	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.046546	.|0.85682	.|D	.|0.000000	T|T	0.51719|0.51719	0.1691|0.1691	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P	.|0.54207	.|0.907;0.965;0.878;0.907;0.924	.|B;P;P;B;P	.|0.52793	.|0.434;0.709;0.662;0.434;0.592	T|T	0.57670|0.57670	-0.7771|-0.7771	5|10	.|0.72032	.|D	.|0.01	.|.	16.1766|16.1766	0.81857|0.81857	0.0:0.1332:0.8668:0.0|0.0:0.1332:0.8668:0.0	.|.	.|224;224;83;224;224	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	F|L	224|224	.|ENSP00000342235:P224L;ENSP00000403204:P224L;ENSP00000385565:P224L	.|ENSP00000342235:P224L	L|P	-|-	1|2	0|0	ERBB4|ERBB4	212298116|212298116	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.626000|0.626000	0.37791|0.37791	7.925000|7.925000	0.87563|0.87563	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	CTT|CCT	.		0.488	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212589871	G	A	212589871	3	1	30	1	0	0	0	0	1	0	0	0	5225	1000	35	3	3347	3	ERBB4	2	212589871	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	15849402	212589871	30609502	43	5318											
FARSB	10056	hgsc.bcm.edu	37	chr2	223505606	223505607	+	Frame_Shift_Ins	INS	-	-	TT													tgtgataatcaatttctggaINStttttccatcaggcattacc							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:223505606_223505607insTT	ENST00000281828.6	-	4	576_577	c.313_314insAA	c.(313-315)atcfs	p.I105fs	FARSB_ENST00000536361.1_Frame_Shift_Ins_p.I6fs	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	105					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)	CAATTTCTGGATTTTTCCATCA	0.267																																					p.I105fs		.											.	FARSB-91	0			c.314_315insAA						.																																			SO:0001589	frameshift_variant	10056	exon4			TTCTGGATTTTTC	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.312_313dupAA	2.37:g.223505609_223505610dupTT	ENSP00000281828:p.Ile105fs	Somatic	48	2		WXS	Illumina GAIIx	Phase_I	26	14	NM_005687	0	0	0	0	0	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Frame_Shift_Ins	INS	ENST00000281828.6	37	CCDS2454.1																																																																																			.		0.267	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		TT	223505607	-	TT	223505606	7	5	30	1	0	1	1	0	0	0	0	0	5702	333	12	0	1511	0	FARSB	2	223505606	Frame_Shift_Ins	INS	-	TCGA-OR-A5K9-01A-11D-A29I-10	10915735	223505606	19693767	44	5319											
MRPL44	65080	bcgsc.ca	37	chr2	224831581	224831581	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttgttctctttctagtGataaaaagttgattgcagaa	8	5	2	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr2:224831581G>T	ENST00000258383.3	+	4	898	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	277	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)		TCTTTCTAGTGATAAAAAGTT	0.363																																					p.D277Y		.											.	MRPL44-90	0			c.G829T						.						98	111	106					2																	224831581		2203	4300	6503	SO:0001630	splice_region_variant	65080	exon4			TCTAGTGATAAAA	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.828-1G>T	2.37:g.224831581G>T		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	82	5	NM_022915	0	0	0	0	0	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598722	0.66332	.	.	ENSG00000135900	ENST00000258383	T	0.55413	0.52	5.78	4.91	0.64330	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.091078	0.64402	D	0.000001	T	0.71668	0.3367	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.76099	-0.3083	10	0.87932	D	0	-12.9176	12.6118	0.56556	0.0803:0.0:0.9197:0.0	.	277	Q9H9J2	RM44_HUMAN	Y	277	ENSP00000258383:D277Y	ENSP00000258383:D277Y	D	+	1	0	MRPL44	224539825	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.057000	0.71119	1.452000	0.47756	0.591000	0.81541	GAT	.		0.363	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	Missense_Mutation	T	224831581	G	T	224831581	5	4	30	1	0	0	0	0	0	0	1	0	9846	1304	45	3	843	3	MRPL44	2	224831581	Splice_Site	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1325975	224831581	18367792	45	5320											
NGLY1	55768	bcgsc.ca	37	chr3	25777593	25777593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttcacatgcatcacagtGcagccaccgctgctgagaag	9	13	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:25777593G>T	ENST00000280700.5	-	7	1211	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'Flank|NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.H309N|NGLY1_ENST00000396649.3_Missense_Mutation_p.H351N	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	351					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCATCACAGTGCAGCCACCGC	0.418																																					p.H351N		.											.	NGLY1-135	0			c.C1051A						.						53	50	51					3																	25777593		2203	4300	6503	SO:0001583	missense	55768	exon7			CACAGTGCAGCCA	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1051C>A	3.37:g.25777593G>T	ENSP00000280700:p.His351Asn	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_018297	0	0	19	19	0	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025321	0.93518	.	.	ENSG00000151092	ENST00000280700;ENST00000396649;ENST00000417874	T;T;T	0.21191	2.02;2.02;2.02	5.66	5.66	0.87406	Transglutaminase-like (2);	0.041485	0.85682	D	0.000000	T	0.55401	0.1918	M	0.86343	2.81	0.80722	D	1	D;D;D	0.63046	0.975;0.992;0.983	D;D;D	0.77557	0.96;0.99;0.967	T	0.60500	-0.7251	10	0.87932	D	0	-11.824	20.1253	0.97977	0.0:0.0:1.0:0.0	.	309;351;351	B4DJE9;Q96IV0-3;Q96IV0	.;.;NGLY1_HUMAN	N	351;351;309	ENSP00000280700:H351N;ENSP00000379886:H351N;ENSP00000389888:H309N	ENSP00000280700:H351N	H	-	1	0	NGLY1	25752597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.832000	0.97577	0.655000	0.94253	CAC	.		0.418	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			T	25777593	G	T	25777593	3	4	30	1	0	0	0	0	1	0	0	0	10437	1319	46	3	937	3	NGLY1	3	25777593	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		25777593	172244837	46	5321											
VILL	50853	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38043315	38043315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcagcgagcccccccacttCctcgccatcttccagggcca	9	20	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:38043315C>A	ENST00000283713.6	+	13	1709	c.1443C>A	c.(1441-1443)ttC>ttA	p.F481L	VILL_ENST00000383759.2_Missense_Mutation_p.F481L|VILL_ENST00000465644.1_Missense_Mutation_p.F199L			O15195	VILL_HUMAN	villin-like	481					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCCCACTTCCTCGCCATCT	0.602																																					p.F481L		.											.	VILL-90	0			c.C1443A						.						130	110	117					3																	38043315		2203	4300	6503	SO:0001583	missense	50853	exon12			CCACTTCCTCGCC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1443C>A	3.37:g.38043315C>A	ENSP00000283713:p.Phe481Leu	Somatic	232	1		WXS	Illumina GAIIx	Phase_I	286	112	NM_015873	0	0	0	0	0	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937320	0.52972	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.57595	0.39;0.39;0.39	5.05	5.05	0.67936	Gelsolin domain (1);	0.092930	0.85682	N	0.000000	T	0.66538	0.2799	L	0.54965	1.715	0.58432	D	0.999999	B;B	0.32409	0.319;0.37	P;P	0.53062	0.517;0.717	T	0.59273	-0.7485	10	0.20519	T	0.43	-21.8907	18.3625	0.90379	0.0:1.0:0.0:0.0	.	467;481	O15195-2;O15195	.;VILL_HUMAN	L	481;481;467;199	ENSP00000283713:F481L;ENSP00000373266:F481L;ENSP00000422096:F199L	ENSP00000283713:F481L	F	+	3	2	VILL	38018319	1.000000	0.71417	0.999000	0.59377	0.650000	0.38633	4.005000	0.57075	2.520000	0.84964	0.455000	0.32223	TTC	.		0.602	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		A	38043315	C	A	38043315	3	1	30	1	0	0	0	0	1	0	0	0	17214	854	30	3	1489	3	VILL	3	38043315	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	12265722	38043315	159979115	47	5322											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	41266132	41266155	+	In_Frame_Del	DEL	TCCTTCTCTGAGTGGTAAAGGCAA	TCCTTCTCTGAGTGGTAAAGGCAA	-													tctggtgccactaccacagcTccttctctgagtggtaaagg					rs121913407|rs528528236|rs121913409		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	TCCTTCTCTGAGTGGTAAAGGCAA	TCCTTCTCTGAGTGGTAAAGGCAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:41266132_41266155delTCCTTCTCTGAGTGGTAAAGGCAA	ENST00000349496.5	+	3	409_432	c.129_152delTCCTTCTCTGAGTGGTAAAGGCAA	c.(127-153)gctccttctctgagtggtaaaggcaat>gct	p.PSLSGKGN44del	CTNNB1_ENST00000396183.3_In_Frame_Del_p.PSLSGKGN44del|CTNNB1_ENST00000453024.1_In_Frame_Del_p.PSLSGKGN37del|CTNNB1_ENST00000405570.1_In_Frame_Del_p.PSLSGKGN44del|CTNNB1_ENST00000396185.3_In_Frame_Del_p.PSLSGKGN44del	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	44					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45F(384)|p.S45P(168)|p.S45del(54)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.S45A(11)|p.K49R(9)|p.G48D(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.P44A(5)|p.?(4)|p.P44S(4)|p.L46L(3)|p.S47N(3)|p.W25_I140del(3)|p.G50D(3)|p.K49*(2)|p.T3_A126del(2)|p.S45_S47>C(2)|p.G48V(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.S47T(2)|p.P44L(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.L46V(1)|p.M14_S45del(1)|p.S47G(1)|p.T40_L46del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.L46_S47del(1)|p.P44_S45insAP(1)|p.P44_N51del(1)|p.A43del(1)|p.K49E(1)|p.K49K(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.G50S(1)|p.S45fs*2(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.K49L(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S47C(1)|p.H24_M131del(1)|p.S45E(1)|p.S47R(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.S45S(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.S45_G48del(1)|p.P44del(1)|p.N51S(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAA	0.491	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.43_51del	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	841	Substitution - Missense(648)|Deletion - In frame(157)|Complex - deletion inframe(20)|Unknown(7)|Substitution - coding silent(5)|Substitution - Nonsense(2)|Insertion - In frame(1)|Deletion - Frameshift(1)	soft_tissue(278)|liver(208)|large_intestine(103)|kidney(98)|adrenal_gland(34)|endometrium(24)|thyroid(20)|skin(16)|haematopoietic_and_lymphoid_tissue(13)|stomach(12)|ovary(6)|biliary_tract(5)|pituitary(4)|lung(3)|cervix(3)|central_nervous_system(3)|prostate(3)|pancreas(2)|small_intestine(2)|bone(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	c.129_152del						.																																			SO:0001651	inframe_deletion	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CACAGCTCCTTCT	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.129_152delTCCTTCTCTGAGTGGTAAAGGCAA	3.37:g.41266132_41266155delTCCTTCTCTGAGTGGTAAAGGCAA	ENSP00000344456:p.Pro44_Asn51del	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	113	15	NM_001098209	0	0	0	0	0	A8K1L7|Q8NEW9|Q8NI94|Q9H391	In_Frame_Del	DEL	ENST00000349496.5	37	CCDS2694.1																																																																																			.		0.491	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		-	41266155	TCCTTCTCTGAGTGGTAAAGGCAA	-	41266132	7	5	30	1	0	1	0	1	0	0	0	0	4025	1538	54	0	135	0	CTNNB1	3	41266132	In_Frame_Del	DEL	TCCTTCTCTGAGTGGTAAAGGCAA	TCGA-OR-A5K9-01A-11D-A29I-10	3222817	41266132	156756298	48	5323											
FYCO1	79443	bcgsc.ca	37	chr3	46007825	46007825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctggaacttgagggtgtTgagctcctggtgtgcagcct	15	9	0	2	rs71622515|rs13059238	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:46007825T>C	ENST00000296137.2	-	8	3206	c.3001A>G	c.(3001-3003)Aac>Gac	p.N1001D	FYCO1_ENST00000535325.1_Missense_Mutation_p.N1001D	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1001			N -> D (in dbSNP:rs13059238).		plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTGAGGGTGTTGAGCTCCTGG	0.617													C|||	548	0.109425	0.0189	0.0634	5008	,	,		19562	0.004		0.1233	False		,,,				2504	0.3589				p.N1001D		.											.	FYCO1-91	0			c.A3001G						.	C	ASP/ASN	40,4366	819.4+/-416.4	1,38,2164	95	82	86		3001	2.3	0.2	3	dbSNP_121	86	35,8565	809.3+/-407.2	5,25,4270	no	missense	FYCO1	NM_024513.2	23	6,63,6434	CC,CT,TT		0.407,0.9079,0.5767	benign	1001/1479	46007825	75,12931	2203	4300	6503	SO:0001583	missense	79443	exon8			GGGTGTTGAGCTC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3001A>G	3.37:g.46007825T>C	ENSP00000296137:p.Asn1001Asp	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	149	7	NM_024513	0	0	0	0	0	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	136	0.06227106227106227	10	0.02032520325203252	21	0.058011049723756904	0	0.0	105	0.13852242744063326	C	0.383	-0.927848	0.02377	0.009079	0.00407	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.79554	-1.28;-1.28	5.49	2.29	0.28610	.	0.437095	0.25572	N	0.029755	T	0.00468	0.0015	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04781	-1.0927	9	0.06625	T	0.88	-17.5834	4.0771	0.09909	0.2588:0.4452:0.0:0.296	rs13059238;rs13059238	1001;1001	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	D	1001	ENSP00000296137:N1001D;ENSP00000441178:N1001D	ENSP00000296137:N1001D	N	-	1	0	FYCO1	45982829	0.017000	0.18338	0.216000	0.23742	0.995000	0.86356	0.889000	0.28282	0.260000	0.21731	-0.119000	0.15052	AAC	GTT|0.500;TTC|0.500		0.617	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		C	46007825	T	C	46007825	3	2	30	1	0	0	0	0	1	0	0	0	6149	1812	63	4	1479	4	FYCO1	3	46007825	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	4741693	46007825	152014605	49	5324											
SETD2	29072	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	47139519	47139519	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgactctgttttctcctcCcaggtaaccccggcaattgg	9	14	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:47139519C>G	ENST00000409792.3	-	9	5110	c.5068G>C	c.(5068-5070)Gga>Cga	p.G1690R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1690	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				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)			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)		TTTTCTCCTCCCAGGTAACCC	0.433			"N, F, S, Mis"		clear cell renal carcinoma																																p.G1690R		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	SETD2-1273	0			c.G5068C						.						101	88	92					3																	47139519		2203	4300	6503	SO:0001583	missense	29072	exon9			CTCCTCCCAGGTA	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.5068G>C	3.37:g.47139519C>G	ENSP00000386759:p.Gly1690Arg	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_014159	0	0	10	11	1	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	33	5.283068	0.95489	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.91351	-2.83	5.29	5.29	0.74685	Post-SET domain (2);	0.000000	0.53938	D	0.000059	D	0.95446	0.8521	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95571	0.8638	10	0.87932	D	0	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	1690;1690	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1690	ENSP00000386759:G1690R	ENSP00000386759:G1690R	G	-	1	0	SETD2	47114523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.752000	0.94435	0.557000	0.71058	GGA	.		0.433	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47139519	C	G	47139519	3	3	30	1	0	0	0	0	1	0	0	0	14176	632	22	3	2678	3	SETD2	3	47139519	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1131694	47139519	150882911	50	5325											
PDZRN3	23024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	73437153	73437153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatcagcaatgaaaagTttttattttcttcactggtt	6	6	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:73437153T>C	ENST00000263666.4	-	8	1598	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.N217S|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.N152S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.N152S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.N212S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	495	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAATGAAAAGTTTTTATTTTC	0.433																																					p.N495S		.											.	PDZRN3-232	0			c.A1484G						.						139	157	151					3																	73437153		2203	4300	6503	SO:0001583	missense	23024	exon8			GAAAAGTTTTTAT	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1484A>G	3.37:g.73437153T>C	ENSP00000263666:p.Asn495Ser	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	14	6	NM_015009	0	0	5	8	3	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.64|13.64	2.298768|2.298768	0.40694|0.40694	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76;1.76|.	4.73|4.73	4.73|4.73	0.59995|0.59995	PDZ/DHR/GLGF (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33469|0.33469	0.0864|0.0864	N|N	0.03930|0.03930	-0.32|-0.32	0.58432|0.58432	D|D	0.999998|0.999998	B;P;B;D|.	0.64830|.	0.16;0.84;0.025;0.994|.	B;P;B;D|.	0.73708|.	0.111;0.802;0.021;0.981|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.10111|.	T|.	0.7|.	.|.	14.1917|14.1917	0.65641|0.65641	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217;212;212;495|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	S|A	495;217;152;152;212;495;193|92	ENSP00000263666:N495S;ENSP00000442026:N217S;ENSP00000418168:N152S;ENSP00000418484:N152S;ENSP00000418624:N212S;ENSP00000419250:N193S|.	ENSP00000263666:N495S|.	N|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73519843|73519843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.335000|3.335000	0.52105|0.52105	1.897000|1.897000	0.54924|0.54924	0.533000|0.533000	0.62120|0.62120	AAC|ACT	.		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		C	73437153	T	C	73437153	3	2	30	1	0	0	0	0	1	0	0	0	11748	1725	60	4	1728	4	PDZRN3	3	73437153	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	26297634	73437153	124585277	51	5326											
ZPLD1	131368	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	102171934	102171934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctttccagcagtggtcaTttttatcatcaatctcagca	5	12	4	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:102171934T>C	ENST00000491959.1	+	10	1160	c.278T>C	c.(277-279)aTt>aCt	p.I93T	ZPLD1_ENST00000466937.1_Missense_Mutation_p.I93T|ZPLD1_ENST00000306176.1_Missense_Mutation_p.I109T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	93	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCAGTGGTCATTTTTATCATC	0.458																																					p.I109T		.											.	ZPLD1-72	0			c.T326C						.						89	81	84					3																	102171934		2203	4300	6503	SO:0001583	missense	131368	exon3			TGGTCATTTTTAT	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.278T>C	3.37:g.102171934T>C	ENSP00000420265:p.Ile93Thr	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	109	54	NM_175056	0	0	0	0	0	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	T	13.61	2.288275	0.40494	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82081	-1.57;-1.57;-1.57	5.99	5.99	0.97316	Zona pellucida sperm-binding protein (3);	0.044854	0.85682	D	0.000000	T	0.80319	0.4601	N	0.22421	0.69	0.80722	D	1	D;B	0.56521	0.976;0.075	P;B	0.54140	0.743;0.022	T	0.76402	-0.2972	10	0.11485	T	0.65	-19.7538	16.4943	0.84223	0.0:0.0:0.0:1.0	.	109;93	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	93;109;93	ENSP00000420265:I93T;ENSP00000307801:I109T;ENSP00000418253:I93T	ENSP00000307801:I109T	I	+	2	0	ZPLD1	103654624	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.605000	0.82844	2.291000	0.77112	0.533000	0.62120	ATT	.		0.458	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		C	102171934	T	C	102171934	3	2	30	1	0	0	0	0	1	0	0	0	18269	1493	52	4	336	4	ZPLD1	3	102171934	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	28734781	102171934	95850496	52	5327											
HEG1	57493	bcgsc.ca	37	chr3	124692689	124692689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttggggtattcagcataCggggacatttggaaatctcc	11	7	2	0	rs2270778	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:124692689C>T	ENST00000311127.4	-	16	3949	c.3882G>A	c.(3880-3882)ccG>ccA	p.P1294P		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1294					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						ATTCAGCATACGGGGACATTT	0.398													T|||	3528	0.704473	0.8759	0.5994	5008	,	,		19410	0.7827		0.6034	False		,,,				2504	0.5706				p.P1294P		.											.	HEG1-70	0			c.G3882A						.	T		3050,620		1267,516,52	130	127	128		3882	-6.4	0.6	3	dbSNP_100	128	4890,3304		1447,1996,654	no	coding-synonymous	HEG1	NM_020733.1		2714,2512,706	TT,TC,CC		40.3222,16.8937,33.0748		1294/1382	124692689	7940,3924	1835	4097	5932	SO:0001819	synonymous_variant	57493	exon16			AGCATACGGGGAC	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.3882G>A	3.37:g.124692689C>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	60	6	NM_020733	0	0	6	6	0	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																			C|0.292;T|0.708		0.398	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124692689	C	T	124692689	2	4	30	1	0	0	0	0	0	0	0	1	7071	523	19	1		1	HEG1	3	124692689	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	22520755	124692689	73329741	53	5328											
BCHE	590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	165548281	165548281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcctggcaaagctaagaAtcctagggcacccaccctat	7	13	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:165548281A>G	ENST00000264381.3	-	2	707	c.541T>C	c.(541-543)Ttc>Ctc	p.F181L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	181					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)	AAAGCTAAGAATCCTAGGGCA	0.428																																					p.F181L		.											.	BCHE-94	0			c.T541C						.						61	64	63					3																	165548281		2203	4300	6503	SO:0001583	missense	590	exon2			CTAAGAATCCTAG	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.541T>C	3.37:g.165548281A>G	ENSP00000264381:p.Phe181Leu	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	65	36	NM_000055	0	0	16	16	0	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432678	0.83776	.	.	ENSG00000114200	ENST00000264381	T	0.80566	-1.39	5.86	5.86	0.93980	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94978	0.8123	10	0.87932	D	0	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	181	P06276	CHLE_HUMAN	L	181	ENSP00000264381:F181L	ENSP00000264381:F181L	F	-	1	0	BCHE	167030975	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	8.600000	0.90860	2.240000	0.73641	0.533000	0.62120	TTC	.		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			G	165548281	A	G	165548281	3	3	30	1	0	0	0	0	1	0	0	0	1359	101	4	4	1279	4	BCHE	3	165548281	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	40855592	165548281	32474149	54	5329											
ZNF639	51193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	179051848	179051848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagcctcttaagcaaaattAcctttgacaaatgtaaaaac	4	8	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:179051848A>G	ENST00000326361.3	+	7	1541	c.1096A>G	c.(1096-1098)Acc>Gcc	p.T366A	ZNF639_ENST00000484866.1_Missense_Mutation_p.T366A|ZNF639_ENST00000496856.1_Missense_Mutation_p.T366A	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	366					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAGCAAAATTACCTTTGACAA	0.338																																					p.T366A		.											.	ZNF639-90	0			c.A1096G						.						102	99	100					3																	179051848		2203	4300	6503	SO:0001583	missense	51193	exon7			AAAATTACCTTTG	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1096A>G	3.37:g.179051848A>G	ENSP00000325634:p.Thr366Ala	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	139	62	NM_016331	0	0	13	15	2	A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245523	0.59103	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.03831	3.79;3.79;3.79	5.78	5.78	0.91487	.	0.065938	0.64402	D	0.000013	T	0.04363	0.0120	N	0.14661	0.345	0.34734	D	0.730074	B	0.29378	0.243	B	0.26094	0.066	T	0.39623	-0.9605	10	0.56958	D	0.05	.	16.3971	0.83610	1.0:0.0:0.0:0.0	.	366	Q9UID6	ZN639_HUMAN	A	366	ENSP00000417740:T366A;ENSP00000325634:T366A;ENSP00000418766:T366A	ENSP00000325634:T366A	T	+	1	0	ZNF639	180534542	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.287000	0.72671	2.330000	0.79161	0.533000	0.62120	ACC	.		0.338	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		G	179051848	A	G	179051848	3	3	30	1	0	0	0	0	1	0	0	0	18104	391	14	4	1110	4	ZNF639	3	179051848	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	13503567	179051848	18970582	55	5330											
MAP3K13	9175	broad.mit.edu	37	chr3	185190907	185190907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccgccgagggaatagcagAggcagccatagtgactttgc	13	11	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:185190907A>T	ENST00000265026.3	+	11	2122	c.1788A>T	c.(1786-1788)agA>agT	p.R596S	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R452S|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R389S|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R596S|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R452S	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAATAGCAGAGGCAGCCATA	0.532																																					p.R596S		.											.	MAP3K13-548	0			c.A1788T						.						242	265	257					3																	185190907		2203	4300	6503	SO:0001583	missense	9175	exon11			TAGCAGAGGCAGC	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.1788A>T	3.37:g.185190907A>T	ENSP00000265026:p.Arg596Ser	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	106	4	NM_004721	0	0	6	6	0		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905549	0.52333	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.47	0.349	0.16032	Protein kinase-like domain (1);	0.052653	0.64402	D	0.000001	T	0.05502	0.0145	N	0.14661	0.345	0.43885	D	0.996507	B;B;B	0.33549	0.287;0.417;0.189	B;B;B	0.28011	0.085;0.085;0.039	T	0.48151	-0.9060	10	0.21014	T	0.42	.	5.9622	0.19305	0.6677:0.1277:0.2046:0.0	.	452;389;596	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	S	389;596;452;452;596	ENSP00000411483:R389S;ENSP00000399910:R596S;ENSP00000409325:R452S;ENSP00000439257:R452S;ENSP00000265026:R596S	ENSP00000265026:R596S	R	+	3	2	MAP3K13	186673601	0.999000	0.42202	0.993000	0.49108	0.980000	0.70556	0.929000	0.28844	-0.166000	0.10890	-0.379000	0.06801	AGA	.		0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		T	185190907	A	T	185190907	3	4	30	1	0	0	0	0	1	0	0	0	9285	301	11	5	1826	5	MAP3K13	3	185190907	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	6139059	185190907	12831523	56	5331											
ATP13A4	84239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	193174877	193174877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatctcttggacaatgacTgtcattctttgcagtgccga	8	12	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr3:193174877T>C	ENST00000342695.4	-	16	2149	c.1827A>G	c.(1825-1827)acA>acG	p.T609T	ATP13A4_ENST00000392443.3_Silent_p.T590T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	609						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGACAATGACTGTCATTCTTT	0.517																																					p.T609T		.											.	ATP13A4-92	0			c.A1827G						.						129	112	117					3																	193174877		2203	4300	6503	SO:0001819	synonymous_variant	84239	exon16			AATGACTGTCATT	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1827A>G	3.37:g.193174877T>C		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	161	76	NM_032279	0	0	0	0	0	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																			.		0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		C	193174877	T	C	193174877	2	2	30	1	0	0	0	0	0	0	0	1	1127	1567	55	4		4	ATP13A4	3	193174877	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	7983970	193174877	4847553	57	5332											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000453894.1_Missense_Mutation_p.T396P|IDUA_ENST00000514224.1_Missense_Mutation_p.T242P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	75	5		WXS	Illumina GAIIx	Phase_I	386	114	NM_000203	0	0	8	9	1	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	30	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		996204	190158072	58	5333											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388867	1388867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgtggagtgcccgcctgAtcacacgtgcccatgtggag	13	13	1	1	rs76058011	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:1388867A>C	ENST00000324803.4	+	1	3528	c.568A>C	c.(568-570)Atc>Ctc	p.I190L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	190					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCGCCTGATCACACGTGC	0.662													N|||	145	0.0289537	0.0174	0.0447	5008	,	,		14453	0.0099		0.0586	False		,,,				2504	0.0225				p.I190L		.											.	CRIPAK-90	0			c.A568C						.						246	170	197					4																	1388867		2172	3827	5999	SO:0001583	missense	285464	exon1			CGCCTGATCACAC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.568A>C	4.37:g.1388867A>C	ENSP00000323978:p.Ile190Leu	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	383	28	NM_175918	0	0	6	76	70	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	4.910	0.169067	0.09339	.	.	ENSG00000179979	ENST00000324803	T	0.19394	2.15	1.25	-1.56	0.08532	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.10636	T	0.68	.	0.5937	0.00732	0.3976:0.2382:0.1983:0.1659	.	190	Q8N1N5	CRPAK_HUMAN	L	190	ENSP00000323978:I190L	ENSP00000323978:I190L	I	+	1	0	CRIPAK	1378867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.558000	0.00923	-1.849000	0.01171	-2.030000	0.00424	ATC	A|0.994;C|0.006		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388867	A	C	1388867	3	2	30	1	0	0	0	0	1	0	0	0	3884	333	12	5	570	5	CRIPAK	4	1388867	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	392663	1388867	189765409	59	5334											
MSX1	4487	hgsc.bcm.edu	37	chr4	4861745	4861745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccgccgcggccacggCagccgccatgggcgcggacg	17	18	0	0	rs36059701	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:4861745C>G	ENST00000382723.4	+	1	353	c.119C>G	c.(118-120)gCa>gGa	p.A40G		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	40	Poly-Ala.				activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		gcggccACGGCAGCCGCCATG	0.716													C|||	519	0.103634	0.0893	0.1037	5008	,	,		6085	0.0565		0.165	False		,,,				2504	0.1084				p.A40G		.											.	MSX1-90	0			c.C119G	GRCh37	CM045070	MSX1	M	rs36059701	.	C	GLY/ALA	241,2261		15,211,1025	3	4	4		119	2.9	0.4	4	dbSNP_126	4	677,4129		58,561,1784	no	missense	MSX1	NM_002448.3	60	73,772,2809	GG,GC,CC		14.0866,9.6323,12.5616	benign	40/304	4861745	918,6390	1251	2403	3654	SO:0001583	missense	4487	exon1			CCACGGCAGCCGC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.119C>G	4.37:g.4861745C>G	ENSP00000372170:p.Ala40Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	4	NM_002448	0	0	0	1	1	A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	CCDS3378.2	290	0.13278388278388278	53	0.10772357723577236	45	0.12430939226519337	44	0.07692307692307693	148	0.19525065963060687	C	6.955	0.546124	0.13312	0.096323	0.140866	ENSG00000163132	ENST00000382723	D	0.95885	-3.84	4.66	2.92	0.33932	.	0.650131	0.15386	N	0.265060	T	0.00552	0.0018	N	0.24115	0.695	0.51767	P	6.20000000000065E-5	B	0.16166	0.016	B	0.15870	0.014	T	0.44003	-0.9356	9	0.11182	T	0.66	-4.3518	5.025	0.14379	0.1663:0.6515:0.0:0.1822	rs36059701	34	P28360	MSX1_HUMAN	G	40	ENSP00000372170:A40G	ENSP00000372170:A40G	A	+	2	0	MSX1	4912646	0.996000	0.38824	0.367000	0.25926	0.047000	0.14425	0.572000	0.23684	0.390000	0.25115	0.491000	0.48974	GCA	C|0.867;G|0.133		0.716	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			G	4861745	C	G	4861745	3	3	30	1	0	0	0	0	1	0	0	0	9933	710	25	3	121	3	MSX1	4	4861745	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	3472878	4861745	186292531	60	5335											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492769	48492769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctctttctcccagcAgccatcccgtcgaggcctgg	12	16	2	0	rs74929644	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:48492769A>T	ENST00000327939.4	+	1	501	c.461A>T	c.(460-462)cAg>cTg	p.Q154L		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	154					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						TTCTCCCAGCAGCCATCCCGT	0.781													A|||	1944	0.388179	0.171	0.572	5008	,	,		7581	0.4454		0.5089	False		,,,				2504	0.3681				p.Q154L		.											.	ZAR1-90	0			c.A461T						.	A	LEU/GLN	483,2381		61,361,1010	4	4	4		461	-6.2	0	4	dbSNP_131	4	2428,3758		540,1348,1205	no	missense	ZAR1	NM_175619.1	113	601,1709,2215	TT,TA,AA		39.2499,16.8645,32.1657	benign	154/425	48492769	2911,6139	1432	3093	4525	SO:0001583	missense	326340	exon1			CCCAGCAGCCATC	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.461A>T	4.37:g.48492769A>T	ENSP00000329803:p.Gln154Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	979	0.4482600732600733	95	0.19308943089430894	212	0.585635359116022	288	0.5034965034965035	384	0.5065963060686016	A	12.09	1.834066	0.32421	0.168645	0.392499	ENSG00000182223	ENST00000327939	.	.	.	3.61	-6.17	0.02091	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.49194	-0.8965	7	0.25751	T	0.34	.	0.9878	0.01450	0.443:0.2168:0.1793:0.1609	.	154	Q86SH2	ZAR1_HUMAN	L	154	.	ENSP00000329803:Q154L	Q	+	2	0	ZAR1	48187526	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.738000	0.04871	-0.489000	0.06716	-0.680000	0.03767	CAG	A|0.552;T|0.448		0.781	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			T	48492769	A	T	48492769	3	4	30	1	0	0	0	0	1	0	0	0	17564	188	7	5	463	5	ZAR1	4	48492769	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	43631024	48492769	142661507	61	5336											
UGT2A3	79799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69817434	69817435	+	Missense_Mutation	DNP	GA	GA	CT													aatccacagccaacacagaaGagctgcaggagcagaaatac							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:69817434_69817435GA>CT	ENST00000251566.4	-	1	74_75	c.44_45TC>AG	c.(43-45)cTC>cAG	p.L15Q	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	15					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAACACAGAAGAGCTGCAGGAG	0.475																																					p.L15Q		.											.	UGT2A3-92	0			c.T44A						.																																			SO:0001583	missense	79799	exon1			CAGAAGAGCTGCA		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.44_45delinsCT	4.37:g.69817434_69817435delinsCT	ENSP00000251566:p.Leu15Gln	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	91	0	NM_024743	0	0	0	0	0	Q9H6S4	Missense_Mutation	DNP	ENST00000251566.4	37	CCDS3525.1																																																																																			.		0.475	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		CT	69817435	GA	CT	69817434	3	2	30	1	0	0	0	0	1	0	0	0	17004	929	33	3	1562	3	UGT2A3	4	69817434	Missense_Mutation	DNP	GA	TCGA-OR-A5K9-01A-11D-A29I-10	21324665	69817434	121336842	62	5337											
UGT2B28	54490	broad.mit.edu	37	chr4	70156400	70156400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccctatggtaggcattcCattgttttgggatcaacctg	10	9	1	0	rs557930259	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:70156400C>A	ENST00000335568.5	+	5	1183	c.1181C>A	c.(1180-1182)cCa>cAa	p.P394Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	394					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GTAGGCATTCCATTGTTTTGG	0.463																																					p.P394Q		.											.	UGT2B28-91	0			c.C1181A						.						112	112	112					4																	70156400		2048	4237	6285	SO:0001583	missense	54490	exon5			GCATTCCATTGTT	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1181C>A	4.37:g.70156400C>A	ENSP00000334276:p.Pro394Gln	Somatic	625	1		WXS	Illumina GAIIx	Phase_I	816	18	NM_053039	0	0	0	0	0	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.55	1.382451	0.24944	.	.	ENSG00000135226	ENST00000335568	D	0.90261	-2.64	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000001	D	0.96611	0.8894	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95666	0.8719	10	0.87932	D	0	.	9.3109	0.37903	0.0:1.0:0.0:0.0	.	394	Q9BY64	UDB28_HUMAN	Q	394	ENSP00000334276:P394Q	ENSP00000334276:P394Q	P	+	2	0	UGT2B28	70190989	1.000000	0.71417	0.120000	0.21714	0.014000	0.08584	6.688000	0.74557	1.023000	0.39654	0.184000	0.17185	CCA	.		0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70156400	C	A	70156400	3	1	30	1	0	0	0	0	1	0	0	0	17009	594	21	3	1199	3	UGT2B28	4	70156400	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	338966	70156400	120997876	63	5338											
DSPP	1834	bcgsc.ca	37	chr4	88537171	88537171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcagtgacagcagtgaCagcagcaatagcagtgacag	13	8	0	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:88537171C>T	ENST00000282478.7	+	4	3390	c.3357C>T	c.(3355-3357)gaC>gaT	p.D1119D	DSPP_ENST00000399271.1_Silent_p.D1119D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1119	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)		acagcagtgacagcagcaata	0.547																																					p.D1119D		.											.	DSPP-90	0			c.C3357T						.						18	23	21					4																	88537171		1240	2349	3589	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3357C>T	4.37:g.88537171C>T		Somatic	641	7		WXS	Illumina GAIIx	Phase_I	1051	32	NM_014208	0	0	0	0	0	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	88537171	C	T	88537171	2	4	30	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537171	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	18380771	88537171	102617105	64	5339			1	28		4	3	52	N	T_C	9.91286e-08
DSPP	1834	bcgsc.ca	37	chr4	88537186	88537186	+	Silent	SNP	T	T	C													agtgacagcagcaatagcagTgacagcagtgacagcagcga							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:88537186T>C	ENST00000282478.7	+	4	3405	c.3372T>C	c.(3370-3372)agT>agC	p.S1124S	DSPP_ENST00000399271.1_Silent_p.S1124S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1124	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)		gcaatagcagtgacagcagtg	0.562																																					p.S1124S		.											.	DSPP-90	0			c.T3372C						.						17	22	20					4																	88537186		1209	2326	3535	SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3372T>C	4.37:g.88537186T>C		Somatic	647	16		WXS	Illumina GAIIx	Phase_I	1046	78	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537186	T	C	88537186	2	2	30	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537186	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	15	88537186	102617090	65	5340	40	2	1	28		4	3	52	N	T_C	9.91286e-08
DSPP	1834	bcgsc.ca	37	chr4	88537195	88537195	+	Silent	SNP	T	T	C													agcaatagcagtgacagcagTgacagcagcgacagcagtga							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:88537195T>C	ENST00000282478.7	+	4	3414	c.3381T>C	c.(3379-3381)agT>agC	p.S1127S	DSPP_ENST00000399271.1_Silent_p.S1127S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1127	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)		gtgacagcagtgacagcagcg	0.567																																					p.S1127S		.											.	DSPP-90	0			c.T3381C						.						16	22	20					4																	88537195		1225	2378	3603	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGACAGC	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.3381T>C	4.37:g.88537195T>C		Somatic	636	18		WXS	Illumina GAIIx	Phase_I	1014	68	NM_014208	0	0	0	0	0	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		C	88537195	T	C	88537195	2	2	30	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537195	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	9	88537195	102617081	66	5341	40	2	1	28		4	3	52	N	T_C	9.91286e-08
DSPP	1834	bcgsc.ca	37	chr4	88537222	88537222	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgacagcagtgatagcagTgacagcagcaacagcagtga	13	9	0	3	rs200679221		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:88537222T>C	ENST00000282478.7	+	4	3441	c.3408T>C	c.(3406-3408)agT>agC	p.S1136S	DSPP_ENST00000399271.1_Silent_p.S1136S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1136	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)		gtgatagcagtgacagcagca	0.572																																					p.S1136S		.											.	DSPP-90	0			c.T3408C						.																																			SO:0001819	synonymous_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3408T>C	4.37:g.88537222T>C		Somatic	730	5		WXS	Illumina GAIIx	Phase_I	1121	36	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.572	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537222	T	C	88537222	2	2	30	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537222	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	27	88537222	102617054	67	5342			1	28		4	3	52	N	T_C	9.91286e-08
C4orf32	132720	hgsc.bcm.edu	37	chr4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcggcagggaccgGgtgggatcccggggcgagcc	23	11	0	0	rs10002700	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1	1	5008	,	,		5782	1		0.996	False		,,,				2504	1				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3	5	4		95	2	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_152400	0	0	0	6	6	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066831	G	A	113066831	3	1	30	1	0	0	0	0	1	0	0	0	2269	1232	43	3	97	3	C4orf32	4	113066831	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	24529609	113066831	78087445	68	5343											
FGF2	2247	hgsc.bcm.edu	37	chr4	123748086	123748086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcggagacacccatcCgtgaaccccaggtcccgggc	12	18	0	2	rs1449683	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:123748086C>T	ENST00000264498.3	+	1	224	c.156C>T	c.(154-156)tcC>tcT	p.S52S	AC021205.1_ENST00000517260.1_RNA|FGF2_ENST00000608478.1_5'UTR	NM_002006.4	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	52					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	GACACCCATCCGTGAACCCCA	0.776													C|||	894	0.178514	0.2958	0.1888	5008	,	,		4940	0.1508		0.1004	False		,,,				2504	0.1217				p.S52S		.											.	FGF2-659	0			c.C156T						.	C		760,3152		45,670,1241	3	6	5		156	0.8	0	4	dbSNP_88	5	566,7178		28,510,3334	no	coding-synonymous	FGF2	NM_002006.4		73,1180,4575	TT,TC,CC		7.3089,19.4274,11.3761		52/289	123748086	1326,10330	1956	3872	5828	SO:0001819	synonymous_variant	2247	exon1			CCCATCCGTGAAC	J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"Endogenous ligands"	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000264498.3:c.156C>T	4.37:g.123748086C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	16	NM_002006	0	0	0	0	0	A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Silent	SNP	ENST00000264498.3	37	CCDS34059.1																																																																																			C|0.833;T|0.167		0.776	FGF2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095330.3	NM_002006		T	123748086	C	T	123748086	2	4	30	1	0	0	0	0	0	0	0	1	5870	639	23	1		1	FGF2	4	123748086	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	10681255	123748086	67406190	69	5344											
FAT4	79633	broad.mit.edu;bcgsc.ca	37	chr4	126240715	126240715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcatattcccagatgGtcaattgtatataaaaagtg	8	5	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:126240715G>T	ENST00000394329.3	+	1	3162	c.3149G>T	c.(3148-3150)gGt>gTt	p.G1050V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1050	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCCAGATGGTCAATTGTAT	0.403																																					p.G1050V		.											.	FAT4-108	0			c.G3149T						.						117	110	112					4																	126240715		1865	4100	5965	SO:0001583	missense	79633	exon1			CAGATGGTCAATT	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.3149G>T	4.37:g.126240715G>T	ENSP00000377862:p.Gly1050Val	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	206	8	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599441	0.66332	.	.	ENSG00000196159	ENST00000394329	D	0.91464	-2.85	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003467	D	0.97480	0.9175	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	17.5378	0.87837	0.0:0.0:1.0:0.0	.	1050	Q6V0I7	FAT4_HUMAN	V	1050	ENSP00000377862:G1050V	ENSP00000377862:G1050V	G	+	2	0	FAT4	126460165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.454000	0.97621	2.354000	0.79902	0.462000	0.41574	GGT	.		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126240715	G	T	126240715	3	4	30	1	0	0	0	0	1	0	0	0	5714	1261	44	3	3151	3	FAT4	4	126240715	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	2492629	126240715	64913561	70	5345											
FAT4	79633	broad.mit.edu	37	chr4	126241103	126241103	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgtgtttagctttacagtCatagcaacagatcaggggat	11	7	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:126241103C>T	ENST00000394329.3	+	1	3550	c.3537C>T	c.(3535-3537)gtC>gtT	p.V1179V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1179	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTTTACAGTCATAGCAACAG	0.428																																					p.V1179V		.											.	FAT4-108	0			c.C3537T						.						96	97	97					4																	126241103		1936	4132	6068	SO:0001819	synonymous_variant	79633	exon1			TACAGTCATAGCA	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.3537C>T	4.37:g.126241103C>T		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	21	5	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																			.		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126241103	C	T	126241103	2	4	30	1	0	0	0	0	0	0	0	1	5714	813	29	3		3	FAT4	4	126241103	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	388	126241103	64913173	71	5346											
LRBA	987	bcgsc.ca	37	chr4	151793903	151793903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgccagaagtttgtagaTaacactgaatgaataaaaat	8	5	0	4	rs72719663	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr4:151793903T>C	ENST00000357115.3	-	18	2413	c.2170A>G	c.(2170-2172)Atc>Gtc	p.I724V	LRBA_ENST00000507224.1_Missense_Mutation_p.I724V|LRBA_ENST00000535741.1_Missense_Mutation_p.I724V|LRBA_ENST00000510413.1_Missense_Mutation_p.I724V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	724						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTTTGTAGATAACACTGAAT	0.279													T|||	48	0.00958466	8e-04	0.0173	5008	,	,		13099	0		0.0159	False		,,,				2504	0.0194				p.I724V		.											.	LRBA-157	0			c.A2170G						.	T	VAL/ILE,VAL/ILE	26,4380	31.7+/-61.6	0,26,2177	69	69	69		2170,2170	4.6	1	4	dbSNP_130	69	263,8337	101.2+/-162.5	3,257,4040	yes	missense,missense	LRBA	NM_001199282.2,NM_006726.4	29,29	3,283,6217	CC,CT,TT		3.0581,0.5901,2.2221	benign,benign	724/2864,724/2864	151793903	289,12717	2203	4300	6503	SO:0001583	missense	987	exon18			TGTAGATAACACT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2170A>G	4.37:g.151793903T>C	ENSP00000349629:p.Ile724Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_006726	0	0	0	0	0	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	21	0.009615384615384616	0	0.0	8	0.022099447513812154	0	0.0	13	0.017150395778364115	T	9.446	1.089271	0.20390	0.005901	0.030581	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.81	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.311295	0.30667	N	0.009136	T	0.21145	0.0509	N	0.17312	0.475	0.34945	D	0.750677	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.33777	-0.9855	10	0.24483	T	0.36	.	5.4566	0.16594	0.0:0.1452:0.1555:0.6992	.	724;724	P50851;P50851-2	LRBA_HUMAN;.	V	724	ENSP00000446299:I724V;ENSP00000421552:I724V;ENSP00000349629:I724V;ENSP00000422180:I724V	ENSP00000349629:I724V	I	-	1	0	LRBA	152013353	0.735000	0.28153	1.000000	0.80357	0.981000	0.71138	1.086000	0.30853	0.993000	0.38866	0.477000	0.44152	ATC	T|0.983;C|0.017		0.279	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151793903	T	C	151793903	3	2	30	1	0	0	0	0	1	0	0	0	8966	1406	49	4	6585	4	LRBA	4	151793903	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	25552800	151793903	39360373	72	5347											
LRRC14B	389257	hgsc.bcm.edu	37	chr5	191992	191992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggtggctgacctcacGggcatccgagatgtgcaggt	16	11	1	2	rs34710524	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:191992G>A	ENST00000328278.3	+	1	367	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	113										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CTGACCTCACGGGCATCCGAG	0.741													G|||	110	0.0219649	0.0023	0.0346	5008	,	,		13465	0		0.0746	False		,,,				2504	0.0082				p.T113T		.											.	LRRC14B-69	0			c.G339A						.	G		35,2869		0,35,1417	2	3	2		339	-10.1	0	5	dbSNP_126	2	366,5908		2,362,2773	no	coding-synonymous	LRRC14B	NM_001080478.1		2,397,4190	AA,AG,GG		5.8336,1.2052,4.3691		113/515	191992	401,8777	1452	3137	4589	SO:0001819	synonymous_variant	389257	exon1			CCTCACGGGCATC		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.339G>A	5.37:g.191992G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	20	NM_001080478	0	0	0	0	0		Silent	SNP	ENST00000328278.3	37	CCDS47184.1																																																																																			G|0.975;A|0.025		0.741	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		A	191992	G	A	191992	2	1	30	1	0	0	0	0	0	0	0	1	9004	1103	39	1		1	LRRC14B	5	191992	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		191992	180723268	73	5348											
ZDHHC11	79844	bcgsc.ca	37	chr5	801252	801252	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcagcactgtcagttttCatgggctctgttgtttcttg	9	9	5	0	rs142091140	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:801252C>T	ENST00000283441.8	-	12	1592	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M403I|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	403						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.M403I(2)		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)			TGTCAGTTTTCATGGGCTCTG	0.413																																					p.M403I		.											.	ZDHHC11-92	2	Substitution - Missense(2)	prostate(2)	c.G1209A						.	C	ILE/MET	6,4398		0,6,2196	147	108	121		1209	-0.4	0	5	dbSNP_134	121	6,8584		0,6,4289	no	missense	ZDHHC11	NM_024786.2	10	0,12,6485	TT,TC,CC		0.0698,0.1362,0.0924	benign	403/413	801252	12,12982	2202	4295	6497	SO:0001583	missense	79844	exon12			AGTTTTCATGGGC	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.1209G>A	5.37:g.801252C>T	ENSP00000283441:p.Met403Ile	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	237	18	NM_024786	0	0	3	3	0	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	6.779	0.512644	0.12944	0.001362	6.98E-4	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.36520	1.25;1.25	1.57	-0.362	0.12560	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.09377	0.004	T	0.29549	-1.0008	9	0.14656	T	0.56	-9.9532	3.9839	0.09507	0.0:0.5594:0.0:0.4406	.	403	Q9H8X9	ZDH11_HUMAN	I	403	ENSP00000397719:M403I;ENSP00000283441:M403I	ENSP00000283441:M403I	M	-	3	0	ZDHHC11	854252	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.366000	0.07563	-0.120000	0.11809	0.384000	0.25694	ATG	C|0.999;T|0.001		0.413	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		T	801252	C	T	801252	3	4	30	1	0	0	0	0	1	0	0	0	17649	826	29	3	33	3	ZDHHC11	5	801252	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	609260	801252	180114008	74	5349											
ADAMTS16	170690	hgsc.bcm.edu	37	chr5	5140632	5140632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcgctgtggatgctgTtggcgcaggtggccgagcag	20	9	0	0	rs270208	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:5140632T>C	ENST00000274181.7	+	1	190	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	CTD-2297D10.2_ENST00000512155.1_RNA|CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.L18L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18					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						GTGGATGCTGTTGGCGCAGGT	0.766													C|||	3127	0.624401	0.6747	0.6571	5008	,	,		8861	0.8065		0.501	False		,,,				2504	0.4724				p.L18L		.											.	ADAMTS16-275	0			c.T52C						.	C		2046,874		775,496,189	2	5	4		52	1.2	1	5	dbSNP_79	4	3653,3047		1121,1411,818	no	coding-synonymous	ADAMTS16	NM_139056.2		1896,1907,1007	CC,CT,TT		45.4776,29.9315,40.7588		18/1225	5140632	5699,3921	1460	3350	4810	SO:0001819	synonymous_variant	170690	exon1			ATGCTGTTGGCGC	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.52T>C	5.37:g.5140632T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			T|0.352;C|0.648		0.766	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5140632	T	C	5140632	2	2	30	1	0	0	0	0	0	0	0	1	261	1722	60	4		4	ADAMTS16	5	5140632	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	4339380	5140632	175774628	75	5350											
TRIO	7204	bcgsc.ca	37	chr5	14420027	14420027	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggtgtctggtgcggacAactgaccgctccccagcggc	14	14	1	1	rs30612	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:14420027A>C	ENST00000344204.4	+	34	5124	c.5100A>C	c.(5098-5100)acA>acC	p.T1700T	TRIO_ENST00000537187.1_Silent_p.T1700T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1700	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					TGGTGCGGACAACTGACCGCT	0.607													C|||	4100	0.81869	0.9864	0.8271	5008	,	,		19832	0.6984		0.8757	False		,,,				2504	0.6513				p.T1700T		.											.	TRIO-562	0			c.A5100C						.	C		4244,162	109.1+/-147.4	2041,162,0	50	46	47		5100	4.2	1	5	dbSNP_76	47	7409,1191	241.9+/-272.1	3186,1037,77	no	coding-synonymous	TRIO	NM_007118.2		5227,1199,77	CC,CA,AA		13.8488,3.6768,10.4029		1700/3098	14420027	11653,1353	2203	4300	6503	SO:0001819	synonymous_variant	7204	exon34			GCGGACAACTGAC	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.5100A>C	5.37:g.14420027A>C		Somatic	303	2		WXS	Illumina GAIIx	Phase_I	326	8	NM_007118	0	0	3	3	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			A|0.129;C|0.871		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		C	14420027	A	C	14420027	2	2	30	1	0	0	0	0	0	0	0	1	16600	117	5	5		5	TRIO	5	14420027	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	9279395	14420027	166495233	76	5351											
C7	730	broad.mit.edu;ucsc.edu	37	chr5	40959605	40959605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagcccctgtgtccaagGgaagaaaacaagaagccgtg	13	9	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:40959605G>A	ENST00000313164.9	+	12	1903	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	515	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				TGTGTCCAAGGGAAGAAAACA	0.502																																					p.G515E		.											.	C7-22	0			c.G1544A						.						54	60	58					5																	40959605		1897	4108	6005	SO:0001583	missense	730	exon12			TCCAAGGGAAGAA	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.1544G>A	5.37:g.40959605G>A	ENSP00000322061:p.Gly515Glu	Somatic	111	2		WXS	Illumina GAIIx	Phase_I	190	32	NM_000587	0	0	160	238	78	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851582	0.71719	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.83673	-1.75	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	M	0.87038	2.855	0.54753	D	0.999989	D	0.61080	0.989	P	0.60345	0.873	D	0.91296	0.5063	10	0.62326	D	0.03	-15.4759	12.7469	0.57285	0.0793:0.0:0.9207:0.0	.	515	P10643	CO7_HUMAN	E	515;355	ENSP00000322061:G515E	ENSP00000322061:G515E	G	+	2	0	C7	40995362	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.110000	0.57831	2.593000	0.87608	0.462000	0.41574	GGG	.		0.502	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40959605	G	A	40959605	3	1	30	1	0	0	0	0	1	0	0	0	2382	1232	43	3	1590	3	C7	5	40959605	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	26539578	40959605	139955655	77	5352											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	89986640	89986640	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agattactaaacttattgtaGaggaacctgagtttaactca	7	6	1	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:89986640G>T	ENST00000405460.2	+	31	6829	c.6733G>T	c.(6733-6735)Gag>Tag	p.E2245*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2245	Calx-beta 16. {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)		ACTTATTGTAGAGGAACCTGA	0.403																																					p.E2245X		.											.	GPR98-103	0			c.G6733T						.						44	42	42					5																	89986640		1863	4091	5954	SO:0001587	stop_gained	84059	exon31			ATTGTAGAGGAAC	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.6733G>T	5.37:g.89986640G>T	ENSP00000384582:p.Glu2245*	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	126	41	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	49	15.234895	0.99827	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.99	5.99	0.97316	.	0.088216	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.9647	0.79961	0.0:0.134:0.866:0.0	.	.	.	.	X	2245	.	ENSP00000296619:E2245X	E	+	1	0	GPR98	90022396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	2.850000	0.98022	0.650000	0.86243	GAG	.		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89986640	G	T	89986640	4	4	30	1	0	0	0	0	0	1	0	0	6748	943	33	3	6855	3	GPR98	5	89986640	Nonsense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	49027035	89986640	90928620	78	5353											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	30	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	42163044	132149684	48765576	79	5354											
SLC23A1	9963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	138714364	138714364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcagcaaatgccttcggtGaagatgcccctgtaaggaaa	11	9	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:138714364G>A	ENST00000348729.3	-	10	1129	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Silent_p.F365F	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	361					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|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)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGCCTTCGGTGAAGATGCCCC	0.592																																					p.F365F		.											.	SLC23A1-90	0			c.C1095T						.						55	45	49					5																	138714364		2203	4299	6502	SO:0001819	synonymous_variant	9963	exon10			TTCGGTGAAGATG	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1083C>T	5.37:g.138714364G>A		Somatic	157	0		WXS	Illumina GAIIx	Phase_I	239	24	NM_152685	0	0	0	0	0	O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.988|9.988	1.230069|1.230069	0.22542|0.22542	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000504513|ENST00000453898	.|.	.|.	.|.	4.71|4.71	1.75|1.75	0.24633|0.24633	.|.	.|.	.|.	.|.	.|.	T|T	0.31575|0.31575	0.0801|0.0801	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.04509|0.04509	-1.0946|-1.0946	4|5	.|0.08599	.|T	.|0.76	-8.1865|-8.1865	5.49|5.49	0.16771|0.16771	0.4934:0.0:0.5066:0.0|0.4934:0.0:0.5066:0.0	.|.	.|.	.|.	.|.	Y|L	108|316	.|.	.|ENSP00000406720:S316L	H|S	-|-	1|2	0|0	SLC23A1|SLC23A1	138742263|138742263	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.968000|0.968000	0.65278|0.65278	1.201000|1.201000	0.32259|0.32259	0.599000|0.599000	0.29845|0.29845	0.561000|0.561000	0.74099|0.74099	CAC|TCA	.		0.592	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		A	138714364	G	A	138714364	2	1	30	1	0	0	0	0	0	0	0	1	14507	1281	45	3		3	SLC23A1	5	138714364	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	6564680	138714364	42200896	80	5355											
NRG2	9542	hgsc.bcm.edu	37	chr5	139422602	139422602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctgtagctgctgcacCgacccttctccagtggcggc	12	15	1	0	rs188534354	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:139422602C>T	ENST00000361474.1	-	1	277	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	NRG2_ENST00000358522.3_Missense_Mutation_p.R18Q|NRG2_ENST00000289422.7_Missense_Mutation_p.R18Q|NRG2_ENST00000545385.1_Missense_Mutation_p.R18Q|NRG2_ENST00000289409.4_Missense_Mutation_p.R18Q|NRG2_ENST00000541337.1_Missense_Mutation_p.R18Q|NRG2_ENST00000394770.1_Missense_Mutation_p.R18Q	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	18					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gctgctgcACCGACCCTTCTC	0.701													C|||	11	0.00219649	8e-04	0.0072	5008	,	,		10461	0		0.005	False		,,,				2504	0				p.R18Q		.											.	NRG2-526	0			c.G53A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3008		0,0,1504	4	5	5		53,53,53,53,53	-2.4	1	5		5	9,6245		0,9,3118	no	missense,missense,missense,missense,missense	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	43,43,43,43,43	0,9,4622	TT,TC,CC		0.1439,0.0,0.0972	benign,benign,benign,benign,benign	18/853,18/859,18/845,18/851,18/785	139422602	9,9253	1504	3127	4631	SO:0001583	missense	9542	exon1			CTGCACCGACCCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.53G>A	5.37:g.139422602C>T	ENSP00000354910:p.Arg18Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	22	14	NM_013982	0	0	2	8	6		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	16	0.007326007326007326	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	14.46	2.542008	0.45280	0.0	0.001439	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000378238	T;T;T;T;T;T;T;T	0.75821	-0.72;-0.76;-0.72;-0.76;-0.97;-0.97;-0.76;-0.97	3.88	-2.44	0.06502	.	.	.	.	.	T	0.39145	0.1067	N	0.08118	0	0.27621	N	0.948338	B;B;B;B	0.23891	0.093;0.056;0.093;0.093	B;B;B;B	0.23275	0.045;0.02;0.045;0.045	T	0.27262	-1.0079	9	0.41790	T	0.15	-5.1631	16.7016	0.85350	0.0:0.3488:0.6512:0.0	.	18;18;18;18	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	Q	18	ENSP00000444235:R18Q;ENSP00000289422:R18Q;ENSP00000354910:R18Q;ENSP00000438753:R18Q;ENSP00000378251:R18Q;ENSP00000289409:R18Q;ENSP00000351323:R18Q;ENSP00000367483:R18Q	ENSP00000289409:R18Q	R	-	2	0	NRG2	139402786	0.998000	0.40836	0.996000	0.52242	0.989000	0.77384	0.158000	0.16422	-0.236000	0.09753	0.491000	0.48974	CGG	C|0.993;T|0.007		0.701	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139422602	C	T	139422602	3	4	30	1	0	0	0	0	1	0	0	0	10687	652	23	1	2630	1	NRG2	5	139422602	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	708238	139422602	41492658	81	5356											
PCDHGA4	56112	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	140737208	140737208	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgagtcaatcttataataGatcataccacactgaaatat	6	7	3	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:140737208G>A	ENST00000253812.6	+	1	2424				PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_5'Flank	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3						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)			TCTTATAATAGATCATACCAC	0.333																																					p.R814K		.											.	.	0			c.G2441A						.						33	34	34					5																	140737208		2018	4186	6204	SO:0001627	intron_variant	56111	exon1			ATAATAGATCATA	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.2424+11184G>A	5.37:g.140737208G>A		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	103	17	NM_032053	0	0	0	0	0	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.333	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		A	140737208	G	A	140737208	1	1	30	0	1	0	0	0	0	0	0	0	11595	942	33	3		3	PCDHGA4	5	140737208	Intron	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1314606	140737208	40178052	82	5357											
SLC26A2	1836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149360104	149360104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgccttttggttcttttGccaaccaaagaactcaatga	7	9	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr5:149360104G>C	ENST00000286298.4	+	3	1216	c.948G>C	c.(946-948)ttG>ttC	p.L316F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	316					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGTTCTTTTGCCAACCAAAG	0.418																																					p.L316F		.											.	SLC26A2-90	0			c.G948C						.						121	113	116					5																	149360104		2203	4300	6503	SO:0001583	missense	1836	exon3			TCTTTTGCCAACC	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.948G>C	5.37:g.149360104G>C	ENSP00000286298:p.Leu316Phe	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	108	48	NM_000112	0	0	8	15	7	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347635	0.41599	.	.	ENSG00000155850	ENST00000286298	D	0.94092	-3.35	5.51	3.62	0.41486	Sulphate transporter (1);	0.416682	0.25971	N	0.027135	D	0.91345	0.7270	N	0.26130	0.795	0.29543	N	0.851914	P	0.42620	0.785	P	0.57720	0.826	D	0.85767	0.1353	10	0.46703	T	0.11	.	4.5081	0.11898	0.086:0.2392:0.5512:0.1237	.	316	P50443	S26A2_HUMAN	F	316	ENSP00000286298:L316F	ENSP00000286298:L316F	L	+	3	2	SLC26A2	149340297	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	0.561000	0.23515	1.321000	0.45227	0.585000	0.79938	TTG	.		0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		C	149360104	G	C	149360104	3	2	30	1	0	0	0	0	1	0	0	0	14562	1310	46	3	954	3	SLC26A2	5	149360104	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	8622896	149360104	31555156	83	5358											
HIST1H3H	8357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27777856	27777856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctagctctgaaggcatggCgcgtacgaagcagactgctc	12	11	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:27777856C>G	ENST00000369163.2	+	1	15	c.5C>G	c.(4-6)gCg>gGg	p.A2G	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	2					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)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GAAGGCATGGCGCGTACGAAG	0.577																																					p.A2G		.											.	HIST1H3H-45	0			c.C5G						.						40	44	43					6																	27777856		2200	4299	6499	SO:0001583	missense	8357	exon1			GCATGGCGCGTAC	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.5C>G	6.37:g.27777856C>G	ENSP00000358160:p.Ala2Gly	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	240	52	NM_003536	0	0	3	3	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	14.21	2.468441	0.43839	.	.	ENSG00000203813	ENST00000369163	T	0.50813	0.73	4.18	4.18	0.49190	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.42331	D	0.992298	.	.	.	.	.	.	T	0.65245	-0.6215	6	0.87932	D	0	.	16.3581	0.83244	0.0:1.0:0.0:0.0	.	.	.	.	G	2	ENSP00000358160:A2G	ENSP00000358160:A2G	A	+	2	0	HIST1H3H	27885835	1.000000	0.71417	0.941000	0.38009	0.006000	0.05464	7.373000	0.79623	2.258000	0.74832	0.655000	0.94253	GCG	.		0.577	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		G	27777856	C	G	27777856	3	3	30	1	0	0	0	0	1	0	0	0	7189	768	27	2	7	2	HIST1H3H	6	27777856	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		27777856	143337211	84	5359											
ABCF1	23	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	30557635	30557635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgcgcatggaggagaCgcccactgagtacctgcagc	14	13	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:30557635C>T	ENST00000326195.8	+	22	2229	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M	ABCF1_ENST00000376545.3_Missense_Mutation_p.T668M|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	706	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ATGGAGGAGACGCCCACTGAG	0.602																																					p.T706M		.											.	ABCF1-92	0			c.C2117T						.						96	104	101					6																	30557635		1511	2709	4220	SO:0001583	missense	23	exon22			AGGAGACGCCCAC	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2117C>T	6.37:g.30557635C>T	ENSP00000313603:p.Thr706Met	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	154	47	NM_001025091	0	0	30	61	31	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.921841	0.92319	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.95205	-3.64;-3.64	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047152	0.85682	D	0.000000	D	0.97467	0.9171	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	D	0.97607	1.0127	10	0.87932	D	0	-19.5814	19.1419	0.93449	0.0:1.0:0.0:0.0	.	668;706	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	M	706;668	ENSP00000313603:T706M;ENSP00000365728:T668M	ENSP00000313603:T706M	T	+	2	0	ABCF1	30665614	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	7.067000	0.76741	2.821000	0.97095	0.651000	0.88453	ACG	.		0.602	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			T	30557635	C	T	30557635	3	4	30	1	0	0	0	0	1	0	0	0	65	536	19	1	2203	1	ABCF1	6	30557635	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2779779	30557635	140557432	85	5360											
KIAA1949	170954	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	30652252	30652252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagacggaggtagccccccAgaaccaagatctcctcggca	11	14	1	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:30652252A>G	ENST00000274853.3	-	1	3420	c.1544T>C	c.(1543-1545)cTg>cCg	p.L515P	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.L515P	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	515						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTAGCCCCCCAGAACCAAGAT	0.622																																					p.L515P		.											.	.	0			c.T1544C						.						51	55	54					6																	30652252		1222	2545	3767	SO:0001583	missense	170954	exon2			CCCCCCAGAACCA	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1544T>C	6.37:g.30652252A>G	ENSP00000274853:p.Leu515Pro	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	135	9	NM_001134870	1	0	39	42	2	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667445	0.67814	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.27890	1.64;1.64	4.52	4.52	0.55395	.	0.236224	0.27447	N	0.019327	T	0.37183	0.0994	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.74348	0.983	T	0.26780	-1.0093	10	0.72032	D	0.01	-1.1683	11.4972	0.50415	1.0:0.0:0.0:0.0	.	515	Q6NYC8	PPR18_HUMAN	P	515	ENSP00000274853:L515P;ENSP00000382150:L515P	ENSP00000274853:L515P	L	-	2	0	KIAA1949	30760231	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.093000	0.71422	1.909000	0.55274	0.533000	0.62120	CTG	.		0.622	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		G	30652252	A	G	30652252	3	3	30	1	0	0	0	0	1	0	0	0	8290	188	7	4	309	4	KIAA1949	6	30652252	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	94617	30652252	140462815	86	5361											
TNXB	7148	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32023746	32023746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctcgctctcctcgccCctgacacgcatcacctgggg	10	18	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:32023746C>A	ENST00000375244.3	-	24	8550	c.8349G>T	c.(8347-8349)agG>agT	p.R2783S	TNXB_ENST00000375247.2_Missense_Mutation_p.R2783S			P22105	TENX_HUMAN	tenascin XB	2841					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCTCGCCCCTGACACGCA	0.682																																					p.R2783S		.											.	TNXB-90	0			c.G8349T						.						58	64	62					6																	32023746		1261	2546	3807	SO:0001583	missense	7148	exon24			CTCGCCCCTGACA	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8349G>T	6.37:g.32023746C>A	ENSP00000364393:p.Arg2783Ser	Somatic	104	2		WXS	Illumina GAIIx	Phase_I	384	116	NM_019105	0	0	0	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	2.826	-0.243789	0.05906	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.03951	3.75;3.75	5.04	1.0	0.19881	.	.	.	.	.	T	0.00608	0.0020	N	0.11427	0.14	0.20307	N	0.999916	B	0.19331	0.035	B	0.22386	0.039	T	0.46034	-0.9220	9	0.07644	T	0.81	.	4.6157	0.12424	0.1464:0.5336:0.0:0.3199	.	2783	P22105-3	.	S	2783	ENSP00000364393:R2783S;ENSP00000364396:R2783S	ENSP00000364393:R2783S	R	-	3	2	TNXB	32131724	0.000000	0.05858	0.871000	0.34182	0.439000	0.31926	-1.604000	0.02076	0.115000	0.18071	0.462000	0.41574	AGG	.		0.682	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32023746	C	A	32023746	3	1	30	1	0	0	0	0	1	0	0	0	16393	622	22	3	6448	3	TNXB	6	32023746	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1371494	32023746	139091321	87	5362											
NOTCH4	4855	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	32166298	32166298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccaccactcagagaCcagagctggcacgtggaggg	13	14	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:32166298C>A	ENST00000375023.3	-	26	4794	c.4656G>T	c.(4654-4656)tgG>tgT	p.W1552C	NOTCH4_ENST00000443903.2_5'Flank|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1552					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						CACTCAGAGACCAGAGCTGGC	0.587																																					p.W1552C		.											.	NOTCH4-1321	0			c.G4656T						.						83	63	70					6																	32166298		1511	2709	4220	SO:0001583	missense	4855	exon26			CAGAGACCAGAGC		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.4656G>T	6.37:g.32166298C>A	ENSP00000364163:p.Trp1552Cys	Somatic	93	2		WXS	Illumina GAIIx	Phase_I	132	31	NM_004557	0	0	5	5	0	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614397	0.46631	.	.	ENSG00000204301	ENST00000375023	D	0.83250	-1.7	5.16	4.28	0.50868	.	0.170807	0.28618	N	0.014702	T	0.77824	0.4188	M	0.86028	2.79	0.80722	D	1	B;B	0.19706	0.038;0.011	B;B	0.23419	0.046;0.01	T	0.80384	-0.1405	10	0.87932	D	0	.	10.982	0.47499	0.1859:0.8141:0.0:0.0	.	1552;1551	Q99466;B0S882	NOTC4_HUMAN;.	C	1552	ENSP00000364163:W1552C	ENSP00000364163:W1552C	W	-	3	0	NOTCH4	32274276	0.987000	0.35691	0.976000	0.42696	0.611000	0.37282	1.909000	0.39917	1.396000	0.46663	0.561000	0.74099	TGG	.		0.587	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32166298	C	A	32166298	3	1	30	1	0	0	0	0	1	0	0	0	10590	508	18	3	1375	3	NOTCH4	6	32166298	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	142552	32166298	138948769	88	5363											
CUTA	8831	broad.mit.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	33385930	33385931	+	5'Flank	DNP	GC	GC	AG													gtagaagaaggaccacctgcGcctccagagccagccaatcc							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	|C	|C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:33385930_33385931GC>AG	ENST00000418600.2	+	0	0				SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000492510.1_5'UTR|CUTA_ENST00000440279.3_5'Flank|CUTA_ENST00000374496.3_5'Flank|CUTA_ENST00000607266.1_5'Flank|CUTA_ENST00000488478.1_5'Flank|CUTA_ENST00000494751.1_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.G11A|CUTA_ENST00000488034.1_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACCACCTGCGCCTCCAGAGCC	0.574																																					p.G11G|p.G11A		.											.	CUTA-90	0			c.C33T|c.G32C						.																																			SO:0001631	upstream_gene_variant	51596	exon1			ACCTGCGCCTCCA|CCTGCGCCTCCAG	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	Exception_encountered	6.37:g.33385930_33385931delinsAG	Exception_encountered	Somatic	137|138	2|0		WXS	Illumina GAIIx	Phase_I	227|225	19|18	NM_001014433	1|0	2|0	9|7	12|7	0	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent|Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																			.		0.574	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		AG	33385931	GC	AG	33385930	1	1	30	0	1	0	0	0	0	0	0	0	4071	1074	38	1		1	CUTA	6	33385930	5'Flank	DNP	GC	TCGA-OR-A5K9-01A-11D-A29I-10	1219632	33385930	137729137	89	5364											
PPARD	5467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	35388052	35388052	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcatgcatgtgagggGtgcaaggtacggactggggg	20	5	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:35388052G>T	ENST00000311565.4	+	5	628	c.279G>T	c.(277-279)ggG>ggT	p.G93G	PPARD_ENST00000360694.3_Silent_p.G93G|PPARD_ENST00000448077.2_Silent_p.G54G|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Silent_p.G93G|PPARD_ENST00000337400.2_Silent_p.G93G|PPARD_ENST00000540939.1_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	93					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)	CATGTGAGGGGTGCAAGGTAC	0.632																																					p.G93G		.											.	PPARD-187	0			c.G279T						.						79	63	69					6																	35388052		2203	4300	6503	SO:0001819	synonymous_variant	5467	exon5			TGAGGGGTGCAAG	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.279G>T	6.37:g.35388052G>T		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	91	42	NM_001171818	0	0	0	0	0	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	CCDS4803.1																																																																																			.		0.632	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		T	35388052	G	T	35388052	2	4	30	1	0	0	0	0	0	0	0	1	12337	1248	44	3		3	PPARD	6	35388052	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	2002122	35388052	135727015	90	5365											
KCNK16	83795	bcgsc.ca	37	chr6	39282806	39282806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcctttcttggatatgGggaagtcctggggtgtgact	14	8	1	1	rs11756091	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:39282806G>T	ENST00000373229.5	-	6	915	c.902C>A	c.(901-903)cCc>cAc	p.P301H	KCNK16_ENST00000425054.2_3'UTR|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000507712.1_Missense_Mutation_p.P189H|KCNK16_ENST00000373227.4_Missense_Mutation_p.P254H|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	301			P -> H (in dbSNP:rs11756091). {ECO:0000269|PubMed:12724142, ECO:0000269|Ref.5}.		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						CTTGGATATGGGGAAGTCCTG	0.597													G|||	2926	0.584265	0.8858	0.4597	5008	,	,		17592	0.4663		0.4911	False		,,,				2504	0.4826				p.P301H		.											.	KCNK16-229	0			c.C902A						.	G	,HIS/PRO,HIS/PRO	3665,741	757.0+/-412.7	1522,621,60	154	139	144		,761,902	0.1	0	6	dbSNP_120	144	4308,4292	577.2+/-390.5	1085,2138,1077	yes	utr-3,missense,missense	KCNK16	NM_001135105.1,NM_001135107.1,NM_032115.3	,77,77	2607,2759,1137	TT,TG,GG		49.907,16.818,38.6975	,,	,254/263,301/310	39282806	7973,5033	2203	4300	6503	SO:0001583	missense	83795	exon6			GATATGGGGAAGT	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.902C>A	6.37:g.39282806G>T	ENSP00000362326:p.Pro301His	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	170	7	NM_032115	0	0	0	0	0	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	1220	0.5586080586080586	431	0.8760162601626016	176	0.4861878453038674	244	0.42657342657342656	369	0.4868073878627968	G	7.249	0.602823	0.13939	0.83182	0.50093	ENSG00000095981	ENST00000373229;ENST00000507712;ENST00000373227	T;T;T	0.21932	2.45;1.98;2.61	2.67	0.0928	0.14474	.	615.362000	0.00166	N	0.000000	T	0.04543	0.0124	N	0.24115	0.695	0.80722	P	0.0	B;B	0.13145	0.007;0.0	B;B	0.04013	0.001;0.0	T	0.34153	-0.9840	9	0.62326	D	0.03	.	2.6835	0.05101	0.5545:0.2757:0.1698:0.0	rs11756091;rs60729146;rs11756091	254;301	Q96T55-5;Q96T55	.;KCNKG_HUMAN	H	301;189;254	ENSP00000362326:P301H;ENSP00000423842:P189H;ENSP00000362324:P254H	ENSP00000362324:P254H	P	-	2	0	KCNK16	39390784	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.535000	0.06142	0.017000	0.15025	-0.373000	0.07131	CCC	G|0.400;T|0.600		0.597	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39282806	G	T	39282806	3	4	30	1	0	0	0	0	1	0	0	0	8090	1232	43	3	31	3	KCNK16	6	39282806	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	3894754	39282806	131832261	91	5366											
UNC5CL	222643	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41002645	41002645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattttctagttggggggTaggctgggacactggttcct	14	8	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:41002645T>G	ENST00000373164.1	-	1	229	c.169A>C	c.(169-171)Acc>Ccc	p.T57P	UNC5CL_ENST00000244565.3_Missense_Mutation_p.T57P|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	57					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTTGGGGGGTAGGCTGGGAC	0.582																																					p.T57P		.											.	UNC5CL-92	0			c.A169C						.						133	120	124					6																	41002645		2203	4300	6503	SO:0001583	missense	222643	exon2			GGGGGGTAGGCTG	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.169A>C	6.37:g.41002645T>G	ENSP00000362258:p.Thr57Pro	Somatic	83	2		WXS	Illumina GAIIx	Phase_I	121	30	NM_173561	0	0	1	1	0	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	T	2.525	-0.309755	0.05458	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14766	2.48;2.48	4.49	-3.08	0.05347	.	2.021940	0.01995	N	0.045847	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	B	0.22604	0.072	B	0.20384	0.029	T	0.38950	-0.9637	10	0.30078	T	0.28	2.3943	0.036	0.00007	0.3041:0.1991:0.1759:0.321	.	57	Q8IV45	UN5CL_HUMAN	P	57	ENSP00000244565:T57P;ENSP00000362258:T57P	ENSP00000244565:T57P	T	-	1	0	UNC5CL	41110623	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.912000	0.04046	-0.314000	0.08716	-0.376000	0.06991	ACC	.		0.582	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		G	41002645	T	G	41002645	3	3	30	1	0	0	0	0	1	0	0	0	17043	1638	57	5	1419	5	UNC5CL	6	41002645	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1719839	41002645	130112422	92	5367											
RCAN2	10231	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	46214635	46214635	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaagtgcagtttgtctcCatctgtctctggagtctgaa	10	10	4	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:46214635C>A	ENST00000330430.6	-	3	471	c.283G>T	c.(283-285)Gga>Tga	p.G95*	RCAN2_ENST00000306764.7_Nonsense_Mutation_p.G141*|RCAN2_ENST00000371374.1_Nonsense_Mutation_p.G141*|RCAN2_ENST00000405162.1_Nonsense_Mutation_p.G141*	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	95					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGTTTGTCTCCATCTGTCTCT	0.493																																					p.G141X		.											.	RCAN2-90	0			c.G421T						.						76	82	80					6																	46214635		1954	4139	6093	SO:0001587	stop_gained	10231	exon4			TGTCTCCATCTGT	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"Down syndrome critical region gene 1-like 1"	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.283G>T	6.37:g.46214635C>A	ENSP00000329454:p.Gly95*	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	98	5	NM_001251973	0	0	2	2	0	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Nonsense_Mutation	SNP	ENST00000330430.6	37	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	C	38	6.673242	0.97751	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5568	18.8222	0.92102	0.0:1.0:0.0:0.0	.	.	.	.	X	95;141;141;141	.	ENSP00000305223:G141X	G	-	1	0	RCAN2	46322594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.628000	0.67791	2.703000	0.92315	0.585000	0.79938	GGA	.		0.493	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			A	46214635	C	A	46214635	4	1	30	1	0	0	0	0	0	1	0	0	13214	603	21	3	318	3	RCAN2	6	46214635	Nonsense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	5211990	46214635	124900432	93	5368											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51524734	51524734	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccttgcatcagaaatTggtatgtacatttctgttct	7	7	3	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:51524734T>A	ENST00000371117.3	-	61	10465	c.10190A>T	c.(10189-10191)cAa>cTa	p.Q3397L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3397					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)					CATCAGAAATTGGTATGTACA	0.338																																					p.Q3397L		.											.	PKHD1-603	0			c.A10190T						.						46	40	42					6																	51524734		2203	4300	6503	SO:0001583	missense	5314	exon61			AGAAATTGGTATG	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.10190A>T	6.37:g.51524734T>A	ENSP00000360158:p.Gln3397Leu	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	79	30	NM_138694	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	3.112	-0.182510	0.06340	.	.	ENSG00000170927	ENST00000371117	D	0.85629	-2.01	5.48	0.865	0.19074	.	0.908841	0.09213	N	0.833000	T	0.47303	0.1438	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.37686	-0.9695	10	0.15499	T	0.54	.	9.5625	0.39378	0.0:0.5065:0.0:0.4935	.	3397	P08F94	PKHD1_HUMAN	L	3397	ENSP00000360158:Q3397L	ENSP00000360158:Q3397L	Q	-	2	0	PKHD1	51632693	0.011000	0.17503	0.112000	0.21494	0.096000	0.18686	-0.056000	0.11787	-0.051000	0.13334	-0.146000	0.13790	CAA	.		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51524734	T	A	51524734	3	1	30	1	0	0	0	0	1	0	0	0	12010	1812	63	5	2062	5	PKHD1	6	51524734	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	5310099	51524734	119590333	94	5369											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	6	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	30	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	47758642	99283376	71831691	95	5370											
REV3L	5980	hgsc.bcm.edu;bcgsc.ca	37	chr6	111693904	111693904	+	Frame_Shift_Del	DEL	G	G	-													ccataatttcttccctacttGggggggacataagtggtttc							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:111693904delG	ENST00000358835.3	-	14	6108	c.5654delC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000435970.1_Frame_Shift_Del_p.P1807fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P1885fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				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)		TTCCCTACTTGGGGGGGACAT	0.428								DNA polymerases (catalytic subunits)																													p.P1885fs		.											.	REV3L-294	0			c.5654delC						.						153	162	159					6																	111693904		2203	4300	6503	SO:0001589	frameshift_variant	5980	exon13			CTACTTGGGGGGG	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.5654delC	6.37:g.111693904delG	ENSP00000351697:p.Pro1885fs	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	127	56	NM_002912	0	0	0	0	0	O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	CCDS5091.2																																																																																			.		0.428	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		-	111693904	G	-	111693904	7	5	30	1	0	1	0	1	0	0	0	0	13285	1348	47	0	3818	0	REV3L	6	111693904	Frame_Shift_Del	DEL	G	TCGA-OR-A5K9-01A-11D-A29I-10	12410528	111693904	59421163	96	5371											
MCM9	254394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	119252669	119252669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattgtcaaggctgaccttcGcagtgcactatcaaaaattg	8	9	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:119252669G>C	ENST00000316316.6	-	2	506	c.220C>G	c.(220-222)Cga>Gga	p.R74G	MCM9_ENST00000316068.3_Missense_Mutation_p.R74G	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	74					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GCTGACCTTCGCAGTGCACTA	0.433																																					p.R74G		.											.	MCM9-515	0			c.C220G						.						108	99	102					6																	119252669		2203	4300	6503	SO:0001583	missense	254394	exon1			ACCTTCGCAGTGC	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.220C>G	6.37:g.119252669G>C	ENSP00000314505:p.Arg74Gly	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	181	115	NM_017696	0	0	1	1	0	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717419	0.30413	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154;ENST00000505446	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	5.91	1.6	0.23607	.	.	.	.	.	T	0.02767	0.0083	M	0.69823	2.125	0.20307	N	0.999914	B	0.23990	0.095	B	0.22753	0.041	T	0.41840	-0.9486	9	0.20046	T	0.44	.	16.9837	0.86335	0.0:0.0:0.5588:0.4412	.	74	Q9NXL9-2	.	G	74	ENSP00000314505:R74G;ENSP00000312870:R74G;ENSP00000394776:R74G;ENSP00000426890:R74G	ENSP00000312870:R74G	R	-	1	2	MCM9	119294368	0.995000	0.38212	0.323000	0.25347	0.718000	0.41266	2.607000	0.46300	0.371000	0.24564	0.655000	0.94253	CGA	.		0.433	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		C	119252669	G	C	119252669	3	2	30	1	0	0	0	0	1	0	0	0	9432	1095	38	2	979	2	MCM9	6	119252669	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7558765	119252669	51862398	97	5372											
KIAA1244	57221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	138531144	138531144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccgtgaaagtgacgccttCgctcaacgaggacctgcagg	13	12	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:138531144C>T	ENST00000251691.4	+	4	483	c.317C>T	c.(316-318)tCg>tTg	p.S106L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGACGCCTTCGCTCAACGAG	0.512																																					p.S106L		.											.	KIAA1244-228	0			c.C317T						.						166	129	141					6																	138531144		2203	4300	6503	SO:0001583	missense	57221	exon4			CGCCTTCGCTCAA	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.317C>T	6.37:g.138531144C>T	ENSP00000251691:p.Ser106Leu	Somatic	362	0		WXS	Illumina GAIIx	Phase_I	681	223	NM_020340	0	0	0	0	0		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471243	0.63625	.	.	ENSG00000112379	ENST00000251691	T	0.19938	2.11	5.71	4.81	0.61882	.	0.418879	0.26800	N	0.022433	T	0.07279	0.0184	L	0.41824	1.3	0.44447	D	0.997374	P	0.39737	0.685	B	0.25405	0.06	T	0.07347	-1.0777	10	0.72032	D	0.01	-21.8816	12.6484	0.56748	0.0:0.9161:0.0:0.0839	.	106	Q5TH69	BIG3_HUMAN	L	106	ENSP00000251691:S106L	ENSP00000251691:S106L	S	+	2	0	KIAA1244	138572837	0.657000	0.27393	0.951000	0.38953	0.995000	0.86356	1.998000	0.40796	1.327000	0.45338	0.555000	0.69702	TCG	.		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138531144	C	T	138531144	3	4	30	1	0	0	0	0	1	0	0	0	8244	893	31	1	331	1	KIAA1244	6	138531144	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	19278475	138531144	32583923	98	5373											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000606915.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000546019.1_Intron	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_032832	0	0	0	1	1	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	30	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	11653738	150184882	20930185	99	5374											
KIF25	3834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	168442715	168442715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagggcaggaaggagccGcagagcttctcaaggggcct	17	9	1	1	rs536727400		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr6:168442715G>A	ENST00000443060.2	+	8	1104	c.713G>A	c.(712-714)cGc>cAc	p.R238H	KIF25_ENST00000351261.3_Missense_Mutation_p.R238H|KIF25_ENST00000354419.2_Missense_Mutation_p.R238H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAAGGAGCCGCAGAGCTTCT	0.647													G|||	1	0.000199681	0	0	5008	,	,		16301	0.001		0	False		,,,				2504	0				p.R238H		.											.	KIF25-92	0			c.G713A						.						31	29	30					6																	168442715		2122	4155	6277	SO:0001583	missense	3834	exon7			GGAGCCGCAGAGC	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.713G>A	6.37:g.168442715G>A	ENSP00000388878:p.Arg238His	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	399	128	NM_030615	0	0	0	0	0	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	3.015	-0.203086	0.06180	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.74002	-0.8;-0.8;-0.04	1.89	-3.79	0.04320	Kinesin, motor domain (3);	7.429810	0.00166	N	0.000001	T	0.47507	0.1449	L	0.31371	0.925	0.09310	N	1	B;D	0.64830	0.051;0.994	B;P	0.53266	0.011;0.722	T	0.53380	-0.8447	10	0.36615	T	0.2	0.0379	0.7832	0.01044	0.2662:0.3333:0.2294:0.1711	.	238;238	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	H	238	ENSP00000388878:R238H;ENSP00000346401:R238H;ENSP00000252688:R238H	ENSP00000252688:R238H	R	+	2	0	KIF25	168185564	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.289000	0.18957	-1.608000	0.01587	0.411000	0.27672	CGC	.		0.647	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168442715	G	A	168442715	3	1	30	1	0	0	0	0	1	0	0	0	8320	1087	38	1	735	1	KIF25	6	168442715	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	18257833	168442715	2672352	100	5375											
ABCB5	340273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20782576	20782576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagatgttttcatcctccGtggcttatccctcagtattg	7	13	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:20782576G>A	ENST00000404938.2	+	25	3753	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R589H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1034	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCATCCTCCGTGGCTTATCC	0.458																																					p.R1034H		.											.	ABCB5-158	0			c.G3101A						.						133	125	128					7																	20782576		2203	4300	6503	SO:0001583	missense	340273	exon25			TCCTCCGTGGCTT	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.3101G>A	7.37:g.20782576G>A	ENSP00000384881:p.Arg1034His	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	252	98	NM_001163941	0	0	0	0	0	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773309	0.16051	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93859	-3.3;-3.3	4.96	-5.46	0.02608	ABC transporter-like (1);	0.768603	0.11418	N	0.566043	T	0.82098	0.4963	N	0.10760	0.04	0.09310	N	1	B;B	0.16166	0.014;0.016	B;B	0.15870	0.009;0.014	T	0.68538	-0.5382	10	0.62326	D	0.03	.	9.4413	0.38670	0.6266:0.0:0.2708:0.1026	.	1034;589	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1034;589	ENSP00000384881:R1034H;ENSP00000258738:R589H	ENSP00000258738:R589H	R	+	2	0	ABCB5	20749101	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.042000	0.13949	-0.791000	0.04486	-0.827000	0.03088	CGT	.		0.458	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20782576	G	A	20782576	3	1	30	1	0	0	0	0	1	0	0	0	44	1145	40	1	3236	1	ABCB5	7	20782576	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		20782576	138356087	101	5376											
NPVF	64111	ucsc.edu;bcgsc.ca	37	chr7	25267934	25267934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttacctcagaatatttgTcataattttctttgctgtga	5	7	3	2	rs877834	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:25267934T>C	ENST00000222674.2	-	1	171	c.125A>G	c.(124-126)gAc>gGc	p.D42G		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	42			D -> G (in dbSNP:rs877834). {ECO:0000269|PubMed:11951088}.		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						AGAATATTTGTCATAATTTTC	0.279													T|||	1238	0.247204	0.0908	0.2594	5008	,	,		18226	0.5129		0.1849	False		,,,				2504	0.2403				p.D42G		.											.	NPVF-91	0			c.A125G						.	T	GLY/ASP	482,3916	217.8+/-236.0	32,418,1749	54	60	58		125	0.3	0	7	dbSNP_86	58	1574,7004	291.3+/-300.3	141,1292,2856	yes	missense	NPVF	NM_022150.3	94	173,1710,4605	CC,CT,TT		18.3493,10.9595,15.8446	benign	42/197	25267934	2056,10920	2199	4289	6488	SO:0001583	missense	64111	exon1			TATTTGTCATAAT	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.125A>G	7.37:g.25267934T>C	ENSP00000222674:p.Asp42Gly	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	65	7	NM_022150	0	0	0	0	0	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	572	0.2619047619047619	44	0.08943089430894309	92	0.2541436464088398	293	0.5122377622377622	143	0.18865435356200527	T	8.124	0.781553	0.16120	0.109595	0.183493	ENSG00000105954	ENST00000222674	T	0.30981	1.51	5.57	0.266	0.15617	.	0.473353	0.19711	N	0.107806	T	0.00012	0.0000	L	0.54908	1.71	0.58432	P	1.0000000000287557E-6	B	0.11235	0.004	B	0.11329	0.006	T	0.43310	-0.9399	9	0.35671	T	0.21	-12.9291	4.4368	0.11554	0.0:0.281:0.1623:0.5567	rs877834;rs1130038;rs3177707;rs3188502;rs16873801;rs17412537;rs57473358;rs877834	42	Q9HCQ7	RFRP_HUMAN	G	42	ENSP00000222674:D42G	ENSP00000222674:D42G	D	-	2	0	NPVF	25234459	0.091000	0.21658	0.004000	0.12327	0.871000	0.50021	0.069000	0.14552	0.085000	0.17107	0.528000	0.53228	GAC	C|0.206;N|0.000		0.279	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		C	25267934	T	C	25267934	3	2	30	1	0	0	0	0	1	0	0	0	10644	1667	58	4	477	4	NPVF	7	25267934	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	4485358	25267934	133870729	102	5377											
NPSR1	387129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	34698162	34698162	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatggggttccttctactaCtcctttaaggtaagtttctt	8	8	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:34698162C>G	ENST00000360581.1	+	1	266	c.138C>G	c.(136-138)taC>taG	p.Y46*	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Nonsense_Mutation_p.Y46*|NPSR1_ENST00000531252.1_Nonsense_Mutation_p.Y46*|NPSR1_ENST00000381539.3_Nonsense_Mutation_p.Y46*|NPSR1_ENST00000465305.1_Nonsense_Mutation_p.Y46*|NPSR1_ENST00000381553.3_Nonsense_Mutation_p.Y46*|NPSR1_ENST00000359791.1_Nonsense_Mutation_p.Y46*|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	46						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTTCTACTACTCCTTTAAGG	0.458																																					p.Y46X		.											.	NPSR1-94	0			c.C138G						.						132	127	128					7																	34698162		2203	4300	6503	SO:0001587	stop_gained	387129	exon1			CTACTACTCCTTT	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.138C>G	7.37:g.34698162C>G	ENSP00000353788:p.Tyr46*	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	209	56	NM_207172	0	0	0	0	0	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Nonsense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509603	0.96386	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	.	.	.	4.53	-1.84	0.07809	.	0.454020	0.18442	N	0.141102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8184	1.0424	0.01562	0.1511:0.3432:0.1476:0.3582	.	.	.	.	X	46	.	ENSP00000352839:Y46X	Y	+	3	2	NPSR1	34664687	0.718000	0.27976	0.979000	0.43373	0.981000	0.71138	-0.660000	0.05317	-0.253000	0.09514	-0.766000	0.03442	TAC	.		0.458	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		G	34698162	C	G	34698162	4	3	30	1	0	0	0	0	0	1	0	0	10639	576	20	3	140	3	NPSR1	7	34698162	Nonsense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	9430228	34698162	124440501	103	5378											
AEBP1	165	broad.mit.edu;bcgsc.ca	37	chr7	44150789	44150789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacagaatgaggtggtggCcaccgatgacctggatttcc	13	11	0	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:44150789C>A	ENST00000223357.3	+	14	1972	c.1667C>A	c.(1666-1668)gCc>gAc	p.A556D	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.A131D	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	556	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGGTGGTGGCCACCGATGAC	0.622																																					p.A556D		.											.	AEBP1-90	0			c.C1667A						.						65	63	64					7																	44150789		2203	4300	6503	SO:0001583	missense	165	exon14			TGGTGGCCACCGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1667C>A	7.37:g.44150789C>A	ENSP00000223357:p.Ala556Asp	Somatic	179	1		WXS	Illumina GAIIx	Phase_I	327	20	NM_001129	0	0	6	6	0	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444161	0.63067	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95103	-3.61;-3.02	5.51	3.65	0.41850	.	0.481260	0.23866	N	0.043791	D	0.87277	0.6137	N	0.22421	0.69	0.25256	N	0.989638	B;P	0.43352	0.413;0.804	B;B	0.34301	0.098;0.179	T	0.79193	-0.1904	10	0.45353	T	0.12	-19.7903	10.6368	0.45569	0.0:0.7938:0.1333:0.0729	.	131;556	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	D	556;131	ENSP00000223357:A556D;ENSP00000398878:A131D	ENSP00000223357:A556D	A	+	2	0	AEBP1	44117314	0.031000	0.19500	0.994000	0.49952	0.896000	0.52359	3.080000	0.50112	0.653000	0.30826	0.555000	0.69702	GCC	.		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44150789	C	A	44150789	3	1	30	1	0	0	0	0	1	0	0	0	349	739	26	3	1721	3	AEBP1	7	44150789	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	9452627	44150789	114987874	104	5379											
RAMP3	10268	hgsc.bcm.edu	37	chr7	45197433	45197433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcggccggccagccatggaGactggagcgctgcggcgccc	17	15	0	1	rs67477213	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000496212.1_Silent_p.E2E|RAMP3_ENST00000481345.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					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)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3	3	3		6	2	0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	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.6G>A	7.37:g.45197433G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	18	NM_005856	0	0	1	1	0	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45197433	G	A	45197433	2	1	30	1	0	0	0	0	0	0	0	1	13068	933	33	3		3	RAMP3	7	45197433	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1046644	45197433	113941230	105	5380											
PTCD1	26024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	99032679	99032679	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcccaggctgcccgTgttttcctgacgctcctggc	12	15	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:99032679T>A	ENST00000292478.4	-	2	437	c.187A>T	c.(187-189)Acg>Tcg	p.T63S	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112S|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.T112S|PTCD1_ENST00000485746.1_5'Flank	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	63					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCTGCCCGTGTTTTCCTGA	0.642																																					p.T112S		.											.	.	0			c.A334T						.						31	33	32					7																	99032679		2203	4300	6503	SO:0001583	missense	100526740	exon3			TGCCCGTGTTTTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.187A>T	7.37:g.99032679T>A	ENSP00000292478:p.Thr63Ser	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	66	18	NM_001198879	0	0	1	2	1	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646156	0.29246	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	T;T;D;D;D;T;T	0.82893	-0.05;-0.04;-1.63;-1.63;-1.66;-1.14;-0.04	5.84	-0.519	0.11939	.	1.068260	0.07170	N	0.852240	T	0.74974	0.3787	M	0.62723	1.935	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.09377	0.004;0.002	T	0.52990	-0.8501	10	0.10902	T	0.67	-0.1642	4.3356	0.11085	0.15:0.3507:0.0:0.4992	.	112;63	G3V325;O75127	.;PTCD1_HUMAN	S	63;112;63;63;63;63;112	ENSP00000292478:T63S;ENSP00000450995:T112S;ENSP00000390530:T63S;ENSP00000408059:T63S;ENSP00000401600:T63S;ENSP00000410697:T63S;ENSP00000400168:T112S	ENSP00000400168:T112S	T	-	1	0	ATP5J2-PTCD1;PTCD1	98870615	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.269000	0.08596	0.116000	0.18110	0.460000	0.39030	ACG	.		0.642	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99032679	T	A	99032679	3	1	30	1	0	0	0	0	1	0	0	0	12769	1696	59	5	1943	5	PTCD1	7	99032679	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	53835246	99032679	60105984	106	5381											
MBLAC1	255374	hgsc.bcm.edu	37	chr7	99725210	99725210	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caccgagagtccccgcgcggGagtggcggcgcagaggccgc	18	15	0	2	rs142426754	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:99725210G>T	ENST00000398075.2	+	2	591	c.192G>T	c.(190-192)ggG>ggT	p.G64G	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	64							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CCCCGCGCGGGAGTGGCGGCG	0.786													G|||	71	0.0141773	0.0023	0.0259	5008	,	,		10477	0.004		0.0388	False		,,,				2504	0.0072				p.G64G		.											.	MBLAC1-135	0			c.G192T						.	G		29,3009		0,29,1490	4	4	4		192	3.7	0	7	dbSNP_134	4	266,6806		2,262,3272	no	coding-synonymous	MBLAC1	NM_203397.1		2,291,4762	TT,TG,GG		3.7613,0.9546,2.9179		64/267	99725210	295,9815	1519	3536	5055	SO:0001819	synonymous_variant	255374	exon2			GCGCGGGAGTGGC	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.192G>T	7.37:g.99725210G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_203397	0	0	0	0	0	Q8N5X8	Silent	SNP	ENST00000398075.2	37	CCDS43620.1																																																																																			G|0.976;T|0.024		0.786	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		T	99725210	G	T	99725210	2	4	30	1	0	0	0	0	0	0	0	1	9389	1161	41	3		3	MBLAC1	7	99725210	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	692531	99725210	59413453	107	5382											
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	103243773	103243773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgctgaagtacagagatgatCcagaagagatgacaccacac	10	9	0	6			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:103243773C>G	ENST00000428762.1	-	24	3470	c.3311G>C	c.(3310-3312)gGa>gCa	p.G1104A	RELN_ENST00000343529.5_Missense_Mutation_p.G1104A|RELN_ENST00000424685.2_Missense_Mutation_p.G1104A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1104					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)		CAGAGATGATCCAGAAGAGAT	0.428																																					p.G1104A	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.G3311C						.						154	132	139					7																	103243773		2203	4300	6503	SO:0001583	missense	5649	exon24			GATGATCCAGAAG		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.3311G>C	7.37:g.103243773C>G	ENSP00000392423:p.Gly1104Ala	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	164	44	NM_173054	0	0	4	5	1	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475605	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28895	1.59;1.59;1.59	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	M	0.83384	2.64	0.80722	D	1	P;D	0.76494	0.663;0.999	B;D	0.78314	0.286;0.991	T	0.62515	-0.6838	10	0.45353	T	0.12	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1104;1104	P78509-2;P78509	.;RELN_HUMAN	A	1104	ENSP00000392423:G1104A;ENSP00000345694:G1104A;ENSP00000388446:G1104A	ENSP00000345694:G1104A	G	-	2	0	RELN	103031009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	2.550000	0.86006	0.655000	0.94253	GGA	.		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103243773	C	G	103243773	3	3	30	1	0	0	0	0	1	0	0	0	13265	855	30	3	7239	3	RELN	7	103243773	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	3518563	103243773	55894890	108	5383											
KIAA1549	57670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	138601908	138601908	+	Frame_Shift_Del	DEL	C	C	-													gaaagaggccaggacagacaCgtgaccgtctagagcactga							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:138601908delC	ENST00000422774.1	-	2	2512	c.2464delG	c.(2464-2466)gtgfs	p.V822fs	KIAA1549_ENST00000242365.4_Frame_Shift_Del_p.V772fs|KIAA1549_ENST00000440172.1_Frame_Shift_Del_p.V822fs			Q9HCM3	K1549_HUMAN	KIAA1549	822						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGACAGACACGTGACCGTCT	0.502			O	BRAF	pilocytic astrocytoma																																p.V822fs	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.2464delG						.						75	78	77					7																	138601908		2117	4237	6354	SO:0001589	frameshift_variant	57670	exon2			CAGACACGTGACC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2464delG	7.37:g.138601908delC	ENSP00000416040:p.Val822fs	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	142	29	NM_020910	0	0	0	0	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Frame_Shift_Del	DEL	ENST00000422774.1	37	CCDS56513.1																																																																																			.		0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			-	138601908	C	-	138601908	7	5	30	1	0	1	0	1	0	0	0	0	8271	536	19	0	3464	0	KIAA1549	7	138601908	Frame_Shift_Del	DEL	C	TCGA-OR-A5K9-01A-11D-A29I-10	35358135	138601908	20536755	109	5384											
SSPO	23145	bcgsc.ca	37	chr7	149486382	149486382	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagccgagctatccgtgccCccagggcttgctggcctgtg	14	14	0	1	rs2074704	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:149486382C>G	ENST00000378016.2	+	0	4358							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)			TATCCGTGCCCCCAGGGCTTG	0.672													C|||	299	0.0597045	0.031	0.0519	5008	,	,		16691	0.0933		0.0666	False		,,,				2504	0.0624				p.P1453R		.											.	.	0			c.C4358G						.	C		151,4245		2,147,2049	23	27	26		4362	4.8	0.5	7	dbSNP_96	26	557,8033		28,501,3766	no	coding-notMod3	SSPO	NM_198455.2		30,648,5815	GG,GC,CC		6.4843,3.4349,5.452			149486382	708,12278	2198	4295	6493			23145	exon30			CGTGCCCCCAGGG	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.149486382C>G		Somatic	23	1		WXS	Illumina GAIIx	Phase_I	291	112	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				C|0.891;G|0.109		0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149486382	C	G	149486382	1	3	30	0	1	0	0	0	0	0	0	0	15236	623	22	3		3	SSPO	7	149486382	RNA	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	10884474	149486382	9652281	110	5385											
NOS3	4846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150698991	150698991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtatggctccgagaccGgccgggcccagagctacgca	13	15	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:150698991G>T	ENST00000484524.1	+	12	1585	c.1585G>T	c.(1585-1587)Ggc>Tgc	p.G529C	NOS3_ENST00000467517.1_Missense_Mutation_p.G529C|NOS3_ENST00000461406.1_Missense_Mutation_p.G323C|NOS3_ENST00000297494.3_Missense_Mutation_p.G529C	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)		CTCCGAGACCGGCCGGGCCCA	0.642																																					p.G529C		.											.	NOS3-1011	0			c.G1585T						.						43	45	44					7																	150698991		2203	4300	6503	SO:0001583	missense	4846	exon12			GAGACCGGCCGGG		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.1585G>T	7.37:g.150698991G>T	ENSP00000420215:p.Gly529Cys	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	263	52	NM_001160111	0	0	1	1	0	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328054	0.81690	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.56097	D	0.000033	D	0.97486	0.9177	H	0.99156	4.45	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	0.99075	1.0835	10	0.87932	D	0	-2.0461	15.7394	0.77876	0.0:0.0:1.0:0.0	.	529;529;529;323;529	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	C	529;323;529;529	ENSP00000297494:G529C;ENSP00000417143:G323C;ENSP00000420215:G529C;ENSP00000420551:G529C	ENSP00000297494:G529C	G	+	1	0	NOS3	150329924	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	9.261000	0.95576	2.376000	0.81061	0.655000	0.94253	GGC	.		0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		T	150698991	G	T	150698991	3	4	30	1	0	0	0	0	1	0	0	0	10583	1116	39	2	1631	2	NOS3	7	150698991	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1212609	150698991	8439672	111	5386											
SLC4A2	6522	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150771214	150771214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catgacatgggccggggcaaGacccacgctggggccgggca	17	13	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr7:150771214G>C	ENST00000485713.1	+	17	3664	c.2624G>C	c.(2623-2625)aGa>aCa	p.R875T	SLC4A2_ENST00000310317.5_Missense_Mutation_p.R793T|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R875T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R866T|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R861T|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	875	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGGGGCAAGACCCACGCTG	0.677																																					p.R875T		.											.	SLC4A2-90	0			c.G2624C						.						28	34	32					7																	150771214		2202	4300	6502	SO:0001583	missense	6522	exon17			GGGCAAGACCCAC		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2624G>C	7.37:g.150771214G>C	ENSP00000419412:p.Arg875Thr	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	183	52	NM_003040	0	0	36	56	20	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	1.038	-0.679837	0.03353	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.54	-4.99	0.03010	Bicarbonate transporter, C-terminal (1);	1.995360	0.01812	N	0.033484	T	0.46619	0.1402	N	0.01134	-0.995	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.001	T	0.50808	-0.8784	10	0.11485	T	0.65	.	9.4883	0.38944	0.6271:0.249:0.1238:0.0	.	866;861;875	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	T	875;875;793;866;861	ENSP00000419412:R875T;ENSP00000405600:R875T;ENSP00000311402:R793T;ENSP00000376571:R866T;ENSP00000419164:R861T	ENSP00000311402:R793T	R	+	2	0	SLC4A2	150402147	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.186000	0.09670	-0.860000	0.04099	-0.367000	0.07326	AGA	.		0.677	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		C	150771214	G	C	150771214	3	2	30	1	0	0	0	0	1	0	0	0	14699	942	33	3	2686	3	SLC4A2	7	150771214	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	72223	150771214	8367449	112	5387											
CSMD1	64478	bcgsc.ca	37	chr8	3072036	3072036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccattgcaggagggcagcActtggtcccaggagggtttc	14	11	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:3072036A>C	ENST00000520002.1	-	31	5408	c.4853T>G	c.(4852-4854)gTg>gGg	p.V1618G	CSMD1_ENST00000537824.1_Missense_Mutation_p.V1617G|CSMD1_ENST00000602557.1_Missense_Mutation_p.V1618G|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1618G|CSMD1_ENST00000542608.1_Missense_Mutation_p.V1617G|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1617G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.V1618G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1618	Sushi 9. {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)		GGAGGGCAGCACTTGGTCCCA	0.468																																					p.V1617G		.											.	CSMD1-86	0			c.T4850G						.						69	66	67					8																	3072036		1981	4159	6140	SO:0001583	missense	64478	exon30			GGCAGCACTTGGT			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.4853T>G	8.37:g.3072036A>C	ENSP00000430733:p.Val1618Gly	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	317	14	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.957|0.957	-0.704506|-0.704506	0.03255|0.03255	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07	5.53|5.53	-2.94|-2.94	0.05581|0.05581	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.993842	.|0.08156	.|N	.|0.989189	T|T	0.45216|0.45216	0.1331|0.1331	N|N	0.16368|0.16368	0.405|0.405	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.16802	.|0.019;0.001;0.0	.|B;B;B	.|0.20577	.|0.03;0.01;0.004	T|T	0.27331|0.27331	-1.0077|-1.0077	5|10	.|0.30078	.|T	.|0.28	.|.	13.911|13.911	0.63866|0.63866	0.4327:0.0:0.5673:0.0|0.4327:0.0:0.5673:0.0	.|.	.|1618;1618;1618	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	R|G	1097|1618;1618;1480;1617;1617;1617	.|ENSP00000383047:V1618G;ENSP00000430733:V1618G;ENSP00000441462:V1617G;ENSP00000446243:V1617G;ENSP00000441675:V1617G	.|ENSP00000320445:V1480G	S|V	-|-	3|2	2|0	CSMD1|CSMD1	3059443|3059443	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.039000|0.039000	0.13416|0.13416	0.782000|0.782000	0.26788|0.26788	-0.845000|-0.845000	0.04179|0.04179	-0.462000|-0.462000	0.05337|0.05337	AGT|GTG	.		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	3072036	A	C	3072036	3	2	30	1	0	0	0	0	1	0	0	0	3953	159	6	5	6008	5	CSMD1	8	3072036	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		3072036	143291986	113	5388											
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	10465856	10465856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcctctacactttctgtctCtggctgggcctccttttctg	9	14	4	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:10465856C>T	ENST00000382483.3	-	4	5975	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1998	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTCTGTCTCTGGCTGGGCC	0.607																																					p.E1918K		.											.	RP1L1-139	0			c.G5752A						.						129	144	139					8																	10465856		2014	4165	6179	SO:0001583	missense	94137	exon4			CTGTCTCTGGCTG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5752G>A	8.37:g.10465856C>T	ENSP00000371923:p.Glu1918Lys	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	45	8	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231433	0.22626	.	.	ENSG00000183638	ENST00000382483	T	0.07908	3.15	1.4	1.4	0.22301	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.28233	0.204	B	0.24269	0.052	T	0.45891	-0.9230	9	0.22706	T	0.39	.	6.2459	0.20818	0.2966:0.7034:0.0:0.0	.	1918	A6NKC6	.	K	1918	ENSP00000371923:E1918K	ENSP00000371923:E1918K	E	-	1	0	RP1L1	10503266	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.236000	0.17967	0.652000	0.30806	0.484000	0.47621	GAG	.		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10465856	C	T	10465856	3	4	30	1	0	0	0	0	1	0	0	0	13578	922	32	3	1454	3	RP1L1	8	10465856	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7393820	10465856	135898166	114	5389											
XPO7	23039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	21845361	21845361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctaagcgtcttcataGgaaaaatgtaagtgtttcag	10	6	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:21845361G>A	ENST00000252512.9	+	15	1880	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	XPO7_ENST00000434536.1_Missense_Mutation_p.G603R|XPO7_ENST00000433566.4_Missense_Mutation_p.G595R	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	594					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CGTCTTCATAGGAAAAATGTA	0.463																																					p.G594R		.											.	XPO7-273	0			c.G1780A						.						101	96	98					8																	21845361		1968	4154	6122	SO:0001583	missense	23039	exon15			TTCATAGGAAAAA	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1780G>A	8.37:g.21845361G>A	ENSP00000252512:p.Gly594Arg	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	257	54	NM_015024	0	0	0	0	0	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	5.349	0.249755	0.10130	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.21361	2.01;2.01;2.01	4.96	4.96	0.65561	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.15521	-1.0434	10	0.10377	T	0.69	-10.2711	18.1612	0.89708	0.0:0.0:1.0:0.0	.	595;603;594	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	R	603;594;595	ENSP00000404853:G603R;ENSP00000252512:G594R;ENSP00000410249:G595R	ENSP00000252512:G594R	G	+	1	0	XPO7	21901307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.547000	0.98100	2.444000	0.82710	0.563000	0.77884	GGA	.		0.463	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		A	21845361	G	A	21845361	3	1	30	1	0	0	0	0	1	0	0	0	17498	1001	35	3	1890	3	XPO7	8	21845361	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	11379505	21845361	124518661	115	5390											
ENTPD4	9583	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	23305367	23305367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggggttattggtgtctgTagcttcaatgtcggtaactc	12	6	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:23305367T>C	ENST00000358689.4	-	4	473	c.238A>G	c.(238-240)Aca>Gca	p.T80A	ENTPD4_ENST00000356206.6_Missense_Mutation_p.T80A|ENTPD4_ENST00000417069.2_Missense_Mutation_p.T80A	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	80					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTGGTGTCTGTAGCTTCAATG	0.438																																					p.T80A		.											.	ENTPD4-92	0			c.A238G						.						218	165	183					8																	23305367		2203	4300	6503	SO:0001583	missense	9583	exon4			TGTCTGTAGCTTC	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.238A>G	8.37:g.23305367T>C	ENSP00000351520:p.Thr80Ala	Somatic	227	1		WXS	Illumina GAIIx	Phase_I	503	106	NM_004901	0	0	5	8	3	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824065	0.90873	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.14893	2.47;2.47;2.47	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;1.0;1.0	D;D;D;D	0.91635	0.958;0.999;0.999;0.999	T	0.19257	-1.0311	10	0.17832	T	0.49	-14.244	14.5513	0.68068	0.0:0.0:0.0:1.0	.	80;80;80;80	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	A	80;80;80;46	ENSP00000348536:T80A;ENSP00000351520:T80A;ENSP00000408573:T80A	ENSP00000348536:T80A	T	-	1	0	ENTPD4	23361312	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	7.632000	0.83247	2.173000	0.68751	0.528000	0.53228	ACA	.		0.438	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		C	23305367	T	C	23305367	3	2	30	1	0	0	0	0	1	0	0	0	5157	1638	57	4	1652	4	ENTPD4	8	23305367	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1460006	23305367	123058655	116	5391											
KIF13B	23303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	29035052	29035052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgctcgttcactgccaGctaaatccaccaggctgagt	9	13	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:29035052G>A	ENST00000524189.1	-	9	802	c.764C>T	c.(763-765)gCt>gTt	p.A255V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A255V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	255	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCACTGCCAGCTAAATCCAC	0.478																																					p.A255V		.											.	KIF13B-22	0			c.C764T						.						143	144	144					8																	29035052		1953	4159	6112	SO:0001583	missense	23303	exon9			CTGCCAGCTAAAT	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.764C>T	8.37:g.29035052G>A	ENSP00000427900:p.Ala255Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	124	26	NM_015254	0	0	7	11	4	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151287	0.78001	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.95518	-3.73;-3.73	4.95	4.95	0.65309	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.995	D	0.99164	1.0862	10	0.87932	D	0	.	18.3857	0.90465	0.0:0.0:1.0:0.0	.	241;255;255	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	V	255	ENSP00000427900:A255V;ENSP00000429201:A255V	ENSP00000429201:A255V	A	-	2	0	KIF13B	29090971	1.000000	0.71417	0.260000	0.24451	0.299000	0.27559	9.657000	0.98554	2.577000	0.86979	0.462000	0.41574	GCT	.		0.478	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			A	29035052	G	A	29035052	3	1	30	1	0	0	0	0	1	0	0	0	8302	971	34	3	4844	3	KIF13B	8	29035052	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	5729685	29035052	117328970	117	5392											
WRN	7486	bcgsc.ca	37	chr8	31024654	31024654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcggacttcaaccttcaTgtgatgtcaacaaaaggaga	9	9	3	2	rs1346044	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:31024654T>C	ENST00000298139.5	+	34	4348	c.4099T>C	c.(4099-4101)Tgt>Cgt	p.C1367R	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1367			C -> R (polymorphism associated with a higher risk of myocardial infarction; dbSNP:rs1346044). {ECO:0000269|PubMed:10069711, ECO:0000269|PubMed:11161804, ECO:0000269|PubMed:9021029, ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCAACCTTCATGTGATGTCAA	0.403			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				T|||	965	0.192692	0.1475	0.1729	5008	,	,		17332	0.1042		0.2664	False		,,,				2504	0.2832				p.C1367R	Ovarian(18;161 598 2706 14834 27543)	.	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	.	WRN-1036	0			c.T4099C	GRCh37	CM971591	WRN	M	rs1346044	.	T	ARG/CYS	757,3649	308.8+/-290.8	69,619,1515	120	105	110		4099	2.5	0.1	8	dbSNP_88	110	2200,6400	374.4+/-337.4	301,1598,2401	yes	missense	WRN	NM_000553.4	180	370,2217,3916	CC,CT,TT		25.5814,17.1811,22.7357	possibly-damaging	1367/1433	31024654	2957,10049	2203	4300	6503	SO:0001583	missense	7486	exon34	Familial Cancer Database	WS, Adult Progeria	CCTTCATGTGATG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4099T>C	8.37:g.31024654T>C	ENSP00000298139:p.Cys1367Arg	Somatic	322	2		WXS	Illumina GAIIx	Phase_I	553	12	NM_000553	0	0	29	29	0	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	400	0.18315018315018314	81	0.16463414634146342	64	0.17679558011049723	56	0.0979020979020979	199	0.262532981530343	T	8.055	0.766747	0.15983	0.171811	0.255814	ENSG00000165392	ENST00000298139	T	0.44083	0.93	4.86	2.45	0.29901	.	0.692798	0.13759	N	0.364736	T	0.00012	0.0000	M	0.70595	2.14	0.27730	P	0.9448488	P	0.41265	0.744	B	0.39068	0.289	T	0.09487	-1.0672	9	0.48119	T	0.1	-0.0497	5.6058	0.17379	0.0:0.1646:0.1451:0.6903	rs1346044;rs2230015;rs17652782;rs17847579;rs52814593;rs58743977;rs1346044	1367	Q14191	WRN_HUMAN	R	1367	ENSP00000298139:C1367R	ENSP00000298139:C1367R	C	+	1	0	WRN	31144196	0.589000	0.26807	0.090000	0.20809	0.295000	0.27426	0.579000	0.23788	0.406000	0.25560	0.533000	0.62120	TGT	T|0.798;C|0.202		0.403	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			C	31024654	T	C	31024654	3	2	30	1	0	0	0	0	1	0	0	0	17451	1464	51	4	4229	4	WRN	8	31024654	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1989602	31024654	115339368	118	5393											
GPR124	25960	hgsc.bcm.edu	37	chr8	37699516	37699516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtccagcgagagcggCagtctgcacaacagccccac	11	16	1	1	rs7010546	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:37699516C>T	ENST00000412232.2	+	19	3673	c.3660C>T	c.(3658-3660)ggC>ggT	p.G1220G	GPR124_ENST00000315215.7_Silent_p.G1003G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1220					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGAGAGCGGCAGTCTGCACA	0.746													C|||	2324	0.464058	0.3048	0.5144	5008	,	,		7503	0.6716		0.4165	False		,,,				2504	0.4785				p.G1220G		.											.	GPR124-157	0			c.C3660T						.	C		594,1854		106,382,736	2	3	2		3660	3.1	1	8	dbSNP_116	2	1524,3502		291,942,1280	no	coding-synonymous	GPR124	NM_032777.9		397,1324,2016	TT,TC,CC		30.3223,24.2647,28.3382		1220/1339	37699516	2118,5356	1224	2513	3737	SO:0001819	synonymous_variant	25960	exon19			GAGCGGCAGTCTG	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.3660C>T	8.37:g.37699516C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	13	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2	1050	0.4807692307692308	166	0.33739837398373984	169	0.46685082872928174	397	0.6940559440559441	318	0.41952506596306066	C	4.050	0.006880	0.07866	0.242647	0.303223	ENSG00000020181	ENST00000416514	.	.	.	3.95	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999997394	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-18.0593	4.3087	0.10960	0.1378:0.5532:0.2174:0.0916	rs7010546;rs59434562;rs7010546	.	.	.	X	1213	.	ENSP00000405145:Q1213X	Q	+	1	0	GPR124	37818674	0.843000	0.29541	1.000000	0.80357	0.388000	0.30384	-0.114000	0.10757	0.874000	0.35823	0.313000	0.20887	CAG	C|0.479;G|0.000;T|0.520		0.746	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37699516	C	T	37699516	2	4	30	1	0	0	0	0	0	0	0	1	6664	697	25	3		3	GPR124	8	37699516	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	6674862	37699516	108664506	119	5394											
MYST3	7994	ucsc.edu;bcgsc.ca	37	chr8	41791017	41791017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcccacagatgctgccgCccatcgtggagtcgtaactg	11	13	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:41791017C>T	ENST00000396930.3	-	18	5264	c.4721G>A	c.(4720-4722)gGc>gAc	p.G1574D	KAT6A_ENST00000265713.2_Missense_Mutation_p.G1574D|KAT6A_ENST00000406337.1_Missense_Mutation_p.G1574D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1574	Interaction with PML.|Interaction with RUNX1-2.				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)										GATGCTGCCGCCCATCGTGGA	0.592																																					p.G1574D		.											.	.	0			c.G4721A						.						68	67	68					8																	41791017		2203	4300	6503	SO:0001583	missense	7994	exon18			CTGCCGCCCATCG	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.4721G>A	8.37:g.41791017C>T	ENSP00000380136:p.Gly1574Asp	Somatic	175	3		WXS	Illumina GAIIx	Phase_I	338	263	NM_001099412	0	0	3	9	6	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547107	0.27652	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89344	0.3656	10	0.56958	D	0.05	-17.3642	20.3018	0.98617	0.0:1.0:0.0:0.0	.	1574	Q92794	KAT6A_HUMAN	D	1574	ENSP00000265713:G1574D;ENSP00000385888:G1574D;ENSP00000380136:G1574D	ENSP00000265713:G1574D	G	-	2	0	KAT6A	41910174	1.000000	0.71417	0.964000	0.40570	0.208000	0.24298	7.336000	0.79245	2.799000	0.96334	0.650000	0.86243	GGC	.		0.592	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41791017	C	T	41791017	3	4	30	1	0	0	0	0	1	0	0	0	10142	739	26	3	1297	3	MYST3	8	41791017	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	4091501	41791017	104573005	120	5395											
RB1CC1	9821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	53569634	53569634	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagattacagcttctttttCatgtttaaccaaagcaaatt	5	8	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:53569634C>A	ENST00000025008.5	-	15	3278	c.2755G>T	c.(2755-2757)Gaa>Taa	p.E919*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E919*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E919*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	919					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)				GCTTCTTTTTCATGTTTAACC	0.303																																					p.E919X	GBM(180;1701 2102 13475 42023 52570)	.											.	RB1CC1-170	0			c.G2755T						.						71	75	74					8																	53569634		2202	4297	6499	SO:0001587	stop_gained	9821	exon15			CTTTTTCATGTTT	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.2755G>T	8.37:g.53569634C>A	ENSP00000025008:p.Glu919*	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	37	6	NM_001083617	0	0	20	20	0	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976955	0.99023	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-21.9154	20.0149	0.97475	0.0:1.0:0.0:0.0	.	.	.	.	X	919	.	ENSP00000025008:E919X	E	-	1	0	RB1CC1	53732187	1.000000	0.71417	0.999000	0.59377	0.208000	0.24298	7.202000	0.77856	2.793000	0.96121	0.650000	0.86243	GAA	.		0.303	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53569634	C	A	53569634	4	1	30	1	0	0	0	0	0	1	0	0	13144	835	29	3	2069	3	RB1CC1	8	53569634	Nonsense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	11778617	53569634	92794388	121	5396											
C8orf46	254778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	67428183	67428183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcccttccccaaggagcaGaagcctctctaccactgaca	7	17	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:67428183G>A	ENST00000305454.3	+	6	937	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C8orf46_ENST00000521495.1_3'UTR|C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	166										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCAAGGAGCAGAAGCCTCTCT	0.542																																					p.E166K		.											.	C8orf46-92	0			c.G496A						.						76	69	72					8																	67428183		2203	4300	6503	SO:0001583	missense	254778	exon6			GGAGCAGAAGCCT	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.496G>A	8.37:g.67428183G>A	ENSP00000302260:p.Glu166Lys	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	47	7	NM_152765	0	0	0	0	0	B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	37	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238809	0.79800	.	.	ENSG00000169085	ENST00000305454	.	.	.	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000023	T	0.64227	0.2579	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.62358	-0.6871	8	.	.	.	-2.8569	16.3656	0.83319	0.0:0.0:1.0:0.0	.	166	Q8TAG6	CH046_HUMAN	K	166	.	.	E	+	1	0	C8orf46	67590737	1.000000	0.71417	0.954000	0.39281	0.521000	0.34408	6.281000	0.72632	2.385000	0.81259	0.563000	0.77884	GAA	.		0.542	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		A	67428183	G	A	67428183	3	1	30	1	0	0	0	0	1	0	0	0	2438	943	33	3	518	3	C8orf46	8	67428183	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	13858549	67428183	78935839	122	5397											
RSPO2	340419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	108970363	108970363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggattcagcaatggttggAcacagtattgtgtctttcac	10	8	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:108970363A>G	ENST00000276659.5	-	5	1181	c.561T>C	c.(559-561)tgT>tgC	p.C187C	RSPO2_ENST00000517781.1_Silent_p.C123C|RSPO2_ENST00000517939.1_Silent_p.C120C|RSPO2_ENST00000378439.2_Silent_p.C123C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	187	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAATGGTTGGACACAGTATTG	0.433																																					p.C187C		.											.	RSPO2-231	0			c.T561C						.						345	291	310					8																	108970363		2203	4300	6503	SO:0001819	synonymous_variant	340419	exon5			GGTTGGACACAGT	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.561T>C	8.37:g.108970363A>G		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	298	61	NM_178565	0	0	0	0	0	B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	ENST00000276659.5	37	CCDS6307.1																																																																																			.		0.433	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		G	108970363	A	G	108970363	2	3	30	1	0	0	0	0	0	0	0	1	13755	273	10	4		4	RSPO2	8	108970363	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	41542180	108970363	37393659	123	5398											
C8orf85	441376	hgsc.bcm.edu	37	chr8	117950768	117950768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggaggagcagagctggacgGgcgttgaggccaccctggcc	19	11	0	2	rs16889283	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:117950768G>C	ENST00000378279.3	+	1	331	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	96	Ala/Arg-rich.		G -> R (in dbSNP:rs16889283). {ECO:0000269|PubMed:15489334}.		lung development (GO:0030324)												gagctggacgggcgttgaggc	0.766													C|||	1490	0.297524	0.3759	0.33	5008	,	,		10043	0.1885		0.2803	False		,,,				2504	0.2986				p.G96R		.											.	.	0			c.G286C						.	C	ARG/GLY	549,1809		44,461,674	2	3	2		286	2.4	0.5	8	dbSNP_123	2	1138,4124		124,890,1617	no	missense	C8orf85	NM_001025357.2	125	168,1351,2291	CC,CG,GG		21.6268,23.2824,22.1391	benign	96/156	117950768	1687,5933	1179	2631	3810	SO:0001583	missense	441376	exon1			TGGACGGGCGTTG	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"Alanine and arginine-rich domain-containing protein"		"chromosome 8 open reading frame 85"	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.286G>C	8.37:g.117950768G>C	ENSP00000367528:p.Gly96Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001025357	0	0	0	8	8	A5PKU8	Missense_Mutation	SNP	ENST00000378279.3	37	CCDS34935.1	615	0.2815934065934066	169	0.3434959349593496	125	0.3453038674033149	113	0.19755244755244755	208	0.27440633245382584	C	0.010	-1.751868	0.00663	0.232824	0.216268	ENSG00000205002	ENST00000378279	T	0.24151	1.87	3.34	2.43	0.29744	.	0.000000	0.40818	N	0.001011	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.46190	-0.9209	9	0.02654	T	1	-2.461	6.0007	0.19519	0.2199:0.5672:0.213:0.0	rs16889283	96	Q4LEZ3	AARD_HUMAN	R	96	ENSP00000367528:G96R	ENSP00000367528:G96R	G	+	1	0	C8orf85	118019949	0.205000	0.23458	0.549000	0.28204	0.028000	0.11728	0.797000	0.26999	0.216000	0.20781	-0.371000	0.07208	GGC	C|0.278;G|0.722		0.766	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		C	117950768	G	C	117950768	3	2	30	1	0	0	0	0	1	0	0	0	2448	1232	43	3	288	3	C8orf85	8	117950768	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	8980405	117950768	28413254	124	5399											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	19	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	30	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5K9-01A-11D-A29I-10	2270008	120220776	26143246	125	5400											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_030895	0	0	0	6	6	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	30	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	24158092	144378868	1985154	126	5401											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000345136.3_Silent_p.A1969A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	33	21	NM_201380	0	0	5	11	6	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	30	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	619322	144998190	1365832	127	5402											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000345136.3_Silent_p.L1184L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	23	16	NM_201380	0	0	12	38	26	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	30	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	3594	145001784	1362238	128	5403											
SCRT1	83482	hgsc.bcm.edu	37	chr8	145557497	145557497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagggagcggcggcagAgccggcattggaagccttac	18	9	0	1	rs7013127	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:145557497A>C	ENST00000332135.4	-	2	508	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	133			S -> A (in dbSNP:rs7013127). {ECO:0000269|Ref.2}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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)|upper_aerodigestive_tract(1)	3	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;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGCGGCAGAGCCGGCATTG	0.776													c|||	4719	0.942292	0.9418	0.9568	5008	,	,		3920	0.9921		0.8956	False		,,,				2504	0.9294				p.S133A		.											.	.	0			c.T397G						.						1	1	1					8																	145557497		634	1472	2106	SO:0001583	missense	83482	exon2			CGGCAGAGCCGGC	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.397T>G	8.37:g.145557497A>C	ENSP00000331692:p.Ser133Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_031309	0	0	0	0	0	A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	CCDS6421.1	1975	0.9043040293040293	396	0.8048780487804879	339	0.93646408839779	552	0.965034965034965	688	0.9076517150395779	c	0.007	-1.995963	0.00435	.	.	ENSG00000170616	ENST00000332135	T	0.06933	3.24	0.926	-0.0566	0.13805	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.05525	T	0.97	5.8842	6.2142	0.20646	0.3034:0.6966:0.0:0.0	rs7013127	133	Q9BWW7	SCRT1_HUMAN	A	133	ENSP00000331692:S133A	ENSP00000331692:S133A	S	-	1	0	SCRT1	145528305	.	.	0.675000	0.29917	0.381000	0.30169	.	.	-1.712000	0.01393	-3.289000	0.00047	TCT	A|0.096;C|0.904		0.776	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		C	145557497	A	C	145557497	3	2	30	1	0	0	0	0	1	0	0	0	13986	304	11	5	653	5	SCRT1	8	145557497	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	555713	145557497	806525	129	5404											
MFSD3	113655	broad.mit.edu;bcgsc.ca	37	chr8	145736053	145736053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgtcagactgccttggtCttccacctggacaccctggg	11	15	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:145736053C>A	ENST00000301327.4	+	3	1163	c.903C>A	c.(901-903)gtC>gtA	p.V301V	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	301	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCCTTGGTCTTCCACCTGG	0.647																																					p.V301V		.											.	MFSD3-69	0			c.C903A						.						71	78	75					8																	145736053		2203	4296	6499	SO:0001819	synonymous_variant	113655	exon3			CTTGGTCTTCCAC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.903C>A	8.37:g.145736053C>A		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	74	5	NM_138431	0	0	30	33	3		Silent	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																			.		0.647	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145736053	C	A	145736053	2	1	30	1	0	0	0	0	0	0	0	1	9570	900	32	3		3	MFSD3	8	145736053	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	178556	145736053	627969	130	5405											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_213605	0	0	0	2	2		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	30	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	297294	146033347	330675	131	5406											
C9orf66	157983	hgsc.bcm.edu	37	chr9	214706	214706	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtctgccccagtatcGggaggccagttccgcgctgg	15	15	1	0	rs540473	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:214706G>C	ENST00000382387.2	-	1	1187	c.691C>G	c.(691-693)Cga>Gga	p.R231G	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	231	Arg-rich.		R -> G (in dbSNP:rs540473).							central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCCCAGTATCGGGAGGCCAGT	0.791													C|||	2724	0.54393	0.4856	0.5504	5008	,	,		9921	0.7401		0.4324	False		,,,				2504	0.5307				p.R231G		.											.	C9orf66-514	0			c.C691G						.	C	GLY/ARG	1470,1990		362,746,622	3	4	4		691	1.7	0.9	9	dbSNP_83	4	2548,4318		590,1368,1475	no	missense	C9orf66	NM_152569.2	125	952,2114,2097	CC,CG,GG		37.1104,42.4855,38.9115	benign	231/296	214706	4018,6308	1730	3433	5163	SO:0001583	missense	157983	exon1			AGTATCGGGAGGC	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.691C>G	9.37:g.214706G>C	ENSP00000371824:p.Arg231Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_152569	0	0	0	0	0	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	1127	0.5160256410256411	240	0.4878048780487805	182	0.5027624309392266	387	0.6765734265734266	318	0.41952506596306066	.	6.200	0.405074	0.11754	0.424855	0.371104	ENSG00000183784	ENST00000382387	T	0.22743	1.94	3.91	1.74	0.24563	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	8	0.87932	D	0	.	11.1247	0.48310	0.0:0.4274:0.5726:0.0	rs540473;rs13292950	231	Q5T8R8	CI066_HUMAN	G	231	ENSP00000371824:R231G	ENSP00000371824:R231G	R	-	1	2	C9orf66	204706	0.960000	0.32886	0.885000	0.34714	0.005000	0.04900	0.456000	0.21859	0.370000	0.24538	-0.335000	0.08231	CGA	G|0.516;C|0.484		0.791	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	214706	G	C	214706	3	2	30	1	0	0	0	0	1	0	0	0	2497	1124	39	2	200	2	C9orf66	9	214706	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		214706	140998725	132	5407											
C9orf41	138199	broad.mit.edu	37	chr9	77642981	77642983	+	In_Frame_Del	DEL	CTC	CTC	-													aagtgctcacgctcaagcctCtcctcctcctcctcggtgct							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:77642981_77642983delCTC	ENST00000376834.3	-	1	327_329	c.175_177delGAG	c.(175-177)gagdel	p.E59del	C9orf41_ENST00000376830.3_In_Frame_Del_p.E59del|C9orf41_ENST00000376837.3_In_Frame_Del_p.E59del	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	59										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GCTCAAGCCTCTCCTCCTCCTCC	0.695																																					p.59_59del		.											.	C9orf41-92	0			c.175_177del						.			112,4060		5,102,1979						-3	0.9			14	316,7808		9,298,3755	no	coding	C9orf41	NM_152420.1		14,400,5734	A1A1,A1R,RR		3.8897,2.6846,3.4808				428,11868				SO:0001651	inframe_deletion	138199	exon1			AAGCCTCTCCTCC	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.175_177delGAG	9.37:g.77642990_77642992delCTC	ENSP00000366030:p.Glu59del	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	316	8	NM_152420	0	0	0	0	0	Q7Z383|Q8N7C5	In_Frame_Del	DEL	ENST00000376834.3	37	CCDS6649.1																																																																																			.		0.695	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		-	77642983	CTC	-	77642981	7	5	30	1	0	1	0	1	0	0	0	0	2489	912	32	0	1084	0	C9orf41	9	77642981	In_Frame_Del	DEL	CTC	TCGA-OR-A5K9-01A-11D-A29I-10	77428275	77642981	63570450	133	5408											
TLE4	7091	broad.mit.edu	37	chr9	82267611	82267611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccattccacccatcggtaGcagtgccgggcttctggccc	11	16	1	0	rs41307447	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:82267611G>C	ENST00000376552.2	+	7	1512	c.494G>C	c.(493-495)aGc>aCc	p.S165T	TLE4_ENST00000376537.4_Missense_Mutation_p.S165T|TLE4_ENST00000265284.6_Missense_Mutation_p.S140T|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.S165T|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.S165T	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	165	Gly/Pro-rich (GP 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						CCCATCGGTAGCAGTGCCGGG	0.552													G|||	7	0.00139776	8e-04	0	5008	,	,		16241	0		0.006	False		,,,				2504	0				p.S165T		.											.	TLE4-524	0			c.G494C						.	G	THR/SER	4,3924		0,4,1960	95	100	98		494	6	1	9	dbSNP_127	98	28,8244		0,28,4108	yes	missense	TLE4	NM_007005.3	58	0,32,6068	CC,CG,GG		0.3385,0.1018,0.2623	benign	165/774	82267611	32,12168	1964	4136	6100	SO:0001583	missense	7091	exon7			TCGGTAGCAGTGC	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.494G>C	9.37:g.82267611G>C	ENSP00000365735:p.Ser165Thr	Somatic	80	1		WXS	Illumina GAIIx	Phase_I	108	5	NM_007005	0	0	22	22	0	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	6	0.0027472527472527475	1	0.0020325203252032522	0	0.0	0	0.0	5	0.006596306068601583	G	15.79	2.938352	0.52972	0.001018	0.003385	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.47528	0.84;0.85;0.92;0.87;0.9;0.96;0.89;1.48;1.7	6.04	6.04	0.98038	.	0.123295	0.64402	D	0.000001	T	0.34978	0.0916	L	0.42744	1.35	0.80722	D	1	B;B;B;B	0.25351	0.002;0.124;0.009;0.0	B;B;B;B	0.20767	0.012;0.031;0.013;0.003	T	0.18618	-1.0331	10	0.17832	T	0.49	-23.693	20.5948	0.99439	0.0:0.0:1.0:0.0	rs41307447	140;165;165;165	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	T	165;165;165;179;179;165;140;163;150;35	ENSP00000365735:S165T;ENSP00000365727:S165T;ENSP00000365703:S165T;ENSP00000415423:S179T;ENSP00000365720:S165T;ENSP00000265284:S140T;ENSP00000412567:S163T;ENSP00000409313:S150T;ENSP00000417844:S35T	ENSP00000265284:S140T	S	+	2	0	TLE4	81457431	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	6.582000	0.74049	2.873000	0.98535	0.563000	0.77884	AGC	G|0.997;C|0.003		0.552	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		C	82267611	G	C	82267611	3	2	30	1	0	0	0	0	1	0	0	0	15988	971	34	3	520	3	TLE4	9	82267611	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	4624630	82267611	58945820	134	5409											
C9orf170	401535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	89771511	89771511	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttctccggaaaaccctGactaatacagtagaggatat	8	9	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:89771511G>T	ENST00000375941.2	+	2	279	c.192G>T	c.(190-192)ctG>ctT	p.L64L		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	64										large_intestine(3)|lung(2)|prostate(1)	6						ggaaaaccctgactaatacag	0.383																																					p.L64L		.											.	C9orf170-90	0			c.G192T						.						29	28	28					9																	89771511		2203	4298	6501	SO:0001819	synonymous_variant	401535	exon2			AACCCTGACTAAT	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.192G>T	9.37:g.89771511G>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	78	15	NM_001001709	0	0	0	0	0		Silent	SNP	ENST00000375941.2	37	CCDS35058.1																																																																																			.		0.383	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		T	89771511	G	T	89771511	2	4	30	1	0	0	0	0	0	0	0	1	2476	1277	45	3		3	C9orf170	9	89771511	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7503900	89771511	51441920	135	5410											
GALNT12	79695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	101589096	101589096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgcgcctgatccgcGccaacaagagagagggcctg	14	13	0	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:101589096G>A	ENST00000375011.3	+	3	604	c.604G>A	c.(604-606)Gcc>Acc	p.A202T		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	202	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCTGATCCGCGCCAACAAGAG	0.632																																					p.A202T		.											.	GALNT12-92	0			c.G604A						.						36	35	35					9																	101589096		2203	4299	6502	SO:0001583	missense	79695	exon3			ATCCGCGCCAACA	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.604G>A	9.37:g.101589096G>A	ENSP00000364150:p.Ala202Thr	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	119	34	NM_024642	0	0	2	3	1	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631897	0.87660	.	.	ENSG00000119514	ENST00000375011	T	0.60672	0.17	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	N	0.02736	-0.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49303	-0.8954	10	0.02654	T	1	.	17.902	0.88907	0.0:0.0:1.0:0.0	.	202	Q8IXK2	GLT12_HUMAN	T	202	ENSP00000364150:A202T	ENSP00000364150:A202T	A	+	1	0	GALNT12	100628917	1.000000	0.71417	0.347000	0.25668	0.705000	0.40729	7.946000	0.87746	2.814000	0.96858	0.655000	0.94253	GCC	.		0.632	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		A	101589096	G	A	101589096	3	1	30	1	0	0	0	0	1	0	0	0	6235	1087	38	1	614	1	GALNT12	9	101589096	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	11817585	101589096	39624335	136	5411											
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	104449164	104449164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaactgggttgtaatttCgaaaatccgccggatacttt	8	10	0	0	rs145326290		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:104449164C>T	ENST00000361820.3	-	2	1618	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	340					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTTGTAATTTCGAAAATCCGC	0.517													c|||	1	0.000199681	0	0	5008	,	,		20775	0.001		0	False		,,,				2504	0				p.E340K		.											.	GRIN3A-96	0			c.G1018A						.						69	68	68					9																	104449164		2203	4300	6503	SO:0001583	missense	116443	exon2			TAATTTCGAAAAT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1018G>A	9.37:g.104449164C>T	ENSP00000355155:p.Glu340Lys	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	67	16	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.11	2.139742	0.37728	.	.	ENSG00000198785	ENST00000361820	D	0.84873	-1.91	5.83	3.0	0.34707	.	0.344358	0.27151	N	0.020683	T	0.76499	0.3996	L	0.44542	1.39	0.31129	N	0.707924	B	0.28082	0.2	B	0.25140	0.058	T	0.66093	-0.6009	10	0.10902	T	0.67	.	11.6525	0.51297	0.0:0.7045:0.2327:0.0628	.	340	Q8TCU5	NMD3A_HUMAN	K	340	ENSP00000355155:E340K	ENSP00000355155:E340K	E	-	1	0	GRIN3A	103488985	0.991000	0.36638	0.947000	0.38551	0.815000	0.46073	1.444000	0.35068	0.382000	0.24878	-0.213000	0.12676	GAA	C|0.999;T|0.000		0.517	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104449164	C	T	104449164	3	4	30	1	0	0	0	0	1	0	0	0	6810	893	31	1	2361	1	GRIN3A	9	104449164	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2860068	104449164	36764267	137	5412											
CRB2	286204	hgsc.bcm.edu	37	chr9	126135831	126135831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcgcatcctgctggcTgagaacttcaccggctgctt	12	13	1	1	rs7848449	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:126135831T>C	ENST00000373631.3	+	10	3022	c.3021T>C	c.(3019-3021)gcT>gcC	p.A1007A	CRB2_ENST00000359999.3_Silent_p.A1007A|CRB2_ENST00000373629.2_Silent_p.A675A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1007	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCCTGCTGGCTGAGAACTTCA	0.766													C|||	691	0.137979	0.2436	0.1383	5008	,	,		8285	0.0556		0.0944	False		,,,				2504	0.1247				p.A1007A		.											.	CRB2-91	0			c.T3021C						.	C		511,2581		46,419,1081	6	6	6		3021	-6.8	0.9	9	dbSNP_116	6	457,5659		17,423,2618	no	coding-synonymous	CRB2	NM_173689.5		63,842,3699	CC,CT,TT		7.4722,16.5265,10.5126		1007/1286	126135831	968,8240	1546	3058	4604	SO:0001819	synonymous_variant	286204	exon10			GCTGGCTGAGAAC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3021T>C	9.37:g.126135831T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	CCDS6852.2																																																																																			T|0.886;C|0.114		0.766	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		C	126135831	T	C	126135831	2	2	30	1	0	0	0	0	0	0	0	1	3856	1567	55	4		4	CRB2	9	126135831	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	21686667	126135831	15077600	138	5413											
TMEM8C	389827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	136379902	136379902	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggacataagtgtagtcCcagtcctgcggggggcaagc	15	10	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr9:136379902C>T	ENST00000339996.3	-	5	623	c.522G>A	c.(520-522)tgG>tgA	p.W174*	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	174					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AAGTGTAGTCCCAGTCCTGCG	0.647																																					p.W174X		.											.	TMEM8C-68	0			c.G522A						.						88	84	85					9																	136379902		2203	4300	6503	SO:0001587	stop_gained	389827	exon5			GTAGTCCCAGTCC	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.522G>A	9.37:g.136379902C>T	ENSP00000419712:p.Trp174*	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	103	32	NM_001080483	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000339996.3	37	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.868564	0.72065	.	.	ENSG00000187616	ENST00000339996	.	.	.	3.78	3.78	0.43462	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-16.0741	14.5513	0.68068	0.0:1.0:0.0:0.0	.	.	.	.	X	174	.	ENSP00000419712:W174X	W	-	3	0	TMEM8C	135369723	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	7.204000	0.77872	1.825000	0.53177	0.205000	0.17691	TGG	.		0.647	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		T	136379902	C	T	136379902	4	4	30	1	0	0	0	0	0	1	0	0	16263	624	22	3	147	3	TMEM8C	9	136379902	Nonsense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	10244071	136379902	4833529	139	5414											
PRKCQ	5588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	6533734	6533734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtaattgtagactttaAatctgtgtggcatgtcaatt	8	5	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:6533734A>T	ENST00000263125.5	-	8	800	c.701T>A	c.(700-702)tTt>tAt	p.F234Y	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F234Y|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F109Y	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	234					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)	GTAGACTTTAAATCTGTGTGG	0.488																																					p.F234Y	Ovarian(50;572 1126 10530 25349 30594)	.											.	PRKCQ-1380	0			c.T701A						.						149	140	143					10																	6533734		2203	4300	6503	SO:0001583	missense	5588	exon8			ACTTTAAATCTGT	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.701T>A	10.37:g.6533734A>T	ENSP00000263125:p.Phe234Tyr	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	164	32	NM_006257	0	0	0	0	0	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.053356	0.75960	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	D;D;D	0.95171	-3.63;-3.63;-3.63	5.2	5.2	0.72013	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.992	D;D;P	0.81914	0.995;0.979;0.887	D	0.99501	1.0953	10	0.87932	D	0	.	15.054	0.71897	1.0:0.0:0.0:0.0	.	109;234;234	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	Y	234;234;109	ENSP00000263125:F234Y;ENSP00000380361:F234Y;ENSP00000441752:F109Y	ENSP00000263125:F234Y	F	-	2	0	PRKCQ	6573740	1.000000	0.71417	0.992000	0.48379	0.463000	0.32649	9.199000	0.95003	1.949000	0.56562	0.533000	0.62120	TTT	.		0.488	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		T	6533734	A	T	6533734	3	4	30	1	0	0	0	0	1	0	0	0	12557	14	1	5	1463	5	PRKCQ	10	6533734	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		6533734	129001013	140	5415											
ECHDC3	79746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr10	11805518	11805518	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccagaagagaaaacCtgtctggtcacacgagccag	9	13	2	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:11805518C>G	ENST00000379215.4	+	5	1098	c.887C>G	c.(886-888)cCt>cGt	p.P296R	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	296						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AAGAGAAAACCTGTCTGGTCA	0.662																																					p.P296R		.											.	ECHDC3-90	0			c.C887G						.						19	18	18					10																	11805518		2201	4296	6497	SO:0001583	missense	79746	exon5			GAAAACCTGTCTG	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.887C>G	10.37:g.11805518C>G	ENSP00000368517:p.Pro296Arg	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	16	8	NM_024693	0	0	0	0	0	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	CCDS7084.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252508	0.59212	.	.	ENSG00000134463	ENST00000379215	T	0.58358	0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.86531	0.5955	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92626	0.6112	10	0.87932	D	0	.	18.8741	0.92328	0.0:1.0:0.0:0.0	.	296	Q96DC8	ECHD3_HUMAN	R	296	ENSP00000368517:P296R	ENSP00000368517:P296R	P	+	2	0	ECHDC3	11845524	1.000000	0.71417	0.271000	0.24616	0.014000	0.08584	7.398000	0.79919	2.706000	0.92434	0.561000	0.74099	CCT	.		0.662	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		G	11805518	C	G	11805518	3	3	30	1	0	0	0	0	1	0	0	0	4909	681	24	3	905	3	ECHDC3	10	11805518	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	5271784	11805518	123729229	141	5416											
LYZL1	84569	ucsc.edu;bcgsc.ca	37	chr10	29581490	29581490	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcggctacaacaccacagCccagacggtcctggatgacg	12	14	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:29581490C>G	ENST00000375500.3	+	3	377	c.320C>G	c.(319-321)gCc>gGc	p.A107G		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	61					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AACACCACAGCCCAGACGGTC	0.542																																					p.A107G		.											.	LYZL1-90	0			c.C320G						.						123	98	106					10																	29581490		2203	4300	6503	SO:0001583	missense	84569	exon3			CCACAGCCCAGAC		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.320C>G	10.37:g.29581490C>G	ENSP00000364650:p.Ala107Gly	Somatic	260	3		WXS	Illumina GAIIx	Phase_I	376	360	NM_032517	0	0	0	0	0	Q5T921|Q8WW16	Missense_Mutation	SNP	ENST00000375500.3	37	CCDS31174.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305695	0.40795	.	.	ENSG00000120563	ENST00000375500	T	0.80214	-1.35	4.4	4.4	0.53042	.	0.472310	0.21075	N	0.080588	D	0.90960	0.7158	M	0.93375	3.41	0.09310	N	0.999996	D	0.63046	0.992	D	0.63877	0.919	D	0.84635	0.0692	10	0.87932	D	0	-18.1265	13.2281	0.59927	0.0:1.0:0.0:0.0	.	107	Q6UWQ5-2	.	G	107	ENSP00000364650:A107G	ENSP00000364650:A107G	A	+	2	0	LYZL1	29621496	0.648000	0.27313	0.023000	0.16930	0.010000	0.07245	1.808000	0.38912	2.390000	0.81377	0.655000	0.94253	GCC	.		0.542	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		G	29581490	C	G	29581490	3	3	30	1	0	0	0	0	1	0	0	0	9167	739	26	3	330	3	LYZL1	10	29581490	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	17775972	29581490	105953257	142	5417											
ERCC6	2074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	50714007	50714007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactttcctcagaatcgtcCtccagcttcagacgtttctc	5	15	4	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:50714007C>A	ENST00000355832.5	-	6	1527	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D		NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	483					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGAATCGTCCTCCAGCTTCA	0.368								Direct reversal of damage;Nucleotide excision repair (NER)																													p.M483I		.											.	ERCC6-1153	0			c.G1449T						.						153	142	145					10																	50714007		2203	4300	6503	SO:0001583	missense	2074	exon6			ATCGTCCTCCAGC	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1449G>T	10.37:g.50714007C>A	ENSP00000348089:p.Glu483Asp	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	41	13	NM_000124	0	0	0	0	0	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521304	0.13005	.	.	ENSG00000225830	ENST00000355832	D	0.93763	-3.28	5.89	0.791	0.18619	.	.	.	.	.	D	0.85366	0.5680	L	0.29908	0.895	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.71041	-0.4707	9	0.24483	T	0.36	-19.0494	4.8918	0.13731	0.1511:0.4169:0.0:0.4319	.	483	Q03468	ERCC6_HUMAN	D	483	ENSP00000348089:E483D	ENSP00000348089:E483D	E	-	3	2	ERCC6	50384013	0.982000	0.34865	0.384000	0.26145	0.176000	0.22953	0.149000	0.16243	-0.107000	0.12088	-0.302000	0.09304	GAG	.		0.368	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		A	50714007	C	A	50714007	3	1	30	1	0	0	0	0	1	0	0	0	5233	680	24	3	3096	3	ERCC6	10	50714007	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	21132517	50714007	84820740	143	5418											
PGBD3	267004	broad.mit.edu;bcgsc.ca	37	chr10	50723715	50723715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaagagggcttgaataCcatttctttccacggattga	8	8	1	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:50723715C>A	ENST00000374127.3	-	2	1647	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C	PGBD3_ENST00000508005.2_Missense_Mutation_p.W482C|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.W950C|PGBD3_ENST00000603152.1_Missense_Mutation_p.W950C|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.W950C|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	482										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGCTTGAATACCATTTCTTTC	0.398																																					p.I482I		.											.	PGBD3-109	0			c.A1446T						.						151	142	145					10																	50723715		2203	4300	6503	SO:0001583	missense	267004	exon2			TGAATACCATTTC	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1446G>T	10.37:g.50723715C>A	ENSP00000363242:p.Trp482Cys	Somatic	55	1		WXS	Illumina GAIIx	Phase_I	62	18	NM_170753	0	0	2	2	0	B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298991	0.40694	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	0.468	-0.558	0.11796	.	.	.	.	.	T	0.49236	0.1545	M	0.74467	2.265	0.35055	D	0.760995	D;D	0.89917	0.997;1.0	D;D	0.97110	0.971;1.0	T	0.56300	-0.8002	8	0.59425	D	0.04	-8.8781	.	.	.	.	950;482	E7EV46;Q8N328	.;PGBD3_HUMAN	C	482;482;950;950	ENSP00000363242:W482C;ENSP00000426963:W482C;ENSP00000423550:W950C;ENSP00000387966:W950C	ENSP00000387966:W950C	W	-	3	0	PGBD3;RP11-123B3.6	50393721	0.994000	0.37717	0.673000	0.29887	0.824000	0.46624	0.777000	0.26718	-0.344000	0.08338	-0.339000	0.08088	TGG	.		0.398	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			A	50723715	C	A	50723715	3	1	30	1	0	0	0	0	1	0	0	0	11821	508	18	3	339	3	PGBD3	10	50723715	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	9708	50723715	84811032	144	5419											
HECTD2	143279	hgsc.bcm.edu	37	chr10	93170250	93170250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctggtggtggcggcgCccgcgcctgaggagaggaaa	18	12	0	2	rs7081569		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:93170250C>G	ENST00000298068.5	+	1	149	c.55C>G	c.(55-57)Ccc>Gcc	p.P19A	HECTD2_ENST00000371681.4_Missense_Mutation_p.P19A|HECTD2_ENST00000446394.1_Missense_Mutation_p.P19A	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	19			P -> A (in dbSNP:rs7081569). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTGGCGGCGCCCGCGCCTGA	0.761													G|||	5008	1	1	1	5008	,	,		7483	1		1	False		,,,				2504	1				p.P19A	NSCLC(12;376 469 1699 39910 41417)	.											.	HECTD2-658	0			c.C55G						.						2	2	2					10																	93170250		1173	2544	3717	SO:0001583	missense	143279	exon1			GCGGCGCCCGCGC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.55C>G	10.37:g.93170250C>G	ENSP00000298068:p.Pro19Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_182765	0	0	0	1	1	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	1998	0.9148351648351648	429	0.8719512195121951	335	0.925414364640884	529	0.9248251748251748	705	0.9300791556728232	g	1.760	-0.486925	0.04352	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.36699	1.5;1.24;1.5	2.37	2.37	0.29283	.	0.964307	0.08409	N	0.950145	T	0.00012	0.0000	N	0.00538	-1.39	0.46241	P	0.001052000000000053	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32534	-0.9903	9	0.02654	T	1	.	7.1033	0.25351	0.0:0.2826:0.7174:0.0	rs7081569	19;19;19	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	A	19	ENSP00000401023:P19A;ENSP00000360746:P19A;ENSP00000298068:P19A	ENSP00000298068:P19A	P	+	1	0	HECTD2	93160230	0.858000	0.29795	0.231000	0.23993	0.735000	0.41995	-0.544000	0.06077	0.556000	0.29098	-0.370000	0.07254	CCC	C|0.154;G|0.846		0.761	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			G	93170250	C	G	93170250	3	3	30	1	0	0	0	0	1	0	0	0	7067	739	26	3	57	3	HECTD2	10	93170250	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	42446535	93170250	42364497	145	5420											
NDUFB8	4714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	102289594	102289594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggactcccaagaccccggcCctggccaccgccatcttcac	8	20	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:102289594C>A	ENST00000299166.4	-	1	27	c.15G>T	c.(13-15)agG>agT	p.R5S	NDUFB8_ENST00000531258.1_Missense_Mutation_p.R5S|NDUFB8_ENST00000557395.1_Missense_Mutation_p.R5S|NDUFB8_ENST00000370320.4_Missense_Mutation_p.R5S|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000370322.1_Intron	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	5					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)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		AGACCCCGGCCCTGGCCACCG	0.657																																					p.R5S		.											.	NDUFB8-90	0			c.G15T						.						33	37	36					10																	102289594		2203	4300	6503	SO:0001583	missense	4714	exon1			CCCGGCCCTGGCC	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"Mitochondrial respiratory chain complex / Complex I"	7703	protein-coding gene	gene with protein product	"complex I ASHI subunit"	602140	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.15G>T	10.37:g.102289594C>A	ENSP00000299166:p.Arg5Ser	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	188	118	NM_005004	1	0	109	271	161	A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	ENST00000299166.4	37	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491783	0.26774	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370320	.	.	.	5.04	0.706	0.18133	.	0.532595	0.17898	N	0.158289	T	0.18882	0.0453	N	0.24115	0.695	0.18873	N	0.999986	B	0.24823	0.112	B	0.25140	0.058	T	0.11867	-1.0570	9	0.33940	T	0.23	-7.7757	2.7302	0.05225	0.2523:0.4982:0.1233:0.1263	.	5	O95169	NDUB8_HUMAN	S	5	.	ENSP00000299166:R5S	R	-	3	2	NDUFB8	102279584	0.000000	0.05858	0.742000	0.31022	0.176000	0.22953	-0.290000	0.08354	0.279000	0.22186	0.462000	0.41574	AGG	.		0.657	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		A	102289594	C	A	102289594	3	1	30	1	0	0	0	0	1	0	0	0	10326	622	22	3	565	3	NDUFB8	10	102289594	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	9119344	102289594	33245153	146	5421											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_024886	0	0	0	2	2	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	30	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1921141	104210735	31324012	147	5422											
C10orf90	118611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr10	128193343	128193343	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcccacgcgtctggccgtGatggtgatggatgcaaaccc	15	12	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr10:128193343G>A	ENST00000284694.7	-	3	546	c.426C>T	c.(424-426)atC>atT	p.I142I	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.I95I|C10orf90_ENST00000544758.1_Silent_p.I239I|C10orf90_ENST00000356858.3_Silent_p.I95I|C10orf90_ENST00000454341.1_Silent_p.I142I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	142	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTCTGGCCGTGATGGTGATGG	0.682											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I142I		.											.	C10orf90-92	0			c.C426T						.						27	33	31					10																	128193343		2186	4283	6469	SO:0001819	synonymous_variant	118611	exon3			GGCCGTGATGGTG	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.426C>T	10.37:g.128193343G>A		Somatic	14	0	1563	WXS	Illumina GAIIx	Phase_I	15	5	NM_001004298	0	0	0	0	0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1																																																																																			.		0.682	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		A	128193343	G	A	128193343	2	1	30	1	0	0	0	0	0	0	0	1	1628	1280	45	3		3	C10orf90	10	128193343	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	23982608	128193343	7341404	148	5423											
C11orf35	256329	hgsc.bcm.edu	37	chr11	556063	556063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggaacgggctcccggCtcgaggacgcgcgcagcggc	20	13	0	0	rs144614541	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:556063C>T	ENST00000329451.3	-	11	1372	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		437	LTD.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTCCCGGCTCGAGGACGC	0.796													C|||	127	0.0253594	0.0242	0.0288	5008	,	,		7467	0.001		0.0487	False		,,,				2504	0.0256				p.S437N		.											.	C11orf35-69	0			c.G1310A						.	C	ASN/SER	77,3207		1,75,1566	8	11	10		1310	2.9	0	11	dbSNP_134	10	266,6736		7,252,3242	no	missense	C11orf35	NM_173573.2	46	8,327,4808	TT,TC,CC		3.7989,2.3447,3.3346	benign	437/635	556063	343,9943	1642	3501	5143	SO:0001583	missense	256329	exon11			TCCCGGCTCGAGG																												ENST00000329451.3:c.1310G>A	11.37:g.556063C>T	ENSP00000331167:p.Ser437Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_173573	0	0	0	3	3		Missense_Mutation	SNP	ENST00000329451.3	37	CCDS7701.1	69	0.03159340659340659	15	0.03048780487804878	13	0.03591160220994475	0	0.0	41	0.05408970976253298	C	12.87	2.068734	0.36470	0.023447	0.037989	ENSG00000185522	ENST00000329451	D	0.98455	-4.94	3.83	2.91	0.33838	Intermediate filament, C-terminal (1);	0.633514	0.13334	N	0.395698	T	0.76004	0.3927	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.21917	0.037	T	0.80091	-0.1527	10	0.30078	T	0.28	-8.6787	9.1323	0.36852	0.0:0.8854:0.0:0.1146	.	437	Q8IXW0	CK035_HUMAN	N	437	ENSP00000331167:S437N	ENSP00000331167:S437N	S	-	2	0	C11orf35	546063	0.000000	0.05858	0.027000	0.17364	0.018000	0.09664	0.369000	0.20416	2.143000	0.66587	0.561000	0.74099	AGC	C|0.968;T|0.032		0.796	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			T	556063	C	T	556063	3	4	30	1	0	0	0	0	1	0	0	0	1643	797	28	3	610	3	C11orf35	11	556063	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		556063	134450453	149	5424											
IRF7	3665	hgsc.bcm.edu	37	chr11	615103	615103	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggggtccccaccttgaaGatgcgcgcgtcggcctcgct	14	15	0	2	rs113083699	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:615103G>A	ENST00000397574.2	-	3	546	c.177C>T	c.(175-177)atC>atT	p.I59I	IRF7_ENST00000330243.5_Silent_p.I72I|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Silent_p.I59I|IRF7_ENST00000397566.1_Silent_p.I72I|IRF7_ENST00000397570.1_Silent_p.I59I	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	59					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCTTGAAGATGCGCGCGT	0.721													G|||	203	0.0405351	0.0772	0.0375	5008	,	,		12225	0.001		0.0527	False		,,,				2504	0.0215				p.I72I		.											.	IRF7-90	0			c.C216T						.	G	,,	153,3775		1,151,1812	5	6	6		177,177,216	3.6	1	11	dbSNP_132	6	310,7558		4,302,3628	no	coding-synonymous,coding-synonymous,coding-synonymous	IRF7	NM_001572.3,NM_004029.2,NM_004031.2	,,	5,453,5440	AA,AG,GG		3.94,3.8951,3.9251	,,	59/504,59/475,72/517	615103	463,11333	1964	3934	5898	SO:0001819	synonymous_variant	3665	exon1			CTTGAAGATGCGC	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.177C>T	11.37:g.615103G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_004031	0	0	0	0	0	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																			G|0.949;A|0.051		0.721	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		A	615103	G	A	615103	2	1	30	1	0	0	0	0	0	0	0	1	7862	932	33	3		3	IRF7	11	615103	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	59040	615103	134391413	150	5425											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	143	15	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	30	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	638877	1253980	133752536	151	5426											
MUC5B	727897	bcgsc.ca	37	chr11	1272245	1272245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccagtgctgaccagcaCggccaccacacccgcagcca	8	21	0	1	rs2943511	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:1272245C>T	ENST00000529681.1	+	31	14193	c.14135C>T	c.(14134-14136)aCg>aTg	p.T4712M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4715M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4712	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		T -> M (in dbSNP:rs2943511). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctgaccagcacggccaccaca	0.617													c|||	356	0.0710863	0.0295	0.1138	5008	,	,		18081	0.0496		0.0974	False		,,,				2504	0.092				p.T4712M		.											.	.	0			c.C14135T						.	C	MET/THR	77,4207		2,73,2067	110	141	131		14135	-3.3	0	11	dbSNP_101	131	629,7823		39,551,3636	yes	missense	MUC5B	NM_002458.2	81	41,624,5703	TT,TC,CC		7.442,1.7974,5.5433		4712/5763	1272245	706,12030	2142	4226	6368	SO:0001583	missense	727897	exon31			CCAGCACGGCCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14135C>T	11.37:g.1272245C>T	ENSP00000436812:p.Thr4712Met	Somatic	735	4		WXS	Illumina GAIIx	Phase_I	813	20	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	154	0.07051282051282051	9	0.018292682926829267	38	0.10497237569060773	43	0.07517482517482517	64	0.08443271767810026	-	2.685	-0.274526	0.05679	0.017974	0.07442	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.19394	2.15;2.33	1.65	-3.31	0.04988	.	.	.	.	.	T	0.00412	0.0013	M	0.75264	2.295	0.80722	P	0.0	D	0.60160	0.987	B	0.35413	0.202	T	0.06023	-1.0850	8	0.87932	D	0	.	2.2239	0.03979	0.177:0.497:0.176:0.1499	rs2943511	4715	E9PBJ0	.	M	4712;4715;4656;485	ENSP00000436812:T4712M;ENSP00000415793:T4715M	ENSP00000343037:T4656M	T	+	2	0	MUC5B	1228821	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-5.903000	0.00091	-0.636000	0.05524	0.194000	0.17425	ACG	C|0.930;T|0.070		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1272245	C	T	1272245	3	4	30	1	0	0	0	0	1	0	0	0	10017	536	19	1	14266	1	MUC5B	11	1272245	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	18265	1272245	133734271	152	5427											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651158	1651169	+	In_Frame_Del	DEL	GGCTGTGGCTCT	GGCTGTGGCTCT	-													gctgtggctccggctgtggaGgctgtggctctggctgtggg					rs71454095|rs71454094	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:1651158_1651169delGGCTGTGGCTCT	ENST00000399676.2	+	1	126_137	c.88_99delGGCTGTGGCTCT	c.(88-99)ggctgtggctctdel	p.GCGS30del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						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)		cggctgtggaggctgtggctctggctgtgggg	0.708																																					p.30_33del		.											.	KRTAP5-5-23	0			c.88_99del						.			96,3734		5,86,1824						0.1	0			33	221,7503		7,207,3648	no	coding	KRTAP5-5	NM_001001480.2		12,293,5472	A1A1,A1R,RR		2.8612,2.5065,2.7436				317,11237				SO:0001651	inframe_deletion	439915	exon1			TGTGGAGGCTGTG	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.88_99delGGCTGTGGCTCT	11.37:g.1651158_1651169delGGCTGTGGCTCT	ENSP00000382584:p.Gly30_Ser33del	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	149	12	NM_001001480	0	0	0	0	0	A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.708	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			-	1651169	GGCTGTGGCTCT	-	1651158	7	5	30	1	0	1	0	1	0	0	0	0	8592	1000	35	0	90	0	KRTAP5-5	11	1651158	In_Frame_Del	DEL	GGCTGTGGCTCT	TCGA-OR-A5K9-01A-11D-A29I-10	378913	1651158	133355358	153	5428											
MRGPRE	116534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	3250000	3250000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgttggcggcccccacGtgctgtccagcttctctggg	14	16	1	0	rs530383366		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:3250000G>A	ENST00000389832.5	-	2	336	c.30C>T	c.(28-30)caC>caT	p.H10H	MRGPRE_ENST00000436689.2_Silent_p.H9H|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	10						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)		CGGCCCCCACGTGCTGTCCAG	0.662													A|||	1	0.000199681	0	0	5008	,	,		17735	0		0	False		,,,				2504	0.001				p.H10H		.											.	MRGPRE-136	0			c.C30T						.						23	25	24					11																	3250000		1962	4140	6102	SO:0001819	synonymous_variant	116534	exon2			CCCCACGTGCTGT	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.30C>T	11.37:g.3250000G>A		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	60	55	NM_001039165	0	0	0	0	0	Q2M1V7	Silent	SNP	ENST00000389832.5	37																																																																																				.		0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		A	3250000	G	A	3250000	2	1	30	1	0	0	0	0	0	0	0	1	9802	1136	40	1		1	MRGPRE	11	3250000	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1598842	3250000	131756516	154	5429											
OR51A4	401666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	4967624	4967624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtattgagagccttaAgctgctcctttttggatgca	9	9	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:4967624A>C	ENST00000380373.2	-	1	732	c.707T>G	c.(706-708)cTt>cGt	p.L236R	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	236						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)		GAGAGCCTTAAGCTGCTCCTT	0.478																																					p.L236R		.											.	OR51A4-71	0			c.T707G						.						135	124	128					11																	4967624		2201	4298	6499	SO:0001583	missense	401666	exon1			GCCTTAAGCTGCT	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.707T>G	11.37:g.4967624A>C	ENSP00000369731:p.Leu236Arg	Somatic	872	0		WXS	Illumina GAIIx	Phase_I	718	333	NM_001005329	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390978	0.25118	.	.	ENSG00000205497	ENST00000380373	T	0.70045	-0.45	3.44	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74176	0.3682	L	0.58810	1.83	0.09310	N	1	D	0.60575	0.988	D	0.69479	0.964	T	0.60271	-0.7296	9	0.52906	T	0.07	.	6.9696	0.24642	0.6327:0.0:0.0:0.3673	.	236	Q8NGJ6	O51A4_HUMAN	R	236	ENSP00000369731:L236R	ENSP00000369731:L236R	L	-	2	0	OR51A4	4924200	0.003000	0.15002	0.120000	0.21714	0.735000	0.41995	0.800000	0.27042	0.495000	0.27882	0.392000	0.25879	CTT	.		0.478	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		C	4967624	A	C	4967624	3	2	30	1	0	0	0	0	1	0	0	0	11126	72	3	5	236	5	OR51A4	11	4967624	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1717624	4967624	130038892	155	5430											
MICALCL	84953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	12315183	12315183	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaactttcggaggcgaGccgtagcccaaggagcaccc	11	16	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:12315183G>C	ENST00000256186.2	+	3	496	c.205G>C	c.(205-207)Gcc>Ccc	p.A69P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	69	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCGGAGGCGAGCCGTAGCCCA	0.567																																					p.A69P		.											.	MICALCL-91	0			c.G205C						.						139	146	144					11																	12315183		1937	4128	6065	SO:0001583	missense	84953	exon3			AGGCGAGCCGTAG	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.205G>C	11.37:g.12315183G>C	ENSP00000256186:p.Ala69Pro	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	109	55	NM_032867	0	0	0	0	0	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246426	0.39697	.	.	ENSG00000133808	ENST00000256186	T	0.07567	3.18	5.71	2.75	0.32379	.	0.324258	0.22323	N	0.061575	T	0.09113	0.0225	L	0.32530	0.975	0.09310	N	1	P	0.43909	0.821	P	0.45681	0.49	T	0.14476	-1.0471	10	0.41790	T	0.15	.	9.9938	0.41887	0.2539:0.0:0.7461:0.0	.	69	Q6ZW33	MICLK_HUMAN	P	69	ENSP00000256186:A69P	ENSP00000256186:A69P	A	+	1	0	MICALCL	12271759	0.025000	0.19082	0.001000	0.08648	0.018000	0.09664	0.982000	0.29539	0.061000	0.16311	-0.797000	0.03246	GCC	.		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		C	12315183	G	C	12315183	3	2	30	1	0	0	0	0	1	0	0	0	9610	971	34	3	211	3	MICALCL	11	12315183	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7347559	12315183	122691333	156	5431											
KCNK7	10089	broad.mit.edu;bcgsc.ca	37	chr11	65360508	65360508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgtcctgaagctggggCcgcgggcggcagggtgctca	19	11	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:65360508C>T	ENST00000340313.4	-	3	1115	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	298					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)|liver(1)|lung(1)	3						GAAGCTGGGGCCGCGGGCGGC	0.627																																					p.A298T		.											.	KCNK7-90	0			c.G892A						.						31	30	31					11																	65360508		2201	4297	6498	SO:0001583	missense	10089	exon3			CTGGGGCCGCGGG	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.892G>A	11.37:g.65360508C>T	ENSP00000344820:p.Ala298Thr	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_033347	0	0	0	0	0	Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	CCDS31608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.211016|2.211016	0.39102|0.39102	.|.	.|.	ENSG00000173338|ENSG00000173338	ENST00000340313|ENST00000530380	T|.	0.10005|.	2.92|.	4.7|4.7	1.42|1.42	0.22433|0.22433	.|.	0.572554|.	0.15630|.	N|.	0.252453|.	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.16166|.	0.016|.	B|.	0.12837|.	0.008|.	T|T	0.25813|0.25813	-1.0121|-1.0121	10|5	0.21014|.	T|.	0.42|.	.|.	4.0889|4.0889	0.09960|0.09960	0.0:0.5685:0.1893:0.2422|0.0:0.5685:0.1893:0.2422	.|.	298|.	Q9Y2U2|.	KCNK7_HUMAN|.	T|D	298|62	ENSP00000344820:A298T|.	ENSP00000344820:A298T|.	A|G	-|-	1|2	0|0	KCNK7|KCNK7	65117084|65117084	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.195000|0.195000	0.23768|0.23768	-0.014000|-0.014000	0.12656|0.12656	-0.005000|-0.005000	0.14395|0.14395	0.561000|0.561000	0.74099|0.74099	GCC|GGC	.		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		T	65360508	C	T	65360508	3	4	30	1	0	0	0	0	1	0	0	0	8098	739	26	3	35	3	KCNK7	11	65360508	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	53045325	65360508	69646008	157	5432											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	30	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	449701	65810209	69196307	158	5433											
FAM181B	220382	hgsc.bcm.edu	37	chr11	82443696	82443696	+	Frame_Shift_Del	DEL	T	T	-													cgtcctccccgccgggagaaTccgcagcggcggggtacagg							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:82443696delT	ENST00000329203.3	-	1	1210	c.1076delA	c.(1075-1077)gatfs	p.D359fs		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	359	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						GCCGGGAGAATCCGCAGCGGC	0.721																																					p.D359fs		.											.	FAM181B-135	0			c.1076delA						.						2	3	2					11																	82443696		1295	3055	4350	SO:0001589	frameshift_variant	220382	exon1			GGAGAATCCGCAG	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1076delA	11.37:g.82443696delT	ENSP00000365295:p.Asp359fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_175885	0	0	0	0	0	B2RWP1	Frame_Shift_Del	DEL	ENST00000329203.3	37	CCDS31648.1																																																																																			.		0.721	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		-	82443696	T	-	82443696	7	5	30	1	0	1	0	1	0	0	0	0	5528	1435	50	0	208	0	FAM181B	11	82443696	Frame_Shift_Del	DEL	T	TCGA-OR-A5K9-01A-11D-A29I-10	16633487	82443696	52562820	159	5434											
SYTL2	54843	broad.mit.edu	37	chr11	85435193	85435193	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatatggcgatgctagagtCaattcaactttacttgtttt	7	6	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:85435193C>G	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.L1293F|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L769F|SYTL2_ENST00000525423.1_Missense_Mutation_p.L769F	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATGCTAGAGTCAATTCAACTT	0.383																																					p.L769F		.											.	SYTL2-137	0			c.G2307C						.						85	87	86					11																	85435193		2203	4299	6502	SO:0001627	intron_variant	54843	exon1			TAGAGTCAATTCA	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3191G>C	11.37:g.85435193C>G		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	41	3	NM_206927	0	0	7	7	0	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963653	0.18583	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.50277	1.38;1.39;1.4;0.75	5.81	4.89	0.63831	.	1.603350	0.03245	N	0.181032	T	0.46132	0.1377	L	0.29908	0.895	0.18873	N	0.999982	P;P;P	0.40211	0.707;0.707;0.707	B;B;B	0.40825	0.341;0.22;0.22	T	0.48305	-0.9047	9	.	.	.	-0.0421	14.2187	0.65809	0.0:0.6515:0.3484:0.0	.	769;769;769	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	F	1293;769;769;188	ENSP00000352065:L1293F;ENSP00000346576:L769F;ENSP00000432694:L769F;ENSP00000435009:L188F	.	L	-	3	2	SYTL2	85112841	0.010000	0.17322	0.055000	0.19348	0.654000	0.38779	0.827000	0.27421	1.433000	0.47394	0.650000	0.86243	TTG	.		0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		G	85435193	C	G	85435193	1	3	30	0	1	0	0	0	0	0	0	0	15530	825	29	3		3	SYTL2	11	85435193	Intron	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2991497	85435193	49571323	160	5435											
NCAM1	4684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	113103921	113103921	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagccatactccagcacagcCcaggtgcagtttgatgaacc	10	13	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:113103921C>G	ENST00000533760.1	+	12	1790	c.1191C>G	c.(1189-1191)gcC>gcG	p.A397A	NCAM1_ENST00000401611.2_Silent_p.A524A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.A515A	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	525	Ig-like C2-type 4.				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)		CCAGCACAGCCCAGGTGCAGT	0.547																																					p.A551A		.											.	NCAM1-23	0			c.C1653G						.						68	69	69					11																	113103921		2018	4172	6190	SO:0001819	synonymous_variant	4684	exon15			CACAGCCCAGGTG		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.1191C>G	11.37:g.113103921C>G		Somatic	222	0		WXS	Illumina GAIIx	Phase_I	285	123	NM_001242607	0	0	9	27	18	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37																																																																																				.		0.547	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		G	113103921	C	G	113103921	2	3	30	1	0	0	0	0	0	0	0	1	10241	610	22	3		3	NCAM1	11	113103921	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	27668728	113103921	21902595	161	5436											
BACE1	23621	hgsc.bcm.edu	37	chr11	117186506	117186506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccagggcagggcttgGgccatggtgggccccggcct	19	12	0	0	rs28917234	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr11:117186506G>A	ENST00000313005.6	-	1	466	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BACE1_ENST00000428381.2_Silent_p.A2A|BACE1_ENST00000528053.1_Silent_p.A2A|BACE1_ENST00000445823.2_Silent_p.A2A|BACE1_ENST00000513780.1_Silent_p.A2A|BACE1_ENST00000514464.1_5'UTR|AP000892.4_ENST00000504906.1_RNA	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	2					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)		GCAGGGCTTGGGCCATGGTGG	0.746													G|||	92	0.0183706	0.0023	0.0159	5008	,	,		10280	0		0.0378	False		,,,				2504	0.0409				p.A2A		.											.	BACE1-91	0			c.C6T						.	G	,,,	14,2658		0,14,1322	2	3	3		6,6,6,6	0.6	0.9	11	dbSNP_125	3	131,5129		1,129,2500	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,	1,143,3822	AA,AG,GG		2.4905,0.524,1.828	,,,	2/502,2/458,2/477,2/433	117186506	145,7787	1336	2630	3966	SO:0001819	synonymous_variant	23621	exon1			GGCTTGGGCCATG	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.6C>T	11.37:g.117186506G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	25	24	NM_138972	0	0	0	8	8	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	CCDS8383.1																																																																																			G|0.979;A|0.021		0.746	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			A	117186506	G	A	117186506	2	1	30	1	0	0	0	0	0	0	0	1	1282	1219	43	3		3	BACE1	11	117186506	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	4082585	117186506	17820010	162	5437											
FKBP4	2288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2910398	2910398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtcctgcagctctAccccaacaacaaagccgcca	7	17	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:2910398A>G	ENST00000001008.4	+	9	1335	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	383	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTGCAGCTCTACCCCAACAAC	0.587																																					p.Y383C		.											.	FKBP4-226	0			c.A1148G						.						56	62	60					12																	2910398		2203	4300	6503	SO:0001583	missense	2288	exon9			AGCTCTACCCCAA	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1148A>G	12.37:g.2910398A>G	ENSP00000001008:p.Tyr383Cys	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	147	89	NM_002014	0	0	116	298	182	D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	CCDS8512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.521303|4.521303	0.85600|0.85600	.|.	.|.	ENSG00000004478|ENSG00000004478	ENST00000539181|ENST00000001008	.|T	.|0.59364	.|0.27	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65439|0.65439	0.2691|0.2691	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.70227	.|0.968	T|T	0.69161|0.69161	-0.5218|-0.5218	5|10	.|0.72032	.|D	.|0.01	-17.5704|-17.5704	14.9117|14.9117	0.70761|0.70761	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|383	.|Q02790	.|FKBP4_HUMAN	A|C	19|383	.|ENSP00000001008:Y383C	.|ENSP00000001008:Y383C	T|Y	+|+	1|2	0|0	FKBP4|FKBP4	2780659|2780659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.875000|8.875000	0.92372|0.92372	2.117000|2.117000	0.64856|0.64856	0.459000|0.459000	0.35465|0.35465	ACC|TAC	.		0.587	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2910398	A	G	2910398	3	3	30	1	0	0	0	0	1	0	0	0	5932	391	14	4	1182	4	FKBP4	12	2910398	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		2910398	130941497	163	5438											
KRT7	3855	hgsc.bcm.edu	37	chr12	52627215	52627215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggcctcggcgcctcAcggccgcgcgtggccgtgcg	15	18	2	0	rs7308888	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:52627215A>G	ENST00000331817.5	+	1	318	c.135A>G	c.(133-135)tcA>tcG	p.S45S		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	45	Head.				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)	TCGGCGCCTCACGGCCGCGCG	0.771													g|||	4451	0.888778	0.9781	0.8473	5008	,	,		10346	0.9048		0.8191	False		,,,				2504	0.8528				p.S45S		.											.	KRT7-90	0			c.A135G						.			3161,173		1496,169,2	4	6	5		135	-5.3	0	12	dbSNP_116	5	5763,1251		2369,1025,113	no	coding-synonymous	KRT7	NM_005556.3		3865,1194,115	GG,GA,AA		17.8358,5.189,13.7611		45/470	52627215	8924,1424	1667	3507	5174	SO:0001819	synonymous_variant	3855	exon1			CGCCTCACGGCCG		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.135A>G	12.37:g.52627215A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_005556	0	0	0	0	0	Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	CCDS8822.1																																																																																			A|0.133;G|0.867		0.771	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		G	52627215	A	G	52627215	2	3	30	1	0	0	0	0	0	0	0	1	8510	146	6	4		4	KRT7	12	52627215	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	49716817	52627215	81224680	164	5439											
SOAT2	8435	hgsc.bcm.edu	37	chr12	53509339	53509340	+	Silent	DNP	GC	GC	TT													acgggcctgggctgtgcgctGctagccgcccacgccgtggt					rs34924760|rs3219200|rs3219199	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:53509339_53509340GC>TT	ENST00000301466.3	+	6	669_670	c.609_610GC>TT	c.(607-612)ctGCta>ctTTta	p.203_204LL>LL		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	203					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)	GCTGTGCGCTGCTAGCCGCCCA	0.713																																					p.A202A		.											.	SOAT2-91	0			c.C610T						.																																			SO:0001819	synonymous_variant	8435	exon6			GCGCTGCTAGCCG	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	Exception_encountered	12.37:g.53509339_53509340delinsTT		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_003578	0	0	0	0	0	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	DNP	ENST00000301466.3	37	CCDS8847.1																																																																																			C|0.787;T|0.213		0.713	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			TT	53509340	GC	TT	53509339	2	4	30	1	0	0	0	0	0	0	0	1	14956	1306	46	3		3	SOAT2	12	53509339	Silent	DNP	GC	TCGA-OR-A5K9-01A-11D-A29I-10	882124	53509339	80342556	165	5440											
CSAD	51380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53555170	53555170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaccaggaacggcacagCaccctgttgccaaaatgtag	10	12	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:53555170C>T	ENST00000444623.1	-	11	973	c.706G>A	c.(706-708)Gct>Act	p.A236T	CSAD_ENST00000453446.2_Missense_Mutation_p.A236T|CSAD_ENST00000267085.4_Missense_Mutation_p.A263T|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Missense_Mutation_p.A89T|CSAD_ENST00000379846.1_Missense_Mutation_p.A89T	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	236					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	AACGGCACAGCACCCTGTTGC	0.542																																					p.A263T	Ovarian(109;252 1546 16882 28524 44645)	.											.	CSAD-91	0			c.G787A						.						81	82	82					12																	53555170		2203	4300	6503	SO:0001583	missense	51380	exon11			GCACAGCACCCTG	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.706G>A	12.37:g.53555170C>T	ENSP00000415485:p.Ala236Thr	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	356	99	NM_015989	0	0	0	0	0	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.599900|1.599900	0.28534|0.28534	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698|ENST00000379850	T;T;T;T;T;T|.	0.37411|.	1.2;1.2;1.2;1.2;1.2;1.2|.	4.42|4.42	3.5|3.5	0.40072|0.40072	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.364166|.	0.30285|.	N|.	0.009963|.	T|T	0.61677|0.61677	0.2366|0.2366	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26363|.	0.135;0.071;0.147|.	B;B;B|.	0.35114|.	0.196;0.122;0.045|.	T|T	0.59364|0.59364	-0.7468|-0.7468	10|5	0.20046|.	T|.	0.44|.	-6.0583|-6.0583	10.743|10.743	0.46164|0.46164	0.3573:0.6427:0.0:0.0|0.3573:0.6427:0.0:0.0	.|.	263;236;89|.	Q9Y600-3;Q9Y600;Q9Y600-2|.	.;CSAD_HUMAN;.|.	T|Y	325;89;263;89;236;197;236;89|261	ENSP00000369172:A89T;ENSP00000267085:A263T;ENSP00000369175:A89T;ENSP00000415485:A236T;ENSP00000410648:A236T;ENSP00000449373:A89T|.	ENSP00000267085:A263T|.	A|C	-|-	1|2	0|0	CSAD|CSAD	51841437|51841437	0.645000|0.645000	0.27286|0.27286	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	1.257000|1.257000	0.32932|0.32932	1.161000|1.161000	0.42604|0.42604	0.555000|0.555000	0.69702|0.69702	GCT|TGC	.		0.542	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		T	53555170	C	T	53555170	3	4	30	1	0	0	0	0	1	0	0	0	3932	710	25	3	803	3	CSAD	12	53555170	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	45831	53555170	80296725	166	5441											
NFE2	4778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54686192	54686192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttggtcccccggggcAcaaggaagatggtcccatcg	12	14	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:54686192A>G	ENST00000540264.2	-	2	1597	c.1088T>C	c.(1087-1089)gTg>gCg	p.V363A	NFE2_ENST00000312156.4_Missense_Mutation_p.V363A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.V363A|NFE2_ENST00000435572.2_Missense_Mutation_p.V363A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	363					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CCCCCGGGGCACAAGGAAGAT	0.562																																					p.V363A		.											.	NFE2-226	0			c.T1088C						.						60	56	58					12																	54686192		2203	4300	6503	SO:0001583	missense	4778	exon4			CGGGGCACAAGGA	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.1088T>C	12.37:g.54686192A>G	ENSP00000439120:p.Val363Ala	Somatic	177	1		WXS	Illumina GAIIx	Phase_I	259	84	NM_001261461	0	0	0	0	0	Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564931	0.65651	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070	.	.	.	5.27	4.12	0.48240	.	0.076504	0.51477	D	0.000099	T	0.52677	0.1749	M	0.67569	2.06	0.48762	D	0.999702	P	0.38020	0.615	B	0.36186	0.219	T	0.60495	-0.7252	9	0.87932	D	0	-13.3089	8.8249	0.35050	0.9107:0.0:0.0893:0.0	.	363	Q16621	NFE2_HUMAN	A	363	.	ENSP00000312436:V363A	V	-	2	0	NFE2	52972459	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.531000	0.81973	2.125000	0.65367	0.533000	0.62120	GTG	.		0.562	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		G	54686192	A	G	54686192	3	3	30	1	0	0	0	0	1	0	0	0	10405	159	6	4	37	4	NFE2	12	54686192	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1131022	54686192	79165703	167	5442											
ESYT1	23344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56522161	56522161	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccatggaccagccctctgctCcctccgaccccactgaccag	7	21	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:56522161C>G	ENST00000394048.5	+	1	322	c.58C>G	c.(58-60)Ccc>Gcc	p.P20A	RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.P20A|ESYT1_ENST00000541590.1_Missense_Mutation_p.P20A|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	20					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						GCCCTCTGCTCCCTCCGACCC	0.716																																					p.P20A		.											.	ESYT1-95	0			c.C58G						.						32	35	34					12																	56522161		2202	4299	6501	SO:0001583	missense	23344	exon1			TCTGCTCCCTCCG	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.58C>G	12.37:g.56522161C>G	ENSP00000377612:p.Pro20Ala	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	76	17	NM_015292	0	0	43	51	8	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963900	0.53507	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.54279	0.59;0.58;0.58	4.05	4.05	0.47172	.	0.759552	0.12343	N	0.477234	T	0.38585	0.1046	N	0.22421	0.69	0.23314	N	0.99793	B;B	0.29590	0.25;0.071	B;B	0.24155	0.051;0.023	T	0.30880	-0.9963	10	0.62326	D	0.03	-6.8876	12.008	0.53270	0.0:1.0:0.0:0.0	.	20;20	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	A	20	ENSP00000377612:P20A;ENSP00000267113:P20A;ENSP00000445952:P20A	ENSP00000267113:P20A	P	+	1	0	ESYT1	54808428	0.053000	0.20554	0.335000	0.25508	0.595000	0.36748	1.550000	0.36223	2.552000	0.86080	0.561000	0.74099	CCC	.		0.716	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		G	56522161	C	G	56522161	3	3	30	1	0	0	0	0	1	0	0	0	5280	855	30	3	60	3	ESYT1	12	56522161	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1835969	56522161	77329734	168	5443											
BAZ2A	11176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57005765	57005765	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgctgaggaagctggagaGaccactgagaagactgctgg	15	8	0	4			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:57005765G>A	ENST00000551812.1	-	6	1600	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	BAZ2A_ENST00000179765.5_Silent_p.V437V|BAZ2A_ENST00000549884.1_Silent_p.V467V|BAZ2A_ENST00000379441.3_Silent_p.V439V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	469					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AAGCTGGAGAGACCACTGAGA	0.552																																					p.V469V		.											.	BAZ2A-22	0			c.C1407T						.						59	65	63					12																	57005765		1950	4160	6110	SO:0001819	synonymous_variant	11176	exon6			TGGAGAGACCACT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1407C>T	12.37:g.57005765G>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	359	44	NM_013449	0	0	49	114	65	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129925	0.21041	.	.	ENSG00000076108	ENST00000551996	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	T	0.72301	0.3443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70285	-0.4914	4	.	.	.	.	16.8048	0.85623	0.0:0.0:1.0:0.0	.	.	.	.	F	117	.	.	S	-	2	0	BAZ2A	55292032	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	1.098000	0.31000	2.756000	0.94617	0.561000	0.74099	TCT	.		0.552	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		A	57005765	G	A	57005765	2	1	30	1	0	0	0	0	0	0	0	1	1332	929	33	3		3	BAZ2A	12	57005765	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	483604	57005765	76846130	169	5444											
SLC16A7	9194	broad.mit.edu;bcgsc.ca	37	chr12	60165060	60165060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggtggtgatagcaggagGcttattatgctgtcttggaa	15	6	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:60165060G>T	ENST00000261187.4	+	3	442	c.278G>T	c.(277-279)gGc>gTc	p.G93V	SLC16A7_ENST00000547379.1_Missense_Mutation_p.G93V|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G93V|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G93V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	93					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATAGCAGGAGGCTTATTATGC	0.458																																					p.G93V		.											.	SLC16A7-91	0			c.G278T						.						247	216	227					12																	60165060		2203	4300	6503	SO:0001583	missense	9194	exon4			CAGGAGGCTTATT	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.278G>T	12.37:g.60165060G>T	ENSP00000261187:p.Gly93Val	Somatic	261	1		WXS	Illumina GAIIx	Phase_I	720	47	NM_001270622	0	0	2	2	0	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855274	0.71719	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84162	0.0429	9	.	.	.	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	93	O60669	MOT2_HUMAN	V	93	ENSP00000449547:G93V;ENSP00000448071:G93V;ENSP00000448742:G93V;ENSP00000446722:G93V;ENSP00000261187:G93V	.	G	+	2	0	SLC16A7	58451327	1.000000	0.71417	0.954000	0.39281	0.111000	0.19643	9.751000	0.98889	2.812000	0.96745	0.557000	0.71058	GGC	.		0.458	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		T	60165060	G	T	60165060	3	4	30	1	0	0	0	0	1	0	0	0	14458	1203	42	3	284	3	SLC16A7	12	60165060	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	3159295	60165060	73686835	170	5445											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_152435	0	0	0	1	1	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	30	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	36172123	96337183	37514712	171	5446											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	27	27	NM_152435	0	0	0	1	1	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	30	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	42	96337225	37514670	172	5447											
C12orf51	283450	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112600907	112600907	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatgggcagtgtcgggAcccccatctttgcaggggca	15	12	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr12:112600907A>C	ENST00000430131.2	-	74	12938	c.11793T>G	c.(11791-11793)ggT>ggG	p.G3931G	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Silent_p.G4207G|HECTD4_ENST00000377560.5_Silent_p.G4181G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3931	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)										CAGTGTCGGGACCCCCATCTT	0.627																																					p.G4219G		.											.	.	0			c.T12657G						.						97	108	105					12																	112600907		2052	4200	6252	SO:0001819	synonymous_variant	283450	exon75			GTCGGGACCCCCA	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.11793T>G	12.37:g.112600907A>C		Somatic	252	3		WXS	Illumina GAIIx	Phase_I	415	117	NM_001109662	0	0	5	7	2	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																				.		0.627	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112600907	A	C	112600907	2	2	30	1	0	0	0	0	0	0	0	1	1701	262	10	5		5	C12orf51	12	112600907	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	16263682	112600907	21250988	173	5448											
ATP8A2	51761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	26138139	26138139	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgactttgatgacccCaggctgttgaagaacattga	10	9	0	6			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr13:26138139C>A	ENST00000381655.2	+	16	1585	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	ATP8A2_ENST00000255283.8_Silent_p.P441P	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	441					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTGATGACCCCAGGCTGTTGA	0.398																																					p.P481P		.											.	ATP8A2-138	0			c.C1443A						.						118	110	113					13																	26138139		1898	4120	6018	SO:0001819	synonymous_variant	51761	exon16			TGACCCCAGGCTG	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1443C>A	13.37:g.26138139C>A		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	92	36	NM_016529	0	0	0	0	0	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																			.		0.398	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		A	26138139	C	A	26138139	2	1	30	1	0	0	0	0	0	0	0	1	1194	581	21	3		3	ATP8A2	13	26138139	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		26138139	89031739	174	5449											
DCLK1	9201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	36410236	36410236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccgactttatatcgtTctgttattgtagctggaatc	7	8	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr13:36410236T>C	ENST00000360631.3	-	8	1374	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G	DCLK1_ENST00000379893.1_Missense_Mutation_p.E81G|DCLK1_ENST00000255448.4_Missense_Mutation_p.E388G			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	388					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTTATATCGTTCTGTTATTGT	0.368																																					p.E388G		.											.	DCLK1-826	0			c.A1163G						.						252	236	241					13																	36410236		2203	4300	6503	SO:0001583	missense	9201	exon8			TATCGTTCTGTTA	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.1163A>G	13.37:g.36410236T>C	ENSP00000353846:p.Glu388Gly	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	128	47	NM_004734	0	0	0	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	T	16.49	3.137710	0.56936	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.38401	1.14;1.14;1.14	6.04	6.04	0.98038	.	0.062950	0.64402	D	0.000001	T	0.43964	0.1271	M	0.68593	2.085	0.80722	D	1	B;B;B	0.22146	0.003;0.065;0.002	B;B;B	0.31245	0.008;0.126;0.008	T	0.29671	-1.0004	10	0.44086	T	0.13	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	81;388;81	O15075-4;O15075-2;O15075-3	.;.;.	G	80;388;388;81;388	ENSP00000255448:E388G;ENSP00000353846:E388G;ENSP00000369223:E81G	ENSP00000255448:E388G	E	-	2	0	DCLK1	35308236	1.000000	0.71417	0.982000	0.44146	0.921000	0.55340	7.593000	0.82686	2.317000	0.78254	0.460000	0.39030	GAA	.		0.368	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		C	36410236	T	C	36410236	3	2	30	1	0	0	0	0	1	0	0	0	4300	1783	62	4	1070	4	DCLK1	13	36410236	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	10272097	36410236	78759642	175	5450											
MYO16	23026	hgsc.bcm.edu	37	chr13	109792825	109792825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgctgcccccggcggCgcctccgggtgacgaggacg	18	16	0	1	rs199777754	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr13:109792825C>T	ENST00000357550.2	+	31	4240	c.4199C>T	c.(4198-4200)gCg>gTg	p.A1400V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1400V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCCGGCGGCGCCTCCGGGT	0.776													C|||	29	0.00579073	0.0015	0.0086	5008	,	,		6517	0		0.0179	False		,,,				2504	0.0031				p.A1422V		.											.	MYO16-142	0			c.C4265T						.	C	VAL/ALA,VAL/ALA	6,3528		0,6,1761	3	4	3		4265,4199	-6.2	0	13		3	61,7069		0,61,3504	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	64,64	0,67,5265	TT,TC,CC		0.8555,0.1698,0.6283	benign,benign	1422/1881,1400/1859	109792825	67,10597	1767	3565	5332	SO:0001583	missense	23026	exon32			CGGCGGCGCCTCC		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4199C>T	13.37:g.109792825C>T	ENSP00000350160:p.Ala1400Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001198950	0	0	0	0	0		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	2.716	-0.267762	0.05754	0.001698	0.008555	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80909	-1.43;-1.43	4.18	-6.23	0.02052	.	1.421560	0.05654	U	0.585757	T	0.44456	0.1294	N	0.08118	0	0.09310	N	0.999997	B	0.22414	0.069	B	0.14578	0.011	T	0.34950	-0.9808	9	.	.	.	.	1.1331	0.01749	0.2674:0.1192:0.1351:0.4783	.	1400	Q9Y6X6	MYO16_HUMAN	V	1400	ENSP00000349145:A1400V;ENSP00000350160:A1400V	.	A	+	2	0	MYO16	108590826	0.972000	0.33761	0.000000	0.03702	0.005000	0.04900	2.028000	0.41088	-0.850000	0.04152	0.313000	0.20887	GCG	.		0.776	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109792825	C	T	109792825	3	4	30	1	0	0	0	0	1	0	0	0	10102	768	27	1	4321	1	MYO16	13	109792825	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	73382589	109792825	5377053	176	5451											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_005537	0	0	0	5	5	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	30	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1575491	111368316	3801562	177	5452											
DDHD1	80821	hgsc.bcm.edu	37	chr14	53619681	53619681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcgtccgggtccccgcCgggcaggtgctcgaagcagc	16	16	0	0	rs61985140	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:53619681C>T	ENST00000323669.5	-	1	135	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.G46S|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000395606.1_Missense_Mutation_p.G46S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	46					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)					GGGTCCCCGCCGGGCAGGTGC	0.761													C|||	25	0.00499201	0.0015	0.0058	5008	,	,		9768	0		0.0149	False		,,,				2504	0.0041				p.G46S		.											.	DDHD1-92	0			c.G136A						.	C	SER/GLY,SER/GLY,SER/GLY	18,4236		0,18,2109	7	10	9		136,136,136	1.6	1	14	dbSNP_129	9	138,7980		1,136,3922	no	missense,missense,missense	DDHD1	NM_001160147.1,NM_001160148.1,NM_030637.2	56,56,56	1,154,6031	TT,TC,CC		1.6999,0.4231,1.2609	benign,benign,benign	46/880,46/901,46/873	53619681	156,12216	2127	4059	6186	SO:0001583	missense	80821	exon1			CCCCGCCGGGCAG	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.136G>A	14.37:g.53619681C>T	ENSP00000327104:p.Gly46Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	48	37	NM_001160147	0	0	0	1	1	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	15	0.006868131868131868	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	11	0.014511873350923483	C	8.250	0.808901	0.16467	0.004231	0.016999	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.55	1.64	0.23874	.	0.341002	0.26297	N	0.025187	T	0.18635	0.0447	L	0.40543	1.245	0.31479	N	0.667402	B;B;B	0.13145	0.007;0.004;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.14559	-1.0468	9	0.33141	T	0.24	-0.5603	6.7849	0.23668	0.0:0.5559:0.3402:0.1039	rs61985140	46;46;46	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	46	.	ENSP00000327104:G46S	G	-	1	0	DDHD1	52689431	0.000000	0.05858	0.969000	0.41365	0.297000	0.27493	0.385000	0.20685	0.176000	0.19873	-0.479000	0.04858	GGC	C|0.993;T|0.007		0.761	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			T	53619681	C	T	53619681	3	4	30	1	0	0	0	0	1	0	0	0	4335	652	23	1	2643	1	DDHD1	14	53619681	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		53619681	53729859	178	5453											
EXD2	55218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	69704629	69704629	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaggagatgcttcaagagGctgccagcctggagaccagg	15	10	1	4			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:69704629G>C	ENST00000409018.3	+	8	1758	c.1630G>C	c.(1630-1632)Gct>Cct	p.A544P	EXD2_ENST00000449989.1_Missense_Mutation_p.A419P|EXD2_ENST00000312994.5_Missense_Mutation_p.A544P|EXD2_ENST00000409242.1_Missense_Mutation_p.A419P|EXD2_ENST00000409014.1_Missense_Mutation_p.A419P|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Missense_Mutation_p.A419P|EXD2_ENST00000409949.1_Missense_Mutation_p.A419P|EXD2_ENST00000492815.1_3'UTR	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	544							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTTCAAGAGGCTGCCAGCCT	0.527																																					p.A544P		.											.	.	0			c.G1630C						.						35	38	37					14																	69704629		2202	4300	6502	SO:0001583	missense	55218	exon8			CAAGAGGCTGCCA	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1630G>C	14.37:g.69704629G>C	ENSP00000387331:p.Ala544Pro	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	255	68	NM_001193361	0	0	2	6	4	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339779	0.81911	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.68903	0.02;-0.36;-0.36;-0.36;-0.36;0.02;-0.36	5.52	5.52	0.82312	.	0.044831	0.85682	D	0.000000	D	0.82972	0.5153	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.996	D;D;D	0.78314	0.991;0.923;0.957	D	0.83912	0.0296	10	0.72032	D	0.01	-12.7287	19.6296	0.95694	0.0:0.0:1.0:0.0	.	544;419;419	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	P	544;419;419;419;419;544;419	ENSP00000387331:A544P;ENSP00000386915:A419P;ENSP00000386762:A419P;ENSP00000386632:A419P;ENSP00000386839:A419P;ENSP00000313140:A544P;ENSP00000392177:A419P	ENSP00000313140:A544P	A	+	1	0	EXD2	68774382	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	9.268000	0.95675	2.873000	0.98535	0.563000	0.77884	GCT	.		0.527	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			C	69704629	G	C	69704629	3	2	30	1	0	0	0	0	1	0	0	0	5314	1203	42	3	1277	3	EXD2	14	69704629	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	16084948	69704629	37644911	179	5454											
ADAM21	8747	ucsc.edu;bcgsc.ca	37	chr14	70924643	70924643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataagtggcctcactTatgaaattgaacccatcagg	7	8	2	2	rs78114303		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:70924643T>C	ENST00000603540.1	+	2	685	c.427T>C	c.(427-429)Tat>Cat	p.Y143H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.Y143H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	143					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)		TGGCCTCACTTATGAAATTGA	0.433																																					p.Y143H		.											.	ADAM21-92	0			c.T427C						.						55	63	60					14																	70924643		2203	4300	6503	SO:0001583	missense	8747	exon2			CTCACTTATGAAA	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.427T>C	14.37:g.70924643T>C	ENSP00000474385:p.Tyr143His	Somatic	53	1		WXS	Illumina GAIIx	Phase_I	45	11	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	8.985	0.976280	0.18736	.	.	ENSG00000139985	ENST00000267499	T	0.15952	2.38	3.76	2.59	0.31030	Peptidase M12B, propeptide (1);	0.000000	0.39146	U	0.001443	T	0.48857	0.1523	H	0.94542	3.55	0.30013	N	0.815021	D	0.76494	0.999	D	0.85130	0.997	T	0.55774	-0.8088	10	0.87932	D	0	.	9.3062	0.37876	0.0:0.088:0.0:0.912	.	143	Q9UKJ8	ADA21_HUMAN	H	143	ENSP00000267499:Y143H	ENSP00000267499:Y143H	Y	+	1	0	ADAM21	69994396	0.998000	0.40836	0.563000	0.28383	0.010000	0.07245	3.395000	0.52558	0.610000	0.30035	-0.385000	0.06624	TAT	T|0.987;C|0.013		0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			C	70924643	T	C	70924643	3	2	30	1	0	0	0	0	1	0	0	0	243	1754	61	4	429	4	ADAM21	14	70924643	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1220014	70924643	36424897	180	5455											
ISM2	145501	hgsc.bcm.edu	37	chr14	77965094	77965094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcgccgccagcagcaGcacgcagaggaggagcccgg	16	15	0	1	rs12431905	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:77965094G>A	ENST00000342219.4	-	1	99	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	ISM2_ENST00000412904.1_Silent_p.L15L|ISM2_ENST00000493585.1_Silent_p.L15L|ISM2_ENST00000393684.3_5'UTR|ISM2_ENST00000429906.1_Silent_p.L15L	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	15						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCAGCAGCAGCACGCAGAGG	0.731													G|||	270	0.0539137	0.0061	0.1571	5008	,	,		10603	0.0129		0.0755	False		,,,				2504	0.0654				p.L15L		.											.	ISM2-91	0			c.C43T						.	G	,	51,3145		0,51,1547	3	3	3		43,43	-4.3	0	14	dbSNP_120	3	420,5934		10,400,2767	no	coding-synonymous,coding-synonymous	ISM2	NM_182509.3,NM_199296.2	,	10,451,4314	AA,AG,GG		6.61,1.5957,4.9319	,	15/293,15/572	77965094	471,9079	1598	3177	4775	SO:0001819	synonymous_variant	145501	exon1			GCAGCAGCACGCA	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.43C>T	14.37:g.77965094G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_199296	0	0	0	1	1	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																			G|0.934;A|0.066		0.731	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		A	77965094	G	A	77965094	2	1	30	1	0	0	0	0	0	0	0	1	7888	962	34	3		3	ISM2	14	77965094	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7040451	77965094	29384446	181	5456											
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641147	99641147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagcccggggctgggcaGcggcgcgggcttgcgcggga	22	11	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:99641147G>A	ENST00000357195.3	-	4	2035	c.2026C>T	c.(2026-2028)Ctg>Ttg	p.L676L	BCL11B_ENST00000443726.2_Silent_p.L482L|BCL11B_ENST00000345514.2_Silent_p.L605L	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	676					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCTGGGCAGCGGCGCGGGC	0.766			T	TLX3	T-ALL																																p.L676L		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.C2026T						.						10	10	10					14																	99641147		2082	4053	6135	SO:0001819	synonymous_variant	64919	exon4			TGGGCAGCGGCGC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2026C>T	14.37:g.99641147G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	11	NM_138576	0	0	0	0	0	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.766	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99641147	G	A	99641147	2	1	30	1	0	0	0	0	0	0	0	1	1365	962	34	3		3	BCL11B	14	99641147	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	21676053	99641147	7708393	182	5457											
CYP46A1	10858	bcgsc.ca	37	chr14	100157470	100157470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatgaggttggtggcCgtgtgctccaagatgtgttt	15	5	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:100157470C>T	ENST00000261835.3	+	2	276	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	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	58					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)				GGTTGGTGGCCGTGTGCTCCA	0.498																																					p.R58C		.											.	CYP46A1-90	0			c.C172T						.						387	304	332					14																	100157470		2203	4300	6503	SO:0001583	missense	10858	exon2			GGTGGCCGTGTGC	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.172C>T	14.37:g.100157470C>T	ENSP00000261835:p.Arg58Cys	Somatic	225	2		WXS	Illumina GAIIx	Phase_I	325	12	NM_006668	0	0	0	0	0	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.514842|2.514842	0.44763|0.44763	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.69175	.|-0.38	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.34986	.|N	.|0.003528	T|T	0.44350|0.44350	0.1289|0.1289	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.26547	.|0.152	.|B	.|0.23852	.|0.049	T|T	0.47774|0.47774	-0.9091|-0.9091	5|10	.|0.49607	.|T	.|0.09	.|.	11.097|11.097	0.48150|0.48150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58	.|Q9Y6A2	.|CP46A_HUMAN	L|C	44|58	.|ENSP00000261835:R58C	.|ENSP00000261835:R58C	P|R	+|+	2|1	0|0	CYP46A1|CYP46A1	99227223|99227223	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.203000|1.203000	0.32284|0.32284	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	CCG|CGT	.		0.498	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			T	100157470	C	T	100157470	3	4	30	1	0	0	0	0	1	0	0	0	4191	652	23	1	178	1	CYP46A1	14	100157470	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	516323	100157470	7192070	183	5458											
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	101348688	101348688	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggggaagacgaattcgAtgaagtttcgcagagatagc	15	5	0	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:101348688A>T	ENST00000534062.1	-	1	2496	c.2438T>A	c.(2437-2439)aTc>aAc	p.I813N	MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	813					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GACGAATTCGATGAAGTTTCG	0.557																																					p.I813N		.											.	RTL1-46	0			c.T2438A						.						128	119	121					14																	101348688		692	1591	2283	SO:0001583	missense	388015	exon1			AATTCGATGAAGT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2438T>A	14.37:g.101348688A>T	ENSP00000435342:p.Ile813Asn	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	138	34	NM_001134888	0	0	0	0	0	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	A	8.062	0.768305	0.15983	.	.	ENSG00000254656	ENST00000534062	T	0.44482	0.92	3.33	3.33	0.38152	.	1.559340	0.04342	N	0.354286	T	0.45074	0.1324	M	0.64997	1.995	0.09310	N	1	B	0.33379	0.41	B	0.31812	0.136	T	0.45454	-0.9260	10	0.87932	D	0	.	10.3407	0.43877	1.0:0.0:0.0:0.0	.	813	E9PKS8	.	N	813	ENSP00000435342:I813N	ENSP00000435342:I813N	I	-	2	0	RTL1	100418441	0.427000	0.25514	0.002000	0.10522	0.060000	0.15804	6.381000	0.73163	1.771000	0.52183	0.459000	0.35465	ATC	.		0.557	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101348688	A	T	101348688	3	4	30	1	0	0	0	0	1	0	0	0	13769	333	12	5	1642	5	RTL1	14	101348688	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1191218	101348688	6000852	184	5459											
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	101349080	101349080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctttccacacatcttcGgtgcggtgcccgttcacgct	10	15	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr14:101349080G>A	ENST00000534062.1	-	1	2104	c.2046C>T	c.(2044-2046)acC>acT	p.T682T	MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	682					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ACACATCTTCGGTGCGGTGCC	0.537																																					p.T682T		.											.	RTL1-46	0			c.C2046T						.						132	120	124					14																	101349080		692	1591	2283	SO:0001819	synonymous_variant	388015	exon1			ATCTTCGGTGCGG		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2046C>T	14.37:g.101349080G>A		Somatic	153	0		WXS	Illumina GAIIx	Phase_I	233	70	NM_001134888	0	0	0	0	0	E9PKS8	Silent	SNP	ENST00000534062.1	37	CCDS53910.1																																																																																			.		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		A	101349080	G	A	101349080	2	1	30	1	0	0	0	0	0	0	0	1	13769	1103	39	1		1	RTL1	14	101349080	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	392	101349080	6000460	185	5460											
RYR3	6263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	34064256	34064256	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcccgaacgcagattaaAggcgtttctcagaatattaa	7	9	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:34064256A>T	ENST00000389232.4	+	63	9022	c.8952A>T	c.(8950-8952)aaA>aaT	p.K2984N	RYR3_ENST00000415757.3_Missense_Mutation_p.K2984N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2984					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)		CGCAGATTAAAGGCGTTTCTC	0.453																																					p.K2984N		.											.	RYR3-520	0			c.A8952T						.						95	90	91					15																	34064256		1914	4125	6039	SO:0001583	missense	6263	exon63			GATTAAAGGCGTT		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.8952A>T	15.37:g.34064256A>T	ENSP00000373884:p.Lys2984Asn	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	74	68	NM_001243996	0	0	0	0	0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465545	0.63513	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96913	-4.16;-4.17	5.65	2.11	0.27256	.	0.176452	0.48767	D	0.000172	D	0.96306	0.8795	L	0.51422	1.61	0.38861	D	0.956478	B;D	0.71674	0.42;0.998	B;D	0.67900	0.198;0.954	D	0.94533	0.7738	10	0.45353	T	0.12	.	9.4939	0.38976	0.6573:0.0:0.3427:0.0	.	2984;2984	Q15413-2;Q15413	.;RYR3_HUMAN	N	2984	ENSP00000373884:K2984N;ENSP00000399610:K2984N	ENSP00000354735:K2984N	K	+	3	2	RYR3	31851548	0.995000	0.38212	0.997000	0.53966	0.789000	0.44602	0.378000	0.20569	0.203000	0.20529	0.533000	0.62120	AAA	.		0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34064256	A	T	34064256	3	4	30	1	0	0	0	0	1	0	0	0	13815	69	3	5	9202	5	RYR3	15	34064256	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		34064256	68467136	186	5461											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	30	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	29349827	63414083	39117309	187	5462											
LBXCOR1	390598	hgsc.bcm.edu	37	chr15	68120014	68120014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgcccgggaggcgtaCggcgcggggcctgctcgggg	23	12	0	0	rs62015251	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:68120014C>T	ENST00000380035.2	+	2	1906	c.1848C>T	c.(1846-1848)taC>taT	p.Y616Y	SKOR1_ENST00000554054.1_Silent_p.Y588Y|SKOR1_ENST00000554240.1_Silent_p.Y577Y|SKOR1_ENST00000389002.1_Silent_p.Y572Y|SKOR1_ENST00000341418.5_Silent_p.Y556Y			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	616					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGGAGGCGTACGGCGCGGGGC	0.716													C|||	430	0.0858626	0.0106	0.121	5008	,	,		9530	0.1101		0.1193	False		,,,				2504	0.1033				p.Y556Y		.											.	SKOR1-90	0			c.C1668T						.	C		62,3022		0,62,1480	3	4	4		1716	-1.9	0.1	15	dbSNP_129	4	460,5730		9,442,2644	no	coding-synonymous	SKOR1	NM_001031807.1		9,504,4124	TT,TC,CC		7.4313,2.0104,5.6286		572/922	68120014	522,8752	1542	3095	4637	SO:0001819	synonymous_variant	390598	exon7			GGCGTACGGCGCG		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1848C>T	15.37:g.68120014C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_001258024	0	0	0	0	0	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																				C|0.908;T|0.092		0.716	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68120014	C	T	68120014	2	4	30	1	0	0	0	0	0	0	0	1	8683	547	19	1		1	LBXCOR1	15	68120014	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	4705931	68120014	34411378	188	5463											
SCAPER	49855	broad.mit.edu	37	chr15	76998254	76998255	+	Frame_Shift_Ins	INS	-	-	T													tatccttaccttgagctgaaINStttttttctgtaactcttcc							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:76998254_76998255insT	ENST00000563290.1	-	18	2331_2332	c.2236_2237insA	c.(2236-2238)attfs	p.I746fs	SCAPER_ENST00000324767.7_Frame_Shift_Ins_p.I746fs|SCAPER_ENST00000538941.2_Frame_Shift_Ins_p.I500fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	746	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			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						CTTGAGCTGAATTTTTTTCTGT	0.317																																					p.I746fs		.											.	SCAPER-137	0			c.2237_2238insA						.																																			SO:0001589	frameshift_variant	49855	exon17			AGCTGAATTTTTT	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.2237dupA	15.37:g.76998261_76998261dupT	ENSP00000454973:p.Ile746fs	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_020843	0	0	0	0	0	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Ins	INS	ENST00000563290.1	37	CCDS53962.1																																																																																			.		0.317	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	76998255	-	T	76998254	7	5	30	1	0	1	1	0	0	0	0	0	13923	101	4	0	2025	0	SCAPER	15	76998254	Frame_Shift_Ins	INS	-	TCGA-OR-A5K9-01A-11D-A29I-10	8878240	76998254	25533138	189	5464											
FANCI	55215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	89790933	89790933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacagcagacaaactgcaaGaatttcttcaaaccctgaga	6	10	2	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:89790933G>A	ENST00000310775.7	+	2	141	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	FANCI_ENST00000567996.1_Missense_Mutation_p.E19K|FANCI_ENST00000300027.8_Missense_Mutation_p.E19K|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	19					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)					CAAACTGCAAGAATTTCTTCA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.E19K		.											.	FANCI-92	0			c.G55A						.						115	109	111					15																	89790933		2200	4299	6499	SO:0001583	missense	55215	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CTGCAAGAATTTC	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.55G>A	15.37:g.89790933G>A	ENSP00000310842:p.Glu19Lys	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	65	25	NM_001113378	0	0	0	1	1	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638990	0.29157	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.78595	-1.19;-1.19;-1.19	5.83	1.58	0.23477	.	0.484707	0.20528	N	0.090572	T	0.60379	0.2264	N	0.25144	0.715	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.43245	-0.9403	10	0.27082	T	0.32	-0.7286	8.309	0.32060	0.3332:0.0:0.6668:0.0	.	19;19	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	K	19	ENSP00000300027:E19K;ENSP00000310842:E19K;ENSP00000413249:E19K	ENSP00000300027:E19K	E	+	1	0	FANCI	87591937	0.976000	0.34144	0.775000	0.31657	0.910000	0.53928	0.520000	0.22878	0.046000	0.15833	0.561000	0.74099	GAA	.		0.408	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		A	89790933	G	A	89790933	3	1	30	1	0	0	0	0	1	0	0	0	5691	943	33	3	57	3	FANCI	15	89790933	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	12792679	89790933	12740459	190	5465											
KIF7	374654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	90176983	90176983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctccgtctcctcgcgAagccgcctctgcagctgtcc	9	18	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:90176983A>G	ENST00000394412.3	-	12	2602	c.2526T>C	c.(2524-2526)ctT>ctC	p.L842L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	842					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)			TCTCCTCGCGAAGCCGCCTCT	0.662																																					p.L842L		.											.	KIF7-523	0			c.T2526C						.						30	30	30					15																	90176983		2200	4299	6499	SO:0001819	synonymous_variant	374654	exon12			CTCGCGAAGCCGC	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.2526T>C	15.37:g.90176983A>G		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	85	36	NM_198525	0	0	2	3	1	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	CCDS32325.2																																																																																			.		0.662	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		G	90176983	A	G	90176983	2	3	30	1	0	0	0	0	0	0	0	1	8336	233	9	4		4	KIF7	15	90176983	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	386050	90176983	12354409	191	5466											
ZNF710	374655	hgsc.bcm.edu	37	chr15	90610914	90610914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaccccgaggccggagcTgaacgtggccccatatgacc	12	16	0	2	rs201968429	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr15:90610914T>G	ENST00000268154.4	+	2	796	c.545T>G	c.(544-546)cTg>cGg	p.L182R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	182	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGGCCGGAGCTGAACGTGGCC	0.706													T|||	7	0.00139776	0	0.0014	5008	,	,		14080	0		0.006	False		,,,				2504	0				p.L182R		.											.	ZNF710-90	0			c.T545G						.	T	ARG/LEU	6,4314		0,6,2154	14	18	17		545	5	1	15		17	56,8486		1,54,4216	yes	missense	ZNF710	NM_198526.2	102	1,60,6370	GG,GT,TT		0.6556,0.1389,0.482	probably-damaging	182/665	90610914	62,12800	2160	4271	6431	SO:0001583	missense	374655	exon2			CGGAGCTGAACGT	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.545T>G	15.37:g.90610914T>G	ENSP00000268154:p.Leu182Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	23	14	NM_198526	0	0	5	6	1	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	T	5.635	0.301771	0.10678	0.001389	0.006556	ENSG00000140548	ENST00000268154	T	0.09911	2.93	4.98	4.98	0.66077	.	1.108960	0.06932	N	0.811222	T	0.06280	0.0162	N	0.14661	0.345	0.35099	D	0.765053	B	0.09022	0.002	B	0.06405	0.002	T	0.13098	-1.0522	10	0.42905	T	0.14	-25.2698	12.6713	0.56868	0.0:0.0:0.0:1.0	.	182	Q8N1W2	ZN710_HUMAN	R	182	ENSP00000268154:L182R	ENSP00000268154:L182R	L	+	2	0	ZNF710	88411918	0.000000	0.05858	0.983000	0.44433	0.024000	0.10985	0.474000	0.22148	2.085000	0.62840	0.459000	0.35465	CTG	T|0.998;G|0.002		0.706	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		G	90610914	T	G	90610914	3	3	30	1	0	0	0	0	1	0	0	0	18163	1580	55	5	547	5	ZNF710	15	90610914	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	433931	90610914	11920478	192	5467											
C16orf11	146325	hgsc.bcm.edu	37	chr16	614727	614727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacggggatccaggcgGccctgagacccccggccctg	16	15	0	2	rs200682205	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:614727G>A	ENST00000409413.3	+	3	1415	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		379	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GATCCAGGCGGCCCTGAGACC	0.736													G|||	12	0.00239617	0.0038	0.0043	5008	,	,		9467	0		0.003	False		,,,				2504	0.001				p.G379D		.											.	C16orf11-23	0			c.G1136A						.	G	ASP/GLY	11,3203		0,11,1596	3	3	3		1136	-8.8	0	16		3	34,7002		1,32,3485	yes	missense	C16orf11	NM_145270.2	94	1,43,5081	AA,AG,GG		0.4832,0.3423,0.439	benign	379/572	614727	45,10205	1607	3518	5125	SO:0001583	missense	146325	exon3			CAGGCGGCCCTGA																												ENST00000409413.3:c.1136G>A	16.37:g.614727G>A	ENSP00000386499:p.Gly379Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_145270	0	0	0	0	0	B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	0.786	-0.760530	0.02996	0.003423	0.004832	ENSG00000161992	ENST00000409413	T	0.07114	3.22	4.85	-8.76	0.00830	.	1.573020	0.04035	N	0.302177	T	0.01905	0.0060	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.02654	T	1	.	3.3508	0.07151	0.2369:0.107:0.4443:0.2118	.	379	P0CG20	CP011_HUMAN	D	379	ENSP00000386499:G379D	ENSP00000386499:G379D	G	+	2	0	C16orf11	554728	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.553000	0.23391	-1.227000	0.02571	-0.373000	0.07131	GGC	.		0.736	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			A	614727	G	A	614727	3	1	30	1	0	0	0	0	1	0	0	0	1815	1203	42	3	1142	3	C16orf11	16	614727	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		614727	89740026	193	5468											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	30	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1208717	1823444	88531309	194	5469											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_178167	0	0	0	6	6	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	30	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	236230	2059674	88295079	195	5470											
SLC9A3R2	9351	hgsc.bcm.edu	37	chr16	2086500	2086500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccaggaccggctcaTtgaggtaccggcccaccagg	13	17	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:2086500T>C	ENST00000424542.2	+	3	728	c.590T>C	c.(589-591)aTt>aCt	p.I197T	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.I91T|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.I197T|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.I86T|SLC9A3R2_ENST00000565086.1_3'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	197	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GACCGGCTCATTGAGGTACCG	0.706																																					p.I197T	Ovarian(69;105 1552 17724 23473)	.											.	SLC9A3R2-23	0			c.T590C						.						9	11	11					16																	2086500		1959	4122	6081	SO:0001583	missense	9351	exon3			GGCTCATTGAGGT	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.590T>C	16.37:g.2086500T>C	ENSP00000408005:p.Ile197Thr	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	96	27	NM_004785	0	0	0	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	t	14.37	2.514184	0.44763	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.34072	1.38;1.38	4.7	4.7	0.59300	PDZ/DHR/GLGF (4);	0.269393	0.36134	N	0.002777	T	0.46560	0.1399	L	0.29908	0.895	0.27183	N	0.9606	D;D;D	0.67145	0.996;0.979;0.988	D;P;D	0.70487	0.969;0.876;0.93	T	0.40346	-0.9568	10	0.87932	D	0	-13.1029	13.3598	0.60648	0.0:0.0:0.0:1.0	.	232;197;197	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	T	197	ENSP00000408005:I197T;ENSP00000402857:I197T	ENSP00000408005:I197T	I	+	2	0	SLC9A3R2	2026501	0.959000	0.32827	0.480000	0.27341	0.077000	0.17291	6.171000	0.71926	1.752000	0.51891	0.375000	0.23000	ATT	.		0.706	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			C	2086500	T	C	2086500	3	2	30	1	0	0	0	0	1	0	0	0	14760	1493	52	4	600	4	SLC9A3R2	16	2086500	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	26826	2086500	88268253	196	5471											
MGRN1	23295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4731691	4731691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctcggacggcctgtcCcaggccagctgtcccctcgc	12	18	1	0	rs577424986		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:4731691C>T	ENST00000399577.5	+	13	1365	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	MGRN1_ENST00000415496.1_Silent_p.S403S|MGRN1_ENST00000588994.1_Silent_p.S402S|MGRN1_ENST00000262370.7_Silent_p.S424S|MGRN1_ENST00000586183.1_Silent_p.S402S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	424					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						ACGGCCTGTCCCAGGCCAGCT	0.662																																					p.S424S		.											.	MGRN1-92	0			c.C1272T						.						34	38	37					16																	4731691		2040	4169	6209	SO:0001819	synonymous_variant	23295	exon13			CCTGTCCCAGGCC	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.1272C>T	16.37:g.4731691C>T		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	121	73	NM_015246	0	0	17	45	28	A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	CCDS45402.1																																																																																			.		0.662	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			T	4731691	C	T	4731691	2	4	30	1	0	0	0	0	0	0	0	1	9597	610	22	3		3	MGRN1	16	4731691	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2645191	4731691	85623062	197	5472											
PDILT	204474	broad.mit.edu	37	chr16	20410472	20410472	+	Frame_Shift_Del	DEL	C	C	-													cagcatctgggtcaggccagCgggcgttagcactaggagac					rs372343696		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:20410472delC	ENST00000302451.4	-	2	399	c.151delG	c.(151-153)gctfs	p.A51fs		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	51					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.A51T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCAGGCCAGCGGGCGTTAGC	0.577																																					p.A51fs		.											.	PDILT-153	1	Substitution - Missense(1)	breast(1)	c.151delG						.						128	116	120					16																	20410472		2203	4300	6503	SO:0001589	frameshift_variant	204474	exon2			GGCCAGCGGGCGT		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.151delG	16.37:g.20410472delC	ENSP00000305465:p.Ala51fs	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	287	21	NM_174924	0	0	0	0	0	Q8IVQ5	Frame_Shift_Del	DEL	ENST00000302451.4	37	CCDS10584.1																																																																																			.		0.577	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		-	20410472	C	-	20410472	7	5	30	1	0	1	0	1	0	0	0	0	11713	768	27	0	1647	0	PDILT	16	20410472	Frame_Shift_Del	DEL	C	TCGA-OR-A5K9-01A-11D-A29I-10	15678781	20410472	69944281	198	5473											
PRKCB	5579	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	23847557	23847557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcaccgtgcgcttcGcccgcaaaggcgccctccgg	14	16	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:23847557G>T	ENST00000321728.7	+	1	236	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	PRKCB_ENST00000303531.7_Missense_Mutation_p.A21S|PRKCB_ENST00000498058.1_Missense_Mutation_p.A21S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	21					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGTGCGCTTCGCCCGCAAAGG	0.697																																					p.A21S		.											.	PRKCB-1530	0			c.G61T						.						57	49	52					16																	23847557		2197	4300	6497	SO:0001583	missense	5579	exon1			CGCTTCGCCCGCA	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.61G>T	16.37:g.23847557G>T	ENSP00000318315:p.Ala21Ser	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	345	134	NM_212535	0	0	0	0	0	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	g	9.520	1.108124	0.20714	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.82344	-1.6;-1.6	3.71	1.57	0.23409	.	0.159149	0.39475	U	0.001356	T	0.78233	0.4251	M	0.68593	2.085	0.44352	D	0.997248	B;P	0.46784	0.344;0.884	B;B	0.43575	0.15;0.424	T	0.70714	-0.4796	10	0.19590	T	0.45	.	7.7836	0.29078	0.0:0.1791:0.6358:0.185	.	21;21	P05771-2;P05771	.;KPCB_HUMAN	S	21	ENSP00000318315:A21S;ENSP00000305355:A21S	ENSP00000305355:A21S	A	+	1	0	PRKCB	23755058	1.000000	0.71417	0.981000	0.43875	0.007000	0.05969	2.792000	0.47837	0.141000	0.18875	-0.317000	0.08691	GCC	.		0.697	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		T	23847557	G	T	23847557	3	4	30	1	0	0	0	0	1	0	0	0	12550	1087	38	2	63	2	PRKCB	16	23847557	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	3437085	23847557	66507196	199	5474											
CACNG3	10368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24268165	24268165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccattgcagtgggcacGgactactggttatattccag	11	9	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:24268165G>A	ENST00000005284.3	+	1	1292	c.90G>A	c.(88-90)acG>acA	p.T30T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	30					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.T30T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGTGGGCACGGACTACTGGT	0.443																																					p.T30T		.											.	CACNG3-90	1	Substitution - coding silent(1)	endometrium(1)	c.G90A						.						180	175	177					16																	24268165		2197	4300	6497	SO:0001819	synonymous_variant	10368	exon1			GGGCACGGACTAC	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.90G>A	16.37:g.24268165G>A		Somatic	200	0		WXS	Illumina GAIIx	Phase_I	244	62	NM_006539	0	0	0	0	0		Silent	SNP	ENST00000005284.3	37	CCDS10620.1																																																																																			.		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24268165	G	A	24268165	2	1	30	1	0	0	0	0	0	0	0	1	2565	1103	39	1		1	CACNG3	16	24268165	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	420608	24268165	66086588	200	5475											
ITGAM	3684	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	31288327	31288327	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggagaaaagcaccttcatCaacatgaccagagtggattc	9	9	2	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:31288327C>T	ENST00000287497.8	+	11	1245	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	ITGAM_ENST00000544665.3_Silent_p.I390I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	390					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCACCTTCATCAACATGACCA	0.478																																					p.I390I		.											.	ITGAM-226	0			c.C1170T						.						73	67	69					16																	31288327		1928	4153	6081	SO:0001819	synonymous_variant	3684	exon11			CTTCATCAACATG	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1170C>T	16.37:g.31288327C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	161	14	NM_000632	0	0	0	0	0	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																			.		0.478	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31288327	C	T	31288327	2	4	30	1	0	0	0	0	0	0	0	1	7914	816	29	3		3	ITGAM	16	31288327	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7020162	31288327	59066426	201	5476											
ABCC11	85320	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	48201459	48201459	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttcagcacagtggtgacaCggtgggcaatgacgagcacg	15	9	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:48201459C>G	ENST00000394747.1	-	28	4353	c.4004G>C	c.(4003-4005)cGt>cCt	p.R1335P	ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335P|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335P|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1335	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGTGGTGACACGGTGGGCAAT	0.592																																					p.R1335P		.											.	ABCC11-95	0			c.G4004C						.						170	129	143					16																	48201459		2201	4300	6501	SO:0001583	missense	85320	exon28			GTGACACGGTGGG	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.4004G>C	16.37:g.48201459C>G	ENSP00000378230:p.Arg1335Pro	Somatic	272	1		WXS	Illumina GAIIx	Phase_I	446	127	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762881	0.49574	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.27	4.32	0.51571	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.95902	0.8916	10	0.87932	D	0	-16.8758	11.5457	0.50693	0.0:0.9131:0.0:0.0869	.	1297;1335	Q96J66-2;Q96J66	.;ABCCB_HUMAN	P	1297;1335;1335;1335	ENSP00000311326:R1297P;ENSP00000349017:R1335P;ENSP00000378231:R1335P;ENSP00000378230:R1335P	ENSP00000311326:R1297P	R	-	2	0	ABCC11	46758960	1.000000	0.71417	0.107000	0.21349	0.031000	0.12232	4.484000	0.60271	1.231000	0.43661	0.643000	0.83706	CGT	.		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		G	48201459	C	G	48201459	3	3	30	1	0	0	0	0	1	0	0	0	51	536	19	2	152	2	ABCC11	16	48201459	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	16913132	48201459	42153294	202	5477											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	30	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	9361345	57562804	32791949	203	5478											
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	76555137	76555137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgtatctttcttttttaaGacaacagcttcatctggggt	8	7	4	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:76555137G>C	ENST00000476707.1	+	15	2614	c.2475G>C	c.(2473-2475)aaG>aaC	p.K825N	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.K773N|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.K749N|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.K821N|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	822	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCTTTTTTAAGACAACAGCTT	0.403																																					p.K749N		.											.	CNTNAP4-70	0			c.G2247C						.						235	223	227					16																	76555137		1818	4069	5887	SO:0001583	missense	85445	exon15			TTTTAAGACAACA	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.2475G>C	16.37:g.76555137G>C	ENSP00000417628:p.Lys825Asn	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	35	7	NM_138994	0	0	0	0	0	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	17.51	3.408521	0.62399	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.99	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	D	0.000563	D	0.87569	0.6210	.	.	.	0.44871	D	0.997883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.87512	0.2440	9	0.87932	D	0	.	7.7543	0.28915	0.2632:0.0:0.7368:0.0	.	749;825;822	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	N	821;773;749;825	ENSP00000306893:K821N;ENSP00000439733:K773N;ENSP00000418741:K749N;ENSP00000417628:K825N	ENSP00000306893:K821N	K	+	3	2	CNTNAP4	75112638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.317000	0.43770	1.337000	0.45525	0.561000	0.74099	AAG	.		0.403	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		C	76555137	G	C	76555137	3	2	30	1	0	0	0	0	1	0	0	0	3656	933	33	3	2541	3	CNTNAP4	16	76555137	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	18992333	76555137	13799616	204	5479											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	30	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5K9-01A-11D-A29I-10	12044560	88599697	1755056	205	5480											
RPL13	6137	hgsc.bcm.edu	37	chr16	89627671	89627671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcgcgccgcatcgcCccgcgccccgcgtcgggtcc	14	21	0	0	rs174035	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000452368.3_Silent_p.A47A|SNORD68_ENST00000363214.1_RNA|RPL13_ENST00000567815.1_Silent_p.A47A	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3	4	3		141,141	0.9	1	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001243131	2	3	1256	2143	882	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627671	C	T	89627671	2	4	30	1	0	0	0	0	0	0	0	1	13604	610	22	3		3	RPL13	16	89627671	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1027974	89627671	727082	206	5481											
ZZEF1	23140	hgsc.bcm.edu	37	chr17	4046101	4046101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggggtcgtgcccgagAccgcggcccagtcctggtgt	18	14	0	1	rs1454121	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:4046101A>G	ENST00000381638.2	-	1	213	c.89T>C	c.(88-90)gTc>gCc	p.V30A	ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000575251.1_5'Flank|CYB5D2_ENST00000573984.1_5'Flank|CYB5D2_ENST00000301391.3_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	30			V -> A (in dbSNP:rs1454121). {ECO:0000269|PubMed:14702039}.				calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGTGCCCGAGACCGCGGCCCA	0.746													A|||	4028	0.804313	0.4781	0.8617	5008	,	,		11055	1		0.8529	False		,,,				2504	0.953				p.V30A		.											.	ZZEF1-93	0			c.T89C						.						2	2	2					17																	4046101		1609	3070	4679	SO:0001583	missense	23140	exon1			CCCGAGACCGCGG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.89T>C	17.37:g.4046101A>G	ENSP00000371051:p.Val30Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	1773	0.8118131868131868	254	0.516260162601626	308	0.850828729281768	572	1.0	639	0.8430079155672823	A	12.64	1.999923	0.35320	.	.	ENSG00000074755	ENST00000381638	T	0.18810	2.19	4.8	1.17	0.20885	.	0.614467	0.15724	N	0.247743	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20107	-1.0285	9	0.33940	T	0.23	-2.2642	0.9962	0.01467	0.1675:0.1675:0.1581:0.5069	rs1454121	30;30	O43149-3;O43149	.;ZZEF1_HUMAN	A	30	ENSP00000371051:V30A	ENSP00000371051:V30A	V	-	2	0	ZZEF1	3992850	0.343000	0.24818	0.021000	0.16686	0.882000	0.50991	0.278000	0.18753	0.760000	0.33108	-0.527000	0.04329	GTC	A|0.188;G|0.812		0.746	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		G	4046101	A	G	4046101	3	3	30	1	0	0	0	0	1	0	0	0	18303	275	10	4	9016	4	ZZEF1	17	4046101	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10		4046101	77149109	207	5482											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	30	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	647241	4693342	76501868	208	5483											
MYH8	4626	bcgsc.ca	37	chr17	10296486	10296486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactttggagttgggaaacGtcattttctaatttcttctt	7	7	5	0	rs33969260	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:10296486G>A	ENST00000403437.2	-	36	5302	c.5208C>T	c.(5206-5208)gaC>gaT	p.D1736D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1736					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTTGGGAAACGTCATTTTCTA	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	478	0.0954473	0.0212	0.1383	5008	,	,		19575	0.002		0.2942	False		,,,				2504	0.0573				p.D1736D		.											.	MYH8-101	0			c.C5208T						.	G		239,4167	140.8+/-176.2	7,225,1971	267	240	249		5208	1.8	1	17	dbSNP_126	249	2099,6501	362.3+/-332.7	268,1563,2469	no	coding-synonymous	MYH8	NM_002472.2		275,1788,4440	AA,AG,GG		24.407,5.4244,17.9763		1736/1938	10296486	2338,10668	2203	4300	6503	SO:0001819	synonymous_variant	4626	exon36	Familial Cancer Database	Carney Complex Variant	GGAAACGTCATTT		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.5208C>T	17.37:g.10296486G>A		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	96	5	NM_002472	0	0	0	0	0	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																			G|0.826;A|0.174		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10296486	G	A	10296486	2	1	30	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MYH8	17	10296486	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	5603144	10296486	70898724	209	5484											
IGFBP4	3487	hgsc.bcm.edu	37	chr17	38600092	38600092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccgaggagaagctGgcgcgctgccgcccccccgt	13	19	0	1	rs598892	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:38600092G>A	ENST00000269593.4	+	1	380	c.105G>A	c.(103-105)ctG>ctA	p.L35L	IGFBP4_ENST00000542955.1_Intron	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGAGAAGCTGGCGCGCTGCC	0.771													G|||	1792	0.357827	0.0386	0.5	5008	,	,		9796	0.4752		0.3946	False		,,,				2504	0.5297				p.L35L	GBM(160;940 3581 26177)	.											.	IGFBP4-522	0			c.G105A						.	G		266,3270		24,218,1526	3	3	3		105	4	1	17	dbSNP_83	3	2267,4893		352,1563,1665	no	coding-synonymous	IGFBP4	NM_001552.2		376,1781,3191	AA,AG,GG		31.662,7.5226,23.6818		35/259	38600092	2533,8163	1768	3580	5348	SO:0001819	synonymous_variant	3487	exon1			GAAGCTGGCGCGC	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.105G>A	17.37:g.38600092G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_001552	0	0	0	1	1	A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	37	CCDS11367.1																																																																																			G|0.645;A|0.355		0.771	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		A	38600092	G	A	38600092	2	1	30	1	0	0	0	0	0	0	0	1	7608	1335	47	3		3	IGFBP4	17	38600092	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	28303606	38600092	42595118	210	5485											
CNTD1	124817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40957779	40957779	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcttgaatttcctccaggctCtaggctatctacacactaaa	5	12	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:40957779C>G	ENST00000588408.1	+	4	733	c.457C>G	c.(457-459)Cta>Gta	p.L153V	CNTD1_ENST00000588527.1_Missense_Mutation_p.L70V|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	153	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCTCCAGGCTCTAGGCTATCT	0.408																																					p.L153V		.											.	CNTD1-90	0			c.C457G						.						122	108	113					17																	40957779		2203	4300	6503	SO:0001583	missense	124817	exon4			CAGGCTCTAGGCT	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.457C>G	17.37:g.40957779C>G	ENSP00000465204:p.Leu153Val	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	60	37	NM_173478	0	0	0	0	0	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022137	0.07634	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.78	2.76	0.32466	Cyclin, N-terminal (1);Cyclin-like (2);	0.246207	0.34959	N	0.003552	T	0.25344	0.0616	L	0.46157	1.445	0.22639	N	0.998906	P	0.42296	0.775	B	0.43658	0.426	T	0.17471	-1.0368	9	0.02654	T	1	-5.9324	4.4527	0.11628	0.0:0.4079:0.2899:0.3022	.	153	Q8N815	CNTD1_HUMAN	V	153	.	ENSP00000316647:L153V	L	+	1	2	CNTD1	38211305	0.009000	0.17119	0.887000	0.34795	0.235000	0.25334	0.017000	0.13399	0.804000	0.34136	-0.142000	0.14014	CTA	.		0.408	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		G	40957779	C	G	40957779	3	3	30	1	0	0	0	0	1	0	0	0	3642	912	32	3	471	3	CNTD1	17	40957779	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2357687	40957779	40237431	211	5486											
AARSD1	80755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	41105767	41105767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaatctcattggcaatgaTattcatgaactctgaatcac	5	11	4	3			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:41105767T>G	ENST00000427569.2	-	10	1017	c.982A>C	c.(982-984)Atc>Ctc	p.I328L	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.I441L|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.I411L|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.I502L|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.I502L	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	328					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGCAATGATATTCATGAAC	0.512																																					p.I502L		.											.	.	0			c.A1504C						.						167	139	148					17																	41105767		2203	4300	6503	SO:0001583	missense	100885850	exon15			CAATGATATTCAT	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.982A>C	17.37:g.41105767T>G	ENSP00000400870:p.Ile328Leu	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	151	16	NM_001136042	0	0	18	20	2	B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	t	19.32	3.804297	0.70682	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T	0.40476	1.03;1.03	5.36	5.36	0.76844	.	0.120560	0.53938	D	0.000054	T	0.39545	0.1082	L	0.52126	1.63	0.36268	D	0.854963	B;B;B;B	0.12013	0.005;0.002;0.002;0.0	B;B;B;B	0.14023	0.01;0.006;0.008;0.005	T	0.43718	-0.9374	9	0.33141	T	0.24	-25.2486	15.525	0.75898	0.0:0.0:0.0:1.0	.	502;411;459;328	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	L	441;502;502;328;411	ENSP00000386621:I502L;ENSP00000409924:I502L	ENSP00000353355:I441L	I	-	1	0	AARSD1	38359293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.245000	0.73994	0.454000	0.30748	ATC	.		0.512	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		G	41105767	T	G	41105767	3	3	30	1	0	0	0	0	1	0	0	0	21	1406	49	5	268	5	AARSD1	17	41105767	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	147988	41105767	40089443	212	5487											
EPN3	55040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	48614027	48614027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacccctggggcccccctaGttcgctcatgtccgagatcg	11	16	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:48614027G>T	ENST00000268933.3	+	2	689	c.110G>T	c.(109-111)aGt>aTt	p.S37I	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Intron|EPN3_ENST00000541226.1_Intron	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	37	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCCCCCTAGTTCGCTCATG	0.607																																					p.S37I		.											.	EPN3-91	0			c.G110T						.						67	66	66					17																	48614027		2203	4300	6503	SO:0001583	missense	55040	exon2			CCCCTAGTTCGCT	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.110G>T	17.37:g.48614027G>T	ENSP00000268933:p.Ser37Ile	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	130	109	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371519	0.61624	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000514874;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.16	5.16	0.70880	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.091506	0.85682	D	0.000000	T	0.68137	0.2968	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74368	-0.3688	10	0.87932	D	0	.	13.9347	0.64017	0.0:0.1525:0.8475:0.0	.	37	Q9H201	EPN3_HUMAN	I	37	ENSP00000268933:S37I;ENSP00000426762:S37I;ENSP00000422682:S37I;ENSP00000422601:S37I;ENSP00000421515:S37I	ENSP00000268933:S37I	S	+	2	0	EPN3	45969026	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	5.193000	0.65120	2.399000	0.81585	0.462000	0.41574	AGT	.		0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		T	48614027	G	T	48614027	3	4	30	1	0	0	0	0	1	0	0	0	5203	1029	36	3	112	3	EPN3	17	48614027	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7508260	48614027	32581183	213	5488											
EPN3	55040	bcgsc.ca	37	chr17	48619272	48619272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaggccgacgctaaaccaGatgcgcaccggctcgccggc	14	16	0	1	rs111678638	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:48619272G>A	ENST00000268933.3	+	10	2232	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	EPN3_ENST00000537145.1_Silent_p.Q579Q|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	551	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCTAAACCAGATGCGCACCG	0.726													G|||	194	0.038738	0.003	0.0418	5008	,	,		11388	0.0188		0.0984	False		,,,				2504	0.044				p.Q551Q		.											.	EPN3-91	0			c.G1653A						.	G		99,4275		4,91,2092	13	17	16		1653	4.2	1	17	dbSNP_132	16	864,7700		36,792,3454	no	coding-synonymous	EPN3	NM_017957.2		40,883,5546	AA,AG,GG		10.0887,2.2634,7.4432		551/633	48619272	963,11975	2187	4282	6469	SO:0001819	synonymous_variant	55040	exon10			AAACCAGATGCGC	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1653G>A	17.37:g.48619272G>A		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																			G|0.933;A|0.067		0.726	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48619272	G	A	48619272	2	1	30	1	0	0	0	0	0	0	0	1	5203	933	33	3		3	EPN3	17	48619272	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	5245	48619272	32575938	214	5489											
EPN3	55040	hgsc.bcm.edu	37	chr17	48619290	48619290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcgcaccggctcgccGgcgctgggcctggcaggcgg	18	15	0	1	rs112657244	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:48619290G>A	ENST00000268933.3	+	10	2250	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EPN3_ENST00000537145.1_Silent_p.P585P|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	557	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCGGCTCGCCGGCGCTGGGCC	0.726													G|||	195	0.0389377	0.0038	0.0418	5008	,	,		9711	0.0188		0.0984	False		,,,				2504	0.044				p.P557P		.											.	EPN3-91	0			c.G1671A						.	G		91,4245		4,83,2081	9	12	11		1671	-9.4	0	17	dbSNP_132	11	770,7712		27,716,3498	no	coding-synonymous	EPN3	NM_017957.2		31,799,5579	AA,AG,GG		9.078,2.0987,6.7171		557/633	48619290	861,11957	2168	4241	6409	SO:0001819	synonymous_variant	55040	exon10			CTCGCCGGCGCTG	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1671G>A	17.37:g.48619290G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																			G|0.946;A|0.054		0.726	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48619290	G	A	48619290	2	1	30	1	0	0	0	0	0	0	0	1	5203	1103	39	1		1	EPN3	17	48619290	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	18	48619290	32575920	215	5490											
C17orf70	80233	broad.mit.edu;bcgsc.ca	37	chr17	79517591	79517591	+	Frame_Shift_Del	DEL	T	T	-													gaccaaaggccaccaggcagTcacagtgcacatcctcgtca							TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr17:79517591delT	ENST00000327787.8	-	3	975	c.929delA	c.(928-930)gacfs	p.D310fs	C17orf70_ENST00000537152.1_Frame_Shift_Del_p.D159fs|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	310					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)			CACCAGGCAGTCACAGTGCAC	0.612																																					p.D310fs		.											.	C17orf70-92	0			c.929delA						.						47	49	48					17																	79517591		2202	4300	6502	SO:0001589	frameshift_variant	80233	exon3			AGGCAGTCACAGT	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.929delA	17.37:g.79517591delT	ENSP00000333283:p.Asp310fs	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	74	9	NM_025161	0	0	0	0	0	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	37	CCDS32765.2																																																																																			.		0.612	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		-	79517591	T	-	79517591	7	5	30	1	0	1	0	1	0	0	0	0	1883	1667	58	0	1744	0	C17orf70	17	79517591	Frame_Shift_Del	DEL	T	TCGA-OR-A5K9-01A-11D-A29I-10	30898301	79517591	1677619	216	5491											
COLEC12	81035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	346782	346782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatcctccagggtgtcGttgttggctttggccaacgc	11	11	1	0	rs370741108		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr18:346782G>A	ENST00000400256.3	-	5	1047	c.840C>T	c.(838-840)aaC>aaT	p.N280N		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	280					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCAGGGTGTCGTTGTTGGCTT	0.507																																					p.N280N		.											.	COLEC12-92	0			c.C840T						.	G		1,4405	2.1+/-5.4	0,1,2202	154	127	136		840	-11.6	0.3	18		136	0,8600		0,0,4300	no	coding-synonymous	COLEC12	NM_130386.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		280/743	346782	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81035	exon5			GGTGTCGTTGTTG	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.840C>T	18.37:g.346782G>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	65	20	NM_130386	0	0	0	0	0	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																			.		0.507	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			A	346782	G	A	346782	2	1	30	1	0	0	0	0	0	0	0	1	3719	1136	40	1		1	COLEC12	18	346782	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		346782	77730466	217	5492											
SMAD7	4092	hgsc.bcm.edu	37	chr18	46476680	46476680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccgtcgccccttctcCccgcagctcgcctcctcctc	7	23	1	0	rs144204026	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr18:46476680C>T	ENST00000262158.2	-	1	401	c.115G>A	c.(115-117)Gga>Aga	p.G39R	SMAD7_ENST00000589634.1_Missense_Mutation_p.G39R|SMAD7_ENST00000591805.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	39					adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					gccccttctccccgcagctcg	0.746													C|||	11	0.00219649	0	0.0014	5008	,	,		8320	0		0.008	False		,,,				2504	0.002				p.G39R		.											.	SMAD7-414	0			c.G115A						.	C	ARG/GLY,ARG/GLY	2,3636		0,2,1817	3	3	3		115,115	3.5	1	18	dbSNP_134	3	34,7232		0,34,3599	no	missense,missense	SMAD7	NM_001190821.1,NM_005904.3	125,125	0,36,5416	TT,TC,CC		0.4679,0.055,0.3302	probably-damaging,probably-damaging	39/426,39/427	46476680	36,10868	1819	3633	5452	SO:0001583	missense	4092	exon1			CTTCTCCCCGCAG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.115G>A	18.37:g.46476680C>T	ENSP00000262158:p.Gly39Arg	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	75	50	NM_005904	0	0	2	5	3	B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	CCDS11936.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	C	2.594	-0.294537	0.05568	5.5E-4	0.004679	ENSG00000101665	ENST00000262158	T	0.74947	-0.89	3.5	3.5	0.40072	MAD homology, MH1 (1);	0.199276	0.25004	N	0.033892	T	0.49915	0.1585	N	0.19112	0.55	0.46849	D	0.999221	P	0.41041	0.736	B	0.36289	0.221	T	0.60372	-0.7276	10	0.39692	T	0.17	.	14.0774	0.64897	0.0:1.0:0.0:0.0	.	39	O15105	SMAD7_HUMAN	R	39	ENSP00000262158:G39R	ENSP00000262158:G39R	G	-	1	0	SMAD7	44730678	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	2.857000	0.48349	1.959000	0.56917	0.555000	0.69702	GGA	C|0.996;T|0.004		0.746	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		T	46476680	C	T	46476680	3	4	30	1	0	0	0	0	1	0	0	0	14808	632	22	3	1181	3	SMAD7	18	46476680	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	46129898	46476680	31600568	218	5493											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929678	929678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgaggacagagagcccgaGagtgcccggatgcagcgggc	18	11	0	2	rs3826948	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3	4	3		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005224	0	0	0	2	2	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	929678	G	A	929678	2	1	30	1	0	0	0	0	0	0	0	1	916	933	33	3		3	ARID3A	19	929678	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		929678	58199305	219	5494											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	1046951	1046951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctcagccgcgcggtgctCtggctaggctggttcctcag	16	13	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:1046951C>T	ENST00000263094.6	+	14	2004	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Silent_p.L591L|ABCA7_ENST00000435683.2_Silent_p.L453L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	591					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)		GCGCGGTGCTCTGGCTAGGCT	0.697																																					p.L591L		.											.	ABCA7-98	0			c.C1773T						.						18	18	18					19																	1046951		2178	4277	6455	SO:0001819	synonymous_variant	10347	exon14			GGTGCTCTGGCTA	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.1773C>T	19.37:g.1046951C>T		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	634	89	NM_019112	0	0	3	6	3	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			.		0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1046951	C	T	1046951	2	4	30	1	0	0	0	0	0	0	0	1	37	900	32	3		3	ABCA7	19	1046951	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	117273	1046951	58082032	220	5495											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc	14	16	0	2	rs8140	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000453954.2_Silent_p.S350S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_003200	0	0	38	77	39	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	30	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	572388	1619339	57509644	221	5496											
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4217956	4217956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcggggccgggcAgccagtctggagcaggaggt	20	10	1	0	rs6510794	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000262970.5_Silent_p.A1023A|ANKRD24_ENST00000318934.4_Silent_p.A933A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3	6	5		2799	0.3	1	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_133475	0	0	0	0	0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4217956	A	G	4217956	2	3	30	1	0	0	0	0	0	0	0	1	653	175	7	4		4	ANKRD24	19	4217956	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	2598617	4217956	54911027	222	5497											
RFX2	5990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6047473	6047473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacgcagagccacggacGctggcgaatccgctccaccc	13	16	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:6047473G>A	ENST00000303657.5	-	2	184	c.35C>T	c.(34-36)gCg>gTg	p.A12V	RFX2_ENST00000592546.1_Missense_Mutation_p.A12V|RFX2_ENST00000359161.3_Missense_Mutation_p.A12V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCACGGACGCTGGCGAATC	0.637											OREG0025192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A12V	Colon(38;171 817 19800 47433 48051)	.											.	RFX2-156	0			c.C35T						.						21	20	21					19																	6047473		2193	4300	6493	SO:0001583	missense	5990	exon2			ACGGACGCTGGCG		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.35C>T	19.37:g.6047473G>A	ENSP00000306335:p.Ala12Val	Somatic	18	0	631	WXS	Illumina GAIIx	Phase_I	217	65	NM_134433	0	0	1	1	0	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348289	0.61183	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	T;T	0.34275	1.37;1.37	4.81	4.81	0.61882	RFX1 transcription activation region (1);	0.235291	0.41500	D	0.000867	T	0.33118	0.0852	L	0.47716	1.5	0.25463	N	0.987892	P;P	0.36874	0.516;0.572	B;B	0.32677	0.093;0.15	T	0.36696	-0.9737	10	0.62326	D	0.03	-10.7721	16.4655	0.84077	0.0:0.0:1.0:0.0	.	12;12	P48378-2;P48378	.;RFX2_HUMAN	V	12	ENSP00000306335:A12V;ENSP00000352076:A12V	ENSP00000306335:A12V	A	-	2	0	RFX2	5998473	0.987000	0.35691	0.072000	0.20136	0.852000	0.48524	6.825000	0.75293	2.180000	0.69256	0.591000	0.81541	GCG	.		0.637	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		A	6047473	G	A	6047473	3	1	30	1	0	0	0	0	1	0	0	0	13308	1087	38	1	2204	1	RFX2	19	6047473	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1829517	6047473	53081510	223	5498											
RPS28	6234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8386554	8386554	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcaccaaggtcctGggcaggaccggttctcaggg	14	13	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:8386554G>C	ENST00000600659.2	+	2	85	c.54G>C	c.(52-54)ctG>ctC	p.L18L	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	18					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)										CCAAGGTCCTGGGCAGGACCG	0.637																																					p.L18L		.											.	RPS28-46	0			c.G54C						.						12	14	13					19																	8386554		1887	4095	5982	SO:0001819	synonymous_variant	6234	exon2			GGTCCTGGGCAGG	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.54G>C	19.37:g.8386554G>C		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	80	33	NM_001031	1	0	1388	2034	645	P25112	Silent	SNP	ENST00000600659.2	37	CCDS45953.1																																																																																			.		0.637	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		C	8386554	G	C	8386554	2	2	30	1	0	0	0	0	0	0	0	1	13686	1335	47	3		3	RPS28	19	8386554	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	2339081	8386554	50742429	224	5499											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399628	8399628	+	Silent	SNP	A	A	G													accccgcgctggtgctccagActggcgcgcagcagctctag					rs710949	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:8399628A>G	ENST00000593649.1	-	3	1148	c.1083T>C	c.(1081-1083)agT>agC	p.S361S	KANK3_ENST00000330915.3_Silent_p.S361S			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	361										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGTGCTCCAGACTGGCGCGCA	0.766													G|||	3017	0.602436	0.7443	0.6153	5008	,	,		10732	0.4147		0.5984	False		,,,				2504	0.5992				p.S361S		.											.	KANK3-90	0			c.T1083C						.	G		1917,541		783,351,95	1	1	1		1083	3.4	1	19	dbSNP_86	1	3649,1585		1364,921,332	no	coding-synonymous	KANK3	NM_198471.2		2147,1272,427	GG,GA,AA		30.2828,22.0098,27.6391		361/822	8399628	5566,2126	1229	2617	3846	SO:0001819	synonymous_variant	256949	exon3			CTCCAGACTGGCG	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1083T>C	19.37:g.8399628A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				A|0.411;G|0.589		0.766	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		G	8399628	A	G	8399628	2	3	30	1	0	0	0	0	0	0	0	1	8005	272	10	4		4	KANK3	19	8399628	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	13074	8399628	50729355	225	5500	41	2									
KANK3	256949	hgsc.bcm.edu	37	chr19	8399635	8399635	+	Missense_Mutation	SNP	C	C	T													gctggtgctccagactggcgCgcagcagctctagctcgcgc					rs890853	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:8399635C>T	ENST00000593649.1	-	3	1141	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	KANK3_ENST00000330915.3_Missense_Mutation_p.R359H			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	359			R -> H (in dbSNP:rs890853).							breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGACTGGCGCGCAGCAGCTC	0.761													C|||	962	0.192093	0.093	0.3847	5008	,	,		10548	0.2113		0.2545	False		,,,				2504	0.1053				p.R359H		.											.	KANK3-90	0			c.G1076A						.						1	1	1					19																	8399635		1163	2476	3639	SO:0001583	missense	256949	exon3			CTGGCGCGCAGCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1076G>A	19.37:g.8399635C>T	ENSP00000470728:p.Arg359His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37		505	0.23122710622710624	63	0.12804878048780488	131	0.36187845303867405	117	0.20454545454545456	194	0.2559366754617414	C	13.09	2.134512	0.37630	.	.	ENSG00000186994	ENST00000330915	T	0.54071	0.59	4.52	0.959	0.19624	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.53688	P	2.8999999999945736E-5	B	0.16396	0.017	B	0.09377	0.004	T	0.33394	-0.9870	8	0.54805	T	0.06	-23.4019	6.9118	0.24338	0.0:0.5682:0.0:0.4318	rs890853	359	Q6NY19-2	.	H	359	ENSP00000328923:R359H	ENSP00000328923:R359H	R	-	2	0	KANK3	8305635	0.014000	0.17966	0.688000	0.30117	0.060000	0.15804	0.173000	0.16724	0.468000	0.27243	0.297000	0.19635	CGC	C|0.769;T|0.231		0.761	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		T	8399635	C	T	8399635	3	4	30	1	0	0	0	0	1	0	0	0	8005	768	27	1	1425	1	KANK3	19	8399635	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7	8399635	50729348	226	5501	41	2									
ZNF846	162993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9869036	9869036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgtcctataaggtgTgaggaattactgaaggcttt	10	7	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:9869036T>C	ENST00000397902.2	-	6	1130	c.717A>G	c.(715-717)tcA>tcG	p.S239S	ZNF846_ENST00000588267.1_Silent_p.S110S|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Silent_p.S110S	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CTATAAGGTGTGAGGAATTAC	0.378																																					p.S239S		.											.	ZNF846-23	0			c.A717G						.						101	108	106					19																	9869036		2116	4255	6371	SO:0001819	synonymous_variant	162993	exon6			AAGGTGTGAGGAA	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.717A>G	19.37:g.9869036T>C		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	90	28	NM_001077624	0	0	0	0	0	A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	CCDS42496.1																																																																																			.		0.378	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9869036	T	C	9869036	2	2	30	1	0	0	0	0	0	0	0	1	18240	1683	59	4		4	ZNF846	19	9869036	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1469401	9869036	49259947	227	5502											
ZNF653	115950	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	11594864	11594864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcactcactgcagggGggtctcgccggtgtgggtgc	17	12	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:11594864G>A	ENST00000293771.5	-	8	1799	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	555					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						CACTGCAGGGGGGTCTCGCCG	0.667																																					p.P555S	Pancreas(83;980 1446 4542 6441 43352)	.											.	ZNF653-90	0			c.C1663T						.						33	28	30					19																	11594864		2174	4274	6448	SO:0001583	missense	115950	exon8			GCAGGGGGGTCTC	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.1663C>T	19.37:g.11594864G>A	ENSP00000293771:p.Pro555Ser	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	269	115	NM_138783	0	0	0	0	0	Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269181	0.80469	.	.	ENSG00000161914	ENST00000293771	T	0.16743	2.32	4.76	4.76	0.60689	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50432	-0.8829	10	0.66056	D	0.02	-18.7482	16.9079	0.86133	0.0:0.0:1.0:0.0	.	555	Q96CK0	ZN653_HUMAN	S	555	ENSP00000293771:P555S	ENSP00000293771:P555S	P	-	1	0	ZNF653	11455864	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	9.393000	0.97256	2.374000	0.81015	0.305000	0.20034	CCC	.		0.667	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		A	11594864	G	A	11594864	3	1	30	1	0	0	0	0	1	0	0	0	18114	1232	43	3	192	3	ZNF653	19	11594864	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1725828	11594864	47534119	228	5503											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	30	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	3539062	15133926	43995057	229	5504											
AKAP8L	26993	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	15508345	15508345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccctgggtcagatccTggtctctgtagatttggtgg	12	11	3	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:15508345T>G	ENST00000397410.5	-	11	1521	c.1391A>C	c.(1390-1392)cAg>cCg	p.Q464P	AKAP8L_ENST00000595465.2_Missense_Mutation_p.Q403P|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	464						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGTCAGATCCTGGTCTCTGTA	0.547																																					p.Q464P		.											.	AKAP8L-1	0			c.A1391C						.						124	120	121					19																	15508345		1981	4163	6144	SO:0001583	missense	26993	exon11			AGATCCTGGTCTC	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1391A>C	19.37:g.15508345T>G	ENSP00000380557:p.Gln464Pro	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	580	45	NM_014371	0	0	3	4	1	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	t	6.446	0.450446	0.12223	.	.	ENSG00000011243	ENST00000397410	T	0.44482	0.92	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.31207	0.915	0.36671	D	0.878518	D;D	0.71674	0.998;0.998	D;D	0.74023	0.982;0.982	T	0.50197	-0.8856	10	0.19147	T	0.46	-13.9687	13.1575	0.59527	0.0:0.0:0.0:1.0	.	403;464	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	P	464	ENSP00000380557:Q464P	ENSP00000380557:Q464P	Q	-	2	0	AKAP8L	15369345	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	5.080000	0.64437	1.994000	0.58287	0.454000	0.30748	CAG	.		0.547	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		G	15508345	T	G	15508345	3	3	30	1	0	0	0	0	1	0	0	0	458	1580	55	5	565	5	AKAP8L	19	15508345	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	374419	15508345	43620638	230	5505											
OR10H5	284433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	15905273	15905273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgtgctcatgagcctgCggggctgcacctgccgggtg	15	13	1	1	rs145808850	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:15905273C>T	ENST00000308940.8	+	1	513	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGAGCCTGCGGGGCTGCAC	0.632																																					p.R139W		.											.	OR10H5-69	1	Substitution - Missense(1)	central_nervous_system(1)	c.C415T						.						98	84	89					19																	15905273		2203	4300	6503	SO:0001583	missense	284433	exon1			AGCCTGCGGGGCT	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.415C>T	19.37:g.15905273C>T	ENSP00000310704:p.Arg139Trp	Somatic	342	0		WXS	Illumina GAIIx	Phase_I	1865	215	NM_001004466	0	0	0	0	0	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194355	0.22037	.	.	ENSG00000172519	ENST00000308940	T	0.42900	0.96	3.25	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.150239	0.31312	N	0.007869	T	0.46852	0.1414	M	0.65498	2.005	0.09310	N	1	D	0.63046	0.992	P	0.52386	0.697	T	0.34825	-0.9813	10	0.59425	D	0.04	.	6.4261	0.21770	0.0:0.8588:0.0:0.1412	.	139	Q8NGA6	O10H5_HUMAN	W	139	ENSP00000310704:R139W	ENSP00000310704:R139W	R	+	1	2	OR10H5	15766273	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.657000	0.00853	0.686000	0.31488	0.585000	0.79938	CGG	A|0.001;C|0.999;T|0.000		0.632	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15905273	C	T	15905273	3	4	30	1	0	0	0	0	1	0	0	0	10948	759	27	1	417	1	OR10H5	19	15905273	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	396928	15905273	43223710	231	5506											
UPF1	5976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	18943028	18943028	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccggaggcaccatgagcgtgGaggcgtacgggcccagctcg	17	13	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:18943028G>C	ENST00000599848.1	+	1	219	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	UPF1_ENST00000262803.5_Missense_Mutation_p.E4Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	4	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGAGCGTGGAGGCGTACGG	0.711																																					p.E4Q		.											.	UPF1-91	0			c.G10C						.						34	36	35					19																	18943028		2203	4300	6503	SO:0001583	missense	5976	exon1			AGCGTGGAGGCGT	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.10G>C	19.37:g.18943028G>C	ENSP00000470142:p.Glu4Gln	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	181	113	NM_002911	0	0	1	3	2	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	14.22	2.469546	0.43839	.	.	ENSG00000005007	ENST00000262803	D	0.90004	-2.6	3.92	2.86	0.33363	.	0.177957	0.47852	U	0.000207	D	0.83482	0.5264	L	0.36672	1.1	0.51767	D	0.999932	B;B	0.21071	0.03;0.051	B;B	0.22753	0.012;0.041	T	0.78738	-0.2087	10	0.59425	D	0.04	-15.4583	12.5255	0.56083	0.0:0.1694:0.8306:0.0	.	4;4	Q92900;Q92900-2	RENT1_HUMAN;.	Q	4	ENSP00000262803:E4Q	ENSP00000262803:E4Q	E	+	1	0	UPF1	18804028	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	7.249000	0.78278	0.634000	0.30469	0.499000	0.49734	GAG	.		0.711	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		C	18943028	G	C	18943028	3	2	30	1	0	0	0	0	1	0	0	0	17052	1175	41	3	12	3	UPF1	19	18943028	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	3037755	18943028	40185955	232	5507											
YJEFN3	374887	broad.mit.edu	37	chr19	19648155	19648155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagagaccggcagcgattCggaggacgggctgcggcctg	18	12	0	1	rs200289592	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:19648155C>T	ENST00000514277.4	+	7	760	c.722C>T	c.(721-723)tCg>tTg	p.S241L	CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000436027.5_Missense_Mutation_p.S191L|CILP2_ENST00000586018.1_5'Flank	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	241	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GGCAGCGATTCGGAGGACGGG	0.706													C|||	6	0.00119808	8e-04	0	5008	,	,		10383	0		0.003	False		,,,				2504	0.002				p.S241L		.											.	YJEFN3-90	0			c.C722T						.	C	LEU/SER,LEU/SER	0,3520		0,0,1760	7	8	8		572,722	1.3	0	19		8	8,7574		0,8,3783	no	missense,missense	YJEFN3	NM_001190328.1,NM_198537.3	145,145	0,8,5543	TT,TC,CC		0.1055,0.0,0.0721	benign,benign	191/250,241/300	19648155	8,11094	1760	3791	5551	SO:0001583	missense	374887	exon7			GCGATTCGGAGGA		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.722C>T	19.37:g.19648155C>T	ENSP00000426964:p.Ser241Leu	Somatic	17	1		WXS	Illumina GAIIx	Phase_I	84	46	NM_198537	0	0	2	4	2	A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	4.336	0.061723	0.08339	0.0	0.001055	ENSG00000250067	ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139	T;T	0.42131	0.98;0.98	2.36	1.29	0.21616	YjeF-related protein, N-terminal (5);	0.886510	0.09510	U	0.792464	T	0.23451	0.0567	N	0.12182	0.205	0.09310	N	0.999994	B;P	0.37663	0.049;0.604	B;B	0.35655	0.019;0.207	T	0.13980	-1.0489	10	0.48119	T	0.1	-21.0135	7.0319	0.24972	0.0:0.7158:0.2842:0.0	.	191;241	A6XGL0-2;A6XGL0	.;YJEN3_HUMAN	L	241;191;241;191	ENSP00000398520:S191L;ENSP00000426964:S241L	ENSP00000380364:S241L	S	+	2	0	YJEFN3	19509155	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-0.150000	0.10189	0.568000	0.29311	0.306000	0.20318	TCG	.		0.706	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		T	19648155	C	T	19648155	3	4	30	1	0	0	0	0	1	0	0	0	17533	893	31	1	748	1	YJEFN3	19	19648155	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	705127	19648155	39480828	233	5508											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	30	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	13519300	33167455	25961528	234	5509											
ZNF607	84775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38189550	38189550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaactctgcgatgTatagtgagtttatggctata	10	6	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:38189550T>C	ENST00000355202.4	-	5	2077	c.1482A>G	c.(1480-1482)atA>atG	p.I494M	ZNF607_ENST00000395835.3_Missense_Mutation_p.I493M|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CTCTGCGATGTATAGTGAGTT	0.393																																					p.I494M		.											.	ZNF607-90	0			c.A1482G						.						103	100	101					19																	38189550		2203	4300	6503	SO:0001583	missense	84775	exon5			GCGATGTATAGTG	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1482A>G	19.37:g.38189550T>C	ENSP00000347338:p.Ile494Met	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	133	35	NM_032689	0	0	0	0	0	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	6.009	0.370002	0.11352	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07567	3.18;3.18	2.38	-4.32	0.03688	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.14023	0.001;0.01	T	0.41963	-0.9479	9	0.29301	T	0.29	.	0.8617	0.01194	0.1528:0.2136:0.3109:0.3228	.	494;493	Q96SK3;F5H141	ZN607_HUMAN;.	M	494;493	ENSP00000347338:I494M;ENSP00000438015:I493M	ENSP00000347338:I494M	I	-	3	3	ZNF607	42881390	0.000000	0.05858	0.001000	0.08648	0.972000	0.66771	-5.431000	0.00123	-1.470000	0.01888	-0.411000	0.06167	ATA	.		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		C	38189550	T	C	38189550	3	2	30	1	0	0	0	0	1	0	0	0	18081	1628	57	4	612	4	ZNF607	19	38189550	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	5022095	38189550	20939433	235	5510											
CAPN12	147968	hgsc.bcm.edu	37	chr19	39226927	39226927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggggcaggagcgcaTggctgcgcggggaatcccag	19	12	0	0	rs62120074	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:39226927T>C	ENST00000328867.4	-	12	1714	c.1406A>G	c.(1405-1407)cAt>cGt	p.H469R	CAPN12_ENST00000601953.1_Missense_Mutation_p.H320R|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	469	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGCGCATGGCTGCGCGG	0.761													t|||	345	0.0688898	0.0567	0.0807	5008	,	,		4289	0.0466		0.0616	False		,,,				2504	0.1074				p.H469R		.											.	CAPN12-91	0			c.A1406G						.		ARG/HIS	65,2227		0,65,1081	2	2	2		1406	2.5	1	19	dbSNP_129	2	160,4530		3,154,2188	no	missense	CAPN12	NM_144691.3	29	3,219,3269	CC,CT,TT		3.4115,2.836,3.2226	benign	469/720	39226927	225,6757	1146	2345	3491	SO:0001583	missense	147968	exon12			AGCGCATGGCTGC	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.1406A>G	19.37:g.39226927T>C	ENSP00000331636:p.His469Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_144691	0	0	0	1	1		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	134	0.06135531135531135	27	0.054878048780487805	25	0.06906077348066299	34	0.05944055944055944	48	0.0633245382585752	t	1.176	-0.639525	0.03557	0.02836	0.034115	ENSG00000182472	ENST00000328867	D	0.86627	-2.15	3.59	2.52	0.30459	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	1.218970	0.05528	N	0.563364	T	0.07413	0.0187	N	0.00073	-2.26	0.20196	N	0.99993	B	0.02656	0.0	B	0.01281	0.0	T	0.52704	-0.8540	10	0.02654	T	1	.	4.7548	0.13078	0.2094:0.6726:0.0:0.118	rs62120074	469	Q6ZSI9	CAN12_HUMAN	R	469	ENSP00000331636:H469R	ENSP00000331636:H469R	H	-	2	0	CAPN12	43918767	0.787000	0.28750	0.978000	0.43139	0.521000	0.34408	1.108000	0.31123	0.313000	0.23062	-0.365000	0.07479	CAT	T|0.939;C|0.061		0.761	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			C	39226927	T	C	39226927	3	2	30	1	0	0	0	0	1	0	0	0	2632	1464	51	4	793	4	CAPN12	19	39226927	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1037377	39226927	19902056	236	5511											
APOE	348	hgsc.bcm.edu	37	chr19	45412079	45412079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatgacctgcagaagCgcctggcagtgtaccaggcc	13	13	0	2	rs7412	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:45412079C>T	ENST00000252486.4	+	4	637	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	176	8 X 22 AA approximate tandem repeats.		R -> C (in HLPP3; forms E1 Weisgraber, form E2 and form E3**; dbSNP:rs7412). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTGCAGAAGCGCCTGGCAGT	0.746													c|||	376	0.0750799	0.1029	0.0476	5008	,	,		8311	0.1002		0.0626	False		,,,				2504	0.044				p.R176C		.											.	APOE-90	0			c.C526T	GRCh37	CM860003	APOE	M	rs7412	.	C	CYS/ARG	271,2853		8,255,1299	3	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	526	4.1	1	19	dbSNP_52	3	356,5976		6,344,2816	yes	missense	APOE	NM_000041.2	180	14,599,4115	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	5.6222,8.6748,6.6307	probably-damaging	176/318	45412079	627,8829	1562	3166	4728	SO:0001583	missense	348	exon4			CAGAAGCGCCTGG	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.526C>T	19.37:g.45412079C>T	ENSP00000252486:p.Arg176Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_000041	1	1	798	3294	2494	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	162	0.07417582417582418	46	0.09349593495934959	23	0.06353591160220995	43	0.07517482517482517	50	0.06596306068601583	C	15.82	2.945479	0.53079	0.086748	0.056222	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.74947	-0.89;-0.89;-0.89	5.09	4.05	0.47172	Apolipoprotein/apolipophorin (1);	0.000000	0.50627	D	0.000104	T	0.20414	0.0491	M	0.81682	2.555	0.37880	D	0.930361	D	0.89917	1.0	D	0.97110	1.0	T	0.65998	-0.6032	10	0.66056	D	0.02	-7.7588	6.5628	0.22495	0.1808:0.7277:0.0:0.0915	rs7412;rs3200542	176	P02649	APOE_HUMAN	C	176;176;221;176	ENSP00000252486:R176C;ENSP00000413135:R176C;ENSP00000410423:R176C	ENSP00000252486:R176C	R	+	1	0	APOE	50103919	0.986000	0.35501	1.000000	0.80357	0.351000	0.29236	0.344000	0.19962	1.134000	0.42165	0.555000	0.69702	CGC	C|0.933;T|0.067		0.746	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		T	45412079	C	T	45412079	3	4	30	1	0	0	0	0	1	0	0	0	802	768	27	1	536	1	APOE	19	45412079	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	6185152	45412079	13716904	237	5512											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000221481.6_3'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	18	NM_000400	0	0	0	24	24	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	30	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	455180	45867259	13261724	238	5513											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	6	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	30	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1260065	47127324	12001659	239	5514											
SAE1	10055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47673134	47673134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggagcagtgagaaagcAaaggctgctctgaagcgcac	14	9	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:47673134A>G	ENST00000270225.7	+	6	755	c.687A>G	c.(685-687)gcA>gcG	p.A229A	SAE1_ENST00000540850.1_Silent_p.A55A|SAE1_ENST00000413379.3_Silent_p.A229A|SAE1_ENST00000598840.1_Silent_p.A148A|SAE1_ENST00000392776.3_Silent_p.A229A	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	229					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)		GTGAGAAAGCAAAGGCTGCTC	0.502																																					p.A229A		.											.	SAE1-227	0			c.A687G						.						147	135	139					19																	47673134		2203	4300	6503	SO:0001819	synonymous_variant	10055	exon6			GAAAGCAAAGGCT	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.687A>G	19.37:g.47673134A>G		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	164	37	NM_001145714	0	0	107	153	46	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	ENST00000270225.7	37	CCDS12696.1																																																																																			.		0.502	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		G	47673134	A	G	47673134	2	3	30	1	0	0	0	0	0	0	0	1	13850	117	5	4		4	SAE1	19	47673134	Silent	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	545810	47673134	11455849	240	5515											
SLC8A2	6543	hgsc.bcm.edu	37	chr19	47951116	47951116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacgcgtcctcgtagtgCacgccgccgccgcgcgccgt	13	20	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:47951116C>T	ENST00000236877.6	-	4	2108	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	SLC8A2_ENST00000542837.1_Silent_p.V327V|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000539381.1_Silent_p.V34V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	571	Calx-beta 2.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCGTAGTGCACGCCGCCGC	0.751																																					p.V571V		.											.	SLC8A2-94	0			c.G1713A						.						6	6	6					19																	47951116		2037	3963	6000	SO:0001819	synonymous_variant	6543	exon4			GTAGTGCACGCCG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1713G>A	19.37:g.47951116C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	44	18	NM_015063	0	0	0	0	0	B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																			.		0.751	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47951116	C	T	47951116	2	4	30	1	0	0	0	0	0	0	0	1	14752	697	25	3		3	SLC8A2	19	47951116	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	277982	47951116	11177867	241	5516											
LRRC4B	94030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51022585	51022585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcagcccgttgaaggCgcccacctcgatcttgcgca	13	15	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:51022585C>T	ENST00000599957.1	-	3	582	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A129T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	129					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCGTTGAAGGCGCCCACCTCG	0.627																																					p.A129T		.											.	LRRC4B-205	0			c.G385A						.						41	45	43					19																	51022585		2178	4290	6468	SO:0001583	missense	94030	exon3			TGAAGGCGCCCAC	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.385G>A	19.37:g.51022585C>T	ENSP00000471502:p.Ala129Thr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	224	58	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388117	0.82902	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.93426	-3.22	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000010	D	0.94248	0.8153	L	0.37800	1.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.94518	0.7724	10	0.62326	D	0.03	.	13.9104	0.63864	0.0:1.0:0.0:0.0	.	129	Q9NT99	LRC4B_HUMAN	T	129	ENSP00000373853:A129T	ENSP00000373853:A129T	A	-	1	0	LRRC4B	55714397	1.000000	0.71417	0.978000	0.43139	0.945000	0.59286	7.645000	0.83430	2.235000	0.73313	0.491000	0.48974	GCC	.		0.627	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		T	51022585	C	T	51022585	3	4	30	1	0	0	0	0	1	0	0	0	9042	768	27	1	1760	1	LRRC4B	19	51022585	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	3071469	51022585	8106398	242	5517											
TMEM86B	255043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55739581	55739581	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggacgaaggctgccggccaGatgaggcaagcgtcccccac	15	14	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:55739581G>C	ENST00000327042.4	-	2	798	c.276C>G	c.(274-276)atC>atG	p.I92M	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	92					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CTGCCGGCCAGATGAGGCAAG	0.657																																					p.I92M		.											.	TMEM86B-90	0			c.C276G						.						27	28	27					19																	55739581		2202	4300	6502	SO:0001583	missense	255043	exon2			CGGCCAGATGAGG	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.276C>G	19.37:g.55739581G>C	ENSP00000321038:p.Ile92Met	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	196	49	NM_173804	0	0	13	16	3		Missense_Mutation	SNP	ENST00000327042.4	37	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568851	0.28003	.	.	ENSG00000180089	ENST00000327042	T	0.21361	2.01	5.4	1.94	0.25998	.	0.429481	0.23764	N	0.044791	T	0.23846	0.0577	L	0.28504	0.86	0.43959	D	0.996634	D	0.69078	0.997	D	0.70487	0.969	T	0.19095	-1.0316	10	0.13108	T	0.6	.	5.59	0.17295	0.0738:0.2587:0.5342:0.1332	.	92	Q8N661	TM86B_HUMAN	M	92	ENSP00000321038:I92M	ENSP00000321038:I92M	I	-	3	3	TMEM86B	60431393	1.000000	0.71417	0.981000	0.43875	0.262000	0.26303	1.592000	0.36676	0.311000	0.23014	0.655000	0.94253	ATC	.		0.657	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		C	55739581	G	C	55739581	3	2	30	1	0	0	0	0	1	0	0	0	16256	932	33	3	412	3	TMEM86B	19	55739581	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	4716996	55739581	3389402	243	5518											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	30	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	253679	55993260	3135723	244	5519											
ZFP28	140612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	57065768	57065768	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaaatgtgatgtatgTcacaaatccttcaggtatgg	8	8	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr19:57065768T>C	ENST00000301318.3	+	8	1685	c.1614T>C	c.(1612-1614)tgT>tgC	p.C538C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTGATGTATGTCACAAATCCT	0.413																																					p.C538C	Ovarian(124;554 1662 19430 21141 52494)	.											.	ZFP28-91	0			c.T1614C						.						60	56	57					19																	57065768		2203	4300	6503	SO:0001819	synonymous_variant	140612	exon8			TGTATGTCACAAA		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1614T>C	19.37:g.57065768T>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	56	8	NM_020828	0	0	8	8	0	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	CCDS12946.1																																																																																			.		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		C	57065768	T	C	57065768	2	2	30	1	0	0	0	0	0	0	0	1	17690	1673	58	4		4	ZFP28	19	57065768	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	1072508	57065768	2063215	245	5520											
ITCH	83737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	33080396	33080396	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagtaggaggatttgctgatCtcatgggtatgtatacagga	13	5	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr20:33080396C>G	ENST00000262650.6	+	24	2669	c.2533C>G	c.(2533-2535)Ctc>Gtc	p.L845V	ITCH_ENST00000535650.1_Missense_Mutation_p.L694V|ITCH_ENST00000374864.4_Missense_Mutation_p.L804V			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	845	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTGCTGATCTCATGGGTAT	0.358																																					p.L845V		.											.	ITCH-659	0			c.C2533G						.						118	115	116					20																	33080396		2203	4300	6503	SO:0001583	missense	83737	exon24			GCTGATCTCATGG	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2533C>G	20.37:g.33080396C>G	ENSP00000262650:p.Leu845Val	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	100	34	NM_001257137	0	0	0	0	0	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199701	0.79015	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.65916	-0.18;-0.18;-0.18	5.35	4.41	0.53225	HECT (4);	0.124779	0.53938	D	0.000057	D	0.82834	0.5123	M	0.92649	3.33	0.80722	D	1	D;P;D	0.76494	0.962;0.914;0.999	D;P;D	0.80764	0.963;0.796;0.994	D	0.87261	0.2279	10	0.87932	D	0	.	13.9161	0.63899	0.0:0.9264:0.0:0.0736	.	756;845;804	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	V	804;694;845	ENSP00000363998:L804V;ENSP00000445608:L694V;ENSP00000262650:L845V	ENSP00000262650:L845V	L	+	1	0	ITCH	32544057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.227000	0.58612	1.490000	0.48466	0.650000	0.86243	CTC	.		0.358	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			G	33080396	C	G	33080396	3	3	30	1	0	0	0	0	1	0	0	0	7895	913	32	3	2492	3	ITCH	20	33080396	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		33080396	29945124	246	5521											
PTPRT	11122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	40713387	40713387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccacttctccagtcgtcgGaccactttgagcagagagcg	11	13	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr20:40713387G>A	ENST00000373187.1	-	29	4070	c.4071C>T	c.(4069-4071)gtC>gtT	p.V1357V	PTPRT_ENST00000373198.4_Silent_p.V1376V|PTPRT_ENST00000373193.3_Silent_p.V1360V|PTPRT_ENST00000373201.1_Silent_p.V1347V|PTPRT_ENST00000373190.1_Silent_p.V1356V|PTPRT_ENST00000373184.1_Silent_p.V1367V|PTPRT_ENST00000356100.2_Silent_p.V1366V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1357	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGTCGTCGGACCACTTTGA	0.597																																					p.V1376V		.											.	PTPRT-664	0			c.C4128T						.						54	61	58					20																	40713387		2035	4171	6206	SO:0001819	synonymous_variant	11122	exon30			TCGTCGGACCACT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4071C>T	20.37:g.40713387G>A		Somatic	219	0		WXS	Illumina GAIIx	Phase_I	348	95	NM_133170	0	0	0	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																			.		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40713387	G	A	40713387	2	1	30	1	0	0	0	0	0	0	0	1	12857	1161	41	3		3	PTPRT	20	40713387	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7632991	40713387	22312133	247	5522											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000481847.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_052951	0	0	0	8	8	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	30	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	3707295	44420682	18604838	248	5523											
KRTAP11-1	337880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	32253737	32253737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacagatgccgcccaggCagtcagcatcagtggtggaa	13	11	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:32253737C>A	ENST00000332378.4	-	1	137	c.107G>T	c.(106-108)tGc>tTc	p.C36F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	36						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GCCGCCCAGGCAGTCAGCATC	0.567																																					p.C36F		.											.	KRTAP11-1-91	0			c.G107T						.						79	75	77					21																	32253737		2203	4300	6503	SO:0001583	missense	337880	exon1			CCCAGGCAGTCAG	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.107G>T	21.37:g.32253737C>A	ENSP00000330720:p.Cys36Phe	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	353	82	NM_175858	0	0	0	0	0	A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628593	0.28978	.	.	ENSG00000182591	ENST00000332378	T	0.03152	4.03	5.4	4.51	0.55191	.	0.124777	0.52532	D	0.000076	T	0.09512	0.0234	L	0.48174	1.505	0.41873	D	0.990283	D	0.61080	0.989	D	0.63488	0.915	T	0.18304	-1.0341	10	0.36615	T	0.2	-12.1311	8.0879	0.30784	0.0:0.7557:0.1592:0.0851	.	36	Q8IUC1	KR111_HUMAN	F	36	ENSP00000330720:C36F	ENSP00000330720:C36F	C	-	2	0	KRTAP11-1	31175608	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.433000	0.52834	1.439000	0.47511	0.650000	0.86243	TGC	.		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			A	32253737	C	A	32253737	3	1	30	1	0	0	0	0	1	0	0	0	8544	710	25	3	388	3	KRTAP11-1	21	32253737	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		32253737	15876158	249	5524											
HUNK	30811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	33371313	33371313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgcagcctctggggagccCcaattgtgtgaaaagccgag	13	11	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:33371313C>G	ENST00000270112.2	+	11	2321	c.1961C>G	c.(1960-1962)cCc>cGc	p.P654R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	654					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						CTGGGGAGCCCCAATTGTGTG	0.577																																					p.P654R		.											.	HUNK-334	0			c.C1961G						.						41	44	43					21																	33371313		2203	4300	6503	SO:0001583	missense	30811	exon11			GGAGCCCCAATTG	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.1961C>G	21.37:g.33371313C>G	ENSP00000270112:p.Pro654Arg	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	39	11	NM_014586	0	0	0	0	0		Missense_Mutation	SNP	ENST00000270112.2	37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366595	0.41902	.	.	ENSG00000142149	ENST00000270112	T	0.81247	-1.47	4.42	3.54	0.40534	.	0.000000	0.64402	D	0.000001	D	0.82907	0.5139	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	D	0.84252	0.0478	10	0.87932	D	0	-9.1327	12.379	0.55295	0.0:0.9185:0.0:0.0815	.	654	P57058	HUNK_HUMAN	R	654	ENSP00000270112:P654R	ENSP00000270112:P654R	P	+	2	0	HUNK	32293184	0.998000	0.40836	0.821000	0.32701	0.343000	0.28985	4.882000	0.63121	1.083000	0.41159	-0.229000	0.12294	CCC	.		0.577	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		G	33371313	C	G	33371313	3	3	30	1	0	0	0	0	1	0	0	0	7485	623	22	3	2003	3	HUNK	21	33371313	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1117576	33371313	14758582	250	5525											
KCNJ6	3763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	38997475	38997475	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcactaaactttggattCattctccaggtttgccacat	8	10	2	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:38997475C>A	ENST00000609713.1	-	4	1847	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420*	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	420					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTTTGGATTCATTCTCCAGG	0.448																																					p.E420X	Pancreas(48;379 1118 2936 19024 28214)	.											.	KCNJ6-91	0			c.G1258T						.						205	194	198					21																	38997475		1891	4118	6009	SO:0001587	stop_gained	3763	exon4			TGGATTCATTCTC	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1258G>T	21.37:g.38997475C>A	ENSP00000477437:p.Glu420*	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	70	5	NM_002240	0	0	0	0	0	Q3MJ74|Q53WW6	Nonsense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204159	0.98704	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.44643	D	0.997623	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000288309:E420X	E	-	1	0	KCNJ6	37919345	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	GAA	.		0.448	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		A	38997475	C	A	38997475	4	1	30	1	0	0	0	0	0	1	0	0	8082	835	29	3	17	3	KCNJ6	21	38997475	Nonsense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	5626162	38997475	9132420	251	5526											
KRTAP10-9	386676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	46047395	46047395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcctgctgcgtgcccGtctgctgcaagcctgtgtgc	14	14	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:46047395G>A	ENST00000397911.3	+	1	356	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	103	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						ctgcgtgcccgtctgctgcaa	0.657																																					p.V103I		.											.	.	0			c.G307A						.						81	97	92					21																	46047395		2201	4299	6500	SO:0001583	missense	386676	exon1			GTGCCCGTCTGCT	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.307G>A	21.37:g.46047395G>A	ENSP00000381009:p.Val103Ile	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	509	133	NM_198690	0	0	0	0	0	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	2.993	-0.207654	0.06180	.	.	ENSG00000221837	ENST00000397911	T	0.00711	5.8	3.49	-1.3	0.09259	.	.	.	.	.	T	0.00784	0.0026	L	0.56340	1.77	0.09310	N	1	B	0.24576	0.106	B	0.13407	0.009	T	0.46735	-0.9170	8	.	.	.	.	0.9184	0.01309	0.3311:0.2141:0.3142:0.1406	.	103	P60411	KR109_HUMAN	I	103	ENSP00000381009:V103I	.	V	+	1	0	KRTAP10-9	44871823	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.517000	0.06275	-0.761000	0.04670	-0.811000	0.03165	GTC	.		0.657	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047395	G	A	46047395	3	1	30	1	0	0	0	0	1	0	0	0	8543	1145	40	1	309	1	KRTAP10-9	21	46047395	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	7049920	46047395	2082500	252	5527											
KRTAP10-10	353333	ucsc.edu	37	chr21	46057634	46057634	+	Silent	SNP	T	T	C													tgctgtgtgcctgtctgctgTgtgcccgtctgctgcgtgcc					rs61029972	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186				p.C100C		.											.	KRTAP10-10-90	0			c.T300C						.						126	121	123					21																	46057634		2203	4298	6501	SO:0001819	synonymous_variant	353333	exon1			CTGCTGTGTGCCC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.300T>C	21.37:g.46057634T>C		Somatic	137	1		WXS	Illumina GAIIx	Phase_I	346	113	NM_181688	0	0	0	0	0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			T|0.860;C|0.140		0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057634	T	C	46057634	2	2	30	1	0	0	0	0	0	0	0	1	8533	1702	59	4		4	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	10239	46057634	2072261	253	5528	42	2									
KRTAP10-10	353333	ucsc.edu	37	chr21	46057640	46057640	+	Silent	SNP	C	C	T													gtgcctgtctgctgtgtgccCgtctgctgcgtgcccgtctg					rs78817801		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr21:46057640C>T	ENST00000380095.1	+	1	368	c.306C>T	c.(304-306)ccC>ccT	p.P102P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	102	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcccgtctgctgcg	0.622																																					p.P102P		.											.	KRTAP10-10-90	0			c.C306T						.						144	131	135					21																	46057640		2203	4299	6502	SO:0001819	synonymous_variant	353333	exon1			TGTGCCCGTCTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.306C>T	21.37:g.46057640C>T		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	365	71	NM_181688	0	0	0	0	0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|0.983;T|0.017		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		T	46057640	C	T	46057640	2	4	30	1	0	0	0	0	0	0	0	1	8533	639	23	1		1	KRTAP10-10	21	46057640	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	6	46057640	2072255	254	5529	42	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G													gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc					rs759610		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	30	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10		20780091	30524475	255	5530	43	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C													tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt					rs759609		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	30	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	6	20780097	30524469	256	5531	43	2									
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	55	7	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	30	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5K9-01A-11D-A29I-10	563869	21343966	29960600	257	5532											
BCR	613	hgsc.bcm.edu	37	chr22	23655084	23655084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttccagataacaaggaCgtgtcggtgatgatgagcga	12	8	1	4	rs11558697	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:23655084C>T	ENST00000305877.8	+	20	4084	c.3333C>T	c.(3331-3333)gaC>gaT	p.D1111D	BCR_ENST00000359540.3_Silent_p.D1067D|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1111	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ATAACAAGGACGTGTCGGTGA	0.582			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								.|||	595	0.11881	0.118	0.1643	5008	,	,		25223	0.002		0.2555	False		,,,				2504	0.0675				p.D1111D		.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR-1349	0			c.C3333T						.	C	,	549,3625		32,485,1570	45	44	45		3333,3201	-5.1	1	22	dbSNP_120	45	1791,6111		221,1349,2381	no	coding-synonymous,coding-synonymous	BCR	NM_004327.3,NM_021574.2	,	253,1834,3951	TT,TC,CC		22.6651,13.1529,19.3773	,	1111/1272,1067/1228	23655084	2340,9736	2087	3951	6038	SO:0001819	synonymous_variant	613	exon20			CAAGGACGTGTCG		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3333C>T	22.37:g.23655084C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_004327	0	0	0	0	0	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			.		0.582	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23655084	C	T	23655084	2	4	30	1	0	0	0	0	0	0	0	1	1389	535	19	1		1	BCR	22	23655084	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	2311118	23655084	27649482	258	5533											
MN1	4330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	28192787	28192787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctggggtttggccttctCccagggcgccaacgtcttgt	13	12	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:28192787C>T	ENST00000302326.4	-	1	4699	c.3745G>A	c.(3745-3747)Gag>Aag	p.E1249K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1249					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCTTCTCCCAGGGCGCC	0.622			T	ETV6	"AML, meningioma"																																p.E1249K		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.G3745A						.						97	103	101					22																	28192787		2117	4216	6333	SO:0001583	missense	4330	exon1			CCTTCTCCCAGGG	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3745G>A	22.37:g.28192787C>T	ENSP00000304956:p.Glu1249Lys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	176	71	NM_002430	0	0	2	2	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778523	0.90195	.	.	ENSG00000169184	ENST00000302326	T	0.59906	0.23	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.29908	0.895	0.58432	D	0.999993	D	0.69078	0.997	P	0.61800	0.894	T	0.68693	-0.5341	10	0.72032	D	0.01	-23.0169	17.1755	0.86840	0.0:1.0:0.0:0.0	.	1249	Q10571	MN1_HUMAN	K	1249	ENSP00000304956:E1249K	ENSP00000304956:E1249K	E	-	1	0	MN1	26522787	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.249000	0.78278	2.284000	0.76573	0.306000	0.20318	GAG	.		0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28192787	C	T	28192787	3	4	30	1	0	0	0	0	1	0	0	0	9711	864	30	3	225	3	MN1	22	28192787	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	4537703	28192787	23111779	259	5534											
OSBP2	23762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	31137254	31137254	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccagtggggccaggAgctaccacctcaaggccagc	13	14	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:31137254A>T	ENST00000332585.6	+	2	855	c.751A>T	c.(751-753)Agc>Tgc	p.S251C	OSBP2_ENST00000382310.3_Missense_Mutation_p.S251C|OSBP2_ENST00000403222.3_Missense_Mutation_p.S86C|OSBP2_ENST00000407373.1_Missense_Mutation_p.S78C|OSBP2_ENST00000446658.2_Missense_Mutation_p.S251C	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	251	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGGGGCCAGGAGCTACCACCT	0.612																																					p.S251C		.											.	OSBP2-114	0			c.A751T						.						41	44	43					22																	31137254		2043	4179	6222	SO:0001583	missense	23762	exon2			GCCAGGAGCTACC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.751A>T	22.37:g.31137254A>T	ENSP00000332576:p.Ser251Cys	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	116	53	NM_030758	0	0	5	6	1	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494239	0.85069	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.79141	0.89;0.89;-1.24;-1.24;-1.24	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.165380	0.52532	D	0.000061	D	0.85669	0.5750	M	0.73372	2.23	0.80722	D	1	D;B;B;B;B	0.58970	0.984;0.015;0.015;0.033;0.033	P;B;B;B;B	0.61874	0.895;0.018;0.011;0.11;0.11	D	0.87031	0.2135	10	0.59425	D	0.04	-36.1819	14.6853	0.69044	1.0:0.0:0.0:0.0	.	251;86;78;251;251	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	C	86;86;78;251;251;251	ENSP00000384213:S86C;ENSP00000385237:S78C;ENSP00000332576:S251C;ENSP00000371747:S251C;ENSP00000392080:S251C	ENSP00000332576:S251C	S	+	1	0	OSBP2	29467254	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	9.339000	0.96797	1.952000	0.56665	0.379000	0.24179	AGC	.		0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		T	31137254	A	T	31137254	3	4	30	1	0	0	0	0	1	0	0	0	11313	304	11	5	757	5	OSBP2	22	31137254	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	2944467	31137254	20167312	260	5535											
UPK3A	7380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	45681905	45681905	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtggccttggaaaagcctCtctgcatgtttgacagcaaa	10	10	1	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chr22:45681905C>A	ENST00000216211.4	+	2	168	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	UPK3A_ENST00000396082.2_Missense_Mutation_p.L46I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	46					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)		GGAAAAGCCTCTCTGCATGTT	0.572																																					p.L46I		.											.	UPK3A-90	0			c.C136A						.						149	109	123					22																	45681905		2203	4300	6503	SO:0001583	missense	7380	exon2			AAGCCTCTCTGCA	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.136C>A	22.37:g.45681905C>A	ENSP00000216211:p.Leu46Ile	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	208	103	NM_006953	0	0	0	0	0	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530013	0.64860	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.83755	-0.1;-1.76	5.27	4.18	0.49190	.	0.229521	0.37136	N	0.002237	T	0.67702	0.2921	L	0.34521	1.04	0.20926	N	0.999825	P;P	0.38597	0.551;0.639	B;B	0.35727	0.209;0.066	T	0.56613	-0.7950	10	0.22109	T	0.4	-15.2331	3.6404	0.08165	0.2474:0.6084:0.0:0.1442	.	46;46	O75631-2;O75631	.;UPK3A_HUMAN	I	46	ENSP00000216211:L46I;ENSP00000379391:L46I	ENSP00000216211:L46I	L	+	1	0	UPK3A	44060569	0.850000	0.29656	0.918000	0.36340	0.962000	0.63368	1.238000	0.32707	2.435000	0.82474	0.655000	0.94253	CTC	.		0.572	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		A	45681905	C	A	45681905	3	1	30	1	0	0	0	0	1	0	0	0	17059	913	32	3	142	3	UPK3A	22	45681905	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	14544651	45681905	5622661	261	5536											
NLGN4X	57502	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	5821337	5821337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggggagccgtactgcGcgtgcaggtcggcggtggcc	21	10	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:5821337G>A	ENST00000381095.3	-	5	2009	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.A461V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.A461V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.A461V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.A481V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	461					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCCGTACTGCGCGTGCAGGTC	0.622																																					p.A461V		.											.	NLGN4X-195	0			c.C1382T						.						33	31	32					X																	5821337		2203	4297	6500	SO:0001583	missense	57502	exon5			TACTGCGCGTGCA	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1382C>T	X.37:g.5821337G>A	ENSP00000370485:p.Ala461Val	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	197	99	NM_181332	0	0	0	0	0	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278032	0.40294	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.79464	0.4450	M	0.73753	2.245	0.80722	D	1	D;D;P	0.89917	0.963;1.0;0.949	B;D;B	0.65010	0.418;0.931;0.055	T	0.83035	-0.0160	9	0.87932	D	0	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	518;461;481	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	461;481;461;461;461	ENSP00000370485:A461V;ENSP00000370483:A481V;ENSP00000275857:A461V;ENSP00000370482:A461V;ENSP00000439203:A461V	ENSP00000275857:A461V	A	-	2	0	NLGN4X	5831337	1.000000	0.71417	0.717000	0.30585	0.005000	0.04900	8.442000	0.90317	1.579000	0.49836	0.600000	0.82982	GCG	.		0.622	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		A	5821337	G	A	5821337	3	1	30	1	0	0	0	0	1	0	0	0	10503	1087	38	1	1076	1	NLGN4X	23	5821337	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10		5821337	149449223	262	5537											
HDHD1A	8226	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	7023778	7023778	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tataatctgtgccgcctctaAtgccttcttacccataacca	4	14	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:7023778A>C	ENST00000381077.5	-	2	239	c.163T>G	c.(163-165)Tta>Gta	p.L55V	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000424830.2_Missense_Mutation_p.L78V|HDHD1_ENST00000540122.1_Missense_Mutation_p.L55V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	55					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GCCGCCTCTAATGCCTTCTTA	0.448																																					p.L78V		.											.	HDHD1-130	0			c.T232G						.						65	60	61					X																	7023778		1883	4103	5986	SO:0001583	missense	8226	exon3			CCTCTAATGCCTT	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.163T>G	X.37:g.7023778A>C	ENSP00000370467:p.Leu55Val	Somatic	253	1		WXS	Illumina GAIIx	Phase_I	173	24	NM_001135565	0	0	2	5	3	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	a	4.104	0.017477	0.07959	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	4.01	-6.61	0.01818	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.329251	0.28230	N	0.016108	T	0.04588	0.0125	L	0.45698	1.435	0.09310	N	0.999994	B;B;B;B	0.24675	0.109;0.011;0.014;0.0	B;B;B;B	0.25759	0.038;0.063;0.028;0.009	T	0.23940	-1.0174	10	0.25751	T	0.34	-18.8253	8.4263	0.32731	0.3091:0.0:0.5652:0.1257	.	55;78;55;55	Q08623-3;E9PAV8;E7EVH9;Q08623	.;.;.;HDHD1_HUMAN	V	55;71;78;55;55	ENSP00000370467:L55V;ENSP00000396452:L78V;ENSP00000441208:L55V;ENSP00000430995:L55V	ENSP00000370467:L55V	L	-	1	2	HDHD1	7033778	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-0.317000	0.08060	-1.751000	0.01326	-0.444000	0.05651	TTA	.		0.448	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		C	7023778	A	C	7023778	3	2	30	1	0	0	0	0	1	0	0	0	7049	98	4	5	656	5	HDHD1A	23	7023778	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	1202441	7023778	148246782	263	5538											
FAM9A	171482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	8763192	8763192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttctccttctcctcctcctCctccttcttctccttcttct	0	21	6	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:8763192C>A	ENST00000543214.1	-	7	893	c.758G>T	c.(757-759)gGa>gTa	p.G253V	FAM9A_ENST00000381003.3_Missense_Mutation_p.G253V	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	253	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcctcctcctcctccttcttc	0.458																																					p.G253V		.											.	FAM9A-130	0			c.G758T						.						44	38	40					X																	8763192		2193	4280	6473	SO:0001583	missense	171482	exon7			CCTCCTCCTCCTT		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.758G>T	X.37:g.8763192C>A	ENSP00000440163:p.Gly253Val	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	58	35	NM_174951	0	0	0	0	0	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	0.231	-1.021239	0.02061	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	-1.01	0.10169	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.23655	-1.0182	7	0.87932	D	0	.	.	.	.	.	253	Q8IZU1	FAM9A_HUMAN	V	253	.	ENSP00000370391:G253V	G	-	2	0	FAM9A	8723192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-1.395000	0.02516	-2.904000	0.00310	-2.528000	0.00182	GGA	.		0.458	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		A	8763192	C	A	8763192	3	1	30	1	0	0	0	0	1	0	0	0	5681	855	30	3	252	3	FAM9A	23	8763192	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1739414	8763192	146507368	264	5539											
FRMPD4	9758	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	12734821	12734821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaaacactgatgacgCggaggacgaggacgaggtga	16	7	0	4	rs370344979		TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:12734821C>T	ENST00000380682.1	+	15	2749	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	748					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTGATGACGCGGAGGACGAG	0.562																																					p.A748V		.											.	FRMPD4-263	0			c.C2243T						.						115	108	110					X																	12734821		2203	4300	6503	SO:0001583	missense	9758	exon15			ATGACGCGGAGGA	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2243C>T	X.37:g.12734821C>T	ENSP00000370057:p.Ala748Val	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	178	92	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	7.699	0.692717	0.15039	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.38887	1.11	5.56	2.85	0.33270	.	0.169624	0.51477	N	0.000090	T	0.26048	0.0635	L	0.28192	0.835	0.32554	N	0.53194	B;B	0.23990	0.095;0.095	B;B	0.14023	0.01;0.01	T	0.21211	-1.0252	10	0.33940	T	0.23	.	8.2837	0.31915	0.0:0.6889:0.0:0.3111	.	740;748	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	748;739;737	ENSP00000370057:A748V	ENSP00000304583:A737V	A	+	2	0	FRMPD4	12644742	0.975000	0.34042	0.022000	0.16811	0.057000	0.15508	2.411000	0.44600	0.540000	0.28808	-0.881000	0.02953	GCG	.		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12734821	C	T	12734821	3	4	30	1	0	0	0	0	1	0	0	0	6083	768	27	1	2301	1	FRMPD4	23	12734821	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	3971629	12734821	142535739	265	5540											
DMD	1756	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	31196848	31196848	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcccattcggggatgcttCgcaaaataccttttggttcg	10	10	0	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:31196848C>T	ENST00000357033.4	-	70	10367	c.10161G>A	c.(10159-10161)gcG>gcA	p.A3387A	DMD_ENST00000361471.4_Silent_p.A319A|DMD_ENST00000378677.2_Silent_p.A3383A|DMD_ENST00000378680.2_Silent_p.A319A|DMD_ENST00000378707.3_Silent_p.A927A|DMD_ENST00000343523.2_Silent_p.A927A|DMD_ENST00000541735.1_Silent_p.A927A|DMD_ENST00000474231.1_Silent_p.A927A|DMD_ENST00000378723.3_Silent_p.A319A|DMD_ENST00000359836.1_Silent_p.A927A|DMD_ENST00000378702.4_Silent_p.A319A	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	3387	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)				GGGGATGCTTCGCAAAATACC	0.438																																					p.A3387A		.											.	DMD-265	0			c.G10161A						.						193	153	167					X																	31196848		2202	4300	6502	SO:0001819	synonymous_variant	1756	exon70			ATGCTTCGCAAAA	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.10161G>A	X.37:g.31196848C>T		Somatic	260	2		WXS	Illumina GAIIx	Phase_I	139	62	NM_004006	0	0	0	10	10	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088198	0.20390	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.3	4.4	0.53042	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52510	-0.8566	4	.	.	.	.	5.4673	0.16650	0.0:0.4972:0.3703:0.1325	.	.	.	.	K	1116	.	.	E	-	1	0	DMD	31106769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.710000	0.54860	2.458000	0.83093	0.600000	0.82982	GAA	.		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31196848	C	T	31196848	2	4	30	1	0	0	0	0	0	0	0	1	4594	871	31	1		1	DMD	23	31196848	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	18462027	31196848	124073712	266	5541											
WDR45	11152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48935337	48935337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgggactactaccaccgCccaccaaggccagaaggttg	10	14	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:48935337C>T	ENST00000376372.3	-	4	381	c.200G>A	c.(199-201)gGc>gAc	p.G67D	WDR45_ENST00000376368.2_Missense_Mutation_p.G67D|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.G67D|WDR45_ENST00000465431.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.G67D|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.G67D|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000356463.3_Missense_Mutation_p.G67D	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	67					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ACTACCACCGCCCACCAAGGC	0.612																																					p.G67D		.											.	WDR45-131	0			c.G200A						.						50	31	37					X																	48935337		2200	4299	6499	SO:0001583	missense	11152	exon5			CCACCGCCCACCA	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.200G>A	X.37:g.48935337C>T	ENSP00000365551:p.Gly67Asp	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	111	59	NM_007075	0	0	0	30	30	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240329	0.79912	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000474053;ENST00000419567;ENST00000465382	T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;2.41;0.49;0.49;0.49	3.81	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.81239	2.535	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.992;0.995;0.998;0.995	D;P;D;D;P	0.70935	0.95;0.883;0.945;0.971;0.849	T	0.77723	-0.2481	10	0.87932	D	0	-23.0804	14.4896	0.67642	0.0:1.0:0.0:0.0	.	67;67;67;67;67	B4DVH6;C9J471;Q9Y484-2;Q9Y484-3;Q9Y484	.;.;.;.;WIPI4_HUMAN	D	67	ENSP00000365551:G67D;ENSP00000365543:G67D;ENSP00000348848:G67D;ENSP00000417211:G67D;ENSP00000365546:G67D;ENSP00000379913:G67D;ENSP00000418466:G67D;ENSP00000420728:G67D;ENSP00000393640:G67D;ENSP00000420534:G67D	ENSP00000365543:G67D	G	-	2	0	WDR45	48822281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.059000	0.76684	2.149000	0.67028	0.529000	0.55759	GGC	.		0.612	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		T	48935337	C	T	48935337	3	4	30	1	0	0	0	0	1	0	0	0	17346	739	26	3	917	3	WDR45	23	48935337	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	17738489	48935337	106335223	267	5542											
MAGIX	79917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49021301	49021301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtcatttctctgtggAgctggttcgcggttacgcag	13	10	3	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:49021301A>T	ENST00000412696.2	+	4	380	c.380A>T	c.(379-381)gAg>gTg	p.E127V	MAGIX_ENST00000376339.1_Missense_Mutation_p.E68V|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Missense_Mutation_p.E68V	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	127	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																TTCTCTGTGGAGCTGGTTCGC	0.607																																					p.E127V		.											.	MAGIX-108	0			c.A380T						.						87	88	88					X																	49021301		2004	4146	6150	SO:0001583	missense	79917	exon4			CTGTGGAGCTGGT	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.380A>T	X.37:g.49021301A>T	ENSP00000387928:p.Glu127Val	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	95	39	NM_024859	0	0	0	0	0	A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	CCDS48106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.38|17.38	3.374732|3.374732	0.61735|0.61735	.|.	.|.	ENSG00000017621|ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285|ENST00000415364	T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69|.	4.66|4.66	3.46|3.46	0.39613|0.39613	PDZ/DHR/GLGF (3);|.	0.000000|.	0.43919|.	D|.	0.000503|.	T|T	0.37865|0.37865	0.1019|0.1019	L|L	0.43554|0.43554	1.36|1.36	0.28247|0.28247	N|N	0.925427|0.925427	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.997;0.997|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.87932|.	D|.	0|.	-15.7219|-15.7219	7.103|7.103	0.25348|0.25348	0.7963:0.0:0.0:0.2037|0.7963:0.0:0.0:0.2037	.|.	127;68;68|.	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2|.	MAGIX_HUMAN;.;.|.	V|C	68;127;68;73|96	ENSP00000365517:E68V;ENSP00000387928:E127V;ENSP00000365516:E68V;ENSP00000411713:E73V|.	ENSP00000365516:E68V|.	E|S	+|+	2|1	0|0	MAGIX|MAGIX	48908245|48908245	1.000000|1.000000	0.71417|0.71417	0.204000|0.204000	0.23530|0.23530	0.146000|0.146000	0.21551|0.21551	1.544000|1.544000	0.36158|0.36158	0.684000|0.684000	0.31448|0.31448	0.427000|0.427000	0.28365|0.28365	GAG|AGC	.		0.607	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		T	49021301	A	T	49021301	3	4	30	1	0	0	0	0	1	0	0	0	9231	304	11	5	434	5	MAGIX	23	49021301	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	85964	49021301	106249259	268	5543											
KIAA2022	340533	broad.mit.edu	37	chrX	73961529	73961529	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcagatgggagttgggtatCttgcatggagtcatacagga	14	5	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:73961529C>G	ENST00000055682.6	-	3	3474	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	955					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTTGGGTATCTTGCATGGAG	0.428																																					p.D955H		.											.	KIAA2022-183	0			c.G2863C						.						176	151	160					X																	73961529		2203	4300	6503	SO:0001583	missense	340533	exon3			GGGTATCTTGCAT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2863G>C	X.37:g.73961529C>G	ENSP00000055682:p.Asp955His	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	172	5	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069885	0.36566	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.36699	1.24;1.24	5.58	4.72	0.59763	.	0.387015	0.30820	N	0.008811	T	0.43144	0.1234	L	0.36672	1.1	0.50171	D	0.999858	D	0.54207	0.965	P	0.55260	0.772	T	0.33163	-0.9879	10	0.56958	D	0.05	-8.3044	13.5585	0.61775	0.0:0.9236:0.0:0.0764	.	955	Q5QGS0	K2022_HUMAN	H	955	ENSP00000362567:D955H;ENSP00000055682:D955H	ENSP00000055682:D955H	D	-	1	0	KIAA2022	73878254	1.000000	0.71417	0.709000	0.30452	0.040000	0.13550	4.635000	0.61332	1.130000	0.42092	0.600000	0.82982	GAT	.		0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		G	73961529	C	G	73961529	3	3	30	1	0	0	0	0	1	0	0	0	8296	913	32	3	1695	3	KIAA2022	23	73961529	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	24940228	73961529	81309031	269	5544											
ARL13A	392509	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	100229150	100229150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcattggcttgaacaacTctggcaaaactgttcttgtg	8	9	3	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:100229150T>C	ENST00000450049.2	+	3	207	c.94T>C	c.(94-96)Tct>Cct	p.S32P		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	32					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						CTTGAACAACTCTGGCAAAAC	0.418																																					p.S32P		.											.	ARL13A-131	0			c.T94C						.						87	71	76					X																	100229150		1847	4078	5925	SO:0001583	missense	392509	exon3			AACAACTCTGGCA		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.94T>C	X.37:g.100229150T>C	ENSP00000398637:p.Ser32Pro	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	83	7	NM_001162490	0	0	0	0	0	B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	T	9.928	1.214009	0.22289	.	.	ENSG00000174225	ENST00000450049	T	0.65549	-0.16	3.24	0.556	0.17253	.	0.141185	0.46758	D	0.000279	T	0.76912	0.4054	M	0.88906	2.99	0.09310	N	0.999994	D;D	0.71674	0.998;0.998	D;D	0.75020	0.985;0.985	T	0.66344	-0.5947	10	0.87932	D	0	.	6.7831	0.23657	0.0:0.0:0.4871:0.5129	.	32;32	B2RTT6;Q5H913	.;AR13A_HUMAN	P	32	ENSP00000398637:S32P	ENSP00000398637:S32P	S	+	1	0	ARL13A	100115806	0.717000	0.27966	0.258000	0.24420	0.112000	0.19704	0.808000	0.27154	0.024000	0.15214	0.486000	0.48141	TCT	.		0.418	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		C	100229150	T	C	100229150	3	2	30	1	0	0	0	0	1	0	0	0	928	1551	54	4	100	4	ARL13A	23	100229150	Missense_Mutation	SNP	T	TCGA-OR-A5K9-01A-11D-A29I-10	26267621	100229150	55041410	270	5545											
ZMAT1	84460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	101139313	101139313	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtatggtcgttggtaggtCtgggaagcctcatgtgaaaa	15	5	2	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:101139313C>T	ENST00000372782.3	-	7	1133	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	ZMAT1_ENST00000540921.1_Silent_p.Q362Q|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.Q191Q	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	362						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						GTTGGTAGGTCTGGGAAGCCT	0.443																																					p.Q362Q		.											.	ZMAT1-131	0			c.G1086A						.						160	143	149					X																	101139313		2203	4300	6503	SO:0001819	synonymous_variant	84460	exon7			GTAGGTCTGGGAA	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.1086G>A	X.37:g.101139313C>T		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	133	19	NM_001011657	0	0	1	1	0	Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	CCDS35348.1																																																																																			.		0.443	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			T	101139313	C	T	101139313	2	4	30	1	0	0	0	0	0	0	0	1	17739	912	32	3		3	ZMAT1	23	101139313	Silent	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	910163	101139313	54131247	271	5546											
MORF4L2	9643	ucsc.edu	37	chrX	102931750	102931750	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggtcttcctcacggatcctGaaggggggttctctgcagag	14	10	3	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:102931750G>T	ENST00000441076.2	-	4	510	c.206C>A	c.(205-207)tCa>tAa	p.S69*	MORF4L2_ENST00000451301.1_Nonsense_Mutation_p.S69*|MORF4L2_ENST00000423833.2_Nonsense_Mutation_p.S69*|MORF4L2_ENST00000422154.2_Nonsense_Mutation_p.S69*|MORF4L2_ENST00000360458.1_Nonsense_Mutation_p.S69*|MORF4L2_ENST00000433176.2_Nonsense_Mutation_p.S69*|MORF4L2_ENST00000492116.1_5'UTR	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	69					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CACGGATCCTGAAGGGGGGTT	0.562																																					p.S69X		.											.	MORF4L2-130	0			c.C206A						.						64	54	58					X																	102931750		2203	4300	6503	SO:0001587	stop_gained	9643	exon5			GATCCTGAAGGGG	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.206C>A	X.37:g.102931750G>T	ENSP00000391969:p.Ser69*	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_001142422	0	0	278	278	0	B3KP92|D3DXA5|Q567V0|Q8J026	Nonsense_Mutation	SNP	ENST00000441076.2	37	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903488	0.92035	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	.	.	.	4.52	4.52	0.55395	.	0.170067	0.28119	N	0.016527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-13.0377	11.5361	0.50639	0.0:0.0:1.0:0.0	.	.	.	.	X	69;69;69;69;51;69;69;69;69;69	.	ENSP00000353643:S69X	S	-	2	0	MORF4L2	102818406	0.997000	0.39634	0.985000	0.45067	0.986000	0.74619	3.325000	0.52030	2.496000	0.84212	0.600000	0.82982	TCA	.		0.562	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		T	102931750	G	T	102931750	4	4	30	1	0	0	0	0	0	1	0	0	9745	1294	45	3	664	3	MORF4L2	23	102931750	Nonsense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	1792437	102931750	52338810	272	5547											
PAK3	5063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	110439738	110439738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcactatggtgggaacccCatattggatggcacctgagg	13	9	0	1			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:110439738C>T	ENST00000372010.1	+	17	1764	c.1322C>T	c.(1321-1323)cCa>cTa	p.P441L	PAK3_ENST00000425146.1_Missense_Mutation_p.P426L|PAK3_ENST00000519681.1_Missense_Mutation_p.P447L|PAK3_ENST00000372007.5_Missense_Mutation_p.P426L|PAK3_ENST00000262836.4_Missense_Mutation_p.P441L|PAK3_ENST00000518291.1_Missense_Mutation_p.P462L|PAK3_ENST00000446737.1_Missense_Mutation_p.P426L|PAK3_ENST00000417227.1_Missense_Mutation_p.P447L|PAK3_ENST00000360648.4_Missense_Mutation_p.P462L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	441	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGGGAACCCCATATTGGATG	0.458										TSP Lung(19;0.15)																											p.P462L		.											.	PAK3-1043	0			c.C1385T						.						134	126	129					X																	110439738		2203	4300	6503	SO:0001583	missense	5063	exon14			GAACCCCATATTG	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1322C>T	X.37:g.110439738C>T	ENSP00000361080:p.Pro441Leu	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	152	60	NM_001128168	0	0	0	0	0	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335488	0.81801	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;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;2.4	5.23	5.23	0.72850	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	0.43809	0.1264	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.977;0.987;0.987;0.996;0.987	T	0.40887	-0.9539	10	0.72032	D	0.01	.	18.0833	0.89449	0.0:1.0:0.0:0.0	.	447;462;441;426;441	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	L	426;426;441;447;426;462;462;447;441	ENSP00000410853:P426L;ENSP00000401982:P426L;ENSP00000361080:P441L;ENSP00000429113:P447L;ENSP00000361077:P426L;ENSP00000428921:P462L;ENSP00000353864:P462L;ENSP00000389172:P447L;ENSP00000262836:P441L	ENSP00000262836:P441L	P	+	2	0	PAK3	110326394	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.471000	0.80985	2.293000	0.77203	0.594000	0.82650	CCA	.		0.458	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		T	110439738	C	T	110439738	3	4	30	1	0	0	0	0	1	0	0	0	11441	594	21	3	1439	3	PAK3	23	110439738	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7507988	110439738	44830822	273	5548											
WDR44	54521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117532433	117532433	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggttaaaacagaaaaCgtgagttacagtacatccct	9	7	0	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:117532433C>A	ENST00000254029.3	+	8	1669	c.1274C>A	c.(1273-1275)aCg>aAg	p.T425K	WDR44_ENST00000371822.5_Splice_Site_p.T400K|WDR44_ENST00000371825.3_Splice_Site_p.T425K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	425						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						AAACAGAAAACGTGAGTTACA	0.353																																					p.T425K		.											.	WDR44-133	0			c.C1274A						.						139	117	124					X																	117532433		2203	4300	6503	SO:0001630	splice_region_variant	54521	exon8			AGAAAACGTGAGT	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.1274+1C>A	X.37:g.117532433C>A		Somatic	540	0		WXS	Illumina GAIIx	Phase_I	383	147	NM_001184965	0	0	0	0	0	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.461140|5.461140	0.96240|0.96240	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.74947	.|-0.89;-0.28;-0.15	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84620|0.84620	0.5512|0.5512	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.89917	.|0.971;0.946;1.0;0.912	.|P;P;D;P	.|0.97110	.|0.903;0.644;1.0;0.626	D|D	0.84720|0.84720	0.0739|0.0739	5|10	.|0.54805	.|T	.|0.06	-0.1265|-0.1265	18.0906|18.0906	0.89474|0.89474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|400;425;425;425	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	K|K	324|400;425;425	.|ENSP00000360887:T400K;ENSP00000254029:T425K;ENSP00000360890:T425K	.|ENSP00000254029:T425K	N|T	+|+	3|2	2|0	WDR44|WDR44	117416461|117416461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.581000|7.581000	0.82535|0.82535	2.495000|2.495000	0.84180|0.84180	0.600000|0.600000	0.82982|0.82982	AAC|ACG	.		0.353	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	Missense_Mutation	A	117532433	C	A	117532433	5	1	30	1	0	0	0	0	0	0	1	0	17345	550	19	2	1304	2	WDR44	23	117532433	Splice_Site	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	7092695	117532433	37738127	274	5549											
F9	2158	bcgsc.ca	37	chrX	138633280	138633280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctcacccgtgctgagActgtttttcctgatgtggac	10	11	1	2	rs6048	byFrequency	TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:138633280A>G	ENST00000218099.2	+	6	587	c.580A>G	c.(580-582)Act>Gct	p.T194A	F9_ENST00000394090.2_Missense_Mutation_p.T156A	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	194			T -> A (in dbSNP:rs6048). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:2994716, ECO:0000269|PubMed:3857619, ECO:0000269|PubMed:6329734}.		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)	CCGTGCTGAGACTGTTTTTCC	0.373													A|||	550	0.145695	0.1036	0.1037	3775	,	,		14937	0.001		0.2237	False		,,,				2504	0.1176				p.T194A		.											.	F9-227	0			c.A580G						.	A	ALA/THR	474,3361		17,377,63,1238,508	119	104	109	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	580	1.2	0	X	dbSNP_52	109	2007,4721		228,1013,538,1187,1334	yes	missense	F9	NM_000133.3	58	245,1390,601,2425,1842	GG,GA,G,AA,A		29.8306,12.3598,23.4876	benign	194/462	138633280	2481,8082	2203	4300	6503	SO:0001583	missense	2158	exon6			GCTGAGACTGTTT	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.580A>G	X.37:g.138633280A>G	ENSP00000218099:p.Thr194Ala	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	114	5	NM_000133	0	0	0	0	0	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	261	0.15732368896925858	32	0.06694560669456066	31	0.09281437125748503	0	0.0	115	0.18138801261829654	A	0.020	-1.437526	0.01098	0.123598	0.298306	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.94417	-3.42;-3.42	4.94	1.21	0.21127	.	1.193210	0.05709	N	0.595504	T	0.00039	0.0001	L	0.60455	1.87	0.80722	P	0.0	B;B	0.12013	0.005;0.0	B;B	0.12837	0.008;0.003	T	0.12889	-1.0530	9	0.15499	T	0.54	.	3.6323	0.08137	0.5672:0.0:0.2742:0.1586	rs6048;rs3181844;rs52802349;rs59606308;rs6048	156;194	Q5FBE1;P00740	.;FA9_HUMAN	A	194;156	ENSP00000218099:T194A;ENSP00000377650:T156A	ENSP00000218099:T194A	T	+	1	0	F9	138460946	0.001000	0.12720	0.008000	0.14137	0.151000	0.21798	0.477000	0.22196	-0.118000	0.11851	0.430000	0.28490	ACT	A|0.797;0|0.004		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			G	138633280	A	G	138633280	3	3	30	1	0	0	0	0	1	0	0	0	5370	275	10	4	602	4	F9	23	138633280	Missense_Mutation	SNP	A	TCGA-OR-A5K9-01A-11D-A29I-10	21100847	138633280	16637280	275	5550											
LDOC1	23641	broad.mit.edu	37	chrX	140271095	140271095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctggcgcagcaggctggCcctctcgcacaccagcagcc	11	18	1	0			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:140271095C>A	ENST00000370526.2	-	1	215	c.112G>T	c.(112-114)Gcc>Tcc	p.A38S	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	38					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					AGCAGGCTGGCCCTCTCGCAC	0.662																																					p.A38S		.											.	LDOC1-130	0			c.G112T						.						25	22	23					X																	140271095		2203	4299	6502	SO:0001583	missense	23641	exon1			GGCTGGCCCTCTC	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.112G>T	X.37:g.140271095C>A	ENSP00000359557:p.Ala38Ser	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	187	17	NM_012317	0	0	0	0	0	Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.303138	0.81136	.	.	ENSG00000182195	ENST00000370526	T	0.34472	1.36	3.61	3.61	0.41365	.	0.114139	0.36444	N	0.002590	T	0.26304	0.0642	L	0.46157	1.445	0.25161	N	0.990357	B	0.28713	0.22	B	0.23574	0.047	T	0.10965	-1.0607	10	0.14656	T	0.56	-6.8912	9.7936	0.40722	0.0:1.0:0.0:0.0	.	38	O95751	LDOC1_HUMAN	S	38	ENSP00000359557:A38S	ENSP00000359557:A38S	A	-	1	0	LDOC1	140098761	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.221000	0.51215	2.060000	0.61445	0.287000	0.19450	GCC	.		0.662	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		A	140271095	C	A	140271095	3	1	30	1	0	0	0	0	1	0	0	0	8737	739	26	3	332	3	LDOC1	23	140271095	Missense_Mutation	SNP	C	TCGA-OR-A5K9-01A-11D-A29I-10	1637815	140271095	14999465	276	5551											
TAZ	6901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153647890	153647890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttgcaggagatggcGtctaccagaaggggatggac	14	8	1	2			TCGA-OR-A5K9-01A-11D-A29I-10	TCGA-OR-A5K9-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	feb3eb04-dedc-49eb-aed6-89df22b5eaff	e8c64ccb-c7ba-449f-aafa-7fcf256ce2e5	g.chrX:153647890G>A	ENST00000350743.4	+	5	668	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	TAZ_ENST00000475699.1_Intron|TAZ_ENST00000351413.4_Missense_Mutation_p.V157I|TAZ_ENST00000299328.5_Missense_Mutation_p.V157I|TAZ_ENST00000369776.4_Missense_Mutation_p.V102I|TAZ_ENST00000369790.4_Missense_Mutation_p.V127I	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	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)					AGGAGATGGCGTCTACCAGAA	0.552																																					p.V157I		.											.	TAZ-130	0			c.G469A						.						105	84	91					X																	153647890		2203	4300	6503	SO:0001583	missense	6901	exon6			GATGGCGTCTACC	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.379G>A	X.37:g.153647890G>A	ENSP00000338891:p.Val127Ile	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	267	109	NM_181312	0	0	2	2	0	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946168	0.53079	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735	D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-3.15	5.41	5.41	0.78517	Phospholipid/glycerol acyltransferase (2);	0.000000	0.64402	U	0.000001	D	0.97595	0.9212	L	0.49699	1.58	0.80722	D	1	P;D;P;D;P;D	0.76494	0.937;0.99;0.935;0.969;0.865;0.999	P;P;P;P;B;D	0.81914	0.528;0.875;0.656;0.507;0.305;0.995	D	0.97687	1.0176	10	0.44086	T	0.13	-0.0133	15.6073	0.76682	0.0:0.0:1.0:0.0	.	175;102;127;127;157;157	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	I	127;157;127;145;157;102;126	ENSP00000358805:V127I;ENSP00000299328:V157I;ENSP00000338891:V127I;ENSP00000397388:V145I;ENSP00000218246:V157I;ENSP00000358791:V102I;ENSP00000398193:V126I	ENSP00000299328:V157I	V	+	1	0	TAZ	153301084	1.000000	0.71417	0.922000	0.36590	0.755000	0.42902	8.842000	0.92136	2.281000	0.76405	0.431000	0.28591	GTC	.		0.552	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			A	153647890	G	A	153647890	3	1	30	1	0	0	0	0	1	0	0	0	15643	1145	40	1	491	1	TAZ	23	153647890	Missense_Mutation	SNP	G	TCGA-OR-A5K9-01A-11D-A29I-10	13376795	153647890	1622670	277	5552											
TTLL10	254173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	1117120	1117120	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgtcccctgggctgcaGgctggaaaaggacgcagcag	14	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1117120G>A	ENST00000379290.1	+	9	928		c.e9-1		TTLL10_ENST00000379289.1_Splice_Site|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_Splice_Site			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGGCTGCAGGCTGGAAAAG	0.682																																					.		.											.	TTLL10-153	0			c.756-1G>A						.						25	24	25					1																	1117120		2189	4289	6478	SO:0001630	splice_region_variant	254173	exon9			GCTGCAGGCTGGA	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.756-1G>A	1.37:g.1117120G>A		Somatic	298	0		WXS	Illumina GAIIx	Phase_I	392	94	NM_001130045	0	0	0	0	0	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Splice_Site	SNP	ENST00000379290.1	37	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	G	4.514	0.095359	0.08681	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	.	.	.	2.71	0.674	0.17946	.	.	.	.	.	.	.	.	.	.	.	0.21290	N	0.999732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1436	0.06464	0.1508:0.0:0.5881:0.2611	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL10	1106983	0.010000	0.17322	0.005000	0.12908	0.041000	0.13682	1.261000	0.32980	0.186000	0.20125	0.456000	0.33151	.	.		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254	Intron	A	1117120	G	A	1117120	5	1	31	1	0	0	0	0	0	0	1	0	16772	1014	35	3	777	3	TTLL10	1	1117120	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		1117120	248133501	1	5553											
MXRA8	54587	hgsc.bcm.edu	37	chr1	1290077	1290077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgggcctggggcgcCgctgtggctggagccgttgc	17	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1290077C>T	ENST00000309212.6	-	5	964	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	MXRA8_ENST00000477278.2_Missense_Mutation_p.G303S|MXRA8_ENST00000342753.4_Missense_Mutation_p.G211S|MXRA8_ENST00000445648.2_Missense_Mutation_p.G312S	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	312					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGGGGCGCCGCTGTGGCTG	0.761																																					p.G312S		.											.	MXRA8-90	0			c.G934A						.						4	7	6					1																	1290077		1858	3883	5741	SO:0001583	missense	54587	exon5			GGGCGCCGCTGTG	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.934G>A	1.37:g.1290077C>T	ENSP00000307887:p.Gly312Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	36	14	NM_032348	0	0	0	0	0	B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	5.751	0.323007	0.10900	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.12361	2.69;2.69;2.69	3.87	-5.74	0.02391	.	2.050580	0.02264	N	0.067808	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17268	0.012;0.009;0.01;0.021;0.012	B;B;B;B;B	0.10450	0.002;0.001;0.003;0.005;0.002	T	0.33650	-0.9860	10	0.08837	T	0.75	-27.0753	6.5136	0.22236	0.0:0.3522:0.2133:0.4346	.	303;211;290;312;312	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	S	312;303;211;312	ENSP00000307887:G312S;ENSP00000344998:G211S;ENSP00000399229:G312S	ENSP00000307887:G312S	G	-	1	0	MXRA8	1279940	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.171000	0.09883	-0.776000	0.04578	0.298000	0.19748	GGC	.		0.761	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		T	1290077	C	T	1290077	3	4	31	1	0	0	0	0	1	0	0	0	10043	652	23	1	418	1	MXRA8	1	1290077	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	172957	1290077	247960544	2	5554											
CCNL2	81669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1334033	1334033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgctggaacaacacctGcccggtagccatggccacct	10	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1334033G>A	ENST00000400809.3	-	2	312	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408918.4_Nonsense_Mutation_p.Q103*|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	103	Cyclin-like 1.				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)		AACAACACCTGCCCGGTAGCC	0.502																																					p.Q103X		.											.	CCNL2-70	0			c.C307T						.						98	107	104					1																	1334033		2203	4297	6500	SO:0001587	stop_gained	81669	exon2			ACACCTGCCCGGT	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.307C>T	1.37:g.1334033G>A	ENSP00000383611:p.Gln103*	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	245	124	NM_030937	0	0	0	0	0	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Nonsense_Mutation	SNP	ENST00000400809.3	37	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368694	0.97511	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	.	.	.	5.05	4.14	0.48551	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.5714	0.56339	0.0809:0.0:0.9191:0.0	.	.	.	.	X	103	.	ENSP00000383611:Q103X	Q	-	1	0	CCNL2	1323896	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.433000	0.97501	1.142000	0.42291	-0.140000	0.14226	CAG	.		0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		A	1334033	G	A	1334033	4	1	31	1	0	0	0	0	0	1	0	0	2939	1328	46	3	1321	3	CCNL2	1	1334033	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	43956	1334033	247916588	3	5555											
GNB1	2782	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1747196	1747196	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgcccacgcctaccTggagtctgtgccccagtgca	10	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1747196T>G	ENST00000378609.4	-	5	533	c.202A>C	c.(202-204)Agg>Cgg	p.R68R		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	68					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CACGCCTACCTGGAGTCTGTG	0.562																																					p.R68R		.											.	GNB1-227	0			c.A202C						.						127	93	104					1																	1747196		2203	4300	6503	SO:0001630	splice_region_variant	2782	exon5			CCTACCTGGAGTC	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.203+1A>C	1.37:g.1747196T>G		Somatic	115	1		WXS	Illumina GAIIx	Phase_I	176	88	NM_002074	0	0	0	0	0	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	CCDS34.1																																																																																			.		0.562	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	Silent	G	1747196	T	G	1747196	5	3	31	1	0	0	0	0	0	0	1	0	6541	1594	55	5	848	5	GNB1	1	1747196	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	413163	1747196	247503425	4	5556											
PANK4	55229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	2440355	2440355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagccgctcggccagccaCgcgttcttgatgacggccag	12	17	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2440355C>A	ENST00000378466.3	-	19	2265	c.2253G>T	c.(2251-2253)gcG>gcT	p.A751A	PANK4_ENST00000435556.3_Silent_p.A712A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	751					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGGCCAGCCACGCGTTCTTGA	0.647																																					p.A751A		.											.	PANK4-158	0			c.G2253T						.						28	29	28					1																	2440355		2192	4295	6487	SO:0001819	synonymous_variant	55229	exon19			CAGCCACGCGTTC	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2253G>T	1.37:g.2440355C>A		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	220	104	NM_018216	0	0	0	0	0	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	CCDS42.1																																																																																			.		0.647	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			A	2440355	C	A	2440355	2	1	31	1	0	0	0	0	0	0	0	1	11458	523	19	2		2	PANK4	1	2440355	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	693159	2440355	246810266	5	5557											
PANK4	55229	broad.mit.edu;bcgsc.ca	37	chr1	2445885	2445885	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccacagagtctggctggctCgccactgcgcgcttcactac	10	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2445885C>G	ENST00000378466.3	-	11	1407	c.1395G>C	c.(1393-1395)gcG>gcC	p.A465A	PANK4_ENST00000435556.3_Silent_p.A426A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	465					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGGCTGGCTCGCCACTGCGC	0.627																																					p.A465A		.											.	PANK4-158	0			c.G1395C						.						40	41	41					1																	2445885		2202	4297	6499	SO:0001819	synonymous_variant	55229	exon11			CTGGCTCGCCACT	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1395G>C	1.37:g.2445885C>G		Somatic	87	2		WXS	Illumina GAIIx	Phase_I	90	29	NM_018216	0	0	0	0	0	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	CCDS42.1																																																																																			.		0.627	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			G	2445885	C	G	2445885	2	3	31	1	0	0	0	0	0	0	0	1	11458	871	31	2		2	PANK4	1	2445885	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5530	2445885	246804736	6	5558											
PRDM16	63976	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	3328612	3328612	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acggggaccgacctggacacGaccacggggacgggctcgga	17	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3328612G>C	ENST00000270722.5	+	9	1900	c.1851G>C	c.(1849-1851)acG>acC	p.T617T	PRDM16_ENST00000378398.3_Silent_p.T618T|PRDM16_ENST00000378391.2_Silent_p.T617T|PRDM16_ENST00000442529.2_Silent_p.T617T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.T618T|PRDM16_ENST00000514189.1_Silent_p.T618T|PRDM16_ENST00000441472.2_Silent_p.T617T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	617					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACACGACCACGGGGA	0.642			T	EVI1	"MDS, AML"																																p.T617T		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16-660	0			c.G1851C						.						74	87	83					1																	3328612		2183	4262	6445	SO:0001819	synonymous_variant	63976	exon9			GGACACGACCACG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1851G>C	1.37:g.3328612G>C		Somatic	174	1		WXS	Illumina GAIIx	Phase_I	298	62	NM_022114	0	0	0	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			.		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		C	3328612	G	C	3328612	2	2	31	1	0	0	0	0	0	0	0	1	12499	1045	37	2		2	PRDM16	1	3328612	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	882727	3328612	245922009	7	5559											
TP73	7161	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	3639930	3639930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggacagtctgctcCagccagccacctcatccgcg	10	19	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3639930C>T	ENST00000378295.4	+	6	784	c.629C>T	c.(628-630)cCa>cTa	p.P210L	TP73_ENST00000378280.1_Missense_Mutation_p.P161L|TP73_ENST00000354437.4_Missense_Mutation_p.P210L|TP73_ENST00000604074.1_Missense_Mutation_p.P210L|TP73_ENST00000357733.3_Missense_Mutation_p.P210L|TP73_ENST00000604479.1_Missense_Mutation_p.P210L|TP73_ENST00000378290.4_Missense_Mutation_p.P139L|TP73_ENST00000378285.1_Missense_Mutation_p.P161L|TP73_ENST00000378288.4_Missense_Mutation_p.P161L|TP73_ENST00000603362.1_Missense_Mutation_p.P210L|TP73_ENST00000346387.4_Missense_Mutation_p.P210L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	210	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGTCTGCTCCAGCCAGCCAC	0.632																																					p.P210L		.											.	TP73-415	0			c.C629T						.						73	56	62					1																	3639930		2199	4290	6489	SO:0001583	missense	7161	exon6			CTGCTCCAGCCAG	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.629C>T	1.37:g.3639930C>T	ENSP00000367545:p.Pro210Leu	Somatic	597	2		WXS	Illumina GAIIx	Phase_I	731	161	NM_005427	0	0	0	0	0	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431202	0.83776	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	3.56	3.56	0.40772	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.109689	0.64402	D	0.000006	D	0.99619	0.9861	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.99;0.994;0.999;0.958;0.997	P;P;P;P;P;D	0.62955	0.725;0.796;0.754;0.841;0.744;0.909	D	0.97357	0.9967	10	0.72032	D	0.01	-14.1506	13.4591	0.61217	0.0:1.0:0.0:0.0	.	161;161;161;161;210;210	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	210;210;210;210;161;161;161;139	ENSP00000367545:P210L;ENSP00000346423:P210L;ENSP00000350366:P210L;ENSP00000340740:P210L;ENSP00000367537:P161L;ENSP00000367534:P161L;ENSP00000367529:P161L;ENSP00000367539:P139L	ENSP00000340740:P210L	P	+	2	0	TP73	3629790	1.000000	0.71417	0.971000	0.41717	0.770000	0.43624	7.625000	0.83145	1.955000	0.56771	0.486000	0.48141	CCA	.		0.632	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		T	3639930	C	T	3639930	3	4	31	1	0	0	0	0	1	0	0	0	16441	594	21	3	690	3	TP73	1	3639930	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	311318	3639930	245610691	8	5560											
CCDC27	148870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	3669101	3669101	+	Frame_Shift_Del	DEL	G	G	-													caggctgaagagagatccacGggaaaagccgggcctgtcct					rs535544341		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3669101delG	ENST00000294600.2	+	1	140	c.56delG	c.(55-57)cggfs	p.R19fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	19										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGAGATCCACGGGAAAAGCCG	0.572																																					p.R19fs		.											.	CCDC27-91	0			c.56delG						.						111	101	104					1																	3669101		2203	4300	6503	SO:0001589	frameshift_variant	148870	exon1			ATCCACGGGAAAA		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.56delG	1.37:g.3669101delG	ENSP00000294600:p.Arg19fs	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	176	88	NM_152492	0	0	0	0	0	Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	CCDS50.1																																																																																			.		0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		-	3669101	G	-	3669101	7	5	31	1	0	1	0	1	0	0	0	0	2808	1116	39	0	58	0	CCDC27	1	3669101	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	29171	3669101	245581520	9	5561											
CHD5	26038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	6196856	6196856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccactcgatggagcccaGgatggcctggtcaatggtga	15	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:6196856G>A	ENST00000262450.3	-	16	2605	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	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)		ATGGAGCCCAGGATGGCCTGG	0.582																																					p.L836L		.											.	CHD5-719	0			c.C2506T						.						67	67	67					1																	6196856		2203	4300	6503	SO:0001819	synonymous_variant	26038	exon16			AGCCCAGGATGGC	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.2506C>T	1.37:g.6196856G>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	158	37	NM_015557	0	0	0	0	0	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																			.		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6196856	G	A	6196856	2	1	31	1	0	0	0	0	0	0	0	1	3335	991	35	3		3	CHD5	1	6196856	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2527755	6196856	243053765	10	5562											
CAMTA1	23261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	7723792	7723792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatggggagcttgtcccaGagcgccacggtgttcatgtc	15	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:7723792G>T	ENST00000303635.7	+	9	1392	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q395H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	395					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)		GCTTGTCCCAGAGCGCCACGG	0.642			T	WWTR1	epitheliod hemangioendothelioma																																p.Q395H		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1-520	0			c.G1185T						.						94	91	92					1																	7723792		2203	4300	6503	SO:0001583	missense	23261	exon9			GTCCCAGAGCGCC	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.1185G>T	1.37:g.7723792G>T	ENSP00000306522:p.Gln395His	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	227	118	NM_015215	0	0	0	0	0	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265481	0.40095	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.51817	0.69;0.69	5.01	0.789	0.18607	.	0.130324	0.53938	D	0.000059	T	0.58366	0.2117	L	0.53249	1.67	0.41410	D	0.987735	D	0.67145	0.996	D	0.75484	0.986	T	0.56245	-0.8011	10	0.72032	D	0.01	-12.8665	9.5563	0.39341	0.3827:0.0:0.6173:0.0	.	395	Q9Y6Y1	CMTA1_HUMAN	H	395	ENSP00000306522:Q395H;ENSP00000402561:Q395H	ENSP00000306522:Q395H	Q	+	3	2	CAMTA1	7646379	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	2.608000	0.46308	-0.122000	0.11766	-0.400000	0.06385	CAG	.		0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7723792	G	T	7723792	3	4	31	1	0	0	0	0	1	0	0	0	2620	933	33	3	1219	3	CAMTA1	1	7723792	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1526936	7723792	241526829	11	5563											
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	7869982	7869982	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcgtgtccagcggctaCgggagcctggggagcagcgg	20	10	0	1	rs140055805	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:7869982C>A	ENST00000361923.2	+	11	1444	c.1269C>A	c.(1267-1269)taC>taA	p.Y423*	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Nonsense_Mutation_p.Y424*	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	423					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCGGCTACGGGAGCCTGG	0.617																																					p.Y423X		.											.	PER3-93	0			c.C1269A						.						39	39	39					1																	7869982		2202	4300	6502	SO:0001587	stop_gained	8863	exon11			CGGCTACGGGAGC	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.1269C>A	1.37:g.7869982C>A	ENSP00000355031:p.Tyr423*	Somatic	215	1		WXS	Illumina GAIIx	Phase_I	297	143	NM_016831	0	0	0	0	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621633	0.66787	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	.	.	.	4.34	-6.3	0.02007	.	0.068966	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0747	0.53636	0.0:0.4378:0.0:0.5622	.	.	.	.	X	424;423	.	ENSP00000355031:Y423X	Y	+	3	2	PER3	7792569	0.103000	0.21917	0.033000	0.17914	0.107000	0.19398	-0.833000	0.04396	-1.348000	0.02205	-1.193000	0.01689	TAC	C|1.000;T|0.000		0.617	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		A	7869982	C	A	7869982	4	1	31	1	0	0	0	0	0	1	0	0	11770	547	19	2	1311	2	PER3	1	7869982	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	146190	7869982	241380639	12	5564											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003132	0	0	0	0	0	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	31	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3249917	11119899	238130722	13	5565											
VPS13D	55187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12339596	12339596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccattcagtttaaactGgagaagatccctatagagag	8	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12339596G>A	ENST00000358136.3	+	20	4621	c.4491G>A	c.(4489-4491)ctG>ctA	p.L1497L	VPS13D_ENST00000356315.4_Silent_p.L1497L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTTTAAACTGGAGAAGATCC	0.368																																					p.L1497L		.											.	VPS13D-95	0			c.G4491A						.						108	109	109					1																	12339596		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon20			TAAACTGGAGAAG	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4491G>A	1.37:g.12339596G>A		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	169	49	NM_015378	0	0	0	0	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.161085	0.21538	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.02	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.38	0.38306	0.1273:0.0:0.7543:0.1184	.	.	.	.	X	320	.	.	W	+	2	0	VPS13D	12262183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.563000	0.49615	0.650000	0.86243	TGG	.		0.368	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		A	12339596	G	A	12339596	2	1	31	1	0	0	0	0	0	0	0	1	17241	1335	47	3		3	VPS13D	1	12339596	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1219697	12339596	236911025	14	5566											
VPS13D	55187	broad.mit.edu	37	chr1	12476832	12476832	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaaatatggaaatgtcggGggcctcatcagaaatgttac	10	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12476832G>T	ENST00000358136.3	+	65	12415	c.12285G>T	c.(12283-12285)ggG>ggT	p.G4095G	VPS13D_ENST00000356315.4_Silent_p.G4070G|VPS13D_ENST00000543766.1_Silent_p.G93G|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAATGTCGGGGGCCTCATCA	0.428																																					p.G4095G		.											.	VPS13D-95	0			c.G12285T						.						115	121	119					1																	12476832		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon65			TGTCGGGGGCCTC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12285G>T	1.37:g.12476832G>T		Somatic	46	2		WXS	Illumina GAIIx	Phase_I	68	17	NM_015378	0	0	0	0	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.774	1.173372	0.21704	.	.	ENSG00000048707	ENST00000011700	T	0.51325	0.71	5.69	-0.0545	0.13813	.	0.045722	0.85682	D	0.000000	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	7	0.56958	D	0.05	.	4.7464	0.13040	0.4378:0.0:0.3436:0.2186	.	.	.	.	V	2917	ENSP00000011700:G2917V	ENSP00000011700:G2917V	G	+	2	0	VPS13D	12399419	0.256000	0.24012	0.993000	0.49108	0.984000	0.73092	-0.401000	0.07232	-0.053000	0.13289	0.655000	0.94253	GGG	.		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12476832	G	T	12476832	2	4	31	1	0	0	0	0	0	0	0	1	17241	1219	43	3		3	VPS13D	1	12476832	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	137236	12476832	236773789	15	5567											
PRAMEF1	65121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12854331	12854331	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgctgtagtaagctGgtcaattatctaacgccgat	9	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12854331G>C	ENST00000332296.7	+	3	658	c.555G>C	c.(553-555)ctG>ctC	p.L185L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	185					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGTAAGCTGGTCAATTATC	0.418																																					p.L185L		.											.	PRAMEF1-22	0			c.G555C						.						174	187	183					1																	12854331		2203	4297	6500	SO:0001819	synonymous_variant	65121	exon3			TAAGCTGGTCAAT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.555G>C	1.37:g.12854331G>C		Somatic	261	0		WXS	Illumina GAIIx	Phase_I	289	134	NM_023013	0	0	0	0	0	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			.		0.418	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		C	12854331	G	C	12854331	2	2	31	1	0	0	0	0	0	0	0	1	12467	1335	47	3		3	PRAMEF1	1	12854331	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	377499	12854331	236396290	16	5568											
PRAMEF11	440560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12887562	12887562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgccgttctctcatccttgGacagtcctgcactggtgttt	9	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12887562G>T	ENST00000535591.1	-	3	490	c.295C>A	c.(295-297)Cca>Aca	p.P99T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	99					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(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTCATCCTTGGACAGTCCTGC	0.498																																					p.P99T		.											.	.	0			c.C295A						.																																			SO:0001583	missense	440560	exon3			TCCTTGGACAGTC	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.295C>A	1.37:g.12887562G>T	ENSP00000439551:p.Pro99Thr	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	72	21	NM_001146344	0	0	0	0	0		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.417	0.845526	0.16963	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.20069	2.1;2.1	0.907	-1.81	0.07882	.	2.845270	0.01311	N	0.010601	T	0.44829	0.1312	M	0.85542	2.76	0.09310	N	1	D	0.76494	0.999	D	0.67725	0.953	T	0.34527	-0.9825	10	0.51188	T	0.08	.	2.29	0.04136	0.2861:0.333:0.381:0.0	.	99	O60813	PRA11_HUMAN	T	99;140;99	ENSP00000439551:P99T;ENSP00000391839:P99T	ENSP00000328783:P140T	P	-	1	0	PRAMEF11	12810149	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.080000	0.11339	-0.800000	0.04433	0.400000	0.26472	CCA	.		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		T	12887562	G	T	12887562	3	4	31	1	0	0	0	0	1	0	0	0	12469	1174	41	3	1023	3	PRAMEF11	1	12887562	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	33231	12887562	236363059	17	5569											
PRAMEF2	65122	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	12918933	12918933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagagaccaggccttGtccatctctgccatggagga	12	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12918933G>C	ENST00000240189.2	+	2	156	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	23					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGCCTTGTCCATCTCTG	0.582																																					p.L23F		.											.	PRAMEF2-68	0			c.G69C						.						90	100	97					1																	12918933		2201	4294	6495	SO:0001583	missense	65122	exon2			GGCCTTGTCCATC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.69G>C	1.37:g.12918933G>C	ENSP00000240189:p.Leu23Phe	Somatic	165	1		WXS	Illumina GAIIx	Phase_I	152	90	NM_023014	0	0	0	0	0		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	g	10.84	1.464597	0.26335	.	.	ENSG00000120952	ENST00000240189	T	0.10477	2.87	0.842	0.842	0.18927	.	0.943105	0.08778	N	0.895189	T	0.35885	0.0947	M	0.91818	3.245	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.08229	-1.0732	10	0.87932	D	0	.	5.0452	0.14480	0.0:0.0:1.0:0.0	.	23	O60811	PRAM2_HUMAN	F	23	ENSP00000240189:L23F	ENSP00000240189:L23F	L	+	3	2	PRAMEF2	12841520	0.080000	0.21391	0.008000	0.14137	0.002000	0.02628	1.792000	0.38754	0.759000	0.33084	0.194000	0.17425	TTG	.		0.582	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		C	12918933	G	C	12918933	3	2	31	1	0	0	0	0	1	0	0	0	12477	1368	48	3	71	3	PRAMEF2	1	12918933	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	31371	12918933	236331688	18	5570											
PRAMEF10	343071	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	12954838	12954838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggcagaggtctatgaacaCcttcaagggctggtgctctc	12	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12954838C>A	ENST00000235347.4	-	3	524	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	149					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGAACACCTTCAAGGGC	0.542																																					p.V149L		.											.	PRAMEF10-90	0			c.G445T						.						104	106	105					1																	12954838		1970	3969	5939	SO:0001583	missense	343071	exon3			TGAACACCTTCAA	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.445G>T	1.37:g.12954838C>A	ENSP00000235347:p.Val149Leu	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	143	69	NM_001039361	0	0	0	0	0	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193733	0.38707	.	.	ENSG00000187545	ENST00000235347	T	0.19105	2.17	1.86	1.86	0.25419	.	0.269718	0.28284	N	0.015907	T	0.22704	0.0548	M	0.70275	2.135	0.09310	N	1	P	0.40970	0.734	B	0.41571	0.36	T	0.07520	-1.0768	10	0.41790	T	0.15	.	7.2617	0.26207	0.0:1.0:0.0:0.0	.	149	O60809	PRA10_HUMAN	L	149	ENSP00000235347:V149L	ENSP00000235347:V149L	V	-	1	0	PRAMEF10	12877425	0.001000	0.12720	0.129000	0.21949	0.157000	0.22087	-0.106000	0.10890	1.362000	0.46000	0.194000	0.17425	GTG	.		0.542	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		A	12954838	C	A	12954838	3	1	31	1	0	0	0	0	1	0	0	0	12468	507	18	3	987	3	PRAMEF10	1	12954838	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35905	12954838	236295783	19	5571											
CROCC	9696	hgsc.bcm.edu	37	chr1	17265519	17265519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggaccccgtccccaccgcGgcgctcctcgcccggccgag	13	22	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:17265519G>T	ENST00000375541.5	+	12	1559	c.1490G>T	c.(1489-1491)cGg>cTg	p.R497L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCCCCACCGCGGCGCTCCTCG	0.746																																					p.R497L		.											.	CROCC-137	0			c.G1490T						.																																			SO:0001583	missense	9696	exon12			CACCGCGGCGCTC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1490G>T	1.37:g.17265519G>T	ENSP00000364691:p.Arg497Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	20	12	NM_014675	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530970	0.64972	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11712	2.75	5.39	5.39	0.77823	.	.	.	.	.	T	0.29458	0.0734	L	0.53249	1.67	0.43628	D	0.996017	B;D;D	0.89917	0.451;1.0;1.0	B;D;D	0.87578	0.169;0.979;0.998	T	0.00211	-1.1915	9	0.33940	T	0.23	.	18.0808	0.89440	0.0:0.0:1.0:0.0	.	360;360;497	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	L	497;378	ENSP00000364691:R497L	ENSP00000364691:R497L	R	+	2	0	CROCC	17138106	0.767000	0.28508	0.914000	0.36105	0.309000	0.27889	1.312000	0.33574	2.702000	0.92279	0.561000	0.74099	CGG	.		0.746	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17265519	G	T	17265519	3	4	31	1	0	0	0	0	1	0	0	0	3900	1116	39	2	1536	2	CROCC	1	17265519	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4310681	17265519	231985102	20	5572											
ATP13A2	23400	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	17313430	17313430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtctggtgcggccacTgtcctgttcagaggcacgaa	14	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:17313430T>C	ENST00000326735.8	-	27	3138	c.3105A>G	c.(3103-3105)acA>acG	p.T1035T	ATP13A2_ENST00000341676.5_Silent_p.T991T|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.T1030T			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1035					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)		GTGCGGCCACTGTCCTGTTCA	0.627																																					p.T1035T		.											.	ATP13A2-93	0			c.A3105G						.						87	78	81					1																	17313430		2203	4300	6503	SO:0001819	synonymous_variant	23400	exon27			GGCCACTGTCCTG	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.3105A>G	1.37:g.17313430T>C		Somatic	72	1		WXS	Illumina GAIIx	Phase_I	159	75	NM_022089	0	0	0	0	0	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																			.		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		C	17313430	T	C	17313430	2	2	31	1	0	0	0	0	0	0	0	1	1125	1567	55	4		4	ATP13A2	1	17313430	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	47911	17313430	231937191	21	5573											
PAX7	5081	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	19018406	19018406	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagacatatacacccgcgagGagctggcgcagaggaccaag	13	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:19018406G>T	ENST00000375375.3	+	5	1343	c.745G>T	c.(745-747)Gag>Tag	p.E249*	PAX7_ENST00000420770.2_Nonsense_Mutation_p.E249*|PAX7_ENST00000400661.3_Nonsense_Mutation_p.E247*	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	249					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CACCCGCGAGGAGCTGGCGCA	0.602			T	FOXO1A	alveolar rhabdomyosarcoma																																p.E249X		.		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	PAX7-1630	0			c.G745T						.						42	38	39					1																	19018406		2202	4299	6501	SO:0001587	stop_gained	5081	exon5			CGCGAGGAGCTGG	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.745G>T	1.37:g.19018406G>T	ENSP00000364524:p.Glu249*	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	203	46	NM_002584	0	0	0	0	0	E9PFV9|Q0VA99|Q2PJS5	Nonsense_Mutation	SNP	ENST00000375375.3	37	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	38	7.014034	0.98002	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	.	.	.	4.85	4.85	0.62838	.	0.229716	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.519	0.84308	0.0:0.0:1.0:0.0	.	.	.	.	X	249;249;247	.	ENSP00000364524:E249X	E	+	1	0	PAX7	18890993	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.741000	0.98843	2.243000	0.73865	0.561000	0.74099	GAG	.		0.602	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		T	19018406	G	T	19018406	4	4	31	1	0	0	0	0	0	1	0	0	11523	1175	41	3	763	3	PAX7	1	19018406	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1704976	19018406	230232215	22	5574											
PLA2G5	5322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	20416346	20416346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgcaacattcgcacaCagtcctacaaatacagattc	7	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:20416346C>T	ENST00000375108.3	+	4	518	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	84					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CATTCGCACACAGTCCTACAA	0.582																																					p.Q84X		.											.	PLA2G5-515	0			c.C250T						.						114	93	100					1																	20416346		2203	4300	6503	SO:0001587	stop_gained	5322	exon4			CGCACACAGTCCT	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.250C>T	1.37:g.20416346C>T	ENSP00000364249:p.Gln84*	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	181	48	NM_000929	0	0	0	0	0	Q8N435	Nonsense_Mutation	SNP	ENST00000375108.3	37	CCDS202.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292625	0.59976	.	.	ENSG00000127472	ENST00000375108	.	.	.	5.93	3.95	0.45737	.	0.354031	0.24628	N	0.036902	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-26.5662	12.4303	0.55571	0.0:0.6756:0.3244:0.0	.	.	.	.	X	84	.	ENSP00000364249:Q84X	Q	+	1	0	PLA2G5	20288933	0.042000	0.20092	0.754000	0.31244	0.215000	0.24574	0.729000	0.26028	1.509000	0.48786	-0.176000	0.13171	CAG	.		0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		T	20416346	C	T	20416346	4	4	31	1	0	0	0	0	0	1	0	0	12046	479	17	3	260	3	PLA2G5	1	20416346	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1397940	20416346	228834275	23	5575											
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	22179236	22179236	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaggactgaggcctcTagggggccggaggtgcccac	17	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:22179236T>A	ENST00000374695.3	-	52	6760	c.6681A>T	c.(6679-6681)ctA>ctT	p.L2227L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2227	Ig-like C2-type 7.				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)	CTGAGGCCTCTAGGGGGCCGG	0.647																																					p.L2227L		.											.	HSPG2-141	0			c.A6681T						.						68	75	73					1																	22179236		2203	4300	6503	SO:0001819	synonymous_variant	3339	exon52			GGCCTCTAGGGGG	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.6681A>T	1.37:g.22179236T>A		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	171	43	NM_005529	0	0	0	0	0	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			.		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22179236	T	A	22179236	2	1	31	1	0	0	0	0	0	0	0	1	7457	1509	53	5		5	HSPG2	1	22179236	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1762890	22179236	227071385	24	5576											
CNKSR1	10256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	26509747	26509747	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaagtggacacccaGgtgagagccccacacccttc	10	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:26509747G>T	ENST00000374253.5	+	7	723	c.684G>T	c.(682-684)caG>caT	p.Q228H	CNKSR1_ENST00000361530.6_Splice_Site_p.Q228H|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	228	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACACCCAGGTGAGAGCCC	0.627																																					p.Q228H	NSCLC(180;1396 2109 28270 30756 34275)	.											.	CNKSR1-846	0			c.G684T						.						140	150	147					1																	26509747		2203	4300	6503	SO:0001630	splice_region_variant	10256	exon7			CACCCAGGTGAGA	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.684+1G>T	1.37:g.26509747G>T		Somatic	277	0		WXS	Illumina GAIIx	Phase_I	317	80	NM_006314	0	0	0	0	0	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938397	0.73557	.	.	ENSG00000142675	ENST00000361530;ENST00000374253	T;T	0.13778	2.56;2.56	5.37	5.37	0.77165	PDZ/DHR/GLGF (1);	0.059185	0.64402	D	0.000004	T	0.25044	0.0608	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.57548	0.77;0.823	T	0.00258	-1.1871	10	0.42905	T	0.14	-18.8248	15.8421	0.78857	0.0:0.0:1.0:0.0	.	228;228	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	228	ENSP00000354609:Q228H;ENSP00000363371:Q228H	ENSP00000354609:Q228H	Q	+	3	2	CNKSR1	26382334	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.485000	0.45250	2.505000	0.84491	0.655000	0.94253	CAG	.		0.627	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	Missense_Mutation	T	26509747	G	T	26509747	5	4	31	1	0	0	0	0	0	0	1	0	3613	1014	35	3	710	3	CNKSR1	1	26509747	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4330511	26509747	222740874	25	5577											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000374162.2_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	31	1	0	0	0	0	0	0	0	1	13695	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	346715	26856462	222394159	26	5578											
WDTC1	23038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27627876	27627876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcaaagggaaatttccGgagcaggcccacagcagcgc	12	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:27627876G>A	ENST00000319394.3	+	13	1927	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	WDTC1_ENST00000361771.3_Silent_p.P463P	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	464					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)		GGAAATTTCCGGAGCAGGCCC	0.582											OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P464P		.											.	WDTC1-91	0			c.G1392A						.						66	65	65					1																	27627876		2203	4300	6503	SO:0001819	synonymous_variant	23038	exon13			ATTTCCGGAGCAG	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.1392G>A	1.37:g.27627876G>A		Somatic	119	0	795	WXS	Illumina GAIIx	Phase_I	119	24	NM_001276252	0	0	0	0	0	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37																																																																																				.		0.582	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		A	27627876	G	A	27627876	2	1	31	1	0	0	0	0	0	0	0	1	17391	1103	39	1		1	WDTC1	1	27627876	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	771414	27627876	221622745	27	5579											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29189702	29189702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcggccgcccagacccCagcagcttcagccgcgcccg	11	22	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29189702C>A	ENST00000234961.2	+	3	1268	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	342					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)	GCCCAGACCCCAGCAGCTTCA	0.711																																					p.P342P		.											.	OPRD1-69	0			c.C1026A						.						8	9	9					1																	29189702		2185	4282	6467	SO:0001819	synonymous_variant	4985	exon3			AGACCCCAGCAGC	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.1026C>A	1.37:g.29189702C>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	33	10	NM_000911	0	0	0	0	0	B5B0B8	Silent	SNP	ENST00000234961.2	37	CCDS329.1																																																																																			.		0.711	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29189702	C	A	29189702	2	1	31	1	0	0	0	0	0	0	0	1	10923	581	21	3		3	OPRD1	1	29189702	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1561826	29189702	220060919	28	5580											
MECR	51102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29520573	29520573	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgaagatatgaagggcttCatggaggcttccaaggcaga	13	6	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29520573C>A	ENST00000263702.6	-	10	1108	c.1083G>T	c.(1081-1083)atG>atT	p.M361I	MECR_ENST00000373791.3_Missense_Mutation_p.M285I			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	361					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGAAGGGCTTCATGGAGGCTT	0.592																																					p.M361I		.											.	MECR-91	0			c.G1083T						.						105	109	107					1																	29520573		2203	4300	6503	SO:0001583	missense	51102	exon10			GGGCTTCATGGAG		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.1083G>T	1.37:g.29520573C>A	ENSP00000263702:p.Met361Ile	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	102	29	NM_016011	0	0	0	0	0	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739576	0.49045	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.03468	3.92;4.0	5.61	5.61	0.85477	.	0.383925	0.34156	N	0.004209	T	0.08891	0.0220	M	0.80616	2.505	0.34843	D	0.740837	B	0.12630	0.006	B	0.08055	0.003	T	0.03514	-1.1029	10	0.39692	T	0.17	.	17.1336	0.86733	0.0:1.0:0.0:0.0	.	361	Q9BV79	MECR_HUMAN	I	285;361	ENSP00000362896:M285I;ENSP00000263702:M361I	ENSP00000263702:M361I	M	-	3	0	MECR	29393160	1.000000	0.71417	0.730000	0.30809	0.993000	0.82548	3.051000	0.49885	2.653000	0.90120	0.655000	0.94253	ATG	.		0.592	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		A	29520573	C	A	29520573	3	1	31	1	0	0	0	0	1	0	0	0	9462	826	29	3	42	3	MECR	1	29520573	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	330871	29520573	219730048	29	5581											
PTPRU	10076	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29644272	29644272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtagacgctgaactcgGtcaccccgccgctggacgtg	12	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29644272G>T	ENST00000345512.3	+	26	3685	c.3556G>T	c.(3556-3558)Gtc>Ttc	p.V1186F	PTPRU_ENST00000323874.8_Missense_Mutation_p.V1182F|PTPRU_ENST00000428026.2_Missense_Mutation_p.V1173F|PTPRU_ENST00000356870.3_Missense_Mutation_p.V1182F|PTPRU_ENST00000460170.2_Missense_Mutation_p.V1182F|PTPRU_ENST00000373779.3_Missense_Mutation_p.V1176F	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1186	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTGAACTCGGTCACCCCGCC	0.657																																					p.V1186F		.											.	PTPRU-291	0			c.G3556T						.						70	57	61					1																	29644272		2203	4300	6503	SO:0001583	missense	10076	exon26			AACTCGGTCACCC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3556G>T	1.37:g.29644272G>T	ENSP00000334941:p.Val1186Phe	Somatic	35	1		WXS	Illumina GAIIx	Phase_I	108	32	NM_005704	0	0	0	0	0	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055453	0.93793	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000001	T	0.30479	0.0766	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.62365	0.991;0.991;0.991;0.985;0.985	P;P;P;P;P	0.60789	0.879;0.879;0.879;0.759;0.776	T	0.00899	-1.1522	9	.	.	.	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	1173;1182;1176;1182;1186	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	F	1186;1176;1182;1182;1173;1182	ENSP00000334941:V1186F;ENSP00000362884:V1176F;ENSP00000349333:V1182F;ENSP00000314987:V1182F;ENSP00000392332:V1173F;ENSP00000432906:V1182F	.	V	+	1	0	PTPRU	29516859	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.648000	0.98483	2.546000	0.85860	0.655000	0.94253	GTC	.		0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29644272	G	T	29644272	3	4	31	1	0	0	0	0	1	0	0	0	12858	1261	44	3	3680	3	PTPRU	1	29644272	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	123699	29644272	219606349	30	5582											
PUM1	9698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	31447604	31447604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagactggcagggtagactCcccagggagtaactccataa	11	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:31447604C>A	ENST00000257075.5	-	10	1493	c.1400G>T	c.(1399-1401)gGa>gTa	p.G467V	PUM1_ENST00000440538.2_Missense_Mutation_p.G468V|PUM1_ENST00000423018.2_Missense_Mutation_p.G371V|PUM1_ENST00000373742.2_Missense_Mutation_p.G408V|PUM1_ENST00000373741.4_Missense_Mutation_p.G503V|PUM1_ENST00000424085.2_Missense_Mutation_p.G225V|PUM1_ENST00000373747.3_Missense_Mutation_p.G468V|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000426105.2_Missense_Mutation_p.G467V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	467	Ala-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)		AGGGTAGACTCCCCAGGGAGT	0.512																																					p.G467V		.											.	PUM1-92	0			c.G1400T						.						47	47	47					1																	31447604		2203	4300	6503	SO:0001583	missense	9698	exon10			TAGACTCCCCAGG	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.1400G>T	1.37:g.31447604C>A	ENSP00000257075:p.Gly467Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	116	46	NM_014676	0	0	0	0	0	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301757	0.95601	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.29917	1.79;1.55;1.8;1.79;1.6;1.76;1.77;1.59	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.68593	2.085	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;0.996;1.0;0.998;1.0;1.0;1.0;1.0	T	0.55780	-0.8087	10	0.87932	D	0	-6.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	408;371;503;468;467;467;468;467	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	225;467;468;205;467;468;503;371;408;467	ENSP00000400141:G225V;ENSP00000257075:G467V;ENSP00000362852:G468V;ENSP00000391723:G467V;ENSP00000401777:G468V;ENSP00000362846:G503V;ENSP00000399440:G371V;ENSP00000362847:G408V	ENSP00000257075:G467V	G	-	2	0	PUM1	31220191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.746000	0.85057	2.937000	0.99478	0.650000	0.86243	GGA	.		0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			A	31447604	C	A	31447604	3	1	31	1	0	0	0	0	1	0	0	0	12870	855	30	3	2218	3	PUM1	1	31447604	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1803332	31447604	217803017	31	5583											
BAI2	576	bcgsc.ca	37	chr1	32196920	32196920	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgccctcagggccCacgaggcaggacttgggctc	15	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32196920C>A	ENST00000373658.3	-	29	4202	c.3861G>T	c.(3859-3861)gtG>gtT	p.V1287V	BAI2_ENST00000398538.1_Silent_p.V1275V|BAI2_ENST00000527361.1_Silent_p.V1254V|BAI2_ENST00000398547.1_Silent_p.V1220V|BAI2_ENST00000398556.3_Silent_p.V1202V|BAI2_ENST00000257070.4_Silent_p.V1254V|BAI2_ENST00000440175.2_Silent_p.V896V|BAI2_ENST00000373655.2_Silent_p.V1287V|BAI2_ENST00000398542.1_Silent_p.V1187V|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1287					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCTCAGGGCCCACGAGGCAGG	0.642																																					p.V1287V		.											.	BAI2-526	0			c.G3861T						.						33	27	29					1																	32196920		2203	4300	6503	SO:0001819	synonymous_variant	576	exon29			AGGGCCCACGAGG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3861G>T	1.37:g.32196920C>A		Somatic	309	4		WXS	Illumina GAIIx	Phase_I	406	210	NM_001703	0	0	0	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	CCDS346.2																																																																																			.		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32196920	C	A	32196920	2	1	31	1	0	0	0	0	0	0	0	1	1300	581	21	3		3	BAI2	1	32196920	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	749316	32196920	217053701	32	5584											
PTP4A2	8073	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32374453	32374453	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccttcgtttacatttccttCtactgaacacagcaatgccc	5	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32374453C>T	ENST00000602725.1	-	5	921	c.504G>A	c.(502-504)taG>taA	p.*168*	PTP4A2_ENST00000356536.3_3'UTR|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000457805.2_Silent_p.*137*|PTP4A2_ENST00000344035.6_Silent_p.*168*|PTP4A2_ENST00000470404.1_3'UTR			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	0					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACATTTCCTTCTACTGAACAC	0.428																																					p.X168X		.											.	PTP4A2-650	0			c.G504A						.						167	149	155					1																	32374453		2203	4300	6503	SO:0001819	synonymous_variant	8073	exon6			TTCCTTCTACTGA	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.504G>A	1.37:g.32374453C>T		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	92	41	NM_080391	0	0	0	0	0	A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Silent	SNP	ENST00000602725.1	37	CCDS348.1																																																																																			.		0.428	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		T	32374453	C	T	32374453	2	4	31	1	0	0	0	0	0	0	0	1	12814	924	32	3		3	PTP4A2	1	32374453	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	177533	32374453	216876168	33	5585											
LCK	3932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32741016	32741016	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcgaacagcctggagcccGaaccgtaagtggggacccgt	14	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32741016G>T	ENST00000336890.5	+	5	511	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	LCK_ENST00000333070.4_Nonsense_Mutation_p.E125*|LCK_ENST00000373564.3_Nonsense_Mutation_p.E183*	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CCTGGAGCCCGAACCGTAAGT	0.647			T	TRB@	T-ALL																																p.E125X		.		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	LCK-1378	0			c.G373T						.						44	41	42					1																	32741016		2203	4300	6503	SO:0001587	stop_gained	3932	exon5			GAGCCCGAACCGT	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.373G>T	1.37:g.32741016G>T	ENSP00000337825:p.Glu125*	Somatic	292	0		WXS	Illumina GAIIx	Phase_I	398	198	NM_005356	0	0	0	0	0	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Nonsense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	32	5.174824	0.94807	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.1445	0.89651	0.0:0.0:1.0:0.0	.	.	.	.	X	125;183;125;125;169;125;169;183	.	ENSP00000328213:E125X	E	+	1	0	LCK	32513603	1.000000	0.71417	0.996000	0.52242	0.742000	0.42306	7.992000	0.88273	2.662000	0.90505	0.555000	0.69702	GAA	.		0.647	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		T	32741016	G	T	32741016	4	4	31	1	0	0	0	0	0	1	0	0	8704	1059	37	2	387	2	LCK	1	32741016	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	366563	32741016	216509605	34	5586											
CSMD2	114784	ucsc.edu;bcgsc.ca	37	chr1	34006180	34006180	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcacaggtgaacacCgcgggcagggagagctggta	14	11	1	2	rs1532308	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34006180C>G	ENST00000373381.4	-	60	9752	c.9576G>C	c.(9574-9576)gcG>gcC	p.A3192A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3168	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGAACACCGCGGGCAGGG	0.577																																					p.A3048A		.											.	CSMD2-103	0			c.G9144C						.						109	93	99					1																	34006180		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon59			GAACACCGCGGGC	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.9576G>C	1.37:g.34006180C>G		Somatic	280	3		WXS	Illumina GAIIx	Phase_I	390	201	NM_052896	0	0	0	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																				C|0.991;T|0.009		0.577	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		G	34006180	C	G	34006180	2	3	31	1	0	0	0	0	0	0	0	1	3954	639	23	2		2	CSMD2	1	34006180	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1265164	34006180	215244441	35	5587											
HMGB4	127540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34329806	34329806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacgaacatgggaaaagaaaTccagctaaagcctaaggcaa	9	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34329806T>A	ENST00000522796.1	+	4	1919	c.14T>A	c.(13-15)aTc>aAc	p.I5N	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.I5N|HMGB4_ENST00000425537.1_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	5						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAAAAGAAATCCAGCTAAAG	0.418																																					p.I5N		.											.	HMGB4-90	0			c.T14A						.						79	80	79					1																	34329806		2203	4300	6503	SO:0001583	missense	127540	exon2			AAGAAATCCAGCT		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.14T>A	1.37:g.34329806T>A	ENSP00000430919:p.Ile5Asn	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	163	37	NM_145205	0	0	0	0	0	B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864278	0.32977	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.90732	-2.72;-2.72	5.41	-10.0	0.00425	.	1.033100	0.07708	N	0.941520	T	0.74733	0.3755	N	0.19112	0.55	0.09310	N	1	B	0.27625	0.183	B	0.19391	0.025	T	0.63422	-0.6641	10	0.66056	D	0.02	.	0.4462	0.00494	0.308:0.2721:0.2106:0.2093	.	5	B2R4X7	.	N	5	ENSP00000429214:I5N;ENSP00000430919:I5N	ENSP00000429214:I5N	I	+	2	0	HMGB4	34102393	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.506000	0.06359	-2.268000	0.00685	0.533000	0.62120	ATC	.		0.418	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		A	34329806	T	A	34329806	3	1	31	1	0	0	0	0	1	0	0	0	7255	1435	50	5	16	5	HMGB4	1	34329806	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	323626	34329806	214920815	36	5588											
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34662954	34662954	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctggaggtacccggcagctCtcccgaggggaccagagagc	16	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34662954C>A	ENST00000488417.1	+	2	569	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	150										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)				CCCGGCAGCTCTCCCGAGGGG	0.587																																					p.S150Y		.											.	C1orf94-90	0			c.C449A						.						34	37	36					1																	34662954		692	1591	2283	SO:0001583	missense	84970	exon2			GCAGCTCTCCCGA	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.449C>A	1.37:g.34662954C>A	ENSP00000435634:p.Ser150Tyr	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	100	20	NM_001134734	0	0	0	0	0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	5.707	0.314918	0.10789	.	.	ENSG00000142698	ENST00000488417	T	0.24538	1.85	5.17	-0.557	0.11800	.	.	.	.	.	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.37304	0.246	T	0.20739	-1.0266	9	0.59425	D	0.04	-24.6253	3.1117	0.06361	0.2862:0.3514:0.2791:0.0834	.	150	Q6P1W5	CA094_HUMAN	Y	150	ENSP00000435634:S150Y	ENSP00000435634:S150Y	S	+	2	0	C1orf94	34435541	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.059000	0.11731	-0.402000	0.07633	0.655000	0.94253	TCT	.		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		A	34662954	C	A	34662954	3	1	31	1	0	0	0	0	1	0	0	0	2078	913	32	3	455	3	C1orf94	1	34662954	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	333148	34662954	214587667	37	5589											
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34663403	34663403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgacctcctcctgcaCgtcctgacaagctccctgag	7	20	0	2	rs367889351	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34663403C>A	ENST00000488417.1	+	2	1018	c.898C>A	c.(898-900)Cgt>Agt	p.R300S	C1orf94_ENST00000373374.3_Missense_Mutation_p.R110S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	300										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)				TCCTCCTGCACGTCCTGACAA	0.607																																					p.R300S		.											.	C1orf94-90	0			c.C898A						.						59	53	55					1																	34663403		2203	4300	6503	SO:0001583	missense	84970	exon2			CCTGCACGTCCTG	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.898C>A	1.37:g.34663403C>A	ENSP00000435634:p.Arg300Ser	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	107	53	NM_001134734	0	0	0	0	0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939512	0.02322	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.21543	2.0;2.0	4.46	-2.65	0.06095	.	1.913230	0.02346	N	0.075366	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17077	-1.0381	10	0.32370	T	0.25	-25.7676	3.4467	0.07483	0.2715:0.2414:0.3995:0.0875	.	300	Q6P1W5	CA094_HUMAN	S	110;300	ENSP00000362472:R110S;ENSP00000435634:R300S	ENSP00000362472:R110S	R	+	1	0	C1orf94	34435990	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.455000	0.06762	-0.791000	0.04486	-0.310000	0.09108	CGT	.		0.607	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		A	34663403	C	A	34663403	3	1	31	1	0	0	0	0	1	0	0	0	2078	536	19	2	904	2	C1orf94	1	34663403	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	449	34663403	214587218	38	5590											
RSPO1	284654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	38078537	38078537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgctctccttcctggCcaggttcctgttggcattct	8	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:38078537C>T	ENST00000401069.1	-	7	1394	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	RSPO1_ENST00000401068.1_Missense_Mutation_p.A228T|RSPO1_ENST00000401071.2_Missense_Mutation_p.A165T|RSPO1_ENST00000401070.1_Missense_Mutation_p.A165T|RSPO1_ENST00000373059.1_Missense_Mutation_p.A201T|RSPO1_ENST00000356545.2_Missense_Mutation_p.A228T	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	228					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTTCCTGGCCAGGTTCCTG	0.602																																					p.A228T	GBM(122;680 2230 27822 42821)	.											.	RSPO1-22	0			c.G682A						.						65	72	69					1																	38078537		2098	4229	6327	SO:0001583	missense	284654	exon7			TCCTGGCCAGGTT	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.682G>A	1.37:g.38078537C>T	ENSP00000383847:p.Ala228Thr	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	95	27	NM_001242908	0	0	0	0	0	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695775	0.30052	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;D;T;D;T;T	0.86432	-0.96;-2.12;-0.96;-2.12;-0.96;-0.96	5.94	1.31	0.21738	.	1.064940	0.07055	N	0.832669	T	0.74612	0.3739	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.56153	-0.8026	10	0.15952	T	0.53	-2.3768	7.5121	0.27579	0.0:0.4695:0.0:0.5305	.	165;201;228	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	T	201;165;228;165;228;228	ENSP00000362150:A201T;ENSP00000383848:A165T;ENSP00000348944:A228T;ENSP00000383849:A165T;ENSP00000383847:A228T;ENSP00000383846:A228T	ENSP00000348944:A228T	A	-	1	0	RSPO1	37851124	0.001000	0.12720	0.012000	0.15200	0.675000	0.39556	-0.118000	0.10692	0.005000	0.14708	0.561000	0.74099	GCC	.		0.602	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		T	38078537	C	T	38078537	3	4	31	1	0	0	0	0	1	0	0	0	13754	739	26	3	113	3	RSPO1	1	38078537	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3415134	38078537	211172084	39	5591											
EPHA10	284656	hgsc.bcm.edu	37	chr1	38227086	38227086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caactggataccttcgcagaAgtcaccacgctcctggaatc	8	14	1	1	rs4653328	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:38227086A>T	ENST00000373048.4	-	3	840	c.841T>A	c.(841-843)Ttc>Atc	p.F281I	EPHA10_ENST00000427468.2_Missense_Mutation_p.F281I|EPHA10_ENST00000319637.6_Missense_Mutation_p.F281I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	281			F -> I (in dbSNP:rs4653328). {ECO:0000269|PubMed:17344846}.		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTCGCAGAAGTCACCACGC	0.667													T|||	1769	0.353235	0.4402	0.3012	5008	,	,		11536	0.4831		0.2833	False		,,,				2504	0.2106				p.F281I		.											.	EPHA10-1246	0			c.T841A						.	T	ILE/PHE,ILE/PHE	1706,2604		311,1084,760	59	63	62		841,841	-1.5	0.8	1	dbSNP_111	62	2269,6083		305,1659,2212	yes	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	21,21	616,2743,2972	TT,TA,AA		27.1671,39.5824,31.3931	benign,benign	281/1009,281/296	38227086	3975,8687	2155	4176	6331	SO:0001583	missense	284656	exon3			CGCAGAAGTCACC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.841T>A	1.37:g.38227086A>T	ENSP00000362139:p.Phe281Ile	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	16	10	NM_001099439	0	0	0	0	0	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	785	0.35943223443223443	208	0.42276422764227645	97	0.26795580110497236	252	0.4405594405594406	228	0.3007915567282322	T	7.996	0.754258	0.15778	0.395824	0.271671	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	D;D;T	0.97279	-4.32;-4.32;4.58	4.23	-1.55	0.08558	.	0.934531	0.08818	N	0.889212	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	P	0.999999624185	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.26121	-1.0112	9	0.25751	T	0.34	.	3.9977	0.09566	0.3304:0.2198:0.0:0.4498	rs4653328;rs52814760;rs4653328	281;281	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	I	281	ENSP00000397746:F281I;ENSP00000362139:F281I;ENSP00000316395:F281I	ENSP00000316395:F281I	F	-	1	0	EPHA10	37999673	0.003000	0.15002	0.803000	0.32268	0.397000	0.30659	-0.342000	0.07801	-0.327000	0.08551	-1.255000	0.01485	TTC	A|0.665;T|0.335		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227086	A	T	38227086	3	4	31	1	0	0	0	0	1	0	0	0	5182	72	3	5	2283	5	EPHA10	1	38227086	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	148549	38227086	211023535	40	5592											
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39549943	39549943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtcatgtcggagtgagcGgtcttgtcggagtgagcgat	18	7	2	2	rs372116509		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:39549943G>T	ENST00000372915.3	+	1	140	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MACF1_ENST00000545844.1_Missense_Mutation_p.R18L|MACF1_ENST00000567887.1_Missense_Mutation_p.R18L|MACF1_ENST00000361689.2_Missense_Mutation_p.R18L|MACF1_ENST00000484793.1_Missense_Mutation_p.R18L|MACF1_ENST00000317713.7_Missense_Mutation_p.R18L|MACF1_ENST00000539005.1_Missense_Mutation_p.R18L|MACF1_ENST00000602421.1_Missense_Mutation_p.R18L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R18Q(1)		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)			CGGAGTGAGCGGTCTTGTCGG	0.647																																					p.R18L		.											.	MACF1-165	1	Substitution - Missense(1)	large_intestine(1)	c.G53T						.						69	62	64					1																	39549943		2203	4300	6503	SO:0001583	missense	23499	exon3			GTGAGCGGTCTTG	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.53G>T	1.37:g.39549943G>T	ENSP00000362006:p.Arg18Leu	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	138	33	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.715195	0.68844	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.64991	-0.1;-0.08;-0.1;-0.13;0.06	5.35	5.35	0.76521	.	.	.	.	.	T	0.56761	0.2007	N	0.08118	0	0.80722	D	1	D	0.56035	0.974	P	0.55545	0.778	T	0.62445	-0.6853	9	0.41790	T	0.15	.	16.5556	0.84484	0.0:0.0:1.0:0.0	.	18	F8W8Q1	.	L	18;18;18;18;34;18;18	ENSP00000439537:R18L;ENSP00000362006:R18L;ENSP00000354573:R18L;ENSP00000313438:R18L;ENSP00000444364:R18L	ENSP00000313438:R18L	R	+	2	0	MACF1	39322530	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.948000	0.75965	2.500000	0.84329	0.655000	0.94253	CGG	.		0.647	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39549943	G	T	39549943	3	4	31	1	0	0	0	0	1	0	0	0	9180	1116	39	2	55	2	MACF1	1	39549943	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1322857	39549943	209700678	41	5593											
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39818684	39818684	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtggctttcagagtaaAgcagcaaaggaactggcaga	13	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:39818684A>T	ENST00000372915.3	+	43	11307	c.11220A>T	c.(11218-11220)aaA>aaT	p.K3740N	MACF1_ENST00000545844.1_Missense_Mutation_p.K1673N|MACF1_ENST00000567887.1_Missense_Mutation_p.K3772N|MACF1_ENST00000564288.1_Missense_Mutation_p.K3735N|MACF1_ENST00000361689.2_Missense_Mutation_p.K1673N|MACF1_ENST00000289893.4_Missense_Mutation_p.K2175N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.K1673N|MACF1_ENST00000539005.1_Missense_Mutation_p.K1673N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3740					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)			TTCAGAGTAAAGCAGCAAAGG	0.453																																					p.K1673N		.											.	MACF1-165	0			c.A5019T						.						72	62	65					1																	39818684		2203	4300	6503	SO:0001583	missense	23499	exon40			GAGTAAAGCAGCA	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.11220A>T	1.37:g.39818684A>T	ENSP00000362006:p.Lys3740Asn	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	64	29	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.032984|4.032984	0.75504|0.75504	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;D;T|.	0.88046|.	-0.05;-0.06;-0.05;-0.09;0.1;-2.33;1.03|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.63034|0.63034	0.2477|0.2477	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;B|.	0.76494|.	0.999;0.99;0.97;0.364|.	D;D;P;B|.	0.75020|.	0.985;0.923;0.839;0.17|.	T|T	0.62315|0.62315	-0.6880|-0.6880	10|5	0.42905|.	T|.	0.14|.	.|.	10.8439|10.8439	0.46733|0.46733	0.8592:0.0:0.0:0.1408|0.8592:0.0:0.0:0.1408	.|.	3740;1673;1673;1638|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	N|C	1673;3740;1673;1673;1673;1822;2175|807	ENSP00000439537:K1673N;ENSP00000362006:K3740N;ENSP00000354573:K1673N;ENSP00000313438:K1673N;ENSP00000444364:K1673N;ENSP00000437059:K1822N;ENSP00000289893:K2175N|.	ENSP00000289893:K2175N|.	K|S	+|+	3|1	2|0	MACF1|MACF1	39591271|39591271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.851000|2.851000	0.48302|0.48302	2.095000|2.095000	0.63458|0.63458	0.454000|0.454000	0.30748|0.30748	AAA|AGC	.		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39818684	A	T	39818684	3	4	31	1	0	0	0	0	1	0	0	0	9180	69	3	5	11324	5	MACF1	1	39818684	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	268741	39818684	209431937	42	5594											
HIVEP3	59269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	42045967	42045967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatggatctgaggacaggCtggacagcatttctagctcc	12	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:42045967C>A	ENST00000372583.1	-	4	5387	c.4502G>T	c.(4501-4503)aGc>aTc	p.S1501I	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1501I|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1501I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1501I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1501					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGAGGACAGGCTGGACAGCAT	0.552																																					p.S1501I		.											.	HIVEP3-157	0			c.G4502T						.						92	103	99					1																	42045967		2203	4300	6503	SO:0001583	missense	59269	exon4			GACAGGCTGGACA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4502G>T	1.37:g.42045967C>A	ENSP00000361664:p.Ser1501Ile	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	133	35	NM_024503	0	0	0	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	7.561	0.664646	0.14710	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08370	3.13;3.1;3.1;3.13	5.24	3.35	0.38373	.	0.312255	0.27901	N	0.017396	T	0.09423	0.0232	M	0.63843	1.955	0.09310	N	1	P;P	0.42203	0.773;0.664	B;B	0.39465	0.3;0.157	T	0.23440	-1.0188	10	0.87932	D	0	-2.4272	5.0573	0.14539	0.1396:0.5134:0.2713:0.0757	.	1501;1501	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	I	1501	ENSP00000361665:S1501I;ENSP00000361664:S1501I;ENSP00000247584:S1501I;ENSP00000410828:S1501I	ENSP00000247584:S1501I	S	-	2	0	HIVEP3	41818554	0.000000	0.05858	0.253000	0.24343	0.664000	0.39144	0.004000	0.13106	0.773000	0.33404	0.563000	0.77884	AGC	.		0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42045967	C	A	42045967	3	1	31	1	0	0	0	0	1	0	0	0	7215	797	28	3	2742	3	HIVEP3	1	42045967	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2227283	42045967	207204654	43	5595											
HIVEP3	59269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	42047294	42047294	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgggggcaacctccaActcagattctggaggcctgc	11	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:42047294A>G	ENST00000372583.1	-	4	4060	c.3175T>C	c.(3175-3177)Ttg>Ctg	p.L1059L	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Silent_p.L1059L|HIVEP3_ENST00000372584.1_Silent_p.L1059L|HIVEP3_ENST00000247584.5_Silent_p.L1059L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1059	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAACCTCCAACTCAGATTCT	0.587																																					p.L1059L		.											.	HIVEP3-157	0			c.T3175C						.						48	52	51					1																	42047294		2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			CCTCCAACTCAGA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3175T>C	1.37:g.42047294A>G		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	114	21	NM_024503	0	0	0	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																			.		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		G	42047294	A	G	42047294	2	3	31	1	0	0	0	0	0	0	0	1	7215	40	2	4		4	HIVEP3	1	42047294	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1327	42047294	207203327	44	5596											
MPL	4352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	43818247	43818248	+	Frame_Shift_Ins	INS	-	-	C													cccagcctccttgaaatcctINSccccaagtcctcagagagga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:43818247_43818248insC	ENST00000372470.3	+	12	1754_1755	c.1712_1713insC	c.(1711-1716)ctccccfs	p.LP571fs	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	571					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CTTGAAATCCTCCCCAAGTCCT	0.569			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.L571fs	NSCLC(52;534 1204 10016 41452 44427)	.	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	.	MPL-9885	0			c.1712_1713insC						.																																			SO:0001589	frameshift_variant	4352	exon12			AAATCCTCCCCAA	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1716dupC	1.37:g.43818251_43818251dupC	ENSP00000361548:p.Leu571fs	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	215	47	NM_005373	0	0	0	0	0	Q5JUZ0	Frame_Shift_Ins	INS	ENST00000372470.3	37	CCDS483.1																																																																																			.		0.569	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		C	43818248	-	C	43818247	7	5	31	1	0	1	1	0	0	0	0	0	9768	1551	54	0	1758	0	MPL	1	43818247	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	1770953	43818247	205432374	45	5597											
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	44063549	44063550	+	Missense_Mutation	DNP	GG	GG	AT													tactccgtggcctacgaggcGgtggacggcgaggaccgcgg					rs376955084		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:44063549_44063550GG>AT	ENST00000359947.4	+	12	2284_2285	c.1944_1945GG>AT	c.(1942-1947)gcGGtg>gcATtg	p.V649L	PTPRF_ENST00000422171.2_Intron|PTPRF_ENST00000372413.3_Missense_Mutation_p.V649L|PTPRF_ENST00000372414.3_Missense_Mutation_p.V649L|PTPRF_ENST00000438120.1_Missense_Mutation_p.V649L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	649	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTACGAGGCGGTGGACGGCGA	0.678																																					p.V649L		.											.	PTPRF-232	0			c.G1945T						.																																			SO:0001583	missense	5792	exon12			GAGGCGGTGGACG	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	Exception_encountered	1.37:g.44063549_44063550delinsAT	ENSP00000353030:p.Val649Leu	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	280	0	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	DNP	ENST00000359947.4	37	CCDS489.2																																																																																			.		0.678	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			AT	44063550	GG	AT	44063549	3	1	31	1	0	0	0	0	1	0	0	0	12846	1103	39	1	1982	1	PTPRF	1	44063549	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	245302	44063549	205187072	46	5598											
TCTEX1D4	343521	broad.mit.edu	37	chr1	45271742	45271742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtgtaggagaccgagGccagcccatcgcgcgccacg	15	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:45271742G>A	ENST00000339355.2	-	1	605	c.599C>T	c.(598-600)gCc>gTc	p.A200V	BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.A200V|BTBD19_ENST00000450269.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	200						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGAGACCGAGGCCAGCCCATC	0.637																																					p.A200V		.											.	TCTEX1D4-91	0			c.C599T						.						17	21	20					1																	45271742		2202	4298	6500	SO:0001583	missense	343521	exon2			ACCGAGGCCAGCC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.599C>T	1.37:g.45271742G>A	ENSP00000341803:p.Ala200Val	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	67	5	NM_001013632	0	0	0	0	0		Missense_Mutation	SNP	ENST00000339355.2	37	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919475	0.73098	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.28666	1.6;1.6	5.43	4.52	0.55395	.	0.077734	0.50627	D	0.000107	T	0.30166	0.0756	L	0.48877	1.53	0.42293	D	0.99214	P	0.47253	0.892	P	0.47827	0.558	T	0.06570	-1.0819	10	0.09338	T	0.73	-5.301	11.0788	0.48047	0.0867:0.0:0.9133:0.0	.	200	Q5JR98	TC1D4_HUMAN	V	200	ENSP00000341803:A200V;ENSP00000361274:A200V	ENSP00000341803:A200V	A	-	2	0	TCTEX1D4	45044329	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	5.420000	0.66441	1.291000	0.44653	0.555000	0.69702	GCC	.		0.637	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		A	45271742	G	A	45271742	3	1	31	1	0	0	0	0	1	0	0	0	15768	1203	42	3	70	3	TCTEX1D4	1	45271742	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1208193	45271742	203978879	47	5599											
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	50610817	50610817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaattcaggagtctcttCgggagcattggtgaaataga	13	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:50610817C>T	ENST00000371823.4	+	2	422	c.198C>T	c.(196-198)ttC>ttT	p.F66F	ELAVL4_ENST00000371824.1_Silent_p.F66F|ELAVL4_ENST00000371821.1_Silent_p.F71F|ELAVL4_ENST00000448907.2_Silent_p.F69F|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371827.1_Silent_p.F66F|ELAVL4_ENST00000371819.1_Silent_p.F71F|ELAVL4_ENST00000357083.4_Silent_p.F83F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	66	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)			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						GGAGTCTCTTCGGGAGCATTG	0.433																																					p.F83F		.											.	ELAVL4-516	0			c.C249T						.						95	93	93					1																	50610817		2203	4300	6503	SO:0001819	synonymous_variant	1996	exon2			TCTCTTCGGGAGC	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.198C>T	1.37:g.50610817C>T		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	187	73	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	CCDS553.1																																																																																			.		0.433	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50610817	C	T	50610817	2	4	31	1	0	0	0	0	0	0	0	1	5068	883	31	1		1	ELAVL4	1	50610817	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5339075	50610817	198639804	48	5600											
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	50659488	50659488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagggatgctaacctctatGttagcggccttcccaaaacc	8	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:50659488G>T	ENST00000371823.4	+	4	630	c.406G>T	c.(406-408)Gtt>Ttt	p.V136F	ELAVL4_ENST00000371824.1_Missense_Mutation_p.V136F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.V141F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V139F|ELAVL4_ENST00000371827.1_Missense_Mutation_p.V136F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V141F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V153F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	136	RRM 2. {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)			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						TAACCTCTATGTTAGCGGCCT	0.498																																					p.V153F		.											.	ELAVL4-516	0			c.G457T						.						172	153	159					1																	50659488		2203	4300	6503	SO:0001583	missense	1996	exon4			CTCTATGTTAGCG	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.406G>T	1.37:g.50659488G>T	ENSP00000360888:p.Val136Phe	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	259	62	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604080	0.87157	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.998;0.998	D;D;D;D;D;D;D	0.91635	0.983;0.999;0.993;0.992;0.978;0.927;0.975	T	0.71560	-0.4556	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	141;141;136;136;153;136;139	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	F	139;136;153;136;136;141;141	ENSP00000399939:V139F;ENSP00000360892:V136F;ENSP00000349594:V153F;ENSP00000360889:V136F;ENSP00000360888:V136F;ENSP00000360886:V141F;ENSP00000360884:V141F	ENSP00000349594:V153F	V	+	1	0	ELAVL4	50432075	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	GTT	.		0.498	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50659488	G	T	50659488	3	4	31	1	0	0	0	0	1	0	0	0	5068	1377	48	3	519	3	ELAVL4	1	50659488	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	48671	50659488	198591133	49	5601											
ZFYVE9	9372	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	52740214	52740214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caatgaatcttattcctgaaGatggccttcctcccattctc	5	13	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:52740214G>C	ENST00000371591.1	+	7	2835	c.2704G>C	c.(2704-2706)Gat>Cat	p.D902H	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D902H|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D843H	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	902					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						TATTCCTGAAGATGGCCTTCC	0.393																																					p.D902H		.											.	ZFYVE9-230	0			c.G2704C						.						168	150	156					1																	52740214		2203	4300	6503	SO:0001583	missense	9372	exon8			CCTGAAGATGGCC	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.2704G>C	1.37:g.52740214G>C	ENSP00000360647:p.Asp902His	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	125	8	NM_004799	0	0	0	0	0	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831185	0.91036	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.48522	0.95;0.81;0.81	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.64713	0.2623	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.803	D;P	0.91635	0.999;0.636	T	0.67213	-0.5727	10	0.87932	D	0	.	18.9139	0.92496	0.0:0.0:1.0:0.0	.	843;902	O95405-2;O95405	.;ZFYV9_HUMAN	H	843;902;902	ENSP00000349737:D843H;ENSP00000287727:D902H;ENSP00000360647:D902H	ENSP00000287727:D902H	D	+	1	0	ZFYVE9	52512802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.499000	0.97975	2.465000	0.83290	0.655000	0.94253	GAT	.		0.393	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		C	52740214	G	C	52740214	3	2	31	1	0	0	0	0	1	0	0	0	17719	942	33	3	2737	3	ZFYVE9	1	52740214	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2080726	52740214	196510407	50	5602											
WDR78	79819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67306280	67306280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtatttcttcttcctcctCcttcttagattcttcctcta	2	13	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:67306280C>T	ENST00000371026.3	-	9	1421	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	WDR78_ENST00000431318.1_Missense_Mutation_p.E202K|WDR78_ENST00000371023.3_Missense_Mutation_p.E456K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	456	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTTCCTCCTCCTTCTTAGAT	0.388																																					p.E456K		.											.	WDR78-92	0			c.G1366A						.						174	175	175					1																	67306280		2203	4300	6503	SO:0001583	missense	79819	exon9			CCTCCTCCTTCTT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1366G>A	1.37:g.67306280C>T	ENSP00000360065:p.Glu456Lys	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	143	38	NM_207014	0	0	0	0	0	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778589	0.31502	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	T;T;T;T;T	0.68903	0.35;-0.36;-0.36;2.07;1.57	5.92	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);	0.509176	0.22899	N	0.054288	T	0.48223	0.1488	L	0.57536	1.79	0.40266	D	0.97823	P;B;B	0.40398	0.716;0.394;0.394	B;B;B	0.36845	0.234;0.079;0.079	T	0.56189	-0.8020	10	0.46703	T	0.11	-9.5581	10.3119	0.43714	0.0:0.7879:0.1377:0.0744	.	202;456;456	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	K	456;202;222;456;78	ENSP00000360065:E456K;ENSP00000393182:E202K;ENSP00000433682:E222K;ENSP00000360062:E456K;ENSP00000433037:E78K	ENSP00000360062:E456K	E	-	1	0	WDR78	67078868	0.085000	0.21516	1.000000	0.80357	0.216000	0.24613	1.849000	0.39318	2.794000	0.96219	0.650000	0.86243	GAG	.		0.388	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67306280	C	T	67306280	3	4	31	1	0	0	0	0	1	0	0	0	17377	864	30	3	1273	3	WDR78	1	67306280	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	14566066	67306280	181944341	51	5603											
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	70446116	70446116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttatggatggataataatGcattacaagtgttacctggg	11	4	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70446116G>T	ENST00000035383.5	+	7	682	c.652G>T	c.(652-654)Gca>Tca	p.A218S	LRRC7_ENST00000310961.5_Missense_Mutation_p.A223S|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	218						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						GGATAATAATGCATTACAAGT	0.333																																					p.A218S		.											.	LRRC7-163	0			c.G652T						.						189	193	192					1																	70446116		2203	4300	6503	SO:0001583	missense	57554	exon7			AATAATGCATTAC		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.652G>T	1.37:g.70446116G>T	ENSP00000035383:p.Ala218Ser	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286678	0.23478	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.55413	0.52;0.52	5.25	5.25	0.73442	.	0.060414	0.64402	D	0.000003	T	0.17959	0.0431	N	0.11284	0.12	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06320	-1.0833	10	0.28530	T	0.3	.	11.9495	0.52946	0.0:0.0:0.8151:0.1849	.	218	Q96NW7	LRRC7_HUMAN	S	223;218;41	ENSP00000309245:A223S;ENSP00000035383:A218S	ENSP00000035383:A218S	A	+	1	0	LRRC7	70218704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.248000	0.58760	2.608000	0.88229	0.650000	0.86243	GCA	.		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		T	70446116	G	T	70446116	3	4	31	1	0	0	0	0	1	0	0	0	9055	1319	46	3	678	3	LRRC7	1	70446116	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3139836	70446116	178804505	52	5604											
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	70504166	70504166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaattggaccagaaccCctagtccgtttgaagacagg	12	10	0	4	rs267598707		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70504166C>A	ENST00000035383.5	+	19	2575	c.2545C>A	c.(2545-2547)Cct>Act	p.P849T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P854T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P133T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	849						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						GACCAGAACCCCTAGTCCGTT	0.483																																					p.P849T		.											.	LRRC7-163	0			c.C2545A						.						74	83	80					1																	70504166		2203	4300	6503	SO:0001583	missense	57554	exon19			AGAACCCCTAGTC		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.2545C>A	1.37:g.70504166C>A	ENSP00000035383:p.Pro849Thr	Somatic	228	0		WXS	Illumina GAIIx	Phase_I	269	59	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794930	0.70452	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.61980	0.06;0.18;1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.63849	-0.6544	10	0.28530	T	0.3	.	18.9808	0.92755	0.0:1.0:0.0:0.0	.	133;849;849	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	854;849;133;672	ENSP00000309245:P854T;ENSP00000035383:P849T;ENSP00000394867:P133T	ENSP00000035383:P849T	P	+	1	0	LRRC7	70276754	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.466000	0.80914	2.729000	0.93468	0.467000	0.42956	CCT	.		0.483	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70504166	C	A	70504166	3	1	31	1	0	0	0	0	1	0	0	0	9055	623	22	3	2619	3	LRRC7	1	70504166	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	58050	70504166	178746455	53	5605											
LRRC7	57554	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	70505345	70505345	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataacttgggtaactatggtGacaagccatcagataacagt	9	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70505345G>A	ENST00000035383.5	+	19	3754	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N	LRRC7_ENST00000310961.5_Missense_Mutation_p.D1247N|LRRC7_ENST00000415775.2_Missense_Mutation_p.D526N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1242						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						TAACTATGGTGACAAGCCATC	0.478																																					p.D1242N		.											.	LRRC7-163	0			c.G3724A						.						90	85	87					1																	70505345		2203	4300	6503	SO:0001583	missense	57554	exon19			TATGGTGACAAGC		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.3724G>A	1.37:g.70505345G>A	ENSP00000035383:p.Asp1242Asn	Somatic	126	1		WXS	Illumina GAIIx	Phase_I	139	31	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950084	0.53186	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37411	1.2;1.27;2.36	6.16	6.16	0.99307	.	0.049365	0.85682	D	0.000000	T	0.18509	0.0444	N	0.08118	0	0.50813	D	0.999897	D;P;P	0.53312	0.959;0.873;0.651	P;P;B	0.46076	0.503;0.461;0.212	T	0.03374	-1.1043	10	0.45353	T	0.12	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	526;1242;1242	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	N	1247;1242;526;1065	ENSP00000309245:D1247N;ENSP00000035383:D1242N;ENSP00000394867:D526N	ENSP00000035383:D1242N	D	+	1	0	LRRC7	70277933	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	9.328000	0.96403	2.937000	0.99478	0.650000	0.86243	GAC	.		0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70505345	G	A	70505345	3	1	31	1	0	0	0	0	1	0	0	0	9055	1290	45	3	3798	3	LRRC7	1	70505345	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1179	70505345	178745276	54	5606											
SFRS11	9295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	70701183	70701183	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatgttttatttttacaGtctcttgctgcagatcagtt	6	7	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70701183G>A	ENST00000370950.3	+	6	622		c.e6-1		SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TATTTTTACAGTCTCTTGCTG	0.338																																					.		.											.	SRSF11-227	0			c.541-1G>A						.						169	158	162					1																	70701183		2203	4300	6503	SO:0001630	splice_region_variant	9295	exon6			TTTACAGTCTCTT	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.541-1G>A	1.37:g.70701183G>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	31	7	NM_001190987	0	0	0	0	0	Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701288	0.68501	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.692	0.96007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70473771	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	8.823000	0.92018	2.660000	0.90430	0.484000	0.47621	.	.		0.338	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	A	70701183	G	A	70701183	5	1	31	1	0	0	0	0	0	0	1	0	14211	1043	36	3	558	3	SFRS11	1	70701183	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	195838	70701183	178549438	55	5607											
LRRIQ3	127255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	74507594	74507594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtatccaatttttcatccaCaatttcatcttcagactcct	3	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:74507594C>A	ENST00000395089.1	-	6	1020	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.V341L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	341										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						TTTTCATCCACAATTTCATCT	0.303																																					p.V341L		.											.	LRRIQ3-92	0			c.G1021T						.						34	34	34					1																	74507594		1818	4022	5840	SO:0001583	missense	127255	exon7			CATCCACAATTTC	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.1021G>T	1.37:g.74507594C>A	ENSP00000378524:p.Val341Leu	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	31	9	NM_001105659	0	0	0	0	0	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716183	0.15306	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08102	3.13;3.13	5.44	2.58	0.30949	.	0.457213	0.16197	N	0.225113	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.25105	0.118	B	0.20767	0.031	T	0.45644	-0.9247	10	0.48119	T	0.1	.	7.9284	0.29889	0.0:0.7426:0.0:0.2574	.	341	A6PVS8	LRIQ3_HUMAN	L	341	ENSP00000378524:V341L;ENSP00000346414:V341L	ENSP00000346414:V341L	V	-	1	0	LRRIQ3	74280182	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.342000	0.19926	0.375000	0.24679	-0.145000	0.13849	GTG	.		0.303	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		A	74507594	C	A	74507594	3	1	31	1	0	0	0	0	1	0	0	0	9065	478	17	3	861	3	LRRIQ3	1	74507594	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3806411	74507594	174743027	56	5608											
LHX8	431707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	75622718	75622718	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttattctgcctacgtgccCcaagatggaacgatgttaac	9	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:75622718C>A	ENST00000294638.5	+	9	1615	c.951C>A	c.(949-951)ccC>ccA	p.P317P	LHX8_ENST00000356261.3_Silent_p.P307P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	317					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTACGTGCCCCAAGATGGAA	0.493																																					p.P317P		.											.	LHX8-93	0			c.C951A						.						224	194	204					1																	75622718		2203	4300	6503	SO:0001819	synonymous_variant	431707	exon9			CGTGCCCCAAGAT	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.951C>A	1.37:g.75622718C>A		Somatic	205	0		WXS	Illumina GAIIx	Phase_I	237	58	NM_001001933	0	0	0	0	0	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																			.		0.493	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		A	75622718	C	A	75622718	2	1	31	1	0	0	0	0	0	0	0	1	8805	610	22	3		3	LHX8	1	75622718	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1115124	75622718	173627903	57	5609											
ASB17	127247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	76397853	76397853	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatccttggttcgtaacAgtgatatccccactgaccca	7	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:76397853A>C	ENST00000284142.6	-	1	263	c.124T>G	c.(124-126)Tgt>Ggt	p.C42G		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	42					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GGTTCGTAACAGTGATATCCC	0.403																																					p.C42G		.											.	ASB17-227	0			c.T124G						.						129	124	126					1																	76397853		2203	4300	6503	SO:0001583	missense	127247	exon1			CGTAACAGTGATA	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.124T>G	1.37:g.76397853A>C	ENSP00000284142:p.Cys42Gly	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	166	38	NM_080868	0	0	0	0	0	B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.779126	0.49891	.	.	ENSG00000154007	ENST00000284142	T	0.34667	1.35	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000005	T	0.36853	0.0982	L	0.27053	0.805	0.42692	D	0.993581	D	0.71674	0.998	D	0.75484	0.986	T	0.40850	-0.9541	10	0.87932	D	0	.	13.0348	0.58864	1.0:0.0:0.0:0.0	.	42	Q8WXJ9	ASB17_HUMAN	G	42	ENSP00000284142:C42G	ENSP00000284142:C42G	C	-	1	0	ASB17	76170441	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.918000	0.48829	2.330000	0.79161	0.533000	0.62120	TGT	.		0.403	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		C	76397853	A	C	76397853	3	2	31	1	0	0	0	0	1	0	0	0	1022	188	7	5	775	5	ASB17	1	76397853	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	775135	76397853	172852768	58	5610											
ST6GALNAC3	256435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	76877898	76877898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttttgctaaaaaaccCtgattattttttcaaggaag	5	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:76877898C>T	ENST00000328299.3	+	3	567	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	140					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						CTAAAAAACCCTGATTATTTT	0.418																																					p.P140L		.											.	ST6GALNAC3-95	0			c.C419T						.						115	116	116					1																	76877898		2203	4300	6503	SO:0001583	missense	256435	exon3			AAAACCCTGATTA		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.419C>T	1.37:g.76877898C>T	ENSP00000329214:p.Pro140Leu	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	198	90	NM_001160011	0	0	0	0	0	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117733	0.56505	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.32023	1.47	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.72576	2.205	0.80722	D	1	B;P;P	0.41848	0.146;0.607;0.763	B;P;P	0.46208	0.158;0.507;0.463	T	0.04991	-1.0913	10	0.32370	T	0.25	-17.7653	16.1338	0.81465	0.1344:0.8656:0.0:0.0	.	75;140;140	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	L	140;140;139;74	ENSP00000329214:P140L	ENSP00000329214:P140L	P	+	2	0	ST6GALNAC3	76650486	0.820000	0.29190	1.000000	0.80357	0.995000	0.86356	1.702000	0.37836	1.602000	0.50124	0.655000	0.94253	CCT	.		0.418	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		T	76877898	C	T	76877898	3	4	31	1	0	0	0	0	1	0	0	0	15272	681	24	3	429	3	ST6GALNAC3	1	76877898	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	480045	76877898	172372723	59	5611											
AK5	26289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	77759610	77759610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtatgaggtttttgatcCtaccagacctcgaccaaaaa	9	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:77759610C>A	ENST00000354567.2	+	3	643	c.380C>A	c.(379-381)cCt>cAt	p.P127H	AK5_ENST00000344720.5_Missense_Mutation_p.P101H|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	127					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTTTTTGATCCTACCAGACCT	0.408																																					p.P127H		.											.	AK5-227	0			c.C380A						.						58	59	59					1																	77759610		2203	4300	6503	SO:0001583	missense	26289	exon3			TTGATCCTACCAG	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.380C>A	1.37:g.77759610C>A	ENSP00000346577:p.Pro127His	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	161	21	NM_174858	0	0	0	0	0	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726538	0.89298	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83673	-0.64;-0.62;-1.75	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.87	D	0.86430	0.1760	10	0.51188	T	0.08	-9.4089	18.9488	0.92632	0.0:1.0:0.0:0.0	.	127;103	Q9Y6K8;Q8N291	KAD5_HUMAN;.	H	127;101;101	ENSP00000346577:P127H;ENSP00000341430:P101H;ENSP00000434409:P101H	ENSP00000341430:P101H	P	+	2	0	AK5	77532198	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.434000	0.80377	2.568000	0.86640	0.561000	0.74099	CCT	.		0.408	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		A	77759610	C	A	77759610	3	1	31	1	0	0	0	0	1	0	0	0	443	681	24	3	390	3	AK5	1	77759610	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	881712	77759610	171491011	60	5612											
AK5	26289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	77987587	77987587	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcctgattgacggcTatcctcgggaggtgaagcaa	15	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:77987587T>A	ENST00000354567.2	+	12	1650	c.1387T>A	c.(1387-1389)Tat>Aat	p.Y463N	AK5_ENST00000344720.5_Missense_Mutation_p.Y437N	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	463	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTGACGGCTATCCTCGGGA	0.582																																					p.Y463N		.											.	AK5-227	0			c.T1387A						.						51	52	52					1																	77987587		2203	4300	6503	SO:0001583	missense	26289	exon12			GACGGCTATCCTC	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1387T>A	1.37:g.77987587T>A	ENSP00000346577:p.Tyr463Asn	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	90	43	NM_174858	0	0	0	0	0	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735802	0.89482	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.81078	-1.45;-1.45	4.76	4.76	0.60689	.	0.092804	0.45606	D	0.000351	D	0.88654	0.6495	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90859	0.4737	10	0.87932	D	0	-10.9543	13.5577	0.61770	0.0:0.0:0.0:1.0	.	463	Q9Y6K8	KAD5_HUMAN	N	463;437	ENSP00000346577:Y463N;ENSP00000341430:Y437N	ENSP00000341430:Y437N	Y	+	1	0	AK5	77760175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.257000	0.78362	1.898000	0.54952	0.528000	0.53228	TAT	.		0.582	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		A	77987587	T	A	77987587	3	1	31	1	0	0	0	0	1	0	0	0	443	1522	53	5	1433	5	AK5	1	77987587	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	227977	77987587	171263034	61	5613											
ELTD1	64123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	79403806	79403806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaagagttgagttagaaagGgtgtccttggctgagatagt	15	3	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:79403806G>T	ENST00000370742.3	-	5	618	c.555C>A	c.(553-555)acC>acA	p.T185T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	185					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGTTAGAAAGGGTGTCCTTGG	0.323																																					p.T185T		.											.	ELTD1-24	0			c.C555A						.						106	100	102					1																	79403806		1844	4090	5934	SO:0001819	synonymous_variant	64123	exon5			AGAAAGGGTGTCC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.555C>A	1.37:g.79403806G>T		Somatic	221	3		WXS	Illumina GAIIx	Phase_I	195	38	NM_022159	0	0	0	0	0	B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																			.		0.323	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		T	79403806	G	T	79403806	2	4	31	1	0	0	0	0	0	0	0	1	5100	1219	43	3		3	ELTD1	1	79403806	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1416219	79403806	169846815	62	5614											
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	82372734	82372734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctttaccatttgggctgGtgaggcgagaattatcctgt	12	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:82372734G>T	ENST00000370728.1	+	6	751	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	LPHN2_ENST00000335786.5_Missense_Mutation_p.V36L|LPHN2_ENST00000394879.1_Missense_Mutation_p.V36L|LPHN2_ENST00000319517.6_Missense_Mutation_p.V36L|LPHN2_ENST00000370730.1_Missense_Mutation_p.V36L|LPHN2_ENST00000271029.4_Missense_Mutation_p.V36L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370725.1_Missense_Mutation_p.V36L|LPHN2_ENST00000359929.3_Missense_Mutation_p.V36L|LPHN2_ENST00000370723.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370717.2_Missense_Mutation_p.V36L|LPHN2_ENST00000370715.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370727.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370713.1_Missense_Mutation_p.V36L			O95490	LPHN2_HUMAN	latrophilin 2	36					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTGGGCTGGTGAGGCGAGA	0.378																																					p.V36L		.											.	LPHN2-525	0			c.G106T						.						72	70	71					1																	82372734		2203	4300	6503	SO:0001583	missense	23266	exon3			GGGCTGGTGAGGC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.106G>T	1.37:g.82372734G>T	ENSP00000359763:p.Val36Leu	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	110	54	NM_012302	0	0	0	0	0	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	G	18.08	3.543056	0.65198	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.35;-0.43;-0.4;-0.35;-0.37;-0.34;-0.38;-0.37;-0.37;-0.38;-0.37;-0.34;-0.35;-0.4	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.43923	1.385	0.80722	D	1	B;B;B;B	0.30824	0.033;0.206;0.296;0.243	B;B;B;B	0.36885	0.036;0.147;0.101;0.235	T	0.52003	-0.8633	10	0.24483	T	0.36	.	19.1389	0.93439	0.0:0.0:1.0:0.0	.	36;36;36;36	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	L	36	ENSP00000359756:V36L;ENSP00000359763:V36L;ENSP00000359765:V36L;ENSP00000359762:V36L;ENSP00000359760:V36L;ENSP00000359758:V36L;ENSP00000353006:V36L;ENSP00000359750:V36L;ENSP00000359748:V36L;ENSP00000322270:V36L;ENSP00000359752:V36L;ENSP00000378344:V36L;ENSP00000271029:V36L;ENSP00000337306:V36L	ENSP00000271029:V36L	V	+	1	0	LPHN2	82145322	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	9.695000	0.98691	2.587000	0.87381	0.557000	0.71058	GTG	.		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		T	82372734	G	T	82372734	3	4	31	1	0	0	0	0	1	0	0	0	8951	1261	44	3	112	3	LPHN2	1	82372734	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2968928	82372734	166877887	63	5615											
PRKACB	5567	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	84649726	84649726	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaattacaggttgttAaactgaagcaaatagagcat	7	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:84649726A>T	ENST00000370689.2	+	4	508	c.244A>T	c.(244-246)Aaa>Taa	p.K82*	PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.K89*|PRKACB_ENST00000370688.3_Nonsense_Mutation_p.K82*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Nonsense_Mutation_p.K88*|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.K129*|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.K86*	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACAGGTTGTTAAACTGAAGCA	0.269																																					p.K129X		.											.	PRKACB-1083	0			c.A385T						.						63	68	66					1																	84649726		2202	4285	6487	SO:0001587	stop_gained	5567	exon4			GTTGTTAAACTGA	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.244A>T	1.37:g.84649726A>T	ENSP00000359723:p.Lys82*	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	125	57	NM_182948	0	0	0	0	0	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Nonsense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357506	0.82243	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000370681	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1954	15.8279	0.78727	1.0:0.0:0.0:0.0	.	.	.	.	X	82;82;129;89;70;86;89;86;88;78;85;88;77;69;44	.	ENSP00000359713:K88X	K	+	1	0	PRKACB	84422314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.836000	0.92105	2.133000	0.65898	0.528000	0.53228	AAA	.		0.269	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		T	84649726	A	T	84649726	4	4	31	1	0	0	0	0	0	1	0	0	12540	363	13	5	449	5	PRKACB	1	84649726	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2276992	84649726	164600895	64	5616											
LPAR3	23566	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	85279733	85279733	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagatgatggggttcacgacGgagttgagcagcgccagcag	16	8	1	3	rs141619600	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:85279733G>T	ENST00000440886.1	-	2	896	c.858C>A	c.(856-858)tcC>tcA	p.S286S	LPAR3_ENST00000370611.3_Silent_p.S286S|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	286					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGTTCACGACGGAGTTGAGCA	0.582																																					p.S286S		.											.	LPAR3-502	0			c.C858A						.						114	106	109					1																	85279733		2203	4300	6503	SO:0001819	synonymous_variant	23566	exon3			CACGACGGAGTTG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.858C>A	1.37:g.85279733G>T		Somatic	149	1		WXS	Illumina GAIIx	Phase_I	192	42	NM_012152	0	0	0	0	0	A0AVA3	Silent	SNP	ENST00000440886.1	37	CCDS700.1																																																																																			G|1.000;A|0.000		0.582	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		T	85279733	G	T	85279733	2	4	31	1	0	0	0	0	0	0	0	1	8941	1103	39	2		2	LPAR3	1	85279733	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	630007	85279733	163970888	65	5617											
ODF2L	57489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	86841918	86841918	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaatgcatttacatacctGatctctaatttgggaagtaa	7	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:86841918G>C	ENST00000359242.3	-	8	1089	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000394731.1_Missense_Mutation_p.Q139E|ODF2L_ENST00000370566.3_Missense_Mutation_p.Q270E|ODF2L_ENST00000317336.7_Missense_Mutation_p.Q270E|ODF2L_ENST00000294678.2_Missense_Mutation_p.Q270E|ODF2L_ENST00000370567.1_Missense_Mutation_p.Q270E	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	270						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTACATACCTGATCTCTAATT	0.264																																					p.Q270E		.											.	ODF2L-69	0			c.C808G						.						72	67	69					1																	86841918		2201	4298	6499	SO:0001583	missense	57489	exon8			ATACCTGATCTCT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.808C>G	1.37:g.86841918G>C	ENSP00000359600:p.Gln270Glu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	68	16	NM_001007022	0	0	0	0	0	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.561417|3.561417	0.65538|0.65538	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890	.|T;T;T;T;T;T;T;D	.|0.82984	.|1.96;1.96;1.95;1.96;1.97;1.96;1.96;-1.67	5.77|5.77	4.81|4.81	0.61882|0.61882	.|.	.|0.122386	.|0.56097	.|D	.|0.000021	T|T	0.74943|0.74943	0.3783|0.3783	L|L	0.57536|0.57536	1.79|1.79	0.27187|0.27187	N|N	0.960507|0.960507	.|P;P;P;P;P;D	.|0.57257	.|0.792;0.954;0.7;0.842;0.885;0.979	.|B;P;B;B;P;P	.|0.56434	.|0.415;0.718;0.431;0.431;0.57;0.798	T|T	0.67542|0.67542	-0.5644|-0.5644	5|10	.|0.02654	.|T	.|1	-11.6077|-11.6077	11.5041|11.5041	0.50454|0.50454	0.0:0.0:0.7203:0.2797|0.0:0.0:0.7203:0.2797	.|.	.|270;270;270;270;270;270	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	M|E	118|270;270;270;146;270;270;139;270;100	.|ENSP00000359597:Q270E;ENSP00000359600:Q270E;ENSP00000433092:Q146E;ENSP00000320165:Q270E;ENSP00000359598:Q270E;ENSP00000378219:Q139E;ENSP00000294678:Q270E;ENSP00000432834:Q100E	.|ENSP00000294678:Q270E	I|Q	-|-	3|1	3|0	ODF2L|ODF2L	86614506|86614506	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	2.210000|2.210000	0.42816|0.42816	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATC|CAG	.		0.264	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			C	86841918	G	C	86841918	3	2	31	1	0	0	0	0	1	0	0	0	10867	1299	45	3	1322	3	ODF2L	1	86841918	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1562185	86841918	162408703	66	5618											
GBP4	115361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	89652054	89652054	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcctttcatgctctctgaGaaggttttccctttcctcct	6	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:89652054G>T	ENST00000355754.6	-	10	1766	c.1669C>A	c.(1669-1671)Ctc>Atc	p.L557I	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	557						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)		TGCTCTCTGAGAAGGTTTTCC	0.488																																					p.L557I		.											.	GBP4-90	0			c.C1669A						.						204	154	171					1																	89652054		2203	4300	6503	SO:0001583	missense	115361	exon10			CTCTGAGAAGGTT	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.1669C>A	1.37:g.89652054G>T	ENSP00000359490:p.Leu557Ile	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	56	13	NM_052941	0	0	0	0	0	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	7.240	0.600992	0.13939	.	.	ENSG00000162654	ENST00000355754	T	0.55760	0.5	4.39	-2.73	0.05950	Guanylate-binding protein, C-terminal (3);	0.443660	0.20161	N	0.097957	T	0.10723	0.0262	N	0.25647	0.755	0.09310	N	1	B	0.14438	0.01	B	0.24974	0.057	T	0.28202	-1.0051	10	0.13470	T	0.59	.	1.8519	0.03171	0.1689:0.1234:0.2194:0.4883	.	557	Q96PP9	GBP4_HUMAN	I	557	ENSP00000359490:L557I	ENSP00000359490:L557I	L	-	1	0	GBP4	89424642	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.842000	0.27627	-0.283000	0.09115	-2.113000	0.00352	CTC	.		0.488	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		T	89652054	G	T	89652054	3	4	31	1	0	0	0	0	1	0	0	0	6301	942	33	3	261	3	GBP4	1	89652054	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2810136	89652054	159598567	67	5619											
ZNF644	84146	ucsc.edu;bcgsc.ca	37	chr1	91406670	91406670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taaggcgttttcagatttgtCctttgacagttcttcaggca	9	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:91406670C>A	ENST00000370440.1	-	3	458	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D81Y			Q9H582	ZN644_HUMAN	zinc finger protein 644	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCAGATTTGTCCTTTGACAGT	0.388																																					p.D81Y		.											.	ZNF644-155	0			c.G241T						.						142	137	139					1																	91406670		2203	4300	6503	SO:0001583	missense	84146	exon3			ATTTGTCCTTTGA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.241G>T	1.37:g.91406670C>A	ENSP00000359469:p.Asp81Tyr	Somatic	182	3		WXS	Illumina GAIIx	Phase_I	170	71	NM_201269	0	0	0	0	0	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456164	0.63401	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00655	5.95;5.95	5.91	5.91	0.95273	.	0.195495	0.45126	D	0.000399	T	0.00815	0.0027	L	0.27053	0.805	0.80722	D	1	P	0.48503	0.911	P	0.48901	0.594	T	0.80084	-0.1530	10	0.87932	D	0	-2.9582	20.2983	0.98569	0.0:1.0:0.0:0.0	.	81	Q9H582	ZN644_HUMAN	Y	81	ENSP00000359469:D81Y;ENSP00000337008:D81Y	ENSP00000337008:D81Y	D	-	1	0	ZNF644	91179258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.346000	0.59367	2.802000	0.96397	0.655000	0.94253	GAC	.		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		A	91406670	C	A	91406670	3	1	31	1	0	0	0	0	1	0	0	0	18108	855	30	3	3758	3	ZNF644	1	91406670	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1754616	91406670	157843951	68	5620											
HFM1	164045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	91866610	91866610	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaacaaattttccaaAgaaaacaggcaatcatttga	4	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:91866610A>T	ENST00000370425.3	-	2	128	c.30T>A	c.(28-30)tcT>tcA	p.S10S	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	10					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)		AATTTTCCAAAGAAAACAGGC	0.264																																					p.S10S		.											.	HFM1-112	0			c.T30A						.						37	40	39					1																	91866610		2201	4288	6489	SO:0001819	synonymous_variant	164045	exon2			TTCCAAAGAAAAC	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.30T>A	1.37:g.91866610A>T		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	132	70	NM_001017975	0	0	0	0	0	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	9.530	1.110609	0.20714	.	.	ENSG00000162669	ENST00000370421;ENST00000427444	T	0.37235	1.21	5.57	-0.0522	0.13823	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32322	-0.9911	6	0.72032	D	0.01	.	0.7075	0.00918	0.3976:0.2388:0.2138:0.1498	.	.	.	.	H	6	ENSP00000388900:L6H	ENSP00000359450:L6H	L	-	2	0	HFM1	91639198	0.942000	0.31987	0.884000	0.34674	0.682000	0.39822	0.045000	0.14013	0.356000	0.24157	0.454000	0.30748	CTT	.		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91866610	A	T	91866610	2	4	31	1	0	0	0	0	0	0	0	1	7110	59	3	5		5	HFM1	1	91866610	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	459940	91866610	157384011	69	5621											
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	92182149	92182149	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatttcaggtcgggtgaaCagggaagcatctccttcatc	11	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92182149C>A	ENST00000525962.1	-	10	1744	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L	TGFBR3_ENST00000370399.2_Silent_p.L560L|TGFBR3_ENST00000212355.4_Silent_p.L561L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	561	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTCGGGTGAACAGGGAAGCAT	0.463																																					p.L561L		.											.	TGFBR3-93	0			c.G1683T						.						228	232	231					1																	92182149		2203	4300	6503	SO:0001819	synonymous_variant	7049	exon11			GGTGAACAGGGAA	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1683G>T	1.37:g.92182149C>A		Somatic	223	0		WXS	Illumina GAIIx	Phase_I	226	67	NM_003243	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																			.		0.463	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		A	92182149	C	A	92182149	2	1	31	1	0	0	0	0	0	0	0	1	15870	465	17	3		3	TGFBR3	1	92182149	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	315539	92182149	157068472	70	5622											
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	92193214	92193214	+	Splice_Site	DEL	A	A	-													aagacatgctccaccaacttAcaataattttcaggcttccc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92193214delA	ENST00000525962.1	-	6	947		c.e6+1		TGFBR3_ENST00000468996.2_5'Flank|TGFBR3_ENST00000370399.2_Splice_Site|TGFBR3_ENST00000212355.4_Splice_Site			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCACCAACTTACAATAATTTT	0.343																																					.		.											.	TGFBR3-93	0			c.885+2T>-						.						83	76	78					1																	92193214		2203	4300	6503	SO:0001630	splice_region_variant	7049	exon9			CAACTTACAATAA	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.885+1T>-	1.37:g.92193214delA		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	92	20	NM_001195684	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Splice_Site	DEL	ENST00000525962.1	37	CCDS30770.1																																																																																			.		0.343	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Intron	-	92193214	A	-	92193214	8	5	31	1	0	1	0	1	0	0	1	0	15870	405	14	0	1712	0	TGFBR3	1	92193214	Splice_Site	DEL	A	TCGA-OR-A5KB-01A-11D-A30A-10	11065	92193214	157057407	71	5623											
BRDT	676	hgsc.bcm.edu;bcgsc.ca	37	chr1	92447227	92447228	+	In_Frame_Ins	INS	-	-	AGC													atgtttcccgactgagtgagINSagcagcagcagcagcagcag					rs375773077		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92447227_92447228insAGC	ENST00000362005.3	+	13	2335_2336	c.1917_1918insAGC	c.(1918-1920)agc>AGCagc	p.640_640S>SS	BRDT_ENST00000394530.3_In_Frame_Ins_p.594_594S>SS|BRDT_ENST00000402388.1_In_Frame_Ins_p.640_640S>SS|BRDT_ENST00000399546.2_In_Frame_Ins_p.640_640S>SS|BRDT_ENST00000370389.2_In_Frame_Ins_p.567_567S>SS	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	640	Ser-rich.				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)		GACTGAGTGAGagcagcagcag	0.426																																					p.E643delinsES		.											.	BRDT-374	0			c.1929_1930insAGC						.		,,,,,,	21,4245		0,21,2112					,,,,,,	-11.2	0			79	2,8250		0,2,4124	no	coding,coding,coding,coding,coding,coding,coding	BRDT	NM_207189.2,NM_001726.3,NM_001242810.1,NM_001242808.1,NM_001242807.1,NM_001242806.1,NM_001242805.1	,,,,,,	0,23,6236	A1A1,A1R,RR		0.0242,0.4923,0.1837	,,,,,,	,,,,,,		23,12495				SO:0001652	inframe_insertion	676	exon12			GAGTGAGAGCAGC	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.1936_1938dupAGC	1.37:g.92447234_92447236dupAGC	ENSP00000354568:p.Ser648dup	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	348	132	NM_001242806	0	0	0	0	0	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Ins	INS	ENST00000362005.3	37	CCDS735.1																																																																																			.		0.426	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		AGC	92447228	-	AGC	92447227	7	5	31	1	0	1	1	0	0	0	0	0	1512	933	33	0	1959	0	BRDT	1	92447227	In_Frame_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	254013	92447227	156803394	72	5624											
BTBD8	284697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	92568096	92568096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttaggaaaaagataatGgagattgggatatcacaaaa	9	3	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92568096G>T	ENST00000342818.3	+	3	650	c.414G>T	c.(412-414)atG>atT	p.M138I	BTBD8_ENST00000540648.1_Missense_Mutation_p.M138I|BTBD8_ENST00000370382.3_Missense_Mutation_p.M138I	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	138						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)		AAAAGATAATGGAGATTGGGA	0.279																																					p.M138I		.											.	BTBD8-91	0			c.G414T						.						63	63	63					1																	92568096		2203	4300	6503	SO:0001583	missense	284697	exon3			GATAATGGAGATT	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.414G>T	1.37:g.92568096G>T	ENSP00000343686:p.Met138Ile	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	121	57	NM_183242	0	0	0	0	0	Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	1.004	-0.689886	0.03328	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62639	2.01;0.01;2.01	5.66	-4.57	0.03421	BTB/POZ-like (1);	2.308850	0.01934	N	0.041458	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03829	-1.1000	10	0.19590	T	0.45	-5.8722	0.6773	0.00869	0.3308:0.1047:0.2463:0.3181	.	138	Q5XKL5	BTBD8_HUMAN	I	138	ENSP00000359408:M138I;ENSP00000343686:M138I;ENSP00000443397:M138I	ENSP00000343686:M138I	M	+	3	0	BTBD8	92340684	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.359000	0.07632	-0.797000	0.04450	-0.467000	0.05162	ATG	.		0.279	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		T	92568096	G	T	92568096	3	4	31	1	0	0	0	0	1	0	0	0	1551	1348	47	3	424	3	BTBD8	1	92568096	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	120869	92568096	156682525	73	5625											
SNX7	51375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	99164270	99164270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttttttttagaatattttGatgaaatgaaagaatatggc	7	1	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99164270G>A	ENST00000306121.3	+	6	856	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SNX7_ENST00000370189.5_Missense_Mutation_p.D219N|SNX7_ENST00000529992.1_Missense_Mutation_p.D228N	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	219					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGAATATTTTGATGAAATGAA	0.343																																					p.D283N		.											.	SNX7-229	0			c.G847A						.						38	40	39					1																	99164270		2202	4298	6500	SO:0001583	missense	51375	exon6			TATTTTGATGAAA	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.847G>A	1.37:g.99164270G>A	ENSP00000304429:p.Asp283Asn	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	36	8	NM_015976	0	0	0	0	0	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286632	0.23478	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.28666	1.99;1.6;1.6	5.28	5.28	0.74379	.	0.283492	0.44097	D	0.000490	T	0.05502	0.0145	N	0.08118	0	0.30607	N	0.759945	B;B;B	0.16166	0.016;0.004;0.005	B;B;B	0.15052	0.011;0.005;0.012	T	0.28004	-1.0057	10	0.18710	T	0.47	-24.7814	8.5047	0.33179	0.0844:0.0:0.7597:0.1559	.	228;283;219	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	N	219;228;283	ENSP00000359208:D219N;ENSP00000434731:D228N;ENSP00000304429:D283N	ENSP00000304429:D283N	D	+	1	0	SNX7	98936858	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.292000	0.51772	2.639000	0.89480	0.555000	0.69702	GAT	.		0.343	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			A	99164270	G	A	99164270	3	1	31	1	0	0	0	0	1	0	0	0	14952	1290	45	3	869	3	SNX7	1	99164270	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6596174	99164270	150086351	74	5626											
LPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	99764707	99764707	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaactatacctctctgAatgtatcttgcaaagaaaat	4	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99764707A>T	ENST00000370185.3	+	4	1152	c.655A>T	c.(655-657)Aat>Tat	p.N219Y	LPPR4_ENST00000370184.1_Missense_Mutation_p.N61Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.N219Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		219					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TACCTCTCTGAATGTATCTTG	0.388																																					p.N219Y		.											.	LPPR4-93	0			c.A655T						.						123	119	120					1																	99764707		2203	4300	6503	SO:0001583	missense	0	exon4			TCTCTGAATGTAT																												ENST00000370185.3:c.655A>T	1.37:g.99764707A>T	ENSP00000359204:p.Asn219Tyr	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	153	30	NM_001166252	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589726	0.86851	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.41400	1.0;1.0;1.0	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.099109	0.64402	D	0.000001	T	0.56688	0.2002	M	0.69823	2.125	0.51767	D	0.999933	P;D	0.76494	0.861;0.999	P;D	0.79108	0.777;0.992	T	0.61987	-0.6949	10	0.66056	D	0.02	-26.3768	15.7585	0.78058	1.0:0.0:0.0:0.0	.	219;219	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Y	219;219;219;61	ENSP00000359204:N219Y;ENSP00000394913:N219Y;ENSP00000359203:N61Y	ENSP00000263178:N219Y	N	+	1	0	RP4-788L13.1	99537295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.313000	0.65798	2.191000	0.70037	0.528000	0.53228	AAT	.		0.388	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99764707	A	T	99764707	3	4	31	1	0	0	0	0	1	0	0	0	8962	246	9	5	669	5	LPPR4	1	99764707	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	600437	99764707	149485914	75	5627											
LPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	99771539	99771539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttgccgcgagccaataCcccatctgtagaagaccctg	8	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99771539C>T	ENST00000370185.3	+	7	1762	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	LPPR4_ENST00000370184.1_Missense_Mutation_p.T264I|LPPR4_ENST00000457765.1_Missense_Mutation_p.T364I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		422					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGAGCCAATACCCCATCTGTA	0.488																																					p.T422I		.											.	LPPR4-93	0			c.C1265T						.						59	61	60					1																	99771539		2203	4300	6503	SO:0001583	missense	0	exon7			CCAATACCCCATC																												ENST00000370185.3:c.1265C>T	1.37:g.99771539C>T	ENSP00000359204:p.Thr422Ile	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	140	43	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905917	0.52333	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.28454	2.17;2.08;1.61	5.71	5.71	0.89125	.	0.318283	0.38111	N	0.001802	T	0.45216	0.1331	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.923	D;P	0.68943	0.961;0.558	T	0.12630	-1.0540	9	.	.	.	-34.9919	19.8478	0.96722	0.0:1.0:0.0:0.0	.	364;422	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	I	422;364;422;264	ENSP00000359204:T422I;ENSP00000394913:T364I;ENSP00000359203:T264I	.	T	+	2	0	RP4-788L13.1	99544127	0.996000	0.38824	0.996000	0.52242	0.210000	0.24377	5.528000	0.67129	2.685000	0.91497	0.650000	0.86243	ACC	.		0.488	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99771539	C	T	99771539	3	4	31	1	0	0	0	0	1	0	0	0	8962	507	18	3	1291	3	LPPR4	1	99771539	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6832	99771539	149479082	76	5628											
LPPR4	9890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	99771739	99771739	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagagccatcgagggtaGgggtgaatggagaccaccat	15	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99771739G>T	ENST00000370185.3	+	7	1962	c.1465G>T	c.(1465-1467)Ggg>Tgg	p.G489W	LPPR4_ENST00000370184.1_Missense_Mutation_p.G331W|LPPR4_ENST00000457765.1_Missense_Mutation_p.G431W	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		489					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCGAGGGTAGGGGTGAATGG	0.537																																					p.G489W		.											.	LPPR4-93	0			c.G1465T						.						126	127	127					1																	99771739		2203	4300	6503	SO:0001583	missense	0	exon7			AGGGTAGGGGTGA																												ENST00000370185.3:c.1465G>T	1.37:g.99771739G>T	ENSP00000359204:p.Gly489Trp	Somatic	344	1		WXS	Illumina GAIIx	Phase_I	318	78	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314053	0.60414	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.29917	2.1;2.02;1.55	5.7	5.7	0.88788	.	0.249396	0.42964	D	0.000636	T	0.45478	0.1344	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.13282	-1.0515	9	.	.	.	-21.2274	19.8311	0.96636	0.0:0.0:1.0:0.0	.	431;489	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	W	489;431;489;331	ENSP00000359204:G489W;ENSP00000394913:G431W;ENSP00000359203:G331W	.	G	+	1	0	RP4-788L13.1	99544327	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	7.536000	0.82023	2.681000	0.91329	0.650000	0.86243	GGG	.		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99771739	G	T	99771739	3	4	31	1	0	0	0	0	1	0	0	0	8962	1000	35	3	1491	3	LPPR4	1	99771739	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	200	99771739	149478882	77	5629											
LPPR4	9890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	99772033	99772033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccatgtccaagcagcagGgtgtcctccaaagcagcccc	10	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99772033G>T	ENST00000370185.3	+	7	2256	c.1759G>T	c.(1759-1761)Ggt>Tgt	p.G587C	LPPR4_ENST00000370184.1_Missense_Mutation_p.G429C|LPPR4_ENST00000457765.1_Missense_Mutation_p.G529C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		587					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAAGCAGCAGGGTGTCCTCCA	0.542																																					p.G587C		.											.	LPPR4-93	0			c.G1759T						.						64	64	64					1																	99772033		2203	4300	6503	SO:0001583	missense	0	exon7			CAGCAGGGTGTCC																												ENST00000370185.3:c.1759G>T	1.37:g.99772033G>T	ENSP00000359204:p.Gly587Cys	Somatic	313	1		WXS	Illumina GAIIx	Phase_I	366	102	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937800|3.937800	0.73557|0.73557	.|.	.|.	ENSG00000117600|ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184|ENST00000263178	T;T;T|.	0.39997|.	1.58;1.39;1.05|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.109197|.	0.64402|.	D|.	0.000008|.	T|T	0.67627|0.67627	0.2913|0.2913	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.62263|0.62263	-0.6891|-0.6891	9|5	.|.	.|.	.|.	-29.3789|-29.3789	20.2822|20.2822	0.98520|0.98520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	529;587|.	E7EPS1;Q7Z2D5|.	.;LPPR4_HUMAN|.	C|S	587;529;429|552	ENSP00000359204:G587C;ENSP00000394913:G529C;ENSP00000359203:G429C|.	.|.	G|R	+|+	1|3	0|2	RP4-788L13.1|RP4-788L13.1	99544621|99544621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	9.368000|9.368000	0.97152|0.97152	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GGT|AGG	.		0.542	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99772033	G	T	99772033	3	4	31	1	0	0	0	0	1	0	0	0	8962	1232	43	3	1785	3	LPPR4	1	99772033	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	294	99772033	149478588	78	5630											
LPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	99772258	99772258	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagccttcgccaaacttacGagctcaacgatctcaacagg	8	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99772258G>T	ENST00000370185.3	+	7	2481	c.1984G>T	c.(1984-1986)Gag>Tag	p.E662*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.E504*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.E604*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		662					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCAAACTTACGAGCTCAACGA	0.507																																					p.E662X		.											.	LPPR4-93	0			c.G1984T						.						70	67	68					1																	99772258		2203	4300	6503	SO:0001587	stop_gained	0	exon7			ACTTACGAGCTCA																												ENST00000370185.3:c.1984G>T	1.37:g.99772258G>T	ENSP00000359204:p.Glu662*	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	243	120	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	43	9.895031	0.99290	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	.	.	.	5.9	5.9	0.94986	.	0.128665	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.8326	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	X	662;604;504	.	.	E	+	1	0	RP4-788L13.1	99544846	1.000000	0.71417	0.969000	0.41365	0.823000	0.46562	9.114000	0.94329	2.806000	0.96561	0.655000	0.94253	GAG	.		0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99772258	G	T	99772258	4	4	31	1	0	0	0	0	0	1	0	0	8962	1059	37	2	2010	2	LPPR4	1	99772258	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	225	99772258	149478363	79	5631											
SASS6	163786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100588833	100588833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccgtgtcatcagtcagacGaataactaagtcctaaaaga	7	9	3	2	rs541086017		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100588833G>A	ENST00000287482.5	-	3	279	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Intron	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	47	PISA.				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)		TCAGTCAGACGAATAACTAAG	0.284													G|||	1	0.000199681	0	0.0014	5008	,	,		17501	0		0	False		,,,				2504	0				p.R47C		.											.	SASS6-70	0			c.C139T						.						55	60	58					1																	100588833		2202	4297	6499	SO:0001583	missense	163786	exon3			TCAGACGAATAAC	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.139C>T	1.37:g.100588833G>A	ENSP00000287482:p.Arg47Cys	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	83	38	NM_194292	0	0	0	0	0	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036373	0.75617	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.52983	0.64	5.51	5.51	0.81932	.	0.325987	0.30347	N	0.009840	T	0.57125	0.2032	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.58222	-0.7674	10	0.54805	T	0.06	-9.6846	14.9748	0.71264	0.0:0.0:0.8568:0.1432	.	47	Q6UVJ0	SAS6_HUMAN	C	47;20	ENSP00000287482:R47C	ENSP00000287482:R47C	R	-	1	0	SASS6	100361421	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.462000	0.53042	2.584000	0.87258	0.585000	0.79938	CGT	.		0.284	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		A	100588833	G	A	100588833	3	1	31	1	0	0	0	0	1	0	0	0	13895	1058	37	1	1894	1	SASS6	1	100588833	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	816575	100588833	148661788	80	5632											
CCDC76	54482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100606445	100606445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaaaatttaaagttacTtggtccaagaagatgctttg	8	5	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100606445T>G	ENST00000370141.2	+	7	545	c.539T>G	c.(538-540)cTt>cGt	p.L180R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	180					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TTAAAGTTACTTGGTCCAAGA	0.333																																					p.L180R		.											.	.	0			c.T539G						.						110	109	109					1																	100606445		2203	4300	6503	SO:0001583	missense	54482	exon7			AGTTACTTGGTCC	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.539T>G	1.37:g.100606445T>G	ENSP00000359160:p.Leu180Arg	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	83	32	NM_019083	0	0	0	0	0	Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407916	0.83340	.	.	ENSG00000122435	ENST00000370141	T	0.58358	0.34	5.89	5.89	0.94794	Methyltransferase TRM13 (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81495	-0.0907	10	0.87932	D	0	-10.8118	16.2891	0.82738	0.0:0.0:0.0:1.0	.	166;180	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	180	ENSP00000359160:L180R	ENSP00000359160:L180R	L	+	2	0	CCDC76	100379033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.132000	0.77251	2.248000	0.74166	0.460000	0.39030	CTT	.		0.333	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		G	100606445	T	G	100606445	3	3	31	1	0	0	0	0	1	0	0	0	2857	1609	56	5	565	5	CCDC76	1	100606445	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	17612	100606445	148644176	81	5633											
CDC14A	8556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100964629	100964629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgaatggcagctcccaGccaactaccagaaattaccc	6	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100964629G>T	ENST00000336454.3	+	15	1921	c.1566G>T	c.(1564-1566)caG>caT	p.Q522H	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Q522H|CDC14A_ENST00000542213.1_Missense_Mutation_p.Q464H|CDC14A_ENST00000544534.1_Missense_Mutation_p.Q522H	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	522					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)		GCAGCTCCCAGCCAACTACCA	0.532																																					p.Q522H		.											.	CDC14A-290	0			c.G1566T						.						72	73	73					1																	100964629		2203	4300	6503	SO:0001583	missense	8556	exon15			CTCCCAGCCAACT	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.1566G>T	1.37:g.100964629G>T	ENSP00000336739:p.Gln522His	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	172	44	NM_003672	0	0	0	0	0	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140924	0.37825	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10960	2.82;2.83;3.03;2.82	5.66	2.75	0.32379	.	0.309252	0.34178	N	0.004183	T	0.07818	0.0196	L	0.32530	0.975	0.25084	N	0.9909	D;D;D;D	0.71674	0.998;0.991;0.991;0.998	D;P;P;D	0.80764	0.956;0.77;0.77;0.994	T	0.20739	-1.0266	10	0.30854	T	0.27	-13.7109	7.3193	0.26517	0.1989:0.1205:0.6806:0.0	.	464;522;522;522	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	H	464;522;522;522	ENSP00000442640:Q464H;ENSP00000354916:Q522H;ENSP00000336739:Q522H;ENSP00000442543:Q522H	ENSP00000336739:Q522H	Q	+	3	2	CDC14A	100737217	0.974000	0.33945	0.164000	0.22755	0.267000	0.26476	1.539000	0.36104	0.413000	0.25759	0.655000	0.94253	CAG	.		0.532	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		T	100964629	G	T	100964629	3	4	31	1	0	0	0	0	1	0	0	0	3063	962	34	3	1639	3	CDC14A	1	100964629	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	358184	100964629	148285992	82	5634											
COL11A1	1301	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	103345394	103345394	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtggtaggtgaaattttgccGagcagaggcagtcagaagtt	15	5	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:103345394G>T	ENST00000370096.3	-	66	5431	c.5119C>A	c.(5119-5121)Cgg>Agg	p.R1707R	COL11A1_ENST00000358392.2_Silent_p.R1719R|COL11A1_ENST00000353414.4_Silent_p.R1668R|COL11A1_ENST00000512756.1_Silent_p.R1591R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1707	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		AAATTTTGCCGAGCAGAGGCA	0.408																																					p.R1719R		.											.	COL11A1-586	0			c.C5155A						.						116	103	107					1																	103345394		2203	4300	6503	SO:0001819	synonymous_variant	1301	exon66			TTTGCCGAGCAGA	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.5119C>A	1.37:g.103345394G>T		Somatic	142	1		WXS	Illumina GAIIx	Phase_I	137	76	NM_080629	0	0	0	0	0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103345394	G	T	103345394	2	4	31	1	0	0	0	0	0	0	0	1	3674	1057	37	2		2	COL11A1	1	103345394	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2380765	103345394	145905227	83	5635											
COL11A1	1301	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	103363705	103363705	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggtggtccatcttgGcctgcagctccagggagacc	14	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:103363705G>T	ENST00000370096.3	-	57	4590	c.4278C>A	c.(4276-4278)ggC>ggA	p.G1426G	COL11A1_ENST00000358392.2_Silent_p.G1438G|COL11A1_ENST00000353414.4_Silent_p.G1387G|COL11A1_ENST00000512756.1_Silent_p.G1310G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1426	Collagen-like 6.|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)		GTCCATCTTGGCCTGCAGCTC	0.284																																					p.G1438G		.											.	COL11A1-586	0			c.C4314A						.						20	21	21					1																	103363705		2193	4297	6490	SO:0001819	synonymous_variant	1301	exon57			ATCTTGGCCTGCA	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.4278C>A	1.37:g.103363705G>T		Somatic	126	1		WXS	Illumina GAIIx	Phase_I	156	75	NM_080629	0	0	0	0	0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.		0.284	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103363705	G	T	103363705	2	4	31	1	0	0	0	0	0	0	0	1	3674	1190	42	3		3	COL11A1	1	103363705	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18311	103363705	145886916	84	5636											
NTNG1	22854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	108023431	108023431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgaccacgcTgctgggaaccgccagccccc	12	18	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108023431T>A	ENST00000370068.1	+	8	2435	c.1589T>A	c.(1588-1590)cTg>cAg	p.L530Q	NTNG1_ENST00000370061.3_Missense_Mutation_p.L496Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.L471Q|NTNG1_ENST00000370073.2_Missense_Mutation_p.L530Q|NTNG1_ENST00000542803.1_Missense_Mutation_p.L530Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.L471Q|NTNG1_ENST00000370070.2_Missense_Mutation_p.L451Q|NTNG1_ENST00000370067.1_Missense_Mutation_p.L451Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.L429Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.L485Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.L485Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	530					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGACCACGCTGCTGGGAACC	0.687																																					p.L530Q		.											.	NTNG1-140	0			c.T1589A						.						7	7	7					1																	108023431		2146	4167	6313	SO:0001583	missense	22854	exon8			CCACGCTGCTGGG	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1589T>A	1.37:g.108023431T>A	ENSP00000359085:p.Leu530Gln	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	89	34	NM_001113226	0	0	0	0	0	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423456	0.25639	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.81078	0.29;-1.22;0.25;-0.47;-0.48;-1.37;-1.45;0.29;-1.4;-1.22;-0.4	4.8	4.8	0.61643	.	0.270973	0.19052	N	0.124011	T	0.65544	0.2701	L	0.42245	1.32	0.40703	D	0.982504	P;P;P;P	0.40794	0.61;0.61;0.729;0.729	B;B;B;B	0.41332	0.282;0.193;0.354;0.354	T	0.72398	-0.4306	10	0.72032	D	0.01	.	9.2032	0.37272	0.0:0.1343:0.0:0.8657	.	496;530;471;429	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	Q	530;471;530;496;485;451;429;333;277;429;530;451;471;485	ENSP00000359090:L530Q;ENSP00000359088:L471Q;ENSP00000440561:L530Q;ENSP00000359078:L496Q;ENSP00000359089:L485Q;ENSP00000359087:L451Q;ENSP00000359091:L429Q;ENSP00000359085:L530Q;ENSP00000359084:L451Q;ENSP00000359083:L471Q;ENSP00000359082:L485Q	ENSP00000359078:L496Q	L	+	2	0	NTNG1	107824954	1.000000	0.71417	0.994000	0.49952	0.330000	0.28571	3.816000	0.55658	1.901000	0.55032	0.379000	0.24179	CTG	.		0.687	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		A	108023431	T	A	108023431	3	1	31	1	0	0	0	0	1	0	0	0	10743	1580	55	5	1749	5	NTNG1	1	108023431	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4659726	108023431	141227190	85	5637											
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	108138963	108138963	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgtagtactccacaagttCctttggaaaaaagaatccaa	6	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108138963C>A	ENST00000370056.4	-	25	2495	c.2221G>T	c.(2221-2223)Gaa>Taa	p.E741*	VAV3_ENST00000415432.2_Splice_Site_p.E181*|VAV3_ENST00000544443.1_Splice_Site_p.E145*|VAV3_ENST00000527011.1_Splice_Site_p.E741*|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	741	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCACAAGTTCCTTTGGAAAA	0.373																																					p.E741X		.											.	VAV3-1339	0			c.G2221T						.						105	101	102					1																	108138963		2203	4300	6503	SO:0001630	splice_region_variant	10451	exon25			CAAGTTCCTTTGG	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.2221-1G>T	1.37:g.108138963C>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	59	12	NM_006113	0	0	0	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	39	7.784755	0.98489	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.	.	.	5.44	5.44	0.79542	.	0.046402	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	.	.	.	X	741;741;145;181	.	ENSP00000359073:E741X	E	-	1	0	VAV3	107940486	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.270000	0.78493	2.563000	0.86464	0.585000	0.79938	GAA	.		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Nonsense_Mutation	A	108138963	C	A	108138963	5	1	31	1	0	0	0	0	0	0	1	0	17182	869	30	3	334	3	VAV3	1	108138963	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	115532	108138963	141111658	86	5638											
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	108417589	108417589	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacttttcctcattccaaaCgtctcacaacaggccgtgag	6	14	3	1	rs563011711		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108417589C>A	ENST00000370056.4	-	2	529	c.255G>T	c.(253-255)acG>acT	p.T85T	VAV3_ENST00000527011.1_Silent_p.T85T|VAV3_ENST00000371846.4_Silent_p.T20T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	85	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TCATTCCAAACGTCTCACAAC	0.348																																					p.T85T		.											.	VAV3-1339	0			c.G255T						.						88	83	85					1																	108417589		2203	4300	6503	SO:0001819	synonymous_variant	10451	exon2			TCCAAACGTCTCA	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.255G>T	1.37:g.108417589C>A		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	172	31	NM_006113	0	0	0	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811843	0.16537	.	.	ENSG00000134215	ENST00000490388	.	.	.	6.08	-12.2	0.00006	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74275	-0.3718	4	.	.	.	.	15.6881	0.77426	0.0:0.6292:0.1461:0.2247	.	.	.	.	L	80	.	.	R	-	2	0	VAV3	108219112	0.001000	0.12720	0.042000	0.18584	0.958000	0.62258	-1.164000	0.03135	-3.843000	0.00100	-0.797000	0.03246	CGT	.		0.348	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		A	108417589	C	A	108417589	2	1	31	1	0	0	0	0	0	0	0	1	17182	523	19	2		2	VAV3	1	108417589	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	278626	108417589	140833032	87	5639											
FAM102B	284611	bcgsc.ca	37	chr1	109170821	109170821	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agagtgcctctgttccagacGaacttggtgcctgtggacat	12	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:109170821G>T	ENST00000370035.3	+	7	929	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	FAM102B_ENST00000405454.1_Nonsense_Mutation_p.E197*	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	197										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TGTTCCAGACGAACTTGGTGC	0.383																																					p.E197X		.											.	FAM102B-135	0			c.G589T						.						106	96	99					1																	109170821		2203	4300	6503	SO:0001587	stop_gained	284611	exon7			CCAGACGAACTTG	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.589G>T	1.37:g.109170821G>T	ENSP00000359052:p.Glu197*	Somatic	557	4		WXS	Illumina GAIIx	Phase_I	531	210	NM_001010883	0	0	0	0	0	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Nonsense_Mutation	SNP	ENST00000370035.3	37	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	40	8.262343	0.98732	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.41	5.41	0.78517	.	0.046316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-24.141	19.1869	0.93647	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000359052:E197X	E	+	1	0	FAM102B	108972344	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	7.425000	0.80255	2.524000	0.85096	0.655000	0.94253	GAA	.		0.383	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		T	109170821	G	T	109170821	4	4	31	1	0	0	0	0	0	1	0	0	5402	1059	37	2	615	2	FAM102B	1	109170821	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	753232	109170821	140079800	88	5640											
PRPF38B	55119	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	109242505	109242505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatctagaaagcgtagtAgaagcaaagaacgttcccac	8	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:109242505A>G	ENST00000370025.4	+	6	1773	c.1504A>G	c.(1504-1506)Aga>Gga	p.R502G	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R391G	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	502					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)		AAAGCGTAGTAGAAGCAAAGA	0.418																																					p.R502G		.											.	PRPF38B-90	0			c.A1504G						.						130	130	130					1																	109242505		2203	4300	6503	SO:0001583	missense	55119	exon6			CGTAGTAGAAGCA	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.1504A>G	1.37:g.109242505A>G	ENSP00000359042:p.Arg502Gly	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	156	43	NM_018061	0	0	0	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	A	2.133	-0.398604	0.04865	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.28895	1.59;2.57	5.41	2.96	0.34315	.	0.434403	0.26586	N	0.023555	T	0.07728	0.0194	N	0.24115	0.695	0.38947	D	0.958266	B	0.02656	0.0	B	0.04013	0.001	T	0.14811	-1.0459	10	0.19590	T	0.45	.	11.1489	0.48447	0.9082:0.0:0.0918:0.0	.	502	Q5VTL8	PR38B_HUMAN	G	502;391	ENSP00000359042:R502G;ENSP00000359038:R391G	ENSP00000359038:R391G	R	+	1	2	PRPF38B	109044028	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.380000	0.34351	0.329000	0.23460	-0.252000	0.11476	AGA	.		0.418	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		G	109242505	A	G	109242505	3	3	31	1	0	0	0	0	1	0	0	0	12610	412	15	4	1526	4	PRPF38B	1	109242505	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	71684	109242505	140008116	89	5641											
AMIGO1	57463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	110050171	110050171	+	Frame_Shift_Del	DEL	C	C	-													tgttgcctggcttgagcttgCcgttttgaccctgcccaggt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110050171delC	ENST00000369864.4	-	2	1713	c.1364delG	c.(1363-1365)ggcfs	p.G455fs	AMIGO1_ENST00000369862.1_Frame_Shift_Del_p.G455fs					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTTGAGCTTGCCGTTTTGACC	0.582																																					p.G455fs		.											.	AMIGO1-136	0			c.1364delG						.						97	85	89					1																	110050171		2203	4300	6503	SO:0001589	frameshift_variant	57463	exon2			AGCTTGCCGTTTT		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1364delG	1.37:g.110050171delC	ENSP00000358880:p.Gly455fs	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	171	38	NM_020703	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000369864.4	37	CCDS30795.1																																																																																			.		0.582	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		-	110050171	C	-	110050171	7	5	31	1	0	1	0	1	0	0	0	0	575	739	26	0	121	0	AMIGO1	1	110050171	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	807666	110050171	139200450	90	5642											
GPR61	83873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110085990	110085990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttggggaggtggcctgcCgcctctacttgtttctgagc	13	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110085990C>T	ENST00000527748.1	+	2	1029	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCCTGCCGCCTCTACTT	0.612																																					p.R116C		.											.	GPR61-91	0			c.C346T						.						85	79	81					1																	110085990		2203	4300	6503	SO:0001583	missense	83873	exon2			GCCTGCCGCCTCT	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.346C>T	1.37:g.110085990C>T	ENSP00000432456:p.Arg116Cys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	97	49	NM_031936	0	0	0	0	0	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440223	0.63067	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.73363	-0.74	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.131800	0.52532	D	0.000069	D	0.83004	0.5160	M	0.67397	2.05	0.54753	D	0.999985	D	0.89917	1.0	D	0.70016	0.967	D	0.84576	0.0658	10	0.87932	D	0	-27.2738	18.9139	0.92496	0.0:1.0:0.0:0.0	.	116	Q9BZJ8	GPR61_HUMAN	C	116;244	ENSP00000432456:R116C	ENSP00000286603:R244C	R	+	1	0	GPR61	109887513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.090000	0.50191	2.548000	0.85928	0.655000	0.94253	CGC	.		0.612	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			T	110085990	C	T	110085990	3	4	31	1	0	0	0	0	1	0	0	0	6728	652	23	1	348	1	GPR61	1	110085990	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35819	110085990	139164631	91	5643											
GNAT2	2780	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	110148630	110148630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccatatcataggcacTgagggctgcacagaaaatga	10	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110148630T>A	ENST00000351050.3	-	6	868	c.682A>T	c.(682-684)Agt>Tgt	p.S228C		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	228					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCATAGGCACTGAGGGCTGCA	0.507																																					p.S228C		.											.	GNAT2-227	0			c.A682T						.						130	117	122					1																	110148630		2203	4300	6503	SO:0001583	missense	2780	exon6			AGGCACTGAGGGC	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.682A>T	1.37:g.110148630T>A	ENSP00000251337:p.Ser228Cys	Somatic	264	1		WXS	Illumina GAIIx	Phase_I	269	57	NM_005272	0	0	0	0	0		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822201	0.90873	.	.	ENSG00000134183	ENST00000351050	D	0.92545	-3.06	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	.	14.9829	0.71324	0.0:0.0:0.0:1.0	.	228	P19087	GNAT2_HUMAN	C	228	ENSP00000251337:S228C	ENSP00000251337:S228C	S	-	1	0	GNAT2	109950153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.261000	0.74972	0.533000	0.62120	AGT	.		0.507	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		A	110148630	T	A	110148630	3	1	31	1	0	0	0	0	1	0	0	0	6538	1580	55	5	394	5	GNAT2	1	110148630	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	62640	110148630	139101991	92	5644											
KCNC4	3749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110766353	110766353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgtactactccctggcCatggccaagcagaagctgcc	11	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110766353C>A	ENST00000369787.3	+	2	1473	c.1446C>A	c.(1444-1446)gcC>gcA	p.A482A	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.A482A|KCNC4_ENST00000413138.3_Silent_p.A482A	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	482					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACTCCCTGGCCATGGCCAAGC	0.612																																					p.A482A		.											.	KCNC4-154	0			c.C1446A						.						105	100	101					1																	110766353		2203	4300	6503	SO:0001819	synonymous_variant	3749	exon2			CCTGGCCATGGCC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1446C>A	1.37:g.110766353C>A		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	128	25	NM_001039574	0	0	0	0	0	Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	CCDS821.1																																																																																			.		0.612	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110766353	C	A	110766353	2	1	31	1	0	0	0	0	0	0	0	1	8044	581	21	3		3	KCNC4	1	110766353	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	617723	110766353	138484268	93	5645											
FAM19A3	284467	ucsc.edu;bcgsc.ca	37	chr1	113266683	113266683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagatggagccctgcctgcCgggggaggagtgtaaggtgc	18	9	1	1	rs538277150		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:113266683C>A	ENST00000361886.3	+	4	373	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	FAM19A3_ENST00000369630.3_Silent_p.R128R	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	105						extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGCCTGCCGGGGGAGGAG	0.622																																					p.P105Q		.											.	FAM19A3-90	0			c.C314A						.						63	56	59					1																	113266683		2203	4300	6503	SO:0001583	missense	284467	exon4			GCCTGCCGGGGGA	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.314C>A	1.37:g.113266683C>A	ENSP00000355042:p.Pro105Gln	Somatic	238	3		WXS	Illumina GAIIx	Phase_I	235	112	NM_182759	0	0	0	0	0	B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	ENST00000361886.3	37	CCDS856.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682146	0.68042	.	.	ENSG00000184599	ENST00000361886	.	.	.	5.58	2.55	0.30701	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.22911	N	0.998573	B	0.16603	0.018	B	0.16722	0.016	T	0.29458	-1.0011	7	0.59425	D	0.04	-1.0702	5.3761	0.16166	0.3924:0.4567:0.0:0.1509	.	105	Q7Z5A8	F19A3_HUMAN	Q	105	.	ENSP00000355042:P105Q	P	+	2	0	FAM19A3	113068206	0.172000	0.23043	0.351000	0.25721	0.991000	0.79684	0.720000	0.25896	0.253000	0.21552	0.655000	0.94253	CCG	.		0.622	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759		A	113266683	C	A	113266683	3	1	31	1	0	0	0	0	1	0	0	0	5552	652	23	2	392	2	FAM19A3	1	113266683	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2500330	113266683	135983938	94	5646											
VANGL1	81839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	116206308	116206308	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactggggagagaccaccacGgccatcacaggcacctcgga	12	14	1	1	rs186509771		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:116206308G>T	ENST00000355485.2	+	4	502	c.231G>T	c.(229-231)acG>acT	p.T77T	VANGL1_ENST00000369510.4_Silent_p.T75T|VANGL1_ENST00000369509.1_Silent_p.T77T|VANGL1_ENST00000310260.3_Silent_p.T77T	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	77					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)		AGACCACCACGGCCATCACAG	0.542																																					p.T77T		.											.	VANGL1-226	0			c.G231T						.						97	90	92					1																	116206308		2203	4300	6503	SO:0001819	synonymous_variant	81839	exon4			CACCACGGCCATC	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.231G>T	1.37:g.116206308G>T		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	124	33	NM_001172412	0	0	0	0	0	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	CCDS883.1																																																																																			G|0.999;A|0.000		0.542	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			T	116206308	G	T	116206308	2	4	31	1	0	0	0	0	0	0	0	1	17168	1103	39	2		2	VANGL1	1	116206308	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2939625	116206308	133044313	95	5647											
ZNF697	90874	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	120165428	120165428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttgcccgtgtggatgCggcggtggcggatcaggtgg	20	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:120165428C>A	ENST00000421812.2	-	3	1657	c.1538G>T	c.(1537-1539)cGc>cTc	p.R513L		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	513					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)		CGTGTGGATGCGGCGGTGGCG	0.627																																					p.R513L		.											.	ZNF697-23	0			c.G1538T						.						14	20	18					1																	120165428		2172	4286	6458	SO:0001583	missense	90874	exon3			TGGATGCGGCGGT	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.1538G>T	1.37:g.120165428C>A	ENSP00000396857:p.Arg513Leu	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	174	81	NM_001080470	0	0	0	0	0	Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264064	0.59431	.	.	ENSG00000143067	ENST00000421812	T	0.25085	1.82	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002277	T	0.33847	0.0877	M	0.62154	1.92	0.47183	D	0.999347	D	0.55385	0.971	P	0.55222	0.771	T	0.08126	-1.0737	10	0.87932	D	0	-36.4602	16.591	0.84765	0.0:1.0:0.0:0.0	.	513	Q5TEC3	ZN697_HUMAN	L	513	ENSP00000396857:R513L	ENSP00000396857:R513L	R	-	2	0	ZNF697	119966951	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.575000	0.46025	2.713000	0.92767	0.655000	0.94253	CGC	.		0.627	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120165428	C	A	120165428	3	1	31	1	0	0	0	0	1	0	0	0	18148	768	27	2	103	2	ZNF697	1	120165428	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3959120	120165428	129085193	96	5648											
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_024408	0	0	0	0	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	31	1	0	0	0	0	1	0	0	0	10587	1079	38	2	7494	2	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	446536	120611964	128638657	97	5649											
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	144852481	144852481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggctggagtacatggcaGagcccttagggatttcacct	12	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144852481G>T	ENST00000369354.3	-	44	7207	c.7018C>A	c.(7018-7020)Ctg>Atg	p.L2340M	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L2476M|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2425M|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L2234M|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2340					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)		GTACATGGCAGAGCCCTTAGG	0.512			T	PDGFRB	MPD																																p.L2340M		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C7018A						.						47	47	47					1																	144852481		2203	4292	6495	SO:0001583	missense	9659	exon44			ATGGCAGAGCCCT	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.7018C>A	1.37:g.144852481G>T	ENSP00000358360:p.Leu2340Met	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	102	38	NM_014644	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	.	10.63	1.403773	0.25291	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000530740;ENST00000369359	T;T;T;T	0.01887	4.58;4.67;4.68;4.67	3.94	3.94	0.45596	.	.	.	.	.	T	0.04048	0.0113	L	0.51422	1.61	0.80722	D	1	D;P	0.76494	0.999;0.94	D;P	0.87578	0.998;0.467	T	0.56038	-0.8045	9	0.31617	T	0.26	.	11.7055	0.51595	0.0:0.0:1.0:0.0	.	2234;2340	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	M	2234;2340;2425;2476	ENSP00000327209:L2234M;ENSP00000358360:L2340M;ENSP00000435654:L2425M;ENSP00000358366:L2476M	ENSP00000327209:L2234M	L	-	1	2	PDE4DIP	143563838	0.197000	0.23362	0.694000	0.30210	0.630000	0.37929	2.037000	0.41174	2.216000	0.71823	0.549000	0.68633	CTG	.		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144852481	G	T	144852481	3	4	31	1	0	0	0	0	1	0	0	0	11682	933	33	3	26	3	PDE4DIP	1	144852481	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24240517	144852481	104398140	98	5650											
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	144854656	144854656	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctttctgttgattctcCctggataagaggaacagact	8	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144854656C>A	ENST00000369354.3	-	42	7003	c.6814G>T	c.(6814-6816)Gga>Tga	p.G2272*	PDE4DIP_ENST00000369359.4_Splice_Site_p.G2408*|PDE4DIP_ENST00000530740.1_Splice_Site_p.G2357*|PDE4DIP_ENST00000313382.9_Splice_Site_p.G2166*|PDE4DIP_ENST00000369356.4_Splice_Site_p.G2272*|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2272					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)		GTTGATTCTCCCTGGATAAGA	0.468			T	PDGFRB	MPD																																p.G2272X		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.G6814T						.						211	187	195					1																	144854656		2203	4300	6503	SO:0001630	splice_region_variant	9659	exon42			ATTCTCCCTGGAT	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.6814-1G>T	1.37:g.144854656C>A		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	225	29	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	49	15.374426	0.99831	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	4.0	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.8186	0.40869	0.0:0.8953:0.0:0.1047	.	.	.	.	X	2166;2272;2272;2357;2408	.	ENSP00000327209:G2166X	G	-	1	0	PDE4DIP	143566013	1.000000	0.71417	0.921000	0.36526	0.346000	0.29079	5.652000	0.67959	0.847000	0.35167	-0.432000	0.05891	GGA	.		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Nonsense_Mutation	A	144854656	C	A	144854656	5	1	31	1	0	0	0	0	0	0	1	0	11682	637	22	3	238	3	PDE4DIP	1	144854656	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2175	144854656	104395965	99	5651											
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	144865885	144865885	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgttctcattgcagagctGaggtatggactccaggccct	11	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144865885G>C	ENST00000369354.3	-	35	5884	c.5695C>G	c.(5695-5697)Cag>Gag	p.Q1899E	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2035E|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1984E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1793E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1899E|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1899					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)		TTGCAGAGCTGAGGTATGGAC	0.463			T	PDGFRB	MPD																																p.Q1899E		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C5695G						.						274	285	281					1																	144865885		2203	4296	6499	SO:0001583	missense	9659	exon35			AGAGCTGAGGTAT	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.5695C>G	1.37:g.144865885G>C	ENSP00000358360:p.Gln1899Glu	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	221	15	NM_014644	0	0	0	0	0	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	18.72	3.684639	0.68157	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01918	4.56;4.6;4.59;4.64;4.62	5.72	5.72	0.89469	.	.	.	.	.	T	0.06645	0.0170	M	0.68952	2.095	0.80722	D	1	D;D	0.58620	0.983;0.969	P;D	0.64877	0.826;0.93	T	0.18935	-1.0321	9	0.48119	T	0.1	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	1793;1899	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	E	1793;1899;1899;1984;2035	ENSP00000327209:Q1793E;ENSP00000358360:Q1899E;ENSP00000358363:Q1899E;ENSP00000435654:Q1984E;ENSP00000358366:Q2035E	ENSP00000327209:Q1793E	Q	-	1	0	PDE4DIP	143577242	1.000000	0.71417	0.984000	0.44739	0.137000	0.21094	5.266000	0.65525	2.695000	0.91970	0.650000	0.86243	CAG	.		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144865885	G	C	144865885	3	2	31	1	0	0	0	0	1	0	0	0	11682	1299	45	3	1385	3	PDE4DIP	1	144865885	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	11229	144865885	104384736	100	5652											
ITGA10	8515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	145533058	145533059	+	Missense_Mutation	DNP	GG	GG	AT													ctgcttctgtcccacaggatGggattctttttgggatggtg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:145533058_145533059GG>AT	ENST00000369304.3	+	11	1328_1329	c.1153_1154GG>AT	c.(1153-1155)GGg>ATg	p.G385M	ITGA10_ENST00000539363.1_Missense_Mutation_p.G242M|ITGA10_ENST00000538811.1_Missense_Mutation_p.G254M	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	385					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCACAGGATGGGATTCTTTTT	0.535																																					p.G385R|p.G385V		.											.	ITGA10-231	0			c.G1153A|c.G1154T						.																																			SO:0001583	missense	8515	exon11			CAGGATGGGATTC|AGGATGGGATTCT	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	Exception_encountered	1.37:g.145533058_145533059delinsAT	ENSP00000358310:p.Gly385Met	Somatic	44|46	0|1		WXS	Illumina GAIIx	Phase_I	74|76	25	NM_003637	0	0	0	0	0	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1																																																																																			.		0.535	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		AT	145533059	GG	AT	145533058	3	1	31	1	0	0	0	0	1	0	0	0	7900	1348	47	3	1195	3	ITGA10	1	145533058	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	667173	145533058	103717563	101	5653											
GJA8	2703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	147380254	147380254	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcgtgtgcaacacccagCagcctggctgcgagaacgtc	11	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:147380254C>T	ENST00000369235.1	+	1	172	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	GJA8_ENST00000240986.4_Nonsense_Mutation_p.Q58*			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	58					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAACACCCAGCAGCCTGGCTG	0.597																																					p.Q58X	Melanoma(76;1255 1795 8195 52096)	.											.	GJA8-138	0			c.C172T						.						137	109	118					1																	147380254		2203	4300	6503	SO:0001587	stop_gained	2703	exon2			ACCCAGCAGCCTG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.172C>T	1.37:g.147380254C>T	ENSP00000358238:p.Gln58*	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	270	75	NM_005267	0	0	0	0	0	A7L5M5|Q5VVN9|Q9NP25	Nonsense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	37	6.059725	0.97246	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.262	0.90039	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000240986:Q58X	Q	+	1	0	GJA8	145846878	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.755000	0.85180	2.297000	0.77311	0.491000	0.48974	CAG	.		0.597	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380254	C	T	147380254	4	4	31	1	0	0	0	0	0	1	0	0	6431	711	25	3	174	3	GJA8	1	147380254	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1847196	147380254	101870367	102	5654											
PSMD4	5710	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151236481	151236481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggcaagatcaccttcTgcacgggcatccgcgtggcc	12	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151236481T>C	ENST00000368884.3	+	3	339	c.259T>C	c.(259-261)Tgc>Cgc	p.C87R	PSMD4_ENST00000368881.4_Missense_Mutation_p.C87R|PSMD4_ENST00000469786.2_3'UTR	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	87	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATCACCTTCTGCACGGGCAT	0.572																																					p.C87R		.											.	PSMD4-90	0			c.T259C						.						106	76	86					1																	151236481		2203	4300	6503	SO:0001583	missense	5710	exon3			ACCTTCTGCACGG	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.259T>C	1.37:g.151236481T>C	ENSP00000357879:p.Cys87Arg	Somatic	201	1		WXS	Illumina GAIIx	Phase_I	339	93	NM_002810	0	0	0	0	0	D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	CCDS991.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192856	0.78902	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.13196	2.61;2.61;2.61	5.36	5.36	0.76844	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.53249	1.67	0.80722	D	1	P;P	0.38335	0.627;0.627	P;P	0.44422	0.449;0.449	T	0.09662	-1.0664	10	0.24483	T	0.36	-14.8227	13.743	0.62860	0.0:0.0:0.0:1.0	.	87;87	Q5VWC4;P55036	.;PSMD4_HUMAN	R	87;87;72	ENSP00000357879:C87R;ENSP00000357876:C87R;ENSP00000414499:C72R	ENSP00000357876:C87R	C	+	1	0	PSMD4	149503105	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.812000	0.69194	2.257000	0.74773	0.460000	0.39030	TGC	.		0.572	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		C	151236481	T	C	151236481	3	2	31	1	0	0	0	0	1	0	0	0	12742	1580	55	4	269	4	PSMD4	1	151236481	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3856227	151236481	98014140	103	5655											
POGZ	23126	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151377850	151377850	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcatgcctttgctgcGctggcaagctgtgtgcttct	11	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151377850G>C	ENST00000271715.2	-	19	3975	c.3661C>G	c.(3661-3663)Cgc>Ggc	p.R1221G	POGZ_ENST00000491586.1_Missense_Mutation_p.R1177G|POGZ_ENST00000368863.2_Missense_Mutation_p.R1126G|POGZ_ENST00000392723.1_Missense_Mutation_p.R1168G|POGZ_ENST00000409503.1_Missense_Mutation_p.R1212G|POGZ_ENST00000540984.1_Missense_Mutation_p.R583G|POGZ_ENST00000361398.3_Missense_Mutation_p.R1168G|POGZ_ENST00000531094.1_Missense_Mutation_p.R1159G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1221	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CCTTTGCTGCGCTGGCAAGCT	0.527																																					p.R1221G		.											.	POGZ-93	0			c.C3661G						.						113	98	103					1																	151377850		2203	4300	6503	SO:0001583	missense	23126	exon19			TGCTGCGCTGGCA	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3661C>G	1.37:g.151377850G>C	ENSP00000271715:p.Arg1221Gly	Somatic	178	1		WXS	Illumina GAIIx	Phase_I	176	29	NM_015100	0	0	0	0	0	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093621	0.08632	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	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	5.98	5.98	0.97165	.	0.337402	0.29355	N	0.012386	T	0.11153	0.0272	N	0.08118	0	0.26044	N	0.981567	B;B;B;B;B;B	0.15141	0.005;0.012;0.011;0.011;0.004;0.012	B;B;B;B;B;B	0.23419	0.029;0.046;0.025;0.025;0.017;0.046	T	0.08638	-1.0712	10	0.22706	T	0.39	-3.0374	12.6902	0.56970	0.0:0.0:0.7453:0.2547	.	1159;1212;1126;1177;1168;1221	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	G	1168;1221;1168;1126;1212;1159;583;1177	ENSP00000376484:R1168G;ENSP00000271715:R1221G;ENSP00000354467:R1168G;ENSP00000357856:R1126G;ENSP00000386836:R1212G;ENSP00000431259:R1159G;ENSP00000443547:R583G;ENSP00000418408:R1177G	ENSP00000271715:R1221G	R	-	1	0	POGZ	149644474	0.436000	0.25586	1.000000	0.80357	0.953000	0.61014	2.154000	0.42291	2.838000	0.97847	0.591000	0.81541	CGC	.		0.527	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		C	151377850	G	C	151377850	3	2	31	1	0	0	0	0	1	0	0	0	12225	1087	38	2	575	2	POGZ	1	151377850	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	141369	151377850	97872771	104	5656											
POGZ	23126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151402135	151402135	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacgttcagcacaatcCcaacctgattcattgcattt	6	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151402135C>G	ENST00000271715.2	-	5	826	c.512G>C	c.(511-513)gGg>gCg	p.G171A	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000392723.1_Missense_Mutation_p.G118A|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.G171A|POGZ_ENST00000361398.3_Missense_Mutation_p.G118A|POGZ_ENST00000491586.1_Missense_Mutation_p.G118A|POGZ_ENST00000531094.1_Missense_Mutation_p.G118A	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	171					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CAGCACAATCCCAACCTGATT	0.398																																					p.G171A		.											.	POGZ-93	0			c.G512C						.						172	142	152					1																	151402135		2203	4300	6503	SO:0001583	missense	23126	exon5			ACAATCCCAACCT	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.512G>C	1.37:g.151402135C>G	ENSP00000271715:p.Gly171Ala	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	152	31	NM_015100	0	0	0	0	0	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440919	0.83993	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	D	0.87184	0.6114	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.83275	0.981;0.987;0.996;0.992;0.992;0.987	D	0.88441	0.3042	10	0.42905	T	0.14	-16.0792	16.9732	0.86306	0.0:1.0:0.0:0.0	.	118;171;171;118;118;171	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	A	118;171;118;171;118;118;171	ENSP00000376484:G118A;ENSP00000271715:G171A;ENSP00000354467:G118A;ENSP00000386836:G171A;ENSP00000431259:G118A;ENSP00000418408:G118A	ENSP00000271715:G171A	G	-	2	0	POGZ	149668759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.189000	0.65098	2.587000	0.87381	0.655000	0.94253	GGG	.		0.398	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		G	151402135	C	G	151402135	3	3	31	1	0	0	0	0	1	0	0	0	12225	623	22	3	3794	3	POGZ	1	151402135	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	24285	151402135	97848486	105	5657											
THEM4	117145	hgsc.bcm.edu	37	chr1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcctactggcggcAggcacagagcccccagcgtg	16	16	0	1	rs3748805	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1	1	1					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_053055	0	0	0	0	0	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		C	151881885	A	C	151881885	3	2	31	1	0	0	0	0	1	0	0	0	15905	188	7	5	696	5	THEM4	1	151881885	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	479750	151881885	97368736	106	5658											
TCHH	7062	hgsc.bcm.edu	37	chr1	152084432	152084432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcagctgctgctcgcGcctcagctgctgctcgcgcc	12	19	2	0	rs373487652		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152084432G>C	ENST00000368804.1	-	2	1260	c.1261C>G	c.(1261-1263)Cgc>Ggc	p.R421G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	421	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)			TGCTGCTCGCGCCTCAgctgc	0.706																																					p.R421G		.											.	TCHH-72	0			c.C1261G						.						10	12	12					1																	152084432		1887	4089	5976	SO:0001583	missense	7062	exon3			GCTCGCGCCTCAG	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.1261C>G	1.37:g.152084432G>C	ENSP00000357794:p.Arg421Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	56	7	NM_007113	0	0	0	0	0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	7.455	0.643436	0.14451	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	3.43	2.48	0.30137	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.31680	0.335	B	0.30943	0.122	T	0.47058	-0.9146	9	0.54805	T	0.06	.	9.5738	0.39445	0.0:0.0:0.7886:0.2114	.	421	Q07283	TRHY_HUMAN	G	421	ENSP00000357794:R421G	ENSP00000357794:R421G	R	-	1	0	TCHH	150351056	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	0.267000	0.18552	0.644000	0.30656	0.496000	0.49642	CGC	.		0.706	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152084432	G	C	152084432	3	2	31	1	0	0	0	0	1	0	0	0	15747	1087	38	2	4574	2	TCHH	1	152084432	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	202547	152084432	97166189	107	5659											
RPTN	126638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152129433	152129433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctctgggtcatttgGtctctgttaggagataaaac	10	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152129433G>A	ENST00000316073.3	-	3	206	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGTCATTTGGTCTCTGTTAG	0.428																																					p.P48S		.											.	RPTN-68	0			c.C142T						.						100	86	90					1																	152129433		1568	3582	5150	SO:0001583	missense	126638	exon3			CATTTGGTCTCTG	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.142C>T	1.37:g.152129433G>A	ENSP00000317895:p.Pro48Ser	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	107	27	NM_001122965	0	0	0	0	0	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032151	0.75504	.	.	ENSG00000215853	ENST00000316073	T	0.16457	2.34	5.03	5.03	0.67393	EF-hand-like domain (1);	.	.	.	.	T	0.32224	0.0822	M	0.78637	2.42	0.31687	N	0.642393	D	0.89917	1.0	D	0.72075	0.976	T	0.15780	-1.0425	9	0.87932	D	0	-3.1421	13.846	0.63468	0.0:0.0:1.0:0.0	.	48	Q6XPR3	RPTN_HUMAN	S	48	ENSP00000317895:P48S	ENSP00000317895:P48S	P	-	1	0	RPTN	150396057	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.662000	0.46766	2.331000	0.79229	0.542000	0.68232	CCA	.		0.428	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		A	152129433	G	A	152129433	3	1	31	1	0	0	0	0	1	0	0	0	13709	1261	44	3	2216	3	RPTN	1	152129433	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	45001	152129433	97121188	108	5660											
HRNR	388697	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	152188311	152188311	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggccgtggcccaaagactGacgggagccagacccatgct	13	13	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152188311G>A	ENST00000368801.2	-	3	5869	c.5794C>T	c.(5794-5796)Cag>Tag	p.Q1932*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1932					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)			CCCAAAGACTGACGGGAGCCA	0.582																																					p.Q1932X		.											.	HRNR-93	0			c.C5794T						.						165	250	222					1																	152188311		2100	4264	6364	SO:0001587	stop_gained	388697	exon3			AAGACTGACGGGA	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.5794C>T	1.37:g.152188311G>A	ENSP00000357791:p.Gln1932*	Somatic	1106	2		WXS	Illumina GAIIx	Phase_I	1978	183	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	42	9.624818	0.99223	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.24	0.00395	0.14056	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.9967	0.30271	0.0:0.5024:0.3268:0.1708	.	.	.	.	X	1932	.	ENSP00000357791:Q1932X	Q	-	1	0	HRNR	150454935	0.195000	0.23338	0.001000	0.08648	0.007000	0.05969	1.096000	0.30976	0.027000	0.15297	-0.318000	0.08688	CAG	.		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152188311	G	A	152188311	4	1	31	1	0	0	0	0	0	1	0	0	7386	1299	45	3	2762	3	HRNR	1	152188311	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	58878	152188311	97062310	109	5661											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	152276700	152276700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagcagacccagaccaCctctcagagtcttctgagtg	10	13	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152276700C>A	ENST00000368799.1	-	3	10697	c.10662G>T	c.(10660-10662)agG>agT	p.R3554S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3554	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)			ACCCAGACCACCTCTCAGAGT	0.592									Ichthyosis																												p.R3554S		.											.	FLG-106	0			c.G10662T						.						153	176	169					1																	152276700		2203	4297	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGACCACCTCTCA	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.10662G>T	1.37:g.152276700C>A	ENSP00000357789:p.Arg3554Ser	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	403	51	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132287	0.21041	.	.	ENSG00000143631	ENST00000368799	T	0.02446	4.29	2.05	-0.735	0.11137	.	.	.	.	.	T	0.02571	0.0078	M	0.66506	2.035	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.30937	-0.9961	9	0.08381	T	0.77	.	4.697	0.12809	0.0:0.448:0.0:0.552	.	3554	P20930	FILA_HUMAN	S	3554	ENSP00000357789:R3554S	ENSP00000357789:R3554S	R	-	3	2	FLG	150543324	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.000000	0.01466	-0.184000	0.10567	0.398000	0.26397	AGG	.		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276700	C	A	152276700	3	1	31	1	0	0	0	0	1	0	0	0	5944	506	18	3	1527	3	FLG	1	152276700	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	88389	152276700	96973921	110	5662											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	152280069	152280069	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctccagtgctggtcccGgtccgtccatgggcggactc	12	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152280069G>T	ENST00000368799.1	-	3	7328	c.7293C>A	c.(7291-7293)acC>acA	p.T2431T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2431	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)			TGCTGGTCCCGGTCCGTCCAT	0.592									Ichthyosis																												p.T2431T		.											.	FLG-106	0			c.C7293A						.						263	243	250					1																	152280069		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGTCCCGGTCCGT	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.7293C>A	1.37:g.152280069G>T		Somatic	331	1		WXS	Illumina GAIIx	Phase_I	604	308	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280069	G	T	152280069	2	4	31	1	0	0	0	0	0	0	0	1	5944	1103	39	2		2	FLG	1	152280069	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3369	152280069	96970552	111	5663											
FLG	2312	bcgsc.ca	37	chr1	152281563	152281563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagcagacccagaccaCctctcagagtcttctgagtg	10	13	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152281563C>A	ENST00000368799.1	-	3	5834	c.5799G>T	c.(5797-5799)agG>agT	p.R1933S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1933	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)			ACCCAGACCACCTCTCAGAGT	0.572									Ichthyosis																												p.R1933S		.											.	FLG-106	0			c.G5799T						.						215	213	214					1																	152281563		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGACCACCTCTCA	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.5799G>T	1.37:g.152281563C>A	ENSP00000357789:p.Arg1933Ser	Somatic	335	2		WXS	Illumina GAIIx	Phase_I	525	64	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|C	10.82|10.82	1.459286|1.459286	0.26248|0.26248	.|.	.|.	ENSG00000143631|ENSG00000143631	ENST00000271820|ENST00000368799	.|T	.|0.02446	.|4.29	3.01|3.01	-6.03|-6.03	0.02185|0.02185	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00906	.|0.0030	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	.|B	.|0.26935	.|0.164	.|B	.|0.24701	.|0.055	.|T	.|0.46470	.|-0.9189	.|9	.|0.09338	.|T	.|0.73	.|.	6.4599|6.4599	0.21950|0.21950	0.0:0.5386:0.1676:0.2938|0.0:0.5386:0.1676:0.2938	.|.	.|1933	.|P20930	.|FILA_HUMAN	.|S	-1|1933	.|ENSP00000357789:R1933S	.|ENSP00000357789:R1933S	.|R	-|-	.|3	.|2	FLG|FLG	150548187|150548187	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.959000|-0.959000	0.03853|0.03853	-1.299000|-1.299000	0.02344|0.02344	-0.225000|-0.225000	0.12378|0.12378	.|AGG	.		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152281563	C	A	152281563	3	1	31	1	0	0	0	0	1	0	0	0	5944	506	18	3	6390	3	FLG	1	152281563	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1494	152281563	96969058	112	5664											
FLG	2312	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	152283067	152283067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacgtccagagctttccCctgactggccacgtgcggac	11	14	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152283067C>A	ENST00000368799.1	-	3	4330	c.4295G>T	c.(4294-4296)gGg>gTg	p.G1432V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1432	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)			AGAGCTTTCCCCTGACTGGCC	0.567									Ichthyosis																												p.G1432V		.											.	FLG-106	0			c.G4295T						.						196	196	196					1																	152283067		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTTTCCCCTGACT	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.4295G>T	1.37:g.152283067C>A	ENSP00000357789:p.Gly1432Val	Somatic	236	1		WXS	Illumina GAIIx	Phase_I	442	116	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838097	0.16891	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.36	1.41	0.22369	.	.	.	.	.	T	0.01254	0.0041	M	0.71581	2.175	0.09310	N	1	D	0.69078	0.997	P	0.48738	0.588	T	0.49143	-0.8970	9	0.28530	T	0.3	.	5.2376	0.15454	0.0:0.8211:0.0:0.1789	.	1432	P20930	FILA_HUMAN	V	1432	ENSP00000357789:G1432V	ENSP00000357789:G1432V	G	-	2	0	FLG	150549691	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.237000	0.08990	0.326000	0.23384	-0.300000	0.09419	GGG	.		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283067	C	A	152283067	3	1	31	1	0	0	0	0	1	0	0	0	5944	623	22	3	7894	3	FLG	1	152283067	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1504	152283067	96967554	113	5665											
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	152323875	152323875	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactctccatgttgagatctGgcttggccataagtgtgtcc	11	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152323875G>T	ENST00000388718.5	-	3	6459	c.6387C>A	c.(6385-6387)gcC>gcA	p.A2129A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2129					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)			GTTGAGATCTGGCTTGGCCAT	0.527																																					p.A2129A		.											.	FLG2-151	0			c.C6387A						.						448	415	426					1																	152323875		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			AGATCTGGCTTGG	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.6387C>A	1.37:g.152323875G>T		Somatic	341	1		WXS	Illumina GAIIx	Phase_I	516	218	NM_001014342	0	0	0	0	0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152323875	G	T	152323875	2	4	31	1	0	0	0	0	0	0	0	1	5945	1335	47	3		3	FLG2	1	152323875	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	40808	152323875	96926746	114	5666			1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152326364	152326364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatcctgactttgggtAgtgagatccagcttgtgtgt	14	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152326364A>T	ENST00000388718.5	-	3	3970	c.3898T>A	c.(3898-3900)Tac>Aac	p.Y1300N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1300					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)			GACTTTGGGTAGTGAGATCCA	0.468																																					p.Y1300N		.											.	FLG2-151	0			c.T3898A						.						438	387	404					1																	152326364		2203	4300	6503	SO:0001583	missense	388698	exon3			TTGGGTAGTGAGA	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.3898T>A	1.37:g.152326364A>T	ENSP00000373370:p.Tyr1300Asn	Somatic	401	1		WXS	Illumina GAIIx	Phase_I	715	182	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	5.592	0.294084	0.10567	.	.	ENSG00000143520	ENST00000388718	T	0.21734	1.99	3.08	-0.423	0.12325	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.24974	0.057	T	0.45498	-0.9257	9	0.25751	T	0.34	0.0241	2.9922	0.05987	0.3022:0.2376:0.4602:0.0	.	1300	Q5D862	FILA2_HUMAN	N	1300	ENSP00000373370:Y1300N	ENSP00000373370:Y1300N	Y	-	1	0	FLG2	150592988	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	0.385000	0.20685	0.150000	0.19136	0.165000	0.16767	TAC	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152326364	A	T	152326364	3	4	31	1	0	0	0	0	1	0	0	0	5945	420	15	5	3281	5	FLG2	1	152326364	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2489	152326364	96924257	115	5667			1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	ucsc.edu;bcgsc.ca	37	chr1	152326656	152326656	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatattggccaaatccagtGgactgacctgagtcagatat	9	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152326656G>T	ENST00000388718.5	-	3	3678	c.3606C>A	c.(3604-3606)tcC>tcA	p.S1202S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1202	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAATCCAGTGGACTGACCTG	0.483																																					p.S1202S		.											.	FLG2-151	0			c.C3606A						.						116	114	115					1																	152326656		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			TCCAGTGGACTGA	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.3606C>A	1.37:g.152326656G>T		Somatic	194	2		WXS	Illumina GAIIx	Phase_I	275	125	NM_001014342	0	0	0	0	0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152326656	G	T	152326656	2	4	31	1	0	0	0	0	0	0	0	1	5945	1335	47	3		3	FLG2	1	152326656	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	292	152326656	96923965	116	5668			1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	bcgsc.ca	37	chr1	152327047	152327047	+	Frame_Shift_Del	DEL	C	C	-													gttggccatagctagactgaCgtgatctagactcatattgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152327047delC	ENST00000388718.5	-	3	3287	c.3215delG	c.(3214-3216)cgtfs	p.R1072fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.473																																					p.R1072fs		.											.	FLG2-151	0			c.3215delG						.						319	317	317					1																	152327047		2203	4300	6503	SO:0001589	frameshift_variant	388698	exon3			GACTGACGTGATC	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.3215delG	1.37:g.152327047delC	ENSP00000373370:p.Arg1072fs	Somatic	322	1		WXS	Illumina GAIIx	Phase_I	533	197	NM_001014342	0	0	0	0	0	Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		-	152327047	C	-	152327047	7	5	31	1	0	1	0	1	0	0	0	0	5945	536	19	0	3964	0	FLG2	1	152327047	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	391	152327047	96923574	117	5669	44	2	1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	bcgsc.ca	37	chr1	152327048	152327048	+	Missense_Mutation	SNP	G	G	T													ttggccatagctagactgacGtgatctagactcatattgtc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152327048G>T	ENST00000388718.5	-	3	3286	c.3214C>A	c.(3214-3216)Cgt>Agt	p.R1072S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACGTGATCTAGAC	0.468																																					p.R1072S		.											.	FLG2-151	0			c.C3214A						.						317	315	316					1																	152327048		2203	4300	6503	SO:0001583	missense	388698	exon3			ACTGACGTGATCT	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.3214C>A	1.37:g.152327048G>T	ENSP00000373370:p.Arg1072Ser	Somatic	318	2		WXS	Illumina GAIIx	Phase_I	529	210	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698434	0.03279	.	.	ENSG00000143520	ENST00000388718	T	0.15718	2.4	4.09	-0.188	0.13264	.	.	.	.	.	T	0.01558	0.0050	N	0.05383	-0.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48031	-0.9070	9	0.09084	T	0.74	.	5.0557	0.14531	0.0:0.4679:0.332:0.2001	.	1072	Q5D862	FILA2_HUMAN	S	1072	ENSP00000373370:R1072S	ENSP00000373370:R1072S	R	-	1	0	FLG2	150593672	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-4.055000	0.00304	-0.376000	0.07943	-1.211000	0.01629	CGT	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152327048	G	T	152327048	3	4	31	1	0	0	0	0	1	0	0	0	5945	1145	40	2	3965	2	FLG2	1	152327048	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1	152327048	96923573	118	5670	44	2	1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	broad.mit.edu;bcgsc.ca	37	chr1	152328724	152328724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccaaaaccagaggattgtCctgagacagacccatgctgt	10	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152328724C>T	ENST00000388718.5	-	3	1610	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	513	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTGTCCTGAGACAGA	0.522																																					p.G513E		.											.	FLG2-151	0			c.G1538A						.						235	233	234					1																	152328724		2203	4300	6503	SO:0001583	missense	388698	exon3			GATTGTCCTGAGA	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.1538G>A	1.37:g.152328724C>T	ENSP00000373370:p.Gly513Glu	Somatic	273	1		WXS	Illumina GAIIx	Phase_I	423	41	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467031	0.43839	.	.	ENSG00000143520	ENST00000388718	T	0.05081	3.5	4.38	4.38	0.52667	.	.	.	.	.	T	0.05502	0.0145	L	0.47716	1.5	0.09310	N	1	D	0.62365	0.991	P	0.52598	0.703	T	0.38222	-0.9671	9	0.21014	T	0.42	-5.3476	14.5137	0.67804	0.0:1.0:0.0:0.0	.	513	Q5D862	FILA2_HUMAN	E	513	ENSP00000373370:G513E	ENSP00000373370:G513E	G	-	2	0	FLG2	150595348	0.001000	0.12720	0.011000	0.14972	0.025000	0.11179	0.911000	0.28584	2.283000	0.76528	0.650000	0.86243	GGA	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152328724	C	T	152328724	3	4	31	1	0	0	0	0	1	0	0	0	5945	855	30	3	5641	3	FLG2	1	152328724	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1676	152328724	96921897	119	5671			1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	152328752	152328752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacccatgctgtccaaagcCagaggactgacctgagcctg	11	13	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152328752C>A	ENST00000388718.5	-	3	1582	c.1510G>T	c.(1510-1512)Ggc>Tgc	p.G504C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	504	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCAAAGCCAGAGGACTGA	0.522																																					p.G504C		.											.	FLG2-151	0			c.G1510T						.						229	229	229					1																	152328752		2203	4300	6503	SO:0001583	missense	388698	exon3			CAAAGCCAGAGGA	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.1510G>T	1.37:g.152328752C>A	ENSP00000373370:p.Gly504Cys	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	409	32	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287427	0.23478	.	.	ENSG00000143520	ENST00000388718	T	0.24723	1.84	4.56	1.35	0.21983	.	.	.	.	.	T	0.17789	0.0427	N	0.26042	0.785	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.06954	-1.0798	9	0.44086	T	0.13	-0.2424	7.6591	0.28392	0.0:0.6713:0.0:0.3287	.	504	Q5D862	FILA2_HUMAN	C	504	ENSP00000373370:G504C	ENSP00000373370:G504C	G	-	1	0	FLG2	150595376	0.000000	0.05858	0.046000	0.18839	0.043000	0.13939	-2.136000	0.01305	0.506000	0.28125	0.655000	0.94253	GGC	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152328752	C	A	152328752	3	1	31	1	0	0	0	0	1	0	0	0	5945	594	21	3	5669	3	FLG2	1	152328752	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	28	152328752	96921869	120	5672			1	29		8	7	5837	N	G_C_A	9.799779e-06
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152329711	152329711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatgaatgaccacagctgGacctgtggtatcttttctga	9	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152329711G>A	ENST00000388718.5	-	3	623	c.551C>T	c.(550-552)tCc>tTc	p.S184F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	184	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACAGCTGGACCTGTGGTA	0.468																																					p.S184F		.											.	FLG2-151	0			c.C551T						.						185	190	188					1																	152329711		2203	4300	6503	SO:0001583	missense	388698	exon3			CAGCTGGACCTGT	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.551C>T	1.37:g.152329711G>A	ENSP00000373370:p.Ser184Phe	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	190	43	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.698	0.692565	0.15039	.	.	ENSG00000143520	ENST00000388718	T	0.01005	5.45	5.44	4.52	0.55395	.	.	.	.	.	T	0.00637	0.0021	M	0.61703	1.905	0.09310	N	0.999991	P	0.41673	0.759	B	0.38327	0.271	T	0.48139	-0.9061	9	0.72032	D	0.01	-6.9752	10.5496	0.45081	0.0909:0.0:0.9091:0.0	.	184	Q5D862	FILA2_HUMAN	F	184	ENSP00000373370:S184F	ENSP00000373370:S184F	S	-	2	0	FLG2	150596335	0.883000	0.30277	0.256000	0.24389	0.004000	0.04260	2.929000	0.48916	1.271000	0.44313	0.557000	0.71058	TCC	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152329711	G	A	152329711	3	1	31	1	0	0	0	0	1	0	0	0	5945	1174	41	3	6628	3	FLG2	1	152329711	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	959	152329711	96920910	121	5673			1	29		8	7	5837	N	G_C_A	9.799779e-06
SPRR2D	6703	broad.mit.edu;mdanderson.org	37	chr1	153012806	153012806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggctgcttgcactgcTgctgttgataagacatcctg	13	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153012806T>A	ENST00000368757.1	-	2	297	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	SPRR2D_ENST00000368756.1_Missense_Mutation_p.Q6L|SPRR2D_ENST00000368758.3_Missense_Mutation_p.Q6L|SPRR2D_ENST00000360379.3_Missense_Mutation_p.Q6L			P22532	SPR2D_HUMAN	small proline-rich protein 2D	6					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGCACTGCTGCTGTTGATA	0.557																																					p.Q6L		.											.	SPRR2D-68	0			c.A17T						.						27	26	27					1																	153012806		2177	4260	6437	SO:0001583	missense	6703	exon2			CACTGCTGCTGTT	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.17A>T	1.37:g.153012806T>A	ENSP00000357746:p.Gln6Leu	Somatic	34	1		WXS	Illumina GAIIx	Phase_I	73	33	NM_006945	0	0	0	0	0	A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	37	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791917	0.31685	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.82	3.82	0.43975	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.27930	N	0.937915	P	0.50819	0.939	P	0.47206	0.541	T	0.07443	-1.0772	8	0.87932	D	0	.	9.2596	0.37603	0.0:0.0:0.0:1.0	.	6	P22532	SPR2D_HUMAN	L	6	ENSP00000353542:Q6L;ENSP00000357747:Q6L;ENSP00000357746:Q6L;ENSP00000357745:Q6L	ENSP00000353542:Q6L	Q	-	2	0	SPRR2D	151279430	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.264000	0.43302	1.503000	0.48686	0.374000	0.22700	CAG	.		0.557	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			A	153012806	T	A	153012806	3	1	31	1	0	0	0	0	1	0	0	0	15146	1580	55	5	205	5	SPRR2D	1	153012806	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	683095	153012806	96237815	122	5674											
LOR	4014	hgsc.bcm.edu	37	chr1	153233804	153233804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccgggggcggctccGgctgcttctccagcggtggg	17	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153233804G>T	ENST00000368742.3	+	2	436	c.379G>T	c.(379-381)Ggc>Tgc	p.G127C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	127					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggcggctccggctgcttctc	0.781																																					p.G127C		.											.	LOR-90	0			c.G379T						.						1	1	1					1																	153233804		326	891	1217	SO:0001583	missense	4014	exon2			GGCTCCGGCTGCT	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.379G>T	1.37:g.153233804G>T	ENSP00000357731:p.Gly127Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Missense_Mutation	SNP	ENST00000368742.3	37	CCDS30870.1	.	.	.	.	.	.	.	.	.	.	G	1.626	-0.520270	0.04171	.	.	ENSG00000203782	ENST00000368742;ENST00000392652	T	0.50277	0.75	3.96	-0.484	0.12071	.	3.826540	0.01010	N	0.003812	T	0.18299	0.0439	L	0.36672	1.1	0.09310	N	1	P	0.37141	0.584	B	0.36808	0.233	T	0.16600	-1.0397	10	0.87932	D	0	-4.385	3.6488	0.08195	0.3086:0.0:0.5163:0.1751	.	127	P23490	LORI_HUMAN	C	127	ENSP00000357731:G127C	ENSP00000357731:G127C	G	+	1	0	LOR	151500428	0.596000	0.26866	0.001000	0.08648	0.049000	0.14656	1.513000	0.35823	-0.008000	0.14320	0.462000	0.41574	GGC	.		0.781	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		T	153233804	G	T	153233804	3	4	31	1	0	0	0	0	1	0	0	0	8932	1116	39	2	381	2	LOR	1	153233804	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	220998	153233804	96016817	123	5675											
PGLYRP4	57115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	153303417	153303417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgcagcattgggtggTatacctgcaaaacacagcag	12	9	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153303417T>C	ENST00000359650.5	-	9	1012	c.948A>G	c.(946-948)atA>atG	p.I316M	RNU6-160P_ENST00000384591.1_RNA|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.I312M	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	316					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTGGGTGGTATACCTGCAA	0.527																																					p.I316M		.											.	PGLYRP4-94	0			c.A948G						.						101	89	93					1																	153303417		2203	4300	6503	SO:0001583	missense	57115	exon9			GGGTGGTATACCT	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.948A>G	1.37:g.153303417T>C	ENSP00000352672:p.Ile316Met	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	193	20	NM_020393	0	0	0	0	0	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	T	6.705	0.498678	0.12762	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.13307	2.6;2.6	3.37	-0.611	0.11601	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	2.375720	0.02011	N	0.047015	T	0.02888	0.0086	N	0.20483	0.58	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.26517	0.042;0.07	T	0.42189	-0.9466	10	0.49607	T	0.09	-11.215	3.1844	0.06596	0.2527:0.0:0.5049:0.2425	.	312;316	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	312;316	ENSP00000357728:I312M;ENSP00000352672:I316M	ENSP00000352672:I316M	I	-	3	3	PGLYRP4	151570041	0.000000	0.05858	0.005000	0.12908	0.807000	0.45602	-1.258000	0.02863	-0.199000	0.10317	-0.648000	0.03929	ATA	.		0.527	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		C	153303417	T	C	153303417	3	2	31	1	0	0	0	0	1	0	0	0	11835	1628	57	4	177	4	PGLYRP4	1	153303417	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	69613	153303417	95947204	124	5676											
FAM189B	10712	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155217919	155217919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaacgagtgaccaggccCcgacctggccagctgccctt	12	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:155217919C>A	ENST00000361361.2	-	11	2264	c.1755G>T	c.(1753-1755)cgG>cgT	p.R585R	FAM189B_ENST00000368368.3_Silent_p.R567R|FAM189B_ENST00000350210.2_Silent_p.R489R|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	585						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGACCAGGCCCCGACCTGGCC	0.627																																					p.R585R		.											.	FAM189B-154	0			c.G1755T						.						29	33	32					1																	155217919		2203	4300	6503	SO:0001819	synonymous_variant	10712	exon11			CAGGCCCCGACCT	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1755G>T	1.37:g.155217919C>A		Somatic	158	1		WXS	Illumina GAIIx	Phase_I	273	141	NM_006589	0	0	0	0	0	B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	ENST00000361361.2	37	CCDS1103.1																																																																																			.		0.627	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		A	155217919	C	A	155217919	2	1	31	1	0	0	0	0	0	0	0	1	5536	610	22	3		3	FAM189B	1	155217919	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1914502	155217919	94032702	125	5677											
MEX3A	92312	broad.mit.edu	37	chr1	156046986	156046986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtcggagtagcggctAtcgattgctgcgtcggggct	17	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156046986A>T	ENST00000532414.2	-	2	941	c.942T>A	c.(940-942)gaT>gaA	p.D314E	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	314						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTAGCGGCTATCGATTGCTG	0.652																																					p.D314E		.											.	MEX3A-158	0			c.T942A						.						66	79	74					1																	156046986		2023	4187	6210	SO:0001583	missense	92312	exon2			GCGGCTATCGATT	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.942T>A	1.37:g.156046986A>T	ENSP00000432845:p.Asp314Glu	Somatic	47	1		WXS	Illumina GAIIx	Phase_I	144	15	NM_001093725	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	A	5.632	0.301361	0.10678	.	.	ENSG00000254726	ENST00000532414	T	0.44482	0.92	5.59	-3.91	0.04168	.	0.219797	0.36374	N	0.002636	T	0.05273	0.0140	N	0.12746	0.255	0.29508	N	0.854398	B	0.09022	0.002	B	0.11329	0.006	T	0.30909	-0.9962	10	0.16420	T	0.52	.	3.9566	0.09393	0.5867:0.1525:0.1622:0.0985	.	314	A1L020	MEX3A_HUMAN	E	314	ENSP00000432845:D314E	ENSP00000432845:D314E	D	-	3	2	MEX3A	154313610	0.991000	0.36638	0.825000	0.32803	0.190000	0.23558	0.349000	0.20055	-0.527000	0.06374	0.260000	0.18958	GAT	.		0.652	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		T	156046986	A	T	156046986	3	4	31	1	0	0	0	0	1	0	0	0	9547	446	16	5	624	5	MEX3A	1	156046986	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	829067	156046986	93203635	126	5678											
TMEM79	84283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156255405	156255405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcggcccgtgccttcGtgcctattgacctacagtgc	11	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156255405G>T	ENST00000405535.2	+	2	559	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	TMEM79_ENST00000295694.5_Missense_Mutation_p.V130L|TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000357501.2_Intron|SMG5_ENST00000368267.5_5'Flank	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	130					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCGTGCCTTCGTGCCTATTGA	0.607																																					p.V130L		.											.	TMEM79-90	0			c.G388T						.						65	66	65					1																	156255405		2203	4300	6503	SO:0001583	missense	84283	exon2			GCCTTCGTGCCTA	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.388G>T	1.37:g.156255405G>T	ENSP00000384748:p.Val130Leu	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	299	35	NM_032323	0	0	0	0	0	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192097	0.78902	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.44482	0.92;0.92	5.82	5.82	0.92795	.	0.285526	0.34777	N	0.003689	T	0.29945	0.0749	L	0.36672	1.1	0.32161	N	0.582986	P	0.48230	0.907	P	0.47891	0.56	T	0.07252	-1.0782	10	0.33940	T	0.23	-10.7194	16.8254	0.85929	0.0:0.0:1.0:0.0	.	130	Q9BSE2	TMM79_HUMAN	L	130	ENSP00000295694:V130L;ENSP00000384748:V130L	ENSP00000295694:V130L	V	+	1	0	TMEM79	154522029	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.325000	0.43840	2.745000	0.94114	0.561000	0.74099	GTG	.		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		T	156255405	G	T	156255405	3	4	31	1	0	0	0	0	1	0	0	0	16250	1145	40	2	390	2	TMEM79	1	156255405	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	208419	156255405	92995216	127	5679											
C1orf182	128229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156316635	156316635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagacccagctcgcCcaacaacagatggctgtttt	8	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156316635C>T	ENST00000368255.3	+	4	600	c.240C>T	c.(238-240)gcC>gcT	p.A80A	TSACC_ENST00000368252.1_Silent_p.A80A|TSACC_ENST00000481479.1_Missense_Mutation_p.P77S|TSACC_ENST00000470342.1_Missense_Mutation_p.P77S|TSACC_ENST00000368254.1_Silent_p.A80A|TSACC_ENST00000466306.1_Missense_Mutation_p.P77S|TSACC_ENST00000368251.1_Silent_p.A80A|TSACC_ENST00000368253.2_Silent_p.A80A	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	80						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CCCAGCTCGCCCAACAACAGA	0.502																																					p.A80A		.											.	.	0			c.C240T						.						164	164	164					1																	156316635		2203	4300	6503	SO:0001819	synonymous_variant	128229	exon4			GCTCGCCCAACAA	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"SSTK-interacting protein"		"chromosome 1 open reading frame 182"	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.240C>T	1.37:g.156316635C>T		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	315	89	NM_144627	0	0	0	0	0	D3DVB9	Silent	SNP	ENST00000368255.3	37	CCDS1141.1																																																																																			.		0.502	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		T	156316635	C	T	156316635	2	4	31	1	0	0	0	0	0	0	0	1	2025	610	22	3		3	C1orf182	1	156316635	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	61230	156316635	92933986	128	5680											
SH2D2A	9047	ucsc.edu;bcgsc.ca	37	chr1	156779504	156779504	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggactggggcttgcccctgTttgatgattgggctgtactg	16	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156779504T>C	ENST00000368199.3	-	6	816	c.663A>G	c.(661-663)aaA>aaG	p.K221K	SH2D2A_ENST00000368198.3_Silent_p.K203K|SH2D2A_ENST00000392306.2_Silent_p.K231K	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	221	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCCTGTTTGATGATTG	0.602																																					p.K231K		.											.	SH2D2A-90	0			c.A693G						.						125	120	122					1																	156779504		2203	4300	6503	SO:0001819	synonymous_variant	9047	exon6			CCCCTGTTTGATG	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.663A>G	1.37:g.156779504T>C		Somatic	93	2		WXS	Illumina GAIIx	Phase_I	136	37	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																			.		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		C	156779504	T	C	156779504	2	2	31	1	0	0	0	0	0	0	0	1	14277	1722	60	4		4	SH2D2A	1	156779504	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	462869	156779504	92471117	129	5681											
FCRL4	83417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	157559043	157559043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtggggagccccgggcCtggcatctgtacagtccaga	14	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:157559043C>T	ENST00000271532.1	-	3	393	c.258G>A	c.(256-258)caG>caA	p.Q86Q	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	86	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCCCGGGCCTGGCATCTGT	0.483																																					p.Q86Q		.											.	FCRL4-229	0			c.G258A						.						83	85	84					1																	157559043		2203	4300	6503	SO:0001819	synonymous_variant	83417	exon3			CCGGGCCTGGCAT	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.258G>A	1.37:g.157559043C>T		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	280	140	NM_031282	0	0	0	0	0	Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	CCDS1166.1																																																																																			.		0.483	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157559043	C	T	157559043	2	4	31	1	0	0	0	0	0	0	0	1	5819	680	24	3		3	FCRL4	1	157559043	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	779539	157559043	91691578	130	5682											
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	157804410	157804410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccacctttgcggcccggaGgctccagcctgtctggcaca	11	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:157804410G>T	ENST00000368174.4	-	4	601	c.505C>A	c.(505-507)Ctc>Atc	p.L169I	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	169	SRCR 2. {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)			GCGGCCCGGAGGCTCCAGCCT	0.607																																					p.L169I		.											.	CD5L-91	0			c.C505A						.						87	85	86					1																	157804410		2203	4300	6503	SO:0001583	missense	922	exon4			CCCGGAGGCTCCA	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.505C>A	1.37:g.157804410G>T	ENSP00000357156:p.Leu169Ile	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	122	30	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561913	0.27915	.	.	ENSG00000073754	ENST00000368174	T	0.36878	1.23	5.13	2.11	0.27256	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.181718	0.24864	N	0.034984	T	0.22003	0.0530	L	0.45698	1.435	0.21652	N	0.999609	P	0.49358	0.923	P	0.57009	0.811	T	0.06267	-1.0836	10	0.34782	T	0.22	.	3.4701	0.07563	0.1997:0.0:0.4547:0.3457	.	169	O43866	CD5L_HUMAN	I	169	ENSP00000357156:L169I	ENSP00000357156:L169I	L	-	1	0	CD5L	156071034	0.000000	0.05858	0.213000	0.23690	0.057000	0.15508	-0.251000	0.08818	0.267000	0.21916	0.655000	0.94253	CTC	.		0.607	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		T	157804410	G	T	157804410	3	4	31	1	0	0	0	0	1	0	0	0	3034	1000	35	3	550	3	CD5L	1	157804410	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	245367	157804410	91446211	131	5683											
CD1E	913	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158325660	158325660	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccccagtcctggcccTggccgtctgcagcttgtgtg	14	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158325660T>A	ENST00000368167.3	+	4	908	c.669T>A	c.(667-669)ccT>ccA	p.P223P	CD1E_ENST00000368166.3_Silent_p.P34P|CD1E_ENST00000434258.1_Silent_p.P221P|CD1E_ENST00000368157.1_Silent_p.P34P|CD1E_ENST00000368161.3_Silent_p.P223P|CD1E_ENST00000368154.1_Silent_p.P34P|CD1E_ENST00000368163.3_Silent_p.P223P|CD1E_ENST00000368160.3_Silent_p.P223P|CD1E_ENST00000368165.3_Silent_p.P133P|CD1E_ENST00000444681.2_Silent_p.P124P|CD1E_ENST00000368156.1_Silent_p.P133P|CD1E_ENST00000368164.3_Silent_p.P34P|CD1E_ENST00000452291.2_Silent_p.P34P|CD1E_ENST00000368155.3_Silent_p.P133P	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	223	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCCTGGCCCTGGCCGTCTGC	0.587																																					p.P223P		.											.	CD1E-93	0			c.T669A						.						47	48	47					1																	158325660		2203	4300	6503	SO:0001819	synonymous_variant	913	exon4			TGGCCCTGGCCGT	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.669T>A	1.37:g.158325660T>A		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	216	55	NM_001042585	0	0	0	0	0	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1																																																																																			.		0.587	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		A	158325660	T	A	158325660	2	1	31	1	0	0	0	0	0	0	0	1	2985	1567	55	5		5	CD1E	1	158325660	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	521250	158325660	90924961	132	5684											
OR10T2	128360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	158368349	158368349	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacaggcattccaagaactCttttcaatgcagtttttacc	5	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158368349C>A	ENST00000334438.1	-	1	907	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCCAAGAACTCTTTTCAATGC	0.368																																					p.R303I		.											.	OR10T2-70	0			c.G908T						.						39	36	37					1																	158368349		2203	4300	6503	SO:0001583	missense	128360	exon1			AGAACTCTTTTCA	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.908G>T	1.37:g.158368349C>A	ENSP00000334115:p.Arg303Ile	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	153	16	NM_001004475	0	0	0	0	0	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146215	0.37923	.	.	ENSG00000186306	ENST00000334438	T	0.41065	1.01	4.74	0.684	0.18003	.	0.307604	0.23317	N	0.049490	T	0.28896	0.0717	M	0.88704	2.975	0.32215	N	0.576029	P	0.41159	0.74	B	0.37047	0.24	T	0.16630	-1.0396	10	0.87932	D	0	.	8.3965	0.32559	0.0:0.5835:0.0:0.4165	.	303	Q8NGX3	O10T2_HUMAN	I	303	ENSP00000334115:R303I	ENSP00000334115:R303I	R	-	2	0	OR10T2	156634973	0.000000	0.05858	0.529000	0.27951	0.822000	0.46500	-1.291000	0.02775	0.221000	0.20879	0.655000	0.94253	AGA	.		0.368	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		A	158368349	C	A	158368349	3	1	31	1	0	0	0	0	1	0	0	0	10958	913	32	3	38	3	OR10T2	1	158368349	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	42689	158368349	90882272	133	5685											
OR10T2	128360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158369178	158369178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagatgacaaaaagcaGcagctggagctcccccaggc	11	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158369178G>T	ENST00000334438.1	-	1	78	c.79C>A	c.(79-81)Ctg>Atg	p.L27M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAAAAAGCAGCAGCTGGAGC	0.488																																					p.L27M		.											.	OR10T2-70	0			c.C79A						.						37	41	40					1																	158369178		2203	4300	6503	SO:0001583	missense	128360	exon1			AAAGCAGCAGCTG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.79C>A	1.37:g.158369178G>T	ENSP00000334115:p.Leu27Met	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	105	60	NM_001004475	0	0	0	0	0	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427391	0.43122	.	.	ENSG00000186306	ENST00000334438	T	0.00637	6.05	4.65	2.77	0.32553	.	0.000000	0.30227	U	0.010104	T	0.00356	0.0011	L	0.58354	1.805	0.09310	N	1	P	0.38582	0.638	B	0.36666	0.23	T	0.49399	-0.8944	10	0.54805	T	0.06	.	7.5686	0.27894	0.2711:0.0:0.7289:0.0	.	27	Q8NGX3	O10T2_HUMAN	M	27	ENSP00000334115:L27M	ENSP00000334115:L27M	L	-	1	2	OR10T2	156635802	0.000000	0.05858	0.085000	0.20634	0.956000	0.61745	-0.250000	0.08830	0.564000	0.29238	0.591000	0.81541	CTG	.		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		T	158369178	G	T	158369178	3	4	31	1	0	0	0	0	1	0	0	0	10958	962	34	3	867	3	OR10T2	1	158369178	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	829	158369178	90881443	134	5686											
OR10K2	391107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158390612	158390612	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggccagggatgagaagccGaggaagatgacctctctcac	13	11	2	3	rs373065917		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158390612G>C	ENST00000314902.2	-	1	44	c.45C>G	c.(43-45)ctC>ctG	p.L15L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGAGAAGCCGAGGAAGATGA	0.512																																					p.L15L		.											.	OR10K2-69	0			c.C45G						.						64	54	57					1																	158390612		2203	4300	6503	SO:0001819	synonymous_variant	391107	exon1			GAAGCCGAGGAAG	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.45C>G	1.37:g.158390612G>C		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	184	53	NM_001004476	0	0	0	0	0		Silent	SNP	ENST00000314902.2	37	CCDS30896.1																																																																																			.		0.512	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		C	158390612	G	C	158390612	2	2	31	1	0	0	0	0	0	0	0	1	10953	1045	37	2		2	OR10K2	1	158390612	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	21434	158390612	90860009	135	5687											
OR10K1	391109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158435408	158435408	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcctcggcttctcatcCctggccaggctgcagcagct	11	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158435408C>G	ENST00000289451.2	+	1	137	c.57C>G	c.(55-57)tcC>tcG	p.S19S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCTTCTCATCCCTGGCCAGGC	0.507																																					p.S19S		.											.	OR10K1-69	0			c.C57G						.						104	90	95					1																	158435408		2203	4300	6503	SO:0001819	synonymous_variant	391109	exon1			CTCATCCCTGGCC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.57C>G	1.37:g.158435408C>G		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	282	75	NM_001004473	0	0	0	0	0	Q6IFS2	Silent	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																			.		0.507	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			G	158435408	C	G	158435408	2	3	31	1	0	0	0	0	0	0	0	1	10952	610	22	3		3	OR10K1	1	158435408	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	44796	158435408	90815213	136	5688											
OR10X1	128367	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158549327	158549327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgtgccaccaagtccCaagaagaagcacatctgtaa	8	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158549327C>A	ENST00000368150.1	-	1	362	c.363G>T	c.(361-363)ttG>ttT	p.L121F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACCAAGTCCCAAGAAGAAGC	0.473																																					p.L121F		.											.	OR10X1-69	0			c.G363T						.						99	101	100					1																	158549327		2203	4300	6503	SO:0001583	missense	128367	exon1			AAGTCCCAAGAAG	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.363G>T	1.37:g.158549327C>A	ENSP00000357132:p.Leu121Phe	Somatic	411	2		WXS	Illumina GAIIx	Phase_I	638	81	NM_001004477	0	0	0	0	0	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335477	0.24253	.	.	ENSG00000186400	ENST00000368150	T	0.00840	5.63	5.0	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35525	N	0.003148	T	0.00524	0.0017	N	0.11651	0.15	0.27406	N	0.954701	D	0.64830	0.994	P	0.61070	0.883	T	0.58662	-0.7597	10	0.36615	T	0.2	.	6.74	0.23431	0.215:0.6712:0.0:0.1137	.	121	Q8NGY0	O10X1_HUMAN	F	121	ENSP00000357132:L121F	ENSP00000357132:L121F	L	-	3	2	OR10X1	156815951	0.000000	0.05858	1.000000	0.80357	0.554000	0.35429	-0.896000	0.04114	1.172000	0.42781	0.557000	0.71058	TTG	.		0.473	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549327	C	A	158549327	3	1	31	1	0	0	0	0	1	0	0	0	10961	593	21	3	612	3	OR10X1	1	158549327	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	113919	158549327	90701294	137	5689											
OR10X1	128367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	158549352	158549353	+	Frame_Shift_Ins	INS	-	-	A													gaagcacatctgtaagctacINSaacctgtgactgaaatgctt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158549352_158549353insA	ENST00000368150.1	-	1	336_337	c.337_338insT	c.(337-339)tgtfs	p.C113fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	113						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)					CTGTAAGCTACAACCTGTGACT	0.485																																					p.C113fs		.											.	OR10X1-69	0			c.338_339insT						.																																			SO:0001589	frameshift_variant	128367	exon1			AAGCTACAACCTG	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.338dupT	1.37:g.158549354_158549354dupA	ENSP00000357132:p.Cys113fs	Somatic	370	0		WXS	Illumina GAIIx	Phase_I	563	61	NM_001004477	0	0	0	0	0	Q6IFR8	Frame_Shift_Ins	INS	ENST00000368150.1	37	CCDS30900.1																																																																																			.		0.485	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		A	158549353	-	A	158549352	7	5	31	1	0	1	1	0	0	0	0	0	10961	478	17	0	637	0	OR10X1	1	158549352	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	25	158549352	90701269	138	5690											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158589090	158589090	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcaaagttcttgacctgtCttgcctcttccttttgcagc	6	13	4	1	rs202169454		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158589090C>A	ENST00000368147.4	-	45	6632	c.6452G>T	c.(6451-6453)aGa>aTa	p.R2151I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2151					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)					CTTGACCTGTCTTGCCTCTTC	0.468																																					p.R2151I		.											.	SPTA1-142	0			c.G6452T						.						275	270	272					1																	158589090		2016	4177	6193	SO:0001583	missense	6708	exon45			ACCTGTCTTGCCT	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.6452G>T	1.37:g.158589090C>A	ENSP00000357129:p.Arg2151Ile	Somatic	300	0		WXS	Illumina GAIIx	Phase_I	414	43	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267759	0.95399	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68181	-0.16;-0.31	5.31	5.31	0.75309	.	0.000000	0.34932	N	0.003567	D	0.82930	0.5144	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85264	0.1052	10	0.72032	D	0.01	.	17.7367	0.88395	0.0:1.0:0.0:0.0	.	2151	P02549	SPTA1_HUMAN	I	2151;2148	ENSP00000357130:R2151I;ENSP00000357129:R2148I	ENSP00000357129:R2148I	R	-	2	0	SPTA1	156855714	1.000000	0.71417	0.927000	0.36925	0.996000	0.88848	6.989000	0.76219	2.779000	0.95612	0.591000	0.81541	AGA	C|0.999;T|0.001		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158589090	C	A	158589090	3	1	31	1	0	0	0	0	1	0	0	0	15163	913	32	3	839	3	SPTA1	1	158589090	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	39738	158589090	90661531	139	5691											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158590083	158590083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccagcaaacatttaaaGtctgcttgagccctagccag	8	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158590083G>T	ENST00000368147.4	-	44	6474	c.6294C>A	c.(6292-6294)gaC>gaA	p.D2098E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2098					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)					AACATTTAAAGTCTGCTTGAG	0.517																																					p.D2098E		.											.	SPTA1-142	0			c.C6294A						.						75	73	74					1																	158590083		1918	4124	6042	SO:0001583	missense	6708	exon44			TTTAAAGTCTGCT	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.6294C>A	1.37:g.158590083G>T	ENSP00000357129:p.Asp2098Glu	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	255	35	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101302	0.37048	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.62639	0.01;0.01	5.05	-0.261	0.12963	.	0.244291	0.21145	N	0.079401	T	0.33118	0.0852	L	0.35644	1.08	0.39713	D	0.971351	B	0.28850	0.225	B	0.43575	0.424	T	0.18241	-1.0343	10	0.17832	T	0.49	.	3.323	0.07057	0.4069:0.0:0.296:0.2971	.	2098	P02549	SPTA1_HUMAN	E	2098;2095	ENSP00000357130:D2098E;ENSP00000357129:D2095E	ENSP00000357129:D2095E	D	-	3	2	SPTA1	156856707	1.000000	0.71417	0.109000	0.21407	0.712000	0.41017	1.943000	0.40253	-0.197000	0.10350	0.585000	0.79938	GAC	.		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158590083	G	T	158590083	3	4	31	1	0	0	0	0	1	0	0	0	15163	1020	36	3	1001	3	SPTA1	1	158590083	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	993	158590083	90660538	140	5692											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158592778	158592778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataatttttttaaaccttctGtagaggcagctgtttctcca	6	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158592778G>C	ENST00000368147.4	-	43	6295	c.6115C>G	c.(6115-6117)Cag>Gag	p.Q2039E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2039					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)					TAAACCTTCTGTAGAGGCAGC	0.433																																					p.Q2039E		.											.	SPTA1-142	0			c.C6115G						.						134	133	133					1																	158592778		1864	4108	5972	SO:0001583	missense	6708	exon43			CCTTCTGTAGAGG	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.6115C>G	1.37:g.158592778G>C	ENSP00000357129:p.Gln2039Glu	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	121	27	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	4.201	0.035997	0.08148	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68181	-0.31;-0.31	4.78	2.82	0.32997	.	.	.	.	.	T	0.28433	0.0703	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.20438	-1.0275	9	0.18276	T	0.48	.	8.7649	0.34698	0.0:0.146:0.5535:0.3005	.	2039	P02549	SPTA1_HUMAN	E	2039;2036	ENSP00000357130:Q2039E;ENSP00000357129:Q2036E	ENSP00000357129:Q2036E	Q	-	1	0	SPTA1	156859402	0.992000	0.36948	0.038000	0.18304	0.015000	0.08874	0.941000	0.29005	0.564000	0.29238	0.655000	0.94253	CAG	.		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158592778	G	C	158592778	3	2	31	1	0	0	0	0	1	0	0	0	15163	1386	48	3	1184	3	SPTA1	1	158592778	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2695	158592778	90657843	141	5693											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158606464	158606464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgggccaccagctccccCtctaggcgtttgtgcttctt	9	15	3	0	rs542123296		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158606464C>A	ENST00000368147.4	-	37	5457	c.5277G>T	c.(5275-5277)gaG>gaT	p.E1759D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1759					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)					CCAGCTCCCCCTCTAGGCGTT	0.473																																					p.E1759D		.											.	SPTA1-142	0			c.G5277T						.						111	109	110					1																	158606464		1864	4100	5964	SO:0001583	missense	6708	exon37			CTCCCCCTCTAGG	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.5277G>T	1.37:g.158606464C>A	ENSP00000357129:p.Glu1759Asp	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	112	29	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047397	0.36085	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.57752	0.38;0.38	5.26	-9.42	0.00610	.	.	.	.	.	T	0.22936	0.0554	L	0.52823	1.66	0.29580	N	0.849266	B	0.13145	0.007	B	0.27262	0.078	T	0.22906	-1.0203	9	0.48119	T	0.1	.	10.4496	0.44513	0.0:0.4297:0.1493:0.421	.	1759	P02549	SPTA1_HUMAN	D	1759	ENSP00000357130:E1759D;ENSP00000357129:E1759D	ENSP00000357129:E1759D	E	-	3	2	SPTA1	156873088	0.010000	0.17322	0.023000	0.16930	0.829000	0.46940	-1.062000	0.03468	-2.497000	0.00513	-0.813000	0.03139	GAG	.		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158606464	C	A	158606464	3	1	31	1	0	0	0	0	1	0	0	0	15163	680	24	3	2046	3	SPTA1	1	158606464	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13686	158606464	90644157	142	5694											
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158653268	158653268	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctctgcttcaagggattGatgcttctgatatttcccct	7	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158653268G>T	ENST00000368147.4	-	3	463	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	95					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)					TCAAGGGATTGATGCTTCTGA	0.398																																					p.Q95K		.											.	SPTA1-142	0			c.C283A						.						201	177	185					1																	158653268		1859	4101	5960	SO:0001583	missense	6708	exon3			GGGATTGATGCTT	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.283C>A	1.37:g.158653268G>T	ENSP00000357129:p.Gln95Lys	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	155	60	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005021	0.35415	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.31247	1.5;1.5	6.17	-2.46	0.06461	.	0.536654	0.13974	N	0.349935	T	0.13756	0.0333	L	0.51853	1.615	0.35127	D	0.767568	B	0.14012	0.009	B	0.18263	0.021	T	0.32188	-0.9916	10	0.21014	T	0.42	.	19.2008	0.93711	0.0:0.1608:0.7731:0.0662	.	95	P02549	SPTA1_HUMAN	K	95	ENSP00000357130:Q95K;ENSP00000357129:Q95K	ENSP00000357129:Q95K	Q	-	1	0	SPTA1	156919892	1.000000	0.71417	0.011000	0.14972	0.764000	0.43329	1.349000	0.33998	-0.287000	0.09064	-0.913000	0.02753	CAA	.		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158653268	G	T	158653268	3	4	31	1	0	0	0	0	1	0	0	0	15163	1299	45	3	7176	3	SPTA1	1	158653268	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	46804	158653268	90597353	143	5695											
OR6K2	81448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158670301	158670301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtattcaactggaccaCtgtgatgatgaccaggtttc	11	8	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158670301C>A	ENST00000359610.2	-	1	185	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTGGACCACTGTGATGATG	0.438																																					p.V48L		.											.	OR6K2-69	0			c.G142T						.						111	105	107					1																	158670301		2203	4300	6503	SO:0001583	missense	81448	exon1			GGACCACTGTGAT	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.142G>T	1.37:g.158670301C>A	ENSP00000352626:p.Val48Leu	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	243	75	NM_001005279	0	0	0	0	0	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	6.618	0.482476	0.12581	.	.	ENSG00000196171	ENST00000359610	T	0.03004	4.08	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	N	0.002028	T	0.00754	0.0025	N	0.04959	-0.14	0.09310	N	0.999999	P	0.38582	0.638	B	0.32677	0.15	T	0.51458	-0.8703	10	0.14656	T	0.56	-9.7361	16.5301	0.84355	0.0:1.0:0.0:0.0	.	48	Q8NGY2	OR6K2_HUMAN	L	48	ENSP00000352626:V48L	ENSP00000352626:V48L	V	-	1	0	OR6K2	156936925	0.000000	0.05858	0.939000	0.37840	0.056000	0.15407	-0.740000	0.04861	2.392000	0.81423	0.655000	0.94253	GTG	.		0.438	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		A	158670301	C	A	158670301	3	1	31	1	0	0	0	0	1	0	0	0	11241	565	20	3	836	3	OR6K2	1	158670301	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	17033	158670301	90580320	144	5696											
OR6N1	128372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	158735697	158735697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcttcagctgcacaTacatggaaaggatgctccca	8	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158735697T>C	ENST00000335094.2	-	1	795	c.776A>G	c.(775-777)tAt>tGt	p.Y259C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAGCTGCACATACATGGAAAG	0.537																																					p.Y259C		.											.	OR6N1-69	0			c.A776G						.						181	169	173					1																	158735697		2203	4300	6503	SO:0001583	missense	128372	exon1			TGCACATACATGG	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.776A>G	1.37:g.158735697T>C	ENSP00000335535:p.Tyr259Cys	Somatic	213	1		WXS	Illumina GAIIx	Phase_I	368	178	NM_001005185	0	0	0	0	0	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088586	0.36855	.	.	ENSG00000197403	ENST00000335094	T	0.00295	8.25	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000971	T	0.00468	0.0015	M	0.91663	3.23	0.32968	D	0.521965	D	0.89917	1.0	D	0.97110	1.0	T	0.22103	-1.0226	10	0.87932	D	0	-11.6779	13.3553	0.60625	0.0:0.0:0.0:1.0	.	259	Q8NGY5	OR6N1_HUMAN	C	259	ENSP00000335535:Y259C	ENSP00000335535:Y259C	Y	-	2	0	OR6N1	157002321	0.996000	0.38824	1.000000	0.80357	0.487000	0.33371	3.665000	0.54532	1.969000	0.57287	0.533000	0.62120	TAT	.		0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		C	158735697	T	C	158735697	3	2	31	1	0	0	0	0	1	0	0	0	11245	1406	49	4	165	4	OR6N1	1	158735697	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	65396	158735697	90514924	145	5697											
OR6N2	81442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158747067	158747067	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatggccaggtatctatcaTaggccatggctgtaagaagg	12	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158747067T>A	ENST00000339258.1	-	1	358	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTATCTATCATAGGCCATGGC	0.493																																					p.Y120F		.											.	OR6N2-68	0			c.A359T						.						100	101	100					1																	158747067		2203	4300	6503	SO:0001583	missense	81442	exon1			CTATCATAGGCCA	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.359A>T	1.37:g.158747067T>A	ENSP00000344101:p.Tyr120Phe	Somatic	293	0		WXS	Illumina GAIIx	Phase_I	380	54	NM_001005278	0	0	0	0	0	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527786	0.27299	.	.	ENSG00000188340	ENST00000339258	T	0.01313	5.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34879	N	0.003601	T	0.01695	0.0054	L	0.28054	0.825	0.31868	N	0.620091	D	0.89917	1.0	D	0.80764	0.994	T	0.62996	-0.6735	10	0.28530	T	0.3	-15.2077	14.1215	0.65189	0.0:0.0:0.0:1.0	.	120	Q8NGY6	OR6N2_HUMAN	F	120	ENSP00000344101:Y120F	ENSP00000344101:Y120F	Y	-	2	0	OR6N2	157013691	0.062000	0.20869	1.000000	0.80357	0.986000	0.74619	0.839000	0.27586	2.169000	0.68431	0.528000	0.53228	TAT	.		0.493	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			A	158747067	T	A	158747067	3	1	31	1	0	0	0	0	1	0	0	0	11246	1406	49	5	597	5	OR6N2	1	158747067	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	11370	158747067	90503554	146	5698											
CADM3	57863	hgsc.bcm.edu	37	chr1	159141616	159141616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcgcctgctgctgggcgCccggcggggccaacctctcc	14	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159141616C>A	ENST00000368125.4	+	1	218	c.61C>A	c.(61-63)Ccc>Acc	p.P21T	CADM3_ENST00000368124.4_Missense_Mutation_p.P21T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	21					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTGCTGGGCGCCCGGCGGGGC	0.766																																					p.P21T		.											.	CADM3-92	0			c.C61A						.						2	3	3					1																	159141616		1658	3563	5221	SO:0001583	missense	57863	exon1			TGGGCGCCCGGCG	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.61C>A	1.37:g.159141616C>A	ENSP00000357107:p.Pro21Thr	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	72	11	NM_021189	0	0	0	0	0	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195844	0.58126	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.61274	0.12;0.59;4.15	3.72	3.72	0.42706	Immunoglobulin-like (1);	0.000000	0.30969	U	0.008515	T	0.51856	0.1699	L	0.29908	0.895	0.30138	N	0.804165	B;D;D	0.69078	0.0;0.994;0.997	B;P;D	0.78314	0.002;0.908;0.991	T	0.51068	-0.8752	10	0.87932	D	0	.	11.2365	0.48944	0.0:1.0:0.0:0.0	.	21;21;21	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	T	21	ENSP00000357106:P21T;ENSP00000357107:P21T;ENSP00000387802:P21T	ENSP00000357106:P21T	P	+	1	0	CADM3	157408240	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.532000	0.36029	2.078000	0.62432	0.551000	0.68910	CCC	.		0.766	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		A	159141616	C	A	159141616	3	1	31	1	0	0	0	0	1	0	0	0	2575	739	26	3	63	3	CADM3	1	159141616	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	394549	159141616	90109005	147	5699											
DARC	2532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159175764	159175764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttggggagtggctgccCtactgacactgcctgtcacc	12	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159175764C>T	ENST00000368122.2	+	2	1214	c.535C>T	c.(535-537)Cta>Tta	p.L179L	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.L181L|DARC_ENST00000537147.1_Silent_p.L179L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		179					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGTGGCTGCCCTACTGACACT	0.627																																					p.L181L		.											.	DARC-659	0			c.C541T						.						41	33	36					1																	159175764		2203	4300	6503	SO:0001819	synonymous_variant	2532	exon1			GCTGCCCTACTGA																												ENST00000368122.2:c.535C>T	1.37:g.159175764C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	184	37	NM_001122951	0	0	0	0	0	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	CCDS1183.1																																																																																			.		0.627	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			T	159175764	C	T	159175764	2	4	31	1	0	0	0	0	0	0	0	1	4249	680	24	3		3	DARC	1	159175764	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	34148	159175764	90074857	148	5700											
FCER1A	2205	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	159273889	159273889	+	Frame_Shift_Del	DEL	C	C	-													aagtttgaatattgtgaatgCcaaatttgaagacagtggag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159273889delC	ENST00000368115.1	+	4	347	c.248delC	c.(247-249)gccfs	p.A83fs	FCER1A_ENST00000368114.1_Frame_Shift_Del_p.A50fs	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	83	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATTGTGAATGCCAAATTTGAA	0.393																																					p.A83fs		.											.	FCER1A-524	0			c.248delC						.						78	77	77					1																	159273889		2203	4300	6503	SO:0001589	frameshift_variant	2205	exon4			TGAATGCCAAATT	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.248delC	1.37:g.159273889delC	ENSP00000357097:p.Ala83fs	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	207	102	NM_002001	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000368115.1	37	CCDS1184.1																																																																																			.		0.393	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		-	159273889	C	-	159273889	7	5	31	1	0	1	0	1	0	0	0	0	5796	739	26	0	258	0	FCER1A	1	159273889	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	98125	159273889	89976732	149	5701											
APCS	325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159558001	159558001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgtgttttcgagccTatagtgatctctctcgtgcc	8	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159558001T>C	ENST00000255040.2	+	2	272	c.175T>C	c.(175-177)Tat>Cat	p.Y59H		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	59	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TTTTCGAGCCTATAGTGATCT	0.418																																					p.Y59H		.											.	APCS-154	0			c.T175C						.						113	113	113					1																	159558001		2203	4300	6503	SO:0001583	missense	325	exon2			CGAGCCTATAGTG		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.175T>C	1.37:g.159558001T>C	ENSP00000255040:p.Tyr59His	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	87	16	NM_001639	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255040.2	37	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894591	0.52121	.	.	ENSG00000132703	ENST00000255040	T	0.64618	-0.11	4.45	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.204747	0.43416	D	0.000569	T	0.70527	0.3234	M	0.76433	2.335	0.52099	D	0.999946	D	0.63880	0.993	D	0.72338	0.977	T	0.73228	-0.4049	10	0.49607	T	0.09	-10.5723	12.0095	0.53278	0.0:0.0:0.0:1.0	.	59	P02743	SAMP_HUMAN	H	59	ENSP00000255040:Y59H	ENSP00000255040:Y59H	Y	+	1	0	APCS	157824625	0.033000	0.19621	0.870000	0.34147	0.544000	0.35116	1.962000	0.40442	1.984000	0.57885	0.533000	0.62120	TAT	.		0.418	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		C	159558001	T	C	159558001	3	2	31	1	0	0	0	0	1	0	0	0	767	1522	53	4	181	4	APCS	1	159558001	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	284112	159558001	89692620	150	5702											
FCRL6	343413	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159779392	159779392	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcccagtgaagtcagaaCaggatgctgggaactactcc	10	11	2	2	rs146386650		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159779392C>G	ENST00000368106.3	+	5	806	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	FCRL6_ENST00000392235.3_Missense_Mutation_p.Q174E|FCRL6_ENST00000339348.5_Missense_Mutation_p.Q269E|FCRL6_ENST00000321935.6_Missense_Mutation_p.Q276E	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	269	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GAAGTCAGAACAGGATGCTGG	0.527																																					p.Q269E		.											.	FCRL6-93	0			c.C805G						.						70	67	68					1																	159779392		2203	4300	6503	SO:0001583	missense	343413	exon5			TCAGAACAGGATG	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.805C>G	1.37:g.159779392C>G	ENSP00000357086:p.Gln269Glu	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	220	58	NM_001004310	0	0	0	0	0	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	c	7.876	0.729156	0.15507	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	3.91	-0.848	0.10727	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742820	0.11116	N	0.597998	T	0.00784	0.0026	N	0.17674	0.51	0.09310	N	1	B;P;P;P	0.42871	0.011;0.677;0.679;0.792	B;B;B;B	0.44315	0.03;0.118;0.446;0.318	T	0.48399	-0.9039	9	.	.	.	.	4.6286	0.12489	0.5611:0.3208:0.0:0.1181	.	269;174;269;276	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	E	276;269;174;269	ENSP00000320625:Q276E;ENSP00000340949:Q269E;ENSP00000376068:Q174E;ENSP00000357086:Q269E	.	Q	+	1	0	FCRL6	158046016	0.724000	0.28038	0.064000	0.19789	0.027000	0.11550	0.238000	0.18004	0.039000	0.15632	-0.291000	0.09656	CAG	C|1.000;T|0.000		0.527	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		G	159779392	C	G	159779392	3	3	31	1	0	0	0	0	1	0	0	0	5821	479	17	3	823	3	FCRL6	1	159779392	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	221391	159779392	89471229	151	5703											
SLAMF9	89886	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	159922196	159922196	+	Frame_Shift_Del	DEL	C	C	-													atggaatgtataagtgctatCcccccgggagagccagctgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159922196delC	ENST00000368093.3	-	3	636	c.520delG	c.(520-522)gatfs	p.D174fs	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	174	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAGTGCTATCCCCCCGGGAG	0.577																																					p.D174fs		.											.	SLAMF9-91	0			c.520delG						.						142	136	138					1																	159922196		2203	4300	6503	SO:0001589	frameshift_variant	89886	exon3			TGCTATCCCCCCG	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.520delG	1.37:g.159922196delC	ENSP00000357072:p.Asp174fs	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	203	46	NM_033438	0	0	0	0	0	Q5JRQ9|Q5JRR0|Q6UWG1	Frame_Shift_Del	DEL	ENST00000368093.3	37	CCDS1191.1																																																																																			.		0.577	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		-	159922196	C	-	159922196	7	5	31	1	0	1	0	1	0	0	0	0	14416	855	30	0	357	0	SLAMF9	1	159922196	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	142804	159922196	89328425	152	5704											
IGSF8	93185	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160063008	160063008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaacctacagagtatgCagcatgacggcctgctgggg	12	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160063008C>A	ENST00000368086.1	-	4	1234	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	IGSF8_ENST00000314485.7_Missense_Mutation_p.A340S|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	340	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGAGTATGCAGCATGACGG	0.672																																					p.A340S		.											.	IGSF8-90	0			c.G1018T						.						34	34	34					1																	160063008		2203	4300	6503	SO:0001583	missense	93185	exon4			AGTATGCAGCATG	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1018G>T	1.37:g.160063008C>A	ENSP00000357065:p.Ala340Ser	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	318	37	NM_052868	0	0	0	0	0	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799455	0.31869	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.04917	3.53;3.53	3.65	3.65	0.41850	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.295124	0.25037	N	0.033629	T	0.01387	0.0045	L	0.29908	0.895	0.32200	N	0.577983	B	0.25563	0.129	B	0.24006	0.05	T	0.41963	-0.9479	10	0.08599	T	0.76	-14.8145	8.8888	0.35420	0.0:0.8875:0.0:0.1125	.	340	Q969P0	IGSF8_HUMAN	S	340	ENSP00000316664:A340S;ENSP00000357065:A340S	ENSP00000316664:A340S	A	-	1	0	IGSF8	158329632	0.055000	0.20627	0.963000	0.40424	0.911000	0.54048	0.729000	0.26028	1.870000	0.54199	0.313000	0.20887	GCA	.		0.672	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		A	160063008	C	A	160063008	3	1	31	1	0	0	0	0	1	0	0	0	7631	710	25	3	835	3	IGSF8	1	160063008	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	140812	160063008	89187613	153	5705											
ATP1A4	480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	160124894	160124894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacccaatactgttacCccaccccccaccactccaga	6	19	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160124894C>T	ENST00000368081.4	+	3	738	c.267C>T	c.(265-267)acC>acT	p.T89T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	89					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATACTGTTACCCCACCCCCCA	0.522																																					p.T89T		.											.	ATP1A4-94	0			c.C267T						.						118	117	118					1																	160124894		2203	4300	6503	SO:0001819	synonymous_variant	480	exon3			TGTTACCCCACCC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.267C>T	1.37:g.160124894C>T		Somatic	88	1		WXS	Illumina GAIIx	Phase_I	175	23	NM_144699	0	0	0	0	0	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																			.		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160124894	C	T	160124894	2	4	31	1	0	0	0	0	0	0	0	1	1132	610	22	3		3	ATP1A4	1	160124894	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	61886	160124894	89125727	154	5706											
ITLN2	142683	bcgsc.ca	37	chr1	160920966	160920966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccgtgcacttcccaCgcatgtcattctcgtgcacg	7	18	2	0	rs6680969	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160920966C>T	ENST00000368029.3	-	4	365	c.308G>A	c.(307-309)cGt>cAt	p.R103H	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	103	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs6680969). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCACTTCCCACGCATGTCATT	0.587													T|||	2445	0.488219	0.3101	0.6066	5008	,	,		20197	0.5635		0.5736	False		,,,				2504	0.4796				p.R103H		.											.	ITLN2-91	0			c.G308A						.	T	HIS/ARG	1568,2838	489.9+/-361.6	272,1024,907	136	115	122		308	-7.7	0	1	dbSNP_116	122	4816,3784	614.0+/-396.2	1370,2076,854	no	missense	ITLN2	NM_080878.2	29	1642,3100,1761	TT,TC,CC		44.0,35.5878,49.085	benign	103/326	160920966	6384,6622	2203	4300	6503	SO:0001583	missense	142683	exon4			TTCCCACGCATGT	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.308G>A	1.37:g.160920966C>T	ENSP00000357008:p.Arg103His	Somatic	280	0		WXS	Illumina GAIIx	Phase_I	498	13	NM_080878	0	0	0	0	0	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	CCDS1212.1	1161	0.5315934065934066	166	0.33739837398373984	219	0.6049723756906077	345	0.6031468531468531	431	0.5686015831134564	c	0.010	-1.778554	0.00634	0.355878	0.56	ENSG00000158764	ENST00000368029	T	0.29917	1.55	3.85	-7.71	0.01254	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	5.644520	0.01244	N	0.008713	T	0.01695	0.0054	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.13145	0.003;0.007	B;B	0.09377	0.004;0.004	T	0.04796	-1.0926	9	0.15499	T	0.54	15.2494	5.2058	0.15289	0.0694:0.322:0.1326:0.4759	rs6680969;rs60032875	102;103	A6NI51;Q8WWU7	.;ITLN2_HUMAN	H	103	ENSP00000357008:R103H	ENSP00000357008:R103H	R	-	2	0	ITLN2	159187590	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.621000	0.00207	-4.850000	0.00029	-3.076000	0.00066	CGT	C|0.495;T|0.505		0.587	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		T	160920966	C	T	160920966	3	4	31	1	0	0	0	0	1	0	0	0	7938	536	19	1	689	1	ITLN2	1	160920966	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	796072	160920966	88329655	155	5707											
F11R	50848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160970019	160970019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcgtaggcatcactatccCatctttgaaccaggtgtatt	7	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160970019C>A	ENST00000368026.6	-	5	782	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.G121W	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	170	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G170W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ATCACTATCCCATCTTTGAAC	0.517																																					p.G170W		.											.	F11R-92	1	Substitution - Missense(1)	lung(1)	c.G508T						.						150	141	144					1																	160970019		2203	4300	6503	SO:0001583	missense	50848	exon5			CTATCCCATCTTT	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.508G>T	1.37:g.160970019C>A	ENSP00000357005:p.Gly170Trp	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	173	69	NM_016946	0	0	0	0	0	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300560	0.40694	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.72725	-0.68;-0.68;-0.68	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.333787	0.33457	N	0.004883	D	0.84234	0.5427	M	0.93150	3.385	0.43110	D	0.994816	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.995;0.999;0.999;0.999	D	0.86989	0.2109	10	0.87932	D	0	.	9.5419	0.39257	0.0:0.9069:0.0:0.0931	.	174;121;170;170;170	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	W	170;170;170;121;174	ENSP00000357005:G170W;ENSP00000440812:G121W;ENSP00000394809:G174W	ENSP00000289779:G170W	G	-	1	0	F11R	159236643	0.465000	0.25815	0.976000	0.42696	0.021000	0.10359	1.973000	0.40550	2.666000	0.90696	0.563000	0.77884	GGG	.		0.517	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		A	160970019	C	A	160970019	3	1	31	1	0	0	0	0	1	0	0	0	5354	594	21	3	415	3	F11R	1	160970019	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49053	160970019	88280602	156	5708											
HSPA6	3310	ucsc.edu;bcgsc.ca	37	chr1	161496045	161496045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtacaaggctgaggatgagGcccagagggacagagtggct	17	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161496045G>T	ENST00000309758.4	+	1	2010	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	533					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAGGATGAGGCCCAGAGGGA	0.542																																					p.A533S		.											.	HSPA6-226	0			c.G1597T						.						51	45	47					1																	161496045		2203	4300	6503	SO:0001583	missense	3310	exon1			GATGAGGCCCAGA		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1597G>T	1.37:g.161496045G>T	ENSP00000310219:p.Ala533Ser	Somatic	642	4		WXS	Illumina GAIIx	Phase_I	966	364	NM_002155	0	0	0	0	0	Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	1.728	-0.494931	0.04322	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01034	5.42	3.45	3.45	0.39498	.	0.216551	0.22613	U	0.057806	T	0.00695	0.0023	M	0.91717	3.235	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.53401	-0.8444	10	0.11182	T	0.66	.	8.657	0.34068	0.0:0.2361:0.7639:0.0	.	533	P17066	HSP76_HUMAN	S	533;509	ENSP00000310219:A533S	ENSP00000310219:A533S	A	+	1	0	HSPA6	159762669	0.000000	0.05858	0.999000	0.59377	0.985000	0.73830	0.571000	0.23669	1.722000	0.51474	0.591000	0.81541	GCC	.		0.542	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		T	161496045	G	T	161496045	3	4	31	1	0	0	0	0	1	0	0	0	7442	1203	42	3	1599	3	HSPA6	1	161496045	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	526026	161496045	87754576	157	5709											
FCGR3A	2214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161519625	161519625	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcctttccccagcccCtccacccatctctgtcaccc	3	22	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161519625C>A	ENST00000436743.1	-	2	93				FCGR3A_ENST00000443193.1_Missense_Mutation_p.G4W|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G4W|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000540048.1_Intron|RP11-25K21.6_ENST00000537821.2_RNA	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						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)	TCCCCAGCCCCTCCACCCATC	0.512																																					p.G4W		.											.	FCGR3A-91	0			c.G10T						.						109	103	105					1																	161519625		2203	4300	6503	SO:0001627	intron_variant	2214	exon1			CAGCCCCTCCACC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.62-37G>T	1.37:g.161519625C>A		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	302	171	NM_001127592	0	0	0	0	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324479	0.24080	.	.	ENSG00000203747	ENST00000367969;ENST00000443193	T;T	0.02085	4.46;4.47	4.15	4.15	0.48705	.	.	.	.	.	T	0.02193	0.0068	N	0.14661	0.345	0.44492	D	0.997439	D	0.60160	0.987	D	0.62955	0.909	T	0.63730	-0.6571	9	0.66056	D	0.02	.	12.1477	0.54031	0.0:1.0:0.0:0.0	.	4	E9PG94	.	W	4	ENSP00000356946:G4W;ENSP00000392047:G4W	ENSP00000356946:G4W	G	-	1	0	FCGR3A	159786249	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.009000	0.13219	2.297000	0.77311	0.467000	0.42956	GGG	.		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		A	161519625	C	A	161519625	1	1	31	0	1	0	0	0	0	0	0	0	5806	681	24	3		3	FCGR3A	1	161519625	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	23580	161519625	87730996	158	5710											
OLFML2B	25903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161967901	161967901	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggagacaccgaggttgtTtggagtgttggtcccactga	14	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161967901T>A	ENST00000294794.3	-	6	1611	c.1188A>T	c.(1186-1188)caA>caT	p.Q396H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Q397H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	396					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCGAGGTTGTTTGGAGTGTTG	0.617																																					p.Q396H		.											.	OLFML2B-69	0			c.A1188T						.						145	154	151					1																	161967901		2203	4300	6503	SO:0001583	missense	25903	exon6			GGTTGTTTGGAGT	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1188A>T	1.37:g.161967901T>A	ENSP00000294794:p.Gln396His	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	204	32	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	T	9.586	1.124790	0.20959	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86769	-2.17;-2.17	3.61	-5.43	0.02632	.	.	.	.	.	T	0.52208	0.1720	N	0.14661	0.345	0.27323	N	0.956985	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18777	-1.0326	8	0.34782	T	0.22	.	6.5404	0.22377	0.0:0.1487:0.2865:0.5649	.	397;396	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	H	396;397	ENSP00000294794:Q396H;ENSP00000356917:Q397H	ENSP00000294794:Q396H	Q	-	3	2	OLFML2B	160234525	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.936000	0.01549	-1.031000	0.03308	-0.464000	0.05259	CAA	.		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161967901	T	A	161967901	3	1	31	1	0	0	0	0	1	0	0	0	10897	1838	64	5	1076	5	OLFML2B	1	161967901	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	448276	161967901	87282720	159	5711											
OLFML2B	25903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161987209	161987209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctcctccagtttatccactCgccccaccagtttggtggtg	8	16	0	0	rs532457018		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161987209C>A	ENST00000294794.3	-	3	950	c.527G>T	c.(526-528)cGa>cTa	p.R176L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R176L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	176					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTTATCCACTCGCCCCACCAG	0.438																																					p.R176L		.											.	OLFML2B-69	0			c.G527T						.						109	108	108					1																	161987209		2203	4300	6503	SO:0001583	missense	25903	exon3			TCCACTCGCCCCA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.527G>T	1.37:g.161987209C>A	ENSP00000294794:p.Arg176Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	124	36	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169164	0.78339	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.49720	0.77;0.77	5.27	5.27	0.74061	.	.	.	.	.	T	0.55832	0.1945	L	0.48642	1.525	0.45837	D	0.998700	D;D	0.89917	0.999;1.0	D;D	0.79784	0.931;0.993	T	0.58896	-0.7555	8	0.87932	D	0	.	16.4462	0.83935	0.0:1.0:0.0:0.0	.	176;176	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	176	ENSP00000294794:R176L;ENSP00000356917:R176L	ENSP00000294794:R176L	R	-	2	0	OLFML2B	160253833	1.000000	0.71417	0.973000	0.42090	0.974000	0.67602	5.437000	0.66544	2.735000	0.93741	0.655000	0.94253	CGA	.		0.438	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161987209	C	A	161987209	3	1	31	1	0	0	0	0	1	0	0	0	10897	884	31	2	1749	2	OLFML2B	1	161987209	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	19308	161987209	87263412	160	5712											
OLFML2B	25903	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	161989832	161989832	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgaggtgatggtttcCacggtatagaagtcttcctt	12	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161989832C>A	ENST00000294794.3	-	2	738	c.315G>T	c.(313-315)gtG>gtT	p.V105V	OLFML2B_ENST00000367940.2_Silent_p.V105V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	105					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGATGGTTTCCACGGTATAGA	0.617																																					p.V105V		.											.	OLFML2B-69	0			c.G315T						.						94	94	94					1																	161989832		2203	4300	6503	SO:0001819	synonymous_variant	25903	exon2			GGTTTCCACGGTA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.315G>T	1.37:g.161989832C>A		Somatic	146	2		WXS	Illumina GAIIx	Phase_I	172	97	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																			.		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161989832	C	A	161989832	2	1	31	1	0	0	0	0	0	0	0	1	10897	581	21	3		3	OLFML2B	1	161989832	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2623	161989832	87260789	161	5713											
NOS1AP	9722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	162313643	162313643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagccaagctatgagaatcGttcggacggtggggcaggcc	16	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162313643G>T	ENST00000361897.5	+	6	874	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	NOS1AP_ENST00000530878.1_Missense_Mutation_p.V153F|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	158	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.V158F(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TATGAGAATCGTTCGGACGGT	0.552																																					p.V158F		.											.	NOS1AP-228	2	Substitution - Missense(2)	kidney(2)	c.G472T						.						95	92	93					1																	162313643		2203	4300	6503	SO:0001583	missense	9722	exon6			AGAATCGTTCGGA	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.472G>T	1.37:g.162313643G>T	ENSP00000355133:p.Val158Phe	Somatic	301	0		WXS	Illumina GAIIx	Phase_I	434	90	NM_014697	0	0	0	0	0	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114204	0.77210	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.21361	2.01;2.01	5.79	5.79	0.91817	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.88181	2.935	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.57124	-0.7865	9	0.87932	D	0	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	153;153;158	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	F	153;158	ENSP00000431586:V153F;ENSP00000355133:V158F	ENSP00000355133:V158F	V	+	1	0	NOS1AP	160580267	1.000000	0.71417	0.977000	0.42913	0.346000	0.29079	9.337000	0.96545	2.733000	0.93635	0.655000	0.94253	GTT	.		0.552	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		T	162313643	G	T	162313643	3	4	31	1	0	0	0	0	1	0	0	0	10581	1145	40	2	494	2	NOS1AP	1	162313643	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	323811	162313643	86936978	162	5714											
C1orf111	284680	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	162345173	162345173	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggatgcctcagtggGtactgctgtctttgcaatgt	14	8	2	0	rs139605225		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162345173G>C	ENST00000367935.5	-	2	203	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	42										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)			GCCTCAGTGGGTACTGCTGTC	0.552																																					p.P42A		.											.	C1orf111-69	0			c.C124G						.						177	144	155					1																	162345173		2203	4300	6503	SO:0001583	missense	284680	exon2			CAGTGGGTACTGC	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.124C>G	1.37:g.162345173G>C	ENSP00000356912:p.Pro42Ala	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	374	28	NM_182581	0	0	0	0	0	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459136	0.43634	.	.	ENSG00000171722	ENST00000367935	T	0.56103	0.48	4.34	3.43	0.39272	.	0.297828	0.24126	N	0.041319	T	0.29556	0.0737	L	0.55481	1.735	0.23023	N	0.998415	P	0.42456	0.78	B	0.39068	0.289	T	0.23655	-1.0182	9	0.87932	D	0	-19.2755	8.0134	0.30365	0.1109:0.0:0.8891:0.0	.	42	Q5T0L3	CA111_HUMAN	A	42	ENSP00000356912:P42A	ENSP00000356912:P42A	P	-	1	0	C1orf111	160611797	0.027000	0.19231	0.034000	0.17996	0.673000	0.39480	1.074000	0.30703	1.043000	0.40175	0.650000	0.86243	CCC	G|0.999;T|0.000		0.552	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		C	162345173	G	C	162345173	3	2	31	1	0	0	0	0	1	0	0	0	1991	1261	44	3	669	3	C1orf111	1	162345173	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	31530	162345173	86905448	163	5715											
HSD17B7	51478	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	162762484	162762484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcaagcggctgctggCggaagatgatgagcttcatc	13	11	2	3	rs373109770		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162762484C>T	ENST00000254521.3	+	2	126	c.71C>T	c.(70-72)gCg>gTg	p.A24V	HSD17B7_ENST00000367913.1_Missense_Mutation_p.A24V|HSD17B7_ENST00000367917.3_Missense_Mutation_p.A24V|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367915.1_Missense_Mutation_p.A24V	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	24					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					CGGCTGCTGGCGGAAGATGAT	0.562																																					p.A24V		.											.	HSD17B7-91	0			c.C71T						.	C	VAL/ALA	0,4406		0,0,2203	29	25	26		71	-0.5	0	1		26	1,8597	1.2+/-3.3	0,1,4298	no	missense	HSD17B7	NM_016371.2	64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	24/342	162762484	1,13003	2203	4299	6502	SO:0001583	missense	51478	exon2			TGCTGGCGGAAGA	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.71C>T	1.37:g.162762484C>T	ENSP00000254521:p.Ala24Val	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	173	22	NM_016371	0	0	0	0	0	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654794	0.29425	0.0	1.16E-4	ENSG00000132196	ENST00000367915;ENST00000367917;ENST00000254521;ENST00000367913	D;T;D;D	0.88509	-2.39;2.81;-2.39;-2.39	4.89	-0.465	0.12157	NAD(P)-binding domain (1);	1.369740	0.04731	N	0.421157	T	0.70202	0.3197	M	0.62266	1.93	0.26143	N	0.980246	P	0.40180	0.705	B	0.31390	0.129	T	0.59679	-0.7409	9	0.30854	T	0.27	-0.0161	3.391	0.07289	0.3116:0.4815:0.1078:0.0991	.	24	P56937	DHB7_HUMAN	V	24	ENSP00000356892:A24V;ENSP00000356894:A24V;ENSP00000254521:A24V;ENSP00000356889:A24V	ENSP00000254521:A24V	A	+	2	0	HSD17B7	161029108	0.000000	0.05858	0.013000	0.15412	0.856000	0.48823	-0.099000	0.11007	-0.189000	0.10482	-0.290000	0.09829	GCG	.		0.562	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		T	162762484	C	T	162762484	3	4	31	1	0	0	0	0	1	0	0	0	7415	768	27	1	77	1	HSD17B7	1	162762484	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	417311	162762484	86488137	164	5716											
HSD17B7	51478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	162766425	162766425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggatcatgcctaatcCacaactaaatatcaaagcac	6	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162766425C>T	ENST00000254521.3	+	3	345	c.290C>T	c.(289-291)cCa>cTa	p.P97L	HSD17B7_ENST00000367913.1_Missense_Mutation_p.P97L|HSD17B7_ENST00000367917.3_Missense_Mutation_p.P97L|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	97					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					ATGCCTAATCCACAACTAAAT	0.358																																					p.P97L		.											.	HSD17B7-91	0			c.C290T						.						154	135	141					1																	162766425		2203	4300	6503	SO:0001583	missense	51478	exon3			CTAATCCACAACT	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.290C>T	1.37:g.162766425C>T	ENSP00000254521:p.Pro97Leu	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	145	19	NM_016371	0	0	0	0	0	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361831	0.82353	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000367913	D;D;D	0.87571	-2.27;-2.27;-2.27	4.79	4.79	0.61399	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.77486	2.375	0.37425	D	0.913791	D	0.67145	0.996	D	0.64410	0.925	D	0.92918	0.6353	9	0.87932	D	0	-44.2696	16.8254	0.85929	0.0:1.0:0.0:0.0	.	97	P56937	DHB7_HUMAN	L	97	ENSP00000356894:P97L;ENSP00000254521:P97L;ENSP00000356889:P97L	ENSP00000254521:P97L	P	+	2	0	HSD17B7	161033049	1.000000	0.71417	0.903000	0.35520	0.825000	0.46686	7.259000	0.78381	2.351000	0.79841	0.644000	0.83932	CCA	.		0.358	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		T	162766425	C	T	162766425	3	4	31	1	0	0	0	0	1	0	0	0	7415	594	21	3	300	3	HSD17B7	1	162766425	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3941	162766425	86484196	165	5717											
LMX1A	4009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	165322434	165322434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgtcgttgagccgcaGcagaaacctgtccaagatga	12	10	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:165322434G>A	ENST00000342310.3	-	3	524	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	LMX1A_ENST00000294816.2_Silent_p.L48L|LMX1A_ENST00000367893.4_Silent_p.L48L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	48	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTGAGCCGCAGCAGAAACCTG	0.612																																					p.L48L		.											.	LMX1A-92	0			c.C142T						.						60	57	58					1																	165322434		2203	4300	6503	SO:0001819	synonymous_variant	4009	exon3			GCCGCAGCAGAAA	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.142C>T	1.37:g.165322434G>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	169	68	NM_001174069	0	0	0	0	0	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	CCDS1247.1																																																																																			.		0.612	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		A	165322434	G	A	165322434	2	1	31	1	0	0	0	0	0	0	0	1	8891	962	34	3		3	LMX1A	1	165322434	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2556009	165322434	83928187	166	5718											
LRRC52	440699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	165513609	165513609	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtatcagggtcaaagTgtccaaataattgtctgtgt	12	6	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:165513609T>G	ENST00000294818.1	+	1	366	c.76T>G	c.(76-78)Tgt>Ggt	p.C26G	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	26	LRRNT.				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)					AGGGTCAAAGTGTCCAAATAA	0.512																																					p.C26G		.											.	LRRC52-91	0			c.T76G						.						117	113	115					1																	165513609		2203	4300	6503	SO:0001583	missense	440699	exon1			TCAAAGTGTCCAA	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.76T>G	1.37:g.165513609T>G	ENSP00000294818:p.Cys26Gly	Somatic	191	3		WXS	Illumina GAIIx	Phase_I	299	91	NM_001005214	0	0	0	0	0	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805522	0.70682	.	.	ENSG00000162763	ENST00000294818	D	0.99800	-6.8	5.12	5.12	0.69794	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.97829	4.085	0.32406	N	0.551254	D	0.69078	0.997	D	0.75484	0.986	D	0.96497	0.9368	9	0.87932	D	0	.	12.9715	0.58515	0.0:0.0:0.0:1.0	.	26	Q8N7C0	LRC52_HUMAN	G	26	ENSP00000294818:C26G	ENSP00000294818:C26G	C	+	1	0	LRRC52	163780233	1.000000	0.71417	0.980000	0.43619	0.973000	0.67179	6.995000	0.76257	2.159000	0.67721	0.456000	0.33151	TGT	.		0.512	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		G	165513609	T	G	165513609	3	3	31	1	0	0	0	0	1	0	0	0	9045	1696	59	5	78	5	LRRC52	1	165513609	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	191175	165513609	83737012	167	5719											
FAM78B	149297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	166039894	166039894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgttggtggggccaaccaGggtcacagtttctgtggtgt	15	8	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166039894G>T	ENST00000338353.3	-	3	959	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	FAM78B_ENST00000354422.3_Missense_Mutation_p.L124M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	124										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGGCCAACCAGGGTCACAGTT	0.537																																					p.L124M		.											.	FAM78B-91	0			c.C370A						.						145	132	137					1																	166039894		2203	4300	6503	SO:0001583	missense	149297	exon2			CAACCAGGGTCAC	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.370C>A	1.37:g.166039894G>T	ENSP00000339681:p.Leu124Met	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	163	25	NM_001017961	0	0	0	0	0	B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303604	0.40795	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	4.63	0.57726	.	0.129687	0.51477	D	0.000086	T	0.28928	0.0718	L	0.47716	1.5	0.43164	D	0.994957	B	0.19073	0.033	B	0.22152	0.038	T	0.30297	-0.9983	8	0.87932	D	0	0.074	8.9914	0.36026	0.1678:0.0:0.8322:0.0	.	124	Q5VT40	FA78B_HUMAN	M	124	.	ENSP00000339681:L124M	L	-	1	2	FAM78B	164306518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.592000	0.23984	1.476000	0.48215	-0.137000	0.14449	CTG	.		0.537	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		T	166039894	G	T	166039894	3	4	31	1	0	0	0	0	1	0	0	0	5649	991	35	3	419	3	FAM78B	1	166039894	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	526285	166039894	83210727	168	5720											
POGK	57645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	166816741	166816741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctataaacagaattcccattCcctaagccagacatgatcac	4	13	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166816741C>A	ENST00000367875.1	+	4	630	c.270C>A	c.(268-270)ttC>ttA	p.F90L	POGK_ENST00000537173.1_Intron|POGK_ENST00000367876.4_Missense_Mutation_p.F90L|POGK_ENST00000536514.1_Missense_Mutation_p.F5L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AATTCCCATTCCCTAAGCCAG	0.448																																					p.F90L	GBM(76;192 1530 30153 48742)	.											.	POGK-91	0			c.C270A						.						65	62	63					1																	166816741		2203	4300	6503	SO:0001583	missense	57645	exon4			CCCATTCCCTAAG	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.270C>A	1.37:g.166816741C>A	ENSP00000356849:p.Phe90Leu	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	147	18	NM_017542	0	0	0	0	0	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357214	0.41801	.	.	ENSG00000143157	ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T	0.37584	1.19;5.77;5.77;5.77	4.91	2.6	0.31112	Krueppel-associated box (3);	0.000000	0.48286	D	0.000188	T	0.05410	0.0143	N	0.03930	-0.32	0.32602	N	0.525725	B;B	0.32829	0.386;0.386	B;B	0.36030	0.216;0.216	T	0.21415	-1.0246	9	0.27785	T	0.31	-30.7306	4.1057	0.10035	0.1985:0.621:0.0:0.1805	.	5;90	B4DS22;Q9P215	.;POGK_HUMAN	L	5;90;90;90	ENSP00000441187:F5L;ENSP00000404402:F90L;ENSP00000356850:F90L;ENSP00000356849:F90L	ENSP00000356849:F90L	F	+	3	2	POGK	165083365	0.947000	0.32204	1.000000	0.80357	0.981000	0.71138	0.125000	0.15749	0.662000	0.31006	0.655000	0.94253	TTC	.		0.448	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		A	166816741	C	A	166816741	3	1	31	1	0	0	0	0	1	0	0	0	12224	854	30	3	280	3	POGK	1	166816741	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	776847	166816741	82433880	169	5721											
ILDR2	387597	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	166891891	166891891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagggcccgcggcttgCcccactgctgcctcccatga	13	17	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166891891C>A	ENST00000271417.3	-	8	1205	c.1150G>T	c.(1150-1152)Gca>Tca	p.A384S	ILDR2_ENST00000469934.2_Missense_Mutation_p.A384S|ILDR2_ENST00000528703.1_Missense_Mutation_p.A325S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.A276S|ILDR2_ENST00000525740.1_Missense_Mutation_p.A257S|ILDR2_ENST00000529071.1_Missense_Mutation_p.A365S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	384					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A384T(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCGGCTTGCCCCACTGCTG	0.577																																					p.A384S		.											.	ILDR2-91	1	Substitution - Missense(1)	large_intestine(1)	c.G1150T						.						165	174	171					1																	166891891		2203	4300	6503	SO:0001583	missense	387597	exon8			GGCTTGCCCCACT	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1150G>T	1.37:g.166891891C>A	ENSP00000271417:p.Ala384Ser	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	123	58	NM_199351	0	0	0	0	0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	3.070	-0.191438	0.06299	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.76060	0.62;-0.99;0.54;0.62;-0.99;0.01	5.24	-10.5	0.00291	.	0.597505	0.17896	N	0.158344	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44050	-0.9353	10	0.07175	T	0.84	.	2.0316	0.03530	0.1148:0.2249:0.2286:0.4318	.	384	Q71H61	ILDR2_HUMAN	S	384;257;384;365;276;325	ENSP00000271417:A384S;ENSP00000436120:A257S;ENSP00000437008:A384S;ENSP00000436882:A365S;ENSP00000434273:A276S;ENSP00000432750:A325S	ENSP00000271417:A384S	A	-	1	0	ILDR2	165158515	0.000000	0.05858	0.005000	0.12908	0.856000	0.48823	-1.155000	0.03163	-2.005000	0.00959	-0.367000	0.07326	GCA	.		0.577	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166891891	C	A	166891891	3	1	31	1	0	0	0	0	1	0	0	0	7737	739	26	3	781	3	ILDR2	1	166891891	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	75150	166891891	82358730	170	5722											
MAEL	84944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	166962004	166962004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaacagcgcttcctccCttgtgaaattggctgtgtta	10	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166962004C>A	ENST00000367872.4	+	4	651	c.407C>A	c.(406-408)cCt>cAt	p.P136H	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P105H	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	136					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						CGCTTCCTCCCTTGTGAAATT	0.378																																					p.P136H		.											.	MAEL-91	0			c.C407A						.						116	114	115					1																	166962004		2203	4300	6503	SO:0001583	missense	84944	exon4			TCCTCCCTTGTGA	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.407C>A	1.37:g.166962004C>A	ENSP00000356846:p.Pro136His	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	41	5	NM_032858	0	0	0	0	0	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177091	0.78564	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.63744	-0.06;0.03;0.1	5.65	5.65	0.86999	Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000005	T	0.66076	0.2753	L	0.29908	0.895	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70339	-0.4899	10	0.87932	D	0	.	18.5057	0.90896	0.0:1.0:0.0:0.0	.	105;136	E9JVC3;Q96JY0	.;MAEL_HUMAN	H	136;105;105	ENSP00000356846:P136H;ENSP00000356844:P105H;ENSP00000402143:P105H	ENSP00000356844:P105H	P	+	2	0	MAEL	165228628	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.613000	0.54152	2.660000	0.90430	0.467000	0.42956	CCT	.		0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		A	166962004	C	A	166962004	3	1	31	1	0	0	0	0	1	0	0	0	9190	681	24	3	421	3	MAEL	1	166962004	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	70113	166962004	82288617	171	5723											
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167086597	167086597	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggggtcagagcagacgcaGagtgtccaggcatgctggag	18	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167086597G>T	ENST00000361200.2	+	4	404	c.238G>T	c.(238-240)Gag>Tag	p.E80*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E80*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E80*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	80					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAGACGCAGAGTGTCCAGG	0.557																																					p.E80X		.											.	DUSP27-71	0			c.G238T						.						49	41	44					1																	167086597		2203	4300	6503	SO:0001587	stop_gained	92235	exon3			GACGCAGAGTGTC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.238G>T	1.37:g.167086597G>T	ENSP00000354483:p.Glu80*	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	202	113	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	38	6.833638	0.97873	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.1	3.08	0.35506	.	0.249817	0.31233	N	0.008013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.1716	5.4877	0.16759	0.2335:0.1474:0.6191:0.0	.	.	.	.	X	80	.	ENSP00000271385:E80X	E	+	1	0	DUSP27	165353221	0.100000	0.21855	0.170000	0.22879	0.992000	0.81027	2.570000	0.45981	1.121000	0.41925	0.561000	0.74099	GAG	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167086597	G	T	167086597	4	4	31	1	0	0	0	0	0	1	0	0	4838	943	33	3	248	3	DUSP27	1	167086597	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	124593	167086597	82164024	172	5724											
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167096341	167096341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagcgggagcattcCcctgtctgcgttctggtctg	13	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167096341C>A	ENST00000361200.2	+	6	2139	c.1973C>A	c.(1972-1974)cCc>cAc	p.P658H	DUSP27_ENST00000443333.1_Missense_Mutation_p.P658H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P658H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	658					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAGCATTCCCCTGTCTGCG	0.652																																					p.P658H		.											.	DUSP27-71	0			c.C1973A						.						45	41	43					1																	167096341		2203	4300	6503	SO:0001583	missense	92235	exon5			GCATTCCCCTGTC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1973C>A	1.37:g.167096341C>A	ENSP00000354483:p.Pro658His	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	416	64	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.089956	0.36855	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15372	2.43;2.43;2.43	5.1	3.21	0.36854	.	0.427328	0.20047	N	0.100385	T	0.27027	0.0662	M	0.71581	2.175	0.47511	D	0.999448	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.87932	D	0	-11.6544	10.6082	0.45406	0.0:0.7945:0.133:0.0725	.	658	Q5VZP5	DUS27_HUMAN	H	658	ENSP00000354483:P658H;ENSP00000271385:P658H;ENSP00000404874:P658H	ENSP00000271385:P658H	P	+	2	0	DUSP27	165362965	1.000000	0.71417	0.989000	0.46669	0.155000	0.21991	5.687000	0.68219	0.536000	0.28733	-0.179000	0.13096	CCC	.		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167096341	C	A	167096341	3	1	31	1	0	0	0	0	1	0	0	0	4838	623	22	3	1991	3	DUSP27	1	167096341	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9744	167096341	82154280	173	5725											
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167096491	167096491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccccaccacacccctgcCtaacctgccagtggggcctg	8	20	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167096491C>A	ENST00000361200.2	+	6	2289	c.2123C>A	c.(2122-2124)cCt>cAt	p.P708H	DUSP27_ENST00000443333.1_Missense_Mutation_p.P708H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P708H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	708					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACACCCCTGCCTAACCTGCCA	0.557																																					p.P708H		.											.	DUSP27-71	0			c.C2123A						.						57	60	59					1																	167096491		2203	4300	6503	SO:0001583	missense	92235	exon5			CCCTGCCTAACCT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2123C>A	1.37:g.167096491C>A	ENSP00000354483:p.Pro708His	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	274	119	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809420	0.70797	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.06933	3.24;3.24;3.24	4.68	4.68	0.58851	.	1.189520	0.06193	N	0.681672	T	0.20901	0.0503	M	0.71581	2.175	0.58432	D	0.999993	D	0.76494	0.999	P	0.60236	0.871	T	0.01202	-1.1420	10	0.87932	D	0	-16.4079	17.7941	0.88564	0.0:1.0:0.0:0.0	.	708	Q5VZP5	DUS27_HUMAN	H	708	ENSP00000354483:P708H;ENSP00000271385:P708H;ENSP00000404874:P708H	ENSP00000271385:P708H	P	+	2	0	DUSP27	165363115	1.000000	0.71417	0.600000	0.28864	0.971000	0.66376	5.615000	0.67702	2.418000	0.82041	0.643000	0.83706	CCT	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167096491	C	A	167096491	3	1	31	1	0	0	0	0	1	0	0	0	4838	681	24	3	2141	3	DUSP27	1	167096491	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	150	167096491	82154130	174	5726											
CD247	919	broad.mit.edu	37	chr1	167487681	167487681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaggatggccgcggTgaaaagcgccttccacttca	12	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167487681T>G	ENST00000362089.5	-	1	94	c.22A>C	c.(22-24)Acc>Ccc	p.T8P	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.T8P			P20963	CD3Z_HUMAN	CD247 molecule	8					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	ATGGCCGCGGTGAAAAGCGCC	0.577																																					p.T8P	Ovarian(192;1815 2869 36877 43334)	.											.	CD247-90	0			c.A22C						.						93	86	88					1																	167487681		2203	4300	6503	SO:0001583	missense	919	exon1			CCGCGGTGAAAAG	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.22A>C	1.37:g.167487681T>G	ENSP00000354782:p.Thr8Pro	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	92	9	NM_198053	0	0	0	0	0	B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025688	0.35701	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	5.02	-0.11	0.13580	.	0.941101	0.08531	U	0.931998	T	0.08313	0.0207	N	0.22421	0.69	0.21697	N	0.999589	D;B;B	0.54601	0.967;0.167;0.104	P;B;B	0.46026	0.501;0.128;0.06	T	0.11060	-1.0603	8	0.66056	D	0.02	.	1.1087	0.01700	0.147:0.1729:0.1632:0.5169	.	8;8;8	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	P	8	.	ENSP00000354782:T8P	T	-	1	0	CD247	165754305	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	0.195000	0.17155	-0.177000	0.10690	0.533000	0.62120	ACC	.		0.577	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		G	167487681	T	G	167487681	3	3	31	1	0	0	0	0	1	0	0	0	2995	1696	59	5	504	5	CD247	1	167487681	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	391190	167487681	81762940	175	5727											
RCSD1	92241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167659302	167659302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagaaatcaccacccaatgCgagccaccctcctaaattca	4	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167659302C>A	ENST00000367854.3	+	4	546	c.215C>A	c.(214-216)gCg>gAg	p.A72E	RCSD1_ENST00000537350.1_Missense_Mutation_p.A42E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	72					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCACCCAATGCGAGCCACCCT	0.453																																					p.A72E		.											.	RCSD1-517	0			c.C215A						.						154	142	146					1																	167659302		2203	4300	6503	SO:0001583	missense	92241	exon4			CCAATGCGAGCCA	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.215C>A	1.37:g.167659302C>A	ENSP00000356828:p.Ala72Glu	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	256	31	NM_052862	0	0	0	0	0	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673909	0.47781	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.55052	0.54;0.63	5.64	3.79	0.43588	.	0.477138	0.22784	N	0.055681	T	0.52025	0.1709	M	0.69823	2.125	0.38775	D	0.954648	D;D	0.69078	0.994;0.997	D;P	0.62955	0.909;0.84	T	0.53258	-0.8464	9	0.23302	T	0.38	-6.2916	10.4677	0.44618	0.0:0.8507:0.0:0.1493	.	42;72	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	E	72;42	ENSP00000356828:A72E;ENSP00000439409:A42E	ENSP00000356828:A72E	A	+	2	0	RCSD1	165925926	0.438000	0.25602	0.002000	0.10522	0.299000	0.27559	3.147000	0.50639	0.746000	0.32786	0.650000	0.86243	GCG	.		0.453	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		A	167659302	C	A	167659302	3	1	31	1	0	0	0	0	1	0	0	0	13230	768	27	2	229	2	RCSD1	1	167659302	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	171621	167659302	81591319	176	5728											
XCL1	6375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	168550362	168550362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagacgtggtcaggagCatggacaggaaatccaacac	14	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:168550362C>A	ENST00000367818.3	+	3	414	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	83					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGGTCAGGAGCATGGACAGGA	0.478																																					p.S83R		.											.	XCL1-90	0			c.C249A						.						200	181	188					1																	168550362		2203	4300	6503	SO:0001583	missense	6375	exon3			CAGGAGCATGGAC	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.249C>A	1.37:g.168550362C>A	ENSP00000356792:p.Ser83Arg	Somatic	326	0		WXS	Illumina GAIIx	Phase_I	477	173	NM_002995	0	0	0	0	0	Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536255	0.13188	.	.	ENSG00000143184	ENST00000367818	T	0.04406	3.63	4.83	-6.16	0.02098	Chemokine interleukin-8-like domain (3);	1.171370	0.05916	N	0.632656	T	0.00906	0.0030	N	0.11427	0.14	0.24816	N	0.99262	P	0.40266	0.71	B	0.44224	0.444	T	0.38887	-0.9640	9	0.21014	T	0.42	0.0561	6.5451	0.22402	0.1209:0.3517:0.0:0.5274	.	83	P47992	XCL1_HUMAN	R	83	ENSP00000356792:S83R	ENSP00000356792:S83R	S	+	3	2	XCL1	166816986	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.207000	0.02637	-0.150000	0.13652	AGC	.		0.478	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		A	168550362	C	A	168550362	3	1	31	1	0	0	0	0	1	0	0	0	17472	709	25	3	259	3	XCL1	1	168550362	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	891060	168550362	80700259	177	5729											
KIFAP3	22920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	170015874	170015874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctgacaatgaatcacGgcggttctgtagatagtaca	9	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:170015874G>A	ENST00000361580.2	-	3	525	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R60C|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363																																					p.R100C		.											.	KIFAP3-91	0			c.C298T						.						136	130	132					1																	170015874		2203	4300	6503	SO:0001583	missense	22920	exon3			AATCACGGCGGTT	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.298C>T	1.37:g.170015874G>A	ENSP00000354560:p.Arg100Cys	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	278	58	NM_014970	0	0	0	0	0	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197803	0.79015	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.50548	0.74;0.74;0.74	5.62	5.62	0.85841	Armadillo-like helical (1);	0.045878	0.85682	D	0.000000	T	0.35566	0.0936	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.57846	0.828;0.765	T	0.09357	-1.0678	9	.	.	.	-13.1783	12.8625	0.57922	0.0:0.0:0.7363:0.2637	.	56;100	B1AKU5;Q92845	.;KIFA3_HUMAN	C	100;60;56	ENSP00000354560:R100C;ENSP00000356739:R60C;ENSP00000356741:R56C	.	R	-	1	0	KIFAP3	168282498	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	3.655000	0.54460	2.809000	0.96659	0.467000	0.42956	CGT	.		0.363	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		A	170015874	G	A	170015874	3	1	31	1	0	0	0	0	1	0	0	0	8338	1116	39	1	2152	1	KIFAP3	1	170015874	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1465512	170015874	79234747	178	5730											
PRRX1	5396	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	170633519	170633519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acatggtggcggcacaggcgGatgagaacgtgggcgaggct	19	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:170633519G>C	ENST00000239461.6	+	1	473	c.160G>C	c.(160-162)Gat>Cat	p.D54H	PRRX1_ENST00000367760.3_Missense_Mutation_p.D54H|PRRX1_ENST00000497230.2_Missense_Mutation_p.D54H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	54					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCACAGGCGGATGAGAACGT	0.672																																					p.D54H		.											.	PRRX1-659	0			c.G160C						.						31	30	31					1																	170633519		2203	4300	6503	SO:0001583	missense	5396	exon1			CAGGCGGATGAGA	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.160G>C	1.37:g.170633519G>C	ENSP00000239461:p.Asp54His	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	616	72	NM_006902	0	0	0	0	0	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464419	0.63513	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.92199	-2.99;-2.88;-2.98;-2.88	4.63	4.63	0.57726	.	0.051010	0.85682	D	0.000000	D	0.86760	0.6010	N	0.19112	0.55	0.80722	D	1	P;P	0.41498	0.668;0.752	P;P	0.47705	0.455;0.555	D	0.89525	0.3781	10	0.62326	D	0.03	.	16.2143	0.82195	0.0:0.0:1.0:0.0	.	54;54	P54821;P54821-2	PRRX1_HUMAN;.	H	7;54;54;54	ENSP00000451943:D7H;ENSP00000356734:D54H;ENSP00000239461:D54H;ENSP00000450762:D54H	ENSP00000239461:D54H	D	+	1	0	PRRX1	168900143	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.656000	0.91102	2.399000	0.81585	0.555000	0.69702	GAT	.		0.672	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		C	170633519	G	C	170633519	3	2	31	1	0	0	0	0	1	0	0	0	12654	1174	41	3	162	3	PRRX1	1	170633519	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	617645	170633519	78617102	179	5731											
TNN	63923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175046899	175046899	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccgggtgaagaagctGgaggaagagatggtggagat	19	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175046899G>T	ENST00000239462.4	+	2	458	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	115					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAAGAAGCTGGAGGAAGAGA	0.552																																					p.L115L		.											.	TNN-138	0			c.G345T						.						56	59	58					1																	175046899		2203	4300	6503	SO:0001819	synonymous_variant	63923	exon2			GAAGCTGGAGGAA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.345G>T	1.37:g.175046899G>T		Somatic	311	0		WXS	Illumina GAIIx	Phase_I	459	126	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			.		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175046899	G	T	175046899	2	4	31	1	0	0	0	0	0	0	0	1	16370	1335	47	3		3	TNN	1	175046899	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4413380	175046899	74203722	180	5732											
TNN	63923	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175086185	175086185	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgtggtgcgctacaccTctgccaaggacggagagacc	14	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175086185T>A	ENST00000239462.4	+	10	2343	c.2230T>A	c.(2230-2232)Tct>Act	p.S744T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	744	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCGCTACACCTCTGCCAAGGA	0.632																																					p.S744T		.											.	TNN-138	0			c.T2230A						.						84	81	82					1																	175086185		2203	4300	6503	SO:0001583	missense	63923	exon10			TACACCTCTGCCA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2230T>A	1.37:g.175086185T>A	ENSP00000239462:p.Ser744Thr	Somatic	291	1		WXS	Illumina GAIIx	Phase_I	421	54	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746857	0.69418	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57107	0.42	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131393	0.51477	D	0.000100	T	0.70456	0.3226	M	0.71920	2.185	0.52099	D	0.999942	D	0.76494	0.999	D	0.87578	0.998	T	0.71876	-0.4460	10	0.48119	T	0.1	.	13.9036	0.63821	0.0:0.0:0.0:1.0	.	744	Q9UQP3	TENN_HUMAN	T	744;567	ENSP00000239462:S744T	ENSP00000239462:S744T	S	+	1	0	TNN	173352808	1.000000	0.71417	0.993000	0.49108	0.581000	0.36288	5.102000	0.64572	2.164000	0.68074	0.533000	0.62120	TCT	.		0.632	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175086185	T	A	175086185	3	1	31	1	0	0	0	0	1	0	0	0	16370	1551	54	5	2264	5	TNN	1	175086185	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	39286	175086185	74164436	181	5733											
TNN	63923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175092664	175092664	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctgacggagagaccAgggaggttccggtggggaag	18	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175092664A>T	ENST00000239462.4	+	12	2892	c.2779A>T	c.(2779-2781)Agg>Tgg	p.R927W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	927	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGAGAGACCAGGGAGGTTCC	0.617																																					p.R927W		.											.	TNN-138	0			c.A2779T						.						94	80	84					1																	175092664		2203	4300	6503	SO:0001583	missense	63923	exon12			GAGACCAGGGAGG	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2779A>T	1.37:g.175092664A>T	ENSP00000239462:p.Arg927Trp	Somatic	309	0		WXS	Illumina GAIIx	Phase_I	444	100	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501891	0.26949	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.49432	0.78	4.98	-2.12	0.07165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.977933	0.08448	N	0.944400	T	0.62865	0.2463	M	0.81802	2.56	0.09310	N	1	D	0.59767	0.986	D	0.67103	0.949	T	0.54207	-0.8328	10	0.62326	D	0.03	.	5.3852	0.16215	0.5122:0.271:0.2168:0.0	.	927	Q9UQP3	TENN_HUMAN	W	927;750	ENSP00000239462:R927W	ENSP00000239462:R927W	R	+	1	2	TNN	173359287	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.251000	0.08818	-0.598000	0.05806	-1.787000	0.00631	AGG	.		0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175092664	A	T	175092664	3	4	31	1	0	0	0	0	1	0	0	0	16370	179	7	5	2821	5	TNN	1	175092664	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	6479	175092664	74157957	182	5734											
TNN	63923	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	175116153	175116153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcatggctacagcagggaGcctgtcctgggcagaaagaa	13	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175116153G>T	ENST00000239462.4	+	19	3959	c.3846G>T	c.(3844-3846)gaG>gaT	p.E1282D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1282					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACAGCAGGGAGCCTGTCCTGG	0.552											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E1282D		.											.	TNN-138	0			c.G3846T						.						59	56	57					1																	175116153		2203	4300	6503	SO:0001583	missense	63923	exon19			CAGGGAGCCTGTC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3846G>T	1.37:g.175116153G>T	ENSP00000239462:p.Glu1282Asp	Somatic	193	1	1921	WXS	Illumina GAIIx	Phase_I	338	99	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185320	0.38609	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26067	1.76	5.19	2.16	0.27623	.	0.736785	0.12728	N	0.444115	T	0.17066	0.0410	L	0.31294	0.92	0.25438	N	0.988123	B	0.15141	0.012	B	0.12156	0.007	T	0.31392	-0.9945	10	0.20046	T	0.44	.	8.9471	0.35764	0.0:0.1496:0.5603:0.2901	.	1282	Q9UQP3	TENN_HUMAN	D	1282;1105	ENSP00000239462:E1282D	ENSP00000239462:E1282D	E	+	3	2	TNN	173382776	0.619000	0.27059	0.238000	0.24106	0.112000	0.19704	0.570000	0.23653	0.156000	0.19299	-0.313000	0.08912	GAG	.		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175116153	G	T	175116153	3	4	31	1	0	0	0	0	1	0	0	0	16370	962	34	3	3916	3	TNN	1	175116153	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	23489	175116153	74134468	183	5735											
TNR	7143	ucsc.edu;bcgsc.ca	37	chr1	175348815	175348815	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttcactgttatcccactcGaggtcaaggctggttgctgt	11	11	2	0	rs139768853	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175348815G>T	ENST00000367674.2	-	9	2544	c.1836C>A	c.(1834-1836)ctC>ctA	p.L612L	TNR_ENST00000263525.2_Silent_p.L612L			Q92752	TENR_HUMAN	tenascin R	612	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L612L(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATCCCACTCGAGGTCAAGGC	0.507																																					p.L612L		.											.	TNR-324	3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	c.C1836A						.						106	80	89					1																	175348815		2203	4300	6503	SO:0001819	synonymous_variant	7143	exon9			CCACTCGAGGTCA	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1836C>A	1.37:g.175348815G>T		Somatic	193	2		WXS	Illumina GAIIx	Phase_I	269	134	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			G|0.998;A|0.002		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175348815	G	T	175348815	2	4	31	1	0	0	0	0	0	0	0	1	16385	1045	37	2		2	TNR	1	175348815	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	232662	175348815	73901806	184	5736											
TNR	7143	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175362928	175362928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgttacctttggaatgaaGctgatttcccacccatcgaa	8	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175362928G>T	ENST00000367674.2	-	6	2052	c.1344C>A	c.(1342-1344)agC>agA	p.S448R	TNR_ENST00000263525.2_Missense_Mutation_p.S448R			Q92752	TENR_HUMAN	tenascin R	448	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGGAATGAAGCTGATTTCCC	0.468																																					p.S448R		.											.	TNR-324	0			c.C1344A						.						226	222	223					1																	175362928		2203	4300	6503	SO:0001583	missense	7143	exon6			AATGAAGCTGATT	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1344C>A	1.37:g.175362928G>T	ENSP00000356646:p.Ser448Arg	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	227	72	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.157976|3.157976	0.57368|0.57368	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.56103	.|0.48;0.48	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.53078|0.53078	-0.8489|-0.8489	5|10	.|0.11794	.|T	.|0.64	.|.	17.1817|17.1817	0.86857|0.86857	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|448	.|Q92752	.|TENR_HUMAN	I|R	173|448	.|ENSP00000356646:S448R;ENSP00000263525:S448R	.|ENSP00000263525:S448R	L|S	-|-	1|3	0|2	TNR|TNR	173629551|173629551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.250000|6.250000	0.72435|0.72435	2.202000|2.202000	0.70862|0.70862	0.643000|0.643000	0.83706|0.83706	CTT|AGC	.		0.468	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175362928	G	T	175362928	3	4	31	1	0	0	0	0	1	0	0	0	16385	962	34	3	2804	3	TNR	1	175362928	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	14113	175362928	73887693	185	5737											
TNR	7143	ucsc.edu;bcgsc.ca	37	chr1	175372387	175372387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggccgcagtcctcacCaacgtagccctcctcgcata	8	19	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175372387C>A	ENST00000367674.2	-	4	1573	c.865G>T	c.(865-867)Ggt>Tgt	p.G289C	TNR_ENST00000263525.2_Missense_Mutation_p.G289C			Q92752	TENR_HUMAN	tenascin R	289	Cys-rich.|EGF-like 4.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGTCCTCACCAACGTAGCCC	0.622																																					p.G289C		.											.	TNR-324	0			c.G865T						.						127	85	99					1																	175372387		2203	4300	6503	SO:0001583	missense	7143	exon4			CCTCACCAACGTA	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.865G>T	1.37:g.175372387C>A	ENSP00000356646:p.Gly289Cys	Somatic	282	2		WXS	Illumina GAIIx	Phase_I	377	145	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358315	0.82243	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.25749	1.78;1.78	6.04	6.04	0.98038	EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	H	0.99935	4.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	D	0.87097	0.2176	10	0.87932	D	0	.	20.1743	0.98175	0.0:1.0:0.0:0.0	.	289;289	B4DIX8;Q92752	.;TENR_HUMAN	C	289	ENSP00000356646:G289C;ENSP00000263525:G289C	ENSP00000263525:G289C	G	-	1	0	TNR	173639010	1.000000	0.71417	0.256000	0.24389	0.548000	0.35241	5.931000	0.70113	2.873000	0.98535	0.561000	0.74099	GGT	.		0.622	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175372387	C	A	175372387	3	1	31	1	0	0	0	0	1	0	0	0	16385	594	21	3	3291	3	TNR	1	175372387	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9459	175372387	73878234	186	5738											
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	176526124	176526124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacatttccaaccttgGcccaagcattcccttaaaca	3	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176526124G>T	ENST00000367662.3	+	2	1830	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.W222C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	222					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						TCCAACCTTGGCCCAAGCATT	0.562																																					p.W222C		.											.	PAPPA2-548	0			c.G666T						.						90	93	92					1																	176526124		1965	4150	6115	SO:0001583	missense	60676	exon2			ACCTTGGCCCAAG	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.666G>T	1.37:g.176526124G>T	ENSP00000356634:p.Trp222Cys	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	215	62	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997189	0.35226	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32023	4.72;1.47	3.28	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);	0.481226	0.15990	U	0.234878	T	0.31638	0.0803	M	0.65975	2.015	0.09310	N	0.999995	P;D	0.54047	0.875;0.964	B;B	0.43783	0.253;0.431	T	0.14839	-1.0458	10	0.51188	T	0.08	.	7.9237	0.29861	0.0:0.0:0.7532:0.2468	.	222;222	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	222	ENSP00000356634:W222C;ENSP00000356633:W222C	ENSP00000356633:W222C	W	+	3	0	PAPPA2	174792747	0.297000	0.24408	0.002000	0.10522	0.555000	0.35460	1.887000	0.39698	0.626000	0.30322	0.313000	0.20887	TGG	.		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176526124	G	T	176526124	3	4	31	1	0	0	0	0	1	0	0	0	11472	1212	42	3	668	3	PAPPA2	1	176526124	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1153737	176526124	72724497	187	5739											
PAPPA2	60676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	176564188	176564188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgacttgaggttctccaggGctttgagccagagcctgaga	13	10	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176564188G>T	ENST00000367662.3	+	3	2612	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G483V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	483	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTCTCCAGGGCTTTGAGCCA	0.522																																					p.G483V		.											.	PAPPA2-548	0			c.G1448T						.						75	77	76					1																	176564188		1971	4161	6132	SO:0001583	missense	60676	exon3			TCCAGGGCTTTGA	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.1448G>T	1.37:g.176564188G>T	ENSP00000356634:p.Gly483Val	Somatic	126	1		WXS	Illumina GAIIx	Phase_I	196	80	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.019980	0.07634	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30714	4.76;1.52	4.65	0.223	0.15292	.	0.775342	0.12560	N	0.458263	T	0.16896	0.0406	L	0.31926	0.97	0.19575	N	0.999969	P;P	0.36086	0.536;0.454	B;B	0.27887	0.081;0.084	T	0.12066	-1.0562	10	0.51188	T	0.08	-4.8231	5.007	0.14293	0.378:0.3786:0.2434:0.0	.	483;483	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	483	ENSP00000356634:G483V;ENSP00000356633:G483V	ENSP00000356633:G483V	G	+	2	0	PAPPA2	174830811	0.097000	0.21791	0.642000	0.29436	0.120000	0.20174	0.168000	0.16622	0.169000	0.19679	0.650000	0.86243	GGC	.		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176564188	G	T	176564188	3	4	31	1	0	0	0	0	1	0	0	0	11472	1203	42	3	1454	3	PAPPA2	1	176564188	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	38064	176564188	72686433	188	5740											
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	176769205	176769205	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccccttagagcattgtGtgcactggccggcgtcaatg	11	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176769205G>T	ENST00000367662.3	+	21	6303	c.5139G>T	c.(5137-5139)gtG>gtT	p.V1713V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1713	Sushi 5. {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						AGAGCATTGTGTGCACTGGCC	0.502																																					p.V1713V		.											.	PAPPA2-548	0			c.G5139T						.						127	122	124					1																	176769205		1930	4138	6068	SO:0001819	synonymous_variant	60676	exon21			CATTGTGTGCACT	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.5139G>T	1.37:g.176769205G>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	108	10	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																			.		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176769205	G	T	176769205	2	4	31	1	0	0	0	0	0	0	0	1	11472	1364	48	3		3	PAPPA2	1	176769205	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	205017	176769205	72481416	189	5741											
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	176845691	176845691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accttgagccttgacatcatCcaccacggggcatggggtct	11	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176845691C>A	ENST00000367654.3	-	21	3680	c.3469G>T	c.(3469-3471)Gat>Tat	p.D1157Y	ASTN1_ENST00000361833.2_Missense_Mutation_p.D1149Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.D1149Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1149Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1157					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D1149Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACATCATCCACCACGGGG	0.577																																					p.D1149Y		.											.	ASTN1-319	1	Substitution - Missense(1)	lung(1)	c.G3445T						.						151	114	126					1																	176845691		2203	4300	6503	SO:0001583	missense	460	exon21			CATCATCCACCAC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3469G>T	1.37:g.176845691C>A	ENSP00000356626:p.Asp1157Tyr	Somatic	209	1		WXS	Illumina GAIIx	Phase_I	296	151	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.533940	0.85812	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20738	2.05;2.47;2.47;2.06	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40079	-0.9582	10	0.87932	D	0	-21.3211	18.6437	0.91404	0.0:1.0:0.0:0.0	.	1149;1149	O14525-2;B1AJS1	.;.	Y	1149;1149;1157;1149;1149	ENSP00000356629:D1149Y;ENSP00000354536:D1149Y;ENSP00000356626:D1157Y;ENSP00000395041:D1149Y	ENSP00000354536:D1149Y	D	-	1	0	ASTN1	175112314	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.487000	0.81328	2.478000	0.83669	0.655000	0.94253	GAT	.		0.577	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		A	176845691	C	A	176845691	3	1	31	1	0	0	0	0	1	0	0	0	1065	855	30	3	455	3	ASTN1	1	176845691	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	76486	176845691	72404930	190	5742											
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	176863813	176863813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcacatgacacagggggcagGacgaggggcatcgtcccttg	15	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176863813G>T	ENST00000367654.3	-	17	3060	c.2849C>A	c.(2848-2850)tCc>tAc	p.S950Y	ASTN1_ENST00000361833.2_Missense_Mutation_p.S942Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.S942Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.S942Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	950					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGGGGCAGGACGAGGGGCA	0.592																																					p.S942Y		.											.	ASTN1-319	0			c.C2825A						.						94	93	93					1																	176863813		2203	4300	6503	SO:0001583	missense	460	exon17			GGGCAGGACGAGG	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2849C>A	1.37:g.176863813G>T	ENSP00000356626:p.Ser950Tyr	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	137	40	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959316	0.53400	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.26	5.26	0.73747	.	0.048867	0.85682	D	0.000000	T	0.21022	0.0506	N	0.17082	0.46	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.03025	-1.1081	10	0.49607	T	0.09	-27.2779	13.7699	0.63018	0.0:0.0:0.8463:0.1537	.	942;942	O14525-2;B1AJS1	.;.	Y	942;942;950;942;942	ENSP00000356629:S942Y;ENSP00000354536:S942Y;ENSP00000356626:S950Y;ENSP00000395041:S942Y	ENSP00000354536:S942Y	S	-	2	0	ASTN1	175130436	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	6.974000	0.76122	2.640000	0.89533	0.655000	0.94253	TCC	.		0.592	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176863813	G	T	176863813	3	4	31	1	0	0	0	0	1	0	0	0	1065	1174	41	3	1091	3	ASTN1	1	176863813	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18122	176863813	72386808	191	5743											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	31	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2187487	179051300	70199321	192	5744											
TDRD5	163589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	179620086	179620086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtagtggatgaatatgtaGatggaatccttaacattttt	11	3	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:179620086G>A	ENST00000367614.1	+	12	2244	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	TDRD5_ENST00000294848.8_Missense_Mutation_p.D629N|TDRD5_ENST00000444136.1_Missense_Mutation_p.D629N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	629					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAATATGTAGATGGAATCCT	0.413																																					p.D629N		.											.	TDRD5-94	0			c.G1885A						.						203	190	194					1																	179620086		2203	4300	6503	SO:0001583	missense	163589	exon12			TATGTAGATGGAA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1885G>A	1.37:g.179620086G>A	ENSP00000356586:p.Asp629Asn	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	340	91	NM_001199091	0	0	0	0	0	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174520	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34275	2.59;2.59;2.77;1.37	5.91	5.91	0.95273	.	0.169864	0.51477	D	0.000083	T	0.34308	0.0893	L	0.46157	1.445	0.38931	D	0.957955	P;P	0.46859	0.885;0.671	P;B	0.44447	0.45;0.145	T	0.08700	-1.0709	10	0.28530	T	0.3	-9.1251	11.2155	0.48823	0.0828:0.0:0.9172:0.0	.	629;629	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	629;629;629;85	ENSP00000356586:D629N;ENSP00000294848:D629N;ENSP00000406052:D629N;ENSP00000410744:D85N	ENSP00000294848:D629N	D	+	1	0	TDRD5	177886709	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.899000	0.48679	2.793000	0.96121	0.655000	0.94253	GAT	.		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		A	179620086	G	A	179620086	3	1	31	1	0	0	0	0	1	0	0	0	15780	942	33	3	1927	3	TDRD5	1	179620086	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	568786	179620086	69630535	193	5745											
LHX4	89884	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	180240552	180240552	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaagcggccccggaccacCatcacagccaagcagctgga	11	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:180240552C>A	ENST00000263726.2	+	4	733	c.489C>A	c.(487-489)acC>acA	p.T163T	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	163					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCCGGACCACCATCACAGCCA	0.592																																					p.T163T		.											.	LHX4-91	0			c.C489A						.						106	109	108					1																	180240552		2203	4300	6503	SO:0001819	synonymous_variant	89884	exon4			GACCACCATCACA	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.489C>A	1.37:g.180240552C>A		Somatic	345	2		WXS	Illumina GAIIx	Phase_I	554	134	NM_033343	0	0	0	0	0	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	CCDS1338.1																																																																																			.		0.592	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		A	180240552	C	A	180240552	2	1	31	1	0	0	0	0	0	0	0	1	8802	581	21	3		3	LHX4	1	180240552	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	620466	180240552	69010069	194	5746											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	181702776	181702776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcagccagagcgagcCtgacctctcctgcatcacgg	11	15	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:181702776C>A	ENST00000367573.2	+	21	3152	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P983H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1032H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1002H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P658H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1051H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1032H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1051					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						CAGAGCGAGCCTGACCTCTCC	0.652																																					p.P1051H		.											.	CACNA1E-95	0			c.C3152A						.						47	56	53					1																	181702776		2198	4289	6487	SO:0001583	missense	777	exon21			GCGAGCCTGACCT	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.3152C>A	1.37:g.181702776C>A	ENSP00000356545:p.Pro1051His	Somatic	531	1		WXS	Illumina GAIIx	Phase_I	973	256	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331683	0.81690	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.92;-3.99;-3.92;-3.92	4.99	4.99	0.66335	.	3.571280	0.00166	N	0.000007	D	0.96611	0.8894	N	0.08118	0	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.83275	0.996;0.85;0.996	D	0.88078	0.2805	10	0.56958	D	0.05	.	17.8471	0.88733	0.0:1.0:0.0:0.0	.	1032;1051;1051	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1051;1032;1002;983;658;1032;1051	ENSP00000356542:P1051H;ENSP00000434814:P1032H;ENSP00000350183:P1002H;ENSP00000351101:P983H;ENSP00000356539:P658H;ENSP00000353222:P1032H;ENSP00000356545:P1051H	ENSP00000350183:P1002H	P	+	2	0	CACNA1E	179969399	1.000000	0.71417	0.775000	0.31657	0.897000	0.52465	5.770000	0.68873	2.313000	0.78055	0.561000	0.74099	CCT	.		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181702776	C	A	181702776	3	1	31	1	0	0	0	0	1	0	0	0	2549	681	24	3	3234	3	CACNA1E	1	181702776	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1462224	181702776	67547845	195	5747											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	181767816	181767817	+	Nonsense_Mutation	DNP	CC	CC	AA													ggctactagcctgggccgttCcaacaccatcggctcagccc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:181767816_181767817CC>AA	ENST00000367573.2	+	48	6788_6789	c.6788_6789CC>AA	c.(6787-6789)tCC>tAA	p.S2263*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.S2152*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.S2244*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.S2214*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.S1827*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.S2220*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.S2201*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2263					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						CTGGGCCGTTCCAACACCATCG	0.663																																					p.S2263Y|p.S2263S		.											.	CACNA1E-95	0			c.C6788A|c.C6789A						.																																			SO:0001587	stop_gained	777	exon48			GCCGTTCCAACAC|CCGTTCCAACACC	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	Exception_encountered	1.37:g.181767816_181767817delinsAA	ENSP00000356545:p.Ser2263*	Somatic	117|114	0		WXS	Illumina GAIIx	Phase_I	217	21	NM_001205293	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation|Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.663	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		AA	181767817	CC	AA	181767816	4	1	31	1	0	0	0	0	0	1	0	0	2549	855	30	3	6845	3	CACNA1E	1	181767816	Nonsense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	65040	181767816	67482805	196	5748											
ZNF648	127665	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	182027141	182027141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgggagtccacttgtGccatgatgttcaggcgcttc	12	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182027141G>T	ENST00000339948.3	-	2	212	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTCCACTTGTGCCATGATGTT	0.507																																					p.A2E	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C5A						.						64	53	57					1																	182027141		2200	4298	6498	SO:0001583	missense	127665	exon2			ACTTGTGCCATGA	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.5C>A	1.37:g.182027141G>T	ENSP00000344129:p.Ala2Glu	Somatic	164	1		WXS	Illumina GAIIx	Phase_I	280	100	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856904	0.51376	.	.	ENSG00000179930	ENST00000339948	T	0.11063	2.81	2.66	2.66	0.31614	.	.	.	.	.	T	0.06917	0.0176	N	0.24115	0.695	0.26997	N	0.964996	P	0.37781	0.608	B	0.33568	0.166	T	0.20505	-1.0273	9	0.72032	D	0.01	.	6.9485	0.24532	0.0:0.0:0.7269:0.273	.	2	Q5T619	ZN648_HUMAN	E	2	ENSP00000344129:A2E	ENSP00000344129:A2E	A	-	2	0	ZNF648	180293764	0.003000	0.15002	0.796000	0.32109	0.599000	0.36880	1.296000	0.33389	1.814000	0.52955	0.655000	0.94253	GCA	.		0.507	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		T	182027141	G	T	182027141	3	4	31	1	0	0	0	0	1	0	0	0	18111	1319	46	3	1705	3	ZNF648	1	182027141	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	259325	182027141	67223480	197	5749											
LAMC2	3918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	183195953	183195953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaattctgccaggattGtgcttctggctacaagagag	14	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:183195953G>T	ENST00000264144.4	+	9	1252	c.1187G>T	c.(1186-1188)tGt>tTt	p.C396F	LAMC2_ENST00000493293.1_Missense_Mutation_p.C396F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	396	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGCCAGGATTGTGCTTCTGGC	0.552																																					p.C396F		.											.	LAMC2-93	0			c.G1187T						.						197	206	203					1																	183195953		2203	4300	6503	SO:0001583	missense	3918	exon9			AGGATTGTGCTTC	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1187G>T	1.37:g.183195953G>T	ENSP00000264144:p.Cys396Phe	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	217	17	NM_005562	0	0	0	0	0	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517399	0.85495	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	D;D	0.97811	-4.55;-4.55	5.39	5.39	0.77823	EGF-like, laminin (2);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.92880	3.355	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	0.99505	1.0954	10	0.87932	D	0	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	396;396;396	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	F	396	ENSP00000432063:C396F;ENSP00000264144:C396F	ENSP00000264144:C396F	C	+	2	0	LAMC2	181462576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.045000	0.93812	2.512000	0.84698	0.549000	0.68633	TGT	.		0.552	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		T	183195953	G	T	183195953	3	4	31	1	0	0	0	0	1	0	0	0	8643	1377	48	3	1221	3	LAMC2	1	183195953	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1168812	183195953	66054668	198	5750											
GLT25D2	23127	bcgsc.ca	37	chr1	183923927	183923927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttgtctggatatttaGggacaactgagacatactgg	10	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:183923927G>T	ENST00000361927.4	-	7	1369	c.998C>A	c.(997-999)cCt>cAt	p.P333H	COLGALT2_ENST00000367520.3_Missense_Mutation_p.P70H|COLGALT2_ENST00000546159.1_Missense_Mutation_p.P333H	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	333					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TGGATATTTAGGGACAACTGA	0.453																																					p.P333H		.											.	.	0			c.C998A						.						165	134	145					1																	183923927		2203	4300	6503	SO:0001583	missense	23127	exon7			TATTTAGGGACAA	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.998C>A	1.37:g.183923927G>T	ENSP00000354960:p.Pro333His	Somatic	503	5		WXS	Illumina GAIIx	Phase_I	805	191	NM_015101	0	0	0	0	0	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608448	0.46527	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.78246	-1.16;-1.16	4.84	4.84	0.62591	.	0.114890	0.64402	D	0.000013	D	0.83036	0.5167	M	0.77313	2.365	0.80722	D	1	D;P;P	0.54397	0.966;0.835;0.904	P;B;P	0.53809	0.735;0.416;0.608	T	0.82851	-0.0253	10	0.36615	T	0.2	.	12.8169	0.57671	0.0:0.0:0.8358:0.1642	.	333;333;70	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	H	333;333;70	ENSP00000439112:P333H;ENSP00000354960:P333H	ENSP00000354960:P333H	P	-	2	0	GLT25D2	182190550	0.996000	0.38824	0.998000	0.56505	0.711000	0.40976	2.961000	0.49168	2.377000	0.81083	0.462000	0.41574	CCT	.		0.453	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		T	183923927	G	T	183923927	3	4	31	1	0	0	0	0	1	0	0	0	6493	1000	35	3	906	3	GLT25D2	1	183923927	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	727974	183923927	65326694	199	5751											
C1orf25	81627	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	185112534	185112534	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccaaaggttttcgttcctCagccaaagcagccaatgtac	7	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:185112534C>T	ENST00000367506.5	-	7	1082	c.814G>A	c.(814-816)Gag>Aag	p.E272K	TRMT1L_ENST00000367504.3_Missense_Mutation_p.E116K	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	272	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTTCGTTCCTCAGCCAAAGCA	0.353																																					p.E272K		.											.	TRMT1L-92	0			c.G814A						.						89	98	95					1																	185112534		2203	4300	6503	SO:0001583	missense	81627	exon7			GTTCCTCAGCCAA	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.814G>A	1.37:g.185112534C>T	ENSP00000356476:p.Glu272Lys	Somatic	198	2		WXS	Illumina GAIIx	Phase_I	296	42	NM_030934	0	0	0	0	0	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417673	0.42918	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.34	1.22	0.21188	.	0.273372	0.39909	N	0.001221	T	0.31009	0.0783	N	0.16656	0.425	0.34724	D	0.729088	B	0.06786	0.001	B	0.14023	0.01	T	0.25398	-1.0133	9	0.16420	T	0.52	-2.257	9.8971	0.41324	0.0:0.7178:0.0:0.2822	.	272	Q7Z2T5	TRM1L_HUMAN	K	116;272	.	ENSP00000356474:E116K	E	-	1	0	TRMT1L	183379157	0.931000	0.31567	0.996000	0.52242	0.995000	0.86356	0.817000	0.27281	-0.032000	0.13758	0.591000	0.81541	GAG	.		0.353	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		T	185112534	C	T	185112534	3	4	31	1	0	0	0	0	1	0	0	0	2041	835	29	3	1423	3	C1orf25	1	185112534	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1188607	185112534	64138087	200	5752											
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186880385	186880385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggtattacagctcatGcccagacctacgatttagta	8	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:186880385G>T	ENST00000367466.3	+	7	574	c.422G>T	c.(421-423)tGc>tTc	p.C141F	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	141	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TACAGCTCATGCCCAGACCTA	0.463																																					p.C141F		.											.	PLA2G4A-721	0			c.G422T						.						172	177	175					1																	186880385		2203	4300	6503	SO:0001583	missense	5321	exon7			GCTCATGCCCAGA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.422G>T	1.37:g.186880385G>T	ENSP00000356436:p.Cys141Phe	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	186	63	NM_024420	0	0	0	0	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202734	0.38905	.	.	ENSG00000116711	ENST00000367466	T	0.01484	4.84	5.24	4.33	0.51752	Lysophospholipase, catalytic domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.430072	0.29362	N	0.012367	T	0.01421	0.0046	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.18561	0.022	T	0.60203	-0.7309	10	0.56958	D	0.05	-1.1136	11.7293	0.51726	0.0:0.6938:0.3062:0.0	.	141	P47712	PA24A_HUMAN	F	141	ENSP00000356436:C141F	ENSP00000356436:C141F	C	+	2	0	PLA2G4A	185147008	0.990000	0.36364	0.992000	0.48379	0.994000	0.84299	2.222000	0.42926	1.209000	0.43321	0.650000	0.86243	TGC	.		0.463	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		T	186880385	G	T	186880385	3	4	31	1	0	0	0	0	1	0	0	0	12040	1319	46	3	444	3	PLA2G4A	1	186880385	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1767851	186880385	62370236	201	5753											
FAM5C	339479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	190067548	190067548	+	Frame_Shift_Del	DEL	T	T	-													taccattgggaccattggacTtgatgcgacttctcaggtag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067548delT	ENST00000367462.3	-	8	2132	c.1901delA	c.(1900-1902)aagfs	p.K634fs	BRINP3_ENST00000534846.1_Frame_Shift_Del_p.K532fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	634					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)		p.K634R(1)									ACCATTGGACTTGATGCGACT	0.418																																					p.K634fs		.											.	FAM5C-228	1	Substitution - Missense(1)	large_intestine(1)	c.1901delA						.						197	207	203					1																	190067548		2203	4300	6503	SO:0001589	frameshift_variant	339479	exon8			TTGGACTTGATGC	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.1901delA	1.37:g.190067548delT	ENSP00000356432:p.Lys634fs	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	161	87	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		-	190067548	T	-	190067548	7	5	31	1	0	1	0	1	0	0	0	0	5616	1609	56	0	403	0	FAM5C	1	190067548	Frame_Shift_Del	DEL	T	TCGA-OR-A5KB-01A-11D-A30A-10	3187163	190067548	59183073	202	5754	45	3									
FAM5C	339479	hgsc.bcm.edu	37	chr1	190067549	190067550	+	Frame_Shift_Del	DEL	TG	TG	-													accattgggaccattggactTgatgcgacttctcaggtaga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067549_190067550delTG	ENST00000367462.3	-	8	2130_2131	c.1899_1900delCA	c.(1897-1902)atcaagfs	p.K634fs	BRINP3_ENST00000534846.1_Frame_Shift_Del_p.K532fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	634					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)											CCATTGGACTTGATGCGACTTC	0.421																																					p.633_634del		.											.	FAM5C-228	0			c.1899_1900del						.																																			SO:0001589	frameshift_variant	339479	exon8			TGGACTTGATGCG	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.1899_1900delCA	1.37:g.190067549_190067550delTG	ENSP00000356432:p.Lys634fs	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	158	0	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.421	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		-	190067550	TG	-	190067549	7	5	31	1	0	1	0	1	0	0	0	0	5616	1821	63	0	404	0	FAM5C	1	190067549	Frame_Shift_Del	DEL	TG	TCGA-OR-A5KB-01A-11D-A30A-10	1	190067549	59183072	203	5755	45	3									
FAM5C	339479	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr1	190067550	190067550	+	Silent	SNP	G	G	A													ccattgggaccattggacttGatgcgacttctcaggtagat							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067550G>A	ENST00000367462.3	-	8	2130	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	BRINP3_ENST00000534846.1_Silent_p.I531I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	633					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)											CATTGGACTTGATGCGACTTC	0.423																																					p.I633I		.											.	FAM5C-228	0			c.C1899T						.						203	212	209					1																	190067550		2203	4300	6503	SO:0001819	synonymous_variant	339479	exon8			GGACTTGATGCGA	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.1899C>T	1.37:g.190067550G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	155	88	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190067550	G	A	190067550	2	1	31	1	0	0	0	0	0	0	0	1	5616	1280	45	3		3	FAM5C	1	190067550	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1	190067550	59183071	204	5756	45	3									
RGS18	64407	bcgsc.ca	37	chr1	192127869	192127869	+	Missense_Mutation	SNP	C	C	A													tcaggaaaagaagaaacaagCaaagaagccaaaatcaggta							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192127869C>A	ENST00000367460.3	+	1	283	c.102C>A	c.(100-102)agC>agA	p.S34R	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	34					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAAACAAGCAAAGAAGCCA	0.284																																					p.S34R		.											.	RGS18-229	0			c.C102A						.						48	52	51					1																	192127869		2202	4288	6490	SO:0001583	missense	64407	exon1			AACAAGCAAAGAA	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.102C>A	1.37:g.192127869C>A	ENSP00000356430:p.Ser34Arg	Somatic	234	4		WXS	Illumina GAIIx	Phase_I	271	105	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135518	0.37728	.	.	ENSG00000150681	ENST00000367460	T	0.50277	0.75	6.06	5.16	0.70880	.	0.411720	0.35466	N	0.003188	T	0.40522	0.1120	L	0.46157	1.445	0.40174	D	0.977214	P	0.50066	0.931	B	0.44224	0.444	T	0.26608	-1.0098	10	0.20046	T	0.44	.	9.258	0.37595	0.0:0.8383:0.0:0.1617	.	34	Q9NS28	RGS18_HUMAN	R	34	ENSP00000356430:S34R	ENSP00000356430:S34R	S	+	3	2	RGS18	190394492	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.612000	0.24283	1.579000	0.49836	0.650000	0.86243	AGC	.		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		A	192127869	C	A	192127869	3	1	31	1	0	0	0	0	1	0	0	0	13345	709	25	3	104	3	RGS18	1	192127869	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2060319	192127869	57122752	205	5757	46	2									
RGS18	64407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	192127877	192127877	+	Missense_Mutation	SNP	C	C	A													agaagaaacaagcaaagaagCcaaaatcaggtaaaattgta							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192127877C>A	ENST00000367460.3	+	1	291	c.110C>A	c.(109-111)gCc>gAc	p.A37D	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAAAGAAGCCAAAATCAGG	0.284																																					p.A37D		.											.	RGS18-229	0			c.C110A						.						48	52	50					1																	192127877		2202	4287	6489	SO:0001583	missense	64407	exon1			AAGAAGCCAAAAT	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.110C>A	1.37:g.192127877C>A	ENSP00000356430:p.Ala37Asp	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	259	60	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826437	0.32329	.	.	ENSG00000150681	ENST00000367460	T	0.50001	0.76	6.06	0.193	0.15139	.	0.851416	0.10732	N	0.640516	T	0.33469	0.0864	L	0.51422	1.61	0.29344	N	0.865829	B	0.10296	0.003	B	0.08055	0.003	T	0.29058	-1.0024	10	0.20046	T	0.44	.	2.3317	0.04237	0.3556:0.3779:0.1161:0.1503	.	37	Q9NS28	RGS18_HUMAN	D	37	ENSP00000356430:A37D	ENSP00000356430:A37D	A	+	2	0	RGS18	190394500	0.388000	0.25197	0.998000	0.56505	0.991000	0.79684	-0.362000	0.07602	0.118000	0.18165	-0.175000	0.13238	GCC	.		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		A	192127877	C	A	192127877	3	1	31	1	0	0	0	0	1	0	0	0	13345	739	26	3	112	3	RGS18	1	192127877	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8	192127877	57122744	206	5758	46	2									
RGS18	64407	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	192153625	192153625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatcttaggagacgatcaCgctcatttacctgcaatgaa	7	10	3	2	rs200020460		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192153625C>A	ENST00000367460.3	+	5	830	c.649C>A	c.(649-651)Cgc>Agc	p.R217S		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	217					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGACGATCACGCTCATTTAC	0.348																																					p.R217S		.											.	RGS18-229	0			c.C649A						.						97	89	92					1																	192153625		2203	4299	6502	SO:0001583	missense	64407	exon5			CGATCACGCTCAT	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.649C>A	1.37:g.192153625C>A	ENSP00000356430:p.Arg217Ser	Somatic	243	1		WXS	Illumina GAIIx	Phase_I	250	90	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517548	0.85495	.	.	ENSG00000150681	ENST00000367460	T	0.54479	0.57	5.62	4.7	0.59300	.	0.094103	0.85682	D	0.000000	T	0.52224	0.1721	L	0.36672	1.1	0.80722	D	1	D	0.58970	0.984	P	0.54372	0.75	T	0.38866	-0.9641	10	0.25751	T	0.34	.	12.0324	0.53406	0.0:0.9177:0.0:0.0823	.	217	Q9NS28	RGS18_HUMAN	S	217	ENSP00000356430:R217S	ENSP00000356430:R217S	R	+	1	0	RGS18	190420248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.648000	0.89879	0.563000	0.77884	CGC	C|0.999;T|0.001		0.348	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		A	192153625	C	A	192153625	3	1	31	1	0	0	0	0	1	0	0	0	13345	536	19	2	667	2	RGS18	1	192153625	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25748	192153625	57096996	207	5759											
RGS1	5996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	192548286	192548286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcaatattgacttccgcaCtcgagaatctacagccaaga	7	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192548286C>A	ENST00000367459.3	+	5	530	c.464C>A	c.(463-465)aCt>aAt	p.T155N		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	155	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GACTTCCGCACTCGAGAATCT	0.343																																					p.T155N		.											.	RGS1-226	0			c.C464A						.						79	84	82					1																	192548286		2203	4300	6503	SO:0001583	missense	5996	exon5			TCCGCACTCGAGA	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.464C>A	1.37:g.192548286C>A	ENSP00000356429:p.Thr155Asn	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	238	59	NM_002922	0	0	0	0	0	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126065	0.77436	.	.	ENSG00000090104	ENST00000367459	T	0.02197	4.4	5.68	5.68	0.88126	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.066986	0.64402	D	0.000009	T	0.16557	0.0398	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00046	-1.2214	10	0.87932	D	0	.	13.0698	0.59055	0.0:0.9219:0.0:0.0781	.	155	Q08116	RGS1_HUMAN	N	155	ENSP00000356429:T155N	ENSP00000356429:T155N	T	+	2	0	RGS1	190814909	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	4.935000	0.63498	2.838000	0.97847	0.591000	0.81541	ACT	.		0.343	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		A	192548286	C	A	192548286	3	1	31	1	0	0	0	0	1	0	0	0	13337	565	20	3	482	3	RGS1	1	192548286	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	394661	192548286	56702335	208	5760											
CFHR3	10878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	196749007	196749007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacagggtaactctacagaaGttgcctgccatcctggctac	9	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196749007G>C	ENST00000367425.4	+	3	426	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	CFHR3_ENST00000471440.2_Missense_Mutation_p.V112L|CFHR3_ENST00000391985.3_Missense_Mutation_p.V112L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	112	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTCTACAGAAGTTGCCTGCCA	0.413																																					p.V112L		.											.	CFHR3-90	0			c.G334C						.						64	67	66					1																	196749007		1888	4124	6012	SO:0001583	missense	10878	exon3			ACAGAAGTTGCCT	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.334G>C	1.37:g.196749007G>C	ENSP00000356395:p.Val112Leu	Somatic	414	0		WXS	Illumina GAIIx	Phase_I	618	300	NM_021023	0	0	0	0	0	B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374132	0.42105	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.64803	0.83;0.83;-0.12	3.68	1.52	0.23074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75148	0.3810	M	0.81614	2.55	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.77557	0.962;0.985;0.99	T	0.61053	-0.7140	9	0.54805	T	0.06	.	5.7963	0.18389	0.3025:0.0:0.6975:0.0	.	112;112;112	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	L	112	ENSP00000356395:V112L;ENSP00000436258:V112L;ENSP00000375845:V112L	ENSP00000356395:V112L	V	+	1	0	CFHR3	195015630	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.161000	0.10026	0.129000	0.18514	0.405000	0.27470	GTT	.		0.413	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		C	196749007	G	C	196749007	3	2	31	1	0	0	0	0	1	0	0	0	3293	1029	36	3	344	3	CFHR3	1	196749007	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4200721	196749007	52501614	209	5761											
CFHR2	3080	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	196920020	196920020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgtggaaaatggtcattctGaatcttcaggacaaacacat	8	7	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196920020G>C	ENST00000367415.5	+	3	392	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	CFHR2_ENST00000476712.2_Intron|CFHR2_ENST00000367421.3_Missense_Mutation_p.E98Q|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	98	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TGGTCATTCTGAATCTTCAGG	0.348																																					p.E98Q		.											.	CFHR2-93	0			c.G292C						.						149	132	138					1																	196920020		2203	4300	6503	SO:0001583	missense	3080	exon3			CATTCTGAATCTT	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.292G>C	1.37:g.196920020G>C	ENSP00000356385:p.Glu98Gln	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	204	17	NM_005666	0	0	0	0	0	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.425	0.847249	0.17034	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64085	-0.08;-0.08	2.77	-3.03	0.05429	Complement control module (2);Sushi/SCR/CCP (3);	1.118210	0.07092	N	0.838887	T	0.48660	0.1512	L	0.32530	0.975	0.09310	N	1	P	0.48589	0.912	P	0.50049	0.629	T	0.42258	-0.9462	10	0.13853	T	0.58	.	0.9826	0.01439	0.1395:0.1913:0.2861:0.3831	.	98	P36980	FHR2_HUMAN	Q	98	ENSP00000356391:E98Q;ENSP00000356385:E98Q	ENSP00000356385:E98Q	E	+	1	0	CFHR2	195186643	0.000000	0.05858	0.652000	0.29579	0.002000	0.02628	-2.496000	0.00970	-0.335000	0.08451	-0.687000	0.03738	GAA	.		0.348	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		C	196920020	G	C	196920020	3	2	31	1	0	0	0	0	1	0	0	0	3292	1291	45	3	302	3	CFHR2	1	196920020	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	171013	196920020	52330601	210	5762											
CFHR5	81494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	196964954	196964954	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tagtggaatatgattgcaatCctaattttataataaacggg	8	4	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196964954C>G	ENST00000256785.4	+	5	824	c.715C>G	c.(715-717)Cct>Gct	p.P239A	CFHR5_ENST00000367414.5_Missense_Mutation_p.P263A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	239	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGATTGCAATCCTAATTTTAT	0.353																																					p.P239A		.											.	CFHR5-154	0			c.C715G						.						106	112	109					1																	196964954		2203	4300	6503	SO:0001583	missense	81494	exon5			TGCAATCCTAATT	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.715C>G	1.37:g.196964954C>G	ENSP00000256785:p.Pro239Ala	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	289	142	NM_030787	0	0	0	0	0	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715468	0.15306	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.36	-0.566	0.11767	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.48095	0.1481	L	0.53780	1.695	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.36817	-0.9732	9	0.28530	T	0.3	.	0.9925	0.01460	0.2253:0.3925:0.2219:0.1603	.	239	Q9BXR6	FHR5_HUMAN	A	263;239	ENSP00000356384:P263A;ENSP00000256785:P239A	ENSP00000256785:P239A	P	+	1	0	CFHR5	195231577	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.336000	0.07863	0.014000	0.14944	0.446000	0.29264	CCT	.		0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		G	196964954	C	G	196964954	3	3	31	1	0	0	0	0	1	0	0	0	3295	855	30	3	733	3	CFHR5	1	196964954	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	44934	196964954	52285667	211	5763											
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197059995	197059995	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attacctgaattttaatgatTccactagtgaatttttcctg	5	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:197059995T>A	ENST00000367409.4	-	23	9877	c.9621A>T	c.(9619-9621)ggA>ggT	p.G3207G	ASPM_ENST00000294732.7_Silent_p.G1622G|ASPM_ENST00000367408.1_Silent_p.G872G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3207	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 39. {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						TTTTAATGATTCCACTAGTGA	0.343																																					p.G3207G		.											.	ASPM-615	0			c.A9621T						.						74	74	74					1																	197059995		2203	4298	6501	SO:0001819	synonymous_variant	259266	exon23			AATGATTCCACTA	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.9621A>T	1.37:g.197059995T>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	62	23	NM_018136	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197059995	T	A	197059995	2	1	31	1	0	0	0	0	0	0	0	1	1057	1770	62	5		5	ASPM	1	197059995	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	95041	197059995	52190626	212	5764											
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197113117	197113117	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctcttctgcatttccTagtaatatagcttggtgttt	7	8	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:197113117T>A	ENST00000367409.4	-	2	667	c.411A>T	c.(409-411)ctA>ctT	p.L137L	ASPM_ENST00000294732.7_Silent_p.L137L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	137					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						CTGCATTTCCTAGTAATATAG	0.294																																					p.L137L		.											.	ASPM-615	0			c.A411T						.						63	59	60					1																	197113117		2203	4289	6492	SO:0001819	synonymous_variant	259266	exon2			ATTTCCTAGTAAT	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.411A>T	1.37:g.197113117T>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	127	44	NM_001206846	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.294	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197113117	T	A	197113117	2	1	31	1	0	0	0	0	0	0	0	1	1057	1509	53	5		5	ASPM	1	197113117	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	53122	197113117	52137504	213	5765											
KIF21B	23046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	200943940	200943940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgtgaagttgtccacgttCcagaccttgatgacacccgc	11	12	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:200943940C>A	ENST00000422435.2	-	34	5032	c.4716G>T	c.(4714-4716)tgG>tgT	p.W1572C	KIF21B_ENST00000332129.2_Missense_Mutation_p.W1559C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W1572C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W1559C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1572					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTCCACGTTCCAGACCTTGA	0.597																																					p.W1572C		.											.	KIF21B-96	0			c.G4716T						.						254	214	227					1																	200943940		2203	4300	6503	SO:0001583	missense	23046	exon34			CACGTTCCAGACC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4716G>T	1.37:g.200943940C>A	ENSP00000411831:p.Trp1572Cys	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	379	94	NM_001252102	0	0	0	0	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486600	0.84854	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.57	4.57	0.56435	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	0.94863	0.8340	H	0.98629	4.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.97338	0.9955	10	0.87932	D	0	.	17.3635	0.87357	0.0:1.0:0.0:0.0	.	1559;1572;1572;1559	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	1559;1559;1572;1572;1572	ENSP00000328494:W1559C;ENSP00000353724:W1559C;ENSP00000433808:W1572C;ENSP00000411831:W1572C	ENSP00000328494:W1559C	W	-	3	0	KIF21B	199210563	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.670000	0.83925	2.072000	0.62099	0.561000	0.74099	TGG	.		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200943940	C	A	200943940	3	1	31	1	0	0	0	0	1	0	0	0	8316	856	30	3	205	3	KIF21B	1	200943940	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3830823	200943940	48306681	214	5766											
KIF21B	23046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	200971454	200971454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcactatagccctcagcgcCatcctctcctatcactcgct	4	18	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:200971454C>A	ENST00000422435.2	-	9	1553	c.1237G>T	c.(1237-1239)Ggc>Tgc	p.G413C	KIF21B_ENST00000332129.2_Missense_Mutation_p.G413C|KIF21B_ENST00000461742.2_Missense_Mutation_p.G413C|KIF21B_ENST00000360529.5_Missense_Mutation_p.G413C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	413					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCTCAGCGCCATCCTCTCCT	0.617																																					p.G413C		.											.	KIF21B-96	0			c.G1237T						.						123	110	114					1																	200971454		2203	4300	6503	SO:0001583	missense	23046	exon9			CAGCGCCATCCTC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1237G>T	1.37:g.200971454C>A	ENSP00000411831:p.Gly413Cys	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	193	53	NM_017596	0	0	0	0	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	16.36	3.101136	0.56183	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73681	-0.42;-0.73;-0.77;-0.46	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.936;0.936;1.0;0.971	D	0.88781	0.3271	10	0.87932	D	0	.	13.2952	0.60292	0.0:0.9278:0.0:0.0722	.	413;413;413;413	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	413	ENSP00000328494:G413C;ENSP00000353724:G413C;ENSP00000433808:G413C;ENSP00000411831:G413C	ENSP00000328494:G413C	G	-	1	0	KIF21B	199238077	1.000000	0.71417	0.810000	0.32431	0.062000	0.15995	6.052000	0.71080	2.750000	0.94351	0.558000	0.71614	GGC	.		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200971454	C	A	200971454	3	1	31	1	0	0	0	0	1	0	0	0	8316	594	21	3	3741	3	KIF21B	1	200971454	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	27514	200971454	48279167	215	5767											
CACNA1S	779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	201009798	201009799	+	Missense_Mutation	DNP	CA	CA	AG													ctgggcattgccctctgggtCagcagtcccttcagcatctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201009798_201009799CA>AG	ENST00000362061.3	-	42	5403_5404	c.5177_5178TG>CT	c.(5176-5178)cTG>cCT	p.L1726P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1707P|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1726					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1726Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCTGGGTCAGCAGTCCCTT	0.619																																					p.L1726P		.											.	CACNA1S-94	1	Substitution - Missense(1)	kidney(1)	c.T5177C						.																																			SO:0001583	missense	779	exon42			TGGGTCAGCAGTC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5177_5178delinsAG	1.37:g.201009798_201009799delinsAG	ENSP00000355192:p.Leu1726Pro	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	140	0	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	DNP	ENST00000362061.3	37	CCDS1407.1																																																																																			.		0.619	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		AG	201009799	CA	AG	201009798	3	1	31	1	0	0	0	0	1	0	0	0	2554	813	29	3	455	3	CACNA1S	1	201009798	Missense_Mutation	DNP	CA	TCGA-OR-A5KB-01A-11D-A30A-10	38344	201009798	48240823	216	5768											
CACNA1S	779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	201047167	201047167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaagtactggcgcaggcCcagcccgtacatcttcatca	9	14	3	1	rs9333651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201047167C>A	ENST00000362061.3	-	11	1685	c.1459G>T	c.(1459-1461)Ggc>Tgc	p.G487C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G487C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	487					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCGCAGGCCCAGCCCGTAC	0.577																																					p.G487C		.											.	CACNA1S-94	0			c.G1459T						.						145	127	133					1																	201047167		2203	4300	6503	SO:0001583	missense	779	exon11			GCAGGCCCAGCCC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1459G>T	1.37:g.201047167C>A	ENSP00000355192:p.Gly487Cys	Somatic	369	0		WXS	Illumina GAIIx	Phase_I	625	338	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762401	0.89932	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98012	-4.66;-4.66	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98619	1.0666	10	0.87932	D	0	.	18.141	0.89639	0.0:1.0:0.0:0.0	.	487	Q13698	CAC1S_HUMAN	C	487	ENSP00000355192:G487C;ENSP00000356307:G487C	ENSP00000355192:G487C	G	-	1	0	CACNA1S	199313790	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.351000	0.79841	0.643000	0.83706	GGC	.		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201047167	C	A	201047167	3	1	31	1	0	0	0	0	1	0	0	0	2554	623	22	3	4298	3	CACNA1S	1	201047167	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	37369	201047167	48203454	217	5769											
IGFN1	91156	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	201181975	201181975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggctccagagcttccGgttctctgcaggagaaagat	12	12	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201181975G>T	ENST00000335211.4	+	12	8084	c.7954G>T	c.(7954-7956)Ggt>Tgt	p.G2652C	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGAGCTTCCGGTTCTCTGCA	0.607																																					p.G2652C		.											.	IGFN1-71	0			c.G7954T						.						13	16	15					1																	201181975		692	1590	2282	SO:0001583	missense	91156	exon12			GCTTCCGGTTCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7954G>T	1.37:g.201181975G>T	ENSP00000334714:p.Gly2652Cys	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	242	137	NM_001164586	0	0	0	0	0	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.250|9.250	1.040506|1.040506	0.19669|0.19669	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|.	0.56776|.	0.44|.	2.75|2.75	-5.43|-5.43	0.02632|0.02632	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999967|0.999967	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	-0.9850|-0.9850	7|5	0.56958|.	D|.	0.05|.	.|.	10.1982|10.1982	0.43067|0.43067	0.501:0.0:0.499:0.0|0.501:0.0:0.499:0.0	.|.	.|.	.|.	.|.	C|L	2652|69	ENSP00000334714:G2652C|.	ENSP00000334714:G2652C|.	G|R	+|+	1|2	0|0	IGFN1|IGFN1	199448598|199448598	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-2.223000|-2.223000	0.01214|0.01214	-0.967000|-0.967000	0.03582|0.03582	-1.847000|-1.847000	0.00572|0.00572	GGT|CGG	.		0.607	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201181975	G	T	201181975	3	4	31	1	0	0	0	0	1	0	0	0	7617	1116	39	2	7996	2	IGFN1	1	201181975	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	134808	201181975	48068646	218	5770											
KDM5B	10765	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	202715062	202715062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaagattctgctcgaagCttcaatgcattcatcatagg	8	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:202715062C>A	ENST00000367265.3	-	16	3411	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K785N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	749					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCTCGAAGCTTCAATGCAT	0.408																																					p.K749N		.											.	KDM5B-273	0			c.G2247T						.						170	157	162					1																	202715062		2203	4300	6503	SO:0001583	missense	10765	exon16			TCGAAGCTTCAAT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2247G>T	1.37:g.202715062C>A	ENSP00000356234:p.Lys749Asn	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	120	33	NM_006618	0	0	0	0	0	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299614	0.81136	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.86865	-2.06;-1.86;-2.18	5.96	2.66	0.31614	.	0.043268	0.85682	D	0.000000	D	0.91081	0.7193	M	0.75085	2.285	0.53688	D	0.999979	D;D	0.64830	0.994;0.984	P;P	0.61533	0.84;0.89	D	0.91163	0.4962	10	0.87932	D	0	-28.0794	11.4514	0.50156	0.0:0.7231:0.0:0.2769	.	785;749	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	749;591;785;591;118	ENSP00000356234:K749N;ENSP00000356233:K785N;ENSP00000235790:K591N	ENSP00000235790:K591N	K	-	3	2	KDM5B	200981685	0.920000	0.31207	1.000000	0.80357	0.998000	0.95712	0.115000	0.15540	0.855000	0.35359	0.655000	0.94253	AAG	.		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		A	202715062	C	A	202715062	3	1	31	1	0	0	0	0	1	0	0	0	8161	796	28	3	2435	3	KDM5B	1	202715062	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1533087	202715062	46535559	219	5771											
ADIPOR1	51094	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	202915739	202915739	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacgtccctcccagacCtagaacatatacactttctc	3	17	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:202915739C>A	ENST00000340990.5	-	4	557		c.e4-1		ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Splice_Site	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1						adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTCCCAGACCTAGAACATAT	0.498																																					.		.											.	ADIPOR1-90	0			c.259-1G>T						.						146	110	122					1																	202915739		2203	4300	6503	SO:0001630	splice_region_variant	51094	exon5			CCAGACCTAGAAC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.259-1G>T	1.37:g.202915739C>A		Somatic	217	1		WXS	Illumina GAIIx	Phase_I	367	68	NM_015999	0	0	0	0	0	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Splice_Site	SNP	ENST00000340990.5	37	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110935	0.77210	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	.	.	.	5.74	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9361	0.64026	0.0:0.9262:0.0:0.0738	.	.	.	.	.	-1	.	.	.	-	.	.	ADIPOR1	201182362	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	7.763000	0.85283	1.571000	0.49722	0.563000	0.77884	.	.		0.498	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999	Intron	A	202915739	C	A	202915739	5	1	31	1	0	0	0	0	0	0	1	0	318	695	24	3	889	3	ADIPOR1	1	202915739	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	200677	202915739	46334882	220	5772											
PPFIA4	8497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203028334	203028334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagactccgaattcagtatGcaggagcctatggtgcctgc	11	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203028334G>T	ENST00000447715.2	+	25	2811	c.2370G>T	c.(2368-2370)atG>atT	p.M790I	PPFIA4_ENST00000599966.1_Missense_Mutation_p.M306I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.M519I|PPFIA4_ENST00000367240.2_Missense_Mutation_p.M791I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.M306I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.M306I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	790					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AATTCAGTATGCAGGAGCCTA	0.592																																					p.M306I		.											.	PPFIA4-230	0			c.G918T						.						22	24	23					1																	203028334		1948	4135	6083	SO:0001583	missense	8497	exon7			CAGTATGCAGGAG	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2370G>T	1.37:g.203028334G>T	ENSP00000402576:p.Met790Ile	Somatic	468	0		WXS	Illumina GAIIx	Phase_I	811	294	NM_015053	0	0	0	0	0	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	G	10.03	1.237562	0.22711	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.21191	2.35;2.02;2.04;2.02;2.03	4.93	4.0	0.46444	.	1.307340	0.05687	N	0.591575	T	0.10252	0.0251	N	0.04508	-0.205	0.22280	N	0.999238	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27806	-1.0063	10	0.25751	T	0.34	-1.3658	4.6283	0.12489	0.0756:0.1329:0.5172:0.2743	.	519;790;1;306;306	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	I	791;790;306;519;306	ENSP00000356209:M791I;ENSP00000402576:M790I;ENSP00000295706:M306I;ENSP00000400379:M519I;ENSP00000272198:M306I	ENSP00000272198:M306I	M	+	3	0	PPFIA4	201294957	0.977000	0.34250	1.000000	0.80357	0.912000	0.54170	0.084000	0.14891	1.254000	0.44035	0.462000	0.41574	ATG	.		0.592	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		T	203028334	G	T	203028334	3	4	31	1	0	0	0	0	1	0	0	0	12351	1319	46	3	944	3	PPFIA4	1	203028334	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	112595	203028334	46222287	221	5773											
BTG2	7832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203276418	203276418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggacccctatgaggtgtCctaccgcattggggaggacg	16	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203276418C>T	ENST00000290551.4	+	2	400	c.329C>T	c.(328-330)tCc>tTc	p.S110F	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	110					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TATGAGGTGTCCTACCGCATT	0.647																																					p.S110F		.											.	BTG2-651	0			c.C329T						.						52	54	53					1																	203276418		2203	4300	6503	SO:0001583	missense	7832	exon2			AGGTGTCCTACCG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.329C>T	1.37:g.203276418C>T	ENSP00000290551:p.Ser110Phe	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	140	39	NM_006763	0	0	0	0	0	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189518	0.78789	.	.	ENSG00000159388	ENST00000290551	T	0.34275	1.37	5.06	4.15	0.48705	Anti-proliferative protein (4);	0.000000	0.64402	D	0.000001	T	0.67674	0.2918	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75764	-0.3203	10	0.87932	D	0	-36.0903	12.1305	0.53940	0.0:0.9154:0.0:0.0846	.	110	P78543	BTG2_HUMAN	F	110	ENSP00000290551:S110F	ENSP00000290551:S110F	S	+	2	0	BTG2	201543041	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.780000	0.68956	1.140000	0.42260	0.313000	0.20887	TCC	.		0.647	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		T	203276418	C	T	203276418	3	4	31	1	0	0	0	0	1	0	0	0	1558	855	30	3	335	3	BTG2	1	203276418	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	248084	203276418	45974203	222	5774											
PRELP	5549	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	203452438	203452438	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcccaggcccaggccCacacccagctttcctcagcc	8	22	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203452438C>A	ENST00000343110.2	+	2	253	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	42					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCCAGGCCCACACCCAGCT	0.657																																					p.P42P		.											.	PRELP-516	0			c.C126A						.						74	68	70					1																	203452438		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			CAGGCCCACACCC	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.126C>A	1.37:g.203452438C>A		Somatic	140	1		WXS	Illumina GAIIx	Phase_I	245	107	NM_201348	0	0	0	0	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			.		0.657	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		A	203452438	C	A	203452438	2	1	31	1	0	0	0	0	0	0	0	1	12515	581	21	3		3	PRELP	1	203452438	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	176020	203452438	45798183	223	5775											
PRELP	5549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203452762	203452762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgctggagaaactgccCggcctggtgttcctctacat	13	11	1	1	rs200569548		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203452762C>T	ENST00000343110.2	+	2	577	c.450C>T	c.(448-450)ccC>ccT	p.P150P		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	150					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.P150P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTGCCCGGCCTGGTGT	0.587													C|||	1	0.000199681	0	0	5008	,	,		17181	0		0.001	False		,,,				2504	0				p.P150P		.											.	PRELP-516	1	Substitution - coding silent(1)	lung(1)	c.C450T						.						86	87	86					1																	203452762		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			ACTGCCCGGCCTG	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.450C>T	1.37:g.203452762C>T		Somatic	202	0		WXS	Illumina GAIIx	Phase_I	316	106	NM_201348	0	0	0	0	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			C|0.999;T|0.000		0.587	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		T	203452762	C	T	203452762	2	4	31	1	0	0	0	0	0	0	0	1	12515	639	23	1		1	PRELP	1	203452762	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	324	203452762	45797859	224	5776											
LAX1	54900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203743202	203743202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgattatgtcaatgtccCcacagcagaagagattgctg	10	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203743202C>A	ENST00000442561.2	+	5	980	c.590C>A	c.(589-591)cCc>cAc	p.P197H	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.P181H	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	197					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)			GTCAATGTCCCCACAGCAGAA	0.483																																					p.P197H		.											.	LAX1-514	0			c.C590A						.						92	87	89					1																	203743202		2203	4300	6503	SO:0001583	missense	54900	exon5			ATGTCCCCACAGC	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.590C>A	1.37:g.203743202C>A	ENSP00000406970:p.Pro197His	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	196	66	NM_017773	0	0	0	0	0	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365263	0.61513	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.3	5.3	0.74995	.	0.107337	0.42294	D	0.000737	T	0.65491	0.2696	L	0.61218	1.895	0.29706	N	0.839746	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.65479	-0.6158	9	0.87932	D	0	-10.846	14.4854	0.67614	0.0:1.0:0.0:0.0	.	181;197	B7Z744;Q8IWV1	.;LAX1_HUMAN	H	197;181	.	ENSP00000356186:P181H	P	+	2	0	LAX1	202009825	0.391000	0.25221	0.544000	0.28141	0.669000	0.39330	3.544000	0.53640	2.469000	0.83416	0.655000	0.94253	CCC	.		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		A	203743202	C	A	203743202	3	1	31	1	0	0	0	0	1	0	0	0	8676	623	22	3	653	3	LAX1	1	203743202	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	290440	203743202	45507419	225	5777											
ZC3H11A	9877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203807096	203807096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttctccctctttataggcGgtgacagtgatcctccatta	8	11	2	2	rs571981678		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203807096G>T	ENST00000545588.1	+	10	4704	c.877G>T	c.(877-879)Ggt>Tgt	p.G293C	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.G293C|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.G293C|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.G293C|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.G293C	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	293					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)			CTTTATAGGCGGTGACAGTGA	0.393																																					p.G293C		.											.	ZC3H11A-515	0			c.G877T						.						71	69	70					1																	203807096		2203	4300	6503	SO:0001583	missense	9877	exon13			ATAGGCGGTGACA		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.877G>T	1.37:g.203807096G>T	ENSP00000438527:p.Gly293Cys	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	246	115	NM_014827	0	0	0	0	0	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012643	0.54468	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.75	1.79	0.24919	.	0.465787	0.25250	N	0.032038	T	0.54208	0.1844	M	0.61703	1.905	0.80722	D	1	D	0.56521	0.976	P	0.57057	0.812	T	0.50101	-0.8867	10	0.59425	D	0.04	-8.3323	7.0349	0.24987	0.2184:0.0:0.6572:0.1244	.	293	O75152	ZC11A_HUMAN	C	293;293;239;293;293;293;293	ENSP00000356183:G293C;ENSP00000356181:G293C;ENSP00000333253:G293C;ENSP00000438527:G293C;ENSP00000356179:G293C	ENSP00000333253:G293C	G	+	1	0	ZC3H11A	202073719	1.000000	0.71417	0.978000	0.43139	0.638000	0.38207	1.671000	0.37513	-0.038000	0.13624	-0.813000	0.03139	GGT	.		0.393	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		T	203807096	G	T	203807096	3	4	31	1	0	0	0	0	1	0	0	0	17608	1116	39	2	911	2	ZC3H11A	1	203807096	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	63894	203807096	45443525	226	5778											
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	204937426	204937426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtatccccagggcacCgcgagcagccagatggtgct	12	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:204937426C>A	ENST00000401399.1	+	8	955	c.756C>A	c.(754-756)acC>acA	p.T252T	NFASC_ENST00000338515.6_Silent_p.T252T|NFASC_ENST00000367169.4_Silent_p.T252T|NFASC_ENST00000513543.1_Silent_p.T263T|NFASC_ENST00000367170.4_Silent_p.T252T|NFASC_ENST00000404907.1_Silent_p.T263T|NFASC_ENST00000367172.4_Silent_p.T252T|NFASC_ENST00000403080.1_Silent_p.T252T|NFASC_ENST00000367171.4_Silent_p.T252T|NFASC_ENST00000404076.1_Silent_p.T246T|NFASC_ENST00000339876.6_Silent_p.T252T|NFASC_ENST00000539706.1_Silent_p.T263T|NFASC_ENST00000338586.6_Silent_p.T252T|NFASC_ENST00000360049.4_Silent_p.T263T			O94856	NFASC_HUMAN	neurofascin	252	Ig-like C2-type 3.				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)			CCCAGGGCACCGCGAGCAGCC	0.587																																					p.T263T		.											.	NFASC-139	0			c.C789A						.						128	111	117					1																	204937426		2203	4300	6503	SO:0001819	synonymous_variant	23114	exon9			GGGCACCGCGAGC	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.756C>A	1.37:g.204937426C>A		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	226	98	NM_001160332	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	6.722	0.501980	0.12822	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	.	4.2711	0.10787	0.2008:0.3527:0.3274:0.119	.	.	.	.	Q	222	.	.	P	+	2	0	NFASC	203204049	0.000000	0.05858	0.001000	0.08648	0.883000	0.51084	-3.163000	0.00576	-5.833000	0.00009	-2.449000	0.00209	CCG	.		0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		A	204937426	C	A	204937426	2	1	31	1	0	0	0	0	0	0	0	1	10398	639	23	2		2	NFASC	1	204937426	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1130330	204937426	44313195	227	5779											
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	204966446	204966446	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcgccaccaccaccaccgtCgccacaactactacaaccac	3	21	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:204966446C>A	ENST00000401399.1	+	24	3130	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V	NFASC_ENST00000338515.6_Silent_p.V1084V|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367172.4_Silent_p.V1084V|NFASC_ENST00000367171.4_Silent_p.V1069V|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000339876.6_Silent_p.V977V|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000360049.4_Intron			O94856	NFASC_HUMAN	neurofascin	1084	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccaccaccgtcgccacaacta	0.602																																					p.V977V		.											.	NFASC-139	0			c.C2931A						.						242	297	280					1																	204966446		1564	3570	5134	SO:0001819	synonymous_variant	23114	exon25			CACCGTCGCCACA	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.2931C>A	1.37:g.204966446C>A		Somatic	338	1		WXS	Illumina GAIIx	Phase_I	477	166	NM_001005388	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1																																																																																			.		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		A	204966446	C	A	204966446	2	1	31	1	0	0	0	0	0	0	0	1	10398	871	31	2		2	NFASC	1	204966446	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	29020	204966446	44284175	228	5780											
CNTN2	6900	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	205039030	205039030	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagggcagcactcacTggcagaccgcccgggtgcct	15	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:205039030T>A	ENST00000331830.4	+	18	2556	c.2272T>A	c.(2272-2274)Tgg>Agg	p.W758R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	758	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CAGCACTCACTGGCAGACCGC	0.637																																					p.W758R	Melanoma(183;2548 2817 37099 41192)	.											.	CNTN2-91	0			c.T2272A						.						108	109	109					1																	205039030		2203	4300	6503	SO:0001583	missense	6900	exon18			ACTCACTGGCAGA	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.2272T>A	1.37:g.205039030T>A	ENSP00000330633:p.Trp758Arg	Somatic	258	2		WXS	Illumina GAIIx	Phase_I	549	66	NM_005076	0	0	0	0	0	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320992	0.81580	.	.	ENSG00000184144	ENST00000331830	T	0.56103	0.48	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000115	T	0.74966	0.3786	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80077	-0.1533	10	0.87932	D	0	.	14.4867	0.67622	0.0:0.0:0.0:1.0	.	758;649	Q02246;Q68DA2	CNTN2_HUMAN;.	R	758	ENSP00000330633:W758R	ENSP00000330633:W758R	W	+	1	0	CNTN2	203305653	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.939000	0.87685	1.908000	0.55244	0.383000	0.25322	TGG	.		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		A	205039030	T	A	205039030	3	1	31	1	0	0	0	0	1	0	0	0	3648	1580	55	5	2338	5	CNTN2	1	205039030	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	72584	205039030	44211591	229	5781											
RASSF5	83593	hgsc.bcm.edu	37	chr1	206681002	206681002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggaccccgagccgccgCgctatctacagagcctgagc	11	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:206681002C>T	ENST00000355294.4	+	1	124	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	RASSF5_ENST00000367117.3_Missense_Mutation_p.R23C	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	23					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGAGCCGCCGCGCTATCTACA	0.756																																					p.R23C	GBM(162;656 1984 11916 22872 31529)	.											.	RASSF5-660	0			c.C67T						.						2	3	3					1																	206681002		1488	3283	4771	SO:0001583	missense	83593	exon1			CCGCCGCGCTATC	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.67C>T	1.37:g.206681002C>T	ENSP00000347443:p.Arg23Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_182663	0	0	0	0	0	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588849	0.28357	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	T;T;T	0.16897	2.93;2.35;2.31	3.77	2.85	0.33270	.	0.551601	0.15976	N	0.235521	T	0.11110	0.0271	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19073	0.007;0.004;0.033	B;B;B	0.10450	0.003;0.001;0.005	T	0.08249	-1.0731	10	0.87932	D	0	-4.9425	8.6338	0.33935	0.0:0.8873:0.0:0.1127	.	23;23;25	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	C	23	ENSP00000347443:R23C;ENSP00000356084:R23C;ENSP00000342620:R23C	ENSP00000342620:R23C	R	+	1	0	RASSF5	204747625	0.995000	0.38212	0.986000	0.45419	0.008000	0.06430	3.477000	0.53151	0.905000	0.36596	0.467000	0.42956	CGC	.		0.756	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		T	206681002	C	T	206681002	3	4	31	1	0	0	0	0	1	0	0	0	13134	768	27	1	69	1	RASSF5	1	206681002	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1641972	206681002	42569619	230	5782											
FAIM3	9214	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	207087142	207087142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactttctgggtctttcccCggtctgtgttcatgcccgct	10	13	4	1	rs200225589		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207087142C>A	ENST00000367091.3	-	2	478	c.335G>T	c.(334-336)cGg>cTg	p.R112L	FAIM3_ENST00000420007.2_Missense_Mutation_p.R112L|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	112					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)					GGTCTTTCCCCGGTCTGTGTT	0.517																																					p.R112L		.											.	FAIM3-90	0			c.G335T						.						106	107	106					1																	207087142		2203	4300	6503	SO:0001583	missense	9214	exon2			TTTCCCCGGTCTG	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.335G>T	1.37:g.207087142C>A	ENSP00000356058:p.Arg112Leu	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	212	80	NM_001193338	0	0	0	0	0	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794332	0.16327	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.28	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.287910	0.05722	N	0.597866	T	0.03477	0.0100	N	0.25890	0.77	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.46978	-0.9152	10	0.22706	T	0.39	-2.0063	3.8109	0.08796	0.3791:0.3772:0.0:0.2438	.	112	O60667	FAIM3_HUMAN	L	112	ENSP00000356058:R112L;ENSP00000403356:R112L;ENSP00000432936:R112L;ENSP00000437331:R112L	ENSP00000356058:R112L	R	-	2	0	FAIM3	205153765	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.120000	0.03273	-0.215000	0.10063	0.655000	0.94253	CGG	C|0.999;T|0.000		0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		A	207087142	C	A	207087142	3	1	31	1	0	0	0	0	1	0	0	0	5396	652	23	2	865	2	FAIM3	1	207087142	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	406140	207087142	42163479	231	5783											
FCAMR	83953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	207139094	207139094	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccgccagcagaggggCgaggaaggcctgagtgttcc	15	13	0	2	rs368626305		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207139094C>A	ENST00000324852.4	-	4	753	c.279G>T	c.(277-279)tcG>tcT	p.S93S	FCAMR_ENST00000400962.3_Silent_p.S93S|FCAMR_ENST00000450945.2_Silent_p.S93S	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	48	Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding. {ECO:0000250}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGAGGGGCGAGGAAGGCC	0.607																																					p.S93S	Ovarian(199;1883 2142 16966 44409 45154)	.											.	FCAMR-91	0			c.G279T						.						43	46	45					1																	207139094		1568	3582	5150	SO:0001819	synonymous_variant	83953	exon4			GAGGGGCGAGGAA	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.279G>T	1.37:g.207139094C>A		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	235	85	NM_032029	0	0	0	0	0	Q32M82|Q8WWV5|Q96SA2	Silent	SNP	ENST00000324852.4	37	CCDS53468.1																																																																																			.		0.607	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		A	207139094	C	A	207139094	2	1	31	1	0	0	0	0	0	0	0	1	5794	755	27	2		2	FCAMR	1	207139094	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	51952	207139094	42111527	232	5784											
CR2	1380	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	207649601	207649601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatagggtgtccacctccGcctaagacccctaacgggaa	9	14	1	1	rs184057547	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207649601G>A	ENST00000367058.3	+	14	2751	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	CR2_ENST00000367059.3_Intron|CR2_ENST00000367057.3_Silent_p.P913P|CR2_ENST00000458541.2_Silent_p.P827P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	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						GTCCACCTCCGCCTAAGACCC	0.498													G|||	2	0.000399361	0	0.0014	5008	,	,		18296	0		0	False		,,,				2504	0.001				p.P913P		.											.	CR2-232	0			c.G2739A						.						142	126	132					1																	207649601		2203	4300	6503	SO:0001819	synonymous_variant	1380	exon15			ACCTCCGCCTAAG	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.2562G>A	1.37:g.207649601G>A		Somatic	177	1		WXS	Illumina GAIIx	Phase_I	274	43	NM_001006658	0	0	0	0	0	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	CCDS1478.1																																																																																			G|0.999;A|0.000		0.498	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207649601	G	A	207649601	2	1	31	1	0	0	0	0	0	0	0	1	3849	1074	38	1		1	CR2	1	207649601	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	510507	207649601	41601020	233	5785											
CR1	1378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	207753724	207753724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctctgcactgcacaccCcagggagactggagccctga	12	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207753724C>A	ENST00000367049.4	+	30	5076	c.5076C>A	c.(5074-5076)ccC>ccA	p.P1692P	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.P1242P|CR1_ENST00000367051.1_Silent_p.P1242P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Silent_p.P1242P|CR1_ENST00000400960.2_Silent_p.P1242P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1242	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTGCACACCCCAGGGAGACT	0.567																																					p.P1692P		.											.	CR1-93	0			c.C5076A						.						99	103	102					1																	207753724		1937	4150	6087	SO:0001819	synonymous_variant	1378	exon30			CACACCCCAGGGA	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5076C>A	1.37:g.207753724C>A		Somatic	160	1		WXS	Illumina GAIIx	Phase_I	285	72	NM_000651	0	0	0	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																			.		0.567	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		A	207753724	C	A	207753724	2	1	31	1	0	0	0	0	0	0	0	1	3847	610	22	3		3	CR1	1	207753724	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	104123	207753724	41496897	234	5786											
PLXNA2	5362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	208202235	208202235	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagcagcttgttggaggggGagtccttgcccagccggtgc	17	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:208202235G>C	ENST00000367033.3	-	30	6135	c.5378C>G	c.(5377-5379)tCc>tGc	p.S1793C	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1793					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)		GTTGGAGGGGGAGTCCTTGCC	0.602																																					p.S1793C		.											.	PLXNA2-92	0			c.C5378G						.						108	106	106					1																	208202235		2203	4300	6503	SO:0001583	missense	5362	exon30			GAGGGGGAGTCCT	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.5378C>G	1.37:g.208202235G>C	ENSP00000356000:p.Ser1793Cys	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	333	43	NM_025179	0	0	0	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979215	0.92982	.	.	ENSG00000076356	ENST00000367033	T	0.19938	2.11	5.36	5.36	0.76844	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.71672	-0.4522	10	0.87932	D	0	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	1793;63	O75051;Q9HAE7	PLXA2_HUMAN;.	C	1793	ENSP00000356000:S1793C	ENSP00000356000:S1793C	S	-	2	0	PLXNA2	206268858	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.507000	0.97996	2.523000	0.85059	0.655000	0.94253	TCC	.		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208202235	G	C	208202235	3	2	31	1	0	0	0	0	1	0	0	0	12159	1174	41	3	318	3	PLXNA2	1	208202235	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	448511	208202235	41048386	235	5787											
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	209795997	209795997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcactggattgaatcTgtgaggcagattcctcggct	14	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209795997T>C	ENST00000356082.4	-	18	2719	c.2585A>G	c.(2584-2586)cAg>cGg	p.Q862R	LAMB3_ENST00000391911.1_Missense_Mutation_p.Q862R|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.Q862R	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	862	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)		GGATTGAATCTGTGAGGCAGA	0.587																																					p.Q862R		.											.	LAMB3-156	0			c.A2585G						.						160	168	165					1																	209795997		2203	4300	6503	SO:0001583	missense	3914	exon18			TGAATCTGTGAGG	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.2585A>G	1.37:g.209795997T>C	ENSP00000348384:p.Gln862Arg	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	200	60	NM_000228	0	0	0	0	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186887	0.38609	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.20463	2.07;2.07;2.07	5.56	4.39	0.52855	.	0.238103	0.43579	N	0.000542	T	0.16685	0.0401	L	0.33485	1.01	0.24896	N	0.992131	B	0.11235	0.004	B	0.11329	0.006	T	0.14559	-1.0468	10	0.36615	T	0.2	.	11.4882	0.50367	0.0:0.0723:0.0:0.9277	.	862	Q13751	LAMB3_HUMAN	R	862	ENSP00000375778:Q862R;ENSP00000348384:Q862R;ENSP00000355997:Q862R	ENSP00000348384:Q862R	Q	-	2	0	LAMB3	207862620	0.998000	0.40836	0.367000	0.25926	0.008000	0.06430	1.667000	0.37471	0.908000	0.36671	0.374000	0.22700	CAG	.		0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		C	209795997	T	C	209795997	3	2	31	1	0	0	0	0	1	0	0	0	8640	1580	55	4	957	4	LAMB3	1	209795997	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1593762	209795997	39454624	236	5788											
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	209796407	209796407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcaagaaggccccacCggccctgggaaggacacccc	11	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209796407C>A	ENST00000356082.4	-	17	2610	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C	LAMB3_ENST00000391911.1_Missense_Mutation_p.G826C|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.G826C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	826	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)		AAGGCCCCACCGGCCCTGGGA	0.652																																					p.G826C		.											.	LAMB3-156	0			c.G2476T						.						56	67	63					1																	209796407		2203	4300	6503	SO:0001583	missense	3914	exon17			CCCCACCGGCCCT	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.2476G>T	1.37:g.209796407C>A	ENSP00000348384:p.Gly826Cys	Somatic	280	1		WXS	Illumina GAIIx	Phase_I	425	208	NM_000228	0	0	0	0	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046899	0.36085	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37058	1.22;1.22;1.22	5.21	2.3	0.28687	.	0.579829	0.19226	N	0.119546	T	0.36717	0.0977	L	0.60455	1.87	0.09310	N	1	D	0.55172	0.97	P	0.46685	0.524	T	0.19386	-1.0307	10	0.56958	D	0.05	.	8.1643	0.31217	0.0:0.6787:0.0:0.3213	.	826	Q13751	LAMB3_HUMAN	C	826	ENSP00000375778:G826C;ENSP00000348384:G826C;ENSP00000355997:G826C	ENSP00000348384:G826C	G	-	1	0	LAMB3	207863030	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	0.073000	0.14640	0.217000	0.20800	-0.464000	0.05259	GGT	.		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209796407	C	A	209796407	3	1	31	1	0	0	0	0	1	0	0	0	8640	652	23	2	1070	2	LAMB3	1	209796407	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	410	209796407	39454214	237	5789											
TRAF3IP3	80342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	209936416	209936416	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcttctctttccagttaCggagttgcagttctggataa	8	8	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209936416C>A	ENST00000367024.1	+	6	1071	c.555C>A	c.(553-555)taC>taA	p.Y185*	TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Y165*|TRAF3IP3_ENST00000400959.3_Nonsense_Mutation_p.Y165*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Y165*|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Y185*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	185						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTTCCAGTTACGGAGTTGCAG	0.403																																					p.Y185X		.											.	TRAF3IP3-291	0			c.C555A						.						108	109	108					1																	209936416		2203	4300	6503	SO:0001587	stop_gained	80342	exon6			CAGTTACGGAGTT		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.555C>A	1.37:g.209936416C>A	ENSP00000355991:p.Tyr185*	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	141	54	NM_025228	0	0	0	0	0	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Nonsense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	36	5.806975	0.96967	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	4.64	-2.55	0.06288	.	0.854111	0.10105	N	0.715495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	11.9515	5.189	0.15199	0.0:0.4285:0.1781:0.3934	.	.	.	.	X	165;185;168;165;185;165	.	ENSP00000010338:Y165X	Y	+	3	2	TRAF3IP3	208003039	0.000000	0.05858	0.142000	0.22268	0.519000	0.34347	-1.953000	0.01526	-0.275000	0.09219	-0.423000	0.05987	TAC	.		0.403	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			A	209936416	C	A	209936416	4	1	31	1	0	0	0	0	0	1	0	0	16490	547	19	2	569	2	TRAF3IP3	1	209936416	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	140009	209936416	39314205	238	5790											
TRAF3IP3	80342	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	209936707	209936707	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttgttctttctctccaGgaaatcatccagctttctga	5	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209936707G>A	ENST00000367024.1	+	7	1092		c.e7-1		TRAF3IP3_ENST00000010338.4_Splice_Site|TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTTCTCTCCAGGAAATCATCC	0.483																																					.		.											.	TRAF3IP3-291	0			c.577-1G>A						.						130	136	134					1																	209936707		2203	4300	6503	SO:0001630	splice_region_variant	80342	exon7			TCTCCAGGAAATC		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.577-1G>A	1.37:g.209936707G>A		Somatic	147	1		WXS	Illumina GAIIx	Phase_I	226	67	NM_025228	0	0	0	0	0	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Splice_Site	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916165	0.52546	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9221	0.58239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAF3IP3	208003330	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.688000	0.61715	2.500000	0.84329	0.591000	0.81541	.	.		0.483	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		Intron	A	209936707	G	A	209936707	5	1	31	1	0	0	0	0	0	0	1	0	16490	1014	35	3	594	3	TRAF3IP3	1	209936707	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	291	209936707	39313914	239	5791											
IRF6	3664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	209964145	209964145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggacccaggtccccatagAagagtcggcagccctgaggg	15	12	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209964145A>G	ENST00000367021.3	-	7	927	c.755T>C	c.(754-756)tTc>tCc	p.F252S	IRF6_ENST00000542854.1_Missense_Mutation_p.F157S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	252					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)		GTCCCCATAGAAGAGTCGGCA	0.562										HNSCC(57;0.16)																											p.F252S		.											.	IRF6-92	0			c.T755C						.						70	68	69					1																	209964145		2203	4300	6503	SO:0001583	missense	3664	exon7			CCATAGAAGAGTC	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.755T>C	1.37:g.209964145A>G	ENSP00000355988:p.Phe252Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	161	46	NM_006147	0	0	0	0	0	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.224895	0.39300	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.94046	-3.34;-3.34;-3.34	6.17	3.57	0.40892	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.129098	0.64402	D	0.000001	D	0.86209	0.5878	N	0.25144	0.715	0.58432	D	0.999995	B	0.32031	0.352	B	0.31946	0.138	T	0.81293	-0.0998	9	.	.	.	.	10.3077	0.43691	0.7716:0.1099:0.0:0.1184	.	252	O14896	IRF6_HUMAN	S	252;157;252	ENSP00000355988:F252S;ENSP00000440532:F157S;ENSP00000403855:F252S	.	F	-	2	0	IRF6	208030768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.539000	0.67199	1.104000	0.41587	0.533000	0.62120	TTC	.		0.562	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		G	209964145	A	G	209964145	3	3	31	1	0	0	0	0	1	0	0	0	7861	246	9	4	660	4	IRF6	1	209964145	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	27438	209964145	39286476	240	5792											
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	210857441	210857441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttcgtttcatgcgttcttCctcttcacgtttcacatcgc	5	14	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:210857441C>G	ENST00000271751.4	-	11	2179	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.E691Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	718	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGCGTTCTTCCTCTTCACGT	0.562																																					p.E718Q		.											.	KCNH1-94	0			c.G2152C						.						71	65	67					1																	210857441		2203	4300	6503	SO:0001583	missense	3756	exon11			GTTCTTCCTCTTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2152G>C	1.37:g.210857441C>G	ENSP00000271751:p.Glu718Gln	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	55	9	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929350	0.73327	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	T;T	0.19105	2.17;2.17	4.49	3.57	0.40892	.	0.107195	0.64402	D	0.000006	T	0.42539	0.1207	M	0.75615	2.305	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.63488	0.865;0.915	T	0.39231	-0.9624	10	0.66056	D	0.02	.	12.309	0.54918	0.0:0.9167:0.0:0.0833	.	691;718	Q14CL3;O95259	.;KCNH1_HUMAN	Q	718;691	ENSP00000271751:E718Q;ENSP00000355974:E691Q	ENSP00000271751:E718Q	E	-	1	0	KCNH1	208924064	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	7.503000	0.81632	0.875000	0.35847	0.462000	0.41574	GAA	.		0.562	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		G	210857441	C	G	210857441	3	3	31	1	0	0	0	0	1	0	0	0	8058	864	30	3	821	3	KCNH1	1	210857441	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	893296	210857441	38393180	241	5793											
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	210971060	210971060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccttgcggttcaggtgcaCgcagatgtcggctctcatgt	12	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:210971060C>A	ENST00000271751.4	-	9	1732	c.1705G>T	c.(1705-1707)Gtg>Ttg	p.V569L	KCNH1_ENST00000367007.4_Missense_Mutation_p.V542L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	569					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCAGGTGCACGCAGATGTCG	0.602																																					p.V569L		.											.	KCNH1-94	0			c.G1705T						.						63	58	60					1																	210971060		2203	4300	6503	SO:0001583	missense	3756	exon9			GGTGCACGCAGAT	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1705G>T	1.37:g.210971060C>A	ENSP00000271751:p.Val569Leu	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	400	207	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509540	0.64522	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96168	-3.93;-3.93	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);	0.059788	0.64402	D	0.000002	D	0.93923	0.8055	L	0.39147	1.195	0.80722	D	1	P;B	0.47106	0.89;0.227	P;B	0.45639	0.488;0.13	D	0.92907	0.6344	10	0.30854	T	0.27	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	542;569	Q14CL3;O95259	.;KCNH1_HUMAN	L	569;542	ENSP00000271751:V569L;ENSP00000355974:V542L	ENSP00000271751:V569L	V	-	1	0	KCNH1	209037683	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	GTG	.		0.602	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	210971060	C	A	210971060	3	1	31	1	0	0	0	0	1	0	0	0	8058	536	19	2	1276	2	KCNH1	1	210971060	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	113619	210971060	38279561	242	5794											
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	211264025	211264025	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttcacaaagaaccacacAggtgtccctgaaaggaatat	7	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:211264025A>T	ENST00000271751.4	-	4	345	c.318T>A	c.(316-318)ccT>ccA	p.P106P	KCNH1_ENST00000367007.4_Silent_p.P106P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	106	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGAACCACACAGGTGTCCCTG	0.378																																					p.P106P		.											.	KCNH1-94	0			c.T318A						.						78	78	78					1																	211264025		2203	4300	6503	SO:0001819	synonymous_variant	3756	exon4			CCACACAGGTGTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.318T>A	1.37:g.211264025A>T		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	83	47	NM_002238	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																			.		0.378	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	211264025	A	T	211264025	2	4	31	1	0	0	0	0	0	0	0	1	8058	175	7	5		5	KCNH1	1	211264025	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	292965	211264025	37986596	243	5795											
INTS7	25896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	212141280	212141280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggtaaagatctccaTatcgagaagcaaggcttcga	10	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:212141280T>C	ENST00000366994.3	-	15	2158	c.2054A>G	c.(2053-2055)tAt>tGt	p.Y685C	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.Y636C|INTS7_ENST00000366993.3_Missense_Mutation_p.Y685C|INTS7_ENST00000366992.3_Missense_Mutation_p.Y685C	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	685					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)		AAGATCTCCATATCGAGAAGC	0.358																																					p.Y685C		.											.	INTS7-90	0			c.A2054G						.						107	108	107					1																	212141280		2203	4300	6503	SO:0001583	missense	25896	exon15			TCTCCATATCGAG	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.2054A>G	1.37:g.212141280T>C	ENSP00000355961:p.Tyr685Cys	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	60	24	NM_001199812	0	0	0	0	0	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389938	0.82902	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.67171	0.13;-0.14;-0.25;0.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.85130	0.996;0.997;0.996;0.929	T	0.82784	-0.0286	10	0.87932	D	0	-18.2233	15.6182	0.76784	0.0:0.0:0.0:1.0	.	636;685;685;685	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	C	685;685;685;636	ENSP00000355961:Y685C;ENSP00000355960:Y685C;ENSP00000355959:Y685C;ENSP00000388908:Y636C	ENSP00000355959:Y685C	Y	-	2	0	INTS7	210207903	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.751000	0.85126	2.101000	0.63845	0.528000	0.53228	TAT	.		0.358	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		C	212141280	T	C	212141280	3	2	31	1	0	0	0	0	1	0	0	0	7810	1406	49	4	858	4	INTS7	1	212141280	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	877255	212141280	37109341	244	5796											
INTS7	25896	broad.mit.edu;bcgsc.ca	37	chr1	212190255	212190255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagagaagtttgcagcaGcaaaaacagcagcttcaact	10	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:212190255G>C	ENST00000366994.3	-	4	586	c.482C>G	c.(481-483)gCt>gGt	p.A161G	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.A112G|INTS7_ENST00000366993.3_Missense_Mutation_p.A161G|INTS7_ENST00000366992.3_Missense_Mutation_p.A161G	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	161					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)		GTTTGCAGCAGCAAAAACAGC	0.363																																					p.A161G		.											.	INTS7-90	0			c.C482G						.						150	149	149					1																	212190255		2203	4300	6503	SO:0001583	missense	25896	exon4			GCAGCAGCAAAAA	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.482C>G	1.37:g.212190255G>C	ENSP00000355961:p.Ala161Gly	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	209	19	NM_001199812	0	0	0	0	0	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806278	0.90623	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.35	5.88	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.051231	0.85682	D	0.000000	T	0.82148	0.4974	M	0.80616	2.505	0.80722	D	1	P;P;P;D	0.67145	0.906;0.906;0.906;0.996	P;P;P;D	0.77557	0.6;0.6;0.6;0.99	D	0.84939	0.0864	10	0.72032	D	0.01	-21.7189	15.129	0.72507	0.0678:0.0:0.9322:0.0	.	112;161;161;161	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	161;161;161;112	ENSP00000355961:A161G;ENSP00000355960:A161G;ENSP00000355959:A161G;ENSP00000388908:A112G	ENSP00000355959:A161G	A	-	2	0	INTS7	210256878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	1.490000	0.48466	0.655000	0.94253	GCT	.		0.363	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		C	212190255	G	C	212190255	3	2	31	1	0	0	0	0	1	0	0	0	7810	971	34	3	2474	3	INTS7	1	212190255	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	48975	212190255	37060366	245	5797											
KCNK2	3776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	215408289	215408289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttccagcgggccacctccaTcaagcggaagctctcggcag	12	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215408289T>A	ENST00000444842.2	+	7	1232	c.1082T>A	c.(1081-1083)aTc>aAc	p.I361N	KCNK2_ENST00000391895.2_Missense_Mutation_p.I357N|KCNK2_ENST00000391894.2_Missense_Mutation_p.I346N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	361	Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GCCACCTCCATCAAGCGGAAG	0.557																																					p.I361N		.											.	KCNK2-90	0			c.T1082A						.						70	67	68					1																	215408289		2203	4300	6503	SO:0001583	missense	3776	exon7			CCTCCATCAAGCG	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1082T>A	1.37:g.215408289T>A	ENSP00000394033:p.Ile361Asn	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	112	50	NM_001017425	0	0	0	0	0	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583304	0.86748	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.23950	1.88;1.89;1.88	5.72	5.72	0.89469	.	0.142235	0.56097	D	0.000027	T	0.40694	0.1127	L	0.34521	1.04	0.58432	D	0.999998	D;P;D	0.67145	0.996;0.707;0.996	D;P;D	0.72625	0.978;0.649;0.978	T	0.16571	-1.0398	10	0.48119	T	0.1	.	16.002	0.80301	0.0:0.0:0.0:1.0	.	346;361;357	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	N	357;346;361	ENSP00000375765:I357N;ENSP00000375764:I346N;ENSP00000394033:I361N	ENSP00000375764:I346N	I	+	2	0	KCNK2	213474912	1.000000	0.71417	0.947000	0.38551	0.973000	0.67179	8.040000	0.89188	2.186000	0.69663	0.459000	0.35465	ATC	.		0.557	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		A	215408289	T	A	215408289	3	1	31	1	0	0	0	0	1	0	0	0	8093	1435	50	5	1151	5	KCNK2	1	215408289	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3218034	215408289	33842332	246	5798											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	215822060	215822060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaatagagtagttagtgaAggcttgaaggccatggagag	14	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215822060A>G	ENST00000307340.3	-	66	14778	c.14392T>C	c.(14392-14394)Ttc>Ctc	p.F4798L	USH2A_ENST00000366943.2_Missense_Mutation_p.F4798L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4798	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTTAGTGAAGGCTTGAAGG	0.522										HNSCC(13;0.011)																											p.F4798L		.											.	USH2A-115	0			c.T14392C						.						86	78	81					1																	215822060		2203	4300	6503	SO:0001583	missense	7399	exon66			TAGTGAAGGCTTG	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.14392T>C	1.37:g.215822060A>G	ENSP00000305941:p.Phe4798Leu	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	249	128	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827355	0.90955	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55234	0.53;0.53	5.63	4.49	0.54785	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000347	T	0.63534	0.2519	M	0.86420	2.815	0.42144	D	0.991522	D	0.56521	0.976	P	0.49387	0.609	T	0.66139	-0.5998	10	0.22109	T	0.4	.	12.9085	0.58166	0.8642:0.1358:0.0:0.0	.	4798	O75445	USH2A_HUMAN	L	4798	ENSP00000305941:F4798L;ENSP00000355910:F4798L	ENSP00000305941:F4798L	F	-	1	0	USH2A	213888683	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	7.290000	0.78711	0.953000	0.37825	0.533000	0.62120	TTC	.		0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215822060	A	G	215822060	3	3	31	1	0	0	0	0	1	0	0	0	17085	72	3	4	1244	4	USH2A	1	215822060	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	413771	215822060	33428561	247	5799											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	215953376	215953376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactccttgggtagtagctGcaactacctgaagacgtagg	12	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215953376G>T	ENST00000307340.3	-	55	11134	c.10748C>A	c.(10747-10749)gCa>gAa	p.A3583E	USH2A_ENST00000366943.2_Missense_Mutation_p.A3583E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3583	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAGCTGCAACTACCTG	0.448										HNSCC(13;0.011)																											p.A3583E		.											.	USH2A-115	0			c.C10748A						.						73	62	66					1																	215953376		2203	4300	6503	SO:0001583	missense	7399	exon55			GTAGCTGCAACTA	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.10748C>A	1.37:g.215953376G>T	ENSP00000305941:p.Ala3583Glu	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	168	22	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237078	0.58886	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	6.01	4.05	0.47172	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000426	T	0.67154	0.2863	M	0.79123	2.44	0.48632	D	0.999689	D	0.63880	0.993	P	0.58721	0.844	T	0.70146	-0.4952	10	0.72032	D	0.01	.	11.6669	0.51379	0.151:0.0:0.849:0.0	.	3583	O75445	USH2A_HUMAN	E	3583	ENSP00000305941:A3583E;ENSP00000355910:A3583E	ENSP00000305941:A3583E	A	-	2	0	USH2A	214019999	1.000000	0.71417	0.450000	0.26969	0.993000	0.82548	3.945000	0.56637	0.782000	0.33613	0.650000	0.86243	GCA	.		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215953376	G	T	215953376	3	4	31	1	0	0	0	0	1	0	0	0	17085	1319	46	3	4932	3	USH2A	1	215953376	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	131316	215953376	33297245	248	5800											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	215963428	215963428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcattccagttgaaatcttGtcagagcaaacatatttcaa	5	8	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215963428G>T	ENST00000307340.3	-	51	10541	c.10155C>A	c.(10153-10155)gaC>gaA	p.D3385E	USH2A_ENST00000366943.2_Missense_Mutation_p.D3385E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3385					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)		TTGAAATCTTGTCAGAGCAAA	0.373										HNSCC(13;0.011)																											p.D3385E		.											.	USH2A-115	0			c.C10155A						.						87	88	88					1																	215963428		2203	4300	6503	SO:0001583	missense	7399	exon51			AATCTTGTCAGAG	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.10155C>A	1.37:g.215963428G>T	ENSP00000305941:p.Asp3385Glu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	85	20	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893515	0.72639	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17691	2.26;2.27	5.76	3.88	0.44766	Fibronectin, type III (2);	0.000000	0.47455	D	0.000235	T	0.27629	0.0679	M	0.79475	2.455	0.44579	D	0.997545	P	0.52316	0.952	P	0.46885	0.53	T	0.07009	-1.0795	10	0.87932	D	0	.	11.3331	0.49487	0.1468:0.0:0.8532:0.0	.	3385	O75445	USH2A_HUMAN	E	3385	ENSP00000305941:D3385E;ENSP00000355910:D3385E	ENSP00000305941:D3385E	D	-	3	2	USH2A	214030051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.113000	0.57851	0.761000	0.33130	0.655000	0.94253	GAC	.		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215963428	G	T	215963428	3	4	31	1	0	0	0	0	1	0	0	0	17085	1368	48	3	5541	3	USH2A	1	215963428	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	10052	215963428	33287193	249	5801											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	216052284	216052284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaccccctgagcaagcaaCaatggtgacagaataattag	8	9	0	3	rs373984123		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216052284C>A	ENST00000307340.3	-	42	8766	c.8380G>T	c.(8380-8382)Gtt>Ttt	p.V2794F	USH2A_ENST00000366943.2_Missense_Mutation_p.V2794F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2794	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAGCAACAATGGTGACA	0.458										HNSCC(13;0.011)																											p.V2794F		.											.	USH2A-115	0			c.G8380T						.						186	174	178					1																	216052284		2203	4300	6503	SO:0001583	missense	7399	exon42			AAGCAACAATGGT	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.8380G>T	1.37:g.216052284C>A	ENSP00000305941:p.Val2794Phe	Somatic	209	0		WXS	Illumina GAIIx	Phase_I	329	166	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813331	0.70912	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	6.07	5.15	0.70609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40554	N	0.001069	T	0.72228	0.3434	M	0.85197	2.74	0.39638	D	0.970284	D	0.64830	0.994	P	0.62740	0.906	T	0.76263	-0.3023	10	0.56958	D	0.05	.	13.8755	0.63651	0.0:0.877:0.0:0.123	.	2794	O75445	USH2A_HUMAN	F	2794	ENSP00000305941:V2794F;ENSP00000355910:V2794F	ENSP00000305941:V2794F	V	-	1	0	USH2A	214118907	0.662000	0.27439	1.000000	0.80357	0.994000	0.84299	0.888000	0.28268	2.890000	0.99128	0.650000	0.86243	GTT	.		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216052284	C	A	216052284	3	1	31	1	0	0	0	0	1	0	0	0	17085	478	17	3	7352	3	USH2A	1	216052284	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	88856	216052284	33198337	250	5802											
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	216144042	216144042	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactccaaggagcaaatccGtaagcacgatagctgagttc	9	10	0	1	rs147615382		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216144042G>T	ENST00000307340.3	-	36	7268	c.6882C>A	c.(6880-6882)taC>taA	p.Y2294*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Y2294*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)																											p.Y2294X		.											.	USH2A-115	0			c.C6882A						.						112	106	108					1																	216144042		2203	4300	6503	SO:0001587	stop_gained	7399	exon36			AAATCCGTAAGCA	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.6882C>A	1.37:g.216144042G>T	ENSP00000305941:p.Tyr2294*	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	225	32	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	g	49	15.794315	0.99845	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.81	-1.1	0.09872	.	0.601185	0.13745	N	0.365719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.1574	0.20346	0.688:0.0:0.2079:0.1041	.	.	.	.	X	2294	.	ENSP00000305941:Y2294X	Y	-	3	2	USH2A	214210665	0.004000	0.15560	0.243000	0.24186	0.884000	0.51177	0.067000	0.14510	-0.124000	0.11724	-0.374000	0.07098	TAC	G|1.000;A|0.000		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216144042	G	T	216144042	4	4	31	1	0	0	0	0	0	1	0	0	17085	1140	40	2	8874	2	USH2A	1	216144042	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	91758	216144042	33106579	251	5803											
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	216390770	216390770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgacatccaagtggcttGcactgggaacacaagcatca	10	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216390770G>T	ENST00000307340.3	-	15	3502	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	USH2A_ENST00000366943.2_Missense_Mutation_p.A1039E|USH2A_ENST00000366942.3_Missense_Mutation_p.A1039E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1039	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGGCTTGCACTGGGAAC	0.473										HNSCC(13;0.011)																											p.A1039E		.											.	USH2A-115	0			c.C3116A						.						108	91	97					1																	216390770		2203	4300	6503	SO:0001583	missense	7399	exon15			TGGCTTGCACTGG	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.3116C>A	1.37:g.216390770G>T	ENSP00000305941:p.Ala1039Glu	Somatic	220	1		WXS	Illumina GAIIx	Phase_I	268	82	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253647	0.80135	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61510	0.1;0.1;0.1	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.40554	U	0.001073	T	0.74824	0.3767	M	0.70275	2.135	0.50467	D	0.999879	D;D	0.76494	0.968;0.999	P;D	0.70935	0.84;0.971	T	0.73154	-0.4072	10	0.34782	T	0.22	.	18.78	0.91928	0.0:0.0:1.0:0.0	.	1039;1039	O75445-2;O75445	.;USH2A_HUMAN	E	1039	ENSP00000305941:A1039E;ENSP00000355910:A1039E;ENSP00000355909:A1039E	ENSP00000305941:A1039E	A	-	2	0	USH2A	214457393	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	8.398000	0.90195	2.443000	0.82685	0.591000	0.81541	GCA	.		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216390770	G	T	216390770	3	4	31	1	0	0	0	0	1	0	0	0	17085	1319	46	3	12738	3	USH2A	1	216390770	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	246728	216390770	32859851	252	5804											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	216498841	216498841	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcattaggaatgcagtaccGctgtgccaaagggtggaccc	12	10	1	0	rs111033272		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216498841G>T	ENST00000307340.3	-	6	1335	c.949C>A	c.(949-951)Cgg>Agg	p.R317R	USH2A_ENST00000366943.2_Silent_p.R317R|USH2A_ENST00000366942.3_Silent_p.R317R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	317	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)		ATGCAGTACCGCTGTGCCAAA	0.498										HNSCC(13;0.011)																											p.R317R		.											.	USH2A-115	0			c.C949A	GRCh37	CS042173	USH2A	S	rs111033272	.						79	72	74					1																	216498841		2203	4300	6503	SO:0001819	synonymous_variant	7399	exon6			AGTACCGCTGTGC	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.949C>A	1.37:g.216498841G>T		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	175	76	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			.		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216498841	G	T	216498841	2	4	31	1	0	0	0	0	0	0	0	1	17085	1086	38	2		2	USH2A	1	216498841	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	108071	216498841	32751780	253	5805											
TGFB2	7042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	218607682	218607682	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacttaatgttttccagacAggaacctgggatttaaaata	8	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:218607682A>C	ENST00000366930.4	+	4	1113	c.646A>C	c.(646-648)Agg>Cgg	p.R216R	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.R244R	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	216					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TTTTCCAGACAGGAACCTGGG	0.363																																					p.R244R		.											.	TGFB2-710	0			c.A730C						.						69	66	67					1																	218607682		2203	4300	6503	SO:0001819	synonymous_variant	7042	exon5			CCAGACAGGAACC	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.646A>C	1.37:g.218607682A>C		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	161	22	NM_001135599	0	0	0	0	0	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																			.		0.363	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		C	218607682	A	C	218607682	2	2	31	1	0	0	0	0	0	0	0	1	15865	179	7	5		5	TGFB2	1	218607682	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2108841	218607682	30642939	254	5806											
EPRS	2058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	220152840	220152840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cataacaccaatagttcgagTtgtcaggccccaggagtttt	9	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220152840T>G	ENST00000366923.3	-	27	4098	c.3829A>C	c.(3829-3831)Act>Cct	p.T1277P		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1277	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)	ATAGTTCGAGTTGTCAGGCCC	0.408																																					p.T1277P		.											.	EPRS-92	0			c.A3829C						.						127	121	123					1																	220152840		2203	4300	6503	SO:0001583	missense	2058	exon27			TTCGAGTTGTCAG	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.3829A>C	1.37:g.220152840T>G	ENSP00000355890:p.Thr1277Pro	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	192	108	NM_004446	0	0	0	0	0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738895	0.89573	.	.	ENSG00000136628	ENST00000366923	T	0.32023	1.47	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	H	0.99789	4.78	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87693	0.2555	10	0.87932	D	0	-20.3599	16.3756	0.83387	0.0:0.0:0.0:1.0	.	1277	P07814	SYEP_HUMAN	P	1277	ENSP00000355890:T1277P	ENSP00000355890:T1277P	T	-	1	0	EPRS	218219463	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.698000	0.84413	2.270000	0.75569	0.460000	0.39030	ACT	.		0.408	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		G	220152840	T	G	220152840	3	3	31	1	0	0	0	0	1	0	0	0	5207	1725	60	5	733	5	EPRS	1	220152840	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1545158	220152840	29097781	255	5807											
EPRS	2058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	220178699	220178699	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcccctagcattagctcttCatgctgtaaagatgatataa	6	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220178699C>A	ENST00000366923.3	-	16	2223	c.1954G>T	c.(1954-1956)Gaa>Taa	p.E652*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	652	Glutamate--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)	ATTAGCTCTTCATGCTGTAAA	0.343																																					p.E652X		.											.	EPRS-92	0			c.G1954T						.						87	87	87					1																	220178699		2202	4298	6500	SO:0001587	stop_gained	2058	exon16			GCTCTTCATGCTG	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.1954G>T	1.37:g.220178699C>A	ENSP00000355890:p.Glu652*	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	49	20	NM_004446	0	0	0	0	0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	42	9.486240	0.99184	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-30.867	19.4637	0.94929	0.0:1.0:0.0:0.0	.	.	.	.	X	652;659;676	.	ENSP00000355890:E652X	E	-	1	0	EPRS	218245322	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.148000	0.77389	2.675000	0.91044	0.655000	0.94253	GAA	.		0.343	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		A	220178699	C	A	220178699	4	1	31	1	0	0	0	0	0	1	0	0	5207	835	29	3	2652	3	EPRS	1	220178699	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25859	220178699	29071922	256	5808											
BPNT1	10380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	220247364	220247364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaatgaagaacatatgCtcatctgtgccaatcggtca	10	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220247364C>T	ENST00000469520.2	-	4	619	c.170G>A	c.(169-171)aGc>aAc	p.S57N	BPNT1_ENST00000414869.2_Missense_Mutation_p.S57N|BPNT1_ENST00000544404.1_Missense_Mutation_p.S2N|BPNT1_ENST00000354807.3_Missense_Mutation_p.S57N|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.S57N			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	57					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AGAACATATGCTCATCTGTGC	0.398																																					p.S57N		.											.	BPNT1-91	0			c.G170A						.						182	174	176					1																	220247364		1882	4122	6004	SO:0001583	missense	10380	exon3			CATATGCTCATCT	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.170G>A	1.37:g.220247364C>T	ENSP00000446828:p.Ser57Asn	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	159	34	NM_006085	0	0	0	0	0	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519659	0.85495	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959;ENST00000498237	T;T;T;T;T;T;T;D;T	0.83419	0.75;0.75;0.75;-0.73;0.75;0.75;0.75;-1.72;0.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	M	0.65975	2.015	0.80722	D	1	P;D;P	0.59767	0.627;0.986;0.638	P;P;B	0.56751	0.449;0.805;0.338	D	0.88930	0.3372	10	0.54805	T	0.06	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	57;57;57	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	N	57;57;57;57;2;57;57;57;2;57	ENSP00000318852:S57N;ENSP00000446828:S57N;ENSP00000346862:S57N;ENSP00000444398:S2N;ENSP00000410348:S57N;ENSP00000446953:S57N;ENSP00000446850:S57N;ENSP00000448740:S2N;ENSP00000449883:S57N	ENSP00000307087:S57N	S	-	2	0	BPNT1	218313987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.065000	0.64344	2.579000	0.87056	0.644000	0.83932	AGC	.		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		T	220247364	C	T	220247364	3	4	31	1	0	0	0	0	1	0	0	0	1498	797	28	3	784	3	BPNT1	1	220247364	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	68665	220247364	29003257	257	5809											
HHIPL2	79802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	222705308	222705308	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactctgtacatttgttacCtgcttcatcttcagcaaagg	6	11	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:222705308C>T	ENST00000343410.6	-	6	1781	c.1723G>A	c.(1723-1725)Ggg>Agg	p.G575R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	575					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)		CATTTGTTACCTGCTTCATCT	0.433																																					p.G575R		.											.	HHIPL2-69	0			c.G1723A						.						78	76	77					1																	222705308		2203	4300	6503	SO:0001630	splice_region_variant	79802	exon6			TGTTACCTGCTTC	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.1723+1G>A	1.37:g.222705308C>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	145	49	NM_024746	0	0	0	0	0	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186358	0.78789	.	.	ENSG00000143512	ENST00000343410	T	0.37235	1.21	4.28	4.28	0.50868	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72776	-0.4191	9	.	.	.	-18.1572	15.3894	0.74731	0.0:1.0:0.0:0.0	.	575	Q6UWX4	HIPL2_HUMAN	R	575	ENSP00000342118:G575R	.	G	-	1	0	HHIPL2	220771931	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	7.400000	0.79949	2.304000	0.77564	0.591000	0.81541	GGG	.		0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Missense_Mutation	T	222705308	C	T	222705308	5	4	31	1	0	0	0	0	0	0	1	0	7121	695	24	3	467	3	HHIPL2	1	222705308	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2457944	222705308	26545313	258	5810											
CDC42BPA	8476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	227261686	227261686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctgacatatccagtttcgCaaaacgacgcattttccagg	8	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:227261686C>G	ENST00000366769.3	-	19	3905	c.2614G>C	c.(2614-2616)Gcg>Ccg	p.A872P	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A791P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A872P|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A872P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A872P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A872P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A872P|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCCAGTTTCGCAAAACGACGC	0.383																																					p.A872P		.											.	CDC42BPA-549	0			c.G2614C						.						140	138	139					1																	227261686		2203	4300	6503	SO:0001583	missense	8476	exon19			GTTTCGCAAAACG	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2614G>C	1.37:g.227261686C>G	ENSP00000355731:p.Ala872Pro	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	56	17	NM_003607	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.523275|5.523275	0.96431|0.96431	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;0.988;0.999;0.976;0.997;0.999|.	D;D;P;D;P;P;D|.	0.91635|.	0.999;0.966;0.733;0.986;0.792;0.905;0.942|.	T|T	0.49916|0.49916	-0.8888|-0.8888	10|5	0.33141|.	T|.	0.24|.	.|.	19.8411|19.8411	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	872;872;136;791;872;872;74|.	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	P|S	872;791;872;872;872;136;872;872|74;165;45	ENSP00000355731:A872P;ENSP00000355729:A791P;ENSP00000335341:A872P;ENSP00000355728:A872P;ENSP00000355726:A872P;ENSP00000443275:A872P;ENSP00000355727:A872P|.	ENSP00000335341:A872P|.	A|C	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225328309|225328309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.378000|7.378000	0.79679|0.79679	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCG|TGC	.		0.383	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227261686	C	G	227261686	3	3	31	1	0	0	0	0	1	0	0	0	3079	710	25	3	2617	3	CDC42BPA	1	227261686	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4556378	227261686	21988935	259	5811											
PRSS38	339501	bcgsc.ca	37	chr1	228004947	228004947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctatgacatgtacgtaggcCtcgtaaacctcagggtggcc	11	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228004947C>A	ENST00000366757.3	+	3	373	c.349C>A	c.(349-351)Ctc>Atc	p.L117I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACGTAGGCCTCGTAAACCT	0.552																																					p.L117I		.											.	PRSS38-92	0			c.C349A						.						139	114	122					1																	228004947		2203	4300	6503	SO:0001583	missense	339501	exon3			GTAGGCCTCGTAA		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.349C>A	1.37:g.228004947C>A	ENSP00000355719:p.Leu117Ile	Somatic	78	2		WXS	Illumina GAIIx	Phase_I	173	101	NM_183062	0	0	0	0	0	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001248	0.19121	.	.	ENSG00000185888	ENST00000366757	D	0.88431	-2.38	4.23	0.865	0.19074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.390052	0.19002	N	0.125316	T	0.74336	0.3703	N	0.05487	-0.04	0.09310	N	1	P	0.36616	0.561	B	0.40285	0.325	T	0.66826	-0.5825	10	0.02654	T	1	.	10.5266	0.44952	0.6595:0.3405:0.0:0.0	.	117	A1L453	PRS38_HUMAN	I	117	ENSP00000355719:L117I	ENSP00000355719:L117I	L	+	1	0	PRSS38	226071570	0.050000	0.20438	0.223000	0.23860	0.103000	0.19146	0.253000	0.18296	0.165000	0.19558	0.655000	0.94253	CTC	.		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		A	228004947	C	A	228004947	3	1	31	1	0	0	0	0	1	0	0	0	12669	681	24	3	359	3	PRSS38	1	228004947	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	743261	228004947	21245674	260	5812											
PRSS38	339501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228005027	228005027	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccccacatatgagatGtaccaccccatcggaggtga	9	14	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228005027G>C	ENST00000366757.3	+	3	453	c.429G>C	c.(427-429)atG>atC	p.M143I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CATATGAGATGTACCACCCCA	0.562																																					p.M143I		.											.	PRSS38-92	0			c.G429C						.						182	147	159					1																	228005027		2203	4300	6503	SO:0001583	missense	339501	exon3			TGAGATGTACCAC		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.429G>C	1.37:g.228005027G>C	ENSP00000355719:p.Met143Ile	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	221	53	NM_183062	0	0	0	0	0	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	5.058	0.196326	0.09599	.	.	ENSG00000185888	ENST00000366757	T	0.59638	0.25	4.34	2.36	0.29203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.510730	0.00822	N	0.001592	T	0.37376	0.1001	N	0.04018	-0.295	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.27938	-1.0059	10	0.20046	T	0.44	.	8.1101	0.30909	0.1436:0.0:0.8564:0.0	.	143	A1L453	PRS38_HUMAN	I	143	ENSP00000355719:M143I	ENSP00000355719:M143I	M	+	3	0	PRSS38	226071650	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.087000	0.14958	0.705000	0.31890	0.655000	0.94253	ATG	.		0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		C	228005027	G	C	228005027	3	2	31	1	0	0	0	0	1	0	0	0	12669	1377	48	3	439	3	PRSS38	1	228005027	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	80	228005027	21245594	261	5813											
OBSCN	84033	broad.mit.edu;bcgsc.ca	37	chr1	228465520	228465520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagatccaatttgtaGccgaaaatgcagaatcgcga	11	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228465520G>A	ENST00000422127.1	+	25	6864	c.6820G>A	c.(6820-6822)Gcc>Acc	p.A2274T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2274T|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1121T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2703T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2274					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)				CCAATTTGTAGCCGAAAATGC	0.617																																					p.A2703T		.											.	OBSCN-403	0			c.G8107A						.						69	71	70					1																	228465520		1923	4133	6056	SO:0001583	missense	84033	exon30			TTTGTAGCCGAAA	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.6820G>A	1.37:g.228465520G>A	ENSP00000409493:p.Ala2274Thr	Somatic	323	2		WXS	Illumina GAIIx	Phase_I	533	116	NM_001271223	0	0	0	0	0	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	16.05	3.013093	0.54468	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69435	-0.02;-0.4;-0.06	4.28	4.28	0.50868	.	0.157471	0.40728	N	0.001029	T	0.77432	0.4129	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.91635	0.63;0.999	T	0.75158	-0.3416	10	0.29301	T	0.29	.	16.8913	0.86088	0.0:0.0:1.0:0.0	.	2274;2274	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	2274;2274;1121	ENSP00000284548:A2274T;ENSP00000409493:A2274T;ENSP00000352613:A1121T	ENSP00000284548:A2274T	A	+	1	0	OBSCN	226532143	1.000000	0.71417	0.873000	0.34254	0.108000	0.19459	8.672000	0.91181	2.224000	0.72417	0.313000	0.20887	GCC	.		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228465520	G	A	228465520	3	1	31	1	0	0	0	0	1	0	0	0	10851	971	34	3	6914	3	OBSCN	1	228465520	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	460493	228465520	20785101	262	5814											
OBSCN	84033	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	228469788	228469788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctccagccgcttccaGgccacacgtcagggccgaaa	12	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228469788G>T	ENST00000422127.1	+	31	8396	c.8352G>T	c.(8350-8352)caG>caT	p.Q2784H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q2784H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q1631H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q3213H|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2784	Ig-like 27.				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)				GCCGCTTCCAGGCCACACGTC	0.637																																					p.Q3213H		.											.	OBSCN-403	0			c.G9639T						.						30	37	34					1																	228469788		2060	4203	6263	SO:0001583	missense	84033	exon36			CTTCCAGGCCACA	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.8352G>T	1.37:g.228469788G>T	ENSP00000409493:p.Gln2784His	Somatic	368	2		WXS	Illumina GAIIx	Phase_I	543	322	NM_001271223	0	0	0	0	0	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	5.395	0.258175	0.10239	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.68181	-0.31;-0.31;-0.31	4.45	-0.00165	0.14033	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	1.442910	0.04496	N	0.380448	T	0.67401	0.2889	L	0.39898	1.24	0.21782	N	0.999549	D;B;B	0.62365	0.991;0.001;0.002	P;B;B	0.57620	0.824;0.004;0.013	T	0.52139	-0.8615	10	0.41790	T	0.15	.	3.5406	0.07809	0.0768:0.2387:0.3193:0.3652	.	2784;2784;2784	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	H	2784;2784;1631;483;190	ENSP00000284548:Q2784H;ENSP00000409493:Q2784H;ENSP00000352613:Q1631H	ENSP00000284548:Q2784H	Q	+	3	2	OBSCN	226536411	0.334000	0.24739	0.013000	0.15412	0.025000	0.11179	1.146000	0.31589	-0.203000	0.10251	-0.502000	0.04539	CAG	.		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228469788	G	T	228469788	3	4	31	1	0	0	0	0	1	0	0	0	10851	991	35	3	8470	3	OBSCN	1	228469788	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4268	228469788	20780833	263	5815											
OBSCN	84033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	228496916	228496916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcccgctgggctttaGgaggggtgcccctgcaggcc	18	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228496916G>T	ENST00000422127.1	+	48	12900	c.12856G>T	c.(12856-12858)Gga>Tga	p.G4286*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.G4286*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.G1920*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.G5243*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.G1405*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4286	Ig-like 44.				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)				CTGGGCTTTAGGAGGGGTGCC	0.642																																					p.G5243X		.											.	OBSCN-403	0			c.G15727T						.						20	23	22					1																	228496916		1979	4174	6153	SO:0001587	stop_gained	84033	exon59			GCTTTAGGAGGGG	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.12856G>T	1.37:g.228496916G>T	ENSP00000409493:p.Gly4286*	Somatic	232	1		WXS	Illumina GAIIx	Phase_I	365	98	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	63	73.349299	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.37	5.37	0.77165	.	0.070878	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	17.2365	0.87000	0.0:0.0:1.0:0.0	.	.	.	.	X	4286;4286;1920;1405	.	ENSP00000284548:G4286X	G	+	1	0	OBSCN	226563539	1.000000	0.71417	0.971000	0.41717	0.036000	0.12997	3.609000	0.54117	2.686000	0.91538	0.561000	0.74099	GGA	.		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228496916	G	T	228496916	4	4	31	1	0	0	0	0	0	1	0	0	10851	1001	35	3	13042	3	OBSCN	1	228496916	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	27128	228496916	20753705	264	5816											
OBSCN	84033	bcgsc.ca	37	chr1	228506745	228506745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attagcgagctgccagaggaGgacggccgctcgcagcgcct	15	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228506745G>T	ENST00000422127.1	+	54	14336	c.14292G>T	c.(14290-14292)gaG>gaT	p.E4764D	OBSCN_ENST00000284548.11_Missense_Mutation_p.E4764D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2398D|OBSCN_ENST00000570156.2_Missense_Mutation_p.E5721D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1883D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4764					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)				TGCCAGAGGAGGACGGCCGCT	0.662																																					p.E5721D		.											.	OBSCN-403	0			c.G17163T						.						19	23	22					1																	228506745		2198	4290	6488	SO:0001583	missense	84033	exon65			AGAGGAGGACGGC	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.14292G>T	1.37:g.228506745G>T	ENSP00000409493:p.Glu4764Asp	Somatic	220	4		WXS	Illumina GAIIx	Phase_I	447	237	NM_001271223	0	0	0	0	0	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	14.17	2.456718	0.43634	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70516	-0.1;-0.49;-0.43;0.09	4.03	1.64	0.23874	.	0.000000	0.64402	D	0.000003	T	0.71324	0.3326	L	0.34521	1.04	0.35847	D	0.826447	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.70396	-0.4883	10	0.31617	T	0.26	.	7.9808	0.30183	0.5184:0.0:0.4816:0.0	.	4764;4764	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4764;4764;2398;1883	ENSP00000284548:E4764D;ENSP00000409493:E4764D;ENSP00000355668:E2398D;ENSP00000355670:E1883D	ENSP00000284548:E4764D	E	+	3	2	OBSCN	226573368	0.999000	0.42202	0.973000	0.42090	0.033000	0.12548	0.553000	0.23391	0.165000	0.19558	-0.642000	0.03964	GAG	.		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228506745	G	T	228506745	3	4	31	1	0	0	0	0	1	0	0	0	10851	991	35	3	14502	3	OBSCN	1	228506745	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9829	228506745	20743876	265	5817											
PGBD5	79605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	230468646	230468646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgtcctttgttgtacCagcagatcaaggacatgttc	11	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:230468646C>T	ENST00000525115.1	-	5	1033	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	PGBD5_ENST00000391860.1_Nonsense_Mutation_p.W291*|PGBD5_ENST00000321327.2_Nonsense_Mutation_p.W436*|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	337						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTTGTTGTACCAGCAGATCAA	0.622																																					p.W406X		.											.	PGBD5-93	0			c.G1217A						.						213	177	189					1																	230468646		2203	4300	6503	SO:0001587	stop_gained	79605	exon5			TTGTACCAGCAGA	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1010G>A	1.37:g.230468646C>T	ENSP00000431404:p.Trp337*	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	358	177	NM_001258311	0	0	0	0	0	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Nonsense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	-	39	7.680953	0.98428	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9822	19.7826	0.96422	0.0:1.0:0.0:0.0	.	.	.	.	X	291;436;337	.	ENSP00000322530:W436X	W	-	2	0	PGBD5	228535269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.568000	0.82369	2.679000	0.91253	0.579000	0.79373	TGG	.		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		T	230468646	C	T	230468646	4	4	31	1	0	0	0	0	0	1	0	0	11823	595	21	3	369	3	PGBD5	1	230468646	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1961901	230468646	18781975	266	5818											
TRIM67	440730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231349591	231349591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgtgcaagggggccacCgtgggcgtgctgctggacct	19	11	0	0	rs200465476		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:231349591C>A	ENST00000366653.5	+	9	2154	c.2154C>A	c.(2152-2154)acC>acA	p.T718T	TRIM67_ENST00000366652.2_Silent_p.T718T|TRIM67_ENST00000444294.3_Silent_p.T716T|TRIM67_ENST00000449018.3_Silent_p.T656T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	718	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)				AGGGGGCCACCGTGGGCGTGC	0.602																																					p.T718T		.											.	TRIM67-229	0			c.C2154A						.						101	110	107					1																	231349591		2088	4210	6298	SO:0001819	synonymous_variant	440730	exon9			GGCCACCGTGGGC	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.2154C>A	1.37:g.231349591C>A		Somatic	383	0		WXS	Illumina GAIIx	Phase_I	666	345	NM_001004342	0	0	0	0	0	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																			C|0.998;T|0.002		0.602	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		A	231349591	C	A	231349591	2	1	31	1	0	0	0	0	0	0	0	1	16588	639	23	2		2	TRIM67	1	231349591	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	880945	231349591	17901030	267	5819											
DISC1	27185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231885794	231885794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctggcagcacaagtccagGctgccttgcgccgtggggcc	14	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:231885794G>C	ENST00000602281.1	+	4	1293	c.1240G>C	c.(1240-1242)Gct>Cct	p.A414P	DISC1_ENST00000539444.1_Missense_Mutation_p.A414P|DISC1_ENST00000366636.4_Missense_Mutation_p.A414P|DISC1_ENST00000366633.3_Missense_Mutation_p.A414P|DISC1_ENST00000535983.1_Missense_Mutation_p.A414P|DISC1_ENST00000602873.1_Missense_Mutation_p.A64P|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.A414P|DISC1_ENST00000537876.1_Missense_Mutation_p.A414P|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	414	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACAAGTCCAGGCTGCCTTGCG	0.517																																					p.A446P		.											.	DISC1-91	0			c.G1336C						.						76	76	76					1																	231885794		2203	4300	6503	SO:0001583	missense	27185	exon5			GTCCAGGCTGCCT	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1240G>C	1.37:g.231885794G>C	ENSP00000473425:p.Ala414Pro	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	276	74	NM_001164537	0	0	0	0	0	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.944449	0.73672	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.15256	2.83;2.66;2.65;2.47;2.84;2.48;2.48;2.44	4.32	2.16	0.27623	.	0.298220	0.31872	N	0.006929	T	0.31796	0.0808	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.998;0.996;0.999;0.996;0.998;0.998;0.996;0.998;0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.74023	0.982;0.976;0.982;0.952;0.966;0.93;0.919;0.966;0.936;0.93;0.93;0.919;0.93;0.952;0.966;0.952;0.966;0.952;0.919	T	0.02053	-1.1222	10	0.56958	D	0.05	-2.8721	8.3929	0.32540	0.0:0.0:0.5413:0.4587	.	446;414;446;414;414;414;414;414;64;414;414;414;414;414;414;414;414;414;414	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	P	414;414;414;446;414;414;414;414;414;414;414	ENSP00000403888:A414P;ENSP00000355596:A414P;ENSP00000443996:A414P;ENSP00000440909:A414P;ENSP00000355593:A414P;ENSP00000440953:A414P;ENSP00000295051:A414P;ENSP00000441193:A414P	ENSP00000295051:A414P	A	+	1	0	DISC1	229952417	0.922000	0.31269	0.049000	0.19019	0.839000	0.47603	1.387000	0.34430	0.954000	0.37851	0.655000	0.94253	GCT	.		0.517	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		C	231885794	G	C	231885794	3	2	31	1	0	0	0	0	1	0	0	0	4552	1203	42	3	1613	3	DISC1	1	231885794	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	536203	231885794	17364827	268	5820											
ARID4B	51742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235357437	235357437	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttcaggagatggattTgtctgaaatggtggtttgga	13	4	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235357437T>G	ENST00000264183.3	-	19	2513	c.2016A>C	c.(2014-2016)acA>acC	p.T672T	ARID4B_ENST00000366603.2_Silent_p.T672T|ARID4B_ENST00000349213.3_Silent_p.T586T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	672					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)			GAGATGGATTTGTCTGAAATG	0.353																																					p.T672T		.											.	ARID4B-228	0			c.A2016C						.						163	154	157					1																	235357437		2203	4300	6503	SO:0001819	synonymous_variant	51742	exon19			TGGATTTGTCTGA	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.2016A>C	1.37:g.235357437T>G		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	107	54	NM_016374	0	0	0	0	0	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257989	0.22965	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.22	-0.0461	0.13848	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	-13.8611	0.1455	0.00088	0.3416:0.1676:0.2095:0.2813	.	.	.	.	P	72	.	.	Q	-	2	0	ARID4B	233424060	0.980000	0.34600	1.000000	0.80357	0.972000	0.66771	0.010000	0.13242	0.359000	0.24239	0.454000	0.30748	CAA	.		0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		G	235357437	T	G	235357437	2	3	31	1	0	0	0	0	0	0	0	1	920	1799	63	5		5	ARID4B	1	235357437	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3471643	235357437	13893184	269	5821											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235904873	235904873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcattcggaaggtctccttaCaagaccacagaattttagtc	8	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235904873C>G	ENST00000389794.3	-	31	8381	c.8207G>C	c.(8206-8208)tGt>tCt	p.C2736S	LYST_ENST00000389793.2_Missense_Mutation_p.C2736S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2736					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)			GGTCTCCTTACAAGACCACAG	0.413																																					p.C2736S		.											.	LYST-143	0			c.G8207C						.						126	109	115					1																	235904873		2203	4300	6503	SO:0001583	missense	1130	exon31			TCCTTACAAGACC	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.8207G>C	1.37:g.235904873C>G	ENSP00000374444:p.Cys2736Ser	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	189	42	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071295	0.36566	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61742	0.08;0.08	5.11	4.19	0.49359	.	0.300687	0.44097	N	0.000496	T	0.45054	0.1323	L	0.37561	1.115	0.80722	D	1	B	0.19331	0.035	B	0.17722	0.019	T	0.31503	-0.9941	10	0.10111	T	0.7	.	14.452	0.67392	0.0:0.8533:0.1467:0.0	.	2736	Q99698	LYST_HUMAN	S	2736	ENSP00000374444:C2736S;ENSP00000374443:C2736S	ENSP00000374443:C2736S	C	-	2	0	LYST	233971496	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.111000	0.64628	1.264000	0.44198	0.591000	0.81541	TGT	.		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			G	235904873	C	G	235904873	3	3	31	1	0	0	0	0	1	0	0	0	9164	478	17	3	3290	3	LYST	1	235904873	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	547436	235904873	13345748	270	5822											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	235966313	235966313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acactgagaatcctcagcttCttctgaaaaatcaccaggct	6	12	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235966313C>G	ENST00000389794.3	-	8	3781	c.3607G>C	c.(3607-3609)Gaa>Caa	p.E1203Q	LYST_ENST00000389793.2_Missense_Mutation_p.E1203Q|LYST_ENST00000536965.1_Missense_Mutation_p.E1203Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1203					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)			TCCTCAGCTTCTTCTGAAAAA	0.373																																					p.E1203Q		.											.	LYST-143	0			c.G3607C						.						73	69	70					1																	235966313		2203	4300	6503	SO:0001583	missense	1130	exon8			CAGCTTCTTCTGA	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.3607G>C	1.37:g.235966313C>G	ENSP00000374444:p.Glu1203Gln	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	69	8	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261397	0.80358	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.73047	-0.71;-0.71;0.32	5.2	5.2	0.72013	.	0.100415	0.64402	D	0.000003	D	0.82595	0.5071	M	0.62723	1.935	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.81684	-0.0821	10	0.40728	T	0.16	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	1203;1203	Q99698-3;Q99698	.;LYST_HUMAN	Q	1203	ENSP00000374444:E1203Q;ENSP00000374443:E1203Q;ENSP00000438315:E1203Q	ENSP00000374443:E1203Q	E	-	1	0	LYST	234032936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.515000	0.73751	2.452000	0.82932	0.655000	0.94253	GAA	.		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			G	235966313	C	G	235966313	3	3	31	1	0	0	0	0	1	0	0	0	9164	922	32	3	7982	3	LYST	1	235966313	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	61440	235966313	13284308	271	5823											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235972428	235972428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagtgctgctcaaggaagCctgctgtagtaagcgcaagc	12	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235972428C>A	ENST00000389794.3	-	5	1864	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	LYST_ENST00000389793.2_Missense_Mutation_p.A564S|LYST_ENST00000536965.1_Missense_Mutation_p.A564S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	564					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)			CTCAAGGAAGCCTGCTGTAGT	0.458																																					p.A564S		.											.	LYST-143	0			c.G1690T						.						110	104	106					1																	235972428		2203	4300	6503	SO:0001583	missense	1130	exon5			AGGAAGCCTGCTG	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.1690G>T	1.37:g.235972428C>A	ENSP00000374444:p.Ala564Ser	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	238	124	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986458	0.18889	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68903	-0.36;-0.36;1.33	5.6	5.6	0.85130	.	0.592108	0.18132	N	0.150686	T	0.61788	0.2375	N	0.25647	0.755	0.20821	N	0.999842	P;B	0.40660	0.726;0.258	P;B	0.46049	0.502;0.135	T	0.55477	-0.8135	10	0.28530	T	0.3	.	15.9192	0.79547	0.0:0.8649:0.1351:0.0	.	564;564	Q99698-3;Q99698	.;LYST_HUMAN	S	564	ENSP00000374444:A564S;ENSP00000374443:A564S;ENSP00000438315:A564S	ENSP00000374443:A564S	A	-	1	0	LYST	234039051	1.000000	0.71417	0.923000	0.36655	0.394000	0.30568	3.686000	0.54685	2.634000	0.89283	0.650000	0.86243	GCT	.		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235972428	C	A	235972428	3	1	31	1	0	0	0	0	1	0	0	0	9164	739	26	3	9911	3	LYST	1	235972428	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6115	235972428	13278193	272	5824											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235973763	235973763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctaaatgtaatttttcctGagtggatctttgtgaacttg	8	5	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235973763G>C	ENST00000389794.3	-	5	529	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	LYST_ENST00000389793.2_Missense_Mutation_p.Q119E|LYST_ENST00000536965.1_Missense_Mutation_p.Q119E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	119					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)			AATTTTTCCTGAGTGGATCTT	0.373																																					p.Q119E		.											.	LYST-143	0			c.C355G						.						61	64	63					1																	235973763		2203	4300	6503	SO:0001583	missense	1130	exon5			TTTCCTGAGTGGA	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.355C>G	1.37:g.235973763G>C	ENSP00000374444:p.Gln119Glu	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	50	15	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080120	0.36662	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13307	2.6;2.6;2.6	5.8	5.8	0.92144	.	0.483674	0.23563	N	0.046836	T	0.12135	0.0295	L	0.35723	1.085	0.40606	D	0.98162	B;B	0.33266	0.404;0.101	B;B	0.30316	0.114;0.017	T	0.07751	-1.0756	10	0.06891	T	0.86	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	119;119	Q99698-3;Q99698	.;LYST_HUMAN	E	119	ENSP00000374444:Q119E;ENSP00000374443:Q119E;ENSP00000438315:Q119E	ENSP00000374443:Q119E	Q	-	1	0	LYST	234040386	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.950000	0.75977	2.758000	0.94735	0.563000	0.77884	CAG	.		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235973763	G	C	235973763	3	2	31	1	0	0	0	0	1	0	0	0	9164	1299	45	3	11246	3	LYST	1	235973763	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1335	235973763	13276858	273	5825											
NID1	4811	broad.mit.edu;bcgsc.ca	37	chr1	236157101	236157101	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccccggaggaatgggtcGctgtgggtctgtcgcccccg	16	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236157101G>C	ENST00000264187.6	-	13	2681	c.2599C>G	c.(2599-2601)Cga>Gga	p.R867G	NID1_ENST00000366595.3_Missense_Mutation_p.R734G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	867	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGAATGGGTCGCTGTGGGTCT	0.632																																					p.R867G		.											.	NID1-154	0			c.C2599G						.						37	39	38					1																	236157101		2203	4300	6503	SO:0001583	missense	4811	exon13			TGGGTCGCTGTGG	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.2599C>G	1.37:g.236157101G>C	ENSP00000264187:p.Arg867Gly	Somatic	96	3		WXS	Illumina GAIIx	Phase_I	325	149	NM_002508	0	0	0	0	0	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471208	0.26423	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.61392	0.11;0.11	5.56	2.38	0.29361	Thyroglobulin type-1 (3);	0.517247	0.21246	N	0.077731	T	0.40015	0.1100	L	0.35644	1.08	0.09310	N	0.999999	B;B	0.18166	0.0;0.026	B;B	0.17098	0.001;0.017	T	0.12708	-1.0537	10	0.16896	T	0.51	.	6.3647	0.21447	0.0785:0.1999:0.6102:0.1114	.	734;867	P14543-2;P14543	.;NID1_HUMAN	G	867;734	ENSP00000264187:R867G;ENSP00000355554:R734G	ENSP00000264187:R867G	R	-	1	2	NID1	234223724	0.011000	0.17503	0.257000	0.24404	0.013000	0.08279	1.249000	0.32839	1.316000	0.45131	0.455000	0.32223	CGA	.		0.632	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		C	236157101	G	C	236157101	3	2	31	1	0	0	0	0	1	0	0	0	10453	1095	38	2	1176	2	NID1	1	236157101	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	183338	236157101	13093520	274	5826											
ACTN2	88	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	236902766	236902766	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggagatcaacttcaacacGctgcagaccaagctgcggat	10	12	2	2	rs572167559		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236902766G>C	ENST00000366578.4	+	10	1207	c.1041G>C	c.(1039-1041)acG>acC	p.T347T	ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					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)			ACTTCAACACGCTGCAGACCA	0.597																																					p.T347T		.											.	ACTN2-95	0			c.G1041C						.						142	111	122					1																	236902766		2203	4300	6503	SO:0001819	synonymous_variant	88	exon10			CAACACGCTGCAG	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.1041G>C	1.37:g.236902766G>C		Somatic	170	1		WXS	Illumina GAIIx	Phase_I	274	139	NM_001103	0	0	0	0	0	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																			.		0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		C	236902766	G	C	236902766	2	2	31	1	0	0	0	0	0	0	0	1	205	1074	38	2		2	ACTN2	1	236902766	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	745665	236902766	12347855	275	5827											
ACTN2	88	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	236902815	236902815	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtcctgccttcatgccctccGagggcaagatggtgtcggtg	14	12	1	1	rs572523462		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236902815G>C	ENST00000366578.4	+	10	1256	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E364Q|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	364					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)	p.E364K(1)		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)			CATGCCCTCCGAGGGCAAGAT	0.602																																					p.E364Q		.											.	ACTN2-95	1	Substitution - Missense(1)	large_intestine(1)	c.G1090C						.						88	69	76					1																	236902815		2203	4300	6503	SO:0001583	missense	88	exon10			CCCTCCGAGGGCA	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.1090G>C	1.37:g.236902815G>C	ENSP00000355537:p.Glu364Gln	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	193	54	NM_001103	0	0	0	0	0	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591705	0.66219	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.50813	0.73;0.73	5.51	5.51	0.81932	.	0.089323	0.85682	D	0.000000	T	0.71039	0.3293	M	0.78049	2.395	0.80722	D	1	B;P;D	0.56746	0.229;0.61;0.977	B;P;D	0.76575	0.197;0.549;0.988	T	0.70865	-0.4756	10	0.45353	T	0.12	.	19.4071	0.94651	0.0:0.0:1.0:0.0	.	364;134;364	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	Q	364;364;133	ENSP00000443495:E364Q;ENSP00000355537:E364Q	ENSP00000355537:E364Q	E	+	1	0	ACTN2	234969438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.820000	0.99359	2.585000	0.87301	0.555000	0.69702	GAG	.		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		C	236902815	G	C	236902815	3	2	31	1	0	0	0	0	1	0	0	0	205	1059	37	2	1128	2	ACTN2	1	236902815	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	49	236902815	12347806	276	5828											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	237664056	237664056	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaaaccaacatctgttaaGaactgatgatgtcatcagtt	6	9	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237664056G>T	ENST00000366574.2	+	21	2566	c.2249G>T	c.(2248-2250)aGa>aTa	p.R750I	RYR2_ENST00000542537.1_Missense_Mutation_p.R734I|RYR2_ENST00000360064.6_Missense_Mutation_p.R748I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	750	B30.2/SPRY 1. {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)			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)			CATCTGTTAAGAACTGATGAT	0.393																																					p.R750I		.											.	RYR2-158	0			c.G2249T						.						311	294	299					1																	237664056		1918	4134	6052	SO:0001583	missense	6262	exon21			TGTTAAGAACTGA	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.2249G>T	1.37:g.237664056G>T	ENSP00000355533:p.Arg750Ile	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	237	59	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879291	0.72294	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60171	0.21;0.21;0.21	5.95	3.1	0.35709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.073326	0.49305	D	0.000154	T	0.58438	0.2122	L	0.54323	1.7	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.57230	-0.7847	10	0.66056	D	0.02	.	7.082	0.25237	0.1986:0.1231:0.6782:0.0	.	750	Q92736	RYR2_HUMAN	I	750;748;734	ENSP00000355533:R750I;ENSP00000353174:R748I;ENSP00000443798:R734I	ENSP00000353174:R748I	R	+	2	0	RYR2	235730679	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	1.821000	0.39041	0.429000	0.26202	0.650000	0.86243	AGA	.		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237664056	G	T	237664056	3	4	31	1	0	0	0	0	1	0	0	0	13814	942	33	3	2331	3	RYR2	1	237664056	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	761241	237664056	11586565	277	5829											
RYR2	6262	ucsc.edu;bcgsc.ca	37	chr1	237666655	237666655	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctgggtatgctccTtgttatgaagctgttctgcc	9	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237666655T>A	ENST00000366574.2	+	22	2780	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	RYR2_ENST00000542537.1_Silent_p.P805P|RYR2_ENST00000360064.6_Silent_p.P819P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	821					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)			GGTATGCTCCTTGTTATGAAG	0.463																																					p.P821P		.											.	RYR2-158	0			c.T2463A						.						87	84	85					1																	237666655		1915	4128	6043	SO:0001819	synonymous_variant	6262	exon22			TGCTCCTTGTTAT	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.2463T>A	1.37:g.237666655T>A		Somatic	119	2		WXS	Illumina GAIIx	Phase_I	188	100	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237666655	T	A	237666655	2	1	31	1	0	0	0	0	0	0	0	1	13814	1596	56	5		5	RYR2	1	237666655	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2599	237666655	11583966	278	5830											
RYR2	6262	ucsc.edu;bcgsc.ca	37	chr1	237801682	237801682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgttatttggctggttgtgGactgcaaagttgccagatgc	13	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237801682G>T	ENST00000366574.2	+	45	7135	c.6818G>T	c.(6817-6819)gGa>gTa	p.G2273V	RYR2_ENST00000542537.1_Missense_Mutation_p.G2257V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2271V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2273	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)			GCTGGTTGTGGACTGCAAAGT	0.413																																					p.G2273V		.											.	RYR2-158	0			c.G6818T						.						255	247	249					1																	237801682		1921	4135	6056	SO:0001583	missense	6262	exon45			GTTGTGGACTGCA	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.6818G>T	1.37:g.237801682G>T	ENSP00000355533:p.Gly2273Val	Somatic	166	3		WXS	Illumina GAIIx	Phase_I	270	81	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621876	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97209	-4.29;-4.29;-4.29	5.31	5.31	0.75309	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000007	D	0.98349	0.9452	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	10	0.87932	D	0	-14.169	19.348	0.94373	0.0:0.0:1.0:0.0	.	2273	Q92736	RYR2_HUMAN	V	2273;2271;2257	ENSP00000355533:G2273V;ENSP00000353174:G2271V;ENSP00000443798:G2257V	ENSP00000353174:G2271V	G	+	2	0	RYR2	235868305	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	9.813000	0.99286	2.627000	0.88993	0.561000	0.74099	GGA	.		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237801682	G	T	237801682	3	4	31	1	0	0	0	0	1	0	0	0	13814	1174	41	3	6996	3	RYR2	1	237801682	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	135027	237801682	11448939	279	5831											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	237811775	237811775	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggaacctgacatgtctgcGgggttttgcccagatcacaa	12	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237811775G>T	ENST00000366574.2	+	49	7691	c.7374G>T	c.(7372-7374)gcG>gcT	p.A2458A	RYR2_ENST00000542537.1_Silent_p.A2442A|RYR2_ENST00000360064.6_Silent_p.A2456A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	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)			ACATGTCTGCGGGGTTTTGCC	0.458																																					p.A2458A		.											.	RYR2-158	0			c.G7374T						.						96	90	92					1																	237811775		1908	4136	6044	SO:0001819	synonymous_variant	6262	exon49			GTCTGCGGGGTTT	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.7374G>T	1.37:g.237811775G>T		Somatic	179	0		WXS	Illumina GAIIx	Phase_I	269	33	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237811775	G	T	237811775	2	4	31	1	0	0	0	0	0	0	0	1	13814	1103	39	2		2	RYR2	1	237811775	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	10093	237811775	11438846	280	5832											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	237870480	237870480	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacagccctgaactcagAgcacatgaacacacttctag	7	14	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237870480A>T	ENST00000366574.2	+	68	10129	c.9812A>T	c.(9811-9813)gAg>gTg	p.E3271V	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E3255V|RYR2_ENST00000360064.6_Missense_Mutation_p.E3269V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3271					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)			CTGAACTCAGAGCACATGAAC	0.483																																					p.E3271V		.											.	RYR2-158	0			c.A9812T						.						57	55	56					1																	237870480		2013	4176	6189	SO:0001583	missense	6262	exon68			ACTCAGAGCACAT	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.9812A>T	1.37:g.237870480A>T	ENSP00000355533:p.Glu3271Val	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	271	72	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618422	0.66787	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97089	-0.43;-4.24;-0.43	5.72	5.72	0.89469	.	0.078709	0.47852	D	0.000204	D	0.96442	0.8839	M	0.78049	2.395	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	D	0.94329	0.7560	10	0.87932	D	0	-18.0956	16.0156	0.80439	1.0:0.0:0.0:0.0	.	3271	Q92736	RYR2_HUMAN	V	3271;3269;3255;226	ENSP00000355533:E3271V;ENSP00000353174:E3269V;ENSP00000443798:E3255V	ENSP00000353174:E3269V	E	+	2	0	RYR2	235937103	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.287000	0.95975	2.189000	0.69895	0.533000	0.62120	GAG	.		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237870480	A	T	237870480	3	4	31	1	0	0	0	0	1	0	0	0	13814	304	11	5	10082	5	RYR2	1	237870480	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	58705	237870480	11380141	281	5833											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	237890397	237890397	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctacctcaggtggaacatcCtcagagatctaaaaaggctg	9	10	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237890397C>G	ENST00000366574.2	+	76	11053	c.10736C>G	c.(10735-10737)cCt>cGt	p.P3579R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.P3563R|RYR2_ENST00000360064.6_Missense_Mutation_p.P3577R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3579					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)			GTGGAACATCCTCAGAGATCT	0.393																																					p.P3579R		.											.	RYR2-158	0			c.C10736G						.						77	74	75					1																	237890397		1844	4084	5928	SO:0001583	missense	6262	exon76			AACATCCTCAGAG	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.10736C>G	1.37:g.237890397C>G	ENSP00000355533:p.Pro3579Arg	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	119	51	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504404	0.85176	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98150	-4.75;-4.73;-4.75	4.98	4.98	0.66077	.	0.000000	0.56097	U	0.000022	D	0.98865	0.9616	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99816	1.1044	10	0.87932	D	0	-12.1731	18.6478	0.91418	0.0:1.0:0.0:0.0	.	3579	Q92736	RYR2_HUMAN	R	3579;3577;3563;534	ENSP00000355533:P3579R;ENSP00000353174:P3577R;ENSP00000443798:P3563R	ENSP00000353174:P3577R	P	+	2	0	RYR2	235957020	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.776000	0.85560	2.475000	0.83589	0.650000	0.86243	CCT	.		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237890397	C	G	237890397	3	3	31	1	0	0	0	0	1	0	0	0	13814	681	24	3	11038	3	RYR2	1	237890397	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	19917	237890397	11360224	282	5834											
RYR2	6262	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	237947789	237947789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgacccttatgcgaatgctCagtctgaagagcctgaagaa	10	9	2	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237947789C>T	ENST00000366574.2	+	90	13094	c.12777C>T	c.(12775-12777)ctC>ctT	p.L4259L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.L4243L|RYR2_ENST00000360064.6_Silent_p.L4265L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4259					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)			TGCGAATGCTCAGTCTGAAGA	0.483																																					p.L4259L		.											.	RYR2-158	0			c.C12777T						.						53	55	55					1																	237947789		1925	4123	6048	SO:0001819	synonymous_variant	6262	exon90			AATGCTCAGTCTG	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.12777C>T	1.37:g.237947789C>T		Somatic	128	1		WXS	Illumina GAIIx	Phase_I	157	42	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947789	C	T	237947789	2	4	31	1	0	0	0	0	0	0	0	1	13814	813	29	3		3	RYR2	1	237947789	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	57392	237947789	11302832	283	5835											
RYR2	6262	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	237947964	237947964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctgcttgggggaagcCtcgtcgaaggtgctaaaaag	15	9	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237947964C>A	ENST00000366574.2	+	90	13269	c.12952C>A	c.(12952-12954)Ctc>Atc	p.L4318I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L4302I|RYR2_ENST00000360064.6_Missense_Mutation_p.L4324I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4318					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)			TGGGGGAAGCCTCGTCGAAGG	0.512																																					p.L4318I		.											.	RYR2-158	0			c.C12952A						.						80	77	78					1																	237947964		1917	4132	6049	SO:0001583	missense	6262	exon90			GGAAGCCTCGTCG	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.12952C>A	1.37:g.237947964C>A	ENSP00000355533:p.Leu4318Ile	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	182	93	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676868	0.29783	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97016	-0.39;-4.21;-0.39	5.11	2.05	0.26809	.	0.000000	0.49916	D	0.000125	D	0.96531	0.8868	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.957	D	0.93856	0.7149	10	0.23891	T	0.37	-8.4621	8.2014	0.31428	0.0:0.6728:0.0:0.3272	.	1292;4318	B4DGV4;Q92736	.;RYR2_HUMAN	I	4318;4324;4302;1292	ENSP00000355533:L4318I;ENSP00000353174:L4324I;ENSP00000443798:L4302I	ENSP00000353174:L4324I	L	+	1	0	RYR2	236014587	1.000000	0.71417	0.941000	0.38009	0.049000	0.14656	0.850000	0.27737	0.671000	0.31185	-0.345000	0.07892	CTC	.		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237947964	C	A	237947964	3	1	31	1	0	0	0	0	1	0	0	0	13814	681	24	3	13310	3	RYR2	1	237947964	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	175	237947964	11302657	284	5836											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	237954769	237954770	+	Missense_Mutation	DNP	CC	CC	AA													ttacaacatgagaatgttagCcttatttgtcgcatttgcta							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237954769_237954770CC>AA	ENST00000366574.2	+	93	13834_13835	c.13517_13518CC>AA	c.(13516-13518)gCC>gAA	p.A4506E	RYR2_ENST00000542537.1_Missense_Mutation_p.A4490E|RYR2_ENST00000360064.6_Missense_Mutation_p.A4512E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4506					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)			AGAATGTTAGCCTTATTTGTCG	0.342																																					p.A4512E		.											.	RYR2-158	0			c.C13518A						.																																			SO:0001583	missense	6262	exon93			GTTAGCCTTATTT	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	Exception_encountered	1.37:g.237954769_237954770delinsAA	ENSP00000355533:p.Ala4506Glu	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	139	8	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	DNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.342	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		AA	237954770	CC	AA	237954769	3	1	31	1	0	0	0	0	1	0	0	0	13814	739	26	3	13887	3	RYR2	1	237954769	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	6805	237954769	11295852	285	5837											
ZP4	57829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	238048794	238048794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaggggtctgttctgtgaaGgatggagacctccacgtaaa	14	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:238048794G>C	ENST00000366570.4	-	8	1215	c.1057C>G	c.(1057-1059)Ctt>Gtt	p.L353V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	353	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)			GTTCTGTGAAGGATGGAGACC	0.537																																					p.L353V	NSCLC(166;160 2029 11600 18754 19936)	.											.	ZP4-93	0			c.C1057G						.						67	67	67					1																	238048794		2203	4300	6503	SO:0001583	missense	57829	exon8			TGTGAAGGATGGA	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.1057C>G	1.37:g.238048794G>C	ENSP00000355529:p.Leu353Val	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	387	57	NM_021186	0	0	0	0	0	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779055	0.31502	.	.	ENSG00000116996	ENST00000366570	D	0.83075	-1.68	4.95	3.06	0.35304	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.312207	0.30093	N	0.010422	D	0.88250	0.6386	M	0.75777	2.31	0.09310	N	1	P	0.50710	0.938	D	0.66351	0.943	T	0.79125	-0.1932	10	0.56958	D	0.05	-4.3464	8.0466	0.30553	0.0854:0.0:0.7574:0.1572	.	353	Q12836	ZP4_HUMAN	V	353	ENSP00000355529:L353V	ENSP00000355529:L353V	L	-	1	0	ZP4	236115417	0.918000	0.31147	0.303000	0.25071	0.253000	0.25986	1.325000	0.33724	0.484000	0.27630	0.655000	0.94253	CTT	.		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			C	238048794	G	C	238048794	3	2	31	1	0	0	0	0	1	0	0	0	18266	1000	35	3	585	3	ZP4	1	238048794	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	94025	238048794	11201827	286	5838											
ZP4	57829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	238049161	238049161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggagagagttgctacttaCtgagtagctgcagctgacat	13	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:238049161C>A	ENST00000366570.4	-	7	1023	c.865G>T	c.(865-867)Gta>Tta	p.V289L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	289	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)			TTGCTACTTACTGAGTAGCTG	0.483																																					p.V289L	NSCLC(166;160 2029 11600 18754 19936)	.											.	ZP4-93	0			c.G865T						.						145	140	142					1																	238049161		2203	4300	6503	SO:0001583	missense	57829	exon7			TACTTACTGAGTA	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.865G>T	1.37:g.238049161C>A	ENSP00000355529:p.Val289Leu	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	182	29	NM_021186	0	0	0	0	0	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427542	0.43122	.	.	ENSG00000116996	ENST00000366570	T	0.80738	-1.41	4.85	-1.23	0.09465	Zona pellucida sperm-binding protein (3);	0.743246	0.12760	N	0.441421	T	0.58538	0.2129	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.40776	-0.9545	10	0.09843	T	0.71	-2.3286	4.5949	0.12325	0.0:0.4124:0.2965:0.2911	.	289	Q12836	ZP4_HUMAN	L	289	ENSP00000355529:V289L	ENSP00000355529:V289L	V	-	1	0	ZP4	236115784	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-0.271000	0.08572	-0.192000	0.10432	0.650000	0.86243	GTA	.		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238049161	C	A	238049161	3	1	31	1	0	0	0	0	1	0	0	0	18266	565	20	3	781	3	ZP4	1	238049161	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	367	238049161	11201460	287	5839											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	240371788	240371788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccagctcccccactcCctccacctgggacaggaatc	7	20	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:240371788C>A	ENST00000319653.9	+	5	3906	c.3676C>A	c.(3676-3678)Cct>Act	p.P1226T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1226	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)			TCCCCCACTCCCTCCACCTGG	0.622																																					p.P1226T		.											.	FMN2-145	0			c.C3676A						.						30	29	29					1																	240371788		2202	4299	6501	SO:0001583	missense	56776	exon5			CCACTCCCTCCAC	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.3676C>A	1.37:g.240371788C>A	ENSP00000318884:p.Pro1226Thr	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	214	71	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	1.310	-0.602495	0.03744	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	2.99	2.01	0.26516	Actin-binding FH2 (1);Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.513346	0.13821	U	0.360434	T	0.60366	0.2263	L	0.60455	1.87	0.80722	D	1	P	0.43826	0.818	P	0.44647	0.456	T	0.56649	-0.7944	9	.	.	.	.	10.4766	0.44667	0.0:0.7991:0.2009:0.0	.	1226	Q9NZ56	FMN2_HUMAN	T	1226	ENSP00000318884:P1226T	.	P	+	1	0	FMN2	238438411	0.003000	0.15002	0.054000	0.19295	0.159000	0.22180	1.173000	0.31920	0.551000	0.29008	0.472000	0.43445	CCT	.		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371788	C	A	240371788	3	1	31	1	0	0	0	0	1	0	0	0	5972	623	22	3	3694	3	FMN2	1	240371788	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2322627	240371788	8878833	288	5840											
KMO	8564	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	241725612	241725612	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgggtacatggagttgactAttccacctaagaacggagat	11	7	0	3	rs549995969		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:241725612A>T	ENST00000366559.4	+	7	906	c.595A>T	c.(595-597)Att>Ttt	p.I199F	KMO_ENST00000366557.4_Missense_Mutation_p.I199F|KMO_ENST00000366558.3_Missense_Mutation_p.I199F	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGAGTTGACTATTCCACCTAA	0.468																																					p.I199F		.											.	KMO-92	0			c.A595T						.						228	204	212					1																	241725612		2203	4300	6503	SO:0001583	missense	8564	exon7			TTGACTATTCCAC	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.595A>T	1.37:g.241725612A>T	ENSP00000355517:p.Ile199Phe	Somatic	229	1		WXS	Illumina GAIIx	Phase_I	422	155	NM_003679	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434517	0.83776	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.43294	0.95;0.95;0.95	5.57	5.57	0.84162	Monooxygenase, FAD-binding (1);	0.041854	0.85682	D	0.000000	T	0.64394	0.2594	M	0.81614	2.55	0.80722	D	1	D;D;D	0.65815	0.984;0.993;0.995	P;D;D	0.64687	0.903;0.928;0.918	T	0.69800	-0.5047	10	0.87932	D	0	.	13.6795	0.62474	1.0:0.0:0.0:0.0	.	199;199;199	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	F	199	ENSP00000355517:I199F;ENSP00000355516:I199F;ENSP00000355515:I199F	ENSP00000355515:I199F	I	+	1	0	KMO	239792235	1.000000	0.71417	0.929000	0.37066	0.736000	0.42039	8.571000	0.90752	2.110000	0.64415	0.459000	0.35465	ATT	.		0.468	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		T	241725612	A	T	241725612	3	4	31	1	0	0	0	0	1	0	0	0	8451	449	16	5	621	5	KMO	1	241725612	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1353824	241725612	7525009	289	5841											
WDR64	128025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	241846794	241846794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgtttctaggaaaaTtattttgtcataaaaccaat	4	5	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:241846794T>C	ENST00000366552.2	+	6	807	c.600T>C	c.(598-600)aaT>aaC	p.N200N	WDR64_ENST00000437684.2_Silent_p.N200N|WDR64_ENST00000461971.1_3'UTR	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	200										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCTAGGAAAATTATTTTGTCA	0.378																																					p.N200N		.											.	WDR64-91	0			c.T600C						.						21	19	19					1																	241846794		692	1591	2283	SO:0001819	synonymous_variant	128025	exon6			GGAAAATTATTTT	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.600T>C	1.37:g.241846794T>C		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	98	21	NM_144625	0	0	0	0	0	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																				.		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		C	241846794	T	C	241846794	2	2	31	1	0	0	0	0	0	0	0	1	17364	1490	52	4		4	WDR64	1	241846794	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	121182	241846794	7403827	290	5842											
CEP170	9859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	243349332	243349332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctgttttaacaatttccCatgtggaacaccatgccccc	5	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:243349332C>A	ENST00000366542.1	-	10	1366	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	439						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AACAATTTCCCATGTGGAACA	0.458																																					p.G439W		.											.	CEP170-93	0			c.G1315T						.						70	61	64					1																	243349332		1870	4104	5974	SO:0001583	missense	9859	exon10			ATTTCCCATGTGG	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1315G>T	1.37:g.243349332C>A	ENSP00000355500:p.Gly439Trp	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	305	116	NM_014812	0	0	0	0	0	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.407712|3.407712	0.62399|0.62399	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000424081|ENST00000336415	T|.	0.45668|.	0.89|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.056658|.	0.64402|.	D|.	0.000002|.	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.61940|.	0.896|.	T|T	0.57207|0.57207	-0.7851|-0.7851	10|5	0.72032|.	D|.	0.01|.	-11.562|-11.562	17.9417|17.9417	0.89027|0.89027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	439|.	Q5SW79|.	CE170_HUMAN|.	W|I	439;337|402	ENSP00000355500:G439W|.	ENSP00000355500:G439W|.	G|M	-|-	1|3	0|0	CEP170|CEP170	241415955|241415955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.556000|3.556000	0.53734|0.53734	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GGG|ATG	.		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243349332	C	A	243349332	3	1	31	1	0	0	0	0	1	0	0	0	3257	594	21	3	3513	3	CEP170	1	243349332	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1502538	243349332	5901289	291	5843											
CEP170	9859	broad.mit.edu;bcgsc.ca	37	chr1	243354352	243354352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtacactggaacatcaCttttaatgcttttagaatcc	5	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:243354352C>A	ENST00000366542.1	-	8	1127	c.1076G>T	c.(1075-1077)aGt>aTt	p.S359I	CEP170_ENST00000366544.1_Missense_Mutation_p.S359I|CEP170_ENST00000366543.1_Missense_Mutation_p.S359I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	359						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGGAACATCACTTTTAATGCT	0.373																																					p.S359I		.											.	CEP170-93	0			c.G1076T						.						27	25	26					1																	243354352		1831	4078	5909	SO:0001583	missense	9859	exon8			ACATCACTTTTAA	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1076G>T	1.37:g.243354352C>A	ENSP00000355500:p.Ser359Ile	Somatic	202	1		WXS	Illumina GAIIx	Phase_I	228	53	NM_001042405	0	0	0	0	0	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.244154|4.244154	0.79912|0.79912	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.68903|.	-0.36;-0.25;-0.25|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75213|0.75213	0.3819|0.3819	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.75569|0.75569	-0.3272|-0.3272	10|5	0.72032|.	D|.	0.01|.	-13.1561|-13.1561	18.1223|18.1223	0.89576|0.89576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359;359;359|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	I|L	359;359;359;257|261	ENSP00000355500:S359I;ENSP00000355502:S359I;ENSP00000355501:S359I|.	ENSP00000355500:S359I|.	S|V	-|-	2|1	0|0	CEP170|CEP170	241420975|241420975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.332000|7.332000	0.79203|0.79203	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	AGT|GTG	.		0.373	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243354352	C	A	243354352	3	1	31	1	0	0	0	0	1	0	0	0	3257	565	20	3	3760	3	CEP170	1	243354352	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5020	243354352	5896269	292	5844											
KIF26B	55083	ucsc.edu;bcgsc.ca	37	chr1	245583020	245583020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagacttccacaggcaCatcggtggccgcctccttct	10	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245583020C>T	ENST00000407071.2	+	4	1579	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	380					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCACAGGCACATCGGTGGCC	0.592																																					p.T380I		.											.	KIF26B-25	0			c.C1139T						.						94	97	96					1																	245583020		1998	4169	6167	SO:0001583	missense	55083	exon4			CAGGCACATCGGT	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1139C>T	1.37:g.245583020C>T	ENSP00000385545:p.Thr380Ile	Somatic	282	3		WXS	Illumina GAIIx	Phase_I	496	119	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310424	0.60414	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.56	5.56	0.83823	.	.	.	.	.	T	0.79782	0.4505	M	0.64997	1.995	0.80722	D	1	B	0.32324	0.364	B	0.28784	0.094	T	0.79557	-0.1754	9	0.59425	D	0.04	.	19.5433	0.95282	0.0:1.0:0.0:0.0	.	380	Q2KJY2	KI26B_HUMAN	I	380	ENSP00000385545:T380I	ENSP00000385545:T380I	T	+	2	0	KIF26B	243649643	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.656000	0.61483	2.594000	0.87642	0.643000	0.83706	ACA	.		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245583020	C	T	245583020	3	4	31	1	0	0	0	0	1	0	0	0	8322	478	17	3	1153	3	KIF26B	1	245583020	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2228668	245583020	3667601	293	5845											
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	245766029	245766029	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttccaaaagagaggcaacCaggttcctccaaagatgttt	8	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245766029C>G	ENST00000407071.2	+	6	1941	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	KIF26B_ENST00000366518.4_Missense_Mutation_p.Q120E	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	501	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGAGGCAACCAGGTTCCTCC	0.502																																					p.Q501E		.											.	KIF26B-25	0			c.C1501G						.						125	124	125					1																	245766029		1912	4135	6047	SO:0001583	missense	55083	exon6			GGCAACCAGGTTC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1501C>G	1.37:g.245766029C>G	ENSP00000385545:p.Gln501Glu	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	315	29	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	5.162	0.215377	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.74002	-0.8;-0.8	5.43	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.68751	0.3035	N	0.17723	0.515	0.43238	D	0.995143	D;P	0.56521	0.976;0.834	P;P	0.56563	0.801;0.765	T	0.65446	-0.6166	9	0.02654	T	1	.	15.7997	0.78443	0.1374:0.8626:0.0:0.0	.	120;501	B7WPD9;Q2KJY2	.;KI26B_HUMAN	E	501;120;117	ENSP00000385545:Q501E;ENSP00000355475:Q120E	ENSP00000355475:Q120E	Q	+	1	0	KIF26B	243832652	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	3.173000	0.50839	1.401000	0.46761	0.655000	0.94253	CAG	.		0.502	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		G	245766029	C	G	245766029	3	3	31	1	0	0	0	0	1	0	0	0	8322	595	21	3	1523	3	KIF26B	1	245766029	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	183009	245766029	3484592	294	5846											
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	245849362	245849362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcacccaggagcgtccCgggcagcagtagccagcaca	13	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245849362C>A	ENST00000407071.2	+	12	3517	c.3077C>A	c.(3076-3078)cCg>cAg	p.P1026Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P645Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1026					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCGTCCCGGGCAGCAGT	0.701																																					p.P1026Q		.											.	KIF26B-25	0			c.C3077A						.						8	13	11					1																	245849362		2074	4165	6239	SO:0001583	missense	55083	exon12			GCGTCCCGGGCAG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3077C>A	1.37:g.245849362C>A	ENSP00000385545:p.Pro1026Gln	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	181	77	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900013	0.52227	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76839	-1.05;-1.05	5.77	5.77	0.91146	.	.	.	.	.	D	0.85626	0.5740	M	0.77103	2.36	0.41164	D	0.986119	D;D	0.59767	0.986;0.986	P;P	0.55112	0.769;0.689	D	0.83429	0.0037	9	0.29301	T	0.29	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	645;1026	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1026;645;642	ENSP00000385545:P1026Q;ENSP00000355475:P645Q	ENSP00000355475:P645Q	P	+	2	0	KIF26B	243915985	0.958000	0.32768	0.993000	0.49108	0.373000	0.29922	2.312000	0.43726	2.744000	0.94065	0.561000	0.74099	CCG	.		0.701	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245849362	C	A	245849362	3	1	31	1	0	0	0	0	1	0	0	0	8322	652	23	2	3123	2	KIF26B	1	245849362	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	83333	245849362	3401259	295	5847											
KIF26B	55083	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	245849536	245849536	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagtacaagccacccagctCtccttcccagagatgcaaag	9	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245849536C>A	ENST00000407071.2	+	12	3691	c.3251C>A	c.(3250-3252)tCt>tAt	p.S1084Y	KIF26B_ENST00000366518.4_Missense_Mutation_p.S703Y	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1084					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCACCCAGCTCTCCTTCCCAG	0.657																																					p.S1084Y		.											.	KIF26B-25	0			c.C3251A						.						46	53	51					1																	245849536		1957	4158	6115	SO:0001583	missense	55083	exon12			CCAGCTCTCCTTC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3251C>A	1.37:g.245849536C>A	ENSP00000385545:p.Ser1084Tyr	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	366	208	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101042	0.76983	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80566	-1.39;-1.38	5.77	5.77	0.91146	.	.	.	.	.	D	0.90321	0.6972	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	D	0.90542	0.4503	9	0.72032	D	0.01	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	703;1084	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Y	1084;703;700	ENSP00000385545:S1084Y;ENSP00000355475:S703Y	ENSP00000355475:S703Y	S	+	2	0	KIF26B	243916159	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.800000	0.69108	2.744000	0.94065	0.561000	0.74099	TCT	.		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245849536	C	A	245849536	3	1	31	1	0	0	0	0	1	0	0	0	8322	913	32	3	3297	3	KIF26B	1	245849536	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	174	245849536	3401085	296	5848											
OR2C3	81472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	247694914	247694914	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aataccatgtgccggagggcGctcttcacctccgtgttcct	10	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247694914G>C	ENST00000366487.3	-	2	1261	c.900C>G	c.(898-900)agC>agG	p.S300R	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCGGAGGGCGCTCTTCACCT	0.522																																					p.S300R		.											.	OR2C3-70	0			c.C900G						.						75	67	70					1																	247694914		2203	4300	6503	SO:0001583	missense	81472	exon2			GAGGGCGCTCTTC	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.900C>G	1.37:g.247694914G>C	ENSP00000355443:p.Ser300Arg	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	274	83	NM_198074	0	0	0	0	0	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112977	0.20795	.	.	ENSG00000196242	ENST00000366487	T	0.35236	1.32	3.84	-3.66	0.04489	.	1.964860	0.03266	U	0.183991	T	0.17450	0.0419	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.45353	T	0.12	.	0.3858	0.00402	0.3498:0.1483:0.2783:0.2236	.	300	Q8N628	OR2C3_HUMAN	R	300	ENSP00000355443:S300R	ENSP00000355443:S300R	S	-	3	2	OR2C3	245761537	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-3.107000	0.00601	-0.783000	0.04534	-0.320000	0.08662	AGC	.		0.522	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		C	247694914	G	C	247694914	3	2	31	1	0	0	0	0	1	0	0	0	11032	1078	38	2	66	2	OR2C3	1	247694914	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1845378	247694914	1555707	297	5849											
OR2G3	81469	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	247769018	247769018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacccttgtgggaaacttcaCcataatcatcatctcatatc	5	12	4	0	rs200831993		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247769018C>A	ENST00000320002.2	+	1	163	c.131C>A	c.(130-132)aCc>aAc	p.T44N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(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)			GGAAACTTCACCATAATCATC	0.448																																					p.T44N		.											.	OR2G3-68	0			c.C131A						.						251	252	251					1																	247769018		2203	4300	6503	SO:0001583	missense	81469	exon1			ACTTCACCATAAT	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.131C>A	1.37:g.247769018C>A	ENSP00000326301:p.Thr44Asn	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	208	54	NM_001001914	0	0	0	0	0	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457390	0.43634	.	.	ENSG00000177476	ENST00000320002	T	0.01092	5.35	3.79	0.527	0.17084	GPCR, rhodopsin-like superfamily (1);	0.410513	0.17450	U	0.173840	T	0.04543	0.0124	M	0.91406	3.205	0.09310	N	1	P	0.49090	0.919	P	0.53861	0.736	T	0.14448	-1.0472	10	0.62326	D	0.03	.	4.4286	0.11517	0.0:0.4871:0.2889:0.224	.	44	Q8NGZ4	OR2G3_HUMAN	N	44	ENSP00000326301:T44N	ENSP00000326301:T44N	T	+	2	0	OR2G3	245835641	0.000000	0.05858	0.082000	0.20525	0.017000	0.09413	-0.985000	0.03751	0.384000	0.24942	0.486000	0.48141	ACC	C|0.999;A|0.001		0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			A	247769018	C	A	247769018	3	1	31	1	0	0	0	0	1	0	0	0	11038	507	18	3	133	3	OR2G3	1	247769018	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	74104	247769018	1481603	298	5850											
OR2G3	81469	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	247769252	247769252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacatggccttggatcGgtacattgctgtctgcaaac	12	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247769252G>A	ENST00000320002.2	+	1	397	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTTGGATCGGTACATTGCT	0.507																																					p.R122Q		.											.	OR2G3-68	0			c.G365A						.						237	209	219					1																	247769252		2203	4300	6503	SO:0001583	missense	81469	exon1			TGGATCGGTACAT	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.365G>A	1.37:g.247769252G>A	ENSP00000326301:p.Arg122Gln	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	379	47	NM_001001914	0	0	0	0	0	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824940	0.32237	.	.	ENSG00000177476	ENST00000320002	T	0.76968	-1.06	3.8	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.499351	0.14840	N	0.295330	T	0.81437	0.4822	H	0.96015	3.755	0.24971	N	0.991661	B	0.33748	0.423	B	0.26770	0.073	T	0.75286	-0.3371	10	0.87932	D	0	.	9.2451	0.37520	0.1514:0.0:0.8486:0.0	.	122	Q8NGZ4	OR2G3_HUMAN	Q	122	ENSP00000326301:R122Q	ENSP00000326301:R122Q	R	+	2	0	OR2G3	245835875	0.995000	0.38212	0.027000	0.17364	0.265000	0.26407	5.954000	0.70298	0.346000	0.23899	0.492000	0.49549	CGG	.		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			A	247769252	G	A	247769252	3	1	31	1	0	0	0	0	1	0	0	0	11038	1116	39	1	367	1	OR2G3	1	247769252	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	234	247769252	1481369	299	5851											
OR11L1	391189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248004443	248004443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatggagatcatggtcccGtagtagagagtgacaacagc	12	8	1	3	rs201677584		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248004443G>T	ENST00000355784.2	-	1	811	c.756C>A	c.(754-756)taC>taA	p.Y252*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	252						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGGTCCCGTAGTAGAGAG	0.493																																					p.Y252X		.											.	OR11L1-71	0			c.C756A						.						112	108	109					1																	248004443		2203	4300	6503	SO:0001587	stop_gained	391189	exon1			GGTCCCGTAGTAG	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.756C>A	1.37:g.248004443G>T	ENSP00000348033:p.Tyr252*	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	332	132	NM_001001959	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971985	0.34754	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.42	-2.58	0.06228	.	0.000000	0.31624	U	0.007340	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5527	0.50729	0.5712:0.0:0.4288:0.0	.	.	.	.	X	252	.	ENSP00000348033:Y252X	Y	-	3	2	OR11L1	246071066	0.000000	0.05858	0.108000	0.21378	0.331000	0.28603	-0.674000	0.05233	-0.581000	0.05937	-1.417000	0.01113	TAC	G|0.999;A|0.000		0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		T	248004443	G	T	248004443	4	4	31	1	0	0	0	0	0	1	0	0	10969	1140	40	2	216	2	OR11L1	1	248004443	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	235191	248004443	1246178	300	5852											
TRIM58	25893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248039228	248039228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaagctggatcccgccacgGcgcacccgagtctgctcttg	11	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248039228G>T	ENST00000366481.3	+	6	946	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCGCCACGGCGCACCCGAG	0.547																																					p.A300S		.											.	TRIM58-96	0			c.G898T						.						62	60	61					1																	248039228		2203	4300	6503	SO:0001583	missense	25893	exon6			GCCACGGCGCACC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.898G>T	1.37:g.248039228G>T	ENSP00000355437:p.Ala300Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	127	12	NM_015431	0	0	0	0	0	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402224	0.62288	.	.	ENSG00000162722	ENST00000366481	T	0.38887	1.11	3.95	3.95	0.45737	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.69115	0.3075	M	0.88031	2.925	0.80722	D	1	P	0.51147	0.942	D	0.83275	0.996	T	0.75416	-0.3325	10	0.72032	D	0.01	.	14.3286	0.66537	0.0:0.0:1.0:0.0	.	300	Q8NG06	TRI58_HUMAN	S	300	ENSP00000355437:A300S	ENSP00000355437:A300S	A	+	1	0	TRIM58	246105851	1.000000	0.71417	0.224000	0.23877	0.122000	0.20287	7.084000	0.76866	2.512000	0.84698	0.650000	0.86243	GCG	.		0.547	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039228	G	T	248039228	3	4	31	1	0	0	0	0	1	0	0	0	16579	1203	42	3	920	3	TRIM58	1	248039228	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	34785	248039228	1211393	301	5853											
OR2L8	391190	broad.mit.edu;bcgsc.ca	37	chr1	248112694	248112694	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcaatcatttcttctgtGatgtcccagcaatggtgact	7	11	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248112694G>T	ENST00000357191.3	+	1	535	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTCTTCTGTGATGTCCCAGC	0.483																																					p.D179Y		.											.	OR2L8-70	0			c.G535T						.						165	101	123					1																	248112694		2203	4300	6503	SO:0001583	missense	391190	exon1			TTCTGTGATGTCC	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.535G>T	1.37:g.248112694G>T	ENSP00000349719:p.Asp179Tyr	Somatic	112	2		WXS	Illumina GAIIx	Phase_I	209	48	NM_001001963	0	0	0	0	0	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.142075	0.57044	.	.	ENSG00000196936	ENST00000357191	T	0.00207	8.55	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004227	T	0.00724	0.0024	H	0.96301	3.8	0.44711	D	0.997704	D	0.57257	0.979	D	0.64687	0.928	T	0.57213	-0.7850	10	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	179	Q8NGY9	OR2L8_HUMAN	Y	179	ENSP00000349719:D179Y	ENSP00000349719:D179Y	D	+	1	0	OR2L8	246179317	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	4.260000	0.58835	1.005000	0.39183	0.479000	0.44913	GAT	.		0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			T	248112694	G	T	248112694	3	4	31	1	0	0	0	0	1	0	0	0	11048	1290	45	3	537	3	OR2L8	1	248112694	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	73466	248112694	1137927	302	5854											
OR2L8	391190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	248113085	248113085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgagtcagagaatctgctCtgtgaaaatgtagaaacact	10	6	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248113085C>A	ENST00000357191.3	+	1	926	c.926C>A	c.(925-927)tCt>tAt	p.S309Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAATCTGCTCTGTGAAAATG	0.448																																					p.S309Y		.											.	OR2L8-70	0			c.C926A						.						33	31	31					1																	248113085		2203	4300	6503	SO:0001583	missense	391190	exon1			TCTGCTCTGTGAA	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.926C>A	1.37:g.248113085C>A	ENSP00000349719:p.Ser309Tyr	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	41	24	NM_001001963	0	0	0	0	0	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	4.103	0.017130	0.07959	.	.	ENSG00000196936	ENST00000357191	T	0.08102	3.13	1.8	0.832	0.18867	.	.	.	.	.	T	0.09202	0.0227	L	0.29908	0.895	0.09310	N	1	P	0.34587	0.458	P	0.45474	0.482	T	0.40590	-0.9555	9	0.39692	T	0.17	.	5.5798	0.17243	0.0:0.8146:0.0:0.1854	.	309	Q8NGY9	OR2L8_HUMAN	Y	309	ENSP00000349719:S309Y	ENSP00000349719:S309Y	S	+	2	0	OR2L8	246179708	0.000000	0.05858	0.207000	0.23584	0.118000	0.20060	-2.658000	0.00852	0.108000	0.17862	0.485000	0.47835	TCT	.		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248113085	C	A	248113085	3	1	31	1	0	0	0	0	1	0	0	0	11048	913	32	3	928	3	OR2L8	1	248113085	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	391	248113085	1137536	303	5855											
OR2L2	26246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248201688	248201688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttcctaatggctctaattgGaaatctatccatgattcttc	5	9	3	1	rs553489526	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248201688G>T	ENST00000366479.2	+	1	215	c.119G>T	c.(118-120)gGa>gTa	p.G40V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GCTCTAATTGGAAATCTATCC	0.383																																					p.G40V		.											.	OR2L2-70	0			c.G119T						.						231	220	224					1																	248201688		2203	4300	6503	SO:0001583	missense	26246	exon1			TAATTGGAAATCT	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.119G>T	1.37:g.248201688G>T	ENSP00000355435:p.Gly40Val	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	259	34	NM_001004686	0	0	0	0	0	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	14.37	2.515544	0.44763	.	.	ENSG00000203663	ENST00000366479	T	0.56103	0.48	2.09	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66733	0.2819	H	0.94503	3.545	0.50171	D	0.99985	P	0.44816	0.844	P	0.45856	0.495	T	0.75986	-0.3124	9	0.87932	D	0	.	10.9157	0.47135	0.0:0.0:1.0:0.0	.	40	Q8NH16	OR2L2_HUMAN	V	40	ENSP00000355435:G40V	ENSP00000355435:G40V	G	+	2	0	OR2L2	246268311	0.024000	0.19004	0.234000	0.24042	0.331000	0.28603	0.301000	0.19174	1.016000	0.39470	0.194000	0.17425	GGA	.		0.383	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		T	248201688	G	T	248201688	3	4	31	1	0	0	0	0	1	0	0	0	11046	1174	41	3	121	3	OR2L2	1	248201688	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	88603	248201688	1048933	304	5856											
OR2L3	391192	broad.mit.edu	37	chr1	248224518	248224518	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcaatcatttcttctgtGatgtcccagcaatggtgact	7	11	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248224518G>T	ENST00000359959.3	+	1	535	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTCTTCTGTGATGTCCCAGC	0.478																																					p.D179Y		.											.	OR2L3-68	0			c.G535T						.						110	141	131					1																	248224518		2203	4300	6503	SO:0001583	missense	391192	exon1			TTCTGTGATGTCC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.535G>T	1.37:g.248224518G>T	ENSP00000353044:p.Asp179Tyr	Somatic	264	2		WXS	Illumina GAIIx	Phase_I	531	37	NM_001004687	0	0	0	0	0	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449910	0.43531	.	.	ENSG00000198128	ENST00000359959	T	0.00207	8.55	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004227	T	0.00608	0.0020	M	0.93763	3.455	0.36930	D	0.891858	D	0.57257	0.979	D	0.64687	0.928	T	0.59958	-0.7356	10	0.87932	D	0	.	8.2158	0.31509	0.133:0.0:0.867:0.0	.	179	Q8NG85	OR2L3_HUMAN	Y	179	ENSP00000353044:D179Y	ENSP00000353044:D179Y	D	+	1	0	OR2L3	246291141	1.000000	0.71417	0.074000	0.20217	0.026000	0.11368	6.885000	0.75606	0.175000	0.19841	0.462000	0.41574	GAT	.		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		T	248224518	G	T	248224518	3	4	31	1	0	0	0	0	1	0	0	0	11047	1290	45	3	537	3	OR2L3	1	248224518	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	22830	248224518	1026103	305	5857											
OR2L13	284521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248263017	248263017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttctgaaggcttactcCtgacctccatggcctacgac	9	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263017C>A	ENST00000358120.2	+	2	485	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	OR2L13_ENST00000366478.2_Missense_Mutation_p.L114M			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	114						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)			AGGCTTACTCCTGACCTCCAT	0.507																																					p.L114M		.											.	OR2L13-70	0			c.C340A						.						238	218	225					1																	248263017		2203	4300	6503	SO:0001583	missense	284521	exon3			TTACTCCTGACCT	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.340C>A	1.37:g.248263017C>A	ENSP00000350836:p.Leu114Met	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	174	29	NM_175911	0	0	0	0	0	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634689	0.29068	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.05081	3.5;3.5	4.07	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35466	N	0.003193	T	0.27313	0.0670	M	0.91612	3.225	0.19300	N	0.999971	D	0.76494	0.999	D	0.87578	0.998	T	0.06807	-1.0806	10	0.87932	D	0	.	8.3867	0.32505	0.0:0.7854:0.0:0.2146	.	114	Q8N349	OR2LD_HUMAN	M	114	ENSP00000355434:L114M;ENSP00000350836:L114M	ENSP00000350836:L114M	L	+	1	2	OR2L13	246329640	0.003000	0.15002	0.002000	0.10522	0.179000	0.23085	-0.027000	0.12371	0.274000	0.22072	0.650000	0.86243	CTG	.		0.507	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		A	248263017	C	A	248263017	3	1	31	1	0	0	0	0	1	0	0	0	11045	680	24	3	342	3	OR2L13	1	248263017	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	38499	248263017	987604	306	5858											
OR2L13	284521	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	248263390	248263390	+	Frame_Shift_Del	DEL	C	C	-													ggggagaaaaaaggccttcaCcaccatttcaacacatttaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263390delC	ENST00000358120.2	+	2	858	c.713delC	c.(712-714)accfs	p.T239fs	OR2L13_ENST00000366478.2_Frame_Shift_Del_p.T239fs			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	239						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)			AAGGCCTTCACCACCATTTCA	0.448																																					p.T238fs		.											.	OR2L13-70	0			c.713delC						.						143	138	140					1																	248263390		2203	4300	6503	SO:0001589	frameshift_variant	284521	exon3			CCTTCACCACCAT	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.713delC	1.37:g.248263390delC	ENSP00000350836:p.Thr239fs	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	154	83	NM_175911	0	0	0	0	0	Q5VUR5	Frame_Shift_Del	DEL	ENST00000358120.2	37	CCDS1637.1																																																																																			.		0.448	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		-	248263390	C	-	248263390	7	5	31	1	0	1	0	1	0	0	0	0	11045	507	18	0	715	0	OR2L13	1	248263390	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	373	248263390	987231	307	5859	47	2									
OR2L13	284521	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248263394	248263394	+	Silent	SNP	C	C	G													agaaaaaaggccttcaccacCatttcaacacatttaactgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263394C>G	ENST00000358120.2	+	2	862	c.717C>G	c.(715-717)acC>acG	p.T239T	OR2L13_ENST00000366478.2_Silent_p.T239T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	239						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)			CCTTCACCACCATTTCAACAC	0.453																																					p.T239T		.											.	OR2L13-70	0			c.C717G						.						144	139	141					1																	248263394		2203	4300	6503	SO:0001819	synonymous_variant	284521	exon3			CACCACCATTTCA	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.717C>G	1.37:g.248263394C>G		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	157	38	NM_175911	0	0	0	0	0	Q5VUR5	Silent	SNP	ENST00000358120.2	37	CCDS1637.1																																																																																			.		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		G	248263394	C	G	248263394	2	3	31	1	0	0	0	0	0	0	0	1	11045	581	21	3		3	OR2L13	1	248263394	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4	248263394	987227	308	5860	47	2									
OR2M5	127059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248308676	248308676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacctcatgctcatctgctCtaccgtacccaagatggcct	8	15	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248308676C>A	ENST00000366476.1	+	1	227	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATCTGCTCTACCGTACCC	0.498																																					p.S76Y		.											.	OR2M5-71	0			c.C227A						.						363	341	348					1																	248308676		2203	4300	6503	SO:0001583	missense	127059	exon1			TCTGCTCTACCGT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.227C>A	1.37:g.248308676C>A	ENSP00000355432:p.Ser76Tyr	Somatic	285	0		WXS	Illumina GAIIx	Phase_I	463	57	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	2.862	-0.235877	0.05944	.	.	ENSG00000162727	ENST00000366476	T	0.00408	7.54	3.28	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32987	U	0.005412	T	0.00412	0.0013	M	0.76838	2.35	0.09310	N	1	B	0.14438	0.01	B	0.23150	0.044	T	0.47032	-0.9148	10	0.87932	D	0	.	4.0213	0.09667	0.0:0.4953:0.1837:0.3209	.	76	A3KFT3	OR2M5_HUMAN	Y	76	ENSP00000355432:S76Y	ENSP00000355432:S76Y	S	+	2	0	OR2M5	246375299	0.000000	0.05858	0.006000	0.13384	0.206000	0.24218	-0.669000	0.05262	0.471000	0.27319	0.492000	0.49549	TCT	.		0.498	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248308676	C	A	248308676	3	1	31	1	0	0	0	0	1	0	0	0	11052	913	32	3	229	3	OR2M5	1	248308676	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	45282	248308676	941945	309	5861											
OR2M2	391194	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248343672	248343672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctatattgctatttgccacCctctaagatataccaatctc	4	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248343672C>G	ENST00000359682.2	+	1	385	c.385C>G	c.(385-387)Cct>Gct	p.P129A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	129						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)			TATTTGCCACCCTCTAAGATA	0.403																																					p.P129A		.											.	OR2M2-72	0			c.C385G						.						216	225	222					1																	248343672		2203	4300	6503	SO:0001583	missense	391194	exon1			TGCCACCCTCTAA	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.385C>G	1.37:g.248343672C>G	ENSP00000352710:p.Pro129Ala	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	233	46	NM_001004688	0	0	0	0	0	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.710169	0.48517	.	.	ENSG00000198601	ENST00000359682	T	0.01838	4.61	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30820	U	0.008802	T	0.12689	0.0308	H	0.98664	4.295	0.31437	N	0.672446	D	0.54964	0.969	P	0.48770	0.589	T	0.44997	-0.9291	10	0.87932	D	0	.	11.6433	0.51246	0.0:1.0:0.0:0.0	.	129	Q96R28	OR2M2_HUMAN	A	129	ENSP00000352710:P129A	ENSP00000352710:P129A	P	+	1	0	OR2M2	246410295	0.995000	0.38212	0.004000	0.12327	0.008000	0.06430	5.555000	0.67301	1.056000	0.40484	0.454000	0.30748	CCT	.		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		G	248343672	C	G	248343672	3	3	31	1	0	0	0	0	1	0	0	0	11049	623	22	3	387	3	OR2M2	1	248343672	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	34996	248343672	906949	310	5862											
OR2M3	127062	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248366445	248366445	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcacagccccacccacaccTtcctcttctttctggtcctg	4	19	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248366445T>A	ENST00000456743.1	+	1	114	c.76T>A	c.(76-78)Ttc>Atc	p.F26I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCCACACCTTCCTCTTCTT	0.507																																					p.F26I		.											.	OR2M3-70	0			c.T76A						.						203	209	207					1																	248366445		2203	4298	6501	SO:0001583	missense	127062	exon1			CACACCTTCCTCT		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.76T>A	1.37:g.248366445T>A	ENSP00000389625:p.Phe26Ile	Somatic	362	1		WXS	Illumina GAIIx	Phase_I	615	160	NM_001004689	0	0	0	0	0	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209310	0.58343	.	.	ENSG00000228198	ENST00000456743	T	0.02709	4.19	2.61	-0.227	0.13102	.	0.000000	0.33534	U	0.004810	T	0.02610	0.0079	L	0.35414	1.06	0.09310	N	1	P	0.35872	0.525	B	0.40066	0.318	T	0.40924	-0.9537	10	0.51188	T	0.08	.	4.4979	0.11848	0.0:0.2268:0.1704:0.6029	.	26	Q8NG83	OR2M3_HUMAN	I	26	ENSP00000389625:F26I	ENSP00000389625:F26I	F	+	1	0	OR2M3	246433068	0.000000	0.05858	0.005000	0.12908	0.679000	0.39708	0.047000	0.14056	0.250000	0.21479	0.327000	0.21459	TTC	.		0.507	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		A	248366445	T	A	248366445	3	1	31	1	0	0	0	0	1	0	0	0	11050	1609	56	5	78	5	OR2M3	1	248366445	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	22773	248366445	884176	311	5863											
OR2M3	127062	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248366542	248366542	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacacccagctccacacccCcatgtacctcctcctcagcc	5	22	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248366542C>G	ENST00000456743.1	+	1	211	c.173C>G	c.(172-174)cCc>cGc	p.P58R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCCACACCCCCATGTACCTC	0.547																																					p.P58R		.											.	OR2M3-70	0			c.C173G						.						348	323	332					1																	248366542		2203	4300	6503	SO:0001583	missense	127062	exon1			ACACCCCCATGTA		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.173C>G	1.37:g.248366542C>G	ENSP00000389625:p.Pro58Arg	Somatic	296	1		WXS	Illumina GAIIx	Phase_I	494	146	NM_001004689	0	0	0	0	0	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283233	0.40394	.	.	ENSG00000228198	ENST00000456743	T	0.25749	1.78	2.44	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.267717	0.19771	U	0.106427	T	0.67316	0.2880	H	0.99444	4.57	0.34002	D	0.650464	D	0.76494	0.999	D	0.71184	0.972	D	0.84745	0.0753	10	0.87932	D	0	.	12.8724	0.57972	0.0:1.0:0.0:0.0	.	58	Q8NG83	OR2M3_HUMAN	R	58	ENSP00000389625:P58R	ENSP00000389625:P58R	P	+	2	0	OR2M3	246433165	0.733000	0.28132	0.924000	0.36721	0.209000	0.24338	4.106000	0.57804	1.361000	0.45981	0.405000	0.27470	CCC	.		0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		G	248366542	C	G	248366542	3	3	31	1	0	0	0	0	1	0	0	0	11050	623	22	3	175	3	OR2M3	1	248366542	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	97	248366542	884079	312	5864											
OR2M4	26245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248402254	248402254	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtgggaaaaccagaccttCaactccatcttcatcctgct	7	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248402254C>T	ENST00000306687.1	+	1	24	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			ACCAGACCTTCAACTCCATCT	0.423																																					p.F8F		.											.	OR2M4-113	0			c.C24T						.						108	105	106					1																	248402254		2203	4300	6503	SO:0001819	synonymous_variant	26245	exon1			GACCTTCAACTCC	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.24C>T	1.37:g.248402254C>T		Somatic	167	0		WXS	Illumina GAIIx	Phase_I	305	153	NM_017504	0	0	0	0	0	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																			.		0.423	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		T	248402254	C	T	248402254	2	4	31	1	0	0	0	0	0	0	0	1	11051	825	29	3		3	OR2M4	1	248402254	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35712	248402254	848367	313	5865											
OR2T12	127064	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	248458292	248458292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taacacacagcagatgtacaTggcgttttcgaagactgaag	10	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248458292T>A	ENST00000317996.1	-	1	588	c.589A>T	c.(589-591)Atg>Ttg	p.M197L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	197						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)			CAGATGTACATGGCGTTTTCG	0.532																																					p.M197L		.											.	OR2T12-71	0			c.A589T						.						70	54	60					1																	248458292		2201	4295	6496	SO:0001583	missense	127064	exon1			TGTACATGGCGTT	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.589A>T	1.37:g.248458292T>A	ENSP00000324583:p.Met197Leu	Somatic	807	0		WXS	Illumina GAIIx	Phase_I	1588	190	NM_001004692	0	0	0	0	0		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	t	5.496	0.276520	0.10403	.	.	ENSG00000177201	ENST00000317996	T	0.00024	8.98	1.55	0.0327	0.14176	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00073	0.0002	N	0.02736	-0.51	0.09310	N	1	B	0.26120	0.142	B	0.38683	0.279	T	0.05733	-1.0867	10	0.25751	T	0.34	.	4.9569	0.14046	0.0:0.3473:0.0:0.6527	.	197	Q8NG77	O2T12_HUMAN	L	197	ENSP00000324583:M197L	ENSP00000324583:M197L	M	-	1	0	OR2T12	246524915	0.000000	0.05858	0.009000	0.14445	0.209000	0.24338	-2.790000	0.00767	-0.313000	0.08728	-1.522000	0.00932	ATG	.		0.532	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		A	248458292	T	A	248458292	3	1	31	1	0	0	0	0	1	0	0	0	11058	1464	51	5	376	5	OR2T12	1	248458292	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	56038	248458292	792329	314	5866											
OR14C36	127066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248512583	248512583	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcccttctgtcggtcCaacgttattcatcaattctt	6	13	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248512583C>A	ENST00000317861.1	+	1	507	c.507C>A	c.(505-507)tcC>tcA	p.S169S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTGTCGGTCCAACGTTATTC	0.512																																					p.S169S		.											.	OR14C36-48	0			c.C507A						.						149	129	136					1																	248512583		2203	4300	6503	SO:0001819	synonymous_variant	127066	exon1			TCGGTCCAACGTT	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.507C>A	1.37:g.248512583C>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	119	57	NM_001001918	0	0	0	0	0	Q6IEZ6	Silent	SNP	ENST00000317861.1	37	CCDS31112.1																																																																																			.		0.512	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		A	248512583	C	A	248512583	2	1	31	1	0	0	0	0	0	0	0	1	10985	581	21	3		3	OR14C36	1	248512583	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	54291	248512583	738038	315	5867											
OR2T4	127074	ucsc.edu;bcgsc.ca	37	chr1	248525752	248525752	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggggctgccatctacacCtacatgctccccagctccta	7	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248525752C>A	ENST00000366475.1	+	1	870	c.870C>A	c.(868-870)acC>acA	p.T290T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATCTACACCTACATGCTCC	0.532																																					p.T290T		.											.	OR2T4-68	0			c.C870A						.						160	155	157					1																	248525752		2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			CTACACCTACATG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.870C>A	1.37:g.248525752C>A		Somatic	914	3		WXS	Illumina GAIIx	Phase_I	1467	580	NM_001004696	0	0	0	0	0	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			.		0.532	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525752	C	A	248525752	2	1	31	1	0	0	0	0	0	0	0	1	11066	668	24	3		3	OR2T4	1	248525752	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13169	248525752	724869	316	5868											
OR2T6	254879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248551108	248551108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcctcagccacctcTccgtcattgacacattatac	3	17	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248551108T>A	ENST00000355728.2	+	1	199	c.199T>A	c.(199-201)Tcc>Acc	p.S67T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCACCTCTCCGTCATTGA	0.498																																					p.S67T		.											.	OR2T6-71	0			c.T199A						.						219	169	186					1																	248551108		2203	4300	6503	SO:0001583	missense	254879	exon1			CACCTCTCCGTCA	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.199T>A	1.37:g.248551108T>A	ENSP00000347965:p.Ser67Thr	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	345	186	NM_001005471	0	0	0	0	0	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.606067	0.46527	.	.	ENSG00000198104	ENST00000355728	T	0.11930	2.73	4.38	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000460	T	0.53222	0.1783	H	0.99435	4.565	0.27980	N	0.936071	D	0.89917	1.0	D	0.74348	0.983	T	0.61554	-0.7039	10	0.87932	D	0	.	10.3674	0.44033	0.0:0.0:0.2357:0.7643	.	67	Q8NHC8	OR2T6_HUMAN	T	67	ENSP00000347965:S67T	ENSP00000347965:S67T	S	+	1	0	OR2T6	246617731	0.000000	0.05858	0.979000	0.43373	0.515000	0.34225	-0.377000	0.07456	1.962000	0.57031	0.523000	0.50628	TCC	.		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		A	248551108	T	A	248551108	3	1	31	1	0	0	0	0	1	0	0	0	11068	1551	54	5	201	5	OR2T6	1	248551108	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	25356	248551108	699513	317	5869											
OR2T6	254879	ucsc.edu;bcgsc.ca	37	chr1	248551631	248551631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggcctttgccacctGctcttcacacatgatggtgg	11	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248551631G>T	ENST00000355728.2	+	1	722	c.722G>T	c.(721-723)tGc>tTc	p.C241F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGCCACCTGCTCTTCACAC	0.502																																					p.C241F		.											.	OR2T6-71	0			c.G722T						.						265	223	237					1																	248551631		2203	4300	6503	SO:0001583	missense	254879	exon1			CCACCTGCTCTTC	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.722G>T	1.37:g.248551631G>T	ENSP00000347965:p.Cys241Phe	Somatic	207	2		WXS	Illumina GAIIx	Phase_I	324	81	NM_001005471	0	0	0	0	0	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390182	0.42410	.	.	ENSG00000198104	ENST00000355728	T	0.00368	7.75	4.02	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.01627	0.0052	H	0.96604	3.85	0.45216	D	0.998222	D	0.89917	1.0	D	0.75484	0.986	T	0.33954	-0.9848	10	0.87932	D	0	.	13.4624	0.61235	0.0:0.159:0.841:0.0	.	241	Q8NHC8	OR2T6_HUMAN	F	241	ENSP00000347965:C241F	ENSP00000347965:C241F	C	+	2	0	OR2T6	246618254	1.000000	0.71417	0.780000	0.31762	0.565000	0.35776	8.330000	0.90019	0.999000	0.39023	0.643000	0.83706	TGC	.		0.502	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		T	248551631	G	T	248551631	3	4	31	1	0	0	0	0	1	0	0	0	11068	1319	46	3	724	3	OR2T6	1	248551631	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	523	248551631	698990	318	5870											
OR2T1	26696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248569879	248569879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtctgttggatgattaTagcaggttcctggtttgggg	16	6	1	1	rs138350213	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248569879T>C	ENST00000366474.1	+	1	584	c.584T>C	c.(583-585)aTa>aCa	p.I195T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGATTATAGCAGGTTCC	0.537													.|||	13	0.00259585	0	0.0187	5008	,	,		19917	0		0	False		,,,				2504	0				p.I195T		.											.	OR2T1-69	0			c.T584C						.	T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	96	94	95		584	1.2	0	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2T1	NM_030904.1	89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	possibly-damaging	195/370	248569879	2,13004	2203	4300	6503	SO:0001583	missense	26696	exon1			TGATTATAGCAGG	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.584T>C	1.37:g.248569879T>C	ENSP00000355430:p.Ile195Thr	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	248	107	NM_030904	0	0	0	0	0	Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	CCDS31115.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	t	11.54	1.668079	0.29604	2.27E-4	1.16E-4	ENSG00000175143	ENST00000366474	T	0.43688	0.94	4.84	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000884	T	0.25005	0.0607	N	0.25426	0.745	0.09310	N	1	P	0.42161	0.772	P	0.49192	0.602	T	0.14476	-1.0471	10	0.18276	T	0.48	.	7.6734	0.28471	0.0:0.2618:0.0:0.7382	.	195	O43869	OR2T1_HUMAN	T	195	ENSP00000355430:I195T	ENSP00000355430:I195T	I	+	2	0	OR2T1	246636502	0.000000	0.05858	0.019000	0.16419	0.992000	0.81027	0.152000	0.16302	0.350000	0.24002	0.528000	0.53228	ATA	T|0.999;C|0.001		0.537	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			C	248569879	T	C	248569879	3	2	31	1	0	0	0	0	1	0	0	0	11055	1406	49	4	586	4	OR2T1	1	248569879	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	18248	248569879	680742	319	5871											
OR2T2	401992	broad.mit.edu;bcgsc.ca	37	chr1	248616364	248616364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggacctcctgtccaAggacaagaccatttccttcc	7	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248616364A>T	ENST00000342927.3	+	1	288	c.266A>T	c.(265-267)aAg>aTg	p.K89M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGTCCAAGGACAAGACC	0.522																																					p.K89M		.											.	OR2T2-23	0			c.A266T						.						179	213	201					1																	248616364		2203	4300	6503	SO:0001583	missense	401992	exon1			TGTCCAAGGACAA	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.266A>T	1.37:g.248616364A>T	ENSP00000343062:p.Lys89Met	Somatic	1715	2		WXS	Illumina GAIIx	Phase_I	2474	164	NM_001004136	0	0	0	0	0	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	a	13.57	2.276757	0.40294	.	.	ENSG00000196240	ENST00000342927	T	0.03181	4.02	3.34	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.399810	0.21275	N	0.077244	T	0.04363	0.0120	L	0.48935	1.535	0.09310	N	1	P	0.43287	0.802	B	0.41764	0.366	T	0.32587	-0.9901	10	0.87932	D	0	.	6.0905	0.19991	0.7717:0.0:0.2283:0.0	.	89	Q6IF00	OR2T2_HUMAN	M	89	ENSP00000343062:K89M	ENSP00000343062:K89M	K	+	2	0	OR2T2	246682987	0.000000	0.05858	0.191000	0.23289	0.901000	0.52897	0.026000	0.13599	1.373000	0.46208	0.248000	0.18094	AAG	.		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616364	A	T	248616364	3	4	31	1	0	0	0	0	1	0	0	0	11059	72	3	5	268	5	OR2T2	1	248616364	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	46485	248616364	634257	320	5872											
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248756309	248756309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtagttgtaaatagcaGctccatagaagaggctgacc	11	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756309G>A	ENST00000330500.2	-	1	791	c.761C>T	c.(760-762)gCt>gTt	p.A254V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAAATAGCAGCTCCATAGAA	0.458																																					p.A254V		.											.	OR2T10-69	0			c.C761T						.						67	69	68					1																	248756309		2050	4236	6286	SO:0001583	missense	127069	exon1			ATAGCAGCTCCAT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.761C>T	1.37:g.248756309G>A	ENSP00000329210:p.Ala254Val	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	256	39	NM_001004693	0	0	0	0	0	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407260	0.25378	.	.	ENSG00000184022	ENST00000330500	T	0.00179	8.61	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.81802	2.56	0.09310	N	1	P	0.50369	0.934	P	0.59643	0.861	T	0.42207	-0.9465	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	254	Q8NGZ9	O2T10_HUMAN	V	254	ENSP00000329210:A254V	ENSP00000329210:A254V	A	-	2	0	OR2T10	246822932	0.010000	0.17322	0.002000	0.10522	0.016000	0.09150	1.677000	0.37576	1.123000	0.41961	0.447000	0.29281	GCT	.		0.458	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		A	248756309	G	A	248756309	3	1	31	1	0	0	0	0	1	0	0	0	11056	971	34	3	180	3	OR2T10	1	248756309	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	139945	248756309	494312	321	5873			2	30	96426598	4	4	570	G		1.525118e-05
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248756494	248756494	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaatcttgtaaagtgaGgtgtctgagcaagagagctt	12	4	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756494G>T	ENST00000330500.2	-	1	606	c.576C>A	c.(574-576)acC>acA	p.T192T	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAAAGTGAGGTGTCTGAGC	0.468																																					p.T192T		.											.	OR2T10-69	0			c.C576A						.						78	84	82					1																	248756494		2042	4241	6283	SO:0001819	synonymous_variant	127069	exon1			AAGTGAGGTGTCT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.576C>A	1.37:g.248756494G>T		Somatic	343	1		WXS	Illumina GAIIx	Phase_I	392	246	NM_001004693	0	0	0	0	0	B2RNK7	Silent	SNP	ENST00000330500.2	37	CCDS31121.1																																																																																			.		0.468	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		T	248756494	G	T	248756494	2	4	31	1	0	0	0	0	0	0	0	1	11056	987	35	3		3	OR2T10	1	248756494	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	185	248756494	494127	322	5874			2	30	96426598	4	4	570	G		1.525118e-05
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248756527	248756527	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagcttcaaaacagcaggGacctcacagaagaagtgctg	12	9	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756527G>T	ENST00000330500.2	-	1	573	c.543C>A	c.(541-543)gtC>gtA	p.V181V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAACAGCAGGGACCTCACAGA	0.493																																					p.V181V		.											.	OR2T10-69	0			c.C543A						.						84	92	90					1																	248756527		2042	4237	6279	SO:0001819	synonymous_variant	127069	exon1			AGCAGGGACCTCA		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.543C>A	1.37:g.248756527G>T		Somatic	375	0		WXS	Illumina GAIIx	Phase_I	441	74	NM_001004693	0	0	0	0	0	B2RNK7	Silent	SNP	ENST00000330500.2	37	CCDS31121.1																																																																																			.		0.493	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		T	248756527	G	T	248756527	2	4	31	1	0	0	0	0	0	0	0	1	11056	1161	41	3		3	OR2T10	1	248756527	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	33	248756527	494094	323	5875			2	30	96426598	4	4	570	G		1.525118e-05
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248756878	248756878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtctatgagtgagagctgGtttataaagaagtacatggg	13	3	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756878G>T	ENST00000330500.2	-	1	222	c.192C>A	c.(190-192)aaC>aaA	p.N64K	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N64K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGAGCTGGTTTATAAAGA	0.423																																					p.N64K		.											.	OR2T10-69	1	Substitution - Missense(1)	large_intestine(1)	c.C192A						.						79	89	86					1																	248756878		2049	4236	6285	SO:0001583	missense	127069	exon1			GAGCTGGTTTATA		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.192C>A	1.37:g.248756878G>T	ENSP00000329210:p.Asn64Lys	Somatic	266	1		WXS	Illumina GAIIx	Phase_I	281	153	NM_001004693	0	0	0	0	0	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.329	0.825977	0.16749	.	.	ENSG00000184022	ENST00000330500	T	0.00388	7.59	2.34	-0.0309	0.13912	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37079	-0.9721	9	0.87932	D	0	.	2.2657	0.04078	0.3362:0.0:0.279:0.3848	.	64	Q8NGZ9	O2T10_HUMAN	K	64	ENSP00000329210:N64K	ENSP00000329210:N64K	N	-	3	2	OR2T10	246823501	0.000000	0.05858	0.267000	0.24556	0.909000	0.53808	-1.502000	0.02279	0.179000	0.19938	0.441000	0.28932	AAC	.		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		T	248756878	G	T	248756878	3	4	31	1	0	0	0	0	1	0	0	0	11056	1252	44	3	749	3	OR2T10	1	248756878	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	351	248756878	493743	324	5876			2	30	96426598	4	4	570	G		1.525118e-05
OR2T11	127077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248790268	248790268	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagaaagtacatgggGgtgtggaggcgagagtccac	17	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248790268G>T	ENST00000330803.2	-	1	223	c.162C>A	c.(160-162)acC>acA	p.T54T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATGGGGGTGTGGAGGC	0.478																																					p.T54T		.											.	OR2T11-69	0			c.C162A						.						64	72	70					1																	248790268		2051	4235	6286	SO:0001819	synonymous_variant	127077	exon1			CATGGGGGTGTGG	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.162C>A	1.37:g.248790268G>T		Somatic	158	1		WXS	Illumina GAIIx	Phase_I	240	115	NM_001001964	0	0	0	0	0	Q6IEY6	Silent	SNP	ENST00000330803.2	37	CCDS31122.1																																																																																			.		0.478	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		T	248790268	G	T	248790268	2	4	31	1	0	0	0	0	0	0	0	1	11057	1219	43	3		3	OR2T11	1	248790268	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	33390	248790268	460353	325	5877											
OR2T11	127077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	248790331	248790331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgcagtcacggccccCaagaaaacagcaaggatcac	8	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248790331C>A	ENST00000330803.2	-	1	160	c.99G>T	c.(97-99)ttG>ttT	p.L33F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACGGCCCCCAAGAAAACAG	0.507																																					p.L33F		.											.	OR2T11-69	0			c.G99T						.						60	70	67					1																	248790331		2049	4237	6286	SO:0001583	missense	127077	exon1			GGCCCCCAAGAAA	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.99G>T	1.37:g.248790331C>A	ENSP00000328934:p.Leu33Phe	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	196	27	NM_001001964	0	0	0	0	0	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	4.525	0.097423	0.08681	.	.	ENSG00000183130	ENST00000330803	T	0.17213	2.29	4.62	-1.73	0.08081	.	0.639093	0.12831	N	0.435619	T	0.13670	0.0331	M	0.66378	2.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33828	-0.9853	10	0.25106	T	0.35	.	2.5203	0.04678	0.1172:0.385:0.1151:0.3826	.	33	Q8NH01	O2T11_HUMAN	F	33	ENSP00000328934:L33F	ENSP00000328934:L33F	L	-	3	2	OR2T11	246856954	0.000000	0.05858	0.009000	0.14445	0.000000	0.00434	-3.118000	0.00596	-0.605000	0.05753	-1.728000	0.00702	TTG	.		0.507	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		A	248790331	C	A	248790331	3	1	31	1	0	0	0	0	1	0	0	0	11057	593	21	3	855	3	OR2T11	1	248790331	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	63	248790331	460290	326	5878											
SNTG2	54221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	1094065	1094065	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgagcacaacgtccctgtCgtcatatcaaaaatattcga	6	11	3	1	rs369324271		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1094065C>G	ENST00000308624.5	+	4	423	c.294C>G	c.(292-294)gtC>gtG	p.V98V	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	98	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACGTCCCTGTCGTCATATCAA	0.383																																					p.V98V		.											.	SNTG2-136	0			c.C294G						.						117	111	113					2																	1094065		1884	4106	5990	SO:0001819	synonymous_variant	54221	exon4			CCCTGTCGTCATA	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.294C>G	2.37:g.1094065C>G		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	120	44	NM_018968	0	0	0	0	0	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																			.		0.383	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		G	1094065	C	G	1094065	2	3	31	1	0	0	0	0	0	0	0	1	14920	871	31	2		2	SNTG2	2	1094065	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		1094065	242105308	327	5879											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	31	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	387166	1481231	241718142	328	5880											
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	1926733	1926734	+	Missense_Mutation	DNP	GG	GG	TT													gagcacaacaccgtgtccttGggctaatagtttaagggagt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1926733_1926734GG>TT	ENST00000399161.2	-	10	1554_1555	c.807_808CC>AA	c.(805-810)gcCCaa>gcAAaa	p.Q270K	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q270K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	270					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)		CCGTGTCCTTGGGCTAATAGTT	0.411																																					p.Q270K|p.A269A		.											.	MYT1L-95	0			c.C808A|c.C807A						.																																			SO:0001583	missense	23040	exon10			GTCCTTGGGCTAA|TCCTTGGGCTAAT	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.807_808delinsTT	2.37:g.1926733_1926734delinsTT	ENSP00000382114:p.Gln270Lys	Somatic	280	1|2		WXS	Illumina GAIIx	Phase_I	237|239	92|91	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation|Silent	SNP	ENST00000399161.2	37																																																																																				.		0.411	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		TT	1926734	GG	TT	1926733	3	4	31	1	0	0	0	0	1	0	0	0	10145	1357	47	3	2810	3	MYT1L	2	1926733	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	445502	1926733	241272640	329	5881											
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	3197900	3197900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaagtcaaggtcccgcaCcagctgtccgtgggcattct	10	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:3197900C>T	ENST00000382125.4	-	7	883	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	TSSC1_ENST00000398659.4_Missense_Mutation_p.V258M|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	231										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGGTCCCGCACCAGCTGTCCG	0.502																																					p.V231M	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.G691A						.						92	96	95					2																	3197900		2203	4300	6503	SO:0001583	missense	7260	exon7			CCCGCACCAGCTG	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.691G>A	2.37:g.3197900C>T	ENSP00000371559:p.Val231Met	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	82	27	NM_003310	0	0	0	0	0	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730076	0.89390	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	T;T;T	0.73897	-0.79;-0.79;-0.79	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111999	0.64402	D	0.000012	T	0.77505	0.4140	M	0.83603	2.65	0.80722	D	1	B	0.30511	0.282	B	0.28638	0.092	T	0.77930	-0.2403	10	0.48119	T	0.1	-20.2698	17.9257	0.88982	0.0:1.0:0.0:0.0	.	231	Q53HC9	TSSC1_HUMAN	M	231;258;80	ENSP00000371559:V231M;ENSP00000381652:V258M;ENSP00000393350:V80M	ENSP00000371559:V231M	V	-	1	0	TSSC1	3176907	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.758000	0.68776	2.458000	0.83093	0.655000	0.94253	GTG	.		0.502	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		T	3197900	C	T	3197900	3	4	31	1	0	0	0	0	1	0	0	0	16714	507	18	3	484	3	TSSC1	2	3197900	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1271167	3197900	240001473	330	5882											
TTC15	51112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	3447573	3447573	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtccccttctcgatgCgcatcttgcacgcggagctt	10	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:3447573C>G	ENST00000324266.5	+	6	1636	c.1441C>G	c.(1441-1443)Cgc>Ggc	p.R481G	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481G|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	481					vesicle-mediated transport (GO:0016192)												CTTCTCGATGCGCATCTTGCA	0.547																																					p.R481G		.											.	.	0			c.C1441G						.						114	98	104					2																	3447573		2202	4300	6502	SO:0001583	missense	51112	exon6			TCGATGCGCATCT	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1441C>G	2.37:g.3447573C>G	ENSP00000324318:p.Arg481Gly	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	163	66	NM_016030	0	0	0	0	0	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.55|19.55|19.55	3.848660|3.848660|3.848660	0.71603|0.71603|0.71603	.|.|.	.|.|.	ENSG00000171853|ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000441983|ENST00000382110;ENST00000304601;ENST00000324266	.|.|T;T	.|.|0.61742	.|.|0.08;0.08	5.36|5.36|5.36	4.4|4.4|4.4	0.53042|0.53042|0.53042	.|.|.	.|.|0.066546	.|.|0.64402	.|.|D	.|.|0.000012	T|T|T	0.77831|0.77831|0.77831	0.4189|0.4189|0.4189	M|M|M	0.89287|0.89287|0.89287	3.02|3.02|3.02	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.89917	.|.|1.0;0.999	.|.|D;D	.|.|0.77557	.|.|0.99;0.981	T|T|T	0.81805|0.81805|0.81805	-0.0764|-0.0764|-0.0764	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	12.2188|12.2188|12.2188	0.54423|0.54423|0.54423	0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0	.|.|.	.|.|464;481	.|.|E7ENL7;Q8WVT3	.|.|.;TPC12_HUMAN	G|W|G	26|160|481;464;481	.|.|ENSP00000371544:R481G;ENSP00000324318:R481G	.|.|ENSP00000303612:R464G	A|C|R	+|+|+	2|3|1	0|2|0	TTC15|TTC15|TTC15	3426580|3426580|3426580	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	1.482000|1.482000|1.482000	0.35486|0.35486|0.35486	2.504000|2.504000|2.504000	0.84457|0.84457|0.84457	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCG|TGC|CGC	.		0.547	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		G	3447573	C	G	3447573	3	3	31	1	0	0	0	0	1	0	0	0	16731	768	27	2	1459	2	TTC15	2	3447573	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	249673	3447573	239751800	331	5883											
SOX11	6664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	5834070	5834070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattcgttcagcgagggcaGcctgggctcccacttcgagt	14	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:5834070G>T	ENST00000322002.3	+	1	1272	c.1217G>T	c.(1216-1218)aGc>aTc	p.S406I	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	406					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCGAGGGCAGCCTGGGCTCC	0.672																																					p.S406I		.											.	SOX11-514	0			c.G1217T						.						15	11	12					2																	5834070		1967	3753	5720	SO:0001583	missense	6664	exon1			AGGGCAGCCTGGG		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1217G>T	2.37:g.5834070G>T	ENSP00000322568:p.Ser406Ile	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	200	45	NM_003108	0	0	0	0	0	Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297134	0.81025	.	.	ENSG00000176887	ENST00000322002	D	0.98947	-5.26	4.91	4.91	0.64330	.	0.000000	0.85682	U	0.000000	D	0.99055	0.9676	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99831	1.1054	10	0.66056	D	0.02	.	18.0824	0.89445	0.0:0.0:1.0:0.0	.	406	P35716	SOX11_HUMAN	I	406	ENSP00000322568:S406I	ENSP00000322568:S406I	S	+	2	0	SOX11	5751521	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.514000	0.98013	2.276000	0.75962	0.561000	0.74099	AGC	.		0.672	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		T	5834070	G	T	5834070	3	4	31	1	0	0	0	0	1	0	0	0	14987	971	34	3	1219	3	SOX11	2	5834070	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2386497	5834070	237365303	332	5884											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	31	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1171299	7005369	236194004	333	5885											
FAM84A	151354	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	14774305	14774305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccctgcccggagagcCccagccgccaccaccaccac	8	24	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:14774305C>A	ENST00000295092.2	+	2	490	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P68T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	68										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CCCGGAGAGCCCCAGCCGCCA	0.627																																					p.P68T		.											.	FAM84A-91	0			c.C202A						.						18	22	21					2																	14774305		2203	4299	6502	SO:0001583	missense	151354	exon2			GAGAGCCCCAGCC	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.202C>A	2.37:g.14774305C>A	ENSP00000295092:p.Pro68Thr	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	73	29	NM_145175	0	0	0	0	0	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913803	0.52439	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.16457	2.34;2.34	4.96	4.96	0.65561	.	0.390682	0.21726	N	0.070048	T	0.13457	0.0326	N	0.22421	0.69	0.46823	D	0.999213	B	0.29253	0.239	B	0.24974	0.057	T	0.07177	-1.0786	10	0.51188	T	0.08	-19.2698	15.7236	0.77736	0.0:1.0:0.0:0.0	.	68	Q96KN4	FA84A_HUMAN	T	68	ENSP00000295092:P68T;ENSP00000330681:P68T	ENSP00000295092:P68T	P	+	1	0	FAM84A	14691756	0.954000	0.32549	1.000000	0.80357	0.994000	0.84299	3.077000	0.50089	2.426000	0.82243	0.655000	0.94253	CCC	.		0.627	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		A	14774305	C	A	14774305	3	1	31	1	0	0	0	0	1	0	0	0	5663	623	22	3	204	3	FAM84A	2	14774305	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7768936	14774305	228425068	334	5886											
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	15372587	15372587	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgctgcaacaacaccttcCaggaccttcagtgggtccct	8	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:15372587C>A	ENST00000281513.5	-	47	6220	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	NBAS_ENST00000441750.1_Silent_p.L1945L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2065					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						CAACACCTTCCAGGACCTTCA	0.473																																					p.L2065L		.											.	NBAS-94	0			c.G6195T						.						107	82	91					2																	15372587		2203	4300	6503	SO:0001819	synonymous_variant	51594	exon47			ACCTTCCAGGACC	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.6195G>T	2.37:g.15372587C>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	96	33	NM_015909	0	0	0	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229782	0.06022	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.67	1.48	0.22813	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22382	-1.0218	4	.	.	.	.	2.933	0.05805	0.3314:0.4209:0.1111:0.1366	.	.	.	.	L	1113	.	.	W	-	2	0	NBAS	15290038	0.971000	0.33674	1.000000	0.80357	0.308000	0.27856	-0.008000	0.12788	0.286000	0.22352	0.655000	0.94253	TGG	.		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		A	15372587	C	A	15372587	2	1	31	1	0	0	0	0	0	0	0	1	10224	581	21	3		3	NBAS	2	15372587	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	598282	15372587	227826786	335	5887											
FAM49A	81553	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	16743378	16743378	+	Frame_Shift_Del	DEL	C	C	-													ggtgtgtagggtggacaagtCagagattccaataaactctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:16743378delC	ENST00000381323.3	-	6	550	c.330delG	c.(328-330)ctgfs	p.L110fs	FAM49A_ENST00000406434.1_Frame_Shift_Del_p.L110fs|FAM49A_ENST00000355549.2_Frame_Shift_Del_p.L110fs	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	110						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GTGGACAAGTCAGAGATTCCA	0.443																																					p.L110fs		.											.	FAM49A-226	0			c.330delG						.						88	96	93					2																	16743378		2203	4300	6503	SO:0001589	frameshift_variant	81553	exon6			ACAAGTCAGAGAT	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.330delG	2.37:g.16743378delC	ENSP00000370724:p.Leu110fs	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	122	41	NM_030797	0	0	0	0	0	B3KNZ1|Q53QW2	Frame_Shift_Del	DEL	ENST00000381323.3	37	CCDS1688.1																																																																																			.		0.443	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		-	16743378	C	-	16743378	7	5	31	1	0	1	0	1	0	0	0	0	5597	813	29	0	669	0	FAM49A	2	16743378	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	1370791	16743378	226455995	336	5888											
RDH14	57665	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	18736655	18736655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgaaaaaagcccatgaCaccaaattgaagagtggttt	9	6	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:18736655C>T	ENST00000381249.3	-	2	920	c.813G>A	c.(811-813)gtG>gtA	p.V271V	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	271					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	AAGCCCATGACACCAAATTGA	0.458																																					p.V585V		.											.	.	0			c.G1755A						.						168	162	164					2																	18736655		2203	4300	6503	SO:0001819	synonymous_variant	100526794	exon9			CCATGACACCAAA	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.813G>A	2.37:g.18736655C>T		Somatic	184	1		WXS	Illumina GAIIx	Phase_I	143	28	NM_001199103	0	0	0	0	0		Silent	SNP	ENST00000381249.3	37	CCDS1693.1																																																																																			.		0.458	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			T	18736655	C	T	18736655	2	4	31	1	0	0	0	0	0	0	0	1	13238	465	17	3		3	RDH14	2	18736655	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1993277	18736655	224462718	337	5889											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	21228418	21228418	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcaaatgatgaagttctCagcttcttatagatttgtat	9	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:21228418C>A	ENST00000233242.1	-	26	11449	c.11322G>T	c.(11320-11322)ctG>ctT	p.L3774L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3774					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)					ATGAAGTTCTCAGCTTCTTAT	0.403																																					p.L3774L		.											.	APOB-175	0			c.G11322T						.						108	113	111					2																	21228418		2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			AGTTCTCAGCTTC	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.11322G>T	2.37:g.21228418C>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	80	19	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			.		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21228418	C	A	21228418	2	1	31	1	0	0	0	0	0	0	0	1	785	813	29	3		3	APOB	2	21228418	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2491763	21228418	221970955	338	5890											
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24110821	24110821	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaggtccccatctccCttcttttcccctcgaagggg	8	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:24110821C>G	ENST00000238789.5	-	4	796	c.453G>C	c.(451-453)aaG>aaC	p.K151N		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	151						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)					CCCCATCTCCCTTCTTTTCCC	0.378																																					p.K151N		.											.	ATAD2B-68	0			c.G453C						.						71	67	68					2																	24110821		1822	4081	5903	SO:0001583	missense	54454	exon4			ATCTCCCTTCTTT	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.453G>C	2.37:g.24110821C>G	ENSP00000238789:p.Lys151Asn	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	130	24	NM_001242338	0	0	0	0	0	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661097	0.47572	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	D;T	0.92299	-3.01;0.77	4.05	1.18	0.20946	.	.	.	.	.	T	0.80984	0.4729	N	0.08118	0	0.26157	N	0.980063	P;B	0.51933	0.949;0.421	B;B	0.40066	0.318;0.05	T	0.72554	-0.4258	9	0.39692	T	0.17	.	9.2708	0.37670	0.0:0.7354:0.0:0.2646	.	151;151	C9JG15;Q9ULI0	.;ATD2B_HUMAN	N	151	ENSP00000238789:K151N;ENSP00000403177:K151N	ENSP00000238789:K151N	K	-	3	2	ATAD2B	23964325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.817000	0.27281	0.466000	0.27193	0.563000	0.77884	AAG	.		0.378	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		G	24110821	C	G	24110821	3	3	31	1	0	0	0	0	1	0	0	0	1073	680	24	3	4023	3	ATAD2B	2	24110821	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2882403	24110821	219088552	339	5891											
OTOF	9381	bcgsc.ca	37	chr2	26696889	26696889	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacttgctgagcacgggccgGatgcccatgggcacgggcat	15	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:26696889G>T	ENST00000272371.2	-	27	3504	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	OTOF_ENST00000402415.3_Silent_p.I436I|OTOF_ENST00000339598.3_Silent_p.I379I|OTOF_ENST00000403946.3_Silent_p.I1126I|OTOF_ENST00000338581.6_Silent_p.I379I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1126					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)					GCACGGGCCGGATGCCCATGG	0.642																																					p.I1126I	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.C3378A						.						61	62	62					2																	26696889		2203	4298	6501	SO:0001819	synonymous_variant	9381	exon27			GGGCCGGATGCCC	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.3378C>A	2.37:g.26696889G>T		Somatic	329	4		WXS	Illumina GAIIx	Phase_I	366	162	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			.		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26696889	G	T	26696889	2	4	31	1	0	0	0	0	0	0	0	1	11342	1164	41	3		3	OTOF	2	26696889	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2586068	26696889	216502484	340	5892											
SLC30A3	7781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27479291	27479291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaacatggtaagtgagCgtaagggcccacaggtgcag	16	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:27479291C>T	ENST00000233535.4	-	7	1333	c.981G>A	c.(979-981)acG>acA	p.T327T	SLC30A3_ENST00000447008.2_Silent_p.T322T	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	327					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAGTGAGCGTAAGGGCCC	0.602																																					p.T327T		.											.	SLC30A3-90	0			c.G981A						.						74	66	69					2																	27479291		2203	4300	6503	SO:0001819	synonymous_variant	7781	exon7			AGTGAGCGTAAGG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.981G>A	2.37:g.27479291C>T		Somatic	308	0		WXS	Illumina GAIIx	Phase_I	358	68	NM_003459	0	0	0	0	0	Q8TC03	Silent	SNP	ENST00000233535.4	37	CCDS1743.1																																																																																			.		0.602	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			T	27479291	C	T	27479291	2	4	31	1	0	0	0	0	0	0	0	1	14601	755	27	1		1	SLC30A3	2	27479291	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	782402	27479291	215720082	341	5893											
ALK	238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	29497978	29497978	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttacctgtagggtcaaaGatgggggtctgtcttggtga	14	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:29497978G>T	ENST00000389048.3	-	11	2934	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	676					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TAGGGTCAAAGATGGGGGTCT	0.468			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.I676I		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK-3833	0			c.C2028A						.						98	98	98					2																	29497978		2203	4300	6503	SO:0001819	synonymous_variant	238	exon11	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GTCAAAGATGGGG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2028C>A	2.37:g.29497978G>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	113	39	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.468	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29497978	G	T	29497978	2	4	31	1	0	0	0	0	0	0	0	1	525	932	33	3		3	ALK	2	29497978	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2018687	29497978	213701395	342	5894											
ALK	238	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	29754793	29754793	+	Frame_Shift_Del	DEL	G	G	-													gtacttacccatgcttccctGgagtgggcatcaggaggatc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:29754793delG	ENST00000389048.3	-	4	2048	c.1142delC	c.(1141-1143)ccafs	p.P381fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	381	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATGCTTCCCTGGAGTGGGCAT	0.512			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.P381fs		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK-3833	0			c.1142delC						.						80	80	80					2																	29754793		2203	4300	6503	SO:0001589	frameshift_variant	238	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TTCCCTGGAGTGG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1142delC	2.37:g.29754793delG	ENSP00000373700:p.Pro381fs	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	88	37	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Frame_Shift_Del	DEL	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.512	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		-	29754793	G	-	29754793	7	5	31	1	0	1	0	1	0	0	0	0	525	1348	47	0	3824	0	ALK	2	29754793	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	256815	29754793	213444580	343	5895											
ALK	238	hgsc.bcm.edu	37	chr2	30143451	30143451	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcccgcgcgctggccGgtccccatcccggagcccac	15	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:30143451G>T	ENST00000389048.3	-	1	981	c.75C>A	c.(73-75)acC>acA	p.T25T	ALK_ENST00000431873.1_Silent_p.T25T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	25					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGCGCTGGCCGGTCCCCATCC	0.711			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.T25T		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	ALK-3833	0			c.C75A						.						6	8	8					2																	30143451		2102	4052	6154	SO:0001819	synonymous_variant	238	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CTGGCCGGTCCCC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.75C>A	2.37:g.30143451G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	9	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.711	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	30143451	G	T	30143451	2	4	31	1	0	0	0	0	0	0	0	1	525	1103	39	2		2	ALK	2	30143451	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	388658	30143451	213055922	344	5896											
XDH	7498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	31610680	31610680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggcatcacctaccagCaactctgggggaaaaatggg	12	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:31610680C>A	ENST00000379416.3	-	8	696	c.648G>T	c.(646-648)ttG>ttT	p.L216F	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	216					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACCTACCAGCAACTCTGGGG	0.522																																					p.L216F	Colon(66;682 1445 30109 40147)	.											.	XDH-158	0			c.G648T						.						28	27	27					2																	31610680		2202	4297	6499	SO:0001583	missense	7498	exon8			TACCAGCAACTCT	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.648G>T	2.37:g.31610680C>A	ENSP00000368727:p.Leu216Phe	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	58	13	NM_000379	0	0	0	0	0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629391	0.67015	.	.	ENSG00000158125	ENST00000379416	T	0.27557	1.66	5.8	1.35	0.21983	FAD-binding, type 2 (1);Xanthine dehydrogenase, small subunit (1);	0.066558	0.64402	D	0.000011	T	0.60919	0.2306	H	0.95780	3.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62506	-0.6840	10	0.87932	D	0	.	6.9635	0.24610	0.0:0.5398:0.2495:0.2107	.	216	P47989	XDH_HUMAN	F	216	ENSP00000368727:L216F	ENSP00000368727:L216F	L	-	3	2	XDH	31464184	1.000000	0.71417	0.981000	0.43875	0.878000	0.50629	0.940000	0.28992	0.349000	0.23975	0.563000	0.77884	TTG	.		0.522	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31610680	C	A	31610680	3	1	31	1	0	0	0	0	1	0	0	0	17475	709	25	3	3469	3	XDH	2	31610680	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1467229	31610680	211588693	345	5897											
NLRC4	58484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32477523	32477523	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaatagaggatagttcCactccttaagggatttaaga	9	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32477523C>T	ENST00000404025.2	-	4	715	c.227G>A	c.(226-228)tGg>tAg	p.W76*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.W76*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.W76*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.W76*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	76	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGATAGTTCCACTCCTTAAG	0.403																																					p.W76X		.											.	NLRC4-276	0			c.G227A						.						92	91	91					2																	32477523		2203	4300	6503	SO:0001587	stop_gained	58484	exon3			TAGTTCCACTCCT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.227G>A	2.37:g.32477523C>T	ENSP00000385090:p.Trp76*	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	89	40	NM_001199138	0	0	0	0	0	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985597	0.74589	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.1	4.1	0.47936	.	0.304955	0.23222	N	0.050557	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.4636	7.9191	0.29835	0.0:0.8859:0.0:0.114	.	.	.	.	X	76	.	ENSP00000339666:W76X	W	-	2	0	NLRC4	32331027	0.131000	0.22433	0.824000	0.32777	0.366000	0.29705	1.703000	0.37846	2.291000	0.77112	0.411000	0.27672	TGG	.		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		T	32477523	C	T	32477523	4	4	31	1	0	0	0	0	0	1	0	0	10508	595	21	3	2875	3	NLRC4	2	32477523	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	866843	32477523	210721850	346	5898											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	32673862	32673862	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcattattttatttttcaGatatggattatatagctcac	6	5	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32673862G>T	ENST00000421745.2	+	22	4618		c.e22-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						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)					TTATTTTTCAGATATGGATTA	0.348																																					.	Pancreas(94;175 1509 16028 18060 45422)	.											.	BIRC6-233	0			c.4485-1G>T						.						96	101	100					2																	32673862		2203	4300	6503	SO:0001630	splice_region_variant	57448	exon22			TTTTCAGATATGG	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.4485-1G>T	2.37:g.32673862G>T		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	34	13	NM_016252	0	0	0	0	0	Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476991	0.84640	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527366	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	.	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	T	32673862	G	T	32673862	5	4	31	1	0	0	0	0	0	0	1	0	1440	956	33	3	4570	3	BIRC6	2	32673862	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	196339	32673862	210525511	347	5899											
TTC27	55622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32865410	32865410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctacagcctgacctcgaAgcctatactactgttattag	6	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32865410A>C	ENST00000317907.4	+	4	701	c.470A>C	c.(469-471)aAg>aCg	p.K157T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	157										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						CTGACCTCGAAGCCTATACTA	0.403																																					p.K157T		.											.	TTC27-90	0			c.A470C						.						131	118	123					2																	32865410		2203	4300	6503	SO:0001583	missense	55622	exon4			CCTCGAAGCCTAT	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.470A>C	2.37:g.32865410A>C	ENSP00000313953:p.Lys157Thr	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	71	20	NM_017735	0	0	0	0	0	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	A	6.935	0.542219	0.13250	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.60424	0.19	5.46	4.32	0.51571	.	0.248848	0.44285	D	0.000472	T	0.48943	0.1528	M	0.62723	1.935	0.25024	N	0.991312	B	0.27823	0.19	B	0.24701	0.055	T	0.32955	-0.9887	10	0.19590	T	0.45	-14.0807	8.5144	0.33237	0.912:0.0:0.088:0.0	.	157	Q6P3X3	TTC27_HUMAN	T	107;157	ENSP00000313953:K157T	ENSP00000313953:K157T	K	+	2	0	TTC27	32718914	0.999000	0.42202	0.947000	0.38551	0.011000	0.07611	2.667000	0.46808	2.077000	0.62373	0.533000	0.62120	AAG	.		0.403	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		C	32865410	A	C	32865410	3	2	31	1	0	0	0	0	1	0	0	0	16744	72	3	5	484	5	TTC27	2	32865410	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	191548	32865410	210333963	348	5900											
RASGRP3	25780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	33752422	33752422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgagtgaactagtctcCctgcagaatgcctctcacca	7	15	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:33752422C>T	ENST00000403687.3	+	10	1766	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	RASGRP3_ENST00000402538.3_Silent_p.S342S|RASGRP3_ENST00000407811.1_Silent_p.S342S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	342	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACTAGTCTCCCTGCAGAATG	0.473																																					p.S342S		.											.	RASGRP3-661	0			c.C1026T						.						95	94	94					2																	33752422		1983	4168	6151	SO:0001819	synonymous_variant	25780	exon11			AGTCTCCCTGCAG	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1026C>T	2.37:g.33752422C>T		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	137	62	NM_170672	0	0	0	0	0	D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	CCDS46256.1																																																																																			.		0.473	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		T	33752422	C	T	33752422	2	4	31	1	0	0	0	0	0	0	0	1	13121	610	22	3		3	RASGRP3	2	33752422	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	887012	33752422	209446951	349	5901											
FAM98A	25940	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	33810384	33810384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgttcatagccacctctcCctcctcctcggcctcctgtt	5	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:33810384C>A	ENST00000238823.8	-	8	1156	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.G144V|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	340	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GCCACCTCTCCCTCCTCCTCG	0.602																																					p.G339V		.											.	FAM98A-91	0			c.G1016T						.						94	82	86					2																	33810384		2203	4300	6503	SO:0001583	missense	25940	exon8			CCTCTCCCTCCTC		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1016G>T	2.37:g.33810384C>A	ENSP00000238823:p.Gly339Val	Somatic	145	1		WXS	Illumina GAIIx	Phase_I	124	47	NM_015475	0	0	0	0	0	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332050	0.41297	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.86097	0.55;-2.07	5.4	5.4	0.78164	.	0.058529	0.64402	D	0.000003	D	0.82917	0.5141	N	0.08118	0	0.80722	D	1	D;D;D;D	0.60575	0.988;0.988;0.986;0.976	P;P;P;P	0.56278	0.736;0.736;0.795;0.629	D	0.87047	0.2144	10	0.72032	D	0.01	-4.6408	19.1748	0.93600	0.0:1.0:0.0:0.0	.	340;170;339;177	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	V	339;340;144	ENSP00000238823:G339V;ENSP00000408716:G144V	ENSP00000238823:G339V	G	-	2	0	FAM98A	33663888	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.313000	0.59160	2.532000	0.85374	0.313000	0.20887	GGG	.		0.602	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		A	33810384	C	A	33810384	3	1	31	1	0	0	0	0	1	0	0	0	5678	623	22	3	544	3	FAM98A	2	33810384	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	57962	33810384	209388989	350	5902											
QPCT	25797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	37599541	37599541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcaaggatcactcttTggaggggcggtatttccaga	12	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:37599541T>C	ENST00000338415.3	+	6	1024	c.866T>C	c.(865-867)tTg>tCg	p.L289S	QPCT_ENST00000537448.1_Missense_Mutation_p.L240S	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	289					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)				GATCACTCTTTGGAGGGGCGG	0.363																																					p.L289S		.											.	QPCT-90	0			c.T866C						.						188	185	186					2																	37599541		2203	4300	6503	SO:0001583	missense	25797	exon6			ACTCTTTGGAGGG	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.866T>C	2.37:g.37599541T>C	ENSP00000344829:p.Leu289Ser	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	189	76	NM_012413	0	0	0	0	0	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	T	5.130	0.209564	0.09757	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.42	-10.8	0.00216	Peptidase M28 (1);	1.215930	0.05425	N	0.544921	T	0.17619	0.0423	N	0.10782	0.045	0.19300	N	0.999977	B;B	0.15473	0.004;0.013	B;B	0.06405	0.001;0.002	T	0.11012	-1.0605	10	0.06099	T	0.92	-15.7398	6.3241	0.21234	0.0687:0.2038:0.0993:0.6283	.	240;289	Q16769-2;Q16769	.;QPCT_HUMAN	S	289;240;240;54	ENSP00000344829:L289S;ENSP00000385391:L240S;ENSP00000441606:L240S;ENSP00000389227:L54S	ENSP00000344829:L289S	L	+	2	0	QPCT	37453045	0.000000	0.05858	0.430000	0.26722	0.536000	0.34869	-2.232000	0.01205	-1.946000	0.01035	-1.074000	0.02243	TTG	.		0.363	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			C	37599541	T	C	37599541	3	2	31	1	0	0	0	0	1	0	0	0	12919	1821	63	4	888	4	QPCT	2	37599541	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3789157	37599541	205599832	351	5903											
SLC8A1	6546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	40656207	40656207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaagaagatcttactaacaGggtcattttcagtcacttca	6	9	5	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:40656207G>C	ENST00000403092.1	-	2	1247	c.1214C>G	c.(1213-1215)cCt>cGt	p.P405R	SLC8A1_ENST00000405269.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000406785.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P405R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P405R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	405	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTACTAACAGGGTCATTTTC	0.468																																					p.P405R		.											.	SLC8A1-93	0			c.C1214G						.						118	95	103					2																	40656207		2203	4300	6503	SO:0001583	missense	6546	exon1			CTAACAGGGTCAT		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1214C>G	2.37:g.40656207G>C	ENSP00000384763:p.Pro405Arg	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	175	41	NM_001252624	0	0	0	0	0	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951099	0.34471	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.73319	2.225	0.80722	D	1	D;D;D;P;D	0.76494	0.996;0.999;0.996;0.956;0.982	D;D;D;P;D	0.91635	0.979;0.999;0.979;0.777;0.941	T	0.36939	-0.9727	10	0.14252	T	0.57	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	405;405;405;405;405	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	R	405	ENSP00000383886:P405R;ENSP00000440727:P405R;ENSP00000384763:P405R;ENSP00000385678:P405R;ENSP00000385188:P405R;ENSP00000385535:P405R;ENSP00000332931:P405R;ENSP00000384908:P405R;ENSP00000385811:P405R;ENSP00000443515:P405R	ENSP00000332931:P405R	P	-	2	0	SLC8A1	40509711	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	6.536000	0.73842	2.941000	0.99782	0.655000	0.94253	CCT	.		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		C	40656207	G	C	40656207	3	2	31	1	0	0	0	0	1	0	0	0	14751	1000	35	3	1855	3	SLC8A1	2	40656207	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3056666	40656207	202543166	352	5904											
COX7A2L	9167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	42578413	42578413	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgatcaggcagtagatggtCcctcccacagtcagcgccat	11	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:42578413C>A	ENST00000378669.1	-	4	1120	c.291G>T	c.(289-291)ggG>ggT	p.G97G	COX7A2L_ENST00000234301.2_Silent_p.G97G|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	97					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						AGTAGATGGTCCCTCCCACAG	0.512																																					p.G97G		.											.	COX7A2L-226	0			c.G291T						.						90	74	80					2																	42578413		2203	4300	6503	SO:0001819	synonymous_variant	9167	exon3			GATGGTCCCTCCC	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.291G>T	2.37:g.42578413C>A		Somatic	299	0		WXS	Illumina GAIIx	Phase_I	309	62	NM_004718	0	0	0	0	0	Q9P118	Silent	SNP	ENST00000378669.1	37	CCDS1808.1																																																																																			.		0.512	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		A	42578413	C	A	42578413	2	1	31	1	0	0	0	0	0	0	0	1	3788	842	30	3		3	COX7A2L	2	42578413	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1922206	42578413	200620960	353	5905											
GTF2A1L	11036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	48872174	48872174	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaatttcttatatctagggCacttcaaactccagtgcaaa	5	9	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:48872174C>A	ENST00000403751.3	+	5	343	c.306C>A	c.(304-306)ggC>ggA	p.G102G	GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G806G|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G806G|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G806G|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000430487.2_Silent_p.G68G|STON1-GTF2A1L_ENST00000394754.1_Silent_p.G806G	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	102					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)			ATATCTAGGGCACTTCAAACT	0.368																																					p.G806G		.											.	STON1-GTF2A1L-27	0			c.C2418A						.						79	80	79					2																	48872174		2203	4300	6503	SO:0001819	synonymous_variant	286749	exon7			CTAGGGCACTTCA	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.306C>A	2.37:g.48872174C>A		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	33	8	NM_001198593	0	0	0	0	0	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																			.		0.368	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		A	48872174	C	A	48872174	2	1	31	1	0	0	0	0	0	0	0	1	6880	697	25	3		3	GTF2A1L	2	48872174	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6293761	48872174	194327199	354	5906											
NRXN1	9378	broad.mit.edu;mdanderson.org	37	chr2	50574004	50574004	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagggccaggcgcccCcctgcgccgccgccgccgcc	13	22	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:50574004C>T	ENST00000406316.2	-	18	4841				NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000342183.5_Silent_p.G28G|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000331040.5_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						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)			CCAGGCGCCCCCCTGcgccgc	0.756																																					p.G28G		.											.	NRXN1-92	0			c.G84A						.						8	8	8					2																	50574004		2171	4258	6429	SO:0001627	intron_variant	9378	exon1			GCGCCCCCCTGCG	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.3365-109896G>A	2.37:g.50574004C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	34	10	NM_138735	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			.		0.756	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50574004	C	T	50574004	1	4	31	0	1	0	0	0	0	0	0	0	10704	610	22	3		3	NRXN1	2	50574004	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1701830	50574004	192625369	355	5907											
ASB3	494143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	53992682	53992682	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaactgtagagcacgTgtccgcgtaagcctctgtaa	10	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:53992682T>A	ENST00000295304.4	+	0	0				GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.T48S|ASB3_ENST00000406625.2_Missense_Mutation_p.T45S|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000263634.3_Missense_Mutation_p.T10S	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)											endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAGAGCACGTGTCCGCGTAA	0.433																																					p.T48S		.											.	.	0			c.A142T						.						141	125	130					2																	53992682		2203	4300	6503	SO:0001631	upstream_gene_variant	100302652	exon2			AGCACGTGTCCGC	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 2"		"ChaC, cation transport regulator-like 2 (E. coli)"			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824		2.37:g.53992682T>A	Exception_encountered	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	100	41	NM_001164165	0	0	0	0	0	Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	CCDS33196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.60|10.60	1.395430|1.395430	0.25205|0.25205	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000352846;ENST00000446049	.|T;T;T	.|0.68025	.|-0.29;-0.28;-0.3	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Ankyrin repeat-containing domain (2);	.|0.231100	.|0.36066	.|N	.|0.002804	T|T	0.43010|0.43010	0.1228|0.1228	N|N	0.01874|0.01874	-0.695|-0.695	.|0.24909	.|N	.|0.992055	.|P;P;P	.|0.48911	.|0.727;0.86;0.917	.|B;B;P	.|0.47941	.|0.314;0.314;0.562	T|T	0.53244|0.53244	-0.8466|-0.8466	4|9	.|0.09338	.|T	.|0.73	-8.5775|-8.5775	12.0093|12.0093	0.53278|0.53278	0.0:0.0:0.144:0.856|0.0:0.0:0.144:0.856	.|.	.|10;45;10	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	L|S	2|10;45;48;10	.|ENSP00000263634:T10S;ENSP00000385085:T45S;ENSP00000313756:T48S	.|ENSP00000263634:T10S	H|T	-|-	2|1	0|0	ASB3|ASB3	53846186|53846186	0.919000|0.919000	0.31177|0.31177	0.379000|0.379000	0.26080|0.26080	0.134000|0.134000	0.20937|0.20937	2.289000|2.289000	0.43523|0.43523	2.239000|2.239000	0.73571|0.73571	0.533000|0.533000	0.62120|0.62120	CAC|ACG	.		0.433	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		A	53992682	T	A	53992682	1	1	31	0	1	0	0	0	0	0	0	0	1025	1696	59	5		5	ASB3	2	53992682	5'Flank	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3418678	53992682	189206691	356	5908											
GPR75	10936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	54080954	54080954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggctttggaatccttggCagtggagaggttgatggctg	16	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:54080954C>A	ENST00000394705.2	-	2	1210	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	314					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAATCCTTGGCAGTGGAGAGG	0.552																																					p.A314S		.											.	GPR75-92	0			c.G940T						.						138	123	128					2																	54080954		2203	4300	6503	SO:0001583	missense	10936	exon2			CCTTGGCAGTGGA	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.940G>T	2.37:g.54080954C>A	ENSP00000378195:p.Ala314Ser	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	177	63	NM_006794	0	0	0	0	0	B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153256	0.57259	.	.	ENSG00000119737	ENST00000394705	T	0.34472	1.36	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.056851	0.64402	D	0.000001	T	0.35335	0.0928	.	.	.	0.58432	D	0.999996	P	0.43392	0.805	P	0.45753	0.492	T	0.01889	-1.1253	9	0.20046	T	0.44	-14.0859	14.6124	0.68524	0.0:0.9285:0.0:0.0715	.	314	O95800	GPR75_HUMAN	S	314	ENSP00000378195:A314S	ENSP00000378195:A314S	A	-	1	0	GPR75	53934458	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	4.424000	0.59868	2.811000	0.96726	0.555000	0.69702	GCC	.		0.552	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			A	54080954	C	A	54080954	3	1	31	1	0	0	0	0	1	0	0	0	6734	710	25	3	686	3	GPR75	2	54080954	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	88272	54080954	189118419	357	5909											
MEIS1	4211	broad.mit.edu	37	chr2	66667049	66667050	+	Missense_Mutation	DNP	GG	GG	TT													ttgtaccccccgcgagccggGggtggcgggcggggacgtct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:66667049_66667050GG>TT	ENST00000272369.9	+	3	771_772	c.314_315GG>TT	c.(313-315)gGG>gTT	p.G105V	MEIS1_ENST00000398506.2_Missense_Mutation_p.G103V|MEIS1_ENST00000444274.2_Missense_Mutation_p.G73V|MEIS1_ENST00000560281.2_Missense_Mutation_p.G105V|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.G105V|MEIS1_ENST00000488550.1_Missense_Mutation_p.G105V|MEIS1_ENST00000495021.2_Missense_Mutation_p.G40V	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	105					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CGCGAGCCGGGGGTGGCGGGCG	0.47																																					p.G105V		.											.	MEIS1-226	0			c.G315T						.																																			SO:0001583	missense	4211	exon3			GCCGGGGGTGGCG		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	Exception_encountered	2.37:g.66667049_66667050delinsTT	ENSP00000272369:p.Gly105Val	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	47	1	NM_002398	0	0	0	0	0	A8MV50	Missense_Mutation	DNP	ENST00000272369.9	37	CCDS46309.1																																																																																			.		0.47	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		TT	66667050	GG	TT	66667049	3	4	31	1	0	0	0	0	1	0	0	0	9505	1232	43	3	324	3	MEIS1	2	66667049	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	12586095	66667049	176532324	358	5910											
APLF	200558	broad.mit.edu;bcgsc.ca	37	chr2	68805010	68805010	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacccaatgagtatgacctGaacgacagctttctagatga	8	10	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:68805010G>T	ENST00000303795.4	+	10	1563	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	464					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						AGTATGACCTGAACGACAGCT	0.408																																					p.L464L		.											.	APLF-92	0			c.G1392T						.						180	176	178					2																	68805010		2203	4300	6503	SO:0001819	synonymous_variant	200558	exon10			TGACCTGAACGAC	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.1392G>T	2.37:g.68805010G>T		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	117	48	NM_173545	0	0	0	0	0	A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	CCDS1888.1																																																																																			.		0.408	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		T	68805010	G	T	68805010	2	4	31	1	0	0	0	0	0	0	0	1	776	1277	45	3		3	APLF	2	68805010	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2137961	68805010	174394363	359	5911											
BMP10	27302	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	69092925	69092925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtggaccaaggcctggatAattgcatgctttgtgggtgt	15	6	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:69092925A>G	ENST00000295379.1	-	2	1271	c.1113T>C	c.(1111-1113)atT>atC	p.I371I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	371					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGGCCTGGATAATTGCATGCT	0.512																																					p.I371I		.											.	BMP10-92	0			c.T1113C						.						171	162	165					2																	69092925		2203	4300	6503	SO:0001819	synonymous_variant	27302	exon2			CTGGATAATTGCA	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1113T>C	2.37:g.69092925A>G		Somatic	206	2		WXS	Illumina GAIIx	Phase_I	172	84	NM_014482	0	0	0	0	0	Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																			.		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		G	69092925	A	G	69092925	2	3	31	1	0	0	0	0	0	0	0	1	1459	358	13	4		4	BMP10	2	69092925	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	287915	69092925	174106448	360	5912											
ASPRV1	151516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	70188807	70188807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatgcctaggctggccCctgggctccccattctcctt	9	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:70188807C>A	ENST00000320256.4	-	1	590	c.14G>T	c.(13-15)gGg>gTg	p.G5V	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TAGGCTGGCCCCTGGGCTCCC	0.667																																					p.G5V		.											.	ASPRV1-69	0			c.G14T						.						90	101	98					2																	70188807		2203	4299	6502	SO:0001583	missense	151516	exon1			CTGGCCCCTGGGC	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.14G>T	2.37:g.70188807C>A	ENSP00000315383:p.Gly5Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	66	13	NM_152792	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269741	0.40095	.	.	ENSG00000244617	ENST00000320256	T	0.62639	0.01	5.58	4.71	0.59529	.	.	.	.	.	T	0.49677	0.1571	N	0.08118	0	0.51767	D	0.999937	D	0.54601	0.967	P	0.50490	0.642	T	0.57883	-0.7734	9	0.87932	D	0	.	10.5319	0.44981	0.0:0.9107:0.0:0.0893	.	5	Q53RT3	APRV1_HUMAN	V	5	ENSP00000315383:G5V	ENSP00000315383:G5V	G	-	2	0	ASPRV1	70042311	0.935000	0.31712	0.998000	0.56505	0.027000	0.11550	1.386000	0.34419	1.348000	0.45733	0.655000	0.94253	GGG	.		0.667	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		A	70188807	C	A	70188807	3	1	31	1	0	0	0	0	1	0	0	0	1059	623	22	3	1021	3	ASPRV1	2	70188807	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1095882	70188807	173010566	361	5913											
ZNF638	27332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	71629179	71629179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttagcaaaaccatttggtGgtttaaaggatatcttgatt	8	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:71629179G>T	ENST00000409544.1	+	16	3421	c.2791G>T	c.(2791-2793)Ggt>Tgt	p.G931C	ZNF638_ENST00000264447.4_Missense_Mutation_p.G931C|ZNF638_ENST00000355812.3_Missense_Mutation_p.G931C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	931	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						ACCATTTGGTGGTTTAAAGGA	0.318																																					p.G931C		.											.	ZNF638-94	0			c.G2791T						.						79	83	81					2																	71629179		2202	4282	6484	SO:0001583	missense	27332	exon16			TTTGGTGGTTTAA	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.2791G>T	2.37:g.71629179G>T	ENSP00000386433:p.Gly931Cys	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	112	20	NM_014497	0	0	0	0	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636375	0.67130	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.55052	0.54;1.5;1.5	5.59	5.59	0.84812	.	0.369273	0.26307	N	0.025121	T	0.59197	0.2176	L	0.50333	1.59	0.37274	D	0.907542	P;D;D;D	0.55172	0.938;0.963;0.963;0.97	P;P;P;P	0.55999	0.62;0.789;0.789;0.671	T	0.65344	-0.6191	10	0.56958	D	0.05	-2.2434	10.5176	0.44898	0.0878:0.0:0.9122:0.0	.	931;931;931;931	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	C	510;931;931;931	ENSP00000348066:G931C;ENSP00000264447:G931C;ENSP00000386433:G931C	ENSP00000264447:G931C	G	+	1	0	ZNF638	71482687	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.699000	0.37804	2.635000	0.89317	0.585000	0.79938	GGT	.		0.318	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		T	71629179	G	T	71629179	3	4	31	1	0	0	0	0	1	0	0	0	18103	1348	47	3	2849	3	ZNF638	2	71629179	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1440372	71629179	171570194	362	5914											
DYSF	8291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	71709010	71709010	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttttctctttttcttccaggGatttgaatgggacctcaagg	9	8	3	1	rs369527668		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:71709010G>C	ENST00000258104.3	+	3	423	c.146G>C	c.(145-147)gGa>gCa	p.G49A	DYSF_ENST00000409744.1_Splice_Site_p.G50A|DYSF_ENST00000410020.3_Splice_Site_p.G50A|DYSF_ENST00000429174.2_Splice_Site_p.G49A|DYSF_ENST00000409582.3_Splice_Site_p.G49A|DYSF_ENST00000394120.2_Splice_Site_p.G50A|DYSF_ENST00000409651.1_Splice_Site_p.G50A|DYSF_ENST00000410041.1_Splice_Site_p.G50A|DYSF_ENST00000413539.2_Splice_Site_p.G49A|DYSF_ENST00000409762.1_Splice_Site_p.G49A|DYSF_ENST00000409366.1_Splice_Site_p.G50A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	49	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCTTCCAGGGATTTGAATGG	0.532																																					p.G50A		.											.	DYSF-158	0			c.G149C						.						65	64	64					2																	71709010		2203	4300	6503	SO:0001630	splice_region_variant	8291	exon3			TCCAGGGATTTGA	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.145-1G>C	2.37:g.71709010G>C		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	46	13	NM_001130984	0	0	0	0	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271664	0.80469	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.91	4.91	0.64330	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.133206	0.49916	D	0.000125	T	0.64405	0.2595	N	0.12637	0.245	0.52501	D	0.999953	D;D;D;D;P;P;P;P;D;P;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.859;0.859;0.859;0.744;0.999;0.859;0.994;0.998;0.998;0.998	D;D;D;D;B;B;B;B;D;P;D;D;D;D	0.69479	0.94;0.94;0.94;0.94;0.406;0.406;0.406;0.406;0.94;0.511;0.961;0.94;0.94;0.964	T	0.59611	-0.7422	10	0.11794	T	0.64	-21.5299	15.9192	0.79547	0.0:0.0:1.0:0.0	.	50;50;50;50;50;50;49;49;49;49;49;49;50;49	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	49;49;49;49;49;50;50;50;50;50;50	ENSP00000407046:G49A;ENSP00000387137:G49A;ENSP00000386547:G49A;ENSP00000398305:G49A;ENSP00000258104:G49A;ENSP00000386683:G50A;ENSP00000377678:G50A;ENSP00000386285:G50A;ENSP00000386512:G50A;ENSP00000386881:G50A;ENSP00000386617:G50A	ENSP00000258104:G49A	G	+	2	0	DYSF	71562518	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.169000	0.89672	2.440000	0.82611	0.563000	0.77884	GGA	.		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation	C	71709010	G	C	71709010	5	2	31	1	0	0	0	0	0	0	1	0	4873	1188	41	3	251	3	DYSF	2	71709010	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	79831	71709010	171490363	363	5915											
SPR	6697	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	73115545	73115545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccatgctctgcctgacttCcagcgtcctgaaggccttcc	8	17	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73115545C>T	ENST00000234454.5	+	2	480	c.407C>T	c.(406-408)tCc>tTc	p.S136F	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	136					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TGCCTGACTTCCAGCGTCCTG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S136F		.											.	SPR-92	0			c.C407T						.						174	151	159					2																	73115545		2203	4300	6503	SO:0001583	missense	6697	exon2			TGACTTCCAGCGT		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.407C>T	2.37:g.73115545C>T	ENSP00000234454:p.Ser136Phe	Somatic	244	1	1142	WXS	Illumina GAIIx	Phase_I	230	54	NM_003124	0	0	0	0	0	A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539755	0.45176	.	.	ENSG00000116096	ENST00000234454	D	0.87809	-2.3	5.62	5.62	0.85841	NAD(P)-binding domain (1);	0.486257	0.22684	N	0.056917	D	0.93184	0.7829	M	0.84156	2.68	0.26296	N	0.978059	D	0.69078	0.997	D	0.66602	0.945	D	0.88074	0.2802	10	0.72032	D	0.01	-10.9946	14.7207	0.69302	0.0:0.8545:0.1455:0.0	.	136	P35270	SPRE_HUMAN	F	136	ENSP00000234454:S136F	ENSP00000234454:S136F	S	+	2	0	SPR	72969053	0.582000	0.26749	0.025000	0.17156	0.068000	0.16541	4.642000	0.61383	2.648000	0.89879	0.561000	0.74099	TCC	.		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			T	73115545	C	T	73115545	3	4	31	1	0	0	0	0	1	0	0	0	15138	855	30	3	413	3	SPR	2	73115545	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1406535	73115545	170083828	364	5916											
EMX1	2016	broad.mit.edu	37	chr2	73151565	73151565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgagaagaaccactaCgtggtgggcgccgagcggaa	15	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73151565C>T	ENST00000258106.6	+	2	1026	c.648C>T	c.(646-648)taC>taT	p.Y216Y	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	183					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AGAACCACTACGTGGTGGGCG	0.711																																					p.Y216Y		.											.	EMX1-90	0			c.C648T						.						6	10	9					2																	73151565		2033	4162	6195	SO:0001819	synonymous_variant	2016	exon2			CCACTACGTGGTG	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.648C>T	2.37:g.73151565C>T		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_004097	0	0	0	0	0	Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	CCDS1921.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.957798|1.957798	0.34565|0.34565	.|.	.|.	ENSG00000135638|ENSG00000135638	ENST00000394111|ENST00000464675	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.46054|0.46054	0.1373|0.1373	.|.	.|.	.|.	0.24187|0.24187	N|N	0.995569|0.995569	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40572|0.40572	-0.9556|-0.9556	5|5	0.87932|0.87932	D|D	0|0	-5.8145|-5.8145	9.7175|9.7175	0.40283|0.40283	0.0:0.9027:0.0:0.0973|0.0:0.9027:0.0:0.0973	.|.	.|.	.|.	.|.	C|M	169|83	.|.	ENSP00000377670:R169C|ENSP00000449394:T83M	R|T	+|+	1|2	0|0	EMX1|EMX1	73005073|73005073	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.070000|0.070000	0.14573|0.14573	2.434000|2.434000	0.82447|0.82447	0.561000|0.561000	0.74099|0.74099	CGT|ACG	.		0.711	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			T	73151565	C	T	73151565	2	4	31	1	0	0	0	0	0	0	0	1	5123	547	19	1		1	EMX1	2	73151565	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	36020	73151565	170047808	365	5917											
EGR4	1961	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	73519448	73519448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtagggacccttgaaggCagagacagcgtccagcgctg	15	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73519448C>G	ENST00000545030.1	-	2	981	c.907G>C	c.(907-909)Gcc>Ccc	p.A303P	EGR4_ENST00000436467.2_Missense_Mutation_p.A200P	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	303	Pro-rich.				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						CCCTTGAAGGCAGAGACAGCG	0.701																																					p.A303P		.											.	EGR4-90	0			c.G907C						.						12	16	14					2																	73519448		2190	4274	6464	SO:0001583	missense	1961	exon2			TGAAGGCAGAGAC		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.907G>C	2.37:g.73519448C>G	ENSP00000445626:p.Ala303Pro	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	96	12	NM_001965	0	0	0	0	0	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686501	0.29962	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.14022	2.54;2.88	4.58	3.7	0.42460	.	0.270670	0.26432	N	0.024419	T	0.09158	0.0226	L	0.27053	0.805	0.30159	N	0.802366	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.07712	-1.0758	10	0.42905	T	0.14	-4.0209	7.358	0.26729	0.0:0.7376:0.1701:0.0923	.	200;303	Q05215;G3V1T5	EGR4_HUMAN;.	P	303;200	ENSP00000445626:A303P;ENSP00000419687:A200P	ENSP00000419687:A200P	A	-	1	0	EGR4	73372956	0.366000	0.25014	0.992000	0.48379	0.468000	0.32798	0.481000	0.22260	1.144000	0.42321	0.561000	0.74099	GCC	.		0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		G	73519448	C	G	73519448	3	3	31	1	0	0	0	0	1	0	0	0	4988	710	25	3	866	3	EGR4	2	73519448	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	367883	73519448	169679925	366	5918											
ALMS1	7840	broad.mit.edu;bcgsc.ca	37	chr2	73679621	73679621	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtctagttcctactcAcattcacataaagagaaact	6	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73679621A>T	ENST00000264448.6	+	8	6075	c.5964A>T	c.(5962-5964)tcA>tcT	p.S1988S	ALMS1_ENST00000377715.1_Silent_p.S1988S|ALMS1_ENST00000409009.1_Silent_p.S1946S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1988	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTCCTACTCACATTCACATA	0.423																																					p.S1988S		.											.	ALMS1-142	0			c.A5964T						.						88	83	84					2																	73679621		1866	4098	5964	SO:0001819	synonymous_variant	7840	exon8			CTACTCACATTCA	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.5964A>T	2.37:g.73679621A>T		Somatic	111	2		WXS	Illumina GAIIx	Phase_I	103	45	NM_015120	0	0	0	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			.		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		T	73679621	A	T	73679621	2	4	31	1	0	0	0	0	0	0	0	1	535	146	6	5		5	ALMS1	2	73679621	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	160173	73679621	169519752	367	5919											
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu	37	chr2	73717464	73717464	+	Frame_Shift_Del	DEL	G	G	-													tattttagcagaaggtagaaGgcaaagccaaaaattacctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73717464delG	ENST00000264448.6	+	10	8486	c.8375delG	c.(8374-8376)aggfs	p.R2792fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.R2750fs|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2792					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						GAAGGTAGAAGGCAAAGCCAA	0.373																																					p.R2792fs		.											.	ALMS1-142	0			c.8375delG						.						60	57	58					2																	73717464		1811	4077	5888	SO:0001589	frameshift_variant	7840	exon10			GTAGAAGGCAAAG	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.8375delG	2.37:g.73717464delG	ENSP00000264448:p.Arg2792fs	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	29	10	NM_015120	0	0	0	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	CCDS42697.1																																																																																			.		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		-	73717464	G	-	73717464	7	5	31	1	0	1	0	1	0	0	0	0	535	1000	35	0	8413	0	ALMS1	2	73717464	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	37843	73717464	169481909	368	5920											
TLX2	3196	hgsc.bcm.edu;bcgsc.ca	37	chr2	74742065	74742065	+	Frame_Shift_Del	DEL	T	T	-													ggtcgcgggggccagggtcaTggggagaatggggcgttctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74742065delT	ENST00000233638.7	+	1	455	c.132delT	c.(130-132)catfs	p.H44fs	TLX2_ENST00000497238.1_Intron	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	44	Gly-rich.			LGRGGQGHGENG -> WVAGQVIGEWA (in Ref. 2; CAA05636). {ECO:0000305}.	enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						GCCAGGGTCATGGGGAGAATG	0.701																																					p.H44fs	Esophageal Squamous(7;240 533 18610 24312)	.											.	TLX2-90	0			c.132delT						.						14	12	13					2																	74742065		2195	4289	6484	SO:0001589	frameshift_variant	3196	exon1			GGGTCATGGGGAG	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.132delT	2.37:g.74742065delT	ENSP00000233638:p.His44fs	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	169	44	NM_016170	0	0	0	0	0	Q9UD56|Q9UQ48	Frame_Shift_Del	DEL	ENST00000233638.7	37	CCDS1947.1																																																																																			.		0.701	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			-	74742065	T	-	74742065	7	5	31	1	0	1	0	1	0	0	0	0	16008	1461	51	0	134	0	TLX2	2	74742065	Frame_Shift_Del	DEL	T	TCGA-OR-A5KB-01A-11D-A30A-10	1024601	74742065	168457308	369	5921											
DQX1	165545	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	74746335	74746335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggagaaggtaatttccaGtcccgtctgtgtctctggcc	11	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74746335G>A	ENST00000404568.3	-	11	2048	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	DQX1_ENST00000393951.2_Missense_Mutation_p.T610I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	610						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTAATTTCCAGTCCCGTCTGT	0.493																																					p.T610I		.											.	DQX1-92	0			c.C1829T						.						80	85	83					2																	74746335		2203	4300	6503	SO:0001583	missense	165545	exon11			TTTCCAGTCCCGT	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1829C>T	2.37:g.74746335G>A	ENSP00000384621:p.Thr610Ile	Somatic	145	1		WXS	Illumina GAIIx	Phase_I	148	73	NM_133637	0	0	0	0	0	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119533	0.56505	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03004	4.08;4.08	5.44	5.44	0.79542	Domain of unknown function DUF1605 (1);	0.196781	0.34314	N	0.004080	T	0.04497	0.0123	L	0.43923	1.385	0.29911	N	0.823564	P	0.39352	0.669	B	0.38106	0.265	T	0.17018	-1.0383	10	0.37606	T	0.19	-25.5593	10.2436	0.43328	0.0901:0.0:0.9099:0.0	.	610	Q8TE96	DQX1_HUMAN	I	610	ENSP00000377523:T610I;ENSP00000384621:T610I	ENSP00000377523:T610I	T	-	2	0	DQX1	74599843	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.356000	0.66052	2.558000	0.86282	0.655000	0.94253	ACT	.		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		A	74746335	G	A	74746335	3	1	31	1	0	0	0	0	1	0	0	0	4765	1029	36	3	332	3	DQX1	2	74746335	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4270	74746335	168453038	370	5922											
AUP1	27429	bcgsc.ca	37	chr2	74756548	74756548	+	5'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagacgtggatcccgagaaaGaggcgcaggacgaggaggca	17	8	0	3	rs1183739	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74756548G>C	ENST00000258080.3	+	0	45				AUP1_ENST00000377526.3_Silent_p.L43L|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCGAGAAAGAGGCGCAGGA	0.662													G|||	234	0.0467252	0.0068	0.0432	5008	,	,		18412	0		0.169	False		,,,				2504	0.0256				p.L43L		.											.	AUP1-90	0			c.C129G						.	G	,,	117,4199		4,109,2045	23	34	30		,,129	1.9	1	2	dbSNP_87	30	1206,7292		88,1030,3131	no	utr-5,utr-5,coding-synonymous	AUP1,HTRA2	NM_013247.4,NM_145074.2,NM_181575.3	,,	92,1139,5176	CC,CG,GG		14.1916,2.7108,10.3246	,,	,,43/411	74756548	1323,11491	2158	4249	6407	SO:0001623	5_prime_UTR_variant	550	exon2			GAGAAAGAGGCGC		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-586G>C	2.37:g.74756548G>C		Somatic	316	2		WXS	Illumina GAIIx	Phase_I	370	9	NM_181575	0	0	0	0	0	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	CCDS1951.1																																																																																			G|0.284;C|0.716		0.662	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		C	74756548	G	C	74756548	1	2	31	0	1	0	0	0	0	0	0	0	1221	929	33	3		3	AUP1	2	74756548	5'UTR	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	10213	74756548	168442825	371	5923											
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	74761338	74761339	+	Missense_Mutation	DNP	GG	GG	TT													atgccttgctctccaaagttGgcacactcataccgcttgga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74761338_74761339GG>TT	ENST00000264094.3	-	12	2035_2036	c.1964_1965CC>AA	c.(1963-1965)gCC>gAA	p.A655E	LOXL3_ENST00000409549.1_Missense_Mutation_p.A599E|LOXL3_ENST00000409986.1_Missense_Mutation_p.A510E|LOXL3_ENST00000393937.2_Missense_Mutation_p.A510E|LOXL3_ENST00000409249.1_Missense_Mutation_p.A373E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	655	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCCAAAGTTGGCACACTCATA	0.5																																					p.A655E		.											.	LOXL3-226	0			c.C1964A						.																																			SO:0001583	missense	84695	exon12			AAGTTGGCACACT	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1964_1965delinsTT	2.37:g.74761338_74761339delinsTT	ENSP00000264094:p.Ala655Glu	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	190	2	NM_032603	0	0	0	0	0	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	DNP	ENST00000264094.3	37	CCDS1953.1																																																																																			.		0.5	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		TT	74761339	GG	TT	74761338	3	4	31	1	0	0	0	0	1	0	0	0	8936	1335	47	3	308	3	LOXL3	2	74761338	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	4790	74761338	168438035	372	5924											
TACR1	6869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	75425974	75425974	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaaggacaatttgccaGgctggttgcacgaactgatt	11	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:75425974G>C	ENST00000305249.5	-	1	852	c.87C>G	c.(85-87)gcC>gcG	p.A29A	TACR1_ENST00000409848.3_Silent_p.A29A	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	29					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CAATTTGCCAGGCTGGTTGCA	0.532																																					p.A29A	Pancreas(64;62 1268 3653 14826 43765)	.											.	TACR1-523	0			c.C87G						.						149	135	140					2																	75425974		2203	4300	6503	SO:0001819	synonymous_variant	6869	exon1			TTGCCAGGCTGGT	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.87C>G	2.37:g.75425974G>C		Somatic	322	0		WXS	Illumina GAIIx	Phase_I	302	89	NM_001058	0	0	0	0	0	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																			.		0.532	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		C	75425974	G	C	75425974	2	2	31	1	0	0	0	0	0	0	0	1	15552	987	35	3		3	TACR1	2	75425974	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	664636	75425974	167773399	373	5925											
LRRTM4	80059	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	77745615	77745615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcctcttcataagagaGtgttgctggagttgtttcat	11	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:77745615G>T	ENST00000409093.1	-	3	1716	c.1380C>A	c.(1378-1380)caC>caA	p.H460Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.H460Q|LRRTM4_ENST00000409088.3_Missense_Mutation_p.H460Q|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H461Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H461Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	460					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)		TCATAAGAGAGTGTTGCTGGA	0.483																																					p.H460Q		.											.	LRRTM4-94	0			c.C1380A						.						63	64	64					2																	77745615		1945	4157	6102	SO:0001583	missense	80059	exon3			AAGAGAGTGTTGC	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.1380C>A	2.37:g.77745615G>T	ENSP00000386357:p.His460Gln	Somatic	111	2		WXS	Illumina GAIIx	Phase_I	111	29	NM_024993	0	0	0	0	0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	3.180	-0.168198	0.06461	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.68	-2.38	0.06622	.	0.099067	0.64402	D	0.000002	T	0.60508	0.2274	L	0.47716	1.5	0.30711	N	0.749251	B;B;B	0.20887	0.029;0.049;0.029	B;B;B	0.25291	0.027;0.059;0.027	T	0.51348	-0.8717	10	0.22109	T	0.4	.	8.6195	0.33853	0.4852:0.1015:0.4133:0.0	.	461;460;460	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Q	461;460;460;460;461	ENSP00000387228:H461Q;ENSP00000387297:H460Q;ENSP00000386357:H460Q;ENSP00000386236:H460Q;ENSP00000386286:H461Q	ENSP00000386236:H460Q	H	-	3	2	LRRTM4	77599123	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	0.865000	0.27940	-0.380000	0.07894	-0.126000	0.14955	CAC	.		0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77745615	G	T	77745615	3	4	31	1	0	0	0	0	1	0	0	0	9077	1020	36	3	406	3	LRRTM4	2	77745615	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2319641	77745615	165453758	374	5926											
LRRTM4	80059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	77746839	77746839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgttctcagggatatctgcGaaagcatgagactcacagta	10	8	3	1	rs76327576	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:77746839G>C	ENST00000409093.1	-	3	492	c.156C>G	c.(154-156)ttC>ttG	p.F52L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.F52L|LRRTM4_ENST00000409088.3_Missense_Mutation_p.F52L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.F53L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.F53L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	52	LRRNT.				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)		GGATATCTGCGAAAGCATGAG	0.463													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		18305	0		0	False		,,,				2504	0				p.F52L		.											.	LRRTM4-94	0			c.C156G						.	G	LEU/PHE,LEU/PHE	45,3905		0,45,1930	115	110	112		156,156	-0.2	0.9	2	dbSNP_132	112	1,8309		0,1,4154	yes	missense,missense	LRRTM4	NM_001134745.1,NM_024993.4	22,22	0,46,6084	CC,CG,GG		0.012,1.1392,0.3752	benign,benign	52/591,52/519	77746839	46,12214	1975	4155	6130	SO:0001583	missense	80059	exon3			ATCTGCGAAAGCA	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.156C>G	2.37:g.77746839G>C	ENSP00000386357:p.Phe52Leu	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	137	24	NM_024993	0	0	0	0	0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	0.213	-1.035080	0.02029	0.011392	1.2E-4	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06	5.72	-0.181	0.13291	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01320	0.0043	N	0.10837	0.055	0.51012	D	0.999907	B;B;B	0.27882	0.121;0.192;0.121	B;B;B	0.32465	0.07;0.146;0.07	T	0.49360	-0.8948	10	0.02654	T	1	.	9.9543	0.41657	0.4829:0.0:0.5171:0.0	.	53;52;52	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	53;52;52;52;53	ENSP00000387228:F53L;ENSP00000387297:F52L;ENSP00000386357:F52L;ENSP00000386236:F52L;ENSP00000386286:F53L	ENSP00000386236:F52L	F	-	3	2	LRRTM4	77600347	0.994000	0.37717	0.916000	0.36221	0.995000	0.86356	0.367000	0.20382	-0.333000	0.08476	0.655000	0.94253	TTC	G|0.996;C|0.004		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		C	77746839	G	C	77746839	3	2	31	1	0	0	0	0	1	0	0	0	9077	1049	37	2	1630	2	LRRTM4	2	77746839	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1224	77746839	165452534	375	5927											
REG3A	5068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	79385466	79385466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctgtgtggggtcatGgagcccaatccagacgtatg	14	10	1	1	rs11554092		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:79385466G>C	ENST00000409839.3	-	4	355	c.319C>G	c.(319-321)Cat>Gat	p.H107D	REG3A_ENST00000393878.1_Missense_Mutation_p.H107D|REG3A_ENST00000305165.2_Missense_Mutation_p.H107D|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|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 space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTGGGGTCATGGAGCCCAATC	0.572																																					p.H107D		.											.	REG3A-91	0			c.C319G						.						131	105	114					2																	79385466		2203	4300	6503	SO:0001583	missense	5068	exon3			GGTCATGGAGCCC	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.319C>G	2.37:g.79385466G>C	ENSP00000386630:p.His107Asp	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	131	28	NM_138938	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409839.3	37	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438725	0.25900	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.15256	2.44;2.44;2.44	4.02	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.224065	0.32041	N	0.006673	T	0.46795	0.1411	M	0.93241	3.395	0.35701	D	0.815627	D	0.76494	0.999	D	0.79108	0.992	T	0.62210	-0.6902	10	0.72032	D	0.01	.	7.7498	0.28890	0.1137:0.0:0.8863:0.0	.	107	Q06141	REG3A_HUMAN	D	107	ENSP00000386630:H107D;ENSP00000377456:H107D;ENSP00000304311:H107D	ENSP00000304311:H107D	H	-	1	0	REG3A	79238974	0.995000	0.38212	0.999000	0.59377	0.013000	0.08279	0.307000	0.19296	1.282000	0.44496	-0.199000	0.12753	CAT	.		0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		C	79385466	G	C	79385466	3	2	31	1	0	0	0	0	1	0	0	0	13257	1348	47	3	220	3	REG3A	2	79385466	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1638627	79385466	163813907	376	5928											
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	79878752	79878752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatccggacgctaacaGtggaaaggctgttggagcca	14	8	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:79878752G>T	ENST00000402739.4	+	1	75	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	CTNNA2_ENST00000540488.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000409266.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V24L|MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V58L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	24					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						GACGCTAACAGTGGAAAGGCT	0.423																																					p.V24L		.											.	CTNNA2-368	0			c.G70T						.						82	81	81					2																	79878752		1867	4095	5962	SO:0001583	missense	1496	exon2			CTAACAGTGGAAA		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.70G>T	2.37:g.79878752G>T	ENSP00000384638:p.Val24Leu	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	91	34	NM_001164883	0	0	0	0	0	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	27.8	4.864951	0.91511	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000409266;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.75752	0.3892	M	0.90977	3.165	0.80722	D	1	D;P;P	0.62365	0.991;0.471;0.471	D;P;P	0.70935	0.971;0.686;0.456	T	0.80341	-0.1423	10	0.72032	D	0.01	.	17.8263	0.88666	0.0:0.0:1.0:0.0	.	24;24;24	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	24;24;24;24;58;24;24;24;24	ENSP00000418191:V24L;ENSP00000419295:V24L;ENSP00000400105:V24L;ENSP00000387073:V24L;ENSP00000355398:V58L;ENSP00000384638:V24L;ENSP00000444675:V24L;ENSP00000441705:V24L	ENSP00000355398:V58L	V	+	1	0	CTNNA2	79732260	1.000000	0.71417	0.993000	0.49108	0.689000	0.40095	9.003000	0.93577	2.805000	0.96524	0.655000	0.94253	GTG	.		0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	79878752	G	T	79878752	3	4	31	1	0	0	0	0	1	0	0	0	4022	1029	36	3	72	3	CTNNA2	2	79878752	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	493286	79878752	163320621	377	5929											
LRRTM1	347730	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	80530470	80530470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgagcttccgcagccCgtggaagaggtcgggcgcga	18	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:80530470C>A	ENST00000295057.3	-	2	1131	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G159W|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	159					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G159W(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTCCGCAGCCCGTGGAAGAGG	0.637										HNSCC(69;0.2)																											p.G159W		.											.	LRRTM1-73	2	Substitution - Missense(2)	lung(2)	c.G475T						.						73	80	78					2																	80530470		2203	4300	6503	SO:0001583	missense	347730	exon2			GCAGCCCGTGGAA	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.475G>T	2.37:g.80530470C>A	ENSP00000295057:p.Gly159Trp	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	110	51	NM_178839	0	0	0	0	0	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615870	0.66672	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.6	4.6	0.57074	.	0.000000	0.85682	U	0.000000	D	0.82907	0.5139	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86899	0.2053	9	.	.	.	.	17.4068	0.87475	0.0:1.0:0.0:0.0	.	159	Q86UE6	LRRT1_HUMAN	W	159	ENSP00000295057:G159W;ENSP00000386646:G159W;ENSP00000415368:G159W;ENSP00000389473:G159W	.	G	-	1	0	LRRTM1	80383981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.078000	0.62432	0.543000	0.68304	GGG	.		0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		A	80530470	C	A	80530470	3	1	31	1	0	0	0	0	1	0	0	0	9074	652	23	2	1097	2	LRRTM1	2	80530470	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	651718	80530470	162668903	378	5930											
RETSAT	54884	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	85577993	85577993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggctttctctccactgtaCatggggtactcctttcggcc	9	13	1	0	rs201722519	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:85577993C>T	ENST00000295802.4	-	3	619	c.507G>A	c.(505-507)atG>atA	p.M169I	RETSAT_ENST00000457495.2_Missense_Mutation_p.M108I|RETSAT_ENST00000263854.6_Missense_Mutation_p.M169I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	169					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCCACTGTACATGGGGTACT	0.502													C|||	2	0.000399361	0	0	5008	,	,		20936	0.002		0	False		,,,				2504	0				p.M169I		.											.	RETSAT-70	0			c.G507A						.						116	106	109					2																	85577993		2203	4300	6503	SO:0001583	missense	54884	exon3			ACTGTACATGGGG	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.507G>A	2.37:g.85577993C>T	ENSP00000295802:p.Met169Ile	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	167	69	NM_017750	0	0	0	0	0	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	8.274|8.274	0.813968|0.813968	0.16537|0.16537	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T;T	.|0.58060	.|0.36;0.36;0.36	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.044191	.|0.85682	.|D	.|0.000000	T|T	0.33059|0.33059	0.0850|0.0850	N|N	0.11756|0.11756	0.17|0.17	0.47374|0.47374	D|D	0.999402|0.999402	.|B;B	.|0.20052	.|0.041;0.024	.|B;B	.|0.15484	.|0.013;0.006	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.02654	.|T	.|1	-36.574|-36.574	17.8186|17.8186	0.88643|0.88643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108;169	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	Y|I	108|169;169;108	.|ENSP00000295802:M169I;ENSP00000263854:M169I;ENSP00000405040:M108I	.|ENSP00000263854:M169I	C|M	-|-	2|3	0|0	RETSAT|RETSAT	85431504|85431504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	1.723000|1.723000	0.38053|0.38053	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	TGT|ATG	C|0.999;T|0.001		0.502	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		T	85577993	C	T	85577993	3	4	31	1	0	0	0	0	1	0	0	0	13283	478	17	3	1361	3	RETSAT	2	85577993	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5047523	85577993	157621380	379	5931											
CAPG	822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	85625897	85625897	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagagcaggcttgggGcccaggacctgcaggggcca	15	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:85625897G>T	ENST00000409921.1	-	7	696	c.630C>A	c.(628-630)ggC>ggA	p.G210G	CAPG_ENST00000409670.1_Silent_p.G225G|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Silent_p.G225G|CAPG_ENST00000263867.4_Silent_p.G225G			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGGCTTGGGGCCCAGGACCT	0.647																																					p.G225G		.											.	CAPG-204	0			c.C675A						.						41	35	37					2																	85625897		2203	4300	6503	SO:0001819	synonymous_variant	822	exon7			CTTGGGGCCCAGG	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.630C>A	2.37:g.85625897G>T		Somatic	125	2		WXS	Illumina GAIIx	Phase_I	162	30	NM_001256139	0	0	0	0	0	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	CCDS58715.1																																																																																			.		0.647	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		T	85625897	G	T	85625897	2	4	31	1	0	0	0	0	0	0	0	1	2628	1190	42	3		3	CAPG	2	85625897	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	47904	85625897	157573476	380	5932											
VPS24	51652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	86769415	86769415	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actctcatttcctttcttatCttcaatgaccactcattgac	2	13	5	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:86769415C>A	ENST00000263856.4	-	2	194	c.66G>T	c.(64-66)aaG>aaT	p.K22N	CHMP3_ENST00000409225.2_Intron|CHMP3_ENST00000409727.1_Missense_Mutation_p.K22N|CHMP3_ENST00000439940.2_Missense_Mutation_p.K51N|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.K51N	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	22	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CCTTTCTTATCTTCAATGACC	0.328																																					p.K51N		.											.	.	0			c.G153T						.						117	111	113					2																	86769415		2203	4298	6501	SO:0001583	missense	100526767	exon4			TCTTATCTTCAAT	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.66G>T	2.37:g.86769415C>A	ENSP00000263856:p.Lys22Asn	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	106	31	NM_001198954	0	0	0	0	0	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253138	0.59212	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.89050	-0.7;-2.46;-0.7;-0.7	5.39	5.39	0.77823	.	0.095371	0.64402	D	0.000001	D	0.91818	0.7411	M	0.67569	2.06	0.80722	D	1	B;P;D	0.54601	0.052;0.703;0.967	B;B;P	0.57911	0.092;0.283;0.829	D	0.89754	0.3942	10	0.27785	T	0.31	-28.6112	15.005	0.71504	0.0:1.0:0.0:0.0	.	51;22;22	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	N	22;22;51;129	ENSP00000263856:K22N;ENSP00000387045:K22N;ENSP00000405575:K51N;ENSP00000392995:K129N	ENSP00000392995:K129N	K	-	3	2	VPS24;RNF103-VPS24	86622926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.468000	0.35332	2.690000	0.91761	0.655000	0.94253	AAG	.		0.328	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		A	86769415	C	A	86769415	3	1	31	1	0	0	0	0	1	0	0	0	17244	912	32	3	622	3	VPS24	2	86769415	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1143518	86769415	156429958	381	5933											
CD8A	925	hgsc.bcm.edu	37	chr2	87016799	87016799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccggcacgcctctgggcGcagggacaggggctgcgacg	19	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:87016799G>T	ENST00000409511.2	-	6	1508	c.478C>A	c.(478-480)Cgc>Agc	p.R160S	CD8A_ENST00000456996.2_Missense_Mutation_p.R160S|CD8A_ENST00000538832.1_Missense_Mutation_p.R201S|CD8A_ENST00000352580.3_Missense_Mutation_p.R160S|CD8A_ENST00000409781.1_Intron|CD8A_ENST00000283635.3_Missense_Mutation_p.R160S	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	160					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GCCTCTGGGCGCAGGGACAGG	0.771																																					p.R160S		.											.	CD8A-91	0			c.C478A						.						4	5	5					2																	87016799		1890	3849	5739	SO:0001583	missense	925	exon6			CTGGGCGCAGGGA		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.478C>A	2.37:g.87016799G>T	ENSP00000386559:p.Arg160Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_001145873	0	0	0	0	0	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524634	0.27299	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832	T;T;T;T;T	0.77750	-1.12;-1.12;-1.07;-1.07;-1.12	3.69	-1.91	0.07641	.	0.616511	0.16782	N	0.199743	T	0.61825	0.2378	L	0.43554	1.36	0.09310	N	1	B;B;P	0.37276	0.182;0.05;0.589	B;B;B	0.32583	0.027;0.016;0.148	T	0.52888	-0.8515	10	0.46703	T	0.11	-8.2574	6.2681	0.20939	0.0997:0.0:0.2846:0.6156	.	201;160;160	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	S	160;160;160;160;145;201	ENSP00000398868:R160S;ENSP00000321631:R160S;ENSP00000283635:R160S;ENSP00000386559:R160S;ENSP00000438371:R201S	ENSP00000283635:R160S	R	-	1	0	CD8A	86870310	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.404000	0.07205	-0.417000	0.07461	0.561000	0.74099	CGC	.		0.771	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		T	87016799	G	T	87016799	3	4	31	1	0	0	0	0	1	0	0	0	3051	1087	38	2	245	2	CD8A	2	87016799	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	247384	87016799	156182574	382	5934											
C2orf51	200523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	88828736	88828736	+	Frame_Shift_Del	DEL	G	G	-													acaggaacatgaggccacgaGggaggacgagcgcaagttca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:88828736delG	ENST00000303254.3	+	4	429	c.287delG	c.(286-288)aggfs	p.R96fs		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	96						nucleus (GO:0005634)											GAGGCCACGAGGGAGGACGAG	0.572																																					p.R96fs		.											.	.	0			c.287delG						.						140	128	132					2																	88828736		2203	4300	6503	SO:0001589	frameshift_variant	200523	exon4			CCACGAGGGAGGA	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.287delG	2.37:g.88828736delG	ENSP00000307142:p.Arg96fs	Somatic	241	0		WXS	Illumina GAIIx	Phase_I	293	83	NM_152670	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000303254.3	37	CCDS2003.1																																																																																			.		0.572	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		-	88828736	G	-	88828736	7	5	31	1	0	1	0	1	0	0	0	0	2180	1000	35	0	297	0	C2orf51	2	88828736	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	1811937	88828736	154370637	383	5935											
ADRA2B	151	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	96780750	96780750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagaaggggaaccagCagagcacaaaaacgccaatg	12	8	0	4	rs369104505		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:96780750C>A	ENST00000409345.3	-	1	1234	c.1139G>T	c.(1138-1140)tGc>tTc	p.C380F		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	380					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGGAACCAGCAGAGCACAAA	0.602																																					p.C380F		.											.	ADRA2B-229	0			c.G1139T						.						51	58	56					2																	96780750		2191	4295	6486	SO:0001583	missense	151	exon1			AACCAGCAGAGCA	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1139G>T	2.37:g.96780750C>A	ENSP00000387281:p.Cys380Phe	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	180	78	NM_000682	0	0	0	0	0	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340807	0.81911	.	.	ENSG00000222040	ENST00000409345	T	0.52295	0.67	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.79975	0.4539	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86487	0.1795	9	0.87932	D	0	.	17.2158	0.86943	0.0:1.0:0.0:0.0	.	383	P18089	ADA2B_HUMAN	F	380	ENSP00000387281:C380F	ENSP00000387281:C380F	C	-	2	0	ADRA2B	96144477	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.810000	0.86072	2.662000	0.90505	0.558000	0.71614	TGC	.		0.602	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			A	96780750	C	A	96780750	3	1	31	1	0	0	0	0	1	0	0	0	338	710	25	3	208	3	ADRA2B	2	96780750	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7952014	96780750	146418623	384	5936											
STARD7	56910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	96858161	96858161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggattcatatgatctgacCctgacgaattctggagactc	10	9	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:96858161C>A	ENST00000337288.5	-	6	1172	c.789G>T	c.(787-789)agG>agT	p.R263S	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	263	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATGATCTGACCCTGACGAATT	0.433																																					p.R263S		.											.	STARD7-68	0			c.G789T						.						199	191	193					2																	96858161		2203	4300	6503	SO:0001583	missense	56910	exon6			TCTGACCCTGACG	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.789G>T	2.37:g.96858161C>A	ENSP00000338030:p.Arg263Ser	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	111	48	NM_020151	0	0	0	0	0	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252236	0.80135	.	.	ENSG00000084090	ENST00000337288	T	0.71341	-0.56	5.91	2.92	0.33932	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.87328	2.875	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81618	-0.0851	10	0.87932	D	0	-29.4044	4.3556	0.11176	0.192:0.6242:0.0:0.1838	.	263	Q9NQZ5	STAR7_HUMAN	S	263	ENSP00000338030:R263S	ENSP00000338030:R263S	R	-	3	2	STARD7	96221888	0.913000	0.31002	1.000000	0.80357	0.991000	0.79684	-0.030000	0.12308	1.509000	0.48786	-0.136000	0.14681	AGG	.		0.433	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			A	96858161	C	A	96858161	3	1	31	1	0	0	0	0	1	0	0	0	15309	622	22	3	335	3	STARD7	2	96858161	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	77411	96858161	146341212	385	5937											
INPP4A	3631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	99181141	99181141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcttcatcattaagctgagGaactgcctgcatgacgacgg	12	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:99181141G>T	ENST00000523221.1	+	18	2082	c.2082G>T	c.(2080-2082)agG>agT	p.R694S	INPP4A_ENST00000074304.5_Missense_Mutation_p.R694S|INPP4A_ENST00000409851.3_Missense_Mutation_p.R689S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.R655S|INPP4A_ENST00000409540.3_Missense_Mutation_p.R655S|INPP4A_ENST00000545415.1_Missense_Mutation_p.R655S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	694					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTAAGCTGAGGAACTGCCTGC	0.627																																					p.R694S		.											.	INPP4A-227	0			c.G2082T						.						35	39	38					2																	99181141		2115	4214	6329	SO:0001583	missense	3631	exon20			GCTGAGGAACTGC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2082G>T	2.37:g.99181141G>T	ENSP00000427722:p.Arg694Ser	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	143	30	NM_001134224	0	0	0	0	0	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716172	0.68844	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.15	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.37630	1.12	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;0.997;0.999;1.0	D;D;D;D	0.87578	0.99;0.983;0.995;0.998	T	0.07424	-1.0773	10	0.21014	T	0.42	-18.6216	6.6287	0.22845	0.1541:0.1556:0.6904:0.0	.	655;655;694;689	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	S	655;689;694;655;655;694	ENSP00000386704:R655S;ENSP00000386777:R689S;ENSP00000074304:R694S;ENSP00000442149:R655S;ENSP00000387294:R655S;ENSP00000427722:R694S	ENSP00000074304:R694S	R	+	3	2	INPP4A	98547573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.760000	0.47581	1.347000	0.45714	0.563000	0.77884	AGG	.		0.627	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		T	99181141	G	T	99181141	3	4	31	1	0	0	0	0	1	0	0	0	7779	1165	41	3	2152	3	INPP4A	2	99181141	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2322980	99181141	144018232	386	5938											
TBC1D8	11138	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	101670676	101670676	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcagcaggagtagtaggtGaccagcttctccgcctcggg	14	12	1	1	rs78556703	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:101670676G>A	ENST00000376840.4	-	4	479	c.480C>T	c.(478-480)gtC>gtT	p.V160V	TBC1D8_ENST00000409318.1_Silent_p.V175V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	160	GRAM 1.				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						AGTAGTAGGTGACCAGCTTCT	0.612													G|||	24	0.00479233	0.0166	0.0029	5008	,	,		18017	0		0	False		,,,				2504	0				p.V160V		.											.	TBC1D8-25	0			c.C480T						.	G		73,4143		0,73,2035	38	44	42		480	3.8	1	2	dbSNP_132	42	5,8523		0,5,4259	no	coding-synonymous	TBC1D8	NM_001102426.1		0,78,6294	AA,AG,GG		0.0586,1.7315,0.6121		160/1141	101670676	78,12666	2108	4264	6372	SO:0001819	synonymous_variant	11138	exon4			GTAGGTGACCAGC	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.480C>T	2.37:g.101670676G>A		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	123	20	NM_001102426	0	0	0	0	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	CCDS46375.1																																																																																			G|0.993;A|0.007		0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		A	101670676	G	A	101670676	2	1	31	1	0	0	0	0	0	0	0	1	15672	1277	45	3		3	TBC1D8	2	101670676	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2489535	101670676	141528697	387	5939											
SLC9A4	389015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	103090435	103090435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcaaattccttatgagGtcactctctggatacttcta	7	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:103090435G>T	ENST00000295269.4	+	1	674	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	73					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTTATGAGGTCACTCTCTG	0.403																																					p.V73F		.											.	SLC9A4-92	0			c.G217T						.						117	113	114					2																	103090435		2203	4300	6503	SO:0001583	missense	389015	exon1			TATGAGGTCACTC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.217G>T	2.37:g.103090435G>T	ENSP00000295269:p.Val73Phe	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	95	37	NM_001011552	0	0	0	0	0	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107879	0.77096	.	.	ENSG00000180251	ENST00000295269	T	0.70986	-0.53	6.04	6.04	0.98038	Cation/H+ exchanger (1);	0.173853	0.51477	D	0.000099	T	0.71829	0.3386	L	0.54323	1.7	0.58432	D	0.999994	P	0.35982	0.531	B	0.42798	0.398	T	0.73081	-0.4095	10	0.66056	D	0.02	.	13.7479	0.62887	0.0698:0.0:0.9302:0.0	.	73	Q6AI14	SL9A4_HUMAN	F	73	ENSP00000295269:V73F	ENSP00000295269:V73F	V	+	1	0	SLC9A4	102456867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.052000	0.49893	2.873000	0.98535	0.563000	0.77884	GTC	.		0.403	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103090435	G	T	103090435	3	4	31	1	0	0	0	0	1	0	0	0	14761	1261	44	3	219	3	SLC9A4	2	103090435	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1419759	103090435	140108938	388	5940											
RGPD3	653489	bcgsc.ca	37	chr2	107029644	107029644	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactacctggcttcaagaaaAtgaactgcagcaagacgttc	8	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107029644A>T	ENST00000409886.3	-	22	5249	c.5162T>A	c.(5161-5163)aTt>aAt	p.I1721N	RGPD3_ENST00000304514.7_Missense_Mutation_p.I1721N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1721	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCAAGAAAATGAACTGCAG	0.428																																					p.I1721N		.											.	RGPD3-23	0			c.T5162A						.						56	83	75					2																	107029644		692	1590	2282	SO:0001583	missense	653489	exon22			AAGAAAATGAACT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5162T>A	2.37:g.107029644A>T	ENSP00000386588:p.Ile1721Asn	Somatic	983	7		WXS	Illumina GAIIx	Phase_I	1002	221	NM_001144013	0	0	0	0	0	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428222	0.25726	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.50548	0.75;0.74	1.12	1.12	0.20585	GRIP (3);	.	.	.	.	T	0.60183	0.2249	M	0.69823	2.125	0.29370	N	0.864065	D	0.63880	0.993	D	0.64410	0.925	T	0.54186	-0.8331	9	0.87932	D	0	-13.1199	6.4006	0.21636	1.0:0.0:0.0:0.0	.	1721	A6NKT7	RGPD3_HUMAN	N	95;1721;1088;1721	ENSP00000386588:I1721N;ENSP00000303659:I1721N	ENSP00000303659:I1721N	I	-	2	0	RGPD3	106396076	1.000000	0.71417	0.947000	0.38551	0.019000	0.09904	6.520000	0.73773	0.785000	0.33685	0.138000	0.15974	ATT	.		0.428	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		T	107029644	A	T	107029644	3	4	31	1	0	0	0	0	1	0	0	0	13332	101	4	5	122	5	RGPD3	2	107029644	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3939209	107029644	136169729	389	5941											
RGPD3	653489	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	107041065	107041065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccagagaggggcttcaGgttcattgtagtcgttatcc	12	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107041065G>A	ENST00000409886.3	-	20	3445	c.3358C>T	c.(3358-3360)Ctg>Ttg	p.L1120L	RGPD3_ENST00000304514.7_Silent_p.L1120L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1120	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGGGGCTTCAGGTTCATTGTA	0.413																																					p.L1120L		.											.	RGPD3-23	0			c.C3358T						.						2	2	2					2																	107041065		571	1313	1884	SO:0001819	synonymous_variant	653489	exon20			GCTTCAGGTTCAT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3358C>T	2.37:g.107041065G>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	27	12	NM_001144013	0	0	0	0	0	B8ZZM4	Silent	SNP	ENST00000409886.3	37	CCDS46379.1																																																																																			.		0.413	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107041065	G	A	107041065	2	1	31	1	0	0	0	0	0	0	0	1	13332	991	35	3		3	RGPD3	2	107041065	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	11421	107041065	136158308	390	5942											
ST6GAL2	84620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	107423334	107423334	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcgtggtagtggcacagctCcgtctgccgcacggatggga	15	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107423334C>A	ENST00000409382.3	-	6	2000	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.E464*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	464					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGCACAGCTCCGTCTGCCGC	0.522																																					p.E464X		.											.	ST6GAL2-191	0			c.G1390T						.						72	65	67					2																	107423334		2203	4300	6503	SO:0001587	stop_gained	84620	exon6			ACAGCTCCGTCTG	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1390G>T	2.37:g.107423334C>A	ENSP00000386942:p.Glu464*	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	157	68	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Nonsense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.237991|11.237991	0.99535|0.99535	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.087826|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75376	.|0.3841	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72757	.|-0.4197	.|4	0.42905|.	T|.	0.14|.	-35.5576|-35.5576	19.0512|19.0512	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	464|29	.|.	ENSP00000355273:E464X|.	E|G	-|-	1|2	0|0	ST6GAL2|ST6GAL2	106789766|106789766	1.000000|1.000000	0.71417|0.71417	0.758000|0.758000	0.31321|0.31321	0.896000|0.896000	0.52359|0.52359	7.738000|7.738000	0.84966|0.84966	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|GGA	.		0.522	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107423334	C	A	107423334	4	1	31	1	0	0	0	0	0	1	0	0	15269	864	30	3	203	3	ST6GAL2	2	107423334	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	382269	107423334	135776039	391	5943											
ST6GAL2	84620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	107459875	107459875	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcgccgtcgtcgccctcctCcaacacgtggctccttctct	8	19	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107459875C>A	ENST00000409382.3	-	2	1169	c.559G>T	c.(559-561)Gag>Tag	p.E187*	ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.E187*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.E187*|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	187					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCGCCCTCCTCCAACACGTGG	0.652																																					p.E187X		.											.	ST6GAL2-191	0			c.G559T						.						90	92	91					2																	107459875		2203	4300	6503	SO:0001587	stop_gained	84620	exon2			CCTCCTCCAACAC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.559G>T	2.37:g.107459875C>A	ENSP00000386942:p.Glu187*	Somatic	124	2		WXS	Illumina GAIIx	Phase_I	119	31	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Nonsense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	37	6.209080	0.97376	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	.	.	.	4.58	3.68	0.42216	.	0.626855	0.16993	N	0.191237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.8376	14.2271	0.65868	0.0:0.849:0.151:0.0	.	.	.	.	X	187	.	ENSP00000355273:E187X	E	-	1	0	ST6GAL2	106826307	0.004000	0.15560	0.006000	0.13384	0.929000	0.56500	1.223000	0.32527	1.201000	0.43203	0.561000	0.74099	GAG	.		0.652	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107459875	C	A	107459875	4	1	31	1	0	0	0	0	0	1	0	0	15269	864	30	3	1137	3	ST6GAL2	2	107459875	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	36541	107459875	135739498	392	5944											
RANBP2	5903	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	109384075	109384075	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attggtgatataaagattttAcagaattatgataataagca	7	2	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:109384075A>C	ENST00000283195.6	+	20	7206	c.7080A>C	c.(7078-7080)ttA>ttC	p.L2360F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2360	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAAGATTTTACAGAATTATG	0.338																																					p.L2360F		.											.	RANBP2-675	0			c.A7080C						.						45	51	49					2																	109384075		1954	3979	5933	SO:0001583	missense	5903	exon20			GATTTTACAGAAT	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.7080A>C	2.37:g.109384075A>C	ENSP00000283195:p.Leu2360Phe	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	217	72	NM_006267	0	0	0	0	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412236	0.42817	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55760	0.5	5.6	3.21	0.36854	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.77644	0.4161	H	0.94503	3.545	0.31028	N	0.717795	D	0.89917	1.0	D	0.97110	1.0	T	0.78221	-0.2288	9	0.87932	D	0	-19.8195	9.7534	0.40490	0.7956:0.0:0.2044:0.0	.	2360	P49792	RBP2_HUMAN	F	1384;2360	ENSP00000283195:L2360F	ENSP00000283195:L2360F	L	+	3	2	RANBP2	108750507	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.701000	0.25616	1.066000	0.40716	0.374000	0.22700	TTA	.		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109384075	A	C	109384075	3	2	31	1	0	0	0	0	1	0	0	0	13073	388	14	5	7158	5	RANBP2	2	109384075	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1924200	109384075	133815298	393	5945											
IL1F9	56300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	113736244	113736244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactccaggagacgctgatgGtggaggaagggccgtctatc	15	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:113736244G>T	ENST00000259205.4	+	2	98	c.29G>T	c.(28-30)gGt>gTt	p.G10V	IL36G_ENST00000376489.2_Missense_Mutation_p.G10V	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	10					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACGCTGATGGTGGAGGAAGG	0.517																																					p.G10V		.											.	IL36G-91	0			c.G29T						.						150	136	141					2																	113736244		2203	4300	6503	SO:0001583	missense	56300	exon2			CTGATGGTGGAGG	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.29G>T	2.37:g.113736244G>T	ENSP00000259205:p.Gly10Val	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	163	75	NM_019618	0	0	0	0	0	Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555155	0.13436	.	.	ENSG00000136688	ENST00000447128;ENST00000376489;ENST00000259205	T;T;T	0.57436	0.4;1.03;0.4	3.5	-7.01	0.01594	.	7.588360	0.00616	N	0.000422	T	0.26412	0.0645	N	0.08118	0	0.09310	N	0.999998	B;B	0.25169	0.119;0.072	B;B	0.19391	0.025;0.015	T	0.19778	-1.0295	10	0.29301	T	0.29	.	2.9746	0.05933	0.1399:0.2542:0.4045:0.2014	.	10;10	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	V	10	ENSP00000411639:G10V;ENSP00000365672:G10V;ENSP00000259205:G10V	ENSP00000259205:G10V	G	+	2	0	IL36G	113452715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.744000	0.01832	-3.814000	0.00103	-1.008000	0.02478	GGT	.		0.517	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		T	113736244	G	T	113736244	3	4	31	1	0	0	0	0	1	0	0	0	7684	1261	44	3	31	3	IL1F9	2	113736244	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4352169	113736244	129463129	394	5946											
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	116535388	116535388	+	Frame_Shift_Del	DEL	C	C	-													ttctgagcactgaatcttctCccagaggaaggcagctgtac							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:116535388delC	ENST00000410059.1	+	15	1819	c.1339delC	c.(1339-1341)cccfs	p.P447fs	DPP10_ENST00000393147.2_Frame_Shift_Del_p.P451fs|DPP10_ENST00000409163.1_Frame_Shift_Del_p.P397fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.P440fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	447						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAATCTTCTCCCAGAGGAAG	0.408																																					p.P451fs		.											.	DPP10-142	0			c.1351delC						.						153	136	142					2																	116535388		2203	4299	6502	SO:0001589	frameshift_variant	57628	exon15			TCTTCTCCCAGAG	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1339delC	2.37:g.116535388delC	ENSP00000386565:p.Pro447fs	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	106	44	NM_001178034	0	0	0	0	0	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Frame_Shift_Del	DEL	ENST00000410059.1	37	CCDS46400.1																																																																																			.		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		-	116535388	C	-	116535388	7	5	31	1	0	1	0	1	0	0	0	0	4741	855	30	0	1568	0	DPP10	2	116535388	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	2799144	116535388	126663985	395	5947											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125192069	125192069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgttcccagaatcagatGttgctgactttgatggccga	10	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125192069G>A	ENST00000431078.1	+	5	902	c.538G>A	c.(538-540)Gtt>Att	p.V180I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	180	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAATCAGATGTTGCTGACTT	0.418																																					p.V180I		.											.	CNTNAP5-524	0			c.G538A						.						120	108	112					2																	125192069		1909	4121	6030	SO:0001583	missense	129684	exon5			TCAGATGTTGCTG	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.538G>A	2.37:g.125192069G>A	ENSP00000399013:p.Val180Ile	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	71	28	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679299	0.47886	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.48	-0.836	0.10770	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.489617	0.16878	N	0.195816	T	0.80336	0.4604	M	0.89904	3.07	0.37798	D	0.92761	B	0.10296	0.003	B	0.09377	0.004	T	0.71286	-0.4638	10	0.26408	T	0.33	.	10.49	0.44746	0.5544:0.0:0.4456:0.0	.	180	Q8WYK1	CNTP5_HUMAN	I	180	ENSP00000399013:V180I	ENSP00000399013:V180I	V	+	1	0	CNTNAP5	124908539	0.973000	0.33851	0.001000	0.08648	0.357000	0.29423	1.722000	0.38042	-0.234000	0.09782	0.655000	0.94253	GTT	.		0.418	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125192069	G	A	125192069	3	1	31	1	0	0	0	0	1	0	0	0	3657	1377	48	3	556	3	CNTNAP5	2	125192069	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8656681	125192069	118007304	396	5948											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	125284869	125284869	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcccacagggtgcccCgacaatctcaccgattccca	7	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125284869C>A	ENST00000431078.1	+	10	1846	c.1482C>A	c.(1480-1482)ccC>ccA	p.P494P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	494	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGGGTGCCCCGACAATCTCA	0.448																																					p.P494P		.											.	CNTNAP5-524	0			c.C1482A						.						92	88	89					2																	125284869		1926	4134	6060	SO:0001819	synonymous_variant	129684	exon10			GTGCCCCGACAAT	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.1482C>A	2.37:g.125284869C>A		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	151	68	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125284869	C	A	125284869	2	1	31	1	0	0	0	0	0	0	0	1	3657	639	23	2		2	CNTNAP5	2	125284869	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	92800	125284869	117914504	397	5949											
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	125405388	125405388	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacagagctgacccgagtgCggggcgctaaccctgagaag	14	11	0	3	rs200795882		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125405388C>A	ENST00000431078.1	+	13	2291	c.1927C>A	c.(1927-1929)Cgg>Agg	p.R643R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	643	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		GACCCGAGTGCGGGGCGCTAA	0.562																																					p.R643R		.											.	CNTNAP5-524	0			c.C1927A						.						39	41	41					2																	125405388		2085	4208	6293	SO:0001819	synonymous_variant	129684	exon13			CGAGTGCGGGGCG	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.1927C>A	2.37:g.125405388C>A		Somatic	422	1		WXS	Illumina GAIIx	Phase_I	370	161	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.562	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125405388	C	A	125405388	2	1	31	1	0	0	0	0	0	0	0	1	3657	759	27	2		2	CNTNAP5	2	125405388	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	120519	125405388	117793985	398	5950											
MYO7B	4648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128367426	128367426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcttgtttccccaggcCgccctggtcatatggaacgt	10	13	3	0	rs202235279		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:128367426C>A	ENST00000409816.2	+	23	3059	c.3027C>A	c.(3025-3027)gcC>gcA	p.A1009A	MYO7B_ENST00000428314.1_Silent_p.A1009A|MYO7B_ENST00000389524.4_Silent_p.A1009A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1009	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCCCAGGCCGCCCTGGTCA	0.607																																					p.A1009A		.											.	MYO7B-47	0			c.C3027A						.						50	53	52					2																	128367426		2024	4192	6216	SO:0001819	synonymous_variant	4648	exon24			CCAGGCCGCCCTG		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3027C>A	2.37:g.128367426C>A		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	163	36	NM_001080527	0	0	0	0	0	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																			C|0.999;T|0.000		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128367426	C	A	128367426	2	1	31	1	0	0	0	0	0	0	0	1	10121	639	23	2		2	MYO7B	2	128367426	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2962038	128367426	114831947	399	5951											
UGGT1	56886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128890799	128890799	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacccacctttcctggtGttattcggcagatcaggaaa	9	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:128890799G>C	ENST00000259253.6	+	14	1509	c.1462G>C	c.(1462-1464)Gtt>Ctt	p.V488L	UGGT1_ENST00000375990.3_Missense_Mutation_p.V464L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	488					'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						CTTTCCTGGTGTTATTCGGCA	0.403																																					p.V488L		.											.	UGGT1-91	0			c.G1462C						.						174	169	170					2																	128890799		2203	4300	6503	SO:0001583	missense	56886	exon14			CCTGGTGTTATTC	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.1462G>C	2.37:g.128890799G>C	ENSP00000259253:p.Val488Leu	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	117	34	NM_020120	0	0	0	0	0	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869611	0.72065	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.02974	4.09;4.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	M	0.73598	2.24	0.80722	D	1	B;B	0.33413	0.411;0.404	B;B	0.33196	0.159;0.096	T	0.35475	-0.9787	10	0.26408	T	0.33	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	464;488	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	L	464;488	ENSP00000365158:V464L;ENSP00000259253:V488L	ENSP00000259253:V488L	V	+	1	0	UGGT1	128607269	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.333000	0.96459	2.611000	0.88343	0.655000	0.94253	GTT	.		0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		C	128890799	G	C	128890799	3	2	31	1	0	0	0	0	1	0	0	0	16990	1377	48	3	1516	3	UGGT1	2	128890799	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	523373	128890799	114308574	400	5952											
POTEF	728378	bcgsc.ca	37	chr2	130832803	130832803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacataggactctttctgatGcatgccccccatcatgccct	6	16	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130832803G>A	ENST00000409914.2	-	17	2641	c.2242C>T	c.(2242-2244)Cat>Tat	p.H748Y	POTEF_ENST00000357462.5_Missense_Mutation_p.H748Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	748	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTTCTGATGCATGCCCCCC	0.617																																					p.H748Y		.											.	POTEF-27	0			c.C2242T						.						30	30	30					2																	130832803		2201	4285	6486	SO:0001583	missense	728378	exon17			TCTGATGCATGCC	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.2242C>T	2.37:g.130832803G>A	ENSP00000386786:p.His748Tyr	Somatic	443	3		WXS	Illumina GAIIx	Phase_I	489	68	NM_001099771	0	0	0	0	0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990230	0.35131	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.89681	-2.55;-2.55	.	.	.	.	.	.	.	.	T	0.69459	0.3113	N	0.08118	0	0.80722	D	1	P	0.40909	0.732	B	0.30179	0.112	T	0.63633	-0.6593	8	0.72032	D	0.01	.	3.6382	0.08157	2.0E-4:0.4947:0.5049:2.0E-4	.	748	A5A3E0	POTEF_HUMAN	Y	748	ENSP00000350052:H748Y;ENSP00000386786:H748Y	ENSP00000350052:H748Y	H	-	1	0	POTEF	130549273	1.000000	0.71417	0.122000	0.21767	0.123000	0.20343	2.579000	0.46059	0.119000	0.18210	0.121000	0.15741	CAT	.		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130832803	G	A	130832803	3	1	31	1	0	0	0	0	1	0	0	0	12304	1319	46	3	989	3	POTEF	2	130832803	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1942004	130832803	112366570	401	5953											
CCDC74B	91409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	130898790	130898790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtgaagtaggggctcCtcttccaggtccgccttctg	12	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130898790C>A	ENST00000310463.6	-	4	761	c.624G>T	c.(622-624)gaG>gaT	p.E208D	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.E310D|CCDC74B_ENST00000409943.3_Missense_Mutation_p.E142D|CCDC74B_ENST00000409128.1_Missense_Mutation_p.E184D	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	208										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTAGGGGCTCCTCTTCCAGGT	0.602																																					p.E208D		.											.	CCDC74B-90	0			c.G624T						.						186	145	159					2																	130898790		2203	4300	6503	SO:0001583	missense	91409	exon4			GGGCTCCTCTTCC		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.624G>T	2.37:g.130898790C>A	ENSP00000308873:p.Glu208Asp	Somatic	349	0		WXS	Illumina GAIIx	Phase_I	353	111	NM_207310	0	0	0	0	0	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	0.904	-0.721405	0.03182	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128	T;T;T;T	0.62788	1.53;1.6;1.55;-0.0	1.77	1.77	0.24775	.	0.544550	0.14521	U	0.314463	T	0.67804	0.2932	M	0.62723	1.935	0.19300	N	0.999979	D;B;B	0.55605	0.972;0.022;0.003	P;B;B	0.59948	0.866;0.02;0.01	T	0.53975	-0.8362	10	0.30854	T	0.27	-25.0399	7.0297	0.24960	0.0:1.0:0.0:0.0	.	310;142;208	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	D	142;208;310;146;184	ENSP00000386294:E142D;ENSP00000308873:E208D;ENSP00000376710:E310D;ENSP00000386644:E184D	ENSP00000308873:E208D	E	-	3	2	CCDC74B	130615260	0.035000	0.19736	0.194000	0.23346	0.021000	0.10359	0.006000	0.13152	1.300000	0.44818	0.187000	0.17357	GAG	.		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		A	130898790	C	A	130898790	3	1	31	1	0	0	0	0	1	0	0	0	2855	680	24	3	538	3	CCDC74B	2	130898790	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	65987	130898790	112300583	402	5954											
SMPD4	55627	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	130911967	130911967	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgctggtggccagggtgaCaggaagctcccagtgaatgt	15	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130911967C>A	ENST00000409031.1	-	16	2807	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L	SMPD4_ENST00000453750.1_Silent_p.L302L|SMPD4_ENST00000431183.2_Silent_p.L451L|SMPD4_ENST00000339679.7_Silent_p.L411L|SMPD4_ENST00000443958.2_Silent_p.L217L|SMPD4_ENST00000452225.2_Silent_p.L294L|SMPD4_ENST00000426662.2_Silent_p.L189L|SMPD4_ENST00000351288.6_Silent_p.L524L|SMPD4_ENST00000473720.1_5'Flank	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	514					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCAGGGTGACAGGAAGCTCC	0.617																																					p.L553L		.											.	SMPD4-90	0			c.G1659T						.						23	24	24					2																	130911967		2195	4273	6468	SO:0001819	synonymous_variant	55627	exon16			GGGTGACAGGAAG	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1659G>T	2.37:g.130911967C>A		Somatic	607	1		WXS	Illumina GAIIx	Phase_I	583	82	NM_017951	0	0	0	0	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.530|4.530	0.098354|0.098354	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000430682	.|.	.|.	.|.	3.77|3.77	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.59742|0.59742	0.2216|0.2216	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57849|0.57849	-0.7740|-0.7740	4|4	.|.	.|.	.|.	.|.	10.2577|10.2577	0.43408|0.43408	0.1975:0.8025:0.0:0.0|0.1975:0.8025:0.0:0.0	.|.	.|.	.|.	.|.	F|F	428|235	.|.	.|.	C|V	-|-	2|1	0|0	SMPD4|SMPD4	130628437|130628437	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.438000|0.438000	0.31896|0.31896	0.652000|0.652000	0.24888|0.24888	1.623000|1.623000	0.50342|0.50342	0.305000|0.305000	0.20034|0.20034	TGT|GTC	.		0.617	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		A	130911967	C	A	130911967	2	1	31	1	0	0	0	0	0	0	0	1	14852	465	17	3		3	SMPD4	2	130911967	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13177	130911967	112287406	403	5955											
FAM123C	205147	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	131519737	131519737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgtggctgcagccaGggaggggacaggcccctggt	18	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:131519737G>T	ENST00000423981.1	+	2	202	c.92G>T	c.(91-93)aGg>aTg	p.R31M	AMER3_ENST00000321420.4_Missense_Mutation_p.R31M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	31					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCTGCAGCCAGGGAGGGGACA	0.622																																					p.R31M		.											.	.	0			c.G92T						.						16	22	20					2																	131519737		2200	4299	6499	SO:0001583	missense	205147	exon2			CAGCCAGGGAGGG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.92G>T	2.37:g.131519737G>T	ENSP00000392700:p.Arg31Met	Somatic	150	1		WXS	Illumina GAIIx	Phase_I	133	65	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088977	0.36855	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.50813	0.73;0.73	5.39	-4.5	0.03493	.	1.132030	0.06562	N	0.746890	T	0.23965	0.0580	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.15870	0.014	T	0.21449	-1.0245	10	0.72032	D	0.01	.	3.1454	0.06469	0.545:0.1344:0.1964:0.1243	.	31	Q8N944	F123C_HUMAN	M	31	ENSP00000314914:R31M;ENSP00000392700:R31M	ENSP00000314914:R31M	R	+	2	0	FAM123C	131236207	0.319000	0.24607	0.002000	0.10522	0.226000	0.24999	0.195000	0.17155	-0.747000	0.04759	0.561000	0.74099	AGG	.		0.622	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131519737	G	T	131519737	3	4	31	1	0	0	0	0	1	0	0	0	5443	1000	35	3	94	3	FAM123C	2	131519737	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	607770	131519737	111679636	404	5956											
ARHGEF4	50649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	131803668	131803668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccctgcccagcaaccGgccccagcagcaggtcctgg	11	20	0	0	rs138286451	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:131803668G>A	ENST00000326016.5	+	14	2498	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R162Q|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R589Q|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R600Q	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	660					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)		CCCAGCAACCGGCCCCAGCAG	0.667													G|||	7	0.00139776	0.003	0	5008	,	,		17455	0.003		0	False		,,,				2504	0				p.R660Q		.											.	ARHGEF4-292	0			c.G1979A						.	G	GLN/ARG,	9,4395	16.8+/-37.8	0,9,2193	37	45	42		1979,	0.9	0.9	2	dbSNP_134	42	0,8598		0,0,4299	yes	missense,utr-3	ARHGEF4	NM_015320.2,NM_032995.1	43,	0,9,6492	AA,AG,GG		0.0,0.2044,0.0692	probably-damaging,	660/691,	131803668	9,12993	2202	4299	6501	SO:0001583	missense	50649	exon14			GCAACCGGCCCCA	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.1979G>A	2.37:g.131803668G>A	ENSP00000316845:p.Arg660Gln	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	188	87	NM_015320	0	0	0	0	0	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	15.72	2.916472	0.52546	0.002044	0.0	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.47	0.872	0.19113	.	0.155525	0.43919	D	0.000503	T	0.11965	0.0291	N	0.22421	0.69	0.80722	D	1	P;B	0.42871	0.792;0.203	B;B	0.33568	0.166;0.015	T	0.05733	-1.0867	10	0.29301	T	0.29	.	6.6177	0.22786	0.0:0.1877:0.3664:0.4459	.	600;660	E9PEM0;Q9NR80	.;ARHG4_HUMAN	Q	660;342;162;600;589	ENSP00000316845:R660Q;ENSP00000389661:R342Q;ENSP00000398455:R162Q;ENSP00000387285:R600Q;ENSP00000348017:R589Q	ENSP00000316845:R660Q	R	+	2	0	ARHGEF4	131520138	1.000000	0.71417	0.936000	0.37596	0.901000	0.52897	3.972000	0.56838	-0.042000	0.13535	0.462000	0.41574	CGG	G|0.999;A|0.001		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			A	131803668	G	A	131803668	3	1	31	1	0	0	0	0	1	0	0	0	908	1116	39	1	2117	1	ARHGEF4	2	131803668	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	283931	131803668	111395705	405	5957											
POTEE	445582	bcgsc.ca	37	chr2	132021613	132021613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacggggtcacccacaCtgtgcccatctatgagggga	14	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:132021613C>A	ENST00000356920.5	+	15	2679	c.2585C>A	c.(2584-2586)aCt>aAt	p.T862N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	862	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTCACCCACACTGTGCCCATC	0.627																																					p.T862N		.											.	.	0			c.C2585A						.						47	47	47					2																	132021613		2171	4219	6390	SO:0001583	missense	445582	exon15			CCCACACTGTGCC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2585C>A	2.37:g.132021613C>A	ENSP00000439189:p.Thr862Asn	Somatic	424	2		WXS	Illumina GAIIx	Phase_I	425	162	NM_001083538	0	0	0	0	0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.775940	0.49786	.	.	ENSG00000188219	ENST00000356920	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.15392	0.0371	M	0.92219	3.285	0.80722	D	1	B	0.27166	0.17	B	0.26310	0.068	T	0.01767	-1.1278	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	862	Q6S8J3	POTEE_HUMAN	N	862	ENSP00000439189:T862N	ENSP00000439189:T862N	T	+	2	0	AC131180.1	131738083	1.000000	0.71417	0.128000	0.21923	0.130000	0.20726	3.645000	0.54389	0.119000	0.18210	0.121000	0.15741	ACT	.		0.627	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		A	132021613	C	A	132021613	3	1	31	1	0	0	0	0	1	0	0	0	12303	565	20	3	2643	3	POTEE	2	132021613	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	217945	132021613	111177760	406	5958											
GPR39	2863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	133174919	133174919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatcccctgaccacgTccagctacaccctgtcctgc	7	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:133174919T>A	ENST00000329321.3	+	1	773	c.304T>A	c.(304-306)Tcc>Acc	p.S102T		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGACCACGTCCAGCTACAC	0.557																																					p.S102T		.											.	GPR39-226	0			c.T304A						.						204	185	191					2																	133174919		2203	4300	6503	SO:0001583	missense	2863	exon1			ACCACGTCCAGCT	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.304T>A	2.37:g.133174919T>A	ENSP00000327417:p.Ser102Thr	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	161	73	NM_001508	0	0	0	0	0	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	T	2.344	-0.350425	0.05173	.	.	ENSG00000183840	ENST00000329321	T	0.42131	0.98	5.2	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.425905	0.25366	N	0.031199	T	0.15349	0.0370	N	0.02202	-0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.14252	T	0.57	.	7.6917	0.28571	0.1432:0.7057:0.0:0.1511	.	102	O43194	GPR39_HUMAN	T	102	ENSP00000327417:S102T	ENSP00000327417:S102T	S	+	1	0	GPR39	132891389	0.250000	0.23951	0.958000	0.39756	0.319000	0.28217	1.324000	0.33712	1.442000	0.47568	-0.251000	0.11542	TCC	.		0.557	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			A	133174919	T	A	133174919	3	1	31	1	0	0	0	0	1	0	0	0	6719	1667	58	5	306	5	GPR39	2	133174919	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1153306	133174919	110024454	407	5959											
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	134275043	134275043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttaccacaagactgctgtCtagagacagcctttttccaa	6	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:134275043C>G	ENST00000409261.1	-	3	428	c.55G>C	c.(55-57)Gac>Cac	p.D19H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.D19H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.D19H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D19H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	19										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGACTGCTGTCTAGAGACAGC	0.373																																					p.D19H		.											.	.	0			c.G55C						.						79	79	79					2																	134275043		1820	4054	5874	SO:0001583	missense	344148	exon3			TGCTGTCTAGAGA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.55G>C	2.37:g.134275043C>G	ENSP00000387128:p.Asp19His	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	71	13	NM_207481	0	0	0	0	0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.169888|2.169888	0.38315|0.38315	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000358991|ENST00000427594	T;T;T;T|.	0.55760|.	2.53;0.5;2.53;0.5|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|.	.|.	.|.	.|.	T|.	0.50446|.	0.1616|.	N|N	0.14661|0.14661	0.345|0.345	0.38084|0.38084	D|D	0.936778|0.936778	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.999;1.0|.	T|.	0.49844|.	-0.8896|.	9|.	0.87932|.	D|.	0|.	.|.	17.5151|17.5151	0.87771|0.87771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19;19;19|.	F5GYX5;O14513-2;O14513|.	.;.;NCKP5_HUMAN|.	H|Y	19|14	ENSP00000387128:D19H;ENSP00000386952:D19H;ENSP00000380603:D19H;ENSP00000385692:D19H|.	ENSP00000380603:D19H|.	D|X	-|-	1|3	0|2	NCKAP5|NCKAP5	133991513|133991513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.038000|5.038000	0.64177|0.64177	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GAC|TAG	.		0.373	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		G	134275043	C	G	134275043	3	3	31	1	0	0	0	0	1	0	0	0	10262	913	32	3	5746	3	NCKAP5	2	134275043	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1100124	134275043	108924330	408	5960											
YSK4	80122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	135738654	135738654	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacttaagcatgtcactgtgGgtgccatttaaacctgccca	9	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:135738654G>C	ENST00000375845.3	-	9	3687	c.3657C>G	c.(3655-3657)acC>acG	p.T1219T	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Silent_p.T351T|MAP3K19_ENST00000358371.4_Silent_p.T1106T|MAP3K19_ENST00000392918.3_Silent_p.T353T|MAP3K19_ENST00000375844.3_Silent_p.T401T|MAP3K19_ENST00000315513.3_Silent_p.T80T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGTCACTGTGGGTGCCATTTA	0.458																																					p.T1219T		.											.	.	0			c.C3657G						.						113	109	110					2																	135738654		2203	4300	6503	SO:0001819	synonymous_variant	80122	exon9			ACTGTGGGTGCCA	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3657C>G	2.37:g.135738654G>C		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	83	18	NM_025052	0	0	0	0	0	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	CCDS2176.2																																																																																			.		0.458	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		C	135738654	G	C	135738654	2	2	31	1	0	0	0	0	0	0	0	1	17544	1219	43	3		3	YSK4	2	135738654	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1463611	135738654	107460719	409	5961											
THSD7B	80731	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	137814534	137814534	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaagagcctgtgatgcTcccatttcctgtcctcttgg	10	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:137814534T>A	ENST00000409968.1	+	3	862	c.684T>A	c.(682-684)gcT>gcA	p.A228A	THSD7B_ENST00000413152.2_Silent_p.A197A|THSD7B_ENST00000543459.1_Silent_p.A87A|THSD7B_ENST00000272643.3_Silent_p.A228A			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	228	TSP type-1 3. {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)		CCTGTGATGCTCCCATTTCCT	0.458																																					.		.											.	THSD7B-75	0			.						.						177	172	173					2																	137814534		1899	4154	6053	SO:0001819	synonymous_variant	80731	.			TGATGCTCCCATT			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.684T>A	2.37:g.137814534T>A		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	134	23	.	0	0	0	0	0		Silent	SNP	ENST00000409968.1	37																																																																																				.		0.458	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	137814534	T	A	137814534	2	1	31	1	0	0	0	0	0	0	0	1	15927	1538	54	5		5	THSD7B	2	137814534	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2075880	137814534	105384839	410	5962											
THSD7B	80731	broad.mit.edu;bcgsc.ca	37	chr2	138400132	138400132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgccccacagagcttaccCaggagaaaacctgcccagtg	9	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:138400132C>A	ENST00000409968.1	+	21	4052	c.3874C>A	c.(3874-3876)Cag>Aag	p.Q1292K	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q1264K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q1295K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1294	TSP type-1 16. {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)		AGAGCTTACCCAGGAGAAAAC	0.502																																					.		.											.	THSD7B-75	0			.						.						98	101	100					2																	138400132		1909	4110	6019	SO:0001583	missense	80731	.			CTTACCCAGGAGA			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.3874C>A	2.37:g.138400132C>A	ENSP00000387145:p.Gln1292Lys	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	77	7	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197019	0.79015	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18502	2.21;2.21;2.21	5.33	5.33	0.75918	.	0.134244	0.56097	D	0.000023	T	0.34483	0.0899	M	0.67625	2.065	0.80722	D	1	P	0.49559	0.925	P	0.53722	0.733	T	0.01468	-1.1347	10	0.49607	T	0.09	.	17.9482	0.89045	0.0:1.0:0.0:0.0	.	1264	C9JKN6	.	K	1292;1295;1264	ENSP00000387145:Q1292K;ENSP00000272643:Q1295K;ENSP00000413841:Q1264K	ENSP00000272643:Q1295K	Q	+	1	0	THSD7B	138116602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.768000	0.95171	0.655000	0.94253	CAG	.		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138400132	C	A	138400132	3	1	31	1	0	0	0	0	1	0	0	0	15927	595	21	3	3864	3	THSD7B	2	138400132	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	585598	138400132	104799241	411	5963											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141055390	141055390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttacagtactgacatctGtctccggtgtattccggctg	9	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141055390G>T	ENST00000389484.3	-	84	13925	c.12954C>A	c.(12952-12954)gaC>gaA	p.D4318E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4318	EGF-like 19. {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)		ACTGACATCTGTCTCCGGTGT	0.438										TSP Lung(27;0.18)																											p.D4318E	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C12954A						.						172	178	176					2																	141055390		2203	4300	6503	SO:0001583	missense	53353	exon84			ACATCTGTCTCCG	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.12954C>A	2.37:g.141055390G>T	ENSP00000374135:p.Asp4318Glu	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	102	55	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735087|1.735087	0.30774|0.30774	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.89617|.	-2.54|.	6.08|6.08	5.2|5.2	0.72013|0.72013	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.125661|.	0.52532|.	D|.	0.000068|.	T|T	0.53045|0.53045	0.1772|0.1772	L|L	0.35341|0.35341	1.055|1.055	0.37262|0.37262	D|D	0.907011|0.907011	B|.	0.21606|.	0.058|.	B|.	0.20184|.	0.028|.	T|T	0.57039|0.57039	-0.7879|-0.7879	10|5	0.11485|.	T|.	0.65|.	.|.	11.3986|11.3986	0.49858|0.49858	0.1372:0.0:0.8628:0.0|0.1372:0.0:0.8628:0.0	.|.	4318|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	4318;4256|550;50	ENSP00000374135:D4318E|.	ENSP00000374135:D4318E|.	D|T	-|-	3|2	2|0	LRP1B|LRP1B	140771860|140771860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.012000|0.012000	0.07955|0.07955	3.303000|3.303000	0.51858|0.51858	1.595000|1.595000	0.50050|0.50050	-0.136000|-0.136000	0.14681|0.14681	GAC|ACA	.		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141055390	G	T	141055390	3	4	31	1	0	0	0	0	1	0	0	0	8990	1368	48	3	877	3	LRP1B	2	141055390	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2655258	141055390	102143983	412	5964											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141116494	141116494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatctgtgaggtctcGtggatggacaaagaaatttg	12	6	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141116494G>T	ENST00000389484.3	-	73	12124	c.11153C>A	c.(11152-11154)aCg>aAg	p.T3718K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3718	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGGTCTCGTGGATGGACA	0.373										TSP Lung(27;0.18)																											p.T3718K	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C11153A						.						107	100	102					2																	141116494		2203	4299	6502	SO:0001583	missense	53353	exon73			GGTCTCGTGGATG	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.11153C>A	2.37:g.141116494G>T	ENSP00000374135:p.Thr3718Lys	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	45	17	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184819	0.38609	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87412	-2.25	5.46	5.46	0.80206	.	0.068505	0.64402	U	0.000018	T	0.82010	0.4944	L	0.38649	1.16	0.47183	D	0.999348	P	0.43024	0.798	B	0.42087	0.375	T	0.79502	-0.1777	10	0.05721	T	0.95	.	18.8904	0.92399	0.0:0.0:1.0:0.0	.	3718	Q9NZR2	LRP1B_HUMAN	K	3718;3656	ENSP00000374135:T3718K	ENSP00000374135:T3718K	T	-	2	0	LRP1B	140832964	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.844000	0.75390	2.563000	0.86464	0.591000	0.81541	ACG	.		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141116494	G	T	141116494	3	4	31	1	0	0	0	0	1	0	0	0	8990	1145	40	2	2722	2	LRP1B	2	141116494	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	61104	141116494	102082879	413	5965											
LRP1B	53353	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	141128388	141128388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaccgaaactgatcttcCttacattcagtcacacagtc	5	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141128388C>T	ENST00000389484.3	-	71	11870	c.10899G>A	c.(10897-10899)aaG>aaA	p.K3633K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3633	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)			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)		ACTGATCTTCCTTACATTCAG	0.383										TSP Lung(27;0.18)																											p.K3633K	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.G10899A						.						160	145	150					2																	141128388		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon71			ATCTTCCTTACAT	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.10899G>A	2.37:g.141128388C>T		Somatic	83	1		WXS	Illumina GAIIx	Phase_I	83	33	NM_018557	0	0	0	0	0	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	141128388	C	T	141128388	2	4	31	1	0	0	0	0	0	0	0	1	8990	680	24	3		3	LRP1B	2	141128388	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11894	141128388	102070985	414	5966											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141245192	141245192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatatttagttaccttaatGtcacttccatttaaacacat	2	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141245192G>A	ENST00000389484.3	-	58	10208	c.9237C>T	c.(9235-9237)gaC>gaT	p.D3079D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3079					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)		TTACCTTAATGTCACTTCCAT	0.308										TSP Lung(27;0.18)																											p.D3079D	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C9237T						.						94	94	94					2																	141245192		2203	4295	6498	SO:0001819	synonymous_variant	53353	exon58			CTTAATGTCACTT	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.9237C>T	2.37:g.141245192G>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	54	15	NM_018557	0	0	0	0	0	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	141245192	G	A	141245192	2	1	31	1	0	0	0	0	0	0	0	1	8990	1368	48	3		3	LRP1B	2	141245192	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	116804	141245192	101954181	415	5967											
KIF5C	3800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	149837965	149837965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggatgaggtgaaagaaGttctccaggccctggaggag	15	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:149837965G>C	ENST00000435030.1	+	14	1827	c.1459G>C	c.(1459-1461)Gtt>Ctt	p.V487L	KIF5C_ENST00000414838.2_Missense_Mutation_p.V392L|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.V255L			O60282	KIF5C_HUMAN	kinesin family member 5C	487					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGTGAAAGAAGTTCTCCAGGC	0.512																																					p.V487L		.											.	KIF5C-69	0			c.G1459C						.						47	50	49					2																	149837965		2121	4274	6395	SO:0001583	missense	3800	exon14			AAAGAAGTTCTCC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1459G>C	2.37:g.149837965G>C	ENSP00000393379:p.Val487Leu	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	140	51	NM_004522	0	0	0	0	0	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.201225	0.94997	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83335	-1.71;-1.71;-1.71	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	.	.	.	0.80722	D	1	P;D	0.89917	0.877;1.0	P;D	0.91635	0.728;0.999	D	0.83781	0.0225	9	0.12766	T	0.61	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	487;53	O60282;Q3LIE3	KIF5C_HUMAN;.	L	487;392;390;255	ENSP00000393379:V487L;ENSP00000410115:V392L;ENSP00000380560:V255L	ENSP00000334176:V390L	V	+	1	0	KIF5C	149546211	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	GTT	.		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		C	149837965	G	C	149837965	3	2	31	1	0	0	0	0	1	0	0	0	8334	1029	36	3	1435	3	KIF5C	2	149837965	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8592773	149837965	93361408	416	5968											
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152320981	152320981	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgatttaccaaatgtGtgtgaggaaaaaaatgaaac	9	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152320981G>T	ENST00000243326.5	+	29	5430	c.4947G>T	c.(4945-4947)gtG>gtT	p.V1649V	RIF1_ENST00000444746.2_Silent_p.V1649V|RIF1_ENST00000453091.2_Silent_p.V1649V|RIF1_ENST00000430328.2_Silent_p.V1649V|RIF1_ENST00000428287.2_Silent_p.V1649V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TACCAAATGTGTGTGAGGAAA	0.343																																					p.V1649V		.											.	RIF1-300	0			c.G4947T						.						47	49	49					2																	152320981		2202	4299	6501	SO:0001819	synonymous_variant	55183	exon30			AAATGTGTGTGAG	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4947G>T	2.37:g.152320981G>T		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	78	21	NM_018151	0	0	0	0	0	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																			.		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			T	152320981	G	T	152320981	2	4	31	1	0	0	0	0	0	0	0	1	13404	1364	48	3		3	RIF1	2	152320981	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2483016	152320981	90878392	417	5969											
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152321633	152321633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgttggcccgtgtttaGgagactcgaaaaatgtttca	10	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152321633G>A	ENST00000243326.5	+	29	6082	c.5599G>A	c.(5599-5601)Gga>Aga	p.G1867R	RIF1_ENST00000444746.2_Missense_Mutation_p.G1867R|RIF1_ENST00000453091.2_Missense_Mutation_p.G1867R|RIF1_ENST00000430328.2_Missense_Mutation_p.G1867R|RIF1_ENST00000428287.2_Missense_Mutation_p.G1867R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCCGTGTTTAGGAGACTCGAA	0.373																																					p.G1867R		.											.	RIF1-300	0			c.G5599A						.						56	62	60					2																	152321633		2203	4300	6503	SO:0001583	missense	55183	exon30			TGTTTAGGAGACT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5599G>A	2.37:g.152321633G>A	ENSP00000243326:p.Gly1867Arg	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	47	15	NM_018151	0	0	0	0	0	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131636	0.56828	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.09	-0.35	0.12606	.	2.560490	0.00760	N	0.001125	T	0.08582	0.0213	N	0.14661	0.345	0.09310	N	0.999996	P;P	0.45474	0.779;0.859	B;P	0.45712	0.296;0.491	T	0.09143	-1.0688	10	0.46703	T	0.11	1.176	2.3963	0.04390	0.2391:0.1911:0.4551:0.1147	.	1867;1867	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	1867	ENSP00000390181:G1867R;ENSP00000414615:G1867R;ENSP00000415691:G1867R;ENSP00000243326:G1867R;ENSP00000416123:G1867R	ENSP00000243326:G1867R	G	+	1	0	RIF1	152029879	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.336000	0.19823	0.060000	0.16281	0.650000	0.86243	GGA	.		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			A	152321633	G	A	152321633	3	1	31	1	0	0	0	0	1	0	0	0	13404	1001	35	3	5713	3	RIF1	2	152321633	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	652	152321633	90877740	418	5970											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152521284	152521284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacttacatcactcatggTgatttggtttactctggaga	8	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152521284T>C	ENST00000172853.10	-	43	5479	c.5332A>G	c.(5332-5334)Acc>Gcc	p.T1778A	NEB_ENST00000603639.1_Missense_Mutation_p.T1778A|NEB_ENST00000604864.1_Missense_Mutation_p.T1778A|NEB_ENST00000397345.3_Missense_Mutation_p.T1778A|NEB_ENST00000427231.2_Missense_Mutation_p.T1778A|NEB_ENST00000409198.1_Missense_Mutation_p.T1778A			P20929	NEBU_HUMAN	nebulin	1778					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)		TCACTCATGGTGATTTGGTTT	0.418																																					p.T1778A		.											.	NEB-145	0			c.A5332G						.						115	101	105					2																	152521284		1892	4121	6013	SO:0001583	missense	4703	exon43			TCATGGTGATTTG	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.5332A>G	2.37:g.152521284T>C	ENSP00000172853:p.Thr1778Ala	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	163	76	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	10.46	1.355896	0.24598	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.78	5.78	0.91487	.	0.048479	0.85682	D	0.000000	T	0.42200	0.1192	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.39339	0.297	T	0.23940	-1.0174	10	0.16420	T	0.52	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1778	P20929	NEBU_HUMAN	A	1778	ENSP00000386259:T1778A;ENSP00000380505:T1778A;ENSP00000416578:T1778A;ENSP00000172853:T1778A	ENSP00000172853:T1778A	T	-	1	0	NEB	152229530	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.978000	0.88095	2.333000	0.79357	0.533000	0.62120	ACC	.		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152521284	T	C	152521284	3	2	31	1	0	0	0	0	1	0	0	0	10341	1696	59	4	20914	4	NEB	2	152521284	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	199651	152521284	90678089	419	5971											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152537258	152537258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttacatcactcctctgggCctggttaattttagactgta	7	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152537258C>A	ENST00000172853.10	-	30	3175	c.3028G>T	c.(3028-3030)Gcc>Tcc	p.A1010S	NEB_ENST00000603639.1_Missense_Mutation_p.A1010S|NEB_ENST00000604864.1_Missense_Mutation_p.A1010S|NEB_ENST00000397345.3_Missense_Mutation_p.A1010S|NEB_ENST00000427231.2_Missense_Mutation_p.A1010S|NEB_ENST00000409198.1_Missense_Mutation_p.A1010S			P20929	NEBU_HUMAN	nebulin	1010					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)		CTCCTCTGGGCCTGGTTAATT	0.343																																					p.A1010S		.											.	NEB-145	0			c.G3028T						.						210	199	202					2																	152537258		1872	4100	5972	SO:0001583	missense	4703	exon30			TCTGGGCCTGGTT	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.3028G>T	2.37:g.152537258C>A	ENSP00000172853:p.Ala1010Ser	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	151	54	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	14.05	2.419298	0.42918	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.44;3.44;3.43	5.82	5.82	0.92795	.	0.301359	0.34628	N	0.003814	T	0.04497	0.0123	N	0.14661	0.345	0.80722	D	1	P	0.38370	0.628	B	0.39339	0.297	T	0.54050	-0.8351	10	0.10636	T	0.68	.	12.2291	0.54478	0.0:0.9216:0.0:0.0784	.	1010	P20929	NEBU_HUMAN	S	1010	ENSP00000386259:A1010S;ENSP00000380505:A1010S;ENSP00000416578:A1010S;ENSP00000172853:A1010S	ENSP00000172853:A1010S	A	-	1	0	NEB	152245504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.218000	0.42889	2.764000	0.94973	0.650000	0.86243	GCC	.		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152537258	C	A	152537258	3	1	31	1	0	0	0	0	1	0	0	0	10341	739	26	3	23270	3	NEB	2	152537258	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	15974	152537258	90662115	420	5972											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152563490	152563490	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcttttcctttattcttttCatagtcttctttgtatttta	3	7	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152563490C>A	ENST00000172853.10	-	13	1204	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	NEB_ENST00000603639.1_Nonsense_Mutation_p.E353*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E353*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E353*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E353*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E353*			P20929	NEBU_HUMAN	nebulin	353					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)		TTATTCTTTTCATAGTCTTCT	0.383																																					p.E353X		.											.	NEB-145	0			c.G1057T						.						84	81	82					2																	152563490		1826	4079	5905	SO:0001587	stop_gained	4703	exon13			TCTTTTCATAGTC	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.1057G>T	2.37:g.152563490C>A	ENSP00000172853:p.Glu353*	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	38	11	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	41	8.716914	0.98927	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9416	0.97165	0.0:1.0:0.0:0.0	.	.	.	.	X	353;353;353;353;79	.	ENSP00000172853:E353X	E	-	1	0	NEB	152271736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.587000	0.74071	2.798000	0.96311	0.655000	0.94253	GAA	.		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152563490	C	A	152563490	4	1	31	1	0	0	0	0	0	1	0	0	10341	835	29	3	25309	3	NEB	2	152563490	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	26232	152563490	90635883	421	5973											
CACNB4	785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152727077	152727077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacggccccactaacaCcaccggacgcattgacggta	10	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152727077C>A	ENST00000539935.1	-	8	734	c.667G>T	c.(667-669)Gtg>Ttg	p.V223L	CACNB4_ENST00000201943.5_Missense_Mutation_p.V223L|CACNB4_ENST00000397327.2_Missense_Mutation_p.V176L|CACNB4_ENST00000534999.1_Missense_Mutation_p.V189L|CACNB4_ENST00000360283.6_Missense_Mutation_p.V190L|CACNB4_ENST00000427385.1_Missense_Mutation_p.V205L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	223					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACTAACACCACCGGACGC	0.498																																					p.V223L		.											.	CACNB4-24	0			c.G667T						.						89	89	89					2																	152727077		2096	4216	6312	SO:0001583	missense	785	exon8			CTAACACCACCGG	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.667G>T	2.37:g.152727077C>A	ENSP00000438949:p.Val223Leu	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	333	100	NM_001145798	0	0	0	0	0	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727665	0.96847	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.91	5.91	0.95273	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.90870	3.155	0.80722	D	1	P;D;P;D;P	0.89917	0.915;1.0;0.932;0.994;0.917	D;D;D;D;P	0.81914	0.92;0.995;0.941;0.984;0.903	D	0.83429	0.0037	10	0.87932	D	0	-15.6787	20.2983	0.98569	0.0:1.0:0.0:0.0	.	223;189;223;205;189	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	L	223;190;180;218;189;176;205;223;224	ENSP00000438949:V223L;ENSP00000353425:V190L;ENSP00000390161:V218L;ENSP00000443893:V189L;ENSP00000380490:V176L;ENSP00000410978:V205L;ENSP00000201943:V223L	ENSP00000201943:V223L	V	-	1	0	CACNB4	152435323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.802000	0.96397	0.655000	0.94253	GTG	.		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		A	152727077	C	A	152727077	3	1	31	1	0	0	0	0	1	0	0	0	2562	507	18	3	923	3	CACNB4	2	152727077	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	163587	152727077	90472296	422	5974											
RPRM	56475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	154334873	154334873	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaagatgccgaagacCacggtgagtgagagcacgca	15	8	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:154334873C>A	ENST00000325926.3	-	1	449	c.207G>T	c.(205-207)gtG>gtT	p.V69V	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	69					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						TGCCGAAGACCACGGTGAGTG	0.607																																					p.V69V		.											.	RPRM-204	0			c.G207T						.						121	88	99					2																	154334873		2203	4300	6503	SO:0001819	synonymous_variant	56475	exon1			GAAGACCACGGTG	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"candidate mediator of the p53 dependent G2 arrest", "REPRIMO"	612171	"reprimo, TP53 dependant G2 arrest mediator candidate"			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.207G>T	2.37:g.154334873C>A		Somatic	268	0		WXS	Illumina GAIIx	Phase_I	447	163	NM_019845	0	0	0	0	0	B2R4V1	Silent	SNP	ENST00000325926.3	37	CCDS2198.1																																																																																			.		0.607	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845		A	154334873	C	A	154334873	2	1	31	1	0	0	0	0	0	0	0	1	13663	581	21	3		3	RPRM	2	154334873	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1607796	154334873	88864500	423	5975											
GALNT13	114805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	154996920	154996920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgattcctaaagatgaccaGgagaaaatgaaagagctgtt	10	5	0	6	rs114793552		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:154996920G>A	ENST00000392825.3	+	4	780	c.213G>A	c.(211-213)caG>caA	p.Q71Q	GALNT13_ENST00000409237.1_Silent_p.Q71Q	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	71					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)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGATGACCAGGAGAAAATGA	0.383																																					p.Q71Q		.											.	GALNT13-95	0			c.G213A						.	G		0,4406		0,0,2203	120	121	120		213	-1.1	1	2	dbSNP_132	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GALNT13	NM_052917.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		71/557	154996920	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114805	exon4			TGACCAGGAGAAA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.213G>A	2.37:g.154996920G>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	147	53	NM_052917	0	0	0	0	0	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	CCDS2199.1																																																																																			G|1.000;A|0.000		0.383	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		A	154996920	G	A	154996920	2	1	31	1	0	0	0	0	0	0	0	1	6236	991	35	3		3	GALNT13	2	154996920	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	662047	154996920	88202453	424	5976											
BAZ2B	29994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	160205740	160205740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatattagaagtaaccacacCagtgggccatccacaaaact	6	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:160205740C>G	ENST00000392783.2	-	29	5410	c.4915G>C	c.(4915-4917)Ggt>Cgt	p.G1639R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1603R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1539R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1605R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTAACCACACCAGTGGGCCAT	0.373																																					p.G1639R		.											.	BAZ2B-94	0			c.G4915C						.						83	80	81					2																	160205740		1858	4090	5948	SO:0001583	missense	29994	exon29			CCACACCAGTGGG	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4915G>C	2.37:g.160205740C>G	ENSP00000376534:p.Gly1639Arg	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	50	21	NM_013450	0	0	0	0	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817018	0.16607	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.62788	-0.0;0.05;-0.0;0.04	5.47	1.72	0.24424	.	0.000000	0.37053	U	0.002267	T	0.68833	0.3044	M	0.62723	1.935	0.40667	D	0.982185	P;D	0.71674	0.835;0.998	P;D	0.63488	0.531;0.915	T	0.66176	-0.5989	10	0.56958	D	0.05	-3.3686	6.2168	0.20659	0.0:0.6087:0.1216:0.2697	.	1603;1639	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1603;1639;1605;1539	ENSP00000376533:G1603R;ENSP00000376534:G1639R;ENSP00000348087:G1605R;ENSP00000339670:G1539R	ENSP00000339670:G1539R	G	-	1	0	BAZ2B	159913986	1.000000	0.71417	0.860000	0.33809	0.949000	0.60115	1.223000	0.32527	0.107000	0.17824	-0.216000	0.12614	GGT	.		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			G	160205740	C	G	160205740	3	3	31	1	0	0	0	0	1	0	0	0	1333	594	21	3	1627	3	BAZ2B	2	160205740	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5208820	160205740	82993633	425	5977											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	162820704	162820704	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaccagattttatataCctaaggcacgtaccgcttcg	6	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:162820704C>A	ENST00000446997.1	+	22	3015	c.2922C>A	c.(2920-2922)taC>taA	p.Y974*	SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.Y944*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.Y955*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.Y944*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.Y974*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	974					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)	ATTTTATATACCTAAGGCACG	0.368																																					p.Y974X		.											.	SLC4A10-229	0			c.C2922A						.						86	76	79					2																	162820704		1840	4092	5932	SO:0001587	stop_gained	57282	exon22			TATATACCTAAGG		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.2922C>A	2.37:g.162820704C>A	ENSP00000393066:p.Tyr974*	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	76	24	NM_001178015	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	38	6.973113	0.97975	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.13	-0.163	0.13363	.	0.069567	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6774	0.45794	0.0:0.5977:0.0:0.4023	.	.	.	.	X	955;944;944;943;974;974;973	.	ENSP00000272716:Y944X	Y	+	3	2	SLC4A10	162528950	0.930000	0.31532	0.999000	0.59377	0.990000	0.78478	0.049000	0.14099	0.066000	0.16515	-0.302000	0.09304	TAC	.		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162820704	C	A	162820704	4	1	31	1	0	0	0	0	0	1	0	0	14696	518	18	3	3093	3	SLC4A10	2	162820704	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2614964	162820704	80378669	426	5978											
FAP	2191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	163059625	163059625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgtagtacgaaatggcatCatagctgaaaactggtgttg	11	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:163059625C>T	ENST00000188790.4	-	13	1285	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	FAP_ENST00000443424.1_Missense_Mutation_p.D335N	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAATGGCATCATAGCTGAAA	0.323																																					p.D360N		.											.	FAP-93	0			c.G1078A						.						71	68	69					2																	163059625		2203	4299	6502	SO:0001583	missense	2191	exon13			TGGCATCATAGCT	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1078G>A	2.37:g.163059625C>T	ENSP00000188790:p.Asp360Asn	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	95	29	NM_004460	0	0	0	0	0		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351982	0.82132	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.97850	-4.57;0.87	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	L	0.38953	1.18	0.80722	D	1	B;B	0.25351	0.124;0.021	B;B	0.36922	0.236;0.033	D	0.93669	0.6988	10	0.34782	T	0.22	-11.7235	20.3011	0.98612	0.0:1.0:0.0:0.0	.	335;360	B4DLR2;Q12884	.;SEPR_HUMAN	N	360;335	ENSP00000188790:D360N;ENSP00000411391:D335N	ENSP00000188790:D360N	D	-	1	0	FAP	162767871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.557000	0.67313	2.804000	0.96469	0.650000	0.86243	GAT	.		0.323	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			T	163059625	C	T	163059625	3	4	31	1	0	0	0	0	1	0	0	0	5695	826	29	3	1260	3	FAP	2	163059625	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	238921	163059625	80139748	427	5979											
GRB14	2888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	165353720	165353721	+	Splice_Site	DNP	CC	CC	AA													aatgactatgaacagacataCccatgtttgtggcagagctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C|	C|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:165353720_165353721CC>AA	ENST00000263915.3	-	11	1832_1833	c.1294_1295GG>TT	c.(1294-1296)GGt>TTt	p.G432F	GRB14_ENST00000543549.1_Splice_Site_p.G345F|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	432					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						AACAGACATACCCATGTTTGTG	0.45																																					.|p.A432S		.											.	GRB14-420	0			c.1294+1G>T|c.G1294T						.																																			SO:0001630	splice_region_variant	2888	exon12|exon11			GACATACCCATGT|ACATACCCATGTT		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.1294_1295delinsAA	2.37:g.165353720_165353721delinsAA		Somatic	161|163	0|1		WXS	Illumina GAIIx	Phase_I	172	56	NM_004490	0	0	0	0	0	B7Z7F9|Q7Z6I1	Splice_Site|Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1																																																																																			.		0.45	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		Missense_Mutation	AA	165353721	CC	AA	165353720	5	1	31	1	0	0	0	0	0	0	1	0	6784	521	18	3	343	3	GRB14	2	165353720	Splice_Site	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	2294095	165353720	77845653	428	5980											
SCN3A	6328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	165947786	165947786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggattcggccaatcctgGcaagacggatcactcggaac	12	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:165947786G>T	ENST00000360093.3	-	28	5368	c.4877C>A	c.(4876-4878)gCc>gAc	p.A1626D	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.A109D|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1626D|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1577D|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1626					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCAATCCTGGCAAGACGGAT	0.468																																					p.A1626D		.											.	SCN3A-141	0			c.C4877A						.						112	114	113					2																	165947786		2203	4300	6503	SO:0001583	missense	6328	exon28			ATCCTGGCAAGAC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4877C>A	2.37:g.165947786G>T	ENSP00000353206:p.Ala1626Asp	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	240	72	NM_006922	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.215766	0.79352	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000006	D	0.99420	0.9795	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.984	D	0.98492	1.0610	10	0.87932	D	0	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1577;1577;1626	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	1626;1626;1577;109	ENSP00000353206:A1626D;ENSP00000283254:A1626D;ENSP00000386726:A1577D;ENSP00000439920:A109D	ENSP00000283254:A1626D	A	-	2	0	SCN3A	165656032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.890000	0.99128	0.585000	0.79938	GCC	.		0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165947786	G	T	165947786	3	4	31	1	0	0	0	0	1	0	0	0	13963	1203	42	3	1129	3	SCN3A	2	165947786	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	594066	165947786	77251587	429	5981											
SCN3A	6328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166032795	166032795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattatcttgttcctttttgGgcttcttggctttctcttct	6	10	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166032795G>T	ENST00000360093.3	-	3	601	c.110C>A	c.(109-111)cCc>cAc	p.P37H	SCN3A_ENST00000283254.7_Missense_Mutation_p.P37H|SCN3A_ENST00000409101.3_Missense_Mutation_p.P37H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	37					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTTTTTGGGCTTCTTGGC	0.433																																					p.P37H		.											.	SCN3A-141	0			c.C110A						.						225	214	218					2																	166032795		2203	4300	6503	SO:0001583	missense	6328	exon3			TTTTTGGGCTTCT	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.110C>A	2.37:g.166032795G>T	ENSP00000353206:p.Pro37His	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	113	44	NM_001081676	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	17.92	3.505735	0.64410	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.96041	-3.89;-3.89;-3.85;-3.72;8.11	5.32	5.32	0.75619	.	0.104418	0.42964	D	0.000635	D	0.95692	0.8599	M	0.71296	2.17	0.80722	D	1	P;P;P	0.46457	0.656;0.656;0.878	B;B;P	0.45377	0.388;0.388;0.478	D	0.95964	0.8964	10	0.62326	D	0.03	.	19.3619	0.94442	0.0:0.0:1.0:0.0	.	37;37;37	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	37	ENSP00000353206:P37H;ENSP00000283254:P37H;ENSP00000386726:P37H;ENSP00000403348:P37H;ENSP00000391569:P37H	ENSP00000283254:P37H	P	-	2	0	SCN3A	165741041	1.000000	0.71417	0.994000	0.49952	0.330000	0.28571	7.965000	0.87945	2.657000	0.90304	0.467000	0.42956	CCC	.		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	166032795	G	T	166032795	3	4	31	1	0	0	0	0	1	0	0	0	13963	1232	43	3	6092	3	SCN3A	2	166032795	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	85009	166032795	77166578	430	5982											
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	166198817	166198817	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatttaggtcttcacaggGatcttcacagcagaaatgtt	8	9	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166198817G>A	ENST00000375437.2	+	15	2690	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	SCN2A_ENST00000357398.3_Silent_p.G800G|SCN2A_ENST00000375427.2_Silent_p.G800G|SCN2A_ENST00000283256.6_Silent_p.G800G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	800					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)	TCTTCACAGGGATCTTCACAG	0.323																																					p.G800G		.											.	SCN2A-142	0			c.G2400A						.						114	115	115					2																	166198817		2203	4300	6503	SO:0001819	synonymous_variant	6326	exon14			CACAGGGATCTTC	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.2400G>A	2.37:g.166198817G>A		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	82	14	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166198817	G	A	166198817	2	1	31	1	0	0	0	0	0	0	0	1	13961	1161	41	3		3	SCN2A	2	166198817	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	166022	166198817	77000556	431	5983											
SCN2A	6326	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	166198894	166198894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaggctggaatatttTtgatggttttattgtgagcc	11	4	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166198894T>C	ENST00000375437.2	+	15	2767	c.2477T>C	c.(2476-2478)tTt>tCt	p.F826S	SCN2A_ENST00000357398.3_Missense_Mutation_p.F826S|SCN2A_ENST00000375427.2_Missense_Mutation_p.F826S|SCN2A_ENST00000283256.6_Missense_Mutation_p.F826S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	826					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)	TGGAATATTTTTGATGGTTTT	0.383																																					p.F826S		.											.	SCN2A-142	0			c.T2477C						.						153	159	157					2																	166198894		2203	4300	6503	SO:0001583	missense	6326	exon14			ATATTTTTGATGG	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.2477T>C	2.37:g.166198894T>C	ENSP00000364586:p.Phe826Ser	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	136	44	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019991	0.93462	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99569	0.9845	H	0.99404	4.55	0.80722	D	1	D;P	0.76494	0.999;0.815	D;P	0.72982	0.979;0.733	D	0.97543	1.0087	10	0.87932	D	0	.	15.766	0.78126	0.0:0.0:0.0:1.0	.	826;826	Q99250-2;Q99250	.;SCN2A_HUMAN	S	826	ENSP00000364586:F826S;ENSP00000349973:F826S;ENSP00000283256:F826S;ENSP00000364576:F826S	ENSP00000283256:F826S	F	+	2	0	SCN2A	165907140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.126000	0.65437	0.523000	0.50628	TTT	.		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		C	166198894	T	C	166198894	3	2	31	1	0	0	0	0	1	0	0	0	13961	1841	64	4	2627	4	SCN2A	2	166198894	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	77	166198894	77000479	432	5984											
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166535679	166535679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgatgatgacaaaggagatGgcttcgtggaaggtttgggc	16	5	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166535679G>T	ENST00000342316.4	+	5	1446	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C	CSRNP3_ENST00000409420.1_Missense_Mutation_p.G424C|CSRNP3_ENST00000314499.7_Missense_Mutation_p.G392C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	392					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAAAGGAGATGGCTTCGTGGA	0.512																																					p.G392C		.											.	CSRNP3-157	0			c.G1174T						.						124	114	117					2																	166535679		2203	4300	6503	SO:0001583	missense	80034	exon7			GGAGATGGCTTCG	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1174G>T	2.37:g.166535679G>T	ENSP00000344042:p.Gly392Cys	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	73	28	NM_001172173	0	0	0	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562656	0.27915	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.79	-4.78	0.03209	.	0.547765	0.21435	N	0.074593	T	0.22044	0.0531	N	0.14661	0.345	0.20489	N	0.999891	P	0.38617	0.64	B	0.33254	0.16	T	0.28170	-1.0052	10	0.66056	D	0.02	-2.911	9.502	0.39024	0.1763:0.274:0.5496:0.0	.	392	Q8WYN3	CSRN3_HUMAN	C	392;399;392;392;424	ENSP00000412081:G392C;ENSP00000318258:G392C;ENSP00000344042:G392C;ENSP00000387195:G424C	ENSP00000318258:G392C	G	+	1	0	CSRNP3	166243925	1.000000	0.71417	0.979000	0.43373	0.871000	0.50021	2.621000	0.46418	-0.347000	0.08299	-0.290000	0.09829	GGC	.		0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		T	166535679	G	T	166535679	3	4	31	1	0	0	0	0	1	0	0	0	3974	1348	47	3	1188	3	CSRNP3	2	166535679	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	336785	166535679	76663694	433	5985											
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166535970	166535970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagcagaagaggcctatGgtgcctcccactacccagct	10	14	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166535970G>A	ENST00000342316.4	+	5	1737	c.1465G>A	c.(1465-1467)Ggt>Agt	p.G489S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.G521S|CSRNP3_ENST00000314499.7_Missense_Mutation_p.G489S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	489					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAGGCCTATGGTGCCTCCCA	0.507																																					p.G489S		.											.	CSRNP3-157	0			c.G1465A						.						82	71	75					2																	166535970		2203	4300	6503	SO:0001583	missense	80034	exon7			GCCTATGGTGCCT	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1465G>A	2.37:g.166535970G>A	ENSP00000344042:p.Gly489Ser	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	255	81	NM_001172173	0	0	0	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982049	0.18812	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.41758	0.99;0.99;0.99	5.88	4.1	0.47936	.	0.243172	0.41605	D	0.000841	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.16364	-1.0405	9	.	.	.	-10.7231	5.6358	0.17536	0.2216:0.0:0.6387:0.1397	.	489	Q8WYN3	CSRN3_HUMAN	S	489;489;521	ENSP00000318258:G489S;ENSP00000344042:G489S;ENSP00000387195:G521S	.	G	+	1	0	CSRNP3	166244216	0.150000	0.22732	0.423000	0.26634	0.984000	0.73092	0.576000	0.23744	0.832000	0.34804	0.655000	0.94253	GGT	.		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		A	166535970	G	A	166535970	3	1	31	1	0	0	0	0	1	0	0	0	3974	1348	47	3	1479	3	CSRNP3	2	166535970	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	291	166535970	76663403	434	5986											
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	166626967	166626967	+	Frame_Shift_Del	DEL	T	T	-													ttgcctgacaggtgctcctaTttgcatttttggcatggcat							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166626967delT	ENST00000392701.3	-	2	1019	c.244delA	c.(244-246)atafs	p.I82fs		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	82					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GGTGCTCCTATTTGCATTTTT	0.408																																					p.I82X		.											.	GALNT3-92	0			c.244delA						.						140	121	128					2																	166626967		2203	4300	6503	SO:0001589	frameshift_variant	2591	exon2			CTCCTATTTGCAT		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.244delA	2.37:g.166626967delT	ENSP00000376465:p.Ile82fs	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	137	36	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Nonsense_Mutation	DEL	ENST00000392701.3	37	CCDS2226.1																																																																																			.		0.408	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		-	166626967	T	-	166626967	7	5	31	1	0	1	0	1	0	0	0	0	6239	1493	52	0	1697	0	GALNT3	2	166626967	Frame_Shift_Del	DEL	T	TCGA-OR-A5KB-01A-11D-A30A-10	90997	166626967	76572406	435	5987											
TTC21B	79809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166781171	166781171	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagtggacaaagaggTtgcccaggacttgcaggcta	14	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166781171T>A	ENST00000243344.7	-	12	1541	c.1404A>T	c.(1402-1404)caA>caT	p.Q468H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	468					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GACAAAGAGGTTGCCCAGGAC	0.353																																					p.Q468H		.											.	TTC21B-94	0			c.A1404T						.						51	51	51					2																	166781171		2203	4300	6503	SO:0001583	missense	79809	exon12			AAGAGGTTGCCCA	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1404A>T	2.37:g.166781171T>A	ENSP00000243344:p.Gln468His	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	132	56	NM_024753	0	0	0	0	0	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751953	0.69533	.	.	ENSG00000123607	ENST00000243344	T	0.61627	0.09	5.76	-6.06	0.02165	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.76683	-0.2869	10	0.54805	T	0.06	-9.4494	19.653	0.95825	0.0:0.7896:0.0:0.2104	.	468	Q7Z4L5	TT21B_HUMAN	H	468	ENSP00000243344:Q468H	ENSP00000243344:Q468H	Q	-	3	2	TTC21B	166489417	0.151000	0.22747	0.890000	0.34922	0.734000	0.41952	-0.480000	0.06559	-1.272000	0.02427	-0.379000	0.06801	CAA	.		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		A	166781171	T	A	166781171	3	1	31	1	0	0	0	0	1	0	0	0	16737	1722	60	5	2618	5	TTC21B	2	166781171	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	154204	166781171	76418202	436	5988											
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	167060640	167060640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaccctccttttctacCatcatggttaccatgttgag	6	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:167060640C>A	ENST00000409435.1	-	25	4598	c.4599G>T	c.(4597-4599)atG>atT	p.M1533I	SCN9A_ENST00000375387.4_Missense_Mutation_p.M1534I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1522I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.M1534I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1533					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTTTCTACCATCATGGTTA	0.343																																					p.M1522I		.											.	SCN9A-181	0			c.G4566T						.						123	111	115					2																	167060640		1889	4149	6038	SO:0001583	missense	6335	exon26			TTCTACCATCATG	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4599G>T	2.37:g.167060640C>A	ENSP00000386330:p.Met1533Ile	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	101	26	NM_002977	0	0	0	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369079	0.82463	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.99177	1.0866	10	0.87932	D	0	.	17.5054	0.87743	0.0:1.0:0.0:0.0	.	1522	E7EUN6	.	I	1522;1534;1534;1533	ENSP00000386306:M1522I;ENSP00000364536:M1534I;ENSP00000304748:M1534I;ENSP00000386330:M1533I	ENSP00000304748:M1534I	M	-	3	0	SCN9A	166768886	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.743000	0.85020	2.210000	0.71456	0.455000	0.32223	ATG	.		0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167060640	C	A	167060640	3	1	31	1	0	0	0	0	1	0	0	0	13970	594	21	3	1375	3	SCN9A	2	167060640	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	279469	167060640	76138733	437	5989											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	168100697	168100697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagataaaaaggagtacaCacgaacagtgaaacttgaag	9	5	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168100697C>T	ENST00000409195.1	+	9	2884	c.2795C>T	c.(2794-2796)aCa>aTa	p.T932I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T932I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T710I|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	757					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						AAGGAGTACACACGAACAGTG	0.338																																					p.T932I		.											.	XIRP2-104	0			c.C2795T						.						52	50	50					2																	168100697		1830	4092	5922	SO:0001583	missense	129446	exon9			AGTACACACGAAC	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.2795C>T	2.37:g.168100697C>T	ENSP00000386840:p.Thr932Ile	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	154	50	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129886	0.01756	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02369	4.32;4.32;4.32	5.98	1.33	0.21861	.	0.524557	0.22185	N	0.063444	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.49624	-0.8920	10	0.10636	T	0.68	-7.4138	9.0773	0.36529	0.0:0.3158:0.0:0.6842	.	757;757;710	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	932;932;710	ENSP00000386840:T932I;ENSP00000295237:T932I;ENSP00000387255:T710I	ENSP00000295237:T932I	T	+	2	0	XIRP2	167808943	0.000000	0.05858	0.786000	0.31890	0.938000	0.57974	0.085000	0.14912	0.326000	0.23384	-0.150000	0.13652	ACA	.		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100697	C	T	168100697	3	4	31	1	0	0	0	0	1	0	0	0	17479	478	17	3	2825	3	XIRP2	2	168100697	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1040057	168100697	75098676	438	5990											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	168107417	168107417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacagagcaaacacttcccCttctccacccaggagtcgct	6	17	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168107417C>A	ENST00000409195.1	+	9	9604	c.9515C>A	c.(9514-9516)cCt>cAt	p.P3172H	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3172H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2950H|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2997					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						AACACTTCCCCTTCTCCACCC	0.498																																					p.P3172H		.											.	XIRP2-104	0			c.C9515A						.						86	85	86					2																	168107417		1909	4124	6033	SO:0001583	missense	129446	exon9			CTTCCCCTTCTCC	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.9515C>A	2.37:g.168107417C>A	ENSP00000386840:p.Pro3172His	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	127	40	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111878	0.37242	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03468	3.93;3.93;3.92	5.75	4.88	0.63580	.	0.061993	0.64402	D	0.000004	T	0.15696	0.0378	M	0.72894	2.215	0.51767	D	0.999934	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.936;0.971;0.983	T	0.00192	-1.1935	10	0.87932	D	0	-7.9197	12.2172	0.54412	0.0:0.9197:0.0:0.0803	.	2997;2997;2950	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3172;3172;2950;586	ENSP00000386840:P3172H;ENSP00000295237:P3172H;ENSP00000387255:P2950H	ENSP00000295237:P3172H	P	+	2	0	XIRP2	167815663	0.987000	0.35691	0.015000	0.15790	0.249000	0.25844	3.007000	0.49536	1.444000	0.47605	0.460000	0.39030	CCT	.		0.498	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168107417	C	A	168107417	3	1	31	1	0	0	0	0	1	0	0	0	17479	681	24	3	9545	3	XIRP2	2	168107417	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6720	168107417	75091956	439	5991											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	168107715	168107715	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaagagagctacttaTgttcataaagatggactaaa	11	4	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168107715T>G	ENST00000409195.1	+	9	9902	c.9813T>G	c.(9811-9813)taT>taG	p.Y3271*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Y3271*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Y3049*|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3096					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						GAGCTACTTATGTTCATAAAG	0.438																																					p.Y3271X		.											.	XIRP2-104	0			c.T9813G						.						80	77	78					2																	168107715		1951	4153	6104	SO:0001587	stop_gained	129446	exon9			TACTTATGTTCAT	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.9813T>G	2.37:g.168107715T>G	ENSP00000386840:p.Tyr3271*	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	175	65	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	48	13.949363	0.99772	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	5.61	-7.93	0.01156	.	0.188789	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8125	16.2718	0.82624	0.0:0.3357:0.0:0.6643	.	.	.	.	X	3271;3271;3049;685	.	ENSP00000295237:Y3271X	Y	+	3	2	XIRP2	167815961	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.227000	0.02950	-2.260000	0.00692	-1.811000	0.00612	TAT	.		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168107715	T	G	168107715	4	3	31	1	0	0	0	0	0	1	0	0	17479	1471	51	5	9843	5	XIRP2	2	168107715	Nonsense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	298	168107715	75091658	440	5992											
LASS6	253782	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	169404169	169404169	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatggaccacaaattgctccGcccaatgccattctggaaaa	7	12	1	0	rs112858320	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:169404169G>T	ENST00000305747.6	+	2	821	c.234G>T	c.(232-234)ccG>ccT	p.P78P	CERS6_ENST00000392687.4_Silent_p.P78P	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	78					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AAATTGCTCCGCCCAATGCCA	0.448																																					p.P78P		.											.	.	0			c.G234T						.						103	86	92					2																	169404169		2203	4300	6503	SO:0001819	synonymous_variant	253782	exon2			TGCTCCGCCCAAT	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.234G>T	2.37:g.169404169G>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	105	45	NM_203463	0	0	0	0	0	Q32M63|Q8N617	Silent	SNP	ENST00000305747.6	37	CCDS2228.1																																																																																			G|0.997;A|0.003		0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		T	169404169	G	T	169404169	2	4	31	1	0	0	0	0	0	0	0	1	8671	1074	38	2		2	LASS6	2	169404169	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1296454	169404169	73795204	441	5993											
G6PC2	57818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	169759005	169759005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaagaaactcagatttAcccaaatcactcaagtccat	5	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:169759005A>T	ENST00000375363.3	+	2	361	c.269A>T	c.(268-270)tAc>tTc	p.Y90F	G6PC2_ENST00000429379.2_Missense_Mutation_p.Y90F|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	90					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACTCAGATTTACCCAAATCAC	0.378																																					p.Y90F		.											.	G6PC2-91	0			c.A269T						.						117	111	113					2																	169759005		2203	4300	6503	SO:0001583	missense	57818	exon2			AGATTTACCCAAA	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.269A>T	2.37:g.169759005A>T	ENSP00000364512:p.Tyr90Phe	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	81	26	NM_021176	0	0	0	0	0	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270117	0.80469	.	.	ENSG00000152254	ENST00000375363;ENST00000429379	T;T	0.74842	-0.88;-0.88	5.58	5.58	0.84498	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.269315	0.30142	N	0.010311	T	0.65842	0.2730	L	0.41492	1.28	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.23716	0.048;0.028	T	0.61113	-0.7128	10	0.31617	T	0.26	-20.3242	10.9052	0.47076	0.8598:0.0:0.0:0.1402	.	90;90	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	F	90	ENSP00000364512:Y90F;ENSP00000396939:Y90F	ENSP00000364512:Y90F	Y	+	2	0	G6PC2	169467251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.741000	0.68638	2.112000	0.64535	0.533000	0.62120	TAC	.		0.378	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		T	169759005	A	T	169759005	3	4	31	1	0	0	0	0	1	0	0	0	6168	391	14	5	275	5	G6PC2	2	169759005	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	354836	169759005	73440368	442	5994											
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	170088312	170088312	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctgtgaggaaagcagGcagagatggctgcagcggga	18	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:170088312G>T	ENST00000263816.3	-	31	5424	c.5139C>A	c.(5137-5139)tgC>tgA	p.C1713*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1713	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGGAAAGCAGGCAGAGATGGC	0.468																																					p.C1713X		.											.	LRP2-175	0			c.C5139A						.						68	72	71					2																	170088312		2203	4300	6503	SO:0001587	stop_gained	4036	exon31			AAGCAGGCAGAGA		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.5139C>A	2.37:g.170088312G>T	ENSP00000263816:p.Cys1713*	Somatic	419	0		WXS	Illumina GAIIx	Phase_I	443	151	NM_004525	0	0	0	0	0	O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	47	13.436540	0.99742	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.51	2.72	0.32119	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0818	0.36556	0.3464:0.0:0.6536:0.0	.	.	.	.	X	1713	.	ENSP00000263816:C1713X	C	-	3	2	LRP2	169796558	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.503000	0.22610	0.700000	0.31782	0.650000	0.86243	TGC	.		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170088312	G	T	170088312	4	4	31	1	0	0	0	0	0	1	0	0	8991	1195	42	3	9024	3	LRP2	2	170088312	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	329307	170088312	73111061	443	5995											
SP5	389058	hgsc.bcm.edu	37	chr2	171573185	171573185	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcaggccgcgctgccGccaggctactccaacctgct	13	18	0	0	rs1134626	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:171573185G>T	ENST00000375281.3	+	2	630	c.468G>T	c.(466-468)ccG>ccT	p.P156P	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	156					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P156P(1)		NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCGCGCTGCCGCCAGGCTACT	0.751													G|||	1034	0.20647	0.0242	0.2017	5008	,	,		6711	0.1815		0.3579	False		,,,				2504	0.3262				p.P156P		.											.	SP5-90	1	Substitution - coding silent(1)	NS(1)	c.G468T						.	G		219,2535		16,187,1174	5	6	6		468	-7.5	0.4	2	dbSNP_86	6	2090,4520		318,1454,1533	no	coding-synonymous	SP5	NM_001003845.2		334,1641,2707	TT,TG,GG		31.6188,7.9521,24.6583		156/399	171573185	2309,7055	1377	3305	4682	SO:0001819	synonymous_variant	389058	exon2			GCTGCCGCCAGGC		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.468G>T	2.37:g.171573185G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	17	NM_001003845	0	0	0	0	0		Silent	SNP	ENST00000375281.3	37	CCDS33322.1																																																																																			G|0.766;T|0.234		0.751	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		T	171573185	G	T	171573185	2	4	31	1	0	0	0	0	0	0	0	1	15012	1074	38	2		2	SP5	2	171573185	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1484873	171573185	71626188	444	5996											
HOXD13	3239	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr2	176957863	176957863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaccccgggacctctgagcGcacgggctcttcctcgtcgt	12	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:176957863G>T	ENST00000392539.3	+	1	245	c.245G>T	c.(244-246)cGc>cTc	p.R82L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	82					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCTCTGAGCGCACGGGCTCT	0.761			T	NUP98	AML*																																p.R82L		.		Dom	yes		2	2q31-q32	3239	homeo box D13		L	.	HOXD13-658	0			c.G245T						.						10	12	12					2																	176957863		1994	3922	5916	SO:0001583	missense	3239	exon1			CTGAGCGCACGGG	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.245G>T	2.37:g.176957863G>T	ENSP00000376322:p.Arg82Leu	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	47	14	NM_000523	0	0	0	0	0		Missense_Mutation	SNP	ENST00000392539.3	37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101537	0.76983	.	.	ENSG00000128714	ENST00000392539	D	0.94758	-3.51	3.53	3.53	0.40419	.	0.474750	0.16513	N	0.211143	D	0.86397	0.5923	N	0.08118	0	0.33342	D	0.569957	B	0.18461	0.028	B	0.19666	0.026	D	0.85941	0.1458	10	0.45353	T	0.12	.	9.5879	0.39528	0.0:0.0:0.7902:0.2098	.	82	P35453	HXD13_HUMAN	L	82	ENSP00000376322:R82L	ENSP00000376322:R82L	R	+	2	0	HOXD13	176666109	0.989000	0.36119	1.000000	0.80357	0.881000	0.50899	1.321000	0.33678	1.801000	0.52704	0.467000	0.42956	CGC	.		0.761	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			T	176957863	G	T	176957863	3	4	31	1	0	0	0	0	1	0	0	0	7349	1087	38	2	247	2	HOXD13	2	176957863	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5384678	176957863	66241510	445	5997											
HOXD8	3234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	176996244	176996244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaggaaaacaacaaggaCaaatttcccgtttcccggca	7	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:176996244C>A	ENST00000313173.4	+	2	1404	c.777C>A	c.(775-777)gaC>gaA	p.D259E	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.D75E|HOXD8_ENST00000544999.1_Missense_Mutation_p.D258E|HOXD8_ENST00000450510.2_Missense_Mutation_p.D258E|HOXD8_ENST00000548663.1_Missense_Mutation_p.D155E	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	259					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAACAAGGACAAATTTCCCG	0.493																																					p.D259E		.											.	HOXD8-90	0			c.C777A						.						87	101	96					2																	176996244		2203	4300	6503	SO:0001583	missense	3234	exon2			CAAGGACAAATTT		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.777C>A	2.37:g.176996244C>A	ENSP00000315949:p.Asp259Glu	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	133	47	NM_019558	0	0	0	0	0	F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935781	0.34189	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91124	-2.69;-2.79;-2.69;-2.54;-2.69	5.65	3.85	0.44370	Homeobox (1);	0.000000	0.64402	D	0.000010	T	0.81898	0.4920	N	0.24115	0.695	0.45541	D	0.99849	B;P	0.39391	0.349;0.671	B;B	0.36464	0.099;0.225	T	0.76255	-0.3026	10	0.22706	T	0.39	.	10.9663	0.47414	0.1297:0.8032:0.0:0.0671	.	258;259	Q8IXZ1;P13378	.;HXD8_HUMAN	E	75;259;258;155;258	ENSP00000406045:D75E;ENSP00000315949:D259E;ENSP00000437431:D258E;ENSP00000448196:D155E;ENSP00000409026:D258E	ENSP00000315949:D259E	D	+	3	2	HOXD8	176704490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.913000	0.48790	0.722000	0.32252	-0.137000	0.14449	GAC	.		0.493	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			A	176996244	C	A	176996244	3	1	31	1	0	0	0	0	1	0	0	0	7352	477	17	3	783	3	HOXD8	2	176996244	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	38381	176996244	66203129	446	5998											
OSBPL6	114880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179209068	179209068	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgccggcagaggctagCggcagcagtggctacaacag	16	12	0	1	rs137879178	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179209068C>A	ENST00000190611.4	+	11	1363				OSBPL6_ENST00000315022.2_Missense_Mutation_p.A327E|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A348E	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGAGGCTAGCGGCAGCAGTG	0.557																																					p.A348E		.											.	OSBPL6-69	0			c.C1043A						.						49	51	51					2																	179209068		2203	4300	6503	SO:0001627	intron_variant	114880	exon12			GGCTAGCGGCAGC	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.987+4577C>A	2.37:g.179209068C>A		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	120	38	NM_001201480	0	0	0	0	0	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045865	0.55110	.	.	ENSG00000079156	ENST00000392505;ENST00000315022	T;T	0.11821	2.74;2.75	6.02	6.02	0.97574	.	0.065610	0.64402	D	0.000011	T	0.33731	0.0873	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	T	0.00747	-1.1583	9	0.18276	T	0.48	-13.5024	18.7178	0.91682	0.0:1.0:0.0:0.0	.	327;348	Q9BZF3-3;Q9BZF3-5	.;.	E	348;327	ENSP00000376293:A348E;ENSP00000318723:A327E	ENSP00000318723:A327E	A	+	2	0	OSBPL6	178917314	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.857000	0.98124	0.650000	0.86243	GCG	C|0.999;T|0.001		0.557	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		A	179209068	C	A	179209068	1	1	31	0	1	0	0	0	0	0	0	0	11320	768	27	2		2	OSBPL6	2	179209068	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2212824	179209068	63990305	447	5999											
FKBP7	51661	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179341878	179341878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatagcaatgtctaggCcttttatgacttgcccaaca	7	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179341878C>A	ENST00000424785.2	-	2	342	c.284G>T	c.(283-285)gGc>gTc	p.G95V	FKBP7_ENST00000434643.2_Missense_Mutation_p.G95V|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	95	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATGTCTAGGCCTTTTATGAC	0.403																																					p.G95V	Melanoma(26;682 927 5286 17599 46613)	.											.	FKBP7-90	0			c.G284T						.						91	91	91					2																	179341878		2203	4300	6503	SO:0001583	missense	51661	exon2			TCTAGGCCTTTTA	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.284G>T	2.37:g.179341878C>A	ENSP00000413152:p.Gly95Val	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	110	33	NM_001135212	0	0	0	0	0	Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913223	0.92178	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.73258	-0.73;-0.73	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	H	0.96239	3.79	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	D	0.92398	0.5927	10	0.87932	D	0	-9.7901	20.1086	0.97902	0.0:1.0:0.0:0.0	.	95;95;95	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	V	95	ENSP00000413152:G95V;ENSP00000415486:G95V	ENSP00000233092:G95V	G	-	2	0	FKBP7	179050124	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.487000	0.81328	2.756000	0.94617	0.563000	0.77884	GGC	.		0.403	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		A	179341878	C	A	179341878	3	1	31	1	0	0	0	0	1	0	0	0	5935	739	26	3	396	3	FKBP7	2	179341878	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	132810	179341878	63857495	448	6000											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179406032	179406032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggatccatggcaacgatgGgtttggaaggacgacttggt	15	6	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179406032G>T	ENST00000591111.1	-	300	93073	c.92849C>A	c.(92848-92850)cCc>cAc	p.P30950H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23526H|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30023H|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32591H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23651H|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23718H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30950	Fibronectin type-III 125. {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)			GGCAACGATGGGTTTGGAAGG	0.413																																					p.P32591H		.											.	TTN-636	0			c.C97772A						.						69	64	66					2																	179406032		1908	4113	6021	SO:0001583	missense	7273	exon350			ACGATGGGTTTGG	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.92849C>A	2.37:g.179406032G>T	ENSP00000465570:p.Pro30950His	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	184	68	NM_001267550	0	0	0	0	0	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	21.3	4.128383	0.77549	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.1;-0.12;-0.14	5.7	5.7	0.88788	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82075	0.4958	M	0.86573	2.825	0.48571	D	0.999675	P;P;P;D	0.63880	0.621;0.621;0.621;0.993	B;B;B;P	0.55667	0.234;0.234;0.299;0.781	D	0.85087	0.0949	9	0.87932	D	0	.	19.8479	0.96722	0.0:0.0:1.0:0.0	.	23526;23651;23718;30950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30023;23526;23718;23651;23523	ENSP00000343764:P30023H;ENSP00000434586:P23526H;ENSP00000340554:P23718H;ENSP00000352154:P23651H	ENSP00000340554:P23718H	P	-	2	0	TTN	179114278	1.000000	0.71417	0.972000	0.41901	0.901000	0.52897	7.650000	0.83521	2.681000	0.91329	0.655000	0.94253	CCC	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179406032	G	T	179406032	3	4	31	1	0	0	0	0	1	0	0	0	16784	1232	43	3	10259	3	TTN	2	179406032	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	64154	179406032	63793341	449	6001											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179422421	179422421	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgaatctatatgatcactGatgccaaagcggttttctgc	9	9	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179422421G>T	ENST00000591111.1	-	278	82961	c.82737C>A	c.(82735-82737)atC>atA	p.I27579I	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I20155I|TTN_ENST00000342992.6_Silent_p.I26652I|TTN_ENST00000589042.1_Silent_p.I29220I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I20280I|TTN_ENST00000342175.6_Silent_p.I20347I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27579	Fibronectin type-III 100. {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)			TATGATCACTGATGCCAAAGC	0.393																																					p.I29220I		.											.	TTN-636	0			c.C87660A						.						322	314	317					2																	179422421		1935	4134	6069	SO:0001819	synonymous_variant	7273	exon328			ATCACTGATGCCA	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.82737C>A	2.37:g.179422421G>T		Somatic	220	0		WXS	Illumina GAIIx	Phase_I	287	92	NM_001267550	0	0	0	0	0	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																																																																																				.		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179422421	G	T	179422421	2	4	31	1	0	0	0	0	0	0	0	1	16784	1280	45	3		3	TTN	2	179422421	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	16389	179422421	63776952	450	6002											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179426459	179426459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggagctctttccatagcGgttttctgcacaaacacgga	10	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179426459G>T	ENST00000591111.1	-	276	79701	c.79477C>A	c.(79477-79479)Cgc>Agc	p.R26493S	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19069S|TTN_ENST00000342992.6_Missense_Mutation_p.R25566S|TTN_ENST00000589042.1_Missense_Mutation_p.R28134S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19194S|TTN_ENST00000342175.6_Missense_Mutation_p.R19261S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26493	Fibronectin type-III 92. {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)			TTTCCATAGCGGTTTTCTGCA	0.458																																					p.R28134S		.											.	TTN-636	0			c.C84400A						.						82	84	83					2																	179426459		1901	4116	6017	SO:0001583	missense	7273	exon326			CATAGCGGTTTTC	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.79477C>A	2.37:g.179426459G>T	ENSP00000465570:p.Arg26493Ser	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	160	52	NM_001267550	0	0	0	0	0	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	14.15	2.448258	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.1	5.21	0.72293	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62245	0.2412	L	0.46670	1.46	0.58432	D	0.999999	D;D;D;P	0.56287	0.975;0.975;0.975;0.954	P;P;P;P	0.55965	0.788;0.788;0.788;0.716	T	0.66300	-0.5958	9	0.87932	D	0	.	16.6485	0.85182	0.0:0.0:0.869:0.131	.	19069;19194;19261;26493	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	25566;19069;19261;19194;19067	ENSP00000343764:R25566S;ENSP00000434586:R19069S;ENSP00000340554:R19261S;ENSP00000352154:R19194S	ENSP00000340554:R19261S	R	-	1	0	TTN	179134705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.688000	0.68227	1.550000	0.49438	0.650000	0.86243	CGC	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179426459	G	T	179426459	3	4	31	1	0	0	0	0	1	0	0	0	16784	1116	39	2	23727	2	TTN	2	179426459	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4038	179426459	63772914	451	6003											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179426490	179426490	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaacacggaactgatactcActtcctgttgtcaggcgaac	8	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179426490A>T	ENST00000591111.1	-	276	79670	c.79446T>A	c.(79444-79446)agT>agA	p.S26482R	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19058R|TTN_ENST00000342992.6_Missense_Mutation_p.S25555R|TTN_ENST00000589042.1_Missense_Mutation_p.S28123R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19183R|TTN_ENST00000342175.6_Missense_Mutation_p.S19250R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26482	Fibronectin type-III 92. {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)			ACTGATACTCACTTCCTGTTG	0.433																																					p.S28123R		.											.	TTN-636	0			c.T84369A						.						73	74	74					2																	179426490		1887	4113	6000	SO:0001583	missense	7273	exon326			ATACTCACTTCCT	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.79446T>A	2.37:g.179426490A>T	ENSP00000465570:p.Ser26482Arg	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	186	67	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.423	1.083634	0.20309	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.1	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36635	0.0974	N	0.16567	0.415	0.45762	D	0.998657	P;P;P;P	0.39352	0.669;0.669;0.669;0.521	B;B;B;B	0.40636	0.335;0.335;0.335;0.255	T	0.31052	-0.9957	9	0.87932	D	0	.	6.1448	0.20278	0.6913:0.0:0.0673:0.2413	.	19058;19183;19250;26482	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	25555;19058;19250;19183;19056	ENSP00000343764:S25555R;ENSP00000434586:S19058R;ENSP00000340554:S19250R;ENSP00000352154:S19183R	ENSP00000340554:S19250R	S	-	3	2	TTN	179134736	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.869000	0.39519	1.121000	0.41925	-0.297000	0.09499	AGT	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179426490	A	T	179426490	3	4	31	1	0	0	0	0	1	0	0	0	16784	156	6	5	23758	5	TTN	2	179426490	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	31	179426490	63772883	452	6004											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179429435	179429435	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaactttgaactcatactCaaggccctcatcaagcccag	6	13	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179429435C>A	ENST00000591111.1	-	276	76725	c.76501G>T	c.(76501-76503)Gag>Tag	p.E25501*	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18077*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E24574*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27142*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18202*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E18269*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25501	Fibronectin type-III 85. {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)			AACTCATACTCAAGGCCCTCA	0.418																																					p.E27142X		.											.	TTN-636	0			c.G81424T						.						44	45	44					2																	179429435		1885	4112	5997	SO:0001587	stop_gained	7273	exon326			CATACTCAAGGCC	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.76501G>T	2.37:g.179429435C>A	ENSP00000465570:p.Glu25501*	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	126	22	NM_001267550	0	0	0	0	0	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	64	83.126784	0.99994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4946	0.61416	0.0:0.8693:0.0:0.1307	.	.	.	.	X	24574;18077;18269;18202;18075	.	ENSP00000340554:E18269X	E	-	1	0	TTN	179137681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.105000	0.57797	1.526000	0.49068	0.650000	0.86243	GAG	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179429435	C	A	179429435	4	1	31	1	0	0	0	0	0	1	0	0	16784	835	29	3	26703	3	TTN	2	179429435	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2945	179429435	63769938	453	6005											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179430005	179430005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactatttgttgccgttaCggtgtattttccaaagtcat	8	8	1	0	rs371362606		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179430005C>T	ENST00000591111.1	-	276	76155	c.75931G>A	c.(75931-75933)Gta>Ata	p.V25311I	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17887I|TTN_ENST00000342992.6_Missense_Mutation_p.V24384I|TTN_ENST00000589042.1_Missense_Mutation_p.V26952I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18012I|TTN_ENST00000342175.6_Missense_Mutation_p.V18079I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25311	Ig-like 124.				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)			GTTGCCGTTACGGTGTATTTT	0.413																																					p.V26952I		.											.	TTN-636	0			c.G80854A						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3771		0,1,1885	128	122	124		54235,54034,73150,53659	-7.1	0	2		124	1,8231		0,1,4115	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,2,6000	TT,TC,CC		0.0121,0.0265,0.0167	benign,benign,benign,benign	18079/27119,18012/27052,24384/33424,17887/26927	179430005	2,12002	1886	4116	6002	SO:0001583	missense	7273	exon326			CCGTTACGGTGTA	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.75931G>A	2.37:g.179430005C>T	ENSP00000465570:p.Val25311Ile	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	289	95	NM_001267550	0	0	0	0	0	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	4.327	0.060108	0.08339	2.65E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.67	-7.05	0.01573	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);	.	.	.	.	T	0.20981	0.0505	N	0.12422	0.21	0.24060	N	0.996011	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.32745	-0.9895	9	0.87932	D	0	.	8.7258	0.34469	0.0871:0.5508:0.0885:0.2737	.	17887;18012;18079;25311	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24384;17887;18079;18012;17885	ENSP00000343764:V24384I;ENSP00000434586:V17887I;ENSP00000340554:V18079I;ENSP00000352154:V18012I	ENSP00000340554:V18079I	V	-	1	0	TTN	179138251	0.000000	0.05858	0.001000	0.08648	0.511000	0.34104	-0.666000	0.05280	-1.563000	0.01680	-1.200000	0.01667	GTA	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179430005	C	T	179430005	3	4	31	1	0	0	0	0	1	0	0	0	16784	536	19	1	27273	1	TTN	2	179430005	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	570	179430005	63769368	454	6006											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179437248	179437248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgggtcccatgtgagTgtgacagatgtcttagtgac	15	6	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179437248T>C	ENST00000591111.1	-	276	68912	c.68688A>G	c.(68686-68688)acA>acG	p.T22896T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.T15472T|TTN_ENST00000342992.6_Silent_p.T21969T|TTN_ENST00000589042.1_Silent_p.T24537T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T15597T|TTN_ENST00000342175.6_Silent_p.T15664T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22896	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)			CCCATGTGAGTGTGACAGATG	0.438																																					p.T24537T		.											.	TTN-636	0			c.A73611G						.						76	73	74					2																	179437248		1910	4117	6027	SO:0001819	synonymous_variant	7273	exon326			TGTGAGTGTGACA	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.68688A>G	2.37:g.179437248T>C		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	121	44	NM_001267550	0	0	0	0	0	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																																																																																				.		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179437248	T	C	179437248	2	2	31	1	0	0	0	0	0	0	0	1	16784	1683	59	4		4	TTN	2	179437248	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	7243	179437248	63762125	455	6007											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	179481738	179481739	+	Splice_Site	DNP	CA	CA	TT													acttaaatccattgttggttCaactacaaagaagaaaagtt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179481738_179481739CA>TT	ENST00000591111.1	-	206	43178_43179	c.42954_42955TG>AA	c.(42952-42957)gtTGaa>gtAAaa	p.E14319K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.E6895K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.E13392K|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.E15960K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.E7020K|TTN_ENST00000342175.6_Splice_Site_p.E7087K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14319					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)			ATTGTTGGTTCAACTACAAAGA	0.391																																					p.E13392K		.											.	TTN-636	0			c.T47877A						.																																			SO:0001630	splice_region_variant	7273	exon256			TGGTTCAACTACA	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.42954_42955delinsTT	2.37:g.179481738_179481739delinsTT		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	31	2	NM_001267550	0	0	0	0	0	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	DNP	ENST00000591111.1	37																																																																																				.		0.391	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	TT	179481739	CA	TT	179481738	5	4	31	1	0	0	0	0	0	0	1	0	16784	835	29	3	60243	3	TTN	2	179481738	Splice_Site	DNP	CA	TCGA-OR-A5KB-01A-11D-A30A-10	44490	179481738	63717635	456	6008											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179482958	179482958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggattgtcagtttctactgGctcaccagtgccaactctgt	9	11	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179482958G>T	ENST00000591111.1	-	202	42528	c.42304C>A	c.(42304-42306)Cca>Aca	p.P14102T	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6678T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13175T|TTN_ENST00000589042.1_Missense_Mutation_p.P15743T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6803T|TTN_ENST00000342175.6_Missense_Mutation_p.P6870T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14102	Fibronectin type-III 1. {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)			GTTTCTACTGGCTCACCAGTG	0.413																																					p.P15743T		.											.	TTN-636	0			c.C47227A						.						169	166	167					2																	179482958		1925	4133	6058	SO:0001583	missense	7273	exon252			CTACTGGCTCACC	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.42304C>A	2.37:g.179482958G>T	ENSP00000465570:p.Pro14102Thr	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	99	33	NM_001267550	0	0	0	0	0	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	11.32	1.604507	0.28623	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.6	5.6	0.85130	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73393	0.3581	M	0.89478	3.035	0.41231	D	0.986574	P;P;P;P	0.49185	0.92;0.92;0.92;0.92	P;P;P;P	0.53224	0.655;0.655;0.655;0.721	T	0.78814	-0.2056	9	0.87932	D	0	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	6678;6803;6870;14102	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13175;6678;6870;6803;6678	ENSP00000343764:P13175T;ENSP00000434586:P6678T;ENSP00000340554:P6870T;ENSP00000352154:P6803T	ENSP00000340554:P6870T	P	-	1	0	TTN	179191203	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	3.943000	0.56621	2.798000	0.96311	0.650000	0.86243	CCA	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179482958	G	T	179482958	3	4	31	1	0	0	0	0	1	0	0	0	16784	1203	42	3	60910	3	TTN	2	179482958	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1220	179482958	63716415	457	6009											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179505334	179505334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcaacctcttcaacagGttttggaggtggtggttctg	11	8	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179505334G>A	ENST00000591111.1	-	171	35958	c.35734C>T	c.(35734-35736)Cct>Tct	p.P11912S	TTN_ENST00000460472.2_Missense_Mutation_p.P4488S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10985S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13553S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4613S|TTN_ENST00000342175.6_Missense_Mutation_p.P4680S|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11912	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAACAGGTTTTGGAGGT	0.328																																					p.P13553S		.											.	TTN-636	0			c.C40657T						.						152	144	146					2																	179505334		1819	4077	5896	SO:0001583	missense	7273	exon221			CAACAGGTTTTGG	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.35734C>T	2.37:g.179505334G>A	ENSP00000465570:p.Pro11912Ser	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	88	29	NM_001267550	0	0	0	0	0	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|G	10.44|10.44	1.351309|1.351309	0.24512|0.24512	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000429997;ENST00000446966|ENST00000426232	T;T;T;T|.	0.62364|.	0.03;0.12;0.1;0.09|.	4.97|4.97	-0.166|-0.166	0.13351|0.13351	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B|.	0.17038|.	0.001;0.001;0.001;0.001;0.013;0.02|.	B;B;B;B;B;B|.	0.19391|.	0.001;0.001;0.002;0.002;0.025;0.011|.	T|T	0.22312|0.22312	-1.0220|-1.0220	9|5	0.87932|.	D|.	0|.	.|.	14.28|14.28	0.66205|0.66205	0.1103:0.3184:0.5714:0.0|0.1103:0.3184:0.5714:0.0	.|.	4488;4613;4680;11912;10679;340|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5;A2TKE4|.	.;.;.;TITIN_HUMAN;.;.|.	S|I	10985;4488;4680;4613;4488;874;340;340|207	ENSP00000343764:P10985S;ENSP00000434586:P4488S;ENSP00000340554:P4680S;ENSP00000352154:P4613S|.	ENSP00000340554:P4680S|.	P|T	-|-	1|2	0|0	TTN|TTN	179213579|179213579	0.976000|0.976000	0.34144|0.34144	0.515000|0.515000	0.27774|0.27774	0.614000|0.614000	0.37383|0.37383	0.176000|0.176000	0.16782|0.16782	-0.131000|-0.131000	0.11578|0.11578	-0.340000|-0.340000	0.08031|0.08031	CCT|ACC	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179505334	G	A	179505334	3	1	31	1	0	0	0	0	1	0	0	0	16784	1261	44	3	67604	3	TTN	2	179505334	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	22376	179505334	63694039	458	6010											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179517194	179517194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaaatacctttaacagGtgtgacttcaggctttttag	9	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179517194G>A	ENST00000591111.1	-	157	34821	c.34597C>T	c.(34597-34599)Cct>Tct	p.P11533S	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10606S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13040S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11505	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGTGACTTCA	0.383																																					p.P13040S		.											.	TTN-636	0			c.C39118T						.						87	95	92					2																	179517194		1806	4064	5870	SO:0001583	missense	7273	exon202			TAACAGGTGTGAC	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.34597C>T	2.37:g.179517194G>A	ENSP00000465570:p.Pro11533Ser	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	94	30	NM_001267550	0	0	0	0	0	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	15.16	2.752348	0.49362	.	.	ENSG00000155657	ENST00000342992	T	0.72615	-0.67	4.97	3.06	0.35304	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68824	0.3043	M	0.75085	2.285	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	T	0.69580	-0.5107	9	0.87932	D	0	.	10.4391	0.44455	0.0:0.2717:0.5878:0.1405	.	11533	Q8WZ42	TITIN_HUMAN	S	10606	ENSP00000343764:P10606S	ENSP00000343764:P10606S	P	-	1	0	TTN	179225439	0.368000	0.25031	0.986000	0.45419	0.595000	0.36748	0.478000	0.22212	1.071000	0.40834	0.644000	0.83932	CCT	.		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179517194	G	A	179517194	3	1	31	1	0	0	0	0	1	0	0	0	16784	1261	44	3	68797	3	TTN	2	179517194	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	11860	179517194	63682179	459	6011											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179560965	179560965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatttttacttcttcAgctttagaggatacatcaat	5	7	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179560965A>T	ENST00000591111.1	-	112	30107	c.29883T>A	c.(29881-29883)gcT>gcA	p.A9961A	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.A9034A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.A10278A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			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)			TTACTTCTTCAGCTTTAGAGG	0.328																																					p.A10278A		.											.	TTN-636	0			c.T30834A						.						34	28	30					2																	179560965		1790	4034	5824	SO:0001819	synonymous_variant	7273	exon114			TTCTTCAGCTTTA	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.29883T>A	2.37:g.179560965A>T		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	19	7	NM_001267550	0	0	0	0	0	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																																																																																				.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179560965	A	T	179560965	2	4	31	1	0	0	0	0	0	0	0	1	16784	175	7	5		5	TTN	2	179560965	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	43771	179560965	63638408	460	6012											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179598048	179598048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggccactgtcgtgcagCtcagctgaataaaatttgag	10	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179598048C>T	ENST00000591111.1	-	52	15245	c.15021G>A	c.(15019-15021)gaG>gaA	p.E5007E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.E4080E|TTN_ENST00000589042.1_Silent_p.E5324E|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12386	Ig-like 30.				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)			TGTCGTGCAGCTCAGCTGAAT	0.403																																					p.E5324E		.											.	TTN-636	0			c.G15972A						.						90	87	88					2																	179598048		1850	4106	5956	SO:0001819	synonymous_variant	7273	exon54			GTGCAGCTCAGCT	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.15021G>A	2.37:g.179598048C>T		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	99	31	NM_001267550	0	0	0	0	0	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																																																																																				.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179598048	C	T	179598048	2	4	31	1	0	0	0	0	0	0	0	1	16784	796	28	3		3	TTN	2	179598048	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	37083	179598048	63601325	461	6013											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179610937	179610937	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgaacatttgaatacaGcatctgaattttctggaatt	7	6	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179610937G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.A5397D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATACAGCATCTGAATT	0.328																																					p.A5397D		.											.	TTN-636	0			c.C16190A						.						61	64	63					2																	179610937		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AATACAGCATCTG	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.10361-4289C>A	2.37:g.179610937G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	62	23	NM_133379	0	0	0	0	0	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	16.42	3.119257	0.56505	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.79352	-1.26	5.88	4.99	0.66335	.	.	.	.	.	D	0.90693	0.7080	H	0.96662	3.86	0.80722	D	1	P	0.49783	0.928	P	0.56042	0.79	D	0.93727	0.7038	9	0.72032	D	0.01	.	16.8805	0.86061	0.0:0.1283:0.8717:0.0	.	5397	Q8WZ42-6	.	D	5397;678	ENSP00000354117:A5397D	ENSP00000304714:A678D	A	-	2	0	TTN	179319182	1.000000	0.71417	0.089000	0.20774	0.992000	0.81027	5.393000	0.66279	1.451000	0.47736	0.655000	0.94253	GCT	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179610937	G	T	179610937	1	4	31	0	1	0	0	0	0	0	0	0	16784	971	34	3		3	TTN	2	179610937	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	12889	179610937	63588436	462	6014											
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	179616717	179616717	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatctgaaaaggcGtcacgtgtatccctttctga	8	10	5	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179616717G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.D3470E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAAAGGCGTCACGTGTAT	0.358																																					p.D3470E		.											.	TTN-636	0			c.C10410A						.						138	154	149					2																	179616717		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AAAGGCGTCACGT	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+1133C>A	2.37:g.179616717G>T		Somatic	64	1		WXS	Illumina GAIIx	Phase_I	43	16	NM_133379	0	0	0	0	0	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	0.005	-2.148036	0.00328	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.56275	0.47	5.86	-6.44	0.01920	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.47308	D	0.999382	B	0.15719	0.014	B	0.15484	0.013	T	0.40021	-0.9585	9	0.02654	T	1	.	4.3581	0.11188	0.2641:0.089:0.4493:0.1976	.	3470	Q8WZ42-6	.	E	3470;75	ENSP00000354117:D3470E	ENSP00000354117:D3470E	D	-	3	2	TTN	179324962	0.013000	0.17824	0.243000	0.24186	0.096000	0.18686	-0.306000	0.08178	-0.759000	0.04684	-1.731000	0.00696	GAC	.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179616717	G	T	179616717	1	4	31	0	1	0	0	0	0	0	0	0	16784	1136	40	2		2	TTN	2	179616717	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5780	179616717	63582656	463	6015											
TTN	7273	bcgsc.ca;mdanderson.org	37	chr2	179634824	179634824	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctttgcattccaattgcccGaccacagctgtgtattcccc	7	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179634824G>T	ENST00000591111.1	-	36	8828	c.8604C>A	c.(8602-8604)gtC>gtA	p.V2868V	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2868V|TTN_ENST00000460472.2_Silent_p.V2822V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V2868V|TTN_ENST00000589042.1_Silent_p.V2868V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V2822V|TTN_ENST00000342175.6_Silent_p.V2822V			Q8WZ42	TITIN_HUMAN	titin	13196					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)			CCAATTGCCCGACCACAGCTG	0.483																																					p.V2868V		.											.	TTN-636	0			c.C8604A						.						157	149	152					2																	179634824		2203	4300	6503	SO:0001819	synonymous_variant	7273	exon36			TTGCCCGACCACA	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.8604C>A	2.37:g.179634824G>T		Somatic	92	2		WXS	Illumina GAIIx	Phase_I	117	50	NM_001267550	0	0	0	0	0	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																																																																																				.		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179634824	G	T	179634824	2	4	31	1	0	0	0	0	0	0	0	1	16784	1045	37	2		2	TTN	2	179634824	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18107	179634824	63564549	464	6016											
NCKAP1	10787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	183817593	183817593	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagttcacaaacgctttcaTtgcaggaaaatatgctatat	6	7	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:183817593T>A	ENST00000361354.4	-	22	2803	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M817L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	811					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AACGCTTTCATTGCAGGAAAA	0.353																																					p.M817L		.											.	NCKAP1-92	0			c.A2449T						.						89	83	85					2																	183817593		2203	4299	6502	SO:0001583	missense	10787	exon23			CTTTCATTGCAGG	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2431A>T	2.37:g.183817593T>A	ENSP00000355348:p.Met811Leu	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	152	46	NM_205842	0	0	0	0	0	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.843	1.191631	0.21954	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.27720	1.65;1.65	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	N	0.02802	-0.49	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.004	T	0.15636	-1.0430	10	0.15499	T	0.54	-15.8639	16.1008	0.81169	0.0:0.0:0.0:1.0	.	811;817	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	811;817	ENSP00000355348:M811L;ENSP00000354251:M817L	ENSP00000354251:M817L	M	-	1	0	NCKAP1	183525838	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.206000	0.71126	0.533000	0.62120	ATG	.		0.353	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		A	183817593	T	A	183817593	3	1	31	1	0	0	0	0	1	0	0	0	10260	1493	52	5	995	5	NCKAP1	2	183817593	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4182769	183817593	59381780	465	6017											
ZNF804A	91752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	185800948	185800948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttctgaggagaaaacTaactcttttcatccaccaga	7	9	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:185800948T>C	ENST00000302277.6	+	4	1419	c.825T>C	c.(823-825)acT>acC	p.T275T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	275							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						AGGAGAAAACTAACTCTTTTC	0.373																																					p.T275T		.											.	ZNF804A-163	0			c.T825C						.						74	69	71					2																	185800948		2203	4299	6502	SO:0001819	synonymous_variant	91752	exon4			GAAAACTAACTCT	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.825T>C	2.37:g.185800948T>C		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	60	19	NM_194250	0	0	0	0	0	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																			.		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185800948	T	C	185800948	2	2	31	1	0	0	0	0	0	0	0	1	18218	1509	53	4		4	ZNF804A	2	185800948	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1983355	185800948	57398425	466	6018											
FSIP2	401024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	186670638	186670638	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcaaaaacatagtgagaaTgtatcaaaagttacttcaac	5	7	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:186670638T>A	ENST00000424728.1	+	17	16605	c.16605T>A	c.(16603-16605)aaT>aaA	p.N5535K	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5624K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5535										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAGTGAGAATGTATCAAAAG	0.323																																					p.N5624K		.											.	FSIP2-90	0			c.T16872A						.						65	65	65					2																	186670638		1822	4068	5890	SO:0001583	missense	401024	exon17			TGAGAATGTATCA	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.16605T>A	2.37:g.186670638T>A	ENSP00000401306:p.Asn5535Lys	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	139	56	NM_173651	0	0	0	0	0	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	T	17.62	3.433927	0.62955	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	5.22	4.03	0.46877	.	.	.	.	.	T	0.23289	0.0563	N	0.12746	0.255	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	7	0.15066	T	0.55	.	8.0246	0.30430	0.1808:0.0:0.0:0.8192	.	.	.	.	K	5624;5535	ENSP00000344403:N5624K;ENSP00000401306:N5535K	ENSP00000344403:N5624K	N	+	3	2	FSIP2	186378883	0.001000	0.12720	0.001000	0.08648	0.625000	0.37756	0.770000	0.26618	0.942000	0.37525	0.482000	0.46254	AAT	.		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186670638	T	A	186670638	3	1	31	1	0	0	0	0	1	0	0	0	6099	1461	51	5	16938	5	FSIP2	2	186670638	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	869690	186670638	56528735	467	6019											
FAM171B	165215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	187625878	187625878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccaaggacataactgccTaccacacagtgtttcttaca	5	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:187625878T>C	ENST00000304698.5	+	7	1254	c.1051T>C	c.(1051-1053)Tac>Cac	p.Y351H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	351						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATAACTGCCTACCACACAGT	0.333																																					p.Y351H		.											.	FAM171B-141	0			c.T1051C						.						160	145	150					2																	187625878		2203	4300	6503	SO:0001583	missense	165215	exon7			ACTGCCTACCACA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1051T>C	2.37:g.187625878T>C	ENSP00000304108:p.Tyr351His	Somatic	377	0		WXS	Illumina GAIIx	Phase_I	423	175	NM_177454	0	0	0	0	0	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.433929	0.62955	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.58358	0.34	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.71206	2.165	0.54753	D	0.999989	D;D	0.57899	0.981;0.981	P;P	0.57101	0.813;0.813	T	0.72030	-0.4413	10	0.87932	D	0	-11.0759	16.226	0.82293	0.0:0.0:0.0:1.0	.	351;352	Q6P995;A8K122	F171B_HUMAN;.	H	351	ENSP00000304108:Y351H	ENSP00000272804:Y351H	Y	+	1	0	FAM171B	187334123	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.686000	0.68211	2.230000	0.72887	0.528000	0.53228	TAC	.		0.333	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		C	187625878	T	C	187625878	3	2	31	1	0	0	0	0	1	0	0	0	5510	1522	53	4	1077	4	FAM171B	2	187625878	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	955240	187625878	55573495	468	6020											
CALCRL	10203	broad.mit.edu	37	chr2	188245197	188245197	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagaattatgacataccttCactttctcgtgggtgttaac	7	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:188245197C>T	ENST00000409998.1	-	8	1186	c.405G>A	c.(403-405)gtG>gtA	p.V135V	CALCRL_ENST00000392370.3_Silent_p.V135V|CALCRL_ENST00000410068.1_Silent_p.V135V|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	135					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GACATACCTTCACTTTCTCGT	0.343																																					p.V135V		.											.	CALCRL-523	0			c.G405A						.						180	184	183					2																	188245197		2203	4300	6503	SO:0001819	synonymous_variant	10203	exon6			TACCTTCACTTTC	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.405G>A	2.37:g.188245197C>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	59	4	NM_001271751	0	0	0	0	0	A8K6G5|A8KAD3|Q53S02|Q53TS5	Silent	SNP	ENST00000409998.1	37	CCDS2293.1																																																																																			.		0.343	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188245197	C	T	188245197	2	4	31	1	0	0	0	0	0	0	0	1	2587	813	29	3		3	CALCRL	2	188245197	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	619319	188245197	54954176	469	6021											
PMS1	5378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	190719368	190719368	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacggaatatagtaaaacttGttttataagttccgttaagc	8	5	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:190719368G>C	ENST00000441310.2	+	9	1603	c.1370G>C	c.(1369-1371)tGt>tCt	p.C457S	PMS1_ENST00000432292.3_Missense_Mutation_p.C281S|PMS1_ENST00000418224.3_Missense_Mutation_p.C281S|PMS1_ENST00000409823.3_Missense_Mutation_p.C418S|PMS1_ENST00000447232.2_Missense_Mutation_p.C457S|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	457					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGTAAAACTTGTTTTATAAGT	0.353			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																													p.C457S		.	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	PMS1-1396	0			c.G1370C						.						62	65	64					2																	190719368		2202	4299	6501	SO:0001583	missense	5378	exon9			AAACTTGTTTTAT		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1370G>C	2.37:g.190719368G>C	ENSP00000406490:p.Cys457Ser	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	98	30	NM_001128144	0	0	0	0	0	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.528295	0.00959	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.95949	-2.18;-1.85;-2.33;-2.7;-1.85;-2.0;-3.86	4.69	1.73	0.24493	.	1.650300	0.02345	N	0.075293	D	0.89399	0.6704	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.27971	0.001;0.196;0.001;0.102;0.144;0.004;0.001	B;B;B;B;B;B;B	0.22601	0.004;0.021;0.002;0.04;0.03;0.006;0.004	T	0.81711	-0.0808	10	0.13853	T	0.58	-0.7974	4.0702	0.09879	0.1671:0.1279:0.5746:0.1304	.	457;418;418;242;418;457;457	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	281;457;281;418;457;281;396;242	ENSP00000406490:C457S;ENSP00000404492:C281S;ENSP00000387125:C418S;ENSP00000401064:C457S;ENSP00000398378:C281S;ENSP00000389938:C396S;ENSP00000387169:C242S	ENSP00000376149:C281S	C	+	2	0	PMS1	190427613	0.000000	0.05858	0.876000	0.34364	0.064000	0.16182	-0.275000	0.08525	1.173000	0.42796	0.460000	0.39030	TGT	.		0.353	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			C	190719368	G	C	190719368	3	2	31	1	0	0	0	0	1	0	0	0	12181	1377	48	3	1400	3	PMS1	2	190719368	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2474171	190719368	52480005	470	6022											
MSTN	2660	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	190927030	190927030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatcgctgctgtcatccCtctggacatcatactgatca	7	14	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:190927030C>A	ENST00000260950.4	-	1	425	c.293G>T	c.(292-294)aGg>aTg	p.R98M	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	98					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GCTGTCATCCCTCTGGACATC	0.443																																					p.R98M		.											.	MSTN-650	0			c.G293T						.						141	127	132					2																	190927030		2203	4300	6503	SO:0001583	missense	2660	exon1			TCATCCCTCTGGA	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.293G>T	2.37:g.190927030C>A	ENSP00000260950:p.Arg98Met	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	208	87	NM_005259	0	0	0	0	0	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303643	0.40795	.	.	ENSG00000138379	ENST00000260950	T	0.65364	-0.15	5.35	4.47	0.54385	Transforming growth factor-beta, N-terminal (1);	0.097279	0.64402	D	0.000001	T	0.53417	0.1795	L	0.48642	1.525	0.36299	D	0.856888	B	0.02656	0.0	B	0.16722	0.016	T	0.59085	-0.7520	10	0.56958	D	0.05	-4.0963	9.0001	0.36077	0.149:0.7778:0.0:0.0732	.	98	O14793	GDF8_HUMAN	M	98	ENSP00000260950:R98M	ENSP00000260950:R98M	R	-	2	0	MSTN	190635275	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.901000	0.56303	1.464000	0.47987	0.655000	0.94253	AGG	.		0.443	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		A	190927030	C	A	190927030	3	1	31	1	0	0	0	0	1	0	0	0	9931	681	24	3	846	3	MSTN	2	190927030	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	207662	190927030	52272343	471	6023											
TMEFF2	23671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	192863915	192863915	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgaagttggtttgagaacAgtcaatattacacacacacc	7	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:192863915A>T	ENST00000272771.5	-	6	1740	c.556T>A	c.(556-558)Tgt>Agt	p.C186S	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Missense_Mutation_p.C186S|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	186	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					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)			GTTTGAGAACAGTCAATATTA	0.333																																					p.C186S	Pancreas(50;1277 1381 28487 47072)	.											.	TMEFF2-524	0			c.T556A						.						102	97	99					2																	192863915		2203	4300	6503	SO:0001583	missense	23671	exon6			GAGAACAGTCAAT	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.556T>A	2.37:g.192863915A>T	ENSP00000272771:p.Cys186Ser	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	97	34	NM_016192	0	0	0	0	0	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817990	0.71028	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	D;D	0.94184	-3.37;-3.37	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.139082	0.64402	D	0.000002	D	0.97235	0.9096	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97814	1.0252	10	0.62326	D	0.03	-9.7198	16.3426	0.83092	1.0:0.0:0.0:0.0	.	186	Q9UIK5	TEFF2_HUMAN	S	186	ENSP00000376128:C186S;ENSP00000272771:C186S	ENSP00000272771:C186S	C	-	1	0	TMEFF2	192572160	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	8.910000	0.92685	2.317000	0.78254	0.460000	0.39030	TGT	.		0.333	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		T	192863915	A	T	192863915	3	4	31	1	0	0	0	0	1	0	0	0	16061	188	7	5	588	5	TMEFF2	2	192863915	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1936885	192863915	50335458	472	6024											
TMEFF2	23671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	193044393	193044393	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaaaaggcaactcctaCctccatctccagatcctgat	5	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:193044393C>A	ENST00000272771.5	-	4	1624		c.e4+1		TMEFF2_ENST00000409056.3_Missense_Mutation_p.G147V|TMEFF2_ENST00000392314.1_Splice_Site	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2							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)			GCAACTCCTACCTCCATCTCC	0.299																																					.	Pancreas(50;1277 1381 28487 47072)	.											.	TMEFF2-524	0			c.439+1G>T						.						68	73	71					2																	193044393		2203	4293	6496	SO:0001630	splice_region_variant	23671	exon5			CTCCTACCTCCAT	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.439+1G>T	2.37:g.193044393C>A		Somatic	207	0		WXS	Illumina GAIIx	Phase_I	151	60	NM_016192	0	0	0	0	0	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Splice_Site	SNP	ENST00000272771.5	37	CCDS2314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.901687|3.901687	0.72754|0.72754	.|.	.|.	ENSG00000144339|ENSG00000144339	ENST00000392314;ENST00000272771|ENST00000409056	.|T	.|0.69685	.|-0.42	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78220	.|0.4249	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.73594	.|-0.3933	.|8	.|0.20519	.|T	.|0.43	.|.	16.3671|16.3671	0.83335|0.83335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147	.|Q9UIK5-3	.|.	.|V	-1|147	.|ENSP00000386871:G147V	.|ENSP00000386871:G147V	.|G	-|-	.|2	.|0	TMEFF2|TMEFF2	192752638|192752638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	5.846000|5.846000	0.69444|0.69444	2.536000|2.536000	0.85505|0.85505	0.591000|0.591000	0.81541|0.81541	.|GGT	.		0.299	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	Intron	A	193044393	C	A	193044393	5	1	31	1	0	0	0	0	0	0	1	0	16061	521	18	3	712	3	TMEFF2	2	193044393	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	180478	193044393	50154980	473	6025											
DNAH7	56171	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	196737099	196737099	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgagatttagctggagTaggcaagagattcttcattg	13	4	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:196737099T>A	ENST00000312428.6	-	40	6608	c.6508A>T	c.(6508-6510)Act>Tct	p.T2170S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2170	AAA 3. {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						TTAGCTGGAGTAGGCAAGAGA	0.373																																					p.T2170S		.											.	DNAH7-102	0			c.A6508T						.						180	166	170					2																	196737099		1866	4103	5969	SO:0001583	missense	56171	exon40			CTGGAGTAGGCAA	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.6508A>T	2.37:g.196737099T>A	ENSP00000311273:p.Thr2170Ser	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	168	54	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622452	0.87460	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77515	-0.2559	10	0.87932	D	0	.	13.973	0.64252	0.0:0.0:0.0:1.0	.	2170	Q8WXX0	DYH7_HUMAN	S	2170	ENSP00000311273:T2170S	ENSP00000311273:T2170S	T	-	1	0	DNAH7	196445344	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	7.760000	0.85248	2.029000	0.59856	0.528000	0.53228	ACT	.		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196737099	T	A	196737099	3	1	31	1	0	0	0	0	1	0	0	0	4620	1638	57	5	5670	5	DNAH7	2	196737099	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3692706	196737099	46462274	474	6026											
CCDC150	284992	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197511082	197511082	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtacatatggaaactacAgtgtccagaccggtcctttc	9	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:197511082A>G	ENST00000389175.4	+	2	165	c.30A>G	c.(28-30)acA>acG	p.T10T	CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	10										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGAAACTACAGTGTCCAGAC	0.428																																					p.T10T		.											.	.	0			c.A30G						.						165	154	157					2																	197511082		1938	4126	6064	SO:0001819	synonymous_variant	284992	exon2			AACTACAGTGTCC		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.30A>G	2.37:g.197511082A>G		Somatic	214	1		WXS	Illumina GAIIx	Phase_I	256	89	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.428	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		G	197511082	A	G	197511082	2	3	31	1	0	0	0	0	0	0	0	1	2792	175	7	4		4	CCDC150	2	197511082	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	773983	197511082	45688291	475	6027											
PLCL1	5334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	198950268	198950268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattttcagactccgggtcCaatgatggaccttcacacgg	10	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:198950268C>A	ENST00000428675.1	+	2	2425	c.2027C>A	c.(2026-2028)cCa>cAa	p.P676Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.P578Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	676	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTCCGGGTCCAATGATGGAC	0.453																																					p.P676Q		.											.	PLCL1-228	0			c.C2027A						.						58	59	59					2																	198950268		2203	4298	6501	SO:0001583	missense	5334	exon2			CGGGTCCAATGAT	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.2027C>A	2.37:g.198950268C>A	ENSP00000402861:p.Pro676Gln	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	78	20	NM_006226	0	0	0	0	0	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045421	0.36085	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.51817	0.69;0.69	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.183082	0.39274	N	0.001402	T	0.44052	0.1275	N	0.17723	0.515	0.58432	D	0.999992	P;P	0.48230	0.907;0.907	P;P	0.48738	0.588;0.588	T	0.18618	-1.0331	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	676;602	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	676;578	ENSP00000402861:P676Q;ENSP00000414138:P578Q	.	P	+	2	0	PLCL1	198658513	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	5.855000	0.69510	2.793000	0.96121	0.561000	0.74099	CCA	.		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		A	198950268	C	A	198950268	3	1	31	1	0	0	0	0	1	0	0	0	12078	594	21	3	2033	3	PLCL1	2	198950268	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1439186	198950268	44249105	476	6028											
NBEAL1	65065	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	204039945	204039945	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactattcaaattctgcgggGgtcatgcactatctcattcg	8	11	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:204039945G>T	ENST00000449802.1	+	41	6645	c.6312G>T	c.(6310-6312)ggG>ggT	p.G2104G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2104	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									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						ATTCTGCGGGGGTCATGCACT	0.378																																					p.G2104G		.											.	NBEAL1-92	0			c.G6312T						.						103	103	103					2																	204039945		1862	4088	5950	SO:0001819	synonymous_variant	65065	exon41			TGCGGGGGTCATG	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.6312G>T	2.37:g.204039945G>T		Somatic	181	1		WXS	Illumina GAIIx	Phase_I	230	75	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204039945	G	T	204039945	2	4	31	1	0	0	0	0	0	0	0	1	10226	1219	43	3		3	NBEAL1	2	204039945	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5089677	204039945	39159428	477	6029											
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207169902	207169902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcatttggattcagttaGcaaatgtgacccaaacaaag	8	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207169902G>T	ENST00000374423.3	+	5	1036	c.650G>T	c.(649-651)aGc>aTc	p.S217I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	217							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTCAGTTAGCAAATGTGAC	0.413																																					p.S217I		.											.	ZDBF2-3	0			c.G650T						.						44	43	44					2																	207169902		1874	4101	5975	SO:0001583	missense	57683	exon5			CAGTTAGCAAATG	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.650G>T	2.37:g.207169902G>T	ENSP00000363545:p.Ser217Ile	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	117	36	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162337	0.57368	.	.	ENSG00000204186	ENST00000374423	T	0.19394	2.15	5.11	-5.42	0.02640	.	0.558528	0.15080	N	0.281712	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.25563	0.129	B	0.18561	0.022	T	0.15983	-1.0418	10	0.52906	T	0.07	.	1.1801	0.01844	0.3455:0.1047:0.3271:0.2227	.	217	Q9HCK1	ZDBF2_HUMAN	I	217	ENSP00000363545:S217I	ENSP00000363545:S217I	S	+	2	0	ZDBF2	206878147	0.000000	0.05858	0.000000	0.03702	0.695000	0.40330	-0.111000	0.10807	-0.566000	0.06054	-0.355000	0.07637	AGC	.		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207169902	G	T	207169902	3	4	31	1	0	0	0	0	1	0	0	0	17647	971	34	3	660	3	ZDBF2	2	207169902	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3129957	207169902	36029471	478	6030											
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	207170268	207170268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttttctaacatggattGtacccaagaagaaaagcatt	6	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207170268G>A	ENST00000374423.3	+	5	1402	c.1016G>A	c.(1015-1017)tGt>tAt	p.C339Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	339							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACATGGATTGTACCCAAGAA	0.358																																					p.C339Y		.											.	ZDBF2-3	0			c.G1016A						.						51	51	51					2																	207170268		1832	4083	5915	SO:0001583	missense	57683	exon5			TGGATTGTACCCA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1016G>A	2.37:g.207170268G>A	ENSP00000363545:p.Cys339Tyr	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	46	13	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.147	-0.395402	0.04899	.	.	ENSG00000204186	ENST00000374423	T	0.44083	0.93	4.8	-9.61	0.00550	.	2.158240	0.02293	N	0.070501	T	0.20333	0.0489	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09443	-1.0674	10	0.16420	T	0.52	.	3.0404	0.06137	0.5192:0.2059:0.1075:0.1673	.	339	Q9HCK1	ZDBF2_HUMAN	Y	339	ENSP00000363545:C339Y	ENSP00000363545:C339Y	C	+	2	0	ZDBF2	206878513	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-3.440000	0.00470	-1.690000	0.01432	-0.355000	0.07637	TGT	.		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207170268	G	A	207170268	3	1	31	1	0	0	0	0	1	0	0	0	17647	1377	48	3	1026	3	ZDBF2	2	207170268	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	366	207170268	36029105	479	6031											
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207174022	207174022	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattgtaaagcctctacTccctcaatgacaaaccaatg	5	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207174022T>G	ENST00000374423.3	+	5	5156	c.4770T>G	c.(4768-4770)acT>acG	p.T1590T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1590							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGCCTCTACTCCCTCAATGA	0.353																																					p.T1590T		.											.	ZDBF2-3	0			c.T4770G						.						21	22	22					2																	207174022		1830	4073	5903	SO:0001819	synonymous_variant	57683	exon5			CTCTACTCCCTCA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4770T>G	2.37:g.207174022T>G		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	46	18	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																			.		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207174022	T	G	207174022	2	3	31	1	0	0	0	0	0	0	0	1	17647	1538	54	5		5	ZDBF2	2	207174022	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3754	207174022	36025351	480	6032											
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207174333	207174333	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtcttcggaaggatccaaGaaatgctggcctaaaaggta	11	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207174333G>T	ENST00000374423.3	+	5	5467	c.5081G>T	c.(5080-5082)aGa>aTa	p.R1694I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1694							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGATCCAAGAAATGCTGGC	0.448																																					p.R1694I		.											.	ZDBF2-3	0			c.G5081T						.						80	80	80					2																	207174333		1931	4124	6055	SO:0001583	missense	57683	exon5			ATCCAAGAAATGC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5081G>T	2.37:g.207174333G>T	ENSP00000363545:p.Arg1694Ile	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	69	28	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810649	0.32053	.	.	ENSG00000204186	ENST00000374423	T	0.47528	0.84	4.06	0.205	0.15204	.	.	.	.	.	T	0.24586	0.0596	N	0.22421	0.69	0.09310	N	1	P	0.35011	0.48	B	0.25291	0.059	T	0.14896	-1.0456	9	0.56958	D	0.05	.	2.3106	0.04185	0.4316:0.0:0.3367:0.2317	.	1694	Q9HCK1	ZDBF2_HUMAN	I	1694	ENSP00000363545:R1694I	ENSP00000363545:R1694I	R	+	2	0	ZDBF2	206882578	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.046000	0.11983	0.026000	0.15269	0.655000	0.94253	AGA	.		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207174333	G	T	207174333	3	4	31	1	0	0	0	0	1	0	0	0	17647	942	33	3	5091	3	ZDBF2	2	207174333	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	311	207174333	36025040	481	6033											
ADAM23	8745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207454220	207454220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggaaggatggagaccggtGgattcagtgcagcaaacagt	16	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207454220G>T	ENST00000264377.3	+	21	2268	c.1940G>T	c.(1939-1941)tGg>tTg	p.W647L	ADAM23_ENST00000374415.3_Missense_Mutation_p.W647L|ADAM23_ENST00000374416.1_Missense_Mutation_p.W647L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	647					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAGACCGGTGGATTCAGTGC	0.478																																					p.W647L	Melanoma(194;1127 2130 19620 24042 27855)	.											.	ADAM23-228	0			c.G1940T						.						84	82	83					2																	207454220		2203	4300	6503	SO:0001583	missense	8745	exon21			ACCGGTGGATTCA	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1940G>T	2.37:g.207454220G>T	ENSP00000264377:p.Trp647Leu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	104	38	NM_003812	0	0	0	0	0	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834046	0.91036	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20069	2.1;2.1;2.1	5.72	5.72	0.89469	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000018	T	0.47097	0.1427	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23726	-1.0180	10	0.49607	T	0.09	.	19.8709	0.96851	0.0:0.0:1.0:0.0	.	647	O75077	ADA23_HUMAN	L	647;647;541;647	ENSP00000264377:W647L;ENSP00000363537:W647L;ENSP00000363536:W647L	ENSP00000264377:W647L	W	+	2	0	ADAM23	207162465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.837000	0.99465	2.698000	0.92095	0.591000	0.81541	TGG	.		0.478	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		T	207454220	G	T	207454220	3	4	31	1	0	0	0	0	1	0	0	0	245	1357	47	3	2022	3	ADAM23	2	207454220	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	279887	207454220	35745153	482	6034											
DYTN	391475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207527859	207527859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcatcttttgtgtttgGctttgtgccctggtgctgtg	14	7	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207527859G>T	ENST00000452335.2	-	11	1517	c.1401C>A	c.(1399-1401)agC>agA	p.S467R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	467						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTTGTGTTTGGCTTTGTGCCC	0.483																																					p.S467R		.											.	DYTN-23	0			c.C1401A						.						189	178	181					2																	207527859		2018	4186	6204	SO:0001583	missense	391475	exon11			TGTTTGGCTTTGT	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1401C>A	2.37:g.207527859G>T	ENSP00000396593:p.Ser467Arg	Somatic	264	0		WXS	Illumina GAIIx	Phase_I	307	100	NM_001093730	0	0	0	0	0		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608374	0.28623	.	.	ENSG00000232125	ENST00000452335	T	0.20598	2.06	5.12	0.0497	0.14290	.	.	.	.	.	T	0.14700	0.0355	N	0.24115	0.695	0.09310	N	1	P	0.48162	0.906	P	0.47402	0.546	T	0.22138	-1.0225	9	0.14252	T	0.57	-0.454	7.2863	0.26342	0.5491:0.0:0.4509:0.0	.	467	A2CJ06	DYTN_HUMAN	R	467	ENSP00000396593:S467R	ENSP00000396593:S467R	S	-	3	2	DYTN	207236104	0.001000	0.12720	0.005000	0.12908	0.019000	0.09904	-0.107000	0.10873	0.088000	0.17205	-0.143000	0.13931	AGC	.		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			T	207527859	G	T	207527859	3	4	31	1	0	0	0	0	1	0	0	0	4875	1194	42	3	343	3	DYTN	2	207527859	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	73639	207527859	35671514	483	6035											
FASTKD2	22868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207655353	207655353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggttcaagccaccccagAggattccttgctatgaaaat	9	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207655353A>G	ENST00000236980.6	+	11	2304	c.1956A>G	c.(1954-1956)agA>agG	p.R652R	FASTKD2_ENST00000402774.3_Silent_p.R652R|FASTKD2_ENST00000403094.3_Silent_p.R652R	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	652	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCACCCCAGAGGATTCCTTG	0.343																																					p.R652R		.											.	FASTKD2-118	0			c.A1956G						.						168	170	169					2																	207655353		2203	4300	6503	SO:0001819	synonymous_variant	22868	exon11			CCCCAGAGGATTC	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1956A>G	2.37:g.207655353A>G		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	59	13	NM_001136193	0	0	0	0	0	Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																			.		0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		G	207655353	A	G	207655353	2	3	31	1	0	0	0	0	0	0	0	1	5708	301	11	4		4	FASTKD2	2	207655353	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	127494	207655353	35544020	484	6036											
CRYGC	1420	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	208992943	208992943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttaatacaaatccaccActctccgcaaagagcctgcc	4	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:208992943A>G	ENST00000282141.3	-	3	546	c.509T>C	c.(508-510)gTg>gCg	p.V170A		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	170	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CAAATCCACCACTCTCCGCAA	0.493																																					p.V170A		.											.	CRYGC-90	0			c.T509C						.						87	99	95					2																	208992943		2203	4300	6503	SO:0001583	missense	1420	exon3			TCCACCACTCTCC		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.509T>C	2.37:g.208992943A>G	ENSP00000282141:p.Val170Ala	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	102	40	NM_020989	0	0	0	0	0	Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	A	9.512	1.105993	0.20632	.	.	ENSG00000163254	ENST00000282141	T	0.78364	-1.17	4.85	1.1	0.20463	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.133547	0.50627	D	0.000117	T	0.71358	0.3330	M	0.61703	1.905	0.26314	N	0.977789	B	0.20052	0.041	B	0.28709	0.093	T	0.60005	-0.7347	10	0.34782	T	0.22	.	7.7209	0.28731	0.7365:0.0:0.2635:0.0	.	170	P07315	CRGC_HUMAN	A	170	ENSP00000282141:V170A	ENSP00000282141:V170A	V	-	2	0	CRYGC	208701188	0.040000	0.19996	0.991000	0.47740	0.460000	0.32559	2.356000	0.44116	0.015000	0.14971	-0.467000	0.05162	GTG	.		0.493	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		G	208992943	A	G	208992943	3	3	31	1	0	0	0	0	1	0	0	0	3923	159	6	4	19	4	CRYGC	2	208992943	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1337590	208992943	34206430	485	6037											
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	211457659	211457659	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagttccacccagaggtcacCccggggccaatagacactga	10	15	1	3	rs148322072		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211457659C>G	ENST00000233072.5	+	11	1339	c.1143C>G	c.(1141-1143)acC>acG	p.T381T	CPS1_ENST00000451903.2_5'Flank|CPS1_ENST00000430249.2_Silent_p.T387T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	381	Glutamine amidotransferase type-1.				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)	CAGAGGTCACCCCGGGGCCAA	0.408																																					p.T387T		.											.	CPS1-162	0			c.C1161G						.						113	120	118					2																	211457659		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon12			GGTCACCCCGGGG	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.1143C>G	2.37:g.211457659C>G		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	48	21	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			C|1.000;T|0.000		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211457659	C	G	211457659	2	3	31	1	0	0	0	0	0	0	0	1	3830	610	22	3		3	CPS1	2	211457659	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2464716	211457659	31741714	486	6038											
CPS1	1373	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	211512667	211512667	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctatacaagaatggtgtcaaGatcatgggcacaagccccct	9	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211512667G>T	ENST00000233072.5	+	26	3418	c.3222G>T	c.(3220-3222)aaG>aaT	p.K1074N	CPS1_ENST00000451903.2_Missense_Mutation_p.K623N|CPS1_ENST00000430249.2_Missense_Mutation_p.K1080N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1074					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)	ATGGTGTCAAGATCATGGGCA	0.512																																					p.K1080N		.											.	CPS1-162	0			c.G3240T						.						111	104	106					2																	211512667		2203	4300	6503	SO:0001583	missense	1373	exon27			TGTCAAGATCATG	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.3222G>T	2.37:g.211512667G>T	ENSP00000233072:p.Lys1074Asn	Somatic	459	2		WXS	Illumina GAIIx	Phase_I	475	148	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126911	0.37533	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97642	-4.47;-4.47;-4.47	5.99	5.06	0.68205	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.043343	0.85682	D	0.000000	D	0.92289	0.7554	N	0.25890	0.77	0.48135	D	0.999599	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	D	0.86401	0.1742	10	0.37606	T	0.19	-7.6746	6.7188	0.23318	0.1392:0.0:0.7114:0.1493	.	1084;1074	Q59HF8;P31327	.;CPSM_HUMAN	N	1080;1082;1074;623	ENSP00000402608:K1080N;ENSP00000233072:K1074N;ENSP00000406136:K623N	ENSP00000233072:K1074N	K	+	3	2	CPS1	211220912	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.806000	0.38892	2.840000	0.97914	0.655000	0.94253	AAG	.		0.512	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211512667	G	T	211512667	3	4	31	1	0	0	0	0	1	0	0	0	3830	933	33	3	3346	3	CPS1	2	211512667	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	55008	211512667	31686706	487	6039											
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	211527846	211527846	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttttttttttccaacaGgctcccatgttttcctggcc	6	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211527846G>T	ENST00000233072.5	+	33	4123		c.e33-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						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)	TTTTCCAACAGGCTCCCATGT	0.403																																					.		.											.	CPS1-162	0			c.3946-1G>T						.						37	40	39					2																	211527846		2203	4300	6503	SO:0001630	splice_region_variant	1373	exon34			CCAACAGGCTCCC	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.3928-1G>T	2.37:g.211527846G>T		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	41	12	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571093	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5994	0.95554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211236091	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.396000	0.97270	2.699000	0.92147	0.655000	0.94253	.	.		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	T	211527846	G	T	211527846	5	4	31	1	0	0	0	0	0	0	1	0	3830	1014	35	3	4079	3	CPS1	2	211527846	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15179	211527846	31671527	488	6040											
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	212285242	212285242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggaccaagtactccTcagcatccatcatatcttcc	6	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212285242T>A	ENST00000342788.4	-	25	3369	c.3059A>T	c.(3058-3060)gAg>gTg	p.E1020V	ERBB4_ENST00000402597.1_Missense_Mutation_p.E1010V|ERBB4_ENST00000436443.1_Missense_Mutation_p.E1020V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1020					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)	CAAGTACTCCTCAGCATCCAT	0.408										TSP Lung(8;0.080)																											p.E1020V		.											.	ERBB4-1461	0			c.A3059T						.						105	95	98					2																	212285242		2203	4300	6503	SO:0001583	missense	2066	exon25			TACTCCTCAGCAT	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.3059A>T	2.37:g.212285242T>A	ENSP00000342235:p.Glu1020Val	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	76	38	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	31	5.074316	0.94000	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.77358	-1.08;-1.07;-1.09	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.099468	0.64402	D	0.000002	T	0.81517	0.4839	L	0.55213	1.73	0.80722	D	1	D;B;D;D	0.57899	0.98;0.117;0.98;0.981	P;B;P;P	0.52109	0.663;0.138;0.663;0.69	D	0.83705	0.0184	10	0.87932	D	0	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1010;1010;1020;1020	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	1020;1020;1010	ENSP00000342235:E1020V;ENSP00000403204:E1020V;ENSP00000385565:E1010V	ENSP00000342235:E1020V	E	-	2	0	ERBB4	211993487	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.010000	0.88615	2.243000	0.73865	0.533000	0.62120	GAG	.		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212285242	T	A	212285242	3	1	31	1	0	0	0	0	1	0	0	0	5225	1551	54	5	883	5	ERBB4	2	212285242	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	757396	212285242	30914131	489	6041											
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	212578300	212578300	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaggtttacacattttaatCccattttcttctacttccat	2	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212578300C>A	ENST00000342788.4	-	8	1267	c.957G>T	c.(955-957)ggG>ggT	p.G319G	ERBB4_ENST00000402597.1_Silent_p.G319G|ERBB4_ENST00000436443.1_Silent_p.G319G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	319	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)	ACATTTTAATCCCATTTTCTT	0.358										TSP Lung(8;0.080)																											p.G319G		.											.	ERBB4-1461	0			c.G957T						.						134	130	132					2																	212578300		2203	4300	6503	SO:0001819	synonymous_variant	2066	exon8			TTTAATCCCATTT	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.957G>T	2.37:g.212578300C>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	99	38	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680628	0.14907	.	.	ENSG00000178568	ENST00000260943	D	0.84070	-1.8	5.57	-6.18	0.02085	.	0.149763	0.64402	D	0.000010	T	0.78162	0.4240	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	T	0.70432	-0.4873	7	0.87932	D	0	.	1.89	0.03246	0.2403:0.1341:0.1584:0.4672	.	.	.	.	V	319	ENSP00000260943:G319V	ENSP00000260943:G319V	G	-	2	0	ERBB4	212286545	0.004000	0.15560	0.821000	0.32701	0.985000	0.73830	-1.551000	0.02178	-1.174000	0.02754	-0.911000	0.02809	GGA	.		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212578300	C	A	212578300	2	1	31	1	0	0	0	0	0	0	0	1	5225	842	30	3		3	ERBB4	2	212578300	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	293058	212578300	30621073	490	6042											
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	212589908	212589908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacattgttctgcacacaCcgtccttgtcactgcagaag	8	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212589908C>A	ENST00000342788.4	-	6	944	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	ERBB4_ENST00000402597.1_Missense_Mutation_p.V212L|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.V212L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	212	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)	TCTGCACACACCGTCCTTGTC	0.512										TSP Lung(8;0.080)																											p.V212L		.											.	ERBB4-1461	0			c.G634T						.						135	118	124					2																	212589908		2203	4300	6503	SO:0001583	missense	2066	exon6			CACACACCGTCCT	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.634G>T	2.37:g.212589908C>A	ENSP00000342235:p.Val212Leu	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	189	81	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549339	0.65311	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.27890	1.64;1.64;1.64	5.73	5.73	0.89815	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.71296	2.17	0.54753	D	0.999988	D;B;P;D;D	0.60575	0.986;0.185;0.952;0.986;0.988	D;B;P;D;D	0.72982	0.961;0.056;0.52;0.961;0.979	T	0.55075	-0.8197	10	0.51188	T	0.08	.	19.8973	0.96972	0.0:1.0:0.0:0.0	.	212;212;71;212;212	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	L	212	ENSP00000342235:V212L;ENSP00000403204:V212L;ENSP00000385565:V212L	ENSP00000342235:V212L	V	-	1	0	ERBB4	212298153	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	6.089000	0.71384	2.710000	0.92621	0.650000	0.86243	GTG	.		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212589908	C	A	212589908	3	1	31	1	0	0	0	0	1	0	0	0	5225	507	18	3	3384	3	ERBB4	2	212589908	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11608	212589908	30609465	491	6043											
ERBB4	2066	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	212812187	212812187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttaatccaagttcttgaagtCcaaagtttccatcttttctg	5	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212812187C>A	ENST00000342788.4	-	3	699	c.389G>T	c.(388-390)gGa>gTa	p.G130V	ERBB4_ENST00000402597.1_Missense_Mutation_p.G130V|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.G130V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	130					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.G130E(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)	TTCTTGAAGTCCAAAGTTTCC	0.343										TSP Lung(8;0.080)																											p.G130V		.											.	ERBB4-1461	1	Substitution - Missense(1)	lung(1)	c.G389T						.						120	117	118					2																	212812187		2203	4300	6503	SO:0001583	missense	2066	exon3			TGAAGTCCAAAGT	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.389G>T	2.37:g.212812187C>A	ENSP00000342235:p.Gly130Val	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	116	44	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.655227|4.655227	0.88056|0.88056	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	.|T;T;T;T	.|0.79554	.|-0.94;-0.94;-0.94;-1.28	5.54|5.54	5.54|5.54	0.83059|0.83059	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91754|0.91754	0.7392|0.7392	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.996;1.0;1.0	D|D	0.92838|0.92838	0.6286|0.6286	5|10	.|0.87932	.|D	.|0	.|.	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;130;130;130	.|Q15303-4;Q15303-2;Q15303-3;Q15303	.|.;.;.;ERBB4_HUMAN	Y|V	130|130;130;130;71	.|ENSP00000342235:G130V;ENSP00000403204:G130V;ENSP00000385565:G130V;ENSP00000405564:G71V	.|ENSP00000342235:G130V	D|G	-|-	1|2	0|0	ERBB4|ERBB4	212520432|212520432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.818000|7.818000	0.86416|0.86416	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GAC|GGA	.		0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212812187	C	A	212812187	3	1	31	1	0	0	0	0	1	0	0	0	5225	855	30	3	3641	3	ERBB4	2	212812187	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	222279	212812187	30387186	492	6044											
PRKAG3	53632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219695074	219695074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtggcctccagcccgGtggactcagcagctggcctg	15	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:219695074G>A	ENST00000529249.1	-	4	575	c.260C>T	c.(259-261)aCc>aTc	p.T87I	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T62I|PRKAG3_ENST00000392098.3_Missense_Mutation_p.T87I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	87					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CTCCAGCCCGGTGGACTCAGC	0.627																																					p.T87I		.											.	PRKAG3-659	0			c.C260T						.						30	35	33					2																	219695074		2202	4291	6493	SO:0001583	missense	53632	exon4			AGCCCGGTGGACT	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.260C>T	2.37:g.219695074G>A	ENSP00000436068:p.Thr87Ile	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	203	63	NM_017431	0	0	0	0	0	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913510	0.52439	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098;ENST00000430489	D;D;T;T	0.82081	-1.55;-1.57;0.22;0.86	5.54	4.6	0.57074	.	0.490068	0.17346	N	0.177576	T	0.75436	0.3849	L	0.32530	0.975	0.26690	N	0.971369	B;B;B	0.31931	0.347;0.011;0.007	B;B;B	0.34652	0.187;0.027;0.012	T	0.66878	-0.5812	10	0.41790	T	0.15	-18.0244	10.2957	0.43623	0.1011:0.0:0.8989:0.0	.	87;62;87	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	I	62;87;87;83	ENSP00000397133:T62I;ENSP00000436068:T87I;ENSP00000375947:T87I;ENSP00000416100:T83I	ENSP00000233944:T87I	T	-	2	0	PRKAG3	219403318	0.901000	0.30685	0.858000	0.33744	0.921000	0.55340	2.401000	0.44513	1.216000	0.43427	0.655000	0.94253	ACC	.		0.627	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			A	219695074	G	A	219695074	3	1	31	1	0	0	0	0	1	0	0	0	12544	1261	44	3	1249	3	PRKAG3	2	219695074	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6882887	219695074	23504299	493	6045											
WNT10A	80326	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219746981	219746981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcctgagccggcggcAgatggaggtgtgtgtgcgtc	19	10	0	2	rs368943130		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:219746981A>G	ENST00000258411.3	+	2	845	c.212A>G	c.(211-213)cAg>cGg	p.Q71R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	71					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCGGCGGCAGATGGAGGTG	0.612																																					p.Q71R		.											.	WNT10A-523	0			c.A212G						.						91	85	87					2																	219746981		2203	4300	6503	SO:0001583	missense	80326	exon2			GGCGGCAGATGGA	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.212A>G	2.37:g.219746981A>G	ENSP00000258411:p.Gln71Arg	Somatic	248	1		WXS	Illumina GAIIx	Phase_I	312	112	NM_025216	0	0	0	0	0	Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508137	0.85282	.	.	ENSG00000135925	ENST00000258411	T	0.79247	-1.25	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94076	0.7340	10	0.87932	D	0	.	13.5718	0.61851	1.0:0.0:0.0:0.0	.	71	Q9GZT5	WN10A_HUMAN	R	71	ENSP00000258411:Q71R	ENSP00000258411:Q71R	Q	+	2	0	WNT10A	219455225	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.881000	0.92415	1.809000	0.52856	0.379000	0.24179	CAG	.		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		G	219746981	A	G	219746981	3	3	31	1	0	0	0	0	1	0	0	0	17431	188	7	4	218	4	WNT10A	2	219746981	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	51907	219746981	23452392	494	6046											
ANKZF1	55139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220098512	220098512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtacaatactgttgcgtgctCcccgctctggccggtctttg	11	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220098512C>G	ENST00000323348.5	+	8	1069	c.895C>G	c.(895-897)Ccc>Gcc	p.P299A	ANKZF1_ENST00000409849.1_Missense_Mutation_p.P89A|ANKZF1_ENST00000410034.3_Missense_Mutation_p.P299A|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	299						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGCGTGCTCCCCGCTCTGG	0.607																																					p.P299A		.											.	ANKZF1-92	0			c.C895G						.						91	96	94					2																	220098512		1974	4145	6119	SO:0001583	missense	55139	exon8			CGTGCTCCCCGCT	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.895C>G	2.37:g.220098512C>G	ENSP00000321617:p.Pro299Ala	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	115	23	NM_001042410	0	0	0	0	0	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364659	0.82463	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.32988	1.43;1.71;1.43	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.47873	-0.9083	10	0.42905	T	0.14	-15.8807	18.7753	0.91908	0.0:1.0:0.0:0.0	.	243;89;299	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	A	299;89;299	ENSP00000321617:P299A;ENSP00000386815:P89A;ENSP00000386337:P299A	ENSP00000321617:P299A	P	+	1	0	ANKZF1	219806756	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	7.141000	0.77330	2.655000	0.90218	0.655000	0.94253	CCC	.		0.607	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		G	220098512	C	G	220098512	3	3	31	1	0	0	0	0	1	0	0	0	693	855	30	3	921	3	ANKZF1	2	220098512	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	351531	220098512	23100861	495	6047											
PTPRN	5798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	220159708	220159708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcacctgcggaagtcCagcaggggccgcgtggaggc	17	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220159708C>T	ENST00000295718.2	-	19	2904	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	PTPRN_ENST00000423636.2_Silent_p.L798L|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.L859L|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	888	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCGGAAGTCCAGCAGGGGCC	0.756																																					p.L888L		.											.	PTPRN-229	0			c.G2664A						.						18	23	21					2																	220159708		2187	4291	6478	SO:0001819	synonymous_variant	5798	exon19			GAAGTCCAGCAGG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2664G>A	2.37:g.220159708C>T		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	109	40	NM_002846	0	0	0	0	0	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686732	0.29962	.	.	ENSG00000054356	ENST00000443981	.	.	.	5.18	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0404	0.42155	0.0:0.5307:0.3961:0.0732	.	.	.	.	X	91	.	.	W	-	2	0	PTPRN	219867952	0.945000	0.32115	1.000000	0.80357	0.998000	0.95712	0.071000	0.14594	0.744000	0.32741	0.637000	0.83480	TGG	.		0.756	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			T	220159708	C	T	220159708	2	4	31	1	0	0	0	0	0	0	0	1	12852	581	21	3		3	PTPRN	2	220159708	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	61196	220159708	23039665	496	6048											
PTPRN	5798	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220172174	220172174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaccttaccttgggacAtgagttgtcggagcacacct	10	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220172174A>C	ENST00000295718.2	-	3	512	c.272T>G	c.(271-273)aTg>aGg	p.M91R	PTPRN_ENST00000423636.2_Start_Codon_SNP_p.M1R|PTPRN_ENST00000409251.3_Missense_Mutation_p.M91R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	91					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACCTTGGGACATGAGTTGTCG	0.532																																					p.M91R		.											.	PTPRN-229	0			c.T272G						.						66	64	65					2																	220172174		2203	4300	6503	SO:0001583	missense	5798	exon3			TGGGACATGAGTT		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.272T>G	2.37:g.220172174A>C	ENSP00000295718:p.Met91Arg	Somatic	55	1		WXS	Illumina GAIIx	Phase_I	57	22	NM_002846	0	0	0	0	0	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871492	0.72065	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.06687	3.76;3.83;3.27	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000003	T	0.22044	0.0531	L	0.55481	1.735	0.80722	D	1	P;D	0.55800	0.86;0.973	P;D	0.66196	0.692;0.942	T	0.00281	-1.1851	10	0.52906	T	0.07	.	12.6563	0.56790	1.0:0.0:0.0:0.0	.	91;91	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	91;91;91;1;91;1;1;58;1;1	ENSP00000386638:M91R;ENSP00000295718:M91R;ENSP00000444244:M1R	ENSP00000295718:M91R	M	-	2	0	PTPRN	219880418	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.600000	0.46240	1.972000	0.57404	0.377000	0.23210	ATG	.		0.532	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			C	220172174	A	C	220172174	3	2	31	1	0	0	0	0	1	0	0	0	12852	217	8	5	2751	5	PTPRN	2	220172174	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	12466	220172174	23027199	497	6049											
DNPEP	23549	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	220239604	220239605	+	Missense_Mutation	DNP	TC	TC	AT													agggtgagggtctggaggacTcctgtggtgcaggccatctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220239604_220239605TC>AT	ENST00000273075.4	-	14	1599_1600	c.1379_1380GA>AT	c.(1378-1380)gGA>gAT	p.G460D	DNPEP_ENST00000373972.1_Missense_Mutation_p.G385D|DNPEP_ENST00000523282.1_Missense_Mutation_p.G468D|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	450					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGAGGACTCCTGTGGTGCA	0.609																																					p.G468D		.											.	DNPEP-90	0			c.G1379A						.																																			SO:0001583	missense	23549	exon14			AGGACTCCTGTGG		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1379_1380delinsAT	2.37:g.220239604_220239605delinsAT	ENSP00000273075:p.Gly460Asp	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	121	0	NM_012100	0	0	0	0	0	Q9BW44|Q9NUV5	Missense_Mutation	DNP	ENST00000273075.4	37	CCDS42823.1																																																																																			.		0.609	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		AT	220239605	TC	AT	220239604	3	1	31	1	0	0	0	0	1	0	0	0	4693	1538	54	5	85	5	DNPEP	2	220239604	Missense_Mutation	DNP	TC	TCGA-OR-A5KB-01A-11D-A30A-10	67430	220239604	22959769	498	6050											
ACCN4	55515	ucsc.edu;bcgsc.ca	37	chr2	220379239	220379239	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcagaggcagcagcgGcagaggcagcaccagggctg	18	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220379239G>T	ENST00000347842.3	+	1	188	c.174G>T	c.(172-174)cgG>cgT	p.R58R	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Silent_p.R58R	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	58					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)										ggcagcagcggcagaggcagc	0.657																																					p.R58R		.											.	.	0			c.G174T						.						16	14	15					2																	220379239		2063	4054	6117	SO:0001819	synonymous_variant	55515	exon1			GCAGCGGCAGAGG	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.174G>T	2.37:g.220379239G>T		Somatic	203	2		WXS	Illumina GAIIx	Phase_I	359	129	NM_182847	0	0	0	0	0	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																			.		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		T	220379239	G	T	220379239	2	4	31	1	0	0	0	0	0	0	0	1	131	1190	42	3		3	ACCN4	2	220379239	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	139635	220379239	22820134	499	6051											
CHPF	79586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220405282	220405282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaagcgggaggccgggCgggatggtgctggaataccc	17	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220405282C>A	ENST00000243776.6	-	4	1399	c.1151G>T	c.(1150-1152)cGc>cTc	p.R384L	CHPF_ENST00000535926.1_Missense_Mutation_p.R222L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	384					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAGGCCGGGCGGGATGGTGC	0.642																																					p.R384L		.											.	CHPF-90	0			c.G1151T						.						21	24	23					2																	220405282		2202	4300	6502	SO:0001583	missense	79586	exon4			GCCGGGCGGGATG	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1151G>T	2.37:g.220405282C>A	ENSP00000243776:p.Arg384Leu	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	191	61	NM_024536	0	0	0	0	0	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409810	0.42715	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.41	3.53	0.40419	.	0.184216	0.39909	N	0.001230	T	0.14442	0.0349	L	0.48642	1.525	0.38461	D	0.9472	B	0.19331	0.035	B	0.26094	0.066	T	0.08411	-1.0723	10	0.41790	T	0.15	-19.8944	5.2582	0.15558	0.0:0.6393:0.0:0.3607	.	384	Q8IZ52	CHSS2_HUMAN	L	384;222	ENSP00000243776:R384L;ENSP00000445571:R222L	ENSP00000243776:R384L	R	-	2	0	CHPF	220113526	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	2.583000	0.46094	1.230000	0.43646	0.561000	0.74099	CGC	.		0.642	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		A	220405282	C	A	220405282	3	1	31	1	0	0	0	0	1	0	0	0	3375	768	27	2	1180	2	CHPF	2	220405282	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	26043	220405282	22794091	500	6052											
OBSL1	23363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220419228	220419228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctggctgcgcagcgcaggGaatccgctgtgaaggagaca	16	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220419228G>T	ENST00000404537.1	-	15	4900	c.4844C>A	c.(4843-4845)tCc>tAc	p.S1615Y	OBSL1_ENST00000373876.1_Missense_Mutation_p.S1523Y|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1615					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGCGCAGGGAATCCGCTGT	0.617																																					p.S1615Y		.											.	OBSL1-71	0			c.C4844A						.						37	46	43					2																	220419228		2149	4226	6375	SO:0001583	missense	23363	exon15			CGCAGGGAATCCG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4844C>A	2.37:g.220419228G>T	ENSP00000385636:p.Ser1615Tyr	Somatic	318	1		WXS	Illumina GAIIx	Phase_I	384	130	NM_015311	0	0	0	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009348	0.54361	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.44482	0.92;0.92	3.84	3.84	0.44239	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39784	0.1091	L	0.36672	1.1	0.45621	D	0.998557	P	0.34837	0.472	B	0.41088	0.347	T	0.44221	-0.9342	9	0.62326	D	0.03	.	13.4058	0.60913	0.0:0.1581:0.8419:0.0	.	1615	O75147	OBSL1_HUMAN	Y	1615;1523	ENSP00000385636:S1615Y;ENSP00000362983:S1523Y	ENSP00000362983:S1523Y	S	-	2	0	OBSL1	220127472	0.129000	0.22400	0.878000	0.34440	0.976000	0.68499	2.847000	0.48270	1.968000	0.57251	0.556000	0.70494	TCC	.		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220419228	G	T	220419228	3	4	31	1	0	0	0	0	1	0	0	0	10852	1174	41	3	874	3	OBSL1	2	220419228	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	13946	220419228	22780145	501	6053											
OBSL1	23363	hgsc.bcm.edu	37	chr2	220435375	220435375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccgccaggatgcgcaGtgccaggctcgcgccggggc	17	16	0	0	rs1061399	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220435375G>A	ENST00000404537.1	-	1	636	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	OBSL1_ENST00000603926.1_Silent_p.L194L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_Intron|OBSL1_ENST00000373876.1_Silent_p.L194L|OBSL1_ENST00000373873.4_Silent_p.L194L|OBSL1_ENST00000289656.3_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000265318.4_Silent_p.L194L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	194	Ig-like 2.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGATGCGCAGTGCCAGGCTC	0.746													G|||	1797	0.358826	0.1331	0.3242	5008	,	,		9816	0.5069		0.4632	False		,,,				2504	0.4284				p.L194L		.											.	OBSL1-71	0			c.C580T						.	G	,,	373,2241		59,255,993	2	3	3		580,580,580	2.9	1	2	dbSNP_86	3	2075,3541		472,1131,1205	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	531,1386,2198	AA,AG,GG		36.948,14.2693,29.7448	,,	194/1026,194/1544,194/1897	220435375	2448,5782	1307	2808	4115	SO:0001819	synonymous_variant	23363	exon1			TGCGCAGTGCCAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.580C>T	2.37:g.220435375G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001173431	0	0	0	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			G|0.621;A|0.379		0.746	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			A	220435375	G	A	220435375	2	1	31	1	0	0	0	0	0	0	0	1	10852	1020	36	3		3	OBSL1	2	220435375	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	16147	220435375	22763998	502	6054											
SLC4A3	6508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220493241	220493241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctcatcagcaagcccccgGcctgggaccccgagaagccc	10	19	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220493241G>T	ENST00000358055.3	+	3	678	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A56S|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A56S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A56S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A56S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	56					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCCCCCGGCCTGGGACCC	0.657																																					p.A56S		.											.	SLC4A3-157	0			c.G166T						.						38	42	41					2																	220493241		2203	4299	6502	SO:0001583	missense	6508	exon3			CCCCCGGCCTGGG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.166G>T	2.37:g.220493241G>T	ENSP00000350756:p.Ala56Ser	Somatic	316	0		WXS	Illumina GAIIx	Phase_I	467	161	NM_005070	0	0	0	0	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350805	0.05173	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.72167	-0.61;-0.61;-0.63;-0.63;-0.61	3.85	3.85	0.44370	.	0.508491	0.19817	N	0.105406	T	0.42607	0.1210	N	0.11313	0.125	0.22142	N	0.999339	B;B	0.13145	0.004;0.007	B;B	0.13407	0.002;0.009	T	0.33675	-0.9859	10	0.02654	T	1	.	6.7363	0.23411	0.0:0.1783:0.6054:0.2162	.	56;56	P48751;P48751-3	B3A3_HUMAN;.	S	56	ENSP00000350756:A56S;ENSP00000362865:A56S;ENSP00000273063:A56S;ENSP00000362867:A56S;ENSP00000314006:A56S	ENSP00000273063:A56S	A	+	1	0	SLC4A3	220201485	0.545000	0.26449	0.984000	0.44739	0.928000	0.56348	0.910000	0.28571	1.975000	0.57531	0.313000	0.20887	GCC	.		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		T	220493241	G	T	220493241	3	4	31	1	0	0	0	0	1	0	0	0	14700	1203	42	3	172	3	SLC4A3	2	220493241	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	57866	220493241	22706132	503	6055											
SCG2	7857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	224463929	224463929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatgaagctgcttcagcCccagagatgaggaaaattaa	10	7	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:224463929C>T	ENST00000305409.2	-	2	304	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGCTTCAGCCCCAGAGATGA	0.438																																					p.G24G		.											.	SCG2-69	0			c.G72A						.						67	72	70					2																	224463929		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			TTCAGCCCCAGAG	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.72G>A	2.37:g.224463929C>T		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	177	63	NM_003469	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																			.		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224463929	C	T	224463929	2	4	31	1	0	0	0	0	0	0	0	1	13936	610	22	3		3	SCG2	2	224463929	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3970688	224463929	18735444	504	6056											
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228858308	228858308	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccagatccataatgccaaGactgctagtggcactactgt	9	11	0	2	rs192502309	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228858308G>T	ENST00000392056.3	-	9	4709	c.4663C>A	c.(4663-4665)Ctt>Att	p.L1555I	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1555						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)		ATAATGCCAAGACTGCTAGTG	0.443													G|||	3	0.000599042	8e-04	0	5008	,	,		20188	0		0.002	False		,,,				2504	0				p.L1555I		.											.	SPHKAP-167	0			c.C4663A						.	G	ILE/LEU,	7,3129		0,7,1561	99	75	82		4663,	4.2	1	2		82	35,7129		0,35,3547	yes	missense,intron	SPHKAP	NM_001142644.1,NM_030623.3	5,	0,42,5108	TT,TG,GG		0.4886,0.2232,0.4078	probably-damaging,	1555/1701,	228858308	42,10258	1568	3582	5150	SO:0001583	missense	80309	exon9			TGCCAAGACTGCT		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.4663C>A	2.37:g.228858308G>T	ENSP00000375909:p.Leu1555Ile	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	200	69	NM_001142644	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	20.5	4.002882	0.74932	0.002232	0.004886	ENSG00000153820	ENST00000392056	T	0.23147	1.92	6.06	4.22	0.49857	.	0.733784	0.10495	U	0.668020	T	0.33030	0.0849	M	0.78637	2.42	0.80722	D	1	B	0.29508	0.246	B	0.28305	0.088	T	0.04029	-1.0983	10	0.48119	T	0.1	.	11.1517	0.48462	0.0:0.1384:0.7173:0.1442	.	1555	Q2M3C7	SPKAP_HUMAN	I	1555	ENSP00000375909:L1555I	ENSP00000375909:L1555I	L	-	1	0	SPHKAP	228566552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	0.839000	0.34971	0.655000	0.94253	CTT	G|0.999;T|0.001		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228858308	G	T	228858308	3	4	31	1	0	0	0	0	1	0	0	0	15095	942	33	3	455	3	SPHKAP	2	228858308	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4394379	228858308	14341065	505	6057											
SPHKAP	80309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228882596	228882596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcttgtgtttcctcaCagcggtcccgctcccctggc	13	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228882596C>A	ENST00000392056.3	-	7	3020	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V992L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	992						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)		TGTTTCCTCACAGCGGTCCCG	0.532																																					p.V992L		.											.	SPHKAP-167	0			c.G2974T						.						79	71	74					2																	228882596		2203	4300	6503	SO:0001583	missense	80309	exon7			TCCTCACAGCGGT		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.2974G>T	2.37:g.228882596C>A	ENSP00000375909:p.Val992Leu	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	105	34	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	7.454	0.643221	0.14451	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13538	2.58;2.58	6.08	2.12	0.27331	.	0.507966	0.22716	N	0.056516	T	0.13543	0.0328	M	0.62723	1.935	0.26418	N	0.976147	B;B;B	0.33826	0.074;0.012;0.427	B;B;B	0.35510	0.043;0.006;0.204	T	0.12344	-1.0551	10	0.36615	T	0.2	.	5.9907	0.19460	0.25:0.5641:0.1206:0.0653	.	23;992;992	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	992	ENSP00000375909:V992L;ENSP00000339886:V992L	ENSP00000339886:V992L	V	-	1	0	SPHKAP	228590840	0.002000	0.14202	0.389000	0.26208	0.183000	0.23260	-0.013000	0.12678	0.459000	0.27016	-0.127000	0.14921	GTG	.		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228882596	C	A	228882596	3	1	31	1	0	0	0	0	1	0	0	0	15095	478	17	3	2152	3	SPHKAP	2	228882596	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	24288	228882596	14316777	506	6058			3	31		6	6	2170	N	T_G_C	1.146512e-06
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228883407	228883407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaatatgactcatcttcttGaacgtgaagcatatcacatc	5	10	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883407G>C	ENST00000392056.3	-	7	2209	c.2163C>G	c.(2161-2163)ttC>ttG	p.F721L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F721L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	721						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)		TCATCTTCTTGAACGTGAAGC	0.438																																					p.F721L		.											.	SPHKAP-167	0			c.C2163G						.						189	170	177					2																	228883407		2203	4300	6503	SO:0001583	missense	80309	exon7			CTTCTTGAACGTG		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.2163C>G	2.37:g.228883407G>C	ENSP00000375909:p.Phe721Leu	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	118	37	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.022	-0.424561	0.04734	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.81;2.81	5.62	5.62	0.85841	.	0.507886	0.24165	N	0.040944	T	0.10723	0.0262	L	0.58101	1.795	0.29469	N	0.857168	B;B	0.15141	0.003;0.012	B;B	0.15484	0.002;0.013	T	0.36040	-0.9764	10	0.02654	T	1	.	12.3639	0.55219	0.0768:0.0:0.9232:0.0	.	721;721	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	721	ENSP00000375909:F721L;ENSP00000339886:F721L	ENSP00000339886:F721L	F	-	3	2	SPHKAP	228591651	1.000000	0.71417	0.871000	0.34182	0.991000	0.79684	0.721000	0.25911	2.805000	0.96524	0.655000	0.94253	TTC	.		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		C	228883407	G	C	228883407	3	2	31	1	0	0	0	0	1	0	0	0	15095	1281	45	3	2963	3	SPHKAP	2	228883407	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	811	228883407	14315966	507	6059			3	31		6	6	2170	N	T_G_C	1.146512e-06
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228883709	228883709	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccagagcagcctcctTgagcaatcccttggcaatgg	9	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883709T>A	ENST00000392056.3	-	7	1907	c.1861A>T	c.(1861-1863)Aag>Tag	p.K621*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K621*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	621						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)		GCAGCCTCCTTGAGCAATCCC	0.512																																					p.K621X		.											.	SPHKAP-167	0			c.A1861T						.						50	49	50					2																	228883709		2202	4300	6502	SO:0001587	stop_gained	80309	exon7			CCTCCTTGAGCAA		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.1861A>T	2.37:g.228883709T>A	ENSP00000375909:p.Lys621*	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	157	57	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	38	6.728643	0.97792	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.84	3.39	0.38822	.	0.378699	0.32204	N	0.006433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.0:0.2687:0.7313	.	.	.	.	X	621	.	ENSP00000339886:K621X	K	-	1	0	SPHKAP	228591953	1.000000	0.71417	0.990000	0.47175	0.892000	0.51952	3.713000	0.54882	0.427000	0.26145	0.533000	0.62120	AAG	.		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228883709	T	A	228883709	4	1	31	1	0	0	0	0	0	1	0	0	15095	1821	63	5	3265	5	SPHKAP	2	228883709	Nonsense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	302	228883709	14315664	508	6060			3	31		6	6	2170	N	T_G_C	1.146512e-06
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228883760	228883760	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctccatgcttgctaaacCacaaagtgggggcatggctt	11	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883760C>G	ENST00000392056.3	-	7	1856	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G604R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	604						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)		CTTGCTAAACCACAAAGTGGG	0.542																																					p.G604R		.											.	SPHKAP-167	0			c.G1810C						.						38	37	37					2																	228883760		2203	4300	6503	SO:0001583	missense	80309	exon7			CTAAACCACAAAG		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.1810G>C	2.37:g.228883760C>G	ENSP00000375909:p.Gly604Arg	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	102	38	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	7.049	0.564140	0.13498	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42513	0.97;0.97	5.63	-2.65	0.06095	.	0.403537	0.32819	N	0.005604	T	0.25082	0.0609	N	0.22421	0.69	0.09310	N	1	B;P	0.36282	0.437;0.546	B;B	0.35073	0.109;0.195	T	0.15464	-1.0436	10	0.62326	D	0.03	.	11.4306	0.50038	0.0:0.4799:0.0:0.5201	.	604;604	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	604	ENSP00000375909:G604R;ENSP00000339886:G604R	ENSP00000339886:G604R	G	-	1	0	SPHKAP	228592004	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	1.127000	0.31357	-0.766000	0.04639	-1.152000	0.01820	GGT	.		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		G	228883760	C	G	228883760	3	3	31	1	0	0	0	0	1	0	0	0	15095	594	21	3	3316	3	SPHKAP	2	228883760	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	51	228883760	14315613	509	6061			3	31		6	6	2170	N	T_G_C	1.146512e-06
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228884194	228884194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtggggcagcatcaCtgccatctggactctgaaca	12	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228884194C>T	ENST00000392056.3	-	7	1422	c.1376G>A	c.(1375-1377)aGt>aAt	p.S459N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S459N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	459						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)		GGCAGCATCACTGCCATCTGG	0.517																																					p.S459N		.											.	SPHKAP-167	0			c.G1376A						.						88	88	88					2																	228884194		2203	4300	6503	SO:0001583	missense	80309	exon7			GCATCACTGCCAT		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.1376G>A	2.37:g.228884194C>T	ENSP00000375909:p.Ser459Asn	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	89	35	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000603	0.19121	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	.	0.281519	0.44483	D	0.000456	T	0.28067	0.0692	M	0.77616	2.38	0.09310	N	1	D;B	0.59767	0.986;0.061	P;B	0.53266	0.722;0.048	T	0.34625	-0.9821	10	0.56958	D	0.05	.	10.0031	0.41940	0.0:0.7884:0.1391:0.0724	.	459;459	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	459	ENSP00000375909:S459N;ENSP00000339886:S459N	ENSP00000339886:S459N	S	-	2	0	SPHKAP	228592438	0.013000	0.17824	0.078000	0.20375	0.403000	0.30841	1.078000	0.30754	2.861000	0.98227	0.655000	0.94253	AGT	.		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228884194	C	T	228884194	3	4	31	1	0	0	0	0	1	0	0	0	15095	565	20	3	3750	3	SPHKAP	2	228884194	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	434	228884194	14315179	510	6062			3	31		6	6	2170	N	T_G_C	1.146512e-06
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228884765	228884765	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttgttgatgtatttgtcttCcaaagcataaagccactttt	6	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228884765C>A	ENST00000392056.3	-	7	851	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E269*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	269						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)		TATTTGTCTTCCAAAGCATAA	0.398																																					p.E269X		.											.	SPHKAP-167	0			c.G805T						.						209	221	217					2																	228884765		2203	4300	6503	SO:0001587	stop_gained	80309	exon7			TGTCTTCCAAAGC		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.805G>T	2.37:g.228884765C>A	ENSP00000375909:p.Glu269*	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	109	34	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355779	0.82243	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.6	2.82	0.32997	.	0.730539	0.14395	N	0.322281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	8.2349	0.31620	0.0:0.7552:0.0:0.2448	.	.	.	.	X	269	.	ENSP00000339886:E269X	E	-	1	0	SPHKAP	228593009	0.949000	0.32298	0.882000	0.34594	0.772000	0.43724	1.910000	0.39927	0.721000	0.32231	0.650000	0.86243	GAA	.		0.398	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228884765	C	A	228884765	4	1	31	1	0	0	0	0	0	1	0	0	15095	864	30	3	4321	3	SPHKAP	2	228884765	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	571	228884765	14314608	511	6063			3	31		6	6	2170	N	T_G_C	1.146512e-06
PID1	55022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	229890643	229890643	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatccatgtgcactgtggccTcccctttgtggtcgagatga	11	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:229890643T>A	ENST00000354069.6	-	3	488	c.458A>T	c.(457-459)gAg>gTg	p.E153V	PID1_ENST00000392054.3_Missense_Mutation_p.E151V|PID1_ENST00000409462.1_Missense_Mutation_p.E71V|PID1_ENST00000392055.3_Missense_Mutation_p.E120V|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	153	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CACTGTGGCCTCCCCTTTGTG	0.592																																					p.E151V		.											.	PID1-94	0			c.A452T						.						118	112	114					2																	229890643		2203	4300	6503	SO:0001583	missense	55022	exon4			GTGGCCTCCCCTT	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.458A>T	2.37:g.229890643T>A	ENSP00000283937:p.Glu153Val	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	254	80	NM_017933	0	0	0	0	0	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37		.	.	.	.	.	.	.	.	.	.	T	19.84	3.901945	0.72754	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	5.55	0.83447	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.44542	1.39	0.58432	D	0.999999	P;P;B;B	0.35745	0.518;0.518;0.4;0.401	B;B;B;B	0.36418	0.224;0.224;0.131;0.076	T	0.48833	-0.9000	8	.	.	.	-33.0815	15.1768	0.72920	0.0:0.0:0.0:1.0	.	71;120;151;153	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	151;71;120;153;153	.	.	E	-	2	0	PID1	229598887	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	5.777000	0.68931	2.234000	0.73211	0.533000	0.62120	GAG	.		0.592	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		A	229890643	T	A	229890643	3	1	31	1	0	0	0	0	1	0	0	0	11921	1551	54	5	298	5	PID1	2	229890643	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1005878	229890643	13308730	512	6064											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	230723756	230723756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtacagtggaggaggcCgaggctacagcagaagacga	18	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:230723756C>G	ENST00000283943.5	-	3	811	c.633G>C	c.(631-633)tcG>tcC	p.S211S	TRIP12_ENST00000409677.1_Silent_p.S253S|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Silent_p.S253S|TRIP12_ENST00000543084.1_Silent_p.S253S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	211					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)		TGGAGGAGGCCGAGGCTACAG	0.547																																					p.S211S		.											.	TRIP12-572	0			c.G633C						.						71	60	64					2																	230723756		2203	4300	6503	SO:0001819	synonymous_variant	9320	exon3			GGAGGCCGAGGCT	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.633G>C	2.37:g.230723756C>G		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	88	27	NM_004238	0	0	0	0	0	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																			.		0.547	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		G	230723756	C	G	230723756	2	3	31	1	0	0	0	0	0	0	0	1	16604	639	23	2		2	TRIP12	2	230723756	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	833113	230723756	12475617	513	6065											
ALPP	250	bcgsc.ca	37	chr2	233245385	233245385	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atccaccgagactccacactGgacccctccctgatggagat	8	16	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233245385G>C	ENST00000392027.2	+	8	1187	c.918G>C	c.(916-918)ctG>ctC	p.L306L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	306					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACTCCACACTGGACCCCTCCC	0.642																																					p.L306L		.											.	ALPP-91	0			c.G918C						.						51	61	57					2																	233245385		2203	4296	6499	SO:0001819	synonymous_variant	250	exon8			CACACTGGACCCC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.918G>C	2.37:g.233245385G>C		Somatic	405	4		WXS	Illumina GAIIx	Phase_I	528	185	NM_001632	0	0	0	0	0	P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	CCDS2490.1																																																																																			.		0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		C	233245385	G	C	233245385	2	2	31	1	0	0	0	0	0	0	0	1	548	1335	47	3		3	ALPP	2	233245385	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2521629	233245385	9953988	514	6066											
ALPPL2	251	broad.mit.edu	37	chr2	233273466	233273466	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atccaccgagactccacactGgacccctccctgatggagat	8	16	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233273466G>C	ENST00000295453.3	+	8	961	c.909G>C	c.(907-909)ctG>ctC	p.L303L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	303					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACTCCACACTGGACCCCTCCC	0.632																																					p.L303L		.											.	ALPPL2-91	0			c.G909C						.						13	11	12					2																	233273466		2102	3901	6003	SO:0001819	synonymous_variant	251	exon8			CACACTGGACCCC	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.909G>C	2.37:g.233273466G>C		Somatic	82	1		WXS	Illumina GAIIx	Phase_I	125	74	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																			.		0.632	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		C	233273466	G	C	233273466	2	2	31	1	0	0	0	0	0	0	0	1	549	1335	47	3		3	ALPPL2	2	233273466	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	28081	233273466	9925907	515	6067											
ALPI	248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	233322794	233322794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgacagaggctgccCtgcgcctgctgagcaggaac	15	11	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233322794C>A	ENST00000295463.3	+	8	1020	c.943C>A	c.(943-945)Ctg>Atg	p.L315M		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	315					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAGGCTGCCCTGCGCCTGCT	0.652																																					p.L315M		.											.	ALPI-90	0			c.C943A						.						68	75	73					2																	233322794		2203	4300	6503	SO:0001583	missense	248	exon8			GCTGCCCTGCGCC	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.943C>A	2.37:g.233322794C>A	ENSP00000295463:p.Leu315Met	Somatic	339	1		WXS	Illumina GAIIx	Phase_I	505	180	NM_001631	0	0	0	0	0	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864125	0.32884	.	.	ENSG00000163295	ENST00000295463	D	0.97620	-4.46	4.46	-2.18	0.07037	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.367074	0.27253	N	0.020220	D	0.97297	0.9116	M	0.83312	2.635	0.23036	N	0.998392	P	0.48911	0.917	D	0.68039	0.955	D	0.92198	0.5765	10	0.87932	D	0	.	3.4805	0.07601	0.5589:0.2316:0.1091:0.1004	.	315	P09923	PPBI_HUMAN	M	315	ENSP00000295463:L315M	ENSP00000295463:L315M	L	+	1	2	ALPI	233031038	0.965000	0.33210	0.013000	0.15412	0.056000	0.15407	0.482000	0.22276	-0.200000	0.10300	0.561000	0.74099	CTG	.		0.652	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		A	233322794	C	A	233322794	3	1	31	1	0	0	0	0	1	0	0	0	543	680	24	3	973	3	ALPI	2	233322794	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49328	233322794	9876579	516	6068											
SAG	6295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234229340	234229340	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgacgtgatcggcttgacCttccgcagggacctgtactt	11	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:234229340C>A	ENST00000409110.1	+	5	476	c.246C>A	c.(244-246)acC>acA	p.T82T	SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	82					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCGGCTTGACCTTCCGCAGGG	0.592																																					p.T82T		.											.	SAG-23	0			c.C246A						.						36	39	38					2																	234229340		2098	4251	6349	SO:0001819	synonymous_variant	6295	exon5			CTTGACCTTCCGC		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.246C>A	2.37:g.234229340C>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	149	55	NM_000541	0	0	0	0	0	A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	CCDS46545.1																																																																																			.		0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		A	234229340	C	A	234229340	2	1	31	1	0	0	0	0	0	0	0	1	13853	668	24	3		3	SAG	2	234229340	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	906546	234229340	8970033	517	6069											
UGT1A5	54579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234621950	234621950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcgttctttgaaacagaaCatcttctgatgaaattttct	5	7	4	4	rs200200998		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:234621950C>A	ENST00000373414.3	+	1	313	c.313C>A	c.(313-315)Cat>Aat	p.H105N	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.H105N			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	105						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGAAACAGAACATCTTCTGAT	0.403																																					p.H105N		.											.	UGT1A5-3	0			c.C313A						.						125	122	123					2																	234621950		2203	4300	6503	SO:0001583	missense	54579	exon1			ACAGAACATCTTC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.313C>A	2.37:g.234621950C>A	ENSP00000362513:p.His105Asn	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	116	36	NM_019078	0	0	0	0	0	B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167499	0.09339	.	.	ENSG00000240224	ENST00000373414	T	0.59083	0.29	4.87	-3.91	0.04168	.	0.598876	0.18106	N	0.151514	T	0.24890	0.0604	N	0.04297	-0.235	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.17979	0.02;0.02	T	0.15607	-1.0431	10	0.21540	T	0.41	.	5.3651	0.16109	0.2515:0.2893:0.0:0.4592	.	105;105	Q5DSZ9;P35504	.;UD15_HUMAN	N	105	ENSP00000362513:H105N	ENSP00000362513:H105N	H	+	1	0	UGT1A5	234286689	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.997000	0.00317	-0.567000	0.06046	-0.263000	0.10527	CAT	C|1.000;T|0.000		0.403	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		A	234621950	C	A	234621950	3	1	31	1	0	0	0	0	1	0	0	0	16997	478	17	3	315	3	UGT1A5	2	234621950	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	392610	234621950	8577423	518	6070											
SH3BP4	23677	ucsc.edu;bcgsc.ca	37	chr2	235951205	235951205	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcaggtgaaggacgaccagGaggccatcctcacccagttt	11	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:235951205G>T	ENST00000409212.1	+	4	2299	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.E598*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.E598*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	598					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACGACCAGGAGGCCATCCT	0.572																																					p.E598X		.											.	SH3BP4-94	0			c.G1792T						.						61	61	61					2																	235951205		2203	4300	6503	SO:0001587	stop_gained	23677	exon4			GACCAGGAGGCCA	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1792G>T	2.37:g.235951205G>T	ENSP00000386862:p.Glu598*	Somatic	147	2		WXS	Illumina GAIIx	Phase_I	159	57	NM_014521	0	0	0	0	0	O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.258404	0.99370	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	.	.	.	5.08	5.08	0.68730	.	0.252860	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-18.5127	17.0389	0.86483	0.0:0.0:1.0:0.0	.	.	.	.	X	598	.	ENSP00000340237:E598X	E	+	1	0	SH3BP4	235615944	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.458000	0.97634	2.354000	0.79902	0.655000	0.94253	GAG	.		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235951205	G	T	235951205	4	4	31	1	0	0	0	0	0	1	0	0	14291	1175	41	3	1798	3	SH3BP4	2	235951205	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1329255	235951205	7248168	519	6071											
COL6A3	1293	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	238280884	238280884	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcccacgtccaggtagtcaAccagcctctctatgagggtg	11	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:238280884A>T	ENST00000295550.4	-	9	4228	c.3776T>A	c.(3775-3777)gTt>gAt	p.V1259D	COL6A3_ENST00000353578.4_Missense_Mutation_p.V1053D|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1059D|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1053D|COL6A3_ENST00000392003.2_Missense_Mutation_p.V852D|COL6A3_ENST00000472056.1_Missense_Mutation_p.V652D|COL6A3_ENST00000392004.3_Missense_Mutation_p.V1053D|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1058D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1259	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)		CAGGTAGTCAACCAGCCTCTC	0.587																																					p.V1259D		.											.	COL6A3-526	0			c.T3776A						.						53	49	50					2																	238280884		2203	4300	6503	SO:0001583	missense	1293	exon9			TAGTCAACCAGCC	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.3776T>A	2.37:g.238280884A>T	ENSP00000295550:p.Val1259Asp	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	110	55	NM_004369	0	0	0	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541362	0.85917	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.58	5.58	0.84498	von Willebrand factor, type A (3);	0.283353	0.25011	N	0.033828	D	0.94282	0.8163	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999	D;D;D;D;D	0.80764	0.992;0.994;0.982;0.991;0.983	D	0.95587	0.8651	10	0.87932	D	0	.	15.7533	0.78005	1.0:0.0:0.0:0.0	.	652;852;1053;1053;1259	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	D	1259;1058;1053;652;1053;1059;1053;852	ENSP00000295550:V1259D;ENSP00000315609:V1058D;ENSP00000315873:V1053D;ENSP00000418285:V652D;ENSP00000386844:V1053D;ENSP00000295546:V1059D;ENSP00000375861:V1053D;ENSP00000375860:V852D	ENSP00000295550:V1259D	V	-	2	0	COL6A3	237945623	0.998000	0.40836	0.918000	0.36340	0.801000	0.45260	7.079000	0.76829	2.123000	0.65237	0.533000	0.62120	GTT	.		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238280884	A	T	238280884	3	4	31	1	0	0	0	0	1	0	0	0	3708	43	2	5	5948	5	COL6A3	2	238280884	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2329679	238280884	4918489	520	6072											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237714	239237715	+	Frame_Shift_Del	DEL	GA	GA	-													gaaacagacacagagaagggGagagagagagagccaaagcc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:239237714_239237715delGA	ENST00000373327.4	+	5	868_869	c.646_647delGA	c.(646-648)gagfs	p.E216fs	TRAF3IP1_ENST00000391993.3_Frame_Shift_Del_p.E216fs|TRAF3IP1_ENST00000391994.2_Frame_Shift_Del_p.E216fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	216	Abolishes microtubules-binding when missing.|Arg-rich.				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)		cagagaaggggagagagagaga	0.54																																					p.216_216del		.											.	TRAF3IP1-228	0			c.646_647del						.																																			SO:0001589	frameshift_variant	26146	exon5			GAAGGGGAGAGAG	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.646_647delGA	2.37:g.239237724_239237725delGA	ENSP00000362424:p.Glu216fs	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	249	7	NM_015650	0	0	0	0	0	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Del	DEL	ENST00000373327.4	37	CCDS33415.1																																																																																			.		0.54	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		-	239237715	GA	-	239237714	7	5	31	1	0	1	0	1	0	0	0	0	16488	1175	41	0	664	0	TRAF3IP1	2	239237714	Frame_Shift_Del	DEL	GA	TCGA-OR-A5KB-01A-11D-A30A-10	956830	239237714	3961659	521	6073											
NDUFA10	4705	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	240951052	240951052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctcatctcagggagaaagGttttcttataggcattctca	8	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:240951052G>C	ENST00000252711.2	-	6	831	c.731C>G	c.(730-732)aCc>aGc	p.T244S	NDUFA10_ENST00000307300.4_Missense_Mutation_p.T274S|NDUFA10_ENST00000404554.1_Missense_Mutation_p.T244S	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	244					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AGGGAGAAAGGTTTTCTTATA	0.438																																					p.T244S		.											.	NDUFA10-514	0			c.C731G						.						159	148	152					2																	240951052		2203	4300	6503	SO:0001583	missense	4705	exon6			AGAAAGGTTTTCT	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.731C>G	2.37:g.240951052G>C	ENSP00000252711:p.Thr244Ser	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	92	31	NM_004544	0	0	0	0	0	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	CCDS2531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.240|5.240	0.229682|0.229682	0.09916|0.09916	.|.	.|.	ENSG00000130414|ENSG00000130414	ENST00000444548|ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300	.|D;D;D	.|0.94376	.|-3.41;-3.41;-3.41	4.37|4.37	3.49|3.49	0.39957|0.39957	.|.	.|0.106615	.|0.64402	.|D	.|0.000006	D|D	0.86083|0.86083	0.5848|0.5848	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23937	.|0.043;0.094	.|B;B	.|0.26310	.|0.041;0.068	T|T	0.78981|0.78981	-0.1989|-0.1989	5|10	.|0.20519	.|T	.|0.43	-34.5111|-34.5111	10.5619|10.5619	0.45150|0.45150	0.0969:0.0:0.9031:0.0|0.0969:0.0:0.9031:0.0	.|.	.|274;244	.|Q8WXC9;O95299	.|.;NDUAA_HUMAN	K|S	14|9;244;244;244;7;274	.|ENSP00000252711:T244S;ENSP00000385697:T244S;ENSP00000302321:T274S	.|ENSP00000252711:T244S	N|T	-|-	3|2	2|0	NDUFA10|NDUFA10	240599725|240599725	0.996000|0.996000	0.38824|0.38824	0.954000|0.954000	0.39281|0.39281	0.848000|0.848000	0.48234|0.48234	1.997000|1.997000	0.40786|0.40786	0.986000|0.986000	0.38683|0.38683	-0.137000|-0.137000	0.14449|0.14449	AAC|ACC	.		0.438	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		C	240951052	G	C	240951052	3	2	31	1	0	0	0	0	1	0	0	0	10299	1261	44	3	356	3	NDUFA10	2	240951052	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1713338	240951052	2248321	522	6074											
OTOS	150677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241078654	241078654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagtgggcaaagaaggttCgggccatgtcctcgatctgg	16	8	1	1	rs376456799		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241078654C>T	ENST00000391989.2	-	5	433	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	MYEOV2_ENST00000307266.3_5'Flank|MYEOV2_ENST00000607357.1_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.R68Q			Q8NHW6	OTOSP_HUMAN	otospiralin	68					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.R68Q(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGAAGGTTCGGGCCATGTC	0.642																																					p.R68Q		.											.	OTOS-68	1	Substitution - Missense(1)	large_intestine(1)	c.G203A						.	C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	73	74	74		203	3.5	1	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOS	NM_148961.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/90	241078654	1,13005	2203	4300	6503	SO:0001583	missense	150677	exon4			AAGGTTCGGGCCA		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.203G>A	2.37:g.241078654C>T	ENSP00000375849:p.Arg68Gln	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	229	31	NM_148961	0	0	0	0	0	Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477925	0.63849	0.0	1.16E-4	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.62105	0.05;0.05	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	.	.	.	0.47511	D	0.999445	D	0.89917	1.0	D	0.79108	0.992	T	0.81156	-0.1061	9	0.87932	D	0	-15.6679	12.8596	0.57906	0.0:1.0:0.0:0.0	.	68	Q8NHW6	OTOSP_HUMAN	Q	68	ENSP00000375849:R68Q;ENSP00000322486:R68Q	ENSP00000322486:R68Q	R	-	2	0	OTOS	240727327	1.000000	0.71417	0.999000	0.59377	0.222000	0.24845	6.661000	0.74422	1.688000	0.51068	0.205000	0.17691	CGA	.		0.642	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		T	241078654	C	T	241078654	3	4	31	1	0	0	0	0	1	0	0	0	11348	884	31	1	70	1	OTOS	2	241078654	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	127602	241078654	2120719	523	6075											
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241658532	241658532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacatgtaggcataggggCgccgcaccaccacgaagcgc	13	13	0	0	rs369839651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241658532C>A	ENST00000320389.7	-	45	4960	c.4802G>T	c.(4801-4803)cGc>cTc	p.R1601L	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1702L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1601	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1601P(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCATAGGGGCGCCGCACCAC	0.627																																					p.R1702L		.											.	KIF1A-91	1	Substitution - Missense(1)	lung(1)	c.G5105T						.						85	98	94					2																	241658532		2161	4271	6432	SO:0001583	missense	547	exon47			TAGGGGCGCCGCA	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4802G>T	2.37:g.241658532C>A	ENSP00000322791:p.Arg1601Leu	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	269	104	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129242	0.94473	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.12774	2.65;2.65	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.36771	0.0979	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.23226	-1.0194	10	0.49607	T	0.09	.	16.24	0.82402	0.0:1.0:0.0:0.0	.	1702;1601	F5H045;Q12756	.;KIF1A_HUMAN	L	1601;1702;1710	ENSP00000322791:R1601L;ENSP00000438388:R1702L	ENSP00000322791:R1601L	R	-	2	0	KIF1A	241307205	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.508000	0.81686	1.818000	0.53035	0.467000	0.42956	CGC	.		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241658532	C	A	241658532	3	1	31	1	0	0	0	0	1	0	0	0	8310	768	27	2	282	2	KIF1A	2	241658532	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	579878	241658532	1540841	524	6076											
AGXT	189	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241812461	241812461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccccctttacatggaccGgcaaggtaagggtgggctct	13	12	1	0	rs34664134	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241812461G>T	ENST00000307503.3	+	5	977	c.590G>T	c.(589-591)cGg>cTg	p.R197L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	197					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TACATGGACCGGCAAGGTAAG	0.657																																					p.R197L		.											.	AGXT-90	0			c.G590T						.						71	69	70					2																	241812461		2203	4300	6503	SO:0001583	missense	189	exon5			TGGACCGGCAAGG	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.590G>T	2.37:g.241812461G>T	ENSP00000302620:p.Arg197Leu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	141	46	NM_000030	0	0	0	0	0	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916202	0.52546	.	.	ENSG00000172482	ENST00000307503	D	0.90788	-2.73	4.14	4.14	0.48551	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.536026	0.20684	N	0.087595	D	0.85961	0.5819	L	0.43923	1.385	0.19945	N	0.999949	B;B	0.23650	0.089;0.012	B;B	0.23018	0.043;0.018	T	0.76607	-0.2897	10	0.66056	D	0.02	-17.0156	9.2238	0.37393	0.9108:0.0:0.0892:0.0	.	197;197	B7Z548;P21549	.;SPYA_HUMAN	L	197	ENSP00000302620:R197L	ENSP00000302620:R197L	R	+	2	0	AGXT	241461134	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.540000	0.53611	0.471000	0.27319	-0.351000	0.07748	CGG	G|0.993;A|0.007		0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		T	241812461	G	T	241812461	3	4	31	1	0	0	0	0	1	0	0	0	404	1116	39	2	608	2	AGXT	2	241812461	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	153929	241812461	1386912	525	6077											
PASK	23178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242066763	242066763	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagatcctgtccggggctctCtattgccacaggttcctctc	9	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242066763C>A	ENST00000405260.1	-	10	2265	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PASK_ENST00000234040.4_Nonsense_Mutation_p.E523*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E337*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E307*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E523*|PASK_ENST00000403638.3_Nonsense_Mutation_p.E523*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	523					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)		CCGGGGCTCTCTATTGCCACA	0.562																																					p.E523X		.											.	PASK-536	0			c.G1567T						.						122	128	126					2																	242066763		2203	4300	6503	SO:0001587	stop_gained	23178	exon10			GGCTCTCTATTGC	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.1567G>T	2.37:g.242066763C>A	ENSP00000384016:p.Glu523*	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	106	41	NM_015148	0	0	0	0	0	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372670	0.99393	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.97	4.07	0.47477	.	0.475456	0.18803	N	0.130728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	11.4484	0.50138	0.0:0.8173:0.1827:0.0	.	.	.	.	X	523;337;523;523;307;523	.	ENSP00000234040:E523X	E	-	1	0	PASK	241715436	0.000000	0.05858	0.703000	0.30354	0.018000	0.09664	0.009000	0.13219	1.194000	0.43101	0.561000	0.74099	GAG	.		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242066763	C	A	242066763	4	1	31	1	0	0	0	0	0	1	0	0	11511	922	32	3	2440	3	PASK	2	242066763	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	254302	242066763	1132610	526	6078											
HDLBP	3069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242192402	242192402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcccaatgaggtgccTgtggaacttgtggtcgatgt	13	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242192402T>A	ENST00000391975.1	-	11	1569	c.1342A>T	c.(1342-1344)Agg>Tgg	p.R448W	HDLBP_ENST00000310931.4_Missense_Mutation_p.R448W|HDLBP_ENST00000427183.2_Missense_Mutation_p.R415W|HDLBP_ENST00000391976.2_Missense_Mutation_p.R448W|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	448	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)		ATGAGGTGCCTGTGGAACTTG	0.572																																					p.R448W		.											.	HDLBP-290	0			c.A1342T						.						194	154	168					2																	242192402		2203	4300	6503	SO:0001583	missense	3069	exon11			GGTGCCTGTGGAA		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.1342A>T	2.37:g.242192402T>A	ENSP00000375836:p.Arg448Trp	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	220	68	NM_005336	0	0	0	0	0	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.311504|4.311504	0.81358|0.81358	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.49|5.49	4.32|4.32	0.51571|0.51571	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60766|0.60766	0.2294|0.2294	M|M	0.90309|0.90309	3.105|3.105	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	0.67461|0.67461	-0.5665|-0.5665	5|10	.|0.87932	.|D	.|0	-26.1744|-26.1744	11.4402|11.4402	0.50092|0.50092	0.0:0.0:0.3067:0.6933|0.0:0.0:0.3067:0.6933	.|.	.|415;448	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|W	256|448;448;448;415	.|ENSP00000375836:R448W;ENSP00000375837:R448W;ENSP00000312042:R448W;ENSP00000399139:R415W	.|ENSP00000312042:R448W	Q|R	-|-	2|1	0|2	HDLBP|HDLBP	241841075|241841075	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	2.395000|2.395000	0.44459|0.44459	0.996000|0.996000	0.38943|0.38943	0.533000|0.533000	0.62120|0.62120	CAG|AGG	.		0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		A	242192402	T	A	242192402	3	1	31	1	0	0	0	0	1	0	0	0	7052	1579	55	5	2536	5	HDLBP	2	242192402	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	125639	242192402	1006971	527	6079											
ATG4B	23192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242606247	242606247	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggcctacgtggagacGctgaaggtgggtcctgccgt	16	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242606247G>T	ENST00000404914.3	+	8	829	c.726G>T	c.(724-726)acG>acT	p.T242T	ATG4B_ENST00000396411.3_Silent_p.T168T|ATG4B_ENST00000405546.3_Silent_p.T242T|ATG4B_ENST00000474739.2_Silent_p.T228T|ATG4B_ENST00000402096.1_Silent_p.T168T	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	242					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.T242T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGACGCTGAAGGTGG	0.622																																					p.T242T	Melanoma(78;458 1323 6342 12171 39523)	.											.	.	1	Substitution - coding silent(1)	kidney(1)	c.G726T						.						24	26	25					2																	242606247		2132	4209	6341	SO:0001819	synonymous_variant	23192	exon8			GGAGACGCTGAAG	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.726G>T	2.37:g.242606247G>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	63	22	NM_178326	0	0	0	0	0	B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	CCDS46564.1																																																																																			.		0.622	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		T	242606247	G	T	242606247	2	4	31	1	0	0	0	0	0	0	0	1	1098	1074	38	2		2	ATG4B	2	242606247	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	413845	242606247	593126	528	6080											
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	361487	361487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcttttacttggaagaggaCtaatcgtatatctaatgttc	8	7	1	1	rs139673243	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:361487C>G	ENST00000256509.2	+	3	670	c.28C>G	c.(28-30)Cta>Gta	p.L10V	CHL1_ENST00000397491.2_Missense_Mutation_p.L10V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGAAGAGGACTAATCGTATA	0.363													C|||	10	0.00199681	0	0.0144	5008	,	,		16055	0		0	False		,,,				2504	0				p.L10V		.											.	CHL1-583	0			c.C28G						.	C	VAL/LEU	2,4404	4.2+/-10.8	0,2,2201	70	71	71		28	-6.9	0	3	dbSNP_134	71	0,8600		0,0,4300	yes	missense	CHL1	NM_006614.2	32	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	benign	10/1225	361487	2,13004	2203	4300	6503	SO:0001583	missense	10752	exon1			AGAGGACTAATCG	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.28C>G	3.37:g.361487C>G	ENSP00000256509:p.Leu10Val	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	30	19	NM_001253388	0	0	0	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	6.761	0.509248	0.12883	4.54E-4	0.0	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;T	0.64260	0.27;0.26;0.91;0.29;0.22;-0.09	4.91	-6.9	0.01655	.	1.906350	0.02550	N	0.095603	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	B;B;B	0.28233	0.009;0.004;0.204	B;B;B	0.29598	0.004;0.007;0.104	T	0.20306	-1.0279	10	0.12430	T	0.62	.	1.3608	0.02191	0.264:0.3477:0.2037:0.1847	.	10;10;10	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	V	10	ENSP00000256509:L10V;ENSP00000380628:L10V;ENSP00000403311:L10V;ENSP00000413628:L10V;ENSP00000397445:L10V;ENSP00000390440:L10V	ENSP00000256509:L10V	L	+	1	2	CHL1	336487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.365000	0.07573	-1.642000	0.01521	-1.236000	0.01555	CTA	C|1.000;G|0.000		0.363	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		G	361487	C	G	361487	3	3	31	1	0	0	0	0	1	0	0	0	3356	564	20	3	30	3	CHL1	3	361487	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		361487	197660943	529	6081											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	4693830	4693830	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcatgacccatgtcgGggcggagcagggtattggaa	16	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:4693830G>T	ENST00000443694.2	+	9	879	c.879G>T	c.(877-879)cgG>cgT	p.R293R	ITPR1_ENST00000456211.2_Silent_p.R293R|ITPR1_ENST00000423119.2_Silent_p.R293R|ITPR1_ENST00000354582.6_Silent_p.R293R|ITPR1_ENST00000302640.8_Silent_p.R293R|ITPR1_ENST00000357086.4_Silent_p.R293R|ITPR1_ENST00000544951.1_Silent_p.R293R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	293					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)	ACCCATGTCGGGGCGGAGCAG	0.498																																					p.R293R		.											.	ITPR1-710	0			c.G879T						.						76	77	77					3																	4693830		1993	4176	6169	SO:0001819	synonymous_variant	3708	exon11			ATGTCGGGGCGGA	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.879G>T	3.37:g.4693830G>T		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	163	110	NM_001099952	0	0	0	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																			.		0.498	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4693830	G	T	4693830	2	4	31	1	0	0	0	0	0	0	0	1	7947	1219	43	3		3	ITPR1	3	4693830	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4332343	4693830	193328600	530	6082											
GRM7	2917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	6903300	6903300	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacatcaagagggaaaacggGatccacaggctggaagcgat	14	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:6903300G>T	ENST00000357716.4	+	1	499	c.225G>T	c.(223-225)ggG>ggT	p.G75G	GRM7_ENST00000486284.1_Silent_p.G75G|GRM7_ENST00000403881.1_Silent_p.G75G|GRM7_ENST00000389336.4_Silent_p.G75G|GRM7_ENST00000402647.2_Silent_p.G75G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	75					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGAAAACGGGATCCACAGGC	0.642																																					p.G75G		.											.	GRM7-526	0			c.G225T						.						32	30	30					3																	6903300		2203	4300	6503	SO:0001819	synonymous_variant	2917	exon1			AAACGGGATCCAC	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.225G>T	3.37:g.6903300G>T		Somatic	173	1		WXS	Illumina GAIIx	Phase_I	246	165	NM_000844	0	0	0	0	0	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																			.		0.642	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	6903300	G	T	6903300	2	4	31	1	0	0	0	0	0	0	0	1	6829	1161	41	3		3	GRM7	3	6903300	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2209470	6903300	191119130	531	6083											
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9483874	9483874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatgtgtgtggatgcccGtactttcggtaatgatgctc	13	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:9483874G>T	ENST00000406341.1	+	9	1212	c.1022G>T	c.(1021-1023)cGt>cTt	p.R341L	SETD5_ENST00000302463.6_Missense_Mutation_p.R243L|SETD5_ENST00000407969.1_Missense_Mutation_p.R360L|SETD5_ENST00000402466.1_Missense_Mutation_p.R243L|SETD5_ENST00000402198.1_Missense_Mutation_p.R341L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	341	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTGGATGCCCGTACTTTCGGT	0.408																																					p.R341L		.											.	SETD5-70	0			c.G1022T						.						143	131	135					3																	9483874		1923	4143	6066	SO:0001583	missense	55209	exon10			ATGCCCGTACTTT	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1022G>T	3.37:g.9483874G>T	ENSP00000383939:p.Arg341Leu	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	65	41	NM_001080517	0	0	0	0	0	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323835	0.95708	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.49	5.49	0.81192	SET domain (3);	0.120638	0.56097	D	0.000029	D	0.89955	0.6865	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.996	P;D;D	0.85130	0.908;0.997;0.997	D	0.90679	0.4604	10	0.87932	D	0	-2.8383	19.3711	0.94488	0.0:0.0:1.0:0.0	.	243;341;360	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	L	341;243;341;360;243	ENSP00000385852:R341L;ENSP00000384429:R243L;ENSP00000383939:R341L;ENSP00000384114:R360L;ENSP00000302028:R243L	ENSP00000302028:R243L	R	+	2	0	SETD5	9458874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.585000	0.87301	0.655000	0.94253	CGT	.		0.408	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		T	9483874	G	T	9483874	3	4	31	1	0	0	0	0	1	0	0	0	14179	1145	40	2	1052	2	SETD5	3	9483874	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2580574	9483874	188538556	532	6084											
ARPC4	10093	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9839433	9839433	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcccaggttgtggaaCgacacaacaagccggaagtg	11	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:9839433C>A	ENST00000397261.3	+	2	658	c.94C>A	c.(94-96)Cga>Aga	p.R32R	ARPC4_ENST00000498623.2_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.R32R|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000433034.1_Silent_p.R51R	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	32					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GGTTGTGGAACGACACAACAA	0.582																																					p.R51R		.											.	ARPC4-90	0			c.C151A						.						71	71	71					3																	9839433		2000	4173	6173	SO:0001819	synonymous_variant	10093	exon2			GTGGAACGACACA	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"Actin related protein 2/3 complex subunits"	707	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p20", "actin related protein 2/3 complex, subunit 4 (20 kD)"	604226	"actin related protein 2/3 complex, subunit 4 (20 kD)"			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.94C>A	3.37:g.9839433C>A		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	87	56	NM_001198780	0	0	0	0	0	C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Silent	SNP	ENST00000397261.3	37	CCDS43047.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604041	0.28534	.	.	ENSG00000250151	ENST00000453882	.	.	.	5.41	2.17	0.27698	.	.	.	.	.	T	0.69441	0.3111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68830	-0.5305	4	.	.	.	0.3845	15.2975	0.73922	0.3738:0.6262:0.0:0.0	.	.	.	.	K	31	.	.	T	+	2	0	ARPC4-TTLL3	9814433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	0.605000	0.29947	0.650000	0.86243	ACG	.		0.582	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959		A	9839433	C	A	9839433	2	1	31	1	0	0	0	0	0	0	0	1	974	528	19	2		2	ARPC4	3	9839433	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	355559	9839433	188182997	533	6085											
WNT7A	7476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	13896295	13896295	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtgaacgcagcctcccGgctccctgcgaggaggagag	16	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:13896295G>T	ENST00000285018.4	-	3	608	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	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)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGCCTCCCGGCTCCCTGCG	0.627																																					p.R102R		.											.	WNT7A-948	0			c.C304A						.						49	50	49					3																	13896295		2203	4300	6503	SO:0001819	synonymous_variant	7476	exon3			CCTCCCGGCTCCC	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.304C>A	3.37:g.13896295G>T		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	62	45	NM_004625	0	0	0	0	0	Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	CCDS2616.1																																																																																			.		0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		T	13896295	G	T	13896295	2	4	31	1	0	0	0	0	0	0	0	1	17443	1115	39	2		2	WNT7A	3	13896295	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4056862	13896295	184126135	534	6086											
ZNF385D	79750	broad.mit.edu;bcgsc.ca	37	chr3	21462870	21462870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgcggctgctgcagCtgctagaggatttggtagaa	15	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:21462870C>A	ENST00000281523.2	-	8	1542	c.1024G>T	c.(1024-1026)Gct>Tct	p.A342S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	342	Poly-Ala.					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						gctgctgcagctgctAGAGGA	0.473																																					p.A342S		.											.	ZNF385D-156	0			c.G1024T						.						37	41	39					3																	21462870		2203	4300	6503	SO:0001583	missense	79750	exon8			CTGCAGCTGCTAG	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.1024G>T	3.37:g.21462870C>A	ENSP00000281523:p.Ala342Ser	Somatic	48	1		WXS	Illumina GAIIx	Phase_I	57	38	NM_024697	0	0	0	0	0		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345372	0.41498	.	.	ENSG00000151789	ENST00000281523	T	0.32753	1.44	6.08	6.08	0.98989	.	0.054584	0.64402	D	0.000001	T	0.46112	0.1376	L	0.38175	1.15	0.58432	D	0.999997	D	0.63880	0.993	D	0.70227	0.968	T	0.05435	-1.0885	10	0.14656	T	0.56	-40.0643	20.6593	0.99626	0.0:1.0:0.0:0.0	.	342	Q9H6B1	Z385D_HUMAN	S	342	ENSP00000281523:A342S	ENSP00000281523:A342S	A	-	1	0	ZNF385D	21437874	0.994000	0.37717	0.983000	0.44433	0.176000	0.22953	4.651000	0.61447	2.887000	0.99086	0.650000	0.86243	GCT	.		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21462870	C	A	21462870	3	1	31	1	0	0	0	0	1	0	0	0	17926	797	28	3	167	3	ZNF385D	3	21462870	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7566575	21462870	176559560	535	6087											
ZCWPW2	152098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	28454817	28454817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtctcagcttcatcaGtgtggatttaagattgtcta	10	6	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:28454817G>T	ENST00000383768.2	+	3	446	c.258G>T	c.(256-258)caG>caT	p.Q86H	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.Q86H			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	86							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGCTTCATCAGTGTGGATTTA	0.383																																					p.Q86H		.											.	ZCWPW2-24	0			c.G258T						.						132	129	130					3																	28454817		2203	4300	6503	SO:0001583	missense	152098	exon2			TCATCAGTGTGGA	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.258G>T	3.37:g.28454817G>T	ENSP00000373278:p.Gln86His	Somatic	124	2		WXS	Illumina GAIIx	Phase_I	130	98	NM_001040432	0	0	0	0	0		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.788|9.788	1.177156|1.177156	0.21787|0.21787	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010|ENST00000428875	T;T|.	0.32023|.	1.47;1.47|.	5.41|5.41	0.293|0.293	0.15742|0.15742	.|.	0.966478|.	0.08531|.	N|.	0.932027|.	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|.	0.36438|.	0.553|.	B|.	0.35510|.	0.204|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.59425|.	D|.	0.04|.	-0.3322|-0.3322	3.6796|3.6796	0.08305|0.08305	0.5779:0.0:0.2679:0.1542|0.5779:0.0:0.2679:0.1542	.|.	86|.	Q504Y3|.	ZCPW2_HUMAN|.	H|L	86|70	ENSP00000373278:Q86H;ENSP00000412386:Q86H|.	ENSP00000373278:Q86H|.	Q|V	+|+	3|1	2|0	ZCWPW2|ZCWPW2	28429821|28429821	0.825000|0.825000	0.29262|0.29262	0.024000|0.024000	0.17045|0.17045	0.662000|0.662000	0.39071|0.39071	0.023000|0.023000	0.13533|0.13533	-0.179000|-0.179000	0.10654|0.10654	-1.082000|-1.082000	0.02213|0.02213	CAG|GTG	.		0.383	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		T	28454817	G	T	28454817	3	4	31	1	0	0	0	0	1	0	0	0	17646	1020	36	3	260	3	ZCWPW2	3	28454817	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6991947	28454817	169567613	536	6088											
TGFBR2	7048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	30713626	30713626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcggaagacggagttGgggaaacaatactggctgat	17	5	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:30713626G>T	ENST00000295754.5	+	4	1333	c.951G>T	c.(949-951)ttG>ttT	p.L317F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L342F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGACGGAGTTGGGGAAACAAT	0.547																																					p.L342F		.											.	TGFBR2-1698	0			c.G1026T						.						91	81	85					3																	30713626		2203	4300	6503	SO:0001583	missense	7048	exon5			GGAGTTGGGGAAA		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.951G>T	3.37:g.30713626G>T	ENSP00000295754:p.Leu317Phe	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	113	74	NM_001024847	0	0	0	0	0	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256823	0.39896	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93547	-3.24;-3.24	5.02	3.2	0.36748	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.468850	0.20281	N	0.095441	D	0.89022	0.6597	L	0.48935	1.535	0.43485	D	0.995714	P;P	0.36144	0.539;0.539	B;B	0.40410	0.225;0.328	D	0.83554	0.0103	10	0.49607	T	0.09	.	1.7044	0.02878	0.1639:0.1305:0.4263:0.2793	.	317;342	P37173;D2JYI1	TGFR2_HUMAN;.	F	317;342;147	ENSP00000295754:L317F;ENSP00000351905:L342F	ENSP00000295754:L317F	L	+	3	2	TGFBR2	30688630	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	0.934000	0.28910	0.498000	0.27948	0.655000	0.94253	TTG	.		0.547	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			T	30713626	G	T	30713626	3	4	31	1	0	0	0	0	1	0	0	0	15869	1339	47	3	1044	3	TGFBR2	3	30713626	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2258809	30713626	167308804	537	6089											
SCN11A	11280	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	38936044	38936044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgttcaggctcaggttGtgtgatgcgctgtgcattat	13	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:38936044G>T	ENST00000302328.3	-	15	3013	c.2815C>A	c.(2815-2817)Caa>Aaa	p.Q939K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q939K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q939K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q939K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	939					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCTCAGGTTGTGTGATGCGC	0.493																																					p.Q939K		.											.	SCN11A-99	0			c.C2815A						.						233	235	235					3																	38936044		2203	4300	6503	SO:0001583	missense	11280	exon15			CAGGTTGTGTGAT	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2815C>A	3.37:g.38936044G>T	ENSP00000307599:p.Gln939Lys	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	100	55	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	4.337	0.062003	0.08339	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.2	-0.478	0.12093	Sodium ion transport-associated (1);	17.794200	0.00166	N	0.000000	T	0.76357	0.3976	L	0.50333	1.59	0.09310	N	1	B	0.30146	0.27	B	0.34931	0.192	T	0.54111	-0.8342	10	0.10377	T	0.69	.	2.4129	0.04429	0.0914:0.2516:0.2914:0.3656	.	939	Q9UI33	SCNBA_HUMAN	K	939	ENSP00000307599:Q939K;ENSP00000400945:Q939K;ENSP00000416757:Q939K;ENSP00000408028:Q939K	ENSP00000307599:Q939K	Q	-	1	0	SCN11A	38911048	0.534000	0.26362	0.002000	0.10522	0.008000	0.06430	2.056000	0.41355	0.196000	0.20367	-1.051000	0.02340	CAA	.		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38936044	G	T	38936044	3	4	31	1	0	0	0	0	1	0	0	0	13958	1386	48	3	2608	3	SCN11A	3	38936044	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8222418	38936044	159086386	538	6090											
SCN11A	11280	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	38991675	38991675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagagcttgggcaacttcCtggaggcctttaggtcaagc	12	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:38991675C>T	ENST00000302328.3	-	1	377	c.179G>A	c.(178-180)aGg>aAg	p.R60K	SCN11A_ENST00000444237.2_Missense_Mutation_p.R60K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R60K|SCN11A_ENST00000450244.1_Missense_Mutation_p.R60K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	60					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCAACTTCCTGGAGGCCTT	0.493																																					p.R60K		.											.	SCN11A-99	0			c.G179A						.						142	143	143					3																	38991675		2203	4300	6503	SO:0001583	missense	11280	exon1			AACTTCCTGGAGG	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.179G>A	3.37:g.38991675C>T	ENSP00000307599:p.Arg60Lys	Somatic	129	2		WXS	Illumina GAIIx	Phase_I	111	70	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568779	0.28003	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.94897	-3.55;-3.55;-3.52;-3.43	5.41	5.41	0.78517	.	0.100237	0.64402	D	0.000002	D	0.84451	0.5475	N	0.08118	0	0.32765	N	0.504521	B	0.27765	0.188	B	0.29267	0.1	T	0.79897	-0.1609	10	0.02654	T	1	.	10.1725	0.42920	0.0:0.9098:0.0:0.0902	.	60	Q9UI33	SCNBA_HUMAN	K	60	ENSP00000307599:R60K;ENSP00000400945:R60K;ENSP00000416757:R60K;ENSP00000408028:R60K	ENSP00000307599:R60K	R	-	2	0	SCN11A	38966679	0.997000	0.39634	1.000000	0.80357	0.612000	0.37316	3.053000	0.49901	2.536000	0.85505	0.655000	0.94253	AGG	.		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38991675	C	T	38991675	3	4	31	1	0	0	0	0	1	0	0	0	13958	681	24	3	5300	3	SCN11A	3	38991675	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	55631	38991675	159030755	539	6091											
TTC21A	199223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39151570	39151570	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcatcaggcatcacccaGacgtgtccctgtgctccacc	8	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39151570G>T	ENST00000431162.2	+	3	342	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	GORASP1_ENST00000479927.1_5'Flank|TTC21A_ENST00000440121.1_Missense_Mutation_p.D70Y|TTC21A_ENST00000301819.6_Missense_Mutation_p.D70Y|GORASP1_ENST00000422110.2_5'Flank|GORASP1_ENST00000319283.3_5'Flank			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	70										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)		GCATCACCCAGACGTGTCCCT	0.522																																					p.D70Y		.											.	TTC21A-91	0			c.G208T						.						109	119	115					3																	39151570		2092	4229	6321	SO:0001583	missense	199223	exon3			CACCCAGACGTGT	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.208G>T	3.37:g.39151570G>T	ENSP00000398211:p.Asp70Tyr	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	67	37	NM_001105513	0	0	0	0	0	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425819	0.62733	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.66995	0.25;0.25;-0.24	5.31	4.42	0.53409	Tetratricopeptide-like helical (1);	0.169037	0.38058	N	0.001821	T	0.78368	0.4272	M	0.84846	2.72	0.41352	D	0.987371	D;D;D;D	0.58268	0.982;0.977;0.961;0.977	P;P;P;P	0.58660	0.843;0.742;0.556;0.742	T	0.80618	-0.1302	10	0.87932	D	0	-19.641	8.4785	0.33027	0.0826:0.157:0.7604:0.0	.	70;70;70;70	Q8NDW8-6;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;TT21A_HUMAN;.	Y	70	ENSP00000301819:D70Y;ENSP00000398211:D70Y;ENSP00000410882:D70Y	ENSP00000301819:D70Y	D	+	1	0	TTC21A	39126574	1.000000	0.71417	0.704000	0.30370	0.805000	0.45488	3.286000	0.51724	1.192000	0.43071	0.462000	0.41574	GAC	.		0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39151570	G	T	39151570	3	4	31	1	0	0	0	0	1	0	0	0	16736	942	33	3	218	3	TTC21A	3	39151570	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	159895	39151570	158870860	540	6092											
CX3CR1	1524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39307473	39307473	+	Silent	SNP	A	A	T													aggacctcggggtagtcaccAaggcattcattttctttctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39307473A>T	ENST00000541347.1	-	2	767	c.528T>A	c.(526-528)ctT>ctA	p.L176L	CX3CR1_ENST00000542107.1_Silent_p.L176L|CX3CR1_ENST00000399220.2_Silent_p.L176L|CX3CR1_ENST00000358309.3_Silent_p.L208L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	176					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGTAGTCACCAAGGCATTCAT	0.517																																					p.L208L		.											.	CX3CR1-658	0			c.T624A						.						105	105	105					3																	39307473		1958	4140	6098	SO:0001819	synonymous_variant	1524	exon2			GTCACCAAGGCAT	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.528T>A	3.37:g.39307473A>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	94	49	NM_001171174	0	0	0	0	0	A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	CCDS43069.1																																																																																			.		0.517	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307473	A	T	39307473	2	4	31	1	0	0	0	0	0	0	0	1	4084	117	5	5		5	CX3CR1	3	39307473	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	155903	39307473	158714957	541	6093	48	2									
CX3CR1	1524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39307475	39307475	+	Missense_Mutation	SNP	G	G	T													gacctcggggtagtcaccaaGgcattcattttctttctgct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39307475G>T	ENST00000541347.1	-	2	765	c.526C>A	c.(526-528)Ctt>Att	p.L176I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.L176I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L176I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.L208I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	176					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TAGTCACCAAGGCATTCATTT	0.527																																					p.L208I		.											.	CX3CR1-658	0			c.C622A						.						104	104	104					3																	39307475		1962	4143	6105	SO:0001583	missense	1524	exon2			CACCAAGGCATTC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.526C>A	3.37:g.39307475G>T	ENSP00000439140:p.Leu176Ile	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	91	47	NM_001171174	0	0	0	0	0	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.057979	0.19987	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.76	-2.33	0.06724	GPCR, rhodopsin-like superfamily (1);	0.590630	0.17653	N	0.166612	T	0.13713	0.0332	N	0.10945	0.07	0.09310	N	1	P	0.40000	0.698	B	0.38616	0.277	T	0.23833	-1.0177	10	0.22706	T	0.39	.	3.5911	0.07989	0.511:0.1096:0.2676:0.1118	.	176	P49238	CX3C1_HUMAN	I	176;184;208;176;176	ENSP00000382166:L176I;ENSP00000351059:L208I;ENSP00000439140:L176I;ENSP00000444928:L176I	ENSP00000351059:L208I	L	-	1	0	CX3CR1	39282479	0.000000	0.05858	0.035000	0.18076	0.949000	0.60115	-0.698000	0.05092	-0.450000	0.07107	0.655000	0.94253	CTT	.		0.527	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		T	39307475	G	T	39307475	3	4	31	1	0	0	0	0	1	0	0	0	4084	1000	35	3	545	3	CX3CR1	3	39307475	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2	39307475	158714955	542	6094	48	2									
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42787495	42787495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctgctgaacgttgatgtCttccccaacctctctggcca	9	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:42787495C>T	ENST00000310232.6	-	7	828	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	249										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACGTTGATGTCTTCCCCAACC	0.512																																					p.D249N		.											.	CCDC13-91	0			c.G745A						.						92	88	90					3																	42787495		2203	4300	6503	SO:0001583	missense	152206	exon7			TGATGTCTTCCCC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.745G>A	3.37:g.42787495C>T	ENSP00000309836:p.Asp249Asn	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	100	44	NM_144719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976537	0.53720	.	.	ENSG00000244607	ENST00000310232	T	0.23348	1.91	5.08	5.08	0.68730	.	0.157174	0.53938	D	0.000060	T	0.30885	0.0779	L	0.47016	1.485	0.50813	D	0.999895	D	0.53312	0.959	P	0.49226	0.603	T	0.02797	-1.1109	10	0.14252	T	0.57	.	17.2515	0.87043	0.0:1.0:0.0:0.0	.	249	Q8IYE1	CCD13_HUMAN	N	249	ENSP00000309836:D249N	ENSP00000309836:D249N	D	-	1	0	CCDC13	42762499	1.000000	0.71417	0.985000	0.45067	0.120000	0.20174	4.855000	0.62925	2.372000	0.80975	0.655000	0.94253	GAC	.		0.512	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		T	42787495	C	T	42787495	3	4	31	1	0	0	0	0	1	0	0	0	2772	913	32	3	1442	3	CCDC13	3	42787495	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3480020	42787495	155234935	543	6095											
EXOSC7	23016	bcgsc.ca	37	chr3	45052775	45052775	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcctccttgcagagtgttGtgcacaaggaagaaagcctg	12	9	0	2	rs6794	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:45052775G>C	ENST00000265564.7	+	8	868	c.820G>C	c.(820-822)Gtg>Ctg	p.V274L	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	274			V -> L (in dbSNP:rs6794). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:7788527}.		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 catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCAGAGTGTTGTGCACAAGGA	0.517													C|||	3535	0.705871	0.7269	0.6239	5008	,	,		17322	0.9008		0.4841	False		,,,				2504	0.7628				p.V274L		.											.	EXOSC7-90	0			c.G820C						.	C	LEU/VAL	2989,1417	462.4+/-353.2	1008,973,222	88	74	79		820	2.9	0	3	dbSNP_52	79	4411,4189	568.3+/-389.0	1124,2163,1013	yes	missense	EXOSC7	NM_015004.3	32	2132,3136,1235	CC,CG,GG		48.7093,32.1607,43.1032	benign	274/292	45052775	7400,5606	2203	4300	6503	SO:0001583	missense	23016	exon8			AGTGTTGTGCACA	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.820G>C	3.37:g.45052775G>C	ENSP00000265564:p.Val274Leu	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	123	6	NM_015004	0	0	0	0	0	Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	CCDS2725.1	1472	0.673992673992674	352	0.7154471544715447	219	0.6049723756906077	525	0.9178321678321678	376	0.49604221635883905	C	0.007	-1.965217	0.00461	0.678393	0.512907	ENSG00000075914	ENST00000265564	T	0.35236	1.32	6.04	2.93	0.34026	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00010	-3.02	0.09310	P	0.999999868643	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35325	-0.9793	9	0.02654	T	1	-2.5299	4.791	0.13248	0.0:0.4471:0.1569:0.3961	rs6794;rs1059918;rs3200759;rs17856408;rs58708695;rs6794	274;274	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	274	ENSP00000265564:V274L	ENSP00000265564:V274L	V	+	1	0	EXOSC7	45027779	0.422000	0.25473	0.001000	0.08648	0.006000	0.05464	0.951000	0.29135	0.170000	0.19704	-2.319000	0.00253	GTG	G|0.396;C|0.604		0.517	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		C	45052775	G	C	45052775	3	2	31	1	0	0	0	0	1	0	0	0	5335	1377	48	3	850	3	EXOSC7	3	45052775	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2265280	45052775	152969655	544	6096											
CSPG5	10675	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	47618883	47618883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagtccttcgaagtaGtcgatgtcaatgatatctga	8	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:47618883G>C	ENST00000383738.2	-	2	2731	c.633C>G	c.(631-633)gaC>gaG	p.D211E	CSPG5_ENST00000456150.1_Missense_Mutation_p.D73E|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.D211E	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	211					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCGAAGTAGTCGATGTCAA	0.592																																					p.D211E		.											.	CSPG5-91	0			c.C633G						.						53	55	54					3																	47618883		2203	4300	6503	SO:0001583	missense	10675	exon2			GAAGTAGTCGATG	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.633C>G	3.37:g.47618883G>C	ENSP00000373244:p.Asp211Glu	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	55	29	NM_006574	0	0	0	0	0	Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452466	0.84209	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.59638	0.25;0.25;0.25	4.26	3.36	0.38483	Chondroitin sulphate attachment (1);	0.124646	0.52532	D	0.000063	T	0.62085	0.2399	L	0.29908	0.895	0.37924	D	0.931796	D;D	0.69078	0.997;0.996	D;D	0.77557	0.936;0.99	T	0.67043	-0.5770	10	0.66056	D	0.02	-25.9588	10.2766	0.43515	0.1014:0.0:0.8986:0.0	.	211;211	O95196;O95196-2	CSPG5_HUMAN;.	E	73;211;211	ENSP00000392096:D73E;ENSP00000373244:D211E;ENSP00000264723:D211E	ENSP00000264723:D211E	D	-	3	2	CSPG5	47593887	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.748000	0.38308	1.100000	0.41517	0.643000	0.83706	GAC	.		0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		C	47618883	G	C	47618883	3	2	31	1	0	0	0	0	1	0	0	0	3970	1020	36	3	1002	3	CSPG5	3	47618883	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2566108	47618883	150403547	545	6097											
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	48607044	48607044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcccccttggcacccCgtgggcctggaggccccagg	13	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:48607044C>G	ENST00000328333.8	-	101	7702	c.7595G>C	c.(7594-7596)cGg>cCg	p.R2532P	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2500P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2532	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)		CTTGGCACCCCGTGGGCCTGG	0.701																																					p.R2532P		.											.	COL7A1-160	0			c.G7595C						.						34	38	37					3																	48607044		2203	4299	6502	SO:0001583	missense	1294	exon101			GCACCCCGTGGGC	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.7595G>C	3.37:g.48607044C>G	ENSP00000332371:p.Arg2532Pro	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	75	44	NM_000094	0	0	0	0	0	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198374	0.22037	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93811	-3.29;-3.29	5.58	-3.51	0.04696	.	0.607787	0.13447	N	0.387219	T	0.76442	0.3988	N	0.01874	-0.695	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.67719	-0.5598	10	0.21540	T	0.41	.	5.9524	0.19255	0.0:0.2906:0.3502:0.3592	.	2532	Q02388	CO7A1_HUMAN	P	2532;2500	ENSP00000332371:R2532P;ENSP00000412569:R2500P	ENSP00000332371:R2532P	R	-	2	0	COL7A1	48582048	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.413000	0.02473	-0.849000	0.04158	0.591000	0.81541	CGG	.		0.701	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		G	48607044	C	G	48607044	3	3	31	1	0	0	0	0	1	0	0	0	3711	652	23	2	1311	2	COL7A1	3	48607044	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	988161	48607044	149415386	546	6098											
AMIGO3	29925	broad.mit.edu	37	chr3	49755684	49755684	+	3'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcagcagcggcagggTggggcgaacaggtagagcag	21	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:49755684T>G	ENST00000480687.1	-	0	4700				AMIGO3_ENST00000320431.7_Silent_p.P405P|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.P405P			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		agcggcagGGTGGGGCGAACA	0.672																																					p.P405P		.											.	AMIGO3-91	0			c.A1215C						.						39	40	40					3																	49755684		2199	4300	6499	SO:0001624	3_prime_UTR_variant	386724	exon1			GCAGGGTGGGGCG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3501A>C	3.37:g.49755684T>G		Somatic	38	1		WXS	Illumina GAIIx	Phase_I	102	21	NM_198722	0	0	0	0	0	A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																			.		0.672	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		G	49755684	T	G	49755684	1	3	31	0	1	0	0	0	0	0	0	0	577	1683	59	5		5	AMIGO3	3	49755684	3'UTR	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1148640	49755684	148266746	547	6099											
DNAH1	25981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52402787	52402787	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atattctcctcgttcatccgGgcgggggccatcacctccga	10	15	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:52402787G>T	ENST00000420323.2	+	37	6057	c.5796G>T	c.(5794-5796)cgG>cgT	p.R1932R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1932	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTCATCCGGGCGGGGGCCA	0.597																																					p.R1932R		.											.	DNAH1-67	0			c.G5796T						.						126	131	130					3																	52402787		2025	4173	6198	SO:0001819	synonymous_variant	25981	exon37			CATCCGGGCGGGG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5796G>T	3.37:g.52402787G>T		Somatic	184	0		WXS	Illumina GAIIx	Phase_I	144	78	NM_015512	0	0	0	0	0	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																			.		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52402787	G	T	52402787	2	4	31	1	0	0	0	0	0	0	0	1	4611	1219	43	3		3	DNAH1	3	52402787	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2647103	52402787	145619643	548	6100											
DNAH12	201625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	57458294	57458294	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcattttcatcaaagatGggattaattttcctaggcca	6	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:57458294G>T	ENST00000351747.2	-	14	1935	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	snoU13_ENST00000459308.1_RNA|DNAH12_ENST00000389536.4_Silent_p.P585P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	585	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCAAAGATGGGATTAATTT	0.313																																					p.P585P		.											.	DNAH12-47	0			c.C1755A						.						118	98	104					3																	57458294		692	1588	2280	SO:0001819	synonymous_variant	201625	exon14			AAAGATGGGATTA	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.1755C>A	3.37:g.57458294G>T		Somatic	249	0		WXS	Illumina GAIIx	Phase_I	207	118	NM_178504	0	0	0	0	0	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																				.		0.313	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57458294	G	T	57458294	2	4	31	1	0	0	0	0	0	0	0	1	4614	1335	47	3		3	DNAH12	3	57458294	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5055507	57458294	140564136	549	6101											
CADPS	8618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	62535700	62535700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgatacatggcctggaccCacaggatgcggtcttgttca	11	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:62535700C>A	ENST00000383710.4	-	11	2193	c.1844G>T	c.(1843-1845)tGg>tTg	p.W615L	CADPS_ENST00000357948.3_Missense_Mutation_p.W615L|CADPS_ENST00000283269.9_Missense_Mutation_p.W615L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	615	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GGCCTGGACCCACAGGATGCG	0.567																																					p.W615L		.											.	CADPS-281	0			c.G1844T						.						157	141	147					3																	62535700		2203	4300	6503	SO:0001583	missense	8618	exon11			TGGACCCACAGGA	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.1844G>T	3.37:g.62535700C>A	ENSP00000373215:p.Trp615Leu	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	166	90	NM_003716	0	0	0	0	0	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.750323|4.750323	0.89753|0.89753	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.|T;T;T;D	.|0.97016	.|0.52;0.54;0.52;-4.21	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98074|0.98074	0.9365|0.9365	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.998;0.996;0.999;0.998	.|D;D;D;D	.|0.85130	.|0.947;0.993;0.997;0.972	D|D	0.98797|0.98797	1.0738|1.0738	5|10	.|0.72032	.|D	.|0.01	.|.	18.2011|18.2011	0.89838|0.89838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|615;615;615;615	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	W|L	46|615;615;615;615;110	.|ENSP00000373215:W615L;ENSP00000350632:W615L;ENSP00000283269:W615L;ENSP00000439528:W110L	.|ENSP00000283269:W615L	G|W	-|-	1|2	0|0	CADPS|CADPS	62510740|62510740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.609000|7.609000	0.82925|0.82925	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGG|TGG	.		0.567	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		A	62535700	C	A	62535700	3	1	31	1	0	0	0	0	1	0	0	0	2577	595	21	3	2370	3	CADPS	3	62535700	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5077406	62535700	135486730	550	6102											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	31	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4015056	66550756	131471674	551	6103	49	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	31	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6	66550762	131471668	552	6104	49	2									
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	77607213	77607213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcttcctgtaattagCtggttaaaggagggatttac	10	7	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:77607213C>A	ENST00000461745.1	+	9	2250	c.1350C>A	c.(1348-1350)agC>agA	p.S450R	ROBO2_ENST00000487694.3_Missense_Mutation_p.S466R|ROBO2_ENST00000332191.8_Missense_Mutation_p.S450R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	450	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTAATTAGCTGGTTAAAGG	0.438																																					p.S450R		.											.	ROBO2-328	0			c.C1350A						.						112	112	112					3																	77607213		1881	4107	5988	SO:0001583	missense	6092	exon9			AATTAGCTGGTTA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1350C>A	3.37:g.77607213C>A	ENSP00000417164:p.Ser450Arg	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	130	70	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080126	0.20309	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.69926	-0.44;-0.44;-0.44	5.68	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000038	T	0.53270	0.1786	N	0.12831	0.26	0.43471	D	0.995684	B;P;B	0.46327	0.05;0.876;0.05	B;P;B	0.48952	0.101;0.596;0.101	T	0.57418	-0.7815	9	0.10377	T	0.69	.	13.1246	0.59346	0.0:0.9258:0.0:0.0742	.	466;450;450	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	466;466;470;450;450;171	ENSP00000417335:S466R;ENSP00000417164:S450R;ENSP00000327536:S450R	ENSP00000327536:S450R	S	+	3	2	ROBO2	77689903	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.068000	0.57534	1.542000	0.49330	0.585000	0.79938	AGC	.		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77607213	C	A	77607213	3	1	31	1	0	0	0	0	1	0	0	0	13559	796	28	3	1386	3	ROBO2	3	77607213	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11056451	77607213	120415217	553	6105											
ROBO1	6091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	78795964	78795964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgggctcaggatggcCtcgtggaggttggcattcca	16	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:78795964C>A	ENST00000464233.1	-	5	699	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	ROBO1_ENST00000467549.1_Missense_Mutation_p.G157C|ROBO1_ENST00000436010.2_Missense_Mutation_p.G157C|ROBO1_ENST00000495273.1_Missense_Mutation_p.G157C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	196	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCAGGATGGCCTCGTGGAGGT	0.458																																					p.G196C		.											.	ROBO1-67	0			c.G586T						.						126	125	125					3																	78795964		1912	4118	6030	SO:0001583	missense	6091	exon5			GATGGCCTCGTGG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.586G>T	3.37:g.78795964C>A	ENSP00000420321:p.Gly196Cys	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	79	44	NM_002941	0	0	0	0	0	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529306	0.64860	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	H	0.96547	3.84	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	0.94871	0.8030	9	.	.	.	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	196;157;157;157	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	C	157;157;196;157;157;196	ENSP00000406043:G157C;ENSP00000420321:G196C;ENSP00000420637:G157C;ENSP00000417992:G157C	.	G	-	1	0	ROBO1	78878654	1.000000	0.71417	0.997000	0.53966	0.013000	0.08279	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	GGC	.		0.458	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78795964	C	A	78795964	3	1	31	1	0	0	0	0	1	0	0	0	13558	681	24	3	4490	3	ROBO1	3	78795964	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1188751	78795964	119226466	554	6106											
POU1F1	5449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	87322579	87322579	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctgttgctgtgtttccCaacgttgtcaccgagaaatg	10	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:87322579C>A	ENST00000350375.2	-	2	267				POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.L70F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1						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)	p.L70L(1)		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)		CTGTGTTTCCCAACGTTGTCA	0.398																																					p.L70F		.											.	POU1F1-226	1	Substitution - coding silent(1)	endometrium(1)	c.G210T						.						105	92	96					3																	87322579		2203	4300	6503	SO:0001627	intron_variant	5449	exon2			GTTTCCCAACGTT	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.143-11G>T	3.37:g.87322579C>A		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	79	46	NM_001122757	0	0	0	0	0	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274636	0.23307	.	.	ENSG00000064835	ENST00000344265	T	0.63744	-0.06	5.78	3.74	0.42951	.	0.883066	0.09818	N	0.751879	T	0.52451	0.1735	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33240	-0.9876	8	.	.	.	.	16.2012	0.82078	0.2535:0.7465:0.0:0.0	.	70	P28069-2	.	F	70	ENSP00000342931:L70F	.	L	-	3	2	POU1F1	87405269	0.746000	0.28272	0.970000	0.41538	0.433000	0.31745	0.455000	0.21843	1.370000	0.46153	0.585000	0.79938	TTG	.		0.398	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		A	87322579	C	A	87322579	1	1	31	0	1	0	0	0	0	0	0	0	12308	593	21	3		3	POU1F1	3	87322579	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8526615	87322579	110699851	555	6107											
PROS1	5627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	93617357	93617357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcacaatagcaagtgtaacCtccagggtaattgacacaaa	7	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:93617357C>A	ENST00000394236.3	-	8	1100	c.784G>T	c.(784-786)Ggt>Tgt	p.G262C	PROS1_ENST00000407433.1_Missense_Mutation_p.G131C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	262	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAAGTGTAACCTCCAGGGTAA	0.388																																					p.G262C		.											.	PROS1-153	0			c.G784T						.						97	90	92					3																	93617357		2203	4300	6503	SO:0001583	missense	5627	exon8			TGTAACCTCCAGG		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.784G>T	3.37:g.93617357C>A	ENSP00000377783:p.Gly262Cys	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	175	35	NM_000313	0	0	0	0	0	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407097	0.62399	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.93659	-3.26;-3.26	4.26	2.12	0.27331	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.165191	0.52532	D	0.000069	D	0.94026	0.8086	M	0.80616	2.505	0.36882	D	0.88947	D	0.69078	0.997	P	0.54499	0.754	D	0.92895	0.6334	10	0.66056	D	0.02	.	6.2034	0.20590	0.0:0.4374:0.0:0.5626	.	262	P07225	PROS_HUMAN	C	262;131	ENSP00000377783:G262C;ENSP00000385794:G131C	ENSP00000377783:G262C	G	-	1	0	PROS1	95100047	0.990000	0.36364	0.924000	0.36721	0.971000	0.66376	0.892000	0.28322	0.371000	0.24564	0.585000	0.79938	GGT	.		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		A	93617357	C	A	93617357	3	1	31	1	0	0	0	0	1	0	0	0	12600	681	24	3	1278	3	PROS1	3	93617357	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6294778	93617357	104405073	556	6108											
EPHA6	285220	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	97466266	97466266	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttgttttgttttcttacaGaatgccagagtcccctggtg	9	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:97466266G>T	ENST00000389672.5	+	17	3166		c.e17-1			NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ttttCTTACAGAATGCCAGAG	0.353																																					.		.											.	EPHA6-1561	0			c.3129-1G>T						.						50	45	46					3																	97466266		1819	4081	5900	SO:0001630	splice_region_variant	285220	exon17			CTTACAGAATGCC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3129-1G>T	3.37:g.97466266G>T		Somatic	61	1		WXS	Illumina GAIIx	Phase_I	47	15	NM_001080448	0	0	0	0	0	D6RAL5	Splice_Site	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210353	0.58343	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5176	0.95170	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98948956	1.000000	0.71417	0.997000	0.53966	0.652000	0.38707	5.803000	0.69129	2.688000	0.91661	0.585000	0.79938	.	.		0.353	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Intron	T	97466266	G	T	97466266	5	4	31	1	0	0	0	0	0	0	1	0	5187	956	33	3	3311	3	EPHA6	3	97466266	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3848909	97466266	100556164	557	6109											
OR5AC2	81050	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	97806110	97806110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtcctcttctttgttGtgtttttggtggtctatctc	9	9	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:97806110G>T	ENST00000358642.2	+	1	94	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	32					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						CTTCTTTGTTGTGTTTTTGGT	0.443																																					p.V32L		.											.	OR5AC2-69	0			c.G94T						.						302	278	286					3																	97806110		2203	4300	6503	SO:0001583	missense	81050	exon1			TTTGTTGTGTTTT	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.94G>T	3.37:g.97806110G>T	ENSP00000351466:p.Val32Leu	Somatic	160	2		WXS	Illumina GAIIx	Phase_I	169	38	NM_054106	0	0	0	0	0		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	6.751	0.507303	0.12883	.	.	ENSG00000196578	ENST00000358642	T	0.00682	5.86	5.2	-2.72	0.05968	.	0.524818	0.14033	U	0.345981	T	0.00412	0.0013	N	0.05351	-0.065	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.45264	-0.9273	10	0.02654	T	1	-4.7012	7.7808	0.29064	0.2485:0.5296:0.222:0.0	.	32	Q9NZP5	O5AC2_HUMAN	L	32	ENSP00000351466:V32L	ENSP00000351466:V32L	V	+	1	0	OR5AC2	99288800	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-5.368000	0.00128	-0.020000	0.14032	0.596000	0.82720	GTG	.		0.443	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			T	97806110	G	T	97806110	3	4	31	1	0	0	0	0	1	0	0	0	11180	1377	48	3	96	3	OR5AC2	3	97806110	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	339844	97806110	100216320	558	6110											
OR5H2	79310	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	98002120	98002120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatatgatcgctatgtagCcatatgcaaacctttactat	7	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:98002120C>A	ENST00000355273.2	+	1	389	c.389C>A	c.(388-390)gCc>gAc	p.A130D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CGCTATGTAGCCATATGCAAA	0.373																																					p.A130D		.											.	OR5H2-71	0			c.C389A						.						111	103	105					3																	98002120		2203	4300	6503	SO:0001583	missense	79310	exon1			ATGTAGCCATATG		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.389C>A	3.37:g.98002120C>A	ENSP00000347418:p.Ala130Asp	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	147	54	NM_001005482	0	0	0	0	0	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091708	0.76756	.	.	ENSG00000197938	ENST00000355273	T	0.01234	5.13	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	U	0.001349	T	0.16599	0.0399	H	0.99299	4.505	0.41608	D	0.988895	D	0.89917	1.0	D	0.97110	1.0	T	0.31530	-0.9940	10	0.87932	D	0	.	12.205	0.54346	0.0:1.0:0.0:0.0	.	130	Q8NGV7	OR5H2_HUMAN	D	130	ENSP00000347418:A130D	ENSP00000347418:A130D	A	+	2	0	OR5H2	99484810	1.000000	0.71417	0.902000	0.35471	0.989000	0.77384	7.045000	0.76585	1.787000	0.52448	0.543000	0.68304	GCC	.		0.373	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			A	98002120	C	A	98002120	3	1	31	1	0	0	0	0	1	0	0	0	11201	739	26	3	391	3	OR5H2	3	98002120	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	196010	98002120	100020310	559	6111											
IMPG2	50939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	100948383	100948383	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatacacggggttgtaCttcacagcattctcaataga	7	10	3	1	rs566459355		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:100948383C>G	ENST00000193391.7	-	17	3661	c.3474G>C	c.(3472-3474)aaG>aaC	p.K1158N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1158					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)	CGGGGTTGTACTTCACAGCAT	0.488																																					p.K1158N		.											.	IMPG2-93	0			c.G3474C						.						79	77	78					3																	100948383		2203	4300	6503	SO:0001583	missense	50939	exon17			GTTGTACTTCACA	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.3474G>C	3.37:g.100948383C>G	ENSP00000193391:p.Lys1158Asn	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	93	54	NM_016247	0	0	0	0	0	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623199	0.66901	.	.	ENSG00000081148	ENST00000193391;ENST00000417518	T	0.35048	1.33	5.5	1.75	0.24633	.	0.141780	0.47852	D	0.000213	T	0.51770	0.1694	M	0.70275	2.135	0.41006	D	0.984961	D;D	0.71674	0.998;0.998	P;P	0.62560	0.904;0.904	T	0.52888	-0.8515	10	0.87932	D	0	-12.0856	10.1966	0.43058	0.0:0.5997:0.0:0.4003	.	1158;1158	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	1158;55	ENSP00000193391:K1158N	ENSP00000193391:K1158N	K	-	3	2	IMPG2	102431073	0.921000	0.31238	0.287000	0.24848	0.948000	0.59901	0.081000	0.14823	0.048000	0.15891	0.655000	0.94253	AAG	.		0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			G	100948383	C	G	100948383	3	3	31	1	0	0	0	0	1	0	0	0	7756	564	20	3	263	3	IMPG2	3	100948383	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2946263	100948383	97074047	560	6112											
MORC1	27136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	108812300	108812300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcctccagagctccagcCatcagtatatcttctttgtc	5	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:108812300C>A	ENST00000483760.1	-	8	715	c.672G>T	c.(670-672)atG>atT	p.M224I	MORC1_ENST00000232603.5_Missense_Mutation_p.M224I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAGCTCCAGCCATCAGTATAT	0.428																																					p.M224I		.											.	MORC1-98	0			c.G672T						.						159	142	148					3																	108812300		2203	4300	6503	SO:0001583	missense	27136	exon8			TCCAGCCATCAGT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.672G>T	3.37:g.108812300C>A	ENSP00000417282:p.Met224Ile	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	12	NM_014429	0	0	0	0	0		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	2.980	-0.210580	0.06140	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.72725	-0.68;-0.68	4.75	-3.0	0.05480	ATPase-like, ATP-binding domain (1);	0.695782	0.13420	N	0.389276	T	0.39963	0.1098	N	0.11724	0.165	0.23773	N	0.996882	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.30297	-0.9983	10	0.08179	T	0.78	-5.0E-4	4.5249	0.11976	0.2453:0.368:0.0:0.3866	.	224;224	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	224	ENSP00000232603:M224I;ENSP00000417282:M224I	ENSP00000232603:M224I	M	-	3	0	MORC1	110294990	0.915000	0.31059	0.323000	0.25347	0.250000	0.25880	0.141000	0.16076	-0.246000	0.09611	-0.145000	0.13849	ATG	.		0.428	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108812300	C	A	108812300	3	1	31	1	0	0	0	0	1	0	0	0	9739	594	21	3	2366	3	MORC1	3	108812300	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7863917	108812300	89210130	561	6113											
SLC9A10	285335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	111898522	111898522	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactccaccatttgatcaatCcctaaacctggctttgattt	5	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:111898522C>T	ENST00000305815.5	-	23	3027	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G	SLC9C1_ENST00000487372.1_Silent_p.G877G	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	925					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)										TTTGATCAATCCCTAAACCTG	0.333																																					p.G925G		.											.	.	0			c.G2775A						.						62	62	62					3																	111898522		2203	4299	6502	SO:0001819	synonymous_variant	285335	exon23			ATCAATCCCTAAA	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.2775G>A	3.37:g.111898522C>T		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	20	11	NM_183061	0	0	0	0	0	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																			.		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111898522	C	T	111898522	2	4	31	1	0	0	0	0	0	0	0	1	14755	842	30	3		3	SLC9A10	3	111898522	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3086222	111898522	86123908	562	6114											
BOC	91653	broad.mit.edu;bcgsc.ca	37	chr3	112992151	112992151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgagaacgaggttgggagCgcccatgccgtagtccagct	15	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:112992151C>A	ENST00000495514.1	+	8	1901	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	BOC_ENST00000273395.4_Missense_Mutation_p.S399R|BOC_ENST00000355385.3_Missense_Mutation_p.S399R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	399	Ig-like C2-type 4.				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)			AGGTTGGGAGCGCCCATGCCG	0.622																																					p.S399R		.											.	BOC-157	0			c.C1197A						.						34	25	28					3																	112992151		2200	4296	6496	SO:0001583	missense	91653	exon8			TGGGAGCGCCCAT	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.1197C>A	3.37:g.112992151C>A	ENSP00000418663:p.Ser399Arg	Somatic	67	2		WXS	Illumina GAIIx	Phase_I	124	76	NM_033254	0	0	0	0	0	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984268	0.35036	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.68025	-0.3;-0.3;-0.3	5.66	-8.47	0.00939	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.27053	0.805	0.38023	D	0.934905	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.78537	-0.2166	10	0.56958	D	0.05	.	21.5782	0.99957	0.0:0.2939:0.0:0.7061	.	399;399	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	R	399	ENSP00000418663:S399R;ENSP00000273395:S399R;ENSP00000347546:S399R	ENSP00000273395:S399R	S	+	3	2	BOC	114474841	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-3.107000	0.00601	-2.378000	0.00596	-1.945000	0.00491	AGC	.		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	112992151	C	A	112992151	3	1	31	1	0	0	0	0	1	0	0	0	1483	767	27	2	1219	2	BOC	3	112992151	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1093629	112992151	85030279	563	6115											
SIDT1	54847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	113304098	113304098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgggatgccttcttgttGggtttgttcattatctgagg	12	6	3	1	rs199757460		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:113304098G>T	ENST00000264852.4	+	9	1708	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	SIDT1_ENST00000393830.3_Missense_Mutation_p.G328W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	328					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						CCTTCTTGTTGGGTTTGTTCA	0.408																																					p.G328W		.											.	SIDT1-95	0			c.G982T						.						380	346	358					3																	113304098		2203	4300	6503	SO:0001583	missense	54847	exon9			CTTGTTGGGTTTG	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.982G>T	3.37:g.113304098G>T	ENSP00000264852:p.Gly328Trp	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	101	54	NM_017699	0	0	0	0	0	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707815	0.48412	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.21932	1.98;1.98	5.62	4.72	0.59763	.	0.390084	0.24386	N	0.038967	T	0.18676	0.0448	N	0.03608	-0.345	0.25030	N	0.991272	P;P	0.51653	0.947;0.937	P;P	0.54856	0.649;0.762	T	0.20405	-1.0276	10	0.42905	T	0.14	-0.0435	15.3108	0.74031	0.0:0.0:0.8485:0.1515	.	328;328	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	328	ENSP00000264852:G328W;ENSP00000377416:G328W	ENSP00000264852:G328W	G	+	1	0	SIDT1	114786788	0.940000	0.31905	0.046000	0.18839	0.493000	0.33554	2.774000	0.47694	1.430000	0.47334	0.655000	0.94253	GGG	G|1.000;A|0.000		0.408	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113304098	G	T	113304098	3	4	31	1	0	0	0	0	1	0	0	0	14347	1348	47	3	1016	3	SIDT1	3	113304098	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	311947	113304098	84718332	564	6116											
IGSF11	152404	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	118621406	118621406	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgactctgggctggtaccatGacaggtactgcaccaattcg	11	12	1	1	rs148424020		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:118621406G>T	ENST00000393775.2	-	7	1562	c.1257C>A	c.(1255-1257)gtC>gtA	p.V419V	IGSF11_ENST00000425327.2_Silent_p.V418V|IGSF11_ENST00000489689.1_Silent_p.V395V|IGSF11_ENST00000491903.1_Silent_p.V391V|IGSF11_ENST00000354673.2_Silent_p.V418V|IGSF11_ENST00000441144.2_Silent_p.V394V	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	419					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGTACCATGACAGGTACTG	0.527																																					p.V419V		.											.	IGSF11-90	0			c.C1257A						.						137	126	130					3																	118621406		2203	4300	6503	SO:0001819	synonymous_variant	152404	exon7			TACCATGACAGGT	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1257C>A	3.37:g.118621406G>T		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	151	15	NM_001015887	0	0	0	0	0	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	CCDS46891.1																																																																																			G|1.000;A|0.000		0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			T	118621406	G	T	118621406	2	4	31	1	0	0	0	0	0	0	0	1	7625	1277	45	3		3	IGSF11	3	118621406	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5317308	118621406	79401024	565	6117											
LRRC58	116064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	120053716	120053716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaattaacttacctccacaCtttgggtttgggcaattgct	8	9	0	1	rs34873834		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:120053716C>A	ENST00000295628.3	-	3	995	c.900G>T	c.(898-900)aaG>aaT	p.K300N		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	300										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TACCTCCACACTTTGGGTTTG	0.363																																					p.K300N		.											.	.	0			c.G900T						.						52	46	48					3																	120053716		1815	4079	5894	SO:0001583	missense	116064	exon3			TCCACACTTTGGG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.900G>T	3.37:g.120053716C>A	ENSP00000295628:p.Lys300Asn	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	93	12	NM_001099678	0	0	0	0	0		Missense_Mutation	SNP	ENST00000295628.3	37	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748740	0.15710	.	.	ENSG00000163428	ENST00000295628	T	0.41400	1.0	5.18	-0.993	0.10228	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.42744	1.35	0.49582	D	0.999805	D	0.62365	0.991	P	0.58013	0.831	T	0.20874	-1.0262	10	0.26408	T	0.33	-15.4348	10.5703	0.45196	0.0:0.466:0.0:0.534	.	300	Q96CX6	LRC58_HUMAN	N	300	ENSP00000295628:K300N	ENSP00000295628:K300N	K	-	3	2	LRRC58	121536406	0.867000	0.29959	0.993000	0.49108	0.904000	0.53231	-0.016000	0.12613	-0.256000	0.09473	-1.936000	0.00505	AAG	.		0.363	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		A	120053716	C	A	120053716	3	1	31	1	0	0	0	0	1	0	0	0	9049	564	20	3	223	3	LRRC58	3	120053716	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1432310	120053716	77968714	566	6118											
HGD	3081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgggttcctggaGttgggagtgaagtggctctt	17	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468																																					p.N437K		.											.	HGD-68	0			c.C1311A						.						189	186	187					3																	120347254		2203	4296	6499	SO:0001583	missense	3081	exon14			CCTGGAGTTGGGA		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1311C>A	3.37:g.120347254G>T	ENSP00000283871:p.Asn437Lys	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	120	20	NM_000187	0	0	0	0	0	A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142054	0.21205	.	.	ENSG00000113924	ENST00000283871	D	0.98978	-5.29	5.02	-4.71	0.03279	Cupin, RmlC-type (1);	0.287715	0.36167	N	0.002741	D	0.95271	0.8466	L	0.41415	1.275	0.34915	D	0.747828	B	0.02656	0.0	B	0.04013	0.001	D	0.86513	0.1811	10	0.18710	T	0.47	-5.4857	7.078	0.25215	0.1867:0.1215:0.573:0.1188	.	437	Q93099	HGD_HUMAN	K	437	ENSP00000283871:N437K	ENSP00000283871:N437K	N	-	3	2	HGD	121829944	0.967000	0.33354	0.778000	0.31720	0.342000	0.28953	0.142000	0.16096	-0.406000	0.07588	-1.264000	0.01445	AAC	.		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			T	120347254	G	T	120347254	3	4	31	1	0	0	0	0	1	0	0	0	7111	1020	36	3	30	3	HGD	3	120347254	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	293538	120347254	77675176	567	6119											
FBXO40	51725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	121340603	121340603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatgtggactctgaaacCacccttcatgaaaacatcat	5	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:121340603C>T	ENST00000338040.4	+	3	741	c.327C>T	c.(325-327)acC>acT	p.T109T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	109					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACTCTGAAACCACCCTTCATG	0.562																																					p.T109T		.											.	FBXO40-273	0			c.C327T						.						54	58	56					3																	121340603		2203	4300	6503	SO:0001819	synonymous_variant	51725	exon3			TGAAACCACCCTT	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.327C>T	3.37:g.121340603C>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	95	50	NM_016298	0	0	0	0	0	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																			.		0.562	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		T	121340603	C	T	121340603	2	4	31	1	0	0	0	0	0	0	0	1	5771	581	21	3		3	FBXO40	3	121340603	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	993349	121340603	76681827	568	6120											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	18	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	31	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1291293	122631896	75390534	569	6121											
SEMA5B	54437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	122680055	122680055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgttgggctggggtatcaGgcggcccagggacgaggtgg	21	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:122680055G>T	ENST00000357599.3	-	2	442	c.56C>A	c.(55-57)cCt>cAt	p.P19H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P73H|SEMA5B_ENST00000195173.4_Missense_Mutation_p.P19H|SEMA5B_ENST00000465147.1_Intron	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	19					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)		TGGGGTATCAGGCGGCCCAGG	0.632																																					p.P73H		.											.	SEMA5B-157	0			c.C218A						.						74	66	69					3																	122680055		2203	4300	6503	SO:0001583	missense	54437	exon2			GTATCAGGCGGCC	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.56C>A	3.37:g.122680055G>T	ENSP00000350215:p.Pro19His	Somatic	248	1		WXS	Illumina GAIIx	Phase_I	297	159	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215497	0.39102	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.36699	1.31;1.24;1.3;1.41	4.15	-0.165	0.13355	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.21917	0.037	T	0.19321	-1.0309	9	0.87932	D	0	.	4.1852	0.10395	0.2347:0.3701:0.3952:0.0	.	19	Q9P283	SEM5B_HUMAN	H	19;19;73;19;19;19	ENSP00000350215:P19H;ENSP00000195173:P19H;ENSP00000389588:P73H;ENSP00000377208:P19H	ENSP00000195173:P19H	P	-	2	0	SEMA5B	124162745	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.158000	0.10070	0.336000	0.23639	0.591000	0.81541	CCT	.		0.632	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122680055	G	T	122680055	3	4	31	1	0	0	0	0	1	0	0	0	14083	1000	35	3	3487	3	SEMA5B	3	122680055	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	48159	122680055	75342375	570	6122											
KALRN	8997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	124017695	124017695	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccagagccacacggagatcGgagtcagctaccagtacgcc	11	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:124017695G>C	ENST00000240874.3	+	6	1178	c.1021G>C	c.(1021-1023)Gga>Cga	p.G341R	KALRN_ENST00000460856.1_Missense_Mutation_p.G341R|KALRN_ENST00000360013.3_Missense_Mutation_p.G341R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	341					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACGGAGATCGGAGTCAGCTA	0.522																																					p.G341R		.											.	KALRN-738	0			c.G1021C						.						212	191	198					3																	124017695		2203	4300	6503	SO:0001583	missense	8997	exon6			GAGATCGGAGTCA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1021G>C	3.37:g.124017695G>C	ENSP00000240874:p.Gly341Arg	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	214	107	NM_003947	0	0	0	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242015	0.95272	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.57595	0.39;0.39;0.39	5.55	5.55	0.83447	.	0.138313	0.47852	D	0.000207	T	0.75874	0.3909	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.985	T	0.77776	-0.2461	10	0.87932	D	0	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	341;341;341	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	R	341	ENSP00000418611:G341R;ENSP00000240874:G341R;ENSP00000353109:G341R	ENSP00000240874:G341R	G	+	1	0	KALRN	125500385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.894000	0.99253	0.655000	0.94253	GGA	.		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		C	124017695	G	C	124017695	3	2	31	1	0	0	0	0	1	0	0	0	8002	1117	39	2	1043	2	KALRN	3	124017695	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1337640	124017695	74004735	571	6123											
ALDH1L1	10840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	125869263	125869263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttacccgcacagcctccgCagtaaccagctctgcctctg	7	18	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:125869263C>A	ENST00000393434.2	-	8	1319	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A334S|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A324S|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A324S|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A223S	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	324	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAGCCTCCGCAGTAACCAGC	0.557																																					p.A334S		.											.	ALDH1L1-156	0			c.G1000T						.						56	52	53					3																	125869263		1897	3590	5487	SO:0001583	missense	10840	exon8			CCTCCGCAGTAAC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.970G>T	3.37:g.125869263C>A	ENSP00000377083:p.Ala324Ser	Somatic	261	0		WXS	Illumina GAIIx	Phase_I	291	73	NM_001270364	0	0	0	0	0	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	5.251	0.231815	0.09969	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;3.27	4.4	3.45	0.39498	Acyl carrier protein-like (3);	0.213054	0.39341	N	0.001387	T	0.58250	0.2109	L	0.34521	1.04	0.38564	D	0.949782	B;B;B	0.23058	0.079;0.009;0.005	B;B;B	0.23852	0.049;0.006;0.004	T	0.52682	-0.8543	10	0.31617	T	0.26	.	4.5063	0.11889	0.2096:0.6626:0.0:0.1278	.	223;376;324	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	S	334;324;223;324;324	ENSP00000273450:A334S;ENSP00000420293:A324S;ENSP00000395881:A223S;ENSP00000377083:A324S;ENSP00000377081:A324S	ENSP00000273450:A334S	A	-	1	0	ALDH1L1	127351953	0.998000	0.40836	0.002000	0.10522	0.096000	0.18686	4.022000	0.57203	0.932000	0.37266	0.491000	0.48974	GCG	.		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		A	125869263	C	A	125869263	3	1	31	1	0	0	0	0	1	0	0	0	494	710	25	3	1802	3	ALDH1L1	3	125869263	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1851568	125869263	72153167	572	6124											
UROC1	131669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	126224620	126224620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcattccgccgagcccagagGtgacaaagaccttcccagcc	9	16	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:126224620G>C	ENST00000290868.2	-	8	790	c.737C>G	c.(736-738)aCc>aGc	p.T246S	UROC1_ENST00000383579.3_Missense_Mutation_p.T246S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	246					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)		GAGCCCAGAGGTGACAAAGAC	0.627																																					p.T246S		.											.	UROC1-91	0			c.C737G						.						78	65	69					3																	126224620		2203	4300	6503	SO:0001583	missense	131669	exon8			CCAGAGGTGACAA	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.737C>G	3.37:g.126224620G>C	ENSP00000290868:p.Thr246Ser	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	226	50	NM_001165974	0	0	0	0	0	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	15.41	2.826808	0.50739	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.52295	0.67;0.67	4.66	4.66	0.58398	Urocanase domain (2);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	L	0.50993	1.605	0.58432	D	0.999993	P;B	0.44877	0.845;0.327	P;P	0.54140	0.743;0.459	T	0.47995	-0.9073	10	0.22109	T	0.4	-31.222	15.0337	0.71728	0.0:0.0:1.0:0.0	.	246;246	E9PE13;Q96N76	.;HUTU_HUMAN	S	246	ENSP00000290868:T246S;ENSP00000373073:T246S	ENSP00000290868:T246S	T	-	2	0	UROC1	127707310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.843000	0.92142	2.129000	0.65627	0.574000	0.79327	ACC	.		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		C	126224620	G	C	126224620	3	2	31	1	0	0	0	0	1	0	0	0	17077	1261	44	3	1529	3	UROC1	3	126224620	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	355357	126224620	71797810	573	6125											
PODXL2	50512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	127387303	127387303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgttccggcagcaccGggggccacagctcctggccc	16	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:127387303G>T	ENST00000342480.6	+	5	1265	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	409					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCAGCACCGGGGGCCACAG	0.657																																					p.R409L		.											.	PODXL2-91	0			c.G1226T						.						12	13	12					3																	127387303		2198	4296	6494	SO:0001583	missense	50512	exon5			AGCACCGGGGGCC	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1226G>T	3.37:g.127387303G>T	ENSP00000345359:p.Arg409Leu	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	270	143	NM_015720	0	0	0	0	0	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153437	0.57259	.	.	ENSG00000114631	ENST00000342480	T	0.23348	1.91	4.89	4.89	0.63831	.	0.149020	0.44902	D	0.000409	T	0.24392	0.0591	L	0.54323	1.7	0.34592	D	0.71563	P	0.40970	0.734	B	0.36666	0.23	T	0.44682	-0.9312	10	0.62326	D	0.03	-13.8918	11.5536	0.50735	0.0824:0.0:0.9176:0.0	.	409	Q9NZ53	PDXL2_HUMAN	L	409	ENSP00000345359:R409L	ENSP00000345359:R409L	R	+	2	0	PODXL2	128869993	0.993000	0.37304	0.996000	0.52242	0.955000	0.61496	2.079000	0.41577	2.248000	0.74166	0.467000	0.42956	CGG	.		0.657	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		T	127387303	G	T	127387303	3	4	31	1	0	0	0	0	1	0	0	0	12220	1116	39	2	1244	2	PODXL2	3	127387303	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1162683	127387303	70635127	574	6126											
IFT122	55764	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	129239080	129239080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctgcccctactgccGcaggtgcaaggatgaccctg	13	14	0	1	rs201755623		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129239080G>T	ENST00000348417.2	+	30	3775	c.3698G>T	c.(3697-3699)cGc>cTc	p.R1233L	IFT122_ENST00000347300.2_Missense_Mutation_p.R1174L|IFT122_ENST00000440957.2_Missense_Mutation_p.R1024L|IFT122_ENST00000296266.3_Missense_Mutation_p.R1284L|IFT122_ENST00000504021.1_Missense_Mutation_p.R1110L|IFT122_ENST00000431818.2_Missense_Mutation_p.R1083L|IFT122_ENST00000349441.2_Missense_Mutation_p.R1123L|IFT122_ENST00000507564.1_Missense_Mutation_p.R1226L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1233					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.R1284H(2)		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						CCCTACTGCCGCAGGTGCAAG	0.587																																					p.R1284L		.											.	IFT122-92	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3851T						.						76	62	67					3																	129239080		2203	4300	6503	SO:0001583	missense	55764	exon31			ACTGCCGCAGGTG	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.3698G>T	3.37:g.129239080G>T	ENSP00000324005:p.Arg1233Leu	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	106	64	NM_052985	0	0	0	0	0	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	28.0	4.878122	0.91664	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.71103	0.13;-0.54;-0.38;-0.33;0.3;0.28;0.11;-0.29	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.84585	2.705	0.80722	D	1	P;D;P;D;D;D;D;D;P;P	0.89917	0.841;0.993;0.719;1.0;0.988;0.996;0.998;0.993;0.753;0.904	B;P;B;D;D;D;D;D;B;B	0.76575	0.358;0.88;0.103;0.988;0.944;0.973;0.944;0.975;0.195;0.358	D	0.86854	0.2025	10	0.87932	D	0	-23.6646	14.2837	0.66232	0.0708:0.0:0.9292:0.0	.	1024;559;1226;621;1110;1075;1123;1174;1233;1284	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	L	1174;1284;1226;1083;1110;1123;1233;1075;1024	ENSP00000323973:R1174L;ENSP00000296266:R1284L;ENSP00000425536:R1226L;ENSP00000410946:R1083L;ENSP00000422179:R1110L;ENSP00000324165:R1123L;ENSP00000324005:R1233L;ENSP00000401569:R1024L	ENSP00000296266:R1284L	R	+	2	0	IFT122	130721770	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	7.955000	0.87856	2.757000	0.94681	0.655000	0.94253	CGC	G|0.999;A|0.001		0.587	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		T	129239080	G	T	129239080	3	4	31	1	0	0	0	0	1	0	0	0	7582	1087	38	2	3976	2	IFT122	3	129239080	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1851777	129239080	68783350	575	6127											
TMCC1	23023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	129373858	129373858	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgatacgcgattttttcttCcatgcttgccagttcctgct	7	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129373858C>A	ENST00000393238.3	-	5	1940	c.1600G>T	c.(1600-1602)Gaa>Taa	p.E534*	TMCC1_ENST00000329333.5_Nonsense_Mutation_p.E355*|TMCC1_ENST00000432054.2_Nonsense_Mutation_p.E210*|TMCC1_ENST00000426664.2_Nonsense_Mutation_p.E420*	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	534						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						ATTTTTTCTTCCATGCTTGCC	0.418																																					p.E534X		.											.	TMCC1-91	0			c.G1600T						.						149	147	147					3																	129373858		2203	4300	6503	SO:0001587	stop_gained	23023	exon5			TTTCTTCCATGCT	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.1600G>T	3.37:g.129373858C>A	ENSP00000376930:p.Glu534*	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	105	21	NM_001017395	0	0	0	0	0	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Nonsense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138031	0.97315	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333;ENST00000510323	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.8918	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	210;534;420;355;2	.	ENSP00000327349:E355X	E	-	1	0	TMCC1	130856548	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.813000	0.86123	2.830000	0.97506	0.585000	0.79938	GAA	.		0.418	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		A	129373858	C	A	129373858	4	1	31	1	0	0	0	0	0	1	0	0	16039	864	30	3	369	3	TMCC1	3	129373858	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	134778	129373858	68648572	576	6128											
TRH	7200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	129695711	129695712	+	Missense_Mutation	DNP	CG	CG	AA													gatgaggcttcatggtcagtCgatgtaacccagcacaagcg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129695711_129695712CG>AA	ENST00000302649.3	+	3	908_909	c.381_382CG>AA	c.(379-384)gtCGat>gtAAat	p.D128N	TRH_ENST00000507066.1_Missense_Mutation_p.D124N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	128					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATGGTCAGTCGATGTAACCCA	0.619																																					p.D128N	Esophageal Squamous(60;321 1330 17401 41911)	.											.	TRH-91	0			c.G382A						.																																			SO:0001583	missense	7200	exon3			TCAGTCGATGTAA		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		Exception_encountered	3.37:g.129695711_129695712delinsAA	ENSP00000303452:p.Asp128Asn	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	188	5	NM_007117	0	0	0	0	0	B2R8R1|Q2TB83	Missense_Mutation	DNP	ENST00000302649.3	37	CCDS3066.1																																																																																			.		0.619	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		AA	129695712	CG	AA	129695711	3	1	31	1	0	0	0	0	1	0	0	0	16526	871	31	2	387	2	TRH	3	129695711	Missense_Mutation	DNP	CG	TCGA-OR-A5KB-01A-11D-A30A-10	321853	129695711	68326719	577	6129											
COL6A5	256076	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	130159376	130159377	+	Missense_Mutation	DNP	CC	CC	AA													tggtcgtgccctactgtggaCcactgaaaatctttttccag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:130159376_130159377CC>AA	ENST00000432398.2	+	35	6688_6689	c.6194_6195CC>AA	c.(6193-6195)aCC>aAA	p.T2065K	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2065K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2065	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTACTGTGGACCACTGAAAATC	0.386																																					p.T2065K		.											.	.	0			c.C6195A						.																																			SO:0001583	missense	256076	exon35			GTGGACCACTGAA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	Exception_encountered	3.37:g.130159376_130159377delinsAA	ENSP00000390895:p.Thr2065Lys	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	146	30	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	DNP	ENST00000432398.2	37																																																																																				.		0.386	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		AA	130159377	CC	AA	130159376	3	1	31	1	0	0	0	0	1	0	0	0	3709	507	18	3	6328	3	COL6A5	3	130159376	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	463665	130159376	67863054	578	6130											
PRR23A	56945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	138724701	138724701	+	De_novo_Start_OutOfFrame	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagacttcctgctcaAcgacgacgtcctccctgaga	9	15	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:138724701A>T	ENST00000495075.1	+	0	54				PRR23A_ENST00000383163.2_Missense_Mutation_p.V137D			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22							mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTCCTGCTCAACGACGACGTC	0.632																																					p.V137D		.											.	.	0			c.T410A						.						51	48	49					3																	138724701		692	1591	2283			729627	exon1			TGCTCAACGACGA	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.-379A>T	3.37:g.138724701A>T		Somatic	195	0		WXS	Illumina GAIIx	Phase_I	303	153	NM_001134659	0	0	0	0	0	Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395784	0.42512	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.92	1.72	0.24424	.	2.364290	0.02624	N	0.103531	T	0.58119	0.2100	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.63192	0.912	T	0.24512	-1.0158	9	0.66056	D	0.02	.	6.1327	0.20215	0.7368:0.2632:0.0:0.0	.	137	A6NEV1	PR23A_HUMAN	D	137	.	ENSP00000372649:V137D	V	-	2	0	PRR23A	140207391	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.068000	0.14531	0.515000	0.28320	0.402000	0.26972	GTT	.		0.632	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		T	138724701	A	T	138724701	1	4	31	1	0	1	0	0	0	0	0	0	12636	43	2	5		5	PRR23A	3	138724701	De_novo_Start_OutOfFrame	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	8565325	138724701	59297729	579	6131											
PRR23C	389152	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	138762923	138762923	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacatacttctagcggaGgggtagagcccagcggctga	14	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:138762923G>C	ENST00000413199.1	-	1	811	c.540C>G	c.(538-540)ccC>ccG	p.P180P	PRR23C_ENST00000502927.2_Silent_p.P180P|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	180										breast(2)|lung(7)|skin(2)	11						TTCTAGCGGAGGGGTAGAGCC	0.667																																					p.P180P		.											.	PRR23C-23	0			c.C540G						.						22	28	26					3																	138762923		692	1591	2283	SO:0001819	synonymous_variant	389152	exon1			AGCGGAGGGGTAG		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.540C>G	3.37:g.138762923G>C		Somatic	144	1		WXS	Illumina GAIIx	Phase_I	198	115	NM_001134657	0	0	0	0	0		Silent	SNP	ENST00000413199.1	37	CCDS46924.1																																																																																			.		0.667	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		C	138762923	G	C	138762923	2	2	31	1	0	0	0	0	0	0	0	1	12638	987	35	3		3	PRR23C	3	138762923	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	38222	138762923	59259507	580	6132											
CLSTN2	64084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	140167391	140167391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggattgagtaccagcctgGctccgggagcatgcccctgt	14	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140167391G>T	ENST00000458420.3	+	6	1008	c.818G>T	c.(817-819)gGc>gTc	p.G273V	RP11-68L1.2_ENST00000502712.1_RNA|RP11-68L1.2_ENST00000509191.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	273	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCAGCCTGGCTCCGGGAGC	0.502										HNSCC(16;0.037)																											p.G273V	GBM(45;858 913 3709 36904 37282)	.											.	CLSTN2-157	0			c.G818T						.						108	102	104					3																	140167391		2203	4300	6503	SO:0001583	missense	64084	exon6			AGCCTGGCTCCGG	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.818G>T	3.37:g.140167391G>T	ENSP00000402460:p.Gly273Val	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	196	37	NM_022131	0	0	0	0	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625216	0.87560	.	.	ENSG00000158258	ENST00000458420	T	0.46451	0.87	5.2	5.2	0.72013	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77059	-0.2728	10	0.87932	D	0	-15.5618	16.2424	0.82423	0.0:0.0:1.0:0.0	.	273	Q9H4D0	CSTN2_HUMAN	V	273	ENSP00000402460:G273V	ENSP00000402460:G273V	G	+	2	0	CLSTN2	141650081	1.000000	0.71417	0.484000	0.27391	0.926000	0.56050	9.813000	0.99286	2.425000	0.82216	0.561000	0.74099	GGC	.		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		T	140167391	G	T	140167391	3	4	31	1	0	0	0	0	1	0	0	0	3569	1203	42	3	840	3	CLSTN2	3	140167391	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1404468	140167391	57855039	581	6133											
CLSTN2	64084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	140265408	140265408	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctttcatggaagcctggCcagtctcaccatccgccctg	9	15	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140265408C>A	ENST00000458420.3	+	10	1749	c.1559C>A	c.(1558-1560)gCc>gAc	p.A520D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	520					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGCCTGGCCAGTCTCACC	0.502										HNSCC(16;0.037)																											p.A520D	GBM(45;858 913 3709 36904 37282)	.											.	CLSTN2-157	0			c.C1559A						.						63	61	61					3																	140265408		2203	4300	6503	SO:0001583	missense	64084	exon10			GCCTGGCCAGTCT	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.1559C>A	3.37:g.140265408C>A	ENSP00000402460:p.Ala520Asp	Somatic	240	1		WXS	Illumina GAIIx	Phase_I	300	172	NM_022131	0	0	0	0	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583994	0.86748	.	.	ENSG00000158258	ENST00000458420	T	0.62364	0.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.052400	0.85682	D	0.000000	T	0.76442	0.3988	M	0.71206	2.165	0.51233	D	0.999919	D	0.64830	0.994	D	0.63793	0.918	T	0.76828	-0.2815	9	.	.	.	-32.3936	16.3887	0.83524	0.0:1.0:0.0:0.0	.	520	Q9H4D0	CSTN2_HUMAN	D	520	ENSP00000402460:A520D	.	A	+	2	0	CLSTN2	141748098	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.487000	0.81328	2.455000	0.83008	0.455000	0.32223	GCC	.		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140265408	C	A	140265408	3	1	31	1	0	0	0	0	1	0	0	0	3569	739	26	3	1597	3	CLSTN2	3	140265408	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	98017	140265408	57757022	582	6134											
SPSB4	92369	hgsc.bcm.edu	37	chr3	140785132	140785132	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccccgaggaccgctcGctcaacgtcttcgtcaagga	11	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140785132G>T	ENST00000310546.2	+	2	930	c.186G>T	c.(184-186)tcG>tcT	p.S62S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	62	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGACCGCTCGCTCAACGTCT	0.736																																					p.S62S		.											.	SPSB4-226	0			c.G186T						.																																			SO:0001819	synonymous_variant	92369	exon2			CCGCTCGCTCAAC		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.186G>T	3.37:g.140785132G>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	129	26	NM_080862	0	0	0	0	0		Silent	SNP	ENST00000310546.2	37	CCDS3115.1																																																																																			.		0.736	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		T	140785132	G	T	140785132	2	4	31	1	0	0	0	0	0	0	0	1	15162	1074	38	2		2	SPSB4	3	140785132	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	519724	140785132	57237298	583	6135											
GK5	256356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	141904794	141904794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactattggtataggcaCaccaaatatctcttcatcca	6	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:141904794C>A	ENST00000392993.2	-	9	944	c.793G>T	c.(793-795)Gtg>Ttg	p.V265L	GK5_ENST00000544571.1_Missense_Mutation_p.V265L	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	265					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GGTATAGGCACACCAAATATC	0.308																																					p.V265L		.											.	GK5-90	0			c.G793T						.						87	92	90					3																	141904794		2203	4298	6501	SO:0001583	missense	256356	exon9			TAGGCACACCAAA	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.793G>T	3.37:g.141904794C>A	ENSP00000418001:p.Val265Leu	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	127	12	NM_001039547	0	0	0	0	0	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482441	0.63962	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.58358	0.84;0.34	4.52	4.52	0.55395	Carbohydrate kinase, FGGY, N-terminal (1);	0.190362	0.44688	D	0.000421	T	0.43722	0.1260	L	0.38692	1.165	0.43994	D	0.996694	B	0.28258	0.205	B	0.32022	0.139	T	0.29336	-1.0015	10	0.11182	T	0.66	-17.2966	16.4049	0.83656	0.0:1.0:0.0:0.0	.	265	Q6ZS86	GLPK5_HUMAN	L	265	ENSP00000418001:V265L;ENSP00000440860:V265L	ENSP00000418001:V265L	V	-	1	0	GK5	143387484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.208000	0.71279	0.563000	0.77884	GTG	.		0.308	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		A	141904794	C	A	141904794	3	1	31	1	0	0	0	0	1	0	0	0	6448	478	17	3	828	3	GK5	3	141904794	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1119662	141904794	56117636	584	6136											
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142232433	142232433	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actttgaaatcatgcttcatCataatgctacagcaggtgaa	7	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:142232433C>G	ENST00000350721.4	-	26	4672	c.4551G>C	c.(4549-4551)atG>atC	p.M1517I	ATR_ENST00000383101.3_Missense_Mutation_p.M1453I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1517					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						CATGCTTCATCATAATGCTAC	0.363								Other conserved DNA damage response genes																													p.M1517I		.											.	ATR-1139	0			c.G4551C						.						117	105	109					3																	142232433		2203	4300	6503	SO:0001583	missense	545	exon26			CTTCATCATAATG	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.4551G>C	3.37:g.142232433C>G	ENSP00000343741:p.Met1517Ile	Somatic	395	0		WXS	Illumina GAIIx	Phase_I	469	88	NM_001184	0	0	0	0	0	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873756	0.17322	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.14022	2.54;2.54	5.19	5.19	0.71726	.	0.045586	0.85682	D	0.000000	T	0.08492	0.0211	N	0.12746	0.255	0.52501	D	0.999958	B	0.12630	0.006	B	0.08055	0.003	T	0.14172	-1.0482	10	0.06891	T	0.86	-18.5795	18.6937	0.91593	0.0:1.0:0.0:0.0	.	1517	Q13535	ATR_HUMAN	I	1517;1453	ENSP00000343741:M1517I;ENSP00000372581:M1453I	ENSP00000343741:M1517I	M	-	3	0	ATR	143715123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.302000	0.59092	2.415000	0.81967	0.491000	0.48974	ATG	.		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		G	142232433	C	G	142232433	3	3	31	1	0	0	0	0	1	0	0	0	1205	826	29	3	3471	3	ATR	3	142232433	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	327639	142232433	55789997	585	6137											
TRPC1	7220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142523389	142523389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattccctcaccaaagactAtctgctatatgattagtagc	5	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:142523389A>G	ENST00000476941.1	+	12	2557	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	TRPC1_ENST00000273482.6_Missense_Mutation_p.I657V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	691					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACCAAAGACTATCTGCTATAT	0.383																																					p.I691V		.											.	TRPC1-92	0			c.A2071G						.						102	97	99					3																	142523389		2203	4300	6503	SO:0001583	missense	7220	exon12			AAGACTATCTGCT	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2071A>G	3.37:g.142523389A>G	ENSP00000419313:p.Ile691Val	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	263	44	NM_001251845	0	0	0	0	0	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.505981	0.26949	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.84370	-1.84;-1.84	4.83	3.67	0.42095	.	0.051677	0.85682	D	0.000000	T	0.68696	0.3029	N	0.10945	0.07	0.53005	D	0.999961	B;B	0.09022	0.0;0.002	B;B	0.15052	0.001;0.012	T	0.57808	-0.7747	10	0.13470	T	0.59	-23.9068	10.4928	0.44760	0.9226:0.0:0.0774:0.0	.	691;657	P48995;P48995-2	TRPC1_HUMAN;.	V	691;657	ENSP00000419313:I691V;ENSP00000273482:I657V	ENSP00000273482:I657V	I	+	1	0	TRPC1	144006079	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.640000	0.61368	0.796000	0.33947	0.528000	0.53228	ATC	.		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		G	142523389	A	G	142523389	3	3	31	1	0	0	0	0	1	0	0	0	16626	449	16	4	2011	4	TRPC1	3	142523389	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	290956	142523389	55499041	586	6138											
CPA3	1359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	148586735	148586735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaggtgccacccaccacGtagctgctaatatgatggtg	10	12	0	1	rs138685459		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:148586735G>T	ENST00000296046.3	+	3	230	c.178G>T	c.(178-180)Gta>Tta	p.V60L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	60					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CACCCACCACGTAGCTGCTAA	0.423																																					p.V60L		.											.	CPA3-154	0			c.G178T						.						138	117	124					3																	148586735		2203	4300	6503	SO:0001583	missense	1359	exon3			CACCACGTAGCTG		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.178G>T	3.37:g.148586735G>T	ENSP00000296046:p.Val60Leu	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	105	19	NM_001870	0	0	0	0	0	Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	7.765	0.706266	0.15239	.	.	ENSG00000163751	ENST00000296046	T	0.34472	1.36	5.45	-1.06	0.10002	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.308595	0.30060	N	0.010507	T	0.31702	0.0805	L	0.52011	1.625	0.09310	N	0.999998	B	0.24823	0.112	B	0.30782	0.12	T	0.37549	-0.9701	10	0.72032	D	0.01	.	10.9061	0.47081	0.7085:0.0:0.2915:0.0	.	60	P15088	CBPA3_HUMAN	L	60	ENSP00000296046:V60L	ENSP00000296046:V60L	V	+	1	0	CPA3	150069425	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	-0.140000	0.10342	-0.283000	0.09115	-0.136000	0.14681	GTA	G|1.000;A|0.000		0.423	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		T	148586735	G	T	148586735	3	4	31	1	0	0	0	0	1	0	0	0	3798	1145	40	2	188	2	CPA3	3	148586735	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6063346	148586735	49435695	587	6139											
CP	1356	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	148923984	148923984	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgttaagttttctttagtGaagatgtctataccagaggg	11	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:148923984G>A	ENST00000264613.6	-	6	1441	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	393	F5/8 type A 2.|Plastocyanin-like 3.				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)	TTTCTTTAGTGAAGATGTCTA	0.393																																					p.F393F		.											.	CP-515	0			c.C1179T						.						113	115	114					3																	148923984		2203	4300	6503	SO:0001819	synonymous_variant	1356	exon6			TTTAGTGAAGATG	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.1179C>T	3.37:g.148923984G>A		Somatic	87	1		WXS	Illumina GAIIx	Phase_I	92	13	NM_000096	0	0	0	0	0	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																			.		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		A	148923984	G	A	148923984	2	1	31	1	0	0	0	0	0	0	0	1	3794	1281	45	3		3	CP	3	148923984	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	337249	148923984	49098446	588	6140											
TM4SF1	4071	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	149095253	149095254	+	Missense_Mutation	DNP	GC	GC	TT													ttccccattgggaaagtaaaGcaaaatattagccgcgatgc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:149095253_149095254GC>TT	ENST00000305366.3	-	1	398_399	c.81_82GC>AA	c.(79-84)ttGCtt>ttAAtt	p.L28I	TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1_ENST00000472441.1_5'Flank	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	28						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGAAAGTAAAGCAAAATATTAG	0.525																																					p.L28I		.											.	TM4SF1-90	0			c.G81A						.																																			SO:0001583	missense	4071	exon1			GTAAAGCAAAATA	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.81_82delinsTT	3.37:g.149095253_149095254delinsTT	ENSP00000304277:p.Leu28Ile	Somatic	276	0		WXS	Illumina GAIIx	Phase_I	241	30	NM_014220	0	0	0	0	0	Q6IB51	Missense_Mutation	DNP	ENST00000305366.3	37	CCDS3143.1																																																																																			.		0.525	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			TT	149095254	GC	TT	149095253	3	4	31	1	0	0	0	0	1	0	0	0	16013	971	34	3	546	3	TM4SF1	3	149095253	Missense_Mutation	DNP	GC	TCGA-OR-A5KB-01A-11D-A30A-10	171269	149095253	48927177	589	6141											
P2RY12	64805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	151055969	151055969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttacctacacccctcgttCttacgtatgaccggtacagt	6	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:151055969C>G	ENST00000302632.3	-	3	964	c.665G>C	c.(664-666)aGa>aCa	p.R222T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	222					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	ACCCCTCGTTCTTACGTATGA	0.333																																					p.R222T		.											.	P2RY12-501	0			c.G665C						.						73	75	74					3																	151055969		2203	4300	6503	SO:0001583	missense	64805	exon3			CTCGTTCTTACGT	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.665G>C	3.37:g.151055969C>G	ENSP00000307259:p.Arg222Thr	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	121	19	NM_022788	0	0	0	0	0	D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391378	0.62066	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.20332	2.08	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.146353	0.64402	D	0.000016	T	0.32164	0.0820	M	0.64170	1.965	0.48901	D	0.999729	P	0.45768	0.866	P	0.51453	0.67	T	0.01172	-1.1429	10	0.27082	T	0.32	-22.3255	12.5757	0.56362	0.0:0.9237:0.0:0.0762	.	222	Q9H244	P2Y12_HUMAN	T	222;125	ENSP00000307259:R222T	ENSP00000307259:R222T	R	-	2	0	P2RY12	152538659	1.000000	0.71417	0.496000	0.27539	0.739000	0.42172	5.742000	0.68646	2.613000	0.88420	0.655000	0.94253	AGA	.		0.333	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			G	151055969	C	G	151055969	3	3	31	1	0	0	0	0	1	0	0	0	11388	913	32	3	367	3	P2RY12	3	151055969	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1960716	151055969	46966461	590	6142											
IGSF10	285313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	151166386	151166386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggcctcatctctgctctTggtaaagtgatttgagcatc	9	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:151166386T>A	ENST00000282466.3	-	4	1382	c.1383A>T	c.(1381-1383)ccA>ccT	p.P461P		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	461	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCTGCTCTTGGTAAAGTGA	0.438																																					p.P461P		.											.	IGSF10-102	0			c.A1383T						.						199	180	186					3																	151166386		2203	4300	6503	SO:0001819	synonymous_variant	285313	exon4			TGCTCTTGGTAAA	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.1383A>T	3.37:g.151166386T>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	85	49	NM_178822	0	0	0	0	0	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			.		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151166386	T	A	151166386	2	1	31	1	0	0	0	0	0	0	0	1	7624	1799	63	5		5	IGSF10	3	151166386	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	110417	151166386	46856044	591	6143											
RAP2B	5912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	152880651	152880651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtcggtgctggagatcctgGatacggcgggcaccgagcag	17	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:152880651G>T	ENST00000323534.2	+	1	623	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	57					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGAGATCCTGGATACGGCGGG	0.592																																					p.D57Y		.											.	RAP2B-847	0			c.G169T						.						98	100	99					3																	152880651		2203	4300	6503	SO:0001583	missense	5912	exon1			ATCCTGGATACGG		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.169G>T	3.37:g.152880651G>T	ENSP00000319096:p.Asp57Tyr	Somatic	282	0		WXS	Illumina GAIIx	Phase_I	341	174	NM_002886	0	0	0	0	0	P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693482	0.68386	.	.	ENSG00000181467	ENST00000323534	D	0.93859	-3.3	4.71	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.97980	0.9335	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97675	1.0169	10	0.87932	D	0	.	10.635	0.45560	0.0938:0.0:0.9062:0.0	.	57	P61225	RAP2B_HUMAN	Y	57	ENSP00000319096:D57Y	ENSP00000319096:D57Y	D	+	1	0	RAP2B	154363341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.443000	0.97568	1.197000	0.43143	0.563000	0.77884	GAT	.		0.592	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		T	152880651	G	T	152880651	3	4	31	1	0	0	0	0	1	0	0	0	13086	1174	41	3	171	3	RAP2B	3	152880651	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1714265	152880651	45141779	592	6144											
GPR149	344758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	154146424	154146424	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcaactgcacttttacCatcatgggcagccaaaggac	10	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:154146424C>A	ENST00000389740.2	-	1	1080	c.981G>T	c.(979-981)atG>atT	p.M327I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	327					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)			GCACTTTTACCATCATGGGCA	0.552																																					p.M327I		.											.	GPR149-96	0			c.G981T						.						126	124	125					3																	154146424		1995	4159	6154	SO:0001630	splice_region_variant	344758	exon1			TTTTACCATCATG	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.981+1G>T	3.37:g.154146424C>A		Somatic	221	1		WXS	Illumina GAIIx	Phase_I	341	191	NM_001038705	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943152	0.92526	.	.	ENSG00000174948	ENST00000389740	T	0.35973	1.28	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.077600	0.85682	D	0.000000	T	0.58323	0.2114	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.59091	-0.7519	9	.	.	.	-13.6879	18.039	0.89313	0.0:1.0:0.0:0.0	.	327	Q86SP6	GP149_HUMAN	I	327	ENSP00000374390:M327I	.	M	-	3	0	GPR149	155629118	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.060000	0.76692	2.268000	0.75426	0.655000	0.94253	ATG	.		0.552	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	Missense_Mutation	A	154146424	C	A	154146424	5	1	31	1	0	0	0	0	0	0	1	0	6680	608	21	3	1230	3	GPR149	3	154146424	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1265773	154146424	43876006	593	6145											
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	154884770	154884770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactatgggggcatcggcatGgtcataggacacgaaatcac	12	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:154884770G>T	ENST00000460393.1	+	18	1860	c.1740G>T	c.(1738-1740)atG>atT	p.M580I	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.M580I|MME_ENST00000462745.1_Missense_Mutation_p.M580I|MME_ENST00000360490.2_Missense_Mutation_p.M580I|MME_ENST00000492661.1_Missense_Mutation_p.M580I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	580					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)	GCATCGGCATGGTCATAGGAC	0.468																																					p.M580I		.											.	MME-516	0			c.G1740T						.						152	139	143					3																	154884770		2203	4300	6503	SO:0001583	missense	4311	exon18			CGGCATGGTCATA		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.1740G>T	3.37:g.154884770G>T	ENSP00000418525:p.Met580Ile	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	116	65	NM_007287	0	0	0	0	0	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181307	0.94846	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.041005	0.85682	D	0.000000	D	0.89291	0.6673	M	0.69823	2.125	0.80722	D	1	D	0.61697	0.99	D	0.65443	0.935	D	0.88959	0.3392	10	0.62326	D	0.03	-29.8646	20.2789	0.98501	0.0:0.0:1.0:0.0	.	580	P08473	NEP_HUMAN	I	580	ENSP00000420389:M580I;ENSP00000418525:M580I;ENSP00000419653:M580I;ENSP00000417079:M580I;ENSP00000353679:M580I	ENSP00000353679:M580I	M	+	3	0	MME	156367464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	ATG	.		0.468	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		T	154884770	G	T	154884770	3	4	31	1	0	0	0	0	1	0	0	0	9683	1348	47	3	1806	3	MME	3	154884770	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	738346	154884770	43137660	594	6146											
TIPARP	25976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	156413771	156413771	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagagagataaaaaggAgacccctcttccgctcctgt	10	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:156413771A>T	ENST00000461166.1	+	4	1792	c.1204A>T	c.(1204-1206)Aga>Tga	p.R402*	TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R402*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R402*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R402*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	402	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATAAAAAGGAGACCCCTCTT	0.393																																					p.R402X	Ovarian(171;276 1987 3319 6837 11197)	.											.	TIPARP-523	0			c.A1204T						.						111	115	113					3																	156413771		2203	4300	6503	SO:0001587	stop_gained	25976	exon4			AAAAGGAGACCCC	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1204A>T	3.37:g.156413771A>T	ENSP00000420612:p.Arg402*	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	79	22	NM_015508	0	0	0	0	0	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	44|44	10.643449|10.643449	0.99443|0.99443	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37544|.	0.1007|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35574|.	-0.9783|.	3|.	.|0.02654	.|T	.|1	.|.	15.2206|15.2206	0.73308|0.73308	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	104|402	.|.	.|ENSP00000295924:R402X	E|R	+|+	2|1	0|2	TIPARP|TIPARP	157896465|157896465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.765000|2.765000	0.47621|0.47621	2.085000|2.085000	0.62840|0.62840	0.377000|0.377000	0.23210|0.23210	GAG|AGA	.		0.393	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		T	156413771	A	T	156413771	4	4	31	1	0	0	0	0	0	1	0	0	15971	296	11	5	1214	5	TIPARP	3	156413771	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1529001	156413771	41608659	595	6147											
SHOX2	6474	hgsc.bcm.edu	37	chr3	157823581	157823582	+	In_Frame_Ins	INS	-	-	CACCTCCTC													gcctgctcctcctcctcctaINScacctcctccgcctcctccg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:157823581_157823582insCACCTCCTC	ENST00000425436.3	-	1	257_258	c.232_233insGAGGAGGTG	c.(232-234)gta>gGAGGAGGTGta	p.77_78insGGG	SHOX2_ENST00000441443.2_5'UTR|RSRC1_ENST00000480820.1_5'Flank|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_In_Frame_Ins_p.77_78insGGG|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000483851.2_In_Frame_Ins_p.77_78insGGG	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	77	Poly-Gly.				cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			tcctcctcctacacctcctccg	0.787																																					p.V78delinsGGGV		.											.	SHOX2-90	0			c.233_234insGAGGAGGTG						.		,,	21,2419		6,9,1205					,,	-1	0.6			7	162,5396		41,80,2658	no	coding,coding,coding	SHOX2	NM_006884.3,NM_003030.4,NM_001163678.1	,,	47,89,3863	A1A1,A1R,RR		2.9147,0.8607,2.2881	,,	,,		183,7815				SO:0001652	inframe_insertion	6474	exon1			CCTCCTACACCTC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.224_232dupGAGGAGGTG	3.37:g.157823582_157823590dupCACCTCCTC	ENSP00000398704:p.Gly80_Gly81dup	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	84	44	NM_001163678	0	0	0	0	0	O60465|O60467|O60903	In_Frame_Ins	INS	ENST00000425436.3	37	CCDS43164.1																																																																																			.		0.787	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			CACCTCCTC	157823582	-	CACCTCCTC	157823581	7	5	31	1	0	1	1	0	0	0	0	0	14334	391	14	0	858	0	SHOX2	3	157823581	In_Frame_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	1409810	157823581	40198849	596	6148											
RARRES1	5918	hgsc.bcm.edu	37	chr3	158449965	158449965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcggccagcactcgTagcgcgctgggcgagccgga	15	15	0	0	rs6441223	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:158449965T>C	ENST00000237696.5	-	1	520	c.240A>G	c.(238-240)ctA>ctG	p.L80L	RP11-379F4.4_ENST00000495318.1_RNA|RARRES1_ENST00000479756.1_Silent_p.L80L|RP11-379F4.4_ENST00000468242.1_RNA|RARRES1_ENST00000498640.1_5'UTR|RP11-379F4.4_ENST00000465477.1_RNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	80					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	CCAGCACTCGTAGCGCGCTGG	0.751													C|||	2145	0.428315	0.6165	0.3271	5008	,	,		7828	0.1736		0.493	False		,,,				2504	0.4417				p.L80L		.											.	RARRES1-514	0			c.A240G						.						1	1	1					3																	158449965		703	1608	2311	SO:0001819	synonymous_variant	5918	exon1			CACTCGTAGCGCG	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"latexin-like"	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.240A>G	3.37:g.158449965T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_206963	0	0	0	0	0	Q8N1D7	Silent	SNP	ENST00000237696.5	37	CCDS3184.1																																																																																			T|0.584;C|0.416		0.751	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			C	158449965	T	C	158449965	2	2	31	1	0	0	0	0	0	0	0	1	13100	1625	57	4		4	RARRES1	3	158449965	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	626384	158449965	39572465	597	6149											
OTOL1	131149	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	161214847	161214847	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctttggcactgccactctCtctccctttgaaaacttcac	5	15	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:161214847C>T	ENST00000327928.4	+	1	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	84						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTGCCACTCTCTCTCCCTTTG	0.463																																					p.L84L		.											.	.	0			c.C252T						.						162	159	160					3																	161214847		1870	4105	5975	SO:0001819	synonymous_variant	131149	exon1			CACTCTCTCTCCC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.252C>T	3.37:g.161214847C>T		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	179	17	NM_001080440	0	0	0	0	0		Silent	SNP	ENST00000327928.4	37	CCDS46948.1																																																																																			.		0.463	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		T	161214847	C	T	161214847	2	4	31	1	0	0	0	0	0	0	0	1	11343	900	32	3		3	OTOL1	3	161214847	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2764882	161214847	36807583	598	6150											
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	164786984	164786984	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgtgcacaaattccCtgataaaatatttttaaagg	5	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:164786984C>A	ENST00000264382.3	-	4	318		c.e4-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						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)	CACAAATTCCCTGATAAAATA	0.343										HNSCC(35;0.089)																											.		.											.	SI-104	0			c.256-1G>T						.						31	34	33					3																	164786984		2203	4299	6502	SO:0001630	splice_region_variant	6476	exon5			AATTCCCTGATAA	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.256-1G>T	3.37:g.164786984C>A		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	112	17	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540097	0.45176	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166269678	1.000000	0.71417	0.558000	0.28319	0.222000	0.24845	6.288000	0.72679	2.802000	0.96397	0.655000	0.94253	.	.		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	A	164786984	C	A	164786984	5	1	31	1	0	0	0	0	0	0	1	0	14342	695	24	3	5408	3	SI	3	164786984	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3572137	164786984	33235446	599	6151											
BCHE	590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	165547305	165547305	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaaatcagcacttacCcatattttgcaaaatttgcc	4	10	1	1	rs532499978	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:165547305C>A	ENST00000264381.3	-	2	1683	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	506					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)	CAGCACTTACCCATATTTTGC	0.388													C|||	3	0.000599042	0	0	5008	,	,		16299	0		0	False		,,,				2504	0.0031				p.G506V		.											.	BCHE-94	0			c.G1517T						.						78	83	81					3																	165547305		2203	4300	6503	SO:0001630	splice_region_variant	590	exon2			ACTTACCCATATT	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.1517+1G>T	3.37:g.165547305C>A		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	82	13	NM_000055	0	0	0	0	0	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384108	0.61845	.	.	ENSG00000114200	ENST00000264381	T	0.75589	-0.95	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95849	0.8873	9	.	.	.	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	506	P06276	CHLE_HUMAN	V	506	ENSP00000264381:G506V	.	G	-	2	0	BCHE	167029999	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.245000	0.78237	2.605000	0.88082	0.591000	0.81541	GGG	.		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		Missense_Mutation	A	165547305	C	A	165547305	5	1	31	1	0	0	0	0	0	0	1	0	1359	637	22	3	303	3	BCHE	3	165547305	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	760321	165547305	32475125	600	6152											
SERPINI2	5276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	167184843	167184843	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaatgggaaactttacCatctgtttttctttctaccc	5	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:167184843C>G	ENST00000476257.1	-	4	776	c.478G>C	c.(478-480)Gga>Cga	p.G160R	SERPINI2_ENST00000471111.1_Splice_Site_p.G160R|SERPINI2_ENST00000461846.1_Splice_Site_p.G160R|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000264677.4_Splice_Site_p.G160R			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	160					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAAACTTTACCATCTGTTTTT	0.323																																					p.G170R		.											.	SERPINI2-228	0			c.G508C						.						64	67	66					3																	167184843		2202	4300	6502	SO:0001630	splice_region_variant	5276	exon4			CTTTACCATCTGT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.478+1G>C	3.37:g.167184843C>G		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_001012303	0	0	0	0	0		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148852	0.78001	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	T;T;T;T;T;D	0.86694	-1.36;-1.36;-1.36;-1.36;-1.36;-2.16	5.7	5.7	0.88788	Serpin domain (3);	0.165226	0.53938	D	0.000054	D	0.94185	0.8134	M	0.82433	2.59	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93699	0.7014	9	.	.	.	.	19.8533	0.96747	0.0:1.0:0.0:0.0	.	160;160	B4DDY9;O75830	.;SPI2_HUMAN	R	160;160;160;160;160;145	ENSP00000420621:G160R;ENSP00000417692:G160R;ENSP00000264677:G160R;ENSP00000419407:G160R;ENSP00000417752:G160R;ENSP00000419255:G145R	.	G	-	1	0	SERPINI2	168667537	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.181000	0.58303	2.692000	0.91855	0.655000	0.94253	GGA	.		0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation	G	167184843	C	G	167184843	5	3	31	1	0	0	0	0	0	0	1	0	14164	608	21	3	767	3	SERPINI2	3	167184843	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1637538	167184843	30837587	601	6153											
WDR49	151790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	167218046	167218046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtttattcacttcagGcagctcttccagggctccaa	9	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:167218046G>A	ENST00000308378.3	-	14	2175	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.P449S|WDR49_ENST00000453925.2_Missense_Mutation_p.P589S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	624										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCACTTCAGGCAGCTCTTCC	0.438																																					p.P624S		.											.	WDR49-155	0			c.C1870T						.						136	146	143					3																	167218046		2203	4300	6503	SO:0001583	missense	151790	exon14			CTTCAGGCAGCTC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1870C>T	3.37:g.167218046G>A	ENSP00000311343:p.Pro624Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	50	29	NM_178824	0	0	0	0	0	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934338	0.02340	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.51325	0.71;2.0;1.02	5.29	3.41	0.39046	.	0.693905	0.12865	N	0.432747	T	0.36082	0.0954	L	0.57536	1.79	0.09310	N	1	B;B	0.34103	0.437;0.329	B;B	0.32864	0.154;0.095	T	0.31392	-0.9945	10	0.06757	T	0.87	.	6.9456	0.24516	0.0:0.1735:0.5469:0.2796	.	589;624	E7EQK3;Q8IV35	.;WDR49_HUMAN	S	624;449;589	ENSP00000311343:P624S;ENSP00000420508:P449S;ENSP00000410863:P589S	ENSP00000311343:P624S	P	-	1	0	WDR49	168700740	0.167000	0.22975	0.545000	0.28153	0.001000	0.01503	1.810000	0.38932	2.462000	0.83206	0.591000	0.81541	CCT	.		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		A	167218046	G	A	167218046	3	1	31	1	0	0	0	0	1	0	0	0	17351	1203	42	3	231	3	WDR49	3	167218046	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	33203	167218046	30804384	602	6154											
SAMD7	344658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	169644583	169644583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acactttgaggagagctgggGgcagagatgtcgtcgactca	15	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:169644583G>T	ENST00000428432.2	+	6	922	c.533G>T	c.(532-534)gGg>gTg	p.G178V	SAMD7_ENST00000335556.3_Missense_Mutation_p.G178V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	178										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAGAGCTGGGGGCAGAGATGT	0.498																																					p.G178V		.											.	SAMD7-91	0			c.G533T						.						62	66	65					3																	169644583		2203	4300	6503	SO:0001583	missense	344658	exon6			GCTGGGGGCAGAG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.533G>T	3.37:g.169644583G>T	ENSP00000391299:p.Gly178Val	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	215	40	NM_182610	0	0	0	0	0		Missense_Mutation	SNP	ENST00000428432.2	37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651790	0.47362	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43688	0.94;0.94	6.16	3.32	0.38043	.	0.252301	0.45126	D	0.000393	T	0.31327	0.0793	L	0.57536	1.79	0.20196	N	0.999928	P	0.50272	0.933	B	0.39706	0.307	T	0.21793	-1.0235	10	0.30854	T	0.27	-4.7219	3.7173	0.08442	0.2689:0.0:0.4494:0.2816	.	178	Q7Z3H4	SAMD7_HUMAN	V	178	ENSP00000391299:G178V;ENSP00000334668:G178V	ENSP00000334668:G178V	G	+	2	0	SAMD7	171127277	1.000000	0.71417	0.887000	0.34795	0.694000	0.40290	3.133000	0.50531	0.865000	0.35603	0.650000	0.86243	GGG	.		0.498	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		T	169644583	G	T	169644583	3	4	31	1	0	0	0	0	1	0	0	0	13869	1232	43	3	547	3	SAMD7	3	169644583	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2426537	169644583	28377847	603	6155											
TNIK	23043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	170928929	170928929	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttggtcatccatgcctggTgggttctttttgataaaagc	11	7	2	1	rs373014252	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:170928929T>A	ENST00000436636.2	-	4	626	c.282A>T	c.(280-282)ccA>ccT	p.P94P	TNIK_ENST00000475336.1_Silent_p.P94P|TNIK_ENST00000369326.5_Silent_p.P94P|TNIK_ENST00000357327.5_Silent_p.P94P|TNIK_ENST00000284483.8_Silent_p.P94P|TNIK_ENST00000470834.1_Silent_p.P94P|TNIK_ENST00000341852.6_Silent_p.P94P|TNIK_ENST00000538048.1_Silent_p.P94P|TNIK_ENST00000460047.1_Silent_p.P94P|TNIK_ENST00000488470.1_Silent_p.P94P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	94	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)			CCATGCCTGGTGGGTTCTTTT	0.353																																					p.P94P		.											.	TNIK-550	0			c.A282T						.						118	114	115					3																	170928929		1827	4096	5923	SO:0001819	synonymous_variant	23043	exon4			GCCTGGTGGGTTC	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.282A>T	3.37:g.170928929T>A		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	60	26	NM_001161562	0	0	0	0	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																			.		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170928929	T	A	170928929	2	1	31	1	0	0	0	0	0	0	0	1	16360	1683	59	5		5	TNIK	3	170928929	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1284346	170928929	27093501	604	6156											
KCNMB2	10242	hgsc.bcm.edu;bcgsc.ca	37	chr3	178543454	178543454	+	Frame_Shift_Del	DEL	C	C	-													gcactgaaggcaggagaggaCcgagctattctcctgggact							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:178543454delC	ENST00000432997.1	+	3	487	c.135delC	c.(133-135)gacfs	p.D45fs	KCNMB2_ENST00000358316.3_Frame_Shift_Del_p.D45fs|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Frame_Shift_Del_p.D45fs|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Frame_Shift_Del_p.D45fs|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	56					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)	CAGGAGAGGACCGAGCTATTC	0.458																																					p.D45fs		.											.	KCNMB2-91	0			c.135delC						.						210	197	201					3																	178543454		2203	4300	6503	SO:0001589	frameshift_variant	10242	exon4			AGAGGACCGAGCT	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.135delC	3.37:g.178543454delC	ENSP00000407592:p.Asp45fs	Somatic	193	1		WXS	Illumina GAIIx	Phase_I	196	93	NM_005832	0	0	0	0	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Frame_Shift_Del	DEL	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		-	178543454	C	-	178543454	7	5	31	1	0	1	0	1	0	0	0	0	8102	506	18	0	141	0	KCNMB2	3	178543454	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	7614525	178543454	19478976	605	6157											
MFN1	55669	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	179076752	179076752	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatggagataaagcctatCttatgacagaaggatcagat	10	6	2	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:179076752C>T	ENST00000471841.1	+	4	499	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	MFN1_ENST00000280653.7_Missense_Mutation_p.L125F|MFN1_ENST00000263969.5_Missense_Mutation_p.L125F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	125	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)			TAAAGCCTATCTTATGACAGA	0.358																																					p.L125F		.											.	MFN1-155	0			c.C373T						.						138	129	132					3																	179076752		2203	4300	6503	SO:0001583	missense	55669	exon4			GCCTATCTTATGA	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.373C>T	3.37:g.179076752C>T	ENSP00000420617:p.Leu125Phe	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	60	33	NM_033540	0	0	0	0	0	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497583	0.64186	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.86	4.99	0.66335	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98251	1.0493	10	0.52906	T	0.07	-17.0886	15.2409	0.73468	0.0:0.9326:0.0:0.0674	.	153;125	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	F	125	ENSP00000420617:L125F;ENSP00000280653:L125F;ENSP00000419134:L125F;ENSP00000263969:L125F	ENSP00000263969:L125F	L	+	1	0	MFN1	180559446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.578000	0.60929	1.617000	0.50277	0.650000	0.86243	CTT	.		0.358	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		T	179076752	C	T	179076752	3	4	31	1	0	0	0	0	1	0	0	0	9561	913	32	3	383	3	MFN1	3	179076752	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	533298	179076752	18945678	606	6158											
NDUFB5	4711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	179332777	179332777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctcctgttcgacacagtgGagaccatgggaaaagactat	11	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:179332777G>T	ENST00000259037.3	+	2	257	c.143G>T	c.(142-144)gGa>gTa	p.G48V	NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000493866.1_Intron|snoU13_ENST00000459278.1_RNA	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	48					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CGACACAGTGGAGACCATGGG	0.323																																					p.G48V		.											.	NDUFB5-91	0			c.G143T						.						99	98	98					3																	179332777		2203	4300	6503	SO:0001583	missense	4711	exon2			ACAGTGGAGACCA	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.143G>T	3.37:g.179332777G>T	ENSP00000259037:p.Gly48Val	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	46	11	NM_002492	0	0	0	0	0	Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289178|3.289178	0.59976|0.59976	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037	.|T	.|0.53423	.|0.62	4.71|4.71	2.79|2.79	0.32731|0.32731	.|.	.|0.166857	.|0.52532	.|D	.|0.000074	.|T	.|0.69708	.|0.3141	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.66084	.|0.941	.|T	.|0.76465	.|-0.2949	.|10	.|0.72032	.|D	.|0.01	-15.2316|-15.2316	15.6402|15.6402	0.76993|0.76993	0.0:0.1674:0.8325:0.0|0.0:0.1674:0.8325:0.0	.|.	.|48	.|O43674	.|NDUB5_HUMAN	X|V	45|48	.|ENSP00000259037:G48V	.|ENSP00000259037:G48V	E|G	+|+	1|2	0|0	NDUFB5|NDUFB5	180815471|180815471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	2.500000|2.500000	0.45381|0.45381	0.594000|0.594000	0.29761|0.29761	0.551000|0.551000	0.68910|0.68910	GAG|GGA	.		0.323	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		T	179332777	G	T	179332777	3	4	31	1	0	0	0	0	1	0	0	0	10323	1174	41	3	149	3	NDUFB5	3	179332777	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	256025	179332777	18689653	607	6159											
CCDC39	339829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	180366051	180366051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaacgagttccttcaatttCtgataaaacagctttttctt	6	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:180366051C>T	ENST00000442201.2	-	10	1383	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E506K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	422					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCTTCAATTTCTGATAAAACA	0.378																																					p.E422K		.											.	CCDC39-72	0			c.G1264A						.						142	130	134					3																	180366051		1833	4082	5915	SO:0001583	missense	339829	exon10			CAATTTCTGATAA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1264G>A	3.37:g.180366051C>T	ENSP00000405708:p.Glu422Lys	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	68	13	NM_181426	0	0	0	0	0	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955070	0.92726	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.79940	-1.32;-1.32	5.37	5.37	0.77165	.	0.176223	0.48767	D	0.000164	D	0.90686	0.7078	M	0.87180	2.865	0.50039	D	0.999843	D	0.71674	0.998	D	0.64776	0.929	D	0.92025	0.5629	10	0.72032	D	0.01	-26.3931	18.8014	0.92018	0.0:1.0:0.0:0.0	.	422	Q9UFE4	CCD39_HUMAN	K	506;422	ENSP00000273654:E506K;ENSP00000405708:E422K	ENSP00000273654:E506K	E	-	1	0	CCDC39	181848745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.114000	0.50383	2.536000	0.85505	0.558000	0.71614	GAA	.		0.378	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		T	180366051	C	T	180366051	3	4	31	1	0	0	0	0	1	0	0	0	2818	922	32	3	1605	3	CCDC39	3	180366051	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1033274	180366051	17656379	608	6160											
CCDC39	339829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	180369189	180369189	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattaaaactaaactttacCttcacatctttttcctcctc	0	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:180369189C>T	ENST00000442201.2	-	9	1286	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CCDC39_ENST00000273654.4_Splice_Site_p.K473K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	389					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAAACTTTACCTTCACATCTT	0.328																																					p.K389K		.											.	CCDC39-72	0			c.G1167A						.						86	72	76					3																	180369189		1787	4044	5831	SO:0001630	splice_region_variant	339829	exon9			CTTTACCTTCACA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1167+1G>A	3.37:g.180369189C>T		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	40	17	NM_181426	0	0	0	0	0	B4E2H1	Silent	SNP	ENST00000442201.2	37	CCDS46964.1																																																																																			.		0.328	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	Silent	T	180369189	C	T	180369189	5	4	31	1	0	0	0	0	0	0	1	0	2818	695	24	3	1706	3	CCDC39	3	180369189	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3138	180369189	17653241	609	6161											
SOX2	6657	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	181430384	181430384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcctgggcgccgagtGgaaacttttgtcggagacgg	16	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:181430384G>T	ENST00000325404.1	+	1	663	c.236G>T	c.(235-237)tGg>tTg	p.W79L	SOX2_ENST00000431565.2_Missense_Mutation_p.W79L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	79					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)			GGCGCCGAGTGGAAACTTTTG	0.612			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.W79L		.		Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	SOX2-650	0			c.G236T						.						40	44	42					3																	181430384		2203	4300	6503	SO:0001583	missense	6657	exon1			CCGAGTGGAAACT	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.236G>T	3.37:g.181430384G>T	ENSP00000323588:p.Trp79Leu	Somatic	265	1		WXS	Illumina GAIIx	Phase_I	312	38	NM_003106	0	0	0	0	0	Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054771	0.36277	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.99454	-5.92;-5.92	4.89	4.01	0.46588	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.065953	0.64402	N	0.000003	D	0.99757	0.9902	H	0.99964	5.085	0.80722	D	1	P	0.36315	0.547	P	0.51016	0.656	D	0.96352	0.9259	10	0.87932	D	0	.	13.9292	0.63983	0.0:0.0:0.8467:0.1533	.	79	P48431	SOX2_HUMAN	L	79	ENSP00000439111:W79L;ENSP00000323588:W79L	ENSP00000323588:W79L	W	+	2	0	SOX2	182913078	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.860000	0.86993	1.156000	0.42514	0.561000	0.74099	TGG	.		0.612	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		T	181430384	G	T	181430384	3	4	31	1	0	0	0	0	1	0	0	0	14994	1357	47	3	238	3	SOX2	3	181430384	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1061195	181430384	16592046	610	6162											
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183013226	183013226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgtgaaatatttcctGgacatcatccagcctctgca	6	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:183013226G>T	ENST00000328913.3	-	13	1834	c.1537C>A	c.(1537-1539)Cag>Aag	p.Q513K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q513K|MCF2L2_ENST00000414362.2_Missense_Mutation_p.Q513K|MCF2L2_ENST00000447025.2_Missense_Mutation_p.Q513K|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	513							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATATTTCCTGGACATCATCC	0.478																																					p.Q513K		.											.	MCF2L2-293	0			c.C1537A						.						150	126	134					3																	183013226		2203	4300	6503	SO:0001583	missense	23101	exon13			TTTCCTGGACATC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1537C>A	3.37:g.183013226G>T	ENSP00000328118:p.Gln513Lys	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	159	29	NM_015078	0	0	0	0	0	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586959	0.66105	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.05081	4.64;4.66;3.77;3.5	4.82	3.93	0.45458	.	0.073671	0.56097	D	0.000026	T	0.15998	0.0385	M	0.74647	2.275	0.80722	D	1	P;P	0.45044	0.849;0.78	P;B	0.49829	0.623;0.123	T	0.02115	-1.1211	10	0.37606	T	0.19	.	14.6918	0.69091	0.0:0.0:0.8542:0.1458	.	513;513	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	K	513;513;513;49;513	ENSP00000328118:Q513K;ENSP00000420070:Q513K;ENSP00000388190:Q513K;ENSP00000414131:Q513K	ENSP00000328118:Q513K	Q	-	1	0	MCF2L2	184495920	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	6.934000	0.75880	1.255000	0.44051	0.650000	0.86243	CAG	.		0.478	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	183013226	G	T	183013226	3	4	31	1	0	0	0	0	1	0	0	0	9418	1357	47	3	1879	3	MCF2L2	3	183013226	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1582842	183013226	15009204	611	6163											
ABCC5	10057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	183679297	183679297	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaacaccatcagatcttAcctcaactggcggtgtctct	7	14	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:183679297A>T	ENST00000334444.6	-	16	2620		c.e16+1		ABCC5_ENST00000265586.6_Splice_Site	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATCAGATCTTACCTCAACTGG	0.478																																					.		.											.	ABCC5-137	0			c.2379+2T>A						.						62	66	65					3																	183679297		2125	4244	6369	SO:0001630	splice_region_variant	10057	exon17			GATCTTACCTCAA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2379+1T>A	3.37:g.183679297A>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	107	53	NM_005688	0	0	0	0	0	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Splice_Site	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843469	0.32606	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0371	0.71757	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC5	185161991	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	6.536000	0.73842	1.959000	0.56917	0.482000	0.46254	.	.		0.478	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	Intron	T	183679297	A	T	183679297	5	4	31	1	0	0	0	0	0	0	1	0	56	405	14	5	1992	5	ABCC5	3	183679297	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	666071	183679297	14343133	612	6164											
CHRD	8646	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	184105719	184105719	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaatggatccctacagGggggcactggagaggtgcac	15	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:184105719G>T	ENST00000204604.1	+	20	2698	c.2452G>T	c.(2452-2454)Ggg>Tgg	p.G818W	CHRD_ENST00000450923.1_Splice_Site_p.G818W|CHRD_ENST00000545352.1_Splice_Site_p.G360W|CHRD_ENST00000348986.3_Splice_Site_p.G778W|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	818	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCTACAGGGGGGCACTGG	0.607																																					p.G818W		.											.	CHRD-93	0			c.G2452T						.						37	30	33					3																	184105719		2203	4299	6502	SO:0001630	splice_region_variant	8646	exon20			CTACAGGGGGGCA	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2452-1G>T	3.37:g.184105719G>T		Somatic	181	1		WXS	Illumina GAIIx	Phase_I	231	30	NM_003741	0	0	0	0	0	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.57|19.57	3.851664|3.851664	0.71719|0.71719	.|.	.|.	ENSG00000090539|ENSG00000090539	ENST00000342610|ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	.|T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25	4.4|4.4	4.4|4.4	0.53042|0.53042	.|von Willebrand factor, type C (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.44542|0.44542	1.39|1.39	0.37492|0.37492	D|D	0.916405|0.916405	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.996;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.992;0.949;0.998	T|T	0.76534|0.76534	-0.2924|-0.2924	6|9	.|.	.|.	.|.	-17.0109|-17.0109	14.0867|14.0867	0.64962|0.64962	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|360;778;818;818	.|B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.|.;.;.;CHRD_HUMAN	V|W	496|818;818;778;360	.|ENSP00000204604:G818W;ENSP00000408972:G818W;ENSP00000334036:G778W;ENSP00000442948:G360W	.|.	G|G	+|+	2|1	0|0	CHRD|CHRD	185588413|185588413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.727000|5.727000	0.68523|0.68523	2.178000|2.178000	0.69098|0.69098	0.557000|0.557000	0.71058|0.71058	GGG|GGG	.		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Missense_Mutation	T	184105719	G	T	184105719	5	4	31	1	0	0	0	0	0	0	1	0	3379	1246	43	3	2530	3	CHRD	3	184105719	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	426422	184105719	13916711	613	6165											
SENP2	59343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	185337191	185337191	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcctaaattaaagtctggGggttaccaagcagtgaaacg	10	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:185337191G>T	ENST00000296257.5	+	13	1587	c.1347G>T	c.(1345-1347)ggG>ggT	p.G449G	SENP2_ENST00000545472.1_Silent_p.G439G|SENP2_ENST00000427465.2_Silent_p.G273G	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	449	Protease.				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)			TAAAGTCTGGGGGTTACCAAG	0.388																																					p.G449G		.											.	SENP2-658	0			c.G1347T						.						72	76	75					3																	185337191		2203	4300	6503	SO:0001819	synonymous_variant	59343	exon13			GTCTGGGGGTTAC	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.1347G>T	3.37:g.185337191G>T		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	89	54	NM_021627	0	0	0	0	0	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	CCDS33902.1																																																																																			.		0.388	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		T	185337191	G	T	185337191	2	4	31	1	0	0	0	0	0	0	0	1	14092	1219	43	3		3	SENP2	3	185337191	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1231472	185337191	12685239	614	6166											
FETUB	26998	hgsc.bcm.edu	37	chr3	186358823	186358823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccccttcccacagggtgGcctgggatctctgttctatc	9	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:186358823G>T	ENST00000265029.3	+	2	331	c.230G>T	c.(229-231)gGc>gTc	p.G77V	FETUB_ENST00000382134.3_Intron|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Intron|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_Intron|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G77V	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	77	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCACAGGGTGGCCTGGGATCT	0.448																																					p.G77V		.											.	FETUB-92	0			c.G230T						.						85	77	80					3																	186358823		2203	4300	6503	SO:0001583	missense	26998	exon2			AGGGTGGCCTGGG	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.230G>T	3.37:g.186358823G>T	ENSP00000265029:p.Gly77Val	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_014375	0	0	0	0	0	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	6.762	0.509440	0.12883	.	.	ENSG00000090512	ENST00000450521;ENST00000265029	T;T	0.41400	1.0;1.0	5.11	-9.4	0.00616	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.927620	0.02193	N	0.061504	T	0.32615	0.0835	L	0.33485	1.01	0.09310	N	1	B	0.32010	0.351	B	0.35182	0.197	T	0.29852	-0.9998	10	0.32370	T	0.25	2.1245	12.8453	0.57827	0.659:0.0843:0.2567:0.0	.	77	Q9UGM5	FETUB_HUMAN	V	77	ENSP00000404288:G77V;ENSP00000265029:G77V	ENSP00000265029:G77V	G	+	2	0	FETUB	187841517	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-3.596000	0.00420	-3.106000	0.00243	-1.731000	0.00696	GGC	.		0.448	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		T	186358823	G	T	186358823	3	4	31	1	0	0	0	0	1	0	0	0	5843	1203	42	3	236	3	FETUB	3	186358823	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1021632	186358823	11663607	615	6167											
HRG	3273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	186389494	186389494	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgctacagaaaacaagcCaacaaagcccttgagaagta	9	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:186389494C>A	ENST00000232003.4	+	4	554	c.474C>A	c.(472-474)gcC>gcA	p.A158A		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	158	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAAAACAAGCCAACAAAGCCC	0.458																																					p.A158A		.											.	HRG-91	0			c.C474A						.						94	96	95					3																	186389494		2203	4300	6503	SO:0001819	synonymous_variant	3273	exon4			ACAAGCCAACAAA		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.474C>A	3.37:g.186389494C>A		Somatic	219	1		WXS	Illumina GAIIx	Phase_I	263	130	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																			.		0.458	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		A	186389494	C	A	186389494	2	1	31	1	0	0	0	0	0	0	0	1	7381	581	21	3		3	HRG	3	186389494	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	30671	186389494	11632936	616	6168											
CCDC50	152137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	191107354	191107354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacaaaccagcagagttcCacacggcatttctcaaaatc	5	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:191107354C>T	ENST00000392455.3	+	10	1462	c.864C>T	c.(862-864)tcC>tcT	p.S288S	CCDC50_ENST00000392456.3_Silent_p.S464S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	288						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCAGAGTTCCACACGGCATT	0.398																																					p.S464S		.											.	CCDC50-90	0			c.C1392T						.						199	198	198					3																	191107354		2203	4300	6503	SO:0001819	synonymous_variant	152137	exon11			GAGTTCCACACGG	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.864C>T	3.37:g.191107354C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	138	52	NM_178335	0	0	0	0	0	Q86VH7	Silent	SNP	ENST00000392455.3	37	CCDS33913.1																																																																																			.		0.398	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		T	191107354	C	T	191107354	2	4	31	1	0	0	0	0	0	0	0	1	2827	581	21	3		3	CCDC50	3	191107354	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4717860	191107354	6915076	617	6169											
OPA1	4976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	193376763	193376763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttattttatggaagaggctCtgcaggctcgtctcaaggat	11	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:193376763C>T	ENST00000392438.3	+	22	2488	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	OPA1_ENST00000361908.3_Silent_p.L789L|OPA1_ENST00000361510.2_Silent_p.L807L|OPA1_ENST00000361150.2_Silent_p.L753L|OPA1_ENST00000361715.2_Silent_p.L771L|OPA1_ENST00000361828.2_Silent_p.L770L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	752					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)		GGAAGAGGCTCTGCAGGCTCG	0.408																																					p.L807L		.											.	OPA1-68	0			c.C2419T						.						99	98	98					3																	193376763		2203	4300	6503	SO:0001819	synonymous_variant	4976	exon24			GAGGCTCTGCAGG	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.2254C>T	3.37:g.193376763C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	108	20	NM_130837	0	0	0	0	0	D3DNW4	Silent	SNP	ENST00000392438.3	37	CCDS43186.1																																																																																			.		0.408	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		T	193376763	C	T	193376763	2	4	31	1	0	0	0	0	0	0	0	1	10910	912	32	3		3	OPA1	3	193376763	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2269409	193376763	4645667	618	6170											
LRRC15	131578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	194080771	194080771	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttagcccgttgaaggcaccCggggagatgaagctgatctg	15	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:194080771C>A	ENST00000347624.3	-	2	1087	c.1002G>T	c.(1000-1002)ccG>ccT	p.P334P	LRRC15_ENST00000439944.2_Silent_p.P340P|LRRC15_ENST00000428839.1_Silent_p.P340P	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	334					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)		TGAAGGCACCCGGGGAGATGA	0.572																																					p.P340P		.											.	LRRC15-71	0			c.G1020T						.						52	50	51					3																	194080771		2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			GGCACCCGGGGAG	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.1002G>T	3.37:g.194080771C>A		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	183	28	NM_001135057	0	0	0	0	0	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			.		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194080771	C	A	194080771	2	1	31	1	0	0	0	0	0	0	0	1	9005	639	23	2		2	LRRC15	3	194080771	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	704008	194080771	3941659	619	6171											
ACAP2	23527	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	195022705	195022705	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctacccaccggtgaattcCggagcactcgatacacaagg	10	14	0	1	rs372230587		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:195022705C>A	ENST00000326793.6	-	14	1545	c.1315G>T	c.(1315-1317)Gga>Tga	p.G439*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	439	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGTGAATTCCGGAGCACTCG	0.512																																					p.G439X		.											.	ACAP2-136	0			c.G1315T						.						109	114	113					3																	195022705		2203	4300	6503	SO:0001587	stop_gained	23527	exon14			GAATTCCGGAGCA		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1315G>T	3.37:g.195022705C>A	ENSP00000324287:p.Gly439*	Somatic	180	1		WXS	Illumina GAIIx	Phase_I	213	39	NM_012287	0	0	0	0	0	A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	41	8.635523	0.98895	.	.	ENSG00000114331	ENST00000326793	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000324287:G439X	G	-	1	0	ACAP2	196503994	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GGA	.		0.512	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195022705	C	A	195022705	4	1	31	1	0	0	0	0	0	1	0	0	119	661	23	2	1061	2	ACAP2	3	195022705	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	941934	195022705	2999725	620	6172											
PIGZ	80235	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	196674222	196674222	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taccacaaagaggcggcagaGccatggcccaccagccactt	10	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:196674222G>C	ENST00000412723.1	-	3	1692	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	516					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGCGGCAGAGCCATGGCCCA	0.587																																					p.L516V		.											.	PIGZ-93	0			c.C1546G						.						44	45	45					3																	196674222		2203	4300	6503	SO:0001583	missense	80235	exon3			GGCAGAGCCATGG	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1546C>G	3.37:g.196674222G>C	ENSP00000413405:p.Leu516Val	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	114	56	NM_025163	0	0	0	0	0	Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481792	0.26598	.	.	ENSG00000119227	ENST00000412723	T	0.11930	2.73	5.09	4.22	0.49857	.	0.186507	0.26352	N	0.024875	T	0.10637	0.0260	L	0.27053	0.805	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.10776	-1.0615	10	0.28530	T	0.3	-13.0555	13.1809	0.59653	0.0777:0.0:0.9223:0.0	.	516	Q86VD9	PIGZ_HUMAN	V	516	ENSP00000413405:L516V	ENSP00000413405:L516V	L	-	1	0	PIGZ	198158619	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.419000	0.34793	1.298000	0.44778	-0.254000	0.11334	CTC	.		0.587	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		C	196674222	G	C	196674222	3	2	31	1	0	0	0	0	1	0	0	0	11944	971	34	3	197	3	PIGZ	3	196674222	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1651517	196674222	1348208	621	6173											
KIAA0226	9711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	197402298	197402298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctgccctcaccttcaCaggtccggcacttatggagc	9	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:197402298C>A	ENST00000296343.5	-	19	2734	c.2735G>T	c.(2734-2736)tGt>tTt	p.C912F	MIR922_ENST00000401223.1_RNA|KIAA0226_ENST00000273582.5_Missense_Mutation_p.C867F	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	912	Cys-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCACCTTCACAGGTCCGGCA	0.552																																					p.C912F	Esophageal Squamous(3;167 355 3763 15924)	.											.	KIAA0226-22	0			c.G2735T						.						161	159	160					3																	197402298		2056	4205	6261	SO:0001583	missense	9711	exon19			CCTTCACAGGTCC	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.2735G>T	3.37:g.197402298C>A	ENSP00000296343:p.Cys912Phe	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	65	31	NM_014687	0	0	0	0	0	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485233	0.84854	.	.	ENSG00000145016	ENST00000273582;ENST00000296343	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	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	0.92729	0.6198	9	0.87932	D	0	.	19.4092	0.94662	0.0:1.0:0.0:0.0	.	867;912	Q92622-2;Q92622	.;RUBIC_HUMAN	F	867;912	.	ENSP00000273582:C867F	C	-	2	0	KIAA0226	198886695	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.790000	0.85794	2.591000	0.87537	0.591000	0.81541	TGT	.		0.552	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		A	197402298	C	A	197402298	3	1	31	1	0	0	0	0	1	0	0	0	8189	478	17	3	191	3	KIAA0226	3	197402298	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	728076	197402298	620132	622	6174											
KIAA0226	9711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	197420601	197420601	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttaccttggatttcaaattCatcaacctcatcagcagagc	5	12	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:197420601C>T	ENST00000296343.5	-	11	1770	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E591K|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E546K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	591	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATTTCAAATTCATCAACCTCA	0.428																																					p.E591K	Esophageal Squamous(3;167 355 3763 15924)	.											.	KIAA0226-22	0			c.G1771A						.						72	73	72					3																	197420601		1940	4155	6095	SO:0001583	missense	9711	exon11			CAAATTCATCAAC	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.1771G>A	3.37:g.197420601C>T	ENSP00000296343:p.Glu591Lys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	86	20	NM_014687	0	0	0	0	0	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.937377|3.937377	0.73557|0.73557	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	T;T|.	0.42900|.	0.96;0.96|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.191374|.	0.44688|.	D|.	0.000421|.	T|T	0.57873|0.57873	0.2083|0.2083	L|L	0.36672|0.36672	1.1|1.1	0.35920|0.35920	D|D	0.831721|0.831721	P;P;P|.	0.41232|.	0.743;0.619;0.485|.	B;B;B|.	0.43536|.	0.423;0.329;0.176|.	T|T	0.62077|0.62077	-0.6930|-0.6930	10|5	0.33940|.	T|.	0.23|.	.|.	15.2125|15.2125	0.73238|0.73238	0.0:0.8598:0.1401:0.0|0.0:0.8598:0.1401:0.0	.|.	591;546;591|.	Q92622-3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	K|I	546;591;591|349	ENSP00000273582:E546K;ENSP00000296343:E591K|.	ENSP00000273582:E546K|.	E|M	-|-	1|3	0|0	KIAA0226|KIAA0226	198904998|198904998	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	4.885000|4.885000	0.63142|0.63142	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GAA|ATG	.		0.428	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		T	197420601	C	T	197420601	3	4	31	1	0	0	0	0	1	0	0	0	8189	835	29	3	1187	3	KIAA0226	3	197420601	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	18303	197420601	601829	623	6175											
KIAA1530	57654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1373968	1373968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtgcagcactggtgcCgtgccccgaggccagacggc	15	15	0	1	rs567453502		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:1373968C>T	ENST00000389851.4	+	11	2149	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	UVSSA_ENST00000512728.1_Missense_Mutation_p.R119C|UVSSA_ENST00000511563.1_Missense_Mutation_p.R119C|UVSSA_ENST00000507531.1_Missense_Mutation_p.R568C|UVSSA_ENST00000511216.1_Missense_Mutation_p.R568C	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	568					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCACTGGTGCCGTGCCCCGAG	0.677																																					p.R568C		.											.	.	0			c.C1702T						.						52	48	50					4																	1373968		2201	4300	6501	SO:0001583	missense	57654	exon11			TGGTGCCGTGCCC	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1702C>T	4.37:g.1373968C>T	ENSP00000374501:p.Arg568Cys	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	288	122	NM_020894	0	0	0	0	0	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033971	0.35893	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.51574	1.24;1.24;1.24;0.7;0.7	4.87	3.97	0.46021	.	0.241113	0.42420	D	0.000717	T	0.68220	0.2977	M	0.82630	2.6	0.36793	D	0.884946	D	0.89917	1.0	D	0.70716	0.97	T	0.77996	-0.2377	10	0.87932	D	0	.	12.4999	0.55950	0.1215:0.745:0.1335:0.0	.	568	Q2YD98	K1530_HUMAN	C	119;568;568;568;119;119	ENSP00000425130:R568C;ENSP00000374501:R568C;ENSP00000421741:R568C;ENSP00000423340:R119C;ENSP00000427701:R119C	ENSP00000296312:R119C	R	+	1	0	KIAA1530	1363968	1.000000	0.71417	0.844000	0.33320	0.012000	0.07955	1.922000	0.40045	2.238000	0.73509	0.561000	0.74099	CGT	.		0.677	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		T	1373968	C	T	1373968	3	4	31	1	0	0	0	0	1	0	0	0	8268	652	23	1	1740	1	KIAA1530	4	1373968	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		1373968	189780308	624	6176											
CRIPAK	285464	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1388416	1388416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgctcacacatgtcgAtgcggagtgcccgcctgctc	11	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:1388416A>G	ENST00000324803.4	+	1	3077	c.117A>G	c.(115-117)cgA>cgG	p.R39R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	39					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACATGTCGATGCGGAGTGC	0.642																																					p.R39R		.											.	CRIPAK-90	0			c.A117G						.						204	195	198					4																	1388416		2203	4300	6503	SO:0001819	synonymous_variant	285464	exon1			ATGTCGATGCGGA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.117A>G	4.37:g.1388416A>G		Somatic	117	1		WXS	Illumina GAIIx	Phase_I	131	38	NM_175918	0	0	0	0	0	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			.		0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388416	A	G	1388416	2	3	31	1	0	0	0	0	0	0	0	1	3884	320	12	4		4	CRIPAK	4	1388416	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	14448	1388416	189765860	625	6177											
MSX1	4487	hgsc.bcm.edu;broad.mit.edu	37	chr4	4862086	4862086	+	Frame_Shift_Del	DEL	C	C	-													agagcccccgcttctccccgCcgccggccagtgagtagcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862086delC	ENST00000382723.4	+	1	694	c.460delC	c.(460-462)ccgfs	p.P155fs		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	155					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCTCCCCGCCGCCGGCCAG	0.731																																					p.P154fs		.											.	MSX1-90	0			c.460delC						.						8	10	10					4																	4862086		1781	3746	5527	SO:0001589	frameshift_variant	4487	exon1			TCCCCGCCGCCGG	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.460delC	4.37:g.4862086delC	ENSP00000372170:p.Pro155fs	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	25	15	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Frame_Shift_Del	DEL	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.731	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			-	4862086	C	-	4862086	7	5	31	1	0	1	0	1	0	0	0	0	9933	739	26	0	462	0	MSX1	4	4862086	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	3473670	4862086	186292190	626	6178	50	3									
MSX1	4487	hgsc.bcm.edu	37	chr4	4862087	4862088	+	Frame_Shift_Del	DEL	CG	CG	-													gagcccccgcttctccccgcCgccggccagtgagtagccag					rs545651715		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862087_4862088delCG	ENST00000382723.4	+	1	695_696	c.461_462delCG	c.(460-462)ccgfs	p.P155fs		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	155					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTCCCCGCCGCCGGCCAGTG	0.728																																					p.154_154del		.											.	MSX1-90	0			c.461_462del						.																																			SO:0001589	frameshift_variant	4487	exon1			CCCCGCCGCCGGC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.461_462delCG	4.37:g.4862087_4862088delCG	ENSP00000372170:p.Pro155fs	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	25	0	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Frame_Shift_Del	DEL	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.728	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			-	4862088	CG	-	4862087	7	5	31	1	0	1	0	1	0	0	0	0	9933	652	23	0	463	0	MSX1	4	4862087	Frame_Shift_Del	DEL	CG	TCGA-OR-A5KB-01A-11D-A30A-10	1	4862087	186292189	627	6179	50	3									
MSX1	4487	hgsc.bcm.edu	37	chr4	4862088	4862088	+	Silent	SNP	G	G	A													agcccccgcttctccccgccGccggccagtgagtagccaga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862088G>A	ENST00000382723.4	+	1	696	c.462G>A	c.(460-462)ccG>ccA	p.P154P		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	154					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCTCCCCGCCGCCGGCCAGTG	0.726																																					p.P154P		.											.	MSX1-90	0			c.G462A						.						8	10	10					4																	4862088		1755	3691	5446	SO:0001819	synonymous_variant	4487	exon1			CCCGCCGCCGGCC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.462G>A	4.37:g.4862088G>A		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	24	14	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.726	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			A	4862088	G	A	4862088	2	1	31	1	0	0	0	0	0	0	0	1	9933	1074	38	1		1	MSX1	4	4862088	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1	4862088	186292188	628	6180	50	3									
EVC	2121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	5749913	5749913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatggcaaatatccagcaCtttcttgtggaccagtttaa	8	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:5749913C>G	ENST00000264956.6	+	8	1162	c.978C>G	c.(976-978)caC>caG	p.H326Q	EVC_ENST00000509451.1_Missense_Mutation_p.H326Q|EVC_ENST00000382674.2_Missense_Mutation_p.H326Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	326					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATATCCAGCACTTTCTTGTGG	0.453																																					p.H326Q		.											.	EVC-92	0			c.C978G						.						112	109	110					4																	5749913		2203	4300	6503	SO:0001583	missense	2121	exon8			CCAGCACTTTCTT	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.978C>G	4.37:g.5749913C>G	ENSP00000264956:p.His326Gln	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	98	51	NM_153717	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484673	0.44147	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.45668	0.89;0.89;0.91	4.98	2.0	0.26442	.	0.477595	0.23795	N	0.044497	T	0.21841	0.0526	N	0.19112	0.55	0.58432	D	0.999995	B	0.17268	0.021	B	0.15484	0.013	T	0.04915	-1.0918	10	0.10902	T	0.67	.	7.711	0.28677	0.0:0.5577:0.3445:0.0978	.	326	P57679	EVC_HUMAN	Q	326	ENSP00000264956:H326Q;ENSP00000372120:H326Q;ENSP00000426774:H326Q	ENSP00000264956:H326Q	H	+	3	2	EVC	5800814	0.880000	0.30214	0.685000	0.30070	0.982000	0.71751	-0.010000	0.12743	1.089000	0.41292	0.609000	0.83330	CAC	.		0.453	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			G	5749913	C	G	5749913	3	3	31	1	0	0	0	0	1	0	0	0	5301	564	20	3	1008	3	EVC	4	5749913	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	887825	5749913	185404363	629	6181											
ZNF518B	85460	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	10446969	10446969	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcaacaactgtcaaTggcatacctggctgaacagg	12	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:10446969T>A	ENST00000326756.3	-	3	1422	c.984A>T	c.(982-984)ccA>ccT	p.P328P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	328					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACTGTCAATGGCATACCTG	0.438																																					p.P328P		.											.	ZNF518B-72	0			c.A984T						.						96	92	94					4																	10446969		2203	4300	6503	SO:0001819	synonymous_variant	85460	exon3			TGTCAATGGCATA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.984A>T	4.37:g.10446969T>A		Somatic	244	1		WXS	Illumina GAIIx	Phase_I	211	44	NM_053042	0	0	0	0	0	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																			.		0.438	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		A	10446969	T	A	10446969	2	1	31	1	0	0	0	0	0	0	0	1	18011	1451	51	5		5	ZNF518B	4	10446969	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4697056	10446969	180707307	630	6182											
BOD1L	259282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	13615256	13615256	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgatgtctgtaagtcCatccacatcagaatctatca	6	10	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:13615256C>A	ENST00000040738.5	-	5	1339	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	402	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGTAAGTCCATCCACATCA	0.353																																					p.G402X		.											.	.	0			c.G1204T						.						82	76	78					4																	13615256		2203	4300	6503	SO:0001587	stop_gained	259282	exon5			TAAGTCCATCCAC	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.1204G>T	4.37:g.13615256C>A	ENSP00000040738:p.Gly402*	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	98	24	NM_148894	0	0	0	0	0	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	38	6.871295	0.97901	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.18	5.18	0.71444	.	0.000000	0.41001	D	0.000968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.7246	19.0179	0.92901	0.0:1.0:0.0:0.0	.	.	.	.	X	402	.	ENSP00000040738:G402X	G	-	1	0	BOD1L	13224354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.721000	0.68477	2.573000	0.86826	0.591000	0.81541	GGA	.		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13615256	C	A	13615256	4	1	31	1	0	0	0	0	0	1	0	0	1485	603	21	3	8039	3	BOD1L	4	13615256	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3168287	13615256	177539020	631	6183											
CC2D2A	57545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	15512967	15512967	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaggaaaaaccaaaagcaaGacatagagcgggaactaatc	10	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:15512967G>C	ENST00000503292.1	+	9	818	c.638G>C	c.(637-639)aGa>aCa	p.R213T	CC2D2A_ENST00000413206.1_Missense_Mutation_p.R213T|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R164T|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R213T	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	213					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCAAAAGCAAGACATAGAGCG	0.448																																					p.R213T		.											.	CC2D2A-25	0			c.G638C						.						99	96	97					4																	15512967		1912	4123	6035	SO:0001583	missense	57545	exon9			AAGCAAGACATAG	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.638G>C	4.37:g.15512967G>C	ENSP00000421809:p.Arg213Thr	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	112	28	NM_001080522	0	0	0	0	0	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904605	0.17760	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.45	-0.584	0.11702	.	0.456568	0.22852	N	0.054841	T	0.18593	0.0446	L	0.40543	1.245	0.23889	N	0.996556	B;B;B	0.24426	0.043;0.103;0.045	B;B;B	0.26094	0.034;0.066;0.041	T	0.18999	-1.0319	10	0.56958	D	0.05	.	8.0209	0.30408	0.6286:0.0:0.3714:0.0	.	213;164;213	Q9P2K1;Q9P2K1-2;C9JKY6	C2D2A_HUMAN;.;.	T	213;213;164;164;213;213;164	ENSP00000403465:R213T;ENSP00000398391:R213T;ENSP00000422875:R213T;ENSP00000421809:R213T;ENSP00000374303:R164T	ENSP00000374303:R164T	R	+	2	0	CC2D2A	15122065	0.019000	0.18553	0.001000	0.08648	0.025000	0.11179	0.373000	0.20484	-0.071000	0.12886	-0.302000	0.09304	AGA	.		0.448	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		C	15512967	G	C	15512967	3	2	31	1	0	0	0	0	1	0	0	0	2735	942	33	3	867	3	CC2D2A	4	15512967	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1897711	15512967	175641309	632	6184											
BST1	683	broad.mit.edu	37	chr4	15717413	15717413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggttatgcatgaaattggggGacccaatgtgtaagttatgg	14	4	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:15717413G>T	ENST00000265016.4	+	6	890	c.695G>T	c.(694-696)gGa>gTa	p.G232V	BST1_ENST00000382346.3_Missense_Mutation_p.G247V	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	232					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAAATTGGGGGACCCAATGTG	0.318																																					p.G232V		.											.	BST1-90	0			c.G695T						.						71	74	73					4																	15717413		2203	4300	6503	SO:0001583	missense	683	exon6			TTGGGGGACCCAA	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.695G>T	4.37:g.15717413G>T	ENSP00000265016:p.Gly232Val	Somatic	66	2		WXS	Illumina GAIIx	Phase_I	62	21	NM_004334	0	0	0	0	0	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876545|2.876545	0.51801|0.51801	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	.|T;T;T	.|0.20463	.|2.07;2.07;2.07	5.56|5.56	2.8|2.8	0.32819|0.32819	.|NAD(P)-binding domain (1);	.|0.673374	.|0.15609	.|N	.|0.253476	T|T	0.40719|0.40719	0.1128|0.1128	M|M	0.78049|0.78049	2.395|2.395	0.25404|0.25404	N|N	0.98842|0.98842	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69307	.|0.963;0.932	T|T	0.15896|0.15896	-1.0421|-1.0421	5|10	.|0.72032	.|D	.|0.01	-4.6629|-4.6629	5.3634|5.3634	0.16101|0.16101	0.1773:0.0:0.6569:0.1658|0.1773:0.0:0.6569:0.1658	.|.	.|247;232	.|A6NC48;Q10588	.|.;BST1_HUMAN	Y|V	128;40|232;247;82	.|ENSP00000265016:G232V;ENSP00000371783:G247V;ENSP00000420925:G82V	.|ENSP00000265016:G232V	D|G	+|+	1|2	0|0	BST1|BST1	15326511|15326511	0.986000|0.986000	0.35501|0.35501	0.007000|0.007000	0.13788|0.13788	0.933000|0.933000	0.57130|0.57130	1.493000|1.493000	0.35605|0.35605	0.792000|0.792000	0.33850|0.33850	0.655000|0.655000	0.94253|0.94253	GAC|GGA	.		0.318	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		T	15717413	G	T	15717413	3	4	31	1	0	0	0	0	1	0	0	0	1537	1174	41	3	717	3	BST1	4	15717413	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	204446	15717413	175436863	633	6185											
CLRN2	645104	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	17524572	17524572	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttggccctggctctGgtcagcatgggctttgccat	13	13	2	0	rs375017288		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:17524572G>T	ENST00000511148.2	+	2	441	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	113			L -> V (in dbSNP:rs13147559).			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTGGCTCTGGTCAGCATGG	0.577																																					p.L113L		.											.	CLRN2-68	0			c.G339T						.						101	107	105					4																	17524572		2146	4253	6399	SO:0001819	synonymous_variant	645104	exon2			GGCTCTGGTCAGC		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.339G>T	4.37:g.17524572G>T		Somatic	103	1		WXS	Illumina GAIIx	Phase_I	99	26	NM_001079827	0	0	0	0	0		Silent	SNP	ENST00000511148.2	37	CCDS47032.1																																																																																			.		0.577	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		T	17524572	G	T	17524572	2	4	31	1	0	0	0	0	0	0	0	1	3565	1335	47	3		3	CLRN2	4	17524572	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1807159	17524572	173629704	634	6186											
DCAF16	54876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	17805608	17805608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcacttaacctgccaggCaagactctcaagaggcgata	10	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:17805608C>A	ENST00000382247.1	-	3	1217	c.157G>T	c.(157-159)Gcc>Tcc	p.A53S	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Missense_Mutation_p.A53S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	53					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ACCTGCCAGGCAAGACTCTCA	0.418																																					p.A53S		.											.	DCAF16-91	0			c.G157T						.						76	84	82					4																	17805608		2203	4300	6503	SO:0001583	missense	54876	exon3			GCCAGGCAAGACT	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.157G>T	4.37:g.17805608C>A	ENSP00000371682:p.Ala53Ser	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	77	8	NM_017741	0	0	0	0	0	B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779862	0.31502	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.38077	1.16;1.16	4.1	2.34	0.29019	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.21553	N	0.999641	B	0.30889	0.299	B	0.24269	0.052	T	0.14924	-1.0455	9	0.87932	D	0	-6.2557	5.66	0.17664	0.0:0.6925:0.1999:0.1076	.	53	Q9NXF7	DCA16_HUMAN	S	53	ENSP00000371682:A53S;ENSP00000445736:A53S	ENSP00000371682:A53S	A	-	1	0	DCAF16	17414706	0.998000	0.40836	0.996000	0.52242	0.678000	0.39670	0.612000	0.24283	0.672000	0.31204	-0.258000	0.10820	GCC	.		0.418	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		A	17805608	C	A	17805608	3	1	31	1	0	0	0	0	1	0	0	0	4277	710	25	3	497	3	DCAF16	4	17805608	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	281036	17805608	173348668	635	6187											
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	20530599	20530599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattatcgatcaaaattaaGtggagactgctttgcggatc	10	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20530599G>T	ENST00000504154.1	+	16	1742	c.1490G>T	c.(1489-1491)aGt>aTt	p.S497I	MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503823.1_Missense_Mutation_p.S489I|SLIT2_ENST00000273739.5_Missense_Mutation_p.S501I|SLIT2_ENST00000503837.1_Missense_Mutation_p.S493I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	497	LRRNT 3.				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						TCAAAATTAAGTGGAGACTGC	0.378																																					p.S497I		.											.	SLIT2-521	0			c.G1490T						.						107	110	109					4																	20530599		2203	4300	6503	SO:0001583	missense	9353	exon16			AATTAAGTGGAGA	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.1490G>T	4.37:g.20530599G>T	ENSP00000422591:p.Ser497Ile	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	42	5	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649685	0.67358	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81078	-1.43;-1.45;-1.36;-1.39	5.93	5.1	0.69264	.	0.039780	0.85682	D	0.000000	T	0.80523	0.4639	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.40875	0.684;0.731	B;B	0.43386	0.354;0.418	T	0.82484	-0.0434	10	0.87932	D	0	.	15.0996	0.72262	0.0677:0.0:0.9323:0.0	.	489;497	O94813-3;O94813	.;SLIT2_HUMAN	I	489;497;501;493;493	ENSP00000427548:S489I;ENSP00000422591:S497I;ENSP00000273739:S501I;ENSP00000422261:S493I	ENSP00000273739:S501I	S	+	2	0	SLIT2	20139697	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.628000	0.83189	1.512000	0.48834	-0.136000	0.14681	AGT	.		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			T	20530599	G	T	20530599	3	4	31	1	0	0	0	0	1	0	0	0	14785	1029	36	3	1552	3	SLIT2	4	20530599	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2724991	20530599	170623677	636	6188											
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20543086	20543086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctcttagaaacctcttgGccaatccttttaactgtaac	6	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20543086G>C	ENST00000504154.1	+	20	2239	c.1987G>C	c.(1987-1989)Gcc>Ccc	p.A663P	SLIT2_ENST00000503823.1_Missense_Mutation_p.A655P|SLIT2_ENST00000273739.5_Missense_Mutation_p.A667P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A659P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	663					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						AAACCTCTTGGCCAATCCTTT	0.458																																					p.A663P		.											.	SLIT2-521	0			c.G1987C						.						103	90	95					4																	20543086		2203	4300	6503	SO:0001583	missense	9353	exon20			CTCTTGGCCAATC	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.1987G>C	4.37:g.20543086G>C	ENSP00000422591:p.Ala663Pro	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	128	58	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928076	0.92389	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.77557	0.92;0.99	T	0.70970	-0.4727	10	0.33141	T	0.24	.	20.2386	0.98365	0.0:0.0:1.0:0.0	.	655;663	O94813-3;O94813	.;SLIT2_HUMAN	P	655;663;667;659;659	ENSP00000427548:A655P;ENSP00000422591:A663P;ENSP00000273739:A667P;ENSP00000422261:A659P	ENSP00000273739:A667P	A	+	1	0	SLIT2	20152184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.871000	0.98454	0.655000	0.94253	GCC	.		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20543086	G	C	20543086	3	2	31	1	0	0	0	0	1	0	0	0	14785	1203	42	3	2065	3	SLIT2	4	20543086	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	12487	20543086	170611190	637	6189											
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20550717	20550717	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtctgagatgtattcctcctCgcacctttgatggattaaag	9	9	1	2	rs143383158		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20550717C>G	ENST00000504154.1	+	24	2707	c.2455C>G	c.(2455-2457)Cgc>Ggc	p.R819G	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.R811G|SLIT2_ENST00000273739.5_Missense_Mutation_p.R823G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R815G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	819					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						TATTCCTCCTCGCACCTTTGA	0.353																																					p.R819G		.											.	SLIT2-521	0			c.C2455G						.						128	119	122					4																	20550717		2202	4299	6501	SO:0001583	missense	9353	exon24			CCTCCTCGCACCT	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.2455C>G	4.37:g.20550717C>G	ENSP00000422591:p.Arg819Gly	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	79	31	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333167	0.41297	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.77	5.77	0.91146	.	0.053482	0.64402	D	0.000001	T	0.31263	0.0791	N	0.01800	-0.715	0.47949	D	0.999559	B;B	0.14805	0.005;0.011	B;B	0.19391	0.009;0.025	T	0.17289	-1.0374	10	0.23302	T	0.38	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	811;819	O94813-3;O94813	.;SLIT2_HUMAN	G	811;819;823;815;815;20	ENSP00000427548:R811G;ENSP00000422591:R819G;ENSP00000273739:R823G;ENSP00000422261:R815G;ENSP00000421975:R20G	ENSP00000273739:R823G	R	+	1	0	SLIT2	20159815	0.789000	0.28775	0.993000	0.49108	0.992000	0.81027	1.522000	0.35921	2.890000	0.99128	0.585000	0.79938	CGC	C|1.000;T|0.000		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			G	20550717	C	G	20550717	3	3	31	1	0	0	0	0	1	0	0	0	14785	884	31	2	2549	2	SLIT2	4	20550717	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7631	20550717	170603559	638	6190											
PACRGL	133015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	20711305	20711305	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcactaacttttatattttaGattggtacatggttcagtaa	6	5	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20711305G>C	ENST00000503585.1	+	5	666		c.e5-1		PACRGL_ENST00000295290.8_Splice_Site|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000360916.5_Splice_Site|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000507634.1_Splice_Site|PACRGL_ENST00000444671.2_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like											endometrium(2)|lung(7)|prostate(1)	10						TTATATTTTAGATTGGTACAT	0.294																																					.		.											.	PACRGL-68	0			c.276-1G>C						.						95	99	98					4																	20711305		2203	4298	6501	SO:0001630	splice_region_variant	133015	exon5			ATTTTAGATTGGT	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.276-1G>C	4.37:g.20711305G>C		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	28	15	NM_001258345	0	0	0	0	0	B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Splice_Site	SNP	ENST00000503585.1	37	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733655	0.69189	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000514663;ENST00000509469;ENST00000513590;ENST00000507634;ENST00000506457	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACRGL	20320403	1.000000	0.71417	0.775000	0.31657	0.863000	0.49368	7.498000	0.81546	2.777000	0.95525	0.591000	0.81541	.	.		0.294	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048	Intron	C	20711305	G	C	20711305	5	2	31	1	0	0	0	0	0	0	1	0	11410	956	33	3	289	3	PACRGL	4	20711305	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	160588	20711305	170442971	639	6191											
PPARGC1A	10891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	23815899	23815899	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgtctagagtcttggagctCctgtgatatattaatgagta	10	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:23815899C>G	ENST00000264867.2	-	8	1326	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	403	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCTTGGAGCTCCTGTGATATA	0.443																																					p.E403Q	Esophageal Squamous(29;694 744 13796 34866 44181)	.											.	PPARGC1A-230	0			c.G1207C						.						70	71	70					4																	23815899		2203	4300	6503	SO:0001583	missense	10891	exon8			GGAGCTCCTGTGA	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1207G>C	4.37:g.23815899C>G	ENSP00000264867:p.Glu403Gln	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	45	19	NM_013261	0	0	0	0	0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597998	0.28445	.	.	ENSG00000109819	ENST00000264867	T	0.24723	1.84	6.16	6.16	0.99307	.	0.150022	0.64402	D	0.000011	T	0.30008	0.0751	M	0.64997	1.995	0.80722	D	1	B	0.31077	0.307	B	0.24155	0.051	T	0.03095	-1.1073	10	0.25751	T	0.34	-12.2623	20.8598	0.99761	0.0:1.0:0.0:0.0	.	403	Q9UBK2	PRGC1_HUMAN	Q	403	ENSP00000264867:E403Q	ENSP00000264867:E403Q	E	-	1	0	PPARGC1A	23424997	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.759000	0.55227	2.937000	0.99478	0.650000	0.86243	GAG	.		0.443	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		G	23815899	C	G	23815899	3	3	31	1	0	0	0	0	1	0	0	0	12339	864	30	3	1213	3	PPARGC1A	4	23815899	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3104594	23815899	167338377	640	6192											
STIM2	57620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	26997095	26997095	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttagagacaacaatgtcaaAggaacgacacttcccaggtg	9	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:26997095A>T	ENST00000467011.1	+	4	917	c.492A>T	c.(490-492)aaA>aaT	p.K164N	STIM2_ENST00000382009.3_Missense_Mutation_p.K251N|STIM2_ENST00000237364.5_Missense_Mutation_p.K251N|STIM2_ENST00000465503.1_Missense_Mutation_p.K164N|STIM2_ENST00000467087.1_Missense_Mutation_p.K164N|STIM2_ENST00000412829.2_Missense_Mutation_p.K251N	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	164	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATGTCAAAGGAACGACAC	0.388																																					p.K164N		.											.	STIM2-91	0			c.A492T						.						112	117	115					4																	26997095		2203	4300	6503	SO:0001583	missense	57620	exon4			TGTCAAAGGAACG	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.492A>T	4.37:g.26997095A>T	ENSP00000419383:p.Lys164Asn	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	57	20	NM_001169118	0	0	0	0	0	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	8.582	0.882570	0.17467	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.64	3.39	0.38822	.	0.255793	0.44688	D	0.000422	T	0.14141	0.0342	N	0.01729	-0.75	0.37202	D	0.904435	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12837	0.006;0.008;0.005	T	0.10042	-1.0647	10	0.09590	T	0.72	.	6.6436	0.22923	0.7757:0.0:0.0799:0.1444	.	251;251;251	A6H8L7;E9PGD0;F5GXJ4	.;.;.	N	164;251;251;164;251;164	ENSP00000419073:K164N;ENSP00000371439:K251N;ENSP00000237364:K251N;ENSP00000419383:K164N;ENSP00000404812:K251N;ENSP00000417569:K164N	ENSP00000237364:K251N	K	+	3	2	STIM2	26606193	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.715000	0.25822	0.682000	0.31407	0.482000	0.46254	AAA	.		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		T	26997095	A	T	26997095	3	4	31	1	0	0	0	0	1	0	0	0	15331	69	3	5	506	5	STIM2	4	26997095	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3181196	26997095	164157181	641	6193											
PCDH7	5099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30724205	30724205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcttcacggtcatggcCcgcgaccgcgggcagccccc	13	19	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30724205C>A	ENST00000361762.2	+	1	2169	c.1161C>A	c.(1159-1161)gcC>gcA	p.A387A	PCDH7_ENST00000543491.1_Silent_p.A387A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	387	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						CGGTCATGGCCCGCGACCGCG	0.637																																					p.A387A		.											.	PCDH7-229	0			c.C1161A						.						26	32	30					4																	30724205		2195	4292	6487	SO:0001819	synonymous_variant	5099	exon1			CATGGCCCGCGAC	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.1161C>A	4.37:g.30724205C>A		Somatic	226	1		WXS	Illumina GAIIx	Phase_I	378	166	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	6.838	0.523755	0.13066	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.48	2.7	0.31948	.	.	.	.	.	T	0.61937	0.2387	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	.	12.1074	0.53820	0.1255:0.5106:0.3639:0.0	.	.	.	.	T	77	.	.	P	+	1	0	PCDH7	30333303	0.958000	0.32768	1.000000	0.80357	0.812000	0.45895	0.112000	0.15479	0.234000	0.21139	-0.175000	0.13238	CCG	.		0.637	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30724205	C	A	30724205	2	1	31	1	0	0	0	0	0	0	0	1	11555	610	22	3		3	PCDH7	4	30724205	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3727110	30724205	160430071	642	6194											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30725203	30725203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtggatgggggagatcCtcccagatctgccacagcta	14	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30725203C>A	ENST00000361762.2	+	1	3167	c.2159C>A	c.(2158-2160)cCt>cAt	p.P720H	PCDH7_ENST00000543491.1_Missense_Mutation_p.P720H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	720	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGGGGAGATCCTCCCAGATCT	0.458																																					p.P720H		.											.	PCDH7-229	0			c.C2159A						.						101	97	98					4																	30725203		2203	4300	6503	SO:0001583	missense	5099	exon1			GAGATCCTCCCAG	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.2159C>A	4.37:g.30725203C>A	ENSP00000355243:p.Pro720His	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	167	42	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624883	0.66901	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.56941	0.43;0.43	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78929	0.4361	M	0.90198	3.095	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	0.83131	-0.0113	9	0.87932	D	0	.	19.0454	0.93018	0.0:1.0:0.0:0.0	.	720;673;720	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	H	720;720;673	ENSP00000355243:P720H;ENSP00000441802:P720H	ENSP00000330302:P673H	P	+	2	0	PCDH7	30334301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.722000	0.93159	0.655000	0.94253	CCT	.		0.458	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30725203	C	A	30725203	3	1	31	1	0	0	0	0	1	0	0	0	11555	681	24	3	2161	3	PCDH7	4	30725203	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	998	30725203	160429073	643	6195											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30726108	30726108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaaacaccaggccgtaCaagatctaccaccagccaac	6	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30726108C>A	ENST00000361762.2	+	1	4072	c.3064C>A	c.(3064-3066)Caa>Aaa	p.Q1022K	PCDH7_ENST00000543491.1_Missense_Mutation_p.Q1022K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1022					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						CCAGGCCGTACAAGATCTACC	0.468																																					p.Q1022K		.											.	PCDH7-229	0			c.C3064A						.						97	100	99					4																	30726108		2203	4300	6503	SO:0001583	missense	5099	exon1			GCCGTACAAGATC	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.3064C>A	4.37:g.30726108C>A	ENSP00000355243:p.Gln1022Lys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	122	41	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.46|18.46	3.629770|3.629770	0.67015|0.67015	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.46063|.	0.88;0.88|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.77512|0.77512	0.4141|0.4141	M|M	0.78456|0.78456	2.415|2.415	0.54753|0.54753	D|D	0.999983|0.999983	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.997;0.99;0.998|.	T|T	0.77814|0.77814	-0.2448|-0.2448	9|5	0.87932|.	D|.	0|.	.|.	18.2504|18.2504	0.90000|0.90000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1022;975;1022|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	K|K	1022;1022;975|711	ENSP00000355243:Q1022K;ENSP00000441802:Q1022K|.	ENSP00000330302:Q975K|.	Q|T	+|+	1|2	0|0	PCDH7|PCDH7	30335206|30335206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.320000|7.320000	0.79064|0.79064	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CAA|ACA	.		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30726108	C	A	30726108	3	1	31	1	0	0	0	0	1	0	0	0	11555	479	17	3	3066	3	PCDH7	4	30726108	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	905	30726108	160428168	644	6196											
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	36214095	36214095	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctgggtcaaaaattcattCtttatagatcgcttctatta	5	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:36214095C>A	ENST00000303965.4	-	5	1545	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	352					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.K352N(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						AAAATTCATTCTTTATAGATC	0.343																																					p.K352N		.											.	ARAP2-93	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T						.						106	101	102					4																	36214095		2203	4299	6502	SO:0001583	missense	116984	exon5			TTCATTCTTTATA	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.1056G>T	4.37:g.36214095C>A	ENSP00000302895:p.Lys352Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	28	9	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069728	0.36470	.	.	ENSG00000047365	ENST00000303965	T	0.10005	2.92	5.64	3.0	0.34707	.	0.533626	0.19756	N	0.106764	T	0.12944	0.0314	L	0.56769	1.78	0.34321	D	0.686619	P;P	0.41313	0.745;0.664	B;B	0.41236	0.351;0.102	T	0.14531	-1.0469	10	0.72032	D	0.01	.	8.1359	0.31054	0.0:0.7469:0.0:0.2531	.	282;352	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	N	352	ENSP00000302895:K352N	ENSP00000302895:K352N	K	-	3	2	ARAP2	35890490	0.446000	0.25665	0.989000	0.46669	0.663000	0.39108	0.081000	0.14823	0.412000	0.25729	0.655000	0.94253	AAG	.		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		A	36214095	C	A	36214095	3	1	31	1	0	0	0	0	1	0	0	0	839	912	32	3	4174	3	ARAP2	4	36214095	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5487987	36214095	154940181	645	6197											
CHRNA9	55584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	40337897	40337897	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttgtttaatgacctttttGaagattattctaatgctctt	6	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:40337897G>C	ENST00000310169.2	+	2	257	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	40					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TGACCTTTTTGAAGATTATTC	0.403																																					p.E40Q	Esophageal Squamous(115;1297 1602 22235 25158 43327)	.											.	CHRNA9-96	0			c.G118C						.						168	158	161					4																	40337897		2203	4300	6503	SO:0001583	missense	55584	exon2			CTTTTTGAAGATT	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.118G>C	4.37:g.40337897G>C	ENSP00000312663:p.Glu40Gln	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	162	41	NM_017581	0	0	0	0	0	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564854	0.45694	.	.	ENSG00000174343	ENST00000310169	T	0.80033	-1.33	5.76	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.043567	0.85682	D	0.000000	T	0.70509	0.3232	N	0.16368	0.405	0.53688	D	0.999974	B	0.24092	0.097	B	0.35114	0.196	T	0.69018	-0.5256	10	0.56958	D	0.05	.	10.6258	0.45506	0.0714:0.1342:0.7944:0.0	.	40	Q9UGM1	ACHA9_HUMAN	Q	40	ENSP00000312663:E40Q	ENSP00000312663:E40Q	E	+	1	0	CHRNA9	40032654	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.351000	0.73022	2.733000	0.93635	0.467000	0.42956	GAA	.		0.403	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			C	40337897	G	C	40337897	3	2	31	1	0	0	0	0	1	0	0	0	3396	1291	45	3	124	3	CHRNA9	4	40337897	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4123802	40337897	150816379	646	6198											
DCAF4L1	285429	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	41984385	41984385	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtcctgtgcgtggtccctCaacacccgggcatatcactg	11	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:41984385C>G	ENST00000333141.5	+	1	673	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	192										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CGTGGTCCCTCAACACCCGGG	0.567																																					p.L192L		.											.	DCAF4L1-23	0			c.C576G						.						118	112	114					4																	41984385		2203	4300	6503	SO:0001819	synonymous_variant	285429	exon1			GTCCCTCAACACC	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.576C>G	4.37:g.41984385C>G		Somatic	270	0		WXS	Illumina GAIIx	Phase_I	209	19	NM_001029955	0	0	0	0	0	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	CCDS33978.1																																																																																			.		0.567	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		G	41984385	C	G	41984385	2	3	31	1	0	0	0	0	0	0	0	1	4280	813	29	3		3	DCAF4L1	4	41984385	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1646488	41984385	149169891	647	6199											
GRXCR1	389207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	42895306	42895306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttaaaagggagatgaagcCagaaagtgacaggccacgga	14	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:42895306C>A	ENST00000399770.2	+	1	23	c.23C>A	c.(22-24)cCa>cAa	p.P8Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	8					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGATGAAGCCAGAAAGTGAC	0.512																																					p.P8Q		.											.	GRXCR1-23	0			c.C23A						.						91	98	96					4																	42895306		2027	4179	6206	SO:0001583	missense	389207	exon1			TGAAGCCAGAAAG		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.23C>A	4.37:g.42895306C>A	ENSP00000382670:p.Pro8Gln	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	242	43	NM_001080476	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711548	0.30322	.	.	ENSG00000215203	ENST00000399770	T	0.33654	1.4	5.83	5.83	0.93111	.	0.239925	0.33382	U	0.004973	T	0.29817	0.0745	N	0.22421	0.69	0.34619	D	0.718393	B	0.29085	0.232	B	0.32533	0.147	T	0.25502	-1.0130	10	0.18710	T	0.47	-8.4551	19.1238	0.93374	0.0:1.0:0.0:0.0	.	8	A8MXD5	GRCR1_HUMAN	Q	8	ENSP00000382670:P8Q	ENSP00000382670:P8Q	P	+	2	0	GRXCR1	42590063	0.042000	0.20092	0.979000	0.43373	0.018000	0.09664	2.101000	0.41787	2.755000	0.94549	0.650000	0.86243	CCA	.		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		A	42895306	C	A	42895306	3	1	31	1	0	0	0	0	1	0	0	0	6839	594	21	3	25	3	GRXCR1	4	42895306	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	910921	42895306	148258970	648	6200											
KCTD8	386617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	44177094	44177094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaggttggtgagctgttgCctgctgggcactggatgggt	18	6	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:44177094C>A	ENST00000360029.3	-	2	1418	c.1135G>T	c.(1135-1137)Gca>Tca	p.A379S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	379					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGAGCTGTTGCCTGCTGGGCA	0.502										HNSCC(17;0.042)																											p.A379S		.											.	KCTD8-92	0			c.G1135T						.						157	148	151					4																	44177094		2203	4300	6503	SO:0001583	missense	386617	exon2			CTGTTGCCTGCTG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1135G>T	4.37:g.44177094C>A	ENSP00000353129:p.Ala379Ser	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	108	32	NM_198353	0	0	0	0	0	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.264|3.264	-0.150461|-0.150461	0.06585|0.06585	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.36878|.	1.23|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	0.141093|.	0.32401|.	N|.	0.006159|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.02539|0.02539	-0.55|-0.55	0.31967|0.31967	N|N	0.607677|0.607677	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.16276|0.16276	-1.0408|-1.0408	10|5	0.31617|.	T|.	0.26|.	.|.	10.4115|10.4115	0.44296|0.44296	0.3042:0.6958:0.0:0.0|0.3042:0.6958:0.0:0.0	.|.	379|.	Q6ZWB6|.	KCTD8_HUMAN|.	S|S	379|114	ENSP00000353129:A379S|.	ENSP00000353129:A379S|.	A|R	-|-	1|3	0|2	KCTD8|KCTD8	43871851|43871851	0.930000|0.930000	0.31532|0.31532	0.996000|0.996000	0.52242|0.52242	0.124000|0.124000	0.20399|0.20399	0.353000|0.353000	0.20130|0.20130	2.469000|2.469000	0.83416|0.83416	0.585000|0.585000	0.79938|0.79938	GCA|AGG	.		0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			A	44177094	C	A	44177094	3	1	31	1	0	0	0	0	1	0	0	0	8142	739	26	3	290	3	KCTD8	4	44177094	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1281788	44177094	146977182	649	6201											
GABRG1	2565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	46060307	46060307	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaacaactgtcagaatGcatggaatgtaggtctgaat	11	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:46060307G>T	ENST00000295452.4	-	7	1010	c.843C>A	c.(841-843)tgC>tgA	p.C281*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	281					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGTCAGAATGCATGGAATGT	0.343																																					p.C281X		.											.	GABRG1-92	0			c.C843A						.						103	103	103					4																	46060307		2203	4300	6503	SO:0001587	stop_gained	2565	exon7			CAGAATGCATGGA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.843C>A	4.37:g.46060307G>T	ENSP00000295452:p.Cys281*	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	177	60	NM_173536	0	0	0	0	0	Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554874	0.96514	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.52	-0.775	0.10988	.	0.093829	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.035	0.47795	0.711:0.0:0.289:0.0	.	.	.	.	X	281	.	ENSP00000295452:C281X	C	-	3	2	GABRG1	45755064	0.999000	0.42202	0.995000	0.50966	0.880000	0.50808	0.553000	0.23391	-0.012000	0.14223	-0.151000	0.13558	TGC	.		0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		T	46060307	G	T	46060307	4	4	31	1	0	0	0	0	0	1	0	0	6195	1311	46	3	566	3	GABRG1	4	46060307	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1883213	46060307	145093969	650	6202											
SGCB	6443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	52895076	52895076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctttgttgtcccttgCtgaaaaacaatcttcaaaaa	6	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:52895076C>A	ENST00000381431.5	-	4	663	c.441G>T	c.(439-441)caG>caT	p.Q147H	SGCB_ENST00000535450.1_Missense_Mutation_p.Q77H	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	147	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTGTCCCTTGCTGAAAAACAA	0.294																																					p.Q147H		.											.	SGCB-90	0			c.G441T						.						53	52	53					4																	52895076		2203	4299	6502	SO:0001583	missense	6443	exon4			CCCTTGCTGAAAA	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.441G>T	4.37:g.52895076C>A	ENSP00000370839:p.Gln147His	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	45	15	NM_000232	0	0	0	0	0	B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990260	0.54041	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.050943	0.85682	D	0.000000	D	0.95085	0.8408	L	0.40543	1.245	0.80722	D	1	P;P	0.48998	0.918;0.918	P;P	0.57776	0.827;0.827	D	0.94771	0.7945	10	0.45353	T	0.12	-8.097	18.0782	0.89435	0.0:1.0:0.0:0.0	.	77;147	B7Z635;Q16585	.;SGCB_HUMAN	H	147;77	ENSP00000370839:Q147H;ENSP00000441199:Q77H	ENSP00000370839:Q147H	Q	-	3	2	SGCB	52589833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.076000	0.57591	2.528000	0.85240	0.655000	0.94253	CAG	.		0.294	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			A	52895076	C	A	52895076	3	1	31	1	0	0	0	0	1	0	0	0	14245	796	28	3	527	3	SGCB	4	52895076	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6834769	52895076	138259200	651	6203											
SPATA18	132671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	52944930	52944930	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgtagcaaaaatggcattCagacacttcaagatccatgt	7	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:52944930C>A	ENST00000295213.4	+	8	1424	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	SPATA18_ENST00000419395.2_Missense_Mutation_p.F318L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	350					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAATGGCATTCAGACACTTCA	0.388																																					p.F350L		.											.	SPATA18-72	0			c.C1050A						.						184	160	168					4																	52944930		2203	4300	6503	SO:0001583	missense	132671	exon8			GGCATTCAGACAC	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.1050C>A	4.37:g.52944930C>A	ENSP00000295213:p.Phe350Leu	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	105	27	NM_145263	0	0	0	0	0	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402534	0.42613	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27402	1.67;1.67	4.99	4.15	0.48705	.	0.116357	0.64402	D	0.000011	T	0.45895	0.1365	L	0.55481	1.735	0.36806	D	0.885639	D;D;D	0.71674	0.994;0.994;0.998	D;D;D	0.76071	0.922;0.922;0.987	T	0.53975	-0.8362	10	0.72032	D	0.01	-25.2119	7.6117	0.28135	0.0:0.8142:0.0:0.1857	.	318;350;350	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	350;318	ENSP00000295213:F350L;ENSP00000415309:F318L	ENSP00000295213:F350L	F	+	3	2	SPATA18	52639687	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	1.579000	0.36536	1.331000	0.45412	0.655000	0.94253	TTC	.		0.388	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		A	52944930	C	A	52944930	3	1	31	1	0	0	0	0	1	0	0	0	15050	825	29	3	1080	3	SPATA18	4	52944930	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49854	52944930	138209346	652	6204											
TMEM165	55858	hgsc.bcm.edu	37	chr4	56262374	56262374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcggccgcggctccAgggaacggccgcgcatcggc	19	14	0	0	rs1128141	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56262374A>G	ENST00000381334.5	+	1	251	c.18A>G	c.(16-18)ccA>ccG	p.P6P	TMEM165_ENST00000506198.1_Silent_p.P6P|TMEM165_ENST00000542052.1_5'UTR|SRD5A3-AS1_ENST00000599135.1_RNA|SRD5A3-AS1_ENST00000598819.1_RNA|SRD5A3-AS1_ENST00000592823.1_RNA|SRD5A3-AS1_ENST00000601433.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	6					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CCGCGGCTCCAGGGAACGGCC	0.751													a|||	3782	0.755192	0.8654	0.7176	5008	,	,		8141	0.6776		0.6511	False		,,,				2504	0.82				p.P6P		.											.	TMEM165-514	0			c.A18G						.						1	2	2					4																	56262374		1230	2885	4115	SO:0001819	synonymous_variant	55858	exon1			GGCTCCAGGGAAC	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.18A>G	4.37:g.56262374A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_018475	0	0	0	0	0	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	CCDS3499.1																																																																																			T|0.293;G|0.003		0.751	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		G	56262374	A	G	56262374	2	3	31	1	0	0	0	0	0	0	0	1	16127	175	7	4		4	TMEM165	4	56262374	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3317444	56262374	134891902	653	6205											
NMU	10874	hgsc.bcm.edu	37	chr4	56502304	56502304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggagcggggacGccgcggccacctgtccggcg	18	15	0	0	rs35771241	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56502304G>T	ENST00000264218.3	-	1	161	c.56C>A	c.(55-57)gCg>gAg	p.A19E	NMU_ENST00000505262.1_Missense_Mutation_p.A19E|NMU_ENST00000515325.1_Intron|NMU_ENST00000507338.1_Missense_Mutation_p.A19E|NMU_ENST00000511469.1_Missense_Mutation_p.A19E	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	19					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		gagcGGGGACGCCGCGGCCAC	0.761													G|||	88	0.0175719	0.0038	0.0245	5008	,	,		10083	0		0.0577	False		,,,				2504	0.0082				p.A19E		.											.	NMU-650	0			c.C56A	GRCh37	CM066152	NMU	M	rs35771241	.	G	GLU/ALA	34,3224		0,34,1595	5	7	6		56	1.1	0	4	dbSNP_126	6	262,5824		1,260,2782	no	missense	NMU	NM_006681.2	107	1,294,4377	TT,TG,GG		4.305,1.0436,3.1678	benign	19/175	56502304	296,9048	1629	3043	4672	SO:0001583	missense	10874	exon1			GGGGACGCCGCGG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.56C>A	4.37:g.56502304G>T	ENSP00000264218:p.Ala19Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	18	NM_006681	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	6	0.012195121951219513	16	0.04419889502762431	0	0.0	42	0.055408970976253295	G	14.57	2.576146	0.45902	0.010436	0.04305	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.38887	1.11;1.25;1.19;1.18	2.89	1.06	0.20224	.	0.337479	0.19087	U	0.123078	T	0.03959	0.0111	L	0.44542	1.39	0.09310	N	1	D	0.54397	0.966	P	0.45195	0.473	T	0.03784	-1.1004	10	0.52906	T	0.07	-8.0688	3.8411	0.08914	0.1476:0.2562:0.5962:0.0	rs35771241	19	P48645	NMU_HUMAN	E	19	ENSP00000422399:A19E;ENSP00000264218:A19E;ENSP00000424246:A19E;ENSP00000422870:A19E	ENSP00000264218:A19E	A	-	2	0	NMU	56197061	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.032000	0.12266	0.255000	0.21593	0.195000	0.17529	GCG	G|0.970;T|0.030		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56502304	G	T	56502304	3	4	31	1	0	0	0	0	1	0	0	0	10544	1087	38	2	504	2	NMU	4	56502304	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	239930	56502304	134651972	654	6206											
EXOC1	55763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	56763013	56763013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaaaatgctgagcgtcGtggagacctggataaagcat	11	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56763013G>T	ENST00000381295.2	+	16	2432	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	EXOC1_ENST00000349598.6_Missense_Mutation_p.R680L|EXOC1_ENST00000346134.7_Missense_Mutation_p.R695L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	695					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)					GCTGAGCGTCGTGGAGACCTG	0.333																																					p.R695L		.											.	EXOC1-950	0			c.G2084T						.						81	82	81					4																	56763013		2203	4300	6503	SO:0001583	missense	55763	exon16			AGCGTCGTGGAGA	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.2084G>T	4.37:g.56763013G>T	ENSP00000370695:p.Arg695Leu	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	79	29	NM_018261	0	0	0	0	0	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303112	0.95601	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84488	0.5483	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.987	D	0.85452	0.1161	9	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	680;695	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	695;695;680	.	ENSP00000326514:R695L	R	+	2	0	EXOC1	56457770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.461000	0.97646	2.814000	0.96858	0.563000	0.77884	CGT	.		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		T	56763013	G	T	56763013	3	4	31	1	0	0	0	0	1	0	0	0	5317	1145	40	2	2142	2	EXOC1	4	56763013	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	260709	56763013	134391263	655	6207											
POLR2B	5431	hgsc.bcm.edu;bcgsc.ca	37	chr4	57889607	57889609	+	In_Frame_Del	DEL	ATG	ATG	-													aacagtcaccttgcctgaaaAtgaagatgaattggagagca					rs372510748		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	ATG	ATG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:57889607_57889609delATG	ENST00000381227.1	+	20	3040_3042	c.2627_2629delATG	c.(2626-2631)aatgaa>aaa	p.876_877NE>K	POLR2B_ENST00000441246.2_In_Frame_Del_p.869_870NE>K|POLR2B_ENST00000314595.5_In_Frame_Del_p.876_877NE>K|POLR2B_ENST00000431623.2_In_Frame_Del_p.801_802NE>K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	876					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGCCTGAAAATGAAGATGAATT	0.443																																					p.876_877del		.											.	POLR2B-92	0			c.2627_2629del						.																																			SO:0001651	inframe_deletion	5431	exon19			CTGAAAATGAAGA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2627_2629delATG	4.37:g.57889607_57889609delATG	ENSP00000370625:p.Asn876_Glu877delinsLys	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	146	63	NM_000938	0	0	0	0	0	A8K1A8|Q8IZ61	In_Frame_Del	DEL	ENST00000381227.1	37	CCDS3511.1																																																																																			.		0.443	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		-	57889609	ATG	-	57889607	7	5	31	1	0	1	0	1	0	0	0	0	12254	101	4	0	2701	0	POLR2B	4	57889607	In_Frame_Del	DEL	ATG	TCGA-OR-A5KB-01A-11D-A30A-10	1126594	57889607	133264669	656	6208											
LPHN3	23284	ucsc.edu;bcgsc.ca	37	chr4	62910175	62910175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttttcccccacccagagccGaatccgtagaatgtggaatg	9	13	0	2	rs143689172	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:62910175G>T	ENST00000514591.1	+	24	3847	c.3518G>T	c.(3517-3519)cGa>cTa	p.R1173L	LPHN3_ENST00000512091.2_Missense_Mutation_p.R1173L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1241L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1164L|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1164L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1164L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1241L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1241L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1151					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						ACCCAGAGCCGAATCCGTAGA	0.403																																					p.R1173L		.											.	LPHN3-508	0			c.G3518T						.						53	51	52					4																	62910175		1909	4122	6031	SO:0001583	missense	23284	exon22			AGAGCCGAATCCG	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.3518G>T	4.37:g.62910175G>T	ENSP00000422533:p.Arg1173Leu	Somatic	451	3		WXS	Illumina GAIIx	Phase_I	332	130	NM_015236	0	0	0	0	0	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839274	0.71373	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.59;-0.62;-0.62;-0.61;-0.59;-0.62;-0.67;-0.67;-0.62;-0.64;-0.65;-0.78;-0.81;-0.79;-0.77	6.08	6.08	0.98989	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.994	D	0.86070	0.1537	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1173;1151;1173	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	L	1173;1173;1241;1232;1164;1173;1151;1173;1232;1241;1232;1164;1173;1173;1241;1232;1164	ENSP00000423388:R1173L;ENSP00000422533:R1173L;ENSP00000423787:R1241L;ENSP00000425033:R1232L;ENSP00000424120:R1164L;ENSP00000439831:R1173L;ENSP00000421476:R1232L;ENSP00000424030:R1241L;ENSP00000421372:R1232L;ENSP00000425201:R1164L;ENSP00000423434:R1173L;ENSP00000421627:R1173L;ENSP00000420931:R1241L;ENSP00000425884:R1232L;ENSP00000424258:R1164L	ENSP00000280009:R1173L	R	+	2	0	LPHN3	62592770	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGA	G|0.999;A|0.000		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62910175	G	T	62910175	3	4	31	1	0	0	0	0	1	0	0	0	8952	1058	37	2	3604	2	LPHN3	4	62910175	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5020568	62910175	128244101	657	6209											
TECRL	253017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	65180421	65180421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttccatcatatatacatgGgatcctcaaataaaagagga	6	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:65180421G>T	ENST00000381210.3	-	5	606	c.496C>A	c.(496-498)Cca>Aca	p.P166T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P166T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	166					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TATATACATGGGATCCTCAAA	0.383																																					p.P166T		.											.	TECRL-90	0			c.C496A						.						116	112	113					4																	65180421		2203	4300	6503	SO:0001583	missense	253017	exon5			TACATGGGATCCT	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.496C>A	4.37:g.65180421G>T	ENSP00000370607:p.Pro166Thr	Somatic	365	1		WXS	Illumina GAIIx	Phase_I	302	124	NM_001010874	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443849	0.04604	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.41758	0.99;0.99	5.7	-0.73	0.11154	.	0.431488	0.24635	N	0.036842	T	0.19127	0.0459	N	0.20845	0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.06826	-1.0805	10	0.41790	T	0.15	-0.141	0.3638	0.00368	0.344:0.2596:0.1876:0.2088	.	166;166	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	T	166	ENSP00000426043:P166T;ENSP00000370607:P166T	ENSP00000370607:P166T	P	-	1	0	TECRL	64863016	0.373000	0.25073	0.021000	0.16686	0.032000	0.12392	0.490000	0.22403	0.179000	0.19938	-0.216000	0.12614	CCA	.		0.383	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		T	65180421	G	T	65180421	3	4	31	1	0	0	0	0	1	0	0	0	15793	1232	43	3	627	3	TECRL	4	65180421	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2270246	65180421	125973855	658	6210											
EPHA5	2044	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	66201818	66201818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggcttggcagacgaTagccttcctctaccgcttta	10	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:66201818T>C	ENST00000273854.3	-	16	3284	c.2684A>G	c.(2683-2685)tAt>tGt	p.Y895C	EPHA5_ENST00000432638.2_Missense_Mutation_p.Y732C|EPHA5_ENST00000354839.4_Missense_Mutation_p.Y873C|EPHA5_ENST00000511294.1_Missense_Mutation_p.Y896C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGCAGACGATAGCCTTCCTC	0.438										TSP Lung(17;0.13)																											p.Y895C		.											.	EPHA5-1430	0			c.A2684G						.						92	78	83					4																	66201818		2203	4299	6502	SO:0001583	missense	2044	exon16			AGACGATAGCCTT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2684A>G	4.37:g.66201818T>C	ENSP00000273854:p.Tyr895Cys	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	105	42	NM_004439	0	0	0	0	0	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699470	0.88830	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000056	D	0.92011	0.7469	M	0.84773	2.715	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;1.0	D	0.93104	0.6511	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	874;896;873;895	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	895;732;873;896	ENSP00000273854:Y895C;ENSP00000389208:Y732C;ENSP00000346899:Y873C;ENSP00000427638:Y896C	ENSP00000273854:Y895C	Y	-	2	0	EPHA5	65884413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TAT	.		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		C	66201818	T	C	66201818	3	2	31	1	0	0	0	0	1	0	0	0	5186	1406	49	4	441	4	EPHA5	4	66201818	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1021397	66201818	124952458	659	6211											
EPHA5	2044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	66467370	66467370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcttaccttgacaggtgCcatttttctcttcatatcct	4	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:66467370C>A	ENST00000273854.3	-	3	1499	c.899G>T	c.(898-900)gGc>gTc	p.G300V	EPHA5_ENST00000432638.2_Missense_Mutation_p.G300V|EPHA5_ENST00000354839.4_Missense_Mutation_p.G300V|EPHA5_ENST00000511294.1_Missense_Mutation_p.G300V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	300	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGACAGGTGCCATTTTTCTC	0.498										TSP Lung(17;0.13)																											p.G300V		.											.	EPHA5-1430	0			c.G899T						.						100	107	105					4																	66467370		2203	4300	6503	SO:0001583	missense	2044	exon3			CAGGTGCCATTTT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.899G>T	4.37:g.66467370C>A	ENSP00000273854:p.Gly300Val	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	67	30	NM_004439	0	0	0	0	0	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731385	0.48939	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;D	0.97256	1.51;-0.86;1.51;-4.31	5.84	5.84	0.93424	.	0.229590	0.32533	N	0.005974	D	0.94601	0.8260	L	0.41824	1.3	0.58432	D	0.999995	B;B;B;P	0.40578	0.001;0.0;0.002;0.722	B;B;B;B	0.43809	0.004;0.004;0.008;0.432	D	0.92658	0.6139	10	0.48119	T	0.1	.	7.6461	0.28321	0.0:0.808:0.0:0.192	.	300;300;300;300	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	300	ENSP00000273854:G300V;ENSP00000389208:G300V;ENSP00000346899:G300V;ENSP00000427638:G300V	ENSP00000273854:G300V	G	-	2	0	EPHA5	66149965	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.527000	0.53517	2.779000	0.95612	0.655000	0.94253	GGC	.		0.498	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		A	66467370	C	A	66467370	3	1	31	1	0	0	0	0	1	0	0	0	5186	739	26	3	2278	3	EPHA5	4	66467370	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	265552	66467370	124686906	660	6212											
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	68492095	68492095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttttggtggcttcattaGataaaatagccttttctagt	7	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:68492095G>A	ENST00000322244.5	-	28	2560	c.2501C>T	c.(2500-2502)tCt>tTt	p.S834F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	834					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGCTTCATTAGATAAAATAGC	0.338																																					p.S834F		.											.	UBA6-90	0			c.C2501T						.						93	92	92					4																	68492095		2203	4297	6500	SO:0001583	missense	55236	exon28			TCATTAGATAAAA	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2501C>T	4.37:g.68492095G>A	ENSP00000313454:p.Ser834Phe	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	29	6	NM_018227	0	0	0	0	0	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499943	0.44455	.	.	ENSG00000033178	ENST00000322244	T	0.44881	0.91	4.89	4.89	0.63831	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.303615	0.36932	N	0.002337	T	0.32436	0.0829	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.12604	-1.0541	10	0.59425	D	0.04	-12.5156	13.068	0.59045	0.0:0.0:0.8392:0.1608	.	834	A0AVT1	UBA6_HUMAN	F	834	ENSP00000313454:S834F	ENSP00000313454:S834F	S	-	2	0	UBA6	68174690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.330000	0.72925	2.263000	0.75096	0.591000	0.81541	TCT	.		0.338	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		A	68492095	G	A	68492095	3	1	31	1	0	0	0	0	1	0	0	0	16881	942	33	3	681	3	UBA6	4	68492095	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2024725	68492095	122662181	661	6213											
TMPRSS11E	28983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69343119	69343119	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccagatggactgcttcctTtggagtaacaataaaacctt	8	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:69343119T>A	ENST00000305363.4	+	8	804	c.740T>A	c.(739-741)tTt>tAt	p.F247Y		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACTGCTTCCTTTGGAGTAACA	0.343																																					p.F247Y		.											.	TMPRSS11E-70	0			c.T740A						.						133	146	141					4																	69343119		2203	4296	6499	SO:0001583	missense	28983	exon8			CTTCCTTTGGAGT	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.740T>A	4.37:g.69343119T>A	ENSP00000307519:p.Phe247Tyr	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	199	80	NM_014058	0	0	0	0	0	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501742	0.85176	.	.	ENSG00000087128	ENST00000305363	D	0.88818	-2.43	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000198	D	0.89399	0.6704	L	0.38953	1.18	0.36745	D	0.882452	D	0.56968	0.978	P	0.56788	0.806	D	0.92247	0.5805	10	0.72032	D	0.01	.	12.9438	0.58362	0.0:0.0:0.0:1.0	.	247	Q9UL52	TM11E_HUMAN	Y	247	ENSP00000307519:F247Y	ENSP00000307519:F247Y	F	+	2	0	TMPRSS11E	69025714	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.556000	0.67307	1.941000	0.56285	0.477000	0.44152	TTT	.		0.343	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		A	69343119	T	A	69343119	3	1	31	1	0	0	0	0	1	0	0	0	16289	1841	64	5	770	5	TMPRSS11E	4	69343119	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	851024	69343119	121811157	662	6214											
UGT2A3	79799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69795545	69795545	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagatctattccctcttttCtatctttctagttttattaa	2	8	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:69795545C>G	ENST00000251566.4	-	6	1600	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E235Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	524					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCTCTTTTCTATCTTTCTA	0.348																																					p.E524Q		.											.	UGT2A3-92	0			c.G1570C						.						31	34	33					4																	69795545		2202	4295	6497	SO:0001583	missense	79799	exon6			TCTTTTCTATCTT		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1570G>C	4.37:g.69795545C>G	ENSP00000251566:p.Glu524Gln	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	57	25	NM_024743	0	0	0	0	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	5.158	0.214810	0.09810	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.81247	0.23;-1.47	2.05	-4.11	0.03928	.	0.445863	0.23780	N	0.044637	T	0.39989	0.1099	N	0.00436	-1.5	0.09310	N	1	B	0.13145	0.007	B	0.17722	0.019	T	0.48375	-0.9041	10	0.34782	T	0.22	.	3.98	0.09490	0.0:0.2824:0.1906:0.527	.	524	Q6UWM9	UD2A3_HUMAN	Q	524;235	ENSP00000251566:E524Q;ENSP00000440115:E235Q	ENSP00000251566:E524Q	E	-	1	0	UGT2A3	69830134	0.023000	0.18921	0.002000	0.10522	0.224000	0.24922	0.319000	0.19522	-0.950000	0.03659	0.313000	0.20887	GAA	.		0.348	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69795545	C	G	69795545	3	3	31	1	0	0	0	0	1	0	0	0	17004	922	32	3	17	3	UGT2A3	4	69795545	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	452426	69795545	121358731	663	6215											
HTN1	3346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	70920167	70920167	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtatagaagaaaattccaTgtaagtgttcttctgataat	9	4	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:70920167T>C	ENST00000511674.1	+	4	173	c.102T>C	c.(100-102)caT>caC	p.H34H	HTN1_ENST00000246896.3_Splice_Site_p.H34H			P15515	HIS1_HUMAN	histatin 1	34					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						GAAAATTCCATGTAAGTGTTC	0.259																																					p.H34H		.											.	HTN1-91	0			c.T102C						.						48	51	50					4																	70920167		2183	4277	6460	SO:0001630	splice_region_variant	3346	exon4			ATTCCATGTAAGT		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.102+1T>C	4.37:g.70920167T>C		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	108	18	NM_002159	0	0	0	0	0		Silent	SNP	ENST00000511674.1	37	CCDS3534.1																																																																																			.		0.259	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2		Silent	C	70920167	T	C	70920167	5	2	31	1	0	0	0	0	0	0	1	0	7461	1478	51	4	112	4	HTN1	4	70920167	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1124622	70920167	120234109	664	6216											
MUC7	4589	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	71346966	71346966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaagacaccacagctgccCcacccacaccttctgcaact	4	20	1	1	rs41413151	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:71346966C>A	ENST00000304887.5	+	3	695	c.505C>A	c.(505-507)Cca>Aca	p.P169T	MUC7_ENST00000413702.1_Missense_Mutation_p.P169T|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P169T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	169	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.527													C|||	70	0.0139776	0.0522	0.0014	5008	,	,		22551	0		0	False		,,,				2504	0				p.P169T		.											.	MUC7-93	0			c.C505A						.	C	THR/PRO,THR/PRO,THR/PRO	171,4235	112.5+/-150.6	1,169,2033	316	268	284		505,505,505	-3.5	0	4	dbSNP_127	284	0,8600		0,0,4300	yes	missense,missense,missense	MUC7	NM_152291.2,NM_001145007.1,NM_001145006.1	38,38,38	1,169,6333	AA,AC,CC		0.0,3.8811,1.3148	benign,benign,benign	169/378,169/378,169/378	71346966	171,12835	2203	4300	6503	SO:0001583	missense	4589	exon4			GCTGCCCCACCCA	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.505C>A	4.37:g.71346966C>A	ENSP00000302021:p.Pro169Thr	Somatic	276	1		WXS	Illumina GAIIx	Phase_I	254	126	NM_001145007	0	0	0	0	0	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	C	3.354	-0.131927	0.06753	0.038811	0.0	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.62941	-0.01;-0.01;-0.01	2.62	-3.5	0.04710	.	.	.	.	.	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.20988	0.05	B	0.20184	0.028	T	0.08027	-1.0742	8	.	.	.	-0.1422	3.0285	0.06098	0.5695:0.1812:0.1414:0.108	rs41413151	169	Q8TAX7	MUC7_HUMAN	T	169	ENSP00000407422:P169T;ENSP00000400585:P169T;ENSP00000302021:P169T	.	P	+	1	0	MUC7	71381555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.021000	0.12504	-1.012000	0.03387	-1.014000	0.02459	CCA	C|0.987;A|0.013		0.527	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		A	71346966	C	A	71346966	3	1	31	1	0	0	0	0	1	0	0	0	10019	623	22	3	511	3	MUC7	4	71346966	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	426799	71346966	119807310	665	6217											
GC	2638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	72622606	72622606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtggataaattgtcaCagagttttactgtgtgttca	9	5	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:72622606C>T	ENST00000273951.8	-	8	1200	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	GC_ENST00000513476.1_Missense_Mutation_p.C286Y|GC_ENST00000504199.1_Missense_Mutation_p.C305Y|GC_ENST00000503472.1_5'UTR|RNA5SP163_ENST00000410304.1_RNA	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	286	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TAAATTGTCACAGAGTTTTAC	0.363																																					p.C305Y		.											.	GC-93	0			c.G914A						.						60	61	61					4																	72622606		2203	4300	6503	SO:0001583	missense	2638	exon9			TTGTCACAGAGTT	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.857G>A	4.37:g.72622606C>T	ENSP00000273951:p.Cys286Tyr	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	34	16	NM_001204307	0	0	0	0	0	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611648	0.46631	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.99901	-7.65;-7.65;-7.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96415	0.9307	10	0.87932	D	0	.	17.5711	0.87934	0.0:1.0:0.0:0.0	.	305;286	D6RAK8;D6RF35	.;.	Y	286;305;286	ENSP00000273951:C286Y;ENSP00000421725:C305Y;ENSP00000426683:C286Y	ENSP00000273951:C286Y	C	-	2	0	GC	72841470	0.996000	0.38824	0.997000	0.53966	0.087000	0.18053	4.359000	0.59449	2.767000	0.95098	0.655000	0.94253	TGT	.		0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			T	72622606	C	T	72622606	3	4	31	1	0	0	0	0	1	0	0	0	6307	478	17	3	587	3	GC	4	72622606	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1275640	72622606	118531670	666	6218											
CCDC158	339965	hgsc.bcm.edu;bcgsc.ca	37	chr4	77244563	77244563	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattggcggagactgtgaatCtattagaaaattgcttagat	10	4	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:77244563C>A	ENST00000388914.3	-	23	3310		c.e23-1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158									p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GACTGTGAATCTATTAGAAAA	0.323																																					.		.											.	CCDC158-96	1	Unknown(1)	large_intestine(1)	c.3158-1G>T						.						188	165	172					4																	77244563		1798	4073	5871	SO:0001630	splice_region_variant	339965	exon24			GTGAATCTATTAG	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3158-1G>T	4.37:g.77244563C>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	40	9	NM_001042784	0	0	0	0	0	Q8IYQ1|Q8N7D4|Q8N7E3	Splice_Site	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702267	0.68501	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4725	0.67526	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC158	77463587	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.552000	0.53705	2.878000	0.98634	0.650000	0.86243	.	.		0.323	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Intron	A	77244563	C	A	77244563	5	1	31	1	0	0	0	0	0	0	1	0	2797	927	32	3	192	3	CCDC158	4	77244563	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4621957	77244563	113909713	667	6219											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	31	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	573639	77818202	113336074	668	6220											
CNOT6L	246175	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	78641630	78641630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgacaagaggcaggagTggagggtggagttcaagttg	17	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:78641630T>C	ENST00000504123.1	-	12	1753	c.1623A>G	c.(1621-1623)ccA>ccG	p.P541P	CNOT6L_ENST00000264903.4_Silent_p.P541P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	541	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GAGGCAGGAGTGGAGGGTGGA	0.512																																					p.P541P		.											.	CNOT6L-67	0			c.A1623G						.						121	120	120					4																	78641630		1925	4124	6049	SO:0001819	synonymous_variant	246175	exon12			CAGGAGTGGAGGG	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1623A>G	4.37:g.78641630T>C		Somatic	816	1		WXS	Illumina GAIIx	Phase_I	754	181	NM_144571	0	0	0	0	0	Q9UF92	Silent	SNP	ENST00000504123.1	37																																																																																				.		0.512	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			C	78641630	T	C	78641630	2	2	31	1	0	0	0	0	0	0	0	1	3630	1683	59	4		4	CNOT6L	4	78641630	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	823428	78641630	112512646	669	6221											
FGF5	2250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	81207738	81207738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaaaagaaaaagccacCtagccctatcaagccaaaga	6	12	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:81207738C>A	ENST00000312465.7	+	3	945	c.719C>A	c.(718-720)cCt>cAt	p.P240H	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	240					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAAAAGCCACCTAGCCCTATC	0.438																																					p.P240H		.											.	FGF5-1135	0			c.C719A						.						73	72	72					4																	81207738		2203	4300	6503	SO:0001583	missense	2250	exon3			AGCCACCTAGCCC	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.719C>A	4.37:g.81207738C>A	ENSP00000311697:p.Pro240His	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	102	20	NM_004464	0	0	0	0	0	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.146312	0.37923	.	.	ENSG00000138675	ENST00000312465	T	0.76968	-1.06	5.6	3.88	0.44766	.	0.387744	0.31233	N	0.008011	T	0.79197	0.4405	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.79222	-0.1892	10	0.87932	D	0	.	9.9775	0.41793	0.0:0.6676:0.2639:0.0684	.	240	P12034	FGF5_HUMAN	H	240	ENSP00000311697:P240H	ENSP00000311697:P240H	P	+	2	0	FGF5	81426762	0.272000	0.24172	0.339000	0.25562	0.129000	0.20672	1.979000	0.40608	0.736000	0.32559	-0.121000	0.15023	CCT	.		0.438	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			A	81207738	C	A	81207738	3	1	31	1	0	0	0	0	1	0	0	0	5877	681	24	3	729	3	FGF5	4	81207738	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2566108	81207738	109946538	670	6222											
PRKG2	5593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	82090866	82090866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctagcttgggctgtcctccTcattatattctggaatacct	7	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:82090866T>A	ENST00000395578.1	-	5	915	c.799A>T	c.(799-801)Agg>Tgg	p.R267W	RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000418486.2_Missense_Mutation_p.R267W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R267W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	267					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCTGTCCTCCTCATTATATTC	0.368																																					p.R267W		.											.	PRKG2-524	0			c.A799T						.						180	164	170					4																	82090866		2203	4299	6502	SO:0001583	missense	5593	exon4			TCCTCCTCATTAT	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.799A>T	4.37:g.82090866T>A	ENSP00000378945:p.Arg267Trp	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	52	12	NM_006259	0	0	0	0	0	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224335	0.79576	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.93189	-3.18;-3.18;-3.18	6.07	3.49	0.39957	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.198819	0.50627	D	0.000117	D	0.96337	0.8805	M	0.86502	2.82	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.65140	0.932;0.932	D	0.96230	0.9167	10	0.59425	D	0.04	-28.0176	12.5172	0.56038	0.0:0.0:0.263:0.737	.	267;267	E7EPE6;Q13237	.;KGP2_HUMAN	W	267	ENSP00000378945:R267W;ENSP00000264399:R267W;ENSP00000389038:R267W	ENSP00000264399:R267W	R	-	1	2	PRKG2	82309890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.526000	0.53509	1.093000	0.41377	0.533000	0.62120	AGG	.		0.368	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82090866	T	A	82090866	3	1	31	1	0	0	0	0	1	0	0	0	12565	1550	54	5	1549	5	PRKG2	4	82090866	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	883128	82090866	109063410	671	6223											
PRKG2	5593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	82125944	82125944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcctccctgcatatgCaccacatcctgcagcttgtt	8	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:82125944C>A	ENST00000395578.1	-	2	374	c.258G>T	c.(256-258)gtG>gtT	p.V86V	PRKG2_ENST00000418486.2_Silent_p.V86V|PRKG2_ENST00000264399.1_Silent_p.V86V			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	86					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCTGCATATGCACCACATCCT	0.567																																					p.V86V		.											.	PRKG2-524	0			c.G258T						.						112	115	114					4																	82125944		2203	4300	6503	SO:0001819	synonymous_variant	5593	exon1			CATATGCACCACA	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.258G>T	4.37:g.82125944C>A		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	137	55	NM_006259	0	0	0	0	0	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																			.		0.567	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82125944	C	A	82125944	2	1	31	1	0	0	0	0	0	0	0	1	12565	697	25	3		3	PRKG2	4	82125944	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35078	82125944	109028332	672	6224											
SEC31A	22872	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	83785613	83785613	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgactgcacagcctgctGaagttggtctgatcggctga	13	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:83785613G>A	ENST00000395310.2	-	11	1518	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	446	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGCCTGCTGAAGTTGGTCT	0.438																																					p.Q446X		.											.	SEC31A-268	0			c.C1336T						.						134	130	131					4																	83785613		2203	4300	6503	SO:0001587	stop_gained	22872	exon11			CCTGCTGAAGTTG	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1336C>T	4.37:g.83785613G>A	ENSP00000378721:p.Gln446*	Somatic	109	2		WXS	Illumina GAIIx	Phase_I	121	59	NM_001077206	0	0	0	0	0	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.434647|7.434647	0.98282|0.98282	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75975	.|0.3923	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74825	.|-0.3533	.|3	0.48119|.	T|.	0.1|.	-9.3051|-9.3051	19.1353|19.1353	0.93426|0.93426	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	446;446;446;441;446;446;446;446;446;446;446;446;446;218;446;446;47|88	.|.	ENSP00000264405:Q218X|.	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	84004637|84004637	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.432000|0.432000	0.31715|0.31715	9.847000|9.847000	0.99503|0.99503	2.507000|2.507000	0.84556|0.84556	0.650000|0.650000	0.86243|0.86243	CAG|TCA	.		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		A	83785613	G	A	83785613	4	1	31	1	0	0	0	0	0	1	0	0	14043	1299	45	3	2394	3	SEC31A	4	83785613	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1659669	83785613	107368663	673	6225											
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	85626662	85626662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggattagtaagatccacCtcctaaaatacaaaatgtaa	6	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:85626662C>A	ENST00000295888.4	-	54	8627	c.8220G>T	c.(8218-8220)gaG>gaT	p.E2740D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2723D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2740	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				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)		TAAGATCCACCTCCTAAAATA	0.378																																					p.E2740D		.											.	WDFY3-93	0			c.G8220T						.						143	128	133					4																	85626662		2203	4300	6503	SO:0001583	missense	23001	exon54			ATCCACCTCCTAA	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.8220G>T	4.37:g.85626662C>A	ENSP00000295888:p.Glu2740Asp	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	103	40	NM_014991	0	0	0	0	0	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709031	0.30322	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.80738	-1.41;-1.41;-1.41	5.64	0.932	0.19466	BEACH domain (4);	0.108145	0.64402	D	0.000002	T	0.72220	0.3433	L	0.45228	1.405	0.58432	D	0.999999	B	0.26363	0.147	B	0.30105	0.111	T	0.64922	-0.6293	10	0.44086	T	0.13	.	10.6851	0.45837	0.0:0.4571:0.0:0.5429	.	2740	Q8IZQ1	WDFY3_HUMAN	D	2723;2740;343	ENSP00000318466:E2723D;ENSP00000295888:E2740D;ENSP00000424987:E343D	ENSP00000295888:E2740D	E	-	3	2	WDFY3	85845686	0.982000	0.34865	0.983000	0.44433	0.620000	0.37586	0.185000	0.16958	0.179000	0.19938	-0.145000	0.13849	GAG	.		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85626662	C	A	85626662	3	1	31	1	0	0	0	0	1	0	0	0	17319	680	24	3	2420	3	WDFY3	4	85626662	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1841049	85626662	105527614	674	6226											
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	85722990	85722991	+	Frame_Shift_Ins	INS	-	-	A													agggattgtaaaatatttgcINScacggcaagttgaagatcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:85722990_85722991insA	ENST00000295888.4	-	17	3041_3042	c.2634_2635insT	c.(2632-2637)gtggcafs	p.A879fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.A879fs|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	879					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)		AAAATATTTGCCACGGCAAGTT	0.436																																					p.A879fs		.											.	WDFY3-93	0			c.2635_2636insT						.																																			SO:0001589	frameshift_variant	23001	exon17			TATTTGCCACGGC	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.2634_2635insT	4.37:g.85722990_85722991insA	ENSP00000295888:p.Ala879fs	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	114	26	NM_014991	0	0	0	0	0	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	CCDS3609.1																																																																																			.		0.436	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85722991	-	A	85722990	7	5	31	1	0	1	1	0	0	0	0	0	17319	739	26	0	8153	0	WDFY3	4	85722990	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	96328	85722990	105431286	675	6227											
SLC10A6	345274	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87744863	87744863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcacatgaagtgatgtggCcaactggctcgagagccctg	12	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:87744863C>A	ENST00000273905.6	-	6	1259	c.1112G>T	c.(1111-1113)gGc>gTc	p.G371V	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	371					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGTGATGTGGCCAACTGGCTC	0.537																																					p.G371V		.											.	SLC10A6-22	0			c.G1112T						.						102	86	92					4																	87744863		2203	4300	6503	SO:0001583	missense	345274	exon6			ATGTGGCCAACTG	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1112G>T	4.37:g.87744863C>A	ENSP00000273905:p.Gly371Val	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	124	27	NM_197965	0	0	0	0	0	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302289	0.23736	.	.	ENSG00000145283	ENST00000273905	T	0.07800	3.16	4.19	0.112	0.14623	.	2.656580	0.01482	N	0.016715	T	0.06508	0.0167	N	0.22421	0.69	0.09310	N	1	B	0.34015	0.435	B	0.27170	0.077	T	0.33085	-0.9882	10	0.66056	D	0.02	-0.5819	6.0859	0.19966	0.0:0.4745:0.0:0.5255	.	371	Q3KNW5	SOAT_HUMAN	V	371	ENSP00000273905:G371V	ENSP00000273905:G371V	G	-	2	0	SLC10A6	87963887	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.191000	0.09601	0.074000	0.16767	-0.236000	0.12185	GGC	.		0.537	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		A	87744863	C	A	87744863	3	1	31	1	0	0	0	0	1	0	0	0	14423	739	26	3	25	3	SLC10A6	4	87744863	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2021873	87744863	103409413	676	6228											
SLC10A6	345274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87769948	87769948	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttagagatggtgcccccCgggcagcagcccatgatgag	14	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:87769948C>A	ENST00000273905.6	-	1	468	c.321G>T	c.(319-321)ccG>ccT	p.P107P	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	107					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGGTGCCCCCCGGGCAGCAGC	0.507																																					p.P107P		.											.	SLC10A6-22	0			c.G321T						.						68	73	71					4																	87769948		2203	4300	6503	SO:0001819	synonymous_variant	345274	exon1			GCCCCCCGGGCAG	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.321G>T	4.37:g.87769948C>A		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	176	82	NM_197965	0	0	0	0	0	Q70EX7	Silent	SNP	ENST00000273905.6	37	CCDS3614.1																																																																																			.		0.507	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		A	87769948	C	A	87769948	2	1	31	1	0	0	0	0	0	0	0	1	14423	639	23	2		2	SLC10A6	4	87769948	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25085	87769948	103384328	677	6229											
HERC3	8916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	89607931	89607931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggaggatgtggaggAgactttctgcctcaacttca	13	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:89607931A>C	ENST00000402738.1	+	22	2791	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	HERC3_ENST00000543130.1_Missense_Mutation_p.E295A|RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000264345.3_Missense_Mutation_p.E851A	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	851					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GATGTGGAGGAGACTTTCTGC	0.418																																					p.E851A		.											.	HERC3-660	0			c.A2552C						.						121	110	114					4																	89607931		2203	4300	6503	SO:0001583	missense	8916	exon22			TGGAGGAGACTTT	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.2552A>C	4.37:g.89607931A>C	ENSP00000385684:p.Glu851Ala	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	112	34	NM_014606	0	0	0	0	0	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171908	0.78452	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.98	4.98	0.66077	HECT (4);	0.219864	0.46442	D	0.000300	T	0.70369	0.3216	M	0.70108	2.13	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.74210	-0.3739	10	0.66056	D	0.02	.	14.8428	0.70237	1.0:0.0:0.0:0.0	.	851	Q15034	HERC3_HUMAN	A	851;851;295;244	ENSP00000385684:E851A;ENSP00000264345:E851A;ENSP00000441703:E295A;ENSP00000421021:E244A	ENSP00000264345:E851A	E	+	2	0	HERC3	89826954	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.050000	0.76620	2.086000	0.62901	0.533000	0.62120	GAG	.		0.418	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		C	89607931	A	C	89607931	3	2	31	1	0	0	0	0	1	0	0	0	7086	304	11	5	2630	5	HERC3	4	89607931	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1837983	89607931	101546345	678	6230											
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	90857026	90857026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggcctcaataagacaaTgactattataaataatgcta	6	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:90857026T>G	ENST00000394980.1	+	7	2514	c.2195T>G	c.(2194-2196)aTg>aGg	p.M732R	MMRN1_ENST00000508372.1_Missense_Mutation_p.M474R|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.M732R			Q13201	MMRN1_HUMAN	multimerin 1	732					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATAAGACAATGACTATTATA	0.323																																					p.M732R		.											.	MMRN1-94	0			c.T2195G						.						66	68	67					4																	90857026		2203	4298	6501	SO:0001583	missense	22915	exon6			AGACAATGACTAT	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.2195T>G	4.37:g.90857026T>G	ENSP00000378431:p.Met732Arg	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	130	35	NM_007351	0	0	0	0	0	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097514	0.37048	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69926	-0.1;-0.1;-0.44	5.2	5.2	0.72013	.	0.178527	0.49916	D	0.000127	T	0.66944	0.2841	L	0.55481	1.735	0.80722	D	1	P	0.49961	0.93	P	0.45037	0.467	T	0.72472	-0.4283	10	0.72032	D	0.01	.	15.7803	0.78255	0.0:0.0:0.0:1.0	.	732	Q13201	MMRN1_HUMAN	R	732;732;474	ENSP00000378431:M732R;ENSP00000264790:M732R;ENSP00000426461:M474R	ENSP00000264790:M732R	M	+	2	0	MMRN1	91076049	1.000000	0.71417	0.955000	0.39395	0.794000	0.44872	3.605000	0.54088	2.263000	0.75096	0.533000	0.62120	ATG	.		0.323	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		G	90857026	T	G	90857026	3	3	31	1	0	0	0	0	1	0	0	0	9708	1464	51	5	2217	5	MMRN1	4	90857026	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1249095	90857026	100297250	679	6231											
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	90857213	90857213	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttggtcaatgacaatcaGagatataactttgttttgca	7	6	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:90857213G>T	ENST00000394980.1	+	7	2701	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	MMRN1_ENST00000508372.1_Missense_Mutation_p.Q536H|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q794H			Q13201	MMRN1_HUMAN	multimerin 1	794					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGACAATCAGAGATATAACT	0.373																																					p.Q794H		.											.	MMRN1-94	0			c.G2382T						.						52	52	52					4																	90857213		2203	4298	6501	SO:0001583	missense	22915	exon6			CAATCAGAGATAT	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.2382G>T	4.37:g.90857213G>T	ENSP00000378431:p.Gln794His	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	50	18	NM_007351	0	0	0	0	0	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202703	0.22121	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66460	0.13;0.13;-0.21	4.97	3.24	0.37175	.	0.890676	0.09755	N	0.760042	T	0.58750	0.2144	L	0.56769	1.78	0.80722	D	1	B	0.28760	0.221	B	0.22386	0.039	T	0.46965	-0.9153	10	0.25106	T	0.35	.	7.7764	0.29039	0.1499:0.1349:0.7151:0.0	.	794	Q13201	MMRN1_HUMAN	H	794;794;536	ENSP00000378431:Q794H;ENSP00000264790:Q794H;ENSP00000426461:Q536H	ENSP00000264790:Q794H	Q	+	3	2	MMRN1	91076236	0.989000	0.36119	0.687000	0.30102	0.370000	0.29829	1.129000	0.31381	0.765000	0.33221	0.650000	0.86243	CAG	.		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		T	90857213	G	T	90857213	3	4	31	1	0	0	0	0	1	0	0	0	9708	933	33	3	2404	3	MMRN1	4	90857213	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	187	90857213	100297063	680	6232											
ATOH1	474	hgsc.bcm.edu;bcgsc.ca	37	chr4	94750174	94750174	+	Frame_Shift_Del	DEL	C	C	-													atcatctcccgcaaccgccgCcgccgccgcagccacctgca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:94750174delC	ENST00000306011.3	+	1	133	c.97delC	c.(97-99)ccgfs	p.P35fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACCGCCGCCGCCGCCGCA	0.667																																					p.P33fs		.											.	ATOH1-90	0			c.97delC						.						22	25	24					4																	94750174		2180	4281	6461	SO:0001589	frameshift_variant	474	exon1			CCGCCGCCGCCGC	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.97delC	4.37:g.94750174delC	ENSP00000302216:p.Pro35fs	Somatic	300	1		WXS	Illumina GAIIx	Phase_I	427	110	NM_005172	0	0	0	0	0	Q14CT9	Frame_Shift_Del	DEL	ENST00000306011.3	37	CCDS3638.1																																																																																			.		0.667	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		-	94750174	C	-	94750174	7	5	31	1	0	1	0	1	0	0	0	0	1113	739	26	0	99	0	ATOH1	4	94750174	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	3892961	94750174	96404102	681	6233											
PDLIM5	10611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	95497186	95497186	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagtaaacagcaaaatggGtaggtggctaaggtgctttc	13	6	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:95497186G>T	ENST00000317968.4	+	5	846		c.e5+1		PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Splice_Site|PDLIM5_ENST00000542407.1_Splice_Site|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Splice_Site|PDLIM5_ENST00000514743.1_Splice_Site|PDLIM5_ENST00000437932.1_Splice_Site|PDLIM5_ENST00000380180.3_Splice_Site	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGCAAAATGGGTAGGTGGCTA	0.483																																					.		.											.	PDLIM5-117	0			c.710+1G>T						.						48	51	50					4																	95497186		2203	4300	6503	SO:0001630	splice_region_variant	10611	exon5			AAATGGGTAGGTG	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.710+1G>T	4.37:g.95497186G>T		Somatic	179	0		WXS	Illumina GAIIx	Phase_I	172	59	NM_006457	0	0	0	0	0	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Splice_Site	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190084	0.78789	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000450793;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743;ENST00000513341	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDLIM5	95716209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.254000	0.89844	2.532000	0.85374	0.650000	0.86243	.	.		0.483	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		Intron	T	95497186	G	T	95497186	5	4	31	1	0	0	0	0	0	0	1	0	11722	1275	44	3	725	3	PDLIM5	4	95497186	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	747012	95497186	95657090	682	6234											
BMPR1B	658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	96075737	96075737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactcatgacagaatgctgGgctcacaatcctgcatcaag	8	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:96075737G>T	ENST00000515059.1	+	13	1705	c.1422G>T	c.(1420-1422)tgG>tgT	p.W474C	BMPR1B_ENST00000394931.1_Missense_Mutation_p.W474C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.W504C|BMPR1B_ENST00000264568.4_Missense_Mutation_p.W474C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|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 receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAGAATGCTGGGCTCACAATC	0.448																																					p.W504C		.											.	BMPR1B-1378	0			c.G1512T						.						84	85	85					4																	96075737		2203	4300	6503	SO:0001583	missense	658	exon11			ATGCTGGGCTCAC	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1422G>T	4.37:g.96075737G>T	ENSP00000426617:p.Trp474Cys	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	168	44	NM_001256793	0	0	0	0	0	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654115	0.88056	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.84	5.84	0.93424	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	0.83695	0.5310	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85794	0.1369	10	0.87932	D	0	.	20.1294	0.97995	0.0:0.0:1.0:0.0	.	474	O00238	BMR1B_HUMAN	C	474;474;474;504;474;474	ENSP00000426617:W474C;ENSP00000425444:W474C;ENSP00000421671:W474C;ENSP00000401907:W504C;ENSP00000264568:W474C;ENSP00000378389:W474C	ENSP00000264568:W474C	W	+	3	0	BMPR1B	96294760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.460000	0.97641	2.758000	0.94735	0.591000	0.81541	TGG	.		0.448	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		T	96075737	G	T	96075737	3	4	31	1	0	0	0	0	1	0	0	0	1472	1241	43	3	1460	3	BMPR1B	4	96075737	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	578551	96075737	95078539	683	6235											
ADH1B	125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	100235236	100235236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacaggtagagcctggggtGacctgtgttttcagaaaatg	14	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:100235236G>A	ENST00000305046.8	-	6	637	c.570C>T	c.(568-570)gtC>gtT	p.V190V	ADH1B_ENST00000394887.3_Silent_p.V150V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	190				V -> VV (in Ref. 8; CAA33487). {ECO:0000305}.	ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGCCTGGGGTGACCTGTGTTT	0.473																																					p.V190V		.											.	ADH1B-136	0			c.C570T						.						90	98	95					4																	100235236		2203	4300	6503	SO:0001819	synonymous_variant	125	exon6			TGGGGTGACCTGT	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.570C>T	4.37:g.100235236G>A		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	155	72	NM_000668	0	0	0	0	0	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			.		0.473	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		A	100235236	G	A	100235236	2	1	31	1	0	0	0	0	0	0	0	1	308	1277	45	3		3	ADH1B	4	100235236	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4159499	100235236	90919040	684	6236											
ADH1B	125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	100237112	100237112	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccacagccaatgaggcaGactttctccaggggcgaggc	12	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:100237112G>T	ENST00000305046.8	-	5	577	c.510C>A	c.(508-510)gtC>gtA	p.V170V	ADH1B_ENST00000394887.3_Silent_p.V130V|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	170					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAATGAGGCAGACTTTCTCCA	0.512																																					p.V170V		.											.	ADH1B-136	0			c.C510A						.						139	131	134					4																	100237112		2203	4300	6503	SO:0001819	synonymous_variant	125	exon5			GAGGCAGACTTTC	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.510C>A	4.37:g.100237112G>T		Somatic	276	0		WXS	Illumina GAIIx	Phase_I	262	72	NM_000668	0	0	0	0	0	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			.		0.512	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		T	100237112	G	T	100237112	2	4	31	1	0	0	0	0	0	0	0	1	308	929	33	3		3	ADH1B	4	100237112	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1876	100237112	90917164	685	6237											
NFKB1	4790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	103537720	103537720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgccccatgattatgGgcaggaaggacctctagaag	11	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:103537720G>T	ENST00000505458.1	+	24	3153	c.2876G>T	c.(2875-2877)gGg>gTg	p.G959V	NFKB1_ENST00000226574.4_Missense_Mutation_p.G960V|NFKB1_ENST00000394820.4_Missense_Mutation_p.G959V|NFKB1_ENST00000600343.1_Missense_Mutation_p.G779V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	959	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CATGATTATGGGCAGGAAGGA	0.498																																					p.G960V		.											.	NFKB1-912	0			c.G2879T						.						79	74	76					4																	103537720		2203	4300	6503	SO:0001583	missense	4790	exon24			ATTATGGGCAGGA	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2876G>T	4.37:g.103537720G>T	ENSP00000424790:p.Gly959Val	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	86	52	NM_003998	0	0	0	0	0	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793646	0.31685	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.44083	0.94;0.93;0.93	4.79	3.94	0.45596	.	0.502354	0.18499	N	0.139410	T	0.33177	0.0854	L	0.27053	0.805	0.54753	D	0.999989	B;B;P	0.35575	0.376;0.191;0.51	B;B;B	0.37091	0.122;0.122;0.241	T	0.24905	-1.0147	10	0.72032	D	0.01	-3.8694	12.8583	0.57899	0.0:0.0:0.8369:0.1631	.	779;959;960	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	V	960;959;959	ENSP00000226574:G960V;ENSP00000378297:G959V;ENSP00000424790:G959V	ENSP00000226574:G960V	G	+	2	0	NFKB1	103756766	1.000000	0.71417	0.896000	0.35187	0.434000	0.31775	2.413000	0.44618	1.225000	0.43566	0.563000	0.77884	GGG	.		0.498	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			T	103537720	G	T	103537720	3	4	31	1	0	0	0	0	1	0	0	0	10414	1232	43	3	2969	3	NFKB1	4	103537720	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3300608	103537720	87616556	686	6238											
MANBA	4126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	103557078	103557078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaccatagatatagaacgTgttttcattctcaaagccta	5	10	2	2	rs113843904		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:103557078T>C	ENST00000226578.4	-	15	2200	c.2101A>G	c.(2101-2103)Acg>Gcg	p.T701A	MANBA_ENST00000505239.1_Missense_Mutation_p.T644A	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	701			T -> M (in dbSNP:rs2866413). {ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ATATAGAACGTGTTTTCATTC	0.378																																					p.T701A		.											.	MANBA-91	0			c.A2101G						.						100	96	97					4																	103557078		2203	4300	6503	SO:0001583	missense	4126	exon15			AGAACGTGTTTTC		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.2101A>G	4.37:g.103557078T>C	ENSP00000226578:p.Thr701Ala	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	135	28	NM_005908	0	0	0	0	0	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	3.329	-0.136998	0.06711	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.56776	0.44;0.44	5.42	0.553	0.17235	.	0.610170	0.17652	N	0.166653	T	0.22322	0.0538	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	10	0.08837	T	0.75	-0.6633	6.7677	0.23576	0.0:0.5602:0.1113:0.3285	.	644;701	E9PFW2;O00462	.;MANBA_HUMAN	A	701;644	ENSP00000226578:T701A;ENSP00000427322:T644A	ENSP00000226578:T701A	T	-	1	0	MANBA	103776126	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.250000	0.18235	-0.206000	0.10203	-0.177000	0.13119	ACG	T|0.500;C|0.500		0.378	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			C	103557078	T	C	103557078	3	2	31	1	0	0	0	0	1	0	0	0	9257	1696	59	4	550	4	MANBA	4	103557078	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	19358	103557078	87597198	687	6239											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	104032111	104032111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgtacaatgccgctgCcacctccacaagttaagggt	9	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104032111C>A	ENST00000265148.3	-	47	7687	c.7598G>T	c.(7597-7599)gGc>gTc	p.G2533V	CENPE_ENST00000380026.3_Missense_Mutation_p.G2412V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2533	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)		AATGCCGCTGCCACCTCCACA	0.343																																					p.G2533V		.											.	CENPE-277	0			c.G7598T						.						118	126	123					4																	104032111		2203	4300	6503	SO:0001583	missense	1062	exon47			CCGCTGCCACCTC	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.7598G>T	4.37:g.104032111C>A	ENSP00000265148:p.Gly2533Val	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	49	24	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375411	0.61735	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.79845	-1.31;-1.26	4.22	4.22	0.49857	.	.	.	.	.	D	0.86977	0.6063	M	0.63843	1.955	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87951	0.2723	9	0.87932	D	0	.	11.9836	0.53133	0.0:1.0:0.0:0.0	.	2412;2533	Q02224-3;Q02224	.;CENPE_HUMAN	V	2533;2412	ENSP00000265148:G2533V;ENSP00000369365:G2412V	ENSP00000265148:G2533V	G	-	2	0	CENPE	104251560	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	3.579000	0.53900	2.181000	0.69327	0.650000	0.86243	GGC	.		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104032111	C	A	104032111	3	1	31	1	0	0	0	0	1	0	0	0	3237	739	26	3	519	3	CENPE	4	104032111	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	475033	104032111	87122165	688	6240											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	104066245	104066245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgttttctttcagttggtCtctctctatctgaagggcct	9	9	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104066245C>A	ENST00000265148.3	-	32	4908	c.4819G>T	c.(4819-4821)Gac>Tac	p.D1607Y	CENPE_ENST00000380026.3_Missense_Mutation_p.D1582Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1607					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)		TTCAGTTGGTCTCTCTCTATC	0.323																																					p.D1607Y		.											.	CENPE-277	0			c.G4819T						.						129	121	123					4																	104066245		2203	4300	6503	SO:0001583	missense	1062	exon32			GTTGGTCTCTCTC	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.4819G>T	4.37:g.104066245C>A	ENSP00000265148:p.Asp1607Tyr	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	33	13	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261872	0.39995	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72725	-0.68;-0.61	4.15	4.15	0.48705	.	.	.	.	.	T	0.80994	0.4731	M	0.68317	2.08	0.35644	D	0.811228	D;D	0.76494	0.998;0.999	D;D	0.67103	0.935;0.949	D	0.86683	0.1918	9	0.87932	D	0	.	13.4894	0.61386	0.0:1.0:0.0:0.0	.	1582;1607	Q02224-3;Q02224	.;CENPE_HUMAN	Y	1607;1607;1582	ENSP00000265148:D1607Y;ENSP00000369365:D1582Y	ENSP00000265148:D1607Y	D	-	1	0	CENPE	104285694	0.882000	0.30256	0.988000	0.46212	0.310000	0.27922	1.517000	0.35867	2.141000	0.66446	0.551000	0.68910	GAC	.		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104066245	C	A	104066245	3	1	31	1	0	0	0	0	1	0	0	0	3237	913	32	3	3358	3	CENPE	4	104066245	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	34134	104066245	87088031	689	6241											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	104080288	104080288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatacttttgctcaaagtccAtatgaagggttttgaaattt	7	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104080288A>T	ENST00000265148.3	-	22	2569	c.2480T>A	c.(2479-2481)aTg>aAg	p.M827K	CENPE_ENST00000380026.3_Missense_Mutation_p.M802K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	827					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)		CTCAAAGTCCATATGAAGGGT	0.338																																					p.M827K		.											.	CENPE-277	0			c.T2480A						.						124	125	125					4																	104080288		2203	4300	6503	SO:0001583	missense	1062	exon22			AAGTCCATATGAA	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.2480T>A	4.37:g.104080288A>T	ENSP00000265148:p.Met827Lys	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	61	30	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.895137	0.00522	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.76968	-1.06;-1.06;-1.06	5.03	-5.8	0.02347	.	.	.	.	.	T	0.44603	0.1301	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	0.44298	-0.9337	9	0.07482	T	0.82	.	1.0298	0.01536	0.1939:0.136:0.2324:0.4377	.	802;827	Q02224-3;Q02224	.;CENPE_HUMAN	K	827;827;802;827	ENSP00000265148:M827K;ENSP00000369365:M802K;ENSP00000423981:M827K	ENSP00000265148:M827K	M	-	2	0	CENPE	104299737	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.213000	0.09305	-0.576000	0.05974	-0.309000	0.09137	ATG	.		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104080288	A	T	104080288	3	4	31	1	0	0	0	0	1	0	0	0	3237	217	8	5	5737	5	CENPE	4	104080288	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	14043	104080288	87073988	690	6242											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	104102532	104102532	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagatccattatttcttttcTataccttttcaggagagctt	5	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104102532T>A	ENST00000265148.3	-	12	1134	c.1045A>T	c.(1045-1047)Aga>Tga	p.R349*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R349*|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	349					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)		ATTTCTTTTCTATACCTTTTC	0.308																																					p.R349X		.											.	CENPE-277	0			c.A1045T						.						64	64	64					4																	104102532		2200	4293	6493	SO:0001587	stop_gained	1062	exon12			CTTTTCTATACCT	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.1045A>T	4.37:g.104102532T>A	ENSP00000265148:p.Arg349*	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	193	58	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	37	6.344939	0.97494	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	4.83	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8916	0.46998	0.0:0.0:0.2582:0.7418	.	.	.	.	X	349	.	ENSP00000265148:R349X	R	-	1	2	CENPE	104321981	0.995000	0.38212	0.956000	0.39512	0.976000	0.68499	2.670000	0.46833	1.936000	0.56123	0.533000	0.62120	AGA	.		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104102532	T	A	104102532	4	1	31	1	0	0	0	0	0	1	0	0	3237	1530	53	5	7212	5	CENPE	4	104102532	Nonsense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	22244	104102532	87051744	691	6243											
GSTCD	79807	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	106640417	106640417	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggctgatggagttggGcctccccttactaagggaaa	13	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:106640417G>T	ENST00000515279.1	+	3	847	c.627G>T	c.(625-627)ggG>ggT	p.G209G	GSTCD_ENST00000360505.5_Silent_p.G209G|GSTCD_ENST00000394730.3_Silent_p.G122G|GSTCD_ENST00000394728.3_Silent_p.G209G|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Silent_p.G122G			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	209	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATGGAGTTGGGCCTCCCCTTA	0.468																																					p.G209G		.											.	GSTCD-92	0			c.G627T						.						105	112	110					4																	106640417		2203	4300	6503	SO:0001819	synonymous_variant	79807	exon3			AGTTGGGCCTCCC	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.627G>T	4.37:g.106640417G>T		Somatic	114	2		WXS	Illumina GAIIx	Phase_I	94	38	NM_001031720	0	0	0	0	0	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP	ENST00000515279.1	37	CCDS43257.1																																																																																			.		0.468	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		T	106640417	G	T	106640417	2	4	31	1	0	0	0	0	0	0	0	1	6862	1190	42	3		3	GSTCD	4	106640417	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2537885	106640417	84513859	692	6244											
DKK2	27123	ucsc.edu;bcgsc.ca	37	chr4	107845222	107845222	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctggaaaatttccagcccAtgagaacccttcttgcgttg	9	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:107845222A>T	ENST00000285311.3	-	4	1374	c.669T>A	c.(667-669)caT>caA	p.H223Q	DKK2_ENST00000513208.1_Missense_Mutation_p.H123Q|DKK2_ENST00000510463.1_Missense_Mutation_p.H177Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	223	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTCCAGCCCATGAGAACCCT	0.502																																					p.H223Q		.											.	DKK2-661	0			c.T669A						.						165	151	156					4																	107845222		2203	4300	6503	SO:0001583	missense	27123	exon4			CAGCCCATGAGAA	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.669T>A	4.37:g.107845222A>T	ENSP00000285311:p.His223Gln	Somatic	323	2		WXS	Illumina GAIIx	Phase_I	250	54	NM_014421	0	0	0	0	0	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276615	0.59758	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.46063	0.88;0.95;0.93	5.64	-10.1	0.00402	.	0.046820	0.85682	D	0.000000	T	0.28499	0.0705	L	0.37697	1.125	0.44352	D	0.997245	B	0.30482	0.281	B	0.27076	0.076	T	0.14839	-1.0458	10	0.52906	T	0.07	-14.7903	20.4311	0.99082	0.3628:0.0:0.6372:0.0	.	223	Q9UBU2	DKK2_HUMAN	Q	223;123;177	ENSP00000285311:H223Q;ENSP00000421255:H123Q;ENSP00000423797:H177Q	ENSP00000285311:H223Q	H	-	3	2	DKK2	108064671	0.047000	0.20315	0.312000	0.25196	0.992000	0.81027	-0.615000	0.05597	-2.176000	0.00770	-0.386000	0.06593	CAT	.		0.502	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			T	107845222	A	T	107845222	3	4	31	1	0	0	0	0	1	0	0	0	4559	214	8	5	114	5	DKK2	4	107845222	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1204805	107845222	83309054	693	6245											
DKK2	27123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	107956686	107956686	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgtgagctctccaccatCagcaccgcggccagtaggag	11	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:107956686C>A	ENST00000285311.3	-	1	768	c.63G>T	c.(61-63)ctG>ctT	p.L21L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	21					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTCCACCATCAGCACCGCGG	0.647																																					p.L21L		.											.	DKK2-661	0			c.G63T						.						79	80	80					4																	107956686		2203	4300	6503	SO:0001819	synonymous_variant	27123	exon1			CACCATCAGCACC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.63G>T	4.37:g.107956686C>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	121	47	NM_014421	0	0	0	0	0	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																			.		0.647	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			A	107956686	C	A	107956686	2	1	31	1	0	0	0	0	0	0	0	1	4559	813	29	3		3	DKK2	4	107956686	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	111464	107956686	83197590	694	6246											
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	111539439	111539439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacatacggaggagtcggcgGcgcgtaaggacaggcaggcg	18	9	0	0	rs376861814		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:111539439G>C	ENST00000354925.2	-	7	2501	c.796C>G	c.(796-798)Ccg>Gcg	p.P266A	PITX2_ENST00000306732.3_Missense_Mutation_p.P273A|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.P220A|PITX2_ENST00000394598.2_Missense_Mutation_p.P266A|RP11-380D23.2_ENST00000503456.1_lincRNA	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	266					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGAGTCGGCGGCGCGTAAGGA	0.597																																					p.P273A		.											.	PITX2-650	0			c.C817G						.						49	51	50					4																	111539439		2203	4300	6503	SO:0001583	missense	5308	exon3			TCGGCGGCGCGTA	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.796C>G	4.37:g.111539439G>C	ENSP00000347004:p.Pro266Ala	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	257	151	NM_000325	0	0	0	0	0	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464887	0.43839	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.92299	-2.77;-2.89;-3.01;-2.89;-3.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	L	0.42744	1.35	0.80722	D	1	B;D;P;P	0.67145	0.248;0.996;0.638;0.516	B;D;B;B	0.73708	0.146;0.981;0.206;0.281	D	0.90836	0.4720	10	0.15499	T	0.54	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	220;220;266;273	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	A	273;266;220;266;266	ENSP00000304169:P273A;ENSP00000378097:P266A;ENSP00000347192:P220A;ENSP00000347004:P266A;ENSP00000421454:P266A	ENSP00000304169:P273A	P	-	1	0	PITX2	111758888	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.903000	0.87398	2.689000	0.91719	0.655000	0.94253	CCG	.		0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			C	111539439	G	C	111539439	3	2	31	1	0	0	0	0	1	0	0	0	11994	1203	42	3	161	3	PITX2	4	111539439	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3582753	111539439	79614837	695	6247											
C4orf32	132720	hgsc.bcm.edu	37	chr4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcggcagggaccgGgtgggatcccggggcgagcc	23	11	0	0	rs10002700	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1	1	5008	,	,		5782	1		0.996	False		,,,				2504	1				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3	5	4		95	2	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_152400	0	0	0	0	0	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		A	113066831	G	A	113066831	3	1	31	1	0	0	0	0	1	0	0	0	2269	1232	43	3	97	3	C4orf32	4	113066831	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1527392	113066831	78087445	696	6248											
ANK2	287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	114199709	114199709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcccctcatgccactGccaaggtgaggaccacagaa	10	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114199709G>T	ENST00000357077.4	+	17	1929	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	ANK2_ENST00000506722.1_Missense_Mutation_p.A605S|ANK2_ENST00000264366.6_Missense_Mutation_p.A626S|ANK2_ENST00000394537.3_Missense_Mutation_p.A626S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	626					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)		TCATGCCACTGCCAAGGTGAG	0.468											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A626S		.											.	ANK2-583	0			c.G1876T						.						86	74	78					4																	114199709		2203	4300	6503	SO:0001583	missense	287	exon17			GCCACTGCCAAGG	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.1876G>T	4.37:g.114199709G>T	ENSP00000349588:p.Ala626Ser	Somatic	118	1	1456	WXS	Illumina GAIIx	Phase_I	187	116	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165637	0.94768	.	.	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000059	T	0.25232	0.0613	N	0.08118	0	0.80722	D	1	D;D;D;D;B	0.89917	0.983;0.984;0.979;1.0;0.096	D;D;D;D;P	0.91635	0.974;0.922;0.978;0.999;0.529	T	0.39742	-0.9599	10	0.66056	D	0.02	.	18.7334	0.91744	0.0:0.0:1.0:0.0	.	626;626;626;605;605	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	605;605;641;626;626;626;605	ENSP00000423799:A605S;ENSP00000421067:A605S;ENSP00000424722:A641S;ENSP00000378044:A626S;ENSP00000349588:A626S;ENSP00000264366:A626S	ENSP00000264366:A626S	A	+	1	0	ANK2	114419158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.470000	0.83445	0.650000	0.86243	GCC	.		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114199709	G	T	114199709	3	4	31	1	0	0	0	0	1	0	0	0	621	1319	46	3	1967	3	ANK2	4	114199709	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1132878	114199709	76954567	697	6249											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	114279073	114279073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaagtgagcaaaaccCatttctgtttcaggaaggaa	8	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114279073C>G	ENST00000357077.4	+	38	9352	c.9299C>G	c.(9298-9300)cCa>cGa	p.P3100R	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3067R|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3100					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)		GAGCAAAACCCATTTCTGTTT	0.453																																					p.P3100R		.											.	ANK2-583	0			c.C9299G						.						55	58	57					4																	114279073		2203	4300	6503	SO:0001583	missense	287	exon38			AAAACCCATTTCT	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.9299C>G	4.37:g.114279073C>G	ENSP00000349588:p.Pro3100Arg	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	110	73	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99804	-3.38;-3.41;-6.83	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000025	D	0.99757	0.9902	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97702	1.0185	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	3067;3100	Q01484;Q01484-4	ANK2_HUMAN;.	R	3100;3067;110	ENSP00000349588:P3100R;ENSP00000264366:P3067R;ENSP00000422498:P110R	ENSP00000264366:P3067R	P	+	2	0	ANK2	114498522	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	CCA	.		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114279073	C	G	114279073	3	3	31	1	0	0	0	0	1	0	0	0	621	594	21	3	9514	3	ANK2	4	114279073	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	79364	114279073	76875203	698	6250											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	114294594	114294594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtattgaagagtgacaccGagcagtcagaggtgagacaa	13	6	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114294594G>A	ENST00000357077.4	+	45	11901	c.11848G>A	c.(11848-11850)Gag>Aag	p.E3950K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1856K|ANK2_ENST00000510275.2_Missense_Mutation_p.E548K|ANK2_ENST00000264366.6_Missense_Mutation_p.E3917K|ANK2_ENST00000509550.1_Missense_Mutation_p.E1041K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1865K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3950					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)		GAGTGACACCGAGCAGTCAGA	0.418																																					p.E3950K		.											.	ANK2-583	0			c.G11848A						.						103	98	99					4																	114294594		2203	4300	6503	SO:0001583	missense	287	exon45			GACACCGAGCAGT	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.11848G>A	4.37:g.114294594G>A	ENSP00000349588:p.Glu3950Lys	Somatic	308	0		WXS	Illumina GAIIx	Phase_I	427	250	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.273188|1.273188	0.23221|0.23221	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000506344;ENST00000514167	T;T;T;T;T;D;D|.	0.96300|.	-0.31;-0.28;-0.35;-0.36;-1.06;-2.04;-3.97|.	5.76|5.76	-1.61|-1.61	0.08399|0.08399	.|.	1.467820|.	0.04745|.	N|.	0.423564|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;P;B;P;B;B|.	0.46020|.	0.031;0.324;0.117;0.519;0.226;0.871;0.005;0.037|.	B;B;B;B;B;B;B;B|.	0.29598|.	0.015;0.035;0.035;0.057;0.017;0.104;0.003;0.021|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.32370|.	T|.	0.25|.	.|.	6.7665|6.7665	0.23571|0.23571	0.2498:0.3305:0.4197:0.0|0.2498:0.3305:0.4197:0.0	.|.	1041;27;28;931;897;1865;3950;1856|.	E9PCH6;A5XEJ9;E9PB80;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.;.;.|.	K|Q	1856;931;1865;3950;3917;1856;1041;548;960|897;41;27	ENSP00000421067:E1856K;ENSP00000378044:E1865K;ENSP00000349588:E3950K;ENSP00000264366:E3917K;ENSP00000426944:E1041K;ENSP00000421023:E548K;ENSP00000422498:E960K|.	ENSP00000264366:E3917K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114514043|114514043	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.331000|0.331000	0.28603|0.28603	0.746000|0.746000	0.26275|0.26275	-0.765000|-0.765000	0.04645|0.04645	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA	.		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114294594	G	A	114294594	3	1	31	1	0	0	0	0	1	0	0	0	621	1059	37	1	12091	1	ANK2	4	114294594	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15521	114294594	76859682	699	6251											
UGT8	7368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	115544819	115544819	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctaatgttgtttatgtAggaggaatcctaaccaaacc	8	9	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:115544819A>T	ENST00000310836.6	+	2	1305	c.783A>T	c.(781-783)gtA>gtT	p.V261V	UGT8_ENST00000394511.3_Silent_p.V261V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	261					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTGTTTATGTAGGAGGAATCC	0.423																																					p.V261V		.											.	UGT8-92	0			c.A783T						.						70	73	72					4																	115544819		2203	4300	6503	SO:0001819	synonymous_variant	7368	exon1			TTATGTAGGAGGA	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.783A>T	4.37:g.115544819A>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	163	91	NM_003360	0	0	0	0	0	B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																			.		0.423	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		T	115544819	A	T	115544819	2	4	31	1	0	0	0	0	0	0	0	1	17014	407	15	5		5	UGT8	4	115544819	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1250225	115544819	75609457	700	6252											
NDST4	64579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	115773935	115773935	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taagtggtcacaagttttctCtctggaccagatgtctttgt	9	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:115773935C>A	ENST00000264363.2	-	8	2440	c.1762G>T	c.(1762-1764)Gag>Tag	p.E588*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	588	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)		CAAGTTTTCTCTCTGGACCAG	0.353																																					p.E588X		.											.	NDST4-94	0			c.G1762T						.						139	135	136					4																	115773935		2203	4300	6503	SO:0001587	stop_gained	64579	exon8			TTTTCTCTCTGGA	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.1762G>T	4.37:g.115773935C>A	ENSP00000264363:p.Glu588*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	112	69	NM_022569	0	0	0	0	0	Q2KHM8	Nonsense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	41	8.642885	0.98897	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.58	5.58	0.84498	.	0.152472	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.5672	0.95398	0.0:1.0:0.0:0.0	.	.	.	.	X	588	.	ENSP00000264363:E588X	E	-	1	0	NDST4	115993384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.616000	0.88540	0.655000	0.94253	GAG	.		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115773935	C	A	115773935	4	1	31	1	0	0	0	0	0	1	0	0	10297	922	32	3	884	3	NDST4	4	115773935	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	229116	115773935	75380341	701	6253											
SYNPO2	171024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	119978893	119978893	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgggctcatgtggaaggcAagagtataatgtcacagcca	12	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:119978893A>T	ENST00000307142.4	+	5	3786	c.3590A>T	c.(3589-3591)cAa>cTa	p.Q1197L	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTGGAAGGCAAGAGTATAAT	0.453																																					p.Q1197L		.											.	SYNPO2-92	0			c.A3590T						.						85	82	83					4																	119978893		2203	4300	6503	SO:0001583	missense	171024	exon5			GAAGGCAAGAGTA	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3590A>T	4.37:g.119978893A>T	ENSP00000306015:p.Gln1197Leu	Somatic	328	0		WXS	Illumina GAIIx	Phase_I	490	66	NM_133477	0	0	0	0	0	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299295	0.23650	.	.	ENSG00000172403	ENST00000307142	T	0.08102	3.13	5.76	-5.2	0.02823	.	0.772757	0.11053	N	0.604811	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.42327	-0.9458	9	.	.	.	-0.0133	10.0005	0.41927	0.3843:0.0:0.5154:0.1003	.	1197;1197	B9EG60;Q9UMS6-2	.;.	L	1197	ENSP00000306015:Q1197L	.	Q	+	2	0	SYNPO2	120198341	0.992000	0.36948	0.010000	0.14722	0.299000	0.27559	0.629000	0.24538	-0.802000	0.04421	-0.250000	0.11733	CAA	.		0.453	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			T	119978893	A	T	119978893	3	4	31	1	0	0	0	0	1	0	0	0	15504	130	5	5	3720	5	SYNPO2	4	119978893	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4204958	119978893	71175383	702	6254											
ANXA5	308	bcgsc.ca	37	chr4	122593694	122593694	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcactcaccctttcTcaaatgagacacacttcgtg	4	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122593694T>A	ENST00000296511.5	-	9	904	c.619A>T	c.(619-621)Aga>Tga	p.R207*	ANXA5_ENST00000501272.2_Nonsense_Mutation_p.R147*|ANXA5_ENST00000515017.1_Nonsense_Mutation_p.R107*	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	207					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TCACCCTTTCTCAAATGAGAC	0.408																																					p.R207X	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	.											.	ANXA5-91	0			c.A619T						.						79	72	75					4																	122593694		2203	4300	6503	SO:0001587	stop_gained	308	exon9			CCTTTCTCAAATG	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.619A>T	4.37:g.122593694T>A	ENSP00000296511:p.Arg207*	Somatic	34	1		WXS	Illumina GAIIx	Phase_I	59	37	NM_001154	0	0	0	0	0	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Nonsense_Mutation	SNP	ENST00000296511.5	37	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	37	6.363966	0.97507	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	.	.	.	5.88	3.42	0.39159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.363	0.32369	0.0:0.0687:0.1332:0.798	.	.	.	.	X	207;207;147;107	.	ENSP00000296511:R207X	R	-	1	2	ANXA5	122813144	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.433000	0.44793	0.464000	0.27142	0.533000	0.62120	AGA	.		0.408	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		A	122593694	T	A	122593694	4	1	31	1	0	0	0	0	0	1	0	0	721	1559	54	5	363	5	ANXA5	4	122593694	Nonsense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2614801	122593694	68560582	703	6255											
TRPC3	7222	ucsc.edu;bcgsc.ca	37	chr4	122853706	122853706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgccgccaggatgatgGgggtgatgtccggcgagaag	19	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122853706G>A	ENST00000379645.3	-	2	780	c.707C>T	c.(706-708)cCc>cTc	p.P236L	TRPC3_ENST00000264811.5_Missense_Mutation_p.P163L|TRPC3_ENST00000513531.1_Missense_Mutation_p.P163L	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	151					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGGATGATGGGGGTGATGTC	0.607																																					p.P236L		.											.	TRPC3-92	0			c.C707T						.						76	72	74					4																	122853706		2203	4300	6503	SO:0001583	missense	7222	exon2			ATGATGGGGGTGA	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.707C>T	4.37:g.122853706G>A	ENSP00000368966:p.Pro236Leu	Somatic	222	3		WXS	Illumina GAIIx	Phase_I	350	225	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271240	0.95429	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74842	-0.88;-0.88;-0.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90689	0.7079	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92712	0.6184	10	0.87932	D	0	-10.5822	19.7417	0.96234	0.0:0.0:1.0:0.0	.	163;236	E9PCJ9;Q5G1L5	.;.	L	163;236;163	ENSP00000264811:P163L;ENSP00000368966:P236L;ENSP00000426899:P163L	ENSP00000264811:P163L	P	-	2	0	TRPC3	123073156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.661000	0.90470	0.655000	0.94253	CCC	.		0.607	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122853706	G	A	122853706	3	1	31	1	0	0	0	0	1	0	0	0	16627	1232	43	3	2102	3	TRPC3	4	122853706	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	260012	122853706	68300570	704	6256											
TRPC3	7222	bcgsc.ca	37	chr4	122853981	122853981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgttctggcccatgtaGtccacgcagttgacgttcag	12	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122853981G>T	ENST00000379645.3	-	2	505	c.432C>A	c.(430-432)gaC>gaA	p.D144E	TRPC3_ENST00000264811.5_Missense_Mutation_p.D71E|TRPC3_ENST00000513531.1_Missense_Mutation_p.D71E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	59					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGCCCATGTAGTCCACGCAGT	0.637																																					p.D144E		.											.	TRPC3-92	0			c.C432A						.						62	57	59					4																	122853981		2203	4300	6503	SO:0001583	missense	7222	exon2			CATGTAGTCCACG	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.432C>A	4.37:g.122853981G>T	ENSP00000368966:p.Asp144Glu	Somatic	203	4		WXS	Illumina GAIIx	Phase_I	469	307	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272617	0.80580	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.48	5.95	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	H	0.95079	3.62	0.42100	D	0.991336	D;D	0.69078	0.997;0.989	D;D	0.73708	0.981;0.977	D	0.90266	0.4304	10	0.87932	D	0	-1.6598	9.4427	0.38679	0.2107:0.0:0.7893:0.0	.	71;144	E9PCJ9;Q5G1L5	.;.	E	71;144;71;71	ENSP00000264811:D71E;ENSP00000368966:D144E;ENSP00000426899:D71E;ENSP00000422214:D71E	ENSP00000264811:D71E	D	-	3	2	TRPC3	123073431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	1.534000	0.49203	0.655000	0.94253	GAC	.		0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		T	122853981	G	T	122853981	3	4	31	1	0	0	0	0	1	0	0	0	16627	1020	36	3	2377	3	TRPC3	4	122853981	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	275	122853981	68300295	705	6257											
KIAA1109	84162	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	123227129	123227129	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaagaaatcagtggttcttCagatagggaagctgtgctta	12	5	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:123227129C>A	ENST00000264501.4	+	57	10143	c.9770C>A	c.(9769-9771)tCa>tAa	p.S3257*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S3257*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S3257*			Q2LD37	K1109_HUMAN	KIAA1109	3257					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						AGTGGTTCTTCAGATAGGGAA	0.383																																					p.S3257X		.											.	KIAA1109-80	0			c.C9770A						.						133	129	130					4																	123227129		1838	4081	5919	SO:0001587	stop_gained	84162	exon55			GTTCTTCAGATAG	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.9770C>A	4.37:g.123227129C>A	ENSP00000264501:p.Ser3257*	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	99	61	NM_015312	0	0	0	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.888764|17.888764	0.99895|0.99895	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|.	0.54631|.	0.1870|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44651|.	-0.9314|.	3|.	.|0.08179	.|T	.|0.78	.|.	19.1448|19.1448	0.93461|0.93461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1214|3257	.|.	.|ENSP00000264501:S3257X	F|S	+|+	3|2	2|0	KIAA1109|KIAA1109	123446579|123446579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.808000|5.808000	0.69165|0.69165	2.540000|2.540000	0.85666|0.85666	0.591000|0.591000	0.81541|0.81541	TTC|TCA	.		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123227129	C	A	123227129	4	1	31	1	0	0	0	0	0	1	0	0	8235	838	29	3	9988	3	KIAA1109	4	123227129	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	373148	123227129	67927147	706	6258											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	125591276	125591276	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtgcccttcctgggcTgcaatacagagtgcagttgc	11	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:125591276T>A	ENST00000504087.1	-	4	4193	c.3156A>T	c.(3154-3156)gcA>gcT	p.A1052A	ANKRD50_ENST00000515641.1_Silent_p.A873A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1052										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTCCTGGGCTGCAATACAGA	0.488																																					p.A1052A		.											.	ANKRD50-90	0			c.A3156T						.						105	94	98					4																	125591276		2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			CTGGGCTGCAATA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3156A>T	4.37:g.125591276T>A		Somatic	348	0		WXS	Illumina GAIIx	Phase_I	498	320	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			.		0.488	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		A	125591276	T	A	125591276	2	1	31	1	0	0	0	0	0	0	0	1	677	1567	55	5		5	ANKRD50	4	125591276	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2364147	125591276	65563000	707	6259											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	125592669	125592669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaccaccttggtatgtcccTgtctagccgctagagtgagt	10	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:125592669T>G	ENST00000504087.1	-	4	2800	c.1763A>C	c.(1762-1764)cAg>cCg	p.Q588P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q409P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	588										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGTATGTCCCTGTCTAGCCGC	0.433																																					p.Q588P		.											.	ANKRD50-90	0			c.A1763C						.						84	78	80					4																	125592669		2203	4300	6503	SO:0001583	missense	57182	exon4			TGTCCCTGTCTAG	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1763A>C	4.37:g.125592669T>G	ENSP00000425658:p.Gln588Pro	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	152	13	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380606	0.24944	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.65178	-0.14;2.41	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73430	2.235	0.80722	D	1	D	0.61697	0.99	P	0.62491	0.903	T	0.77963	-0.2390	10	0.48119	T	0.1	.	15.0843	0.72138	0.0:0.0:0.0:1.0	.	588	Q9ULJ7	ANR50_HUMAN	P	588;409	ENSP00000425658:Q588P;ENSP00000425355:Q409P	ENSP00000425658:Q588P	Q	-	2	0	ANKRD50	125812119	1.000000	0.71417	0.990000	0.47175	0.069000	0.16628	7.365000	0.79537	2.148000	0.66965	0.528000	0.53228	CAG	.		0.433	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125592669	T	G	125592669	3	3	31	1	0	0	0	0	1	0	0	0	677	1580	55	5	2530	5	ANKRD50	4	125592669	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1393	125592669	65561607	708	6260											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	126370695	126370695	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaagatacagaccgttacAgaattcgagtttccgcacat	10	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:126370695A>T	ENST00000394329.3	+	9	8537	c.8524A>T	c.(8524-8526)Aga>Tga	p.R2842*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1140*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2842	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGACCGTTACAGAATTCGAGT	0.388																																					p.R2842X		.											.	FAT4-108	0			c.A8524T						.						76	76	76					4																	126370695		2203	4298	6501	SO:0001587	stop_gained	79633	exon9			CGTTACAGAATTC	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.8524A>T	4.37:g.126370695A>T	ENSP00000377862:p.Arg2842*	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	124	18	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	49	15.740002	0.99843	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.61	3.03	0.35002	.	0.000000	0.34879	U	0.003613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	13.2533	0.60064	0.6245:0.3755:0.0:0.0	.	.	.	.	X	2842;1140	.	ENSP00000335169:R1140X	R	+	1	2	FAT4	126590145	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	4.277000	0.58939	0.433000	0.26313	0.533000	0.62120	AGA	.		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126370695	A	T	126370695	4	4	31	1	0	0	0	0	0	1	0	0	5714	180	7	5	8558	5	FAT4	4	126370695	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	778026	126370695	64783581	709	6261											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126372220	126372220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagggtttccagatcaataAgaagactggacagatttatg	11	5	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:126372220A>T	ENST00000394329.3	+	9	10062	c.10049A>T	c.(10048-10050)aAg>aTg	p.K3350M	FAT4_ENST00000335110.5_Missense_Mutation_p.K1648M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3350	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATCAATAAGAAGACTGGA	0.413																																					p.K3350M		.											.	FAT4-108	0			c.A10049T						.						105	108	107					4																	126372220		2203	4300	6503	SO:0001583	missense	79633	exon9			TCAATAAGAAGAC	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.10049A>T	4.37:g.126372220A>T	ENSP00000377862:p.Lys3350Met	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	141	84	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	5.718	0.317030	0.10845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01821	4.62;4.62	5.42	1.68	0.24146	Cadherin (4);Cadherin-like (1);	0.208536	0.22801	U	0.055473	T	0.02571	0.0078	L	0.46157	1.445	0.09310	N	1	P;P;P	0.47409	0.755;0.858;0.895	B;P;P	0.48704	0.386;0.587;0.452	T	0.41716	-0.9493	10	0.62326	D	0.03	.	3.0457	0.06153	0.6148:0.1276:0.1457:0.1119	.	1648;3350;3350	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3350;1648	ENSP00000377862:K3350M;ENSP00000335169:K1648M	ENSP00000335169:K1648M	K	+	2	0	FAT4	126591670	0.999000	0.42202	0.704000	0.30370	0.007000	0.05969	1.420000	0.34804	0.906000	0.36621	-0.250000	0.11733	AAG	.		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126372220	A	T	126372220	3	4	31	1	0	0	0	0	1	0	0	0	5714	72	3	5	10083	5	FAT4	4	126372220	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1525	126372220	64782056	710	6262											
SCLT1	132320	broad.mit.edu;ucsc.edu	37	chr4	129964623	129964623	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacaagaggagctaaaaagCtaaaaaaagacaataaaaat	6	4	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:129964623C>A	ENST00000281142.5	-	4	665		c.e4-1		SCLT1_ENST00000511426.1_Splice_Site|SCLT1_ENST00000506368.1_Splice_Site|SCLT1_ENST00000503401.1_Splice_Site|SCLT1_ENST00000434680.1_Splice_Site|SCLT1_ENST00000503215.1_Splice_Site|SCLT1_ENST00000439369.2_Splice_Site	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1						cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AGCTAAAAAGCTAAAAAAAGA	0.269																																					.		.											.	SCLT1-525	0			c.162-1G>T						.						36	36	36					4																	129964623		2203	4289	6492	SO:0001630	splice_region_variant	132320	exon5			AAAAAGCTAAAAA	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.162-1G>T	4.37:g.129964623C>A		Somatic	124	2		WXS	Illumina GAIIx	Phase_I	61	11	NM_144643	0	0	0	0	0	A4QN04|Q0VAH2|Q6P2M4	Splice_Site	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827214	0.16749	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368;ENST00000511426;ENST00000503401	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3598	0.55197	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCLT1	130184073	1.000000	0.71417	0.994000	0.49952	0.057000	0.15508	3.394000	0.52551	2.272000	0.75746	0.563000	0.77884	.	.		0.269	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	Intron	A	129964623	C	A	129964623	5	1	31	1	0	0	0	0	0	0	1	0	13951	811	28	3	1977	3	SCLT1	4	129964623	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3592403	129964623	61189653	711	6263											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134071578	134071578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcctgtgtcctgcacCtggaggtctttctggagaac	11	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134071578C>A	ENST00000264360.5	+	1	1109	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	95	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)		TGTCCTGCACCTGGAGGTCTT	0.557																																					p.L95M		.											.	PCDH10-92	0			c.C283A						.						54	61	58					4																	134071578		2203	4300	6503	SO:0001583	missense	57575	exon1			CTGCACCTGGAGG	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.283C>A	4.37:g.134071578C>A	ENSP00000264360:p.Leu95Met	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	65	16	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361366	0.41801	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.42131	0.98	4.78	4.78	0.61160	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.35436	N	0.003219	T	0.39784	0.1091	L	0.60957	1.885	0.51482	D	0.999926	P;B	0.41131	0.739;0.305	B;B	0.39562	0.221;0.303	T	0.38023	-0.9680	10	0.54805	T	0.06	.	11.1379	0.48386	0.0:0.914:0.0:0.086	.	95;95	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	95	ENSP00000264360:L95M	ENSP00000264360:L95M	L	+	1	2	PCDH10	134291028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.177000	0.50871	2.467000	0.83353	0.555000	0.69702	CTG	.		0.557	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071578	C	A	134071578	3	1	31	1	0	0	0	0	1	0	0	0	11546	680	24	3	285	3	PCDH10	4	134071578	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4106955	134071578	57082698	712	6264											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134071922	134071922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggacggaggaggtggGggaggagtaggagaaggagg	26	2	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134071922G>A	ENST00000264360.5	+	1	1453	c.627G>A	c.(625-627)ggG>ggA	p.G209G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(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)		gaggaggtgggggaggagtag	0.682																																					p.G209G		.											.	PCDH10-92	0			c.G627A						.						29	30	30					4																	134071922		2203	4299	6502	SO:0001819	synonymous_variant	57575	exon1			AGGTGGGGGAGGA	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.627G>A	4.37:g.134071922G>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	77	27	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071922	G	A	134071922	2	1	31	1	0	0	0	0	0	0	0	1	11546	1219	43	3		3	PCDH10	4	134071922	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	344	134071922	57082354	713	6265											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134073851	134073851	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggacactgagcacaacccCtgcggggccatcgtcaccgg	12	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134073851C>A	ENST00000264360.5	+	1	3382	c.2556C>A	c.(2554-2556)ccC>ccA	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					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)		AGCACAACCCCTGCGGGGCCA	0.572																																					p.P852P		.											.	PCDH10-92	0			c.C2556A						.						83	78	80					4																	134073851		2203	4300	6503	SO:0001819	synonymous_variant	57575	exon1			CAACCCCTGCGGG	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.2556C>A	4.37:g.134073851C>A		Somatic	256	0		WXS	Illumina GAIIx	Phase_I	160	60	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134073851	C	A	134073851	2	1	31	1	0	0	0	0	0	0	0	1	11546	668	24	3		3	PCDH10	4	134073851	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1929	134073851	57080425	714	6266											
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	138451929	138451929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgggtgtccccctgtcCtcagcgattacagtcaaact	9	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:138451929C>A	ENST00000344876.4	-	1	1700	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	PCDH18_ENST00000507846.1_Missense_Mutation_p.E218D|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E438D	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCCCCTGTCCTCAGCGATTA	0.373																																					p.E438D		.											.	PCDH18-185	0			c.G1314T						.						136	135	135					4																	138451929		2203	4300	6503	SO:0001583	missense	54510	exon1			CCTGTCCTCAGCG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1314G>T	4.37:g.138451929C>A	ENSP00000355082:p.Glu438Asp	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	29	5	NM_019035	0	0	0	0	0	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026341	0.54683	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.52754	0.65;0.65;0.65	6.04	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000534	T	0.67373	0.2886	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.984;0.999	T	0.67284	-0.5709	10	0.52906	T	0.07	.	11.2053	0.48765	0.0:0.8035:0.0:0.1965	.	218;438;438	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	438;438;218	ENSP00000355082:E438D;ENSP00000390688:E438D;ENSP00000425903:E218D	ENSP00000355082:E438D	E	-	3	2	PCDH18	138671379	0.992000	0.36948	0.998000	0.56505	0.970000	0.65996	0.410000	0.21098	0.454000	0.26884	0.563000	0.77884	GAG	.		0.373	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		A	138451929	C	A	138451929	3	1	31	1	0	0	0	0	1	0	0	0	11552	680	24	3	2109	3	PCDH18	4	138451929	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4378078	138451929	52702347	715	6267											
ZNF330	27309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	142155000	142155000	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accacgatgaggaggaggatGagtatgaagcagaggatgat	16	4	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:142155000G>T	ENST00000262990.4	+	10	1048	c.820G>T	c.(820-822)Gag>Tag	p.E274*	ZNF330_ENST00000421169.2_Nonsense_Mutation_p.E214*	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	274	Asp/Glu-rich (acidic).					chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ggaggaggatgagtatgaagc	0.418																																					p.E274X		.											.	ZNF330-90	0			c.G820T						.						129	126	127					4																	142155000		2203	4300	6503	SO:0001587	stop_gained	27309	exon10			GAGGATGAGTATG	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.820G>T	4.37:g.142155000G>T	ENSP00000262990:p.Glu274*	Somatic	243	1		WXS	Illumina GAIIx	Phase_I	176	42	NM_014487	0	0	0	0	0	B2RDA3	Nonsense_Mutation	SNP	ENST00000262990.4	37	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158285	0.98103	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	.	.	.	6.17	6.17	0.99709	.	0.349525	0.33610	N	0.004722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.5146	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	274;214	.	ENSP00000262990:E274X	E	+	1	0	ZNF330	142374450	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.222000	0.78025	2.941000	0.99782	0.655000	0.94253	GAG	.		0.418	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		T	142155000	G	T	142155000	4	4	31	1	0	0	0	0	0	1	0	0	17896	1291	45	3	854	3	ZNF330	4	142155000	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3703071	142155000	48999276	716	6268											
GAB1	2549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	144359748	144359748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtggatttaaacaaattgcGaaaaggtcagctctagttga	10	5	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:144359748G>C	ENST00000262994.4	+	4	1492	c.1190G>C	c.(1189-1191)cGa>cCa	p.R397P	GAB1_ENST00000505913.1_Missense_Mutation_p.R294P|GAB1_ENST00000262995.4_Missense_Mutation_p.R397P	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	397					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|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)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AACAAATTGCGAAAAGGTCAG	0.378																																					p.R397P		.											.	GAB1-1146	0			c.G1190C						.						90	86	87					4																	144359748		2203	4300	6503	SO:0001583	missense	2549	exon4			AATTGCGAAAAGG	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1190G>C	4.37:g.144359748G>C	ENSP00000262994:p.Arg397Pro	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	44	11	NM_207123	0	0	0	0	0	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025996	0.54683	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.26518	1.73;1.73;1.73	5.59	4.74	0.60224	.	0.060160	0.64402	D	0.000002	T	0.38054	0.1026	M	0.62723	1.935	0.53005	D	0.999968	P;D	0.57571	0.8;0.98	B;P	0.57101	0.282;0.813	T	0.11421	-1.0588	10	0.30854	T	0.27	-29.1809	9.3878	0.38354	0.0713:0.0:0.7839:0.1448	.	397;397	Q13480;Q13480-2	GAB1_HUMAN;.	P	397;397;294	ENSP00000262995:R397P;ENSP00000262994:R397P;ENSP00000424554:R294P	ENSP00000262994:R397P	R	+	2	0	GAB1	144579198	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.160000	0.77495	1.346000	0.45694	0.655000	0.94253	CGA	.		0.378	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		C	144359748	G	C	144359748	3	2	31	1	0	0	0	0	1	0	0	0	6172	1058	37	2	1204	2	GAB1	4	144359748	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2204748	144359748	46794528	717	6269											
MMAA	166785	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	146563573	146563573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagaatattttggaaaaatGcttactgagagagggcacaa	10	4	0	3	rs186933110		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:146563573G>T	ENST00000281317.5	+	3	1708	c.498G>T	c.(496-498)atG>atT	p.M166I	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	166					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGAAAAATGCTTACTGAGA	0.403																																					p.M166I		.											.	MMAA-91	0			c.G498T						.						177	178	178					4																	146563573		2203	4300	6503	SO:0001583	missense	166785	exon3			AAAAATGCTTACT	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.498G>T	4.37:g.146563573G>T	ENSP00000281317:p.Met166Ile	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	71	13	NM_172250	0	0	0	0	0	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705598	0.68615	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91180	-2.8	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);	0.033921	0.85682	D	0.000000	D	0.90896	0.7139	M	0.69523	2.12	0.80722	D	1	P;B	0.35242	0.492;0.093	B;B	0.38225	0.268;0.077	D	0.88736	0.3240	10	0.25106	T;T	0.35;0.35	-25.9969	19.5332	0.95237	0.0:0.0:1.0:0.0	.	166;166	Q8IVH4;D6RIS5	MMAA_HUMAN;.	I	166	ENSP00000281317:M166I	ENSP00000281317:M166I;ENSP00000281317:M166I	M	+	3	0	MMAA	146783023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.608000	0.88229	0.591000	0.81541	ATG	G|0.999;A|0.000		0.403	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			T	146563573	G	T	146563573	3	4	31	1	0	0	0	0	1	0	0	0	9677	1319	46	3	504	3	MMAA	4	146563573	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2203825	146563573	44590703	718	6270											
ARHGAP10	79658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	148968042	148968042	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgctttttttcctcctaGgtgacaatccttacccttcc	4	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:148968042G>T	ENST00000336498.3	+	20	2106		c.e20-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTCCTCCTAGGTGACAATCC	0.443																																					.		.											.	ARHGAP10-229	0			c.1868-1G>T						.						64	67	66					4																	148968042		2203	4299	6502	SO:0001630	splice_region_variant	79658	exon20			CTCCTAGGTGACA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1868-1G>T	4.37:g.148968042G>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	25	9	NM_024605	0	0	0	0	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010451	0.35511	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9082	0.86133	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149187492	1.000000	0.71417	0.998000	0.56505	0.205000	0.24178	5.598000	0.67585	2.723000	0.93209	0.655000	0.94253	.	.		0.443	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron	T	148968042	G	T	148968042	5	4	31	1	0	0	0	0	0	0	1	0	862	1014	35	3	1945	3	ARHGAP10	4	148968042	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2404469	148968042	42186234	719	6271											
SFRP2	6423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	154709637	154709637	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtccttcacctgcacgcaGagcgagtggcatggctggat	14	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:154709637G>T	ENST00000274063.4	-	1	635	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	117	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCTGCACGCAGAGCGAGTGGC	0.642																																					p.L117L		.											.	SFRP2-659	0			c.C351A						.						100	107	105					4																	154709637		2203	4300	6503	SO:0001819	synonymous_variant	6423	exon1			CACGCAGAGCGAG	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.351C>A	4.37:g.154709637G>T		Somatic	256	0		WXS	Illumina GAIIx	Phase_I	200	48	NM_003013	0	0	0	0	0	B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	CCDS34082.1																																																																																			.		0.642	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			T	154709637	G	T	154709637	2	4	31	1	0	0	0	0	0	0	0	1	14207	929	33	3		3	SFRP2	4	154709637	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5741595	154709637	36444639	720	6272											
DCHS2	54798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	155156608	155156608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaccattccggagtggcatCcacagggaccacctcgttac	9	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155156608C>T	ENST00000357232.4	-	25	7830	c.7831G>A	c.(7831-7833)Gat>Aat	p.D2611N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2611					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)		GGAGTGGCATCCACAGGGACC	0.488																																					p.D2611N		.											.	DCHS2-94	0			c.G7831A						.						124	124	124					4																	155156608		2203	4300	6503	SO:0001583	missense	54798	exon25			TGGCATCCACAGG	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.7831G>A	4.37:g.155156608C>T	ENSP00000349768:p.Asp2611Asn	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	64	20	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458872	0.01062	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.82	1.76	0.24704	.	1.139140	0.06477	N	0.732176	T	0.44117	0.1278	L	0.51422	1.61	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.27502	-1.0072	10	0.17832	T	0.49	.	6.4512	0.21903	0.0:0.6331:0.1267:0.2402	.	2611	Q6V1P9	PCD23_HUMAN	N	2611	ENSP00000349768:D2611N	ENSP00000349768:D2611N	D	-	1	0	DCHS2	155376058	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	1.436000	0.34980	0.002000	0.14630	0.467000	0.42956	GAT	.		0.488	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155156608	C	T	155156608	3	4	31	1	0	0	0	0	1	0	0	0	4297	855	30	3	923	3	DCHS2	4	155156608	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	446971	155156608	35997668	721	6273											
DCHS2	54798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	155241704	155241704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaaataaaagtggggttgTggtcatttacatccaaaatc	9	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155241704T>A	ENST00000357232.4	-	14	3481	c.3482A>T	c.(3481-3483)cAc>cTc	p.H1161L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1161	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTGGGGTTGTGGTCATTTAC	0.478																																					p.H1161L		.											.	DCHS2-94	0			c.A3482T						.						201	190	194					4																	155241704		2203	4300	6503	SO:0001583	missense	54798	exon14			GGGTTGTGGTCAT	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.3482A>T	4.37:g.155241704T>A	ENSP00000349768:p.His1161Leu	Somatic	279	0		WXS	Illumina GAIIx	Phase_I	190	60	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155179	0.78114	.	.	ENSG00000197410	ENST00000357232	T	0.38401	1.14	5.59	5.59	0.84812	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.199430	0.35235	N	0.003357	T	0.37919	0.1021	M	0.64404	1.975	0.80722	D	1	P	0.48764	0.915	B	0.42062	0.374	T	0.20571	-1.0271	10	0.22706	T	0.39	.	15.7718	0.78176	0.0:0.0:0.0:1.0	.	1161	Q6V1P9	PCD23_HUMAN	L	1161	ENSP00000349768:H1161L	ENSP00000349768:H1161L	H	-	2	0	DCHS2	155461154	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.698000	0.84413	2.130000	0.65690	0.460000	0.39030	CAC	.		0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155241704	T	A	155241704	3	1	31	1	0	0	0	0	1	0	0	0	4297	1696	59	5	5316	5	DCHS2	4	155241704	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	85096	155241704	35912572	722	6274											
DCHS2	54798	ucsc.edu;bcgsc.ca	37	chr4	155411953	155411953	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaactggcaggcggaaGgcggtccctggcgggctgag	20	10	0	1	rs537489691		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155411953G>T	ENST00000339452.1	-	1	915	c.555C>A	c.(553-555)gcC>gcA	p.A185A	DCHS2_ENST00000456341.2_Silent_p.A178A|DCHS2_ENST00000443500.1_Silent_p.A185A	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1392	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGCGGAAGGCGGTCCCTG	0.667																																					p.A185A		.											.	DCHS2-94	0			c.C555A						.						24	32	29					4																	155411953		692	1591	2283	SO:0001819	synonymous_variant	54798	exon1			GCGGAAGGCGGTC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.555C>A	4.37:g.155411953G>T		Somatic	247	2		WXS	Illumina GAIIx	Phase_I	414	114	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000339452.1	37	CCDS47150.1																																																																																			.		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		T	155411953	G	T	155411953	2	4	31	1	0	0	0	0	0	0	0	1	4297	987	35	3		3	DCHS2	4	155411953	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	170249	155411953	35742323	723	6275											
GRIA2	2891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	158224710	158224710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcctattcttctagtctgctCccagttttcgagaggagtct	8	11	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:158224710C>A	ENST00000264426.9	+	3	515	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000507898.1_Missense_Mutation_p.S32Y|GRIA2_ENST00000393815.2_Missense_Mutation_p.S32Y|GRIA2_ENST00000296526.7_Missense_Mutation_p.S79Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.S32Y	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	79					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTAGTCTGCTCCCAGTTTTCG	0.343																																					p.S79Y		.											.	GRIA2-515	0			c.C236A						.						94	93	93					4																	158224710		2203	4300	6503	SO:0001583	missense	2891	exon3			TCTGCTCCCAGTT		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.236C>A	4.37:g.158224710C>A	ENSP00000264426:p.Ser79Tyr	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	49	8	NM_000826	0	0	0	0	0	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.814065	0.90790	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	T;T;T;T;T;D;T;T	0.83506	2.01;2.01;2.01;2.01;2.01;-1.73;2.01;2.01	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	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;0.998	D	0.90855	0.4734	10	0.72032	D	0.01	.	20.0536	0.97638	0.0:1.0:0.0:0.0	.	79;79;32	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Y	32;32;79;79;79;32;32;32	ENSP00000426845:S32Y;ENSP00000377403:S32Y;ENSP00000425217:S79Y;ENSP00000296526:S79Y;ENSP00000264426:S79Y;ENSP00000426513:S32Y;ENSP00000422038:S32Y;ENSP00000389837:S32Y	ENSP00000264426:S79Y	S	+	2	0	GRIA2	158444160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.737000	0.93849	0.650000	0.86243	TCC	.		0.343	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158224710	C	A	158224710	3	1	31	1	0	0	0	0	1	0	0	0	6795	855	30	3	246	3	GRIA2	4	158224710	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2812757	158224710	32929566	724	6276											
GRIA2	2891	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	158281286	158281287	+	Nonsense_Mutation	DNP	CC	CC	AG													catcgcaacacctaaaggatCctcattaaggtgggtggaat					rs375723423	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:158281286_158281287CC>AG	ENST00000264426.9	+	13	2561_2562	c.2282_2283CC>AG	c.(2281-2283)tCC>tAG	p.S761*	GRIA2_ENST00000507898.1_Nonsense_Mutation_p.S714*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.S714*|GRIA2_ENST00000296526.7_Nonsense_Mutation_p.S761*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.S714*|AC079233.1_ENST00000578227.1_RNA	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	761					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCTAAAGGATCCTCATTAAGGT	0.421																																					p.S761*		.											.	GRIA2-515	0			c.C2283G						.																																			SO:0001587	stop_gained	2891	exon13			AGGATCCTCATTA		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	Exception_encountered	4.37:g.158281286_158281287delinsAG	ENSP00000264426:p.Ser761*	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	151	0	NM_000826	0	0	0	0	0	A8MT92|I6L997|Q96FP6	Nonsense_Mutation	DNP	ENST00000264426.9	37	CCDS43274.1																																																																																			.		0.421	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			AG	158281287	CC	AG	158281286	4	1	31	1	0	0	0	0	0	1	0	0	6795	855	30	3	2332	3	GRIA2	4	158281286	Nonsense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	56576	158281286	32872990	725	6277											
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	159092012	159092012	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgctctccaatcttaacCaggtttgctccctgagcgta	9	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159092012C>G	ENST00000296530.8	-	2	1137	c.516G>C	c.(514-516)ctG>ctC	p.L172L	FAM198B_ENST00000592057.1_Silent_p.L172L|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000585682.1_Silent_p.L172L|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Silent_p.L172L|RP11-597D13.9_ENST00000505532.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	172						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAATCTTAACCAGGTTTGCTC	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L172L		.											.	FAM198B-90	0			c.G516C						.						47	50	49					4																	159092012		2203	4300	6503	SO:0001819	synonymous_variant	51313	exon2			CTTAACCAGGTTT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.516G>C	4.37:g.159092012C>G		Somatic	134	0	1798	WXS	Illumina GAIIx	Phase_I	91	24	NM_016613	0	0	0	0	0	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																			.		0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		G	159092012	C	G	159092012	2	3	31	1	0	0	0	0	0	0	0	1	5548	581	21	3		3	FAM198B	4	159092012	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	810726	159092012	32062264	726	6278											
TMEM144	55314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	159162724	159162724	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcatagcaaatcactctcTgagtgctgtggtcagttttc	9	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159162724T>A	ENST00000296529.6	+	11	1386	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	289						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATCACTCTCTGAGTGCTGTG	0.388																																					p.L289Q		.											.	TMEM144-90	0			c.T866A						.						276	251	260					4																	159162724		2203	4300	6503	SO:0001583	missense	55314	exon11			ACTCTCTGAGTGC	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.866T>A	4.37:g.159162724T>A	ENSP00000296529:p.Leu289Gln	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	35	10	NM_018342	0	0	0	0	0	D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319629	0.81469	.	.	ENSG00000164124	ENST00000296529	T	0.72394	-0.65	5.72	5.72	0.89469	.	0.074930	0.53938	D	0.000043	D	0.85944	0.5815	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88443	0.3043	10	0.72032	D	0.01	-46.2679	13.9523	0.64126	0.0:0.0:0.0:1.0	.	289	Q7Z5S9	TM144_HUMAN	Q	289	ENSP00000296529:L289Q	ENSP00000296529:L289Q	L	+	2	0	TMEM144	159382174	1.000000	0.71417	0.917000	0.36280	0.957000	0.61999	6.073000	0.71245	2.183000	0.69458	0.477000	0.44152	CTG	.		0.388	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		A	159162724	T	A	159162724	3	1	31	1	0	0	0	0	1	0	0	0	16105	1580	55	5	900	5	TMEM144	4	159162724	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	70712	159162724	31991552	727	6279											
RXFP1	59350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	159573178	159573178	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaaatgtcactgatttctCaatcaacgagactcaattcc	6	10	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159573178C>A	ENST00000307765.5	+	18	2496	c.2245C>A	c.(2245-2247)Caa>Aaa	p.Q749K	RXFP1_ENST00000448688.2_Missense_Mutation_p.Q644K|RXFP1_ENST00000343542.5_Missense_Mutation_p.Q701K|RXFP1_ENST00000470033.1_Missense_Mutation_p.Q716K|RXFP1_ENST00000460056.2_Missense_Mutation_p.Q668K	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	749					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)			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)		ACTGATTTCTCAATCAACGAG	0.438																																					p.Q776K		.											.	RXFP1-91	0			c.C2326A						.						106	98	100					4																	159573178		1860	4113	5973	SO:0001583	missense	59350	exon18			ATTTCTCAATCAA	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.2245C>A	4.37:g.159573178C>A	ENSP00000303248:p.Gln749Lys	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	46	9	NM_001253727	0	0	0	0	0	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708801	0.30322	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.69040	-0.22;-0.32;-0.19;-0.37;-0.33	5.75	4.04	0.47022	.	0.281717	0.34025	N	0.004330	T	0.57621	0.2066	L	0.44542	1.39	0.30765	N	0.743683	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002;0.001;0.001;0.001	T	0.56153	-0.8026	10	0.36615	T	0.2	.	12.6944	0.56994	0.0:0.8828:0.0:0.1172	.	760;776;644;701;716;668;619;749	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	K	668;749;644;701;716;619	ENSP00000423306:Q668K;ENSP00000303248:Q749K;ENSP00000414885:Q644K;ENSP00000345889:Q701K;ENSP00000420712:Q716K	ENSP00000303248:Q749K	Q	+	1	0	RXFP1	159792628	0.997000	0.39634	0.745000	0.31077	0.338000	0.28826	2.077000	0.41557	0.777000	0.33496	0.655000	0.94253	CAA	.		0.438	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		A	159573178	C	A	159573178	3	1	31	1	0	0	0	0	1	0	0	0	13804	827	29	3	2315	3	RXFP1	4	159573178	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	410454	159573178	31581098	728	6280											
NPY1R	4886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	164247178	164247178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctcatcagtcattacttGgtagatcaggaaaggcaaag	11	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:164247178G>T	ENST00000296533.2	-	2	1060	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	177					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)	p.Q177K(1)		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)				GTCATTACTTGGTAGATCAGG	0.433																																					p.Q177K		.											.	NPY1R-523	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C529A						.						120	111	114					4																	164247178		2203	4300	6503	SO:0001583	missense	4886	exon2			TTACTTGGTAGAT		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.529C>A	4.37:g.164247178G>T	ENSP00000354652:p.Gln177Lys	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	124	26	NM_000909	0	0	0	0	0	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623761	0.28889	.	.	ENSG00000164128	ENST00000296533	T	0.71934	-0.61	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.377447	0.28388	N	0.015533	T	0.64907	0.2641	L	0.48218	1.51	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.60576	-0.7236	10	0.29301	T	0.29	.	14.9312	0.70916	0.0:0.0:0.857:0.143	.	177	P25929	NPY1R_HUMAN	K	177	ENSP00000354652:Q177K	ENSP00000354652:Q177K	Q	-	1	0	NPY1R	164466628	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.844000	0.48246	2.771000	0.95319	0.655000	0.94253	CAA	.		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			T	164247178	G	T	164247178	3	4	31	1	0	0	0	0	1	0	0	0	10647	1357	47	3	633	3	NPY1R	4	164247178	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4674000	164247178	26907098	729	6281											
TKTL2	84076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	164393463	164393463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtttctggttggctggttCgaatgaagcacattcccttg	11	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:164393463C>A	ENST00000280605.3	-	1	1584	c.1424G>T	c.(1423-1425)cGa>cTa	p.R475L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	475						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R475Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGCTGGTTCGAATGAAGCA	0.453																																					p.R475L		.											.	TKTL2-95	1	Substitution - Missense(1)	skin(1)	c.G1424T						.						104	110	108					4																	164393463		2203	4300	6503	SO:0001583	missense	84076	exon1			CTGGTTCGAATGA	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1424G>T	4.37:g.164393463C>A	ENSP00000280605:p.Arg475Leu	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	86	25	NM_032136	0	0	0	0	0	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454001	0.63290	.	.	ENSG00000151005	ENST00000280605	D	0.91464	-2.85	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.96620	0.8897	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	D	0.96055	0.9034	10	0.87932	D	0	-12.685	8.054	0.30593	0.0:0.8931:0.0:0.1069	.	475	Q9H0I9	TKTL2_HUMAN	L	475	ENSP00000280605:R475L	ENSP00000280605:R475L	R	-	2	0	TKTL2	164612913	0.913000	0.31002	0.224000	0.23877	0.811000	0.45836	5.223000	0.65283	2.611000	0.88343	0.650000	0.86243	CGA	.		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393463	C	A	164393463	3	1	31	1	0	0	0	0	1	0	0	0	15983	884	31	2	460	2	TKTL2	4	164393463	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	146285	164393463	26760813	730	6282											
TLL1	7092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	166960572	166960572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtaagagacgggtacTggagaaaatcacctctcctt	10	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:166960572T>A	ENST00000061240.2	+	10	1887	c.1240T>A	c.(1240-1242)Tgg>Agg	p.W414R	TLL1_ENST00000507499.1_Missense_Mutation_p.W414R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	414	CUB 1. {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)		AGACGGGTACTGGAGAAAATC	0.383																																					p.W414R		.											.	TLL1-158	0			c.T1240A						.						132	123	126					4																	166960572		2203	4300	6503	SO:0001583	missense	7092	exon10			GGGTACTGGAGAA	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.1240T>A	4.37:g.166960572T>A	ENSP00000061240:p.Trp414Arg	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	63	13	NM_012464	0	0	0	0	0	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242741	0.58995	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.33438	1.41;1.41	5.62	5.62	0.85841	CUB (5);	0.000000	0.85682	U	0.000000	T	0.49081	0.1536	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.32903	-0.9889	10	0.25751	T	0.34	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	414;414	E9PD25;O43897	.;TLL1_HUMAN	R	414	ENSP00000061240:W414R;ENSP00000426082:W414R	ENSP00000061240:W414R	W	+	1	0	TLL1	167180022	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	7.948000	0.87774	2.141000	0.66446	0.460000	0.39030	TGG	.		0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			A	166960572	T	A	166960572	3	1	31	1	0	0	0	0	1	0	0	0	15992	1580	55	5	1278	5	TLL1	4	166960572	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2567109	166960572	24193704	731	6283											
TLL1	7092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	167020586	167020586	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttccagacatttgaagtGgaggaagaagcagactgtgg	13	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:167020586G>T	ENST00000061240.2	+	20	3461	c.2814G>T	c.(2812-2814)gtG>gtT	p.V938V	TLL1_ENST00000507499.1_Silent_p.V961V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	938	CUB 5. {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)		CATTTGAAGTGGAGGAAGAAG	0.463																																					p.V938V		.											.	TLL1-158	0			c.G2814T						.						205	199	201					4																	167020586		2203	4300	6503	SO:0001819	synonymous_variant	7092	exon20			TGAAGTGGAGGAA	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.2814G>T	4.37:g.167020586G>T		Somatic	290	0		WXS	Illumina GAIIx	Phase_I	172	55	NM_012464	0	0	0	0	0	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																			.		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	167020586	G	T	167020586	2	4	31	1	0	0	0	0	0	0	0	1	15992	1335	47	3		3	TLL1	4	167020586	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	60014	167020586	24133690	732	6284											
DDX60L	91351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	169383010	169383010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtttgtaaatcactcaggCcttcctctgaaactatcaga	6	11	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:169383010C>A	ENST00000511577.1	-	5	693	c.446G>T	c.(445-447)gGc>gTc	p.G149V	DDX60L_ENST00000505890.1_Missense_Mutation_p.G149V|DDX60L_ENST00000260184.7_Missense_Mutation_p.G149V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	149							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATCACTCAGGCCTTCCTCTGA	0.383																																					p.G149V		.											.	DDX60L-69	0			c.G446T						.						61	55	57					4																	169383010		1859	4091	5950	SO:0001583	missense	91351	exon5			CTCAGGCCTTCCT	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.446G>T	4.37:g.169383010C>A	ENSP00000422423:p.Gly149Val	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	87	23	NM_001012967	0	0	0	0	0	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	14.84	2.654192	0.47362	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.23348	1.92;1.92;1.91	3.49	1.57	0.23409	.	0.000000	0.38326	U	0.001735	T	0.42040	0.1185	M	0.69358	2.11	0.41065	D	0.985401	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11060	-1.0603	10	0.37606	T	0.19	.	7.4275	0.27107	0.0:0.7169:0.1776:0.1055	.	149;149	D6R906;Q5H9U9	.;DDX6L_HUMAN	V	149	ENSP00000260184:G149V;ENSP00000422423:G149V;ENSP00000422202:G149V	ENSP00000260184:G149V	G	-	2	0	DDX60L	169619585	1.000000	0.71417	0.254000	0.24359	0.062000	0.15995	2.402000	0.44521	0.044000	0.15775	0.467000	0.42956	GGC	.		0.383	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		A	169383010	C	A	169383010	3	1	31	1	0	0	0	0	1	0	0	0	4388	739	26	3	4810	3	DDX60L	4	169383010	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2362424	169383010	21771266	733	6285											
NEK1	4750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	170506532	170506532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttttcaatgcgtttggCtataaaacctttctccaata	4	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:170506532C>A	ENST00000439128.2	-	9	1415	c.775G>T	c.(775-777)Gcc>Tcc	p.A259S	NEK1_ENST00000511633.1_Missense_Mutation_p.A259S|NEK1_ENST00000510533.1_Missense_Mutation_p.A259S|NEK1_ENST00000512193.1_Missense_Mutation_p.A259S|NEK1_ENST00000507142.1_Missense_Mutation_p.A259S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	259					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGCGTTTGGCTATAAAACCT	0.383																																					p.A259S		.											.	NEK1-361	0			c.G775T						.						77	73	74					4																	170506532		1832	4084	5916	SO:0001583	missense	4750	exon10			GTTTGGCTATAAA	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.775G>T	4.37:g.170506532C>A	ENSP00000408020:p.Ala259Ser	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	90	17	NM_001199399	0	0	0	0	0	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.738335|2.738335	0.49045|0.49045	.|.	.|.	ENSG00000137601|ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193|ENST00000505119	T;T;T;T;T|.	0.24538|.	1.85;1.85;1.85;1.85;1.85|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Protein kinase-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.63850|0.63850	0.2546|0.2546	L|L	0.49350|0.49350	1.555|1.555	0.45979|0.45979	D|D	0.998791|0.998791	B;B;P;B;P;B|.	0.44986|.	0.03;0.415;0.529;0.415;0.847;0.291|.	B;B;B;B;B;B|.	0.39971|.	0.059;0.161;0.315;0.202;0.276;0.099|.	T|T	0.59279|0.59279	-0.7484|-0.7484	10|5	0.29301|.	T|.	0.29|.	.|.	14.8799|14.8799	0.70525|0.70525	0.1435:0.8565:0.0:0.0|0.1435:0.8565:0.0:0.0	.|.	259;259;259;259;259;259|.	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6|.	.;.;.;.;.;NEK1_HUMAN|.	S|I	259|40	ENSP00000408020:A259S;ENSP00000423332:A259S;ENSP00000427653:A259S;ENSP00000424757:A259S;ENSP00000424938:A259S|.	ENSP00000408020:A259S|.	A|S	-|-	1|2	0|0	NEK1|NEK1	170743107|170743107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.206000|2.206000	0.42779|0.42779	2.756000|2.756000	0.94617|0.94617	0.591000|0.591000	0.81541|0.81541	GCC|AGC	.		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			A	170506532	C	A	170506532	3	1	31	1	0	0	0	0	1	0	0	0	10360	797	28	3	3105	3	NEK1	4	170506532	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1123522	170506532	20647744	734	6286											
GALNTL6	442117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	173734869	173734869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcagatcccagcgacccTtttgagtgagtagcagccaa	12	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:173734869T>C	ENST00000506823.1	+	7	1575	c.918T>C	c.(916-918)ccT>ccC	p.P306P	GALNTL6_ENST00000508122.1_Silent_p.P289P	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	306	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						CCAGCGACCCTTTTGAGTGAG	0.537																																					p.P306P		.											.	GALNTL6-137	0			c.T918C						.						42	43	43					4																	173734869		2203	4300	6503	SO:0001819	synonymous_variant	442117	exon7			CGACCCTTTTGAG		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.918T>C	4.37:g.173734869T>C		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	73	23	NM_001034845	0	0	0	0	0	Q2L4S6	Silent	SNP	ENST00000506823.1	37	CCDS34104.1																																																																																			.		0.537	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		C	173734869	T	C	173734869	2	2	31	1	0	0	0	0	0	0	0	1	6250	1596	56	4		4	GALNTL6	4	173734869	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3228337	173734869	17419407	735	6287											
WDR17	116966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	177098263	177098263	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaattgaatatctttcTgaggaattggatgcatggag	10	3	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:177098263T>A	ENST00000280190.4	+	29	3777	c.3621T>A	c.(3619-3621)tcT>tcA	p.S1207S	WDR17_ENST00000393643.2_Silent_p.S1183S|WDR17_ENST00000508596.1_Silent_p.S1168S|WDR17_ENST00000507824.2_Silent_p.S1182S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1207										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AATATCTTTCTGAGGAATTGG	0.363																																					p.S1207S		.											.	WDR17-95	0			c.T3621A						.						66	68	67					4																	177098263		2203	4299	6502	SO:0001819	synonymous_variant	116966	exon29			TCTTTCTGAGGAA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3621T>A	4.37:g.177098263T>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	49	14	NM_170710	0	0	0	0	0	E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	2.700	-0.271221	0.05716	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.85	0.247	0.15521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3296	5.6622	0.17674	0.0:0.2922:0.132:0.5759	.	.	.	.	R	442	.	.	X	+	1	0	WDR17	177335257	0.942000	0.31987	0.999000	0.59377	0.136000	0.21042	-0.068000	0.11561	0.115000	0.18071	-0.426000	0.05927	TGA	.		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			A	177098263	T	A	177098263	2	1	31	1	0	0	0	0	0	0	0	1	17326	1567	55	5		5	WDR17	4	177098263	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3363394	177098263	14056013	736	6288											
ODZ3	55714	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	183659684	183659684	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagataaacatcacgtgctGgatgtacagaacggtaagct	10	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:183659684G>T	ENST00000511685.1	+	18	3489	c.3366G>T	c.(3364-3366)ctG>ctT	p.L1122L	TENM3_ENST00000406950.2_Silent_p.L1122L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1122					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)										ATCACGTGCTGGATGTACAGA	0.438																																					p.L1122L		.											.	.	0			c.G3366T						.						180	172	175					4																	183659684		1980	4160	6140	SO:0001819	synonymous_variant	55714	exon17			CGTGCTGGATGTA	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.3366G>T	4.37:g.183659684G>T		Somatic	159	1		WXS	Illumina GAIIx	Phase_I	158	35	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			.		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183659684	G	T	183659684	2	4	31	1	0	0	0	0	0	0	0	1	10875	1335	47	3		3	ODZ3	4	183659684	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6561421	183659684	7494592	737	6289											
MTNR1A	4543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187455197	187455197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtgacaaaattcctgaaGtcctgtggtttcagtttggg	12	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187455197G>T	ENST00000307161.5	-	2	900	c.699C>A	c.(697-699)gaC>gaA	p.D233E	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	233					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AATTCCTGAAGTCCTGTGGTT	0.493																																					p.D233E		.											.	MTNR1A-524	0			c.C699A						.						138	147	144					4																	187455197		2203	4300	6503	SO:0001583	missense	4543	exon2			CCTGAAGTCCTGT		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.699C>A	4.37:g.187455197G>T	ENSP00000302811:p.Asp233Glu	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	219	62	NM_005958	0	0	0	0	0	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834221	0.16820	.	.	ENSG00000168412	ENST00000307161	T	0.67523	-0.27	4.96	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.29908	0.895	0.49483	D	0.999797	P	0.36465	0.554	B	0.38225	0.268	T	0.25676	-1.0125	10	0.27785	T	0.31	-28.4746	8.56	0.33505	0.3712:0.0:0.6287:0.0	.	233	P48039	MTR1A_HUMAN	E	233	ENSP00000302811:D233E	ENSP00000302811:D233E	D	-	3	2	MTNR1A	187692191	1.000000	0.71417	0.995000	0.50966	0.481000	0.33189	2.543000	0.45752	-0.068000	0.12953	-0.136000	0.14681	GAC	.		0.493	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			T	187455197	G	T	187455197	3	4	31	1	0	0	0	0	1	0	0	0	9989	1020	36	3	357	3	MTNR1A	4	187455197	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3795513	187455197	3699079	738	6290											
MTNR1A	4543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187455239	187455239	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcggtcaggtttcaccctCtgtctgacctggagaaccag	11	12	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187455239C>A	ENST00000307161.5	-	2	858	c.657G>T	c.(655-657)caG>caT	p.Q219H	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	219					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GTTTCACCCTCTGTCTGACCT	0.483																																					p.Q219H		.											.	MTNR1A-524	0			c.G657T						.						146	151	150					4																	187455239		2203	4300	6503	SO:0001583	missense	4543	exon2			CACCCTCTGTCTG		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.657G>T	4.37:g.187455239C>A	ENSP00000302811:p.Gln219His	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	236	73	NM_005958	0	0	0	0	0	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	0.872	-0.731533	0.03135	.	.	ENSG00000168412	ENST00000307161	T	0.38240	1.15	4.96	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	0.246391	0.40554	N	0.001065	T	0.08088	0.0202	N	0.00996	-1.065	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.20672	-1.0268	10	0.22109	T	0.4	-0.9065	1.2852	0.02049	0.1253:0.2711:0.2493:0.3543	.	219	P48039	MTR1A_HUMAN	H	219	ENSP00000302811:Q219H	ENSP00000302811:Q219H	Q	-	3	2	MTNR1A	187692233	0.073000	0.21202	0.092000	0.20876	0.074000	0.17049	0.141000	0.16076	-0.096000	0.12329	-0.150000	0.13652	CAG	.		0.483	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			A	187455239	C	A	187455239	3	1	31	1	0	0	0	0	1	0	0	0	9989	912	32	3	399	3	MTNR1A	4	187455239	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	42	187455239	3699037	739	6291											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	187539244	187539245	+	Missense_Mutation	DNP	CC	CC	AA													cctgagtcagcatcagatgcCctgatctgaattactctact							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187539244_187539245CC>AA	ENST00000441802.2	-	10	8704_8705	c.8495_8496GG>TT	c.(8494-8496)aGG>aTT	p.R2832I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2832	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						CATCAGATGCCCTGATCTGAAT	0.441										HNSCC(5;0.00058)																											p.R2834I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G8495T						.																																			SO:0001583	missense	2195	exon10			GATGCCCTGATCT	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.8495_8496delinsAA	4.37:g.187539244_187539245delinsAA	ENSP00000406229:p.Arg2832Ile	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	64	3	NM_005245	0	0	0	0	0		Missense_Mutation	DNP	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.441	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		AA	187539245	CC	AA	187539244	3	1	31	1	0	0	0	0	1	0	0	0	5711	622	22	3	5342	3	FAT1	4	187539244	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	84005	187539244	3615032	740	6292											
FAT1	2195	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	187541066	187541066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttaatagtgaactggCtgaaagggtctccgtctgtg	13	6	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187541066C>A	ENST00000441802.2	-	10	6883	c.6674G>T	c.(6673-6675)aGc>aTc	p.S2225I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2225	Cadherin 20. {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						AGTGAACTGGCTGAAAGGGTC	0.527										HNSCC(5;0.00058)																											p.S2225I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G6674T						.						174	178	177					4																	187541066		2021	4177	6198	SO:0001583	missense	2195	exon10			AACTGGCTGAAAG	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.6674G>T	4.37:g.187541066C>A	ENSP00000406229:p.Ser2225Ile	Somatic	173	2		WXS	Illumina GAIIx	Phase_I	128	35	NM_005245	0	0	0	0	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	3.623	-0.077223	0.07184	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.62232	0.04	5.05	3.29	0.37713	Cadherin (4);Cadherin-like (1);	0.189869	0.56097	D	0.000040	T	0.68540	0.3012	M	0.62088	1.915	0.33117	D	0.541292	P	0.50066	0.931	P	0.58077	0.832	T	0.74864	-0.3519	10	0.44086	T	0.13	.	8.3897	0.32520	0.0:0.6883:0.0:0.3117	.	2225	Q14517	FAT1_HUMAN	I	2225;2227	ENSP00000406229:S2225I	ENSP00000260147:S2227I	S	-	2	0	FAT1	187778060	1.000000	0.71417	0.991000	0.47740	0.019000	0.09904	0.947000	0.29082	1.353000	0.45828	-0.150000	0.13652	AGC	.		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541066	C	A	187541066	3	1	31	1	0	0	0	0	1	0	0	0	5711	797	28	3	7164	3	FAT1	4	187541066	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1822	187541066	3613210	741	6293											
TRIML1	339976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	189068073	189068073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagacagcagctaccCgacaacccggaaagatttga	11	11	0	3	rs374096380		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:189068073C>A	ENST00000332517.3	+	6	1094	c.954C>A	c.(952-954)ccC>ccA	p.P318P	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P318P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGCAGCTACCCGACAACCCGG	0.547																																					p.P318P	Melanoma(31;213 1036 16579 23968 32372)	.											.	TRIML1-156	1	Substitution - coding silent(1)	lung(1)	c.C954A						.						119	112	114					4																	189068073		2203	4300	6503	SO:0001819	synonymous_variant	339976	exon6			GCTACCCGACAAC	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.954C>A	4.37:g.189068073C>A		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	179	57	NM_178556	0	0	0	0	0	Q96BE5	Silent	SNP	ENST00000332517.3	37	CCDS3851.1																																																																																			.		0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		A	189068073	C	A	189068073	2	1	31	1	0	0	0	0	0	0	0	1	16598	639	23	2		2	TRIML1	4	189068073	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1527007	189068073	2086203	742	6294											
IRX4	50805	ucsc.edu;bcgsc.ca	37	chr5	1879752	1879752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtcatcttgttctccttcTtgaggcgccggcgcgcgttg	12	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:1879752T>C	ENST00000505790.1	-	5	1058	c.602A>G	c.(601-603)aAg>aGg	p.K201R	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.K201R|IRX4_ENST00000513692.1_Missense_Mutation_p.K201R	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	201					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTTCTCCTTCTTGAGGCGCCG	0.657																																					p.K201R		.											.	IRX4-226	0			c.A602G						.						85	75	78					5																	1879752		2203	4300	6503	SO:0001583	missense	50805	exon4			TCCTTCTTGAGGC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.602A>G	5.37:g.1879752T>C	ENSP00000423161:p.Lys201Arg	Somatic	156	3		WXS	Illumina GAIIx	Phase_I	285	94	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368575	0.82463	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.84660	-1.88;-1.88;-1.88	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.90248	0.4291	10	0.56958	D	0.05	-17.8676	12.8941	0.58089	0.0:0.0:0.0:1.0	.	201	P78413	IRX4_HUMAN	R	201	ENSP00000231357:K201R;ENSP00000423161:K201R;ENSP00000424235:K201R	ENSP00000231357:K201R	K	-	2	0	IRX4	1932752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.585000	0.82584	1.680000	0.50976	0.379000	0.24179	AAG	.		0.657	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		C	1879752	T	C	1879752	3	2	31	1	0	0	0	0	1	0	0	0	7873	1609	56	4	965	4	IRX4	5	1879752	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10		1879752	179035508	743	6295											
KIAA0947	23379	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	5457693	5457693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtacaaagtcatcgtgacGgtggtagtactgaatttgtt	11	5	1	2	rs76783275	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5457693G>T	ENST00000296564.7	+	12	1162	c.940G>T	c.(940-942)Ggt>Tgt	p.G314C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		314					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						TCATCGTGACGGTGGTAGTAC	0.378																																					p.G314C		.											.	KIAA0947-48	0			c.G940T						.						130	127	128					5																	5457693		1907	4121	6028	SO:0001583	missense	23379	exon12			CGTGACGGTGGTA																												ENST00000296564.7:c.940G>T	5.37:g.5457693G>T	ENSP00000296564:p.Gly314Cys	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	185	61	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102813	0.37145	.	.	ENSG00000164151	ENST00000296564	T	0.10099	2.91	5.02	-1.43	0.08884	.	1.781990	0.02877	N	0.132380	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	P	0.43857	0.819	B	0.37387	0.248	T	0.13656	-1.0501	10	0.56958	D	0.05	0.3396	2.9456	0.05845	0.2405:0.1221:0.5127:0.1246	.	314	Q9Y2F5	K0947_HUMAN	C	314	ENSP00000296564:G314C	ENSP00000296564:G314C	G	+	1	0	KIAA0947	5510693	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.183000	0.09712	-0.720000	0.04935	-1.175000	0.01729	GGT	G|0.986;A|0.014		0.378	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5457693	G	T	5457693	3	4	31	1	0	0	0	0	1	0	0	0	8229	1116	39	2	986	2	KIAA0947	5	5457693	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3577941	5457693	175457567	744	6296											
KIAA0947	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	5460966	5460966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattcataaactcactcgaGgtctatgcattgagagattg	8	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5460966G>T	ENST00000296564.7	+	13	1741	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		507					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						ACTCACTCGAGGTCTATGCAT	0.443																																					p.G507C		.											.	KIAA0947-48	0			c.G1519T						.						104	110	108					5																	5460966		1980	4145	6125	SO:0001583	missense	23379	exon13			ACTCGAGGTCTAT																												ENST00000296564.7:c.1519G>T	5.37:g.5460966G>T	ENSP00000296564:p.Gly507Cys	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	216	78	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554958	0.45487	.	.	ENSG00000164151	ENST00000296564	T	0.09911	2.93	4.64	-4.91	0.03085	.	2.921640	0.00888	N	0.002212	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.43301	0.415	T	0.29119	-1.0022	10	0.56958	D	0.05	-0.2065	6.838	0.23947	0.2774:0.0:0.5671:0.1554	.	507	Q9Y2F5	K0947_HUMAN	C	507	ENSP00000296564:G507C	ENSP00000296564:G507C	G	+	1	0	KIAA0947	5513966	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.590000	0.05760	-0.651000	0.05415	0.305000	0.20034	GGT	.		0.443	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5460966	G	T	5460966	3	4	31	1	0	0	0	0	1	0	0	0	8229	1000	35	3	1569	3	KIAA0947	5	5460966	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3273	5460966	175454294	745	6297											
KIAA0947	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	5462358	5462358	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatccaaaaccaagacAttgtgagagaagctgcagtg	9	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5462358A>T	ENST00000296564.7	+	13	3133	c.2911A>T	c.(2911-2913)Att>Ttt	p.I971F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		971					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						AAACCAAGACATTGTGAGAGA	0.468																																					p.I971F		.											.	KIAA0947-48	0			c.A2911T						.						26	28	27					5																	5462358		1997	4196	6193	SO:0001583	missense	23379	exon13			CAAGACATTGTGA																												ENST00000296564.7:c.2911A>T	5.37:g.5462358A>T	ENSP00000296564:p.Ile971Phe	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	86	32	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.113705	0.37339	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	4.35	-8.69	0.00855	.	4.117930	0.00725	N	0.000916	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.33135	0.399	B	0.26416	0.069	T	0.19844	-1.0293	10	0.38643	T	0.18	5.2711	3.6464	0.08187	0.1575:0.2481:0.4711:0.1233	.	971	Q9Y2F5	K0947_HUMAN	F	971	ENSP00000296564:I971F	ENSP00000296564:I971F	I	+	1	0	KIAA0947	5515358	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.620000	0.02046	-1.696000	0.01421	0.378000	0.23410	ATT	.		0.468	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5462358	A	T	5462358	3	4	31	1	0	0	0	0	1	0	0	0	8229	217	8	5	2961	5	KIAA0947	5	5462358	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1392	5462358	175452902	746	6298											
KIAA0947	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	5466585	5466585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcggagacttggaaagagctCgtttgttttgctacagccta	11	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5466585C>G	ENST00000296564.7	+	14	6253	c.6031C>G	c.(6031-6033)Cgt>Ggt	p.R2011G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2011					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						GGAAAGAGCTCGTTTGTTTTG	0.388																																					p.R2011G		.											.	KIAA0947-48	0			c.C6031G						.						163	150	154					5																	5466585		1863	4086	5949	SO:0001583	missense	23379	exon14			AGAGCTCGTTTGT																												ENST00000296564.7:c.6031C>G	5.37:g.5466585C>G	ENSP00000296564:p.Arg2011Gly	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	105	13	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690685	0.88735	.	.	ENSG00000164151	ENST00000296564	T	0.20069	2.1	5.66	5.66	0.87406	.	.	.	.	.	T	0.44705	0.1306	L	0.56769	1.78	0.48975	D	0.999738	D	0.71674	0.998	D	0.79108	0.992	T	0.28427	-1.0044	9	0.87932	D	0	-8.9949	17.2442	0.87022	0.0:1.0:0.0:0.0	.	2011	Q9Y2F5	K0947_HUMAN	G	2011	ENSP00000296564:R2011G	ENSP00000296564:R2011G	R	+	1	0	KIAA0947	5519585	1.000000	0.71417	0.944000	0.38274	0.993000	0.82548	6.880000	0.75578	2.675000	0.91044	0.557000	0.71058	CGT	.		0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5466585	C	G	5466585	3	3	31	1	0	0	0	0	1	0	0	0	8229	884	31	2	6085	2	KIAA0947	5	5466585	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4227	5466585	175448675	747	6299											
SEMA5A	9037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	9154783	9154783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtctgattcaggggtaccCgcactttcttaatggttccg	11	10	3	1	rs138343991		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:9154783C>A	ENST00000382496.5	-	12	1963	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L		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	433	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						CAGGGGTACCCGCACTTTCTT	0.512																																					p.R433L		.											.	SEMA5A-91	0			c.G1298T						.						88	86	87					5																	9154783		2203	4300	6503	SO:0001583	missense	9037	exon12			GGTACCCGCACTT	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.1298G>T	5.37:g.9154783C>A	ENSP00000371936:p.Arg433Leu	Somatic	272	0		WXS	Illumina GAIIx	Phase_I	377	106	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716140	0.15306	.	.	ENSG00000112902	ENST00000382496	T	0.19669	2.13	5.59	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.062767	0.64402	D	0.000003	T	0.02571	0.0078	N	0.00014	-2.9	0.42698	D	0.993602	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	10	0.06625	T	0.88	.	10.3509	0.43934	0.3223:0.6777:0.0:0.0	.	433	Q13591	SEM5A_HUMAN	L	433	ENSP00000371936:R433L	ENSP00000371936:R433L	R	-	2	0	SEMA5A	9207783	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	6.383000	0.73172	2.646000	0.89796	0.591000	0.81541	CGG	C|0.999;T|0.000		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9154783	C	A	9154783	3	1	31	1	0	0	0	0	1	0	0	0	14082	652	23	2	1974	2	SEMA5A	5	9154783	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3688198	9154783	171760477	748	6300											
SEMA5A	9037	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	9202086	9202086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacattggtggtaaagatgcCatagatcaaatccagctcag	9	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:9202086C>A	ENST00000382496.5	-	9	1578	c.913G>T	c.(913-915)Ggc>Tgc	p.G305C		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	305	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						GTAAAGATGCCATAGATCAAA	0.433																																					p.G305C		.											.	SEMA5A-91	0			c.G913T						.						63	62	62					5																	9202086		2203	4300	6503	SO:0001583	missense	9037	exon9			AGATGCCATAGAT	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.913G>T	5.37:g.9202086C>A	ENSP00000371936:p.Gly305Cys	Somatic	259	1		WXS	Illumina GAIIx	Phase_I	269	87	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732384	0.89482	.	.	ENSG00000112902	ENST00000382496	T	0.19394	2.15	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050126	0.85682	D	0.000000	T	0.58308	0.2113	M	0.93808	3.46	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.68652	-0.5352	10	0.87932	D	0	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	305	Q13591	SEM5A_HUMAN	C	305	ENSP00000371936:G305C	ENSP00000371936:G305C	G	-	1	0	SEMA5A	9255086	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.290000	0.78711	2.760000	0.94817	0.655000	0.94253	GGC	.		0.433	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9202086	C	A	9202086	3	1	31	1	0	0	0	0	1	0	0	0	14082	594	21	3	2371	3	SEMA5A	5	9202086	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	47303	9202086	171713174	749	6301											
CTNND2	1501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	11364815	11364815	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctgattacacacctgtgctCgtgcggtaggtgccggtgtg	14	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:11364815C>G	ENST00000304623.8	-	8	1554	c.1365G>C	c.(1363-1365)acG>acC	p.T455T	CTNND2_ENST00000511377.1_Silent_p.T364T|CTNND2_ENST00000359640.2_Silent_p.T455T|CTNND2_ENST00000503622.1_Silent_p.T118T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T22T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	455					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACCTGTGCTCGTGCGGTAGG	0.607																																					p.T455T		.											.	CTNND2-293	0			c.G1365C						.						27	31	30					5																	11364815		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon8			TGTGCTCGTGCGG	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.1365G>C	5.37:g.11364815C>G		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	61	30	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			.		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		G	11364815	C	G	11364815	2	3	31	1	0	0	0	0	0	0	0	1	4029	871	31	2		2	CTNND2	5	11364815	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2162729	11364815	169550445	750	6302											
CTNND2	1501	broad.mit.edu;bcgsc.ca	37	chr5	11397217	11397217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggggtggtttcccccaGggccagggtctggttgctat	16	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:11397217G>A	ENST00000304623.8	-	6	727	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	CTNND2_ENST00000511377.1_Silent_p.L89L|CTNND2_ENST00000359640.2_Silent_p.L180L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	180					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCCCCCAGGGCCAGGGTC	0.612																																					p.L180L		.											.	CTNND2-293	0			c.C538T						.						91	95	94					5																	11397217		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon6			CCCCCAGGGCCAG	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.538C>T	5.37:g.11397217G>A		Somatic	91	2		WXS	Illumina GAIIx	Phase_I	106	35	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			.		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	11397217	G	A	11397217	2	1	31	1	0	0	0	0	0	0	0	1	4029	991	35	3		3	CTNND2	5	11397217	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	32402	11397217	169518043	751	6303											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13753344	13753344	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactaaaacacaaattacctGgagttcatttcggctttctt	5	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:13753344G>A	ENST00000265104.4	-	63	10974	c.10870C>T	c.(10870-10872)Cag>Tag	p.Q3624*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3624	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)					CAAATTACCTGGAGTTCATTT	0.338									Kartagener syndrome																												p.Q3624X		.											.	DNAH5-182	0			c.C10870T						.						51	48	49					5																	13753344		2203	4300	6503	SO:0001587	stop_gained	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTACCTGGAGTTC	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.10870C>T	5.37:g.13753344G>A	ENSP00000265104:p.Gln3624*	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	67	19	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	20.985866	0.99936	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.76	5.76	0.90799	.	0.053929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	X	3624	.	ENSP00000265104:Q3624X	Q	-	1	0	DNAH5	13806344	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.358000	0.97109	2.880000	0.98712	0.650000	0.86243	CAG	.		0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13753344	G	A	13753344	4	1	31	1	0	0	0	0	0	1	0	0	4618	1357	47	3	3072	3	DNAH5	5	13753344	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2356127	13753344	167161916	752	6304											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13841987	13841987	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcgtctcaccctcttgagaGgaaattgacagaattcgatc	8	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:13841987G>C	ENST00000265104.4	-	33	5402	c.5298C>G	c.(5296-5298)tcC>tcG	p.S1766S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1766	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)					CCTCTTGAGAGGAAATTGACA	0.328									Kartagener syndrome																												p.S1766S		.											.	DNAH5-182	0			c.C5298G						.						89	87	88					5																	13841987		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon33	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTGAGAGGAAATT	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.5298C>G	5.37:g.13841987G>C		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	62	24	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13841987	G	C	13841987	2	2	31	1	0	0	0	0	0	0	0	1	4618	987	35	3		3	DNAH5	5	13841987	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	88643	13841987	167073273	753	6305											
FBXL7	23194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	15928111	15928111	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccacctcctcgtcctccatCaccggggagacggtggccat	10	17	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928111C>A	ENST00000504595.1	+	3	721	c.240C>A	c.(238-240)atC>atA	p.I80I	FBXL7_ENST00000329673.7_Silent_p.I68I|FBXL7_ENST00000510662.1_Silent_p.I33I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	80					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGTCCTCCATCACCGGGGAGA	0.662																																					p.I80I		.											.	FBXL7-228	0			c.C240A						.						44	54	51					5																	15928111		2065	4189	6254	SO:0001819	synonymous_variant	23194	exon3			CTCCATCACCGGG	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.240C>A	5.37:g.15928111C>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	115	40	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	CCDS54833.1																																																																																			.		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		A	15928111	C	A	15928111	2	1	31	1	0	0	0	0	0	0	0	1	5746	816	29	3		3	FBXL7	5	15928111	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2086124	15928111	164987149	754	6306											
FBXL7	23194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	15928344	15928344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggctctggaggactatccGcctgacgggcgagaccatca	14	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928344G>T	ENST00000504595.1	+	3	954	c.473G>T	c.(472-474)cGc>cTc	p.R158L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R146L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R111L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	158					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGGACTATCCGCCTGACGGGC	0.652																																					p.R158L		.											.	FBXL7-228	0			c.G473T						.						18	23	21					5																	15928344		2082	4207	6289	SO:0001583	missense	23194	exon3			CTATCCGCCTGAC	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.473G>T	5.37:g.15928344G>T	ENSP00000423630:p.Arg158Leu	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	148	50	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746102	0.69418	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.40225	1.04;1.04;1.04	5.46	5.46	0.80206	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.71036	2.16	0.80722	D	1	P	0.40180	0.705	B	0.37989	0.262	T	0.53878	-0.8376	10	0.56958	D	0.05	.	19.3032	0.94151	0.0:0.0:1.0:0.0	.	158	Q9UJT9	FBXL7_HUMAN	L	158;111;146	ENSP00000423630:R158L;ENSP00000425184:R111L;ENSP00000329632:R146L	ENSP00000329632:R146L	R	+	2	0	FBXL7	15981344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.723000	0.68492	2.576000	0.86940	0.561000	0.74099	CGC	.		0.652	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15928344	G	T	15928344	3	4	31	1	0	0	0	0	1	0	0	0	5746	1087	38	2	483	2	FBXL7	5	15928344	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	233	15928344	164986916	755	6307											
FBXL7	23194	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	15928373	15928373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagaccatcaacgtggacCgcgccctcaaggtgctgacc	12	15	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928373C>T	ENST00000504595.1	+	3	983	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R156C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R121C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	168					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACGTGGACCGCGCCCTCAA	0.662																																					p.R168C		.											.	FBXL7-228	0			c.C502T						.						25	30	28					5																	15928373		2125	4232	6357	SO:0001583	missense	23194	exon3			GTGGACCGCGCCC	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.502C>T	5.37:g.15928373C>T	ENSP00000423630:p.Arg168Cys	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	195	70	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988113	0.74589	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54071	0.59;0.59;0.59	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.58721	0.844	T	0.66248	-0.5971	10	0.59425	D	0.04	.	12.2645	0.54670	0.2874:0.7126:0.0:0.0	.	168	Q9UJT9	FBXL7_HUMAN	C	168;121;156	ENSP00000423630:R168C;ENSP00000425184:R121C;ENSP00000329632:R156C	ENSP00000329632:R156C	R	+	1	0	FBXL7	15981373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.922000	0.63404	2.520000	0.84964	0.561000	0.74099	CGC	.		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15928373	C	T	15928373	3	4	31	1	0	0	0	0	1	0	0	0	5746	652	23	1	512	1	FBXL7	5	15928373	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	29	15928373	164986887	756	6308											
CDH18	1016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	19473645	19473645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggtctgatatccctcCggtacttgagctcctcagca	8	14	3	2	rs140353037		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:19473645C>A	ENST00000507958.1	-	15	3053	c.2063G>T	c.(2062-2064)cGg>cTg	p.R688L	CDH18_ENST00000382275.1_Missense_Mutation_p.R688L|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.R688L			Q13634	CAD18_HUMAN	cadherin 18, type 2	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATATCCCTCCGGTACTTGAG	0.498																																					p.R688L		.											.	CDH18-159	0			c.G2063T						.						165	146	153					5																	19473645		2203	4300	6503	SO:0001583	missense	1016	exon13			TCCCTCCGGTACT	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2063G>T	5.37:g.19473645C>A	ENSP00000425093:p.Arg688Leu	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	157	59	NM_004934	0	0	0	0	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197576	0.94997	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78595	-1.19;-1.19;-1.19	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.73598	2.24	0.58432	D	0.999995	D	0.65815	0.995	D	0.68943	0.961	D	0.86435	0.1763	9	.	.	.	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	688	Q13634	CAD18_HUMAN	L	688	ENSP00000371710:R688L;ENSP00000425093:R688L;ENSP00000274170:R688L	.	R	-	2	0	CDH18	19509402	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	7.813000	0.86123	2.861000	0.98227	0.650000	0.86243	CGG	C|1.000;T|0.000		0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19473645	C	A	19473645	3	1	31	1	0	0	0	0	1	0	0	0	3110	652	23	2	313	2	CDH18	5	19473645	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3545272	19473645	161441615	757	6309											
CDH12	1010	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	21755941	21755941	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcgggtttcaatcccCgctgtgttgtctacaaaaca	7	11	3	0	rs201811162	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21755941C>G	ENST00000382254.1	-	14	2730	c.1644G>C	c.(1642-1644)gcG>gcC	p.A548A	CDH12_ENST00000504376.2_Silent_p.A548A|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.A508A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A548A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCAATCCCCGCTGTGTTGT	0.428										HNSCC(59;0.17)																											p.A548A		.											.	CDH12-92	1	Substitution - coding silent(1)	lung(1)	c.G1644C						.						94	88	90					5																	21755941		2203	4300	6503	SO:0001819	synonymous_variant	1010	exon14			AATCCCCGCTGTG	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.1644G>C	5.37:g.21755941C>G		Somatic	170	1		WXS	Illumina GAIIx	Phase_I	140	42	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																			C|0.999;T|0.001		0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		G	21755941	C	G	21755941	2	3	31	1	0	0	0	0	0	0	0	1	3105	639	23	2		2	CDH12	5	21755941	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2282296	21755941	159159319	758	6310											
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	21783535	21783535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctagtaattcattagtgGcgatggttccttcatttcca	8	8	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21783535G>T	ENST00000382254.1	-	11	2411	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	CDH12_ENST00000504376.2_Missense_Mutation_p.A442D|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.A402D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	442	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)	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						TTCATTAGTGGCGATGGTTCC	0.373										HNSCC(59;0.17)																											p.A442D		.											.	CDH12-92	0			c.C1325A						.						217	210	213					5																	21783535		2203	4300	6503	SO:0001583	missense	1010	exon11			TTAGTGGCGATGG	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.1325C>A	5.37:g.21783535G>T	ENSP00000371689:p.Ala442Asp	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	95	32	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309981	0.60414	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52526	0.66;0.66;0.66	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.048536	0.85682	D	0.000000	T	0.44095	0.1277	N	0.22421	0.69	0.58432	D	0.999998	B;P	0.47484	0.249;0.896	B;P	0.46510	0.281;0.519	T	0.29912	-0.9996	10	0.37606	T	0.19	.	19.4807	0.95008	0.0:0.0:1.0:0.0	.	402;442	B7Z2U6;P55289	.;CAD12_HUMAN	D	442;442;402	ENSP00000423577:A442D;ENSP00000371689:A442D;ENSP00000428786:A402D	ENSP00000371689:A442D	A	-	2	0	CDH12	21819292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.360000	0.97119	2.597000	0.87782	0.655000	0.94253	GCC	.		0.373	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	21783535	G	T	21783535	3	4	31	1	0	0	0	0	1	0	0	0	3105	1203	42	3	1079	3	CDH12	5	21783535	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	27594	21783535	159131725	759	6311											
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	21854885	21854885	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatctgtggccttgacctGgagtacatatgcacctggaa	11	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21854885G>A	ENST00000382254.1	-	7	1627	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q181*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	181	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						GCCTTGACCTGGAGTACATAT	0.418										HNSCC(59;0.17)																											p.Q181X		.											.	CDH12-92	0			c.C541T						.						107	99	102					5																	21854885		2203	4299	6502	SO:0001587	stop_gained	1010	exon7			TGACCTGGAGTAC	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.541C>T	5.37:g.21854885G>A	ENSP00000371689:p.Gln181*	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	172	58	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	45	11.637091	0.99585	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.937	0.92589	0.0:0.0:1.0:0.0	.	.	.	.	X	181	.	ENSP00000371689:Q181X	Q	-	1	0	CDH12	21890642	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.579000	0.82511	2.547000	0.85894	0.650000	0.86243	CAG	.		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21854885	G	A	21854885	4	1	31	1	0	0	0	0	0	1	0	0	3105	1357	47	3	1879	3	CDH12	5	21854885	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	71350	21854885	159060375	760	6312											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggtatggggatgaataCggccaggaactgggcatcaa	15	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361					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.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512										HNSCC(3;0.000094)																											p.Y361X		.											.	PRDM9-139	2	Substitution - Nonsense(2)	lung(2)	c.C1083A						.						126	126	126					5																	23524575		1932	4133	6065	SO:0001587	stop_gained	56979	exon10			TGAATACGGCCAG	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.1083C>A	5.37:g.23524575C>A	ENSP00000296682:p.Tyr361*	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	255	92	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866628	0.51588	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	-8.45	0.00946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1245	14.1838	0.65592	0.0:0.2525:0.0:0.7475	.	.	.	.	X	361;155	.	ENSP00000253473:Y155X	Y	+	3	2	PRDM9	23560332	0.285000	0.24296	0.678000	0.29963	0.068000	0.16541	-1.368000	0.02580	-2.276000	0.00678	-2.771000	0.00119	TAC	.		0.512	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23524575	C	A	23524575	4	1	31	1	0	0	0	0	0	1	0	0	12505	547	19	2	1117	2	PRDM9	5	23524575	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1669690	23524575	157390685	761	6313											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	23526532	23526532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcaatatccagatccacaCagccgtaatgacaaaaccaa	5	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23526532C>A	ENST00000296682.3	+	11	1517	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	445					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						CAGATCCACACAGCCGTAATG	0.478										HNSCC(3;0.000094)																											p.H445Q		.											.	PRDM9-139	0			c.C1335A						.						71	70	70					5																	23526532		2203	4300	6503	SO:0001583	missense	56979	exon11			TCCACACAGCCGT	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.1335C>A	5.37:g.23526532C>A	ENSP00000296682:p.His445Gln	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	113	35	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.171761	0.00315	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08102	3.13	2.71	-1.7	0.08159	.	1.698360	0.03585	N	0.230805	T	0.05135	0.0137	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38478	-0.9659	10	0.15499	T	0.54	3.1939	4.1281	0.10136	0.0:0.4505:0.1783:0.3711	.	445	Q9NQV7	PRDM9_HUMAN	Q	445;239	ENSP00000296682:H445Q	ENSP00000253473:H239Q	H	+	3	2	PRDM9	23562289	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.805000	0.01737	-0.461000	0.06993	0.505000	0.49811	CAC	.		0.478	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23526532	C	A	23526532	3	1	31	1	0	0	0	0	1	0	0	0	12505	477	17	3	1373	3	PRDM9	5	23526532	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1957	23526532	157388728	762	6314											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	23527437	23527437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacacacaggggagaagcCctatgtctgcagggagtgtg	15	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23527437C>A	ENST00000296682.3	+	11	2422	c.2240C>A	c.(2239-2241)cCc>cAc	p.P747H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	747					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.P747Q(1)|p.P747H(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						GGGGAGAAGCCCTATGTCTGC	0.587										HNSCC(3;0.000094)																											p.P747H		.											.	PRDM9-139	2	Substitution - Missense(2)	lung(2)	c.C2240A						.						39	53	49					5																	23527437		2113	4284	6397	SO:0001583	missense	56979	exon11			AGAAGCCCTATGT	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.2240C>A	5.37:g.23527437C>A	ENSP00000296682:p.Pro747His	Somatic	396	0		WXS	Illumina GAIIx	Phase_I	402	128	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693677	0.30052	.	.	ENSG00000164256	ENST00000296682	T	0.29397	1.57	3.0	3.0	0.34707	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57740	0.2074	M	0.88450	2.955	0.30926	N	0.727455	D	0.89917	1.0	D	0.65233	0.933	T	0.64054	-0.6497	9	0.87932	D	0	.	12.1633	0.54115	0.0:1.0:0.0:0.0	.	747	Q9NQV7	PRDM9_HUMAN	H	747	ENSP00000296682:P747H	ENSP00000296682:P747H	P	+	2	0	PRDM9	23563194	0.997000	0.39634	0.992000	0.48379	0.005000	0.04900	4.235000	0.58666	1.973000	0.57446	0.484000	0.47621	CCC	.		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527437	C	A	23527437	3	1	31	1	0	0	0	0	1	0	0	0	12505	623	22	3	2278	3	PRDM9	5	23527437	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	905	23527437	157387823	763	6315											
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	33576158	33576158	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggtaggaaatgtcttaCctcgctccagtttccgacga	11	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33576158C>A	ENST00000504830.1	-	19	4308		c.e19+1		ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAATGTCTTACCTCGCTCCAG	0.418										HNSCC(64;0.19)																											.		.											.	ADAMTS12-232	0			c.3972+1G>T						.						73	73	73					5																	33576158		2203	4300	6503	SO:0001630	splice_region_variant	81792	exon20			GTCTTACCTCGCT	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3972+1G>T	5.37:g.33576158C>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	95	36	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601139	0.66332	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33611915	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	4.805000	0.62561	2.653000	0.90120	0.655000	0.94253	.	.		0.418	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	A	33576158	C	A	33576158	5	1	31	1	0	0	0	0	0	0	1	0	257	521	18	3	835	3	ADAMTS12	5	33576158	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	10048721	33576158	147339102	764	6316											
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	33576501	33576501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactgtgctgaagggtggCcaccaggactccctgctgag	13	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33576501C>T	ENST00000504830.1	-	19	3965	c.3630G>A	c.(3628-3630)tgG>tgA	p.W1210*	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1125*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1210	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAAGGGTGGCCACCAGGACT	0.537										HNSCC(64;0.19)																											p.W1210X		.											.	ADAMTS12-232	0			c.G3630A						.						162	153	156					5																	33576501		2203	4300	6503	SO:0001587	stop_gained	81792	exon19			GGGTGGCCACCAG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3630G>A	5.37:g.33576501C>T	ENSP00000422554:p.Trp1210*	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	210	81	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	39	7.419319	0.98272	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.07	5.07	0.68467	.	0.980375	0.08414	N	0.949422	.	.	.	.	.	.	0.28201	N	0.927356	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.3163	0.60409	0.0:0.8413:0.1587:0.0	.	.	.	.	X	1210;1125	.	ENSP00000344847:W1125X	W	-	3	0	ADAMTS12	33612258	0.001000	0.12720	0.025000	0.17156	0.068000	0.16541	1.325000	0.33724	2.628000	0.89032	0.655000	0.94253	TGG	.		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33576501	C	T	33576501	4	4	31	1	0	0	0	0	0	1	0	0	257	740	26	3	1178	3	ADAMTS12	5	33576501	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	343	33576501	147338759	765	6317											
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	33658359	33658359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgatgttacaactgcGgtgaggctgacacattcctg	10	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33658359G>T	ENST00000504830.1	-	7	1455	c.1120C>A	c.(1120-1122)Cgc>Agc	p.R374S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R374S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	374	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R374S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTACAACTGCGGTGAGGCTGA	0.507										HNSCC(64;0.19)																											p.R374S		.											.	ADAMTS12-232	1	Substitution - Missense(1)	lung(1)	c.C1120A						.						144	144	144					5																	33658359		2203	4300	6503	SO:0001583	missense	81792	exon7			AACTGCGGTGAGG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1120C>A	5.37:g.33658359G>T	ENSP00000422554:p.Arg374Ser	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	224	80	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338048	0.81911	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87334	-2.24;-2.24	6.17	5.28	0.74379	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.103576	0.64402	D	0.000004	D	0.92195	0.7525	M	0.65677	2.01	0.80722	D	1	P;D	0.71674	0.943;0.998	P;D	0.72338	0.706;0.977	D	0.92838	0.6286	10	0.72032	D	0.01	.	14.2657	0.66116	0.0:0.0:0.6053:0.3947	.	374;374	P58397-3;P58397	.;ATS12_HUMAN	S	374	ENSP00000422554:R374S;ENSP00000344847:R374S	ENSP00000344847:R374S	R	-	1	0	ADAMTS12	33694116	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	3.160000	0.50739	1.564000	0.49628	0.655000	0.94253	CGC	.		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33658359	G	T	33658359	3	4	31	1	0	0	0	0	1	0	0	0	257	1116	39	2	3736	2	ADAMTS12	5	33658359	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	81858	33658359	147256901	766	6318											
ADAMTS12	81792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	33751563	33751563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttctgcctcctgtaaaCgatgtgcgggtggtaccctc	10	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33751563C>A	ENST00000504830.1	-	3	915	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.V194F|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V194F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	194					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCTGTAAACGATGTGCGGG	0.458										HNSCC(64;0.19)																											p.V194F		.											.	ADAMTS12-232	0			c.G580T						.						151	148	149					5																	33751563		2203	4300	6503	SO:0001583	missense	81792	exon3			TGTAAACGATGTG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.580G>T	5.37:g.33751563C>A	ENSP00000422554:p.Val194Phe	Somatic	235	1		WXS	Illumina GAIIx	Phase_I	223	80	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386958	0.42308	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.10382	2.88;2.88;2.88	5.8	-8.86	0.00795	Peptidase M12B, propeptide (1);	1.080700	0.07024	N	0.827238	T	0.25494	0.0620	M	0.66939	2.045	0.20703	N	0.999869	P;P;P	0.52316	0.878;0.624;0.952	P;P;P	0.59115	0.464;0.476;0.852	T	0.53620	-0.8413	10	0.87932	D	0	.	18.004	0.89204	0.0:0.1325:0.0:0.8675	.	194;194;194	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	F	194	ENSP00000422554:V194F;ENSP00000344847:V194F;ENSP00000421638:V194F	ENSP00000344847:V194F	V	-	1	0	ADAMTS12	33787320	0.527000	0.26306	0.003000	0.11579	0.133000	0.20885	-0.852000	0.04308	-2.225000	0.00724	-0.244000	0.11960	GTT	.		0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33751563	C	A	33751563	3	1	31	1	0	0	0	0	1	0	0	0	257	536	19	2	4292	2	ADAMTS12	5	33751563	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	93204	33751563	147163697	767	6319											
RXFP3	51289	hgsc.bcm.edu;mdanderson.org	37	chr5	33938186	33938186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagccggacctgctctaCtacccacctggcgtcgtggt	13	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33938186C>T	ENST00000330120.3	+	1	1696	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCTGCTCTACTACCCACCTG	0.736																																					p.Y447Y		.											.	RXFP3-91	0			c.C1341T						.						14	17	16					5																	33938186		2167	4239	6406	SO:0001819	synonymous_variant	51289	exon1			GCTCTACTACCCA	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1341C>T	5.37:g.33938186C>T		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	78	28	NM_016568	0	0	0	0	0	Q14DA5	Silent	SNP	ENST00000330120.3	37	CCDS3900.1																																																																																			.		0.736	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		T	33938186	C	T	33938186	2	4	31	1	0	0	0	0	0	0	0	1	13806	576	20	3		3	RXFP3	5	33938186	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	186623	33938186	146977074	768	6320											
UGT3A1	133688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	35968210	35968210	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaccacctgataacttgGtatgatttttcctcctcttt	5	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:35968210G>C	ENST00000274278.3	-	3	579	c.222C>G	c.(220-222)taC>taG	p.Y74*	UGT3A1_ENST00000333811.4_Nonsense_Mutation_p.Y20*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.Y74*|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.Y40*|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	74						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)			TGATAACTTGGTATGATTTTT	0.303																																					p.Y74X		.											.	UGT3A1-92	0			c.C222G						.						81	82	82					5																	35968210		2203	4297	6500	SO:0001587	stop_gained	133688	exon3			AACTTGGTATGAT		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.222C>G	5.37:g.35968210G>C	ENSP00000274278:p.Tyr74*	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	67	25	NM_152404	0	0	0	0	0	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Nonsense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329449	0.95733	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	.	.	.	2.7	1.79	0.24919	.	1.986640	0.04856	U	0.443196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	6.2128	0.20638	0.1629:0.0:0.8371:0.0	.	.	.	.	X	74;74;40;20	.	ENSP00000274278:Y74X	Y	-	3	2	UGT3A1	36003967	0.000000	0.05858	0.006000	0.13384	0.543000	0.35085	-0.881000	0.04179	0.399000	0.25367	0.455000	0.32223	TAC	.		0.303	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		C	35968210	G	C	35968210	4	2	31	1	0	0	0	0	0	1	0	0	17012	1256	44	3	1451	3	UGT3A1	5	35968210	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2030024	35968210	144947050	769	6321											
NIPBL	25836	broad.mit.edu	37	chr5	37000491	37000491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagcctctaggaaacgacaTaaaaaagatgatgataaagc	8	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:37000491T>C	ENST00000282516.8	+	12	3820	c.3321T>C	c.(3319-3321)caT>caC	p.H1107H	NIPBL_ENST00000448238.2_Silent_p.H1107H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1107					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)			GGAAACGACATAAAAAAGATG	0.383																																					p.H1107H		.											.	NIPBL-293	0			c.T3321C						.						90	92	91					5																	37000491		2203	4300	6503	SO:0001819	synonymous_variant	25836	exon12			ACGACATAAAAAA	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.3321T>C	5.37:g.37000491T>C		Somatic	94	1		WXS	Illumina GAIIx	Phase_I	81	10	NM_015384	0	0	0	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																			.		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		C	37000491	T	C	37000491	2	2	31	1	0	0	0	0	0	0	0	1	10467	1403	49	4		4	NIPBL	5	37000491	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1032281	37000491	143914769	770	6322											
C5orf42	65250	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	37107729	37107729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtccagggcccagtggacaGacaggccctggtcctccacg	14	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:37107729G>C	ENST00000508244.1	-	51	9662	c.9569C>G	c.(9568-9570)tCt>tGt	p.S3190C	C5orf42_ENST00000274258.7_Missense_Mutation_p.S2088C|C5orf42_ENST00000425232.2_Missense_Mutation_p.S3190C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3190						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAGTGGACAGACAGGCCCTG	0.547																																					p.S3190C		.											.	C5orf42-94	0			c.C9569G						.						41	33	36					5																	37107729		2203	4300	6503	SO:0001583	missense	65250	exon52			TGGACAGACAGGC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9569C>G	5.37:g.37107729G>C	ENSP00000421690:p.Ser3190Cys	Somatic	262	1		WXS	Illumina GAIIx	Phase_I	348	55	NM_023073	0	0	0	0	0	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230393	0.79688	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.28	2.39	0.29439	.	0.368951	0.22894	N	0.054349	T	0.54743	0.1877	L	0.59436	1.845	0.09310	N	1	B;D	0.71674	0.02;0.998	B;P	0.61874	0.025;0.895	T	0.41822	-0.9487	10	0.87932	D	0	.	4.9605	0.14063	0.1845:0.1744:0.6411:0.0	.	3190;2088	E9PH94;Q9H799	.;CE042_HUMAN	C	3190;3190;2088;2256	ENSP00000421690:S3190C;ENSP00000389014:S3190C;ENSP00000274258:S2088C;ENSP00000424223:S2256C	ENSP00000274258:S2088C	S	-	2	0	C5orf42	37143486	0.001000	0.12720	0.029000	0.17559	0.663000	0.39108	0.595000	0.24029	0.926000	0.37118	-0.140000	0.14226	TCT	.		0.547	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37107729	G	C	37107729	3	2	31	1	0	0	0	0	1	0	0	0	2308	942	33	3	28	3	C5orf42	5	37107729	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	107238	37107729	143807531	771	6323											
EGFLAM	133584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	38418309	38418309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtgaatgggaggagaattGacatgaggccctggcccctg	15	9	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:38418309G>C	ENST00000354891.3	+	12	1982	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D312H|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D546H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	546	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.			D -> G (in Ref. 2; CAH56137). {ECO:0000305}.	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)					GAGGAGAATTGACATGAGGCC	0.562																																					p.D546H	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.G1636C						.						85	90	89					5																	38418309		2203	4300	6503	SO:0001583	missense	133584	exon12			AGAATTGACATGA	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.1636G>C	5.37:g.38418309G>C	ENSP00000346964:p.Asp546His	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	227	32	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402595	0.83230	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.83075	-1.68;-1.68;-1.68	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.75615	2.305	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.87578	0.994;0.998;0.655	D	0.91397	0.5140	10	0.66056	D	0.02	-34.9614	20.0015	0.97412	0.0:0.0:1.0:0.0	.	312;546;546	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	546;546;312;312	ENSP00000346964:D546H;ENSP00000313084:D546H;ENSP00000337607:D312H	ENSP00000313084:D546H	D	+	1	0	EGFLAM	38454066	1.000000	0.71417	0.974000	0.42286	0.703000	0.40648	9.429000	0.97481	2.718000	0.92993	0.557000	0.71058	GAC	.		0.562	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38418309	G	C	38418309	3	2	31	1	0	0	0	0	1	0	0	0	4980	1290	45	3	1696	3	EGFLAM	5	38418309	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1310580	38418309	142496951	772	6324											
OSMR	9180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	38881777	38881777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctttggaatgtgccacacActttgtaagaataaagagtt	8	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:38881777A>T	ENST00000274276.3	+	4	731	c.329A>T	c.(328-330)cAc>cTc	p.H110L	OSMR_ENST00000502536.1_Missense_Mutation_p.H110L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	110					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGTGCCACACACTTTGTAAGA	0.468																																					p.H110L		.											.	OSMR-496	0			c.A329T						.						108	105	106					5																	38881777		2203	4300	6503	SO:0001583	missense	9180	exon4			CCACACACTTTGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.329A>T	5.37:g.38881777A>T	ENSP00000274276:p.His110Leu	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	111	46	NM_001168355	0	0	0	0	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478199	0.63849	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64438	-0.1;-0.1	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.74881	2.28	0.47584	D	0.999463	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79308	-0.1857	10	0.54805	T	0.06	.	12.5437	0.56186	1.0:0.0:0.0:0.0	.	110;110	Q99650;Q99650-2	OSMR_HUMAN;.	L	110	ENSP00000422023:H110L;ENSP00000274276:H110L	ENSP00000274276:H110L	H	+	2	0	OSMR	38917534	1.000000	0.71417	0.963000	0.40424	0.267000	0.26476	5.050000	0.64251	2.216000	0.71823	0.533000	0.62120	CAC	.		0.468	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		T	38881777	A	T	38881777	3	4	31	1	0	0	0	0	1	0	0	0	11331	159	6	5	339	5	OSMR	5	38881777	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	463468	38881777	142033483	773	6325											
FYB	2533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	39202214	39202215	+	Frame_Shift_Ins	INS	-	-	T													catctatcttcctatcttccINStttttttcttcaccattttt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:39202214_39202215insT	ENST00000351578.6	-	2	1038_1039	c.848_849insA	c.(847-849)aagfs	p.K283fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.K283fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.K283fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.K293fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.K283fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	283					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCCTATCTTCCTTTTTTTCTTC	0.5																																					p.K293fs		.											.	FYB-24	0			c.879_880insA						.																																			SO:0001589	frameshift_variant	2533	exon2			ATCTTCCTTTTTT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.849dupA	5.37:g.39202221_39202221dupT	ENSP00000316460:p.Lys283fs	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	67	20	NM_001243093	0	0	0	0	0	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	CCDS47200.1																																																																																			.		0.5	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39202215	-	T	39202214	7	5	31	1	0	1	1	0	0	0	0	0	6148	680	24	0	1712	0	FYB	5	39202214	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	320437	39202214	141713046	774	6326											
C9	735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	39308382	39308382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catctttattaaattcagctCcaacagagatttcagagaaa	5	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:39308382C>A	ENST00000263408.4	-	8	1285	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	397	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.G397V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAATTCAGCTCCAACAGAGAT	0.383																																					p.G397V		.											.	C9-90	1	Substitution - Missense(1)	large_intestine(1)	c.G1190T						.						131	127	128					5																	39308382		2203	4300	6503	SO:0001583	missense	735	exon8			TCAGCTCCAACAG		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1190G>T	5.37:g.39308382C>A	ENSP00000263408:p.Gly397Val	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	223	77	NM_001737	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824601	0.16678	.	.	ENSG00000113600	ENST00000263408	T	0.32272	1.46	4.73	-9.46	0.00597	Membrane attack complex component/perforin (MACPF) domain (3);	2.344480	0.01281	N	0.009724	T	0.23249	0.0562	L	0.38175	1.15	0.09310	N	1	B	0.27416	0.178	B	0.28385	0.089	T	0.08700	-1.0709	10	0.35671	T	0.21	-0.4345	11.0625	0.47955	0.0:0.2029:0.1102:0.6869	.	397	P02748	CO9_HUMAN	V	397	ENSP00000263408:G397V	ENSP00000263408:G397V	G	-	2	0	C9	39344139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.431000	0.02432	-2.845000	0.00333	-0.482000	0.04802	GGA	.		0.383	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			A	39308382	C	A	39308382	3	1	31	1	0	0	0	0	1	0	0	0	2450	855	30	3	505	3	C9	5	39308382	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	106168	39308382	141606878	775	6327											
PTGER4	5734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	40692043	40692043	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaaagcaatagagaagAtcaaatgcctcttctgccgc	8	10	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:40692043A>T	ENST00000302472.3	+	3	2054	c.1030A>T	c.(1030-1032)Atc>Ttc	p.I344F		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	344					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)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	AATAGAGAAGATCAAATGCCT	0.527																																					p.I344F		.											.	PTGER4-658	0			c.A1030T						.						71	75	74					5																	40692043		2203	4300	6503	SO:0001583	missense	5734	exon3			GAGAAGATCAAAT	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.1030A>T	5.37:g.40692043A>T	ENSP00000302846:p.Ile344Phe	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	167	61	NM_000958	0	0	0	0	0	Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865593	0.71949	.	.	ENSG00000171522	ENST00000302472	T	0.34667	1.35	5.55	3.2	0.36748	.	0.060214	0.64402	D	0.000001	T	0.49184	0.1542	M	0.68952	2.095	0.58432	D	0.999997	D	0.63046	0.992	P	0.59357	0.856	T	0.41016	-0.9532	10	0.49607	T	0.09	-21.5227	8.5943	0.33705	0.7824:0.0:0.2176:0.0	.	344	P35408	PE2R4_HUMAN	F	344	ENSP00000302846:I344F	ENSP00000302846:I344F	I	+	1	0	PTGER4	40727800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.956000	0.49129	0.419000	0.25927	0.383000	0.25322	ATC	.		0.527	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		T	40692043	A	T	40692043	3	4	31	1	0	0	0	0	1	0	0	0	12788	333	12	5	1036	5	PTGER4	5	40692043	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1383661	40692043	140223217	776	6328											
CARD6	84674	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	40841514	40841514	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagagtactccctcagagatCatagaaagagaaagaaaaaa	9	6	2	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:40841514C>G	ENST00000254691.5	+	1	229	c.30C>G	c.(28-30)atC>atG	p.I10M	CARD6_ENST00000381677.3_Missense_Mutation_p.I10M	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	10	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						CCTCAGAGATCATAGAAAGAG	0.353																																					p.I10M		.											.	CARD6-230	0			c.C30G						.						54	56	55					5																	40841514		2203	4300	6503	SO:0001583	missense	84674	exon1			AGAGATCATAGAA	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.30C>G	5.37:g.40841514C>G	ENSP00000254691:p.Ile10Met	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	53	21	NM_032587	0	0	0	0	0	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546268	0.45383	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.20332	2.08;2.08	4.97	1.14	0.20703	DEATH-like (2);Caspase Recruitment (3);	0.110508	0.39544	N	0.001337	T	0.33847	0.0877	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.05241	-1.0897	10	0.72032	D	0.01	-6.6815	7.2089	0.25923	0.0:0.6237:0.0:0.3763	.	10	Q9BX69	CARD6_HUMAN	M	10	ENSP00000254691:I10M;ENSP00000371093:I10M	ENSP00000254691:I10M	I	+	3	3	CARD6	40877271	0.982000	0.34865	0.026000	0.17262	0.912000	0.54170	0.062000	0.14389	0.293000	0.22520	0.563000	0.77884	ATC	.		0.353	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			G	40841514	C	G	40841514	3	3	31	1	0	0	0	0	1	0	0	0	2657	816	29	3	32	3	CARD6	5	40841514	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	149471	40841514	140073746	777	6329											
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	45262200	45262201	+	Missense_Mutation	DNP	CC	CC	AA													acgcgctgcgggacagtgctCctgccccctgcctgaaggcc					rs199887416|rs267600644		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:45262200_45262201CC>AA	ENST00000303230.4	-	8	2552_2553	c.2495_2496GG>TT	c.(2494-2496)aGG>aTT	p.R832I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	832					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R832S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGACAGTGCTCCTGCCCCCTGC	0.673																																					p.R832I		.											.	HCN1-91	1	Substitution - Missense(1)	lung(1)	c.G2495T						.																																			SO:0001583	missense	348980	exon8			GTGCTCCTGCCCC	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.2495_2496delinsAA	5.37:g.45262200_45262201delinsAA	ENSP00000307342:p.Arg832Ile	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	70	7	NM_021072	0	0	0	0	0		Missense_Mutation	DNP	ENST00000303230.4	37	CCDS3952.1																																																																																			C|0.999;G|0.000		0.673	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		AA	45262201	CC	AA	45262200	3	1	31	1	0	0	0	0	1	0	0	0	7023	854	30	3	180	3	HCN1	5	45262200	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	4420686	45262200	135653060	778	6330											
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	45353216	45353216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttacctctctcagaggatCattgagttcattgagaatat	7	8	5	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:45353216C>A	ENST00000303230.4	-	5	1420	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	455					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						CTCAGAGGATCATTGAGTTCA	0.348																																					p.D455Y		.											.	HCN1-91	0			c.G1363T						.						122	112	115					5																	45353216		2203	4296	6499	SO:0001583	missense	348980	exon5			GAGGATCATTGAG	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.1363G>T	5.37:g.45353216C>A	ENSP00000307342:p.Asp455Tyr	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	62	23	NM_021072	0	0	0	0	0		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447969	0.84101	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.95191	0.8441	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.46659	0.523	D	0.95387	0.8478	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	455	O60741	HCN1_HUMAN	Y	455	ENSP00000307342:D455Y	ENSP00000307342:D455Y	D	-	1	0	HCN1	45388973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	GAT	.		0.348	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45353216	C	A	45353216	3	1	31	1	0	0	0	0	1	0	0	0	7023	826	29	3	1325	3	HCN1	5	45353216	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	91016	45353216	135562044	779	6331											
ITGA2	3673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	52368469	52368469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaaagactgtggtgaGgacggactttgcatttctga	11	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:52368469G>T	ENST00000296585.5	+	19	2516	c.2373G>T	c.(2371-2373)gaG>gaT	p.E791D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	791					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGTGGTGAGGACGGACTTT	0.353																																					p.E791D		.											.	ITGA2-226	0			c.G2373T						.						85	75	78					5																	52368469		2202	4300	6502	SO:0001583	missense	3673	exon19			TGGTGAGGACGGA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2373G>T	5.37:g.52368469G>T	ENSP00000296585:p.Glu791Asp	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	50	10	NM_002203	0	0	0	0	0	Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.685006	0.14973	.	.	ENSG00000164171	ENST00000296585	T	0.48836	0.8	5.66	-8.57	0.00900	Integrin alpha-2 (1);	0.674988	0.15619	N	0.252987	T	0.11067	0.0270	N	0.01352	-0.895	0.20489	N	0.999896	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.17531	-1.0366	10	0.22706	T	0.39	.	2.8688	0.05610	0.2098:0.4041:0.1595:0.2266	.	791;791	E7ESP4;P17301	.;ITA2_HUMAN	D	791	ENSP00000296585:E791D	ENSP00000296585:E791D	E	+	3	2	ITGA2	52404226	0.005000	0.15991	0.300000	0.25030	0.667000	0.39255	-1.079000	0.03410	-1.200000	0.02662	-0.457000	0.05445	GAG	.		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52368469	G	T	52368469	3	4	31	1	0	0	0	0	1	0	0	0	7902	991	35	3	2447	3	ITGA2	5	52368469	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7015253	52368469	128546791	780	6332											
CDC20B	166979	bcgsc.ca	37	chr5	54410099	54410099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagcagaaaacacccGggtctggtctggactcaaag	12	11	3	1	rs444527	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:54410099G>A	ENST00000381375.2	-	12	1652	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	CDC20B_ENST00000322374.6_Missense_Mutation_p.R461W|CDC20B_ENST00000296733.1_Missense_Mutation_p.R499W|CDC20B_ENST00000334206.5_3'UTR			Q86Y33	CD20B_HUMAN	cell division cycle 20B	503			R -> W (in dbSNP:rs444527). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.					p.R499W(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			gaaaacacccgggtctggtct	0.537													G|||	849	0.169529	0.0401	0.147	5008	,	,		17932	0.1865		0.2127	False		,,,				2504	0.2986				p.R503W		.											.	CDC20B-90	1	Substitution - Missense(1)	stomach(1)	c.C1507T						.	G	TRP/ARG,TRP/ARG,TRP/ARG	270,4136	154.4+/-187.8	13,244,1946	96	90	92		1381,1507,1495	1.7	0.3	5	dbSNP_80	92	1642,6958	303.4+/-306.4	161,1320,2819	yes	missense,missense,missense	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	101,101,101	174,1564,4765	AA,AG,GG		19.093,6.128,14.7009	probably-damaging,probably-damaging,probably-damaging	461/478,503/520,499/516	54410099	1912,11094	2203	4300	6503	SO:0001583	missense	166979	exon12			ACACCCGGGTCTG	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1507C>T	5.37:g.54410099G>A	ENSP00000370781:p.Arg503Trp	Somatic	255	3		WXS	Illumina GAIIx	Phase_I	257	8	NM_001170402	0	0	0	0	0	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	339	0.15521978021978022	23	0.046747967479674794	59	0.16298342541436464	91	0.1590909090909091	166	0.21899736147757257	G	15.65	2.897041	0.52121	0.06128	0.19093	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.60548	0.18;0.18;0.18	3.73	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.521154	0.14995	N	0.286491	T	0.00039	0.0001	L	0.27975	0.815	0.58432	P	4.000000000004E-6	D;D;D	0.65815	0.993;0.995;0.986	P;P;P	0.58520	0.752;0.84;0.636	T	0.04961	-1.0915	9	0.72032	D	0.01	-18.0434	4.2399	0.10643	0.123:0.0:0.6533:0.2237	rs444527;rs17839390;rs59073991;rs444527	461;503;499	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	W	499;503;461	ENSP00000296733:R499W;ENSP00000370781:R503W;ENSP00000315720:R461W	ENSP00000296733:R499W	R	-	1	2	CDC20B	54445856	0.057000	0.20700	0.334000	0.25495	0.958000	0.62258	0.257000	0.18369	0.876000	0.35872	0.563000	0.77884	CGG	G|0.861;A|0.139		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		A	54410099	G	A	54410099	3	1	31	1	0	0	0	0	1	0	0	0	3067	1115	39	1	56	1	CDC20B	5	54410099	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2041630	54410099	126505161	781	6333											
GPX8	493869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	54457048	54457048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccacaagattaagattctagGatctgaaggagaacctgcat	9	8	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:54457048G>T	ENST00000503787.1	+	2	506	c.431G>T	c.(430-432)gGa>gTa	p.G144V	CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.G93V|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	144					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AAGATTCTAGGATCTGAAGGA	0.378																																					p.G144V		.											.	GPX8-68	0			c.G431T						.						76	84	81					5																	54457048		2203	4300	6503	SO:0001583	missense	493869	exon2			TTCTAGGATCTGA	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.431G>T	5.37:g.54457048G>T	ENSP00000423822:p.Gly144Val	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	36	9	NM_001008397	0	0	0	0	0		Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774660	0.90108	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.33865	1.39;1.39	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88575	0.3132	10	0.87932	D	0	.	19.337	0.94324	0.0:0.0:1.0:0.0	.	93;144	E7ETY7;Q8TED1	.;GPX8_HUMAN	V	144;93	ENSP00000423822:G144V;ENSP00000427466:G93V	ENSP00000423822:G144V	G	+	2	0	GPX8	54492805	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.467000	0.97671	2.574000	0.86865	0.655000	0.94253	GGA	.		0.378	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		T	54457048	G	T	54457048	3	4	31	1	0	0	0	0	1	0	0	0	6773	1174	41	3	437	3	GPX8	5	54457048	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	46949	54457048	126458212	782	6334											
ACTBL2	345651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56778494	56778494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttgcacatccctgacCcattatccactaccaaggca	5	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:56778494C>T	ENST00000423391.1	-	1	142	c.41G>A	c.(40-42)gGg>gAg	p.G14E	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATCCCTGACCCATTATCCAC	0.552																																					p.G14E		.											.	ACTBL2-25	0			c.G41A						.						81	59	66					5																	56778494		2203	4300	6503	SO:0001583	missense	345651	exon1			CCTGACCCATTAT		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.41G>A	5.37:g.56778494C>T	ENSP00000416706:p.Gly14Glu	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	160	72	NM_001017992	0	0	0	0	0	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077815	0.55753	.	.	ENSG00000169067	ENST00000423391	D	0.99906	-7.73	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	D	0.99957	0.9982	H	0.99990	5.32	0.58432	D	0.999999	D	0.63046	0.992	D	0.79108	0.992	D	0.96038	0.9022	10	0.87932	D	0	.	16.1712	0.81817	0.0:1.0:0.0:0.0	.	14	Q562R1	ACTBL_HUMAN	E	14	ENSP00000416706:G14E	ENSP00000416706:G14E	G	-	2	0	ACTBL2	56814251	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.563000	0.82314	2.669000	0.90835	0.563000	0.77884	GGG	.		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56778494	C	T	56778494	3	4	31	1	0	0	0	0	1	0	0	0	194	623	22	3	1093	3	ACTBL2	5	56778494	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2321446	56778494	124136766	783	6335											
PDE4D	5144	ucsc.edu;bcgsc.ca	37	chr5	58270494	58270494	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagtttttgcactgttaCgtgtcaggagaacgatcatc	10	7	2	2	rs7736186	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:58270494C>A	ENST00000340635.6	-	15	2602	c.2427G>T	c.(2425-2427)acG>acT	p.T809T	PDE4D_ENST00000405755.2_Silent_p.T687T|PDE4D_ENST00000360047.5_Silent_p.T673T|PDE4D_ENST00000546160.1_Silent_p.T748T|PDE4D_ENST00000507116.1_Silent_p.T745T|PDE4D_ENST00000317118.8_Silent_p.T518T|PDE4D_ENST00000503258.1_Silent_p.T679T|PDE4D_ENST00000502484.2_Silent_p.T748T|PDE4D_ENST00000358923.6_Silent_p.T507T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	809					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGCACTGTTACGTGTCAGGAG	0.438																																					p.T809T		.											.	PDE4D-226	0			c.G2427T						.						154	150	151					5																	58270494		1913	4133	6046	SO:0001819	synonymous_variant	5144	exon15			CTGTTACGTGTCA		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2427G>T	5.37:g.58270494C>A		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	62	9	NM_001104631	0	0	0	0	0	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	CCDS47213.1																																																																																			C|0.986;T|0.014		0.438	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			A	58270494	C	A	58270494	2	1	31	1	0	0	0	0	0	0	0	1	11681	523	19	2		2	PDE4D	5	58270494	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1492000	58270494	122644766	784	6336											
ADAMTS6	11174	hgsc.bcm.edu;bcgsc.ca	37	chr5	64483914	64483914	+	5'UTR	DEL	G	G	-													gggctctttttcgacaggccGgtgtgttaaacaaccactgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64483914delG	ENST00000314351.5	-	0	498							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCGACAGGCCGGTGTGTTAAA	0.522																																					p.R947fs		.											.	ADAMTS6-226	0			c.2839delC						.						163	152	155					5																	64483914		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174	exon22			CAGGCCGGTGTGT	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-824C>-	5.37:g.64483914delG		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	98	23	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Frame_Shift_Del	DEL	ENST00000314351.5	37																																																																																				.		0.522	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		-	64483914	G	-	64483914	6	5	31	0	1	1	0	1	0	0	0	0	270	1115	39	0		0	ADAMTS6	5	64483914	5'UTR	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	6213420	64483914	116431346	785	6337											
ADAMTS6	11174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	64747376	64747376	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttccatcactttggtgggaGagaatggatttctgccattt	10	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64747376G>C	ENST00000536360.1	-	7	1812	c.999C>G	c.(997-999)ctC>ctG	p.L333L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTTGGTGGGAGAGAATGGATT	0.418																																					p.L333L		.											.	ADAMTS6-226	0			c.C999G						.						195	174	181					5																	64747376		2203	4300	6503	SO:0001819	synonymous_variant	11174	exon7			GTGGGAGAGAATG	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.999C>G	5.37:g.64747376G>C		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	248	26	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																				.		0.418	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		C	64747376	G	C	64747376	2	2	31	1	0	0	0	0	0	0	0	1	270	929	33	3		3	ADAMTS6	5	64747376	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	263462	64747376	116167884	786	6338											
ADAMTS6	11174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	64755998	64755998	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcacactcactcaccCgaaaccccacaatgagagtg	7	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64755998C>A	ENST00000536360.1	-	4	1443	c.630G>T	c.(628-630)tcG>tcT	p.S210S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	210						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTCACTCACCCGAAACCCCAC	0.403																																					p.S210S		.											.	ADAMTS6-226	0			c.G630T						.						136	131	133					5																	64755998		2203	4300	6503	SO:0001630	splice_region_variant	11174	exon4			CTCACCCGAAACC	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.631+1G>T	5.37:g.64755998C>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	81	21	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																				.		0.403	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Silent	A	64755998	C	A	64755998	5	1	31	1	0	0	0	0	0	0	1	0	270	666	23	2	2811	2	ADAMTS6	5	64755998	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8622	64755998	116159262	787	6339											
TNPO1	3842	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	72199544	72199545	+	Frame_Shift_Ins	INS	-	-	T													gcttgttacaggattttataINStttttttgtgatgccgttgc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:72199544_72199545insT	ENST00000337273.5	+	23	2949_2950	c.2523_2524insT	c.(2524-2526)tttfs	p.F842fs	TNPO1_ENST00000454282.1_Frame_Shift_Ins_p.F792fs|TNPO1_ENST00000506351.2_Frame_Shift_Ins_p.F834fs|TNPO1_ENST00000523768.1_Frame_Shift_Ins_p.F792fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	842					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.C836fs*45(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AGGATTTTATATTTTTTTGTGA	0.317																																					p.I841fs		.											.	TNPO1-228	1	Deletion - Frameshift(1)	large_intestine(1)	c.2523_2524insT						.																																			SO:0001589	frameshift_variant	3842	exon23			TTTTATATTTTTT	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2530dupT	5.37:g.72199551_72199551dupT	ENSP00000336712:p.Phe842fs	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	46	24	NM_002270	0	0	0	0	0	B4DVC6|Q92957|Q92975	Frame_Shift_Ins	INS	ENST00000337273.5	37	CCDS43329.1																																																																																			.		0.317	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		T	72199545	-	T	72199544	7	5	31	1	0	1	1	0	0	0	0	0	16382	439	16	0	2613	0	TNPO1	5	72199544	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	7443546	72199544	108715716	788	6340											
F2RL1	2150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	76129178	76129178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctctctggccattgGggtctttctgttcccagcct	8	15	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:76129178G>T	ENST00000296677.4	+	2	952	c.746G>T	c.(745-747)gGg>gTg	p.G249V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	249					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)		CTGGCCATTGGGGTCTTTCTG	0.488																																					p.G249V		.											.	F2RL1-226	0			c.G746T						.						94	86	89					5																	76129178		2203	4300	6503	SO:0001583	missense	2150	exon2			CCATTGGGGTCTT	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.746G>T	5.37:g.76129178G>T	ENSP00000296677:p.Gly249Val	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	159	37	NM_005242	0	0	0	0	0	Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620997	0.14193	.	.	ENSG00000164251	ENST00000296677	T	0.34275	1.37	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.051640	0.85682	D	0.000000	T	0.20455	0.0492	N	0.03000	-0.44	0.80722	D	1	P	0.44776	0.843	B	0.40659	0.336	T	0.12785	-1.0534	9	.	.	.	-11.822	19.9067	0.97010	0.0:0.0:1.0:0.0	.	249	P55085	PAR2_HUMAN	V	249	ENSP00000296677:G249V	.	G	+	2	0	F2RL1	76164934	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	7.015000	0.76387	2.703000	0.92315	0.655000	0.94253	GGG	.		0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			T	76129178	G	T	76129178	3	4	31	1	0	0	0	0	1	0	0	0	5360	1232	43	3	752	3	F2RL1	5	76129178	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3929634	76129178	104786082	789	6341											
S100Z	170591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	76173537	76173537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttgataagatagtgcaGgacctggatgccaataagga	13	5	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:76173537G>T	ENST00000317593.4	+	4	412	c.180G>T	c.(178-180)caG>caT	p.Q60H	S100Z_ENST00000513010.1_Missense_Mutation_p.Q60H	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AGATAGTGCAGGACCTGGATG	0.398																																					p.Q60H		.											.	S100Z-91	0			c.G180T						.						136	144	141					5																	76173537		2082	4238	6320	SO:0001583	missense	170591	exon4			AGTGCAGGACCTG	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"S100 calcium binding proteins", "EF-hand domain containing"	30367	protein-coding gene	gene with protein product		610103	"S100 calcium binding protein, zeta"			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.180G>T	5.37:g.76173537G>T	ENSP00000320430:p.Gln60His	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	153	28	NM_130772	0	0	0	0	0		Missense_Mutation	SNP	ENST00000317593.4	37	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572979	0.28092	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.14391	2.51;2.51	5.38	2.42	0.29668	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.185694	0.56097	N	0.000035	T	0.08582	0.0213	.	.	.	0.32444	N	0.546357	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	9	0.56958	D	0.05	.	2.2436	0.04025	0.1386:0.1227:0.3617:0.377	.	60	Q8WXG8	S100Z_HUMAN	H	60	ENSP00000426768:Q60H;ENSP00000320430:Q60H	ENSP00000320430:Q60H	Q	+	3	2	S100Z	76209293	0.993000	0.37304	1.000000	0.80357	0.470000	0.32858	0.305000	0.19254	0.585000	0.29608	0.638000	0.83543	CAG	.		0.398	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		T	76173537	G	T	76173537	3	4	31	1	0	0	0	0	1	0	0	0	13837	991	35	3	186	3	S100Z	5	76173537	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	44359	76173537	104741723	790	6342											
PAPD4	167153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	78944447	78944447	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttcttaaatagttgtgtgGagtttgacttgaatgtaaac	9	3	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:78944447G>T	ENST00000296783.3	+	10	1128	c.829G>T	c.(829-831)Gag>Tag	p.E277*	PAPD4_ENST00000504233.1_Nonsense_Mutation_p.E277*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.E273*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.E277*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.E277*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	277					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		taGTTGTGTGGAGTTTGACTT	0.269																																					p.E277X		.											.	PAPD4-69	0			c.G829T						.						53	51	51					5																	78944447		2197	4280	6477	SO:0001587	stop_gained	167153	exon10			TGTGTGGAGTTTG	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.829G>T	5.37:g.78944447G>T	ENSP00000296783:p.Glu277*	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	99	18	NM_173797	0	0	0	0	0	Q86WZ2|Q8N927	Nonsense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	41	9.017666	0.99037	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.2268	20.0086	0.97443	0.0:0.0:1.0:0.0	.	.	.	.	X	277;273;277;277;277	.	ENSP00000296783:E277X	E	+	1	0	PAPD4	78980203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.791000	0.85805	2.835000	0.97688	0.591000	0.81541	GAG	.		0.269	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		T	78944447	G	T	78944447	4	4	31	1	0	0	0	0	0	1	0	0	11463	1175	41	3	859	3	PAPD4	5	78944447	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2770910	78944447	101970813	791	6343											
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79025201	79025201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatacacctccgattActggggcaatatacaaagaa	6	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79025201A>G	ENST00000446378.2	+	2	644	c.613A>G	c.(613-615)Act>Gct	p.T205A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	205					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCTCCGATTACTGGGGCAAT	0.358																																					p.T205A		.											.	CMYA5-77	0			c.A613G						.						48	48	48					5																	79025201		1820	4089	5909	SO:0001583	missense	202333	exon2			CCGATTACTGGGG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.613A>G	5.37:g.79025201A>G	ENSP00000394770:p.Thr205Ala	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	160	23	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289032	0.23478	.	.	ENSG00000164309	ENST00000446378	T	0.60040	0.22	6.06	6.06	0.98353	.	0.127790	0.36665	N	0.002480	T	0.49762	0.1576	L	0.34521	1.04	0.09310	N	0.999993	P	0.48503	0.911	P	0.46940	0.532	T	0.54629	-0.8265	10	0.87932	D	0	.	6.8239	0.23872	0.795:0.0:0.0699:0.135	.	205	Q8N3K9	CMYA5_HUMAN	A	205	ENSP00000394770:T205A	ENSP00000394770:T205A	T	+	1	0	CMYA5	79060957	0.945000	0.32115	0.953000	0.39169	0.221000	0.24807	3.078000	0.50096	2.315000	0.78130	0.533000	0.62120	ACT	.		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79025201	A	G	79025201	3	3	31	1	0	0	0	0	1	0	0	0	3597	391	14	4	619	4	CMYA5	5	79025201	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	80754	79025201	101890059	792	6344											
CMYA5	202333	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	79031613	79031613	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcctcatgttactgAtagtaaaagagtccagaagc	8	9	1	3	rs372139811		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79031613A>T	ENST00000446378.2	+	2	7056	c.7025A>T	c.(7024-7026)gAt>gTt	p.D2342V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2342					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGTTACTGATAGTAAAAGA	0.368																																					p.D2342V		.											.	CMYA5-77	0			c.A7025T						.	A	VAL/ASP	0,3676		0,0,1838	50	47	48		7025	4.8	0	5		48	1,8175		0,1,4087	no	missense	CMYA5	NM_153610.3	152	0,1,5925	TT,TA,AA		0.0122,0.0,0.0084	possibly-damaging	2342/4070	79031613	1,11851	1838	4088	5926	SO:0001583	missense	202333	exon2			TTACTGATAGTAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7025A>T	5.37:g.79031613A>T	ENSP00000394770:p.Asp2342Val	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	123	31	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	9.999	1.233008	0.22626	0.0	1.22E-4	ENSG00000164309	ENST00000446378	T	0.17213	2.29	6.17	4.83	0.62350	.	0.478986	0.19552	N	0.111545	T	0.18718	0.0449	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	B	0.41860	0.368	T	0.22871	-1.0204	10	0.72032	D	0.01	.	8.8492	0.35190	0.9068:0.0:0.0932:0.0	.	2342	Q8N3K9	CMYA5_HUMAN	V	2342	ENSP00000394770:D2342V	ENSP00000394770:D2342V	D	+	2	0	CMYA5	79067369	0.755000	0.28372	0.024000	0.17045	0.004000	0.04260	1.888000	0.39708	2.371000	0.80710	0.533000	0.62120	GAT	.		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79031613	A	T	79031613	3	4	31	1	0	0	0	0	1	0	0	0	3597	333	12	5	7031	5	CMYA5	5	79031613	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	6412	79031613	101883647	793	6345											
THBS4	7060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79366521	79366521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcagacagagatggcaTtggcgacgcttgtgacgagg	16	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79366521T>G	ENST00000350881.2	+	12	1698	c.1508T>G	c.(1507-1509)aTt>aGt	p.I503S	THBS4_ENST00000511733.1_Missense_Mutation_p.I412S|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	503					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGATGGCATTGGCGACGCT	0.517																																					p.I503S		.											.	THBS4-90	0			c.T1508G						.						142	126	132					5																	79366521		2203	4300	6503	SO:0001583	missense	7060	exon12			ATGGCATTGGCGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1508T>G	5.37:g.79366521T>G	ENSP00000339730:p.Ile503Ser	Somatic	199	1		WXS	Illumina GAIIx	Phase_I	213	45	NM_003248	0	0	0	0	0	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907806	0.33721	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98792	-5.14;-5.14	5.17	5.17	0.71159	.	0.411149	0.27951	N	0.017183	D	0.98105	0.9375	M	0.91768	3.24	0.37738	D	0.925504	B	0.26809	0.16	B	0.26517	0.07	D	0.98891	1.0773	10	0.45353	T	0.12	-3.6587	10.3906	0.44166	0.0:0.076:0.0:0.924	.	503	P35443	TSP4_HUMAN	S	503;412	ENSP00000339730:I503S;ENSP00000422298:I412S	ENSP00000339730:I503S	I	+	2	0	THBS4	79402277	0.001000	0.12720	0.981000	0.43875	0.537000	0.34900	1.153000	0.31676	2.183000	0.69458	0.533000	0.62120	ATT	.		0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			G	79366521	T	G	79366521	3	3	31	1	0	0	0	0	1	0	0	0	15903	1493	52	5	1554	5	THBS4	5	79366521	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	334908	79366521	101548739	794	6346											
VCAN	1462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	82785935	82785935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaagtgggaaaaagccCaccggtgaggggctccctct	13	11	2	1	rs202176395		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:82785935C>A	ENST00000265077.3	+	3	654	c.89C>A	c.(88-90)cCa>cAa	p.P30Q	VCAN_ENST00000343200.5_Missense_Mutation_p.P30Q|VCAN_ENST00000502527.2_Missense_Mutation_p.P30Q|VCAN_ENST00000513984.1_Missense_Mutation_p.P30Q|VCAN_ENST00000342785.4_Missense_Mutation_p.P30Q|VCAN_ENST00000512590.2_5'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	30	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAAAAAGCCCACCGGTGAGG	0.418																																					p.P30Q		.											.	VCAN-238	0			c.C89A						.						45	46	46					5																	82785935		2199	4282	6481	SO:0001583	missense	1462	exon3			AAAGCCCACCGGT	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.89C>A	5.37:g.82785935C>A	ENSP00000265077:p.Pro30Gln	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	45	12	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104405	0.37145	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.78	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	0.201095	0.35646	N	0.003080	T	0.66944	0.2841	N	0.21282	0.65	0.26838	N	0.968437	P;B;D;D;B	0.69078	0.942;0.002;0.989;0.997;0.188	P;B;P;D;B	0.70227	0.622;0.009;0.885;0.968;0.102	T	0.63475	-0.6629	10	0.49607	T	0.09	.	15.1162	0.72404	0.0:0.9316:0.0:0.0684	.	30;30;30;30;30	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	Q	30	ENSP00000265077:P30Q;ENSP00000340062:P30Q;ENSP00000342768:P30Q;ENSP00000426251:P30Q;ENSP00000426715:P30Q;ENSP00000421362:P30Q	ENSP00000265077:P30Q	P	+	2	0	VCAN	82821691	0.001000	0.12720	0.004000	0.12327	0.051000	0.14879	1.377000	0.34317	1.447000	0.47661	0.655000	0.94253	CCA	C|0.999;T|0.001		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82785935	C	A	82785935	3	1	31	1	0	0	0	0	1	0	0	0	17187	594	21	3	95	3	VCAN	5	82785935	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3419414	82785935	98129325	795	6347											
VCAN	1462	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	82808022	82808022	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggcaacagtgggggaactCcaggcggcatggaggaacgg	18	9	0	0	rs142777690	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:82808022C>A	ENST00000265077.3	+	6	1414	c.849C>A	c.(847-849)ctC>ctA	p.L283L	VCAN_ENST00000343200.5_Silent_p.L283L|VCAN_ENST00000502527.2_Silent_p.L283L|VCAN_ENST00000513984.1_Silent_p.L283L|VCAN_ENST00000342785.4_Silent_p.L283L|VCAN_ENST00000512590.2_Silent_p.L235L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	283	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGGGGAACTCCAGGCGGCAT	0.597																																					p.L283L		.											.	VCAN-238	0			c.C849A						.						74	65	68					5																	82808022		2203	4300	6503	SO:0001819	synonymous_variant	1462	exon6			GGAACTCCAGGCG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.849C>A	5.37:g.82808022C>A		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	102	52	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																			C|0.999;T|0.001		0.597	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82808022	C	A	82808022	2	1	31	1	0	0	0	0	0	0	0	1	17187	842	30	3		3	VCAN	5	82808022	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	22087	82808022	98107238	796	6348											
EDIL3	10085	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	83356153	83356153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtcattgtggccagagGtccaggcattcactttgcct	11	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:83356153G>A	ENST00000296591.5	-	9	1521	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	EDIL3_ENST00000380138.3_Missense_Mutation_p.T358I|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	368	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGGCCAGAGGTCCAGGCATT	0.458																																					p.T368I		.											.	EDIL3-131	0			c.C1103T						.						144	134	138					5																	83356153		2203	4300	6503	SO:0001583	missense	10085	exon9			CCAGAGGTCCAGG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1103C>T	5.37:g.83356153G>A	ENSP00000296591:p.Thr368Ile	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	140	21	NM_005711	0	0	0	0	0	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240453	0.79912	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98178	-4.77;-4.77	5.96	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.042264	0.85682	D	0.000000	D	0.98416	0.9473	L	0.50919	1.6	0.80722	D	1	B;D;P	0.76494	0.031;0.999;0.619	B;D;P	0.80764	0.025;0.994;0.487	D	0.99764	1.1022	10	0.62326	D	0.03	-14.9436	16.6084	0.84837	0.0:0.0:0.8687:0.1313	.	145;358;368	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	I	368;358	ENSP00000296591:T368I;ENSP00000369483:T358I	ENSP00000296591:T368I	T	-	2	0	EDIL3	83391909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.640000	0.83355	1.521000	0.48983	0.655000	0.94253	ACC	.		0.458	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		A	83356153	G	A	83356153	3	1	31	1	0	0	0	0	1	0	0	0	4929	1261	44	3	351	3	EDIL3	5	83356153	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	548131	83356153	97559107	797	6349											
MEF2C	4208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	88047710	88047710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtcgatgtgttacacCaggagacatactattcctct	10	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:88047710C>G	ENST00000437473.2	-	5	970	c.553G>C	c.(553-555)Ggt>Cgt	p.G185R	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.G137R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G203R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G185R|MEF2C_ENST00000424173.2_Missense_Mutation_p.G183R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G185R|MEF2C_ENST00000504921.2_Missense_Mutation_p.G185R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G185R|MEF2C_ENST00000506554.1_Missense_Mutation_p.G185R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G185R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	185					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTGTTACACCAGGAGACATA	0.478										HNSCC(66;0.2)																											p.G203R		.											.	MEF2C-704	0			c.G607C						.						297	290	292					5																	88047710		2032	4190	6222	SO:0001583	missense	4208	exon7			TTACACCAGGAGA	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.553G>C	5.37:g.88047710C>G	ENSP00000396219:p.Gly185Arg	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	192	44	NM_001193347	0	0	0	0	0	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717154	0.89205	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87887	0.03;0.07;0.12;0.14;0.14;0.09;-0.2;-0.22;-0.15;0.43;-2.28;-2.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.75085	2.285	0.80722	D	1	B;D;D;D	0.89917	0.23;1.0;1.0;1.0	B;D;D;D	0.91635	0.074;0.999;0.999;0.997	D	0.92723	0.6193	10	0.48119	T	0.1	-4.1498	19.8938	0.96942	0.0:1.0:0.0:0.0	.	183;203;185;185	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	R	203;183;185;185;185;185;185;185;185;137;183;183	ENSP00000340874:G203R;ENSP00000389610:G183R;ENSP00000421925:G185R;ENSP00000426665:G185R;ENSP00000396219:G185R;ENSP00000422390:G185R;ENSP00000425636:G185R;ENSP00000423597:G185R;ENSP00000424606:G185R;ENSP00000441153:G137R;ENSP00000423826:G183R;ENSP00000423656:G183R	ENSP00000340874:G203R	G	-	1	0	MEF2C	88083466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.703000	0.92315	0.460000	0.39030	GGT	.		0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		G	88047710	C	G	88047710	3	3	31	1	0	0	0	0	1	0	0	0	9495	594	21	3	896	3	MEF2C	5	88047710	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4691557	88047710	92867550	798	6350											
POU5F2	134187	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	93077152	93077153	+	Missense_Mutation	DNP	CC	CC	AA													gaccatcaccctgccaggggCcgcctgggtgctcaaccagg					rs371634969		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|C	|C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:93077152_93077153CC>AA	ENST00000510627.4	-	1	190_191	c.117_118GG>TT	c.(115-120)gcGGcc>gcTTcc	p.A40S	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'Flank	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	40					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCCAGGGGCCGCCTGGGTGC	0.683																																					p.A40S|p.A39A		.											.	.	0			c.G118T|c.G117T						.																																			SO:0001583	missense	134187	exon1			CAGGGGCCGCCTG|AGGGGCCGCCTGG		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.117_118delinsAA	5.37:g.93077152_93077153delinsAA	ENSP00000464890:p.Ala40Ser	Somatic	102	1|0		WXS	Illumina GAIIx	Phase_I	144|145	68	NM_153216	0	0	0	0	0	Q15169|Q6MZL7|Q8N748	Missense_Mutation|Silent	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																			.		0.683	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		AA	93077153	CC	AA	93077152	3	1	31	1	0	0	0	0	1	0	0	0	12322	739	26	3	872	3	POU5F2	5	93077152	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	5029442	93077152	87838108	799	6351											
C5orf36	285600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	93805738	93805738	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcttgtagcacaaactctGacgcagtagttcgtaacctg	9	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:93805738G>A	ENST00000513200.3	-	9	1872	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	KIAA0825_ENST00000427991.2_Silent_p.V600V|KIAA0825_ENST00000312498.7_Silent_p.V600V	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	600										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CACAAACTCTGACGCAGTAGT	0.423																																					p.V600V		.											.	KIAA0825-91	0			c.C1800T						.						204	174	183					5																	93805738		692	1591	2283	SO:0001819	synonymous_variant	285600	exon10			AACTCTGACGCAG	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.1800C>T	5.37:g.93805738G>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	108	18	NM_001145678	0	0	0	0	0	O94914|Q6ZNN2	Silent	SNP	ENST00000513200.3	37																																																																																				.		0.423	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665		A	93805738	G	A	93805738	2	1	31	1	0	0	0	0	0	0	0	1	2302	1277	45	3		3	C5orf36	5	93805738	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	728586	93805738	87109522	800	6352											
ANKRD32	84250	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	94027837	94027837	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatggcaacacagtgtgtgtCcaggaaattttgcaacgttg	11	7	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94027837C>A	ENST00000265140.5	+	20	2990	c.2571C>A	c.(2569-2571)gtC>gtA	p.V857V		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	857						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)		CAGTGTGTGTCCAGGAAATTT	0.448																																					p.V857V		.											.	ANKRD32-92	0			c.C2571A						.						125	115	118					5																	94027837		2203	4300	6503	SO:0001819	synonymous_variant	84250	exon20			GTGTGTCCAGGAA	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.2571C>A	5.37:g.94027837C>A		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	145	37	NM_032290	0	0	0	0	0	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																			.		0.448	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		A	94027837	C	A	94027837	2	1	31	1	0	0	0	0	0	0	0	1	660	842	30	3		3	ANKRD32	5	94027837	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	222099	94027837	86887423	801	6353											
MCTP1	79772	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	94206155	94206155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttcctcttcaatgtaCttctgttctttgggtattaa	6	8	4	0	rs375826785		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94206155C>A	ENST00000515393.1	-	16	2282	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	MCTP1_ENST00000429576.2_Missense_Mutation_p.K494N|MCTP1_ENST00000505208.1_Missense_Mutation_p.K540N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K277N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K540N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	761					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCAATGTACTTCTGTTCTT	0.318																																					p.K761N		.											.	MCTP1-92	0			c.G2283T						.						189	178	182					5																	94206155		2202	4299	6501	SO:0001583	missense	79772	exon16			AATGTACTTCTGT		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2283G>T	5.37:g.94206155C>A	ENSP00000424126:p.Lys761Asn	Somatic	120	2		WXS	Illumina GAIIx	Phase_I	80	37	NM_024717	0	0	0	0	0	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849002	0.51164	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	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	5.59	5.59	0.84812	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.69463	2.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.992	T	0.82285	-0.0533	10	0.56958	D	0.05	-15.5605	12.8678	0.57949	0.0:0.9259:0.0:0.0741	.	761;494;540	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	N	761;494;277;540;481;422;540;362	ENSP00000424126:K761N;ENSP00000391639:K494N;ENSP00000426417:K277N;ENSP00000308957:K540N;ENSP00000423410:K481N;ENSP00000431075:K422N;ENSP00000426438:K540N;ENSP00000426294:K362N	ENSP00000308957:K540N	K	-	3	2	MCTP1	94231911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	2.640000	0.89533	0.655000	0.94253	AAG	.		0.318	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		A	94206155	C	A	94206155	3	1	31	1	0	0	0	0	1	0	0	0	9438	564	20	3	748	3	MCTP1	5	94206155	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	178318	94206155	86709105	802	6354											
FAM81B	153643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	94727146	94727146	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcagaaaaaagaaaaaaatCacagagattgtttttcaaaa	5	5	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94727146C>T	ENST00000283357.5	+	1	99	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	18						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGAAAAAAATCACAGAGATTG	0.368																																					p.S18L		.											.	FAM81B-92	0			c.C53T						.						73	73	73					5																	94727146		1806	4077	5883	SO:0001583	missense	153643	exon1			AAAAATCACAGAG		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.53C>T	5.37:g.94727146C>T	ENSP00000283357:p.Ser18Leu	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	123	26	NM_152548	0	0	0	0	0		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	8.255	0.809970	0.16537	.	.	ENSG00000153347	ENST00000283357	T	0.21734	1.99	4.42	-1.28	0.09318	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.41790	T	0.15	.	1.0328	0.01542	0.1549:0.4005:0.1515:0.293	.	18	Q96LP2	FA81B_HUMAN	L	18	ENSP00000283357:S18L	ENSP00000283357:S18L	S	+	2	0	FAM81B	94752902	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-2.123000	0.01319	-0.387000	0.07809	0.563000	0.77884	TCA	.		0.368	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		T	94727146	C	T	94727146	3	4	31	1	0	0	0	0	1	0	0	0	5651	838	29	3	55	3	FAM81B	5	94727146	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	520991	94727146	86188114	803	6355											
FAM81B	153643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	94772570	94772570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgaatttaaagatggtcCagggggattatcgccacgaa	11	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94772570C>T	ENST00000283357.5	+	7	899	c.853C>T	c.(853-855)Cag>Tag	p.Q285*		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	285						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAGATGGTCCAGGGGGATTA	0.393																																					p.Q285X		.											.	FAM81B-92	0			c.C853T						.						80	75	77					5																	94772570		1868	4120	5988	SO:0001587	stop_gained	153643	exon7			ATGGTCCAGGGGG		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.853C>T	5.37:g.94772570C>T	ENSP00000283357:p.Gln285*	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	103	50	NM_152548	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432100	0.96150	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.47	4.6	0.57074	.	0.445726	0.23768	N	0.044743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.1856	12.6102	0.56546	0.0:0.9185:0.0:0.0815	.	.	.	.	X	285	.	ENSP00000283357:Q285X	Q	+	1	0	FAM81B	94798326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.360000	0.52299	2.569000	0.86673	0.650000	0.86243	CAG	.		0.393	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		T	94772570	C	T	94772570	4	4	31	1	0	0	0	0	0	1	0	0	5651	595	21	3	879	3	FAM81B	5	94772570	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	45424	94772570	86142690	804	6356											
TTC37	9652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	94852291	94852291	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcataatttccaatacCtgaaaaatacaaaacctgat	5	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94852291C>T	ENST00000358746.2	-	24	2814		c.e24-1		TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTCCAATACCTGAAAAATAC	0.323																																					.		.											.	TTC37-94	0			c.2516-1G>A						.						58	62	60					5																	94852291		2203	4298	6501	SO:0001630	splice_region_variant	9652	exon25			CAATACCTGAAAA	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.2516-1G>A	5.37:g.94852291C>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	108	51	NM_014639	0	0	0	0	0	O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509134	0.64410	.	.	ENSG00000198677	ENST00000358746	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8545	0.92246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94878047	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.244000	0.65400	2.531000	0.85337	0.467000	0.42956	.	.		0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron	T	94852291	C	T	94852291	5	4	31	1	0	0	0	0	0	0	1	0	16754	695	24	3	2259	3	TTC37	5	94852291	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	79721	94852291	86062969	805	6357											
ARSK	153642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	94901701	94901701	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaaatttctttatttccaGgatggaaggttaacatttca	6	5	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94901701G>T	ENST00000380009.4	+	2	331		c.e2-1			NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTTATTTCCAGGATGGAAGGT	0.313																																					.		.											.	ARSK-91	0			c.127-1G>T						.						55	53	54					5																	94901701		2203	4300	6503	SO:0001630	splice_region_variant	153642	exon2			TTTCCAGGATGGA		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.127-1G>T	5.37:g.94901701G>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	38	8	NM_198150	0	0	0	0	0	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Splice_Site	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460170	0.84317	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSK	94927457	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.404000	0.97306	2.941000	0.99782	0.655000	0.94253	.	.		0.313	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	Intron	T	94901701	G	T	94901701	5	4	31	1	0	0	0	0	0	0	1	0	997	1014	35	3	132	3	ARSK	5	94901701	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	49410	94901701	86013559	806	6358											
SPATA9	83890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	95018555	95018555	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaacaggtttgattgGcatggtgagttcttgcttgg	12	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:95018555G>C	ENST00000274432.8	-	1	145	c.4C>G	c.(4-6)Cca>Gca	p.P2A	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.P2A	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGTTTGATTGGCATGGTGAGT	0.468																																					p.P2A		.											.	SPATA9-90	0			c.C4G						.						150	144	146					5																	95018555		2203	4300	6503	SO:0001583	missense	83890	exon1			TGATTGGCATGGT	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.4C>G	5.37:g.95018555G>C	ENSP00000274432:p.Pro2Ala	Somatic	151	1		WXS	Illumina GAIIx	Phase_I	138	55	NM_031952	0	0	0	0	0	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801492	0.50315	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.44482	0.92	4.8	1.99	0.26369	.	0.485483	0.17410	N	0.175226	T	0.24314	0.0589	N	0.19112	0.55	0.23113	N	0.998275	B	0.26147	0.143	B	0.26770	0.073	T	0.16305	-1.0407	10	0.52906	T	0.07	-1.0216	4.5254	0.11980	0.204:0.1935:0.6025:0.0	.	2	Q9BWV2	SPAT9_HUMAN	A	2	ENSP00000274432:P2A	ENSP00000274432:P2A	P	-	1	0	SPATA9	95044311	0.974000	0.33945	0.812000	0.32479	0.928000	0.56348	0.781000	0.26774	0.219000	0.20840	0.563000	0.77884	CCA	.		0.468	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		C	95018555	G	C	95018555	3	2	31	1	0	0	0	0	1	0	0	0	15063	1203	42	3	780	3	SPATA9	5	95018555	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	116854	95018555	85896705	807	6359											
SLCO6A1	133482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	101794169	101794169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgaagctgtttacGtttcctagcttttatccgtg	7	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:101794169G>C	ENST00000506729.1	-	6	1219	c.1048C>G	c.(1048-1050)Cgt>Ggt	p.R350G	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350G|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288G|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																					p.R350G		.											.	SLCO6A1-96	0			c.C1048G						.						133	131	132					5																	101794169		2201	4300	6501	SO:0001583	missense	133482	exon6			GTTTACGTTTCCT	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>G	5.37:g.101794169G>C	ENSP00000421339:p.Arg350Gly	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	52	20	NM_173488	0	0	0	0	0	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.252	0.603379	0.14002	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.80214	-1.35;-1.35;-1.35	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	D	0.85318	0.5669	M	0.74258	2.255	0.09310	N	1	D;D	0.67145	0.996;0.994	D;P	0.65233	0.933;0.9	T	0.65541	-0.6143	10	0.23302	T	0.38	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	G	350;350;288	ENSP00000421339:R350G;ENSP00000369135:R350G;ENSP00000373671:R288G	ENSP00000369135:R350G	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT	.		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		C	101794169	G	C	101794169	3	2	31	1	0	0	0	0	1	0	0	0	14777	1145	40	2	1143	2	SLCO6A1	5	101794169	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6775614	101794169	79121091	808	6360											
PPIP5K2	23262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	102508858	102508858	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgtattttttgctcaGgaatatggtataactaaagc	8	5	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:102508858G>T	ENST00000358359.3	+	20	2795		c.e20-1		PPIP5K2_ENST00000321521.9_Splice_Site|PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000414217.1_Splice_Site	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTGCTCAGGAATATGGTA	0.338																																					.		.											.	PPIP5K2-92	0			c.2287-1G>T						.						50	53	52					5																	102508858		2203	4299	6502	SO:0001630	splice_region_variant	23262	exon20			TGCTCAGGAATAT	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2287-1G>T	5.37:g.102508858G>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	55	26	NM_001276277	0	0	0	0	0	A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	15.84	2.951133	0.53186	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	.	.	.	5.63	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3369	0.49509	0.0682:0.1272:0.8045:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIP5K2	102536757	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.813000	0.99286	0.733000	0.32492	-0.142000	0.14014	.	.		0.338	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	Intron	T	102508858	G	T	102508858	5	4	31	1	0	0	0	0	0	0	1	0	12375	1014	35	3	2360	3	PPIP5K2	5	102508858	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	714689	102508858	78406402	809	6361											
APC	324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	112175595	112175595	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaaaccatgccaccaagcaGaagtaaaacacctccaccac	4	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:112175595G>C	ENST00000457016.1	+	16	4684	c.4304G>C	c.(4303-4305)aGa>aCa	p.R1435T	APC_ENST00000508376.2_Missense_Mutation_p.R1435T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R1435T			P25054	APC_HUMAN	adenomatous polyposis coli	1435	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.R1435fs*38(3)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(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)		CCACCAAGCAGAAGTAAAACA	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.R1435T	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-12026	7	Deletion - Frameshift(6)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)	c.G4304C						.						115	102	106					5																	112175595		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,	CAAGCAGAAGTAA	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.4304G>C	5.37:g.112175595G>C	ENSP00000413133:p.Arg1435Thr	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	114	29	NM_001127510	0	0	0	0	0	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351662	0.82132	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.93281	0.6660	9	.	.	.	-26.4321	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1437;1435	Q4LE70;P25054	.;APC_HUMAN	T	1435	ENSP00000413133:R1435T;ENSP00000257430:R1435T;ENSP00000427089:R1435T	.	R	+	2	0	APC	112203494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	AGA	.		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		C	112175595	G	C	112175595	3	2	31	1	0	0	0	0	1	0	0	0	763	942	33	3	4362	3	APC	5	112175595	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9666737	112175595	68739665	810	6362											
YTHDC2	64848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	112899724	112899724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcttatcgagatccttttGtactacctactcaggcctct	6	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:112899724G>T	ENST00000161863.4	+	20	2824	c.2611G>T	c.(2611-2613)Gta>Tta	p.V871L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433																																					p.V871L		.											.	YTHDC2-92	0			c.G2611T						.						187	179	182					5																	112899724		2202	4300	6502	SO:0001583	missense	64848	exon20			CCTTTTGTACTAC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2611G>T	5.37:g.112899724G>T	ENSP00000161863:p.Val871Leu	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	145	56	NM_022828	0	0	0	0	0	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708094	0.48412	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.27256	1.68	5.08	4.15	0.48705	Helicase-associated domain (2);	0.133715	0.50627	D	0.000110	T	0.23492	0.0568	N	0.21240	0.645	0.80722	D	1	B	0.33379	0.41	B	0.41174	0.349	T	0.07347	-1.0777	10	0.36615	T	0.2	.	15.275	0.73734	0.0:0.1406:0.8594:0.0	.	871	Q9H6S0	YTDC2_HUMAN	L	871;781	ENSP00000161863:V871L	ENSP00000161863:V871L	V	+	1	0	YTHDC2	112927623	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	5.338000	0.65947	2.529000	0.85273	0.655000	0.94253	GTA	.		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		T	112899724	G	T	112899724	3	4	31	1	0	0	0	0	1	0	0	0	17546	1377	48	3	2689	3	YTHDC2	5	112899724	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	724129	112899724	68015536	811	6363											
AQPEP	206338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	115318994	115318994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttcagggccctgttaGcgtcccagctggaaccaaca	10	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:115318994G>A	ENST00000357872.4	+	2	830	c.706G>A	c.(706-708)Gcg>Acg	p.A236T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		236						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGCCCTGTTAGCGTCCCAGCT	0.373																																					p.A236T		.											.	.	0			c.G706A						.						55	51	52					5																	115318994		2201	4298	6499	SO:0001583	missense	0	exon2			CTGTTAGCGTCCC																												ENST00000357872.4:c.706G>A	5.37:g.115318994G>A	ENSP00000350541:p.Ala236Thr	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	174	88	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027100	0.07589	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03920	3.76	5.4	4.48	0.54585	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.172230	0.39210	N	0.001424	T	0.07548	0.0190	N	0.25380	0.74	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	T	0.16748	-1.0392	10	0.02654	T	1	.	15.0153	0.71578	0.0:0.0:0.8576:0.1424	.	236	Q6Q4G3	AMPQ_HUMAN	T	236;225	ENSP00000350541:A236T	ENSP00000350541:A236T	A	+	1	0	AC010282.1	115346893	1.000000	0.71417	0.377000	0.26055	0.881000	0.50899	6.768000	0.74980	2.681000	0.91329	0.650000	0.86243	GCG	.		0.373	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115318994	G	A	115318994	3	1	31	1	0	0	0	0	1	0	0	0	834	971	34	3	712	3	AQPEP	5	115318994	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2419270	115318994	65596266	812	6364											
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	chr5	115813810	115813821	+	In_Frame_Del	DEL	TGCCCATGATCC	TGCCCATGATCC	-													gcttgctctgtccagctgcaTgcccatgatccttttgtctt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:115813810_115813821delTGCCCATGATCC	ENST00000343348.6	-	14	2244_2255	c.1457_1468delGGATCATGGGCA	c.(1456-1470)aggatcatgggcatg>atg	p.RIMG486del	SEMA6A_ENST00000282394.6_In_Frame_Del_p.RIMG18del|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_In_Frame_Del_p.RIMG486del|SEMA6A_ENST00000510263.1_In_Frame_Del_p.RIMG486del|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	486	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)		TCCAGCTGCATGCCCATGATCCTTTTGTCTTC	0.458																																					p.486_490del		.											.	SEMA6A-92	0			c.1457_1468del						.																																			SO:0001651	inframe_deletion	57556	exon14			GCTGCATGCCCAT	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.1457_1468delGGATCATGGGCA	5.37:g.115813810_115813821delTGCCCATGATCC	ENSP00000345512:p.Arg486_Gly489del	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	144	11	NM_020796	0	0	0	0	0	Q9P2H9	In_Frame_Del	DEL	ENST00000343348.6	37	CCDS47256.1																																																																																			.		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		-	115813821	TGCCCATGATCC	-	115813810	7	5	31	1	0	1	0	1	0	0	0	0	14084	1464	51	0	1648	0	SEMA6A	5	115813810	In_Frame_Del	DEL	TGCCCATGATCC	TCGA-OR-A5KB-01A-11D-A30A-10	494816	115813810	65101450	813	6365											
HSD17B4	3295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	118809620	118809620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtgaatgatttgggagggGacttcaaaggagttggtaaa	15	3	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:118809620G>T	ENST00000256216.6	+	3	263	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	HSD17B4_ENST00000510025.1_Missense_Mutation_p.D20Y|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.D26Y|HSD17B4_ENST00000504811.1_Missense_Mutation_p.D69Y	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	44	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTTGGGAGGGGACTTCAAAGG	0.378																																					p.D69Y	Colon(35;490 801 34689 41394 43344)	.											.	HSD17B4-92	0			c.G205T	GRCh37	CD060117	HSD17B4	D		.						122	123	123					5																	118809620		2202	4300	6502	SO:0001583	missense	3295	exon4			GGAGGGGACTTCA		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.130G>T	5.37:g.118809620G>T	ENSP00000256216:p.Asp44Tyr	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	128	20	NM_001199291	0	0	0	0	0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585089	0.66105	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.03	4.16	0.48862	NAD(P)-binding domain (1);	0.099613	0.64402	D	0.000002	D	0.94644	0.8273	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.65815	0.993;0.984;0.984;0.995	P;P;P;D	0.67548	0.859;0.603;0.603;0.952	D	0.94828	0.7993	10	0.72032	D	0.01	-14.7381	13.2224	0.59896	0.0783:0.0:0.9217:0.0	.	69;26;20;44	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Y	44;26;20;69	ENSP00000256216:D44Y;ENSP00000424613:D26Y;ENSP00000424940:D20Y;ENSP00000420914:D69Y	ENSP00000256216:D44Y	D	+	1	0	HSD17B4	118837519	1.000000	0.71417	0.872000	0.34217	0.973000	0.67179	4.760000	0.62235	1.116000	0.41820	-0.291000	0.09656	GAC	.		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		T	118809620	G	T	118809620	3	4	31	1	0	0	0	0	1	0	0	0	7413	1174	41	3	140	3	HSD17B4	5	118809620	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2995810	118809620	62105640	814	6366											
MEGF10	84466	broad.mit.edu;ucsc.edu	37	chr5	126755743	126755743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtcgcacaggctggcaCggggtggactgctccatcag	14	12	2	0	rs200050342		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:126755743C>A	ENST00000274473.6	+	13	1701	c.1434C>A	c.(1432-1434)caC>caA	p.H478Q	MEGF10_ENST00000418761.2_Missense_Mutation_p.H478Q|MEGF10_ENST00000503335.2_Missense_Mutation_p.H478Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.H478Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	478	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGGCTGGCACGGGGTGGACT	0.572																																					p.H478Q		.											.	MEGF10-94	0			c.C1434A						.						72	56	62					5																	126755743		2203	4300	6503	SO:0001583	missense	84466	exon13			CTGGCACGGGGTG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1434C>A	5.37:g.126755743C>A	ENSP00000274473:p.His478Gln	Somatic	98	2		WXS	Illumina GAIIx	Phase_I	95	16	NM_032446	0	0	0	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283445	0.05642	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.62	0.249	0.15531	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.02960	-0.455	0.53688	D	0.999971	B;B	0.14012	0.003;0.009	B;B	0.21360	0.007;0.034	T	0.37865	-0.9687	10	0.02654	T	1	-23.3832	9.9952	0.41896	0.0:0.3611:0.0:0.6389	.	478;478	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	Q	478	ENSP00000423354:H478Q;ENSP00000423195:H478Q;ENSP00000416284:H478Q;ENSP00000274473:H478Q	ENSP00000274473:H478Q	H	+	3	2	MEGF10	126783642	0.725000	0.28048	0.998000	0.56505	0.984000	0.73092	-0.136000	0.10405	0.030000	0.15379	0.655000	0.94253	CAC	C|1.000;T|0.000		0.572	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		A	126755743	C	A	126755743	3	1	31	1	0	0	0	0	1	0	0	0	9498	535	19	2	1476	2	MEGF10	5	126755743	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7946123	126755743	54159517	815	6367											
MEGF10	84466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	126769171	126769171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggcatctgcgagtgtgcaCcaggcttccgaggcaccact	12	13	1	0	rs202135671		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:126769171C>G	ENST00000274473.6	+	15	2077	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A	MEGF10_ENST00000503335.2_Missense_Mutation_p.P604A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	604	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAGTGTGCACCAGGCTTCCG	0.547																																					p.P604A		.											.	MEGF10-94	0			c.C1810G						.						124	118	120					5																	126769171		2203	4300	6503	SO:0001583	missense	84466	exon15			TGTGCACCAGGCT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1810C>G	5.37:g.126769171C>G	ENSP00000274473:p.Pro604Ala	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	166	40	NM_032446	0	0	0	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105658	0.77096	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56103	0.48;0.48	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	L	0.47016	1.485	0.58432	D	0.999998	D	0.55172	0.97	P	0.59012	0.85	T	0.56625	-0.7948	10	0.33940	T	0.23	-10.4167	20.8794	0.99867	0.0:1.0:0.0:0.0	.	604	Q96KG7	MEG10_HUMAN	A	604	ENSP00000423354:P604A;ENSP00000274473:P604A	ENSP00000274473:P604A	P	+	1	0	MEGF10	126797070	1.000000	0.71417	0.807000	0.32361	0.793000	0.44817	4.902000	0.63266	2.941000	0.99782	0.655000	0.94253	CCA	C|0.999;A|0.000		0.547	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		G	126769171	C	G	126769171	3	3	31	1	0	0	0	0	1	0	0	0	9498	507	18	3	1860	3	MEGF10	5	126769171	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13428	126769171	54146089	816	6368											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	127595479	127595479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgaacttcatgttgaCggggctgtccatgtcgacac	13	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127595479C>A	ENST00000508053.1	-	71	9381	c.8407G>T	c.(8407-8409)Gtc>Ttc	p.V2803F	FBN2_ENST00000262464.4_Missense_Mutation_p.V2803F			P35556	FBN2_HUMAN	fibrillin 2	2803					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)		TTCATGTTGACGGGGCTGTCC	0.517																																					p.V2803F		.											.	FBN2-146	0			c.G8407T						.						124	118	120					5																	127595479		2203	4300	6503	SO:0001583	missense	2201	exon65			TGTTGACGGGGCT	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.8407G>T	5.37:g.127595479C>A	ENSP00000424571:p.Val2803Phe	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	127	22	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283184	0.23392	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.84800	-1.9;-1.9	5.44	-1.34	0.09143	.	0.708561	0.13334	N	0.395696	T	0.72882	0.3516	L	0.36672	1.1	0.21290	N	0.999731	B	0.24186	0.099	B	0.25614	0.062	T	0.59825	-0.7381	10	0.44086	T	0.13	.	2.7572	0.05296	0.0937:0.2901:0.1879:0.4283	.	2803	P35556	FBN2_HUMAN	F	2803	ENSP00000262464:V2803F;ENSP00000424571:V2803F	ENSP00000262464:V2803F	V	-	1	0	FBN2	127623378	0.000000	0.05858	0.156000	0.22583	0.991000	0.79684	-1.279000	0.02807	-0.136000	0.11475	0.555000	0.69702	GTC	.		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127595479	C	A	127595479	3	1	31	1	0	0	0	0	1	0	0	0	5725	536	19	2	335	2	FBN2	5	127595479	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	826308	127595479	53319781	817	6369											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	127640733	127640733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatcaacacacaagcCatgactgcaaacgttaggaa	8	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127640733C>A	ENST00000508053.1	-	51	6690	c.5716G>T	c.(5716-5718)Ggc>Tgc	p.G1906C	FBN2_ENST00000262464.4_Missense_Mutation_p.G1906C			P35556	FBN2_HUMAN	fibrillin 2	1906	EGF-like 31; 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)		ACACACAAGCCATGACTGCAA	0.378																																					p.G1906C		.											.	FBN2-146	0			c.G5716T						.						86	72	76					5																	127640733		2203	4300	6503	SO:0001583	missense	2201	exon45			ACAAGCCATGACT	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.5716G>T	5.37:g.127640733C>A	ENSP00000424571:p.Gly1906Cys	Somatic	209	0		WXS	Illumina GAIIx	Phase_I	199	38	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396977	0.83120	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92495	-3.05;-3.05	5.03	4.15	0.48705	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.102409	0.43919	D	0.000508	D	0.97623	0.9221	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98132	1.0431	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.9254:0.0:0.0746	.	1906	P35556	FBN2_HUMAN	C	1906	ENSP00000262464:G1906C;ENSP00000424571:G1906C	ENSP00000262464:G1906C	G	-	1	0	FBN2	127668632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.619000	0.88677	0.467000	0.42956	GGC	.		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127640733	C	A	127640733	3	1	31	1	0	0	0	0	1	0	0	0	5725	594	21	3	3106	3	FBN2	5	127640733	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	45254	127640733	53274527	818	6370											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	127782257	127782257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccactgtattgatacagtttCctccttggcatatccctggg	8	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127782257C>A	ENST00000508053.1	-	13	1843	c.869G>T	c.(868-870)gGa>gTa	p.G290V	FBN2_ENST00000508989.1_Missense_Mutation_p.G257V|FBN2_ENST00000262464.4_Missense_Mutation_p.G290V			P35556	FBN2_HUMAN	fibrillin 2	290	EGF-like 4; 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)		GATACAGTTTCCTCCTTGGCA	0.413																																					p.G290V		.											.	FBN2-146	0			c.G869T						.						139	126	131					5																	127782257		2203	4300	6503	SO:0001583	missense	2201	exon7			CAGTTTCCTCCTT	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.869G>T	5.37:g.127782257C>A	ENSP00000424571:p.Gly290Val	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	77	11	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889826	0.91889	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.92595	-3.07;-3.07;-2.58;-3.07	4.81	4.81	0.61882	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	D	0.96750	0.8939	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;1.0;0.999	D	0.97277	0.9915	10	0.66056	D	0.02	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	257;290;257;290	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	V	290;290;257;290	ENSP00000262464:G290V;ENSP00000424571:G290V;ENSP00000425596:G257V;ENSP00000424753:G290V	ENSP00000262464:G290V	G	-	2	0	FBN2	127810156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	2.613000	0.88420	0.650000	0.86243	GGA	.		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127782257	C	A	127782257	3	1	31	1	0	0	0	0	1	0	0	0	5725	855	30	3	8105	3	FBN2	5	127782257	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	141524	127782257	53133003	819	6371											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	127800433	127800433	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttggcaagctccagtGcggatgttggggatgaaacc	13	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127800433G>T	ENST00000508053.1	-	12	1784	c.810C>A	c.(808-810)cgC>cgA	p.R270R	FBN2_ENST00000508989.1_Silent_p.R237R|FBN2_ENST00000262464.4_Silent_p.R270R			P35556	FBN2_HUMAN	fibrillin 2	270					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)		AAGCTCCAGTGCGGATGTTGG	0.597																																					p.R270R		.											.	FBN2-146	0			c.C810A						.						91	85	87					5																	127800433		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon6			TCCAGTGCGGATG	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.810C>A	5.37:g.127800433G>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	45	16	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			.		0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127800433	G	T	127800433	2	4	31	1	0	0	0	0	0	0	0	1	5725	1306	46	3		3	FBN2	5	127800433	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18176	127800433	53114827	820	6372											
SLC27A6	28965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	128302151	128302151	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctgaaaaagggggacacGgtggctctgctgatgagcaa	14	8	2	3	rs371452698		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:128302151G>T	ENST00000262462.4	+	1	1331	c.321G>T	c.(319-321)acG>acT	p.T107T	SLC27A6_ENST00000506176.1_Silent_p.T107T|SLC27A6_ENST00000395266.1_Silent_p.T107T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	107					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T107T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGGACACGGTGGCTCTGC	0.542																																					p.T107T		.											.	SLC27A6-90	1	Substitution - coding silent(1)	lung(1)	c.G321T						.						83	67	72					5																	128302151		2203	4300	6503	SO:0001819	synonymous_variant	28965	exon1			GGACACGGTGGCT	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.321G>T	5.37:g.128302151G>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	86	37	NM_001017372	0	0	0	0	0	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	CCDS4145.1																																																																																			.		0.542	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		T	128302151	G	T	128302151	2	4	31	1	0	0	0	0	0	0	0	1	14575	1103	39	2		2	SLC27A6	5	128302151	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	501718	128302151	52613109	821	6373											
LYRM7	90624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	130522733	130522733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaacagctaatgaaaataGgttctgatgttgaattatta	7	4	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:130522733G>T	ENST00000379380.4	+	4	386	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	LYRM7_ENST00000510516.1_Intron|LYRM7_ENST00000507584.1_Intron	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	59						mitochondrion (GO:0005739)				upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGAAAATAGGTTCTGATGT	0.284																																					p.G59C		.											.	LYRM7-68	0			c.G175T						.						98	97	98					5																	130522733		2187	4263	6450	SO:0001583	missense	90624	exon4			AAAATAGGTTCTG	BC047079	CCDS4148.1	5q31.1	2013-05-24	2012-10-23	2006-10-17	ENSG00000186687	ENSG00000186687		"LYR motif containing"	28072	protein-coding gene	gene with protein product		615831	"chromosome 5 open reading frame 31", "Lyrm7 homolog (mouse)"	C5orf31		23168492	Standard	NM_181705		Approved	FLJ20796, MZM1L	uc003kvg.1	Q5U5X0	OTTHUMG00000128994	ENST00000379380.4:c.175G>T	5.37:g.130522733G>T	ENSP00000368688:p.Gly59Cys	Somatic	143	1		WXS	Illumina GAIIx	Phase_I	126	29	NM_181705	0	0	0	0	0	A8MPQ9|Q86Y68	Missense_Mutation	SNP	ENST00000379380.4	37	CCDS4148.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995127	0.74703	.	.	ENSG00000186687	ENST00000379380	T	0.76316	-1.01	5.2	5.2	0.72013	.	0.139690	0.47455	D	0.000231	D	0.87406	0.6169	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.87778	0.2610	10	0.62326	D	0.03	-20.4568	16.6282	0.84992	0.0:0.0:1.0:0.0	.	59	Q5U5X0	LYRM7_HUMAN	C	59	ENSP00000368688:G59C	ENSP00000368688:G59C	G	+	1	0	LYRM7	130550632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.299000	0.65716	2.878000	0.98634	0.650000	0.86243	GGT	.		0.284	LYRM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250983.1	NM_181705		T	130522733	G	T	130522733	3	4	31	1	0	0	0	0	1	0	0	0	9159	1000	35	3	189	3	LYRM7	5	130522733	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2220582	130522733	50392527	822	6374											
RAD50	10111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	131940656	131940656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagactgtggaattaTccactgaagttcagtctttg	11	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:131940656T>C	ENST00000265335.6	+	16	3070	c.2683T>C	c.(2683-2685)Tcc>Ccc	p.S895P	RAD50_ENST00000378823.3_Missense_Mutation_p.S756P			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	895					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)			TGTGGAATTATCCACTGAAGT	0.294								Homologous recombination																													p.S895P		.											.	RAD50-229	0			c.T2683C						.						60	57	58					5																	131940656		2203	4300	6503	SO:0001583	missense	10111	exon16			GAATTATCCACTG	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.2683T>C	5.37:g.131940656T>C	ENSP00000265335:p.Ser895Pro	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	170	33	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446876	0.43429	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.21361	2.01;2.01	4.46	4.46	0.54185	.	0.195137	0.44688	D	0.000429	T	0.15435	0.0372	L	0.47716	1.5	0.42547	D	0.993095	P	0.40638	0.725	B	0.33750	0.169	T	0.04565	-1.0942	10	0.33940	T	0.23	-4.2645	8.2201	0.31537	0.3163:0.0:0.0:0.6837	.	895	Q92878	RAD50_HUMAN	P	756;895	ENSP00000368100:S756P;ENSP00000265335:S895P	ENSP00000265335:S895P	S	+	1	0	RAD50	131968555	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.088000	0.30877	1.770000	0.52166	0.455000	0.32223	TCC	.		0.294	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		C	131940656	T	C	131940656	3	2	31	1	0	0	0	0	1	0	0	0	13029	1435	50	4	2745	4	RAD50	5	131940656	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1417923	131940656	48974604	823	6375											
SHROOM1	134549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	132160321	132160321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattacctggctgggggcccCtgggaggcatgggggtctgg	19	9	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:132160321C>A	ENST00000378679.3	-	6	2031	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.Q409H	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	409					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGGGCCCCTGGGAGGCAT	0.582																																					p.Q409H		.											.	SHROOM1-91	0			c.G1227T						.						76	94	88					5																	132160321		2203	4300	6503	SO:0001583	missense	134549	exon3			GGGCCCCTGGGAG	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1227G>T	5.37:g.132160321C>A	ENSP00000367950:p.Gln409His	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	103	50	NM_133456	0	0	0	0	0	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947810	0.18356	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	T;T	0.21543	2.0;2.0	3.54	-4.34	0.03666	.	1.276770	0.05353	N	0.532231	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.32508	-0.9904	10	0.39692	T	0.17	1.1073	6.4047	0.21658	0.0:0.2197:0.1489:0.6314	.	409;409	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	H	409	ENSP00000367950:Q409H;ENSP00000324245:Q409H	ENSP00000324245:Q409H	Q	-	3	2	SHROOM1	132188220	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.330000	0.02675	-1.070000	0.03149	-0.367000	0.07326	CAG	.		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		A	132160321	C	A	132160321	3	1	31	1	0	0	0	0	1	0	0	0	14338	680	24	3	1351	3	SHROOM1	5	132160321	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	219665	132160321	48754939	824	6376											
GDF9	2661	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	132199862	132199862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagcctgcttgtgccGggtacagggggtgaagagcc	17	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:132199862G>A	ENST00000378673.2	-	2	1230	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	GDF9_ENST00000296875.2_Missense_Mutation_p.R122W|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R122W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTGTGCCGGGTACAGGGG	0.463																																					p.R122W		.											.	GDF9-227	1	Substitution - Missense(1)	lung(1)	c.C364T						.						110	124	119					5																	132199862		2203	4300	6503	SO:0001583	missense	2661	exon1			TGTGCCGGGTACA		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.364C>T	5.37:g.132199862G>A	ENSP00000367942:p.Arg122Trp	Somatic	156	1		WXS	Illumina GAIIx	Phase_I	135	23	NM_005260	0	0	0	0	0	Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870921	0.51695	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59906	0.23;0.23	5.61	4.69	0.59074	.	0.400271	0.24909	N	0.034632	T	0.28300	0.0699	N	0.08118	0	0.19945	N	0.99994	P	0.40602	0.723	B	0.20577	0.03	T	0.30621	-0.9972	10	0.66056	D	0.02	.	9.2185	0.37362	0.0:0.2824:0.5856:0.1321	.	122	O60383	GDF9_HUMAN	W	122	ENSP00000367942:R122W;ENSP00000296875:R122W	ENSP00000296875:R122W	R	-	1	2	GDF9	132227761	0.970000	0.33590	0.868000	0.34077	0.993000	0.82548	2.291000	0.43540	2.629000	0.89072	0.655000	0.94253	CGG	.		0.463	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		A	132199862	G	A	132199862	3	1	31	1	0	0	0	0	1	0	0	0	6345	1115	39	1	1008	1	GDF9	5	132199862	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	39541	132199862	48715398	825	6377											
TXNDC15	79770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	134235224	134235224	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtaactcaagccgaccaaaTaggccctcttcccagcactt	7	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:134235224T>A	ENST00000358387.4	+	5	1557	c.932T>A	c.(931-933)aTa>aAa	p.I311K	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I288K	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	311					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGACCAAATAGGCCCTCTT	0.383																																					p.I311K		.											.	TXNDC15-154	0			c.T932A						.						118	115	116					5																	134235224		2203	4300	6503	SO:0001583	missense	79770	exon5			ACCAAATAGGCCC	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.932T>A	5.37:g.134235224T>A	ENSP00000351157:p.Ile311Lys	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	89	18	NM_024715	0	0	0	0	0	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.848|0.848|0.848	-0.739427|-0.739427|-0.739427	0.03088|0.03088|0.03088	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000509954|ENST00000508779	T;T|.|.	0.42900|.|.	0.96;0.97|.|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	0.623617|.|.	0.17589|.|.	N|.|.	0.168826|.|.	T|T|.	0.20047|0.20047|.	0.0482|0.0482|.	N|N|N	0.12182|0.12182|0.12182	0.205|0.205|0.205	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|.|.	0.14438|.|.	0.01|.|.	B|.|.	0.06405|.|.	0.002|.|.	T|T|.	0.15150|0.15150|.	-1.0447|-1.0447|.	10|5|.	0.05436|.|.	T|.|.	0.98|.|.	-15.4228|-15.4228|-15.4228	5.239|5.239|5.239	0.15462|0.15462|0.15462	0.2609:0.0773:0.0:0.6618|0.2609:0.0773:0.0:0.6618|0.2609:0.0773:0.0:0.6618	.|.|.	311|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	K|K|K	295;311;288|65|295	ENSP00000351157:I311K;ENSP00000443942:I288K|.|.	ENSP00000351157:I311K|.|.	I|N|X	+|+|+	2|3|1	0|2|0	TXNDC15|TXNDC15|TXNDC15	134263123|134263123|134263123	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.189000|0.189000|0.189000	0.17037|0.17037|0.17037	2.194000|2.194000|2.194000	0.70268|0.70268|0.70268	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|AAT|TAG	.		0.383	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		A	134235224	T	A	134235224	3	1	31	1	0	0	0	0	1	0	0	0	16843	1406	49	5	950	5	TXNDC15	5	134235224	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2035362	134235224	46680036	826	6378											
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	135692848	135692848	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagcgttctgccccatGtagtccacacagttgaagtt	10	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:135692848G>C	ENST00000513104.1	-	2	510	c.228C>G	c.(226-228)taC>taG	p.Y76*	TRPC7_ENST00000355180.3_Nonsense_Mutation_p.Y76*|TRPC7_ENST00000426057.2_Nonsense_Mutation_p.Y76*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	76					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.Y76*(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGCCCCATGTAGTCCACAC	0.607																																					p.Y76X		.											.	.	2	Substitution - Nonsense(2)	endometrium(2)	c.C228G						.						85	96	92					5																	135692848		2200	4297	6497	SO:0001587	stop_gained	57113	exon2			CCCCATGTAGTCC	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.228C>G	5.37:g.135692848G>C	ENSP00000426070:p.Tyr76*	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	167	28	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.431091|5.431091	0.96150|0.96150	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|.	.|.	.|.	5.0|5.0	3.18|3.18	0.36537|0.36537	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.22704|.	0.0548|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31806|.	-0.9930|.	3|.	.|0.02654	.|T	.|1	-20.7674|-20.7674	9.466|9.466	0.38813|0.38813	0.2833:0.0:0.7167:0.0|0.2833:0.0:0.7167:0.0	.|.	.|.	.|.	.|.	D|X	76|76	.|.	.|ENSP00000265193:Y76X	H|Y	-|-	1|3	0|2	TRPC7|TRPC7	135720747|135720747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.919000|0.919000	0.28692|0.28692	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	CAT|TAC	.		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		C	135692848	G	C	135692848	4	2	31	1	0	0	0	0	0	1	0	0	16632	1372	48	3	2404	3	TRPC7	5	135692848	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1457624	135692848	45222412	827	6379											
TRPC7	57113	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	135692905	135692905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcattttccggaccacCgggatgttgccatactcagc	9	14	1	0	rs372427444		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:135692905C>A	ENST00000513104.1	-	2	453	c.171G>T	c.(169-171)ccG>ccT	p.P57P	TRPC7_ENST00000355180.3_Silent_p.P57P|TRPC7_ENST00000426057.2_Silent_p.P57P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	57					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)			TCCGGACCACCGGGATGTTGC	0.607																																					p.P57P		.											.	.	0			c.G171T						.						95	107	103					5																	135692905		2161	4277	6438	SO:0001819	synonymous_variant	57113	exon2			GACCACCGGGATG	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.171G>T	5.37:g.135692905C>A		Somatic	158	1		WXS	Illumina GAIIx	Phase_I	150	33	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	7.120	0.577765	0.13686	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.1038	1.1571	0.01798	0.3075:0.1523:0.1388:0.4014	.	.	.	.	C	57	.	.	G	-	1	0	TRPC7	135720804	0.000000	0.05858	0.113000	0.21522	0.995000	0.86356	-9.352000	0.00012	-2.615000	0.00443	0.655000	0.94253	GGT	.		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692905	C	A	135692905	2	1	31	1	0	0	0	0	0	0	0	1	16632	639	23	2		2	TRPC7	5	135692905	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	57	135692905	45222355	828	6380											
EGR1	1958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	137802588	137802588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagtggcaacaccttgtgGcccgagcccctcttcagctt	9	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:137802588G>T	ENST00000239938.4	+	2	722	c.450G>T	c.(448-450)tgG>tgT	p.W150C		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	150					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W150*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACACCTTGTGGCCCGAGCCCC	0.632																																					p.W150C		.											.	EGR1-227	1	Substitution - Nonsense(1)	large_intestine(1)	c.G450T						.						94	99	97					5																	137802588		2203	4300	6503	SO:0001583	missense	1958	exon2			CTTGTGGCCCGAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.450G>T	5.37:g.137802588G>T	ENSP00000239938:p.Trp150Cys	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	109	17	NM_001964	0	0	0	0	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621211	0.66787	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.38560	1.13	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.64404	1.975	0.80722	D	1	B	0.32543	0.375	B	0.34242	0.178	T	0.46512	-0.9186	10	0.44086	T	0.13	-5.869	18.0413	0.89319	0.0:0.0:1.0:0.0	.	150	P18146	EGR1_HUMAN	C	150	ENSP00000239938:W150C	ENSP00000239938:W150C	W	+	3	0	EGR1	137830487	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.876000	0.87215	2.251000	0.74343	0.462000	0.41574	TGG	.		0.632	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		T	137802588	G	T	137802588	3	4	31	1	0	0	0	0	1	0	0	0	4985	1212	42	3	456	3	EGR1	5	137802588	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2109683	137802588	43112672	829	6381											
PCDHA1	56147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140167127	140167127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccctggatcgcgagagcCtgtcggtctatgagctggtg	16	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140167127C>T	ENST00000504120.2	+	1	1252	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	PCDHA1_ENST00000378133.3_Silent_p.L418L|PCDHA1_ENST00000394633.3_Silent_p.L418L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGAGAGCCTGTCGGTCTA	0.622																																					p.L418L		.											.	PCDHA1-23	0			c.C1252T						.						126	123	124					5																	140167127		2203	4300	6503	SO:0001819	synonymous_variant	56147	exon1			GAGAGCCTGTCGG	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1252C>T	5.37:g.140167127C>T		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	245	60	NM_031411	0	0	0	0	0	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																			.		0.622	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167127	C	T	140167127	2	4	31	1	0	0	0	0	0	0	0	1	11558	680	24	3		3	PCDHA1	5	140167127	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2364539	140167127	40748133	830	6382											
PCDHA2	56146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140176290	140176290	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgcagtgagtgagctgGtgccgtggtcggtgggtgca	20	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140176290G>C	ENST00000526136.1	+	1	1741	c.1741G>C	c.(1741-1743)Gtg>Ctg	p.V581L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V581L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V581L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	581					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGAGCTGGTGCCGTGGTC	0.662																																					p.V581L		.											.	PCDHA2-94	0			c.G1741C						.						111	103	106					5																	140176290		2203	4299	6502	SO:0001583	missense	56146	exon1			GAGCTGGTGCCGT	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1741G>C	5.37:g.140176290G>C	ENSP00000431748:p.Val581Leu	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	412	98	NM_031495	0	0	0	0	0	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	3.588	-0.084122	0.07097	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.44881	0.91;0.91;0.91	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.000000	0.35870	U	0.002928	T	0.28962	0.0719	N	0.25245	0.725	0.26191	N	0.979583	B;B;B	0.31256	0.316;0.237;0.316	B;B;B	0.30495	0.101;0.116;0.101	T	0.33033	-0.9884	10	0.52906	T	0.07	.	12.9003	0.58121	0.0:0.0:0.8377:0.1623	.	581;581;581	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	581	ENSP00000430584:V581L;ENSP00000367372:V581L;ENSP00000431748:V581L	ENSP00000367372:V581L	V	+	1	0	PCDHA2	140156474	0.025000	0.19082	0.078000	0.20375	0.005000	0.04900	0.868000	0.27982	1.917000	0.55516	0.549000	0.68633	GTG	.		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		C	140176290	G	C	140176290	3	2	31	1	0	0	0	0	1	0	0	0	11563	1261	44	3	1743	3	PCDHA2	5	140176290	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9163	140176290	40738970	831	6383											
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140181421	140181421	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcattatttactaataacAgcaattgatggtgggaaacc	8	6	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140181421A>T	ENST00000522353.2	+	1	639	c.639A>T	c.(637-639)acA>acT	p.T213T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.T213T	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTAATAACAGCAATTGATG	0.398																																					p.T213T		.											.	PCDHA3-98	0			c.A639T						.						60	63	62					5																	140181421		2203	4300	6503	SO:0001819	synonymous_variant	56145	exon1			AATAACAGCAATT	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.639A>T	5.37:g.140181421A>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	51	24	NM_031497	0	0	0	0	0	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			.		0.398	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140181421	A	T	140181421	2	4	31	1	0	0	0	0	0	0	0	1	11564	175	7	5		5	PCDHA3	5	140181421	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	5131	140181421	40733839	832	6384											
PCDHA4	56144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140187138	140187138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttccatgtggacgtggaGgtgagggacattaacgataa	14	5	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140187138G>A	ENST00000530339.1	+	1	366	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PCDHA4_ENST00000512229.2_Silent_p.E122E|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.E122E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGTGGAGGTGAGGGACA	0.602																																					p.E122E		.											.	PCDHA4-96	0			c.G366A						.						75	78	77					5																	140187138		2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			CGTGGAGGTGAGG	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.366G>A	5.37:g.140187138G>A		Somatic	263	0		WXS	Illumina GAIIx	Phase_I	234	59	NM_031500	0	0	0	0	0	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.		0.602	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140187138	G	A	140187138	2	1	31	1	0	0	0	0	0	0	0	1	11565	991	35	3		3	PCDHA4	5	140187138	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5717	140187138	40728122	833	6385											
PCDHA6	56142	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140208235	140208235	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagatgtgaaaataaacagtGatgacaataaacaaattggg	9	3	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140208235G>A	ENST00000529310.1	+	1	673	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D187N|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(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)			AATAAACAGTGATGACAATAA	0.443																																					p.D187N		.											.	PCDHA6-92	0			c.G559A						.						67	72	70					5																	140208235		2203	4300	6503	SO:0001583	missense	56142	exon1			AACAGTGATGACA	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.559G>A	5.37:g.140208235G>A	ENSP00000433378:p.Asp187Asn	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	118	27	NM_031849	0	0	0	0	0	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178095	0.21787	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.19938	2.11;2.11	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.682376	0.11747	U	0.533374	T	0.24928	0.0605	M	0.73217	2.22	0.09310	N	1	B;B;B	0.19706	0.03;0.038;0.016	B;B;B	0.28709	0.056;0.093;0.028	T	0.16424	-1.0403	10	0.48119	T	0.1	.	5.904	0.18982	0.111:0.3654:0.5236:0.0	.	187;187;187	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	N	187	ENSP00000433378:D187N;ENSP00000434113:D187N	ENSP00000434113:D187N	D	+	1	0	PCDHA6	140188419	0.964000	0.33143	0.999000	0.59377	0.620000	0.37586	3.103000	0.50298	2.139000	0.66308	0.313000	0.20887	GAT	.		0.443	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140208235	G	A	140208235	3	1	31	1	0	0	0	0	1	0	0	0	11567	1290	45	3	561	3	PCDHA6	5	140208235	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	21097	140208235	40707025	834	6386											
PCDHA8	56140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140223235	140223235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggccttcagcccctgccttCctcctgatctgggatcagtt	9	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140223235C>A	ENST00000531613.1	+	1	2329	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777T|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	777	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGCCTTCCTCCTGATCT	0.502																																					p.P777T		.											.	PCDHA8-92	0			c.C2329A						.						56	57	57					5																	140223235		2196	4263	6459	SO:0001583	missense	56140	exon1			TGCCTTCCTCCTG	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2329C>A	5.37:g.140223235C>A	ENSP00000434655:p.Pro777Thr	Somatic	475	0		WXS	Illumina GAIIx	Phase_I	490	102	NM_031856	0	0	0	0	0	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061294	0.19987	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.12774	2.65;2.65	3.06	3.06	0.35304	.	0.211711	0.23325	N	0.049414	T	0.19805	0.0476	M	0.72118	2.19	0.31866	N	0.620402	B;P	0.36027	0.009;0.533	B;B	0.39805	0.052;0.31	T	0.21586	-1.0241	10	0.54805	T	0.06	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	777;777	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	777	ENSP00000434655:P777T;ENSP00000367363:P777T	ENSP00000367363:P777T	P	+	1	0	PCDHA8	140203419	0.136000	0.22515	0.315000	0.25238	0.468000	0.32798	0.864000	0.27926	1.692000	0.51112	0.460000	0.39030	CCT	.		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		A	140223235	C	A	140223235	3	1	31	1	0	0	0	0	1	0	0	0	11569	855	30	3	2331	3	PCDHA8	5	140223235	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	15000	140223235	40692025	835	6387											
PCDHA10	56139	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140237814	140237814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggcggcgcccaccgaGggcgcatgtgggccggtgaa	18	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140237814G>T	ENST00000307360.5	+	1	2181	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	727					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCACCGAGGGCGCATGTG	0.657																																					p.E727D		.											.	PCDHA10-99	0			c.G2181T						.						27	26	27					5																	140237814		1321	2290	3611	SO:0001583	missense	56139	exon1			CACCGAGGGCGCA	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2181G>T	5.37:g.140237814G>T	ENSP00000304234:p.Glu727Asp	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	309	164	NM_031859	0	0	0	0	0	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.463691	0.01062	.	.	ENSG00000250120	ENST00000307360	T	0.13538	2.58	3.66	0.856	0.19019	.	.	.	.	.	T	0.10465	0.0256	L	0.49699	1.58	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.20384	0.029;0.005	T	0.41324	-0.9515	9	0.15499	T	0.54	.	3.4076	0.07347	0.3494:0.2009:0.4497:0.0	.	727;727	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	D	727	ENSP00000304234:E727D	ENSP00000304234:E727D	E	+	3	2	PCDHA10	140217998	0.016000	0.18221	0.682000	0.30024	0.048000	0.14542	0.162000	0.16501	0.343000	0.23821	-0.339000	0.08088	GAG	.		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140237814	G	T	140237814	3	4	31	1	0	0	0	0	1	0	0	0	11559	991	35	3	2183	3	PCDHA10	5	140237814	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	14579	140237814	40677446	836	6388											
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140249406	140249406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggatgtcaacgacaatgatCcagagtttgataaatcagaa	9	6	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140249406C>A	ENST00000398640.2	+	1	718	c.718C>A	c.(718-720)Cca>Aca	p.P240T	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAATGATCCAGAGTTTGA	0.448																																					p.P240T		.											.	PCDHA11-67	0			c.C718A						.						28	27	27					5																	140249406		1876	4125	6001	SO:0001583	missense	56138	exon1			AATGATCCAGAGT	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.718C>A	5.37:g.140249406C>A	ENSP00000381636:p.Pro240Thr	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	153	66	NM_018902	0	0	0	0	0	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647264	0.47258	.	.	ENSG00000249158	ENST00000398640	D	0.84730	-1.89	5.71	5.71	0.89125	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96546	0.8873	H	0.99697	4.71	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98196	1.0465	9	0.87932	D	0	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	240;240	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	240	ENSP00000381636:P240T	ENSP00000381636:P240T	P	+	1	0	PCDHA11	140229590	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	7.275000	0.78548	2.707000	0.92482	0.655000	0.94253	CCA	.		0.448	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140249406	C	A	140249406	3	1	31	1	0	0	0	0	1	0	0	0	11560	855	30	3	720	3	PCDHA11	5	140249406	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11592	140249406	40665854	837	6389											
PCDHB1	29930	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140433080	140433080	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagccctacctgcagttccaGgatccaaccaagcattctag	8	14	1	0	rs36090285	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140433080G>C	ENST00000306549.3	+	1	2102	c.2025G>C	c.(2023-2025)caG>caC	p.Q675H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	675					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTTCCAGGATCCAACCA	0.448																																					p.Q675H		.											.	PCDHB1-90	0			c.G2025C						.						153	150	151					5																	140433080		2203	4300	6503	SO:0001583	missense	29930	exon1			GTTCCAGGATCCA	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2025G>C	5.37:g.140433080G>C	ENSP00000307234:p.Gln675His	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	150	73	NM_013340	0	0	0	0	0	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	9.365	1.068893	0.20147	.	.	ENSG00000171815	ENST00000306549	T	0.50277	0.75	6.08	3.11	0.35812	.	0.327071	0.21112	N	0.079961	T	0.30008	0.0751	N	0.22421	0.69	0.24268	N	0.995254	B	0.09022	0.002	B	0.08055	0.003	T	0.19160	-1.0314	10	0.72032	D	0.01	.	5.9767	0.19385	0.0711:0.2476:0.554:0.1274	.	675	Q9Y5F3	PCDB1_HUMAN	H	675	ENSP00000307234:Q675H	ENSP00000307234:Q675H	Q	+	3	2	PCDHB1	140413264	0.334000	0.24739	0.959000	0.39883	0.914000	0.54420	0.914000	0.28624	1.564000	0.49628	0.655000	0.94253	CAG	G|0.995;A|0.005		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		C	140433080	G	C	140433080	3	2	31	1	0	0	0	0	1	0	0	0	11573	991	35	3	2027	3	PCDHB1	5	140433080	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	183674	140433080	40482180	838	6390											
PCDHB4	56131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140502574	140502574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttctggaaaaggcactGtagtcatagaggtggtggat	14	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140502574G>A	ENST00000194152.1	+	1	994	c.994G>A	c.(994-996)Gta>Ata	p.V332I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAGGCACTGTAGTCATAGA	0.413																																					p.V332I		.											.	PCDHB4-93	0			c.G994A						.						167	181	176					5																	140502574		2203	4300	6503	SO:0001583	missense	56131	exon1			GGCACTGTAGTCA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.994G>A	5.37:g.140502574G>A	ENSP00000194152:p.Val332Ile	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	157	63	NM_018938	0	0	0	0	0	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811115	0.50421	.	.	ENSG00000081818	ENST00000194152	T	0.59906	0.23	4.41	4.41	0.53225	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.62368	0.2422	L	0.56396	1.775	0.40843	D	0.98368	B	0.22983	0.078	B	0.36766	0.232	T	0.65059	-0.6260	9	0.52906	T	0.07	.	17.5536	0.87884	0.0:0.0:1.0:0.0	.	332	Q9Y5E5	PCDB4_HUMAN	I	332	ENSP00000194152:V332I	ENSP00000194152:V332I	V	+	1	0	PCDHB4	140482758	0.777000	0.28628	0.948000	0.38648	0.937000	0.57800	1.358000	0.34102	2.449000	0.82847	0.650000	0.86243	GTA	.		0.413	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502574	G	A	140502574	3	1	31	1	0	0	0	0	1	0	0	0	11583	1377	48	3	996	3	PCDHB4	5	140502574	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	69494	140502574	40412686	839	6391											
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140562215	140562215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcttgtctggggcgggCgccgagttggggtcctattc	17	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562215C>T	ENST00000361016.2	+	1	1236	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	27					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)			CTGGGGCGGGCGCCGAGTTGG	0.488																																					p.G27G		.											.	PCDHB16-92	0			c.C81T						.						103	121	115					5																	140562215		2203	4300	6503	SO:0001819	synonymous_variant	57717	exon1			GGCGGGCGCCGAG	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.81C>T	5.37:g.140562215C>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	130	46	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.		0.488	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140562215	C	T	140562215	2	4	31	1	0	0	0	0	0	0	0	1	11580	755	27	1		1	PCDHB16	5	140562215	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	59641	140562215	40353045	840	6392											
PCDHB16	57717	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr5	140562775	140562775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actaagattaaccctgacagCgctggatggtggctctccac	10	12	1	2	rs139379718	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562775C>G	ENST00000361016.2	+	1	1796	c.641C>G	c.(640-642)gCg>gGg	p.A214G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTGACAGCGCTGGATGGT	0.507																																					p.A214G		.											.	PCDHB16-92	0			c.C641G						.						65	65	65					5																	140562775		2203	4300	6503	SO:0001583	missense	57717	exon1			TGACAGCGCTGGA	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.641C>G	5.37:g.140562775C>G	ENSP00000354293:p.Ala214Gly	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	65	13	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417484	0.62622	.	.	ENSG00000196963	ENST00000361016	T	0.37235	1.21	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.000000	0.34200	N	0.004161	T	0.73583	0.3605	H	0.97077	3.935	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.84576	0.0658	10	0.87932	D	0	.	17.6048	0.88035	0.0:1.0:0.0:0.0	.	214	Q9NRJ7	PCDBG_HUMAN	G	214	ENSP00000354293:A214G	ENSP00000354293:A214G	A	+	2	0	PCDHB16	140542959	1.000000	0.71417	0.138000	0.22173	0.050000	0.14768	6.011000	0.70760	2.139000	0.66308	0.655000	0.94253	GCG	C|0.997;T|0.003		0.507	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140562775	C	G	140562775	3	3	31	1	0	0	0	0	1	0	0	0	11580	768	27	2	643	2	PCDHB16	5	140562775	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	560	140562775	40352485	841	6393											
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140562794	140562794	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggatggtggctctccAccgcgatctggaactgctca	13	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562794A>T	ENST00000361016.2	+	1	1815	c.660A>T	c.(658-660)ccA>ccT	p.P220P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCTCTCCACCGCGATCTG	0.512																																					p.P220P		.											.	PCDHB16-92	0			c.A660T						.						65	64	64					5																	140562794		2203	4300	6503	SO:0001819	synonymous_variant	57717	exon1			CTCTCCACCGCGA	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.660A>T	5.37:g.140562794A>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	73	12	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.		0.512	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140562794	A	T	140562794	2	4	31	1	0	0	0	0	0	0	0	1	11580	146	6	5		5	PCDHB16	5	140562794	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	19	140562794	40352466	842	6394											
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr5	140563800	140563800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctggtgctggacgccaacGacaactcgcccttcgtgctg	12	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140563800G>T	ENST00000361016.2	+	1	2821	c.1666G>T	c.(1666-1668)Gac>Tac	p.D556Y		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GGACGCCAACGACAACTCGCC	0.711																																					p.D556Y		.											.	PCDHB16-92	0			c.G1666T						.						11	12	12					5																	140563800		1867	3734	5601	SO:0001583	missense	57717	exon1			GCCAACGACAACT	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.1666G>T	5.37:g.140563800G>T	ENSP00000354293:p.Asp556Tyr	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	222	90	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.738326	0.89573	.	.	ENSG00000196963	ENST00000361016	T	0.76316	-1.01	4.12	4.12	0.48240	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36374	N	0.002625	D	0.93539	0.7938	H	0.99752	4.75	0.51767	D	0.999939	D	0.89917	1.0	D	0.80764	0.994	D	0.96772	0.9569	10	0.87932	D	0	.	16.0538	0.80779	0.0:0.0:1.0:0.0	.	556	Q9NRJ7	PCDBG_HUMAN	Y	556	ENSP00000354293:D556Y	ENSP00000354293:D556Y	D	+	1	0	PCDHB16	140543984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.422000	0.80217	1.860000	0.53959	0.479000	0.44913	GAC	.		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563800	G	T	140563800	3	4	31	1	0	0	0	0	1	0	0	0	11580	1058	37	2	1668	2	PCDHB16	5	140563800	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1006	140563800	40351460	843	6395											
PCDHB10	56126	broad.mit.edu;mdanderson.org	37	chr5	140573502	140573502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaacctcctacaccctgttCgtccgcgagaacaacagccc	6	18	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140573502C>A	ENST00000239446.4	+	1	1561	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632																																					p.F459L		.											.	PCDHB10-92	0			c.C1377A						.						45	50	48					5																	140573502		2203	4290	6493	SO:0001583	missense	56126	exon1			CCTGTTCGTCCGC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1377C>A	5.37:g.140573502C>A	ENSP00000239446:p.Phe459Leu	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	134	34	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	5.920	0.353741	0.11182	.	.	ENSG00000120324	ENST00000239446	T	0.02974	4.09	3.22	-5.62	0.02481	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03178	0.0093	L	0.39514	1.22	0.09310	N	1	B	0.15930	0.015	B	0.21917	0.037	T	0.35475	-0.9787	9	0.62326	D	0.03	.	12.0358	0.53425	0.0:0.1862:0.6593:0.1544	.	459	Q9UN67	PCDBA_HUMAN	L	459	ENSP00000239446:F459L	ENSP00000239446:F459L	F	+	3	2	PCDHB10	140553686	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-7.055000	0.00045	-1.507000	0.01803	-0.274000	0.10170	TTC	.		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573502	C	A	140573502	3	1	31	1	0	0	0	0	1	0	0	0	11574	883	31	2	1379	2	PCDHB10	5	140573502	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9702	140573502	40341758	844	6396											
PCDHB10	56126	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr5	140573565	140573565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgccacagacagagactcGggcaccaacgcccaggtcac	11	16	1	2	rs17844567	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140573565G>T	ENST00000239446.4	+	1	1624	c.1440G>T	c.(1438-1440)tcG>tcT	p.S480S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S480S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCGGGCACCAACG	0.672																																					p.S480S		.											.	PCDHB10-92	1	Substitution - coding silent(1)	lung(1)	c.G1440T						.						63	76	71					5																	140573565		2202	4298	6500	SO:0001819	synonymous_variant	56126	exon1			AGACTCGGGCACC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1440G>T	5.37:g.140573565G>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	241	63	NM_018930	0	0	0	0	0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			G|0.680;A|0.320		0.672	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573565	G	T	140573565	2	4	31	1	0	0	0	0	0	0	0	1	11574	1103	39	2		2	PCDHB10	5	140573565	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	63	140573565	40341695	845	6397											
PCDHB10	56126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140574448	140574448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttgaaaccagttatttcgGatattcaggcacagggccct	9	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140574448G>T	ENST00000239446.4	+	1	2507	c.2323G>T	c.(2323-2325)Gat>Tat	p.D775Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	775					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTATTTCGGATATTCAGGC	0.483																																					p.D775Y		.											.	PCDHB10-92	0			c.G2323T						.						58	66	63					5																	140574448		2203	4300	6503	SO:0001583	missense	56126	exon1			ATTTCGGATATTC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2323G>T	5.37:g.140574448G>T	ENSP00000239446:p.Asp775Tyr	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	141	55	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866014	0.17250	.	.	ENSG00000120324	ENST00000239446	T	0.49720	0.77	3.61	-0.548	0.11833	.	.	.	.	.	T	0.37210	0.0995	L	0.48362	1.52	0.09310	N	1	B	0.17667	0.023	B	0.24974	0.057	T	0.41413	-0.9510	9	0.87932	D	0	.	3.9329	0.09293	0.551:0.1933:0.2558:0.0	.	775	Q9UN67	PCDBA_HUMAN	Y	775	ENSP00000239446:D775Y	ENSP00000239446:D775Y	D	+	1	0	PCDHB10	140554632	0.008000	0.16893	0.000000	0.03702	0.016000	0.09150	1.237000	0.32695	-0.180000	0.10637	0.461000	0.40582	GAT	.		0.483	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140574448	G	T	140574448	3	4	31	1	0	0	0	0	1	0	0	0	11574	1174	41	3	2325	3	PCDHB10	5	140574448	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	883	140574448	40340812	846	6398											
PCDHB13	56123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140595009	140595009	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataacacagctcaatatgacCgtgctgatcgccgatgtcaa	8	11	2	2	rs201145725		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140595009C>G	ENST00000341948.4	+	1	1501	c.1314C>G	c.(1312-1314)acC>acG	p.T438T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T438>?(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATATGACCGTGCTGATCG	0.547																																					p.T438T		.											.	PCDHB13-93	1	Complex(1)	lung(1)	c.C1314G						.						145	128	134					5																	140595009		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			TATGACCGTGCTG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1314C>G	5.37:g.140595009C>G		Somatic	235	0		WXS	Illumina GAIIx	Phase_I	227	46	NM_018933	0	0	0	0	0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			C|0.999;T|0.000		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		G	140595009	C	G	140595009	2	3	31	1	0	0	0	0	0	0	0	1	11577	639	23	2		2	PCDHB13	5	140595009	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	20561	140595009	40320251	847	6399											
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140595284	140595284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggggttccagttccGcgtgggcgcttcagaccacg	14	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140595284G>T	ENST00000341948.4	+	1	1776	c.1589G>T	c.(1588-1590)cGc>cTc	p.R530L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCAGTTCCGCGTGGGCGCT	0.672																																					p.R530L		.											.	PCDHB13-93	0			c.G1589T						.						58	66	63					5																	140595284		2203	4300	6503	SO:0001583	missense	56123	exon1			AGTTCCGCGTGGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1589G>T	5.37:g.140595284G>T	ENSP00000345491:p.Arg530Leu	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	443	198	NM_018933	0	0	0	0	0	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	9.988	1.230044	0.22542	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01665	4.7	3.42	-2.6	0.06190	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00906	0.0030	N	0.11341	0.13	0.09310	N	1	B	0.18968	0.032	B	0.19666	0.026	T	0.48948	-0.8989	9	0.18710	T	0.47	.	1.2558	0.01991	0.348:0.254:0.2743:0.1237	.	530	Q9Y5F0	PCDBD_HUMAN	L	530	ENSP00000345491:R530L	ENSP00000345491:R530L	R	+	2	0	PCDHB13	140575468	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.201000	0.01236	-0.204000	0.10235	-0.556000	0.04195	CGC	.		0.672	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595284	G	T	140595284	3	4	31	1	0	0	0	0	1	0	0	0	11577	1087	38	2	1591	2	PCDHB13	5	140595284	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	275	140595284	40319976	848	6400											
PCDHB14	56122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140604121	140604121	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaacccaccagaagtgacCatatcgtcgattacaaagag	8	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140604121C>A	ENST00000239449.4	+	1	1044	c.1044C>A	c.(1042-1044)acC>acA	p.T348T	PCDHB14_ENST00000515856.2_Silent_p.T195T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	348					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAAGTGACCATATCGTCGA	0.423																																					p.T348T	Ovarian(141;50 1831 27899 33809 37648)	.											.	PCDHB14-91	0			c.C1044A						.						87	95	92					5																	140604121		2203	4300	6503	SO:0001819	synonymous_variant	56122	exon1			AGTGACCATATCG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1044C>A	5.37:g.140604121C>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	76	11	NM_018934	0	0	0	0	0	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			.		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140604121	C	A	140604121	2	1	31	1	0	0	0	0	0	0	0	1	11578	581	21	3		3	PCDHB14	5	140604121	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8837	140604121	40311139	849	6401											
PCDHB15	56121	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140625197	140625197	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaaggcaagtcctgattctCcttcttttactggaagtgac	8	10	2	2	rs149965698	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140625197C>A	ENST00000231173.3	+	1	51	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	17					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGATTCTCCTTCTTTTAC	0.522																																					p.L17L		.											.	PCDHB15-156	0			c.C51A						.						67	73	71					5																	140625197		2203	4300	6503	SO:0001819	synonymous_variant	56121	exon1			GATTCTCCTTCTT	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.51C>A	5.37:g.140625197C>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	64	30	NM_018935	0	0	0	0	0	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			C|1.000;T|0.000		0.522	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		A	140625197	C	A	140625197	2	1	31	1	0	0	0	0	0	0	0	1	11579	842	30	3		3	PCDHB15	5	140625197	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	21076	140625197	40290063	850	6402											
PCDHGA1	56114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140710828	140710828	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccgatgggcctcaacatccaGagatggtgctgcagagtccc	12	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140710828G>C	ENST00000517417.1	+	1	577	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E193Q	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAACATCCAGAGATGGTGCT	0.542																																					p.E193Q		.											.	PCDHGA1-137	0			c.G577C						.						79	72	75					5																	140710828		2203	4300	6503	SO:0001583	missense	56114	exon1			CATCCAGAGATGG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.577G>C	5.37:g.140710828G>C	ENSP00000431083:p.Glu193Gln	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	89	20	NM_018912	0	0	0	0	0	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140315	0.77775	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.21932	1.98;1.98	4.2	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.52517	0.1739	M	0.89353	3.025	0.32425	N	0.548771	D;D	0.76494	0.997;0.999	D;D	0.70487	0.969;0.967	T	0.69584	-0.5106	10	0.87932	D	0	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	193;193	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	193	ENSP00000431083:E193Q;ENSP00000367345:E193Q	ENSP00000367345:E193Q	E	+	1	0	PCDHGA1	140691012	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.751000	0.85126	2.349000	0.79799	0.655000	0.94253	GAG	.		0.542	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		C	140710828	G	C	140710828	3	2	31	1	0	0	0	0	1	0	0	0	11589	943	33	3	579	3	PCDHGA1	5	140710828	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	85631	140710828	40204432	851	6403											
PCDHGA2	56113	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140720729	140720729	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggcttcaggaggcAgcttgacaggcatgcagagc	15	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140720729A>T	ENST00000394576.2	+	1	2191	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGGAGGCAGCTTGACAGG	0.652																																					p.S731C		.											.	PCDHGA2-71	0			c.A2191T						.						80	84	83					5																	140720729		2203	4300	6503	SO:0001583	missense	56113	exon1			GGAGGCAGCTTGA	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2191A>T	5.37:g.140720729A>T	ENSP00000378077:p.Ser731Cys	Somatic	191	1		WXS	Illumina GAIIx	Phase_I	209	93	NM_018915	0	0	0	0	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.721226	0.48728	.	.	ENSG00000081853	ENST00000394576	T	0.50277	0.75	4.89	-7.17	0.01511	.	1.955520	0.03685	U	0.246159	T	0.45617	0.1351	L	0.43923	1.385	0.09310	N	1	P;P	0.40050	0.663;0.7	P;P	0.52267	0.694;0.474	T	0.54840	-0.8233	10	0.62326	D	0.03	.	1.5583	0.02589	0.246:0.2507:0.3341:0.1692	.	731;731	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	C	731	ENSP00000378077:S731C	ENSP00000378077:S731C	S	+	1	0	PCDHGA2	140700913	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.915000	0.04033	-1.024000	0.03338	-1.338000	0.01255	AGC	.		0.652	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720729	A	T	140720729	3	4	31	1	0	0	0	0	1	0	0	0	11593	188	7	5	2193	5	PCDHGA2	5	140720729	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	9901	140720729	40194531	852	6404											
PCDHGA2	56113	broad.mit.edu;bcgsc.ca	37	chr5	140720802	140720802	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcagacctattcccAcgaggtctccctcactgcgg	8	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140720802A>T	ENST00000394576.2	+	1	2264	c.2264A>T	c.(2263-2265)cAc>cTc	p.H755L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	755					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTATTCCCACGAGGTCTCC	0.602																																					p.H755L		.											.	PCDHGA2-71	0			c.A2264T						.						74	79	77					5																	140720802		2203	4297	6500	SO:0001583	missense	56113	exon1			ATTCCCACGAGGT	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2264A>T	5.37:g.140720802A>T	ENSP00000378077:p.His755Leu	Somatic	186	2		WXS	Illumina GAIIx	Phase_I	199	81	NM_018915	0	0	0	0	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460940	0.63513	.	.	ENSG00000081853	ENST00000394576	T	0.45668	0.89	5.39	5.39	0.77823	.	0.000000	0.42964	U	0.000639	T	0.70587	0.3241	M	0.93763	3.455	0.29006	N	0.887179	P;D	0.62365	0.949;0.991	P;P	0.61592	0.837;0.891	T	0.74711	-0.3573	10	0.87932	D	0	.	15.0706	0.72034	1.0:0.0:0.0:0.0	.	755;755	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	755	ENSP00000378077:H755L	ENSP00000378077:H755L	H	+	2	0	PCDHGA2	140700986	0.999000	0.42202	0.997000	0.53966	0.051000	0.14879	8.314000	0.89980	2.051000	0.60960	0.402000	0.26972	CAC	.		0.602	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140720802	A	T	140720802	3	4	31	1	0	0	0	0	1	0	0	0	11593	159	6	5	2266	5	PCDHGA2	5	140720802	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	73	140720802	40194458	853	6405											
PCDHGA3	56112	broad.mit.edu;mdanderson.org	37	chr5	140725478	140725478	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgcacacgggcgaggtGcgcacggcgcgagccctgct	17	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140725478G>T	ENST00000253812.6	+	1	1878	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	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	626	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGGTGCGCACGGCGC	0.701																																					p.V626V		.											.	PCDHGA3-68	0			c.G1878T						.						8	12	11					5																	140725478		2003	4010	6013	SO:0001819	synonymous_variant	56112	exon1			CGAGGTGCGCACG	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.1878G>T	5.37:g.140725478G>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	435	69	NM_032011	0	0	0	0	0	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725478	G	T	140725478	2	4	31	1	0	0	0	0	0	0	0	1	11594	1306	46	3		3	PCDHGA3	5	140725478	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4676	140725478	40189782	854	6406											
PCDHGB1	56104	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140730366	140730366	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacttctctctgtcaacgaAggaaagtcctgatggaagta	9	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140730366A>T	ENST00000523390.1	+	1	539	c.539A>T	c.(538-540)aAg>aTg	p.K180M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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	180	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)			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)			CTGTCAACGAAGGAAAGTCCT	0.428																																					p.K180M		.											.	PCDHGB1-33	0			c.A539T						.						178	174	175					5																	140730366		1883	4112	5995	SO:0001583	missense	56104	exon1			CAACGAAGGAAAG	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.539A>T	5.37:g.140730366A>T	ENSP00000429273:p.Lys180Met	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	122	36	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.563036	0.45694	.	.	ENSG00000254221	ENST00000523390	T	0.21361	2.01	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54967	0.1891	M	0.91300	3.195	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.934;0.964	T	0.56691	-0.7937	9	0.62326	D	0.03	.	15.3157	0.74074	1.0:0.0:0.0:0.0	.	180;180	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	M	180	ENSP00000429273:K180M	ENSP00000429273:K180M	K	+	2	0	PCDHGB1	140710550	0.090000	0.21635	0.738000	0.30950	0.983000	0.72400	3.262000	0.51538	2.152000	0.67230	0.460000	0.39030	AAG	.		0.428	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140730366	A	T	140730366	3	4	31	1	0	0	0	0	1	0	0	0	11601	72	3	5	541	5	PCDHGB1	5	140730366	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4888	140730366	40184894	855	6407											
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140731133	140731133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggacaagcatcaccCtgcacatctccgacatcaac	5	18	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140731133C>A	ENST00000523390.1	+	1	1306	c.1306C>A	c.(1306-1308)Ctg>Atg	p.L436M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCATCACCCTGCACATCTC	0.552																																					p.L436M		.											.	PCDHGB1-33	0			c.C1306A						.						91	104	100					5																	140731133		2179	4279	6458	SO:0001583	missense	56104	exon1			ATCACCCTGCACA	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.1306C>A	5.37:g.140731133C>A	ENSP00000429273:p.Leu436Met	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	161	76	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	7.932	0.740984	0.15642	.	.	ENSG00000254221	ENST00000523390	T	0.21734	1.99	5.49	0.136	0.14780	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.48926	0.1527	M	0.92555	3.32	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.982;0.989	T	0.28106	-1.0054	9	0.72032	D	0.01	.	5.9339	0.19154	0.2075:0.4103:0.3181:0.0641	.	436;436	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	M	436	ENSP00000429273:L436M	ENSP00000429273:L436M	L	+	1	2	PCDHGB1	140711317	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-1.936000	0.01549	0.025000	0.15241	0.563000	0.77884	CTG	.		0.552	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		A	140731133	C	A	140731133	3	1	31	1	0	0	0	0	1	0	0	0	11601	680	24	3	1308	3	PCDHGB1	5	140731133	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	767	140731133	40184127	856	6408											
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140731260	140731260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcctccgacccggatttggGacccaacggcagagtctcct	11	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140731260G>T	ENST00000523390.1	+	1	1433	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CCGGATTTGGGACCCAACGGC	0.607																																					p.G478V		.											.	PCDHGB1-33	0			c.G1433T						.						39	44	43					5																	140731260		1945	4155	6100	SO:0001583	missense	56104	exon1			ATTTGGGACCCAA	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.1433G>T	5.37:g.140731260G>T	ENSP00000429273:p.Gly478Val	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	120	71	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.525701	0.44969	.	.	ENSG00000254221	ENST00000523390	T	0.67523	-0.27	5.49	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86961	0.6059	H	0.97540	4.025	0.26256	N	0.978645	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.79427	-0.1808	9	0.59425	D	0.04	.	10.6094	0.45412	0.1619:0.0:0.8381:0.0	.	478;478	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	478	ENSP00000429273:G478V	ENSP00000429273:G478V	G	+	2	0	PCDHGB1	140711444	0.430000	0.25538	0.889000	0.34880	0.980000	0.70556	1.059000	0.30517	2.740000	0.93945	0.563000	0.77884	GGA	.		0.607	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140731260	G	T	140731260	3	4	31	1	0	0	0	0	1	0	0	0	11601	1174	41	3	1435	3	PCDHGB1	5	140731260	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	127	140731260	40184000	857	6409											
PCDHGA5	56110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140744142	140744142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgaacccgcgaagcgGcagcttggtcaccgcgggca	14	15	1	1	rs372313739		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140744142G>T	ENST00000518069.1	+	1	245	c.245G>T	c.(244-246)gGc>gTc	p.G82V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	82	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAAGCGGCAGCTTGGTC	0.602																																					p.G82V		.											.	PCDHGA5-35	0			c.G245T						.						52	62	59					5																	140744142		2191	4298	6489	SO:0001583	missense	56110	exon1			GAAGCGGCAGCTT	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.245G>T	5.37:g.140744142G>T	ENSP00000429834:p.Gly82Val	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	113	30	NM_032054	0	0	0	0	0	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	17.87	3.495515	0.64186	.	.	ENSG00000253485	ENST00000518069	T	0.41400	1.0	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82834	0.5123	H	0.99922	4.955	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.91246	0.5025	9	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	82;82	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	82	ENSP00000429834:G82V	ENSP00000429834:G82V	G	+	2	0	PCDHGA5	140724326	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.005000	0.88553	2.694000	0.91930	0.558000	0.71614	GGC	.		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		T	140744142	G	T	140744142	3	4	31	1	0	0	0	0	1	0	0	0	11596	1203	42	3	247	3	PCDHGA5	5	140744142	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	12882	140744142	40171118	858	6410											
PCDHGA5	56110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140745589	140745589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacgcctgagatcctgtaCcccgccctccccacagacgg	8	18	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140745589C>T	ENST00000518069.1	+	1	1692	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	564					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCCTGTACCCCGCCCTCC	0.617																																					p.Y564Y		.											.	PCDHGA5-35	0			c.C1692T						.						145	158	154					5																	140745589		2203	4300	6503	SO:0001819	synonymous_variant	56110	exon1			CCTGTACCCCGCC	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1692C>T	5.37:g.140745589C>T		Somatic	247	0		WXS	Illumina GAIIx	Phase_I	235	96	NM_032054	0	0	0	0	0	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																			.		0.617	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		T	140745589	C	T	140745589	2	4	31	1	0	0	0	0	0	0	0	1	11596	518	18	3		3	PCDHGA5	5	140745589	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1447	140745589	40169671	859	6411											
PCDHGA6	56109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140753654	140753654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaataagccagtaatgGcgcctccgcagaggcatccg	10	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140753654G>T	ENST00000517434.1	+	1	4	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	2					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)			GCCAGTAATGGCGCCTCCGCA	0.567																																					p.A2S		.											.	PCDHGA6-67	0			c.G4T						.						10	12	11					5																	140753654		1922	4137	6059	SO:0001583	missense	56109	exon1			GTAATGGCGCCTC	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.4G>T	5.37:g.140753654G>T	ENSP00000429601:p.Ala2Ser	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	215	46	NM_018919	0	0	0	0	0	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684704	0.68157	.	.	ENSG00000253731	ENST00000517434	T	0.44083	0.93	5.14	5.14	0.70334	.	.	.	.	.	T	0.54498	0.1862	L	0.45422	1.42	0.23496	N	0.997555	D;D	0.61697	0.967;0.99	D;P	0.63113	0.911;0.856	T	0.44667	-0.9313	9	0.36615	T	0.2	.	15.8172	0.78612	0.0:0.0:1.0:0.0	.	2;2	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	2	ENSP00000429601:A2S	ENSP00000429601:A2S	A	+	1	0	PCDHGA6	140733838	0.996000	0.38824	1.000000	0.80357	0.593000	0.36681	2.510000	0.45468	2.823000	0.97156	0.591000	0.81541	GCG	.		0.567	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		T	140753654	G	T	140753654	3	4	31	1	0	0	0	0	1	0	0	0	11597	1203	42	3	6	3	PCDHGA6	5	140753654	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8065	140753654	40161606	860	6412											
PCDHGA7	56108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140762550	140762550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccctgggaagcctgggcAggacgtattctctactccgt	11	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140762550A>G	ENST00000518325.1	+	1	84	c.84A>G	c.(82-84)gcA>gcG	p.A28A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTGGGCAGGACGTATTC	0.642																																					p.A28A		.											.	.	0			c.A84G						.						47	55	53					5																	140762550		1959	4183	6142	SO:0001819	synonymous_variant	56108	exon1			CTGGGCAGGACGT	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.84A>G	5.37:g.140762550A>G		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	119	26	NM_032087	0	0	0	0	0	B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																			.		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		G	140762550	A	G	140762550	2	3	31	1	0	0	0	0	0	0	0	1	11598	175	7	4		4	PCDHGA7	5	140762550	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	8896	140762550	40152710	861	6413											
PCDHGA8	9708	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140773971	140773971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatccgagacctgcagctaCtggtaacagccagcgacagc	11	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140773971C>A	ENST00000398604.2	+	1	1591	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGCTACTGGTAACAGC	0.587																																					p.L531M		.											.	.	0			c.C1591A						.						77	92	87					5																	140773971		2197	4300	6497	SO:0001583	missense	9708	exon1			CAGCTACTGGTAA	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1591C>A	5.37:g.140773971C>A	ENSP00000381605:p.Leu531Met	Somatic	220	1		WXS	Illumina GAIIx	Phase_I	216	86	NM_014004	0	0	0	0	0	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.419044	0.01136	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	5.06	-1.2	0.09554	Cadherin (5);Cadherin-like (1);	1.110330	0.07634	U	0.929083	T	0.39600	0.1084	L	0.61218	1.895	0.09310	N	1	B;B	0.26635	0.155;0.098	B;B	0.29267	0.1;0.038	T	0.33266	-0.9875	10	0.31617	T	0.26	.	1.788	0.03046	0.237:0.4427:0.1151:0.2052	.	531;531	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	531	ENSP00000381605:L531M	ENSP00000381605:L531M	L	+	1	2	PCDHGA8	140754155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.632000	0.05489	-0.653000	0.05401	-0.815000	0.03128	CTG	.		0.587	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140773971	C	A	140773971	3	1	31	1	0	0	0	0	1	0	0	0	11599	564	20	3	1593	3	PCDHGA8	5	140773971	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11421	140773971	40141289	862	6414											
PCDHGA9	56107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140782720	140782720	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcgccgagtccgcatcgtCtctagaggtaggacgcagct	14	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140782720C>T	ENST00000573521.1	+	1	201	c.201C>T	c.(199-201)gtC>gtT	p.V67V	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	67	Cadherin 1. {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)			TCCGCATCGTCTCTAGAGGTA	0.622																																					p.V67V		.											.	.	0			c.C201T						.						62	73	70					5																	140782720		2080	4245	6325	SO:0001819	synonymous_variant	56107	exon1			CATCGTCTCTAGA	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.201C>T	5.37:g.140782720C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	91	22	NM_032089	0	0	0	0	0	A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.		0.622	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		T	140782720	C	T	140782720	2	4	31	1	0	0	0	0	0	0	0	1	11600	900	32	3		3	PCDHGA9	5	140782720	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8749	140782720	40132540	863	6415											
PCDHGA9	56107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140783342	140783342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctggatgagggaatcaacGgaaaagtggcatacaaattc	11	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140783342G>C	ENST00000573521.1	+	1	823	c.823G>C	c.(823-825)Gga>Cga	p.G275R	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|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)			GGGAATCAACGGAAAAGTGGC	0.428																																					p.G275R		.											.	.	0			c.G823C						.						66	70	69					5																	140783342		1845	4093	5938	SO:0001583	missense	56107	exon1			ATCAACGGAAAAG	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.823G>C	5.37:g.140783342G>C	ENSP00000460274:p.Gly275Arg	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	92	19	NM_032089	0	0	0	0	0	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.		0.428	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		C	140783342	G	C	140783342	3	2	31	1	0	0	0	0	1	0	0	0	11600	1117	39	2	825	2	PCDHGA9	5	140783342	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	622	140783342	40131918	864	6416											
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140798387	140798387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatacgataaacatagaaGcaaaagaccgaggatctctc	8	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140798387G>T	ENST00000398594.2	+	1	961	c.961G>T	c.(961-963)Gca>Tca	p.A321S	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	321	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACATAGAAGCAAAAGACCG	0.403																																					p.A321S		.											.	PCDHGB7-29	0			c.G961T						.						73	68	69					5																	140798387		1874	4101	5975	SO:0001583	missense	56099	exon1			ATAGAAGCAAAAG	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.961G>T	5.37:g.140798387G>T	ENSP00000381594:p.Ala321Ser	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	128	20	NM_018927	0	0	0	0	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607777	0.66558	.	.	ENSG00000254122	ENST00000398594	T	0.75477	-0.94	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.253980	0.19616	U	0.110018	D	0.90892	0.7138	H	0.95151	3.63	0.38021	D	0.934843	D;D	0.76494	0.999;0.996	D;D	0.73380	0.98;0.952	D	0.93805	0.7104	10	0.87932	D	0	.	19.4481	0.94855	0.0:0.0:1.0:0.0	.	321;321	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	S	321	ENSP00000381594:A321S	ENSP00000381594:A321S	A	+	1	0	PCDHGB7	140778571	1.000000	0.71417	0.976000	0.42696	0.466000	0.32739	9.722000	0.98770	2.711000	0.92665	0.561000	0.74099	GCA	.		0.403	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		T	140798387	G	T	140798387	3	4	31	1	0	0	0	0	1	0	0	0	11607	971	34	3	963	3	PCDHGB7	5	140798387	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15045	140798387	40116873	865	6417											
PCDHGA12	26025	bcgsc.ca	37	chr5	140812559	140812559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcactttgtgggcgtggacGgggtgcaggctttcctgcag	17	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140812559G>T	ENST00000252085.3	+	1	2375	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	745					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTGGACGGGGTGCAGGC	0.642																																					p.G745W		.											.	PCDHGA12-27	0			c.G2233T						.						74	79	78					5																	140812559		2203	4300	6503	SO:0001583	missense	26025	exon1			GTGGACGGGGTGC	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2233G>T	5.37:g.140812559G>T	ENSP00000252085:p.Gly745Trp	Somatic	108	3		WXS	Illumina GAIIx	Phase_I	128	57	NM_032094	0	0	0	0	0	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797102	0.90453	.	.	ENSG00000253159	ENST00000252085	T	0.53206	0.63	5.23	5.23	0.72850	.	.	.	.	.	T	0.79857	0.4518	H	0.96691	3.865	0.38085	D	0.936787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87987	0.2747	9	0.87932	D	0	.	17.3462	0.87310	0.0:0.0:1.0:0.0	.	745;745	O60330-2;O60330	.;PCDGC_HUMAN	W	745	ENSP00000252085:G745W	ENSP00000252085:G745W	G	+	1	0	PCDHGA12	140792743	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.194000	0.58393	2.588000	0.87417	0.655000	0.94253	GGG	.		0.642	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140812559	G	T	140812559	3	4	31	1	0	0	0	0	1	0	0	0	11592	1116	39	2	2235	2	PCDHGA12	5	140812559	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	14172	140812559	40102701	866	6418											
YIPF5	81555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	143541849	143541849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatatccaaggacacTtgccacacaaccaaatgaaa	5	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:143541849T>A	ENST00000274496.5	-	5	678	c.544A>T	c.(544-546)Agt>Tgt	p.S182C	YIPF5_ENST00000513112.1_Missense_Mutation_p.S128C|YIPF5_ENST00000448443.2_Missense_Mutation_p.S182C	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	182					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAAGGACACTTGCCACACAA	0.383																																					p.S182C		.											.	YIPF5-92	0			c.A544T						.						154	134	141					5																	143541849		2203	4300	6503	SO:0001583	missense	81555	exon5			GGACACTTGCCAC	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.544A>T	5.37:g.143541849T>A	ENSP00000274496:p.Ser182Cys	Somatic	414	0		WXS	Illumina GAIIx	Phase_I	410	107	NM_001024947	0	0	0	0	0	D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987040	0.93106	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.74	5.74	0.90152	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71255	-0.4647	10	0.36615	T	0.2	-36.7297	16.0257	0.80541	0.0:0.0:0.0:1.0	.	182	Q969M3	YIPF5_HUMAN	C	182;182;182;128;128	ENSP00000274496:S182C;ENSP00000397704:S182C;ENSP00000425422:S128C;ENSP00000429777:S128C	ENSP00000274496:S182C	S	-	1	0	YIPF5	143522042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.961000	0.87903	2.187000	0.69744	0.482000	0.46254	AGT	.		0.383	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		A	143541849	T	A	143541849	3	1	31	1	0	0	0	0	1	0	0	0	17530	1609	56	5	237	5	YIPF5	5	143541849	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2729290	143541849	37373411	867	6419											
KCTD16	57528	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	143853384	143853384	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggagacggtcatctgtggtCccgtgacacgccagaccaac	12	13	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:143853384C>G	ENST00000507359.3	+	3	2085	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A	KCTD16_ENST00000512467.1_Missense_Mutation_p.P332A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	332					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATCTGTGGTCCCGTGACACG	0.587																																					p.P332A		.											.	KCTD16-137	0			c.C994G						.						88	82	84					5																	143853384		2203	4300	6503	SO:0001583	missense	57528	exon4			TGTGGTCCCGTGA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.994C>G	5.37:g.143853384C>G	ENSP00000426548:p.Pro332Ala	Somatic	418	1		WXS	Illumina GAIIx	Phase_I	413	68	NM_020768	0	0	0	0	0	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084784	0.76642	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.40756	1.02;1.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	N	0.03608	-0.345	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.47623	-0.9103	10	0.16896	T	0.51	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	332	Q68DU8	KCD16_HUMAN	A	332	ENSP00000424151:P332A;ENSP00000426548:P332A	ENSP00000426548:P332A	P	+	1	0	KCTD16	143833577	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	CCC	.		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		G	143853384	C	G	143853384	3	3	31	1	0	0	0	0	1	0	0	0	8130	855	30	3	1000	3	KCTD16	5	143853384	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	311535	143853384	37061876	868	6420											
LARS	51520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145509683	145509683	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacaagttctctgtgcatCccttccacagccaattcacg	5	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:145509683C>T	ENST00000394434.2	-	25	2692	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	LARS_ENST00000545646.1_Silent_p.G796G|LARS_ENST00000274562.9_Silent_p.G815G|LARS_ENST00000510191.1_Silent_p.G788G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	842					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTCTGTGCATCCCTTCCACAG	0.403																																					p.G842G		.											.	LARS-90	0			c.G2526A						.						117	99	105					5																	145509683		2203	4300	6503	SO:0001819	synonymous_variant	51520	exon25			GTGCATCCCTTCC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2526G>A	5.37:g.145509683C>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	77	37	NM_020117	0	0	0	0	0	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			.		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145509683	C	T	145509683	2	4	31	1	0	0	0	0	0	0	0	1	8662	842	30	3		3	LARS	5	145509683	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1656299	145509683	35405577	869	6421											
SH3TC2	79628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	148406710	148406710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgggctctgttcaagGcccgaagatagctcttggct	11	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148406710G>T	ENST00000515425.1	-	11	2686	c.2585C>A	c.(2584-2586)gCc>gAc	p.A862D	SH3TC2_ENST00000538184.1_Missense_Mutation_p.A409D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A855D|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A747D	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	862					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTCAAGGCCCGAAGATA	0.567																																					p.A862D		.											.	SH3TC2-92	0			c.C2585A						.						132	144	140					5																	148406710		2203	4300	6503	SO:0001583	missense	79628	exon11			TTCAAGGCCCGAA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2585C>A	5.37:g.148406710G>T	ENSP00000423660:p.Ala862Asp	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	138	53	NM_024577	0	0	0	0	0	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933048	0.52866	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26	6.16	6.16	0.99307	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.81497	2.545	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	-17.7779	20.8598	0.99761	0.0:0.0:1.0:0.0	.	747;855;862;862	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	D	409;862;855;747	ENSP00000441427:A409D;ENSP00000423660:A862D;ENSP00000421860:A855D;ENSP00000377886:A747D	ENSP00000377886:A747D	A	-	2	0	SH3TC2	148386903	1.000000	0.71417	0.991000	0.47740	0.557000	0.35523	7.449000	0.80643	2.937000	0.99478	0.650000	0.86243	GCC	.		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		T	148406710	G	T	148406710	3	4	31	1	0	0	0	0	1	0	0	0	14307	1203	42	3	1309	3	SH3TC2	5	148406710	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2897027	148406710	32508550	870	6422											
SH3TC2	79628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	148407036	148407036	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagggccctctgggtgctCcggtctgctagttcctcaca	11	15	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148407036C>A	ENST00000515425.1	-	11	2360	c.2259G>T	c.(2257-2259)cgG>cgT	p.R753R	SH3TC2_ENST00000538184.1_Silent_p.R300R|SH3TC2_ENST00000512049.1_Silent_p.R746R|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Silent_p.R638R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	753					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTGCTCCGGTCTGCTA	0.602																																					p.R753R		.											.	SH3TC2-92	0			c.G2259T						.						49	55	53					5																	148407036		2203	4300	6503	SO:0001819	synonymous_variant	79628	exon11			GGTGCTCCGGTCT	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2259G>T	5.37:g.148407036C>A		Somatic	237	0		WXS	Illumina GAIIx	Phase_I	217	43	NM_024577	0	0	0	0	0	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																			.		0.602	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148407036	C	A	148407036	2	1	31	1	0	0	0	0	0	0	0	1	14307	842	30	3		3	SH3TC2	5	148407036	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	326	148407036	32508224	871	6423											
PCYOX1L	78991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	148745675	148745675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtttctgctgtcctgcGggccagctatggccagtcag	13	12	2	0	rs551655169		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148745675G>T	ENST00000274569.4	+	4	703	c.641G>T	c.(640-642)cGg>cTg	p.R214L	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R124L	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	214					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCCTGCGGGCCAGCTAT	0.597																																					p.R214L	Ovarian(62;1136 1477 27277 27495)	.											.	PCYOX1L-91	0			c.G641T						.						43	41	42					5																	148745675		2203	4300	6503	SO:0001583	missense	78991	exon4			TCCTGCGGGCCAG		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.641G>T	5.37:g.148745675G>T	ENSP00000274569:p.Arg214Leu	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	71	34	NM_024028	0	0	0	0	0	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292132	0.95546	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.16457	2.34;2.34	5.18	5.18	0.71444	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.74881	2.28	0.80722	D	1	D;D	0.58620	0.983;0.961	P;P	0.60068	0.868;0.815	T	0.20438	-1.0275	10	0.51188	T	0.08	-30.0131	19.0548	0.93059	0.0:0.0:1.0:0.0	.	124;214	E7EVZ5;Q8NBM8	.;PCYXL_HUMAN	L	214;124	ENSP00000274569:R214L;ENSP00000428512:R124L	ENSP00000274569:R214L	R	+	2	0	PCYOX1L	148725868	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.779000	0.99018	2.593000	0.87608	0.561000	0.74099	CGG	.		0.597	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		T	148745675	G	T	148745675	3	4	31	1	0	0	0	0	1	0	0	0	11648	1116	39	2	655	2	PCYOX1L	5	148745675	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	338639	148745675	32169585	872	6424											
ARHGEF37	389337	bcgsc.ca	37	chr5	149011699	149011699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggggttatgtgccttctgGcttcttggccagggctcgga	16	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:149011699G>T	ENST00000333677.6	+	13	2136	c.1973G>T	c.(1972-1974)gGc>gTc	p.G658V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	658	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTGCCTTCTGGCTTCTTGGCC	0.597																																					p.G658V		.											.	ARHGEF37-90	0			c.G1973T						.						90	93	92					5																	149011699		1924	4125	6049	SO:0001583	missense	389337	exon13			CTTCTGGCTTCTT	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1973G>T	5.37:g.149011699G>T	ENSP00000328083:p.Gly658Val	Somatic	217	4		WXS	Illumina GAIIx	Phase_I	267	77	NM_001001669	0	0	0	0	0	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492211	0.44352	.	.	ENSG00000183111	ENST00000333677	T	0.68025	-0.3	5.44	2.23	0.28157	Src homology-3 domain (3);	0.309371	0.43416	D	0.000573	T	0.45935	0.1367	N	0.16307	0.4	0.43550	D	0.995853	B	0.29341	0.242	B	0.26969	0.075	T	0.49615	-0.8921	10	0.72032	D	0.01	.	8.2401	0.31654	0.1716:0.1355:0.6929:0.0	.	658	A1IGU5	ARH37_HUMAN	V	658	ENSP00000328083:G658V	ENSP00000328083:G658V	G	+	2	0	ARHGEF37	148991892	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	2.858000	0.48356	1.259000	0.44117	0.655000	0.94253	GGC	.		0.597	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		T	149011699	G	T	149011699	3	4	31	1	0	0	0	0	1	0	0	0	906	1203	42	3	2019	3	ARHGEF37	5	149011699	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	266024	149011699	31903561	873	6425											
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149505087	149505087	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtagatgtactcatgGccgtcagagctcacagactc	9	13	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:149505087G>C	ENST00000261799.4	-	12	2197	c.1728C>G	c.(1726-1728)ggC>ggG	p.G576G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	576					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)	TGTACTCATGGCCGTCAGAGC	0.577			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																p.G576G		.		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	.	PDGFRB-1499	0			c.C1728G						.						142	121	128					5																	149505087		2203	4300	6503	SO:0001819	synonymous_variant	5159	exon12			CTCATGGCCGTCA	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.1728C>G	5.37:g.149505087G>C		Somatic	245	0		WXS	Illumina GAIIx	Phase_I	339	92	NM_002609	0	0	0	0	0	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																			.		0.577	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		C	149505087	G	C	149505087	2	2	31	1	0	0	0	0	0	0	0	1	11701	1190	42	3		3	PDGFRB	5	149505087	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	493388	149505087	31410173	874	6426											
CCDC69	26112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	150565009	150565009	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgaggatcagccgccTgtccagctcatgaatacgct	9	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150565009T>A	ENST00000355417.2	-	7	763	c.589A>T	c.(589-591)Agg>Tgg	p.R197W	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	197			R -> K (in dbSNP:rs248427). {ECO:0000269|PubMed:14702039}.							haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGCCGCCTGTCCAGCTCA	0.542																																					p.R197W		.											.	CCDC69-92	0			c.A589T						.						148	135	140					5																	150565009		2203	4300	6503	SO:0001583	missense	26112	exon7			GCCGCCTGTCCAG		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.589A>T	5.37:g.150565009T>A	ENSP00000347586:p.Arg197Trp	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	139	60	NM_015621	0	0	0	0	0	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021560	0.75275	.	.	ENSG00000198624	ENST00000355417	T	0.09817	2.94	4.92	3.71	0.42584	.	0.199205	0.33253	N	0.005120	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	1	P	0.42908	0.793	P	0.46479	0.518	T	0.11717	-1.0576	10	0.72032	D	0.01	-35.1907	10.789	0.46422	0.0:0.0:0.2103:0.7897	.	197	A6NI79	CCD69_HUMAN	W	197	ENSP00000347586:R197W	ENSP00000347586:R197W	R	-	1	2	CCDC69	150545202	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.970000	0.49240	1.972000	0.57404	0.379000	0.24179	AGG	.		0.542	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		A	150565009	T	A	150565009	3	1	31	1	0	0	0	0	1	0	0	0	2848	1579	55	5	313	5	CCDC69	5	150565009	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1059922	150565009	30350251	875	6427											
SLC36A2	153201	bcgsc.ca|ucsc.edu;bcgsc.ca	37	chr5	150696572	150696573	+	Missense_Mutation	DNP	GG	GG	CT													caggagcggtgggatgatgaGggccagggcggtgccactca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150696572_150696573GG>CT	ENST00000335244.4	-	10	1386_1387	c.1257_1258CC>AG	c.(1255-1260)gcCCtc>gcAGtc	p.L420V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.L144V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	420					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGGATGATGAGGGCCAGGGCGG	0.639																																					p.L420V|p.A419A		.											.	SLC36A2-91	0			c.C1258G|c.C1257A						.																																			SO:0001583	missense	153201	exon10			TGATGAGGGCCAG|GATGAGGGCCAGG	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1257_1258delinsCT	5.37:g.150696572_150696573delinsCT	ENSP00000334223:p.Leu420Val	Somatic	116	2		WXS	Illumina GAIIx	Phase_I	175|173	52|48	NM_181776	0	0	0	0	0	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation|Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																			.		0.639	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			CT	150696573	GG	CT	150696572	3	2	31	1	0	0	0	0	1	0	0	0	14639	1000	35	3	197	3	SLC36A2	5	150696572	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	131563	150696572	30218688	876	6428											
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	150925322	150925322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctttgtcactgtcagagGcatgaatcacaaaggggttg	11	8	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150925322G>T	ENST00000261800.5	-	9	5378	c.5366C>A	c.(5365-5367)gCc>gAc	p.A1789D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1789	Cadherin 16. {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)			ACTGTCAGAGGCATGAATCAC	0.408																																					p.A1789D		.											.	FAT2-96	0			c.C5366A						.						109	108	108					5																	150925322		2203	4300	6503	SO:0001583	missense	2196	exon9			TCAGAGGCATGAA	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.5366C>A	5.37:g.150925322G>T	ENSP00000261800:p.Ala1789Asp	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	86	43	NM_001447	0	0	0	0	0	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968416	0.74131	.	.	ENSG00000086570	ENST00000261800	T	0.61980	0.06	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000023	D	0.87997	0.6319	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92796	0.6252	10	0.87932	D	0	.	18.8457	0.92205	0.0:0.0:1.0:0.0	.	1789	Q9NYQ8	FAT2_HUMAN	D	1789	ENSP00000261800:A1789D	ENSP00000261800:A1789D	A	-	2	0	FAT2	150905515	1.000000	0.71417	0.178000	0.23040	0.961000	0.63080	9.787000	0.99055	2.446000	0.82766	0.467000	0.42956	GCC	.		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150925322	G	T	150925322	3	4	31	1	0	0	0	0	1	0	0	0	5712	1203	42	3	7743	3	FAT2	5	150925322	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	228750	150925322	29989938	877	6429											
KIF4B	285643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	154396953	154396953	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtgacatggagcaggtGctgtcaaagaagactgctcc	13	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:154396953G>T	ENST00000435029.4	+	1	3694	c.3534G>T	c.(3532-3534)gtG>gtT	p.V1178V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1178	Globular. {ECO:0000250}.|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)			TGGAGCAGGTGCTGTCAAAGA	0.502																																					p.V1178V		.											.	KIF4B-1	0			c.G3534T						.						77	81	80					5																	154396953		2203	4300	6503	SO:0001819	synonymous_variant	285643	exon1			GCAGGTGCTGTCA	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.3534G>T	5.37:g.154396953G>T		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	224	61	NM_001099293	0	0	0	0	0		Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																			.		0.502	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154396953	G	T	154396953	2	4	31	1	0	0	0	0	0	0	0	1	8331	1306	46	3		3	KIF4B	5	154396953	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3471631	154396953	26518307	878	6430											
TIMD4	91937	bcgsc.ca	37	chr5	156378664	156378664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatctggagtggtgttcCggttgtgagatcgggtgtgg	18	5	2	1	rs145234048	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:156378664C>T	ENST00000274532.2	-	3	594	c.538G>A	c.(538-540)Gga>Aga	p.G180R	TIMD4_ENST00000407087.3_Missense_Mutation_p.G180R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	180	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGTTCCGGTTGTGAGA	0.537																																					p.G180R		.											.	TIMD4-92	0			c.G538A						.	C	ARG/GLY,ARG/GLY	11,4395	17.9+/-39.9	0,11,2192	640	534	570		538,538	-0.2	0	5	dbSNP_134	570	0,8600		0,0,4300	yes	missense,missense	TIMD4	NM_001146726.1,NM_138379.2	125,125	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign,benign	180/351,180/379	156378664	11,12995	2203	4300	6503	SO:0001583	missense	91937	exon3			GTGTTCCGGTTGT	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.538G>A	5.37:g.156378664C>T	ENSP00000274532:p.Gly180Arg	Somatic	721	6		WXS	Illumina GAIIx	Phase_I	956	415	NM_138379	0	0	0	0	0	B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	2.470	-0.322057	0.05386	0.002497	0.0	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.17370	2.28;2.28	5.12	-0.218	0.13142	.	1.810520	0.02888	N	0.133768	T	0.06872	0.0175	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31861	-0.9928	10	0.11794	T	0.64	0.4303	8.7723	0.34740	0.0:0.4928:0.0:0.5072	.	180;180	B5MCL9;Q96H15	.;TIMD4_HUMAN	R	180	ENSP00000274532:G180R;ENSP00000385973:G180R	ENSP00000274532:G180R	G	-	1	0	TIMD4	156311242	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.944000	0.01538	0.042000	0.15717	-0.459000	0.05422	GGA	C|0.999;T|0.001		0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		T	156378664	C	T	156378664	3	4	31	1	0	0	0	0	1	0	0	0	15950	661	23	1	626	1	TIMD4	5	156378664	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1981711	156378664	24536596	879	6431											
ADAM19	8728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	156997966	156997966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagttcatgctgcagcttGgggctgccttcctcacttcc	9	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:156997966G>A	ENST00000517905.1	-	2	161	c.117C>T	c.(115-117)ccC>ccT	p.P39P	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.P41P|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Silent_p.P39P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	39					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCAGCTTGGGGCTGCCTT	0.483																																					p.P39P		.											.	ADAM19-294	0			c.C117T						.						104	102	103					5																	156997966		2203	4300	6503	SO:0001819	synonymous_variant	8728	exon2			CAGCTTGGGGCTG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.117C>T	5.37:g.156997966G>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	122	52	NM_033274	0	0	0	0	0	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																				.		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		A	156997966	G	A	156997966	2	1	31	1	0	0	0	0	0	0	0	1	240	1335	47	3		3	ADAM19	5	156997966	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	619302	156997966	23917294	880	6432											
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	158139314	158139314	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcggcacgtacccgtgtggtGatacgctgcttgagttgcgg	15	10	0	2	rs556574598		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:158139314G>T	ENST00000313708.6	-	14	1679	c.1397C>A	c.(1396-1398)tCa>tAa	p.S466*	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Nonsense_Mutation_p.S435*|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	466	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGTGTGGTGATACGCTGCT	0.582			T	HMGA2	lipoma																																p.S466X		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1-92	0			c.C1397A						.						100	77	85					5																	158139314		2203	4300	6503	SO:0001587	stop_gained	1879	exon14			TGTGGTGATACGC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1397C>A	5.37:g.158139314G>T	ENSP00000322898:p.Ser466*	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	236	103	NM_024007	0	0	0	0	0	Q8IW11	Nonsense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	38	7.228873	0.98150	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.828	18.1731	0.89753	0.0:0.0:1.0:0.0	.	.	.	.	X	466;466;435	.	ENSP00000322898:S466X	S	-	2	0	EBF1	158071892	1.000000	0.71417	0.981000	0.43875	0.929000	0.56500	9.804000	0.99143	2.357000	0.79964	0.650000	0.86243	TCA	.		0.582	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		T	158139314	G	T	158139314	4	4	31	1	0	0	0	0	0	1	0	0	4894	1294	45	3	390	3	EBF1	5	158139314	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1141348	158139314	22775946	881	6433											
GABRA1	2554	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	161322775	161322775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattggtttattgccgtgtgCtatgcctttgtgttctcagc	11	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:161322775C>G	ENST00000428797.2	+	10	1315	c.960C>G	c.(958-960)tgC>tgG	p.C320W	GABRA1_ENST00000437025.2_Missense_Mutation_p.C320W|GABRA1_ENST00000420560.1_Missense_Mutation_p.C320W|GABRA1_ENST00000023897.6_Missense_Mutation_p.C320W|GABRA1_ENST00000393943.4_Missense_Mutation_p.C320W|GABRA1_ENST00000444819.1_Missense_Mutation_p.C320W	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	320					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGCCGTGTGCTATGCCTTTG	0.448																																					p.C320W		.											.	GABRA1-93	0			c.C960G						.						301	244	263					5																	161322775		2203	4300	6503	SO:0001583	missense	2554	exon9			CGTGTGCTATGCC		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.960C>G	5.37:g.161322775C>G	ENSP00000393097:p.Cys320Trp	Somatic	237	2		WXS	Illumina GAIIx	Phase_I	272	126	NM_001127644	0	0	0	0	0	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150812	0.57151	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.47	3.37	0.38596	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94469	0.7683	10	0.87932	D	0	.	9.3767	0.38288	0.0:0.7033:0.0:0.2967	.	320	P14867	GBRA1_HUMAN	W	320	ENSP00000023897:C320W;ENSP00000393097:C320W;ENSP00000377517:C320W;ENSP00000415441:C320W;ENSP00000408041:C320W;ENSP00000414232:C320W	ENSP00000023897:C320W	C	+	3	2	GABRA1	161255353	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.700000	0.37815	1.316000	0.45131	0.650000	0.86243	TGC	.		0.448	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		G	161322775	C	G	161322775	3	3	31	1	0	0	0	0	1	0	0	0	6184	805	28	3	990	3	GABRA1	5	161322775	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3183461	161322775	19592485	882	6434											
GABRG2	2566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	161576148	161576148	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaatgaccaccctcagCaccattgcccggaaatcgct	7	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:161576148C>G	ENST00000361925.4	+	8	1177	c.957C>G	c.(955-957)agC>agG	p.S319R	GABRG2_ENST00000393933.4_Missense_Mutation_p.S224R|GABRG2_ENST00000356592.3_Missense_Mutation_p.S319R|GABRG2_ENST00000414552.2_Missense_Mutation_p.S359R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	319					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACCCTCAGCACCATTGCCC	0.473																																					p.S359R		.											.	GABRG2-95	0			c.C1077G						.						220	179	193					5																	161576148		2203	4300	6503	SO:0001583	missense	2566	exon9			CCTCAGCACCATT		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.957C>G	5.37:g.161576148C>G	ENSP00000354651:p.Ser319Arg	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	172	39	NM_198903	0	0	0	0	0	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913251	0.72983	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.73	3.95	0.45737	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.071335	0.85682	D	0.000000	D	0.90546	0.7037	M	0.67625	2.065	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.994	D	0.89772	0.3955	10	0.87932	D	0	.	5.3619	0.16093	0.0:0.6264:0.0:0.3736	.	359;319;319	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	319;359;319;224	ENSP00000349000:S319R;ENSP00000410732:S359R;ENSP00000354651:S319R;ENSP00000377510:S224R	ENSP00000349000:S319R	S	+	3	2	GABRG2	161508726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.934000	0.28910	1.427000	0.47276	0.650000	0.86243	AGC	.		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161576148	C	G	161576148	3	3	31	1	0	0	0	0	1	0	0	0	6196	709	25	3	1111	3	GABRG2	5	161576148	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	253373	161576148	19339112	883	6435											
CCNG1	900	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	162869514	162869514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcgtactgcacggcaattGaagcatagctactacagaat	11	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:162869514G>A	ENST00000340828.2	+	6	1055	c.831G>A	c.(829-831)ttG>ttA	p.L277L	CCNG1_ENST00000393929.1_Silent_p.L277L|CCNG1_ENST00000504553.1_Intron|CCNG1_ENST00000512163.1_Silent_p.L143L|CCNG1_ENST00000511683.2_Silent_p.L143L|CCNG1_ENST00000510664.1_Silent_p.L149L|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	277				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903). {ECO:0000305}.	brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		CACGGCAATTGAAGCATAGCT	0.363																																					p.L277L		.											.	CCNG1-725	0			c.G831A						.						141	139	140					5																	162869514		2203	4300	6503	SO:0001819	synonymous_variant	900	exon7			GCAATTGAAGCAT	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.831G>A	5.37:g.162869514G>A		Somatic	211	1		WXS	Illumina GAIIx	Phase_I	205	76	NM_199246	0	0	0	0	0	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Silent	SNP	ENST00000340828.2	37	CCDS4360.1																																																																																			.		0.363	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		A	162869514	G	A	162869514	2	1	31	1	0	0	0	0	0	0	0	1	2930	1281	45	3		3	CCNG1	5	162869514	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1293366	162869514	18045746	884	6436											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	167645293	167645293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcattgactactcactcaGcaaactagccattcactctg	6	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:167645293G>T	ENST00000518659.1	+	23	4436	c.4397G>T	c.(4396-4398)aGc>aTc	p.S1466I	TENM2_ENST00000545108.1_Missense_Mutation_p.S1465I|TENM2_ENST00000519204.1_Missense_Mutation_p.S1345I|TENM2_ENST00000403607.2_Missense_Mutation_p.S1290I|TENM2_ENST00000520394.1_Missense_Mutation_p.S1227I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1466					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)										TACTCACTCAGCAAACTAGCC	0.507																																					p.S1457I		.											.	.	0			c.G4370T						.						171	181	178					5																	167645293		2194	4284	6478	SO:0001583	missense	57451	exon23			CACTCAGCAAACT	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.4397G>T	5.37:g.167645293G>T	ENSP00000429430:p.Ser1466Ile	Somatic	252	0		WXS	Illumina GAIIx	Phase_I	306	101	NM_001122679	0	0	0	0	0	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.181138	0.78677	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.19;-2.18;-2.29;-2.65;-2.66	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.073538	0.85682	D	0.000000	D	0.94994	0.8380	M	0.66939	2.045	0.80722	D	1	D;P;D	0.71674	0.981;0.93;0.998	P;P;D	0.76575	0.876;0.67;0.988	D	0.94885	0.8042	10	0.72032	D	0.01	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	1465;1466;1227	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1466;1465;1345;1227;1290	ENSP00000429430:S1466I;ENSP00000438635:S1465I;ENSP00000428964:S1345I;ENSP00000427874:S1227I;ENSP00000384905:S1290I	ENSP00000384905:S1290I	S	+	2	0	ODZ2	167577871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	AGC	.		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167645293	G	T	167645293	3	4	31	1	0	0	0	0	1	0	0	0	10874	971	34	3	4460	3	ODZ2	5	167645293	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4775779	167645293	13269967	885	6437											
DOCK2	1794	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	169141144	169141144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctccagcagtgttggggGgctttctgtcagctcccggg	16	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169141144G>T	ENST00000256935.8	+	18	1852	c.1772G>T	c.(1771-1773)gGg>gTg	p.G591V	DOCK2_ENST00000520908.1_Missense_Mutation_p.G83V|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	591	DHR-1.				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)			AGTGTTGGGGGGCTTTCTGTC	0.542																																					p.G591V		.											.	DOCK2-97	0			c.G1772T						.						61	58	59					5																	169141144		2203	4300	6503	SO:0001583	missense	1794	exon18			TTGGGGGGCTTTC	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.1772G>T	5.37:g.169141144G>T	ENSP00000256935:p.Gly591Val	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	187	102	NM_004946	0	0	0	0	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609107	0.66558	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.14022	2.54;3.25	5.9	5.9	0.94986	.	0.094278	0.64402	D	0.000001	T	0.38268	0.1034	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.976;0.981	T	0.00896	-1.1523	10	0.46703	T	0.11	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	83;591;591	E7ERW7;E5RFJ0;Q92608	.;.;DOCK2_HUMAN	V	591;109;83	ENSP00000256935:G591V;ENSP00000429283:G83V	ENSP00000256935:G591V	G	+	2	0	DOCK2	169073722	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.665000	0.83852	2.797000	0.96272	0.655000	0.94253	GGG	.		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169141144	G	T	169141144	3	4	31	1	0	0	0	0	1	0	0	0	4701	1232	43	3	1842	3	DOCK2	5	169141144	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1495851	169141144	11774116	886	6438											
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	169461501	169461501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgctggattaccGgggtgtgatgacagatgaga	17	5	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169461501G>T	ENST00000256935.8	+	35	3646	c.3566G>T	c.(3565-3567)cGg>cTg	p.R1189L	DOCK2_ENST00000520908.1_Missense_Mutation_p.R681L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R250L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1189	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1189Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGATTACCGGGGTGTGATG	0.577																																					p.R1189L		.											.	DOCK2-97	1	Substitution - Missense(1)	endometrium(1)	c.G3566T						.						104	101	102					5																	169461501		2203	4300	6503	SO:0001583	missense	1794	exon35			ATTACCGGGGTGT	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.3566G>T	5.37:g.169461501G>T	ENSP00000256935:p.Arg1189Leu	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	169	87	NM_004946	0	0	0	0	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948165	0.97134	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.58060	0.36;0.36;0.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.93016	3.37	0.58432	D	0.999994	P;P	0.49090	0.919;0.713	B;B	0.41440	0.357;0.274	T	0.77965	-0.2389	10	0.72032	D	0.01	.	19.2876	0.94085	0.0:0.0:1.0:0.0	.	681;1189	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1189;681;250	ENSP00000256935:R1189L;ENSP00000429283:R681L;ENSP00000438827:R250L	ENSP00000256935:R1189L	R	+	2	0	DOCK2	169394079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.508000	0.98000	2.656000	0.90262	0.655000	0.94253	CGG	.		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169461501	G	T	169461501	3	4	31	1	0	0	0	0	1	0	0	0	4701	1116	39	2	3704	2	DOCK2	5	169461501	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	320357	169461501	11453759	887	6439											
FOXI1	2299	broad.mit.edu;bcgsc.ca	37	chr5	169533089	169533089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccacagggcgtgcccaGccctcagcggccctccttcg	10	21	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169533089G>T	ENST00000306268.6	+	1	189	c.128G>T	c.(127-129)aGc>aTc	p.S43I	FOXI1_ENST00000449804.2_Missense_Mutation_p.S43I			Q12951	FOXI1_HUMAN	forkhead box I1	43	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGTGCCCAGCCCTCAGCGG	0.677									Pendred syndrome																												p.S43I		.											.	FOXI1-229	0			c.G128T						.						22	24	23					5																	169533089		2203	4299	6502	SO:0001583	missense	2299	exon1	Familial Cancer Database	Goiter-Deafness syndrome	TGCCCAGCCCTCA	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.128G>T	5.37:g.169533089G>T	ENSP00000304286:p.Ser43Ile	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	345	102	NM_012188	0	0	0	0	0	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497836	0.64186	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94897	-3.46;-3.55	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.75264	2.295	0.54753	D	0.999987	P;P	0.52061	0.903;0.95	P;P	0.46320	0.488;0.512	D	0.95349	0.8445	10	0.59425	D	0.04	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	43;43	Q12951-2;Q12951	.;FOXI1_HUMAN	I	43	ENSP00000304286:S43I;ENSP00000415483:S43I	ENSP00000304286:S43I	S	+	2	0	FOXI1	169465667	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.086000	0.71352	2.056000	0.61249	0.491000	0.48974	AGC	.		0.677	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		T	169533089	G	T	169533089	3	4	31	1	0	0	0	0	1	0	0	0	6033	971	34	3	130	3	FOXI1	5	169533089	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	71588	169533089	11382171	888	6440											
KCNMB1	3779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	169810783	169810783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtactggggcaccttcTtgcccttcagctcctcctgg	11	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169810783T>C	ENST00000274629.4	-	3	648	c.206A>G	c.(205-207)aAg>aGg	p.K69R	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.K69R	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	69					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)	GGGCACCTTCTTGCCCTTCAG	0.597																																					p.L69R		.											.	KCNMB1-92	0			c.T206G						.						137	106	116					5																	169810783		2203	4300	6503	SO:0001583	missense	3779	exon3			ACCTTCTTGCCCT	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.206A>G	5.37:g.169810783T>C	ENSP00000274629:p.Lys69Arg	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	182	56	NM_004137	0	0	0	0	0	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521180	0.44866	.	.	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.09163	3.01;3.01	5.7	-2.44	0.06502	.	0.534827	0.23608	N	0.046377	T	0.03305	0.0096	N	0.02539	-0.55	0.25390	N	0.988536	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.007	T	0.44097	-0.9350	9	.	.	.	.	10.7106	0.45982	0.0:0.5372:0.0:0.4628	.	69;69	Q16558-2;Q16558	.;KCMB1_HUMAN	R	69	ENSP00000274629:K69R;ENSP00000427940:K69R	.	K	-	2	0	KCNMB1	169743361	0.988000	0.35896	0.985000	0.45067	0.982000	0.71751	0.311000	0.19380	-0.415000	0.07484	0.533000	0.62120	AAG	.		0.597	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			C	169810783	T	C	169810783	3	2	31	1	0	0	0	0	1	0	0	0	8101	1609	56	4	377	4	KCNMB1	5	169810783	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	277694	169810783	11104477	889	6441											
TLX3	30012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	170736778	170736778	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagccgccgcttcgtgaaaGaccgcttcacaggtgagcag	13	13	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:170736778G>A	ENST00000296921.5	+	1	491	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	137					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCGTGAAAGACCGCTTCAC	0.682			T	BCL11B	T-ALL																																p.D137N	Esophageal Squamous(33;43 807 3116 3348 30094)	.		Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	.	TLX3-658	0			c.G409A						.						15	18	17					5																	170736778		2183	4269	6452	SO:0001583	missense	30012	exon1			GTGAAAGACCGCT	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.409G>A	5.37:g.170736778G>A	ENSP00000296921:p.Asp137Asn	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	121	44	NM_021025	0	0	0	0	0	Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482499	0.63962	.	.	ENSG00000164438	ENST00000296921	D	0.91792	-2.91	4.31	4.31	0.51392	.	0.051376	0.85682	D	0.000000	D	0.91988	0.7462	M	0.70595	2.14	0.43574	D	0.995908	B	0.33512	0.415	B	0.39935	0.314	D	0.90804	0.4696	10	0.30854	T	0.27	.	15.7306	0.77800	0.0:0.0:1.0:0.0	.	137	O43711	TLX3_HUMAN	N	137	ENSP00000296921:D137N	ENSP00000296921:D137N	D	+	1	0	TLX3	170669383	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.325000	0.96381	2.246000	0.74042	0.555000	0.69702	GAC	.		0.682	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			A	170736778	G	A	170736778	3	1	31	1	0	0	0	0	1	0	0	0	16009	942	33	3	411	3	TLX3	5	170736778	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	925995	170736778	10178482	890	6442											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	31	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5055827	175792605	5122655	891	6443											
EIF4E1B	253314	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176070253	176070253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcaagctggagctgcaCcccttgcagaacaggtaggc	13	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:176070253C>A	ENST00000318682.6	+	4	770	c.186C>A	c.(184-186)caC>caA	p.H62Q	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.H62Q	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	62	EIF4EBP1/2/3 binding. {ECO:0000250}.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGCTGCACCCcttgcaga	0.632																																					p.H62Q		.											.	.	0			c.C186A						.						35	46	42					5																	176070253		1979	4138	6117	SO:0001583	missense	253314	exon4			GCTGCACCCCTTG		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.186C>A	5.37:g.176070253C>A	ENSP00000323714:p.His62Gln	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	210	92	NM_001099408	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318682.6	37	CCDS47345.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.71|12.71	2.018379|2.018379	0.35606|0.35606	.|.	.|.	ENSG00000175766|ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597|ENST00000505497	T;T;T|.	0.53857|.	0.6;0.6;0.6|.	4.79|4.79	2.02|2.02	0.26589|0.26589	Translation Initiation factor eIF- 4e-like  domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.38134|0.38134	0.1029|0.1029	N|N	0.24115|0.24115	0.695|0.695	0.47153|0.47153	D|D	0.999331|0.999331	D|.	0.76494|.	0.999|.	D|.	0.73380|.	0.98|.	T|T	0.07366|0.07366	-1.0776|-1.0776	9|5	0.87932|.	D|.	0|.	.|.	6.0763|6.0763	0.19917|0.19917	0.0:0.6864:0.0:0.3136|0.0:0.6864:0.0:0.3136	.|.	62|.	A6NMX2|.	I4E1B_HUMAN|.	Q|N	62|3	ENSP00000323714:H62Q;ENSP00000421009:H62Q;ENSP00000427633:H62Q|.	ENSP00000323714:H62Q|.	H|T	+|+	3|2	2|0	EIF4E1B|EIF4E1B	176002859|176002859	0.895000|0.895000	0.30542|0.30542	0.949000|0.949000	0.38748|0.38748	0.183000|0.183000	0.23260|0.23260	0.213000|0.213000	0.17521|0.17521	0.709000|0.709000	0.31976|0.31976	0.561000|0.561000	0.74099|0.74099	CAC|ACC	.		0.632	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		A	176070253	C	A	176070253	3	1	31	1	0	0	0	0	1	0	0	0	5045	506	18	3	192	3	EIF4E1B	5	176070253	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	277648	176070253	4845007	892	6444											
ADAMTS2	9509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178770799	178770799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttgctgagcgccacagagGaggcttcggctaggccggcc	16	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:178770799G>T	ENST00000251582.7	-	2	604	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S168Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	168					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCCACAGAGGAGGCTTCGGC	0.632																																					p.S168Y		.											.	ADAMTS2-228	0			c.C503A						.						13	14	14					5																	178770799		2091	4147	6238	SO:0001583	missense	9509	exon2			ACAGAGGAGGCTT	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.503C>A	5.37:g.178770799G>T	ENSP00000251582:p.Ser168Tyr	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	138	51	NM_021599	0	0	0	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954226	0.92726	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.13307	2.6;2.6	5.21	5.21	0.72293	Peptidase M12B, propeptide (1);	0.000000	0.41712	D	0.000836	T	0.31420	0.0796	L	0.55990	1.75	0.58432	D	0.99999	D;D	0.60160	0.987;0.971	P;P	0.60682	0.878;0.825	T	0.01810	-1.1269	10	0.87932	D	0	.	17.7434	0.88413	0.0:0.0:1.0:0.0	.	168;168	O95450-2;O95450	.;ATS2_HUMAN	Y	168	ENSP00000251582:S168Y;ENSP00000274609:S168Y	ENSP00000251582:S168Y	S	-	2	0	ADAMTS2	178703405	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.553000	0.98118	2.427000	0.82271	0.462000	0.41574	TCC	.		0.632	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178770799	G	T	178770799	3	4	31	1	0	0	0	0	1	0	0	0	265	1174	41	3	3291	3	ADAMTS2	5	178770799	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2700546	178770799	2144461	893	6445											
MAML1	9794	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179195985	179195985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacaggccgctgtaatgaaGcagcatcagttgcttttgga	11	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:179195985G>T	ENST00000292599.3	+	3	2129	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTAATGAAGCAGCATCAGT	0.567																																					p.K622N		.											.	MAML1-848	0			c.G1866T						.						107	108	108					5																	179195985		2203	4300	6503	SO:0001583	missense	9794	exon3			AATGAAGCAGCAT	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1866G>T	5.37:g.179195985G>T	ENSP00000292599:p.Lys622Asn	Somatic	157	1		WXS	Illumina GAIIx	Phase_I	187	67	NM_014757	0	0	0	0	0		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805455	0.70682	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.52983	0.64	4.72	4.72	0.59763	.	0.158244	0.42964	D	0.000639	T	0.61160	0.2325	M	0.65975	2.015	0.58432	D	0.999996	D;P	0.65815	0.995;0.932	D;B	0.63877	0.919;0.375	T	0.60110	-0.7327	10	0.36615	T	0.2	-23.0626	10.9208	0.47163	0.088:0.0:0.912:0.0	.	659;622	Q59GH4;Q92585	.;MAML1_HUMAN	N	622;659	ENSP00000292599:K622N	ENSP00000292599:K622N	K	+	3	2	MAML1	179128591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.873000	0.48475	2.165000	0.68154	0.561000	0.74099	AAG	.		0.567	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		T	179195985	G	T	179195985	3	4	31	1	0	0	0	0	1	0	0	0	9243	962	34	3	1876	3	MAML1	5	179195985	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	425186	179195985	1719275	894	6446											
BTNL9	153579	hgsc.bcm.edu	37	chr5	180486429	180486429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggtgcacgtgggccGccgcagccgctggttcctgg	18	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:180486429G>T	ENST00000327705.9	+	11	1406	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L	BTNL9_ENST00000376842.3_Missense_Mutation_p.R393L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACGTGGGCCGCCGCAGCCGC	0.781																																					p.R392L		.											.	BTNL9-91	0			c.G1175T						.						1	1	1					5																	180486429		680	1568	2248	SO:0001583	missense	153579	exon11			TGGGCCGCCGCAG	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.1175G>T	5.37:g.180486429G>T	ENSP00000330200:p.Arg392Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	13	NM_152547	0	0	0	0	0	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	12.59	1.985074	0.35036	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.61742	0.08;0.08	4.71	1.27	0.21489	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.49932	0.1586	L	0.42744	1.35	0.09310	N	1	B	0.21071	0.051	B	0.37780	0.258	T	0.50145	-0.8862	9	0.34782	T	0.22	.	3.2623	0.06853	0.3376:0.2067:0.4557:0.0	.	392	Q6UXG8	BTNL9_HUMAN	L	392;393	ENSP00000330200:R392L;ENSP00000366038:R393L	ENSP00000330200:R392L	R	+	2	0	BTNL9	180419035	0.000000	0.05858	0.068000	0.19968	0.370000	0.29829	1.362000	0.34148	0.509000	0.28195	0.298000	0.19748	CGC	.		0.781	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180486429	G	T	180486429	3	4	31	1	0	0	0	0	1	0	0	0	1572	1087	38	2	1213	2	BTNL9	5	180486429	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1290444	180486429	428831	895	6447											
IRF4	3662	ucsc.edu;bcgsc.ca	37	chr6	401669	401669	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgcgaaaagactgtgcCagagcaggatctactgggac	12	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:401669C>T	ENST00000380956.4	+	7	1117	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	331					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGACTGTGCCAGAGCAGGAT	0.592			T	IGH@	MM																																p.Q331X		.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4-659	0			c.C991T						.						52	55	54					6																	401669		2203	4300	6503	SO:0001587	stop_gained	3662	exon7			CTGTGCCAGAGCA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.991C>T	6.37:g.401669C>T	ENSP00000370343:p.Gln331*	Somatic	219	3		WXS	Illumina GAIIx	Phase_I	247	92	NM_002460	0	0	0	0	0	Q5VUI7|Q99660	Nonsense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	37	6.330314	0.97480	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	.	.	.	5.67	5.67	0.87782	.	0.051589	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-27.7219	19.7657	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	331;360	.	ENSP00000370343:Q331X	Q	+	1	0	IRF4	346669	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.440000	0.80464	2.649000	0.89929	0.655000	0.94253	CAG	.		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			T	401669	C	T	401669	4	4	31	1	0	0	0	0	0	1	0	0	7859	595	21	3	1013	3	IRF4	6	401669	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		401669	170713398	896	6448											
BPHL	670	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	3140673	3140673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccgccttgattgtgCacggtgagaaggatcctctg	13	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:3140673C>A	ENST00000380379.5	+	6	767	c.718C>A	c.(718-720)Cac>Aac	p.H240N	RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380375.3_Missense_Mutation_p.H223N|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Missense_Mutation_p.H223N	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	240					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)				CTTGATTGTGCACGGTGAGAA	0.562																																					p.H240N		.											.	BPHL-90	0			c.C718A						.						186	170	176					6																	3140673		2203	4300	6503	SO:0001583	missense	670	exon6			ATTGTGCACGGTG	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.718C>A	6.37:g.3140673C>A	ENSP00000369739:p.His240Asn	Somatic	217	1		WXS	Illumina GAIIx	Phase_I	226	102	NM_004332	0	0	0	0	0	Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	CCDS4483.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.339182|4.339182	0.81911|0.81911	.|.	.|.	ENSG00000137274|ENSG00000137274	ENST00000423798|ENST00000434640;ENST00000380375;ENST00000380379	.|T;T;T	.|0.78924	.|-1.22;-1.22;-1.22	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86843	.|0.6030	M|M	0.87097|0.87097	2.86|2.86	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	.|0.85013	.|0.0907	.|10	.|0.27082	.|T	.|0.32	-2.6145|-2.6145	16.4483|16.4483	0.83959|0.83959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;223	.|Q86WA6;Q86WA6-2	.|BPHL_HUMAN;.	X|N	5|223;223;240	.|ENSP00000390472:H223N;ENSP00000369734:H223N;ENSP00000369739:H240N	.|ENSP00000369734:H223N	C|H	+|+	3|1	2|0	BPHL|BPHL	3085672|3085672	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.904000|0.904000	0.53231|0.53231	5.082000|5.082000	0.64450|0.64450	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	TGC|CAC	.		0.562	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			A	3140673	C	A	3140673	3	1	31	1	0	0	0	0	1	0	0	0	1493	710	25	3	740	3	BPHL	6	3140673	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2739004	3140673	167974394	897	6449											
CDYL	9425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	4954182	4954182	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacatgaagatggagctGgagcaggccaacgagaggga	16	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:4954182G>T	ENST00000328908.5	+	9	1820	c.1689G>T	c.(1687-1689)ctG>ctT	p.L563L	CDYL_ENST00000397588.3_Silent_p.L509L|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Silent_p.L377L|CDYL_ENST00000343762.5_Silent_p.L377L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	563					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGATGGAGCTGGAGCAGGCCA	0.562																																					p.L509L		.											.	CDYL-90	0			c.G1527T						.						81	71	75					6																	4954182		2203	4300	6503	SO:0001819	synonymous_variant	9425	exon7			GGAGCTGGAGCAG	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1689G>T	6.37:g.4954182G>T		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	150	45	NM_004824	0	0	0	0	0	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																				.		0.562	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		T	4954182	G	T	4954182	2	4	31	1	0	0	0	0	0	0	0	1	3192	1335	47	3		3	CDYL	6	4954182	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1813509	4954182	166160885	898	6450											
DSP	1832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	7579564	7579564	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagactggcccgagatgcCaactcggaaaactgtaataa	9	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:7579564C>A	ENST00000379802.3	+	23	3482	c.3141C>A	c.(3139-3141)gcC>gcA	p.A1047A	DSP_ENST00000418664.2_Silent_p.A1047A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1047	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCCGAGATGCCAACTCGGAAA	0.448																																					p.A1047A		.											.	DSP-518	0			c.C3141A						.						39	43	42					6																	7579564		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon23			AGATGCCAACTCG	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3141C>A	6.37:g.7579564C>A		Somatic	112	1		WXS	Illumina GAIIx	Phase_I	104	34	NM_004415	0	0	0	0	0	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			.		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7579564	C	A	7579564	2	1	31	1	0	0	0	0	0	0	0	1	4795	581	21	3		3	DSP	6	7579564	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2625382	7579564	163535503	899	6451											
ATXN1	6310	hgsc.bcm.edu;broad.mit.edu	37	chr6	16328522	16328522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaggcattcgttgctcCgctcttggttggatttcatt	12	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:16328522C>A	ENST00000244769.4	-	8	956	c.20G>T	c.(19-21)cGg>cTg	p.R7L	ATXN1_ENST00000436367.1_Missense_Mutation_p.R7L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	7					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCGTTGCTCCGCTCTTGGTT	0.577																																					p.R7L		.											.	ATXN1-93	0			c.G20T						.						37	37	37					6																	16328522		2200	4291	6491	SO:0001583	missense	6310	exon7			TTGCTCCGCTCTT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.20G>T	6.37:g.16328522C>A	ENSP00000244769:p.Arg7Leu	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	24	5	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201608	0.94997	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.48522	0.81;0.81	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68918	-0.5282	10	0.87932	D	0	-32.2884	18.7977	0.92001	0.0:1.0:0.0:0.0	.	7	P54253	ATX1_HUMAN	L	7	ENSP00000244769:R7L;ENSP00000416360:R7L	ENSP00000244769:R7L	R	-	2	0	ATXN1	16436501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	CGG	.		0.577	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16328522	C	A	16328522	3	1	31	1	0	0	0	0	1	0	0	0	1210	652	23	2	2435	2	ATXN1	6	16328522	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8748958	16328522	154786545	900	6452											
NHLRC1	378884	hgsc.bcm.edu	37	chr6	18122526	18122526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctgggggcggcgcgAtgggcggccggggactggcg	26	10	0	0	rs115931931	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					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)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089				p.H104H		.											.	NHLRC1-90	0			c.T312C						.	G		697,3599		63,571,1514	7	9	9		312	-4.7	0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	SO:0001819	synonymous_variant	378884	exon1			GGCGCGATGGGCG	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.312T>C	6.37:g.18122526A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_198586	0	0	0	0	0	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																			A|0.885;G|0.115		0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			G	18122526	A	G	18122526	2	3	31	1	0	0	0	0	0	0	0	1	10444	330	12	4		4	NHLRC1	6	18122526	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1794004	18122526	152992541	901	6453											
CDKAL1	54901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	21000542	21000542	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctccgacagcgtactcatgGaaatgaaaagagaatactgt	9	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:21000542G>T	ENST00000378610.1	+	9	1004	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	CDKAL1_ENST00000274695.4_Nonsense_Mutation_p.E332*|CDKAL1_ENST00000378624.4_Nonsense_Mutation_p.E262*			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	332					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGTACTCATGGAAATGAAAAG	0.383																																					p.E332X		.											.	CDKAL1-92	0			c.G994T						.						107	109	108					6																	21000542		2203	4300	6503	SO:0001587	stop_gained	54901	exon11			CTCATGGAAATGA	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.994G>T	6.37:g.21000542G>T	ENSP00000367873:p.Glu332*	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	61	17	NM_017774	0	0	0	0	0	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Nonsense_Mutation	SNP	ENST00000378610.1	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283224	0.98186	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	.	.	.	5.33	4.45	0.53987	.	0.438869	0.27406	N	0.019512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	15.2855	0.73826	0.0:0.0:0.8586:0.1414	.	.	.	.	X	332;262;332	.	ENSP00000274695:E332X	E	+	1	0	CDKAL1	21108521	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.476000	0.97823	1.220000	0.43490	0.563000	0.77884	GAA	.		0.383	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		T	21000542	G	T	21000542	4	4	31	1	0	0	0	0	0	1	0	0	3159	1175	41	3	1028	3	CDKAL1	6	21000542	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2878016	21000542	150114525	902	6454											
GPLD1	2822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	24473883	24473883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagcctctgaataggagcCgtgaaaatcaatctaagaaa	9	7	3	4	rs139020496		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:24473883C>A	ENST00000230036.1	-	6	564	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	152					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						GAATAGGAGCCGTGAAAATCA	0.393																																					p.G152C		.											.	GPLD1-228	0			c.G454T						.						50	49	49					6																	24473883		2203	4300	6503	SO:0001583	missense	2822	exon6			AGGAGCCGTGAAA	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.454G>T	6.37:g.24473883C>A	ENSP00000230036:p.Gly152Cys	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	88	49	NM_001503	0	0	0	0	0	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297111	0.40694	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.46063	0.88	5.04	0.974	0.19715	.	0.646750	0.15255	N	0.272135	T	0.44767	0.1309	M	0.72118	2.19	0.25761	N	0.984944	D;D	0.89917	1.0;1.0	D;D	0.76071	0.969;0.987	T	0.34625	-0.9821	10	0.87932	D	0	-0.6172	9.0555	0.36403	0.0:0.6657:0.0:0.3343	.	152;152	P80108-2;P80108	.;PHLD_HUMAN	C	152	ENSP00000230036:G152C	ENSP00000230036:G152C	G	-	1	0	GPLD1	24581862	0.355000	0.24921	0.016000	0.15963	0.714000	0.41099	0.981000	0.29526	-0.140000	0.11394	0.557000	0.71058	GGC	C|1.000;T|0.000		0.393	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24473883	C	A	24473883	3	1	31	1	0	0	0	0	1	0	0	0	6640	652	23	2	2189	2	GPLD1	6	24473883	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3473341	24473883	146641184	903	6455											
SLC17A2	10246	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	25918769	25918769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagattagtccccccaCacagaggatgatgaaggatc	11	10	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:25918769C>G	ENST00000265425.3	-	5	615	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	SLC17A2_ENST00000377850.3_Missense_Mutation_p.V199L|SLC17A2_ENST00000360488.3_Missense_Mutation_p.V199L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	199					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGTCCCCCCACACAGAGGATG	0.443																																					p.V199L		.											.	SLC17A2-91	0			c.G595C						.						93	88	90					6																	25918769		2203	4300	6503	SO:0001583	missense	10246	exon6			CCCCCACACAGAG	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.595G>C	6.37:g.25918769C>G	ENSP00000265425:p.Val199Leu	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	173	60	NM_005835	0	0	0	0	0	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563972	0.45694	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.52057	0.68;0.68;0.68	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.259168	0.27513	N	0.019039	T	0.09423	0.0232	N	0.04746	-0.17	0.32718	N	0.510679	B;B;B	0.30824	0.11;0.11;0.296	B;B;B	0.31016	0.123;0.101;0.06	T	0.07868	-1.0750	10	0.02654	T	1	.	12.4083	0.55453	0.0:1.0:0.0:0.0	.	199;199;199	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	L	199	ENSP00000353677:V199L;ENSP00000367081:V199L;ENSP00000265425:V199L	ENSP00000265425:V199L	V	-	1	0	SLC17A2	26026748	0.999000	0.42202	0.998000	0.56505	0.956000	0.61745	2.197000	0.42696	2.637000	0.89404	0.655000	0.94253	GTG	.		0.443	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			G	25918769	C	G	25918769	3	3	31	1	0	0	0	0	1	0	0	0	14462	478	17	3	739	3	SLC17A2	6	25918769	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1444886	25918769	145196298	904	6456											
HIST1H2AC	8334	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	26124666	26124666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggagctggccggcaAcgcggctcgcgacaacaaga	14	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26124666A>T	ENST00000602637.1	+	1	236	c.206A>T	c.(205-207)aAc>aTc	p.N69I	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.N69I|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CTGGCCGGCAACGCGGCTCGC	0.647																																					p.N69I		.											.	HIST1H2AC-90	0			c.A206T						.						79	77	78					6																	26124666		2203	4300	6503	SO:0001583	missense	8334	exon1			CCGGCAACGCGGC	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.206A>T	6.37:g.26124666A>T	ENSP00000473534:p.Asn69Ile	Somatic	324	3		WXS	Illumina GAIIx	Phase_I	410	123	NM_003512	0	0	0	0	0	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.458565	0.84317	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.68624	-0.34;-0.34	5.62	5.62	0.85841	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.48767	D	0.000176	D	0.85080	0.5615	H	0.95187	3.635	0.47476	D	0.999436	D	0.89917	1.0	D	0.97110	1.0	D	0.89608	0.3839	10	0.87932	D	0	.	15.294	0.73888	1.0:0.0:0.0:0.0	.	69	Q93077	H2A1C_HUMAN	I	69	ENSP00000367022:N69I;ENSP00000321389:N69I	ENSP00000321389:N69I	N	+	2	0	HIST1H2AC	26232645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.096000	0.94182	2.267000	0.75376	0.383000	0.25322	AAC	.		0.647	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		T	26124666	A	T	26124666	3	4	31	1	0	0	0	0	1	0	0	0	7157	43	2	5	208	5	HIST1H2AC	6	26124666	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	205897	26124666	144990401	905	6457											
HIST1H2BH	8345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26252078	26252078	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcatgaattcctttgTcaacgatatcttcgagcgca	10	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26252078T>A	ENST00000356350.2	+	1	200	c.200T>A	c.(199-201)gTc>gAc	p.V67D	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	67					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AATTCCTTTGTCAACGATATC	0.567																																					p.V67D		.											.	HIST1H2BH-93	0			c.T200A						.						130	125	127					6																	26252078		2203	4300	6503	SO:0001583	missense	8345	exon1			CCTTTGTCAACGA	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.200T>A	6.37:g.26252078T>A	ENSP00000348706:p.Val67Asp	Somatic	249	1		WXS	Illumina GAIIx	Phase_I	283	116	NM_003524	0	0	0	0	0	B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	17.52	3.409184	0.62399	.	.	ENSG00000197459	ENST00000356350	T	0.32515	1.45	4.65	4.65	0.58169	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.66674	0.2813	H	0.98833	4.345	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.81261	-0.1013	9	0.87932	D	0	.	13.9476	0.64094	0.0:0.0:0.0:1.0	.	67	Q93079	H2B1H_HUMAN	D	67	ENSP00000348706:V67D	ENSP00000348706:V67D	V	+	2	0	HIST1H2BH	26360057	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	6.020000	0.70826	2.032000	0.59987	0.482000	0.46254	GTC	.		0.567	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		A	26252078	T	A	26252078	3	1	31	1	0	0	0	0	1	0	0	0	7174	1667	58	5	202	5	HIST1H2BH	6	26252078	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	127412	26252078	144862989	906	6458											
BTN3A3	10384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	26451901	26451901	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctcaaactctctgcAgcggatgtgattctggatcc	8	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26451901A>T	ENST00000244519.2	+	11	1261		c.e11-1		BTN3A3_ENST00000339789.4_Splice_Site|BTN3A3_ENST00000361232.3_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3						T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AACTCTCTGCAGCGGATGTGA	0.562																																					.		.											.	BTN3A3-90	0			c.1019-2A>T						.						49	54	52					6																	26451901		2203	4300	6503	SO:0001630	splice_region_variant	10384	exon11			CTCTGCAGCGGAT	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1019-1A>T	6.37:g.26451901A>T		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	133	40	NM_006994	0	0	0	0	0	B4DWI7|E9PCP5	Splice_Site	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266370	0.40095	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9082	0.19012	0.7658:0.0:0.0:0.2341	.	.	.	.	.	-1	.	.	.	+	.	.	BTN3A3	26559880	1.000000	0.71417	0.040000	0.18447	0.281000	0.26958	6.332000	0.72934	1.335000	0.45486	0.374000	0.22700	.	.		0.562	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	Intron	T	26451901	A	T	26451901	5	4	31	1	0	0	0	0	0	0	1	0	1568	202	7	5	1051	5	BTN3A3	6	26451901	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	199823	26451901	144663166	907	6459											
HIST1H2BM	8342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27783029	27783029	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaactccttcgtcaacgacAtctttgagcgtatcgccgga	9	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:27783029A>T	ENST00000359465.4	+	1	208	c.208A>T	c.(208-210)Atc>Ttc	p.I70F	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	70					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CGTCAACGACATCTTTGAGCG	0.562																																					p.I70F		.											.	HIST1H2BM-131	0			c.A208T						.						147	135	139					6																	27783029		2203	4300	6503	SO:0001583	missense	8342	exon1			AACGACATCTTTG	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.208A>T	6.37:g.27783029A>T	ENSP00000352442:p.Ile70Phe	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	193	60	NM_003521	0	0	0	0	0	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.162725	0.57368	.	.	ENSG00000196374	ENST00000359465	T	0.66460	-0.21	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.104091	0.37857	U	0.001910	T	0.80798	0.4692	H	0.96489	3.83	0.51233	D	0.999917	D	0.53312	0.959	P	0.62649	0.905	D	0.84588	0.0665	10	0.87932	D	0	.	7.7136	0.28692	0.9036:0.0:0.0964:0.0	.	70	Q99879	H2B1M_HUMAN	F	70	ENSP00000352442:I70F	ENSP00000352442:I70F	I	+	1	0	HIST1H2BM	27891008	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.721000	0.74728	1.869000	0.54173	0.460000	0.39030	ATC	.		0.562	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		T	27783029	A	T	27783029	3	4	31	1	0	0	0	0	1	0	0	0	7179	217	8	5	210	5	HIST1H2BM	6	27783029	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1331128	27783029	143332038	908	6460											
TRIM27	5987	hgsc.bcm.edu;broad.mit.edu	37	chr6	28872409	28872409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatcagagaggatcaggctgGggtaggccgtgtctgggtcc	17	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:28872409G>C	ENST00000377199.3	-	8	1336	c.980C>G	c.(979-981)cCc>cGc	p.P327R	TRIM27_ENST00000377194.3_Missense_Mutation_p.P327R	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GATCAGGCTGGGGTAGGCCGT	0.562			T	RET	papillary thyroid																																p.P327R		.		Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	.	TRIM27-684	0			c.C980G						.						39	42	41					6																	28872409		1509	2708	4217	SO:0001583	missense	5987	exon8			AGGCTGGGGTAGG	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.980C>G	6.37:g.28872409G>C	ENSP00000366404:p.Pro327Arg	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_006510	0	0	0	0	0	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599721	0.66332	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.13538	2.58;2.58	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.51477	D	0.000097	T	0.22399	0.0540	L	0.46947	1.48	0.39799	D	0.972545	P;D	0.89917	0.713;1.0	B;D	0.97110	0.42;1.0	T	0.00607	-1.1647	10	0.52906	T	0.07	.	16.0358	0.80628	0.0:0.0:1.0:0.0	.	327;327	P14373-2;P14373	.;TRI27_HUMAN	R	327	ENSP00000366404:P327R;ENSP00000366399:P327R	ENSP00000366399:P327R	P	-	2	0	TRIM27	28980388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.324000	0.52022	2.570000	0.86706	0.650000	0.86243	CCC	.		0.562	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		C	28872409	G	C	28872409	3	2	31	1	0	0	0	0	1	0	0	0	16549	1232	43	3	565	3	TRIM27	6	28872409	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1089380	28872409	142242658	909	6461											
GABBR1	2550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	29581230	29581230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtgtcttttcagtcgCttggttagtttctccacaaa	9	9	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:29581230C>A	ENST00000377034.4	-	12	1691	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	GABBR1_ENST00000377016.4_Missense_Mutation_p.K390N|GABBR1_ENST00000376977.3_Missense_Mutation_p.K452N|GABBR1_ENST00000377012.4_Missense_Mutation_p.K335N|GABBR1_ENST00000355973.3_Missense_Mutation_p.K335N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	452					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TTTTCAGTCGCTTGGTTAGTT	0.527																																					p.K452N		.											.	GABBR1-521	0			c.G1356T						.						122	131	128					6																	29581230		1510	2709	4219	SO:0001583	missense	2550	exon12			CAGTCGCTTGGTT	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.1356G>T	6.37:g.29581230C>A	ENSP00000366233:p.Lys452Asn	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	149	52	NM_001470	0	0	0	0	0	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995504	0.35226	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.84	-2.1	0.07210	Extracellular ligand-binding receptor (1);	0.283963	0.34291	N	0.004085	T	0.20941	0.0504	N	0.02775	-0.495	0.29208	N	0.874772	B;B;B;B	0.32010	0.026;0.321;0.101;0.351	B;B;B;B	0.29862	0.009;0.108;0.082;0.089	T	0.43540	-0.9385	10	0.11182	T	0.66	-3.7168	12.1722	0.54165	0.0:0.3289:0.0:0.6711	.	452;390;452;335	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	N	335;452;390;335;452	ENSP00000348248:K335N;ENSP00000366176:K452N;ENSP00000366215:K390N;ENSP00000366211:K335N;ENSP00000366233:K452N	ENSP00000348248:K335N	K	-	3	2	GABBR1	29689209	0.310000	0.24527	0.820000	0.32676	0.998000	0.95712	-0.170000	0.09897	-0.845000	0.04179	0.655000	0.94253	AAG	.		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			A	29581230	C	A	29581230	3	1	31	1	0	0	0	0	1	0	0	0	6179	796	28	3	1577	3	GABBR1	6	29581230	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	708821	29581230	141533837	910	6462											
TRIM10	10107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	30126189	30126189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccgtcaggagctccCttgctggcctctcattcttc	8	17	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:30126189C>A	ENST00000449742.2	-	3	818	c.743G>T	c.(742-744)aGg>aTg	p.R248M	TRIM10_ENST00000376704.3_Missense_Mutation_p.R248M	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	248					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGGAGCTCCCTTGCTGGCCT	0.537																																					p.R248M		.											.	TRIM10-226	0			c.G743T						.						161	180	173					6																	30126189		1511	2709	4220	SO:0001583	missense	10107	exon3			AGCTCCCTTGCTG	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.743G>T	6.37:g.30126189C>A	ENSP00000397073:p.Arg248Met	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	114	31	NM_052828	0	0	0	0	0	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274901	0.23307	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04603	3.59;3.59	5.77	0.733	0.18289	.	0.321086	0.27004	N	0.021408	T	0.06280	0.0162	M	0.81682	2.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.22347	-1.0219	10	0.23891	T	0.37	.	3.5056	0.07689	0.3015:0.4538:0.0:0.2447	.	248;248	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	M	248	ENSP00000397073:R248M;ENSP00000365894:R248M	ENSP00000365894:R248M	R	-	2	0	TRIM10	30234168	0.000000	0.05858	0.073000	0.20177	0.087000	0.18053	-0.343000	0.07791	0.095000	0.17434	-0.163000	0.13421	AGG	.		0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			A	30126189	C	A	30126189	3	1	31	1	0	0	0	0	1	0	0	0	16534	681	24	3	810	3	TRIM10	6	30126189	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	544959	30126189	140988878	911	6463											
C6orf136	221545	hgsc.bcm.edu	37	chr6	30615190	30615191	+	Intron	INS	-	-	GCG													gcgcaggcgcagagacacccINSgccgccccttcccacctgtg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:30615190_30615191insGCG	ENST00000376473.5	+	1	231				C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000493705.1_Intron|C6orf136_ENST00000293604.6_In_Frame_Ins_p.61_62PP>PRP|C6orf136_ENST00000376471.4_Intron|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGAGACACCCGCCGCCCCTTC	0.748																																					p.P61delinsPR		.											.	C6orf136-90	0			c.182_183insGCG						.																																			SO:0001627	intron_variant	221545	exon1			GACACCCGCCGCC	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.72+110->GCG	6.37:g.30615190_30615191insGCG		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	41	16	NM_001161376	0	0	0	0	0	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	In_Frame_Ins	INS	ENST00000376473.5	37	CCDS43443.1																																																																																			.		0.748	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		GCG	30615191	-	GCG	30615190	6	5	31	0	1	1	1	0	0	0	0	0	2338	652	23	0		0	C6orf136	6	30615190	Intron	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	489001	30615190	140499877	912	6464											
MICB	4277	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31474946	31474946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacacccagcagtgggGggatgtcctgcctgatggga	14	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31474946G>C	ENST00000252229.6	+	4	840	c.761G>C	c.(760-762)gGg>gCg	p.G254A	MICB_ENST00000399150.3_Missense_Mutation_p.G211A|MICB_ENST00000538442.1_Missense_Mutation_p.G222A	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CAGCAGTGGGGGGATGTCCTG	0.572																																					p.G254A		.											.	MICB-90	0			c.G761C						.						52	57	55					6																	31474946		1363	2609	3972	SO:0001583	missense	4277	exon4			AGTGGGGGGATGT		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.761G>C	6.37:g.31474946G>C	ENSP00000252229:p.Gly254Ala	Somatic	278	0		WXS	Illumina GAIIx	Phase_I	315	54	NM_005931	0	0	0	0	0		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	-	12.00	1.808009	0.31961	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.02787	4.16;4.16;4.16	2.73	-0.584	0.11702	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.495590	0.04858	U	0.443510	T	0.01905	0.0060	M	0.83312	2.635	0.09310	N	1	P;D;P	0.53619	0.641;0.961;0.947	B;P;P	0.53518	0.19;0.728;0.529	T	0.45804	-0.9236	10	0.02654	T	1	.	0.5103	0.00594	0.2476:0.1768:0.3631:0.2125	.	222;211;254	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	A	222;211;254	ENSP00000442345:G222A;ENSP00000382103:G211A;ENSP00000252229:G254A	ENSP00000252229:G254A	G	+	2	0	MICB	31582925	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.105000	0.10907	-0.336000	0.08438	-0.680000	0.03767	GGG	.		0.572	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		C	31474946	G	C	31474946	3	2	31	1	0	0	0	0	1	0	0	0	9613	1232	43	3	775	3	MICB	6	31474946	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	859756	31474946	139640121	913	6465											
C6orf47	57827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31627653	31627653	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgggttctgggtaaggCgggtcaggcctcattggttt	16	8	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31627653C>A	ENST00000375911.1	-	1	896	c.72G>T	c.(70-72)ccG>ccT	p.P24P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	24						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CTGGGTAAGGCGGGTCAGGCC	0.602																																					p.P24P		.											.	C6orf47-91	0			c.G72T						.						22	22	22					6																	31627653		1508	2708	4216	SO:0001819	synonymous_variant	57827	exon1			GTAAGGCGGGTCA	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.72G>T	6.37:g.31627653C>A		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	154	49	NM_021184	0	0	0	0	0	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	ENST00000375911.1	37	CCDS34399.1																																																																																			.		0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		A	31627653	C	A	31627653	2	1	31	1	0	0	0	0	0	0	0	1	2371	755	27	2		2	C6orf47	6	31627653	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	152707	31627653	139487414	914	6466											
VARS	7407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31759413	31759413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagggagtcctggatggcGttggtgagtgcatggcccag	18	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31759413G>A	ENST00000375663.3	-	8	1514	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	VARS_ENST00000444930.2_Silent_p.N63N	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	358					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGGATGGCGTTGGTGAGTG	0.582																																					p.N358N		.											.	VARS-93	0			c.C1074T						.						144	103	118					6																	31759413		1511	2708	4219	SO:0001819	synonymous_variant	7407	exon8			GATGGCGTTGGTG	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.1074C>T	6.37:g.31759413G>A		Somatic	231	0		WXS	Illumina GAIIx	Phase_I	251	43	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31759413	G	A	31759413	2	1	31	1	0	0	0	0	0	0	0	1	17172	1136	40	1		1	VARS	6	31759413	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	131760	31759413	139355654	915	6467											
RDBP	7936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31922485	31922485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccgatctcggtctctgtCccggttcctctcatggctgc	9	17	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31922485C>T	ENST00000375429.3	-	7	815	c.589G>A	c.(589-591)Gac>Aac	p.D197N	NELFE_ENST00000444811.2_Missense_Mutation_p.D167N|NELFE_ENST00000375425.5_Missense_Mutation_p.D204N|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	197	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										cggtctctgtcccggttcctc	0.642																																					p.D197N		.											.	.	0			c.G589A						.						42	41	41					6																	31922485		2203	4300	6503	SO:0001583	missense	7936	exon7			CTCTGTCCCGGTT	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.589G>A	6.37:g.31922485C>T	ENSP00000364578:p.Asp197Asn	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	78	29	NM_002904	0	0	0	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786445	0.70337	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.11712	2.75;2.75;2.98;2.75;2.75;2.75	5.31	4.44	0.53790	.	0.225092	0.35349	N	0.003271	T	0.02047	0.0064	N	0.08118	0	0.40543	D	0.981049	B;B;B;B	0.18310	0.004;0.027;0.027;0.01	B;B;B;B	0.14023	0.002;0.01;0.007;0.002	T	0.33675	-0.9859	10	0.51188	T	0.08	-19.2003	8.5925	0.33697	0.0:0.7641:0.1534:0.0824	.	167;192;192;197	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	N	197;204;167;192;197;192	ENSP00000364578:D197N;ENSP00000364574:D204N;ENSP00000388400:D167N;ENSP00000397914:D192N;ENSP00000409389:D197N;ENSP00000414029:D192N	ENSP00000364574:D204N	D	-	1	0	RDBP	32030464	0.969000	0.33509	1.000000	0.80357	0.960000	0.62799	3.499000	0.53310	1.250000	0.43966	0.655000	0.94253	GAC	.		0.642	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			T	31922485	C	T	31922485	3	4	31	1	0	0	0	0	1	0	0	0	13233	855	30	3	573	3	RDBP	6	31922485	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	163072	31922485	139192582	916	6468											
RDBP	7936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31926215	31926215	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgctcagtccggggggtatCaccaacatggtggctcctag	13	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31926215C>T	ENST00000375429.3	-	2	235	c.9G>A	c.(7-9)gtG>gtA	p.V3V	NELFE_ENST00000444811.2_Silent_p.V3V|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000375425.5_Silent_p.V10V|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	3					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGGGGGGTATCACCAACATGG	0.552																																					p.V3V		.											.	.	0			c.G9A						.						145	136	139					6																	31926215		1511	2709	4220	SO:0001819	synonymous_variant	7936	exon2			GGGTATCACCAAC	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.9G>A	6.37:g.31926215C>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	78	34	NM_002904	0	0	0	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	CCDS4730.1																																																																																			.		0.552	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			T	31926215	C	T	31926215	2	4	31	1	0	0	0	0	0	0	0	1	13233	813	29	3		3	RDBP	6	31926215	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3730	31926215	139188852	917	6469											
RXRB	6257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33164382	33164382	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgacgctcctcctgtacCgctgcagggggaagggggag	17	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33164382C>A	ENST00000374680.3	-	5	1033	c.822G>T	c.(820-822)gcG>gcT	p.A274A	RXRB_ENST00000374685.4_Splice_Site_p.A274A|RXRB_ENST00000544186.1_Splice_Site_p.A84A|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000413614.2_Splice_Site_p.A178A	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	274	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCCTGTACCGCTGCAGGGG	0.607																																					p.A274A		.											.	RXRB-189	0			c.G822T						.						40	52	48					6																	33164382		1503	2703	4206	SO:0001630	splice_region_variant	6257	exon5			CTGTACCGCTGCA	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.821-1G>T	6.37:g.33164382C>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	60	12	NM_021976	0	0	0	0	0	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	CCDS4768.1																																																																																			C|1.000;T|0.000		0.607	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	Silent	A	33164382	C	A	33164382	5	1	31	1	0	0	0	0	0	0	1	0	13809	666	23	2	803	2	RXRB	6	33164382	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1238167	33164382	137950685	918	6470											
ZBTB22	9278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33283358	33283358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgttctgcttggttccCtggtggttggccaggagcct	14	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33283358C>A	ENST00000431845.2	-	2	1487	c.1336G>T	c.(1336-1338)Ggg>Tgg	p.G446W	ZBTB22_ENST00000418724.1_Missense_Mutation_p.G446W|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTTGGTTCCCTGGTGGTTGG	0.652																																					p.G446W		.											.	ZBTB22-69	0			c.G1336T						.						106	117	113					6																	33283358		2203	4300	6503	SO:0001583	missense	9278	exon2			GGTTCCCTGGTGG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1336G>T	6.37:g.33283358C>A	ENSP00000407545:p.Gly446Trp	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	259	93	NM_001145338	0	0	0	0	0	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211261	0.39102	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08282	3.11;3.11	4.22	3.35	0.38373	.	0.000000	0.34156	N	0.004215	T	0.05960	0.0155	L	0.47716	1.5	0.32832	D	0.504209	D	0.58620	0.983	P	0.53006	0.715	T	0.17684	-1.0361	10	0.46703	T	0.11	.	7.7456	0.28866	0.0:0.8846:0.0:0.1154	.	446	O15209	ZBT22_HUMAN	W	446	ENSP00000404403:G446W;ENSP00000407545:G446W	ENSP00000404403:G446W	G	-	1	0	ZBTB22	33391336	0.993000	0.37304	0.988000	0.46212	0.917000	0.54804	1.528000	0.35985	0.980000	0.38523	0.448000	0.29417	GGG	.		0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			A	33283358	C	A	33283358	3	1	31	1	0	0	0	0	1	0	0	0	17578	681	24	3	572	3	ZBTB22	6	33283358	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	118976	33283358	137831709	919	6471											
PHF1	5252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33381015	33381015	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcccagggctccagcccctgGagagggagagggcacatcct	14	14	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33381015G>C	ENST00000374516.3	+	5	651	c.380G>C	c.(379-381)gGa>gCa	p.G127A	PHF1_ENST00000374512.3_Missense_Mutation_p.G127A	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	127					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCAGCCCCTGGAGAGGGAGAG	0.552																																					p.G127A		.											.	PHF1-226	0			c.G380C						.						112	111	111					6																	33381015		2203	4300	6503	SO:0001583	missense	5252	exon5			CCCCTGGAGAGGG	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.380G>C	6.37:g.33381015G>C	ENSP00000363640:p.Gly127Ala	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	122	57	NM_002636	0	0	0	0	0	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919239	0.33908	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.9	4.9	0.64082	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.550372	0.19208	N	0.120003	T	0.52805	0.1757	N	0.03324	-0.35	0.37395	D	0.912614	B;B	0.25563	0.113;0.129	B;B	0.26517	0.07;0.048	T	0.53542	-0.8424	10	0.06757	T	0.87	-23.1353	11.3345	0.49496	0.0:0.1832:0.8168:0.0	.	127;127	O43189-2;O43189	.;PHF1_HUMAN	A	127	ENSP00000410494:G127A;ENSP00000392697:G127A;ENSP00000363636:G127A;ENSP00000363640:G127A	ENSP00000363636:G127A	G	+	2	0	PHF1	33488993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	2.547000	0.85894	0.655000	0.94253	GGA	.		0.552	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			C	33381015	G	C	33381015	3	2	31	1	0	0	0	0	1	0	0	0	11859	1174	41	3	394	3	PHF1	6	33381015	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	97657	33381015	137734052	920	6472											
GRM4	2914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	34101175	34101175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagggtggcctttgggCtttcccagggaggaaggcat	17	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:34101175C>A	ENST00000538487.2	-	2	542	c.99G>T	c.(97-99)aaG>aaT	p.K33N	GRM4_ENST00000374181.4_Missense_Mutation_p.K33N|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	33					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGCCTTTGGGCTTTCCCAGGG	0.637																																					p.K33N		.											.	GRM4-525	0			c.G99T						.						34	33	34					6																	34101175		2201	4300	6501	SO:0001583	missense	2914	exon2			TTTGGGCTTTCCC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.99G>T	6.37:g.34101175C>A	ENSP00000440556:p.Lys33Asn	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	210	76	NM_001256811	0	0	0	0	0	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591166	0.28357	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.88509	-2.39;-2.39	4.19	1.38	0.22167	.	0.064315	0.64402	D	0.000016	T	0.68577	0.3016	L	0.29908	0.895	0.80722	D	1	P;B	0.40638	0.725;0.0	B;B	0.37387	0.248;0.001	T	0.64360	-0.6426	10	0.26408	T	0.33	.	9.0844	0.36572	0.0:0.6667:0.0:0.3333	.	33;33	B7ZLU9;Q14833	.;GRM4_HUMAN	N	33	ENSP00000363296:K33N;ENSP00000440556:K33N	ENSP00000363296:K33N	K	-	3	2	GRM4	34209153	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.633000	0.37113	0.522000	0.28464	0.467000	0.42956	AAG	.		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34101175	C	A	34101175	3	1	31	1	0	0	0	0	1	0	0	0	6826	796	28	3	2679	3	GRM4	6	34101175	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	720160	34101175	137013892	921	6473											
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	38890846	38890846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgcaggatttgcttaatGacgctgatacgtgccggaaa	13	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:38890846G>T	ENST00000359357.3	+	70	10278	c.10024G>T	c.(10024-10026)Gac>Tac	p.D3342Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.D3559Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3306Y|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3342	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(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						TTTGCTTAATGACGCTGATAC	0.423																																					p.D3559Y		.											.	DNAH8-615	0			c.G10675T						.						55	57	56					6																	38890846		2203	4300	6503	SO:0001583	missense	1769	exon72			CTTAATGACGCTG	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.10024G>T	6.37:g.38890846G>T	ENSP00000352312:p.Asp3342Tyr	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	37	9	NM_001206927	0	0	0	0	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.419959	0.83559	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.51	5.51	0.81932	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91832	0.5476	10	0.87932	D	0	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	3342	Q96JB1	DYH8_HUMAN	Y	3547;3547;3342;3306	ENSP00000415331:D3547Y;ENSP00000333363:D3547Y;ENSP00000352312:D3342Y;ENSP00000402294:D3306Y	ENSP00000333363:D3547Y	D	+	1	0	DNAH8	38998824	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.766000	0.98957	2.746000	0.94184	0.655000	0.94253	GAC	.		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38890846	G	T	38890846	3	4	31	1	0	0	0	0	1	0	0	0	4621	1290	45	3	10294	3	DNAH8	6	38890846	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4789671	38890846	132224221	922	6474											
KCNK5	8645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	39162077	39162077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggactaggacgccccacaCgatgaagatgactgtgcacg	13	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39162077C>A	ENST00000359534.3	-	4	840	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	168					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACGCCCCACACGATGAAGATG	0.557																																					p.V168L		.											.	KCNK5-227	0			c.G502T						.						150	114	126					6																	39162077		2203	4300	6503	SO:0001583	missense	8645	exon4			CCCACACGATGAA	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.502G>T	6.37:g.39162077C>A	ENSP00000352527:p.Val168Leu	Somatic	358	1		WXS	Illumina GAIIx	Phase_I	401	134	NM_003740	0	0	0	0	0	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	4.879	0.163455	0.09287	.	.	ENSG00000164626	ENST00000359534	T	0.20463	2.07	5.84	-1.37	0.09056	.	0.549694	0.18851	N	0.129395	T	0.00998	0.0033	N	0.00765	-1.205	0.31561	N	0.657527	B	0.02656	0.0	B	0.08055	0.003	T	0.41998	-0.9477	10	0.02654	T	1	.	5.5888	0.17289	0.1009:0.3568:0.4213:0.1209	.	168	O95279	KCNK5_HUMAN	L	168	ENSP00000352527:V168L	ENSP00000352527:V168L	V	-	1	0	KCNK5	39270055	0.357000	0.24938	0.957000	0.39632	0.985000	0.73830	-0.036000	0.12185	-0.153000	0.11137	-0.305000	0.09177	GTG	.		0.557	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		A	39162077	C	A	39162077	3	1	31	1	0	0	0	0	1	0	0	0	8096	536	19	2	1005	2	KCNK5	6	39162077	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	271231	39162077	131952990	923	6475											
KCNK16	83795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	39284652	39284652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacatggctgaagacCatgggtgggaagatgagaat	13	9	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39284652C>A	ENST00000373229.5	-	4	580	c.567G>T	c.(565-567)atG>atT	p.M189I	KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000373227.4_Missense_Mutation_p.M189I|KCNK16_ENST00000437525.2_Missense_Mutation_p.M189I|KCNK16_ENST00000507712.1_Missense_Mutation_p.M124I|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000425054.2_Missense_Mutation_p.M189I	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	189					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						GGCTGAAGACCATGGGTGGGA	0.562																																					p.M189I		.											.	KCNK16-229	0			c.G567T						.						116	115	115					6																	39284652		2203	4300	6503	SO:0001583	missense	83795	exon4			GAAGACCATGGGT	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.567G>T	6.37:g.39284652C>A	ENSP00000362326:p.Met189Ile	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	112	40	NM_001135106	0	0	0	0	0	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292685	0.23564	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.5	4.63	0.57726	Ion transport 2 (1);	0.202066	0.50627	N	0.000102	T	0.06234	0.0161	N	0.12920	0.275	0.33118	D	0.541428	B;B;B;B	0.17667	0.001;0.0;0.023;0.005	B;B;B;B	0.17098	0.002;0.0;0.006;0.017	T	0.18903	-1.0322	10	0.13470	T	0.59	.	15.9776	0.80083	0.0:0.8647:0.1353:0.0	.	189;189;189;189	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	I	189;189;124;189;189	ENSP00000362326:M189I;ENSP00000391498:M189I;ENSP00000423842:M124I;ENSP00000362324:M189I;ENSP00000415375:M189I	ENSP00000362324:M189I	M	-	3	0	KCNK16	39392630	0.006000	0.16342	0.771000	0.31576	0.465000	0.32709	0.113000	0.15499	1.322000	0.45245	0.561000	0.74099	ATG	.		0.562	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		A	39284652	C	A	39284652	3	1	31	1	0	0	0	0	1	0	0	0	8090	594	21	3	759	3	KCNK16	6	39284652	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	122575	39284652	131830415	924	6476											
DAAM2	23500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	39851832	39851832	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagatgttttcagcctAccagaggcaccaggtaagac	10	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39851832A>T	ENST00000398904.2	+	15	2122	c.1940A>T	c.(1939-1941)tAc>tTc	p.Y647F	DAAM2_ENST00000538976.1_Missense_Mutation_p.Y647F|DAAM2_ENST00000274867.4_Missense_Mutation_p.Y647F|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	647	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTTTCAGCCTACCAGAGGCAC	0.493																																					p.Y647F		.											.	DAAM2-228	0			c.A1940T						.						68	65	66					6																	39851832		1895	4115	6010	SO:0001583	missense	23500	exon15			CAGCCTACCAGAG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1940A>T	6.37:g.39851832A>T	ENSP00000381876:p.Tyr647Phe	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	96	45	NM_015345	0	0	0	0	0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661171	0.88154	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17213	2.29;2.29;2.29	5.93	5.93	0.95920	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.91635	0.995;0.999	T	0.40646	-0.9552	10	0.87932	D	0	.	16.0444	0.80711	1.0:0.0:0.0:0.0	.	647;647	G5EA45;Q86T65	.;DAAM2_HUMAN	F	647	ENSP00000274867:Y647F;ENSP00000381876:Y647F;ENSP00000437808:Y647F	ENSP00000274867:Y647F	Y	+	2	0	DAAM2	39959810	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	9.294000	0.96088	2.271000	0.75665	0.459000	0.35465	TAC	.		0.493	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			T	39851832	A	T	39851832	3	4	31	1	0	0	0	0	1	0	0	0	4225	391	14	5	1994	5	DAAM2	6	39851832	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	567180	39851832	131263235	925	6477											
LRFN2	57497	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	40359771	40359771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagggcaagagcatgcCgttgacagagaggctgcgct	14	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:40359771C>T	ENST00000338305.6	-	3	2823	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	761						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGAGCATGCCGTTGACAGAG	0.652																																					p.G761S		.											.	LRFN2-93	0			c.G2281A						.						51	50	50					6																	40359771		2203	4300	6503	SO:0001583	missense	57497	exon3			GCATGCCGTTGAC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2281G>A	6.37:g.40359771C>T	ENSP00000345985:p.Gly761Ser	Somatic	233	1		WXS	Illumina GAIIx	Phase_I	312	116	NM_020737	0	0	0	0	0	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297598	0.81025	.	.	ENSG00000156564	ENST00000338305	T	0.68025	-0.3	5.23	4.36	0.52297	.	0.046795	0.85682	D	0.000000	T	0.71117	0.3302	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75028	-0.3462	10	0.59425	D	0.04	.	13.9191	0.63919	0.1536:0.8464:0.0:0.0	.	761	Q9ULH4	LRFN2_HUMAN	S	761	ENSP00000345985:G761S	ENSP00000345985:G761S	G	-	1	0	LRFN2	40467749	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.703000	0.84585	1.198000	0.43158	-0.334000	0.08254	GGC	.		0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40359771	C	T	40359771	3	4	31	1	0	0	0	0	1	0	0	0	8973	652	23	1	92	1	LRFN2	6	40359771	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	507939	40359771	130755296	926	6478											
FOXP4	116113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41555166	41555166	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccgctacctcgtttgCcgctccccccaaggtctcac	7	21	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:41555166C>G	ENST00000307972.4	+	6	800	c.788C>G	c.(787-789)gCc>gGc	p.A263G	FOXP4_ENST00000373063.3_Missense_Mutation_p.A262G|FOXP4_ENST00000373060.1_Missense_Mutation_p.A263G|FOXP4_ENST00000409208.1_Missense_Mutation_p.A263G|FOXP4_ENST00000373057.3_Missense_Mutation_p.A261G			Q8IVH2	FOXP4_HUMAN	forkhead box P4	263					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCTCGTTTGCCGCTCCCCCC	0.682											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A263G		.											.	FOXP4-289	0			c.C788G						.						70	73	72					6																	41555166		2203	4300	6503	SO:0001583	missense	116113	exon7			CGTTTGCCGCTCC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.788C>G	6.37:g.41555166C>G	ENSP00000309823:p.Ala263Gly	Somatic	192	0	902	WXS	Illumina GAIIx	Phase_I	333	42	NM_001012426	0	0	0	0	0	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684816	0.29872	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.92	4.92	0.64577	.	0.331531	0.27371	N	0.019674	T	0.09512	0.0234	N	0.08118	0	0.22066	N	0.999384	B;B;B	0.20261	0.043;0.043;0.0	B;B;B	0.19946	0.027;0.027;0.002	T	0.20042	-1.0287	10	0.51188	T	0.08	.	18.2964	0.90147	0.0:1.0:0.0:0.0	.	262;261;263	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	G	263;262;263;261;263	ENSP00000362151:A263G;ENSP00000362154:A262G;ENSP00000386958:A263G;ENSP00000362148:A261G;ENSP00000309823:A263G	ENSP00000309823:A263G	A	+	2	0	FOXP4	41663144	0.982000	0.34865	0.474000	0.27266	0.006000	0.05464	2.681000	0.46926	2.546000	0.85860	0.655000	0.94253	GCC	.		0.682	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		G	41555166	C	G	41555166	3	3	31	1	0	0	0	0	1	0	0	0	6053	739	26	3	810	3	FOXP4	6	41555166	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1195395	41555166	129559901	927	6479											
PTCRA	171558	hgsc.bcm.edu	37	chr6	42893152	42893152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgcctgcgagccctcggctCccatcgactgcacccggcca	10	21	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:42893152C>A	ENST00000304672.1	+	4	659	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	PTCRA_ENST00000441198.1_Missense_Mutation_p.S168Y|PTCRA_ENST00000446507.1_Missense_Mutation_p.S86Y	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	193					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCTCGGCTCCCATCGACTG	0.726																																					p.S208Y		.											.	PTCRA-92	0			c.C623A						.						9	8	9					6																	42893152		2102	4063	6165	SO:0001583	missense	171558	exon4			TCGGCTCCCATCG	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.578C>A	6.37:g.42893152C>A	ENSP00000304447:p.Ser193Tyr	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	78	31	NM_001243168	0	0	0	0	0	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016584	0.19355	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507	T;T;T	0.54866	1.21;1.19;0.55	3.99	1.11	0.20524	.	3.827400	0.00834	N	0.001692	T	0.16727	0.0402	N	0.14661	0.345	0.09310	N	1	P;P;B	0.35328	0.495;0.495;0.345	B;B;B	0.34242	0.178;0.125;0.088	T	0.18935	-1.0321	10	0.72032	D	0.01	.	4.8851	0.13699	0.0:0.6141:0.1753:0.2106	.	86;168;193	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	Y	193;168;86	ENSP00000304447:S193Y;ENSP00000409550:S168Y;ENSP00000392288:S86Y	ENSP00000304447:S193Y	S	+	2	0	PTCRA	43001130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.083000	0.14871	0.079000	0.16929	-0.137000	0.14449	TCC	.		0.726	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		A	42893152	C	A	42893152	3	1	31	1	0	0	0	0	1	0	0	0	12777	855	30	3	592	3	PTCRA	6	42893152	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1337986	42893152	128221915	928	6480											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_000287	0	0	0	0	0	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	31	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	53338	42946490	128168577	929	6481											
KLC4	89953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43038449	43038449	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgggcacgaatcatcCagatgtggcaaaacagctga	12	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43038449C>G	ENST00000394056.2	+	9	1496	c.1001C>G	c.(1000-1002)cCa>cGa	p.P334R	KLC4_ENST00000347162.5_Missense_Mutation_p.P334R|KLC4_ENST00000394058.1_Missense_Mutation_p.P334R|KLC4_ENST00000259708.3_Missense_Mutation_p.P352R|KLC4_ENST00000453940.2_Missense_Mutation_p.P257R|KLC4_ENST00000479388.1_Missense_Mutation_p.P334R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	334						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACGAATCATCCAGATGTGGCA	0.512																																					p.P352R		.											.	KLC4-94	0			c.C1055G						.						89	80	83					6																	43038449		2203	4300	6503	SO:0001583	missense	89953	exon8			ATCATCCAGATGT	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1001C>G	6.37:g.43038449C>G	ENSP00000377620:p.Pro334Arg	Somatic	207	0		WXS	Illumina GAIIx	Phase_I	293	111	NM_201523	0	0	0	0	0	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916632	0.92249	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.69561	-0.41;0.47;-0.41;-0.41;-0.41;-0.41	6.05	6.05	0.98169	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	D	0.83211	0.5205	M	0.85099	2.735	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	0.84155	0.0425	10	0.87932	D	0	-17.8706	20.6087	0.99469	0.0:1.0:0.0:0.0	.	257;352;334	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	R	334;257;352;334;334;334	ENSP00000340221:P334R;ENSP00000395806:P257R;ENSP00000259708:P352R;ENSP00000418031:P334R;ENSP00000377620:P334R;ENSP00000377622:P334R	ENSP00000259708:P352R	P	+	2	0	KLC4	43146427	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.007000	0.70731	2.866000	0.98385	0.650000	0.86243	CCA	.		0.512	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		G	43038449	C	G	43038449	3	3	31	1	0	0	0	0	1	0	0	0	8363	594	21	3	1154	3	KLC4	6	43038449	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	91959	43038449	128076618	930	6482											
SLC22A7	10864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43266402	43266402	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaggcagagccgtggGgagctggaggatgaacctgc	18	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43266402G>C	ENST00000372585.5	+	1	401	c.306G>C	c.(304-306)ggG>ggC	p.G102G	SLC22A7_ENST00000372574.3_Silent_p.G102G|SLC22A7_ENST00000372589.3_Silent_p.G102G|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	102					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGAGCCGTGGGGAGCTGGAGG	0.602																																					p.G102G		.											.	SLC22A7-90	0			c.G306C						.						48	52	50					6																	43266402		2203	4300	6503	SO:0001819	synonymous_variant	10864	exon1			CCGTGGGGAGCTG	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.306G>C	6.37:g.43266402G>C		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	130	55	NM_006672	0	0	0	0	0	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	CCDS4893.2																																																																																			.		0.602	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			C	43266402	G	C	43266402	2	2	31	1	0	0	0	0	0	0	0	1	14504	1219	43	3		3	SLC22A7	6	43266402	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	227953	43266402	127848665	931	6483											
TJAP1	93643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43472938	43472938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgaggataaggttcGgatcccccgcaacagccccc	10	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43472938G>T	ENST00000372445.5	+	11	1395	c.1019G>T	c.(1018-1020)cGg>cTg	p.R340L	TJAP1_ENST00000436109.2_Missense_Mutation_p.R330L|TJAP1_ENST00000372449.1_Missense_Mutation_p.R340L|TJAP1_ENST00000372452.1_Missense_Mutation_p.R330L|TJAP1_ENST00000372444.2_Missense_Mutation_p.R330L|TJAP1_ENST00000438588.2_Missense_Mutation_p.R340L|TJAP1_ENST00000259751.1_Missense_Mutation_p.R330L|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	340					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GATAAGGTTCGGATCCCCCGC	0.627																																					p.R340L		.											.	TJAP1-90	0			c.G1019T						.						71	78	76					6																	43472938		2203	4300	6503	SO:0001583	missense	93643	exon11			AGGTTCGGATCCC	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1019G>T	6.37:g.43472938G>T	ENSP00000361522:p.Arg340Leu	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	107	35	NM_001146016	0	0	0	0	0	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	g	19.92	3.915956	0.73098	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.57	3.81	0.43845	.	0.105878	0.64402	D	0.000008	T	0.44008	0.1273	M	0.62723	1.935	0.35502	D	0.799876	P;P	0.51933	0.949;0.949	P;P	0.48524	0.58;0.58	T	0.52200	-0.8607	9	0.72032	D	0.01	-38.2399	12.1705	0.54155	0.1381:0.0:0.8619:0.0	.	340;330	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	L	330;340;330;330;330;330;340;340	.	ENSP00000259751:R330L	R	+	2	0	TJAP1	43580916	1.000000	0.71417	0.796000	0.32109	0.992000	0.81027	4.238000	0.58688	0.734000	0.32515	-0.119000	0.15052	CGG	.		0.627	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		T	43472938	G	T	43472938	3	4	31	1	0	0	0	0	1	0	0	0	15975	1116	39	2	1049	2	TJAP1	6	43472938	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	206536	43472938	127642129	932	6484											
POLR1C	9533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43488718	43488718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccggctggataccttcagcaGagaaatcttccggaatgaga	11	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43488718G>T	ENST00000372389.3	+	8	942	c.854G>T	c.(853-855)aGa>aTa	p.R285I	POLR1C_ENST00000304004.3_Missense_Mutation_p.R285I|POLR1C_ENST00000372344.2_Missense_Mutation_p.R235I|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	285					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACCTTCAGCAGAGAAATCTTC	0.448																																					p.R285I		.											.	POLR1C-90	0			c.G854T						.						97	104	101					6																	43488718		2203	4300	6503	SO:0001583	missense	9533	exon8			TCAGCAGAGAAAT	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.854G>T	6.37:g.43488718G>T	ENSP00000361465:p.Arg285Ile	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	91	34	NM_203290	0	0	0	0	0	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790353	0.90367	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	D;D;D	0.84223	-1.82;-1.82;-1.82	4.89	4.89	0.63831	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93950	0.7231	10	0.87932	D	0	-16.6097	18.109	0.89529	0.0:0.0:1.0:0.0	.	285;285	O15160-2;O15160	.;RPAC1_HUMAN	I	285;149;235;285	ENSP00000361465:R285I;ENSP00000361419:R235I;ENSP00000307212:R285I	ENSP00000307212:R285I	R	+	2	0	POLR1C	43596696	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.671000	0.98627	2.262000	0.75019	0.454000	0.30748	AGA	.		0.448	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		T	43488718	G	T	43488718	3	4	31	1	0	0	0	0	1	0	0	0	12250	942	33	3	884	3	POLR1C	6	43488718	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15780	43488718	127626349	933	6485											
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46657182	46657182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtttggagtacagtcGtgttgcttggctgaccgagt	15	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:46657182G>A	ENST00000316081.6	+	1	1317	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.S439S|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	439					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)			GAGTACAGTCGTGTTGCTTGG	0.453																																					p.S439S		.											.	TDRD6-138	0			c.G1317A						.						88	85	86					6																	46657182		2203	4300	6503	SO:0001819	synonymous_variant	221400	exon1			ACAGTCGTGTTGC	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.1317G>A	6.37:g.46657182G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	50	21	NM_001168359	0	0	0	0	0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																			.		0.453	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		A	46657182	G	A	46657182	2	1	31	1	0	0	0	0	0	0	0	1	15781	1132	40	1		1	TDRD6	6	46657182	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3168464	46657182	124457885	934	6486											
PLA2G7	7941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46677128	46677128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaaagaatgtccaattaCtgctattttttccctatcaa	3	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:46677128C>A	ENST00000274793.7	-	9	1001	c.805G>T	c.(805-807)Gta>Tta	p.V269L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.V269L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	269					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTCCAATTACTGCTATTTTT	0.308																																					p.V269L		.											.	PLA2G7-90	0			c.G805T						.						92	93	93					6																	46677128		2203	4294	6497	SO:0001583	missense	7941	exon9			CAATTACTGCTAT	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.805G>T	6.37:g.46677128C>A	ENSP00000274793:p.Val269Leu	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	80	16	NM_005084	0	0	0	0	0	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380582	0.42207	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.59772	0.24;0.24	5.93	-8.0	0.01126	.	0.854563	0.10484	N	0.669262	T	0.15565	0.0375	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.13145	0.007;0.007	B;B	0.12837	0.008;0.008	T	0.23368	-1.0190	10	0.13108	T	0.6	.	10.3598	0.43987	0.0891:0.3208:0.0:0.5901	.	269;269	A8K2W6;Q13093	.;PAFA_HUMAN	L	269	ENSP00000274793:V269L;ENSP00000445666:V269L	ENSP00000274793:V269L	V	-	1	0	PLA2G7	46785087	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.563000	0.05943	-1.778000	0.01282	-0.345000	0.07892	GTA	.		0.308	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			A	46677128	C	A	46677128	3	1	31	1	0	0	0	0	1	0	0	0	12048	565	20	3	536	3	PLA2G7	6	46677128	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	19946	46677128	124437939	935	6487											
GPR111	222611	hgsc.bcm.edu	37	chr6	47649787	47649793	+	Frame_Shift_Del	DEL	GCAGATG	GCAGATG	-													ttgcagccactttgctgatgGcagatgtgtggttcattgtg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GCAGATG	GCAGATG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649787_47649793delGCAGATG	ENST00000296862.1	+	6	1492_1498	c.1492_1498delGCAGATG	c.(1492-1500)gcagatgtgfs	p.ADV498fs	GPR111_ENST00000507065.1_Frame_Shift_Del_p.ADV430fs|GPR111_ENST00000398742.2_Frame_Shift_Del_p.ADV430fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	498					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTGCTGATGGCAGATGTGTGGTTCAT	0.44																																					p.430_432del		.											.	GPR111-91	0			c.1288_1294del						.																																			SO:0001589	frameshift_variant	222611	exon7			CTGATGGCAGATG	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1492_1498delGCAGATG	6.37:g.47649787_47649793delGCAGATG	ENSP00000296862:p.Ala498fs	Somatic	261	0		WXS	Illumina GAIIx	Phase_I	278	0	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	ENST00000296862.1	37																																																																																				.		0.44	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		-	47649793	GCAGATG	-	47649787	7	5	31	1	0	1	0	1	0	0	0	0	6654	1203	42	0	1306	0	GPR111	6	47649787	Frame_Shift_Del	DEL	GCAGATG	TCGA-OR-A5KB-01A-11D-A30A-10	972659	47649787	123465280	936	6488	51	3									
GPR111	222611	hgsc.bcm.edu	37	chr6	47649791	47649791	+	Missense_Mutation	SNP	A	A	G													agccactttgctgatggcagAtgtgtggttcattgtggctt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649791A>G	ENST00000296862.1	+	6	1496	c.1496A>G	c.(1495-1497)gAt>gGt	p.D499G	GPR111_ENST00000507065.1_Missense_Mutation_p.D431G|GPR111_ENST00000398742.2_Missense_Mutation_p.D431G			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	499					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGATGGCAGATGTGTGGTTC	0.443																																					p.D431G		.											.	GPR111-91	0			c.A1292G						.						83	78	80					6																	47649791		2032	4203	6235	SO:0001583	missense	222611	exon7			TGGCAGATGTGTG	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1496A>G	6.37:g.47649791A>G	ENSP00000296862:p.Asp499Gly	Somatic	269	0		WXS	Illumina GAIIx	Phase_I	278	34	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	A	20.5	4.000425	0.74818	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.44881	0.91;0.91;0.91	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.59348	0.2187	M	0.85462	2.755	0.46167	D	0.998906	D;D	0.65815	0.964;0.995	P;D	0.64321	0.742;0.924	T	0.68176	-0.5478	10	0.87932	D	0	.	14.8104	0.69992	1.0:0.0:0.0:0.0	.	431;499	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	G	431;499;431	ENSP00000422934:D431G;ENSP00000296862:D499G;ENSP00000381727:D431G	ENSP00000296862:D499G	D	+	2	0	GPR111	47757750	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.306000	0.96204	2.094000	0.63399	0.533000	0.62120	GAT	.		0.443	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		G	47649791	A	G	47649791	3	3	31	1	0	0	0	0	1	0	0	0	6654	333	12	4	1310	4	GPR111	6	47649791	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4	47649791	123465276	937	6489	51	3									
GPR111	222611	broad.mit.edu;bcgsc.ca	37	chr6	47649793	47649794	+	Frame_Shift_Ins	INS	-	-	A													cactttgctgatggcagatgINStgtggttcattgtggcttcc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649793_47649794insA	ENST00000296862.1	+	6	1498_1499	c.1498_1499insA	c.(1498-1500)gtgfs	p.V500fs	GPR111_ENST00000507065.1_Frame_Shift_Ins_p.V432fs|GPR111_ENST00000398742.2_Frame_Shift_Ins_p.V432fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	500					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATGGCAGATGTGTGGTTCATT	0.436																																					p.V432fs		.											.	GPR111-91	0			c.1294_1295insA						.																																			SO:0001589	frameshift_variant	222611	exon7			GCAGATGTGTGGT	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	Exception_encountered	6.37:g.47649793_47649794insA	ENSP00000296862:p.Val500fs	Somatic	267	0		WXS	Illumina GAIIx	Phase_I	281	35	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Ins	INS	ENST00000296862.1	37																																																																																				.		0.436	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		A	47649794	-	A	47649793	7	5	31	1	0	1	1	0	0	0	0	0	6654	1377	48	0	1312	0	GPR111	6	47649793	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	2	47649793	123465274	938	6490	51	3									
RHAG	6005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	49574560	49574560	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttagaatactgtacagtaCcttccaataaacagaatcat	5	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49574560C>T	ENST00000371175.4	-	9	1239		c.e9+1		RHAG_ENST00000229810.7_Splice_Site	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						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)					CTGTACAGTACCTTCCAATAA	0.408																																					.	Ovarian(176;476 2003 7720 43408 44749)	.											.	RHAG-154	0			c.1212+1G>A						.						113	103	106					6																	49574560		2203	4300	6503	SO:0001630	splice_region_variant	6005	exon10			ACAGTACCTTCCA		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.1212+1G>A	6.37:g.49574560C>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	82	33	NM_000324	0	0	0	0	0	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Splice_Site	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739286	0.89573	.	.	ENSG00000112077	ENST00000371175;ENST00000418071	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1705	0.93575	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHAG	49682519	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.302000	0.78861	2.771000	0.95319	0.650000	0.86243	.	.		0.408	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Intron	T	49574560	C	T	49574560	5	4	31	1	0	0	0	0	0	0	1	0	13360	521	18	3	24	3	RHAG	6	49574560	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1924767	49574560	121540507	939	6491											
CRISP3	10321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49701562	49701562	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctcaccacattttagacCtaagaaggaacagaccactc	5	12	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49701562C>A	ENST00000393666.1	-	4	284		c.e4-1		CRISP3_ENST00000433368.2_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000423399.2_Splice_Site			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATTTTAGACCTAAGAAGGAA	0.413																																					.		.											.	CRISP3-92	0			c.347-1G>T						.						127	120	122					6																	49701562		2203	4300	6503	SO:0001630	splice_region_variant	10321	exon6			TTAGACCTAAGAA	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.278-1G>T	6.37:g.49701562C>A		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	151	63	NM_001190986	0	0	0	0	0	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37		.	.	.	.	.	.	.	.	.	.	C	7.196	0.592530	0.13875	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	.	.	.	5.1	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.23669	N	0.997156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4718	0.11715	0.0:0.6125:0.1866:0.2009	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49809521	0.992000	0.36948	0.009000	0.14445	0.042000	0.13812	4.742000	0.62103	0.510000	0.28216	-0.237000	0.12165	.	.		0.413	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron	A	49701562	C	A	49701562	5	1	31	1	0	0	0	0	0	0	1	0	3888	695	24	3	476	3	CRISP3	6	49701562	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	127002	49701562	121413505	940	6492											
PGK2	5232	hgsc.bcm.edu;bcgsc.ca	37	chr6	49754216	49754216	+	Frame_Shift_Del	DEL	C	C	-													aatcatctcattgactttgtCcagcatatttttgataagtt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49754216delC	ENST00000304801.3	-	1	837	c.685delG	c.(685-687)gacfs	p.D229fs		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	229					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTGACTTTGTCCAGCATATTT	0.428																																					p.D229fs		.											.	PGK2-91	0			c.685delG						.						163	149	154					6																	49754216		2203	4300	6503	SO:0001589	frameshift_variant	5232	exon1			CTTTGTCCAGCAT	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.685delG	6.37:g.49754216delC	ENSP00000305995:p.Asp229fs	Somatic	322	2		WXS	Illumina GAIIx	Phase_I	289	86	NM_138733	0	0	0	0	0	B2R6Y8|Q9H107	Frame_Shift_Del	DEL	ENST00000304801.3	37	CCDS4930.1																																																																																			.		0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			-	49754216	C	-	49754216	7	5	31	1	0	1	0	1	0	0	0	0	11830	855	30	0	572	0	PGK2	6	49754216	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	52654	49754216	121360851	941	6493											
PGK2	5232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49754711	49754711	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacaccatcaggccgacctaGatgactcataagaactactg	7	12	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49754711G>C	ENST00000304801.3	-	1	342	c.190C>G	c.(190-192)Cta>Gta	p.L64V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	64	Substrate binding. {ECO:0000250}.				glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGCCGACCTAGATGACTCATA	0.478																																					p.L64V		.											.	PGK2-91	0			c.C190G						.						201	168	179					6																	49754711		2203	4300	6503	SO:0001583	missense	5232	exon1			GACCTAGATGACT	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.190C>G	6.37:g.49754711G>C	ENSP00000305995:p.Leu64Val	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	182	61	NM_138733	0	0	0	0	0	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336417	0.41398	.	.	ENSG00000170950	ENST00000304801	D	0.93604	-3.25	4.09	2.16	0.27623	Phosphoglycerate kinase, N-terminal (1);	0.069251	0.64402	D	0.000014	D	0.94925	0.8359	H	0.96691	3.865	0.48511	D	0.999669	P	0.37233	0.588	P	0.48524	0.58	D	0.93813	0.7112	10	0.72032	D	0.01	-9.8891	6.1017	0.20051	0.3337:0.0:0.6663:0.0	.	64	P07205	PGK2_HUMAN	V	64	ENSP00000305995:L64V	ENSP00000305995:L64V	L	-	1	2	PGK2	49862670	0.998000	0.40836	0.434000	0.26772	0.973000	0.67179	1.150000	0.31639	0.587000	0.29643	0.585000	0.79938	CTA	.		0.478	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			C	49754711	G	C	49754711	3	2	31	1	0	0	0	0	1	0	0	0	11830	933	33	3	1067	3	PGK2	6	49754711	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	495	49754711	121360356	942	6494											
DEFB113	245927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49936521	49936521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattccggcttgcaagcacCacgaacaagctgacattctc	8	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49936521C>A	ENST00000398718.1	-	2	117	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.G40S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTGCAAGCACCACGAACAAGC	0.393																																					p.G40C		.											.	DEFB113-90	1	Substitution - Missense(1)	lung(1)	c.G118T						.						110	106	107					6																	49936521		1882	4109	5991	SO:0001583	missense	245927	exon2			AAGCACCACGAAC	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"Defensins, beta"	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.118G>T	6.37:g.49936521C>A	ENSP00000381703:p.Gly40Cys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	77	28	NM_001037729	0	0	0	0	0		Missense_Mutation	SNP	ENST00000398718.1	37	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653976	0.29425	.	.	ENSG00000214642	ENST00000398718	T	0.63417	-0.04	4.15	4.15	0.48705	.	.	.	.	.	T	0.68155	0.2970	.	.	.	0.18873	N	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.58053	-0.7704	7	.	.	.	-19.0458	12.1414	0.54000	0.0:1.0:0.0:0.0	.	40	Q30KQ7	DB113_HUMAN	C	40	ENSP00000381703:G40C	.	G	-	1	0	DEFB113	50044480	0.569000	0.26643	0.168000	0.22838	0.017000	0.09413	2.857000	0.48349	2.324000	0.78689	0.557000	0.71058	GGT	.		0.393	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1			A	49936521	C	A	49936521	3	1	31	1	0	0	0	0	1	0	0	0	4415	594	21	3	126	3	DEFB113	6	49936521	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	181810	49936521	121178546	943	6495											
PKHD1	5314	ucsc.edu;bcgsc.ca	37	chr6	51774097	51774097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctcatagctcccacCagagtgagtgagctcagatg	9	12	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51774097C>A	ENST00000371117.3	-	40	6941	c.6666G>T	c.(6664-6666)ctG>ctT	p.L2222L	PKHD1_ENST00000340994.4_Silent_p.L2222L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2222					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)					TAGCTCCCACCAGAGTGAGTG	0.502																																					p.L2222L		.											.	PKHD1-603	0			c.G6666T						.						130	122	125					6																	51774097		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon40			TCCCACCAGAGTG	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.6666G>T	6.37:g.51774097C>A		Somatic	161	2		WXS	Illumina GAIIx	Phase_I	160	50	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51774097	C	A	51774097	2	1	31	1	0	0	0	0	0	0	0	1	12010	581	21	3		3	PKHD1	6	51774097	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1837576	51774097	119340970	944	6496											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51907711	51907711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtctaggtttcacatttaGgaagaggtcttctccagtgg	11	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51907711G>T	ENST00000371117.3	-	27	3318	c.3043C>A	c.(3043-3045)Cta>Ata	p.L1015I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1015I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1015	IPT/TIG 4.				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)					TTCACATTTAGGAAGAGGTCT	0.498																																					p.L1015I		.											.	PKHD1-603	0			c.C3043A						.						100	96	98					6																	51907711		2203	4300	6503	SO:0001583	missense	5314	exon27			CATTTAGGAAGAG	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.3043C>A	6.37:g.51907711G>T	ENSP00000360158:p.Leu1015Ile	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	111	31	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283403	0.40394	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87809	-2.1;-2.3	5.98	0.466	0.16716	Immunoglobulin-like fold (1);	0.093398	0.46145	D	0.000309	D	0.84192	0.5418	M	0.73598	2.24	0.24048	N	0.996052	D;D	0.69078	0.992;0.997	P;P	0.57548	0.817;0.823	T	0.78125	-0.2326	10	0.29301	T	0.29	.	10.4523	0.44528	0.3496:0.0:0.6504:0.0	.	1015;1015	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1015	ENSP00000360158:L1015I;ENSP00000341097:L1015I	ENSP00000341097:L1015I	L	-	1	2	PKHD1	52015670	1.000000	0.71417	0.553000	0.28255	0.092000	0.18411	1.080000	0.30779	0.099000	0.17552	-0.142000	0.14014	CTA	.		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51907711	G	T	51907711	3	4	31	1	0	0	0	0	1	0	0	0	12010	991	35	3	9384	3	PKHD1	6	51907711	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	133614	51907711	119207356	945	6497											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51907765	51907765	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagagggtctcaccaacaTcaagatccgatgcattccaa	7	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51907765T>A	ENST00000371117.3	-	27	3264	c.2989A>T	c.(2989-2991)Atg>Ttg	p.M997L	PKHD1_ENST00000340994.4_Missense_Mutation_p.M997L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	997	IPT/TIG 4.		M -> K (in ARPKD). {ECO:0000269|PubMed:12506140}.		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)					CTCACCAACATCAAGATCCGA	0.463																																					p.M997L		.											.	PKHD1-603	0			c.A2989T						.						120	114	116					6																	51907765		2203	4299	6502	SO:0001583	missense	5314	exon27			CCAACATCAAGAT	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.2989A>T	6.37:g.51907765T>A	ENSP00000360158:p.Met997Leu	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	155	63	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431415	0.12045	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.72725	-0.68;-0.68	5.98	-3.8	0.04307	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.493294	0.23487	N	0.047643	T	0.33731	0.0873	L	0.42245	1.32	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.10450	0.003;0.005	T	0.38394	-0.9663	10	0.28530	T	0.3	.	8.5265	0.33309	0.1158:0.5102:0.0:0.3741	.	997;997	P08F94-2;P08F94	.;PKHD1_HUMAN	L	997	ENSP00000360158:M997L;ENSP00000341097:M997L	ENSP00000341097:M997L	M	-	1	0	PKHD1	52015724	0.000000	0.05858	0.005000	0.12908	0.803000	0.45373	-0.850000	0.04317	-0.664000	0.05324	0.529000	0.55759	ATG	.		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51907765	T	A	51907765	3	1	31	1	0	0	0	0	1	0	0	0	12010	1435	50	5	9438	5	PKHD1	6	51907765	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	54	51907765	119207302	946	6498											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51908447	51908447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaccacacagaatggaCacagggagttgacccttgga	13	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51908447C>A	ENST00000371117.3	-	26	3072	c.2797G>T	c.(2797-2799)Gtc>Ttc	p.V933F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V933F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	933	IPT/TIG 4.				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)					ACAGAATGGACACAGGGAGTT	0.483																																					p.V933F		.											.	PKHD1-603	0			c.G2797T						.						128	109	115					6																	51908447		2203	4300	6503	SO:0001583	missense	5314	exon26			AATGGACACAGGG	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.2797G>T	6.37:g.51908447C>A	ENSP00000360158:p.Val933Phe	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	110	41	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035854	0.93630	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91740	-2.9;-2.9	6.14	3.34	0.38264	Immunoglobulin E-set (1);	0.322303	0.29861	N	0.011004	D	0.91794	0.7404	M	0.72894	2.215	0.09310	N	0.999999	D;D	0.61697	0.99;0.99	P;D	0.63381	0.905;0.914	D	0.86382	0.1730	10	0.87932	D	0	.	9.7013	0.40189	0.0:0.767:0.0:0.233	.	933;933	P08F94-2;P08F94	.;PKHD1_HUMAN	F	933	ENSP00000360158:V933F;ENSP00000341097:V933F	ENSP00000341097:V933F	V	-	1	0	PKHD1	52016406	0.487000	0.25988	0.005000	0.12908	0.970000	0.65996	0.806000	0.27126	0.438000	0.26450	0.650000	0.86243	GTC	.		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51908447	C	A	51908447	3	1	31	1	0	0	0	0	1	0	0	0	12010	478	17	3	9634	3	PKHD1	6	51908447	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	682	51908447	119206620	947	6499											
MCM3	4172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	52141266	52141266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcccctgcttccagacGgcgctctcctgggaagtgag	13	14	1	2	rs144158830		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:52141266G>A	ENST00000229854.7	-	9	1250	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.R437C|MCM3_ENST00000419835.2_Missense_Mutation_p.R346C			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	392	MCM.				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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTTCCAGACGGCGCTCTCCT	0.502													G|||	1	0.000199681	0	0	5008	,	,		22026	0		0.001	False		,,,				2504	0				p.R437C		.											.	MCM3-228	0			c.C1309T						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	45	46		1174	5	1	6	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense	MCM3	NM_002388.3	180	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	392/809	52141266	8,12998	2203	4300	6503	SO:0001583	missense	4172	exon9			CCAGACGGCGCTC	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1174C>T	6.37:g.52141266G>A	ENSP00000229854:p.Arg392Cys	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	127	54	NM_002388	0	0	0	0	0	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.11	2.140426	0.37825	2.27E-4	8.14E-4	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06371	3.31;3.31	5.04	5.04	0.67666	ATPase, AAA+ type, core (1);	0.048736	0.85682	D	0.000000	T	0.05868	0.0153	M	0.79123	2.44	0.80722	D	1	B;B	0.26602	0.148;0.154	B;B	0.33454	0.15;0.164	T	0.03630	-1.1018	10	0.72032	D	0.01	-0.6195	8.0548	0.30598	0.0799:0.0:0.7608:0.1593	.	346;392	B4DUQ9;P25205	.;MCM3_HUMAN	C	392;346	ENSP00000229854:R392C;ENSP00000388647:R346C	ENSP00000229854:R392C	R	-	1	0	MCM3	52249225	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	4.451000	0.60047	2.618000	0.88619	0.655000	0.94253	CGT	G|0.999;A|0.001		0.502	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			A	52141266	G	A	52141266	3	1	31	1	0	0	0	0	1	0	0	0	9425	1116	39	1	1288	1	MCM3	6	52141266	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	232819	52141266	118973801	948	6500											
GCLC	2729	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	53409375	53409375	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactggaggatcccgtgccgCcgcacgtggtcggcatggcg	16	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:53409375C>A	ENST00000229416.6	-	1	552	c.69G>T	c.(67-69)cgG>cgT	p.R23R	GCLC_ENST00000514004.1_Silent_p.R23R	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	23					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TCCCGTGCCGCCGCACGTGGT	0.692																																					p.R23R		.											.	GCLC-515	0			c.G69T						.						74	58	64					6																	53409375		2203	4300	6503	SO:0001819	synonymous_variant	2729	exon1			GTGCCGCCGCACG	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.69G>T	6.37:g.53409375C>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	114	41	NM_001197115	0	0	0	0	0	Q14399	Silent	SNP	ENST00000229416.6	37	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108908	0.37242	.	.	ENSG00000001084	ENST00000513939	.	.	.	4.71	3.78	0.43462	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61019	-0.7147	4	.	.	.	.	14.7716	0.69684	0.0:0.7592:0.2407:0.0	.	.	.	.	V	11	.	.	G	-	2	0	GCLC	53517334	0.998000	0.40836	1.000000	0.80357	0.800000	0.45204	0.415000	0.21181	2.318000	0.78349	0.313000	0.20887	GGC	.		0.692	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			A	53409375	C	A	53409375	2	1	31	1	0	0	0	0	0	0	0	1	6320	726	26	3		3	GCLC	6	53409375	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1268109	53409375	117705692	949	6501											
FAM83B	222584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	54791229	54791229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagaaatcgttgagGcatcaactcgaggagtatct	9	7	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:54791229G>T	ENST00000306858.7	+	3	621	c.505G>T	c.(505-507)Gca>Tca	p.A169S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	169										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCGTTGAGGCATCAACTCG	0.328																																					p.A169S		.											.	FAM83B-96	0			c.G505T						.						113	117	115					6																	54791229		2203	4300	6503	SO:0001583	missense	222584	exon3			GTTGAGGCATCAA	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.505G>T	6.37:g.54791229G>T	ENSP00000304078:p.Ala169Ser	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	66	24	NM_001010872	0	0	0	0	0	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576412	0.86645	.	.	ENSG00000168143	ENST00000306858	T	0.22945	1.93	5.31	4.41	0.53225	.	0.055756	0.64402	N	0.000001	T	0.25568	0.0622	M	0.83774	2.66	0.53005	D	0.999964	P	0.50617	0.937	B	0.43889	0.435	T	0.27262	-1.0079	10	0.66056	D	0.02	-19.1819	14.901	0.70678	0.0:0.0:0.8554:0.1446	.	169	Q5T0W9	FA83B_HUMAN	S	169	ENSP00000304078:A169S	ENSP00000304078:A169S	A	+	1	0	FAM83B	54899188	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.592000	0.82676	1.164000	0.42652	0.563000	0.77884	GCA	.		0.328	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54791229	G	T	54791229	3	4	31	1	0	0	0	0	1	0	0	0	5656	1203	42	3	511	3	FAM83B	6	54791229	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1381854	54791229	116323838	950	6502											
DST	667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56426291	56426291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccttgagtaagaggcCaagatcttcataaccatgac	8	9	2	4	rs369841392		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56426291C>A	ENST00000361203.3	-	53	13499	c.13492G>T	c.(13492-13494)Ggc>Tgc	p.G4498C	DST_ENST00000370769.4_Missense_Mutation_p.G4500C|DST_ENST00000370754.5_Missense_Mutation_p.G4678C|DST_ENST00000421834.2_Missense_Mutation_p.G2412C|DST_ENST00000446842.2_Missense_Mutation_p.G4174C|DST_ENST00000244364.6_Missense_Mutation_p.G2086C|DST_ENST00000370788.2_Missense_Mutation_p.G2412C|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4498					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)			AGTAAGAGGCCAAGATCTTCA	0.378																																					p.G2086C		.											.	DST-523	0			c.G6256T						.						182	161	167					6																	56426291		1883	4102	5985	SO:0001583	missense	667	exon38			AGAGGCCAAGATC	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.13492G>T	6.37:g.56426291C>A	ENSP00000354508:p.Gly4498Cys	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	121	48	NM_015548	0	0	0	0	0	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	17.34	3.363933	0.61513	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000065	T	0.57169	0.2035	M	0.72894	2.215	0.29271	N	0.870698	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;0.978	T	0.53173	-0.8476	9	0.54805	T	0.06	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2412;4500;4678;4498;2086	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	C	2086;4678;4500;2412;4174;2412;4498	ENSP00000244364:G2086C;ENSP00000359790:G4678C;ENSP00000359805:G4500C;ENSP00000400883:G2412C;ENSP00000393645:G4174C;ENSP00000359824:G2412C;ENSP00000354508:G4498C	ENSP00000244364:G2086C	G	-	1	0	DST	56534250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.707000	0.74654	2.941000	0.99782	0.655000	0.94253	GGC	.		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56426291	C	A	56426291	3	1	31	1	0	0	0	0	1	0	0	0	4797	594	21	3	9447	3	DST	6	56426291	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1635062	56426291	114688776	951	6503											
DST	667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56480710	56480710	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattactaattcacactGtcgcagctgctgggcaaacc	9	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56480710G>A	ENST00000370765.6	-	24	7662	c.7555C>T	c.(7555-7557)Cag>Tag	p.Q2519*	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1815					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)			AATTCACACTGTCGCAGCTGC	0.463																																					p.Q2519X		.											.	DST-523	0			c.C7555T						.						82	84	83					6																	56480710		2203	4300	6503	SO:0001587	stop_gained	667	exon24			CACACTGTCGCAG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7555C>T	6.37:g.56480710G>A	ENSP00000359801:p.Gln2519*	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	153	51	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	47	13.782939	0.99763	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	2519	.	ENSP00000359801:Q2519X	Q	-	1	0	DST	56588669	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.490000	0.97952	2.822000	0.97130	0.557000	0.71058	CAG	.		0.463	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		A	56480710	G	A	56480710	4	1	31	1	0	0	0	0	0	1	0	0	4797	1386	48	3	12844	3	DST	6	56480710	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	54419	56480710	114634357	952	6504											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	56495106	56495106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataactgcttcttcttcacaCagtttagtttcatagagttt	5	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56495106C>A	ENST00000361203.3	-	27	3592	c.3585G>T	c.(3583-3585)ctG>ctT	p.L1195L	DST_ENST00000518935.1_Silent_p.L869L|DST_ENST00000370769.4_Silent_p.L1195L|DST_ENST00000370754.5_Silent_p.L1373L|DST_ENST00000421834.2_Silent_p.L1195L|DST_ENST00000446842.2_Silent_p.L869L|DST_ENST00000244364.6_Silent_p.L869L|DST_ENST00000370788.2_Silent_p.L1195L|DST_ENST00000312431.6_Silent_p.L1195L|DST_ENST00000370765.6_Silent_p.L869L			Q03001	DYST_HUMAN	dystonin	1195					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)			CTTCTTCACACAGTTTAGTTT	0.308																																					p.L869L		.											.	DST-523	0			c.G2607T						.						86	86	86					6																	56495106		2202	4298	6500	SO:0001819	synonymous_variant	667	exon17			TTCACACAGTTTA	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.3585G>T	6.37:g.56495106C>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	59	10	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																				.		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56495106	C	A	56495106	2	1	31	1	0	0	0	0	0	0	0	1	4797	465	17	3		3	DST	6	56495106	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	14396	56495106	114619961	953	6505											
KHDRBS2	202559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	62407105	62407105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaggtcttaccgtagCtgtcataggcatcctcactt	8	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:62407105C>A	ENST00000281156.4	-	8	1225	c.947G>T	c.(946-948)aGc>aTc	p.S316I		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTACCGTAGCTGTCATAGGC	0.383																																					p.S316I		.											.	KHDRBS2-272	0			c.G947T						.						127	104	112					6																	62407105		2203	4300	6503	SO:0001583	missense	202559	exon8			CCGTAGCTGTCAT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.947G>T	6.37:g.62407105C>A	ENSP00000281156:p.Ser316Ile	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	114	32	NM_152688	0	0	0	0	0	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952448	0.73787	.	.	ENSG00000112232	ENST00000281156	T	0.53206	0.63	5.37	4.36	0.52297	.	0.333726	0.36854	N	0.002376	T	0.45296	0.1335	L	0.59436	1.845	0.38468	D	0.947388	D	0.56968	0.978	P	0.56216	0.794	T	0.52866	-0.8518	10	0.87932	D	0	-2.9369	10.4167	0.44327	0.0:0.888:0.0:0.112	.	316	Q5VWX1	KHDR2_HUMAN	I	316	ENSP00000281156:S316I	ENSP00000281156:S316I	S	-	2	0	KHDRBS2	62465064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.782000	0.47758	1.145000	0.42336	0.650000	0.86243	AGC	.		0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62407105	C	A	62407105	3	1	31	1	0	0	0	0	1	0	0	0	8174	797	28	3	110	3	KHDRBS2	6	62407105	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5911999	62407105	108707962	954	6506											
EYS	346007	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	65300987	65300987	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcataccagctggctaatatCgctgagttcatccagaatgt	9	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:65300987C>A	ENST00000370621.3	-	26	5299	c.4773G>T	c.(4771-4773)gcG>gcT	p.A1591A	EYS_ENST00000503581.1_Silent_p.A1591A|EYS_ENST00000370616.2_Silent_p.A1591A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1591					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						TGGCTAATATCGCTGAGTTCA	0.403																																					p.A1591A		.											.	EYS-660	0			c.G4773T						.						25	22	23					6																	65300987		692	1590	2282	SO:0001819	synonymous_variant	346007	exon26			TAATATCGCTGAG		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.4773G>T	6.37:g.65300987C>A		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	91	27	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				.		0.403	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65300987	C	A	65300987	2	1	31	1	0	0	0	0	0	0	0	1	5348	871	31	2		2	EYS	6	65300987	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2893882	65300987	105814080	955	6507											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	65655797	65655797	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccaatcagataggcacacaCactggtagctctaagagaat	8	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:65655797C>G	ENST00000370621.3	-	15	2796	c.2270G>C	c.(2269-2271)tGt>tCt	p.C757S	EYS_ENST00000503581.1_Missense_Mutation_p.C757S|EYS_ENST00000370616.2_Missense_Mutation_p.C757S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	757	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAGGCACACACACTGGTAGCT	0.338																																					p.C757S		.											.	EYS-660	0			c.G2270C						.						164	134	143					6																	65655797		692	1591	2283	SO:0001583	missense	346007	exon15			CACACACACTGGT		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.2270G>C	6.37:g.65655797C>G	ENSP00000359655:p.Cys757Ser	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	52	16	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	7.835	0.720758	0.15372	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.96232	-3.95;-2.63;-2.63	4.7	2.88	0.33553	.	.	.	.	.	D	0.98102	0.9374	H	0.98199	4.17	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.97011	0.9736	9	0.87932	D	0	.	6.9521	0.24550	0.1717:0.736:0.0:0.0923	.	757	Q5T1H1-1	.	S	757	ENSP00000424243:C757S;ENSP00000359655:C757S;ENSP00000359650:C757S	ENSP00000359650:C757S	C	-	2	0	EYS	65712518	0.850000	0.29656	0.054000	0.19295	0.155000	0.21991	1.307000	0.33516	0.387000	0.25024	0.561000	0.74099	TGT	.		0.338	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	65655797	C	G	65655797	3	3	31	1	0	0	0	0	1	0	0	0	5348	478	17	3	7125	3	EYS	6	65655797	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	354810	65655797	105459270	956	6508											
EYS	346007	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	66053984	66053984	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaattattatcttcaggatCgttcacataggttgcatctt	7	7	4	1	rs577044383		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:66053984C>G	ENST00000370621.3	-	10	2072	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	EYS_ENST00000342421.5_Missense_Mutation_p.D516H|EYS_ENST00000393380.2_Missense_Mutation_p.D516H|EYS_ENST00000503581.1_Missense_Mutation_p.D516H|EYS_ENST00000370618.3_Missense_Mutation_p.D516H|EYS_ENST00000370616.2_Missense_Mutation_p.D516H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					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						TCTTCAGGATCGTTCACATAG	0.373																																					p.D516H		.											.	EYS-660	0			c.G1546C						.						97	97	97					6																	66053984		2203	4300	6503	SO:0001583	missense	346007	exon10			CAGGATCGTTCAC		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.1546G>C	6.37:g.66053984C>G	ENSP00000359655:p.Asp516His	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	185	64	NM_001142801	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	c	4.554	0.102919	0.08731	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	3.85	1.42	0.22433	.	.	.	.	.	T	0.45696	0.1355	L	0.27053	0.805	0.09310	N	1	B;B;B	0.26002	0.139;0.139;0.086	B;B;B	0.26770	0.073;0.073;0.054	T	0.33904	-0.9850	9	0.13470	T	0.59	.	3.984	0.09507	0.0:0.1249:0.2398:0.6353	.	516;516;516	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	516	ENSP00000424243:D516H;ENSP00000359655:D516H;ENSP00000359650:D516H;ENSP00000377042:D516H;ENSP00000341818:D516H;ENSP00000359652:D516H	ENSP00000341818:D516H	D	-	1	0	EYS	66110705	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.003000	0.14656	-0.312000	0.09012	GAT	.		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66053984	C	G	66053984	3	3	31	1	0	0	0	0	1	0	0	0	5348	884	31	2	7986	2	EYS	6	66053984	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	398187	66053984	105061083	957	6509											
BAI3	577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	69943298	69943298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccattttggctcagcaacCtagagaaatagtaagtaaca	8	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:69943298C>A	ENST00000370598.1	+	18	3418	c.2597C>A	c.(2596-2598)cCt>cAt	p.P866H	BAI3_ENST00000238918.8_Missense_Mutation_p.P72H	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	866	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)				GCTCAGCAACCTAGAGAAATA	0.448																																					p.P866H		.											.	BAI3-1148	0			c.C2597A						.						145	132	136					6																	69943298		2203	4300	6503	SO:0001583	missense	577	exon18			AGCAACCTAGAGA	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.2597C>A	6.37:g.69943298C>A	ENSP00000359630:p.Pro866His	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	158	49	NM_001704	0	0	0	0	0	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538714	0.65085	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.22336	1.96;2.57	5.37	5.37	0.77165	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.936;0.956	T	0.02417	-1.1162	10	0.44086	T	0.13	.	19.1872	0.93648	0.0:1.0:0.0:0.0	.	72;866	B7Z356;O60242	.;BAI3_HUMAN	H	866;72	ENSP00000359630:P866H;ENSP00000238918:P72H	ENSP00000238918:P72H	P	+	2	0	BAI3	70000019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.539000	0.85634	0.454000	0.30748	CCT	.		0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69943298	C	A	69943298	3	1	31	1	0	0	0	0	1	0	0	0	1301	681	24	3	2659	3	BAI3	6	69943298	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3889314	69943298	101171769	958	6510											
COL19A1	1310	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	70639346	70639346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagttgatggtggaaagaaGgtggtggaatttatgtttca	15	1	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:70639346G>T	ENST00000322773.4	+	6	522	c.420G>T	c.(418-420)aaG>aaT	p.K140N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	140	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGGAAAGAAGGTGGTGGAAT	0.333																																					p.K140N		.											.	COL19A1-156	0			c.G420T						.						87	87	87					6																	70639346		2203	4300	6503	SO:0001583	missense	1310	exon6			AAAGAAGGTGGTG		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.420G>T	6.37:g.70639346G>T	ENSP00000316030:p.Lys140Asn	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	116	45	NM_001858	0	0	0	0	0	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483336	0.26598	.	.	ENSG00000082293	ENST00000322773	T	0.24538	1.85	5.2	3.42	0.39159	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.30387	-0.9980	10	0.87932	D	0	.	9.0231	0.36213	0.2262:0.0:0.7738:0.0	.	140	Q14993	COJA1_HUMAN	N	140	ENSP00000316030:K140N	ENSP00000316030:K140N	K	+	3	2	COL19A1	70696067	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.729000	0.26028	0.586000	0.29626	0.467000	0.42956	AAG	.		0.333	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70639346	G	T	70639346	3	4	31	1	0	0	0	0	1	0	0	0	3683	991	35	3	438	3	COL19A1	6	70639346	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	696048	70639346	100475721	959	6511											
COL9A1	1297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	70981789	70981789	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggtccaggaataccacgGccctaaaagagtacaataaa	11	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:70981789G>T	ENST00000357250.6	-	13	1226	c.1068C>A	c.(1066-1068)ggC>ggA	p.G356G	COL9A1_ENST00000320755.7_Silent_p.G113G|COL9A1_ENST00000370499.4_Intron|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	356	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAATACCACGGCCCTAAAAGA	0.328																																					p.G356G		.											.	COL9A1-94	0			c.C1068A						.						44	47	46					6																	70981789		2202	4300	6502	SO:0001819	synonymous_variant	1297	exon13			ACCACGGCCCTAA		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.1068C>A	6.37:g.70981789G>T		Somatic	169	2		WXS	Illumina GAIIx	Phase_I	160	40	NM_001851	0	0	0	0	0	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	CCDS4971.1																																																																																			.		0.328	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	70981789	G	T	70981789	2	4	31	1	0	0	0	0	0	0	0	1	3714	1190	42	3		3	COL9A1	6	70981789	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	342443	70981789	100133278	960	6512											
B3GAT2	135152	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	71665781	71665781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcgctgcgcgccgccgcgtCctccaccaggatccagtgca	11	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:71665781C>A	ENST00000230053.6	-	1	960	c.352G>T	c.(352-354)Gac>Tac	p.D118Y		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	118					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCGCCGCGTCCTCCACCAGG	0.731																																					p.D118Y		.											.	B3GAT2-93	0			c.G352T						.						15	16	16					6																	71665781		2193	4288	6481	SO:0001583	missense	135152	exon1			CCGCGTCCTCCAC	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.352G>T	6.37:g.71665781C>A	ENSP00000230053:p.Asp118Tyr	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	99	34	NM_080742	0	0	0	0	0	Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713216	0.68730	.	.	ENSG00000112309	ENST00000230053	T	0.69306	-0.39	4.37	2.53	0.30540	.	0.100743	0.64402	D	0.000002	T	0.81578	0.4852	M	0.93328	3.405	0.80722	D	1	P;D	0.89917	0.594;1.0	B;D	0.97110	0.259;1.0	D	0.86068	0.1536	10	0.72032	D	0.01	-30.0278	13.8264	0.63352	0.0:0.7066:0.2934:0.0	.	118;118	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	Y	118	ENSP00000230053:D118Y	ENSP00000230053:D118Y	D	-	1	0	B3GAT2	71722502	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.477000	0.81069	0.443000	0.26582	-0.182000	0.12963	GAC	.		0.731	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		A	71665781	C	A	71665781	3	1	31	1	0	0	0	0	1	0	0	0	1255	855	30	3	635	3	B3GAT2	6	71665781	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	683992	71665781	99449286	961	6513											
KCNQ5	56479	hgsc.bcm.edu	37	chr6	73332040	73332040	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgaaggatgtggagtcCggccggggcagggtgctgct	20	8	0	1	rs3734212	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S|KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S|KCNQ5_ENST00000403813.2_Silent_p.S41S|KCNQ5_ENST00000414165.2_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					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)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2	3	3		123,123,123,123,123	-2.2	1	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	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.123C>G	6.37:g.73332040C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		G	73332040	C	G	73332040	2	3	31	1	0	0	0	0	0	0	0	1	8113	639	23	2		2	KCNQ5	6	73332040	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1666259	73332040	97783027	962	6514											
C6orf221	154288	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	74072990	74072990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactatcaccgccagctccaGgcgaaaggtacggggctggg	15	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:74072990G>T	ENST00000370367.3	+	2	395	c.342G>T	c.(340-342)caG>caT	p.Q114H		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	114							RNA binding (GO:0003723)										GCCAGCTCCAGGCGAAAGGTA	0.587																																					p.Q114H		.											.	.	0			c.G342T						.						67	67	67					6																	74072990		2203	4300	6503	SO:0001583	missense	154288	exon2			GCTCCAGGCGAAA	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.342G>T	6.37:g.74072990G>T	ENSP00000359392:p.Gln114His	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	180	63	NM_001017361	0	0	0	0	0	B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960713	0.34565	.	.	ENSG00000203908	ENST00000370367	T	0.47528	0.84	3.42	0.409	0.16382	.	1.276940	0.05769	N	0.606398	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	D	0.55605	0.972	P	0.52217	0.693	T	0.14476	-1.0471	10	0.41790	T	0.15	-3.8907	6.4978	0.22152	0.0:0.3856:0.4166:0.1978	.	114	Q587J8	ECAT1_HUMAN	H	114	ENSP00000359392:Q114H	ENSP00000359392:Q114H	Q	+	3	2	C6orf221	74129711	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	0.574000	0.23714	0.071000	0.16664	-0.182000	0.12963	CAG	.		0.587	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		T	74072990	G	T	74072990	3	4	31	1	0	0	0	0	1	0	0	0	2362	991	35	3	348	3	C6orf221	6	74072990	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	740950	74072990	97042077	963	6515											
COL12A1	1303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	75814965	75814965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaacgctgtcctgtgtaCatgtgcaagaatttggaaaa	10	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:75814965C>A	ENST00000322507.8	-	54	8531	c.8222G>T	c.(8221-8223)tGt>tTt	p.C2741F	COL12A1_ENST00000345356.6_Missense_Mutation_p.C1577F|COL12A1_ENST00000483888.2_Missense_Mutation_p.C2741F|COL12A1_ENST00000416123.2_Missense_Mutation_p.C2665F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2741	Nonhelical region (NC3).				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						GTCCTGTGTACATGTGCAAGA	0.383																																					p.C2741F		.											.	COL12A1-142	0			c.G8222T						.						64	80	75					6																	75814965		1869	4117	5986	SO:0001583	missense	1303	exon54			TGTGTACATGTGC	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.8222G>T	6.37:g.75814965C>A	ENSP00000325146:p.Cys2741Phe	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	176	60	NM_004370	0	0	0	0	0	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481731	0.63849	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96855	0.9628	10	0.87932	D	0	.	19.6611	0.95871	0.0:1.0:0.0:0.0	.	1577;2741	Q99715-2;Q99715	.;COCA1_HUMAN	F	2741;379;2665;1577;2665;2741	ENSP00000325146:C2741F;ENSP00000399812:C379F;ENSP00000305147:C1577F;ENSP00000412864:C2665F;ENSP00000421216:C2741F	ENSP00000325146:C2741F	C	-	2	0	COL12A1	75871685	1.000000	0.71417	0.569000	0.28460	0.428000	0.31595	7.152000	0.77419	2.643000	0.89663	0.655000	0.94253	TGT	.		0.383	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75814965	C	A	75814965	3	1	31	1	0	0	0	0	1	0	0	0	3676	478	17	3	1021	3	COL12A1	6	75814965	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1741975	75814965	95300102	964	6516											
TTK	7272	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	80744821	80744821	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagcttatttgaataaactAcaacaacacagtgataagat	5	6	0	3	rs376304038		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:80744821A>G	ENST00000369798.2	+	15	1845	c.1734A>G	c.(1732-1734)ctA>ctG	p.L578L	TTK_ENST00000230510.3_Silent_p.L577L|TTK_ENST00000509894.1_Silent_p.L577L	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	578	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATAAACTACAACAACACA	0.269																																					p.L578L		.											.	TTK-1299	0			c.A1734G						.	A	,	0,4398		0,0,2199	78	83	81		1731,1734	1.7	1	6		81	1,8573	1.2+/-3.3	0,1,4286	no	coding-synonymous,coding-synonymous	TTK	NM_001166691.1,NM_003318.4	,	0,1,6485	GG,GA,AA		0.0117,0.0,0.0077	,	577/857,578/858	80744821	1,12971	2199	4287	6486	SO:0001819	synonymous_variant	7272	exon15			TAAACTACAACAA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1734A>G	6.37:g.80744821A>G		Somatic	207	1		WXS	Illumina GAIIx	Phase_I	172	73	NM_003318	0	0	0	0	0	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	CCDS4993.1																																																																																			.		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			G	80744821	A	G	80744821	2	3	31	1	0	0	0	0	0	0	0	1	16769	378	14	4		4	TTK	6	80744821	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4929856	80744821	90370246	965	6517											
SNAP91	9892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	84290239	84290239	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgccattgcaggactGggtggtaccattgagacagg	15	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:84290239G>T	ENST00000439399.2	-	24	2545	c.2229C>A	c.(2227-2229)ccC>ccA	p.P743P	SNAP91_ENST00000520213.1_Silent_p.P436P|SNAP91_ENST00000195649.6_Silent_p.P738P|SNAP91_ENST00000437520.1_Silent_p.P436P|SNAP91_ENST00000520302.1_Silent_p.P713P|SNAP91_ENST00000521485.1_Silent_p.P738P|SNAP91_ENST00000428679.2_Silent_p.P743P|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000369694.2_Silent_p.P743P|SNAP91_ENST00000521743.1_Silent_p.P743P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	743					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGCAGGACTGGGTGGTACCA	0.458																																					p.P743P		.											.	SNAP91-23	0			c.C2229A						.						98	103	102					6																	84290239		1986	4160	6146	SO:0001819	synonymous_variant	9892	exon23			AGGACTGGGTGGT	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2229C>A	6.37:g.84290239G>T		Somatic	262	0		WXS	Illumina GAIIx	Phase_I	240	97	NM_001242792	0	0	0	0	0	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																			.		0.458	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84290239	G	T	84290239	2	4	31	1	0	0	0	0	0	0	0	1	14878	1335	47	3		3	SNAP91	6	84290239	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3545418	84290239	86824828	966	6518											
TBX18	9096	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	85446831	85446831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacccatggacatgttcaCggaggtgctgctgctcacgc	12	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:85446831C>A	ENST00000369663.5	-	8	1733	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	466					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GACATGTTCACGGAGGTGCTG	0.577																																					p.V466L		.											.	TBX18-73	0			c.G1396T						.						109	104	106					6																	85446831		2203	4300	6503	SO:0001583	missense	9096	exon8			TGTTCACGGAGGT	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1396G>T	6.37:g.85446831C>A	ENSP00000358677:p.Val466Leu	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	161	58	NM_001080508	0	0	0	0	0	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	0.640	-0.813912	0.02798	.	.	ENSG00000112837	ENST00000369663	D	0.86030	-2.06	5.48	3.7	0.42460	.	0.388123	0.28865	N	0.013891	T	0.53367	0.1792	N	0.14661	0.345	0.35733	D	0.818057	B	0.26602	0.154	B	0.24541	0.054	T	0.40040	-0.9584	10	0.19590	T	0.45	.	9.0739	0.36508	0.0:0.7771:0.0:0.2229	.	466	O95935	TBX18_HUMAN	L	466	ENSP00000358677:V466L	ENSP00000358677:V466L	V	-	1	0	TBX18	85503550	0.980000	0.34600	0.934000	0.37439	0.665000	0.39181	2.456000	0.44997	0.688000	0.31529	0.585000	0.79938	GTG	.		0.577	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		A	85446831	C	A	85446831	3	1	31	1	0	0	0	0	1	0	0	0	15700	536	19	2	431	2	TBX18	6	85446831	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1156592	85446831	85668236	967	6519											
HTR1E	3354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	87725124	87725124	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accatcactgagaagatgctCatttgcatgactctggtggt	10	9	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:87725124C>G	ENST00000305344.5	+	2	775	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	24					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAAGATGCTCATTTGCATGA	0.502																																					p.L24L		.											.	HTR1E-93	0			c.C72G						.						156	126	136					6																	87725124		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			GATGCTCATTTGC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.72C>G	6.37:g.87725124C>G		Somatic	300	0		WXS	Illumina GAIIx	Phase_I	339	132	NM_000865	0	0	0	0	0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																			.		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		G	87725124	C	G	87725124	2	3	31	1	0	0	0	0	0	0	0	1	7466	813	29	3		3	HTR1E	6	87725124	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2278293	87725124	83389943	968	6520											
RARS2	57038	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	88279286	88279286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatcaagttttctggtGgaagattcaacactctggaa	10	6	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:88279286G>A	ENST00000369536.5	-	2	104	c.59C>T	c.(58-60)cCa>cTa	p.P20L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	20					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTTTTCTGGTGGAAGATTCAA	0.313																																					p.P20L		.											.	RARS2-92	0			c.C59T						.						110	113	112					6																	88279286		2203	4300	6503	SO:0001583	missense	57038	exon2			TCTGGTGGAAGAT	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.59C>T	6.37:g.88279286G>A	ENSP00000358549:p.Pro20Leu	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	79	11	NM_020320	0	0	0	0	0	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103933	0.56291	.	.	ENSG00000146282	ENST00000369536;ENST00000451155	T	0.72835	-0.69	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.218457	0.48767	D	0.000169	T	0.53351	0.1791	M	0.66939	2.045	0.58432	D	0.999991	B	0.31910	0.346	B	0.30251	0.113	T	0.54840	-0.8233	10	0.16420	T	0.52	.	14.3856	0.66942	0.0:0.0:1.0:0.0	.	20	Q5T160	SYRM_HUMAN	L	20;8	ENSP00000358549:P20L	ENSP00000358549:P20L	P	-	2	0	RARS2	88336005	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.296000	0.65698	2.539000	0.85634	0.650000	0.86243	CCA	.		0.313	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		A	88279286	G	A	88279286	3	1	31	1	0	0	0	0	1	0	0	0	13104	1348	47	3	1753	3	RARS2	6	88279286	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	554162	88279286	82835781	969	6521											
SFRS13B	135295	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	89827555	89827555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttcacctggtggcgtccgCgacgttcctgatgaacaggg	14	12	1	2	rs372794091		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:89827555C>A	ENST00000452027.2	-	1	245	c.52G>T	c.(52-54)Gcg>Tcg	p.A18S		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	18	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GTGGCGTCCGCGACGTTCCTG	0.736																																					p.A18S		.											.	SRSF12-90	0			c.G52T						.						17	24	22					6																	89827555		1973	4137	6110	SO:0001583	missense	135295	exon1			CGTCCGCGACGTT	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.52G>T	6.37:g.89827555C>A	ENSP00000414302:p.Ala18Ser	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	177	69	NM_080743	0	0	0	0	0	B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989492	0.35131	.	.	ENSG00000154548	ENST00000452027	T	0.32753	1.44	3.71	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.381564	0.17208	U	0.182876	T	0.03695	0.0105	N	0.04162	-0.26	0.27850	N	0.940779	B	0.11235	0.004	B	0.19391	0.025	T	0.42120	-0.9470	10	0.06757	T	0.87	.	8.7122	0.34391	0.0:0.8844:0.0:0.1156	.	18	Q8WXF0	SRS12_HUMAN	S	18	ENSP00000414302:A18S	ENSP00000414302:A18S	A	-	1	0	SRSF12	89884274	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	1.363000	0.34159	1.866000	0.54105	0.484000	0.47621	GCG	.		0.736	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		A	89827555	C	A	89827555	3	1	31	1	0	0	0	0	1	0	0	0	14214	768	27	2	753	2	SFRS13B	6	89827555	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1548269	89827555	81287512	970	6522											
BACH2	60468	ucsc.edu;bcgsc.ca	37	chr6	90660573	90660573	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctcctgtttacagagagCctccaacccaggccccctga	7	18	0	2	rs34335140	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:90660573C>G	ENST00000257749.4	-	7	1959	c.1252G>C	c.(1252-1254)Gct>Cct	p.A418P	BACH2_ENST00000343122.3_Missense_Mutation_p.A418P|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A418P|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	418			A -> T (in dbSNP:rs34335140).			cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTACAGAGAGCCTCCAACCCA	0.592																																					p.A418P		.											.	BACH2-231	0			c.G1252C						.						27	29	28					6																	90660573		2183	4275	6458	SO:0001583	missense	60468	exon7			AGAGAGCCTCCAA	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1252G>C	6.37:g.90660573C>G	ENSP00000257749:p.Ala418Pro	Somatic	112	2		WXS	Illumina GAIIx	Phase_I	94	28	NM_021813	0	0	0	0	0	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792353	0.16258	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38401	1.14;1.14;1.14	5.56	1.12	0.20585	.	0.473071	0.25484	N	0.030354	T	0.05456	0.0144	N	0.08118	0	0.21878	N	0.999492	B	0.27068	0.167	B	0.25759	0.063	T	0.34625	-0.9821	10	0.31617	T	0.26	-12.345	6.1461	0.20287	0.0:0.458:0.2498:0.2922	.	418	Q9BYV9	BACH2_HUMAN	P	418	ENSP00000257749:A418P;ENSP00000437473:A418P;ENSP00000345642:A418P	ENSP00000257749:A418P	A	-	1	0	BACH2	90717294	1.000000	0.71417	0.994000	0.49952	0.599000	0.36880	1.928000	0.40104	0.278000	0.22164	-0.136000	0.14681	GCT	C|0.993;T|0.007		0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		G	90660573	C	G	90660573	3	3	31	1	0	0	0	0	1	0	0	0	1285	739	26	3	1285	3	BACH2	6	90660573	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	833018	90660573	80454494	971	6523											
MAP3K7	6885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	91233443	91233443	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcgagttggcttttcTgaggttggtcctgaggtagt	14	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:91233443T>A	ENST00000369329.3	-	14	1577	c.1416A>T	c.(1414-1416)tcA>tcT	p.S472S	MAP3K7_ENST00000369332.3_Silent_p.S445S|MAP3K7_ENST00000369320.1_Silent_p.S126S|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Silent_p.S445S|MAP3K7_ENST00000369325.3_Silent_p.S472S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	472					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGGCTTTTCTGAGGTTGGTC	0.423																																					p.S472S		.											.	MAP3K7-980	0			c.A1416T						.						169	146	154					6																	91233443		2203	4300	6503	SO:0001819	synonymous_variant	6885	exon14			CTTTTCTGAGGTT	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1416A>T	6.37:g.91233443T>A		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	150	69	NM_145331	0	0	0	0	0	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	CCDS5028.1																																																																																			.		0.423	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91233443	T	A	91233443	2	1	31	1	0	0	0	0	0	0	0	1	9293	1567	55	5		5	MAP3K7	6	91233443	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	572870	91233443	79881624	972	6524											
KIAA0776	23376	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	96999750	96999750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgtctggattctgcaGcagaagcttgtgatattatg	10	6	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:96999750G>T	ENST00000369278.4	+	17	2002	c.1936G>T	c.(1936-1938)Gca>Tca	p.A646S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	646					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GGATTCTGCAGCAGAAGCTTG	0.318																																					p.A646S		.											.	.	0			c.G1936T						.						92	103	100					6																	96999750		2203	4298	6501	SO:0001583	missense	23376	exon17			TCTGCAGCAGAAG	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1936G>T	6.37:g.96999750G>T	ENSP00000358283:p.Ala646Ser	Somatic	217	1		WXS	Illumina GAIIx	Phase_I	196	57	NM_015323	0	0	0	0	0	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296841	0.40594	.	.	ENSG00000014123	ENST00000369278	T	0.52983	0.64	5.08	1.23	0.21249	.	0.325877	0.35772	N	0.002993	T	0.24275	0.0588	M	0.72118	2.19	0.38864	D	0.95655	B	0.27853	0.191	B	0.26770	0.073	T	0.05683	-1.0870	10	0.25106	T	0.35	-1.1067	8.8952	0.35460	0.314:0.0:0.686:0.0	.	646	O94874	UFL1_HUMAN	S	646	ENSP00000358283:A646S	ENSP00000358283:A646S	A	+	1	0	KIAA0776	97106471	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	1.000000	0.29770	0.003000	0.14656	0.655000	0.94253	GCA	.		0.318	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		T	96999750	G	T	96999750	3	4	31	1	0	0	0	0	1	0	0	0	8220	971	34	3	2002	3	KIAA0776	6	96999750	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5766307	96999750	74115317	973	6525											
C6orf167	253714	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	97599708	97599708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacttggcaggcttttaCcatgtattgcaggttctctg	9	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:97599708C>T	ENST00000275053.4	-	23	3686	c.3421G>A	c.(3421-3423)Gta>Ata	p.V1141I	MMS22L_ENST00000369251.2_Missense_Mutation_p.V1101I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1141					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGGCTTTTACCATGTATTGC	0.438																																					p.V1141I		.											.	MMS22L-92	0			c.G3421A						.						177	176	176					6																	97599708		2203	4300	6503	SO:0001583	missense	253714	exon23			CTTTTACCATGTA		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3421G>A	6.37:g.97599708C>T	ENSP00000275053:p.Val1141Ile	Somatic	77	1		WXS	Illumina GAIIx	Phase_I	82	20	NM_198468	0	0	0	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736759	0.49045	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.38240	1.15;1.15	5.44	4.57	0.56435	.	0.190068	0.45361	D	0.000366	T	0.18045	0.0433	L	0.50333	1.59	0.38045	D	0.935582	B;B	0.20671	0.047;0.027	B;B	0.20767	0.031;0.017	T	0.07214	-1.0784	10	0.62326	D	0.03	-6.2833	9.7157	0.40274	0.0:0.7843:0.1422:0.0735	.	1101;1141	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	1141;1101	ENSP00000275053:V1141I;ENSP00000358254:V1101I	ENSP00000275053:V1141I	V	-	1	0	MMS22L	97706429	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.281000	0.44480	0.650000	0.86243	GTA	.		0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		T	97599708	C	T	97599708	3	4	31	1	0	0	0	0	1	0	0	0	2349	507	18	3	322	3	C6orf167	6	97599708	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	599958	97599708	73515359	974	6526											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	31	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1683668	99283376	71831691	975	6527											
PRDM13	59336	broad.mit.edu;bcgsc.ca	37	chr6	100062487	100062487	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctggccagagtctgcTcgccaaagcgggcgacggcc	13	17	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:100062487T>A	ENST00000369215.4	+	4	2281	c.1976T>A	c.(1975-1977)cTc>cAc	p.L659H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	659					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)		CAGAGTCTGCTCGCCAAAGCG	0.677																																					p.L659H		.											.	PRDM13-135	0			c.T1976A						.						11	14	13					6																	100062487		1873	4011	5884	SO:0001583	missense	59336	exon4			GTCTGCTCGCCAA	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.1976T>A	6.37:g.100062487T>A	ENSP00000358217:p.Leu659His	Somatic	50	1		WXS	Illumina GAIIx	Phase_I	184	77	NM_021620	0	0	0	0	0	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407222	0.25378	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06528	3.29;3.3	5.53	-0.211	0.13172	.	0.659654	0.12521	N	0.461672	T	0.00666	0.0022	N	0.05259	-0.085	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47235	-0.9133	10	0.15499	T	0.54	-11.4958	2.2855	0.04125	0.2397:0.0701:0.2221:0.468	.	659	Q9H4Q3	PRD13_HUMAN	H	659;669	ENSP00000358217:L659H;ENSP00000358216:L669H	ENSP00000358216:L669H	L	+	2	0	PRDM13	100169208	0.880000	0.30214	0.441000	0.26858	0.968000	0.65278	0.727000	0.25999	0.347000	0.23924	0.379000	0.24179	CTC	.		0.677	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			A	100062487	T	A	100062487	3	1	31	1	0	0	0	0	1	0	0	0	12496	1551	54	5	1990	5	PRDM13	6	100062487	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	779111	100062487	71052580	976	6528											
MCHR2	84539	bcgsc.ca;mdanderson.org	37	chr6	100382334	100382334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcataaaattaaaatatagCacaccaaaatcaagggtaga	6	6	1	1	rs181709988		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:100382334C>A	ENST00000281806.2	-	5	961	c.647G>T	c.(646-648)tGc>tTc	p.C216F	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAAAATATAGCACACCAAAAT	0.323																																					p.C216F		.											.	MCHR2-525	0			c.G647T						.						103	105	104					6																	100382334		2203	4298	6501	SO:0001583	missense	84539	exon5			ATATAGCACACCA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.647G>T	6.37:g.100382334C>A	ENSP00000281806:p.Cys216Phe	Somatic	40	1		WXS	Illumina GAIIx	Phase_I	31	13	NM_001040179	0	0	0	0	0	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518988	0.64634	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.39592	1.07;1.07;1.07	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.47021	0.1423	L	0.55213	1.73	0.45087	D	0.998107	D	0.54601	0.967	P	0.58391	0.838	T	0.38329	-0.9666	10	0.42905	T	0.14	.	17.1083	0.86669	0.0:1.0:0.0:0.0	.	216	Q969V1	MCHR2_HUMAN	F	216	ENSP00000403490:C216F;ENSP00000281806:C216F;ENSP00000358214:C216F	ENSP00000281806:C216F	C	-	2	0	MCHR2	100489055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.885000	0.28227	2.384000	0.81235	0.655000	0.94253	TGC	C|1.000;G|0.000		0.323	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		A	100382334	C	A	100382334	3	1	31	1	0	0	0	0	1	0	0	0	9421	710	25	3	383	3	MCHR2	6	100382334	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	319847	100382334	70732733	977	6529											
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	102124584	102124584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agttacctgctgatacaaagGatgcaaaacccttactaaaa	6	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:102124584G>C	ENST00000421544.1	+	4	1118	c.628G>C	c.(628-630)Gat>Cat	p.D210H	GRIK2_ENST00000369138.1_Missense_Mutation_p.D210H|GRIK2_ENST00000369137.3_Missense_Mutation_p.D210H|GRIK2_ENST00000413795.1_Missense_Mutation_p.D210H|GRIK2_ENST00000358361.3_Missense_Mutation_p.D210H|GRIK2_ENST00000369134.4_Missense_Mutation_p.D161H|GRIK2_ENST00000318991.6_Missense_Mutation_p.D210H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	210					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)	TGATACAAAGGATGCAAAACC	0.368																																					p.D210H		.											.	GRIK2-157	0			c.G628C						.						73	74	74					6																	102124584		2203	4300	6503	SO:0001583	missense	2898	exon4			ACAAAGGATGCAA		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.628G>C	6.37:g.102124584G>C	ENSP00000397026:p.Asp210His	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	195	74	NM_021956	0	0	0	0	0	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767886	0.90020	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.107665	0.64402	D	0.000008	T	0.56217	0.1970	M	0.87180	2.865	0.80722	D	1	D;D;D	0.59357	0.985;0.979;0.974	P;D;P	0.65140	0.887;0.932;0.887	T	0.63129	-0.6706	10	0.87932	D	0	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	210;210;210	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	210;210;210;210;210;210;210;161;172	ENSP00000397026:D210H;ENSP00000405596:D210H;ENSP00000358134:D210H;ENSP00000351128:D210H;ENSP00000358133:D210H;ENSP00000313276:D210H;ENSP00000358130:D161H	ENSP00000313276:D210H	D	+	1	0	GRIK2	102231277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.867000	0.99620	2.698000	0.92095	0.585000	0.79938	GAT	.		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			C	102124584	G	C	102124584	3	2	31	1	0	0	0	0	1	0	0	0	6801	1174	41	3	642	3	GRIK2	6	102124584	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1742250	102124584	68990483	978	6530											
SCML4	256380	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	108041954	108041954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctcttggggctggagGctggaggcctcagcccaggt	16	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108041954G>A	ENST00000369020.3	-	6	1171	c.926C>T	c.(925-927)gCc>gTc	p.A309V	SCML4_ENST00000369025.2_Missense_Mutation_p.A67V|SCML4_ENST00000369022.2_Missense_Mutation_p.A251V|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.A280V	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	309	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGGCTGGAGGCTGGAGGCCT	0.597																																					p.A309V		.											.	SCML4-91	0			c.C926T						.						82	87	85					6																	108041954		2203	4300	6503	SO:0001583	missense	256380	exon6			CTGGAGGCTGGAG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.926C>T	6.37:g.108041954G>A	ENSP00000358016:p.Ala309Val	Somatic	57	1		WXS	Illumina GAIIx	Phase_I	75	23	NM_198081	0	0	0	0	0	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968271	0.34754	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.51817	0.88;0.88;0.69	5.19	4.33	0.51752	.	0.331705	0.26321	N	0.025058	T	0.25680	0.0625	L	0.48642	1.525	0.39751	D	0.971888	B;B;P	0.38827	0.084;0.008;0.649	B;B;B	0.36666	0.063;0.041;0.23	T	0.05683	-1.0870	10	0.26408	T	0.33	.	14.3543	0.66727	0.0:0.1981:0.8019:0.0	.	309;309;280	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	V	251;67;309;280	ENSP00000358018:A251V;ENSP00000358016:A309V;ENSP00000358017:A280V	ENSP00000358016:A309V	A	-	2	0	SCML4	108148647	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	3.404000	0.52623	1.425000	0.47237	0.650000	0.86243	GCC	.		0.597	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		A	108041954	G	A	108041954	3	1	31	1	0	0	0	0	1	0	0	0	13956	1203	42	3	330	3	SCML4	6	108041954	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5917370	108041954	63073113	979	6531											
SCML4	256380	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	108068044	108068044	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagctgctgcaccttcttCctctccagatagggccccgc	11	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108068044C>T	ENST00000369020.3	-	4	581	c.336G>A	c.(334-336)agG>agA	p.R112R	SCML4_ENST00000369022.2_Silent_p.R54R|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Silent_p.R83R	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCACCTTCTTCCTCTCCAGAT	0.642																																					p.R112R		.											.	SCML4-91	0			c.G336A						.						57	52	54					6																	108068044		2203	4300	6503	SO:0001819	synonymous_variant	256380	exon4			CTTCTTCCTCTCC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.336G>A	6.37:g.108068044C>T		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	138	42	NM_198081	0	0	0	0	0	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			.		0.642	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108068044	C	T	108068044	2	4	31	1	0	0	0	0	0	0	0	1	13956	854	30	3		3	SCML4	6	108068044	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	26090	108068044	63047023	980	6532											
LACE1	246269	broad.mit.edu	37	chr6	108677903	108677903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcatttaaggaatacatcGccttaaacagagtttgccaa	7	8	0	1	rs532639912		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108677903G>C	ENST00000368977.4	+	5	713	c.527G>C	c.(526-528)cGc>cCc	p.R176P		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	176						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GGAATACATCGCCTTAAACAG	0.323																																					p.R176P		.											.	LACE1-90	0			c.G527C						.						72	71	71					6																	108677903		2203	4300	6503	SO:0001583	missense	246269	exon5			TACATCGCCTTAA	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.527G>C	6.37:g.108677903G>C	ENSP00000357973:p.Arg176Pro	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	53	6	NM_145315	0	0	0	0	0	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.68|17.68	3.449417|3.449417	0.63178|0.63178	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977;ENST00000437715	.|.	.|.	.|.	5.6|5.6	3.82|3.82	0.43975|0.43975	.|.	.|0.111498	.|0.64402	.|D	.|0.000006	T|T	0.51160|0.51160	0.1658|0.1658	M|M	0.83774|0.83774	2.66|2.66	0.47009|0.47009	D|D	0.999287|0.999287	.|P	.|0.46987	.|0.888	.|P	.|0.44897	.|0.463	T|T	0.57027|0.57027	-0.7881|-0.7881	5|9	.|0.48119	.|T	.|0.1	-0.7806|-0.7806	12.0325|12.0325	0.53406|0.53406	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|176	.|Q8WV93	.|LACE1_HUMAN	P|P	44|176;143	.|.	.|ENSP00000357973:R176P	A|R	+|+	1|2	0|0	LACE1|LACE1	108784596|108784596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.318000|5.318000	0.65829|0.65829	0.722000|0.722000	0.32252|0.32252	0.557000|0.557000	0.71058|0.71058	GCC|CGC	.		0.323	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		C	108677903	G	C	108677903	3	2	31	1	0	0	0	0	1	0	0	0	8623	1087	38	2	545	2	LACE1	6	108677903	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	609859	108677903	62437164	981	6533											
RPF2	84154	broad.mit.edu	37	chr6	111329294	111329294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatttgctggcgatgaTttcgatgtaacagaagatta	10	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:111329294T>C	ENST00000441448.2	+	7	539	c.447T>C	c.(445-447)gaT>gaC	p.D149D	RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	149	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CTGGCGATGATTTCGATGTAA	0.313																																					p.D149D		.											.	RPF2-92	0			c.T447C						.						75	81	79					6																	111329294		2203	4300	6503	SO:0001819	synonymous_variant	84154	exon7			CGATGATTTCGAT	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.447T>C	6.37:g.111329294T>C		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	151	4	NM_032194	0	0	0	0	0	Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	CCDS5088.1																																																																																			.		0.313	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		C	111329294	T	C	111329294	2	2	31	1	0	0	0	0	0	0	0	1	13592	1490	52	4		4	RPF2	6	111329294	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2651391	111329294	59785773	982	6534											
WISP3	8838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	112375568	112375568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtcccagcgacatgcaggGgctcctcttctccactcttc	9	17	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:112375568G>T	ENST00000368666.2	+	1	294	c.8G>T	c.(7-9)gGg>gTg	p.G3V	WISP3_ENST00000230529.5_Missense_Mutation_p.G3V|WISP3_ENST00000361714.1_Missense_Mutation_p.G21V|WISP3_ENST00000604763.1_Missense_Mutation_p.G3V|WISP3_ENST00000483439.1_3'UTR	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	3					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)		GACATGCAGGGGCTCCTCTTC	0.587																																					p.G21V		.											.	WISP3-90	0			c.G62T						.						169	153	158					6																	112375568		2203	4300	6503	SO:0001583	missense	8838	exon1			TGCAGGGGCTCCT	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.8G>T	6.37:g.112375568G>T	ENSP00000357655:p.Gly3Val	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	121	42	NM_198239	0	0	0	0	0	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967543	0.53507	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400	T;T;T	0.79247	-1.2;-1.2;-1.25	5.04	1.1	0.20463	.	5.566250	0.00166	N	0.000000	T	0.42944	0.1225	N	0.14661	0.345	0.09310	N	1	B;B	0.22983	0.078;0.019	B;B	0.26969	0.075;0.034	T	0.33111	-0.9881	10	0.38643	T	0.18	.	6.7993	0.23742	0.1496:0.2713:0.5791:0.0	.	21;3	O95389-2;O95389	.;WISP3_HUMAN	V	3;3;21;3	ENSP00000357655:G3V;ENSP00000230529:G3V;ENSP00000354734:G21V	ENSP00000230529:G3V	G	+	2	0	WISP3	112482261	0.076000	0.21285	0.000000	0.03702	0.049000	0.14656	1.528000	0.35985	-0.018000	0.14079	0.650000	0.86243	GGG	.		0.587	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		T	112375568	G	T	112375568	3	4	31	1	0	0	0	0	1	0	0	0	17423	1232	43	3	64	3	WISP3	6	112375568	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1046274	112375568	58739499	983	6535											
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	114378755	114378755	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccacctttccagatgtTtggtgtagatgctggttctt	9	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:114378755T>A	ENST00000312719.5	-	5	1895	c.707A>T	c.(706-708)aAa>aTa	p.K236I	HS3ST5_ENST00000411826.1_Missense_Mutation_p.K236I|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	236					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)		TTCCAGATGTTTGGTGTAGAT	0.423																																					p.K236I		.											.	HS3ST5-92	0			c.A707T						.						225	225	225					6																	114378755		2203	4300	6503	SO:0001583	missense	222537	exon2			AGATGTTTGGTGT	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.707A>T	6.37:g.114378755T>A	ENSP00000427888:p.Lys236Ile	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	139	55	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559199	0.27827	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83163	-1.69;-1.69	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	L	0.28344	0.845	0.52501	D	0.999951	B	0.33940	0.433	P	0.45232	0.474	T	0.72909	-0.4149	10	0.22706	T	0.39	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	236	Q8IZT8	HS3S5_HUMAN	I	236	ENSP00000427888:K236I;ENSP00000440332:K236I	ENSP00000427888:K236I	K	-	2	0	HS3ST5	114485448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.906000	0.63293	2.324000	0.78689	0.533000	0.62120	AAA	.		0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		A	114378755	T	A	114378755	3	1	31	1	0	0	0	0	1	0	0	0	7395	1841	64	5	337	5	HS3ST5	6	114378755	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2003187	114378755	56736312	984	6536											
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	114379130	114379130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactactgccggatgtaggTtcagcatttcaagcagggcc	12	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:114379130T>G	ENST00000312719.5	-	5	1520	c.332A>C	c.(331-333)aAc>aCc	p.N111T	HS3ST5_ENST00000411826.1_Missense_Mutation_p.N111T|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	111					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)		CGGATGTAGGTTCAGCATTTC	0.483																																					p.N111T		.											.	HS3ST5-92	0			c.A332C						.						90	89	89					6																	114379130		2203	4300	6503	SO:0001583	missense	222537	exon2			TGTAGGTTCAGCA	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.332A>C	6.37:g.114379130T>G	ENSP00000427888:p.Asn111Thr	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	99	10	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220857	0.39201	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83075	-1.68;-1.68	5.62	5.62	0.85841	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	N	0.04260	-0.245	0.58432	D	0.999999	P	0.51351	0.944	B	0.43413	0.419	T	0.64495	-0.6394	10	0.17832	T	0.49	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	111	Q8IZT8	HS3S5_HUMAN	T	111	ENSP00000427888:N111T;ENSP00000440332:N111T	ENSP00000427888:N111T	N	-	2	0	HS3ST5	114485823	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.202000	0.72131	2.263000	0.75096	0.533000	0.62120	AAC	.		0.483	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		G	114379130	T	G	114379130	3	3	31	1	0	0	0	0	1	0	0	0	7395	1725	60	5	712	5	HS3ST5	6	114379130	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	375	114379130	56735937	985	6537											
GPRC6A	222545	hgsc.bcm.edu	37	chr6	117116960	117116960	+	Frame_Shift_Del	DEL	C	C	-													cttgtagttttcttcatttgCccaggactgcattccttgga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117116960delC	ENST00000310357.3	-	5	1608	c.1587delG	c.(1585-1587)gggfs	p.G529fs	GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.G458fs|GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.G354fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	529					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCATTTGCCCAGGACTGC	0.318																																					p.G529fs		.											.	GPRC6A-96	0			c.1587delG						.						164	145	152					6																	117116960		2203	4300	6503	SO:0001589	frameshift_variant	222545	exon5			CATTTGCCCAGGA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1587delG	6.37:g.117116960delC	ENSP00000309493:p.Gly529fs	Somatic	57	2		WXS	Illumina GAIIx	Phase_I	74	23	NM_148963	0	0	0	0	0	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Frame_Shift_Del	DEL	ENST00000310357.3	37	CCDS5112.1																																																																																			.		0.318	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			-	117116960	C	-	117116960	7	5	31	1	0	1	0	1	0	0	0	0	6755	726	26	0	1201	0	GPRC6A	6	117116960	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	2737830	117116960	53998107	986	6538											
GPRC6A	222545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	117130541	117130541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttctgagtacccagaaCctatgacagccttaactctt	5	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117130541C>A	ENST00000310357.3	-	2	455	c.434G>T	c.(433-435)gGt>gTt	p.G145V	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G145V|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G145V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	145					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTACCCAGAACCTATGACAGC	0.428																																					p.G145V		.											.	GPRC6A-96	0			c.G434T						.						92	89	90					6																	117130541		2203	4300	6503	SO:0001583	missense	222545	exon2			CCAGAACCTATGA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.434G>T	6.37:g.117130541C>A	ENSP00000309493:p.Gly145Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	109	50	NM_148963	0	0	0	0	0	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286150	0.80803	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.97831	-4.56;-4.56;-4.56	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.98985	0.9654	M	0.91510	3.215	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99521	1.0958	10	0.66056	D	0.02	.	18.1821	0.89781	0.0:1.0:0.0:0.0	.	145;145;145	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	V	145	ENSP00000309493:G145V;ENSP00000357537:G145V;ENSP00000433465:G145V	ENSP00000309493:G145V	G	-	2	0	GPRC6A	117237234	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.878000	0.75567	2.531000	0.85337	0.585000	0.79938	GGT	.		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117130541	C	A	117130541	3	1	31	1	0	0	0	0	1	0	0	0	6755	507	18	3	2366	3	GPRC6A	6	117130541	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13581	117130541	53984526	987	6539											
ROS1	6098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	117709087	117709087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttatgttcaagaaaatatGagtgacttcaggagggtctt	10	5	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117709087G>A	ENST00000368508.3	-	13	2068	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	ROS1_ENST00000368507.3_Missense_Mutation_p.H619Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	624	Fibronectin type-III 3. {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)		AAGAAAATATGAGTGACTTCA	0.443			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.H624Y		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1-1353	0			c.C1870T						.						164	162	163					6																	117709087		2203	4300	6503	SO:0001583	missense	6098	exon13			AAATATGAGTGAC	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.1870C>T	6.37:g.117709087G>A	ENSP00000357494:p.His624Tyr	Somatic	132	2		WXS	Illumina GAIIx	Phase_I	178	57	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	2.076	-0.411967	0.04799	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71103	-0.54;1.12	5.24	5.24	0.73138	.	1.434160	0.03881	N	0.277165	T	0.49932	0.1586	L	0.46157	1.445	0.36861	D	0.888387	B	0.23650	0.089	B	0.20955	0.032	T	0.31943	-0.9925	10	0.22109	T	0.4	.	9.6449	0.39861	0.1003:0.0:0.8997:0.0	.	624	P08922	ROS1_HUMAN	Y	624;619	ENSP00000357494:H624Y;ENSP00000357493:H619Y	ENSP00000357493:H619Y	H	-	1	0	ROS1	117815780	0.032000	0.19561	0.939000	0.37840	0.236000	0.25371	0.390000	0.20768	2.630000	0.89119	0.561000	0.74099	CAT	.		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117709087	G	A	117709087	3	1	31	1	0	0	0	0	1	0	0	0	13576	1290	45	3	5297	3	ROS1	6	117709087	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	578546	117709087	53405980	988	6540											
C6orf170	221322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	121563361	121563361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatacctgtaatttttttgCatatcgattgaatataaatg	5	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:121563361C>A	ENST00000398212.2	-	18	2192	c.2143G>T	c.(2143-2145)Gca>Tca	p.A715S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.A715S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	715					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)										AATTTTTTTGCATATCGATTG	0.338																																					p.A715S		.											.	C6orf170-92	0			c.G2143T						.						94	87	89					6																	121563361		1829	4089	5918	SO:0001583	missense	221322	exon18			TTTTTGCATATCG	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.2143G>T	6.37:g.121563361C>A	ENSP00000381270:p.Ala715Ser	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	77	21	NM_152730	0	0	0	0	0	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275775	0.23307	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19669	2.13;2.13	5.0	1.17	0.20885	.	0.352762	0.28595	N	0.014787	T	0.11196	0.0273	L	0.40543	1.245	0.28621	N	0.908163	D;B	0.71674	0.998;0.012	D;B	0.80764	0.994;0.041	T	0.07751	-1.0756	10	0.09590	T	0.72	.	4.2352	0.10621	0.2497:0.4616:0.0:0.2887	.	715;715	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	S	715	ENSP00000275159:A715S;ENSP00000381270:A715S	ENSP00000275159:A715S	A	-	1	0	C6orf170	121605060	0.973000	0.33851	0.949000	0.38748	0.818000	0.46254	0.824000	0.27379	0.001000	0.14605	-1.159000	0.01794	GCA	.		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		A	121563361	C	A	121563361	3	1	31	1	0	0	0	0	1	0	0	0	2351	710	25	3	1690	3	C6orf170	6	121563361	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3854274	121563361	49551706	989	6541											
NKAIN2	154215	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	124979429	124979429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcagtgacacctgcccCagactgggccccagaagacc	11	16	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:124979429C>T	ENST00000368417.1	+	4	431	c.371C>T	c.(370-372)cCa>cTa	p.P124L	NKAIN2_ENST00000545433.1_Missense_Mutation_p.P109L|NKAIN2_ENST00000368416.1_Missense_Mutation_p.P124L|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACACCTGCCCCAGACTGGGCC	0.507																																					p.P124L		.											.	NKAIN2-23	0			c.C371T						.						158	129	139					6																	124979429		2203	4300	6503	SO:0001583	missense	154215	exon4			CTGCCCCAGACTG	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.371C>T	6.37:g.124979429C>T	ENSP00000357402:p.Pro124Leu	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	184	75	NM_001040214	0	0	0	0	0	Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319280	0.81469	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.15017	2.46;2.46;2.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	L	0.46885	1.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	T	0.00472	-1.1719	10	0.38643	T	0.18	-13.5369	19.9132	0.97031	0.0:1.0:0.0:0.0	.	109;123;124;124	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	L	124;124;123;109	ENSP00000357401:P124L;ENSP00000357402:P124L;ENSP00000437798:P109L	ENSP00000357401:P124L	P	+	2	0	NKAIN2	125021128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.433000	0.80362	2.710000	0.92621	0.644000	0.83932	CCA	.		0.507	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		T	124979429	C	T	124979429	3	4	31	1	0	0	0	0	1	0	0	0	10475	594	21	3	385	3	NKAIN2	6	124979429	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3416068	124979429	46135638	990	6542											
LAMA2	3908	ucsc.edu;bcgsc.ca	37	chr6	129641765	129641765	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacttgattgaaaaatgtGattgtcccctgggctattct	9	8	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:129641765G>T	ENST00000421865.2	+	28	4190	c.4141G>T	c.(4141-4143)Gat>Tat	p.D1381Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1381	Laminin EGF-like 14; 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)		TGAAAAATGTGATTGTCCCCT	0.453																																					p.D1381Y		.											.	LAMA2-162	0			c.G4141T						.						171	158	163					6																	129641765		2203	4300	6503	SO:0001583	missense	3908	exon28			AAATGTGATTGTC	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.4141G>T	6.37:g.129641765G>T	ENSP00000400365:p.Asp1381Tyr	Somatic	140	3		WXS	Illumina GAIIx	Phase_I	144	45	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857955	0.32791	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62498	0.02	5.27	5.27	0.74061	EGF-like, laminin (1);	0.103806	0.64402	D	0.000005	T	0.72755	0.3500	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.67900	0.954;0.954	T	0.73962	-0.3817	10	0.59425	D	0.04	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	1381;1381	A6NF00;P24043	.;LAMA2_HUMAN	Y	1381	ENSP00000400365:D1381Y	ENSP00000346769:D1381Y	D	+	1	0	LAMA2	129683458	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.275000	0.78548	2.628000	0.89032	0.563000	0.77884	GAT	.		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129641765	G	T	129641765	3	4	31	1	0	0	0	0	1	0	0	0	8634	1290	45	3	4251	3	LAMA2	6	129641765	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4662336	129641765	41473302	991	6543											
LAMA2	3908	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	129766860	129766860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagaacaggaagctgaccGgctaatagataaactcaaac	8	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:129766860G>T	ENST00000421865.2	+	45	6372	c.6323G>T	c.(6322-6324)cGg>cTg	p.R2108L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2108	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCTGACCGGCTAATAGAT	0.408																																					p.R2108L		.											.	LAMA2-162	0			c.G6323T						.						66	62	64					6																	129766860		2203	4300	6503	SO:0001583	missense	3908	exon45			CTGACCGGCTAAT	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.6323G>T	6.37:g.129766860G>T	ENSP00000400365:p.Arg2108Leu	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	132	52	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380287	0.24944	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.41065	1.01	5.23	5.23	0.72850	Laminin II (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	N	0.20986	0.625	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20107	-1.0285	10	0.24483	T	0.36	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	2109;2108	A6NF00;P24043	.;LAMA2_HUMAN	L	2108;2107;2108;126	ENSP00000400365:R2108L	ENSP00000346769:R2107L	R	+	2	0	LAMA2	129808553	1.000000	0.71417	0.963000	0.40424	0.873000	0.50193	7.654000	0.83653	2.450000	0.82876	0.655000	0.94253	CGG	.		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129766860	G	T	129766860	3	4	31	1	0	0	0	0	1	0	0	0	8634	1116	39	2	6501	2	LAMA2	6	129766860	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	125095	129766860	41348207	992	6544											
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	130761684	130761684	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctacccaagagaagaagccCatcaggcgccggccccgggc	13	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130761684C>G	ENST00000296978.3	+	3	988	c.117C>G	c.(115-117)ccC>ccG	p.P39P	TMEM200A_ENST00000545622.1_Silent_p.P39P|TMEM200A_ENST00000392429.1_Silent_p.P39P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	39						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAAGAAGCCCATCAGGCGCC	0.532																																					p.P39P		.											.	TMEM200A-23	0			c.C117G						.						109	119	115					6																	130761684		2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			GAAGCCCATCAGG	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.117C>G	6.37:g.130761684C>G		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	88	41	NM_001258277	0	0	0	0	0	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																			.		0.532	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		G	130761684	C	G	130761684	2	3	31	1	0	0	0	0	0	0	0	1	16170	581	21	3		3	TMEM200A	6	130761684	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	994824	130761684	40353383	993	6545											
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	130762826	130762826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggaaacatccaagttggcCtaggttggatcggaacaaca	11	9	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130762826C>A	ENST00000296978.3	+	3	2130	c.1259C>A	c.(1258-1260)cCt>cAt	p.P420H	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P420H|TMEM200A_ENST00000392429.1_Missense_Mutation_p.P420H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	420						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAAGTTGGCCTAGGTTGGAT	0.483																																					p.P420H		.											.	TMEM200A-23	0			c.C1259A						.						102	93	96					6																	130762826		2203	4300	6503	SO:0001583	missense	114801	exon3			GTTGGCCTAGGTT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1259C>A	6.37:g.130762826C>A	ENSP00000296978:p.Pro420His	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	73	27	NM_001258277	0	0	0	0	0	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471840	0.84533	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70360	-0.4893	9	0.87932	D	0	-22.4123	20.4008	0.98991	0.0:1.0:0.0:0.0	.	420	Q86VY9	T200A_HUMAN	H	420	.	ENSP00000296978:P420H	P	+	2	0	TMEM200A	130804519	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.877000	0.69675	2.826000	0.97356	0.655000	0.94253	CCT	.		0.483	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		A	130762826	C	A	130762826	3	1	31	1	0	0	0	0	1	0	0	0	16170	681	24	3	1261	3	TMEM200A	6	130762826	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1142	130762826	40352241	994	6546											
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	130762909	130762909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggttgcttgtgccccaaGttgccatcaaaaaggacttt	9	9	1	0	rs371246357		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130762909G>T	ENST00000296978.3	+	3	2213	c.1342G>T	c.(1342-1344)Gtt>Ttt	p.V448F	TMEM200A_ENST00000545622.1_Missense_Mutation_p.V448F|TMEM200A_ENST00000392429.1_Missense_Mutation_p.V448F	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	448						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTGCCCCAAGTTGCCATCAA	0.388																																					p.V448F		.											.	TMEM200A-23	0			c.G1342T						.						104	100	101					6																	130762909		2203	4300	6503	SO:0001583	missense	114801	exon3			CCCCAAGTTGCCA	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1342G>T	6.37:g.130762909G>T	ENSP00000296978:p.Val448Phe	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	55	22	NM_001258277	0	0	0	0	0	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236210	0.39498	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	3.22	0.36961	.	0.350307	0.28098	N	0.016611	T	0.13372	0.0324	N	0.19112	0.55	0.21915	N	0.999477	B	0.26876	0.162	B	0.30855	0.121	T	0.15867	-1.0422	9	0.56958	D	0.05	-6.6	10.7545	0.46228	0.1997:0.0:0.8003:0.0	.	448	Q86VY9	T200A_HUMAN	F	448	.	ENSP00000296978:V448F	V	+	1	0	TMEM200A	130804602	0.998000	0.40836	0.114000	0.21550	0.955000	0.61496	3.658000	0.54482	0.409000	0.25649	0.655000	0.94253	GTT	.		0.388	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		T	130762909	G	T	130762909	3	4	31	1	0	0	0	0	1	0	0	0	16170	1029	36	3	1344	3	TMEM200A	6	130762909	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	83	130762909	40352158	995	6547											
TAAR5	9038	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	132910041	132910041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggcagccagcacaagAggtatatgcccacagcaatg	12	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:132910041A>T	ENST00000258034.2	-	1	836	c.785T>A	c.(784-786)cTc>cAc	p.L262H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	262					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CCAGCACAAGAGGTATATGCC	0.522																																					p.L262H		.											.	TAAR5-91	0			c.T785A						.						76	78	77					6																	132910041		2203	4300	6503	SO:0001583	missense	9038	exon1			CACAAGAGGTATA	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.785T>A	6.37:g.132910041A>T	ENSP00000258034:p.Leu262His	Somatic	269	2		WXS	Illumina GAIIx	Phase_I	310	120	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880960	0.72294	.	.	ENSG00000135569	ENST00000258034	T	0.73469	-0.75	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.216802	0.31897	N	0.006893	D	0.89083	0.6614	H	0.95574	3.69	0.46631	D	0.99913	D	0.89917	1.0	D	0.83275	0.996	D	0.92206	0.5772	10	0.87932	D	0	-24.8283	15.9198	0.79552	1.0:0.0:0.0:0.0	.	262	O14804	TAAR5_HUMAN	H	262	ENSP00000258034:L262H	ENSP00000258034:L262H	L	-	2	0	TAAR5	132951734	0.981000	0.34729	0.997000	0.53966	0.949000	0.60115	7.244000	0.78228	2.343000	0.79666	0.533000	0.62120	CTC	.		0.522	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		T	132910041	A	T	132910041	3	4	31	1	0	0	0	0	1	0	0	0	15538	304	11	5	232	5	TAAR5	6	132910041	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2147132	132910041	38205026	996	6548											
TAAR5	9038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	132910108	132910108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcttggcagccccagccaGgcttttgctcaatgtggtaa	11	11	1	0	rs188569215		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:132910108G>T	ENST00000258034.2	-	1	769	c.718C>A	c.(718-720)Ctg>Atg	p.L240M		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	240					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCCCCAGCCAGGCTTTTGCTC	0.502																																					p.L240M		.											.	TAAR5-91	0			c.C718A						.						44	45	45					6																	132910108		2203	4300	6503	SO:0001583	missense	9038	exon1			CAGCCAGGCTTTT	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.718C>A	6.37:g.132910108G>T	ENSP00000258034:p.Leu240Met	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	140	55	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188453	0.09547	.	.	ENSG00000135569	ENST00000258034	T	0.38401	1.14	5.58	-0.874	0.10631	GPCR, rhodopsin-like superfamily (1);	0.890844	0.09295	N	0.821755	T	0.12817	0.0311	M	0.62016	1.91	0.09310	N	1	B	0.20368	0.044	B	0.23275	0.045	T	0.34129	-0.9841	10	0.37606	T	0.19	-1.3126	2.7094	0.05170	0.3163:0.1008:0.4434:0.1394	.	240	O14804	TAAR5_HUMAN	M	240	ENSP00000258034:L240M	ENSP00000258034:L240M	L	-	1	2	TAAR5	132951801	0.000000	0.05858	0.208000	0.23602	0.483000	0.33249	-0.683000	0.05179	-0.057000	0.13199	-0.345000	0.07892	CTG	G|0.999;A|0.001		0.502	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		T	132910108	G	T	132910108	3	4	31	1	0	0	0	0	1	0	0	0	15538	991	35	3	299	3	TAAR5	6	132910108	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	67	132910108	38204959	997	6549											
VNN1	8876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	133032885	133032885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccagtttacttcagGgtctgggatgtcctccaaat	12	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:133032885G>A	ENST00000367928.4	-	2	317	c.304C>T	c.(304-306)Cct>Tct	p.P102S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	102	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)		TTTACTTCAGGGTCTGGGATG	0.398																																					p.P102S		.											.	VNN1-93	0			c.C304T						.						116	115	115					6																	133032885		2203	4300	6503	SO:0001583	missense	8876	exon2			CTTCAGGGTCTGG	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.304C>T	6.37:g.133032885G>A	ENSP00000356905:p.Pro102Ser	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	114	27	NM_004666	0	0	0	0	0	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012459	0.75046	.	.	ENSG00000112299	ENST00000367928	D	0.90676	-2.71	5.6	4.72	0.59763	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.072915	0.64402	N	0.000019	D	0.92179	0.7520	M	0.87180	2.865	0.53688	D	0.99997	D	0.58620	0.983	P	0.51999	0.687	D	0.92304	0.5852	10	0.49607	T	0.09	-20.5712	14.3746	0.66865	0.0724:0.0:0.9275:0.0	.	102	O95497	VNN1_HUMAN	S	102	ENSP00000356905:P102S	ENSP00000356905:P102S	P	-	1	0	VNN1	133074578	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.120000	0.64685	1.362000	0.46000	0.555000	0.69702	CCT	.		0.398	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			A	133032885	G	A	133032885	3	1	31	1	0	0	0	0	1	0	0	0	17231	1232	43	3	1261	3	VNN1	6	133032885	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	122777	133032885	38082182	998	6550											
EYA4	2070	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	133836501	133836501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcctggctacagttaaGggcagagattgaaggtctga	15	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:133836501G>T	ENST00000367895.5	+	17	2008	c.1544G>T	c.(1543-1545)aGg>aTg	p.R515M	EYA4_ENST00000355286.6_Missense_Mutation_p.R492M|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.R521M|EYA4_ENST00000430974.2_Missense_Mutation_p.R467M|EYA4_ENST00000525849.1_Missense_Mutation_p.R492M|EYA4_ENST00000452339.2_Missense_Mutation_p.R461M|EYA4_ENST00000355167.3_Missense_Mutation_p.R515M|EYA4_ENST00000431403.2_Missense_Mutation_p.R515M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	515					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTACAGTTAAGGGCAGAGATT	0.428																																					p.R515M	Melanoma(57;398 1237 3528 4702 7415)	.											.	EYA4-578	0			c.G1544T						.						184	175	178					6																	133836501		2203	4300	6503	SO:0001583	missense	2070	exon17			AGTTAAGGGCAGA	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1544G>T	6.37:g.133836501G>T	ENSP00000356870:p.Arg515Met	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	111	25	NM_172105	0	0	0	0	0	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106392	0.94292	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.73	5.73	0.89815	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.84219	2.685	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	0.989;0.992;0.998;0.998;0.994;0.989	D	0.91557	0.5261	10	0.87932	D	0	-19.4283	20.2602	0.98440	0.0:0.0:1.0:0.0	.	521;467;461;492;515;515	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	M	461;467;515;515;492;521;492;515	ENSP00000395916:R461M;ENSP00000388670:R467M;ENSP00000356870:R515M;ENSP00000347294:R515M;ENSP00000347434:R492M;ENSP00000432770:R521M;ENSP00000433219:R492M;ENSP00000404558:R515M	ENSP00000347294:R515M	R	+	2	0	EYA4	133878194	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	AGG	.		0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		T	133836501	G	T	133836501	3	4	31	1	0	0	0	0	1	0	0	0	5347	1000	35	3	1606	3	EYA4	6	133836501	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	803616	133836501	37278566	999	6551											
AHI1	54806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	135754223	135754223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatcaaactgtcggacCaatatggcagaatcttctct	7	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:135754223C>A	ENST00000367800.4	-	14	2424	c.2208G>T	c.(2206-2208)ttG>ttT	p.L736F	AHI1_ENST00000417892.2_Missense_Mutation_p.L90F|AHI1_ENST00000327035.6_Missense_Mutation_p.L736F|AHI1_ENST00000457866.2_Missense_Mutation_p.L736F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	736					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)		ACTGTCGGACCAATATGGCAG	0.378																																					p.L736F		.											.	AHI1-227	0			c.G2208T						.						146	139	141					6																	135754223		1869	4108	5977	SO:0001583	missense	54806	exon15			TCGGACCAATATG	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.2208G>T	6.37:g.135754223C>A	ENSP00000356774:p.Leu736Phe	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	189	62	NM_001134832	0	0	0	0	0	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.43|11.43	1.635446|1.635446	0.29068|0.29068	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.74|5.74	0.802|0.802	0.18686|0.18686	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|T	0.55816|0.55816	0.1944|0.1944	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;0.997;1.0|.	D;D;D|.	0.81914|.	0.916;0.949;0.995|.	T|T	0.56836|0.56836	-0.7913|-0.7913	10|5	0.87932|.	D|.	0|.	-9.0325|-9.0325	4.365|4.365	0.11220|0.11220	0.2227:0.4378:0.0:0.3395|0.2227:0.4378:0.0:0.3395	.|.	736;736;736|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	F|L	736;736;90;736;736;736|236	ENSP00000356774:L736F;ENSP00000388650:L736F;ENSP00000416867:L90F;ENSP00000265602:L736F;ENSP00000322478:L736F|.	ENSP00000265602:L736F|.	L|W	-|-	3|2	2|0	AHI1|AHI1	135795916|135795916	0.478000|0.478000	0.25917|0.25917	0.202000|0.202000	0.23494|0.23494	0.006000|0.006000	0.05464|0.05464	0.168000|0.168000	0.16622|0.16622	0.070000|0.070000	0.16634|0.16634	-0.140000|-0.140000	0.14226|0.14226	TTG|TGG	.		0.378	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		A	135754223	C	A	135754223	3	1	31	1	0	0	0	0	1	0	0	0	413	593	21	3	1495	3	AHI1	6	135754223	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1917722	135754223	35360844	1000	6552											
AHI1	54806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	135754324	135754324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagctggatggaatttagCcgtgtaaacaaaagaaggat	11	5	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:135754324C>A	ENST00000367800.4	-	14	2323	c.2107G>T	c.(2107-2109)Gct>Tct	p.A703S	AHI1_ENST00000417892.2_Missense_Mutation_p.A57S|AHI1_ENST00000327035.6_Missense_Mutation_p.A703S|AHI1_ENST00000457866.2_Missense_Mutation_p.A703S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	703					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)		TGGAATTTAGCCGTGTAAACA	0.348																																					p.A703S		.											.	AHI1-227	0			c.G2107T						.						103	97	99					6																	135754324		1845	4088	5933	SO:0001583	missense	54806	exon15			ATTTAGCCGTGTA	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.2107G>T	6.37:g.135754324C>A	ENSP00000356774:p.Ala703Ser	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	89	34	NM_001134832	0	0	0	0	0	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260010	0.80246	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046004	0.85682	D	0.000000	T	0.62660	0.2446	L	0.52823	1.66	0.80722	D	1	P;P;D	0.56968	0.875;0.898;0.978	B;P;P	0.57324	0.423;0.559;0.818	T	0.60255	-0.7299	10	0.42905	T	0.14	-19.3427	19.6098	0.95600	0.0:1.0:0.0:0.0	.	703;703;703	Q8N157-2;Q8N157;Q4FD35	.;AHI1_HUMAN;.	S	703;703;57;703;703;703	ENSP00000356774:A703S;ENSP00000388650:A703S;ENSP00000416867:A57S;ENSP00000265602:A703S;ENSP00000322478:A703S	ENSP00000265602:A703S	A	-	1	0	AHI1	135796017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.531000	0.67148	2.633000	0.89246	0.561000	0.74099	GCT	.		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		A	135754324	C	A	135754324	3	1	31	1	0	0	0	0	1	0	0	0	413	739	26	3	1596	3	AHI1	6	135754324	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	101	135754324	35360743	1001	6553											
BCLAF1	9774	hgsc.bcm.edu	37	chr6	136582203	136582396	+	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-													caaaaatcaggtaaaaaaaaTggtgggtgcaagttctgctc					rs376948280|rs537502804|rs562481221|rs527483217|rs112744301|rs375440569|rs74299323|rs370252607|rs570210520|rs111800140|rs370457195|rs76890371|rs193167212	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	ENST00000531224.1	-	0	3010_3060				BCLAF1_ENST00000392348.2_Stop_Codon_Del|BCLAF1_ENST00000031135.9_Stop_Codon_Del|BCLAF1_ENST00000530767.1_Stop_Codon_Del|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Stop_Codon_Del|BCLAF1_ENST00000353331.4_Stop_Codon_Del|BCLAF1_ENST00000527759.1_Stop_Codon_Del	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						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)		GTAAAAAAAATGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATTTTATACCTTT	0.299																																					p.920_921del	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.2758_3016del						.																																			SO:0001567	stop_retained_variant	9774	exon13			AAAAAATGGTGGG	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	Exception_encountered	6.37:g.136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	Exception_encountered	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	143	0	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	CCDS5177.1																																																																																			.		0.299	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		-	136582396	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	136582203	7	5	31	1	0	1	0	1	0	0	0	0	1384	1479	51	0		0	BCLAF1	6	136582203	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TCGA-OR-A5KB-01A-11D-A30A-10	827879	136582203	34532864	1002	6554											
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	136599766	136599766	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcgatgatatctacctcCtcctccttgataataccctc	3	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:136599766C>A	ENST00000531224.1	-	4	505	c.253G>T	c.(253-255)Gga>Tga	p.G85*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.G83*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.G85*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.G85*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.G83*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.G83*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	85					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)		TATCTACCTCCTCCTCCTTGA	0.448																																					p.G85X	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.G253T						.						114	108	110					6																	136599766		2203	4300	6503	SO:0001587	stop_gained	9774	exon4			TACCTCCTCCTCC	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.253G>T	6.37:g.136599766C>A	ENSP00000435210:p.Gly85*	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	200	21	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705476	0.89018	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7995	17.8791	0.88834	0.0:1.0:0.0:0.0	.	.	.	.	X	85;83;85;85;83;83;85	.	ENSP00000229446:G83X	G	-	1	0	BCLAF1	136641459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.717000	0.54911	2.660000	0.90430	0.557000	0.71058	GGA	.		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136599766	C	A	136599766	4	1	31	1	0	0	0	0	0	1	0	0	1384	690	24	3	2549	3	BCLAF1	6	136599766	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	17563	136599766	34515301	1003	6555											
TXLNB	167838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	139563758	139563758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctgctgctcgtggggGctgcctactgggctcgcatg	15	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:139563758G>T	ENST00000358430.3	-	10	2192	c.1960C>A	c.(1960-1962)Ccc>Acc	p.P654T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	654						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTCGTGGGGGCTGCCTACTG	0.647																																					p.P654T		.											.	TXLNB-91	0			c.C1960A						.						53	58	56					6																	139563758		2203	4300	6503	SO:0001583	missense	167838	exon10			GTGGGGGCTGCCT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1960C>A	6.37:g.139563758G>T	ENSP00000351206:p.Pro654Thr	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	105	20	NM_153235	0	0	0	0	0	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248402	0.39797	.	.	ENSG00000164440	ENST00000358430	T	0.20463	2.07	5.82	2.94	0.34122	.	0.176739	0.33813	N	0.004536	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.30029	0.11	T	0.34725	-0.9817	9	.	.	.	-2.125	5.1907	0.15209	0.151:0.0:0.6811:0.1678	.	654	Q8N3L3	TXLNB_HUMAN	T	654	ENSP00000351206:P654T	.	P	-	1	0	TXLNB	139605451	0.078000	0.21339	0.004000	0.12327	0.062000	0.15995	0.846000	0.27682	0.824000	0.34613	0.591000	0.81541	CCC	.		0.647	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139563758	G	T	139563758	3	4	31	1	0	0	0	0	1	0	0	0	16837	1203	42	3	98	3	TXLNB	6	139563758	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2963992	139563758	31551309	1004	6556											
GPR126	57211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	142691775	142691775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattgtctctctaaaagGggacatttataactttcgac	7	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:142691775G>T	ENST00000230173.6	+	4	1390	c.914G>T	c.(913-915)gGg>gTg	p.G305V	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.G305V|GPR126_ENST00000296932.8_Missense_Mutation_p.G305V|GPR126_ENST00000367609.3_Missense_Mutation_p.G305V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	305	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCTCTAAAAGGGGACATTTAT	0.373																																					p.G305V		.											.	GPR126-91	0			c.G914T						.						130	130	130					6																	142691775		1822	4072	5894	SO:0001583	missense	57211	exon4			TAAAAGGGGACAT	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.914G>T	6.37:g.142691775G>T	ENSP00000230173:p.Gly305Val	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	136	51	NM_198569	0	0	0	0	0	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295260	0.40594	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.01	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.261079	0.33834	N	0.004520	D	0.94788	0.8317	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.996;0.997	D;D;D;D	0.69654	0.959;0.959;0.941;0.965	D	0.95025	0.8164	10	0.87932	D	0	.	13.507	0.61489	0.0:0.1205:0.7538:0.1257	.	305;305;305;305	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	V	305	ENSP00000230173:G305V;ENSP00000356580:G305V;ENSP00000296932:G305V;ENSP00000356581:G305V	ENSP00000230173:G305V	G	+	2	0	GPR126	142733468	1.000000	0.71417	0.841000	0.33234	0.004000	0.04260	7.315000	0.78998	0.851000	0.35264	-0.175000	0.13238	GGG	.		0.373	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142691775	G	T	142691775	3	4	31	1	0	0	0	0	1	0	0	0	6666	1232	43	3	928	3	GPR126	6	142691775	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3128017	142691775	28423292	1005	6557											
ADAT2	134637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	143749780	143749780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtttgtagaaggtcttTaacatttccactgcttcctc	6	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:143749780T>C	ENST00000237283.8	-	5	515	c.501A>G	c.(499-501)ttA>ttG	p.L167L	ADAT2_ENST00000606514.1_Silent_p.L120L	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	167					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		AGAAGGTCTTTAACATTTCCA	0.398																																					p.L167L		.											.	ADAT2-90	0			c.A501G						.						71	69	70					6																	143749780		1849	4093	5942	SO:0001819	synonymous_variant	134637	exon5			GGTCTTTAACATT	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"deaminase domain containing 1", "adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.501A>G	6.37:g.143749780T>C		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	89	36	NM_182503	0	0	0	0	0	A6NL12|B3KWY3|Q7Z327|Q8IY39	Silent	SNP	ENST00000237283.8	37	CCDS43511.1																																																																																			.		0.398	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		C	143749780	T	C	143749780	2	2	31	1	0	0	0	0	0	0	0	1	285	1751	61	4		4	ADAT2	6	143749780	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1058005	143749780	27365287	1006	6558											
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	151672276	151672276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccttcttggatatctgcttCagtgacagaacctcttgaac	7	11	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:151672276C>T	ENST00000253332.1	+	3	2939	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	AKAP12_ENST00000354675.6_Missense_Mutation_p.S819L|AKAP12_ENST00000402676.2_Missense_Mutation_p.S917L|AKAP12_ENST00000359755.5_Missense_Mutation_p.S812L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	917					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)		ATATCTGCTTCAGTGACAGAA	0.488																																					p.S917L	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.C2750T						.						60	65	64					6																	151672276		2203	4300	6503	SO:0001583	missense	9590	exon4			CTGCTTCAGTGAC	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.2750C>T	6.37:g.151672276C>T	ENSP00000253332:p.Ser917Leu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	135	27	NM_005100	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999904	0.35320	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08193	3.12;3.12;3.13;3.13	5.4	3.56	0.40772	.	0.000000	0.37304	N	0.002151	T	0.02970	0.0088	L	0.43701	1.375	0.31601	N	0.652752	B;B;B	0.19200	0.033;0.033;0.034	B;B;B	0.19946	0.027;0.027;0.012	T	0.28170	-1.0052	10	0.45353	T	0.12	.	9.1413	0.36906	0.1438:0.782:0.0:0.0742	.	812;819;917	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	917;917;819;812	ENSP00000384537:S917L;ENSP00000253332:S917L;ENSP00000346702:S819L;ENSP00000352794:S812L	ENSP00000253332:S917L	S	+	2	0	AKAP12	151713969	0.731000	0.28111	0.201000	0.23476	0.611000	0.37282	2.779000	0.47734	1.288000	0.44600	-0.254000	0.11334	TCA	.		0.488	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151672276	C	T	151672276	3	4	31	1	0	0	0	0	1	0	0	0	448	838	29	3	2789	3	AKAP12	6	151672276	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7922496	151672276	19442791	1007	6559											
C6orf97	80129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	151917690	151917690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccgagctcaaagccaaacTggccgacaccaatgaactga	8	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:151917690T>A	ENST00000239374.7	+	9	1787	c.1688T>A	c.(1687-1689)cTg>cAg	p.L563Q	CCDC170_ENST00000367290.5_Missense_Mutation_p.L563Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	563																	AAAGCCAAACTGGCCGACACC	0.458																																					p.L563Q		.											.	.	0			c.T1688A						.						89	95	93					6																	151917690		2068	4213	6281	SO:0001583	missense	80129	exon9			CCAAACTGGCCGA	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.1688T>A	6.37:g.151917690T>A	ENSP00000239374:p.Leu563Gln	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	161	51	NM_025059	0	0	0	0	0	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580395	0.65992	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.79454	2.92;-1.27	5.63	5.63	0.86233	.	0.271223	0.30437	N	0.009640	D	0.85526	0.5717	M	0.81239	2.535	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85204	0.1017	10	0.36615	T	0.2	-8.6528	15.8429	0.78864	0.0:0.0:0.0:1.0	.	563	Q8IYT3	CF097_HUMAN	Q	563	ENSP00000239374:L563Q;ENSP00000356259:L563Q	ENSP00000239374:L563Q	L	+	2	0	C6orf97	151959383	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	5.557000	0.67313	2.145000	0.66743	0.533000	0.62120	CTG	.		0.458	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		A	151917690	T	A	151917690	3	1	31	1	0	0	0	0	1	0	0	0	2381	1580	55	5	1722	5	C6orf97	6	151917690	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	245414	151917690	19197377	1008	6560											
ESR1	2099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	152201872	152201872	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agctgccaggcctgccggctCcgtaaatgctacgaagtggg	14	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152201872C>G	ENST00000206249.3	+	3	1088	c.726C>G	c.(724-726)ctC>ctG	p.L242L	ESR1_ENST00000443427.1_Silent_p.L242L|ESR1_ENST00000456483.2_Silent_p.L242L|ESR1_ENST00000440973.1_Silent_p.L242L|ESR1_ENST00000427531.2_Silent_p.L69L|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Silent_p.L242L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	242	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCTGCCGGCTCCGTAAATGCT	0.547																																					p.L242L		.											.	ESR1-1042	0			c.C726G						.						54	54	54					6																	152201872		2203	4300	6503	SO:0001819	synonymous_variant	2099	exon3			CCGGCTCCGTAAA	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.726C>G	6.37:g.152201872C>G		Somatic	73	1		WXS	Illumina GAIIx	Phase_I	84	33	NM_000125	0	0	0	0	0	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975410	0.18736	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	.	6.8124	0.23812	0.2958:0.0871:0.5021:0.115	.	.	.	.	C	147	.	.	S	+	2	0	ESR1	152243565	0.000000	0.05858	0.353000	0.25747	0.988000	0.76386	-4.399000	0.00240	-2.219000	0.00729	-0.211000	0.12701	TCC	.		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			G	152201872	C	G	152201872	2	3	31	1	0	0	0	0	0	0	0	1	5272	842	30	3		3	ESR1	6	152201872	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	284182	152201872	18913195	1009	6561											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	152647669	152647669	+	Frame_Shift_Del	DEL	C	C	-													cacgtctaggccattgcctgCcagctgtaacaattcttggg					rs574614311		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152647669delC	ENST00000367255.5	-	79	15656	c.15055delG	c.(15055-15057)gcafs	p.A5019fs	SYNE1_ENST00000265368.4_Frame_Shift_Del_p.A5019fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.A4948fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.A4948fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.A4766fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5019					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)		CCATTGCCTGCCAGCTGTAAC	0.458										HNSCC(10;0.0054)																											p.A5019fs		.											.	SYNE1-607	0			c.15055delG						.						68	68	68					6																	152647669		2203	4300	6503	SO:0001589	frameshift_variant	23345	exon79			TGCCTGCCAGCTG	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.15055delG	6.37:g.152647669delC	ENSP00000356224:p.Ala5019fs	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	126	33	NM_182961	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		-	152647669	C	-	152647669	7	5	31	1	0	1	0	1	0	0	0	0	15492	739	26	0	11683	0	SYNE1	6	152647669	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	445797	152647669	18467398	1010	6562											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	152737529	152737529	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttcctatttacctctgctGaagagcttggcgggtaggtt	12	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152737529G>A	ENST00000367255.5	-	41	6644	c.6043C>T	c.(6043-6045)Cag>Tag	p.Q2015*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q2015*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q2022*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q2022*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q2052*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2015					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)		TACCTCTGCTGAAGAGCTTGG	0.398										HNSCC(10;0.0054)																											p.Q2022X		.											.	SYNE1-607	0			c.C6064T						.						187	193	191					6																	152737529		2203	4300	6503	SO:0001587	stop_gained	23345	exon41			TCTGCTGAAGAGC	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.6043C>T	6.37:g.152737529G>A	ENSP00000356224:p.Gln2015*	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	34	11	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	50	16.487831	0.99864	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.97	5.97	0.96955	.	0.104486	0.42548	D	0.000696	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	2015;2022;2015;2022;2052	.	ENSP00000265368:Q2015X	Q	-	1	0	SYNE1	152779222	1.000000	0.71417	0.894000	0.35097	0.480000	0.33159	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CAG	.		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152737529	G	A	152737529	4	1	31	1	0	0	0	0	0	1	0	0	15492	1299	45	3	20847	3	SYNE1	6	152737529	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	89860	152737529	18377538	1011	6563											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	152793441	152793441	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagatattctcttacctctcGgccatgtcctctaattgatc	5	13	3	2	rs373091521		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152793441G>C	ENST00000367255.5	-	15	2059	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A	SYNE1_ENST00000265368.4_Silent_p.A486A|SYNE1_ENST00000367248.3_Silent_p.A476A|SYNE1_ENST00000448038.1_Silent_p.A493A|SYNE1_ENST00000413186.2_Silent_p.A486A|SYNE1_ENST00000423061.1_Silent_p.A493A|SYNE1_ENST00000367253.4_Silent_p.A486A|SYNE1_ENST00000495090.2_Silent_p.A53A|SYNE1_ENST00000466159.2_Silent_p.A486A|SYNE1_ENST00000341594.5_Silent_p.A493A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	486					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)		CTTACCTCTCGGCCATGTCCT	0.378										HNSCC(10;0.0054)																											p.A493A		.											.	SYNE1-607	0			c.C1479G						.						114	107	109					6																	152793441		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon15			CCTCTCGGCCATG	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.1458C>G	6.37:g.152793441G>C		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	112	35	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152793441	G	C	152793441	2	2	31	1	0	0	0	0	0	0	0	1	15492	1103	39	2		2	SYNE1	6	152793441	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	55912	152793441	18321626	1012	6564											
MYCT1	80177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	153042879	153042879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgttttctttgtttcagagGaccttatcatgtccttcact	6	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:153042879G>T	ENST00000367245.5	+	2	207	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	67						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTTTCAGAGGACCTTATCAT	0.363																																					p.D67Y		.											.	MYCT1-91	0			c.G199T						.						115	105	109					6																	153042879		2203	4300	6503	SO:0001583	missense	80177	exon2			TCAGAGGACCTTA	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.199G>T	6.37:g.153042879G>T	ENSP00000356214:p.Asp67Tyr	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	62	30	NM_025107	0	0	0	0	0	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.787606|2.787606	0.49997|0.49997	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.35973|.	1.28|.	5.86|5.86	5.0|5.0	0.66597|0.66597	.|.	0.414140|.	0.28382|.	N|.	0.015547|.	T|T	0.50394|0.50394	0.1613|0.1613	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D|.	0.56035|.	0.974;0.974|.	P;P|.	0.51135|.	0.66;0.66|.	T|T	0.52808|0.52808	-0.8526|-0.8526	10|5	0.72032|.	D|.	0.01|.	-12.9647|-12.9647	10.7769|10.7769	0.46354|0.46354	0.0744:0.1676:0.758:0.0|0.0744:0.1676:0.758:0.0	.|.	19;67|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	Y|S	67|47	ENSP00000356214:D67Y|.	ENSP00000356214:D67Y|.	D|R	+|+	1|3	0|2	MYCT1|MYCT1	153084572|153084572	0.996000|0.996000	0.38824|0.38824	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	1.745000|1.745000	0.38278|0.38278	1.484000|1.484000	0.48361|0.48361	0.637000|0.637000	0.83480|0.83480	GAC|AGG	.		0.363	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		T	153042879	G	T	153042879	3	4	31	1	0	0	0	0	1	0	0	0	10060	1174	41	3	205	3	MYCT1	6	153042879	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	249438	153042879	18072188	1013	6565											
IPCEF1	26034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	154587053	154587053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatacttacaagagcaCtgccatcaatagccatgtat	7	9	1	1	rs139019503		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:154587053C>A	ENST00000265198.4	-	3	184	c.29G>T	c.(28-30)aGt>aTt	p.S10I	IPCEF1_ENST00000422970.2_Missense_Mutation_p.S10I|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S10I	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	10					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TACAAGAGCACTGCCATCAAT	0.328																																					p.S10I		.											.	IPCEF1-90	0			c.G29T						.						152	158	156					6																	154587053		2203	4300	6503	SO:0001583	missense	26034	exon4			AGAGCACTGCCAT	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.29G>T	6.37:g.154587053C>A	ENSP00000265198:p.Ser10Ile	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	119	44	NM_001130699	0	0	0	0	0	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	3.672	-0.067274	0.07273	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000520261	T;T;T	0.15718	2.4;2.42;2.42	4.68	0.0265	0.14150	.	0.449617	0.20193	N	0.097270	T	0.02807	0.0084	N	0.08118	0	0.38325	D	0.943636	B;P	0.40794	0.01;0.729	B;B	0.38803	0.011;0.282	T	0.46219	-0.9207	10	0.51188	T	0.08	0.0	7.2467	0.26125	0.0:0.4884:0.0:0.5116	.	10;10	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	I	10	ENSP00000265198:S10I;ENSP00000394751:S10I;ENSP00000356189:S10I	ENSP00000265198:S10I	S	-	2	0	IPCEF1	154628745	0.733000	0.28132	0.017000	0.16124	0.640000	0.38277	0.166000	0.16583	-0.143000	0.11334	-0.345000	0.07892	AGT	C|1.000;T|0.000		0.328	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		A	154587053	C	A	154587053	3	1	31	1	0	0	0	0	1	0	0	0	7818	565	20	3	1327	3	IPCEF1	6	154587053	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1544174	154587053	16528014	1014	6566											
TIAM2	26230	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	155450837	155450837	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccgcaagagcccccgAgtgctcatcaaaacgctggg	12	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155450837A>T	ENST00000461783.3	+	6	1753	c.480A>T	c.(478-480)cgA>cgT	p.R160R	TIAM2_ENST00000529824.2_Silent_p.R160R|TIAM2_ENST00000456144.1_Silent_p.R160R|TIAM2_ENST00000318981.5_Silent_p.R160R|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.R160R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	160					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCCCCCGAGTGCTCATCA	0.582																																					p.R160R		.											.	TIAM2-93	0			c.A480T						.						45	46	45					6																	155450837		2203	4300	6503	SO:0001819	synonymous_variant	26230	exon3			CCCCCGAGTGCTC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.480A>T	6.37:g.155450837A>T		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	60	20	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																			.		0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155450837	A	T	155450837	2	4	31	1	0	0	0	0	0	0	0	1	15938	291	11	5		5	TIAM2	6	155450837	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	863784	155450837	15664230	1015	6567											
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	155458506	155458506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatttatgagaatttcatgCgagagttggaaatgagcagg	12	4	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155458506C>G	ENST00000461783.3	+	7	2663	c.1390C>G	c.(1390-1392)Cga>Gga	p.R464G	TIAM2_ENST00000529824.2_Missense_Mutation_p.R464G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R464G|TIAM2_ENST00000318981.5_Missense_Mutation_p.R464G|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R464G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	464					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATTTCATGCGAGAGTTGGA	0.512																																					p.R464G		.											.	TIAM2-93	0			c.C1390G						.						104	112	109					6																	155458506		2203	4300	6503	SO:0001583	missense	26230	exon4			TTCATGCGAGAGT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1390C>G	6.37:g.155458506C>G	ENSP00000437188:p.Arg464Gly	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	120	36	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461470	0.63513	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.08984	3.12;3.03;3.09;3.12;3.16;3.09	6.08	5.2	0.72013	.	0.060275	0.64402	D	0.000004	T	0.10078	0.0247	M	0.75264	2.295	0.80722	D	1	B	0.33583	0.418	B	0.39738	0.308	T	0.00950	-1.1503	10	0.87932	D	0	.	16.7505	0.85484	0.1303:0.8697:0.0:0.0	.	464	Q8IVF5	TIAM2_HUMAN	G	464;710;464;464;464;464;464	ENSP00000437188:R464G;ENSP00000434901:R464G;ENSP00000407746:R464G;ENSP00000327315:R464G;ENSP00000353528:R464G;ENSP00000433348:R464G	ENSP00000327315:R464G	R	+	1	2	TIAM2	155500198	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	2.365000	0.44196	1.561000	0.49584	0.655000	0.94253	CGA	.		0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		G	155458506	C	G	155458506	3	3	31	1	0	0	0	0	1	0	0	0	15938	760	27	2	1396	2	TIAM2	6	155458506	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7669	155458506	15656561	1016	6568											
NOX3	50508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	155764494	155764494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagaagtccctgggcctcCtcggactggctccagtggta	13	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155764494C>A	ENST00000159060.2	-	5	501	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	133	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCTGGGCCTCCTCGGACTGGC	0.582																																					p.E133D		.											.	NOX3-91	0			c.G399T						.						101	85	91					6																	155764494		2203	4300	6503	SO:0001583	missense	50508	exon5			GGCCTCCTCGGAC	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.399G>T	6.37:g.155764494C>A	ENSP00000159060:p.Glu133Asp	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	218	85	NM_015718	0	0	0	0	0	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.067166	0.08388	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.52	-4.62	0.03370	Flavoprotein transmembrane component (1);	1.039460	0.07548	N	0.914879	T	0.73426	0.3585	N	0.19112	0.55	0.09310	N	1	B	0.20887	0.049	B	0.18871	0.023	T	0.68830	-0.5305	10	0.14252	T	0.57	-0.5478	0.4619	0.00518	0.2043:0.2493:0.2025:0.3439	.	133	Q9HBY0	NOX3_HUMAN	D	133	ENSP00000159060:E133D	ENSP00000159060:E133D	E	-	3	2	NOX3	155806186	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.286000	0.01152	-0.521000	0.06426	0.561000	0.74099	GAG	.		0.582	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155764494	C	A	155764494	3	1	31	1	0	0	0	0	1	0	0	0	10596	680	24	3	1343	3	NOX3	6	155764494	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	305988	155764494	15350573	1017	6569											
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	157505500	157505500	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaagatcgaacgtggggagGagcccccgccggaagtcttc	15	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:157505500G>T	ENST00000350026.5	+	12	3443	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.E1161*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E1201*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E1143*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1148					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)		ACGTGGGGAGGAGCCCCCGCC	0.582																																					p.E1161X		.											.	ARID1B-154	0			c.G3481T						.						59	59	59					6																	157505500		2203	4296	6499	SO:0001587	stop_gained	57492	exon13			GGGGAGGAGCCCC	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.3442G>T	6.37:g.157505500G>T	ENSP00000055163:p.Glu1148*	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	187	75	NM_020732	0	0	0	0	0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	39	7.505018	0.98325	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	1161;1148;1201;1143;618;670;623;215	.	ENSP00000275248:E1143X	E	+	1	0	ARID1B	157547192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.793000	0.96121	0.655000	0.94253	GAG	.		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157505500	G	T	157505500	4	4	31	1	0	0	0	0	0	1	0	0	914	1175	41	3	3531	3	ARID1B	6	157505500	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1741006	157505500	13609567	1018	6570											
RSPH3	83861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	159401950	159401950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgcattatttcccactGctgtttcttacgccgttcct	6	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:159401950G>A	ENST00000252655.1	-	6	1330	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	RSPH3_ENST00000367069.2_Nonsense_Mutation_p.Q239*|RSPH3_ENST00000449822.1_Nonsense_Mutation_p.Q143*|RSPH3_ENST00000297262.3_Nonsense_Mutation_p.Q285*	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	381										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ATTTCCCACTGCTGTTTCTTA	0.478																																					p.Q381X		.											.	RSPH3-92	0			c.C1141T						.						225	182	197					6																	159401950		2203	4300	6503	SO:0001587	stop_gained	83861	exon6			CCCACTGCTGTTT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1141C>T	6.37:g.159401950G>A	ENSP00000252655:p.Gln381*	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	156	47	NM_031924	0	0	0	0	0	Q96LQ5|Q96LX2|Q9BX75	Nonsense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	38	6.679273	0.97755	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	.	.	.	5.65	5.65	0.86999	.	0.051353	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-31.8415	18.2981	0.90154	0.0:0.0:1.0:0.0	.	.	.	.	X	239;143;381;285	.	ENSP00000252655:Q381X	Q	-	1	0	RSPH3	159321938	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	9.039000	0.93777	2.660000	0.90430	0.467000	0.42956	CAG	.		0.478	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		A	159401950	G	A	159401950	4	1	31	1	0	0	0	0	0	1	0	0	13750	1328	46	3	553	3	RSPH3	6	159401950	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1896450	159401950	11713117	1019	6571											
FNDC1	84624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	159646610	159646610	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagggggaattggccaggTgggattataagcagatcgct	16	5	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:159646610T>A	ENST00000297267.9	+	8	1128	c.928T>A	c.(928-930)Tgg>Agg	p.W310R	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.W310R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	310	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)		ATTGGCCAGGTGGGATTATAA	0.458																																					p.W310R		.											.	FNDC1-138	0			c.T928A						.						257	256	256					6																	159646610		1971	4156	6127	SO:0001583	missense	84624	exon8			GCCAGGTGGGATT	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.928T>A	6.37:g.159646610T>A	ENSP00000297267:p.Trp310Arg	Somatic	154	2		WXS	Illumina GAIIx	Phase_I	193	66	NM_032532	0	0	0	0	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.957618|3.957618	0.73902|0.73902	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.58652	.|0.32;0.32	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68622|0.68622	0.3021|0.3021	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.72714|0.72714	-0.4210|-0.4210	5|10	.|0.72032	.|D	.|0.01	-15.9351|-15.9351	16.2108|16.2108	0.82158|0.82158	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|310;310	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	268|310	.|ENSP00000297267:W310R;ENSP00000342460:W310R	.|ENSP00000297267:W310R	V|W	+|+	2|1	0|0	FNDC1|FNDC1	159566598|159566598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.595000|7.595000	0.82710|0.82710	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	GTG|TGG	.		0.458	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159646610	T	A	159646610	3	1	31	1	0	0	0	0	1	0	0	0	5990	1696	59	5	958	5	FNDC1	6	159646610	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	244660	159646610	11468457	1020	6572											
IGF2R	3482	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	160468850	160468850	+	Frame_Shift_Del	DEL	C	C	-													gataactccacctacaacttCcggtggtacaccagctatgc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468850delC	ENST00000356956.1	+	17	2404	c.2256delC	c.(2254-2256)ttcfs	p.F752fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	752					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)	CCTACAACTTCCGGTGGTACA	0.552																																					p.F752fs		.											.	IGF2R-118	0			c.2256delC						.						106	97	100					6																	160468850		2203	4300	6503	SO:0001589	frameshift_variant	3482	exon17			CAACTTCCGGTGG	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.2256delC	6.37:g.160468850delC	ENSP00000349437:p.Phe752fs	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	123	39	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		-	160468850	C	-	160468850	7	5	31	1	0	1	0	1	0	0	0	0	7603	854	30	0	2322	0	IGF2R	6	160468850	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	822240	160468850	10646217	1021	6573	52	3									
IGF2R	3482	hgsc.bcm.edu	37	chr6	160468851	160468852	+	Frame_Shift_Del	DEL	CG	CG	-													ataactccacctacaacttcCggtggtacaccagctatgcc					rs141234361|rs146539241		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468851_160468852delCG	ENST00000356956.1	+	17	2405_2406	c.2257_2258delCG	c.(2257-2259)cggfs	p.R753fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					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)	CTACAACTTCCGGTGGTACACC	0.55																																					p.753_753del		.											.	IGF2R-118	0			c.2257_2258del						.																																			SO:0001589	frameshift_variant	3482	exon17			AACTTCCGGTGGT	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.2257_2258delCG	6.37:g.160468851_160468852delCG	ENSP00000349437:p.Arg753fs	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	120	0	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.55	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		-	160468852	CG	-	160468851	7	5	31	1	0	1	0	1	0	0	0	0	7603	643	23	0	2323	0	IGF2R	6	160468851	Frame_Shift_Del	DEL	CG	TCGA-OR-A5KB-01A-11D-A30A-10	1	160468851	10646216	1022	6574	52	3									
IGF2R	3482	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr6	160468852	160468852	+	Missense_Mutation	SNP	G	G	T													taactccacctacaacttccGgtggtacaccagctatgcct					rs141234361		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468852G>T	ENST00000356956.1	+	17	2406	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					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)	TACAACTTCCGGTGGTACACC	0.552																																					p.R753L		.											.	IGF2R-118	0			c.G2258T						.						109	98	102					6																	160468852		2203	4300	6503	SO:0001583	missense	3482	exon17			ACTTCCGGTGGTA	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.2258G>T	6.37:g.160468852G>T	ENSP00000349437:p.Arg753Leu	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	121	40	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147390	0.77888	.	.	ENSG00000197081	ENST00000356956	T	0.02121	4.44	5.14	5.14	0.70334	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.04815	0.0130	M	0.77616	2.38	0.40204	D	0.977543	D	0.65815	0.995	P	0.60068	0.868	T	0.14144	-1.0483	10	0.45353	T	0.12	-11.437	8.8209	0.35025	0.2101:0.0:0.7899:0.0	.	753	P11717	MPRI_HUMAN	L	753	ENSP00000349437:R753L	ENSP00000349437:R753L	R	+	2	0	IGF2R	160388842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.407000	0.81776	0.561000	0.74099	CGG	G|1.000;A|0.000		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160468852	G	T	160468852	3	4	31	1	0	0	0	0	1	0	0	0	7603	1116	39	2	2324	2	IGF2R	6	160468852	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1	160468852	10646215	1023	6575	52	3									
PLG	5340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	161134147	161134147	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgactactgcgacattctTgagtgtgaaggtcaggagtg	13	6	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:161134147T>A	ENST00000308192.9	+	5	600	c.537T>A	c.(535-537)ctT>ctA	p.L179L	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	179	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCGACATTCTTGAGTGTGAAG	0.448																																					p.L179L		.											.	PLG-94	0			c.T537A						.						137	132	133					6																	161134147		2203	4300	6503	SO:0001819	synonymous_variant	5340	exon5			CATTCTTGAGTGT	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.537T>A	6.37:g.161134147T>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	137	46	NM_000301	0	0	0	0	0	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			.		0.448	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161134147	T	A	161134147	2	1	31	1	0	0	0	0	0	0	0	1	12125	1799	63	5		5	PLG	6	161134147	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	665295	161134147	9980920	1024	6576											
PDE10A	10846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	165801852	165801852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtggagtagagagcggCcagagggtggtcgaacttct	18	6	1	2	rs560876640		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:165801852C>A	ENST00000366882.1	-	18	1871	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	PDE10A_ENST00000354448.4_Missense_Mutation_p.A573S|PDE10A_ENST00000539869.2_Missense_Mutation_p.A583S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	573					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TAGAGAGCGGCCAGAGGGTGG	0.547																																					p.A583S	Esophageal Squamous(22;308 615 5753 12038 40624)	.											.	PDE10A-519	0			c.G1747T						.						140	114	123					6																	165801852		2203	4300	6503	SO:0001583	missense	10846	exon17			GAGCGGCCAGAGG	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1717G>T	6.37:g.165801852C>A	ENSP00000355847:p.Ala573Ser	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	177	55	NM_001130690	0	0	0	0	0	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599643	0.66332	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.83837	-1.77;-1.77	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	L	0.56769	1.78	0.80722	D	1	B;P	0.41214	0.119;0.742	B;P	0.54965	0.177;0.765	D	0.86125	0.1571	10	0.56958	D	0.05	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	583;573	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	573;601;583;573;572	ENSP00000355847:A573S;ENSP00000346435:A573S	ENSP00000341187:A583S	A	-	1	0	PDE10A	165721842	1.000000	0.71417	0.288000	0.24862	0.162000	0.22319	7.207000	0.77899	2.797000	0.96272	0.563000	0.77884	GCC	.		0.547	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			A	165801852	C	A	165801852	3	1	31	1	0	0	0	0	1	0	0	0	11669	739	26	3	646	3	PDE10A	6	165801852	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4667705	165801852	5313215	1025	6577											
T	6862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	166580287	166580287	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaagtccagcaggaaggaGtacatggcgttggggtccag	16	8	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:166580287G>T	ENST00000296946.2	-	3	732	c.264C>A	c.(262-264)taC>taA	p.Y88*	T_ENST00000366871.3_Nonsense_Mutation_p.Y88*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	88					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)		GCAGGAAGGAGTACATGGCGT	0.662									Chordoma, Familial Clustering of																												p.Y88X		.											.	T-516	0			c.C264A						.						68	59	62					6																	166580287		2203	4300	6503	SO:0001587	stop_gained	6862	exon3	Familial Cancer Database		GAAGGAGTACATG	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.264C>A	6.37:g.166580287G>T	ENSP00000296946:p.Tyr88*	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	225	81	NM_003181	0	0	0	0	0	E7ERD6|Q4KMP4	Nonsense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	37	6.493523	0.97612	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	.	.	.	4.62	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7222	0.40311	0.2291:0.0:0.7709:0.0	.	.	.	.	X	88	.	ENSP00000296946:Y88X	Y	-	3	2	T	166500277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	0.131000	0.18576	0.655000	0.94253	TAC	.		0.662	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		T	166580287	G	T	166580287	4	4	31	1	0	0	0	0	0	1	0	0	15535	1024	36	3	1071	3	T	6	166580287	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	778435	166580287	4534780	1026	6578											
UNC93A	54346	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167721323	167721323	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtggagacctcgtgctGaccatctggcagtgttcttc	12	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:167721323G>T	ENST00000230256.3	+	7	1208	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	UNC93A_ENST00000366829.2_Missense_Mutation_p.D303Y	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	345						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)		ACCTCGTGCTGACCATCTGGC	0.617																																					p.D345Y		.											.	UNC93A-90	0			c.G1033T						.						147	109	122					6																	167721323		2203	4300	6503	SO:0001583	missense	54346	exon7			CGTGCTGACCATC	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.1033G>T	6.37:g.167721323G>T	ENSP00000230256:p.Asp345Tyr	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	204	70	NM_018974	0	0	0	0	0	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	6.116	0.389659	0.11581	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.19532	2.14;2.14	4.56	-9.11	0.00711	Major facilitator superfamily domain, general substrate transporter (1);	1.952780	0.02821	N	0.125560	T	0.07863	0.0197	M	0.70595	2.14	0.09310	N	1	B;P	0.36483	0.215;0.555	B;B	0.38985	0.071;0.287	T	0.10894	-1.0610	10	0.51188	T	0.08	-1.2556	3.4413	0.07465	0.4613:0.2659:0.1842:0.0886	.	303;345	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	Y	345;303	ENSP00000230256:D345Y;ENSP00000355794:D303Y	ENSP00000230256:D345Y	D	+	1	0	UNC93A	167641313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.322000	0.08007	-2.392000	0.00585	-0.302000	0.09304	GAC	.		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		T	167721323	G	T	167721323	3	4	31	1	0	0	0	0	1	0	0	0	17045	1290	45	3	1059	3	UNC93A	6	167721323	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1141036	167721323	3393744	1027	6579											
TTLL2	83887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167755029	167755029	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcagaccgtggcaaAgctccagatccccaagcagg	11	14	1	2	rs111648937		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:167755029A>T	ENST00000239587.5	+	3	1729	c.1641A>T	c.(1639-1641)aaA>aaT	p.K547N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	547					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGTGGCAAAGCTCCAGATC	0.512																																					p.K547N		.											.	TTLL2-92	0			c.A1641T						.						117	106	110					6																	167755029		2203	4300	6503	SO:0001583	missense	83887	exon3			TGGCAAAGCTCCA	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1641A>T	6.37:g.167755029A>T	ENSP00000239587:p.Lys547Asn	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	165	54	NM_031949	0	0	0	0	0	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345882	0.24426	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02525	4.26	4.04	-6.63	0.01807	.	1.474540	0.04579	N	0.394692	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47182	-0.9137	10	0.16896	T	0.51	.	9.2132	0.37331	0.6419:0.1137:0.2444:0.0	.	547	Q9BWV7	TTLL2_HUMAN	N	547;474	ENSP00000239587:K547N	ENSP00000239587:K547N	K	+	3	2	TTLL2	167675019	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.586000	0.02110	-1.522000	0.01769	-0.415000	0.06103	AAA	.		0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		T	167755029	A	T	167755029	3	4	31	1	0	0	0	0	1	0	0	0	16776	69	3	5	1651	5	TTLL2	6	167755029	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	33706	167755029	3360038	1028	6580											
KIF25	3834	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	168442775	168442775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaccccgcagggcatgCggagcaggtgcaggctcgac	17	12	0	0	rs138311357	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:168442775C>T	ENST00000443060.2	+	8	1164	c.773C>T	c.(772-774)gCg>gTg	p.A258V	KIF25_ENST00000351261.3_Missense_Mutation_p.A258V|KIF25_ENST00000354419.2_Missense_Mutation_p.A258V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	258	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGGGCATGCGGAGCAGGTG	0.662																																					p.A258V		.											.	KIF25-92	0			c.C773T						.						24	23	23					6																	168442775		2139	4204	6343	SO:0001583	missense	3834	exon7			GGCATGCGGAGCA	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.773C>T	6.37:g.168442775C>T	ENSP00000388878:p.Ala258Val	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	219	33	NM_030615	0	0	0	0	0	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.107687	0.01813	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.73152	-0.72;-0.72;0.01	3.9	-7.8	0.01214	Kinesin, motor domain (4);	5.378250	0.00166	N	0.000003	T	0.17577	0.0422	N	0.10664	0.02	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.001;0.004	T	0.23726	-1.0180	10	0.62326	D	0.03	-11.7612	2.5803	0.04816	0.2389:0.093:0.3957:0.2725	.	258;258	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	V	258	ENSP00000388878:A258V;ENSP00000346401:A258V;ENSP00000252688:A258V	ENSP00000252688:A258V	A	+	2	0	KIF25	168185624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.398000	0.00484	-5.651000	0.00011	-3.450000	0.00036	GCG	C|0.999;A|0.001		0.662	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			T	168442775	C	T	168442775	3	4	31	1	0	0	0	0	1	0	0	0	8320	768	27	1	795	1	KIF25	6	168442775	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	687746	168442775	2672292	1029	6581											
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	169629675	169629675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctgctcctaccttctcatCggtcacaccgtcattgtcat	6	15	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:169629675C>A	ENST00000366787.3	-	15	2500	c.2251G>T	c.(2251-2253)Gat>Tat	p.D751Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	751					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)		ACCTTCTCATCGGTCACACCG	0.562																																					p.D751Y	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G2251T						.						177	155	162					6																	169629675		2203	4300	6503	SO:0001583	missense	7058	exon15			TCTCATCGGTCAC		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.2251G>T	6.37:g.169629675C>A	ENSP00000355751:p.Asp751Tyr	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	97	31	NM_003247	0	0	0	0	0	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084619	0.36758	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.99252	-5.63	4.51	4.51	0.55191	.	0.164580	0.27773	U	0.017916	D	0.98760	0.9583	M	0.87097	2.86	0.58432	D	0.999999	B	0.28350	0.208	B	0.36092	0.217	D	0.99966	1.1866	10	0.87932	D	0	-30.9776	17.201	0.86906	0.0:1.0:0.0:0.0	.	751	P35442	TSP2_HUMAN	Y	751;9	ENSP00000355751:D751Y	ENSP00000355751:D751Y	D	-	1	0	THBS2	169371600	1.000000	0.71417	0.545000	0.28153	0.017000	0.09413	7.257000	0.78362	2.211000	0.71520	0.579000	0.79373	GAT	.		0.562	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169629675	C	A	169629675	3	1	31	1	0	0	0	0	1	0	0	0	15901	884	31	2	1303	2	THBS2	6	169629675	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1186900	169629675	1485392	1030	6582											
MAD1L1	8379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	1976421	1976421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcgcaggagcccgcgcagtCgctcgcactccgcctgcagc	13	19	0	0	rs373540167		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:1976421C>A	ENST00000406869.1	-	17	2266	c.1709G>T	c.(1708-1710)cGa>cTa	p.R570L	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R570L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R570L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R478L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	570					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCGCGCAGTCGCTCGCACTC	0.687																																					p.R570L		.											.	MAD1L1-1083	0			c.G1709T						.						16	21	19					7																	1976421		2123	4191	6314	SO:0001583	missense	8379	exon17			CGCAGTCGCTCGC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1709G>T	7.37:g.1976421C>A	ENSP00000385334:p.Arg570Leu	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	117	40	NM_003550	0	0	0	0	0	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267900	0.40095	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	4.77	1.43	0.22495	.	0.399810	0.26650	N	0.023214	T	0.22044	0.0531	L	0.59436	1.845	0.30140	N	0.804037	P;P;P	0.39404	0.672;0.672;0.582	B;B;B	0.38327	0.271;0.196;0.151	T	0.10177	-1.0641	10	0.35671	T	0.21	-29.0411	7.3823	0.26862	0.0:0.5878:0.0:0.4122	.	569;478;570	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	L	478;570;570;121;570;121;26	ENSP00000384155:R478L;ENSP00000382562:R570L;ENSP00000385334:R570L;ENSP00000265854:R570L;ENSP00000394886:R121L;ENSP00000394069:R26L	ENSP00000265854:R570L	R	-	2	0	MAD1L1	1942947	0.431000	0.25546	0.694000	0.30210	0.635000	0.38103	0.763000	0.26517	0.442000	0.26555	0.555000	0.69702	CGA	.		0.687	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	1976421	C	A	1976421	3	1	31	1	0	0	0	0	1	0	0	0	9183	884	31	2	459	2	MAD1L1	7	1976421	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		1976421	157162242	1031	6583											
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	2976779	2976779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctcgtcgttcttctcCtccagctcgcggatctgctt	7	16	5	0	rs375944730		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:2976779C>A	ENST00000396946.4	-	9	1636	c.1233G>T	c.(1231-1233)gaG>gaT	p.E411D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	411					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)		CGTTCTTCTCCTCCAGCTCGC	0.582			Mis		DLBCL																																p.E411D		.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11-870	0			c.G1233T						.						188	152	164					7																	2976779		2203	4300	6503	SO:0001583	missense	84433	exon9			CTTCTCCTCCAGC	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.1233G>T	7.37:g.2976779C>A	ENSP00000380150:p.Glu411Asp	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	145	40	NM_032415	0	0	0	0	0	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140380	0.77775	.	.	ENSG00000198286	ENST00000396946	T	0.35789	1.29	5.22	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.43923	1.385	0.53005	D	0.999961	D	0.67145	0.996	D	0.63283	0.913	T	0.30966	-0.9960	10	0.31617	T	0.26	-36.4501	13.1398	0.59428	0.0:0.9226:0.0:0.0774	.	411	Q9BXL7	CAR11_HUMAN	D	411	ENSP00000380150:E411D	ENSP00000380150:E411D	E	-	3	2	CARD11	2943305	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.093000	0.41710	1.220000	0.43490	-0.224000	0.12420	GAG	.		0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2976779	C	A	2976779	3	1	31	1	0	0	0	0	1	0	0	0	2652	680	24	3	2299	3	CARD11	7	2976779	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1000358	2976779	156161884	1032	6584											
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	2978414	2978414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggcctccttgcggtcgtgttCcaagatgtccaggatggcct	13	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:2978414C>G	ENST00000396946.4	-	7	1319	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	306					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)		CGGTCGTGTTCCAAGATGTCC	0.647			Mis		DLBCL																																p.E306Q		.		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	CARD11-870	0			c.G916C						.						84	69	74					7																	2978414		2203	4300	6503	SO:0001583	missense	84433	exon7			CGTGTTCCAAGAT	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.916G>C	7.37:g.2978414C>G	ENSP00000380150:p.Glu306Gln	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	75	13	NM_032415	0	0	0	0	0	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	30	5.057375	0.93846	.	.	ENSG00000198286	ENST00000396946	T	0.40225	1.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.53249	1.67	0.80722	D	1	P	0.51147	0.942	P	0.54924	0.764	T	0.55016	-0.8206	10	0.59425	D	0.04	-38.7428	18.8613	0.92273	0.0:1.0:0.0:0.0	.	306	Q9BXL7	CAR11_HUMAN	Q	306	ENSP00000380150:E306Q	ENSP00000380150:E306Q	E	-	1	0	CARD11	2944940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.646000	0.83445	2.690000	0.91761	0.591000	0.81541	GAA	.		0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2978414	C	G	2978414	3	3	31	1	0	0	0	0	1	0	0	0	2652	864	30	3	2624	3	CARD11	7	2978414	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1635	2978414	156160249	1033	6585											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	31	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2393992	5372406	153766257	1034	6586											
TNRC18	84629	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	5401321	5401321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccagggcctctgcgtGccaagcttctatggggttcc	13	14	2	0	rs374589169		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:5401321G>A	ENST00000430969.1	-	14	4913	c.4565C>T	c.(4564-4566)gCa>gTa	p.A1522V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1522V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1522							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)		GCCTCTGCGTGCCAAGCTTCT	0.672																																					p.A1522V		.											.	TNRC18-46	0			c.C4565T						.	G	VAL/ALA	0,3086		0,0,1543	31	33	32		4565	4.8	1	7		32	1,7059		0,1,3529	no	missense	TNRC18	NM_001080495.2	64	0,1,5072	AA,AG,GG		0.0142,0.0,0.0099	benign	1522/2969	5401321	1,10145	1543	3530	5073	SO:0001583	missense	84629	exon14			CTGCGTGCCAAGC	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.4565C>T	7.37:g.5401321G>A	ENSP00000395538:p.Ala1522Val	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	73	18	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817720	0.50633	0.0	1.42E-4	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.16743	2.33;2.32	4.84	4.84	0.62591	.	0.000000	0.34555	N	0.003871	T	0.19327	0.0464	M	0.62016	1.91	0.44523	D	0.997472	B	0.31968	0.349	B	0.28139	0.086	T	0.02491	-1.1151	10	0.48119	T	0.1	.	13.3925	0.60832	0.0787:0.0:0.9213:0.0	.	1522	O15417	TNC18_HUMAN	V	1522;1522;577	ENSP00000382452:A1522V;ENSP00000395538:A1522V	ENSP00000382452:A1522V	A	-	2	0	TNRC18	5367847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.738000	0.62073	2.225000	0.72522	0.561000	0.74099	GCA	.		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5401321	G	A	5401321	3	1	31	1	0	0	0	0	1	0	0	0	16386	1319	46	3	4409	3	TNRC18	7	5401321	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	28915	5401321	153737342	1035	6587											
ICA1	3382	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	8258073	8258074	+	Missense_Mutation	DNP	CC	CC	AA													agccaagtatctgagatggcCcgatgccgaaaagtctccac							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:8258073_8258074CC>AA	ENST00000402384.3	-	6	706_707	c.440_441GG>TT	c.(439-441)cGG>cTT	p.R147L	ICA1_ENST00000265577.7_Missense_Mutation_p.R146L|ICA1_ENST00000422063.2_Missense_Mutation_p.R147L|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000401396.1_Missense_Mutation_p.R135L|ICA1_ENST00000406470.2_Missense_Mutation_p.R147L|ICA1_ENST00000407906.1_Missense_Mutation_p.R147L|ICA1_ENST00000396675.3_Missense_Mutation_p.R147L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	147	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)		CTGAGATGGCCCGATGCCGAAA	0.49																																					p.R147L		.											.	ICA1-515	0			c.G440T						.																																			SO:0001583	missense	3382	exon6			ATGGCCCGATGCC		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.440_441delinsAA	7.37:g.8258073_8258074delinsAA	ENSP00000385570:p.Arg147Leu	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	89	7	NM_022307	0	0	0	0	0	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	DNP	ENST00000402384.3	37	CCDS34602.1																																																																																			.		0.49	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		AA	8258074	CC	AA	8258073	3	1	31	1	0	0	0	0	1	0	0	0	7504	610	22	3	1046	3	ICA1	7	8258073	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	2856752	8258073	150880590	1036	6588											
THSD7A	221981	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	11419313	11419313	+	Missense_Mutation	SNP	C	C	T													gttacaagacctgtcggcatCaggctggctcatcaccaagc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11419313C>T	ENST00000423059.4	-	25	4785	c.4534G>A	c.(4534-4536)Gat>Aat	p.D1512N	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1512					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)		CTGTCGGCATCAGGCTGGCTC	0.458										HNSCC(18;0.044)																											p.D1512N		.											.	THSD7A-71	0			c.G4534A						.						73	72	72					7																	11419313		1999	4155	6154	SO:0001583	missense	221981	exon24			CGGCATCAGGCTG		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.4534G>A	7.37:g.11419313C>T	ENSP00000406482:p.Asp1512Asn	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	86	21	NM_015204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672797	0.47781	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58358	0.34	5.73	5.73	0.89815	.	0.143352	0.64402	D	0.000004	T	0.43787	0.1263	L	0.36672	1.1	0.37374	D	0.911745	B;B	0.30763	0.146;0.294	B;B	0.25759	0.063;0.063	T	0.41538	-0.9503	10	0.14656	T	0.56	.	19.8978	0.96973	0.0:1.0:0.0:0.0	.	1512;1512	Q9UPZ6;C9JL67	THS7A_HUMAN;.	N	1512	ENSP00000406482:D1512N	ENSP00000262042:D1512N	D	-	1	0	THSD7A	11385838	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.857000	0.48349	2.703000	0.92315	0.557000	0.71058	GAT	.		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		T	11419313	C	T	11419313	3	4	31	1	0	0	0	0	1	0	0	0	15926	826	29	3	455	3	THSD7A	7	11419313	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3161240	11419313	147719350	1037	6589	53	2									
THSD7A	221981	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr7	11419314	11419315	+	Missense_Mutation	DNP	AG	AG	CA													ttacaagacctgtcggcatcAggctggctcatcaccaagca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11419314_11419315AG>CA	ENST00000423059.4	-	25	4783_4784	c.4532_4533CT>TG	c.(4531-4533)cCT>cTG	p.P1511L	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1511					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)		TGTCGGCATCAGGCTGGCTCAT	0.46										HNSCC(18;0.044)																											p.P1511L		.											.	THSD7A-71	0			c.C4532T						.																																			SO:0001583	missense	221981	exon24			GCATCAGGCTGGC		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.4532_4533delinsCA	7.37:g.11419314_11419315delinsCA	ENSP00000406482:p.Pro1511Leu	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	86	0	NM_015204	0	0	0	0	0		Missense_Mutation	DNP	ENST00000423059.4	37	CCDS47543.1																																																																																			.		0.46	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		CA	11419315	AG	CA	11419314	3	2	31	1	0	0	0	0	1	0	0	0	15926	175	7	5	456	5	THSD7A	7	11419314	Missense_Mutation	DNP	AG	TCGA-OR-A5KB-01A-11D-A30A-10	1	11419314	147719349	1038	6590	53	2									
THSD7A	221981	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	11581087	11581087	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgaacttgcgtgcctGgaccacactcctttccgtta	7	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11581087G>C	ENST00000423059.4	-	6	2032	c.1781C>G	c.(1780-1782)cCa>cGa	p.P594R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	594					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)		TTGCGTGCCTGGACCACACTC	0.458										HNSCC(18;0.044)																											p.P594R		.											.	THSD7A-71	0			c.C1781G						.						113	112	113					7																	11581087		2019	4172	6191	SO:0001583	missense	221981	exon6			GTGCCTGGACCAC		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.1781C>G	7.37:g.11581087G>C	ENSP00000406482:p.Pro594Arg	Somatic	264	1		WXS	Illumina GAIIx	Phase_I	216	51	NM_015204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547130	0.45383	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58358	0.34	5.38	5.38	0.77491	.	0.049100	0.85682	D	0.000000	T	0.58206	0.2106	L	0.37897	1.145	0.80722	D	1	P	0.48694	0.914	P	0.55871	0.786	T	0.46148	-0.9212	10	0.15066	T	0.55	.	19.5048	0.95111	0.0:0.0:1.0:0.0	.	594	Q9UPZ6	THS7A_HUMAN	R	594	ENSP00000406482:P594R	ENSP00000262042:P594R	P	-	2	0	THSD7A	11547612	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.388000	0.97237	2.678000	0.91216	0.650000	0.86243	CCA	.		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11581087	G	C	11581087	3	2	31	1	0	0	0	0	1	0	0	0	15926	1348	47	3	3280	3	THSD7A	7	11581087	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	161773	11581087	147557576	1039	6591											
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	11676331	11676331	+	Frame_Shift_Del	DEL	C	C	-													cctcacctgaataccttcttCccccttaatgcactcaagag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11676331delC	ENST00000423059.4	-	2	699	c.448delG	c.(448-450)gaafs	p.E151fs	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	151					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)		ATACCTTCTTCCCCCTTAATG	0.483										HNSCC(18;0.044)																											p.E150fs		.											.	THSD7A-71	0			c.448delG						.						107	103	104					7																	11676331		1973	4176	6149	SO:0001589	frameshift_variant	221981	exon2			CTTCTTCCCCCTT		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.448delG	7.37:g.11676331delC	ENSP00000406482:p.Glu151fs	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	71	13	NM_015204	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000423059.4	37	CCDS47543.1																																																																																			.		0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		-	11676331	C	-	11676331	7	5	31	1	0	1	0	1	0	0	0	0	15926	864	30	0	4629	0	THSD7A	7	11676331	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	95244	11676331	147462332	1040	6592											
DGKB	1607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	14661070	14661070	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattcttgtcaatcactttgTttggctgctgggaaccactc	8	10	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:14661070T>A	ENST00000403951.2	-	15	1639	c.1220A>T	c.(1219-1221)aAc>aTc	p.N407I	DGKB_ENST00000258767.5_Missense_Mutation_p.N407I|DGKB_ENST00000444700.2_Missense_Mutation_p.N388I|DGKB_ENST00000399322.3_Missense_Mutation_p.N407I|DGKB_ENST00000402815.1_Missense_Mutation_p.N406I|DGKB_ENST00000407950.1_Missense_Mutation_p.N399I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.N407I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	407					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						AATCACTTTGTTTGGCTGCTG	0.308																																					p.N407I		.											.	DGKB-276	0			c.A1220T						.						141	123	128					7																	14661070		1831	4082	5913	SO:0001583	missense	1607	exon14			ACTTTGTTTGGCT	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.1220A>T	7.37:g.14661070T>A	ENSP00000385780:p.Asn407Ile	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	34	9	NM_145695	0	0	0	0	0	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906759	0.33628	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.23;-1.23;-1.23;-1.24;-1.24;-1.22;-1.32	4.86	4.86	0.63082	.	0.165860	0.40064	N	0.001189	T	0.77798	0.4184	L	0.58101	1.795	0.40058	D	0.975863	B;B;B;B	0.11235	0.001;0.0;0.001;0.004	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.75363	-0.3344	10	0.44086	T	0.13	.	14.7365	0.69419	0.0:0.0:0.0:1.0	.	406;388;407;407	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	I	407;407;407;406;399;388;407	ENSP00000385780:N407I;ENSP00000382260:N407I;ENSP00000258767:N407I;ENSP00000384909:N406I;ENSP00000385031:N399I;ENSP00000388451:N388I;ENSP00000386066:N407I	ENSP00000258767:N407I	N	-	2	0	DGKB	14627595	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	3.045000	0.49838	1.943000	0.56356	0.260000	0.18958	AAC	.		0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14661070	T	A	14661070	3	1	31	1	0	0	0	0	1	0	0	0	4480	1725	60	5	1257	5	DGKB	7	14661070	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2984739	14661070	144477593	1041	6593											
DGKB	1607	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	14775769	14775769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatcatcaggaagctcGgcttccaggaatgtcttcat	10	9	4	1	rs10238323	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:14775769G>T	ENST00000403951.2	-	5	638	c.219C>A	c.(217-219)gcC>gcA	p.A73A	DGKB_ENST00000258767.5_Silent_p.A73A|DGKB_ENST00000444700.2_Silent_p.A66A|DGKB_ENST00000399322.3_Silent_p.A73A|DGKB_ENST00000402815.1_Silent_p.A73A|DGKB_ENST00000407950.1_Silent_p.A66A|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.A73A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	73					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						CAGGAAGCTCGGCTTCCAGGA	0.353																																					p.A73A		.											.	DGKB-276	0			c.C219A						.						58	57	57					7																	14775769		1827	4091	5918	SO:0001819	synonymous_variant	1607	exon4			AAGCTCGGCTTCC	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.219C>A	7.37:g.14775769G>T		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	104	22	NM_145695	0	0	0	0	0	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																			G|0.984;A|0.016		0.353	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		T	14775769	G	T	14775769	2	4	31	1	0	0	0	0	0	0	0	1	4480	1103	39	2		2	DGKB	7	14775769	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	114699	14775769	144362894	1042	6594											
HDAC9	9734	hgsc.bcm.edu;bcgsc.ca	37	chr7	18869083	18869083	+	Splice_Site	DEL	G	G	-													ctgttcttctctattccgcaGggggttctgcttttttaatt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:18869083delG	ENST00000432645.2	+	18	2369		c.e18-1		HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site|HDAC9_ENST00000441542.2_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						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)	CTATTCCGCAGGGGGTTCTGC	0.333																																					.		.											.	HDAC9-227	0			c.2370-1G>-						.						82	76	78					7																	18869083		1812	4084	5896	SO:0001630	splice_region_variant	9734	exon19			TCCGCAGGGGGTT	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.2370-1G>-	7.37:g.18869083delG		Somatic	54	1		WXS	Illumina GAIIx	Phase_I	33	14	NM_178423	0	0	0	0	0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	DEL	ENST00000432645.2	37	CCDS47555.1																																																																																			.		0.333	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Intron	-	18869083	G	-	18869083	8	5	31	1	0	1	0	1	0	0	1	0	7041	1014	35	0	2499	0	HDAC9	7	18869083	Splice_Site	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	4093314	18869083	140269580	1043	6595											
TMEM196	256130	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	19765212	19765212	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgttcataactggcTagtcgacaagtgagccagga	10	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:19765212T>A	ENST00000405764.3	-	3	1080	c.384A>T	c.(382-384)ctA>ctT	p.L128L	TMEM196_ENST00000493519.1_Silent_p.L60L|TMEM196_ENST00000405844.1_Silent_p.L128L|TMEM196_ENST00000422233.1_Silent_p.L60L|TMEM196_ENST00000433641.1_Silent_p.L60L	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	134						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CATAACTGGCTAGTCGACAAG	0.502																																					p.L128L		.											.	TMEM196-22	0			c.A384T						.						83	74	77					7																	19765212		2203	4300	6503	SO:0001819	synonymous_variant	256130	exon3			ACTGGCTAGTCGA		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.384A>T	7.37:g.19765212T>A		Somatic	220	1		WXS	Illumina GAIIx	Phase_I	153	49	NM_152774	0	0	0	0	0	Q8N6I6	Silent	SNP	ENST00000405764.3	37	CCDS34607.2																																																																																			.		0.502	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		A	19765212	T	A	19765212	2	1	31	1	0	0	0	0	0	0	0	1	16165	1509	53	5		5	TMEM196	7	19765212	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	896129	19765212	139373451	1044	6596											
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20444293	20444293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagatgccaatgcttcagtgGctgggaaggtgatcgatgcc	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:20444293G>C	ENST00000222573.4	+	11	2414	c.1730G>C	c.(1729-1731)gGc>gCc	p.G577A	ITGB8_ENST00000537992.1_Missense_Mutation_p.G442A	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	577	Cysteine-rich tandem repeats.				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						TGCTTCAGTGGCTGGGAAGGT	0.532																																					p.G577A		.											.	ITGB8-227	0			c.G1730C						.						116	95	102					7																	20444293		2203	4300	6503	SO:0001583	missense	3696	exon11			TCAGTGGCTGGGA		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.1730G>C	7.37:g.20444293G>C	ENSP00000222573:p.Gly577Ala	Somatic	223	0		WXS	Illumina GAIIx	Phase_I	152	36	NM_002214	0	0	0	0	0	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585402	0.86748	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97114	-4.25;-4.25	5.77	5.77	0.91146	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.070566	0.64402	D	0.000014	D	0.98242	0.9418	M	0.90082	3.085	0.53005	D	0.999966	D	0.56746	0.977	P	0.59703	0.862	D	0.98316	1.0526	10	0.87932	D	0	.	11.7466	0.51823	0.0684:0.125:0.8066:0.0	.	577	P26012	ITB8_HUMAN	A	442;577	ENSP00000441561:G442A;ENSP00000222573:G577A	ENSP00000222573:G577A	G	+	2	0	ITGB8	20410818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.947000	0.63583	2.890000	0.99128	0.650000	0.86243	GGC	.		0.532	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		C	20444293	G	C	20444293	3	2	31	1	0	0	0	0	1	0	0	0	7928	1203	42	3	1772	3	ITGB8	7	20444293	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	679081	20444293	138694370	1045	6597											
SP8	221833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	20824578	20824578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggctgagcaggtgcgaGgaggcgccgctgctgaaggc	21	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:20824578G>A	ENST00000361443.4	-	3	1041	c.804C>T	c.(802-804)tcC>tcT	p.S268S	SP8_ENST00000418710.2_Silent_p.S286S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	268					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCAGGTGCGAGGAGGCGCCGC	0.716																																					p.S286S		.											.	SP8-91	0			c.C858T						.						4	4	4					7																	20824578		1762	3628	5390	SO:0001819	synonymous_variant	221833	exon2			GTGCGAGGAGGCG		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.804C>T	7.37:g.20824578G>A		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	30	6	NM_182700	0	0	0	0	0	Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																			.		0.716	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			A	20824578	G	A	20824578	2	1	31	1	0	0	0	0	0	0	0	1	15015	987	35	3		3	SP8	7	20824578	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	380285	20824578	138314085	1046	6598											
DNAH11	8701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	21789958	21789958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgttggaaattctttatGgccagggtgcgactacagct	11	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:21789958G>T	ENST00000409508.3	+	54	8947	c.8916G>T	c.(8914-8916)atG>atT	p.M2972I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2979I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2979	AAA 4. {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						AATTCTTTATGGCCAGGGTGC	0.388									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						57	55	56					7																	21789958		1874	4104	5978	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CTTTATGGCCAGG	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.8916G>T	7.37:g.21789958G>T	ENSP00000475939:p.Met2972Ile	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	60	11	.	0	0	0	0	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	0.603	-0.828327	0.02734	.	.	ENSG00000105877	ENST00000328843	T	0.31247	1.5	5.91	4.11	0.48088	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	1.768260	0.05443	U	0.548026	T	0.13586	0.0329	.	.	.	0.20638	N	0.999872	B	0.02656	0.0	B	0.06405	0.002	T	0.26360	-1.0105	9	0.02654	T	1	.	6.8428	0.23973	0.1978:0.0:0.6715:0.1306	.	2979	Q96DT5	DYH11_HUMAN	I	2979	ENSP00000330671:M2979I	ENSP00000330671:M2979I	M	+	3	0	DNAH11	21756483	0.998000	0.40836	0.988000	0.46212	0.713000	0.41058	0.518000	0.22847	1.506000	0.48736	0.655000	0.94253	ATG	.		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21789958	G	T	21789958	3	4	31	1	0	0	0	0	1	0	0	0	4613	1348	47	3	9152	3	DNAH11	7	21789958	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	965380	21789958	137348705	1047	6599											
IGF2BP3	10643	ucsc.edu;bcgsc.ca	37	chr7	23390952	23390952	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtctgtttggtgatgttccGaatggtggcaccttcttttc	12	8	2	1	rs274055	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:23390952G>T	ENST00000258729.3	-	6	1011	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	219	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTGATGTTCCGAATGGTGGCA	0.483													G|||	257	0.0513179	0.0794	0.0533	5008	,	,		18677	0.0089		0.0149	False		,,,				2504	0.093				p.R219R		.											.	IGF2BP3-92	0			c.C655A						.	G		332,4074	172.3+/-202.3	20,292,1891	122	109	113		655	5.9	1	7	dbSNP_79	113	186,8414	83.1+/-145.7	0,186,4114	no	coding-synonymous	IGF2BP3	NM_006547.2		20,478,6005	TT,TG,GG		2.1628,7.5352,3.9828		219/580	23390952	518,12488	2203	4300	6503	SO:0001819	synonymous_variant	10643	exon6			TGTTCCGAATGGT	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.655C>A	7.37:g.23390952G>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	105	25	NM_006547	0	0	0	0	0	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																			G|1.000;|0.000		0.483	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		T	23390952	G	T	23390952	2	4	31	1	0	0	0	0	0	0	0	1	7602	1057	37	2		2	IGF2BP3	7	23390952	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1600994	23390952	135747711	1048	6600											
DFNA5	1687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	24789190	24789190	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaggaaacatacctggactCggaaattggtcttctatgag	10	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:24789190C>A	ENST00000342947.3	-	2	629	c.204G>T	c.(202-204)ccG>ccT	p.P68P	DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409775.3_Silent_p.P68P|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	68					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TACCTGGACTCGGAAATTGGT	0.423																																					p.P68P	GBM(78;184 1250 20134 20900 23600)	.											.	DFNA5-91	0			c.G204T						.						123	133	130					7																	24789190		2203	4300	6503	SO:0001819	synonymous_variant	1687	exon2			TGGACTCGGAAAT	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.204G>T	7.37:g.24789190C>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	32	7	NM_001127453	0	0	0	0	0	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																			.		0.423	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		A	24789190	C	A	24789190	2	1	31	1	0	0	0	0	0	0	0	1	4468	871	31	2		2	DFNA5	7	24789190	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1398238	24789190	134349473	1049	6601											
C7orf31	136895	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	25182373	25182373	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttaaagaagtgttaggagCgaaggttttaggaggttttg	14	1	0	1	rs17150982	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:25182373C>G	ENST00000409280.1	-	8	1053	c.745G>C	c.(745-747)Gct>Cct	p.A249P	C7orf31_ENST00000283905.3_Missense_Mutation_p.A249P			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	249			A -> T (in dbSNP:rs17150982).							autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTGTTAGGAGCGAAGGTTTTA	0.398																																					p.A249P		.											.	C7orf31-90	0			c.G745C						.						91	96	94					7																	25182373		2203	4300	6503	SO:0001583	missense	136895	exon8			TAGGAGCGAAGGT	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.745G>C	7.37:g.25182373C>G	ENSP00000386604:p.Ala249Pro	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	58	17	NM_138811	0	0	0	0	0	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356759	0.82243	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.09817	2.94;2.94	5.51	5.51	0.81932	.	0.194556	0.36268	N	0.002686	T	0.33411	0.0862	M	0.67953	2.075	0.43218	D	0.995091	D	0.89917	1.0	D	0.91635	0.999	T	0.01030	-1.1475	10	0.52906	T	0.07	-18.103	18.1612	0.89708	0.0:1.0:0.0:0.0	.	249	Q8N865	CG031_HUMAN	P	249	ENSP00000386604:A249P;ENSP00000283905:A249P	ENSP00000283905:A249P	A	-	1	0	C7orf31	25148898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.615000	0.46368	2.594000	0.87642	0.484000	0.47621	GCT	C|0.971;T|0.029		0.398	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		G	25182373	C	G	25182373	3	3	31	1	0	0	0	0	1	0	0	0	2394	768	27	2	1039	2	C7orf31	7	25182373	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	393183	25182373	133956290	1050	6602											
HOXA3	3200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	27148164	27148164	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctggaaccagatcttgatCtggcgctcagtgaggttcag	12	9	5	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:27148164C>A	ENST00000396352.4	-	3	901	c.702G>T	c.(700-702)caG>caT	p.Q234H	HOXA3_ENST00000317201.2_Missense_Mutation_p.Q234H|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	234					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATCTTGATCTGGCGCTCAG	0.587																																					p.Q234H	Esophageal Squamous(136;1368 1743 5685 7935 50360)	.											.	HOXA3-153	0			c.G702T						.						147	130	136					7																	27148164		2203	4300	6503	SO:0001583	missense	3200	exon3			CTTGATCTGGCGC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.702G>T	7.37:g.27148164C>A	ENSP00000379640:p.Gln234His	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	93	17	NM_030661	0	0	0	0	0	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223648	0.39300	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.97114	-4.25;-4.25	4.85	3.97	0.46021	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.113620	0.64402	D	0.000007	D	0.98086	0.9369	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98306	1.0521	10	0.87932	D	0	.	9.6804	0.40067	0.0:0.8424:0.0:0.1576	.	234	O43365	HXA3_HUMAN	H	234;234;76	ENSP00000379640:Q234H;ENSP00000324884:Q234H	ENSP00000324884:Q234H	Q	-	3	2	HOXA3	27114689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.280000	0.51677	1.269000	0.44280	-0.150000	0.13652	CAG	.		0.587	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			A	27148164	C	A	27148164	3	1	31	1	0	0	0	0	1	0	0	0	7320	912	32	3	633	3	HOXA3	7	27148164	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1965791	27148164	131990499	1051	6603											
EVX1	2128	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	27283071	27283071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgccgagtaccagcacaGcaaaggtagccaccgtgccc	11	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:27283071G>A	ENST00000496902.4	+	1	908	c.422G>A	c.(421-423)aGc>aAc	p.S141N	EVX1-AS_ENST00000519218.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	141					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TACCAGCACAGCAAAGGTAGC	0.657																																					p.S141N		.											.	EVX1-91	0			c.G422A						.						20	21	21					7																	27283071		2188	4277	6465	SO:0001583	missense	2128	exon1			AGCACAGCAAAGG		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.422G>A	7.37:g.27283071G>A	ENSP00000419266:p.Ser141Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	72	15	NM_001989	0	0	0	0	0	A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999339	0.19121	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.142200	0.64402	D	0.000008	D	0.85957	0.5818	L	0.35414	1.06	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.80750	-0.1243	10	0.16896	T	0.51	-22.6836	19.1196	0.93357	0.0:0.0:1.0:0.0	.	141	P49640	EVX1_HUMAN	N	141	ENSP00000419266:S141N	ENSP00000419266:S141N	S	+	2	0	EVX1	27249596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.615000	0.54167	2.521000	0.84997	0.561000	0.74099	AGC	.		0.657	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			A	27283071	G	A	27283071	3	1	31	1	0	0	0	0	1	0	0	0	5310	971	34	3	424	3	EVX1	7	27283071	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	134907	27283071	131855592	1052	6604											
CREB5	9586	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	28610012	28610012	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcataatgcagttggtggGgccatgacggggcccggaac	16	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:28610012G>T	ENST00000357727.2	+	5	711	c.321G>T	c.(319-321)ggG>ggT	p.G107G	CREB5_ENST00000396299.2_Silent_p.G74G|CREB5_ENST00000396300.2_Silent_p.G100G|CREB5_ENST00000409603.1_Silent_p.G74G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	107					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGTTGGTGGGGCCATGACGG	0.537																																					p.G107G		.											.	CREB5-92	0			c.G321T						.						87	82	84					7																	28610012		2203	4300	6503	SO:0001819	synonymous_variant	9586	exon5			TGGTGGGGCCATG	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.321G>T	7.37:g.28610012G>T		Somatic	290	2		WXS	Illumina GAIIx	Phase_I	203	72	NM_182898	0	0	0	0	0	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	CCDS5417.1																																																																																			.		0.537	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		T	28610012	G	T	28610012	2	4	31	1	0	0	0	0	0	0	0	1	3867	1219	43	3		3	CREB5	7	28610012	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1326941	28610012	130528651	1053	6605											
NEUROD6	63974	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	31377995	31377995	+	Frame_Shift_Del	DEL	G	G	-													ccctgcccaaggggacccctGggtggcactgcacagtaatg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:31377995delG	ENST00000297142.3	-	2	1210	c.888delC	c.(886-888)cccfs	p.P296fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	296					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGACCCCTGGGTGGCACTG	0.488																																					p.P296fs		.											.	NEUROD6-92	0			c.888delC						.						87	88	87					7																	31377995		2203	4300	6503	SO:0001589	frameshift_variant	63974	exon2			ACCCCTGGGTGGC	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.888delC	7.37:g.31377995delG	ENSP00000297142:p.Pro296fs	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	101	22	NM_022728	0	0	0	0	0	Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	CCDS5434.1																																																																																			.		0.488	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		-	31377995	G	-	31377995	7	5	31	1	0	1	0	1	0	0	0	0	10390	1335	47	0	129	0	NEUROD6	7	31377995	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	2767983	31377995	127760668	1054	6606											
BMPER	168667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	34006114	34006114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacctatgaaggaaataccTataacagctccttcaaatgg	7	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:34006114T>C	ENST00000297161.2	+	5	717	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	BMPER_ENST00000426693.1_Missense_Mutation_p.Y115H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	115	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGAAATACCTATAACAGCTC	0.448																																					p.Y115H		.											.	BMPER-92	0			c.T343C						.						87	88	87					7																	34006114		2203	4300	6503	SO:0001583	missense	168667	exon5			AATACCTATAACA		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.343T>C	7.37:g.34006114T>C	ENSP00000297161:p.Tyr115His	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	50	11	NM_133468	0	0	0	0	0	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776887	0.70107	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.69806	-0.43;-0.43	5.87	5.87	0.94306	von Willebrand factor, type C (1);	0.058405	0.64402	D	0.000001	T	0.62146	0.2404	L	0.41906	1.305	0.58432	D	0.999999	P	0.47350	0.894	B	0.43950	0.437	T	0.60464	-0.7258	10	0.28530	T	0.3	.	16.2676	0.82597	0.0:0.0:0.0:1.0	.	115	Q8N8U9	BMPER_HUMAN	H	115	ENSP00000297161:Y115H;ENSP00000393950:Y115H	ENSP00000297161:Y115H	Y	+	1	0	BMPER	33972639	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	5.077000	0.64419	2.243000	0.73865	0.533000	0.62120	TAT	.		0.448	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		C	34006114	T	C	34006114	3	2	31	1	0	0	0	0	1	0	0	0	1470	1522	53	4	357	4	BMPER	7	34006114	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2628119	34006114	125132549	1055	6607											
BMPER	168667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	34125628	34125628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtaaagctccgggccCatcgagaatgccaaaagctc	10	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:34125628C>A	ENST00000297161.2	+	14	2043	c.1669C>A	c.(1669-1671)Cat>Aat	p.H557N	BMPER_ENST00000426693.1_Missense_Mutation_p.H557N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	557	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTCCGGGCCCATCGAGAATG	0.517																																					p.H557N		.											.	BMPER-92	0			c.C1669A						.						113	112	112					7																	34125628		2203	4300	6503	SO:0001583	missense	168667	exon14			CGGGCCCATCGAG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1669C>A	7.37:g.34125628C>A	ENSP00000297161:p.His557Asn	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	117	20	NM_133468	0	0	0	0	0	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384356	0.82792	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.75821	-0.97;-0.97	6.08	6.08	0.98989	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	N	0.17674	0.51	0.80722	D	1	P	0.35944	0.529	B	0.43052	0.406	T	0.65117	-0.6246	10	0.29301	T	0.29	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	557	Q8N8U9	BMPER_HUMAN	N	557	ENSP00000297161:H557N;ENSP00000393950:H557N	ENSP00000297161:H557N	H	+	1	0	BMPER	34092153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.280000	0.78610	2.894000	0.99253	0.655000	0.94253	CAT	.		0.517	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		A	34125628	C	A	34125628	3	1	31	1	0	0	0	0	1	0	0	0	1470	594	21	3	1719	3	BMPER	7	34125628	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	119514	34125628	125013035	1056	6608											
AOAH	313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	36726385	36726385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctgttctattacagacaCcaccagcacacaccctgcca	5	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:36726385C>A	ENST00000258749.5	-	2	541	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	AOAH_ENST00000535891.1_Intron|AOAH_ENST00000431169.1_Missense_Mutation_p.V48L	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	48	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTACAGACACCACCAGCACA	0.512																																					p.V48L		.											.	AOAH-91	0			c.G142T						.						136	111	119					7																	36726385		2203	4300	6503	SO:0001583	missense	313	exon2			CAGACACCACCAG	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.142G>T	7.37:g.36726385C>A	ENSP00000258749:p.Val48Leu	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	137	48	NM_001637	0	0	0	0	0	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	7.567	0.665951	0.14710	.	.	ENSG00000136250	ENST00000258749;ENST00000431169;ENST00000544647	D;D	0.87179	-2.22;-2.22	5.48	0.261	0.15592	Saposin-like (2);Saposin B (2);	0.176183	0.38605	N	0.001632	T	0.75019	0.3793	.	.	.	0.80722	D	1	B;B	0.22851	0.076;0.007	B;B	0.15052	0.012;0.004	T	0.58329	-0.7655	9	0.27082	T	0.32	.	5.9811	0.19407	0.0:0.5298:0.251:0.2192	.	48;48	C9J8T1;P28039	.;AOAH_HUMAN	L	48	ENSP00000258749:V48L;ENSP00000405683:V48L	ENSP00000258749:V48L	V	-	1	0	AOAH	36692910	0.809000	0.29036	0.426000	0.26672	0.270000	0.26580	0.152000	0.16302	-0.158000	0.11040	-0.136000	0.14681	GTG	.		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		A	36726385	C	A	36726385	3	1	31	1	0	0	0	0	1	0	0	0	726	507	18	3	2006	3	AOAH	7	36726385	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2600757	36726385	122412278	1057	6609											
ELMO1	9844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	37298802	37298802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactcagtgccgctctccaCcatctgcgtgaggagagaga	11	12	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:37298802C>A	ENST00000310758.4	-	6	1044	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	ELMO1_ENST00000448602.1_Missense_Mutation_p.V133L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V133L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	133					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						CCGCTCTCCACCATCTGCGTG	0.517																																					p.V133L		.											.	ELMO1-96	0			c.G397T						.						52	50	51					7																	37298802		2203	4300	6503	SO:0001583	missense	9844	exon6			TCTCCACCATCTG	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.397G>T	7.37:g.37298802C>A	ENSP00000312185:p.Val133Leu	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	84	29	NM_014800	0	0	0	0	0	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142351	0.94560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	T	0.30179	-0.9987	10	0.34782	T	0.22	.	19.5605	0.95369	0.0:1.0:0.0:0.0	.	133	Q92556	ELMO1_HUMAN	L	133;37;133;133;133;133	ENSP00000312185:V133L;ENSP00000406952:V133L;ENSP00000394458:V133L;ENSP00000406610:V133L;ENSP00000416090:V133L	ENSP00000312185:V133L	V	-	1	0	ELMO1	37265327	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.818000	0.86416	2.713000	0.92767	0.591000	0.81541	GTG	.		0.517	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	37298802	C	A	37298802	3	1	31	1	0	0	0	0	1	0	0	0	5081	507	18	3	1854	3	ELMO1	7	37298802	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	572417	37298802	121839861	1058	6610											
POU6F2	11281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr7	39379343	39379343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcaaccaaccagcaccCgcaaccagccccacaggcgc	7	22	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:39379343C>A	ENST00000403058.1	+	6	768	c.614C>A	c.(613-615)cCg>cAg	p.P205Q	POU6F2_ENST00000518318.2_Missense_Mutation_p.P205Q|POU6F2_ENST00000559001.1_Missense_Mutation_p.P197Q|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	205	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACCAGCACCCGCAACCAGCC	0.697																																					p.P205Q		.											.	POU6F2-90	0			c.C614A						.																																			SO:0001583	missense	11281	exon6			AGCACCCGCAACC	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.614C>A	7.37:g.39379343C>A	ENSP00000384004:p.Pro205Gln	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	23	6	NM_007252	0	0	0	0	0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608656	0.14002	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.84800	1.06;-1.9	4.59	4.59	0.56863	.	1.615480	0.04887	N	0.448800	T	0.71896	0.3394	N	0.04959	-0.14	0.22127	N	0.999348	B;B	0.24368	0.102;0.001	B;B	0.22152	0.038;0.001	T	0.58323	-0.7656	10	0.15066	T	0.55	.	10.1952	0.43049	0.199:0.801:0.0:0.0	.	205;205	P78424-2;P78424	.;PO6F2_HUMAN	Q	205	ENSP00000384004:P205Q;ENSP00000430514:P205Q	ENSP00000384004:P205Q	P	+	2	0	POU6F2	39345868	0.910000	0.30920	0.681000	0.30009	0.252000	0.25951	1.850000	0.39328	2.092000	0.63282	0.557000	0.71058	CCG	.		0.697	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		A	39379343	C	A	39379343	3	1	31	1	0	0	0	0	1	0	0	0	12324	652	23	2	632	2	POU6F2	7	39379343	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2080541	39379343	119759320	1059	6611											
C7orf11	136647	hgsc.bcm.edu	37	chr7	40174042	40174042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcggactcccgtacccgtctCgaggggagggcggccgtggt	18	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:40174042C>A	ENST00000306984.6	-	1	216	c.125G>T	c.(124-126)cGa>cTa	p.R42L	C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000335693.4_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	42					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											GTACCCGTCTCGAGGGGAGGG	0.731																																					p.R42L		.											.	.	0			c.G125T						.						3	4	4					7																	40174042		1909	3886	5795	SO:0001583	missense	136647	exon1			CCGTCTCGAGGGG	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"chromosome 7 open reading frame 11"	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.125G>T	7.37:g.40174042C>A	ENSP00000304553:p.Arg42Leu	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	62	16	NM_138701	0	0	0	0	0		Missense_Mutation	SNP	ENST00000306984.6	37	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963752	0.74016	.	.	ENSG00000168303	ENST00000306984	T	0.78924	-1.22	5.18	4.31	0.51392	.	0.397351	0.24447	N	0.038453	T	0.67869	0.2939	L	0.47716	1.5	0.37855	D	0.929521	P	0.46064	0.872	B	0.38264	0.269	T	0.69105	-0.5233	10	0.28530	T	0.3	-28.0936	11.0745	0.48023	0.0:0.9157:0.0:0.0843	.	42	Q8TAP9	TTDN1_HUMAN	L	42	ENSP00000304553:R42L	ENSP00000304553:R42L	R	-	2	0	C7orf11	40140567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.653000	0.46691	1.416000	0.47057	0.655000	0.94253	CGA	.		0.731	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		A	40174042	C	A	40174042	3	1	31	1	0	0	0	0	1	0	0	0	2384	884	31	2	422	2	C7orf11	7	40174042	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	794699	40174042	118964621	1060	6612											
INHBA	3624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	41739811	41739811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttgacggcctccacCatctctggctgagagttggg	12	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:41739811C>A	ENST00000242208.4	-	2	408	c.162G>T	c.(160-162)atG>atT	p.M54I	INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.M54I|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	54					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						CGGCCTCCACCATCTCTGGCT	0.622										TSP Lung(11;0.080)																											p.M54I		.											.	INHBA-703	0			c.G162T						.						199	214	209					7																	41739811		2203	4300	6503	SO:0001583	missense	3624	exon2			CTCCACCATCTCT		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.162G>T	7.37:g.41739811C>A	ENSP00000242208:p.Met54Ile	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	42	15	NM_002192	0	0	0	0	0	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982660	0.74474	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.63913	-0.07;-0.07	5.49	4.6	0.57074	Transforming growth factor-beta, N-terminal (1);	0.042319	0.85682	N	0.000000	T	0.67618	0.2912	L	0.61218	1.895	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.67150	-0.5743	10	0.33940	T	0.23	-29.0818	15.6547	0.77124	0.1383:0.8617:0.0:0.0	.	54	P08476	INHBA_HUMAN	I	54	ENSP00000242208:M54I;ENSP00000397197:M54I	ENSP00000242208:M54I	M	-	3	0	INHBA	41706336	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.772000	0.68889	1.295000	0.44724	-0.182000	0.12963	ATG	C|1.000;A|0.000		0.622	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			A	41739811	C	A	41739811	3	1	31	1	0	0	0	0	1	0	0	0	7768	594	21	3	1126	3	INHBA	7	41739811	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1565769	41739811	117398852	1061	6613											
NPC1L1	29881	bcgsc.ca	37	chr7	44579180	44579180	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccaggtagaaggtggagtcGagggcctgggggcgggctat	20	8	0	1	rs2072183	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:44579180G>C	ENST00000289547.4	-	2	871	c.816C>G	c.(814-816)ctC>ctG	p.L272L	NPC1L1_ENST00000381160.3_Silent_p.L272L|NPC1L1_ENST00000546276.1_Silent_p.L272L|NPC1L1_ENST00000423141.1_Silent_p.L272L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	272					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGTGGAGTCGAGGGCCTGGG	0.612													C|||	1238	0.247204	0.1952	0.245	5008	,	,		20275	0.374		0.2336	False		,,,				2504	0.2025				p.L272L		.											.	NPC1L1-94	0			c.C816G						.	C	,	971,3435		108,755,1340	50	54	53	http://www.ncbi.nlm.nih.gov/pubmed?term	816,816	4	0.4	7	dbSNP_96	53	1928,6672		234,1460,2606	yes	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	342,2215,3946	CC,CG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	22.4186,22.0381,22.2897	,	272/1333,272/1360	44579180	2899,10107	2203	4300	6503	SO:0001819	synonymous_variant	29881	exon2			GGAGTCGAGGGCC		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.816C>G	7.37:g.44579180G>C		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_001101648	0	0	0	0	0	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																			G|0.644;C|0.356;A|0.000		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		C	44579180	G	C	44579180	2	2	31	1	0	0	0	0	0	0	0	1	10610	1045	37	2		2	NPC1L1	7	44579180	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2839369	44579180	114559483	1062	6614											
RAMP3	10268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45222995	45222995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggcgcagcaaacgcaCcgacacgctgctgtgagggt	16	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45222995C>G	ENST00000242249.4	+	3	469	c.431C>G	c.(430-432)aCc>aGc	p.T144S	RAMP3_ENST00000496212.1_Missense_Mutation_p.T144S|RAMP3_ENST00000481345.1_Missense_Mutation_p.T144S	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	144					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)	AGCAAACGCACCGACACGCTG	0.622																																					p.T144S		.											.	RAMP3-90	0			c.C431G						.						101	93	96					7																	45222995		2203	4300	6503	SO:0001583	missense	10268	exon3			AACGCACCGACAC	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.431C>G	7.37:g.45222995C>G	ENSP00000242249:p.Thr144Ser	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	100	29	NM_005856	0	0	0	0	0	Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	C	1.404	-0.577326	0.03854	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.41758	0.99;0.99;0.99	4.37	2.15	0.27550	.	0.482478	0.23347	N	0.049165	T	0.19565	0.0470	N	0.20685	0.6	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.28170	-1.0052	10	0.02654	T	1	-17.8864	5.898	0.18949	0.2406:0.4004:0.3591:0.0	.	144	O60896	RAMP3_HUMAN	S	144	ENSP00000242249:T144S;ENSP00000419012:T144S;ENSP00000418460:T144S	ENSP00000242249:T144S	T	+	2	0	RAMP3	45189520	0.994000	0.37717	0.001000	0.08648	0.004000	0.04260	2.084000	0.41625	0.734000	0.32515	0.655000	0.94253	ACC	.		0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		G	45222995	C	G	45222995	3	3	31	1	0	0	0	0	1	0	0	0	13068	507	18	3	441	3	RAMP3	7	45222995	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	643815	45222995	113915668	1063	6615											
ADCY1	107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45697346	45697347	+	Missense_Mutation	DNP	AG	AG	GA													atctgtggctgaagccaccgAggtggatctgaacatgcgtg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45697346_45697347AG>GA	ENST00000297323.7	+	6	1191_1192	c.1169_1170AG>GA	c.(1168-1170)gAG>gGA	p.E390G	ADCY1_ENST00000432715.1_Missense_Mutation_p.E165G	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	390					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAGCCACCGAGGTGGATCTGA	0.609																																					p.E390G		.											.	ADCY1-95	0			c.G1170A						.																																			SO:0001583	missense	107	exon6			CACCGAGGTGGAT	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	Exception_encountered	7.37:g.45697346_45697347delinsGA	ENSP00000297323:p.Glu390Gly	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	136	0	NM_021116	0	0	0	0	0	A4D2L8|Q75MI1	Missense_Mutation	DNP	ENST00000297323.7	37	CCDS34631.1																																																																																			.		0.609	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		GA	45697347	AG	GA	45697346	3	3	31	1	0	0	0	0	1	0	0	0	292	304	11	4	1191	4	ADCY1	7	45697346	Missense_Mutation	DNP	AG	TCGA-OR-A5KB-01A-11D-A30A-10	474351	45697346	113441317	1064	6616											
ADCY1	107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45753294	45753294	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acttctctccatcaacaggtGactgaggaagtccaccggct	9	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45753294G>T	ENST00000297323.7	+	20	3082	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1020					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATCAACAGGTGACTGAGGAAG	0.532																																					p.V1020V		.											.	ADCY1-95	0			c.G3060T						.						61	60	61					7																	45753294		2203	4300	6503	SO:0001819	synonymous_variant	107	exon20			ACAGGTGACTGAG	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3060G>T	7.37:g.45753294G>T		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	140	43	NM_021116	0	0	0	0	0	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																			.		0.532	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		T	45753294	G	T	45753294	2	4	31	1	0	0	0	0	0	0	0	1	292	1277	45	3		3	ADCY1	7	45753294	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	55948	45753294	113385369	1065	6617											
IGFBP1	3484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45932578	45932578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgtgagacatccatggatgGagaggcgggactctgctggt	17	7	1	2	rs201339143		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45932578G>T	ENST00000275525.3	+	4	964	c.668G>T	c.(667-669)gGa>gTa	p.G223V	IGFBP1_ENST00000457280.1_Missense_Mutation_p.G221V|IGFBP1_ENST00000468955.1_Missense_Mutation_p.G180V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	223	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TCCATGGATGGAGAGGCGGGA	0.517																																					p.G223V		.											.	IGFBP1-946	0			c.G668T						.						82	78	79					7																	45932578		2203	4300	6503	SO:0001583	missense	3484	exon4			TGGATGGAGAGGC		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.668G>T	7.37:g.45932578G>T	ENSP00000275525:p.Gly223Val	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	53	15	NM_000596	0	0	0	0	0	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382723	0.42207	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.65916	-0.18;-0.18;-0.18	5.74	4.86	0.63082	Thyroglobulin type-1 (6);	0.049569	0.85682	D	0.000000	T	0.80210	0.4581	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.83178	-0.0090	10	0.72032	D	0.01	-35.7427	12.7027	0.57043	0.0805:0.0:0.9195:0.0	.	180;223;221	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	V	223;221;180	ENSP00000275525:G223V;ENSP00000413511:G221V;ENSP00000417069:G180V	ENSP00000275525:G223V	G	+	2	0	IGFBP1	45899103	1.000000	0.71417	0.016000	0.15963	0.007000	0.05969	5.180000	0.65048	1.427000	0.47276	0.591000	0.81541	GGA	.		0.517	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		T	45932578	G	T	45932578	3	4	31	1	0	0	0	0	1	0	0	0	7605	1174	41	3	682	3	IGFBP1	7	45932578	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	179284	45932578	113206085	1066	6618											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	48314688	48314688	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattagtatcagataagCcagatattatttcagaggct	8	5	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:48314688C>G	ENST00000435803.1	+	17	5449	c.5425C>G	c.(5425-5427)Cca>Gca	p.P1809A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1809					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						ATCAGATAAGCCAGATATTAT	0.373																																					p.P1809A		.											.	ABCA13-521	0			c.C5425G						.						34	33	33					7																	48314688		1824	4075	5899	SO:0001583	missense	154664	exon17			GATAAGCCAGATA	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.5425C>G	7.37:g.48314688C>G	ENSP00000411096:p.Pro1809Ala	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	34	14	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885413	0.33255	.	.	ENSG00000179869	ENST00000435803	T	0.20332	2.08	6.05	6.05	0.98169	.	0.000000	0.49305	D	0.000155	T	0.42921	0.1224	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.09292	-1.0681	9	.	.	.	.	12.9903	0.58614	0.0:0.9241:0.0:0.0759	.	1809	Q86UQ4	ABCAD_HUMAN	A	1809	ENSP00000411096:P1809A	.	P	+	1	0	ABCA13	48285234	0.476000	0.25901	0.219000	0.23793	0.012000	0.07955	2.243000	0.43115	2.878000	0.98634	0.650000	0.86243	CCA	.		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48314688	C	G	48314688	3	3	31	1	0	0	0	0	1	0	0	0	31	739	26	3	5320	3	ABCA13	7	48314688	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2382110	48314688	110823975	1067	6619											
IKZF1	10320	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	50468109	50468109	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgagaactcgcaggacgcGctccgcgtggtcagcaccag	13	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:50468109G>C	ENST00000331340.3	+	8	1499	c.1344G>C	c.(1342-1344)gcG>gcC	p.A448A	IKZF1_ENST00000346667.4_Silent_p.A218A|IKZF1_ENST00000343574.5_Silent_p.A361A|IKZF1_ENST00000357364.4_Silent_p.A361A|IKZF1_ENST00000438033.1_Silent_p.A361A|IKZF1_ENST00000349824.4_Silent_p.A305A|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.A406A|IKZF1_ENST00000439701.1_Silent_p.A406A	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	448					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCAGGACGCGCTCCGCGTGG	0.657			"D,T"	BCL6	"ALL, DLBCL"																																p.A448A		.		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1-1242	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)	c.G1344C						.						28	32	31					7																	50468109		2106	4245	6351	SO:0001819	synonymous_variant	10320	exon8			GGACGCGCTCCGC	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1344G>C	7.37:g.50468109G>C		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	148	36	NM_006060	0	0	0	0	0	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																				.		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		C	50468109	G	C	50468109	2	2	31	1	0	0	0	0	0	0	0	1	7641	1074	38	2		2	IKZF1	7	50468109	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2153421	50468109	108670554	1068	6620											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	51092894	51092894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgctgagggtgcccgtgCtgaacctggaggccgtcctt	15	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:51092894C>A	ENST00000265136.7	-	12	3845	c.3680G>T	c.(3679-3681)aGc>aTc	p.S1227I	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Missense_Mutation_p.S1309I	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1227					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCCGTGCTGAACCTGGA	0.637																																					p.S1227I	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G3680T						.						68	64	65					7																	51092894		2203	4300	6503	SO:0001583	missense	23242	exon12			CCCGTGCTGAACC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3680G>T	7.37:g.51092894C>A	ENSP00000265136:p.Ser1227Ile	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	84	24	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202814	0.58234	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.16743	2.32;2.42;2.34;2.33	5.34	3.48	0.39840	.	0.166548	0.29066	N	0.013246	T	0.32704	0.0838	M	0.61703	1.905	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.71656	0.952;0.952;0.963;0.974;0.974	T	0.04307	-1.0961	10	0.66056	D	0.02	.	6.9335	0.24453	0.0:0.6122:0.2832:0.1046	.	1180;1237;1227;1309;769	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	I	1227;1072;1112;1309	ENSP00000265136:S1227I;ENSP00000401204:S1072I;ENSP00000413498:S1112I;ENSP00000378912:S1309I	ENSP00000265136:S1227I	S	-	2	0	COBL	51060388	0.000000	0.05858	0.061000	0.19648	0.073000	0.16967	0.578000	0.23773	1.241000	0.43820	0.650000	0.86243	AGC	.		0.637	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51092894	C	A	51092894	3	1	31	1	0	0	0	0	1	0	0	0	3660	797	28	3	113	3	COBL	7	51092894	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	624785	51092894	108045769	1069	6621											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	51111286	51111286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctcggtcgtgtcctcCgacgcaaaacagctgccaac	10	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:51111286C>A	ENST00000265136.7	-	8	1365	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S	COBL_ENST00000395542.2_Silent_p.S482S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	400					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTGTCCTCCGACGCAAAAC	0.617																																					p.S400S	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G1200T						.						109	89	96					7																	51111286		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon8			GTCCTCCGACGCA	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1200G>T	7.37:g.51111286C>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	79	33	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	c	0.144	-1.099123	0.01843	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0634	0.09849	0.141:0.4475:0.1418:0.2697	.	.	.	.	X	376	.	.	G	-	1	0	COBL	51078780	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-8.460000	0.00020	-4.090000	0.00074	-1.154000	0.01816	GGA	.		0.617	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51111286	C	A	51111286	2	1	31	1	0	0	0	0	0	0	0	1	3660	639	23	2		2	COBL	7	51111286	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	18392	51111286	108027377	1070	6622											
POM121L12	285877	broad.mit.edu	37	chr7	53103415	53103415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgggaacttctggaaGgcgggagaacccctgctgca	14	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:53103415G>A	ENST00000408890.4	+	1	67	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	17										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACTTCTGGAAGGCGGGAGAAC	0.697																																					p.K17K		.											.	.	0			c.G51A						.						13	17	16					7																	53103415		2003	4150	6153	SO:0001819	synonymous_variant	285877	exon1			CTGGAAGGCGGGA		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.51G>A	7.37:g.53103415G>A		Somatic	67	3		WXS	Illumina GAIIx	Phase_I	113	22	NM_182595	0	0	0	0	0	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			.		0.697	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103415	G	A	53103415	2	1	31	1	0	0	0	0	0	0	0	1	12280	991	35	3		3	POM121L12	7	53103415	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1992129	53103415	106035248	1071	6623											
POM121L12	285877	broad.mit.edu;bcgsc.ca	37	chr7	53103439	53103439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacccctgctgcaaggCcccgacgccctggcggctcc	13	18	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:53103439C>A	ENST00000408890.4	+	1	91	c.75C>A	c.(73-75)ggC>ggA	p.G25G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	25										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCTGCAAGGCCCCGACGCCC	0.711																																					p.G25G		.											.	.	0			c.C75A						.						16	22	20					7																	53103439		2028	4163	6191	SO:0001819	synonymous_variant	285877	exon1			GCAAGGCCCCGAC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.75C>A	7.37:g.53103439C>A		Somatic	82	2		WXS	Illumina GAIIx	Phase_I	132	30	NM_182595	0	0	0	0	0	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			.		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103439	C	A	53103439	2	1	31	1	0	0	0	0	0	0	0	1	12280	726	26	3		3	POM121L12	7	53103439	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	24	53103439	106035224	1072	6624											
VSTM2A	222008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	54617625	54617625	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcagggtgactgatgcCaactacggggagcttcagga	16	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:54617625C>G	ENST00000407838.3	+	4	802	c.396C>G	c.(394-396)gcC>gcG	p.A132A	VSTM2A_ENST00000402613.3_Silent_p.A132A|VSTM2A_ENST00000404951.1_Silent_p.A132A|VSTM2A_ENST00000302287.3_Silent_p.A132A|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Silent_p.A131A	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	132	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGACTGATGCCAACTACGGGG	0.512																																					p.A132A		.											.	.	0			c.C396G						.						60	60	60					7																	54617625		2203	4300	6503	SO:0001819	synonymous_variant	222008	exon4			TGATGCCAACTAC	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.396C>G	7.37:g.54617625C>G		Somatic	216	0		WXS	Illumina GAIIx	Phase_I	166	46	NM_182546	0	0	0	0	0	A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	CCDS5512.2																																																																																			.		0.512	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		G	54617625	C	G	54617625	2	3	31	1	0	0	0	0	0	0	0	1	17278	581	21	3		3	VSTM2A	7	54617625	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1514186	54617625	104521038	1073	6625											
LANCL2	55915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	55479679	55479679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtgcgccacaaaaaattccGatctgggaattacccatcat	7	11	2	0	rs371096573		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:55479679G>T	ENST00000254770.2	+	6	1483	c.905G>T	c.(904-906)cGa>cTa	p.R302L		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	302					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAAAATTCCGATCTGGGAAT	0.483																																					p.R302L		.											.	LANCL2-516	0			c.G905T						.						84	90	88					7																	55479679		2203	4300	6503	SO:0001583	missense	55915	exon6			AATTCCGATCTGG	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.905G>T	7.37:g.55479679G>T	ENSP00000254770:p.Arg302Leu	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	157	53	NM_018697	0	0	0	0	0	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921709	0.73213	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.81	5.81	0.92471	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.46741	1.465	0.53005	D	0.99996	P	0.48407	0.91	P	0.54965	0.765	T	0.52487	-0.8569	10	0.62326	D	0.03	.	18.6322	0.91364	0.0:0.0:1.0:0.0	.	302	Q9NS86	LANC2_HUMAN	L	302	ENSP00000254770:R302L	ENSP00000254770:R302L	R	+	2	0	LANCL2	55447173	0.997000	0.39634	0.998000	0.56505	0.407000	0.30961	5.135000	0.64777	2.734000	0.93682	0.650000	0.86243	CGA	.		0.483	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		T	55479679	G	T	55479679	3	4	31	1	0	0	0	0	1	0	0	0	8649	1058	37	2	927	2	LANCL2	7	55479679	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	862054	55479679	103658984	1074	6626											
CCT6A	908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	56128072	56128072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatcaaagatgcagtgagGgacggcttgagggctgtcaa	15	7	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:56128072G>T	ENST00000275603.4	+	10	1395	c.1176G>T	c.(1174-1176)agG>agT	p.R392S	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.R347S|CCT6A_ENST00000540286.1_Missense_Mutation_p.R361S	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	392					'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)			ATGCAGTGAGGGACGGCTTGA	0.398																																					p.R392S		.											.	CCT6A-91	0			c.G1176T						.						105	93	97					7																	56128072		2203	4300	6503	SO:0001583	missense	908	exon10			AGTGAGGGACGGC	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.1176G>T	7.37:g.56128072G>T	ENSP00000275603:p.Arg392Ser	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	120	31	NM_001762	0	0	0	0	0	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472124	0.63737	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.79033	-1.23;-1.23;-1.23	5.68	2.03	0.26663	.	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	M	0.88979	2.995	0.80722	D	1	D;P;P	0.55605	0.972;0.76;0.724	P;P;P	0.62184	0.899;0.589;0.477	D	0.86178	0.1604	10	0.72032	D	0.01	-27.8001	9.427	0.38586	0.6258:0.0:0.3741:0.0	.	361;347;392	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	S	392;347;361;250	ENSP00000275603:R392S;ENSP00000352019:R347S;ENSP00000438488:R361S	ENSP00000275603:R392S	R	+	3	2	CCT6A	56095566	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.563000	0.45922	0.444000	0.26612	-0.469000	0.05056	AGG	.		0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		T	56128072	G	T	56128072	3	4	31	1	0	0	0	0	1	0	0	0	2964	1223	43	3	1214	3	CCT6A	7	56128072	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	648393	56128072	103010591	1075	6627											
CALN1	83698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	71571250	71571250	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagccgttcccatcccGgtccagaacccgaaaggcct	10	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:71571250G>T	ENST00000329008.5	-	3	446	c.148C>A	c.(148-150)Cgg>Agg	p.R50R	CALN1_ENST00000395275.2_Silent_p.R92R|CALN1_ENST00000405452.2_Silent_p.R50R|CALN1_ENST00000395276.2_Silent_p.R50R|CALN1_ENST00000412588.1_Silent_p.R92R|CALN1_ENST00000431984.1_Silent_p.R50R	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	50	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					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)				TTCCCATCCCGGTCCAGAACC	0.537																																					p.R92R		.											.	CALN1-91	0			c.C274A						.						64	61	62					7																	71571250		2203	4300	6503	SO:0001819	synonymous_variant	83698	exon4			CATCCCGGTCCAG	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	ENST00000329008.5:c.148C>A	7.37:g.71571250G>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	96	43	NM_031468	0	0	0	0	0	J3KQA7	Silent	SNP	ENST00000329008.5	37	CCDS5541.1																																																																																			.		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		T	71571250	G	T	71571250	2	4	31	1	0	0	0	0	0	0	0	1	2598	1115	39	2		2	CALN1	7	71571250	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15443178	71571250	87567413	1076	6628											
MDH2	4191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	75689773	75689773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatcttcggcgtgacgaCcctggacatcgtcagagcca	10	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:75689773C>T	ENST00000315758.5	+	5	606	c.512C>T	c.(511-513)aCc>aTc	p.T171I	MDH2_ENST00000443006.1_Missense_Mutation_p.T64I|MDH2_ENST00000432020.2_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	171					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GGCGTGACGACCCTGGACATC	0.527																																					p.T171I		.											.	MDH2-228	0			c.C512T						.						144	119	128					7																	75689773		2203	4300	6503	SO:0001583	missense	4191	exon5			TGACGACCCTGGA		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.512C>T	7.37:g.75689773C>T	ENSP00000327070:p.Thr171Ile	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	202	69	NM_005918	0	0	0	0	0	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951469	0.92660	.	.	ENSG00000146701	ENST00000315758;ENST00000443006	T;T	0.68624	-0.34;-0.34	5.93	5.93	0.95920	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89543	0.3794	10	0.87932	D	0	-9.4816	19.341	0.94340	0.0:1.0:0.0:0.0	.	171	P40926	MDHM_HUMAN	I	171;64	ENSP00000327070:T171I;ENSP00000416929:T64I	ENSP00000327070:T171I	T	+	2	0	MDH2	75527709	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	7.672000	0.83956	2.815000	0.96918	0.650000	0.86243	ACC	.		0.527	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			T	75689773	C	T	75689773	3	4	31	1	0	0	0	0	1	0	0	0	9448	507	18	3	530	3	MDH2	7	75689773	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4118523	75689773	83448890	1077	6629											
MAGI2	9863	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	78131056	78131057	+	Missense_Mutation	DNP	GG	GG	TT													gtgcaggataaggctgggagGgcatctcccctgaggcacct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|G	|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:78131056_78131057GG>TT	ENST00000354212.4	-	5	1055_1056	c.802_803CC>AA	c.(802-804)CCc>AAc	p.P268N	MAGI2_ENST00000535697.1_Missense_Mutation_p.P105N|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268N|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268N|MAGI2_ENST00000536571.1_Missense_Mutation_p.P100N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	268	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCTGGGAGGGCATCTCCCCT	0.495																																					p.P268H|p.P268T		.											.	MAGI2-461	0			c.C803A|c.C802A						.																																			SO:0001583	missense	9863	exon5			TGGGAGGGCATCT|GGGAGGGCATCTC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.802_803delinsTT	7.37:g.78131056_78131057delinsTT	ENSP00000346151:p.Pro268Asn	Somatic	85|82	1|0		WXS	Illumina GAIIx	Phase_I	107|105	33|32	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																			.		0.495	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		TT	78131057	GG	TT	78131056	3	4	31	1	0	0	0	0	1	0	0	0	9229	1232	43	3	3636	3	MAGI2	7	78131056	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	2441283	78131056	81007607	1078	6630											
HGF	3082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	81359060	81359061	+	Nonsense_Mutation	DNP	CC	CC	AA													ttggatgcattcagttgtttCcaaaggaacatcagtgtcat							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:81359060_81359061CC>AA	ENST00000222390.5	-	8	1126_1127	c.900_901GG>TT	c.(898-903)ttGGaa>ttTTaa	p.300_301LE>F*	HGF_ENST00000457544.2_Nonsense_Mutation_p.295_296LE>F*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	300				L -> M (in Ref. 2; CAA34387). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCAGTTGTTTCCAAAGGAACAT	0.381																																					p.LE300F*		.											.	HGF-516	0			c.G900T						.																																			SO:0001587	stop_gained	3082	exon8			TGTTTCCAAAGGA		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.900_901delinsAA	7.37:g.81359060_81359061delinsAA	ENSP00000222390:p.L300_E301delinsF*	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	59	4	NM_000601	0	0	0	0	0	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	DNP	ENST00000222390.5	37	CCDS5597.1																																																																																			.		0.381	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		AA	81359061	CC	AA	81359060	4	1	31	1	0	0	0	0	0	1	0	0	7112	864	30	3	1329	3	HGF	7	81359060	Nonsense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	3228004	81359060	77779603	1079	6631											
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	84628911	84628911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcgcagtactggtcgaGgctgaagtttgggctgctaa	14	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84628911G>T	ENST00000284136.6	-	17	2222	c.2179C>A	c.(2179-2181)Ctc>Atc	p.L727I	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	727					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						TACTGGTCGAGGCTGAAGTTT	0.517																																					p.L727I	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C2179A						.						170	144	153					7																	84628911		2203	4300	6503	SO:0001583	missense	223117	exon17			GGTCGAGGCTGAA	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.2179C>A	7.37:g.84628911G>T	ENSP00000284136:p.Leu727Ile	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	221	76	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712238	0.68730	.	.	ENSG00000153993	ENST00000284136	T	0.30981	1.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.51422	1.61	0.80722	D	1	P	0.52577	0.954	P	0.47206	0.541	T	0.03315	-1.1049	10	0.33141	T	0.24	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	727	O95025	SEM3D_HUMAN	I	727	ENSP00000284136:L727I	ENSP00000284136:L727I	L	-	1	0	SEMA3D	84466847	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	3.098000	0.50259	2.709000	0.92574	0.655000	0.94253	CTC	.		0.517	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84628911	G	T	84628911	3	4	31	1	0	0	0	0	1	0	0	0	14072	1000	35	3	158	3	SEMA3D	7	84628911	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3269851	84628911	74509752	1080	6632											
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	84644451	84644451	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctctggcaagacaacagtCtgcgcaagctttcccataag	9	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84644451C>A	ENST00000284136.6	-	14	1670	c.1627G>T	c.(1627-1629)Gac>Tac	p.D543Y	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	543	PSI.				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						AGACAACAGTCTGCGCAAGCT	0.473																																					p.D543Y	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.G1627T						.						140	128	132					7																	84644451		2203	4300	6503	SO:0001583	missense	223117	exon14			AACAGTCTGCGCA	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.1627G>T	7.37:g.84644451C>A	ENSP00000284136:p.Asp543Tyr	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	205	81	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917249	0.92249	.	.	ENSG00000153993	ENST00000284136	T	0.25414	1.8	5.75	5.75	0.90469	.	0.041555	0.85682	D	0.000000	T	0.63082	0.2481	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.72833	-0.4173	10	0.87932	D	0	.	19.9361	0.97143	0.0:1.0:0.0:0.0	.	543	O95025	SEM3D_HUMAN	Y	543	ENSP00000284136:D543Y	ENSP00000284136:D543Y	D	-	1	0	SEMA3D	84482387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.720000	0.93068	0.561000	0.74099	GAC	.		0.473	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		A	84644451	C	A	84644451	3	1	31	1	0	0	0	0	1	0	0	0	14072	913	32	3	722	3	SEMA3D	7	84644451	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	15540	84644451	74494212	1081	6633											
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	84644491	84644491	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtcgcatctgtgcaaggaGagctgaaccaatccatctcg	11	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84644491G>T	ENST00000284136.6	-	14	1630	c.1587C>A	c.(1585-1587)ctC>ctA	p.L529L	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	529	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						TGTGCAAGGAGAGCTGAACCA	0.453																																					p.L529L	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C1587A						.						150	139	143					7																	84644491		2203	4300	6503	SO:0001819	synonymous_variant	223117	exon14			CAAGGAGAGCTGA	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.1587C>A	7.37:g.84644491G>T		Somatic	206	0		WXS	Illumina GAIIx	Phase_I	197	72	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																			.		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84644491	G	T	84644491	2	4	31	1	0	0	0	0	0	0	0	1	14072	929	33	3		3	SEMA3D	7	84644491	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	40	84644491	74494172	1082	6634											
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	86394645	86394645	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaatgtgggcgaatcaatGaagaccgagggattcaacgc	13	7	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:86394645G>A	ENST00000361669.2	+	2	1283	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E62K|GRM3_ENST00000394720.2_Missense_Mutation_p.E60K|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	62					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)					GCGAATCAATGAAGACCGAGG	0.423																																					p.E62K	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	0			c.G184A						.						144	138	140					7																	86394645		2203	4300	6503	SO:0001583	missense	2913	exon2			ATCAATGAAGACC		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.184G>A	7.37:g.86394645G>A	ENSP00000355316:p.Glu62Lys	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	185	37	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987822	0.74589	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	N	0.25144	0.715	0.80722	D	1	P;B	0.40534	0.72;0.227	B;B	0.41374	0.355;0.078	T	0.67554	-0.5641	10	0.06494	T	0.89	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	62;62	G5E9K2;Q14832	.;GRM3_HUMAN	K	62;62;60;62;62	ENSP00000355316:E62K;ENSP00000398767:E62K;ENSP00000378209:E60K;ENSP00000390037:E62K;ENSP00000407490:E62K	ENSP00000355316:E62K	E	+	1	0	GRM3	86232581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.794000	0.85869	2.732000	0.93576	0.655000	0.94253	GAA	.		0.423	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86394645	G	A	86394645	3	1	31	1	0	0	0	0	1	0	0	0	6825	1291	45	3	186	3	GRM3	7	86394645	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1750154	86394645	72744018	1083	6635											
ABCB4	5244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	87082308	87082308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcgttgatgtcaaaccatCctatttcctgtcgtagaata	7	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87082308C>A	ENST00000265723.4	-	6	599	c.488G>T	c.(487-489)gGa>gTa	p.G163V	ABCB4_ENST00000358400.3_Missense_Mutation_p.G163V|ABCB4_ENST00000453593.1_Missense_Mutation_p.G163V|ABCB4_ENST00000545634.1_Missense_Mutation_p.G163V|ABCB4_ENST00000359206.3_Missense_Mutation_p.G163V	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	163	ABC transmembrane type-1 1. {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)	GTCAAACCATCCTATTTCCTG	0.388																																					p.G163V		.											.	ABCB4-96	0			c.G488T						.						123	111	115					7																	87082308		2203	4300	6503	SO:0001583	missense	5244	exon6			AACCATCCTATTT	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.488G>T	7.37:g.87082308C>A	ENSP00000265723:p.Gly163Val	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	97	29	NM_018850	0	0	0	0	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058406	0.93846	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.973;0.996;0.997	D;D;D;D	0.91635	0.999;0.927;0.954;0.973	D	0.97054	0.9766	10	0.87932	D	0	-13.4449	19.5102	0.95139	0.0:1.0:0.0:0.0	.	163;163;163;163	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	V	163	ENSP00000352135:G163V;ENSP00000351172:G163V;ENSP00000265723:G163V;ENSP00000392983:G163V;ENSP00000437465:G163V	ENSP00000265723:G163V	G	-	2	0	ABCB4	86920244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.767000	0.85331	2.615000	0.88500	0.591000	0.81541	GGA	.		0.388	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		A	87082308	C	A	87082308	3	1	31	1	0	0	0	0	1	0	0	0	43	855	30	3	3464	3	ABCB4	7	87082308	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	687663	87082308	72056355	1084	6636											
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	87138732	87138732	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaggatgggctcctgggaCacgatgcccaggtgtgctcg	15	11	0	0	rs536000511		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87138732C>A	ENST00000265724.3	-	27	3765	c.3348G>T	c.(3346-3348)gtG>gtT	p.V1116V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.V1052V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1116	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTCCTGGGACACGATGCCCA	0.512																																					p.V1116V		.											.	ABCB1-582	0			c.G3348T						.						137	127	131					7																	87138732		2203	4300	6503	SO:0001819	synonymous_variant	5243	exon27			CTGGGACACGATG	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.3348G>T	7.37:g.87138732C>A		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	157	24	NM_000927	0	0	0	0	0	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																			.		0.512	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87138732	C	A	87138732	2	1	31	1	0	0	0	0	0	0	0	1	40	465	17	3		3	ABCB1	7	87138732	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	56424	87138732	71999931	1085	6637											
DBF4	10926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	87526653	87526653	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaggtggaagatatgagcCagtaagtatttaagtccaat	10	4	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87526653C>A	ENST00000265728.1	+	8	1183	c.679C>A	c.(679-681)Caa>Aaa	p.Q227K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	227					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGATATGAGCCAGTAAGTATT	0.328																																					p.Q227K		.											.	DBF4-253	0			c.C679A						.						174	189	184					7																	87526653		2203	4299	6502	SO:0001630	splice_region_variant	10926	exon8			ATGAGCCAGTAAG	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.680+1C>A	7.37:g.87526653C>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	71	20	NM_006716	0	0	0	0	0	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634047	0.47049	.	.	ENSG00000006634	ENST00000265728	T	0.10860	2.83	5.34	5.34	0.76211	.	0.264925	0.35838	N	0.002957	T	0.08802	0.0218	L	0.47716	1.5	0.25142	N	0.990493	B	0.31435	0.323	B	0.27380	0.079	T	0.29488	-1.0010	10	0.06494	T	0.89	-3.4747	11.6712	0.51401	0.0:0.9189:0.0:0.0811	.	227	Q9UBU7	DBF4A_HUMAN	K	227	ENSP00000265728:Q227K	ENSP00000265728:Q227K	Q	+	1	0	DBF4	87364589	0.988000	0.35896	0.943000	0.38184	0.954000	0.61252	1.087000	0.30865	2.499000	0.84300	0.591000	0.81541	CAA	.		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Missense_Mutation	A	87526653	C	A	87526653	5	1	31	1	0	0	0	0	0	0	1	0	4257	608	21	3	709	3	DBF4	7	87526653	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	387921	87526653	71612010	1086	6638											
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	88963902	88963902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattatcaatatccgaaaCcaaagacgatgatagctaat	6	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:88963902C>T	ENST00000333190.4	+	4	2215	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	536							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATCCGAAACCAAAGACGAT	0.363										HNSCC(36;0.09)																											p.P536S		.											.	ZNF804B-101	0			c.C1606T						.						48	50	49					7																	88963902		2202	4298	6500	SO:0001583	missense	219578	exon4			CCGAAACCAAAGA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1606C>T	7.37:g.88963902C>T	ENSP00000329638:p.Pro536Ser	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	117	32	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022402	0.54683	.	.	ENSG00000182348	ENST00000333190	T	0.20332	2.08	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000005	T	0.48223	0.1488	M	0.69823	2.125	0.46416	D	0.999032	D	0.89917	1.0	D	0.74674	0.984	T	0.44711	-0.9310	10	0.72032	D	0.01	-17.7365	19.253	0.93933	0.0:1.0:0.0:0.0	.	536	A4D1E1	Z804B_HUMAN	S	536	ENSP00000329638:P536S	ENSP00000329638:P536S	P	+	1	0	ZNF804B	88801838	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.597000	0.67577	2.785000	0.95823	0.655000	0.94253	CCA	.		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88963902	C	T	88963902	3	4	31	1	0	0	0	0	1	0	0	0	18219	507	18	3	1620	3	ZNF804B	7	88963902	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1437249	88963902	70174761	1087	6639											
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	88966065	88966065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgactccaaccattatcCctgcacaccccactttctta	2	18	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:88966065C>A	ENST00000333190.4	+	4	4378	c.3769C>A	c.(3769-3771)Cct>Act	p.P1257T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1257							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACCATTATCCCTGCACACCC	0.488										HNSCC(36;0.09)																											p.P1257T		.											.	ZNF804B-101	0			c.C3769A						.						227	189	202					7																	88966065		2203	4300	6503	SO:0001583	missense	219578	exon4			ATTATCCCTGCAC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3769C>A	7.37:g.88966065C>A	ENSP00000329638:p.Pro1257Thr	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	129	50	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132692	0.56828	.	.	ENSG00000182348	ENST00000333190	T	0.33438	1.41	5.16	5.16	0.70880	.	0.098132	0.45606	D	0.000350	T	0.59046	0.2165	M	0.77103	2.36	0.47584	D	0.999461	D	0.89917	1.0	D	0.77004	0.989	T	0.62882	-0.6760	10	0.72032	D	0.01	-15.6603	18.8226	0.92103	0.0:1.0:0.0:0.0	.	1257	A4D1E1	Z804B_HUMAN	T	1257	ENSP00000329638:P1257T	ENSP00000329638:P1257T	P	+	1	0	ZNF804B	88804001	1.000000	0.71417	0.995000	0.50966	0.264000	0.26372	6.985000	0.76193	2.670000	0.90874	0.561000	0.74099	CCT	.		0.488	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88966065	C	A	88966065	3	1	31	1	0	0	0	0	1	0	0	0	18219	623	22	3	3783	3	ZNF804B	7	88966065	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2163	88966065	70172598	1088	6640											
SAMD9	54809	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	92732074	92732074	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatataagaattgtcaggttCtatgatttttgcttgttttg	9	3	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:92732074C>T	ENST00000379958.2	-	3	3606	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1113						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)			TTGTCAGGTTCTATGATTTTT	0.383																																					p.E1113K		.											.	SAMD9-140	0			c.G3337A						.						108	104	105					7																	92732074		2203	4300	6503	SO:0001583	missense	54809	exon2			CAGGTTCTATGAT	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.3337G>A	7.37:g.92732074C>T	ENSP00000369292:p.Glu1113Lys	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	103	24	NM_001193307	0	0	0	0	0	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205209	0.22205	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21361	2.01;2.82	4.79	2.89	0.33648	.	0.265527	0.27881	N	0.017477	T	0.13798	0.0334	N	0.25647	0.755	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.17592	-1.0364	10	0.45353	T	0.12	.	9.2277	0.37416	0.0:0.7701:0.1463:0.0835	.	1113	Q5K651	SAMD9_HUMAN	K	1113	ENSP00000369292:E1113K;ENSP00000414529:E1113K	ENSP00000369292:E1113K	E	-	1	0	SAMD9	92570010	0.040000	0.19996	0.338000	0.25549	0.857000	0.48899	1.604000	0.36804	1.201000	0.43203	0.609000	0.83330	GAA	.		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92732074	C	T	92732074	3	4	31	1	0	0	0	0	1	0	0	0	13871	922	32	3	1436	3	SAMD9	7	92732074	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3766009	92732074	66406589	1089	6641											
SAMD9L	219285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	92763958	92763958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggatcaaactccaacaCagcaaaccatttaatttctt	3	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:92763958C>A	ENST00000318238.4	-	5	2543	c.1327G>T	c.(1327-1329)Gtg>Ttg	p.V443L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V443L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V443L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	443					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACTCCAACACAGCAAACCAT	0.338																																					p.V443L		.											.	SAMD9L-94	0			c.G1327T						.						67	69	68					7																	92763958		2203	4299	6502	SO:0001583	missense	219285	exon5			CCAACACAGCAAA	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1327G>T	7.37:g.92763958C>A	ENSP00000326247:p.Val443Leu	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	38	11	NM_152703	0	0	0	0	0	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882866	0.72410	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.17213	2.29;2.29;2.29	4.74	3.86	0.44501	.	0.000000	0.64402	D	0.000017	T	0.28433	0.0703	M	0.66939	2.045	0.45718	D	0.998629	D	0.60575	0.988	P	0.50754	0.649	T	0.08722	-1.0708	10	0.87932	D	0	-3.5502	12.7605	0.57361	0.0:0.919:0.0:0.081	.	443	Q8IVG5	SAM9L_HUMAN	L	443	ENSP00000326247:V443L;ENSP00000405760:V443L;ENSP00000408796:V443L	ENSP00000326247:V443L	V	-	1	0	SAMD9L	92601894	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.864000	0.69575	1.216000	0.43427	0.460000	0.39030	GTG	.		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		A	92763958	C	A	92763958	3	1	31	1	0	0	0	0	1	0	0	0	13872	478	17	3	3431	3	SAMD9L	7	92763958	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	31884	92763958	66374705	1090	6642											
CALCR	799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	93073002	93073002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagatagatcccttcaCagagcatccagaaatagttg	8	8	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:93073002C>A	ENST00000394441.1	-	8	1031	c.716G>T	c.(715-717)tGt>tTt	p.C239F	CALCR_ENST00000360249.4_Missense_Mutation_p.C255F|CALCR_ENST00000359558.2_Missense_Mutation_p.C273F|CALCR_ENST00000426151.1_Missense_Mutation_p.C239F|CALCR_ENST00000421592.1_Missense_Mutation_p.C255F	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	273					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)	GATCCCTTCACAGAGCATCCA	0.438																																					p.C273F		.											.	CALCR-664	0			c.G818T						.						144	134	137					7																	93073002		2203	4300	6503	SO:0001583	missense	799	exon11			CCTTCACAGAGCA	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.716G>T	7.37:g.93073002C>A	ENSP00000377959:p.Cys239Phe	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	158	62	NM_001164737	0	0	0	0	0	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493729	0.84962	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.94	4.94	0.65067	.	.	.	.	.	T	0.69387	0.3105	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76992	-0.2753	9	0.87932	D	0	.	18.7491	0.91806	0.0:1.0:0.0:0.0	.	273;239	F5H605;A4D1G6	.;.	F	273;255;255;239;239	ENSP00000352561:C273F;ENSP00000353385:C255F;ENSP00000399552:C255F;ENSP00000377959:C239F;ENSP00000389295:C239F	ENSP00000352561:C273F	C	-	2	0	CALCR	92910938	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.651000	0.83577	2.753000	0.94483	0.557000	0.71058	TGT	.		0.438	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93073002	C	A	93073002	3	1	31	1	0	0	0	0	1	0	0	0	2586	478	17	3	732	3	CALCR	7	93073002	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	309044	93073002	66065661	1091	6643											
SHFM1	7979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	96324204	96324204	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatctaagccagcccagtCtaaaaatagaaacagatgct	6	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:96324204C>A	ENST00000248566.2	-	2	204		c.e2-1		SHFM1_ENST00000444799.1_Splice_Site|SHFM1_ENST00000417009.1_Splice_Site|SHFM1_ENST00000413065.1_Splice_Site	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1						double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CCAGCCCAGTCTAAAAATAGA	0.353								Homologous recombination																													.		.											.	SHFM1-227	0			c.77-1G>T						.						116	112	114					7																	96324204		2203	4300	6503	SO:0001630	splice_region_variant	7979	exon3			CCCAGTCTAAAAA	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"deleted in split-hand/foot 1"	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.77-1G>T	7.37:g.96324204C>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	48	22	NM_006304	0	0	0	0	0	Q13437|Q61067	Splice_Site	SNP	ENST00000248566.2	37	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295829	0.81025	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHFM1	96162140	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.599000	0.82757	2.728000	0.93425	0.650000	0.86243	.	.		0.353	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304	Intron	A	96324204	C	A	96324204	5	1	31	1	0	0	0	0	0	0	1	0	14323	927	32	3	144	3	SHFM1	7	96324204	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3251202	96324204	62814459	1092	6644											
BAIAP2L1	55971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	97944819	97944819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaaagccacagtgcttatCaaccagaaagcagaagcgcc	9	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:97944819C>A	ENST00000005260.8	-	7	807	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	198	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGCTTATCAACCAGAAAG	0.418																																					p.D198Y		.											.	BAIAP2L1-91	0			c.G592T						.						131	130	131					7																	97944819		2203	4300	6503	SO:0001583	missense	55971	exon7			GCTTATCAACCAG	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.592G>T	7.37:g.97944819C>A	ENSP00000005260:p.Asp198Tyr	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	116	34	NM_018842	0	0	0	0	0	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713724	0.89112	.	.	ENSG00000006453	ENST00000005260	T	0.28255	1.62	5.46	5.46	0.80206	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65438	-0.6168	10	0.72032	D	0.01	-3.6474	18.6649	0.91486	0.0:1.0:0.0:0.0	.	198	Q9UHR4	BI2L1_HUMAN	Y	198	ENSP00000005260:D198Y	ENSP00000005260:D198Y	D	-	1	0	AC093799.1	97782755	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.445000	0.80570	2.732000	0.93576	0.655000	0.94253	GAT	.		0.418	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		A	97944819	C	A	97944819	3	1	31	1	0	0	0	0	1	0	0	0	1303	826	29	3	975	3	BAIAP2L1	7	97944819	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1620615	97944819	61193844	1093	6645											
ZKSCAN5	23660	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	99129205	99129205	+	Frame_Shift_Del	DEL	C	C	-													gaaagccttcagagtgaggtCccaccttgttcagcatcaga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:99129205delC	ENST00000394170.2	+	7	2104	c.1853delC	c.(1852-1854)tccfs	p.S618fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.S618fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.S618fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	618					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)					AGAGTGAGGTCCCACCTTGTT	0.557																																					p.S618fs		.											.	ZKSCAN5-91	0			c.1853delC						.						75	68	70					7																	99129205		2203	4300	6503	SO:0001589	frameshift_variant	23660	exon7			TGAGGTCCCACCT	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.1853delC	7.37:g.99129205delC	ENSP00000377725:p.Ser618fs	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	322	90	NM_145102	0	0	0	0	0	A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	CCDS5667.1																																																																																			.		0.557	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		-	99129205	C	-	99129205	7	5	31	1	0	1	0	1	0	0	0	0	17738	855	30	0	1875	0	ZKSCAN5	7	99129205	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	1184386	99129205	60009458	1094	6646											
ZNF655	79027	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	99169990	99169990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacccaagttcctgagactAgagaagtgtataagtctgag	10	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:99169990A>G	ENST00000394163.2	+	3	442	c.259A>G	c.(259-261)Aga>Gga	p.R87G	ZNF655_ENST00000493277.1_Missense_Mutation_p.R122G|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.R122G|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.R87G	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	87					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCCTGAGACTAGAGAAGTGTA	0.383																																					p.R122G		.											.	ZNF655-91	0			c.A364G						.						68	68	68					7																	99169990		2203	4299	6502	SO:0001583	missense	79027	exon4			GAGACTAGAGAAG	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.259A>G	7.37:g.99169990A>G	ENSP00000377718:p.Arg87Gly	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	90	5	NM_001085368	0	0	0	0	0	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633414	0.29068	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.29917	3.55;3.51;1.55;3.51;3.55	4.47	3.28	0.37604	.	0.000000	0.50627	D	0.000110	T	0.16471	0.0396	N	0.24115	0.695	0.80722	D	1	P;P	0.42518	0.782;0.675	B;B	0.35278	0.199;0.098	T	0.03193	-1.1062	10	0.45353	T	0.12	-6.0079	7.1696	0.25710	0.6372:0.0:0.0:0.3628	.	122;87	Q8N720-3;Q8N720	.;ZN655_HUMAN	G	87;122;122;122;87	ENSP00000252713:R87G;ENSP00000419135:R122G;ENSP00000389260:R122G;ENSP00000393876:R122G;ENSP00000377718:R87G	ENSP00000252713:R87G	R	+	1	2	ZNF655	99007926	0.457000	0.25752	1.000000	0.80357	0.764000	0.43329	0.117000	0.15583	1.003000	0.39130	0.477000	0.44152	AGA	.		0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		G	99169990	A	G	99169990	3	3	31	1	0	0	0	0	1	0	0	0	18116	412	15	4	796	4	ZNF655	7	99169990	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	40785	99169990	59968673	1095	6647											
EPO	2056	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	100320745	100320746	+	Missense_Mutation	DNP	GG	GG	AT													caggggaggcctgcaggacaGgggacagatgaccaggtgtg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:100320745_100320746GG>AT	ENST00000252723.2	+	5	752_753	c.571_572GG>AT	c.(571-573)GGg>ATg	p.G191M		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	191					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCAGGACAGGGGACAGATGA	0.584																																					p.G191M		.											.	EPO-514	0			c.G572T						.																																			SO:0001583	missense	2056	exon5			GGACAGGGGACAG	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	Exception_encountered	7.37:g.100320745_100320746delinsAT	ENSP00000252723:p.Gly191Met	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	167	0	NM_000799	0	0	0	0	0	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	DNP	ENST00000252723.2	37	CCDS5705.1																																																																																			.		0.584	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		AT	100320746	GG	AT	100320745	3	1	31	1	0	0	0	0	1	0	0	0	5204	1000	35	3	589	3	EPO	7	100320745	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	1150755	100320745	58817918	1096	6648											
PLOD3	8985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100855544	100855545	+	Missense_Mutation	DNP	CC	CC	AT													acccgctcacatggccatgtCcctggcctcgcctgggctca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:100855544_100855545CC>AT	ENST00000223127.3	-	10	1514_1515	c.1116_1117GG>AT	c.(1114-1119)agGGac>agATac	p.D373Y		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	373					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	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 galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGCCATGTCCCTGGCCTCGC	0.663																																					p.D373Y		.											.	PLOD3-92	0			c.G1116A						.																																			SO:0001583	missense	8985	exon10			CATGTCCCTGGCC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1116_1117delinsAT	7.37:g.100855544_100855545delinsAT	ENSP00000223127:p.Asp373Tyr	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	162	0	NM_001084	0	0	0	0	0	B2R6W6|Q540C3	Missense_Mutation	DNP	ENST00000223127.3	37	CCDS5715.1																																																																																			.		0.663	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			AT	100855545	CC	AT	100855544	3	1	31	1	0	0	0	0	1	0	0	0	12142	855	30	3	1139	3	PLOD3	7	100855544	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	534799	100855544	58283119	1097	6649											
MYL10	93408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	101259519	101259519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcggccttgacgaaacCtttcccttcagtgtcgaaca	7	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101259519C>A	ENST00000223167.4	-	6	691	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	172	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTGACGAAACCTTTCCCTTCA	0.557																																					p.G172C	Esophageal Squamous(24;575 709 17516 40384 51639)	.											.	MYL10-136	0			c.G514T						.						116	94	102					7																	101259519		2203	4300	6503	SO:0001583	missense	93408	exon6			CGAAACCTTTCCC	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.514G>T	7.37:g.101259519C>A	ENSP00000223167:p.Gly172Cys	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	173	55	NM_138403	0	0	0	0	0		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130823	0.56828	.	.	ENSG00000106436	ENST00000223167	D	0.84146	-1.81	4.69	4.69	0.59074	EF-hand-like domain (1);	0.154878	0.41712	D	0.000825	D	0.96346	0.8808	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	172	Q9BUA6	MYL10_HUMAN	C	172	ENSP00000223167:G172C	ENSP00000223167:G172C	G	-	1	0	MYL10	101046239	1.000000	0.71417	0.996000	0.52242	0.307000	0.27823	7.057000	0.76669	2.169000	0.68431	0.644000	0.83932	GGT	.		0.557	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		A	101259519	C	A	101259519	3	1	31	1	0	0	0	0	1	0	0	0	10082	681	24	3	178	3	MYL10	7	101259519	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	403975	101259519	57879144	1098	6650											
CUX1	1523	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	101844740	101844740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagatggaggcccagcaGgctgccctcgaccctgcctt	14	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101844740G>T	ENST00000292535.7	+	18	2201	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.Q619H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.Q665H|CUX1_ENST00000556210.1_Missense_Mutation_p.Q563H|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.Q699H|CUX1_ENST00000360264.3_Missense_Mutation_p.Q732H	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	721					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						AGGCCCAGCAGGCTGCCCTCG	0.657																																					p.Q732H		.											.	CUX1-160	0			c.G2196T						.						103	104	103					7																	101844740		2203	4300	6503	SO:0001583	missense	1523	exon18			CCAGCAGGCTGCC	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.2163G>T	7.37:g.101844740G>T	ENSP00000292535:p.Gln721His	Somatic	167	1		WXS	Illumina GAIIx	Phase_I	260	95	NM_001202543	0	0	0	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104957	0.77096	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.72725	-0.59;-0.57;-0.68;-0.4;-0.62;-0.28	5.3	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.993;0.997	D	0.85685	0.1303	10	0.72032	D	0.01	-15.3666	14.8164	0.70039	0.0814:0.0:0.9186:0.0	.	721;732	P39880;P39880-3	CUX1_HUMAN;.	H	732;721;699;665;619;563	ENSP00000353401:Q732H;ENSP00000292535:Q721H;ENSP00000446630:Q699H;ENSP00000447373:Q665H;ENSP00000450125:Q619H;ENSP00000451558:Q563H	ENSP00000292535:Q721H	Q	+	3	2	CUX1	101631460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.407000	0.66363	2.472000	0.83506	0.655000	0.94253	CAG	.		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101844740	G	T	101844740	3	4	31	1	0	0	0	0	1	0	0	0	4073	991	35	3	2300	3	CUX1	7	101844740	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	585221	101844740	57293923	1099	6651											
SPDYE6	0	hgsc.bcm.edu;bcgsc.ca	37	chr7	101991206	101991206	+	IGR	DEL	G	G	-													atgcgttggtattgccaggaGgggaagccagcccggctgaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101991206delG								Y_RNA (13824 upstream) : PRKRIP1 (13137 downstream)																							ATTGCCAGGAGGGGAAGCCAG	0.532																																					p.P239fs		.											.	SPDYE6-1	0			c.717delC						.																																			SO:0001628	intergenic_variant	729597	exon5			CCAGGAGGGGAAG																													7.37:g.101991206delG		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	105	64	NM_001146210	0	0	0	0	0		Frame_Shift_Del	DEL		37																																																																																				.	0	0.532									-	101991206	G	-	101991206	6	5	31	0	1	1	0	1	0	0	0	0	15080	987	35	0		0	SPDYE6	7	101991206	IGR	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	146466	101991206	57147457	1100	6652											
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	103163855	103163855	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacacgcagtttccctggatGcatctcccatggccactgca	8	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:103163855G>C	ENST00000428762.1	-	47	7632	c.7473C>G	c.(7471-7473)tgC>tgG	p.C2491W	RELN_ENST00000343529.5_Missense_Mutation_p.C2491W|RELN_ENST00000424685.2_Missense_Mutation_p.C2491W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2491	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TTCCCTGGATGCATCTCCCAT	0.448																																					p.C2491W	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.C7473G						.						173	161	165					7																	103163855		2203	4300	6503	SO:0001583	missense	5649	exon47			CTGGATGCATCTC		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.7473C>G	7.37:g.103163855G>C	ENSP00000392423:p.Cys2491Trp	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	139	42	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248528	0.59103	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24908	1.83;1.83;1.83	5.82	2.2	0.27929	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67699	-0.5603	10	0.87932	D	0	.	10.5624	0.45152	0.3994:0.0:0.6006:0.0	.	2491;2491	P78509-2;P78509	.;RELN_HUMAN	W	2491;2491;2491;8;2491	ENSP00000392423:C2491W;ENSP00000345694:C2491W;ENSP00000388446:C2491W	ENSP00000345694:C2491W	C	-	3	2	RELN	102951091	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.877000	0.39598	0.607000	0.29982	0.655000	0.94253	TGC	.		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103163855	G	C	103163855	3	2	31	1	0	0	0	0	1	0	0	0	13265	1311	46	3	2985	3	RELN	7	103163855	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1172649	103163855	55974808	1101	6653											
RELN	5649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	103193993	103193993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatttgaaacaaacaccAtagctgaatcttcttcactg	4	11	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:103193993A>G	ENST00000428762.1	-	40	6146	c.5987T>C	c.(5986-5988)aTg>aCg	p.M1996T	RELN_ENST00000343529.5_Missense_Mutation_p.M1996T|RELN_ENST00000424685.2_Missense_Mutation_p.M1996T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1996					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)		AACAAACACCATAGCTGAATC	0.363																																					p.M1996T	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.T5987C						.						118	106	110					7																	103193993		2203	4300	6503	SO:0001583	missense	5649	exon40			AACACCATAGCTG		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.5987T>C	7.37:g.103193993A>G	ENSP00000392423:p.Met1996Thr	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	123	36	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844810	0.71603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.63	5.63	0.86233	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.65815	0.995;0.988	D;D	0.66847	0.947;0.944	T	0.50457	-0.8826	10	0.72032	D	0.01	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	1996;1996	P78509-2;P78509	.;RELN_HUMAN	T	1996	ENSP00000392423:M1996T;ENSP00000345694:M1996T;ENSP00000388446:M1996T	ENSP00000345694:M1996T	M	-	2	0	RELN	102981229	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.263000	0.75096	0.533000	0.62120	ATG	.		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103193993	A	G	103193993	3	3	31	1	0	0	0	0	1	0	0	0	13265	217	8	4	4499	4	RELN	7	103193993	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	30138	103193993	55944670	1102	6654											
PIK3CG	5294	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	106509035	106509035	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcttaccatccacggCaaggaccacgagagtgtgtt	12	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:106509035C>A	ENST00000359195.3	+	2	1339	c.1029C>A	c.(1027-1029)ggC>ggA	p.G343G	PIK3CG_ENST00000440650.2_Silent_p.G343G|PIK3CG_ENST00000496166.1_Silent_p.G343G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	343					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATCCACGGCAAGGACCACG	0.597																																					p.G343G		.											.	PIK3CG-1316	0			c.C1029A						.						112	97	102					7																	106509035		2203	4300	6503	SO:0001819	synonymous_variant	5294	exon2			CCACGGCAAGGAC		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1029C>A	7.37:g.106509035C>A		Somatic	245	1		WXS	Illumina GAIIx	Phase_I	289	106	NM_002649	0	0	0	0	0	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																			.		0.597	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106509035	C	A	106509035	2	1	31	1	0	0	0	0	0	0	0	1	11955	697	25	3		3	PIK3CG	7	106509035	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3315042	106509035	52629628	1103	6655											
SLC26A3	1811	broad.mit.edu	37	chr7	107408071	107408071	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttgtatttatggtaaaatCaatttttccatctttttcct	3	6	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107408071C>G	ENST00000340010.5	-	20	2408	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	742					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323																																					p.D742H		.											.	SLC26A3-94	0			c.G2224C						.						84	86	85					7																	107408071		2203	4300	6503	SO:0001583	missense	1811	exon20			TAAAATCAATTTT	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2224G>C	7.37:g.107408071C>G	ENSP00000345873:p.Asp742His	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_000111	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636493	0.14386	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93426	-3.22;-3.21	4.55	3.62	0.41486	.	0.643276	0.16103	N	0.229465	D	0.89798	0.6819	L	0.57536	1.79	0.22511	N	0.999035	B;B	0.15473	0.009;0.013	B;B	0.14023	0.01;0.007	T	0.81230	-0.1027	10	0.52906	T	0.07	.	6.3213	0.21219	0.0:0.7113:0.1885:0.1002	.	629;742	G5E9U3;P40879	.;S26A3_HUMAN	H	629;742	ENSP00000415817:D629H;ENSP00000345873:D742H	ENSP00000345873:D742H	D	-	1	0	SLC26A3	107195307	0.575000	0.26692	0.663000	0.29738	0.437000	0.31866	0.597000	0.24059	2.361000	0.80049	0.580000	0.79431	GAT	.		0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		G	107408071	C	G	107408071	3	3	31	1	0	0	0	0	1	0	0	0	14563	826	29	3	78	3	SLC26A3	7	107408071	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	899036	107408071	51730592	1104	6656											
SLC26A3	1811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107431510	107431510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctggatgattccagaaaGcactgtgactgatgccgccg	11	12	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107431510G>C	ENST00000340010.5	-	5	737	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493																																					p.L185V		.											.	SLC26A3-94	0			c.C553G						.						73	63	67					7																	107431510		2203	4300	6503	SO:0001583	missense	1811	exon5			CAGAAAGCACTGT	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.553C>G	7.37:g.107431510G>C	ENSP00000345873:p.Leu185Val	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	239	79	NM_000111	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293961	0.40594	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.95238	-3.55;-3.65	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.63208	1.945	0.51482	D	0.999926	D;D	0.60575	0.981;0.988	P;P	0.59487	0.848;0.858	D	0.95287	0.8391	10	0.45353	T	0.12	.	14.8865	0.70572	0.0688:0.0:0.9312:0.0	.	150;185	G5E9U3;P40879	.;S26A3_HUMAN	V	150;185	ENSP00000415817:L150V;ENSP00000345873:L185V	ENSP00000345873:L185V	L	-	1	0	SLC26A3	107218746	1.000000	0.71417	0.883000	0.34634	0.025000	0.11179	3.569000	0.53827	1.426000	0.47256	-0.216000	0.12614	CTT	.		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		C	107431510	G	C	107431510	3	2	31	1	0	0	0	0	1	0	0	0	14563	971	34	3	1809	3	SLC26A3	7	107431510	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	23439	107431510	51707153	1105	6657											
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107684339	107684339	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctgttcacttatactttcGatctggaatgagaaaaacac	7	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107684339G>T	ENST00000388781.3	-	29	4412	c.4329C>A	c.(4327-4329)atC>atA	p.I1443I	LAMB4_ENST00000388780.3_Silent_p.I1443I|LAMB4_ENST00000205386.4_Silent_p.I1443I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1443	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTATACTTTCGATCTGGAATG	0.348																																					p.I1443I		.											.	LAMB4-140	0			c.C4329A						.						111	100	104					7																	107684339		2203	4298	6501	SO:0001819	synonymous_variant	22798	exon29			ACTTTCGATCTGG	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4329C>A	7.37:g.107684339G>T		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	36	11	NM_007356	0	0	0	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			.		0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107684339	G	T	107684339	2	4	31	1	0	0	0	0	0	0	0	1	8641	1048	37	2		2	LAMB4	7	107684339	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	252829	107684339	51454324	1106	6658											
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107816985	107816985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatttaaattttttaaaGtccaccgtgtcttgttggca	7	6	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107816985G>T	ENST00000425651.2	-	24	3040	c.3041C>A	c.(3040-3042)aCt>aAt	p.T1014N	NRCAM_ENST00000413765.2_Missense_Mutation_p.T995N|NRCAM_ENST00000379024.4_Missense_Mutation_p.T995N|NRCAM_ENST00000379028.3_Missense_Mutation_p.T1014N|NRCAM_ENST00000379022.4_Missense_Mutation_p.T1014N|NRCAM_ENST00000351718.4_Missense_Mutation_p.T998N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1014	Fibronectin type-III 4. {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						ATTTTTTAAAGTCCACCGTGT	0.358																																					p.T1014N		.											.	NRCAM-156	0			c.C3041A						.						104	105	105					7																	107816985		2203	4300	6503	SO:0001583	missense	4897	exon24			TTTAAAGTCCACC		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.3041C>A	7.37:g.107816985G>T	ENSP00000401244:p.Thr1014Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	62	21	NM_001037132	0	0	0	0	0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581757	0.65992	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.89	1.61	0.23674	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200805	0.53938	D	0.000057	T	0.65544	0.2701	M	0.72118	2.19	0.41096	D	0.985638	D;P;B;B;B	0.54772	0.968;0.813;0.421;0.205;0.295	P;P;P;B;B	0.62649	0.905;0.602;0.529;0.394;0.127	T	0.61931	-0.6961	10	0.18710	T	0.47	.	8.1081	0.30898	0.4991:0.0:0.5009:0.0	.	1014;995;995;998;1014	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	1014;1014;995;1014;998;995;1014;1014	ENSP00000368314:T1014N;ENSP00000407858:T995N;ENSP00000325269:T998N;ENSP00000368310:T995N;ENSP00000401244:T1014N;ENSP00000368308:T1014N	ENSP00000325269:T998N	T	-	2	0	NRCAM	107604221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.179000	0.42528	0.415000	0.25817	-0.142000	0.14014	ACT	.		0.358	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107816985	G	T	107816985	3	4	31	1	0	0	0	0	1	0	0	0	10683	1029	36	3	931	3	NRCAM	7	107816985	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	132646	107816985	51321678	1107	6659											
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107880406	107880406	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaacgttaatacttacgatCaagaggtacttccagtgcac	7	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107880406C>A	ENST00000425651.2	-	1	102	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.D35Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D35Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.D35Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D35Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D35Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	35					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						TACTTACGATCAAGAGGTACT	0.463																																					p.D35Y		.											.	NRCAM-156	0			c.G103T						.						99	95	96					7																	107880406		2203	4300	6503	SO:0001583	missense	4897	exon1			TACGATCAAGAGG		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.103G>T	7.37:g.107880406C>A	ENSP00000401244:p.Asp35Tyr	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	72	24	NM_001037132	0	0	0	0	0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907206	0.92107	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.76578	0.31;0.56;0.24;0.36;0.31;0.32;-0.41;-0.97;-1.03;-1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	L	0.55990	1.75	0.80722	D	1	D;P;P;B;P	0.53462	0.96;0.875;0.819;0.252;0.844	P;P;P;B;B	0.58721	0.844;0.509;0.535;0.142;0.321	D	0.84082	0.0385	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	35	ENSP00000368314:D35Y;ENSP00000407858:D35Y;ENSP00000325269:D35Y;ENSP00000368310:D35Y;ENSP00000401244:D35Y;ENSP00000368308:D35Y;ENSP00000390421:D35Y;ENSP00000390868:D35Y;ENSP00000397544:D35Y;ENSP00000408203:D35Y	ENSP00000325269:D35Y	D	-	1	0	NRCAM	107667642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.020000	0.76419	2.941000	0.99782	0.655000	0.94253	GAT	.		0.463	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		A	107880406	C	A	107880406	3	1	31	1	0	0	0	0	1	0	0	0	10683	826	29	3	3961	3	NRCAM	7	107880406	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	63421	107880406	51258257	1108	6660											
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	108119816	108119816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggttattcagaagcaaaCctccatcctgcaaaatacaa	6	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:108119816C>A	ENST00000422087.1	-	11	2292	c.1886G>T	c.(1885-1887)gGt>gTt	p.G629V	PNPLA8_ENST00000388728.5_Missense_Mutation_p.G567V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.G567V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G529V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G629V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G629V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	629	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CAGAAGCAAACCTCCATCCTG	0.383																																					p.G629V		.											.	PNPLA8-135	0			c.G1886T						.						104	87	93					7																	108119816		2203	4300	6503	SO:0001583	missense	50640	exon9			AGCAAACCTCCAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1886G>T	7.37:g.108119816C>A	ENSP00000410804:p.Gly629Val	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	85	24	NM_001256008	0	0	0	0	0	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517560	0.85495	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.78	5.78	0.91487	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	H	0.95645	3.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97163	0.9839	10	0.87932	D	0	.	20.0106	0.97448	0.0:1.0:0.0:0.0	.	629	Q9NP80	PLPL8_HUMAN	V	564;629;567;629;529;629;529	ENSP00000257694:G629V;ENSP00000373380:G567V;ENSP00000410804:G629V;ENSP00000387789:G529V;ENSP00000406779:G629V;ENSP00000402274:G529V	ENSP00000257694:G629V	G	-	2	0	PNPLA8	107907052	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.928000	0.70088	2.722000	0.93159	0.655000	0.94253	GGT	.		0.383	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		A	108119816	C	A	108119816	3	1	31	1	0	0	0	0	1	0	0	0	12210	507	18	3	470	3	PNPLA8	7	108119816	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	239410	108119816	51018847	1109	6661											
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaaaccatctcccaaAcctgtaagtgcatattgctt	6	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:114294061A>T	ENST00000393494.2	+	10	1542	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393500.3_Missense_Mutation_p.K346N|MIR3666_ENST00000607845.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	421					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						CATCTCCCAAACCtgtaagtg	0.393																																					p.K446N		.											.	FOXP2-295	0			c.A1338T						.						164	151	156					7																	114294061		2203	4300	6503	SO:0001583	missense	93986	exon10			TCCCAAACCTGTA	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.1263A>T	7.37:g.114294061A>T	ENSP00000377132:p.Lys421Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	66	20	NM_001172767	0	0	0	0	0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583102	0.65992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.65732	-0.17;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.34521	1.04	0.80722	D	1	P;P;B;D;D;P;D	0.61697	0.948;0.948;0.237;0.969;0.99;0.948;0.969	P;P;B;P;P;P;P	0.53313	0.533;0.533;0.143;0.634;0.723;0.533;0.723	T	0.66563	-0.5892	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	420;438;329;421;445;421;446	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	346;421;446;438;421;398;329;421;445;329	ENSP00000377137:K346N;ENSP00000377132:K421N;ENSP00000386200:K446N;ENSP00000385069:K438N;ENSP00000265436:K421N;ENSP00000377129:K329N;ENSP00000353367:K421N;ENSP00000375084:K445N;ENSP00000377130:K329N	ENSP00000265436:K421N	K	+	3	2	FOXP2	114081297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	AAA	.		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114294061	A	T	114294061	3	4	31	1	0	0	0	0	1	0	0	0	6051	40	2	5	1431	5	FOXP2	7	114294061	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	6174245	114294061	44844602	1110	6662											
ASZ1	136991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	117062373	117062373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactagcagcatacataagGggagtccatccatactgaaa	8	10	0	1	rs373691721		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:117062373G>A	ENST00000284629.2	-	3	308	c.246C>T	c.(244-246)ccC>ccT	p.P82P		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CATACATAAGGGGAGTCCATC	0.403																																					p.P82P		.											.	ASZ1-515	0			c.C246T						.						124	114	118					7																	117062373		2203	4300	6503	SO:0001819	synonymous_variant	136991	exon3			CATAAGGGGAGTC	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.246C>T	7.37:g.117062373G>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	106	41	NM_130768	0	0	0	0	0		Silent	SNP	ENST00000284629.2	37	CCDS5772.1																																																																																			.		0.403	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		A	117062373	G	A	117062373	2	1	31	1	0	0	0	0	0	0	0	1	1070	1219	43	3		3	ASZ1	7	117062373	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2768312	117062373	42076290	1111	6663											
ANKRD7	56311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	117864956	117864956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctacaaccttcgagaaaaGgatttaaagaaacttcacag	8	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:117864956G>T	ENST00000265224.4	+	1	227	c.72G>T	c.(70-72)aaG>aaT	p.K24N	ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000357099.4_Missense_Mutation_p.K24N|ANKRD7_ENST00000433239.1_5'UTR|ANKRD7_ENST00000417525.1_5'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	24					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTCGAGAAAAGGATTTAAAGA	0.453																																					p.K24N		.											.	ANKRD7-90	0			c.G72T						.						87	88	88					7																	117864956		1830	4092	5922	SO:0001583	missense	56311	exon1			AGAAAAGGATTTA	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.72G>T	7.37:g.117864956G>T	ENSP00000265224:p.Lys24Asn	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	302	101	NM_019644	0	0	0	0	0	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111900	0.56398	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.72051	0.95;1.05;-0.62	4.28	3.4	0.38934	Ankyrin repeat-containing domain (3);	0.626451	0.13108	U	0.413239	T	0.82093	0.4962	M	0.80982	2.52	0.35126	D	0.767542	D	0.71674	0.998	D	0.67725	0.953	D	0.83547	0.0099	10	0.41790	T	0.15	-5.431	10.2627	0.43436	0.0983:0.0:0.9017:0.0	.	24	Q92527	ANKR7_HUMAN	N	24	ENSP00000349612:K24N;ENSP00000265224:K24N;ENSP00000417353:K24N	ENSP00000265224:K24N	K	+	3	2	ANKRD7	117652192	0.789000	0.28775	0.002000	0.10522	0.166000	0.22503	-0.205000	0.09411	1.181000	0.42912	-0.284000	0.09977	AAG	.		0.453	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		T	117864956	G	T	117864956	3	4	31	1	0	0	0	0	1	0	0	0	686	991	35	3	74	3	ANKRD7	7	117864956	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	802583	117864956	41273707	1112	6664											
KCND2	3751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	119914836	119914836	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaatgtgagtggcacCcgcttccagacgtggcagga	15	10	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:119914836C>A	ENST00000331113.4	+	1	1115	c.150C>A	c.(148-150)acC>acA	p.T50T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	50					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGAGTGGCACCCGCTTCCAGA	0.577																																					p.T50T		.											.	KCND2-517	0			c.C150A						.						128	137	134					7																	119914836		2203	4300	6503	SO:0001819	synonymous_variant	3751	exon1			TGGCACCCGCTTC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.150C>A	7.37:g.119914836C>A		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	177	62	NM_012281	0	0	0	0	0	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																			.		0.577	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		A	119914836	C	A	119914836	2	1	31	1	0	0	0	0	0	0	0	1	8046	610	22	3		3	KCND2	7	119914836	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2049880	119914836	39223827	1113	6665											
C7orf58	79974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	120770181	120770181	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatattttgtgttctcagctCttcccatctactactcctgg	6	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:120770181C>A	ENST00000310396.5	+	12	1877	c.1410C>A	c.(1408-1410)ctC>ctA	p.L470L	CPED1_ENST00000423795.1_Silent_p.L250L|CPED1_ENST00000450913.2_Silent_p.L470L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	470						endoplasmic reticulum (GO:0005783)											GTTCTCAGCTCTTCCCATCTA	0.363																																					p.L470L		.											.	.	0			c.C1410A						.						125	120	121					7																	120770181		2203	4300	6503	SO:0001819	synonymous_variant	79974	exon11			TCAGCTCTTCCCA		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.1410C>A	7.37:g.120770181C>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	82	25	NM_001105533	0	0	0	0	0	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																			.		0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		A	120770181	C	A	120770181	2	1	31	1	0	0	0	0	0	0	0	1	2412	900	32	3		3	C7orf58	7	120770181	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	855345	120770181	38368482	1114	6666											
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	121624143	121624143	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacaggtgttttcctcataCactggaaaggaagagattca	10	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:121624143C>G	ENST00000393386.2	+	8	1311	c.900C>G	c.(898-900)taC>taG	p.Y300*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Y300*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	300	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y300Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCCTCATACACTGGAAAGG	0.353																																					p.Y300X		.											.	PTPRZ1-699	1	Substitution - coding silent(1)	large_intestine(1)	c.C900G						.						124	121	122					7																	121624143		2203	4300	6503	SO:0001587	stop_gained	5803	exon8			CTCATACACTGGA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.900C>G	7.37:g.121624143C>G	ENSP00000377047:p.Tyr300*	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	65	21	NM_001206838	0	0	0	0	0	A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259426	0.95368	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	6.08	-7.25	0.01470	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1881	0.89798	0.0:0.599:0.0:0.401	.	.	.	.	X	300	.	ENSP00000377047:Y300X	Y	+	3	2	PTPRZ1	121411379	0.001000	0.12720	0.750000	0.31169	0.982000	0.71751	-1.540000	0.02200	-1.440000	0.01960	-0.793000	0.03317	TAC	.		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121624143	C	G	121624143	4	3	31	1	0	0	0	0	0	1	0	0	12859	489	17	3	930	3	PTPRZ1	7	121624143	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	853962	121624143	37514520	1115	6667											
SLC13A1	6561	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	122757584	122757584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcattgggtggatttgctaCtggtaggaggaatgcaaatg	15	4	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:122757584C>A	ENST00000194130.2	-	14	1630	c.1591G>T	c.(1591-1593)Gta>Tta	p.V531L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	531					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGATTTGCTACTGGTAGGAGG	0.368																																					p.V531L		.											.	SLC13A1-92	0			c.G1591T						.						135	125	128					7																	122757584		2203	4300	6503	SO:0001583	missense	6561	exon14			TTGCTACTGGTAG		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1591G>T	7.37:g.122757584C>A	ENSP00000194130:p.Val531Leu	Somatic	235	1		WXS	Illumina GAIIx	Phase_I	261	109	NM_022444	0	0	0	0	0	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957231	0.92726	.	.	ENSG00000081800	ENST00000194130	T	0.03152	4.03	5.32	4.42	0.53409	.	0.056543	0.64402	D	0.000001	T	0.18593	0.0446	H	0.97732	4.065	0.80722	D	1	P;P	0.44044	0.825;0.825	P;P	0.46299	0.511;0.511	T	0.13098	-1.0522	10	0.87932	D	0	-8.6126	13.9921	0.64374	0.0:0.9229:0.0:0.0771	.	531;531	A4D0X1;Q9BZW2	.;S13A1_HUMAN	L	531	ENSP00000194130:V531L	ENSP00000194130:V531L	V	-	1	0	SLC13A1	122544820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.769000	0.68865	2.646000	0.89796	0.655000	0.94253	GTA	.		0.368	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		A	122757584	C	A	122757584	3	1	31	1	0	0	0	0	1	0	0	0	14436	565	20	3	204	3	SLC13A1	7	122757584	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1133441	122757584	36381079	1116	6668											
ASB15	142685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	123270074	123270074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttggtaggcagagttactCgtgtactaatagattacatg	10	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:123270074C>A	ENST00000451558.1	+	13	2016	c.1495C>A	c.(1495-1497)Cgt>Agt	p.R499S	ASB15_ENST00000451215.1_Missense_Mutation_p.R499S|ASB15_ENST00000540573.1_Missense_Mutation_p.R499S|ASB15_ENST00000275699.3_Missense_Mutation_p.R499S|ASB15_ENST00000434204.1_Missense_Mutation_p.R499S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358																																					p.R499S		.											.	ASB15-228	1	Substitution - Missense(1)	lung(1)	c.C1495A						.						145	143	143					7																	123270074		2203	4300	6503	SO:0001583	missense	142685	exon9			GTTACTCGTGTAC	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1495C>A	7.37:g.123270074C>A	ENSP00000397655:p.Arg499Ser	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	102	30	NM_080928	0	0	0	0	0	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849191	0.32699	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000275699	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	T	0.75057	0.3798	M	0.73217	2.22	0.25618	N	0.986435	D	0.55605	0.972	P	0.56700	0.804	T	0.71258	-0.4646	10	0.54805	T	0.06	14.3393	10.4831	0.44706	0.1333:0.7988:0.0:0.0679	.	499	Q8WXK1	ASB15_HUMAN	S	499	ENSP00000397655:R499S;ENSP00000390963:R499S;ENSP00000416433:R499S;ENSP00000438643:R499S;ENSP00000275699:R499S	ENSP00000275699:R499S	R	+	1	0	ASB15	123057310	0.985000	0.35326	0.466000	0.27168	0.051000	0.14879	1.586000	0.36611	2.885000	0.99019	0.655000	0.94253	CGT	.		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			A	123270074	C	A	123270074	3	1	31	1	0	0	0	0	1	0	0	0	1020	884	31	2	1525	2	ASB15	7	123270074	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	512490	123270074	35868589	1117	6669											
WASL	8976	broad.mit.edu;bcgsc.ca	37	chr7	123329097	123329097	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctctctctctctaccTgaagaatgaatggctttgct	6	12	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:123329097T>C	ENST00000223023.4	-	10	1787	c.1455A>G	c.(1453-1455)tcA>tcG	p.S485S		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	485	Asp-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tctctctACCTGAAGAATGAA	0.428																																					p.S485S		.											.	WASL-90	0			c.A1455G						.						152	161	158					7																	123329097		2203	4300	6503	SO:0001630	splice_region_variant	8976	exon10			TCTACCTGAAGAA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1456+1A>G	7.37:g.123329097T>C		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_003941	0	0	0	0	0	A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	CCDS34743.1																																																																																			.		0.428	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	Silent	C	123329097	T	C	123329097	5	2	31	1	0	0	0	0	0	0	1	0	17305	1594	55	4	70	4	WASL	7	123329097	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	59023	123329097	35809566	1118	6670											
GRM8	2918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	126544129	126544129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccccaactatctgagccaatCcagagaaaatgcccactttg	6	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:126544129C>A	ENST00000339582.2	-	5	1723	c.915G>T	c.(913-915)tgG>tgT	p.W305C	GRM8_ENST00000358373.3_Missense_Mutation_p.W305C|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.W305C|GRM8_ENST00000405249.1_Missense_Mutation_p.W305C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	305					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)				CTGAGCCAATCCAGAGAAAAT	0.388										HNSCC(24;0.065)																											p.W305C		.											.	GRM8-581	0			c.G915T						.						111	107	108					7																	126544129		2203	4300	6503	SO:0001583	missense	2918	exon4			GCCAATCCAGAGA		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.915G>T	7.37:g.126544129C>A	ENSP00000344173:p.Trp305Cys	Somatic	179	2		WXS	Illumina GAIIx	Phase_I	185	84	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181390	0.78677	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.165875	0.47093	D	0.000250	D	0.94902	0.8352	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.992;0.949;0.996	D	0.96298	0.9219	10	0.87932	D	0	.	17.9065	0.88919	0.0:1.0:0.0:0.0	.	305;305;305	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	C	305	ENSP00000344173:W305C;ENSP00000409790:W305C;ENSP00000351142:W305C;ENSP00000385731:W305C	ENSP00000344173:W305C	W	-	3	0	GRM8	126331365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	2.467000	0.83353	0.508000	0.49915	TGG	.		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126544129	C	A	126544129	3	1	31	1	0	0	0	0	1	0	0	0	6830	856	30	3	1889	3	GRM8	7	126544129	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3215032	126544129	32594534	1119	6671											
GRM8	2918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	126882813	126882813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgcagcacctatgacgCcagaaatcttgtcgggcttg	11	11	1	2	rs371903212		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:126882813C>A	ENST00000339582.2	-	2	1254	c.446G>T	c.(445-447)gGc>gTc	p.G149V	GRM8_ENST00000358373.3_Missense_Mutation_p.G149V|GRM8_ENST00000444921.2_Missense_Mutation_p.G149V|GRM8_ENST00000405249.1_Missense_Mutation_p.G149V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	149					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)				ACCTATGACGCCAGAAATCTT	0.433										HNSCC(24;0.065)																											p.G149V		.											.	GRM8-581	0			c.G446T						.	C	VAL/GLY,VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	159	132	141		446,446	5.6	1	7		141	0,8600		0,0,4300	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	109,109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/909,149/909	126882813	1,13005	2203	4300	6503	SO:0001583	missense	2918	exon1			ATGACGCCAGAAA		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.446G>T	7.37:g.126882813C>A	ENSP00000344173:p.Gly149Val	Somatic	194	1		WXS	Illumina GAIIx	Phase_I	259	109	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300988	0.81136	2.27E-4	0.0	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.971	D;D	0.91635	0.999;0.91	D	0.92716	0.6187	10	0.87932	D	0	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	149;149	O00222-2;O00222	.;GRM8_HUMAN	V	149	ENSP00000344173:G149V;ENSP00000409790:G149V;ENSP00000351142:G149V;ENSP00000385731:G149V;ENSP00000415522:G149V	ENSP00000344173:G149V	G	-	2	0	GRM8	126670049	1.000000	0.71417	0.960000	0.40013	0.991000	0.79684	6.087000	0.71362	2.646000	0.89796	0.650000	0.86243	GGC	.		0.433	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126882813	C	A	126882813	3	1	31	1	0	0	0	0	1	0	0	0	6830	739	26	3	2370	3	GRM8	7	126882813	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	338684	126882813	32255850	1120	6672											
PAX4	5078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	127253093	127253093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctggcagctgcatttccCacttgagcttctcttgccga	8	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127253093C>A	ENST00000341640.2	-	6	879	c.674G>T	c.(673-675)tGg>tTg	p.W225L	PAX4_ENST00000338516.3_Missense_Mutation_p.W233L|PAX4_ENST00000463946.1_Missense_Mutation_p.W223L|PAX4_ENST00000378740.2_Missense_Mutation_p.W225L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	233					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCATTTCCCACTTGAGCTT	0.527																																					p.W225L	Ovarian(113;737 1605 7858 27720 34092)	.											.	PAX4-227	0			c.G674T						.						265	194	218					7																	127253093		2203	4300	6503	SO:0001583	missense	5078	exon6			ATTTCCCACTTGA		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.674G>T	7.37:g.127253093C>A	ENSP00000339906:p.Trp225Leu	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	196	68	NM_006193	0	0	0	0	0	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125880	0.56721	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.94931	-3.56;-3.56;-3.56	4.86	4.86	0.63082	Homeodomain-like (1);	0.439683	0.21446	N	0.074415	D	0.92224	0.7534	L	0.55990	1.75	0.35606	D	0.80828	B;B;B;B	0.31485	0.325;0.278;0.323;0.275	B;B;B;B	0.36186	0.108;0.051;0.055;0.219	D	0.93063	0.6476	10	0.48119	T	0.1	.	9.4796	0.38893	0.0:0.9014:0.0:0.0986	.	225;223;233;223	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	L	225;233;233;223	ENSP00000339906:W225L;ENSP00000344297:W233L;ENSP00000451923:W223L	ENSP00000344297:W233L	W	-	2	0	PAX4	127040329	.	.	1.000000	0.80357	0.991000	0.79684	.	.	2.405000	0.81733	0.555000	0.69702	TGG	.		0.527	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			A	127253093	C	A	127253093	3	1	31	1	0	0	0	0	1	0	0	0	11520	595	21	3	373	3	PAX4	7	127253093	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	370280	127253093	31885570	1121	6673											
PAX4	5078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	127253928	127253928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgaggacagctggagcCaaaacagctgaaaaggaaga	15	6	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127253928C>A	ENST00000341640.2	-	4	625	c.420G>T	c.(418-420)ttG>ttT	p.L140F	PAX4_ENST00000338516.3_Missense_Mutation_p.L148F|PAX4_ENST00000463946.1_Missense_Mutation_p.L138F|PAX4_ENST00000378740.2_Missense_Mutation_p.L140F	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	148					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGCTGGAGCCAAAACAGCTG	0.582																																					p.L140F	Ovarian(113;737 1605 7858 27720 34092)	.											.	PAX4-227	0			c.G420T						.						70	59	63					7																	127253928		2203	4300	6503	SO:0001583	missense	5078	exon4			TGGAGCCAAAACA		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.420G>T	7.37:g.127253928C>A	ENSP00000339906:p.Leu140Phe	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	90	22	NM_006193	0	0	0	0	0	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326235	0.24080	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.94650	-3.48;-3.44;-3.36	5.18	0.0201	0.14123	.	0.741033	0.11322	N	0.575984	D	0.89979	0.6872	L	0.32530	0.975	0.20403	N	0.999909	B;D;B;P	0.61080	0.134;0.989;0.003;0.713	B;P;B;B	0.50440	0.183;0.641;0.01;0.308	T	0.81728	-0.0800	10	0.19147	T	0.46	.	3.5166	0.07727	0.1716:0.4502:0.0:0.3782	.	140;138;148;138	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	F	140;148;148;138	ENSP00000339906:L140F;ENSP00000344297:L148F;ENSP00000451923:L138F	ENSP00000344297:L148F	L	-	3	2	PAX4	127041164	0.578000	0.26717	0.912000	0.35992	0.017000	0.09413	-0.040000	0.12104	0.299000	0.22661	-0.143000	0.13931	TTG	.		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			A	127253928	C	A	127253928	3	1	31	1	0	0	0	0	1	0	0	0	11520	593	21	3	635	3	PAX4	7	127253928	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	835	127253928	31884735	1122	6674											
LRRC4	64101	ucsc.edu;bcgsc.ca	37	chr7	127669562	127669562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcacggaggacatagGgggagtccgacacttaagtt	12	10	1	0	rs556055955		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127669562G>T	ENST00000249363.3	-	2	1389	c.1132C>A	c.(1132-1134)Cct>Act	p.P378T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	378	Ig-like.				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)		GAGGACATAGGGGGAGTCCGA	0.587																																					p.P378T		.											.	LRRC4-154	0			c.C1132A						.						85	75	78					7																	127669562		2203	4300	6503	SO:0001583	missense	64101	exon2			ACATAGGGGGAGT	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.1132C>A	7.37:g.127669562G>T	ENSP00000249363:p.Pro378Thr	Somatic	195	3		WXS	Illumina GAIIx	Phase_I	225	90	NM_022143	0	0	0	0	0	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570783	0.13560	.	.	ENSG00000128594	ENST00000249363	T	0.74315	-0.83	4.4	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.076518	0.52532	D	0.000062	T	0.75177	0.3814	M	0.82716	2.605	0.39300	D	0.96489	B	0.17268	0.021	B	0.21546	0.035	T	0.77525	-0.2555	10	0.87932	D	0	.	10.3862	0.44140	0.0:0.1989:0.8011:0.0	.	378	Q9HBW1	LRRC4_HUMAN	T	378	ENSP00000249363:P378T	ENSP00000249363:P378T	P	-	1	0	LRRC4	127456798	0.999000	0.42202	0.999000	0.59377	0.983000	0.72400	0.868000	0.27982	2.268000	0.75426	0.655000	0.94253	CCT	.		0.587	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		T	127669562	G	T	127669562	3	4	31	1	0	0	0	0	1	0	0	0	9032	1232	43	3	833	3	LRRC4	7	127669562	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	415634	127669562	31469101	1123	6675											
FAM71F2	346653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128315858	128315858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgttacctggccccagGgtccatttaccacctggagc	9	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128315858G>T	ENST00000480462.1	+	2	416	c.310G>T	c.(310-312)Ggt>Tgt	p.G104C	FAM71F2_ENST00000477515.1_Missense_Mutation_p.G104C|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.G95C			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	104										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTGGCCCCAGGGTCCATTTAC	0.607																																					p.G104C		.											.	.	0			c.G310T						.						50	48	48					7																	128315858		1934	4142	6076	SO:0001583	missense	346653	exon2			CCCCAGGGTCCAT	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.310G>T	7.37:g.128315858G>T	ENSP00000420140:p.Gly104Cys	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	56	26	NM_001012454	0	0	0	0	0	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127414	0.37533	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.60040	3.12;3.11;3.12;3.12;0.22	4.67	0.842	0.18927	.	0.764422	0.11562	N	0.551679	T	0.68339	0.2990	M	0.73962	2.25	0.09310	N	1	D;D	0.67145	0.995;0.996	P;P	0.60473	0.875;0.754	T	0.56353	-0.7993	10	0.87932	D	0	-12.4308	6.7809	0.23646	0.3885:0.0:0.6115:0.0	.	95;104	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	C	95;104;95;95;104	ENSP00000418907:G95C;ENSP00000420140:G104C;ENSP00000367976:G95C;ENSP00000401654:G95C;ENSP00000419649:G104C	ENSP00000367976:G95C	G	+	1	0	FAM71F2	128103094	0.705000	0.27846	0.048000	0.18961	0.576000	0.36127	1.047000	0.30367	0.049000	0.15920	-0.262000	0.10625	GGT	.		0.607	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			T	128315858	G	T	128315858	3	4	31	1	0	0	0	0	1	0	0	0	5635	1232	43	3	316	3	FAM71F2	7	128315858	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	646296	128315858	30822805	1124	6676											
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128845593	128845593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagagatcgtctgccgtgCagatggcaccatgaggcttg	14	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128845593C>T	ENST00000249373.3	+	4	1170	c.890C>T	c.(889-891)gCa>gTa	p.A297V		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	297					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTCTGCCGTGCAGATGGCACC	0.582			Mis		skin basal cell																																p.A297V		.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO-2451	0			c.C890T						.						52	50	51					7																	128845593		2203	4300	6503	SO:0001583	missense	6608	exon4			GCCGTGCAGATGG	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.890C>T	7.37:g.128845593C>T	ENSP00000249373:p.Ala297Val	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	85	33	NM_005631	0	0	0	0	0	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565583	0.65651	.	.	ENSG00000128602	ENST00000249373	D	0.82433	-1.61	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.143965	0.64402	D	0.000008	T	0.80696	0.4672	L	0.46157	1.445	0.41976	D	0.990772	P	0.43826	0.818	P	0.44561	0.453	T	0.79617	-0.1729	10	0.33940	T	0.23	.	14.1706	0.65508	0.0:0.8503:0.1497:0.0	.	297	Q99835	SMO_HUMAN	V	297	ENSP00000249373:A297V	ENSP00000249373:A297V	A	+	2	0	SMO	128632829	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	4.401000	0.59716	2.620000	0.88729	0.491000	0.48974	GCA	.		0.582	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		T	128845593	C	T	128845593	3	4	31	1	0	0	0	0	1	0	0	0	14845	710	25	3	904	3	SMO	7	128845593	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	529735	128845593	30293070	1125	6677											
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128846172	128846172	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcacctggtcactcCcctttgtcctcactgtggca	7	17	3	0	rs374812951		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128846172C>G	ENST00000249373.3	+	5	1382	c.1102C>G	c.(1102-1104)Ccc>Gcc	p.P368A		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	368					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGGTCACTCCCCTTTGTCCT	0.587			Mis		skin basal cell																																p.P368A		.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO-2451	0			c.C1102G						.	C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	212	171	185		1102	5.7	1	7		185	0,8600		0,0,4300	no	missense	SMO	NM_005631.4	27	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	368/788	128846172	1,13005	2203	4300	6503	SO:0001583	missense	6608	exon5			TCACTCCCCTTTG	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1102C>G	7.37:g.128846172C>G	ENSP00000249373:p.Pro368Ala	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	202	79	NM_005631	0	0	0	0	0	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565284	0.86439	2.27E-4	0.0	ENSG00000128602	ENST00000249373	D	0.91577	-2.87	5.73	5.73	0.89815	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96500	0.8858	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.943	D	0.97105	0.9800	10	0.87932	D	0	.	17.0441	0.86497	0.0:1.0:0.0:0.0	.	368;368	A4D1K5;Q99835	.;SMO_HUMAN	A	368	ENSP00000249373:P368A	ENSP00000249373:P368A	P	+	1	0	SMO	128633408	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.792000	0.85828	2.708000	0.92522	0.555000	0.69702	CCC	.		0.587	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		G	128846172	C	G	128846172	3	3	31	1	0	0	0	0	1	0	0	0	14845	623	22	3	1120	3	SMO	7	128846172	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	579	128846172	30292491	1126	6678											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	131865384	131865384	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaggttgggggactcgcaGagcagctggacatctgacac	15	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:131865384G>T	ENST00000359827.3	-	19	4562	c.3600C>A	c.(3598-3600)ctC>ctA	p.L1200L	PLXNA4_ENST00000321063.4_Silent_p.L1200L			Q9HCM2	PLXA4_HUMAN	plexin A4	1200	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACTCGCAGAGCAGCTGGA	0.607																																					p.L1200L		.											.	PLXNA4-91	0			c.C3600A						.						63	68	66					7																	131865384		2136	4255	6391	SO:0001819	synonymous_variant	91584	exon19			CTCGCAGAGCAGC	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.3600C>A	7.37:g.131865384G>T		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	194	76	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131865384	G	T	131865384	2	4	31	1	0	0	0	0	0	0	0	1	12161	929	33	3		3	PLXNA4	7	131865384	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3019212	131865384	27273279	1127	6679											
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	131912280	131912280	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatctgattgcccacgacCagcccatccatctctgacag	8	15	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:131912280C>G	ENST00000359827.3	-	7	2774	c.1812G>C	c.(1810-1812)ctG>ctC	p.L604L	PLXNA4_ENST00000321063.4_Silent_p.L604L			Q9HCM2	PLXA4_HUMAN	plexin A4	604					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						TGCCCACGACCAGCCCATCCA	0.602																																					p.L604L		.											.	PLXNA4-91	0			c.G1812C						.						73	77	75					7																	131912280		2084	4220	6304	SO:0001819	synonymous_variant	91584	exon7			CACGACCAGCCCA	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.1812G>C	7.37:g.131912280C>G		Somatic	213	0		WXS	Illumina GAIIx	Phase_I	244	86	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		G	131912280	C	G	131912280	2	3	31	1	0	0	0	0	0	0	0	1	12161	581	21	3		3	PLXNA4	7	131912280	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	46896	131912280	27226383	1128	6680											
CNOT4	4850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	135082955	135082955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caccgttccctatactgagaGaatctgaaggtttgtcaatg	9	9	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:135082955G>C	ENST00000315544.5	-	8	1124	c.845C>G	c.(844-846)tCt>tGt	p.S282C	CNOT4_ENST00000428680.2_Missense_Mutation_p.S279C|CNOT4_ENST00000414802.1_Missense_Mutation_p.S282C|CNOT4_ENST00000361528.4_Missense_Mutation_p.S279C|CNOT4_ENST00000423368.2_Missense_Mutation_p.S282C|CNOT4_ENST00000356162.4_Missense_Mutation_p.S282C|CNOT4_ENST00000451834.1_Missense_Mutation_p.S279C|CNOT4_ENST00000541284.1_Missense_Mutation_p.S282C	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	282					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATACTGAGAGAATCTGAAGG	0.343																																					p.S282C	Ovarian(51;766 1130 5502 35047 50875)	.											.	CNOT4-90	0			c.C845G						.						96	88	90					7																	135082955		1801	4072	5873	SO:0001583	missense	4850	exon8			CTGAGAGAATCTG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.845C>G	7.37:g.135082955G>C	ENSP00000326731:p.Ser282Cys	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	62	24	NM_001190850	0	0	0	0	0	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364335	0.82463	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.22	5.22	0.72569	.	0.156506	0.64402	D	0.000015	T	0.63920	0.2552	N	0.24115	0.695	0.58432	D	0.99999	D;D;D;D;D;D	0.69078	0.983;0.997;0.983;0.99;0.972;0.965	P;P;P;P;P;P	0.55824	0.615;0.785;0.536;0.726;0.726;0.726	T	0.68716	-0.5335	10	0.72032	D	0.01	-6.1863	17.7136	0.88328	0.0:0.0:1.0:0.0	.	279;282;282;279;282;279	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	C	282;279;282;282;279;282;282;279;282	ENSP00000445508:S282C;ENSP00000388491:S279C;ENSP00000406777:S282C;ENSP00000354673:S279C;ENSP00000416532:S282C;ENSP00000348485:S282C;ENSP00000399108:S279C;ENSP00000326731:S282C	ENSP00000262563:S282C	S	-	2	0	CNOT4	134733495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.588000	0.87417	0.650000	0.86243	TCT	.		0.343	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135082955	G	C	135082955	3	2	31	1	0	0	0	0	1	0	0	0	3628	942	33	3	1204	3	CNOT4	7	135082955	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3170675	135082955	24055708	1129	6681											
PTN	5764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr7	136912824	136912824	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcttagattctgcTgtgattacaaaaaagagaga	7	6	4	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:136912824T>A	ENST00000348225.2	-	5	879		c.e5-2		PTN_ENST00000393083.2_Splice_Site	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TAGATTCTGCTGTGATTACaa	0.363																																					.		.											.	PTN-516	0			c.452-2A>T						.						168	147	154					7																	136912824		2202	4299	6501	SO:0001630	splice_region_variant	5764	exon6			TTCTGCTGTGATT	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.452-2A>T	7.37:g.136912824T>A		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_002825	0	0	0	0	0	Q5U0B0|Q6ICQ5|Q9UCC6	Splice_Site	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054946	0.36277	.	.	ENSG00000105894	ENST00000348225	.	.	.	5.55	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7736	0.18267	0.0:0.1665:0.0:0.8335	.	.	.	.	.	-1	.	.	.	-	.	.	PTN	136563364	1.000000	0.71417	0.973000	0.42090	0.521000	0.34408	1.852000	0.39348	2.128000	0.65567	0.459000	0.35465	.	.		0.363	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	Intron	A	136912824	T	A	136912824	5	1	31	1	0	0	0	0	0	0	1	0	12811	1594	55	5	60	5	PTN	7	136912824	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1829869	136912824	22225839	1130	6682											
SVOPL	136306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	138363243	138363243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagccgatagtctccactGcatcttccacggtgaacgtc	9	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:138363243G>A	ENST00000419765.3	-	2	143	c.110C>T	c.(109-111)gCa>gTa	p.A37V	SVOPL_ENST00000421622.1_Missense_Mutation_p.A37V	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	37						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGTCTCCACTGCATCTTCCAC	0.493																																					p.A37V		.											.	SVOPL-68	0			c.C110T						.						61	59	60					7																	138363243		692	1591	2283	SO:0001583	missense	136306	exon2			TCCACTGCATCTT	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.110C>T	7.37:g.138363243G>A	ENSP00000405482:p.Ala37Val	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	99	36	NM_001139456	0	0	0	0	0		Missense_Mutation	SNP	ENST00000419765.3	37	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	g	17.82	3.482115	0.63849	.	.	ENSG00000157703	ENST00000421622;ENST00000419765	T;T	0.66815	-0.23;0.25	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.80380	0.4612	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	T	0.81709	-0.0809	9	0.54805	T	0.06	-14.7956	15.9078	0.79445	0.0:0.0:1.0:0.0	.	37	Q8N434	SVOPL_HUMAN	V	37	ENSP00000412830:A37V;ENSP00000405482:A37V	ENSP00000405482:A37V	A	-	2	0	SVOPL	138013783	1.000000	0.71417	0.170000	0.22879	0.140000	0.21249	7.987000	0.88182	2.493000	0.84123	0.401000	0.26515	GCA	.		0.493	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		A	138363243	G	A	138363243	3	1	31	1	0	0	0	0	1	0	0	0	15471	1319	46	3	1424	3	SVOPL	7	138363243	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1450419	138363243	20775420	1131	6683											
JHDM1D	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139791751	139791751	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccgaagtcaggtttgAattctgcatatactttccat	7	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:139791751A>C	ENST00000397560.2	-	19	2681	c.2584T>G	c.(2584-2586)Tca>Gca	p.S862A	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		862					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTCAGGTTTGAATTCTGCATA	0.483																																					p.S862A		.											.	JHDM1D-91	0			c.T2584G						.						118	109	112					7																	139791751		1907	4127	6034	SO:0001583	missense	80853	exon19			GGTTTGAATTCTG																												ENST00000397560.2:c.2584T>G	7.37:g.139791751A>C	ENSP00000380692:p.Ser862Ala	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	219	73	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	9.752	1.167618	0.21621	.	.	ENSG00000006459	ENST00000397560	T	0.11712	2.75	5.9	0.189	0.15119	.	0.906685	0.09531	N	0.789469	T	0.09992	0.0245	L	0.47716	1.5	0.43750	D	0.996256	B	0.17465	0.022	B	0.14023	0.01	T	0.20075	-1.0286	10	0.18276	T	0.48	-0.6275	9.9654	0.41721	0.6894:0.0:0.3106:0.0	.	862	Q6ZMT4	KDM7_HUMAN	A	862	ENSP00000380692:S862A	ENSP00000380692:S862A	S	-	1	0	JHDM1D	139438220	1.000000	0.71417	0.720000	0.30636	0.564000	0.35744	1.897000	0.39799	0.101000	0.17610	0.533000	0.62120	TCA	.		0.483	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			C	139791751	A	C	139791751	3	2	31	1	0	0	0	0	1	0	0	0	7975	246	9	5	249	5	JHDM1D	7	139791751	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1428508	139791751	19346912	1132	6684											
JHDM1D	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	139810956	139810956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggtctaacattgtctGgaatttcaaaggcatgttca	9	8	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:139810956G>A	ENST00000397560.2	-	11	1464	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P456L	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		456					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AACATTGTCTGGAATTTCAAA	0.289																																					p.P456L		.											.	JHDM1D-91	0			c.C1367T						.						117	108	111					7																	139810956		1810	4075	5885	SO:0001583	missense	80853	exon11			TTGTCTGGAATTT																												ENST00000397560.2:c.1367C>T	7.37:g.139810956G>A	ENSP00000380692:p.Pro456Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	67	10	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964996	0.92855	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.60424	0.19;0.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80329	-0.1428	10	0.87932	D	0	-13.1954	19.5257	0.95206	0.0:0.0:1.0:0.0	.	456	Q6ZMT4	KDM7_HUMAN	L	456	ENSP00000380692:P456L;ENSP00000006967:P456L	ENSP00000006967:P456L	P	-	2	0	JHDM1D	139457425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.683000	0.91414	0.655000	0.94253	CCA	.		0.289	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			A	139810956	G	A	139810956	3	1	31	1	0	0	0	0	1	0	0	0	7975	1348	47	3	1498	3	JHDM1D	7	139810956	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	19205	139810956	19327707	1133	6685											
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	140246647	140246647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaaggatggttttgccCagggctgggaaaggggcttc	16	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:140246647C>A	ENST00000275884.6	-	12	2547	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	DENND2A_ENST00000492720.1_Silent_p.L710L|DENND2A_ENST00000496613.1_Silent_p.L710L|DENND2A_ENST00000537639.1_Silent_p.L710L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	710	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)					TGGTTTTGCCCAGGGCTGGGA	0.552																																					p.L710L		.											.	DENND2A-138	0			c.G2130T						.						58	62	60					7																	140246647		1979	4175	6154	SO:0001819	synonymous_variant	27147	exon11			TTTGCCCAGGGCT	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.2130G>T	7.37:g.140246647C>A		Somatic	193	0		WXS	Illumina GAIIx	Phase_I	285	77	NM_015689	0	0	0	0	0	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.552	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		A	140246647	C	A	140246647	2	1	31	1	0	0	0	0	0	0	0	1	4443	581	21	3		3	DENND2A	7	140246647	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	435691	140246647	18892016	1134	6686											
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	140269463	140269464	+	Nonsense_Mutation	DNP	CC	CC	AA													accttttcctgagttgctctCcattgactgggacagcctct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:140269463_140269464CC>AA	ENST00000275884.6	-	6	1938_1939	c.1521_1522GG>TT	c.(1519-1524)atGGag>atTTag	p.507_508ME>I*	DENND2A_ENST00000492720.1_Nonsense_Mutation_p.507_508ME>I*|DENND2A_ENST00000496613.1_Nonsense_Mutation_p.507_508ME>I*|DENND2A_ENST00000537639.1_Nonsense_Mutation_p.507_508ME>I*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	507					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)					GAGTTGCTCTCCATTGACTGGG	0.52																																					p.ME507I*		.											.	DENND2A-138	0			c.G1521T						.																																			SO:0001587	stop_gained	27147	exon5			GCTCTCCATTGAC	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.1521_1522delinsAA	7.37:g.140269463_140269464delinsAA	ENSP00000275884:p.M507_E508delinsI*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	95	4	NM_015689	0	0	0	0	0	C9JUI3|Q1RMD5|Q86XY0	Nonsense_Mutation	DNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.52	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		AA	140269464	CC	AA	140269463	4	1	31	1	0	0	0	0	0	1	0	0	4443	864	30	3	1563	3	DENND2A	7	140269463	Nonsense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	22816	140269463	18869200	1135	6687											
TAS2R3	50831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141464522	141464522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgttcttgggactctgtgGtacctgcctcccttaattgt	9	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141464522G>T	ENST00000247879.2	+	1	626	c.564G>T	c.(562-564)tgG>tgT	p.W188C	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	188					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)					GGACTCTGTGGTACCTGCCTC	0.498																																					p.W188C		.											.	TAS2R3-90	0			c.G564T						.						148	130	136					7																	141464522		2203	4300	6503	SO:0001583	missense	50831	exon1			TCTGTGGTACCTG	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.564G>T	7.37:g.141464522G>T	ENSP00000247879:p.Trp188Cys	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	325	88	NM_016943	0	0	0	0	0	A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937987	0.52972	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	5.93	5.0	0.66597	.	0.259604	0.32430	N	0.006101	T	0.56731	0.2005	M	0.74647	2.275	0.50813	D	0.999892	D	0.89917	1.0	D	0.81914	0.995	T	0.53078	-0.8489	10	0.37606	T	0.19	.	11.5861	0.50918	0.0:0.0:0.8224:0.1776	.	188	Q9NYW6	TA2R3_HUMAN	C	188	ENSP00000247879:W188C	ENSP00000247879:W188C	W	+	3	0	TAS2R3	141110991	0.845000	0.29573	0.949000	0.38748	0.834000	0.47266	1.935000	0.40173	2.814000	0.96858	0.563000	0.77884	TGG	.		0.498	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			T	141464522	G	T	141464522	3	4	31	1	0	0	0	0	1	0	0	0	15619	1270	44	3	566	3	TAS2R3	7	141464522	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1195059	141464522	17674141	1136	6688											
TAS2R38	5726	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	141672602	141672602	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggcattgcctgagatcagGatggctgcatgcccagaggg	15	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141672602G>T	ENST00000547270.1	-	1	971	c.888C>A	c.(886-888)atC>atA	p.I296I		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	296			I -> V (in dbSNP:rs10246939). {ECO:0000269|PubMed:12595690}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGAGATCAGGATGGCTGCAT	0.542																																					p.I296I		.											.	TAS2R38-92	0			c.C888A						.						80	70	73					7																	141672602		2203	4300	6503	SO:0001819	synonymous_variant	5726	exon1			GATCAGGATGGCT	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.888C>A	7.37:g.141672602G>T		Somatic	143	2		WXS	Illumina GAIIx	Phase_I	234	56	NM_176817	0	0	0	0	0	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	CCDS34765.1																																																																																			.		0.542	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		T	141672602	G	T	141672602	2	4	31	1	0	0	0	0	0	0	0	1	15622	1164	41	3		3	TAS2R38	7	141672602	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	208080	141672602	17466061	1137	6689											
MGAM	8972	hgsc.bcm.edu;bcgsc.ca	37	chr7	141759759	141759759	+	Frame_Shift_Del	DEL	G	G	-													aaatgatggagacattgtctGgggaaaggtataatcctaag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141759759delG	ENST00000549489.2	+	33	4147	c.4052delG	c.(4051-4053)tggfs	p.W1351fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.W1351fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1351	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)	GACATTGTCTGGGGAAAGGTA	0.517																																					p.W1351fs		.											.	MGAM-70	0			c.4052delG						.						35	30	32					7																	141759759		1927	4131	6058	SO:0001589	frameshift_variant	8972	exon33			TTGTCTGGGGAAA	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.4052delG	7.37:g.141759759delG	ENSP00000447378:p.Trp1351fs	Somatic	253	2		WXS	Illumina GAIIx	Phase_I	371	110	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	CCDS47727.1																																																																																			.		0.517	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			-	141759759	G	-	141759759	7	5	31	1	0	1	0	1	0	0	0	0	9579	1357	47	0	4178	0	MGAM	7	141759759	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	87157	141759759	17378904	1138	6690											
MGAM	8972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141805635	141805635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattaagcatcgatgtgactGacagaaacatcagcctacat	7	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141805635G>A	ENST00000549489.2	+	48	5613	c.5518G>A	c.(5518-5520)Gac>Aac	p.D1840N	MGAM_ENST00000475668.2_Missense_Mutation_p.D2736N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1840					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)	CGATGTGACTGACAGAAACAT	0.373																																					p.D1840N		.											.	MGAM-70	0			c.G5518A						.						128	120	122					7																	141805635		1855	4109	5964	SO:0001583	missense	8972	exon48			GTGACTGACAGAA	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.5518G>A	7.37:g.141805635G>A	ENSP00000447378:p.Asp1840Asn	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	153	30	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572878	0.03882	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.88741	-2.42	5.43	-4.28	0.03732	.	.	.	.	.	T	0.75488	0.3856	N	0.20807	0.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62077	-0.6930	9	0.05525	T	0.97	.	12.4456	0.55649	0.4459:0.0:0.5541:0.0	.	1840	O43451	MGA_HUMAN	N	1840;2737	ENSP00000447378:D1840N	ENSP00000373973:D1840N	D	+	1	0	MGAM	141452104	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.621000	0.05633	-0.812000	0.03155	GAC	.		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141805635	G	A	141805635	3	1	31	1	0	0	0	0	1	0	0	0	9579	1290	45	3	5704	3	MGAM	7	141805635	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	45876	141805635	17333028	1139	6691											
TRYX3	136541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141955029	141955029	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatcaatagaagtgacTgagaagtgtggatgatgaat	12	3	2	6			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141955029T>A	ENST00000552471.1	-	3	601	c.282A>T	c.(280-282)tcA>tcT	p.S94S	PRSS58_ENST00000547058.2_Silent_p.S94S			Q8IYP2	PRS58_HUMAN	protease, serine, 58	94	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						TAGAAGTGACTGAGAAGTGTG	0.418																																					p.S94S		.											.	PRSS58-24	0			c.A282T						.						211	191	198					7																	141955029		2203	4300	6503	SO:0001819	synonymous_variant	136541	exon4			AGTGACTGAGAAG		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.282A>T	7.37:g.141955029T>A		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	234	59	NM_001001317	0	0	0	0	0	B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	CCDS5871.1																																																																																			.		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		A	141955029	T	A	141955029	2	1	31	1	0	0	0	0	0	0	0	1	16652	1567	55	5		5	TRYX3	7	141955029	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	149394	141955029	17183634	1140	6692											
TRPV5	56302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142606676	142606676	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggaaccagcggtccccCagcccgaattcgcacccaca	9	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142606676C>A	ENST00000265310.1	-	14	2223	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	625					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGCGGTCCCCCAGCCCGAATT	0.627																																					p.L625L		.											.	TRPV5-177	0			c.G1875T						.						89	77	81					7																	142606676		2203	4300	6503	SO:0001819	synonymous_variant	56302	exon14			GTCCCCCAGCCCG	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1875G>T	7.37:g.142606676C>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	126	38	NM_019841	0	0	0	0	0	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																			.		0.627	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142606676	C	A	142606676	2	1	31	1	0	0	0	0	0	0	0	1	16647	581	21	3		3	TRPV5	7	142606676	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	651647	142606676	16531987	1141	6693											
KEL	3792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142638380	142638380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggttcaagagagcacCacgtgcacagcggaaatacc	14	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142638380C>A	ENST00000355265.2	-	19	2632	c.2158G>T	c.(2158-2160)Ggt>Tgt	p.G720C		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	720					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGAGAGCACCACGTGCACAG	0.597																																					p.G720C		.											.	KEL-93	0			c.G2158T						.						93	96	95					7																	142638380		2203	4300	6503	SO:0001583	missense	3792	exon19			GAGCACCACGTGC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2158G>T	7.37:g.142638380C>A	ENSP00000347409:p.Gly720Cys	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	156	51	NM_000420	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590614	0.28357	.	.	ENSG00000197993	ENST00000355265	D	0.93953	-3.32	4.77	3.88	0.44766	Peptidase M13, neprilysin, C-terminal (1);	0.258393	0.28104	N	0.016581	D	0.97272	0.9108	H	0.97240	3.965	0.09310	N	1	D	0.76494	0.999	D	0.65323	0.934	D	0.91995	0.5606	10	0.87932	D	0	-11.0515	8.3515	0.32305	0.0:0.8943:0.0:0.1057	.	720	P23276	KELL_HUMAN	C	720	ENSP00000347409:G720C	ENSP00000347409:G720C	G	-	1	0	KEL	142348502	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.743000	0.26231	1.230000	0.43646	0.651000	0.88453	GGT	.		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142638380	C	A	142638380	3	1	31	1	0	0	0	0	1	0	0	0	8169	594	21	3	44	3	KEL	7	142638380	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	31704	142638380	16500283	1142	6694											
KEL	3792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142640676	142640676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgacgtcccaaggggacaCcttccacctgtgggaagagg	13	11	0	2	rs150678405		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142640676C>A	ENST00000355265.2	-	15	2074	c.1600G>T	c.(1600-1602)Gtg>Ttg	p.V534L	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	534					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAAGGGGACACCTTCCACCTG	0.547																																					p.V534L		.											.	KEL-93	0			c.G1600T						.						118	97	104					7																	142640676		2203	4300	6503	SO:0001583	missense	3792	exon15			GGGACACCTTCCA	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1600G>T	7.37:g.142640676C>A	ENSP00000347409:p.Val534Leu	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	184	53	NM_000420	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451937	0.26074	.	.	ENSG00000197993	ENST00000355265	D	0.81659	-1.52	4.88	3.06	0.35304	Peptidase M13, neprilysin, C-terminal (1);	0.376195	0.22519	N	0.058983	T	0.70649	0.3248	L	0.59436	1.845	0.22226	N	0.99928	P	0.35077	0.483	B	0.27887	0.084	T	0.59558	-0.7432	10	0.35671	T	0.21	-28.6774	6.8534	0.24028	0.0:0.7867:0.0:0.2133	.	534	P23276	KELL_HUMAN	L	534	ENSP00000347409:V534L	ENSP00000347409:V534L	V	-	1	0	KEL	142350798	0.002000	0.14202	0.645000	0.29479	0.344000	0.29017	1.067000	0.30616	0.631000	0.30412	-0.150000	0.13652	GTG	C|1.000;T|0.000		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142640676	C	A	142640676	3	1	31	1	0	0	0	0	1	0	0	0	8169	507	18	3	618	3	KEL	7	142640676	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2296	142640676	16497987	1143	6695											
OR9A2	135924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142723927	142723927	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcccacaggaaaagttgagcGatacatgtagagaaagatac	10	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142723927G>T	ENST00000350513.2	-	1	355	c.293C>A	c.(292-294)tCg>tAg	p.S98*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAAGTTGAGCGATACATGTAG	0.473																																					p.S98X		.											.	OR9A2-69	0			c.C293A						.						94	84	87					7																	142723927		2203	4300	6503	SO:0001587	stop_gained	135924	exon1			TTGAGCGATACAT		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"GPCR / Class A : Olfactory receptors"	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.293C>A	7.37:g.142723927G>T	ENSP00000316518:p.Ser98*	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	392	95	NM_001001658	0	0	0	0	0	B9EH51|Q6IF71|Q8NGD9	Nonsense_Mutation	SNP	ENST00000350513.2	37	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006789	0.19199	.	.	ENSG00000179468	ENST00000350513	.	.	.	4.62	-4.08	0.03963	.	2.274550	0.02745	U	0.116764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.4963	6.5302	0.22322	0.4806:0.2223:0.2971:0.0	.	.	.	.	X	98	.	ENSP00000316518:S98X	S	-	2	0	OR9A2	142434049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.491000	0.00225	-1.243000	0.02519	-0.361000	0.07541	TCG	.		0.473	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			T	142723927	G	T	142723927	4	4	31	1	0	0	0	0	0	1	0	0	11287	1059	37	2	643	2	OR9A2	7	142723927	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	83251	142723927	16414736	1144	6696											
OR6V1	346517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	142749491	142749491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggcttctcctccttTggtgagctgcaggcccttct	10	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142749491T>C	ENST00000418316.1	+	1	75	c.54T>C	c.(52-54)ttT>ttC	p.F18F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	18						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)					TCTCCTCCTTTGGTGAGCTGC	0.512																																					p.F18F		.											.	OR6V1-23	0			c.T54C						.						172	166	168					7																	142749491		1937	4125	6062	SO:0001819	synonymous_variant	346517	exon1			CTCCTTTGGTGAG		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.54T>C	7.37:g.142749491T>C		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	173	21	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	CCDS47728.1																																																																																			.		0.512	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			C	142749491	T	C	142749491	2	2	31	1	0	0	0	0	0	0	0	1	11250	1809	63	4		4	OR6V1	7	142749491	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	25564	142749491	16389172	1145	6697											
OR6V1	346517	broad.mit.edu	37	chr7	142750347	142750347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgctacaggggcagatgCagaggctgaaaggcctttgc	15	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142750347C>A	ENST00000418316.1	+	1	931	c.910C>A	c.(910-912)Cag>Aag	p.Q304K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGGGCAGATGCAGAGGCTGAA	0.552																																					p.Q304K		.											.	OR6V1-23	0			c.C910A						.						36	37	37					7																	142750347		1932	4125	6057	SO:0001583	missense	346517	exon1			CAGATGCAGAGGC		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.910C>A	7.37:g.142750347C>A	ENSP00000396085:p.Gln304Lys	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	48	9	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.393307	0.01185	.	.	ENSG00000225781	ENST00000418316	T	0.35421	1.31	4.16	2.23	0.28157	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.33497	-0.9866	9	0.02654	T	1	.	6.0734	0.19901	0.1838:0.7074:0.0:0.1088	.	304	Q8N148	OR6V1_HUMAN	K	304	ENSP00000396085:Q304K	ENSP00000396085:Q304K	Q	+	1	0	OR6V1	142460469	0.000000	0.05858	0.783000	0.31826	0.865000	0.49528	0.672000	0.25187	0.366000	0.24427	0.655000	0.94253	CAG	.		0.552	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142750347	C	A	142750347	3	1	31	1	0	0	0	0	1	0	0	0	11250	711	25	3	912	3	OR6V1	7	142750347	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	856	142750347	16388316	1146	6698											
PIP	5304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142836633	142836633	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgtgcaaattgcagccgtCgttgatgttattcgggaatt	11	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142836633C>A	ENST00000291009.3	+	4	379	c.339C>A	c.(337-339)gtC>gtA	p.V113V		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	113					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TTGCAGCCGTCGTTGATGTTA	0.448																																					p.V113V		.											.	PIP-91	0			c.C339A						.						155	146	149					7																	142836633		2203	4299	6502	SO:0001819	synonymous_variant	5304	exon4			AGCCGTCGTTGAT		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.339C>A	7.37:g.142836633C>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	162	36	NM_002652	0	0	0	0	0	A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	CCDS34768.1																																																																																			.		0.448	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		A	142836633	C	A	142836633	2	1	31	1	0	0	0	0	0	0	0	1	11974	871	31	2		2	PIP	7	142836633	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	86286	142836633	16302030	1147	6699											
FAM115C	285966	broad.mit.edu	37	chr7	143421822	143421822	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattctgggagaaggggatGaccagacccctcagtcatgt	12	9	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143421822G>T	ENST00000441159.2	+	7	2571				FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000411497.2_Nonstop_Mutation_p.*565L|FAM115C_ENST00000425618.2_Nonstop_Mutation_p.*565L|FAM115C_ENST00000444908.2_Nonstop_Mutation_p.*846L|FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000357344.4_Nonstop_Mutation_p.*846L			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C						hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGAAGGGGATGACCAGACCCC	0.582																																					p.X846L		.											.	FAM115C-68	0			c.G2537T						.						25	22	23					7																	143421822		1870	3440	5310	SO:0001627	intron_variant	285966	exon7			GGGGATGACCAGA	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2505+32G>T	7.37:g.143421822G>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	163	29	NM_173678	0	0	0	0	0	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.213|6.213	0.407419|0.407419	0.11754|0.11754	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000425618	.|.	.|.	.|.	3.03|3.03	-2.75|-2.75	0.05914|0.05914	.|.	.|.	.|.	.|.	.|.	T|.	0.18045|.	0.0433|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23797|.	-1.0178|.	4|.	.|.	.|.	.|.	.|.	1.1429|1.1429	0.01769|0.01769	0.158:0.2713:0.3434:0.2272|0.158:0.2713:0.3434:0.2272	.|.	.|.	.|.	.|.	I|L	660|846;565;846;565	.|.	.|.	M|X	+|+	3|2	0|2	FAM115C|FAM115C	143052755|143052755	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.619000|-0.619000	0.05572|0.05572	-0.700000|-0.700000	0.05070|0.05070	-0.718000|-0.718000	0.03613|0.03613	ATG|TGA	.		0.582	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		T	143421822	G	T	143421822	1	4	31	0	1	0	0	0	0	0	0	0	5425	1285	45	3		3	FAM115C	7	143421822	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	585189	143421822	15716841	1148	6700											
FAM115A	9747	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	143573262	143573263	+	Missense_Mutation	DNP	CC	CC	AA													cttgtcctcctatgagcaagCcgccaccacatttcatgaac					rs200784338	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143573262_143573263CC>AA	ENST00000479870.1	-	2	647_648	c.439_440GG>TT	c.(439-441)GGc>TTc	p.G147F	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.G147F	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	147										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TATGAGCAAGCCGCCACCACAT	0.53																																					p.G147F		.											.	FAM115A-68	0			c.G439T						.																																			SO:0001583	missense	9747	exon2			GCAAGCCGCCACC	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.439_440delinsAA	7.37:g.143573262_143573263delinsAA	ENSP00000419235:p.Gly147Phe	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	187	12	NM_001206938	0	0	0	0	0	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	DNP	ENST00000479870.1	37	CCDS5886.1																																																																																			C|0.999;T|0.001		0.53	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		AA	143573263	CC	AA	143573262	3	1	31	1	0	0	0	0	1	0	0	0	5424	739	26	3	2357	3	FAM115A	7	143573262	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	151440	143573262	15565401	1149	6701											
OR2F1	26211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143657461	143657461	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtgatgccctgcgatactCggccatcatgcatggagggc	14	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143657461C>A	ENST00000392899.1	+	1	435	c.398C>A	c.(397-399)tCg>tAg	p.S133*	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	133					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTGCGATACTCGGCCATCATG	0.547																																					p.S133X		.											.	OR2F1-71	0			c.C398A						.						172	146	155					7																	143657461		2203	4300	6503	SO:0001587	stop_gained	26211	exon1			GATACTCGGCCAT	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.398C>A	7.37:g.143657461C>A	ENSP00000376633:p.Ser133*	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	429	226	NM_012369	0	0	0	0	0	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Nonsense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008498	0.35415	.	.	ENSG00000213215	ENST00000392899	.	.	.	5.53	2.82	0.32997	.	0.000000	0.44483	D	0.000448	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8309	7.0941	0.25299	0.0:0.6612:0.0:0.3388	.	.	.	.	X	133	.	ENSP00000376633:S133X	S	+	2	0	OR2F1	143288394	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.017000	0.13399	0.466000	0.27193	-0.136000	0.14681	TCG	.		0.547	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			A	143657461	C	A	143657461	4	1	31	1	0	0	0	0	0	1	0	0	11035	893	31	2	400	2	OR2F1	7	143657461	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	84199	143657461	15481202	1150	6702											
OR2F1	26211	ucsc.edu;bcgsc.ca	37	chr7	143657503	143657503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgctaggttggccatcaCatcctgggtcagtggcttca	13	10	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143657503C>A	ENST00000392899.1	+	1	477	c.440C>A	c.(439-441)aCa>aAa	p.T147K	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	147					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGGCCATCACATCCTGGGTC	0.532																																					p.T147K		.											.	OR2F1-71	0			c.C440A						.						143	120	128					7																	143657503		2203	4300	6503	SO:0001583	missense	26211	exon1			CCATCACATCCTG	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.440C>A	7.37:g.143657503C>A	ENSP00000376633:p.Thr147Lys	Somatic	335	2		WXS	Illumina GAIIx	Phase_I	508	131	NM_012369	0	0	0	0	0	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	6.339	0.430621	0.12045	.	.	ENSG00000213215	ENST00000392899	T	0.37752	1.18	5.53	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.365728	0.23674	N	0.045693	T	0.30916	0.0780	L	0.49350	1.555	0.09310	N	1	B	0.23316	0.083	B	0.37198	0.243	T	0.35574	-0.9783	10	0.29301	T	0.29	-0.786	6.3657	0.21453	0.0:0.402:0.3351:0.2629	.	147	Q13607	OR2F1_HUMAN	K	147	ENSP00000376633:T147K	ENSP00000376633:T147K	T	+	2	0	OR2F1	143288436	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-0.228000	0.09114	-0.546000	0.06216	-0.794000	0.03295	ACA	.		0.532	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			A	143657503	C	A	143657503	3	1	31	1	0	0	0	0	1	0	0	0	11035	478	17	3	442	3	OR2F1	7	143657503	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	42	143657503	15481160	1151	6703											
OR2A14	135941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143826651	143826651	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgtggcttcctgggTgttcagcttcctcctggctc	12	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143826651T>A	ENST00000408899.2	+	1	501	c.446T>A	c.(445-447)gTg>gAg	p.V149E		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCTTCCTGGGTGTTCAGCTTC	0.532																																					p.V149E		.											.	OR2A14-90	0			c.T446A						.						180	198	192					7																	143826651		2155	4262	6417	SO:0001583	missense	135941	exon1			CCTGGGTGTTCAG		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.446T>A	7.37:g.143826651T>A	ENSP00000386137:p.Val149Glu	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	232	64	NM_001001659	0	0	0	0	0	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	6.252	0.414613	0.11870	.	.	ENSG00000221938	ENST00000408899	T	0.41758	0.99	4.18	-6.03	0.02185	GPCR, rhodopsin-like superfamily (1);	1.235930	0.06422	U	0.722464	T	0.51941	0.1704	M	0.79614	2.46	0.09310	N	1	B	0.33777	0.425	B	0.42593	0.392	T	0.62478	-0.6846	10	0.72032	D	0.01	1.1228	15.3653	0.74516	0.0:0.745:0.0:0.255	.	149	Q96R47	O2A14_HUMAN	E	149	ENSP00000386137:V149E	ENSP00000386137:V149E	V	+	2	0	OR2A14	143457584	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.471000	0.00990	-1.202000	0.02655	-0.441000	0.05720	GTG	.		0.532	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			A	143826651	T	A	143826651	3	1	31	1	0	0	0	0	1	0	0	0	11015	1696	59	5	448	5	OR2A14	7	143826651	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	169148	143826651	15312012	1152	6704											
NOBOX	135935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	144098647	144098647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccccggagcagttcctcCtccccgggtcctgcagccag	12	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:144098647C>T	ENST00000467773.1	-	4	335	c.336G>A	c.(334-336)gaG>gaA	p.E112E	NOBOX_ENST00000483238.1_Silent_p.E112E|NOBOX_ENST00000223140.5_Silent_p.E27E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	112					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCAGTTCCTCCTCCCCGGGTC	0.617																																					p.E112E		.											.	NOBOX-69	0			c.G336A						.						31	33	32					7																	144098647		1670	3627	5297	SO:0001819	synonymous_variant	135935	exon4			TTCCTCCTCCCCG			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.336G>A	7.37:g.144098647C>T		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	32	8	NM_001080413	0	0	0	0	0	A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37																																																																																				.		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		T	144098647	C	T	144098647	2	4	31	1	0	0	0	0	0	0	0	1	10551	680	24	3		3	NOBOX	7	144098647	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	271996	144098647	15040016	1153	6705											
CNTNAP2	26047	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	145813997	145813997	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcgcgccggctgcgGggcagcgctcctgctgtgga	18	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:145813997G>C	ENST00000361727.3	+	1	545	c.29G>C	c.(28-30)gGg>gCg	p.G10A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	10					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)			GCCGGCTGCGGGGCAGCGCTC	0.687										HNSCC(39;0.1)																											p.G10A		.											.	CNTNAP2-100	0			c.G29C						.						7	5	5					7																	145813997		1974	3855	5829	SO:0001583	missense	26047	exon1			GCTGCGGGGCAGC	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.29G>C	7.37:g.145813997G>C	ENSP00000354778:p.Gly10Ala	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	71	26	NM_014141	0	0	0	0	0	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	5.298	0.240321	0.10023	.	.	ENSG00000174469	ENST00000361727	D	0.87571	-2.27	4.31	3.43	0.39272	.	0.463445	0.16247	U	0.222887	T	0.71728	0.3374	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.60571	-0.7237	10	0.21540	T	0.41	.	8.3382	0.32228	0.1119:0.0:0.8881:0.0	.	10	Q9UHC6	CNTP2_HUMAN	A	10	ENSP00000354778:G10A	ENSP00000354778:G10A	G	+	2	0	CNTNAP2	145444930	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.537000	0.45702	0.778000	0.33520	0.655000	0.94253	GGG	.		0.687	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			C	145813997	G	C	145813997	3	2	31	1	0	0	0	0	1	0	0	0	3654	1232	43	3	31	3	CNTNAP2	7	145813997	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1715350	145813997	13324666	1154	6706											
CNTNAP2	26047	bcgsc.ca	37	chr7	147844680	147844680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgatgaccagtggcaccgGgtcactgcagagaggaatgt	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:147844680G>T	ENST00000361727.3	+	17	3168	c.2652G>T	c.(2650-2652)cgG>cgT	p.R884R	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	884	Laminin G-like 3. {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)			AGTGGCACCGGGTCACTGCAG	0.582										HNSCC(39;0.1)																											p.R884R		.											.	CNTNAP2-100	0			c.G2652T						.						120	111	114					7																	147844680		2203	4300	6503	SO:0001819	synonymous_variant	26047	exon17			GCACCGGGTCACT	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.2652G>T	7.37:g.147844680G>T		Somatic	136	3		WXS	Illumina GAIIx	Phase_I	196	66	NM_014141	0	0	0	0	0	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																			.		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147844680	G	T	147844680	2	4	31	1	0	0	0	0	0	0	0	1	3654	1219	43	3		3	CNTNAP2	7	147844680	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2030683	147844680	11293983	1155	6707											
ZNF467	168544	hgsc.bcm.edu	37	chr7	149463036	149463036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcaggcgcaggggccCtcgccccggtgcagccgctg	17	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149463036C>T	ENST00000302017.3	-	5	968	c.555G>A	c.(553-555)gaG>gaA	p.E185E	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	185					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)			CGCAGGGGCCCTCGCCCCGGT	0.731																																					p.E185E		.											.	ZNF467-90	0			c.G555A						.						4	5	5					7																	149463036		1912	3715	5627	SO:0001819	synonymous_variant	168544	exon5			GGGGCCCTCGCCC	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.555G>A	7.37:g.149463036C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	10	NM_207336	0	0	0	0	0		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			.		0.731	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		T	149463036	C	T	149463036	2	4	31	1	0	0	0	0	0	0	0	1	17975	680	24	3		3	ZNF467	7	149463036	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1618356	149463036	9675627	1156	6708											
ZNF467	168544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149466284	149466284	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctccggtgtaggggcctCgtgccctggcagagaatagg	15	11	0	1	rs558365906		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149466284C>A	ENST00000302017.3	-	4	570	c.157G>T	c.(157-159)Gag>Tag	p.E53*	ZNF467_ENST00000484747.1_Nonsense_Mutation_p.E53*	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	53					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)			GTAGGGGCCTCGTGCCCTGGC	0.607																																					p.E53X		.											.	ZNF467-90	0			c.G157T						.						40	31	34					7																	149466284		2191	4267	6458	SO:0001587	stop_gained	168544	exon4			GGGCCTCGTGCCC	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.157G>T	7.37:g.149466284C>A	ENSP00000304769:p.Glu53*	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	101	36	NM_207336	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162998	0.78226	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.92	-0.428	0.12306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-7.1251	5.3352	0.15953	0.0:0.522:0.1623:0.3158	.	.	.	.	X	53	.	ENSP00000304769:E53X	E	-	1	0	ZNF467	149097217	0.000000	0.05858	0.005000	0.12908	0.081000	0.17604	-0.800000	0.04555	-0.211000	0.10124	-1.644000	0.00765	GAG	.		0.607	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		A	149466284	C	A	149466284	4	1	31	1	0	0	0	0	0	1	0	0	17975	893	31	2	1638	2	ZNF467	7	149466284	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3248	149466284	9672379	1157	6709											
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	149486861	149486861	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaccttgcctggcccctcCccaggctccctggacactgc	9	20	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149486861C>A	ENST00000378016.2	+	0	4635							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)			CTGGCCCCTCCCCAGGCTCCC	0.677																																					p.S1545S		.											.	.	0			c.C4635A						.						21	26	24					7																	149486861		1933	4108	6041			23145	exon31			CCCCTCCCCAGGC	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.149486861C>A		Somatic	116	1		WXS	Illumina GAIIx	Phase_I	148	47	NM_198455	0	0	0	0	0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				.		0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149486861	C	A	149486861	1	1	31	0	1	0	0	0	0	0	0	0	15236	610	22	3		3	SSPO	7	149486861	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	20577	149486861	9651802	1158	6710											
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149518741	149518741	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccggagggtgtgatctgCgaagatacggagtgtgcagg	17	8	1	2	rs367566792		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149518741C>A	ENST00000378016.2	+	0	12735							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)			GTGTGATCTGCGAAGATACGG	0.637																																					p.C4245X		.											.	.	0			c.C12735A						.						19	26	24					7																	149518741		2082	4174	6256			23145	exon89			GATCTGCGAAGAT	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.149518741C>A		Somatic	133	3		WXS	Illumina GAIIx	Phase_I	155	49	NM_198455	0	0	0	0	0	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149518741	C	A	149518741	1	1	31	0	1	0	0	0	0	0	0	0	15236	776	27	2		2	SSPO	7	149518741	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	31880	149518741	9619922	1159	6711											
SLC4A2	6522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150771826	150771826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggctgggtcatcaaccCcctgggagagaagagcccct	15	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:150771826C>T	ENST00000485713.1	+	19	3985	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.P982L|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Missense_Mutation_p.P900L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P973L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P968L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	982	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCATCAACCCCCTGGGAGAG	0.572																																					p.P982L		.											.	SLC4A2-90	0			c.C2945T						.						82	85	84					7																	150771826		2203	4300	6503	SO:0001583	missense	6522	exon19			TCAACCCCCTGGG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2945C>T	7.37:g.150771826C>T	ENSP00000419412:p.Pro982Leu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	148	51	NM_003040	0	0	0	0	0	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443996	0.83993	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.29	5.29	0.74685	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.86268	2.805	0.80722	D	1	P;P;P	0.50819	0.521;0.925;0.939	P;P;P	0.59546	0.479;0.779;0.859	D	0.92119	0.5702	10	0.87932	D	0	.	17.683	0.88249	0.0:1.0:0.0:0.0	.	973;968;982	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	L	982;982;900;973;968	ENSP00000419412:P982L;ENSP00000405600:P982L;ENSP00000311402:P900L;ENSP00000376571:P973L;ENSP00000419164:P968L	ENSP00000311402:P900L	P	+	2	0	SLC4A2	150402759	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	7.651000	0.83577	2.756000	0.94617	0.561000	0.74099	CCC	.		0.572	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		T	150771826	C	T	150771826	3	4	31	1	0	0	0	0	1	0	0	0	14699	623	22	3	3015	3	SLC4A2	7	150771826	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1253085	150771826	8366837	1160	6712											
PRKAG2	51422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	151478357	151478357	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctcatgcgtcgaggggagCgtggcggggactcctggtag	19	9	1	0	rs369471907		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:151478357C>G	ENST00000287878.4	-	3	851	c.347G>C	c.(346-348)cGc>cCc	p.R116P	PRKAG2_ENST00000392801.2_Missense_Mutation_p.R72P|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	116					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R116H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCGAGGGGAGCGTGGCGGGGA	0.647																																					p.R116P		.											.	PRKAG2-658	1	Substitution - Missense(1)	large_intestine(1)	c.G347C						.						68	69	69					7																	151478357		2203	4300	6503	SO:0001583	missense	51422	exon3			GGGGAGCGTGGCG	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.347G>C	7.37:g.151478357C>G	ENSP00000287878:p.Arg116Pro	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	63	22	NM_016203	0	0	0	0	0	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276150	0.59649	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89270	-2.09;-2.49	5.1	5.1	0.69264	.	0.068626	0.53938	D	0.000044	D	0.91267	0.7247	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.87578	0.998;0.737	D	0.92476	0.5989	10	0.66056	D	0.02	.	17.5175	0.87778	0.0:1.0:0.0:0.0	.	116;116	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	P	116;72	ENSP00000287878:R116P;ENSP00000376549:R72P	ENSP00000287878:R116P	R	-	2	0	PRKAG2	151109290	1.000000	0.71417	0.810000	0.32431	0.343000	0.28985	3.298000	0.51818	2.363000	0.80096	0.563000	0.77884	CGC	.		0.647	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		G	151478357	C	G	151478357	3	3	31	1	0	0	0	0	1	0	0	0	12543	768	27	2	1418	2	PRKAG2	7	151478357	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	706531	151478357	7660306	1161	6713											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	151947965	151947965	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaattccaggagtggactCctgaccgttgacatctttat	8	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:151947965C>A	ENST00000262189.6	-	12	1926	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E570*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	570					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)										GGAGTGGACTCCTGACCGTTG	0.333																																					p.E570X		.											.	MLL3-1398	0			c.G1708T						.						113	113	113					7																	151947965		2203	4300	6503	SO:0001587	stop_gained	58508	exon12			TGGACTCCTGACC	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.1708G>T	7.37:g.151947965C>A	ENSP00000262189:p.Glu570*	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	57	26	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.770231	0.98948	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	6.08	4.25	0.50352	.	0.504362	0.16137	N	0.227920	.	.	.	.	.	.	0.33688	D	0.612989	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.3727	0.74581	0.0:0.7277:0.2723:0.0	.	.	.	.	X	570	.	ENSP00000262189:E570X	E	-	1	0	MLL3	151578898	0.845000	0.29573	0.004000	0.12327	0.795000	0.44927	2.347000	0.44036	0.872000	0.35775	0.655000	0.94253	GAG	.		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151947965	C	A	151947965	4	1	31	1	0	0	0	0	0	1	0	0	9660	864	30	3	13219	3	MLL3	7	151947965	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	469608	151947965	7190698	1162	6714											
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	153584820	153584820	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaggggaacgtgatgGtgagtgccacggacagggcg	19	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:153584820G>T	ENST00000404039.1	+	1	638		c.e1+1			NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAACGTGATGGTGAGTGCCAC	0.597																																					.	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.51+1G>T						.						54	52	53					7																	153584820		1568	3582	5150	SO:0001630	splice_region_variant	1804	exon1			GTGATGGTGAGTG	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.51+1G>T	7.37:g.153584820G>T		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	144	19	NM_001039350	0	0	0	0	0		Splice_Site	SNP	ENST00000404039.1	37		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478031	0.63849	.	.	ENSG00000130226	ENST00000404039	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6642	0.62384	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP6	153215753	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.727000	0.61993	2.278000	0.76064	0.557000	0.71058	.	.		0.597	DPP6-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000322930.1	NM_130797	Intron	T	153584820	G	T	153584820	5	4	31	1	0	0	0	0	0	0	1	0	4744	1275	44	3	54	3	DPP6	7	153584820	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1636855	153584820	5553843	1163	6715											
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr7	153749961	153749961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacacctcgaggtccttccCcgcgcccccggaggcgagtc	11	19	0	0	rs564612979		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:153749961C>A	ENST00000377770.3	+	1	197	c.56C>A	c.(55-57)cCc>cAc	p.P19H	DPP6_ENST00000404039.1_Intron|AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000406326.1_Missense_Mutation_p.P19H			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	19					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGTCCTTCCCCGCGCCCCCG	0.697																																					p.P19H	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C56A						.						13	18	17					7																	153749961		692	1588	2280	SO:0001583	missense	1804	exon1			CCTTCCCCGCGCC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.56C>A	7.37:g.153749961C>A	ENSP00000367001:p.Pro19His	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	23	11	NM_130797	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	C	14.69	2.609232	0.46527	.	.	ENSG00000130226	ENST00000406326;ENST00000377770	T	0.21543	2.0	3.31	2.42	0.29668	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.79108	0.75;0.992	T	0.34453	-0.9828	8	0.87932	D	0	-6.0694	9.7779	0.40630	0.0:0.8941:0.0:0.1059	.	19;19	P42658;Q8IYG9	DPP6_HUMAN;.	H	19	ENSP00000367001:P19H	ENSP00000367001:P19H	P	+	2	0	DPP6	153380894	1.000000	0.71417	0.995000	0.50966	0.152000	0.21847	4.316000	0.59178	0.503000	0.28060	-0.274000	0.10170	CCC	.		0.697	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		A	153749961	C	A	153749961	3	1	31	1	0	0	0	0	1	0	0	0	4744	623	22	3	113	3	DPP6	7	153749961	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	165141	153749961	5388702	1164	6716											
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	154561206	154561206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgccgccatcaatgattcCcgtgtccccatcatggagct	8	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:154561206C>T	ENST00000377770.3	+	9	1104	c.963C>T	c.(961-963)tcC>tcT	p.S321S	DPP6_ENST00000427557.1_Silent_p.S214S|DPP6_ENST00000332007.3_Silent_p.S259S|DPP6_ENST00000404039.1_Silent_p.S257S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	321					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCAATGATTCCCGTGTCCCCA	0.557																																					p.S321S	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C963T						.						67	69	68					7																	154561206		2009	4163	6172	SO:0001819	synonymous_variant	1804	exon9			TGATTCCCGTGTC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.963C>T	7.37:g.154561206C>T		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	170	66	NM_130797	0	0	0	0	0		Silent	SNP	ENST00000377770.3	37																																																																																				.		0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		T	154561206	C	T	154561206	2	4	31	1	0	0	0	0	0	0	0	1	4744	610	22	3		3	DPP6	7	154561206	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	811245	154561206	4577457	1165	6717											
DPP6	1804	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	154598776	154598776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaactgcacctacttcagCgcttccttcagccatagcat	7	14	2	1	rs369843983		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:154598776C>A	ENST00000377770.3	+	16	1761	c.1620C>A	c.(1618-1620)agC>agA	p.S540R	DPP6_ENST00000427557.1_Missense_Mutation_p.S433R|DPP6_ENST00000332007.3_Missense_Mutation_p.S478R|DPP6_ENST00000404039.1_Missense_Mutation_p.S476R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	540					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTACTTCAGCGCTTCCTTCA	0.572																																					p.S540R	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C1620A						.						141	144	143					7																	154598776		2117	4230	6347	SO:0001583	missense	1804	exon16			CTTCAGCGCTTCC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1620C>A	7.37:g.154598776C>A	ENSP00000367001:p.Ser540Arg	Somatic	76	1		WXS	Illumina GAIIx	Phase_I	95	29	NM_130797	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	C	15.74	2.921567	0.52653	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.8	-7.92	0.01160	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.078370	0.85682	D	0.000000	T	0.46639	0.1403	L	0.51422	1.61	0.49582	D	0.999807	P;D;D;D	0.89917	0.769;1.0;1.0;1.0	P;D;D;D	0.83275	0.565;0.994;0.996;0.996	T	0.66244	-0.5972	10	0.72032	D	0.01	-21.439	15.6105	0.76713	0.0:0.2237:0.0:0.7763	.	433;478;540;476	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	476;540;478;433	ENSP00000385578:S476R;ENSP00000367001:S540R;ENSP00000328226:S478R;ENSP00000397303:S433R	ENSP00000328226:S478R	S	+	3	2	DPP6	154229709	0.524000	0.26282	0.121000	0.21740	0.858000	0.48976	-0.356000	0.07661	-2.150000	0.00796	-1.619000	0.00793	AGC	.		0.572	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		A	154598776	C	A	154598776	3	1	31	1	0	0	0	0	1	0	0	0	4744	767	27	2	1798	2	DPP6	7	154598776	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	37570	154598776	4539887	1166	6718											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtggtccgcatgaagCgcagaggcgggcgcgggccg	20	12	0	2	rs6969990	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			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)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3	4	3		70	4.4	0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	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.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	12	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156742501	C	G	156742501	3	3	31	1	0	0	0	0	1	0	0	0	10569	768	27	2	72	2	NOM1	7	156742501	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2143725	156742501	2396162	1167	6719											
NOM1	64434	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	156743069	156743069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgctgagctttgcacGcgacggtcttgactatattc	11	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:156743069G>T	ENST00000275820.3	+	1	653	c.638G>T	c.(637-639)cGc>cTc	p.R213L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	213	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)		AGCTTTGCACGCGACGGTCTT	0.572																																					p.R213L		.											.	NOM1-90	0			c.G638T						.						96	106	102					7																	156743069		2203	4300	6503	SO:0001583	missense	64434	exon1			TTGCACGCGACGG	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.638G>T	7.37:g.156743069G>T	ENSP00000275820:p.Arg213Leu	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	157	66	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336028	0.60853	.	.	ENSG00000146909	ENST00000275820	T	0.12039	2.72	4.19	4.19	0.49359	.	0.473208	0.22481	N	0.059489	T	0.09818	0.0241	L	0.38838	1.175	0.33119	D	0.541505	B	0.23058	0.079	B	0.19946	0.027	T	0.09037	-1.0693	10	0.25106	T	0.35	-20.2035	6.6772	0.23100	0.0904:0.0:0.731:0.1785	.	213	Q5C9Z4	NOM1_HUMAN	L	213	ENSP00000275820:R213L	ENSP00000275820:R213L	R	+	2	0	NOM1	156435830	0.990000	0.36364	0.929000	0.37066	0.694000	0.40290	1.484000	0.35508	2.154000	0.67381	0.650000	0.86243	CGC	.		0.572	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		T	156743069	G	T	156743069	3	4	31	1	0	0	0	0	1	0	0	0	10569	1087	38	2	640	2	NOM1	7	156743069	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	568	156743069	2395594	1168	6720											
DLGAP2	9228	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	1497807	1497807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggacaagccgctgctgcaCcaggacgccaagcccgccct	11	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:1497807C>A	ENST00000421627.2	+	2	1082	c.948C>A	c.(946-948)caC>caA	p.H316Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	395					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)		CGCTGCTGCACCAGGACGCCA	0.647																																					p.H316Q		.											.	DLGAP2-22	0			c.C948A						.						6	7	6					8																	1497807		2011	4083	6094	SO:0001583	missense	9228	exon2			GCTGCACCAGGAC	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.948C>A	8.37:g.1497807C>A	ENSP00000400258:p.His316Gln	Somatic	89	2		WXS	Illumina GAIIx	Phase_I	154	90	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.919|6.919	0.539185|0.539185	0.13250|0.13250	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.13089|.	2.62|.	5.3|5.3	3.3|3.3	0.37823|0.37823	.|.	0.351640|.	0.35970|.	N|.	0.002865|.	T|T	0.48484|0.48484	0.1502|0.1502	M|M	0.63428|0.63428	1.95|1.95	0.32782|0.32782	N|N	0.502428|0.502428	B;B|.	0.31383|.	0.321;0.215|.	B;B|.	0.32465|.	0.146;0.07|.	T|T	0.56257|0.56257	-0.8009|-0.8009	10|5	0.39692|.	T|.	0.17|.	-19.5993|-19.5993	5.0596|5.0596	0.14550|0.14550	0.0:0.3088:0.0:0.6912|0.0:0.3088:0.0:0.6912	.|.	395;395|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	Q|N	361;316|333	ENSP00000400258:H316Q|.	ENSP00000348366:H361Q|.	H|T	+|+	3|2	2|0	DLGAP2|DLGAP2	1485214|1485214	1.000000|1.000000	0.71417|0.71417	0.017000|0.017000	0.16124|0.16124	0.154000|0.154000	0.21943|0.21943	2.210000|2.210000	0.42816|0.42816	0.507000|0.507000	0.28148|0.28148	0.655000|0.655000	0.94253|0.94253	CAC|ACC	.		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1497807	C	A	1497807	3	1	31	1	0	0	0	0	1	0	0	0	4574	506	18	3	950	3	DLGAP2	8	1497807	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		1497807	144866215	1169	6721											
DLGAP2	9228	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	1626470	1626470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccacatcaccacggaGgacaaaggccttcagttcgg	11	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:1626470G>T	ENST00000421627.2	+	9	2273	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	792					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)		TCACCACGGAGGACAAAGGCC	0.617																																					p.E713D		.											.	DLGAP2-22	0			c.G2139T						.						58	66	63					8																	1626470		2127	4217	6344	SO:0001583	missense	9228	exon9			CACGGAGGACAAA	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.2139G>T	8.37:g.1626470G>T	ENSP00000400258:p.Glu713Asp	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	192	31	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937889|3.937889	0.73557|0.73557	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.20598|.	2.06|.	5.19|5.19	4.31|4.31	0.51392|0.51392	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70527|0.70527	0.3234|0.3234	M|M	0.65975|0.65975	2.015|2.015	0.41340|0.41340	D|D	0.987292|0.987292	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.74348|.	0.982;0.983|.	T|T	0.70490|0.70490	-0.4857|-0.4857	10|5	0.45353|.	T|.	0.12|.	-13.5978|-13.5978	13.1281|13.1281	0.59366|0.59366	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	778;792|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	D|M	744;713|716	ENSP00000400258:E713D|.	ENSP00000348366:E744D|.	E|R	+|+	3|2	2|0	DLGAP2|DLGAP2	1613877|1613877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	1.910000|1.910000	0.39927|0.39927	2.406000|2.406000	0.81754|0.81754	0.557000|0.557000	0.71058|0.71058	GAG|AGG	.		0.617	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1626470	G	T	1626470	3	4	31	1	0	0	0	0	1	0	0	0	4574	991	35	3	2169	3	DLGAP2	8	1626470	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	128663	1626470	144737552	1170	6722											
MYOM2	9172	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	2054093	2054093	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctatctgggcttcgactgCcaggaaatgacagacgcgtc	11	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2054093C>A	ENST00000262113.4	+	22	2937	c.2796C>A	c.(2794-2796)tgC>tgA	p.C932*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.C357*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	932	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTTCGACTGCCAGGAAATGA	0.488																																					p.C932X		.											.	MYOM2-95	0			c.C2796A						.						149	138	141					8																	2054093		2203	4300	6503	SO:0001587	stop_gained	9172	exon22			CGACTGCCAGGAA		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2796C>A	8.37:g.2054093C>A	ENSP00000262113:p.Cys932*	Somatic	237	1		WXS	Illumina GAIIx	Phase_I	167	38	NM_003970	0	0	0	0	0	Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577153	0.65878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.44	2.24	0.28232	.	0.100076	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2683	0.49122	0.0:0.7601:0.0:0.2399	.	.	.	.	X	932;357	.	ENSP00000262113:C932X	C	+	3	2	MYOM2	2041500	0.980000	0.34600	0.953000	0.39169	0.094000	0.18550	1.561000	0.36342	0.665000	0.31066	0.655000	0.94253	TGC	.		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2054093	C	A	2054093	4	1	31	1	0	0	0	0	0	1	0	0	10130	747	26	3	2878	3	MYOM2	8	2054093	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	427623	2054093	144309929	1171	6723											
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	2090321	2090321	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgctgcttttgcagagaaGagtaagtacctgttggattg	13	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2090321G>T	ENST00000262113.4	+	35	4164	c.4023G>T	c.(4021-4023)aaG>aaT	p.K1341N	MYOM2_ENST00000523438.1_Splice_Site_p.K766N|MYOM2_ENST00000520298.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1341					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTGCAGAGAAGAGTAAGTACC	0.393																																					p.K1341N		.											.	MYOM2-95	0			c.G4023T						.						199	184	189					8																	2090321		2203	4300	6503	SO:0001630	splice_region_variant	9172	exon35			AGAGAAGAGTAAG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4024+1G>T	8.37:g.2090321G>T		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	117	31	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498325	0.64186	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.54866	0.55;0.69	4.91	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.77313	2.365	0.41206	D	0.986407	D	0.89917	1.0	D	0.85130	0.997	T	0.72312	-0.4331	10	0.87932	D	0	.	10.0012	0.41929	0.2341:0.0:0.7659:0.0	.	1341	P54296	MYOM2_HUMAN	N	1341;766	ENSP00000262113:K1341N;ENSP00000428396:K766N	ENSP00000262113:K1341N	K	+	3	2	MYOM2	2077728	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.132000	0.42083	0.996000	0.38943	0.650000	0.86243	AAG	.		0.393	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Missense_Mutation	T	2090321	G	T	2090321	5	4	31	1	0	0	0	0	0	0	1	0	10130	956	33	3	4157	3	MYOM2	8	2090321	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	36228	2090321	144273701	1172	6724											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	2800005	2800005	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcagtacctgtgtttgtaGaggtaaaatgcaaaccctga	10	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2800005G>T	ENST00000520002.1	-	70	11082	c.10527C>A	c.(10525-10527)ctC>ctA	p.L3509L	CSMD1_ENST00000542608.1_Silent_p.L3331L|CSMD1_ENST00000602723.1_Silent_p.L3332L|CSMD1_ENST00000537824.1_Silent_p.L3508L|CSMD1_ENST00000602557.1_Silent_p.L3509L|CSMD1_ENST00000400186.3_Silent_p.L3332L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3509						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)		TGTGTTTGTAGAGGTAAAATG	0.453																																					p.L3508L		.											.	CSMD1-86	0			c.C10524A						.						52	51	51					8																	2800005		1882	4108	5990	SO:0001819	synonymous_variant	64478	exon69			TTTGTAGAGGTAA			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.10527C>A	8.37:g.2800005G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	32	8	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	8.965	0.971561	0.18736	.	.	ENSG00000183117	ENST00000335551	T	0.34472	1.36	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56396	-0.7986	7	0.72032	D	0.01	.	14.581	0.68292	0.0:0.0:0.8539:0.1461	.	.	.	.	I	2911	ENSP00000334828:L2911I	ENSP00000334828:L2911I	L	-	1	2	CSMD1	2787412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.410000	0.66381	2.661000	0.90470	0.643000	0.83706	CTA	.		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2800005	G	T	2800005	2	4	31	1	0	0	0	0	0	0	0	1	3953	929	33	3		3	CSMD1	8	2800005	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	709684	2800005	143564017	1173	6725											
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	2855623	2855623	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatagcccgtgttgcaggTgaaattcacgacatcattca	8	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2855623T>A	ENST00000520002.1	-	55	8845	c.8290A>T	c.(8290-8292)Acc>Tcc	p.T2764S	CSMD1_ENST00000542608.1_Missense_Mutation_p.T2705S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2706S|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2763S|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2764S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2706S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2764	Sushi 19. {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)		GTGTTGCAGGTGAAATTCACG	0.562																																					p.T2763S		.											.	CSMD1-86	0			c.A8287T						.						129	126	127					8																	2855623		2038	4194	6232	SO:0001583	missense	64478	exon54			TGCAGGTGAAATT			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.8290A>T	8.37:g.2855623T>A	ENSP00000430733:p.Thr2764Ser	Somatic	219	2		WXS	Illumina GAIIx	Phase_I	165	44	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.047|8.047	0.765073|0.765073	0.15914|0.15914	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.02142|0.02142	-0.665|-0.665	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.76494	.|0.992;0.06;0.999	.|D;B;D	.|0.81914	.|0.987;0.065;0.995	T|T	0.55958|0.55958	-0.8058|-0.8058	5|10	.|0.02654	.|T	.|1	.|.	16.6288|16.6288	0.85011|0.85011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2764;2764;2705	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	L|S	2180|2706;2764;2625;2763;2705	.|ENSP00000383047:T2706S;ENSP00000430733:T2764S;ENSP00000441462:T2763S;ENSP00000446243:T2705S	.|ENSP00000320445:T2625S	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2843030|2843030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.194000|0.194000	0.23727|0.23727	4.911000|4.911000	0.63328|0.63328	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CAC|ACC	.		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2855623	T	A	2855623	3	1	31	1	0	0	0	0	1	0	0	0	3953	1696	59	5	2475	5	CSMD1	8	2855623	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	55618	2855623	143508399	1174	6726											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	2910065	2910065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgctggctggattcaaGcttgaagccctcatgacatt	10	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2910065G>T	ENST00000520002.1	-	51	8137	c.7582C>A	c.(7582-7584)Ctt>Att	p.L2528I	CSMD1_ENST00000542608.1_Missense_Mutation_p.L2527I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2528I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2527I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2528I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2528I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2528	Sushi 15. {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)		CTGGATTCAAGCTTGAAGCCC	0.512																																					p.L2527I		.											.	CSMD1-86	0			c.C7579A						.						59	58	58					8																	2910065		1970	4158	6128	SO:0001583	missense	64478	exon50			ATTCAAGCTTGAA			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.7582C>A	8.37:g.2910065G>T	ENSP00000430733:p.Leu2528Ile	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	117	24	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.993916|3.993916	0.74703|0.74703	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.090704	.|0.46145	.|D	.|0.000312	D|D	0.82783|0.82783	0.5112|0.5112	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.946;0.999;0.991	.|P;D;D	.|0.77557	.|0.719;0.99;0.917	D|D	0.85201|0.85201	0.1015|0.1015	5|10	.|0.72032	.|D	.|0.01	.|.	12.6822|12.6822	0.56928|0.56928	0.076:0.0:0.924:0.0|0.076:0.0:0.924:0.0	.|.	.|2528;2528;2527	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	D|I	1944|2528;2528;2389;2527;2527	.|ENSP00000383047:L2528I;ENSP00000430733:L2528I;ENSP00000441462:L2527I;ENSP00000446243:L2527I	.|ENSP00000320445:L2389I	A|L	-|-	2|1	0|0	CSMD1|CSMD1	2897472|2897472	1.000000|1.000000	0.71417|0.71417	0.098000|0.098000	0.21074|0.21074	0.079000|0.079000	0.17450|0.17450	5.021000|5.021000	0.64072|0.64072	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GCT|CTT	.		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2910065	G	T	2910065	3	4	31	1	0	0	0	0	1	0	0	0	3953	971	34	3	3199	3	CSMD1	8	2910065	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	54442	2910065	143453957	1175	6727											
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	3216806	3216806	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaccaaagtgaaaacCaattcttcggctgaaggcag	8	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:3216806C>G	ENST00000520002.1	-	22	3730	c.3175G>C	c.(3175-3177)Ggt>Cgt	p.G1059R	CSMD1_ENST00000539096.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1059R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1059R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1059R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1059	Sushi 6. {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)		AAGTGAAAACCAATTCTTCGG	0.522																																					p.G1058R		.											.	CSMD1-86	0			c.G3172C						.						60	66	64					8																	3216806		2201	4300	6501	SO:0001583	missense	64478	exon21			GAAAACCAATTCT			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.3175G>C	8.37:g.3216806C>G	ENSP00000430733:p.Gly1059Arg	Somatic	129	1		WXS	Illumina GAIIx	Phase_I	85	11	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.2|20.2	3.950947|3.950947	0.73787|0.73787	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83622|0.83622	0.5294|0.5294	M|M	0.87617|0.87617	2.895|2.895	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;0.999;0.993|.	D|D	0.85916|0.85916	0.1443|0.1443	10|5	0.87932|.	D|.	0|.	.|.	18.8469|18.8469	0.92210|0.92210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1059;1059;1059|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|S	1059;1059;921;1058;1058;1058|538	ENSP00000383047:G1059R;ENSP00000430733:G1059R;ENSP00000441462:G1058R;ENSP00000446243:G1058R;ENSP00000441675:G1058R|.	ENSP00000320445:G921R|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3204213|3204213	1.000000|1.000000	0.71417|0.71417	0.084000|0.084000	0.20598|0.20598	0.536000|0.536000	0.34869|0.34869	7.612000|7.612000	0.82975|0.82975	2.432000|2.432000	0.82394|0.82394	0.550000|0.550000	0.68814|0.68814	GGT|TGG	.		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	3216806	C	G	3216806	3	3	31	1	0	0	0	0	1	0	0	0	3953	594	21	3	7722	3	CSMD1	8	3216806	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	306741	3216806	143147216	1176	6728											
AGPAT5	55326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	6599206	6599206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgtgatttttccagaaGgtacaaggtataatccagag	9	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:6599206G>A	ENST00000285518.6	+	5	832	c.520G>A	c.(520-522)Ggt>Agt	p.G174S	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	174					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TTTTCCAGAAGGTACAAGGTA	0.343																																					p.G174S		.											.	AGPAT5-90	0			c.G520A						.						122	126	125					8																	6599206		2203	4300	6503	SO:0001583	missense	55326	exon5			CCAGAAGGTACAA	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.520G>A	8.37:g.6599206G>A	ENSP00000285518:p.Gly174Ser	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	55	21	NM_018361	0	0	0	0	0	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019270	0.93462	.	.	ENSG00000155189	ENST00000285518	D	0.99850	-7.16	5.53	5.53	0.82687	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96469	0.9347	10	0.87932	D	0	-21.4766	16.9633	0.86278	0.0:0.0:1.0:0.0	.	174	Q9NUQ2	PLCE_HUMAN	S	174	ENSP00000285518:G174S	ENSP00000285518:G174S	G	+	1	0	AGPAT5	6586614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.393000	0.79851	2.587000	0.87381	0.591000	0.81541	GGT	.		0.343	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		A	6599206	G	A	6599206	3	1	31	1	0	0	0	0	1	0	0	0	390	1000	35	3	538	3	AGPAT5	8	6599206	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3382400	6599206	139764816	1177	6729											
TNKS	8658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	9620743	9620743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagataaagaatatcagtcaGtggaagaagaggtaatatac	10	3	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:9620743G>T	ENST00000310430.6	+	22	3387	c.3361G>T	c.(3361-3363)Gtg>Ttg	p.V1121L	TNKS_ENST00000518281.1_Missense_Mutation_p.V884L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1121	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATATCAGTCAGTGGAAGAAGA	0.373																																					p.V1121L		.											.	TNKS-660	0			c.G3361T						.						88	88	88					8																	9620743		2203	4299	6502	SO:0001583	missense	8658	exon22			CAGTCAGTGGAAG	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3361G>T	8.37:g.9620743G>T	ENSP00000311579:p.Val1121Leu	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	47	24	NM_003747	0	0	0	0	0	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339207	0.95783	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14391	2.51;2.51	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.03212	-1.1060	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1121	O95271	TNKS1_HUMAN	L	1121;884	ENSP00000311579:V1121L;ENSP00000429890:V884L	ENSP00000311579:V1121L	V	+	1	0	TNKS	9658153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG	.		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		T	9620743	G	T	9620743	3	4	31	1	0	0	0	0	1	0	0	0	16366	1029	36	3	3447	3	TNKS	8	9620743	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3021537	9620743	136743279	1178	6730											
PRSS55	203074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	10389053	10389053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggttggggccagaccaatgCtggtatgtgactgctcagct	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:10389053C>G	ENST00000328655.3	+	3	636	c.596C>G	c.(595-597)gCt>gGt	p.A199G	PRSS55_ENST00000522210.1_Missense_Mutation_p.A199G|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGACCAATGCTGGTATGTGA	0.587																																					p.A199G		.											.	PRSS55-91	0			c.C596G						.						42	40	40					8																	10389053		2203	4299	6502	SO:0001583	missense	203074	exon3			CCAATGCTGGTAT	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.596C>G	8.37:g.10389053C>G	ENSP00000333003:p.Ala199Gly	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	62	30	NM_001197020	0	0	0	0	0	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247883	0.22880	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88975	-2.45;-2.45	4.98	0.799	0.18667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.294570	0.01400	N	0.013578	T	0.77412	0.4126	N	0.11154	0.105	0.09310	N	1	P	0.39576	0.679	B	0.36030	0.216	T	0.71368	-0.4614	10	0.44086	T	0.13	.	3.488	0.07627	0.163:0.4379:0.3083:0.0907	.	199	Q6UWB4	PRS55_HUMAN	G	199	ENSP00000333003:A199G;ENSP00000430459:A199G	ENSP00000333003:A199G	A	+	2	0	PRSS55	10426463	0.001000	0.12720	0.002000	0.10522	0.085000	0.17905	0.456000	0.21859	0.333000	0.23563	0.655000	0.94253	GCT	.		0.587	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		G	10389053	C	G	10389053	3	3	31	1	0	0	0	0	1	0	0	0	12676	797	28	3	606	3	PRSS55	8	10389053	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	768310	10389053	135974969	1179	6731											
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	10467199	10467199	+	Frame_Shift_Del	DEL	C	C	-													aaccaggctcaagctgggagCcactctgcctctcgctggca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:10467199delC	ENST00000382483.3	-	4	4632	c.4409delG	c.(4408-4410)ggcfs	p.G1470fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1550					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAGCTGGGAGCCACTCTGCCT	0.662																																					p.G1470fs		.											.	RP1L1-139	0			c.4409delG						.						49	56	53					8																	10467199		1995	4203	6198	SO:0001589	frameshift_variant	94137	exon4			TGGGAGCCACTCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4409delG	8.37:g.10467199delC	ENSP00000371923:p.Gly1470fs	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	60	19	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																			.		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			-	10467199	C	-	10467199	7	5	31	1	0	1	0	1	0	0	0	0	13578	739	26	0	2797	0	RP1L1	8	10467199	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	78146	10467199	135896823	1180	6732											
GATA4	2626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	11607705	11607705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaatgcggagggcgagcCtgtgtgcaatgcctgcggcc	16	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:11607705C>A	ENST00000335135.4	+	4	1427	c.869C>A	c.(868-870)cCt>cAt	p.P290H	GATA4_ENST00000528712.1_Missense_Mutation_p.P84H|GATA4_ENST00000532059.1_Missense_Mutation_p.P291H	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	290					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GAGGGCGAGCCTGTGTGCAAT	0.647																																					p.P290H		.											.	GATA4-90	0			c.C869A						.						66	51	56					8																	11607705		2203	4300	6503	SO:0001583	missense	2626	exon4			GCGAGCCTGTGTG	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.869C>A	8.37:g.11607705C>A	ENSP00000334458:p.Pro290His	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	78	9	NM_002052	0	0	0	0	0	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995164	0.74703	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05	5.65	5.65	0.86999	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.64402	D	0.000001	D	0.99722	0.9892	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.97459	1.0033	10	0.87932	D	0	-15.0039	18.7189	0.91686	0.0:1.0:0.0:0.0	.	291;290	B7ZKZ4;P43694	.;GATA4_HUMAN	H	84;84;290;289;291	ENSP00000435043:P84H;ENSP00000435347:P84H;ENSP00000334458:P290H;ENSP00000435712:P291H	ENSP00000259090:P289H	P	+	2	0	GATA4	11645114	1.000000	0.71417	0.950000	0.38849	0.216000	0.24613	7.642000	0.83385	2.644000	0.89710	0.650000	0.86243	CCT	.		0.647	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		A	11607705	C	A	11607705	3	1	31	1	0	0	0	0	1	0	0	0	6281	681	24	3	879	3	GATA4	8	11607705	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1140506	11607705	134756317	1181	6733											
USP17L2	377630	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	11996101	11996101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaagctgtcttgccacagGagccaaatcatcacagaggt	10	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:11996101G>T	ENST00000333796.3	-	1	485	c.169C>A	c.(169-171)Cct>Act	p.P57T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	57					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTTGCCACAGGAGCCAAATCA	0.557																																					p.P57T		.											.	USP17L2-435	0			c.C169A						.						45	60	56					8																	11996101		1249	2704	3953	SO:0001583	missense	377630	exon1			CCACAGGAGCCAA	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.169C>A	8.37:g.11996101G>T	ENSP00000333329:p.Pro57Thr	Somatic	65	2		WXS	Illumina GAIIx	Phase_I	66	12	NM_201402	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	g	9.076	0.998028	0.19043	.	.	ENSG00000223443	ENST00000333796	T	0.12361	2.69	0.36	0.36	0.16097	.	1.054730	0.07599	N	0.923369	T	0.11879	0.0289	L	0.27053	0.805	0.24638	N	0.993581	P	0.39920	0.695	B	0.42495	0.389	T	0.35798	-0.9774	10	0.72032	D	0.01	.	6.6522	0.22969	1.0E-4:0.0:0.9999:0.0	.	57	Q6R6M4	U17L2_HUMAN	T	57	ENSP00000333329:P57T	ENSP00000333329:P57T	P	-	1	0	USP17L2	12033510	1.000000	0.71417	0.027000	0.17364	0.027000	0.11550	3.152000	0.50677	0.469000	0.27268	0.472000	0.43445	CCT	.		0.557	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		T	11996101	G	T	11996101	3	4	31	1	0	0	0	0	1	0	0	0	17097	1174	41	3	1427	3	USP17L2	8	11996101	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	388396	11996101	134367921	1182	6734											
C8orf79	57604	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	12878570	12878570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcaataaaagaaatgGccagggtcttagttcccgga	11	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:12878570G>A	ENST00000524591.2	+	5	871	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	128							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAAGAAATGGCCAGGGTCTT	0.398																																					p.A128T		.											.	KIAA1456-90	0			c.G382A						.						36	34	34					8																	12878570		1848	4091	5939	SO:0001583	missense	57604	exon5			GAAATGGCCAGGG	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.382G>A	8.37:g.12878570G>A	ENSP00000432695:p.Ala128Thr	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	136	22	NM_020844	0	0	0	0	0	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106250	0.94292	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.49432	0.78	5.51	4.57	0.56435	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59188	-0.7501	10	0.38643	T	0.18	-25.6489	15.4581	0.75330	0.0:0.0:0.8607:0.1393	.	128	Q9P272	K1456_HUMAN	T	128;41	ENSP00000432695:A128T	ENSP00000432695:A128T	A	+	1	0	AC135352.2	12922941	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.324000	0.72896	2.749000	0.94314	0.655000	0.94253	GCC	.		0.398	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		A	12878570	G	A	12878570	3	1	31	1	0	0	0	0	1	0	0	0	2445	1203	42	3	392	3	C8orf79	8	12878570	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	882469	12878570	133485452	1183	6735											
PCM1	5108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	17796410	17796410	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacagagaaacgattggatcAgcacagtgtaaagagttgtt	11	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:17796410A>T	ENST00000519253.1	+	5	755	c.504A>T	c.(502-504)tcA>tcT	p.S168S	PCM1_ENST00000325083.8_Silent_p.S168S|PCM1_ENST00000518537.1_Silent_p.S168S|PCM1_ENST00000524226.1_Silent_p.S168S			Q15154	PCM1_HUMAN	pericentriolar material 1	168					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)		CGATTGGATCAGCACAGTGTA	0.428			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																p.S168S		.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1-742	0			c.A504T						.						121	114	116					8																	17796410		1903	4119	6022	SO:0001819	synonymous_variant	5108	exon5			TGGATCAGCACAG		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.504A>T	8.37:g.17796410A>T		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	115	33	NM_006197	0	0	0	0	0	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37																																																																																				.		0.428	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		T	17796410	A	T	17796410	2	4	31	1	0	0	0	0	0	0	0	1	11623	175	7	5		5	PCM1	8	17796410	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4917840	17796410	128567612	1184	6736											
NAT2	10	broad.mit.edu;bcgsc.ca	37	chr8	18257900	18257900	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtctggaagctcctcCcagatgtggcagcctctaga	13	12	2	2	rs144828000	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:18257900C>A	ENST00000286479.3	+	2	494	c.387C>A	c.(385-387)tcC>tcA	p.S129S	NAT2_ENST00000520116.1_5'UTR	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	GAAGCTCCTCCCAGATGTGGC	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.S129S		.											.	NAT2-516	0			c.C387A						.						69	72	71					8																	18257900		2203	4300	6503	SO:0001819	synonymous_variant	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	CTCCTCCCAGATG	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.387C>A	8.37:g.18257900C>A		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	47	10	NM_000015	0	0	0	0	0	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	CCDS6008.1																																																																																			C|1.000;T|0.000		0.502	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		A	18257900	C	A	18257900	2	1	31	1	0	0	0	0	0	0	0	1	10215	610	22	3		3	NAT2	8	18257900	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	461490	18257900	128106122	1185	6737											
NAT2	10	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	18258377	18258377	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacctggtgatggatccctTactatttagaataaggaaca	8	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:18258377T>A	ENST00000286479.3	+	2	971	c.864T>A	c.(862-864)ctT>ctA	p.L288L	NAT2_ENST00000520116.1_Silent_p.L158L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	288					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ATGGATCCCTTACTATTTAGA	0.383									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.L288L		.											.	NAT2-516	0			c.T864A						.						41	44	43					8																	18258377		2189	4233	6422	SO:0001819	synonymous_variant	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	ATCCCTTACTATT	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.864T>A	8.37:g.18258377T>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	30	8	NM_000015	0	0	0	0	0	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	CCDS6008.1																																																																																			.		0.383	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		A	18258377	T	A	18258377	2	1	31	1	0	0	0	0	0	0	0	1	10215	1741	61	5		5	NAT2	8	18258377	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	477	18258377	128105645	1186	6738											
DOK2	9046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	21769421	21769421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccctcacctgtgactgCgctgctgtacaattcatttt	7	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:21769421C>T	ENST00000276420.4	-	3	682	c.424G>A	c.(424-426)Gca>Aca	p.A142T	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	142					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.A142T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCTGTGACTGCGCTGCTGTAC	0.682																																					p.A142T		.											.	DOK2-226	1	Substitution - Missense(1)	endometrium(1)	c.G424A						.						63	57	59					8																	21769421		2184	4285	6469	SO:0001583	missense	9046	exon3			TGACTGCGCTGCT	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.424G>A	8.37:g.21769421C>T	ENSP00000276420:p.Ala142Thr	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	39	9	NM_003974	0	0	0	0	0	Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583409	0.00872	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.44083	1.98;0.93	4.8	-6.96	0.01622	.	1.697300	0.03450	N	0.210492	T	0.12944	0.0314	N	0.03948	-0.315	0.23089	N	0.998317	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.20207	-1.0282	10	0.06236	T	0.91	-5.9592	1.1474	0.01778	0.2582:0.2288:0.1011:0.4119	.	142;142	O60496;A8K7W1	DOK2_HUMAN;.	T	142	ENSP00000276420:A142T;ENSP00000429224:A142T	ENSP00000276420:A142T	A	-	1	0	DOK2	21825367	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.700000	0.00824	-1.914000	0.01078	-0.768000	0.03414	GCA	.		0.682	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		T	21769421	C	T	21769421	3	4	31	1	0	0	0	0	1	0	0	0	4711	768	27	1	826	1	DOK2	8	21769421	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3511044	21769421	124594601	1187	6739											
XPO7	23039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	21842176	21842176	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagatggcctggaagatcccCtggaggatacggggctggtc	17	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:21842176C>G	ENST00000252512.9	+	12	1397	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	XPO7_ENST00000433566.4_Missense_Mutation_p.L434V|XPO7_ENST00000434536.1_Missense_Mutation_p.L442V	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	433				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGAAGATCCCCTGGAGGATAC	0.502																																					p.L433V		.											.	XPO7-273	0			c.C1297G						.						35	35	35					8																	21842176		1911	4121	6032	SO:0001583	missense	23039	exon12			GATCCCCTGGAGG	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1297C>G	8.37:g.21842176C>G	ENSP00000252512:p.Leu433Val	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	41	14	NM_015024	0	0	0	0	0	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995303	0.35226	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	4.53	0.55603	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.75258	0.3825	M	0.85099	2.735	0.80722	D	1	D;D;D	0.55800	0.969;0.973;0.973	P;P;P	0.51974	0.589;0.686;0.686	T	0.75269	-0.3377	10	0.15066	T	0.55	-6.1599	13.7618	0.62971	0.0:0.9252:0.0:0.0748	.	434;442;433	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	V	442;433;434	ENSP00000404853:L442V;ENSP00000252512:L433V;ENSP00000410249:L434V	ENSP00000252512:L433V	L	+	1	2	XPO7	21898122	0.954000	0.32549	0.998000	0.56505	0.660000	0.38997	2.202000	0.42743	1.289000	0.44618	-0.373000	0.07131	CTG	.		0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		G	21842176	C	G	21842176	3	3	31	1	0	0	0	0	1	0	0	0	17498	680	24	3	1395	3	XPO7	8	21842176	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	72755	21842176	124521846	1188	6740											
PIWIL2	55124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22147806	22147806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagatggagggctcttcctGctagctgatgtctcccataa	10	11	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:22147806G>T	ENST00000454009.2	+	10	1637	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	PIWIL2_ENST00000521356.1_Silent_p.L376L|PIWIL2_ENST00000356766.6_Silent_p.L376L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	376					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)		GGCTCTTCCTGCTAGCTGATG	0.478																																					p.L376L		.											.	PIWIL2-91	0			c.G1128T						.						164	131	142					8																	22147806		2203	4300	6503	SO:0001819	synonymous_variant	55124	exon10			CTTCCTGCTAGCT	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.1128G>T	8.37:g.22147806G>T		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	121	40	NM_001135721	0	0	0	0	0	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																			.		0.478	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			T	22147806	G	T	22147806	2	4	31	1	0	0	0	0	0	0	0	1	11997	1306	46	3		3	PIWIL2	8	22147806	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	305630	22147806	124216216	1189	6741											
LOXL2	4017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	23179795	23179795	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggatgggtccgatccCtgcaaggggagaataaacat	15	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:23179795C>T	ENST00000389131.3	-	7	1520		c.e7-1			NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						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)		GGTCCGATCCCTGCAAGGGGA	0.498																																					.		.											.	LOXL2-272	0			c.1151-1G>A						.						101	77	85					8																	23179795		2203	4300	6503	SO:0001630	splice_region_variant	4017	exon8			CGATCCCTGCAAG	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.1151-1G>A	8.37:g.23179795C>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	111	33	NM_002318	0	0	0	0	0	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Splice_Site	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551008	0.45383	.	.	ENSG00000134013	ENST00000389131;ENST00000520349	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9606	0.89084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL2	23235740	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	.	.		0.498	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		Intron	T	23179795	C	T	23179795	5	4	31	1	0	0	0	0	0	0	1	0	8935	695	24	3	1206	3	LOXL2	8	23179795	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1031989	23179795	123184227	1190	6742											
NKX3-1	4824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	23538992	23538992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcccgttcaggggccgaCaggtacttctgatggctgaa	15	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:23538992C>A	ENST00000380871.4	-	2	484	c.447G>T	c.(445-447)ctG>ctT	p.L149L	NKX3-1_ENST00000523261.1_Silent_p.L74L	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	149					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CAGGGGCCGACAGGTACTTCT	0.562																																					p.L149L		.											.	NKX3-1-90	0			c.G447T						.						144	147	146					8																	23538992		2203	4300	6503	SO:0001819	synonymous_variant	4824	exon2			GGCCGACAGGTAC		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.447G>T	8.37:g.23538992C>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	64	21	NM_006167	0	0	0	0	0	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	CCDS6042.1																																																																																			.		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			A	23538992	C	A	23538992	2	1	31	1	0	0	0	0	0	0	0	1	10494	465	17	3		3	NKX3-1	8	23538992	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	359197	23538992	122825030	1191	6743											
NEFL	4747	hgsc.bcm.edu	37	chr8	24813479	24813479	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcggcgtcctcgcggCtcagcacctcctcttcatag	10	18	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:24813479C>A	ENST00000221169.5	-	0	1145				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCCTCGCGGCTCAGCACCTC	0.687																																					p.S184I		.											.	NEFL-24	0			c.G551T						.						14	15	14					8																	24813479		1962	4135	6097			4747	exon1			TCGCGGCTCAGCA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813479C>A		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	40	12	NM_006158	0	0	0	0	0	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																				.		0.687	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		A	24813479	C	A	24813479	1	1	31	0	1	0	0	0	0	0	0	0	10354	797	28	3		3	NEFL	8	24813479	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1274487	24813479	121550543	1192	6744											
DOCK5	80005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	25101270	25101270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcacatcctggagatgtacGagggtaagtctggctggcct	13	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:25101270G>T	ENST00000276440.7	+	2	168	c.124G>T	c.(124-126)Gag>Tag	p.E42*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.E42*|DOCK5_ENST00000410074.1_Nonsense_Mutation_p.E42*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	42	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAGATGTACGAGGGTAAGTC	0.428																																					p.E42X	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.G124T						.						99	79	86					8																	25101270		2203	4300	6503	SO:0001587	stop_gained	80005	exon2			ATGTACGAGGGTA		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.124G>T	8.37:g.25101270G>T	ENSP00000276440:p.Glu42*	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	55	18	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	38	6.785750	0.97837	.	.	ENSG00000147459	ENST00000410074;ENST00000481100;ENST00000276440	.	.	.	6.16	6.16	0.99307	.	0.113471	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.7766	0.88510	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000276440:E42X	E	+	1	0	DOCK5	25157187	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.561000	0.73955	2.937000	0.99478	0.650000	0.86243	GAG	.		0.428	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25101270	G	T	25101270	4	4	31	1	0	0	0	0	0	1	0	0	4704	1059	37	2	130	2	DOCK5	8	25101270	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	287791	25101270	121262752	1193	6745											
SCARA3	51435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	27516983	27516983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacgtccggaacctctcCatgatcgtggaggagatgaa	11	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27516983C>T	ENST00000301904.3	+	5	1316	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	SCARA3_ENST00000337221.4_Silent_p.S432S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	432					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGAACCTCTCCATGATCGTGG	0.582																																					p.S432S		.											.	SCARA3-228	0			c.C1296T						.						49	41	43					8																	27516983		2203	4300	6503	SO:0001819	synonymous_variant	51435	exon5			CCTCTCCATGATC	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1296C>T	8.37:g.27516983C>T		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	93	17	NM_182826	0	0	0	0	0	Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	CCDS34871.1																																																																																			.		0.582	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		T	27516983	C	T	27516983	2	4	31	1	0	0	0	0	0	0	0	1	13924	581	21	3		3	SCARA3	8	27516983	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2415713	27516983	118847039	1194	6746											
ESCO2	157570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	27646479	27646479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccacaggtttctggAaggaatcaaatatgtggtga	11	7	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27646479A>T	ENST00000305188.8	+	7	1485	c.1247A>T	c.(1246-1248)gAa>gTa	p.E416V	ESCO2_ENST00000397418.2_Missense_Mutation_p.E64V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	416					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGGTTTCTGGAAGGAATCAAA	0.418									SC Phocomelia syndrome																												p.E416V		.											.	ESCO2-90	0			c.A1247T						.						110	101	104					8																	27646479		2203	4300	6503	SO:0001583	missense	157570	exon7	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	TTCTGGAAGGAAT	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1247A>T	8.37:g.27646479A>T	ENSP00000306999:p.Glu416Val	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	59	17	NM_001017420	0	0	0	0	0	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.933137|3.933137	0.73442|0.73442	.|.	.|.	ENSG00000171320|ENSG00000171320	ENST00000305188;ENST00000397418|ENST00000518262	T;T|.	0.73575|.	-0.31;-0.76|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.347229|.	0.34828|.	N|.	0.003660|.	T|.	0.67458|.	0.2895|.	M|M	0.76002|0.76002	2.32|2.32	0.47698|0.47698	D|D	0.99949|0.99949	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|.	0.69247|.	-0.5195|.	10|.	0.87932|.	D|.	0|.	-5.8194|-5.8194	8.9422|8.9422	0.35736|0.35736	0.9184:0.0:0.0816:0.0|0.9184:0.0:0.0816:0.0	.|.	416|.	Q56NI9|.	ESCO2_HUMAN|.	V|X	416;64|121	ENSP00000306999:E416V;ENSP00000380563:E64V|.	ENSP00000306999:E416V|.	E|K	+|+	2|1	0|0	ESCO2|ESCO2	27702398|27702398	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	3.543000|3.543000	0.53633|0.53633	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAA|AAG	.		0.418	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		T	27646479	A	T	27646479	3	4	31	1	0	0	0	0	1	0	0	0	5265	246	9	5	1269	5	ESCO2	8	27646479	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	129496	27646479	118717543	1195	6747											
SCARA5	286133	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	27779158	27779158	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcaggtcctcggtgacCgcgttgagcatggccagctc	15	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27779158C>A	ENST00000354914.3	-	4	1331	c.846G>T	c.(844-846)gcG>gcT	p.A282A	SCARA5_ENST00000524352.1_Silent_p.A282A|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.A239A|SCARA5_ENST00000518030.1_Silent_p.A239A	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	282					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)		CCTCGGTGACCGCGTTGAGCA	0.672																																					p.A282A		.											.	SCARA5-91	0			c.G846T						.						77	55	62					8																	27779158		2203	4300	6503	SO:0001819	synonymous_variant	286133	exon4			GGTGACCGCGTTG	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.846G>T	8.37:g.27779158C>A		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	213	61	NM_173833	0	0	0	0	0	Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																			.		0.672	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		A	27779158	C	A	27779158	2	1	31	1	0	0	0	0	0	0	0	1	13925	639	23	2		2	SCARA5	8	27779158	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	132679	27779158	118584864	1196	6748											
C8orf80	389643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	27898604	27898604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggatgcagcggtaagaagtCctggcggtcctgaccccttc	13	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27898604C>A	ENST00000413272.2	-	13	1717	c.1575G>T	c.(1573-1575)agG>agT	p.R525S	NUGGC_ENST00000341513.6_Missense_Mutation_p.R525S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	525					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GGTAAGAAGTCCTGGCGGTCC	0.572																																					p.R525S		.											.	.	0			c.G1575T						.						49	51	50					8																	27898604		2062	4216	6278	SO:0001583	missense	389643	exon13			AGAAGTCCTGGCG	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1575G>T	8.37:g.27898604C>A	ENSP00000408697:p.Arg525Ser	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	68	23	NM_001010906	0	0	0	0	0	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048643	0.19827	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.32988	1.43;1.43	5.65	4.78	0.61160	.	0.358640	0.29009	N	0.013435	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	0.999994	P	0.35656	0.514	B	0.26864	0.074	T	0.14924	-1.0455	10	0.08837	T	0.75	-7.3799	10.22	0.43192	0.0:0.9097:0.0:0.0903	.	525	Q68CJ6	SLIP_HUMAN	S	525	ENSP00000408697:R525S;ENSP00000345031:R525S	ENSP00000345031:R525S	R	-	3	2	C8orf80	27954523	0.072000	0.21174	0.538000	0.28064	0.064000	0.16182	0.408000	0.21065	1.375000	0.46248	0.650000	0.86243	AGG	.		0.572	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		A	27898604	C	A	27898604	3	1	31	1	0	0	0	0	1	0	0	0	2446	854	30	3	843	3	C8orf80	8	27898604	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	119446	27898604	118465418	1197	6749											
PURG	29942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	30889911	30889911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccggtggcctttcaggcCcaggtgggcatagtgctcga	15	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:30889911C>A	ENST00000475541.1	-	1	1320	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.G130C	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	130						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTCAGGCCCAGGTGGGCA	0.597																																					p.G130C		.											.	PURG-131	0			c.G388T						.						83	86	85					8																	30889911		2203	4300	6503	SO:0001583	missense	29942	exon1			TCAGGCCCAGGTG	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.388G>T	8.37:g.30889911C>A	ENSP00000418721:p.Gly130Cys	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	39	16	NM_013357	0	0	0	0	0	Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187380	0.78789	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.34667	1.35;1.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68194	-0.5473	10	0.72032	D	0.01	-7.3146	18.1426	0.89644	0.0:1.0:0.0:0.0	.	130;130	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	C	130	ENSP00000345168:G130C;ENSP00000418721:G130C	ENSP00000345168:G130C	G	-	1	0	PURG	31009453	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.686000	0.84128	2.346000	0.79739	0.655000	0.94253	GGC	.		0.597	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		A	30889911	C	A	30889911	3	1	31	1	0	0	0	0	1	0	0	0	12874	623	22	3	768	3	PURG	8	30889911	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2991307	30889911	115474111	1198	6750											
PPAPDC1B	84513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	38123741	38123741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagaaaggcacagaaCctccaagatttcccacggcc	10	13	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:38123741C>A	ENST00000424479.2	-	6	572	c.552G>T	c.(550-552)agG>agT	p.R184S	PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000422581.2_Missense_Mutation_p.R184S|PPAPDC1B_ENST00000529359.1_Missense_Mutation_p.R143S|PPAPDC1B_ENST00000531823.1_Missense_Mutation_p.R52S	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	184					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGCACAGAACCTCCAAGATT	0.502																																					p.R184S		.											.	.	0			c.G552T						.						83	89	87					8																	38123741		2015	4176	6191	SO:0001583	missense	84513	exon6			ACAGAACCTCCAA	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.552G>T	8.37:g.38123741C>A	ENSP00000392553:p.Arg184Ser	Somatic	403	0		WXS	Illumina GAIIx	Phase_I	333	58	NM_032483	0	0	0	0	0	C9JKF5|Q3KQX6|Q9BY45	Missense_Mutation	SNP	ENST00000424479.2	37	CCDS47841.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.31|19.31	3.803689|3.803689	0.70682|0.70682	.|.	.|.	ENSG00000147535|ENSG00000147535	ENST00000534339|ENST00000529359;ENST00000424479;ENST00000524616;ENST00000531823;ENST00000422581	.|T;T;T;T;T	.|0.50277	.|0.79;0.75;0.75;0.76;0.75	5.42|5.42	2.65|2.65	0.31530|0.31530	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	.|0.105100	.|0.64402	.|D	.|0.000007	T|T	0.55593|0.55593	0.1930|0.1930	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|P;P	.|0.50443	.|0.593;0.935	.|P;P	.|0.57620	.|0.591;0.824	T|T	0.54629|0.54629	-0.8265|-0.8265	5|10	.|0.59425	.|D	.|0.04	-24.544|-24.544	7.5606|7.5606	0.27849|0.27849	0.0:0.6672:0.0:0.3328|0.0:0.6672:0.0:0.3328	.|.	.|184;184	.|Q8NEB5-2;Q8NEB5	.|.;PPC1B_HUMAN	V|S	164|143;184;165;52;184	.|ENSP00000434916:R143S;ENSP00000392553:R184S;ENSP00000432122:R165S;ENSP00000437248:R52S;ENSP00000390622:R184S	.|ENSP00000390622:R184S	G|R	-|-	2|3	0|2	PPAPDC1B|PPAPDC1B	38242898|38242898	0.472000|0.472000	0.25870|0.25870	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	-0.182000|-0.182000	0.09726|0.09726	0.674000|0.674000	0.31244|0.31244	0.557000|0.557000	0.71058|0.71058	GGT|AGG	.		0.502	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483		A	38123741	C	A	38123741	3	1	31	1	0	0	0	0	1	0	0	0	12333	506	18	3	271	3	PPAPDC1B	8	38123741	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7233830	38123741	108240281	1199	6751											
ADAM9	8754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	38880770	38880770	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgggggtgctggtgatgtGctggggaacttcgtgcagtg	20	5	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:38880770G>T	ENST00000487273.2	+	9	918	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	280	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			CTGGTGATGTGCTGGGGAACT	0.418																																					p.V280V		.											.	ADAM9-227	0			c.G840T						.						149	136	140					8																	38880770		2203	4300	6503	SO:0001819	synonymous_variant	8754	exon9			TGATGTGCTGGGG	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.840G>T	8.37:g.38880770G>T		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	184	81	NM_003816	0	0	0	0	0	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	CCDS6112.1																																																																																			.		0.418	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			T	38880770	G	T	38880770	2	4	31	1	0	0	0	0	0	0	0	1	253	1306	46	3		3	ADAM9	8	38880770	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	757029	38880770	107483252	1200	6752											
MYST3	7994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	41790513	41790513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggttgagagtagctgCcggcaccaaaatcccctgga	12	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:41790513C>T	ENST00000396930.3	-	18	5768	c.5225G>A	c.(5224-5226)gGc>gAc	p.G1742D	KAT6A_ENST00000406337.1_Missense_Mutation_p.G1742D|KAT6A_ENST00000265713.2_Missense_Mutation_p.G1742D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1742					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGAGTAGCTGCCGGCACCAAA	0.502																																					p.G1742D		.											.	.	0			c.G5225A						.						169	170	169					8																	41790513		2203	4300	6503	SO:0001583	missense	7994	exon18			TAGCTGCCGGCAC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5225G>A	8.37:g.41790513C>T	ENSP00000380136:p.Gly1742Asp	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	92	37	NM_001099412	0	0	0	0	0	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417510	0.42918	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.70399	-0.48;-0.48;-0.48	5.63	5.63	0.86233	.	0.220723	0.39475	N	0.001342	T	0.68109	0.2965	L	0.32530	0.975	0.58432	D	0.999997	D	0.56521	0.976	P	0.47102	0.537	T	0.67031	-0.5773	10	0.35671	T	0.21	-8.0146	19.69	0.95996	0.0:1.0:0.0:0.0	.	1742	Q92794	KAT6A_HUMAN	D	1742	ENSP00000265713:G1742D;ENSP00000385888:G1742D;ENSP00000380136:G1742D	ENSP00000265713:G1742D	G	-	2	0	KAT6A	41909670	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.437000	0.80417	2.643000	0.89663	0.650000	0.86243	GGC	.		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41790513	C	T	41790513	3	4	31	1	0	0	0	0	1	0	0	0	10142	739	26	3	793	3	MYST3	8	41790513	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2909743	41790513	104573509	1201	6753											
PXDNL	137902	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	52233364	52233364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaatgcagtgagtgcAgtcttctttcatccagcgct	8	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:52233364A>C	ENST00000356297.4	-	22	4340	c.4240T>G	c.(4240-4242)Tgc>Ggc	p.C1414G	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1414	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				CAGTGAGTGCAGTCTTCTTTC	0.493																																					p.C1414G		.											.	PXDNL-70	0			c.T4240G						.						128	140	136					8																	52233364		1933	4132	6065	SO:0001583	missense	137902	exon22			GAGTGCAGTCTTC		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.4240T>G	8.37:g.52233364A>C	ENSP00000348645:p.Cys1414Gly	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	104	52	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666007	0.29604	.	.	ENSG00000147485	ENST00000356297	D	0.92099	-2.97	4.26	4.26	0.50523	von Willebrand factor, type C (4);	.	.	.	.	D	0.96664	0.8911	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96740	0.9546	9	0.87932	D	0	.	9.7719	0.40595	1.0:0.0:0.0:0.0	.	1414	A1KZ92	PXDNL_HUMAN	G	1414	ENSP00000348645:C1414G	ENSP00000348645:C1414G	C	-	1	0	PXDNL	52395917	0.805000	0.28982	0.206000	0.23566	0.009000	0.06853	1.660000	0.37397	1.557000	0.49525	0.533000	0.62120	TGC	.		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52233364	A	C	52233364	3	2	31	1	0	0	0	0	1	0	0	0	12893	188	7	5	159	5	PXDNL	8	52233364	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	10442851	52233364	94130658	1202	6754											
PXDNL	137902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	52284587	52284587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccggctcagggacgcctgCttcagctgagtgagttgtgc	14	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:52284587C>A	ENST00000356297.4	-	19	3847	c.3747G>T	c.(3745-3747)aaG>aaT	p.K1249N	PXDNL_ENST00000543296.1_Missense_Mutation_p.K1249N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1249					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)				GGGACGCCTGCTTCAGCTGAG	0.498																																					p.K1249N		.											.	PXDNL-70	0			c.G3747T						.						44	43	44					8																	52284587		1917	4132	6049	SO:0001583	missense	137902	exon19			CGCCTGCTTCAGC		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.3747G>T	8.37:g.52284587C>A	ENSP00000348645:p.Lys1249Asn	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	124	63	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.081685|2.081685	0.36758|0.36758	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.72942|.	-0.7;-0.7|.	4.89|4.89	-6.34|-6.34	0.01982|0.01982	.|.	0.302465|.	0.22770|.	U|.	0.055841|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.84082|0.84082	2.675|2.675	0.26794|0.26794	N|N	0.969347|0.969347	D|.	0.67145|.	0.996|.	D|.	0.70227|.	0.968|.	T|T	0.66416|0.66416	-0.5929|-0.5929	10|5	0.66056|.	D|.	0.02|.	.|.	16.2281|16.2281	0.82311|0.82311	0.0:0.7562:0.0:0.2438|0.0:0.7562:0.0:0.2438	.|.	1249|.	A1KZ92|.	PXDNL_HUMAN|.	N|I	1249|323	ENSP00000348645:K1249N;ENSP00000444865:K1249N|.	ENSP00000348645:K1249N|.	K|S	-|-	3|2	2|0	PXDNL|PXDNL	52447140|52447140	0.149000|0.149000	0.22717|0.22717	0.000000|0.000000	0.03702|0.03702	0.222000|0.222000	0.24845|0.24845	-0.083000|-0.083000	0.11286|0.11286	-1.586000|-1.586000	0.01632|0.01632	-0.339000|-0.339000	0.08088|0.08088	AAG|AGC	.		0.498	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52284587	C	A	52284587	3	1	31	1	0	0	0	0	1	0	0	0	12893	796	28	3	664	3	PXDNL	8	52284587	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	51223	52284587	94079435	1203	6755											
RP1	6101	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	55537620	55537620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctctgcagatgtgtcacCtatggagcgaagcagtaatc	10	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:55537620C>A	ENST00000220676.1	+	4	1326	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	393					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)			GATGTGTCACCTATGGAGCGA	0.423																																					p.P393H	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.C1178A						.						77	74	75					8																	55537620		2203	4300	6503	SO:0001583	missense	6101	exon4			TGTCACCTATGGA	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.1178C>A	8.37:g.55537620C>A	ENSP00000220676:p.Pro393His	Somatic	198	2		WXS	Illumina GAIIx	Phase_I	216	62	NM_006269	0	0	0	0	0		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	4.173	0.030700	0.08101	.	.	ENSG00000104237	ENST00000220676	T	0.29397	1.57	4.03	2.06	0.26882	.	0.641212	0.13859	N	0.357835	T	0.26810	0.0656	L	0.44542	1.39	0.09310	N	1	D	0.54047	0.964	P	0.46975	0.533	T	0.14559	-1.0468	10	0.66056	D	0.02	.	3.3892	0.07282	0.0:0.5264:0.2209:0.2527	.	393	P56715	RP1_HUMAN	H	393	ENSP00000220676:P393H	ENSP00000220676:P393H	P	+	2	0	RP1	55700173	0.424000	0.25490	0.003000	0.11579	0.027000	0.11550	0.783000	0.26802	0.700000	0.31782	0.650000	0.86243	CCT	.		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55537620	C	A	55537620	3	1	31	1	0	0	0	0	1	0	0	0	13577	681	24	3	1188	3	RP1	8	55537620	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3253033	55537620	90826402	1204	6756											
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	56435991	56435991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcaccatcgccgccagGgtcatcacgtttgccctctt	7	16	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:56435991G>T	ENST00000327381.6	+	3	1258	c.1158G>T	c.(1156-1158)agG>agT	p.R386S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	386						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)			TCGCCGCCAGGGTCATCACGT	0.547																																					p.R386S		.											.	XKR4-92	0			c.G1158T						.						315	245	269					8																	56435991		2203	4300	6503	SO:0001583	missense	114786	exon3			CGCCAGGGTCATC	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.1158G>T	8.37:g.56435991G>T	ENSP00000328326:p.Arg386Ser	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	270	115	NM_052898	0	0	0	0	0	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108311	0.56291	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79352	-1.26	5.56	0.104	0.14531	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.85041	2.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.81562	-0.0876	10	0.87932	D	0	-9.7419	5.1706	0.15108	0.4328:0.1418:0.4255:0.0	.	386	Q5GH76	XKR4_HUMAN	S	386	ENSP00000328326:R386S	ENSP00000328326:R386S	R	+	3	2	XKR4	56598545	0.969000	0.33509	0.997000	0.53966	0.981000	0.71138	0.133000	0.15912	-0.050000	0.13356	0.557000	0.71058	AGG	.		0.547	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56435991	G	T	56435991	3	4	31	1	0	0	0	0	1	0	0	0	17482	1223	43	3	1168	3	XKR4	8	56435991	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	898371	56435991	89928031	1205	6757											
TOX	9760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	59750748	59750748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcggcctgagtatcacgAaagaataacgcataggcaga	12	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:59750748A>T	ENST00000361421.1	-	5	1036	c.816T>A	c.(814-816)ttT>ttA	p.F272L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	272						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F272F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAGTATCACGAAAGAATAACG	0.473																																					p.F272L	Pancreas(161;610 1969 17913 21374 22725)	.											.	TOX-227	1	Substitution - coding silent(1)	large_intestine(1)	c.T816A						.						115	114	114					8																	59750748		2203	4300	6503	SO:0001583	missense	9760	exon5			ATCACGAAAGAAT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.816T>A	8.37:g.59750748A>T	ENSP00000354842:p.Phe272Leu	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	164	73	NM_014729	0	0	0	0	0	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552917	0.86127	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.39997	1.05	5.59	0.553	0.17235	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.28649	0.875	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.17228	-1.0376	9	.	.	.	.	9.3957	0.38401	0.458:0.0:0.542:0.0	.	272	O94900	TOX_HUMAN	L	272;30	ENSP00000354842:F272L	.	F	-	3	2	TOX	59913302	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.076000	0.30729	0.098000	0.17522	0.482000	0.46254	TTT	.		0.473	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		T	59750748	A	T	59750748	3	4	31	1	0	0	0	0	1	0	0	0	16425	243	9	5	784	5	TOX	8	59750748	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3314757	59750748	86613274	1206	6758											
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	61654436	61654436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccatgtggggccccaggGctgttcaggtaccagaccag	14	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:61654436G>T	ENST00000423902.2	+	2	924	c.445G>T	c.(445-447)Gct>Tct	p.A149S	CHD7_ENST00000525508.1_Missense_Mutation_p.A149S|CHD7_ENST00000524602.1_Missense_Mutation_p.A149S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	149					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)			GGGCCCCAGGGCTGTTCAGGT	0.657																																					p.A149S		.											.	CHD7-141	0			c.G445T						.						30	36	34					8																	61654436		2086	4241	6327	SO:0001583	missense	55636	exon2			CCCAGGGCTGTTC	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.445G>T	8.37:g.61654436G>T	ENSP00000392028:p.Ala149Ser	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	231	116	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052870	0.36181	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.56103	0.48;0.48;0.48	5.24	5.24	0.73138	.	0.000000	0.40469	N	0.001086	T	0.41903	0.1179	L	0.38175	1.15	0.41672	D	0.989245	P	0.43750	0.816	B	0.35039	0.194	T	0.34775	-0.9815	10	0.25106	T	0.35	-9.8896	18.8218	0.92100	0.0:0.0:1.0:0.0	.	149	Q9P2D1	CHD7_HUMAN	S	149	ENSP00000392028:A149S;ENSP00000437061:A149S;ENSP00000436027:A149S	ENSP00000307304:A149S	A	+	1	0	CHD7	61816990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.025000	0.64097	2.471000	0.83476	0.655000	0.94253	GCT	.		0.657	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61654436	G	T	61654436	3	4	31	1	0	0	0	0	1	0	0	0	3337	1203	42	3	447	3	CHD7	8	61654436	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1903688	61654436	84709586	1207	6759											
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	61765660	61765660	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	accctgagttatccttcttgGatgcacataaaaactttgct	6	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:61765660G>C	ENST00000423902.2	+	31	6855	c.6376G>C	c.(6376-6378)Gat>Cat	p.D2126H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2126					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)			ATCCTTCTTGGATGCACATAA	0.493																																					p.D2126H		.											.	CHD7-141	0			c.G6376C						.						74	79	77					8																	61765660		1982	4162	6144	SO:0001583	missense	55636	exon31			TTCTTGGATGCAC	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.6376G>C	8.37:g.61765660G>C	ENSP00000392028:p.Asp2126His	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	249	110	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374429	0.82573	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.73363	-0.74	5.41	5.41	0.78517	.	0.197467	0.43747	D	0.000527	T	0.76111	0.3942	L	0.47190	1.495	0.54753	D	0.999983	P	0.40660	0.726	P	0.45913	0.497	T	0.76154	-0.3063	10	0.46703	T	0.11	-10.1956	19.215	0.93772	0.0:0.0:1.0:0.0	.	2126	Q9P2D1	CHD7_HUMAN	H	2126	ENSP00000392028:D2126H	ENSP00000307304:D2126H	D	+	1	0	CHD7	61928214	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.854000	0.99522	2.539000	0.85634	0.655000	0.94253	GAT	.		0.493	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		C	61765660	G	C	61765660	3	2	31	1	0	0	0	0	1	0	0	0	3337	1174	41	3	6494	3	CHD7	8	61765660	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	111224	61765660	84598362	1208	6760											
YTHDF3	253943	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	64099049	64099049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttatggctatccacctagTtctcttgggagagctattac	9	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:64099049T>G	ENST00000539294.1	+	4	793	c.477T>G	c.(475-477)agT>agG	p.S159R	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	160							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCCACCTAGTTCTCTTGGGA	0.453																																					.		.											.	.	0			.						.						64	63	63					8																	64099049		1995	4192	6187	SO:0001583	missense	253943	.			ACCTAGTTCTCTT	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.477T>G	8.37:g.64099049T>G	ENSP00000473496:p.Ser159Arg	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	262	84	.	0	0	0	0	0	B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37																																																																																				.		0.453	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		G	64099049	T	G	64099049	3	3	31	1	0	0	0	0	1	0	0	0	17549	1725	60	5	493	5	YTHDF3	8	64099049	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2333389	64099049	82264973	1209	6761											
VCPIP1	80124	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	67576973	67576973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaacagtcctgggttgccCtttttgttcttgttttaact	8	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:67576973C>A	ENST00000310421.4	-	1	2479	c.2221G>T	c.(2221-2223)Ggg>Tgg	p.G741W	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	741					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)			CTGGGTTGCCCTTTTTGTTCT	0.428																																					p.G741W	NSCLC(179;265 2915 6144 43644)	.											.	VCPIP1-662	0			c.G2221T						.						177	174	175					8																	67576973		2203	4300	6503	SO:0001583	missense	80124	exon1			GTTGCCCTTTTTG	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.2221G>T	8.37:g.67576973C>A	ENSP00000309031:p.Gly741Trp	Somatic	131	1		WXS	Illumina GAIIx	Phase_I	179	38	NM_025054	0	0	0	0	0	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973516	0.53720	.	.	ENSG00000175073	ENST00000310421	T	0.38240	1.15	5.55	5.55	0.83447	.	0.058079	0.64402	D	0.000002	T	0.43787	0.1263	L	0.47716	1.5	0.52099	D	0.999943	P	0.50710	0.938	P	0.47673	0.554	T	0.41360	-0.9513	10	0.87932	D	0	-3.5529	19.5026	0.95103	0.0:1.0:0.0:0.0	.	741	Q96JH7	VCIP1_HUMAN	W	741	ENSP00000309031:G741W	ENSP00000309031:G741W	G	-	1	0	VCPIP1	67739527	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.416000	0.66417	2.587000	0.87381	0.655000	0.94253	GGG	.		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67576973	C	A	67576973	3	1	31	1	0	0	0	0	1	0	0	0	17190	681	24	3	1459	3	VCPIP1	8	67576973	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3477924	67576973	78787049	1210	6762											
LRRC67	286187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	67926709	67926709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctatacatgaaataCaattgttttgtaggtacaag	8	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:67926709C>G	ENST00000324682.5	-	3	392	c.248G>C	c.(247-249)tGt>tCt	p.C83S	PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000522909.1_Missense_Mutation_p.C83S	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	83					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ACATGAAATACAATTGTTTTG	0.269																																					p.C83S		.											.	.	0			c.G248C						.						93	106	101					8																	67926709		2203	4294	6497	SO:0001583	missense	286187	exon3			GAAATACAATTGT	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.248G>C	8.37:g.67926709C>G	ENSP00000315035:p.Cys83Ser	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	81	25	NM_001013626	0	0	0	0	0		Missense_Mutation	SNP	ENST00000324682.5	37	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362473	0.24684	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.07114	3.22;3.22	5.76	3.98	0.46160	.	0.136969	0.64402	D	0.000002	T	0.04227	0.0117	N	0.08118	0	0.41118	D	0.98579	B	0.06786	0.001	B	0.11329	0.006	T	0.31447	-0.9943	10	0.07990	T	0.79	-0.0324	12.4696	0.55779	0.0:0.8644:0.0:0.1356	.	83	Q7Z4L9-2	.	S	83	ENSP00000429721:C83S;ENSP00000315035:C83S	ENSP00000315035:C83S	C	-	2	0	LRRC67	68089263	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.035000	0.49759	0.792000	0.33850	-0.229000	0.12294	TGT	.		0.269	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		G	67926709	C	G	67926709	3	3	31	1	0	0	0	0	1	0	0	0	9054	478	17	3	454	3	LRRC67	8	67926709	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	349736	67926709	78437313	1211	6763											
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	69069640	69069640	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agataaatgcagcctcactgGaaaaggtcaaacagtacaac	8	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:69069640G>T	ENST00000288368.4	+	35	4592	c.4315G>T	c.(4315-4317)Gaa>Taa	p.E1439*		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	1439					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						AGCCTCACTGGAAAAGGTCAA	0.343																																					p.E1439X		.											.	PREX2-390	0			c.G4315T						.						105	105	105					8																	69069640		2203	4300	6503	SO:0001587	stop_gained	80243	exon35			TCACTGGAAAAGG	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.4315G>T	8.37:g.69069640G>T	ENSP00000288368:p.Glu1439*	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	295	94	NM_024870	0	0	0	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	49	15.199502	0.99826	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.7	5.7	0.88788	.	0.114726	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	.	.	.	X	1439	.	ENSP00000288368:E1439X	E	+	1	0	PREX2	69232194	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.429000	0.97481	2.683000	0.91414	0.650000	0.86243	GAA	.		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		T	69069640	G	T	69069640	4	4	31	1	0	0	0	0	0	1	0	0	12519	1175	41	3	4682	3	PREX2	8	69069640	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1142931	69069640	77294382	1212	6764											
PRDM14	63978	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	70981760	70981760	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctgctcaggaagggCggcacttccctggggacgtg	17	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:70981760C>A	ENST00000276594.2	-	2	537	c.336G>T	c.(334-336)ccG>ccT	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632																																					p.P112P	NSCLC(129;99 1813 5906 40656 46114)	.											.	PRDM14-93	0			c.G336T						.						35	26	29					8																	70981760		2203	4300	6503	SO:0001819	synonymous_variant	63978	exon2			GAAGGGCGGCACT	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.336G>T	8.37:g.70981760C>A		Somatic	70	1		WXS	Illumina GAIIx	Phase_I	98	27	NM_024504	0	0	0	0	0	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			.		0.632	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			A	70981760	C	A	70981760	2	1	31	1	0	0	0	0	0	0	0	1	12497	755	27	2		2	PRDM14	8	70981760	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1912120	70981760	75382262	1213	6765											
NCOA2	10499	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	71036168	71036168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtaggcacggaggtcactGaggtcatgctgatctgtcct	13	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:71036168G>A	ENST00000452400.2	-	21	4425	c.4244C>T	c.(4243-4245)tCa>tTa	p.S1415L	NCOA2_ENST00000267974.4_Missense_Mutation_p.S503L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1415					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)			GGAGGTCACTGAGGTCATGCT	0.527			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																p.S1415L		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2-639	0			c.C4244T						.						124	119	121					8																	71036168		2178	4260	6438	SO:0001583	missense	10499	exon21			GTCACTGAGGTCA	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.4244C>T	8.37:g.71036168G>A	ENSP00000399968:p.Ser1415Leu	Somatic	206	2		WXS	Illumina GAIIx	Phase_I	323	43	NM_006540	0	0	0	0	0	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.452795|5.452795	0.96223|0.96223	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.08282	.|4.54;3.11	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.23171	.|0.0560	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.994	.|D;D	.|0.74348	.|0.956;0.983	.|T	.|0.00115	.|-1.2039	.|10	.|0.87932	.|D	.|0	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;1415	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	X|L	516|1415;503	.|ENSP00000399968:S1415L;ENSP00000267974:S503L	.|ENSP00000267974:S503L	Q|S	-|-	1|2	0|0	NCOA2|NCOA2	71198722|71198722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.260000|7.260000	0.78391|0.78391	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|TCA	.		0.527	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			A	71036168	G	A	71036168	3	1	31	1	0	0	0	0	1	0	0	0	10268	1294	45	3	162	3	NCOA2	8	71036168	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	54408	71036168	75327854	1214	6766											
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	73480116	73480116	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcaaccacgaagtcctGtggagaacgctggacaggct	13	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:73480116G>T	ENST00000523207.1	+	2	735	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	49					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)	ACGAAGTCCTGTGGAGAACGC	0.562																																					p.L49L		.											.	KCNB2-158	0			c.G147T						.						77	79	78					8																	73480116		2203	4300	6503	SO:0001819	synonymous_variant	9312	exon2			AGTCCTGTGGAGA	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.147G>T	8.37:g.73480116G>T		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	199	59	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																			.		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73480116	G	T	73480116	2	4	31	1	0	0	0	0	0	0	0	1	8040	1364	48	3		3	KCNB2	8	73480116	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2443948	73480116	72883906	1215	6767											
KCNB2	9312	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	73849028	73849028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagtccgccaacacaaagGactccgccgacgataatcac	9	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:73849028G>T	ENST00000523207.1	+	3	2026	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	480					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)	CAACACAAAGGACTCCGCCGA	0.512																																					p.D480Y		.											.	KCNB2-158	0			c.G1438T						.						72	81	78					8																	73849028		2203	4300	6503	SO:0001583	missense	9312	exon3			ACAAAGGACTCCG	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.1438G>T	8.37:g.73849028G>T	ENSP00000430846:p.Asp480Tyr	Somatic	86	2		WXS	Illumina GAIIx	Phase_I	115	32	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285031	0.40394	.	.	ENSG00000182674	ENST00000523207	T	0.32515	1.45	5.74	4.87	0.63330	.	2.214800	0.02269	N	0.068296	T	0.51092	0.1654	L	0.49126	1.545	0.36381	D	0.861908	P	0.47677	0.899	P	0.58660	0.843	T	0.03453	-1.1035	10	0.56958	D	0.05	.	10.8103	0.46543	0.144:0.0:0.856:0.0	.	480	Q92953	KCNB2_HUMAN	Y	480	ENSP00000430846:D480Y	ENSP00000430846:D480Y	D	+	1	0	KCNB2	74011582	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	4.853000	0.62911	1.429000	0.47314	0.655000	0.94253	GAC	.		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73849028	G	T	73849028	3	4	31	1	0	0	0	0	1	0	0	0	8040	1174	41	3	1444	3	KCNB2	8	73849028	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	368912	73849028	72514994	1216	6768											
ZFHX4	79776	ucsc.edu;bcgsc.ca	37	chr8	77617610	77617610	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccctcagccactcatcGtctgagtctagcaagatgtc	8	14	5	2	rs376434723		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77617610G>T	ENST00000521891.2	+	2	1735	c.1287G>T	c.(1285-1287)tcG>tcT	p.S429S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.S429S|ZFHX4_ENST00000518282.1_Silent_p.S429S|ZFHX4_ENST00000455469.2_Silent_p.S429S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	429					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)			GCCACTCATCGTCTGAGTCTA	0.493										HNSCC(33;0.089)																											p.S429S		.											.	ZFHX4-98	0			c.G1287T						.						48	46	47					8																	77617610		1967	4167	6134	SO:0001819	synonymous_variant	79776	exon2			CTCATCGTCTGAG		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.1287G>T	8.37:g.77617610G>T		Somatic	142	2		WXS	Illumina GAIIx	Phase_I	163	36	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77617610	G	T	77617610	2	4	31	1	0	0	0	0	0	0	0	1	17683	1132	40	2		2	ZFHX4	8	77617610	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3768582	77617610	68746412	1217	6769											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	77618388	77618388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaggcttgcccggGgtgagagttacacgtgtggc	14	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77618388G>T	ENST00000521891.2	+	2	2513	c.2065G>T	c.(2065-2067)Ggt>Tgt	p.G689C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G689C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G689C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G689C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	689					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)			GCTTGCCCGGGGTGAGAGTTA	0.517										HNSCC(33;0.089)																											p.G689C		.											.	ZFHX4-98	0			c.G2065T						.						43	48	46					8																	77618388		2152	4279	6431	SO:0001583	missense	79776	exon2			GCCCGGGGTGAGA		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.2065G>T	8.37:g.77618388G>T	ENSP00000430497:p.Gly689Cys	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	119	73	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724566	0.48833	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56941	0.49;0.47;0.44;0.43	4.98	4.98	0.66077	.	0.000000	0.45126	U	0.000387	T	0.78685	0.4322	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83168	-0.0095	10	0.87932	D	0	.	18.7896	0.91968	0.0:0.0:1.0:0.0	.	689;689;689;689	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	689	ENSP00000430497:G689C;ENSP00000399605:G689C;ENSP00000050961:G689C;ENSP00000430848:G689C	ENSP00000050961:G689C	G	+	1	0	ZFHX4	77780943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.592000	0.98245	2.737000	0.93849	0.637000	0.83480	GGT	.		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77618388	G	T	77618388	3	4	31	1	0	0	0	0	1	0	0	0	17683	1232	43	3	2067	3	ZFHX4	8	77618388	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	778	77618388	68745634	1218	6770											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	77620165	77620165	+	Frame_Shift_Del	DEL	C	C	-													gtggaggttgaagtgtattgCcattggcaaccctgttcacc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77620165delC	ENST00000521891.2	+	3	3423	c.2975delC	c.(2974-2976)gccfs	p.A992fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A966fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A966fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A966fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	966					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)			AAGTGTATTGCCATTGGCAAC	0.448										HNSCC(33;0.089)																											p.A992fs		.											.	ZFHX4-98	0			c.2975delC						.						107	108	107					8																	77620165		2137	4252	6389	SO:0001589	frameshift_variant	79776	exon3			GTATTGCCATTGG		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.2975delC	8.37:g.77620165delC	ENSP00000430497:p.Ala992fs	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	290	69	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		-	77620165	C	-	77620165	7	5	31	1	0	1	0	1	0	0	0	0	17683	739	26	0	2981	0	ZFHX4	8	77620165	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	1777	77620165	68743857	1219	6771											
ZFHX4	79776	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	77763363	77763363	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgctgtaaccattgTagcttggctttcaaaactat	7	8	1	0	rs374254479		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77763363T>C	ENST00000521891.2	+	10	4654	c.4206T>C	c.(4204-4206)tgT>tgC	p.C1402C	ZFHX4_ENST00000050961.6_Silent_p.C1357C|ZFHX4_ENST00000518282.1_Silent_p.C1376C|ZFHX4_ENST00000455469.2_Silent_p.C1357C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1357					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)			GTAACCATTGTAGCTTGGCTT	0.448										HNSCC(33;0.089)																											p.C1402C		.											.	ZFHX4-98	0			c.T4206C						.	T		0,3792		0,0,1896	82	76	78		4206	-0.8	1	8		78	1,8241		0,1,4120	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6016	CC,CT,TT		0.0121,0.0,0.0083		1402/3617	77763363	1,12033	1896	4121	6017	SO:0001819	synonymous_variant	79776	exon10			CCATTGTAGCTTG		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.4206T>C	8.37:g.77763363T>C		Somatic	159	1		WXS	Illumina GAIIx	Phase_I	141	43	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77763363	T	C	77763363	2	2	31	1	0	0	0	0	0	0	0	1	17683	1644	57	4		4	ZFHX4	8	77763363	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	143198	77763363	68600659	1220	6772											
ZFHX4	79776	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	77763737	77763737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttttagaaaagggcCcaattttacgatggaaaaat	7	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77763737C>A	ENST00000521891.2	+	10	5028	c.4580C>A	c.(4579-4581)cCc>cAc	p.P1527H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1482H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1501H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1482H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1482					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)			AGAAAAGGGCCCAATTTTACG	0.423										HNSCC(33;0.089)																											p.P1527H		.											.	ZFHX4-98	0			c.C4580A						.						48	46	47					8																	77763737		1885	4119	6004	SO:0001583	missense	79776	exon10			AAGGGCCCAATTT		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.4580C>A	8.37:g.77763737C>A	ENSP00000430497:p.Pro1527His	Somatic	172	1		WXS	Illumina GAIIx	Phase_I	247	78	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820335	0.50633	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52295	0.67;0.72;0.7;0.69	5.05	5.05	0.67936	.	0.000000	0.44285	U	0.000480	T	0.62768	0.2455	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.98;0.98	T	0.64956	-0.6285	10	0.72032	D	0.01	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1482;1482;1527	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1527;1527;1482;1482;1501	ENSP00000430497:P1527H;ENSP00000399605:P1482H;ENSP00000050961:P1482H;ENSP00000430848:P1501H	ENSP00000050961:P1482H	P	+	2	0	ZFHX4	77926292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.629000	0.89072	0.555000	0.69702	CCC	.		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77763737	C	A	77763737	3	1	31	1	0	0	0	0	1	0	0	0	17683	623	22	3	4614	3	ZFHX4	8	77763737	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	374	77763737	68600285	1221	6773											
ZFHX4	79776	broad.mit.edu;bcgsc.ca	37	chr8	77764446	77764446	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaggctctgccacatttggGatgcctggcatgacaggaat	12	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77764446G>T	ENST00000521891.2	+	10	5737	c.5289G>T	c.(5287-5289)ggG>ggT	p.G1763G	ZFHX4_ENST00000050961.6_Silent_p.G1718G|ZFHX4_ENST00000518282.1_Silent_p.G1737G|ZFHX4_ENST00000455469.2_Silent_p.G1718G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1718	Gln-rich.				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)			CCACATTTGGGATGCCTGGCA	0.498										HNSCC(33;0.089)																											p.G1763G		.											.	ZFHX4-98	0			c.G5289T						.						40	38	38					8																	77764446		2076	4234	6310	SO:0001819	synonymous_variant	79776	exon10			ATTTGGGATGCCT		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.5289G>T	8.37:g.77764446G>T		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	65	33	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77764446	G	T	77764446	2	4	31	1	0	0	0	0	0	0	0	1	17683	1161	41	3		3	ZFHX4	8	77764446	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	709	77764446	68599576	1222	6774											
ZFHX4	79776	ucsc.edu;bcgsc.ca	37	chr8	77766416	77766416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagagtgacccctctcCcccttctcaaggcaccaaac	6	17	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77766416C>A	ENST00000521891.2	+	10	7707	c.7259C>A	c.(7258-7260)cCc>cAc	p.P2420H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2375H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2394H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2375H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2375	Pro-rich.				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)			GACCCCTCTCCCCCTTCTCAA	0.572										HNSCC(33;0.089)																											p.P2420H		.											.	ZFHX4-98	0			c.C7259A						.						40	66	57					8																	77766416		2033	4166	6199	SO:0001583	missense	79776	exon10			CCTCTCCCCCTTC		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.7259C>A	8.37:g.77766416C>A	ENSP00000430497:p.Pro2420His	Somatic	172	2		WXS	Illumina GAIIx	Phase_I	227	104	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442377	0.25987	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.86;0.82;0.82	4.86	3.99	0.46301	.	0.530561	0.15642	U	0.251801	T	0.48077	0.1480	L	0.40543	1.245	0.26301	N	0.977973	B;P;P	0.41569	0.214;0.755;0.545	B;P;B	0.46479	0.241;0.518;0.421	T	0.42241	-0.9463	10	0.59425	D	0.04	.	13.545	0.61697	0.0:0.9243:0.0:0.0757	.	2375;2375;2420	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2420;2404;2375;2375;2394	ENSP00000430497:P2420H;ENSP00000399605:P2375H;ENSP00000050961:P2375H;ENSP00000430848:P2394H	ENSP00000050961:P2375H	P	+	2	0	ZFHX4	77928971	0.228000	0.23718	0.400000	0.26346	0.671000	0.39405	2.020000	0.41010	1.269000	0.44280	0.650000	0.86243	CCC	.		0.572	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77766416	C	A	77766416	3	1	31	1	0	0	0	0	1	0	0	0	17683	623	22	3	7293	3	ZFHX4	8	77766416	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1970	77766416	68597606	1223	6775											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	77776722	77776722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctagaagacttagataattCtttggaagtgaaggctaagc	11	5	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77776722C>G	ENST00000521891.2	+	11	11220	c.10772C>G	c.(10771-10773)tCt>tGt	p.S3591C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3542C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3565C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3546C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3542					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)			TTAGATAATTCTTTGGAAGTG	0.463										HNSCC(33;0.089)																											p.S3591C		.											.	ZFHX4-98	0			c.C10772G						.						46	45	46					8																	77776722		1960	4170	6130	SO:0001583	missense	79776	exon11			ATAATTCTTTGGA		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.10772C>G	8.37:g.77776722C>G	ENSP00000430497:p.Ser3591Cys	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	262	38	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048074	0.36085	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.69;0.66;0.66	4.6	4.6	0.57074	.	0.164157	0.28549	U	0.014942	T	0.56761	0.2007	L	0.36672	1.1	0.41745	D	0.989638	D	0.64830	0.994	P	0.59643	0.861	T	0.61633	-0.7023	10	0.72032	D	0.01	.	17.9764	0.89129	0.0:1.0:0.0:0.0	.	3546	Q86UP3-4	.	C	3591;3575;3546;3542;3565	ENSP00000430497:S3591C;ENSP00000399605:S3546C;ENSP00000050961:S3542C;ENSP00000430848:S3565C	ENSP00000050961:S3542C	S	+	2	0	ZFHX4	77939277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.493000	0.66899	2.551000	0.86045	0.650000	0.86243	TCT	.		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77776722	C	G	77776722	3	3	31	1	0	0	0	0	1	0	0	0	17683	913	32	3	10810	3	ZFHX4	8	77776722	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	10306	77776722	68587300	1224	6776											
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	81412557	81412557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaatttagaagattgctcaGtaatgcagccacctgttgcc	9	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:81412557G>T	ENST00000430430.1	+	3	2580	c.1801G>T	c.(1801-1803)Gta>Tta	p.V601L	ZBTB10_ENST00000379091.4_Missense_Mutation_p.V309L|ZBTB10_ENST00000426744.2_Missense_Mutation_p.V601L|ZBTB10_ENST00000455036.3_Missense_Mutation_p.V601L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGATTGCTCAGTAATGCAGCC	0.338																																					p.V601L		.											.	ZBTB10-522	0			c.G1801T						.						9	9	9					8																	81412557		1819	3997	5816	SO:0001583	missense	65986	exon2			TGCTCAGTAATGC	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1801G>T	8.37:g.81412557G>T	ENSP00000387462:p.Val601Leu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	143	72	NM_023929	0	0	0	0	0	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	7.647	0.682010	0.14907	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.5	4.62	0.57501	.	0.368522	0.29260	N	0.012662	T	0.22126	0.0533	N	0.24115	0.695	0.31006	N	0.719728	B;B;B;P	0.35527	0.302;0.302;0.114;0.507	B;B;B;B	0.27170	0.045;0.05;0.015;0.077	T	0.16335	-1.0406	10	0.13470	T	0.59	.	8.6363	0.33950	0.2279:0.0:0.7721:0.0	.	457;601;601;309	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	L	309;601;601;601;429	ENSP00000368384:V309L;ENSP00000387462:V601L;ENSP00000412036:V601L;ENSP00000416134:V601L	ENSP00000368384:V309L	V	+	1	0	ZBTB10	81575112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.546000	0.36179	1.325000	0.45301	0.650000	0.86243	GTA	.		0.338	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		T	81412557	G	T	81412557	3	4	31	1	0	0	0	0	1	0	0	0	17571	1029	36	3	1807	3	ZBTB10	8	81412557	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3635835	81412557	64951465	1225	6777											
PMP2	5375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	82359617	82359617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcccaggaatttgttgCtcatcgtgatgggtgagagc	15	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:82359617C>T	ENST00000256103.2	-	1	141	c.5G>A	c.(4-6)aGc>aAc	p.S2N	PMP2_ENST00000519260.1_Missense_Mutation_p.S2N|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	2					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GAATTTGTTGCTCATCGTGAT	0.423																																					p.S2N		.											.	PMP2-90	0			c.G5A						.						105	101	102					8																	82359617		2203	4300	6503	SO:0001583	missense	5375	exon1			TTGTTGCTCATCG	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.5G>A	8.37:g.82359617C>T	ENSP00000256103:p.Ser2Asn	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	122	37	NM_002677	0	0	0	0	0	Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710718	0.30322	.	.	ENSG00000147588	ENST00000256103;ENST00000519260	T;T	0.42513	2.74;0.97	5.98	3.95	0.45737	.	0.275476	0.40554	N	0.001077	T	0.28134	0.0694	N	0.24115	0.695	0.21147	N	0.999772	B	0.15473	0.013	B	0.15870	0.014	T	0.23904	-1.0175	10	0.87932	D	0	.	8.4025	0.32594	0.0:0.757:0.146:0.097	.	2	P02689	MYP2_HUMAN	N	2	ENSP00000256103:S2N;ENSP00000429917:S2N	ENSP00000256103:S2N	S	-	2	0	PMP2	82522172	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.390000	0.44416	0.662000	0.31006	0.650000	0.86243	AGC	.		0.423	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		T	82359617	C	T	82359617	3	4	31	1	0	0	0	0	1	0	0	0	12177	797	28	3	409	3	PMP2	8	82359617	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	947060	82359617	64004405	1226	6778											
CA13	377677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	86162997	86162997	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactggaaggaatttttcccTattgctgatggtgatcagca	10	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:86162997T>A	ENST00000321764.3	+	2	368	c.66T>A	c.(64-66)ccT>ccA	p.P22P	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	22					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AATTTTTCCCTATTGCTGATG	0.348																																					p.P22P		.											.	CA13-90	0			c.T66A						.						82	85	84					8																	86162997		2203	4300	6503	SO:0001819	synonymous_variant	377677	exon2			TTTCCCTATTGCT	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.66T>A	8.37:g.86162997T>A		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	234	104	NM_198584	0	0	0	0	0		Silent	SNP	ENST00000321764.3	37	CCDS6236.1																																																																																			.		0.348	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		A	86162997	T	A	86162997	2	1	31	1	0	0	0	0	0	0	0	1	2521	1509	53	5		5	CA13	8	86162997	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3803380	86162997	60201025	1227	6779											
PSKH2	85481	bcgsc.ca	37	chr8	87076709	87076709	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaacgatggctaacccgccGcaggacgctcagctcagaca	11	14	2	1	rs375694521		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:87076709G>T	ENST00000276616.2	-	2	411	c.337C>A	c.(337-339)Cgg>Agg	p.R113R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R113W(1)		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)			CTAACCCGCCGCAGGACGCTC	0.507																																					p.R113R		.											.	PSKH2-385	1	Substitution - Missense(1)	lung(1)	c.C337A						.						99	86	90					8																	87076709		2203	4300	6503	SO:0001819	synonymous_variant	85481	exon2			CCCGCCGCAGGAC	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.337C>A	8.37:g.87076709G>T		Somatic	103	3		WXS	Illumina GAIIx	Phase_I	152	63	NM_033126	0	0	0	0	0	A0AV22	Silent	SNP	ENST00000276616.2	37	CCDS6240.1																																																																																			.		0.507	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		T	87076709	G	T	87076709	2	4	31	1	0	0	0	0	0	0	0	1	12707	1086	38	2		2	PSKH2	8	87076709	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	913712	87076709	59287313	1228	6780											
ATP6V0D2	245972	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	87162446	87162446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaccttcggcaaactctatCctgaggggttgcggctgttg	12	11	1	1	rs187338795	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:87162446C>A	ENST00000285393.3	+	6	887	c.745C>A	c.(745-747)Cct>Act	p.P249T	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	249					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						CAAACTCTATCCTGAGGGGTT	0.493																																					p.P249T		.											.	ATP6V0D2-90	0			c.C745A						.						108	99	102					8																	87162446		2203	4300	6503	SO:0001583	missense	245972	exon6			CTCTATCCTGAGG	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.745C>A	8.37:g.87162446C>A	ENSP00000285393:p.Pro249Thr	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	202	69	NM_152565	0	0	0	0	0		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710755	0.68730	.	.	ENSG00000147614	ENST00000285393	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77970	-0.2387	10	0.87932	D	0	-19.6563	19.8676	0.96824	0.0:1.0:0.0:0.0	.	249	Q8N8Y2	VA0D2_HUMAN	T	249	ENSP00000285393:P249T	ENSP00000285393:P249T	P	+	1	0	ATP6V0D2	87231562	1.000000	0.71417	0.552000	0.28243	0.094000	0.18550	7.743000	0.85020	2.941000	0.99782	0.655000	0.94253	CCT	C|0.999;T|0.001		0.493	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		A	87162446	C	A	87162446	3	1	31	1	0	0	0	0	1	0	0	0	1175	855	30	3	767	3	ATP6V0D2	8	87162446	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	85737	87162446	59201576	1229	6781											
DCAF4L2	138009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	88885067	88885067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgagcagccctggtGctcctcggaagcccccgagg	13	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:88885067G>T	ENST00000319675.3	-	1	1229	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	378										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						CAGCCCTGGTGCTCCTCGGAA	0.567																																					p.A378E		.											.	DCAF4L2-91	0			c.C1133A						.						51	57	55					8																	88885067		2203	4300	6503	SO:0001583	missense	138009	exon1			CCTGGTGCTCCTC	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.1133C>A	8.37:g.88885067G>T	ENSP00000316496:p.Ala378Glu	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	91	32	NM_152418	0	0	0	0	0		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066107	0.36470	.	.	ENSG00000176566	ENST00000319675	T	0.22945	1.93	1.37	-1.13	0.09775	.	0.491977	0.23060	N	0.052392	T	0.17534	0.0421	L	0.44542	1.39	0.22827	N	0.998683	B	0.33512	0.415	B	0.35114	0.196	T	0.14008	-1.0488	10	0.33940	T	0.23	.	5.7752	0.18275	0.3255:0.0:0.6745:0.0	.	378	Q8NA75	DC4L2_HUMAN	E	378	ENSP00000316496:A378E	ENSP00000316496:A378E	A	-	2	0	DCAF4L2	88954183	1.000000	0.71417	0.043000	0.18650	0.780000	0.44128	3.130000	0.50508	-0.428000	0.07339	0.467000	0.42956	GCA	.		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		T	88885067	G	T	88885067	3	4	31	1	0	0	0	0	1	0	0	0	4281	1319	46	3	58	3	DCAF4L2	8	88885067	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1722621	88885067	57478955	1230	6782											
TMEM55A	55529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	92008967	92008967	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggaagtgcactacccactGaggagctgcaaattcatgaa	11	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:92008967G>C	ENST00000285419.3	-	6	859	c.545C>G	c.(544-546)tCa>tGa	p.S182*		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	182						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTACCCACTGAGGAGCTGCA	0.343																																					p.S182X		.											.	TMEM55A-90	0			c.C545G						.						53	47	49					8																	92008967		2203	4299	6502	SO:0001587	stop_gained	55529	exon6			CCCACTGAGGAGC	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.545C>G	8.37:g.92008967G>C	ENSP00000285419:p.Ser182*	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	216	97	NM_018710	0	0	0	0	0	B2R9H4|Q68CU2	Nonsense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	38	7.264483	0.98171	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.214	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	182;188	.	ENSP00000285419:S182X	S	-	2	0	TMEM55A	92078143	1.000000	0.71417	0.905000	0.35620	0.997000	0.91878	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	TCA	.		0.343	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		C	92008967	G	C	92008967	4	2	31	1	0	0	0	0	0	1	0	0	16228	1294	45	3	236	3	TMEM55A	8	92008967	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3123900	92008967	54355055	1231	6783											
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	92972688	92972688	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaatgagccacagtatcGggctgtgttacagccactgc	11	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:92972688G>T	ENST00000523629.1	-	12	2051	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	RUNX1T1_ENST00000518844.1_Silent_p.R506R|RUNX1T1_ENST00000360348.2_Silent_p.R496R|RUNX1T1_ENST00000436581.2_Silent_p.R544R|RUNX1T1_ENST00000520724.1_Silent_p.R496R|RUNX1T1_ENST00000396218.1_Silent_p.R506R|RUNX1T1_ENST00000422361.2_Silent_p.R496R|RUNX1T1_ENST00000265814.3_Silent_p.R533R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517																																					p.R592R		.											.	RUNX1T1-1196	3	Substitution - coding silent(3)	lung(3)	c.C1774A						.						74	69	70					8																	92972688		2203	4300	6503	SO:0001819	synonymous_variant	862	exon12			AGTATCGGGCTGT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1597C>A	8.37:g.92972688G>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	86	26	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		T	92972688	G	T	92972688	2	4	31	1	0	0	0	0	0	0	0	1	13792	1124	39	2		2	RUNX1T1	8	92972688	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	963721	92972688	53391334	1232	6784											
RAD54B	25788	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	95403988	95403988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataaagctcaatctgtagtGctcctggtcggcaaaagaca	10	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:95403988G>T	ENST00000336148.5	-	10	1782	c.1658C>A	c.(1657-1659)gCa>gAa	p.A553E		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	553					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)			AATCTGTAGTGCTCCTGGTCG	0.388								Direct reversal of damage;Homologous recombination																													p.A553E		.											.	RAD54B-539	0			c.C1658A						.						123	129	127					8																	95403988		2203	4300	6503	SO:0001583	missense	25788	exon10			TGTAGTGCTCCTG	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.1658C>A	8.37:g.95403988G>T	ENSP00000336606:p.Ala553Glu	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	137	31	NM_012415	0	0	0	0	0	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	4.049	0.006812	0.07866	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.74526	-0.85	4.96	3.09	0.35607	SNF2-related (1);	0.543832	0.20540	N	0.090334	T	0.47507	0.1449	N	0.11284	0.12	0.20403	N	0.999901	B	0.14805	0.011	B	0.14578	0.011	T	0.28522	-1.0041	10	0.07644	T	0.81	8.3183	6.099	0.20037	0.1351:0.0:0.5859:0.2789	.	553	Q9Y620	RA54B_HUMAN	E	553;225	ENSP00000336606:A553E	ENSP00000336606:A553E	A	-	2	0	RAD54B	95473164	0.046000	0.20272	0.482000	0.27366	0.750000	0.42670	2.124000	0.42006	1.177000	0.42855	0.650000	0.86243	GCA	.		0.388	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		T	95403988	G	T	95403988	3	4	31	1	0	0	0	0	1	0	0	0	13037	1319	46	3	1098	3	RAD54B	8	95403988	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2431300	95403988	50960034	1233	6785											
FBXO43	286151	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	101154328	101154328	+	Frame_Shift_Del	DEL	C	C	-													gttgacaattggaggagagtCcgccccatttcctgcttcag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:101154328delC	ENST00000428847.2	-	2	470	c.154delG	c.(154-156)gacfs	p.D52fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	52					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGAGGAGAGTCCGCCCCATTT	0.423																																					p.D52fs		.											.	FBXO43-226	0			c.154delG						.						75	79	77					8																	101154328		1988	4169	6157	SO:0001589	frameshift_variant	286151	exon2			GAGAGTCCGCCCC	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.154delG	8.37:g.101154328delC	ENSP00000403293:p.Asp52fs	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	104	35	NM_001029860	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000428847.2	37	CCDS47904.1																																																																																			.		0.423	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		-	101154328	C	-	101154328	7	5	31	1	0	1	0	1	0	0	0	0	5774	855	30	0	1988	0	FBXO43	8	101154328	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	5750340	101154328	45209694	1234	6786											
PABPC1	26986	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	101725319	101725319	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacagaccacttactttcTgtgcatcttcatgcctttca	4	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:101725319T>G	ENST00000318607.5	-	5	1862	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	PABPC1_ENST00000522387.1_Missense_Mutation_p.Q213P|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.Q200P	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	245	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTTACTTTCTGTGCATCTTC	0.383																																					p.Q245P		.											.	PABPC1-68	0			c.A734C						.						75	67	70					8																	101725319		2203	4300	6503	SO:0001583	missense	26986	exon5			ACTTTCTGTGCAT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.734A>C	8.37:g.101725319T>G	ENSP00000313007:p.Gln245Pro	Somatic	120	2		WXS	Illumina GAIIx	Phase_I	107	50	NM_002568	0	0	0	0	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055363	0.75960	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	D;D;T	0.85773	-2.03;-2.03;2.3	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.110508	0.38837	U	0.001553	D	0.92074	0.7488	M	0.88241	2.94	0.80722	D	1	P;D;D	0.58268	0.915;0.982;0.982	P;P;P	0.59012	0.811;0.85;0.85	D	0.93161	0.6558	10	0.54805	T	0.06	.	14.9391	0.70980	0.0:0.0:0.0:1.0	.	213;245;245	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	P	245;245;200;213	ENSP00000313007:Q245P;ENSP00000429594:Q200P;ENSP00000429395:Q213P	ENSP00000313007:Q245P	Q	-	2	0	PABPC1	101794495	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.875000	0.87205	1.992000	0.58205	0.383000	0.25322	CAG	.		0.383	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101725319	T	G	101725319	3	3	31	1	0	0	0	0	1	0	0	0	11402	1580	55	5	1216	5	PABPC1	8	101725319	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	570991	101725319	44638703	1235	6787											
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	104948841	104948841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacccaaatggaaccaaaCattcatttattctccagtcc	5	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:104948841C>T	ENST00000436393.2	+	11	2013	c.1772C>T	c.(1771-1773)aCa>aTa	p.T591I	RIMS2_ENST00000406091.3_Missense_Mutation_p.T813I|RIMS2_ENST00000262231.10_Missense_Mutation_p.T652I|RIMS2_ENST00000507740.1_Missense_Mutation_p.T605I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	875					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)			TGGAACCAAACATTCATTTAT	0.358										HNSCC(12;0.0054)																											p.T813I		.											.	RIMS2-279	0			c.C2438T						.						110	104	106					8																	104948841		1844	4079	5923	SO:0001583	missense	9699	exon13			ACCAAACATTCAT	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.1772C>T	8.37:g.104948841C>T	ENSP00000390665:p.Thr591Ile	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	106	26	NM_001100117	0	0	0	0	0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.584192	0.86748	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.84647	0.5518	M	0.77616	2.38	0.80722	D	1	D;P;D;P;P;D	0.64830	0.979;0.843;0.994;0.89;0.953;0.993	D;P;D;P;D;D	0.87578	0.958;0.771;0.998;0.808;0.926;0.983	D	0.87120	0.2190	9	0.87932	D	0	.	17.9808	0.89140	0.0:1.0:0.0:0.0	.	875;875;591;652;605;813	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	I	813;828;813;875;605;652;605;605;591	ENSP00000427018:T813I;ENSP00000384892:T813I;ENSP00000425205:T605I;ENSP00000262231:T652I;ENSP00000423559:T605I;ENSP00000386228:T605I;ENSP00000390665:T591I	ENSP00000262231:T652I	T	+	2	0	RIMS2	105018017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.729000	0.84864	2.309000	0.77851	0.467000	0.42956	ACA	.		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	104948841	C	T	104948841	3	4	31	1	0	0	0	0	1	0	0	0	13413	478	17	3	2614	3	RIMS2	8	104948841	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3223522	104948841	41415181	1236	6788											
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	105263996	105263996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctctgacaagaagagCttcccaatcatctctggaaa	8	13	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105263996C>A	ENST00000436393.2	+	28	4293	c.4052C>A	c.(4051-4053)gCt>gAt	p.A1351D	RIMS2_ENST00000406091.3_Missense_Mutation_p.A1333D|RIMS2_ENST00000262231.10_Missense_Mutation_p.A1172D|RIMS2_ENST00000507740.1_Missense_Mutation_p.A1147D|RIMS2_ENST00000339750.2_Missense_Mutation_p.A269D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1395	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAAGAAGAGCTTCCCAATCA	0.423										HNSCC(12;0.0054)																											p.A1333D		.											.	RIMS2-279	0			c.C3998A						.						134	134	134					8																	105263996		1863	4087	5950	SO:0001583	missense	9699	exon24			GAAGAGCTTCCCA	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.4052C>A	8.37:g.105263996C>A	ENSP00000390665:p.Ala1351Asp	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	153	49	NM_001100117	0	0	0	0	0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035720	0.75617	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	T;T;T;T;T	0.18657	2.64;2.33;2.33;2.62;2.2	5.64	5.64	0.86602	.	.	.	.	.	T	0.42200	0.1192	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.991;0.997;0.997;0.998	T	0.17349	-1.0372	9	0.06625	T	0.88	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1351;1172;1147;1333	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	D	1370;1333;1395;1172;1147;1351;269	ENSP00000384892:A1333D;ENSP00000262231:A1172D;ENSP00000423559:A1147D;ENSP00000390665:A1351D;ENSP00000342051:A269D	ENSP00000262231:A1172D	A	+	2	0	RIMS2	105333172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	GCT	.		0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	105263996	C	A	105263996	3	1	31	1	0	0	0	0	1	0	0	0	13413	797	28	3	4288	3	RIMS2	8	105263996	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	315155	105263996	41100026	1237	6789											
TM7SF4	81501	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	105361150	105361150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttaaaggtctcctagatGgtatgacttgcaacctaagg	9	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105361150G>T	ENST00000297581.2	+	2	419	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G124C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	124					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCTCCTAGATGGTATGACTTG	0.423																																					p.G124C		.											.	.	0			c.G370T						.						75	80	78					8																	105361150		2203	4300	6503	SO:0001583	missense	81501	exon2			CTAGATGGTATGA	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.370G>T	8.37:g.105361150G>T	ENSP00000297581:p.Gly124Cys	Somatic	152	2		WXS	Illumina GAIIx	Phase_I	152	65	NM_001257317	0	0	0	0	0	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163661	0.57476	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32515	1.45	5.84	1.89	0.25635	.	0.122857	0.85682	D	0.000000	T	0.17746	0.0426	L	0.34521	1.04	0.34541	D	0.710326	B	0.06786	0.001	B	0.09377	0.004	T	0.13442	-1.0509	9	.	.	.	-7.9417	4.6726	0.12696	0.6612:0.0:0.1953:0.1436	.	124	Q9H295	TM7S4_HUMAN	C	124	ENSP00000297581:G124C	.	G	+	1	0	TM7SF4	105430326	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	2.624000	0.46444	0.446000	0.26666	-0.290000	0.09829	GGT	.		0.423	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105361150	G	T	105361150	3	4	31	1	0	0	0	0	1	0	0	0	16023	1348	47	3	372	3	TM7SF4	8	105361150	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	97154	105361150	41002872	1238	6790											
DPYS	1807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	105405152	105405152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtcacaaggggcacccCgtggcaaaccatgccctcga	10	14	1	0	rs267606773		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105405152C>T	ENST00000351513.2	-	8	1435	c.1303G>A	c.(1303-1305)Ggg>Agg	p.G435R	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	435			G -> R (in DHPD). {ECO:0000269|PubMed:9718352}.		beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGGCACCCCGTGGCAAACC	0.433																																					p.G435R		.											.	DPYS-229	0			c.G1303A	GRCh37	CM980568	DPYS	M		.						106	112	110					8																	105405152		2203	4300	6503	SO:0001583	missense	1807	exon8			GCACCCCGTGGCA	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1303G>A	8.37:g.105405152C>T	ENSP00000276651:p.Gly435Arg	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	107	11	NM_001385	0	0	0	0	0		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194575	0.94960	.	.	ENSG00000147647	ENST00000351513	D	0.89270	-2.49	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96030	0.9016	10	0.87932	D	0	-27.8148	20.547	0.99278	0.0:1.0:0.0:0.0	.	435	Q14117	DPYS_HUMAN	R	435	ENSP00000276651:G435R	ENSP00000276651:G435R	G	-	1	0	DPYS	105474328	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.487000	0.81328	2.850000	0.98022	0.650000	0.86243	GGG	.		0.433	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		T	105405152	C	T	105405152	3	4	31	1	0	0	0	0	1	0	0	0	4760	652	23	1	264	1	DPYS	8	105405152	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	44002	105405152	40958870	1239	6791											
LRP12	29967	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	105511738	105511738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatccttgaatatcaaaAtcctgaaaactgaaaaaaaa	5	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105511738A>C	ENST00000276654.5	-	4	390	c.282T>G	c.(280-282)gaT>gaG	p.D94E	LRP12_ENST00000424843.2_Missense_Mutation_p.D75E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	94	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			GAATATCAAAATCCTGAAAAC	0.308																																					p.D94E		.											.	LRP12-90	0			c.T282G						.						68	69	69					8																	105511738		2203	4300	6503	SO:0001583	missense	29967	exon4			ATCAAAATCCTGA	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.282T>G	8.37:g.105511738A>C	ENSP00000276654:p.Asp94Glu	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	26	10	NM_013437	0	0	0	0	0	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661676	0.47572	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.17691	2.26;2.26	5.81	3.5	0.40072	CUB (5);	0.043092	0.85682	D	0.000000	T	0.11067	0.0270	L	0.28740	0.885	0.80722	D	1	B;B	0.20887	0.04;0.049	B;B	0.23150	0.026;0.044	T	0.12218	-1.0556	10	0.49607	T	0.09	-31.3191	4.1131	0.10068	0.682:0.0:0.1683:0.1497	.	75;94	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	75;94;94	ENSP00000399148:D75E;ENSP00000276654:D94E	ENSP00000276654:D94E	D	-	3	2	LRP12	105580914	0.962000	0.33011	1.000000	0.80357	0.964000	0.63967	0.177000	0.16801	1.039000	0.40074	0.455000	0.32223	GAT	.		0.308	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		C	105511738	A	C	105511738	3	2	31	1	0	0	0	0	1	0	0	0	8989	98	4	5	2313	5	LRP12	8	105511738	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	106586	105511738	40852284	1240	6792											
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	106814687	106814687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatgtgatatctttccaGgaattgtctctaaacacttg	7	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:106814687G>T	ENST00000407775.2	+	8	2627	c.2377G>T	c.(2377-2379)Gga>Tga	p.G793*	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.G661*|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.G524*|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.G661*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	793					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TATCTTTCCAGGAATTGTCTC	0.433																																					p.G793X		.											.	ZFPM2-139	0			c.G2377T						.						62	60	61					8																	106814687		1896	4133	6029	SO:0001587	stop_gained	23414	exon8			TTTCCAGGAATTG	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2377G>T	8.37:g.106814687G>T	ENSP00000384179:p.Gly793*	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	276	76	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	39	7.647998	0.98409	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	.	.	.	X	793;661;661;524	.	ENSP00000367733:G524X	G	+	1	0	ZFPM2	106883863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.621000	0.83083	2.708000	0.92522	0.561000	0.74099	GGA	.		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106814687	G	T	106814687	4	4	31	1	0	0	0	0	0	1	0	0	17706	1001	35	3	2407	3	ZFPM2	8	106814687	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1302949	106814687	39549335	1241	6793											
PKHD1L1	93035	bcgsc.ca	37	chr8	110457146	110457146	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgtgaccataaaaggctctgGatttgccgtttcttctgcag	10	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110457146G>C	ENST00000378402.5	+	38	5152	c.5048G>C	c.(5047-5049)gGa>gCa	p.G1683A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1683	IPT/TIG 9.				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)			AAAGGCTCTGGATTTGCCGTT	0.418										HNSCC(38;0.096)																											p.G1683A		.											.	PKHD1L1-145	0			c.G5048C						.						136	133	134					8																	110457146		1877	4115	5992	SO:0001583	missense	93035	exon38			GCTCTGGATTTGC	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.5048G>C	8.37:g.110457146G>C	ENSP00000367655:p.Gly1683Ala	Somatic	315	4		WXS	Illumina GAIIx	Phase_I	342	147	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778557	0.90195	.	.	ENSG00000205038	ENST00000378402	T	0.79554	-1.28	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	L	0.52573	1.65	0.50632	D	0.999887	D	0.89917	1.0	D	0.85130	0.997	D	0.86127	0.1572	10	0.48119	T	0.1	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1683	Q86WI1	PKHL1_HUMAN	A	1683	ENSP00000367655:G1683A	ENSP00000367655:G1683A	G	+	2	0	PKHD1L1	110526322	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.815000	0.86186	2.941000	0.99782	0.655000	0.94253	GGA	.		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110457146	G	C	110457146	3	2	31	1	0	0	0	0	1	0	0	0	12011	1174	41	3	5198	3	PKHD1L1	8	110457146	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3642459	110457146	35906876	1242	6794											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	110464351	110464351	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttttccctcttttttacAgtgaaaatatggaggatgtt	8	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110464351A>T	ENST00000378402.5	+	42	6454		c.e42-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTTTTTACAGTGAAAATAT	0.338										HNSCC(38;0.096)																											.		.											.	PKHD1L1-145	0			c.6351-2A>T						.						77	71	73					8																	110464351		1886	4114	6000	SO:0001630	splice_region_variant	93035	exon42			TTTTACAGTGAAA	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.6351-1A>T	8.37:g.110464351A>T		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	126	64	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351908	0.41700	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9409	0.64054	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110533527	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	5.236000	0.65354	2.238000	0.73509	0.477000	0.44152	.	.		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	T	110464351	A	T	110464351	5	4	31	1	0	0	0	0	0	0	1	0	12011	202	7	5	6515	5	PKHD1L1	8	110464351	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	7205	110464351	35899671	1243	6795											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110502235	110502235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcaagaaggcttcaGggatagcacagatccaagat	12	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110502235G>T	ENST00000378402.5	+	60	10039	c.9935G>T	c.(9934-9936)aGg>aTg	p.R3312M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3312					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)			GAAGGCTTCAGGGATAGCACA	0.308										HNSCC(38;0.096)																											p.R3312M		.											.	PKHD1L1-145	0			c.G9935T						.						94	92	93					8																	110502235		1827	4083	5910	SO:0001583	missense	93035	exon60			GCTTCAGGGATAG	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.9935G>T	8.37:g.110502235G>T	ENSP00000367655:p.Arg3312Met	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	260	71	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704995	0.68615	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.84516	-1.86;-1.86	5.04	5.04	0.67666	Pectin lyase fold/virulence factor (1);	0.153773	0.50627	D	0.000110	T	0.81312	0.4796	L	0.47716	1.5	0.27367	N	0.955805	P	0.36483	0.555	B	0.38296	0.27	T	0.77360	-0.2617	10	0.52906	T	0.07	.	12.0441	0.53469	0.0:0.1742:0.8257:0.0	.	3312	Q86WI1	PKHL1_HUMAN	M	3312;240	ENSP00000367655:R3312M;ENSP00000437376:R240M	ENSP00000367655:R3312M	R	+	2	0	PKHD1L1	110571411	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.493000	0.45320	2.503000	0.84419	0.467000	0.42956	AGG	.		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110502235	G	T	110502235	3	4	31	1	0	0	0	0	1	0	0	0	12011	1000	35	3	10173	3	PKHD1L1	8	110502235	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	37884	110502235	35861787	1244	6796											
CSMD3	114788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	113237100	113237100	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgggattttcaaaagctGcttggccattgttattttca	8	7	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:113237100G>C	ENST00000297405.5	-	71	11268	c.11024C>G	c.(11023-11025)gCa>gGa	p.A3675G	CSMD3_ENST00000343508.3_Missense_Mutation_p.A3635G|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3506G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3605G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3675						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						TTCAAAAGCTGCTTGGCCATT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.A3675G		.											.	CSMD3-1132	0			c.C11024G						.						378	337	351					8																	113237100		2203	4300	6503	SO:0001583	missense	114788	exon71			AAAGCTGCTTGGC	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.11024C>G	8.37:g.113237100G>C	ENSP00000297405:p.Ala3675Gly	Somatic	258	1		WXS	Illumina GAIIx	Phase_I	264	82	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508636	0.85282	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.39229	1.43;1.42;1.51;1.09;1.48	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.67069	0.2854	M	0.73962	2.25	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.998;0.925	D;D;P	0.81914	0.995;0.989;0.712	T	0.66139	-0.5998	10	0.51188	T	0.08	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	3506;3675;3635	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	3635;3675;2945;3506;3605	ENSP00000345799:A3635G;ENSP00000297405:A3675G;ENSP00000341558:A2945G;ENSP00000412263:A3506G;ENSP00000343124:A3605G	ENSP00000297405:A3675G	A	-	2	0	CSMD3	113306276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.715000	0.98748	2.736000	0.93811	0.591000	0.81541	GCA	.		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113237100	G	C	113237100	3	2	31	1	0	0	0	0	1	0	0	0	3955	1319	46	3	103	3	CSMD3	8	113237100	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2734865	113237100	33126922	1245	6797											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	113516042	113516042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtattctagatgaaatccaGtgtaactaacagatccatca	6	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:113516042G>T	ENST00000297405.5	-	30	5304	c.5060C>A	c.(5059-5061)aCt>aAt	p.T1687N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1647N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1583N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1687N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1687	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGAAATCCAGTGTAACTAAC	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T1687N		.											.	CSMD3-1132	0			c.C5060A						.						138	125	129					8																	113516042		2203	4300	6503	SO:0001583	missense	114788	exon30			AATCCAGTGTAAC	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.5060C>A	8.37:g.113516042G>T	ENSP00000297405:p.Thr1687Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	106	48	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124827	0.56613	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.08	5.08	0.68730	CUB (5);	0.068340	0.56097	D	0.000021	T	0.26955	0.0660	N	0.17901	0.54	0.34254	D	0.679119	D;D;B	0.76494	0.996;0.999;0.017	D;D;B	0.75020	0.931;0.985;0.028	T	0.18085	-1.0348	10	0.21014	T	0.42	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	1583;1687;1647	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1647;1687;1027;1583;1687	ENSP00000345799:T1647N;ENSP00000297405:T1687N;ENSP00000341558:T1027N;ENSP00000412263:T1583N;ENSP00000343124:T1687N	ENSP00000297405:T1687N	T	-	2	0	CSMD3	113585218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.217000	0.72218	2.629000	0.89072	0.650000	0.86243	ACT	.		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113516042	G	T	113516042	3	4	31	1	0	0	0	0	1	0	0	0	3955	1029	36	3	6231	3	CSMD3	8	113516042	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	278942	113516042	32847980	1246	6798											
CSMD3	114788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	114111074	114111074	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatgagtgaaattgtgtcCccaggctctgctacaatggt	10	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114111074C>A	ENST00000297405.5	-	5	1072	c.828G>T	c.(826-828)ggG>ggT	p.G276G	CSMD3_ENST00000343508.3_Silent_p.G236G|CSMD3_ENST00000455883.2_Silent_p.G276G|CSMD3_ENST00000352409.3_Silent_p.G276G|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTGTGTCCCCAGGCTCTG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G276G		.											.	CSMD3-1132	0			c.G828T						.						114	103	107					8																	114111074		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon5			TGTGTCCCCAGGC	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.828G>T	8.37:g.114111074C>A		Somatic	139	1		WXS	Illumina GAIIx	Phase_I	188	59	NM_052900	0	0	0	0	0	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		A	114111074	C	A	114111074	2	1	31	1	0	0	0	0	0	0	0	1	3955	610	22	3		3	CSMD3	8	114111074	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	595032	114111074	32252948	1247	6799											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	114326847	114326847	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcatataatgataaGtagtcgtattcttcttctag	6	7	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114326847G>T	ENST00000297405.5	-	2	598	c.354C>A	c.(352-354)taC>taA	p.Y118*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y78*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y118*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y118*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	118	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATGATAAGTAGTCGTATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.Y118X		.											.	CSMD3-1132	0			c.C354A						.						139	132	135					8																	114326847		2203	4298	6501	SO:0001587	stop_gained	114788	exon2			TGATAAGTAGTCG	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.354C>A	8.37:g.114326847G>T	ENSP00000297405:p.Tyr118*	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	151	61	NM_052900	0	0	0	0	0	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476674	0.96291	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.72	3.86	0.44501	.	0.099352	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7605	0.40530	0.2378:0.0:0.7622:0.0	.	.	.	.	X	78;118;118;118	.	ENSP00000297405:Y118X	Y	-	3	2	CSMD3	114396023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.635000	0.37134	1.352000	0.45808	0.557000	0.71058	TAC	.		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114326847	G	T	114326847	4	4	31	1	0	0	0	0	0	1	0	0	3955	1024	36	3	11049	3	CSMD3	8	114326847	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	215773	114326847	32037175	1248	6800											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	114449071	114449071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggctttcccctttgcGgatccctttcatattattcg	7	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114449071G>T	ENST00000297405.5	-	1	257	c.13C>A	c.(13-15)Cgc>Agc	p.R5S	CSMD3_ENST00000455883.2_Missense_Mutation_p.R5S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R5S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	5						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						TCCCCTTTGCGGATCCCTTTC	0.537										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R5S		.											.	CSMD3-1132	0			c.C13A						.						81	87	85					8																	114449071		2203	4300	6503	SO:0001583	missense	114788	exon1			CTTTGCGGATCCC	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.13C>A	8.37:g.114449071G>T	ENSP00000297405:p.Arg5Ser	Somatic	59	0	1458	WXS	Illumina GAIIx	Phase_I	74	24	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102302	0.20632	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.25085	2.25;1.82;2.25	5.66	3.63	0.41609	.	0.612772	0.13567	U	0.378355	T	0.10723	0.0262	N	0.08118	0	0.27973	N	0.936344	B;B;B;B	0.31193	0.017;0.039;0.312;0.01	B;B;B;B	0.28465	0.011;0.017;0.09;0.005	T	0.15954	-1.0419	10	0.24483	T	0.36	.	4.3475	0.11139	0.4223:0.0:0.5777:0.0	.	5;5;5;5	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	S	5	ENSP00000297405:R5S;ENSP00000412263:R5S;ENSP00000343124:R5S	ENSP00000297405:R5S	R	-	1	0	CSMD3	114518247	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.669000	0.54561	1.384000	0.46424	0.655000	0.94253	CGC	.		0.537	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	114449071	G	T	114449071	3	4	31	1	0	0	0	0	1	0	0	0	3955	1116	39	2	11456	2	CSMD3	8	114449071	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	122224	114449071	31914951	1249	6801											
SLC30A8	169026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	118183272	118183272	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccatctcttcccttttgtcaGgtgtgccaaagagcctgaat	8	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:118183272G>C	ENST00000456015.2	+	7	829		c.e7-1		SLC30A8_ENST00000427715.2_Splice_Site|SLC30A8_ENST00000521243.1_Splice_Site|SLC30A8_ENST00000519688.1_Splice_Site	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8						cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTTTTGTCAGGTGTGCCAAA	0.438																																					.	Ovarian(162;1202 1922 6011 16223 52092)	.											.	SLC30A8-229	0			c.683-1G>C						.						128	121	123					8																	118183272		2203	4300	6503	SO:0001630	splice_region_variant	169026	exon9			TTGTCAGGTGTGC		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.830-1G>C	8.37:g.118183272G>C		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	172	68	NM_001172811	0	0	0	0	0	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Splice_Site	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601615	0.66445	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9542	0.64137	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A8	118252453	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.945000	0.75947	2.442000	0.82660	0.650000	0.86243	.	.		0.438	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	Intron	C	118183272	G	C	118183272	5	2	31	1	0	0	0	0	0	0	1	0	14606	1014	35	3	855	3	SLC30A8	8	118183272	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3734201	118183272	28180750	1250	6802											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	22	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	31	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	2037504	120220776	26143246	1251	6803											
MAL2	114569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	120252405	120252405	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttttctctcctcttttagGattttgcctaccattttaca	3	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120252405G>A	ENST00000276681.6	+	4	406	c.304G>A	c.(304-306)Gat>Aat	p.D102N	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	102	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCTCTTTTAGGATTTTGCCTA	0.313																																					p.D102N		.											.	.	0			c.G304A						.						105	97	100					8																	120252405		1831	4095	5926	SO:0001630	splice_region_variant	114569	exon4			TTTTAGGATTTTG	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.304-1G>A	8.37:g.120252405G>A		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	24	8	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37																																																																																				.		0.313	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Missense_Mutation	A	120252405	G	A	120252405	5	1	31	1	0	0	0	0	0	0	1	0	9238	1188	41	3	315	3	MAL2	8	120252405	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	31629	120252405	26111617	1252	6804											
MAL2	114569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	120252497	120252497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgatttgcattgcaaTacaaccataaccgggcagcc	8	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120252497T>C	ENST00000276681.6	+	4	498	c.396T>C	c.(394-396)aaT>aaC	p.N132N	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	132	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TGCATTGCAATACAACCATAA	0.403																																					p.N132N		.											.	.	0			c.T396C						.						70	70	70					8																	120252497		1907	4119	6026	SO:0001819	synonymous_variant	114569	exon4			TTGCAATACAACC	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.396T>C	8.37:g.120252497T>C		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	57	13	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37																																																																																				.		0.403	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		C	120252497	T	C	120252497	2	2	31	1	0	0	0	0	0	0	0	1	9238	1403	49	4		4	MAL2	8	120252497	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	92	120252497	26111525	1253	6805											
COL14A1	7373	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	121215990	121215990	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagctgcaggagatcgcctCtgaaccagacagcactcatg	11	12	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:121215990C>A	ENST00000297848.3	+	9	1190	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	COL14A1_ENST00000247781.3_Missense_Mutation_p.S212Y|COL14A1_ENST00000309791.4_Missense_Mutation_p.S307Y|COL14A1_ENST00000537875.1_Missense_Mutation_p.S307Y|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAGATCGCCTCTGAACCAGAC	0.483																																					p.S307Y		.											.	COL14A1-543	0			c.C920A						.						140	120	127					8																	121215990		2203	4300	6503	SO:0001583	missense	7373	exon9			TCGCCTCTGAACC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.920C>A	8.37:g.121215990C>A	ENSP00000297848:p.Ser307Tyr	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	179	62	NM_021110	0	0	0	0	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978765	0.74360	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	D;D;D;T;D	0.85955	-1.51;-1.51;-1.51;0.31;-2.05	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.95745	3.715	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.95988	0.8983	10	0.66056	D	0.02	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	307	Q05707	COEA1_HUMAN	Y	307;307;307;212;120	ENSP00000443974:S307Y;ENSP00000311809:S307Y;ENSP00000297848:S307Y;ENSP00000247781:S212Y;ENSP00000409461:S120Y	ENSP00000247781:S212Y	S	+	2	0	COL14A1	121285171	1.000000	0.71417	0.958000	0.39756	0.442000	0.32017	7.638000	0.83328	2.642000	0.89623	0.561000	0.74099	TCT	.		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121215990	C	A	121215990	3	1	31	1	0	0	0	0	1	0	0	0	3678	913	32	3	950	3	COL14A1	8	121215990	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	963493	121215990	25148032	1254	6806											
TMEM65	157378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	125339634	125339634	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatccaaaaagccaaacccTatgaaaggtatcgcattgtg	7	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:125339634T>A	ENST00000297632.6	-	3	912	c.378A>T	c.(376-378)atA>atT	p.I126I		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	126						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCAAACCCTATGAAAGGTA	0.289																																					p.I126I		.											.	TMEM65-68	0			c.A378T						.						71	61	64					8																	125339634		2202	4294	6496	SO:0001819	synonymous_variant	157378	exon3			AAACCCTATGAAA	BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.378A>T	8.37:g.125339634T>A		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	190	51	NM_194291	0	0	0	0	0	Q8N5G8|Q8WVK5	Silent	SNP	ENST00000297632.6	37	CCDS6348.1																																																																																			.		0.289	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291		A	125339634	T	A	125339634	2	1	31	1	0	0	0	0	0	0	0	1	16241	1512	53	5		5	TMEM65	8	125339634	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4123644	125339634	21024388	1255	6807											
POU5F1B	5462	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	128428179	128428179	+	Frame_Shift_Del	DEL	G	G	-													cggtgggggtgatgggccatGgggggcggagccgggctggg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428179delG	ENST00000465342.2	+	2	1225	c.68delG	c.(67-69)tggfs	p.W23fs	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.W23fs|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	23				WGA -> GGP (in Ref. 5; ADE48566/ ADE48597). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GATGGGCCATGGGGGGCGGAG	0.706																																					p.W23fs		.											.	.	0			c.68delG						.						2	4	3					8																	128428179		499	1354	1853	SO:0001589	frameshift_variant	5462	exon1			GGCCATGGGGGGC	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.68delG	8.37:g.128428179delG	ENSP00000419298:p.Trp23fs	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	61	19	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Frame_Shift_Del	DEL	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.706	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		-	128428179	G	-	128428179	7	5	31	1	0	1	0	1	0	0	0	0	12321	1357	47	0	70	0	POU5F1B	8	128428179	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	3088545	128428179	17935843	1256	6808	54	3									
POU5F1B	5462	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr8	128428183	128428183	+	Silent	SNP	G	G	T													gggggtgatgggccatggggGgcggagccgggctgggttga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428183G>T	ENST00000465342.2	+	2	1229	c.72G>T	c.(70-72)ggG>ggT	p.G24G	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G24G|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	24				WGA -> GGP (in Ref. 5; ADE48566/ ADE48597). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GGCCATGGGGGGCGGAGCCGG	0.701																																					p.G24G		.											.	.	0			c.G72T						.						2	4	3					8																	128428183		509	1370	1879	SO:0001819	synonymous_variant	5462	exon1			ATGGGGGGCGGAG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.72G>T	8.37:g.128428183G>T		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	60	20	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.701	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		T	128428183	G	T	128428183	2	4	31	1	0	0	0	0	0	0	0	1	12321	1219	43	3		3	POU5F1B	8	128428183	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4	128428183	17935839	1257	6809	54	3									
POU5F1B	5462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	128428187	128428187	+	Missense_Mutation	SNP	G	G	C													gtgatgggccatggggggcgGagccgggctgggttgatcct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428187G>C	ENST00000465342.2	+	2	1233	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E26Q|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						ATGGGGGGCGGAGCCGGGCTG	0.701																																					p.E26Q		.											.	.	0			c.G76C						.						2	4	4					8																	128428187		538	1401	1939	SO:0001583	missense	5462	exon1			GGGGCGGAGCCGG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.76G>C	8.37:g.128428187G>C	ENSP00000419298:p.Glu26Gln	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	61	23	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	G	5.181	0.218978	0.09810	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.68025	-0.3;-0.3	1.21	-2.42	0.06542	.	0.151796	0.31020	N	0.008420	T	0.50939	0.1645	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.31971	-0.9924	10	0.48119	T	0.1	.	5.8915	0.18915	0.426:0.0:0.574:0.0	.	26	Q06416	P5F1B_HUMAN	Q	26	ENSP00000419298:E26Q;ENSP00000375557:E26Q	ENSP00000375557:E26Q	E	+	1	0	POU5F1B	128497369	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.419000	0.02460	-1.111000	0.02988	-1.490000	0.00973	GAG	.		0.701	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		C	128428187	G	C	128428187	3	2	31	1	0	0	0	0	1	0	0	0	12321	1175	41	3	78	3	POU5F1B	8	128428187	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4	128428187	17935835	1258	6810	54	3									
ADCY8	114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	131964240	131964240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacagaaagcacgagcCgctcctggaacaaatgaaga	12	10	0	3	rs138524416		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:131964240C>A	ENST00000286355.5	-	3	3207	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R372L|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	372					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)			AAGCACGAGCCGCTCCTGGAA	0.547										HNSCC(32;0.087)																											p.R372L		.											.	ADCY8-157	0			c.G1115T						.						89	80	83					8																	131964240		2203	4300	6503	SO:0001583	missense	114	exon3			ACGAGCCGCTCCT	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.1115G>T	8.37:g.131964240C>A	ENSP00000286355:p.Arg372Leu	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	216	59	NM_001115	0	0	0	0	0		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907641	0.72868	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81163	-1.46;-1.46	5.22	5.22	0.72569	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.76002	2.32	0.50039	D	0.999842	D;D	0.63880	0.993;0.981	D;P	0.71184	0.972;0.474	D	0.88738	0.3241	10	0.45353	T	0.12	.	18.1219	0.89574	0.0:1.0:0.0:0.0	.	372;372	E7EVL1;P40145	.;ADCY8_HUMAN	L	372	ENSP00000286355:R372L;ENSP00000367161:R372L	ENSP00000286355:R372L	R	-	2	0	ADCY8	132033422	1.000000	0.71417	0.999000	0.59377	0.453000	0.32348	7.772000	0.85439	2.566000	0.86566	0.655000	0.94253	CGG	C|1.000;T|0.000		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	131964240	C	A	131964240	3	1	31	1	0	0	0	0	1	0	0	0	300	652	23	2	2704	2	ADCY8	8	131964240	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3536053	131964240	14399782	1259	6811											
KCNQ3	3786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133187720	133187720	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggccccaccacagggcatCtgcataggtctcaaactcct	8	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:133187720C>A	ENST00000388996.4	-	5	1333	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D185Y|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D305Y	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	305			D -> G (in BFNS2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics). {ECO:0000269|PubMed:14534157}.		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)	CACAGGGCATCTGCATAGGTC	0.502																																					p.D305Y		.											.	KCNQ3-138	0			c.G913T						.						170	150	157					8																	133187720		2203	4300	6503	SO:0001583	missense	3786	exon5			GGGCATCTGCATA	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.913G>T	8.37:g.133187720C>A	ENSP00000373648:p.Asp305Tyr	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	227	108	NM_004519	0	0	0	0	0	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836554	0.91117	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98345	-4.88;-4.88;-4.88	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99521	1.0958	10	0.87932	D	0	-20.0615	18.7539	0.91825	0.0:1.0:0.0:0.0	.	305;305	E7ET42;O43525	.;KCNQ3_HUMAN	Y	305;185;305;294;184	ENSP00000373648:D305Y;ENSP00000429799:D185Y;ENSP00000428790:D305Y	ENSP00000373648:D305Y	D	-	1	0	KCNQ3	133256902	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GAT	.		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		A	133187720	C	A	133187720	3	1	31	1	0	0	0	0	1	0	0	0	8111	913	32	3	1749	3	KCNQ3	8	133187720	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1223480	133187720	13176302	1260	6812											
SLA	6503	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	134050829	134050829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctcttgctgccaccataCatcagggagatgcttttctt	7	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134050829C>A	ENST00000338087.5	-	9	1590	c.771G>T	c.(769-771)atG>atT	p.M257I	SLA_ENST00000524345.1_Missense_Mutation_p.M149I|SLA_ENST00000517648.1_Missense_Mutation_p.M230I|SLA_ENST00000395352.3_Missense_Mutation_p.M274I|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.M297I	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	257	SLA C-terminal.				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)			TGCCACCATACATCAGGGAGA	0.468																																					p.M297I		.											.	SLA-279	0			c.G891T						.						256	218	231					8																	134050829		2203	4300	6503	SO:0001583	missense	6503	exon7			ACCATACATCAGG		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.771G>T	8.37:g.134050829C>A	ENSP00000337548:p.Met257Ile	Somatic	196	2		WXS	Illumina GAIIx	Phase_I	244	72	NM_006748	0	0	0	0	0	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254079	0.05829	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.75154	-0.91;-0.86;-0.85;1.35;2.59	5.92	0.246	0.15516	.	0.869915	0.10817	N	0.630887	T	0.47525	0.1450	N	0.08118	0	0.24754	N	0.992969	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	0.31503	-0.9941	10	0.02654	T	1	-18.2806	9.3709	0.38252	0.0:0.5072:0.0:0.4928	.	230;257;257;257	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	I	257;297;274;149;230	ENSP00000337548:M257I;ENSP00000394049:M297I;ENSP00000378759:M274I;ENSP00000427928:M149I;ENSP00000428559:M230I	ENSP00000337548:M257I	M	-	3	0	SLA	134120011	0.798000	0.28890	0.992000	0.48379	0.764000	0.43329	-0.477000	0.06583	0.084000	0.17077	0.655000	0.94253	ATG	.		0.468	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			A	134050829	C	A	134050829	3	1	31	1	0	0	0	0	1	0	0	0	14408	478	17	3	63	3	SLA	8	134050829	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	863109	134050829	12313193	1261	6813											
SLA	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	134072520	134072520	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagaatgacccagtttagaGagcatcgtgcatcatttttc	10	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134072520G>C	ENST00000220616.4	+	41	7279				SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000427060.2_Silent_p.L2L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						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)		CCAGTTTAGAGAGCATCGTGC	0.512																																					p.L2L		.											.	SLA-279	0			c.C6G						.						98	98	98					8																	134072520		692	1591	2283	SO:0001627	intron_variant	6503	exon1			TTTAGAGAGCATC	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.7239+30252G>C	8.37:g.134072520G>C		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	173	54	NM_006748	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																			.		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	134072520	G	C	134072520	1	2	31	0	1	0	0	0	0	0	0	0	14408	929	33	3		3	SLA	8	134072520	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	21691	134072520	12291502	1262	6814											
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	134145773	134145773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatttgcaaccccctggcCtgactttgtaccccgtgctg	8	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134145773C>A	ENST00000220616.4	+	47	8097	c.8057C>A	c.(8056-8058)cCt>cAt	p.P2686H	TG_ENST00000542445.1_Missense_Mutation_p.P1056H|TG_ENST00000377869.1_Missense_Mutation_p.P2629H|TG_ENST00000519543.1_Missense_Mutation_p.P819H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2686					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)		ACCCCCTGGCCTGACTTTGTA	0.502																																					p.P2686H		.											.	TG-145	0			c.C8057A						.						134	127	129					8																	134145773		2203	4300	6503	SO:0001583	missense	7038	exon47			CCTGGCCTGACTT	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.8057C>A	8.37:g.134145773C>A	ENSP00000220616:p.Pro2686His	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	169	73	NM_003235	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284997	0.59867	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.70045	0.09;0.09;0.09;0.09;-0.45	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.214190	0.33005	N	0.005389	D	0.85630	0.5741	M	0.92459	3.31	0.38584	D	0.950264	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.91635	0.942;0.999;0.992	D	0.90347	0.4363	10	0.87932	D	0	.	15.7848	0.78294	0.0:1.0:0.0:0.0	.	819;1056;2686	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2629;1492;2686;805;1056;819;90	ENSP00000367100:P2629H;ENSP00000220616:P2686H;ENSP00000441693:P1056H;ENSP00000430430:P819H;ENSP00000430161:P90H	ENSP00000220616:P2686H	P	+	2	0	TG	134214955	0.999000	0.42202	1.000000	0.80357	0.575000	0.36095	5.250000	0.65432	2.359000	0.80004	0.561000	0.74099	CCT	.		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134145773	C	A	134145773	3	1	31	1	0	0	0	0	1	0	0	0	15860	681	24	3	8243	3	TG	8	134145773	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	73253	134145773	12218249	1263	6815											
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139158277	139158277	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgaaagtctttaccagccgGaggtctgcactgttccctaa	9	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139158277G>T	ENST00000395297.1	-	15	3635	c.3465C>A	c.(3463-3465)ctC>ctA	p.L1155L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1155								p.L1155L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCAGCCGGAGGTCTGCAC	0.438										HNSCC(54;0.14)																											p.L1155L		.											.	FAM135B-31	2	Substitution - coding silent(2)	lung(2)	c.C3465A						.						88	92	91					8																	139158277		2203	4300	6503	SO:0001819	synonymous_variant	51059	exon15			CAGCCGGAGGTCT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3465C>A	8.37:g.139158277G>T		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	67	25	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			.		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139158277	G	T	139158277	2	4	31	1	0	0	0	0	0	0	0	1	5468	1161	41	3		3	FAM135B	8	139158277	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5012504	139158277	7205745	1264	6816											
FAM135B	51059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139165292	139165292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctctggacaccttataaCttcttcatcagaatccattt	5	11	4	1	rs373153841		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139165292C>A	ENST00000395297.1	-	13	1596	c.1426G>T	c.(1426-1428)Gtt>Ttt	p.V476F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	476										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACCTTATAACTTCTTCATCA	0.373										HNSCC(54;0.14)																											p.V476F		.											.	FAM135B-31	0			c.G1426T						.	C	PHE/VAL	1,3801		0,1,1900	106	101	102		1426	0.9	0	8		102	0,8262		0,0,4131	no	missense	FAM135B	NM_015912.3	50	0,1,6031	AA,AC,CC		0.0,0.0263,0.0083	possibly-damaging	476/1407	139165292	1,12063	1901	4131	6032	SO:0001583	missense	51059	exon13			TTATAACTTCTTC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1426G>T	8.37:g.139165292C>A	ENSP00000378710:p.Val476Phe	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	163	33	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337682	0.24253	2.63E-4	0.0	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.03	0.866	0.19079	.	0.759834	0.12409	N	0.471464	T	0.12475	0.0303	L	0.46157	1.445	0.09310	N	1	P;P;B	0.39782	0.688;0.688;0.047	B;B;B	0.37304	0.246;0.246;0.037	T	0.17531	-1.0366	10	0.37606	T	0.19	-3.0919	3.2347	0.06760	0.1393:0.5669:0.1354:0.1583	.	476;476;476	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	476	ENSP00000378710:V476F	ENSP00000276737:V476F	V	-	1	0	FAM135B	139234474	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.111000	0.15458	0.238000	0.21222	0.655000	0.94253	GTT	.		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139165292	C	A	139165292	3	1	31	1	0	0	0	0	1	0	0	0	5468	565	20	3	2826	3	FAM135B	8	139165292	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7015	139165292	7198730	1265	6817											
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139190892	139190892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgagccaggccagatcCttgcttatctgctcagcgat	11	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139190892C>A	ENST00000395297.1	-	10	1085	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	305										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCCAGATCCTTGCTTATCT	0.517										HNSCC(54;0.14)																											p.K305N		.											.	FAM135B-31	0			c.G915T						.						142	140	140					8																	139190892		2044	4196	6240	SO:0001583	missense	51059	exon10			CAGATCCTTGCTT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.915G>T	8.37:g.139190892C>A	ENSP00000378710:p.Lys305Asn	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	235	58	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815274	0.50527	.	.	ENSG00000147724	ENST00000395297	T	0.79033	-1.23	5.26	1.96	0.26148	.	0.121926	0.53938	D	0.000056	T	0.79551	0.4465	L	0.56769	1.78	0.41422	D	0.987802	D	0.69078	0.997	P	0.60789	0.879	T	0.74702	-0.3576	10	0.23891	T	0.37	-26.0452	7.561	0.27851	0.0:0.6629:0.0:0.3371	.	305	Q49AJ0	F135B_HUMAN	N	305	ENSP00000378710:K305N	ENSP00000276737:K305N	K	-	3	2	FAM135B	139260074	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	0.777000	0.26718	0.710000	0.31997	0.561000	0.74099	AAG	.		0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139190892	C	A	139190892	3	1	31	1	0	0	0	0	1	0	0	0	5468	680	24	3	3349	3	FAM135B	8	139190892	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25600	139190892	7173130	1266	6818											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139712358	139712358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgctactacttacgggCatccgtggatgtggtgtgaa	13	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139712358C>A	ENST00000303045.6	-	32	3035	c.2589G>T	c.(2587-2589)atG>atT	p.M863I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.M863I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	863	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)			TACTTACGGGCATCCGTGGAT	0.557										HNSCC(7;0.00092)																											p.M863I		.											.	COL22A1-103	0			c.G2589T						.						82	71	75					8																	139712358		2203	4300	6503	SO:0001583	missense	169044	exon32			TACGGGCATCCGT	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.2589G>T	8.37:g.139712358C>A	ENSP00000303153:p.Met863Ile	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	136	47	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194019	0.01594	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.15	-2.28	0.06826	.	1.221790	0.05882	N	0.626704	D	0.83755	0.5323	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.0;0.024	B;B	0.32980	0.001;0.156	T	0.71583	-0.4549	10	0.31617	T	0.26	.	0.9802	0.01434	0.1558:0.3145:0.1525:0.3771	.	863;863	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	863;863;576	ENSP00000303153:M863I;ENSP00000387655:M863I	ENSP00000303153:M863I	M	-	3	0	COL22A1	139781540	0.164000	0.22935	0.005000	0.12908	0.060000	0.15804	-0.589000	0.05767	-0.496000	0.06650	-0.471000	0.05019	ATG	.		0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139712358	C	A	139712358	3	1	31	1	0	0	0	0	1	0	0	0	3688	710	25	3	2427	3	COL22A1	8	139712358	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	521466	139712358	6651664	1267	6819											
COL22A1	169044	hgsc.bcm.edu	37	chr8	139890282	139890282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcgggccgtgatGtagcggagcgcgtctcccgt	17	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139890282G>A	ENST00000303045.6	-	3	815	c.369C>T	c.(367-369)taC>taT	p.Y123Y	COL22A1_ENST00000435777.1_Silent_p.Y123Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	123	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCCGTGATGTAGCGGAGCG	0.706										HNSCC(7;0.00092)																											p.Y123Y		.											.	COL22A1-103	0			c.C369T						.						18	20	20					8																	139890282		2176	4246	6422	SO:0001819	synonymous_variant	169044	exon3			CGTGATGTAGCGG	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.369C>T	8.37:g.139890282G>A		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	130	15	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			.		0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139890282	G	A	139890282	2	1	31	1	0	0	0	0	0	0	0	1	3688	1372	48	3		3	COL22A1	8	139890282	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	177924	139890282	6473740	1268	6820											
ARC	23237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	143694448	143694448	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgggatgccctctactcGggctgggtccggtcactggc	14	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:143694448G>T	ENST00000356613.2	-	1	2385	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCTCTACTCGGGCTGGGTCC	0.706																																					p.P395P		.											.	ARC-135	0			c.C1185A						.						5	7	6					8																	143694448		2134	4217	6351	SO:0001819	synonymous_variant	23237	exon1			CTACTCGGGCTGG	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1185C>A	8.37:g.143694448G>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	143	44	NM_015193	0	0	0	0	0	B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	CCDS34950.1																																																																																			.		0.706	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			T	143694448	G	T	143694448	2	4	31	1	0	0	0	0	0	0	0	1	841	1103	39	2		2	ARC	8	143694448	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3804166	143694448	2669574	1269	6821											
ARC	23237	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	143694832	143694832	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tactgcaggaactccttcttGaactccacccagttcttcac	5	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:143694832G>C	ENST00000356613.2	-	1	2001	c.801C>G	c.(799-801)ttC>ttG	p.F267L	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTCCTTCTTGAACTCCACCC	0.617																																					p.F267L		.											.	ARC-135	0			c.C801G						.						42	44	44					8																	143694832		2203	4299	6502	SO:0001583	missense	23237	exon1			CTTCTTGAACTCC	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.801C>G	8.37:g.143694832G>C	ENSP00000349022:p.Phe267Leu	Somatic	126	1		WXS	Illumina GAIIx	Phase_I	169	87	NM_015193	0	0	0	0	0	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162642	0.78226	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.92	4.04	0.47022	.	0.000000	0.49916	U	0.000128	T	0.49012	0.1532	N	0.19112	0.55	0.40702	D	0.982493	D	0.61697	0.99	P	0.61003	0.882	T	0.38415	-0.9662	9	0.08381	T	0.77	-25.8133	12.6058	0.56523	0.0819:0.0:0.9181:0.0	.	267	Q7LC44	ARC_HUMAN	L	267	.	ENSP00000349022:F267L	F	-	3	2	ARC	143691834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.735000	0.47377	1.057000	0.40506	0.462000	0.41574	TTC	.		0.617	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			C	143694832	G	C	143694832	3	2	31	1	0	0	0	0	1	0	0	0	841	1281	45	3	393	3	ARC	8	143694832	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	384	143694832	2669190	1270	6822											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	31	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	684036	144378868	1985154	1271	6823											
TIGD5	84948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144681841	144681841	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctcagtgccgactgccgggGaggccgtgcgggggctagaa	18	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144681841G>T	ENST00000504548.2	+	1	1768	c.1768G>T	c.(1768-1770)Gag>Tag	p.E590*	EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Nonsense_Mutation_p.E541*|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	590						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			GACTGCCGGGGAGGCCGTGCG	0.687																																					p.E590X		.											.	TIGD5-90	0			c.G1768T						.						14	17	16					8																	144681841		2168	4278	6446	SO:0001587	stop_gained	84948	exon1			GCCGGGGAGGCCG	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1768G>T	8.37:g.144681841G>T	ENSP00000421489:p.Glu590*	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	166	66	NM_032862	0	0	0	0	0	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Nonsense_Mutation	SNP	ENST00000504548.2	37	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941083	0.92526	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	.	.	.	4.98	4.98	0.66077	.	0.000000	0.46145	U	0.000317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.2517	0.87044	0.0:0.0:1.0:0.0	.	.	.	.	X	590;541	.	ENSP00000315906:E541X	E	+	1	0	TIGD5	144752984	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	4.977000	0.63792	2.301000	0.77427	0.655000	0.94253	GAG	.		0.687	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		T	144681841	G	T	144681841	4	4	31	1	0	0	0	0	0	1	0	0	15946	1175	41	3	1770	3	TIGD5	8	144681841	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	302973	144681841	1682181	1272	6824											
FAM83H	286077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	144811162	144811162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctcccactcatcaccacggCacagtccaccagcaggaact	7	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144811162C>G	ENST00000388913.3	-	4	837	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	238					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCACCACGGCACAGTCCACC	0.652																																					p.A238P		.											.	FAM83H-92	0			c.G712C						.						69	82	78					8																	144811162		2117	4219	6336	SO:0001583	missense	286077	exon4			CCACGGCACAGTC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.712G>C	8.37:g.144811162C>G	ENSP00000373565:p.Ala238Pro	Somatic	177	2		WXS	Illumina GAIIx	Phase_I	224	95	NM_198488	0	0	0	0	0	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186067	0.78789	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	4.91	4.02	0.46733	.	0.595718	0.15675	N	0.250167	T	0.12220	0.0297	N	0.08118	0	0.27716	N	0.94528	D	0.67145	0.996	P	0.60012	0.867	T	0.13072	-1.0523	10	0.30854	T	0.27	.	5.5862	0.17275	0.0:0.7324:0.0:0.2676	.	238	Q6ZRV2	FA83H_HUMAN	P	238	ENSP00000373565:A238P	ENSP00000373565:A238P	A	-	1	0	FAM83H	144883150	1.000000	0.71417	0.726000	0.30738	0.965000	0.64279	3.082000	0.50128	2.436000	0.82500	0.555000	0.69702	GCC	.		0.652	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		G	144811162	C	G	144811162	3	3	31	1	0	0	0	0	1	0	0	0	5662	710	25	3	2835	3	FAM83H	8	144811162	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	129321	144811162	1552860	1273	6825											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	144940543	144940543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcctggatctcgccGcccaccacgcccgcggccac	9	21	2	0	rs369151354		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144940543G>A	ENST00000525985.1	-	2	6950	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G				P58107	EPIPL_HUMAN	epiplakin 1	2293						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)			GGATCTCGCCGCCCACCACGC	0.706																																					p.G2293G		.											.	EPPK1-25	0			c.C6879T						.	G		0,4344		0,0,2172	84	83	83		6879	1.6	1	8		83	1,8501		0,1,4250	no	coding-synonymous	EPPK1	NM_031308.1		0,1,6422	AA,AG,GG		0.0118,0.0,0.0078		2293/2420	144940543	1,12845	2172	4251	6423	SO:0001819	synonymous_variant	83481	exon1			CTCGCCGCCCACC	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.6879C>T	8.37:g.144940543G>A		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	256	25	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940543	G	A	144940543	2	1	31	1	0	0	0	0	0	0	0	1	5206	1074	38	1		1	EPPK1	8	144940543	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	129381	144940543	1423479	1274	6826											
EPPK1	83481	hgsc.bcm.edu	37	chr8	144940615	144940615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtcgatgacgaagccGgtggccgcctgcgcctccag	16	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						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)			TGACGAAGCCGGTGGCCGCCT	0.716																																					p.T2269T		.											.	EPPK1-25	0			c.C6807T						.						36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481	exon1			GAAGCCGGTGGCC	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.6807C>T	8.37:g.144940615G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	94	12	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940615	G	A	144940615	2	1	31	1	0	0	0	0	0	0	0	1	5206	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	72	144940615	1423407	1275	6827											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144941957	144941957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaatttctccaggcccCcactctgggctccatactcc	6	19	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144941957C>A	ENST00000525985.1	-	2	5536	c.5465G>T	c.(5464-5466)gGg>gTg	p.G1822V				P58107	EPIPL_HUMAN	epiplakin 1	1822						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)			CTCCAGGCCCCCACTCTGGGC	0.537																																					p.G1822V		.											.	EPPK1-25	0			c.G5465T						.						191	190	190					8																	144941957		2002	4169	6171	SO:0001583	missense	83481	exon1			AGGCCCCCACTCT	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.5465G>T	8.37:g.144941957C>A	ENSP00000436337:p.Gly1822Val	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	160	57	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	10.82	1.459010	0.26248	.	.	ENSG00000227184	ENST00000525985	T	0.61742	0.08	4.86	3.74	0.42951	.	.	.	.	.	T	0.25269	0.0614	N	0.00729	-1.24	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	9	0.31617	T	0.26	.	9.676	0.40041	0.7954:0.2046:0.0:0.0	.	1822	E9PPU0	.	V	1822	ENSP00000436337:G1822V	ENSP00000436337:G1822V	G	-	2	0	EPPK1	145013945	0.454000	0.25728	0.001000	0.08648	0.151000	0.21798	5.346000	0.65992	0.935000	0.37341	0.585000	0.79938	GGG	.		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144941957	C	A	144941957	3	1	31	1	0	0	0	0	1	0	0	0	5206	623	22	3	1801	3	EPPK1	8	144941957	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1342	144941957	1422065	1276	6828											
PLEC	5339	broad.mit.edu;bcgsc.ca	37	chr8	144991067	144991067	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccagcagccgctgccCcgtgatgttatccaccaggt	10	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144991067C>G	ENST00000322810.4	-	32	13502	c.13333G>C	c.(13333-13335)Ggg>Cgg	p.G4445R	PLEC_ENST00000354958.2_Missense_Mutation_p.G4286R|PLEC_ENST00000357649.2_Missense_Mutation_p.G4312R|PLEC_ENST00000436759.2_Missense_Mutation_p.G4335R|PLEC_ENST00000527096.1_Missense_Mutation_p.G4331R|PLEC_ENST00000345136.3_Missense_Mutation_p.G4308R|PLEC_ENST00000354589.3_Missense_Mutation_p.G4308R|PLEC_ENST00000356346.3_Missense_Mutation_p.G4294R|PLEC_ENST00000398774.2_Missense_Mutation_p.G4276R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4445	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGCTGCCCCGTGATGTTA	0.672																																					p.G4445R		.											.	PLEC-141	0			c.G13333C						.						32	38	36					8																	144991067		2092	4212	6304	SO:0001583	missense	5339	exon32			GCTGCCCCGTGAT	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.13333G>C	8.37:g.144991067C>G	ENSP00000323856:p.Gly4445Arg	Somatic	51	1		WXS	Illumina GAIIx	Phase_I	208	101	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659705	0.14645	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000005	D	0.82287	0.5004	M	0.74647	2.275	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	0.87578	0.998;0.998;0.998;0.995;0.998;0.998;0.998;0.998	D	0.83923	0.0302	10	0.87932	D	0	.	18.6388	0.91387	0.0:1.0:0.0:0.0	.	4335;4294;4286;4445;4276;4308;4312;4308	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	4308;4312;4308;4276;4445;4286;4294;4335;4331	ENSP00000344848:G4308R;ENSP00000350277:G4312R;ENSP00000346602:G4308R;ENSP00000381756:G4276R;ENSP00000323856:G4445R;ENSP00000347044:G4286R;ENSP00000348702:G4294R;ENSP00000388180:G4335R;ENSP00000434583:G4331R	ENSP00000323856:G4445R	G	-	1	0	PLEC	145063055	1.000000	0.71417	0.629000	0.29254	0.004000	0.04260	7.593000	0.82686	2.726000	0.93360	0.551000	0.68910	GGG	.		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144991067	C	G	144991067	3	3	31	1	0	0	0	0	1	0	0	0	12091	623	22	3	725	3	PLEC	8	144991067	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49110	144991067	1372955	1277	6829											
PLEC	5339	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	144991254	144991254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccaccgaggaggaacgGgagcggaaaccaccggcgtt	15	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144991254G>A	ENST00000322810.4	-	32	13315	c.13146C>T	c.(13144-13146)tcC>tcT	p.S4382S	PLEC_ENST00000354958.2_Silent_p.S4223S|PLEC_ENST00000357649.2_Silent_p.S4249S|PLEC_ENST00000436759.2_Silent_p.S4272S|PLEC_ENST00000527096.1_Silent_p.S4268S|PLEC_ENST00000345136.3_Silent_p.S4245S|PLEC_ENST00000354589.3_Silent_p.S4245S|PLEC_ENST00000356346.3_Silent_p.S4231S|PLEC_ENST00000398774.2_Silent_p.S4213S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4382	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGAGGAACGGGAGCGGAAAC	0.682																																					p.S4382S		.											.	PLEC-141	0			c.C13146T						.						50	65	60					8																	144991254		2127	4225	6352	SO:0001819	synonymous_variant	5339	exon32			GGAACGGGAGCGG	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.13146C>T	8.37:g.144991254G>A		Somatic	207	1		WXS	Illumina GAIIx	Phase_I	346	125	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991254	G	A	144991254	2	1	31	1	0	0	0	0	0	0	0	1	12091	1219	43	3		3	PLEC	8	144991254	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	187	144991254	1372768	1278	6830											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000398774.2_Silent_p.A1944A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	31	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6915	144998169	1365853	1279	6831											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000398774.2_Silent_p.A1937A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	36	36	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	31	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	21	144998190	1365832	1280	6832											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000398774.2_Silent_p.A1528A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	31	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1227	144999417	1364605	1281	6833											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000398774.2_Silent_p.L1152L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	39	39	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	31	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2367	145001784	1362238	1282	6834											
GPAA1	8733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	145140943	145140943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgctggagcaccacaCctacggcgccctgctcttcc	12	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145140943C>A	ENST00000355091.4	+	12	1902	c.1781C>A	c.(1780-1782)aCc>aAc	p.T594N	GPAA1_ENST00000361036.6_Missense_Mutation_p.T534N	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	594					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCACCACACCTACGGCGCC	0.647																																					p.T594N		.											.	GPAA1-90	0			c.C1781A						.						43	47	46					8																	145140943		2034	4175	6209	SO:0001583	missense	8733	exon12			ACCACACCTACGG	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1781C>A	8.37:g.145140943C>A	ENSP00000347206:p.Thr594Asn	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	98	12	NM_003801	0	0	0	0	0	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476536	0.44044	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.13	1.89	0.25635	.	0.691043	0.14013	N	0.347332	T	0.16257	0.0391	N	0.08118	0	0.26739	N	0.970439	B	0.18610	0.029	B	0.24701	0.055	T	0.29701	-1.0003	9	0.16896	T	0.51	-5.5837	5.3779	0.16176	0.0:0.4953:0.0:0.5047	.	594	O43292	GPAA1_HUMAN	N	594;534	.	ENSP00000347206:T594N	T	+	2	0	GPAA1	145212931	0.970000	0.33590	0.635000	0.29338	0.919000	0.55068	1.437000	0.34991	0.568000	0.29311	0.655000	0.94253	ACC	.		0.647	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		A	145140943	C	A	145140943	3	1	31	1	0	0	0	0	1	0	0	0	6613	507	18	3	1827	3	GPAA1	8	145140943	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	139159	145140943	1223079	1283	6835											
HEATR7A	727957	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	145245734	145245734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggagtacctagccaacctgGaccgagccccagaccccacg	10	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145245734G>T	ENST00000528919.1	+	7	731	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	MROH1_ENST00000534366.1_Missense_Mutation_p.D204Y|MROH1_ENST00000398656.4_Missense_Mutation_p.D204Y|MROH1_ENST00000423230.2_Missense_Mutation_p.D204Y|MROH1_ENST00000326134.5_Missense_Mutation_p.D204Y	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	204																	AGCCAACCTGGACCGAGCCCC	0.602																																					p.D204Y		.											.	.	0			c.G610T						.						92	99	97					8																	145245734		2084	4209	6293	SO:0001583	missense	727957	exon8			AACCTGGACCGAG		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.610G>T	8.37:g.145245734G>T	ENSP00000435565:p.Asp204Tyr	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	169	54	NM_001099280	0	0	0	0	0	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862425	0.91511	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.65916	-0.11;-0.18;-0.18;-0.18;-0.18	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.81049	0.4742	M	0.80616	2.505	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.951;0.996	D;D;D;P;D	0.91635	0.991;0.999;0.999;0.822;0.937	T	0.82261	-0.0545	10	0.72032	D	0.01	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	204;204;204;204;204	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	Y	204;204;204;204;204;136	ENSP00000388174:D204Y;ENSP00000381649:D204Y;ENSP00000436636:D204Y;ENSP00000435565:D204Y;ENSP00000321737:D204Y	ENSP00000321737:D204Y	D	+	1	0	HEATR7A	145317722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.432000	0.97498	2.825000	0.97269	0.655000	0.94253	GAC	.		0.602	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		T	145245734	G	T	145245734	3	4	31	1	0	0	0	0	1	0	0	0	7061	1174	41	3	632	3	HEATR7A	8	145245734	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	104791	145245734	1118288	1284	6836											
NFKBIL2	4796	hgsc.bcm.edu	37	chr8	145661675	145661675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggagaccctgacatggGcctgagaggcctctgggagt	17	10	1	3	rs7830832	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145661675G>A	ENST00000409379.3	-	17	2170	c.2141C>T	c.(2140-2142)gCc>gTc	p.A714V	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	714			A -> V (in dbSNP:rs7830832). {ECO:0000269|PubMed:15489334}.		cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCTGACATGGGCCTGAGAGGC	0.652													G|||	2215	0.442292	0.3192	0.4265	5008	,	,		13977	0.4246		0.4662	False		,,,				2504	0.6135				p.A714V		.											.	TONSL-92	0			c.C2141T						.	G	VAL/ALA	1506,2844		286,934,955	19	26	24		2141	2.8	0.1	8	dbSNP_116	24	3865,4627		955,1955,1336	yes	missense	TONSL	NM_013432.4	64	1241,2889,2291	AA,AG,GG		45.5134,34.6207,41.8237	probably-damaging	714/1379	145661675	5371,7471	2175	4246	6421	SO:0001583	missense	4796	exon17			ACATGGGCCTGAG		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2141C>T	8.37:g.145661675G>A	ENSP00000386239:p.Ala714Val	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_013432	0	0	0	0	0	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	856	0.39194139194139194	153	0.31097560975609756	148	0.4088397790055249	216	0.3776223776223776	339	0.4472295514511873	G	20.8	4.054738	0.75960	0.346207	0.455134	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.48836	0.8	3.73	2.85	0.33270	.	0.748949	0.12251	N	0.485589	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.14805	0.011	B	0.14578	0.011	T	0.45249	-0.9274	9	0.26408	T	0.33	-5.5318	7.1129	0.25401	0.1264:0.0:0.8736:0.0	rs7830832;rs17850384;rs59752457;rs7830832	714	Q96HA7	TONSL_HUMAN	V	714;713	ENSP00000386239:A714V	ENSP00000386239:A714V	A	-	2	0	TONSL	145632483	0.001000	0.12720	0.074000	0.20217	0.742000	0.42306	0.522000	0.22909	0.902000	0.36520	0.462000	0.41574	GCC	G|0.593;A|0.407		0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145661675	G	A	145661675	3	1	31	1	0	0	0	0	1	0	0	0	10421	1203	42	3	2035	3	NFKBIL2	8	145661675	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	415941	145661675	702347	1285	6837											
CYHR1	50626	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	145678757	145678757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatctcacaacgacaattGgggcacgtggcctgctcctc	10	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145678757G>A	ENST00000438911.2	-	3	466	c.333C>T	c.(331-333)ccC>ccT	p.P111P	CYHR1_ENST00000530374.1_Silent_p.P153P	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	111						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AACGACAATTGGGGCACGTGG	0.572																																					p.P111P		.											.	CYHR1-90	0			c.C333T						.						103	94	97					8																	145678757		692	1591	2283	SO:0001819	synonymous_variant	50626	exon3			ACAATTGGGGCAC	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.333C>T	8.37:g.145678757G>A		Somatic	189	2		WXS	Illumina GAIIx	Phase_I	264	113	NM_138496	0	0	0	0	0	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Silent	SNP	ENST00000438911.2	37	CCDS47943.1																																																																																			.		0.572	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687		A	145678757	G	A	145678757	2	1	31	1	0	0	0	0	0	0	0	1	4149	1335	47	3		3	CYHR1	8	145678757	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	17082	145678757	685265	1286	6838											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	21	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	31	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	354590	146033347	330675	1287	6839											
KANK1	23189	ucsc.edu;bcgsc.ca	37	chr9	712593	712593	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacacagaggagtcTgtgaacgacctcacactcct	10	13	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:712593T>A	ENST00000382303.1	+	7	2479	c.1827T>A	c.(1825-1827)tcT>tcA	p.S609S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S609S|KANK1_ENST00000382293.3_Silent_p.S451S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	609					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGAGGAGTCTGTGAACGACC	0.498																																					p.S609S		.											.	KANK1-517	0			c.T1827A						.						177	153	161					9																	712593		2203	4300	6503	SO:0001819	synonymous_variant	23189	exon7			GGAGTCTGTGAAC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1827T>A	9.37:g.712593T>A		Somatic	234	3		WXS	Illumina GAIIx	Phase_I	181	106	NM_001256876	0	0	0	0	0	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			.		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	712593	T	A	712593	2	1	31	1	0	0	0	0	0	0	0	1	8003	1567	55	5		5	KANK1	9	712593	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10		712593	140500838	1288	6840											
DMRT3	58524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	990798	990798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagtatcagctgagGtcccagtatgtcagtccttt	10	11	2	1	rs148970201		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:990798G>T	ENST00000190165.2	+	2	1250	c.1212G>T	c.(1210-1212)agG>agT	p.R404S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	404					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCTGAGGTCCCAGTATG	0.567																																					p.R404S		.											.	DMRT3-516	0			c.G1212T						.						77	57	64					9																	990798		2203	4300	6503	SO:0001583	missense	58524	exon2			GCTGAGGTCCCAG	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1212G>T	9.37:g.990798G>T	ENSP00000190165:p.Arg404Ser	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	98	55	NM_021240	0	0	0	0	0	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456849	0.63401	.	.	ENSG00000064218	ENST00000190165	T	0.27402	1.67	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.32530	0.975	0.54753	D	0.99998	D	0.76494	0.999	D	0.78314	0.991	T	0.17410	-1.0370	10	0.44086	T	0.13	-33.2877	12.3912	0.55360	0.0766:0.0:0.9234:0.0	.	404	Q9NQL9	DMRT3_HUMAN	S	404	ENSP00000190165:R404S	ENSP00000190165:R404S	R	+	3	2	DMRT3	980798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.834000	0.39171	2.495000	0.84180	0.655000	0.94253	AGG	G|0.999;A|0.000		0.567	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		T	990798	G	T	990798	3	4	31	1	0	0	0	0	1	0	0	0	4601	1252	44	3	1218	3	DMRT3	9	990798	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	278205	990798	140222633	1289	6841											
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	8518129	8518129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgcctggacatccctcGgggcactggatggtgcttgc	14	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:8518129G>T	ENST00000381196.4	-	18	1805	c.1262C>A	c.(1261-1263)cCg>cAg	p.P421Q	PTPRD_ENST00000397606.3_Missense_Mutation_p.P411Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.P418Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.P411Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.P418Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.P408Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.P421Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.P421Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P408Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.P421Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P421Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACATCCCTCGGGGCACTGGA	0.498										TSP Lung(15;0.13)																											p.P421Q		.											.	PTPRD-912	0			c.C1262A						.						165	157	160					9																	8518129		2203	4300	6503	SO:0001583	missense	5789	exon10			TCCCTCGGGGCAC	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.1262C>A	9.37:g.8518129G>T	ENSP00000370593:p.Pro421Gln	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	138	64	NM_130392	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305714	0.60305	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	H	0.99011	4.4	0.80722	D	1	D;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.823;1.0;1.0;1.0;1.0	D;D;D;D;P;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.682;1.0;1.0;1.0;1.0	D	0.94785	0.7957	9	.	.	.	.	18.9787	0.92747	0.0:0.0:1.0:0.0	.	411;415;421;421;418;418;408;421;421	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	421;421;408;408;421;411;418;418;421;421;421;411	ENSP00000370593:P421Q;ENSP00000348812:P421Q;ENSP00000353187:P408Q;ENSP00000351293:P408Q;ENSP00000347373:P421Q;ENSP00000380741:P411Q;ENSP00000380735:P418Q;ENSP00000440515:P418Q;ENSP00000438164:P421Q;ENSP00000417093:P421Q;ENSP00000380731:P411Q	.	P	-	2	0	PTPRD	8508129	1.000000	0.71417	0.949000	0.38748	0.086000	0.17979	9.807000	0.99171	2.484000	0.83849	0.467000	0.42956	CCG	.		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8518129	G	T	8518129	3	4	31	1	0	0	0	0	1	0	0	0	12844	1116	39	2	4648	2	PTPRD	9	8518129	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7527331	8518129	132695302	1290	6842											
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	8636699	8636699	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaacaatggacctaatacCtcaaatctctgattgctgac	6	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:8636699C>A	ENST00000381196.4	-	10	753	c.210G>T	c.(208-210)gaG>gaT	p.E70D	PTPRD_ENST00000397606.3_Splice_Site_p.E70D|PTPRD_ENST00000397611.3_Splice_Site_p.E70D|PTPRD_ENST00000397617.3_Splice_Site_p.E70D|PTPRD_ENST00000537002.1_Splice_Site_p.E70D|PTPRD_ENST00000463477.1_Splice_Site_p.E70D|PTPRD_ENST00000358503.5_Splice_Site_p.E70D|PTPRD_ENST00000355233.5_Splice_Site_p.E70D|PTPRD_ENST00000486161.1_Splice_Site_p.E70D|PTPRD_ENST00000360074.4_Splice_Site_p.E70D|PTPRD_ENST00000540109.1_Splice_Site_p.E70D|PTPRD_ENST00000356435.5_Splice_Site_p.E70D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	70	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCTAATACCTCAAATCTCT	0.433										TSP Lung(15;0.13)																											p.E70D		.											.	PTPRD-912	0			c.G210T						.						147	133	138					9																	8636699		2203	4300	6503	SO:0001630	splice_region_variant	5789	exon2			TAATACCTCAAAT	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.210+1G>T	9.37:g.8636699C>A		Somatic	213	0		WXS	Illumina GAIIx	Phase_I	138	88	NM_001040712	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762495	0.89932	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.57	5.57	0.84162	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	L	0.41027	1.25	0.80722	D	1	P;P;D;D;D;B;D;P;P;P	0.63880	0.931;0.792;0.985;0.993;0.993;0.372;0.982;0.465;0.483;0.521	D;P;P;D;D;B;P;B;B;B	0.66351	0.943;0.504;0.885;0.939;0.939;0.12;0.903;0.41;0.217;0.407	T	0.72304	-0.4333	9	.	.	.	.	19.5464	0.95299	0.0:1.0:0.0:0.0	.	70;70;70;70;70;70;70;70;70;70	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	70	ENSP00000370593:E70D;ENSP00000348812:E70D;ENSP00000353187:E70D;ENSP00000351293:E70D;ENSP00000347373:E70D;ENSP00000380741:E70D;ENSP00000380735:E70D;ENSP00000440515:E70D;ENSP00000438164:E70D;ENSP00000417093:E70D;ENSP00000380731:E70D;ENSP00000417661:E70D;ENSP00000417890:E70D	.	E	-	3	2	PTPRD	8626699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.615000	0.88500	0.557000	0.71058	GAG	.		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Missense_Mutation	A	8636699	C	A	8636699	5	1	31	1	0	0	0	0	0	0	1	0	12844	695	24	3	5732	3	PTPRD	9	8636699	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	118570	8636699	132576732	1291	6843											
FREM1	158326	bcgsc.ca	37	chr9	14842322	14842322	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccagaacttacctatcagtCctggccctggcttcttcatg	7	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:14842322C>G	ENST00000380880.3	-	9	2513	c.1730G>C	c.(1729-1731)gGa>gCa	p.G577A	FREM1_ENST00000422223.2_Missense_Mutation_p.G577A|FREM1_ENST00000380881.4_Missense_Mutation_p.G578A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	577					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCTATCAGTCCTGGCCCTGG	0.463																																					p.G577A		.											.	FREM1-138	0			c.G1730C						.						96	94	95					9																	14842322		1934	4131	6065	SO:0001583	missense	158326	exon10			ATCAGTCCTGGCC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1730G>C	9.37:g.14842322C>G	ENSP00000370262:p.Gly577Ala	Somatic	102	3		WXS	Illumina GAIIx	Phase_I	61	27	NM_144966	0	0	0	0	0	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860638	0.32884	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.84800	-1.9;-1.9;-1.9	5.93	5.93	0.95920	.	0.365840	0.31450	N	0.007634	T	0.82015	0.4945	M	0.68317	2.08	0.32655	N	0.518813	B	0.24618	0.107	B	0.25987	0.065	T	0.80686	-0.1272	10	0.38643	T	0.18	-7.3775	7.779	0.29054	0.0:0.812:0.0:0.188	.	577	Q5H8C1	FREM1_HUMAN	A	578;577;577	ENSP00000370263:G578A;ENSP00000412940:G577A;ENSP00000370262:G577A	ENSP00000370257:G580A	G	-	2	0	FREM1	14832322	0.993000	0.37304	1.000000	0.80357	0.946000	0.59487	2.903000	0.48711	2.826000	0.97356	0.655000	0.94253	GGA	.		0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14842322	C	G	14842322	3	3	31	1	0	0	0	0	1	0	0	0	6068	855	30	3	4975	3	FREM1	9	14842322	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6205623	14842322	126371109	1292	6844											
HAUS6	54801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	19063554	19063554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctatctgatgatgaaacTgactgcgacaagaaagaggc	10	7	2	6			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:19063554T>C	ENST00000380502.3	-	13	1868	c.1401A>G	c.(1399-1401)tcA>tcG	p.S467S	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Silent_p.S331S	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	467					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						ATGATGAAACTGACTGCGACA	0.303																																					p.S467S		.											.	HAUS6-92	0			c.A1401G						.						47	46	47					9																	19063554		2203	4300	6503	SO:0001819	synonymous_variant	54801	exon13			TGAAACTGACTGC	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.1401A>G	9.37:g.19063554T>C		Somatic	234	0		WXS	Illumina GAIIx	Phase_I	139	77	NM_017645	0	0	0	0	0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			.		0.303	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		C	19063554	T	C	19063554	2	2	31	1	0	0	0	0	0	0	0	1	6997	1567	55	4		4	HAUS6	9	19063554	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4221232	19063554	122149877	1293	6845											
LINGO2	158038	ucsc.edu;bcgsc.ca	37	chr9	27949236	27949236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgcaaacatacatcccGctgtcttgatcctgggcaaa	9	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:27949236G>T	ENST00000379992.2	-	6	1883	c.1434C>A	c.(1432-1434)agC>agA	p.S478R	LINGO2_ENST00000308675.3_Missense_Mutation_p.S478R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502																																					p.S478R		.											.	LINGO2-516	0			c.C1434A						.						90	84	86					9																	27949236		2203	4300	6503	SO:0001583	missense	158038	exon7			CATCCCGCTGTCT	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1434C>A	9.37:g.27949236G>T	ENSP00000369328:p.Ser478Arg	Somatic	108	2		WXS	Illumina GAIIx	Phase_I	62	34	NM_001258282	0	0	0	0	0	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051813	0.08291	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.69040	-0.37;-0.37	5.83	-11.7	0.00046	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140698	0.64402	D	0.000006	T	0.43743	0.1261	N	0.17594	0.5	0.29902	N	0.82433	B	0.22800	0.075	B	0.38655	0.278	T	0.46400	-0.9194	9	.	.	.	.	11.0728	0.48014	0.3054:0.0781:0.5398:0.0766	.	478	Q7L985	LIGO2_HUMAN	R	478	ENSP00000369328:S478R;ENSP00000310126:S478R	.	S	-	3	2	LINGO2	27939236	0.250000	0.23951	0.514000	0.27761	0.697000	0.40408	-0.131000	0.10482	-2.025000	0.00935	-1.728000	0.00702	AGC	.		0.502	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27949236	G	T	27949236	3	4	31	1	0	0	0	0	1	0	0	0	8845	1078	38	2	390	2	LINGO2	9	27949236	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8885682	27949236	113264195	1294	6846											
TMEM8B	51754	bcgsc.ca	37	chr9	35842566	35842566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgcccgactctgcgcaAcgagctggacaccttctctg	11	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:35842566A>T	ENST00000377991.4	+	7	1146	c.131A>T	c.(130-132)aAc>aTc	p.N44I	TMEM8B_ENST00000377988.2_Missense_Mutation_p.N44I|TMEM8B_ENST00000377996.1_Missense_Mutation_p.N44I|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Missense_Mutation_p.N44I	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	44					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ACTCTGCGCAACGAGCTGGAC	0.657																																					p.N44I		.											.	TMEM8B-91	0			c.A131T						.						88	69	75					9																	35842566		2203	4300	6503	SO:0001583	missense	51754	exon6			TGCGCAACGAGCT	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.131A>T	9.37:g.35842566A>T	ENSP00000367230:p.Asn44Ile	Somatic	145	3		WXS	Illumina GAIIx	Phase_I	110	61	NM_001042590	0	0	0	0	0	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	A	31	5.087931	0.94100	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.51325	0.71;0.71;0.75;0.75	5.54	5.54	0.83059	.	0.044963	0.85682	D	0.000000	T	0.61615	0.2361	L	0.44542	1.39	0.54753	D	0.99998	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.64141	-0.6477	10	0.72032	D	0.01	-6.9693	14.8046	0.69942	1.0:0.0:0.0:0.0	.	44;408	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	I	44	ENSP00000367235:N44I;ENSP00000395810:N44I;ENSP00000367230:N44I;ENSP00000367227:N44I	ENSP00000367227:N44I	N	+	2	0	TMEM8B	35832566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.928000	0.92853	2.234000	0.73211	0.460000	0.39030	AAC	.		0.657	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		T	35842566	A	T	35842566	3	4	31	1	0	0	0	0	1	0	0	0	16262	43	2	5	133	5	TMEM8B	9	35842566	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	7893330	35842566	105370865	1295	6847											
CCIN	881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	36170829	36170829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttatatctcccgggtcgggGtagtggactgctttgacacc	13	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:36170829G>T	ENST00000335119.2	+	1	1441	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCGGGTCGGGGTAGTGGACTG	0.547																																					p.V444L		.											.	CCIN-92	0			c.G1330T						.						123	102	109					9																	36170829		2203	4300	6503	SO:0001583	missense	881	exon1			GTCGGGGTAGTGG	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1330G>T	9.37:g.36170829G>T	ENSP00000334996:p.Val444Leu	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	156	86	NM_005893	0	0	0	0	0	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935314	0.34189	.	.	ENSG00000185972	ENST00000335119	T	0.65916	-0.18	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.000000	0.49305	D	0.000146	T	0.65417	0.2689	L	0.27053	0.805	0.35369	D	0.788889	P	0.44690	0.841	P	0.58820	0.846	T	0.67738	-0.5593	10	0.27082	T	0.32	.	15.3816	0.74661	0.0:0.0:1.0:0.0	.	444	Q13939	CALI_HUMAN	L	444	ENSP00000334996:V444L	ENSP00000334996:V444L	V	+	1	0	CCIN	36160829	1.000000	0.71417	0.590000	0.28732	0.872000	0.50106	3.885000	0.56182	2.699000	0.92147	0.491000	0.48974	GTA	.		0.547	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		T	36170829	G	T	36170829	3	4	31	1	0	0	0	0	1	0	0	0	2885	1261	44	3	1332	3	CCIN	9	36170829	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	328263	36170829	105042602	1296	6848											
FAM75A6	389730	broad.mit.edu;mdanderson.org	37	chr9	43626768	43626768	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtggacgtggaggacTgccagggactgggtttgccc	16	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43626768T>A	ENST00000332857.6	-	4	1947	c.1919A>T	c.(1918-1920)cAg>cTg	p.Q640L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	640					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGTGGAGGACTGCCAGGGACT	0.577																																					p.Q640L		.											.	.	0			c.A1919T						.						7	6	6					9																	43626768		452	1099	1551	SO:0001583	missense	389730	exon4			GAGGACTGCCAGG		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.1919A>T	9.37:g.43626768T>A	ENSP00000329825:p.Gln640Leu	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	27	15	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846436	0.16963	.	.	ENSG00000185775	ENST00000332857	T	0.07688	3.17	2.44	-3.13	0.05266	.	1.854440	0.02688	N	0.110295	T	0.09291	0.0229	L	0.52126	1.63	0.09310	N	1	P	0.37276	0.589	B	0.40009	0.316	T	0.34976	-0.9807	10	0.10636	T	0.68	4.3693	7.2469	0.26127	0.0:0.5813:0.0:0.4187	.	640	Q5VVP1	F75A6_HUMAN	L	640	ENSP00000329825:Q640L	ENSP00000329825:Q640L	Q	-	2	0	FAM75A6	43566764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.259000	0.01178	-0.712000	0.04988	-0.585000	0.04130	CAG	.		0.577	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43626768	T	A	43626768	3	1	31	1	0	0	0	0	1	0	0	0	5644	1580	55	5	2116	5	FAM75A6	9	43626768	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	7455939	43626768	97586663	1297	6849											
FAM75A6	389730	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	43627064	43627064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgtttcctcaacaaaggCcattcagggtgctgagtttc	10	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43627064C>A	ENST00000332857.6	-	4	1651	c.1623G>T	c.(1621-1623)tgG>tgT	p.W541C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	541					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAACAAAGGCCATTCAGGGT	0.488																																					p.W541C		.											.	.	0			c.G1623T						.						6	6	6					9																	43627064		594	1504	2098	SO:0001583	missense	389730	exon4			CAAAGGCCATTCA		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.1623G>T	9.37:g.43627064C>A	ENSP00000329825:p.Trp541Cys	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	16	10	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662309	0.03454	.	.	ENSG00000185775	ENST00000332857	T	0.07327	3.2	2.35	-2.54	0.06307	.	0.740503	0.12169	N	0.493176	T	0.05318	0.0141	L	0.31420	0.93	0.09310	N	1	B	0.20459	0.045	B	0.27796	0.083	T	0.39742	-0.9599	10	0.39692	T	0.17	-0.0666	2.5646	0.04780	0.389:0.3456:0.0:0.2654	.	541	Q5VVP1	F75A6_HUMAN	C	541	ENSP00000329825:W541C	ENSP00000329825:W541C	W	-	3	0	FAM75A6	43567060	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.828000	0.04419	-0.601000	0.05783	-0.932000	0.02703	TGG	.		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		A	43627064	C	A	43627064	3	1	31	1	0	0	0	0	1	0	0	0	5644	740	26	3	2412	3	FAM75A6	9	43627064	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	296	43627064	97586367	1298	6850											
KLF9	687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	73027994	73027994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcggtggtcacgtcgctgtCggatcccatatcctcatctg	10	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:73027994C>G	ENST00000377126.2	-	1	1546	c.286G>C	c.(286-288)Gac>Cac	p.D96H		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	96	Asp/Glu-rich (acidic).				cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						ACGTCGCTGTCGGATCCCATA	0.617																																					p.D96H		.											.	KLF9-90	0			c.G286C						.						146	122	130					9																	73027994		2203	4300	6503	SO:0001583	missense	687	exon1			CGCTGTCGGATCC	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.286G>C	9.37:g.73027994C>G	ENSP00000366330:p.Asp96His	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	230	39	NM_001206	0	0	0	0	0	B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745113	0.69418	.	.	ENSG00000119138	ENST00000377126	T	0.05258	3.47	4.85	4.85	0.62838	.	0.086469	0.47093	D	0.000251	T	0.04407	0.0121	N	0.02011	-0.69	0.53005	D	0.999969	D	0.60160	0.987	P	0.49922	0.626	T	0.61549	-0.7040	10	0.13470	T	0.59	.	16.7593	0.85507	0.0:1.0:0.0:0.0	.	96	Q13886	KLF9_HUMAN	H	96	ENSP00000366330:D96H	ENSP00000366330:D96H	D	-	1	0	KLF9	72217814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.947000	0.49058	2.250000	0.74265	0.557000	0.71058	GAC	.		0.617	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		G	73027994	C	G	73027994	3	3	31	1	0	0	0	0	1	0	0	0	8380	884	31	2	456	2	KLF9	9	73027994	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	29400930	73027994	68185437	1299	6851											
TMEM2	23670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	74349872	74349872	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaatttagcttcactcCatctacaacctctacccgga	4	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:74349872C>A	ENST00000377044.4	-	6	1782	c.1243G>T	c.(1243-1245)Gga>Tga	p.G415*	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	415					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)		AGCTTCACTCCATCTACAACC	0.378																																					p.G415X		.											.	TMEM2-92	0			c.G1243T						.						181	170	174					9																	74349872		2203	4300	6503	SO:0001587	stop_gained	23670	exon6			TCACTCCATCTAC		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.1243G>T	9.37:g.74349872C>A	ENSP00000366243:p.Gly415*	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	76	20	NM_013390	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	43	10.256191	0.99369	.	.	ENSG00000135048	ENST00000377044	.	.	.	6.08	6.08	0.98989	.	0.153579	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	415	.	ENSP00000366243:G415X	G	-	1	0	TMEM2	73539692	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.532000	0.60608	2.894000	0.99253	0.655000	0.94253	GGA	.		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		A	74349872	C	A	74349872	4	1	31	1	0	0	0	0	0	1	0	0	16168	603	21	3	2984	3	TMEM2	9	74349872	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1321878	74349872	66863559	1300	6852											
GDA	9615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	74810477	74810477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagaatggtgcttcaagcCgtgtgaaataagagaactga	11	6	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:74810477C>A	ENST00000358399.3	+	2	278	c.185C>A	c.(184-186)cCg>cAg	p.P62Q	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.P20Q|GDA_ENST00000545168.1_De_novo_Start_OutOfFrame|GDA_ENST00000376989.3_Missense_Mutation_p.P37Q|GDA_ENST00000238018.4_Missense_Mutation_p.P62Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	62					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGCTTCAAGCCGTGTGAAATA	0.358																																					p.P62Q		.											.	GDA-230	0			c.C185A						.						72	70	71					9																	74810477		2203	4300	6503	SO:0001583	missense	9615	exon2			TCAAGCCGTGTGA	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.185C>A	9.37:g.74810477C>A	ENSP00000351170:p.Pro62Gln	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	48	14	NM_004293	0	0	0	0	0	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405065	0.42613	.	.	ENSG00000119125	ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.22	5.22	0.72569	.	0.363661	0.31834	N	0.006984	T	0.51770	0.1694	N	0.22421	0.69	0.80722	D	1	B;B;B	0.25609	0.13;0.026;0.003	B;B;B	0.30105	0.111;0.016;0.003	T	0.48043	-0.9069	9	0.33940	T	0.23	-5.561	16.9899	0.86351	0.0:1.0:0.0:0.0	.	20;62;62	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	Q	62;37;20;62	.	ENSP00000238018:P62Q	P	+	2	0	GDA	74000297	0.631000	0.27164	0.910000	0.35882	0.963000	0.63663	2.307000	0.43682	2.443000	0.82685	0.585000	0.79938	CCG	.		0.358	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			A	74810477	C	A	74810477	3	1	31	1	0	0	0	0	1	0	0	0	6331	652	23	2	191	2	GDA	9	74810477	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	460605	74810477	66402954	1301	6853											
RORB	6096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	77249546	77249546	+	Splice_Site	DEL	G	G	-													cccttctctttttccctcaaGggattctttaggaggagcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77249546delG	ENST00000396204.2	+	3	126		c.e3-1		RORB_ENST00000376896.3_Splice_Site			Q92753	RORB_HUMAN	RAR-related orphan receptor B						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)	TTTCCCTCAAGGGATTCTTTA	0.408																																					.		.											.	RORB-229	0			c.94-1G>-						.						34	33	34					9																	77249546		2202	4300	6502	SO:0001630	splice_region_variant	6096	exon3			CCTCAAGGGATTC	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.127-1G>-	9.37:g.77249546delG		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	45	15	NM_006914	0	0	0	0	0	Q8WX73	Splice_Site	DEL	ENST00000396204.2	37																																																																																				.		0.408	RORB-201	KNOWN	basic	protein_coding	protein_coding			Intron	-	77249546	G	-	77249546	8	5	31	1	0	1	0	1	0	0	1	0	13574	1014	35	0	103	0	RORB	9	77249546	Splice_Site	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	2439069	77249546	63963885	1302	6854											
TRPM6	140803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	77423024	77423024	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgctgcgatatgctctacCaatgaggtattctactacta	8	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77423024C>A	ENST00000360774.1	-	14	1801	c.1564G>T	c.(1564-1566)Ggt>Tgt	p.G522C	TRPM6_ENST00000451710.3_Missense_Mutation_p.G522C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G522C|TRPM6_ENST00000376872.3_Missense_Mutation_p.G522C|TRPM6_ENST00000361255.3_Missense_Mutation_p.G517C|TRPM6_ENST00000449912.2_Missense_Mutation_p.G517C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	522					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						TATGCTCTACCAATGAGGTAT	0.383																																					p.G522C		.											.	TRPM6-335	0			c.G1564T						.						224	215	218					9																	77423024		2203	4300	6503	SO:0001583	missense	140803	exon14			CTCTACCAATGAG	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.1564G>T	9.37:g.77423024C>A	ENSP00000354006:p.Gly522Cys	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	155	46	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974159	0.92919	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.04;-0.78;-0.78;-0.78	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.983	D	0.91769	0.5426	10	0.87932	D	0	.	19.9279	0.97110	0.0:1.0:0.0:0.0	.	522;522;517	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	522;522;522;517;517;522;185;185	ENSP00000354006:G522C;ENSP00000407341:G522C;ENSP00000366068:G522C;ENSP00000396672:G517C;ENSP00000354962:G517C;ENSP00000366060:G522C	ENSP00000309693:G185C	G	-	1	0	TRPM6	76612844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.715000	0.92844	0.655000	0.94253	GGT	.		0.383	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77423024	C	A	77423024	3	1	31	1	0	0	0	0	1	0	0	0	16638	594	21	3	4608	3	TRPM6	9	77423024	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	173478	77423024	63790407	1303	6855											
TRPM6	140803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	77431651	77431651	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgtcccaagccattgcCagatttaattgctctgacgc	7	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77431651C>A	ENST00000360774.1	-	11	1479	c.1242G>T	c.(1240-1242)ctG>ctT	p.L414L	TRPM6_ENST00000451710.3_Silent_p.L414L|TRPM6_ENST00000376871.3_Silent_p.L414L|TRPM6_ENST00000376864.4_Silent_p.L414L|TRPM6_ENST00000376872.3_Silent_p.L414L|TRPM6_ENST00000361255.3_Silent_p.L409L|TRPM6_ENST00000449912.2_Silent_p.L409L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	414					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						AAGCCATTGCCAGATTTAATT	0.358																																					p.L414L		.											.	TRPM6-335	0			c.G1242T						.						113	112	112					9																	77431651		2203	4300	6503	SO:0001819	synonymous_variant	140803	exon11			CATTGCCAGATTT	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.1242G>T	9.37:g.77431651C>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	50	14	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			.		0.358	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77431651	C	A	77431651	2	1	31	1	0	0	0	0	0	0	0	1	16638	581	21	3		3	TRPM6	9	77431651	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8627	77431651	63781780	1304	6856											
PRUNE2	158471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	79320603	79320603	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtactgttgtcaccgTttatttcagaaggttcaggt	9	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:79320603T>A	ENST00000376718.3	-	8	6710	c.6587A>T	c.(6586-6588)aAc>aTc	p.N2196I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N1837I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2196					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTGTCACCGTTTATTTCAGA	0.458																																					p.N2196I		.											.	PRUNE2-157	0			c.A6587T						.						120	113	115					9																	79320603		1568	3582	5150	SO:0001583	missense	158471	exon8			TCACCGTTTATTT	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.6587A>T	9.37:g.79320603T>A	ENSP00000365908:p.Asn2196Ile	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	155	56	NM_015225	0	0	0	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.995|9.995	1.231937|1.231937	0.22626|0.22626	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46451	.|0.87;0.87	5.57|5.57	-3.38|-3.38	0.04883|0.04883	.|.	.|1.323940	.|0.04851	.|N	.|0.442329	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.14023	.|0.01	T|T	0.47086|0.47086	-0.9144|-0.9144	5|10	.|0.56958	.|D	.|0.05	-0.2142|-0.2142	7.2899|7.2899	0.26360|0.26360	0.1236:0.4812:0.0:0.3952|0.1236:0.4812:0.0:0.3952	.|.	.|2196	.|Q8WUY3	.|PRUN2_HUMAN	N|I	1517|2196;1837;2195	.|ENSP00000365908:N2196I;ENSP00000397425:N1837I	.|ENSP00000365908:N2196I	K|N	-|-	3|2	2|0	PRUNE2|PRUNE2	78510423|78510423	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.137000|0.137000	0.21094|0.21094	-0.824000|-0.824000	0.04438|0.04438	-0.143000|-0.143000	0.11334|0.11334	0.533000|0.533000	0.62120|0.62120	AAA|AAC	.		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79320603	T	A	79320603	3	1	31	1	0	0	0	0	1	0	0	0	12683	1725	60	5	2727	5	PRUNE2	9	79320603	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1888952	79320603	61892828	1305	6857											
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	82321726	82321726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcctagacaagacacGcctgctcaagaaagatgccc	10	12	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:82321726G>T	ENST00000376552.2	+	11	1866	c.848G>T	c.(847-849)cGc>cTc	p.R283L	TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Missense_Mutation_p.R258L|TLE4_ENST00000376537.4_Missense_Mutation_p.R283L|TLE4_ENST00000376520.4_Missense_Mutation_p.R283L|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	283					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						GACAAGACACGCCTGCTCAAG	0.517																																					p.R283L		.											.	TLE4-524	0			c.G848T						.						177	173	174					9																	82321726		1926	4117	6043	SO:0001583	missense	7091	exon11			AGACACGCCTGCT	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.848G>T	9.37:g.82321726G>T	ENSP00000365735:p.Arg283Leu	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	90	30	NM_007005	0	0	0	0	0	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971497|4.971497	0.92919|0.92919	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000417836|ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284	.|T;T;T;T	.|0.47869	.|0.83;0.9;0.9;0.94	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46658|0.46658	0.1404|0.1404	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.38745	.|0.018;0.252;0.645	.|B;B;B	.|0.40329	.|0.021;0.229;0.326	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.33940	.|T	.|0.23	-21.1636|-21.1636	20.2885|20.2885	0.98538|0.98538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|258;283;283	.|F8W6T6;Q04727-3;Q04727	.|.;.;TLE4_HUMAN	S|L	16|283;283;283;258	.|ENSP00000365735:R283L;ENSP00000365703:R283L;ENSP00000365720:R283L;ENSP00000265284:R258L	.|ENSP00000265284:R258L	A|R	+|+	1|2	0|0	TLE4|TLE4	81511546|81511546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.863000|7.863000	0.87023|0.87023	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GCC|CGC	.		0.517	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		T	82321726	G	T	82321726	3	4	31	1	0	0	0	0	1	0	0	0	15988	1087	38	2	890	2	TLE4	9	82321726	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3001123	82321726	58891705	1306	6858											
FLJ46321	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	84607383	84607383	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcagaaagtccttcaaggtCcatgttccgatctccatcat	7	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84607383C>A	ENST00000344803.2	+	4	2045	c.1998C>A	c.(1996-1998)gtC>gtA	p.V666V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	666					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTTCAAGGTCCATGTTCCGA	0.478																																					p.V666V		.											.	.	0			c.C1998A						.						111	108	109					9																	84607383		1872	4108	5980	SO:0001819	synonymous_variant	389763	exon4			CAAGGTCCATGTT		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.1998C>A	9.37:g.84607383C>A		Somatic	201	0		WXS	Illumina GAIIx	Phase_I	227	78	NM_001001670	0	0	0	0	0		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																			.		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84607383	C	A	84607383	2	1	31	1	0	0	0	0	0	0	0	1	5954	842	30	3		3	FLJ46321	9	84607383	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2285657	84607383	56606048	1307	6859			4	32		4	4	716	N	G_C_A	3.002945e-05
FLJ46321	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	84607770	84607770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggagacttcttcagacaaGgatctgaggtctaactctga	10	10	5	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84607770G>T	ENST00000344803.2	+	4	2432	c.2385G>T	c.(2383-2385)aaG>aaT	p.K795N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	795					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCAGACAAGGATCTGAGGT	0.458																																					p.K795N		.											.	.	0			c.G2385T						.						103	99	100					9																	84607770		1909	4112	6021	SO:0001583	missense	389763	exon4			AGACAAGGATCTG		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.2385G>T	9.37:g.84607770G>T	ENSP00000341988:p.Lys795Asn	Somatic	505	0		WXS	Illumina GAIIx	Phase_I	571	178	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.480218	0.01027	.	.	ENSG00000214929	ENST00000344803	T	0.06142	3.34	2.85	-4.69	0.03299	.	2.038600	0.01881	N	0.037848	T	0.04497	0.0123	N	0.21097	0.63	0.09310	N	1	B	0.33299	0.407	B	0.37550	0.253	T	0.26608	-1.0098	10	0.20519	T	0.43	0.3867	2.191	0.03899	0.1147:0.1459:0.2224:0.517	.	795	Q6ZQQ2	F75D1_HUMAN	N	795	ENSP00000341988:K795N	ENSP00000341988:K795N	K	+	3	2	FAM75D1	83797590	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.149000	0.10204	-1.043000	0.03258	0.462000	0.41574	AAG	.		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607770	G	T	84607770	3	4	31	1	0	0	0	0	1	0	0	0	5954	991	35	3	2399	3	FLJ46321	9	84607770	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	387	84607770	56605661	1308	6860			4	32		4	4	716	N	G_C_A	3.002945e-05
FLJ46321	389763	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	84608003	84608003	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcccacagccaaattaaacAtcgaaatctggtaacattgg	6	10	1	0	rs375918710		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84608003A>T	ENST00000344803.2	+	4	2665	c.2618A>T	c.(2617-2619)cAt>cTt	p.H873L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	873					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAATTAAACATCGAAATCTG	0.443																																					p.H873L		.											.	.	0			c.A2618T						.						107	93	97					9																	84608003		1889	4132	6021	SO:0001583	missense	389763	exon4			TTAAACATCGAAA		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.2618A>T	9.37:g.84608003A>T	ENSP00000341988:p.His873Leu	Somatic	541	2		WXS	Illumina GAIIx	Phase_I	553	150	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	7.892	0.732426	0.15507	.	.	ENSG00000214929	ENST00000344803	T	0.42131	0.98	2.86	-1.07	0.09968	.	4.374490	0.00397	N	0.000049	T	0.37265	0.0997	L	0.36672	1.1	0.09310	N	1	B	0.28713	0.22	B	0.39840	0.311	T	0.15178	-1.0446	10	0.25106	T	0.35	3.6326	2.9791	0.05947	0.4854:0.2353:0.2793:0.0	.	873	Q6ZQQ2	F75D1_HUMAN	L	873	ENSP00000341988:H873L	ENSP00000341988:H873L	H	+	2	0	FAM75D1	83797823	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.946000	0.29069	-0.202000	0.10268	-0.322000	0.08575	CAT	.		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84608003	A	T	84608003	3	4	31	1	0	0	0	0	1	0	0	0	5954	217	8	5	2632	5	FLJ46321	9	84608003	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	233	84608003	56605428	1309	6861			4	32		4	4	716	N	G_C_A	3.002945e-05
FLJ46321	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	84608098	84608098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaacaaaagatgttggaaGcccatattaaaactttccgt	6	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84608098G>T	ENST00000344803.2	+	4	2760	c.2713G>T	c.(2713-2715)Gcc>Tcc	p.A905S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	905					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GATGTTGGAAGCCCATATTAA	0.433																																					p.A905S		.											.	.	0			c.G2713T						.						55	51	52					9																	84608098		1843	4082	5925	SO:0001583	missense	389763	exon4			TTGGAAGCCCATA		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.2713G>T	9.37:g.84608098G>T	ENSP00000341988:p.Ala905Ser	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	160	65	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021571	0.19433	.	.	ENSG00000214929	ENST00000344803	T	0.46451	0.87	3.45	-2.95	0.05564	.	3.059830	0.00945	N	0.002884	T	0.48502	0.1503	M	0.79926	2.475	0.09310	N	1	P	0.40180	0.705	P	0.49140	0.601	T	0.38265	-0.9669	10	0.15952	T	0.53	-0.224	0.2861	0.00251	0.2294:0.1673:0.2639:0.3394	.	905	Q6ZQQ2	F75D1_HUMAN	S	905	ENSP00000341988:A905S	ENSP00000341988:A905S	A	+	1	0	FAM75D1	83797918	0.472000	0.25870	0.000000	0.03702	0.004000	0.04260	-0.080000	0.11339	-0.329000	0.08527	0.650000	0.86243	GCC	.		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84608098	G	T	84608098	3	4	31	1	0	0	0	0	1	0	0	0	5954	971	34	3	2727	3	FLJ46321	9	84608098	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	95	84608098	56605333	1310	6862			4	32		4	4	716	N	G_C_A	3.002945e-05
AGTPBP1	23287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	88162051	88162051	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtatgttcttgataattcAgagtcagaaagtacttcttc	8	6	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:88162051A>T	ENST00000357081.3	-	26	3798	c.3654T>A	c.(3652-3654)tcT>tcA	p.S1218S	AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.S1230S|AGTPBP1_ENST00000376083.3_Silent_p.S1178S|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1218					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTGATAATTCAGAGTCAGAAA	0.368																																					p.S1178S		.											.	AGTPBP1-158	0			c.T3534A						.						136	127	130					9																	88162051		2203	4300	6503	SO:0001819	synonymous_variant	23287	exon26			TAATTCAGAGTCA	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3654T>A	9.37:g.88162051A>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	130	45	NM_015239	0	0	0	0	0	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																				.		0.368	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88162051	A	T	88162051	2	4	31	1	0	0	0	0	0	0	0	1	400	175	7	5		5	AGTPBP1	9	88162051	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3553953	88162051	53051380	1311	6863											
DAPK1	1612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	90318057	90318057	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtttgtgtacgacgtGcaggaccagctgaaccccct	11	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:90318057G>T	ENST00000408954.3	+	25	3320	c.2985G>T	c.(2983-2985)gtG>gtT	p.V995V	DAPK1_ENST00000358077.5_Silent_p.V995V|DAPK1_ENST00000472284.1_Silent_p.V995V|DAPK1_ENST00000491893.1_Silent_p.V929V|DAPK1_ENST00000469640.2_Silent_p.V1020V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	995					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						TGTACGACGTGCAGGACCAGC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.V995V		.											.	DAPK1-359	0			c.G2985T						.						51	53	53					9																	90318057		2125	4239	6364	SO:0001819	synonymous_variant	1612	exon25	Familial Cancer Database	Familial CLL	CGACGTGCAGGAC	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.2985G>T	9.37:g.90318057G>T		Somatic	171	0		WXS	Illumina GAIIx	Phase_I	192	69	NM_004938	0	0	0	0	0	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																			.		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90318057	G	T	90318057	2	4	31	1	0	0	0	0	0	0	0	1	4244	1306	46	3		3	DAPK1	9	90318057	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2156006	90318057	50895374	1312	6864											
SYK	6850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	93637019	93637019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcccctacgcggaccccgagGagatcaggcccaaggaggtt	14	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:93637019G>C	ENST00000375754.4	+	9	1217	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	SYK_ENST00000375747.1_Missense_Mutation_p.E334Q|SYK_ENST00000375746.1_Missense_Mutation_p.E357Q|SYK_ENST00000375751.4_Missense_Mutation_p.E334Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	357	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGACCCCGAGGAGATCAGGCC	0.552			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																p.E357Q		.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK-1402	0			c.G1069C						.						148	162	157					9																	93637019		2203	4300	6503	SO:0001583	missense	6850	exon9			CCCGAGGAGATCA	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1069G>C	9.37:g.93637019G>C	ENSP00000364907:p.Glu357Gln	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	108	52	NM_003177	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345720	0.82022	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.73469	-0.75;-0.74;-0.74;-0.75	4.15	4.15	0.48705	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	D	0.86952	0.2086	10	0.62326	D	0.03	.	16.9871	0.86342	0.0:0.0:1.0:0.0	.	334;357	P43405-2;P43405	.;KSYK_HUMAN	Q	357;334;334;357	ENSP00000364907:E357Q;ENSP00000364904:E334Q;ENSP00000364899:E334Q;ENSP00000364898:E357Q	ENSP00000364898:E357Q	E	+	1	0	SYK	92676840	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	9.037000	0.93765	2.317000	0.78254	0.561000	0.74099	GAG	.		0.552	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			C	93637019	G	C	93637019	3	2	31	1	0	0	0	0	1	0	0	0	15485	1175	41	3	1099	3	SYK	9	93637019	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3318962	93637019	47576412	1313	6865											
NOL8	55035	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	95076909	95076909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaataggattcttacttctCttttcagaactgctagggga	9	7	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95076909C>G	ENST00000535387.1	-	6	1997	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	NOL8_ENST00000545558.1_Missense_Mutation_p.K666N|NOL8_ENST00000358855.4_Missense_Mutation_p.K598N|NOL8_ENST00000442668.2_Missense_Mutation_p.K666N|NOL8_ENST00000542053.1_Missense_Mutation_p.K598N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTACTTCTCTTTTCAGAAC	0.428																																					p.K666N		.											.	NOL8-23	0			c.G1998C						.						42	38	39					9																	95076909		1885	4107	5992	SO:0001583	missense	55035	exon7			ACTTCTCTTTTCA	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1998G>C	9.37:g.95076909C>G	ENSP00000441300:p.Lys666Asn	Somatic	142	2		WXS	Illumina GAIIx	Phase_I	166	47	NM_017948	0	0	0	0	0		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	0.672	-0.801640	0.02841	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	4.95	-5.61	0.02489	.	1.225170	0.05355	N	0.532698	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	10	0.46703	T	0.11	-0.0515	0.3331	0.00322	0.2586:0.2423:0.1569:0.3421	.	666	Q76FK4	NOL8_HUMAN	N	666;668;598;666;666;598;666	ENSP00000401177:K666N;ENSP00000351723:K598N;ENSP00000441140:K666N;ENSP00000441300:K666N;ENSP00000440709:K598N;ENSP00000414112:K666N	ENSP00000351723:K598N	K	-	3	2	NOL8	94116730	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.185000	0.03073	-1.303000	0.02332	-1.268000	0.01426	AAG	.		0.428	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		G	95076909	C	G	95076909	3	3	31	1	0	0	0	0	1	0	0	0	10566	912	32	3	1549	3	NOL8	9	95076909	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1439890	95076909	46136522	1314	6866											
NOL8	55035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	95077071	95077071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggggacccatcttccatGgatatgatactgggatcctc	10	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95077071G>A	ENST00000535387.1	-	6	1835	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	NOL8_ENST00000545558.1_Silent_p.S612S|NOL8_ENST00000358855.4_Silent_p.S544S|NOL8_ENST00000442668.2_Silent_p.S612S|NOL8_ENST00000542053.1_Silent_p.S544S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CATCTTCCATGGATATGATAC	0.398																																					p.S612S		.											.	NOL8-23	0			c.C1836T						.						82	72	75					9																	95077071		1894	4125	6019	SO:0001819	synonymous_variant	55035	exon7			TTCCATGGATATG	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1836C>T	9.37:g.95077071G>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	52	25	NM_017948	0	0	0	0	0		Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																			.		0.398	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		A	95077071	G	A	95077071	2	1	31	1	0	0	0	0	0	0	0	1	10566	1335	47	3		3	NOL8	9	95077071	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	162	95077071	46136360	1315	6867											
ECM2	1842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	95263198	95263199	+	Missense_Mutation	DNP	GG	GG	TT													ggtacaagtattccaggcctGgttccatgtggccaaacaca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95263198_95263199GG>TT	ENST00000344604.5	-	9	1890_1891	c.1741_1742CC>AA	c.(1741-1743)CCa>AAa	p.P581K	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.P559K	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	581					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						TTCCAGGCCTGGTTCCATGTGG	0.475																																					p.P581Q|p.P581T		.											.	ECM2-131	0			c.C1742A|c.C1741A						.																																			SO:0001583	missense	1842	exon9			AGGCCTGGTTCCA|GGCCTGGTTCCAT	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.1741_1742delinsTT	9.37:g.95263198_95263199delinsTT	ENSP00000344758:p.Pro581Lys	Somatic	231|227	0|1		WXS	Illumina GAIIx	Phase_I	215|219	58|60	NM_001393	0	0	0	0	0	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1																																																																																			.		0.475	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		TT	95263199	GG	TT	95263198	3	4	31	1	0	0	0	0	1	0	0	0	4912	1348	47	3	365	3	ECM2	9	95263198	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	186127	95263198	45950233	1316	6868											
FAM22G	441457	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	99694487	99694487	+	Frame_Shift_Del	DEL	C	C	-													accaccggctgcccaggtggCccccatcgtgtccccaggga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:99694487delC	ENST00000372322.3	+	2	521	c.500delC	c.(499-501)gccfs	p.A167fs	NUTM2G_ENST00000354649.3_Frame_Shift_Del_p.A167fs|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	167																	GCCCAGGTGGCCCCCATCGTG	0.706																																					p.A167fs		.											.	FAM22G-69	0			c.500delC						.						43	46	45					9																	99694487		1909	4094	6003	SO:0001589	frameshift_variant	441457	exon2			AGGTGGCCCCCAT		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.500delC	9.37:g.99694487delC	ENSP00000361397:p.Ala167fs	Somatic	392	0		WXS	Illumina GAIIx	Phase_I	713	165	NM_001045477	0	0	0	0	0	A6NNI5|Q5VZR3	Frame_Shift_Del	DEL	ENST00000372322.3	37	CCDS55329.1																																																																																			.		0.706	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		-	99694487	C	-	99694487	7	5	31	1	0	1	0	1	0	0	0	0	5565	739	26	0	506	0	FAM22G	9	99694487	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	4431289	99694487	41518944	1317	6869											
KIAA1529	100499483	broad.mit.edu;bcgsc.ca	37	chr9	100122323	100122323	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaaggaaaaactgagccaGaggattcagtaccttaactg	11	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:100122323G>T	ENST00000357054.1	+	37	4403	c.3468G>T	c.(3466-3468)caG>caT	p.Q1156H	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.Q1185H|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.Q1185H			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1156						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AACTGAGCCAGAGGATTCAGT	0.517																																					p.Q1185H		.											.	.	0			c.G3555T						.						140	136	137					9																	100122323		2203	4300	6503	SO:0001583	missense	0	exon26			GAGCCAGAGGATT	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3468G>T	9.37:g.100122323G>T	ENSP00000349562:p.Gln1156His	Somatic	220	1		WXS	Illumina GAIIx	Phase_I	258	90	NM_020893	0	0	0	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	17.43	3.387993	0.61956	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.09163	3.05;3.01;3.01	5.71	1.29	0.21616	.	0.712033	0.13308	N	0.397717	T	0.18425	0.0442	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.59056	0.718;0.851	T	0.11299	-1.0593	10	0.72032	D	0.01	-6.2915	3.8275	0.08861	0.3198:0.1792:0.501:0.0	.	1324;1156	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	1156;1185;1185	ENSP00000349562:Q1156H;ENSP00000364348:Q1185H;ENSP00000434727:Q1185H	ENSP00000349562:Q1156H	Q	+	3	2	C9orf174	99162144	0.979000	0.34478	0.980000	0.43619	0.974000	0.67602	0.705000	0.25675	0.446000	0.26666	0.561000	0.74099	CAG	.		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		T	100122323	G	T	100122323	3	4	31	1	0	0	0	0	1	0	0	0	8267	933	33	3	3570	3	KIAA1529	9	100122323	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	427836	100122323	41091108	1318	6870											
HEMGN	55363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	100693484	100693484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcctgttctctgctGcttgcgttttttctgttctc	6	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:100693484G>T	ENST00000259456.3	-	4	336	c.193C>A	c.(193-195)Cag>Aag	p.Q65K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	65	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTGCTGCTTGCGTTTT	0.423																																					p.Q65K		.											.	HEMGN-91	0			c.C193A						.						110	112	111					9																	100693484		2203	4299	6502	SO:0001583	missense	55363	exon3			TCTGCTGCTTGCG	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.193C>A	9.37:g.100693484G>T	ENSP00000259456:p.Gln65Lys	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	27	6	NM_197978	0	0	0	0	0	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.404314	0.01165	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.99	-6.53	0.01866	.	0.672820	0.14499	N	0.315899	T	0.13457	0.0326	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.38824	-0.9643	9	0.02654	T	1	15.2675	5.0314	0.14411	0.4926:0.0:0.1855:0.3219	.	65	Q9BXL5	HEMGN_HUMAN	K	65	.	ENSP00000259456:Q65K	Q	-	1	0	HEMGN	99733305	0.013000	0.17824	0.000000	0.03702	0.182000	0.23217	-0.205000	0.09411	-1.607000	0.01589	-0.469000	0.05056	CAG	.		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100693484	G	T	100693484	3	4	31	1	0	0	0	0	1	0	0	0	7077	1328	46	3	1269	3	HEMGN	9	100693484	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	571161	100693484	40519947	1319	6871											
COL15A1	1306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	101749611	101749611	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgtgcaccccgacccCaggactcccgaggagctgtg	11	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:101749611C>A	ENST00000375001.3	+	4	1107	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	228	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCCCGACCCCAGGACTCCCG	0.637																																					p.P228P		.											.	COL15A1-96	0			c.C684A						.						145	139	141					9																	101749611		2203	4300	6503	SO:0001819	synonymous_variant	1306	exon4			CGACCCCAGGACT	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.684C>A	9.37:g.101749611C>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	80	30	NM_001855	0	0	0	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																			.		0.637	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101749611	C	A	101749611	2	1	31	1	0	0	0	0	0	0	0	1	3679	581	21	3		3	COL15A1	9	101749611	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1056127	101749611	39463820	1320	6872											
COL15A1	1306	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	101765834	101765834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggaccaaccctctctAtgtccacggagaacccagag	11	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:101765834A>G	ENST00000375001.3	+	8	1588	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	389	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			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)				AACCCTCTCTATGTCCACGGA	0.612																																					p.M389V		.											.	COL15A1-96	0			c.A1165G						.						62	66	64					9																	101765834		2203	4300	6503	SO:0001583	missense	1306	exon8			CTCTCTATGTCCA	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.1165A>G	9.37:g.101765834A>G	ENSP00000364140:p.Met389Val	Somatic	260	1		WXS	Illumina GAIIx	Phase_I	266	91	NM_001855	0	0	0	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	2.112	-0.403465	0.04832	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90197	-2.63	3.77	-4.79	0.03200	.	2.774870	0.01804	N	0.033084	T	0.81113	0.4755	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66106	-0.6006	10	0.27785	T	0.31	0.026	2.188	0.03892	0.4265:0.1253:0.3247:0.1236	.	389	P39059	COFA1_HUMAN	V	389;359	ENSP00000364140:M389V	ENSP00000364140:M389V	M	+	1	0	COL15A1	100805655	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.525000	0.02231	-1.528000	0.01756	-1.447000	0.01057	ATG	.		0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		G	101765834	A	G	101765834	3	3	31	1	0	0	0	0	1	0	0	0	3679	449	16	4	1195	4	COL15A1	9	101765834	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	16223	101765834	39447597	1321	6873											
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	104390541	104390541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaggttgacactcacttcAgatactccactccatcaggg	8	12	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104390541A>T	ENST00000361820.3	-	4	3095	c.2495T>A	c.(2494-2496)cTg>cAg	p.L832Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	832					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACTCACTTCAGATACTCCAC	0.398																																					p.L832Q		.											.	GRIN3A-96	0			c.T2495A						.						119	109	112					9																	104390541		2203	4300	6503	SO:0001583	missense	116443	exon4			CACTTCAGATACT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2495T>A	9.37:g.104390541A>T	ENSP00000355155:p.Leu832Gln	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994263	0.74703	.	.	ENSG00000198785	ENST00000361820	T	0.55234	0.53	5.76	5.76	0.90799	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.082312	0.49305	D	0.000145	T	0.75997	0.3926	M	0.85197	2.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.80432	-0.1385	10	0.87932	D	0	.	16.0711	0.80936	1.0:0.0:0.0:0.0	.	832	Q8TCU5	NMD3A_HUMAN	Q	832	ENSP00000355155:L832Q	ENSP00000355155:L832Q	L	-	2	0	GRIN3A	103430362	1.000000	0.71417	0.831000	0.32960	0.767000	0.43475	8.962000	0.93254	2.197000	0.70478	0.482000	0.46254	CTG	.		0.398	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104390541	A	T	104390541	3	4	31	1	0	0	0	0	1	0	0	0	6810	188	7	5	876	5	GRIN3A	9	104390541	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2624707	104390541	36822890	1322	6874											
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	104432880	104432880	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccatttttccatgctccaTactttccatcccctacaata	2	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104432880T>A	ENST00000361820.3	-	3	2414	c.1814A>T	c.(1813-1815)tAt>tTt	p.Y605F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	605					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATGCTCCATACTTTCCATC	0.468																																					p.Y605F		.											.	GRIN3A-96	0			c.A1814T						.						99	83	89					9																	104432880		2203	4300	6503	SO:0001583	missense	116443	exon3			GCTCCATACTTTC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1814A>T	9.37:g.104432880T>A	ENSP00000355155:p.Tyr605Phe	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	108	33	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356894	0.82243	.	.	ENSG00000198785	ENST00000361820	T	0.14893	2.47	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.47190	1.495	0.58432	D	0.999999	D	0.63880	0.993	D	0.69307	0.963	T	0.01675	-1.1298	10	0.22706	T	0.39	.	16.3625	0.83273	0.0:0.0:0.0:1.0	.	605	Q8TCU5	NMD3A_HUMAN	F	605	ENSP00000355155:Y605F	ENSP00000355155:Y605F	Y	-	2	0	GRIN3A	103472701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.246000	0.72405	2.319000	0.78375	0.524000	0.50904	TAT	.		0.468	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104432880	T	A	104432880	3	1	31	1	0	0	0	0	1	0	0	0	6810	1406	49	5	1561	5	GRIN3A	9	104432880	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	42339	104432880	36780551	1323	6875											
GRIN3A	116443	broad.mit.edu;mdanderson.org	37	chr9	104499917	104499917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcctccgccctggcgccCtccccgggcttacgggagcc	14	19	0	0	rs538822263		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104499917C>A	ENST00000361820.3	-	1	945	c.345G>T	c.(343-345)gaG>gaT	p.E115D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	115					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCCTGGCGCCCTCCCCGGGCT	0.726																																					p.E115D		.											.	GRIN3A-96	0			c.G345T						.						15	17	17					9																	104499917		2200	4293	6493	SO:0001583	missense	116443	exon1			GGCGCCCTCCCCG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.345G>T	9.37:g.104499917C>A	ENSP00000355155:p.Glu115Asp	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	47	15	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	2.863	-0.235721	0.05944	.	.	ENSG00000198785	ENST00000361820	T	0.11277	2.79	5.12	2.27	0.28462	.	0.402275	0.20758	N	0.086215	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.12766	T	0.61	.	3.2127	0.06689	0.1141:0.544:0.1234:0.2185	.	115	Q8TCU5	NMD3A_HUMAN	D	115	ENSP00000355155:E115D	ENSP00000355155:E115D	E	-	3	2	GRIN3A	103539738	0.005000	0.15991	0.956000	0.39512	0.006000	0.05464	0.864000	0.27926	0.578000	0.29487	-0.749000	0.03505	GAG	.		0.726	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104499917	C	A	104499917	3	1	31	1	0	0	0	0	1	0	0	0	6810	680	24	3	3038	3	GRIN3A	9	104499917	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	67037	104499917	36713514	1324	6876											
OR13C8	138802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	107331611	107331611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatctttgattctcacCtgcacacccccatgtatttc	3	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:107331611C>A	ENST00000335040.1	+	1	163	c.163C>A	c.(163-165)Ctg>Atg	p.L55M		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGATTCTCACCTGCACACCCC	0.433																																					p.L55M		.											.	OR13C8-70	0			c.C163A						.						336	311	319					9																	107331611		2203	4300	6503	SO:0001583	missense	138802	exon1			TCTCACCTGCACA		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.163C>A	9.37:g.107331611C>A	ENSP00000334068:p.Leu55Met	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	96	30	NM_001004483	0	0	0	0	0	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136464	0.56936	.	.	ENSG00000186943	ENST00000335040	T	0.02067	4.47	4.97	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000452	T	0.15565	0.0375	H	0.97440	4.005	0.34217	D	0.674923	D	0.59357	0.985	P	0.61940	0.896	T	0.15723	-1.0427	10	0.87932	D	0	.	7.1319	0.25507	0.0:0.691:0.1803:0.1287	.	55	Q8NGS7	O13C8_HUMAN	M	55	ENSP00000334068:L55M	ENSP00000334068:L55M	L	+	1	2	OR13C8	106371432	0.308000	0.24509	0.991000	0.47740	0.964000	0.63967	1.514000	0.35834	0.281000	0.22233	-0.127000	0.14921	CTG	.		0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			A	107331611	C	A	107331611	3	1	31	1	0	0	0	0	1	0	0	0	10977	680	24	3	165	3	OR13C8	9	107331611	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2831694	107331611	33881820	1325	6877											
ZNF462	58499	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	109746465	109746465	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccattcaatttgtttccacAgaagagcgtgttgtccccat	7	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:109746465A>T	ENST00000277225.5	+	10	7121		c.e10-1		RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Splice_Site|ZNF462_ENST00000441147.2_Splice_Site|ZNF462_ENST00000542028.1_Splice_Site			Q96JM2	ZN462_HUMAN	zinc finger protein 462						chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGTTTCCACAGAAGAGCGTG	0.428																																					.		.											.	ZNF462-95	0			c.6833-2A>T						.						76	74	75					9																	109746465		2203	4300	6503	SO:0001630	splice_region_variant	58499	exon10			TTCCACAGAAGAG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6833-1A>T	9.37:g.109746465A>T		Somatic	71	1		WXS	Illumina GAIIx	Phase_I	99	33	NM_021224	0	0	0	0	0	Q5T0T4|Q8N408	Splice_Site	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260841	0.80246	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9057	0.79427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF462	108786286	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.857000	0.92250	2.138000	0.66242	0.533000	0.62120	.	.		0.428	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	Intron	T	109746465	A	T	109746465	5	4	31	1	0	0	0	0	0	0	1	0	17974	202	7	5	6865	5	ZNF462	9	109746465	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2414854	109746465	31466966	1326	6878											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113169869	113169869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacagaaagtttgatgaatGtgtagcaggagactcctttg	11	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113169869G>T	ENST00000401783.2	-	38	8347	c.8011C>A	c.(8011-8013)Cat>Aat	p.H2671N	SVEP1_ENST00000374469.1_Missense_Mutation_p.H2648N|SVEP1_ENST00000297826.5_Missense_Mutation_p.H597N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2671	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTGATGAATGTGTAGCAGGA	0.453																																					p.H2671N		.											.	SVEP1-75	0			c.C8011A						.						189	186	187					9																	113169869		1898	4122	6020	SO:0001583	missense	79987	exon38			ATGAATGTGTAGC	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.8011C>A	9.37:g.113169869G>T	ENSP00000384917:p.His2671Asn	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	116	35	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.279841	0.01410	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.23348	1.91;1.91;1.91	5.77	5.77	0.91146	Complement control module (2);Sushi/SCR/CCP (3);	0.453907	0.26029	N	0.026772	T	0.25531	0.0621	L	0.37697	1.125	0.80722	D	1	B	0.25007	0.116	B	0.28011	0.085	T	0.03993	-1.0986	10	0.20519	T	0.43	.	19.9764	0.97312	0.0:0.0:1.0:0.0	.	2671	Q4LDE5	SVEP1_HUMAN	N	2671;2648;597;343	ENSP00000384917:H2671N;ENSP00000363593:H2648N;ENSP00000297826:H597N	ENSP00000297826:H597N	H	-	1	0	SVEP1	112209690	0.997000	0.39634	0.024000	0.17045	0.026000	0.11368	6.352000	0.73027	2.727000	0.93392	0.585000	0.79938	CAT	.		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113169869	G	T	113169869	3	4	31	1	0	0	0	0	1	0	0	0	15467	1377	48	3	2748	3	SVEP1	9	113169869	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3423404	113169869	28043562	1327	6879											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113265477	113265477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggccatgtttcggctggcGgagatgaggacatgttctta	15	7	1	2	rs200840190		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113265477G>T	ENST00000401783.2	-	6	1660	c.1324C>A	c.(1324-1326)Cgc>Agc	p.R442S	SVEP1_ENST00000374469.1_Missense_Mutation_p.R419S|SVEP1_ENST00000302728.8_Missense_Mutation_p.R442S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.R419S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	442	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCGGCTGGCGGAGATGAGGA	0.378																																					p.R442S		.											.	SVEP1-75	0			c.C1324A						.						129	126	127					9																	113265477		1962	4138	6100	SO:0001583	missense	79987	exon6			GCTGGCGGAGATG	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.1324C>A	9.37:g.113265477G>T	ENSP00000384917:p.Arg442Ser	Somatic	209	0		WXS	Illumina GAIIx	Phase_I	251	85	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778797	0.31502	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.341445	0.32819	N	0.005618	T	0.37679	0.1012	N	0.05306	-0.075	0.30182	N	0.800354	B;B;B	0.17465	0.022;0.022;0.018	B;B;B	0.15484	0.013;0.008;0.004	T	0.27872	-1.0061	10	0.23302	T	0.38	.	9.5424	0.39260	0.0806:0.1461:0.7734:0.0	.	442;442;442	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	442;419;442;419	ENSP00000384917:R442S;ENSP00000363593:R419S;ENSP00000304118:R442S;ENSP00000363585:R419S	ENSP00000304118:R442S	R	-	1	0	SVEP1	112305298	0.992000	0.36948	1.000000	0.80357	0.847000	0.48162	2.393000	0.44442	2.687000	0.91594	0.655000	0.94253	CGC	G|0.999;A|0.001		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113265477	G	T	113265477	3	4	31	1	0	0	0	0	1	0	0	0	15467	1116	39	2	9563	2	SVEP1	9	113265477	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	95608	113265477	27947954	1328	6880											
MUSK	4593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113547978	113547978	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatcggagagggagcgttTggaagggtgtttcaagcaag	17	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113547978T>A	ENST00000374448.4	+	13	1892	c.1758T>A	c.(1756-1758)ttT>ttA	p.F586L	MUSK_ENST00000416899.2_Missense_Mutation_p.F578L|MUSK_ENST00000189978.5_Missense_Mutation_p.F586L|MUSK_ENST00000374438.1_Missense_Mutation_p.F102L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGGAGCGTTTGGAAGGGTGT	0.408																																					p.F586L		.											.	MUSK-1379	0			c.T1758A						.						93	88	89					9																	113547978		1852	4104	5956	SO:0001583	missense	4593	exon12			AGCGTTTGGAAGG	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.1758T>A	9.37:g.113547978T>A	ENSP00000363571:p.Phe586Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	141	68	NM_005592	0	0	0	0	0	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443565	0.83993	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	D;D	0.89196	-2.48;-2.48	5.86	4.73	0.59995	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	0.94443	0.8212	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94216	0.7463	10	0.62326	D	0.03	.	11.1371	0.48381	0.0:0.0717:0.0:0.9283	.	586	O15146	MUSK_HUMAN	L	592;586;586;500;500;102;584;102	ENSP00000363571:F586L;ENSP00000363561:F102L	ENSP00000189978:F592L	F	+	3	2	MUSK	112587799	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.596000	0.36718	1.053000	0.40415	0.533000	0.62120	TTT	.		0.408	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113547978	T	A	113547978	3	1	31	1	0	0	0	0	1	0	0	0	10027	1809	63	5	1840	5	MUSK	9	113547978	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	282501	113547978	27665453	1329	6881											
FKBP15	23307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	115969505	115969505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttactatcgatatgcatGgactgctgttgcgaccagta	10	9	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:115969505G>A	ENST00000238256.3	-	3	358	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	81	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CGATATGCATGGACTGCTGTT	0.458																																					p.H81Y		.											.	FKBP15-25	0			c.C241T						.						378	390	386					9																	115969505		2116	4235	6351	SO:0001583	missense	23307	exon3			ATGCATGGACTGC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.241C>T	9.37:g.115969505G>A	ENSP00000238256:p.His81Tyr	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	191	83	NM_015258	0	0	0	0	0	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221189	0.58560	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.41065	1.01;1.01;1.01	6.04	5.15	0.70609	.	.	.	.	.	T	0.43567	0.1253	M	0.66939	2.045	0.46149	D	0.998896	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.11329	0.006;0.006;0.003	T	0.41106	-0.9527	9	0.87932	D	0	-8.7419	12.9139	0.58195	0.0777:0.0:0.9223:0.0	.	81;81;81	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	Y	106;81;106	ENSP00000416158:H106Y;ENSP00000238256:H81Y;ENSP00000415733:H106Y	ENSP00000238256:H81Y	H	-	1	0	FKBP15	115009326	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	5.069000	0.64370	1.572000	0.49736	0.563000	0.77884	CAT	.		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		A	115969505	G	A	115969505	3	1	31	1	0	0	0	0	1	0	0	0	5927	1348	47	3	3522	3	FKBP15	9	115969505	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2421527	115969505	25243926	1330	6882											
ALAD	210	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	116151361	116151361	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaactctccagagacgtggTacacggcgagagggaggtca	14	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:116151361T>A	ENST00000409155.3	-	11	1023	c.827A>T	c.(826-828)tAc>tTc	p.Y276F	ALAD_ENST00000277315.5_Missense_Mutation_p.Y259F|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	276					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	AGAGACGTGGTACACGGCGAG	0.622																																					p.Y276F		.											.	ALAD-90	0			c.A827T						.						43	38	40					9																	116151361		2203	4300	6503	SO:0001583	missense	210	exon11			ACGTGGTACACGG	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.827A>T	9.37:g.116151361T>A	ENSP00000386284:p.Tyr276Phe	Somatic	231	2		WXS	Illumina GAIIx	Phase_I	257	102	NM_000031	0	0	0	0	0	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048717	0.93740	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.92495	-3.05;-3.05	5.7	5.7	0.88788	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	H	0.96111	3.77	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	0.98516	1.0621	10	0.87932	D	0	-13.591	14.8005	0.69913	0.0:0.0:0.0:1.0	.	276;259;305	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	F	276;259	ENSP00000386284:Y276F;ENSP00000277315:Y259F	ENSP00000277315:Y259F	Y	-	2	0	ALAD	115191182	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.419000	0.80179	2.172000	0.68678	0.533000	0.62120	TAC	.		0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		A	116151361	T	A	116151361	3	1	31	1	0	0	0	0	1	0	0	0	483	1638	57	5	173	5	ALAD	9	116151361	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	181856	116151361	25062070	1331	6883											
C9orf43	257169	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	116176080	116176080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagacatcttagattccGgctttgcagctcatcattta	8	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:116176080G>A	ENST00000288462.4	+	3	639	c.193G>A	c.(193-195)Ggc>Agc	p.G65S	C9orf43_ENST00000374165.1_Missense_Mutation_p.G65S|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	65								p.G65C(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTTAGATTCCGGCTTTGCAGC	0.428																																					p.G65S		.											.	C9orf43-90	1	Substitution - Missense(1)	lung(1)	c.G193A						.						107	99	101					9																	116176080		2203	4300	6503	SO:0001583	missense	257169	exon3			GATTCCGGCTTTG	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.193G>A	9.37:g.116176080G>A	ENSP00000288462:p.Gly65Ser	Somatic	113	2		WXS	Illumina GAIIx	Phase_I	95	33	NM_152786	0	0	0	0	0		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320199	0.05386	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.39056	1.1;1.1	5.65	3.25	0.37280	.	0.965595	0.08556	N	0.928311	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22347	-1.0219	10	0.52906	T	0.07	0.2436	6.6734	0.23080	0.152:0.0:0.1608:0.6872	.	65	Q8TAL5	CI043_HUMAN	S	65	ENSP00000363280:G65S;ENSP00000288462:G65S	ENSP00000288462:G65S	G	+	1	0	C9orf43	115215901	0.259000	0.24043	0.281000	0.24762	0.004000	0.04260	1.396000	0.34531	0.473000	0.27368	-0.375000	0.07067	GGC	.		0.428	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		A	116176080	G	A	116176080	3	1	31	1	0	0	0	0	1	0	0	0	2490	1116	39	1	199	1	C9orf43	9	116176080	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24719	116176080	25037351	1332	6884											
COL27A1	85301	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	117070019	117070019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctgcaacttcactcaTggtggacagacgtgtctcaa	9	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:117070019T>C	ENST00000356083.3	+	59	5569	c.5178T>C	c.(5176-5178)caT>caC	p.H1726H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1726	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)			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						ACTTCACTCATGGTGGACAGA	0.597																																					p.H1726H		.											.	COL27A1-94	0			c.T5178C						.						225	167	187					9																	117070019		2203	4300	6503	SO:0001819	synonymous_variant	85301	exon59			CACTCATGGTGGA	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.5178T>C	9.37:g.117070019T>C		Somatic	191	1		WXS	Illumina GAIIx	Phase_I	259	85	NM_032888	0	0	0	0	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			.		0.597	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		C	117070019	T	C	117070019	2	2	31	1	0	0	0	0	0	0	0	1	3692	1461	51	4		4	COL27A1	9	117070019	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	893939	117070019	24143412	1333	6885											
AKNA	80709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117143414	117143414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcccactccaggggcGgcaggtgctgctgggccagg	19	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:117143414G>A	ENST00000307564.4	-	2	361	c.200C>T	c.(199-201)cCg>cTg	p.P67L	AKNA_ENST00000312033.3_Missense_Mutation_p.P67L|AKNA_ENST00000374088.3_Missense_Mutation_p.P67L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	67					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						CTCCAGGGGCGGCAGGTGCTG	0.607																																					p.P67L		.											.	AKNA-94	0			c.C200T						.						56	49	51					9																	117143414		2203	4300	6503	SO:0001583	missense	80709	exon2			AGGGGCGGCAGGT	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.200C>T	9.37:g.117143414G>A	ENSP00000303769:p.Pro67Leu	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	114	51	NM_030767	0	0	0	0	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769051	0.02974	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000312033;ENST00000394574	T;T;T	0.31247	2.73;2.73;1.5	4.0	-3.75	0.04372	.	0.672421	0.12462	N	0.466766	T	0.12220	0.0297	N	0.24115	0.695	0.09310	N	1	B;B	0.18166	0.026;0.005	B;B	0.10450	0.005;0.002	T	0.37361	-0.9709	10	0.02654	T	1	-0.2748	4.7063	0.12851	0.4418:0.0:0.3664:0.1918	.	67;67	Q7Z591-6;Q7Z591	.;AKNA_HUMAN	L	67	ENSP00000303769:P67L;ENSP00000363201:P67L;ENSP00000309222:P67L	ENSP00000303769:P67L	P	-	2	0	AKNA	116183235	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.003000	0.03682	-0.762000	0.04664	-0.367000	0.07326	CCG	.		0.607	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117143414	G	A	117143414	3	1	31	1	0	0	0	0	1	0	0	0	463	1116	39	1	4203	1	AKNA	9	117143414	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	73395	117143414	24070017	1334	6886											
PAPPA	5069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	118949703	118949703	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgggtggcatattcaGcccactgacccagaagtgca	11	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:118949703G>C	ENST00000328252.3	+	2	1055	c.686G>C	c.(685-687)aGc>aCc	p.S229T	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	229					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCATATTCAGCCCACTGACC	0.552																																					p.S229T		.											.	PAPPA-77	0			c.G686C						.						67	62	63					9																	118949703		2203	4300	6503	SO:0001583	missense	5069	exon2			TATTCAGCCCACT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.686G>C	9.37:g.118949703G>C	ENSP00000330658:p.Ser229Thr	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	93	12	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677503	0.68042	.	.	ENSG00000182752	ENST00000328252	T	0.02709	4.19	6.07	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.036172	0.85682	D	0.000000	T	0.17534	0.0421	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.01212	-1.1417	10	0.59425	D	0.04	-27.9556	16.7338	0.85442	0.0:0.0:0.8696:0.1303	.	229	Q13219	PAPP1_HUMAN	T	229	ENSP00000330658:S229T	ENSP00000330658:S229T	S	+	2	0	PAPPA	117989524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.836000	0.86788	1.553000	0.49476	0.655000	0.94253	AGC	.		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		C	118949703	G	C	118949703	3	2	31	1	0	0	0	0	1	0	0	0	11471	971	34	3	692	3	PAPPA	9	118949703	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1806289	118949703	22263728	1335	6887											
PAPPA	5069	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	118997834	118997834	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctacagtgtaagcccCtgaagtataaggtggtccgg	12	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:118997834C>G	ENST00000328252.3	+	7	3019	c.2650C>G	c.(2650-2652)Ctg>Gtg	p.L884V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	884					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGTAAGCCCCTGAAGTATAA	0.507																																					p.L884V		.											.	PAPPA-77	0			c.C2650G						.						95	79	84					9																	118997834		2203	4300	6503	SO:0001583	missense	5069	exon7			AAGCCCCTGAAGT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2650C>G	9.37:g.118997834C>G	ENSP00000330658:p.Leu884Val	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	142	43	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	0.930	-0.712902	0.03206	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.40756	1.02	6.03	0.89	0.19218	.	0.189919	0.46442	D	0.000285	T	0.17789	0.0427	N	0.19112	0.55	0.80722	D	1	B;B	0.28378	0.204;0.209	B;B	0.29353	0.101;0.038	T	0.09292	-1.0681	10	0.07482	T	0.82	-12.0418	1.0409	0.01559	0.2008:0.3877:0.106:0.3054	.	328;884	E7EMD3;Q13219	.;PAPP1_HUMAN	V	884;328	ENSP00000330658:L884V	ENSP00000330658:L884V	L	+	1	2	PAPPA	118037655	0.058000	0.20735	0.734000	0.30879	0.313000	0.28021	0.490000	0.22403	0.157000	0.19338	0.655000	0.94253	CTG	.		0.507	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	118997834	C	G	118997834	3	3	31	1	0	0	0	0	1	0	0	0	11471	680	24	3	2676	3	PAPPA	9	118997834	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	48131	118997834	22215597	1336	6888											
PAPPA	5069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	119097159	119097159	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccatgtcctgagctgCaggaacaatcccctgattat	9	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:119097159C>A	ENST00000328252.3	+	13	3786	c.3417C>A	c.(3415-3417)tgC>tgA	p.C1139*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C177*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1139					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCTGAGCTGCAGGAACAATC	0.632																																					p.C1139X		.											.	PAPPA-77	0			c.C3417A						.						64	55	58					9																	119097159		2203	4300	6503	SO:0001587	stop_gained	5069	exon13			GAGCTGCAGGAAC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3417C>A	9.37:g.119097159C>A	ENSP00000330658:p.Cys1139*	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	129	27	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	46	12.153291	0.99641	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.3188	19.7459	0.96252	0.0:1.0:0.0:0.0	.	.	.	.	X	1139;177	.	ENSP00000330658:C1139X	C	+	3	2	PAPPA	118136980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.627000	0.61276	2.669000	0.90835	0.655000	0.94253	TGC	.		0.632	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	119097159	C	A	119097159	4	1	31	1	0	0	0	0	0	1	0	0	11471	718	25	3	3467	3	PAPPA	9	119097159	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	99325	119097159	22116272	1337	6889											
ASTN2	23245	ucsc.edu;bcgsc.ca	37	chr9	120053671	120053671	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagggctcctggagagtgggGgcggtggcttgggccagctg	22	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:120053671G>C	ENST00000313400.4	-	2	664	c.564C>G	c.(562-564)gcC>gcG	p.A188A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.A188A|ASTN2_ENST00000373996.3_Silent_p.A188A			O75129	ASTN2_HUMAN	astrotactin 2	188					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGAGAGTGGGGGCGGTGGCTT	0.607																																					p.A188A		.											.	ASTN2-161	0			c.C564G						.						59	60	59					9																	120053671		2203	4300	6503	SO:0001819	synonymous_variant	23245	exon2			AGTGGGGGCGGTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.564C>G	9.37:g.120053671G>C		Somatic	224	3		WXS	Illumina GAIIx	Phase_I	259	94	NM_014010	0	0	0	0	0	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				.		0.607	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		C	120053671	G	C	120053671	2	2	31	1	0	0	0	0	0	0	0	1	1066	1219	43	3		3	ASTN2	9	120053671	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	956512	120053671	21159760	1338	6890											
TLR4	7099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	120475502	120475502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccaacaaaggtgggaatGctttttcagaagttgatcta	9	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:120475502G>C	ENST00000355622.6	+	3	1197	c.1096G>C	c.(1096-1098)Gct>Cct	p.A366P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A326P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	366					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGGTGGGAATGCTTTTTCAGA	0.373																																					p.A366P		.											.	TLR4-577	0			c.G1096C						.						55	59	58					9																	120475502		2203	4300	6503	SO:0001583	missense	7099	exon3			GGGAATGCTTTTT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1096G>C	9.37:g.120475502G>C	ENSP00000363089:p.Ala366Pro	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	128	35	NM_138554	0	0	0	0	0	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077647	0.20227	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.21734	1.99;1.99	5.71	-0.671	0.11381	.	0.926584	0.09217	N	0.832373	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35798	-0.9774	10	0.27082	T	0.32	.	1.8502	0.03167	0.4267:0.2191:0.248:0.1062	.	366	O00206	TLR4_HUMAN	P	326;366	ENSP00000377997:A326P;ENSP00000363089:A366P	ENSP00000363089:A366P	A	+	1	0	TLR4	119515323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.079000	0.14782	-0.116000	0.11893	-1.073000	0.02249	GCT	.		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		C	120475502	G	C	120475502	3	2	31	1	0	0	0	0	1	0	0	0	16000	1319	46	3	1106	3	TLR4	9	120475502	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	421831	120475502	20737929	1339	6891											
CEP110	11064	broad.mit.edu;bcgsc.ca	37	chr9	123888004	123888004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcttaggccagatagcAgcaaatgaagccctgaagaa	10	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:123888004A>G	ENST00000373855.1	+	14	2075	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A	CNTRL_ENST00000373850.1_Silent_p.A53A|CNTRL_ENST00000238341.5_Silent_p.A605A|CNTRL_ENST00000373847.1_Silent_p.A53A			Q7Z7A1	CNTRL_HUMAN	centriolin	605					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						GCCAGATAGCAGCAAATGAAG	0.413																																					p.A605A		.											.	CNTRL-661	0			c.A1815G						.						105	107	106					9																	123888004		2203	4300	6503	SO:0001819	synonymous_variant	11064	exon12			GATAGCAGCAAAT	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.1815A>G	9.37:g.123888004A>G		Somatic	70	2		WXS	Illumina GAIIx	Phase_I	100	31	NM_007018	0	0	0	0	0	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																			.		0.413	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123888004	A	G	123888004	2	3	31	1	0	0	0	0	0	0	0	1	3252	175	7	4		4	CEP110	9	123888004	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3412502	123888004	17325427	1340	6892											
MORN5	254956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	124936842	124936842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctattacgattgtggagaCggcttctataacccagtcac	10	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:124936842C>A	ENST00000373764.3	+	4	437	c.375C>A	c.(373-375)gaC>gaA	p.D125E	MORN5_ENST00000536616.1_Missense_Mutation_p.D125E|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	125										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ATTGTGGAGACGGCTTCTATA	0.458																																					p.D125E		.											.	MORN5-90	0			c.C375A						.						110	104	106					9																	124936842		2203	4300	6503	SO:0001583	missense	254956	exon4			TGGAGACGGCTTC	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 113", "chromosome 9 open reading frame 18"	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.375C>A	9.37:g.124936842C>A	ENSP00000362869:p.Asp125Glu	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	106	46	NM_198469	0	0	0	0	0	B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826247	0.50739	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.28255	1.98;1.91;1.62	5.65	-1.67	0.08238	.	0.044727	0.85682	D	0.000000	T	0.33147	0.0853	M	0.65975	2.015	0.43598	D	0.995952	P;P	0.50272	0.933;0.874	P;B	0.47470	0.548;0.261	T	0.13980	-1.0489	10	0.44086	T	0.13	-5.6296	10.0937	0.42462	0.0:0.4522:0.0:0.5478	.	125;125	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	E	125;125;109	ENSP00000362869:D125E;ENSP00000437483:D125E;ENSP00000409949:D109E	ENSP00000362869:D125E	D	+	3	2	MORN5	123976663	0.188000	0.23250	0.990000	0.47175	0.544000	0.35116	-0.784000	0.04633	-0.451000	0.07097	-0.809000	0.03173	GAC	.		0.458	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		A	124936842	C	A	124936842	3	1	31	1	0	0	0	0	1	0	0	0	9749	535	19	2	389	2	MORN5	9	124936842	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1048838	124936842	16276589	1341	6893											
LHX6	26468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	124971944	124971944	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcggctttgaggtggacGgggggtgcggtgtaaggcag	20	5	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:124971944G>T	ENST00000373755.2	-	8	1128	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	LHX6_ENST00000559895.1_Silent_p.P153P|LHX6_ENST00000464484.2_Intron|LHX6_ENST00000373754.2_Intron|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000541397.2_Intron|LHX6_ENST00000394319.4_Silent_p.P369P|LHX6_ENST00000482062.1_Silent_p.P27P	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	340					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	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(5)	8						tgaggtggacggggggtgcgg	0.642																																					p.P369P		.											.	LHX6-90	0			c.C1107A						.						77	64	68					9																	124971944		2203	4300	6503	SO:0001819	synonymous_variant	26468	exon9			GTGGACGGGGGGT	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.1020C>A	9.37:g.124971944G>T		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	201	91	NM_014368	0	0	0	0	0	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	CCDS56583.1																																																																																			.		0.642	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		T	124971944	G	T	124971944	2	4	31	1	0	0	0	0	0	0	0	1	8804	1103	39	2		2	LHX6	9	124971944	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	35102	124971944	16241487	1342	6894											
PTGS1	5742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125154577	125154577	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccaaactctatctttggGgagagtatgatagagattgg	11	6	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125154577G>T	ENST00000362012.2	+	11	1559	c.1554G>T	c.(1552-1554)ggG>ggT	p.G518G	PTGS1_ENST00000373698.5_Silent_p.G409G|PTGS1_ENST00000223423.4_Silent_p.G481G|PTGS1_ENST00000540753.1_Silent_p.G456G	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)	518					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)	CTATCTTTGGGGAGAGTATGA	0.507																																					p.G518G		.											.	PTGS1-228	0			c.G1554T						.						92	95	94					9																	125154577		2203	4300	6503	SO:0001819	synonymous_variant	5742	exon11			CTTTGGGGAGAGT	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.1554G>T	9.37:g.125154577G>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	178	67	NM_000962	0	0	0	0	0	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	CCDS6842.1																																																																																			.		0.507	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			T	125154577	G	T	125154577	2	4	31	1	0	0	0	0	0	0	0	1	12798	1219	43	3		3	PTGS1	9	125154577	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	182633	125154577	16058854	1343	6895											
OR1K1	392392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125562551	125562551	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggactcattgtggctgccatCcaggccagtccagcccttca	10	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125562551C>A	ENST00000277309.2	+	1	182	c.150C>A	c.(148-150)atC>atA	p.I50I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50						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(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572																																					p.I50I		.											.	OR1K1-69	0			c.C150A						.						136	96	109					9																	125562551		2203	4300	6503	SO:0001819	synonymous_variant	392392	exon1			TGCCATCCAGGCC	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.150C>A	9.37:g.125562551C>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	255	102	NM_080859	0	0	0	0	0	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																			.		0.572	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			A	125562551	C	A	125562551	2	1	31	1	0	0	0	0	0	0	0	1	11001	845	30	3		3	OR1K1	9	125562551	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	407974	125562551	15650880	1344	6896											
ZBTB26	57684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125681181	125681181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctccactgtgaaggttaaGatgatcctgtaaggaacact	9	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125681181G>A	ENST00000373656.3	-	2	1106	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	ZBTB26_ENST00000373654.1_Missense_Mutation_p.L345F	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TGAAGGTTAAGATGATCCTGT	0.408																																					p.L345F		.											.	ZBTB26-90	0			c.C1033T						.						72	73	72					9																	125681181		2203	4300	6503	SO:0001583	missense	57684	exon2			GGTTAAGATGATC	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.1033C>T	9.37:g.125681181G>A	ENSP00000362760:p.Leu345Phe	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	76	24	NM_020924	0	0	0	0	0	B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399340	0.62177	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.09255	3.0;3.0	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.32285	0.0824	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04454	-1.0950	10	0.10902	T	0.67	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	345	Q9HCK0	ZBT26_HUMAN	F	345	ENSP00000362760:L345F;ENSP00000362758:L345F	ENSP00000362758:L345F	L	-	1	0	ZBTB26	124721002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.498000	0.66931	2.767000	0.95098	0.655000	0.94253	CTT	.		0.408	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		A	125681181	G	A	125681181	3	1	31	1	0	0	0	0	1	0	0	0	17581	942	33	3	296	3	ZBTB26	9	125681181	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	118630	125681181	15532250	1345	6897											
CRB2	286204	hgsc.bcm.edu	37	chr9	126136139	126136139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgtggccgctgtcacaCgcaccccgacggccgcttcg	12	20	1	0	rs73571431	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:126136139C>T	ENST00000373631.3	+	10	3330	c.3329C>T	c.(3328-3330)aCg>aTg	p.T1110M	CRB2_ENST00000373629.2_Missense_Mutation_p.T778M|CRB2_ENST00000359999.3_Missense_Mutation_p.T1110M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1110	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.		T -> M (in dbSNP:rs73571431). {ECO:0000269|PubMed:15851977}.		cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGTCACACGCACCCCGAC	0.771													C|||	530	0.105831	0.1059	0.1873	5008	,	,		9885	0.0764		0.1412	False		,,,				2504	0.0419				p.T1110M		.											.	CRB2-91	0			c.C3329T						.	C	MET/THR	273,2733		10,253,1240	3	3	3		3329	2.8	0.1	9	dbSNP_131	3	523,5481		24,475,2503	no	missense	CRB2	NM_173689.5	81	34,728,3743	TT,TC,CC		8.7109,9.0818,8.8346	possibly-damaging	1110/1286	126136139	796,8214	1503	3002	4505	SO:0001583	missense	286204	exon10			GTCACACGCACCC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3329C>T	9.37:g.126136139C>T	ENSP00000362734:p.Thr1110Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	272	0.12454212454212454	60	0.12195121951219512	50	0.13812154696132597	56	0.0979020979020979	106	0.13984168865435356	.	6.539	0.467763	0.12402	0.090818	0.087109	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.90732	-2.1;-2.0;-2.72	3.77	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.339200	0.05453	N	0.549893	T	0.01976	0.0062	N	0.12746	0.255	0.80722	P	0.0	P;D	0.56521	0.925;0.976	B;B	0.38562	0.101;0.276	T	0.57100	-0.7869	9	0.36615	T	0.2	.	3.1184	0.06382	0.0:0.4522:0.2781:0.2698	.	1110;1110	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	M	1110;1110;778	ENSP00000353092:T1110M;ENSP00000362734:T1110M;ENSP00000362732:T778M	ENSP00000353092:T1110M	T	+	2	0	CRB2	125175960	0.000000	0.05858	0.081000	0.20488	0.039000	0.13416	0.001000	0.13038	1.929000	0.55896	0.455000	0.32223	ACG	C|0.875;T|0.125		0.771	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126136139	C	T	126136139	3	4	31	1	0	0	0	0	1	0	0	0	3856	536	19	1	3367	1	CRB2	9	126136139	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	454958	126136139	15077292	1346	6898											
OLFML2A	169611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	127549290	127549290	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accaggtgaggatgacctcgGagggctccgactgccgttgc	15	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:127549290G>T	ENST00000373580.3	+	2	127	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	43					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GATGACCTCGGAGGGCTCCGA	0.642																																					p.E43X		.											.	OLFML2A-68	0			c.G127T						.						66	74	71					9																	127549290		2075	4204	6279	SO:0001587	stop_gained	169611	exon2			ACCTCGGAGGGCT	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.127G>T	9.37:g.127549290G>T	ENSP00000362682:p.Glu43*	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	48	18	NM_182487	0	0	0	0	0	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Nonsense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	37	6.473185	0.97594	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000336425:E43X	E	+	1	0	OLFML2A	126589111	1.000000	0.71417	0.968000	0.41197	0.938000	0.57974	9.425000	0.97467	2.699000	0.92147	0.655000	0.94253	GAG	.		0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		T	127549290	G	T	127549290	4	4	31	1	0	0	0	0	0	1	0	0	10896	1175	41	3	133	3	OLFML2A	9	127549290	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1413151	127549290	13664141	1347	6899											
GOLGA1	2800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	127670717	127670717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggctgccaagagctgttgtCtggtatcctccaaattctgc	10	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:127670717C>T	ENST00000373555.4	-	12	1337	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	335					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGCTGTTGTCTGGTATCCTC	0.433																																					p.R335K		.											.	GOLGA1-91	0			c.G1004A						.						134	121	125					9																	127670717		2203	4300	6503	SO:0001583	missense	2800	exon12			TGTTGTCTGGTAT	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1004G>A	9.37:g.127670717C>T	ENSP00000362656:p.Arg335Lys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	96	34	NM_002077	0	0	0	0	0	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299327	0.60195	.	.	ENSG00000136935	ENST00000373555	T	0.76709	-1.04	5.78	4.89	0.63831	.	0.000000	0.51477	D	0.000096	T	0.81688	0.4875	L	0.60455	1.87	0.41340	D	0.987296	D	0.64830	0.994	D	0.70716	0.97	T	0.79155	-0.1920	10	0.05351	T	0.99	-10.0665	12.0768	0.53649	0.0:0.92:0.0:0.08	.	335	Q92805	GOGA1_HUMAN	K	335	ENSP00000362656:R335K	ENSP00000362656:R335K	R	-	2	0	GOLGA1	126710538	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	4.581000	0.60949	1.450000	0.47717	0.650000	0.86243	AGA	.		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		T	127670717	C	T	127670717	3	4	31	1	0	0	0	0	1	0	0	0	6577	913	32	3	1347	3	GOLGA1	9	127670717	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	121427	127670717	13542714	1348	6900											
SH2D3C	10044	broad.mit.edu;bcgsc.ca	37	chr9	130501188	130501188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacctccaggagctccggcCgggcctggaaccctgcagtg	13	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:130501188C>A	ENST00000314830.8	-	12	2533	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R453L|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R649L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R739L|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R650L|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R647L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	807	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCTCCGGCCGGGCCTGGAA	0.642																																					p.R807L		.											.	SH2D3C-228	0			c.G2420T						.						20	19	19					9																	130501188		2196	4299	6495	SO:0001583	missense	10044	exon12			TCCGGCCGGGCCT	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2420G>T	9.37:g.130501188C>A	ENSP00000317817:p.Arg807Leu	Somatic	100	2		WXS	Illumina GAIIx	Phase_I	122	49	NM_170600	0	0	0	0	0	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245808	0.22796	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.23754	2.72;2.72;2.47;2.72;1.89;2.69	5.5	2.39	0.29439	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.307323	0.34750	N	0.003702	T	0.19927	0.0479	L	0.50333	1.59	0.58432	D	0.999994	B;B;B;B;B	0.16603	0.001;0.018;0.0;0.0;0.006	B;B;B;B;B	0.09377	0.001;0.003;0.001;0.001;0.004	T	0.06058	-1.0848	10	0.34782	T	0.22	-13.7067	7.0625	0.25133	0.1404:0.6425:0.0:0.2171	.	647;807;739;650;649	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	L	650;649;739;647;453;807	ENSP00000362374:R650L;ENSP00000388536:R649L;ENSP00000362373:R739L;ENSP00000362371:R647L;ENSP00000394632:R453L;ENSP00000317817:R807L	ENSP00000317817:R807L	R	-	2	0	SH2D3C	129541009	0.001000	0.12720	0.997000	0.53966	0.693000	0.40251	-0.338000	0.07842	1.310000	0.45006	-0.140000	0.14226	CGG	.		0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		A	130501188	C	A	130501188	3	1	31	1	0	0	0	0	1	0	0	0	14279	652	23	2	166	2	SH2D3C	9	130501188	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2830471	130501188	10712243	1349	6901											
SPTAN1	6709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	131395498	131395498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccacagaacctgacccGggaacaagccgactactgcg	9	16	0	2	rs141980692		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:131395498G>A	ENST00000372731.4	+	56	7414	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2440Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2440Q|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2435	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						AACCTGACCCGGGAACAAGCC	0.642													G|||	1	0.000199681	0	0	5008	,	,		17553	0		0	False		,,,				2504	0.001				p.R2440Q	NSCLC(120;833 1744 2558 35612 37579)	.											.	SPTAN1-158	0			c.G7319A						.	G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69	61	63		7319,7244,7304	4.7	1	9	dbSNP_134	63	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	43,43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign	2440/2478,2415/2453,2435/2473	131395498	4,13002	2203	4300	6503	SO:0001583	missense	6709	exon57			TGACCCGGGAACA	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.7304G>A	9.37:g.131395498G>A	ENSP00000361816:p.Arg2435Gln	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	97	21	NM_001130438	0	0	0	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151004	0.57151	2.27E-4	3.49E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.42900	0.96;0.96;0.96	4.69	4.69	0.59074	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.244803	0.35615	N	0.003082	T	0.24470	0.0593	N	0.04508	-0.205	0.43719	D	0.99619	B;B;P	0.42039	0.244;0.296;0.769	B;B;B	0.38156	0.031;0.024;0.266	T	0.18085	-1.0348	10	0.40728	T	0.16	.	17.7973	0.88577	0.0:0.0:1.0:0.0	.	2415;2440;2435	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	Q	2440;2435;2440;2415	ENSP00000350882:R2440Q;ENSP00000361816:R2435Q;ENSP00000361824:R2440Q	ENSP00000350882:R2440Q	R	+	2	0	SPTAN1	130435319	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.347000	0.65998	2.415000	0.81967	0.561000	0.74099	CGG	G|0.999;A|0.001		0.642	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		A	131395498	G	A	131395498	3	1	31	1	0	0	0	0	1	0	0	0	15164	1116	39	1	7541	1	SPTAN1	9	131395498	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	894310	131395498	9817933	1350	6902											
ZER1	10444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131513410	131513410	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggagctgaccttcagggcCcgcagcagctggttgcaacg	14	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:131513410C>A	ENST00000291900.2	-	7	1582	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R	snoU13_ENST00000459043.1_RNA|ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	392					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CCTTCAGGGCCCGCAGCAGCT	0.657																																					p.R392R		.											.	ZER1-91	0			c.G1176T						.						33	31	32					9																	131513410		2200	4298	6498	SO:0001819	synonymous_variant	10444	exon7			CAGGGCCCGCAGC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1176G>T	9.37:g.131513410C>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	150	50	NM_006336	0	0	0	0	0	O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	CCDS6910.1																																																																																			.		0.657	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		A	131513410	C	A	131513410	2	1	31	1	0	0	0	0	0	0	0	1	17673	610	22	3		3	ZER1	9	131513410	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	117912	131513410	9700021	1351	6903											
ASS1	445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	133342123	133342123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtccaggtcattgctccCtggaggatgcctgaattcta	10	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:133342123C>T	ENST00000372394.1	+	7	913	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ASS1_ENST00000372393.3_Silent_p.P144P|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Silent_p.P144P			P00966	ASSY_HUMAN	argininosuccinate synthase 1	144					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TCATTGCTCCCTGGAGGATGC	0.612																																					p.P144P		.											.	ASS1-91	0			c.C432T						.						88	73	78					9																	133342123		2203	4300	6503	SO:0001819	synonymous_variant	445	exon6			TGCTCCCTGGAGG	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.432C>T	9.37:g.133342123C>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	130	44	NM_054012	0	0	0	0	0	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	CCDS6933.1																																																																																			.		0.612	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		T	133342123	C	T	133342123	2	4	31	1	0	0	0	0	0	0	0	1	1062	668	24	3		3	ASS1	9	133342123	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1828713	133342123	7871308	1352	6904											
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135140278	135140278	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggcttgagtttcagaatcTtcactgcatcatgtctatag	8	9	5	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135140278T>A	ENST00000224140.5	-	26	7564	c.7382A>T	c.(7381-7383)aAg>aTg	p.K2461M	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.K2490M|SETX_ENST00000393220.1_Missense_Mutation_p.K2428M	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2461					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)		TTTCAGAATCTTCACTGCATC	0.498																																					p.K2461M		.											.	SETX-93	0			c.A7382T						.						98	102	101					9																	135140278		2203	4300	6503	SO:0001583	missense	23064	exon26			AGAATCTTCACTG	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.7382A>T	9.37:g.135140278T>A	ENSP00000224140:p.Lys2461Met	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	124	57	NM_015046	0	0	0	0	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952544	0.53293	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.94417	-2.33;-3.42;-2.88;-2.04	4.83	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.74881	2.28	0.41300	D	0.987037	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.994;0.997	D	0.95761	0.8800	10	0.59425	D	0.04	.	9.1024	0.36676	0.0:0.0884:0.0:0.9116	.	2428;2461;2490	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	2461;732;2490;2428	ENSP00000224140:K2461M;ENSP00000409143:K732M;ENSP00000361242:K2490M;ENSP00000376913:K2428M	ENSP00000224140:K2461M	K	-	2	0	SETX	134130099	1.000000	0.71417	0.992000	0.48379	0.401000	0.30781	2.183000	0.42565	1.933000	0.56026	0.459000	0.35465	AAG	.		0.498	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		A	135140278	T	A	135140278	3	1	31	1	0	0	0	0	1	0	0	0	14186	1609	56	5	655	5	SETX	9	135140278	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1798155	135140278	6073153	1353	6905											
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135210060	135210060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtttgtctgagcccAacaacagggaatccatggct	9	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135210060A>C	ENST00000224140.5	-	7	955	c.773T>G	c.(772-774)tTg>tGg	p.L258W	SETX_ENST00000372169.2_Missense_Mutation_p.L258W|SETX_ENST00000393220.1_Missense_Mutation_p.L258W	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	258					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)		GTCTGAGCCCAACAACAGGGA	0.353																																					p.L258W		.											.	SETX-93	0			c.T773G						.						169	140	150					9																	135210060		2203	4300	6503	SO:0001583	missense	23064	exon7			GAGCCCAACAACA	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.773T>G	9.37:g.135210060A>C	ENSP00000224140:p.Leu258Trp	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	154	25	NM_015046	0	0	0	0	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912779	0.72983	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.65178	-0.14;-0.14;-0.14	5.91	5.91	0.95273	.	0.098474	0.40469	N	0.001096	T	0.71195	0.3311	L	0.32530	0.975	0.37792	D	0.927396	D	0.89917	1.0	D	0.91635	0.999	T	0.76767	-0.2838	10	0.87932	D	0	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	258	Q7Z333	SETX_HUMAN	W	258	ENSP00000224140:L258W;ENSP00000361242:L258W;ENSP00000376913:L258W	ENSP00000224140:L258W	L	-	2	0	SETX	134199881	1.000000	0.71417	0.954000	0.39281	0.645000	0.38454	6.778000	0.75043	2.263000	0.75096	0.377000	0.23210	TTG	.		0.353	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135210060	A	C	135210060	3	2	31	1	0	0	0	0	1	0	0	0	14186	131	5	5	7340	5	SETX	9	135210060	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	69782	135210060	6003371	1354	6906											
DDX31	64794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	135505693	135505693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgacatattctgcctccGaaggagccaaaatgagcagg	11	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135505693G>A	ENST00000372159.3	-	16	2055	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L	DDX31_ENST00000438527.3_Missense_Mutation_p.S506L|DDX31_ENST00000372153.1_Missense_Mutation_p.R627W	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	635	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTCTGCCTCCGAAGGAGCCAA	0.502																																					p.S635L		.											.	DDX31-226	0			c.C1904T						.						108	115	113					9																	135505693		2203	4300	6503	SO:0001583	missense	64794	exon16			GCCTCCGAAGGAG	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1904C>T	9.37:g.135505693G>A	ENSP00000361232:p.Ser635Leu	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	84	14	NM_022779	0	0	0	0	0	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.790868|4.790868	0.90367|0.90367	.|.	.|.	ENSG00000125485|ENSG00000125485	ENST00000372153|ENST00000372159;ENST00000372155;ENST00000438527	T|T;T	0.03663|0.04917	3.85|3.53;3.53	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Helicase, C-terminal (1);	.|0.181682	.|0.49305	.|D	.|0.000141	T|T	0.22126|0.22126	0.0533|0.0533	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.71674	1.0|0.998	P|P	0.62014|0.58660	0.897|0.843	T|T	0.00098|0.00098	-1.2069|-1.2069	9|10	0.72032|0.66056	D|D	0.01|0.02	-14.0261|-14.0261	18.551|18.551	0.91065|0.91065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	627|635	Q9H8H2-2|Q9H8H2	.|DDX31_HUMAN	W|L	627|635;635;506	ENSP00000361226:R627W|ENSP00000361232:S635L;ENSP00000387730:S506L	ENSP00000361226:R627W|ENSP00000361228:S635L	R|S	-|-	1|2	2|0	DDX31|DDX31	134495514|134495514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.984000|7.984000	0.88150|0.88150	2.619000|2.619000	0.88677|0.88677	0.650000|0.650000	0.86243|0.86243	CGG|TCG	.		0.502	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		A	135505693	G	A	135505693	3	1	31	1	0	0	0	0	1	0	0	0	4365	1059	37	1	671	1	DDX31	9	135505693	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	295633	135505693	5707738	1355	6907											
GTF3C4	9329	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135554353	135554353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgacggaaaggtgaggcaGctgattcccattttcacaga	12	8	1	4	rs375549318		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135554353G>T	ENST00000372146.4	+	2	1911	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	449					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)		AGGTGAGGCAGCTGATTCCCA	0.468																																					p.Q449H	Pancreas(142;417 1875 11086 31973 47667)	.											.	GTF3C4-91	0			c.G1347T						.						116	101	106					9																	135554353		2203	4300	6503	SO:0001583	missense	9329	exon2			GAGGCAGCTGATT	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.1347G>T	9.37:g.135554353G>T	ENSP00000361219:p.Gln449His	Somatic	165	1		WXS	Illumina GAIIx	Phase_I	216	77	NM_012204	0	0	0	0	0	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601999	0.46423	.	.	ENSG00000125484	ENST00000372146	T	0.63096	-0.02	5.61	4.72	0.59763	.	0.103446	0.64402	D	0.000003	T	0.56001	0.1956	N	0.14661	0.345	0.42367	D	0.992436	D	0.61080	0.989	P	0.53809	0.735	T	0.59994	-0.7349	10	0.44086	T	0.13	-27.0342	13.2165	0.59863	0.0773:0.0:0.9227:0.0	.	449	Q9UKN8	TF3C4_HUMAN	H	449	ENSP00000361219:Q449H	ENSP00000361219:Q449H	Q	+	3	2	GTF3C4	134544174	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.329000	0.43876	1.384000	0.46424	0.491000	0.48974	CAG	.		0.468	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			T	135554353	G	T	135554353	3	4	31	1	0	0	0	0	1	0	0	0	6902	962	34	3	1353	3	GTF3C4	9	135554353	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	48660	135554353	5659078	1356	6908											
TSC1	7248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	135781060	135781060	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagggcacaccatcttcctcTgtgtttccttttgctttctt	7	12	3	0	rs118203598|rs118203597|rs397514796		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135781060T>A	ENST00000298552.3	-	15	2126	c.1905A>T	c.(1903-1905)acA>acT	p.T635T	TSC1_ENST00000440111.2_Silent_p.T635T|TSC1_ENST00000545250.1_Silent_p.T584T	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	635					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)		CATCTTCCTCTGTGTTTCCTT	0.498			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.T635T		.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	.	TSC1-1906	1	Unknown(1)	bone(1)	c.A1905T	GRCh37	CD972489	TSC1	D	rs118203598	.						231	193	206					9																	135781060		2203	4300	6503	SO:0001819	synonymous_variant	7248	exon15	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	TTCCTCTGTGTTT	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.1905A>T	9.37:g.135781060T>A		Somatic	170	1		WXS	Illumina GAIIx	Phase_I	209	69	NM_000368	0	0	0	0	0	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																			.		0.498	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			A	135781060	T	A	135781060	2	1	31	1	0	0	0	0	0	0	0	1	16653	1567	55	5		5	TSC1	9	135781060	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	226707	135781060	5432371	1357	6909											
GBGT1	26301	bcgsc.ca	37	chr9	136029495	136029495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccagtgggagtgaccCtggatggggatggagctgag	17	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:136029495C>A	ENST00000372040.3	-	7	824	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBGT1_ENST00000372038.3_3'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.R165M|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q154H	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	171					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGGAGTGACCCTGGATGGGGA	0.627																																					p.Q171H		.											.	GBGT1-90	0			c.G513T						.						42	37	38					9																	136029495		2203	4299	6502	SO:0001583	missense	26301	exon7			GTGACCCTGGATG	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.513G>T	9.37:g.136029495C>A	ENSP00000361110:p.Gln171His	Somatic	95	2		WXS	Illumina GAIIx	Phase_I	124	41	NM_021996	0	0	0	0	0	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.246|5.246	0.230895|0.230895	0.09969|0.09969	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01287|0.25085	5.05;5.05|1.82	5.38|5.38	3.46|3.46	0.39613|0.39613	.|.	0.981452|.	0.08357|.	N|.	0.958368|.	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.15052|.	0.012;0.007|.	T|T	0.14337|0.14337	-1.0476|-1.0476	10|7	0.45353|0.87932	T|D	0.12|0	-0.2384|-0.2384	9.9592|9.9592	0.41686|0.41686	0.1476:0.5672:0.2852:0.0|0.1476:0.5672:0.2852:0.0	.|.	154;171|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	H|M	171;154|165	ENSP00000361110:Q171H;ENSP00000437663:Q154H|ENSP00000361113:R165M	ENSP00000361110:Q171H|ENSP00000361113:R165M	Q|R	-|-	3|2	2|0	GBGT1|GBGT1	135019316|135019316	0.000000|0.000000	0.05858|0.05858	0.036000|0.036000	0.18154|0.18154	0.300000|0.300000	0.27592|0.27592	-1.332000|-1.332000	0.02670|0.02670	0.585000|0.585000	0.29608|0.29608	0.491000|0.491000	0.48974|0.48974	CAG|AGG	.		0.627	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		A	136029495	C	A	136029495	3	1	31	1	0	0	0	0	1	0	0	0	6297	680	24	3	534	3	GBGT1	9	136029495	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	248435	136029495	5183936	1358	6910											
ADAMTS13	11093	hgsc.bcm.edu;bcgsc.ca	37	chr9	136324173	136324173	+	Frame_Shift_Del	DEL	G	G	-													tgggagtcagagagcagccaGgctgagatggagttcagcga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:136324173delG	ENST00000371929.3	+	29	4599	c.4155delG	c.(4153-4155)cagfs	p.Q1385fs	ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.Q1329fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.Q1298fs|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000371910.1_Frame_Shift_Del_p.Q181fs|CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000542192.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1385	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGAGCAGCCAGGCTGAGATGG	0.622																																					p.Q1385fs		.											.	ADAMTS13-229	0			c.4155delG						.						42	39	40					9																	136324173		2202	4300	6502	SO:0001589	frameshift_variant	11093	exon29			CAGCCAGGCTGAG	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.4155delG	9.37:g.136324173delG	ENSP00000360997:p.Gln1385fs	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	226	81	NM_139025	0	0	0	0	0	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Frame_Shift_Del	DEL	ENST00000371929.3	37	CCDS6970.1																																																																																			.		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		-	136324173	G	-	136324173	7	5	31	1	0	1	0	1	0	0	0	0	258	991	35	0	4269	0	ADAMTS13	9	136324173	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	294678	136324173	4889258	1359	6911											
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	137658845	137658845	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctcttgtctcctgtaGggtccccagggagagcctgg	13	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:137658845G>T	ENST00000371817.3	+	23	2547		c.e23-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						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)		GTCTCCTGTAGGGTCCCCAGG	0.632																																					.		.											.	COL5A1-524	0			c.2134-1G>T						.						45	44	44					9																	137658845		2201	4300	6501	SO:0001630	splice_region_variant	1289	exon23			CCTGTAGGGTCCC	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.2134-1G>T	9.37:g.137658845G>T		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	161	54	NM_000093	0	0	0	0	0	Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849614	0.71603	.	.	ENSG00000130635	ENST00000371817	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1691	0.65497	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136798666	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	5.174000	0.65015	2.395000	0.81488	0.655000	0.94253	.	.		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	T	137658845	G	T	137658845	5	4	31	1	0	0	0	0	0	0	1	0	3703	1014	35	3	2223	3	COL5A1	9	137658845	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1334672	137658845	3554586	1360	6912											
SOHLH1	402381	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138585537	138585537	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccacggctccagagggCtgtcctggagctcctgggag	16	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:138585537C>T	ENST00000298466.5	-	0	1702				SOHLH1_ENST00000425225.1_Missense_Mutation_p.S357N	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CTCCAGAGGGCTGTCCTGGAG	0.637																																					p.S357N		.											.	SOHLH1-135	0			c.G1070A						.						17	21	20					9																	138585537		1937	4146	6083	SO:0001624	3_prime_UTR_variant	402381	exon8			AGAGGGCTGTCCT	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.*655G>A	9.37:g.138585537C>T		Somatic	195	0		WXS	Illumina GAIIx	Phase_I	250	83	NM_001101677	0	0	0	0	0	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920084	0.33908	.	.	ENSG00000165643	ENST00000425225	T	0.32753	1.44	4.78	2.81	0.32909	.	.	.	.	.	T	0.34774	0.0909	.	.	.	0.09310	N	1	P	0.50528	0.936	P	0.47645	0.553	T	0.14783	-1.0460	8	0.72032	D	0.01	.	11.3284	0.49463	0.0:0.647:0.353:0.0	.	357	Q5JUK2-2	.	N	357	ENSP00000404438:S357N	ENSP00000404438:S357N	S	-	2	0	SOHLH1	137725358	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.193000	0.17116	1.220000	0.43490	0.650000	0.86243	AGC	.		0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		T	138585537	C	T	138585537	1	4	31	0	1	0	0	0	0	0	0	0	14968	797	28	3		3	SOHLH1	9	138585537	3'UTR	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	926692	138585537	2627894	1361	6913											
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138660771	138660771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaaaacaagtttcacGtcaagtttgctggtgcgtct	9	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:138660771G>T	ENST00000263604.3	+	15	1441	c.1441G>T	c.(1441-1443)Gtc>Ttc	p.V481F	KCNT1_ENST00000371757.2_Missense_Mutation_p.V500F|KCNT1_ENST00000488444.2_Missense_Mutation_p.V481F|KCNT1_ENST00000486577.2_Missense_Mutation_p.V461F|KCNT1_ENST00000487664.1_Missense_Mutation_p.V455F|KCNT1_ENST00000298480.5_Missense_Mutation_p.V500F|KCNT1_ENST00000491806.2_Missense_Mutation_p.V467F|KCNT1_ENST00000490355.2_Missense_Mutation_p.V481F			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	481	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGTTTCACGTCAAGTTTGC	0.617																																					p.V500F		.											.	KCNT1-137	0			c.G1498T						.						112	98	103					9																	138660771		2201	4300	6501	SO:0001583	missense	57582	exon15			TTTCACGTCAAGT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1441G>T	9.37:g.138660771G>T	ENSP00000263604:p.Val481Phe	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	65	15	NM_020822	0	0	0	0	0	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	20.0	3.929724	0.73327	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.45	3.47	0.39725	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	T	0.78039	0.4221	M	0.69823	2.125	0.80722	D	1	P;D;P;B	0.54207	0.585;0.965;0.53;0.386	B;D;B;B	0.65443	0.422;0.935;0.387;0.419	T	0.80881	-0.1184	10	0.87932	D	0	-13.9798	12.1682	0.54141	0.0:0.0:0.8285:0.1715	.	467;500;455;481	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	F	455;500;500;461;467;481;481;481	ENSP00000417851:V455F;ENSP00000298480:V500F;ENSP00000360822:V500F;ENSP00000263604:V481F	ENSP00000263604:V481F	V	+	1	0	KCNT1	137800592	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.387000	0.73191	2.017000	0.59298	0.491000	0.48974	GTC	.		0.617	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138660771	G	T	138660771	3	4	31	1	0	0	0	0	1	0	0	0	8118	1145	40	2	1556	2	KCNT1	9	138660771	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	75234	138660771	2552660	1362	6914											
SEC16A	9919	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	139341310	139341310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtacccgctcaccttGggctctggggcaggctctgg	13	16	3	0	rs376794566		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139341310G>A	ENST00000371706.3	-	26	6288	c.6255C>T	c.(6253-6255)ccC>ccT	p.P2085P	SEC16A_ENST00000313084.5_Silent_p.P291P|SEC16A_ENST00000290037.6_Silent_p.P2085P|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000467838.1_5'Flank|SEC16A_ENST00000313050.7_Silent_p.P2263P|SEC16A_ENST00000431893.2_Silent_p.P2085P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2085	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)		CGCTCACCTTGGGCTCTGGGG	0.622																																					p.P2263P		.											.	.	0			c.C6789T						.						69	77	74					9																	139341310		1969	4131	6100	SO:0001819	synonymous_variant	9919	exon28			CACCTTGGGCTCT	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.6255C>T	9.37:g.139341310G>A		Somatic	73	1		WXS	Illumina GAIIx	Phase_I	80	33	NM_014866	0	0	0	0	0	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140093	0.06669	.	.	ENSG00000148396	ENST00000433860	.	.	.	4.6	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.3552	2.029	0.03525	0.111:0.1711:0.4585:0.2594	.	.	.	.	X	412	.	.	Q	-	1	0	SEC16A	138461131	0.994000	0.37717	0.074000	0.20217	0.020000	0.10135	0.987000	0.29603	0.462000	0.27095	0.313000	0.20887	CAA	.		0.622	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139341310	G	A	139341310	2	1	31	1	0	0	0	0	0	0	0	1	14031	1335	47	3		3	SEC16A	9	139341310	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	680539	139341310	1872121	1363	6915											
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139391450	139391450	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgggcttggccgccacgttCaggtgcccgatgcccaggtg	15	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139391450C>G	ENST00000277541.6	-	34	6816	c.6741G>C	c.(6739-6741)ctG>ctC	p.L2247L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2247					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGCCACGTTCAGGTGCCCGA	0.716			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.L2247L		.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1-5459	2	Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	c.G6741C						.						14	17	16					9																	139391450		2009	4144	6153	SO:0001819	synonymous_variant	4851	exon34			CACGTTCAGGTGC	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.6741G>C	9.37:g.139391450C>G		Somatic	14	0		WXS	Illumina GAIIx	Phase_I	171	44	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			.		0.716	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		G	139391450	C	G	139391450	2	3	31	1	0	0	0	0	0	0	0	1	10586	813	29	3		3	NOTCH1	9	139391450	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	50140	139391450	1821981	1364	6916											
LCN6	158062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139639178	139639178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccccatggcctcctggctgGctgtctccgtcagacctggg	13	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139639178G>C	ENST00000341206.4	-	5	472	c.428C>G	c.(427-429)gCc>gGc	p.A143G	LCN10_ENST00000527229.1_5'Flank|LCN10_ENST00000474369.1_5'Flank|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.A133G|LCN6_ENST00000476567.1_Missense_Mutation_p.A58G	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	143					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTCCTGGCTGGCTGTCTCCGT	0.667																																					p.A143G	Melanoma(172;919 2704 37090 48131)	.											.	LCN6-90	0			c.C428G						.						38	30	33					9																	139639178		2202	4300	6502	SO:0001583	missense	158062	exon5			TGGCTGGCTGTCT	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"Lipocalins"	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.428C>G	9.37:g.139639178G>C	ENSP00000339621:p.Ala143Gly	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	134	53	NM_198946	0	0	0	0	0	B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399699	0.42512	.	.	ENSG00000204003	ENST00000341206	T	0.07444	3.19	3.68	3.68	0.42216	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.550372	0.13947	N	0.351780	T	0.25606	0.0623	M	0.70595	2.14	0.30523	N	0.768253	D	0.76494	0.999	D	0.81914	0.995	T	0.02596	-1.1136	10	0.38643	T	0.18	-11.9225	11.6664	0.51376	0.0:0.0:1.0:0.0	.	143	P62502	LCN6_HUMAN	G	143	ENSP00000339621:A143G	ENSP00000339621:A143G	A	-	2	0	LCN6	138758999	0.995000	0.38212	0.555000	0.28281	0.048000	0.14542	2.486000	0.45259	1.994000	0.58287	0.552000	0.68991	GCC	.		0.667	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		C	139639178	G	C	139639178	3	2	31	1	0	0	0	0	1	0	0	0	8713	1203	42	3	67	3	LCN6	9	139639178	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	247728	139639178	1574253	1365	6917											
SLC34A3	142680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140126591	140126591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaccctccctcagctgaaGgacacaagccagccctggaa	10	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140126591G>T	ENST00000538474.1	+	3	377	c.153G>T	c.(151-153)aaG>aaT	p.K51N	SLC34A3_ENST00000361134.2_Missense_Mutation_p.K51N	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	51					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCAGCTGAAGGACACAAGCC	0.627																																					p.K51N		.											.	SLC34A3-90	0			c.G153T						.						95	100	98					9																	140126591		2203	4300	6503	SO:0001583	missense	142680	exon3			GCTGAAGGACACA	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.153G>T	9.37:g.140126591G>T	ENSP00000442397:p.Lys51Asn	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	165	64	NM_001177317	0	0	0	0	0	A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301828	0.40694	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.33654	1.4;1.4	3.58	-0.749	0.11084	.	0.242826	0.27126	N	0.020820	T	0.35595	0.0937	M	0.67397	2.05	0.23827	N	0.99674	D	0.58620	0.983	P	0.47864	0.559	T	0.29305	-1.0016	10	0.32370	T	0.25	-11.9598	7.5696	0.27900	0.464:0.0:0.536:0.0	.	51	Q8N130	NPT2C_HUMAN	N	51	ENSP00000442397:K51N;ENSP00000355353:K51N	ENSP00000355353:K51N	K	+	3	2	SLC34A3	139246412	0.992000	0.36948	0.565000	0.28409	0.638000	0.38207	0.568000	0.23623	-0.056000	0.13221	0.306000	0.20318	AAG	.		0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		T	140126591	G	T	140126591	3	4	31	1	0	0	0	0	1	0	0	0	14614	991	35	3	159	3	SLC34A3	9	140126591	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	487413	140126591	1086840	1366	6918											
NOXA1	10811	hgsc.bcm.edu	37	chr9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctctctgggggaCctggtgcgcgcctggcacct	15	15	1	0	rs112864733	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000479452.1_5'Flank|EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000342129.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000340951.4_5'Flank|EXD3_ENST00000475006.1_5'Flank	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4	5	5		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	11	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			G	140317999	C	G	140317999	3	3	31	1	0	0	0	0	1	0	0	0	10599	506	18	3	20	3	NOXA1	9	140317999	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	191408	140317999	895432	1367	6919											
EHMT1	79813	broad.mit.edu;bcgsc.ca	37	chr9	140671292	140671292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccgacaccacaacgGgcaggtacctggcacaggct	14	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140671292G>T	ENST00000460843.1	+	12	2041	c.2014G>T	c.(2014-2016)Ggc>Tgc	p.G672C	EHMT1_ENST00000462484.1_Missense_Mutation_p.G672C|EHMT1_ENST00000334856.6_Missense_Mutation_p.G641C|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	672					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCACAACGGGCAGGTACCT	0.577																																					p.G672C		.											.	EHMT1-154	0			c.G2014T						.						40	37	38					9																	140671292		2203	4300	6503	SO:0001583	missense	79813	exon12			ACAACGGGCAGGT	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2014G>T	9.37:g.140671292G>T	ENSP00000417980:p.Gly672Cys	Somatic	79	2		WXS	Illumina GAIIx	Phase_I	98	34	NM_001145527	0	0	0	0	0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841916	0.91197	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.72394	1.34;0.61;-0.65	5.32	5.32	0.75619	.	0.111469	0.64402	D	0.000012	D	0.82536	0.5058	M	0.62723	1.935	0.58432	D	0.999993	B;D;D	0.89917	0.022;1.0;1.0	B;D;D	0.70487	0.03;0.969;0.969	D	0.83731	0.0198	10	0.62326	D	0.03	.	18.6174	0.91308	0.0:0.0:1.0:0.0	.	672;641;672	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	C	641;641;672;672	ENSP00000334476:G641C;ENSP00000417328:G672C;ENSP00000417980:G672C	ENSP00000334476:G641C	G	+	1	0	EHMT1	139791113	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	9.555000	0.98123	2.477000	0.83638	0.561000	0.74099	GGC	.		0.577	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		T	140671292	G	T	140671292	3	4	31	1	0	0	0	0	1	0	0	0	4997	1232	43	3	2060	3	EHMT1	9	140671292	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	353293	140671292	542139	1368	6920											
AKR1C4	1109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	5254964	5254964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttccttccagggtggacCcaaactccccagttcttttg	8	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:5254964C>A	ENST00000380448.1	+	9	941	c.688C>A	c.(688-690)Cca>Aca	p.P230T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.P230T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	230					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						CAGGGTGGACCCAAACTCCCC	0.517																																					p.P230T		.											.	AKR1C4-91	0			c.C688A						.						41	40	40					10																	5254964		2203	4300	6503	SO:0001583	missense	1109	exon7			GTGGACCCAAACT	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.688C>A	10.37:g.5254964C>A	ENSP00000369814:p.Pro230Thr	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	224	81	NM_001818	0	0	0	0	0	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	0.231	-1.021267	0.02061	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.23950	1.88;1.88	3.26	1.26	0.21427	NADP-dependent oxidoreductase domain (3);	0.848152	0.10233	N	0.699383	T	0.21962	0.0529	L	0.47016	1.485	0.09310	N	1	B	0.11235	0.004	B	0.21360	0.034	T	0.30534	-0.9975	10	0.59425	D	0.04	.	5.6159	0.17430	0.0:0.6688:0.205:0.1262	.	230	P17516	AK1C4_HUMAN	T	230	ENSP00000369814:P230T;ENSP00000263126:P230T	ENSP00000263126:P230T	P	+	1	0	AKR1C4	5244964	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.493000	0.06459	0.295000	0.22570	0.313000	0.20887	CCA	.		0.517	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		A	5254964	C	A	5254964	3	1	31	1	0	0	0	0	1	0	0	0	472	623	22	3	714	3	AKR1C4	10	5254964	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		5254964	130279783	1369	6921											
PRKCQ	5588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	6521128	6521128	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattctgccaggaagacCtagaaggagagggaagaagt	14	5	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:6521128C>A	ENST00000263125.5	-	12	1279		c.e12-1		PRKCQ_ENST00000539722.1_Splice_Site|PRKCQ_ENST00000397176.2_Splice_Site	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						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)	CCAGGAAGACCTAGAAGGAGA	0.403																																					.	Ovarian(50;572 1126 10530 25349 30594)	.											.	PRKCQ-1380	0			c.1180-1G>T						.						119	109	112					10																	6521128		2203	4300	6503	SO:0001630	splice_region_variant	5588	exon13			GAAGACCTAGAAG	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.1180-1G>T	10.37:g.6521128C>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	138	45	NM_006257	0	0	0	0	0	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686518	0.47991	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000397178;ENST00000539722	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7576	0.88453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKCQ	6561134	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.666000	0.83877	2.348000	0.79779	0.591000	0.81541	.	.		0.403	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Intron	A	6521128	C	A	6521128	5	1	31	1	0	0	0	0	0	0	1	0	12557	695	24	3	969	3	PRKCQ	10	6521128	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1266164	6521128	129013619	1370	6922											
ITIH5	80760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	7621911	7621911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctccccgaccgtggGcttcccatccgtcaggaaga	12	15	2	1	rs371798698		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7621911G>C	ENST00000256861.6	-	9	1303	c.1225C>G	c.(1225-1227)Ccc>Gcc	p.P409A	ITIH5_ENST00000397146.2_Missense_Mutation_p.P409A|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P409A|ITIH5_ENST00000446830.2_Missense_Mutation_p.P191A|ITIH5_ENST00000298441.6_Missense_Mutation_p.P195A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGACCGTGGGCTTCCCATCC	0.622																																					p.P409A		.											.	ITIH5-92	0			c.C1225G						.						112	99	103					10																	7621911		2203	4300	6503	SO:0001583	missense	80760	exon9			CCGTGGGCTTCCC			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.1225C>G	10.37:g.7621911G>C	ENSP00000256861:p.Pro409Ala	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	139	50	NM_001001851	0	0	0	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	11.49	1.654472	0.29425	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.33	4.37	0.52481	von Willebrand factor, type A (3);	0.095605	0.85682	D	0.000000	D	0.84687	0.5527	.	.	.	0.48830	D	0.99971	P;B;B	0.36412	0.552;0.017;0.013	P;B;B	0.49528	0.614;0.036;0.021	T	0.80555	-0.1330	9	0.19590	T	0.45	-31.233	16.3836	0.83490	0.0:0.232:0.768:0.0	.	409;409;195	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	A	409;409;195;191;409	ENSP00000256861:P409A;ENSP00000380333:P409A;ENSP00000298441:P195A;ENSP00000387969:P191A;ENSP00000380332:P409A	ENSP00000256861:P409A	P	-	1	0	ITIH5	7661917	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	5.916000	0.69981	2.491000	0.84063	0.561000	0.74099	CCC	.		0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7621911	G	C	7621911	3	2	31	1	0	0	0	0	1	0	0	0	7934	1203	42	3	1750	3	ITIH5	10	7621911	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1100783	7621911	127912836	1371	6923											
ITIH5	80760	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	7659227	7659227	+	Frame_Shift_Del	DEL	G	G	-													tttggttaatgacagtagatGggggaggcccagaatcatct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7659227delG	ENST00000256861.6	-	6	749	c.671delC	c.(670-672)ccafs	p.P224fs	ITIH5_ENST00000397146.2_Frame_Shift_Del_p.P224fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.P224fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.P6fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.P10fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	224					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACAGTAGATGGGGGAGGCCC	0.343																																					p.P224fs		.											.	ITIH5-92	0			c.671delC						.						74	72	73					10																	7659227		2203	4300	6503	SO:0001589	frameshift_variant	80760	exon6			GTAGATGGGGGAG			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.671delC	10.37:g.7659227delG	ENSP00000256861:p.Pro224fs	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	50	22	NM_001001851	0	0	0	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Del	DEL	ENST00000256861.6	37																																																																																				.		0.343	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		-	7659227	G	-	7659227	7	5	31	1	0	1	0	1	0	0	0	0	7934	1348	47	0	2316	0	ITIH5	10	7659227	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	37316	7659227	127875520	1372	6924											
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7763735	7763735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagagaaggctggtgaaCtggaggtgagtgcacaccgg	18	6	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7763735C>A	ENST00000358415.4	+	8	1028	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	ITIH2_ENST00000379587.4_Missense_Mutation_p.L277M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	288					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCTGGTGAACTGGAGGTGAG	0.537																																					p.L288M		.											.	ITIH2-93	0			c.C862A						.						171	154	159					10																	7763735		2203	4300	6503	SO:0001583	missense	3698	exon8			GGTGAACTGGAGG	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.862C>A	10.37:g.7763735C>A	ENSP00000351190:p.Leu288Met	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	219	76	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409828	0.42715	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.78595	-1.19;-1.19	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88370	0.6418	M	0.84326	2.69	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	D	0.89843	0.4004	10	0.87932	D	0	-24.5914	14.2511	0.66021	0.0:0.926:0.0:0.074	.	288	P19823	ITIH2_HUMAN	M	288;277	ENSP00000351190:L288M;ENSP00000368906:L277M	ENSP00000351190:L288M	L	+	1	2	ITIH2	7803741	0.990000	0.36364	0.335000	0.25508	0.128000	0.20619	2.505000	0.45424	2.470000	0.83445	0.462000	0.41574	CTG	.		0.537	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7763735	C	A	7763735	3	1	31	1	0	0	0	0	1	0	0	0	7931	564	20	3	892	3	ITIH2	10	7763735	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	104508	7763735	127771012	1373	6925											
ATP5C1	509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7841035	7841035	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcagatcgaggactGtgtggtgctattcattcctc	11	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7841035G>C	ENST00000356708.7	+	4	385	c.306G>C	c.(304-306)ctG>ctC	p.L102L	ATP5C1_ENST00000541227.1_Silent_p.L55L|ATP5C1_ENST00000335698.4_Silent_p.L102L|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	102					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCGAGGACTGTGTGGTGCTA	0.423																																					p.L102L	Melanoma(143;1012 1820 16249 30920 33158)	.											.	ATP5C1-90	0			c.G306C						.						152	134	140					10																	7841035		2203	4300	6503	SO:0001819	synonymous_variant	509	exon4			AGGACTGTGTGGT	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.306G>C	10.37:g.7841035G>C		Somatic	306	0		WXS	Illumina GAIIx	Phase_I	306	85	NM_005174	0	0	0	0	0	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	CCDS31142.1																																																																																			.		0.423	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		C	7841035	G	C	7841035	2	2	31	1	0	0	0	0	0	0	0	1	1150	1364	48	3		3	ATP5C1	10	7841035	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	77300	7841035	127693712	1374	6926											
UPF2	26019	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	12046670	12046670	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcttcccatataccaccttCcaagtcatattctccaggtt	3	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:12046670C>A	ENST00000356352.2	-	4	1836	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UPF2_ENST00000357604.5_Nonsense_Mutation_p.E455*|UPF2_ENST00000397053.2_Nonsense_Mutation_p.E455*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	455					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATACCACCTTCCAAGTCATAT	0.353																																					p.E455X		.											.	UPF2-515	0			c.G1363T						.						113	104	107					10																	12046670		2203	4300	6503	SO:0001587	stop_gained	26019	exon5			CACCTTCCAAGTC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1363G>T	10.37:g.12046670C>A	ENSP00000348708:p.Glu455*	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	75	35	NM_080599	0	0	0	0	0	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	40	7.970815	0.98588	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.0304	0.92953	0.0:1.0:0.0:0.0	.	.	.	.	X	455;455;425;455;425	.	ENSP00000313617:E425X	E	-	1	0	UPF2	12086676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.508000	0.84585	0.563000	0.77884	GAA	.		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	12046670	C	A	12046670	4	1	31	1	0	0	0	0	0	1	0	0	17053	864	30	3	2527	3	UPF2	10	12046670	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4205635	12046670	123488077	1375	6927											
UCMA	221044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	13275734	13275734	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtggcccctgcactcaCcttcactcgcctcttctccc	8	19	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:13275734C>A	ENST00000378681.3	-	2	197		c.e2+1		UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated						negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCTGCACTCACCTTCACTCGC	0.647																																					.		.											.	UCMA-90	0			c.124+1G>T						.						86	75	79					10																	13275734		2203	4300	6503	SO:0001630	splice_region_variant	221044	exon3			CACTCACCTTCAC	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.124+1G>T	10.37:g.13275734C>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	84	30	NM_145314	0	0	0	0	0		Splice_Site	SNP	ENST00000378681.3	37	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	9.437	1.087042	0.20390	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1542	0.65407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCMA	13315740	0.997000	0.39634	0.998000	0.56505	0.015000	0.08874	3.725000	0.54970	2.420000	0.82092	0.561000	0.74099	.	.		0.647	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314	Intron	A	13275734	C	A	13275734	5	1	31	1	0	0	0	0	0	0	1	0	16975	521	18	3	307	3	UCMA	10	13275734	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1229064	13275734	122259013	1376	6928											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	16949626	16949626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcattgcttacattcacaCtactacacagtttctctagc	3	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:16949626C>T	ENST00000377833.4	-	49	7651	c.7586G>A	c.(7585-7587)aGt>aAt	p.S2529N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2529	CUB 18. {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)	TACATTCACACTACTACACAG	0.408																																					p.S2529N		.											.	CUBN-166	0			c.G7586A						.						106	91	96					10																	16949626		2203	4300	6503	SO:0001583	missense	8029	exon49			TTCACACTACTAC	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.7586G>A	10.37:g.16949626C>T	ENSP00000367064:p.Ser2529Asn	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	190	71	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.175866	0.09443	.	.	ENSG00000107611	ENST00000377833	T	0.28666	1.6	5.38	-0.687	0.11320	CUB (5);	0.660306	0.14055	N	0.344497	T	0.13713	0.0332	N	0.20483	0.58	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.21177	-1.0253	10	0.21540	T	0.41	.	1.8863	0.03238	0.1512:0.1837:0.1499:0.5152	.	2529	O60494	CUBN_HUMAN	N	2529	ENSP00000367064:S2529N	ENSP00000367064:S2529N	S	-	2	0	CUBN	16989632	0.014000	0.17966	0.051000	0.19133	0.555000	0.35460	0.964000	0.29306	0.024000	0.15214	0.650000	0.86243	AGT	.		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16949626	C	T	16949626	3	4	31	1	0	0	0	0	1	0	0	0	4060	565	20	3	3361	3	CUBN	10	16949626	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3673892	16949626	118585121	1377	6929											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	16970184	16970184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgcattgaagcctgcCctggttacactggagtccga	12	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:16970184C>G	ENST00000377833.4	-	41	6308	c.6243G>C	c.(6241-6243)agG>agC	p.R2081S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2081	CUB 14. {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)	TGAAGCCTGCCCTGGTTACAC	0.473																																					p.R2081S		.											.	CUBN-166	0			c.G6243C						.						84	78	80					10																	16970184		2203	4300	6503	SO:0001583	missense	8029	exon41			GCCTGCCCTGGTT	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.6243G>C	10.37:g.16970184C>G	ENSP00000367064:p.Arg2081Ser	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	59	32	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752250	0.15778	.	.	ENSG00000107611	ENST00000377833	T	0.33654	1.4	5.71	2.03	0.26663	CUB (5);	0.637132	0.13818	N	0.360589	T	0.15132	0.0365	N	0.05467	-0.045	0.41156	D	0.986061	B	0.20164	0.042	B	0.24394	0.053	T	0.11941	-1.0567	10	0.22109	T	0.4	.	1.778	0.03025	0.1766:0.4318:0.1058:0.2858	.	2081	O60494	CUBN_HUMAN	S	2081	ENSP00000367064:R2081S	ENSP00000367064:R2081S	R	-	3	2	CUBN	17010190	0.099000	0.21834	0.118000	0.21660	0.825000	0.46686	-0.196000	0.09532	0.546000	0.28920	0.655000	0.94253	AGG	.		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16970184	C	G	16970184	3	3	31	1	0	0	0	0	1	0	0	0	4060	622	22	3	4736	3	CUBN	10	16970184	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	20558	16970184	118564563	1378	6930											
VIM	7431	broad.mit.edu;bcgsc.ca	37	chr10	17275787	17275787	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatccaggagctgcagGctcagattcaggaacagcat	12	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:17275787G>C	ENST00000224237.5	+	4	884	c.739G>C	c.(739-741)Gct>Cct	p.A247P	VIM_ENST00000544301.1_Missense_Mutation_p.A247P|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	247	Linker 12.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGCTGCAGGCTCAGATTCA	0.537																																					p.A247P		.											.	VIM-291	0			c.G739C						.						82	74	77					10																	17275787		2203	4300	6503	SO:0001583	missense	7431	exon5			CTGCAGGCTCAGA	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.739G>C	10.37:g.17275787G>C	ENSP00000224237:p.Ala247Pro	Somatic	201	3		WXS	Illumina GAIIx	Phase_I	223	82	NM_003380	0	0	0	0	0	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402287	0.62288	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.89415	-2.51;-2.51;-2.51	6.14	6.14	0.99180	Filament (1);	0.000000	0.46442	D	0.000298	D	0.91872	0.7427	M	0.81942	2.565	0.45554	D	0.998505	P;P;P;P;P	0.47910	0.663;0.612;0.902;0.902;0.663	B;B;P;P;B	0.48425	0.375;0.258;0.577;0.476;0.375	D	0.92278	0.5831	10	0.66056	D	0.02	.	16.2071	0.82135	0.0:0.1321:0.8679:0.0	.	247;234;234;247;247	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	P	247;247;234;73	ENSP00000446007:A247P;ENSP00000224237:A247P;ENSP00000391842:A73P	ENSP00000224237:A247P	A	+	1	0	VIM	17315793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.927000	0.99377	0.637000	0.83480	GCT	.		0.537	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		C	17275787	G	C	17275787	3	2	31	1	0	0	0	0	1	0	0	0	17215	1203	42	3	753	3	VIM	10	17275787	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	305603	17275787	118258960	1379	6931											
PTPLA	9200	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	17636354	17636354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcaccagcaactccaaCaggatataagatgataaaaa	6	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:17636354C>T	ENST00000361271.3	-	6	671	c.634G>A	c.(634-636)Gtt>Att	p.V212I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	212					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GCAACTCCAACAGGATATAAG	0.328																																					p.V212I		.											.	PTPLA-226	0			c.G634A						.						50	50	50					10																	17636354		2203	4297	6500	SO:0001583	missense	9200	exon6			CTCCAACAGGATA	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.634G>A	10.37:g.17636354C>T	ENSP00000355308:p.Val212Ile	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	66	21	NM_014241	0	0	0	0	0	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	6.430	0.447492	0.12223	.	.	ENSG00000165996	ENST00000361271	T	0.27720	1.65	5.72	3.84	0.44239	.	0.354955	0.30260	N	0.010039	T	0.11367	0.0277	N	0.02103	-0.685	0.80722	D	1	B	0.12013	0.005	B	0.16289	0.015	T	0.11227	-1.0596	10	0.11485	T	0.65	-28.7551	12.0173	0.53321	0.0:0.8603:0.0:0.1397	.	212	B0YJ81	HACD1_HUMAN	I	212	ENSP00000355308:V212I	ENSP00000355308:V212I	V	-	1	0	PTPLA	17676360	0.190000	0.23276	0.993000	0.49108	0.992000	0.81027	0.489000	0.22387	1.544000	0.49359	0.650000	0.86243	GTT	.		0.328	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		T	17636354	C	T	17636354	3	4	31	1	0	0	0	0	1	0	0	0	12817	478	17	3	240	3	PTPLA	10	17636354	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	360567	17636354	117898393	1380	6932											
MRC1	4360	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	18138668	18138668	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacaccatcgaggaattggaCtttattatctcccagctagg	8	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:18138668C>G	ENST00000239761.3	+	7	1327	c.1224C>G	c.(1222-1224)gaC>gaG	p.D408E		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	408	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGAATTGGACTTTATTATCT	0.448																																					p.D408E	GBM(115;1153 1594 28187 28781 35884)	.											.	MRC1-68	0			c.C1224G						.						79	120	105					10																	18138668		1389	2258	3647	SO:0001583	missense	4360	exon7			ATTGGACTTTATT	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1224C>G	10.37:g.18138668C>G	ENSP00000239761:p.Asp408Glu	Somatic	306	1		WXS	Illumina GAIIx	Phase_I	311	235	NM_002438	0	0	0	0	0	A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	ENST00000239761.3	37	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150634	0.37923	.	.	ENSG00000120586	ENST00000239761	T	0.18174	2.23	4.35	3.45	0.39498	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.239315	0.27159	U	0.020647	T	0.12944	0.0314	N	0.10809	0.05	0.22446	N	0.999097	D	0.63046	0.992	P	0.58172	0.834	T	0.10132	-1.0643	10	0.02654	T	1	-16.9685	8.9869	0.35999	0.0:0.8185:0.0:0.1815	.	408	P22897	MRC1_HUMAN	E	408	ENSP00000239761:D408E	ENSP00000239761:D408E	D	+	3	2	MRC1	18178674	1.000000	0.71417	0.982000	0.44146	0.253000	0.25986	1.427000	0.34881	0.831000	0.34780	0.430000	0.28490	GAC	.		0.448	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		G	18138668	C	G	18138668	3	3	31	1	0	0	0	0	1	0	0	0	9794	564	20	3	5741	3	MRC1	10	18138668	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	502314	18138668	117396079	1381	6933											
SLC39A12	221074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	18254445	18254445	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacgctgcagaaaaaatctGgaatagtgagcagtgaaggt	12	5	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:18254445G>T	ENST00000377369.2	+	4	850	c.577G>T	c.(577-579)Gga>Tga	p.G193*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.G193*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.G59*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.G193*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	193					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAAAAAATCTGGAATAGTGAG	0.388																																					p.G193X		.											.	SLC39A12-154	0			c.G577T						.						83	83	83					10																	18254445		2203	4300	6503	SO:0001587	stop_gained	221074	exon4			AAATCTGGAATAG		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.577G>T	10.37:g.18254445G>T	ENSP00000366586:p.Gly193*	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	49	12	NM_152725	0	0	0	0	0	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880481	0.97904	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	5.72	5.72	0.89469	.	0.202680	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.6852	19.8672	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	193;193;193;59;113	.	ENSP00000366586:G193X	G	+	1	0	SLC39A12	18294451	1.000000	0.71417	0.981000	0.43875	0.366000	0.29705	6.778000	0.75043	2.715000	0.92844	0.655000	0.94253	GGA	.		0.388	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		T	18254445	G	T	18254445	4	4	31	1	0	0	0	0	0	1	0	0	14660	1349	47	3	587	3	SLC39A12	10	18254445	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	115777	18254445	117280302	1382	6934											
MSRB2	22921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	23408289	23408289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgttttccgaggctcatgGtacgtctggctctgatgaaa	11	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:23408289G>A	ENST00000376510.3	+	4	456	c.353G>A	c.(352-354)gGt>gAt	p.G118D	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	118					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)	GAGGCTCATGGTACGTCTGGC	0.507																																					p.G118D	Esophageal Squamous(89;1240 1363 4973 30188 42299)	.											.	MSRB2-90	0			c.G353A						.						111	112	111					10																	23408289		2016	4173	6189	SO:0001583	missense	22921	exon4			CTCATGGTACGTC	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.353G>A	10.37:g.23408289G>A	ENSP00000365693:p.Gly118Asp	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	153	54	NM_012228	0	0	0	0	0	Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726140	0.69074	.	.	ENSG00000148450	ENST00000376510	T	0.63096	-0.02	5.61	5.61	0.85477	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.047920	0.85682	N	0.000000	T	0.61850	0.2380	N	0.04508	-0.205	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.67635	-0.5620	10	0.36615	T	0.2	-16.7966	18.77	0.91888	0.0:0.0:1.0:0.0	.	118	Q9Y3D2	MSRB2_HUMAN	D	118	ENSP00000365693:G118D	ENSP00000365693:G118D	G	+	2	0	MSRB2	23448295	1.000000	0.71417	0.077000	0.20336	0.617000	0.37484	7.950000	0.87804	2.813000	0.96785	0.655000	0.94253	GGT	.		0.507	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		A	23408289	G	A	23408289	3	1	31	1	0	0	0	0	1	0	0	0	9926	1261	44	3	367	3	MSRB2	10	23408289	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5153844	23408289	112126458	1383	6935											
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	25701255	25701255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgtctgcctaccttgcagGgagggctgccccttctgtgc	12	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25701255G>T	ENST00000376351.3	+	4	1547	c.1188G>T	c.(1186-1188)agG>agT	p.R396S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	396					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACCTTGCAGGGAGGGCTGCC	0.488																																					p.R396S		.											.	GPR158-141	0			c.G1188T						.						220	200	207					10																	25701255		2203	4300	6503	SO:0001583	missense	57512	exon4			TTGCAGGGAGGGC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1188G>T	10.37:g.25701255G>T	ENSP00000365529:p.Arg396Ser	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	242	86	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472502	0.26423	.	.	ENSG00000151025	ENST00000376351	T	0.60299	0.2	6.16	0.386	0.16254	.	0.212230	0.39834	N	0.001260	T	0.35128	0.0921	N	0.19112	0.55	0.39726	D	0.97154	B	0.12630	0.006	B	0.13407	0.009	T	0.04870	-1.0921	10	0.30854	T	0.27	.	6.5768	0.22571	0.3931:0.1139:0.493:0.0	.	396	Q5T848	GP158_HUMAN	S	396	ENSP00000365529:R396S	ENSP00000365529:R396S	R	+	3	2	GPR158	25741261	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	0.700000	0.25601	-0.178000	0.10672	0.650000	0.86243	AGG	.		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25701255	G	T	25701255	3	4	31	1	0	0	0	0	1	0	0	0	6689	1223	43	3	1202	3	GPR158	10	25701255	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2292966	25701255	109833492	1384	6936											
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	25839904	25839904	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgttttcatcccacaGgttgttattttgtactttga	6	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25839904G>T	ENST00000376351.3	+	6	1763		c.e6-1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCATCCCACAGGTTGTTATTT	0.408																																					.		.											.	GPR158-141	0			c.1405-1G>T						.						199	172	181					10																	25839904		2203	4300	6503	SO:0001630	splice_region_variant	57512	exon6			CCCACAGGTTGTT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1405-1G>T	10.37:g.25839904G>T		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	160	52	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794972	0.90453	.	.	ENSG00000151025	ENST00000376351	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25879910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.148000	0.94652	2.724000	0.93272	0.650000	0.86243	.	.		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Intron	T	25839904	G	T	25839904	5	4	31	1	0	0	0	0	0	0	1	0	6689	1014	35	3	1426	3	GPR158	10	25839904	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	138649	25839904	109694843	1385	6937											
GPR158	57512	ucsc.edu;bcgsc.ca;mdanderson.org|ucsc.edu;bcgsc.ca	37	chr10	25861668	25861669	+	Missense_Mutation	DNP	GG	GG	AT													atgctggcagtaatactcttGgtagtgttttggtttctcat							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25861668_25861669GG>AT	ENST00000376351.3	+	7	1964_1965	c.1605_1606GG>AT	c.(1603-1608)ttGGta>ttATta	p.V536L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	536					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAATACTCTTGGTAGTGTTTTG	0.45																																					p.L535L|p.V536L		.											.	GPR158-141	0			c.G1605A|c.G1606T						.																																			SO:0001583	missense	57512	exon7			ACTCTTGGTAGTG|CTCTTGGTAGTGT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	Exception_encountered	10.37:g.25861668_25861669delinsAT	ENSP00000365529:p.Val536Leu	Somatic	203	2		WXS	Illumina GAIIx	Phase_I	233|234	71|72	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Silent|Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																			.		0.45	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		AT	25861669	GG	AT	25861668	3	1	31	1	0	0	0	0	1	0	0	0	6689	1339	47	3	1631	3	GPR158	10	25861668	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	21764	25861668	109673079	1386	6938											
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	25885596	25885596	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacattcaagcaataacccaCgagatgatattgctacagaa	6	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25885596C>G	ENST00000376351.3	+	10	2382	c.2023C>G	c.(2023-2025)Cga>Gga	p.R675G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	675					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATAACCCACGAGATGATAT	0.408																																					p.R675G		.											.	GPR158-141	0			c.C2023G						.						123	99	107					10																	25885596		2203	4300	6503	SO:0001583	missense	57512	exon10			AACCCACGAGATG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2023C>G	10.37:g.25885596C>G	ENSP00000365529:p.Arg675Gly	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	125	41	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	c	18.44	3.623783	0.66901	.	.	ENSG00000151025	ENST00000376351	T	0.62788	-0.0	6.03	2.94	0.34122	.	0.000000	0.64402	D	0.000004	T	0.75796	0.3898	M	0.72353	2.195	0.47341	D	0.999391	D	0.76494	0.999	D	0.74674	0.984	T	0.76870	-0.2799	10	0.46703	T	0.11	.	14.0548	0.64761	0.6642:0.3358:0.0:0.0	.	675	Q5T848	GP158_HUMAN	G	675	ENSP00000365529:R675G	ENSP00000365529:R675G	R	+	1	2	GPR158	25925602	0.995000	0.38212	0.749000	0.31150	0.961000	0.63080	1.700000	0.37815	0.886000	0.36113	-0.121000	0.15023	CGA	.		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25885596	C	G	25885596	3	3	31	1	0	0	0	0	1	0	0	0	6689	528	19	2	2061	2	GPR158	10	25885596	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	23928	25885596	109649151	1387	6939											
GPR158	57512	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	25887095	25887095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaggagacaacagaaaattCcacactggaatccctgtcgg	11	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25887095C>A	ENST00000376351.3	+	11	2899	c.2540C>A	c.(2539-2541)tCc>tAc	p.S847Y	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	847					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACAGAAAATTCCACACTGGAA	0.493																																					p.S847Y		.											.	GPR158-141	0			c.C2540A						.						106	117	113					10																	25887095		2203	4300	6503	SO:0001583	missense	57512	exon11			AAAATTCCACACT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2540C>A	10.37:g.25887095C>A	ENSP00000365529:p.Ser847Tyr	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	152	47	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757441	0.49468	.	.	ENSG00000151025	ENST00000376351	T	0.66460	-0.21	5.79	4.87	0.63330	.	0.338755	0.25453	N	0.030565	T	0.78298	0.4261	L	0.59436	1.845	0.44816	D	0.997823	D	0.60160	0.987	D	0.64595	0.927	T	0.79883	-0.1615	10	0.56958	D	0.05	.	16.7743	0.85547	0.0:0.8709:0.129:0.0	.	847	Q5T848	GP158_HUMAN	Y	847	ENSP00000365529:S847Y	ENSP00000365529:S847Y	S	+	2	0	GPR158	25927101	1.000000	0.71417	0.011000	0.14972	0.149000	0.21700	4.623000	0.61247	1.406000	0.46857	0.650000	0.86243	TCC	.		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		A	25887095	C	A	25887095	3	1	31	1	0	0	0	0	1	0	0	0	6689	855	30	3	2582	3	GPR158	10	25887095	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1499	25887095	109647652	1388	6940											
MYO3A	53904	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	26459432	26459432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccattcaaacttctgatcAggaattcgactacaagaaaa	5	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:26459432A>T	ENST00000265944.5	+	29	3528	c.3362A>T	c.(3361-3363)cAg>cTg	p.Q1121L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1121					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTCTGATCAGGAATTCGAC	0.338																																					p.Q1121L		.											.	MYO3A-1007	0			c.A3362T						.						67	62	63					10																	26459432		2203	4300	6503	SO:0001583	missense	53904	exon29			CTGATCAGGAATT	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.3362A>T	10.37:g.26459432A>T	ENSP00000265944:p.Gln1121Leu	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	250	64	NM_017433	0	0	0	0	0	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.199	0.404855	0.11754	.	.	ENSG00000095777	ENST00000265944	T	0.77750	-1.12	5.03	2.65	0.31530	.	0.313882	0.33959	N	0.004386	T	0.60843	0.2300	L	0.29908	0.895	0.09310	N	0.999995	B	0.28439	0.212	B	0.24006	0.05	T	0.54741	-0.8248	10	0.72032	D	0.01	.	3.9723	0.09458	0.6232:0.0:0.2292:0.1477	.	1121	Q8NEV4	MYO3A_HUMAN	L	1121	ENSP00000265944:Q1121L	ENSP00000265944:Q1121L	Q	+	2	0	MYO3A	26499438	0.145000	0.22656	0.142000	0.22268	0.148000	0.21650	0.534000	0.23098	0.366000	0.24427	-0.290000	0.09829	CAG	.		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26459432	A	T	26459432	3	4	31	1	0	0	0	0	1	0	0	0	10114	188	7	5	3468	5	MYO3A	10	26459432	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	572337	26459432	109075315	1389	6941											
ZEB1	6935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	31750115	31750115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccagacagtgttaccaGggaggagcagtgaaagagaa	14	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:31750115G>T	ENST00000320985.10	+	2	318	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	ZEB1_ENST00000446923.2_Missense_Mutation_p.G53W|ZEB1_ENST00000361642.5_Missense_Mutation_p.G70W|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.G70W|ZEB1_ENST00000542815.3_Intron			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	70					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)				AGTGTTACCAGGGAGGAGCAG	0.418																																					p.G70W	Ovarian(40;423 959 14296 36701 49589)	.											.	ZEB1-518	0			c.G208T						.						113	83	93					10																	31750115		2203	4300	6503	SO:0001583	missense	6935	exon2			TTACCAGGGAGGA	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.208G>T	10.37:g.31750115G>T	ENSP00000319248:p.Gly70Trp	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	279	103	NM_001174093	0	0	0	0	0	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336426	0.81801	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923	T;T;T;T	0.80033	-1.18;-1.18;-1.18;-1.33	5.6	5.6	0.85130	.	1.561240	0.03605	N	0.234036	D	0.86343	0.5910	L	0.40543	1.245	0.41139	D	0.985948	D;D;D;D;D;D	0.60575	0.988;0.979;0.979;0.969;0.973;0.979	P;P;P;P;P;P	0.54210	0.715;0.697;0.604;0.745;0.715;0.697	T	0.76000	-0.3119	10	0.66056	D	0.02	-9.3486	19.6324	0.95717	0.0:0.0:1.0:0.0	.	53;70;70;70;70;70	E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;ZEB1_HUMAN	W	70;70;70;70;70;70;53	ENSP00000354487:G70W;ENSP00000319248:G70W;ENSP00000415961:G70W;ENSP00000391612:G53W	ENSP00000319248:G70W	G	+	1	0	ZEB1	31790121	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.560000	0.82277	2.651000	0.90000	0.555000	0.69702	GGG	.		0.418	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		T	31750115	G	T	31750115	3	4	31	1	0	0	0	0	1	0	0	0	17671	1000	35	3	225	3	ZEB1	10	31750115	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5290683	31750115	103784632	1390	6942											
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	37422904	37422904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagttggcatgcttcttcaGcaaaatgttgacgtctttgc	9	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:37422904G>T	ENST00000602533.1	+	5	609	c.510G>T	c.(508-510)caG>caT	p.Q170H	RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q170H|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q170H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	226					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q170H(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTCTTCAGCAAAATGTTG	0.383																																					p.Q170H		.											.	ANKRD30A-161	1	Substitution - Missense(1)	lung(1)	c.G510T						.						256	237	243					10																	37422904		1910	4127	6037	SO:0001583	missense	91074	exon5			TCTTCAGCAAAAT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.510G>T	10.37:g.37422904G>T	ENSP00000473551:p.Gln170His	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	152	66	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	10.87	1.472861	0.26423	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.66460	-0.13;-0.21	1.43	-0.535	0.11879	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74230	0.3689	M	0.76574	2.34	0.09310	N	1	D	0.55800	0.973	D	0.65323	0.934	T	0.61327	-0.7085	9	0.62326	D	0.03	.	3.5493	0.07840	0.5041:0.0:0.4959:0.0	.	226	Q9BXX3	AN30A_HUMAN	H	170	ENSP00000354432:Q170H;ENSP00000363792:Q170H	ENSP00000354432:Q170H	Q	+	3	2	ANKRD30A	37462910	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.365000	0.07573	-0.018000	0.14079	0.289000	0.19496	CAG	.		0.383	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37422904	G	T	37422904	3	4	31	1	0	0	0	0	1	0	0	0	658	962	34	3	528	3	ANKRD30A	10	37422904	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5672789	37422904	98111843	1391	6943											
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	37508068	37508068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagattttaaaagaaaagaAtgctgaacttcagatgaccc	7	6	1	6			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:37508068A>G	ENST00000602533.1	+	34	3359	c.3260A>G	c.(3259-3261)aAt>aGt	p.N1087S	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.N1206S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N1087S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1143					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAGAAAAGAATGCTGAACTT	0.353																																					p.N1087S		.											.	ANKRD30A-161	0			c.A3260G						.						117	117	117					10																	37508068		1816	4066	5882	SO:0001583	missense	91074	exon34			AAAAGAATGCTGA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3260A>G	10.37:g.37508068A>G	ENSP00000473551:p.Asn1087Ser	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	252	49	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	3.725	-0.056717	0.07362	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.18174	2.23;2.23	2.64	1.33	0.21861	.	.	.	.	.	T	0.28034	0.0691	M	0.79693	2.465	0.19775	N	0.999958	P	0.47604	0.898	P	0.50192	0.634	T	0.11641	-1.0579	9	0.62326	D	0.03	.	5.3405	0.15981	0.5691:0.0:0.0:0.4309	.	1143	Q9BXX3	AN30A_HUMAN	S	1087;1206	ENSP00000354432:N1087S;ENSP00000363792:N1206S	ENSP00000354432:N1087S	N	+	2	0	ANKRD30A	37548074	1.000000	0.71417	0.568000	0.28447	0.055000	0.15305	1.158000	0.31737	1.077000	0.40990	0.234000	0.17832	AAT	.		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37508068	A	G	37508068	3	3	31	1	0	0	0	0	1	0	0	0	658	101	4	4	3394	4	ANKRD30A	10	37508068	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	85164	37508068	98026679	1392	6944											
ZNF33A	7581	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	38305844	38305844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcatttaaagatgtgactGtgggcttcacccaggaggag	12	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:38305844G>T	ENST00000458705.2	+	3	213	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	ZNF33A_ENST00000469037.2_Missense_Mutation_p.V19L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.V19L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Missense_Mutation_p.V26L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.V19L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	19	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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGATGTGACTGTGGGCTTCAC	0.478																																					p.V19L		.											.	ZNF33A-93	0			c.G55T						.						78	78	78					10																	38305844		2203	4300	6503	SO:0001583	missense	7581	exon3			GTGACTGTGGGCT	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.55G>T	10.37:g.38305844G>T	ENSP00000387713:p.Val19Leu	Somatic	286	1		WXS	Illumina GAIIx	Phase_I	319	107	NM_006954	0	0	0	0	0	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599842	0.66332	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	3.52	3.52	0.40303	Krueppel-associated box (4);	.	.	.	.	T	0.26195	0.0639	M	0.90870	3.155	0.25609	N	0.986512	D;P;D;D	0.89917	0.99;0.922;0.992;1.0	D;P;D;D	0.87578	0.98;0.583;0.992;0.998	T	0.04333	-1.0959	9	0.87932	D	0	.	10.7336	0.46111	0.0:0.0:1.0:0.0	.	26;19;19;19	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	L	19;26;19;19;19	ENSP00000363747:V19L;ENSP00000402467:V26L;ENSP00000387713:V19L;ENSP00000304268:V19L	ENSP00000277672:V19L	V	+	1	0	ZNF33A	38345850	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.978000	0.49305	1.981000	0.57761	0.313000	0.20887	GTG	.		0.478	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		T	38305844	G	T	38305844	3	4	31	1	0	0	0	0	1	0	0	0	17902	1377	48	3	61	3	ZNF33A	10	38305844	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	797776	38305844	97228903	1393	6945											
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	43609034	43609034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggggacacgagcctgGggagccccgggggattaaag	19	8	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:43609034G>T	ENST00000355710.3	+	10	2022	c.1790G>T	c.(1789-1791)gGg>gTg	p.G597V	RET_ENST00000340058.5_Missense_Mutation_p.G597V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	597					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)	p.G592_G607del(1)	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)	CACGAGCCTGGGGAGCCCCGG	0.647		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.G597V	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"	.	RET-4507	1	Deletion - In frame(1)	thyroid(1)	c.G1790T						.						27	29	28					10																	43609034		2202	4300	6502	SO:0001583	missense	5979	exon10	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	AGCCTGGGGAGCC	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.1790G>T	10.37:g.43609034G>T	ENSP00000347942:p.Gly597Val	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	33	14	NM_020630	0	0	0	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905397	0.33628	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98474	-1.16;-4.95;-1.28	4.92	4.0	0.46444	.	0.047539	0.85682	D	0.000000	D	0.98438	0.9480	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98463	1.0597	10	0.72032	D	0.01	.	7.8599	0.29504	0.086:0.0:0.7507:0.1634	.	343;597;597	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	597;114;597	ENSP00000347942:G597V;ENSP00000419080:G114V;ENSP00000344798:G597V	ENSP00000344798:G597V	G	+	2	0	RET	42929040	1.000000	0.71417	0.954000	0.39281	0.005000	0.04900	4.875000	0.63072	1.037000	0.40024	0.563000	0.77884	GGG	.		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43609034	G	T	43609034	3	4	31	1	0	0	0	0	1	0	0	0	13280	1232	43	3	1828	3	RET	10	43609034	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5303190	43609034	91925713	1394	6946											
RASGEF1A	221002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	43692433	43692433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagccctcaccttcctcgcTgtagatgggcgccgtgagca	12	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:43692433T>A	ENST00000395809.1	-	11	3845	c.1339A>T	c.(1339-1341)Agc>Tgc	p.S447C	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.S447C|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.S455C			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	447	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCTTCCTCGCTGTAGATGGGC	0.582																																					p.S447C		.											.	RASGEF1A-227	0			c.A1339T						.						153	114	127					10																	43692433		2203	4300	6503	SO:0001583	missense	221002	exon11			CCTCGCTGTAGAT	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1339A>T	10.37:g.43692433T>A	ENSP00000379154:p.Ser447Cys	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	150	62	NM_145313	0	0	0	0	0	Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176070	0.78564	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.35236	1.32;1.32;1.32	5.08	5.08	0.68730	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.065737	0.64402	D	0.000005	T	0.58047	0.2095	M	0.71036	2.16	0.42677	D	0.993533	D;D	0.65815	0.992;0.995	P;D	0.66497	0.88;0.944	T	0.63897	-0.6533	10	0.87932	D	0	.	15.1349	0.72555	0.0:0.0:0.0:1.0	.	447;455	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	C	455;447;447	ENSP00000363583:S455C;ENSP00000379155:S447C;ENSP00000379154:S447C	ENSP00000363583:S455C	S	-	1	0	RASGEF1A	43012439	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.730000	0.68546	2.033000	0.60031	0.533000	0.62120	AGC	.		0.582	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		A	43692433	T	A	43692433	3	1	31	1	0	0	0	0	1	0	0	0	13114	1580	55	5	118	5	RASGEF1A	10	43692433	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	83399	43692433	91842314	1395	6947											
PPYR1	5540	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	47087507	47087507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgcatctaccggcgcctgCagaggcaggggcgcgtgttt	15	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:47087507C>A	ENST00000395716.1	+	2	809	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	NPY4R_ENST00000374312.1_Missense_Mutation_p.Q242K			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	242					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)										CCGGCGCCTGCAGAGGCAGGG	0.597																																					p.Q242K		.											.	PPYR1-524	0			c.C724A						.						152	126	135					10																	47087507		2203	4300	6503	SO:0001583	missense	5540	exon3			CGCCTGCAGAGGC		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.724C>A	10.37:g.47087507C>A	ENSP00000379066:p.Gln242Lys	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	131	28	NM_005972	0	0	0	0	0	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	1.302	-0.604675	0.03717	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.35048	1.33;1.33	5.12	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.412407	0.26514	N	0.023957	T	0.15305	0.0369	N	0.03324	-0.35	0.40897	D	0.984125	B	0.09022	0.002	B	0.09377	0.004	T	0.07888	-1.0749	10	0.10636	T	0.68	.	12.6649	0.56835	0.2944:0.7056:0.0:0.0	.	242	P50391	NPY4R_HUMAN	K	242	ENSP00000363431:Q242K;ENSP00000379066:Q242K	ENSP00000363431:Q242K	Q	+	1	0	PPYR1	46507513	0.995000	0.38212	0.997000	0.53966	0.237000	0.25408	1.457000	0.35212	1.291000	0.44653	0.609000	0.83330	CAG	.		0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			A	47087507	C	A	47087507	3	1	31	1	0	0	0	0	1	0	0	0	12458	711	25	3	726	3	PPYR1	10	47087507	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3395074	47087507	88447240	1396	6948											
ARHGAP22	58504	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	49658873	49658873	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgatagggacctcggctgCcggaaggaggacttccaact	13	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49658873C>G	ENST00000249601.4	-	9	1595	c.1299G>C	c.(1297-1299)cgG>cgC	p.R433R	ARHGAP22_ENST00000477708.2_Silent_p.R266R|ARHGAP22_ENST00000374172.1_Silent_p.R324R|ARHGAP22_ENST00000374170.1_Silent_p.R274R|ARHGAP22_ENST00000417912.2_Silent_p.R449R|ARHGAP22_ENST00000435790.2_Silent_p.R439R|ARHGAP22_ENST00000417247.2_Silent_p.R343R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	433	Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTCGGCTGCCGGAAGGAGG	0.682																																					p.R449R		.											.	ARHGAP22-228	0			c.G1347C						.						17	16	17					10																	49658873		2192	4292	6484	SO:0001819	synonymous_variant	58504	exon9			CGGCTGCCGGAAG	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1299G>C	10.37:g.49658873C>G		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	186	68	NM_001256024	0	0	0	0	0	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	CCDS7227.1																																																																																			.		0.682	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		G	49658873	C	G	49658873	2	3	31	1	0	0	0	0	0	0	0	1	872	726	26	3		3	ARHGAP22	10	49658873	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2571366	49658873	85875874	1397	6949											
C10orf71	118461	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	50530784	50530784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcacccgacaggtgtttgGgacttttcaccagagaacag	10	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50530784G>T	ENST00000374144.3	+	3	482	c.194G>T	c.(193-195)gGg>gTg	p.G65V	C10orf71_ENST00000323868.4_Missense_Mutation_p.G65V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	65										endometrium(1)	1						CAGGTGTTTGGGACTTTTCAC	0.572																																					p.G65V		.											.	C10orf71-90	0			c.G194T						.						56	60	59					10																	50530784		1982	4149	6131	SO:0001583	missense	118461	exon3			TGTTTGGGACTTT	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.194G>T	10.37:g.50530784G>T	ENSP00000363259:p.Gly65Val	Somatic	247	1		WXS	Illumina GAIIx	Phase_I	264	92	NM_001135196	0	0	0	0	0	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533437	0.27387	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.18174	2.23;3.36	5.13	5.13	0.70059	.	0.000000	0.51477	D	0.000085	T	0.37598	0.1009	L	0.59436	1.845	0.20926	N	0.999824	D	0.76494	0.999	D	0.76575	0.988	T	0.11494	-1.0585	10	0.62326	D	0.03	.	14.2323	0.65901	0.0:0.2676:0.7324:0.0	.	65	Q711Q0-3	.	V	65	ENSP00000318713:G65V;ENSP00000363259:G65V	ENSP00000318713:G65V	G	+	2	0	C10orf71	50200790	0.099000	0.21834	0.079000	0.20413	0.206000	0.24218	1.439000	0.35013	2.396000	0.81511	0.557000	0.71058	GGG	.		0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50530784	G	T	50530784	3	4	31	1	0	0	0	0	1	0	0	0	1619	1232	43	3	196	3	C10orf71	10	50530784	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	871911	50530784	85003963	1398	6950											
C10orf71	118461	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr10	50532949	50532949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtactgtgccttaagcaatGggcacgcatgcctggaaaac	11	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50532949G>T	ENST00000374144.3	+	3	2647	c.2359G>T	c.(2359-2361)Ggg>Tgg	p.G787W	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	787										endometrium(1)	1						CTTAAGCAATGGGCACGCATG	0.532																																					p.G787W		.											.	C10orf71-90	0			c.G2359T						.						88	84	85					10																	50532949		692	1591	2283	SO:0001583	missense	118461	exon3			AGCAATGGGCACG	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.2359G>T	10.37:g.50532949G>T	ENSP00000363259:p.Gly787Trp	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	197	68	NM_001135196	0	0	0	0	0	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351744	0.41700	.	.	ENSG00000177354	ENST00000374144	T	0.05513	3.43	5.16	4.25	0.50352	.	0.518932	0.14424	U	0.320424	T	0.07324	0.0185	L	0.27053	0.805	0.18873	N	0.999984	.	.	.	.	.	.	T	0.28713	-1.0035	8	0.87932	D	0	.	8.627	0.33895	0.0:0.266:0.511:0.223	.	.	.	.	W	787	ENSP00000363259:G787W	ENSP00000363259:G787W	G	+	1	0	C10orf71	50202955	0.417000	0.25432	0.009000	0.14445	0.033000	0.12548	1.368000	0.34216	1.152000	0.42452	0.467000	0.42956	GGG	.		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50532949	G	T	50532949	3	4	31	1	0	0	0	0	1	0	0	0	1619	1348	47	3	2361	3	C10orf71	10	50532949	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2165	50532949	85001798	1399	6951											
C10orf71	118461	bcgsc.ca	37	chr10	50534259	50534259	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacagcaaaggccgctgtgCcccagagagaggccccgaca	12	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50534259C>A	ENST00000374144.3	+	3	3957	c.3669C>A	c.(3667-3669)tgC>tgA	p.C1223*	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1223										endometrium(1)	1						GGCCGCTGTGCCCCAGAGAGA	0.657																																					p.C1223X		.											.	C10orf71-90	0			c.C3669A						.						6	9	8					10																	50534259		685	1569	2254	SO:0001587	stop_gained	118461	exon3			GCTGTGCCCCAGA	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.3669C>A	10.37:g.50534259C>A	ENSP00000363259:p.Cys1223*	Somatic	173	2		WXS	Illumina GAIIx	Phase_I	221	80	NM_001135196	0	0	0	0	0	A0AVL8	Nonsense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	41	8.615974	0.98886	.	.	ENSG00000177354	ENST00000374144	.	.	.	5.51	0.342	0.15996	.	0.656368	0.12658	N	0.449896	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.764	0.05315	0.3333:0.3059:0.0:0.3608	.	.	.	.	X	1223	.	ENSP00000363259:C1223X	C	+	3	2	C10orf71	50204265	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	-0.115000	0.10741	0.013000	0.14918	-0.439000	0.05793	TGC	.		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50534259	C	A	50534259	4	1	31	1	0	0	0	0	0	1	0	0	1619	747	26	3	3671	3	C10orf71	10	50534259	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1310	50534259	85000488	1400	6952											
SLC18A3	6572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	50819769	50819769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttccgagtgggagatggGcatggcctggctgccggcct	18	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50819769G>T	ENST00000374115.3	+	1	1423	c.983G>T	c.(982-984)gGc>gTc	p.G328V	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	328					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGGAGATGGGCATGGCCTGG	0.667																																					p.G328V		.											.	SLC18A3-92	0			c.G983T						.						71	71	71					10																	50819769		2203	4300	6503	SO:0001583	missense	6572	exon1			AGATGGGCATGGC	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.983G>T	10.37:g.50819769G>T	ENSP00000363229:p.Gly328Val	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	59	17	NM_003055	0	0	0	0	0	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553913	0.86231	.	.	ENSG00000187714	ENST00000374115	T	0.61158	0.13	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.82829	0.5122	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87720	0.2572	10	0.87932	D	0	1.7678	18.6285	0.91350	0.0:0.0:1.0:0.0	.	328	Q16572	VACHT_HUMAN	V	328	ENSP00000363229:G328V	ENSP00000363229:G328V	G	+	2	0	SLC18A3	50489775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.817000	0.99352	2.412000	0.81896	0.561000	0.74099	GGC	.		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		T	50819769	G	T	50819769	3	4	31	1	0	0	0	0	1	0	0	0	14472	1203	42	3	985	3	SLC18A3	10	50819769	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	285510	50819769	84714978	1401	6953											
CHAT	1103	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	50854688	50854688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggctacagcaagaacGgggccaatcgctggtacgac	15	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50854688G>C	ENST00000337653.2	+	8	1402	c.1249G>C	c.(1249-1251)Ggg>Cgg	p.G417R	CHAT_ENST00000339797.1_Missense_Mutation_p.G299R|CHAT_ENST00000351556.3_Missense_Mutation_p.G299R|CHAT_ENST00000395559.2_Missense_Mutation_p.G299R|CHAT_ENST00000455728.2_Missense_Mutation_p.G299R|CHAT_ENST00000395562.2_Missense_Mutation_p.G335R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	417					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAGCAAGAACGGGGCCAATCG	0.642																																					p.G417R		.											.	CHAT-514	0			c.G1249C						.						78	67	71					10																	50854688		2203	4300	6503	SO:0001583	missense	1103	exon8			AAGAACGGGGCCA	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1249G>C	10.37:g.50854688G>C	ENSP00000337103:p.Gly417Arg	Somatic	235	0		WXS	Illumina GAIIx	Phase_I	273	86	NM_020549	0	0	0	0	0	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458951	0.84317	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.46	5.46	0.80206	.	0.110722	0.64402	D	0.000005	D	0.95918	0.8671	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95761	0.8800	10	0.54805	T	0.06	-28.1281	19.2976	0.94129	0.0:0.0:1.0:0.0	.	299;417	F8W8I2;P28329	.;CLAT_HUMAN	R	299;299;299;417;335;299	ENSP00000343486:G299R;ENSP00000345878:G299R;ENSP00000378926:G299R;ENSP00000337103:G417R;ENSP00000378929:G335R;ENSP00000390521:G299R	ENSP00000337103:G417R	G	+	1	0	CHAT	50524694	1.000000	0.71417	0.886000	0.34754	0.812000	0.45895	5.956000	0.70315	2.569000	0.86673	0.655000	0.94253	GGG	.		0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		C	50854688	G	C	50854688	3	2	31	1	0	0	0	0	1	0	0	0	3320	1116	39	2	1323	2	CHAT	10	50854688	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	34919	50854688	84680059	1402	6954											
PARG	8505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	51040918	51040918	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccactgcagaaagattctCtgaagaaactccaggacgga	11	10	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:51040918C>A	ENST00000402038.3	-	12	1122	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	PARG_ENST00000492350.1_5'UTR	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	860	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		GAAAGATTCTCTGAAGAAACT	0.448																																					p.E860X		.											.	PARG-948	0			c.G2578T						.						73	69	70					10																	51040918		692	1591	2283	SO:0001587	stop_gained	8505	exon16			GATTCTCTGAAGA	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1123G>T	10.37:g.51040918C>A	ENSP00000384408:p.Glu375*	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	163	52	NM_003631	0	0	0	0	0	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Nonsense_Mutation	SNP	ENST00000402038.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961766|3.961766	0.74016|0.74016	.|.	.|.	ENSG00000227345|ENSG00000227345	ENST00000402038|ENST00000432127	.|.	.|.	.|.	5.67|5.67	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51787	.|0.1695	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62478	.|-0.6846	.|3	0.10636|.	T|.	0.68|.	-13.7566|-13.7566	9.1349|9.1349	0.36868|0.36868	0.0:0.5701:0.353:0.0769|0.0:0.5701:0.353:0.0769	.|.	.|.	.|.	.|.	X|H	375|75	.|.	ENSP00000384408:E375X|.	E|Q	-|-	1|3	0|2	PARG|PARG	50710924|50710924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	2.351000|2.351000	0.44071|0.44071	1.389000|1.389000	0.46526|0.46526	-0.176000|-0.176000	0.13171|0.13171	GAG|CAG	.		0.448	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		A	51040918	C	A	51040918	4	1	31	1	0	0	0	0	0	1	0	0	11487	922	32	3	364	3	PARG	10	51040918	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	186230	51040918	84493829	1403	6955											
SGMS1	259230	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	52067049	52067049	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaccaccacaccctggcCaggaggttcatctgggaagc	11	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:52067049C>G	ENST00000361781.2	-	11	2054	c.1095G>C	c.(1093-1095)ctG>ctC	p.L365L	SGMS1_ENST00000429490.1_Silent_p.L196L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	371					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACACCCTGGCCAGGAGGTTCA	0.438																																					p.L365L		.											.	SGMS1-227	0			c.G1095C						.						88	82	84					10																	52067049		2203	4300	6503	SO:0001819	synonymous_variant	259230	exon11			CCTGGCCAGGAGG	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1095G>C	10.37:g.52067049C>G		Somatic	80	2		WXS	Illumina GAIIx	Phase_I	112	54	NM_147156	0	0	0	0	0	Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	CCDS7240.1																																																																																			.		0.438	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		G	52067049	C	G	52067049	2	3	31	1	0	0	0	0	0	0	0	1	14259	581	21	3		3	SGMS1	10	52067049	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1026131	52067049	83467698	1404	6956											
A1CF	29974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	52573773	52573773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgccaaatagccacggccGcccagtcctctcactcccgc	7	19	1	0	rs377560793		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:52573773G>T	ENST00000373993.1	-	8	1235	c.1191C>A	c.(1189-1191)ggC>ggA	p.G397G	A1CF_ENST00000373995.3_Silent_p.G397G|A1CF_ENST00000282641.2_Silent_p.G397G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Silent_p.G390G|A1CF_ENST00000373997.3_Silent_p.G389G|A1CF_ENST00000395495.1_Silent_p.G342G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.2_Silent_p.G389G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	397	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				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						AGCCACGGCCGCCCAGTCCTC	0.483																																					p.G405G		.											.	A1CF-68	0			c.C1215A						.						78	80	80					10																	52573773		2203	4300	6503	SO:0001819	synonymous_variant	29974	exon12			ACGGCCGCCCAGT	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.1191C>A	10.37:g.52573773G>T		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	93	32	NM_001198819	0	0	0	0	0	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	CCDS7242.1																																																																																			.		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		T	52573773	G	T	52573773	2	4	31	1	0	0	0	0	0	0	0	1	2	1074	38	2		2	A1CF	10	52573773	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	506724	52573773	82960974	1405	6957											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	56106181	56106181	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtccatttggtccatcatCtatatctgtagctccattgt	6	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:56106181C>G	ENST00000320301.6	-	6	932	c.538G>C	c.(538-540)Gat>Cat	p.D180H	PCDH15_ENST00000395445.1_Missense_Mutation_p.D180H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.D180H|PCDH15_ENST00000373965.2_Missense_Mutation_p.D180H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D185H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D180H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395446.1_Missense_Mutation_p.D180H|PCDH15_ENST00000373957.3_Missense_Mutation_p.D158H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D180H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D180H|PCDH15_ENST00000395442.1_Missense_Mutation_p.D180H|PCDH15_ENST00000373955.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D158H|AC013737.1_ENST00000583830.1_RNA	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTCCATCATCTATATCTGTA	0.323										HNSCC(58;0.16)																											p.D185H		.											.	PCDH15-193	0			c.G553C						.						142	143	142					10																	56106181		2203	4299	6502	SO:0001583	missense	65217	exon7			CATCATCTATATC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.538G>C	10.37:g.56106181C>G	ENSP00000322604:p.Asp180His	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	75	15	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612047	0.87258	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;1.5;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92001	0.7466	H	0.98507	4.25	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.95008	0.8149	9	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	158;180;180;185;180;180;180;180;180;180;180;185;180;158;180	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	180;185;180;180;180;180;180;180;180;180;158;158;180;180;185;180;180	ENSP00000363076:D180H;ENSP00000410304:D185H;ENSP00000378826:D180H;ENSP00000378832:D180H;ENSP00000378833:D180H;ENSP00000378829:D180H;ENSP00000378827:D180H;ENSP00000378820:D180H;ENSP00000354950:D180H;ENSP00000378821:D158H;ENSP00000363068:D158H;ENSP00000322604:D180H;ENSP00000378818:D180H;ENSP00000412628:D180H;ENSP00000363066:D180H	ENSP00000322604:D180H	D	-	1	0	PCDH15	55776187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.137000	0.77295	2.514000	0.84764	0.650000	0.86243	GAT	.		0.323	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	56106181	C	G	56106181	3	3	31	1	0	0	0	0	1	0	0	0	11550	913	32	3	7085	3	PCDH15	10	56106181	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3532408	56106181	79428566	1406	6958											
BICC1	80114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	60562966	60562966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaactccgaaagggcCcaccttgctccacggtcatc	8	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:60562966C>T	ENST00000373886.3	+	15	2149	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	BICC1_ENST00000263103.1_Silent_p.A341A	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	715					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCGAAAGGGCCCACCTTGCTC	0.502																																					p.A715A		.											.	BICC1-72	0			c.C2145T						.						48	48	48					10																	60562966		2203	4300	6503	SO:0001819	synonymous_variant	80114	exon15			AAGGGCCCACCTT	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2145C>T	10.37:g.60562966C>T		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	108	26	NM_001080512	0	0	0	0	0		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																			.		0.502	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		T	60562966	C	T	60562966	2	4	31	1	0	0	0	0	0	0	0	1	1429	610	22	3		3	BICC1	10	60562966	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4456785	60562966	74971781	1407	6959											
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	61029737	61029737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctggctttggctgaagatgGagcatcgtggcgacagcagt	15	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61029737G>T	ENST00000373868.2	-	7	812	c.725C>A	c.(724-726)tCc>tAc	p.S242Y	FAM13C_ENST00000419214.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000435852.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000277705.6_Missense_Mutation_p.S263Y|FAM13C_ENST00000442566.3_Missense_Mutation_p.S263Y|FAM13C_ENST00000422313.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000373867.3_Missense_Mutation_p.S159Y|FAM13C_ENST00000468840.2_Missense_Mutation_p.S159Y	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	242										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGAAGATGGAGCATCGTGG	0.522																																					p.S242Y		.											.	FAM13C-70	0			c.C725A						.						101	91	94					10																	61029737		2203	4300	6503	SO:0001583	missense	220965	exon7			AAGATGGAGCATC	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.725C>A	10.37:g.61029737G>T	ENSP00000362975:p.Ser242Tyr	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	130	53	NM_198215	0	0	0	0	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383925	0.82792	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;0.92;-1.12;-1.12;-1.12;-1.12	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.80944	0.4721	L	0.31845	0.965	0.48975	D	0.999731	D;D;D;D;D	0.89917	1.0;0.99;0.999;0.988;0.999	D;P;D;D;D	0.71656	0.974;0.906;0.971;0.912;0.962	T	0.73254	-0.4041	10	0.06891	T	0.86	-3.7849	19.7156	0.96119	0.0:0.0:1.0:0.0	.	242;159;242;242;242	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Y	159;242;263;263;242;159;242;242;20	ENSP00000362974:S159Y;ENSP00000362975:S242Y;ENSP00000395661:S263Y;ENSP00000277705:S263Y;ENSP00000391993:S242Y;ENSP00000423896:S159Y;ENSP00000392302:S242Y;ENSP00000400241:S242Y;ENSP00000445068:S20Y	ENSP00000277705:S263Y	S	-	2	0	FAM13C	60699743	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.055000	0.76656	2.658000	0.90341	0.655000	0.94253	TCC	.		0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			T	61029737	G	T	61029737	3	4	31	1	0	0	0	0	1	0	0	0	5473	1174	41	3	1064	3	FAM13C	10	61029737	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	466771	61029737	74505010	1408	6960											
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	61112192	61112192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcgcgtgctcttctacCagagcccctgcgtcggggta	15	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61112192C>A	ENST00000373868.2	-	3	249	c.162G>T	c.(160-162)ctG>ctT	p.L54L	FAM13C_ENST00000419214.2_Silent_p.L54L|FAM13C_ENST00000435852.2_Silent_p.L54L|FAM13C_ENST00000277705.6_Silent_p.L54L|FAM13C_ENST00000442566.3_Silent_p.L54L|FAM13C_ENST00000422313.2_Silent_p.L54L|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000468840.2_5'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	54										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCTTCTACCAGAGCCCCTG	0.502																																					p.L54L		.											.	FAM13C-70	0			c.G162T						.						30	33	32					10																	61112192		2203	4300	6503	SO:0001819	synonymous_variant	220965	exon3			TTCTACCAGAGCC	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.162G>T	10.37:g.61112192C>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	33	8	NM_198215	0	0	0	0	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	CCDS7255.1																																																																																			.		0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			A	61112192	C	A	61112192	2	1	31	1	0	0	0	0	0	0	0	1	5473	581	21	3		3	FAM13C	10	61112192	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	82455	61112192	74422555	1409	6961											
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	61815615	61815615	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcttcaacatgaccagatCcatgtatttttggtttcaga	7	8	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61815615C>G	ENST00000280772.2	-	42	13057	c.12866G>C	c.(12865-12867)gGa>gCa	p.G4289A	ANK3_ENST00000503366.1_Missense_Mutation_p.G1780A|ANK3_ENST00000355288.2_Missense_Mutation_p.G913A|ANK3_ENST00000373827.2_Missense_Mutation_p.G1773A|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4289					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						ATGACCAGATCCATGTATTTT	0.388																																					p.G4289A		.											.	ANK3-107	0			c.G12866C						.						255	243	247					10																	61815615		2203	4300	6503	SO:0001583	missense	288	exon42			CCAGATCCATGTA	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.12866G>C	10.37:g.61815615C>G	ENSP00000280772:p.Gly4289Ala	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	111	47	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	9.020	0.984648	0.18889	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.77489	-0.11;-0.44;-1.1;0.74;0.33;-0.43	6.03	2.1	0.27182	.	0.177369	0.26983	N	0.021516	T	0.61540	0.2355	L	0.27053	0.805	0.09310	N	0.999996	B;B;B;B;B;B;B	0.30664	0.043;0.043;0.043;0.289;0.073;0.043;0.0	B;B;B;B;B;B;B	0.34779	0.004;0.01;0.006;0.189;0.023;0.01;0.0	T	0.47661	-0.9100	10	0.23891	T	0.37	.	5.2886	0.15716	0.3552:0.3744:0.2098:0.0606	.	1780;913;1773;4289;1014;913;312	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	A	4289;1773;371;61;913;1780;1759;1014	ENSP00000280772:G4289A;ENSP00000362933:G1773A;ENSP00000362926:G371A;ENSP00000423057:G61A;ENSP00000347436:G913A;ENSP00000425236:G1780A	ENSP00000280772:G4289A	G	-	2	0	ANK3	61485621	0.951000	0.32395	0.289000	0.24876	0.827000	0.46813	0.634000	0.24614	0.140000	0.18849	-0.226000	0.12346	GGA	.		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61815615	C	G	61815615	3	3	31	1	0	0	0	0	1	0	0	0	622	855	30	3	275	3	ANK3	10	61815615	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	703423	61815615	73719132	1410	6962											
CTNNA3	29119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	68139070	68139071	+	Missense_Mutation	DNP	GG	GG	TT													tcagcatcctggtctcttaaGgctatgatacacttgttgac							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:68139070_68139071GG>TT	ENST00000433211.2	-	12	1745_1746	c.1571_1572CC>AA	c.(1570-1572)gCC>gAA	p.A524E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A524E	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						GGTCTCTTAAGGCTATGATACA	0.421																																					p.A524E		.											.	CTNNA3-234	0			c.C1571A						.																																			SO:0001583	missense	29119	exon12			CTTAAGGCTATGA	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.1571_1572delinsTT	10.37:g.68139070_68139071delinsTT	ENSP00000389714:p.Ala524Glu	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	123	7	NM_013266	0	0	0	0	0		Missense_Mutation	DNP	ENST00000433211.2	37	CCDS7269.1																																																																																			.		0.421	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		TT	68139071	GG	TT	68139070	3	4	31	1	0	0	0	0	1	0	0	0	4023	987	35	3	1143	3	CTNNA3	10	68139070	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	6323455	68139070	67395677	1411	6963											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70450767	70450767	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgacgcaacagcctcAtgcgggttttcagaaagaag	11	8	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:70450767A>T	ENST00000373644.4	+	12	5816	c.5607A>T	c.(5605-5607)tcA>tcT	p.S1869S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1869					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAACAGCCTCATGCGGGTTTT	0.572																																					p.S1869S		.											.	TET1-663	0			c.A5607T						.						80	72	75					10																	70450767		2203	4300	6503	SO:0001819	synonymous_variant	80312	exon12			AGCCTCATGCGGG	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5607A>T	10.37:g.70450767A>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	96	26	NM_030625	0	0	0	0	0	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																			.		0.572	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70450767	A	T	70450767	2	4	31	1	0	0	0	0	0	0	0	1	15816	204	8	5		5	TET1	10	70450767	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2311697	70450767	65083980	1412	6964											
STOX1	219736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70644278	70644278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccatatcccactgtcaGtcttgccagtgtttccggga	9	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:70644278G>T	ENST00000298596.6	+	3	809	c.726G>T	c.(724-726)caG>caT	p.Q242H	STOX1_ENST00000399169.4_Missense_Mutation_p.Q242H|STOX1_ENST00000421961.2_Missense_Mutation_p.Q132H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	242						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCCACTGTCAGTCTTGCCAGT	0.532																																					p.Q242H		.											.	STOX1-92	0			c.G726T						.						77	77	77					10																	70644278		2031	4188	6219	SO:0001583	missense	219736	exon3			CTGTCAGTCTTGC	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.726G>T	10.37:g.70644278G>T	ENSP00000298596:p.Gln242His	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	109	46	NM_152709	0	0	0	0	0	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	3.471	-0.107935	0.06924	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74106	-0.81;-0.81;-0.48	5.57	-1.02	0.10135	.	0.142736	0.44483	U	0.000455	T	0.48677	0.1513	N	0.17674	0.51	0.23882	N	0.996577	B	0.10296	0.003	B	0.04013	0.001	T	0.17992	-1.0351	10	0.34782	T	0.22	.	1.0841	0.01649	0.2096:0.2031:0.368:0.2193	.	242	Q6ZVD7	STOX1_HUMAN	H	242;242;132	ENSP00000382121:Q242H;ENSP00000298596:Q242H;ENSP00000394509:Q132H	ENSP00000298596:Q242H	Q	+	3	2	STOX1	70314284	1.000000	0.71417	0.134000	0.22075	0.014000	0.08584	0.855000	0.27805	-0.190000	0.10465	0.591000	0.81541	CAG	.		0.532	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		T	70644278	G	T	70644278	3	4	31	1	0	0	0	0	1	0	0	0	15366	1020	36	3	736	3	STOX1	10	70644278	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	193511	70644278	64890469	1413	6965											
COL13A1	1305	broad.mit.edu;bcgsc.ca	37	chr10	71658494	71658494	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgactggctccacccccGgtcataaaaaggcggacgtt	12	13	1	0	rs538730570		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:71658494G>T	ENST00000398978.3	+	14	1248	c.756G>T	c.(754-756)ccG>ccT	p.P252P	COL13A1_ENST00000398968.3_Silent_p.P233P|COL13A1_ENST00000520267.1_Silent_p.P195P|COL13A1_ENST00000398974.3_Silent_p.P240P|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000356340.3_Silent_p.P252P|COL13A1_ENST00000398973.3_Silent_p.P252P|COL13A1_ENST00000398972.3_Silent_p.P252P|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398969.3_Silent_p.P195P|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Silent_p.P223P|COL13A1_ENST00000398971.3_Silent_p.P252P|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000522165.1_Silent_p.P233P|COL13A1_ENST00000357811.3_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTCCACCCCCGGTCATAAAAA	0.572																																					p.P252P		.											.	COL13A1-91	0			c.G756T						.						79	77	78					10																	71658494		2013	4157	6170	SO:0001819	synonymous_variant	1305	exon14			ACCCCCGGTCATA	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.756G>T	10.37:g.71658494G>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	12	NM_001130103	0	0	0	0	0		Silent	SNP	ENST00000398978.3	37	CCDS44419.1																																																																																			.		0.572	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		T	71658494	G	T	71658494	2	4	31	1	0	0	0	0	0	0	0	1	3677	1103	39	2		2	COL13A1	10	71658494	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1014216	71658494	63876253	1414	6966											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73326680	73326680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggcctaccagctcaCggtcaacgccacagtgagtc	9	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73326680C>A	ENST00000224721.6	+	6	631	c.626C>A	c.(625-627)aCg>aAg	p.T209K	CDH23_ENST00000461841.3_Missense_Mutation_p.T249K|CDH23_ENST00000398809.4_Missense_Mutation_p.T204K|CDH23_ENST00000398842.3_Missense_Mutation_p.T204K|CDH23_ENST00000299366.7_Missense_Mutation_p.T249K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	204	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TACCAGCTCACGGTCAACGCC	0.622																																					p.T204K		.											.	CDH23-563	0			c.C611A						.						36	38	37					10																	73326680		2056	4180	6236	SO:0001583	missense	64072	exon7			AGCTCACGGTCAA	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.626C>A	10.37:g.73326680C>A	ENSP00000224721:p.Thr209Lys	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	29	22	NM_052836	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.040388	0.55003	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.02446	4.29;4.29	5.6	3.48	0.39840	Cadherin (5);Cadherin-like (1);	0.193410	0.30752	N	0.008945	T	0.03053	0.0090	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.49358	0.701;0.869;0.799;0.923	B;B;B;B	0.42386	0.127;0.386;0.151;0.316	T	0.41592	-0.9500	10	0.02654	T	1	.	6.0485	0.19773	0.3955:0.5066:0.0:0.0979	.	204;204;204;204	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	K	209;204;204;204;204;209;209;145	ENSP00000381789:T204K;ENSP00000381822:T204K	ENSP00000224721:T209K	T	+	2	0	CDH23	72996686	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	3.859000	0.55987	2.653000	0.90120	0.561000	0.74099	ACG	.		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73326680	C	A	73326680	3	1	31	1	0	0	0	0	1	0	0	0	3115	536	19	2	633	2	CDH23	10	73326680	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1668186	73326680	62208067	1415	6967											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73405591	73405591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcttgacccagggcCtgaacagcatgtttgaggtg	12	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73405591C>A	ENST00000224721.6	+	12	1164	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	CDH23_ENST00000461841.3_Missense_Mutation_p.L427M|CDH23_ENST00000398809.4_Missense_Mutation_p.L382M|CDH23_ENST00000398842.3_Missense_Mutation_p.L382M|CDH23_ENST00000299366.7_Missense_Mutation_p.L427M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCCAGGGCCTGAACAGCAT	0.577																																					p.L382M		.											.	CDH23-563	0			c.C1144A						.						58	62	61					10																	73405591		2073	4214	6287	SO:0001583	missense	64072	exon12			CAGGGCCTGAACA	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.1159C>A	10.37:g.73405591C>A	ENSP00000224721:p.Leu387Met	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	237	96	NM_052836	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.317138	0.60524	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.61627	0.62;0.09	4.91	3.02	0.34903	Cadherin (3);Cadherin-like (1);	0.273596	0.25192	N	0.032453	T	0.53029	0.1771	L	0.31157	0.91	0.80722	D	1	P;D	0.53151	0.836;0.958	P;P	0.54312	0.519;0.748	T	0.46233	-0.9206	10	0.32370	T	0.25	.	9.0143	0.36159	0.0:0.7691:0.0:0.2309	.	382;382	Q9H251;Q9H251-5	CAD23_HUMAN;.	M	387;382;382;382;382;385;385;297	ENSP00000381789:L382M;ENSP00000381822:L382M	ENSP00000224721:L387M	L	+	1	2	CDH23	73075597	0.999000	0.42202	1.000000	0.80357	0.931000	0.56810	1.782000	0.38654	1.068000	0.40764	0.561000	0.74099	CTG	.		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73405591	C	A	73405591	3	1	31	1	0	0	0	0	1	0	0	0	3115	680	24	3	1273	3	CDH23	10	73405591	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	78911	73405591	62129156	1416	6968											
CDH23	64072	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	73447457	73447457	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcctacttcgtctccgtGgtggagaacatcatggcagg	12	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73447457G>T	ENST00000224721.6	+	18	2060	c.2055G>T	c.(2053-2055)gtG>gtT	p.V685V	CDH23_ENST00000299366.7_Silent_p.V725V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	680	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCGTCTCCGTGGTGGAGAACA	0.627																																					p.V680V		.											.	CDH23-563	0			c.G2040T						.						42	46	45					10																	73447457		2066	4208	6274	SO:0001819	synonymous_variant	64072	exon18			CTCCGTGGTGGAG	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.2055G>T	10.37:g.73447457G>T		Somatic	103	1		WXS	Illumina GAIIx	Phase_I	129	29	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				.		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73447457	G	T	73447457	2	4	31	1	0	0	0	0	0	0	0	1	3115	1335	47	3		3	CDH23	10	73447457	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	41866	73447457	62087290	1417	6969											
CHST3	9469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73766985	73766985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagcagatgccaacagcaccGacccagccctgatcttagct	8	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73766985G>T	ENST00000373115.4	+	3	633	c.196G>T	c.(196-198)Gac>Tac	p.D66Y		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	66					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAACAGCACCGACCCAGCCCT	0.567																																					p.D66Y		.											.	CHST3-90	0			c.G196T						.						95	89	91					10																	73766985		2203	4300	6503	SO:0001583	missense	9469	exon3			AGCACCGACCCAG	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.196G>T	10.37:g.73766985G>T	ENSP00000362207:p.Asp66Tyr	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	105	39	NM_004273	0	0	0	0	0	O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	3.890	-0.024202	0.07634	.	.	ENSG00000122863	ENST00000373115	D	0.96522	-4.04	5.62	3.75	0.43078	.	0.419079	0.26780	N	0.022533	D	0.92799	0.7710	L	0.36672	1.1	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	D	0.86083	0.1545	10	0.72032	D	0.01	-39.0115	11.6258	0.51145	0.1448:0.0:0.8552:0.0	.	66	Q7LGC8	CHST3_HUMAN	Y	66	ENSP00000362207:D66Y	ENSP00000362207:D66Y	D	+	1	0	CHST3	73436991	0.968000	0.33430	0.897000	0.35233	0.011000	0.07611	2.740000	0.47418	0.728000	0.32382	0.655000	0.94253	GAC	.		0.567	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		T	73766985	G	T	73766985	3	4	31	1	0	0	0	0	1	0	0	0	3412	1058	37	2	202	2	CHST3	10	73766985	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	319528	73766985	61767762	1418	6970											
PPP3CB	5532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75239173	75239173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatttcttcatctactcgaCcttctttcaccaagtggttc	4	13	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:75239173C>A	ENST00000360663.5	-	2	299	c.188G>T	c.(187-189)gGt>gTt	p.G63V	PPP3CB_ENST00000394829.2_Missense_Mutation_p.G63V|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G63V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G63V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G63V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	63	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)					ATCTACTCGACCTTCTTTCAC	0.448																																					p.G63V		.											.	PPP3CB-226	0			c.G188T						.						182	173	176					10																	75239173		2203	4300	6503	SO:0001583	missense	5532	exon2			ACTCGACCTTCTT	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.188G>T	10.37:g.75239173C>A	ENSP00000353881:p.Gly63Val	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	107	29	NM_001142354	0	0	0	0	0	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047505	0.93740	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000009	D	0.88058	0.6335	H	0.95780	3.72	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	0.91095	0.4910	10	0.87932	D	0	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	63;63;63;63	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	V	63	ENSP00000353881:G63V;ENSP00000378306:G63V;ENSP00000378305:G63V;ENSP00000343147:G63V;ENSP00000378299:G63V	ENSP00000343147:G63V	G	-	2	0	PPP3CB	74909179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.732000	0.84908	2.661000	0.90470	0.655000	0.94253	GGT	.		0.448	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		A	75239173	C	A	75239173	3	1	31	1	0	0	0	0	1	0	0	0	12440	507	18	3	1441	3	PPP3CB	10	75239173	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1472188	75239173	60295574	1419	6971											
DUSP13	51207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	76861715	76861715	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccgcacacttgatgcTgtttctattttttgatttga	7	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:76861715T>A	ENST00000472493.2	-	0	0				DUSP13_ENST00000491677.2_Missense_Mutation_p.Q99L|DUSP13_ENST00000478873.2_5'Flank|DUSP13_ENST00000605915.1_5'Flank|DUSP13_ENST00000607131.1_Missense_Mutation_p.Q63L|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CACTTGATGCTGTTTCTATTT	0.527																																					p.Q63L	NSCLC(174;1655 2059 12324 40663 42963)	.											.	DUSP13-226	0			c.A188T						.						69	70	70					10																	76861715		2203	4300	6503	SO:0001631	upstream_gene_variant	51207	exon3			TGATGCTGTTTCT	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516		10.37:g.76861715T>A	Exception_encountered	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	56	10	NM_001007273	0	0	0	0	0	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140932	0.37825	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.05925	3.37	4.14	1.74	0.24563	.	1.379220	0.05124	N	0.491197	T	0.05456	0.0144	L	0.27053	0.805	0.80722	D	1	B	0.33694	0.421	B	0.32465	0.146	T	0.25710	-1.0124	10	0.48119	T	0.1	-4.4496	4.1569	0.10265	0.0:0.1076:0.2093:0.683	.	99	F2Z2C4	.	L	99;63	ENSP00000436312:Q99L	ENSP00000361783:Q63L	Q	-	2	0	DUSP13	76531721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.593000	0.23999	0.368000	0.24481	0.533000	0.62120	CAG	.		0.527	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			A	76861715	T	A	76861715	1	1	31	0	1	0	0	0	0	0	0	0	4827	1580	55	5		5	DUSP13	10	76861715	5'Flank	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1622542	76861715	58673032	1420	6972											
RPS24	6229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	79814544	79814544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttttggagagggcactgGtcagaaacggagccttcatg	14	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:79814544G>T	ENST00000440692.1	+	5	788	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAGGGCACTGgtcagaaacgg	0.587																																					p.V216F		.											.	RPS24-91	0			c.G646T						.						139	138	138					10																	79814544		692	1591	2283	SO:0001583	missense	6229	exon5			GCACTGGTCAGAA	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.646G>T	10.37:g.79814544G>T	ENSP00000414321:p.Val216Phe	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	192	82	NM_001142285	0	0	0	0	0	E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	ENST00000440692.1	37	CCDS44443.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829244	0.32329	.	.	ENSG00000138326	ENST00000440692	.	.	.	2.52	2.52	0.30459	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.24318	N	0.995054	D	0.55385	0.971	B	0.44278	0.445	T	0.04885	-1.0920	7	.	.	.	.	8.6869	0.34243	0.0:0.0:1.0:0.0	.	216	E7EPK6	.	F	216	.	.	V	+	1	0	RPS24	79484550	0.425000	0.25498	0.063000	0.19743	0.058000	0.15608	1.609000	0.36858	1.749000	0.51849	0.462000	0.41574	GTC	.		0.587	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026		T	79814544	G	T	79814544	3	4	31	1	0	0	0	0	1	0	0	0	13680	1261	44	3	703	3	RPS24	10	79814544	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2952829	79814544	55720203	1421	6973											
CDHR1	92211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	85961590	85961590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccccatttgccgtggacCgccacagcggtgtgctgcgc	12	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:85961590C>A	ENST00000372117.3	+	7	656	c.553C>A	c.(553-555)Cgc>Agc	p.R185S	CDHR1_ENST00000332904.3_Missense_Mutation_p.R185S|CDHR1_ENST00000440770.2_5'Flank	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCCGTGGACCGCCACAGCGG	0.612																																					p.R185S		.											.	CDHR1-91	0			c.C553A						.						48	51	50					10																	85961590		2203	4300	6503	SO:0001583	missense	92211	exon7			GTGGACCGCCACA	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.553C>A	10.37:g.85961590C>A	ENSP00000361189:p.Arg185Ser	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	33	16	NM_001171971	0	0	0	0	0	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820218	0.32145	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.51071	0.72;0.72	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	0.225617	0.45867	D	0.000331	T	0.38161	0.1030	N	0.04373	-0.215	0.80722	D	1	P;P	0.48589	0.873;0.912	B;P	0.56700	0.446;0.804	T	0.18713	-1.0328	10	0.08179	T	0.78	-5.5634	15.8037	0.78477	0.0:1.0:0.0:0.0	.	185;185	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	S	185	ENSP00000331063:R185S;ENSP00000361189:R185S	ENSP00000331063:R185S	R	+	1	0	CDHR1	85951570	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	2.859000	0.48364	2.531000	0.85337	0.655000	0.94253	CGC	.		0.612	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		A	85961590	C	A	85961590	3	1	31	1	0	0	0	0	1	0	0	0	3125	652	23	2	579	2	CDHR1	10	85961590	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6147046	85961590	49573157	1422	6974											
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	88649911	88649911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagtaaccttagcaccagagGataccttgccttttttaaag	8	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:88649911G>C	ENST00000372037.3	+	4	697	c.160G>C	c.(160-162)Gat>Cat	p.D54H	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	54					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AGCACCAGAGGATACCTTGCC	0.418			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.D54H	Ovarian(190;603 2086 22044 30335 47971)	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	.	BMPR1A-1619	0			c.G160C						.						159	146	151					10																	88649911		2203	4300	6503	SO:0001583	missense	657	exon4	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	CCAGAGGATACCT	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.160G>C	10.37:g.88649911G>C	ENSP00000361107:p.Asp54His	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	234	47	NM_004329	0	0	0	0	0	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696773	0.68386	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.83506	-1.73	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	L	0.27053	0.805	0.80722	D	1	P	0.44429	0.835	P	0.51866	0.682	T	0.82768	-0.0294	10	0.46703	T	0.11	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	54	P36894	BMR1A_HUMAN	H	54	ENSP00000361107:D54H	ENSP00000224764:D54H	D	+	1	0	BMPR1A	88639891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.065000	0.93941	2.861000	0.98227	0.650000	0.86243	GAT	.		0.418	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		C	88649911	G	C	88649911	3	2	31	1	0	0	0	0	1	0	0	0	1471	1174	41	3	166	3	BMPR1A	10	88649911	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2688321	88649911	46884836	1423	6975											
IFIT5	24138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	91177055	91177055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacattgatctgtttgaGgtagaagatacaattgggca	12	4	1	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:91177055G>A	ENST00000371795.4	+	2	312	c.99G>A	c.(97-99)gaG>gaA	p.E33E	IFIT5_ENST00000416601.1_Silent_p.E33E|LIPA_ENST00000371837.1_5'Flank	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	33		Interaction with PPP-RNA.			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						ATCTGTTTGAGGTAGAAGATA	0.368																																					p.E33E		.											.	IFIT5-90	0			c.G99A						.						85	89	88					10																	91177055		2203	4300	6503	SO:0001819	synonymous_variant	24138	exon2			GTTTGAGGTAGAA	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.99G>A	10.37:g.91177055G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	125	40	NM_012420	0	0	0	0	0	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	CCDS7403.1																																																																																			.		0.368	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		A	91177055	G	A	91177055	2	1	31	1	0	0	0	0	0	0	0	1	7552	991	35	3		3	IFIT5	10	91177055	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2527144	91177055	44357692	1424	6976											
IDE	3416	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	94239048	94239048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacatacatcccatagaTggtattttggagatcatagc	7	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:94239048T>C	ENST00000265986.6	-	15	1926	c.1870A>G	c.(1870-1872)Atc>Gtc	p.I624V	IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Missense_Mutation_p.I69V	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	624					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)"	ATCCCATAGATGGTATTTTGG	0.413																																					p.I624V		.											.	IDE-92	0			c.A1870G						.						177	153	161					10																	94239048		2203	4300	6503	SO:0001583	missense	3416	exon15			CATAGATGGTATT	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.1870A>G	10.37:g.94239048T>C	ENSP00000265986:p.Ile624Val	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	77	26	NM_004969	0	0	0	0	0	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	1.474	-0.559160	0.03967	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34472	1.36;1.36	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.169358	0.49305	D	0.000154	T	0.17874	0.0429	N	0.02286	-0.61	0.48341	D	0.999633	B	0.02656	0.0	B	0.01281	0.0	T	0.08411	-1.0723	10	0.30078	T	0.28	-11.1868	15.5248	0.75894	0.0:0.0:0.0:1.0	.	624	P14735	IDE_HUMAN	V	624;69	ENSP00000265986:I624V;ENSP00000360637:I69V	ENSP00000265986:I624V	I	-	1	0	IDE	94229028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.650000	0.46665	2.152000	0.67230	0.533000	0.62120	ATC	.		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		C	94239048	T	C	94239048	3	2	31	1	0	0	0	0	1	0	0	0	7520	1464	51	4	1233	4	IDE	10	94239048	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3061993	94239048	41295699	1425	6977											
ALDH18A1	5832	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	97386505	97386505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttcctccagatcgcgcCatttctccctgctgctcaac	5	18	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:97386505C>A	ENST00000371224.2	-	10	1244	c.1107G>T	c.(1105-1107)atG>atT	p.M369I	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.M367I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	369	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CAGATCGCGCCATTTCTCCCT	0.448																																					p.M369I		.											.	ALDH18A1-117	0			c.G1107T						.						146	114	125					10																	97386505		2203	4300	6503	SO:0001583	missense	5832	exon10			TCGCGCCATTTCT	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1107G>T	10.37:g.97386505C>A	ENSP00000360268:p.Met369Ile	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	97	21	NM_002860	0	0	0	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427587	0.62733	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75367	-0.93;-0.93	5.96	5.96	0.96718	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.102431	0.85682	D	0.000000	T	0.64338	0.2589	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.21360	0.034;0.02	T	0.57294	-0.7836	10	0.38643	T	0.18	-30.313	17.9158	0.88950	0.0:1.0:0.0:0.0	.	369;367	P54886;P54886-2	P5CS_HUMAN;.	I	369;367	ENSP00000360268:M369I;ENSP00000360265:M367I	ENSP00000360265:M367I	M	-	3	0	ALDH18A1	97376495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.096000	0.76960	2.832000	0.97577	0.655000	0.94253	ATG	.		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		A	97386505	C	A	97386505	3	1	31	1	0	0	0	0	1	0	0	0	489	594	21	3	1316	3	ALDH18A1	10	97386505	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3147457	97386505	38148242	1426	6978											
PIK3AP1	118788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	98355338	98355338	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttttaggaggtggaatcagCgtcctctgggtggaacaggt	16	6	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:98355338C>G	ENST00000339364.5	-	17	2533	c.2414G>C	c.(2413-2415)cGc>cCc	p.R805P	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R627P|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R404P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	805					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGGAATCAGCGTCCTCTGGG	0.428																																					p.R805P		.											.	PIK3AP1-519	0			c.G2414C						.						133	121	125					10																	98355338		2203	4300	6503	SO:0001583	missense	118788	exon17			AATCAGCGTCCTC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2414G>C	10.37:g.98355338C>G	ENSP00000339826:p.Arg805Pro	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	180	39	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283160	0.59867	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.38722	2.26;1.6;1.12	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.27053	0.805	0.50632	D	0.999889	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.55095	-0.8194	10	0.87932	D	0	.	15.1861	0.73002	0.0:1.0:0.0:0.0	.	805;404	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	P	805;627;404	ENSP00000339826:R805P;ENSP00000360151:R627P;ENSP00000360150:R404P	ENSP00000339826:R805P	R	-	2	0	PIK3AP1	98345328	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.021000	0.57196	2.659000	0.90383	0.563000	0.77884	CGC	.		0.428	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		G	98355338	C	G	98355338	3	3	31	1	0	0	0	0	1	0	0	0	11947	768	27	2	7	2	PIK3AP1	10	98355338	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	968833	98355338	37179409	1427	6979											
SLIT1	6585	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	98766287	98766287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttgcaggtcagtgaactGcaggtaagtgtcccgatcca	12	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:98766287G>T	ENST00000266058.4	-	32	3777	c.3532C>A	c.(3532-3534)Cag>Aag	p.Q1178K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q1178K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1178	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCAGTGAACTGCAGGTAAGTG	0.612																																					p.Q1178K		.											.	SLIT1-94	0			c.C3532A						.						78	56	63					10																	98766287		2203	4300	6503	SO:0001583	missense	6585	exon32			TGAACTGCAGGTA	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3532C>A	10.37:g.98766287G>T	ENSP00000266058:p.Gln1178Lys	Somatic	212	1		WXS	Illumina GAIIx	Phase_I	229	91	NM_003061	0	0	0	0	0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928738	0.73327	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.68331	-0.32;-0.32	5.19	5.19	0.71726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.063724	0.64402	D	0.000004	T	0.63082	0.2481	L	0.46157	1.445	0.80722	D	1	P	0.39282	0.666	B	0.37601	0.254	T	0.66114	-0.6004	10	0.49607	T	0.09	.	18.9192	0.92518	0.0:0.0:1.0:0.0	.	1178	O75093	SLIT1_HUMAN	K	1178	ENSP00000266058:Q1178K;ENSP00000360109:Q1178K	ENSP00000266058:Q1178K	Q	-	1	0	SLIT1	98756277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.552000	0.73914	2.698000	0.92095	0.655000	0.94253	CAG	.		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		T	98766287	G	T	98766287	3	4	31	1	0	0	0	0	1	0	0	0	14784	1328	46	3	1096	3	SLIT1	10	98766287	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	410949	98766287	36768460	1428	6980											
PYROXD2	84795	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	100143584	100143584	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggtccctaaaggccaCatgtgctgcatttcgcccag	10	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:100143584C>G	ENST00000370575.4	-	16	1765	c.1717G>C	c.(1717-1719)Gtg>Ctg	p.V573L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	573							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTAAAGGCCACATGTGCTGCA	0.557																																					p.V573L		.											.	PYROXD2-90	0			c.G1717C						.						194	183	187					10																	100143584		2203	4300	6503	SO:0001583	missense	84795	exon16			AGGCCACATGTGC	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1717G>C	10.37:g.100143584C>G	ENSP00000359607:p.Val573Leu	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	102	41	NM_032709	0	0	0	0	0	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	5.426	0.263811	0.10294	.	.	ENSG00000119943	ENST00000370575	T	0.40756	1.02	5.39	2.52	0.30459	.	0.576325	0.19741	N	0.107121	T	0.30198	0.0757	L	0.37897	1.145	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.17961	-1.0352	10	0.27082	T	0.32	-36.4938	9.5032	0.39031	0.0:0.7077:0.0:0.2923	.	573	Q8N2H3	PYRD2_HUMAN	L	573	ENSP00000359607:V573L	ENSP00000359607:V573L	V	-	1	0	PYROXD2	100133574	0.003000	0.15002	0.745000	0.31077	0.198000	0.23893	0.669000	0.25142	0.252000	0.21531	0.462000	0.41574	GTG	.		0.557	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		G	100143584	C	G	100143584	3	3	31	1	0	0	0	0	1	0	0	0	12912	478	17	3	32	3	PYROXD2	10	100143584	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1377297	100143584	35391163	1429	6981											
PYROXD2	84795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	100159880	100159880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatccttctgggagaaCtgggcgatctgcttctggtt	14	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:100159880C>A	ENST00000370575.4	-	5	498	c.450G>T	c.(448-450)caG>caT	p.Q150H	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	150							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGGGAGAACTGGGCGATCT	0.587																																					p.Q150H		.											.	PYROXD2-90	0			c.G450T						.						127	81	97					10																	100159880		2203	4300	6503	SO:0001583	missense	84795	exon5			GGAGAACTGGGCG	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.450G>T	10.37:g.100159880C>A	ENSP00000359607:p.Gln150His	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	79	32	NM_032709	0	0	0	0	0	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829646	0.50845	.	.	ENSG00000119943	ENST00000370575	T	0.59224	0.28	5.25	3.1	0.35709	.	0.170299	0.51477	D	0.000081	T	0.53158	0.1779	M	0.70275	2.135	0.46061	D	0.998844	B	0.13145	0.007	B	0.12156	0.007	T	0.56074	-0.8039	10	0.62326	D	0.03	-18.9699	8.0866	0.30775	0.0:0.6935:0.1848:0.1217	.	150	Q8N2H3	PYRD2_HUMAN	H	150	ENSP00000359607:Q150H	ENSP00000359607:Q150H	Q	-	3	2	PYROXD2	100149870	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.632000	0.37102	1.172000	0.42781	0.462000	0.41574	CAG	.		0.587	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		A	100159880	C	A	100159880	3	1	31	1	0	0	0	0	1	0	0	0	12912	564	20	3	1343	3	PYROXD2	10	100159880	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	16296	100159880	35374867	1430	6982											
CWF19L1	55280	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	101995432	101995432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaacataccttccaaaCtgcaaaggaaaattcttttt	4	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:101995432C>T	ENST00000354105.4	-	13	1550	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Silent_p.Q203Q|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000478047.1_5'UTR	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	488							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ACCTTCCAAACTGCAAAGGAA	0.353																																					p.Q488Q		.											.	CWF19L1-90	0			c.G1464A						.						66	64	64					10																	101995432		2203	4300	6503	SO:0001819	synonymous_variant	55280	exon13			TCCAAACTGCAAA	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1464G>A	10.37:g.101995432C>T		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	25	6	NM_018294	0	0	0	0	0	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																			.		0.353	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		T	101995432	C	T	101995432	2	4	31	1	0	0	0	0	0	0	0	1	4080	564	20	3		3	CWF19L1	10	101995432	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1835552	101995432	33539315	1431	6983											
PAX2	5076	hgsc.bcm.edu;bcgsc.ca	37	chr10	102509533	102509534	+	Frame_Shift_Ins	INS	-	-	A													ggtgtgaaccagctcgggggINSggtgtttgtgaacggccggc					rs371041678		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:102509533_102509534insA	ENST00000428433.1	+	2	624_625	c.74_75insA	c.(73-78)ggggtgfs	p.V26fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.V25fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	26	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGCTCGGGGGGGTGTTTGTGA	0.658																																					p.G25fs		.											.	PAX2-90	0			c.74_75insA						.																																			SO:0001589	frameshift_variant	5076	exon2			TCGGGGGGGTGTT		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	Exception_encountered	10.37:g.102509533_102509534insA	ENSP00000396259:p.Val26fs	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	114	30	NM_003987	0	0	0	0	0	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	CCDS53569.1																																																																																			.		0.658	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				A	102509534	-	A	102509533	7	5	31	1	0	1	1	0	0	0	0	0	11518	1232	43	0	80	0	PAX2	10	102509533	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	514101	102509533	33025214	1432	6984											
PAX2	5076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	102568924	102568924	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgatgaagtcaagtcgagtCtatctgcatccaccaaccct	7	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:102568924C>T	ENST00000428433.1	+	8	1469	c.919C>T	c.(919-921)Cta>Tta	p.L307L	PAX2_ENST00000355243.3_Silent_p.L284L|PAX2_ENST00000370296.2_Silent_p.L307L|PAX2_ENST00000361791.3_Silent_p.L284L|PAX2_ENST00000556085.1_Silent_p.L283L	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	307					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGTCGAGTCTATCTGCATC	0.577																																					p.L307L		.											.	PAX2-90	0			c.C919T						.						105	94	98					10																	102568924		2203	4300	6503	SO:0001819	synonymous_variant	5076	exon8			TCGAGTCTATCTG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.919C>T	10.37:g.102568924C>T		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	100	43	NM_003987	0	0	0	0	0	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	CCDS53569.1																																																																																			.		0.577	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	102568924	C	T	102568924	2	4	31	1	0	0	0	0	0	0	0	1	11518	912	32	3		3	PAX2	10	102568924	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	59391	102568924	32965823	1433	6985											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159416	104159416	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacggcgtcaccgcggacgcGcgcgcgctgctggcgggaca	17	15	1	0	rs576597585		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:104159416G>T	ENST00000369966.3	+	14	1660	c.1410G>T	c.(1408-1410)gcG>gcT	p.A470A	NFKB2_ENST00000428099.1_Silent_p.A470A|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.A470A	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	470				A -> R (in Ref. 1; CAA43715 and 2; AAB21124). {ECO:0000305}.	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)	CCGCGGACGCGCGCGCGCTGC	0.731			T	IGH@	B-NHL								G|||	1	0.000199681	8e-04	0	5008	,	,		14700	0		0	False		,,,				2504	0				p.A470A		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.G1410T						.						4	6	5					10																	104159416		1641	3452	5093	SO:0001819	synonymous_variant	4791	exon14			GGACGCGCGCGCG	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.1410G>T	10.37:g.104159416G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	68	25	NM_001077494	0	0	0	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			.		0.731	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104159416	G	T	104159416	2	4	31	1	0	0	0	0	0	0	0	1	10415	1074	38	2		2	NFKB2	10	104159416	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1590492	104159416	31375331	1434	6986											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	20	NM_024886	0	0	0	0	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	31	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	51319	104210735	31324012	1435	6987											
INA	9118	hgsc.bcm.edu	37	chr10	105037222	105037222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggcggcgcgcaccaAcgagtacaagatcatccgca	12	15	1	1	rs529183084	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:105037222A>G	ENST00000369849.4	+	1	303	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	85	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCGCACCAACGAGTACAAG	0.692													A|||	2	0.000399361	0	0	5008	,	,		11800	0.002		0	False		,,,				2504	0				p.N85S		.											.	INA-154	0			c.A254G						.						25	26	25					10																	105037222		2143	4158	6301	SO:0001583	missense	9118	exon1			GCACCAACGAGTA	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.254A>G	10.37:g.105037222A>G	ENSP00000358865:p.Asn85Ser	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	50	13	NM_032727	0	0	0	0	0	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142927	0.57044	.	.	ENSG00000148798	ENST00000369849	D	0.82803	-1.65	4.03	4.03	0.46877	Intermediate filament head, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	L	0.37630	1.12	0.43841	D	0.996426	B	0.32653	0.379	B	0.40329	0.326	T	0.68792	-0.5315	10	0.05620	T	0.96	.	12.3605	0.55201	1.0:0.0:0.0:0.0	.	85	Q16352	AINX_HUMAN	S	85	ENSP00000358865:N85S	ENSP00000358865:N85S	N	+	2	0	INA	105027212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.092000	0.50207	1.810000	0.52873	0.379000	0.24179	AAC	.		0.692	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		G	105037222	A	G	105037222	3	3	31	1	0	0	0	0	1	0	0	0	7757	43	2	4	256	4	INA	10	105037222	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	826487	105037222	30497525	1436	6988											
PCGF6	84108	hgsc.bcm.edu	37	chr10	105110740	105110741	+	In_Frame_Ins	INS	-	-	GGAGGC													tgagggcgggcggggagacaINSggaggcggaggcggcaaggc					rs201702163|rs113359610|rs60968810	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:105110740_105110741insGGAGGC	ENST00000369847.3	-	1	150_151	c.83_84insGCCTCC	c.(82-84)cct>ccGCCTCCt	p.28_28P>PPP	PCGF6_ENST00000337211.4_In_Frame_Ins_p.28_28P>PPP|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	28	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggggagacaggaggcggagg	0.748														2236	0.446486	0.2269	0.4337	5008	,	,		11043	0.4325		0.5149	False		,,,				2504	0.6963				p.P28delinsPPP		.											.	PCGF6-226	0			c.84_85insGCCTCC						.		,	550,2140		138,274,933					,	1.3	0		dbSNP_132	6	1951,3319		581,789,1265	no	coding,coding	PCGF6	NM_032154.3,NM_001011663.1	,	719,1063,2198	A1A1,A1R,RR		37.0209,20.4461,31.4196	,	,		2501,5459				SO:0001652	inframe_insertion	84108	exon1			GGAGACAGGAGGC	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.78_83dupGCCTCC	10.37:g.105110741_105110746dupGGAGGC	ENSP00000358862:p.ProPro28dup	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	15	NM_032154	0	0	0	0	0	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	In_Frame_Ins	INS	ENST00000369847.3	37	CCDS31275.1																																																																																			-|0.590;GGAGGC|0.410		0.748	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		GGAGGC	105110741	-	GGAGGC	105110740	7	5	31	1	0	1	1	0	0	0	0	0	11617	175	7	0	1008	0	PCGF6	10	105110740	In_Frame_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	73518	105110740	30424007	1437	6989											
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu	37	chr10	106401534	106401534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcctgggccactgctcCggccgatggttccagaggaa	15	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106401534C>T	ENST00000369701.3	+	1	676	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	150					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)		GCCACTGCTCCGGCCGATGGT	0.726																																					p.P150L	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.C449T						.						4	3	3					10																	106401534		1841	3681	5522	SO:0001583	missense	22986	exon1			CTGCTCCGGCCGA	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.449C>T	10.37:g.106401534C>T	ENSP00000358715:p.Pro150Leu	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	107	14	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101251	0.06967	.	.	ENSG00000156395	ENST00000369701	T	0.13901	2.55	3.88	-5.71	0.02413	.	1.585390	0.04484	N	0.378314	T	0.05502	0.0145	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	10	0.30854	T	0.27	.	7.9091	0.29780	0.1186:0.4998:0.0:0.3816	.	150	Q9UPU3	SORC3_HUMAN	L	150	ENSP00000358715:P150L	ENSP00000358715:P150L	P	+	2	0	SORCS3	106391524	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.452000	0.06787	-1.105000	0.03011	-0.471000	0.05019	CCG	.		0.726	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106401534	C	T	106401534	3	4	31	1	0	0	0	0	1	0	0	0	14977	652	23	1	451	1	SORCS3	10	106401534	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1290794	106401534	29133213	1438	6990											
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	106737189	106737189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcggctcaccttctatatcCagagcctgctctttcatccc	5	16	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106737189C>A	ENST00000369701.3	+	4	1119	c.892C>A	c.(892-894)Cag>Aag	p.Q298K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	298					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)		CTTCTATATCCAGAGCCTGCT	0.443																																					p.Q298K	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.C892A						.						118	103	108					10																	106737189		2203	4300	6503	SO:0001583	missense	22986	exon4			TATATCCAGAGCC	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.892C>A	10.37:g.106737189C>A	ENSP00000358715:p.Gln298Lys	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	58	9	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058912	0.55325	.	.	ENSG00000156395	ENST00000369701	T	0.30182	1.54	5.6	5.6	0.85130	VPS10 (1);	0.073305	0.64402	D	0.000018	T	0.28167	0.0695	L	0.36672	1.1	0.44603	D	0.997577	P	0.37864	0.61	B	0.38616	0.277	T	0.02751	-1.1115	10	0.11485	T	0.65	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	298	Q9UPU3	SORC3_HUMAN	K	298	ENSP00000358715:Q298K	ENSP00000358715:Q298K	Q	+	1	0	SORCS3	106727179	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.963000	0.56773	2.653000	0.90120	0.563000	0.77884	CAG	.		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	106737189	C	A	106737189	3	1	31	1	0	0	0	0	1	0	0	0	14977	595	21	3	906	3	SORCS3	10	106737189	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	335655	106737189	28797558	1439	6991											
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	106970974	106970974	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccccatcaaaggacTgcagccttggtcaaagctac	8	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106970974T>A	ENST00000369701.3	+	17	2568	c.2341T>A	c.(2341-2343)Tgc>Agc	p.C781S	SORCS3_ENST00000369699.4_Missense_Mutation_p.C67S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	781					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)		ATCAAAGGACTGCAGCCTTGG	0.468																																					p.C781S	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.T2341A						.						111	91	97					10																	106970974		2203	4300	6503	SO:0001583	missense	22986	exon17			AAGGACTGCAGCC	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.2341T>A	10.37:g.106970974T>A	ENSP00000358715:p.Cys781Ser	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	216	59	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.893887	0.72639	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.64803	1.53;-0.12;0.88	5.93	5.93	0.95920	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88639	0.3174	9	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	781	Q9UPU3	SORC3_HUMAN	S	781;142;67	ENSP00000358715:C781S;ENSP00000376876:C142S;ENSP00000358713:C67S	.	C	+	1	0	SORCS3	106960964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	TGC	.		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	106970974	T	A	106970974	3	1	31	1	0	0	0	0	1	0	0	0	14977	1580	55	5	2407	5	SORCS3	10	106970974	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	233785	106970974	28563773	1440	6992											
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	108338952	108338952	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagtgactgactggactgatCatctcttgttctttctcatt	8	9	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108338952C>A	ENST00000263054.6	-	25	3379				SORCS1_ENST00000344440.6_Missense_Mutation_p.M1143I|SORCS1_ENST00000369698.1_Missense_Mutation_p.M678I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGACTGATCATCTCTTGTT	0.453																																					p.M1143I		.											.	SORCS1-153	0			c.G3429T						.						170	155	160					10																	108338952		2203	4300	6503	SO:0001627	intron_variant	114815	exon26			ACTGATCATCTCT	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3371+174G>T	10.37:g.108338952C>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	115	26	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.57|19.57	3.851559|3.851559	0.71719|0.71719	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000344440|ENST00000452214	T;T|.	0.25579|.	1.79;2.31|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.400107|.	0.28371|.	N|.	0.015599|.	T|.	0.73760|.	0.3628|.	L|L	0.60455|0.60455	1.87|1.87	0.52099|0.52099	D|D	0.999949|0.999949	B;B|.	0.26363|.	0.063;0.147|.	B;B|.	0.31245|.	0.126;0.126|.	T|.	0.69591|.	-0.5104|.	9|.	.|.	.|.	.|.	-10.6958|-10.6958	20.0165|20.0165	0.97478|0.97478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1143;1143|.	Q8WY21-3;Q8WY21-2|.	.;.|.	I|L	678;1143|158	ENSP00000358712:M678I;ENSP00000345964:M1143I|.	.|.	M|X	-|-	3|2	0|2	SORCS1|SORCS1	108328942|108328942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	ATG|TGA	.		0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108338952	C	A	108338952	1	1	31	0	1	0	0	0	0	0	0	0	14975	826	29	3		3	SORCS1	10	108338952	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1367978	108338952	27195795	1441	6993											
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	108448031	108448031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctctgcctttgttatatgtGatgaaagtcttcacttggtt	8	7	3	2	rs145364719		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108448031G>C	ENST00000263054.6	-	10	1486	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	SORCS1_ENST00000344440.6_Missense_Mutation_p.I493M|SORCS1_ENST00000369698.1_Missense_Mutation_p.I28M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	493					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTATATGTGATGAAAGTCT	0.473																																					p.I493M		.											.	SORCS1-153	0			c.C1479G						.						107	96	99					10																	108448031		2203	4300	6503	SO:0001583	missense	114815	exon10			ATATGTGATGAAA	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1479C>G	10.37:g.108448031G>C	ENSP00000263054:p.Ile493Met	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	189	26	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473855	0.63737	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.38401	1.14;1.14;1.14	6.17	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.95745	3.715	0.42229	D	0.991886	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	T	0.76607	-0.2897	9	.	.	.	-27.4765	9.5286	0.39180	0.2076:0.0:0.7924:0.0	.	493;493;493;493;493	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	28;493;493	ENSP00000358712:I28M;ENSP00000263054:I493M;ENSP00000345964:I493M	.	I	-	3	3	SORCS1	108438021	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.478000	0.60230	1.620000	0.50308	0.655000	0.94253	ATC	G|1.000;A|0.000		0.473	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		C	108448031	G	C	108448031	3	2	31	1	0	0	0	0	1	0	0	0	14975	1280	45	3	2329	3	SORCS1	10	108448031	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	109079	108448031	27086716	1442	6994											
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	108589374	108589374	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatagagatagctcaaaatGgttttcaaaccaactttatc	5	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108589374G>T	ENST00000263054.6	-	3	691	c.684C>A	c.(682-684)acC>acA	p.T228T	SORCS1_ENST00000344440.6_Silent_p.T228T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	228					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCTCAAAATGGTTTTCAAAC	0.373																																					p.T228T		.											.	SORCS1-153	0			c.C684A						.						176	162	167					10																	108589374		2203	4300	6503	SO:0001819	synonymous_variant	114815	exon3			CAAAATGGTTTTC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.684C>A	10.37:g.108589374G>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	160	17	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			.		0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108589374	G	T	108589374	2	4	31	1	0	0	0	0	0	0	0	1	14975	1335	47	3		3	SORCS1	10	108589374	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	141343	108589374	26945373	1443	6995											
SORCS1	114815	broad.mit.edu;bcgsc.ca	37	chr10	108923768	108923768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaccatggcttggttgtGtgctgagtctcccgtcagcg	15	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108923768G>A	ENST00000263054.6	-	1	524	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.H173Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	173					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTTGGTTGTGTGCTGAGTCT	0.597																																					p.H173Y		.											.	SORCS1-153	0			c.C517T						.						75	65	68					10																	108923768		2203	4300	6503	SO:0001583	missense	114815	exon1			GGTTGTGTGCTGA	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.517C>T	10.37:g.108923768G>A	ENSP00000263054:p.His173Tyr	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	127	8	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614087	0.87359	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.35973	1.28;1.28	5.16	5.16	0.70880	.	0.000000	0.49305	D	0.000160	T	0.43743	0.1261	L	0.39245	1.2	0.46396	D	0.999022	D;D;P;D;P	0.56968	0.963;0.978;0.955;0.963;0.955	B;P;P;P;P	0.53689	0.42;0.732;0.732;0.543;0.732	T	0.11542	-1.0583	9	.	.	.	-8.4423	17.3761	0.87392	0.0:0.0:1.0:0.0	.	173;173;173;173;173	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Y	173	ENSP00000263054:H173Y;ENSP00000345964:H173Y	.	H	-	1	0	SORCS1	108913758	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.700000	0.91322	2.666000	0.90696	0.655000	0.94253	CAC	.		0.597	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108923768	G	A	108923768	3	1	31	1	0	0	0	0	1	0	0	0	14975	1377	48	3	3327	3	SORCS1	10	108923768	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	334394	108923768	26610979	1444	6996											
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	112838012	112838012	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcgccccaaaacctcttCctggtgtctctggcctcggc	10	16	2	0	rs375858769		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:112838012C>T	ENST00000280155.2	+	1	1223	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	71					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)	AAAACCTCTTCCTGGTGTCTC	0.637																																					p.F86F	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.C258T						.	C		0,4406		0,0,2203	61	54	57		258	4.5	1	10		57	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADRA2A	NM_000681.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		86/466	112838012	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			CCTCTTCCTGGTG	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.258C>T	10.37:g.112838012C>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	239	79	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.637	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112838012	C	T	112838012	2	4	31	1	0	0	0	0	0	0	0	1	337	854	30	3		3	ADRA2A	10	112838012	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3914244	112838012	22696735	1445	6997											
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	112838129	112838129	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtgcgagatctacctGgcgctcgacgtgctcttctg	13	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:112838129G>T	ENST00000280155.2	+	1	1340	c.375G>T	c.(373-375)ctG>ctT	p.L125L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	110					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)	AGATCTACCTGGCGCTCGACG	0.612																																					p.L125L	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.G375T						.						96	77	83					10																	112838129		2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			CTACCTGGCGCTC	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.375G>T	10.37:g.112838129G>T		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	311	83	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.612	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112838129	G	T	112838129	2	4	31	1	0	0	0	0	0	0	0	1	337	1335	47	3		3	ADRA2A	10	112838129	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	117	112838129	22696618	1446	6998											
TDRD1	56165	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	115991245	115991245	+	Splice_Site	DEL	A	A	-													tgattttttttctttttcagAaacagcatctcttggaggta							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991245delA	ENST00000369282.1	+	25	3464	c.3311delA	c.(3310-3312)aaa>aa	p.K1104fs	TDRD1_ENST00000422662.1_Splice_Site_p.K708fs|TDRD1_ENST00000369281.2_Splice_Site_p.K1066fs|TDRD1_ENST00000251864.2_Splice_Site_p.K1180fs			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1094					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCTTTTTCAGAAACAGCATCT	0.333																																					p.K1180fs		.											.	TDRD1-90	0			c.3539delA						.						70	68	69					10																	115991245		2203	4300	6503	SO:0001630	splice_region_variant	56165	exon26			TTTCAGAAACAGC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3311-1A>-	10.37:g.115991245delA		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	59	18	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	ENST00000369282.1	37																																																																																				.		0.333	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1		Frame_Shift_Del	-	115991245	A	-	115991245	8	5	31	1	0	1	0	1	0	0	1	0	15777	260	9	0	3637	0	TDRD1	10	115991245	Splice_Site	DEL	A	TCGA-OR-A5KB-01A-11D-A30A-10	3153116	115991245	19543502	1447	6999	55	3									
TDRD1	56165	hgsc.bcm.edu	37	chr10	115991246	115991247	+	Splice_Site	DEL	AA	AA	-													gattttttttctttttcagaAacagcatctcttggaggtaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AA	AA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991246_115991247delAA	ENST00000369282.1	+	25	3465_3466	c.3312_3313delAA	c.(3310-3315)aaaaca>aaca	p.KT1104fs	TDRD1_ENST00000422662.1_Splice_Site_p.KT708fs|TDRD1_ENST00000369281.2_Splice_Site_p.KT1066fs|TDRD1_ENST00000251864.2_Splice_Site_p.KT1180fs			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1094					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTTTTTCAGAAACAGCATCTCT	0.332																																					p.1180_1181del		.											.	TDRD1-90	0			c.3540_3541del						.																																			SO:0001630	splice_region_variant	56165	exon26			TTCAGAAACAGCA	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3311-1AA>-	10.37:g.115991246_115991247delAA		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	59	0	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	ENST00000369282.1	37																																																																																				.		0.332	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1		Frame_Shift_Del	-	115991247	AA	-	115991246	8	5	31	1	0	1	0	1	0	0	1	0	15777	28	1	0	3638	0	TDRD1	10	115991246	Splice_Site	DEL	AA	TCGA-OR-A5KB-01A-11D-A30A-10	1	115991246	19543501	1448	7000	55	3									
TDRD1	56165	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr10	115991247	115991247	+	Missense_Mutation	SNP	A	A	G													attttttttctttttcagaaAcagcatctcttggaggtaaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991247A>G	ENST00000369282.1	+	25	3466	c.3313A>G	c.(3313-3315)Aca>Gca	p.T1105A	TDRD1_ENST00000422662.1_Missense_Mutation_p.T709A|TDRD1_ENST00000369281.2_Missense_Mutation_p.T1067A|TDRD1_ENST00000251864.2_Missense_Mutation_p.T1181A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1095					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTTCAGAAACAGCATCTCT	0.333																																					p.T1181A		.											.	TDRD1-90	0			c.A3541G						.						72	70	70					10																	115991247		2203	4300	6503	SO:0001583	missense	56165	exon26			TCAGAAACAGCAT	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3313A>G	10.37:g.115991247A>G	ENSP00000358288:p.Thr1105Ala	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	59	17	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369282.1	37		.	.	.	.	.	.	.	.	.	.	A	12.23	1.875713	0.33162	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662	T;T;T;T	0.16897	3.16;3.16;2.31;2.59	5.11	-3.24	0.05094	.	0.454713	0.16421	N	0.215159	T	0.05960	0.0155	.	.	.	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33111	-0.9881	9	0.16420	T	0.52	-2.8461	1.8028	0.03074	0.3586:0.1471:0.3519:0.1424	.	1067;1181	B7WPM2;Q9BXT4-3	.;.	A	1105;1181;1067;709	ENSP00000358288:T1105A;ENSP00000251864:T1181A;ENSP00000358287:T1067A;ENSP00000402794:T709A	ENSP00000251864:T1181A	T	+	1	0	TDRD1	115981237	0.698000	0.27777	0.474000	0.27266	0.092000	0.18411	-0.041000	0.12084	-0.665000	0.05317	-0.429000	0.05907	ACA	.		0.333	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1			G	115991247	A	G	115991247	3	3	31	1	0	0	0	0	1	0	0	0	15777	43	2	4	3639	4	TDRD1	10	115991247	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1	115991247	19543500	1449	7001	55	3									
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	116201527	116201527	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggagagatgcagttttaGatgatggaatatgtgaagct	14	3	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:116201527G>A	ENST00000277895.5	-	18	2049	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	ABLIM1_ENST00000392952.3_Missense_Mutation_p.S328F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S591F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S591F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S328F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S274F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	651					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGCAGTTTTAGATGATGGAAT	0.423																																					p.S651F		.											.	ABLIM1-153	0			c.C1952T						.						141	136	138					10																	116201527		2203	4300	6503	SO:0001583	missense	3983	exon18			GTTTTAGATGATG	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1952C>T	10.37:g.116201527G>A	ENSP00000277895:p.Ser651Phe	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	163	39	NM_002313	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320085	0.81469	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.93	5.93	0.95920	.	0.425710	0.26414	N	0.024520	T	0.70072	0.3182	M	0.69463	2.115	0.58432	D	0.999991	P;P;P;P;P;D;P;P;P	0.62365	0.911;0.919;0.951;0.91;0.91;0.991;0.919;0.955;0.951	P;P;P;P;P;P;P;P;P	0.61800	0.668;0.736;0.822;0.635;0.635;0.891;0.536;0.726;0.894	T	0.71307	-0.4632	10	0.87932	D	0	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	528;253;591;619;651;328;621;575;274	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;.;.;ABLM1_HUMAN;.;.;.;.	F	651;591;328;274;619;591;719;575;328;575;528;719;403	ENSP00000358256:S591F;ENSP00000376679:S328F;ENSP00000433629:S591F;ENSP00000358270:S328F	ENSP00000277895:S719F	S	-	2	0	ABLIM1	116191517	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.416000	0.80143	2.826000	0.97356	0.655000	0.94253	TCT	.		0.423	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			A	116201527	G	A	116201527	3	1	31	1	0	0	0	0	1	0	0	0	94	942	33	3	404	3	ABLIM1	10	116201527	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	210280	116201527	19333220	1450	7002											
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	116444073	116444073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagtctcccatggtgtgatGagggtccgtgagctcagtca	14	9	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:116444073G>A	ENST00000369252.4	-	1	341	c.40C>T	c.(40-42)Cat>Tat	p.H14Y	ABLIM1_ENST00000533213.2_Missense_Mutation_p.H14Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATGGTGTGATGAGGGTCCGTG	0.463																																					p.H14Y		.											.	ABLIM1-153	0			c.C40T						.						201	162	175					10																	116444073		2203	4300	6503	SO:0001583	missense	3983	exon1			TGTGATGAGGGTC	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.40C>T	10.37:g.116444073G>A	ENSP00000358256:p.His14Tyr	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	275	63	NM_001003407	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831566	0.32329	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.27104	1.69;1.69	5.87	2.97	0.34412	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.20307	N	0.999915	B;B;B	0.22683	0.073;0.012;0.012	B;B;B	0.19391	0.025;0.009;0.016	T	0.27536	-1.0071	9	0.34782	T	0.22	.	8.3265	0.32160	0.0797:0.2978:0.6225:0.0	.	14;14;14	F8W8M4;A6NKJ2;B3KVH2	.;.;.	Y	14	ENSP00000358256:H14Y;ENSP00000433629:H14Y	ENSP00000358256:H14Y	H	-	1	0	ABLIM1	116434063	0.016000	0.18221	0.179000	0.23059	0.419000	0.31324	1.625000	0.37029	0.458000	0.26988	0.655000	0.94253	CAT	.		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	116444073	G	A	116444073	3	1	31	1	0	0	0	0	1	0	0	0	94	1290	45	3	2540	3	ABLIM1	10	116444073	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	242546	116444073	19090674	1451	7003											
GFRA1	2674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118030372	118030372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctccagtaaatgcgcaggCagttcttctccttcttcata	7	12	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118030372C>A	ENST00000355422.6	-	3	846	c.296G>T	c.(295-297)tGc>tTc	p.C99F	GFRA1_ENST00000439649.3_Missense_Mutation_p.C99F|GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000369236.1_Missense_Mutation_p.C99F	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	99					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AATGCGCAGGCAGTTCTTCTC	0.627																																					p.C99F	Ovarian(128;329 1725 45498 46808 50759)	.											.	GFRA1-93	0			c.G296T						.						78	80	79					10																	118030372		2203	4300	6503	SO:0001583	missense	2674	exon3			CGCAGGCAGTTCT	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.296G>T	10.37:g.118030372C>A	ENSP00000347591:p.Cys99Phe	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	152	37	NM_005264	0	0	0	0	0	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751246	0.89753	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.55	4.55	0.56014	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.94708	0.7889	10	0.87932	D	0	-12.6975	17.377	0.87395	0.0:1.0:0.0:0.0	.	99;99	P56159;P56159-2	GFRA1_HUMAN;.	F	99	ENSP00000393725:C99F;ENSP00000358239:C99F;ENSP00000347591:C99F;ENSP00000358237:C99F	ENSP00000347591:C99F	C	-	2	0	GFRA1	118020362	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.784000	0.85713	2.085000	0.62840	0.555000	0.69702	TGC	.		0.627	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		A	118030372	C	A	118030372	3	1	31	1	0	0	0	0	1	0	0	0	6373	710	25	3	1137	3	GFRA1	10	118030372	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1586299	118030372	17504375	1452	7004											
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	118306857	118306857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtgatgactccccatGgtcaggaattacggaaagac	10	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118306857G>T	ENST00000369221.2	+	3	126	c.98G>T	c.(97-99)tGg>tTg	p.W33L	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	33					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GACTCCCCATGGTCAGGAATT	0.423																																					p.W33L		.											.	PNLIP-92	0			c.G98T						.						92	89	90					10																	118306857		2203	4300	6503	SO:0001583	missense	5406	exon3			CCCCATGGTCAGG	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.98G>T	10.37:g.118306857G>T	ENSP00000358223:p.Trp33Leu	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	161	21	NM_000936	0	0	0	0	0	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733621	0.48939	.	.	ENSG00000175535	ENST00000369221	D	0.90261	-2.64	5.12	4.2	0.49525	Lipase, N-terminal (1);	0.177366	0.41294	D	0.000911	D	0.95411	0.8510	M	0.87758	2.905	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	D	0.95925	0.8934	10	0.72032	D	0.01	.	13.944	0.64073	0.0:0.0:0.8467:0.1533	.	33	P16233	LIPP_HUMAN	L	33	ENSP00000358223:W33L	ENSP00000358223:W33L	W	+	2	0	PNLIP	118296847	1.000000	0.71417	0.971000	0.41717	0.239000	0.25481	5.567000	0.67378	1.366000	0.46076	0.591000	0.81541	TGG	.		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		T	118306857	G	T	118306857	3	4	31	1	0	0	0	0	1	0	0	0	12188	1357	47	3	104	3	PNLIP	10	118306857	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	276485	118306857	17227890	1453	7005											
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118315585	118315585	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagcatcgtcaaccctgaTggctttgctggattcccctg	10	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118315585T>G	ENST00000369221.2	+	9	913	c.885T>G	c.(883-885)gaT>gaG	p.D295E		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	295					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCAACCCTGATGGCTTTGCTG	0.438																																					p.D295E		.											.	PNLIP-92	0			c.T885G						.						218	190	199					10																	118315585		2203	4300	6503	SO:0001583	missense	5406	exon9			CCCTGATGGCTTT	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.885T>G	10.37:g.118315585T>G	ENSP00000358223:p.Asp295Glu	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	184	45	NM_000936	0	0	0	0	0	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394361	0.25205	.	.	ENSG00000175535	ENST00000369221	D	0.90788	-2.73	6.16	-0.223	0.13118	Lipase, N-terminal (1);	0.369709	0.26574	N	0.023608	T	0.79581	0.4470	L	0.37800	1.135	0.31238	N	0.69548	B	0.06786	0.001	B	0.12156	0.007	T	0.64525	-0.6387	10	0.06099	T	0.92	.	5.5218	0.16938	0.1235:0.3374:0.0:0.5391	.	295	P16233	LIPP_HUMAN	E	295	ENSP00000358223:D295E	ENSP00000358223:D295E	D	+	3	2	PNLIP	118305575	0.087000	0.21565	0.240000	0.24138	0.228000	0.25075	0.049000	0.14099	-0.264000	0.09365	0.528000	0.53228	GAT	.		0.438	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		G	118315585	T	G	118315585	3	3	31	1	0	0	0	0	1	0	0	0	12188	1461	51	5	915	5	PNLIP	10	118315585	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	8728	118315585	17219162	1454	7006											
PNLIPRP1	5407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	118350667	118350667	+	Frame_Shift_Del	DEL	T	T	-													gatcttctggacaatcacacTtttcctgctgggagcagcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118350667delT	ENST00000528052.1	+	2	97	c.26delT	c.(25-27)cttfs	p.L9fs	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Frame_Shift_Del_p.L9fs|PNLIPRP1_ENST00000534537.1_Frame_Shift_Del_p.L9fs|PNLIPRP1_ENST00000442761.1_Frame_Shift_Del_p.L9fs			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	9					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAATCACACTTTTCCTGCTG	0.493																																					p.L9fs		.											.	PNLIPRP1-154	0			c.26delT						.						86	75	78					10																	118350667		2203	4300	6503	SO:0001589	frameshift_variant	5407	exon2			TCACACTTTTCCT	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.26delT	10.37:g.118350667delT	ENSP00000433933:p.Leu9fs	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	69	19	NM_006229	0	0	0	0	0	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Frame_Shift_Del	DEL	ENST00000528052.1	37	CCDS7595.1																																																																																			.		0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		-	118350667	T	-	118350667	7	5	31	1	0	1	0	1	0	0	0	0	12189	1609	56	0	28	0	PNLIPRP1	10	118350667	Frame_Shift_Del	DEL	T	TCGA-OR-A5KB-01A-11D-A30A-10	35082	118350667	17184080	1455	7007											
PNLIPRP2	5408	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	118383552	118383552	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattacttccctggtcccCcgaggacattgacacccgct	7	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118383552C>A	ENST00000298771.7	+	0	171				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCCTGGTCCCCCGAGGACATT	0.478																																					.		.											.	PNLIPRP2-67	0			.						.						109	105	106					10																	118383552		1898	4130	6028			5408	.			GGTCCCCCGAGGA	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383552C>A		Somatic	111	1		WXS	Illumina GAIIx	Phase_I	209	51	.	0	0	0	0	0	A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.352494	0.41700	.	.	ENSG00000165862	ENST00000537242	D	0.91843	-2.92	5.65	5.65	0.86999	Lipase, N-terminal (1);	0.000000	0.56097	D	0.000021	D	0.96228	0.8770	.	.	.	0.34824	D	0.73903	D	0.89917	1.0	D	0.80764	0.994	D	0.99712	1.1007	9	0.87932	D	0	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	49	P54317	LIPR2_HUMAN	H	49	ENSP00000446346:P49H	ENSP00000446346:P49H	P	+	2	0	PNLIPRP2	118373542	0.998000	0.40836	0.146000	0.22360	0.272000	0.26649	5.875000	0.69660	2.660000	0.90430	0.555000	0.69702	CCC	.		0.478	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		A	118383552	C	A	118383552	1	1	31	0	1	0	0	0	0	0	0	0	12190	623	22	3		3	PNLIPRP2	10	118383552	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	32885	118383552	17151195	1456	7008											
C10orf82	143379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	118424447	118424447	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagaggtttctttaCatatttgcattctgtaaaaa	7	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118424447C>G	ENST00000369210.3	-	4	340	c.286G>C	c.(286-288)Gta>Cta	p.V96L	C10orf82_ENST00000588184.1_Missense_Mutation_p.V96L	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	96										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GGTTTCTTTACATATTTGCAT	0.493																																					p.V96L		.											.	C10orf82-90	0			c.G286C						.						69	79	75					10																	118424447		2203	4300	6503	SO:0001583	missense	143379	exon4			TCTTTACATATTT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.286G>C	10.37:g.118424447C>G	ENSP00000358212:p.Val96Leu	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	46	7	NM_144661	0	0	0	0	0	B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051173	0.08243	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.39997	1.05	6.08	-12.2	0.00006	.	1.964930	0.01761	N	0.030563	T	0.17746	0.0426	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06607	-1.0817	10	0.09843	T	0.71	0.557	4.7758	0.13178	0.0827:0.4395:0.2515:0.2263	.	96	Q8WW14	CJ082_HUMAN	L	96	ENSP00000358212:V96L	ENSP00000358212:V96L	V	-	1	0	C10orf82	118414437	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-2.538000	0.00938	-2.865000	0.00325	-0.857000	0.03018	GTA	.		0.493	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		G	118424447	C	G	118424447	3	3	31	1	0	0	0	0	1	0	0	0	1625	478	17	3	186	3	C10orf82	10	118424447	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	40895	118424447	17110300	1457	7009											
C10orf82	143379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118425218	118425218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcggggcagtggccactgCgcagcacaattcccgcagct	12	14	0	0	rs144390968	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118425218C>G	ENST00000369210.3	-	3	229	c.175G>C	c.(175-177)Gca>Cca	p.A59P	C10orf82_ENST00000588184.1_Missense_Mutation_p.A59P	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	59										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GTGGCCACTGCGCAGCACAAT	0.552																																					p.A59P		.											.	C10orf82-90	0			c.G175C						.						114	104	108					10																	118425218		2203	4300	6503	SO:0001583	missense	143379	exon3			CCACTGCGCAGCA	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.175G>C	10.37:g.118425218C>G	ENSP00000358212:p.Ala59Pro	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	260	35	NM_144661	0	0	0	0	0	B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397046	0.42512	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.48201	0.82	5.16	-10.3	0.00346	.	1.813090	0.02560	N	0.096683	T	0.35307	0.0927	N	0.22421	0.69	0.09310	N	1	P;P	0.46621	0.742;0.881	B;P	0.48873	0.395;0.593	T	0.57112	-0.7867	10	0.56958	D	0.05	-3.0E-4	5.4726	0.16678	0.1127:0.4205:0.066:0.4007	.	59;59	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	P	59	ENSP00000358212:A59P	ENSP00000358212:A59P	A	-	1	0	C10orf82	118415208	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.456000	0.02377	-2.592000	0.00456	-0.310000	0.09108	GCA	C|1.000;T|0.000		0.552	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		G	118425218	C	G	118425218	3	3	31	1	0	0	0	0	1	0	0	0	1625	768	27	2	301	2	C10orf82	10	118425218	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	771	118425218	17109529	1458	7010											
VAX1	11023	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	118893665	118893665	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacggggcggaggacaggcGgctggcgacggagccgagca	20	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118893665G>T	ENST00000369206.5	-	3	858	c.859C>A	c.(859-861)Cgc>Agc	p.R287S	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	287					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GAGGACAGGCGGCTGGCGACG	0.697																																					p.R287S		.											.	VAX1-92	0			c.C859A						.						16	20	19					10																	118893665		692	1591	2283	SO:0001583	missense	11023	exon3			ACAGGCGGCTGGC	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.859C>A	10.37:g.118893665G>T	ENSP00000358207:p.Arg287Ser	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	62	16	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899535	0.52227	.	.	ENSG00000148704	ENST00000369206	D	0.91740	-2.9	4.19	4.19	0.49359	.	0.062461	0.64402	D	0.000003	D	0.86961	0.6059	L	0.50333	1.59	0.47245	D	0.999368	P	0.39601	0.68	B	0.31686	0.134	D	0.85812	0.1380	10	0.11182	T	0.66	-9.2334	16.6896	0.85318	0.0:0.0:1.0:0.0	.	287	Q5SQQ9	VAX1_HUMAN	S	287	ENSP00000358207:R287S	ENSP00000358207:R287S	R	-	1	0	VAX1	118883655	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.935000	0.70145	2.161000	0.67846	0.297000	0.19635	CGC	.		0.697	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		T	118893665	G	T	118893665	3	4	31	1	0	0	0	0	1	0	0	0	17183	1116	39	2	289	2	VAX1	10	118893665	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	468447	118893665	16641082	1459	7011											
VAX1	11023	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	118896161	118896161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatctctcggatggacCccttggcatctggggaaggg	16	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118896161C>A	ENST00000369206.5	-	2	250	c.251G>T	c.(250-252)gGg>gTg	p.G84V	VAX1_ENST00000277905.2_Missense_Mutation_p.G84V	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	84					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCGGATGGACCCCTTGGCATC	0.642																																					p.G84V		.											.	VAX1-92	0			c.G251T						.						45	38	40					10																	118896161		2200	4295	6495	SO:0001583	missense	11023	exon2			ATGGACCCCTTGG	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.251G>T	10.37:g.118896161C>A	ENSP00000358207:p.Gly84Val	Somatic	207	2		WXS	Illumina GAIIx	Phase_I	325	74	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119624	0.77323	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92699	-2.3;-3.09	3.76	3.76	0.43208	Homeodomain-like (1);	0.061556	0.64402	D	0.000003	D	0.94745	0.8304	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94987	0.8131	10	0.54805	T	0.06	-14.9746	15.7549	0.78015	0.0:1.0:0.0:0.0	.	84;84	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	V	84	ENSP00000277905:G84V;ENSP00000358207:G84V	ENSP00000277905:G84V	G	-	2	0	VAX1	118886151	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.228000	0.78079	1.929000	0.55896	0.455000	0.32223	GGG	.		0.642	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		A	118896161	C	A	118896161	3	1	31	1	0	0	0	0	1	0	0	0	17183	623	22	3	901	3	VAX1	10	118896161	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2496	118896161	16638586	1460	7012											
VAX1	11023	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	118897336	118897336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatccctacctcggaccaGgatccggcggcagtaatccg	10	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118897336G>T	ENST00000369206.5	-	1	231	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	VAX1_ENST00000277905.2_Missense_Mutation_p.L78M	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	78					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTCGGACCAGGATCCGGCGG	0.667																																					p.L78M		.											.	VAX1-92	0			c.C232A						.						24	30	28					10																	118897336		2203	4300	6503	SO:0001583	missense	11023	exon1			GGACCAGGATCCG	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.232C>A	10.37:g.118897336G>T	ENSP00000358207:p.Leu78Met	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	146	58	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219567	0.39201	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92545	-2.24;-3.06	3.82	3.82	0.43975	.	0.000000	0.64402	D	0.000005	D	0.93769	0.8008	L	0.58810	1.83	0.40982	D	0.984786	D;D	0.76494	0.998;0.999	D;D	0.87578	0.99;0.998	D	0.92754	0.6218	10	0.41790	T	0.15	-4.1746	8.8777	0.35356	0.1074:0.0:0.8926:0.0	.	78;78	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	M	78	ENSP00000277905:L78M;ENSP00000358207:L78M	ENSP00000277905:L78M	L	-	1	2	VAX1	118887326	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.418000	0.66429	1.676000	0.50930	0.305000	0.20034	CTG	.		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		T	118897336	G	T	118897336	3	4	31	1	0	0	0	0	1	0	0	0	17183	991	35	3	924	3	VAX1	10	118897336	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1175	118897336	16637411	1461	7013											
KCNK18	338567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118969655	118969655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatactgttttagaacacCctaacttcttcctgttcttc	6	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118969655C>A	ENST00000334549.1	+	3	1000	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423																																					p.P334T		.											.	KCNK18-91	2	Substitution - Missense(2)	lung(2)	c.C1000A						.						328	283	298					10																	118969655		2203	4300	6503	SO:0001583	missense	338567	exon3			GAACACCCTAACT	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.1000C>A	10.37:g.118969655C>A	ENSP00000334650:p.Pro334Thr	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	316	105	NM_181840	0	0	0	0	0	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139849	0.77775	.	.	ENSG00000186795	ENST00000334549	T	0.22945	1.93	5.4	4.45	0.53987	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.52364	1.645	0.58432	D	0.999996	B	0.33549	0.417	P	0.48334	0.574	T	0.05683	-1.0870	10	0.25751	T	0.34	.	16.1623	0.81730	0.1334:0.8666:0.0:0.0	.	334	Q7Z418	KCNKI_HUMAN	T	334	ENSP00000334650:P334T	ENSP00000334650:P334T	P	+	1	0	KCNK18	118959645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.778000	0.55371	2.704000	0.92352	0.655000	0.94253	CCT	.		0.423	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		A	118969655	C	A	118969655	3	1	31	1	0	0	0	0	1	0	0	0	8092	623	22	3	1010	3	KCNK18	10	118969655	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	72319	118969655	16565092	1462	7014											
SLC18A2	6571	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	119003663	119003663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctgacacttcatcagacCgccacacagcacatggtgac	8	15	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:119003663C>A	ENST00000298472.5	+	3	446	c.303C>A	c.(301-303)acC>acA	p.T101T	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	101					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)	TTCATCAGACCGCCACACAGC	0.512																																					p.T101T		.											.	SLC18A2-90	0			c.C303A						.						121	105	110					10																	119003663		2203	4300	6503	SO:0001819	synonymous_variant	6571	exon3			TCAGACCGCCACA	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.303C>A	10.37:g.119003663C>A		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	231	41	NM_003054	0	0	0	0	0	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																			.		0.512	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		A	119003663	C	A	119003663	2	1	31	1	0	0	0	0	0	0	0	1	14471	639	23	2		2	SLC18A2	10	119003663	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	34008	119003663	16531084	1463	7015											
EMX2	2018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	119305183	119305183	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttccttttgcacaacgcGctggcccgaaagcccaagcg	10	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:119305183G>T	ENST00000553456.3	+	2	1271	c.447G>T	c.(445-447)gcG>gcT	p.A149A	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	149					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGCACAACGCGCTGGCCCGAA	0.622																																					p.A149A		.											.	EMX2-90	0			c.G447T						.						66	56	59					10																	119305183		2203	4300	6503	SO:0001819	synonymous_variant	2018	exon2			CAACGCGCTGGCC	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.447G>T	10.37:g.119305183G>T		Somatic	410	1		WXS	Illumina GAIIx	Phase_I	606	223	NM_004098	0	0	0	0	0	G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	CCDS7601.1																																																																																			.		0.622	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		T	119305183	G	T	119305183	2	4	31	1	0	0	0	0	0	0	0	1	5124	1074	38	2		2	EMX2	10	119305183	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	301520	119305183	16229564	1464	7016											
PRLHR	2834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120353662	120353662	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcagatgaccacgctgacGgtcatattctggccatgggg	12	11	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120353662G>C	ENST00000369169.1	-	1	1094	c.1095C>G	c.(1093-1095)acC>acG	p.T365T	PRLHR_ENST00000239032.2_Silent_p.T365T			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	365	Required for interaction with GRIP1, GRIP2 and PICK1.				feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CCACGCTGACGGTCATATTCT	0.587																																					p.T365T		.											.	PRLHR-90	0			c.C1095G						.						52	47	49					10																	120353662		2203	4300	6503	SO:0001819	synonymous_variant	2834	exon2			GCTGACGGTCATA	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.1095C>G	10.37:g.120353662G>C		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	331	53	NM_004248	0	0	0	0	0	O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	CCDS7606.1																																																																																			.		0.587	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		C	120353662	G	C	120353662	2	2	31	1	0	0	0	0	0	0	0	1	12572	1103	39	2		2	PRLHR	10	120353662	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1048479	120353662	15181085	1465	7017											
PRLHR	2834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120354576	120354576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcagcacgatcagccCcttcagctgatgcaccagct	10	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120354576C>A	ENST00000369169.1	-	1	180	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	PRLHR_ENST00000239032.2_Missense_Mutation_p.G61W			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	61					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACGATCAGCCCCTTCAGCTGA	0.697																																					p.G61W		.											.	PRLHR-90	0			c.G181T						.						57	59	59					10																	120354576		2203	4299	6502	SO:0001583	missense	2834	exon2			TCAGCCCCTTCAG	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.181G>T	10.37:g.120354576C>A	ENSP00000358167:p.Gly61Trp	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	372	97	NM_004248	0	0	0	0	0	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407399	0.62399	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.37058	1.22;1.22	4.97	4.97	0.65823	.	0.382752	0.26373	N	0.024753	T	0.20373	0.0490	N	0.08118	0	0.31857	N	0.621519	D	0.55800	0.973	B	0.43754	0.43	T	0.06807	-1.0806	10	0.32370	T	0.25	.	10.5604	0.45142	0.1382:0.7102:0.1516:0.0	.	61	P49683	PRLHR_HUMAN	W	61	ENSP00000239032:G61W;ENSP00000358167:G61W	ENSP00000239032:G61W	G	-	1	0	PRLHR	120344566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.542000	0.45744	2.578000	0.87016	0.655000	0.94253	GGG	.		0.697	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		A	120354576	C	A	120354576	3	1	31	1	0	0	0	0	1	0	0	0	12572	623	22	3	935	3	PRLHR	10	120354576	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	914	120354576	15180171	1466	7018											
SFXN4	119559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120921874	120921874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtccgccgaggcagggCtggaaacatcttcatttgtg	13	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120921874C>T	ENST00000355697.2	-	3	249	c.230G>A	c.(229-231)aGc>aAc	p.S77N	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S77N	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	77					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CGAGGCAGGGCTGGAAACATC	0.453																																					p.S77N		.											.	SFXN4-91	0			c.G230A						.						150	131	138					10																	120921874		2203	4300	6503	SO:0001583	missense	119559	exon3			GCAGGGCTGGAAA		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.230G>A	10.37:g.120921874C>T	ENSP00000347924:p.Ser77Asn	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	329	122	NM_213649	0	0	0	0	0	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	c	1.409	-0.576096	0.03882	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.32023	1.47;1.47	3.41	-4.07	0.03975	.	1.173220	0.06399	N	0.718470	T	0.10723	0.0262	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.17832	T	0.49	-0.0157	4.0393	0.09743	0.3809:0.3345:0.0:0.2846	.	77	Q6P4A7	SFXN4_HUMAN	N	77	ENSP00000347924:S77N;ENSP00000333200:S77N	ENSP00000333200:S77N	S	-	2	0	SFXN4	120911864	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.227000	0.02950	-1.436000	0.01970	-1.144000	0.01866	AGC	.		0.453	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		T	120921874	C	T	120921874	3	4	31	1	0	0	0	0	1	0	0	0	14242	797	28	3	831	3	SFXN4	10	120921874	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	567298	120921874	14612873	1467	7019											
SEC23IP	11196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	121685604	121685604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctacaaaaggacaagaGcaaagtgcccagaagactaa	8	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:121685604G>T	ENST00000369075.3	+	13	2250	c.2178G>T	c.(2176-2178)gaG>gaT	p.E726D	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E515D	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	726					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAGGACAAGAGCAAAGTGCCC	0.433																																					p.E726D		.											.	SEC23IP-93	0			c.G2178T						.						87	78	81					10																	121685604		2203	4300	6503	SO:0001583	missense	11196	exon13			ACAAGAGCAAAGT	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2178G>T	10.37:g.121685604G>T	ENSP00000358071:p.Glu726Asp	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	168	68	NM_007190	0	0	0	0	0	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	4.498	0.092284	0.08632	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.43688	1.41;0.94	5.71	-3.95	0.04118	.	0.340899	0.34291	N	0.004092	T	0.17023	0.0409	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.003	T	0.08911	-1.0699	10	0.19590	T	0.45	-9.6098	0.8291	0.01126	0.4205:0.1197:0.1936:0.2662	.	515;726	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	D	726;515	ENSP00000358071:E726D;ENSP00000438773:E515D	ENSP00000358071:E726D	E	+	3	2	SEC23IP	121675594	0.954000	0.32549	0.051000	0.19133	0.317000	0.28152	0.155000	0.16362	-0.562000	0.06086	0.591000	0.81541	GAG	.		0.433	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			T	121685604	G	T	121685604	3	4	31	1	0	0	0	0	1	0	0	0	14038	962	34	3	2228	3	SEC23IP	10	121685604	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	763730	121685604	13849143	1468	7020											
TACC2	10579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	124008228	124008228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctggagaaggagcaagcCctggccgacctgaactccgt	13	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124008228C>T	ENST00000369005.1	+	20	8803	c.8463C>T	c.(8461-8463)gcC>gcT	p.A2821A	TACC2_ENST00000453444.2_Silent_p.A2748A|TACC2_ENST00000369000.1_Silent_p.A444A|TACC2_ENST00000260733.3_Silent_p.A899A|TACC2_ENST00000334433.3_Silent_p.A2821A|TACC2_ENST00000369004.3_Silent_p.A881A|TACC2_ENST00000515273.1_Silent_p.A2748A|TACC2_ENST00000360561.3_Silent_p.A869A|TACC2_ENST00000358010.1_Silent_p.A967A|TACC2_ENST00000369001.1_Silent_p.A448A|TACC2_ENST00000513429.1_Silent_p.A967A|TACC2_ENST00000515603.1_Silent_p.A2699A|TACC2_ENST00000368999.1_Silent_p.A911A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2821					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)				AGGAGCAAGCCCTGGCCGACC	0.562																																					p.A2821A		.											.	TACC2-296	0			c.C8463T						.						112	120	117					10																	124008228		2203	4300	6503	SO:0001819	synonymous_variant	10579	exon20			GCAAGCCCTGGCC	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.8463C>T	10.37:g.124008228C>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	181	33	NM_206862	0	0	0	0	0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127132	0.06795	.	.	ENSG00000138162	ENST00000490979	.	.	.	5.29	-0.283	0.12874	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-17.4476	1.9848	0.03434	0.3084:0.2305:0.3353:0.1258	.	.	.	.	L	65	.	.	P	+	2	0	TACC2	123998218	0.072000	0.21174	0.997000	0.53966	0.212000	0.24457	-0.286000	0.08399	-0.006000	0.14370	-0.181000	0.13052	CCC	.		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	124008228	C	T	124008228	2	4	31	1	0	0	0	0	0	0	0	1	15549	610	22	3		3	TACC2	10	124008228	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2322624	124008228	11526519	1469	7021											
DMBT1	1755	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	124402801	124402801	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcccgctgctaccgaGgctgtgtgttgaggtcgaag	13	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124402801G>C	ENST00000338354.3	+	53	7235	c.7129G>C	c.(7129-7131)Ggc>Cgc	p.G2377R	DMBT1_ENST00000368909.3_Missense_Mutation_p.G2377R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G1097R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2367R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1749R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2367R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1749R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2377	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTACCGAGGCTGTGTGTT	0.602																																					p.G2377R	Ovarian(182;93 2026 18125 22222 38972)	.											.	DMBT1-494	0			c.G7129C						.						114	117	116					10																	124402801		2076	4220	6296	SO:0001583	missense	1755	exon53			TACCGAGGCTGTG		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.7129G>C	10.37:g.124402801G>C	ENSP00000342210:p.Gly2377Arg	Somatic	304	2		WXS	Illumina GAIIx	Phase_I	570	143	NM_007329	0	0	0	0	0	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	17.21	3.332037	0.60853	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.28	5.28	0.74379	Zona pellucida sperm-binding protein (3);	0.203356	0.23866	U	0.043795	D	0.93044	0.7786	M	0.90705	3.14	0.52501	D	0.999959	D;B;D;D;D;D;D	0.89917	1.0;0.043;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D	0.97110	1.0;0.012;1.0;1.0;1.0;1.0;1.0	D	0.94215	0.7462	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	1097;2357;1626;2506;1749;2367;2377	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	R	2377;2506;2377;2377;2377;2376;1749;2367;1749;1749;2377;2367;1749;523;1097	ENSP00000342210:G2377R;ENSP00000343175:G2367R;ENSP00000327747:G1749R;ENSP00000357905:G2377R;ENSP00000357951:G2367R;ENSP00000357952:G1749R;ENSP00000352593:G1097R	ENSP00000331522:G1749R	G	+	1	0	DMBT1	124392791	1.000000	0.71417	0.920000	0.36463	0.044000	0.14063	7.727000	0.84838	2.479000	0.83701	0.655000	0.94253	GGC	.		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		C	124402801	G	C	124402801	3	2	31	1	0	0	0	0	1	0	0	0	4591	1000	35	3	7339	3	DMBT1	10	124402801	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	394573	124402801	11131946	1470	7022											
HMX2	3167	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	124907940	124907941	+	Missense_Mutation	DNP	GG	GG	TT													aggggtgtccggcggccggtGgcgtctccagcttcaccatc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124907940_124907941GG>TT	ENST00000339992.3	+	1	303_304	c.46_47GG>TT	c.(46-48)GGc>TTc	p.G16F		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	16					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GGCGGCCGGTGGCGTCTCCAGC	0.644																																					p.G16F		.											.	HMX2-90	0			c.G47T						.																																			SO:0001583	missense	3167	exon1			CCGGTGGCGTCTC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	Exception_encountered	10.37:g.124907940_124907941delinsTT	ENSP00000341108:p.Gly16Phe	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	226	13	NM_005519	0	0	0	0	0	B2RNV5	Missense_Mutation	DNP	ENST00000339992.3	37	CCDS31305.1																																																																																			.		0.644	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		TT	124907941	GG	TT	124907940	3	4	31	1	0	0	0	0	1	0	0	0	7274	1348	47	3	48	3	HMX2	10	124907940	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	505139	124907940	10626807	1471	7023											
HMX2	3167	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	124909282	124909282	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagaagacgcgcaccgtCttttcgcgcagccaggtgta	12	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124909282C>A	ENST00000339992.3	+	2	722	c.465C>A	c.(463-465)gtC>gtA	p.V155V		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	155					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CGCGCACCGTCTTTTCGCGCA	0.726																																					p.V155V		.											.	HMX2-90	0			c.C465A						.						11	11	11					10																	124909282		2171	4251	6422	SO:0001819	synonymous_variant	3167	exon2			CACCGTCTTTTCG		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.465C>A	10.37:g.124909282C>A		Somatic	98	1		WXS	Illumina GAIIx	Phase_I	196	29	NM_005519	0	0	0	0	0	B2RNV5	Silent	SNP	ENST00000339992.3	37	CCDS31305.1																																																																																			.		0.726	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		A	124909282	C	A	124909282	2	1	31	1	0	0	0	0	0	0	0	1	7274	900	32	3		3	HMX2	10	124909282	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1342	124909282	10625465	1472	7024											
CPXM2	119587	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	125530486	125530486	+	Missense_Mutation	SNP	C	C	A													cacagcatacagcttcaggcCctggtggctttttccaatgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125530486C>A	ENST00000241305.3	-	8	1202	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	350					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)		AGCTTCAGGCCCTGGTGGCTT	0.463																																					p.G350C		.											.	CPXM2-92	0			c.G1048T						.						269	276	274					10																	125530486		2203	4300	6503	SO:0001583	missense	119587	exon8			TCAGGCCCTGGTG	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.1048G>T	10.37:g.125530486C>A	ENSP00000241305:p.Gly350Cys	Somatic	146	2		WXS	Illumina GAIIx	Phase_I	247	85	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459282	0.84317	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.07908	3.15	4.42	4.42	0.53409	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64279	-0.6445	10	0.87932	D	0	-14.6304	17.2256	0.86969	0.0:1.0:0.0:0.0	.	350	Q8N436	CPXM2_HUMAN	C	350;183;350	ENSP00000241305:G350C	ENSP00000241305:G350C	G	-	1	0	CPXM2	125520476	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.645000	0.83430	2.271000	0.75665	0.591000	0.81541	GGC	.		0.463	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125530486	C	A	125530486	3	1	31	1	0	0	0	0	1	0	0	0	3845	623	22	3	1250	3	CPXM2	10	125530486	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	621204	125530486	10004261	1473	7025	56	2									
CPXM2	119587	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	125530489	125530489	+	Missense_Mutation	SNP	G	G	T													agcatacagcttcaggccctGgtggctttttccaatgttgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125530489G>T	ENST00000241305.3	-	8	1199	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	349					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)		TTCAGGCCCTGGTGGCTTTTT	0.463																																					p.Q349K		.											.	CPXM2-92	0			c.C1045A						.						272	280	277					10																	125530489		2203	4300	6503	SO:0001583	missense	119587	exon8			GGCCCTGGTGGCT	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.1045C>A	10.37:g.125530489G>T	ENSP00000241305:p.Gln349Lys	Somatic	154	3		WXS	Illumina GAIIx	Phase_I	246	80	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708793	0.30322	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11604	2.76	4.42	4.42	0.53409	Peptidase M14, carboxypeptidase A (2);	0.295124	0.34932	N	0.003570	T	0.10895	0.0266	L	0.31294	0.92	0.80722	D	1	B	0.13594	0.008	B	0.23716	0.048	T	0.12993	-1.0526	10	0.37606	T	0.19	-19.3477	17.2256	0.86969	0.0:0.0:1.0:0.0	.	349	Q8N436	CPXM2_HUMAN	K	349;182;349	ENSP00000241305:Q349K	ENSP00000241305:Q349K	Q	-	1	0	CPXM2	125520479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.426000	0.52778	2.271000	0.75665	0.591000	0.81541	CAG	.		0.463	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125530489	G	T	125530489	3	4	31	1	0	0	0	0	1	0	0	0	3845	1357	47	3	1253	3	CPXM2	10	125530489	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3	125530489	10004258	1474	7026	56	2									
CPXM2	119587	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	125639753	125639754	+	Missense_Mutation	DNP	CG	CG	AC													tgacatcttcacgggccacaCggacactgtgatcatcgttg					rs202210136		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125639753_125639754CG>AC	ENST00000241305.3	-	2	530_531	c.376_377CG>GT	c.(376-378)CGt>GTt	p.R126V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	126					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)		ACGGGCCACACGGACACTGTGA	0.54																																					p.R126V		.											.	CPXM2-92	0			c.C376G						.																																			SO:0001583	missense	119587	exon2			CCACACGGACACT	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.376_377delinsAC	10.37:g.125639753_125639754delinsAC	ENSP00000241305:p.Arg126Val	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	138	0	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	DNP	ENST00000241305.3	37	CCDS7637.1																																																																																			.		0.54	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		AC	125639754	CG	AC	125639753	3	1	31	1	0	0	0	0	1	0	0	0	3845	536	19	2	1945	2	CPXM2	10	125639753	Missense_Mutation	DNP	CG	TCGA-OR-A5KB-01A-11D-A30A-10	109264	125639753	9894994	1475	7027											
ADAM12	8038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127806696	127806696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatccacatgatccccggaCgcttttcagcttcttcgctg	8	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:127806696C>A	ENST00000368679.4	-	6	832	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V175F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	175					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)	p.V175I(3)		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)		GATCCCCGGACGCTTTTCAGC	0.463																																					p.V175F		.											.	ADAM12-716	3	Substitution - Missense(3)	endometrium(3)	c.G523T						.						196	171	179					10																	127806696		2203	4300	6503	SO:0001583	missense	8038	exon6			CCCGGACGCTTTT	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.523G>T	10.37:g.127806696C>A	ENSP00000357668:p.Val175Phe	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	235	54	NM_021641	0	0	0	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	2.926	-0.222096	0.06061	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21543	4.78;2.0;3.73	5.03	-9.81	0.00487	.	1.225820	0.05704	N	0.594691	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.31680	0.226;0.335;0.335;0.335;0.103	B;B;B;B;B	0.34779	0.092;0.189;0.189;0.189;0.058	T	0.20306	-1.0279	10	0.13853	T	0.58	.	4.9588	0.14056	0.1842:0.484:0.0998:0.232	.	172;172;175;172;175	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	F	175;175;172	ENSP00000357668:V175F;ENSP00000357665:V175F;ENSP00000391268:V172F	ENSP00000357665:V175F	V	-	1	0	ADAM12	127796686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.784000	0.00367	-1.828000	0.01202	-2.056000	0.00403	GTC	.		0.463	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			A	127806696	C	A	127806696	3	1	31	1	0	0	0	0	1	0	0	0	236	536	19	2	2386	2	ADAM12	10	127806696	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2166943	127806696	7728051	1476	7028											
C10orf90	118611	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	128147643	128147643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcgtgaactgcttcttGctggtgcggatgggaaggag	17	6	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:128147643G>T	ENST00000284694.7	-	6	1983	c.1863C>A	c.(1861-1863)agC>agA	p.S621R	C10orf90_ENST00000356858.3_Missense_Mutation_p.S574R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S718R|C10orf90_ENST00000454341.1_Missense_Mutation_p.S524R|C10orf90_ENST00000480379.1_Missense_Mutation_p.S25R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	621	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTGCTTCTTGCTGGTGCGGA	0.577																																					p.S621R		.											.	C10orf90-92	0			c.C1863A						.						156	118	131					10																	128147643		2203	4300	6503	SO:0001583	missense	118611	exon6			CTTCTTGCTGGTG	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1863C>A	10.37:g.128147643G>T	ENSP00000284694:p.Ser621Arg	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	200	64	NM_001004298	0	0	0	0	0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.587|6.587	0.476688|0.476688	0.12521|0.12521	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.|T;T;T;T	.|0.18016	.|2.27;2.24;2.26;2.25	5.01|5.01	3.06|3.06	0.35304|0.35304	.|.	.|0.783453	.|0.11119	.|N	.|0.597671	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;B	.|0.33583	.|0.418;0.418;0.074	.|B;B;B	.|0.30943	.|0.122;0.122;0.029	T|T	0.23404|0.23404	-1.0189|-1.0189	5|10	.|0.11794	.|T	.|0.64	-9.7278|-9.7278	4.3577|4.3577	0.11187|0.11187	0.0869:0.1509:0.6068:0.1554|0.0869:0.1509:0.6068:0.1554	.|.	.|718;621;524	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	E|R	164|574;621;524;718;621	.|ENSP00000284694:S621R;ENSP00000398786:S524R;ENSP00000444369:S718R;ENSP00000405995:S621R	.|ENSP00000284694:S621R	A|S	-|-	2|3	0|2	C10orf90|C10orf90	128137633|128137633	0.968000|0.968000	0.33430|0.33430	0.839000|0.839000	0.33178|0.33178	0.826000|0.826000	0.46750|0.46750	1.370000|1.370000	0.34238|0.34238	1.323000|1.323000	0.45263|0.45263	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.577	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		T	128147643	G	T	128147643	3	4	31	1	0	0	0	0	1	0	0	0	1628	1310	46	3	252	3	C10orf90	10	128147643	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	340947	128147643	7387104	1477	7029											
C10orf90	118611	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	128153420	128153420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaggtctctagacagaCagtcatcgcttggagagcta	11	9	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:128153420C>G	ENST00000284694.7	-	4	1499	c.1379G>C	c.(1378-1380)tGt>tCt	p.C460S	C10orf90_ENST00000356858.3_Missense_Mutation_p.C413S|C10orf90_ENST00000544758.1_Missense_Mutation_p.C557S|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000480379.1_5'Flank	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	460					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTAGACAGACAGTCATCGCT	0.478																																					p.C460S		.											.	C10orf90-92	0			c.G1379C						.						114	110	111					10																	128153420		2203	4300	6503	SO:0001583	missense	118611	exon4			GACAGACAGTCAT	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1379G>C	10.37:g.128153420C>G	ENSP00000284694:p.Cys460Ser	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	279	25	NM_001004298	0	0	0	0	0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	1.442	-0.567470	0.03910	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.16597	2.33;2.34;2.33	4.17	0.985	0.19779	.	1.118330	0.06747	N	0.779376	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.18013	0.025;0.007	B;B	0.12156	0.007;0.007	T	0.39820	-0.9595	10	0.15066	T	0.55	0.4615	2.94	0.05826	0.0:0.4517:0.2369:0.3115	.	557;460	F5GZL2;Q96M02	.;CJ090_HUMAN	S	413;460;557;460	ENSP00000284694:C460S;ENSP00000444369:C557S;ENSP00000405995:C460S	ENSP00000284694:C460S	C	-	2	0	C10orf90	128143410	0.076000	0.21285	0.013000	0.15412	0.755000	0.42902	0.166000	0.16583	0.395000	0.25257	0.637000	0.83480	TGT	.		0.478	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		G	128153420	C	G	128153420	3	3	31	1	0	0	0	0	1	0	0	0	1628	478	17	3	744	3	C10orf90	10	128153420	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5777	128153420	7381327	1478	7030											
MGMT	4255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	131565118	131565118	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaactactccggaGgactggccgtgaaggaatgg	16	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:131565118G>C	ENST00000306010.7	+	5	606	c.574G>C	c.(574-576)Gga>Cga	p.G192R	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	161					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CTACTCCGGAGGACTGGCCGT	0.657								Direct reversal of damage																													p.G192R		.											.	MGMT-1108	0			c.G574C						.						36	37	37					10																	131565118		2203	4300	6503	SO:0001583	missense	4255	exon5			TCCGGAGGACTGG	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.574G>C	10.37:g.131565118G>C	ENSP00000302111:p.Gly192Arg	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	338	41	NM_002412	0	0	0	0	0	Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490258	0.64074	.	.	ENSG00000170430	ENST00000306010	T	0.22336	1.96	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.69465	-0.5138	10	0.87932	D	0	.	18.4481	0.90693	0.0:0.0:1.0:0.0	.	192	B4DEE8	.	R	192	ENSP00000302111:G192R	ENSP00000302111:G192R	G	+	1	0	MGMT	131455108	1.000000	0.71417	0.910000	0.35882	0.076000	0.17211	7.831000	0.86748	2.362000	0.80069	0.563000	0.77884	GGA	.		0.657	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		C	131565118	G	C	131565118	3	2	31	1	0	0	0	0	1	0	0	0	9595	1001	35	3	592	3	MGMT	10	131565118	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3411698	131565118	3969629	1479	7031											
EBF3	253738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	131638572	131638572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggcttggggccggaccaCgggcgcgaaggcgctcttct	17	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:131638572C>A	ENST00000355311.5	-	15	1768	c.1696G>T	c.(1696-1698)Gtg>Ttg	p.V566L	EBF3_ENST00000368648.3_Missense_Mutation_p.V521L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	566					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGCCGGACCACGGGCGCGAAG	0.622																																					p.V521L		.											.	EBF3-91	0			c.G1561T						.						40	38	39					10																	131638572		2199	4294	6493	SO:0001583	missense	253738	exon15			GGACCACGGGCGC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1696G>T	10.37:g.131638572C>A	ENSP00000347463:p.Val566Leu	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	207	30	NM_001005463	0	0	0	0	0	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.371658|4.371658	0.82573|0.82573	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000440978|ENST00000355311;ENST00000368648	.|T;T	.|0.68025	.|-0.3;-0.3	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.262921	.|0.36034	.|N	.|0.002825	T|T	0.82047|0.82047	0.4952|0.4952	M|M	0.85542|0.85542	2.76|2.76	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.46952	.|0.887	.|P	.|0.58970	.|0.849	D|D	0.85232|0.85232	0.1033|0.1033	5|10	.|0.59425	.|D	.|0.04	-12.8126|-12.8126	17.6452|17.6452	0.88146|0.88146	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|521	.|Q9H4W6-2	.|.	L|L	127|566;521	.|ENSP00000347463:V566L;ENSP00000357637:V521L	.|ENSP00000347463:V566L	R|V	-|-	2|1	0|0	EBF3|EBF3	131528562|131528562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.766000|7.766000	0.85320|0.85320	2.220000|2.220000	0.72140|0.72140	0.462000|0.462000	0.41574|0.41574	CGT|GTG	.		0.622	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131638572	C	A	131638572	3	1	31	1	0	0	0	0	1	0	0	0	4896	536	19	2	102	2	EBF3	10	131638572	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	73454	131638572	3896175	1480	7032											
JAKMIP3	282973	ucsc.edu;bcgsc.ca	37	chr10	133931066	133931066	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaggagtgcgagcgggaGatccgcaggctggtacgtgg	19	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:133931066G>T	ENST00000298622.4	+	2	759	c.621G>T	c.(619-621)gaG>gaT	p.E207D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	207						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		gcgagcgggagatccgcaggc	0.697																																					p.E207D		.											.	JAKMIP3-23	0			c.G621T						.						12	13	12					10																	133931066		2011	4129	6140	SO:0001583	missense	282973	exon2			GCGGGAGATCCGC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.621G>T	10.37:g.133931066G>T	ENSP00000298622:p.Glu207Asp	Somatic	114	2		WXS	Illumina GAIIx	Phase_I	233	86	NM_001105521	0	0	0	0	0	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	3.089	-0.187320	0.06299	.	.	ENSG00000188385	ENST00000298622	T	0.29655	1.56	4.66	3.74	0.42951	.	0.054685	0.64402	N	0.000001	T	0.14313	0.0346	N	0.12569	0.235	0.28091	N	0.931799	B	0.06786	0.001	B	0.08055	0.003	T	0.22452	-1.0216	10	0.12430	T	0.62	-32.3029	8.0937	0.30816	0.0897:0.3319:0.5784:0.0	.	207	Q5VZ66	JKIP3_HUMAN	D	207	ENSP00000298622:E207D	ENSP00000298622:E207D	E	+	3	2	JAKMIP3	133781056	0.991000	0.36638	1.000000	0.80357	0.987000	0.75469	0.236000	0.17967	1.132000	0.42129	0.591000	0.81541	GAG	.		0.697	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133931066	G	T	133931066	3	4	31	1	0	0	0	0	1	0	0	0	7969	933	33	3	627	3	JAKMIP3	10	133931066	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2292494	133931066	1603681	1481	7033											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134218296	134218296	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccccccgagaccaccCgccccgagccacccccgccc	7	26	1	1	rs10747057	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134218296C>G	ENST00000305233.5	+	2	351	c.292C>G	c.(292-294)Cgc>Ggc	p.R98G	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R98G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	98	Pro-rich.		R -> G (in dbSNP:rs10747057). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGAGACCACCCGCCCCGAGCC	0.756													G|||	2967	0.592452	0.7065	0.5461	5008	,	,		5878	0.6954		0.4563	False		,,,				2504	0.5051				p.R98G		.											.	PWWP2B-90	0			c.C292G						.	G	GLY/ARG,GLY/ARG	2822,1070		1079,664,203	6	9	8		292,292	2.8	0	10	dbSNP_120	8	3931,3905		1096,1739,1083	no	missense,missense	PWWP2B	NM_001098637.1,NM_138499.3	125,125	2175,2403,1286	GG,GC,CC		49.8341,27.4923,42.4198	benign,benign	98/500,98/591	134218296	6753,4975	1946	3918	5864	SO:0001583	missense	170394	exon2			ACCACCCGCCCCG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.292C>G	10.37:g.134218296C>G	ENSP00000306324:p.Arg98Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	14	NM_001098637	0	0	0	0	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	1241	0.5682234432234432	337	0.6849593495934959	177	0.4889502762430939	394	0.6888111888111889	333	0.4393139841688654	G	0.032	-1.327586	0.01309	0.725077	0.501659	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54675	0.56;1.56	2.77	2.77	0.32553	.	1.934230	0.03132	N	0.165319	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.23302	T	0.38	0.1321	1.7392	0.02948	0.1217:0.2122:0.4474:0.2187	rs10747057;rs57970936	98	Q6NUJ5	PWP2B_HUMAN	G	98	ENSP00000306324:R98G;ENSP00000357598:R98G	ENSP00000306324:R98G	R	+	1	0	PWWP2B	134068286	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.230000	0.02942	0.744000	0.32741	-0.224000	0.12420	CGC	C|0.431;G|0.569		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		G	134218296	C	G	134218296	3	3	31	1	0	0	0	0	1	0	0	0	12891	652	23	2	298	2	PWWP2B	10	134218296	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	287230	134218296	1316451	1482	7034											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219066	134219066	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaccgggccgagctggtGggggagctgaacgggtacct	19	9	0	1	rs76595411	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134219066G>C	ENST00000305233.5	+	2	1121	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	PWWP2B_ENST00000368609.4_Silent_p.V354V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	354										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCGAGCTGGTGGGGGAGCTGA	0.726													G|||	150	0.0299521	0.0083	0.0504	5008	,	,		14238	0.002		0.0636	False		,,,				2504	0.0389				p.V354V		.											.	PWWP2B-90	0			c.G1062C						.	G	,	58,4234		0,58,2088	21	26	24		1062,1062	-1.9	0.8	10	dbSNP_132	24	487,7941		17,453,3744	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	17,511,5832	CC,CG,GG		5.7784,1.3514,4.2846	,	354/500,354/591	134219066	545,12175	2146	4214	6360	SO:0001819	synonymous_variant	170394	exon2			GCTGGTGGGGGAG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1062G>C	10.37:g.134219066G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	40	25	NM_001098637	0	0	0	0	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			G|0.955;C|0.045		0.726	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		C	134219066	G	C	134219066	2	2	31	1	0	0	0	0	0	0	0	1	12891	1335	47	3		3	PWWP2B	10	134219066	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	770	134219066	1315681	1483	7035											
TUBGCP2	10844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	135106162	135106162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctcagcgtggaccccCcaagacattcgcctttgtcc	10	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135106162C>A	ENST00000252936.3	-	7	1094	c.1055G>T	c.(1054-1056)gGg>gTg	p.G352V	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G222V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G380V|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.G352V			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	352					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)		CGTGGACCCCCCAAGACATTC	0.622																																					p.G380V		.											.	TUBGCP2-90	0			c.G1139T						.						82	74	77					10																	135106162		2203	4300	6503	SO:0001583	missense	10844	exon9			GACCCCCCAAGAC	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.1055G>T	10.37:g.135106162C>A	ENSP00000252936:p.Gly352Val	Somatic	113	2		WXS	Illumina GAIIx	Phase_I	226	68	NM_001256617	0	0	0	0	0	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474224	0.63737	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.93106	3.38	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	T	0.65886	-0.6059	10	0.87932	D	0	-57.4059	16.9761	0.86313	0.0:1.0:0.0:0.0	.	380;380;352	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	V	352;222;352;380	ENSP00000252936:G352V;ENSP00000395666:G222V;ENSP00000357551:G352V;ENSP00000446093:G380V	ENSP00000252936:G352V	G	-	2	0	TUBGCP2	134956152	1.000000	0.71417	0.990000	0.47175	0.030000	0.12068	7.509000	0.81698	2.426000	0.82243	0.484000	0.47621	GGG	.		0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			A	135106162	C	A	135106162	3	1	31	1	0	0	0	0	1	0	0	0	16815	623	22	3	1697	3	TUBGCP2	10	135106162	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	887096	135106162	428585	1484	7036											
ZNF511	118472	hgsc.bcm.edu	37	chr10	135122507	135122507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccggggcggcggagccGctgcctgtagagcgggatcc	20	13	0	1	rs3008357	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135122507G>A	ENST00000359035.3	+	1	63	c.60G>A	c.(58-60)ccG>ccA	p.P20P	TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Silent_p.P20P|TUBGCP2_ENST00000368563.2_5'UTR|TUBGCP2_ENST00000470829.1_5'UTR|ZNF511_ENST00000368554.4_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	20					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)		CGGCGGAGCCGCTGCCTGTAG	0.781													A|||	1022	0.204073	0.3828	0.2176	5008	,	,		7110	0.0635		0.1511	False		,,,				2504	0.1524				p.P20P		.											.	ZNF511-90	0			c.G60A						.						2	2	2					10																	135122507		1305	2802	4107	SO:0001819	synonymous_variant	118472	exon1			GGAGCCGCTGCCT	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.60G>A	10.37:g.135122507G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	39	15	NM_145806	0	0	0	0	0	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37																																																																																				G|0.816;A|0.184		0.781	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		A	135122507	G	A	135122507	2	1	31	1	0	0	0	0	0	0	0	1	18003	1074	38	1		1	ZNF511	10	135122507	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	16345	135122507	412240	1485	7037											
ECHS1	1892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	135179540	135179540	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaattgctggcaattttttCtgcacactggatggcttctt	9	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135179540C>A	ENST00000368547.3	-	6	1034	c.679G>T	c.(679-681)Gaa>Taa	p.E227*		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	227					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GCAATTTTTTCTGCACACTGG	0.468																																					p.E227X	GBM(132;1720 1771 5373 10277 21402)	.											.	ECHS1-90	0			c.G679T						.						180	152	162					10																	135179540		2203	4300	6503	SO:0001587	stop_gained	1892	exon6			TTTTTTCTGCACA		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.679G>T	10.37:g.135179540C>A	ENSP00000357535:p.Glu227*	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	127	28	NM_004092	0	0	0	0	0	O00739|Q5VWY1|Q96H54	Nonsense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	40	8.294809	0.98747	.	.	ENSG00000127884	ENST00000368547	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.0604	0.71947	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000357535:E227X	E	-	1	0	ECHS1	135029530	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.138000	0.71717	2.701000	0.92244	0.555000	0.69702	GAA	.		0.468	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			A	135179540	C	A	135179540	4	1	31	1	0	0	0	0	0	1	0	0	4910	922	32	3	205	3	ECHS1	10	135179540	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	57033	135179540	355207	1486	7038											
MTG1	92170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	135209699	135209699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcaaccctctgtttcaGgaaacccttgggcttaagcc	10	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135209699G>T	ENST00000317502.6	+	3	260	c.210G>T	c.(208-210)caG>caT	p.Q70H	MTG1_ENST00000477902.2_Missense_Mutation_p.Q29H|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.Q75H	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	70	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				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)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTCTGTTTCAGGAAACCCTTG	0.478																																					p.Q70H		.											.	MTG1-91	0			c.G210T						.						205	211	209					10																	135209699		2203	4300	6503	SO:0001583	missense	92170	exon3			GTTTCAGGAAACC		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.210G>T	10.37:g.135209699G>T	ENSP00000323047:p.Gln70His	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	146	24	NM_138384	0	0	0	0	0	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.907092	0.52333	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.13657	2.57;2.57;2.57	5.4	2.54	0.30619	.	1.537360	0.04190	N	0.328237	T	0.23532	0.0569	M	0.70595	2.14	0.50313	D	0.99986	B	0.32543	0.375	B	0.39068	0.289	T	0.01972	-1.1237	10	0.38643	T	0.18	-16.2777	8.3368	0.32219	0.2659:0.0:0.7341:0.0	.	70	Q9BT17	MTG1_HUMAN	H	75;70;70;29	ENSP00000436767:Q75H;ENSP00000323047:Q70H;ENSP00000393480:Q70H	ENSP00000323047:Q70H	Q	+	3	2	AL360181.1;MTG1	135059689	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.649000	0.46656	0.258000	0.21686	0.478000	0.44815	CAG	.		0.478	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		T	135209699	G	T	135209699	3	4	31	1	0	0	0	0	1	0	0	0	9964	991	35	3	220	3	MTG1	10	135209699	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	30159	135209699	325048	1487	7039											
ANO9	338440	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	418479	418479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctgccttccatgccaCatcttctcacgcagcctctg	6	18	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:418479C>T	ENST00000332826.6	-	23	2325	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	747					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCCATGCCACATCTTCTCAC	0.617																																					p.M747I		.											.	ANO9-227	0			c.G2241A						.						104	92	96					11																	418479		2203	4300	6503	SO:0001583	missense	338440	exon23			ATGCCACATCTTC	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2241G>A	11.37:g.418479C>T	ENSP00000332788:p.Met747Ile	Somatic	156	1		WXS	Illumina GAIIx	Phase_I	126	60	NM_001012302	0	0	0	0	0	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	10.40	1.339678	0.24339	.	.	ENSG00000185101	ENST00000332826	T	0.65178	-0.14	3.64	-0.418	0.12344	.	4.389870	0.00934	N	0.002757	T	0.41880	0.1178	N	0.08118	0	0.09310	N	1	B;B	0.20887	0.047;0.049	B;B	0.24006	0.05;0.022	T	0.25676	-1.0125	10	0.27082	T	0.32	.	6.0643	0.19854	0.0:0.4007:0.2346:0.3647	.	448;747	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	I	747	ENSP00000332788:M747I	ENSP00000332788:M747I	M	-	3	0	ANO9	408479	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.126000	0.15769	0.049000	0.15920	-0.362000	0.07510	ATG	.		0.617	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	418479	C	T	418479	3	4	31	1	0	0	0	0	1	0	0	0	704	478	17	3	111	3	ANO9	11	418479	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		418479	134588037	1488	7040											
PHRF1	57661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	607214	607214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcacagggctcagctgtcaAggcaggtcccgcacccccgc	12	17	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:607214A>T	ENST00000264555.5	+	14	1886	c.1758A>T	c.(1756-1758)caA>caT	p.Q586H	PHRF1_ENST00000533464.1_Missense_Mutation_p.Q582H|PHRF1_ENST00000413872.2_Missense_Mutation_p.Q584H|PHRF1_ENST00000416188.2_Missense_Mutation_p.Q585H	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	586					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCAGCTGTCAAGGCAGGTCCC	0.692																																					p.Q585H		.											.	PHRF1-22	0			c.A1755T						.						31	36	34					11																	607214		1860	4107	5967	SO:0001583	missense	57661	exon14			CTGTCAAGGCAGG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1758A>T	11.37:g.607214A>T	ENSP00000264555:p.Gln586His	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	45	32	NM_020901	0	0	0	0	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	A	13.15	2.152474	0.38021	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.45	-5.17	0.02849	.	1.603660	0.03956	N	0.289211	T	0.58061	0.2096	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.36890	-0.9729	10	0.27785	T	0.31	0.2896	3.9731	0.09462	0.3628:0.4173:0.1264:0.0934	.	582;584;585;586	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	H	586;584;585;582	ENSP00000264555:Q586H;ENSP00000388589:Q584H;ENSP00000410626:Q585H;ENSP00000431870:Q582H	ENSP00000264555:Q586H	Q	+	3	2	PHRF1	597214	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.121000	0.03270	-0.873000	0.04032	-0.464000	0.05259	CAA	.		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	607214	A	T	607214	3	4	31	1	0	0	0	0	1	0	0	0	11900	69	3	5	1805	5	PHRF1	11	607214	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	188735	607214	134399302	1489	7041											
EPS8L2	64787	bcgsc.ca	37	chr11	721570	721570	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctctgaccccagcaaatCctcaactgcgccctggacga	7	19	2	1	rs7635	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:721570C>T	ENST00000533256.1	+	11	1149	c.774C>T	c.(772-774)atC>atT	p.I258I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.I258I|EPS8L2_ENST00000526198.1_Silent_p.I274I|EPS8L2_ENST00000318562.8_Silent_p.I258I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	258					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGCAAATCCTCAACTGCG	0.637													c|||	1401	0.279752	0.1884	0.5648	5008	,	,		14025	0.1746		0.4155	False		,,,				2504	0.1697				p.I258I		.											.	EPS8L2-91	0			c.C774T						.			970,3408		127,716,1346	22	27	26		774	3.8	1	11	dbSNP_52	26	3854,4700		888,2078,1311	no	coding-synonymous	EPS8L2	NM_022772.3		1015,2794,2657	TT,TC,CC		45.0549,22.1562,37.3028		258/716	721570	4824,8108	2189	4277	6466	SO:0001819	synonymous_variant	64787	exon10			GCAAATCCTCAAC	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.774C>T	11.37:g.721570C>T		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	175	6	NM_022772	0	0	0	0	0	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	CCDS31328.1																																																																																			C|0.686;T|0.314		0.637	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		T	721570	C	T	721570	2	4	31	1	0	0	0	0	0	0	0	1	5212	845	30	3		3	EPS8L2	11	721570	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	114356	721570	134284946	1490	7042											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	1269567	1269567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacacccacggccaccatGtccacagccacaccctcctc	4	23	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1269567G>T	ENST00000529681.1	+	31	11515	c.11457G>T	c.(11455-11457)atG>atT	p.M3819I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.M3822I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3819	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)		CGGCCACCATGTCCACAGCCA	0.652																																					p.M3819I		.											.	.	0			c.G11457T						.						54	76	68					11																	1269567		2042	4157	6199	SO:0001583	missense	727897	exon31			CACCATGTCCACA	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.11457G>T	11.37:g.1269567G>T	ENSP00000436812:p.Met3819Ile	Somatic	740	1		WXS	Illumina GAIIx	Phase_I	599	261	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	4.177	0.031490	0.08101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18502	2.21;2.39	3.01	-6.03	0.02185	.	.	.	.	.	T	0.09642	0.0237	L	0.27053	0.805	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.08055	0.002;0.003	T	0.22695	-1.0209	9	0.87932	D	0	.	5.9985	0.19507	0.2189:0.0:0.4122:0.3689	.	4347;3822	A7Y9J9;E9PBJ0	.;.	I	3819;3822;3763;3724	ENSP00000436812:M3819I;ENSP00000415793:M3822I	ENSP00000343037:M3763I	M	+	3	0	MUC5B	1226143	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.495000	0.02294	-3.394000	0.00172	0.194000	0.17425	ATG	.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1269567	G	T	1269567	3	4	31	1	0	0	0	0	1	0	0	0	10017	1377	48	3	11588	3	MUC5B	11	1269567	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	547997	1269567	133736949	1491	7043											
BRSK2	9024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1464775	1464775	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagaaggtgaagcgGggcgtgttccacatgccgca	16	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1464775G>T	ENST00000528841.1	+	8	1074	c.690G>T	c.(688-690)cgG>cgT	p.R230R	BRSK2_ENST00000526678.1_Silent_p.R230R|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000308219.9_Silent_p.R230R|BRSK2_ENST00000382179.1_Silent_p.R276R|BRSK2_ENST00000531197.1_Silent_p.R230R|BRSK2_ENST00000528710.1_Silent_p.R170R|BRSK2_ENST00000308230.5_Silent_p.R230R			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGTGAAGCGGGGCGTGTTCC	0.682																																					p.R276R		.											.	BRSK2-333	0			c.G828T						.						23	28	27					11																	1464775		2178	4290	6468	SO:0001819	synonymous_variant	9024	exon8			GAAGCGGGGCGTG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.690G>T	11.37:g.1464775G>T		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	62	34	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																			.		0.682	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		T	1464775	G	T	1464775	2	4	31	1	0	0	0	0	0	0	0	1	1528	1219	43	3		3	BRSK2	11	1464775	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	195208	1464775	133541741	1492	7044											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606164	1606164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagagccacagcccccctTggagcccccacaggagccac	9	19	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1606164T>G	ENST00000382171.2	-	1	349	c.316A>C	c.(316-318)Aag>Cag	p.K106Q	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	106	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCCTTGGAGCCCCCA	0.677																																					p.K106Q		.											.	KRTAP5-1-44	0			c.A316C						.						36	52	46					11																	1606164		2139	4246	6385	SO:0001583	missense	387264	exon1			CCCCCTTGGAGCC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.316A>C	11.37:g.1606164T>G	ENSP00000371606:p.Lys106Gln	Somatic	104	2		WXS	Illumina GAIIx	Phase_I	86	7	NM_001005922	0	0	0	0	0		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	T	0.039	-1.294467	0.01375	.	.	ENSG00000205869	ENST00000382171	T	0.05447	3.44	3.58	1.13	0.20643	.	.	.	.	.	T	0.07052	0.0179	M	0.64567	1.98	0.09310	N	1	B	0.17268	0.021	B	0.16722	0.016	T	0.40887	-0.9539	9	0.26408	T	0.33	.	4.4931	0.11824	0.0:0.1143:0.1992:0.6865	.	106	Q6L8H4	KRA51_HUMAN	Q	106	ENSP00000371606:K106Q	ENSP00000371606:K106Q	K	-	1	0	KRTAP5-1	1562740	0.033000	0.19621	0.008000	0.14137	0.003000	0.03518	0.000000	0.12993	-0.063000	0.13065	-0.836000	0.03065	AAG	.		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		G	1606164	T	G	1606164	3	3	31	1	0	0	0	0	1	0	0	0	8586	1821	63	5	524	5	KRTAP5-1	11	1606164	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	141389	1606164	133400352	1493	7045											
C11orf40	143501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	4592668	4592668	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctacatcagggcagggacttCaagtagttcacatccacatg	9	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:4592668C>G	ENST00000307616.1	-	4	638	c.639G>C	c.(637-639)ttG>ttC	p.L213F		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	213										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		gcagggacttcaagtagttca	0.418																																					p.L213F		.											.	C11orf40-92	0			c.G639C						.						82	72	75					11																	4592668		1989	3819	5808	SO:0001583	missense	143501	exon4			GGACTTCAAGTAG		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.639G>C	11.37:g.4592668C>G	ENSP00000302918:p.Leu213Phe	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	37	22	NM_144663	0	0	0	0	0		Missense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	C	3.354	-0.132015	0.06753	.	.	ENSG00000171987	ENST00000307616	T	0.57273	0.41	0.56	-1.12	0.09808	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.40506	0.331	T	0.17531	-1.0366	8	0.87932	D	0	.	.	.	.	.	213	Q8WZ69	CK040_HUMAN	F	213	ENSP00000302918:L213F	ENSP00000302918:L213F	L	-	3	2	C11orf40	4549244	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.722000	0.04958	-0.484000	0.06763	0.185000	0.17295	TTG	.		0.418	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		G	4592668	C	G	4592668	3	3	31	1	0	0	0	0	1	0	0	0	1644	825	29	3	17	3	C11orf40	11	4592668	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2986504	4592668	130413848	1494	7046											
OR51A4	401666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	4968178	4968178	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaaggagggctctgtcttGatgataaaaagaatggtgcc	13	6	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:4968178G>T	ENST00000380373.2	-	1	178	c.153C>A	c.(151-153)atC>atA	p.I51I	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	51						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)		GCTCTGTCTTGATGATAAAAA	0.433																																					p.I51I		.											.	OR51A4-71	0			c.C153A						.						130	120	123					11																	4968178		2197	4298	6495	SO:0001819	synonymous_variant	401666	exon1			TGTCTTGATGATA	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.153C>A	11.37:g.4968178G>T		Somatic	794	1		WXS	Illumina GAIIx	Phase_I	510	300	NM_001005329	0	0	0	0	0		Silent	SNP	ENST00000380373.2	37	CCDS31367.1																																																																																			.		0.433	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		T	4968178	G	T	4968178	2	4	31	1	0	0	0	0	0	0	0	1	11126	1280	45	3		3	OR51A4	11	4968178	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	375510	4968178	130038338	1495	7047											
OR52E8	390079	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	5878658	5878658	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatttctttggtattgaacCagaagatgcccaacattttg	7	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:5878658C>G	ENST00000537935.1	-	1	306	c.275G>C	c.(274-276)tGg>tCg	p.W92S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	92						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)		GGTATTGAACCAGAAGATGCC	0.473																																					p.W92S		.											.	OR52E8-70	0			c.G275C						.						146	164	158					11																	5878658		2147	4296	6443	SO:0001583	missense	390079	exon1			TTGAACCAGAAGA	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.275G>C	11.37:g.5878658C>G	ENSP00000444054:p.Trp92Ser	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	113	62	NM_001005168	0	0	0	0	0	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958346	0.34565	.	.	ENSG00000183269	ENST00000537935	T	0.00392	7.58	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000069	T	0.01156	0.0038	M	0.85945	2.785	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.65080	-0.6255	10	0.87932	D	0	.	15.6856	0.77409	0.0:1.0:0.0:0.0	.	92	Q6IFG1	O52E8_HUMAN	S	92	ENSP00000444054:W92S	ENSP00000444054:W92S	W	-	2	0	OR52E8	5835234	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	2.470000	0.45119	2.353000	0.79882	0.549000	0.68633	TGG	.		0.473	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		G	5878658	C	G	5878658	3	3	31	1	0	0	0	0	1	0	0	0	11157	595	21	3	680	3	OR52E8	11	5878658	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	910480	5878658	129127858	1496	7048											
FAM160A2	84067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6245247	6245247	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgctcagcccgccgttcctCgaccccatccccaagctcat	6	20	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6245247C>A	ENST00000449352.2	-	3	633	c.370G>T	c.(370-372)Gag>Tag	p.E124*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E124*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E124*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	124					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCGTTCCTCGACCCCATCC	0.592																																					p.E124X		.											.	FAM160A2-92	0			c.G370T						.						52	45	48					11																	6245247		2201	4296	6497	SO:0001587	stop_gained	84067	exon3			GTTCCTCGACCCC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.370G>T	11.37:g.6245247C>A	ENSP00000416918:p.Glu124*	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	73	36	NM_032127	0	0	0	0	0	Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	38	6.886814	0.97912	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.05	5.05	0.67936	.	0.204980	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-26.1163	12.9408	0.58342	0.0:0.837:0.163:0.0	.	.	.	.	X	124;49;124;124	.	ENSP00000265978:E124X	E	-	1	0	FAM160A2	6201823	0.999000	0.42202	0.994000	0.49952	0.997000	0.91878	3.229000	0.51278	2.642000	0.89623	0.655000	0.94253	GAG	.		0.592	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6245247	C	A	6245247	4	1	31	1	0	0	0	0	0	1	0	0	5488	893	31	2	2630	2	FAM160A2	11	6245247	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	366589	6245247	128761269	1497	7049											
DCHS1	8642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6661671	6661671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagtcaccatcatctgggtCtgacacagagatgcgagcaa	10	10	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6661671C>A	ENST00000299441.3	-	2	1585	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	392	Cadherin 4. {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)		TCATCTGGGTCTGACACAGAG	0.567																																					p.D392Y		.											.	DCHS1-73	0			c.G1174T						.						57	55	56					11																	6661671		2201	4296	6497	SO:0001583	missense	8642	exon2			CTGGGTCTGACAC	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.1174G>T	11.37:g.6661671C>A	ENSP00000299441:p.Asp392Tyr	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	69	33	NM_003737	0	0	0	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044279	0.75732	.	.	ENSG00000166341	ENST00000299441	T	0.34667	1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000220	T	0.78780	0.4337	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88192	0.2878	10	0.87932	D	0	.	18.7519	0.91819	0.0:1.0:0.0:0.0	.	392	Q96JQ0	PCD16_HUMAN	Y	392	ENSP00000299441:D392Y	ENSP00000299441:D392Y	D	-	1	0	DCHS1	6618247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.661000	0.90470	0.637000	0.83480	GAC	.		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6661671	C	A	6661671	3	1	31	1	0	0	0	0	1	0	0	0	4296	913	32	3	8802	3	DCHS1	11	6661671	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	416424	6661671	128344845	1498	7050											
OR2D2	120776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6913108	6913108	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaatcagaaaaacaggtatGaggagaatcacaacccccat	8	9	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6913108G>T	ENST00000299459.2	-	1	722	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	208					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAACAGGTATGAGGAGAATCA	0.448																																					p.L208L		.											.	OR2D2-501	0			c.C624A						.						86	82	84					11																	6913108		2201	4296	6497	SO:0001819	synonymous_variant	120776	exon1			AGGTATGAGGAGA	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.624C>A	11.37:g.6913108G>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	68	37	NM_003700	0	0	0	0	0	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	CCDS31416.1																																																																																			.		0.448	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		T	6913108	G	T	6913108	2	4	31	1	0	0	0	0	0	0	0	1	11033	1277	45	3		3	OR2D2	11	6913108	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	251437	6913108	128093408	1499	7051											
OR2D3	120775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6942958	6942958	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatattatctccactgttatCcagatgcagtctggggaagg	10	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6942958C>A	ENST00000317834.3	+	1	754	c.726C>A	c.(724-726)atC>atA	p.I242I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	242						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)		CCACTGTTATCCAGATGCAGT	0.468																																					p.I242I		.											.	OR2D3-68	0			c.C726A						.						113	101	105					11																	6942958		2201	4296	6497	SO:0001819	synonymous_variant	120775	exon1			TGTTATCCAGATG	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.726C>A	11.37:g.6942958C>A		Somatic	213	0		WXS	Illumina GAIIx	Phase_I	146	75	NM_001004684	0	0	0	0	0	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																			.		0.468	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		A	6942958	C	A	6942958	2	1	31	1	0	0	0	0	0	0	0	1	11034	845	30	3		3	OR2D3	11	6942958	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	29850	6942958	128063558	1500	7052											
OR5P2	120065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	7817640	7817640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgaggctgtagatcaGggggttcaacatgggaatca	14	7	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:7817640G>T	ENST00000329434.2	-	1	880	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	284						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)		CTGTAGATCAGGGGGTTCAAC	0.418																																					p.L284M		.											.	OR5P2-496	0			c.C850A						.						97	112	107					11																	7817640		2104	4292	6396	SO:0001583	missense	120065	exon1			AGATCAGGGGGTT	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.850C>A	11.37:g.7817640G>T	ENSP00000331823:p.Leu284Met	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	206	119	NM_153444	0	0	0	0	0	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874158	0.51695	.	.	ENSG00000183303	ENST00000329434	T	0.45668	0.89	5.46	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.376551	0.22866	N	0.054695	T	0.37919	0.1021	L	0.28649	0.875	0.31167	N	0.703637	P	0.40875	0.731	P	0.48770	0.589	T	0.43180	-0.9407	10	0.62326	D	0.03	-58.1259	8.2007	0.31424	0.0764:0.0:0.6242:0.2994	.	284	Q8WZ92	OR5P2_HUMAN	M	284	ENSP00000331823:L284M	ENSP00000331823:L284M	L	-	1	2	OR5P2	7774216	0.000000	0.05858	1.000000	0.80357	0.869000	0.49853	-0.338000	0.07842	0.798000	0.33994	0.549000	0.68633	CTG	.		0.418	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7817640	G	T	7817640	3	4	31	1	0	0	0	0	1	0	0	0	11217	991	35	3	122	3	OR5P2	11	7817640	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	874682	7817640	127188876	1501	7053											
NLRP10	338322	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	7981838	7981839	+	Frame_Shift_Ins	INS	-	-	T													aggaaagcggcaagcctgggINSgccatctaaattatgtttcc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:7981838_7981839insT	ENST00000328600.2	-	2	1481_1482	c.1320_1321insA	c.(1318-1323)ggccccfs	p.P441fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	441	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAAGCCTGGGGCCATCTAAAT	0.495																																					p.P441fs		.											.	NLRP10-209	0			c.1321_1322insA						.																																			SO:0001589	frameshift_variant	338322	exon2			GCCTGGGGCCATC	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1320_1321insA	11.37:g.7981838_7981839insT	ENSP00000327763:p.Pro441fs	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	54	30	NM_176821	0	0	0	0	0	Q2M3C4|Q6JGT0	Frame_Shift_Ins	INS	ENST00000328600.2	37	CCDS7784.1																																																																																			.		0.495	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7981839	-	T	7981838	7	5	31	1	0	1	1	0	0	0	0	0	10511	1232	43	0	650	0	NLRP10	11	7981838	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	164198	7981838	127024678	1502	7054											
SBF2	81846	bcgsc.ca	37	chr11	10019853	10019853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgtagaagtggttctGggagggaagagaggtgaata	17	2	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:10019853G>T	ENST00000256190.8	-	9	1072	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	312					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGTGGTTCTGGGAGGGAAGA	0.333																																					p.P312Q		.											.	SBF2-93	0			c.C935A						.						107	111	110					11																	10019853		2201	4294	6495	SO:0001583	missense	81846	exon9			GGTTCTGGGAGGG	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.935C>A	11.37:g.10019853G>T	ENSP00000256190:p.Pro312Gln	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_030962	0	0	0	0	0	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858764	0.91433	.	.	ENSG00000133812	ENST00000256190	D	0.92495	-3.05	5.26	5.26	0.73747	.	0.123114	0.56097	D	0.000028	D	0.96078	0.8722	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.95890	0.8906	9	.	.	.	.	18.8668	0.92294	0.0:0.0:1.0:0.0	.	312	Q86WG5	MTMRD_HUMAN	Q	312	ENSP00000256190:P312Q	.	P	-	2	0	SBF2	9976429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.452000	0.82932	0.585000	0.79938	CCA	.		0.333	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	10019853	G	T	10019853	3	4	31	1	0	0	0	0	1	0	0	0	13904	1348	47	3	4742	3	SBF2	11	10019853	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2038015	10019853	124986663	1503	7055											
ADM	133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	10328160	10328160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacggggctccagccccccCgagtggaagtgctccccact	11	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:10328160C>A	ENST00000528655.1	+	3	1147	c.530C>A	c.(529-531)cCg>cAg	p.P177Q	ADM_ENST00000525063.1_Missense_Mutation_p.P177Q|ADM_ENST00000278175.5_Missense_Mutation_p.P177Q|ADM_ENST00000534464.1_Missense_Mutation_p.P130Q|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000530439.1_Missense_Mutation_p.P109Q			P35318	ADML_HUMAN	adrenomedullin	177					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|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 vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CCAGCCCCCCCGAGTGGAAGT	0.667																																					p.P177Q		.											.	ADM-514	0			c.C530A						.						17	21	19					11																	10328160		2152	4196	6348	SO:0001583	missense	133	exon4			CCCCCCCGAGTGG	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.530C>A	11.37:g.10328160C>A	ENSP00000436607:p.Pro177Gln	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	118	70	NM_001124	0	0	0	0	0	B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848613	0.32699	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.47528	1.48;1.45;0.84;1.48;1.48	5.43	-3.79	0.04320	.	4.063620	0.00931	N	0.002702	T	0.24890	0.0604	N	0.08118	0	0.18873	N	0.999987	D	0.60160	0.987	B	0.42995	0.404	T	0.16217	-1.0410	10	0.20046	T	0.44	8.8112	5.0837	0.14671	0.3172:0.2837:0.3359:0.0633	.	177	P35318	ADML_HUMAN	Q	177;130;109;177;177	ENSP00000278175:P177Q;ENSP00000431438:P130Q;ENSP00000436837:P109Q;ENSP00000436607:P177Q;ENSP00000435124:P177Q	ENSP00000278175:P177Q	P	+	2	0	ADM	10284736	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.945000	0.03909	-0.486000	0.06744	-0.311000	0.09066	CCG	.		0.667	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		A	10328160	C	A	10328160	3	1	31	1	0	0	0	0	1	0	0	0	321	652	23	2	540	2	ADM	11	10328160	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	308307	10328160	124678356	1504	7056											
SPON1	10418	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	14063180	14063180	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggatagcaccaccagcggGaacaggctgcgtgattctga	13	10	1	2	rs543468968		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:14063180G>A	ENST00000310358.7	+	0	996							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCACCAGCGGGAACAGGCTGC	0.458																																					.		.											.	SPON1-1	0			.						.						89	90	90					11																	14063180		1913	4139	6052			10418	.			CAGCGGGAACAGG	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063180G>A		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	57	30	.	0	0	0	0	0	A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.696594	0.88830	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.01	5.01	0.66863	Reeler domain (2);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	L	0.46885	1.475	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.75578	-0.3269	8	0.87932	D	0	.	16.1804	0.81895	0.0:0.0:1.0:0.0	.	153	Q9HCB6	SPON1_HUMAN	E	153	.	ENSP00000309297:G153E	G	+	2	0	SPON1	14019756	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	9.024000	0.93689	2.476000	0.83614	0.655000	0.94253	GGA	.		0.458	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		A	14063180	G	A	14063180	1	1	31	0	1	0	0	0	0	0	0	0	15129	1174	41	3		3	SPON1	11	14063180	RNA	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3735020	14063180	120943336	1505	7057											
INSC	387755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	15197588	15197588	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgcccgctccatggtcagcGagtacagtgctgtcagcagg	13	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:15197588G>T	ENST00000379554.3	+	3	545	c.499G>T	c.(499-501)Gag>Tag	p.E167*	INSC_ENST00000530161.1_Nonsense_Mutation_p.E120*|INSC_ENST00000525218.1_Nonsense_Mutation_p.E120*|INSC_ENST00000528567.1_Nonsense_Mutation_p.E120*|INSC_ENST00000424273.1_Nonsense_Mutation_p.E120*|INSC_ENST00000379556.3_Nonsense_Mutation_p.E120*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	167					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATGGTCAGCGAGTACAGTGC	0.622																																					p.E167X		.											.	INSC-94	0			c.G499T						.						16	17	17					11																	15197588		2056	4206	6262	SO:0001587	stop_gained	387755	exon3			GTCAGCGAGTACA	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.499G>T	11.37:g.15197588G>T	ENSP00000368872:p.Glu167*	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	146	59	NM_001031853	0	0	0	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Nonsense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	37	6.554867	0.97658	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	.	.	.	5.08	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.3182	12.9226	0.58241	0.0783:0.0:0.9217:0.0	.	.	.	.	X	167;120;120;120;120;120;120	.	ENSP00000368872:E167X	E	+	1	0	INSC	15154164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	2.360000	0.80028	0.462000	0.41574	GAG	.		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15197588	G	T	15197588	4	4	31	1	0	0	0	0	0	1	0	0	7791	1059	37	2	509	2	INSC	11	15197588	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1134408	15197588	119808928	1506	7058											
SOX6	55553	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	16256218	16256218	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttccatgcaggaggaatCtattaaaatacaaaagtaag	7	5	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:16256218C>A	ENST00000352083.6	-	4	523		c.e4-1		SOX6_ENST00000316399.6_Splice_Site|SOX6_ENST00000396356.3_Splice_Site|SOX6_ENST00000528429.1_Splice_Site|SOX6_ENST00000528252.1_Splice_Site|SOX6_ENST00000527619.1_Splice_Site			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6						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						CAGGAGGAATCTATTAAAATA	0.269																																					.		.											.	SOX6-93	0			c.446-1G>T						.						54	49	51					11																	16256218		2194	4280	6474	SO:0001630	splice_region_variant	55553	exon5			AGGAATCTATTAA	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.446-1G>T	11.37:g.16256218C>A		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_001145811	0	0	0	0	0	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Splice_Site	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	17.45	3.391446	0.62066	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6372	0.45571	0.0:0.876:0.0:0.124	.	.	.	.	.	-1	.	.	.	-	.	.	SOX6	16212794	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.331000	0.79192	2.539000	0.85634	0.655000	0.94253	.	.		0.269	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	Intron	A	16256218	C	A	16256218	5	1	31	1	0	0	0	0	0	0	1	0	15000	927	32	3	2135	3	SOX6	11	16256218	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1058630	16256218	118750298	1507	7059											
USH1C	10083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	17552712	17552712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgctcacctggagcccgaCgctgtctgcctgaccgcctt	10	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:17552712C>A	ENST00000318024.4	-	4	484	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	USH1C_ENST00000527020.1_Missense_Mutation_p.V126F|USH1C_ENST00000527720.1_Missense_Mutation_p.V95F|USH1C_ENST00000005226.7_Missense_Mutation_p.V126F	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	126	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.V126I(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGAGCCCGACGCTGTCTGCC	0.642																																					p.V126F		.											.	USH1C-91	1	Substitution - Missense(1)	prostate(1)	c.G376T						.						37	40	39					11																	17552712		2200	4293	6493	SO:0001583	missense	10083	exon4			GCCCGACGCTGTC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.376G>T	11.37:g.17552712C>A	ENSP00000317018:p.Val126Phe	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	128	73	NM_005709	0	0	0	0	0	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153311	0.78114	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.39	4.48	0.54585	PDZ/DHR/GLGF (4);	0.055949	0.64402	D	0.000001	T	0.36441	0.0967	L	0.35414	1.06	0.54753	D	0.999983	D;D;D	0.89917	0.996;0.993;1.0	D;D;D	0.76575	0.915;0.915;0.988	T	0.12142	-1.0559	10	0.59425	D	0.04	.	9.4929	0.38971	0.0:0.8357:0.0:0.1643	.	126;126;126	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	F	126;95;126;126;137	ENSP00000317018:V126F;ENSP00000432944:V95F;ENSP00000436934:V126F;ENSP00000005226:V126F;ENSP00000437128:V137F	ENSP00000005226:V126F	V	-	1	0	USH1C	17509288	0.992000	0.36948	0.916000	0.36221	0.979000	0.70002	3.176000	0.50863	1.413000	0.46997	0.561000	0.74099	GTC	.		0.642	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		A	17552712	C	A	17552712	3	1	31	1	0	0	0	0	1	0	0	0	17083	536	19	2	2497	2	USH1C	11	17552712	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1296494	17552712	117453804	1508	7060											
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	21596527	21596527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgtacagaatggaagaGtctgttgttctgtggatttt	12	3	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:21596527G>T	ENST00000357134.5	+	20	2544	c.2392G>T	c.(2392-2394)Gtc>Ttc	p.V798F	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.V741F|NELL1_ENST00000532434.1_Missense_Mutation_p.V751F|NELL1_ENST00000298925.5_Missense_Mutation_p.V826F	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	798					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						GAATGGAAGAGTCTGTTGTTC	0.353																																					p.V798F		.											.	NELL1-155	0			c.G2392T						.						189	170	177					11																	21596527		2203	4300	6503	SO:0001583	missense	4745	exon20			GGAAGAGTCTGTT	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.2392G>T	11.37:g.21596527G>T	ENSP00000349654:p.Val798Phe	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	58	26	NM_006157	0	0	0	0	0	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965455	0.74131	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;T;T	0.82433	-1.61;-1.58;-1.49;-1.47	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.89959	0.6866	M	0.64997	1.995	0.52099	D	0.999945	D;D;D;D;D	0.65815	0.992;0.986;0.995;0.995;0.986	P;P;P;D;P	0.69654	0.907;0.809;0.873;0.965;0.809	D	0.86228	0.1635	10	0.30078	T	0.28	-19.9688	20.8794	0.99867	0.0:0.0:1.0:0.0	.	741;826;343;751;798	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	F	826;798;741;751	ENSP00000298925:V826F;ENSP00000349654:V798F;ENSP00000317837:V741F;ENSP00000437170:V751F	ENSP00000298925:V826F	V	+	1	0	NELL1	21553103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.590000	0.53979	2.941000	0.99782	0.655000	0.94253	GTC	.		0.353	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21596527	G	T	21596527	3	4	31	1	0	0	0	0	1	0	0	0	10372	1029	36	3	2470	3	NELL1	11	21596527	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4043815	21596527	113409989	1509	7061											
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	22363120	22363120	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggagacaatcgagctgacgGaggatgggaagcccctagag	17	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:22363120G>C	ENST00000263160.3	+	2	570	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	45					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						CGAGCTGACGGAGGATGGGAA	0.647																																					p.E45Q		.											.	SLC17A6-580	0			c.G133C						.						62	67	65					11																	22363120		2203	4300	6503	SO:0001583	missense	57084	exon2			CTGACGGAGGATG	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.133G>C	11.37:g.22363120G>C	ENSP00000263160:p.Glu45Gln	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	57	33	NM_020346	0	0	0	0	0	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227156	0.79576	.	.	ENSG00000091664	ENST00000263160	T	0.62364	0.03	5.79	5.79	0.91817	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.52759	1.655	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	T	0.56135	-0.8029	10	0.42905	T	0.14	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	45	Q9P2U8	VGLU2_HUMAN	Q	45	ENSP00000263160:E45Q	ENSP00000263160:E45Q	E	+	1	0	SLC17A6	22319696	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.744000	0.94065	0.650000	0.86243	GAG	.		0.647	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		C	22363120	G	C	22363120	3	2	31	1	0	0	0	0	1	0	0	0	14466	1175	41	3	139	3	SLC17A6	11	22363120	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	766593	22363120	112643396	1510	7062											
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	22399006	22399006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccctagtccactatggtgGagttatattttatgcaatat	8	7	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:22399006G>T	ENST00000263160.3	+	12	1906	c.1469G>T	c.(1468-1470)gGa>gTa	p.G490V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	490					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						CACTATGGTGGAGTTATATTT	0.448																																					p.G490V		.											.	SLC17A6-580	0			c.G1469T						.						77	77	77					11																	22399006		2203	4300	6503	SO:0001583	missense	57084	exon12			ATGGTGGAGTTAT	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.1469G>T	11.37:g.22399006G>T	ENSP00000263160:p.Gly490Val	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	88	51	NM_020346	0	0	0	0	0	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860997	0.71949	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61158	0.13	5.98	5.98	0.97165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.097108	0.64402	D	0.000001	D	0.83119	0.5185	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85953	0.1465	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	490	Q9P2U8	VGLU2_HUMAN	V	490;378	ENSP00000263160:G490V	ENSP00000263160:G490V	G	+	2	0	SLC17A6	22355582	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	GGA	.		0.448	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		T	22399006	G	T	22399006	3	4	31	1	0	0	0	0	1	0	0	0	14466	1174	41	3	1515	3	SLC17A6	11	22399006	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	35886	22399006	112607510	1511	7063											
KCNA4	3739	hgsc.bcm.edu	37	chr11	30034154	30034154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctcccgggcccgggcCtgggcagcataaccataagg	13	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:30034154C>A	ENST00000328224.6	-	2	1305	c.72G>T	c.(70-72)caG>caT	p.Q24H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	24					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGGCCCGGGCCTGGGCAGCAT	0.622																																					p.Q24H		.											.	KCNA4-517	0			c.G72T						.						67	68	67					11																	30034154		1929	4128	6057	SO:0001583	missense	3739	exon2			CCGGGCCTGGGCA	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.72G>T	11.37:g.30034154C>A	ENSP00000328511:p.Gln24His	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	19	6	NM_002233	0	0	0	0	0		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202191	0.38905	.	.	ENSG00000182255	ENST00000328224	D	0.97620	-4.46	4.97	3.07	0.35406	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	341.984000	0.00166	N	0.000011	D	0.96537	0.8870	N	0.24115	0.695	0.45580	D	0.998524	D	0.65815	0.995	D	0.65684	0.937	D	0.90219	0.4270	10	0.66056	D	0.02	.	4.2006	0.10464	0.1783:0.5695:0.0:0.2522	.	24	P22459	KCNA4_HUMAN	H	24	ENSP00000328511:Q24H	ENSP00000328511:Q24H	Q	-	3	2	KCNA4	29990730	0.976000	0.34144	1.000000	0.80357	0.631000	0.37964	0.168000	0.16622	1.075000	0.40932	-0.181000	0.13052	CAG	.		0.622	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30034154	C	A	30034154	3	1	31	1	0	0	0	0	1	0	0	0	8032	680	24	3	1893	3	KCNA4	11	30034154	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7635148	30034154	104972362	1512	7064											
WT1	7490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	32414240	32414240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttggtgtcttttgagCtggtctgaacgagaaaacct	10	9	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32414240C>A	ENST00000379079.2	-	8	948	c.675G>T	c.(673-675)caG>caT	p.Q225H	WT1_ENST00000530998.1_Missense_Mutation_p.Q208H|WT1_ENST00000332351.3_Missense_Mutation_p.Q437H|WT1_ENST00000448076.3_Missense_Mutation_p.Q437H	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	369					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCTTTTGAGCTGGTCTGAAC	0.438			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.Q437H		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G1311T	GRCh37	CM065521	WT1	M		.						191	159	170					11																	32414240		2202	4299	6501	SO:0001583	missense	7490	exon8	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTTGAGCTGGTCT		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.675G>T	11.37:g.32414240C>A	ENSP00000368370:p.Gln225His	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	142	80	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004486	0.74932	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.73	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000004	T	0.27866	0.0686	N	0.00808	-1.17	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.998;0.995;0.997;0.998;0.997	D;D;D;D;D	0.77557	0.98;0.99;0.985;0.979;0.983	T	0.33007	-0.9885	10	0.37606	T	0.19	.	6.9979	0.24793	0.0:0.6674:0.0:0.3326	.	425;369;442;208;225	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	H	225;437;208;420;437	ENSP00000368370:Q225H;ENSP00000331327:Q437H;ENSP00000435307:Q208H;ENSP00000415516:Q420H;ENSP00000413452:Q437H	ENSP00000331327:Q437H	Q	-	3	2	WT1	32370816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.115000	0.41921	1.572000	0.49736	0.555000	0.69702	CAG	.		0.438	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		A	32414240	C	A	32414240	3	1	31	1	0	0	0	0	1	0	0	0	17457	796	28	3	254	3	WT1	11	32414240	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2380086	32414240	102592276	1513	7065											
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	32635948	32635948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatttctgacatggaacaGgatttttttttatatctaga	6	4	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32635948G>T	ENST00000335185.5	-	16	1959	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	639										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACATGGAACAGGATTTTTTTT	0.313																																					p.I639K		.											.	CCDC73-91	0			c.T1916A						.						63	57	59					11																	32635948		1803	4078	5881	SO:0001583	missense	493860	exon16			GGAACAGGATTTT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1916C>A	11.37:g.32635948G>T	ENSP00000335325:p.Pro639His	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	38	21	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.434823	0.01108	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.76	0.142	0.14816	.	1.323950	0.05061	N	0.479834	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18999	-1.0319	9	0.15066	T	0.55	.	3.2741	0.06892	0.2435:0.1155:0.5236:0.1174	.	639	Q6ZRK6	CCD73_HUMAN	H	639	.	ENSP00000335325:P639H	P	-	2	0	CCDC73	32592524	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	-0.099000	0.12263	-1.579000	0.00862	CCT	.		0.313	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32635948	G	T	32635948	3	4	31	1	0	0	0	0	1	0	0	0	2853	1000	35	3	1335	3	CCDC73	11	32635948	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	221708	32635948	102370568	1514	7066											
QSER1	79832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	32956724	32956724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctaacaggactagacGgccagggacccagatggttc	12	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32956724G>T	ENST00000399302.2	+	4	3868	c.3533G>T	c.(3532-3534)cGg>cTg	p.R1178L	QSER1_ENST00000527788.1_Missense_Mutation_p.R939L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1178										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)					AGGACTAGACGGCCAGGGACC	0.478																																					p.R1178L		.											.	QSER1-95	0			c.G3533T						.						100	101	101					11																	32956724		1904	4108	6012	SO:0001583	missense	79832	exon4			CTAGACGGCCAGG	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.3533G>T	11.37:g.32956724G>T	ENSP00000382241:p.Arg1178Leu	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	68	35	NM_001076786	0	0	0	0	0	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.55|18.55	3.648071|3.648071	0.67358|0.67358	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.24151	.|2.2;1.87	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.53658|0.53658	0.1810|0.1810	M|M	0.73598|0.73598	2.24|2.24	0.46901|0.46901	D|D	0.999245|0.999245	.|D;P;D	.|0.89917	.|1.0;0.928;0.999	.|D;P;D	.|0.87578	.|0.998;0.524;0.931	T|T	0.54241|0.54241	-0.8323|-0.8323	5|10	.|0.51188	.|T	.|0.08	.|.	18.9689|18.9689	0.92707|0.92707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|939;939;1178	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	C|L	199|1178;939;939	.|ENSP00000382241:R1178L;ENSP00000432766:R939L	.|ENSP00000078652:R939L	G|R	+|+	1|2	0|0	QSER1|QSER1	32913300|32913300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.193000|5.193000	0.65120|0.65120	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	GGC|CGG	.		0.478	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32956724	G	T	32956724	3	4	31	1	0	0	0	0	1	0	0	0	12927	1116	39	2	3539	2	QSER1	11	32956724	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	320776	32956724	102049792	1515	7067											
C11orf41	25758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	33564462	33564462	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctaacccgctgcatttgtcAgcagctccagagaattccag	9	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:33564462A>T	ENST00000321505.4	+	1	642	c.462A>T	c.(460-462)tcA>tcT	p.S154S	KIAA1549L_ENST00000389726.3_Silent_p.S154S|KIAA1549L_ENST00000265654.5_Silent_p.S154S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	154						integral component of membrane (GO:0016021)											TGCATTTGTCAGCAGCTCCAG	0.532											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S154S		.											.	.	0			c.A462T						.						82	80	81					11																	33564462		1898	4111	6009	SO:0001819	synonymous_variant	25758	exon1			TTTGTCAGCAGCT	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.462A>T	11.37:g.33564462A>T		Somatic	94	0	841	WXS	Illumina GAIIx	Phase_I	65	33	NM_012194	0	0	0	0	0	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.		0.532	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33564462	A	T	33564462	2	4	31	1	0	0	0	0	0	0	0	1	1645	175	7	5		5	C11orf41	11	33564462	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	607738	33564462	101442054	1516	7068											
PAMR1	25891	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	35453941	35453941	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatccagtctttaaaaggcAgcaccttggtgaaggcagtg	11	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:35453941A>C	ENST00000378880.2	-	11	2571	c.2126T>G	c.(2125-2127)cTg>cGg	p.L709R	PAMR1_ENST00000278360.3_Missense_Mutation_p.L726R|PAMR1_ENST00000532848.1_Missense_Mutation_p.L669R|PAMR1_ENST00000378878.3_Missense_Mutation_p.L598R	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	709	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTAAAAGGCAGCACCTTGGT	0.483																																					p.L726R		.											.	PAMR1-70	0			c.T2177G						.						111	104	106					11																	35453941		2202	4298	6500	SO:0001583	missense	25891	exon12			AAAGGCAGCACCT		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2126T>G	11.37:g.35453941A>C	ENSP00000368158:p.Leu709Arg	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	45	21	NM_015430	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001327	0.54254	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.4	5.4	0.78164	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.311160	0.30630	N	0.009212	D	0.91720	0.7382	N	0.19112	0.55	0.40834	D	0.983614	D;P;P	0.61080	0.989;0.773;0.731	P;P;B	0.53450	0.726;0.58;0.347	D	0.93570	0.6903	10	0.87932	D	0	.	15.7223	0.77721	1.0:0.0:0.0:0.0	.	598;709;726	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	R	726;709;598;669	ENSP00000278360:L726R;ENSP00000368158:L709R;ENSP00000368156:L598R;ENSP00000433868:L669R	ENSP00000278360:L726R	L	-	2	0	PAMR1	35410517	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.033000	0.64146	2.170000	0.68504	0.454000	0.30748	CTG	.		0.483	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		C	35453941	A	C	35453941	3	2	31	1	0	0	0	0	1	0	0	0	11452	188	7	5	40	5	PAMR1	11	35453941	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1889479	35453941	99552575	1517	7069											
PAMR1	25891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	35457622	35457622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggctggcttcttggtagGggcactctgcagtttctgct	14	9	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:35457622G>T	ENST00000378880.2	-	9	1607	c.1162C>A	c.(1162-1164)Cct>Act	p.P388T	PAMR1_ENST00000278360.3_Missense_Mutation_p.P405T|PAMR1_ENST00000532848.1_Missense_Mutation_p.P348T|PAMR1_ENST00000378878.3_Missense_Mutation_p.P277T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	388	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTCTTGGTAGGGGCACTCTGC	0.557																																					p.P405T		.											.	PAMR1-70	0			c.C1213A						.						212	196	201					11																	35457622		2202	4298	6500	SO:0001583	missense	25891	exon10			TGGTAGGGGCACT		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1162C>A	11.37:g.35457622G>T	ENSP00000368158:p.Pro388Thr	Somatic	308	0		WXS	Illumina GAIIx	Phase_I	255	142	NM_015430	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.928105	0.18131	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89415	-2.39;-2.39;-2.51;-2.4;-2.33	5.54	2.58	0.30949	Sushi/SCR/CCP (1);	0.100972	0.64402	D	0.000001	T	0.80899	0.4712	N	0.19112	0.55	0.45150	D	0.998167	P;B;B	0.39352	0.669;0.193;0.29	B;B;B	0.41374	0.355;0.119;0.154	T	0.77222	-0.2667	10	0.87932	D	0	.	8.2575	0.31765	0.1437:0.1292:0.7271:0.0	.	277;388;405	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	T	405;388;277;348;365	ENSP00000278360:P405T;ENSP00000368158:P388T;ENSP00000368156:P277T;ENSP00000433868:P348T;ENSP00000432591:P365T	ENSP00000278360:P405T	P	-	1	0	PAMR1	35414198	1.000000	0.71417	0.928000	0.36995	0.968000	0.65278	6.177000	0.71961	0.269000	0.21961	0.561000	0.74099	CCT	.		0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		T	35457622	G	T	35457622	3	4	31	1	0	0	0	0	1	0	0	0	11452	1232	43	3	1012	3	PAMR1	11	35457622	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3681	35457622	99548894	1518	7070											
RAG1	5896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	36596616	36596616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagatcccaagaccttgatGattacctgaatggccccttc	8	12	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:36596616G>T	ENST00000299440.5	+	2	1874	c.1762G>T	c.(1762-1764)Gat>Tat	p.D588Y		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	588					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)				AGACCTTGATGATTACCTGAA	0.488									Familial Hemophagocytic Lymphohistiocytosis																												p.D588Y	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	.											.	RAG1-230	0			c.G1762T						.						116	97	103					11																	36596616		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CTTGATGATTACC	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.1762G>T	11.37:g.36596616G>T	ENSP00000299440:p.Asp588Tyr	Somatic	198	1		WXS	Illumina GAIIx	Phase_I	136	75	NM_000448	0	0	0	0	0	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746587	0.30955	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87491	-2.26;-2.26	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96454	0.9336	10	0.87932	D	0	.	15.1294	0.72511	0.0676:0.0:0.9324:0.0	.	588	P15918	RAG1_HUMAN	Y	588	ENSP00000434610:D588Y;ENSP00000299440:D588Y	ENSP00000299440:D588Y	D	+	1	0	RAG1	36553192	1.000000	0.71417	0.034000	0.17996	0.120000	0.20174	9.476000	0.97823	1.526000	0.49068	0.644000	0.83932	GAT	.		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		T	36596616	G	T	36596616	3	4	31	1	0	0	0	0	1	0	0	0	13048	1290	45	3	1764	3	RAG1	11	36596616	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1138994	36596616	98409900	1519	7071											
LRRC4C	57689	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	40137767	40137767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagcagcaccacaagcaGggggtcaaatagggccctgt	13	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:40137767G>T	ENST00000278198.2	-	2	2039	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	LRRC4C_ENST00000527150.1_Missense_Mutation_p.L26M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L26M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L26M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	26					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCACAAGCAGGGGGTCAAAT	0.502																																					p.L26M		.											.	LRRC4C-521	0			c.C76A						.						76	75	75					11																	40137767		2203	4300	6503	SO:0001583	missense	57689	exon7			CAAGCAGGGGGTC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.76C>A	11.37:g.40137767G>T	ENSP00000278198:p.Leu26Met	Somatic	171	1		WXS	Illumina GAIIx	Phase_I	136	69	NM_001258419	0	0	0	0	0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729281	0.69074	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.76	5.76	0.90799	.	0.077291	0.52532	D	0.000070	T	0.53334	0.1790	L	0.29908	0.895	0.49130	D	0.999755	P	0.42757	0.789	B	0.43018	0.405	T	0.55730	-0.8095	10	0.54805	T	0.06	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	26	Q9HCJ2	LRC4C_HUMAN	M	26	ENSP00000278198:L26M;ENSP00000436976:L26M;ENSP00000437132:L26M;ENSP00000434761:L26M	ENSP00000278198:L26M	L	-	1	2	LRRC4C	40094343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.197000	0.72100	2.719000	0.93026	0.650000	0.86243	CTG	.		0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40137767	G	T	40137767	3	4	31	1	0	0	0	0	1	0	0	0	9043	991	35	3	1850	3	LRRC4C	11	40137767	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3541151	40137767	94868749	1520	7072											
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	46880716	46880716	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctggatggacaccgtgtCtgtcttcatgcatacatgat	11	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:46880716C>A	ENST00000378623.1	-	38	5778	c.5536G>T	c.(5536-5538)Gac>Tac	p.D1846Y	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1846					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)		GACACCGTGTCTGTCTTCATG	0.577																																					p.D1846Y		.											.	LRP4-94	0			c.G5536T						.						94	81	86					11																	46880716		2201	4299	6500	SO:0001583	missense	4038	exon38			CCGTGTCTGTCTT	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.5536G>T	11.37:g.46880716C>A	ENSP00000367888:p.Asp1846Tyr	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	87	27	NM_002334	0	0	0	0	0	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085919	0.94100	.	.	ENSG00000134569	ENST00000378623	D	0.91464	-2.85	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	D	0.91912	0.5540	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1846	O75096	LRP4_HUMAN	Y	1846	ENSP00000367888:D1846Y	ENSP00000367888:D1846Y	D	-	1	0	LRP4	46837292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.882000	0.98803	0.655000	0.94253	GAC	.		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46880716	C	A	46880716	3	1	31	1	0	0	0	0	1	0	0	0	8994	913	32	3	185	3	LRP4	11	46880716	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6742949	46880716	88125800	1521	7073											
OR4S1	256148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	48328090	48328090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttttctgcccacttctttGgtggcactgagatcttcctc	7	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:48328090G>C	ENST00000319988.1	+	1	316	c.316G>C	c.(316-318)Ggt>Cgt	p.G106R		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCACTTCTTTGGTGGCACTGA	0.507																																					p.G106R		.											.	OR4S1-69	0			c.G316C						.						119	104	109					11																	48328090		2201	4288	6489	SO:0001583	missense	256148	exon1			TTCTTTGGTGGCA	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.316G>C	11.37:g.48328090G>C	ENSP00000321447:p.Gly106Arg	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	84	52	NM_001004725	0	0	0	0	0	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819066	0.50633	.	.	ENSG00000176555	ENST00000319988	T	0.00301	8.21	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.96889	3.9	0.27647	N	0.947517	D	0.89917	1.0	D	0.80764	0.994	T	0.09707	-1.0662	9	0.72032	D	0.01	.	12.7967	0.57564	0.0:0.0:0.8347:0.1653	.	106	Q8NGB4	OR4S1_HUMAN	R	106	ENSP00000321447:G106R	ENSP00000321447:G106R	G	+	1	0	OR4S1	48284666	0.413000	0.25400	0.872000	0.34217	0.351000	0.29236	2.471000	0.45127	1.229000	0.43630	-0.181000	0.13052	GGT	.		0.507	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		C	48328090	G	C	48328090	3	2	31	1	0	0	0	0	1	0	0	0	11121	1348	47	3	318	3	OR4S1	11	48328090	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1447374	48328090	86678426	1522	7074											
FOLH1	2346	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	49195014	49195014	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagtcccggtgacctcccaGaatgacatatctgtctagaa	9	11	2	5	rs539478487		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:49195014G>A	ENST00000256999.2	-	10	1380	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	FOLH1_ENST00000340334.7_Silent_p.L359L|FOLH1_ENST00000343844.4_Silent_p.L66L|FOLH1_ENST00000533034.1_Silent_p.L359L|FOLH1_ENST00000356696.3_Silent_p.L374L|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	374	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGACCTCCCAGAATGACATAT	0.388																																					p.L374L		.											.	FOLH1-579	0			c.C1120T						.						132	123	126					11																	49195014		2201	4295	6496	SO:0001819	synonymous_variant	2346	exon10			CTCCCAGAATGAC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1120C>T	11.37:g.49195014G>A		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	80	38	NM_004476	0	0	0	0	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																			.		0.388	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		A	49195014	G	A	49195014	2	1	31	1	0	0	0	0	0	0	0	1	6001	933	33	3		3	FOLH1	11	49195014	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	866924	49195014	85811502	1523	7075											
OR4C46	119749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	51515827	51515827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtgatctgaaccctttGctcaacctcgcctgcactga	8	13	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:51515827G>T	ENST00000328188.1	+	1	546	c.546G>T	c.(544-546)ttG>ttT	p.L182F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGAACCCTTTGCTCAACCTCG	0.458																																					p.L182F		.											.	OR4C46-69	0			c.G546T						.						115	105	108					11																	51515827		2201	4296	6497	SO:0001583	missense	119749	exon1			CCCTTTGCTCAAC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.546G>T	11.37:g.51515827G>T	ENSP00000329056:p.Leu182Phe	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	103	54	NM_001004703	0	0	0	0	0		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.971	0.549121	0.13312	.	.	ENSG00000185926	ENST00000328188	T	0.00231	8.49	2.47	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36932	N	0.002336	T	0.00356	0.0011	M	0.86420	2.815	0.09310	N	1	P	0.46395	0.877	P	0.51079	0.658	T	0.39014	-0.9634	10	0.72032	D	0.01	.	4.8217	0.13394	0.0:0.2429:0.5092:0.2479	.	182	A6NHA9	O4C46_HUMAN	F	182	ENSP00000329056:L182F	ENSP00000329056:L182F	L	+	3	2	OR4C46	51372403	0.012000	0.17670	0.027000	0.17364	0.023000	0.10783	0.062000	0.14389	0.364000	0.24374	0.121000	0.15741	TTG	.		0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		T	51515827	G	T	51515827	3	4	31	1	0	0	0	0	1	0	0	0	11090	1310	46	3	548	3	OR4C46	11	51515827	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2320813	51515827	83490689	1524	7076											
OR4C46	119749	ucsc.edu;bcgsc.ca	37	chr11	51515989	51515989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcacaaagccctctcCacctgtgtctcccacatcac	6	18	3	0	rs141793341	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:51515989C>T	ENST00000328188.1	+	1	708	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AAGCCCTCTCCACCTGTGTCT	0.473													.|||	55	0.0109824	0.0386	0.0058	5008	,	,		20016	0		0	False		,,,				2504	0				p.S236S		.											.	OR4C46-69	0			c.C708T						.	C		112,4290		3,106,2092	129	109	115		708	-1.4	0.7	11	dbSNP_134	115	2,8590		0,2,4294	no	coding-synonymous	OR4C46	NM_001004703.1		3,108,6386	TT,TC,CC		0.0233,2.5443,0.8773		236/310	51515989	114,12880	2201	4296	6497	SO:0001819	synonymous_variant	119749	exon1			CCTCTCCACCTGT		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.708C>T	11.37:g.51515989C>T		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	114	33	NM_001004703	0	0	0	0	0		Silent	SNP	ENST00000328188.1	37	CCDS31498.1																																																																																			C|0.991;T|0.009		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		T	51515989	C	T	51515989	2	4	31	1	0	0	0	0	0	0	0	1	11090	581	21	3		3	OR4C46	11	51515989	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	162	51515989	83490527	1525	7077											
OR4C15	81309	bcgsc.ca	37	chr11	55322211	55322211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactccctctatgtgacaaaAaccatctcttttgaaggctg	7	11	2	2	rs9804659	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55322211A>G	ENST00000314644.2	+	1	429	c.429A>G	c.(427-429)aaA>aaG	p.K143K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGTGACAAAAACCATCTCTT	0.478										HNSCC(20;0.049)			a|||	1265	0.252596	0.1014	0.3242	5008	,	,		19759	0.3919		0.2833	False		,,,				2504	0.2311				p.K143K		.											.	OR4C15-70	0			c.A429G						.	A		561,3841	252.1+/-258.6	27,507,1667	159	140	146		429	2.8	1	11	dbSNP_119	146	2288,6304	385.5+/-341.5	329,1630,2337	no	coding-synonymous	OR4C15	NM_001001920.1		356,2137,4004	GG,GA,AA		26.6294,12.7442,21.9255		143/371	55322211	2849,10145	2201	4296	6497	SO:0001819	synonymous_variant	81309	exon1			GACAAAAACCATC	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.429A>G	11.37:g.55322211A>G		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	44	4	NM_001001920	0	0	0	0	0	Q6IFE2	Silent	SNP	ENST00000314644.2	37	CCDS31501.1																																																																																			A|0.760;G|0.240		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		G	55322211	A	G	55322211	2	3	31	1	0	0	0	0	0	0	0	1	11087	11	1	4		4	OR4C15	11	55322211	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3806222	55322211	79684305	1526	7078											
OR4C11	219429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55371701	55371701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcttcctagtgtccggCtggacttgatggtcacaata	13	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55371701C>T	ENST00000302231.4	-	1	173	c.149G>A	c.(148-150)aGc>aAc	p.S50N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	50						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(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TAGTGTCCGGCTGGACTTGAT	0.408																																					p.S50N		.											.	OR4C11-69	0			c.G149A						.						77	73	75					11																	55371701		2179	4006	6185	SO:0001583	missense	219429	exon1			GTCCGGCTGGACT	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.149G>A	11.37:g.55371701C>T	ENSP00000306651:p.Ser50Asn	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	34	23	NM_001004700	0	0	0	0	0	B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148657	0.21288	.	.	ENSG00000172188	ENST00000302231	T	0.01068	5.38	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000019	T	0.02012	0.0063	L	0.55103	1.725	0.26428	N	0.975987	B	0.14438	0.01	B	0.17098	0.017	T	0.30119	-0.9989	10	0.72032	D	0.01	.	14.7292	0.69368	0.0:1.0:0.0:0.0	.	50	Q6IEV9	OR4CB_HUMAN	N	50	ENSP00000306651:S50N	ENSP00000306651:S50N	S	-	2	0	OR4C11	55128277	0.000000	0.05858	0.077000	0.20336	0.004000	0.04260	-0.907000	0.04067	2.425000	0.82216	0.478000	0.44815	AGC	.		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		T	55371701	C	T	55371701	3	4	31	1	0	0	0	0	1	0	0	0	11084	797	28	3	785	3	OR4C11	11	55371701	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49490	55371701	79634815	1527	7079											
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55432829	55432829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtatttttttcttaccTtcttgtcccttttggatgtc	5	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55432829T>A	ENST00000314259.3	+	1	216	c.187T>A	c.(187-189)Ttc>Atc	p.F63I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTTCTTACCTTCTTGTCCCT	0.433																																					p.F63I		.											.	OR4C6-70	0			c.T187A						.						296	258	271					11																	55432829		2200	4296	6496	SO:0001583	missense	219432	exon1			CTTACCTTCTTGT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.187T>A	11.37:g.55432829T>A	ENSP00000324769:p.Phe63Ile	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	113	70	NM_001004704	0	0	0	0	0	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.787123	0.31593	.	.	ENSG00000181903	ENST00000314259	T	0.02974	4.09	3.83	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.606749	0.13668	N	0.371094	T	0.01661	0.0053	N	0.11892	0.195	0.09310	N	1	B	0.30326	0.276	B	0.32211	0.142	T	0.46652	-0.9176	10	0.66056	D	0.02	.	0.3463	0.00342	0.1883:0.2061:0.194:0.4116	.	63	Q8NH72	OR4C6_HUMAN	I	63	ENSP00000324769:F63I	ENSP00000324769:F63I	F	+	1	0	OR4C6	55189405	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.585000	0.05794	1.387000	0.46486	0.444000	0.29173	TTC	.		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		A	55432829	T	A	55432829	3	1	31	1	0	0	0	0	1	0	0	0	11091	1609	56	5	189	5	OR4C6	11	55432829	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	61128	55432829	79573687	1528	7080											
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55433022	55433023	+	Missense_Mutation	DNP	CC	CC	AA													ctacgtggccatctgtaagcCcctgcactacacgatcatca					rs139660252		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55433022_55433023CC>AA	ENST00000314259.3	+	1	409_410	c.380_381CC>AA	c.(379-381)cCC>cAA	p.P127Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTGTAAGCCCCTGCACTACA	0.545																																					p.P127Q		.											.	OR4C6-70	1	Substitution - Missense(1)	skin(1)	c.C381A						.																																			SO:0001583	missense	219432	exon1			TAAGCCCCTGCAC	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55433022_55433023delinsAA	ENSP00000324769:p.Pro127Gln	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	98	13	NM_001004704	0	0	0	0	0	B2RP11|Q6IFD2	Missense_Mutation	DNP	ENST00000314259.3	37	CCDS31506.1																																																																																			.		0.545	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		AA	55433023	CC	AA	55433022	3	1	31	1	0	0	0	0	1	0	0	0	11091	623	22	3	382	3	OR4C6	11	55433022	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	193	55433022	79573494	1529	7081											
OR5D16	390144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55606310	55606310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctggaactgcaaattcCcctcttctttgtatttctgg	6	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55606310C>T	ENST00000378396.1	+	1	83	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	28						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)				CTGCAAATTCCCCTCTTCTTT	0.433																																					p.P28L		.											.	OR5D16-73	0			c.C83T						.						117	108	111					11																	55606310		2201	4296	6497	SO:0001583	missense	390144	exon1			AAATTCCCCTCTT	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.83C>T	11.37:g.55606310C>T	ENSP00000367649:p.Pro28Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	73	41	NM_001005496	0	0	0	0	0	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	6.203	0.405543	0.11754	.	.	ENSG00000205029	ENST00000378396	T	0.00036	8.86	4.04	1.01	0.19927	.	.	.	.	.	T	0.00073	0.0002	N	0.10760	0.04	0.09310	N	1	B	0.21452	0.056	B	0.31245	0.126	T	0.00783	-1.1568	9	0.10111	T	0.7	-31.7045	8.4556	0.32897	0.0:0.6375:0.0:0.3625	.	28	Q8NGK9	OR5DG_HUMAN	L	28	ENSP00000367649:P28L	ENSP00000367649:P28L	P	+	2	0	OR5D16	55362886	0.000000	0.05858	0.006000	0.13384	0.739000	0.42172	-1.543000	0.02194	0.332000	0.23536	0.530000	0.56133	CCC	.		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		T	55606310	C	T	55606310	3	4	31	1	0	0	0	0	1	0	0	0	11195	623	22	3	85	3	OR5D16	11	55606310	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	173288	55606310	79400206	1530	7082											
OR5W2	390148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	55681212	55681212	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatcagggggttcaacatggGaaccacaagggtgtaaaaca	12	7	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55681212G>C	ENST00000344514.1	-	1	846	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCAACATGGGAACCACAAGG	0.358																																					p.P283A	Melanoma(48;171 1190 15239 43886 49348)	.											.	OR5W2-70	0			c.C847G						.						48	54	52					11																	55681212		2201	4296	6497	SO:0001583	missense	390148	exon1			ACATGGGAACCAC	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.847C>G	11.37:g.55681212G>C	ENSP00000342448:p.Pro283Ala	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	53	16	NM_001001960	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770675	0.31320	.	.	ENSG00000187612	ENST00000344514	T	0.00340	8.04	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001169	T	0.01254	0.0041	M	0.94101	3.495	0.34653	D	0.72183	D	0.76494	0.999	D	0.87578	0.998	T	0.38394	-0.9663	10	0.87932	D	0	.	15.4853	0.75560	0.0:0.0:1.0:0.0	.	283	Q8NH69	OR5W2_HUMAN	A	283	ENSP00000342448:P283A	ENSP00000342448:P283A	P	-	1	0	OR5W2	55437788	0.998000	0.40836	0.964000	0.40570	0.010000	0.07245	3.368000	0.52357	2.228000	0.72767	0.549000	0.68633	CCC	.		0.358	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		C	55681212	G	C	55681212	3	2	31	1	0	0	0	0	1	0	0	0	11224	1174	41	3	87	3	OR5W2	11	55681212	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	74902	55681212	79325304	1531	7083											
OR8H1	219469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	56058500	56058500	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaatctgacagtcccgtaagGatgaagtcaggcacatttgt	11	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:56058500G>T	ENST00000313022.2	-	1	66	c.39C>A	c.(37-39)atC>atA	p.I13I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCCCGTAAGGATGAAGTCAG	0.383																																					p.I13I		.											.	OR8H1-71	0			c.C39A						.						106	101	103					11																	56058500		2201	4296	6497	SO:0001819	synonymous_variant	219469	exon1			CGTAAGGATGAAG	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.39C>A	11.37:g.56058500G>T		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	29	16	NM_001005199	0	0	0	0	0	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																			.		0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		T	56058500	G	T	56058500	2	4	31	1	0	0	0	0	0	0	0	1	11276	1164	41	3		3	OR8H1	11	56058500	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	377288	56058500	78948016	1532	7084											
OR5R1	219479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	56185247	56185247	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggtgtggaagagggcaacCaggaagctgtatatatatgg	15	5	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:56185247C>A	ENST00000312253.1	-	1	461	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGAGGGCAACCAGGAAGCTGT	0.443																																					p.L154L		.											.	OR5R1-70	0			c.G462T						.						111	113	113					11																	56185247		2201	4296	6497	SO:0001819	synonymous_variant	219479	exon1			GGCAACCAGGAAG	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.462G>T	11.37:g.56185247C>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	94	56	NM_001004744	0	0	0	0	0		Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																			.		0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		A	56185247	C	A	56185247	2	1	31	1	0	0	0	0	0	0	0	1	11219	581	21	3		3	OR5R1	11	56185247	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	126747	56185247	78821269	1533	7085											
OR1S2	219958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57970677	57970677	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatgtagatgtccagggcatCaaagggaagaaatttttcta	10	5	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:57970677C>G	ENST00000302592.6	-	1	976	c.977G>C	c.(976-978)tGa>tCa	p.*326S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*326S(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TCCAGGGCATCAAAGGGAAGA	0.408																																					p.X326S		.											.	OR1S2-69	1	Nonstop extension(1)	lung(1)	c.G977C						.						127	129	129					11																	57970677		2201	4296	6497	SO:0001578	stop_lost	219958	exon1			GGGCATCAAAGGG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.977G>C	11.37:g.57970677C>G		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	104	66	NM_001004459	0	0	0	0	0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777818	0.31502	.	.	ENSG00000197887	ENST00000302592	.	.	.	4.65	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.899	0.29723	0.0:0.7586:0.0:0.2414	.	.	.	.	S	326	.	.	X	-	2	2	OR1S2	57727253	0.000000	0.05858	0.153000	0.22517	0.182000	0.23217	-0.101000	0.10973	0.576000	0.29452	-0.140000	0.14226	TGA	.		0.408	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		G	57970677	C	G	57970677	4	3	31	1	0	0	0	0	0	0	0	0	11012	840	29	3	3	3	OR1S2	11	57970677	Nonstop_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1785430	57970677	77035839	1534	7086											
OR5B3	441608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	58170454	58170454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaggtaggagcctatGgccagacgagcacacacagt	12	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58170454G>A	ENST00000309403.2	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGCCTATGGCCAGACGAG	0.483																																					p.A143A		.											.	OR5B3-68	0			c.C429T						.						117	106	110					11																	58170454		2201	4295	6496	SO:0001819	synonymous_variant	441608	exon1			GCCTATGGCCAGA	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.429C>T	11.37:g.58170454G>A		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	97	57	NM_001005469	0	0	0	0	0	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																			.		0.483	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		A	58170454	G	A	58170454	2	1	31	1	0	0	0	0	0	0	0	1	11191	1335	47	3		3	OR5B3	11	58170454	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	199777	58170454	76836062	1535	7087											
OR5B2	390190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	58190520	58190520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttgggagtgacagctgagGagtatccaaagtccaccaga	12	10	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58190520G>T	ENST00000302581.2	-	1	266	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACAGCTGAGGAGTATCCAAA	0.498																																					p.S72Y		.											.	OR5B2-71	0			c.C215A						.						117	106	110					11																	58190520		2201	4295	6496	SO:0001583	missense	390190	exon1			GCTGAGGAGTATC	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.215C>A	11.37:g.58190520G>T	ENSP00000303076:p.Ser72Tyr	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	129	80	NM_001005566	0	0	0	0	0	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660172	0.29515	.	.	ENSG00000172365	ENST00000302581	T	0.00840	5.63	3.8	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003658	T	0.07908	0.0198	H	0.98178	4.165	0.09310	N	1	D	0.65815	0.995	D	0.63381	0.914	T	0.12708	-1.0537	10	0.87932	D	0	-16.9951	8.1436	0.31097	0.2058:0.0:0.7942:0.0	.	72	Q96R09	OR5B2_HUMAN	Y	72	ENSP00000303076:S72Y	ENSP00000303076:S72Y	S	-	2	0	OR5B2	57947096	0.288000	0.24324	0.595000	0.28798	0.160000	0.22226	3.440000	0.52886	0.944000	0.37579	0.645000	0.84053	TCC	.		0.498	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		T	58190520	G	T	58190520	3	4	31	1	0	0	0	0	1	0	0	0	11189	1174	41	3	718	3	OR5B2	11	58190520	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	20066	58190520	76815996	1536	7088											
OR5B12	390191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	58207133	58207133	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acattggatctacagaaggaGagcctgaaagtgttcccagt	11	8	1	3	rs146093633		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58207133G>A	ENST00000302572.2	-	1	513	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACAGAAGGAGAGCCTGAAAG	0.443																																					p.L164L		.											.	OR5B12-68	0			c.C492T						.	G		1,4401	2.1+/-5.4	0,1,2200	123	114	117		492	-2.8	0.5	11	dbSNP_134	117	0,8590		0,0,4295	no	coding-synonymous	OR5B12	NM_001004733.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		164/315	58207133	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	390191	exon1			GAAGGAGAGCCTG	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.492C>T	11.37:g.58207133G>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	139	83	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	CCDS31551.1																																																																																			G|1.000;A|0.000		0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		A	58207133	G	A	58207133	2	1	31	1	0	0	0	0	0	0	0	1	11187	929	33	3		3	OR5B12	11	58207133	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	16613	58207133	76799383	1537	7089											
OR5AN1	390195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	59132631	59132631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcacttcagctaaaGgcaggtccaaggcattcaac	9	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:59132631G>T	ENST00000313940.2	+	1	747	c.700G>T	c.(700-702)Ggc>Tgc	p.G234C		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	234						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						TTCAGCTAAAGGCAGGTCCAA	0.423																																					p.G234C		.											.	OR5AN1-69	0			c.G700T						.						217	200	206					11																	59132631		2201	4295	6496	SO:0001583	missense	390195	exon1			GCTAAAGGCAGGT	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.700G>T	11.37:g.59132631G>T	ENSP00000320302:p.Gly234Cys	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	112	69	NM_001004729	0	0	0	0	0	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121309	0.56613	.	.	ENSG00000176495	ENST00000313940	T	0.00304	8.19	4.51	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.239840	0.29737	N	0.011331	T	0.01222	0.0040	H	0.98068	4.14	0.32829	D	0.503749	D	0.89917	1.0	D	0.85130	0.997	T	0.02539	-1.1144	10	0.87932	D	0	-7.9502	12.8553	0.57882	0.0:0.0:0.8355:0.1645	.	234	Q8NGI8	O5AN1_HUMAN	C	234	ENSP00000320302:G234C	ENSP00000320302:G234C	G	+	1	0	OR5AN1	58889207	0.174000	0.23070	0.839000	0.33178	0.990000	0.78478	1.048000	0.30379	1.183000	0.42943	0.655000	0.94253	GGC	.		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		T	59132631	G	T	59132631	3	4	31	1	0	0	0	0	1	0	0	0	11182	1000	35	3	702	3	OR5AN1	11	59132631	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	925498	59132631	75873885	1538	7090											
CCDC86	79080	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	60617436	60617436	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaacagcgccgggctgaGaacctgaaacgccgcctgga	13	12	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:60617436G>T	ENST00000227520.5	+	3	966	c.912G>T	c.(910-912)gaG>gaT	p.E304D	CCDC86_ENST00000545580.1_Missense_Mutation_p.E48D|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	304					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCCGGGCTGAGAACCTGAAAC	0.612																																					p.E304D		.											.	CCDC86-90	0			c.G912T						.						86	82	84					11																	60617436		2203	4299	6502	SO:0001583	missense	79080	exon3			GGCTGAGAACCTG	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.912G>T	11.37:g.60617436G>T	ENSP00000227520:p.Glu304Asp	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	95	45	NM_024098	0	0	0	0	0	B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386869	0.61956	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T;T	0.78816	0.12;-1.21	4.8	2.89	0.33648	.	0.055044	0.64402	D	0.000001	T	0.81964	0.4934	M	0.83118	2.625	0.43377	D	0.995479	P	0.46142	0.873	P	0.52793	0.709	T	0.79876	-0.1618	10	0.62326	D	0.03	-30.3331	4.866	0.13609	0.1804:0.0:0.6528:0.1668	.	304	Q9H6F5	CCD86_HUMAN	D	304;48	ENSP00000227520:E304D;ENSP00000440906:E48D	ENSP00000227520:E304D	E	+	3	2	CCDC86	60374012	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	1.746000	0.38288	0.607000	0.29982	0.561000	0.74099	GAG	.		0.612	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		T	60617436	G	T	60617436	3	4	31	1	0	0	0	0	1	0	0	0	2868	933	33	3	922	3	CCDC86	11	60617436	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1484805	60617436	74389080	1539	7091											
C11orf9	745	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	61533677	61533677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaaggctgagcccaagGctccctatgccccagggtga	11	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:61533677G>T	ENST00000278836.5	+	3	478	c.382G>T	c.(382-384)Gct>Tct	p.A128S	MYRF_ENST00000265460.5_Missense_Mutation_p.A119S|TMEM258_ENST00000535042.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	128	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGCCCAAGGCTCCCTATGC	0.677																																					p.A128S		.											.	.	0			c.G382T						.						13	17	16					11																	61533677		2096	4126	6222	SO:0001583	missense	745	exon3			CCCAAGGCTCCCT		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.382G>T	11.37:g.61533677G>T	ENSP00000278836:p.Ala128Ser	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	61	38	NM_001127392	0	0	0	0	0	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797928	0.70567	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.36878	1.24;1.23	4.44	4.44	0.53790	.	0.120658	0.56097	D	0.000025	T	0.27349	0.0671	N	0.19112	0.55	0.80722	D	1	P;P	0.52316	0.952;0.851	P;B	0.47299	0.543;0.217	T	0.01390	-1.1367	10	0.22706	T	0.39	-14.2674	11.5039	0.50454	0.0846:0.0:0.9154:0.0	.	119;128	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	S	128;119	ENSP00000278836:A128S;ENSP00000265460:A119S	ENSP00000265460:A119S	A	+	1	0	C11orf9	61290253	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	4.522000	0.60539	2.420000	0.82092	0.561000	0.74099	GCT	.		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61533677	G	T	61533677	3	4	31	1	0	0	0	0	1	0	0	0	1676	1203	42	3	415	3	C11orf9	11	61533677	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	916241	61533677	73472839	1540	7092											
SLC22A24	283238	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	62886491	62886491	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagcatctgcccaacactGtaggaacataatagcaccat	8	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:62886491G>T	ENST00000417740.1	-	4	1164	c.723C>A	c.(721-723)taC>taA	p.Y241*	SLC22A24_ENST00000326192.5_Nonsense_Mutation_p.Y241*	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	241					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GCCCAACACTGTAGGAACATA	0.428																																					p.Y241X		.											.	.	0			c.C723A						.						153	133	139					11																	62886491		692	1591	2283	SO:0001587	stop_gained	283238	exon4			AACACTGTAGGAA		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.723C>A	11.37:g.62886491G>T	ENSP00000396586:p.Tyr241*	Somatic	181	2		WXS	Illumina GAIIx	Phase_I	147	95	NM_001136506	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000417740.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076350	0.94000	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	.	.	.	3.86	2.94	0.34122	.	0.559403	0.18994	U	0.125539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	6.0769	0.19921	0.2332:0.0:0.7668:0.0	.	.	.	.	X	241	.	ENSP00000321549:Y241X	Y	-	3	2	SLC22A24	62643067	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.490000	0.06482	0.851000	0.35264	0.501000	0.49751	TAC	.		0.428	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		T	62886491	G	T	62886491	4	4	31	1	0	0	0	0	0	1	0	0	14498	1372	48	3	958	3	SLC22A24	11	62886491	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1352814	62886491	72120025	1541	7093											
FLRT1	28992	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63885551	63885551	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgactatatggagtcaggGaccaagaaggataactccat	11	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:63885551G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.G604G|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAGTCAGGGACCAAGAAGG	0.597																																					p.G604G		.											.	FLRT1-90	0			c.G1812A						.						52	51	51					11																	63885551		2201	4297	6498	SO:0001627	intron_variant	23769	exon2			GTCAGGGACCAAG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33159C>T	11.37:g.63885551G>A		Somatic	178	1		WXS	Illumina GAIIx	Phase_I	171	79	NM_013280	0	0	0	0	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			.		0.597	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		A	63885551	G	A	63885551	1	1	31	0	1	0	0	0	0	0	0	0	5960	1161	41	3		3	FLRT1	11	63885551	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	999060	63885551	71120965	1542	7094											
NRXN2	9379	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	64375221	64375221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggagcgggtttgcggGgtgacaggagggtggtgcgg	25	6	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64375221G>A	ENST00000377551.1	-	22	4797	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	NRXN2_ENST00000301894.2_Missense_Mutation_p.P483L|NRXN2_ENST00000377559.3_Missense_Mutation_p.P1459L|NRXN2_ENST00000265459.6_Missense_Mutation_p.P1529L|NRXN2_ENST00000409571.1_Missense_Mutation_p.P1522L			Q9P2S2	NRX2A_HUMAN	neurexin 2	1529					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTTTGCGGGGTGACAGGAG	0.711																																					p.P1529L		.											.	NRXN2-232	0			c.C4586T						.						40	38	39					11																	64375221		2181	4282	6463	SO:0001583	missense	9379	exon23			TTGCGGGGTGACA		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4586C>T	11.37:g.64375221G>A	ENSP00000366774:p.Pro1529Leu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	124	58	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886304	0.51908	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.60672	0.68;0.17;0.2;0.17;0.27	3.37	3.37	0.38596	.	0.000000	0.43110	U	0.000620	T	0.49457	0.1558	N	0.19112	0.55	0.58432	D	0.999998	B;B;D;B	0.53619	0.206;0.006;0.961;0.155	B;B;P;B	0.49637	0.085;0.015;0.617;0.108	T	0.55866	-0.8073	10	0.59425	D	0.04	.	12.6086	0.56538	0.0:0.0:1.0:0.0	.	1459;1529;1275;483	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	L	483;1529;1459;1529;1459;1522	ENSP00000301894:P483L;ENSP00000366774:P1529L;ENSP00000366782:P1459L;ENSP00000265459:P1529L;ENSP00000386416:P1522L	ENSP00000265459:P1529L	P	-	2	0	NRXN2	64131797	1.000000	0.71417	0.973000	0.42090	0.806000	0.45545	8.792000	0.91856	1.899000	0.54978	0.313000	0.20887	CCC	.		0.711	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64375221	G	A	64375221	3	1	31	1	0	0	0	0	1	0	0	0	10705	1232	43	3	556	3	NRXN2	11	64375221	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	489670	64375221	70631295	1543	7095											
NRXN2	9379	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	64402917	64402917	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttcccaaagatgtatgtGgtcccggctgcagagagaag	12	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64402917G>T	ENST00000377551.1	-	17	3622	c.3411C>A	c.(3409-3411)acC>acA	p.T1137T	NRXN2_ENST00000301894.2_Silent_p.T91T|NRXN2_ENST00000377559.3_Silent_p.T1097T|NRXN2_ENST00000265459.6_Silent_p.T1137T|NRXN2_ENST00000409571.1_Silent_p.T1130T			Q9P2S2	NRX2A_HUMAN	neurexin 2	1137	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATGTATGTGGTCCCGGCTG	0.597																																					p.T1137T		.											.	NRXN2-232	0			c.C3411A						.						37	35	35					11																	64402917		2201	4297	6498	SO:0001819	synonymous_variant	9379	exon18			GTATGTGGTCCCG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3411C>A	11.37:g.64402917G>T		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	98	33	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			.		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64402917	G	T	64402917	2	4	31	1	0	0	0	0	0	0	0	1	10705	1335	47	3		3	NRXN2	11	64402917	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	27696	64402917	70603599	1544	7096											
ZFPL1	7542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64855517	64855517	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtctcgcctaggccgGgccgcagctgacagcgatcc	12	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64855517G>T	ENST00000294258.3	+	8	1016	c.864G>T	c.(862-864)cgG>cgT	p.R288R	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	288					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCTAGGCCGGGCCGCAGCTG	0.682																																					p.R288R		.											.	ZFPL1-91	0			c.G864T						.						86	85	85					11																	64855517		2201	4297	6498	SO:0001819	synonymous_variant	7542	exon8			AGGCCGGGCCGCA		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.864G>T	11.37:g.64855517G>T		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	100	41	NM_006782	0	0	0	0	0	A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	CCDS8092.1																																																																																			.		0.682	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		T	64855517	G	T	64855517	2	4	31	1	0	0	0	0	0	0	0	1	17704	1219	43	3		3	ZFPL1	11	64855517	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	452600	64855517	70150999	1545	7097											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.P52P	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	31	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24573	64880090	70126426	1546	7098											
FAM89B	23625	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	65340987	65340987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctacccaccggatgcgGgcctgtctgacgacgaggag	14	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65340987G>T	ENST00000530349.1	+	2	587	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM89B_ENST00000316409.2_Missense_Mutation_p.G136C|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_Missense_Mutation_p.G152V			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	149					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						ACCGGATGCGGGCCTGTCTGA	0.627																																					p.G152V		.											.	FAM89B-90	0			c.G455T						.						79	67	71					11																	65340987		2201	4297	6498	SO:0001583	missense	23625	exon2			GATGCGGGCCTGT	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.445G>T	11.37:g.65340987G>T	ENSP00000431459:p.Gly149Cys	Somatic	159	1		WXS	Illumina GAIIx	Phase_I	225	25	NM_001098784	0	0	0	0	0	E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	CCDS53662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.792988|3.792988	0.70452|0.70452	.|.	.|.	ENSG00000173465;ENSG00000176973;ENSG00000176973;ENSG00000176973|ENSG00000176973	ENST00000526433;ENST00000316409;ENST00000530349;ENST00000377088|ENST00000449319	.|.	.|.	.|.	4.78|4.78	3.87|3.87	0.44632|0.44632	.|.	0.212222|0.212222	0.23949|0.23949	N|N	0.042970|0.042970	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.54323|0.54323	1.7|1.7	0.51012|0.51012	D|D	0.9999|0.9999	D;D|B	0.65815|0.09022	0.995;0.995|0.002	P;P|B	0.60682|0.04013	0.878;0.878|0.001	T|T	0.56269|0.56269	-0.8007|-0.8007	9|9	0.87932|0.87932	D|D	0|0	-15.9902|-15.9902	8.5586|8.5586	0.33496|0.33496	0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0	.|.	136;149|152	Q8N5H3;E9PL72|E9PB01	FA89B_HUMAN;.|.	C|V	105;136;149;122|152	.|.	ENSP00000314829:G136C|ENSP00000402439:G152V	G|G	+|+	1|2	0|0	SSSCA1;FAM89B|FAM89B	65097563|65097563	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	5.130000|5.130000	0.64745|0.64745	1.247000|1.247000	0.43917|0.43917	0.561000|0.561000	0.74099|0.74099	GGC|GGG	.		0.627	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		T	65340987	G	T	65340987	3	4	31	1	0	0	0	0	1	0	0	0	5670	1232	43	3	461	3	FAM89B	11	65340987	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	460897	65340987	69665529	1547	7099											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	31	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	469222	65810209	69196307	1548	7100											
GAL3ST3	89792	hgsc.bcm.edu;broad.mit.edu	37	chr11	65810462	65810463	+	Frame_Shift_Del	DEL	GC	GC	-													cggccaggcgcgagctggcgGcgcgcgcgttgagcttggcg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65810462_65810463delGC	ENST00000312006.4	-	3	1092_1093	c.811_812delGC	c.(811-813)gccfs	p.A272fs	GAL3ST3_ENST00000527878.1_Frame_Shift_Del_p.A272fs	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	272					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGAGCTGGCGGCGCGCGCGTTG	0.718																																					p.271_271del		.											.	GAL3ST3-91	0			c.811_812del						.																																			SO:0001589	frameshift_variant	89792	exon3			CTGGCGGCGCGCG	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.811_812delGC	11.37:g.65810468_65810469delGC	ENSP00000308591:p.Ala272fs	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	54	24	NM_033036	0	0	0	0	0	Q14D05	Frame_Shift_Del	DEL	ENST00000312006.4	37	CCDS8128.1																																																																																			.		0.718	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		-	65810463	GC	-	65810462	7	5	31	1	0	1	0	1	0	0	0	0	6224	1203	42	0	487	0	GAL3ST3	11	65810462	Frame_Shift_Del	DEL	GC	TCGA-OR-A5KB-01A-11D-A30A-10	253	65810462	69196054	1549	7101											
TMEM151A	256472	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	66062127	66062127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcccacacggtgctggCgctgatccgccggctgcagc	14	17	0	1	rs528968497		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66062127C>A	ENST00000327259.4	+	2	554	c.410C>A	c.(409-411)gCg>gAg	p.A137E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	137						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						ACGGTGCTGGCGCTGATCCGC	0.687													C|||	1	0.000199681	0	0	5008	,	,		14113	0		0.001	False		,,,				2504	0				p.A137E		.											.	TMEM151A-90	0			c.C410A						.						20	17	18					11																	66062127		2185	4266	6451	SO:0001583	missense	256472	exon2			TGCTGGCGCTGAT	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.410C>A	11.37:g.66062127C>A	ENSP00000326244:p.Ala137Glu	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	93	21	NM_153266	0	0	0	0	0	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	4.182	0.032382	0.08101	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	4.69	0.59074	.	0.087086	0.48286	D	0.000191	T	0.11495	0.0280	N	0.00197	-1.87	0.43766	D	0.996288	B	0.16396	0.017	B	0.12156	0.007	T	0.38993	-0.9635	9	0.02654	T	1	.	10.244	0.43330	0.311:0.689:0.0:0.0	.	137	Q8N4L1	T151A_HUMAN	E	137	.	ENSP00000326244:A137E	A	+	2	0	TMEM151A	65818703	1.000000	0.71417	0.476000	0.27291	0.830000	0.47004	5.362000	0.66098	2.438000	0.82558	0.561000	0.74099	GCG	.		0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		A	66062127	C	A	66062127	3	1	31	1	0	0	0	0	1	0	0	0	16117	768	27	2	416	2	TMEM151A	11	66062127	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	251665	66062127	68944389	1550	7102											
CCS	9973	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	66366693	66366693	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcacggggcggcaggcGgtactcaagggcatgggcag	20	9	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66366693G>T	ENST00000533244.1	+	3	660	c.219G>T	c.(217-219)gcG>gcT	p.A73A	CCS_ENST00000310190.4_Silent_p.A54A	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	73	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GGCGGCAGGCGGTACTCAAGG	0.612																																					p.A73A		.											.	CCS-90	0			c.G219T						.						64	54	57					11																	66366693		2200	4295	6495	SO:0001819	synonymous_variant	9973	exon3			GCAGGCGGTACTC	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.219G>T	11.37:g.66366693G>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	90	20	NM_005125	0	0	0	0	0	Q2M366|Q8NEV0	Silent	SNP	ENST00000533244.1	37	CCDS8146.1																																																																																			.		0.612	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		T	66366693	G	T	66366693	2	4	31	1	0	0	0	0	0	0	0	1	2959	1103	39	2		2	CCS	11	66366693	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	304566	66366693	68639823	1551	7103											
SPTBN2	6712	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66466921	66466921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcccgaatcttgtcggcgtgGatgttgccttcagataccag	11	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66466921G>C	ENST00000533211.1	-	18	4063	c.3732C>G	c.(3730-3732)atC>atG	p.I1244M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.I1244M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.I1244M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1244					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						TGTCGGCGTGGATGTTGCCTT	0.552																																					p.I1244M		.											.	SPTBN2-155	0			c.C3732G						.						95	90	92					11																	66466921		2200	4295	6495	SO:0001583	missense	6712	exon17			GGCGTGGATGTTG	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.3732C>G	11.37:g.66466921G>C	ENSP00000432568:p.Ile1244Met	Somatic	147	2		WXS	Illumina GAIIx	Phase_I	197	79	NM_006946	0	0	0	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.823025	0.32237	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49720	0.77;0.77;0.77	5.16	4.23	0.50019	.	0.352176	0.29916	N	0.010866	T	0.63534	0.2519	M	0.77616	2.38	0.30991	N	0.721428	D	0.63046	0.992	P	0.60345	0.873	T	0.65730	-0.6097	10	0.40728	T	0.16	.	13.0942	0.59182	0.0808:0.0:0.9192:0.0	.	1244	O15020	SPTN2_HUMAN	M	1244	ENSP00000432568:I1244M;ENSP00000311489:I1244M;ENSP00000433593:I1244M	ENSP00000311489:I1244M	I	-	3	3	SPTBN2	66223497	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	0.674000	0.25218	2.670000	0.90874	0.591000	0.81541	ATC	.		0.552	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		C	66466921	G	C	66466921	3	2	31	1	0	0	0	0	1	0	0	0	15167	1164	41	3	3524	3	SPTBN2	11	66466921	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	100228	66466921	68539595	1552	7104											
RHOD	29984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66838961	66838961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcgagtgctcggctcGgctccatgacaacgtccacg	10	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66838961G>A	ENST00000308831.2	+	5	606	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	RHOD_ENST00000532559.1_Missense_Mutation_p.R108Q	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	174					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGCTCGGCTCGGCTCCATGAC	0.692																																					p.R174Q		.											.	RHOD-659	0			c.G521A						.						35	33	34					11																	66838961		2200	4293	6493	SO:0001583	missense	29984	exon5			CGGCTCGGCTCCA	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.521G>A	11.37:g.66838961G>A	ENSP00000308576:p.Arg174Gln	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	192	41	NM_014578	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308831.2	37	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614505	0.66672	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.70282	-0.47;-0.47	4.27	-1.58	0.08479	.	0.647722	0.12831	N	0.435588	T	0.67739	0.2925	L	0.48642	1.525	0.09310	N	1	D	0.58620	0.983	P	0.49637	0.617	T	0.62618	-0.6816	10	0.36615	T	0.2	-11.1496	12.9416	0.58348	0.0:0.0:0.5591:0.4409	.	174	O00212	RHOD_HUMAN	Q	174;108	ENSP00000308576:R174Q;ENSP00000432003:R108Q	ENSP00000308576:R174Q	R	+	2	0	RHOD	66595537	0.998000	0.40836	0.000000	0.03702	0.648000	0.38561	2.489000	0.45285	-0.563000	0.06078	0.561000	0.74099	CGG	.		0.692	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		A	66838961	G	A	66838961	3	1	31	1	0	0	0	0	1	0	0	0	13382	1116	39	1	539	1	RHOD	11	66838961	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	372040	66838961	68167555	1553	7105											
GPR152	390212	bcgsc.ca;mdanderson.org	37	chr11	67219676	67219676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggtcgtaccaccagaCggcagcctcggggaagacca	13	14	0	2	rs368998457	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:67219676C>T	ENST00000312457.2	-	1	524	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TACCACCAGACGGCAGCCTCG	0.672													C|||	3	0.000599042	0	0.0043	5008	,	,		17297	0		0	False		,,,				2504	0				p.V174I	Pancreas(102;800 1581 2723 7382 33622)	.											.	GPR152-90	0			c.G520A						.	C	ILE/VAL	0,4398		0,0,2199	54	61	59		520	0.9	0.2	11		59	1,8589	1.2+/-3.3	0,1,4294	no	missense	GPR152	NM_206997.1	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/471	67219676	1,12987	2199	4295	6494	SO:0001583	missense	390212	exon1			ACCAGACGGCAGC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.520G>A	11.37:g.67219676C>T	ENSP00000310255:p.Val174Ile	Somatic	36	1		WXS	Illumina GAIIx	Phase_I	131	48	NM_206997	0	0	0	0	0	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242105	0.10077	0.0	1.16E-4	ENSG00000175514	ENST00000312457	T	0.71934	-0.61	4.82	0.897	0.19258	GPCR, rhodopsin-like superfamily (1);	0.224875	0.22329	N	0.061481	T	0.43787	0.1263	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.22941	-1.0202	10	0.30078	T	0.28	.	7.2502	0.26146	0.0:0.5306:0.0:0.4694	.	174	Q8TDT2	GP152_HUMAN	I	174	ENSP00000310255:V174I	ENSP00000310255:V174I	V	-	1	0	GPR152	66976252	0.000000	0.05858	0.233000	0.24025	0.408000	0.30992	-0.771000	0.04699	0.009000	0.14813	0.561000	0.74099	GTC	.		0.672	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			T	67219676	C	T	67219676	3	4	31	1	0	0	0	0	1	0	0	0	6684	536	19	1	896	1	GPR152	11	67219676	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	380715	67219676	67786840	1554	7106											
PITPNM1	9600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	67264702	67264702	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagcccctaggactcacCctccagggcgggcatcacag	11	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:67264702C>A	ENST00000534749.1	-	13	2334	c.2146G>T	c.(2146-2148)Gca>Tca	p.A716S	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Splice_Site_p.A716S|PITPNM1_ENST00000356404.3_Splice_Site_p.A716S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	716	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TAGGACTCACCCTCCAGGGCG	0.637																																					p.A716S	GBM(28;144 709 4607 5525)	.											.	PITPNM1-227	0			c.G2146T						.						21	23	22					11																	67264702		2196	4292	6488	SO:0001630	splice_region_variant	9600	exon14			ACTCACCCTCCAG	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2146+1G>T	11.37:g.67264702C>A		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	240	100	NM_001130848	0	0	0	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505359	0.64410	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.41065	1.02;1.01;1.02	4.41	4.41	0.53225	DDHD (2);	0.278485	0.25096	N	0.033164	T	0.30324	0.0761	N	0.25380	0.74	0.39974	D	0.974828	P;B	0.40230	0.708;0.002	B;B	0.36534	0.227;0.039	T	0.13415	-1.0510	9	.	.	.	-10.4249	16.024	0.80528	0.0:1.0:0.0:0.0	.	716;716	O00562-2;O00562	.;PITM1_HUMAN	S	716	ENSP00000437286:A716S;ENSP00000398787:A716S;ENSP00000348772:A716S	.	A	-	1	0	PITPNM1	67021278	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.446000	0.60014	2.208000	0.71279	0.555000	0.69702	GCA;GCC;GCA	.		0.637	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910	Missense_Mutation	A	67264702	C	A	67264702	5	1	31	1	0	0	0	0	0	0	1	0	11989	637	22	3	1632	3	PITPNM1	11	67264702	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	45026	67264702	67741814	1555	7107											
FGF3	2248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	69625429	69625429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtattatagcccagctcgtGgatccgctccacaaactcgc	8	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:69625429G>T	ENST00000334134.2	-	3	454	c.364C>A	c.(364-366)Cac>Aac	p.H122N		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	122					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCCAGCTCGTGGATCCGCTCC	0.647																																					p.H122N		.											.	FGF3-847	1	Substitution - Missense(1)	prostate(1)	c.C364A						.						41	46	45					11																	69625429		2198	4288	6486	SO:0001583	missense	2248	exon3			GCTCGTGGATCCG		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.364C>A	11.37:g.69625429G>T	ENSP00000334122:p.His122Asn	Somatic	211	1		WXS	Illumina GAIIx	Phase_I	204	104	NM_005247	0	0	0	0	0	Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069131	0.76301	.	.	ENSG00000186895	ENST00000334134	T	0.81163	-1.46	3.92	3.92	0.45320	.	0.052603	0.85682	D	0.000000	D	0.87006	0.6070	L	0.56769	1.78	0.58432	D	0.999993	D	0.69078	0.997	D	0.76071	0.987	D	0.86883	0.2043	9	.	.	.	.	15.9315	0.79663	0.0:0.0:1.0:0.0	.	122	P11487	FGF3_HUMAN	N	122	ENSP00000334122:H122N	.	H	-	1	0	FGF3	69334610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.979000	0.76154	1.714000	0.51371	0.462000	0.41574	CAC	.		0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		T	69625429	G	T	69625429	3	4	31	1	0	0	0	0	1	0	0	0	5875	1348	47	3	359	3	FGF3	11	69625429	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2360727	69625429	65381087	1556	7108											
SHANK2	22941	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	70331792	70331792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaccataaatgcttgccCatctgcatagactgtgcagg	9	11	2	1	rs532381199		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:70331792C>A	ENST00000423696.2	-	15	3505	c.3469G>T	c.(3469-3471)Ggg>Tgg	p.G1157W	SHANK2_ENST00000449833.2_Missense_Mutation_p.G941W|SHANK2_ENST00000409161.1_Missense_Mutation_p.G940W|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1537W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1157					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)	p.G1537W(1)|p.G941W(1)		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)			AATGCTTGCCCATCTGCATAG	0.507																																					p.G948W		.											.	SHANK2-94	2	Substitution - Missense(2)	lung(2)	c.G2842T						.						140	124	129					11																	70331792		2200	4294	6494	SO:0001583	missense	22941	exon10			CTTGCCCATCTGC	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.3469G>T	11.37:g.70331792C>A	ENSP00000394536:p.Gly1157Trp	Somatic	211	1		WXS	Illumina GAIIx	Phase_I	161	76	NM_133266	0	0	0	0	0	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	19.22	3.786429	0.70337	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.42	5.42	0.78866	.	0.093157	0.85682	D	0.000000	T	0.58452	0.2123	M	0.84948	2.725	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	0.64833	-0.6314	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1157;1536;941	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	941;940;815;1537;1157;1175;1160	ENSP00000399423:G941W;ENSP00000386491:G940W;ENSP00000402944:G815W;ENSP00000345193:G1537W;ENSP00000394536:G1157W;ENSP00000294018:G1160W	ENSP00000294018:G1160W	G	-	1	0	SHANK2	70009440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.254000	0.78329	2.549000	0.85964	0.655000	0.94253	GGG	.		0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70331792	C	A	70331792	3	1	31	1	0	0	0	0	1	0	0	0	14310	594	21	3	951	3	SHANK2	11	70331792	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	706363	70331792	64674724	1557	7109											
KRTAP5-9	3846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	71259735	71259735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctccggaggctgtgGctccagctgtggaggctgtg	18	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:71259735G>T	ENST00000528743.2	+	1	270	c.32G>T	c.(31-33)gGc>gTc	p.G11V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	11					epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGAGGCTGTGGCTCCAGCTGT	0.657																																					p.G11V		.											.	.	0			c.G32T						.						67	78	74					11																	71259735		2200	4293	6493	SO:0001583	missense	3846	exon1			GCTGTGGCTCCAG	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.32G>T	11.37:g.71259735G>T	ENSP00000431443:p.Gly11Val	Somatic	405	1		WXS	Illumina GAIIx	Phase_I	331	189	NM_005553	0	0	0	0	0	Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	4.103	0.017249	0.07959	.	.	ENSG00000254997	ENST00000528743	T	0.05199	3.48	1.47	0.396	0.16309	.	.	.	.	.	T	0.09862	0.0242	M	0.90309	3.105	0.45066	D	0.998087	B	0.31209	0.313	B	0.24155	0.051	T	0.03060	-1.1077	9	0.36615	T	0.2	.	5.4062	0.16323	0.0:0.361:0.639:0.0	.	11	P26371	KRA59_HUMAN	V	11	ENSP00000431443:G11V	ENSP00000431443:G11V	G	+	2	0	KRTAP5-9	70937383	0.660000	0.27420	0.996000	0.52242	0.272000	0.26649	1.588000	0.36633	0.137000	0.18759	0.442000	0.29010	GGC	.		0.657	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			T	71259735	G	T	71259735	3	4	31	1	0	0	0	0	1	0	0	0	8596	1203	42	3	34	3	KRTAP5-9	11	71259735	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	927943	71259735	63746781	1558	7110											
UCP2	7351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73687909	73687909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctcgggcaatggtcTtgtaggcattgacggtgctt	12	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:73687909T>A	ENST00000310473.3	-	5	1333	c.491A>T	c.(490-492)aAg>aTg	p.K164M	UCP2_ENST00000536983.1_Missense_Mutation_p.K164M|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	164					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGCAATGGTCTTGTAGGCATT	0.592																																					p.K164M	Colon(191;388 2040 43557 45622 48925)	.											.	UCP2-90	0			c.A491T						.						136	127	130					11																	73687909		2200	4293	6493	SO:0001583	missense	7351	exon5			ATGGTCTTGTAGG	U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.491A>T	11.37:g.73687909T>A	ENSP00000312029:p.Lys164Met	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	229	116	NM_003355	0	0	0	0	0	Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	t	18.06	3.538345	0.65085	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615;ENST00000545212	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.92	3.59	0.41128	Mitochondrial carrier domain (2);	0.204155	0.48767	D	0.000170	D	0.85813	0.5784	M	0.72894	2.215	0.35036	D	0.759308	P;P	0.35328	0.495;0.494	P;P	0.55871	0.459;0.786	D	0.84887	0.0834	10	0.32370	T	0.25	-0.5815	7.456	0.27266	0.0:0.3377:0.0:0.6623	.	164;164	F5GX45;P55851	.;UCP2_HUMAN	M	164;164;137;48	ENSP00000312029:K164M;ENSP00000441147:K164M;ENSP00000439951:K137M;ENSP00000439706:K48M	ENSP00000312029:K164M	K	-	2	0	UCP2	73365557	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.811000	0.27198	0.494000	0.27859	-0.360000	0.07572	AAG	.		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		A	73687909	T	A	73687909	3	1	31	1	0	0	0	0	1	0	0	0	16980	1609	56	5	454	5	UCP2	11	73687909	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2428174	73687909	61318607	1559	7111											
ARRB1	408	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	74978733	74978733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagattggtatctactggcgTctcgttctctggaactaaac	10	9	3	1	rs373898995		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:74978733T>A	ENST00000420843.2	-	15	1205	c.1108A>T	c.(1108-1110)Acg>Tcg	p.T370S	CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000360025.3_Missense_Mutation_p.T362S|ARRB1_ENST00000393505.4_Missense_Mutation_p.T370S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	370	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCTACTGGCGTCTCGTTCTCT	0.607													T|||	1	0.000199681	0	0.0014	5008	,	,		10869	0		0	False		,,,				2504	0				p.T370S		.											.	ARRB1-567	0			c.A1108T						.	T	SER/THR,SER/THR	1,4399	2.1+/-5.4	0,1,2199	56	53	54		1108,1084	-1.3	0.4	11		54	0,8586		0,0,4293	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	58,58	0,1,6492	AA,AT,TT		0.0,0.0227,0.0077	benign,benign	370/419,362/411	74978733	1,12985	2200	4293	6493	SO:0001583	missense	408	exon15			CTGGCGTCTCGTT	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1108A>T	11.37:g.74978733T>A	ENSP00000409581:p.Thr370Ser	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_004041	0	0	0	0	0	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	T	8.021	0.759621	0.15846	2.27E-4	0.0	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	T;T;T	0.09255	3.0;3.0;3.0	5.15	-1.33	0.09172	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.421858	0.21381	N	0.075472	T	0.06050	0.0157	L	0.29908	0.895	0.26157	N	0.980066	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.45160	-0.9280	10	0.09084	T	0.74	-2.7064	9.4048	0.38455	0.0:0.4878:0.0:0.5122	.	362;370	P49407-2;P49407	.;ARRB1_HUMAN	S	370;370;362	ENSP00000409581:T370S;ENSP00000377141:T370S;ENSP00000353124:T362S	ENSP00000353124:T362S	T	-	1	0	ARRB1	74656381	0.546000	0.26457	0.355000	0.25773	0.913000	0.54294	0.381000	0.20619	-0.472000	0.06881	-0.366000	0.07423	ACG	.		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		A	74978733	T	A	74978733	3	1	31	1	0	0	0	0	1	0	0	0	981	1667	58	5	156	5	ARRB1	11	74978733	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1290824	74978733	60027783	1560	7112											
UVRAG	7405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	75563004	75563004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagctccttgatacctActttacacttcacttgtgta	4	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:75563004A>T	ENST00000356136.3	+	2	435	c.194A>T	c.(193-195)tAc>tTc	p.Y65F	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	65	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTTGATACCTACTTTACACTT	0.373																																					p.Y65F		.											.	UVRAG-229	0			c.A194T						.						105	107	106					11																	75563004		2200	4293	6493	SO:0001583	missense	7405	exon2			ATACCTACTTTAC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.194A>T	11.37:g.75563004A>T	ENSP00000348455:p.Tyr65Phe	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	64	33	NM_003369	0	0	0	0	0	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130026	0.77549	.	.	ENSG00000198382	ENST00000356136	T	0.78003	-1.14	6.06	4.91	0.64330	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.054249	0.85682	D	0.000000	T	0.71576	0.3356	L	0.39633	1.23	0.80722	D	1	B	0.30281	0.275	B	0.36030	0.216	T	0.68239	-0.5461	10	0.44086	T	0.13	-11.6253	10.8127	0.46557	0.8582:0.0:0.0:0.1418	.	65	Q9P2Y5	UVRAG_HUMAN	F	65	ENSP00000348455:Y65F	ENSP00000348455:Y65F	Y	+	2	0	UVRAG	75240652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.257000	0.78362	1.067000	0.40740	0.533000	0.62120	TAC	.		0.373	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		T	75563004	A	T	75563004	3	4	31	1	0	0	0	0	1	0	0	0	17157	391	14	5	200	5	UVRAG	11	75563004	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	584271	75563004	59443512	1561	7113											
TMEM135	65084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	87013485	87013485	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatttgtggattcaatGtgagctctttatcttgatat	9	4	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:87013485G>T	ENST00000305494.5	+	8	737		c.e8+1		TMEM135_ENST00000532959.1_Splice_Site|TMEM135_ENST00000535167.1_Splice_Site|TMEM135_ENST00000340353.7_Splice_Site	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135						peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGATTCAATGTGAGCTCTTT	0.353																																					.		.											.	TMEM135-514	0			c.632+1G>T						.						137	149	145					11																	87013485		2201	4299	6500	SO:0001630	splice_region_variant	65084	exon7			TTCAATGTGAGCT	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.698+1G>T	11.37:g.87013485G>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	56	24	NM_001168724	0	0	0	0	0	Q6AW91|Q8ND01|Q9H6M3	Splice_Site	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860977	0.51482	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8642	0.92285	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM135	86691133	1.000000	0.71417	0.998000	0.56505	0.315000	0.28087	7.916000	0.87491	2.768000	0.95171	0.655000	0.94253	.	.		0.353	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	Intron	T	87013485	G	T	87013485	5	4	31	1	0	0	0	0	0	0	1	0	16098	1391	48	3	729	3	TMEM135	11	87013485	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	11450481	87013485	47993031	1562	7114											
CTSC	1075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	88045699	88045699	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtctcgttgcagtaagtggtCaccttgctgccctcttcttt	9	12	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:88045699C>G	ENST00000227266.5	-	3	456	c.342G>C	c.(340-342)gtG>gtC	p.V114V		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	114					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTAAGTGGTCACCTTGCTGC	0.458																																					p.V114V		.											.	CTSC-90	0			c.G342C						.						194	183	186					11																	88045699		2201	4299	6500	SO:0001819	synonymous_variant	1075	exon3			AGTGGTCACCTTG	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.342G>C	11.37:g.88045699C>G		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	61	32	NM_001814	0	0	0	0	0	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832466	0.02713	.	.	ENSG00000109861	ENST00000527018	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.45822	D	0.998694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5682	0.27892	0.1288:0.4242:0.3189:0.1281	.	.	.	.	S	71	.	.	X	-	2	2	CTSC	87685347	0.005000	0.15991	0.002000	0.10522	0.164000	0.22412	-1.713000	0.01883	-4.205000	0.00065	-0.793000	0.03317	TGA	.		0.458	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		G	88045699	C	G	88045699	2	3	31	1	0	0	0	0	0	0	0	1	4040	813	29	3		3	CTSC	11	88045699	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1032214	88045699	46960817	1563	7115											
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	88242036	88242036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgcgcctcccgtgacttcGatggccggcagaggctggat	15	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:88242036G>A	ENST00000305447.4	-	9	3512	c.3363C>T	c.(3361-3363)atC>atT	p.I1121I	GRM5_ENST00000305432.5_Silent_p.I1089I|GRM5_ENST00000418177.2_Silent_p.I1121I|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Silent_p.I1089I|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1121					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)	p.I1089I(1)|p.I1121I(1)		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)	CCGTGACTTCGATGGCCGGCA	0.731																																					p.I1121I		.											.	GRM5-949	2	Substitution - coding silent(2)	large_intestine(2)	c.C3363T						.						8	10	9					11																	88242036		2192	4287	6479	SO:0001819	synonymous_variant	2915	exon9			GACTTCGATGGCC	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.3363C>T	11.37:g.88242036G>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	71	31	NM_001143831	0	0	0	0	0	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																			.		0.731	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88242036	G	A	88242036	2	1	31	1	0	0	0	0	0	0	0	1	6827	1048	37	1		1	GRM5	11	88242036	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	196337	88242036	46764480	1564	7116											
NOX4	50507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	89223635	89223635	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accttacttacccccaacatCtggtggaggtagtgatactc	8	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:89223635C>G	ENST00000263317.4	-	2	382	c.144G>C	c.(142-144)caG>caC	p.Q48H	NOX4_ENST00000525196.1_Missense_Mutation_p.Q48H|NOX4_ENST00000542487.1_Missense_Mutation_p.Q24H|NOX4_ENST00000527956.1_Missense_Mutation_p.Q24H|NOX4_ENST00000393282.2_Missense_Mutation_p.Q48H|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000424319.1_Missense_Mutation_p.Q24H|NOX4_ENST00000535633.1_Missense_Mutation_p.Q24H|NOX4_ENST00000532825.1_Missense_Mutation_p.Q24H|NOX4_ENST00000413594.2_Missense_Mutation_p.Q69H|NOX4_ENST00000343727.5_Missense_Mutation_p.Q24H|NOX4_ENST00000531342.1_Missense_Mutation_p.Q48H|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000375979.3_Missense_Mutation_p.Q48H|NOX4_ENST00000534731.1_Missense_Mutation_p.Q48H			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	48					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCCCAACATCTGGTGGAGGT	0.433																																					p.Q48H		.											.	NOX4-515	0			c.G144C						.						134	129	131					11																	89223635		2201	4299	6500	SO:0001583	missense	50507	exon2			CAACATCTGGTGG	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.144G>C	11.37:g.89223635C>G	ENSP00000263317:p.Gln48His	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	27	17	NM_001143836	0	0	0	0	0	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865691	0.32977	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.63;-3.63;-3.63;-3.61;-3.64;-3.56;-3.7;-3.63;-3.63;-3.67;-3.04;-2.98	5.1	4.18	0.49190	.	0.143604	0.47455	D	0.000223	D	0.91429	0.7295	L	0.42245	1.32	0.42638	D	0.9934	B;P;P;P;B;B	0.41041	0.232;0.736;0.729;0.729;0.002;0.247	B;B;B;B;B;B	0.38056	0.176;0.205;0.264;0.264;0.009;0.146	D	0.88777	0.3268	9	.	.	.	-2.7051	9.9933	0.41885	0.0:0.9038:0.0:0.0962	.	24;48;48;48;48;48	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	H	24;24;24;48;48;48;24;24;24;69;48;48;48	ENSP00000412446:Q24H;ENSP00000440172:Q24H;ENSP00000344747:Q24H;ENSP00000436892:Q48H;ENSP00000436716:Q48H;ENSP00000263317:Q48H;ENSP00000434924:Q24H;ENSP00000433797:Q24H;ENSP00000439373:Q24H;ENSP00000405705:Q69H;ENSP00000435039:Q48H;ENSP00000365146:Q48H	.	Q	-	3	2	NOX4	88863283	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	1.806000	0.38892	1.121000	0.41925	0.313000	0.20887	CAG	.		0.433	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		G	89223635	C	G	89223635	3	3	31	1	0	0	0	0	1	0	0	0	10597	912	32	3	1660	3	NOX4	11	89223635	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	981599	89223635	45782881	1565	7117											
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	92534391	92534391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattttgcccagtcagaatGtctggttcagcacagttaat	10	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:92534391G>A	ENST00000298047.6	+	9	8229	c.8212G>A	c.(8212-8214)Gtc>Atc	p.V2738I	FAT3_ENST00000525166.1_Missense_Mutation_p.V2588I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2738I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2738	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)			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)				CAGTCAGAATGTCTGGTTCAG	0.463										TCGA Ovarian(4;0.039)																											p.V2738I		.											.	FAT3-73	0			c.G8212A						.						57	55	56					11																	92534391		1932	4145	6077	SO:0001583	missense	120114	exon9			CAGAATGTCTGGT	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.8212G>A	11.37:g.92534391G>A	ENSP00000298047:p.Val2738Ile	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	56	30	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	12.32	1.903310	0.33628	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61040	0.14;0.14;0.14	5.74	5.74	0.90152	.	.	.	.	.	T	0.42877	0.1222	N	0.25031	0.7	0.80722	D	1	B	0.31625	0.332	B	0.29440	0.102	T	0.39057	-0.9632	9	0.06236	T	0.91	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	2738	Q8TDW7-3	.	I	2738;2738;2588	ENSP00000298047:V2738I;ENSP00000387040:V2738I;ENSP00000432586:V2588I	ENSP00000298047:V2738I	V	+	1	0	FAT3	92174039	0.984000	0.35163	0.404000	0.26397	0.795000	0.44927	4.132000	0.57977	2.722000	0.93159	0.591000	0.81541	GTC	.		0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92534391	G	A	92534391	3	1	31	1	0	0	0	0	1	0	0	0	5713	1377	48	3	8246	3	FAT3	11	92534391	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3310756	92534391	42472125	1566	7118											
FAT3	120114	hgsc.bcm.edu;bcgsc.ca	37	chr11	92616454	92616455	+	Frame_Shift_Ins	INS	-	-	G													ccgcatcctgacagcccggcINSggggcgtggtcgtgtgcagt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:92616454_92616455insG	ENST00000298047.6	+	23	12849_12850	c.12832_12833insG	c.(12832-12834)cggfs	p.R4278fs	FAT3_ENST00000533797.1_Frame_Shift_Ins_p.R613fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.R4128fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.R4278fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4278					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.R4278W(1)|p.R853W(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)				GACAGCCCGGCGGGGCGTGGTC	0.663										TCGA Ovarian(4;0.039)																											p.R4278fs		.											.	FAT3-73	2	Substitution - Missense(2)	prostate(2)	c.12832_12833insG						.																																			SO:0001589	frameshift_variant	120114	exon23			GCCCGGCGGGGCG	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.12836dupG	11.37:g.92616458_92616458dupG	ENSP00000298047:p.Arg4278fs	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	82	35	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37																																																																																				.		0.663	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92616455	-	G	92616454	7	5	31	1	0	1	1	0	0	0	0	0	5713	759	27	0	12922	0	FAT3	11	92616454	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	82063	92616454	42390062	1567	7119											
FOLR4	390243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	94039684	94039684	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctgccttcagtgcatCccctggaaggacaatgcctg	9	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:94039684C>T	ENST00000440961.2	+	2	188	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	48					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TTCAGTGCATCCCCTGGAAGG	0.522																																					p.I48I		.											.	FOLR4-23	0			c.C144T						.						175	173	174					11																	94039684		2041	4197	6238	SO:0001819	synonymous_variant	390243	exon2			GTGCATCCCCTGG			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.144C>T	11.37:g.94039684C>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	79	39	NM_001199206	0	0	0	0	0		Silent	SNP	ENST00000440961.2	37		.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062591	0.07273	.	.	ENSG00000183560	ENST00000328458	.	.	.	4.75	-1.48	0.08745	.	.	.	.	.	T	0.50650	0.1628	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40365	-0.9567	4	.	.	.	-19.6503	6.2057	0.20602	0.1168:0.3238:0.4796:0.0798	.	.	.	.	F	42	.	.	S	+	2	0	FOLR4	93679332	0.001000	0.12720	0.031000	0.17742	0.537000	0.34900	-0.137000	0.10389	-0.322000	0.08615	-0.314000	0.08810	TCC	.		0.522	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		T	94039684	C	T	94039684	2	4	31	1	0	0	0	0	0	0	0	1	6006	845	30	3		3	FOLR4	11	94039684	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1423230	94039684	40966832	1568	7120											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	99942487	99942487	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgatccacaatgtgaatcaAtcagatgctggaatgtatca	8	7	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:99942487A>T	ENST00000524871.1	+	12	1640	c.1350A>T	c.(1348-1350)caA>caT	p.Q450H	CNTN5_ENST00000418526.2_Missense_Mutation_p.Q376H|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q450H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q450H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q450H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	450	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGTGAATCAATCAGATGCTG	0.353																																					p.Q450H		.											.	CNTN5-366	0			c.A1350T						.						123	115	118					11																	99942487		1880	4142	6022	SO:0001583	missense	53942	exon11			GAATCAATCAGAT	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.1350A>T	11.37:g.99942487A>T	ENSP00000435637:p.Gln450His	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	81	50	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639029	0.67130	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.48	-1.45	0.08828	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266972	0.39759	N	0.001270	T	0.77219	0.4098	N	0.20574	0.59	0.42527	D	0.993024	P;P;P	0.51653	0.947;0.889;0.947	D;P;P	0.64687	0.928;0.774;0.907	T	0.74867	-0.3518	10	0.87932	D	0	.	9.0978	0.36649	0.244:0.1603:0.5957:0.0	.	450;376;450	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	H	450;450;450;376;450	ENSP00000433575:Q450H;ENSP00000436185:Q450H;ENSP00000435637:Q450H;ENSP00000393229:Q376H;ENSP00000279463:Q450H	ENSP00000279463:Q450H	Q	+	3	2	CNTN5	99447697	0.692000	0.27719	0.995000	0.50966	0.986000	0.74619	-0.141000	0.10327	-0.191000	0.10448	-0.254000	0.11334	CAA	.		0.353	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99942487	A	T	99942487	3	4	31	1	0	0	0	0	1	0	0	0	3651	98	4	5	1388	5	CNTN5	11	99942487	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	5902803	99942487	35064029	1569	7121											
PDGFD	80310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	103818443	103818444	+	Nonsense_Mutation	DNP	GG	GG	AT													ctctgaagctgctgcgggttGgaaatcttcctggaaggcaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:103818443_103818444GG>AT	ENST00000393158.2	-	4	698_699	c.519_520CC>AT	c.(517-522)ttCCaa>ttATaa	p.173_174FQ>L*	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Nonsense_Mutation_p.167_168FQ>L*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	173					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCTGCGGGTTGGAAATCTTCCT	0.411																																					p.FQ173L*		.											.	PDGFD-723	0			c.C519A						.																																			SO:0001587	stop_gained	80310	exon4			GGGTTGGAAATCT	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.519_520delinsAT	11.37:g.103818443_103818444delinsAT	ENSP00000376865:p.F173_Q174delinsL*	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	43	0	NM_025208	0	0	0	0	0	A8K9T6|Q9BWV5	Nonsense_Mutation	DNP	ENST00000393158.2	37	CCDS41703.1																																																																																			.		0.411	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		AT	103818444	GG	AT	103818443	4	1	31	1	0	0	0	0	0	1	0	0	11699	1357	47	3	608	3	PDGFD	11	103818443	Nonsense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	3875956	103818443	31188073	1570	7122											
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	108236144	108236144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaggcactgtgctcaGtgttggtggacaagtgaatt	15	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:108236144G>T	ENST00000452508.2	+	64	9269	c.9080G>T	c.(9079-9081)aGt>aTt	p.S3027I	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.S3027I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3027	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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)	ACTGTGCTCAGTGTTGGTGGA	0.448			"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.S3027I		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM-3419	0			c.G9080T						.						146	141	143					11																	108236144		2201	4298	6499	SO:0001583	missense	472	exon63	Familial Cancer Database	AT, Louis-Bar syndrome	TGCTCAGTGTTGG	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.9080G>T	11.37:g.108236144G>T	ENSP00000388058:p.Ser3027Ile	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	46	28	NM_000051	0	0	0	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332060	0.81801	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83506	-1.73;-1.73	5.09	5.09	0.68999	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.041854	0.85682	D	0.000000	D	0.94479	0.8223	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96070	0.9045	10	0.87932	D	0	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	3027	Q13315	ATM_HUMAN	I	3027	ENSP00000278616:S3027I;ENSP00000388058:S3027I	ENSP00000278616:S3027I	S	+	2	0	ATM	107741354	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.289000	0.72696	2.657000	0.90304	0.558000	0.71614	AGT	.		0.448	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108236144	G	T	108236144	3	4	31	1	0	0	0	0	1	0	0	0	1110	1029	36	3	9326	3	ATM	11	108236144	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4417701	108236144	26770372	1571	7123											
ARHGAP20	57569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	110482045	110482045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacttacagttatccctagCattggtaatgacatgttgat	7	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:110482045C>A	ENST00000260283.4	-	8	980	c.696G>T	c.(694-696)atG>atT	p.M232I	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M209I|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M196I|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M196I|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M206I|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M206I	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	232	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTATCCCTAGCATTGGTAATG	0.259																																					p.M232I		.											.	ARHGAP20-230	0			c.G696T						.						43	39	40					11																	110482045		2192	4250	6442	SO:0001583	missense	57569	exon8			CCCTAGCATTGGT	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.696G>T	11.37:g.110482045C>A	ENSP00000260283:p.Met232Ile	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	48	23	NM_020809	0	0	0	0	0	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420936	0.62622	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	6.16	3.32	0.38043	Ras-association (2);	0.422610	0.30676	N	0.009113	T	0.23688	0.0573	L	0.52011	1.625	0.25779	N	0.984753	P;P	0.45348	0.856;0.826	P;P	0.49887	0.625;0.491	T	0.03739	-1.1008	10	0.59425	D	0.04	.	10.6674	0.45739	0.0:0.7924:0.0:0.2076	.	232;209	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	I	232;206;209;196;206;196	ENSP00000260283:M232I;ENSP00000349660:M206I;ENSP00000432076:M209I;ENSP00000436319:M196I;ENSP00000436522:M206I;ENSP00000431399:M196I	ENSP00000260283:M232I	M	-	3	0	ARHGAP20	109987255	1.000000	0.71417	0.885000	0.34714	0.982000	0.71751	2.516000	0.45520	0.485000	0.27652	0.650000	0.86243	ATG	.		0.259	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		A	110482045	C	A	110482045	3	1	31	1	0	0	0	0	1	0	0	0	870	710	25	3	2915	3	ARHGAP20	11	110482045	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2245901	110482045	24524471	1572	7124											
TIMM8B	26521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	111956172	111956172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttatcccaacataactcCatgaagtgatgcacctaaaa	4	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:111956172C>A	ENST00000504148.2	-	2	170	c.99G>T	c.(97-99)atG>atT	p.M33I	SDHD_ENST00000528021.1_5'Flank|SDHD_ENST00000526592.1_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.M48I|SDHD_ENST00000528182.1_5'Flank|SDHD_ENST00000375549.3_5'Flank|SDHD_ENST00000525291.1_5'Flank|TIMM8B_ENST00000507614.1_5'UTR|SDHD_ENST00000528048.1_5'Flank|SDHD_ENST00000532699.1_5'Flank	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	33					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	zinc ion binding (GO:0008270)			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|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;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AACATAACTCCATGAAGTGAT	0.433																																					p.M48I		.											.	TIMM8B-90	0			c.G144T						.						86	74	78					11																	111956172		2201	4297	6498	SO:0001583	missense	26521	exon2			TAACTCCATGAAG	AF150087	CCDS8357.1, CCDS8357.2	11q23.1-q23.2	2010-11-23	2001-11-28		ENSG00000150779	ENSG00000150779			11818	protein-coding gene	gene with protein product	"mitochondrial import inner membrane translocase subunit Tim8 B"	606659	"translocase of inner mitochondrial membrane 8 (yeast) homolog B"			10552927	Standard	NM_012459		Approved	TIM8B, DDP2, FLJ21744, MGC102866, MGC117373	uc001pmx.3	Q9Y5J9	OTTHUMG00000162261	ENST00000504148.2:c.99G>T	11.37:g.111956172C>A	ENSP00000422122:p.Met33Ile	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	42	24	NM_012459	0	0	0	0	0	B0YJA5|Q3KQS9|Q9UN04	Missense_Mutation	SNP	ENST00000504148.2	37		.	.	.	.	.	.	.	.	.	.	C	16.08	3.021185	0.54576	.	.	ENSG00000150779	ENST00000504148;ENST00000541231	T;T	0.62788	0.0;0.0	5.41	5.41	0.78517	.	0.089139	0.85682	N	0.000000	T	0.62392	0.2424	.	.	.	0.35983	D	0.836176	B	0.29886	0.26	B	0.34452	0.183	T	0.70234	-0.4928	9	0.72032	D	0.01	-14.7978	18.0273	0.89273	0.0:1.0:0.0:0.0	.	33	Q9Y5J9	TIM8B_HUMAN	I	33;48	ENSP00000422122:M33I;ENSP00000438455:M48I	ENSP00000422122:M33I	M	-	3	0	TIMM8B	111461382	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.406000	0.34646	2.565000	0.86533	0.549000	0.68633	ATG	.		0.433	TIMM8B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000368270.2	NM_012459		A	111956172	C	A	111956172	3	1	31	1	0	0	0	0	1	0	0	0	15962	594	21	3	156	3	TIMM8B	11	111956172	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1474127	111956172	23050344	1573	7125											
BCO2	83875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	112087010	112087010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaggaaccaatgaagAagatggtggggttattcttt	12	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:112087010A>C	ENST00000357685.5	+	11	1718	c.1583A>C	c.(1582-1584)gAa>gCa	p.E528A	BCO2_ENST00000361053.4_Missense_Mutation_p.E455A|BCO2_ENST00000393032.2_Missense_Mutation_p.E494A|BCO2_ENST00000531169.1_Missense_Mutation_p.E494A|BCO2_ENST00000438022.1_Missense_Mutation_p.E494A|BCO2_ENST00000526088.1_Missense_Mutation_p.E488A|BCO2_ENST00000532593.1_Missense_Mutation_p.E423A			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	528					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						ACCAATGAAGAAGATGGTGGG	0.413																																					p.E528A	GBM(177;1916 2099 21049 29541 39946)	.											.	BCO2-68	0			c.A1583C						.						166	160	162					11																	112087010		2201	4297	6498	SO:0001583	missense	83875	exon11			ATGAAGAAGATGG	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.1583A>C	11.37:g.112087010A>C	ENSP00000350314:p.Glu528Ala	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	95	57	NM_031938	0	0	0	0	0	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.223096|4.223096	0.79464|0.79464	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000525175	D;D;D;D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9|.	5.79|5.79	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81823|0.81823	0.4904|0.4904	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.994;0.998;0.996|.	D|D	0.85013|0.85013	0.0907|0.0907	10|5	0.87932|.	D|.	0|.	-12.9702|-12.9702	10.7771|10.7771	0.46356|0.46356	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.	499;455;528|.	C9JEZ9;E9PBI8;Q9BYV7|.	.;.;BCDO2_HUMAN|.	A|S	528;494;455;494;488;423;494|62	ENSP00000350314:E528A;ENSP00000376752:E494A;ENSP00000354338:E455A;ENSP00000414843:E494A;ENSP00000436615:E488A;ENSP00000431802:E423A;ENSP00000437053:E494A|.	ENSP00000350314:E528A|.	E|R	+|+	2|3	0|2	BCO2|BCO2	111592220|111592220	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.977000|0.977000	0.68977|0.68977	8.111000|8.111000	0.89564|0.89564	1.030000|1.030000	0.39839|0.39839	0.528000|0.528000	0.53228|0.53228	GAA|AGA	.		0.413	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		C	112087010	A	C	112087010	3	2	31	1	0	0	0	0	1	0	0	0	1386	246	9	5	1625	5	BCO2	11	112087010	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	130838	112087010	22919506	1574	7126											
FXYD2	486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	117691574	117691574	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccaggcagcgctcacCtgcgcttcttattgccccca	7	19	3	0	rs139816783		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:117691574C>T	ENST00000292079.2	-	4	241	c.176G>A	c.(175-177)aGg>aAg	p.R59K	FXYD2_ENST00000260287.2_Splice_Site_p.R57K|RP11-728F11.3_ENST00000531850.2_RNA|FXYD2_ENST00000514385.1_5'Flank|FXYD2_ENST00000528014.1_Splice_Site_p.R57K|FXYD2_ENST00000532119.1_Splice_Site_p.R57K|RP11-728F11.3_ENST00000596805.1_RNA|FXYD6-FXYD2_ENST00000532984.1_3'UTR	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	59					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)	p.R57K(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	CAGCGCTCACCTGCGCTTCTT	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		10233	0		0	False		,,,				2504	0				p.R137K		.											.	.	1	Substitution - Missense(1)	ovary(1)	c.G410A						.	C	LYS/ARG,LYS/ARG,LYS/ARG	5,4397	9.9+/-24.2	0,5,2196	100	119	113		410,176,170	4.2	0.9	11	dbSNP_134	113	0,8592		0,0,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice	FXYD2,FXYD6-FXYD2	NM_001204268.1,NM_001680.4,NM_021603.3	26,26,26	0,5,6492	TT,TC,CC		0.0,0.1136,0.0385	,,	137/145,59/67,57/65	117691574	5,12989	2201	4296	6497	SO:0001630	splice_region_variant	100533181	exon9			GCTCACCTGCGCT	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"hypomagnesemia 2, renal"	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.176+1G>A	11.37:g.117691574C>T		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	34	18	NM_001204268	0	0	0	0	0	Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Missense_Mutation	SNP	ENST00000292079.2	37	CCDS8386.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252889	0.80135	0.001136	0.0	ENSG00000137731	ENST00000532119;ENST00000528014;ENST00000292079;ENST00000260287	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.79323	0.4426	.	.	.	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	T	0.79822	-0.1641	7	.	.	.	.	12.1901	0.54266	0.0:1.0:0.0:0.0	.	57;59	P54710-2;P54710	.;ATNG_HUMAN	K	57;57;59;57	ENSP00000436414:R57K;ENSP00000432430:R57K;ENSP00000292079:R59K;ENSP00000260287:R57K	.	R	-	2	0	FXYD2	117196784	0.990000	0.36364	0.875000	0.34327	0.120000	0.20174	3.775000	0.55349	2.321000	0.78463	0.655000	0.94253	AGG	C|1.000;T|0.000		0.552	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603	Missense_Mutation	T	117691574	C	T	117691574	5	4	31	1	0	0	0	0	0	0	1	0	6142	695	24	3	32	3	FXYD2	11	117691574	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5604564	117691574	17314942	1575	7127											
SCN2B	6327	bcgsc.ca	37	chr11	118038851	118038851	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggccacggtggcggtcagGggggttcatgatgtagcagt	18	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:118038851G>C	ENST00000278947.5	-	3	638	c.397C>G	c.(397-399)Cct>Gct	p.P133A		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	133	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|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)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCGGTCAGGGGGGTTCATG	0.597																																					p.P133A		.											.	SCN2B-90	0			c.C397G						.						100	69	79					11																	118038851		2200	4296	6496	SO:0001583	missense	6327	exon3			GGTCAGGGGGGTT	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.397C>G	11.37:g.118038851G>C	ENSP00000278947:p.Pro133Ala	Somatic	253	4		WXS	Illumina GAIIx	Phase_I	199	127	NM_004588	0	0	0	0	0	O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286791	0.80803	.	.	ENSG00000149575	ENST00000278947	D	0.93811	-3.29	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97177	0.9848	10	0.72032	D	0.01	-21.3414	17.8498	0.88742	0.0:0.0:1.0:0.0	.	133	O60939	SCN2B_HUMAN	A	133	ENSP00000278947:P133A	ENSP00000278947:P133A	P	-	1	0	SCN2B	117544061	1.000000	0.71417	0.695000	0.30226	0.727000	0.41649	8.983000	0.93477	2.552000	0.86080	0.655000	0.94253	CCT	.		0.597	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		C	118038851	G	C	118038851	3	2	31	1	0	0	0	0	1	0	0	0	13962	1232	43	3	258	3	SCN2B	11	118038851	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	347277	118038851	16967665	1576	7128											
NLRX1	79671	bcgsc.ca	37	chr11	119052826	119052826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaacaacccgctgacggCggcaggtgttgccgtgctaa	13	13	0	1	rs4245191	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:119052826C>A	ENST00000409109.1	+	9	2965	c.2378C>A	c.(2377-2379)gCg>gAg	p.A793E	NLRX1_ENST00000525863.1_Missense_Mutation_p.A793E|NLRX1_ENST00000292199.2_Missense_Mutation_p.A793E|NLRX1_ENST00000409265.4_Missense_Mutation_p.A793E|NLRX1_ENST00000409991.1_Missense_Mutation_p.A793E	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	793	Required for the repression of MAVS- induced interferon signaling.		A -> E (in dbSNP:rs4245191). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGACGGCGGCAGGTGTT	0.632													C|||	3447	0.688299	0.708	0.4179	5008	,	,		18563	0.8839		0.5477	False		,,,				2504	0.7965				p.A793E		.											.	NLRX1-92	0			c.C2378A						.	C	GLU/ALA,GLU/ALA	2971,1429	652.9+/-399.5	1024,923,253	124	118	120		2378,2378	2.9	0	11	dbSNP_111	120	4477,4113	565.2+/-388.4	1172,2133,990	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	107,107	2196,3056,1243	AA,AC,CC		47.8813,32.4773,42.6636	benign,benign	793/976,793/922	119052826	7448,5542	2200	4295	6495	SO:0001583	missense	79671	exon9			TGACGGCGGCAGG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2378C>A	11.37:g.119052826C>A	ENSP00000387334:p.Ala793Glu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_024618	0	0	0	0	0	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	1419	0.6497252747252747	349	0.709349593495935	166	0.4585635359116022	496	0.8671328671328671	408	0.5382585751978892	C	0.006	-2.091840	0.00364	0.675227	0.521187	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.78	2.91	0.33838	.	0.152719	0.40640	N	0.001049	T	0.00012	0.0000	N	0.03115	-0.41	0.54753	P	1.799999999996249E-5	B;B	0.15719	0.014;0.007	B;B	0.17979	0.02;0.006	T	0.40590	-0.9555	9	0.02654	T	1	.	6.5557	0.22460	0.1759:0.6611:0.0:0.163	rs4245191;rs17627663;rs17845376;rs17858230;rs61333211;rs4245191	793;793	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	E	793	ENSP00000386851:A793E;ENSP00000292199:A793E;ENSP00000386858:A793E;ENSP00000387334:A793E;ENSP00000433442:A793E	ENSP00000292199:A793E	A	+	2	0	NLRX1	118558036	0.979000	0.34478	0.018000	0.16275	0.003000	0.03518	2.559000	0.45888	0.628000	0.30357	0.609000	0.83330	GCG	C|0.378;A|0.622		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119052826	C	A	119052826	3	1	31	1	0	0	0	0	1	0	0	0	10524	768	27	2	2408	2	NLRX1	11	119052826	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1013975	119052826	15953690	1577	7129											
TECTA	7007	bcgsc.ca	37	chr11	120998820	120998820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccaagcgggagaccGtgtgcctgctcagccagaac	12	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:120998820G>C	ENST00000392793.1	+	9	2405	c.2134G>C	c.(2134-2136)Gtg>Ctg	p.V712L	TECTA_ENST00000264037.2_Missense_Mutation_p.V712L			O75443	TECTA_HUMAN	tectorin alpha	712	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGGAGACCGTGTGCCTGCT	0.657																																					p.V712L		.											.	TECTA-225	0			c.G2134C						.						81	67	72					11																	120998820		2203	4299	6502	SO:0001583	missense	7007	exon8			GAGACCGTGTGCC	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.2134G>C	11.37:g.120998820G>C	ENSP00000376543:p.Val712Leu	Somatic	75	2		WXS	Illumina GAIIx	Phase_I	82	47	NM_005422	0	0	0	0	0		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631555	0.14322	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37058	1.22;1.22	5.67	3.68	0.42216	von Willebrand factor, type D domain (2);	0.218308	0.39615	N	0.001307	T	0.15998	0.0385	N	0.03177	-0.4	0.25190	N	0.990137	B	0.11235	0.004	B	0.08055	0.003	T	0.16305	-1.0407	10	0.23302	T	0.38	.	11.0777	0.48040	0.0:0.197:0.5817:0.2213	.	712	O75443	TECTA_HUMAN	L	712	ENSP00000376543:V712L;ENSP00000264037:V712L	ENSP00000264037:V712L	V	+	1	0	TECTA	120504030	0.778000	0.28640	0.990000	0.47175	0.300000	0.27592	0.884000	0.28214	1.394000	0.46624	0.655000	0.94253	GTG	.		0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		C	120998820	G	C	120998820	3	2	31	1	0	0	0	0	1	0	0	0	15794	1145	40	2	2164	2	TECTA	11	120998820	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1945994	120998820	14007696	1578	7130											
HSPA8	3312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	122929389	122929389	+	Silent	SNP	C	C	A													tcttttcccgtactcttgtcCacagcagagacattgagtat							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:122929389C>A	ENST00000532636.1	-	7	1592	c.1473G>T	c.(1471-1473)gtG>gtT	p.V491V	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Silent_p.V255V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Silent_p.V491V|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Silent_p.V472V|HSPA8_ENST00000534624.1_Silent_p.V491V|HSPA8_ENST00000533540.1_Silent_p.V345V|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	491					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)		TACTCTTGTCCACAGCAGAGA	0.438																																					p.V491V	Colon(21;486 594 5900 6733 14272)	.											.	HSPA8-654	0			c.G1473T						.						148	143	145					11																	122929389		2202	4299	6501	SO:0001819	synonymous_variant	3312	exon7			CTTGTCCACAGCA	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.1473G>T	11.37:g.122929389C>A		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_006597	0	0	0	0	0	Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																			.		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122929389	C	A	122929389	2	1	31	1	0	0	0	0	0	0	0	1	7443	581	21	3		3	HSPA8	11	122929389	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1930569	122929389	12077127	1579	7131	57	2									
HSPA8	3312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	122929391	122929391	+	Missense_Mutation	SNP	C	C	A													ttttcccgtactcttgtccaCagcagagacattgagtatac							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:122929391C>A	ENST00000532636.1	-	7	1590	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.V255L|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.V491L|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Missense_Mutation_p.V472L|HSPA8_ENST00000534624.1_Missense_Mutation_p.V491L|HSPA8_ENST00000533540.1_Missense_Mutation_p.V345L|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	491					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)		CTCTTGTCCACAGCAGAGACA	0.438																																					p.V491L	Colon(21;486 594 5900 6733 14272)	.											.	HSPA8-654	0			c.G1471T						.						147	143	144					11																	122929391		2202	4299	6501	SO:0001583	missense	3312	exon7			TGTCCACAGCAGA	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.1471G>T	11.37:g.122929391C>A	ENSP00000437125:p.Val491Leu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_006597	0	0	0	0	0	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127928	0.77549	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48;5.48;5.48;5.48	4.45	4.45	0.53987	.	0.071903	0.52532	D	0.000065	T	0.01421	0.0046	L	0.41824	1.3	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.63310	-0.6666	10	0.46703	T	0.11	-11.8248	17.4636	0.87626	0.0:1.0:0.0:0.0	.	491;491	Q53GZ6;P11142	.;HSP7C_HUMAN	L	491;345;491;491;255;472;82;43	ENSP00000437125:V491L;ENSP00000437189:V345L;ENSP00000432083:V491L;ENSP00000227378:V491L;ENSP00000433316:V255L;ENSP00000433584:V472L;ENSP00000435908:V82L;ENSP00000435019:V43L	ENSP00000227378:V491L	V	-	1	0	HSPA8	122434601	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.791000	0.85805	2.167000	0.68274	0.561000	0.74099	GTG	.		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122929391	C	A	122929391	3	1	31	1	0	0	0	0	1	0	0	0	7443	478	17	3	481	3	HSPA8	11	122929391	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2	122929391	12077125	1580	7132	57	2									
OR10S1	219873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	123847992	123847992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgacagatagccagatagCggtcataggccatgactgtg	13	8	1	4	rs199683540		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:123847992C>A	ENST00000531945.1	-	1	496	c.407G>T	c.(406-408)cGc>cTc	p.R136L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, 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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCCAGATAGCGGTCATAGGC	0.542																																					p.R136L		.											.	OR10S1-70	0			c.G407T						.						100	83	88					11																	123847992		2202	4299	6501	SO:0001583	missense	219873	exon1			AGATAGCGGTCAT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.407G>T	11.37:g.123847992C>A	ENSP00000431914:p.Arg136Leu	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	101	57	NM_001004474	0	0	0	0	0	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283685	0.80803	.	.	ENSG00000196248	ENST00000531945	T	0.77358	-1.09	4.74	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	U	0.001587	D	0.91446	0.7300	H	0.97340	3.985	0.44834	D	0.997848	D	0.89917	1.0	D	0.72075	0.976	D	0.93549	0.6885	10	0.87932	D	0	-16.9097	12.6678	0.56851	0.0:0.9191:0.0:0.0809	.	136	Q8NGN2	O10S1_HUMAN	L	136	ENSP00000431914:R136L	ENSP00000431914:R136L	R	-	2	0	OR10S1	123353202	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.306000	0.78905	1.253000	0.44018	0.573000	0.79308	CGC	.		0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		A	123847992	C	A	123847992	3	1	31	1	0	0	0	0	1	0	0	0	10957	768	27	2	592	2	OR10S1	11	123847992	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	918601	123847992	11158524	1581	7133											
VWA5A	4013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124015980	124015980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccaccatcctggccGtgatctggctgcacagcaat	12	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:124015980G>T	ENST00000456829.2	+	18	2442	c.2191G>T	c.(2191-2193)Gtg>Ttg	p.V731L	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.V731L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	731										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CATCCTGGCCGTGATCTGGCT	0.552																																					p.V731L		.											.	VWA5A-92	0			c.G2191T						.						122	113	116					11																	124015980		2201	4299	6500	SO:0001583	missense	4013	exon17			CTGGCCGTGATCT	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2191G>T	11.37:g.124015980G>T	ENSP00000407726:p.Val731Leu	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	65	44	NM_014622	0	0	0	0	0	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	2.212	-0.380370	0.05000	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.14144	2.53;2.53	5.17	2.21	0.28008	.	0.284467	0.34435	N	0.003976	T	0.06416	0.0165	N	0.20357	0.565	0.29161	N	0.877773	B	0.11235	0.004	B	0.15484	0.013	T	0.41395	-0.9511	10	0.06099	T	0.92	-17.0838	6.754	0.23503	0.1648:0.1462:0.689:0.0	.	731	O00534	VMA5A_HUMAN	L	731	ENSP00000407726:V731L;ENSP00000376504:V731L	ENSP00000376504:V731L	V	+	1	0	VWA5A	123521190	0.800000	0.28916	0.005000	0.12908	0.406000	0.30931	0.887000	0.28254	0.319000	0.23209	0.655000	0.94253	GTG	.		0.552	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		T	124015980	G	T	124015980	3	4	31	1	0	0	0	0	1	0	0	0	17291	1145	40	2	2257	2	VWA5A	11	124015980	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	167988	124015980	10990536	1582	7134											
OR8A1	390275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124440239	124440239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggatctctgctactcctCcgtcattacccctaagatgc	6	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:124440239C>T	ENST00000284287.3	+	1	347	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	92					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		TGCTACTCCTCCGTCATTACC	0.463																																					p.S92F		.											.	OR8A1-69	0			c.C275T						.						188	171	177					11																	124440239		2201	4299	6500	SO:0001583	missense	390275	exon1			ACTCCTCCGTCAT	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.275C>T	11.37:g.124440239C>T	ENSP00000284287:p.Ser92Phe	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	84	46	NM_001005194	0	0	0	0	0	Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509387	0.85282	.	.	ENSG00000196119	ENST00000284287	T	0.00408	7.54	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000384	T	0.00936	0.0031	L	0.51422	1.61	0.49483	D	0.999798	D	0.76494	0.999	D	0.73380	0.98	T	0.80132	-0.1510	10	0.72032	D	0.01	.	17.9341	0.89007	0.0:1.0:0.0:0.0	.	92	Q8NGG7	OR8A1_HUMAN	F	92	ENSP00000284287:S92F	ENSP00000284287:S92F	S	+	2	0	OR8A1	123945449	0.258000	0.24033	1.000000	0.80357	0.954000	0.61252	4.555000	0.60767	2.549000	0.85964	0.585000	0.79938	TCC	.		0.463	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		T	124440239	C	T	124440239	3	4	31	1	0	0	0	0	1	0	0	0	11264	855	30	3	277	3	OR8A1	11	124440239	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	424259	124440239	10566277	1583	7135											
NTM	50863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	132204993	132204993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgaggagggcaggctgcGtctggctgctgcctcttctg	16	12	3	0	rs145004908		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:132204993G>T	ENST00000374786.1	+	7	1467	c.988G>T	c.(988-990)Gtc>Ttc	p.V330F	NTM_ENST00000427481.2_Missense_Mutation_p.V332F|NTM_ENST00000539799.1_Missense_Mutation_p.V341F|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.V341F|NTM_ENST00000374791.3_Missense_Mutation_p.V330F	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	330					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGCAGGCTGCGTCTGGCTGCT	0.607																																					p.V341F		.											.	NTM-95	0			c.G1021T						.						106	104	104					11																	132204993		2201	4297	6498	SO:0001583	missense	50863	exon8			GGCTGCGTCTGGC	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.988G>T	11.37:g.132204993G>T	ENSP00000363918:p.Val330Phe	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	43	27	NM_001144058	0	0	0	0	0	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186056	0.38609	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719	T;T;T;T;T	0.61274	0.23;0.18;0.12;0.25;0.17	5.13	-8.24	0.01029	.	1.210410	0.05618	N	0.579415	T	0.38772	0.1053	N	0.08118	0	0.09310	N	1	B;B;B;P;P;P	0.48089	0.429;0.411;0.098;0.546;0.61;0.905	B;B;B;B;B;P	0.47470	0.314;0.091;0.035;0.12;0.082;0.548	T	0.57556	-0.7791	10	0.66056	D	0.02	0.2619	9.0585	0.36421	0.3515:0.1994:0.4491:0.0	.	341;332;289;341;330;330	B7Z1Z5;B7Z1I4;B7Z1H3;Q9P121-4;Q9P121;Q9P121-2	.;.;.;.;NTRI_HUMAN;.	F	330;341;332;330;341	ENSP00000363923:V330F;ENSP00000437668:V341F;ENSP00000416320:V332F;ENSP00000363918:V330F;ENSP00000396722:V341F	ENSP00000363918:V330F	V	+	1	0	NTM	131710203	0.001000	0.12720	0.022000	0.16811	0.849000	0.48306	-0.418000	0.07080	-2.145000	0.00801	-1.106000	0.02097	GTC	G|1.000;A|0.000		0.607	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		T	132204993	G	T	132204993	3	4	31	1	0	0	0	0	1	0	0	0	10738	1145	40	2	1154	2	NTM	11	132204993	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7764754	132204993	2801523	1584	7136											
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	1994182	1994182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatctggaaggcttctctcaGggcttggtccacgaccccca	11	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:1994182G>T	ENST00000382722.5	-	10	1491	c.1129C>A	c.(1129-1131)Ctg>Atg	p.L377M	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.L313M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L293M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L377M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.L313M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L377M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	377	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCTTCTCTCAGGGCTTGGTCC	0.587																																					p.L377M	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C1129A						.						125	125	125					12																	1994182		1952	4138	6090	SO:0001583	missense	93589	exon10			CTCTCAGGGCTTG	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.1129C>A	12.37:g.1994182G>T	ENSP00000372169:p.Leu377Met	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	113	73	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049454	0.55218	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.26067	1.76	5.55	3.68	0.42216	von Willebrand factor, type A (3);	0.052643	0.85682	D	0.000000	T	0.33147	0.0853	L	0.49640	1.575	0.44036	D	0.996763	P;P	0.50066	0.931;0.776	P;B	0.52793	0.709;0.364	T	0.02596	-1.1136	10	0.51188	T	0.08	.	9.461	0.38785	0.2539:0.0:0.7461:0.0	.	377;377	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	313;377;377	ENSP00000372169:L377M	ENSP00000280663:L377M	L	-	1	2	CACNA2D4	1864443	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	3.264000	0.51553	0.661000	0.30985	0.549000	0.68633	CTG	.		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			T	1994182	G	T	1994182	3	4	31	1	0	0	0	0	1	0	0	0	2558	991	35	3	2400	3	CACNA2D4	12	1994182	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		1994182	131857713	1585	7137											
FGF6	2251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	4554551	4554551	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctctccagctagcccggcGcgagacctggacagcagggt	13	14	1	1	rs202212518		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4554551G>C	ENST00000228837.2	-	1	229	c.186C>G	c.(184-186)cgC>cgG	p.R62R		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	62					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.R62R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTAGCCCGGCGCGAGACCTGG	0.652																																					p.R62R		.											.	FGF6-659	1	Substitution - coding silent(1)	large_intestine(1)	c.C186G						.						86	81	83					12																	4554551		2203	4300	6503	SO:0001819	synonymous_variant	2251	exon1			CCCGGCGCGAGAC	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.186C>G	12.37:g.4554551G>C		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	86	52	NM_020996	0	0	0	0	0	Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																			G|0.999;A|0.000		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		C	4554551	G	C	4554551	2	2	31	1	0	0	0	0	0	0	0	1	5878	1074	38	2		2	FGF6	12	4554551	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2560369	4554551	129297344	1586	7138											
GALNT8	26290	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	4829958	4829958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttacaaaacctgtttacgGgtggtctccacagggagctt	10	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4829958G>T	ENST00000252318.2	+	1	452	c.115G>T	c.(115-117)Ggt>Tgt	p.G39C	RP11-234B24.6_ENST00000544741.2_Intron|RP11-234B24.2_ENST00000527518.1_lincRNA	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	39					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTGTTTACGGGTGGTCTCCA	0.483																																					p.G39C	Colon(108;631 1558 7270 20097 39846)	.											.	GALNT8-230	0			c.G115T						.						105	106	105					12																	4829958		2203	4300	6503	SO:0001583	missense	26290	exon1			TTTACGGGTGGTC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.115G>T	12.37:g.4829958G>T	ENSP00000252318:p.Gly39Cys	Somatic	124	1		WXS	Illumina GAIIx	Phase_I	144	91	NM_017417	0	0	0	0	0	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453220	0.43531	.	.	ENSG00000130035	ENST00000252318	T	0.58940	0.3	3.74	1.81	0.25067	.	1776.980000	0.00166	N	0.000000	T	0.54549	0.1865	L	0.48642	1.525	0.09310	N	1	P	0.52170	0.951	B	0.43990	0.438	T	0.42292	-0.9460	10	0.66056	D	0.02	.	5.1006	0.14756	0.1205:0.2135:0.6659:0.0	.	39	Q9NY28	GALT8_HUMAN	C	39	ENSP00000252318:G39C	ENSP00000252318:G39C	G	+	1	0	GALNT8	4700219	0.004000	0.15560	0.001000	0.08648	0.273000	0.26683	0.478000	0.22212	0.333000	0.23563	0.455000	0.32223	GGT	.		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		T	4829958	G	T	4829958	3	4	31	1	0	0	0	0	1	0	0	0	6244	1232	43	3	117	3	GALNT8	12	4829958	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	275407	4829958	129021937	1587	7139											
KCNA6	3742	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	4920365	4920365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcttcctcttcatcggGgtcatcctcttctccagtgc	6	15	7	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4920365G>A	ENST00000280684.3	+	1	2024	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G386G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	386					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCTTCATCGGGGTCATCCTCT	0.582										HNSCC(72;0.22)																											p.G386G		.											.	KCNA6-93	0			c.G1158A						.						87	74	78					12																	4920365		2203	4298	6501	SO:0001819	synonymous_variant	3742	exon1			CATCGGGGTCATC	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1158G>A	12.37:g.4920365G>A		Somatic	275	1		WXS	Illumina GAIIx	Phase_I	267	176	NM_002235	0	0	0	0	0		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																			.		0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4920365	G	A	4920365	2	1	31	1	0	0	0	0	0	0	0	1	8034	1219	43	3		3	KCNA6	12	4920365	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	90407	4920365	128931530	1588	7140											
KCNA5	3741	bcgsc.ca	37	chr12	5153809	5153809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaggaacgagtacttcttcGaccgcaaccggcccagcttc	10	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:5153809G>T	ENST00000252321.3	+	1	725	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	166					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.D166N(1)|p.D166Y(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GTACTTCTTCGACCGCAACCG	0.667																																					p.D166Y		.											.	KCNA5-715	2	Substitution - Missense(2)	large_intestine(2)	c.G496T						.						38	41	40					12																	5153809		2203	4300	6503	SO:0001583	missense	3741	exon1			TTCTTCGACCGCA	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.496G>T	12.37:g.5153809G>T	ENSP00000252321:p.Asp166Tyr	Somatic	103	2		WXS	Illumina GAIIx	Phase_I	105	75	NM_002234	0	0	0	0	0	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620928	0.66787	.	.	ENSG00000130037	ENST00000252321	D	0.85773	-2.03	4.7	3.8	0.43715	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.95749	0.8617	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97103	0.9799	10	0.87932	D	0	.	13.9798	0.64297	0.0:0.1527:0.8473:0.0	.	166	P22460	KCNA5_HUMAN	Y	166	ENSP00000252321:D166Y	ENSP00000252321:D166Y	D	+	1	0	KCNA5	5024070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.580000	0.98207	1.182000	0.42928	0.511000	0.50034	GAC	.		0.667	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		T	5153809	G	T	5153809	3	4	31	1	0	0	0	0	1	0	0	0	8033	1058	37	2	498	2	KCNA5	12	5153809	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	233444	5153809	128698086	1589	7141											
ANO2	57101	broad.mit.edu;bcgsc.ca	37	chr12	6030236	6030236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaagctccagtccagcCtccatcagattgtgctcaaa	6	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6030236C>A	ENST00000356134.5	-	3	563	c.492G>T	c.(490-492)gaG>gaT	p.E164D	ANO2_ENST00000327087.8_Missense_Mutation_p.E164D|ANO2_ENST00000546188.1_Missense_Mutation_p.E164D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	168					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAGTCCAGCCTCCATCAGAT	0.602																																					p.E164D		.											.	ANO2-139	0			c.G492T						.						110	105	107					12																	6030236		2109	4224	6333	SO:0001583	missense	57101	exon3			TCCAGCCTCCATC	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.492G>T	12.37:g.6030236C>A	ENSP00000348453:p.Glu164Asp	Somatic	79	2		WXS	Illumina GAIIx	Phase_I	85	62	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	11.06	1.527008	0.27299	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66638	-0.22;-0.22;-0.22	4.84	-5.02	0.02982	.	0.198398	0.39985	N	0.001203	T	0.41858	0.1177	L	0.31526	0.94	0.24806	N	0.992673	B	0.14438	0.01	B	0.16289	0.015	T	0.17258	-1.0375	10	0.23891	T	0.37	.	5.4179	0.16384	0.2586:0.155:0.0:0.5864	.	164	Q9NQ90-3	.	D	164;164;164;168	ENSP00000314048:E164D;ENSP00000348453:E164D;ENSP00000440981:E164D	ENSP00000314048:E164D	E	-	3	2	ANO2	5900497	0.677000	0.27577	0.824000	0.32777	0.874000	0.50279	-0.411000	0.07142	-0.621000	0.05633	-0.253000	0.11424	GAG	.		0.602	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	6030236	C	A	6030236	3	1	31	1	0	0	0	0	1	0	0	0	697	680	24	3	2600	3	ANO2	12	6030236	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	876427	6030236	127821659	1590	7142											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6078387	6078387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgccttaccacagcgacaGcttgggcagcacgctgaggt	12	13	0	1	rs192262780		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6078387G>T	ENST00000261405.5	-	45	7973	c.7719C>A	c.(7717-7719)agC>agA	p.S2573R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2573					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)	CACAGCGACAGCTTGGGCAGC	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		18661	0		0	False		,,,				2504	0				p.S2573R		.											.	VWF-163	0			c.C7719A						.						28	27	27					12																	6078387		2203	4300	6503	SO:0001583	missense	7450	exon45			GCGACAGCTTGGG		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.7719C>A	12.37:g.6078387G>T	ENSP00000261405:p.Ser2573Arg	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	155	102	NM_000552	0	0	0	0	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.117	0.389919	0.11581	.	.	ENSG00000110799	ENST00000261405	T	0.64438	-0.1	4.87	3.98	0.46160	.	0.993499	0.08166	N	0.987750	T	0.55862	0.1947	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52902	-0.8513	10	0.42905	T	0.14	.	5.8237	0.18542	0.0966:0.0:0.712:0.1913	.	2573	P04275	VWF_HUMAN	R	2573	ENSP00000261405:S2573R	ENSP00000261405:S2573R	S	-	3	2	VWF	5948648	0.994000	0.37717	0.471000	0.27229	0.009000	0.06853	0.804000	0.27098	1.279000	0.44446	0.561000	0.74099	AGC	G|0.999;T|0.000		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6078387	G	T	6078387	3	4	31	1	0	0	0	0	1	0	0	0	17295	962	34	3	754	3	VWF	12	6078387	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	48151	6078387	127773508	1591	7143											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6125362	6125362	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctggcaccatgcatttctGaagtcaagtatcgcacagca	9	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6125362G>C	ENST00000261405.5	-	31	5602	c.5348C>G	c.(5347-5349)tCa>tGa	p.S1783*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1783	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGCATTTCTGAAGTCAAGTA	0.577																																					p.S1783X		.											.	VWF-163	0			c.C5348G						.						81	72	75					12																	6125362		2203	4300	6503	SO:0001587	stop_gained	7450	exon31			ATTTCTGAAGTCA		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.5348C>G	12.37:g.6125362G>C	ENSP00000261405:p.Ser1783*	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	286	74	NM_000552	0	0	0	0	0	Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	46	12.738036	0.99692	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.58	4.58	0.56647	.	0.000000	0.36740	N	0.002439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1379	0.81502	0.0:0.0:1.0:0.0	.	.	.	.	X	1783	.	ENSP00000261405:S1783X	S	-	2	0	VWF	5995623	1.000000	0.71417	0.289000	0.24876	0.682000	0.39822	7.091000	0.76923	2.374000	0.81015	0.555000	0.69702	TCA	.		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6125362	G	C	6125362	4	2	31	1	0	0	0	0	0	1	0	0	17295	1294	45	3	3181	3	VWF	12	6125362	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	46975	6125362	127726533	1592	7144											
LAG3	3902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6883823	6883823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattttgaactgctccttcAgccgccctgaccgcccagcc	7	18	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6883823A>T	ENST00000203629.2	+	4	907	c.574A>T	c.(574-576)Agc>Tgc	p.S192C	LAG3_ENST00000441671.2_Missense_Mutation_p.S192C	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	192	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCTCCTTCAGCCGCCCTGA	0.607																																					p.S192C		.											.	LAG3-90	0			c.A574T						.						49	49	49					12																	6883823		2203	4300	6503	SO:0001583	missense	3902	exon4			TCCTTCAGCCGCC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.574A>T	12.37:g.6883823A>T	ENSP00000203629:p.Ser192Cys	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	104	66	NM_002286	0	0	0	0	0	A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771696	0.49680	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.13901	2.55;2.55	4.53	2.09	0.27110	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.082591	0.52532	D	0.000075	T	0.26666	0.0652	M	0.62723	1.935	0.32470	N	0.542911	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.923	T	0.24870	-1.0148	10	0.72032	D	0.01	-7.8302	6.1464	0.20289	0.7862:0.0:0.2138:0.0	.	192;192	P18627;Q7Z643	LAG3_HUMAN;.	C	192	ENSP00000413825:S192C;ENSP00000203629:S192C	ENSP00000203629:S192C	S	+	1	0	LAG3	6754084	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	1.960000	0.40422	0.778000	0.33520	0.260000	0.18958	AGC	.		0.607	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			T	6883823	A	T	6883823	3	4	31	1	0	0	0	0	1	0	0	0	8628	188	7	5	588	5	LAG3	12	6883823	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	758461	6883823	126968072	1593	7145											
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7528358	7528358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccggatgttgaacaatgGggcataatgcaaggtgagtt	13	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:7528358G>A	ENST00000313599.3	-	10	2681	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.P885L|CD163L1_ENST00000396630.1_Missense_Mutation_p.P875L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	875	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGAACAATGGGGCATAATGC	0.438																																					p.P875L		.											.	CD163L1-100	0			c.C2624T						.						133	117	122					12																	7528358		2203	4300	6503	SO:0001583	missense	283316	exon10			ACAATGGGGCATA	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.2624C>T	12.37:g.7528358G>A	ENSP00000315945:p.Pro875Leu	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	135	95	NM_174941	0	0	0	0	0	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555298	0.45487	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.84	2.84	0.33178	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.598443	0.14704	N	0.303363	T	0.55000	0.1893	M	0.70108	2.13	0.09310	N	0.999997	D;D	0.89917	0.999;1.0	D;D	0.77557	0.984;0.99	T	0.34875	-0.9811	10	0.59425	D	0.04	.	9.2243	0.37395	0.0:0.0:1.0:0.0	.	885;875	E7EVK4;Q9NR16	.;C163B_HUMAN	L	875;885;875	ENSP00000315945:P875L;ENSP00000393474:P885L;ENSP00000379871:P875L	ENSP00000315945:P875L	P	-	2	0	CD163L1	7419625	0.146000	0.22672	0.002000	0.10522	0.116000	0.19942	1.909000	0.39917	1.580000	0.49851	0.455000	0.32223	CCC	.		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7528358	G	A	7528358	3	1	31	1	0	0	0	0	1	0	0	0	2975	1232	43	3	1777	3	CD163L1	12	7528358	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	644535	7528358	126323537	1594	7146											
C3AR1	719	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8212382	8212382	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaggccatccctacattgcGatgattctgacaccagattg	9	12	1	3	rs61736561		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:8212382G>C	ENST00000307637.4	-	2	603	c.400C>G	c.(400-402)Cgc>Ggc	p.R134G		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCTACATTGCGATGATTCTGA	0.478																																					p.R134G		.											.	C3AR1-227	0			c.C400G						.						227	182	197					12																	8212382		2203	4300	6503	SO:0001583	missense	719	exon2			CATTGCGATGATT	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.400C>G	12.37:g.8212382G>C	ENSP00000302079:p.Arg134Gly	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	122	76	NM_004054	0	0	0	0	0	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573785	0.65765	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.39406	1.08;1.08	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.73575	0.3604	M	0.92555	3.32	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.79931	-0.1595	10	0.87932	D	0	.	17.4698	0.87642	0.0:0.0:1.0:0.0	.	134	Q16581	C3AR_HUMAN	G	134	ENSP00000302079:R134G;ENSP00000444500:R134G	ENSP00000302079:R134G	R	-	1	0	C3AR1	8103649	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	3.129000	0.50500	2.713000	0.92767	0.655000	0.94253	CGC	G|0.986;A|0.014		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			C	8212382	G	C	8212382	3	2	31	1	0	0	0	0	1	0	0	0	2212	1058	37	2	1052	2	C3AR1	12	8212382	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	684024	8212382	125639513	1595	7147											
MFAP5	8076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8813475	8813475	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctacctcctcgttgactattGacccccaggggtatccagtc	8	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:8813475G>T	ENST00000359478.2	-	3	265	c.78C>A	c.(76-78)gtC>gtA	p.V26V	MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000535336.1_Silent_p.V26V|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000396549.2_Silent_p.V26V|MFAP5_ENST00000540087.1_Silent_p.V26V|MFAP5_ENST00000433590.2_Silent_p.V26V	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	26					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)					GTTGACTATTGACCCCCAGGG	0.428																																					p.V26V		.											.	MFAP5-577	0			c.C78A						.						86	87	87					12																	8813475		2203	4300	6503	SO:0001819	synonymous_variant	8076	exon3			ACTATTGACCCCC	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.78C>A	12.37:g.8813475G>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	58	35	NM_003480	0	0	0	0	0	B0AZL6|D3DUV1|Q7Z490	Silent	SNP	ENST00000359478.2	37	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.261482	0.01445	.	.	ENSG00000197614	ENST00000535411	.	.	.	4.81	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.24660	N	0.993478	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2805	9.0533	0.36389	0.1003:0.0:0.8997:0.0	.	.	.	.	X	16	.	.	S	-	2	0	MFAP5	8704742	0.276000	0.24211	0.042000	0.18584	0.018000	0.09664	1.196000	0.32198	1.378000	0.46305	0.655000	0.94253	TCA	.		0.428	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		T	8813475	G	T	8813475	2	4	31	1	0	0	0	0	0	0	0	1	9556	1277	45	3		3	MFAP5	12	8813475	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	601093	8813475	125038420	1596	7148											
PZP	5858	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	9334698	9334698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccacagggaaggataagGcaaaactgcctttcactgga	10	10	1	0	rs188078627		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:9334698G>T	ENST00000261336.2	-	14	1590	c.1562C>A	c.(1561-1563)gCc>gAc	p.A521D	PZP_ENST00000381997.2_Missense_Mutation_p.A390D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	521					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAAGGATAAGGCAAAACTGCC	0.413																																					p.A521D	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP-157	0			c.C1562A						.						61	53	56					12																	9334698		2203	4300	6503	SO:0001583	missense	5858	exon14			GATAAGGCAAAAC	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.1562C>A	12.37:g.9334698G>T	ENSP00000261336:p.Ala521Asp	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	118	75	NM_002864	0	0	0	0	0	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084714	0.20309	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.62941	-0.01;-0.01	3.93	0.94	0.19513	Alpha-2-macroglobulin, N-terminal 2 (1);	1.272750	0.05452	N	0.549605	T	0.61388	0.2343	L	0.50333	1.59	0.09310	N	1	P;B	0.45768	0.866;0.0	P;B	0.48598	0.583;0.003	T	0.47711	-0.9096	10	0.54805	T	0.06	.	3.6223	0.08100	0.2213:0.0:0.5845:0.1942	.	390;521	P20742-2;P20742	.;PZP_HUMAN	D	521;390	ENSP00000261336:A521D;ENSP00000371427:A390D	ENSP00000261336:A521D	A	-	2	0	PZP	9225965	0.093000	0.21703	0.001000	0.08648	0.290000	0.27261	0.591000	0.23969	-0.025000	0.13918	-0.378000	0.06908	GCC	G|0.999;A|0.001		0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9334698	G	T	9334698	3	4	31	1	0	0	0	0	1	0	0	0	12914	1203	42	3	2978	3	PZP	12	9334698	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	521223	9334698	124517197	1597	7149											
PZP	5858	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	9353011	9353011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatactgattatctttGgcacctgaactttgacctca	6	11	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:9353011G>T	ENST00000261336.2	-	7	732	c.704C>A	c.(703-705)cCa>cAa	p.P235Q	PZP_ENST00000381997.2_Missense_Mutation_p.P104Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	235					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATTATCTTTGGCACCTGAAC	0.313																																					p.P235Q	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP-157	0			c.C704A						.						127	112	117					12																	9353011		2203	4298	6501	SO:0001583	missense	5858	exon7			ATCTTTGGCACCT	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.704C>A	12.37:g.9353011G>T	ENSP00000261336:p.Pro235Gln	Somatic	69	1		WXS	Illumina GAIIx	Phase_I	60	36	NM_002864	0	0	0	0	0	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063717	0.55432	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.44083	1.15;0.93	3.37	3.37	0.38596	.	0.226724	0.29684	U	0.011473	T	0.66557	0.2801	M	0.88450	2.955	0.25277	N	0.989464	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.913	T	0.59172	-0.7504	10	0.62326	D	0.03	.	10.9328	0.47228	0.0:0.0:1.0:0.0	.	104;235	P20742-2;P20742	.;PZP_HUMAN	Q	235;104	ENSP00000261336:P235Q;ENSP00000371427:P104Q	ENSP00000261336:P235Q	P	-	2	0	PZP	9244278	0.999000	0.42202	0.974000	0.42286	0.216000	0.24613	5.093000	0.64517	1.847000	0.53656	0.305000	0.20034	CCA	.		0.313	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9353011	G	T	9353011	3	4	31	1	0	0	0	0	1	0	0	0	12914	1348	47	3	3864	3	PZP	12	9353011	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18313	9353011	124498884	1598	7150											
STYK1	55359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	10782211	10782211	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccaggtttttgtgtttccCcaggtattgatggaattgga	11	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:10782211C>A	ENST00000075503.3	-	6	1034	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTGTTTCCCCAGGTATTGA	0.522										HNSCC(73;0.22)																											p.G172W		.											.	STYK1-1379	0			c.G514T						.						71	69	70					12																	10782211		2203	4300	6503	SO:0001583	missense	55359	exon6			GTTTCCCCAGGTA	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.514G>T	12.37:g.10782211C>A	ENSP00000075503:p.Gly172Trp	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	64	33	NM_018423	0	0	0	0	0	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950604|3.950604	0.73787|0.73787	.|.	.|.	ENSG00000060140|ENSG00000060140	ENST00000075503|ENST00000542924	T|.	0.70631|.	-0.5|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87087|0.87087	0.6090|0.6090	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90109|0.90109	0.4190|0.4190	10|5	0.87932|.	D|.	0|.	-19.3764|-19.3764	17.4122|17.4122	0.87489|0.87489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	172|.	Q6J9G0|.	STYK1_HUMAN|.	W|C	172|9	ENSP00000075503:G172W|.	ENSP00000075503:G172W|.	G|W	-|-	1|3	0|0	STYK1|STYK1	10673478|10673478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	5.019000|5.019000	0.64060|0.64060	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GGG|TGG	.		0.522	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		A	10782211	C	A	10782211	3	1	31	1	0	0	0	0	1	0	0	0	15406	623	22	3	778	3	STYK1	12	10782211	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1429200	10782211	123069684	1599	7151											
ATF7IP	55729	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	14578095	14578095	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgattaatgaaaatgttattGaagataacaaaagtgagaat	8	2	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:14578095G>T	ENST00000540793.1	+	1	1401	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.E424*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	416	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAATGTTATTGAAGATAACAA	0.333																																					p.E416X		.											.	ATF7IP-252	0			c.G1246T						.						54	57	56					12																	14578095		2203	4299	6502	SO:0001587	stop_gained	55729	exon2			GTTATTGAAGATA	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.1246G>T	12.37:g.14578095G>T	ENSP00000444589:p.Glu416*	Somatic	54	1		WXS	Illumina GAIIx	Phase_I	31	19	NM_018179	0	0	0	0	0	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935949	0.34189	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	.	.	.	4.27	-2.99	0.05497	.	0.696409	0.13119	N	0.412353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.8324	4.7607	0.13106	0.1868:0.131:0.5529:0.1293	.	.	.	.	X	416;416;416;424;416;416	.	ENSP00000261168:E416X	E	+	1	0	ATF7IP	14469362	0.002000	0.14202	0.000000	0.03702	0.032000	0.12392	-0.190000	0.09615	-0.538000	0.06281	-0.469000	0.05056	GAA	.		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		T	14578095	G	T	14578095	4	4	31	1	0	0	0	0	0	1	0	0	1088	1291	45	3	1248	3	ATF7IP	12	14578095	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3795884	14578095	119273800	1600	7152											
PDE3A	5139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	20523173	20523173	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctgccctgtataccgaggGaacaggtaagcactggcaac	11	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:20523173G>T	ENST00000359062.3	+	1	995	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	319					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)	TATACCGAGGGAACAGGTAAG	0.592																																					p.E319X		.											.	PDE3A-94	0			c.G955T						.						25	24	25					12																	20523173		2201	4299	6500	SO:0001587	stop_gained	5139	exon1			CCGAGGGAACAGG		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.955G>T	12.37:g.20523173G>T	ENSP00000351957:p.Glu319*	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	37	25	NM_000921	0	0	0	0	0	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	40	7.936368	0.98571	.	.	ENSG00000172572	ENST00000359062	.	.	.	4.58	4.58	0.56647	.	2.424340	0.01183	N	0.007124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5461	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000351957:E319X	E	+	1	0	PDE3A	20414440	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	8.751000	0.91628	2.529000	0.85273	0.650000	0.86243	GAA	.		0.592	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20523173	G	T	20523173	4	4	31	1	0	0	0	0	0	1	0	0	11676	1175	41	3	957	3	PDE3A	12	20523173	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5945078	20523173	113328722	1601	7153											
SLCO1C1	53919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	20886031	20886031	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggactaactgtctccTaccaagggtatgttccctca	9	12	2	0	rs544314255		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:20886031T>A	ENST00000266509.2	+	10	1743	c.1375T>A	c.(1375-1377)Tac>Aac	p.Y459N	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y410N|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y459N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Y459N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.Y341N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	459					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AACTGTCTCCTACCAAGGGTA	0.363																																					p.Y459N		.											.	SLCO1C1-97	0			c.T1375A						.						153	138	143					12																	20886031		2203	4300	6503	SO:0001583	missense	53919	exon10			GTCTCCTACCAAG	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1375T>A	12.37:g.20886031T>A	ENSP00000266509:p.Tyr459Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	49	30	NM_017435	0	0	0	0	0	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303040	0.81136	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122107	0.64402	D	0.000019	T	0.73737	0.3625	H	0.94734	3.575	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;0.998;0.999	T	0.82275	-0.0538	10	0.87932	D	0	.	15.0568	0.71921	0.0:0.0:0.0:1.0	.	341;410;459;459	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	N	459;410;459;459;341	ENSP00000444149:Y459N;ENSP00000438665:Y410N;ENSP00000266509:Y459N;ENSP00000370964:Y459N;ENSP00000444527:Y341N	ENSP00000266509:Y459N	Y	+	1	0	SLCO1C1	20777298	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.495000	0.81514	2.134000	0.65973	0.482000	0.46254	TAC	.		0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20886031	T	A	20886031	3	1	31	1	0	0	0	0	1	0	0	0	14770	1522	53	5	1409	5	SLCO1C1	12	20886031	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	362858	20886031	112965864	1602	7154											
SOX5	6660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	23893815	23893815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcacttgttcttgttgctGcttggccagctccatttgct	8	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:23893815G>T	ENST00000451604.2	-	5	828	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	SOX5_ENST00000541536.1_Missense_Mutation_p.Q230K|SOX5_ENST00000537393.1_Missense_Mutation_p.Q208K|SOX5_ENST00000546136.1_Missense_Mutation_p.Q230K|SOX5_ENST00000381381.2_Missense_Mutation_p.Q230K|SOX5_ENST00000545921.1_Missense_Mutation_p.Q233K|SOX5_ENST00000541847.1_Missense_Mutation_p.Q233K|SOX5_ENST00000309359.1_Missense_Mutation_p.Q230K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	243					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)			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						TCTTGTTGCTGCTTGGCCAGC	0.493																																					p.Q243K		.											.	SOX5-655	0			c.C727A						.						140	127	131					12																	23893815		2203	4300	6503	SO:0001583	missense	6660	exon5			GTTGCTGCTTGGC	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.727C>A	12.37:g.23893815G>T	ENSP00000398273:p.Gln243Lys	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	50	33	NM_006940	0	0	0	0	0	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380920	0.95945	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.97688	-4.43;-4.43;-4.49;-4.43;-4.44;-4.49;-4.43	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.84948	2.725	0.80722	D	1	D;P;D	0.71674	0.997;0.811;0.998	D;P;D	0.66196	0.942;0.828;0.93	D	0.99470	1.0945	10	0.72032	D	0.01	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	208;230;243	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	K	230;230;230;243;195;208;230;233;233	ENSP00000437487:Q230K;ENSP00000308927:Q230K;ENSP00000370788:Q230K;ENSP00000398273:Q243K;ENSP00000439832:Q208K;ENSP00000441973:Q230K;ENSP00000443520:Q233K	ENSP00000308927:Q230K	Q	-	1	0	SOX5	23785082	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.458000	0.97634	2.736000	0.93811	0.591000	0.81541	CAG	.		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		T	23893815	G	T	23893815	3	4	31	1	0	0	0	0	1	0	0	0	14999	1328	46	3	1618	3	SOX5	12	23893815	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3007784	23893815	109958080	1603	7155											
CCDC91	55297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	28605587	28605587	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaagaaaaataagtcaGgttagtaatattaactgtta	7	3	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:28605587G>C	ENST00000545336.1	+	14	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Splice_Site_p.Q331H|CCDC91_ENST00000539107.1_Splice_Site_p.Q331H|CCDC91_ENST00000306172.5_Splice_Site_p.Q337H|CCDC91_ENST00000381259.1_Splice_Site_p.Q367H			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	367	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAATAAGTCAGGTTAGTAATA	0.279																																					p.Q367H		.											.	CCDC91-90	0			c.G1101C						.						35	38	37					12																	28605587		2193	4283	6476	SO:0001630	splice_region_variant	55297	exon10			AAGTCAGGTTAGT	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1101+1G>C	12.37:g.28605587G>C		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	35	14	NM_018318	0	0	0	0	0	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.444674|3.444674	0.63178|0.63178	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212|ENST00000542801	T;T;T;T;T;T;T|.	0.50277|.	1.3;0.94;1.31;1.31;0.94;1.29;0.75|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.106387|.	0.42172|.	D|.	0.000745|.	T|T	0.43743|0.43743	0.1261|0.1261	N|N	0.19112|0.19112	0.55|0.55	0.34264|0.34264	D|D	0.680283|0.680283	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	P;D;D|.	0.70935|.	0.899;0.971;0.971|.	T|T	0.53005|0.53005	-0.8499|-0.8499	10|5	0.87932|.	D|.	0|.	-10.1531|-10.1531	12.205|12.205	0.54346|0.54346	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	331;367;337|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	H|T	107;331;367;367;331;337;66|38	ENSP00000444440:Q107H;ENSP00000440513:Q331H;ENSP00000438040:Q367H;ENSP00000370658:Q367H;ENSP00000370655:Q331H;ENSP00000305075:Q337H;ENSP00000445999:Q66H|.	ENSP00000305075:Q337H|.	Q|R	+|+	3|2	2|0	CCDC91|CCDC91	28496854|28496854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.253000|2.253000	0.43205|0.43205	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	CAG|AGG	.		0.279	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Missense_Mutation	C	28605587	G	C	28605587	5	2	31	1	0	0	0	0	0	0	1	0	2877	1014	35	3	1139	3	CCDC91	12	28605587	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4711772	28605587	105246308	1604	7156											
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29598275	29598275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagggcatggaatgtcacCctcaccagcggtccaggact	11	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29598275C>A	ENST00000318184.5	-	23	2816	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	939	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGAATGTCACCCTCACCAGCG	0.373																																					p.R939S		.											.	OVCH1-210	0			c.G2817T						.						94	92	92					12																	29598275		1869	4110	5979	SO:0001583	missense	341350	exon23			TGTCACCCTCACC	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.2817G>T	12.37:g.29598275C>A	ENSP00000326708:p.Arg939Ser	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	52	34	NM_183378	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143487	0.01728	.	.	ENSG00000187950	ENST00000318184	T	0.34667	1.35	2.44	0.557	0.17260	CUB (5);	.	.	.	.	T	0.35913	0.0948	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	D	0.64042	0.921	T	0.15607	-1.0431	9	0.38643	T	0.18	.	4.8424	0.13496	0.0:0.6895:0.0:0.3105	.	939	Q7RTY7	OVCH1_HUMAN	S	939	ENSP00000326708:R939S	ENSP00000326708:R939S	R	-	3	2	OVCH1	29489542	0.365000	0.25006	0.019000	0.16419	0.095000	0.18619	-0.001000	0.12947	0.149000	0.19098	0.655000	0.94253	AGG	.		0.373	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29598275	C	A	29598275	3	1	31	1	0	0	0	0	1	0	0	0	11362	622	22	3	611	3	OVCH1	12	29598275	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	992688	29598275	104253620	1605	7157											
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29607850	29607850	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttgcatttattatttgtCtgaagtgaagcaggacctgt	10	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29607850C>A	ENST00000318184.5	-	21	2453	c.2454G>T	c.(2452-2454)caG>caT	p.Q818H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	818						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)					TATTATTTGTCTGAAGTGAAG	0.383																																					p.Q818H		.											.	OVCH1-210	0			c.G2454T						.						121	115	116					12																	29607850		1864	4094	5958	SO:0001583	missense	341350	exon21			ATTTGTCTGAAGT	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.2454G>T	12.37:g.29607850C>A	ENSP00000326708:p.Gln818His	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	60	36	NM_183378	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	12.86	2.063895	0.36373	.	.	ENSG00000187950	ENST00000318184	D	0.86627	-2.15	3.28	1.36	0.22044	.	.	.	.	.	T	0.70456	0.3226	N	0.14661	0.345	0.09310	N	1	B	0.33904	0.431	B	0.21546	0.035	T	0.62291	-0.6885	9	0.66056	D	0.02	.	3.8599	0.08991	0.2364:0.6348:0.0:0.1288	.	818	Q7RTY7	OVCH1_HUMAN	H	818	ENSP00000326708:Q818H	ENSP00000326708:Q818H	Q	-	3	2	OVCH1	29499117	0.001000	0.12720	0.019000	0.16419	0.338000	0.28826	-0.079000	0.11357	0.369000	0.24510	0.655000	0.94253	CAG	.		0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29607850	C	A	29607850	3	1	31	1	0	0	0	0	1	0	0	0	11362	912	32	3	982	3	OVCH1	12	29607850	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9575	29607850	104244045	1606	7158											
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29628092	29628092	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttactagaactgaatattGaagtgatggtcaacattcca	8	6	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29628092G>T	ENST00000318184.5	-	14	1501	c.1502C>A	c.(1501-1503)tCa>tAa	p.S501*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	501	CUB 2. {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)					ACTGAATATTGAAGTGATGGT	0.303																																					p.S501X		.											.	OVCH1-210	0			c.C1502A						.						38	34	36					12																	29628092		1810	4079	5889	SO:0001587	stop_gained	341350	exon14			AATATTGAAGTGA	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.1502C>A	12.37:g.29628092G>T	ENSP00000326708:p.Ser501*	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	103	70	NM_183378	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	19.06	3.754217	0.69648	.	.	ENSG00000187950	ENST00000318184	.	.	.	2.59	0.678	0.17969	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	6.4829	0.22073	0.1136:0.1856:0.7008:0.0	.	.	.	.	X	501	.	ENSP00000326708:S501X	S	-	2	0	OVCH1	29519359	0.001000	0.12720	0.000000	0.03702	0.174000	0.22865	0.871000	0.28023	0.167000	0.19631	0.467000	0.42956	TCA	.		0.303	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		T	29628092	G	T	29628092	4	4	31	1	0	0	0	0	0	1	0	0	11362	1294	45	3	1962	3	OVCH1	12	29628092	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	20242	29628092	104223803	1607	7159											
TMTC1	83857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	29908758	29908758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagaaacaaactgagcagCaagaagaagggagacaccgt	11	10	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29908758C>A	ENST00000539277.1	-	4	673	c.615G>T	c.(613-615)ttG>ttT	p.L205F	TMTC1_ENST00000256062.5_Missense_Mutation_p.L97F|TMTC1_ENST00000381224.2_Missense_Mutation_p.L97F|TMTC1_ENST00000552618.1_Missense_Mutation_p.L205F|TMTC1_ENST00000551659.1_Missense_Mutation_p.L205F	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	205						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)					AACTGAGCAGCAAGAAGAAGG	0.473																																					p.L205F		.											.	TMTC1-90	0			c.G615T						.						98	90	93					12																	29908758		2203	4300	6503	SO:0001583	missense	83857	exon4			GAGCAGCAAGAAG		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.615G>T	12.37:g.29908758C>A	ENSP00000442046:p.Leu205Phe	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	82	47	NM_001193451	0	0	0	0	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786878	0.70337	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.71698	-0.56;-0.33;-0.59;-0.46;1.27	5.45	4.54	0.55810	.	0.000000	0.64402	D	0.000003	T	0.80470	0.4629	L	0.59967	1.855	0.42623	D	0.993351	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.961	T	0.80276	-0.1450	9	.	.	.	-14.4501	13.4756	0.61306	0.0:0.7004:0.2996:0.0	.	97;205	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	F	97;205;205;205;97	ENSP00000256062:L97F;ENSP00000448112:L205F;ENSP00000449043:L205F;ENSP00000442046:L205F;ENSP00000370622:L97F	.	L	-	3	2	TMTC1	29800025	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	2.540000	0.45727	1.257000	0.44085	0.563000	0.77884	TTG	.		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		A	29908758	C	A	29908758	3	1	31	1	0	0	0	0	1	0	0	0	16307	709	25	3	2093	3	TMTC1	12	29908758	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	280666	29908758	103943137	1608	7160											
C12orf35	55196	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	32134534	32134534	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagattacagaccacctccAaagctataccgttactcacc	4	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:32134534A>T	ENST00000312561.4	+	4	1059	c.645A>T	c.(643-645)ccA>ccT	p.P215P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	215																	GACCACCTCCAAAGCTATACC	0.383																																					p.P215P		.											.	.	0			c.A645T						.						71	69	70					12																	32134534		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			ACCTCCAAAGCTA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.645A>T	12.37:g.32134534A>T		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	95	68	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		T	32134534	A	T	32134534	2	4	31	1	0	0	0	0	0	0	0	1	1687	117	5	5		5	C12orf35	12	32134534	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2225776	32134534	101717361	1609	7161											
C12orf35	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32136907	32136907	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgccactgaaaaaagcacAgctaacgatacgtgctcgtc	8	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:32136907A>T	ENST00000312561.4	+	4	3432	c.3018A>T	c.(3016-3018)acA>acT	p.T1006T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1006																	AAAAAAGCACAGCTAACGATA	0.418																																					p.T1006T		.											.	.	0			c.A3018T						.						52	51	51					12																	32136907		2203	4299	6502	SO:0001819	synonymous_variant	55196	exon4			AAGCACAGCTAAC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3018A>T	12.37:g.32136907A>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	54	36	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		T	32136907	A	T	32136907	2	4	31	1	0	0	0	0	0	0	0	1	1687	175	7	5		5	C12orf35	12	32136907	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2373	32136907	101714988	1610	7162											
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	39695356	39695356	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacccttcatctctccCactggcataaaagtatccat	4	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:39695356C>A	ENST00000361418.5	-	37	4872	c.4857G>T	c.(4855-4857)gtG>gtT	p.V1619V	KIF21A_ENST00000361961.3_Silent_p.V1606V|KIF21A_ENST00000541463.2_Silent_p.V1566V|KIF21A_ENST00000395670.3_Silent_p.V1620V|KIF21A_ENST00000544797.2_Silent_p.V1582V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1619					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1606V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCATCTCTCCCACTGGCATAA	0.458																																					p.V1619V		.											.	KIF21A-97	1	Substitution - coding silent(1)	lung(1)	c.G4857T						.						156	159	158					12																	39695356		2203	4300	6503	SO:0001819	synonymous_variant	55605	exon37			CTCTCCCACTGGC	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.4857G>T	12.37:g.39695356C>A		Somatic	179	0		WXS	Illumina GAIIx	Phase_I	171	126	NM_001173464	0	0	0	0	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	5.785	0.329200	0.10956	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43540	-0.9385	4	.	.	.	.	3.8422	0.08918	0.266:0.2837:0.3582:0.092	.	.	.	.	L	920	.	.	W	-	2	0	KIF21A	37981623	0.000000	0.05858	0.004000	0.12327	0.991000	0.79684	-1.892000	0.01610	-2.736000	0.00381	-0.272000	0.10252	TGG	.		0.458	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39695356	C	A	39695356	2	1	31	1	0	0	0	0	0	0	0	1	8315	581	21	3		3	KIF21A	12	39695356	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7558449	39695356	94156539	1611	7163											
CNTN1	1272	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	41463834	41463834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccttgtctacttggaattCtgaatgtgttgtgacagctg	10	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:41463834C>A	ENST00000551295.2	+	24	3171	c.3054C>A	c.(3052-3054)ttC>ttA	p.F1018L	CNTN1_ENST00000347616.1_Missense_Mutation_p.F1018L|CNTN1_ENST00000348761.2_Missense_Mutation_p.F1007L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1018					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.F1018F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTTGGAATTCTGAATGTGTT	0.507																																					p.F1018L		.											.	CNTN1-1149	1	Substitution - coding silent(1)	lung(1)	c.C3054A						.						179	136	150					12																	41463834		2203	4300	6503	SO:0001583	missense	1272	exon24			GGAATTCTGAATG	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.3054C>A	12.37:g.41463834C>A	ENSP00000447006:p.Phe1018Leu	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	72	49	NM_001843	0	0	0	0	0	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693204	0.48202	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57595	0.4;0.4;0.39	5.67	4.78	0.61160	.	0.115808	0.64402	D	0.000014	T	0.49847	0.1581	N	0.08118	0	0.80722	D	1	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.56202	-0.8018	10	0.49607	T	0.09	.	11.0895	0.48108	0.0:0.8581:0.0:0.1419	.	1007;1018	Q12860-2;Q12860	.;CNTN1_HUMAN	L	1018;1018;1007	ENSP00000447006:F1018L;ENSP00000325660:F1018L;ENSP00000261160:F1007L	ENSP00000325660:F1018L	F	+	3	2	CNTN1	39750101	0.999000	0.42202	1.000000	0.80357	0.913000	0.54294	0.462000	0.21956	1.551000	0.49450	-0.140000	0.14226	TTC	.		0.507	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41463834	C	A	41463834	3	1	31	1	0	0	0	0	1	0	0	0	3647	912	32	3	3144	3	CNTN1	12	41463834	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1768478	41463834	92388061	1612	7164											
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	43821221	43821221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcactttgtccattttcatCctggcagaccacagccctat	6	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:43821221C>A	ENST00000389420.3	-	27	3996	c.3997G>T	c.(3997-3999)Gat>Tat	p.D1333Y	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D451Y|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D1333Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1333	TSP type-1 9. {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)		CCATTTTCATCCTGGCAGACC	0.483																																					p.D1333Y		.											.	ADAMTS20-795	0			c.G3997T						.						115	85	95					12																	43821221		2203	4300	6503	SO:0001583	missense	80070	exon27			TTTCATCCTGGCA	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.3997G>T	12.37:g.43821221C>A	ENSP00000374071:p.Asp1333Tyr	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	94	56	NM_025003	0	0	0	0	0	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510129	0.85282	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.62;0.62;0.14	4.94	4.94	0.65067	.	0.110659	0.39210	N	0.001440	T	0.79695	0.4490	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83031	-0.0162	10	0.87932	D	0	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	1333;451	P59510;E9PBD5	ATS20_HUMAN;.	Y	1333;463;451;1333;1333	ENSP00000374071:D1333Y;ENSP00000447427:D463Y;ENSP00000378911:D451Y;ENSP00000448341:D1333Y	ENSP00000374068:D1333Y	D	-	1	0	ADAMTS20	42107488	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.678000	0.68153	2.670000	0.90874	0.650000	0.86243	GAT	.		0.483	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43821221	C	A	43821221	3	1	31	1	0	0	0	0	1	0	0	0	266	855	30	3	1786	3	ADAMTS20	12	43821221	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2357387	43821221	90030674	1613	7165											
PUS7L	83448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	44142372	44142372	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgatagctaaaaaaccaatCgcttcaaacatttccaggtt	5	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:44142372C>A	ENST00000416848.2	-	3	1439	c.951G>T	c.(949-951)gcG>gcT	p.A317A	PUS7L_ENST00000344862.5_Silent_p.A317A|PUS7L_ENST00000551923.1_Silent_p.A317A|PUS7L_ENST00000553166.1_Silent_p.A317A|PUS7L_ENST00000431332.3_Silent_p.A4A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	317					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAAACCAATCGCTTCAAACA	0.348																																					p.A317A		.											.	PUS7L-91	0			c.G951T						.						94	92	93					12																	44142372		2202	4300	6502	SO:0001819	synonymous_variant	83448	exon3			ACCAATCGCTTCA	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.951G>T	12.37:g.44142372C>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	38	26	NM_001098614	0	0	0	0	0	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	CCDS8743.1																																																																																			.		0.348	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		A	44142372	C	A	44142372	2	1	31	1	0	0	0	0	0	0	0	1	12879	871	31	2		2	PUS7L	12	44142372	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	321151	44142372	89709523	1614	7166											
TWF1	5756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	44190794	44190794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctacctttctaattacatcCatttgtagttgtctttctac	4	10	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:44190794C>A	ENST00000395510.2	-	8	996	c.867G>T	c.(865-867)atG>atT	p.M289I	TWF1_ENST00000325127.4_Missense_Mutation_p.M323I|TWF1_ENST00000552521.1_Missense_Mutation_p.M191I|TWF1_ENST00000548315.1_Missense_Mutation_p.M296I	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	289	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.M289I(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TAATTACATCCATTTGTAGTT	0.333																																					p.M296I		.											.	TWF1-797	1	Substitution - Missense(1)	large_intestine(1)	c.G888T						.						81	85	84					12																	44190794		2203	4299	6502	SO:0001583	missense	5756	exon9			TACATCCATTTGT	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.867G>T	12.37:g.44190794C>A	ENSP00000378886:p.Met289Ile	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	58	41	NM_001242397	0	0	0	0	0	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338626	0.11069	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.25749	1.78;2.54;2.53;2.53	5.55	5.55	0.83447	Actin-binding, cofilin/tropomyosin type (2);	0.118606	0.85682	D	0.000000	T	0.11410	0.0278	N	0.02181	-0.65	0.50039	D	0.999846	B;B	0.06786	0.001;0.0	B;B	0.17433	0.01;0.018	T	0.19321	-1.0309	10	0.06757	T	0.87	-29.9587	19.5094	0.95135	0.0:1.0:0.0:0.0	.	296;289	Q12792-3;Q12792	.;TWF1_HUMAN	I	191;289;323;296	ENSP00000448750:M191I;ENSP00000378886:M289I;ENSP00000321058:M323I;ENSP00000449428:M296I	ENSP00000321058:M323I	M	-	3	0	TWF1	42477061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.898000	0.39809	2.620000	0.88729	0.591000	0.81541	ATG	.		0.333	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		A	44190794	C	A	44190794	3	1	31	1	0	0	0	0	1	0	0	0	16830	594	21	3	193	3	TWF1	12	44190794	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	48422	44190794	89661101	1615	7167											
DBX2	440097	broad.mit.edu;bcgsc.ca	37	chr12	45444412	45444412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgaaaagcccaccgcgttCcgtagggcgccccggcgggg	15	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:45444412C>G	ENST00000332700.6	-	1	470	c.299G>C	c.(298-300)gGa>gCa	p.G100A	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	100					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CCACCGCGTTCCGTAGGGCGC	0.706																																					p.G100A		.											.	DBX2-90	0			c.G299C						.						6	7	7					12																	45444412		2038	4042	6080	SO:0001583	missense	440097	exon1			CGCGTTCCGTAGG		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.299G>C	12.37:g.45444412C>G	ENSP00000331470:p.Gly100Ala	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	158	70	NM_001004329	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332700.6	37	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387909	0.11581	.	.	ENSG00000185610	ENST00000332700	D	0.91068	-2.78	3.12	3.12	0.35913	.	0.306342	0.23391	N	0.048682	T	0.81356	0.4805	L	0.27053	0.805	0.09310	N	1	B	0.21520	0.057	B	0.17098	0.017	T	0.64071	-0.6493	10	0.13470	T	0.59	-7.8256	9.9197	0.41457	0.0:1.0:0.0:0.0	.	100	Q6ZNG2	DBX2_HUMAN	A	100	ENSP00000331470:G100A	ENSP00000331470:G100A	G	-	2	0	DBX2	43730679	0.420000	0.25457	0.193000	0.23327	0.806000	0.45545	1.442000	0.35046	1.746000	0.51805	0.558000	0.71614	GGA	.		0.706	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		G	45444412	C	G	45444412	3	3	31	1	0	0	0	0	1	0	0	0	4269	855	30	3	736	3	DBX2	12	45444412	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1253618	45444412	88407483	1616	7168											
ANO6	196527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	45742042	45742042	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgagaagaaccggatgaatGatttttacatagttgataga	10	3	0	6	rs145491348	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:45742042G>C	ENST00000320560.8	+	5	779	c.577G>C	c.(577-579)Gat>Cat	p.D193H	ANO6_ENST00000441606.2_Missense_Mutation_p.D175H|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.D193H|ANO6_ENST00000423947.3_Missense_Mutation_p.D214H|ANO6_ENST00000435642.1_Missense_Mutation_p.D193H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	193					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						CCGGATGAATGATTTTTACAT	0.413																																					p.D214H		.											.	ANO6-516	0			c.G640C						.						116	118	117					12																	45742042		2203	4300	6503	SO:0001583	missense	196527	exon6			ATGAATGATTTTT	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.577G>C	12.37:g.45742042G>C	ENSP00000320087:p.Asp193His	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	119	29	NM_001204803	0	0	0	0	0	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816677	0.32145	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.3	5.3	0.74995	.	0.392083	0.31624	N	0.007336	T	0.53514	0.1801	N	0.17082	0.46	0.38463	D	0.947274	P;B;P;B	0.51351	0.904;0.015;0.944;0.013	P;B;P;B	0.47206	0.535;0.028;0.541;0.011	T	0.50533	-0.8817	10	0.13108	T	0.6	.	13.6522	0.62318	0.0821:0.0:0.9179:0.0	.	175;214;193;193	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	193;214;193;193;175	ENSP00000391417:D193H;ENSP00000409126:D214H;ENSP00000413840:D193H;ENSP00000320087:D193H;ENSP00000413137:D175H	ENSP00000320087:D193H	D	+	1	0	ANO6	44028309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.350000	0.44063	2.861000	0.98227	0.655000	0.94253	GAT	G|1.000;T|0.000		0.413	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		C	45742042	G	C	45742042	3	2	31	1	0	0	0	0	1	0	0	0	701	1290	45	3	615	3	ANO6	12	45742042	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	297630	45742042	88109853	1617	7169											
DHH	50846	ucsc.edu;bcgsc.ca	37	chr12	49485010	49485010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacccatacttgttgcGgtcgcggtcagacgtagtga	12	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:49485010G>T	ENST00000266991.2	-	2	772	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	156					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						TACTTGTTGCGGTCGCGGTCA	0.617																																					p.R156S		.											.	DHH-710	0			c.C466A						.						173	140	151					12																	49485010		2203	4300	6503	SO:0001583	missense	50846	exon2			TGTTGCGGTCGCG	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.466C>A	12.37:g.49485010G>T	ENSP00000266991:p.Arg156Ser	Somatic	268	3		WXS	Illumina GAIIx	Phase_I	256	184	NM_021044	0	0	0	0	0	Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903148	0.72754	.	.	ENSG00000139549	ENST00000266991	D	0.99466	-5.95	5.27	5.27	0.74061	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054734	0.64402	D	0.000003	D	0.98902	0.9628	M	0.89030	3	0.47862	D	0.999536	P	0.48503	0.911	B	0.41619	0.361	D	0.98593	1.0655	10	0.87932	D	0	-13.2361	11.7161	0.51655	0.0:0.0:0.718:0.282	.	156	O43323	DHH_HUMAN	S	156	ENSP00000266991:R156S	ENSP00000266991:R156S	R	-	1	0	DHH	47771277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.434000	0.52841	2.645000	0.89757	0.650000	0.86243	CGC	.		0.617	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		T	49485010	G	T	49485010	3	4	31	1	0	0	0	0	1	0	0	0	4497	1116	39	2	732	2	DHH	12	49485010	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3742968	49485010	84366885	1618	7170											
NCKAP5L	57701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	50195681	50195681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctgaaacagggcacTcagcatctggttctgccgtt	10	11	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:50195681T>A	ENST00000335999.6	-	6	502	c.301A>T	c.(301-303)Agt>Tgt	p.S101C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	97										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AACAGGGCACTCAGCATCTGG	0.592																																					p.S101C		.											.	NCKAP5L-68	0			c.A301T						.						149	168	162					12																	50195681		2164	4249	6413	SO:0001583	missense	57701	exon6			GGGCACTCAGCAT	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.301A>T	12.37:g.50195681T>A	ENSP00000337998:p.Ser101Cys	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	168	117	NM_001037806	0	0	0	0	0	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563327	0.65651	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.49720	0.77	4.74	4.74	0.60224	.	.	.	.	.	T	0.51261	0.1664	N	0.17474	0.49	0.31013	N	0.71896	P	0.36599	0.56	P	0.57283	0.817	T	0.56220	-0.8015	9	0.31617	T	0.26	-7.149	13.5494	0.61723	0.0:0.0:0.0:1.0	.	97	E2QRB5	.	C	101;97	ENSP00000337998:S101C	ENSP00000337998:S101C	S	-	1	0	NCKAP5L	48481948	0.971000	0.33674	0.995000	0.50966	0.994000	0.84299	3.691000	0.54720	1.912000	0.55364	0.459000	0.35465	AGT	.		0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		A	50195681	T	A	50195681	3	1	31	1	0	0	0	0	1	0	0	0	10263	1551	54	5	3735	5	NCKAP5L	12	50195681	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	710671	50195681	83656214	1619	7171											
KRT6C	286887	bcgsc.ca	37	chr12	52863507	52863507	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgatctccacatccagGgccagcttgacattcatcag	10	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:52863507G>T	ENST00000252250.6	-	7	1418	c.1371C>A	c.(1369-1371)gcC>gcA	p.A457A		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	457	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCACATCCAGGGCCAGCTTGA	0.592																																					p.A457A		.											.	KRT6C-114	0			c.C1371A						.						118	104	109					12																	52863507		2203	4300	6503	SO:0001819	synonymous_variant	286887	exon7			ATCCAGGGCCAGC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1371C>A	12.37:g.52863507G>T		Somatic	142	3		WXS	Illumina GAIIx	Phase_I	171	127	NM_173086	0	0	0	0	0	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																			.		0.592	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		T	52863507	G	T	52863507	2	4	31	1	0	0	0	0	0	0	0	1	8509	1219	43	3		3	KRT6C	12	52863507	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2667826	52863507	80988388	1620	7172											
KRT74	121391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52967215	52967215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaggctcttgttgacaGtgacctggtggatgccccca	12	12	1	3	rs563878820	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:52967215G>A	ENST00000305620.2	-	1	394	c.347C>T	c.(346-348)aCt>aTt	p.T116I	KRT74_ENST00000549343.1_Missense_Mutation_p.T116I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	116	Head.				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)		CTTGTTGACAGTGACCTGGTG	0.632																																					p.T116I		.											.	KRT74-92	0			c.C347T						.						85	87	86					12																	52967215		2203	4300	6503	SO:0001583	missense	121391	exon1			TTGACAGTGACCT	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.347C>T	12.37:g.52967215G>A	ENSP00000307240:p.Thr116Ile	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	103	49	NM_175053	0	0	0	0	0	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998691	0.35226	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.78126	-1.15;-1.15	4.39	4.39	0.52855	.	0.000000	0.36409	N	0.002603	T	0.77579	0.4151	M	0.80028	2.48	0.28492	N	0.914449	B	0.19200	0.034	B	0.23852	0.049	T	0.73777	-0.3876	10	0.66056	D	0.02	.	10.2936	0.43610	0.0:0.2048:0.6624:0.1327	.	116	Q7RTS7	K2C74_HUMAN	I	116	ENSP00000447447:T116I;ENSP00000307240:T116I	ENSP00000307240:T116I	T	-	2	0	KRT74	51253482	0.000000	0.05858	0.934000	0.37439	0.863000	0.49368	-0.275000	0.08525	2.378000	0.81104	0.555000	0.69702	ACT	.		0.632	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		A	52967215	G	A	52967215	3	1	31	1	0	0	0	0	1	0	0	0	8514	1029	36	3	1278	3	KRT74	12	52967215	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	103708	52967215	80884680	1621	7173											
KRT73	319101	ucsc.edu;bcgsc.ca	37	chr12	53012266	53012266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagccgctgaagccccCcttggcagcagctcccgact	12	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:53012266C>A	ENST00000305748.3	-	1	77	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	15	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCCCCCCTTGGCAGCA	0.617																																					p.G15W		.											.	KRT73-157	0			c.G43T						.						37	44	41					12																	53012266		2200	4299	6499	SO:0001583	missense	319101	exon1			AGCCCCCCTTGGC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.43G>T	12.37:g.53012266C>A	ENSP00000307014:p.Gly15Trp	Somatic	173	3		WXS	Illumina GAIIx	Phase_I	182	125	NM_175068	0	0	0	0	0	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933199	0.52866	.	.	ENSG00000186049	ENST00000305748	D	0.95885	-3.84	4.58	3.69	0.42338	.	0.236944	0.29376	N	0.012325	D	0.94169	0.8129	M	0.87682	2.9	0.32021	N	0.600732	P	0.51653	0.947	B	0.40199	0.322	D	0.93909	0.7195	10	0.66056	D	0.02	.	6.6542	0.22979	0.0:0.7352:0.0:0.2648	.	15	Q86Y46	K2C73_HUMAN	W	15	ENSP00000307014:G15W	ENSP00000307014:G15W	G	-	1	0	KRT73	51298533	0.001000	0.12720	0.994000	0.49952	0.807000	0.45602	0.340000	0.19892	1.235000	0.43724	0.655000	0.94253	GGG	.		0.617	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		A	53012266	C	A	53012266	3	1	31	1	0	0	0	0	1	0	0	0	8513	623	22	3	1615	3	KRT73	12	53012266	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	45051	53012266	80839629	1622	7174											
IGFBP6	3489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53494882	53494882	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccagactgaggtctacCgaggggctcaaacactctac	9	13	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:53494882C>T	ENST00000301464.3	+	3	811	c.538C>T	c.(538-540)Cga>Tga	p.R180*	IGFBP6_ENST00000549628.1_3'UTR|SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Nonsense_Mutation_p.R178*	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	180	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.R180R(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						TGAGGTCTACCGAGGGGCTCA	0.572																																					p.R180X	Esophageal Squamous(83;1656 1718 30141 34380)	.											.	IGFBP6-523	1	Substitution - coding silent(1)	lung(1)	c.C538T						.						120	107	111					12																	53494882		2203	4300	6503	SO:0001587	stop_gained	3489	exon3			GTCTACCGAGGGG		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.538C>T	12.37:g.53494882C>T	ENSP00000301464:p.Arg180*	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	125	84	NM_002178	0	0	0	0	0	Q14492	Nonsense_Mutation	SNP	ENST00000301464.3	37	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883897	0.91814	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	.	.	.	4.43	1.56	0.23342	.	0.319207	0.30501	N	0.009483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-12.3004	5.3185	0.15868	0.3573:0.5469:0.0:0.0958	.	.	.	.	X	178;180	.	ENSP00000301464:R180X	R	+	1	2	IGFBP6	51781149	0.985000	0.35326	0.537000	0.28052	0.719000	0.41307	1.135000	0.31454	0.359000	0.24239	0.655000	0.94253	CGA	.		0.572	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			T	53494882	C	T	53494882	4	4	31	1	0	0	0	0	0	1	0	0	7610	644	23	1	548	1	IGFBP6	12	53494882	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	482616	53494882	80357013	1623	7175											
ERBB3	2065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56487188	56487188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatctctgggcttccgatCcctgaaggaaattagtgctg	10	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:56487188C>T	ENST00000267101.3	+	12	1774	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.S386F|ERBB3_ENST00000553131.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	445					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGCTTCCGATCCCTGAAGGAA	0.498																																					p.S445F		.											.	ERBB3-1403	0			c.C1334T						.						101	105	104					12																	56487188		2203	4300	6503	SO:0001583	missense	2065	exon12			TCCGATCCCTGAA	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1334C>T	12.37:g.56487188C>T	ENSP00000267101:p.Ser445Phe	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	115	27	NM_001982	0	0	0	0	0	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833449	0.91036	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.52526	0.66;0.66	5.16	5.16	0.70880	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000008	T	0.77987	0.4213	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84347	0.0530	10	0.87932	D	0	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	445;445	B4DGQ7;P21860	.;ERBB3_HUMAN	F	445;386	ENSP00000267101:S445F;ENSP00000408340:S386F	ENSP00000267101:S445F	S	+	2	0	ERBB3	54773455	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.942000	0.75928	2.676000	0.91093	0.655000	0.94253	TCC	.		0.498	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56487188	C	T	56487188	3	4	31	1	0	0	0	0	1	0	0	0	5224	855	30	3	1511	3	ERBB3	12	56487188	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2992306	56487188	77364707	1624	7176											
GNS	2799	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	65122777	65122777	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatccatctgtgtcttatTtaggtcgtagccagcaatgt	8	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:65122777T>A	ENST00000258145.3	-	10	1329	c.1159A>T	c.(1159-1161)Aat>Tat	p.N387Y	GNS_ENST00000543646.1_Missense_Mutation_p.N419Y|GNS_ENST00000542058.1_Missense_Mutation_p.N367Y|GNS_ENST00000418919.2_Missense_Mutation_p.N331Y	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TGTGTCTTATTTAGGTCGTAG	0.448																																					p.N387Y		.											.	GNS-514	0			c.A1159T						.						170	134	146					12																	65122777		2203	4300	6503	SO:0001583	missense	2799	exon10			TCTTATTTAGGTC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1159A>T	12.37:g.65122777T>A	ENSP00000258145:p.Asn387Tyr	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	128	72	NM_002076	0	0	0	0	0	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165424	0.38217	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042851	0.85682	D	0.000000	D	0.95341	0.8488	L	0.32530	0.975	0.58432	D	0.999998	D;D;B;D	0.61697	0.99;0.957;0.04;0.975	P;P;B;P	0.54174	0.744;0.546;0.063;0.574	D	0.94605	0.7799	9	.	.	.	-26.1401	15.8074	0.78524	0.0:0.0:0.0:1.0	.	367;419;387;331	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Y	331;387;419;367;304;324	ENSP00000413130:N331Y;ENSP00000258145:N387Y;ENSP00000438497:N419Y;ENSP00000444819:N367Y	.	N	-	1	0	GNS	63409044	1.000000	0.71417	0.961000	0.40146	0.103000	0.19146	5.904000	0.69886	2.206000	0.71126	0.455000	0.32223	AAT	.		0.448	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			A	65122777	T	A	65122777	3	1	31	1	0	0	0	0	1	0	0	0	6576	1841	64	5	519	5	GNS	12	65122777	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	8635589	65122777	68729118	1625	7177											
GRIP1	23426	ucsc.edu;bcgsc.ca	37	chr12	66838367	66838367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgatatgattatacctgCaacatcaaactcgatttcca	5	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:66838367C>G	ENST00000398016.3	-	12	1596	c.1528G>C	c.(1528-1530)Gca>Cca	p.A510P	GRIP1_ENST00000286445.7_Missense_Mutation_p.A562P|GRIP1_ENST00000359742.4_Missense_Mutation_p.A562P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTATACCTGCAACATCAAAC	0.408																																					p.A510P		.											.	GRIP1-494	0			c.G1528C						.						102	106	105					12																	66838367		1939	4143	6082	SO:0001583	missense	23426	exon12			TACCTGCAACATC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1528G>C	12.37:g.66838367C>G	ENSP00000381098:p.Ala510Pro	Somatic	156	4		WXS	Illumina GAIIx	Phase_I	142	78	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666576|4.666576	0.88251|0.88251	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.24538|.	1.87;1.88;1.88;1.85;1.94;1.97|.	5.62|5.62	5.62|5.62	0.85841|0.85841	PDZ/DHR/GLGF (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.851;1.0;0.656|.	D;P;D;P|.	0.97110|.	1.0;0.822;0.998;0.601|.	T|T	0.71474|0.71474	-0.4582|-0.4582	9|5	.|.	.|.	.|.	.|.	19.6584|19.6584	0.95853|0.95853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	510;562;510;562|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	P|F	510;562;562;510;454;402|376	ENSP00000381098:A510P;ENSP00000352780:A562P;ENSP00000286445:A562P;ENSP00000446047:A510P;ENSP00000446024:A454P;ENSP00000446011:A402P|.	.|.	A|L	-|-	1|3	0|2	GRIP1|GRIP1	65124634|65124634	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.798000|0.798000	0.45092|0.45092	7.487000|7.487000	0.81328|0.81328	2.645000|2.645000	0.89757|0.89757	0.551000|0.551000	0.68910|0.68910	GCA|TTG	.		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			G	66838367	C	G	66838367	3	3	31	1	0	0	0	0	1	0	0	0	6814	710	25	3	1754	3	GRIP1	12	66838367	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1715590	66838367	67013528	1626	7178											
CAND1	55832	broad.mit.edu;mdanderson.org	37	chr12	67675711	67675711	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttatggctacaaatgatttGatgacggaactgcagaaaga	10	5	0	5	rs79653663		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:67675711G>C	ENST00000545606.1	+	2	527	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	30					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)		CAAATGATTTGATGACGGAAC	0.274																																					p.L30F		.											.	CAND1-516	0			c.G90C						.						73	74	74					12																	67675711		2203	4300	6503	SO:0001583	missense	55832	exon2			TGATTTGATGACG		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.90G>C	12.37:g.67675711G>C	ENSP00000442318:p.Leu30Phe	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	20	8	NM_018448	0	0	0	0	0	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094499	0.76870	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.78246	-1.16;-1.16	5.87	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90010	0.6881	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90062	0.4157	9	.	.	.	-6.5455	10.7768	0.46354	0.2055:0.0:0.7945:0.0	.	30	Q86VP6	CAND1_HUMAN	F	30;30;6	ENSP00000442318:L30F;ENSP00000437594:L6F	.	L	+	3	2	CAND1	65961978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.592000	0.67543	0.405000	0.25532	-0.145000	0.13849	TTG	.		0.274	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		C	67675711	G	C	67675711	3	2	31	1	0	0	0	0	1	0	0	0	2622	1281	45	3	96	3	CAND1	12	67675711	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	837344	67675711	66176184	1627	7179											
LGR5	8549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	71972663	71972663	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttaaaattaacaggaaatCatgccttacagagcttgata	6	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:71972663C>G	ENST00000266674.5	+	15	1671	c.1360C>G	c.(1360-1362)Cat>Gat	p.H454D	LGR5_ENST00000536515.1_Missense_Mutation_p.H382D|LGR5_ENST00000540815.2_Missense_Mutation_p.H430D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	454					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACAGGAAATCATGCCTTACA	0.353																																					p.H454D		.											.	LGR5-527	0			c.C1360G						.						137	131	133					12																	71972663		2203	4300	6503	SO:0001583	missense	8549	exon15			GGAAATCATGCCT	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1360C>G	12.37:g.71972663C>G	ENSP00000266674:p.His454Asp	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	99	61	NM_003667	0	0	0	0	0	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922981	0.33908	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.53	5.84	4.93	0.64822	.	0.309664	0.28453	N	0.015295	T	0.43919	0.1269	L	0.42245	1.32	0.29075	N	0.883076	B;B	0.17465	0.008;0.022	B;B	0.22386	0.039;0.028	T	0.39961	-0.9588	10	0.36615	T	0.2	.	9.6163	0.39694	0.1426:0.7873:0.0:0.0701	.	430;454	O75473-2;O75473	.;LGR5_HUMAN	D	454;454;382;430	ENSP00000266674:H454D;ENSP00000443033:H382D;ENSP00000441035:H430D	ENSP00000266674:H454D	H	+	1	0	LGR5	70258930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	1.435000	0.47434	0.650000	0.86243	CAT	.		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		G	71972663	C	G	71972663	3	3	31	1	0	0	0	0	1	0	0	0	8786	826	29	3	1418	3	LGR5	12	71972663	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4296952	71972663	61879232	1628	7180											
LGR5	8549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	71978418	71978418	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctttaccagctccagcatCacttatgacctgcctcccag	5	17	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:71978418C>G	ENST00000266674.5	+	18	2939	c.2628C>G	c.(2626-2628)atC>atG	p.I876M	LGR5_ENST00000536515.1_Missense_Mutation_p.I804M|LGR5_ENST00000540815.2_Missense_Mutation_p.I852M|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	876					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCTCCAGCATCACTTATGACC	0.463																																					p.I876M		.											.	LGR5-527	0			c.C2628G						.						163	154	157					12																	71978418		2203	4300	6503	SO:0001583	missense	8549	exon18			CAGCATCACTTAT	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2628C>G	12.37:g.71978418C>G	ENSP00000266674:p.Ile876Met	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	82	46	NM_003667	0	0	0	0	0	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	5.516	0.280076	0.10458	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.58210	0.41;0.35;0.49	6.06	-11.0	0.00169	.	0.359927	0.27035	N	0.021242	T	0.30198	0.0757	L	0.51422	1.61	0.24316	N	0.995068	B;B	0.27117	0.168;0.059	B;B	0.20767	0.031;0.014	T	0.03534	-1.1027	10	0.33940	T	0.23	.	6.1489	0.20301	0.333:0.4553:0.135:0.0768	.	852;876	O75473-2;O75473	.;LGR5_HUMAN	M	876;804;852	ENSP00000266674:I876M;ENSP00000443033:I804M;ENSP00000441035:I852M	ENSP00000266674:I876M	I	+	3	3	LGR5	70264685	0.705000	0.27846	0.622000	0.29159	0.084000	0.17831	-0.244000	0.08903	-1.407000	0.02043	-1.312000	0.01307	ATC	.		0.463	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		G	71978418	C	G	71978418	3	3	31	1	0	0	0	0	1	0	0	0	8786	816	29	3	2698	3	LGR5	12	71978418	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5755	71978418	61873477	1629	7181											
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	72680494	72680494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagttttcgcctacacaTgccagaaaggcatttccttg	7	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:72680494T>G	ENST00000261180.4	+	2	909	c.813T>G	c.(811-813)caT>caG	p.H271Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	271					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						CGCCTACACATGCCAGAAAGG	0.353																																					p.H271Q		.											.	TRHDE-93	0			c.T813G						.						137	126	130					12																	72680494		2203	4300	6503	SO:0001583	missense	29953	exon2			TACACATGCCAGA	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.813T>G	12.37:g.72680494T>G	ENSP00000261180:p.His271Gln	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	107	67	NM_013381	0	0	0	0	0	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.24|18.24	3.579381|3.579381	0.65878|0.65878	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.04551	.|3.6	5.83|5.83	3.52|3.52	0.40303|0.40303	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.58810|0.58810	1.83|1.83	0.54753|0.54753	D|D	0.999982|0.999982	.|D	.|0.59357	.|0.985	.|P	.|0.57057	.|0.812	T|T	0.01013|0.01013	-1.1481|-1.1481	5|10	.|0.59425	.|D	.|0.04	.|.	9.7572|9.7572	0.40510|0.40510	0.0:0.1383:0.0:0.8617|0.0:0.1383:0.0:0.8617	.|.	.|271	.|Q9UKU6	.|TRHDE_HUMAN	G|Q	37|271	.|ENSP00000261180:H271Q	.|ENSP00000261180:H271Q	C|H	+|+	1|3	0|2	TRHDE|TRHDE	70966761|70966761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.811000|1.811000	0.38942|0.38942	1.045000|1.045000	0.40225|0.40225	-0.256000|-0.256000	0.11100|0.11100	TGC|CAT	.		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		G	72680494	T	G	72680494	3	3	31	1	0	0	0	0	1	0	0	0	16527	1461	51	5	819	5	TRHDE	12	72680494	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	702076	72680494	61171401	1630	7182											
SLC6A15	55117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	85255765	85255765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accagtccccatgttggataGctcagaaattcttcagatgc	8	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:85255765G>C	ENST00000266682.5	-	12	2380	c.1839C>G	c.(1837-1839)agC>agG	p.S613R	SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.S506R	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	613					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGTTGGATAGCTCAGAAATT	0.353																																					p.S613R		.											.	SLC6A15-93	0			c.C1839G						.						80	87	85					12																	85255765		2195	4295	6490	SO:0001583	missense	55117	exon12			TGGATAGCTCAGA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1839C>G	12.37:g.85255765G>C	ENSP00000266682:p.Ser613Arg	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	42	18	NM_182767	0	0	0	0	0	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005621	0.07866	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.74209	-0.82;-0.82	5.99	4.16	0.48862	.	0.338275	0.36893	N	0.002343	T	0.57066	0.2028	L	0.28776	0.89	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44298	-0.9337	10	0.13108	T	0.6	.	7.525	0.27650	0.1346:0.0:0.7295:0.1359	.	613	Q9H2J7	S6A15_HUMAN	R	613;506;91	ENSP00000266682:S613R;ENSP00000450145:S506R	ENSP00000266682:S613R	S	-	3	2	SLC6A15	83779896	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	4.353000	0.59411	0.851000	0.35264	0.655000	0.94253	AGC	.		0.353	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		C	85255765	G	C	85255765	3	2	31	1	0	0	0	0	1	0	0	0	14723	962	34	3	357	3	SLC6A15	12	85255765	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	12575271	85255765	48596130	1631	7183											
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	98940166	98940166	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagaggaaagaagagtAgaaagggatattcttaagga	12	2	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:98940166A>G	ENST00000556029.1	+	8	1376	c.1020A>G	c.(1018-1020)gtA>gtG	p.V340V	TMPO_ENST00000393053.2_Silent_p.V231V|TMPO_ENST00000343315.5_Silent_p.V300V|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	340	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					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						AAAGAAGAGTAGAAAGGGATA	0.313																																					p.V340V		.											.	TMPO-93	0			c.A1020G						.						134	135	134					12																	98940166		2203	4299	6502	SO:0001819	synonymous_variant	7112	exon8			AAGAGTAGAAAGG		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.1020A>G	12.37:g.98940166A>G		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	105	61	NM_001032283	0	0	0	0	0	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																			.		0.313	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		G	98940166	A	G	98940166	2	3	31	1	0	0	0	0	0	0	0	1	16284	407	15	4		4	TMPO	12	98940166	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	13684401	98940166	34911729	1632	7184											
SLC5A8	160728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	101603553	101603553	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtagatgccgatggcggccGagatgaccagcatgcccgcg	15	12	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:101603553G>T	ENST00000536262.2	-	1	632	c.74C>A	c.(73-75)tCg>tAg	p.S25*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATGGCGGCCGAGATGACCAG	0.687																																					p.S25X	GBM(60;420 1056 13605 22380 47675)	.											.	SLC5A8-90	0			c.C74A						.						29	28	28					12																	101603553		2202	4292	6494	SO:0001587	stop_gained	160728	exon1			GCGGCCGAGATGA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.74C>A	12.37:g.101603553G>T	ENSP00000445340:p.Ser25*	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	94	68	NM_145913	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	44	11.039042	0.99507	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4168	0.94704	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000445340:S25X	S	-	2	0	SLC5A8	100127684	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	8.004000	0.88535	2.592000	0.87571	0.561000	0.74099	TCG	.		0.687	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		T	101603553	G	T	101603553	4	4	31	1	0	0	0	0	0	1	0	0	14716	1059	37	2	1818	2	SLC5A8	12	101603553	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2663387	101603553	32248342	1633	7185											
MYBPC1	4604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	102055036	102055037	+	Missense_Mutation	DNP	CC	CC	AA													tacgacggaggctctccaatCctaggtaactgcatgttggt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:102055036_102055037CC>AA	ENST00000550270.1	+	18	1953_1954	c.1953_1954CC>AA	c.(1951-1956)atCCta>atAAta	p.L652I	MYBPC1_ENST00000441232.1_Missense_Mutation_p.L652I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L626I|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L652I|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L652I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L677I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L633I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L677I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L639I|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L553I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L640I|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L652I|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L665I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L638I|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L652I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	652	Fibronectin type-III 1. {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						GCTCTCCAATCCTAGGTAACTG	0.48																																					p.L652I		.											.	MYBPC1-94	0			c.C2029A						.																																			SO:0001583	missense	4604	exon20			CCAATCCTAGGTA		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	Exception_encountered	12.37:g.102055036_102055037delinsAA	ENSP00000449702:p.Leu652Ile	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	54	10	NM_206819	0	0	0	0	0	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	DNP	ENST00000550270.1	37	CCDS9085.1																																																																																			.		0.48	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			AA	102055037	CC	AA	102055036	3	1	31	1	0	0	0	0	1	0	0	0	10049	845	30	3	2106	3	MYBPC1	12	102055036	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	451483	102055036	31796859	1634	7186											
ALDH1L2	160428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	105424132	105424132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttagaaatgaccataataGgcccaaaggattcctctttg	7	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:105424132G>T	ENST00000258494.9	-	21	2626	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	829	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GACCATAATAGGCCCAAAGGA	0.398																																					p.P829H		.											.	ALDH1L2-91	0			c.C2486A						.						88	86	87					12																	105424132		2203	4300	6503	SO:0001583	missense	160428	exon21			ATAATAGGCCCAA	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2486C>A	12.37:g.105424132G>T	ENSP00000258494:p.Pro829His	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	84	54	NM_001034173	0	0	0	0	0	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132592	0.94473	.	.	ENSG00000136010	ENST00000258494	D	0.95412	-3.7	5.92	5.92	0.95590	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	829	Q3SY69	AL1L2_HUMAN	H	829	ENSP00000258494:P829H	ENSP00000258494:P829H	P	-	2	0	ALDH1L2	103948262	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.714000	0.98744	2.795000	0.96236	0.655000	0.94253	CCT	.		0.398	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		T	105424132	G	T	105424132	3	4	31	1	0	0	0	0	1	0	0	0	495	1000	35	3	297	3	ALDH1L2	12	105424132	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3369096	105424132	28427763	1635	7187											
BTBD11	121551	broad.mit.edu;bcgsc.ca	37	chr12	108003971	108003971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcttcccttccttagggccGacgactgcttttgtgcatct	8	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:108003971G>T	ENST00000280758.5	+	5	2176	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y	BTBD11_ENST00000357167.4_Missense_Mutation_p.D87Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.D550Y|BTBD11_ENST00000490090.2_Missense_Mutation_p.D550Y|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	550						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCTTAGGGCCGACGACTGCTT	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D550Y		.											.	BTBD11-93	0			c.G1648T						.						116	104	108					12																	108003971		2203	4300	6503	SO:0001583	missense	121551	exon5			AGGGCCGACGACT	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1648G>T	12.37:g.108003971G>T	ENSP00000280758:p.Asp550Tyr	Somatic	120	2	21	WXS	Illumina GAIIx	Phase_I	120	92	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411076	0.83340	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.54479	1.12;1.18;1.16;0.57;0.74;1.0	5.5	5.5	0.81552	.	0.044636	0.85682	D	0.000000	T	0.72293	0.3442	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.79784	0.979;0.925;0.952;0.993	T	0.72899	-0.4152	10	0.54805	T	0.06	.	19.3929	0.94592	0.0:0.0:1.0:0.0	.	550;87;550;550	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Y	550;550;550;181;184;87	ENSP00000280758:D550Y;ENSP00000413889:D550Y;ENSP00000447319:D550Y;ENSP00000447606:D181Y;ENSP00000407416:D184Y;ENSP00000349690:D87Y	ENSP00000280758:D550Y	D	+	1	0	BTBD11	106528101	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	9.808000	0.99193	2.572000	0.86782	0.462000	0.41574	GAC	.		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	108003971	G	T	108003971	3	4	31	1	0	0	0	0	1	0	0	0	1543	1058	37	2	1771	2	BTBD11	12	108003971	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2579839	108003971	25847924	1636	7188											
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	110231758	110231758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagaagaacaggacccCagtgaagagcgtaatgacct	13	8	0	6			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:110231758C>A	ENST00000418703.2	-	8	1655	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	TRPV4_ENST00000392719.2_Missense_Mutation_p.G474W|TRPV4_ENST00000541794.1_Missense_Mutation_p.G474W|TRPV4_ENST00000346520.2_Missense_Mutation_p.G461W|TRPV4_ENST00000537083.1_Missense_Mutation_p.G461W|TRPV4_ENST00000544971.1_Missense_Mutation_p.G414W|TRPV4_ENST00000536838.1_Missense_Mutation_p.G487W|TRPV4_ENST00000261740.2_Missense_Mutation_p.G521W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	521					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						AACAGGACCCCAGTGAAGAGC	0.622																																					p.G521W		.											.	TRPV4-94	0			c.G1561T						.						46	36	40					12																	110231758		2203	4300	6503	SO:0001583	missense	59341	exon9			GGACCCCAGTGAA	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.1561G>T	12.37:g.110231758C>A	ENSP00000406191:p.Gly521Trp	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	241	182	NM_021625	0	0	0	0	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623431	0.66901	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.85373	2.75	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;0.999;1.0	D	0.97411	1.0002	10	0.66056	D	0.02	3.1814	16.0526	0.80774	0.0:1.0:0.0:0.0	.	461;521;414;474;487	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	521;521;474;461;414;461;474;487	ENSP00000406191:G521W;ENSP00000261740:G521W;ENSP00000376480:G474W;ENSP00000319003:G461W;ENSP00000443611:G414W;ENSP00000442738:G461W;ENSP00000442167:G474W;ENSP00000444336:G487W	ENSP00000261740:G521W	G	-	1	0	TRPV4	108716141	0.980000	0.34600	0.648000	0.29521	0.542000	0.35054	4.942000	0.63547	2.247000	0.74100	0.462000	0.41574	GGG	.		0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110231758	C	A	110231758	3	1	31	1	0	0	0	0	1	0	0	0	16646	594	21	3	1086	3	TRPV4	12	110231758	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2227787	110231758	23620137	1637	7189											
PPP1CC	5501	bcgsc.ca	37	chr12	111160003	111160003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcattgtcaaactctccGcaataattgggcgcagaaaa	8	11	2	1	rs1973505	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:111160003G>A	ENST00000335007.5	-	6	1009	c.819C>T	c.(817-819)tgC>tgT	p.C273C	PPP1CC_ENST00000551676.1_3'UTR|PPP1CC_ENST00000546933.1_Silent_p.C282C|PPP1CC_ENST00000550991.1_Silent_p.C273C|PPP1CC_ENST00000340766.5_Silent_p.C273C	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	273		Inhibition by microcystin toxin binding.			cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CAAACTCTCCGCAATAATTGG	0.368													A|||	1176	0.234824	0.5303	0.121	5008	,	,		19020	0.0635		0.164	False		,,,				2504	0.1656				p.C273C		.											.	PPP1CC-1082	0			c.C819T						.	A		2158,2248	595.9+/-388.5	534,1090,579	109	104	105		819	4.6	1	12	dbSNP_92	105	1182,7418	764.6+/-407.6	84,1014,3202	no	coding-synonymous	PPP1CC	NM_002710.3		618,2104,3781	AA,AG,GG		13.7442,48.9787,25.6805		273/324	111160003	3340,9666	2203	4300	6503	SO:0001819	synonymous_variant	5501	exon6			CTCTCCGCAATAA		CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9283	protein-coding gene	gene with protein product		176914	"protein phosphatase 1, catalytic subunit, gamma isoform"				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.819C>T	12.37:g.111160003G>A		Somatic	148	2		WXS	Illumina GAIIx	Phase_I	129	8	NM_002710	0	0	0	0	0		Silent	SNP	ENST00000335007.5	37	CCDS9150.1																																																																																			G|0.770;A|0.230		0.368	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1			A	111160003	G	A	111160003	2	1	31	1	0	0	0	0	0	0	0	1	12393	1079	38	1		1	PPP1CC	12	111160003	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	928245	111160003	22691892	1638	7190											
ACAD10	80724	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112130583	112130583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagccttcctgaaacacAcccagcgcaggcaccagggg	11	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:112130583A>C	ENST00000313698.4	+	2	225	c.70A>C	c.(70-72)Acc>Ccc	p.T24P	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.T24P|ACAD10_ENST00000549590.1_Missense_Mutation_p.T24P	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	24						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGAAACACACCCAGCGCAG	0.592																																					p.T24P		.											.	ACAD10-92	0			c.A70C						.						136	116	123					12																	112130583		2203	4300	6503	SO:0001583	missense	80724	exon2			AAACACACCCAGC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.70A>C	12.37:g.112130583A>C	ENSP00000325137:p.Thr24Pro	Somatic	96	2		WXS	Illumina GAIIx	Phase_I	124	77	NM_001136538	0	0	0	0	0	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654170	0.29425	.	.	ENSG00000111271	ENST00000514615;ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;D;D	0.95001	3.27;-3.58;-3.57	4.94	-8.41	0.00961	.	2.651740	0.01089	N	0.005154	D	0.85835	0.5789	N	0.12182	0.205	0.09310	N	0.999998	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001	T	0.76675	-0.2872	10	0.34782	T	0.22	.	8.0135	0.30368	0.2642:0.2534:0.4823:0.0	.	24;24;24;24;24	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	P	24	ENSP00000446959:T24P;ENSP00000389813:T24P;ENSP00000325137:T24P	ENSP00000325137:T24P	T	+	1	0	ACAD10	110614966	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.680000	0.01939	-1.460000	0.01911	-0.456000	0.05471	ACC	.		0.592	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		C	112130583	A	C	112130583	3	2	31	1	0	0	0	0	1	0	0	0	108	159	6	5	72	5	ACAD10	12	112130583	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	970580	112130583	21721312	1639	7191											
C12orf51	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112701980	112701980	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttactgagaaggtgattctGaactgccatcagatagcgca	11	8	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:112701980G>C	ENST00000430131.2	-	16	2505	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.Q704E|HECTD4_ENST00000550722.1_Missense_Mutation_p.Q742E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	454					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)										AGGTGATTCTGAACTGCCATC	0.413																																					p.Q742E		.											.	.	0			c.C2224G						.						97	77	84					12																	112701980		2203	4300	6503	SO:0001583	missense	283450	exon17			GATTCTGAACTGC	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.1360C>G	12.37:g.112701980G>C	ENSP00000404379:p.Gln454Glu	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	103	21	NM_001109662	0	0	0	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980253	0.74474	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45276	0.9;0.9;0.9	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	N	0.14661	0.345	0.48571	D	0.999679	P;P;P	0.43578	0.811;0.713;0.811	P;P;P	0.54924	0.764;0.68;0.764	T	0.51317	-0.8721	10	0.72032	D	0.01	.	19.7012	0.96054	0.0:0.0:1.0:0.0	.	454;454;454	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	E	704;454;742	ENSP00000366783:Q704E;ENSP00000404379:Q454E;ENSP00000449784:Q742E	ENSP00000366783:Q704E	Q	-	1	0	C12orf51	111186363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.637000	0.89404	0.563000	0.77884	CAG	.		0.413	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112701980	G	C	112701980	3	2	31	1	0	0	0	0	1	0	0	0	1701	1299	45	3	10870	3	C12orf51	12	112701980	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	571397	112701980	21149915	1640	7192											
RPH3A	22895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113304642	113304642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctgcattgagcagagGgaggtgagtgccctggtccc	14	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:113304642G>A	ENST00000389385.4	+	7	938	c.441G>A	c.(439-441)agG>agA	p.R147R	RPH3A_ENST00000447659.2_Silent_p.R98R|RPH3A_ENST00000548866.1_Silent_p.R98R|RPH3A_ENST00000415485.3_Silent_p.R147R|RPH3A_ENST00000543106.2_Silent_p.R147R|RPH3A_ENST00000420983.2_Silent_p.R147R|RPH3A_ENST00000551052.1_Silent_p.R143R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	147	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		TTGAGCAGAGGGAGGTGAGTG	0.542																																					p.R147R		.											.	RPH3A-519	0			c.G441A						.						119	93	102					12																	113304642		2203	4300	6503	SO:0001819	synonymous_variant	22895	exon7			GCAGAGGGAGGTG	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.441G>A	12.37:g.113304642G>A		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	133	88	NM_001143854	0	0	0	0	0	B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	CCDS44979.1																																																																																			.		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113304642	G	A	113304642	2	1	31	1	0	0	0	0	0	0	0	1	13596	1223	43	3		3	RPH3A	12	113304642	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	602662	113304642	20547253	1641	7193											
TBX5	6910	ucsc.edu;bcgsc.ca	37	chr12	114793514	114793514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacaggctggtgggccacGgaggtctggtgctggaacat	16	10	1	0	rs575162861		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:114793514G>T	ENST00000310346.4	-	9	2046	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	TBX5_ENST00000349716.5_Silent_p.S410S|TBX5_ENST00000405440.2_Silent_p.S460S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	460				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTGGGCCACGGAGGTCTGGT	0.667																																					p.S460S	NSCLC(152;1358 1980 4050 23898 40356)	.											.	TBX5-98	0			c.C1380A						.						26	29	28					12																	114793514		2203	4300	6503	SO:0001819	synonymous_variant	6910	exon9			GGCCACGGAGGTC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1380C>A	12.37:g.114793514G>T		Somatic	163	2		WXS	Illumina GAIIx	Phase_I	172	114	NM_000192	0	0	0	0	0	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																			.		0.667	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114793514	G	T	114793514	2	4	31	1	0	0	0	0	0	0	0	1	15708	1103	39	2		2	TBX5	12	114793514	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1488872	114793514	19058381	1642	7194											
TBX3	6926	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	115112157	115112157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctggagaaggcgcccCccatggcaaactggctgggg	15	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:115112157C>G	ENST00000257566.3	-	7	1972	c.1583G>C	c.(1582-1584)gGg>gCg	p.G528A	TBX3_ENST00000349155.2_Missense_Mutation_p.G508A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	528					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)		GAAGGCGCCCCCCATGGCAAA	0.711																																					p.G528A		.											.	TBX3-93	0			c.G1583C						.						5	7	6					12																	115112157		2063	4093	6156	SO:0001583	missense	6926	exon7			GCGCCCCCCATGG	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.1583G>C	12.37:g.115112157C>G	ENSP00000257566:p.Gly528Ala	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	103	49	NM_016569	0	0	0	0	0	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294279	0.81025	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87491	-2.26;-2.24	5.06	5.06	0.68205	.	0.261063	0.43919	N	0.000502	D	0.91503	0.7317	L	0.54908	1.71	0.80722	D	1	P;D	0.76494	0.692;0.999	B;D	0.81914	0.325;0.995	D	0.90222	0.4272	10	0.33141	T	0.24	.	17.4208	0.87514	0.0:1.0:0.0:0.0	.	508;528	O15119-2;O15119	.;TBX3_HUMAN	A	508;528	ENSP00000257567:G508A;ENSP00000257566:G528A	ENSP00000257566:G528A	G	-	2	0	TBX3	113596540	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	3.659000	0.54489	2.335000	0.79485	0.655000	0.94253	GGG	.		0.711	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		G	115112157	C	G	115112157	3	3	31	1	0	0	0	0	1	0	0	0	15706	623	22	3	656	3	TBX3	12	115112157	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	318643	115112157	18739738	1643	7195											
MED13L	23389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	116444164	116444165	+	Frame_Shift_Ins	INS	-	-	C													atttttcccatcaggcaccgINSgcgtggaatgacctggtgta					rs376297513		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:116444164_116444165insC	ENST00000281928.3	-	12	2496_2497	c.2290_2291insG	c.(2290-2292)ccgfs	p.P764fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	764						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)		ATCAGGCACCGGCGTGGAATGA	0.406																																					p.P764fs		.											.	MED13L-232	0			c.2291_2292insG						.																																			SO:0001589	frameshift_variant	23389	exon12			GGCACCGGCGTGG	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.2290_2291insG	12.37:g.116444164_116444165insC	ENSP00000281928:p.Pro764fs	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	127	77	NM_015335	0	0	0	0	0	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Ins	INS	ENST00000281928.3	37	CCDS9177.1																																																																																			.		0.406	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			C	116444165	-	C	116444164	7	5	31	1	0	1	1	0	0	0	0	0	9469	1116	39	0	4421	0	MED13L	12	116444164	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	1332007	116444164	17407731	1644	7196											
RNFT2	84900	bcgsc.ca	37	chr12	117274029	117274029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgcacagaagctgGtgacatctgcgccatctgtc	12	12	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:117274029G>T	ENST00000257575.4	+	10	1375	c.1142G>T	c.(1141-1143)gGt>gTt	p.G381V	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Missense_Mutation_p.G381V|RNFT2_ENST00000551251.1_3'UTR|RNFT2_ENST00000392549.2_Missense_Mutation_p.G381V			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	381						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACAGAAGCTGGTGACATCTGC	0.607																																					p.G381V		.											.	.	0			c.G1142T						.						39	33	35					12																	117274029		2203	4299	6502	SO:0001583	missense	84900	exon10			AAGCTGGTGACAT	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1142G>T	12.37:g.117274029G>T	ENSP00000257575:p.Gly381Val	Somatic	78	2		WXS	Illumina GAIIx	Phase_I	69	51	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919090	0.73098	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.69435	-0.4;-0.4	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84279	0.0493	10	0.87932	D	0	-20.7396	19.3302	0.94283	0.0:0.0:1.0:0.0	.	381;381	Q96EX2;E9PAM7	RNFT2_HUMAN;.	V	381	ENSP00000257575:G381V;ENSP00000376332:G381V	ENSP00000257575:G381V	G	+	2	0	RNFT2	115758412	1.000000	0.71417	0.274000	0.24659	0.402000	0.30811	9.404000	0.97306	2.572000	0.86782	0.591000	0.81541	GGT	.		0.607	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		T	117274029	G	T	117274029	3	4	31	1	0	0	0	0	1	0	0	0	13547	1261	44	3	1176	3	RNFT2	12	117274029	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	829865	117274029	16577866	1645	7197											
NOS1	4842	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	117768276	117768276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagttcattgttctccCctctgccttggaggctgact	10	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:117768276C>A	ENST00000338101.4	-	1	603	c.599G>T	c.(598-600)gGg>gTg	p.G200V	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.G200V|NOS1_ENST00000344089.3_Missense_Mutation_p.G200V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				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)		ATTGTTCTCCCCTCTGCCTTG	0.637																																					p.G200V	Esophageal Squamous(162;1748 2599 51982 52956)	.											.	NOS1-154	0			c.G599T						.						119	127	124					12																	117768276		2045	4205	6250	SO:0001583	missense	4842	exon2			TTCTCCCCTCTGC		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.599G>T	12.37:g.117768276C>A	ENSP00000337459:p.Gly200Val	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	91	49	NM_000620	0	0	0	0	0		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509970	0.44660	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05319	5.05;3.46;5.06	4.4	1.59	0.23543	.	0.497511	0.23123	N	0.051668	T	0.04907	0.0132	L	0.41236	1.265	0.42035	D	0.991046	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.36615	T	0.2	-4.6983	3.7164	0.08439	0.2075:0.4265:0.0:0.366	.	200	P29475	NOS1_HUMAN	V	200	ENSP00000320758:G200V;ENSP00000339862:G200V;ENSP00000337459:G200V	ENSP00000320758:G200V	G	-	2	0	NOS1	116252659	0.877000	0.30153	0.001000	0.08648	0.908000	0.53690	1.757000	0.38400	0.140000	0.18849	0.484000	0.47621	GGG	.		0.637	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117768276	C	A	117768276	3	1	31	1	0	0	0	0	1	0	0	0	10580	623	22	3	3817	3	NOS1	12	117768276	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	494247	117768276	16083619	1646	7198											
SUDS3	64426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	118841234	118841234	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcatctccatcctctcctGagcacttgcctgcaacaccc	5	19	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:118841234G>T	ENST00000543473.1	+	10	1027	c.715G>T	c.(715-717)Gag>Tag	p.E239*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.E240*|SUDS3_ENST00000541280.1_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	239					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCTCTCCTGAGCACTTGCC	0.453																																					p.E239X		.											.	SUDS3-90	0			c.G715T						.						53	52	52					12																	118841234		2004	4185	6189	SO:0001587	stop_gained	64426	exon10			TCTCCTGAGCACT	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.715G>T	12.37:g.118841234G>T	ENSP00000443988:p.Glu239*	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	50	34	NM_022491	0	0	0	0	0	Q4KMQ5|Q8N6H0|Q9H8D2	Nonsense_Mutation	SNP	ENST00000543473.1	37	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	40	7.982561	0.98594	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-14.2541	18.5243	0.90965	0.0:0.0:1.0:0.0	.	.	.	.	X	239;240	.	ENSP00000380695:E240X	E	+	1	0	SUDS3	117325617	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.502000	0.90505	2.691000	0.91804	0.655000	0.94253	GAG	.		0.453	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		T	118841234	G	T	118841234	4	4	31	1	0	0	0	0	0	1	0	0	15414	1291	45	3	753	3	SUDS3	12	118841234	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1072958	118841234	15010661	1647	7199											
SRRM4	84530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	119594333	119594333	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatcccctactatcggccCagcccctcctcatccggcag	6	22	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:119594333C>A	ENST00000267260.4	+	13	1954	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	522	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACTATCGGCCCAGCCCCTCCT	0.697																																					p.P522P		.											.	SRRM4-2	0			c.C1566A						.						19	25	23					12																	119594333		2023	4169	6192	SO:0001819	synonymous_variant	84530	exon13			TCGGCCCAGCCCC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1566C>A	12.37:g.119594333C>A		Somatic	176	1		WXS	Illumina GAIIx	Phase_I	205	119	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	CCDS44994.1																																																																																			.		0.697	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119594333	C	A	119594333	2	1	31	1	0	0	0	0	0	0	0	1	15218	581	21	3		3	SRRM4	12	119594333	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	753099	119594333	14257562	1648	7200											
CCDC60	160777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	119926594	119926594	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccgccagctctgtgctctCcactggcttctggaggccct	10	16	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:119926594C>A	ENST00000327554.2	+	5	945	c.480C>A	c.(478-480)ctC>ctA	p.L160L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	160										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCTGTGCTCTCCACTGGCTTC	0.537																																					p.L160L		.											.	CCDC60-93	0			c.C480A						.						140	122	128					12																	119926594		2203	4300	6503	SO:0001819	synonymous_variant	160777	exon5			TGCTCTCCACTGG	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.480C>A	12.37:g.119926594C>A		Somatic	236	0		WXS	Illumina GAIIx	Phase_I	300	218	NM_178499	0	0	0	0	0		Silent	SNP	ENST00000327554.2	37	CCDS9190.1																																																																																			.		0.537	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		A	119926594	C	A	119926594	2	1	31	1	0	0	0	0	0	0	0	1	2838	842	30	3		3	CCDC60	12	119926594	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	332261	119926594	13925301	1649	7201											
WDR66	144406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	122413555	122413555	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtcagagcttccttttgtCatgagagcaattggctttta	9	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:122413555C>T	ENST00000288912.4	+	19	3824	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	990							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TTCCTTTTGTCATGAGAGCAA	0.443																																					p.V990V	Esophageal Squamous(85;849 1794 49757 52143)	.											.	WDR66-92	0			c.C2970T						.						124	115	118					12																	122413555		1921	4151	6072	SO:0001819	synonymous_variant	144406	exon19			TTTTGTCATGAGA	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2970C>T	12.37:g.122413555C>T		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	160	32	NM_144668	0	0	0	0	0	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																			.		0.443	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		T	122413555	C	T	122413555	2	4	31	1	0	0	0	0	0	0	0	1	17366	813	29	3		3	WDR66	12	122413555	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2486961	122413555	11438340	1650	7202											
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	124335466	124335466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatttccctggactcccGcatgggcatcttcatcacca	9	14	3	1	rs370827875		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:124335466G>T	ENST00000409039.3	+	34	5805	c.5780G>T	c.(5779-5781)cGc>cTc	p.R1927L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622																																					p.R1927L		.											.	DNAH10-95	0			c.G5780T						.						37	41	40					12																	124335466		2141	4269	6410	SO:0001583	missense	196385	exon34			ACTCCCGCATGGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5780G>T	12.37:g.124335466G>T	ENSP00000386770:p.Arg1927Leu	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	98	74	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593096	0.66219	.	.	ENSG00000197653	ENST00000409039	T	0.41065	1.01	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.55513	0.1925	L	0.43923	1.385	0.54753	D	0.999989	D	0.57257	0.979	P	0.59948	0.866	T	0.51450	-0.8704	10	0.44086	T	0.13	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	L	1927	ENSP00000386770:R1927L	ENSP00000386770:R1927L	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC	.		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124335466	G	T	124335466	3	4	31	1	0	0	0	0	1	0	0	0	4612	1087	38	2	5914	2	DNAH10	12	124335466	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1921911	124335466	9516429	1651	7203											
TMEM132B	114795	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	126135311	126135311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaccagcacgccacagtgCgtgtcctcacccagtttgtg	10	14	1	0	rs371149663		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:126135311C>A	ENST00000299308.3	+	7	1719	c.1711C>A	c.(1711-1713)Cgt>Agt	p.R571S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R83S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	571						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGCCACAGTGCGTGTCCTCAC	0.597																																					p.R571S		.											.	TMEM132B-185	0			c.C1711A						.						73	83	79					12																	126135311		2186	4290	6476	SO:0001583	missense	114795	exon7			ACAGTGCGTGTCC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1711C>A	12.37:g.126135311C>A	ENSP00000299308:p.Arg571Ser	Somatic	241	2		WXS	Illumina GAIIx	Phase_I	257	182	NM_052907	0	0	0	0	0	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347084	0.61183	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.54479	0.57;0.57	5.14	4.25	0.50352	.	0.098253	0.45606	D	0.000346	T	0.53738	0.1815	M	0.76574	2.34	0.58432	D	0.999991	P	0.36438	0.553	B	0.38985	0.287	T	0.56019	-0.8048	10	0.51188	T	0.08	.	9.9898	0.41863	0.1374:0.7894:0.0:0.0732	.	571	Q14DG7	T132B_HUMAN	S	571;83	ENSP00000299308:R571S;ENSP00000440436:R83S	ENSP00000299308:R571S	R	+	1	0	TMEM132B	124701264	1.000000	0.71417	0.593000	0.28771	0.615000	0.37417	3.193000	0.50997	1.139000	0.42245	0.650000	0.86243	CGT	.		0.597	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		A	126135311	C	A	126135311	3	1	31	1	0	0	0	0	1	0	0	0	16093	768	27	2	1737	2	TMEM132B	12	126135311	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1799845	126135311	7716584	1652	7204											
POLE	5426	bcgsc.ca	37	chr12	133252041	133252041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccccctggctgtccttcTggaagcctatctcctgctgc	8	17	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:133252041T>C	ENST00000320574.5	-	12	1212	c.1169A>G	c.(1168-1170)cAg>cGg	p.Q390R	POLE_ENST00000535270.1_Missense_Mutation_p.Q363R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	390					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)	GCTGTCCTTCTGGAAGCCTAT	0.612								DNA polymerases (catalytic subunits)																													p.Q390R		.											.	POLE-233	0			c.A1169G						.						108	94	98					12																	133252041		2203	4300	6503	SO:0001583	missense	5426	exon12			TCCTTCTGGAAGC		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.1169A>G	12.37:g.133252041T>C	ENSP00000322570:p.Gln390Arg	Somatic	79	3		WXS	Illumina GAIIx	Phase_I	89	56	NM_006231	0	0	0	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540117	0.45176	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T;T	0.08984	3.05;3.05;3.05;3.05;3.03	5.91	5.91	0.95273	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.12746	0.255	0.58432	D	0.999998	B;B	0.17268	0.021;0.004	B;B	0.17098	0.01;0.017	T	0.43426	-0.9392	10	0.13853	T	0.58	.	16.3426	0.83092	0.0:0.0:0.0:1.0	.	363;390	F5H1D6;Q07864	.;DPOE1_HUMAN	R	390;401;363;170;325;8	ENSP00000322570:Q390R;ENSP00000406383:Q401R;ENSP00000445753:Q363R;ENSP00000442519:Q170R;ENSP00000443213:Q8R	ENSP00000322570:Q390R	Q	-	2	0	POLE	131762114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	2.263000	0.75096	0.379000	0.24179	CAG	.		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		C	133252041	T	C	133252041	3	2	31	1	0	0	0	0	1	0	0	0	12235	1580	55	4	5843	4	POLE	12	133252041	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	7116730	133252041	599854	1653	7205											
RNF17	56163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	25363494	25363494	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttaaattctagattatccgGactttgcagttaacttcaga	6	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:25363494G>T	ENST00000255324.5	+	8	844	c.792G>T	c.(790-792)cgG>cgT	p.R264R	RNF17_ENST00000381921.1_Silent_p.R264R|RNF17_ENST00000255325.6_Silent_p.R264R|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	264					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATTATCCGGACTTTGCAGT	0.338																																					p.R264R		.											.	RNF17-228	0			c.G792T						.						109	121	117					13																	25363494		2203	4296	6499	SO:0001819	synonymous_variant	56163	exon8			TATCCGGACTTTG	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.792G>T	13.37:g.25363494G>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	61	21	NM_001184993	0	0	0	0	0	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																			.		0.338	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25363494	G	T	25363494	2	4	31	1	0	0	0	0	0	0	0	1	13506	1161	41	3		3	RNF17	13	25363494	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		25363494	89806384	1654	7206											
CDK8	1024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	26923272	26923272	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtgtttctgtctcatgctGataggaaggtgtggcttctg	14	6	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:26923272G>T	ENST00000381527.3	+	3	771	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	CDK8_ENST00000536792.1_Missense_Mutation_p.D90Y	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCTCATGCTGATAGGAAGGT	0.418																																					p.D90Y		.											.	CDK8-1023	0			c.G268T						.						234	211	219					13																	26923272		2203	4300	6503	SO:0001583	missense	1024	exon3			CATGCTGATAGGA	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.268G>T	13.37:g.26923272G>T	ENSP00000370938:p.Asp90Tyr	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	93	33	NM_001260	0	0	0	0	0	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355119	0.82243	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66815	-0.23;-0.23	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	L	0.52364	1.645	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.62089	0.837;0.898	T	0.79778	-0.1660	10	0.87932	D	0	-15.2132	18.2519	0.90006	0.0:0.0:1.0:0.0	.	90;90	P49336-2;P49336	.;CDK8_HUMAN	Y	90	ENSP00000370938:D90Y;ENSP00000437696:D90Y	ENSP00000370938:D90Y	D	+	1	0	CDK8	25821272	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	GAT	.		0.418	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			T	26923272	G	T	26923272	3	4	31	1	0	0	0	0	1	0	0	0	3157	1290	45	3	278	3	CDK8	13	26923272	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1559778	26923272	88246606	1655	7207											
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	29599201	29599201	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaggcacagatagcctgcaGaccacgcggagtattcaggg	14	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29599201G>T	ENST00000431530.3	+	1	454	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	122						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						ATAGCCTGCAGACCACGCGGA	0.502																																					p.Q132H		.											.	MTUS2-218	0			c.G396T						.						98	99	98					13																	29599201		2059	4203	6262	SO:0001583	missense	23281	exon1			CCTGCAGACCACG	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.396G>T	13.37:g.29599201G>T	ENSP00000392057:p.Gln132His	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	86	34	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.94	2.388359	0.42308	.	.	ENSG00000132938	ENST00000431530	T	0.13657	2.57	4.99	3.15	0.36227	.	0.652521	0.13573	N	0.377913	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.26985	-1.0087	9	.	.	.	.	2.5981	0.04859	0.1588:0.147:0.5219:0.1723	.	122	Q5JR59	MTUS2_HUMAN	H	132	ENSP00000392057:Q132H	.	Q	+	3	2	MTUS2	28497201	0.226000	0.23696	0.022000	0.16811	0.006000	0.05464	1.681000	0.37618	1.170000	0.42753	0.655000	0.94253	CAG	.		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599201	G	T	29599201	3	4	31	1	0	0	0	0	1	0	0	0	10004	933	33	3	398	3	MTUS2	13	29599201	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2675929	29599201	85570677	1656	7208											
MTUS2	23281	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	29599429	29599429	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcatccacagcctctAtccctcgactcccgggaagc	8	19	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29599429A>G	ENST00000431530.3	+	1	682	c.624A>G	c.(622-624)ctA>ctG	p.L208L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	198						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						CACAGCCTCTATCCCTCGACT	0.597																																					p.L208L		.											.	MTUS2-218	0			c.A624G						.						35	40	38					13																	29599429		2157	4259	6416	SO:0001819	synonymous_variant	23281	exon1			GCCTCTATCCCTC	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.624A>G	13.37:g.29599429A>G		Somatic	96	1		WXS	Illumina GAIIx	Phase_I	59	26	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																			.		0.597	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		G	29599429	A	G	29599429	2	3	31	1	0	0	0	0	0	0	0	1	10004	436	16	4		4	MTUS2	13	29599429	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	228	29599429	85570449	1657	7209											
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	29600623	29600623	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagaacacttgccccagtggGatccccaagcctgtcttcac	8	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29600623G>T	ENST00000431530.3	+	1	1876	c.1818G>T	c.(1816-1818)ggG>ggT	p.G606G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	596						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						GCCCCAGTGGGATCCCCAAGC	0.532																																					p.G606G		.											.	MTUS2-218	0			c.G1818T						.						50	54	53					13																	29600623		1946	4137	6083	SO:0001819	synonymous_variant	23281	exon1			CAGTGGGATCCCC	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.1818G>T	13.37:g.29600623G>T		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	74	23	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																			.		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29600623	G	T	29600623	2	4	31	1	0	0	0	0	0	0	0	1	10004	1161	41	3		3	MTUS2	13	29600623	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1194	29600623	85569255	1658	7210											
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	30054476	30054476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtgaccagctgctgaGcatccggtgtcaacaccagg	13	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:30054476G>C	ENST00000380808.2	+	3	527	c.311G>C	c.(310-312)aGc>aCc	p.S104T	MTUS2_ENST00000542829.1_Missense_Mutation_p.S14T|MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.S1135T	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1125						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						CAGCTGCTGAGCATCCGGTGT	0.657																																					p.S1135T		.											.	MTUS2-218	0			c.G3404C						.						10	14	13					13																	30054476		2070	4197	6267	SO:0001583	missense	23281	exon8			TGCTGAGCATCCG	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.311G>C	13.37:g.30054476G>C	ENSP00000370186:p.Ser104Thr	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	112	40	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721991	0.30503	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.22134	2.75;2.26;1.97	4.88	3.15	0.36227	.	0.314890	0.38326	N	0.001738	T	0.11922	0.0290	N	0.22421	0.69	0.09310	N	1	B;B	0.26845	0.006;0.161	B;B	0.28638	0.025;0.092	T	0.25257	-1.0137	9	.	.	.	.	5.6542	0.17633	0.1727:0.0:0.6685:0.1587	.	104;1125	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	T	1135;104;14;61	ENSP00000392057:S1135T;ENSP00000370186:S104T;ENSP00000445403:S14T	.	S	+	2	0	MTUS2	28952476	0.022000	0.18835	0.326000	0.25389	0.823000	0.46562	0.786000	0.26844	0.668000	0.31126	0.555000	0.69702	AGC	.		0.657	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		C	30054476	G	C	30054476	3	2	31	1	0	0	0	0	1	0	0	0	10004	971	34	3	3492	3	MTUS2	13	30054476	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	453853	30054476	85115402	1659	7211											
DCLK1	9201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	36699966	36699966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagattgttctcactccCtggggcaaattcacgttatc	9	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:36699966C>A	ENST00000360631.3	-	2	520	c.309G>T	c.(307-309)caG>caT	p.Q103H	DCLK1_ENST00000379892.4_Missense_Mutation_p.Q103H|DCLK1_ENST00000255448.4_Missense_Mutation_p.Q103H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	103	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCTCACTCCCTGGGGCAAAT	0.532																																					p.Q103H		.											.	DCLK1-826	0			c.G309T						.						96	91	93					13																	36699966		2203	4300	6503	SO:0001583	missense	9201	exon2			CACTCCCTGGGGC	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.309G>T	13.37:g.36699966C>A	ENSP00000353846:p.Gln103His	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	111	31	NM_004734	0	0	0	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	18.72	3.684356	0.68157	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.92446	-3.04;-3.04;-3.04	5.72	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94440	0.7657	10	0.45353	T	0.12	.	14.571	0.68210	0.0:0.9299:0.0:0.0701	.	103	O15075-2	.	H	103	ENSP00000255448:Q103H;ENSP00000353846:Q103H;ENSP00000369222:Q103H	ENSP00000255448:Q103H	Q	-	3	2	DCLK1	35597966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.826000	0.62715	1.408000	0.46895	0.655000	0.94253	CAG	.		0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		A	36699966	C	A	36699966	3	1	31	1	0	0	0	0	1	0	0	0	4300	680	24	3	1948	3	DCLK1	13	36699966	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6645490	36699966	78469912	1660	7212											
SMAD9	4093	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	37427574	37427574	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttaacaaaactcatccgGatagtacacatcttggtcag	6	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:37427574G>A	ENST00000399275.2	-	5	1381	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	SMAD9_ENST00000379826.4_Silent_p.I414I|SMAD9_ENST00000350148.5_Silent_p.I377I			O15198	SMAD9_HUMAN	SMAD family member 9	414	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AACTCATCCGGATAGTACACA	0.458																																					p.I414I		.											.	SMAD9-414	0			c.C1242T						.						85	78	80					13																	37427574		2203	4300	6503	SO:0001819	synonymous_variant	4093	exon6			CATCCGGATAGTA		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1242C>T	13.37:g.37427574G>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	45	12	NM_001127217	0	0	0	0	0	A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	CCDS45032.1																																																																																			.		0.458	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		A	37427574	G	A	37427574	2	1	31	1	0	0	0	0	0	0	0	1	14809	1164	41	3		3	SMAD9	13	37427574	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	727608	37427574	77742304	1661	7213											
EXOSC8	11340	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	37582275	37582275	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaagttatttgaatattaGaactcatccagttgcaactt	6	6	1	2	rs200992929		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:37582275G>T	ENST00000389704.3	+	9	834	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	190					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TTGAATATTAGAACTCATCCA	0.284																																					p.R190I		.											.	EXOSC8-91	0			c.G569T						.						48	55	52					13																	37582275		2202	4282	6484	SO:0001583	missense	11340	exon9			ATATTAGAACTCA	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.569G>T	13.37:g.37582275G>T	ENSP00000374354:p.Arg190Ile	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	45	6	NM_181503	0	0	0	0	0	O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999229	0.35226	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.47177	0.85	5.53	3.8	0.43715	Exoribonuclease, phosphorolytic domain 2 (1);	0.567130	0.21503	N	0.073498	T	0.44540	0.1298	M	0.74467	2.265	0.49483	D	0.999798	B;B	0.14805	0.011;0.002	B;B	0.10450	0.005;0.001	T	0.31475	-0.9942	10	0.33940	T	0.23	-4.0867	6.9305	0.24439	0.1443:0.0:0.7152:0.1405	.	162;190	Q5JXM0;Q96B26	.;EXOS8_HUMAN	I	190;162	ENSP00000374354:R190I	ENSP00000369137:R162I	R	+	2	0	EXOSC8	36480275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.095000	0.41729	0.710000	0.31997	0.655000	0.94253	AGA	G|1.000;A|0.000		0.284	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		T	37582275	G	T	37582275	3	4	31	1	0	0	0	0	1	0	0	0	5336	942	33	3	603	3	EXOSC8	13	37582275	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	154701	37582275	77587603	1662	7214											
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	39264618	39264618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaagaatggagaattgGtggcaatactatccaaggag	12	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:39264618G>T	ENST00000280481.7	+	1	3353	c.3137G>T	c.(3136-3138)gGt>gTt	p.G1046V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1046					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)		TGGAGAATTGGTGGCAATACT	0.433																																					p.G1046V		.											.	FREM2-100	0			c.G3137T						.						123	124	123					13																	39264618		2203	4300	6503	SO:0001583	missense	341640	exon1			GAATTGGTGGCAA	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.3137G>T	13.37:g.39264618G>T	ENSP00000280481:p.Gly1046Val	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	53	21	NM_207361	0	0	0	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315398	0.40996	.	.	ENSG00000150893	ENST00000280481	T	0.53857	0.6	5.79	5.79	0.91817	.	0.385909	0.31156	N	0.008155	T	0.72748	0.3499	M	0.92219	3.285	0.80722	D	1	P	0.49862	0.929	P	0.48901	0.594	T	0.80284	-0.1447	10	0.87932	D	0	.	20.0413	0.97592	0.0:0.0:1.0:0.0	.	1046	Q5SZK8	FREM2_HUMAN	V	1046	ENSP00000280481:G1046V	ENSP00000280481:G1046V	G	+	2	0	FREM2	38162618	1.000000	0.71417	0.062000	0.19696	0.126000	0.20510	9.864000	0.99589	2.751000	0.94390	0.650000	0.86243	GGT	.		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39264618	G	T	39264618	3	4	31	1	0	0	0	0	1	0	0	0	6069	1261	44	3	3139	3	FREM2	13	39264618	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1682343	39264618	75905260	1663	7215											
NAA16	79612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	41932560	41932560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattaatgctgcaattgctaGtactccaactctaatagaat	5	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:41932560G>T	ENST00000379406.3	+	11	1532	c.1208G>T	c.(1207-1209)aGt>aTt	p.S403I	NAA16_ENST00000403412.3_Missense_Mutation_p.S403I|NAA16_ENST00000379367.3_Missense_Mutation_p.S403I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	403					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GCAATTGCTAGTACTCCAACT	0.338																																					p.S403I		.											.	NAA16-90	0			c.G1208T						.						78	78	78					13																	41932560		2203	4300	6503	SO:0001583	missense	79612	exon11			TTGCTAGTACTCC	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1208G>T	13.37:g.41932560G>T	ENSP00000368716:p.Ser403Ile	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	50	13	NM_001110798	0	0	0	0	0	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827040	0.50739	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.60424	0.92;0.92;0.19	4.82	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	L	0.52126	1.63	0.58432	D	0.999999	P;D	0.52996	0.845;0.957	P;P	0.62298	0.857;0.9	T	0.62364	-0.6870	10	0.17832	T	0.49	-12.4899	17.8716	0.88813	0.0:0.0:1.0:0.0	.	403;403	Q6N069;Q6N069-4	NAA16_HUMAN;.	I	403	ENSP00000368674:S403I;ENSP00000368716:S403I;ENSP00000386103:S403I	ENSP00000368674:S403I	S	+	2	0	NAA16	40830560	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.350000	0.79385	2.205000	0.71048	0.484000	0.47621	AGT	.		0.338	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		T	41932560	G	T	41932560	3	4	31	1	0	0	0	0	1	0	0	0	10157	1029	36	3	1250	3	NAA16	13	41932560	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2667942	41932560	73237318	1664	7216											
ENOX1	55068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	43896519	43896519	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcagttatcggcattaCctgattcatcgactctcatt	8	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:43896519C>A	ENST00000261488.6	-	11	1839		c.e11+1		ENOX1_ENST00000540032.1_Splice_Site|ENOX1_ENST00000412891.1_Splice_Site	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1						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)		ATCGGCATTACCTGATTCATC	0.428																																					.		.											.	ENOX1-92	0			c.1261+1G>T						.						173	160	165					13																	43896519		2203	4300	6503	SO:0001630	splice_region_variant	55068	exon12			GCATTACCTGATT	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.1261+1G>T	13.37:g.43896519C>A		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	73	28	NM_001242863	0	0	0	0	0	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Splice_Site	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017373	0.75161	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENOX1	42794519	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.172000	0.77604	2.722000	0.93159	0.650000	0.86243	.	.		0.428	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	Intron	A	43896519	C	A	43896519	5	1	31	1	0	0	0	0	0	0	1	0	5142	521	18	3	697	3	ENOX1	13	43896519	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1963959	43896519	71273359	1665	7217											
TSC22D1	8848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	45147767	45147767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taactgcaggcaactgctgtGaaacaattccttgagctact	8	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:45147767G>A	ENST00000458659.2	-	1	2934	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	815	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S815*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAACTGCTGTGAAACAATTCC	0.468																																					p.S815L		.											.	TSC22D1-90	1	Substitution - Nonsense(1)	urinary_tract(1)	c.C2444T						.						131	138	136					13																	45147767		2203	4300	6503	SO:0001583	missense	8848	exon1			TGCTGTGAAACAA	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2444C>T	13.37:g.45147767G>A	ENSP00000397435:p.Ser815Leu	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	86	28	NM_183422	0	0	0	0	0	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618730	0.14129	.	.	ENSG00000102804	ENST00000458659	D	0.84223	-1.82	4.77	1.96	0.26148	.	0.887861	0.09470	N	0.797815	T	0.71476	0.3344	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.14023	0.01	T	0.56571	-0.7957	10	0.29301	T	0.29	.	2.5326	0.04706	0.1724:0.2265:0.4746:0.1264	.	815	Q15714	T22D1_HUMAN	L	815	ENSP00000397435:S815L	ENSP00000397435:S815L	S	-	2	0	TSC22D1	44045767	0.005000	0.15991	0.233000	0.24025	0.741000	0.42261	1.760000	0.38430	0.619000	0.30197	0.462000	0.41574	TCA	.		0.468	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		A	45147767	G	A	45147767	3	1	31	1	0	0	0	0	1	0	0	0	16655	1294	45	3	918	3	TSC22D1	13	45147767	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1251248	45147767	70022111	1666	7218											
LRCH1	23143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	47297444	47297444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgagagaagagaaagaGctggtggaacaacttcgtga	14	5	0	6	rs188820612		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:47297444G>T	ENST00000389798.3	+	16	1940	c.1743G>T	c.(1741-1743)gaG>gaT	p.E581D	LRCH1_ENST00000389797.3_Missense_Mutation_p.E616D|LRCH1_ENST00000311191.6_Missense_Mutation_p.E581D	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	581	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGAGAAAGAGCTGGTGGAAC	0.368																																					p.E616D		.											.	LRCH1-91	0			c.G1848T						.						81	83	83					13																	47297444		2203	4300	6503	SO:0001583	missense	23143	exon17			GAAAGAGCTGGTG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1743G>T	13.37:g.47297444G>T	ENSP00000374448:p.Glu581Asp	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	30	11	NM_001164211	0	0	0	0	0	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018250	0.75275	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.58506	0.33;0.37;0.35	5.68	2.51	0.30379	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.63843	1.955	0.43242	D	0.995151	P;D;D	0.76494	0.712;0.999;0.999	B;D;D	0.81914	0.396;0.995;0.976	T	0.65162	-0.6235	10	0.33940	T	0.23	-8.0409	10.842	0.46722	0.1499:0.0:0.8501:0.0	.	581;616;581	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	D	581;581;616	ENSP00000308493:E581D;ENSP00000374448:E581D;ENSP00000374447:E616D	ENSP00000308493:E581D	E	+	3	2	LRCH1	46195445	0.996000	0.38824	0.980000	0.43619	0.988000	0.76386	0.333000	0.19768	0.613000	0.30089	0.650000	0.86243	GAG	G|0.999;A|0.000		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		T	47297444	G	T	47297444	3	4	31	1	0	0	0	0	1	0	0	0	8967	962	34	3	1914	3	LRCH1	13	47297444	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2149677	47297444	67872434	1667	7219											
HTR2A	3356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	47469863	47469863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagacacgacggtgagaggCacccttcacaggaaaggttg	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:47469863C>A	ENST00000378688.4	-	1	310	c.179G>T	c.(178-180)tGc>tTc	p.C60F	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.C60F			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	60					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGTGAGAGGCACCCTTCACA	0.433																																					p.C60F		.											.	HTR2A-519	0			c.G179T						.						121	117	118					13																	47469863		2203	4300	6503	SO:0001583	missense	3356	exon2			GAGAGGCACCCTT	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.179G>T	13.37:g.47469863C>A	ENSP00000367959:p.Cys60Phe	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	129	36	NM_000621	0	0	0	0	0	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315717	0.10789	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.35973	1.28;1.28	5.7	3.58	0.41010	.	0.377703	0.26234	N	0.025550	T	0.16727	0.0402	N	0.08118	0	0.27481	N	0.952574	B	0.14805	0.011	B	0.06405	0.002	T	0.14337	-1.0476	10	0.24483	T	0.36	.	7.7964	0.29150	0.0:0.6968:0.0:0.3032	.	60	P28223	5HT2A_HUMAN	F	60	ENSP00000367959:C60F;ENSP00000437737:C60F	ENSP00000367959:C60F	C	-	2	0	HTR2A	46367864	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	1.433000	0.34947	1.067000	0.40740	0.655000	0.94253	TGC	.		0.433	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		A	47469863	C	A	47469863	3	1	31	1	0	0	0	0	1	0	0	0	7468	710	25	3	1248	3	HTR2A	13	47469863	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	172419	47469863	67700015	1668	7220											
ITM2B	9445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	48830474	48830474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgtgcctgtcccagaGtttgcagatagtgatcctgc	11	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:48830474G>T	ENST00000378565.5	+	3	611	c.408G>T	c.(406-408)gaG>gaT	p.E136D	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	136					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTGTCCCAGAGTTTGCAGATA	0.403																																					p.E136D		.											.	ITM2B-90	0			c.G408T						.						94	93	93					13																	48830474		2203	4300	6503	SO:0001583	missense	9445	exon3			CCCAGAGTTTGCA	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.408G>T	13.37:g.48830474G>T	ENSP00000367828:p.Glu136Asp	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	53	12	NM_021999	0	0	0	0	0	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776061	0.31411	.	.	ENSG00000136156	ENST00000378565	T	0.30714	1.52	5.76	1.94	0.25998	.	0.241233	0.48286	N	0.000193	T	0.18341	0.0440	L	0.47716	1.5	0.45621	D	0.998553	B	0.09022	0.002	B	0.10450	0.005	T	0.18999	-1.0319	10	0.02654	T	1	-0.2305	4.67	0.12683	0.3743:0.0:0.4842:0.1415	.	136	Q9Y287	ITM2B_HUMAN	D	136	ENSP00000367828:E136D	ENSP00000367828:E136D	E	+	3	2	ITM2B	47728475	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.556000	0.23438	0.304000	0.22809	0.650000	0.86243	GAG	.		0.403	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		T	48830474	G	T	48830474	3	4	31	1	0	0	0	0	1	0	0	0	7940	1020	36	3	418	3	ITM2B	13	48830474	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1360611	48830474	66339404	1669	7221											
ARL11	115761	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	50205070	50205070	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactggggaggggctgCccgaggccctgcagagcctg	16	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:50205070C>G	ENST00000282026.1	+	2	822	c.487C>G	c.(487-489)Ccc>Gcc	p.P163A	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	163					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GGAGGGGCTGCCCGAGGCCCT	0.622																																					p.P163A		.											.	ARL11-90	0			c.C487G						.						19	19	19					13																	50205070		2200	4292	6492	SO:0001583	missense	115761	exon2			GGGCTGCCCGAGG	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.487C>G	13.37:g.50205070C>G	ENSP00000282026:p.Pro163Ala	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	65	26	NM_138450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037892	0.08148	.	.	ENSG00000152213	ENST00000282026	D	0.81739	-1.53	5.42	0.117	0.14652	.	0.708059	0.13713	N	0.367950	T	0.54791	0.1880	N	0.04203	-0.255	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.48387	-0.9040	10	0.87932	D	0	-11.3061	2.1249	0.03736	0.12:0.432:0.1984:0.2496	.	163	Q969Q4	ARL11_HUMAN	A	163	ENSP00000282026:P163A	ENSP00000282026:P163A	P	+	1	0	ARL11	49103071	0.000000	0.05858	0.260000	0.24451	0.677000	0.39632	0.215000	0.17562	0.237000	0.21200	-0.126000	0.14955	CCC	.		0.622	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		G	50205070	C	G	50205070	3	3	31	1	0	0	0	0	1	0	0	0	927	739	26	3	489	3	ARL11	13	50205070	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1374596	50205070	64964808	1670	7222											
DLEU7	220107	hgsc.bcm.edu	37	chr13	51417472	51417472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcccgcggtcccggGggaagggcagcaactcggcg	19	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:51417472G>A	ENST00000504404.1	-	1	360	c.311C>T	c.(310-312)cCc>cTc	p.P104L	DLEU7_ENST00000400393.3_Missense_Mutation_p.P104L|DLEU7-AS1_ENST00000413510.2_RNA			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	104													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GCGGTCCCGGGGGAAGGGCAG	0.746																																					p.P104L		.											.	.	0			c.C311T						.						5	6	6					13																	51417472		1837	3870	5707	SO:0001583	missense	220107	exon1			TCCCGGGGGAAGG	AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000504404.1:c.311C>T	13.37:g.51417472G>A	ENSP00000427177:p.Pro104Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	16	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		.	.	.	.	.	.	.	.	.	.	G	9.943	1.218071	0.22373	.	.	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.46063	0.88;0.91	3.82	3.82	0.43975	.	0.000000	0.46758	D	0.000268	T	0.33411	0.0862	L	0.54323	1.7	0.19300	N	0.999979	B;B	0.30851	0.035;0.297	B;B	0.23419	0.021;0.046	T	0.36672	-0.9738	10	0.72032	D	0.01	.	7.4657	0.27320	0.1195:0.0:0.8805:0.0	.	104;104	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	L	104;104;57	ENSP00000420976:P104L;ENSP00000427177:P104L	ENSP00000439677:P57L	P	-	2	0	DLEU7	50315473	0.880000	0.30214	0.030000	0.17652	0.054000	0.15201	3.035000	0.49759	2.119000	0.64992	0.491000	0.48974	CCC	.		0.746	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989		A	51417472	G	A	51417472	3	1	31	1	0	0	0	0	1	0	0	0	4567	1232	43	3	179	3	DLEU7	13	51417472	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1212402	51417472	63752406	1671	7223											
DLEU7	220107	hgsc.bcm.edu	37	chr13	51417535	51417535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctctggggagttcGcccgcgccgcggtccgccga	13	19	1	0	rs898861	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:51417535G>A	ENST00000504404.1	-	1	297	c.248C>T	c.(247-249)gCg>gTg	p.A83V	DLEU7_ENST00000400393.3_Missense_Mutation_p.A83V|DLEU7-AS1_ENST00000413510.2_RNA			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	83			A -> V (in dbSNP:rs898861). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.										Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGGGGAGTTCGCCCGCGCCGC	0.811													G|||	885	0.176717	0.0968	0.1888	5008	,	,		8444	0.2917		0.1988	False		,,,				2504	0.135				p.A83V		.											.	.	0			c.C248T						.	G	VAL/ALA	212,2568		7,198,1185	2	3	3		248	1.8	0	13	dbSNP_86	3	970,5336		43,884,2226	yes	missense	DLEU7	NM_198989.2	64	50,1082,3411	AA,AG,GG		15.3822,7.6259,13.009	possibly-damaging	83/161	51417535	1182,7904	1390	3153	4543	SO:0001583	missense	220107	exon1			GAGTTCGCCCGCG	AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000504404.1:c.248C>T	13.37:g.51417535G>A	ENSP00000427177:p.Ala83Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		458	0.2097069597069597	57	0.11585365853658537	67	0.1850828729281768	188	0.32867132867132864	146	0.19261213720316622	G	11.22	1.574237	0.28092	0.076259	0.153822	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.49139	0.79;0.82	2.72	1.81	0.25067	.	0.342483	0.19746	U	0.107012	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.28026	0.198;0.198	B;B	0.25506	0.061;0.061	T	0.32587	-0.9901	9	0.07175	T	0.84	.	5.0335	0.14423	0.0:0.2383:0.5179:0.2437	rs898861;rs12869977	83;83	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	V	83;83;36	ENSP00000420976:A83V;ENSP00000427177:A83V	ENSP00000439677:A36V	A	-	2	0	DLEU7	50315536	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.065000	0.14466	0.650000	0.30769	0.491000	0.48974	GCG	G|0.789;A|0.211		0.811	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989		A	51417535	G	A	51417535	3	1	31	1	0	0	0	0	1	0	0	0	4567	1087	38	1	242	1	DLEU7	13	51417535	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	63	51417535	63752343	1672	7224											
PCDH8	5100	broad.mit.edu;bcgsc.ca	37	chr13	53420741	53420741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccattggctggcgccgggtGcaccaggactggcgcatggt	17	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53420741G>T	ENST00000377942.3	-	1	2034	c.1831C>A	c.(1831-1833)Cac>Aac	p.H611N	PCDH8_ENST00000338862.4_Missense_Mutation_p.H611N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	611					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGCCGGGTGCACCAGGACT	0.677																																					p.H611N	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.C1831A						.						11	12	12					13																	53420741		2179	4268	6447	SO:0001583	missense	5100	exon1			CCGGGTGCACCAG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1831C>A	13.37:g.53420741G>T	ENSP00000367177:p.His611Asn	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	102	28	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514341	0.27123	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.60424	0.19;0.19	4.01	4.01	0.46588	Cadherin-like (1);	0.152154	0.30356	N	0.009808	T	0.44008	0.1273	N	0.17872	0.535	0.50632	D	0.999888	B;B	0.19706	0.015;0.038	B;B	0.20955	0.018;0.032	T	0.35968	-0.9767	10	0.35671	T	0.21	.	16.3142	0.82909	0.0:0.0:1.0:0.0	.	611;611	O95206-2;O95206	.;PCDH8_HUMAN	N	611;611;137;454	ENSP00000367177:H611N;ENSP00000341350:H611N	ENSP00000341350:H611N	H	-	1	0	PCDH8	52318742	1.000000	0.71417	0.995000	0.50966	0.732000	0.41865	7.512000	0.81728	2.069000	0.61940	0.511000	0.50034	CAC	.		0.677	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		T	53420741	G	T	53420741	3	4	31	1	0	0	0	0	1	0	0	0	11556	1319	46	3	1393	3	PCDH8	13	53420741	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2003206	53420741	61749137	1673	7225											
PCDH8	5100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	53422274	53422274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccagcacgcactgcgGggcctggccacacagccgct	14	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53422274G>T	ENST00000377942.3	-	1	501	c.298C>A	c.(298-300)Ccg>Acg	p.P100T	PCDH8_ENST00000338862.4_Missense_Mutation_p.P100T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACGCACTGCGGGGCCTGGCCA	0.682																																					p.P100T	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.C298A						.						36	35	35					13																	53422274		2202	4297	6499	SO:0001583	missense	5100	exon1			ACTGCGGGGCCTG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.298C>A	13.37:g.53422274G>T	ENSP00000367177:p.Pro100Thr	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	68	21	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556636	0.27827	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.26518	1.73;1.73	4.46	4.46	0.54185	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.40469	N	0.001090	T	0.39332	0.1074	L	0.46741	1.465	0.44207	D	0.997037	P;P	0.52316	0.941;0.952	P;D	0.63283	0.676;0.913	T	0.06954	-1.0798	10	0.45353	T	0.12	.	11.8548	0.52431	0.0839:0.0:0.916:0.0	.	100;100	O95206-2;O95206	.;PCDH8_HUMAN	T	100	ENSP00000367177:P100T;ENSP00000341350:P100T	ENSP00000341350:P100T	P	-	1	0	PCDH8	52320275	1.000000	0.71417	0.864000	0.33941	0.997000	0.91878	2.990000	0.49401	2.337000	0.79520	0.561000	0.74099	CCG	.		0.682	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		T	53422274	G	T	53422274	3	4	31	1	0	0	0	0	1	0	0	0	11556	1232	43	3	2926	3	PCDH8	13	53422274	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1533	53422274	61747604	1674	7226											
OLFM4	10562	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	53624443	53624443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttaacctgaccaccaacaCgattgctgtgactcaaactc	6	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53624443C>A	ENST00000219022.2	+	5	1148	c.1070C>A	c.(1069-1071)aCg>aAg	p.T357K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	357	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)		ACCACCAACACGATTGCTGTG	0.428																																					p.T357K		.											.	OLFM4-69	0			c.C1070A						.						190	177	181					13																	53624443		2203	4300	6503	SO:0001583	missense	10562	exon5			CCAACACGATTGC	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.1070C>A	13.37:g.53624443C>A	ENSP00000219022:p.Thr357Lys	Somatic	291	1		WXS	Illumina GAIIx	Phase_I	203	54	NM_006418	0	0	0	0	0	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	5.515	0.280028	0.10458	.	.	ENSG00000102837	ENST00000219022	D	0.88896	-2.44	5.92	-11.8	0.00035	Olfactomedin-like (3);	1.724340	0.02322	N	0.073061	T	0.74359	0.3706	N	0.25485	0.75	0.09310	N	1	B	0.14012	0.009	B	0.19391	0.025	T	0.60831	-0.7185	10	0.02654	T	1	.	5.9875	0.19442	0.5014:0.1195:0.2822:0.097	.	357	Q6UX06	OLFM4_HUMAN	K	357	ENSP00000219022:T357K	ENSP00000219022:T357K	T	+	2	0	OLFM4	52522444	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-5.033000	0.00158	-3.615000	0.00132	-2.110000	0.00354	ACG	.		0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624443	C	A	53624443	3	1	31	1	0	0	0	0	1	0	0	0	10894	536	19	2	1088	2	OLFM4	13	53624443	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	202169	53624443	61545435	1675	7227											
PCDH17	27253	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	58208469	58208469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgacaccgcggagctgcagGtgccgcgcaacgctggcctg	15	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58208469G>T	ENST00000377918.3	+	1	1815	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAGCTGCAGGTGCCGCGCAA	0.652																																					p.V597L	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.G1789T						.						31	30	31					13																	58208469		2202	4299	6501	SO:0001583	missense	27253	exon1			CTGCAGGTGCCGC	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.1789G>T	13.37:g.58208469G>T	ENSP00000367151:p.Val597Leu	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	107	32	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770562	0.49680	.	.	ENSG00000118946	ENST00000377918	T	0.55234	0.53	5.36	5.36	0.76844	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	N	0.21508	0.67	0.54753	D	0.999984	D;D	0.54601	0.959;0.967	P;P	0.62014	0.835;0.897	T	0.55192	-0.8179	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	597;597	O14917-2;O14917	.;PCD17_HUMAN	L	597	ENSP00000367151:V597L	.	V	+	1	0	PCDH17	57106470	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.876000	0.87215	2.500000	0.84329	0.561000	0.74099	GTG	.		0.652	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		T	58208469	G	T	58208469	3	4	31	1	0	0	0	0	1	0	0	0	11551	1261	44	3	1791	3	PCDH17	13	58208469	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4584026	58208469	56961409	1676	7228											
PCDH17	27253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	58208760	58208760	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccttcccgagggggtaccaCgggtgaatggcgagcagcac	15	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58208760C>G	ENST00000377918.3	+	1	2106	c.2080C>G	c.(2080-2082)Cgg>Ggg	p.R694G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	694	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGGGTACCACGGGTGAATGG	0.622																																					p.R694G	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.C2080G						.						72	72	72					13																	58208760		2203	4300	6503	SO:0001583	missense	27253	exon1			GTACCACGGGTGA	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.2080C>G	13.37:g.58208760C>G	ENSP00000367151:p.Arg694Gly	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	164	41	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852807	0.17106	.	.	ENSG00000118946	ENST00000377918	T	0.52983	0.64	5.32	5.32	0.75619	Cadherin (1);	0.166402	0.52532	D	0.000068	T	0.36663	0.0975	L	0.29908	0.895	0.46927	D	0.999259	B;B	0.23891	0.081;0.093	B;B	0.26693	0.072;0.02	T	0.13522	-1.0506	9	.	.	.	.	13.9235	0.63948	0.152:0.848:0.0:0.0	.	694;694	O14917-2;O14917	.;PCD17_HUMAN	G	694	ENSP00000367151:R694G	.	R	+	1	2	PCDH17	57106761	0.991000	0.36638	0.999000	0.59377	0.914000	0.54420	2.949000	0.49074	2.482000	0.83794	0.561000	0.74099	CGG	.		0.622	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		G	58208760	C	G	58208760	3	3	31	1	0	0	0	0	1	0	0	0	11551	527	19	2	2082	2	PCDH17	13	58208760	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	291	58208760	56961118	1677	7229											
PCDH17	27253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	58240856	58240856	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgggcacggggacagtGatcaggctgacagtgaccaa	15	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58240856G>T	ENST00000377918.3	+	3	2712	c.2686G>T	c.(2686-2688)Gat>Tat	p.D896Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	896					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)		CGGGGACAGTGATCAGGCTGA	0.463																																					p.D896Y	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.G2686T						.						96	92	93					13																	58240856		2203	4300	6503	SO:0001583	missense	27253	exon3			GACAGTGATCAGG	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.2686G>T	13.37:g.58240856G>T	ENSP00000367151:p.Asp896Tyr	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	119	42	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937384	0.73557	.	.	ENSG00000118946	ENST00000377918	T	0.58210	0.35	5.83	5.83	0.93111	.	0.042806	0.85682	D	0.000000	T	0.71813	0.3384	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68303	-0.5444	9	.	.	.	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	896	O14917	PCD17_HUMAN	Y	896	ENSP00000367151:D896Y	.	D	+	1	0	PCDH17	57138857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.761000	0.94854	0.650000	0.86243	GAT	.		0.463	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		T	58240856	G	T	58240856	3	4	31	1	0	0	0	0	1	0	0	0	11551	1290	45	3	2696	3	PCDH17	13	58240856	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	32096	58240856	56929022	1678	7230											
PCDH9	5101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	67205483	67205483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctcatggtctcctagacCactgtcactgcagctttcct	8	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:67205483C>A	ENST00000377865.2	-	3	3333	c.3199G>T	c.(3199-3201)Ggt>Tgt	p.G1067C	PCDH9_ENST00000456367.1_Missense_Mutation_p.G1033C|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1033C|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1067C			Q9HC56	PCDH9_HUMAN	protocadherin 9	1067					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTCCTAGACCACTGTCACTG	0.547																																					p.G1067C		.											.	PCDH9-96	0			c.G3199T						.						109	94	99					13																	67205483		2203	4300	6503	SO:0001583	missense	5101	exon4			CTAGACCACTGTC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3199G>T	13.37:g.67205483C>A	ENSP00000367096:p.Gly1067Cys	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	64	17	NM_203487	0	0	0	0	0	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916968	0.92249	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.70164	-0.46;-0.46;-0.14;-0.14	5.63	5.63	0.86233	.	0.000000	0.45361	D	0.000371	T	0.80747	0.4682	M	0.62723	1.935	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.947	T	0.81355	-0.0970	10	0.66056	D	0.02	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	1033;1067	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	C	1067;1067;1033;1033	ENSP00000442186:G1067C;ENSP00000367096:G1067C;ENSP00000401699:G1033C;ENSP00000332060:G1033C	ENSP00000332060:G1033C	G	-	1	0	PCDH9	66103484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.652000	0.90054	0.655000	0.94253	GGT	.		0.547	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67205483	C	A	67205483	3	1	31	1	0	0	0	0	1	0	0	0	11557	594	21	3	522	3	PCDH9	13	67205483	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8964627	67205483	47964395	1679	7231											
KLHL1	57626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	70281793	70281794	+	Missense_Mutation	DNP	CA	CA	AG													gtttgtgggtcataggattcCatagtgttgaggtatgtctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70281793_70281794CA>AG	ENST00000377844.4	-	10	2909_2910	c.2150_2151TG>CT	c.(2149-2151)aTG>aCT	p.M717T	KLHL1_ENST00000545028.1_Missense_Mutation_p.M524T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	717					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)		CATAGGATTCCATAGTGTTGAG	0.416																																					p.M717T		.											.	KLHL1-90	0			c.T2150C						.																																			SO:0001583	missense	57626	exon10			GATTCCATAGTGT	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.2150_2151delinsAG	13.37:g.70281793_70281794delinsAG	ENSP00000367075:p.Met717Thr	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	92	0	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	DNP	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.416	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		AG	70281794	CA	AG	70281793	3	1	31	1	0	0	0	0	1	0	0	0	8392	594	21	3	103	3	KLHL1	13	70281793	Missense_Mutation	DNP	CA	TCGA-OR-A5KB-01A-11D-A30A-10	3076310	70281793	44888085	1680	7232											
KLHL1	57626	bcgsc.ca	37	chr13	70681347	70681347	+	Frame_Shift_Del	DEL	C	C	-													tactgtacctgtgtccacatCcttcacctgttgcctggcta							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681347delC	ENST00000377844.4	-	1	1244	c.485delG	c.(484-486)ggafs	p.G162fs	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Frame_Shift_Del_p.G30fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	162					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)	p.G162A(1)		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)		GTGTCCACATCCTTCACCTGT	0.517																																					p.G162fs		.											.	KLHL1-90	1	Substitution - Missense(1)	lung(1)	c.485delG						.						127	105	113					13																	70681347		2203	4300	6503	SO:0001589	frameshift_variant	57626	exon1			CCACATCCTTCAC	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.485delG	13.37:g.70681347delC	ENSP00000367075:p.Gly162fs	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	147	43	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.517	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		-	70681347	C	-	70681347	7	5	31	1	0	1	0	1	0	0	0	0	8392	855	30	0	1805	0	KLHL1	13	70681347	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	399554	70681347	44488531	1681	7233	58	3									
KLHL1	57626	hgsc.bcm.edu	37	chr13	70681348	70681349	+	Frame_Shift_Del	DEL	CT	CT	-													actgtacctgtgtccacatcCttcacctgttgcctggctag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681348_70681349delCT	ENST00000377844.4	-	1	1242_1243	c.483_484delAG	c.(481-486)gaaggafs	p.G162fs	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Frame_Shift_Del_p.G30fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	162					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)		TGTCCACATCCTTCACCTGTTG	0.52																																					p.161_162del		.											.	KLHL1-90	0			c.483_484del						.																																			SO:0001589	frameshift_variant	57626	exon1			CACATCCTTCACC	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.483_484delAG	13.37:g.70681348_70681349delCT	ENSP00000367075:p.Gly162fs	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	148	0	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.52	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		-	70681349	CT	-	70681348	7	5	31	1	0	1	0	1	0	0	0	0	8392	690	24	0	1806	0	KLHL1	13	70681348	Frame_Shift_Del	DEL	CT	TCGA-OR-A5KB-01A-11D-A30A-10	1	70681348	44488530	1682	7234	58	3									
KLHL1	57626	bcgsc.ca	37	chr13	70681349	70681349	+	Missense_Mutation	SNP	T	T	A													ctgtacctgtgtccacatccTtcacctgttgcctggctaga							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681349T>A	ENST00000377844.4	-	1	1242	c.483A>T	c.(481-483)gaA>gaT	p.E161D	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_Missense_Mutation_p.E29D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	161					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)		GTCCACATCCTTCACCTGTTG	0.522																																					p.E161D		.											.	KLHL1-90	0			c.A483T						.						128	106	114					13																	70681349		2203	4300	6503	SO:0001583	missense	57626	exon1			ACATCCTTCACCT	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.483A>T	13.37:g.70681349T>A	ENSP00000367075:p.Glu161Asp	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	147	43	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384638	0.42308	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.70749	-0.51;-0.49	5.5	4.29	0.51040	.	0.589378	0.16278	N	0.221467	T	0.50377	0.1612	N	0.21373	0.66	0.21627	N	0.999613	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.32079	-0.9920	10	0.11182	T	0.66	.	6.4386	0.21837	0.1482:0.0:0.1766:0.6752	.	161;161	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	161;29	ENSP00000367075:E161D;ENSP00000439602:E29D	ENSP00000367075:E161D	E	-	3	2	KLHL1	69579350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	0.875000	0.35847	0.533000	0.62120	GAA	.		0.522	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		A	70681349	T	A	70681349	3	1	31	1	0	0	0	0	1	0	0	0	8392	1606	56	5	1807	5	KLHL1	13	70681349	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1	70681349	44488529	1683	7235	58	3									
DACH1	1602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	72063190	72063191	+	Missense_Mutation	DNP	GG	GG	AT													caggaaacagaaaaggagatGgaaaacctggaggcagtggt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:72063190_72063191GG>AT	ENST00000359684.2	-	8	1821_1822	c.1822_1823CC>AT	c.(1822-1824)CCa>ATa	p.P608I	DACH1_ENST00000313174.7_Missense_Mutation_p.P408I|DACH1_ENST00000354591.4_Missense_Mutation_p.P354I|DACH1_ENST00000305425.4_Missense_Mutation_p.P556I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	608					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAAGGAGATGGAAAACCTGGA	0.47																																					p.P608I		.											.	DACH1-135	0			c.C1666A						.																																			SO:0001583	missense	1602	exon7			GAGATGGAAAACC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1822_1823delinsAT	13.37:g.72063190_72063191delinsAT	ENSP00000352712:p.Pro608Ile	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	56	0	NM_080759	0	0	0	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	DNP	ENST00000359684.2	37																																																																																				.		0.47	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		AT	72063191	GG	AT	72063190	3	1	31	1	0	0	0	0	1	0	0	0	4229	1348	47	3	479	3	DACH1	13	72063190	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	1381841	72063190	43106688	1684	7236											
TBC1D4	9882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	75915278	75915278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagaagggccttccccgaTgtgcacgtgtgtcttctgct	11	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:75915278T>C	ENST00000377636.3	-	7	1940	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	TBC1D4_ENST00000431480.2_Missense_Mutation_p.I532V|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.I532V	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	532					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTTCCCCGATGTGCACGTGT	0.413																																					p.I532V		.											.	TBC1D4-95	0			c.A1594G						.						134	131	132					13																	75915278		2009	4176	6185	SO:0001583	missense	9882	exon7			CCCCGATGTGCAC	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1594A>G	13.37:g.75915278T>C	ENSP00000366863:p.Ile532Val	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	106	28	NM_014832	0	0	0	0	0	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836078	0.32421	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.23348	4.01;4.01;4.02;1.91	5.07	3.86	0.44501	.	0.102476	0.39687	N	0.001299	T	0.25938	0.0632	M	0.61703	1.905	0.80722	D	1	B;B;B	0.23249	0.082;0.01;0.006	B;B;B	0.22753	0.041;0.016;0.012	T	0.03840	-1.0999	10	0.22109	T	0.4	-5.7224	12.1997	0.54317	0.0:0.0:0.1429:0.8571	.	532;532;532	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	V	532;532;532;44	ENSP00000366863:I532V;ENSP00000395986:I532V;ENSP00000366852:I532V;ENSP00000396932:I44V	ENSP00000366852:I532V	I	-	1	0	TBC1D4	74813279	1.000000	0.71417	0.053000	0.19242	0.197000	0.23852	5.822000	0.69265	0.856000	0.35383	0.528000	0.53228	ATC	.		0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		C	75915278	T	C	75915278	3	2	31	1	0	0	0	0	1	0	0	0	15669	1464	51	4	2362	4	TBC1D4	13	75915278	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3852088	75915278	39254600	1685	7237											
MYCBP2	23077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	77870754	77870754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttcttgtcttcacttTtgatttgctcttctgttttc	5	10	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:77870754T>C	ENST00000544440.2	-	2	261	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K82E|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K120E					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)		GTCTTCACTTTTGATTTGCTC	0.249																																					p.K120E		.											.	MYCBP2-236	0			c.A358G						.						168	146	153					13																	77870754		2202	4298	6500	SO:0001583	missense	23077	exon2			TCACTTTTGATTT	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.244A>G	13.37:g.77870754T>C	ENSP00000444596:p.Lys82Glu	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	13	4	NM_015057	0	0	0	0	0		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.209179	0.79240	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.47;1.46;1.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.47716	1.5	0.45962	D	0.998785	P	0.52842	0.956	D	0.65010	0.931	T	0.41395	-0.9511	10	0.56958	D	0.05	.	14.796	0.69878	0.0:0.0:0.0:1.0	.	82	O75592	MYCB2_HUMAN	E	82;120;82	ENSP00000349892:K82E;ENSP00000384288:K120E;ENSP00000444596:K82E	ENSP00000349892:K82E	K	-	1	0	MYCBP2	76768755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.075000	0.71261	2.234000	0.73211	0.472000	0.43445	AAA	.		0.249	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77870754	T	C	77870754	3	2	31	1	0	0	0	0	1	0	0	0	10056	1850	64	4	14006	4	MYCBP2	13	77870754	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1955476	77870754	37299124	1686	7238											
EDNRB	1910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	78492683	78492683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccagcgcaaccagggcgcgtCcgcacagacttggaggcggc	15	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:78492683C>G	ENST00000334286.5	-	1	262	c.26G>C	c.(25-27)gGa>gCa	p.G9A	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Missense_Mutation_p.G99A|EDNRB_ENST00000446573.1_Missense_Mutation_p.G9A|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	9					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)	CAGGGCGCGTCCGCACAGACT	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G99A		.											.	EDNRB-522	0			c.G296C						.						26	30	29					13																	78492683		2203	4300	6503	SO:0001583	missense	1910	exon2			GCGCGTCCGCACA	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.26G>C	13.37:g.78492683C>G	ENSP00000335311:p.Gly9Ala	Somatic	93	0	1183	WXS	Illumina GAIIx	Phase_I	79	24	NM_001201397	0	0	0	0	0	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038840	0.35989	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.74106	-0.81;-0.43;-0.54	4.31	2.51	0.30379	.	1.121610	0.06825	N	0.792914	T	0.68504	0.3008	L	0.51422	1.61	0.09310	N	1	B;B;B	0.22683	0.073;0.001;0.001	B;B;B	0.25291	0.059;0.002;0.002	T	0.54622	-0.8266	10	0.37606	T	0.19	0.0726	6.8585	0.24054	0.2003:0.6059:0.1938:0.0	.	9;99;9	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	A	99;9;9	ENSP00000366416:G99A;ENSP00000403401:G9A;ENSP00000335311:G9A	ENSP00000335311:G9A	G	-	2	0	EDNRB	77390684	0.001000	0.12720	0.312000	0.25196	0.967000	0.64934	0.501000	0.22578	0.522000	0.28464	0.591000	0.81541	GGA	.		0.642	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			G	78492683	C	G	78492683	3	3	31	1	0	0	0	0	1	0	0	0	4934	855	30	3	1451	3	EDNRB	13	78492683	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	621929	78492683	36677195	1687	7239											
POU4F1	5457	bcgsc.ca;mdanderson.org	37	chr13	79176516	79176516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtgcgcCagaggcaccgtggaagtgga	21	6	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:79176516C>A	ENST00000377208.5	-	2	505	c.294G>T	c.(292-294)ctG>ctT	p.L98L	RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	98					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		ggtggtgCGCCAGAGGCACCG	0.672																																					p.L98L	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	.											.	POU4F1-515	0			c.G294T						.						33	19	24					13																	79176516		2170	4258	6428	SO:0001819	synonymous_variant	5457	exon2			GTGCGCCAGAGGC	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.294G>T	13.37:g.79176516C>A		Somatic	39	1		WXS	Illumina GAIIx	Phase_I	54	21	NM_006237	0	0	0	0	0	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	CCDS31996.1																																																																																			.		0.672	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			A	79176516	C	A	79176516	2	1	31	1	0	0	0	0	0	0	0	1	12317	581	21	3		3	POU4F1	13	79176516	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	683833	79176516	35993362	1688	7240											
RNF219	79596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	79191112	79191112	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcatagcttctttctcttCacttgaattttttagctgtg	5	8	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:79191112C>A	ENST00000282003.6	-	6	842	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	262							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTTTCTCTTCACTTGAATTT	0.433																																					p.E262X		.											.	RNF219-135	0			c.G784T						.						113	110	111					13																	79191112		2203	4300	6503	SO:0001587	stop_gained	79596	exon6			TCTCTTCACTTGA	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.784G>T	13.37:g.79191112C>A	ENSP00000282003:p.Glu262*	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	73	18	NM_024546	0	0	0	0	0	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157082	0.57259	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	5.33	0.75918	.	0.295163	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.7487	13.4238	0.61013	0.0:0.8707:0.0:0.1293	.	.	.	.	X	262	.	ENSP00000282003:E262X	E	-	1	0	RNF219	78089113	0.967000	0.33354	0.983000	0.44433	0.638000	0.38207	3.013000	0.49582	1.632000	0.50472	-0.140000	0.14226	GAA	.		0.433	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		A	79191112	C	A	79191112	4	1	31	1	0	0	0	0	0	1	0	0	13527	835	29	3	1400	3	RNF219	13	79191112	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	14596	79191112	35978766	1689	7241											
SLITRK1	114798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	84455469	84455469	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaataaatggtaaaactgGgaagtcggggcagtgaaacg	14	4	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:84455469G>T	ENST00000377084.2	-	1	1059	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	58					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTAAAACTGGGAAGTCGGGG	0.433																																					p.S58S		.											.	SLITRK1-94	0			c.C174A						.						77	78	78					13																	84455469		2203	4300	6503	SO:0001819	synonymous_variant	114798	exon1			AAACTGGGAAGTC	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.174C>A	13.37:g.84455469G>T		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	37	9	NM_052910	0	0	0	0	0	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																			.		0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		T	84455469	G	T	84455469	2	4	31	1	0	0	0	0	0	0	0	1	14787	1219	43	3		3	SLITRK1	13	84455469	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5264357	84455469	30714409	1690	7242											
SLITRK6	84189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	86368998	86368998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttttgtcgagatgcccgGgggaagtgcagaggatgtca	15	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:86368998G>T	ENST00000400286.2	-	2	2244	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	549	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAGATGCCCGGGGGAAGTGCA	0.458																																					p.P549H		.											.	SLITRK6-137	0			c.C1646A						.						88	88	88					13																	86368998		1943	4137	6080	SO:0001583	missense	84189	exon2			TGCCCGGGGGAAG	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1646C>A	13.37:g.86368998G>T	ENSP00000383143:p.Pro549His	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	84	14	NM_032229	0	0	0	0	0	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106379	0.37145	.	.	ENSG00000184564	ENST00000400286	T	0.03745	3.82	5.72	5.72	0.89469	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	U	0.000002	T	0.28300	0.0699	H	0.96943	3.91	0.80722	D	1	D	0.71674	0.998	P	0.59487	0.858	T	0.46512	-0.9186	10	0.87932	D	0	-10.0904	18.4428	0.90673	0.0:0.0:1.0:0.0	.	549	Q9H5Y7	SLIK6_HUMAN	H	549	ENSP00000383143:P549H	ENSP00000383143:P549H	P	-	2	0	SLITRK6	85266999	1.000000	0.71417	0.363000	0.25875	0.112000	0.19704	9.869000	0.99810	2.695000	0.91970	0.655000	0.94253	CCC	.		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86368998	G	T	86368998	3	4	31	1	0	0	0	0	1	0	0	0	14792	1232	43	3	883	3	SLITRK6	13	86368998	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1913529	86368998	28800880	1691	7243											
GPC5	2262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	92051320	92051320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggacgcacagacctggcCcgtgggctttcgctgcctcc	13	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:92051320C>A	ENST00000377067.3	+	1	392	c.20C>A	c.(19-21)cCc>cAc	p.P7H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	7					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)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGACCTGGCCCGTGGGCTTT	0.672																																					p.P7H		.											.	GPC5-519	0			c.C20A						.						30	28	29					13																	92051320		2175	4272	6447	SO:0001583	missense	2262	exon1			CCTGGCCCGTGGG	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.20C>A	13.37:g.92051320C>A	ENSP00000366267:p.Pro7His	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	115	26	NM_004466	0	0	0	0	0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053458	0.19907	.	.	ENSG00000179399	ENST00000377067	T	0.41758	0.99	4.0	1.99	0.26369	.	0.494624	0.17935	N	0.157028	T	0.23014	0.0556	N	0.08118	0	0.22292	N	0.999221	B	0.32693	0.38	B	0.34991	0.193	T	0.17561	-1.0365	10	0.44086	T	0.13	.	9.9192	0.41453	0.0:0.5083:0.4917:0.0	.	7	P78333	GPC5_HUMAN	H	7	ENSP00000366267:P7H	ENSP00000366267:P7H	P	+	2	0	GPC5	90849321	0.841000	0.29509	0.889000	0.34880	0.262000	0.26303	0.935000	0.28924	0.900000	0.36469	0.471000	0.43371	CCC	.		0.672	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		A	92051320	C	A	92051320	3	1	31	1	0	0	0	0	1	0	0	0	6627	623	22	3	22	3	GPC5	13	92051320	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5682322	92051320	23118558	1692	7244											
GPC5	2262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	92345810	92345810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggcactcaatctggGcattgaagtcatcaacacca	8	12	5	1	rs372954675		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:92345810G>T	ENST00000377067.3	+	3	1067	c.695G>T	c.(694-696)gGc>gTc	p.G232V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	232					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)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTCAATCTGGGCATTGAAGTC	0.542																																					p.G232V		.											.	GPC5-519	0			c.G695T						.	G	VAL/GLY	0,4406		0,0,2203	52	46	48		695	3.7	1	13		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPC5	NM_004466.4	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	232/573	92345810	1,13005	2203	4300	6503	SO:0001583	missense	2262	exon3			ATCTGGGCATTGA	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.695G>T	13.37:g.92345810G>T	ENSP00000366267:p.Gly232Val	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	70	21	NM_004466	0	0	0	0	0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446914	0.63178	0.0	1.16E-4	ENSG00000179399	ENST00000377067	T	0.56776	0.44	5.49	3.69	0.42338	.	0.103413	0.64402	D	0.000003	T	0.72463	0.3463	M	0.79805	2.47	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.75625	-0.3253	10	0.56958	D	0.05	.	15.2385	0.73450	0.0:0.2308:0.7692:0.0	.	232	P78333	GPC5_HUMAN	V	232	ENSP00000366267:G232V	ENSP00000366267:G232V	G	+	2	0	GPC5	91143811	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.935000	0.87658	0.623000	0.30267	0.591000	0.81541	GGC	.		0.542	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		T	92345810	G	T	92345810	3	4	31	1	0	0	0	0	1	0	0	0	6627	1203	42	3	705	3	GPC5	13	92345810	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	294490	92345810	22824068	1693	7245											
DCT	1638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	95121092	95121092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgggttccattgggcCcaagcaggcccagccagtgt	15	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:95121092C>A	ENST00000377028.5	-	2	916	c.503G>T	c.(502-504)gGg>gTg	p.G168V	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.G168V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	168					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)		TCCATTGGGCCCAAGCAGGCC	0.488																																					p.G168V		.											.	DCT-94	0			c.G503T						.						163	165	164					13																	95121092		2203	4300	6503	SO:0001583	missense	1638	exon2			TTGGGCCCAAGCA	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.503G>T	13.37:g.95121092C>A	ENSP00000366227:p.Gly168Val	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	69	17	NM_001129889	0	0	0	0	0	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792062	0.90453	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.85955	-2.05;-2.05	5.69	5.69	0.88448	Uncharacterised domain, di-copper centre (2);	0.045544	0.85682	D	0.000000	D	0.93903	0.8049	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93958	0.7238	9	.	.	.	-21.8694	19.8199	0.96589	0.0:1.0:0.0:0.0	.	168;168	Q09GT4;P40126	.;TYRP2_HUMAN	V	168	ENSP00000366227:G168V;ENSP00000392762:G168V	.	G	-	2	0	DCT	93919093	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	5.783000	0.68982	2.677000	0.91161	0.655000	0.94253	GGG	.		0.488	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95121092	C	A	95121092	3	1	31	1	0	0	0	0	1	0	0	0	4313	623	22	3	1191	3	DCT	13	95121092	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2775282	95121092	20048786	1694	7246											
HS6ST3	266722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	96743551	96743551	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatttcaacatcaaagggcgCgacgtgatcgtgttcctcca	10	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:96743551C>G	ENST00000376705.2	+	1	459	c.435C>G	c.(433-435)cgC>cgG	p.R145R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	145					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCAAAGGGCGCGACGTGATCG	0.612																																					p.R145R		.											.	HS6ST3-92	0			c.C435G						.						36	37	37					13																	96743551		2203	4300	6503	SO:0001819	synonymous_variant	266722	exon1			AGGGCGCGACGTG	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.435C>G	13.37:g.96743551C>G		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	122	38	NM_153456	0	0	0	0	0	Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	CCDS9481.1																																																																																			.		0.612	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		G	96743551	C	G	96743551	2	3	31	1	0	0	0	0	0	0	0	1	7399	755	27	2		2	HS6ST3	13	96743551	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1622459	96743551	18426327	1695	7247											
GPR183	1880	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	99948095	99948095	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagttatcctacacaagGcatctccgattctccagtca	7	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:99948095G>C	ENST00000376414.4	-	2	388	c.305C>G	c.(304-306)gCc>gGc	p.A102G	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	102					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CCTACACAAGGCATCTCCGAT	0.428																																					p.A102G		.											.	GPR183-522	0			c.C305G						.						149	125	133					13																	99948095		2203	4300	6503	SO:0001583	missense	1880	exon2			CACAAGGCATCTC	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.305C>G	13.37:g.99948095G>C	ENSP00000365596:p.Ala102Gly	Somatic	218	2		WXS	Illumina GAIIx	Phase_I	129	37	NM_004951	0	0	0	0	0	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	G	7.634	0.679402	0.14907	.	.	ENSG00000169508	ENST00000376414	T	0.73897	-0.79	5.81	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.242636	0.40728	N	0.001023	T	0.57417	0.2052	N	0.17312	0.475	0.21105	N	0.999787	B	0.12013	0.005	B	0.14023	0.01	T	0.40021	-0.9585	9	.	.	.	.	13.3187	0.60421	0.0676:0.1225:0.8098:0.0	.	102	P32249	GP183_HUMAN	G	102	ENSP00000365596:A102G	.	A	-	2	0	GPR183	98746096	0.980000	0.34600	0.652000	0.29579	0.582000	0.36321	3.073000	0.50057	1.459000	0.47892	0.655000	0.94253	GCC	.		0.428	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		C	99948095	G	C	99948095	3	2	31	1	0	0	0	0	1	0	0	0	6704	1203	42	3	784	3	GPR183	13	99948095	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3204544	99948095	15221783	1696	7248											
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	101736110	101736110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatcttcagtcggctctTcaggtcttcccatcttctct	7	14	7	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101736110T>G	ENST00000251127.6	-	31	3616	c.3535A>C	c.(3535-3537)Aag>Cag	p.K1179Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1179					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTCGGCTCTTCAGGTCTTCC	0.502																																					p.K1179Q		.											.	NALCN-167	0			c.A3535C						.						76	74	75					13																	101736110		2203	4300	6503	SO:0001583	missense	259232	exon31			GGCTCTTCAGGTC	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3535A>C	13.37:g.101736110T>G	ENSP00000251127:p.Lys1179Gln	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	30	7	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222512	0.79464	.	.	ENSG00000102452	ENST00000251127	D	0.97752	-4.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.64170	1.965	0.80722	D	1	P	0.39094	0.659	P	0.48654	0.585	D	0.97769	1.0225	10	0.59425	D	0.04	.	13.6686	0.62412	0.0:0.0:0.0:1.0	.	1179	Q8IZF0	NALCN_HUMAN	Q	1179	ENSP00000251127:K1179Q	ENSP00000251127:K1179Q	K	-	1	0	NALCN	100534111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	1.977000	0.57605	0.528000	0.53228	AAG	.		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		G	101736110	T	G	101736110	3	3	31	1	0	0	0	0	1	0	0	0	10186	1792	62	5	1737	5	NALCN	13	101736110	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1788015	101736110	13433768	1697	7249											
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	101755576	101755576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgaacaactttcctcatctGgggcaccagtttgaatatgc	8	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101755576G>T	ENST00000251127.6	-	26	3085	c.3004C>A	c.(3004-3006)Cag>Aag	p.Q1002K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1002					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCCTCATCTGGGGCACCAGT	0.453																																					p.Q1002K		.											.	NALCN-167	0			c.C3004A						.						102	104	103					13																	101755576		2203	4300	6503	SO:0001583	missense	259232	exon26			TCATCTGGGGCAC	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3004C>A	13.37:g.101755576G>T	ENSP00000251127:p.Gln1002Lys	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	51	16	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264963	0.40095	.	.	ENSG00000102452	ENST00000251127	D	0.98280	-4.84	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	N	0.02011	-0.69	0.80722	D	1	B	0.20887	0.049	B	0.22880	0.042	D	0.89235	0.3580	10	0.02654	T	1	.	18.7562	0.91833	0.0:0.0:1.0:0.0	.	1002	Q8IZF0	NALCN_HUMAN	K	1002	ENSP00000251127:Q1002K	ENSP00000251127:Q1002K	Q	-	1	0	NALCN	100553577	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.287000	0.95975	2.488000	0.83962	0.650000	0.86243	CAG	.		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101755576	G	T	101755576	3	4	31	1	0	0	0	0	1	0	0	0	10186	1357	47	3	2288	3	NALCN	13	101755576	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	19466	101755576	13414302	1698	7250											
NALCN	259232	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	101757250	101757250	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgatgcttactaaagTtgatggtactttgtattttt	10	3	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101757250T>A	ENST00000251127.6	-	23	2712	c.2631A>T	c.(2629-2631)caA>caT	p.Q877H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	877					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTACTAAAGTTGATGGTACT	0.313																																					p.Q877H		.											.	NALCN-167	0			c.A2631T						.						172	177	176					13																	101757250		2203	4300	6503	SO:0001583	missense	259232	exon23			CTAAAGTTGATGG	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2631A>T	13.37:g.101757250T>A	ENSP00000251127:p.Gln877His	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	87	31	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945749	0.73672	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	5.85	0.614	0.17603	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.55749	0.783	D	0.94171	0.7423	10	0.66056	D	0.02	.	10.6589	0.45690	0.0:0.343:0.0:0.657	.	877	Q8IZF0	NALCN_HUMAN	H	877	ENSP00000251127:Q877H	ENSP00000251127:Q877H	Q	-	3	2	NALCN	100555251	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.118000	0.15605	0.140000	0.18849	0.533000	0.62120	CAA	.		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101757250	T	A	101757250	3	1	31	1	0	0	0	0	1	0	0	0	10186	1722	60	5	2673	5	NALCN	13	101757250	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1674	101757250	13412628	1699	7251											
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	102029346	102029346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatcataatcagtggcCgtggaatccgcaacatgccc	10	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:102029346C>A	ENST00000251127.6	-	5	518	c.437G>T	c.(436-438)cGg>cTg	p.R146L	NALCN_ENST00000376200.5_Missense_Mutation_p.R146L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398																																					p.R146L		.											.	NALCN-167	0			c.G437T						.						74	73	74					13																	102029346		2203	4300	6503	SO:0001583	missense	259232	exon5			AGTGGCCGTGGAA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.437G>T	13.37:g.102029346C>A	ENSP00000251127:p.Arg146Leu	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	91	19	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309632	0.81247	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98437	-4.93;-4.93;-4.93	4.92	4.92	0.64577	Ion transport (1);	0.070386	0.64402	D	0.000020	D	0.99242	0.9736	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99069	1.0833	10	0.87932	D	0	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	146;146	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	146	ENSP00000251127:R146L;ENSP00000365367:R146L;ENSP00000365373:R146L	ENSP00000251127:R146L	R	-	2	0	NALCN	100827347	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	CGG	.		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	102029346	C	A	102029346	3	1	31	1	0	0	0	0	1	0	0	0	10186	652	23	2	4939	2	NALCN	13	102029346	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	272096	102029346	13140532	1700	7252											
TPP2	7174	bcgsc.ca	37	chr13	103268776	103268776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaaaatctgggaccctGttcacagagtggcccttgca	11	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103268776G>T	ENST00000376065.4	+	4	457	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F	TPP2_ENST00000376052.3_Missense_Mutation_p.V141F	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	141	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGGACCCTGTTCACAGAGT	0.408																																					p.V141F		.											.	TPP2-92	0			c.G421T						.						94	102	99					13																	103268776		2203	4300	6503	SO:0001583	missense	7174	exon4			GACCCTGTTCACA	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.421G>T	13.37:g.103268776G>T	ENSP00000365233:p.Val141Phe	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_003291	0	0	0	0	0	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	6.718	0.501170	0.12822	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.64	4.79	0.61399	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.472269	0.22995	N	0.053146	T	0.21761	0.0524	N	0.14661	0.345	0.27787	N	0.942964	B	0.11235	0.004	B	0.10450	0.005	T	0.20538	-1.0272	9	0.10111	T	0.7	.	7.5128	0.27583	0.1479:0.1372:0.7149:0.0	.	141	P29144	TPP2_HUMAN	F	141	.	ENSP00000365220:V141F	V	+	1	0	TPP2	102066777	0.584000	0.26766	1.000000	0.80357	0.967000	0.64934	0.217000	0.17603	1.494000	0.48533	0.650000	0.86243	GTT	.		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			T	103268776	G	T	103268776	3	4	31	1	0	0	0	0	1	0	0	0	16460	1377	48	3	435	3	TPP2	13	103268776	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1239430	103268776	11901102	1701	7253											
SLC10A2	6555	ucsc.edu;bcgsc.ca	37	chr13	103701772	103701772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgtgttctgcatcccCgtttcaaaagcaaccgttcg	9	13	2	0	rs201412654		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103701772C>T	ENST00000245312.3	-	5	1382	c.786G>A	c.(784-786)acG>acA	p.T262T		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	262			T -> M (in PBAM; abolishes taurocholate transport; dbSNP:rs72547505). {ECO:0000269|PubMed:9109432}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TCTGCATCCCCGTTTCAAAAG	0.418																																					p.T262T		.											.	SLC10A2-94	0			c.G786A						.						124	94	104					13																	103701772		2203	4300	6503	SO:0001819	synonymous_variant	6555	exon5			CATCCCCGTTTCA	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.786G>A	13.37:g.103701772C>T		Somatic	132	2		WXS	Illumina GAIIx	Phase_I	80	17	NM_000452	0	0	0	0	0	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																			.		0.418	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			T	103701772	C	T	103701772	2	4	31	1	0	0	0	0	0	0	0	1	14419	639	23	1		1	SLC10A2	13	103701772	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	432996	103701772	11468106	1702	7254											
COL4A1	1282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	110850953	110850953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagggaagccaggggcAccagcctgcccaggtacagg	14	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:110850953A>G	ENST00000375820.4	-	21	1267	c.1146T>C	c.(1144-1146)ggT>ggC	p.G382G	COL4A1_ENST00000543140.1_Silent_p.G382G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	382	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)			AGCCAGGGGCACCAGCCTGCC	0.552																																					p.G382G		.											.	COL4A1-654	0			c.T1146C						.						66	63	64					13																	110850953		2203	4300	6503	SO:0001819	synonymous_variant	1282	exon21			AGGGGCACCAGCC	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.1146T>C	13.37:g.110850953A>G		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	38	12	NM_001845	0	0	0	0	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			.		0.552	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			G	110850953	A	G	110850953	2	3	31	1	0	0	0	0	0	0	0	1	3696	146	6	4		4	COL4A1	13	110850953	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	7149181	110850953	4318925	1703	7255											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005537	0	0	0	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	31	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	517363	111368316	3801562	1704	7256											
ATP11A	23250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	113508734	113508734	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaacacgcagctgctGgagctgaccaccaagaggat	13	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:113508734G>C	ENST00000487903.1	+	19	2221	c.2133G>C	c.(2131-2133)ctG>ctC	p.L711L	ATP11A_ENST00000375645.3_Silent_p.L711L|ATP11A_ENST00000375630.2_Silent_p.L711L|ATP11A_ENST00000283558.8_Silent_p.L711L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	711					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)				CGCAGCTGCTGGAGCTGACCA	0.632																																					p.L711L		.											.	ATP11A-138	0			c.G2133C						.						65	60	61					13																	113508734		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon19			GCTGCTGGAGCTG	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.2133G>C	13.37:g.113508734G>C		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	100	23	NM_032189	0	0	0	0	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	8.889	0.953559	0.18431	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-9.69	0.00524	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47959	-0.9076	4	.	.	.	.	4.8373	0.13471	0.1254:0.0926:0.4572:0.3249	.	.	.	.	S	686	.	.	W	+	2	0	ATP11A	112556735	0.001000	0.12720	0.105000	0.21289	0.982000	0.71751	-2.899000	0.00705	-2.420000	0.00564	-0.311000	0.09066	TGG	.		0.632	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		C	113508734	G	C	113508734	2	2	31	1	0	0	0	0	0	0	0	1	1120	1335	47	3		3	ATP11A	13	113508734	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2140418	113508734	1661144	1705	7257											
PCID2	55795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	113839829	113839829	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttaaacagctggttcacCagaaacagcatgccccactt	6	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:113839829C>A	ENST00000337344.4	-	8	589	c.513G>T	c.(511-513)ctG>ctT	p.L171L	PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGGTTCACCAGAAACAGCA	0.353																																					p.L225L		.											.	PCID2-90	0			c.G675T						.						125	122	123					13																	113839829		2203	4300	6503	SO:0001819	synonymous_variant	55795	exon8			GTTCACCAGAAAC	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.513G>T	13.37:g.113839829C>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	42	9	NM_001258212	0	0	0	0	0	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	CCDS9532.2																																																																																			.		0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		A	113839829	C	A	113839829	2	1	31	1	0	0	0	0	0	0	0	1	11618	581	21	3		3	PCID2	13	113839829	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	331095	113839829	1330049	1706	7258											
GRK1	6011	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	114322346	114322346	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggcgaccggcaagctGtatgcctgcaagaagctgaa	13	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:114322346G>T	ENST00000335678.6	+	1	877	c.645G>T	c.(643-645)ctG>ctT	p.L215L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCGGCAAGCTGTATGCCTGCA	0.642																																					p.L215L		.											.	GRK1-614	0			c.G645T						.						16	19	18					13																	114322346		2107	4229	6336	SO:0001819	synonymous_variant	6011	exon1			CAAGCTGTATGCC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.645G>T	13.37:g.114322346G>T		Somatic	164	1		WXS	Illumina GAIIx	Phase_I	130	36	NM_002929	0	0	0	0	0	Q53X14	Silent	SNP	ENST00000335678.6	37																																																																																				.		0.642	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		T	114322346	G	T	114322346	2	4	31	1	0	0	0	0	0	0	0	1	6817	1364	48	3		3	GRK1	13	114322346	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	482517	114322346	847532	1707	7259											
OR11H12	440153	broad.mit.edu;bcgsc.ca	37	chr14	19378109	19378109	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtggatttctgtggttcctGatccccattgttctcatctc	8	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:19378109G>C	ENST00000550708.1	+	1	588	c.516G>C	c.(514-516)ctG>ctC	p.L172L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTTCCTGATCCCCATTG	0.478																																					p.L172L		.											.	OR11H12-24	0			c.G516C						.						109	119	115					14																	19378109		2176	4277	6453	SO:0001819	synonymous_variant	440153	exon1			GTTCCTGATCCCC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.516G>C	14.37:g.19378109G>C		Somatic	605	1		WXS	Illumina GAIIx	Phase_I	584	163	NM_001013354	0	0	0	0	0		Silent	SNP	ENST00000550708.1	37	CCDS32017.1																																																																																			.		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		C	19378109	G	C	19378109	2	2	31	1	0	0	0	0	0	0	0	1	10966	1277	45	3		3	OR11H12	14	19378109	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		19378109	87971431	1708	7260											
OR4N2	390429	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20296018	20296018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactatcctactgtcatgaaCcctagaacctgctatgcaat	5	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20296018C>A	ENST00000315947.1	+	1	411	c.411C>A	c.(409-411)aaC>aaA	p.N137K	OR4N2_ENST00000568211.1_Missense_Mutation_p.N137K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	137						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)		CTGTCATGAACCCTAGAACCT	0.537																																					p.N137K		.											.	OR4N2-71	0			c.C411A						.						211	224	219					14																	20296018		2203	4300	6503	SO:0001583	missense	390429	exon1			CATGAACCCTAGA		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.411C>A	14.37:g.20296018C>A	ENSP00000319601:p.Asn137Lys	Somatic	195	1		WXS	Illumina GAIIx	Phase_I	147	68	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	8.415	0.844991	0.16963	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.36878	1.23;1.23	4.53	-0.797	0.10909	GPCR, rhodopsin-like superfamily (1);	0.232405	0.30302	N	0.009930	T	0.30448	0.0765	M	0.68952	2.095	0.09310	N	1	B	0.18863	0.031	B	0.23018	0.043	T	0.29761	-1.0001	10	0.72032	D	0.01	-10.5832	4.7937	0.13261	0.1446:0.5005:0.0:0.3549	.	137	Q8NGD1	OR4N2_HUMAN	K	137	ENSP00000452022:N137K;ENSP00000319601:N137K	ENSP00000319601:N137K	N	+	3	2	OR4N2	19365858	0.000000	0.05858	0.827000	0.32855	0.600000	0.36913	-1.200000	0.03029	-0.038000	0.13624	-0.218000	0.12543	AAC	.		0.537	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296018	C	A	20296018	3	1	31	1	0	0	0	0	1	0	0	0	11116	506	18	3	413	3	OR4N2	14	20296018	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	917909	20296018	87053522	1709	7261											
OR11G2	390439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20665906	20665906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttctctggctgcttcctcCagttctactttttcttctcc	5	15	4	0	rs61106173|rs77997988|rs150549668	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20665906C>A	ENST00000357366.3	+	1	412	c.412C>A	c.(412-414)Cag>Aag	p.Q138K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGCTTCCTCCAGTTCTACTT	0.493																																					p.Q138K		.											.	OR11G2-70	0			c.C412A						.						63	59	61					14																	20665906		2203	4300	6503	SO:0001583	missense	390439	exon1			TTCCTCCAGTTCT		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.412C>A	14.37:g.20665906C>A	ENSP00000349930:p.Gln138Lys	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	67	38	NM_001005503	0	0	0	0	0	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.532543	0.85812	.	.	ENSG00000196832	ENST00000357366	T	0.02085	4.46	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.23649	0.0572	H	0.97732	4.065	0.40542	D	0.981036	D	0.89917	1.0	D	0.91635	0.999	T	0.44498	-0.9324	10	0.87932	D	0	.	17.0843	0.86606	0.0:1.0:0.0:0.0	.	138	Q8NGC1	O11G2_HUMAN	K	138	ENSP00000349930:Q138K	ENSP00000349930:Q138K	Q	+	1	0	OR11G2	19735746	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.766000	0.68843	2.565000	0.86533	0.650000	0.86243	CAG	.		0.493	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			A	20665906	C	A	20665906	3	1	31	1	0	0	0	0	1	0	0	0	10964	595	21	3	414	3	OR11G2	14	20665906	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	369888	20665906	86683634	1710	7262											
TEP1	7011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20845643	20845643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcctgaccctgagcccCctgggaacctagagaatgag	12	13	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20845643C>A	ENST00000262715.5	-	41	5924	c.5884G>T	c.(5884-5886)Ggg>Tgg	p.G1962W	TEP1_ENST00000545983.1_Missense_Mutation_p.G300W|TEP1_ENST00000556935.1_Missense_Mutation_p.G1854W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1962					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCTGAGCCCCCTGGGAACCT	0.587																																					p.G1962W		.											.	TEP1-95	0			c.G5884T						.						53	54	53					14																	20845643		2203	4300	6503	SO:0001583	missense	7011	exon41			GAGCCCCCTGGGA		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5884G>T	14.37:g.20845643C>A	ENSP00000262715:p.Gly1962Trp	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	54	30	NM_007110	0	0	0	0	0	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849082	0.32699	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.70399	0.73;-0.48;1.31	5.33	2.31	0.28768	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.101550	0.06719	N	0.774607	T	0.71375	0.3332	L	0.53561	1.675	0.27358	N	0.956042	B;D;B;D	0.61697	0.001;0.99;0.006;0.983	B;P;B;B	0.50378	0.001;0.639;0.007;0.436	T	0.55679	-0.8103	10	0.37606	T	0.19	-0.0223	6.8213	0.23859	0.0:0.5667:0.3353:0.098	.	300;1854;1305;1962	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	W	1962;1962;1854;300	ENSP00000262715:G1962W;ENSP00000452574:G1854W;ENSP00000438849:G300W	ENSP00000262715:G1962W	G	-	1	0	TEP1	19915483	0.001000	0.12720	0.158000	0.22627	0.919000	0.55068	-0.363000	0.07593	0.169000	0.19679	0.563000	0.77884	GGG	.		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20845643	C	A	20845643	3	1	31	1	0	0	0	0	1	0	0	0	15806	623	22	3	2059	3	TEP1	14	20845643	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	179737	20845643	86503897	1711	7263											
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23876252	23876252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcccattctcggtttcagCaatgaccttgcctccctccc	5	18	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:23876252C>G	ENST00000356287.3	-	2	210	c.181G>C	c.(181-183)Gct>Cct	p.A61P	MYH6_ENST00000405093.3_Missense_Mutation_p.A61P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	61					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCGGTTTCAGCAATGACCTTG	0.572																																					p.A61P		.											.	MYH6-94	0			c.G181C						.						248	248	248					14																	23876252		2203	4300	6503	SO:0001583	missense	4624	exon3			TTTCAGCAATGAC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.181G>C	14.37:g.23876252C>G	ENSP00000348634:p.Ala61Pro	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	87	59	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.538329	0.45176	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80393	-1.37;-1.37	3.53	3.53	0.40419	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.85995	0.5827	M	0.70275	2.135	0.38602	D	0.950683	P;P	0.44877	0.845;0.845	P;P	0.54100	0.742;0.742	D	0.89556	0.3803	9	0.87932	D	0	.	15.2325	0.73401	0.0:1.0:0.0:0.0	.	61;61	D9YZU2;P13533	.;MYH6_HUMAN	P	61	ENSP00000386041:A61P;ENSP00000348634:A61P	ENSP00000348634:A61P	A	-	1	0	MYH6	22946092	0.968000	0.33430	0.974000	0.42286	0.019000	0.09904	5.633000	0.67825	1.974000	0.57490	0.455000	0.32223	GCT	.		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23876252	C	G	23876252	3	3	31	1	0	0	0	0	1	0	0	0	10076	710	25	3	5786	3	MYH6	14	23876252	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3030609	23876252	83473288	1712	7264											
RNF31	55072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24617561	24617561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagccagatgagcaccAggttgctacagtcacactgg	14	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:24617561A>C	ENST00000324103.6	+	3	754	c.434A>C	c.(433-435)cAg>cCg	p.Q145P	RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000471700.2_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	145	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATGAGCACCAGGTTGCTACA	0.557																																					p.Q145P		.											.	RNF31-90	0			c.A434C						.						61	65	63					14																	24617561		2099	4216	6315	SO:0001583	missense	55072	exon3			AGCACCAGGTTGC	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.434A>C	14.37:g.24617561A>C	ENSP00000315112:p.Gln145Pro	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	115	57	NM_017999	0	0	0	0	0	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515564	0.44763	.	.	ENSG00000092098	ENST00000324103	T	0.45276	0.9	5.31	4.16	0.48862	PUB domain (1);	0.539485	0.19256	N	0.118788	T	0.17450	0.0419	N	0.08118	0	0.48511	D	0.999664	P	0.48911	0.917	B	0.38880	0.284	T	0.04103	-1.0977	10	0.59425	D	0.04	-25.4377	1.5578	0.02588	0.5512:0.1807:0.0961:0.172	.	145	Q96EP0	RNF31_HUMAN	P	145	ENSP00000315112:Q145P	ENSP00000315112:Q145P	Q	+	2	0	RNF31	23687401	0.264000	0.24093	0.996000	0.52242	0.983000	0.72400	2.395000	0.44459	2.243000	0.73865	0.533000	0.62120	CAG	.		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		C	24617561	A	C	24617561	3	2	31	1	0	0	0	0	1	0	0	0	13532	188	7	5	444	5	RNF31	14	24617561	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	741309	24617561	82731979	1713	7265											
C14orf126	112487	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	31926518	31926518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccgcgacgtccccatCggctgggcgaatttgcagcc	14	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:31926518C>T	ENST00000310850.4	-	1	198	c.82G>A	c.(82-84)Gat>Aat	p.D28N	DTD2_ENST00000356180.4_Missense_Mutation_p.D28N|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.D28N	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	28					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										ACGTCCCCATCGGCTGGGCGA	0.677																																					p.D28N		.											.	.	0			c.G82A						.						13	14	14					14																	31926518		2193	4293	6486	SO:0001583	missense	112487	exon1			CCCCATCGGCTGG	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.82G>A	14.37:g.31926518C>T	ENSP00000312224:p.Asp28Asn	Somatic	75	1		WXS	Illumina GAIIx	Phase_I	304	75	NM_080664	0	0	0	0	0	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083358	0.36758	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.44881	0.92;0.91;0.91	4.88	3.95	0.45737	D-Tyr tRNAtyr deacylase-like domain (2);	0.651684	0.15520	N	0.258097	T	0.40791	0.1131	L	0.57536	1.79	0.34591	D	0.715513	B	0.30281	0.275	B	0.24269	0.052	T	0.58059	-0.7703	10	0.59425	D	0.04	-11.7916	15.6583	0.77162	0.0:0.8505:0.1495:0.0	.	28	Q96FN9	DTD2_HUMAN	N	28	ENSP00000447056:D28N;ENSP00000312224:D28N;ENSP00000348503:D28N	ENSP00000312224:D28N	D	-	1	0	C14orf126;RP11-176H8.1	30996269	0.980000	0.34600	0.954000	0.39281	0.041000	0.13682	2.913000	0.48790	2.530000	0.85305	0.655000	0.94253	GAT	.		0.677	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		T	31926518	C	T	31926518	3	4	31	1	0	0	0	0	1	0	0	0	1748	884	31	1	436	1	C14orf126	14	31926518	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	7308957	31926518	75423022	1714	7266											
EAPP	55837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	35005309	35005309	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaagtttaccagttcccaGagaggataacttgtcctcca	7	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:35005309G>A	ENST00000250454.3	-	2	328	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	83					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)		CCAGTTCCCAGAGAGGATAAC	0.363																																					p.L83L		.											.	EAPP-91	0			c.C247T						.						81	72	75					14																	35005309		1810	4069	5879	SO:0001819	synonymous_variant	55837	exon2			TTCCCAGAGAGGA	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.247C>T	14.37:g.35005309G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	25	17	NM_018453	0	0	0	0	0	Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	37	CCDS41941.1																																																																																			.		0.363	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		A	35005309	G	A	35005309	2	1	31	1	0	0	0	0	0	0	0	1	4891	933	33	3		3	EAPP	14	35005309	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3078791	35005309	72344231	1715	7267											
FAM177A1	283635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	35548204	35548204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaagtaccaatatgccattGatgaatattatcggatgaag	8	6	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:35548204G>C	ENST00000382406.3	+	5	466	c.409G>C	c.(409-411)Gat>Cat	p.D137H	FAM177A1_ENST00000396472.1_Missense_Mutation_p.D137H|FAM177A1_ENST00000280987.4_Missense_Mutation_p.D160H			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	137										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						ATATGCCATTGATGAATATTA	0.373																																					p.D160H		.											.	FAM177A1-226	0			c.G478C						.						124	109	114					14																	35548204		2203	4300	6503	SO:0001583	missense	283635	exon4			GCCATTGATGAAT	BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 24"	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.409G>C	14.37:g.35548204G>C	ENSP00000371843:p.Asp137His	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	60	16	NM_173607	0	0	0	0	0	Q68CT2	Missense_Mutation	SNP	ENST00000382406.3	37	CCDS41944.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669500	0.67814	.	.	ENSG00000151327	ENST00000396472;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.94	5.94	0.96194	.	0.050311	0.85682	D	0.000000	D	0.83473	0.5262	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84679	0.0716	9	0.87932	D	0	.	18.5541	0.91077	0.0:0.0:1.0:0.0	.	160;137	Q8N128-2;Q8N128	.;F177A_HUMAN	H	137;137;160;105	.	ENSP00000280987:D160H	D	+	1	0	FAM177A1	34617955	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	9.471000	0.97696	2.820000	0.97059	0.650000	0.86243	GAT	.		0.373	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410816.1	NM_173607		C	35548204	G	C	35548204	3	2	31	1	0	0	0	0	1	0	0	0	5520	1290	45	3	492	3	FAM177A1	14	35548204	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	542895	35548204	71801336	1716	7268											
LRFN5	145581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	42356483	42356483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccctctctttcagcgaGctcaggtactagcaacctca	7	15	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:42356483G>C	ENST00000298119.4	+	3	1844	c.655G>C	c.(655-657)Gct>Cct	p.A219P	LRFN5_ENST00000554171.1_Missense_Mutation_p.A219P|LRFN5_ENST00000554120.1_Missense_Mutation_p.A219P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	219						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTTCAGCGAGCTCAGGTACT	0.443										HNSCC(30;0.082)																											p.A219P		.											.	LRFN5-97	0			c.G655C						.						76	75	76					14																	42356483		2203	4300	6503	SO:0001583	missense	145581	exon3			CAGCGAGCTCAGG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.655G>C	14.37:g.42356483G>C	ENSP00000298119:p.Ala219Pro	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	102	57	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998176	0.54147	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49432	0.78;0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000029	T	0.64746	0.2626	M	0.72479	2.2	0.58432	D	0.999996	D;D	0.64830	0.98;0.994	P;P	0.61201	0.865;0.885	T	0.60924	-0.7166	10	0.29301	T	0.29	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	219;219	G3V364;Q96NI6	.;LRFN5_HUMAN	P	219	ENSP00000298119:A219P;ENSP00000451897:A219P;ENSP00000451067:A219P	ENSP00000298119:A219P	A	+	1	0	LRFN5	41426233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.861000	0.87004	2.595000	0.87683	0.650000	0.86243	GCT	.		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		C	42356483	G	C	42356483	3	2	31	1	0	0	0	0	1	0	0	0	8976	971	34	3	657	3	LRFN5	14	42356483	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6808279	42356483	64993057	1717	7269											
LRFN5	145581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	42356830	42356830	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaatgcaacaagatcTctggtgtatgataacggaac	8	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:42356830T>A	ENST00000298119.4	+	3	2191	c.1002T>A	c.(1000-1002)tcT>tcA	p.S334S	LRFN5_ENST00000554171.1_Silent_p.S334S|LRFN5_ENST00000554120.1_Silent_p.S334S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	334	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAACAAGATCTCTGGTGTATG	0.463										HNSCC(30;0.082)																											p.S334S		.											.	LRFN5-97	0			c.T1002A						.						129	125	127					14																	42356830		2203	4300	6503	SO:0001819	synonymous_variant	145581	exon3			AAGATCTCTGGTG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1002T>A	14.37:g.42356830T>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	78	37	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	CCDS9678.1																																																																																			.		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42356830	T	A	42356830	2	1	31	1	0	0	0	0	0	0	0	1	8976	1538	54	5		5	LRFN5	14	42356830	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	347	42356830	64992710	1718	7270											
FSCB	84075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	44974595	44974595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtttcatctgcaggagcCtctatagctgctagaagctg	12	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:44974595C>A	ENST00000340446.4	-	1	1887	c.1596G>T	c.(1594-1596)gaG>gaT	p.E532D	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	532	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCAGGAGCCTCTATAGCTG	0.498																																					p.E532D		.											.	FSCB-587	0			c.G1596T						.						31	31	31					14																	44974595		2203	4299	6502	SO:0001583	missense	84075	exon1			AGGAGCCTCTATA	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1596G>T	14.37:g.44974595C>A	ENSP00000344579:p.Glu532Asp	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	35	22	NM_032135	0	0	0	0	0	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961798	0.34659	.	.	ENSG00000189139	ENST00000340446	T	0.12879	2.64	4.74	0.764	0.18465	.	.	.	.	.	T	0.24624	0.0597	L	0.49126	1.545	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.15607	-1.0431	9	0.27082	T	0.32	0.4568	8.9704	0.35903	0.0:0.6484:0.0:0.3516	.	532	Q5H9T9	FSCB_HUMAN	D	532	ENSP00000344579:E532D	ENSP00000344579:E532D	E	-	3	2	FSCB	44044345	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.166000	0.00575	0.184000	0.20083	0.603000	0.83216	GAG	.		0.498	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44974595	C	A	44974595	3	1	31	1	0	0	0	0	1	0	0	0	6090	680	24	3	885	3	FSCB	14	44974595	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2617765	44974595	62374945	1719	7271											
C14orf106	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45693590	45693590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagaggtgagcatttgttCcttttcaaggttagatattt	10	5	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:45693590C>T	ENST00000310806.4	-	11	2658	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	734					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AGCATTTGTTCCTTTTCAAGG	0.313																																					p.E734K		.											.	MIS18BP1-90	0			c.G2200A						.						72	74	73					14																	45693590		2203	4298	6501	SO:0001583	missense	55320	exon11			TTTGTTCCTTTTC	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2200G>A	14.37:g.45693590C>T	ENSP00000309790:p.Glu734Lys	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	41	24	NM_018353	0	0	0	0	0	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.811202	0.02798	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	-1.97	0.07503	.	1.191510	0.05620	N	0.579749	T	0.10508	0.0257	N	0.16903	0.455	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40079	-0.9582	10	0.17832	T	0.49	-1.7267	10.2608	0.43425	0.0:0.3927:0.0:0.6073	.	734	Q6P0N0	M18BP_HUMAN	K	734	ENSP00000309790:E734K	ENSP00000309790:E734K	E	-	1	0	MIS18BP1	44763340	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-0.881000	0.04179	-0.628000	0.05582	0.655000	0.94253	GAA	.		0.313	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			T	45693590	C	T	45693590	3	4	31	1	0	0	0	0	1	0	0	0	1743	864	30	3	1226	3	C14orf106	14	45693590	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	718995	45693590	61655950	1720	7272											
C14orf106	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45711445	45711445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taactttctgttgcgaagtcCcttctgttgtcctctcacta	6	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:45711445C>G	ENST00000310806.4	-	4	1393	c.935G>C	c.(934-936)gGg>gCg	p.G312A	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	312					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGCGAAGTCCCTTCTGTTGT	0.383																																					p.G312A		.											.	MIS18BP1-90	0			c.G935C						.						86	85	86					14																	45711445		2203	4300	6503	SO:0001583	missense	55320	exon4			GAAGTCCCTTCTG	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.935G>C	14.37:g.45711445C>G	ENSP00000309790:p.Gly312Ala	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	57	28	NM_018353	0	0	0	0	0	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045964	0.01997	.	.	ENSG00000129534	ENST00000310806	T	0.19105	2.17	4.97	-4.91	0.03085	.	2.034470	0.01883	N	0.037969	T	0.10380	0.0254	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21724	-1.0237	10	0.06099	T	0.92	4.7139	2.5569	0.04762	0.1238:0.2795:0.1216:0.4751	.	312	Q6P0N0	M18BP_HUMAN	A	312	ENSP00000309790:G312A	ENSP00000309790:G312A	G	-	2	0	MIS18BP1	44781195	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.399000	0.07250	-1.029000	0.03317	-0.293000	0.09583	GGG	.		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			G	45711445	C	G	45711445	3	3	31	1	0	0	0	0	1	0	0	0	1743	623	22	3	2519	3	C14orf106	14	45711445	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	17855	45711445	61638095	1721	7273											
MDGA2	161357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	47342647	47342647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctatctcacctatatgttgtCcatacatgtgataaaagaag	6	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:47342647C>G	ENST00000399232.2	-	14	2898	c.2534G>C	c.(2533-2535)gGa>gCa	p.G845A	MDGA2_ENST00000357362.3_Missense_Mutation_p.G616A|MDGA2_ENST00000399222.3_Missense_Mutation_p.G47A|MDGA2_ENST00000426342.1_Missense_Mutation_p.G616A|MDGA2_ENST00000439988.3_Missense_Mutation_p.G914A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATGTTGTCCATACATGTG	0.343																																					p.G914A		.											.	MDGA2-95	0			c.G2741C						.						114	108	110					14																	47342647		1839	4084	5923	SO:0001583	missense	161357	exon14			TGTTGTCCATACA	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2534G>C	14.37:g.47342647C>G	ENSP00000382178:p.Gly845Ala	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	33	16	NM_001113498	0	0	0	0	0	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.372277	0.82573	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000106	T	0.28200	0.0696	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.38735	-0.9647	10	0.87932	D	0	.	17.0556	0.86533	0.0:1.0:0.0:0.0	.	616;845	F6W3S7;Q7Z553	.;MDGA2_HUMAN	A	845;616;914;47;616	ENSP00000400011:G845A;ENSP00000405456:G616A;ENSP00000382178:G914A;ENSP00000382168:G47A;ENSP00000349925:G616A	ENSP00000349925:G616A	G	-	2	0	MDGA2	46412397	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.446000	0.82766	0.467000	0.42956	GGA	.		0.343	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		G	47342647	C	G	47342647	3	3	31	1	0	0	0	0	1	0	0	0	9445	855	30	3	352	3	MDGA2	14	47342647	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1631202	47342647	60006893	1722	7274											
ABHD12B	145447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	51355545	51355545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctttcatttcaaggatGcccagttgatgctattgtct	7	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:51355545G>A	ENST00000337334.2	+	9	719	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.C158Y|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.C128Y	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	235							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTCAAGGATGCCCAGTTGAT	0.373																																					p.C235Y		.											.	ABHD12B-153	0			c.G704A						.						127	108	114					14																	51355545		2203	4300	6503	SO:0001583	missense	145447	exon9			AAGGATGCCCAGT	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.704G>A	14.37:g.51355545G>A	ENSP00000336693:p.Cys235Tyr	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	31	18	NM_001206673	0	0	0	0	0	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	0.429	-0.904562	0.02453	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.21543	2.0;2.0;2.0	4.91	-2.21	0.06973	.	0.982181	0.08399	N	0.951703	T	0.05686	0.0149	N	0.01729	-0.75	0.18873	N	0.999983	B;B	0.12013	0.002;0.005	B;B	0.09377	0.004;0.002	T	0.38929	-0.9638	10	0.07482	T	0.82	-25.2882	4.9816	0.14168	0.0741:0.3035:0.4248:0.1976	.	235;158	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	Y	158;235;128	ENSP00000343951:C158Y;ENSP00000336693:C235Y;ENSP00000379101:C128Y	ENSP00000336693:C235Y	C	+	2	0	ABHD12B	50425295	0.000000	0.05858	0.866000	0.34008	0.994000	0.84299	-0.818000	0.04467	-0.530000	0.06349	0.643000	0.83706	TGC	.		0.373	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			A	51355545	G	A	51355545	3	1	31	1	0	0	0	0	1	0	0	0	77	1319	46	3	517	3	ABHD12B	14	51355545	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4012898	51355545	55993995	1723	7275											
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52485862	52485862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcagggtccacgcacCagcagaaaccagtgctgcca	10	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:52485862C>A	ENST00000216286.5	-	14	2944	c.2945G>T	c.(2944-2946)tGg>tTg	p.W982L	NID2_ENST00000541773.1_Missense_Mutation_p.W881L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	982	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)	p.W982*(1)		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)					GTCCACGCACCAGCAGAAACC	0.622																																					p.W982L		.											.	NID2-158	1	Substitution - Nonsense(1)	breast(1)	c.G2945T						.						66	50	56					14																	52485862		2203	4300	6503	SO:0001583	missense	22795	exon14			ACGCACCAGCAGA	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.2945G>T	14.37:g.52485862C>A	ENSP00000216286:p.Trp982Leu	Somatic	180	1		WXS	Illumina GAIIx	Phase_I	177	111	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173440	0.78452	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.81415	-1.49;-1.49	5.32	5.32	0.75619	Thyroglobulin type-1 (6);	0.173464	0.64402	D	0.000019	D	0.93090	0.7800	H	0.97103	3.94	0.58432	D	0.99999	D;P;D;D	0.67145	0.996;0.525;0.992;0.996	D;B;D;D	0.74023	0.982;0.182;0.94;0.982	D	0.92137	0.5717	10	0.25751	T	0.34	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	576;881;984;982	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	L	982;576;881;984	ENSP00000216286:W982L;ENSP00000443730:W881L	ENSP00000216286:W982L	W	-	2	0	NID2	51555612	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.830000	0.69324	2.880000	0.98712	0.655000	0.94253	TGG	.		0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52485862	C	A	52485862	3	1	31	1	0	0	0	0	1	0	0	0	10454	595	21	3	1218	3	NID2	14	52485862	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1130317	52485862	54863678	1724	7276											
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52486816	52486816	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccccataatatccgggttGacaacggcaggagaaggaac	11	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:52486816G>T	ENST00000216286.5	-	13	2754	c.2755C>A	c.(2755-2757)Caa>Aaa	p.Q919K	NID2_ENST00000541773.1_Missense_Mutation_p.Q818K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	919	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TATCCGGGTTGACAACGGCAG	0.458																																					p.Q919K		.											.	NID2-158	0			c.C2755A						.						127	114	119					14																	52486816		2203	4300	6503	SO:0001583	missense	22795	exon13			CGGGTTGACAACG	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.2755C>A	14.37:g.52486816G>T	ENSP00000216286:p.Gln919Lys	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	124	68	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.891|1.891	-0.455479|-0.455479	0.04540|0.04540	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	D;D|.	0.87809|.	-2.3;-2.3|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Thyroglobulin type-1 (1);EGF domain, merozoite surface protein 1-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.641922|.	0.17470|.	N|.	0.173131|.	T|.	0.38188|.	0.1031|.	N|N	0.10707|0.10707	0.03|0.03	0.35774|0.35774	D|D	0.821157|0.821157	B;B;P;B|.	0.42649|.	0.022;0.077;0.786;0.012|.	B;B;P;B|.	0.49799|.	0.038;0.02;0.622;0.069|.	T|.	0.47649|.	-0.9101|.	10|.	0.02654|.	T|.	1|.	.|.	14.184|14.184	0.65592|0.65592	0.0:0.0:0.8504:0.1496|0.0:0.0:0.8504:0.1496	.|.	513;818;921;919|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	K|X	919;513;818;921|187	ENSP00000216286:Q919K;ENSP00000443730:Q818K|.	ENSP00000216286:Q919K|.	Q|S	-|-	1|2	0|0	NID2|NID2	51556566|51556566	0.526000|0.526000	0.26298|0.26298	0.994000|0.994000	0.49952|0.49952	0.596000|0.596000	0.36781|0.36781	0.768000|0.768000	0.26590|0.26590	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	CAA|TCA	.		0.458	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52486816	G	T	52486816	3	4	31	1	0	0	0	0	1	0	0	0	10454	1299	45	3	1412	3	NID2	14	52486816	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	954	52486816	54862724	1725	7277											
ARID4A	5926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	58831980	58831980	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatgttgcctctggtacctGtagtataattgtacaagaga	9	6	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:58831980G>C	ENST00000355431.3	+	20	3546	c.3173G>C	c.(3172-3174)tGt>tCt	p.C1058S	ARID4A_ENST00000348476.3_Missense_Mutation_p.C1058S|ARID4A_ENST00000395168.3_Missense_Mutation_p.C1058S|ARID4A_ENST00000431317.2_Missense_Mutation_p.C1058S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1058					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTGGTACCTGTAGTATAATT	0.373																																					p.C1058S		.											.	ARID4A-231	0			c.G3173C						.						65	66	66					14																	58831980		2202	4294	6496	SO:0001583	missense	5926	exon20			GTACCTGTAGTAT	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3173G>C	14.37:g.58831980G>C	ENSP00000347602:p.Cys1058Ser	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	81	52	NM_002892	0	0	0	0	0	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	5.122	0.208060	0.09704	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.15603	2.69;2.76;2.82;2.76;2.41	5.46	5.46	0.80206	.	0.155438	0.52532	D	0.000074	T	0.23806	0.0576	N	0.17082	0.46	0.43137	D	0.994886	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.77557	0.99;0.977;0.917	T	0.01566	-1.1323	10	0.02654	T	1	-11.8046	19.3065	0.94164	0.0:0.0:1.0:0.0	.	1058;1058;1058	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	S	1058;1058;1058;1058;736	ENSP00000347602:C1058S;ENSP00000344556:C1058S;ENSP00000378597:C1058S;ENSP00000397368:C1058S;ENSP00000416053:C736S	ENSP00000344556:C1058S	C	+	2	0	ARID4A	57901733	1.000000	0.71417	0.200000	0.23457	0.856000	0.48823	4.693000	0.61753	2.574000	0.86865	0.557000	0.71058	TGT	.		0.373	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		C	58831980	G	C	58831980	3	2	31	1	0	0	0	0	1	0	0	0	919	1377	48	3	3247	3	ARID4A	14	58831980	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6345164	58831980	48517560	1726	7278											
C14orf39	317761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	60933637	60933637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaacagatattatacctGcaactcttggttctgaagaa	6	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:60933637G>T	ENST00000321731.3	-	10	1052	c.893C>A	c.(892-894)gCa>gAa	p.A298E		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	298					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TATTATACCTGCAACTCTTGG	0.284																																					p.A298E		.											.	C14orf39-94	0			c.C893A						.						67	66	66					14																	60933637		2199	4282	6481	SO:0001583	missense	317761	exon10			ATACCTGCAACTC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.893C>A	14.37:g.60933637G>T	ENSP00000324920:p.Ala298Glu	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_174978	0	0	0	0	0	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	g	0.540	-0.854211	0.02630	.	.	ENSG00000179008	ENST00000321731	T	0.22539	1.95	5.29	-0.458	0.12182	.	0.834953	0.10862	N	0.626015	T	0.08891	0.0220	N	0.22421	0.69	0.40447	D	0.980105	B	0.24426	0.103	B	0.25140	0.058	T	0.41787	-0.9489	10	0.02654	T	1	-7.1467	1.2592	0.01998	0.2867:0.1406:0.428:0.1447	.	298	Q8N1H7	S6OS1_HUMAN	E	298	ENSP00000324920:A298E	ENSP00000324920:A298E	A	-	2	0	C14orf39	60003390	0.585000	0.26774	0.907000	0.35723	0.013000	0.08279	-0.613000	0.05610	-0.267000	0.09325	-0.291000	0.09656	GCA	.		0.284	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		T	60933637	G	T	60933637	3	4	31	1	0	0	0	0	1	0	0	0	1777	1319	46	3	906	3	C14orf39	14	60933637	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2101657	60933637	46415903	1727	7279											
SYNE2	23224	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64691758	64691758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggcgaggaggagacagaGagcaggtaacggggctttac	18	6	0	2	rs559718346	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:64691758G>T	ENST00000344113.4	+	114	20657	c.20445G>T	c.(20443-20445)gaG>gaT	p.E6815D	SYNE2_ENST00000555022.1_Missense_Mutation_p.E693D|SYNE2_ENST00000441438.2_Missense_Mutation_p.E359D|SYNE2_ENST00000554805.1_Missense_Mutation_p.E598D|SYNE2_ENST00000458046.2_Missense_Mutation_p.E486D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6837D|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E6736*|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3471D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E3200D|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3200D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6815					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)		AGGAGACAGAGAGCAGGTAAC	0.488																																					p.E6837D		.											.	SYNE2-164	0			c.G20511T						.						78	76	76					14																	64691758		2203	4300	6503	SO:0001583	missense	23224	exon115			GACAGAGAGCAGG	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.20445G>T	14.37:g.64691758G>T	ENSP00000341781:p.Glu6815Asp	Somatic	162	2		WXS	Illumina GAIIx	Phase_I	463	138	NM_182914	0	0	0	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	58|58	31.481763|31.481763	0.99979|0.99979	.|.	.|.	ENSG00000054654|ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438|ENST00000554584;ENST00000261678	T;T;T;T;T;T;T;T;T|.	0.48201|.	0.82;4.12;0.82;4.17;4.12;3.76;3.27;2.96;2.78|.	6.17|6.17	1.8|1.8	0.24995|0.24995	.|.	0.637907|0.637907	0.14363|0.14363	N|N	0.324323|0.324323	T|.	0.09158|.	0.0226|.	N|N	0.00237|0.00237	-1.79|-1.79	0.34100|0.34100	D|D	0.661721|0.661721	B;B;B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.06405|.	0.0;0.001;0.001;0.001;0.0;0.001;0.002|.	T|.	0.39333|.	-0.9619|.	10|.	0.02654|0.02654	T|T	1|1	.|.	7.9588|7.9588	0.30060|0.30060	0.0:0.5546:0.2804:0.165|0.0:0.5546:0.2804:0.165	.|.	472;3200;359;486;1217;6815;6837|.	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2|.	.;.;.;.;.;SYNE2_HUMAN;.|.	D|X	6837;3200;6815;3471;3200;693;598;486;359|6736;6742	ENSP00000350719:E6837D;ENSP00000349969:E3200D;ENSP00000341781:E6815D;ENSP00000450831:E3471D;ENSP00000378249:E3200D;ENSP00000451009:E693D;ENSP00000450605:E598D;ENSP00000391937:E486D;ENSP00000396794:E359D|.	ENSP00000341781:E6815D|ENSP00000261678:E6742X	E|E	+|+	3|1	2|0	SYNE2|SYNE2	63761511|63761511	0.068000|0.068000	0.21057|0.21057	0.744000|0.744000	0.31058|0.31058	0.623000|0.623000	0.37688|0.37688	-0.399000|-0.399000	0.07250|0.07250	0.469000|0.469000	0.27268|0.27268	0.655000|0.655000	0.94253|0.94253	GAG|GAG	.		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64691758	G	T	64691758	3	4	31	1	0	0	0	0	1	0	0	0	15493	933	33	3	21010	3	SYNE2	14	64691758	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3758121	64691758	42657782	1728	7280											
AKAP5	9495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64935226	64935226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatccatgctttgcttcaaGagaagaaagaaagcagccaa	9	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:64935226G>C	ENST00000394718.4	+	2	492	c.114G>C	c.(112-114)aaG>aaC	p.K38N	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.K38N	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	38	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTTGCTTCAAGAGAAGAAAGA	0.473																																					p.K38N		.											.	AKAP5-226	0			c.G114C						.						52	54	53					14																	64935226		2203	4300	6503	SO:0001583	missense	9495	exon2			CTTCAAGAGAAGA	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.114G>C	14.37:g.64935226G>C	ENSP00000378207:p.Lys38Asn	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	276	41	NM_004857	0	0	0	0	0	A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421153	0.62622	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.50548	0.74;0.74	5.58	4.58	0.56647	.	0.000000	0.64402	D	0.000006	T	0.56171	0.1967	L	0.36672	1.1	0.34538	D	0.709911	D	0.89917	1.0	D	0.91635	0.999	T	0.66408	-0.5931	10	0.72032	D	0.01	-17.2737	10.6265	0.45510	0.1229:0.0:0.8771:0.0	.	38	P24588	AKAP5_HUMAN	N	38	ENSP00000378207:K38N;ENSP00000315615:K38N	ENSP00000315615:K38N	K	+	3	2	AKAP5	64004979	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.304000	0.51866	2.630000	0.89119	0.655000	0.94253	AAG	.		0.473	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			C	64935226	G	C	64935226	3	2	31	1	0	0	0	0	1	0	0	0	454	933	33	3	116	3	AKAP5	14	64935226	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	243468	64935226	42414314	1729	7281											
PLEKHG3	26030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	65209938	65209938	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctccaagtatgcctcCcgcgatgaggcacgccgagc	11	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:65209938C>G	ENST00000394691.1	+	17	3324	c.3177C>G	c.(3175-3177)tcC>tcG	p.S1059S	PLEKHG3_ENST00000247226.7_Silent_p.S1003S|PLEKHG3_ENST00000484731.2_Silent_p.S564S|PLEKHG3_ENST00000471182.2_Silent_p.S592S|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1059							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGTATGCCTCCCGCGATGAGG	0.726																																					p.S1003S		.											.	PLEKHG3-91	0			c.C3009G						.						27	33	31					14																	65209938		2198	4291	6489	SO:0001819	synonymous_variant	26030	exon15			TGCCTCCCGCGAT	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3177C>G	14.37:g.65209938C>G		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	111	24	NM_015549	0	0	0	0	0	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37																																																																																				.		0.726	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		G	65209938	C	G	65209938	2	3	31	1	0	0	0	0	0	0	0	1	12109	610	22	3		3	PLEKHG3	14	65209938	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	274712	65209938	42139602	1730	7282											
VTI1B	10490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	68120200	68120200	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgacttttgctcaagttttCacttgtgtttaccagctgag	8	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:68120200C>A	ENST00000554659.1	-	5	897	c.556G>T	c.(556-558)Gaa>Taa	p.E186*		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	186					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CTCAAGTTTTCACTTGTGTTT	0.333																																					p.E186X		.											.	VTI1B-90	0			c.G556T						.						73	71	72					14																	68120200		2203	4299	6502	SO:0001587	stop_gained	10490	exon5			AGTTTTCACTTGT	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.556G>T	14.37:g.68120200C>A	ENSP00000450731:p.Glu186*	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	50	8	NM_006370	0	0	0	0	0	O43547|Q96J28	Nonsense_Mutation	SNP	ENST00000554659.1	37	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	39	7.510855	0.98329	.	.	ENSG00000100568	ENST00000554659	.	.	.	5.14	5.14	0.70334	.	0.049531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	.	.	.	X	186	.	ENSP00000216456:E186X	E	-	1	0	VTI1B	67189953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.358000	0.66064	2.677000	0.91161	0.655000	0.94253	GAA	.		0.333	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			A	68120200	C	A	68120200	4	1	31	1	0	0	0	0	0	1	0	0	17285	835	29	3	150	3	VTI1B	14	68120200	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2910262	68120200	39229340	1731	7283											
SLC8A3	6547	ucsc.edu;bcgsc.ca	37	chr14	70515629	70515629	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagacggcgaagcaggcccaGccgtggcagtactctgtggg	17	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70515629G>C	ENST00000381269.2	-	7	3015	c.2262C>G	c.(2260-2262)ggC>ggG	p.G754G	SLC8A3_ENST00000534137.1_Silent_p.G751G|SLC8A3_ENST00000533541.1_Silent_p.G111G|SLC8A3_ENST00000394330.2_Silent_p.G111G|SLC8A3_ENST00000356921.2_Silent_p.G748G|SLC8A3_ENST00000216568.7_Silent_p.G125G|SLC8A3_ENST00000528359.1_Silent_p.G752G|SLC8A3_ENST00000357887.3_Silent_p.G752G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	754					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)		AGCAGGCCCAGCCGTGGCAGT	0.582																																					p.G754G		.											.	SLC8A3-225	0			c.C2262G						.						72	62	65					14																	70515629		2203	4300	6503	SO:0001819	synonymous_variant	6547	exon7			GGCCCAGCCGTGG	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.2262C>G	14.37:g.70515629G>C		Somatic	128	2		WXS	Illumina GAIIx	Phase_I	131	85	NM_183002	0	0	0	0	0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																			.		0.582	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			C	70515629	G	C	70515629	2	2	31	1	0	0	0	0	0	0	0	1	14753	958	34	3		3	SLC8A3	14	70515629	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2395429	70515629	36833911	1732	7284											
SLC8A3	6547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	70634023	70634023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttggcttgttctgctgCatgtttcttcaggatattgc	9	9	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70634023C>A	ENST00000381269.2	-	2	1870	c.1117G>T	c.(1117-1119)Gca>Tca	p.A373S	SLC8A3_ENST00000534137.1_Missense_Mutation_p.A373S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A373S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A373S|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A373S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	373					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)		TGTTCTGCTGCATGTTTCTTC	0.493																																					p.A373S		.											.	SLC8A3-225	0			c.G1117T						.						121	111	115					14																	70634023		2203	4300	6503	SO:0001583	missense	6547	exon2			CTGCTGCATGTTT	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.1117G>T	14.37:g.70634023C>A	ENSP00000370669:p.Ala373Ser	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	131	87	NM_183002	0	0	0	0	0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826720	0.71143	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35605	1.38;1.3;1.43;1.38;1.43	5.83	5.83	0.93111	.	0.060006	0.64402	D	0.000002	T	0.54695	0.1874	L	0.53617	1.68	0.80722	D	1	P;P;D;P	0.63046	0.915;0.862;0.992;0.877	P;P;P;P	0.62184	0.64;0.515;0.899;0.695	T	0.39272	-0.9622	10	0.32370	T	0.25	.	20.1242	0.97973	0.0:1.0:0.0:0.0	.	373;373;373;373	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	S	373	ENSP00000349392:A373S;ENSP00000370669:A373S;ENSP00000350560:A373S;ENSP00000436688:A373S;ENSP00000433531:A373S	ENSP00000349392:A373S	A	-	1	0	SLC8A3	69703776	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.811000	0.86092	2.744000	0.94065	0.643000	0.83706	GCA	.		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			A	70634023	C	A	70634023	3	1	31	1	0	0	0	0	1	0	0	0	14753	710	25	3	1805	3	SLC8A3	14	70634023	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	118394	70634023	36715517	1733	7285											
ADAM21	8747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	70926120	70926120	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtcacatgtctgccTtcctgagacctgcaatatga	8	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70926120T>A	ENST00000603540.1	+	2	2162	c.1904T>A	c.(1903-1905)cTt>cAt	p.L635H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L635H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	635	EGF-like.				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)		CATGTCTGCCTTCCTGAGACC	0.502																																					p.L635H		.											.	ADAM21-92	0			c.T1904A						.						152	134	140					14																	70926120		2203	4300	6503	SO:0001583	missense	8747	exon2			TCTGCCTTCCTGA	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.1904T>A	14.37:g.70926120T>A	ENSP00000474385:p.Leu635His	Somatic	435	1		WXS	Illumina GAIIx	Phase_I	397	180	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253007	0.22965	.	.	ENSG00000139985	ENST00000267499	T	0.01172	5.23	4.49	3.36	0.38483	.	0.844624	0.09626	U	0.776824	T	0.01124	0.0037	L	0.33189	0.99	0.29998	N	0.816283	B	0.18013	0.025	B	0.21151	0.033	T	0.37731	-0.9693	10	0.21014	T	0.42	.	3.6775	0.08298	0.2517:0.1031:0.0:0.6452	.	635	Q9UKJ8	ADA21_HUMAN	H	635	ENSP00000267499:L635H	ENSP00000267499:L635H	L	+	2	0	ADAM21	69995873	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	0.935000	0.28924	2.011000	0.59026	0.460000	0.39030	CTT	.		0.502	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			A	70926120	T	A	70926120	3	1	31	1	0	0	0	0	1	0	0	0	243	1609	56	5	1906	5	ADAM21	14	70926120	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	292097	70926120	36423420	1734	7286											
ADAM20	8748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	70990144	70990144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaaagcacaagcagccCcaggatgtagagtacagttt	9	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70990144C>A	ENST00000256389.3	-	2	1725	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	444	Cys-rich.				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)		ACAAGCAGCCCCAGGATGTAG	0.453																																					p.G494V		.											.	ADAM20-226	0			c.G1481T						.						124	125	125					14																	70990144		2203	4300	6503	SO:0001583	missense	8748	exon2			GCAGCCCCAGGAT	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.1481G>T	14.37:g.70990144C>A	ENSP00000256389:p.Gly494Val	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	120	43	NM_003814	0	0	0	0	0	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542554	0.45280	.	.	ENSG00000134007	ENST00000256389	T	0.14144	2.53	4.54	2.68	0.31781	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.36591	U	0.002516	T	0.50769	0.1635	H	0.98849	4.35	0.37893	D	0.930793	D	0.69078	0.997	D	0.76071	0.987	T	0.63305	-0.6667	10	0.87932	D	0	.	8.6206	0.33859	0.0:0.7652:0.1516:0.0832	.	444	O43506	ADA20_HUMAN	V	494	ENSP00000256389:G494V	ENSP00000256389:G494V	G	-	2	0	ADAM20	70059897	0.005000	0.15991	0.066000	0.19879	0.004000	0.04260	1.126000	0.31344	0.439000	0.26476	-0.259000	0.10710	GGG	.		0.453	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			A	70990144	C	A	70990144	3	1	31	1	0	0	0	0	1	0	0	0	242	623	22	3	853	3	ADAM20	14	70990144	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	64024	70990144	36359396	1735	7287											
SIPA1L1	26037	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	72128143	72128143	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccagcacgttttcgtcatCgtcagggtgcacaatccgtg	10	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:72128143C>A	ENST00000555818.1	+	7	2562	c.2214C>A	c.(2212-2214)atC>atA	p.I738I	SIPA1L1_ENST00000358550.2_Silent_p.I738I|SIPA1L1_ENST00000537413.1_Silent_p.I213I|SIPA1L1_ENST00000381232.3_Silent_p.I738I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	738	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTCGTCATCGTCAGGGTGC	0.493																																					p.I738I		.											.	SIPA1L1-156	0			c.C2214A						.						168	139	148					14																	72128143		2203	4300	6503	SO:0001819	synonymous_variant	26037	exon7			CGTCATCGTCAGG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2214C>A	14.37:g.72128143C>A		Somatic	76	1		WXS	Illumina GAIIx	Phase_I	52	35	NM_015556	0	0	0	0	0	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																			.		0.493	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72128143	C	A	72128143	2	1	31	1	0	0	0	0	0	0	0	1	14374	874	31	2		2	SIPA1L1	14	72128143	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1137999	72128143	35221397	1736	7288											
PAPLN	89932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	73711367	73711367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggctcccaaggtgaggCggcagagtgacacctgggga	17	10	0	3	rs377339624		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:73711367C>A	ENST00000554301.1	+	2	233	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	PAPLN_ENST00000381166.3_Silent_p.R24R|PAPLN_ENST00000555445.1_Silent_p.R24R|RNU6-419P_ENST00000517030.1_RNA|RP4-647C14.2_ENST00000554614.1_RNA|PAPLN_ENST00000427855.1_Silent_p.R24R|PAPLN_ENST00000340738.5_Silent_p.R24R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	24						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAAGGTGAGGCGGCAGAGTGA	0.647																																					p.R24R		.											.	PAPLN-70	0			c.C70A						.						16	14	15					14																	73711367		2184	4289	6473	SO:0001819	synonymous_variant	89932	exon3			GTGAGGCGGCAGA	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.70C>A	14.37:g.73711367C>A		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	140	85	NM_173462	0	0	0	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																				.		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		A	73711367	C	A	73711367	2	1	31	1	0	0	0	0	0	0	0	1	11467	759	27	2		2	PAPLN	14	73711367	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1583224	73711367	33638173	1737	7289											
NUMB	8650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	73750814	73750814	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttaatggggaaatcagtCttcctctgcatagtggaagg	11	6	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:73750814C>T	ENST00000355058.3	-	10	1202	c.924G>A	c.(922-924)aaG>aaA	p.K308K	NUMB_ENST00000535282.1_Silent_p.K297K|NUMB_ENST00000557597.1_Silent_p.K297K|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Silent_p.K308K|NUMB_ENST00000554546.1_Silent_p.K297K|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000555238.1_Silent_p.K308K|NUMB_ENST00000359560.3_Silent_p.K297K|NUMB_ENST00000356296.4_Silent_p.K308K|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000556772.1_Silent_p.K164K			P49757	NUMB_HUMAN	numb homolog (Drosophila)	308					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGAAATCAGTCTTCCTCTGCA	0.458																																					p.K308K		.											.	NUMB-1062	0			c.G924A						.						135	120	125					14																	73750814		2203	4300	6503	SO:0001819	synonymous_variant	8650	exon10			ATCAGTCTTCCTC	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.924G>A	14.37:g.73750814C>T		Somatic	195	0		WXS	Illumina GAIIx	Phase_I	187	41	NM_001005744	0	0	0	0	0	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																			.		0.458	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			T	73750814	C	T	73750814	2	4	31	1	0	0	0	0	0	0	0	1	10790	912	32	3		3	NUMB	14	73750814	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	39447	73750814	33598726	1738	7290											
LTBP2	4053	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	75018960	75018960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaaggccctggggcgGgaccccctccctggaggctc	14	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:75018960G>A	ENST00000261978.4	-	6	1715	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	LTBP2_ENST00000556690.1_Silent_p.S443S|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	443					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCTGGGGCGGGACCCCCTCC	0.687																																					p.S443S		.											.	LTBP2-92	0			c.C1329T						.						26	28	27					14																	75018960		2201	4298	6499	SO:0001819	synonymous_variant	4053	exon6			GGGGCGGGACCCC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1329C>T	14.37:g.75018960G>A		Somatic	134	2		WXS	Illumina GAIIx	Phase_I	168	122	NM_000428	0	0	0	0	0	Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																			.		0.687	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	75018960	G	A	75018960	2	1	31	1	0	0	0	0	0	0	0	1	9109	1219	43	3		3	LTBP2	14	75018960	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1268146	75018960	32330580	1739	7291											
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76149969	76149969	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcttactgcgcaccctctCtgaagcacaaaaagttaatc	5	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:76149969C>T	ENST00000298832.9	+	5	546	c.341C>T	c.(340-342)tCt>tTt	p.S114F	TTLL5_ENST00000557636.1_Missense_Mutation_p.S114F|TTLL5_ENST00000556977.1_Missense_Mutation_p.S114F|TTLL5_ENST00000286650.5_Missense_Mutation_p.S114F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	114	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGCACCCTCTCTGAAGCACAA	0.468																																					p.S114F		.											.	TTLL5-92	0			c.C341T						.						155	133	141					14																	76149969		2203	4300	6503	SO:0001583	missense	23093	exon5			CCCTCTCTGAAGC	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.341C>T	14.37:g.76149969C>T	ENSP00000298832:p.Ser114Phe	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	122	28	NM_015072	0	0	0	0	0	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464734	0.84425	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.07800	3.94;3.16;4.03	5.53	5.53	0.82687	.	0.301114	0.37623	N	0.002011	T	0.10594	0.0259	L	0.27975	0.815	0.80722	D	1	B;B;P	0.44478	0.23;0.272;0.836	B;B;P	0.44477	0.064;0.105;0.451	T	0.03493	-1.1031	10	0.59425	D	0.04	.	18.2244	0.89913	0.0:1.0:0.0:0.0	.	114;114;114	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	F	114	ENSP00000450713:S114F;ENSP00000286650:S114F;ENSP00000298832:S114F	ENSP00000286650:S114F	S	+	2	0	TTLL5	75219722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.442000	0.59988	2.595000	0.87683	0.655000	0.94253	TCT	.		0.468	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		T	76149969	C	T	76149969	3	4	31	1	0	0	0	0	1	0	0	0	16779	913	32	3	355	3	TTLL5	14	76149969	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1131009	76149969	31199571	1740	7292											
NRXN3	9369	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	79175583	79175583	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttataagaataatgacatCcgtctggagctgtctcgcct	9	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:79175583C>T	ENST00000554719.1	+	4	617	c.126C>T	c.(124-126)atC>atT	p.I42I	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.I42I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATAATGACATCCGTCTGGAGC	0.473																																					p.I42I		.											.	NRXN3-587	0			c.C126T						.						77	79	78					14																	79175583		2203	4300	6503	SO:0001819	synonymous_variant	9369	exon4			TGACATCCGTCTG	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.126C>T	14.37:g.79175583C>T		Somatic	89	1		WXS	Illumina GAIIx	Phase_I	62	36	NM_004796	0	0	0	0	0	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	CCDS9870.1																																																																																			.		0.473	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		T	79175583	C	T	79175583	2	4	31	1	0	0	0	0	0	0	0	1	10706	845	30	3		3	NRXN3	14	79175583	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3025614	79175583	28173957	1741	7293											
PTPN21	11099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	88971713	88971713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgatcaaagtcaccaaaatCcgctatatagaatgacaaac	5	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:88971713C>A	ENST00000556564.1	-	5	735	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	PTPN21_ENST00000328736.3_Missense_Mutation_p.D151Y|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	151	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TCACCAAAATCCGCTATATAG	0.333																																					p.D151Y		.											.	PTPN21-230	0			c.G451T						.						86	91	89					14																	88971713		2203	4300	6503	SO:0001583	missense	11099	exon5			CAAAATCCGCTAT	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.451G>T	14.37:g.88971713C>A	ENSP00000452414:p.Asp151Tyr	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	123	8	NM_007039	0	0	0	0	0		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057208	0.76074	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.32988	1.43;1.43;1.43	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.067817	0.64402	D	0.000018	T	0.59609	0.2206	M	0.79258	2.445	0.58432	D	0.999992	D;D	0.89917	0.993;1.0	D;D	0.97110	0.935;1.0	T	0.64179	-0.6468	10	0.87932	D	0	.	19.0658	0.93110	0.0:1.0:0.0:0.0	.	151;151	G3V3S6;Q16825	.;PTN21_HUMAN	Y	151	ENSP00000330276:D151Y;ENSP00000452414:D151Y;ENSP00000451401:D151Y	ENSP00000330276:D151Y	D	-	1	0	PTPN21	88041466	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.180000	0.77674	2.567000	0.86603	0.655000	0.94253	GAT	.		0.333	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			A	88971713	C	A	88971713	3	1	31	1	0	0	0	0	1	0	0	0	12831	855	30	3	3133	3	PTPN21	14	88971713	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9796130	88971713	18377827	1742	7294											
SERPINA4	5267	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95030148	95030149	+	Missense_Mutation	DNP	CC	CC	AG													gggcctgggcttcaacctcaCcgagctgtctgagtccgatg					rs141308668		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|C	|C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95030148_95030149CC>AG	ENST00000557004.1	+	2	750_751	c.329_330CC>AG	c.(328-330)aCC>aAG	p.T110K	SERPINA4_ENST00000298841.5_Missense_Mutation_p.T110K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.T110K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	110					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCAACCTCACCGAGCTGTCTG	0.639																																					p.T110N|p.T110T		.											.	SERPINA4-230	0			c.C329A|c.C330G						.																																			SO:0001583	missense	5267	exon2			ACCTCACCGAGCT|CCTCACCGAGCTG	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	Exception_encountered	14.37:g.95030148_95030149delinsAG	ENSP00000450838:p.Thr110Lys	Somatic	72	1|0		WXS	Illumina GAIIx	Phase_I	77|78	35|36	NM_006215	0	0	0	0	0	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation|Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																			.|C|1.000;T|0.000		0.639	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		AG	95030149	CC	AG	95030148	3	1	31	1	0	0	0	0	1	0	0	0	14136	507	18	3	331	3	SERPINA4	14	95030148	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	6058435	95030148	12319392	1743	7295											
SERPINA5	5104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	95054239	95054239	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattatgtggcaaagcaaacGaagggcaagattgtggactt	13	5	0	1	rs146244413		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95054239G>A	ENST00000554866.1	+	2	654	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_ENST00000329597.7_Silent_p.T180T|SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	180					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T180T(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGCAAACGAAGGGCAAGA	0.483																																					p.T180T		.											.	SERPINA5-652	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G540A						.						129	114	119					14																	95054239		2203	4300	6503	SO:0001819	synonymous_variant	5104	exon3			GCAAACGAAGGGC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.540G>A	14.37:g.95054239G>A		Somatic	403	1		WXS	Illumina GAIIx	Phase_I	353	233	NM_000624	0	0	0	0	0	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																			G|0.999;A|0.001		0.483	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		A	95054239	G	A	95054239	2	1	31	1	0	0	0	0	0	0	0	1	14137	1045	37	1		1	SERPINA5	14	95054239	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24091	95054239	12295301	1744	7296											
C14orf49	161176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95916424	95916424	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgcggcattgcgcagcctCgcgctcttcaccttcaggct	11	17	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95916424C>T	ENST00000334258.5	-	7	1307	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	SYNE3_ENST00000554873.1_Silent_p.A188A|SYNE3_ENST00000553340.1_Silent_p.A431A|SYNE3_ENST00000557275.1_Silent_p.A431A	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	431					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TGCGCAGCCTCGCGCTCTTCA	0.642																																					p.A431A		.											.	.	0			c.G1293A						.						13	14	13					14																	95916424		2202	4293	6495	SO:0001819	synonymous_variant	161176	exon7			CAGCCTCGCGCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1293G>A	14.37:g.95916424C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	179	36	NM_152592	0	0	0	0	0	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																			.		0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		T	95916424	C	T	95916424	2	4	31	1	0	0	0	0	0	0	0	1	1781	871	31	1		1	C14orf49	14	95916424	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	862185	95916424	11433116	1745	7297											
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	96813577	96813577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttccagtgcacaattatcCtgcagtaaagagccccatgg	8	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:96813577C>A	ENST00000359933.4	-	2	1157	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	88					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACAATTATCCTGCAGTAAAG	0.443																																					p.Q88H		.											.	ATG2B-93	0			c.G264T						.						102	103	102					14																	96813577		1947	4153	6100	SO:0001583	missense	55102	exon2			ATTATCCTGCAGT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.264G>T	14.37:g.96813577C>A	ENSP00000353010:p.Gln88His	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	71	46	NM_018036	0	0	0	0	0	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560331	0.45590	.	.	ENSG00000066739	ENST00000359933	D	0.82803	-1.65	5.39	3.22	0.36961	.	0.081159	0.50627	U	0.000119	T	0.73682	0.3618	L	0.27053	0.805	0.45528	D	0.998489	B	0.26512	0.151	B	0.27170	0.077	T	0.73525	-0.3955	10	0.66056	D	0.02	.	12.8757	0.57989	0.0:0.8445:0.0:0.1555	.	88	Q96BY7	ATG2B_HUMAN	H	88	ENSP00000353010:Q88H	ENSP00000353010:Q88H	Q	-	3	2	ATG2B	95883330	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.580000	0.46068	1.281000	0.44480	0.561000	0.74099	CAG	.		0.443	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		A	96813577	C	A	96813577	3	1	31	1	0	0	0	0	1	0	0	0	1095	680	24	3	6136	3	ATG2B	14	96813577	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	897153	96813577	10535963	1746	7298											
PAPOLA	10914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	97029218	97029218	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcagacagcggcttctctGttggcctctcaggtactaag	10	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:97029218G>C	ENST00000216277.8	+	21	2350	c.2130G>C	c.(2128-2130)ctG>ctC	p.L710L	PAPOLA_ENST00000392990.2_Silent_p.L689L	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	710	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CGGCTTCTCTGTTGGCCTCTC	0.403																																					p.L710L	NSCLC(19;254 734 11908 35501 39234)	.											.	PAPOLA-68	0			c.G2130C						.						105	108	107					14																	97029218		2203	4300	6503	SO:0001819	synonymous_variant	10914	exon21			TTCTCTGTTGGCC	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2130G>C	14.37:g.97029218G>C		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	25	13	NM_032632	0	0	0	0	0	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	CCDS9946.1																																																																																			.		0.403	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			C	97029218	G	C	97029218	2	2	31	1	0	0	0	0	0	0	0	1	11468	1364	48	3		3	PAPOLA	14	97029218	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	215641	97029218	10320322	1747	7299											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	29	4	NM_001127258	0	0	0	0	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	31	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3112471	100141689	7207851	1748	7300											
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	101351118	101351118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgagtcttcagagggtTctatcatttcgtcggatgga	11	7	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:101351118T>C	ENST00000534062.1	-	1	66	c.8A>G	c.(7-9)gAa>gGa	p.E3G	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	3					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTCAGAGGGTTCTATCATTTC	0.498																																					p.E3G		.											.	RTL1-46	0			c.A8G						.						31	29	29					14																	101351118		1568	3582	5150	SO:0001583	missense	388015	exon1			GAGGGTTCTATCA		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.8A>G	14.37:g.101351118T>C	ENSP00000435342:p.Glu3Gly	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	100	66	NM_001134888	0	0	0	0	0	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597619	0.66332	.	.	ENSG00000254656	ENST00000534062	T	0.38077	1.16	3.48	3.48	0.39840	.	.	.	.	.	T	0.42743	0.1216	N	0.24115	0.695	0.27809	N	0.942209	D	0.89917	1.0	D	0.79108	0.992	T	0.18178	-1.0345	9	0.87932	D	0	.	8.659	0.34081	0.0:0.0:0.0:1.0	.	3	E9PKS8	.	G	3	ENSP00000435342:E3G	ENSP00000435342:E3G	E	-	2	0	RTL1	100420871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.033000	0.49743	1.819000	0.53055	0.459000	0.35465	GAA	.		0.498	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		C	101351118	T	C	101351118	3	2	31	1	0	0	0	0	1	0	0	0	13769	1783	62	4	4072	4	RTL1	14	101351118	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1209429	101351118	5998422	1749	7301											
DIO3	1735	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102028262	102028262	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactccgaggtggttctgccCgacggcttccagagccagca	12	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:102028262C>G	ENST00000510508.4	+	1	575	c.429C>G	c.(427-429)ccC>ccG	p.P143P	DIO3_ENST00000359323.3_Silent_p.P117P|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	143					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TGGTTCTGCCCGACGGCTTCC	0.647																																					.		.											.	DIO3-494	0			.						.						40	45	43					14																	102028262		2030	4178	6208	SO:0001819	synonymous_variant	1735	.			TCTGCCCGACGGC	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.429C>G	14.37:g.102028262C>G		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	114	39	.	0	0	0	0	0	G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	CCDS41992.2																																																																																			.		0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		G	102028262	C	G	102028262	2	3	31	1	0	0	0	0	0	0	0	1	4540	639	23	2		2	DIO3	14	102028262	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	677144	102028262	5321278	1750	7302											
C14orf73	91828	hgsc.bcm.edu	37	chr14	103568729	103568729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagcgcggaggaggaAgcccacccttctccccccga	14	15	1	1	rs10142200	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:103568729A>G	ENST00000380069.3	+	2	745	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	223					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGAGGAGGAAGCCCACCCTT	0.756													G|||	2646	0.528355	0.5666	0.5303	5008	,	,		12079	0.6042		0.3917	False		,,,				2504	0.5378				p.E223E		.											.	EXOC3L4-23	0			c.A669G						.	G		2098,2000		603,892,554	5	5	5		669	2.5	0.8	14	dbSNP_119	5	2949,5055		663,1623,1716	no	coding-synonymous	EXOC3L4	NM_001077594.1		1266,2515,2270	GG,GA,AA		36.8441,48.8043,41.7039		223/723	103568729	5047,7055	2049	4002	6051	SO:0001819	synonymous_variant	91828	exon2			GGAGGAAGCCCAC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.669A>G	14.37:g.103568729A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001077594	0	0	0	0	0	Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																			A|0.486;G|0.514		0.756	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		G	103568729	A	G	103568729	2	3	31	1	0	0	0	0	0	0	0	1	1784	69	3	4		4	C14orf73	14	103568729	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1540467	103568729	3780811	1751	7303											
MARK3	4140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	103931918	103931918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatctattgttagatgccGatatgaacattaaaatagca	6	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:103931918G>A	ENST00000429436.2	+	8	1075	c.565G>A	c.(565-567)Gat>Aat	p.D189N	MARK3_ENST00000416682.2_Missense_Mutation_p.D212N|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000553942.1_Missense_Mutation_p.D189N|MARK3_ENST00000216288.7_Missense_Mutation_p.D189N|MARK3_ENST00000303622.9_Missense_Mutation_p.D189N|MARK3_ENST00000335102.5_Missense_Mutation_p.D212N|MARK3_ENST00000561071.1_Intron	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTTAGATGCCGATATGAACAT	0.363																																					p.D189N		.											.	MARK3-360	0			c.G565A						.						69	67	67					14																	103931918		1855	4099	5954	SO:0001583	missense	4140	exon8			GATGCCGATATGA	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.565G>A	14.37:g.103931918G>A	ENSP00000411397:p.Asp189Asn	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	55	13	NM_001128919	0	0	0	0	0	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902848	0.52227	.	.	ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.98	5.98	0.97165	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	0.34483	0.0899	N	0.12569	0.235	0.80722	D	1	P;P;P;D;P	0.71674	0.76;0.711;0.571;0.998;0.502	B;B;B;D;B	0.67231	0.213;0.125;0.142;0.95;0.065	T	0.15292	-1.0442	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	212;189;189;189;189	P27448-2;P27448-6;P27448;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.	N	212;212;189;189;189;189	ENSP00000335347:D212N;ENSP00000408092:D212N;ENSP00000411397:D189N;ENSP00000303698:D189N;ENSP00000216288:D189N;ENSP00000450772:D189N	ENSP00000216288:D189N	D	+	1	0	MARK3	103001671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAT	.		0.363	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		A	103931918	G	A	103931918	3	1	31	1	0	0	0	0	1	0	0	0	9352	1058	37	1	595	1	MARK3	14	103931918	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	363189	103931918	3417622	1752	7304											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001823	0	0	0	0	0	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	31	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	56262	103988180	3361360	1753	7305											
TDRD9	122402	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	104470600	104470600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggacgagtgtctagaggGtactgttaccggctggtaca	15	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104470600G>T	ENST00000409874.4	+	14	1557	c.1509G>T	c.(1507-1509)ggG>ggT	p.G503G	TDRD9_ENST00000339063.5_Silent_p.G503G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	503	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)				TGTCTAGAGGGTACTGTTACC	0.423																																					p.G503G		.											.	TDRD9-70	0			c.G1509T						.						113	87	96					14																	104470600		2203	4300	6503	SO:0001819	synonymous_variant	122402	exon14			TAGAGGGTACTGT	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.1509G>T	14.37:g.104470600G>T		Somatic	111	2		WXS	Illumina GAIIx	Phase_I	135	107	NM_153046	0	0	0	0	0	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	8.148	0.786685	0.16189	.	.	ENSG00000156414	ENST00000557332	.	.	.	5.87	-10.6	0.00265	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57046	-0.7878	4	.	.	.	.	8.7082	0.34367	0.3618:0.4824:0.0878:0.068	.	.	.	.	L	230	.	.	V	+	1	0	TDRD9	103540353	0.037000	0.19845	0.018000	0.16275	0.852000	0.48524	-0.787000	0.04618	-2.223000	0.00726	-0.880000	0.02959	GTA	.		0.423	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104470600	G	T	104470600	2	4	31	1	0	0	0	0	0	0	0	1	15783	1248	44	3		3	TDRD9	14	104470600	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	482420	104470600	2878940	1754	7306											
ASPG	374569	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	104561948	104561948	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgcctcgatgctgtccttCatgctggagaacctgcagaa	11	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104561948C>T	ENST00000551177.1	+	4	476	c.384C>T	c.(382-384)ttC>ttT	p.F128F	ASPG_ENST00000455920.2_Silent_p.F128F|ASPG_ENST00000546892.2_Silent_p.F128F	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	128	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCTGTCCTTCATGCTGGAGA	0.627																																					p.F128F		.											.	.	0			c.C384T						.						67	73	71					14																	104561948		2121	4231	6352	SO:0001819	synonymous_variant	374569	exon4			GTCCTTCATGCTG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.384C>T	14.37:g.104561948C>T		Somatic	140	1		WXS	Illumina GAIIx	Phase_I	145	28	NM_001080464	0	0	0	0	0	B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493292	0.12702	.	.	ENSG00000166183	ENST00000551170	.	.	.	4.13	1.21	0.21127	.	.	.	.	.	T	0.54838	0.1883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	-25.9536	7.6401	0.28288	0.0:0.635:0.0:0.365	.	.	.	.	Y	65	.	.	H	+	1	0	ASPG	103631701	0.812000	0.29077	0.699000	0.30290	0.478000	0.33099	-0.040000	0.12104	0.012000	0.14892	0.455000	0.32223	CAT	.		0.627	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		T	104561948	C	T	104561948	2	4	31	1	0	0	0	0	0	0	0	1	1053	825	29	3		3	ASPG	14	104561948	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	91348	104561948	2787592	1755	7307											
KIF26A	26153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	104641745	104641745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggccagccccgcccgaGggggccggaagccctcgcca	14	19	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104641745G>A	ENST00000423312.2	+	12	2620	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G735R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	874					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGCCCGAGGGGGCCGGAA	0.706																																					p.G874R		.											.	KIF26A-24	0			c.G2620A						.						9	13	12					14																	104641745		1925	4077	6002	SO:0001583	missense	26153	exon12			GCCCGAGGGGGCC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2620G>A	14.37:g.104641745G>A	ENSP00000388241:p.Gly874Arg	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	120	26	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731090	0.48939	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78924	-1.22;-1.22	3.66	2.76	0.32466	.	.	.	.	.	T	0.71484	0.3345	L	0.55481	1.735	0.09310	N	1	B	0.23058	0.079	B	0.20767	0.031	T	0.61118	-0.7127	9	0.45353	T	0.12	.	9.6044	0.39624	0.1023:0.0:0.8977:0.0	.	874	Q9ULI4	KI26A_HUMAN	R	874;735	ENSP00000388241:G874R;ENSP00000325452:G735R	ENSP00000325452:G735R	G	+	1	0	KIF26A	103711498	0.227000	0.23707	0.002000	0.10522	0.064000	0.16182	3.083000	0.50136	0.636000	0.30508	0.462000	0.41574	GGG	.		0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104641745	G	A	104641745	3	1	31	1	0	0	0	0	1	0	0	0	8321	1000	35	3	2666	3	KIF26A	14	104641745	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	79797	104641745	2707795	1756	7308											
KIF26A	26153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	104641876	104641876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgagccctgcaaggcCattgtctggggtgaccagag	13	13	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104641876C>T	ENST00000423312.2	+	12	2751	c.2751C>T	c.(2749-2751)gcC>gcT	p.A917A	KIF26A_ENST00000315264.7_Silent_p.A778A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	917					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCAAGGCCATTGTCTGGG	0.667																																					p.A917A		.											.	KIF26A-24	0			c.C2751T						.						13	16	15					14																	104641876		1976	4116	6092	SO:0001819	synonymous_variant	26153	exon12			CAAGGCCATTGTC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2751C>T	14.37:g.104641876C>T		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	62	11	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			.		0.667	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104641876	C	T	104641876	2	4	31	1	0	0	0	0	0	0	0	1	8321	581	21	3		3	KIF26A	14	104641876	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	131	104641876	2707664	1757	7309											
AHNAK2	113146	broad.mit.edu;bcgsc.ca	37	chr14	105418991	105418991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaacatctatctgggggcCcttgaggtccactttgggca	11	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:105418991C>A	ENST00000333244.5	-	7	2916	c.2797G>T	c.(2797-2799)Ggc>Tgc	p.G933C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	933						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)			ATCTGGGGGCCCTTGAGGTCC	0.622																																					p.G933C		.											.	AHNAK2-47	0			c.G2797T						.						148	167	161					14																	105418991		1837	4080	5917	SO:0001583	missense	113146	exon7			GGGGGCCCTTGAG	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.2797G>T	14.37:g.105418991C>A	ENSP00000353114:p.Gly933Cys	Somatic	204	2		WXS	Illumina GAIIx	Phase_I	226	146	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	8.410	0.843856	0.16963	.	.	ENSG00000185567	ENST00000333244	T	0.02656	4.21	3.0	3.0	0.34707	.	.	.	.	.	T	0.17238	0.0414	M	0.92169	3.28	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03981	-1.0987	9	0.52906	T	0.07	-9.1561	6.9921	0.24761	0.0:0.7794:0.0:0.2206	.	933	Q8IVF2	AHNK2_HUMAN	C	933	ENSP00000353114:G933C	ENSP00000353114:G933C	G	-	1	0	AHNAK2	104490036	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-0.667000	0.05274	1.626000	0.50381	0.313000	0.20887	GGC	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418991	C	A	105418991	3	1	31	1	0	0	0	0	1	0	0	0	415	623	22	3	14594	3	AHNAK2	14	105418991	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	777115	105418991	1930549	1758	7310											
OR4M2	390538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	22368613	22368613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggtgacagaatttgTtctcactggcctatcccaga	8	12	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22368613T>C	ENST00000332663.2	+	1	136	c.38T>C	c.(37-39)gTt>gCt	p.V13A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAGAATTTGTTCTCACTGGC	0.328																																					p.V13A		.											.	OR4M2-69	0			c.T38C						.						235	209	218					15																	22368613		2203	4300	6503	SO:0001583	missense	390538	exon1			AATTTGTTCTCAC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.38T>C	15.37:g.22368613T>C	ENSP00000329467:p.Val13Ala	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	133	34	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.646664	0.29246	.	.	ENSG00000182974	ENST00000332663	T	0.00609	6.24	2.5	2.5	0.30297	.	0.551148	0.15107	N	0.280167	T	0.01287	0.0042	M	0.87617	2.895	0.24200	N	0.995512	B	0.26147	0.143	B	0.31390	0.129	T	0.19418	-1.0306	10	0.87932	D	0	-7.3293	8.5824	0.33637	0.0:0.0:0.0:1.0	.	13	Q8NGB6	OR4M2_HUMAN	A	13	ENSP00000329467:V13A	ENSP00000329467:V13A	V	+	2	0	OR4M2	19869977	0.921000	0.31238	0.999000	0.59377	0.701000	0.40568	4.602000	0.61098	1.167000	0.42706	0.368000	0.22195	GTT	.		0.328	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			C	22368613	T	C	22368613	3	2	31	1	0	0	0	0	1	0	0	0	11115	1725	60	4	40	4	OR4M2	15	22368613	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10		22368613	80162779	1759	7311											
OR4M2	390538	ucsc.edu;bcgsc.ca	37	chr15	22369084	22369084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgacttcctttctgtgGgcccaatgagttagacagtt	10	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22369084G>T	ENST00000332663.2	+	1	607	c.509G>T	c.(508-510)gGg>gTg	p.G170V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTTCTGTGGGCCCAATGAG	0.493																																					p.G170V		.											.	OR4M2-69	0			c.G509T						.						305	251	269					15																	22369084		2203	4300	6503	SO:0001583	missense	390538	exon1			TCTGTGGGCCCAA	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.509G>T	15.37:g.22369084G>T	ENSP00000329467:p.Gly170Val	Somatic	610	3		WXS	Illumina GAIIx	Phase_I	576	118	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.732703	0.48939	.	.	ENSG00000182974	ENST00000332663	T	0.38401	1.14	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.67031	0.2850	H	0.96691	3.865	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.71417	-0.4599	10	0.87932	D	0	-10.6483	6.6792	0.23111	0.0:0.0:0.7179:0.2821	.	170	Q8NGB6	OR4M2_HUMAN	V	170	ENSP00000329467:G170V	ENSP00000329467:G170V	G	+	2	0	OR4M2	19870448	0.635000	0.27199	0.998000	0.56505	0.991000	0.79684	2.139000	0.42149	1.422000	0.47177	0.448000	0.29417	GGG	.		0.493	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			T	22369084	G	T	22369084	3	4	31	1	0	0	0	0	1	0	0	0	11115	1232	43	3	511	3	OR4M2	15	22369084	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	471	22369084	80162308	1760	7312											
OR4N4	283694	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	22382866	22382866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgccggcctctgcacTgttcaactgtcatgaaccct	7	16	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22382866T>G	ENST00000328795.4	+	1	485	c.394T>G	c.(394-396)Tgt>Ggt	p.C132G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCCTCTGCACTGTTCAACTGT	0.532																																					p.C132G		.											.	OR4N4-73	0			c.T394G						.						194	169	177					15																	22382866		2190	4263	6453	SO:0001583	missense	283694	exon1			CTGCACTGTTCAA	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.394T>G	15.37:g.22382866T>G	ENSP00000332500:p.Cys132Gly	Somatic	290	0		WXS	Illumina GAIIx	Phase_I	271	78	NM_001005241	0	0	0	0	0	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.549	0.102031	0.08731	.	.	ENSG00000183706	ENST00000328795	T	0.00419	7.48	3.2	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000450	T	0.00271	0.0008	L	0.27053	0.805	0.22500	N	0.999044	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	10	0.87932	D	0	-2.1484	6.8344	0.23927	0.2081:0.0:0.0:0.7918	.	132	Q8N0Y3	OR4N4_HUMAN	G	132	ENSP00000332500:C132G	ENSP00000332500:C132G	C	+	1	0	OR4N4	19884230	1.000000	0.71417	0.311000	0.25182	0.070000	0.16714	5.638000	0.67861	0.387000	0.25024	0.155000	0.16302	TGT	.		0.532	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22382866	T	G	22382866	3	3	31	1	0	0	0	0	1	0	0	0	11117	1580	55	5	396	5	OR4N4	15	22382866	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	13782	22382866	80148526	1761	7313											
TUBGCP5	114791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	22855078	22855078	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggtatgcaacttacacGttatatagcgtatcagaaaa	7	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22855078G>T	ENST00000283645.4	+	13	1669	c.1539G>T	c.(1537-1539)acG>acT	p.T513T	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.T513T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	513					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAACTTACACGTTATATAGCG	0.378																																					p.T513T		.											.	TUBGCP5-91	0			c.G1539T						.						63	61	61					15																	22855078		2203	4300	6503	SO:0001819	synonymous_variant	114791	exon13			TTACACGTTATAT	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1539G>T	15.37:g.22855078G>T		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	273	32	NM_052903	0	0	0	0	0	E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	CCDS10008.1																																																																																			.		0.378	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		T	22855078	G	T	22855078	2	4	31	1	0	0	0	0	0	0	0	1	16818	1132	40	2		2	TUBGCP5	15	22855078	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	472212	22855078	79676314	1762	7314											
MAGEL2	54551	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	23889842	23889842	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatccaagggagacaaGggctgtgcctccaccttgga	11	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:23889842G>T	ENST00000532292.1	-	1	1333	c.1239C>A	c.(1237-1239)ccC>ccA	p.P413P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	296	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGAGACAAGGGCTGTGCCT	0.567																																					p.P1016P		.											.	.	0			c.C3048A						.						46	46	46					15																	23889842		2027	4187	6214	SO:0001819	synonymous_variant	54551	exon1			AGACAAGGGCTGT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1239C>A	15.37:g.23889842G>T		Somatic	171	1		WXS	Illumina GAIIx	Phase_I	175	30	NM_019066	0	0	0	0	0		Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863680	0.00552	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	-7.51	0.01346	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37103	-0.9720	5	0.48119	T	0.1	.	3.7676	0.08629	0.2175:0.085:0.494:0.2036	.	.	.	.	H	445	.	ENSP00000433433:P445H	P	-	2	0	MAGEL2	21440935	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.766000	0.00782	-1.685000	0.01441	-1.292000	0.01352	CCT	.		0.567	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23889842	G	T	23889842	2	4	31	1	0	0	0	0	0	0	0	1	9227	987	35	3		3	MAGEL2	15	23889842	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1034764	23889842	78641550	1763	7315											
GABRB3	2562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	26866612	26866612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgtcaagcgtgaggttgaGagggatcccagaataggcga	15	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:26866612G>C	ENST00000311550.5	-	4	421	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V	GABRB3_ENST00000545868.1_Missense_Mutation_p.L19V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L33V|GABRB3_ENST00000299267.4_Missense_Mutation_p.L104V|GABRB3_ENST00000541819.2_Missense_Mutation_p.L160V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	104					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)	GTGAGGTTGAGAGGGATCCCA	0.418																																					p.L104V		.											.	GABRB3-518	0			c.C310G						.						104	101	102					15																	26866612		2203	4300	6503	SO:0001583	missense	2562	exon4			GGTTGAGAGGGAT		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.310C>G	15.37:g.26866612G>C	ENSP00000308725:p.Leu104Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	74	10	NM_021912	0	0	0	0	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597035	0.46318	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.32530	0.975	0.80722	D	1	P;B;B	0.41420	0.749;0.168;0.367	B;B;B	0.38921	0.187;0.124;0.285	T	0.71797	-0.4484	10	0.41790	T	0.15	.	19.0679	0.93119	0.0:0.0:1.0:0.0	.	160;104;104	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	104;160;104;33;19;19	ENSP00000308725:L104V;ENSP00000442408:L160V;ENSP00000299267:L104V;ENSP00000383049:L33V;ENSP00000439169:L19V;ENSP00000452272:L19V	ENSP00000299267:L104V	L	-	1	0	GABRB3	24417705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.563000	0.73964	2.752000	0.94435	0.467000	0.42956	CTC	.		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			C	26866612	G	C	26866612	3	2	31	1	0	0	0	0	1	0	0	0	6192	942	33	3	1135	3	GABRB3	15	26866612	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2976770	26866612	75664780	1764	7316											
GABRA5	2558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	27182468	27182468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgagaacatcagcacCagcacaggtgagggctcggc	14	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:27182468C>A	ENST00000335625.5	+	8	1605	c.717C>A	c.(715-717)acC>acA	p.T239T	GABRA5_ENST00000355395.5_Silent_p.T239T|GABRA5_ENST00000400081.3_Silent_p.T239T|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	239					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|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)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	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)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACATCAGCACCAGCACAGGTG	0.642																																					p.T239T		.											.	GABRA5-91	0			c.C717A						.						48	52	50					15																	27182468		2147	4240	6387	SO:0001819	synonymous_variant	2558	exon8			CAGCACCAGCACA		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.717C>A	15.37:g.27182468C>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	154	86	NM_001165037	0	0	0	0	0	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																			.		0.642	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27182468	C	A	27182468	2	1	31	1	0	0	0	0	0	0	0	1	6188	581	21	3		3	GABRA5	15	27182468	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	315856	27182468	75348924	1765	7317											
GABRG3	2567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	27572125	27572125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcactggatcaccacacCcaatcagctcctccggattt	7	16	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:27572125C>A	ENST00000333743.6	+	4	694	c.440C>A	c.(439-441)cCc>cAc	p.P147H	GABRG3_ENST00000555083.1_Missense_Mutation_p.P147H	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	147					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACCACACCCAATCAGCTC	0.453																																					p.P147H	NSCLC(114;800 1656 7410 37729 45293)	.											.	.	0			c.C440A						.						71	70	71					15																	27572125		1969	4181	6150	SO:0001583	missense	2567	exon4			CCACACCCAATCA		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.440C>A	15.37:g.27572125C>A	ENSP00000331912:p.Pro147His	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	106	46	NM_001270873	0	0	0	0	0	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506314	0.85282	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.79141	-1.24;-1.24;-1.24	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.957;0.995	D	0.87617	0.2507	10	0.87932	D	0	.	19.0355	0.92976	0.0:1.0:0.0:0.0	.	147;147	Q99928;G3V594	GBRG3_HUMAN;.	H	147;147;89	ENSP00000331912:P147H;ENSP00000452244:P147H;ENSP00000451862:P89H	ENSP00000331912:P147H	P	+	2	0	GABRG3	25154871	1.000000	0.71417	0.953000	0.39169	0.752000	0.42762	7.561000	0.82288	2.722000	0.93159	0.655000	0.94253	CCC	.		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			A	27572125	C	A	27572125	3	1	31	1	0	0	0	0	1	0	0	0	6197	623	22	3	454	3	GABRG3	15	27572125	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	389657	27572125	74959267	1766	7318											
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	29346205	29346205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatggagctgcccttggagGgctatgtgcccgagggcctg	16	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:29346205G>T	ENST00000558402.1	+	5	717	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	APBA2_ENST00000561069.1_Missense_Mutation_p.G40C|APBA2_ENST00000411764.1_Missense_Mutation_p.G40C|APBA2_ENST00000558259.1_Missense_Mutation_p.G40C|APBA2_ENST00000558330.1_Missense_Mutation_p.G40C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	40					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCTTGGAGGGCTATGTGCC	0.672																																					p.G40C		.											.	APBA2-90	0			c.G118T						.						45	52	50					15																	29346205		2203	4300	6503	SO:0001583	missense	321	exon3			TTGGAGGGCTATG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.118G>T	15.37:g.29346205G>T	ENSP00000453293:p.Gly40Cys	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	289	74	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121384	0.20877	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.46451	0.87	5.06	3.16	0.36331	.	0.782790	0.11840	N	0.524328	T	0.27205	0.0667	N	0.14661	0.345	0.20074	N	0.999938	P;P;P	0.39535	0.677;0.677;0.677	B;B;B	0.39419	0.299;0.28;0.28	T	0.10823	-1.0613	10	0.72032	D	0.01	.	7.5887	0.28008	0.2587:0.0:0.7413:0.0	.	40;40;40	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	40	ENSP00000409312:G40C	ENSP00000219865:G40C	G	+	1	0	APBA2	27133497	0.886000	0.30341	0.735000	0.30896	0.155000	0.21991	1.964000	0.40462	0.497000	0.27926	0.650000	0.86243	GGC	.		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29346205	G	T	29346205	3	4	31	1	0	0	0	0	1	0	0	0	757	1232	43	3	120	3	APBA2	15	29346205	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1774080	29346205	73185187	1767	7319											
APBA2	321	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	29400511	29400511	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggtgaagctcaacattgtCagctgtcccccggtcaccac	9	15	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:29400511C>T	ENST00000558402.1	+	14	2555	c.1956C>T	c.(1954-1956)gtC>gtT	p.V652V	APBA2_ENST00000561069.1_Silent_p.V652V|APBA2_ENST00000411764.1_Silent_p.V640V|APBA2_ENST00000558259.1_Silent_p.V652V|APBA2_ENST00000558330.1_Silent_p.V640V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	652	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCAACATTGTCAGCTGTCCCC	0.582																																					p.V652V		.											.	APBA2-90	0			c.C1956T						.						178	144	156					15																	29400511		2203	4300	6503	SO:0001819	synonymous_variant	321	exon12			CATTGTCAGCTGT	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1956C>T	15.37:g.29400511C>T		Somatic	120	1		WXS	Illumina GAIIx	Phase_I	123	16	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			.		0.582	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29400511	C	T	29400511	2	4	31	1	0	0	0	0	0	0	0	1	757	813	29	3		3	APBA2	15	29400511	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	54306	29400511	73130881	1768	7320											
TRPM1	4308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	31295069	31295069	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttgccggagaagataCgttgcctcacattcagaaga	10	10	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:31295069C>A	ENST00000256552.6	-	28	3981	c.3834G>T	c.(3832-3834)acG>acT	p.T1278T	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.T1295T|TRPM1_ENST00000397795.2_Silent_p.T1256T	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)		GGAGAAGATACGTTGCCTCAC	0.453																																					p.T1295T		.											.	TRPM1-94	0			c.G3885T						.						93	94	94					15																	31295069		2073	4210	6283	SO:0001819	synonymous_variant	4308	exon27			AAGATACGTTGCC	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.3834G>T	15.37:g.31295069C>A		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	68	36	NM_001252020	0	0	0	0	0		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																			.		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31295069	C	A	31295069	2	1	31	1	0	0	0	0	0	0	0	1	16633	523	19	2		2	TRPM1	15	31295069	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1894558	31295069	71236323	1769	7321											
OTUD7A	161725	ucsc.edu;bcgsc.ca	37	chr15	31776739	31776739	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcccagcttgttggcCacggagtcggcgcgcgtctt	14	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:31776739C>G	ENST00000307050.4	-	11	1631	c.1539G>C	c.(1537-1539)gtG>gtC	p.V513V	OTUD7A_ENST00000382902.1_Silent_p.V520V	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	513					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)		GCTTGTTGGCCACGGAGTCGG	0.602																																					p.V513V		.											.	OTUD7A-502	0			c.G1539C						.						84	67	73					15																	31776739		2200	4300	6500	SO:0001819	synonymous_variant	161725	exon11			GTTGGCCACGGAG	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.1539G>C	15.37:g.31776739C>G		Somatic	62	2		WXS	Illumina GAIIx	Phase_I	66	24	NM_130901	0	0	0	0	0	Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																			.		0.602	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		G	31776739	C	G	31776739	2	3	31	1	0	0	0	0	0	0	0	1	11357	581	21	3		3	OTUD7A	15	31776739	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	481670	31776739	70754653	1770	7322											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	33300216	33300216	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcatcaaagaggcataccTgcaggttttcaatttcttct	7	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:33300216T>A	ENST00000559047.1	-	4	2221	c.2222A>T	c.(2221-2223)cAg>cTg	p.Q741L	FMN1_ENST00000334528.9_Splice_Site_p.Q518L|FMN1_ENST00000561249.1_Splice_Site_p.Q643L			Q68DA7	FMN1_HUMAN	formin 1	741	Mediates interaction with alpha-catenin. {ECO:0000250}.				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)		GAGGCATACCTGCAGGTTTTC	0.353																																					p.Q518L		.											.	FMN1-23	0			c.A1553T						.						82	77	78					15																	33300216		1822	4072	5894	SO:0001630	splice_region_variant	342184	exon3			CATACCTGCAGGT	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.2223+1A>T	15.37:g.33300216T>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	65	26	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	T	15.49	2.850340	0.51270	.	.	ENSG00000248905	ENST00000334528	T	0.48201	0.82	5.14	5.14	0.70334	.	0.232696	0.44902	D	0.000406	T	0.64649	0.2617	M	0.68593	2.085	.	.	.	D	0.67145	0.996	D	0.77557	0.99	T	0.74399	-0.3678	9	0.66056	D	0.02	.	11.5263	0.50582	0.0:0.0:0.0:1.0	.	518	Q68DA7-5	.	L	518	ENSP00000333950:Q518L	ENSP00000333950:Q518L	Q	-	2	0	FMN1	31087508	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.988000	0.56951	2.285000	0.76669	0.533000	0.62120	CAG	.		0.353	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Missense_Mutation	A	33300216	T	A	33300216	5	1	31	1	0	0	0	0	0	0	1	0	5971	1594	55	5	2097	5	FMN1	15	33300216	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1523477	33300216	69231176	1771	7323											
RYR3	6263	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	33944994	33944994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagatcaaatcggagcaaCgtggacctggagatcggctg	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:33944994C>A	ENST00000389232.4	+	32	4288	c.4218C>A	c.(4216-4218)aaC>aaA	p.N1406K	RYR3_ENST00000415757.3_Missense_Mutation_p.N1406K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1406	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		ATCGGAGCAACGTGGACCTGG	0.552																																					p.N1406K		.											.	RYR3-520	0			c.C4218A						.						109	111	111					15																	33944994		2040	4206	6246	SO:0001583	missense	6263	exon32			GAGCAACGTGGAC		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.4218C>A	15.37:g.33944994C>A	ENSP00000373884:p.Asn1406Lys	Somatic	330	2		WXS	Illumina GAIIx	Phase_I	316	66	NM_001243996	0	0	0	0	0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	11.89	1.772751	0.31411	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.58797	0.31;0.31	5.52	-1.42	0.08913	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.052616	0.64402	D	0.000001	T	0.52240	0.1722	L	0.41710	1.295	0.49051	D	0.999746	B;P	0.47545	0.249;0.897	B;P	0.53593	0.081;0.73	T	0.45542	-0.9254	10	0.32370	T	0.25	.	7.7965	0.29150	0.0:0.1768:0.1394:0.6838	.	1406;1406	Q15413-2;Q15413	.;RYR3_HUMAN	K	1406	ENSP00000373884:N1406K;ENSP00000399610:N1406K	ENSP00000354735:N1406K	N	+	3	2	RYR3	31732286	0.062000	0.20869	0.997000	0.53966	0.992000	0.81027	-0.643000	0.05421	-0.098000	0.12285	-0.127000	0.14921	AAC	.		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	33944994	C	A	33944994	3	1	31	1	0	0	0	0	1	0	0	0	13815	535	19	2	4344	2	RYR3	15	33944994	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	644778	33944994	68586398	1772	7324											
RYR3	6263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	34111987	34111987	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgaccctttgtacacctcCtattccagcatgatggccaa	7	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:34111987C>A	ENST00000389232.4	+	77	10807	c.10737C>A	c.(10735-10737)tcC>tcA	p.S3579S	RYR3_ENST00000415757.3_Silent_p.S3574S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3579					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)		TGTACACCTCCTATTCCAGCA	0.358																																					p.S3579S		.											.	RYR3-520	0			c.C10737A						.						334	316	321					15																	34111987		1840	4094	5934	SO:0001819	synonymous_variant	6263	exon77			CACCTCCTATTCC		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.10737C>A	15.37:g.34111987C>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	103	26	NM_001036	0	0	0	0	0	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			.		0.358	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34111987	C	A	34111987	2	1	31	1	0	0	0	0	0	0	0	1	13815	668	24	3		3	RYR3	15	34111987	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	166993	34111987	68419405	1773	7325											
CHRM5	1133	ucsc.edu;bcgsc.ca	37	chr15	34355202	34355202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctacatcctcatgggacGctgggctctcgggagtctgg	13	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:34355202G>T	ENST00000383263.5	+	3	954	c.284G>T	c.(283-285)cGc>cTc	p.R95L	CHRM5_ENST00000557872.1_Missense_Mutation_p.R95L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	95					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	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)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R95H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTCATGGGACGCTGGGCTCTC	0.502																																					p.R95L		.											.	CHRM5-91	1	Substitution - Missense(1)	lung(1)	c.G284T						.						82	68	73					15																	34355202		2201	4298	6499	SO:0001583	missense	1133	exon3			TGGGACGCTGGGC		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.284G>T	15.37:g.34355202G>T	ENSP00000372750:p.Arg95Leu	Somatic	181	2		WXS	Illumina GAIIx	Phase_I	190	78	NM_012125	0	0	0	0	0	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418719	0.42918	.	.	ENSG00000184984	ENST00000383263	T	0.72942	-0.7	5.64	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.110824	0.64402	D	0.000007	T	0.67924	0.2945	M	0.73430	2.235	0.37504	D	0.916863	P	0.34699	0.464	B	0.41571	0.36	T	0.65158	-0.6236	10	0.20046	T	0.44	-12.6225	4.8627	0.13592	0.3657:0.0:0.6343:0.0	.	95	P08912	ACM5_HUMAN	L	95	ENSP00000372750:R95L	ENSP00000372750:R95L	R	+	2	0	CHRM5	32142494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.528000	0.60580	1.627000	0.50400	0.650000	0.86243	CGC	.		0.502	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			T	34355202	G	T	34355202	3	4	31	1	0	0	0	0	1	0	0	0	3387	1087	38	2	286	2	CHRM5	15	34355202	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	243215	34355202	68176190	1774	7326											
GPR176	11245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	40094026	40094026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacagtctggtagacgacCagggtggcatagggcacgct	15	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:40094026C>A	ENST00000561100.1	-	3	1720	c.855G>T	c.(853-855)ctG>ctT	p.L285L	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Silent_p.L240L|GPR176_ENST00000299092.3_Silent_p.L284L|GPR176_ENST00000560729.1_5'UTR	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	285					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTAGACGACCAGGGTGGCAT	0.577											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L285L		.											.	GPR176-519	0			c.G855T						.						74	71	72					15																	40094026		2203	4300	6503	SO:0001819	synonymous_variant	11245	exon3			GACGACCAGGGTG	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.855G>T	15.37:g.40094026C>A		Somatic	159	0	890	WXS	Illumina GAIIx	Phase_I	149	40	NM_007223	0	0	0	0	0	Q6NXF6	Silent	SNP	ENST00000561100.1	37	CCDS10051.1																																																																																			.		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		A	40094026	C	A	40094026	2	1	31	1	0	0	0	0	0	0	0	1	6699	581	21	3		3	GPR176	15	40094026	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5738824	40094026	62437366	1775	7327											
DISP2	85455	hgsc.bcm.edu	37	chr15	40660192	40660192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgggcacggctgtgCtggtgcacctggcgctcacg	14	13	3	0	rs8040755	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225				p.L627L		.											.	DISP2-92	0			c.C1879T						.	C		81,4189		0,81,2054	5	5	5		1879	5.6	1	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455	exon8			GCTGTGCTGGTGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1879C>T	15.37:g.40660192C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	16	NM_033510	0	0	0	0	0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			C|0.941;T|0.059		0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40660192	C	T	40660192	2	4	31	1	0	0	0	0	0	0	0	1	4554	796	28	3		3	DISP2	15	40660192	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	566166	40660192	61871200	1776	7328											
INO80	54617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	41272438	41272438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttaccgtcctccagaggGgttggtgcctttgccctgtt	13	11	0	1	rs545022339		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:41272438G>A	ENST00000361937.3	-	36	5078	c.4654C>T	c.(4654-4656)Ccc>Tcc	p.P1552S	INO80_ENST00000401393.3_Missense_Mutation_p.P1552S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1552	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTCCAGAGGGGTTGGTGCCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		20446	0.001		0	False		,,,				2504	0				p.P1552S		.											.	INO80-72	0			c.C4654T						.						137	127	131					15																	41272438		2203	4300	6503	SO:0001583	missense	54617	exon36			CAGAGGGGTTGGT	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.4654C>T	15.37:g.41272438G>A	ENSP00000355205:p.Pro1552Ser	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	70	16	NM_017553	0	0	0	0	0	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	4.460	0.085272	0.08583	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	D;D	0.90069	-2.61;-2.61	5.4	2.56	0.30785	.	0.619093	0.17507	N	0.171777	T	0.70979	0.3286	N	0.08118	0	0.28090	N	0.931854	B	0.02656	0.0	B	0.01281	0.0	T	0.56300	-0.8002	10	0.09084	T	0.74	.	4.3863	0.11318	0.2417:0.0:0.5077:0.2505	.	1552	Q9ULG1	INO80_HUMAN	S	188;1552;1552	ENSP00000355205:P1552S;ENSP00000384686:P1552S	ENSP00000263793:P188S	P	-	1	0	INO80	39059730	0.985000	0.35326	0.882000	0.34594	0.986000	0.74619	0.895000	0.28363	0.427000	0.26145	0.655000	0.94253	CCC	.		0.577	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		A	41272438	G	A	41272438	3	1	31	1	0	0	0	0	1	0	0	0	7773	1232	43	3	20	3	INO80	15	41272438	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	612246	41272438	61258954	1777	7329											
MAPKBP1	23005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42116197	42116197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgcagcccccaccccCtgagaagactcccaacccca	5	20	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42116197C>T	ENST00000456763.2	+	30	4365	c.4169C>T	c.(4168-4170)cCt>cTt	p.P1390L	RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.P1384L|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1267L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1223L	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1390	Poly-Pro.									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)		CCCCCACCCCCTGAGAAGACT	0.637																																					p.P1390L		.											.	MAPKBP1-589	0			c.C4169T						.						71	79	77					15																	42116197		2203	4300	6503	SO:0001583	missense	23005	exon30			CACCCCCTGAGAA	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.4169C>T	15.37:g.42116197C>T	ENSP00000393099:p.Pro1390Leu	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	41	8	NM_001128608	0	0	0	0	0	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	17.15	3.315691	0.60524	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.44881	1.13;1.24;0.91;1.17	5.81	0.831	0.18860	.	0.704197	0.14924	N	0.290461	T	0.26085	0.0636	L	0.50333	1.59	0.35947	D	0.833617	B;B;B;B;B	0.13145	0.001;0.003;0.007;0.002;0.003	B;B;B;B;B	0.12837	0.003;0.004;0.004;0.004;0.008	T	0.26292	-1.0107	10	0.05959	T	0.93	-1.5204	2.511	0.04657	0.1021:0.4305:0.1504:0.317	.	1223;1267;1223;1390;1384	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	L	1384;1267;1223;1390	ENSP00000397570:P1384L;ENSP00000221214:P1267L;ENSP00000260357:P1223L;ENSP00000393099:P1390L	ENSP00000221214:P1267L	P	+	2	0	MAPKBP1	39903489	0.098000	0.21812	0.910000	0.35882	0.990000	0.78478	-0.151000	0.10175	0.116000	0.18110	-0.150000	0.13652	CCT	.		0.637	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		T	42116197	C	T	42116197	3	4	31	1	0	0	0	0	1	0	0	0	9330	681	24	3	4283	3	MAPKBP1	15	42116197	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	843759	42116197	60415195	1778	7330											
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42158294	42158294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaactccaggaagttcCgcctgtcctccagctcctgg	11	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42158294C>A	ENST00000320955.6	-	38	6991	c.6764G>T	c.(6763-6765)cGg>cTg	p.R2255L	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2255					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)		CAGGAAGTTCCGCCTGTCCTC	0.667																																					p.R2220L		.											.	SPTBN5-91	0			c.G6659T						.						12	13	13					15																	42158294		1957	4116	6073	SO:0001583	missense	51332	exon38			AAGTTCCGCCTGT	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.6764G>T	15.37:g.42158294C>A	ENSP00000317790:p.Arg2255Leu	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	68	11	NM_016642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	0.020	-1.435258	0.01108	.	.	ENSG00000137877	ENST00000320955	T	0.72167	-0.63	4.68	-0.767	0.11016	.	0.611589	0.14413	N	0.321164	T	0.67618	0.2912	M	0.76002	2.32	0.09310	N	1	P	0.48503	0.911	P	0.46172	0.506	T	0.60601	-0.7231	10	0.10902	T	0.67	.	9.8424	0.41006	0.0:0.6346:0.0:0.3654	.	2255	Q9NRC6	SPTN5_HUMAN	L	2255	ENSP00000317790:R2255L	ENSP00000317790:R2255L	R	-	2	0	SPTBN5	39945586	0.001000	0.12720	0.000000	0.03702	0.105000	0.19272	0.397000	0.20883	-0.479000	0.06813	-0.291000	0.09656	CGG	.		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42158294	C	A	42158294	3	1	31	1	0	0	0	0	1	0	0	0	15169	652	23	2	4384	2	SPTBN5	15	42158294	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	42097	42158294	60373098	1779	7331											
EHD4	30844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42246065	42246066	+	Missense_Mutation	DNP	TC	TC	AT													gccctcagtctctccatacaTcacggcgatgaaggagtctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42246065_42246066TC>AT	ENST00000220325.4	-	2	392_393	c.309_310GA>AT	c.(307-312)gtGAtg>gtATtg	p.M104L		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	104	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCCATACATCACGGCGATGA	0.53																																					p.M104L		.											.	EHD4-92	0			c.G309A						.																																			SO:0001583	missense	30844	exon2			ATACATCACGGCG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.309_310delinsAT	15.37:g.42246065_42246066delinsAT	ENSP00000220325:p.Met104Leu	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	60	0	NM_139265	0	0	0	0	0	Q9HAR1|Q9NZN2	Missense_Mutation	DNP	ENST00000220325.4	37	CCDS10081.1																																																																																			.		0.53	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		AT	42246066	TC	AT	42246065	3	1	31	1	0	0	0	0	1	0	0	0	4994	1435	50	5	1335	5	EHD4	15	42246065	Missense_Mutation	DNP	TC	TCGA-OR-A5KB-01A-11D-A30A-10	87771	42246065	60285327	1780	7332											
PLA2G4D	283748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42364533	42364533	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggctcaagtagaggggcaGagggttctgaccccgttcca	15	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42364533G>A	ENST00000290472.3	-	14	1469	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	459	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)		TAGAGGGGCAGAGGGTTCTGA	0.572																																					p.L459L		.											.	PLA2G4D-136	0			c.C1375T						.						184	174	177					15																	42364533		2203	4299	6502	SO:0001819	synonymous_variant	283748	exon14			GGGGCAGAGGGTT	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.1375C>T	15.37:g.42364533G>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	82	19	NM_178034	0	0	0	0	0	Q8N176	Silent	SNP	ENST00000290472.3	37	CCDS32203.1																																																																																			.		0.572	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42364533	G	A	42364533	2	1	31	1	0	0	0	0	0	0	0	1	12043	933	33	3		3	PLA2G4D	15	42364533	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	118468	42364533	60166859	1781	7333											
TMEM87A	25963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42503948	42503948	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgtgatcattcgttcCtagggaaaaaaaaaaaggtt	10	4	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42503948C>G	ENST00000389834.4	-	20	1891		c.e20-1		TMEM87A_ENST00000448392.1_Splice_Site|RP11-546B15.1_ENST00000561800.1_RNA|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							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)		TCATTCGTTCCTAGGGAAAAA	0.363																																					.		.											.	TMEM87A-91	0			c.1627-1G>C						.						195	190	192					15																	42503948		2203	4299	6502	SO:0001630	splice_region_variant	25963	exon21			TCGTTCCTAGGGA	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.1627-1G>C	15.37:g.42503948C>G		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	45	10	NM_015497	0	0	0	0	0	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421548	0.25639	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4827	0.87677	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM87A	40291240	1.000000	0.71417	0.998000	0.56505	0.281000	0.26958	5.604000	0.67626	2.788000	0.95919	0.650000	0.86243	.	.		0.363	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Intron	G	42503948	C	G	42503948	5	3	31	1	0	0	0	0	0	0	1	0	16257	695	24	3	45	3	TMEM87A	15	42503948	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	139415	42503948	60027444	1782	7334											
TTBK2	146057	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	43120176	43120176	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtcgagccaagccaaaatCaagcatgtaacatttcctac	6	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:43120176C>A	ENST00000267890.6	-	6	595	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	TTBK2_ENST00000567274.1_Intron|TTBK2_ENST00000567840.1_Missense_Mutation_p.D163Y	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAGCCAAAATCAAGCATGTAA	0.328																																					p.D163Y		.											.	TTBK2-338	0			c.G487T						.						90	83	85					15																	43120176		1869	4107	5976	SO:0001583	missense	146057	exon6			CAAAATCAAGCAT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.487G>T	15.37:g.43120176C>A	ENSP00000267890:p.Asp163Tyr	Somatic	230	1		WXS	Illumina GAIIx	Phase_I	235	96	NM_173500	0	0	0	0	0	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303264	0.60195	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	D	0.93076	-3.16	5.51	5.51	0.81932	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	0.98504	0.9501	H	0.99391	4.545	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	0.99655	1.0992	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	94;163;163	Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;TTBK2_HUMAN	Y	163;93;143	ENSP00000267890:D163Y	ENSP00000263802:D143Y	D	-	1	0	TTBK2	40907468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.585000	0.87301	0.650000	0.86243	GAT	.		0.328	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		A	43120176	C	A	43120176	3	1	31	1	0	0	0	0	1	0	0	0	16726	826	29	3	3287	3	TTBK2	15	43120176	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	616228	43120176	59411216	1783	7335											
DUOX2	50506	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	45405235	45405235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaaccagccgtcatagCgctgcacttcccagggcagt	10	13	1	0	rs200434528		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:45405235C>A	ENST00000603300.1	-	3	312	c.110G>T	c.(109-111)cGc>cTc	p.R37L	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.R37L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	37	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCGTCATAGCGCTGCACTTC	0.667																																					p.R37L		.											.	DUOX2-95	0			c.G110T						.						62	54	57					15																	45405235		2198	4298	6496	SO:0001583	missense	50506	exon3			TCATAGCGCTGCA	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.110G>T	15.37:g.45405235C>A	ENSP00000475084:p.Arg37Leu	Somatic	138	2		WXS	Illumina GAIIx	Phase_I	168	62	NM_014080	0	0	0	0	0	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446780	0.96205	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87375	0.2353	9	0.59425	D	0.04	-20.6814	18.8314	0.92141	0.0:1.0:0.0:0.0	.	37	Q9NRD8	DUOX2_HUMAN	L	37	.	ENSP00000373691:R37L	R	-	2	0	DUOX2	43192527	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.567000	0.82357	2.700000	0.92200	0.462000	0.41574	CGC	C|0.999;A|0.001		0.667	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45405235	C	A	45405235	3	1	31	1	0	0	0	0	1	0	0	0	4815	768	27	2	4664	2	DUOX2	15	45405235	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2285059	45405235	57126157	1784	7336											
DUOXA1	405753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	45409733	45409733	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattagaggtgtgtggcGggaggtaacacaaggggtag	18	4	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:45409733G>A	ENST00000323030.5	+	6	1054				DUOXA1_ENST00000430224.2_Missense_Mutation_p.R433C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R478C|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R478C|DUOXA1_ENST00000558996.1_3'UTR	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GGTGTGTGGCGGGAGGTAACA	0.517																																					p.R478C		.											.	DUOXA1-227	0			c.C1432T						.						42	46	45					15																	45409733		2176	4256	6432	SO:0001627	intron_variant	90527	exon11			TGTGGCGGGAGGT	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.770-181G>A	15.37:g.45409733G>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	110	52	NM_144565	0	0	0	0	0	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854875	0.32791	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.61742	0.51;0.08	1.31	0.166	0.14999	.	.	.	.	.	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	P;P	0.35050	0.482;0.482	B;B	0.17722	0.019;0.019	T	0.13629	-1.0502	9	0.87932	D	0	.	4.3994	0.11379	0.0:0.0:0.5518:0.4482	.	433;478	B5M0C0;A8K9Q6	.;.	C	478;433	ENSP00000267803:R478C;ENSP00000415512:R433C	ENSP00000267803:R478C	R	-	1	0	DUOXA1	43197025	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.145000	0.16157	0.040000	0.15660	0.462000	0.41574	CGC	.		0.517	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		A	45409733	G	A	45409733	1	1	31	0	1	0	0	0	0	0	0	0	4816	1116	39	1		1	DUOXA1	15	45409733	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4498	45409733	57121659	1785	7337											
SLC24A5	283652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	48431348	48431348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccgcatttacatatatcCtggtttggatggtcacaata	7	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:48431348C>A	ENST00000341459.3	+	7	1127	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	SLC24A5_ENST00000449382.2_Missense_Mutation_p.L292M	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	352					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TACATATATCCTGGTTTGGAT	0.308																																					p.L352M		.											.	SLC24A5-90	0			c.C1054A						.						103	102	102					15																	48431348		2197	4290	6487	SO:0001583	missense	283652	exon7			TATATCCTGGTTT	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1054C>A	15.37:g.48431348C>A	ENSP00000341550:p.Leu352Met	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	46	20	NM_205850	0	0	0	0	0	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	8.507	0.865553	0.17250	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.71461	-0.57;-0.57	5.88	4.01	0.46588	Sodium/calcium exchanger membrane region (1);	0.062005	0.64402	D	0.000003	T	0.57814	0.2079	N	0.13235	0.315	0.58432	D	0.999991	D;D	0.53745	0.962;0.962	P;P	0.51866	0.611;0.682	T	0.57010	-0.7884	10	0.02654	T	1	.	12.624	0.56620	0.0:0.8662:0.0:0.1338	.	292;352	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	M	352;292	ENSP00000341550:L352M;ENSP00000389966:L292M	ENSP00000341550:L352M	L	+	1	2	SLC24A5	46218640	0.509000	0.26163	0.998000	0.56505	0.990000	0.78478	1.099000	0.31013	0.836000	0.34901	0.655000	0.94253	CTG	.		0.308	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		A	48431348	C	A	48431348	3	1	31	1	0	0	0	0	1	0	0	0	14514	680	24	3	1080	3	SLC24A5	15	48431348	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3021615	48431348	54100044	1786	7338											
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	48802361	48802361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccattctgtaaacactcatCaatgtctaaaatcaaagttt	4	9	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:48802361C>A	ENST00000316623.5	-	14	2049	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	532	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAACACTCATCAATGTCTAAA	0.383																																					p.D532Y		.											.	FBN1-92	0			c.G1594T						.						72	66	68					15																	48802361		2197	4296	6493	SO:0001583	missense	2200	exon14			ACTCATCAATGTC	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1594G>T	15.37:g.48802361C>A	ENSP00000325527:p.Asp532Tyr	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	88	16	NM_000138	0	0	0	0	0	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835939	0.71373	.	.	ENSG00000166147	ENST00000316623	D	0.95656	-3.77	5.5	5.5	0.81552	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	0.98848	0.9611	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99364	1.0918	10	0.87932	D	0	.	18.3167	0.90224	0.0:1.0:0.0:0.0	.	532	P35555	FBN1_HUMAN	Y	532	ENSP00000325527:D532Y	ENSP00000325527:D532Y	D	-	1	0	FBN1	46589653	1.000000	0.71417	0.999000	0.59377	0.349000	0.29174	7.776000	0.85560	2.736000	0.93811	0.591000	0.81541	GAT	.		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48802361	C	A	48802361	3	1	31	1	0	0	0	0	1	0	0	0	5724	826	29	3	7233	3	FBN1	15	48802361	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	371013	48802361	53729031	1787	7339											
SHC4	399694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	49135625	49135625	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttccgcagtgccatgggctCcccagtggttgggctgacct	13	14	0	1	rs376641206		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:49135625C>A	ENST00000332408.4	-	10	1892	c.1464G>T	c.(1462-1464)ggG>ggT	p.G488G	SHC4_ENST00000537958.1_Silent_p.G202G|SHC4_ENST00000396535.3_Silent_p.G245G	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	488	CH1.				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)		GCCATGGGCTCCCCAGTGGTT	0.448																																					p.G488G		.											.	SHC4-95	0			c.G1464T						.	C		1,4393	2.1+/-5.4	0,1,2196	154	149	151		1464	1.9	0.9	15		151	0,8590		0,0,4295	no	coding-synonymous	SHC4	NM_203349.3		0,1,6491	AA,AC,CC		0.0,0.0228,0.0077		488/631	49135625	1,12983	2197	4295	6492	SO:0001819	synonymous_variant	399694	exon10			TGGGCTCCCCAGT	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.1464G>T	15.37:g.49135625C>A		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	158	32	NM_203349	0	0	0	0	0	Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																			.		0.448	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		A	49135625	C	A	49135625	2	1	31	1	0	0	0	0	0	0	0	1	14318	842	30	3		3	SHC4	15	49135625	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	333264	49135625	53395767	1788	7340											
DTWD1	56986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	49926822	49926822	+	Frame_Shift_Del	DEL	C	C	-													attcaaaataatgttagaggCaaaaatgatgaccctgacaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:49926822delC	ENST00000251250.6	+	5	705	c.498delC	c.(496-498)ggcfs	p.G166fs	DTWD1_ENST00000415425.1_Frame_Shift_Del_p.G79fs|DTWD1_ENST00000558653.1_Frame_Shift_Del_p.G166fs|DTWD1_ENST00000403028.3_Frame_Shift_Del_p.G166fs|DTWD1_ENST00000559223.1_3'UTR	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	166										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATGTTAGAGGCAAAAATGATG	0.358																																					p.G166fs		.											.	DTWD1-226	0			c.498delC						.						55	58	57					15																	49926822		2196	4295	6491	SO:0001589	frameshift_variant	56986	exon4			TAGAGGCAAAAAT	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.498delC	15.37:g.49926822delC	ENSP00000251250:p.Gly166fs	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	96	21	NM_001144955	0	0	0	0	0	Q567Q3|Q8WVG9|Q9NRU6	Frame_Shift_Del	DEL	ENST00000251250.6	37	CCDS10132.1																																																																																			.		0.358	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		-	49926822	C	-	49926822	7	5	31	1	0	1	0	1	0	0	0	0	4805	697	25	0	508	0	DTWD1	15	49926822	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	791197	49926822	52604570	1789	7341											
ATP8B4	79895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	50212566	50212566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgtcatccaggtctctGtatgcgatggccaaggtccg	11	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50212566G>A	ENST00000284509.6	-	18	1941	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ATP8B4_ENST00000559829.1_Silent_p.Y600Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	600						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGGTCTCTGTATGCGATGG	0.453																																					p.Y600Y		.											.	ATP8B4-140	0			c.C1800T						.						95	86	89					15																	50212566		2196	4295	6491	SO:0001819	synonymous_variant	79895	exon18			GTCTCTGTATGCG	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1800C>T	15.37:g.50212566G>A		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	116	32	NM_024837	0	0	0	0	0	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																			.		0.453	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50212566	G	A	50212566	2	1	31	1	0	0	0	0	0	0	0	1	1198	1372	48	3		3	ATP8B4	15	50212566	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	285744	50212566	52318826	1790	7342											
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	50897135	50897135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctagcaaacgcacataCcaaaatattatgttaagaca	4	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50897135C>A	ENST00000313478.7	-	21	3197	c.2916G>T	c.(2914-2916)tgG>tgT	p.W972C	TRPM7_ENST00000560955.1_Missense_Mutation_p.W972C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	972					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACGCACATACCAAAATATTA	0.328																																					p.W972C		.											.	TRPM7-392	0			c.G2916T						.						76	71	73					15																	50897135		1818	4079	5897	SO:0001583	missense	54822	exon21			CACATACCAAAAT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2916G>T	15.37:g.50897135C>A	ENSP00000320239:p.Trp972Cys	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	134	47	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253489	0.80135	.	.	ENSG00000092439	ENST00000313478	T	0.74315	-0.83	5.63	5.63	0.86233	Ion transport (1);	0.059198	0.64402	D	0.000001	D	0.88440	0.6437	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.89820	0.3988	10	0.87932	D	0	-4.4907	19.6692	0.95905	0.0:1.0:0.0:0.0	.	972	Q96QT4	TRPM7_HUMAN	C	972	ENSP00000320239:W972C	ENSP00000320239:W972C	W	-	3	0	TRPM7	48684427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.648000	0.89879	0.585000	0.79938	TGG	.		0.328	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		A	50897135	C	A	50897135	3	1	31	1	0	0	0	0	1	0	0	0	16639	508	18	3	2757	3	TRPM7	15	50897135	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	684569	50897135	51634257	1791	7343											
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	50941083	50941083	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcgaccacaaaaacacCtaaaagaaaaaggtgagatt	7	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50941083C>A	ENST00000313478.7	-	4	404		c.e4-1		TRPM7_ENST00000560955.1_Splice_Site	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAAAAACACCTAAAAGAAAA	0.328																																					.		.											.	TRPM7-392	0			c.123-1G>T						.						48	41	43					15																	50941083		1785	4066	5851	SO:0001630	splice_region_variant	54822	exon5			AAACACCTAAAAG	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.123-1G>T	15.37:g.50941083C>A		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	19	5	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Splice_Site	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134603	0.77662	.	.	ENSG00000092439	ENST00000313478	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1315	0.86727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM7	48728375	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.285000	0.78660	2.282000	0.76494	0.591000	0.81541	.	.		0.328	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	Intron	A	50941083	C	A	50941083	5	1	31	1	0	0	0	0	0	0	1	0	16639	695	24	3	5619	3	TRPM7	15	50941083	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	43948	50941083	51590309	1792	7344											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	54305438	54305438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagtaaccaacagtgataAtgaggatctgcttcaagagc	9	7	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:54305438A>C	ENST00000260323.11	+	1	338	c.338A>C	c.(337-339)aAt>aCt	p.N113T	UNC13C_ENST00000537900.1_Missense_Mutation_p.N113T|UNC13C_ENST00000545554.1_Missense_Mutation_p.N113T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	113					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)		AACAGTGATAATGAGGATCTG	0.423																																					p.N113T		.											.	UNC13C-51	0			c.A338C						.						48	45	46					15																	54305438		1912	4136	6048	SO:0001583	missense	440279	exon1			GTGATAATGAGGA	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.338A>C	15.37:g.54305438A>C	ENSP00000260323:p.Asn113Thr	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	85	31	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	6.902	0.535909	0.13188	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.31;-1.31	5.09	2.81	0.32909	.	.	.	.	.	T	0.68100	0.2964	N	0.24115	0.695	0.29732	N	0.837775	B	0.17667	0.023	B	0.23018	0.043	T	0.63143	-0.6703	9	0.54805	T	0.06	.	8.105	0.30881	0.835:0.0:0.165:0.0	.	113	Q8NB66	UN13C_HUMAN	T	113	ENSP00000260323:N113T;ENSP00000438156:N113T;ENSP00000442569:N113T	ENSP00000260323:N113T	N	+	2	0	UNC13C	52092730	1.000000	0.71417	0.501000	0.27601	0.006000	0.05464	7.454000	0.80714	0.792000	0.33850	0.533000	0.62120	AAT	.		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54305438	A	C	54305438	3	2	31	1	0	0	0	0	1	0	0	0	17035	101	4	5	340	5	UNC13C	15	54305438	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3364355	54305438	48225954	1793	7345											
C2CD4A	145741	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	62359893	62359893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccgggtcgggcccgCggagccaagtctcgcaccac	12	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:62359893C>A	ENST00000355522.5	+	2	222	c.81C>A	c.(79-81)cgC>cgA	p.R27R		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	27						nucleus (GO:0005634)											GTCGGGCCCGCGGAGCCAAGT	0.687																																					p.R27R		.											.	C2CD4A-68	0			c.C81A						.						17	20	19					15																	62359893		2200	4296	6496	SO:0001819	synonymous_variant	145741	exon2			GGCCCGCGGAGCC	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.81C>A	15.37:g.62359893C>A		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	77	38	NM_207322	0	0	0	0	0		Silent	SNP	ENST00000355522.5	37	CCDS32258.1																																																																																			.		0.687	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		A	62359893	C	A	62359893	2	1	31	1	0	0	0	0	0	0	0	1	2162	755	27	2		2	C2CD4A	15	62359893	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8054455	62359893	40171499	1794	7346											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63031744	63031744	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatggctggccaagctcaGgtgggtgtggaggtggttgt	20	5	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:63031744G>T	ENST00000561311.1	+	30	4115	c.3885G>T	c.(3883-3885)caG>caT	p.Q1295H	TLN2_ENST00000306829.6_Splice_Site_p.Q1295H|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1295					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						GCCAAGCTCAGGTGGGTGTGG	0.522																																					p.Q1295H		.											.	TLN2-573	0			c.G3885T						.						107	98	101					15																	63031744		2203	4300	6503	SO:0001630	splice_region_variant	83660	exon28			AGCTCAGGTGGGT	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.3885+1G>T	15.37:g.63031744G>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	155	74	NM_015059	0	0	0	0	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530355	0.64860	.	.	ENSG00000171914	ENST00000306829	T	0.15372	2.43	4.54	4.54	0.55810	.	0.051221	0.85682	D	0.000000	T	0.25306	0.0615	M	0.64997	1.995	0.80722	D	1	D	0.54397	0.966	P	0.48873	0.593	T	0.01084	-1.1457	10	0.49607	T	0.09	-14.4127	12.2536	0.54611	0.0925:0.0:0.9075:0.0	.	1295	Q9Y4G6	TLN2_HUMAN	H	1295	ENSP00000303476:Q1295H	ENSP00000303476:Q1295H	Q	+	3	2	TLN2	60819036	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.099000	0.50267	2.466000	0.83321	0.585000	0.79938	CAG	.		0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation	T	63031744	G	T	63031744	5	4	31	1	0	0	0	0	0	0	1	0	15995	1014	35	3	3995	3	TLN2	15	63031744	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	671851	63031744	39499648	1795	7347											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	31	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	382339	63414083	39117309	1796	7348											
C15orf44	81556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65884016	65884016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaagagagacatcatgaggTttgatttcttcttgctgtca	9	7	4	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:65884016T>A	ENST00000395644.4	-	9	1375	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	VWA9_ENST00000313182.2_Missense_Mutation_p.N347I|VWA9_ENST00000567744.1_Missense_Mutation_p.N383I|VWA9_ENST00000431261.2_Missense_Mutation_p.N268I|VWA9_ENST00000569491.1_Missense_Mutation_p.N297I|VWA9_ENST00000442903.3_Missense_Mutation_p.N311I|VWA9_ENST00000420799.2_Missense_Mutation_p.N290I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	347																	CATCATGAGGTTTGATTTCTT	0.468																																					p.N329I		.											.	.	0			c.A986T						.						141	121	127					15																	65884016		2201	4299	6500	SO:0001583	missense	81556	exon9			ATGAGGTTTGATT	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.1040A>T	15.37:g.65884016T>A	ENSP00000379006:p.Asn347Ile	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	107	44	NM_001207058	0	0	0	0	0	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37		.	.	.	.	.	.	.	.	.	.	T	31	5.061577	0.93846	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.81048	-0.1109	9	0.87932	D	0	-28.8381	16.5582	0.84512	0.0:0.0:0.0:1.0	.	297;311;383;347	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	I	347;347;268;290;311	.	ENSP00000326379:N347I	N	-	2	0	C15orf44	63671069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.967000	0.87967	2.308000	0.77769	0.533000	0.62120	AAC	.		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		A	65884016	T	A	65884016	3	1	31	1	0	0	0	0	1	0	0	0	1803	1725	60	5	532	5	C15orf44	15	65884016	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2469933	65884016	36647376	1797	7349											
NOX5	79400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	69347714	69347714	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtacatgacatctgcactGggcaagaatgacatgaaggc	11	8	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:69347714G>T	ENST00000388866.3	+	15	2081	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	NOX5_ENST00000530406.2_Silent_p.L652L|NOX5_ENST00000448182.3_Silent_p.L634L|NOX5_ENST00000455873.3_Silent_p.L645L|NOX5_ENST00000260364.5_Silent_p.L662L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	680					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						CATCTGCACTGGGCAAGAATG	0.592																																					p.L680L		.											.	NOX5-136	0			c.G2040T						.						61	52	55					15																	69347714		2200	4298	6498	SO:0001819	synonymous_variant	79400	exon15			TGCACTGGGCAAG	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.2040G>T	15.37:g.69347714G>T		Somatic	199	0		WXS	Illumina GAIIx	Phase_I	161	32	NM_024505	0	0	0	0	0	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																			.		0.592	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69347714	G	T	69347714	2	4	31	1	0	0	0	0	0	0	0	1	10598	1335	47	3		3	NOX5	15	69347714	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3463698	69347714	33183678	1798	7350											
PKM2	5315	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	72502105	72502105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgttcttgtagtccagCcacaggatgttctcgtcaca	9	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:72502105C>A	ENST00000335181.5	-	5	577	c.474G>T	c.(472-474)tgG>tgT	p.W158C	PKM_ENST00000568459.1_Missense_Mutation_p.W158C|PKM_ENST00000389093.3_Missense_Mutation_p.W158C|PKM_ENST00000565154.1_Missense_Mutation_p.W158C|PKM_ENST00000449901.2_Missense_Mutation_p.W143C|PKM_ENST00000319622.6_Missense_Mutation_p.W158C|PKM_ENST00000568883.1_Intron|PKM_ENST00000565184.1_Missense_Mutation_p.W158C	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	158					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TGTAGTCCAGCCACAGGATGT	0.512																																					p.W232C		.											.	.	0			c.G696T						.						240	208	219					15																	72502105		2199	4297	6496	SO:0001583	missense	5315	exon6			GTCCAGCCACAGG	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.474G>T	15.37:g.72502105C>A	ENSP00000334983:p.Trp158Cys	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	124	55	NM_001206796	0	0	0	0	0	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860628	0.91433	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000389093;ENST00000449901	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.47	5.47	0.80525	Pyruvate/Phosphoenolpyruvate kinase (1);Pyruvate kinase, beta-barrel insert domain (1);Pyruvate kinase-like, insert domain (1);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.92469	0.7609	L	0.39633	1.23	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	0.997;0.998;1.0;0.991;0.996;1.0	D	0.92781	0.6240	10	0.66056	D	0.02	-8.7958	19.6948	0.96021	0.0:1.0:0.0:0.0	.	84;143;138;138;158;158	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2	.;.;.;.;KPYM_HUMAN;.	C	158;158;85;158;143	ENSP00000320171:W158C;ENSP00000334983:W158C;ENSP00000373745:W158C;ENSP00000403365:W143C	ENSP00000320171:W158C	W	-	3	0	PKM2	70289159	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.760000	0.85248	2.723000	0.93209	0.655000	0.94253	TGG	.		0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			A	72502105	C	A	72502105	3	1	31	1	0	0	0	0	1	0	0	0	12016	740	26	3	1320	3	PKM2	15	72502105	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3154391	72502105	30029287	1799	7351											
ULK3	25989	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	75132951	75132952	+	Missense_Mutation	DNP	CC	CC	AA													cggagcacgtgcttctcatcCcacggggacatgtgttgtgc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:75132951_75132952CC>AA	ENST00000440863.2	-	5	591_592	c.500_501GG>TT	c.(499-501)tGG>tTT	p.W167F	ULK3_ENST00000568667.1_Missense_Mutation_p.W178F|ULK3_ENST00000569437.1_Missense_Mutation_p.W167F	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCTTCTCATCCCACGGGGACAT	0.609																																					p.W178F		.											.	ULK3-290	0			c.G500T						.																																			SO:0001583	missense	25989	exon5			TCATCCCACGGGG	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.500_501delinsAA	15.37:g.75132951_75132952delinsAA	ENSP00000400312:p.Trp167Phe	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	143	5	NM_001099436	0	0	0	0	0	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	DNP	ENST00000440863.2	37	CCDS45305.1																																																																																			.		0.609	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		AA	75132952	CC	AA	75132951	3	1	31	1	0	0	0	0	1	0	0	0	17026	624	22	3	965	3	ULK3	15	75132951	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	2630846	75132951	27398441	1800	7352											
TBC1D2B	23102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	78290603	78290603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctccagctcggtcagctCcagccggactttctccaagt	10	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:78290603C>T	ENST00000300584.3	-	13	2790	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Nonsense_Mutation_p.W913*|RP11-114H24.6_ENST00000562716.1_RNA	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	931							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						TCGGTCAGCTCCAGCCGGACT	0.612																																					p.W913X		.											.	TBC1D2B-136	0			c.G2739A						.						37	30	33					15																	78290603		2196	4291	6487	SO:0001583	missense	23102	exon13			TCAGCTCCAGCCG	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.2791G>A	15.37:g.78290603C>T	ENSP00000300584:p.Glu931Lys	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	210	41	NM_015079	0	0	0	0	0	A7MD42|Q8N1F9|Q9NXM0	Nonsense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	35|35	5.586293|5.586293	0.96578|0.96578	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000300584|ENST00000418039;ENST00000409931	T|.	0.11063|.	2.81|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|1.814360	.|0.03602	.|N	.|0.233481	T|.	0.76414|.	0.3984|.	.|.	.|.	.|.	0.42902|0.42902	D|D	0.994237|0.994237	D|.	0.76494|.	0.999|.	D|.	0.65140|.	0.932|.	T|.	0.62728|.	-0.6793|.	8|.	0.59425|0.66056	D|D	0.04|0.02	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	931|.	Q9UPU7|.	TBD2B_HUMAN|.	K|X	931|812;913	ENSP00000300584:E931K|.	ENSP00000300584:E931K|ENSP00000387165:W913X	E|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76077658|76077658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.065000|0.065000	0.16274|0.16274	7.726000|7.726000	0.84824|0.84824	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAG|TGG	.		0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		T	78290603	C	T	78290603	3	4	31	1	0	0	0	0	1	0	0	0	15666	865	30	3	104	3	TBC1D2B	15	78290603	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3157652	78290603	24240789	1801	7353											
RASGRF1	5923	broad.mit.edu;bcgsc.ca	37	chr15	79290536	79290536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcatttgagctcatcGttggtctcaaagtcctgccg	9	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79290536G>A	ENST00000419573.3	-	20	3190	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	RASGRF1_ENST00000558480.2_Silent_p.N956N|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.N188N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	972					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGAGCTCATCGTTGGTCTCAA	0.577																																					p.N972N		.											.	RASGRF1-662	0			c.C2916T						.						142	113	123					15																	79290536		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon20			CTCATCGTTGGTC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2916C>T	15.37:g.79290536G>A		Somatic	238	0		WXS	Illumina GAIIx	Phase_I	244	8	NM_002891	0	0	0	0	0	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																			.		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79290536	G	A	79290536	2	1	31	1	0	0	0	0	0	0	0	1	13117	1136	40	1		1	RASGRF1	15	79290536	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	999933	79290536	23240856	1802	7354											
KIAA1024	23251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	79749156	79749156	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccccatgaacatcgaaaacGagtccatttcagaccaggac	7	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79749156G>C	ENST00000305428.3	+	2	742	c.667G>C	c.(667-669)Gag>Cag	p.E223Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	223						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						CATCGAAAACGAGTCCATTTC	0.547																																					p.E223Q		.											.	KIAA1024-183	0			c.G667C						.						83	84	83					15																	79749156		2196	4293	6489	SO:0001583	missense	23251	exon2			GAAAACGAGTCCA	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.667G>C	15.37:g.79749156G>C	ENSP00000307461:p.Glu223Gln	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	158	41	NM_015206	0	0	0	0	0	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246555	0.39697	.	.	ENSG00000169330	ENST00000305428	T	0.35605	1.3	5.37	5.37	0.77165	.	0.103760	0.64402	D	0.000004	T	0.31575	0.0801	L	0.52364	1.645	0.58432	D	0.99999	P	0.34757	0.467	B	0.29077	0.098	T	0.07158	-1.0787	9	.	.	.	.	14.689	0.69070	0.0:0.145:0.855:0.0	.	223	Q9UPX6	K1024_HUMAN	Q	223	ENSP00000307461:E223Q	.	E	+	1	0	KIAA1024	77536211	1.000000	0.71417	0.368000	0.25939	0.855000	0.48748	7.023000	0.76437	2.497000	0.84241	0.591000	0.81541	GAG	.		0.547	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		C	79749156	G	C	79749156	3	2	31	1	0	0	0	0	1	0	0	0	8232	1059	37	2	669	2	KIAA1024	15	79749156	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	458620	79749156	22782236	1803	7355											
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	80767372	80767372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aactgaagcatctcatccttGaagcagctgatggatttctg	9	9	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80767372G>C	ENST00000303329.4	+	5	595	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	ARNT2_ENST00000527771.1_Missense_Mutation_p.E133Q|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.E133Q	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	144	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTCATCCTTGAAGCAGCTGA	0.463																																					p.E144Q		.											.	ARNT2-175	0			c.G430C						.						274	277	276					15																	80767372		2203	4300	6503	SO:0001583	missense	9915	exon5			ATCCTTGAAGCAG	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.430G>C	15.37:g.80767372G>C	ENSP00000307479:p.Glu144Gln	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	47	20	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650070	0.87958	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.04862	3.54	4.65	4.65	0.58169	PAS (2);Helix-loop-helix DNA-binding (1);PAS fold (1);	0.101623	0.64402	D	0.000003	T	0.17959	0.0431	L	0.40543	1.245	0.80722	D	1	P;P	0.52061	0.938;0.95	D;P	0.69824	0.966;0.817	T	0.01084	-1.1457	10	0.42905	T	0.14	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	144;144	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	Q	133;144;144	ENSP00000307479:E144Q	ENSP00000307479:E144Q	E	+	1	0	ARNT2	78554427	1.000000	0.71417	0.708000	0.30435	0.988000	0.76386	8.792000	0.91856	2.404000	0.81709	0.549000	0.68633	GAA	.		0.463	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			C	80767372	G	C	80767372	3	2	31	1	0	0	0	0	1	0	0	0	967	1291	45	3	448	3	ARNT2	15	80767372	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1018216	80767372	21764020	1804	7356											
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	80800576	80800576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtgcatgggctcgcgGcggtctttcatctgcaggat	15	9	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80800576G>A	ENST00000303329.4	+	6	867	c.702G>A	c.(700-702)cgG>cgA	p.R234R	ARNT2_ENST00000527771.1_Silent_p.R223R|ARNT2_ENST00000533983.1_Silent_p.R223R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	234					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGGGCTCGCGGCGGTCTTTCA	0.547																																					p.R234R		.											.	ARNT2-175	0			c.G702A						.						107	93	98					15																	80800576		2203	4300	6503	SO:0001819	synonymous_variant	9915	exon6			CTCGCGGCGGTCT	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.702G>A	15.37:g.80800576G>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	128	65	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																			.		0.547	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80800576	G	A	80800576	2	1	31	1	0	0	0	0	0	0	0	1	967	1190	42	3		3	ARNT2	15	80800576	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	33204	80800576	21730816	1805	7357											
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	80869292	80869292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatttccctctggacactcCgggaaggccttcaggtatgt	10	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80869292C>A	ENST00000303329.4	+	15	1764	c.1599C>A	c.(1597-1599)tcC>tcA	p.S533S	ARNT2_ENST00000527771.1_Silent_p.S522S|ARNT2_ENST00000533983.1_Silent_p.S522S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	533					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTGGACACTCCGGGAAGGCCT	0.577																																					p.S533S		.											.	ARNT2-175	0			c.C1599A						.						99	90	93					15																	80869292		2203	4300	6503	SO:0001819	synonymous_variant	9915	exon15			ACACTCCGGGAAG	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1599C>A	15.37:g.80869292C>A		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	128	22	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																			.		0.577	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80869292	C	A	80869292	2	1	31	1	0	0	0	0	0	0	0	1	967	639	23	2		2	ARNT2	15	80869292	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	68716	80869292	21662100	1806	7358											
KIAA1199	57214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81218065	81218065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaccacggggcctggctgCgcggcggggatgtgtggctg	21	10	0	0	rs376686079		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:81218065C>A	ENST00000394685.3	+	19	2808	c.2389C>A	c.(2389-2391)Cgc>Agc	p.R797S	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R797S|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R797S			Q8WUJ3	CEMIP_HUMAN		797					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						GGCCTGGCTGCGCGGCGGGGA	0.657																																					p.R797S		.											.	KIAA1199-93	0			c.C2389A						.						26	30	29					15																	81218065		2202	4299	6501	SO:0001583	missense	57214	exon18			TGGCTGCGCGGCG																												ENST00000394685.3:c.2389C>A	15.37:g.81218065C>A	ENSP00000378177:p.Arg797Ser	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	131	61	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974846	0.74360	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.60920	0.15;0.15;0.15	4.55	4.55	0.56014	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.90977	3.165	0.49130	D	0.999754	D	0.89917	1.0	D	0.81914	0.995	D	0.84151	0.0423	10	0.45353	T	0.12	-21.304	17.4776	0.87664	0.0:1.0:0.0:0.0	.	797	Q8WUJ3	K1199_HUMAN	S	797	ENSP00000220244:R797S;ENSP00000378177:R797S;ENSP00000348583:R797S	ENSP00000220244:R797S	R	+	1	0	KIAA1199	79005120	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	0.897000	0.28390	2.348000	0.79779	0.462000	0.41574	CGC	.		0.657	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81218065	C	A	81218065	3	1	31	1	0	0	0	0	1	0	0	0	8240	768	27	2	2455	2	KIAA1199	15	81218065	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	348773	81218065	21313327	1807	7359											
KIAA1199	57214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81224296	81224296	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctggagggccggcacacCagcgccctggccttccgcct	13	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:81224296C>A	ENST00000394685.3	+	22	3128	c.2709C>A	c.(2707-2709)acC>acA	p.T903T	KIAA1199_ENST00000220244.3_Silent_p.T903T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.T903T			Q8WUJ3	CEMIP_HUMAN		903					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						GCCGGCACACCAGCGCCCTGG	0.547																																					p.T903T		.											.	KIAA1199-93	0			c.C2709A						.						88	99	95					15																	81224296		2203	4300	6503	SO:0001819	synonymous_variant	57214	exon21			GCACACCAGCGCC																												ENST00000394685.3:c.2709C>A	15.37:g.81224296C>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	55	20	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81224296	C	A	81224296	2	1	31	1	0	0	0	0	0	0	0	1	8240	581	21	3		3	KIAA1199	15	81224296	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6231	81224296	21307096	1808	7360											
FAM154B	283726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	82574573	82574573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttcaggatgattttgttCctcaggagataaagcctagg	10	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:82574573C>T	ENST00000339465.5	+	3	436	c.367C>T	c.(367-369)Cct>Tct	p.P123S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P108S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	123										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TGATTTTGTTCCTCAGGAGAT	0.393																																					p.P123S		.											.	FAM154B-70	0			c.C367T						.						126	128	127					15																	82574573		2203	4300	6503	SO:0001583	missense	283726	exon3			TTTGTTCCTCAGG	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.367C>T	15.37:g.82574573C>T	ENSP00000340445:p.Pro123Ser	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	140	15	NM_001008226	0	0	0	0	0	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137934	0.37728	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17054	2.3;2.3	3.9	3.9	0.45041	.	0.161882	0.41097	D	0.000942	T	0.39655	0.1086	M	0.79475	2.455	0.34548	D	0.711003	D;D	0.89917	0.997;1.0	D;D	0.77557	0.969;0.99	T	0.51156	-0.8741	10	0.12103	T	0.63	-14.0358	16.4015	0.83642	0.0:1.0:0.0:0.0	.	108;123	B4E2M2;Q658L1	.;F154B_HUMAN	S	123;108	ENSP00000340445:P123S;ENSP00000403743:P108S	ENSP00000340445:P123S	P	+	1	0	FAM154B	80361628	0.980000	0.34600	0.061000	0.19648	0.739000	0.42172	3.608000	0.54109	2.158000	0.67659	0.536000	0.68110	CCT	.		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		T	82574573	C	T	82574573	3	4	31	1	0	0	0	0	1	0	0	0	5483	855	30	3	377	3	FAM154B	15	82574573	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1350277	82574573	19956819	1809	7361											
AKAP13	11214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86124843	86124843	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagcccaaatagacgatGaagcacatcctgtcctactg	9	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86124843G>A	ENST00000394518.2	+	7	3639	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E1182K|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1182					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						AATAGACGATGAAGCACATCC	0.562																																					p.E1182K	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.G3544A						.						81	80	80					15																	86124843		2202	4299	6501	SO:0001583	missense	11214	exon7			GACGATGAAGCAC	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.3544G>A	15.37:g.86124843G>A	ENSP00000378026:p.Glu1182Lys	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	139	22	NM_007200	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942539	0.34283	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.15487	2.42;2.42	5.11	-1.31	0.09230	.	.	.	.	.	T	0.08044	0.0201	N	0.17082	0.46	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.33620	0.08;0.167	T	0.29941	-0.9995	9	0.33141	T	0.24	.	4.8945	0.13744	0.4445:0.1528:0.4027:0.0	.	1182;1182	Q12802;Q12802-2	AKP13_HUMAN;.	K	1182;1182;1181;1181	ENSP00000354718:E1182K;ENSP00000378026:E1182K	ENSP00000354718:E1182K	E	+	1	0	AKAP13	83925847	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.229000	0.17833	-0.302000	0.08869	-0.145000	0.13849	GAA	.		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86124843	G	A	86124843	3	1	31	1	0	0	0	0	1	0	0	0	449	1291	45	3	3566	3	AKAP13	15	86124843	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3550270	86124843	16406549	1810	7362											
KLHL25	64410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86312878	86312878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggtgacaggggaaggcaCggtcgcccgcccagagtgtg	17	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86312878C>A	ENST00000337975.5	-	2	438	c.164G>T	c.(163-165)cGt>cTt	p.R55L	KLHL25_ENST00000536947.1_Missense_Mutation_p.R55L|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	55	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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						GGGGAAGGCACGGTCGCCCGC	0.632																																					p.R55L		.											.	KLHL25-92	0			c.G164T						.						54	54	54					15																	86312878		2202	4299	6501	SO:0001583	missense	64410	exon2			AAGGCACGGTCGC		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.164G>T	15.37:g.86312878C>A	ENSP00000336800:p.Arg55Leu	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	213	50	NM_022480	0	0	0	0	0	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435761	0.62955	.	.	ENSG00000183655	ENST00000337975;ENST00000536947	T;T	0.67698	-0.28;-0.28	4.85	4.85	0.62838	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.72353	2.195	0.50313	D	0.999867	B	0.27450	0.179	B	0.33690	0.168	T	0.69669	-0.5083	10	0.42905	T	0.14	.	16.9559	0.86259	0.0:1.0:0.0:0.0	.	55	Q9H0H3	ENC2_HUMAN	L	55	ENSP00000336800:R55L;ENSP00000444739:R55L	ENSP00000336800:R55L	R	-	2	0	KLHL25	84113882	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	4.880000	0.63107	2.247000	0.74100	0.462000	0.41574	CGT	.		0.632	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		A	86312878	C	A	86312878	3	1	31	1	0	0	0	0	1	0	0	0	8407	536	19	2	1609	2	KLHL25	15	86312878	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	188035	86312878	16218514	1811	7363											
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	86697774	86697774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactgtctctgggctctgCgtgtgtttgcctccagtggt	12	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86697774C>A	ENST00000441037.2	+	3	333	c.238C>A	c.(238-240)Cgt>Agt	p.R80S	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGGGCTCTGCGTGTGTTTGC	0.537																																					p.R80S		.											.	.	0			c.C238A						.						98	100	100					15																	86697774		2031	4191	6222	SO:0001583	missense	123624	exon3			GCTCTGCGTGTGT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.238C>A	15.37:g.86697774C>A	ENSP00000413001:p.Arg80Ser	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	94	15	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075077	0.76415	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.44881	0.91	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.46889	0.1416	M	0.78637	2.42	0.80722	D	1	P	0.43024	0.798	B	0.39503	0.301	T	0.53968	-0.8363	9	0.52906	T	0.07	-10.842	15.032	0.71713	0.0:1.0:0.0:0.0	.	80	Q96MI9	CBPC4_HUMAN	S	109;80	ENSP00000397173:R80S	ENSP00000397173:R80S	R	+	1	0	AGBL1	84498778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.925000	0.40074	2.683000	0.91414	0.650000	0.86243	CGT	.		0.537	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	86697774	C	A	86697774	3	1	31	1	0	0	0	0	1	0	0	0	375	768	27	2	244	2	AGBL1	15	86697774	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	384896	86697774	15833618	1812	7364											
AGBL1	123624	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	86790916	86790916	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagtcgaacggccgcAgagcagtgaaccgaggctac	13	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86790916A>T	ENST00000441037.2	+	6	498	c.403A>T	c.(403-405)Aga>Tga	p.R135*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.R135*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	135					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAACGGCCGCAGAGCAGTGAA	0.577																																					p.R135X		.											.	.	0			c.A403T						.						22	24	23					15																	86790916		2111	4236	6347	SO:0001587	stop_gained	123624	exon6			GGCCGCAGAGCAG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.403A>T	15.37:g.86790916A>T	ENSP00000413001:p.Arg135*	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	176	48	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	37	6.634788	0.97722	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	.	.	.	5.16	-0.558	0.11796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3071	14.1519	0.65392	0.3003:0.6997:0.0:0.0	.	.	.	.	X	164;135	.	ENSP00000397173:R135X	R	+	1	2	AGBL1	84591920	0.767000	0.28508	0.998000	0.56505	0.926000	0.56050	1.290000	0.33319	-0.040000	0.13580	0.459000	0.35465	AGA	.		0.577	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86790916	A	T	86790916	4	4	31	1	0	0	0	0	0	1	0	0	375	180	7	5	421	5	AGBL1	15	86790916	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	93142	86790916	15740476	1813	7365											
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86800211	86800211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatgccttcccggtccccgGgtgcatcaccactgaacctc	8	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86800211G>T	ENST00000441037.2	+	7	820	c.725G>T	c.(724-726)gGg>gTg	p.G242V	AGBL1_ENST00000421325.2_Missense_Mutation_p.G242V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	242					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCGGTCCCCGGGTGCATCACC	0.502																																					p.G242V		.											.	.	0			c.G725T						.						69	70	69					15																	86800211		2032	4192	6224	SO:0001583	missense	123624	exon7			TCCCCGGGTGCAT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.725G>T	15.37:g.86800211G>T	ENSP00000413001:p.Gly242Val	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	117	29	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.190798	0.01607	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.36340	1.26	5.93	3.03	0.35002	Armadillo-type fold (1);	0.176297	0.35235	N	0.003352	T	0.24353	0.0590	L	0.43701	1.375	0.80722	D	1	P	0.43287	0.802	B	0.38616	0.277	T	0.05131	-1.0904	10	0.14656	T	0.56	-11.9721	7.0516	0.25075	0.1499:0.1417:0.7084:0.0	.	242	Q96MI9	CBPC4_HUMAN	V	271;242	ENSP00000397173:G242V	ENSP00000397173:G242V	G	+	2	0	AGBL1	84601215	0.942000	0.31987	0.039000	0.18376	0.047000	0.14425	1.547000	0.36190	0.396000	0.25283	0.655000	0.94253	GGG	.		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86800211	G	T	86800211	3	4	31	1	0	0	0	0	1	0	0	0	375	1232	43	3	747	3	AGBL1	15	86800211	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9295	86800211	15731181	1814	7366											
NTRK3	4916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	88423642	88423642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatccagcgaatggggagCatggtgtgtcctcccaccta	13	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:88423642C>A	ENST00000360948.2	-	18	2354	c.2193G>T	c.(2191-2193)atG>atT	p.M731I	NTRK3_ENST00000394480.2_Missense_Mutation_p.M717I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M709I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M717I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M723I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GAATGGGGAGCATGGTGTGTC	0.502			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																											p.M731I		.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	.	NTRK3-3538	0			c.G2193T						.						91	74	80					15																	88423642		2201	4299	6500	SO:0001583	missense	4916	exon19			GGGGAGCATGGTG	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.2193G>T	15.37:g.88423642C>A	ENSP00000354207:p.Met731Ile	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	90	49	NM_001012338	0	0	0	0	0	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837757	0.91117	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.49	5.49	0.81192	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	0.91476	0.7309	L	0.35542	1.07	0.80722	D	1	D;P;D	0.65815	0.995;0.752;0.985	D;P;D	0.70227	0.968;0.611;0.949	D	0.92397	0.5926	10	0.72032	D	0.01	.	17.9204	0.88964	0.0:1.0:0.0:0.0	.	709;717;731	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	I	717;731;723;717	ENSP00000377990:M717I;ENSP00000354207:M731I;ENSP00000350356:M723I;ENSP00000347397:M717I	ENSP00000347397:M717I	M	-	3	0	NTRK3	86224646	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.514000	0.81750	2.562000	0.86427	0.655000	0.94253	ATG	.		0.502	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88423642	C	A	88423642	3	1	31	1	0	0	0	0	1	0	0	0	10747	710	25	3	334	3	NTRK3	15	88423642	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1623431	88423642	14107750	1815	7367											
NTRK3	4916	broad.mit.edu	37	chr15	88678626	88678626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caggctcaccacacgtggggGatctgtcaagggagaagcct	14	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:88678626G>T	ENST00000360948.2	-	9	1071	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	NTRK3_ENST00000317501.3_Missense_Mutation_p.P304T|NTRK3_ENST00000542733.2_Missense_Mutation_p.P206T|NTRK3_ENST00000394480.2_Missense_Mutation_p.P304T|NTRK3_ENST00000557856.1_Missense_Mutation_p.P304T|NTRK3_ENST00000558676.1_Missense_Mutation_p.P304T|NTRK3_ENST00000355254.2_Missense_Mutation_p.P304T|NTRK3_ENST00000540489.2_Missense_Mutation_p.P304T|NTRK3_ENST00000357724.2_Missense_Mutation_p.P304T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	304					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)			ACACGTGGGGGATCTGTCAAG	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																											p.P304T		.		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	.	NTRK3-3538	0			c.C910A						.						24	26	25					15																	88678626		2201	4299	6500	SO:0001583	missense	4916	exon10			GTGGGGGATCTGT	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.910C>A	15.37:g.88678626G>T	ENSP00000354207:p.Pro304Thr	Somatic	47	1		WXS	Illumina GAIIx	Phase_I	45	8	NM_001243101	0	0	0	0	0	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460568	0.63513	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.994;0.996;0.988;0.994;0.999;0.988	D	0.89798	0.3973	10	0.87932	D	0	.	17.9266	0.88985	0.0:0.0:1.0:0.0	.	206;304;304;304;304;304	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	304;304;304;304;206;304;304	ENSP00000377990:P304T;ENSP00000354207:P304T;ENSP00000350356:P304T;ENSP00000347397:P304T;ENSP00000437773:P206T;ENSP00000444673:P304T;ENSP00000318328:P304T	ENSP00000318328:P304T	P	-	1	0	NTRK3	86479630	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	5.844000	0.69430	2.454000	0.82982	0.563000	0.77884	CCC	.		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88678626	G	T	88678626	3	4	31	1	0	0	0	0	1	0	0	0	10747	1174	41	3	1915	3	NTRK3	15	88678626	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	254984	88678626	13852766	1816	7368											
ACAN	176	bcgsc.ca	37	chr15	89386842	89386842	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccagacgggctacccCgacccctcatcccgctacga	8	20	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:89386842C>A	ENST00000561243.1	+	5	1014	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ACAN_ENST00000559004.1_Silent_p.P338P|ACAN_ENST00000558207.1_Silent_p.P338P|ACAN_ENST00000439576.2_Silent_p.P338P|ACAN_ENST00000352105.7_Silent_p.P338P			P16112	PGCA_HUMAN	aggrecan	338	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			CGGGCTACCCCGACCCCTCAT	0.642																																					p.P338P		.											.	ACAN-25	0			c.C1014A						.						50	54	53					15																	89386842		2044	4177	6221	SO:0001819	synonymous_variant	176	exon6			CTACCCCGACCCC	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.1014C>A	15.37:g.89386842C>A		Somatic	102	3		WXS	Illumina GAIIx	Phase_I	133	57	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																			.		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89386842	C	A	89386842	2	1	31	1	0	0	0	0	0	0	0	1	117	639	23	2		2	ACAN	15	89386842	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	708216	89386842	13144550	1817	7369											
LASS3	204219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	100996194	100996194	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtaggttgaggaagatGtatgaaaagaaaggctcgag	15	3	0	4	rs139946861	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:100996194G>T	ENST00000394113.1	-	13	1593	c.903C>A	c.(901-903)taC>taA	p.Y301*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.Y301*|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Nonsense_Mutation_p.Y301*			Q8IU89	CERS3_HUMAN	ceramide synthase 3	301	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAGGAAGATGTATGAAAAGA	0.393																																					p.Y301X		.											.	.	0			c.C903A						.						122	112	116					15																	100996194		2203	4300	6503	SO:0001587	stop_gained	204219	exon12			GAAGATGTATGAA		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.903C>A	15.37:g.100996194G>T	ENSP00000377672:p.Tyr301*	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	62	12	NM_178842	0	0	0	0	0	Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	G	40	8.354235	0.98774	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.66	3.8	0.43715	.	0.061535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6274	8.5714	0.33572	0.1752:0.0:0.8248:0.0	.	.	.	.	X	301;312;301	.	ENSP00000284382:Y301X	Y	-	3	2	CERS3	98813717	1.000000	0.71417	0.547000	0.28179	0.920000	0.55202	1.542000	0.36137	0.764000	0.33197	0.655000	0.94253	TAC	G|0.997;A|0.003		0.393	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		T	100996194	G	T	100996194	4	4	31	1	0	0	0	0	0	1	0	0	8668	1372	48	3	256	3	LASS3	15	100996194	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	11609352	100996194	1535198	1818	7370											
LRRK1	79705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	101565124	101565124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctggaacctggcgctGggggaggaggccgtggccaa	20	9	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:101565124G>A	ENST00000388948.3	+	16	2543	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L	LRRK1_ENST00000284395.5_Silent_p.L725L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTGGCGCTGGGGGAGGAGG	0.627																																					p.L728L		.											.	LRRK1-602	0			c.G2184A						.						119	134	129					15																	101565124		2054	4187	6241	SO:0001819	synonymous_variant	79705	exon16			GGCGCTGGGGGAG	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.2184G>A	15.37:g.101565124G>A		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	101	46	NM_024652	0	0	0	0	0		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			.		0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101565124	G	A	101565124	2	1	31	1	0	0	0	0	0	0	0	1	9067	1335	47	3		3	LRRK1	15	101565124	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	568930	101565124	966268	1819	7371											
PCSK6	5046	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	101922386	101922386	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaacgagagcttctgcgtcCaccaaaccaaatccatagaa	6	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:101922386C>G	ENST00000348070.1	-	12	1439	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	PCSK6_ENST00000344273.2_Silent_p.V480V|PCSK6_ENST00000398181.2_Silent_p.V480V|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.V480V|PCSK6_ENST00000331826.7_Silent_p.V315V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	481	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)			CTTCTGCGTCCACCAAACCAA	0.562																																					.		.											.	PCSK6-46	0			.						.						66	69	68					15																	101922386		2083	4232	6315	SO:0001819	synonymous_variant	5046	.			TGCGTCCACCAAA		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.1440G>C	15.37:g.101922386C>G		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	90	29	.	0	0	0	0	0	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37																																																																																				.		0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		G	101922386	C	G	101922386	2	3	31	1	0	0	0	0	0	0	0	1	11643	581	21	3		3	PCSK6	15	101922386	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	357262	101922386	609006	1820	7372											
ARHGDIG	398	broad.mit.edu	37	chr16	332758	332758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccgacgatgacaggAcgcaccacctgtcctgggag	11	14	2	1	rs143125556	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:332758A>G	ENST00000219409.3	+	6	697	c.622A>G	c.(622-624)Acg>Gcg	p.T208A	PDIA2_ENST00000404312.1_5'Flank|PDIA2_ENST00000219406.6_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	208					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		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)				CGATGACAGGACGCACCACCT	0.627											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T208A		.											.	ARHGDIG-90	0			c.A622G						.	A	ALA/THR	2,4394	4.2+/-10.8	0,2,2196	35	33	33		622	1.4	0.1	16	dbSNP_134	33	14,8582	9.1+/-34.3	0,14,4284	yes	missense	ARHGDIG	NM_001176.3	58	0,16,6480	GG,GA,AA		0.1629,0.0455,0.1232	benign	208/226	332758	16,12976	2198	4298	6496	SO:0001583	missense	398	exon6			GACAGGACGCACC	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.622A>G	16.37:g.332758A>G	ENSP00000219409:p.Thr208Ala	Somatic	70	0	587	WXS	Illumina GAIIx	Phase_I	87	3	NM_001176	0	0	0	0	0	Q4TT69|Q96S29	Missense_Mutation	SNP	ENST00000219409.3	37	CCDS10404.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.716344	0.00706	4.55E-4	0.001629	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	3.94	1.39	0.22231	Immunoglobulin E-set (1);	0.870423	0.09585	N	0.782255	T	0.40498	0.1119	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	8	.	.	.	.	4.3407	0.11108	0.6599:0.2059:0.1342:0.0	.	208	Q99819	GDIR3_HUMAN	A	208;100	.	.	T	+	1	0	ARHGDIG	272759	0.186000	0.23225	0.066000	0.19879	0.156000	0.22039	0.845000	0.27668	-0.032000	0.13758	0.460000	0.39030	ACG	A|0.999;G|0.001		0.627	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			G	332758	A	G	332758	3	3	31	1	0	0	0	0	1	0	0	0	892	275	10	4	644	4	ARHGDIG	16	332758	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10		332758	90021995	1821	7373											
PDIA2	64714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	335179	335179	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcacacacagcatgcgcctGgtcacggagttcaacagcca	10	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:335179G>C	ENST00000219406.6	+	5	792	c.774G>C	c.(772-774)ctG>ctC	p.L258L	PDIA2_ENST00000404312.1_Silent_p.L255L|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	258					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)				GCATGCGCCTGGTCACGGAGT	0.657																																					p.L258L		.											.	PDIA2-91	0			c.G774C						.						30	34	33					16																	335179		2106	4214	6320	SO:0001819	synonymous_variant	64714	exon5			GCGCCTGGTCACG	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.774G>C	16.37:g.335179G>C		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	129	23	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1																																																																																			.		0.657	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		C	335179	G	C	335179	2	2	31	1	0	0	0	0	0	0	0	1	11707	1335	47	3		3	PDIA2	16	335179	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2421	335179	90019574	1822	7374											
PDIA2	64714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	335541	335541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgtggcggccgacaaTgagcacgtgctgcagtactt	15	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:335541T>A	ENST00000219406.6	+	7	975	c.957T>A	c.(955-957)aaT>aaA	p.N319K	PDIA2_ENST00000404312.1_Missense_Mutation_p.N316K|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	319					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)				CGGCCGACAATGAGCACGTGC	0.632																																					p.N319K		.											.	PDIA2-91	0			c.T957A						.						61	78	72					16																	335541		2177	4262	6439	SO:0001583	missense	64714	exon7			CGACAATGAGCAC	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.957T>A	16.37:g.335541T>A	ENSP00000219406:p.Asn319Lys	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	172	33	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	t	7.542	0.660953	0.14645	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.32272	1.46;1.46	4.13	-3.96	0.04106	Thioredoxin-like fold (1);	0.547200	0.17722	N	0.164202	T	0.45458	0.1343	M	0.75884	2.315	0.09310	N	1	D	0.63046	0.992	D	0.70487	0.969	T	0.34204	-0.9838	10	0.56958	D	0.05	.	7.9619	0.30076	0.0:0.1889:0.1081:0.703	.	319	Q13087	PDIA2_HUMAN	K	319;288;316	ENSP00000219406:N319K;ENSP00000384410:N316K	ENSP00000219406:N319K	N	+	3	2	PDIA2	275542	0.000000	0.05858	0.012000	0.15200	0.168000	0.22595	-1.075000	0.03423	-0.797000	0.04450	0.398000	0.26397	AAT	.		0.632	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	335541	T	A	335541	3	1	31	1	0	0	0	0	1	0	0	0	11707	1461	51	5	983	5	PDIA2	16	335541	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	362	335541	90019212	1823	7375											
SOLH	6650	broad.mit.edu	37	chr16	602138	602138	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagctcggccagcgcGcccgtgggggtaacagcgct	14	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:602138G>T	ENST00000219611.2	+	10	2796	c.2433G>T	c.(2431-2433)gcG>gcT	p.A811A	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	811					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGGCCAGCGCGCCCGTGGGGG	0.701																																					p.A811A		.											.	SOLH-523	0			c.G2433T						.						10	11	10					16																	602138		1992	3913	5905	SO:0001819	synonymous_variant	6650	exon10			CAGCGCGCCCGTG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2433G>T	16.37:g.602138G>T		Somatic	47	1		WXS	Illumina GAIIx	Phase_I	245	61	NM_005632	0	0	0	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			.		0.701	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		T	602138	G	T	602138	2	4	31	1	0	0	0	0	0	0	0	1	14970	1074	38	2		2	SOLH	16	602138	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	266597	602138	89752615	1824	7376											
C16orf13	84326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	684529	684529	+	3'UTR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacaaggtccggcctaGggaggcagggttcgtgcctc	15	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:684529G>C	ENST00000301686.8	-	0	694				C16orf13_ENST00000338401.4_3'UTR|C16orf13_ENST00000397666.2_Silent_p.P205P|C16orf13_ENST00000397664.4_3'UTR|C16orf13_ENST00000397665.2_Silent_p.P185P	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13											large_intestine(1)	1		Hepatocellular(780;0.00335)				GTCCGGCCTAGGGAGGCAGGG	0.622																																					p.P205P		.											.	C16orf13-22	0			c.C615G						.						88	106	100					16																	684529		2199	4300	6499	SO:0001624	3_prime_UTR_variant	84326	exon5			GGCCTAGGGAGGC		CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.*68C>G	16.37:g.684529G>C		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	127	35	NM_001040160	0	0	0	0	0	A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Silent	SNP	ENST00000301686.8	37	CCDS45368.1																																																																																			.		0.622	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109081.2	NM_001040160		C	684529	G	C	684529	1	2	31	0	1	0	0	0	0	0	0	0	1816	987	35	3		3	C16orf13	16	684529	3'UTR	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	82391	684529	89670224	1825	7377											
TELO2	9894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1551665	1551665	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccttgtttccttaaagcAcgtccctcgttccagccacg	7	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1551665A>G	ENST00000262319.6	+	11	1642	c.1363A>G	c.(1363-1365)Acg>Gcg	p.T455A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	455					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCTTAAAGCACGTCCCTCGT	0.612																																					p.T455A		.											.	TELO2-90	0			c.A1363G						.						55	68	64					16																	1551665		2195	4299	6494	SO:0001630	splice_region_variant	9894	exon11			TAAAGCACGTCCC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1362-1A>G	16.37:g.1551665A>G		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	68	29	NM_016111	0	0	0	0	0	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	A	1.872	-0.460060	0.04508	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.82984	-1.67	5.18	0.83	0.18854	.	1.466390	0.03607	N	0.234254	T	0.63189	0.2490	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55023	-0.8205	10	0.07030	T	0.85	-10.3516	4.3612	0.11203	0.1845:0.5485:0.0:0.267	.	455	Q9Y4R8	TELO2_HUMAN	A	69;455	ENSP00000262319:T455A	ENSP00000262319:T455A	T	+	1	0	TELO2	1491666	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	-1.189000	0.03061	0.244000	0.21351	-0.331000	0.08364	ACG	.		0.612	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111	Missense_Mutation	G	1551665	A	G	1551665	5	3	31	1	0	0	0	0	0	0	1	0	15804	173	6	4	1401	4	TELO2	16	1551665	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	867136	1551665	88803088	1826	7378											
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	1706047	1706048	+	Frame_Shift_Ins	INS	-	-	C													gtgcactggcaggagggcggINSccggtgcaagcagagtgcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1706047_1706048insC	ENST00000397412.3	+	10	1388_1389	c.1289_1290insC	c.(1288-1293)ggccggfs	p.R431fs	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Frame_Shift_Ins_p.R431fs|CRAMP1L_ENST00000436138.3_Frame_Shift_Ins_p.R428fs			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	431						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGGAGGGCGGCCGGTGCAAGC	0.678																																					p.G430fs		.											.	.	0			c.1289_1290insC						.																																			SO:0001589	frameshift_variant	57585	exon9			AGGGCGGCCGGTG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1291dupC	16.37:g.1706049_1706049dupC	ENSP00000380559:p.Arg431fs	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	141	59	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Frame_Shift_Ins	INS	ENST00000397412.3	37	CCDS10440.2																																																																																			.		0.678	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			C	1706048	-	C	1706047	7	5	31	1	0	1	1	0	0	0	0	0	3853	1203	42	0	1323	0	CRAMP1L	16	1706047	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	154382	1706047	88648706	1827	7379	59	2									
CRAMP1L	57585	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr16	1706050	1706050	+	Missense_Mutation	SNP	G	G	T													gcactggcaggagggcggccGgtgcaagcagagtgccaagg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1706050G>T	ENST00000397412.3	+	10	1391	c.1292G>T	c.(1291-1293)cGg>cTg	p.R431L	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R431L|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R428L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	431						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGGGCGGCCGGTGCAAGCAG	0.682																																					p.R431L		.											.	.	0			c.G1292T						.						14	17	16					16																	1706050		2023	4164	6187	SO:0001583	missense	57585	exon9			GCGGCCGGTGCAA	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1292G>T	16.37:g.1706050G>T	ENSP00000380559:p.Arg431Leu	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	146	66	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247978	0.39697	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	4.98	3.96	0.45880	.	0.065202	0.64402	D	0.000018	T	0.32496	0.0831	N	0.24115	0.695	0.80722	D	1	P	0.51537	0.946	B	0.44108	0.441	T	0.05084	-1.0907	9	0.48119	T	0.1	-34.8293	7.087	0.25264	0.2286:0.0:0.7714:0.0	.	431	Q96RY5	CRML_HUMAN	L	431;431;428	.	ENSP00000293925:R431L	R	+	2	0	CRAMP1L	1646051	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	3.109000	0.50345	2.576000	0.86940	0.655000	0.94253	CGG	.		0.682	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			T	1706050	G	T	1706050	3	4	31	1	0	0	0	0	1	0	0	0	3853	1116	39	2	1326	2	CRAMP1L	16	1706050	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3	1706050	88648703	1828	7380	59	2									
ZNF598	90850	hgsc.bcm.edu	37	chr16	2049527	2049527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatccggggtgggcaggGgccgccgagcgctgggaagt	21	11	0	0	rs370015106	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2049527G>A	ENST00000563630.1	-	9	2100	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.P675S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P620S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	675	Pro-rich.						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						GGTGGGCAGGGGCCGCCGAGC	0.756													G|||	14	0.00279553	8e-04	0.0043	5008	,	,		12767	0		0.0099	False		,,,				2504	0				p.P675S		.											.	ZNF598-432	0			c.C2023T						.	G	SER/PRO	3,3225		0,3,1611	7	8	8		2025	2.6	0.3	16		8	53,7167		0,53,3557	no	missense	ZNF598	NM_178167.2	74	0,56,5168	AA,AG,GG		0.7341,0.0929,0.536	probably-damaging	675/905	2049527	56,10392	1614	3610	5224	SO:0001583	missense	90850	exon11			GGCAGGGGCCGCC	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.1858C>T	16.37:g.2049527G>A	ENSP00000455882:p.Pro620Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	21	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	2.287	-0.363284	0.05103	9.29E-4	0.007341	ENSG00000167962	ENST00000431526	T	0.15834	2.39	4.7	2.63	0.31362	.	0.397754	0.28665	N	0.014551	T	0.06234	0.0161	L	0.41079	1.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.007	T	0.31475	-0.9942	10	0.07644	T	0.81	-17.0899	1.2597	0.01999	0.2064:0.1832:0.4441:0.1662	.	675;667	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	S	675	ENSP00000411409:P675S	ENSP00000411409:P675S	P	-	1	0	ZNF598	1989528	0.915000	0.31059	0.316000	0.25252	0.245000	0.25701	0.819000	0.27308	1.204000	0.43247	0.650000	0.86243	CCC	.		0.756	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		A	2049527	G	A	2049527	3	1	31	1	0	0	0	0	1	0	0	0	18076	1232	43	3	707	3	ZNF598	16	2049527	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	343477	2049527	88305226	1829	7381											
SLC9A3R2	9351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2079600	2079600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtgcaaaggatcaaGgctgtggaggggcagactcg	18	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2079600G>T	ENST00000424542.2	+	2	369	c.231G>T	c.(229-231)aaG>aaT	p.K77N	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.K77N|SLC9A3R2_ENST00000563587.1_5'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	77	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						AAAGGATCAAGGCTGTGGAGG	0.667																																					p.K77N	Ovarian(69;105 1552 17724 23473)	.											.	SLC9A3R2-23	0			c.G231T						.						29	39	36					16																	2079600		2103	4209	6312	SO:0001583	missense	9351	exon2			GATCAAGGCTGTG	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.231G>T	16.37:g.2079600G>T	ENSP00000408005:p.Lys77Asn	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	151	25	NM_004785	0	0	0	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974274	0.53720	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.34472	1.36;1.36	4.61	3.64	0.41730	PDZ/DHR/GLGF (4);	0.400718	0.26923	N	0.021815	T	0.38878	0.1057	M	0.68593	2.085	0.80722	D	1	B;P	0.40619	0.425;0.724	B;B	0.42882	0.367;0.401	T	0.39187	-0.9626	10	0.66056	D	0.02	-14.5243	9.2011	0.37258	0.1756:0.0:0.8244:0.0	.	77;77	D3DU85;Q15599	.;NHRF2_HUMAN	N	77	ENSP00000408005:K77N;ENSP00000402857:K77N	ENSP00000408005:K77N	K	+	3	2	SLC9A3R2	2019601	0.993000	0.37304	1.000000	0.80357	0.955000	0.61496	0.183000	0.16919	2.128000	0.65567	0.555000	0.69702	AAG	.		0.667	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			T	2079600	G	T	2079600	3	4	31	1	0	0	0	0	1	0	0	0	14760	991	35	3	237	3	SLC9A3R2	16	2079600	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	30073	2079600	88275153	1830	7382											
E4F1	1877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2284352	2284352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactcagacgagcggccctAcccttgtcccaagtgtggca	10	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2284352A>G	ENST00000301727.4	+	10	1604	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Missense_Mutation_p.Y519C|RP11-304L19.12_ENST00000564055.1_lincRNA	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	519	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GAGCGGCCCTACCCTTGTCCC	0.672																																					p.Y519C		.											.	E4F1-187	0			c.A1556G						.						57	58	58					16																	2284352		2197	4300	6497	SO:0001583	missense	1877	exon10			GGCCCTACCCTTG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1556A>G	16.37:g.2284352A>G	ENSP00000301727:p.Tyr519Cys	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	355	156	NM_004424	0	0	0	0	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970191	0.34754	.	.	ENSG00000167967	ENST00000301727	T	0.25414	1.8	5.11	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.113928	0.64402	D	0.000008	T	0.48314	0.1493	M	0.87682	2.9	0.51767	D	0.999934	D	0.60575	0.988	P	0.59171	0.853	T	0.51957	-0.8639	10	0.72032	D	0.01	-22.4615	9.1685	0.37065	0.8024:0.0:0.0:0.1976	.	519	Q66K89	E4F1_HUMAN	C	519	ENSP00000301727:Y519C	ENSP00000301727:Y519C	Y	+	2	0	E4F1	2224353	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.896000	0.63222	0.784000	0.33661	0.448000	0.29417	TAC	.		0.672	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		G	2284352	A	G	2284352	3	3	31	1	0	0	0	0	1	0	0	0	4888	391	14	4	1594	4	E4F1	16	2284352	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	204752	2284352	88070401	1831	7383											
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2816143	2816143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgagcctctccagccActcaccggcgatccaggtcc	9	18	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2816143A>T	ENST00000301740.8	+	11	6163	c.5614A>T	c.(5614-5616)Act>Tct	p.T1872S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1872	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTCCAGCCACTCACCGGCG	0.612																																					p.T1872S		.											.	SRRM2-93	0			c.A5614T						.						80	77	78					16																	2816143		2198	4300	6498	SO:0001583	missense	23524	exon11			CCAGCCACTCACC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5614A>T	16.37:g.2816143A>T	ENSP00000301740:p.Thr1872Ser	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	161	73	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	2.259	-0.369731	0.05069	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.23754	1.89	5.34	3.1	0.35709	.	0.192706	0.36932	N	0.002330	T	0.12433	0.0302	N	0.08118	0	0.25514	N	0.987433	B	0.16603	0.018	B	0.13407	0.009	T	0.18903	-1.0322	10	0.54805	T	0.06	-5.3118	7.9357	0.29929	0.8292:0.0:0.1708:0.0	.	1872	Q9UQ35	SRRM2_HUMAN	S	1872;1872;1124	ENSP00000301740:T1872S	ENSP00000301740:T1872S	T	+	1	0	SRRM2	2756144	0.004000	0.15560	0.988000	0.46212	0.998000	0.95712	-0.029000	0.12329	0.351000	0.24027	0.528000	0.53228	ACT	.		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2816143	A	T	2816143	3	4	31	1	0	0	0	0	1	0	0	0	15216	159	6	5	5652	5	SRRM2	16	2816143	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	531791	2816143	87538610	1832	7384											
SRRM2	23524	hgsc.bcm.edu	37	chr16	2817254	2817256	+	In_Frame_Del	DEL	TAG	TAG	-													ctctgcggcagccatgaaccTagccagcgccaggacacctg					rs139489601		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TAG	TAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2817254_2817256delTAG	ENST00000301740.8	+	11	7274_7276	c.6725_6727delTAG	c.(6724-6729)ctagcc>ccc	p.2242_2243LA>P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2242	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCATGAACCTAGCCAGCGCCAG	0.626																																					p.2242_2243del		.											.	SRRM2-93	0			c.6725_6727del						.																																			SO:0001651	inframe_deletion	23524	exon11			TGAACCTAGCCAG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6725_6727delTAG	16.37:g.2817254_2817256delTAG	ENSP00000301740:p.Leu2242_Ala2243delinsPro	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	106	0	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	CCDS32373.1																																																																																			.		0.626	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			-	2817256	TAG	-	2817254	7	5	31	1	0	1	0	1	0	0	0	0	15216	1522	53	0	6763	0	SRRM2	16	2817254	In_Frame_Del	DEL	TAG	TCGA-OR-A5KB-01A-11D-A30A-10	1111	2817254	87537499	1833	7385	60	2									
SRRM2	23524	bcgsc.ca	37	chr16	2817256	2817256	+	Missense_Mutation	SNP	G	G	A													ctgcggcagccatgaacctaGccagcgccaggacacctgcc					rs139489601		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2817256G>A	ENST00000301740.8	+	11	7276	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2243	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATGAACCTAGCCAGCGCCAG	0.627																																					p.A2243T		.											.	SRRM2-93	0			c.G6727A						.						46	52	50					16																	2817256		2194	4295	6489	SO:0001583	missense	23524	exon11			AACCTAGCCAGCG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6727G>A	16.37:g.2817256G>A	ENSP00000301740:p.Ala2243Thr	Somatic	116	2		WXS	Illumina GAIIx	Phase_I	108	21	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740033	0.49045	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78003	-1.14	5.73	5.73	0.89815	.	0.089424	0.49305	D	0.000156	T	0.81744	0.4887	L	0.34521	1.04	0.33246	D	0.557905	D	0.63880	0.993	D	0.70935	0.971	D	0.84168	0.0432	10	0.39692	T	0.17	-14.1309	15.3821	0.74664	0.0:0.0:1.0:0.0	.	2243	Q9UQ35	SRRM2_HUMAN	T	2243;1495	ENSP00000301740:A2243T	ENSP00000301740:A2243T	A	+	1	0	SRRM2	2757257	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.707000	0.54838	2.714000	0.92807	0.591000	0.81541	GCC	G|1.000;C|0.000		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2817256	G	A	2817256	3	1	31	1	0	0	0	0	1	0	0	0	15216	971	34	3	6765	3	SRRM2	16	2817256	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2	2817256	87537497	1834	7386	60	2									
MEFV	4210	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3296527	3296527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggacctcgctgtacctGtgcaagatgtctccaatgtc	9	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:3296527G>A	ENST00000219596.1	-	6	1647	c.1608C>T	c.(1606-1608)caC>caT	p.H536H	MEFV_ENST00000339854.4_Silent_p.H356H|MEFV_ENST00000536379.1_Silent_p.H325H|MEFV_ENST00000541159.1_Silent_p.H325H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	536	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CGCTGTACCTGTGCAAGATGT	0.562																																					p.H536H		.											.	MEFV-228	0			c.C1608T						.						84	80	81					16																	3296527		2197	4300	6497	SO:0001819	synonymous_variant	4210	exon6			GTACCTGTGCAAG	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1608C>T	16.37:g.3296527G>A		Somatic	61	1		WXS	Illumina GAIIx	Phase_I	70	21	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			.		0.562	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		A	3296527	G	A	3296527	2	1	31	1	0	0	0	0	0	0	0	1	9497	1368	48	3		3	MEFV	16	3296527	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	479271	3296527	87058226	1835	7387											
C16orf90	646174	hgsc.bcm.edu;mdanderson.org	37	chr16	3544850	3544850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgcgtcagggtggccgGggcgtccttgggcctggctc	21	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:3544850G>T	ENST00000437192.3	-	2	76	c.74C>A	c.(73-75)cCc>cAc	p.P25H	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	15										large_intestine(1)	1						AGGGTGGCCGGGGCGTCCTTG	0.692																																					p.P25H		.											.	.	0			c.C74A						.						12	15	14					16																	3544850		1969	4101	6070	SO:0001583	missense	646174	exon2			TGGCCGGGGCGTC		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.74C>A	16.37:g.3544850G>T	ENSP00000401335:p.Pro25His	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	50	22	NM_001080524	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437192.3	37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187693	0.38609	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.7	4.71	0.59529	.	0.590445	0.12535	U	0.460413	T	0.47820	0.1466	L	0.32530	0.975	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	T	0.33033	-0.9884	9	0.72032	D	0.01	-3.2638	9.2956	0.37813	0.1064:0.0:0.8936:0.0	.	25	A8MZG2-2	.	H	25	.	ENSP00000401335:P25H	P	-	2	0	C16orf90	3484851	0.867000	0.29959	0.769000	0.31535	0.028000	0.11728	2.208000	0.42797	1.329000	0.45376	0.591000	0.81541	CCC	.		0.692	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		T	3544850	G	T	3544850	3	4	31	1	0	0	0	0	1	0	0	0	1848	1232	43	3	482	3	C16orf90	16	3544850	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	248323	3544850	86809903	1836	7388											
ADCY9	115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4164589	4164589	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcagccgtggagcagCcccctgctcagcagctccca	12	16	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:4164589C>A	ENST00000294016.3	-	2	1393	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	285					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTGGAGCAGCCCCCTGCTCA	0.627																																					p.G285G		.											.	ADCY9-139	0			c.G855T						.						38	37	38					16																	4164589		2197	4300	6497	SO:0001819	synonymous_variant	115	exon2			GAGCAGCCCCCTG	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.855G>T	16.37:g.4164589C>A		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	87	36	NM_001116	0	0	0	0	0	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			.		0.627	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4164589	C	A	4164589	2	1	31	1	0	0	0	0	0	0	0	1	301	726	26	3		3	ADCY9	16	4164589	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	619739	4164589	86190164	1837	7389											
TEKT5	146279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	10769881	10769882	+	Missense_Mutation	DNP	CC	CC	AA													agagatgcgggcgttgaaggCcaggttggtgtctgtgaact							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:10769881_10769882CC>AA	ENST00000283025.2	-	5	1091_1092	c.1020_1021GG>TT	c.(1018-1023)ctGGcc>ctTTcc	p.A341S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	341						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCGTTGAAGGCCAGGTTGGTGT	0.589																																					p.A341S		.											.	TEKT5-92	0			c.G1020T						.																																			SO:0001583	missense	146279	exon5			GAAGGCCAGGTTG		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1020_1021delinsAA	16.37:g.10769881_10769882delinsAA	ENSP00000283025:p.Ala341Ser	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	134	4	NM_144674	0	0	0	0	0	A1L3Z3	Missense_Mutation	DNP	ENST00000283025.2	37	CCDS10542.1																																																																																			.		0.589	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		AA	10769882	CC	AA	10769881	3	1	31	1	0	0	0	0	1	0	0	0	15803	739	26	3	448	3	TEKT5	16	10769881	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	6605292	10769881	79584872	1838	7390											
CIITA	4261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	11000690	11000690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcttccccagtacgacttTgtcttctctgtcccctgcca	7	17	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:11000690T>G	ENST00000324288.8	+	11	1474	c.1341T>G	c.(1339-1341)ttT>ttG	p.F447L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	447	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTACGACTTTGTCTTCTCTG	0.637			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.F447L		.		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	CIITA-226	0			c.T1341G						.						56	56	56					16																	11000690		2194	4297	6491	SO:0001583	missense	4261	exon11			CGACTTTGTCTTC	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.1341T>G	16.37:g.11000690T>G	ENSP00000316328:p.Phe447Leu	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	83	19	NM_000246	0	0	0	0	0	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211044	0.39102	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.76316	-1.01	5.03	-7.55	0.01327	NACHT nucleoside triphosphatase (1);	0.000000	0.53938	D	0.000045	T	0.80171	0.4574	L	0.55017	1.72	0.80722	D	1	D;P;D;D	0.76494	0.972;0.592;0.965;0.999	P;B;P;D	0.80764	0.887;0.32;0.885;0.994	D	0.83400	0.0022	10	0.72032	D	0.01	.	12.2866	0.54795	0.1072:0.6182:0.0:0.2746	.	447;447;399;447	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	L	447;399	ENSP00000316328:F447L	ENSP00000316328:F447L	F	+	3	2	CIITA	10908191	0.010000	0.17322	0.754000	0.31244	0.108000	0.19459	-1.498000	0.02287	-1.804000	0.01241	-0.411000	0.06167	TTT	.		0.637	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		G	11000690	T	G	11000690	3	3	31	1	0	0	0	0	1	0	0	0	3435	1809	63	5	1383	5	CIITA	16	11000690	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	230809	11000690	79354063	1839	7391											
KIAA0430	9665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	15732947	15732947	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagtcttgcatatagttacCgtttggggactatgtggcag	12	6	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:15732947C>G	ENST00000396368.3	-	2	350	c.144G>C	c.(142-144)acG>acC	p.T48T	KIAA0430_ENST00000602337.1_Splice_Site_p.T48T|KIAA0430_ENST00000548025.1_Splice_Site_p.T48T|KIAA0430_ENST00000551742.1_Splice_Site_p.T48T|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_Splice_Site_p.T48T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	48					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)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATATAGTTACCGTTTGGGGAC	0.448																																					p.T48T		.											.	KIAA0430-90	0			c.G144C						.						90	85	87					16																	15732947		1945	4142	6087	SO:0001630	splice_region_variant	9665	exon2			AGTTACCGTTTGG	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.144+1G>C	16.37:g.15732947C>G		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	86	36	NM_014647	0	0	0	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																			.		0.448	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	Silent	G	15732947	C	G	15732947	5	3	31	1	0	0	0	0	0	0	1	0	8204	666	23	2	5191	2	KIAA0430	16	15732947	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4732257	15732947	74621806	1840	7392											
XYLT1	64131	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	17228440	17228440	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcaggctgtggatgccGtcaggctcatcgtagacatt	12	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:17228440G>C	ENST00000261381.6	-	9	2001	c.1917C>G	c.(1915-1917)gaC>gaG	p.D639E	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	639					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						TGTGGATGCCGTCAGGCTCAT	0.602																																					p.D639E		.											.	XYLT1-94	0			c.C1917G						.						116	101	106					16																	17228440		2197	4300	6497	SO:0001583	missense	64131	exon9			GATGCCGTCAGGC	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.1917C>G	16.37:g.17228440G>C	ENSP00000261381:p.Asp639Glu	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	96	18	NM_022166	0	0	0	0	0	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220255	0.39201	.	.	ENSG00000103489	ENST00000261381	T	0.64618	-0.11	5.18	-10.4	0.00318	.	0.105476	0.64402	D	0.000002	T	0.53899	0.1825	L	0.61036	1.89	0.44439	D	0.997368	B	0.29955	0.263	B	0.34931	0.192	T	0.62291	-0.6885	10	0.48119	T	0.1	-13.6338	15.8911	0.79299	0.341:0.0786:0.5804:0.0	.	639	Q86Y38	XYLT1_HUMAN	E	639	ENSP00000261381:D639E	ENSP00000261381:D639E	D	-	3	2	XYLT1	17135941	0.000000	0.05858	0.003000	0.11579	0.267000	0.26476	-1.966000	0.01509	-3.278000	0.00198	-2.025000	0.00428	GAC	.		0.602	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		C	17228440	G	C	17228440	3	2	31	1	0	0	0	0	1	0	0	0	17512	1136	40	2	978	2	XYLT1	16	17228440	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1495493	17228440	73126313	1841	7393											
C16orf62	57020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	19628040	19628040	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtccagaaccagctggtGgtccaaggagtggagctccc	14	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:19628040G>T	ENST00000251143.5	+	14	1146	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	C16orf62_ENST00000448695.1_Silent_p.V228V|C16orf62_ENST00000543152.1_Silent_p.V127V|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000438132.3_Silent_p.V467V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	378						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACCAGCTGGTGGTCCAAGGAG	0.512																																					p.V467V		.											.	C16orf62-69	0			c.G1401T						.						142	116	125					16																	19628040		2197	4300	6497	SO:0001819	synonymous_variant	57020	exon14			GCTGGTGGTCCAA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1134G>T	16.37:g.19628040G>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	162	45	NM_020314	0	0	0	0	0	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																				.		0.512	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		T	19628040	G	T	19628040	2	4	31	1	0	0	0	0	0	0	0	1	1830	1335	47	3		3	C16orf62	16	19628040	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2399600	19628040	70726713	1842	7394											
GP2	2813	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20327304	20327304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgatgggccccaaatctAgaacccgggctaggtcgatg	14	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20327304A>C	ENST00000381362.4	-	10	1560	c.1484T>G	c.(1483-1485)cTa>cGa	p.L495R	GP2_ENST00000341642.5_Missense_Mutation_p.L345R|GP2_ENST00000302555.5_Missense_Mutation_p.L492R|GP2_ENST00000381360.5_Missense_Mutation_p.L348R|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	495					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCCAAATCTAGAACCCGGGC	0.493																																					p.L495R		.											.	GP2-94	0			c.T1484G						.						109	100	103					16																	20327304		2203	4300	6503	SO:0001583	missense	2813	exon10			AAATCTAGAACCC	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1484T>G	16.37:g.20327304A>C	ENSP00000370767:p.Leu495Arg	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	116	57	NM_001007240	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732102	0.48939	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.92446	-3.04;-3.04;-1.79;-1.8	5.37	3.1	0.35709	.	.	.	.	.	D	0.94248	0.8153	M	0.72118	2.19	0.28753	N	0.901346	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.995;0.999;0.996	D	0.87191	0.2234	9	0.87932	D	0	0.0234	4.5031	0.11874	0.7369:0.0:0.0921:0.171	.	345;473;492;495	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	R	492;495;348;345;473	ENSP00000304044:L492R;ENSP00000370767:L495R;ENSP00000370765:L348R;ENSP00000343861:L345R	ENSP00000304044:L492R	L	-	2	0	GP2	20234805	0.721000	0.28007	0.150000	0.22450	0.576000	0.36127	1.876000	0.39588	0.332000	0.23536	0.533000	0.62120	CTA	.		0.493	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		C	20327304	A	C	20327304	3	2	31	1	0	0	0	0	1	0	0	0	6608	420	15	5	141	5	GP2	16	20327304	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	699264	20327304	70027449	1843	7395											
GP2	2813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20331586	20331586	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgtgaaagccacttacctCcagaatgttcctgcaggcac	10	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20331586C>A	ENST00000381362.4	-	6	941	c.865G>T	c.(865-867)Gag>Tag	p.E289*	GP2_ENST00000341642.5_Nonsense_Mutation_p.E139*|GP2_ENST00000302555.5_Nonsense_Mutation_p.E286*|GP2_ENST00000381360.5_Nonsense_Mutation_p.E142*|GP2_ENST00000573897.1_5'UTR	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	289	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCACTTACCTCCAGAATGTTC	0.542																																					p.E289X		.											.	GP2-94	0			c.G865T						.						96	83	87					16																	20331586		2203	4300	6503	SO:0001587	stop_gained	2813	exon6			TTACCTCCAGAAT	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.865G>T	16.37:g.20331586C>A	ENSP00000370767:p.Glu289*	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	93	27	NM_001007240	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Nonsense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519251	0.85495	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	4.64	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-18.091	7.7491	0.28886	0.0:0.8904:0.0:0.1096	.	.	.	.	X	286;289;142;139;267	.	ENSP00000304044:E286X	E	-	1	0	GP2	20239087	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.210000	0.32370	2.523000	0.85059	0.655000	0.94253	GAG	.		0.542	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		A	20331586	C	A	20331586	4	1	31	1	0	0	0	0	0	1	0	0	6608	864	30	3	776	3	GP2	16	20331586	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4282	20331586	70023167	1844	7396											
GP2	2813	bcgsc.ca	37	chr16	20335325	20335325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcagccacatgggagcGtctgtctggcatcggtgcac	12	13	3	0	rs12930599	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20335325G>A	ENST00000381362.4	-	3	424	c.348C>T	c.(346-348)gaC>gaT	p.D116D	GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Silent_p.D116D|GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	116					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACATGGGAGCGTCTGTCTGGC	0.572													G|||	414	0.0826677	0.0068	0.1772	5008	,	,		18878	0.0089		0.2256	False		,,,				2504	0.047				p.D116D		.											.	GP2-94	0			c.C348T						.	G	,,,	205,4201	124.5+/-161.8	3,199,2001	98	77	84		348,,,348	-10	0	16	dbSNP_121	84	1890,6710	335.5+/-321.5	201,1488,2611	no	coding-synonymous,intron,intron,coding-synonymous	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	,,,	204,1687,4612	AA,AG,GG		21.9767,4.6527,16.108	,,,	116/538,,,116/535	20335325	2095,10911	2203	4300	6503	SO:0001819	synonymous_variant	2813	exon3			GGGAGCGTCTGTC	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.348C>T	16.37:g.20335325G>A		Somatic	215	1		WXS	Illumina GAIIx	Phase_I	192	7	NM_001502	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																			G|0.865;A|0.135		0.572	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		A	20335325	G	A	20335325	2	1	31	1	0	0	0	0	0	0	0	1	6608	1136	40	1		1	GP2	16	20335325	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3739	20335325	70019428	1845	7397											
ACSM2A	123876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20476935	20476935	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgagtgaaaacagccagCaggcagccaacgtcctctcg	10	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20476935C>T	ENST00000573854.1	+	3	388	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.Q13*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.Q92*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	92					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACAGCCAGCAGGCAGCCAA	0.607																																					p.Q92X		.											.	ACSM2A-91	0			c.C274T						.						119	107	111					16																	20476935		2203	4300	6503	SO:0001587	stop_gained	123876	exon4			AGCCAGCAGGCAG	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.274C>T	16.37:g.20476935C>T	ENSP00000459451:p.Gln92*	Somatic	400	0		WXS	Illumina GAIIx	Phase_I	443	57	NM_001010845	0	0	0	0	0	B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105404	0.56291	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	.	.	.	3.76	2.69	0.31865	.	0.171201	0.28001	N	0.016994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4044	8.844	0.35159	0.4338:0.5662:0.0:0.0	.	.	.	.	X	13;92;92;92	.	ENSP00000219054:Q92X	Q	+	1	0	ACSM2A	20384436	0.234000	0.23783	0.010000	0.14722	0.327000	0.28475	3.504000	0.53347	1.809000	0.52856	0.298000	0.19748	CAG	.		0.607	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20476935	C	T	20476935	4	4	31	1	0	0	0	0	0	1	0	0	183	711	25	3	280	3	ACSM2A	16	20476935	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	141610	20476935	69877818	1846	7398											
HS3ST2	9956	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	22825984	22825984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagccgcggagggcgcGcaggctgctcttcgccttca	13	16	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:22825984G>A	ENST00000261374.3	+	1	487	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	18					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CGGAGGGCGCGCAGGCTGCTC	0.706																																					p.R18H		.											.	HS3ST2-516	0			c.G53A						.						9	10	10					16																	22825984		2125	4197	6322	SO:0001583	missense	9956	exon1			GGGCGCGCAGGCT	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.53G>A	16.37:g.22825984G>A	ENSP00000261374:p.Arg18His	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	85	51	NM_006043	0	0	0	0	0	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944801	0.73672	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.52983	0.64	4.04	3.07	0.35406	.	0.454124	0.21061	N	0.080840	T	0.33059	0.0850	L	0.43923	1.385	0.49130	D	0.999751	D	0.54397	0.966	B	0.34093	0.175	T	0.20405	-1.0276	10	0.59425	D	0.04	.	10.8434	0.46728	0.0962:0.0:0.9038:0.0	.	18	Q9Y278	HS3S2_HUMAN	H	18;26	ENSP00000261374:R18H	ENSP00000261374:R18H	R	+	2	0	HS3ST2	22733485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.235000	0.43044	0.791000	0.33826	0.462000	0.41574	CGC	.		0.706	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22825984	G	A	22825984	3	1	31	1	0	0	0	0	1	0	0	0	7391	1087	38	1	55	1	HS3ST2	16	22825984	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2349049	22825984	67528769	1847	7399											
HS3ST2	9956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	22926624	22926624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgactcatcactgacccggCcggcgagatggggcgagtcc	15	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:22926624C>A	ENST00000261374.3	+	2	1279	c.845C>A	c.(844-846)gCc>gAc	p.A282D		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	282					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		ACTGACCCGGCCGGCGAGATG	0.547																																					p.A282D		.											.	HS3ST2-516	0			c.C845A						.						98	101	100					16																	22926624		2197	4300	6497	SO:0001583	missense	9956	exon2			ACCCGGCCGGCGA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.845C>A	16.37:g.22926624C>A	ENSP00000261374:p.Ala282Asp	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	138	68	NM_006043	0	0	0	0	0	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344686	0.82022	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.82893	-1.66	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.92451	0.5970	10	0.72032	D	0.01	.	17.7799	0.88520	0.0:1.0:0.0:0.0	.	282	Q9Y278	HS3S2_HUMAN	D	282;290	ENSP00000261374:A282D	ENSP00000261374:A282D	A	+	2	0	HS3ST2	22834125	1.000000	0.71417	0.094000	0.20943	0.683000	0.39861	7.818000	0.86416	2.433000	0.82419	0.561000	0.74099	GCC	.		0.547	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22926624	C	A	22926624	3	1	31	1	0	0	0	0	1	0	0	0	7391	739	26	3	851	3	HS3ST2	16	22926624	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	100640	22926624	67428129	1848	7400											
ERN2	10595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23716290	23716290	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgtggccccagcggagggcGaggaaatgcagagtgtctcg	17	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:23716290G>C	ENST00000457008.2	-	8	806	c.768C>G	c.(766-768)ctC>ctG	p.L256L	ERN2_ENST00000256797.4_Silent_p.L304L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCGGAGGGCGAGGAAATGCA	0.662																																					p.L304L		.											.	ERN2-322	0			c.C912G						.						58	58	58					16																	23716290		2197	4300	6497	SO:0001819	synonymous_variant	10595	exon8			GAGGGCGAGGAAA	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.768C>G	16.37:g.23716290G>C		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	212	91	NM_033266	0	0	0	0	0		Silent	SNP	ENST00000457008.2	37																																																																																				.		0.662	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			C	23716290	G	C	23716290	2	2	31	1	0	0	0	0	0	0	0	1	5254	1045	37	2		2	ERN2	16	23716290	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	789666	23716290	66638463	1849	7401											
CACNG3	10368	broad.mit.edu;bcgsc.ca	37	chr16	24373179	24373179	+	Frame_Shift_Del	DEL	G	G	-													ccaacaggcgcaccacgcccGtctgaactgacctctgacct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24373179delG	ENST00000005284.3	+	4	2145	c.943delG	c.(943-945)gtcfs	p.V315fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552																																					p.V315fs		.											.	CACNG3-90	2	Substitution - Missense(2)	NS(1)|endometrium(1)	c.943delG						.						37	39	38					16																	24373179		2197	4300	6497	SO:0001589	frameshift_variant	10368	exon4			ACGCCCGTCTGAA	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.943delG	16.37:g.24373179delG	ENSP00000005284:p.Val315fs	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	28	9	NM_006539	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000005284.3	37	CCDS10620.1																																																																																			.		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		-	24373179	G	-	24373179	7	5	31	1	0	1	0	1	0	0	0	0	2565	1145	40	0	957	0	CACNG3	16	24373179	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	656889	24373179	65981574	1850	7402											
RBBP6	5930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24582830	24582830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgactatgacaccagagaGtattcaagttccaaacgtag	8	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24582830G>T	ENST00000319715.4	+	18	4875	c.4443G>T	c.(4441-4443)gaG>gaT	p.E1481D	RBBP6_ENST00000381039.3_Missense_Mutation_p.E641D|RBBP6_ENST00000348022.2_Missense_Mutation_p.E1447D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1481	Interaction with p53. {ECO:0000250}.				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)		ACACCAGAGAGTATTCAAGTT	0.373																																					p.E1481D		.											.	RBBP6-230	0			c.G4443T						.						72	71	71					16																	24582830		2197	4300	6497	SO:0001583	missense	5930	exon18			CAGAGAGTATTCA		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.4443G>T	16.37:g.24582830G>T	ENSP00000317872:p.Glu1481Asp	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	78	19	NM_006910	0	0	0	0	0	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092994	0.01858	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.15834	2.39;2.55;2.6	6.04	-4.4	0.03600	.	0.386292	0.25375	N	0.031127	T	0.03871	0.0109	N	0.03608	-0.345	0.21740	N	0.999566	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28808	-1.0032	10	0.16420	T	0.52	-2.0105	0.5335	0.00633	0.2141:0.1951:0.2239:0.3669	.	641;1447;1481	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	D	641;1481;1447	ENSP00000370427:E641D;ENSP00000317872:E1481D;ENSP00000316291:E1447D	ENSP00000317872:E1481D	E	+	3	2	RBBP6	24490331	0.016000	0.18221	0.651000	0.29564	0.990000	0.78478	-1.109000	0.03309	-0.804000	0.04410	0.563000	0.77884	GAG	.		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24582830	G	T	24582830	3	4	31	1	0	0	0	0	1	0	0	0	13148	1020	36	3	4567	3	RBBP6	16	24582830	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	209651	24582830	65771923	1851	7403											
SLC5A11	115584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24909414	24909414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccctgggatggtcagCcgcatcctcttcccaggtga	12	13	2	1	rs372688531		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24909414C>G	ENST00000347898.3	+	10	1612	c.990C>G	c.(988-990)agC>agG	p.S330R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.S260R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.S260R|SLC5A11_ENST00000565769.1_Missense_Mutation_p.S266R|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P198A|SLC5A11_ENST00000424767.2_Missense_Mutation_p.S295R|SLC5A11_ENST00000539472.1_Missense_Mutation_p.S266R|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P198A|SLC5A11_ENST00000567758.1_Missense_Mutation_p.S295R	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGATGGTCAGCCGCATCCTCT	0.507																																					p.S330R		.											.	SLC5A11-92	0			c.C990G						.						126	100	108					16																	24909414		2197	4300	6497	SO:0001583	missense	115584	exon10			GGTCAGCCGCATC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.990C>G	16.37:g.24909414C>G	ENSP00000289932:p.Ser330Arg	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	68	16	NM_052944	0	0	0	0	0		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.54|17.54	3.414421|3.414421	0.62511|0.62511	.|.	.|.	ENSG00000158865|ENSG00000158865	ENST00000449109|ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D|D;D;D;D	0.93547|0.89123	-3.24|-2.47;-2.47;-2.47;-2.47	5.53|5.53	2.46|2.46	0.29980|0.29980	.|.	.|0.036079	.|0.85682	.|D	.|0.000000	D|D	0.95313|0.95313	0.8479|0.8479	H|H	0.96111|0.96111	3.77|3.77	0.58432|0.58432	D|D	0.999999|0.999999	B|D;D;P	0.28055|0.76494	0.199|0.999;0.999;0.931	B|D;D;P	0.27380|0.75020	0.079|0.985;0.954;0.715	D|D	0.93833|0.93833	0.7129|0.7129	9|10	0.22109|0.87932	T|D	0.4|0	.|.	8.7151|8.7151	0.34405|0.34405	0.0:0.7401:0.0:0.2599|0.0:0.7401:0.0:0.2599	.|.	198|260;295;330	Q05BF1|B7Z329;Q8WWX8-2;Q8WWX8	.|.;.;SC5AB_HUMAN	A|R	198|330;295;260;266	ENSP00000389606:P198A|ENSP00000289932:S330R;ENSP00000416782:S295R;ENSP00000441384:S260R;ENSP00000441018:S266R	ENSP00000389606:P198A|ENSP00000289932:S330R	P|S	+|+	1|3	0|2	SLC5A11|SLC5A11	24816915|24816915	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.698000|0.698000	0.40448|0.40448	2.124000|2.124000	0.42006|0.42006	0.275000|0.275000	0.22094|0.22094	0.655000|0.655000	0.94253|0.94253	CCG|AGC	.		0.507	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		G	24909414	C	G	24909414	3	3	31	1	0	0	0	0	1	0	0	0	14708	738	26	3	1024	3	SLC5A11	16	24909414	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	326584	24909414	65445339	1852	7404											
KIAA0556	23247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	27709688	27709688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacccctgtctgcaacccGcaaaactctttgcgaggctg	10	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:27709688G>T	ENST00000261588.4	+	9	999	c.980G>T	c.(979-981)cGc>cTc	p.R327L	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	327						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTGCAACCCGCAAAACTCTT	0.582																																					p.R327L		.											.	KIAA0556-141	0			c.G980T						.						84	94	91					16																	27709688		2197	4300	6497	SO:0001583	missense	23247	exon9			CAACCCGCAAAAC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.980G>T	16.37:g.27709688G>T	ENSP00000261588:p.Arg327Leu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	79	16	NM_015202	0	0	0	0	0	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079113	0.76528	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.19669	2.13	5.56	4.61	0.57282	.	0.127681	0.48767	D	0.000166	T	0.44074	0.1276	M	0.76328	2.33	0.38760	D	0.9543	D;D	0.89917	0.991;1.0	P;D	0.73380	0.884;0.98	T	0.50725	-0.8794	10	0.72032	D	0.01	-3.5269	10.9813	0.47497	0.0868:0.0:0.9132:0.0	.	235;327	Q8N803;O60303	.;K0556_HUMAN	L	327;234	ENSP00000261588:R327L	ENSP00000261588:R327L	R	+	2	0	KIAA0556	27617189	0.987000	0.35691	0.944000	0.38274	0.766000	0.43426	3.616000	0.54174	1.489000	0.48450	-0.126000	0.14955	CGC	.		0.582	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27709688	G	T	27709688	3	4	31	1	0	0	0	0	1	0	0	0	8210	1087	38	2	1014	2	KIAA0556	16	27709688	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2800274	27709688	62645065	1853	7405											
SH2B1	25970	broad.mit.edu	37	chr16	28878275	28878275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaggagggcagcctcagtGgcagaagtgtcgcctgctgc	18	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:28878275G>T	ENST00000322610.8	+	4	1299	c.860G>T	c.(859-861)tGg>tTg	p.W287L	SH2B1_ENST00000395532.4_Missense_Mutation_p.W287L|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.W287L|SH2B1_ENST00000337120.5_Missense_Mutation_p.W287L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	287	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAGCCTCAGTGGCAGAAGTGT	0.652																																					p.W287L		.											.	SH2B1-92	0			c.G860T						.						18	20	20					16																	28878275		2145	4246	6391	SO:0001583	missense	25970	exon2			CTCAGTGGCAGAA	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.860G>T	16.37:g.28878275G>T	ENSP00000321221:p.Trp287Leu	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	16	3	NM_001145796	0	0	0	0	0	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887754	0.72410	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	3.96	3.96	0.45880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000005	D	0.89949	0.6863	M	0.63843	1.955	0.58432	D	0.999999	P;P;D	0.76494	0.765;0.765;0.999	P;P;D	0.85130	0.485;0.586;0.997	D	0.90556	0.4512	10	0.87932	D	0	-13.572	11.3796	0.49750	0.0:0.0:1.0:0.0	.	287;287;287	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	L	287	ENSP00000321221:W287L;ENSP00000352232:W287L;ENSP00000378903:W287L;ENSP00000337163:W287L	ENSP00000321221:W287L	W	+	2	0	SH2B1	28785776	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.756000	0.91651	2.060000	0.61445	0.462000	0.41574	TGG	.		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		T	28878275	G	T	28878275	3	4	31	1	0	0	0	0	1	0	0	0	14272	1357	47	3	862	3	SH2B1	16	28878275	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1168587	28878275	61476478	1854	7406											
NFATC2IP	84901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28970367	28970367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacgtcccaacagctccaGctccgggtgcagggaaagga	14	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:28970367G>T	ENST00000320805.4	+	7	1122	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.Q70H|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.Q57H|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	349	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AACAGCTCCAGCTCCGGGTGC	0.587																																					p.Q349H		.											.	NFATC2IP-91	0			c.G1047T						.						71	66	68					16																	28970367		2197	4300	6497	SO:0001583	missense	84901	exon7			GCTCCAGCTCCGG	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1047G>T	16.37:g.28970367G>T	ENSP00000324792:p.Gln349His	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	254	92	NM_032815	0	0	0	0	0	B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672350	0.47781	.	.	ENSG00000176953	ENST00000320805	T	0.32753	1.44	5.1	0.668	0.17912	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	0.313585	0.22983	N	0.053283	T	0.32941	0.0846	L	0.43152	1.355	0.27109	N	0.962431	D;P	0.62365	0.991;0.514	P;B	0.59115	0.852;0.351	T	0.14699	-1.0463	10	0.66056	D	0.02	-11.9248	2.0724	0.03616	0.177:0.1541:0.5101:0.1589	.	349;68	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	H	349	ENSP00000324792:Q349H	ENSP00000324792:Q349H	Q	+	3	2	NFATC2IP	28877868	0.962000	0.33011	0.997000	0.53966	0.855000	0.48748	0.332000	0.19751	0.181000	0.19994	0.462000	0.41574	CAG	.		0.587	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		T	28970367	G	T	28970367	3	4	31	1	0	0	0	0	1	0	0	0	10402	962	34	3	1073	3	NFATC2IP	16	28970367	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	92092	28970367	61384386	1855	7407											
C16orf92	146378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30035165	30035165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaggctgctggctgtggCccagtttattggagagaaac	14	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:30035165C>A	ENST00000300575.2	+	2	269	c.248C>A	c.(247-249)gCc>gAc	p.A83D	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	83						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						CTGGCTGTGGCCCAGTTTATT	0.582																																					p.A83D		.											.	C16orf92-68	0			c.C248A						.						38	40	39					16																	30035165		1949	4130	6079	SO:0001583	missense	146378	exon2			CTGTGGCCCAGTT	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.248C>A	16.37:g.30035165C>A	ENSP00000300575:p.Ala83Asp	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	137	72	NM_001109660	0	0	0	0	0	Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153140	0.78001	.	.	ENSG00000167194	ENST00000300575	T	0.30714	1.52	5.4	4.39	0.52855	.	0.150412	0.31370	N	0.007773	T	0.38825	0.1055	L	0.32530	0.975	0.32131	N	0.586759	D;D	0.63046	0.992;0.979	D;P	0.63381	0.914;0.816	T	0.43669	-0.9377	10	0.59425	D	0.04	-19.4427	10.5951	0.45331	0.2818:0.7182:0.0:0.0	.	83;61	Q96LL3;Q96LL3-2	CP092_HUMAN;.	D	83	ENSP00000300575:A83D	ENSP00000300575:A83D	A	+	2	0	C16orf92	29942666	0.996000	0.38824	0.990000	0.47175	0.970000	0.65996	2.386000	0.44380	2.527000	0.85204	0.655000	0.94253	GCC	.		0.582	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659		A	30035165	C	A	30035165	3	1	31	1	0	0	0	0	1	0	0	0	1850	739	26	3	268	3	C16orf92	16	30035165	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1064798	30035165	60319588	1856	7408											
FBXL19	54620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	30958250	30958250	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccactccgcgagaccctGgtgcacctcaatcttgctgg	9	17	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:30958250G>T	ENST00000380310.2	+	10	2045	c.1887G>T	c.(1885-1887)ctG>ctT	p.L629L	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000562319.1_Silent_p.L609L|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Silent_p.L493L|FBXL19_ENST00000471231.2_Silent_p.L317L|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000338343.4_Silent_p.L609L	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	629					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCGAGACCCTGGTGCACCTCA	0.682																																					p.L629L		.											.	FBXL19-661	0			c.G1887T						.						16	19	18					16																	30958250		2131	4233	6364	SO:0001819	synonymous_variant	54620	exon10			GACCCTGGTGCAC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1887G>T	16.37:g.30958250G>T		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	155	39	NM_001099784	0	0	0	0	0	A8MT10|Q8N789|Q9NT14	Silent	SNP	ENST00000380310.2	37	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569449	0.13560	.	.	ENSG00000099364	ENST00000427128	.	.	.	5.47	3.14	0.36123	.	.	.	.	.	T	0.56615	0.1997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52734	-0.8536	4	.	.	.	-6.7392	7.8578	0.29493	0.0:0.433:0.3542:0.2128	.	.	.	.	C	521	.	.	G	+	1	0	FBXL19	30865751	0.991000	0.36638	1.000000	0.80357	0.958000	0.62258	0.288000	0.18939	1.289000	0.44618	0.555000	0.69702	GGT	.		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30958250	G	T	30958250	2	4	31	1	0	0	0	0	0	0	0	1	5737	1335	47	3		3	FBXL19	16	30958250	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	923085	30958250	59396503	1857	7409											
TRIM72	493829	hgsc.bcm.edu	37	chr16	31235631	31235631	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacccgcgccagttcgacaAggcggtggcggtggtggcgc	19	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31235631A>T	ENST00000322122.3	+	7	1273	c.989A>T	c.(988-990)aAg>aTg	p.K330M	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CAGTTCGACAAGGCGGTGGCG	0.721																																					p.K330M		.											.	TRIM72-44	0			c.A989T						.						12	13	13					16																	31235631		2189	4275	6464	SO:0001583	missense	493829	exon7			TCGACAAGGCGGT	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.989A>T	16.37:g.31235631A>T	ENSP00000312675:p.Lys330Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	60	12	NM_001008274	0	0	0	0	0		Missense_Mutation	SNP	ENST00000322122.3	37	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725905	0.69074	.	.	ENSG00000177238	ENST00000322122	T	0.10960	2.82	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000002	T	0.30978	0.0782	M	0.66939	2.045	0.45762	D	0.998651	D	0.76494	0.999	D	0.87578	0.998	T	0.01305	-1.1390	10	0.44086	T	0.13	.	14.4639	0.67470	1.0:0.0:0.0:0.0	.	330	Q6ZMU5	TRI72_HUMAN	M	330	ENSP00000312675:K330M	ENSP00000312675:K330M	K	+	2	0	TRIM72	31143132	0.986000	0.35501	1.000000	0.80357	0.909000	0.53808	0.889000	0.28282	2.077000	0.62373	0.402000	0.26972	AAG	.		0.721	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		T	31235631	A	T	31235631	3	4	31	1	0	0	0	0	1	0	0	0	16593	72	3	5	1011	5	TRIM72	16	31235631	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	277381	31235631	59119122	1858	7410											
ITGAX	3687	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	31374306	31374306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggacgtagacagcgaCggcagcaccgacctggtcct	13	14	0	1	rs147598964	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31374306C>T	ENST00000268296.4	+	13	1531	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	ITGAX_ENST00000562522.1_Silent_p.D470D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	470					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.D470D(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						TAGACAGCGACGGCAGCACCG	0.672													c|||	4	0.000798722	0	0	5008	,	,		11633	0		0.002	False		,,,				2504	0.002				p.D470D		.											.	ITGAX-229	1	Substitution - coding silent(1)	endometrium(1)	c.C1410T						.	T		2,4392	4.2+/-10.8	0,2,2195	62	66	65		1410	-2	0.8	16	dbSNP_134	65	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ITGAX	NM_000887.3		0,21,6476	TT,TC,CC		0.2209,0.0455,0.1616		470/1164	31374306	21,12973	2197	4300	6497	SO:0001819	synonymous_variant	3687	exon13			CAGCGACGGCAGC	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.1410C>T	16.37:g.31374306C>T		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	201	37	NM_000887	0	0	0	0	0	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																			C|0.998;T|0.002		0.672	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31374306	C	T	31374306	2	4	31	1	0	0	0	0	0	0	0	1	7916	535	19	1		1	ITGAX	16	31374306	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	138675	31374306	58980447	1859	7411											
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31477303	31477303	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgcccttcatctgccGgtgagtgggaagtgggtgcc	15	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31477303G>T	ENST00000563544.1	+	6	2543	c.1997G>T	c.(1996-1998)cGg>cTg	p.R666L	ARMC5_ENST00000538189.1_Splice_Site_p.R698L|ARMC5_ENST00000412665.2_Splice_Site_p.R310L|ARMC5_ENST00000268314.4_Splice_Site_p.R666L|ARMC5_ENST00000408912.3_Splice_Site_p.R761L|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	666										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCATCTGCCGGTGAGTGGGA	0.652																																					p.R666L		.											.	ARMC5-24	0			c.G1997T						.						53	65	61					16																	31477303		2177	4279	6456	SO:0001630	splice_region_variant	79798	exon5			TCTGCCGGTGAGT	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.1997+1G>T	16.37:g.31477303G>T		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	61	28	NM_001105247	0	0	0	0	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578292	0.86645	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.8	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.072786	0.64402	D	0.000012	T	0.26484	0.0647	L	0.55481	1.735	0.50632	D	0.999885	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.986;0.986;0.986;0.976	T	0.00167	-1.1964	10	0.87932	D	0	-41.4749	11.8922	0.52635	0.083:0.0:0.917:0.0	.	698;698;761;666	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	L	761;698;666;310	ENSP00000386125:R761L;ENSP00000443995:R698L;ENSP00000268314:R666L;ENSP00000400183:R310L	ENSP00000268314:R666L	R	+	2	0	ARMC5	31384804	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.678000	0.54627	2.735000	0.93741	0.655000	0.94253	CGG	.		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	Missense_Mutation	T	31477303	G	T	31477303	5	4	31	1	0	0	0	0	0	0	1	0	955	1130	39	2	2329	2	ARMC5	16	31477303	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	102997	31477303	58877450	1860	7412											
SHCBP1	79801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	46637518	46637518	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggccaggacaaacaatAacagtgtcaccttcgaagca	8	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:46637518A>C	ENST00000303383.3	-	8	1412	c.1146T>G	c.(1144-1146)gtT>gtG	p.V382V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	382					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GACAAACAATAACAGTGTCAC	0.403																																					p.V382V		.											.	SHCBP1-154	0			c.T1146G						.						132	99	111					16																	46637518		2203	4300	6503	SO:0001819	synonymous_variant	79801	exon8			AACAATAACAGTG	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1146T>G	16.37:g.46637518A>C		Somatic	282	0		WXS	Illumina GAIIx	Phase_I	334	148	NM_024745	0	0	0	0	0	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	CCDS10720.1																																																																																			.		0.403	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		C	46637518	A	C	46637518	2	2	31	1	0	0	0	0	0	0	0	1	14319	349	13	5		5	SHCBP1	16	46637518	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	15160215	46637518	43717235	1861	7413											
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	48134826	48134826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccataggcgtgaatgatgcCcaggccctgcatggaggagg	16	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48134826C>A	ENST00000311303.3	-	21	3340	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G920V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	999	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)			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)				TGAATGATGCCCAGGCCCTGC	0.587																																					p.G999C		.											.	ABCC12-93	0			c.G2995T						.						122	104	110					16																	48134826		2201	4300	6501	SO:0001583	missense	94160	exon21			TGATGCCCAGGCC	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.2995G>T	16.37:g.48134826C>A	ENSP00000311030:p.Gly999Cys	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	203	78	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.162193|3.162193	0.57368|0.57368	.|.	.|.	ENSG00000140798|ENSG00000140798	ENST00000311303;ENST00000449939|ENST00000448542	D|D	0.89485|0.92911	-2.52|-3.13	5.39|5.39	4.44|4.44	0.53790|0.53790	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.161269|0.161269	0.56097|0.56097	D|D	0.000024|0.000024	D|D	0.89674|0.89674	0.6783|0.6783	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	B|.	0.26041|.	0.14|.	B|.	0.31686|.	0.134|.	D|D	0.89426|0.89426	0.3713|0.3713	10|8	0.72032|0.87932	D|D	0.01|0	.|.	10.1043|10.1043	0.42524|0.42524	0.0:0.9074:0.0:0.0926|0.0:0.9074:0.0:0.0926	.|.	999|.	Q96J65|.	MRP9_HUMAN|.	C|V	999;917|920	ENSP00000311030:G999C|ENSP00000401855:G920V	ENSP00000311030:G999C|ENSP00000401855:G920V	G|G	-|-	1|2	0|0	ABCC12|ABCC12	46692327|46692327	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.702000|0.702000	0.40608|0.40608	1.636000|1.636000	0.37144|0.37144	1.257000|1.257000	0.44085|0.44085	0.561000|0.561000	0.74099|0.74099	GGC|GGG	.		0.587	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48134826	C	A	48134826	3	1	31	1	0	0	0	0	1	0	0	0	52	623	22	3	1120	3	ABCC12	16	48134826	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1497308	48134826	42219927	1862	7414											
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	48173122	48173122	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatcccgatgagagctgtGggccccagaatgaaaaaggc	13	9	0	3	rs374820619		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48173122G>T	ENST00000311303.3	-	5	1128	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ABCC12_ENST00000416054.1_Silent_p.P261P|ABCC12_ENST00000448542.1_Silent_p.P261P	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	261	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAGAGCTGTGGGCCCCAGAA	0.478																																					p.P261P		.											.	ABCC12-93	0			c.C783A						.						130	118	122					16																	48173122		2201	4300	6501	SO:0001819	synonymous_variant	94160	exon5			AGCTGTGGGCCCC	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.783C>A	16.37:g.48173122G>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	116	22	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																			.		0.478	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		T	48173122	G	T	48173122	2	4	31	1	0	0	0	0	0	0	0	1	52	1335	47	3		3	ABCC12	16	48173122	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	38296	48173122	42181631	1863	7415											
ABCC11	85320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	48234290	48234290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtccacagcagacaggGggtcgtccagcaggtagatc	16	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48234290G>A	ENST00000394747.1	-	14	2328	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	ABCC11_ENST00000394748.1_Missense_Mutation_p.P660L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P660L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P660L|ABCC11_ENST00000353782.5_Missense_Mutation_p.P660L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	660	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCAGACAGGGGGTCGTCCAG	0.607																																					p.P660L		.											.	ABCC11-95	0			c.C1979T						.						89	74	80					16																	48234290		2201	4300	6501	SO:0001583	missense	85320	exon14			GACAGGGGGTCGT	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.1979C>T	16.37:g.48234290G>A	ENSP00000378230:p.Pro660Leu	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	150	78	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933689	0.92458	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.7	5.7	0.88788	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.99383	1.0923	10	0.66056	D	0.02	-26.648	17.3327	0.87269	0.0:0.0:1.0:0.0	.	660;660	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	660	ENSP00000311326:P660L;ENSP00000349017:P660L;ENSP00000378231:P660L;ENSP00000378230:P660L;ENSP00000438530:P660L	ENSP00000311326:P660L	P	-	2	0	ABCC11	46791791	1.000000	0.71417	0.995000	0.50966	0.688000	0.40055	9.324000	0.96373	2.703000	0.92315	0.655000	0.94253	CCC	.		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48234290	G	A	48234290	3	1	31	1	0	0	0	0	1	0	0	0	51	1232	43	3	2233	3	ABCC11	16	48234290	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	61168	48234290	42120463	1864	7416											
NOD2	64127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50744557	50744557	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctatgatggagcagagacGctctgcctggaggacatata	12	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:50744557G>T	ENST00000300589.2	+	4	840	c.735G>T	c.(733-735)acG>acT	p.T245T	NOD2_ENST00000526417.2_3'UTR|RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	245					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)				GAGCAGAGACGCTCTGCCTGG	0.587																																					p.T245T		.											.	NOD2-231	0			c.G735T						.						66	61	63					16																	50744557		2198	4300	6498	SO:0001819	synonymous_variant	64127	exon4			AGAGACGCTCTGC	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.735G>T	16.37:g.50744557G>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	129	28	NM_022162	0	0	0	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	CCDS10746.1																																																																																			.		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50744557	G	T	50744557	2	4	31	1	0	0	0	0	0	0	0	1	10556	1074	38	2		2	NOD2	16	50744557	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2510267	50744557	39610196	1865	7417											
SALL1	6299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	51173113	51173113	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgacaagcaaatgttttgCcacaaatgtcacaagcagtg	8	9	2	1	rs369680112		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:51173113C>G	ENST00000251020.4	-	2	3053	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G910A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1007					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)			AAATGTTTTGCCACAAATGTC	0.403																																					p.G1007A	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.G3020C						.						75	76	76					16																	51173113		2198	4300	6498	SO:0001583	missense	6299	exon2			GTTTTGCCACAAA	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.3020G>C	16.37:g.51173113C>G	ENSP00000251020:p.Gly1007Ala	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	120	23	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443563	0.63067	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.35789	1.29;1.29	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61594	-0.7031	10	0.59425	D	0.04	.	19.6099	0.95600	0.0:1.0:0.0:0.0	.	1007	Q9NSC2	SALL1_HUMAN	A	1007;910;971	ENSP00000251020:G1007A;ENSP00000407914:G910A	ENSP00000251020:G1007A	G	-	2	0	SALL1	49730614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.626000	0.88956	0.557000	0.71058	GGC	.		0.403	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51173113	C	G	51173113	3	3	31	1	0	0	0	0	1	0	0	0	13855	739	26	3	962	3	SALL1	16	51173113	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	428556	51173113	39181640	1866	7418											
SALL1	6299	bcgsc.ca	37	chr16	51175720	51175720	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgccgctggaagtgCcgctgccgcttttgttagca	14	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:51175720C>G	ENST00000251020.4	-	2	446	c.413G>C	c.(412-414)gGc>gCc	p.G138A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G41A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	138					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)			GCTGGAAGTGCCGCTGCCGCT	0.632																																					p.G138A	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.G413C						.						39	43	42					16																	51175720		2198	4300	6498	SO:0001583	missense	6299	exon2			GAAGTGCCGCTGC	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.413G>C	16.37:g.51175720C>G	ENSP00000251020:p.Gly138Ala	Somatic	70	3		WXS	Illumina GAIIx	Phase_I	110	47	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	2.703	-0.270534	0.05716	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.05717	3.4;3.4	5.39	4.44	0.53790	.	0.590367	0.19638	N	0.109519	T	0.04452	0.0122	N	0.19112	0.55	0.23215	N	0.998106	B	0.09022	0.002	B	0.09377	0.004	T	0.38779	-0.9645	10	0.09084	T	0.74	.	13.5049	0.61479	0.0:0.925:0.0:0.075	.	138	Q9NSC2	SALL1_HUMAN	A	138;41	ENSP00000251020:G138A;ENSP00000407914:G41A	ENSP00000251020:G138A	G	-	2	0	SALL1	49733221	0.029000	0.19370	0.059000	0.19551	0.036000	0.12997	1.974000	0.40559	2.514000	0.84764	0.555000	0.69702	GGC	.		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51175720	C	G	51175720	3	3	31	1	0	0	0	0	1	0	0	0	13855	739	26	3	3569	3	SALL1	16	51175720	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2607	51175720	39179033	1867	7419											
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	55360430	55360430	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctatggagcaccctatgcGgccgctgcagctgcccagag	12	14	1	1	rs544733025		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55360430G>T	ENST00000290552.7	+	2	1560	c.228G>T	c.(226-228)gcG>gcT	p.A76A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	76					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CACCCTATGCGGCCGCTGCAG	0.672																																					p.A76A		.											.	IRX6-174	0			c.G228T						.						14	13	13					16																	55360430		2195	4298	6493	SO:0001819	synonymous_variant	79190	exon2			CTATGCGGCCGCT	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.228G>T	16.37:g.55360430G>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	126	56	NM_024335	0	0	0	0	0	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																			.		0.672	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55360430	G	T	55360430	2	4	31	1	0	0	0	0	0	0	0	1	7875	1103	39	2		2	IRX6	16	55360430	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4184710	55360430	34994323	1868	7420											
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	55362936	55362936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacccatgcttggagaaacCgcgcatctggtctctggcgc	11	14	2	1	rs200996745		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55362936C>A	ENST00000290552.7	+	5	2378	c.1046C>A	c.(1045-1047)cCg>cAg	p.P349Q	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	349					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTGGAGAAACCGCGCATCTGG	0.602																																					p.P349Q		.											.	IRX6-174	0			c.C1046A						.						53	50	51					16																	55362936		2198	4299	6497	SO:0001583	missense	79190	exon5			AGAAACCGCGCAT	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1046C>A	16.37:g.55362936C>A	ENSP00000290552:p.Pro349Gln	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	156	31	NM_024335	0	0	0	0	0	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086634	0.94100	.	.	ENSG00000159387	ENST00000290552	D	0.96491	-4.03	5.4	5.4	0.78164	Iroquois-class homeodomain protein (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	D	0.97137	0.9822	10	0.87932	D	0	-20.4504	16.0965	0.81129	0.0:1.0:0.0:0.0	.	349	P78412	IRX6_HUMAN	Q	349	ENSP00000290552:P349Q	ENSP00000290552:P349Q	P	+	2	0	IRX6	53920437	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.189000	0.77747	2.532000	0.85374	0.561000	0.74099	CCG	C|0.999;T|0.000		0.602	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		A	55362936	C	A	55362936	3	1	31	1	0	0	0	0	1	0	0	0	7875	652	23	2	1064	2	IRX6	16	55362936	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2506	55362936	34991817	1869	7421											
CES7	221223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	55880508	55880508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcggttctttgagtctctgtCcgaggctcatgttcaagtcc	11	11	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55880508C>A	ENST00000290567.9	-	13	1704	c.1583G>T	c.(1582-1584)gGa>gTa	p.G528V	CES5A_ENST00000319165.9_Missense_Mutation_p.G478V|CES5A_ENST00000518005.1_Missense_Mutation_p.G422V|CES5A_ENST00000520435.1_Missense_Mutation_p.G498V|CES5A_ENST00000521992.1_Missense_Mutation_p.G557V|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	528						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						GAGTCTCTGTCCGAGGCTCAT	0.527																																					p.G557V		.											.	CES5A-94	0			c.G1670T						.						213	208	210					16																	55880508		2198	4300	6498	SO:0001583	missense	221223	exon14			CTCTGTCCGAGGC	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.1583G>T	16.37:g.55880508C>A	ENSP00000290567:p.Gly528Val	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	141	73	NM_001190158	0	0	0	0	0	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.881996	0.51908	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.51	4.56	0.56223	Carboxylesterase, type B (1);	0.167616	0.28712	N	0.014396	T	0.74382	0.3709	L	0.50847	1.595	0.25415	N	0.988326	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	T	0.65203	-0.6225	10	0.66056	D	0.02	.	8.3719	0.32421	0.0:0.7617:0.155:0.0833	.	528;478	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	V	557;478;422;528;498;308	ENSP00000428864:G557V;ENSP00000324271:G478V;ENSP00000428571:G422V;ENSP00000290567:G528V;ENSP00000428887:G498V	ENSP00000290567:G528V	G	-	2	0	CES5A	54438009	0.026000	0.19158	0.007000	0.13788	0.004000	0.04260	1.197000	0.32211	1.455000	0.47813	0.655000	0.94253	GGA	.		0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		A	55880508	C	A	55880508	3	1	31	1	0	0	0	0	1	0	0	0	3279	855	30	3	148	3	CES7	16	55880508	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	517572	55880508	34474245	1870	7422											
NUP93	9688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	56782300	56782300	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcctgcgttcccgtacCctaacacgcacgtcccagga	10	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:56782300C>G	ENST00000308159.5	+	2	262	c.141C>G	c.(139-141)acC>acG	p.T47T	NUP93_ENST00000569842.1_Silent_p.T47T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	47					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTTCCCGTACCCTAACACGCA	0.577																																					p.T47T	Colon(33;610 796 1305 1705 38917)	.											.	NUP93-205	0			c.C141G						.						45	42	43					16																	56782300		2198	4300	6498	SO:0001819	synonymous_variant	9688	exon2			CCGTACCCTAACA	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.141C>G	16.37:g.56782300C>G		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	77	32	NM_014669	0	0	0	0	0	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																			.		0.577	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		G	56782300	C	G	56782300	2	3	31	1	0	0	0	0	0	0	0	1	10811	610	22	3		3	NUP93	16	56782300	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	901792	56782300	33572453	1871	7423											
SLC12A3	6559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	56936360	56936360	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgaggccactgtcaacgaGatgcggcgggactgcccctg	15	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:56936360G>A	ENST00000563236.1	+	24	2821	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	SLC12A3_ENST00000566786.1_Silent_p.E940E|SLC12A3_ENST00000438926.2_Silent_p.E941E|SLC12A3_ENST00000262502.5_Silent_p.E931E			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	932					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGTCAACGAGATGCGGCGGG	0.552																																					p.E941E		.											.	SLC12A3-155	0			c.G2823A						.						108	90	96					16																	56936360		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon24			CAACGAGATGCGG		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2796G>A	16.37:g.56936360G>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	157	28	NM_000339	0	0	0	0	0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																			.		0.552	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			A	56936360	G	A	56936360	2	1	31	1	0	0	0	0	0	0	0	1	14429	933	33	3		3	SLC12A3	16	56936360	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	154060	56936360	33418393	1872	7424											
CCDC135	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57732900	57732900	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcccggaccgcgtgccCctcttcctgcaccccctgaa	9	20	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:57732900C>A	ENST00000360716.3	+	4	563	c.342C>A	c.(340-342)ccC>ccA	p.P114P	CCDC135_ENST00000394337.4_Silent_p.P114P|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Silent_p.P114P			Q8IY82	CC135_HUMAN		114					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						ACCGCGTGCCCCTCTTCCTGC	0.622																																					p.P114P		.											.	CCDC135-90	0			c.C342A						.						145	142	143					16																	57732900		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon3			CGTGCCCCTCTTC																												ENST00000360716.3:c.342C>A	16.37:g.57732900C>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	114	24	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			A	57732900	C	A	57732900	2	1	31	1	0	0	0	0	0	0	0	1	2776	610	22	3		3	CCDC135	16	57732900	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	796540	57732900	32621853	1873	7425											
CCDC135	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57735916	57735916	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactgctttgacttcagtacGctgctctgctccatgcttat	7	12	2	1	rs574958651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:57735916G>C	ENST00000360716.3	+	6	794	c.573G>C	c.(571-573)acG>acC	p.T191T	CCDC135_ENST00000394337.4_Silent_p.T191T|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Intron			Q8IY82	CC135_HUMAN		191					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						ACTTCAGTACGCTGCTCTGCT	0.592																																					p.T191T		.											.	CCDC135-90	0			c.G573C						.						182	136	152					16																	57735916		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon5			CAGTACGCTGCTC																												ENST00000360716.3:c.573G>C	16.37:g.57735916G>C		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	195	25	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			C	57735916	G	C	57735916	2	2	31	1	0	0	0	0	0	0	0	1	2776	1074	38	2		2	CCDC135	16	57735916	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3016	57735916	32618837	1874	7426											
SLC38A7	55238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	58713931	58713931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccactcactcttgggggCtgtgtccacacagggactct	10	14	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:58713931C>A	ENST00000570101.1	-	2	983	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	SLC38A7_ENST00000219320.4_Missense_Mutation_p.A34S|SLC38A7_ENST00000564100.1_Missense_Mutation_p.A34S|SLC38A7_ENST00000564391.1_Missense_Mutation_p.A34S|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	34					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTCTTGGGGGCTGTGTCCACA	0.627																																					p.A34S		.											.	SLC38A7-69	0			c.G100T						.						34	32	33					16																	58713931		2198	4300	6498	SO:0001583	missense	55238	exon3			TGGGGGCTGTGTC	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.100G>T	16.37:g.58713931C>A	ENSP00000454646:p.Ala34Ser	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	80	32	NM_018231	0	0	0	0	0	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698439	0.30142	.	.	ENSG00000103042	ENST00000219320	T	0.09538	2.97	5.66	5.66	0.87406	.	0.415584	0.30028	N	0.010584	T	0.07369	0.0186	N	0.12182	0.205	0.23346	N	0.997867	B;B	0.19583	0.001;0.037	B;B	0.12837	0.002;0.008	T	0.33240	-0.9876	9	.	.	.	-0.0325	16.901	0.86113	0.0:1.0:0.0:0.0	.	34;34	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	S	34	ENSP00000219320:A34S	.	A	-	1	0	SLC38A7	57271432	0.016000	0.18221	0.438000	0.26821	0.986000	0.74619	2.250000	0.43178	2.673000	0.90976	0.561000	0.74099	GCC	.		0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		A	58713931	C	A	58713931	3	1	31	1	0	0	0	0	1	0	0	0	14654	797	28	3	1328	3	SLC38A7	16	58713931	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	978015	58713931	31640822	1875	7427											
GOT2	2806	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	58768113	58768113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcccggggaggacgcggCcggagtgcagcagggccatg	19	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:58768113C>A	ENST00000245206.5	-	1	148	c.20G>T	c.(19-21)gGc>gTc	p.G7V	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.G7V	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	7					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GAGGACGCGGCCGGAGTGCAG	0.721																																					p.G7V		.											.	GOT2-91	0			c.G20T						.						7	8	7					16																	58768113		2095	4157	6252	SO:0001583	missense	2806	exon1			ACGCGGCCGGAGT		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.20G>T	16.37:g.58768113C>A	ENSP00000245206:p.Gly7Val	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	127	44	NM_002080	0	0	0	0	0	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032676	0.35893	.	.	ENSG00000125166	ENST00000245206;ENST00000434819;ENST00000425685	T;T	0.17691	2.26;2.3	4.94	3.98	0.46160	.	0.678056	0.15664	N	0.250772	T	0.13798	0.0334	L	0.36672	1.1	0.32789	N	0.501456	B;B	0.15141	0.012;0.012	B;B	0.16289	0.015;0.015	T	0.11348	-1.0591	9	.	.	.	-3.1049	10.824	0.46620	0.0:0.7859:0.2141:0.0	.	7;7	E7ERW2;P00505	.;AATM_HUMAN	V	7	ENSP00000245206:G7V;ENSP00000394100:G7V	.	G	-	2	0	GOT2	57325614	0.742000	0.28228	0.410000	0.26471	0.501000	0.33797	1.833000	0.39161	1.268000	0.44264	0.563000	0.77884	GGC	.		0.721	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			A	58768113	C	A	58768113	3	1	31	1	0	0	0	0	1	0	0	0	6607	739	26	3	1312	3	GOT2	16	58768113	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	54182	58768113	31586640	1876	7428											
CDH8	1006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	61851398	61851398	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aataccttataggactggaaGtgatatcagggtcacgagca	11	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:61851398G>C	ENST00000577390.1	-	7	2216	c.1262C>G	c.(1261-1263)aCt>aGt	p.T421S	CDH8_ENST00000577730.1_Missense_Mutation_p.T421S|CDH8_ENST00000299345.6_Missense_Mutation_p.T421S|CDH8_ENST00000584337.1_Missense_Mutation_p.T421S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.T421I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGACTGGAAGTGATATCAGG	0.433																																					p.T421S		.											.	CDH8-161	1	Substitution - Missense(1)	lung(1)	c.C1262G						.						69	66	67					16																	61851398		2203	4300	6503	SO:0001583	missense	1006	exon7			CTGGAAGTGATAT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1262C>G	16.37:g.61851398G>C	ENSP00000462701:p.Thr421Ser	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	134	53	NM_001796	0	0	0	0	0	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379611	0.24944	.	.	ENSG00000150394	ENST00000299345	T	0.58940	0.3	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.190689	0.56097	D	0.000028	T	0.50786	0.1636	L	0.35288	1.05	0.44937	D	0.997954	B;B	0.10296	0.003;0.0	B;B	0.18871	0.023;0.002	T	0.37150	-0.9718	10	0.21540	T	0.41	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	237;421	Q3LID3;P55286	.;CADH8_HUMAN	S	421	ENSP00000299345:T421S	ENSP00000299345:T421S	T	-	2	0	CDH8	60408899	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.327000	0.65881	2.894000	0.99253	0.655000	0.94253	ACT	.		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61851398	G	C	61851398	3	2	31	1	0	0	0	0	1	0	0	0	3123	1029	36	3	1161	3	CDH8	16	61851398	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3083285	61851398	28503355	1877	7429											
TRADD	8717	hgsc.bcm.edu	37	chr16	67189373	67189373	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctccagttgcagcggCaccgagtgctgggcgagcgc	16	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:67189373C>A	ENST00000345057.4	-	3	804	c.336G>T	c.(334-336)gtG>gtT	p.V112V	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Silent_p.V52V	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	112					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTTGCAGCGGCACCGAGTGCT	0.751																																					p.V112V		.											.	TRADD-659	0			c.G336T						.						5	6	5					16																	67189373		1700	3664	5364	SO:0001819	synonymous_variant	8717	exon3			CAGCGGCACCGAG	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.336G>T	16.37:g.67189373C>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	22	13	NM_003789	0	0	0	0	0	B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	CCDS10829.1																																																																																			.		0.751	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			A	67189373	C	A	67189373	2	1	31	1	0	0	0	0	0	0	0	1	16484	697	25	3		3	TRADD	16	67189373	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5337975	67189373	23165380	1878	7430											
FAM65A	79567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	67579578	67579579	+	Missense_Mutation	DNP	CG	CG	TT													ttttttcagtgctactggtgCggaatctgaactcggatgat					rs375623923		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:67579578_67579579CG>TT	ENST00000379312.3	+	19	3335_3336	c.3214_3215CG>TT	c.(3214-3216)CGg>TTg	p.R1072L	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R1087L|FAM65A_ENST00000042381.4_Missense_Mutation_p.R1068L|FAM65A_ENST00000428437.2_Missense_Mutation_p.R1082L|FAM65A_ENST00000422602.2_Missense_Mutation_p.R1088L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1072						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)		GCTACTGGTGCGGAATCTGAAC	0.634																																					p.R1088L		.											.	FAM65A-92	0			c.G3263T						.																																			SO:0001583	missense	79567	exon19			TGGTGCGGAATCT	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	Exception_encountered	16.37:g.67579578_67579579delinsTT	ENSP00000368614:p.Arg1072Leu	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	118	21	NM_001193523	0	0	0	0	0	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	DNP	ENST00000379312.3	37	CCDS54028.1																																																																																			.		0.634	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		TT	67579579	CG	TT	67579578	3	4	31	1	0	0	0	0	1	0	0	0	5621	759	27	1	3272	1	FAM65A	16	67579578	Missense_Mutation	DNP	CG	TCGA-OR-A5KB-01A-11D-A30A-10	390205	67579578	22775175	1879	7431											
DPEP3	64180	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	68012505	68012506	+	Nonsense_Mutation	DNP	GG	GG	TT													ggcagtctggtcctgggactGgcatgagacggaggctgacc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|G	|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:68012505_68012506GG>TT	ENST00000268793.4	-	3	886_887	c.513_514CC>AA	c.(511-516)tgCCag>tgAAag	p.171_172CQ>*K	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	146					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCTGGGACTGGCATGAGACGG	0.614																																					p.Q172K|p.C171X		.											.	DPEP3-71	0			c.C514A|c.C513A						.																																			SO:0001587	stop_gained	64180	exon3			GGGACTGGCATGA|GGACTGGCATGAG	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.513_514delinsTT	16.37:g.68012505_68012506delinsTT	ENSP00000268793:p.C171_Q172delins*K	Somatic	136	1|0		WXS	Illumina GAIIx	Phase_I	171|170	37	NM_001129758	0	0	0	0	0	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1																																																																																			.		0.614	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		TT	68012506	GG	TT	68012505	4	4	31	1	0	0	0	0	0	1	0	0	4729	1357	47	3	1059	3	DPEP3	16	68012505	Nonsense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	432927	68012505	22342248	1880	7432											
SMPD3	55512	bcgsc.ca	37	chr16	68398924	68398924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggcaaccctaccttgCggggcatgcaggtgtgtgca	16	11	0	0	rs1868158	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:68398924C>T	ENST00000219334.5	-	4	1998	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	SMPD3_ENST00000568373.1_Silent_p.P465P|SMPD3_ENST00000563226.1_Silent_p.P465P|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	465					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)	CCCTACCTTGCGGGGCATGCA	0.607													C|||	3167	0.632388	0.6679	0.6671	5008	,	,		18917	0.7698		0.5308	False		,,,				2504	0.5225				p.P465P		.											.	SMPD3-91	0			c.G1395A						.	C		2877,1519	673.2+/-402.8	948,981,269	111	79	90		1395	-3.5	0	16	dbSNP_92	90	4964,3636	624.1+/-397.5	1427,2110,763	no	coding-synonymous	SMPD3	NM_018667.3		2375,3091,1032	TT,TC,CC		42.2791,34.5541,39.6661		465/656	68398924	7841,5155	2198	4300	6498	SO:0001819	synonymous_variant	55512	exon4			ACCTTGCGGGGCA	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.1395G>A	16.37:g.68398924C>T		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	189	6	NM_018667	0	0	0	0	0	B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	CCDS10867.1																																																																																			C|0.368;T|0.632		0.607	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		T	68398924	C	T	68398924	2	4	31	1	0	0	0	0	0	0	0	1	14851	755	27	1		1	SMPD3	16	68398924	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	386419	68398924	21955829	1881	7433											
PDPR	55066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	70182454	70182454	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgctctacatccccataGaggtgagagggcacccttcc	9	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:70182454G>A	ENST00000288050.4	+	17	3007	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PDPR_ENST00000567046.1_Missense_Mutation_p.E42K|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.E584K|PDPR_ENST00000542659.1_Missense_Mutation_p.E29K|PDPR_ENST00000568530.1_Missense_Mutation_p.E684K	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	684					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CATCCCCATAGAGGTGAGAGG	0.577																																					p.E684K		.											.	PDPR-135	0			c.G2050A						.						73	73	73					16																	70182454		2125	4228	6353	SO:0001583	missense	55066	exon17			CCCATAGAGGTGA		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2050G>A	16.37:g.70182454G>A	ENSP00000288050:p.Glu684Lys	Somatic	342	0		WXS	Illumina GAIIx	Phase_I	405	56	NM_017990	0	0	0	0	0	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681499	0.96774	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.77620	-1.11;-1.11;-1.11	5.15	5.15	0.70609	Glycine cleavage T-protein, N-terminal (1);	0.048851	0.85682	D	0.000000	D	0.88822	0.6541	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.72625	0.959;0.978	D	0.90277	0.4312	10	0.66056	D	0.02	.	17.6091	0.88047	0.0:0.0:1.0:0.0	.	412;684	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	K	684;584;412;29	ENSP00000288050:E684K;ENSP00000381190:E584K;ENSP00000441690:E29K	ENSP00000205055:E412K	E	+	1	0	PDPR	68739955	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.805000	0.99149	2.404000	0.81709	0.555000	0.69702	GAG	.		0.577	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		A	70182454	G	A	70182454	3	1	31	1	0	0	0	0	1	0	0	0	11728	943	33	3	2108	3	PDPR	16	70182454	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1783530	70182454	20172299	1882	7434											
FUK	197258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	70512517	70512517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcccacagcctggtaCggcaaactgaggagtgtgct	13	10	0	2	rs528370718		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:70512517C>T	ENST00000288078.6	+	22	3125	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	FUK_ENST00000571514.1_Missense_Mutation_p.R456W|FUK_ENST00000378912.2_Missense_Mutation_p.R971W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	965						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CAGCCTGGTACGGCAAACTGA	0.617																																					p.R965W		.											.	FUK-91	0			c.C2893T						.						44	46	45					16																	70512517		1983	4164	6147	SO:0001583	missense	197258	exon22			CTGGTACGGCAAA		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.2893C>T	16.37:g.70512517C>T	ENSP00000288078:p.Arg965Trp	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	65	29	NM_145059	0	0	0	0	0	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	3.539	-0.094136	0.07053	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.93604	-3.25;-3.25	5.56	2.2	0.27929	.	0.870586	0.10479	N	0.669819	D	0.88819	0.6540	L	0.29908	0.895	0.09310	N	0.999999	P;D;D	0.59357	0.902;0.985;0.985	P;B;B	0.45138	0.471;0.232;0.232	T	0.80238	-0.1465	10	0.72032	D	0.01	-5.8952	7.3288	0.26571	0.4288:0.3367:0.2345:0.0	.	971;871;965	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	W	965;971;279	ENSP00000288078:R965W;ENSP00000368192:R971W	ENSP00000288078:R965W	R	+	1	2	FUK	69070018	0.964000	0.33143	0.026000	0.17262	0.049000	0.14656	2.551000	0.45820	0.661000	0.30985	-0.175000	0.13238	CGG	.		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70512517	C	T	70512517	3	4	31	1	0	0	0	0	1	0	0	0	6120	527	19	1	2975	1	FUK	16	70512517	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	330063	70512517	19842236	1883	7435											
DHX38	9785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	72144969	72144969	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgcagccccctgggcAgtgtcaggtgagctccggcc	15	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:72144969A>T	ENST00000268482.3	+	26	4101	c.3592A>T	c.(3592-3594)Agt>Tgt	p.S1198C	DHX38_ENST00000536867.1_Missense_Mutation_p.S510C	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1198					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCCCTGGGCAGTGTCAGGTG	0.677																																					p.S1198C	Melanoma(97;711 1442 7855 13832 28836)	.											.	DHX38-227	0			c.A3592T						.						13	14	14					16																	72144969		2175	4271	6446	SO:0001583	missense	9785	exon26			CTGGGCAGTGTCA	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3592A>T	16.37:g.72144969A>T	ENSP00000268482:p.Ser1198Cys	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	104	17	NM_014003	0	0	0	0	0	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712087	0.89112	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10382	4.03;2.88	5.45	5.45	0.79879	.	0.160534	0.53938	D	0.000052	T	0.21022	0.0506	M	0.62723	1.935	0.80722	D	1	P;D	0.53151	0.931;0.958	P;P	0.49361	0.49;0.608	T	0.00613	-1.1644	10	0.66056	D	0.02	.	15.5363	0.76004	1.0:0.0:0.0:0.0	.	510;1198	B4DVG8;Q92620	.;PRP16_HUMAN	C	1198;510	ENSP00000268482:S1198C;ENSP00000437898:S510C	ENSP00000268482:S1198C	S	+	1	0	DHX38	70702470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.772000	0.91757	2.067000	0.61834	0.528000	0.53228	AGT	.		0.677	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		T	72144969	A	T	72144969	3	4	31	1	0	0	0	0	1	0	0	0	4525	188	7	5	3690	5	DHX38	16	72144969	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1632452	72144969	18209784	1884	7436											
ZFHX3	463	ucsc.edu;bcgsc.ca	37	chr16	72993272	72993272	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgttgggaacatctTtggatacgcaggagcttttg	11	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:72993272T>A	ENST00000268489.5	-	2	1445	c.773A>T	c.(772-774)aAa>aTa	p.K258I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	258					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)				GGGAACATCTTTGGATACGCA	0.502																																					p.K258I		.											.	ZFHX3-72	0			c.A773T						.						162	142	149					16																	72993272		2198	4300	6498	SO:0001583	missense	463	exon2			ACATCTTTGGATA	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.773A>T	16.37:g.72993272T>A	ENSP00000268489:p.Lys258Ile	Somatic	135	2		WXS	Illumina GAIIx	Phase_I	116	60	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964823	0.34659	.	.	ENSG00000140836	ENST00000268489	T	0.78126	-1.15	4.51	4.51	0.55191	.	0.000000	0.52532	D	0.000078	D	0.85327	0.5671	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87059	0.2152	10	0.87932	D	0	.	14.1268	0.65225	0.0:0.0:0.0:1.0	.	258	Q15911	ZFHX3_HUMAN	I	258	ENSP00000268489:K258I	ENSP00000268489:K258I	K	-	2	0	ZFHX3	71550773	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.948000	0.87774	1.814000	0.52955	0.402000	0.26972	AAA	.		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72993272	T	A	72993272	3	1	31	1	0	0	0	0	1	0	0	0	17682	1841	64	5	10374	5	ZFHX3	16	72993272	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	848303	72993272	17361481	1885	7437											
ADAT1	23536	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	75637040	75637040	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagcagcttctggaatgatCtgaagagttccactttgctg	10	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:75637040C>A	ENST00000307921.3	-	10	1464	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	ADAT1_ENST00000568478.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	440	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTGGAATGATCTGAAGAGTTC	0.413																																					p.R440I		.											.	ADAT1-92	0			c.G1319T						.						291	276	281					16																	75637040		2198	4300	6498	SO:0001583	missense	23536	exon10			AATGATCTGAAGA	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1319G>T	16.37:g.75637040C>A	ENSP00000310015:p.Arg440Ile	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	111	13	NM_012091	0	0	0	0	0	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203892	0.58234	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93859	-3.3	5.5	4.53	0.55603	Adenosine deaminase/editase (3);	0.389335	0.32901	N	0.005511	D	0.93239	0.7846	M	0.67953	2.075	0.42521	D	0.993006	D	0.56287	0.975	P	0.51974	0.686	D	0.91624	0.5313	10	0.39692	T	0.17	-5.1602	9.2489	0.37543	0.0:0.8554:0.0:0.1446	.	440	Q9BUB4	ADAT1_HUMAN	I	440;411	ENSP00000310015:R440I	ENSP00000310015:R440I	R	-	2	0	ADAT1	74194541	0.213000	0.23551	1.000000	0.80357	0.988000	0.76386	1.201000	0.32259	2.732000	0.93576	0.650000	0.86243	AGA	.		0.413	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		A	75637040	C	A	75637040	3	1	31	1	0	0	0	0	1	0	0	0	284	913	32	3	197	3	ADAT1	16	75637040	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2643768	75637040	14717713	1886	7438											
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	76486501	76486501	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccagacttctctggagagGaggaggtttctgccactttt	12	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:76486501G>T	ENST00000476707.1	+	7	1316	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E341*|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.E389*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E317*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	390					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						CTCTGGAGAGGAGGAGGTTTC	0.458																																					p.E317X		.											.	CNTNAP4-70	0			c.G949T						.						101	100	100					16																	76486501		2198	4300	6498	SO:0001587	stop_gained	85445	exon7			GGAGAGGAGGAGG	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.1177G>T	16.37:g.76486501G>T	ENSP00000417628:p.Glu393*	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	64	21	NM_138994	0	0	0	0	0	E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.677251	0.96764	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.52	5.52	0.82312	.	0.523960	0.15646	N	0.251621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2513	0.93926	0.0:0.0:1.0:0.0	.	.	.	.	X	389;341;317;393	.	ENSP00000306893:E389X	E	+	1	0	CNTNAP4	75044002	0.998000	0.40836	0.879000	0.34478	0.789000	0.44602	3.260000	0.51523	2.880000	0.98712	0.655000	0.94253	GAG	.		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		T	76486501	G	T	76486501	4	4	31	1	0	0	0	0	0	1	0	0	3656	1175	41	3	1211	3	CNTNAP4	16	76486501	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	849461	76486501	13868252	1887	7439											
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	76555117	76555117	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccacggagaacttagcgcgGatgtatctttcttttttaag	9	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:76555117G>C	ENST00000476707.1	+	15	2594	c.2455G>C	c.(2455-2457)Gat>Cat	p.D819H	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D767H|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D815H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D743H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	816	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTTAGCGCGGATGTATCTTT	0.388																																					p.D743H		.											.	CNTNAP4-70	0			c.G2227C						.						236	221	226					16																	76555117		1817	4073	5890	SO:0001583	missense	85445	exon15			AGCGCGGATGTAT	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.2455G>C	16.37:g.76555117G>C	ENSP00000417628:p.Asp819His	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	34	15	NM_138994	0	0	0	0	0	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059564	0.76074	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.99	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.42682	D	0.000672	T	0.75064	0.3799	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.83275	0.967;0.996;0.904	T	0.78848	-0.2042	9	0.87932	D	0	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	743;819;816	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	H	815;767;743;819	ENSP00000306893:D815H;ENSP00000439733:D767H;ENSP00000418741:D743H;ENSP00000417628:D819H	ENSP00000306893:D815H	D	+	1	0	CNTNAP4	75112618	1.000000	0.71417	0.713000	0.30519	0.709000	0.40893	9.618000	0.98365	2.610000	0.88304	0.561000	0.74099	GAT	.		0.388	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		C	76555117	G	C	76555117	3	2	31	1	0	0	0	0	1	0	0	0	3656	1174	41	3	2521	3	CNTNAP4	16	76555117	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	68616	76555117	13799636	1888	7440											
VAT1L	57687	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	77913114	77913114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagagcttcttcagctttgCaaaatcagtaagtatccagg	8	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:77913114C>A	ENST00000302536.2	+	6	1028	c.875C>A	c.(874-876)gCa>gAa	p.A292E	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	292							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCAGCTTTGCAAAATCAGTA	0.393																																					p.A292E		.											.	VAT1L-90	0			c.C875A						.						189	176	180					16																	77913114		2198	4300	6498	SO:0001583	missense	57687	exon6			GCTTTGCAAAATC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.875C>A	16.37:g.77913114C>A	ENSP00000303129:p.Ala292Glu	Somatic	252	1		WXS	Illumina GAIIx	Phase_I	161	30	NM_020927	0	0	0	0	0	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204673	0.95033	.	.	ENSG00000171724	ENST00000302536	T	0.30714	1.52	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68606	-0.5364	10	0.87932	D	0	-13.9564	19.8936	0.96942	0.0:1.0:0.0:0.0	.	292	Q9HCJ6	VAT1L_HUMAN	E	292	ENSP00000303129:A292E	ENSP00000303129:A292E	A	+	2	0	VAT1L	76470615	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.463000	0.80869	2.793000	0.96121	0.655000	0.94253	GCA	.		0.393	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		A	77913114	C	A	77913114	3	1	31	1	0	0	0	0	1	0	0	0	17179	710	25	3	897	3	VAT1L	16	77913114	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1357997	77913114	12441639	1889	7441											
C16orf74	404550	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	85743810	85743810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatcatgcccgtgggGgtggggggcgtgatgatgat	20	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:85743810G>T	ENST00000284245.4	-	3	315	c.132C>A	c.(130-132)acC>acA	p.T44T	C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602583.1_Silent_p.T32T|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602719.1_Silent_p.T44T|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602758.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	44																	TGCCCGTGGGGGTGGGGGGCG	0.672																																					p.T44T		.											.	C16orf74-22	0			c.C132A						.						10	13	12					16																	85743810		2087	4196	6283	SO:0001819	synonymous_variant	404550	exon3			CGTGGGGGTGGGG	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.132C>A	16.37:g.85743810G>T		Somatic	58	1		WXS	Illumina GAIIx	Phase_I	79	29	NM_206967	0	0	0	0	0		Silent	SNP	ENST00000284245.4	37	CCDS45540.1																																																																																			.		0.672	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		T	85743810	G	T	85743810	2	4	31	1	0	0	0	0	0	0	0	1	1838	1219	43	3		3	C16orf74	16	85743810	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7830696	85743810	4610943	1890	7442											
ZCCHC14	23174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	87445728	87445728	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgccgggctggagcTgggggctgggcagctgggca	22	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:87445728T>A	ENST00000268616.4	-	12	2405	c.2188A>T	c.(2188-2190)Agc>Tgc	p.S730C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	730	Ser-rich.						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)		GGGCTGGAGCTGGGGGCTGGG	0.627																																					p.S730C		.											.	ZCCHC14-154	0			c.A2188T						.						37	43	41					16																	87445728		2198	4297	6495	SO:0001583	missense	23174	exon12			TGGAGCTGGGGGC	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.2188A>T	16.37:g.87445728T>A	ENSP00000268616:p.Ser730Cys	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	59	11	NM_015144	0	0	0	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	8.735	0.917475	0.17982	.	.	ENSG00000140948	ENST00000268616	T	0.20881	2.04	5.83	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.32530	0.975	0.35426	D	0.793656	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.921	T	0.44682	-0.9312	10	0.72032	D	0.01	-21.6281	11.7661	0.51930	0.0:0.0686:0.0:0.9314	.	730;730	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	730	ENSP00000268616:S730C	ENSP00000268616:S730C	S	-	1	0	ZCCHC14	86003229	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	3.011000	0.49567	1.033000	0.39918	-0.371000	0.07208	AGC	.		0.627	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		A	87445728	T	A	87445728	3	1	31	1	0	0	0	0	1	0	0	0	17631	1580	55	5	669	5	ZCCHC14	16	87445728	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1701918	87445728	2909025	1891	7443											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	26	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	31	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5KB-01A-11D-A30A-10	1153969	88599697	1755056	1892	7444											
VPS53	55275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	505108	505108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttccaggaagggattgGtagatgggggtggagactca	16	6	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:505108G>A	ENST00000571805.1	-	12	1281	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I	VPS53_ENST00000291074.5_Missense_Mutation_p.T353I|VPS53_ENST00000437048.2_Missense_Mutation_p.T382I|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.T105I|VPS53_ENST00000446250.2_Missense_Mutation_p.T184I|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	382					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAAGGGATTGGTAGATGGGGG	0.448																																					p.T382I		.											.	VPS53-90	0			c.C1145T						.						208	199	202					17																	505108		2203	4300	6503	SO:0001583	missense	55275	exon12			GGATTGGTAGATG		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1145C>T	17.37:g.505108G>A	ENSP00000459312:p.Thr382Ile	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	22	NM_001128159	0	0	0	0	0	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193126	0.58017	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.46451	1.5;1.5;1.5;0.87;1.49	5.81	5.81	0.92471	Vps53-like, N-terminal (1);	0.043739	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12569	0.235	0.58432	D	0.999994	B;B;B;B;P	0.39737	0.111;0.054;0.008;0.437;0.685	B;B;B;B;B	0.40009	0.045;0.065;0.014;0.241;0.316	T	0.11616	-1.0580	10	0.44086	T	0.13	-6.6295	17.2658	0.87086	0.0:0.0:1.0:0.0	.	105;382;184;382;353	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	I	382;184;353;105;334	ENSP00000401435:T382I;ENSP00000394386:T184I;ENSP00000291074:T353I;ENSP00000384294:T105I;ENSP00000373692:T334I	ENSP00000291074:T353I	T	-	2	0	VPS53	451858	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.462000	0.60121	2.759000	0.94783	0.573000	0.79308	ACC	.		0.448	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	505108	G	A	505108	3	1	31	1	0	0	0	0	1	0	0	0	17264	1261	44	3	1412	3	VPS53	17	505108	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		505108	80690102	1893	7445											
OR1A2	26189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3101229	3101229	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaacaattatgagtccacgGtcttgtatcctgcttattgc	7	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3101229G>T	ENST00000381951.1	+	1	417	c.417G>T	c.(415-417)cgG>cgT	p.R139R		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	139					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGAGTCCACGGTCTTGTATCC	0.522																																					p.R139R		.											.	OR1A2-70	0			c.G417T						.						159	137	145					17																	3101229		2203	4300	6503	SO:0001819	synonymous_variant	26189	exon1			TCCACGGTCTTGT	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.417G>T	17.37:g.3101229G>T		Somatic	232	0		WXS	Illumina GAIIx	Phase_I	214	46	NM_012352	0	0	0	0	0	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	CCDS11021.1																																																																																			.		0.522	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		T	3101229	G	T	3101229	2	4	31	1	0	0	0	0	0	0	0	1	10989	1248	44	3		3	OR1A2	17	3101229	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2596121	3101229	78093981	1894	7446											
TRPV1	7442	broad.mit.edu;bcgsc.ca	37	chr17	3470249	3470249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctcttaaaagggggaCcagggcaaagttcttccagt	11	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3470249C>A	ENST00000571088.1	-	16	2593	c.2380G>T	c.(2380-2382)Gtc>Ttc	p.V794F	TRPV1_ENST00000425167.2_Missense_Mutation_p.V805F|TRPV1_ENST00000174621.6_Missense_Mutation_p.V792F|SHPK_ENST00000572705.1_Missense_Mutation_p.V794F|TRPV1_ENST00000576351.1_Missense_Mutation_p.V784F|TRPV1_ENST00000310522.5_Missense_Mutation_p.V734F|TRPV1_ENST00000399756.4_Missense_Mutation_p.V794F|TRPV1_ENST00000399759.3_Missense_Mutation_p.V794F	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	794	Interaction with calmodulin. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AAAAGGGGGACCAGGGCAAAG	0.498																																					p.V794F	Melanoma(38;962 1762 15789)	.											.	TRPV1-23	0			c.G2380T						.						39	40	39					17																	3470249		1935	4136	6071	SO:0001583	missense	7442	exon16			GGGGGACCAGGGC	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2380G>T	17.37:g.3470249C>A	ENSP00000461007:p.Val794Phe	Somatic	76	2		WXS	Illumina GAIIx	Phase_I	87	36	NM_018727	0	0	0	0	0	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051190	0.75960	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.92752	-2.92;-2.92;-3.1;-2.86;-2.77	5.36	5.36	0.76844	.	0.262799	0.29707	N	0.011416	D	0.92857	0.7728	L	0.50333	1.59	0.45250	D	0.998258	P;D;P;P	0.56035	0.585;0.974;0.846;0.916	B;P;B;P	0.53861	0.187;0.736;0.284;0.584	D	0.93340	0.6709	10	0.87932	D	0	-11.8012	14.9629	0.71169	0.0:1.0:0.0:0.0	.	794;792;734;805	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	F	794;794;792;805;734	ENSP00000382661:V794F;ENSP00000382659:V794F;ENSP00000174621:V792F;ENSP00000409627:V805F;ENSP00000311692:V734F	ENSP00000174621:V792F	V	-	1	0	TRPV1	3416999	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.325000	0.52030	2.676000	0.91093	0.655000	0.94253	GTC	.		0.498	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		A	3470249	C	A	3470249	3	1	31	1	0	0	0	0	1	0	0	0	16643	507	18	3	143	3	TRPV1	17	3470249	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	369020	3470249	77724961	1895	7447											
GSG2	83903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3628702	3628702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacgctgtgagaagattggGgaaggggtgtttggcgaagt	18	4	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3628702G>T	ENST00000325418.4	+	1	1492	c.1473G>T	c.(1471-1473)ggG>ggT	p.G491G	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron|CTD-3195I5.3_ENST00000571741.1_RNA	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGAAGATTGGGGAAGGGGTGT	0.463																																					p.G491G		.											.	GSG2-297	0			c.G1473T						.						58	56	57					17																	3628702		2203	4300	6503	SO:0001819	synonymous_variant	83903	exon1			GATTGGGGAAGGG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1473G>T	17.37:g.3628702G>T		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	146	27	NM_031965	0	0	0	0	0	Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	CCDS11036.1																																																																																			.		0.463	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		T	3628702	G	T	3628702	2	4	31	1	0	0	0	0	0	0	0	1	6849	1219	43	3		3	GSG2	17	3628702	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	158453	3628702	77566508	1896	7448											
ITGAE	3682	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3655152	3655152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcagtatgcgtgccAaggagaaagaaccatcctgt	10	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3655152A>G	ENST00000263087.4	-	15	1783	c.1685T>C	c.(1684-1686)tTg>tCg	p.L562S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	562					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TATGCGTGCCAAGGAGAAAGA	0.572																																					p.L562S	NSCLC(182;635 2928 8995 38788)	.											.	ITGAE-161	0			c.T1685C						.						53	55	54					17																	3655152		2203	4300	6503	SO:0001583	missense	3682	exon15			CGTGCCAAGGAGA	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1685T>C	17.37:g.3655152A>G	ENSP00000263087:p.Leu562Ser	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	204	54	NM_002208	0	0	0	0	0	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826867	0.32329	.	.	ENSG00000083457	ENST00000263087	T	0.27256	1.68	3.89	3.89	0.44902	.	.	.	.	.	T	0.22044	0.0531	L	0.51914	1.62	0.23827	N	0.996734	B	0.24721	0.11	B	0.16722	0.016	T	0.13548	-1.0505	9	0.22706	T	0.39	.	9.4691	0.38831	1.0:0.0:0.0:0.0	.	562	P38570	ITAE_HUMAN	S	562	ENSP00000263087:L562S	ENSP00000263087:L562S	L	-	2	0	ITGAE	3601901	0.029000	0.19370	0.955000	0.39395	0.086000	0.17979	0.905000	0.28504	1.565000	0.49641	0.454000	0.30748	TTG	.		0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		G	3655152	A	G	3655152	3	3	31	1	0	0	0	0	1	0	0	0	7912	131	5	4	1922	4	ITGAE	17	3655152	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	26450	3655152	77540058	1897	7449											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3955316	3955316	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcaaagatcaaagtcaTcgcaaacattgcagttcatc	7	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3955316T>A	ENST00000381638.2	-	35	5673	c.5549A>T	c.(5548-5550)gAt>gTt	p.D1850V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1850							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCAAAGTCATCGCAAACATT	0.493																																					p.D1850V		.											.	ZZEF1-93	0			c.A5549T						.						145	118	127					17																	3955316		2203	4300	6503	SO:0001583	missense	23140	exon35			AAGTCATCGCAAA	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5549A>T	17.37:g.3955316T>A	ENSP00000371051:p.Asp1850Val	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	110	23	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669218	0.88348	.	.	ENSG00000074755	ENST00000381638	D	0.91792	-2.91	5.64	5.64	0.86602	Zinc finger, ZZ-type (4);	0.108901	0.64402	D	0.000008	D	0.90363	0.6984	L	0.31420	0.93	0.80722	D	1	P;P	0.37781	0.579;0.608	B;P	0.46049	0.281;0.502	D	0.91317	0.5079	10	0.87932	D	0	-10.2619	14.4331	0.67264	0.0:0.0:0.0:1.0	.	1850;1850	O43149-2;O43149	.;ZZEF1_HUMAN	V	1850	ENSP00000371051:D1850V	ENSP00000371051:D1850V	D	-	2	0	ZZEF1	3902065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.688000	0.84153	2.145000	0.66743	0.460000	0.39030	GAT	.		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3955316	T	A	3955316	3	1	31	1	0	0	0	0	1	0	0	0	18303	1435	50	5	3420	5	ZZEF1	17	3955316	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	300164	3955316	77239894	1898	7450											
ZZEF1	23140	hgsc.bcm.edu;bcgsc.ca	37	chr17	3959640	3959640	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttcactccattggCtgaaagaaggacataaagag	8	9	3	3	rs60052193		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3959640C>A	ENST00000381638.2	-	33	5290		c.e33-1		RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1								calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTCCATTGGCTGAAAGAAGG	0.433																																					.		.											.	ZZEF1-93	0			c.5166-1G>T						.						74	69	71					17																	3959640		2203	4300	6503	SO:0001630	splice_region_variant	23140	exon34			CATTGGCTGAAAG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5166-1G>T	17.37:g.3959640C>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	56	10	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Splice_Site	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135068	0.77662	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZZEF1	3906389	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.443000	0.80521	2.410000	0.81850	0.563000	0.77884	.	.		0.433	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	Intron	A	3959640	C	A	3959640	5	1	31	1	0	0	0	0	0	0	1	0	18303	811	28	3	3812	3	ZZEF1	17	3959640	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4324	3959640	77235570	1899	7451											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3973982	3973982	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaataaagttaccataTttttgcagcttctcatataa	4	8	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3973982T>A	ENST00000381638.2	-	26	4195	c.4071A>T	c.(4069-4071)aaA>aaT	p.K1357N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1357							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTTACCATATTTTTGCAGCT	0.338																																					p.K1357N		.											.	ZZEF1-93	0			c.A4071T						.						67	65	66					17																	3973982		2203	4300	6503	SO:0001583	missense	23140	exon26			ACCATATTTTTGC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4071A>T	17.37:g.3973982T>A	ENSP00000371051:p.Lys1357Asn	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	56	26	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744627	0.49151	.	.	ENSG00000074755	ENST00000381638	T	0.23147	1.92	5.96	3.65	0.41850	.	0.286977	0.39985	N	0.001209	T	0.23649	0.0572	L	0.54323	1.7	0.46981	D	0.999272	B	0.25007	0.116	B	0.21708	0.036	T	0.11567	-1.0582	10	0.72032	D	0.01	-17.3381	9.4782	0.38884	0.1065:0.0:0.2083:0.6852	.	1357	O43149	ZZEF1_HUMAN	N	1357	ENSP00000371051:K1357N	ENSP00000371051:K1357N	K	-	3	2	ZZEF1	3920731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.662000	0.46766	2.279000	0.76181	0.533000	0.62120	AAA	.		0.338	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3973982	T	A	3973982	3	1	31	1	0	0	0	0	1	0	0	0	18303	1490	52	5	4934	5	ZZEF1	17	3973982	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	14342	3973982	77221228	1900	7452											
SPNS3	201305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4351540	4351540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgagacacagggggagGgggccgtgggaggcttcagg	21	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4351540G>T	ENST00000355530.2	+	6	992	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	SPNS3_ENST00000333476.2_Missense_Mutation_p.G111W|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	238					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ACAGGGGGAGGGGGCCGTGGG	0.637																																					p.G238W		.											.	SPNS3-153	0			c.G712T						.						35	33	34					17																	4351540		2203	4300	6503	SO:0001583	missense	201305	exon6			GGGGAGGGGGCCG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.712G>T	17.37:g.4351540G>T	ENSP00000347721:p.Gly238Trp	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	98	42	NM_182538	0	0	0	0	0	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.434761	0.25813	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59906	0.23;0.23	4.75	-0.595	0.11660	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.306250	0.04498	N	0.380729	T	0.61714	0.2369	L	0.43152	1.355	0.09310	N	1	D;P	0.58620	0.983;0.886	P;P	0.58013	0.831;0.762	T	0.50432	-0.8829	10	0.66056	D	0.02	-0.2568	4.866	0.13609	0.4202:0.1493:0.4305:0.0	.	111;238	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	W	238;111	ENSP00000347721:G238W;ENSP00000333207:G111W	ENSP00000333207:G111W	G	+	1	0	SPNS3	4298289	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.107000	0.15375	-0.118000	0.11851	-0.969000	0.02612	GGG	.		0.637	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		T	4351540	G	T	4351540	3	4	31	1	0	0	0	0	1	0	0	0	15123	1232	43	3	734	3	SPNS3	17	4351540	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	377558	4351540	76843670	1901	7453											
MYBBP1A	10514	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	4453405	4453405	+	Frame_Shift_Del	DEL	C	C	-													gttgttggtgctgaagtcaaCcaaggagtccaggtctggct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4453405delC	ENST00000254718.4	-	9	1573	c.1267delG	c.(1267-1269)gttfs	p.V423fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V423fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	423	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						CTGAAGTCAACCAAGGAGTCC	0.567																																					p.V423fs		.											.	MYBBP1A-92	0			c.1267delG						.						83	92	89					17																	4453405		2203	4300	6503	SO:0001589	frameshift_variant	10514	exon9			AGTCAACCAAGGA	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.1267delG	17.37:g.4453405delC	ENSP00000254718:p.Val423fs	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	163	41	NM_014520	0	0	0	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Del	DEL	ENST00000254718.4	37	CCDS11046.1																																																																																			.		0.567	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		-	4453405	C	-	4453405	7	5	31	1	0	1	0	1	0	0	0	0	10046	507	18	0	2831	0	MYBBP1A	17	4453405	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	101865	4453405	76741805	1902	7454	61	2									
MYBBP1A	10514	bcgsc.ca	37	chr17	4453406	4453406	+	Missense_Mutation	SNP	C	C	A													ttgttggtgctgaagtcaacCaaggagtccaggtctggctg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4453406C>A	ENST00000254718.4	-	9	1572	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L422F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	422	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						TGAAGTCAACCAAGGAGTCCA	0.572																																					p.L422F		.											.	MYBBP1A-92	0			c.G1266T						.						82	91	88					17																	4453406		2203	4300	6503	SO:0001583	missense	10514	exon9			GTCAACCAAGGAG	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.1266G>T	17.37:g.4453406C>A	ENSP00000254718:p.Leu422Phe	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	161	41	NM_014520	0	0	0	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490227	0.64074	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52983	0.64;0.64	5.03	2.9	0.33743	Armadillo-type fold (1);	0.421348	0.23722	N	0.045208	T	0.55893	0.1949	L	0.60455	1.87	0.28080	N	0.932215	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.46938	-0.9155	10	0.14252	T	0.57	-16.501	7.07	0.25173	0.3252:0.4962:0.1787:0.0	.	422;422	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	F	422	ENSP00000370968:L422F;ENSP00000254718:L422F	ENSP00000254718:L422F	L	-	3	2	MYBBP1A	4400155	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.617000	0.24359	1.316000	0.45131	0.655000	0.94253	TTG	.		0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		A	4453406	C	A	4453406	3	1	31	1	0	0	0	0	1	0	0	0	10046	593	21	3	2832	3	MYBBP1A	17	4453406	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1	4453406	76741804	1903	7455	61	2									
KIF1C	10749	ucsc.edu;bcgsc.ca	37	chr17	4926821	4926821	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggccccgcctgaaggatCagaggcagcagaggaggcag	17	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4926821C>A	ENST00000320785.5	+	23	3044	c.2687C>A	c.(2686-2688)tCa>tAa	p.S896*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	896					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCTGAAGGATCAGAGGCAGCA	0.632																																					p.S896X	Melanoma(96;1023 1447 10250 19259 33730)	.											.	KIF1C-92	0			c.C2687A						.						35	36	36					17																	4926821		2203	4300	6503	SO:0001587	stop_gained	10749	exon23			AAGGATCAGAGGC	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2687C>A	17.37:g.4926821C>A	ENSP00000320821:p.Ser896*	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	230	51	NM_006612	0	0	0	0	0	D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	40	8.159245	0.98683	.	.	ENSG00000129250	ENST00000320785	.	.	.	4.89	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	9.9836	0.41828	0.0:0.8925:0.0:0.1075	.	.	.	.	X	896	.	ENSP00000320821:S896X	S	+	2	0	KIF1C	4867545	0.004000	0.15560	0.120000	0.21714	0.798000	0.45092	1.951000	0.40333	2.536000	0.85505	0.563000	0.77884	TCA	.		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			A	4926821	C	A	4926821	4	1	31	1	0	0	0	0	0	1	0	0	8312	838	29	3	2769	3	KIF1C	17	4926821	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	473415	4926821	76268389	1904	7456											
NLRP1	22861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	5436275	5436275	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaggcacgcacaagagttCcaccggtactacctctgggg	12	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:5436275C>A	ENST00000572272.1	-	11	3162	c.3163G>T	c.(3163-3165)Gaa>Taa	p.E1055*	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.E1055*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.E1025*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.E1055*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.E1025*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.E1059*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1055					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)				CACAAGAGTTCCACCGGTACT	0.617																																					p.E1059X		.											.	NLRP1-274	0			c.G3175T						.						88	77	81					17																	5436275		2203	4300	6503	SO:0001587	stop_gained	22861	exon11			AGAGTTCCACCGG	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.3163G>T	17.37:g.5436275C>A	ENSP00000460475:p.Glu1055*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	109	41	NM_001033053	0	0	0	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	41	8.573944	0.98868	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	.	.	.	3.53	-6.97	0.01616	.	1.831510	0.03373	N	0.199215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6279	0.22841	0.0:0.197:0.2421:0.561	.	.	.	.	X	1059;1059;1055;1025;1055;321	.	ENSP00000262467:E1059X	E	-	1	0	NLRP1	5376999	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.934000	0.01552	-1.637000	0.01531	0.555000	0.69702	GAA	.		0.617	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5436275	C	A	5436275	4	1	31	1	0	0	0	0	0	1	0	0	10510	864	30	3	1349	3	NLRP1	17	5436275	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	509454	5436275	75758935	1905	7457											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.V173L	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	c.G517T	GRCh37	CM070299	TP53	M		.						51	51	51					17																	7578413		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;	GCCTCACAACCTC	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.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	176	72	NM_000546	0	0	0	0	0	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	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	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	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	.		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578413	C	A	7578413	3	1	31	1	0	0	0	0	1	0	0	0	16429	478	17	3	781	3	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2142138	7578413	73616797	1906	7458											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	15	6	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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.K132N	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	c.G396C						.						47	48	48					17																	7578534		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;	AAACATCTTGTTG	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.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	89	18	NM_000546	0	0	0	0	0	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	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	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	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	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	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578534	C	G	7578534	3	3	31	1	0	0	0	0	1	0	0	0	16429	912	32	3	902	3	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	121	7578534	73616676	1907	7459											
PER1	5187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8053364	8053364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggcccttgccccggcgctCtggcggcagtcgaagcttga	15	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8053364C>G	ENST00000317276.4	-	4	691	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	PER1_ENST00000354903.5_Missense_Mutation_p.E136Q|PER1_ENST00000581082.1_Missense_Mutation_p.E152Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	152					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						CCCCGGCGCTCTGGCGGCAGT	0.632			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																													p.E152Q		.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	PER1-723	0			c.G454C						.						101	113	109					17																	8053364		2202	4300	6502	SO:0001583	missense	5187	exon4			GGCGCTCTGGCGG	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.454G>C	17.37:g.8053364C>G	ENSP00000314420:p.Glu152Gln	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	99	28	NM_002616	0	0	0	0	0	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845107	0.71603	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.44482	2.27;0.92	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.64404	1.975	0.54753	D	0.999985	D;D;B	0.71674	0.998;0.992;0.31	D;P;B	0.80764	0.994;0.828;0.175	T	0.64024	-0.6504	10	0.66056	D	0.02	-23.5997	15.6785	0.77349	0.0:1.0:0.0:0.0	.	152;136;152	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	152;136	ENSP00000314420:E152Q;ENSP00000346979:E136Q	ENSP00000314420:E152Q	E	-	1	0	PER1	7994089	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.475000	0.81041	2.573000	0.86826	0.563000	0.77884	GAG	.		0.632	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			G	8053364	C	G	8053364	3	3	31	1	0	0	0	0	1	0	0	0	11768	922	32	3	3498	3	PER1	17	8053364	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	474830	8053364	73141846	1908	7460											
AURKB	9212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8110524	8110524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatttcgatctctctgCgcagctgatgctccacgccc	9	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8110524C>T	ENST00000585124.1	-	5	461	c.368G>A	c.(367-369)cGc>cAc	p.R123H	AURKB_ENST00000534871.1_Missense_Mutation_p.R82H|AURKB_ENST00000316199.6_Missense_Mutation_p.R124H|AURKB_ENST00000578549.1_Intron|AURKB_ENST00000535053.1_Missense_Mutation_p.R124H	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R123H(1)		breast(1)|central_nervous_system(1)|lung(2)	4						GATCTCTCTGCGCAGCTGATG	0.582																																					p.R123H	NSCLC(134;1161 2470 43664 51568)	.											.	AURKB-1508	1	Substitution - Missense(1)	large_intestine(1)	c.G368A						.						64	61	62					17																	8110524		2203	4300	6503	SO:0001583	missense	9212	exon5			TCTCTGCGCAGCT	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.368G>A	17.37:g.8110524C>T	ENSP00000463999:p.Arg123His	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	93	24	NM_004217	0	0	0	0	0	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385992	0.61956	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.68479	-0.33;-0.33	5.19	5.19	0.71726	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	0.73273	0.3566	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.75915	-0.3149	10	0.87932	D	0	-18.3729	16.2584	0.82528	0.0:1.0:0.0:0.0	.	123;123	C7G533;Q96GD4	.;AURKB_HUMAN	H	123;82;124	ENSP00000443869:R82H;ENSP00000445866:R124H	ENSP00000313950:R123H	R	-	2	0	AURKB	8051249	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.486000	0.81215	2.711000	0.92665	0.655000	0.94253	CGC	.		0.582	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		T	8110524	C	T	8110524	3	4	31	1	0	0	0	0	1	0	0	0	1224	768	27	1	686	1	AURKB	17	8110524	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	57160	8110524	73084686	1909	7461											
PIK3R6	146850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8741937	8741937	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcttaccgggatctcGctcgaccttcttgtgcaggg	13	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8741937G>T	ENST00000311434.9	-	4	372	c.133C>A	c.(133-135)Cga>Aga	p.R45R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGGATCTCGCTCGACCTTC	0.592																																					.		.											.	.	0			.						.						40	42	41					17																	8741937		1953	4116	6069	SO:0001819	synonymous_variant	146850	.			GATCTCGCTCGAC	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.133C>A	17.37:g.8741937G>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	75	29	.	0	0	0	0	0	Q658R3	Silent	SNP	ENST00000311434.9	37																																																																																				.		0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		T	8741937	G	T	8741937	2	4	31	1	0	0	0	0	0	0	0	1	11962	1095	38	2		2	PIK3R6	17	8741937	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	631413	8741937	72453273	1910	7462											
USP43	124739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9631601	9631601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgaaagaggtccagccgGggtgccctgtccctcggctc	13	14	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:9631601G>T	ENST00000285199.7	+	15	2762	c.2666G>T	c.(2665-2667)gGg>gTg	p.G889V	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.G884V	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	889					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGTCCAGCCGGGGTGCCCTGT	0.592																																					p.G889V		.											.	USP43-637	0			c.G2666T						.						25	28	27					17																	9631601		1983	4148	6131	SO:0001583	missense	124739	exon15			CAGCCGGGGTGCC	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2666G>T	17.37:g.9631601G>T	ENSP00000285199:p.Gly889Val	Somatic	252	0		WXS	Illumina GAIIx	Phase_I	266	112	NM_153210	0	0	0	0	0	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411415	0.25465	.	.	ENSG00000154914	ENST00000285199	T	0.10763	2.84	5.28	-10.6	0.00265	.	48.024300	0.00166	N	0.000000	T	0.07638	0.0192	L	0.47716	1.5	0.09310	N	0.999999	B;P;B;B	0.34724	0.183;0.465;0.183;0.279	B;B;B;B	0.31101	0.026;0.124;0.026;0.058	T	0.09015	-1.0694	10	0.17369	T	0.5	2.8807	8.4635	0.32942	0.2042:0.5947:0.1158:0.0854	.	884;578;889;401	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	889	ENSP00000285199:G889V	ENSP00000285199:G889V	G	+	2	0	USP43	9572326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.193000	0.09573	-1.797000	0.01252	-0.878000	0.02970	GGG	.		0.592	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		T	9631601	G	T	9631601	3	4	31	1	0	0	0	0	1	0	0	0	17123	1232	43	3	2724	3	USP43	17	9631601	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	889664	9631601	71563609	1911	7463											
GLP2R	9340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9792935	9792935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaccatgcacgctggccCcggggcagcagcctgtccga	14	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:9792935C>A	ENST00000262441.5	+	13	2088	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	GLP2R_ENST00000574745.1_Silent_p.P345P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	525					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CACGCTGGCCCCGGGGCAGCA	0.622																																					p.P525P		.											.	GLP2R-524	0			c.C1575A						.						27	25	26					17																	9792935		2203	4300	6503	SO:0001819	synonymous_variant	9340	exon13			CTGGCCCCGGGGC	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1575C>A	17.37:g.9792935C>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	101	42	NM_004246	0	0	0	0	0	Q4VAT3	Silent	SNP	ENST00000262441.5	37	CCDS11150.1																																																																																			.		0.622	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9792935	C	A	9792935	2	1	31	1	0	0	0	0	0	0	0	1	6479	610	22	3		3	GLP2R	17	9792935	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	161334	9792935	71402275	1912	7464											
MYH13	8735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10227550	10227550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatgagtccttcacacCgttcctcagcgtccatcaga	7	13	3	3	rs572952027		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10227550C>A	ENST00000418404.3	-	22	2886	c.2723G>T	c.(2722-2724)cGg>cTg	p.R908L	MYH13_ENST00000252172.4_Missense_Mutation_p.R908L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	908					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						TCCTTCACACCGTTCCTCAGC	0.423																																					p.R908L		.											.	MYH13-6	0			c.G2723T						.						130	121	124					17																	10227550		1966	4160	6126	SO:0001583	missense	8735	exon23			TCACACCGTTCCT	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.2723G>T	17.37:g.10227550C>A	ENSP00000404570:p.Arg908Leu	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	93	21	NM_003802	0	0	0	0	0	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798241	0.90538	.	.	ENSG00000006788	ENST00000252172	D	0.94330	-3.4	4.37	4.37	0.52481	.	.	.	.	.	D	0.97269	0.9107	M	0.91406	3.205	0.46185	D	0.998912	D	0.76494	0.999	D	0.74674	0.984	D	0.98012	1.0366	9	0.62326	D	0.03	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	908	Q9UKX3	MYH13_HUMAN	L	908	ENSP00000252172:R908L	ENSP00000252172:R908L	R	-	2	0	MYH13	10168275	1.000000	0.71417	0.252000	0.24328	0.975000	0.68041	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	CGG	.		0.423	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	10227550	C	A	10227550	3	1	31	1	0	0	0	0	1	0	0	0	10070	652	23	2	3169	2	MYH13	17	10227550	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	434615	10227550	70967660	1913	7465											
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	10293878	10293878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctccagctcatgctGgagtttgcggaatttagata	11	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10293878G>T	ENST00000403437.2	-	40	5801	c.5707C>A	c.(5707-5709)Cag>Aag	p.Q1903K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1903					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTCATGCTGGAGTTTGCGG	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.Q1903K		.											.	MYH8-101	0			c.C5707A						.						105	110	108					17																	10293878		2203	4300	6503	SO:0001583	missense	4626	exon40	Familial Cancer Database	Carney Complex Variant	CATGCTGGAGTTT		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.5707C>A	17.37:g.10293878G>T	ENSP00000384330:p.Gln1903Lys	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	66	13	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026345	0.75390	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39687	U	0.001293	D	0.91848	0.7420	H	0.94964	3.605	0.58432	D	0.999998	D	0.56287	0.975	P	0.59546	0.859	D	0.93863	0.7155	10	0.87932	D	0	.	18.8299	0.92133	0.0:0.0:1.0:0.0	.	1903	P13535	MYH8_HUMAN	K	1903	ENSP00000384330:Q1903K	ENSP00000252173:Q1903K	Q	-	1	0	MYH8	10234603	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	9.598000	0.98277	2.677000	0.91161	0.650000	0.86243	CAG	.		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10293878	G	T	10293878	3	4	31	1	0	0	0	0	1	0	0	0	10079	1357	47	3	110	3	MYH8	17	10293878	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	66328	10293878	70901332	1914	7466											
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	10303798	10303798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccagcttctgtttgaccCgctgcaagttgtcaatctgc	8	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10303798C>A	ENST00000403437.2	-	27	3738	c.3644G>T	c.(3643-3645)cGg>cTg	p.R1215L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1215					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGTTTGACCCGCTGCAAGTT	0.537									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1215L		.											.	MYH8-101	0			c.G3644T						.						126	112	117					17																	10303798		2203	4300	6503	SO:0001583	missense	4626	exon27	Familial Cancer Database	Carney Complex Variant	TTGACCCGCTGCA		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.3644G>T	17.37:g.10303798C>A	ENSP00000384330:p.Arg1215Leu	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	55	24	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813855	0.90790	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80566	-1.39	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.40302	U	0.001128	D	0.93090	0.7800	H	0.95645	3.7	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	D	0.94594	0.7790	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1215	P13535	MYH8_HUMAN	L	1215	ENSP00000384330:R1215L	ENSP00000252173:R1215L	R	-	2	0	MYH8	10244523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.443000	0.80521	2.785000	0.95823	0.655000	0.94253	CGG	.		0.537	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10303798	C	A	10303798	3	1	31	1	0	0	0	0	1	0	0	0	10079	652	23	2	2225	2	MYH8	17	10303798	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9920	10303798	70891412	1915	7467											
MYH8	4626	bcgsc.ca	37	chr17	10304060	10304060	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggctcgggacgccctctCtgcctcgatttcttccccca	8	17	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10304060C>A	ENST00000403437.2	-	27	3476	c.3382G>T	c.(3382-3384)Gag>Tag	p.E1128*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1128					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACGCCCTCTCTGCCTCGATT	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E1128X		.											.	MYH8-101	0			c.G3382T						.						44	49	47					17																	10304060		2202	4300	6502	SO:0001587	stop_gained	4626	exon27	Familial Cancer Database	Carney Complex Variant	CCCTCTCTGCCTC		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.3382G>T	17.37:g.10304060C>A	ENSP00000384330:p.Glu1128*	Somatic	33	1		WXS	Illumina GAIIx	Phase_I	30	17	NM_002472	0	0	0	0	0	Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	40	8.531651	0.98852	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.38	5.38	0.77491	.	0.000000	0.41938	U	0.000786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3244	0.94256	0.0:1.0:0.0:0.0	.	.	.	.	X	1128	.	ENSP00000252173:E1128X	E	-	1	0	MYH8	10244785	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.531000	0.81973	2.794000	0.96219	0.655000	0.94253	GAG	.		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10304060	C	A	10304060	4	1	31	1	0	0	0	0	0	1	0	0	10079	922	32	3	2487	3	MYH8	17	10304060	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	262	10304060	70891150	1916	7468											
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10353829	10353829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgtacttggtcctccaCtgggcaacctcactgttggc	10	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10353829C>A	ENST00000255381.2	-	30	4232	c.4122G>T	c.(4120-4122)caG>caT	p.Q1374H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1374					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTCCTCCACTGGGCAACCT	0.567																																					p.Q1374H		.											.	MYH4-102	0			c.G4122T						.						183	158	167					17																	10353829		2203	4300	6503	SO:0001583	missense	4622	exon30			CCTCCACTGGGCA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4122G>T	17.37:g.10353829C>A	ENSP00000255381:p.Gln1374His	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	131	20	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189271	0.78789	.	.	ENSG00000141048	ENST00000255381	T	0.80123	-1.34	5.67	2.58	0.30949	Myosin tail (1);	0.000000	0.35585	U	0.003106	D	0.89146	0.6632	M	0.85373	2.75	0.46927	D	0.999251	D	0.76494	0.999	D	0.76071	0.987	D	0.89864	0.4018	10	0.72032	D	0.01	.	12.038	0.53435	0.0:0.803:0.0:0.197	.	1374	Q9Y623	MYH4_HUMAN	H	1374	ENSP00000255381:Q1374H	ENSP00000255381:Q1374H	Q	-	3	2	MYH4	10294554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.150000	0.42254	0.883000	0.36040	0.650000	0.86243	CAG	.		0.567	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10353829	C	A	10353829	3	1	31	1	0	0	0	0	1	0	0	0	10075	564	20	3	1741	3	MYH4	17	10353829	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49769	10353829	70841381	1917	7469											
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10356511	10356511	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttttagctttggtcagGgtgttgactttgtcctcctc	11	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10356511G>T	ENST00000255381.2	-	24	3179	c.3069C>A	c.(3067-3069)acC>acA	p.T1023T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1023					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTGGTCAGGGTGTTGACTT	0.458																																					p.T1023T		.											.	MYH4-102	0			c.C3069A						.						337	301	313					17																	10356511		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon24			GGTCAGGGTGTTG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3069C>A	17.37:g.10356511G>T		Somatic	224	0		WXS	Illumina GAIIx	Phase_I	162	75	NM_017533	0	0	0	0	0		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																			.		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10356511	G	T	10356511	2	4	31	1	0	0	0	0	0	0	0	1	10075	1219	43	3		3	MYH4	17	10356511	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2682	10356511	70838699	1918	7470											
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10357111	10357111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcatcctcagctcttTcagttacctctttgattttg	4	13	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10357111T>C	ENST00000255381.2	-	23	2893	c.2783A>G	c.(2782-2784)gAa>gGa	p.E928G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	928					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCAGCTCTTTCAGTTACCTC	0.433																																					p.E928G		.											.	MYH4-102	0			c.A2783G						.						360	332	341					17																	10357111		2203	4300	6503	SO:0001583	missense	4622	exon23			GCTCTTTCAGTTA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2783A>G	17.37:g.10357111T>C	ENSP00000255381:p.Glu928Gly	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	193	39	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269062	0.59540	.	.	ENSG00000141048	ENST00000255381	D	0.95137	-3.62	5.19	5.19	0.71726	.	0.000000	0.38058	U	0.001824	D	0.97632	0.9224	M	0.93808	3.46	0.80722	D	1	D	0.69078	0.997	P	0.62382	0.901	D	0.98727	1.0711	10	0.87932	D	0	.	15.339	0.74282	0.0:0.0:0.0:1.0	.	928	Q9Y623	MYH4_HUMAN	G	928	ENSP00000255381:E928G	ENSP00000255381:E928G	E	-	2	0	MYH4	10297836	1.000000	0.71417	0.959000	0.39883	0.269000	0.26545	7.908000	0.87438	2.089000	0.63090	0.533000	0.62120	GAA	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10357111	T	C	10357111	3	2	31	1	0	0	0	0	1	0	0	0	10075	1783	62	4	3108	4	MYH4	17	10357111	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	600	10357111	70838099	1919	7471											
MYH4	4622	ucsc.edu;bcgsc.ca	37	chr17	10363404	10363404	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggctttggccagagcaccCactgcattgtacaccttcaa	8	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10363404C>G	ENST00000255381.2	-	14	1391	c.1281G>C	c.(1279-1281)gtG>gtC	p.V427V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	427	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCAGAGCACCCACTGCATTGT	0.458																																					p.V427V		.											.	MYH4-102	0			c.G1281C						.						192	176	181					17																	10363404		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon14			AGCACCCACTGCA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1281G>C	17.37:g.10363404C>G		Somatic	217	3		WXS	Illumina GAIIx	Phase_I	178	79	NM_017533	0	0	0	0	0		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																			.		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		G	10363404	C	G	10363404	2	3	31	1	0	0	0	0	0	0	0	1	10075	581	21	3		3	MYH4	17	10363404	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6293	10363404	70831806	1920	7472											
MYH1	4619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10402002	10402002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcatatttggtcctccaCtgggcaacctcactgttggc	9	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10402002C>T	ENST00000226207.5	-	30	4216	c.4122G>A	c.(4120-4122)caG>caA	p.Q1374Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1374					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						TGGTCCTCCACTGGGCAACCT	0.522																																					p.Q1374Q		.											.	MYH1-171	0			c.G4122A						.						165	143	151					17																	10402002		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon30			CCTCCACTGGGCA		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.4122G>A	17.37:g.10402002C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	102	37	NM_005963	0	0	0	0	0	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			.		0.522	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10402002	C	T	10402002	2	4	31	1	0	0	0	0	0	0	0	1	10067	564	20	3		3	MYH1	17	10402002	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	38598	10402002	70793208	1921	7473											
MYH1	4619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10408289	10408289	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgtctctgcacttttgagGaggggtttgatcttgaaata	11	6	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10408289G>T	ENST00000226207.5	-	22	2623	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843					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						CACTTTTGAGGAGGGGTTTGA	0.463																																					p.L843L		.											.	MYH1-171	0			c.C2529A						.						131	122	125					17																	10408289		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon22			TTTGAGGAGGGGT		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.2529C>A	17.37:g.10408289G>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	83	28	NM_005963	0	0	0	0	0	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			.		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10408289	G	T	10408289	2	4	31	1	0	0	0	0	0	0	0	1	10067	1161	41	3		3	MYH1	17	10408289	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6287	10408289	70786921	1922	7474											
MYH2	4620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	10428845	10428845	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggcattctttatcttgaacAgctcagtgccaagggaacgg	11	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10428845A>T	ENST00000245503.5	-	32	4844	c.4460T>A	c.(4459-4461)cTg>cAg	p.L1487Q	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487Q|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					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						TATCTTGAACAGCTCAGTGCC	0.453																																					p.L1487Q		.											.	MYH2-194	0			c.T4460A						.						75	79	78					17																	10428845		2203	4300	6503	SO:0001583	missense	4620	exon32			TTGAACAGCTCAG		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.4460T>A	17.37:g.10428845A>T	ENSP00000245503:p.Leu1487Gln	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	57	10	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487935	0.84854	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85339	-1.97;-1.97	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.32314	U	0.006279	D	0.94735	0.8301	H	0.96398	3.815	0.53688	D	0.99997	P	0.47302	0.893	D	0.67103	0.949	D	0.96155	0.9111	10	0.87932	D	0	.	15.2299	0.73378	1.0:0.0:0.0:0.0	.	1487	Q9UKX2	MYH2_HUMAN	Q	1487	ENSP00000245503:L1487Q;ENSP00000380367:L1487Q	ENSP00000245503:L1487Q	L	-	2	0	MYH2	10369570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.113000	0.94321	2.190000	0.69967	0.482000	0.46254	CTG	.		0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10428845	A	T	10428845	3	4	31	1	0	0	0	0	1	0	0	0	10073	188	7	5	1401	5	MYH2	17	10428845	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	20556	10428845	70766365	1923	7475											
MYH3	4621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10535908	10535908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcttcttcttgagcCggatggcttcattcctgctc	7	15	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10535908C>A	ENST00000583535.1	-	34	4928	c.4841G>T	c.(4840-4842)cGg>cTg	p.R1614L	MYH3_ENST00000226209.7_Missense_Mutation_p.R1614L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1614					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTCTTGAGCCGGATGGCTTC	0.582																																					p.R1614L		.											.	MYH3-95	0			c.G4841T						.						228	224	225					17																	10535908		2203	4300	6503	SO:0001583	missense	4621	exon34			TTGAGCCGGATGG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4841G>T	17.37:g.10535908C>A	ENSP00000464317:p.Arg1614Leu	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	60	27	NM_002470	0	0	0	0	0	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542818	0.96474	.	.	ENSG00000109063	ENST00000226209	D	0.83755	-1.76	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.92071	0.7487	M	0.83852	2.665	0.47621	D	0.999472	P	0.44877	0.845	D	0.63033	0.91	D	0.91892	0.5524	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1614	P11055	MYH3_HUMAN	L	1614	ENSP00000226209:R1614L	ENSP00000226209:R1614L	R	-	2	0	MYH3	10476633	0.499000	0.26083	0.976000	0.42696	0.935000	0.57460	4.950000	0.63603	2.885000	0.99019	0.655000	0.94253	CGG	.		0.582	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10535908	C	A	10535908	3	1	31	1	0	0	0	0	1	0	0	0	10074	652	23	2	1013	2	MYH3	17	10535908	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	107063	10535908	70659302	1924	7476											
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	11592948	11592948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgagatccagcagatggaatCcactatggcctccatttctg	9	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11592948C>A	ENST00000262442.4	+	20	3877	c.3809C>A	c.(3808-3810)tCc>tAc	p.S1270Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1270Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S1270*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGATGGAATCCACTATGGCC	0.488																																					p.S1270Y		.											.	DNAH9-168	1	Substitution - Nonsense(1)	lung(1)	c.C3809A						.						123	114	117					17																	11592948		2203	4300	6503	SO:0001583	missense	1770	exon20			TGGAATCCACTAT	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.3809C>A	17.37:g.11592948C>A	ENSP00000262442:p.Ser1270Tyr	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	82	31	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.23754	1.89;1.89	5.6	4.64	0.57946	.	0.845877	0.09908	N	0.740133	T	0.35624	0.0938	M	0.68952	2.095	0.47659	D	0.999488	P	0.47106	0.89	P	0.45753	0.492	T	0.10590	-1.0623	10	0.66056	D	0.02	.	11.0738	0.48019	0.0:0.8051:0.0:0.1949	.	1270	Q9NYC9	DYH9_HUMAN	Y	1270	ENSP00000262442:S1270Y;ENSP00000414874:S1270Y	ENSP00000262442:S1270Y	S	+	2	0	DNAH9	11533673	0.797000	0.28877	0.999000	0.59377	0.955000	0.61496	1.575000	0.36493	1.379000	0.46325	0.563000	0.77884	TCC	.		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11592948	C	A	11592948	3	1	31	1	0	0	0	0	1	0	0	0	4622	855	30	3	3887	3	DNAH9	17	11592948	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1057040	11592948	69602262	1925	7477											
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	11725237	11725237	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctccattttttcccagGggagatcccagatctctact	8	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11725237G>C	ENST00000262442.4	+	46	8776	c.8708G>C	c.(8707-8709)gGg>gCg	p.G2903A	DNAH9_ENST00000454412.2_Splice_Site_p.G2903A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2903	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTTCCCAGGGGAGATCCCA	0.453																																					p.G2903A		.											.	DNAH9-168	0			c.G8708C						.						75	69	71					17																	11725237		2203	4300	6503	SO:0001630	splice_region_variant	1770	exon46			TCCCAGGGGAGAT	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.8708-1G>C	17.37:g.11725237G>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	75	21	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843198	0.51057	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.59638	0.25;0.25	4.36	3.38	0.38709	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.140397	0.47852	D	0.000208	T	0.80048	0.4552	M	0.94063	3.49	0.80722	D	1	B	0.33964	0.434	P	0.53954	0.738	T	0.81529	-0.0891	9	.	.	.	.	14.2435	0.65973	0.0:0.1505:0.8495:0.0	.	2903	Q9NYC9	DYH9_HUMAN	A	2903;2903;1485	ENSP00000262442:G2903A;ENSP00000414874:G2903A	.	G	+	2	0	DNAH9	11665962	1.000000	0.71417	0.993000	0.49108	0.281000	0.26958	6.483000	0.73617	0.827000	0.34685	-0.481000	0.04817	GGG	.		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	C	11725237	G	C	11725237	5	2	31	1	0	0	0	0	0	0	1	0	4622	1246	43	3	8890	3	DNAH9	17	11725237	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	132289	11725237	69469973	1926	7478											
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	11738038	11738038	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcagacaaactgattcaggtCgtgggtgtggagactgacaa	14	7	1	4	rs532161159	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11738038C>A	ENST00000262442.4	+	49	9398	c.9330C>A	c.(9328-9330)gtC>gtA	p.V3110V	DNAH9_ENST00000454412.2_Silent_p.V3110V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3110	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		TGATTCAGGTCGTGGGTGTGG	0.498																																					p.V3110V		.											.	DNAH9-168	0			c.C9330A						.						115	90	99					17																	11738038		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon49			TCAGGTCGTGGGT	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.9330C>A	17.37:g.11738038C>A		Somatic	233	0		WXS	Illumina GAIIx	Phase_I	267	46	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			.		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11738038	C	A	11738038	2	1	31	1	0	0	0	0	0	0	0	1	4622	871	31	2		2	DNAH9	17	11738038	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	12801	11738038	69457172	1927	7479											
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	11772530	11772530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaaatgtcagcaagaagCcgaagtgaccgcagtcacca	9	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11772530C>A	ENST00000262442.4	+	51	10081	c.10013C>A	c.(10012-10014)gCc>gAc	p.A3338D	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3338D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3338	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CAGCAAGAAGCCGAAGTGACC	0.488																																					p.A3338D		.											.	DNAH9-168	0			c.C10013A						.						109	97	101					17																	11772530		2203	4300	6503	SO:0001583	missense	1770	exon51			AAGAAGCCGAAGT	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.10013C>A	17.37:g.11772530C>A	ENSP00000262442:p.Ala3338Asp	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061459	0.76187	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80653	-1.4;-1.4	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	H	0.97707	4.06	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95792	0.8825	10	0.87932	D	0	.	17.8373	0.88701	0.0:1.0:0.0:0.0	.	3338	Q9NYC9	DYH9_HUMAN	D	3338;3338;1920	ENSP00000262442:A3338D;ENSP00000414874:A3338D	ENSP00000262442:A3338D	A	+	2	0	DNAH9	11713255	1.000000	0.71417	0.977000	0.42913	0.707000	0.40811	5.532000	0.67154	2.510000	0.84645	0.643000	0.83706	GCC	.		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11772530	C	A	11772530	3	1	31	1	0	0	0	0	1	0	0	0	4622	739	26	3	10215	3	DNAH9	17	11772530	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	34492	11772530	69422680	1928	7480											
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	12656026	12656026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggtccctgccggacaCcttcaatgatgcctccccct	9	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:12656026C>A	ENST00000343344.4	+	10	1421	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	AC005358.1_ENST00000609971.1_Missense_Mutation_p.T378N|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.T474N			Q8IZQ8	MYCD_HUMAN	myocardin	474	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGCCGGACACCTTCAATGAT	0.637																																					p.T474N		.											.	MYOCD-93	0			c.C1421A						.						70	66	68					17																	12656026		2203	4300	6503	SO:0001583	missense	93649	exon10			CGGACACCTTCAA	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1421C>A	17.37:g.12656026C>A	ENSP00000341835:p.Thr474Asn	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	137	30	NM_001146312	0	0	0	0	0	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596796	0.46318	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.50277	0.79;0.75	5.66	5.66	0.87406	.	0.142330	0.64402	D	0.000005	T	0.63283	0.2498	M	0.79693	2.465	0.50039	D	0.999844	B;P;B;B	0.47034	0.258;0.889;0.374;0.258	B;P;B;B	0.52646	0.127;0.705;0.359;0.196	T	0.66344	-0.5947	10	0.54805	T	0.06	-10.5553	14.7572	0.69576	0.0:0.8546:0.1454:0.0	.	193;378;474;474	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	N	193;474;474;378;179	ENSP00000341835:T474N;ENSP00000400148:T179N	ENSP00000341835:T474N	T	+	2	0	MYOCD	12596751	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.229000	0.58625	2.672000	0.90937	0.591000	0.81541	ACC	.		0.637	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12656026	C	A	12656026	3	1	31	1	0	0	0	0	1	0	0	0	10125	507	18	3	1459	3	MYOCD	17	12656026	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	883496	12656026	68539184	1929	7481											
HS3ST3A1	9955	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	13504387	13504387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaagaacttccggaagatGctgcgggacagcggctcggc	15	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:13504387G>T	ENST00000284110.1	-	1	857	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	20					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCGGAAGATGCTGCGGGACA	0.692																																					p.S20R		.											.	HS3ST3A1-515	0			c.C60A						.						39	35	37					17																	13504387		2197	4299	6496	SO:0001583	missense	9955	exon1			GAAGATGCTGCGG	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.60C>A	17.37:g.13504387G>T	ENSP00000284110:p.Ser20Arg	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	166	42	NM_006042	0	0	0	0	0	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288228	0.40494	.	.	ENSG00000153976	ENST00000284110	T	0.46063	0.88	2.79	1.78	0.24846	.	0.524120	0.15313	U	0.268996	T	0.23572	0.0570	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13072	-1.0523	10	0.02654	T	1	.	9.7302	0.40357	0.1148:0.0:0.8852:0.0	.	20	Q9Y663	HS3SA_HUMAN	R	20	ENSP00000284110:S20R	ENSP00000284110:S20R	S	-	3	2	HS3ST3A1	13445112	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.137000	0.64789	0.693000	0.31634	0.563000	0.77884	AGC	.		0.692	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		T	13504387	G	T	13504387	3	4	31	1	0	0	0	0	1	0	0	0	7392	1310	46	3	1168	3	HS3ST3A1	17	13504387	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	848361	13504387	67690823	1930	7482											
TBC1D26	353149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	15638662	15638662	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatgactttgtcttgcagGatggagatggatggggaccc	17	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:15638662G>A	ENST00000437605.2	+	0	250				ZNF286A_ENST00000593105.1_3'UTR|ZNF286A_ENST00000413242.2_Intron|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_De_novo_Start_InFrame	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26								Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		TGTCTTGCAGGATGGAGATGG	0.552																																					.		.											.	TBC1D26-90	0			.						.						138	143	141					17																	15638662		1999	4166	6165			353149	.			TTGCAGGATGGAG		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071		17.37:g.15638662G>A		Somatic	264	0		WXS	Illumina GAIIx	Phase_I	258	63	.	0	0	0	0	0	A8K929|Q4G172	Splice_Site	SNP	ENST00000437605.2	37	CCDS42265.1																																																																																			.		0.552	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		A	15638662	G	A	15638662	1	1	31	1	0	1	0	0	0	0	0	0	15663	1188	41	3		3	TBC1D26	17	15638662	De_novo_Start_InFrame	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2134275	15638662	65556548	1931	7483											
PEMT	10400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	17415964	17415964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcagcatggcctgcgTgaagctgtgggcaggggatg	18	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:17415964T>C	ENST00000395783.1	-	4	393	c.214A>G	c.(214-216)Acg>Gcg	p.T72A	PEMT_ENST00000435340.2_Missense_Mutation_p.T87A|PEMT_ENST00000395781.2_Missense_Mutation_p.T109A|PEMT_ENST00000255389.5_Missense_Mutation_p.T109A|PEMT_ENST00000395782.1_Missense_Mutation_p.T72A|PEMT_ENST00000484838.2_5'UTR	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	72					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		ATGGCCTGCGTGAAGCTGTGG	0.692																																					p.T109A		.											.	PEMT-90	0			c.A325G						.						24	26	26					17																	17415964		2201	4300	6501	SO:0001583	missense	10400	exon4			CCTGCGTGAAGCT	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.214A>G	17.37:g.17415964T>C	ENSP00000379129:p.Thr72Ala	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	179	73	NM_001267552	0	0	0	0	0	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	ENST00000395783.1	37	CCDS11187.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429616	0.25726	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.23348	2.54;2.57;2.57;1.92;1.91	5.09	5.09	0.68999	.	0.049732	0.85682	D	0.000000	T	0.24812	0.0602	M	0.65498	2.005	0.44771	D	0.99777	B;P;B	0.34909	0.185;0.475;0.206	B;B;B	0.33339	0.093;0.162;0.043	T	0.03957	-1.0989	10	0.12430	T	0.62	-26.8635	11.2441	0.48987	0.0:0.0:0.0:1.0	.	109;109;72	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	A	109;72;72;87;109;109	ENSP00000255389:T109A;ENSP00000379129:T72A;ENSP00000379128:T72A;ENSP00000391288:T87A;ENSP00000379127:T109A	ENSP00000255389:T109A	T	-	1	0	PEMT	17356689	1.000000	0.71417	0.980000	0.43619	0.057000	0.15508	6.224000	0.72265	1.914000	0.55421	0.460000	0.39030	ACG	.		0.692	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		C	17415964	T	C	17415964	3	2	31	1	0	0	0	0	1	0	0	0	11765	1696	59	4	401	4	PEMT	17	17415964	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1777302	17415964	63779246	1932	7484											
RAI1	10743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	17701546	17701546	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaggcctgacggcccagctGacccggccaagcagggccca	13	18	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:17701546G>C	ENST00000353383.1	+	3	5753	c.5284G>C	c.(5284-5286)Gac>Cac	p.D1762H	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1762					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGCCCAGCTGACCCGGCCAA	0.701																																					p.D1762H		.											.	RAI1-91	0			c.G5284C						.						11	14	13					17																	17701546		2189	4286	6475	SO:0001583	missense	10743	exon3			CCAGCTGACCCGG	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5284G>C	17.37:g.17701546G>C	ENSP00000323074:p.Asp1762His	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	70	13	NM_030665	0	0	0	0	0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823479	0.50739	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.67698	-0.28	4.56	4.56	0.56223	.	0.076438	0.53938	D	0.000051	T	0.72763	0.3501	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	P	0.58820	0.846	T	0.76621	-0.2892	10	0.72032	D	0.01	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	1762	Q7Z5J4	RAI1_HUMAN	H	1762;1762;1650	ENSP00000323074:D1762H	ENSP00000322928:D1650H	D	+	1	0	RAI1	17642271	0.993000	0.37304	0.948000	0.38648	0.805000	0.45488	5.072000	0.64389	2.387000	0.81309	0.561000	0.74099	GAC	.		0.701	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		C	17701546	G	C	17701546	3	2	31	1	0	0	0	0	1	0	0	0	13052	1290	45	3	5286	3	RAI1	17	17701546	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	285582	17701546	63493664	1933	7485											
FLII	2314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18148680	18148680	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagattacctggcaggccttCaggctcagcttgatctccac	9	14	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:18148680C>G	ENST00000327031.4	-	29	3888	c.3663G>C	c.(3661-3663)ctG>ctC	p.L1221L	FLII_ENST00000579294.1_Silent_p.L1210L|FLII_ENST00000545457.2_Silent_p.L1166L|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.L1135L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1221					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)					GGCAGGCCTTCAGGCTCAGCT	0.627																																					p.L1221L		.											.	FLII-91	0			c.G3663C						.						86	87	87					17																	18148680		2203	4300	6503	SO:0001819	synonymous_variant	2314	exon29			GGCCTTCAGGCTC	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.3663G>C	17.37:g.18148680C>G		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	127	57	NM_002018	0	0	0	0	0	B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																			.		0.627	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		G	18148680	C	G	18148680	2	3	31	1	0	0	0	0	0	0	0	1	5947	813	29	3		3	FLII	17	18148680	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	447134	18148680	63046530	1934	7486											
MAP2K3	5606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	21201734	21201734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccattctaggaaaatccaAgaggaagaaggatctacgga	10	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21201734A>G	ENST00000342679.4	+	2	308	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	20					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGAAAATCCAAGAGGAAGAAG	0.572																																					p.K20R		.											.	MAP2K3-790	0			c.A59G						.						230	227	228					17																	21201734		2203	4300	6503	SO:0001583	missense	5606	exon2			AATCCAAGAGGAA	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.59A>G	17.37:g.21201734A>G	ENSP00000345083:p.Lys20Arg	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	190	28	NM_145109	0	0	0	0	0	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095795	0.36952	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.72505	-0.66	5.43	1.96	0.26148	.	0.220163	0.35291	N	0.003302	T	0.43233	0.1238	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10222	-1.0639	10	0.11182	T	0.66	-30.3261	8.0023	0.30304	0.6714:0.0:0.3286:0.0	.	20	P46734	MP2K3_HUMAN	R	20;24	ENSP00000345083:K20R	ENSP00000319139:K24R	K	+	2	0	MAP2K3	21142327	0.492000	0.26027	0.998000	0.56505	0.993000	0.82548	0.380000	0.20602	0.111000	0.17947	0.533000	0.62120	AAG	.		0.572	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		G	21201734	A	G	21201734	3	3	31	1	0	0	0	0	1	0	0	0	9276	72	3	4	65	4	MAP2K3	17	21201734	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3053054	21201734	59993476	1935	7487											
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu	37	chr17	21318888	21318888	+	Frame_Shift_Del	DEL	C	C	-													ttcaccacctgtgtggacatCcgctggcggtacatgctgct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21318888delC	ENST00000583088.1	+	3	1129	c.234delC	c.(232-234)atcfs	p.I78fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.I78fs	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	78					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGTGGACATCCGCTGGCGGT	0.572										Prostate(3;0.18)																											p.I78fs		.											.	.	0			c.234delC						.						214	132	160					17																	21318888		2203	4300	6503	SO:0001589	frameshift_variant	100134444	exon3			GGACATCCGCTGG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.234delC	17.37:g.21318888delC	ENSP00000463778:p.Ile78fs	Somatic	379	0		WXS	Illumina GAIIx	Phase_I	484	35	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Frame_Shift_Del	DEL	ENST00000583088.1	37	CCDS11219.1																																																																																			.		0.572	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		-	21318888	C	-	21318888	7	5	31	1	0	1	0	1	0	0	0	0	8073	845	30	0	236	0	KCNJ12	17	21318888	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	117154	21318888	59876322	1936	7488			5	33		5	5	1023	N	G_C	1.755015e-06
KCNJ12	3768	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	21319147	21319147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcttcatggtggtggccCagtccatcgtgggctgcatc	13	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319147C>G	ENST00000583088.1	+	3	1388	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Q165E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	165					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGTGGTGGCCCAGTCCATCGT	0.622										Prostate(3;0.18)																											p.Q165E		.											.	.	0			c.C493G						.						79	74	76					17																	21319147		2203	4299	6502	SO:0001583	missense	100134444	exon3			GTGGCCCAGTCCA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.493C>G	17.37:g.21319147C>G	ENSP00000463778:p.Gln165Glu	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	267	42	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314587	0.81358	.	.	ENSG00000184185	ENST00000331718	D	0.96104	-3.91	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98628	1.0670	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	165	Q14500	IRK12_HUMAN	E	165	ENSP00000328150:Q165E	ENSP00000328150:Q165E	Q	+	1	0	KCNJ12	21259740	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	CAG	.		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		G	21319147	C	G	21319147	3	3	31	1	0	0	0	0	1	0	0	0	8073	595	21	3	495	3	KCNJ12	17	21319147	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	259	21319147	59876063	1937	7489			5	33		5	5	1023	N	G_C	1.755015e-06
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	21319212	21319212	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcatggccaagatggcaagGcccaagaagcgggcacagac	13	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319212G>C	ENST00000583088.1	+	3	1453	c.558G>C	c.(556-558)agG>agC	p.R186S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R186S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	186					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGATGGCAAGGCCCAAGAAGC	0.622										Prostate(3;0.18)																											p.R186S		.											.	.	0			c.G558C						.						85	78	81					17																	21319212		2203	4300	6503	SO:0001583	missense	100134444	exon3			GGCAAGGCCCAAG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.558G>C	17.37:g.21319212G>C	ENSP00000463778:p.Arg186Ser	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	320	23	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474349	0.63737	.	.	ENSG00000184185	ENST00000331718	D	0.93763	-3.28	5.32	2.16	0.27623	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	0.94873	0.8343	M	0.83384	2.64	0.53688	D	0.99997	D	0.63046	0.992	P	0.58928	0.848	D	0.93759	0.7065	10	0.87932	D	0	.	6.4894	0.22107	0.1973:0.1395:0.6632:0.0	.	186	Q14500	IRK12_HUMAN	S	186	ENSP00000328150:R186S	ENSP00000328150:R186S	R	+	3	2	KCNJ12	21259805	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	3.171000	0.50824	1.207000	0.43291	0.655000	0.94253	AGG	.		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		C	21319212	G	C	21319212	3	2	31	1	0	0	0	0	1	0	0	0	8073	1194	42	3	560	3	KCNJ12	17	21319212	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	65	21319212	59875998	1938	7490			5	33		5	5	1023	N	G_C	1.755015e-06
KCNJ12	3768	bcgsc.ca	37	chr17	21319596	21319596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaccacccaggcccgcagCtcctacctggccaatgagat	9	16	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319596C>A	ENST00000583088.1	+	3	1837	c.942C>A	c.(940-942)agC>agA	p.S314R	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S314R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	314					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGGCCCGCAGCTCCTACCTGG	0.587										Prostate(3;0.18)																											p.S314R		.											.	.	0			c.C942A						.						113	114	113					17																	21319596		2203	4300	6503	SO:0001583	missense	100134444	exon3			CCGCAGCTCCTAC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.942C>A	17.37:g.21319596C>A	ENSP00000463778:p.Ser314Arg	Somatic	389	2		WXS	Illumina GAIIx	Phase_I	414	38	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267988	0.59540	.	.	ENSG00000184185	ENST00000331718	D	0.94862	-3.54	5.44	1.87	0.25490	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.90198	3.095	0.51482	D	0.999922	D	0.89917	1.0	D	0.97110	1.0	D	0.96917	0.9671	10	0.87932	D	0	.	11.3272	0.49456	0.0:0.7622:0.0:0.2378	.	314	Q14500	IRK12_HUMAN	R	314	ENSP00000328150:S314R	ENSP00000328150:S314R	S	+	3	2	KCNJ12	21260189	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.605000	0.46283	0.658000	0.30925	0.561000	0.74099	AGC	.		0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21319596	C	A	21319596	3	1	31	1	0	0	0	0	1	0	0	0	8073	796	28	3	944	3	KCNJ12	17	21319596	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	384	21319596	59875614	1939	7491			5	33		5	5	1023	N	G_C	1.755015e-06
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	21319910	21319910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagactccaggctggcgGcggggtcctggagcagcggc	18	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319910G>T	ENST00000583088.1	+	3	2151	c.1256G>T	c.(1255-1257)gGc>gTc	p.G419V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G419V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	419					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGGCTGGCGGCGGGGTCCTG	0.697										Prostate(3;0.18)																											p.G419V		.											.	.	0			c.G1256T						.						21	24	23					17																	21319910		2202	4292	6494	SO:0001583	missense	100134444	exon3			CTGGCGGCGGGGT	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1256G>T	17.37:g.21319910G>T	ENSP00000463778:p.Gly419Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	95	7	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479707	0.01035	.	.	ENSG00000184185	ENST00000331718	D	0.86627	-2.15	5.63	2.19	0.27852	.	0.921095	0.09350	N	0.814204	T	0.64951	0.2645	N	0.01576	-0.805	0.09310	N	1	B	0.18863	0.031	B	0.21360	0.034	T	0.56074	-0.8039	10	0.16896	T	0.51	.	4.6192	0.12442	0.1139:0.154:0.5759:0.1562	.	419	Q14500	IRK12_HUMAN	V	419	ENSP00000328150:G419V	ENSP00000328150:G419V	G	+	2	0	KCNJ12	21260503	0.141000	0.22595	0.000000	0.03702	0.004000	0.04260	3.585000	0.53943	0.720000	0.32209	-0.165000	0.13383	GGC	.		0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319910	G	T	21319910	3	4	31	1	0	0	0	0	1	0	0	0	8073	1203	42	3	1258	3	KCNJ12	17	21319910	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	314	21319910	59875300	1940	7492			5	33		5	5	1023	N	G_C	1.755015e-06
SARM1	7448	hgsc.bcm.edu	37	chr17	26699121	26699121	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgtcgggcccacggcGgggcgccgagcggctggcgg	20	15	0	0	rs7212814		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1	1	1	5008	,	,		9002	1		1	False		,,,				2504	1				p.R23P		.											.	.	0			c.G68C						.						2	2	2					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015077	0	0	0	0	0	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26699121	G	C	26699121	1	2	31	0	1	0	0	0	0	0	0	0	13887	1116	39	2		2	SARM1	17	26699121	5'Flank	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5379211	26699121	54496089	1941	7493											
PIPOX	51268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	27383223	27383224	+	Missense_Mutation	DNP	GG	GG	AA													caagctggcccctgtggtggGgaagatcctgtatgaattaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27383223_27383224GG>AA	ENST00000323372.4	+	8	1399_1400	c.1073_1074GG>AA	c.(1072-1074)gGG>gAA	p.G358E	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	358					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCTGTGGTGGGGAAGATCCTGT	0.52																																					p.G358E		.											.	PIPOX-90	0			c.G1074A						.																																			SO:0001583	missense	51268	exon8			GGTGGGGAAGATC	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	Exception_encountered	17.37:g.27383223_27383224delinsAA	ENSP00000317721:p.Gly358Glu	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	104	12	NM_016518	0	0	0	0	0	B3KNH0|Q96H28|Q9C070	Missense_Mutation	DNP	ENST00000323372.4	37	CCDS11248.1																																																																																			.		0.52	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		AA	27383224	GG	AA	27383223	3	1	31	1	0	0	0	0	1	0	0	0	11982	1232	43	3	1103	3	PIPOX	17	27383223	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	684102	27383223	53811987	1942	7494											
ABHD15	116236	bcgsc.ca	37	chr17	27889986	27889986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgcggtcccagtaggTatcccagctgatggggaagc	15	10	0	1	rs542939	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27889986T>C	ENST00000307201.4	-	2	1170	c.1000A>G	c.(1000-1002)Acc>Gcc	p.T334A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	334			T -> A (in dbSNP:rs542939). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCAGTAGGTATCCCAGCTG	0.602													T|||	3846	0.767971	0.8109	0.6585	5008	,	,		18388	0.8998		0.6531	False		,,,				2504	0.7699				p.T334A		.											.	ABHD15-90	0			c.A1000G						.	T	ALA/THR	3388,1018	725.8+/-409.7	1293,802,108	68	62	64		1000	2.6	1	17	dbSNP_83	64	5642,2958	666.5+/-402.4	1840,1962,498	yes	missense	ABHD15	NM_198147.2	58	3133,2764,606	CC,CT,TT		34.3953,23.1049,30.5705	benign	334/469	27889986	9030,3976	2203	4300	6503	SO:0001583	missense	116236	exon2			AGTAGGTATCCCA	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1000A>G	17.37:g.27889986T>C	ENSP00000302657:p.Thr334Ala	Somatic	114	2		WXS	Illumina GAIIx	Phase_I	81	5	NM_198147	0	0	0	0	0	Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	1665	0.7623626373626373	395	0.8028455284552846	243	0.6712707182320442	520	0.9090909090909091	507	0.6688654353562006	T	9.089	1.001241	0.19121	0.768951	0.656047	ENSG00000168792	ENST00000307201	T	0.10763	2.84	5.92	2.57	0.30868	.	0.492803	0.21005	N	0.081795	T	0.00012	0.0000	N	0.02916	-0.46	0.44539	P	0.0025020000000000042	B	0.19935	0.04	B	0.20184	0.028	T	0.09952	-1.0651	9	0.23891	T	0.37	-10.5565	7.8137	0.29247	0.0:0.3108:0.0:0.6892	rs542939;rs3809794;rs52828212;rs59993345;rs542939	334	Q6UXT9	ABH15_HUMAN	A	334	ENSP00000302657:T334A	ENSP00000302657:T334A	T	-	1	0	ABHD15	24914112	0.040000	0.19996	0.994000	0.49952	0.997000	0.91878	0.092000	0.15066	0.510000	0.28216	0.533000	0.62120	ACC	T|0.268;C|0.732		0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		C	27889986	T	C	27889986	3	2	31	1	0	0	0	0	1	0	0	0	81	1638	57	4	410	4	ABHD15	17	27889986	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	506763	27889986	53305224	1943	7495											
GIT1	28964	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	27901828	27901830	+	In_Frame_Del	DEL	GGC	GGC	-													agcagctggaagtccactggGgcgccgggctctgggggcac							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GGC	GGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27901828_27901830delGGC	ENST00000225394.3	-	20	2424_2426	c.2176_2178delGCC	c.(2176-2178)gccdel	p.A726del	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000581348.1_In_Frame_Del_p.A712del|GIT1_ENST00000394869.3_In_Frame_Del_p.A735del	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	726	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTCCACTGGGGCGCCGGGCTCT	0.655																																					p.735_735del	Colon(81;41 1719 20078 35068)	.											.	GIT1-251	0			c.2203_2205del						.																																			SO:0001651	inframe_deletion	28964	exon21			CACTGGGGCGCCG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.2176_2178delGCC	17.37:g.27901828_27901830delGGC	ENSP00000225394:p.Ala726del	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	57	10	NM_001085454	0	0	0	0	0	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	In_Frame_Del	DEL	ENST00000225394.3	37	CCDS11250.1																																																																																			.		0.655	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		-	27901830	GGC	-	27901828	7	5	31	1	0	1	0	1	0	0	0	0	6422	1219	43	0	111	0	GIT1	17	27901828	In_Frame_Del	DEL	GGC	TCGA-OR-A5KB-01A-11D-A30A-10	11842	27901828	53293382	1944	7496											
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	28407846	28407846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacatcttcttctggaaCcagtcccgtaataagcatga	9	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:28407846C>T	ENST00000394835.3	+	17	3465	c.3273C>T	c.(3271-3273)aaC>aaT	p.N1091N	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.N967N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1091							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						TCTTCTGGAACCAGTCCCGTA	0.443																																					p.N1091N		.											.	EFCAB5-70	0			c.C3273T						.						73	69	70					17																	28407846		1893	4112	6005	SO:0001819	synonymous_variant	374786	exon17			CTGGAACCAGTCC	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.3273C>T	17.37:g.28407846C>T		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	155	34	NM_198529	0	0	0	0	0	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																			.		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		T	28407846	C	T	28407846	2	4	31	1	0	0	0	0	0	0	0	1	4952	506	18	3		3	EFCAB5	17	28407846	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	506018	28407846	52787364	1945	7497											
CPD	1362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	28748840	28748840	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttacaaccttacagtAgttttaactgggtaagaatt	8	6	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:28748840A>T	ENST00000225719.4	+	4	1372	c.1296A>T	c.(1294-1296)gtA>gtT	p.V432V	CPD_ENST00000543464.2_Silent_p.V185V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	432	Carboxypeptidase-like 1.					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						ACCTTACAGTAGTTTTAACTG	0.338																																					p.V432V		.											.	CPD-92	0			c.A1296T						.						101	103	102					17																	28748840		2203	4300	6503	SO:0001819	synonymous_variant	1362	exon4			TACAGTAGTTTTA	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.1296A>T	17.37:g.28748840A>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	68	18	NM_001304	0	0	0	0	0	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																			.		0.338	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		T	28748840	A	T	28748840	2	4	31	1	0	0	0	0	0	0	0	1	3805	407	15	5		5	CPD	17	28748840	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	340994	28748840	52446370	1946	7498											
CRLF3	51379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29120477	29120477	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagcagcataccatgaggcaCcaatgtggaatgacctatct	9	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:29120477C>G	ENST00000324238.6	-	5	941	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L	CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.V157L	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	273	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCATGAGGCACCAATGTGGAA	0.498																																					p.V273L	Pancreas(30;346 881 29244 33464 41299)	.											.	CRLF3-90	0			c.G817C						.						75	72	73					17																	29120477		2203	4300	6503	SO:0001583	missense	51379	exon5			GAGGCACCAATGT	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.817G>C	17.37:g.29120477C>G	ENSP00000318804:p.Val273Leu	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	111	46	NM_015986	0	0	0	0	0	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057975	0.55325	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.27890	1.64;1.64	5.48	5.48	0.80851	.	0.106561	0.64402	D	0.000005	T	0.27241	0.0668	L	0.45581	1.43	0.54753	D	0.999983	B	0.29988	0.264	B	0.17722	0.019	T	0.08086	-1.0739	10	0.12103	T	0.63	-12.8311	19.3155	0.94211	0.0:1.0:0.0:0.0	.	273	Q8IUI8	CRLF3_HUMAN	L	273;157	ENSP00000318804:V273L;ENSP00000444188:V157L	ENSP00000318804:V273L	V	-	1	0	CRLF3	26144603	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.535000	0.67173	2.581000	0.87130	0.591000	0.81541	GTG	.		0.498	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			G	29120477	C	G	29120477	3	3	31	1	0	0	0	0	1	0	0	0	3895	507	18	3	527	3	CRLF3	17	29120477	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	371637	29120477	52074733	1947	7499											
SPACA3	124912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	31322454	31322454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagccctgtttcttctcCttctgtgagtggaccacgga	9	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:31322454C>A	ENST00000269053.3	+	2	132	c.62C>A	c.(61-63)cCt>cAt	p.P21H	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	21					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GTTTCTTCTCCTTCTGTGAGT	0.612																																					p.P21H		.											.	SPACA3-92	0			c.C62A						.						76	79	78					17																	31322454		2203	4300	6503	SO:0001583	missense	124912	exon2			CTTCTCCTTCTGT	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.62C>A	17.37:g.31322454C>A	ENSP00000269053:p.Pro21His	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	130	20	NM_173847	0	0	0	0	0	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.942991	0.53079	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71461	-0.57	4.06	4.06	0.47325	.	4.691380	0.00508	N	0.000176	T	0.67192	0.2867	L	0.27053	0.805	0.24151	N	0.995691	P	0.50943	0.94	B	0.43783	0.431	T	0.59731	-0.7399	10	0.62326	D	0.03	-7.0287	12.4446	0.55643	0.0:1.0:0.0:0.0	.	21	Q8IXA5	SACA3_HUMAN	H	21;22	ENSP00000269053:P21H	ENSP00000269053:P21H	P	+	2	0	SPACA3	28346567	0.007000	0.16637	0.023000	0.16930	0.114000	0.19823	0.659000	0.24994	0.689000	0.31550	0.364000	0.22116	CCT	.		0.612	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		A	31322454	C	A	31322454	3	1	31	1	0	0	0	0	1	0	0	0	15018	681	24	3	68	3	SPACA3	17	31322454	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2201977	31322454	49872756	1948	7500											
ACCN1	40	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	31618866	31618866	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtacagaaggccagcaCccacagcgcccgccgctgga	13	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:31618866C>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Missense_Mutation_p.V90L	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AAGGCCAGCACCCACAGCGCC	0.692																																					p.V90L		.											.	.	0			c.G268T						.						18	21	20					17																	31618866		2188	4287	6475	SO:0001627	intron_variant	40	exon1			CCAGCACCCACAG	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179781G>T	17.37:g.31618866C>A		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	69	20	NM_183377	0	0	0	0	0	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421310	0.11928	.	.	ENSG00000108684	ENST00000225823	T	0.61274	0.12	4.47	4.47	0.54385	.	0.856306	0.10128	N	0.712471	T	0.31451	0.0797	N	0.03177	-0.4	0.42447	D	0.992733	B	0.02656	0.0	B	0.11329	0.006	T	0.12477	-1.0546	10	0.08179	T	0.78	-34.1207	9.9704	0.41749	0.2029:0.7971:0.0:0.0	.	90	E9PBX2	.	L	90	ENSP00000225823:V90L	ENSP00000225823:V90L	V	-	1	0	ACCN1	28642979	0.699000	0.27786	1.000000	0.80357	0.845000	0.48019	1.124000	0.31320	2.029000	0.59856	0.313000	0.20887	GTG	.		0.692	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		A	31618866	C	A	31618866	1	1	31	0	1	0	0	0	0	0	0	0	128	507	18	3		3	ACCN1	17	31618866	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	296412	31618866	49576344	1949	7501											
UNC45B	146862	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	33498375	33498375	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctgtactcggtggccaCcaccctggtgaactgcacca	9	16	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33498375C>A	ENST00000268876.5	+	13	1827	c.1730C>A	c.(1729-1731)aCc>aAc	p.T577N	UNC45B_ENST00000591048.1_Missense_Mutation_p.T496N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T575N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T575N|UNC45B_ENST00000378449.1_Missense_Mutation_p.T496N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	577					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)				TCGGTGGCCACCACCCTGGTG	0.552											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T577N		.											.	UNC45B-157	0			c.C1730A						.						142	114	124					17																	33498375		2203	4300	6503	SO:0001583	missense	146862	exon13			TGGCCACCACCCT	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.1730C>A	17.37:g.33498375C>A	ENSP00000268876:p.Thr577Asn	Somatic	154	2	840	WXS	Illumina GAIIx	Phase_I	179	82	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904906	0.52333	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.68903	-0.36;-0.36;-0.36	5.87	3.72	0.42706	Armadillo-like helical (1);Armadillo-type fold (1);	0.195433	0.56097	N	0.000036	T	0.54870	0.1885	L	0.43152	1.355	0.38896	D	0.957225	B;B;B	0.33238	0.403;0.002;0.001	B;B;B	0.28232	0.087;0.006;0.003	T	0.59289	-0.7482	10	0.40728	T	0.16	-32.7377	11.7591	0.51892	0.1422:0.7287:0.1291:0.0	.	496;575;577	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	577;577;575;496	ENSP00000268876:T577N;ENSP00000412840:T575N;ENSP00000367710:T496N	ENSP00000268876:T577N	T	+	2	0	UNC45B	30522488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.354000	0.52254	1.564000	0.49628	0.655000	0.94253	ACC	.		0.552	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33498375	C	A	33498375	3	1	31	1	0	0	0	0	1	0	0	0	17038	507	18	3	1776	3	UNC45B	17	33498375	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1879509	33498375	47696835	1950	7502											
UNC45B	146862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33504573	33504573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacagagggatgggcttcaGaactatgaggctctcctagg	13	9	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33504573G>T	ENST00000268876.5	+	17	2302	c.2205G>T	c.(2203-2205)caG>caT	p.Q735H	UNC45B_ENST00000591048.1_Missense_Mutation_p.Q654H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q733H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q733H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q654H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	735					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)				ATGGGCTTCAGAACTATGAGG	0.572																																					p.Q735H		.											.	UNC45B-157	0			c.G2205T						.						48	35	40					17																	33504573		2201	4289	6490	SO:0001583	missense	146862	exon17			GCTTCAGAACTAT	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.2205G>T	17.37:g.33504573G>T	ENSP00000268876:p.Gln735His	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	79	45	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693025	0.68271	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.48836	0.8;1.56;0.8	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.113026	0.64402	D	0.000009	T	0.69691	0.3139	M	0.87269	2.87	0.43750	D	0.996257	P;D;D	0.76494	0.899;0.993;0.999	P;D;D	0.68353	0.568;0.957;0.94	T	0.73886	-0.3841	10	0.66056	D	0.02	-31.2766	11.539	0.50655	0.0808:0.0:0.9192:0.0	.	654;733;735	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	735;735;733;654	ENSP00000268876:Q735H;ENSP00000412840:Q733H;ENSP00000367710:Q654H	ENSP00000268876:Q735H	Q	+	3	2	UNC45B	30528686	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.844000	0.55873	2.757000	0.94681	0.563000	0.77884	CAG	.		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33504573	G	T	33504573	3	4	31	1	0	0	0	0	1	0	0	0	17038	933	33	3	2267	3	UNC45B	17	33504573	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6198	33504573	47690637	1951	7503											
AMAC1	146861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33520493	33520493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgcacaccagggcaggGtgggccttggtgaccgcata	15	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33520493G>A	ENST00000297307.5	-	1	919	c.834C>T	c.(832-834)caC>caT	p.H278H	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	278	EamA 2.					integral component of membrane (GO:0016021)											CCAGGGCAGGGTGGGCCTTGG	0.572																																					p.H278H		.											.	.	0			c.C834T						.						167	152	157					17																	33520493		2203	4300	6503	SO:0001819	synonymous_variant	146861	exon1			GGCAGGGTGGGCC	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.834C>T	17.37:g.33520493G>A		Somatic	219	0		WXS	Illumina GAIIx	Phase_I	251	53	NM_152462	0	0	0	0	0	B9EGE9	Silent	SNP	ENST00000297307.5	37	CCDS11293.1																																																																																			.		0.572	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33520493	G	A	33520493	2	1	31	1	0	0	0	0	0	0	0	1	559	1252	44	3		3	AMAC1	17	33520493	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15920	33520493	47674717	1952	7504											
SLFN5	162394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33592239	33592239	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaagcaaagttcatcactCagacagcaagggatggccca	11	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33592239C>T	ENST00000299977.4	+	5	2156	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	670					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTCATCACTCAGACAGCAAG	0.478																																					p.Q670X		.											.	SLFN5-92	0			c.C2008T						.						160	152	155					17																	33592239		2203	4300	6503	SO:0001587	stop_gained	162394	exon5			ATCACTCAGACAG	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2008C>T	17.37:g.33592239C>T	ENSP00000299977:p.Gln670*	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	184	26	NM_144975	0	0	0	0	0	Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	17.54	3.414733	0.62511	.	.	ENSG00000166750	ENST00000299977	.	.	.	3.27	-0.25	0.13007	.	0.214694	0.23563	N	0.046827	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.355	0.21397	0.199:0.4128:0.3882:0.0	.	.	.	.	X	670	.	ENSP00000299977:Q670X	Q	+	1	0	SLFN5	30616352	0.000000	0.05858	0.239000	0.24122	0.057000	0.15508	-0.427000	0.06999	-0.105000	0.12132	-0.181000	0.13052	CAG	.		0.478	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		T	33592239	C	T	33592239	4	4	31	1	0	0	0	0	0	1	0	0	14782	827	29	3	2022	3	SLFN5	17	33592239	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	71746	33592239	47602971	1953	7505											
SLFN13	146857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33768243	33768243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggacaatccttttctctctGagtgatggtttttgccttcc	8	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33768243G>C	ENST00000285013.6	-	6	2340	c.2065C>G	c.(2065-2067)Cag>Gag	p.Q689E	SLFN13_ENST00000542635.1_Missense_Mutation_p.Q689E|SLFN13_ENST00000533791.1_Missense_Mutation_p.Q689E|SLFN13_ENST00000534689.1_Missense_Mutation_p.Q371E|SLFN13_ENST00000360502.2_Missense_Mutation_p.Q371E|SLFN13_ENST00000526861.1_Missense_Mutation_p.Q689E	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	689						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTTCTCTCTGAGTGATGGTT	0.453																																					p.Q689E		.											.	SLFN13-91	0			c.C2065G						.						127	134	132					17																	33768243		2203	4300	6503	SO:0001583	missense	146857	exon6			CTCTCTGAGTGAT	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2065C>G	17.37:g.33768243G>C	ENSP00000285013:p.Gln689Glu	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	118	23	NM_144682	0	0	0	0	0	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	5.724	0.317997	0.10845	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	3.41	1.2	0.21068	Domain of unknown function DUF2075 (1);	0.746921	0.11528	N	0.554946	D	0.84880	0.5570	M	0.77103	2.36	0.09310	N	0.999999	B;B	0.19935	0.04;0.009	B;B	0.24394	0.053;0.008	T	0.69960	-0.5003	10	0.22706	T	0.39	.	7.8989	0.29723	0.0:0.0:0.5547:0.4453	.	371;689	Q68D06-2;Q68D06	.;SLN13_HUMAN	E	689;371;689;689;371	ENSP00000285013:Q689E;ENSP00000353692:Q371E;ENSP00000434439:Q689E;ENSP00000444016:Q689E;ENSP00000435442:Q371E	ENSP00000285013:Q689E	Q	-	1	0	SLFN13	30792356	0.000000	0.05858	0.057000	0.19452	0.420000	0.31355	0.133000	0.15912	0.194000	0.20326	0.407000	0.27541	CAG	.		0.453	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		C	33768243	G	C	33768243	3	2	31	1	0	0	0	0	1	0	0	0	14781	1299	45	3	632	3	SLFN13	17	33768243	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	176004	33768243	47426967	1954	7506											
STARD3	10948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37818535	37818535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggggcttcatcgtgCtcaagtcggccagtaacccc	12	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:37818535C>T	ENST00000336308.5	+	14	1389	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	STARD3_ENST00000544210.2_Missense_Mutation_p.L391F|STARD3_ENST00000580611.1_Missense_Mutation_p.L365F|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000394250.4_Missense_Mutation_p.L373F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	391	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCATCGTGCTCAAGTCGGC	0.592																																					p.L391F		.											.	STARD3-90	0			c.C1171T						.						52	53	52					17																	37818535		2203	4300	6503	SO:0001583	missense	10948	exon14			ATCGTGCTCAAGT		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1171C>T	17.37:g.37818535C>T	ENSP00000337446:p.Leu391Phe	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	146	46	NM_006804	0	0	0	0	0	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816538	0.32145	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79247	-1.25;-1.25;-1.25	5.78	5.78	0.91487	Lipid-binding START (3);START-like domain (1);	0.231220	0.34986	N	0.003533	T	0.64735	0.2625	L	0.38175	1.15	0.58432	D	0.999994	B;B;B;B;B	0.27229	0.172;0.142;0.106;0.069;0.136	B;B;B;B;B	0.28709	0.093;0.071;0.059;0.062;0.091	T	0.57625	-0.7779	10	0.09843	T	0.71	-1.3798	8.9435	0.35745	0.1495:0.7756:0.0:0.0749	.	391;156;391;373;391	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	F	391;391;373	ENSP00000337446:L391F;ENSP00000439869:L391F;ENSP00000377794:L373F	ENSP00000337446:L391F	L	+	1	0	STARD3	35072061	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.734000	0.47368	2.750000	0.94351	0.549000	0.68633	CTC	.		0.592	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			T	37818535	C	T	37818535	3	4	31	1	0	0	0	0	1	0	0	0	15304	797	28	3	1234	3	STARD3	17	37818535	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4050292	37818535	43376675	1955	7507											
MED24	9862	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	38179422	38179422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagtagacgccgcccaTgtgcagcagggtgtcaaaga	13	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:38179422T>C	ENST00000394128.2	-	20	2293	c.2212A>G	c.(2212-2214)Atg>Gtg	p.M738V	MED24_ENST00000501516.3_Missense_Mutation_p.M757V|MED24_ENST00000394127.2_Missense_Mutation_p.M725V|MED24_ENST00000394126.1_Missense_Mutation_p.M763V|MED24_ENST00000356271.3_Missense_Mutation_p.M725V	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	738					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACGCCGCCCATGTGCAGCAGG	0.602																																					p.M738V		.											.	MED24-187	0			c.A2212G						.						69	64	65					17																	38179422		2203	4300	6503	SO:0001583	missense	9862	exon20			CGCCCATGTGCAG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2212A>G	17.37:g.38179422T>C	ENSP00000377686:p.Met738Val	Somatic	221	2		WXS	Illumina GAIIx	Phase_I	238	114	NM_014815	0	0	0	0	0	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773958	0.31411	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.44083	0.93;0.93;0.93	4.32	4.32	0.51571	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.43152	1.355	0.58432	D	0.999999	B;P;B;P;P;P	0.44776	0.017;0.811;0.145;0.811;0.843;0.811	B;P;B;P;P;P	0.61722	0.021;0.879;0.111;0.828;0.893;0.879	T	0.37407	-0.9707	10	0.07175	T	0.84	-27.2368	13.671	0.62424	0.0:0.0:0.0:1.0	.	688;648;648;725;738;680	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	V	738;738;738;688;725;680;299;209;648	ENSP00000377686:M738V;ENSP00000443344:M688V;ENSP00000377685:M725V	ENSP00000348610:M738V	M	-	1	0	MED24	35432948	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.829000	0.86735	1.804000	0.52760	0.459000	0.35465	ATG	.		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		C	38179422	T	C	38179422	3	2	31	1	0	0	0	0	1	0	0	0	9480	1464	51	4	785	4	MED24	17	38179422	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	360887	38179422	43015788	1956	7508											
WIPF2	147179	broad.mit.edu	37	chr17	38430251	38430251	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtccggtctttcttgGgtgagtagctagctatctgt	11	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:38430251G>T	ENST00000323571.4	+	6	1420	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Splice_Site_p.D136Y|WIPF2_ENST00000394103.3_Splice_Site_p.D136Y|WIPF2_ENST00000583130.1_Splice_Site_p.D394Y|WIPF2_ENST00000585043.1_Splice_Site_p.D394Y	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	394					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						GTCTTTCTTGGGTGAGTAGCT	0.587										HNSCC(43;0.11)																											p.D394Y		.											.	WIPF2-93	0			c.G1180T						.						129	105	113					17																	38430251		2203	4300	6503	SO:0001630	splice_region_variant	147179	exon6			TTCTTGGGTGAGT	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.1180+1G>T	17.37:g.38430251G>T		Somatic	46	1		WXS	Illumina GAIIx	Phase_I	41	8	NM_133264	0	0	0	0	0	A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359123	0.82353	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.55234	0.56;0.53;0.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.67700	2.07	0.80722	D	1	D;P	0.76494	0.999;0.878	D;P	0.70935	0.971;0.851	T	0.73525	-0.3955	10	0.87932	D	0	-10.3858	17.0585	0.86541	0.0:0.0:1.0:0.0	.	136;394	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Y	394;136;136	ENSP00000320924:D394Y;ENSP00000377663:D136Y;ENSP00000439175:D136Y	ENSP00000320924:D394Y	D	+	1	0	WIPF2	35683777	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.440000	0.73435	2.640000	0.89533	0.561000	0.74099	GAT	.		0.587	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	Missense_Mutation	T	38430251	G	T	38430251	5	4	31	1	0	0	0	0	0	0	1	0	17417	1246	43	3	1198	3	WIPF2	17	38430251	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	250829	38430251	42764959	1957	7509											
KRT20	54474	ucsc.edu	37	chr17	39041305	39041305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctggagttggagatgcGgatgccccggcctccagcac	15	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39041305G>A	ENST00000167588.3	-	1	174	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	45	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGGAGATGCGGATGCCCCGG	0.597																																					p.R45C		.											.	KRT20-155	0			c.C133T						.						71	67	68					17																	39041305		2203	4300	6503	SO:0001583	missense	54474	exon1			AGATGCGGATGCC	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.133C>T	17.37:g.39041305G>A	ENSP00000167588:p.Arg45Cys	Somatic	54	1		WXS	Illumina GAIIx	Phase_I	53	9	NM_019010	0	0	0	0	0	B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957217	0.73902	.	.	ENSG00000171431	ENST00000167588	D	0.84298	-1.83	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000013	D	0.92051	0.7481	M	0.83118	2.625	0.54753	D	0.999982	D	0.89917	1.0	D	0.71656	0.974	D	0.90585	0.4532	10	0.31617	T	0.26	.	15.5059	0.75739	0.0:0.1377:0.8623:0.0	.	45	P35900	K1C20_HUMAN	C	45	ENSP00000167588:R45C	ENSP00000167588:R45C	R	-	1	0	KRT20	36294831	1.000000	0.71417	0.999000	0.59377	0.651000	0.38670	2.638000	0.46562	2.737000	0.93849	0.655000	0.94253	CGC	.		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			A	39041305	G	A	39041305	3	1	31	1	0	0	0	0	1	0	0	0	8485	1116	39	1	1173	1	KRT20	17	39041305	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	611054	39041305	42153905	1958	7510											
KRTAP9-8	83901	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	39394402	39394402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcagcacaccctgctgCcagccctcctgctgtgtgtc	10	17	0	0	rs562595855		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39394402C>G	ENST00000254072.6	+	1	106	c.99C>G	c.(97-99)tgC>tgG	p.C33W		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	33	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACCCTGCTGCCAGCCCTCCT	0.627																																					p.C33W		.											.	KRTAP9-8-1	0			c.C99G						.						71	83	79					17																	39394402		2099	4296	6395	SO:0001583	missense	83901	exon1			CTGCTGCCAGCCC	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"Keratin associated proteins"	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.99C>G	17.37:g.39394402C>G	ENSP00000254072:p.Cys33Trp	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	94	19	NM_031963	0	0	0	0	0		Missense_Mutation	SNP	ENST00000254072.6	37	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.758287	0.49468	.	.	ENSG00000187272	ENST00000254072	T	0.02552	4.25	2.95	1.96	0.26148	.	.	.	.	.	T	0.14874	0.0359	M	0.91510	3.215	0.43230	D	0.995127	D	0.64830	0.994	D	0.63957	0.92	T	0.00478	-1.1715	9	0.87932	D	0	.	8.353	0.32314	0.0:0.8699:0.0:0.1301	.	33	Q9BYQ0	KRA98_HUMAN	W	33	ENSP00000254072:C33W	ENSP00000254072:C33W	C	+	3	2	KRTAP9-8	36647928	0.003000	0.15002	0.005000	0.12908	0.969000	0.65631	1.000000	0.29770	0.510000	0.28216	0.462000	0.41574	TGC	.		0.627	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			G	39394402	C	G	39394402	3	3	31	1	0	0	0	0	1	0	0	0	8604	747	26	3	101	3	KRTAP9-8	17	39394402	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	353097	39394402	41800808	1959	7511											
KRT36	8689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39645883	39645883	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccagcccccgctcccCacaaagccagaggtgtggca	10	17	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39645883C>A	ENST00000328119.6	-	1	233	c.234G>T	c.(232-234)gtG>gtT	p.V78V	KRT36_ENST00000393986.2_Silent_p.V28V	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	78	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCCGCTCCCCACAAAGCCAG	0.612																																					p.V78V		.											.	KRT36-90	0			c.G234T						.						71	74	73					17																	39645883		2203	4300	6503	SO:0001819	synonymous_variant	8689	exon1			GCTCCCCACAAAG	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.234G>T	17.37:g.39645883C>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	118	36	NM_003771	0	0	0	0	0	Q86XG4	Silent	SNP	ENST00000328119.6	37	CCDS11395.1																																																																																			.		0.612	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		A	39645883	C	A	39645883	2	1	31	1	0	0	0	0	0	0	0	1	8500	581	21	3		3	KRT36	17	39645883	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	251481	39645883	41549327	1960	7512											
KRT14	3861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39742633	39742633	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaggccgctgcctctGgtaccagtcacggatcttca	10	15	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39742633G>C	ENST00000167586.6	-	1	540	c.454C>G	c.(454-456)Cag>Gag	p.Q152E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	152	Linker 1.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCTCTGGTACCAGTCA	0.572																																					p.Q152E		.											.	KRT14-91	0			c.C454G						.						157	153	154					17																	39742633		2203	4300	6503	SO:0001583	missense	3861	exon1			GCCTCTGGTACCA	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.454C>G	17.37:g.39742633G>C	ENSP00000167586:p.Gln152Glu	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	238	52	NM_000526	0	0	0	0	0	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021600	0.08006	.	.	ENSG00000186847	ENST00000167586	D	0.88046	-2.33	4.95	3.97	0.46021	Filament (1);	0.000000	0.51477	D	0.000097	T	0.73171	0.3553	N	0.11756	0.17	0.33379	D	0.574613	B	0.23540	0.087	B	0.35278	0.199	T	0.67810	-0.5574	10	0.10377	T	0.69	.	4.8686	0.13620	0.0802:0.1281:0.5795:0.2123	.	152	P02533	K1C14_HUMAN	E	152	ENSP00000167586:Q152E	ENSP00000167586:Q152E	Q	-	1	0	KRT14	36996159	0.386000	0.25180	1.000000	0.80357	0.731000	0.41821	0.173000	0.16724	2.464000	0.83262	0.549000	0.68633	CAG	.		0.572	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		C	39742633	G	C	39742633	3	2	31	1	0	0	0	0	1	0	0	0	8478	1357	47	3	996	3	KRT14	17	39742633	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	96750	39742633	41452577	1961	7513											
KRT16	3868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39766464	39766464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgggaagaataggattgGccagatgcttgctgggagga	17	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39766464G>A	ENST00000301653.4	-	7	1369	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	435	Tail.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AATAGGATTGGCCAGATGCTT	0.607																																					p.G435G		.											.	KRT16-91	0			c.C1305T						.						39	41	40					17																	39766464		2203	4300	6503	SO:0001819	synonymous_variant	3868	exon7			GGATTGGCCAGAT	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1305C>T	17.37:g.39766464G>A		Somatic	263	0		WXS	Illumina GAIIx	Phase_I	284	57	NM_005557	0	0	0	0	0	A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	CCDS11401.1																																																																																			.		0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		A	39766464	G	A	39766464	2	1	31	1	0	0	0	0	0	0	0	1	8480	1190	42	3		3	KRT16	17	39766464	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	23831	39766464	41428746	1962	7514											
SC65	10609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39964251	39964251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgggcagcctggcgcacatCattcactgcagcaggacagg	14	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39964251C>T	ENST00000355468.3	-	6	1388	c.922G>A	c.(922-924)Gat>Aat	p.D308N	LEPREL4_ENST00000393928.1_Missense_Mutation_p.D308N			Q92791	SC65_HUMAN	leprecan-like 4	308					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGGCGCACATCATTCACTGCA	0.602																																					p.D308N		.											.	LEPREL4-90	0			c.G922A						.						86	71	76					17																	39964251		2203	4300	6503	SO:0001583	missense	10609	exon5			GCACATCATTCAC	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.922G>A	17.37:g.39964251C>T	ENSP00000347649:p.Asp308Asn	Somatic	213	0		WXS	Illumina GAIIx	Phase_I	199	35	NM_006455	0	0	0	0	0	Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087571	0.55968	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.44482	0.92;0.92	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.28192	0.835	0.58432	D	0.999996	D;D	0.65815	0.995;0.986	P;P	0.56474	0.799;0.799	T	0.08973	-1.0696	10	0.05959	T	0.93	-33.8835	17.4903	0.87701	0.0:1.0:0.0:0.0	.	297;308	B4DVZ5;Q92791	.;SC65_HUMAN	N	308;308;297	ENSP00000347649:D308N;ENSP00000377505:D308N	ENSP00000347649:D308N	D	-	1	0	LEPREL4	37217777	1.000000	0.71417	0.262000	0.24481	0.415000	0.31203	5.850000	0.69473	2.709000	0.92574	0.655000	0.94253	GAT	.		0.602	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			T	39964251	C	T	39964251	3	4	31	1	0	0	0	0	1	0	0	0	13912	826	29	3	407	3	SC65	17	39964251	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	197787	39964251	41230959	1963	7515											
ACLY	47	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40054039	40054039	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggccttctttgcaggcgcCacctcatcggccctggactc	10	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:40054039C>A	ENST00000352035.2	-	13	1522	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	ACLY_ENST00000537919.1_Silent_p.V203V|ACLY_ENST00000353196.1_Silent_p.V464V|ACLY_ENST00000590151.1_Silent_p.V464V|ACLY_ENST00000393896.2_Silent_p.V464V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	464					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)				TTGCAGGCGCCACCTCATCGG	0.577																																					p.V464V	Colon(64;807 1396 15971 30971)	.											.	ACLY-228	0			c.G1392T						.						42	39	40					17																	40054039		2203	4300	6503	SO:0001819	synonymous_variant	47	exon13			AGGCGCCACCTCA	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.1392G>T	17.37:g.40054039C>A		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	70	35	NM_001096	0	0	0	0	0	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																			.		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		A	40054039	C	A	40054039	2	1	31	1	0	0	0	0	0	0	0	1	143	581	21	3		3	ACLY	17	40054039	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	89788	40054039	41141171	1964	7516											
GHDC	84514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40344460	40344460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttcacggagaggcgctcCagggttcccggcagctatcg	14	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:40344460C>T	ENST00000301671.8	-	4	1129	c.688G>A	c.(688-690)Gga>Aga	p.G230R	GHDC_ENST00000414034.3_Missense_Mutation_p.G230R|GHDC_ENST00000593209.1_Missense_Mutation_p.G230R|GHDC_ENST00000428494.2_Missense_Mutation_p.G191R|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Missense_Mutation_p.G230R|GHDC_ENST00000436923.2_Missense_Mutation_p.G230R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	230						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)		AGAGGCGCTCCAGGGTTCCCG	0.652																																					p.G230R		.											.	GHDC-90	0			c.G688A						.						74	88	83					17																	40344460		2203	4300	6503	SO:0001583	missense	84514	exon5			GCGCTCCAGGGTT	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.688G>A	17.37:g.40344460C>T	ENSP00000301671:p.Gly230Arg	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	82	39	NM_001142623	0	0	0	0	0	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838882	0.71373	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	4.52	0.55395	.	0.086611	0.46145	D	0.000302	T	0.76118	0.3943	M	0.65975	2.015	0.38021	D	0.934867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.989;1.0	T	0.78884	-0.2028	9	0.44086	T	0.13	-12.0799	14.5458	0.68030	0.0:1.0:0.0:0.0	.	191;230;230	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	R	174;191;230;230;230	.	ENSP00000301671:G230R	G	-	1	0	GHDC	37597986	0.911000	0.30947	0.823000	0.32752	0.663000	0.39108	4.376000	0.59556	2.352000	0.79861	0.561000	0.74099	GGA	.		0.652	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		T	40344460	C	T	40344460	3	4	31	1	0	0	0	0	1	0	0	0	6395	603	21	3	1017	3	GHDC	17	40344460	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	290421	40344460	40850750	1965	7517											
ITGA2B	3674	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42452028	42452028	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatccccccacactcaccTgagcttcccctcggggcagg	8	20	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42452028T>A	ENST00000262407.5	-	28	2973	c.2942A>T	c.(2941-2943)cAg>cTg	p.Q981L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	981					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CACACTCACCTGAGCTTCCCC	0.637																																					p.Q981L		.											.	ITGA2B-228	0			c.A2942T						.						48	53	52					17																	42452028		2203	4300	6503	SO:0001630	splice_region_variant	3674	exon28			CTCACCTGAGCTT		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2943+1A>T	17.37:g.42452028T>A		Somatic	96	1		WXS	Illumina GAIIx	Phase_I	94	18	NM_000419	0	0	0	0	0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	T	0.632	-0.816802	0.02776	.	.	ENSG00000005961	ENST00000262407	T	0.54279	0.58	4.75	-2.13	0.07144	.	2.827680	0.02193	N	0.061554	T	0.20659	0.0497	N	0.01417	-0.88	0.22581	N	0.998963	B	0.02656	0.0	B	0.01281	0.0	T	0.05582	-1.0876	10	0.22109	T	0.4	.	1.901	0.03267	0.2768:0.4095:0.1701:0.1437	.	981	P08514	ITA2B_HUMAN	L	981	ENSP00000262407:Q981L	ENSP00000262407:Q981L	Q	-	2	0	ITGA2B	39807554	0.000000	0.05858	0.068000	0.19968	0.007000	0.05969	-1.798000	0.01747	-0.670000	0.05282	-1.272000	0.01410	CAG	.		0.637	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Missense_Mutation	A	42452028	T	A	42452028	5	1	31	1	0	0	0	0	0	0	1	0	7903	1594	55	5	189	5	ITGA2B	17	42452028	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2107568	42452028	38743182	1966	7518											
ADAM11	4185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42847371	42847371	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacctcctctcctcgcaataCgtggagcgccacttcagccg	8	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42847371C>G	ENST00000200557.6	+	4	505	c.336C>G	c.(334-336)taC>taG	p.Y112*	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	112					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCTCGCAATACGTGGAGCGCC	0.677																																					p.Y112X		.											.	ADAM11-227	0			c.C336G						.						57	50	52					17																	42847371		2203	4300	6503	SO:0001587	stop_gained	4185	exon4			GCAATACGTGGAG	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.336C>G	17.37:g.42847371C>G	ENSP00000200557:p.Tyr112*	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	144	24	NM_002390	0	0	0	0	0	Q14808|Q14809|Q14810	Nonsense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275586	0.40294	.	.	ENSG00000073670	ENST00000200557;ENST00000355638	.	.	.	4.63	-7.87	0.01183	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4089	0.87480	0.0:0.1164:0.0:0.8836	.	.	.	.	X	112;12	.	ENSP00000200557:Y112X	Y	+	3	2	ADAM11	40202897	0.009000	0.17119	0.293000	0.24932	0.627000	0.37826	-1.818000	0.01717	-1.654000	0.01499	-0.254000	0.11334	TAC	.		0.677	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		G	42847371	C	G	42847371	4	3	31	1	0	0	0	0	0	1	0	0	235	547	19	2	350	2	ADAM11	17	42847371	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	395343	42847371	38347839	1967	7519											
EFTUD2	9343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	42930702	42930703	+	Frame_Shift_Ins	INS	-	-	TC													tataaactgcagagacgcaaINStctgcaggggcctggacctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42930702_42930703insTC	ENST00000426333.2	-	25	2819_2820	c.2522_2523insGA	c.(2521-2523)gatfs	p.D841fs	EFTUD2_ENST00000402521.3_Frame_Shift_Ins_p.D806fs|EFTUD2_ENST00000591382.1_Frame_Shift_Ins_p.D841fs|EFTUD2_ENST00000592576.1_Frame_Shift_Ins_p.D831fs	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	841					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)			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)				CAGAGACGCAATCTGCAGGGGC	0.579																																					p.D841fs	Ovarian(10;65 485 10258 29980 30707)	.											.	EFTUD2-91	0			c.2523_2524insGA						.																																			SO:0001589	frameshift_variant	9343	exon25			GACGCAATCTGCA	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.2521_2522dupGA	17.37:g.42930703_42930704dupTC	ENSP00000392094:p.Asp841fs	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	109	43	NM_004247	0	0	0	0	0	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Frame_Shift_Ins	INS	ENST00000426333.2	37	CCDS11489.1																																																																																			.		0.579	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		TC	42930703	-	TC	42930702	7	5	31	1	0	1	1	0	0	0	0	0	4975	98	4	0	411	0	EFTUD2	17	42930702	Frame_Shift_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	83331	42930702	38264508	1968	7520											
KIAA1267	284058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	44117207	44117207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaggcttgttctgccaCtgagatttcagcatgctctg	9	10	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:44117207C>A	ENST00000262419.6	-	8	2534	c.2064G>T	c.(2062-2064)caG>caT	p.Q688H	KANSL1_ENST00000393476.3_Missense_Mutation_p.Q45H|KANSL1_ENST00000574590.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000572904.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000432791.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000575318.1_Missense_Mutation_p.Q688H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	688					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTTCTGCCACTGAGATTTCA	0.473																																					p.Q688H		.											.	.	0			c.G2064T						.						161	153	155					17																	44117207		2203	4300	6503	SO:0001583	missense	284058	exon8			CTGCCACTGAGAT	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2064G>T	17.37:g.44117207C>A	ENSP00000262419:p.Gln688His	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	95	20	NM_001193466	0	0	0	0	0	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677461	0.47886	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.23950	2.69;2.69;1.88	6.05	3.98	0.46160	.	0.177279	0.52532	D	0.000077	T	0.19846	0.0477	L	0.27053	0.805	0.36876	D	0.889179	P;P;P;B	0.37101	0.552;0.552;0.582;0.395	B;B;B;B	0.42593	0.187;0.187;0.134;0.392	T	0.15206	-1.0445	10	0.22706	T	0.39	-10.9468	8.8415	0.35144	0.0:0.7607:0.0:0.2393	.	19;19;688;688	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	H	688;688;45	ENSP00000262419:Q688H;ENSP00000387393:Q688H;ENSP00000377117:Q45H	ENSP00000262419:Q688H	Q	-	3	2	KIAA1267	41473054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.997000	0.29731	0.812000	0.34326	0.650000	0.86243	CAG	.		0.473	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		A	44117207	C	A	44117207	3	1	31	1	0	0	0	0	1	0	0	0	8246	564	20	3	1285	3	KIAA1267	17	44117207	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1186505	44117207	37078003	1969	7521											
WNT3	7473	broad.mit.edu;ucsc.edu	37	chr17	44846126	44846126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagctgcccgacagccCgtggcacttgcatttgaggt	11	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:44846126C>A	ENST00000225512.5	-	4	790	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	210					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|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 fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	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)	p.G210R(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CCCGACAGCCCGTGGCACTTG	0.622																																					p.A210S		.											.	WNT3-522	1	Substitution - Missense(1)	large_intestine(1)	c.G628T						.						70	73	72					17																	44846126		2203	4300	6503	SO:0001583	missense	7473	exon4			ACAGCCCGTGGCA	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.628G>T	17.37:g.44846126C>A	ENSP00000225512:p.Gly210Trp	Somatic	120	2		WXS	Illumina GAIIx	Phase_I	125	22	NM_030753	0	0	0	0	0	Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682326	0.88542	.	.	ENSG00000108379	ENST00000225512	D	0.84589	-1.87	5.16	5.16	0.70880	Secreted growth factor Wnt protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97183	0.9852	10	0.87932	D	0	.	18.8438	0.92196	0.0:1.0:0.0:0.0	.	210	P56703	WNT3_HUMAN	W	210	ENSP00000225512:G210W	ENSP00000225512:G210W	G	-	1	0	WNT3	42201295	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.651000	0.83577	2.676000	0.91093	0.561000	0.74099	GGG	.		0.622	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		A	44846126	C	A	44846126	3	1	31	1	0	0	0	0	1	0	0	0	17437	652	23	2	443	2	WNT3	17	44846126	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	728919	44846126	36349084	1970	7522											
OSBPL7	114881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	45894628	45894628	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccctggatcttacctggtgTgtggggataacaggggctga	15	9	1	1	rs377044941		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:45894628T>A	ENST00000007414.3	-	8	887	c.696A>T	c.(694-696)acA>acT	p.T232T	OSBPL7_ENST00000392507.3_Silent_p.T232T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	232					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TTACCTGGTGTGTGGGGATAA	0.592																																					p.T232T		.											.	OSBPL7-68	0			c.A696T						.						59	55	57					17																	45894628		2203	4300	6503	SO:0001819	synonymous_variant	114881	exon8			CTGGTGTGTGGGG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.696A>T	17.37:g.45894628T>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	33	18	NM_145798	0	0	0	0	0	D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																			.		0.592	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		A	45894628	T	A	45894628	2	1	31	1	0	0	0	0	0	0	0	1	11321	1683	59	5		5	OSBPL7	17	45894628	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1048502	45894628	35300582	1971	7523											
IGF2BP1	10642	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	47121377	47121377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatccccgcccaggcaGtgggcgccatcatcggcaag	12	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:47121377G>T	ENST00000290341.3	+	11	1583	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V278L	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	417	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGCCCAGGCAGTGGGCGCCAT	0.607																																					p.V417L	Esophageal Squamous(198;1041 2123 8248 37119 38268)	.											.	IGF2BP1-226	0			c.G1249T						.						99	89	92					17																	47121377		2203	4300	6503	SO:0001583	missense	10642	exon11			CAGGCAGTGGGCG	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1249G>T	17.37:g.47121377G>T	ENSP00000290341:p.Val417Leu	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	115	56	NM_006546	0	0	0	0	0	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.744994	0.96882	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.36157	1.27;1.27	6.17	6.17	0.99709	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.129869	0.52532	D	0.000075	T	0.69169	0.3081	M	0.91561	3.22	0.80722	D	1	P;D	0.61697	0.704;0.99	P;D	0.65874	0.693;0.939	T	0.74447	-0.3662	10	0.87932	D	0	-23.6754	19.6509	0.95805	0.0:0.0:1.0:0.0	.	278;417	C9JT33;Q9NZI8	.;IF2B1_HUMAN	L	417;278	ENSP00000290341:V417L;ENSP00000389135:V278L	ENSP00000290341:V417L	V	+	1	0	IGF2BP1	44476376	1.000000	0.71417	0.955000	0.39395	0.905000	0.53344	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GTG	.		0.607	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		T	47121377	G	T	47121377	3	4	31	1	0	0	0	0	1	0	0	0	7600	1029	36	3	1291	3	IGF2BP1	17	47121377	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1226749	47121377	34073833	1972	7524											
NGFR	4804	hgsc.bcm.edu	37	chr17	47584004	47584004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagtgcacacgctgggcCgacgccgagtgcgagggtga	18	12	0	1	rs116077510	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:47584004C>T	ENST00000172229.3	+	3	677	c.552C>T	c.(550-552)gcC>gcT	p.A184A	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.A90A	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	184					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACGCTGGGCCGACGCCGAGT	0.716													C|||	171	0.0341454	0.0023	0.0014	5008	,	,		6207	0.0972		0.004	False		,,,				2504	0.0665				p.A184A		.											.	NGFR-947	0			c.C552T						.	C		9,4263		0,9,2127	9	8	8		552	-5	1	17	dbSNP_132	8	36,8334		0,36,4149	no	coding-synonymous	NGFR	NM_002507.3		0,45,6276	TT,TC,CC		0.4301,0.2107,0.356		184/428	47584004	45,12597	2136	4185	6321	SO:0001819	synonymous_variant	4804	exon3			CTGGGCCGACGCC	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.552C>T	17.37:g.47584004C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	63	44	NM_002507	0	0	0	0	0	B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	CCDS11549.1																																																																																			C|0.969;T|0.031		0.716	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			T	47584004	C	T	47584004	2	4	31	1	0	0	0	0	0	0	0	1	10435	639	23	1		1	NGFR	17	47584004	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	462627	47584004	33611206	1973	7525											
DLX3	1747	broad.mit.edu;bcgsc.ca	37	chr17	48068892	48068892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgggtgctcagtacacagCcccagggttgggcgggggcc	18	11	1	0	rs148713638	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48068892C>A	ENST00000434704.2	-	3	1078	c.853G>T	c.(853-855)Gct>Tct	p.A285S	DLX3_ENST00000512495.2_Missense_Mutation_p.A165S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	285					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGTACACAGCCCCAGGGTTG	0.647																																					p.A285S		.											.	DLX3-90	0			c.G853T						.						14	16	15					17																	48068892		2195	4282	6477	SO:0001583	missense	1747	exon3			ACACAGCCCCAGG		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.853G>T	17.37:g.48068892C>A	ENSP00000389870:p.Ala285Ser	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	21	8	NM_005220	0	0	0	0	0	B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236806	0.22711	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91631	-2.88;-2.85	4.76	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	L	0.39633	1.23	0.44136	D	0.996928	B	0.06786	0.001	B	0.08055	0.003	T	0.83277	-0.0040	10	0.66056	D	0.02	-8.9592	8.8525	0.35208	0.0:0.8987:0.0:0.1013	.	285	O60479	DLX3_HUMAN	S	285;165	ENSP00000389870:A285S;ENSP00000449976:A165S	ENSP00000389870:A285S	A	-	1	0	DLX3	45423891	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	4.894000	0.63206	1.256000	0.44068	-0.265000	0.10407	GCT	C|1.000;T|0.000		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			A	48068892	C	A	48068892	3	1	31	1	0	0	0	0	1	0	0	0	4586	739	26	3	14	3	DLX3	17	48068892	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	484888	48068892	33126318	1974	7526											
ITGA3	3675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48154781	48154781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgagaccatcttttgcgaGctggggaaccccttcaaacg	10	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48154781G>T	ENST00000320031.8	+	16	2439	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ITGA3_ENST00000007722.7_Missense_Mutation_p.E703D	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	703					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCTTTTGCGAGCTGGGGAACC	0.592																																					p.E703D		.											.	ITGA3-229	0			c.G2109T						.						106	98	101					17																	48154781		2203	4300	6503	SO:0001583	missense	3675	exon16			TTGCGAGCTGGGG	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2109G>T	17.37:g.48154781G>T	ENSP00000315190:p.Glu703Asp	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	135	25	NM_005501	0	0	0	0	0	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.026515|3.026515	0.54683|0.54683	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000506827|ENST00000007722;ENST00000538917;ENST00000320031	.|T;T	.|0.48836	.|0.8;0.8	5.32|5.32	-1.55|-1.55	0.08558|0.08558	.|Integrin alpha-2 (1);	.|0.148457	.|0.64402	.|N	.|0.000013	T|T	0.40694|0.40694	0.1127|0.1127	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.479	.|P;B	.|0.54312	.|0.748;0.217	T|T	0.55354|0.55354	-0.8154|-0.8154	5|10	.|0.06236	.|T	.|0.91	.|.	5.604|5.604	0.17369|0.17369	0.348:0.2363:0.4157:0.0|0.348:0.2363:0.4157:0.0	.|.	.|703;703	.|P26006-1;P26006	.|.;ITA3_HUMAN	S|D	82|703;689;703	.|ENSP00000007722:E703D;ENSP00000315190:E703D	.|ENSP00000007722:E703D	A|E	+|+	1|3	0|2	ITGA3|ITGA3	45509780|45509780	1.000000|1.000000	0.71417|0.71417	0.717000|0.717000	0.30585|0.30585	0.855000|0.855000	0.48748|0.48748	0.771000|0.771000	0.26633|0.26633	-0.365000|-0.365000	0.08076|0.08076	0.563000|0.563000	0.77884|0.77884	GCT|GAG	.		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		T	48154781	G	T	48154781	3	4	31	1	0	0	0	0	1	0	0	0	7904	962	34	3	2171	3	ITGA3	17	48154781	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	85889	48154781	33040429	1975	7527											
SGCA	6442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48246526	48246526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatcccccgatagccacGcccgctgtgcccagggccag	12	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48246526G>T	ENST00000262018.3	+	6	694	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.A118S|SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	220					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGATAGCCACGCCCGCTGTGC	0.572											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A220S		.											.	SGCA-92	0			c.G658T						.						90	78	82					17																	48246526		2203	4300	6503	SO:0001583	missense	6442	exon6			AGCCACGCCCGCT	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.658G>T	17.37:g.48246526G>T	ENSP00000262018:p.Ala220Ser	Somatic	72	0	953	WXS	Illumina GAIIx	Phase_I	59	28	NM_000023	0	0	0	0	0	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663897	0.47572	.	.	ENSG00000108823	ENST00000262018;ENST00000451235	D;D	0.97710	-4.5;-4.5	5.14	4.1	0.47936	.	0.441318	0.23065	N	0.052324	D	0.95185	0.8439	L	0.47716	1.5	0.20403	N	0.999905	P;P	0.48503	0.911;0.911	P;B	0.45639	0.488;0.402	D	0.88864	0.3328	10	0.13108	T	0.6	-20.82	9.3504	0.38133	0.0:0.1558:0.6837:0.1606	.	118;220	B7Z1L1;Q16586	.;SGCA_HUMAN	S	220;118	ENSP00000262018:A220S;ENSP00000390371:A118S	ENSP00000262018:A220S	A	+	1	0	SGCA	45601525	0.153000	0.22777	0.945000	0.38365	0.865000	0.49528	1.444000	0.35068	2.389000	0.81357	0.462000	0.41574	GCC	.		0.572	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		T	48246526	G	T	48246526	3	4	31	1	0	0	0	0	1	0	0	0	14244	1087	38	2	680	2	SGCA	17	48246526	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	91745	48246526	32948684	1976	7528											
CACNA1G	8913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48677192	48677192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaccccccactggatgGggatgacgccgatgacgagg	15	11	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48677192G>A	ENST00000359106.5	+	17	3662	c.3662G>A	c.(3661-3663)gGg>gAg	p.G1221E	CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1198E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1198E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1221E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1198E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1198E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1198E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1221E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1221					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)	CCACTGGATGGGGATGACGCC	0.672																																					p.G1221E		.											.	CACNA1G-67	0			c.G3662A						.						22	25	24					17																	48677192		2002	4148	6150	SO:0001583	missense	8913	exon17			TGGATGGGGATGA	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.3662G>A	17.37:g.48677192G>A	ENSP00000352011:p.Gly1221Glu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	91	38	NM_001256360	0	0	0	0	0	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	9.638	1.138300	0.21123	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;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;D	0.97114	-3.89;-3.88;-4.06;-3.83;-3.88;-3.89;-3.9;-4.01;-3.97;-3.98;-3.99;-3.85;-3.85;-3.94;-3.86;-3.82;-3.91;-3.86;-3.84;-3.92;-3.88;-3.86;-3.9;-3.85;-3.91;-3.9;-4.25	4.66	2.58	0.30949	.	0.437586	0.24368	N	0.039140	D	0.94925	0.8359	N	0.14661	0.345	0.26560	N	0.973751	D;B;P;D;B;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;P;P	0.89917	1.0;0.008;0.941;1.0;0.038;1.0;1.0;0.021;1.0;0.017;0.038;0.009;0.002;0.038;0.99;0.0;0.65;0.013;0.038;0.01;1.0;0.002;0.038;0.002;0.718;0.762	D;B;P;D;B;D;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B;B	0.91635	0.998;0.009;0.577;0.999;0.013;0.962;0.999;0.013;0.999;0.005;0.01;0.012;0.005;0.01;0.786;0.004;0.244;0.012;0.013;0.005;0.997;0.004;0.01;0.002;0.218;0.425	D	0.88324	0.2964	10	0.11794	T	0.64	.	8.3802	0.32466	0.0788:0.3002:0.6211:0.0	.	1198;1221;1221;1221;1221;1221;1221;1221;1221;1221;1221;1198;1221;1221;1221;1221;1221;1198;1221;1198;1198;1198;1198;1221;1198;1221	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	1198;1198;1221;1198;1198;1198;1221;1221;1198;1221;1221;1221;1221;1221;1221;1198;1221;1221;1221;1221;1198;1221;1221;1221;1221;1221;36	ENSP00000353990:G1198E;ENSP00000339302:G1198E;ENSP00000392390:G1221E;ENSP00000347078:G1198E;ENSP00000409759:G1198E;ENSP00000425522:G1198E;ENSP00000426261:G1221E;ENSP00000425451:G1221E;ENSP00000422407:G1198E;ENSP00000426814:G1221E;ENSP00000427238:G1221E;ENSP00000423112:G1221E;ENSP00000420918:G1221E;ENSP00000426172:G1221E;ENSP00000423045:G1221E;ENSP00000427173:G1198E;ENSP00000426098:G1221E;ENSP00000425698:G1221E;ENSP00000426232:G1221E;ENSP00000423317:G1221E;ENSP00000350979:G1198E;ENSP00000352011:G1221E;ENSP00000414388:G1221E;ENSP00000423155:G1221E;ENSP00000422268:G1221E;ENSP00000421518:G1221E;ENSP00000427697:G36E	ENSP00000339302:G1198E	G	+	2	0	CACNA1G	46032191	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.191000	0.58372	0.522000	0.28464	0.561000	0.74099	GGG	.		0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48677192	G	A	48677192	3	1	31	1	0	0	0	0	1	0	0	0	2551	1232	43	3	3728	3	CACNA1G	17	48677192	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	430666	48677192	32518018	1977	7529											
CACNA1G	8913	bcgsc.ca	37	chr17	48703752	48703752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgccagcgccggccTacgtcctggctggatgagca	14	14	0	2	rs739925	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48703752T>C	ENST00000359106.5	+	38	6774	c.6774T>C	c.(6772-6774)ccT>ccC	p.P2258P	CACNA1G_ENST00000507609.1_Silent_p.P2158P|CACNA1G_ENST00000513689.2_Silent_p.P2168P|CACNA1G_ENST00000358244.5_Silent_p.P2052P|CACNA1G_ENST00000442258.2_Silent_p.P2124P|CACNA1G_ENST00000507336.1_Silent_p.P2247P|CACNA1G_ENST00000510115.1_Silent_p.P2179P|CACNA1G_ENST00000507896.1_Silent_p.P2075P|CACNA1G_ENST00000515165.1_Silent_p.P2165P|CACNA1G_ENST00000429973.2_Silent_p.P2147P|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515411.1_Silent_p.P2195P|CACNA1G_ENST00000515765.1_Silent_p.P2202P|CACNA1G_ENST00000503485.1_Silent_p.P2131P|CACNA1G_ENST00000514079.1_Silent_p.P2172P|CACNA1G_ENST00000352832.5_Silent_p.P2131P|CACNA1G_ENST00000513964.1_Silent_p.P2120P|CACNA1G_ENST00000514717.1_Silent_p.P2108P|CACNA1G_ENST00000360761.4_Silent_p.P2142P|CACNA1G_ENST00000502264.1_Silent_p.P2187P|CACNA1G_ENST00000512389.1_Silent_p.P2154P|CACNA1G_ENST00000354983.4_Silent_p.P2224P|CACNA1G_ENST00000505165.1_Silent_p.P2086P|CACNA1G_ENST00000514181.1_Silent_p.P2140P|CACNA1G_ENST00000507510.2_Silent_p.P2213P|CACNA1G_ENST00000510366.1_Silent_p.P2113P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2258					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)	AGCGCCGGCCTACGTCCTGGC	0.677											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1839	0.367212	0.5393	0.2651	5008	,	,		14167	0.1786		0.4433	False		,,,				2504	0.3231				p.P2258P		.											.	CACNA1G-67	0			c.T6774C						.	C	,,,,,,,,,,,,,	2057,2001		538,981,510	16	21	19		6774,6156,6705,6462,6537,6606,6426,6561,6495,6639,6441,6393,6372,6672	-10.9	0	17	dbSNP_86	19	3608,4724		780,2048,1338	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	1318,3029,1848	CC,CT,TT		43.3029,49.31,45.7224	,,,,,,,,,,,,,	2258/2378,2052/2172,2235/2355,2154/2274,2179/2299,2202/2322,2142/2262,2187/2307,2165/2285,2213/2333,2147/2267,2131/2251,2124/2244,2224/2344	48703752	5665,6725	2029	4166	6195	SO:0001819	synonymous_variant	8913	exon38			CCGGCCTACGTCC	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.6774T>C	17.37:g.48703752T>C		Somatic	147	1	956	WXS	Illumina GAIIx	Phase_I	119	6	NM_018896	0	0	0	0	0	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			T|0.144;G|0.286		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		C	48703752	T	C	48703752	2	2	31	1	0	0	0	0	0	0	0	1	2551	1509	53	4		4	CACNA1G	17	48703752	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	26560	48703752	32491458	1978	7530											
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	51900753	51900753	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgggttgcgatgatccCccagaaaaaccaaacagcct	9	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:51900753C>G	ENST00000268919.4	+	1	515	c.359C>G	c.(358-360)cCc>cGc	p.P120R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGATGATCCCCCAGAAAAAC	0.597																																					p.P120R		.											.	KIF2B-98	0			c.C359G						.						70	73	72					17																	51900753		2203	4300	6503	SO:0001583	missense	84643	exon1			TGATCCCCCAGAA	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.359C>G	17.37:g.51900753C>G	ENSP00000268919:p.Pro120Arg	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	64	36	NM_032559	0	0	0	0	0	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	3.102	-0.184508	0.06340	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	5.11	4.12	0.48240	.	0.000000	0.37623	N	0.002017	T	0.68650	0.3024	L	0.56199	1.76	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.62201	-0.6904	10	0.51188	T	0.08	.	11.6847	0.51479	0.0:0.8216:0.1784:0.0	.	120	Q8N4N8	KIF2B_HUMAN	R	120;43	ENSP00000268919:P120R	ENSP00000268919:P120R	P	+	2	0	KIF2B	49255752	0.035000	0.19736	0.024000	0.17045	0.023000	0.10783	2.532000	0.45659	1.478000	0.48253	0.655000	0.94253	CCC	.		0.597	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		G	51900753	C	G	51900753	3	3	31	1	0	0	0	0	1	0	0	0	8325	623	22	3	361	3	KIF2B	17	51900753	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3197001	51900753	29294457	1979	7531											
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	51900846	51900846	+	Frame_Shift_Del	DEL	G	G	-													gaaaaagtctccctgcctctGggaaatccagaaactgcagg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:51900846delG	ENST00000268919.4	+	1	608	c.452delG	c.(451-453)tggfs	p.W151fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCTGCCTCTGGGAAATCCAG	0.562																																					p.W151fs		.											.	KIF2B-98	0			c.452delG						.						51	56	54					17																	51900846		2202	4299	6501	SO:0001589	frameshift_variant	84643	exon1			GCCTCTGGGAAAT	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.452delG	17.37:g.51900846delG	ENSP00000268919:p.Trp151fs	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	75	29	NM_032559	0	0	0	0	0	Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	CCDS32685.1																																																																																			.		0.562	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		-	51900846	G	-	51900846	7	5	31	1	0	1	0	1	0	0	0	0	8325	1357	47	0	454	0	KIF2B	17	51900846	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	93	51900846	29294364	1980	7532											
TOM1L1	10040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	53014522	53014522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcgacctaagtcccaGtccccggatgcctagggcca	9	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:53014522G>T	ENST00000575882.1	+	10	1321	c.968G>T	c.(967-969)aGt>aTt	p.S323I	TOM1L1_ENST00000348161.4_Missense_Mutation_p.S246I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.S323I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.S316I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.S246I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.S323I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.S211I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.S323I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	323					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTAAGTCCCAGTCCCCGGATG	0.438																																					p.S323I		.											.	TOM1L1-91	0			c.G968T						.						112	114	113					17																	53014522		2203	4300	6503	SO:0001583	missense	10040	exon10			GTCCCAGTCCCCG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.968G>T	17.37:g.53014522G>T	ENSP00000460823:p.Ser323Ile	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	32	14	NM_005486	0	0	0	0	0	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973884	0.34848	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.26373	1.74;1.76;1.77;1.77	5.22	4.23	0.50019	.	0.582843	0.17538	N	0.170640	T	0.18341	0.0440	L	0.27053	0.805	0.25967	N	0.982559	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.002;0.001	T	0.12578	-1.0542	10	0.41790	T	0.15	-0.6567	10.6387	0.45579	0.0:0.0:0.8011:0.1989	.	211;316;246;323;323	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	323;211;246;246	ENSP00000408958:S323I;ENSP00000441242:S211I;ENSP00000343901:S246I;ENSP00000443099:S246I	ENSP00000343901:S246I	S	+	2	0	TOM1L1	50369521	0.047000	0.20315	0.652000	0.29579	0.783000	0.44284	1.253000	0.32886	1.369000	0.46134	0.643000	0.83706	AGT	.		0.438	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		T	53014522	G	T	53014522	3	4	31	1	0	0	0	0	1	0	0	0	16399	1029	36	3	1006	3	TOM1L1	17	53014522	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1113676	53014522	28180688	1981	7533											
NOG	9241	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	54671840	54671840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggccacctcgccccccgagGaccggcccggcgggggcggg	18	18	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:54671840G>T	ENST00000332822.4	+	1	781	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	86					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GCCCCCCGAGGAccggcccgg	0.721																																					p.D86Y		.											.	NOG-90	0			c.G256T						.						13	15	14					17																	54671840		2182	4240	6422	SO:0001583	missense	9241	exon1			CCCGAGGACCGGC	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"synostoses (multiple) syndrome 1", "symphalangism 1 (proximal)"	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.256G>T	17.37:g.54671840G>T	ENSP00000328181:p.Asp86Tyr	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	68	17	NM_005450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332822.4	37	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978490	0.74360	.	.	ENSG00000183691	ENST00000332822	D	0.98617	-5.03	4.12	4.12	0.48240	.	0.179223	0.47093	D	0.000241	D	0.98223	0.9412	M	0.67953	2.075	0.80722	D	1	D	0.62365	0.991	P	0.50314	0.637	D	0.99056	1.0829	10	0.72032	D	0.01	-8.6046	16.9052	0.86124	0.0:0.0:1.0:0.0	.	86	Q13253	NOGG_HUMAN	Y	86	ENSP00000328181:D86Y	ENSP00000328181:D86Y	D	+	1	0	NOG	52026839	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.191000	0.94940	2.265000	0.75225	0.563000	0.77884	GAC	.		0.721	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		T	54671840	G	T	54671840	3	4	31	1	0	0	0	0	1	0	0	0	10558	1174	41	3	258	3	NOG	17	54671840	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1657318	54671840	26523370	1982	7534											
LPO	4025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56326518	56326518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccttaccgcaccatTacgggagactgcaataacag	9	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56326518T>C	ENST00000262290.4	+	5	739	c.423T>C	c.(421-423)atT>atC	p.I141I	LPO_ENST00000582328.1_Silent_p.I58I|LPO_ENST00000421678.2_Silent_p.I58I|LPO_ENST00000543544.1_Silent_p.I82I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	141					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						ACCGCACCATTACGGGAGACT	0.642																																					p.I141I		.											.	LPO-91	0			c.T423C						.						82	70	74					17																	56326518		2203	4300	6503	SO:0001819	synonymous_variant	4025	exon5			CACCATTACGGGA	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.423T>C	17.37:g.56326518T>C		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	69	18	NM_006151	0	0	0	0	0	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																			.		0.642	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			C	56326518	T	C	56326518	2	2	31	1	0	0	0	0	0	0	0	1	8957	1742	61	4		4	LPO	17	56326518	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1654678	56326518	24868692	1983	7535											
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56570286	56570286	+	Missense_Mutation	SNP	C	C	A													agagccaaaatcctcagtatCactgccatctgactccttca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56570286C>A	ENST00000323456.5	-	17	3362	c.3238G>T	c.(3238-3240)Gat>Tat	p.D1080Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D1023Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1080					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGTATCACTGCCATCT	0.413																																					p.D1080Y		.											.	MTMR4-91	0			c.G3238T						.						159	129	139					17																	56570286		2203	4300	6503	SO:0001583	missense	9110	exon17			CAGTATCACTGCC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3238G>T	17.37:g.56570286C>A	ENSP00000325285:p.Asp1080Tyr	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	213	33	NM_004687	0	0	0	0	0	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383850	0.61845	.	.	ENSG00000108389	ENST00000323456	D	0.93659	-3.26	5.93	5.93	0.95920	.	0.095493	0.64402	D	0.000001	D	0.93032	0.7782	L	0.38531	1.155	0.38037	D	0.935342	D	0.62365	0.991	P	0.55161	0.77	D	0.90602	0.4545	10	0.14252	T	0.57	.	19.3319	0.94293	0.0:1.0:0.0:0.0	.	1080	Q9NYA4	MTMR4_HUMAN	Y	1080	ENSP00000325285:D1080Y	ENSP00000325285:D1080Y	D	-	1	0	MTMR4	53925285	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.430000	0.52807	2.821000	0.97095	0.555000	0.69702	GAT	.		0.413	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		A	56570286	C	A	56570286	3	1	31	1	0	0	0	0	1	0	0	0	9984	826	29	3	361	3	MTMR4	17	56570286	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	243768	56570286	24624924	1984	7536	62	2									
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56570288	56570288	+	Missense_Mutation	SNP	C	C	A													agccaaaatcctcagtatcaCtgccatctgactccttcaaa							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56570288C>A	ENST00000323456.5	-	17	3360	c.3236G>T	c.(3235-3237)aGt>aTt	p.S1079I	MTMR4_ENST00000579925.1_Missense_Mutation_p.S1022I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1079					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAGTATCACTGCCATCTGA	0.418																																					p.S1079I		.											.	MTMR4-91	0			c.G3236T						.						156	126	136					17																	56570288		2203	4300	6503	SO:0001583	missense	9110	exon17			GTATCACTGCCAT	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3236G>T	17.37:g.56570288C>A	ENSP00000325285:p.Ser1079Ile	Somatic	263	0		WXS	Illumina GAIIx	Phase_I	209	33	NM_004687	0	0	0	0	0	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136877	0.77662	.	.	ENSG00000108389	ENST00000323456	D	0.94376	-3.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	L	0.53249	1.67	0.44067	D	0.996817	D	0.76494	0.999	D	0.66196	0.942	D	0.95679	0.8730	10	0.87932	D	0	.	19.3319	0.94293	0.0:1.0:0.0:0.0	.	1079	Q9NYA4	MTMR4_HUMAN	I	1079	ENSP00000325285:S1079I	ENSP00000325285:S1079I	S	-	2	0	MTMR4	53925287	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.528000	0.67129	2.821000	0.97095	0.555000	0.69702	AGT	.		0.418	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		A	56570288	C	A	56570288	3	1	31	1	0	0	0	0	1	0	0	0	9984	565	20	3	363	3	MTMR4	17	56570288	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2	56570288	24624922	1985	7537	62	2									
SEPT4	5414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56598641	56598641	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgatgccccaggggtagagtCgaccccgaactcgccgccct	12	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56598641C>G	ENST00000317268.3	-	9	1264	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P	SEPT4_ENST00000317256.6_Missense_Mutation_p.R344P|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Missense_Mutation_p.R264P|SEPT4_ENST00000580844.1_Missense_Mutation_p.R264P|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000393086.1_Missense_Mutation_p.R344P|SEPT4_ENST00000412945.3_Missense_Mutation_p.R355P|SEPT4_ENST00000583114.1_Missense_Mutation_p.R216P|SEPT4_ENST00000457347.2_Missense_Mutation_p.R378P	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	363	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTAGAGTCGACCCCGAAC	0.582											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R378P		.											.	SEPT4-68	0			c.G1133C						.						77	68	71					17																	56598641		2203	4300	6503	SO:0001583	missense	5414	exon10			TAGAGTCGACCCC	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1088G>C	17.37:g.56598641C>G	ENSP00000321674:p.Arg363Pro	Somatic	160	0	1016	WXS	Illumina GAIIx	Phase_I	138	33	NM_001256782	0	0	0	0	0	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090078	0.36855	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.958;1.0	D;D;D;P;D	0.97110	1.0;0.999;1.0;0.751;1.0	D	0.91798	0.5449	10	0.87932	D	0	.	17.2516	0.87044	0.0:1.0:0.0:0.0	.	355;378;344;216;363	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	P	355;377;344;363;344	ENSP00000414779:R355P;ENSP00000321071:R344P;ENSP00000321674:R363P;ENSP00000376801:R344P	ENSP00000321071:R344P	R	-	2	0	SEPT4	53953640	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	CGA	.		0.582	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		G	56598641	C	G	56598641	3	3	31	1	0	0	0	0	1	0	0	0	14111	884	31	2	364	2	SEPT4	17	56598641	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	28353	56598641	24596569	1986	7538											
TEX14	56155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56676889	56676889	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggggctgctggccTcttctgccataaatggagca	13	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56676889T>A	ENST00000240361.8	-	14	1920	c.1835A>T	c.(1834-1836)gAg>gTg	p.E612V	TEX14_ENST00000349033.5_Missense_Mutation_p.E606V|TEX14_ENST00000389934.3_Missense_Mutation_p.E606V			Q8IWB6	TEX14_HUMAN	testis expressed 14	612					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)					GCTGCTGGCCTCTTCTGCCAT	0.527																																					p.E612V		.											.	TEX14-810	0			c.A1835T						.						51	52	52					17																	56676889		2203	4300	6503	SO:0001583	missense	56155	exon14			CTGGCCTCTTCTG	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.1835A>T	17.37:g.56676889T>A	ENSP00000240361:p.Glu612Val	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	105	51	NM_001201457	0	0	0	0	0	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406106	0.83230	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80033	-1.33;-1.33;-1.28	5.61	3.28	0.37604	.	0.345909	0.22367	N	0.060989	T	0.74680	0.3748	L	0.27053	0.805	0.09310	N	1	B;D;D	0.57899	0.084;0.981;0.981	B;P;P	0.56474	0.028;0.799;0.799	T	0.63928	-0.6526	10	0.48119	T	0.1	-1.7071	2.717	0.05190	0.4043:0.1228:0.0:0.4729	.	612;606;606	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	612;606;606	ENSP00000240361:E612V;ENSP00000374584:E606V;ENSP00000268910:E606V	ENSP00000240361:E612V	E	-	2	0	TEX14	54031888	0.001000	0.12720	0.218000	0.23776	0.787000	0.44495	0.428000	0.21395	0.933000	0.37291	-0.333000	0.08304	GAG	.		0.527	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			A	56676889	T	A	56676889	3	1	31	1	0	0	0	0	1	0	0	0	15825	1551	54	5	2738	5	TEX14	17	56676889	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	78248	56676889	24518321	1987	7539											
HEATR6	63897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	58137396	58137396	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactggtatcttcagcaacaGaaagaaactgctttgagcct	8	10	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:58137396G>C	ENST00000184956.6	-	10	1494	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S493C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	493							poly(A) RNA binding (GO:0044822)	p.S493C(2)		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)			TTCAGCAACAGAAAGAAACTG	0.433																																					p.S493C		.											.	HEATR6-227	2	Substitution - Missense(2)	kidney(2)	c.C1478G						.						141	138	139					17																	58137396		2203	4300	6503	SO:0001583	missense	63897	exon10			GCAACAGAAAGAA	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.1478C>G	17.37:g.58137396G>C	ENSP00000184956:p.Ser493Cys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	95	15	NM_022070	0	0	0	0	0	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083543	0.55861	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.68	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.052110	0.85682	D	0.000000	T	0.65852	0.2731	L	0.58101	1.795	0.52099	D	0.999948	B;B	0.22541	0.071;0.009	B;B	0.26202	0.067;0.017	T	0.65327	-0.6195	10	0.54805	T	0.06	-8.888	16.3064	0.82849	0.0:0.1321:0.8679:0.0	.	340;493	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	493;340	ENSP00000184956:S493C	ENSP00000184956:S493C	S	-	2	0	HEATR6	55492178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	1.556000	0.49512	0.558000	0.71614	TCT	.		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		C	58137396	G	C	58137396	3	2	31	1	0	0	0	0	1	0	0	0	7060	942	33	3	2111	3	HEATR6	17	58137396	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1460507	58137396	23057814	1988	7540											
NACA2	342538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	59668146	59668146	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgctagttgtgcttgctgAgataaatcttggatcttggc	12	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:59668146A>T	ENST00000521764.1	-	1	417	c.396T>A	c.(394-396)tcT>tcA	p.S132S		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	132	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTGCTTGCTGAGATAAATCTT	0.443																																					p.S132S		.											.	NACA2-91	0			c.T396A						.						164	162	163					17																	59668146		2203	4300	6503	SO:0001819	synonymous_variant	342538	exon1			TTGCTGAGATAAA	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.396T>A	17.37:g.59668146A>T		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	120	75	NM_199290	0	0	0	0	0	Q2VIR9	Silent	SNP	ENST00000521764.1	37	CCDS11630.1																																																																																			.		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		T	59668146	A	T	59668146	2	4	31	1	0	0	0	0	0	0	0	1	10172	291	11	5		5	NACA2	17	59668146	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1530750	59668146	21527064	1989	7541											
EFCAB3	146779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	60484029	60484029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttaaatttcttgaagagcTcaagagtaagagccatttgt	8	5	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:60484029T>A	ENST00000305286.3	+	7	755	c.677T>A	c.(676-678)cTc>cAc	p.L226H	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L278H	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	226							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CTTGAAGAGCTCAAGAGTAAG	0.388																																					p.L278H		.											.	EFCAB3-227	0			c.T833A						.						40	41	41					17																	60484029		2203	4300	6503	SO:0001583	missense	146779	exon9			AAGAGCTCAAGAG	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.677T>A	17.37:g.60484029T>A	ENSP00000302649:p.Leu226His	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	64	24	NM_001144933	0	0	0	0	0	J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756642	0.69648	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.73575	-0.76;-0.72	5.34	5.34	0.76211	.	0.000000	0.53938	D	0.000045	D	0.82710	0.5096	M	0.75777	2.31	0.37962	D	0.933001	D	0.71674	0.998	P	0.60236	0.871	D	0.86583	0.1855	10	0.87932	D	0	.	11.6282	0.51158	0.0:0.0:0.0:1.0	.	226	Q8N7B9	EFCB3_HUMAN	H	278;226	ENSP00000403932:L278H;ENSP00000302649:L226H	ENSP00000302649:L226H	L	+	2	0	EFCAB3	57837761	0.995000	0.38212	1.000000	0.80357	0.873000	0.50193	4.035000	0.57297	2.244000	0.73946	0.477000	0.44152	CTC	.		0.388	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		A	60484029	T	A	60484029	3	1	31	1	0	0	0	0	1	0	0	0	4949	1551	54	5	867	5	EFCAB3	17	60484029	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	815883	60484029	20711181	1990	7542											
FTSJ3	5705	bcgsc.ca	37	chr17	61903965	61903965	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtccagcaaggctcgGgctttctgcaggaactgaaa	12	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:61903965G>T	ENST00000310144.6	+	0	0				PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.A45A|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAAGGCTCGGGCTTTCTGCA	0.572																																					p.A45A		.											.	FTSJ3-91	0			c.C135A						.						53	52	52					17																	61903965		2203	4300	6503	SO:0001631	upstream_gene_variant	117246	exon3			GGCTCGGGCTTTC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903965G>T	Exception_encountered	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	55	4	NM_017647	0	0	0	0	0	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			.		0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		T	61903965	G	T	61903965	1	4	31	0	1	0	0	0	0	0	0	0	6113	1219	43	3		3	FTSJ3	17	61903965	5'Flank	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1419936	61903965	19291245	1991	7543											
GH2	2689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	61958131	61958131	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccctggtgccaccctcaCccacatcagcgtttggatgc	9	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:61958131C>A	ENST00000423893.2	-	4	518		c.e4+1		GH2_ENST00000332800.7_Missense_Mutation_p.V153L|GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Splice_Site			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCCACCCTCACCCACATCAGC	0.607																																					p.V153L		.											.	GH2-93	0			c.G457T						.						87	86	86					17																	61958131		2203	4300	6503	SO:0001630	splice_region_variant	2689	exon4			CCCTCACCCACAT	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+1G>T	17.37:g.61958131C>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	163	32	NM_022557	0	0	0	0	0	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	8.166|8.166	0.790525|0.790525	0.16258|0.16258	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000332800	.|T	.|0.41758	.|0.99	2.94|2.94	2.94|2.94	0.34122|0.34122	.|.	.|0.696300	.|0.13403	.|N	.|0.390464	.|T	.|0.60301	.|0.2258	.|.	.|.	.|.	0.28078|0.28078	N|N	0.932315|0.932315	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	.|T	.|0.51276	.|-0.8726	.|9	.|0.52906	.|T	.|0.07	.|.	11.7079|11.7079	0.51607|0.51607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|153	.|B1A4H7	.|.	.|L	-1|153	.|ENSP00000333157:V153L	.|ENSP00000333157:V153L	.|V	-|-	.|1	.|0	GH2|GH2	59311863|59311863	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.091000|0.091000	0.18340|0.18340	5.105000|5.105000	0.64591|0.64591	1.644000|1.644000	0.50603|0.50603	0.306000|0.306000	0.20318|0.20318	.|GTG	.		0.607	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	Intron	A	61958131	C	A	61958131	5	1	31	1	0	0	0	0	0	0	1	0	6394	521	18	3	541	3	GH2	17	61958131	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	54166	61958131	19237079	1992	7544											
ABCA6	23460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	67094069	67094069	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttttcttaccttgtaatCactgatgctgcccatggtga	8	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:67094069C>A	ENST00000284425.2	-	23	3286	c.3112G>T	c.(3112-3114)Gat>Tat	p.D1038Y	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1038					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)					ACCTTGTAATCACTGATGCTG	0.368																																					p.D1038Y		.											.	ABCA6-159	0			c.G3112T						.						57	52	54					17																	67094069		2203	4300	6503	SO:0001583	missense	23460	exon23			TGTAATCACTGAT	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.3112G>T	17.37:g.67094069C>A	ENSP00000284425:p.Asp1038Tyr	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_080284	0	0	0	0	0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464089	0.63513	.	.	ENSG00000154262	ENST00000284425	D	0.87729	-2.29	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000052	D	0.93776	0.8010	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	10	0.87932	D	0	.	13.8152	0.63287	0.0:1.0:0.0:0.0	.	1038	Q8N139	ABCA6_HUMAN	Y	1038	ENSP00000284425:D1038Y	ENSP00000284425:D1038Y	D	-	1	0	ABCA6	64605664	0.988000	0.35896	0.989000	0.46669	0.860000	0.49131	3.587000	0.53957	2.717000	0.92951	0.557000	0.71058	GAT	.		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		A	67094069	C	A	67094069	3	1	31	1	0	0	0	0	1	0	0	0	36	826	29	3	1809	3	ABCA6	17	67094069	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5135938	67094069	14101141	1993	7545											
ABCA5	23461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	67285343	67285344	+	Missense_Mutation	DNP	CC	CC	AG													ggttcccaagaacagcaattCctaatgacagctttcttttt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:67285343_67285344CC>AG	ENST00000392676.3	-	14	1940_1941	c.1876_1877GG>CT	c.(1876-1878)GGa>CTa	p.G626L	ABCA5_ENST00000588877.1_Missense_Mutation_p.G626L|ABCA5_ENST00000392677.2_Missense_Mutation_p.G626L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	626	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AACAGCAATTCCTAATGACAGC	0.317																																					p.G626L		.											.	ABCA5-93	0			c.G1876C						.																																			SO:0001583	missense	23461	exon13			CAATTCCTAATGA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1876_1877delinsAG	17.37:g.67285343_67285344delinsAG	ENSP00000376443:p.Gly626Leu	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	33	0	NM_018672	0	0	0	0	0	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	DNP	ENST00000392676.3	37	CCDS11685.1																																																																																			.		0.317	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		AG	67285344	CC	AG	67285343	3	1	31	1	0	0	0	0	1	0	0	0	35	855	30	3	3155	3	ABCA5	17	67285343	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	191274	67285343	13909867	1994	7546											
KCNJ2	3759	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	68171793	68171793	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgccgtgattgccatgagaGacggcaagctgtgtttgatg	14	7	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:68171793G>T	ENST00000243457.3	+	2	996	c.613G>T	c.(613-615)Gac>Tac	p.D205Y	KCNJ2_ENST00000535240.1_Missense_Mutation_p.D205Y	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	205					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGCCATGAGAGACGGCAAGCT	0.493																																					p.D205Y		.											.	KCNJ2-90	0			c.G613T						.						129	106	114					17																	68171793		2203	4300	6503	SO:0001583	missense	3759	exon2			ATGAGAGACGGCA	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.613G>T	17.37:g.68171793G>T	ENSP00000243457:p.Asp205Tyr	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	189	95	NM_000891	0	0	0	0	0	O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339041	0.41398	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93366	-3.21;-3.21	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98860	1.0762	9	.	.	.	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	205	P63252	IRK2_HUMAN	Y	205	ENSP00000441848:D205Y;ENSP00000243457:D205Y	.	D	+	1	0	KCNJ2	65683388	1.000000	0.71417	0.795000	0.32087	0.119000	0.20118	9.869000	0.99810	2.718000	0.92993	0.655000	0.94253	GAC	.		0.493	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		T	68171793	G	T	68171793	3	4	31	1	0	0	0	0	1	0	0	0	8078	942	33	3	615	3	KCNJ2	17	68171793	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	886450	68171793	13023417	1995	7547											
SDK2	54549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	71334923	71334923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgtggtctggctcacCcgagtcgctctccgtgtagc	15	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:71334923C>A	ENST00000392650.3	-	45	6322	c.6322G>T	c.(6322-6324)Ggt>Tgt	p.G2108C	SDK2_ENST00000388726.3_Missense_Mutation_p.G2089C|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2108					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						TCTGGCTCACCCGAGTCGCTC	0.632																																					p.G2108C		.											.	SDK2-24	0			c.G6322T						.						153	120	132					17																	71334923		2203	4300	6503	SO:0001583	missense	54549	exon45			GCTCACCCGAGTC	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.6322G>T	17.37:g.71334923C>A	ENSP00000376421:p.Gly2108Cys	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	174	41	NM_001144952	0	0	0	0	0	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448178	0.84101	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.60299	0.2;0.22;1.48	4.71	4.71	0.59529	.	0.060978	0.64402	D	0.000004	T	0.63450	0.2512	L	0.34521	1.04	0.58432	D	0.999998	P;D	0.58268	0.939;0.982	P;P	0.58013	0.571;0.831	T	0.68390	-0.5421	10	0.72032	D	0.01	.	17.3033	0.87188	0.0:1.0:0.0:0.0	.	2108;2089	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	C	1732;2108;2089;1265;2108;449	ENSP00000376421:G2108C;ENSP00000373378:G2089C;ENSP00000407098:G1265C	ENSP00000324967:G2108C	G	-	1	0	SDK2	68846518	0.998000	0.40836	0.712000	0.30502	0.720000	0.41350	5.869000	0.69613	2.168000	0.68352	0.650000	0.86243	GGT	.		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71334923	C	A	71334923	3	1	31	1	0	0	0	0	1	0	0	0	14014	623	22	3	200	3	SDK2	17	71334923	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3163130	71334923	9860287	1996	7548											
GPR142	350383	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72368353	72368353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctggtcaccaactcgGccatcatccaccggctacgg	9	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72368353G>T	ENST00000335666.4	+	4	1051	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	335						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACCAACTCGGCCATCATCCA	0.612																																					p.A335S		.											.	GPR142-93	0			c.G1003T						.						134	99	111					17																	72368353		2203	4300	6503	SO:0001583	missense	350383	exon4			AACTCGGCCATCA	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1003G>T	17.37:g.72368353G>T	ENSP00000335158:p.Ala335Ser	Somatic	170	2		WXS	Illumina GAIIx	Phase_I	205	82	NM_181790	0	0	0	0	0	A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505723	0.44558	.	.	ENSG00000257008	ENST00000335666	T	0.36878	1.23	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.290085	0.34223	N	0.004149	T	0.44477	0.1295	L	0.40543	1.245	0.29848	N	0.82869	D;D	0.59357	0.959;0.985	P;P	0.57425	0.629;0.82	T	0.41448	-0.9508	10	0.62326	D	0.03	-18.543	12.9142	0.58197	0.083:0.0:0.917:0.0	.	335;1297	Q7Z601;Q8NGB0	GP142_HUMAN;.	S	335	ENSP00000335158:A335S	ENSP00000335158:A335S	A	+	1	0	GPR142	69879948	0.184000	0.23200	0.940000	0.37924	0.717000	0.41224	0.563000	0.23547	2.524000	0.85096	0.556000	0.70494	GCC	.		0.612	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		T	72368353	G	T	72368353	3	4	31	1	0	0	0	0	1	0	0	0	6676	1203	42	3	1017	3	GPR142	17	72368353	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1033430	72368353	8826857	1997	7549											
CD300LB	124599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72522169	72522169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattgaaccgtcagggaccCctgctctggggctctcacag	12	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72522169C>A	ENST00000392621.1	-	2	203	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	CD300LB_ENST00000314401.3_Missense_Mutation_p.G67W	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	30	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGGGACCCCTGCTCTGGG	0.547																																					p.G67W		.											.	CD300LB-91	0			c.G199T						.						125	121	122					17																	72522169		2203	4300	6503	SO:0001583	missense	124599	exon2			GGGACCCCTGCTC	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.199G>T	17.37:g.72522169C>A	ENSP00000376397:p.Gly67Trp	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	81	43	NM_174892	0	0	0	0	0	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863145	0.17250	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.05139	3.49	5.05	4.06	0.47325	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.888069	0.09449	N	0.800728	T	0.37461	0.1004	H	0.95884	3.735	0.09310	N	1	D;D	0.89917	0.998;1.0	D;D	0.72075	0.962;0.976	T	0.29941	-0.9995	10	0.87932	D	0	-24.1255	12.0486	0.53493	0.0:0.9089:0.0:0.0911	.	67;30	B4DQ71;A8K4G0	.;CLM7_HUMAN	W	30;67	ENSP00000317337:G67W	ENSP00000317337:G67W	G	-	1	0	CD300LB	70033764	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	0.945000	0.29056	2.495000	0.84180	0.563000	0.77884	GGG	.		0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		A	72522169	C	A	72522169	3	1	31	1	0	0	0	0	1	0	0	0	3006	623	22	3	529	3	CD300LB	17	72522169	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	153816	72522169	8673041	1998	7550											
CD300E	342510	ucsc.edu;bcgsc.ca	37	chr17	72613500	72613500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtactgtcctcggcaccAgtacttgttatatcccttgt	8	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72613500A>G	ENST00000328630.3	-	2	185	c.145T>C	c.(145-147)Tgg>Cgg	p.W49R	CD300E_ENST00000426295.2_Missense_Mutation_p.W90R|CD300E_ENST00000392619.1_Missense_Mutation_p.W76R			Q496F6	CLM2_HUMAN	CD300e molecule	49	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTCGGCACCAGTACTTGTTA	0.552																																					p.W49R		.											.	CD300E-156	0			c.T145C						.						193	125	148					17																	72613500		2203	4300	6503	SO:0001583	missense	342510	exon2			GGCACCAGTACTT	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.145T>C	17.37:g.72613500A>G	ENSP00000329942:p.Trp49Arg	Somatic	143	2		WXS	Illumina GAIIx	Phase_I	123	56	NM_181449	0	0	0	0	0	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121400	0.37436	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.78	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000523	D	0.97306	0.9119	H	0.94462	3.54	0.36320	D	0.858207	D	0.89917	1.0	D	0.97110	1.0	D	0.99942	1.1419	10	0.87932	D	0	-11.4777	11.2599	0.49076	1.0:0.0:0.0:0.0	.	49	Q496F6	CLM2_HUMAN	R	76;90;49;51	ENSP00000376395:W76R;ENSP00000416642:W90R;ENSP00000329942:W49R;ENSP00000415488:W51R	ENSP00000329942:W49R	W	-	1	0	CD300E	70125095	1.000000	0.71417	0.979000	0.43373	0.005000	0.04900	4.677000	0.61634	2.096000	0.63516	0.482000	0.46254	TGG	.		0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		G	72613500	A	G	72613500	3	3	31	1	0	0	0	0	1	0	0	0	3005	188	7	4	484	4	CD300E	17	72613500	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	91331	72613500	8581710	1999	7551											
RAB37	326624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72725483	72725483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccccggctccttctcggCcactgtgggcatcggattca	10	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72725483C>T	ENST00000340415.3	+	2	1170	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RAB37_ENST00000402449.4_Missense_Mutation_p.A54V	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	61					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.A54V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCCTTCTCGGCCACTGTGGGC	0.602																																					p.A54V		.											.	RAB37-230	2	Substitution - Missense(2)	lung(2)	c.C161T						.						169	139	149					17																	72725483		2203	4300	6503	SO:0001583	missense	326624	exon2			TCTCGGCCACTGT	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.161C>T	17.37:g.72725483C>T	ENSP00000341354:p.Ala54Val	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	183	35	NM_175738	0	0	0	0	0	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000340415.3	37		.	.	.	.	.	.	.	.	.	.	c	35	5.445352	0.96187	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	T;T	0.80653	-1.4;-1.4	5.27	5.27	0.74061	.	.	.	.	.	T	0.80576	0.4649	N	0.25426	0.745	0.80722	D	1	P;P;D	0.59767	0.866;0.74;0.986	P;P;P	0.54856	0.517;0.513;0.762	D	0.83488	0.0068	9	0.87932	D	0	.	16.752	0.85488	0.0:1.0:0.0:0.0	.	54;54;54	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	V	54	ENSP00000341354:A54V;ENSP00000383934:A54V	ENSP00000341354:A54V	A	+	2	0	RAB37	70237078	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.100000	0.76989	2.503000	0.84419	0.639000	0.83563	GCC	.		0.602	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		T	72725483	C	T	72725483	3	4	31	1	0	0	0	0	1	0	0	0	12972	739	26	3	167	3	RAB37	17	72725483	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	111983	72725483	8469727	2000	7552											
FADS6	283985	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	72875688	72875688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgacggggcttgttgtccCgggagaacatgggcagtccg	16	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72875688C>A	ENST00000310226.6	-	5	766	c.752G>T	c.(751-753)cGg>cTg	p.R251L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	257					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CTTGTTGTCCCGGGAGAACAT	0.652																																					p.R251L		.											.	FADS6-22	0			c.G752T						.						37	41	40					17																	72875688		2065	4198	6263	SO:0001583	missense	283985	exon5			TTGTCCCGGGAGA	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.752G>T	17.37:g.72875688C>A	ENSP00000307821:p.Arg251Leu	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	178	46	NM_178128	0	0	0	0	0	Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045700	0.36085	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.19394	2.15	5.27	-10.5	0.00291	Fatty acid desaturase, type 1 (1);	0.852056	0.10045	N	0.722962	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20273	-1.0280	10	0.29301	T	0.29	-3.2592	3.4696	0.07562	0.2925:0.1167:0.4413:0.1495	.	105;257	B4DEP0;Q8N9I5	.;FADS6_HUMAN	L	251;105	ENSP00000307821:R251L	ENSP00000307821:R251L	R	-	2	0	FADS6	70387283	0.000000	0.05858	0.374000	0.26016	0.685000	0.39939	-0.354000	0.07681	-1.728000	0.01366	0.655000	0.94253	CGG	.		0.652	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			A	72875688	C	A	72875688	3	1	31	1	0	0	0	0	1	0	0	0	5387	652	23	2	308	2	FADS6	17	72875688	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	150205	72875688	8319522	2001	7553											
OTOP2	92736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72926856	72926856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgctgatgggtgccGccctgggtcagtacgccatc	14	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72926856G>C	ENST00000580223.1	+	5	1156	c.1126G>C	c.(1126-1128)Gcc>Ccc	p.A376P	OTOP2_ENST00000331427.4_Missense_Mutation_p.A376P			Q7RTS6	OTOP2_HUMAN	otopetrin 2	376						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GATGGGTGCCGCCCTGGGTCA	0.637																																					p.A376P		.											.	OTOP2-134	0			c.G1126C						.						76	67	70					17																	72926856		2203	4300	6503	SO:0001583	missense	92736	exon6			GGTGCCGCCCTGG	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1126G>C	17.37:g.72926856G>C	ENSP00000463837:p.Ala376Pro	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	179	42	NM_178160	0	0	0	0	0		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449374	0.84101	.	.	ENSG00000183034	ENST00000331427	T	0.25250	1.81	5.47	5.47	0.80525	.	0.062767	0.64402	D	0.000003	T	0.54532	0.1864	M	0.79011	2.435	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.52170	-0.8611	10	0.40728	T	0.16	-18.7953	19.3792	0.94525	0.0:0.0:1.0:0.0	.	376	Q7RTS6	OTOP2_HUMAN	P	376	ENSP00000332528:A376P	ENSP00000332528:A376P	A	+	1	0	OTOP2	70438451	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	6.164000	0.71885	2.581000	0.87130	0.456000	0.33151	GCC	.		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		C	72926856	G	C	72926856	3	2	31	1	0	0	0	0	1	0	0	0	11345	1087	38	2	1144	2	OTOP2	17	72926856	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	51168	72926856	8268354	2002	7554											
SLC16A5	9121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73096274	73096274	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggctggaggggtaccttCcttgtcttcggcgggatctt	15	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:73096274C>T	ENST00000450736.2	+	4	931	c.516C>T	c.(514-516)ttC>ttT	p.F172F	SLC16A5_ENST00000538213.2_Silent_p.F212F|SLC16A5_ENST00000329783.4_Silent_p.F172F|SLC16A5_ENST00000580123.1_Silent_p.F172F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	172					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGGTACCTTCCTTGTCTTCG	0.642																																					p.F172F		.											.	SLC16A5-90	0			c.C516T						.						50	50	50					17																	73096274		2203	4300	6503	SO:0001819	synonymous_variant	9121	exon5			TACCTTCCTTGTC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.516C>T	17.37:g.73096274C>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	139	61	NM_001271765	0	0	0	0	0	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																			.		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		T	73096274	C	T	73096274	2	4	31	1	0	0	0	0	0	0	0	1	14456	854	30	3		3	SLC16A5	17	73096274	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	169418	73096274	8098936	2003	7555											
TRIM47	91107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73871533	73871533	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccaagaggttcgtactctcGaggtcttggggctcagcatc	12	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:73871533G>C	ENST00000254816.2	-	5	1250	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.L170L	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	408						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGTACTCTCGAGGTCTTGGG	0.592																																					p.L408L		.											.	TRIM47-659	0			c.C1224G						.						81	75	77					17																	73871533		2203	4300	6503	SO:0001819	synonymous_variant	91107	exon5			ACTCTCGAGGTCT	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1224C>G	17.37:g.73871533G>C		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	95	34	NM_033452	0	0	0	0	0	Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	CCDS32737.1																																																																																			.		0.592	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			C	73871533	G	C	73871533	2	2	31	1	0	0	0	0	0	0	0	1	16570	1045	37	2		2	TRIM47	17	73871533	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	775259	73871533	7323677	2004	7556											
UBE2O	63893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	74392628	74392628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagccttctccatcagcCcggccatgggggcagccatg	12	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:74392628C>A	ENST00000319380.7	-	14	2454	c.2390G>T	c.(2389-2391)gGg>gTg	p.G797V	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	797					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTCCATCAGCCCGGCCATGGG	0.632																																					p.G797V		.											.	UBE2O-272	0			c.G2390T						.						81	94	90					17																	74392628		2203	4300	6503	SO:0001583	missense	63893	exon14			ATCAGCCCGGCCA	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2390G>T	17.37:g.74392628C>A	ENSP00000323687:p.Gly797Val	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	46	15	NM_022066	0	0	0	0	0	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115798	0.37339	.	.	ENSG00000175931	ENST00000319380	T	0.73897	-0.79	4.79	4.79	0.61399	.	0.505505	0.20565	N	0.089840	T	0.54078	0.1836	N	0.14661	0.345	0.48762	D	0.999709	B	0.15141	0.012	B	0.12837	0.008	T	0.54938	-0.8218	10	0.59425	D	0.04	.	4.7397	0.13007	0.2091:0.6561:0.0:0.1348	.	797	Q9C0C9	UBE2O_HUMAN	V	797	ENSP00000323687:G797V	ENSP00000323687:G797V	G	-	2	0	UBE2O	71904223	0.981000	0.34729	1.000000	0.80357	0.960000	0.62799	0.902000	0.28459	2.206000	0.71126	0.462000	0.41574	GGG	.		0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74392628	C	A	74392628	3	1	31	1	0	0	0	0	1	0	0	0	16917	623	22	3	1508	3	UBE2O	17	74392628	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	521095	74392628	6802582	2005	7557											
CBX4	8535	broad.mit.edu	37	chr17	77807925	77807925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggtgccgctgccgccgCcaccgccaccgccgccgacg	15	20	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:77807925C>A	ENST00000269397.4	-	5	1693	c.1516G>T	c.(1516-1518)Gcg>Tcg	p.A506S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	506	Interaction with BMI1.|Poly-Ala.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			gctgccgccgccaccgccacc	0.701																																					p.A506S		.											.	CBX4-228	0			c.G1516T						.						15	21	19					17																	77807925		1800	3727	5527	SO:0001583	missense	8535	exon5			CCGCCGCCACCGC	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1516G>T	17.37:g.77807925C>A	ENSP00000269397:p.Ala506Ser	Somatic	20	1		WXS	Illumina GAIIx	Phase_I	86	51	NM_003655	0	0	0	0	0	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	1.502	-0.551756	0.03996	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	0.641	0.641	0.17759	.	261.598000	0.00465	U	0.000100	T	0.24547	0.0595	N	0.08118	0	0.26316	N	0.977758	P	0.52463	0.953	P	0.53988	0.739	T	0.44375	-0.9332	8	0.07482	T	0.82	.	.	.	.	.	506	O00257	CBX4_HUMAN	S	506;236	.	ENSP00000269397:A506S	A	-	1	0	CBX4	75422520	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.194000	0.09559	0.613000	0.30089	0.299000	0.19835	GCG	.		0.701	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		A	77807925	C	A	77807925	3	1	31	1	0	0	0	0	1	0	0	0	2727	739	26	3	170	3	CBX4	17	77807925	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3415297	77807925	3387285	2006	7558											
GAA	2548	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	78091491	78091491	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtgggtgacgctgccGgcccccctggacaccatcaa	14	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:78091491G>T	ENST00000302262.3	+	17	2643	c.2424G>T	c.(2422-2424)ccG>ccT	p.P808P	GAA_ENST00000390015.3_Silent_p.P808P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	808					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGACGCTGCCGGCCCCCCTGG	0.692																																					p.P808P		.											.	GAA-91	0			c.G2424T						.						29	29	29					17																	78091491		2202	4297	6499	SO:0001819	synonymous_variant	2548	exon18			GCTGCCGGCCCCC		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2424G>T	17.37:g.78091491G>T		Somatic	125	1		WXS	Illumina GAIIx	Phase_I	172	40	NM_001079803	0	0	0	0	0	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																			.		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78091491	G	T	78091491	2	4	31	1	0	0	0	0	0	0	0	1	6171	1103	39	2		2	GAA	17	78091491	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	283566	78091491	3103719	2007	7559											
BAHCC1	57597	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	79428055	79428055	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgggggtgctgcagaacctCttccagctcaacggcagcag	13	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:79428055C>T	ENST00000307745.7	+	30	6366	c.6366C>T	c.(6364-6366)ctC>ctT	p.L2122L	RP11-1055B8.8_ENST00000572590.1_RNA																							TGCAGAACCTCTTCCAGCTCA	0.706																																					.		.											.	BAHCC1-23	0			.						.						10	16	14					17																	79428055		2015	4163	6178	SO:0001819	synonymous_variant	57597	.			GAACCTCTTCCAG																												ENST00000307745.7:c.6366C>T	17.37:g.79428055C>T		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	130	34	.	0	0	0	0	0		Silent	SNP	ENST00000307745.7	37																																																																																				.		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79428055	C	T	79428055	2	4	31	1	0	0	0	0	0	0	0	1	1297	900	32	3		3	BAHCC1	17	79428055	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1336564	79428055	1767155	2008	7560											
HEXDC	284004	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	80393626	80393626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaagagcagaacagcaCggggaagttgtgcctgtcac	13	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:80393626C>T	ENST00000327949.9	+	5	520	c.509C>T	c.(508-510)aCg>aTg	p.T170M	HEXDC_ENST00000337014.6_Missense_Mutation_p.T170M|HEXDC_ENST00000577944.1_Missense_Mutation_p.T170M			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	170					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGAACAGCACGGGGAAGTTG	0.672																																					p.T170M		.											.	HEXDC-92	0			c.C509T						.						62	73	69					17																	80393626		2035	4177	6212	SO:0001583	missense	284004	exon6			ACAGCACGGGGAA	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.509C>T	17.37:g.80393626C>T	ENSP00000332634:p.Thr170Met	Somatic	69	1		WXS	Illumina GAIIx	Phase_I	172	68	NM_173620	0	0	0	0	0	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.	.	.	.	.	.	.	.	.	.	C	4.549	0.101955	0.08731	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.95554	-3.74;-3.74	5.72	-5.75	0.02384	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	1.024250	0.07732	N	0.945466	D	0.86497	0.5947	N	0.17474	0.49	0.09310	N	1	B;P	0.42993	0.126;0.797	B;B	0.37601	0.021;0.254	T	0.80578	-0.1320	10	0.44086	T	0.13	-0.1811	4.7806	0.13201	0.1661:0.4978:0.2176:0.1185	.	170;170	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	M	170	ENSP00000337854:T170M;ENSP00000332634:T170M	ENSP00000332634:T170M	T	+	2	0	HEXDC	77986915	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.209000	0.17435	-0.836000	0.04229	-0.457000	0.05445	ACG	.		0.672	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		T	80393626	C	T	80393626	3	4	31	1	0	0	0	0	1	0	0	0	7102	536	19	1	527	1	HEXDC	17	80393626	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	965571	80393626	801584	2009	7561											
COLEC12	81035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	321761	321761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcacagtcttctcctgGcccatggccatgaccccagt	8	18	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:321761G>T	ENST00000400256.3	-	9	2317	c.2110C>A	c.(2110-2112)Cca>Aca	p.P704T	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	704	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTTCTCCTGGCCCATGGCCA	0.443																																					p.P704T		.											.	COLEC12-92	0			c.C2110A						.						158	161	160					18																	321761		2203	4300	6503	SO:0001583	missense	81035	exon9			CTCCTGGCCCATG	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2110C>A	18.37:g.321761G>T	ENSP00000383115:p.Pro704Thr	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	57	30	NM_130386	0	0	0	0	0	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921857	0.33908	.	.	ENSG00000158270	ENST00000400256	T	0.18338	2.22	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.187186	0.47093	D	0.000255	T	0.15955	0.0384	N	0.26042	0.785	0.44024	D	0.996748	B	0.18968	0.032	B	0.17722	0.019	T	0.04593	-1.0940	10	0.34782	T	0.22	-11.4463	19.786	0.96437	0.0:0.0:1.0:0.0	.	704	Q5KU26	COL12_HUMAN	T	704	ENSP00000383115:P704T	ENSP00000383115:P704T	P	-	1	0	COLEC12	311761	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.046000	0.49846	2.676000	0.91093	0.563000	0.77884	CCA	.		0.443	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			T	321761	G	T	321761	3	4	31	1	0	0	0	0	1	0	0	0	3719	1203	42	3	126	3	COLEC12	18	321761	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		321761	77755487	2010	7562											
CLUL1	27098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	627305	627305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagcaagagtttgaccAgacttttcaatcacatttca	7	9	3	3	rs371155784		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:627305A>G	ENST00000400606.2	+	5	777	c.632A>G	c.(631-633)cAg>cGg	p.Q211R	CLUL1_ENST00000540035.1_Missense_Mutation_p.Q263R|CLUL1_ENST00000579494.1_Missense_Mutation_p.Q211R|CLUL1_ENST00000338387.7_Missense_Mutation_p.Q211R|CLUL1_ENST00000581619.1_Missense_Mutation_p.Q236R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	211					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GAGTTTGACCAGACTTTTCAA	0.408																																					p.Q211R		.											.	CLUL1-92	0			c.A632G						.	A	ARG/GLN,ARG/GLN	0,3766		0,0,1883	203	188	192		632,632	3.3	0.9	18		192	1,8251		0,1,4125	no	missense,missense	CLUL1	NM_014410.4,NM_199167.1	43,43	0,1,6008	GG,GA,AA		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	211/467,211/467	627305	1,12017	1883	4126	6009	SO:0001583	missense	27098	exon5			TTGACCAGACTTT	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.632A>G	18.37:g.627305A>G	ENSP00000383449:p.Gln211Arg	Somatic	147	1		WXS	Illumina GAIIx	Phase_I	128	57	NM_199167	0	0	0	0	0	A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141221	0.37825	0.0	1.21E-4	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22945	1.93;1.93;1.93	5.86	3.31	0.37934	Clusterin, N-terminal (1);	0.445754	0.25948	N	0.027267	T	0.36303	0.0962	L	0.53249	1.67	0.32372	N	0.555669	D;D	0.63046	0.992;0.982	P;P	0.57720	0.826;0.824	T	0.46762	-0.9168	10	0.49607	T	0.09	-4.9257	8.9113	0.35555	0.7426:0.1317:0.0:0.1257	.	263;211	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	211;263;211	ENSP00000383449:Q211R;ENSP00000441726:Q263R;ENSP00000341128:Q211R	ENSP00000341128:Q211R	Q	+	2	0	CLUL1	617305	0.999000	0.42202	0.939000	0.37840	0.767000	0.43475	3.675000	0.54605	1.016000	0.39470	0.459000	0.35465	CAG	.		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			G	627305	A	G	627305	3	3	31	1	0	0	0	0	1	0	0	0	3577	188	7	4	646	4	CLUL1	18	627305	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	305544	627305	77449943	2011	7563											
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	3067394	3067394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccagcccgtatttgcCcgagtcagcggtgctcacgc	10	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:3067394C>A	ENST00000356443.4	-	38	5257	c.4924G>T	c.(4924-4926)Ggc>Tgc	p.G1642C	MYOM1_ENST00000400569.3_Missense_Mutation_p.G1642C|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1546C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1642	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						CCGTATTTGCCCGAGTCAGCG	0.602																																					p.G1642C		.											.	MYOM1-94	0			c.G4924T						.						76	80	78					18																	3067394		2203	4300	6503	SO:0001583	missense	8736	exon38			ATTTGCCCGAGTC	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.4924G>T	18.37:g.3067394C>A	ENSP00000348821:p.Gly1642Cys	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	166	39	NM_003803	0	0	0	0	0	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979140	0.92982	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.77750	-1.12;-1.12;-1.12	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	H	0.99811	4.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96854	0.9627	10	0.87932	D	0	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	1546;1642	P52179-2;P52179	.;MYOM1_HUMAN	C	1642;1642;1546	ENSP00000348821:G1642C;ENSP00000383413:G1642C;ENSP00000261606:G1546C	ENSP00000261606:G1546C	G	-	1	0	MYOM1	3057394	1.000000	0.71417	0.962000	0.40283	0.750000	0.42670	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	GGC	.		0.602	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3067394	C	A	3067394	3	1	31	1	0	0	0	0	1	0	0	0	10129	623	22	3	137	3	MYOM1	18	3067394	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2440089	3067394	75009854	2012	7564											
LAMA1	284217	broad.mit.edu;bcgsc.ca	37	chr18	6986199	6986199	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttcctgcatctttgcCtcagcttccctcacgagcgc	7	16	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:6986199C>G	ENST00000389658.3	-	37	5409	c.5316G>C	c.(5314-5316)gaG>gaC	p.E1772D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1772	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)				GCATCTTTGCCTCAGCTTCCC	0.483																																					p.E1772D		.											.	LAMA1-149	0			c.G5316C						.						209	178	188					18																	6986199		2203	4300	6503	SO:0001583	missense	284217	exon37			CTTTGCCTCAGCT	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.5316G>C	18.37:g.6986199C>G	ENSP00000374309:p.Glu1772Asp	Somatic	87	2		WXS	Illumina GAIIx	Phase_I	90	31	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	4.837	0.155607	0.09236	.	.	ENSG00000101680	ENST00000389658	T	0.10192	2.9	5.18	2.02	0.26589	Laminin I (1);	0.815221	0.11051	N	0.605098	T	0.08846	0.0219	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.46428	-0.9192	10	0.13108	T	0.6	.	3.7693	0.08635	0.387:0.3825:0.15:0.0804	.	1772	P25391	LAMA1_HUMAN	D	1772	ENSP00000374309:E1772D	ENSP00000374309:E1772D	E	-	3	2	LAMA1	6976199	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.009000	0.13219	0.093000	0.17368	0.650000	0.86243	GAG	.		0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	6986199	C	G	6986199	3	3	31	1	0	0	0	0	1	0	0	0	8633	680	24	3	4019	3	LAMA1	18	6986199	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3918805	6986199	71091049	2013	7565											
ANKRD12	23253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	9258888	9258888	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taacatttaacggatcatatCtcctggatggaaacccctta	6	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:9258888C>G	ENST00000262126.4	+	9	5863	c.5623C>G	c.(5623-5625)Ctc>Gtc	p.L1875V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L1852V|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L1852V|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1875						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1875I(1)		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						CGGATCATATCTCCTGGATGG	0.368																																					p.L1875V		.											.	ANKRD12-92	1	Substitution - Missense(1)	large_intestine(1)	c.C5623G						.						100	97	98					18																	9258888		2201	4299	6500	SO:0001583	missense	23253	exon9			TCATATCTCCTGG	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.5623C>G	18.37:g.9258888C>G	ENSP00000262126:p.Leu1875Val	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	164	45	NM_015208	0	0	0	0	0	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014634	0.75161	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.69306	-0.39;-0.39	5.44	5.44	0.79542	.	0.072465	0.64402	D	0.000020	T	0.76751	0.4031	L	0.38838	1.175	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.77988	-0.2380	10	0.66056	D	0.02	-5.1253	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1852;1875	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	V	1852;1875	ENSP00000372932:L1852V;ENSP00000262126:L1875V	ENSP00000262126:L1875V	L	+	1	0	ANKRD12	9248888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.781000	0.62389	2.707000	0.92482	0.655000	0.94253	CTC	.		0.368	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		G	9258888	C	G	9258888	3	3	31	1	0	0	0	0	1	0	0	0	640	913	32	3	5653	3	ANKRD12	18	9258888	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2272689	9258888	68818360	2014	7566											
TXNDC2	84203	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	9886692	9886692	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccatggtcagccacacGttccacatgcgcacagagga	9	16	1	1	rs114777727	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:9886692G>T	ENST00000306084.6	+	2	415	c.216G>T	c.(214-216)acG>acT	p.T72T	TXNDC2_ENST00000536353.2_Silent_p.T5T|TXNDC2_ENST00000357775.5_Silent_p.T5T|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	72					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCAGCCACACGTTCCACATGC	0.567																																					p.T72T		.											.	TXNDC2-92	0			c.G216T						.						120	89	99					18																	9886692		2203	4300	6503	SO:0001819	synonymous_variant	84203	exon2			CCACACGTTCCAC	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.216G>T	18.37:g.9886692G>T		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	98	46	NM_001098529	0	0	0	0	0	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																			G|0.996;A|0.004		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			T	9886692	G	T	9886692	2	4	31	1	0	0	0	0	0	0	0	1	16846	1132	40	2		2	TXNDC2	18	9886692	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	627804	9886692	68190556	2015	7567											
CIDEA	1149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	12277152	12277152	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggttcctgtcctactccgcCcaggtgacgggacagtttct	11	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:12277152C>A	ENST00000320477.9	+	5	608	c.543C>A	c.(541-543)gcC>gcA	p.A181A	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	181					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCTACTCCGCCCAGGTGACGG	0.577																																					p.A181A		.											.	CIDEA-91	0			c.C543A						.						102	88	93					18																	12277152		2203	4300	6503	SO:0001819	synonymous_variant	1149	exon5			CTCCGCCCAGGTG	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.543C>A	18.37:g.12277152C>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	132	63	NM_001279	0	0	0	0	0	B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	CCDS11856.1																																																																																			.		0.577	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		A	12277152	C	A	12277152	2	1	31	1	0	0	0	0	0	0	0	1	3432	610	22	3		3	CIDEA	18	12277152	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2390460	12277152	65800096	2016	7568											
PTPN2	5771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	12817252	12817252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggtcagggttcaaggagCcagattctctcactttaaac	9	10	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:12817252C>A	ENST00000309660.5	-	6	701	c.608G>T	c.(607-609)gGc>gTc	p.G203V	PTPN2_ENST00000327283.3_Missense_Mutation_p.G203V|PTPN2_ENST00000591115.1_Missense_Mutation_p.G226V|PTPN2_ENST00000353319.4_Missense_Mutation_p.G203V|PTPN2_ENST00000591497.1_Missense_Mutation_p.G174V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	203	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTTCAAGGAGCCAGATTCTCT	0.463																																					p.G226V		.											.	PTPN2-652	0			c.G677T						.						88	90	89					18																	12817252		2203	4300	6503	SO:0001583	missense	5771	exon7			AAGGAGCCAGATT	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.608G>T	18.37:g.12817252C>A	ENSP00000311857:p.Gly203Val	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	203	93	NM_001207013	0	0	0	0	0	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778174	0.90195	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	D	0.000038	D	0.90283	0.6961	M	0.62088	1.915	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;0.999;0.999;1.0;1.0	D	0.91132	0.4938	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	203;203;180;203;203	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	V	203;203;180;203	ENSP00000320298:G203V;ENSP00000320546:G203V;ENSP00000311857:G203V	ENSP00000311857:G203V	G	-	2	0	PTPN2	12807252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.928000	0.70088	2.447000	0.82792	0.591000	0.81541	GGC	.		0.463	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		A	12817252	C	A	12817252	3	1	31	1	0	0	0	0	1	0	0	0	12828	739	26	3	681	3	PTPN2	18	12817252	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	540100	12817252	65259996	2017	7569											
POTEC	388468	broad.mit.edu;bcgsc.ca	37	chr18	14533178	14533178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgctgatccacaacataCagcaagtatgagggcagttc	9	10	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14533178C>T	ENST00000358970.5	-	5	936	c.937G>A	c.(937-939)Gta>Ata	p.V313I	RNU6-1021P_ENST00000363262.1_RNA|POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	313										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCACAACATACAGCAAGTATG	0.343																																					p.V313I		.											.	POTEC-3	0			c.G937A						.																																			SO:0001583	missense	388468	exon5			AACATACAGCAAG	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.937G>A	18.37:g.14533178C>T	ENSP00000351856:p.Val313Ile	Somatic	649	2		WXS	Illumina GAIIx	Phase_I	530	194	NM_001137671	0	0	0	0	0		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401577	0.11696	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.64438	-0.1	1.09	1.09	0.20402	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59404	0.2191	N	0.17564	0.495	0.09310	N	1	D	0.54601	0.967	D	0.70716	0.97	T	0.46190	-0.9209	9	0.52906	T	0.07	.	5.5934	0.17313	0.0:1.0:0.0:0.0	.	313	B2RU33	POTEC_HUMAN	I	313	ENSP00000351856:V313I	ENSP00000351856:V313I	V	-	1	0	POTEC	14523178	0.643000	0.27269	0.563000	0.28383	0.022000	0.10575	0.251000	0.18257	0.927000	0.37143	0.194000	0.17425	GTA	.		0.343	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		T	14533178	C	T	14533178	3	4	31	1	0	0	0	0	1	0	0	0	12301	478	17	3	719	3	POTEC	18	14533178	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1715926	14533178	63544070	2018	7570											
ANKRD30B	374860	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	14748439	14748439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaggctcttagctgcCgctggcaagggcgtgcgggg	18	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14748439C>A	ENST00000358984.4	+	1	201	c.21C>A	c.(19-21)gcC>gcA	p.A7A	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.A7A	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	7										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCTTAGCTGCCGCTGGCAAGG	0.682																																					p.A7A		.											.	ANKRD30B-24	0			c.C21A						.						10	15	13					18																	14748439		692	1586	2278	SO:0001819	synonymous_variant	374860	exon1			AGCTGCCGCTGGC	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.21C>A	18.37:g.14748439C>A		Somatic	59	1		WXS	Illumina GAIIx	Phase_I	94	27	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.682	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14748439	C	A	14748439	2	1	31	1	0	0	0	0	0	0	0	1	659	639	23	2		2	ANKRD30B	18	14748439	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	215261	14748439	63328809	2019	7571											
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	14787090	14787090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgaagaaaattcttgGgattctgaggtactatgtgt	12	4	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14787090G>T	ENST00000358984.4	+	15	1905	c.1725G>T	c.(1723-1725)tgG>tgT	p.W575C	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.W575C	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	575										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTCTTGGGATTCTGAGG	0.318																																					p.W575C		.											.	ANKRD30B-24	0			c.G1725T						.						167	142	150					18																	14787090		692	1585	2277	SO:0001583	missense	374860	exon15			TTCTTGGGATTCT	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.1725G>T	18.37:g.14787090G>T	ENSP00000351875:p.Trp575Cys	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	132	52	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	8.706	0.910837	0.17833	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.06294	3.32;3.32	1.15	1.15	0.20763	.	.	.	.	.	T	0.06872	0.0175	L	0.61218	1.895	0.37515	D	0.917298	D	0.55605	0.972	B	0.40825	0.341	T	0.41124	-0.9526	9	0.42905	T	0.14	.	5.7266	0.18017	0.0:0.0:1.0:0.0	.	575	F8WAG3	.	C	575	ENSP00000351875:W575C;ENSP00000399031:W575C	ENSP00000351875:W575C	W	+	3	0	ANKRD30B	14777090	0.993000	0.37304	0.731000	0.30826	0.007000	0.05969	1.235000	0.32671	0.948000	0.37687	0.289000	0.19496	TGG	.		0.318	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		T	14787090	G	T	14787090	3	4	31	1	0	0	0	0	1	0	0	0	659	1241	43	3	1783	3	ANKRD30B	18	14787090	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	38651	14787090	63290158	2020	7572											
ANKRD30B	374860	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	14851981	14851981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacaatatataacaatgaGgtgctccatcaaccacttta	4	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14851981G>A	ENST00000358984.4	+	36	3861	c.3681G>A	c.(3679-3681)gaG>gaA	p.E1227E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1227										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATAACAATGAGGTGCTCCATC	0.358																																					p.E1227E		.											.	ANKRD30B-24	0			c.G3681A						.						8	9	8					18																	14851981		690	1576	2266	SO:0001819	synonymous_variant	374860	exon36			CAATGAGGTGCTC	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.3681G>A	18.37:g.14851981G>A		Somatic	234	0		WXS	Illumina GAIIx	Phase_I	173	40	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.358	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14851981	G	A	14851981	2	1	31	1	0	0	0	0	0	0	0	1	659	991	35	3		3	ANKRD30B	18	14851981	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	64891	14851981	63225267	2021	7573											
TTC39C	125488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	21646036	21646036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtgatgacttaaaaaccAcagaaaaactgtgtgaaagt	8	6	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:21646036A>G	ENST00000317571.3	+	3	513	c.277A>G	c.(277-279)Aca>Gca	p.T93A	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.T32A	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	93										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTTAAAAACCACAGAAAAACT	0.348																																					p.T93A		.											.	TTC39C-91	0			c.A277G						.						101	109	106					18																	21646036		2203	4300	6503	SO:0001583	missense	125488	exon3			AAAACCACAGAAA	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.277A>G	18.37:g.21646036A>G	ENSP00000323645:p.Thr93Ala	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	151	73	NM_001135993	0	0	0	0	0	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081862	0.76528	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.29655	1.56;1.56	5.24	5.24	0.73138	.	0.044651	0.85682	N	0.000000	T	0.32102	0.0818	L	0.58669	1.825	0.80722	D	1	P	0.41498	0.752	B	0.42462	0.388	T	0.08848	-1.0702	10	0.07990	T	0.79	2.6247	15.4157	0.74966	1.0:0.0:0.0:0.0	.	93	Q8N584	TT39C_HUMAN	A	32;93	ENSP00000306598:T32A;ENSP00000323645:T93A	ENSP00000306598:T32A	T	+	1	0	TTC39C	19900034	1.000000	0.71417	0.984000	0.44739	0.905000	0.53344	8.762000	0.91711	2.111000	0.64477	0.533000	0.62120	ACA	.		0.348	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		G	21646036	A	G	21646036	3	3	31	1	0	0	0	0	1	0	0	0	16758	159	6	4	287	4	TTC39C	18	21646036	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	6794055	21646036	56431212	2022	7574											
SS18	6760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	23615884	23615884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgataaccgtaatcattaTgacctacatcaattcgacaa	5	10	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:23615884T>C	ENST00000415083.2	-	8	939	c.884A>G	c.(883-885)cAt>cGt	p.H295R	SS18_ENST00000542420.2_Missense_Mutation_p.H272R|SS18_ENST00000269137.7_Intron|SS18_ENST00000539849.1_Missense_Mutation_p.H213R|SS18_ENST00000542743.1_Intron|SS18_ENST00000545952.1_Intron	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	295	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTAATCATTATGACCTACATC	0.363			T	"SSX1,  SSX2"	synovial sarcoma																																p.H295R		.		Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	.	SS18-1968	0			c.A884G						.						113	85	95					18																	23615884		2203	4300	6503	SO:0001583	missense	6760	exon8			TCATTATGACCTA	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.884A>G	18.37:g.23615884T>C	ENSP00000414516:p.His295Arg	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	51	20	NM_001007559	0	0	0	0	0	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524738	0.64747	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000542420;ENST00000539849;ENST00000539244	T;T	0.34667	1.38;1.35	5.76	5.76	0.90799	.	0.058098	0.64402	D	0.000001	T	0.41096	0.1144	L	0.42245	1.32	0.53005	D	0.999961	P	0.51653	0.947	P	0.51229	0.663	T	0.10314	-1.0635	10	0.16896	T	0.51	-19.6325	16.0796	0.80995	0.0:0.0:0.0:1.0	.	295	Q15532	SSXT_HUMAN	R	298;295;272;213;10	ENSP00000438066:H272R;ENSP00000444647:H213R	ENSP00000269138:H295R	H	-	2	0	SS18	21869882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.206000	0.65192	2.199000	0.70637	0.477000	0.44152	CAT	.		0.363	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			C	23615884	T	C	23615884	3	2	31	1	0	0	0	0	1	0	0	0	15222	1464	51	4	388	4	SS18	18	23615884	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1969848	23615884	54461364	2023	7575											
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	25565561	25565561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagatcaaaagcaaatgGtccagcatttggatcaatgt	10	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:25565561G>T	ENST00000269141.3	-	12	2329	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	CDH2_ENST00000399380.3_Missense_Mutation_p.P605T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	636	Cadherin 5. {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						AAAGCAAATGGTCCAGCATTT	0.378																																					p.P636T		.											.	CDH2-525	0			c.C1906A						.						88	87	87					18																	25565561		2203	4300	6503	SO:0001583	missense	1000	exon12			CAAATGGTCCAGC	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.1906C>A	18.37:g.25565561G>T	ENSP00000269141:p.Pro636Thr	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	87	17	NM_001792	0	0	0	0	0	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182661	0.57800	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.52526	0.66;0.66	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.95780	3.72	0.80722	D	1	P;P	0.48998	0.918;0.632	P;B	0.44561	0.453;0.282	T	0.79522	-0.1769	10	0.87932	D	0	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	605;636	A8MWK3;P19022	.;CADH2_HUMAN	T	636;605	ENSP00000269141:P636T;ENSP00000382312:P605T	ENSP00000269141:P636T	P	-	1	0	CDH2	23819559	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA	.		0.378	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25565561	G	T	25565561	3	4	31	1	0	0	0	0	1	0	0	0	3112	1261	44	3	834	3	CDH2	18	25565561	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1949677	25565561	52511687	2024	7576											
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	25593747	25593747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcatatatcaggaacttgGcatgctcagaagagagtgga	14	6	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:25593747G>T	ENST00000269141.3	-	3	722	c.299C>A	c.(298-300)gCc>gAc	p.A100D	CDH2_ENST00000399380.3_Missense_Mutation_p.A69D	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	100					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						CAGGAACTTGGCATGCTCAGA	0.458																																					p.A100D		.											.	CDH2-525	0			c.C299A						.						186	171	176					18																	25593747		2203	4300	6503	SO:0001583	missense	1000	exon3			AACTTGGCATGCT	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.299C>A	18.37:g.25593747G>T	ENSP00000269141:p.Ala100Asp	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	75	19	NM_001792	0	0	0	0	0	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816394	0.70912	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882;ENST00000413878	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.88	5.55	5.55	0.83447	Cadherin prodomain-like (1);Cadherin-like (1);	0.217070	0.47852	D	0.000203	T	0.65396	0.2687	L	0.48642	1.525	0.33878	D	0.635812	P;P	0.38129	0.619;0.549	P;B	0.52267	0.694;0.326	T	0.64037	-0.6501	10	0.13108	T	0.6	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	69;100	A8MWK3;P19022	.;CADH2_HUMAN	D	100;69;49;15;15	ENSP00000269141:A100D;ENSP00000382312:A69D;ENSP00000411360:A49D;ENSP00000412120:A15D;ENSP00000414269:A15D	ENSP00000269141:A100D	A	-	2	0	CDH2	23847745	0.997000	0.39634	0.022000	0.16811	0.995000	0.86356	7.659000	0.83766	2.616000	0.88540	0.585000	0.79938	GCC	.		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25593747	G	T	25593747	3	4	31	1	0	0	0	0	1	0	0	0	3112	1203	42	3	2477	3	CDH2	18	25593747	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	28186	25593747	52483501	2025	7577											
DSG1	1828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	28906904	28906904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggcagaaacgtgaatGgatcaagttcgcagcagcct	12	10	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:28906904G>T	ENST00000257192.4	+	3	364	c.152G>T	c.(151-153)tGg>tTg	p.W51L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAACGTGAATGGATCAAGTTC	0.388																																					p.W51L		.											.	DSG1-519	0			c.G152T						.						121	116	117					18																	28906904		2203	4300	6503	SO:0001583	missense	1828	exon3			GTGAATGGATCAA	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.152G>T	18.37:g.28906904G>T	ENSP00000257192:p.Trp51Leu	Somatic	461	1		WXS	Illumina GAIIx	Phase_I	355	155	NM_001942	0	0	0	0	0	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498333	0.85069	.	.	ENSG00000134760	ENST00000257192	T	0.66099	-0.19	5.53	5.53	0.82687	Cadherin-like (1);	0.000000	0.53938	D	0.000047	D	0.85750	0.5769	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89414	0.3705	10	0.87932	D	0	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	51	Q02413	DSG1_HUMAN	L	51	ENSP00000257192:W51L	ENSP00000257192:W51L	W	+	2	0	DSG1	27160902	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.473000	0.73572	2.597000	0.87782	0.557000	0.71058	TGG	.		0.388	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28906904	G	T	28906904	3	4	31	1	0	0	0	0	1	0	0	0	4790	1357	47	3	162	3	DSG1	18	28906904	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3313157	28906904	49170344	2026	7578											
DSG3	1830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	29049291	29049291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatcggcctgctgctcCttggtctcctgctgctgctg	11	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:29049291C>T	ENST00000257189.4	+	12	1959	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	626					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGCTGCTCCTTGGTCTCCT	0.592																																					p.L626F		.											.	DSG3-98	0			c.C1876T						.						39	42	41					18																	29049291		2203	4300	6503	SO:0001583	missense	1830	exon12			CTGCTCCTTGGTC	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1876C>T	18.37:g.29049291C>T	ENSP00000257189:p.Leu626Phe	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	88	35	NM_001944	0	0	0	0	0	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970759	0.74246	.	.	ENSG00000134757	ENST00000257189	T	0.57436	0.4	5.76	4.9	0.64082	.	0.000000	0.42172	D	0.000742	T	0.60521	0.2275	L	0.61036	1.89	0.09310	N	1	P	0.49783	0.928	P	0.58013	0.831	T	0.56390	-0.7987	10	0.56958	D	0.05	.	5.578	0.17235	0.1605:0.6783:0.0:0.1612	.	626	P32926	DSG3_HUMAN	F	626	ENSP00000257189:L626F	ENSP00000257189:L626F	L	+	1	0	DSG3	27303289	0.077000	0.21312	0.042000	0.18584	0.712000	0.41017	0.650000	0.24858	1.449000	0.47699	0.591000	0.81541	CTT	.		0.592	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29049291	C	T	29049291	3	4	31	1	0	0	0	0	1	0	0	0	4792	681	24	3	1922	3	DSG3	18	29049291	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	142387	29049291	49027957	2027	7579											
KLHL14	57565	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	30350407	30350407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgagcaggaggccagcaCggccttgtggcaatggaact	15	11	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:30350407C>T	ENST00000359358.4	-	2	586	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	KLHL14_ENST00000358095.4_Missense_Mutation_p.V50M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGCCAGCACGGCCTTGTGG	0.677																																					p.V50M		.											.	KLHL14-91	0			c.G148A						.						49	40	43					18																	30350407		2203	4297	6500	SO:0001583	missense	57565	exon2			CCAGCACGGCCTT	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.148G>A	18.37:g.30350407C>T	ENSP00000352314:p.Val50Met	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	100	31	NM_020805	0	0	0	0	0	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198278	0.22037	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.73681	-0.77;-0.77	4.14	3.26	0.37387	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.198050	0.42420	N	0.000702	T	0.70894	0.3276	M	0.70275	2.135	0.52099	D	0.99994	B	0.16802	0.019	B	0.12837	0.008	T	0.68405	-0.5417	10	0.48119	T	0.1	.	10.8614	0.46829	0.0:0.9067:0.0:0.0933	.	50	Q9P2G3	KLH14_HUMAN	M	50	ENSP00000352314:V50M;ENSP00000350808:V50M	ENSP00000350808:V50M	V	-	1	0	KLHL14	28604405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.467000	0.80930	0.943000	0.37553	0.460000	0.39030	GTG	.		0.677	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			T	30350407	C	T	30350407	3	4	31	1	0	0	0	0	1	0	0	0	8397	536	19	1	1770	1	KLHL14	18	30350407	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1301116	30350407	47726841	2028	7580											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	31323338	31323338	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaagtctgcccacctcCgggagaccaccactgtacta	8	16	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:31323338C>A	ENST00000269197.5	+	12	3526	c.3526C>A	c.(3526-3528)Cgg>Agg	p.R1176R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1176					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						TGCCCACCTCCGGGAGACCAC	0.443																																					p.R1176R		.											.	ASXL3-49	0			c.C3526A						.						44	43	43					18																	31323338		1917	4131	6048	SO:0001819	synonymous_variant	80816	exon12			CACCTCCGGGAGA	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.3526C>A	18.37:g.31323338C>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	42	24	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																			.		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31323338	C	A	31323338	2	1	31	1	0	0	0	0	0	0	0	1	1069	643	23	2		2	ASXL3	18	31323338	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	972931	31323338	46753910	2029	7581											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	31325189	31325189	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagtgggtaaaacagcaccaGagagaaacgttgaaattccg	11	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:31325189G>C	ENST00000269197.5	+	12	5377	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1793					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						AACAGCACCAGAGAGAAACGT	0.488																																					p.E1793Q		.											.	ASXL3-49	0			c.G5377C						.						70	70	70					18																	31325189		1894	4124	6018	SO:0001583	missense	80816	exon12			GCACCAGAGAGAA	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.5377G>C	18.37:g.31325189G>C	ENSP00000269197:p.Glu1793Gln	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	65	11	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663192	0.47572	.	.	ENSG00000141431	ENST00000269197	T	0.18174	2.23	5.7	5.7	0.88788	.	.	.	.	.	T	0.19525	0.0469	N	0.24115	0.695	0.31181	N	0.702038	D	0.54397	0.966	P	0.46479	0.518	T	0.01829	-1.1265	9	0.54805	T	0.06	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	1793	Q9C0F0	ASXL3_HUMAN	Q	1793	ENSP00000269197:E1793Q	ENSP00000269197:E1793Q	E	+	1	0	ASXL3	29579187	1.000000	0.71417	0.953000	0.39169	0.708000	0.40852	4.103000	0.57783	2.698000	0.92095	0.655000	0.94253	GAG	.		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31325189	G	C	31325189	3	2	31	1	0	0	0	0	1	0	0	0	1069	943	33	3	5423	3	ASXL3	18	31325189	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1851	31325189	46752059	2030	7582											
DTNA	1837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	32431876	32431876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcagctgattgctgagCtagaaaacaagaacaggtga	12	6	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:32431876C>A	ENST00000399113.3	+	14	1435	c.1435C>A	c.(1435-1437)Cta>Ata	p.L479I	DTNA_ENST00000599844.1_Missense_Mutation_p.L101I|DTNA_ENST00000269192.7_Missense_Mutation_p.L188I|DTNA_ENST00000601125.1_Missense_Mutation_p.L101I|DTNA_ENST00000598334.1_Missense_Mutation_p.L419I|DTNA_ENST00000598142.1_Missense_Mutation_p.L422I|DTNA_ENST00000591182.1_Missense_Mutation_p.L127I|DTNA_ENST00000283365.9_Missense_Mutation_p.L422I|DTNA_ENST00000348997.5_Missense_Mutation_p.L476I|DTNA_ENST00000444659.1_Missense_Mutation_p.L479I|DTNA_ENST00000556414.3_Missense_Mutation_p.L131I|DTNA_ENST00000598774.1_Missense_Mutation_p.L422I|DTNA_ENST00000269190.7_Missense_Mutation_p.L480I|DTNA_ENST00000399097.3_Missense_Mutation_p.L127I|DTNA_ENST00000269191.6_Missense_Mutation_p.L479I|DTNA_ENST00000399121.5_Missense_Mutation_p.L419I|DTNA_ENST00000597674.1_Missense_Mutation_p.L101I|DTNA_ENST00000595022.1_Missense_Mutation_p.L419I|DTNA_ENST00000597599.1_Missense_Mutation_p.L419I|DTNA_ENST00000596745.1_Missense_Mutation_p.L229I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	479					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATTGCTGAGCTAGAAAACAA	0.438																																					p.L479I		.											.	DTNA-153	0			c.C1435A						.						89	71	77					18																	32431876		2203	4300	6503	SO:0001583	missense	1837	exon14			GCTGAGCTAGAAA	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1435C>A	18.37:g.32431876C>A	ENSP00000382064:p.Leu479Ile	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	204	93	NM_001390	0	0	0	0	0	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076440	0.94000	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.986;0.999;0.999;0.997;0.998;1.0;1.0;0.993;0.998;1.0;1.0;1.0;0.974	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.965;0.999;0.997;0.992;0.997;0.984;0.989;0.99;0.997;0.984;0.986;0.984;0.953	D	0.94830	0.7995	10	0.87932	D	0	-7.9593	19.7728	0.96373	0.0:1.0:0.0:0.0	.	131;188;169;229;101;479;479;419;422;127;476;419;430;422;422	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	I	422;422;419;480;127;476;479;479;479;479;188;127;131	ENSP00000283365:L422I;ENSP00000269190:L480I;ENSP00000382048:L127I;ENSP00000336682:L476I;ENSP00000405819:L479I;ENSP00000269191:L479I;ENSP00000382064:L479I;ENSP00000269192:L188I;ENSP00000452255:L131I	ENSP00000269190:L480I	L	+	1	2	DTNA	30685874	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.763000	0.68818	2.687000	0.91594	0.655000	0.94253	CTA	.		0.438	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		A	32431876	C	A	32431876	3	1	31	1	0	0	0	0	1	0	0	0	4802	796	28	3	1524	3	DTNA	18	32431876	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1106687	32431876	45645372	2031	7583											
FHOD3	80206	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	34297943	34297943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggatggggaggctgggagGacccagcaggaggcagaggc	23	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34297943G>T	ENST00000359247.4	+	15	2106	c.2106G>T	c.(2104-2106)agG>agT	p.R702S	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000445677.1_Missense_Mutation_p.R681S|FHOD3_ENST00000590592.1_Missense_Mutation_p.R894S|FHOD3_ENST00000257209.4_Missense_Mutation_p.R719S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	702					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)				AGGCTGGGAGGACCCAGCAGG	0.582																																					p.R719S		.											.	FHOD3-139	0			c.G2157T						.						65	59	61					18																	34297943		2203	4300	6503	SO:0001583	missense	80206	exon16			TGGGAGGACCCAG	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.2106G>T	18.37:g.34297943G>T	ENSP00000352186:p.Arg702Ser	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	161	28	NM_025135	0	0	0	0	0	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	3.048	-0.195969	0.06259	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.28666	1.6;1.6;1.6	4.74	2.91	0.33838	.	0.853844	0.10635	N	0.651647	T	0.23289	0.0563	L	0.36672	1.1	0.09310	N	1	P;P;B	0.50943	0.94;0.664;0.001	P;B;B	0.44946	0.465;0.201;0.002	T	0.06391	-1.0829	10	0.11485	T	0.65	.	5.9006	0.18964	0.1738:0.1576:0.6686:0.0	.	681;702;719	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	S	719;702;681	ENSP00000257209:R719S;ENSP00000352186:R702S;ENSP00000411430:R681S	ENSP00000257209:R719S	R	+	3	2	FHOD3	32551941	1.000000	0.71417	0.002000	0.10522	0.250000	0.25880	2.349000	0.44054	0.395000	0.25257	0.455000	0.32223	AGG	.		0.582	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34297943	G	T	34297943	3	4	31	1	0	0	0	0	1	0	0	0	5905	1165	41	3	2219	3	FHOD3	18	34297943	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1866067	34297943	43779305	2032	7584											
KIAA1328	57536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	34646889	34646889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcactctccagtgttcatctGtggaactggatggttcctac	10	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34646889G>C	ENST00000280020.5	+	7	635	c.613G>C	c.(613-615)Gtg>Ctg	p.V205L	KIAA1328_ENST00000591619.1_Missense_Mutation_p.V201L|KIAA1328_ENST00000543923.1_Missense_Mutation_p.V97L|KIAA1328_ENST00000586501.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000586135.1_5'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	205										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GTGTTCATCTGTGGAACTGGA	0.428																																					p.V205L		.											.	KIAA1328-90	0			c.G613C						.						67	64	65					18																	34646889		1874	4104	5978	SO:0001583	missense	57536	exon7			TCATCTGTGGAAC	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.613G>C	18.37:g.34646889G>C	ENSP00000280020:p.Val205Leu	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	202	43	NM_020776	0	0	0	0	0	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.604442	0.00849	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.41065	1.01;1.01	6.17	-12.3	0.00002	.	2.347160	0.01088	N	0.005137	T	0.14356	0.0347	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12863	-1.0531	10	0.06099	T	0.92	.	8.8291	0.35074	0.0896:0.0747:0.5243:0.3114	.	205;205	A8K8C3;Q86T90	.;K1328_HUMAN	L	97;205;205	ENSP00000441359:V97L;ENSP00000280020:V205L	ENSP00000280020:V205L	V	+	1	0	KIAA1328	32900887	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-2.042000	0.01414	-4.448000	0.00048	-0.302000	0.09304	GTG	.		0.428	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		C	34646889	G	C	34646889	3	2	31	1	0	0	0	0	1	0	0	0	8252	1377	48	3	639	3	KIAA1328	18	34646889	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	348946	34646889	43430359	2033	7585											
CELF4	56853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	34853088	34853088	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggttcaggtagccgccctgCgcgactgatgccatcagggc	15	13	2	1	rs372009828		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34853088C>G	ENST00000591282.1	-	7	839	c.840G>C	c.(838-840)gcG>gcC	p.A280A	RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000420428.2_Silent_p.A280A|CELF4_ENST00000601019.1_Silent_p.A278A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.A279A|CELF4_ENST00000361795.5_Silent_p.A278A|CELF4_ENST00000588597.1_Silent_p.A269A|CELF4_ENST00000603232.1_Silent_p.A279A|CELF4_ENST00000412753.1_Silent_p.A279A|CELF4_ENST00000334919.5_Silent_p.A270A			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	280	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				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						AGCCGCCCTGCGCGACTGATG	0.647																																					p.A280A		.											.	CELF4-92	0			c.G840C						.						38	42	41					18																	34853088		2203	4300	6503	SO:0001819	synonymous_variant	56853	exon7			GCCCTGCGCGACT	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.840G>C	18.37:g.34853088C>G		Somatic	249	0		WXS	Illumina GAIIx	Phase_I	314	147	NM_020180	0	0	0	0	0	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																			.		0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		G	34853088	C	G	34853088	2	3	31	1	0	0	0	0	0	0	0	1	3225	755	27	2		2	CELF4	18	34853088	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	206199	34853088	43224160	2034	7586											
PIK3C3	5289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	39567811	39567811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacaaggacacatggtgaaAgtagattggctggatagatt	13	5	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:39567811A>G	ENST00000262039.4	+	5	653	c.567A>G	c.(565-567)aaA>aaG	p.K189K	PIK3C3_ENST00000398870.3_Silent_p.K126K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	189					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						ACATGGTGAAAGTAGATTGGC	0.299										TSP Lung(28;0.18)																											p.K189K	NSCLC(37;552 1060 2683 16430 37914)	.											.	PIK3C3-1312	0			c.A567G						.						101	104	103					18																	39567811		2203	4300	6503	SO:0001819	synonymous_variant	5289	exon5			GGTGAAAGTAGAT	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.567A>G	18.37:g.39567811A>G		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	133	73	NM_002647	0	0	0	0	0	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																			.		0.299	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		G	39567811	A	G	39567811	2	3	31	1	0	0	0	0	0	0	0	1	11951	69	3	4		4	PIK3C3	18	39567811	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	4714723	39567811	38509437	2035	7587											
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	43207111	43207111	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgccttgggccaagacAggtgggtccctctctatagg	12	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43207111A>T	ENST00000255226.6	+	4	1336	c.520A>T	c.(520-522)Agg>Tgg	p.R174W	SLC14A2_ENST00000586448.1_Splice_Site_p.R174W	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	174					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCCAAGACAGGTGGGTCCC	0.527																																					p.R174W		.											.	SLC14A2-93	0			c.A520T						.						78	89	85					18																	43207111		2203	4300	6503	SO:0001630	splice_region_variant	8170	exon5			CAAGACAGGTGGG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.521+1A>T	18.37:g.43207111A>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	120	22	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307216	0.81247	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.54071	0.59;0.59	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82055	-0.0647	10	0.87932	D	0	-25.3637	15.2645	0.73651	1.0:0.0:0.0:0.0	.	174;174	Q15849;E7EPU1	UT2_HUMAN;.	W	174	ENSP00000255226:R174W;ENSP00000320689:R174W	ENSP00000255226:R174W	R	+	1	2	SLC14A2	41461109	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.482000	0.73613	2.194000	0.70268	0.460000	0.39030	AGG	.		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Missense_Mutation	T	43207111	A	T	43207111	5	4	31	1	0	0	0	0	0	0	1	0	14442	202	7	5	530	5	SLC14A2	18	43207111	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3639300	43207111	34870137	2036	7588											
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	43219733	43219733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttacaagccatccctgttgGggtcggccaggtgtatggct	14	10	0	0	rs137884313		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43219733G>T	ENST00000255226.6	+	7	1682	c.866G>T	c.(865-867)gGg>gTg	p.G289V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G289V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	289					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCCCTGTTGGGGTCGGCCAG	0.527																																					p.G289V		.											.	SLC14A2-93	0			c.G866T						.						164	147	153					18																	43219733		2203	4300	6503	SO:0001583	missense	8170	exon8			CTGTTGGGGTCGG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.866G>T	18.37:g.43219733G>T	ENSP00000255226:p.Gly289Val	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	95	21	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921900	0.92319	.	.	ENSG00000132874	ENST00000255226	T	0.63913	-0.07	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88940	0.3379	10	0.87932	D	0	-24.3604	19.3787	0.94523	0.0:0.0:1.0:0.0	.	289	Q15849	UT2_HUMAN	V	289	ENSP00000255226:G289V	ENSP00000255226:G289V	G	+	2	0	SLC14A2	41473731	1.000000	0.71417	0.878000	0.34440	0.922000	0.55478	9.176000	0.94839	2.884000	0.98904	0.655000	0.94253	GGG	G|1.000;A|0.000		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43219733	G	T	43219733	3	4	31	1	0	0	0	0	1	0	0	0	14442	1232	43	3	888	3	SLC14A2	18	43219733	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	12622	43219733	34857515	2037	7589											
SIGLEC15	284266	hgsc.bcm.edu	37	chr18	43417752	43417752	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aacgacctctcgctgcgcgtCgagcgcctcgccctggctga	12	17	1	1	rs78530686	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43417752C>G	ENST00000389474.3	+	3	604	c.387C>G	c.(385-387)gtC>gtG	p.V129V	SIGLEC15_ENST00000602118.2_Intron|SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000587418.1_5'Flank	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	129	Ig-like V-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CGCTGCGCGTCGAGCGCCTCG	0.746													C|||	1183	0.236222	0.0908	0.3674	5008	,	,		9688	0.37		0.1312	False		,,,				2504	0.3098				p.V129V		.											.	SIGLEC15-90	0			c.C387G						.	C		237,2763		5,227,1268	3	3	3		387	0.4	1	18	dbSNP_131	3	516,5864		10,496,2684	no	coding-synonymous	SIGLEC15	NM_213602.2		15,723,3952	GG,GC,CC		8.0878,7.9,8.0277		129/329	43417752	753,8627	1500	3190	4690	SO:0001819	synonymous_variant	284266	exon3			GCGCGTCGAGCGC	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27596	protein-coding gene	gene with protein product			"CD33 antigen-like 3", "CD33 molecule-like 3"	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.387C>G	18.37:g.43417752C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_213602	0	0	0	0	0	A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	CCDS32819.1																																																																																			C|0.786;G|0.214		0.746	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		G	43417752	C	G	43417752	2	3	31	1	0	0	0	0	0	0	0	1	14355	871	31	2		2	SIGLEC15	18	43417752	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	198019	43417752	34659496	2038	7590											
KIAA1632	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	43458387	43458387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcttaaagagctgaaTgattactgaatgtagggatt	11	5	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43458387T>C	ENST00000282041.5	-	34	5930	c.5896A>G	c.(5896-5898)Att>Gtt	p.I1966V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1966					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGCTGAATGATTACTGAA	0.323																																					p.I1966V		.											.	EPG5-580	0			c.A5896G						.						80	74	76					18																	43458387		1815	4065	5880	SO:0001583	missense	57724	exon34			GCTGAATGATTAC	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5896A>G	18.37:g.43458387T>C	ENSP00000282041:p.Ile1966Val	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	62	14	NM_020964	0	0	0	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789338	0.00623	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.08984	3.03	5.99	0.581	0.17407	.	.	.	.	.	T	0.05502	0.0145	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43621	-0.9380	9	0.02654	T	1	-5.9899	11.3812	0.49759	0.0:0.2948:0.0:0.7052	.	1966	Q9HCE0	EPG5_HUMAN	V	1966;841	ENSP00000282041:I1966V	ENSP00000282041:I1966V	I	-	1	0	EPG5	41712385	0.994000	0.37717	0.536000	0.28039	0.260000	0.26232	0.103000	0.15292	0.174000	0.19809	-0.264000	0.10439	ATT	.		0.323	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43458387	T	C	43458387	3	2	31	1	0	0	0	0	1	0	0	0	8276	1464	51	4	1887	4	KIAA1632	18	43458387	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	40635	43458387	34618861	2039	7591											
TCEB3B	51224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	44561326	44561326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaggccttttcctggtcctGaagagcctccccgaagcgct	10	16	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:44561326G>A	ENST00000332567.4	-	1	662	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	104					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGGTCCTGAAGAGCCTCC	0.662																																					p.Q104X		.											.	TCEB3B-156	0			c.C310T						.						43	49	47					18																	44561326		2202	4297	6499	SO:0001587	stop_gained	51224	exon1			GGTCCTGAAGAGC	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.310C>T	18.37:g.44561326G>A	ENSP00000331302:p.Gln104*	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	66	36	NM_016427	0	0	0	0	0	Q9P2V9	Nonsense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388008	0.82902	.	.	ENSG00000206181	ENST00000332567	.	.	.	2.84	-3.19	0.05171	.	1.764920	0.03384	N	0.200867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.871	1.0295	0.01535	0.2265:0.3275:0.2798:0.1663	.	.	.	.	X	104	.	ENSP00000331302:Q104X	Q	-	1	0	TCEB3B	42815324	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.002000	0.13061	-0.777000	0.04572	0.558000	0.71614	CAG	.		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		A	44561326	G	A	44561326	4	1	31	1	0	0	0	0	0	1	0	0	15729	1299	45	3	1955	3	TCEB3B	18	44561326	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1102939	44561326	33515922	2040	7592											
ME2	4200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	48458690	48458690	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaacttacagatgggcgagtCtttacaccaggtcaaggaaa	10	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:48458690C>G	ENST00000321341.5	+	13	1649	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	ME2_ENST00000382927.3_Silent_p.V459V|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	459					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATGGGCGAGTCTTTACACCAG	0.333																																					p.V459V		.											.	ME2-90	0			c.C1377G						.						127	125	125					18																	48458690		2203	4300	6503	SO:0001819	synonymous_variant	4200	exon13			GCGAGTCTTTACA	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1377C>G	18.37:g.48458690C>G		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	151	23	NM_001168335	0	0	0	0	0	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	CCDS11948.1																																																																																			.		0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		G	48458690	C	G	48458690	2	3	31	1	0	0	0	0	0	0	0	1	9456	900	32	3		3	ME2	18	48458690	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3897364	48458690	29618558	2041	7593											
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	50278479	50278479	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagaaccttctgatgcCgtcacaatgcggggaggaaa	11	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:50278479C>G	ENST00000442544.2	+	2	763	c.147C>G	c.(145-147)gcC>gcG	p.A49A	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	49	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCTGATGCCGTCACAATGC	0.483																																					p.A49A		.											.	DCC-225	0			c.C147G						.						60	60	60					18																	50278479		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon2			TGATGCCGTCACA	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.147C>G	18.37:g.50278479C>G		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	57	8	NM_005215	0	0	0	0	0		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																			.		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50278479	C	G	50278479	2	3	31	1	0	0	0	0	0	0	0	1	4291	639	23	2		2	DCC	18	50278479	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1819789	50278479	27798769	2042	7594											
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	50985607	50985607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactttgttccataggaaacGggccacccacagtgctggca	10	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:50985607G>C	ENST00000442544.2	+	24	4014	c.3398G>C	c.(3397-3399)cGg>cCg	p.R1133P	DCC_ENST00000581580.1_Missense_Mutation_p.R768P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1133					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATAGGAAACGGGCCACCCAC	0.443																																					p.R1133P		.											.	DCC-225	0			c.G3398C						.						51	50	50					18																	50985607		2203	4300	6503	SO:0001583	missense	1630	exon24			GGAAACGGGCCAC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3398G>C	18.37:g.50985607G>C	ENSP00000389140:p.Arg1133Pro	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	62	22	NM_005215	0	0	0	0	0		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448373	0.26074	.	.	ENSG00000187323	ENST00000442544	T	0.55234	0.53	5.93	5.93	0.95920	.	0.148193	0.43260	D	0.000595	T	0.70753	0.3260	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69308	-0.5179	10	0.54805	T	0.06	-8.3898	19.1254	0.93380	0.0:0.0:1.0:0.0	.	1133	P43146	DCC_HUMAN	P	1133	ENSP00000389140:R1133P	ENSP00000389140:R1133P	R	+	2	0	DCC	49239605	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.376000	0.79658	2.826000	0.97356	0.655000	0.94253	CGG	.		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		C	50985607	G	C	50985607	3	2	31	1	0	0	0	0	1	0	0	0	4291	1116	39	2	3492	2	DCC	18	50985607	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	707128	50985607	27091641	2043	7595											
RAX	30062	hgsc.bcm.edu	37	chr18	56936395	56936395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcgcgagaggTtgcaggccggggcccaacgg	22	12	0	1	rs7226481	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:56936395T>C	ENST00000334889.3	-	3	1068	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	294					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCGCGAGAGGTTGCAGGCCGG	0.771													C|||	1143	0.228235	0.2421	0.1671	5008	,	,		8659	0.129		0.3032	False		,,,				2504	0.2781				p.Q294Q	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.A882G						.	C		688,3078		75,538,1270	4	6	5		882	2.2	0.3	18	dbSNP_116	5	1688,5834		233,1222,2306	no	coding-synonymous	RAX	NM_013435.2		308,1760,3576	CC,CT,TT		22.4408,18.2687,21.0489		294/347	56936395	2376,8912	1883	3761	5644	SO:0001819	synonymous_variant	30062	exon3			GAGAGGTTGCAGG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.882A>G	18.37:g.56936395T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	12	NM_013435	0	0	0	0	0	Q86V11	Silent	SNP	ENST00000334889.3	37	CCDS11972.1																																																																																			T|0.767;C|0.233		0.771	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			C	56936395	T	C	56936395	2	2	31	1	0	0	0	0	0	0	0	1	13141	1722	60	4		4	RAX	18	56936395	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	5950788	56936395	21140853	2044	7596											
CDH20	28316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	59221763	59221763	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttcgactccctccagacGtatatgttcgagggggacgg	12	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:59221763G>T	ENST00000262717.4	+	12	2639	c.2241G>T	c.(2239-2241)acG>acT	p.T747T	CDH20_ENST00000536675.2_Silent_p.T747T|CDH20_ENST00000538374.1_Silent_p.T747T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	747					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)				CCCTCCAGACGTATATGTTCG	0.637																																					p.T747T		.											.	CDH20-155	0			c.G2241T						.						31	27	28					18																	59221763		2202	4300	6502	SO:0001819	synonymous_variant	28316	exon11			CCAGACGTATATG	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.2241G>T	18.37:g.59221763G>T		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	115	54	NM_031891	0	0	0	0	0	Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																			.		0.637	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		T	59221763	G	T	59221763	2	4	31	1	0	0	0	0	0	0	0	1	3113	1132	40	2		2	CDH20	18	59221763	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2285368	59221763	18855485	2045	7597											
TNFRSF11A	8792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	60036089	60036089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcagggcacatgtgtAggaggtggtccctacgcaca	14	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:60036089A>G	ENST00000586569.1	+	9	977	c.939A>G	c.(937-939)gtA>gtG	p.V313V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	313					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCACATGTGTAGGAGGTGGTC	0.517																																					p.V313V		.											.	TNFRSF11A-659	0			c.A939G						.						182	148	160					18																	60036089		2203	4300	6503	SO:0001819	synonymous_variant	8792	exon9			ATGTGTAGGAGGT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.939A>G	18.37:g.60036089A>G		Somatic	224	1		WXS	Illumina GAIIx	Phase_I	237	63	NM_003839	0	0	0	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																			.		0.517	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			G	60036089	A	G	60036089	2	3	31	1	0	0	0	0	0	0	0	1	16331	407	15	4		4	TNFRSF11A	18	60036089	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	814326	60036089	18041159	2046	7598											
SERPINB7	8710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	61460444	61460444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttttctgatataaatgcatCccacaaggattatgatctca	5	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:61460444C>A	ENST00000398019.2	+	4	594	c.269C>A	c.(268-270)tCc>tAc	p.S90Y	SERPINB7_ENST00000336429.2_Missense_Mutation_p.S90Y|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S90Y|SERPINB7_ENST00000540675.1_Missense_Mutation_p.S73Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	90					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATAAATGCATCCCACAAGGAT	0.353																																					p.S90Y		.											.	SERPINB7-226	0			c.C269A						.						111	103	106					18																	61460444		2203	4300	6503	SO:0001583	missense	8710	exon4			ATGCATCCCACAA	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.269C>A	18.37:g.61460444C>A	ENSP00000381101:p.Ser90Tyr	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	89	21	NM_001261830	0	0	0	0	0	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580284	0.28180	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.9	4.01	0.46588	Serpin domain (3);	0.364008	0.24067	N	0.041859	D	0.85401	0.5688	M	0.81239	2.535	0.09310	N	0.999998	P;P	0.46327	0.85;0.876	B;P	0.44597	0.325;0.454	T	0.78809	-0.2058	10	0.66056	D	0.02	.	7.8546	0.29474	0.0:0.7281:0.0:0.2719	.	73;90	F5GZC0;O75635	.;SPB7_HUMAN	Y	90;90;90;73;90;90;90	ENSP00000397301:S90Y;ENSP00000337212:S90Y;ENSP00000381101:S90Y;ENSP00000444572:S73Y;ENSP00000402362:S90Y;ENSP00000444861:S90Y;ENSP00000393947:S90Y	ENSP00000337212:S90Y	S	+	2	0	SERPINB7	59611424	0.940000	0.31905	0.686000	0.30086	0.184000	0.23303	2.539000	0.45718	0.733000	0.32492	0.655000	0.94253	TCC	.		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		A	61460444	C	A	61460444	3	1	31	1	0	0	0	0	1	0	0	0	14151	855	30	3	279	3	SERPINB7	18	61460444	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1424355	61460444	16616804	2047	7599											
SERPINB8	5271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	61654266	61654266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgatcgatgcttttgaCgaagccaaggcagacttttc	11	8	0	3	rs146637081		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:61654266C>A	ENST00000397985.2	+	7	1135	c.879C>A	c.(877-879)gaC>gaA	p.D293E	SERPINB8_ENST00000353706.2_Missense_Mutation_p.D293E|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.D111E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	293					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGCTTTTGACGAAGCCAAGG	0.458																																					p.D293E		.											.	SERPINB8-226	0			c.C879A						.						116	102	107					18																	61654266		2203	4300	6503	SO:0001583	missense	5271	exon7			TTTTGACGAAGCC	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.879C>A	18.37:g.61654266C>A	ENSP00000381072:p.Asp293Glu	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	153	66	NM_198833	0	0	0	0	0	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.140009	0.06669	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.82893	-1.66;-1.66;2.74	5.65	-6.94	0.01633	Serpin domain (3);	0.228496	0.50627	N	0.000113	T	0.53818	0.1820	N	0.13098	0.295	0.19775	N	0.999955	B	0.09022	0.002	B	0.17098	0.017	T	0.59204	-0.7498	10	0.05351	T	0.99	.	4.2916	0.10881	0.2262:0.457:0.1593:0.1575	.	293	P50452	SPB8_HUMAN	E	293;293;111	ENSP00000381072:D293E;ENSP00000331368:D293E;ENSP00000438328:D111E	ENSP00000331368:D293E	D	+	3	2	SERPINB8	59805246	0.000000	0.05858	0.607000	0.28956	0.828000	0.46876	-1.935000	0.01550	-1.416000	0.02019	-2.241000	0.00287	GAC	C|1.000;G|0.000		0.458	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		A	61654266	C	A	61654266	3	1	31	1	0	0	0	0	1	0	0	0	14152	535	19	2	914	2	SERPINB8	18	61654266	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	193822	61654266	16422982	2048	7600											
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	63476945	63476945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaatttttcaccagcttcaCtctgatgttgataaaggaga	8	7	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:63476945C>G	ENST00000397968.2	+	3	642	c.216C>G	c.(214-216)caC>caG	p.H72Q	CDH7_ENST00000323011.3_Missense_Mutation_p.H72Q|CDH7_ENST00000536984.2_Missense_Mutation_p.H72Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	72	Cadherin 1. {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)				ACCAGCTTCACTCTGATGTTG	0.373																																					p.H72Q		.											.	CDH7-94	0			c.C216G						.						77	76	76					18																	63476945		2203	4300	6503	SO:0001583	missense	1005	exon3			GCTTCACTCTGAT	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.216C>G	18.37:g.63476945C>G	ENSP00000381058:p.His72Gln	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	94	40	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538834	0.65085	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.94	5.07	0.68467	Cadherin (2);Cadherin-like (1);	0.242962	0.43260	D	0.000589	T	0.52092	0.1713	L	0.45285	1.41	0.58432	D	0.999999	P;D	0.54397	0.826;0.966	B;P	0.51550	0.291;0.673	T	0.56414	-0.7983	10	0.72032	D	0.01	.	15.1268	0.72489	0.0:0.9326:0.0:0.0674	.	72;72	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	72	ENSP00000319166:H72Q;ENSP00000443030:H72Q;ENSP00000381058:H72Q	ENSP00000319166:H72Q	H	+	3	2	CDH7	61627925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.407000	0.59754	1.532000	0.49169	0.650000	0.86243	CAC	.		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		G	63476945	C	G	63476945	3	3	31	1	0	0	0	0	1	0	0	0	3122	564	20	3	222	3	CDH7	18	63476945	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1822679	63476945	14600303	2049	7601											
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	63511216	63511216	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcacccttgtaccctAtggaggtgtcggaagctacc	9	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:63511216A>T	ENST00000397968.2	+	7	1576	c.1150A>T	c.(1150-1152)Atg>Ttg	p.M384L	CDH7_ENST00000323011.3_Missense_Mutation_p.M384L|CDH7_ENST00000536984.2_Missense_Mutation_p.M384L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	384	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)			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)				CTTGTACCCTATGGAGGTGTC	0.483																																					p.M384L		.											.	CDH7-94	0			c.A1150T						.						172	145	154					18																	63511216		2203	4300	6503	SO:0001583	missense	1005	exon7			TACCCTATGGAGG	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.1150A>T	18.37:g.63511216A>T	ENSP00000381058:p.Met384Leu	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	119	32	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	8.318	0.823738	0.16678	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50277	0.75;0.75;0.75	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.244483	0.43747	D	0.000530	T	0.31420	0.0796	N	0.20357	0.565	0.80722	D	1	B;P	0.36789	0.002;0.57	B;B	0.38106	0.006;0.265	T	0.12528	-1.0544	10	0.05721	T	0.95	.	14.8005	0.69913	1.0:0.0:0.0:0.0	.	384;384	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	384	ENSP00000319166:M384L;ENSP00000443030:M384L;ENSP00000381058:M384L	ENSP00000319166:M384L	M	+	1	0	CDH7	61662196	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.525000	0.90583	2.065000	0.61736	0.533000	0.62120	ATG	.		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63511216	A	T	63511216	3	4	31	1	0	0	0	0	1	0	0	0	3122	449	16	5	1172	5	CDH7	18	63511216	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	34271	63511216	14566032	2050	7602											
CDH19	28513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	64239377	64239377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgagagttttctgttGctccaagacaaggccatagg	11	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:64239377G>T	ENST00000540086.1	-	2	311	c.65C>A	c.(64-66)gCa>gAa	p.A22E	CDH19_ENST00000262150.2_Missense_Mutation_p.A22E	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0					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)				GTTTTCTGTTGCTCCAAGACA	0.423																																					p.A22E		.											.	CDH19-516	0			c.C65A						.						111	102	105					18																	64239377		2203	4299	6502	SO:0001583	missense	28513	exon2			TCTGTTGCTCCAA	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.65C>A	18.37:g.64239377G>T	ENSP00000439593:p.Ala22Glu	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	107	16	NM_021153	0	0	0	0	0	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355542	0.24598	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.55930	0.49;0.5	5.7	1.38	0.22167	.	1.841680	0.02839	N	0.127708	T	0.41351	0.1155	L	0.47716	1.5	0.09310	N	1	B;B	0.30763	0.043;0.294	B;B	0.27887	0.018;0.084	T	0.09773	-1.0659	10	0.12430	T	0.62	.	3.2253	0.06730	0.2189:0.0954:0.5152:0.1706	.	22;22	F5H1K0;Q9H159	.;CAD19_HUMAN	E	22	ENSP00000262150:A22E;ENSP00000439593:A22E	ENSP00000262150:A22E	A	-	2	0	CDH19	62390357	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	0.608000	0.24223	0.322000	0.23283	0.563000	0.77884	GCA	.		0.423	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		T	64239377	G	T	64239377	3	4	31	1	0	0	0	0	1	0	0	0	3111	1319	46	3	2297	3	CDH19	18	64239377	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	728161	64239377	13837871	2051	7603											
DSEL	92126	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	65179129	65179129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatatctgacaccttcCattcacaagcatctacaaat	5	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:65179129C>A	ENST00000310045.7	-	2	4220	c.2747G>T	c.(2746-2748)tGg>tTg	p.W916L	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	906					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGACACCTTCCATTCACAAGC	0.418																																					p.W916L		.											.	DSEL-157	0			c.G2747T						.						79	79	79					18																	65179129		2203	4300	6503	SO:0001583	missense	92126	exon2			ACCTTCCATTCAC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2747G>T	18.37:g.65179129C>A	ENSP00000310565:p.Trp916Leu	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	70	30	NM_032160	0	0	0	0	0	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462494	0.96240	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.30182	1.54	5.13	5.13	0.70059	Sulfotransferase domain (1);	0.144427	0.49916	D	0.000122	T	0.56277	0.1974	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59804	-0.7385	10	0.72032	D	0.01	-6.8769	18.5756	0.91154	0.0:1.0:0.0:0.0	.	906	Q8IZU8	DSEL_HUMAN	L	916;906	ENSP00000310565:W916L	ENSP00000310565:W916L	W	-	2	0	DSEL	63330109	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.717000	0.84732	2.384000	0.81235	0.563000	0.77884	TGG	.		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		A	65179129	C	A	65179129	3	1	31	1	0	0	0	0	1	0	0	0	4789	595	21	3	925	3	DSEL	18	65179129	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	939752	65179129	12898119	2052	7604											
CCDC102B	79839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	66564598	66564598	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttttggataagaaaaataGattaagtgcaaactctcaaa	7	5	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:66564598G>T	ENST00000360242.5	+	6	1313	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R399I|RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R399I|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R399I|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	399										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)				AAGAAAAATAGATTAAGTGCA	0.388																																					p.R399I		.											.	CCDC102B-93	0			c.G1196T						.						132	149	143					18																	66564598		2203	4300	6503	SO:0001583	missense	79839	exon8			AAAATAGATTAAG	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.1196G>T	18.37:g.66564598G>T	ENSP00000353377:p.Arg399Ile	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	49	8	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862837	0.17178	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.20598	2.58;2.06;2.58	5.43	1.09	0.20402	.	1.164090	0.06056	N	0.657460	T	0.22742	0.0549	L	0.59436	1.845	0.09310	N	1	P;P	0.40398	0.716;0.716	B;B	0.40285	0.325;0.325	T	0.26360	-1.0105	10	0.87932	D	0	0.6223	3.9765	0.09476	0.1086:0.3233:0.4433:0.1247	.	399;399	Q68D86-3;Q68D86	.;C102B_HUMAN	I	399	ENSP00000316237:R399I;ENSP00000351479:R399I;ENSP00000353377:R399I	ENSP00000316237:R399I	R	+	2	0	CCDC102B	64715578	.	.	0.000000	0.03702	0.003000	0.03518	.	.	0.161000	0.19458	0.561000	0.74099	AGA	.		0.388	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66564598	G	T	66564598	3	4	31	1	0	0	0	0	1	0	0	0	2744	942	33	3	1214	3	CCDC102B	18	66564598	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1385469	66564598	11512650	2053	7605											
CCDC102B	79839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr18	66721282	66721282	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttgatgattccctgAatcagatccgtaagctccag	8	11	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:66721282A>T	ENST00000360242.5	+	8	1567	c.1450A>T	c.(1450-1452)Aat>Tat	p.N484Y	CCDC102B_ENST00000319445.6_Missense_Mutation_p.N484Y	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	484										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)				TGATTCCCTGAATCAGATCCG	0.368																																					p.N484Y		.											.	CCDC102B-93	0			c.A1450T						.						83	79	80					18																	66721282		2203	4300	6503	SO:0001583	missense	79839	exon10			TCCCTGAATCAGA	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.1450A>T	18.37:g.66721282A>T	ENSP00000353377:p.Asn484Tyr	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	22	5	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	9.470	1.095330	0.20471	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.24908	1.83;1.83	5.05	1.69	0.24217	.	1.137880	0.06875	U	0.801415	T	0.35913	0.0948	M	0.71871	2.18	0.09310	N	1	P	0.43701	0.815	P	0.48840	0.592	T	0.20438	-1.0275	10	0.54805	T	0.06	-3.0007	4.0699	0.09877	0.6494:0.1862:0.1644:0.0	.	484	Q68D86	C102B_HUMAN	Y	484	ENSP00000316237:N484Y;ENSP00000353377:N484Y	ENSP00000316237:N484Y	N	+	1	0	CCDC102B	64872262	1.000000	0.71417	0.002000	0.10522	0.086000	0.17979	2.522000	0.45572	0.051000	0.15978	0.372000	0.22366	AAT	.		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66721282	A	T	66721282	3	4	31	1	0	0	0	0	1	0	0	0	2744	246	9	5	1476	5	CCDC102B	18	66721282	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	156684	66721282	11355966	2054	7606											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	31	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3488039	70209321	7867927	2055	7607											
NETO1	81832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	70526196	70526196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagaaacgtccaattattgGagaaaagccaaaaggtccat	8	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:70526196G>T	ENST00000327305.6	-	4	991	c.334C>A	c.(334-336)Cca>Aca	p.P112T	NETO1_ENST00000299430.2_Missense_Mutation_p.P111T|NETO1_ENST00000583169.1_Missense_Mutation_p.P112T|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.P111T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	112	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.P112T(1)|p.P111T(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)		CCAATTATTGGAGAAAAGCCA	0.373																																					p.P112T		.											.	NETO1-94	2	Substitution - Missense(2)	lung(2)	c.C334A						.						94	94	94					18																	70526196		2203	4300	6503	SO:0001583	missense	81832	exon4			TTATTGGAGAAAA	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.334C>A	18.37:g.70526196G>T	ENSP00000313088:p.Pro112Thr	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	124	49	NM_001201465	0	0	0	0	0	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623942	0.66901	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.35973	1.28;1.28;1.51	5.35	5.35	0.76521	CUB (5);	0.207467	0.33005	N	0.005385	T	0.61763	0.2373	M	0.72353	2.195	0.80722	D	1	D;P;D	0.76494	0.989;0.665;0.999	P;P;D	0.78314	0.801;0.507;0.991	T	0.62905	-0.6755	10	0.59425	D	0.04	0.013	19.438	0.94806	0.0:0.0:1.0:0.0	.	111;111;112	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	T	112;111;111	ENSP00000313088:P112T;ENSP00000299430:P111T;ENSP00000381024:P111T	ENSP00000299430:P111T	P	-	1	0	NETO1	68677176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.745000	0.98856	2.672000	0.90937	0.655000	0.94253	CCA	.		0.373	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		T	70526196	G	T	70526196	3	4	31	1	0	0	0	0	1	0	0	0	10378	1174	41	3	1304	3	NETO1	18	70526196	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	316875	70526196	7551052	2056	7608											
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	72775251	72775251	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaggaggccagcgccGccccctgagcaggtgcagca	15	15	0	1	rs377247781		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:72775251G>T	ENST00000299687.5	+	8	5574	c.5574G>T	c.(5572-5574)ccG>ccT	p.P1858P		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1858					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)		GGCCAGCGCCGCCCCCTGAGC	0.677																																					p.P1858P		.											.	ZNF407-92	0			c.G5574T						.						44	58	53					18																	72775251		2061	4210	6271	SO:0001819	synonymous_variant	55628	exon8			AGCGCCGCCCCCT	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.5574G>T	18.37:g.72775251G>T		Somatic	203	0		WXS	Illumina GAIIx	Phase_I	253	62	NM_017757	0	0	0	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			.		0.677	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72775251	G	T	72775251	2	4	31	1	0	0	0	0	0	0	0	1	17935	1074	38	2		2	ZNF407	18	72775251	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2249055	72775251	5301997	2057	7609											
CTDP1	9150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	77475469	77475469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagcgaagatcctcactcGgctggtgctgagccccgacg	15	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:77475469G>T	ENST00000299543.7	+	8	2156	c.2009G>T	c.(2008-2010)cGg>cTg	p.R670L	CTDP1_ENST00000075430.7_Missense_Mutation_p.R670L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	670	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATCCTCACTCGGCTGGTGCTG	0.652																																					p.R670L		.											.	CTDP1-90	0			c.G2009T						.						20	18	18					18																	77475469		2196	4295	6491	SO:0001583	missense	9150	exon8			TCACTCGGCTGGT	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2009G>T	18.37:g.77475469G>T	ENSP00000299543:p.Arg670Leu	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	112	46	NM_004715	0	0	0	0	0	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	9.627	1.135452	0.21123	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	D;D	0.82984	-1.67;-1.67	4.52	2.14	0.27477	BRCT (3);	0.501324	0.22822	N	0.055203	T	0.67896	0.2942	L	0.29908	0.895	0.23162	N	0.998193	B;B;B	0.31581	0.208;0.329;0.248	B;B;B	0.28784	0.057;0.082;0.094	T	0.54675	-0.8258	10	0.32370	T	0.25	-19.1325	5.0881	0.14693	0.6767:0.1532:0.1701:0.0	.	551;670;670	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	L	670	ENSP00000299543:R670L;ENSP00000075430:R670L	ENSP00000075430:R670L	R	+	2	0	CTDP1	75576457	0.999000	0.42202	0.599000	0.28851	0.283000	0.27025	1.470000	0.35354	0.235000	0.21160	-0.379000	0.06801	CGG	.		0.652	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77475469	G	T	77475469	3	4	31	1	0	0	0	0	1	0	0	0	4011	1116	39	2	2039	2	CTDP1	18	77475469	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4700218	77475469	601779	2058	7610											
STK11	6794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	1220443	1220443	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcacaaggacatcaagcCggggaacctgctgctcacca	11	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:1220443C>G	ENST00000326873.7	+	4	1709	c.536C>G	c.(535-537)cCg>cGg	p.P179R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.P179L(1)|p.K178fs*86(1)		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)		GACATCAAGCCGGGGAACCTG	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.P179R		.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	.	STK11-5227	30	Whole gene deletion(20)|Deletion - Frameshift(5)|Unknown(4)|Substitution - Missense(1)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|prostate(1)|kidney(1)|pancreas(1)	c.C536G						.						44	52	49					19																	1220443		2095	4239	6334	SO:0001583	missense	6794	exon4	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	TCAAGCCGGGGAA	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.536C>G	19.37:g.1220443C>G	ENSP00000324856:p.Pro179Arg	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	183	107	NM_000455	0	0	0	0	0	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514944	0.64634	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90069	-2.61	5.6	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98018	1.0369	10	0.87932	D	0	-24.0845	13.8611	0.63561	0.0:0.9262:0.0:0.0738	.	179	Q15831	STK11_HUMAN	R	179	ENSP00000324856:P179R	ENSP00000324856:P179R	P	+	2	0	STK11	1171443	1.000000	0.71417	0.880000	0.34516	0.282000	0.26991	7.712000	0.84684	1.375000	0.46248	0.561000	0.74099	CCG	.		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		G	1220443	C	G	1220443	3	3	31	1	0	0	0	0	1	0	0	0	15334	652	23	2	550	2	STK11	19	1220443	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		1220443	57908540	2059	7611											
OAZ1	4946	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	2271846	2271846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaggattctcaacgtccaGtccaggctcacagacgccaa	9	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:2271846G>T	ENST00000602676.2	+	4	436	c.357G>T	c.(355-357)caG>caT	p.Q119H	OAZ1_ENST00000582888.4_Missense_Mutation_p.Q117H|OAZ1_ENST00000322297.4_Missense_Mutation_p.Q118H|JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000583542.4_Missense_Mutation_p.Q119H|OAZ1_ENST00000588673.2_Missense_Mutation_p.Q148H			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	119					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	TCAACGTCCAGTCCAGGCTCA	0.587																																					.		.											.	OAZ1-68	0			.						.						59	61	61					19																	2271846		2132	4241	6373	SO:0001583	missense	4946	.			CGTCCAGTCCAGG		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.357G>T	19.37:g.2271846G>T	ENSP00000473381:p.Gln119His	Somatic	216	2		WXS	Illumina GAIIx	Phase_I	206	132	.	0	0	0	0	0	O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718128	0.48622	.	.	ENSG00000104904	ENST00000322297	T	0.30714	1.52	4.4	4.4	0.53042	Acyl-CoA N-acyltransferase (1);	0.111909	0.64402	D	0.000008	T	0.27900	0.0687	L	0.46741	1.465	0.53688	D	0.999974	B	0.22003	0.063	B	0.27262	0.078	T	0.09058	-1.0692	10	0.46703	T	0.11	.	9.756	0.40504	0.0966:0.0:0.9034:0.0	.	119	P54368	OAZ1_HUMAN	H	118	ENSP00000314813:Q118H	ENSP00000314813:Q118H	Q	+	3	2	OAZ1	2222846	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.285000	0.51716	1.984000	0.57885	0.462000	0.41574	CAG	.		0.587	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		T	2271846	G	T	2271846	3	4	31	1	0	0	0	0	1	0	0	0	10843	1020	36	3	368	3	OAZ1	19	2271846	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1051403	2271846	56857137	2060	7612											
SGTA	6449	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	2757762	2757762	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggggttgttgccaccCgaaatcatgccggacatgct	11	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:2757762C>A	ENST00000221566.2	-	10	917	c.756G>T	c.(754-756)tcG>tcT	p.S252S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTGCCACCCGAAATCATGC	0.667																																					p.S252S		.											.	SGTA-91	0			c.G756T						.						85	68	74					19																	2757762		2202	4300	6502	SO:0001819	synonymous_variant	6449	exon10			GCCACCCGAAATC	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.756G>T	19.37:g.2757762C>A		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	91	58	NM_003021	0	0	0	0	0	D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	CCDS12094.1																																																																																			.		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		A	2757762	C	A	2757762	2	1	31	1	0	0	0	0	0	0	0	1	14270	639	23	2		2	SGTA	19	2757762	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	485916	2757762	56371221	2061	7613											
NFIC	4782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3449047	3449047	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagacagagatggacAagtcaccattcaacagcccg	10	10	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:3449047A>T	ENST00000443272.2	+	7	1045	c.994A>T	c.(994-996)Aag>Tag	p.K332*	NFIC_ENST00000590282.1_Nonsense_Mutation_p.K332*|NFIC_ENST00000341919.3_Nonsense_Mutation_p.K332*|NFIC_ENST00000395111.3_Nonsense_Mutation_p.K323*|NFIC_ENST00000589123.1_Nonsense_Mutation_p.K323*|NFIC_ENST00000346156.5_Nonsense_Mutation_p.K299*|NFIC_ENST00000586919.1_Nonsense_Mutation_p.K299*	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	332					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGAGATGGACAAGTCACCATT	0.642																																					p.K332X		.											.	NFIC-226	0			c.A994T						.						134	104	114					19																	3449047		2203	4300	6503	SO:0001587	stop_gained	4782	exon7			ATGGACAAGTCAC	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.994A>T	19.37:g.3449047A>T	ENSP00000396843:p.Lys332*	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	145	88	NM_001245004	0	0	0	0	0	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Nonsense_Mutation	SNP	ENST00000443272.2	37	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	A	37	6.118158	0.97300	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	.	.	.	3.96	3.96	0.45880	.	0.287191	0.32548	N	0.005946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6991	0.51560	1.0:0.0:0.0:0.0	.	.	.	.	X	323;323;299;332;332;332	.	ENSP00000269778:K332X	K	+	1	0	NFIC	3400047	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.320000	0.72876	1.441000	0.47550	0.459000	0.35465	AAG	.		0.642	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		T	3449047	A	T	3449047	4	4	31	1	0	0	0	0	0	1	0	0	10411	131	5	5	1027	5	NFIC	19	3449047	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	691285	3449047	55679936	2062	7614											
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	5239001	5239001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgagcgggccgccaggCggaaggcgtactccgtgttg	19	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:5239001C>A	ENST00000587303.1	-	12	1877	c.1778G>T	c.(1777-1779)cGc>cTc	p.R593L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R589L|PTPRS_ENST00000588012.1_Missense_Mutation_p.R580L|PTPRS_ENST00000592099.1_Missense_Mutation_p.R580L|PTPRS_ENST00000372412.4_Missense_Mutation_p.R594L|PTPRS_ENST00000348075.2_Missense_Mutation_p.R580L|PTPRS_ENST00000353284.2_Missense_Mutation_p.R580L|PTPRS_ENST00000357368.4_Missense_Mutation_p.R593L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	593	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCCGCCAGGCGGAAGGCGTA	0.697																																					p.R593L		.											.	PTPRS-357	0			c.G1778T						.						58	52	54					19																	5239001		2203	4300	6503	SO:0001583	missense	5802	exon13			GCCAGGCGGAAGG	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.1778G>T	19.37:g.5239001C>A	ENSP00000467537:p.Arg593Leu	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	118	66	NM_002850	0	0	0	0	0	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561974	0.65538	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101468	0.40554	U	0.001069	T	0.64283	0.2584	M	0.79926	2.475	0.24599	N	0.993785	B;P;B;B;P;P	0.41188	0.365;0.741;0.391;0.124;0.652;0.595	B;B;B;B;P;B	0.47402	0.325;0.325;0.325;0.07;0.546;0.386	T	0.57906	-0.7730	10	0.38643	T	0.18	.	10.1048	0.42526	0.0:0.9003:0.0:0.0997	.	593;580;584;580;593;606	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	606;594;593;593;593;589;580;593;584;580	ENSP00000361489:R594L;ENSP00000349932:R593L;ENSP00000262963:R589L;ENSP00000269907:R580L;ENSP00000327313:R580L	ENSP00000262963:R589L	R	-	2	0	PTPRS	5190001	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.751000	0.55165	1.786000	0.52430	0.305000	0.20034	CGC	.		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5239001	C	A	5239001	3	1	31	1	0	0	0	0	1	0	0	0	12856	768	27	2	4172	2	PTPRS	19	5239001	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1789954	5239001	53889982	2063	7615											
MLLT1	4298	hgsc.bcm.edu	37	chr19	6214015	6214015	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcagggaggagtcggCgctgttgtcactctcgctgt	17	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6214015C>A	ENST00000252674.7	-	9	1505	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	448					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GAGGAGTCGGCGCTGTTGTCA	0.721			T	MLL	AL																																p.A448S		.		Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	.	MLLT1-658	0			c.G1342T						.						5	8	7					19																	6214015		2106	4186	6292	SO:0001583	missense	4298	exon9			AGTCGGCGCTGTT		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1342G>T	19.37:g.6214015C>A	ENSP00000252674:p.Ala448Ser	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_005934	0	0	0	0	0	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	c	4.484	0.089822	0.08632	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.53	4.53	0.55603	.	0.384552	0.27306	N	0.019973	T	0.43590	0.1254	L	0.37750	1.13	0.36689	D	0.879483	B	0.20261	0.043	B	0.23275	0.045	T	0.40776	-0.9545	9	0.02654	T	1	-5.6205	14.0319	0.64619	0.0:1.0:0.0:0.0	.	448	Q03111	ENL_HUMAN	S	448	.	ENSP00000252674:A448S	A	-	1	0	MLLT1	6165015	0.950000	0.32346	0.180000	0.23079	0.242000	0.25591	4.039000	0.57325	2.075000	0.62263	0.556000	0.70494	GCC	.		0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		A	6214015	C	A	6214015	3	1	31	1	0	0	0	0	1	0	0	0	9663	768	27	2	353	2	MLLT1	19	6214015	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	975014	6214015	52914968	2064	7616											
KHSRP	8570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6416662	6416662	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctttcacattctcgccacCtgcagaaacgcagaaggtga	10	12	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6416662C>A	ENST00000398148.3	-	14	1420		c.e14-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCTCGCCACCTGCAGAAACG	0.602																																					.	Colon(55;593 1006 2067 9135 22980)	.											.	KHSRP-226	0			c.1328-1G>T						.						38	42	41					19																	6416662		2019	4178	6197	SO:0001630	splice_region_variant	8570	exon15			CGCCACCTGCAGA	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1328-1G>T	19.37:g.6416662C>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	78	43	NM_003685	0	0	0	0	0	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435605	0.62955	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1414	0.86755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367662	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	5.766000	0.68843	2.322000	0.78497	0.655000	0.94253	.	.		0.602	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron	A	6416662	C	A	6416662	5	1	31	1	0	0	0	0	0	0	1	0	8178	695	24	3	836	3	KHSRP	19	6416662	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	202647	6416662	52712321	2065	7617											
VAV1	7409	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	6853959	6853959	+	Splice_Site	DEL	G	G	-													ttctgttctctctccacagtGggaagcacaaagtattttgg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6853959delG	ENST00000602142.1	+	26	2416	c.2334delG	c.(2332-2334)gtg>gt	p.V778fs	VAV1_ENST00000304076.2_Splice_Site_p.V756fs|VAV1_ENST00000599806.1_Splice_Site_p.V723fs|VAV1_ENST00000539284.1_Splice_Site_p.V681fs|VAV1_ENST00000596764.1_Splice_Site_p.V746fs	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	778					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTCCACAGTGGGAAGCACAA	0.537																																					p.V778fs		.											.	VAV1-1276	0			c.2334delG						.						87	82	84					19																	6853959		2203	4300	6503	SO:0001630	splice_region_variant	7409	exon26			CACAGTGGGAAGC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2333-1G>-	19.37:g.6853959delG		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	23	17	NM_005428	0	0	0	0	0	B4DVK9|M0QXX6|Q15860	Frame_Shift_Del	DEL	ENST00000602142.1	37	CCDS12174.1																																																																																			.		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Frame_Shift_Del	-	6853959	G	-	6853959	8	5	31	1	0	1	0	1	0	0	1	0	17180	1362	47	0	2436	0	VAV1	19	6853959	Splice_Site	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	437297	6853959	52275024	2066	7618											
ZNF358	140467	hgsc.bcm.edu	37	chr19	7585011	7585011	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggccctacccgtgtccgCagtgcggcaaggccttcggg	15	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:7585011C>T	ENST00000597229.1	+	2	1053	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Nonsense_Mutation_p.Q295*	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	295					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCCGTGTCCGCAGTGCGGCAA	0.716																																					p.Q295X		.											.	ZNF358-90	0			c.C883T						.						12	14	13					19																	7585011		2181	4258	6439	SO:0001587	stop_gained	140467	exon2			TGTCCGCAGTGCG	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.883C>T	19.37:g.7585011C>T	ENSP00000472305:p.Gln295*	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	17	NM_018083	0	0	0	0	0	Q9BTM7	Nonsense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	37	6.609286	0.97701	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-19.8575	11.1846	0.48648	0.0:0.8132:0.1868:0.0	.	.	.	.	X	295	.	ENSP00000354703:Q295X	Q	+	1	0	ZNF358	7491011	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	-0.224000	0.09164	2.265000	0.75225	0.462000	0.41574	CAG	.		0.716	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			T	7585011	C	T	7585011	4	4	31	1	0	0	0	0	0	1	0	0	17915	711	25	3	885	3	ZNF358	19	7585011	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	731052	7585011	51543972	2067	7619											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9060203	9060203	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggagaacctgtttgGgtggtaatggtcatttctgt	13	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9060203G>T	ENST00000397910.4	-	3	27446	c.27243C>A	c.(27241-27243)acC>acA	p.T9081T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9083	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						AACCTGTTTGGGTGGTAATGG	0.468																																					p.T9081T		.											.	MUC16-566	0			c.C27243A						.						186	173	177					19																	9060203		1936	4141	6077	SO:0001819	synonymous_variant	94025	exon3			TGTTTGGGTGGTA	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.27243C>A	19.37:g.9060203G>T		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	115	71	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9060203	G	T	9060203	2	4	31	1	0	0	0	0	0	0	0	1	10011	1219	43	3		3	MUC16	19	9060203	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1475192	9060203	50068780	2068	7620											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9062539	9062539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtggttatcaccaggcCagggttgagaagagaagtca	14	7	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9062539C>A	ENST00000397910.4	-	3	25110	c.24907G>T	c.(24907-24909)Ggc>Tgc	p.G8303C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8305	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						ATCACCAGGCCAGGGTTGAGA	0.507																																					p.G8303C		.											.	MUC16-566	0			c.G24907T						.						89	84	86					19																	9062539		1947	4148	6095	SO:0001583	missense	94025	exon3			CCAGGCCAGGGTT	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.24907G>T	19.37:g.9062539C>A	ENSP00000381008:p.Gly8303Cys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	94	54	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.622	0.115543	0.08831	.	.	ENSG00000181143	ENST00000397910	T	0.40225	1.04	2.78	-1.12	0.09808	.	.	.	.	.	T	0.48607	0.1509	L	0.50333	1.59	.	.	.	D	0.71674	0.998	D	0.64237	0.923	T	0.55095	-0.8194	8	0.87932	D	0	.	5.4991	0.16819	0.0:0.4332:0.0:0.5668	.	8303	B5ME49	.	C	8303	ENSP00000381008:G8303C	ENSP00000381008:G8303C	G	-	1	0	MUC16	8923539	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.163000	0.09997	-0.161000	0.10983	0.385000	0.25706	GGC	.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9062539	C	A	9062539	3	1	31	1	0	0	0	0	1	0	0	0	10011	594	21	3	18944	3	MUC16	19	9062539	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2336	9062539	50066444	2069	7621											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9070334	9070334	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggcttctgtgtgcgcAgtgtctttgtaagtggtcag	14	7	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9070334A>T	ENST00000397910.4	-	3	17315	c.17112T>A	c.(17110-17112)acT>acA	p.T5704T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5706	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						CTGTGTGCGCAGTGTCTTTGT	0.507																																					p.T5704T		.											.	MUC16-566	0			c.T17112A						.						166	161	163					19																	9070334		2093	4211	6304	SO:0001819	synonymous_variant	94025	exon3			GTGCGCAGTGTCT	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.17112T>A	19.37:g.9070334A>T		Somatic	271	0		WXS	Illumina GAIIx	Phase_I	188	104	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9070334	A	T	9070334	2	4	31	1	0	0	0	0	0	0	0	1	10011	175	7	5		5	MUC16	19	9070334	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	7795	9070334	50058649	2070	7622											
MUC16	94025	bcgsc.ca	37	chr19	9090531	9090531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaagttccttctgtTtcctttccactcgtggagtg	8	10	2	0	rs12976721	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9090531T>C	ENST00000397910.4	-	1	1487	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	428	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E428E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTTCTGTTTCCTTTCCAC	0.502													T|||	1082	0.216054	0.27	0.2248	5008	,	,		21630	0.0228		0.3091	False		,,,				2504	0.2403				p.E428E		.											.	MUC16-566	2	Substitution - coding silent(2)	prostate(2)	c.A1284G						.	T		1019,2945		145,729,1108	152	141	145		1284	-2.8	0	19	dbSNP_121	145	2733,5603		459,1815,1894	no	coding-synonymous	MUC16	NM_024690.2		604,2544,3002	CC,CT,TT		32.7855,25.7064,30.5041		428/14508	9090531	3752,8548	1982	4168	6150	SO:0001819	synonymous_variant	94025	exon1			TTCTGTTTCCTTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1284A>G	19.37:g.9090531T>C		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	103	5	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			T|0.772;C|0.228		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9090531	T	C	9090531	2	2	31	1	0	0	0	0	0	0	0	1	10011	1838	64	4		4	MUC16	19	9090531	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	20197	9090531	50038452	2071	7623											
COL5A3	50509	broad.mit.edu;mdanderson.org	37	chr19	10097029	10097029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcccctcctcgccagCctgccccgcctgccccttcg	11	22	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10097029C>A	ENST00000264828.3	-	30	2399	c.2314G>T	c.(2314-2316)Gct>Tct	p.A772S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	772	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTCGCCAGCCTGCCCCGCC	0.612																																					p.A772S		.											.	COL5A3-99	0			c.G2314T						.						18	23	22					19																	10097029		2198	4298	6496	SO:0001583	missense	50509	exon30			CGCCAGCCTGCCC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2314G>T	19.37:g.10097029C>A	ENSP00000264828:p.Ala772Ser	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	29	20	NM_015719	0	0	0	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	2.146	-0.395631	0.04899	.	.	ENSG00000080573	ENST00000264828	D	0.93247	-3.19	4.32	-4.03	0.04021	.	1.037590	0.07640	N	0.930120	D	0.86556	0.5961	N	0.16307	0.4	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.67264	-0.5714	10	0.21540	T	0.41	.	17.9747	0.89123	0.0:0.1989:0.8011:0.0	.	772	P25940	CO5A3_HUMAN	S	772	ENSP00000264828:A772S	ENSP00000264828:A772S	A	-	1	0	COL5A3	9958029	0.000000	0.05858	0.037000	0.18230	0.614000	0.37383	-3.704000	0.00388	-0.131000	0.11578	0.462000	0.41574	GCT	.		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10097029	C	A	10097029	3	1	31	1	0	0	0	0	1	0	0	0	3705	739	26	3	3075	3	COL5A3	19	10097029	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1006498	10097029	49031954	2072	7624											
COL5A3	50509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10106750	10106750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaagtctcacctgtggccCttctgctccctcctctcctt	5	19	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10106750C>A	ENST00000264828.3	-	15	1610	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	509	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGTGGCCCTTCTGCTCCC	0.562																																					p.G509W		.											.	COL5A3-99	0			c.G1525T						.						230	201	211					19																	10106750		2203	4300	6503	SO:0001583	missense	50509	exon15			GTGGCCCTTCTGC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1525G>T	19.37:g.10106750C>A	ENSP00000264828:p.Gly509Trp	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	149	85	NM_015719	0	0	0	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312671	0.40895	.	.	ENSG00000080573	ENST00000264828	D	0.99537	-6.11	5.56	4.52	0.55395	.	0.000000	0.64402	U	0.000001	D	0.99778	0.9908	H	0.98646	4.29	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.97199	0.9863	10	0.87932	D	0	.	11.8005	0.52124	0.1755:0.8245:0.0:0.0	.	509	P25940	CO5A3_HUMAN	W	509	ENSP00000264828:G509W	ENSP00000264828:G509W	G	-	1	0	COL5A3	9967750	0.998000	0.40836	0.884000	0.34674	0.009000	0.06853	4.470000	0.60175	1.348000	0.45733	-0.182000	0.12963	GGG	.		0.562	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10106750	C	A	10106750	3	1	31	1	0	0	0	0	1	0	0	0	3705	681	24	3	3924	3	COL5A3	19	10106750	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9721	10106750	49022233	2073	7625											
TYK2	7297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	10476223	10476223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctcctcctctactggCcaccactggatgccaccagt	6	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10476223C>T	ENST00000525621.1	-	7	1462	c.981G>A	c.(979-981)tgG>tgA	p.W327*	TYK2_ENST00000264818.6_Nonsense_Mutation_p.W327*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.W327*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.W142*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	327	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			CCTCTACTGGCCACCACTGGA	0.647																																					p.W327X		.											.	TYK2-1009	0			c.G981A						.						65	79	74					19																	10476223		2203	4300	6503	SO:0001587	stop_gained	7297	exon7			TACTGGCCACCAC		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.981G>A	19.37:g.10476223C>T	ENSP00000431885:p.Trp327*	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	78	32	NM_003331	0	0	0	0	0	Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.329560|6.329560	0.97480|0.97480	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.|.	.|.	.|.	5.18|5.18	-1.39|-1.39	0.08997|0.08997	.|.	.|0.568641	.|0.14184	.|N	.|0.335785	T|.	0.27832|.	0.0685|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24870|.	-1.0148|.	3|.	.|0.37606	.|T	.|0.19	-19.7162|-19.7162	1.2146|1.2146	0.01911|0.01911	0.2824:0.2971:0.2603:0.1601|0.2824:0.2971:0.2603:0.1601	.|.	.|.	.|.	.|.	D|X	106|142;327;327;74;327	.|.	.|ENSP00000264818:W327X	G|W	-|-	2|3	0|0	TYK2|TYK2	10337223|10337223	0.884000|0.884000	0.30299|0.30299	0.114000|0.114000	0.21550|0.21550	0.088000|0.088000	0.18126|0.18126	0.347000|0.347000	0.20014|0.20014	-0.393000|-0.393000	0.07739|0.07739	-0.258000|-0.258000	0.10820|0.10820	GGC|TGG	.		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			T	10476223	C	T	10476223	4	4	31	1	0	0	0	0	0	1	0	0	16859	740	26	3	2658	3	TYK2	19	10476223	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	369473	10476223	48652760	2074	7626											
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11150201	11150201	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctacaattccagcgtgGccttcagttctgcacacgtg	11	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:11150201G>A	ENST00000429416.3	+	31	4451				SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1413D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000450717.3_Intron|SMARCA4_ENST00000344626.4_Intron|SMARCA4_ENST00000444061.3_Intron	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						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)				TTCCAGCGTGGCCTTCAGTTC	0.507			"F, N, Mis"		NSCLC																																p.G1413D		.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.G4238A						.						69	63	65					19																	11150201		1566	3580	5146	SO:0001627	intron_variant	6597	exon30			AGCGTGGCCTTCA	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.4171-1782G>A	19.37:g.11150201G>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	65	39	NM_001128849	0	0	0	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.30|11.30	1.597375|1.597375	0.28445|0.28445	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000358026|ENST00000538456	D|.	0.86297|.	-2.1|.	0.727|0.727	0.727|0.727	0.18254|0.18254	.|.	.|.	.|.	.|.	.|.	T|.	0.17023|.	0.0409|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	D|.	0.65010|.	0.931|.	T|.	0.28650|.	-1.0037|.	8|.	0.18276|.	T|.	0.48|.	.|.	.|.	.|.	.|.	.|.	1413|.	Q9HBD4|.	.|.	D|X	1413|149	ENSP00000350720:G1413D|.	ENSP00000350720:G1413D|.	G|W	+|+	2|3	0|0	SMARCA4|SMARCA4	11011201|11011201	0.002000|0.002000	0.14202|0.14202	0.005000|0.005000	0.12908|0.12908	0.970000|0.970000	0.65996|0.65996	0.727000|0.727000	0.25999|0.25999	0.662000|0.662000	0.31006|0.31006	0.313000|0.313000	0.20887|0.20887	GGC|TGG	.		0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11150201	G	A	11150201	1	1	31	0	1	0	0	0	0	0	0	0	14815	1203	42	3		3	SMARCA4	19	11150201	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	673978	11150201	47978782	2075	7627											
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13565966	13565966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatcaggcagatgctgCtccagtgcgaggacgatgca	12	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:13565966C>A	ENST00000360228.5	-	2	353	c.354G>T	c.(352-354)gaG>gaT	p.E118D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E118D	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	118					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)	GCAGATGCTGCTCCAGTGCGA	0.433																																					p.E118D		.											.	CACNA1A-67	0			c.G354T						.						195	194	194					19																	13565966		2046	4219	6265	SO:0001583	missense	773	exon2			ATGCTGCTCCAGT	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.354G>T	19.37:g.13565966C>A	ENSP00000353362:p.Glu118Asp	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	96	55	NM_001127222	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165713	0.57476	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.74632	-0.86	5.01	3.96	0.45880	.	0.000000	0.64402	D	0.000001	D	0.82889	0.5135	M	0.79123	2.44	0.41632	D	0.98902	D;D	0.76494	0.991;0.999	P;P	0.61070	0.754;0.883	D	0.85173	0.0999	10	0.72032	D	0.01	.	12.0934	0.53739	0.0:0.914:0.0:0.086	.	118;118	O00555;Q9NS88	CAC1A_HUMAN;.	D	118	ENSP00000353362:E118D	ENSP00000317661:E118D	E	-	3	2	CACNA1A	13426966	0.909000	0.30893	1.000000	0.80357	0.867000	0.49689	0.058000	0.14301	2.489000	0.83994	0.655000	0.94253	GAG	.		0.433	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13565966	C	A	13565966	3	1	31	1	0	0	0	0	1	0	0	0	2545	796	28	3	7464	3	CACNA1A	19	13565966	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2415765	13565966	45563017	2076	7628											
SLC1A6	6511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	15083539	15083539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccacggcgctgaccgTcagcagaatgaaggcgtttc	12	11	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15083539T>A	ENST00000221742.3	-	1	191	c.184A>T	c.(184-186)Acg>Tcg	p.T62S	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66V|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62S|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T62S|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	62					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)	p.T62A(1)		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						GCGCTGACCGTCAGCAGAATG	0.627																																					p.T62S		.											.	SLC1A6-186	1	Substitution - Missense(1)	prostate(1)	c.A184T						.						29	29	29					19																	15083539		2202	4298	6500	SO:0001583	missense	6511	exon4			TGACCGTCAGCAG		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.184A>T	19.37:g.15083539T>A	ENSP00000221742:p.Thr62Ser	Somatic	227	1		WXS	Illumina GAIIx	Phase_I	321	145	NM_001272087	0	0	0	0	0	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.56|16.56	3.157991|3.157991	0.57368|0.57368	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.75477|0.59906	-0.94|0.23;0.23	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70413|0.70413	0.3221|0.3221	M|M	0.71581|0.71581	2.175|2.175	0.49915|0.49915	D|D	0.99983|0.99983	P|D;D;D	0.36789|0.65815	0.57|0.995;0.995;0.972	B|D;D;P	0.42319|0.73380	0.383|0.98;0.971;0.773	T|T	0.68780|0.68780	-0.5318|-0.5318	9|10	0.87932|0.30854	D|T	0|0.27	-25.7488|-25.7488	10.0207|10.0207	0.42041|0.42041	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	66|62;63;62	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	V|S	66|62;62;63	ENSP00000409386:D66V|ENSP00000221742:T62S;ENSP00000446175:T62S	ENSP00000409386:D66V|ENSP00000221742:T62S	D|T	-|-	2|1	0|0	SLC1A6|SLC1A6	14944539|14944539	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.804000|0.804000	0.45430|0.45430	6.264000|6.264000	0.72527|0.72527	1.868000|1.868000	0.54150|0.54150	0.260000|0.260000	0.18958|0.18958	GAC|ACG	.		0.627	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15083539	T	A	15083539	3	1	31	1	0	0	0	0	1	0	0	0	14481	1667	58	5	1546	5	SLC1A6	19	15083539	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1517573	15083539	44045444	2077	7629											
PGLYRP2	114770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	15586650	15586650	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaggatgaccccatcCagggcgccattgaggaaggc	12	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15586650C>G	ENST00000340880.4	-	2	1311	c.831G>C	c.(829-831)ctG>ctC	p.L277L	PGLYRP2_ENST00000292609.4_Silent_p.L277L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	277					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGACCCCATCCAGGGCGCCAT	0.617																																					p.L277L		.											.	PGLYRP2-93	0			c.G831C						.						36	39	38					19																	15586650		2203	4300	6503	SO:0001819	synonymous_variant	114770	exon2			CCCATCCAGGGCG	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.831G>C	19.37:g.15586650C>G		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	55	12	NM_052890	0	0	0	0	0	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																			.		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		G	15586650	C	G	15586650	2	3	31	1	0	0	0	0	0	0	0	1	11833	581	21	3		3	PGLYRP2	19	15586650	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	503111	15586650	43542333	2078	7630											
CYP4F3	4051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15752302	15752302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcctgctgctggttgGggcctcctggctcctggccc	14	16	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15752302G>A	ENST00000221307.8	+	2	124	c.77G>A	c.(76-78)gGg>gAg	p.G26E	CYP4F3_ENST00000591058.1_Missense_Mutation_p.G26E|CYP4F3_ENST00000586182.2_Missense_Mutation_p.G26E|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G26E	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	26					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						CTGCTGGTTGGGGCCTCCTGG	0.642																																					p.G26E		.											.	CYP4F3-93	0			c.G77A						.						53	55	55					19																	15752302		2203	4300	6503	SO:0001583	missense	4051	exon2			TGGTTGGGGCCTC	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.77G>A	19.37:g.15752302G>A	ENSP00000221307:p.Gly26Glu	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	121	69	NM_001199209	0	0	0	0	0	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.688223	0.29962	.	.	ENSG00000186529	ENST00000221307	D	0.98987	-5.3	3.57	-3.05	0.05396	.	1.114660	0.07242	U	0.864323	D	0.98535	0.9511	M	0.64997	1.995	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.69307	0.963;0.963	D	0.95829	0.8856	10	0.27785	T	0.31	.	6.7457	0.23460	0.0:0.4618:0.2618:0.2763	.	26;26	B7Z8Z3;Q08477	.;CP4F3_HUMAN	E	26	ENSP00000221307:G26E	ENSP00000221307:G26E	G	+	2	0	CYP4F3	15613302	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.328000	0.07945	-0.171000	0.10797	0.411000	0.27672	GGG	.		0.642	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15752302	G	A	15752302	3	1	31	1	0	0	0	0	1	0	0	0	4199	1232	43	3	79	3	CYP4F3	19	15752302	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	165652	15752302	43376681	2079	7631											
SIN3B	23309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16973222	16973222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggggtaaaagagctgtcctTcgcgccacccatgagcgaca	13	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:16973222T>A	ENST00000248054.5	+	9	1139	c.1118T>A	c.(1117-1119)tTc>tAc	p.F373Y	SIN3B_ENST00000595541.1_5'Flank|SIN3B_ENST00000379803.1_Missense_Mutation_p.F373Y					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGTCCTTCGCGCCACCC	0.522																																					p.F373Y		.											.	SIN3B-228	0			c.T1118A						.						76	77	77					19																	16973222		2203	4300	6503	SO:0001583	missense	23309	exon9			TGTCCTTCGCGCC	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1118T>A	19.37:g.16973222T>A	ENSP00000248054:p.Phe373Tyr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	58	29	NM_015260	0	0	0	0	0		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	T	0.398	-0.919906	0.02396	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.43688	0.94;0.96	4.63	3.59	0.41128	.	0.104028	0.64402	D	0.000002	T	0.28101	0.0693	L	0.38175	1.15	0.34862	D	0.742756	B;B	0.34103	0.115;0.437	B;B	0.31946	0.138;0.096	T	0.25847	-1.0120	10	0.08599	T	0.76	-14.3002	11.2035	0.48756	0.0:0.0:0.1544:0.8456	.	373;373	O75182-2;O75182	.;SIN3B_HUMAN	Y	373	ENSP00000369131:F373Y;ENSP00000248054:F373Y	ENSP00000248054:F373Y	F	+	2	0	SIN3B	16834222	1.000000	0.71417	0.254000	0.24359	0.221000	0.24807	6.108000	0.71522	0.602000	0.29896	0.459000	0.35465	TTC	.		0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		A	16973222	T	A	16973222	3	1	31	1	0	0	0	0	1	0	0	0	14371	1783	62	5	1152	5	SIN3B	19	16973222	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1220920	16973222	42155761	2080	7632											
MYO9B	4650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17303667	17303667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgctggagcgtcggcActtcctgcagatgaagcggg	17	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:17303667A>T	ENST00000594824.1	+	21	3071	c.2924A>T	c.(2923-2925)cAc>cTc	p.H975L	MYO9B_ENST00000397274.2_Missense_Mutation_p.H975L|MYO9B_ENST00000595618.1_Missense_Mutation_p.H975L			Q13459	MYO9B_HUMAN	myosin IXB	975	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGCGTCGGCACTTCCTGCAG	0.682																																					p.H975L		.											.	MYO9B-67	0			c.A2924T						.						20	28	25					19																	17303667		2010	4060	6070	SO:0001583	missense	4650	exon21			GTCGGCACTTCCT		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2924A>T	19.37:g.17303667A>T	ENSP00000471367:p.His975Leu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	154	93	NM_001130065	0	0	0	0	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	19.51	3.840561	0.71488	.	.	ENSG00000099331	ENST00000397274	T	0.70986	-0.53	5.07	1.84	0.25277	.	0.315814	0.27280	N	0.020081	T	0.65450	0.2692	L	0.28274	0.84	0.30301	N	0.789488	P;P;P	0.41188	0.741;0.741;0.737	P;P;P	0.51297	0.665;0.665;0.524	T	0.64202	-0.6463	10	0.56958	D	0.05	.	8.5198	0.33268	0.6833:0.0:0.3167:0.0	.	975;975;981	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	L	975	ENSP00000380444:H975L	ENSP00000380444:H975L	H	+	2	0	MYO9B	17164667	0.999000	0.42202	0.894000	0.35097	0.953000	0.61014	3.544000	0.53640	0.005000	0.14708	-0.296000	0.09543	CAC	.		0.682	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17303667	A	T	17303667	3	4	31	1	0	0	0	0	1	0	0	0	10123	159	6	5	3002	5	MYO9B	19	17303667	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	330445	17303667	41825316	2081	7633											
FAM129C	199786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17643172	17643172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgcgtggggacggccGcctagagtggttcagccaca	15	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:17643172G>T	ENST00000335393.4	+	4	518	c.380G>T	c.(379-381)cGc>cTc	p.R127L	FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.R127L|FAM129C_ENST00000599124.1_Missense_Mutation_p.R96L|FAM129C_ENST00000600871.1_Missense_Mutation_p.R73L|FAM129C_ENST00000332386.5_Missense_Mutation_p.R127L|FAM129C_ENST00000599164.1_Missense_Mutation_p.R96L|FAM129C_ENST00000352727.3_Missense_Mutation_p.R127L|FAM129C_ENST00000300971.2_Missense_Mutation_p.R127L|FAM129C_ENST00000601861.1_Missense_Mutation_p.R96L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	127										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGGGACGGCCGCCTAGAGTGG	0.647																																					p.R127L		.											.	FAM129C-90	0			c.G380T						.						90	89	89					19																	17643172		2203	4300	6503	SO:0001583	missense	199786	exon4			ACGGCCGCCTAGA	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.380G>T	19.37:g.17643172G>T	ENSP00000335040:p.Arg127Leu	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	172	105	NM_001098524	0	0	0	0	0	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251611	0.59212	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	3.89	0.11	0.14611	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.575782	0.14299	U	0.328428	T	0.23249	0.0562	M	0.68317	2.08	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.58660	0.843;0.796	T	0.47674	-0.9099	10	0.09084	T	0.74	-16.5376	3.6644	0.08250	0.2551:0.2299:0.5149:0.0	.	127;127	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	127;127;127;127;73	ENSP00000335040:R127L;ENSP00000333447:R127L;ENSP00000341067:R127L;ENSP00000300971:R127L	ENSP00000300971:R127L	R	+	2	0	FAM129C	17504172	0.001000	0.12720	0.999000	0.59377	0.955000	0.61496	0.436000	0.21526	0.304000	0.22809	0.491000	0.48974	CGC	.		0.647	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		T	17643172	G	T	17643172	3	4	31	1	0	0	0	0	1	0	0	0	5457	1087	38	2	394	2	FAM129C	19	17643172	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	339505	17643172	41485811	2082	7634											
ZNF90	7643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	20228898	20228898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaatgtatagaatgtGgcaaagctttcaaccagtcc	7	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:20228898G>T	ENST00000418063.2	+	4	647	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	179					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)|lung(2)|ovary(1)|skin(1)	5						TATAGAATGTGGCAAAGCTTT	0.348																																					p.G179C		.											.	ZNF90-48	0			c.G535T						.						32	29	30					19																	20228898		692	1591	2283	SO:0001583	missense	7643	exon4			GAATGTGGCAAAG	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.535G>T	19.37:g.20228898G>T	ENSP00000410466:p.Gly179Cys	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	54	21	NM_007138	0	0	0	0	0	B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010623	0.35511	.	.	ENSG00000213988	ENST00000418063	T	0.22336	1.96	1.18	-0.282	0.12878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.83384	2.64	0.24851	N	0.992403	D	0.89917	1.0	D	0.74674	0.984	T	0.16217	-1.0410	8	.	.	.	.	5.3669	0.16119	0.2437:0.0:0.7563:0.0	.	179	Q03938	ZNF90_HUMAN	C	179	ENSP00000410466:G179C	.	G	+	1	0	ZNF90	20089898	1.000000	0.71417	0.082000	0.20525	0.082000	0.17680	2.058000	0.41374	0.293000	0.22520	0.298000	0.19748	GGC	.		0.348	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		T	20228898	G	T	20228898	3	4	31	1	0	0	0	0	1	0	0	0	18247	1348	47	3	549	3	ZNF90	19	20228898	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2585726	20228898	38900085	2083	7635											
ZNF675	171392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	23844980	23844980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcttgctccagacaGgtgatcaggtcttgcttaga	9	9	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:23844980G>A	ENST00000359788.4	-	3	330	c.162C>T	c.(160-162)acC>acT	p.T54T	ZNF675_ENST00000601935.1_Silent_p.T54T|ZNF675_ENST00000601010.1_Silent_p.T54T|ZNF675_ENST00000596211.1_Silent_p.T54T|ZNF675_ENST00000600313.1_Silent_p.T54T|ZNF675_ENST00000599168.1_Silent_p.T54T	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GCTCCAGACAGGTGATCAGGT	0.378																																					p.T54T		.											.	ZNF675-228	0			c.C162T						.						116	116	116					19																	23844980		2203	4300	6503	SO:0001819	synonymous_variant	171392	exon3			CAGACAGGTGATC		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.162C>T	19.37:g.23844980G>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	36	17	NM_138330	0	0	0	0	0	Q8N211	Silent	SNP	ENST00000359788.4	37	CCDS32981.1																																																																																			.		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		A	23844980	G	A	23844980	2	1	31	1	0	0	0	0	0	0	0	1	18130	987	35	3		3	ZNF675	19	23844980	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3616082	23844980	35284003	2084	7636											
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	31767667	31767667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgactgttaatctgttcgGtggacagtttggataagtcc	11	7	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31767667G>C	ENST00000240587.4	-	2	3359	c.3032C>G	c.(3031-3033)aCc>aGc	p.T1011S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1011					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AATCTGTTCGGTGGACAGTTT	0.498																																					p.T1011S		.											.	TSHZ3-232	0			c.C3032G						.						147	126	133					19																	31767667		2203	4300	6503	SO:0001583	missense	57616	exon2			TGTTCGGTGGACA	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3032C>G	19.37:g.31767667G>C	ENSP00000240587:p.Thr1011Ser	Somatic	316	0		WXS	Illumina GAIIx	Phase_I	198	112	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	0.483	-0.878935	0.02550	.	.	ENSG00000121297	ENST00000240587	T	0.10860	2.83	5.84	2.32	0.28847	.	0.339448	0.33553	N	0.004790	T	0.05686	0.0149	N	0.14661	0.345	0.28372	N	0.919942	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.13853	T	0.58	-22.3053	10.5154	0.44887	0.0:0.5237:0.314:0.1623	.	1011	Q63HK5	TSH3_HUMAN	S	1011	ENSP00000240587:T1011S	ENSP00000240587:T1011S	T	-	2	0	TSHZ3	36459507	0.960000	0.32886	0.929000	0.37066	0.999000	0.98932	1.789000	0.38724	0.757000	0.33036	0.591000	0.81541	ACC	.		0.498	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31767667	G	C	31767667	3	2	31	1	0	0	0	0	1	0	0	0	16673	1261	44	3	217	3	TSHZ3	19	31767667	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7922687	31767667	27361316	2085	7637											
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	31768123	31768123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtggaggattttgacGtgtggctctctgtcaagttc	14	6	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31768123G>T	ENST00000240587.4	-	2	2903	c.2576C>A	c.(2575-2577)aCg>aAg	p.T859K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	859					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGATTTTGACGTGTGGCTCTC	0.532																																					p.T859K		.											.	TSHZ3-232	0			c.C2576A						.						132	125	128					19																	31768123		2203	4300	6503	SO:0001583	missense	57616	exon2			TTTGACGTGTGGC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2576C>A	19.37:g.31768123G>T	ENSP00000240587:p.Thr859Lys	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	106	61	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407144	0.42715	.	.	ENSG00000121297	ENST00000240587	T	0.16597	2.33	5.18	5.18	0.71444	.	0.345513	0.32884	N	0.005526	T	0.17323	0.0416	L	0.39245	1.2	0.46437	D	0.999042	P	0.43024	0.798	B	0.37144	0.242	T	0.02161	-1.1203	10	0.62326	D	0.03	-23.0945	18.7068	0.91641	0.0:0.0:1.0:0.0	.	859	Q63HK5	TSH3_HUMAN	K	859	ENSP00000240587:T859K	ENSP00000240587:T859K	T	-	2	0	TSHZ3	36459963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.025000	0.64097	2.399000	0.81585	0.655000	0.94253	ACG	.		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31768123	G	T	31768123	3	4	31	1	0	0	0	0	1	0	0	0	16673	1145	40	2	673	2	TSHZ3	19	31768123	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	456	31768123	27360860	2086	7638											
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	31769009	31769010	+	Missense_Mutation	DNP	GG	GG	CT													gctcttccccgacgagcccaGggacaacttcatcatgttgg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31769009_31769010GG>CT	ENST00000240587.4	-	2	2016_2017	c.1689_1690CC>AG	c.(1687-1692)tcCCtg>tcAGtg	p.L564V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	564					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GACGAGCCCAGGGACAACTTCA	0.579																																					p.L564V		.											.	TSHZ3-232	0			c.C1689A						.																																			SO:0001583	missense	57616	exon2			GCCCAGGGACAAC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1689_1690delinsCT	19.37:g.31769009_31769010delinsCT	ENSP00000240587:p.Leu564Val	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	156	0	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	DNP	ENST00000240587.4	37	CCDS12421.2																																																																																			.		0.579	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		CT	31769010	GG	CT	31769009	3	2	31	1	0	0	0	0	1	0	0	0	16673	991	35	3	1559	3	TSHZ3	19	31769009	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	886	31769009	27359974	2087	7639											
ZNF599	148103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35260460	35260460	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaaatgatactaatgCctgggaagtcaaacagaggt	10	7	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:35260460C>A	ENST00000329285.8	-	2	392	c.19G>T	c.(19-21)Gca>Tca	p.A7S	ZNF599_ENST00000587354.2_Splice_Site_p.A7S|ZNF599_ENST00000588760.1_Splice_Site_p.A7S	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GATACTAATGCCTGGGAAGTC	0.527																																					p.A7S		.											.	ZNF599-92	0			c.G19T						.						82	80	80					19																	35260460		2203	4300	6503	SO:0001630	splice_region_variant	148103	exon2			CTAATGCCTGGGA	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.19-1G>T	19.37:g.35260460C>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	58	36	NM_001007248	0	0	0	0	0	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521408	0.44866	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.00792	5.69	3.23	1.08	0.20341	Krueppel-associated box (1);	.	.	.	.	T	0.00524	0.0017	N	0.12611	0.24	0.80722	D	1	B	0.25667	0.131	B	0.24541	0.054	T	0.60642	-0.7223	9	0.15066	T	0.55	.	7.2436	0.26109	0.0:0.7654:0.0:0.2346	.	7	Q96NL3	ZN599_HUMAN	S	6;7;1	ENSP00000333802:A7S	ENSP00000333802:A7S	A	-	1	0	ZNF599	39952300	0.014000	0.17966	0.191000	0.23289	0.836000	0.47400	-0.057000	0.11768	0.393000	0.25203	0.457000	0.33378	GCA	.		0.527	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	Missense_Mutation	A	35260460	C	A	35260460	5	1	31	1	0	0	0	0	0	0	1	0	18077	753	26	3	1759	3	ZNF599	19	35260460	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3491451	35260460	23868523	2088	7640											
MAG	4099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35786525	35786525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgcagcctcccgagGgggtcactggggtgcctgga	16	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:35786525G>T	ENST00000392213.3	+	4	215	c.56G>T	c.(55-57)gGg>gTg	p.G19V	MAG_ENST00000361922.4_Missense_Mutation_p.G19V|MAG_ENST00000597035.1_Missense_Mutation_p.G19V|MAG_ENST00000537831.2_5'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	19					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCTCCCGAGGGGGTCACTGG	0.687																																					p.G19V		.											.	MAG-947	0			c.G56T						.						51	51	51					19																	35786525		2203	4300	6503	SO:0001583	missense	4099	exon4			CCCGAGGGGGTCA	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.56G>T	19.37:g.35786525G>T	ENSP00000376048:p.Gly19Val	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	57	30	NM_080600	0	0	0	0	0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.476148	0.63737	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213	T;T	0.64438	0.03;-0.1	5.38	5.38	0.77491	.	0.208128	0.48767	D	0.000180	T	0.57562	0.2062	L	0.46157	1.445	0.80722	D	1	P;P;P	0.47409	0.895;0.895;0.675	B;B;B	0.40602	0.334;0.334;0.187	T	0.62378	-0.6867	10	0.51188	T	0.08	.	17.0011	0.86381	0.0:0.0:1.0:0.0	.	56;19;19	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	V	56;19;19	ENSP00000355234:G19V;ENSP00000376048:G19V	ENSP00000262624:G56V	G	+	2	0	MAG	40478365	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	4.265000	0.58865	2.692000	0.91855	0.450000	0.29827	GGG	.		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35786525	G	T	35786525	3	4	31	1	0	0	0	0	1	0	0	0	9198	1232	43	3	62	3	MAG	19	35786525	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	526065	35786525	23342458	2089	7641											
ZFP82	284406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36884174	36884174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagtatgaattctctgAtggagtgttagttgttgtcg	11	6	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:36884174A>G	ENST00000392161.3	-	5	1310	c.1068T>C	c.(1066-1068)caT>caC	p.H356H	ZFP82_ENST00000392171.1_Silent_p.H356H	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAATTCTCTGATGGAGTGTTA	0.413																																					p.H356H		.											.	ZFP82-91	0			c.T1068C						.						93	94	94					19																	36884174		2203	4300	6503	SO:0001819	synonymous_variant	284406	exon5			TCTCTGATGGAGT	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1068T>C	19.37:g.36884174A>G		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	48	30	NM_133466	0	0	0	0	0	Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	CCDS12493.1																																																																																			.		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		G	36884174	A	G	36884174	2	3	31	1	0	0	0	0	0	0	0	1	17701	330	12	4		4	ZFP82	19	36884174	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1097649	36884174	22244809	2090	7642											
ZNF382	84911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	37100830	37100830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctagagtatgcccttacaggGatcagtgtcattcaaggatg	11	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:37100830G>T	ENST00000292928.2	+	3	127	c.14G>T	c.(13-15)gGa>gTa	p.G5V	ZNF382_ENST00000435416.1_Missense_Mutation_p.G5V|ZNF382_ENST00000423582.1_Intron|ZNF382_ENST00000439428.1_Splice_Site_p.G4V	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	5	Mediates interaction with TRIM28. {ECO:0000250}.|Represses transcription. {ECO:0000250}.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCTTACAGGGATCAGTGTCA	0.468																																					p.G5V		.											.	ZNF382-90	0			c.G14T						.						131	117	122					19																	37100830		2203	4300	6503	SO:0001583	missense	84911	exon3			TACAGGGATCAGT	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.14G>T	19.37:g.37100830G>T	ENSP00000292928:p.Gly5Val	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	157	85	NM_032825	0	0	0	0	0	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235699	0.79800	.	.	ENSG00000161298	ENST00000292928;ENST00000439428;ENST00000435416	T;T;T	0.00873	5.59;5.59;5.59	4.95	4.95	0.65309	Krueppel-associated box (1);	0.000000	0.41823	D	0.000813	T	0.04907	0.0132	M	0.74389	2.26	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.37407	-0.9707	10	0.41790	T	0.15	.	13.8773	0.63660	0.0:0.0:1.0:0.0	.	4;5;5	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	V	5;4;5	ENSP00000292928:G5V;ENSP00000407593:G4V;ENSP00000410113:G5V	ENSP00000292928:G5V	G	+	2	0	ZNF382	41792670	0.809000	0.29036	0.994000	0.49952	0.995000	0.86356	0.808000	0.27154	2.728000	0.93425	0.563000	0.77884	GGA	.		0.468	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		T	37100830	G	T	37100830	3	4	31	1	0	0	0	0	1	0	0	0	17921	1174	41	3	16	3	ZNF382	19	37100830	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	216656	37100830	22028153	2091	7643											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	38572624	38572624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtccaaagccttccaccGactctccaggagaaggtcca	10	14	1	1	rs376921669		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38572624G>A	ENST00000222345.6	+	3	928	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	140					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)			GCCTTCCACCGACTCTCCAGG	0.657																																					p.R140Q		.											.	SIPA1L3-91	0			c.G419A						.						95	111	105					19																	38572624		2203	4300	6503	SO:0001583	missense	23094	exon3			TCCACCGACTCTC	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.419G>A	19.37:g.38572624G>A	ENSP00000222345:p.Arg140Gln	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	84	23	NM_015073	0	0	0	0	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348773	0.61183	.	.	ENSG00000105738	ENST00000222345	T	0.76186	-1.0	5.07	5.07	0.68467	.	0.074232	0.50627	D	0.000104	T	0.74238	0.3690	N	0.14661	0.345	0.42229	D	0.991889	D	0.89917	1.0	D	0.66497	0.944	T	0.73836	-0.3857	10	0.26408	T	0.33	-6.0895	17.2042	0.86914	0.0:0.0:1.0:0.0	.	140	O60292	SI1L3_HUMAN	Q	140	ENSP00000222345:R140Q	ENSP00000222345:R140Q	R	+	2	0	SIPA1L3	43264464	0.558000	0.26554	1.000000	0.80357	0.971000	0.66376	3.683000	0.54663	2.356000	0.79943	0.563000	0.77884	CGA	.		0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38572624	G	A	38572624	3	1	31	1	0	0	0	0	1	0	0	0	14376	1058	37	1	421	1	SIPA1L3	19	38572624	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1471794	38572624	20556359	2092	7644											
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38572784	38572784	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggggggcccggcacacGggggcgctgcccctcttccg	17	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38572784G>T	ENST00000222345.6	+	3	1088	c.579G>T	c.(577-579)acG>acT	p.T193T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	193					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)			CCCGGCACACGGGGGCGCTGC	0.701																																					p.T193T		.											.	SIPA1L3-91	0			c.G579T						.						18	20	19					19																	38572784		2152	4222	6374	SO:0001819	synonymous_variant	23094	exon3			GCACACGGGGGCG	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.579G>T	19.37:g.38572784G>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	37	24	NM_015073	0	0	0	0	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.701	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38572784	G	T	38572784	2	4	31	1	0	0	0	0	0	0	0	1	14376	1103	39	2		2	SIPA1L3	19	38572784	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	160	38572784	20556199	2093	7645											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38954426	38954426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctgcacccgtgtcttgtgGacttccacagccttccagag	11	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38954426G>T	ENST00000359596.3	+	22	2722	c.2722G>T	c.(2722-2724)Gac>Tac	p.D908Y	RYR1_ENST00000355481.4_Missense_Mutation_p.D908Y|RYR1_ENST00000360985.3_Missense_Mutation_p.D908Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	908	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)	GTGTCTTGTGGACTTCCACAG	0.607																																					p.D908Y		.											.	RYR1-100	0			c.G2722T						.						99	91	93					19																	38954426		2203	4300	6503	SO:0001583	missense	6261	exon22			CTTGTGGACTTCC	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.2722G>T	19.37:g.38954426G>T	ENSP00000352608:p.Asp908Tyr	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	88	52	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.71	2.616257	0.46631	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91521	-2.86;-2.86;-2.86	4.0	-2.94	0.05581	Ryanodine receptor Ryr (1);	0.072154	0.51477	U	0.000092	D	0.92116	0.7501	M	0.62723	1.935	0.35702	D	0.815728	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.979	D	0.90553	0.4510	10	0.72032	D	0.01	.	9.4418	0.38673	0.4098:0.0:0.5902:0.0	.	908;908	P21817-2;P21817	.;RYR1_HUMAN	Y	908	ENSP00000352608:D908Y;ENSP00000347667:D908Y;ENSP00000354254:D908Y	ENSP00000347667:D908Y	D	+	1	0	RYR1	43646266	1.000000	0.71417	0.601000	0.28877	0.987000	0.75469	1.825000	0.39081	-0.654000	0.05394	0.444000	0.29173	GAC	.		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38954426	G	T	38954426	3	4	31	1	0	0	0	0	1	0	0	0	13813	1174	41	3	2808	3	RYR1	19	38954426	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	381642	38954426	20174557	2094	7646											
MAP4K1	11184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39103252	39103252	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccacgcctgcctaccTgagagggtgcacatcaaaga	11	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39103252T>G	ENST00000591517.1	-	9	692	c.664A>C	c.(664-666)Aga>Cga	p.R222R	MAP4K1_ENST00000586296.1_Splice_Site_p.R222R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Splice_Site_p.R218R|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Splice_Site_p.R222R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGCCTACCTGAGAGGGTGC	0.607																																					p.R222R		.											.	MAP4K1-980	0			c.A664C						.						37	41	40					19																	39103252		2091	4232	6323	SO:0001630	splice_region_variant	11184	exon9			CCTACCTGAGAGG	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.665+1A>C	19.37:g.39103252T>G		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	38	24	NM_007181	0	0	0	0	0		Silent	SNP	ENST00000591517.1	37	CCDS59385.1																																																																																			.		0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	Silent	G	39103252	T	G	39103252	5	3	31	1	0	0	0	0	0	0	1	0	9297	1594	55	5	1995	5	MAP4K1	19	39103252	Splice_Site	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	148826	39103252	20025731	2095	7647											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000340740.3_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	14	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	31	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	257468	39360720	19768263	2096	7648											
PAPL	390928	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	39589631	39589631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgcgcagggctggagCcgtcggttccgcttcagggc	18	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39589631C>A	ENST00000331256.5	+	4	628	c.354C>A	c.(352-354)agC>agA	p.S118R	PAPL_ENST00000594229.1_Missense_Mutation_p.S118R	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		118						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGGGCTGGAGCCGTCGGTTCC	0.657																																					p.S118R		.											.	.	0			c.C354A						.						42	46	45					19																	39589631		2203	4300	6503	SO:0001583	missense	0	exon4			CTGGAGCCGTCGG																												ENST00000331256.5:c.354C>A	19.37:g.39589631C>A	ENSP00000327557:p.Ser118Arg	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	28	16	NM_001004318	0	0	0	0	0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782252	0.70222	.	.	ENSG00000183760	ENST00000331256	D	0.86366	-2.11	5.01	2.89	0.33648	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	H	0.94964	3.605	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.92277	0.5830	10	0.59425	D	0.04	-39.4733	6.0517	0.19789	0.0:0.7005:0.0:0.2995	.	118	Q6ZNF0	PAPL_HUMAN	R	118	ENSP00000327557:S118R	ENSP00000327557:S118R	S	+	3	2	AC011443.1	44281471	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.587000	0.23909	1.089000	0.41292	0.563000	0.77884	AGC	.		0.657	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			A	39589631	C	A	39589631	3	1	31	1	0	0	0	0	1	0	0	0	11466	738	26	3	364	3	PAPL	19	39589631	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	228911	39589631	19539352	2097	7649											
SUPT5H	6829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	39959793	39959793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagggcattgacctggaGgtggtgactgagagcacagg	17	8	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39959793G>T	ENST00000599117.1	+	16	1585	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E402D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E406D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E406D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E402D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	406	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGACCTGGAGGTGGTGACTG	0.597																																					p.E406D		.											.	SUPT5H-94	0			c.G1218T						.						70	75	73					19																	39959793		2203	4300	6503	SO:0001583	missense	6829	exon14			CCTGGAGGTGGTG	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1218G>T	19.37:g.39959793G>T	ENSP00000470252:p.Glu406Asp	Somatic	223	1		WXS	Illumina GAIIx	Phase_I	146	89	NM_003169	0	0	0	0	0	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675765	0.47781	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.51	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.10618	0.005	0.80722	D	1	B;B;B	0.23735	0.09;0.047;0.058	B;B;B	0.29862	0.063;0.108;0.05	T	0.09487	-1.0672	8	.	.	.	-27.1315	9.696	0.40158	0.1612:0.0:0.8388:0.0	.	198;402;406	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	D	406;402;384;406	.	.	E	+	3	2	SUPT5H	44651633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.898000	0.39809	1.346000	0.45694	0.650000	0.86243	GAG	.		0.597	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		T	39959793	G	T	39959793	3	4	31	1	0	0	0	0	1	0	0	0	15446	991	35	3	1272	3	SUPT5H	19	39959793	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	370162	39959793	19169190	2098	7650											
SERTAD1	29950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	40929113	40929113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccaggaggctggccatgGaggctgaaagggcagcgtcc	16	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:40929113G>A	ENST00000357949.4	-	2	499	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	114					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)			GCTGGCCATGGAGGCTGAAAG	0.667																																					p.S114F		.											.	SERTAD1-226	0			c.C341T						.						16	16	16					19																	40929113		2202	4299	6501	SO:0001583	missense	29950	exon2			GCCATGGAGGCTG	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.341C>T	19.37:g.40929113G>A	ENSP00000350633:p.Ser114Phe	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	138	16	NM_013376	0	0	0	0	0	Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552752	0.65425	.	.	ENSG00000197019	ENST00000357949	T	0.51574	0.7	5.15	5.15	0.70609	.	0.132739	0.50627	D	0.000104	T	0.40570	0.1122	L	0.46157	1.445	0.39129	D	0.961827	B	0.28636	0.218	B	0.24269	0.052	T	0.45323	-0.9269	10	0.66056	D	0.02	1.2215	11.6562	0.51320	0.0867:0.0:0.9133:0.0	.	114	Q9UHV2	SRTD1_HUMAN	F	114	ENSP00000350633:S114F	ENSP00000350633:S114F	S	-	2	0	SERTAD1	45620953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.422000	0.52749	2.404000	0.81709	0.561000	0.74099	TCC	.		0.667	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		A	40929113	G	A	40929113	3	1	31	1	0	0	0	0	1	0	0	0	14165	1174	41	3	373	3	SERTAD1	19	40929113	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	969320	40929113	18199870	2099	7651											
NUMBL	9253	ucsc.edu	37	chr19	41173871	41173871	+	Silent	SNP	C	C	T													gccactgaggctgcttgctgCtgttgctgctgctgctgctg					rs62637692		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173871C>T	ENST00000252891.4	-	10	1499	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	NUMBL_ENST00000598779.1_Silent_p.Q403Q|NUMBL_ENST00000540131.1_Silent_p.Q403Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	444	Poly-Gln.				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)			ctgcttgctgctgttgctgct	0.667																																					p.Q444Q		.											.	NUMBL-637	0			c.G1332A						.						10	9	9					19																	41173871		2159	4226	6385	SO:0001819	synonymous_variant	9253	exon10			TTGCTGCTGTTGC	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.1332G>A	19.37:g.41173871C>T		Somatic	47	7		WXS	Illumina GAIIx	Phase_I	57	20	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			C|0.982;T|0.018		0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41173871	C	T	41173871	2	4	31	1	0	0	0	0	0	0	0	1	10791	796	28	3		3	NUMBL	19	41173871	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	244758	41173871	17955112	2100	7652	63	3									
NUMBL	9253	ucsc.edu	37	chr19	41173874	41173874	+	Silent	SNP	T	T	C													actgaggctgcttgctgctgTtgctgctgctgctgctgctg					rs62637691		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173874T>C	ENST00000252891.4	-	10	1496	c.1329A>G	c.(1327-1329)caA>caG	p.Q443Q	NUMBL_ENST00000598779.1_Silent_p.Q402Q|NUMBL_ENST00000540131.1_Silent_p.Q402Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	443	Poly-Gln.				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)			cttgctgctgttgctgctgct	0.662																																					p.Q443Q		.											.	NUMBL-637	0			c.A1329G						.						10	9	9					19																	41173874		2153	4210	6363	SO:0001819	synonymous_variant	9253	exon10			CTGCTGTTGCTGC	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.1329A>G	19.37:g.41173874T>C		Somatic	48	7		WXS	Illumina GAIIx	Phase_I	56	22	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			T|0.981;C|0.019		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		C	41173874	T	C	41173874	2	2	31	1	0	0	0	0	0	0	0	1	10791	1722	60	4		4	NUMBL	19	41173874	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	3	41173874	17955109	2101	7653	63	3									
NUMBL	9253	hgsc.bcm.edu	37	chr19	41173883	41173883	+	Silent	SNP	C	C	T													gcttgctgctgttgctgctgCtgctgctgctgctgttgctg					rs59475675		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173883C>T	ENST00000252891.4	-	10	1487	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	NUMBL_ENST00000598779.1_Silent_p.Q399Q|NUMBL_ENST00000540131.1_Silent_p.Q399Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	440	Poly-Gln.				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)			gttgctgctgctgctgctgct	0.662																																					p.Q440Q		.											.	NUMBL-637	0			c.G1320A						.						9	9	9					19																	41173883		2122	4145	6267	SO:0001819	synonymous_variant	9253	exon10			CTGCTGCTGCTGC	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.1320G>A	19.37:g.41173883C>T		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			.		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41173883	C	T	41173883	2	4	31	1	0	0	0	0	0	0	0	1	10791	796	28	3		3	NUMBL	19	41173883	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9	41173883	17955100	2102	7654	63	3									
PSG9	5678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43766262	43766262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctggggtttaagttgctGctggagatgtagggcttggg	17	6	0	1	rs577188236		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:43766262G>T	ENST00000270077.3	-	3	555	c.459C>A	c.(457-459)agC>agA	p.S153R	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.S153R|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.S153R|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	153	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTAAGTTGCTGCTGGAGATGT	0.517																																					p.S153R		.											.	PSG9-92	0			c.C459A						.						170	170	170					19																	43766262		2203	4300	6503	SO:0001583	missense	5678	exon3			GTTGCTGCTGGAG	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.459C>A	19.37:g.43766262G>T	ENSP00000270077:p.Ser153Arg	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	73	30	NM_002784	0	0	0	0	0	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	12.74	2.029252	0.35797	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.13196	2.61;2.61	2.12	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33118	0.0852	M	0.75884	2.315	0.21740	N	0.999567	P;D;D	0.76494	0.834;0.999;0.997	D;D;D	0.77557	0.928;0.99;0.952	T	0.04029	-1.0983	9	0.87932	D	0	.	7.8962	0.29708	0.0:0.0:1.0:0.0	.	153;153;153	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	R	153;114;153	ENSP00000270077:S153R;ENSP00000244293:S153R	ENSP00000244293:S153R	S	-	3	2	PSG9	48458102	0.889000	0.30405	0.068000	0.19968	0.171000	0.22731	2.403000	0.44530	0.860000	0.35481	0.194000	0.17425	AGC	.		0.517	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		T	43766262	G	T	43766262	3	4	31	1	0	0	0	0	1	0	0	0	12704	1310	46	3	837	3	PSG9	19	43766262	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2592379	43766262	15362721	2103	7655											
PHLDB3	653583	hgsc.bcm.edu	37	chr19	44005886	44005886	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggtgagccaaacagacCtgttcccgctgctggcggcc	12	16	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:44005886C>T	ENST00000292140.5	-	4	894	c.534G>A	c.(532-534)caG>caA	p.Q178Q	PHLDB3_ENST00000599242.1_Splice_Site_p.Q178Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	178							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCAAACAGACCTGTTCCCGCT	0.687																																					p.Q178Q		.											.	PHLDB3-68	0			c.G534A						.						23	25	25					19																	44005886		2192	4286	6478	SO:0001630	splice_region_variant	653583	exon4			ACAGACCTGTTCC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.534+1G>A	19.37:g.44005886C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_198850	0	0	0	0	0	Q8N7Z4	Silent	SNP	ENST00000292140.5	37	CCDS12621.2																																																																																			.		0.687	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2		Silent	T	44005886	C	T	44005886	5	4	31	1	0	0	0	0	0	0	1	0	11892	695	24	3	1440	3	PHLDB3	19	44005886	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	239624	44005886	15123097	2104	7656											
MARK4	57787	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	45801154	45801154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcacccctgcccgccGggcggccccgccccaccacc	11	24	0	0	rs376422468		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:45801154G>T	ENST00000262891.4	+	15	2150	c.1819G>T	c.(1819-1821)Ggg>Tgg	p.G607W	MARK4_ENST00000300843.4_Missense_Mutation_p.G607W	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	607					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)		CCTgcccgccgggcggccccg	0.746																																					p.G607W		.											.	MARK4-782	0			c.G1819T						.						3	3	3					19																	45801154		1695	3327	5022	SO:0001583	missense	57787	exon15			CCCGCCGGGCGGC	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.1819G>T	19.37:g.45801154G>T	ENSP00000262891:p.Gly607Trp	Somatic	27	2		WXS	Illumina GAIIx	Phase_I	76	49	NM_001199867	0	0	0	0	0	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443262	0.25987	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.71934	-0.61;-0.59	3.72	3.72	0.42706	.	0.318634	0.25104	N	0.033109	T	0.74183	0.3683	L	0.49778	1.585	0.30067	N	0.81039	P;D	0.55605	0.947;0.972	P;P	0.60682	0.657;0.878	T	0.71364	-0.4615	10	0.87932	D	0	.	7.0389	0.25008	0.1241:0.0:0.8759:0.0	.	607;607	Q96L34;Q96L34-2	MARK4_HUMAN;.	W	607	ENSP00000262891:G607W;ENSP00000300843:G607W	ENSP00000262891:G607W	G	+	1	0	MARK4	50492994	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.118000	0.50414	1.921000	0.55644	0.298000	0.19748	GGG	.		0.746	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		T	45801154	G	T	45801154	3	4	31	1	0	0	0	0	1	0	0	0	9353	1116	39	2	1877	2	MARK4	19	45801154	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1795268	45801154	13327829	2105	7657											
GPR4	2828	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	46094390	46094390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagatggcgctgcgggaCagcaagagcacgtgataggg	18	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:46094390C>T	ENST00000323040.4	-	2	1679	c.735G>A	c.(733-735)ctG>ctA	p.L245L	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	245					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCTGCGGGACAGCAAGAGCA	0.627																																					p.L245L	Esophageal Squamous(117;181 1612 1673 14956 42937)	.											.	GPR4-92	0			c.G735A						.						43	47	46					19																	46094390		2203	4300	6503	SO:0001819	synonymous_variant	2828	exon2			GCGGGACAGCAAG	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.735G>A	19.37:g.46094390C>T		Somatic	65	1		WXS	Illumina GAIIx	Phase_I	74	41	NM_005282	0	0	0	0	0	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																			.		0.627	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094390	C	T	46094390	2	4	31	1	0	0	0	0	0	0	0	1	6720	465	17	3		3	GPR4	19	46094390	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	293236	46094390	13034593	2106	7658											
DACT3	147906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47156013	47156013	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaagccactgtccccacAgaaggttgagggtggtgaat	14	8	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47156013A>T	ENST00000391916.2	-	3	476	c.403T>A	c.(403-405)Tgt>Agt	p.C135S	DACT3_ENST00000300875.4_5'UTR|DACT3_ENST00000410105.2_Missense_Mutation_p.C135S	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	135					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGTCCCCACAGAAGGTTGAG	0.562																																					p.C135S		.											.	.	0			c.T403A						.						58	66	63					19																	47156013		692	1591	2283	SO:0001583	missense	147906	exon3			CCCCACAGAAGGT		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"arginine rich region 1", "dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.403T>A	19.37:g.47156013A>T	ENSP00000375783:p.Cys135Ser	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	39	23	NM_145056	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391916.2	37	CCDS12688.2	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710423	0.68730	.	.	ENSG00000197380	ENST00000391916;ENST00000410105	T	0.65364	-0.15	4.81	3.76	0.43208	.	0.422761	0.15121	U	0.279379	T	0.27663	0.0680	N	0.00991	-1.07	0.29867	N	0.827197	P;B	0.41450	0.75;0.072	B;B	0.38755	0.281;0.08	T	0.07177	-1.0786	10	0.16420	T	0.52	-16.5936	7.6991	0.28613	0.7099:0.2901:0.0:0.0	.	135;135	Q96B18;G5E9H6	DACT3_HUMAN;.	S	135	ENSP00000375783:C135S	ENSP00000375783:C135S	C	-	1	0	DACT3	51847853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.251000	0.32862	1.812000	0.52913	0.402000	0.26972	TGT	.		0.562	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056		T	47156013	A	T	47156013	3	4	31	1	0	0	0	0	1	0	0	0	4232	188	7	5	1494	5	DACT3	19	47156013	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1061623	47156013	11972970	2107	7659											
MEIS3	56917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47920493	47920493	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagcctgggggcagggGctggggaggccggtgcgggc	23	10	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47920493G>C	ENST00000558555.1	-	2	314	c.127C>G	c.(127-129)Ccc>Gcc	p.P43A	MEIS3_ENST00000561096.1_Missense_Mutation_p.P131A|MEIS3_ENST00000441740.2_Missense_Mutation_p.P43A|MEIS3_ENST00000559524.1_Missense_Mutation_p.P43A|MEIS3_ENST00000561293.1_Missense_Mutation_p.P43A|MEIS3_ENST00000331559.5_Missense_Mutation_p.P43A			Q99687	MEIS3_HUMAN	Meis homeobox 3	43					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGGGGCAGGGGCTGGGGAGGC	0.667																																					p.P43A		.											.	MEIS3-90	0			c.C127G						.						39	49	45					19																	47920493		2201	4300	6501	SO:0001583	missense	56917	exon2			GCAGGGGCTGGGG	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.127C>G	19.37:g.47920493G>C	ENSP00000454073:p.Pro43Ala	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	112	64	NM_001009813	0	0	0	0	0	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	G	0.740	-0.776827	0.02929	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.34072	1.38;1.38	3.18	3.18	0.36537	.	0.382752	0.19097	N	0.122807	T	0.21227	0.0511	L	0.39397	1.21	0.22096	N	0.999361	B;B;P	0.37663	0.004;0.002;0.604	B;B;B	0.36134	0.012;0.003;0.218	T	0.18023	-1.0350	10	0.05436	T	0.98	-15.0052	6.3841	0.21552	0.1331:0.0:0.8669:0.0	.	43;43;43	Q99687;Q99687-3;Q99687-2	MEIS3_HUMAN;.;.	A	43	ENSP00000333552:P43A;ENSP00000388667:P43A	ENSP00000333552:P43A	P	-	1	0	MEIS3	52612305	0.306000	0.24490	0.932000	0.37286	0.104000	0.19210	2.422000	0.44696	2.097000	0.63578	0.491000	0.48974	CCC	.		0.667	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		C	47920493	G	C	47920493	3	2	31	1	0	0	0	0	1	0	0	0	9507	1203	42	3	1182	3	MEIS3	19	47920493	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	764480	47920493	11208490	2108	7660											
SLC8A2	6543	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	47951225	47951225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtgcccatgcactcgCtcacgtgcagcaggcggtcc	12	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47951225C>T	ENST00000236877.6	-	4	1999	c.1604G>A	c.(1603-1605)aGc>aAc	p.S535N	SLC8A2_ENST00000539381.1_5'UTR|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Missense_Mutation_p.S291N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	535	Calx-beta 2.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CATGCACTCGCTCACGTGCAG	0.736																																					p.S535N		.											.	SLC8A2-94	0			c.G1604A						.						16	13	14					19																	47951225		2124	4126	6250	SO:0001583	missense	6543	exon4			CACTCGCTCACGT	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1604G>A	19.37:g.47951225C>T	ENSP00000236877:p.Ser535Asn	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	63	35	NM_015063	0	0	0	0	0	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985404	0.53934	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.30714	1.52;1.52	4.15	3.1	0.35709	Na-Ca exchanger/integrin-beta4 (2);	0.156096	0.53938	D	0.000042	T	0.35364	0.0929	L	0.37750	1.13	0.80722	D	1	D;B	0.54397	0.966;0.09	P;B	0.53450	0.726;0.013	T	0.11494	-1.0585	10	0.48119	T	0.1	.	13.2104	0.59821	0.0:0.8384:0.1616:0.0	.	363;535	E9PGS7;Q9UPR5	.;NAC2_HUMAN	N	363;535;291	ENSP00000236877:S535N;ENSP00000437536:S291N	ENSP00000236877:S535N	S	-	2	0	SLC8A2	52643037	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.695000	0.61767	1.088000	0.41272	-0.326000	0.08463	AGC	.		0.736	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47951225	C	T	47951225	3	4	31	1	0	0	0	0	1	0	0	0	14752	797	28	3	1189	3	SLC8A2	19	47951225	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	30732	47951225	11177758	2109	7661											
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48183685	48183685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccccgcgcctgcgctgCaagcgaacgtcttcaagcag	11	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:48183685C>T	ENST00000396720.3	+	6	1452	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	420										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)		GCCTGCGCTGCAAGCGAACGT	0.716																																					p.Q420X		.											.	GLTSCR1-48	0			c.C1258T						.						9	12	11					19																	48183685		1629	3380	5009	SO:0001587	stop_gained	29998	exon6			GCGCTGCAAGCGA	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.1258C>T	19.37:g.48183685C>T	ENSP00000379946:p.Gln420*	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	20	8	NM_015711	0	0	0	0	0	A8MW01	Nonsense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170897	0.78452	.	.	ENSG00000063169	ENST00000396720	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.2068	0.73186	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000379946:Q420X	Q	+	1	0	GLTSCR1	52875497	0.998000	0.40836	0.939000	0.37840	0.049000	0.14656	2.081000	0.41596	2.101000	0.63845	0.491000	0.48974	CAA	.		0.716	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		T	48183685	C	T	48183685	4	4	31	1	0	0	0	0	0	1	0	0	6500	711	25	3	1272	3	GLTSCR1	19	48183685	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	232460	48183685	10945298	2110	7662											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagctggcgcggcggcAgaggcggcggcaggcgcggc	24	12	0	1	rs1804994	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1	2	1					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015710	0	0	0	0	0	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		G	48258717	A	G	48258717	3	3	31	1	0	0	0	0	1	0	0	0	6501	188	7	4	1200	4	GLTSCR2	19	48258717	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	75032	48258717	10870266	2111	7663											
RPL13A	23521	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	49994074	49994074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaagcgaggccaggccgctCtggaccgtctcaaggtgttt	13	13	2	0	rs1061320		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:49994074C>G	ENST00000391857.4	+	5	371	c.295C>G	c.(295-297)Ctg>Gtg	p.L99V	SNORD33_ENST00000362761.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	99					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAGGCCGCTCTGGACCGTCT	0.612																																					p.L99V		.											.	RPL13A-90	0			c.C295G						.						63	59	60					19																	49994074		2203	4300	6503	SO:0001583	missense	23521	exon5			GCCGCTCTGGACC	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.295C>G	19.37:g.49994074C>G	ENSP00000375730:p.Leu99Val	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	201	125	NM_012423	0	0	0	0	0	A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252727	0.59212	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.72	0.973	0.19710	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.53938	U	0.000050	T	0.78407	0.4278	M	0.91561	3.22	0.54753	D	0.999989	P;D	0.57899	0.907;0.981	P;D	0.64237	0.781;0.923	T	0.79135	-0.1928	9	0.87932	D	0	.	9.1502	0.36957	0.0:0.6652:0.0:0.3348	.	99;99	Q5QTS3;P40429	.;RL13A_HUMAN	V	99	.	ENSP00000375730:L99V	L	+	1	2	RPL13A	54685886	0.759000	0.28416	0.943000	0.38184	0.883000	0.51084	0.680000	0.25306	0.283000	0.22279	-0.137000	0.14449	CTG	C|1.000;|0.000		0.612	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			G	49994074	C	G	49994074	3	3	31	1	0	0	0	0	1	0	0	0	13605	912	32	3	313	3	RPL13A	19	49994074	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1735357	49994074	9134909	2112	7664											
SCAF1	58506	hgsc.bcm.edu	37	chr19	50155523	50155523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatcgtcgtcctcgaGgcgcgagcggcaccgcggga	14	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50155523G>T	ENST00000360565.3	+	7	2001	c.1877G>T	c.(1876-1878)aGg>aTg	p.R626M		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	626	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGTCCTCGAGGCGCGAGCGG	0.751																																					p.R626M		.											.	SCAF1-68	0			c.G1877T						.						2	2	2					19																	50155523		1462	3081	4543	SO:0001583	missense	58506	exon7			CCTCGAGGCGCGA	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1877G>T	19.37:g.50155523G>T	ENSP00000353769:p.Arg626Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	13	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137053	0.09032	.	.	ENSG00000126461	ENST00000360565	T	0.39056	1.1	3.95	3.95	0.45737	.	0.000000	0.39475	N	0.001357	T	0.47655	0.1457	L	0.27053	0.805	0.20873	N	0.999832	D	0.64830	0.994	D	0.67382	0.951	T	0.33828	-0.9853	9	.	.	.	-21.7886	13.56	0.61784	0.0:0.0:1.0:0.0	.	626	Q9H7N4	SFR19_HUMAN	M	626	ENSP00000353769:R626M	.	R	+	2	0	SCAF1	54847335	0.789000	0.28775	0.398000	0.26321	0.371000	0.29859	-0.626000	0.05527	2.060000	0.61445	0.561000	0.74099	AGG	.		0.751	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50155523	G	T	50155523	3	4	31	1	0	0	0	0	1	0	0	0	13913	1000	35	3	1899	3	SCAF1	19	50155523	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	161449	50155523	8973460	2113	7665											
CPT1C	126129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50209636	50209636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcgttggatgcctacGcccatgctctgctggccggc	13	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50209636G>A	ENST00000392518.4	+	12	1681	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	CPT1C_ENST00000354199.5_Missense_Mutation_p.A437T|CPT1C_ENST00000405931.2_Missense_Mutation_p.A426T|CPT1C_ENST00000598293.1_Missense_Mutation_p.A437T|CPT1C_ENST00000323446.5_Missense_Mutation_p.A437T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	437					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)			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)		GGATGCCTACGCCCATGCTCT	0.662																																					p.A437T		.											.	CPT1C-92	0			c.G1309A						.						15	18	17					19																	50209636		2191	4280	6471	SO:0001583	missense	126129	exon12			GCCTACGCCCATG	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.1309G>A	19.37:g.50209636G>A	ENSP00000376303:p.Ala437Thr	Somatic	54	1		WXS	Illumina GAIIx	Phase_I	83	45	NM_001199752	0	0	0	0	0	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978918	0.53827	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.36	3.33	0.38152	.	0.000000	0.47455	D	0.000239	D	0.90995	0.7168	L	0.60845	1.875	0.38531	D	0.948966	D;D;D;D	0.76494	0.977;0.999;0.99;0.996	P;P;P;P	0.59825	0.782;0.864;0.601;0.819	D	0.91879	0.5514	10	0.87932	D	0	-24.3638	11.2005	0.48739	0.0921:0.0:0.9079:0.0	.	308;437;426;437	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	T	437;437;426;437;308	ENSP00000376303:A437T;ENSP00000346138:A437T;ENSP00000384465:A426T;ENSP00000319343:A437T	ENSP00000295404:A308T	A	+	1	0	CPT1C	54901448	1.000000	0.71417	0.747000	0.31113	0.009000	0.06853	6.813000	0.75231	1.066000	0.40716	-0.142000	0.14014	GCC	.		0.662	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		A	50209636	G	A	50209636	3	1	31	1	0	0	0	0	1	0	0	0	3840	1087	38	1	1347	1	CPT1C	19	50209636	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	54113	50209636	8919347	2114	7666											
IL4I1	259307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50404912	50404912	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcatggctgcctctgGggggctctctcagcacccat	11	15	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50404912G>T	ENST00000595948.1	-	4	683	c.63C>A	c.(61-63)ccC>ccA	p.P21P	IL4I1_ENST00000341114.3_Silent_p.P21P	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	0						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCTGCCTCTGGGGGGCTCTCT	0.597																																					p.P21P		.											.	IL4I1-523	0			c.C63A						.						54	54	54					19																	50404912		1703	3042	4745	SO:0001819	synonymous_variant	259307	exon4			CCTCTGGGGGGCT	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000595948.1:c.63C>A	19.37:g.50404912G>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	81	54	NM_172374	0	0	0	0	0	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000595948.1	37	CCDS12786.1																																																																																			.		0.597	IL4I1-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466416.1			T	50404912	G	T	50404912	2	4	31	1	0	0	0	0	0	0	0	1	7724	1219	43	3		3	IL4I1	19	50404912	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	195276	50404912	8724071	2115	7667											
MYBPC2	4606	hgsc.bcm.edu	37	chr19	50962397	50962397	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccccaggtggtgtggacCaagggcggggccccgctgga	19	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50962397C>A	ENST00000357701.5	+	23	2676	c.2625C>A	c.(2623-2625)acC>acA	p.T875T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	875	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGTGTGGACCAAGGGCGGGG	0.746																																					p.T875T		.											.	MYBPC2-67	0			c.C2625A						.						7	9	8					19																	50962397		1862	4010	5872	SO:0001819	synonymous_variant	4606	exon23			GTGGACCAAGGGC		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2625C>A	19.37:g.50962397C>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	41	22	NM_004533	0	0	0	0	0	A1L4G9	Silent	SNP	ENST00000357701.5	37	CCDS46152.1																																																																																			.		0.746	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50962397	C	A	50962397	2	1	31	1	0	0	0	0	0	0	0	1	10050	581	21	3		3	MYBPC2	19	50962397	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	557485	50962397	8166586	2116	7668											
KLK7	5650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51480918	51480918	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagaccttgcagggtaccTctgcacaccaacggtccccc	8	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51480918T>A	ENST00000391807.1	-	6	737	c.636A>T	c.(634-636)agA>agT	p.R212S	KLK7_ENST00000595820.1_Missense_Mutation_p.R212S|KLK7_ENST00000336317.4_Missense_Mutation_p.R99S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Missense_Mutation_p.R140S	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GCAGGGTACCTCTGCACACCA	0.517																																					p.R212S		.											.	KLK7-650	0			c.A636T						.						110	97	101					19																	51480918		2203	4300	6503	SO:0001583	missense	5650	exon6			GGTACCTCTGCAC	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.636A>T	19.37:g.51480918T>A	ENSP00000375683:p.Arg212Ser	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	99	57	NM_139277	0	0	0	0	0	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.933175	0.52866	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;T	0.87729	-2.29;3.15	4.9	-3.5	0.04710	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.059090	0.07578	U	0.919848	T	0.73753	0.3627	N	0.11724	0.165	0.28204	N	0.927212	B	0.15930	0.015	B	0.25506	0.061	T	0.62034	-0.6939	10	0.54805	T	0.06	.	6.3035	0.21125	0.4511:0.0:0.3504:0.1985	.	212	P49862	KLK7_HUMAN	S	212;212;99	ENSP00000375683:R212S;ENSP00000337540:R99S	ENSP00000304791:R212S	R	-	3	2	KLK7	56172730	0.619000	0.27059	0.077000	0.20336	0.975000	0.68041	-0.159000	0.10056	-0.289000	0.09038	0.368000	0.22195	AGA	.		0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		A	51480918	T	A	51480918	3	1	31	1	0	0	0	0	1	0	0	0	8436	1548	54	5	129	5	KLK7	19	51480918	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	518521	51480918	7648065	2117	7669											
SIGLEC8	27181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51958781	51958781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgtgcactcgaggcagCtccagcagcccagggtttga	12	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51958781C>A	ENST00000321424.3	-	4	1008	c.942G>T	c.(940-942)gaG>gaT	p.E314D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E205D|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E221D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCGAGGCAGCTCCAGCAGCC	0.632																																					p.E314D		.											.	SIGLEC8-94	0			c.G942T						.						48	46	47					19																	51958781		2203	4300	6503	SO:0001583	missense	27181	exon4			AGGCAGCTCCAGC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.942G>T	19.37:g.51958781C>A	ENSP00000321077:p.Glu314Asp	Somatic	175	1		WXS	Illumina GAIIx	Phase_I	152	93	NM_014442	0	0	0	0	0	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.737610	0.30774	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12255	2.7;2.7;2.7	2.19	-0.0784	0.13715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	N	0.001908	T	0.26085	0.0636	M	0.67397	2.05	0.09310	N	1	D;P;P	0.76494	0.999;0.815;0.91	D;P;P	0.77004	0.989;0.755;0.737	T	0.04191	-1.0970	10	0.52906	T	0.07	.	4.4508	0.11619	0.0:0.6447:0.0:0.3553	.	205;221;314	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	D	205;314;221	ENSP00000389142:E205D;ENSP00000321077:E314D;ENSP00000339448:E221D	ENSP00000321077:E314D	E	-	3	2	SIGLEC8	56650593	0.130000	0.22417	0.005000	0.12908	0.024000	0.10985	-0.459000	0.06728	0.052000	0.16007	0.502000	0.49764	GAG	.		0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51958781	C	A	51958781	3	1	31	1	0	0	0	0	1	0	0	0	14359	796	28	3	573	3	SIGLEC8	19	51958781	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	477863	51958781	7170202	2118	7670											
SIGLEC8	27181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	51961365	51961365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggagttggaatcggccctGggtctctgcctgcacttctc	12	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51961365G>C	ENST00000321424.3	-	1	343	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Q93E|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Q93E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	93	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Q93K(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATCGGCCCTGGGTCTCTGCC	0.557																																					p.Q93E		.											.	SIGLEC8-94	1	Substitution - Missense(1)	lung(1)	c.C277G						.						192	169	177					19																	51961365		2203	4300	6503	SO:0001583	missense	27181	exon1			GGCCCTGGGTCTC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.277C>G	19.37:g.51961365G>C	ENSP00000321077:p.Gln93Glu	Somatic	280	1		WXS	Illumina GAIIx	Phase_I	177	108	NM_014442	0	0	0	0	0	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.343920	0.24339	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.65364	-0.15;-0.15;-0.15	1.91	-2.46	0.06461	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.119980	0.07016	N	0.826000	T	0.64227	0.2579	M	0.89715	3.055	0.09310	N	1	P;B;B	0.36587	0.559;0.223;0.396	B;B;B	0.37943	0.088;0.058;0.261	T	0.58719	-0.7587	10	0.66056	D	0.02	.	2.7438	0.05262	0.1718:0.0:0.3474:0.4808	.	93;93;93	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	93	ENSP00000389142:Q93E;ENSP00000321077:Q93E;ENSP00000339448:Q93E	ENSP00000321077:Q93E	Q	-	1	0	SIGLEC8	56653177	0.000000	0.05858	0.099000	0.21106	0.479000	0.33129	-0.011000	0.12721	-0.488000	0.06726	0.405000	0.27470	CAG	.		0.557	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		C	51961365	G	C	51961365	3	2	31	1	0	0	0	0	1	0	0	0	14359	1357	47	3	1250	3	SIGLEC8	19	51961365	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2584	51961365	7167618	2119	7671											
FPR2	2358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52272299	52272299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctgcatttgtgtcctgcatCcagtctgggcccagaaccac	10	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:52272299C>G	ENST00000598776.1	+	2	1160	c.388C>G	c.(388-390)Cca>Gca	p.P130A	FPR2_ENST00000598953.1_Missense_Mutation_p.P130A|FPR2_ENST00000340023.6_Missense_Mutation_p.P130A	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	130					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGTCCTGCATCCAGTCTGGGC	0.498																																					p.P130A		.											.	FPR2-501	0			c.C388G						.						142	126	131					19																	52272299		2203	4300	6503	SO:0001583	missense	2358	exon2			CTGCATCCAGTCT	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.388C>G	19.37:g.52272299C>G	ENSP00000468897:p.Pro130Ala	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	106	66	NM_001005738	0	0	0	0	0	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117691	0.77323	.	.	ENSG00000171049	ENST00000340023	T	0.60424	0.19	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.71804	0.3383	M	0.68728	2.09	0.46701	D	0.999166	D	0.89917	1.0	D	0.91635	0.999	T	0.73496	-0.3964	10	0.48119	T	0.1	.	13.1307	0.59380	0.0:1.0:0.0:0.0	.	130	P25090	FPR2_HUMAN	A	130	ENSP00000340191:P130A	ENSP00000340191:P130A	P	+	1	0	FPR2	56964111	1.000000	0.71417	0.954000	0.39281	0.961000	0.63080	5.327000	0.65881	2.031000	0.59945	0.491000	0.48974	CCA	.		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		G	52272299	C	G	52272299	3	3	31	1	0	0	0	0	1	0	0	0	6063	855	30	3	390	3	FPR2	19	52272299	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	310934	52272299	6856684	2120	7672											
LILRB3	11025	bcgsc.ca	37	chr19	54722275	54722275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagactgtgtgtccttcacGgcagcatctgctggggcaga	13	11	3	2	rs1132609	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54722275G>A	ENST00000391750.1	-	12	1684	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	LILRB3_ENST00000407860.2_Silent_p.A533A|LILRB3_ENST00000245620.9_Silent_p.A516A|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Silent_p.A516A|LILRA6_ENST00000270464.5_Silent_p.A516A|LILRA6_ENST00000440558.2_Silent_p.A516A|LILRB3_ENST00000424807.1_Silent_p.A516A|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Silent_p.A528A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	516					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTTCACGGCAGCATCTG	0.632													.|||	1152	0.230032	0.0166	0.2262	5008	,	,		17986	0.252		0.2883	False		,,,				2504	0.4387				p.A516A		.											.	LILRB3-93	0			c.C1548T						.	G	,	246,4160	142.7+/-177.9	14,218,1971	115	100	105		1548,1548	-6.2	0	19	dbSNP_86	105	2593,6007	420.0+/-353.3	403,1787,2110	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	417,2005,4081	AA,AG,GG		30.1512,5.5833,21.8284	,	516/633,516/632	54722275	2839,10167	2203	4300	6503	SO:0001819	synonymous_variant	11025	exon11			CTTCACGGCAGCA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1548C>T	19.37:g.54722275G>A		Somatic	318	2		WXS	Illumina GAIIx	Phase_I	261	7	NM_006864	0	0	0	0	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			.		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54722275	G	A	54722275	2	1	31	1	0	0	0	0	0	0	0	1	8821	1103	39	1		1	LILRB3	19	54722275	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2449976	54722275	4406708	2121	7673											
LILRA6	79168	bcgsc.ca	37	chr19	54744361	54744361	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaaagtgtcaaaataAccccgtgactgacacagcag	10	9	1	3	rs2361801	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744361A>C	ENST00000396365.2	-	6	1086	c.1047T>G	c.(1045-1047)ggT>ggG	p.G349G	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.G349G|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.G349G	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	349	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCAAAATAACCCCGTGACT	0.557													.|||	1979	0.395168	0.3434	0.3818	5008	,	,		18566	0.4514		0.3857	False		,,,				2504	0.4264				p.G349G		.											.	LILRA6-24	0			c.T1047G						.	C		1431,2481		371,689,896	74	99	91		1047	-2.4	0	19	dbSNP_100	91	2722,5620		494,1734,1943	no	coding-synonymous	LILRA6	NM_024318.2		865,2423,2839	CC,CA,AA		32.6301,36.5798,33.891		349/482	54744361	4153,8101	1956	4171	6127	SO:0001819	synonymous_variant	79168	exon6			AAAATAACCCCGT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1047T>G	19.37:g.54744361A>C		Somatic	513	28		WXS	Illumina GAIIx	Phase_I	396	31	NM_024318	0	0	0	0	0		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																			C|0.414;A|0.586		0.557	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		C	54744361	A	C	54744361	2	2	31	1	0	0	0	0	0	0	0	1	8818	30	2	5		5	LILRA6	19	54744361	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	22086	54744361	4384622	2122	7674			6	34		3	3	81	N	C_A	2.026129e-05
LILRA6	79168	bcgsc.ca	37	chr19	54744387	54744387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgacacagcagggtcaCgttctctcctgaggccactg	11	13	2	3	rs71263238	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744387C>T	ENST00000396365.2	-	6	1060	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.V341M|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.V341M	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	341	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCAGGGTCACGTTCTCTCCT	0.582																																					p.V341M		.											.	LILRA6-24	0			c.G1021A						.	C	MET/VAL	1667,2543		384,899,822	40	57	51		1021	1.1	0.4	19	dbSNP_130	51	3076,5426		408,2260,1583	yes	missense	LILRA6	NM_024318.2	21	792,3159,2405	TT,TC,CC		36.1797,39.5962,37.3112		341/482	54744387	4743,7969	2105	4251	6356	SO:0001583	missense	79168	exon6			GGGTCACGTTCTC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1021G>A	19.37:g.54744387C>T	ENSP00000379651:p.Val341Met	Somatic	436	4		WXS	Illumina GAIIx	Phase_I	351	9	NM_024318	0	0	0	0	0		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	744	0.34065934065934067	195	0.39634146341463417	123	0.3397790055248619	162	0.28321678321678323	264	0.3482849604221636	C	13.36	2.213853	0.39102	0.395962	0.361797	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.01215	5.16;5.16;5.16	2.16	1.1	0.20463	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.027150	0.07816	N	0.958912	T	0.00012	0.0000	M	0.86651	2.83	0.31233	P	0.696064	D;D;D	0.89917	1.0;0.974;1.0	P;P;D	0.83275	0.906;0.703;0.996	T	0.44877	-0.9299	9	0.48119	T	0.1	.	4.6406	0.12546	0.0:0.8064:0.0:0.1936	.	341;341;341	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	M	341	ENSP00000411227:V341M;ENSP00000379651:V341M;ENSP00000245621:V341M	ENSP00000245621:V341M	V	-	1	0	LILRA6	59436199	0.006000	0.16342	0.448000	0.26945	0.180000	0.23129	0.793000	0.26944	0.470000	0.27294	0.195000	0.17529	GTG	C|0.659;T|0.341		0.582	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744387	C	T	54744387	3	4	31	1	0	0	0	0	1	0	0	0	8818	536	19	1	436	1	LILRA6	19	54744387	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	26	54744387	4384596	2123	7675			6	34		3	3	81	N	C_A	2.026129e-05
LILRA6	79168	broad.mit.edu	37	chr19	54744441	54744441	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctgacagggagacggtgtCatagatctgtcctggagaga	15	7	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744441C>G	ENST00000396365.2	-	6	1006	c.967G>C	c.(967-969)Gac>Cac	p.D323H	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.D323H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.D323H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	323	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGACGGTGTCATAGATCTGT	0.597																																					p.D323H		.											.	LILRA6-24	0			c.G967C						.						12	17	15					19																	54744441		2067	4227	6294	SO:0001583	missense	79168	exon6			CGGTGTCATAGAT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.967G>C	19.37:g.54744441C>G	ENSP00000379651:p.Asp323His	Somatic	274	0		WXS	Illumina GAIIx	Phase_I	232	5	NM_024318	0	0	0	0	0		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864320	0.17250	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00784	5.7;5.7;5.7	1.86	-3.72	0.04411	Immunoglobulin-like fold (1);	1.446590	0.04947	N	0.459591	T	0.01061	0.0035	M	0.68728	2.09	0.09310	N	1	B;B;P	0.43314	0.384;0.413;0.803	B;B;B	0.39660	0.306;0.059;0.176	T	0.23404	-1.0189	10	0.49607	T	0.09	.	0.8949	0.01261	0.1801:0.2255:0.3581:0.2363	.	323;323;323	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	H	323	ENSP00000411227:D323H;ENSP00000379651:D323H;ENSP00000245621:D323H	ENSP00000245621:D323H	D	-	1	0	LILRA6	59436253	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.541000	0.02198	-1.737000	0.01350	0.195000	0.17529	GAC	.		0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54744441	C	G	54744441	3	3	31	1	0	0	0	0	1	0	0	0	8818	826	29	3	490	3	LILRA6	19	54744441	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	54	54744441	4384542	2124	7676			6	34		3	3	81	N	C_A	2.026129e-05
TTYH1	57348	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	54930366	54930366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcattttcatcgctgTctacctcatccgcttctgct	6	15	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54930366T>C	ENST00000376530.3	+	2	294	c.191T>C	c.(190-192)gTc>gCc	p.V64A	TTYH1_ENST00000301194.4_Missense_Mutation_p.V64A|TTYH1_ENST00000391739.3_Missense_Mutation_p.V113A|TTYH1_ENST00000376531.3_Missense_Mutation_p.V64A	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	64					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TTCATCGCTGTCTACCTCATC	0.687																																					p.V64A		.											.	TTYH1-90	0			c.T191C						.						64	65	65					19																	54930366		2203	4299	6502	SO:0001583	missense	57348	exon2			TCGCTGTCTACCT	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.191T>C	19.37:g.54930366T>C	ENSP00000365713:p.Val64Ala	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	57	39	NM_020659	0	0	0	0	0	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385069	0.61956	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	3.5	2.48	0.30137	.	0.303928	0.27420	N	0.019453	T	0.17492	0.0420	N	0.25286	0.73	0.28299	N	0.923195	D;D;D;D	0.69078	0.997;0.981;0.99;0.997	D;P;P;D	0.79108	0.992;0.529;0.624;0.992	T	0.07385	-1.0775	10	0.23891	T	0.37	-23.0555	6.9206	0.24385	0.0:0.1154:0.0:0.8846	.	113;64;64;64	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	A	36;60;64;64;113;113;64	ENSP00000391282:V60A;ENSP00000301194:V64A;ENSP00000365713:V64A;ENSP00000393592:V113A;ENSP00000375619:V113A;ENSP00000365714:V64A	ENSP00000301194:V64A	V	+	2	0	TTYH1	59622178	0.999000	0.42202	0.999000	0.59377	0.993000	0.82548	1.062000	0.30555	0.557000	0.29117	0.454000	0.30748	GTC	.		0.687	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			C	54930366	T	C	54930366	3	2	31	1	0	0	0	0	1	0	0	0	16788	1667	58	4	197	4	TTYH1	19	54930366	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	185925	54930366	4198617	2125	7677											
NLRP7	199713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55451819	55451819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttctccattgaatttctcCatccttccttttcacctgca	3	14	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:55451819C>A	ENST00000590030.1	-	3	408	c.368G>T	c.(367-369)tGg>tTg	p.W123L	NLRP7_ENST00000446217.1_Missense_Mutation_p.W151L|NLRP7_ENST00000328092.5_Missense_Mutation_p.W123L|NLRP7_ENST00000592784.1_Missense_Mutation_p.W123L|NLRP7_ENST00000340844.2_Missense_Mutation_p.W123L|NLRP7_ENST00000588756.1_Missense_Mutation_p.W123L|NLRP7_ENST00000448121.2_Missense_Mutation_p.W123L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	123							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTCTCCATCCTTCCTT	0.438																																					p.W123L		.											.	NLRP7-291	0			c.G368T						.						258	286	277					19																	55451819		2203	4300	6503	SO:0001583	missense	199713	exon4			TTTCTCCATCCTT	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.368G>T	19.37:g.55451819C>A	ENSP00000465520:p.Trp123Leu	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	40	26	NM_001127255	0	0	0	0	0	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352010	0.01256	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.72835	-0.64;-0.64;-0.69;-0.68	1.72	-2.66	0.06077	.	.	.	.	.	T	0.40015	0.1100	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.0;0.005	B;B;B;B	0.12156	0.0;0.0;0.0;0.007	T	0.20940	-1.0260	9	0.12766	T	0.61	.	2.981	0.05953	0.0:0.3644:0.2418:0.3938	.	151;123;123;123	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	123;123;123;151	ENSP00000329568:W123L;ENSP00000409137:W123L;ENSP00000339491:W123L;ENSP00000414273:W151L	ENSP00000329568:W123L	W	-	2	0	NLRP7	60143631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.508000	0.02266	-0.784000	0.04528	-0.253000	0.11424	TGG	.		0.438	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55451819	C	A	55451819	3	1	31	1	0	0	0	0	1	0	0	0	10521	595	21	3	2777	3	NLRP7	19	55451819	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	521453	55451819	3677164	2126	7678											
NLRP2	55655	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	55481494	55481494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgaccttctccctggcacaCgagctccagaagatccccca	7	18	1	2	rs367922223		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:55481494C>A	ENST00000543010.1	+	2	254	c.111C>A	c.(109-111)caC>caA	p.H37Q	NLRP2_ENST00000448584.2_Missense_Mutation_p.H37Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.H37Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.H37Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.H37Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.H37Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.H37Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.H37Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	37	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTGGCACACGAGCTCCAGA	0.557																																					p.H37Q		.											.	NLRP2-120	0			c.C111A						.						105	92	97					19																	55481494		2203	4300	6503	SO:0001583	missense	55655	exon2			GGCACACGAGCTC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.111C>A	19.37:g.55481494C>A	ENSP00000445135:p.His37Gln	Somatic	179	2		WXS	Illumina GAIIx	Phase_I	160	90	NM_001174082	0	0	0	0	0	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	3.156	-0.173082	0.06421	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T;T	0.57107	0.9;0.9;0.9;0.9;0.9;0.9;0.42;0.9;0.9	1.88	-1.74	0.08056	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.003;0.005;0.006;0.005;0.006	B;B;B;B;B	0.20184	0.001;0.006;0.017;0.01;0.028	T	0.20538	-1.0272	9	0.13470	T	0.59	.	2.9449	0.05842	0.0:0.3404:0.2531:0.4064	.	37;37;37;37;37	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Q	37	ENSP00000443519:H37Q;ENSP00000445135:H37Q;ENSP00000375601:H37Q;ENSP00000344074:H37Q;ENSP00000409370:H37Q;ENSP00000440601:H37Q;ENSP00000402474:H37Q;ENSP00000441133:H37Q;ENSP00000263437:H37Q	ENSP00000263437:H37Q	H	+	3	2	NLRP2	60173306	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.442000	0.02407	-0.591000	0.05859	-0.599000	0.04106	CAC	.		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55481494	C	A	55481494	3	1	31	1	0	0	0	0	1	0	0	0	10516	535	19	2	113	2	NLRP2	19	55481494	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	29675	55481494	3647489	2127	7679											
NLRP4	147945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56369475	56369475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaagagctgcagggcgGcttgaacgaacccgattcgg	14	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56369475G>C	ENST00000301295.6	+	3	1138	c.716G>C	c.(715-717)gGc>gCc	p.G239A	NLRP4_ENST00000587891.1_Missense_Mutation_p.G164A|NLRP4_ENST00000346986.5_Missense_Mutation_p.G239A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	239	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCAGGGCGGCTTGAACGAA	0.562																																					p.G239A		.											.	NLRP4-216	0			c.G716C						.						81	83	83					19																	56369475		2203	4300	6503	SO:0001583	missense	147945	exon3			AGGGCGGCTTGAA	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.716G>C	19.37:g.56369475G>C	ENSP00000301295:p.Gly239Ala	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	109	64	NM_134444	0	0	0	0	0	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	8.574	0.880708	0.17467	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.77229	-1.08;-1.08	4.1	-4.42	0.03579	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43964	0.1271	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.33883	0.026;0.43;0.336	B;B;B	0.33960	0.059;0.108;0.173	T	0.46005	-0.9222	9	0.10636	T	0.68	.	6.8017	0.23754	0.4968:0.3252:0.178:0.0	.	239;164;239	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	A	239	ENSP00000301295:G239A;ENSP00000344787:G239A	ENSP00000301295:G239A	G	+	2	0	NLRP4	61061287	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	-0.919000	0.03803	-1.202000	0.01658	GGC	.		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		C	56369475	G	C	56369475	3	2	31	1	0	0	0	0	1	0	0	0	10518	1203	42	3	722	3	NLRP4	19	56369475	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	887981	56369475	2759508	2128	7680											
NLRP8	126205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	56466259	56466259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaagattatgtccaaacccGaccaacttctgctgctcttg	6	13	2	1	rs544368279		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56466259G>T	ENST00000291971.3	+	3	906	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D279Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	279	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		GTCCAAACCCGACCAACTTCT	0.522																																					p.D279Y		.											.	NLRP8-361	0			c.G835T						.						185	181	183					19																	56466259		2203	4300	6503	SO:0001583	missense	126205	exon3			AAACCCGACCAAC	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.835G>T	19.37:g.56466259G>T	ENSP00000291971:p.Asp279Tyr	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	96	58	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990187	0.35131	.	.	ENSG00000179709	ENST00000291971	T	0.24723	1.84	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.38401	0.1039	L	0.46157	1.445	0.09310	N	0.999999	D;D	0.76494	0.999;0.993	D;D	0.68943	0.961;0.934	T	0.07121	-1.0789	9	0.72032	D	0.01	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	279;279	Q86W28-2;Q86W28	.;NALP8_HUMAN	Y	279	ENSP00000291971:D279Y	ENSP00000291971:D279Y	D	+	1	0	NLRP8	61158071	0.122000	0.22280	0.008000	0.14137	0.143000	0.21401	1.343000	0.33930	1.453000	0.47775	0.514000	0.50259	GAC	.		0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56466259	G	T	56466259	3	4	31	1	0	0	0	0	1	0	0	0	10522	1058	37	2	845	2	NLRP8	19	56466259	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	96784	56466259	2662724	2129	7681											
NLRP8	126205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	8	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56466706G>T	ENST00000291971.3	+	3	1353	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(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)		CTCTGTGTTCGTCCGGTATAT	0.498																																					p.V428F		.											.	NLRP8-361	1	Substitution - Missense(1)	kidney(1)	c.G1282T						.						88	90	90					19																	56466706		2203	4300	6503	SO:0001583	missense	126205	exon3			GTGTTCGTCCGGT	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.1282G>T	19.37:g.56466706G>T	ENSP00000291971:p.Val428Phe	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	88	47	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395090	0.25205	.	.	ENSG00000179709	ENST00000291971	D	0.84660	-1.88	1.78	-1.96	0.07525	.	.	.	.	.	D	0.86686	0.5992	L	0.54323	1.7	0.09310	N	1	P;D	0.63880	0.837;0.993	B;D	0.65573	0.424;0.936	T	0.76072	-0.3093	9	0.66056	D	0.02	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	428	ENSP00000291971:V428F	ENSP00000291971:V428F	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC	.		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56466706	G	T	56466706	3	4	31	1	0	0	0	0	1	0	0	0	10522	1145	40	2	1292	2	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	447	56466706	2662277	2130	7682											
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56539330	56539331	+	Nonsense_Mutation	DNP	GG	GG	CT													ctcccagacagccactgtgaGgagtactacaccttcttcca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56539330_56539331GG>CT	ENST00000390649.3	+	7	1731_1732	c.1731_1732GG>CT	c.(1729-1734)gaGGag>gaCTag	p.577_578EE>D*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	577	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCACTGTGAGGAGTACTACAC	0.545																																					p.E577D|p.E578X		.											.	NLRP5-162	0			c.G1731C|c.G1732T						.																																			SO:0001587	stop_gained	126206	exon7			CTGTGAGGAGTAC|TGTGAGGAGTACT	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	Exception_encountered	19.37:g.56539330_56539331delinsCT	ENSP00000375063:p.E577_E578delinsD*	Somatic	157|160	1		WXS	Illumina GAIIx	Phase_I	143|141	81|79	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			.		0.545	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		CT	56539331	GG	CT	56539330	4	2	31	1	0	0	0	0	0	1	0	0	10519	991	35	3	1757	3	NLRP5	19	56539330	Nonsense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	72624	56539330	2589653	2131	7683											
NLRP5	126206	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	56569695	56569695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccagtctaaacctggTgcagaataacttcagtccca	7	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56569695T>A	ENST00000390649.3	+	14	3389	c.3389T>A	c.(3388-3390)gTg>gAg	p.V1130E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1130					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)		CTAAACCTGGTGCAGAATAAC	0.502																																					p.V1130E		.											.	NLRP5-162	0			c.T3389A						.						126	123	124					19																	56569695		2028	4195	6223	SO:0001583	missense	126206	exon14			ACCTGGTGCAGAA	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.3389T>A	19.37:g.56569695T>A	ENSP00000375063:p.Val1130Glu	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	94	54	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	9.141	1.013954	0.19277	.	.	ENSG00000171487	ENST00000390649	T	0.51325	0.71	3.36	1.25	0.21368	.	0.485205	0.15335	N	0.267815	T	0.24314	0.0589	N	0.19112	0.55	0.09310	N	1	P	0.46859	0.885	B	0.34873	0.191	T	0.13495	-1.0507	10	0.62326	D	0.03	.	5.3772	0.16172	0.0:0.2383:0.0:0.7617	.	1130	P59047	NALP5_HUMAN	E	1130	ENSP00000375063:V1130E	ENSP00000375063:V1130E	V	+	2	0	NLRP5	61261507	0.010000	0.17322	0.003000	0.11579	0.007000	0.05969	-0.045000	0.12003	0.186000	0.20125	-1.145000	0.01858	GTG	.		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56569695	T	A	56569695	3	1	31	1	0	0	0	0	1	0	0	0	10519	1696	59	5	3443	5	NLRP5	19	56569695	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	30365	56569695	2559288	2132	7684											
PEG3	5178	ucsc.edu;bcgsc.ca	37	chr19	57325099	57325099	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggcggtcattgaagagctGcccacagacgtcacatttga	11	11	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57325099G>C	ENST00000326441.9	-	10	5074	c.4711C>G	c.(4711-4713)Cag>Gag	p.Q1571E	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1447E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1571E|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1445E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1571					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGAAGAGCTGCCCACAGACG	0.542																																					p.Q1571E		.											.	PEG3-164	0			c.C4711G						.						118	102	108					19																	57325099		2203	4300	6503	SO:0001583	missense	5178	exon9			AGAGCTGCCCACA	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4711C>G	19.37:g.57325099G>C	ENSP00000326581:p.Gln1571Glu	Somatic	249	2		WXS	Illumina GAIIx	Phase_I	165	90	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268075	0.59540	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.50001	0.76;0.76	4.09	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001069	T	0.46092	0.1375	N	0.11201	0.11	.	.	.	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68765	0.96;0.96;0.96	T	0.58188	-0.7680	9	0.48119	T	0.1	-32.1392	12.1124	0.53846	0.0:0.0:1.0:0.0	.	1447;1571;1506	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	1571	ENSP00000326581:Q1571E;ENSP00000403051:Q1571E	ENSP00000326581:Q1571E	Q	-	1	0	ZIM2	62016911	0.995000	0.38212	1.000000	0.80357	0.778000	0.44026	1.876000	0.39588	2.569000	0.86673	0.591000	0.81541	CAG	.		0.542	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57325099	G	C	57325099	3	2	31	1	0	0	0	0	1	0	0	0	11759	1328	46	3	59	3	PEG3	19	57325099	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	755404	57325099	1803884	2133	7685											
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	57334984	57334984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaatggactgagtgaggtGgtgaggactctcttctgttc	14	6	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57334984G>T	ENST00000326441.9	-	5	821	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	ZIM2_ENST00000391708.3_Missense_Mutation_p.P27Q|PEG3_ENST00000598410.1_Missense_Mutation_p.P27Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.P27Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.P27Q|ZIM2_ENST00000593931.1_Missense_Mutation_p.P27Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.P27Q|PEG3_ENST00000423103.2_Missense_Mutation_p.P153Q|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000599935.1_Missense_Mutation_p.P27Q|PEG3_ENST00000593695.1_Missense_Mutation_p.P27Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	153					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGTGAGGTGGTGAGGACTC	0.562																																					p.P153Q		.											.	PEG3-164	0			c.C458A						.						296	210	239					19																	57334984		2203	4300	6503	SO:0001583	missense	5178	exon4			TGAGGTGGTGAGG	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.458C>A	19.37:g.57334984G>T	ENSP00000326581:p.Pro153Gln	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	166	92	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436478	0.43224	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.11277	2.79;2.79;4.0;4.0	4.15	2.0	0.26442	.	0.316966	0.23183	N	0.050994	T	0.13157	0.0319	L	0.34521	1.04	.	.	.	B;B;D;B	0.65815	0.235;0.096;0.995;0.352	B;B;P;B	0.56278	0.041;0.06;0.795;0.077	T	0.12041	-1.0563	9	0.49607	T	0.09	-8.6804	5.1933	0.15223	0.1051:0.0:0.6924:0.2025	.	27;153;86;27	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Q	27;27;153;153;153	ENSP00000375589:P27Q;ENSP00000221722:P27Q;ENSP00000326581:P153Q;ENSP00000403051:P153Q	ENSP00000221722:P27Q	P	-	2	0	ZIM2	62026796	0.047000	0.20315	0.006000	0.13384	0.001000	0.01503	1.388000	0.34442	0.696000	0.31696	-0.894000	0.02916	CCA	.		0.562	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57334984	G	T	57334984	3	4	31	1	0	0	0	0	1	0	0	0	11759	1348	47	3	4338	3	PEG3	19	57334984	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9885	57334984	1793999	2134	7686											
DUXA	503835	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	57672059	57672059	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaaagcaagtttttgtttGgtagcataacctgggtaagg	11	5	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57672059G>T	ENST00000554048.2	-	2	131	c.132C>A	c.(130-132)acC>acA	p.T44T		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GTTTTTGTTTGGTAGCATAAC	0.378																																					p.T44T		.											.	DUXA-91	0			c.C132A						.						154	148	150					19																	57672059		2203	4300	6503	SO:0001819	synonymous_variant	503835	exon2			TTGTTTGGTAGCA		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.132C>A	19.37:g.57672059G>T		Somatic	45	1		WXS	Illumina GAIIx	Phase_I	54	29	NM_001012729	0	0	0	0	0		Silent	SNP	ENST00000554048.2	37	CCDS33126.1																																																																																			.		0.378	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		T	57672059	G	T	57672059	2	4	31	1	0	0	0	0	0	0	0	1	4848	1335	47	3		3	DUXA	19	57672059	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	337075	57672059	1456924	2135	7687											
AURKC	6795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	57746327	57746327	+	Frame_Shift_Del	DEL	G	G	-													agaacatatgatgaaaaggtGgatttgtggtgcattggagt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57746327delG	ENST00000302804.7	+	6	846	c.660delG	c.(658-660)gtgfs	p.V220fs	AURKC_ENST00000415300.2_Frame_Shift_Del_p.V201fs|AURKC_ENST00000599062.1_Frame_Shift_Del_p.V217fs|AURKC_ENST00000448930.1_Frame_Shift_Del_p.V186fs|AURKC_ENST00000598785.1_Frame_Shift_Del_p.V186fs	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ATGAAAAGGTGGATTTGTGGT	0.502																																					p.V220fs		.											.	AURKC-1560	0			c.660delG						.						161	130	141					19																	57746327		2203	4300	6503	SO:0001589	frameshift_variant	6795	exon6			AAAGGTGGATTTG		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.660delG	19.37:g.57746327delG	ENSP00000302898:p.Val220fs	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	137	61	NM_001015878	0	0	0	0	0	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Frame_Shift_Del	DEL	ENST00000302804.7	37	CCDS33128.1																																																																																			.		0.502	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		-	57746327	G	-	57746327	7	5	31	1	0	1	0	1	0	0	0	0	1225	1335	47	0	687	0	AURKC	19	57746327	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	74268	57746327	1382656	2136	7688											
ZNF17	7565	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	57932542	57932542	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagtgcactgagtgtgggaGagtttttagccaaaattccc	12	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57932542G>T	ENST00000601808.1	+	3	1895	c.1682G>T	c.(1681-1683)aGa>aTa	p.R561I	ZNF17_ENST00000307658.7_Missense_Mutation_p.R563I|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAGTGTGGGAGAGTTTTTAGC	0.398																																					p.R561I	Melanoma(149;1637 1853 29914 42869 44988)	.											.	ZNF17-90	0			c.G1682T						.						51	52	51					19																	57932542		2041	4214	6255	SO:0001583	missense	7565	exon3			GTGGGAGAGTTTT	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1682G>T	19.37:g.57932542G>T	ENSP00000471905:p.Arg561Ile	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	68	44	NM_006959	0	0	0	0	0	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344447	0.61073	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.35	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47002	0.1422	L	0.45422	1.42	0.20563	N	0.999886	D;D	0.71674	0.998;0.977	P;P	0.62184	0.899;0.637	T	0.41324	-0.9515	8	0.87932	D	0	.	6.7629	0.23550	0.609:0.0:0.391:0.0	.	563;561	P17021-2;P17021	.;ZNF17_HUMAN	I	561	.	ENSP00000302455:R561I	R	+	2	0	ZNF17	62624354	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.236000	0.17967	-0.650000	0.05423	0.467000	0.42956	AGA	.		0.398	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		T	57932542	G	T	57932542	3	4	31	1	0	0	0	0	1	0	0	0	17791	942	33	3	1692	3	ZNF17	19	57932542	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	186215	57932542	1196441	2137	7689											
ZNF530	348327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	58117486	58117486	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattgagagaccacacagcaGgattagacacttgagagttc	10	9	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58117486G>C	ENST00000332854.6	+	3	813	c.593G>C	c.(592-594)aGg>aCg	p.R198T	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACACAGCAGGATTAGACAC	0.473																																					p.R198T		.											.	ZNF530-90	0			c.G593C						.						92	95	94					19																	58117486		2203	4300	6503	SO:0001583	missense	348327	exon3			ACAGCAGGATTAG	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.593G>C	19.37:g.58117486G>C	ENSP00000332861:p.Arg198Thr	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	95	63	NM_020880	0	0	0	0	0	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	0.166	-1.076619	0.01903	.	.	ENSG00000183647	ENST00000332854	T	0.14893	2.47	1.73	-0.506	0.11989	.	.	.	.	.	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.32161	-0.9917	9	0.45353	T	0.12	.	4.1039	0.10028	0.406:0.0:0.594:0.0	.	198	Q6P9A1	ZN530_HUMAN	T	198	ENSP00000332861:R198T	ENSP00000332861:R198T	R	+	2	0	ZNF530	62809298	0.004000	0.15560	0.004000	0.12327	0.017000	0.09413	0.805000	0.27112	-0.056000	0.13221	-0.346000	0.07831	AGG	.		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		C	58117486	G	C	58117486	3	2	31	1	0	0	0	0	1	0	0	0	18019	1000	35	3	603	3	ZNF530	19	58117486	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	184944	58117486	1011497	2138	7690											
ZNF211	10520	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	58152335	58152335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcagcacattacagagGcacctttcagaagttatgtg	11	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58152335G>A	ENST00000347302.3	+	3	660	c.481G>A	c.(481-483)Gca>Aca	p.A161T	ZNF211_ENST00000254182.7_Missense_Mutation_p.A152T|ZNF211_ENST00000541801.1_Missense_Mutation_p.A152T|ZNF211_ENST00000299871.5_Missense_Mutation_p.A226T|ZNF211_ENST00000420680.1_Missense_Mutation_p.A165T|ZNF211_ENST00000544273.1_Missense_Mutation_p.A173T|ZNF211_ENST00000391703.3_Missense_Mutation_p.A100T|ZNF211_ENST00000240731.4_Missense_Mutation_p.A174T	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	161					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.A174T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTACAGAGGCACCTTTCAG	0.463																																					p.A226T		.											.	ZNF211-92	1	Substitution - Missense(1)	lung(1)	c.G676A						.						105	92	97					19																	58152335		2203	4300	6503	SO:0001583	missense	10520	exon5			ACAGAGGCACCTT	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.481G>A	19.37:g.58152335G>A	ENSP00000339562:p.Ala161Thr	Somatic	167	1		WXS	Illumina GAIIx	Phase_I	119	71	NM_001265597	0	0	0	0	0	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.829632|1.829632	0.32329|0.32329	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.14893|.	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47|.	2.97|2.97	-4.95|-4.95	0.03048|0.03048	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;P;P;B;B|.	0.46220|.	0.119;0.119;0.763;0.874;0.072;0.072|.	B;B;B;B;B;B|.	0.40477|.	0.035;0.025;0.229;0.33;0.015;0.015|.	T|T	0.29941|0.29941	-0.9995|-0.9995	9|5	0.72032|.	D|.	0.01|.	.|.	6.3299|6.3299	0.21264|0.21264	0.5906:0.1248:0.2846:0.0|0.5906:0.1248:0.2846:0.0	.|.	165;173;226;152;161;174|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	T|D	165;161;152;100;152;226;173;174|164	ENSP00000399193:A165T;ENSP00000339562:A161T;ENSP00000254182:A152T;ENSP00000375584:A100T;ENSP00000442601:A152T;ENSP00000299871:A226T;ENSP00000441386:A173T;ENSP00000240731:A174T|.	ENSP00000240731:A174T|.	A|G	+|+	1|2	0|0	ZNF211|ZNF211	62844147|62844147	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	0.287000|0.287000	0.18920|0.18920	-1.236000|-1.236000	0.02542|0.02542	-0.191000|-0.191000	0.12829|0.12829	GCA|GGC	.		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			A	58152335	G	A	58152335	3	1	31	1	0	0	0	0	1	0	0	0	17815	1203	42	3	534	3	ZNF211	19	58152335	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	34849	58152335	976648	2139	7691											
ZNF551	90233	broad.mit.edu;bcgsc.ca	37	chr19	58199642	58199642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacatcggagagttcacactGaagaaaggccttaaatgtga	11	7	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58199642G>A	ENST00000282296.5	+	3	2184	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E651K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTTCACACTGAAGAAAGGCC	0.408																																					p.E667K		.											.	ZNF551-91	0			c.G1999A						.						78	76	77					19																	58199642		2203	4300	6503	SO:0001583	missense	90233	exon3			CACACTGAAGAAA	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1999G>A	19.37:g.58199642G>A	ENSP00000282296:p.Glu667Lys	Somatic	79	2		WXS	Illumina GAIIx	Phase_I	46	21	NM_138347	0	0	0	0	0	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	6.566	0.472749	0.12461	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.46	0.116	0.14647	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	N	0.17594	0.5	0.22787	N	0.998734	B	0.25955	0.138	B	0.25987	0.065	T	0.24512	-1.0158	8	0.62326	D	0.03	.	1.945	0.03355	0.126:0.1991:0.4716:0.2033	.	667	Q7Z340	ZN551_HUMAN	K	667;651	.	ENSP00000282296:E651K	E	+	1	0	ZNF551	62891454	0.000000	0.05858	0.009000	0.14445	0.033000	0.12548	0.483000	0.22292	-0.026000	0.13895	-0.309000	0.09137	GAA	.		0.408	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		A	58199642	G	A	58199642	3	1	31	1	0	0	0	0	1	0	0	0	18031	1291	45	3	1961	3	ZNF551	19	58199642	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	47307	58199642	929341	2140	7692											
A1BG	1	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58864353	58864353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtggacaagcccgagCggcagcggtagcggccctgg	16	13	0	0	rs533605370		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58864353C>T	ENST00000263100.3	-	3	342	c.281G>A	c.(280-282)cGc>cAc	p.R94H	A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	94	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R94H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAAGCCCGAGCGGCAGCGGTA	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15020	0		0	False		,,,				2504	0				p.R94H		.											.	A1BG-90	1	Substitution - Missense(1)	cervix(1)	c.G281A						.						46	53	51					19																	58864353		2203	4300	6503	SO:0001583	missense	1	exon3			CCCGAGCGGCAGC		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.281G>A	19.37:g.58864353C>T	ENSP00000263100:p.Arg94His	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	90	25	NM_130786	0	0	0	0	0	A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989526	0.35131	.	.	ENSG00000121410	ENST00000263100	T	0.14766	2.48	3.52	1.34	0.21922	Immunoglobulin-like fold (1);	0.547744	0.15170	N	0.276722	T	0.17450	0.0419	L	0.47716	1.5	0.23972	N	0.996302	D	0.62365	0.991	P	0.56163	0.793	T	0.14783	-1.0460	10	0.17832	T	0.49	.	6.0556	0.19809	0.0:0.7583:0.0:0.2417	.	94	P04217	A1BG_HUMAN	H	94	ENSP00000263100:R94H	ENSP00000263100:R94H	R	-	2	0	A1BG	63556165	0.025000	0.19082	0.314000	0.25224	0.022000	0.10575	-0.148000	0.10219	0.473000	0.27368	0.563000	0.77884	CGC	.		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		T	58864353	C	T	58864353	3	4	31	1	0	0	0	0	1	0	0	0	1	768	27	1	1230	1	A1BG	19	58864353	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	664711	58864353	264630	2141	7693											
SIRPG	55423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	1610940	1610940	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgaggagcagcgcagtaaggGatgatgccgggcctggaaat	17	7	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:1610940G>C	ENST00000303415.3	-	5	1158	c.1094C>G	c.(1093-1095)tCc>tGc	p.S365C	SIRPG_ENST00000381583.2_Missense_Mutation_p.S254C|SIRPG_ENST00000216927.4_Missense_Mutation_p.S254C|SIRPG_ENST00000381580.1_Missense_Mutation_p.S332C|SIRPG_ENST00000344103.4_Missense_Mutation_p.S148C|SIRPG_ENST00000478145.2_5'UTR	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	365					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CGCAGTAAGGGATGATGCCGG	0.582																																					p.S365C		.											.	SIRPG-23	0			c.C1094G						.						55	55	55					20																	1610940		2199	4298	6497	SO:0001583	missense	55423	exon5			GTAAGGGATGATG	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1094C>G	20.37:g.1610940G>C	ENSP00000305529:p.Ser365Cys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	40	12	NM_018556	0	0	0	0	0	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778814	0.31502	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.12147	3.12;4.41;2.71;5.04;5.04	2.25	1.16	0.20824	.	3.641900	0.01463	N	0.015977	T	0.16642	0.0400	N	0.14661	0.345	0.09310	N	1	D;D;B	0.61697	0.99;0.99;0.41	P;P;B	0.57548	0.476;0.823;0.146	T	0.14254	-1.0479	10	0.66056	D	0.02	.	3.938	0.09314	0.267:0.0:0.733:0.0	.	148;254;365	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	C	332;148;365;254;254	ENSP00000370992:S332C;ENSP00000342759:S148C;ENSP00000305529:S365C;ENSP00000370995:S254C;ENSP00000216927:S254C	ENSP00000216927:S254C	S	-	2	0	SIRPG	1558940	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.254000	0.08781	0.409000	0.25649	0.436000	0.28706	TCC	.		0.582	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		C	1610940	G	C	1610940	3	2	31	1	0	0	0	0	1	0	0	0	14381	1174	41	3	73	3	SIRPG	20	1610940	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		1610940	61414580	2142	7694											
TGM6	343641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	2398147	2398147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctgagcggtgccaccAtcctctatacccgcaagcca	7	17	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:2398147A>G	ENST00000202625.2	+	10	1667	c.1606A>G	c.(1606-1608)Atc>Gtc	p.I536V	TGM6_ENST00000381423.1_Missense_Mutation_p.I536V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	536					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGGTGCCACCATCCTCTATAC	0.632																																					p.I536V		.											.	TGM6-94	0			c.A1606G						.						27	28	27					20																	2398147		2203	4300	6503	SO:0001583	missense	343641	exon10			GCCACCATCCTCT	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1606A>G	20.37:g.2398147A>G	ENSP00000202625:p.Ile536Val	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	40	11	NM_198994	0	0	0	0	0	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323299	0.60634	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.61158	0.13;0.13	4.93	4.93	0.64822	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.135026	0.51477	D	0.000088	T	0.54967	0.1891	M	0.70842	2.15	0.28956	N	0.89014	P;P	0.37612	0.547;0.602	B;B	0.37989	0.262;0.25	T	0.55490	-0.8133	10	0.27082	T	0.32	-31.9971	10.9086	0.47094	1.0:0.0:0.0:0.0	.	536;536	O95932-2;O95932	.;TGM3L_HUMAN	V	536	ENSP00000202625:I536V;ENSP00000370831:I536V	ENSP00000202625:I536V	I	+	1	0	TGM6	2346147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.509000	0.53386	2.092000	0.63282	0.533000	0.62120	ATC	.		0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2398147	A	G	2398147	3	3	31	1	0	0	0	0	1	0	0	0	15881	217	8	4	1644	4	TGM6	20	2398147	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	787207	2398147	60627373	2143	7695											
TMC2	117532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2542507	2542507	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggctctgcctccaggtcAtcctccttggcctccagtgc	9	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:2542507A>T	ENST00000358864.1	+	4	420	c.405A>T	c.(403-405)tcA>tcT	p.S135S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	135	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCCAGGTCATCCTCCTTGG	0.602																																					p.S135S		.											.	TMC2-93	0			c.A405T						.						76	69	71					20																	2542507		2203	4300	6503	SO:0001819	synonymous_variant	117532	exon4			CAGGTCATCCTCC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.405A>T	20.37:g.2542507A>T		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	120	26	NM_080751	0	0	0	0	0	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																			.		0.602	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2542507	A	T	2542507	2	4	31	1	0	0	0	0	0	0	0	1	16032	204	8	5		5	TMC2	20	2542507	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	144360	2542507	60483013	2144	7696											
PTPRA	5786	broad.mit.edu	37	chr20	3008372	3008372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gggctaccggcagaaggactCctatatcgccagccagggcc	13	14	0	1	rs138028158		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3008372C>G	ENST00000216877.6	+	19	2178	c.1778C>G	c.(1777-1779)tCc>tGc	p.S593C	PTPRA_ENST00000358719.4_Missense_Mutation_p.S458C|PTPRA_ENST00000318266.5_Missense_Mutation_p.S593C|PTPRA_ENST00000380393.3_Missense_Mutation_p.S602C|PTPRA_ENST00000425918.2_Missense_Mutation_p.S613C|PTPRA_ENST00000399903.2_Missense_Mutation_p.S602C|PTPRA_ENST00000356147.3_Missense_Mutation_p.S593C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	602	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						CAGAAGGACTCCTATATCGCC	0.517													C|||	1	0.000199681	0	0	5008	,	,		20358	0		0.001	False		,,,				2504	0				p.S602C		.											.	PTPRA-227	0			c.C1805G						.	C	CYS/SER,CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	90	81	84		1805,1778,1778	5.6	1	20	dbSNP_134	84	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	112,112,112	0,7,6496	GG,GC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging,probably-damaging	602/803,593/794,593/794	3008372	7,12999	2203	4300	6503	SO:0001583	missense	5786	exon24			AGGACTCCTATAT		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.1778C>G	20.37:g.3008372C>G	ENSP00000216877:p.Ser593Cys	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	98	4	NM_002836	0	0	0	0	0	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.2	4.986657	0.93106	2.27E-4	6.98E-4	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.066104	0.64402	U	0.000006	D	0.88592	0.6478	L	0.33293	1	0.80722	D	1	P;D;D	0.76494	0.49;0.999;0.98	B;D;P	0.64776	0.195;0.929;0.871	D	0.89383	0.3683	10	0.66056	D	0.02	.	19.5689	0.95404	0.0:1.0:0.0:0.0	.	613;602;593	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	C	602;593;602;458;212;613;593;593	ENSP00000369756:S602C;ENSP00000216877:S593C;ENSP00000382787:S602C;ENSP00000351559:S458C;ENSP00000393553:S613C;ENSP00000314568:S593C;ENSP00000348468:S593C	ENSP00000216877:S593C	S	+	2	0	PTPRA	2956372	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.965000	0.70387	2.626000	0.88956	0.655000	0.94253	TCC	C|0.999;G|0.001		0.517	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	3008372	C	G	3008372	3	3	31	1	0	0	0	0	1	0	0	0	12840	855	30	3	1871	3	PTPRA	20	3008372	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	465865	3008372	60017148	2145	7697											
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3218585	3218585	+	5'Flank	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaccctgccccgctgcAgcgagaggaagggaccgggc	15	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3218585A>T	ENST00000380056.3	-	0	0				SLC4A11_ENST00000539553.2_Intron|SLC4A11_ENST00000380059.3_Silent_p.A42A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11						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						GCCCCGCTGCAGCGAGAGGAA	0.612																																					p.A42A	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.T126A						.																																			SO:0001631	upstream_gene_variant	83959	exon1			CGCTGCAGCGAGA	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		20.37:g.3218585A>T	Exception_encountered	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	54	17	NM_001174090	0	0	0	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			.		0.612	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3218585	A	T	3218585	1	4	31	0	1	0	0	0	0	0	0	0	14697	175	7	5		5	SLC4A11	20	3218585	5'Flank	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	210213	3218585	59806935	2146	7698											
ATRN	8455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3624815	3624815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagactgttcccaaaccCattgcactggagccgtgttt	9	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3624815C>T	ENST00000262919.5	+	28	4133	c.4065C>T	c.(4063-4065)ccC>ccT	p.P1355P		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1355					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCCCAAACCCATTGCACTGG	0.483																																					p.P1355P		.											.	ATRN-154	0			c.C4065T						.						129	111	117					20																	3624815		2203	4300	6503	SO:0001819	synonymous_variant	8455	exon28			CAAACCCATTGCA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4065C>T	20.37:g.3624815C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	78	25	NM_139321	0	0	0	0	0	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	CCDS13053.1																																																																																			.		0.483	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		T	3624815	C	T	3624815	2	4	31	1	0	0	0	0	0	0	0	1	1207	581	21	3		3	ATRN	20	3624815	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	406230	3624815	59400705	2147	7699											
PROKR2	128674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	5283022	5283022	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacatgagcaccaggacCgtcttcctgcggcagcgcag	12	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5283022C>A	ENST00000217270.3	-	2	818	c.819G>T	c.(817-819)acG>acT	p.T273T	PROKR2_ENST00000546004.1_Silent_p.T273T	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	273					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GCACCAGGACCGTCTTCCTGC	0.597										HNSCC(71;0.22)																											p.T273T		.											.	PROKR2-94	0			c.G819T						.						74	61	65					20																	5283022		2203	4300	6503	SO:0001819	synonymous_variant	128674	exon2			CAGGACCGTCTTC	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.819G>T	20.37:g.5283022C>A		Somatic	167	0		WXS	Illumina GAIIx	Phase_I	132	42	NM_144773	0	0	0	0	0	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	CCDS13089.1																																																																																			.		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5283022	C	A	5283022	2	1	31	1	0	0	0	0	0	0	0	1	12595	639	23	2		2	PROKR2	20	5283022	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1658207	5283022	57742498	2148	7700											
CHGB	1114	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	5903995	5903995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagatggcacatggatatgGtgaagaaagtgaggaagaga	15	2	0	5	rs200027232		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5903995G>T	ENST00000378961.4	+	4	1409	c.1205G>T	c.(1204-1206)gGt>gTt	p.G402V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	402						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						CATGGATATGGTGAAGAAAGT	0.537																																					p.G402V		.											.	CHGB-96	0			c.G1205T						.						102	101	101					20																	5903995		2203	4300	6503	SO:0001583	missense	1114	exon4			GATATGGTGAAGA		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.1205G>T	20.37:g.5903995G>T	ENSP00000368244:p.Gly402Val	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	21	5	NM_001819	0	0	0	0	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	9.451	1.090613	0.20471	.	.	ENSG00000089199	ENST00000378961	T	0.01725	4.67	5.66	1.14	0.20703	.	0.820525	0.11384	N	0.569564	T	0.02455	0.0075	L	0.39898	1.24	0.09310	N	0.999997	P	0.44946	0.846	P	0.46629	0.522	T	0.47799	-0.9089	10	0.49607	T	0.09	-0.0026	4.6782	0.12722	0.3551:0.0:0.5072:0.1377	.	402	P05060	SCG1_HUMAN	V	402	ENSP00000368244:G402V	ENSP00000368244:G402V	G	+	2	0	CHGB	5851995	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.004000	0.13106	0.228000	0.21019	-0.345000	0.07892	GGT	G|0.999;A|0.001		0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903995	G	T	5903995	3	4	31	1	0	0	0	0	1	0	0	0	3346	1261	44	3	1219	3	CHGB	20	5903995	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	620973	5903995	57121525	2149	7701											
CHGB	1114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	5904314	5904315	+	Missense_Mutation	DNP	CC	CC	AA													caagataaacaatatagctcCcatcacacagctgaaaagag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5904314_5904315CC>AA	ENST00000378961.4	+	4	1728_1729	c.1524_1525CC>AA	c.(1522-1527)tcCCat>tcAAat	p.H509N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	509						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						AATATAGCTCCCATCACACAGC	0.485																																					p.H509N		.											.	CHGB-96	0			c.C1525A						.																																			SO:0001583	missense	1114	exon4			AGCTCCCATCACA		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	Exception_encountered	20.37:g.5904314_5904315delinsAA	ENSP00000368244:p.His509Asn	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	90	3	NM_001819	0	0	0	0	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	DNP	ENST00000378961.4	37	CCDS13092.1																																																																																			.		0.485	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		AA	5904315	CC	AA	5904314	3	1	31	1	0	0	0	0	1	0	0	0	3346	610	22	3	1538	3	CHGB	20	5904314	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	319	5904314	57121206	2150	7702											
HAO1	54363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	7875859	7875859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatgtttaacagcctccCtggcatcatcacctggagag	9	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:7875859C>A	ENST00000378789.3	-	5	785	c.734G>T	c.(733-735)aGg>aTg	p.R245M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	245	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						AACAGCCTCCCTGGCATCATC	0.502																																					p.R245M		.											.	HAO1-93	0			c.G734T						.						116	106	110					20																	7875859		2203	4300	6503	SO:0001583	missense	54363	exon5			GCCTCCCTGGCAT	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.734G>T	20.37:g.7875859C>A	ENSP00000368066:p.Arg245Met	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	68	17	NM_017545	0	0	0	0	0	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153976	0.38021	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.97	-4.71	0.03279	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.698276	0.15826	N	0.242725	T	0.28433	0.0703	M	0.71871	2.18	0.09310	N	0.999998	B;B	0.10296	0.003;0.003	B;B	0.19666	0.026;0.026	T	0.20907	-1.0261	10	0.49607	T	0.09	-2.5709	10.1596	0.42844	0.0969:0.2962:0.0:0.6069	.	245;245	A8K058;Q9UJM8	.;HAOX1_HUMAN	M	245	ENSP00000368066:R245M	ENSP00000368066:R245M	R	-	2	0	HAO1	7823859	0.000000	0.05858	0.445000	0.26908	0.957000	0.61999	-0.895000	0.04118	-1.308000	0.02318	-0.126000	0.14955	AGG	.		0.502	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			A	7875859	C	A	7875859	3	1	31	1	0	0	0	0	1	0	0	0	6978	681	24	3	394	3	HAO1	20	7875859	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1971545	7875859	55149661	2151	7703											
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	8770166	8770166	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcatcatttgcttttaggGagaagacagagatgatccgg	11	6	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:8770166G>T	ENST00000338037.6	+	30	3307	c.3280G>T	c.(3280-3282)Gag>Tag	p.E1094*	PLCB1_ENST00000378637.2_Splice_Site_p.E1094*|PLCB1_ENST00000378641.3_Splice_Site_p.E1094*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1094					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						TGCTTTTAGGGAGAAGACAGA	0.393																																					p.G1094C		.											.	PLCB1-297	0			c.G3280T						.						209	185	193					20																	8770166		2203	4300	6503	SO:0001630	splice_region_variant	23236	exon30			TTTAGGGAGAAGA	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.3279-1G>T	20.37:g.8770166G>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	91	35	NM_015192	0	0	0	0	0	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	46	12.759876	0.99694	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.73	5.73	0.89815	.	0.104140	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	1094;1094;1094;1014;1014	.	ENSP00000338185:E1094X	E	+	1	0	PLCB1	8718166	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.184000	0.94893	2.861000	0.98227	0.655000	0.94253	GAG	.		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Nonsense_Mutation	T	8770166	G	T	8770166	5	4	31	1	0	0	0	0	0	0	1	0	12066	1188	41	3	3398	3	PLCB1	20	8770166	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	894307	8770166	54255354	2152	7704											
PLCB4	5332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	9417684	9417684	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagtgacacttccaaAaatgacaagaaaggaaaggc	10	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9417684A>G	ENST00000378493.1	+	26	2628	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	PLCB4_ENST00000334005.3_Silent_p.K871K|PLCB4_ENST00000414679.2_Silent_p.K883K|PLCB4_ENST00000278655.4_Silent_p.K871K|PLCB4_ENST00000378501.2_Silent_p.K871K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.K883K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	871					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACACTTCCAAAAATGACAAGA	0.488																																					p.K883K		.											.	PLCB4-274	0			c.A2649G						.						84	72	76					20																	9417684		2203	4300	6503	SO:0001819	synonymous_variant	5332	exon29			TTCCAAAAATGAC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2613A>G	20.37:g.9417684A>G		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	85	24	NM_001172646	0	0	0	0	0	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																			.		0.488	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			G	9417684	A	G	9417684	2	3	31	1	0	0	0	0	0	0	0	1	12069	11	1	4		4	PLCB4	20	9417684	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	647518	9417684	53607836	2153	7705											
C20orf103	24141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	9510300	9510301	+	Missense_Mutation	DNP	CC	CC	AA													ccattgcagagcataaatgcCcagtggatgagcgggagcaa					rs111239272		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9510300_9510301CC>AA	ENST00000246070.2	+	6	1168_1169	c.676_677CC>AA	c.(676-678)CCa>AAa	p.P226K	LAMP5_ENST00000427562.2_Missense_Mutation_p.P182K	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	226						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											GCATAAATGCCCAGTGGATGAG	0.465																																					p.P226K		.											.	.	0			c.C677A						.																																			SO:0001583	missense	24141	exon6			AATGCCCAGTGGA	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	Exception_encountered	20.37:g.9510300_9510301delinsAA	ENSP00000246070:p.Pro226Lys	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	72	2	NM_012261	0	0	0	0	0	B4DHZ7|B7Z9Z9	Missense_Mutation	DNP	ENST00000246070.2	37	CCDS13106.1																																																																																			C|0.500;T|0.500		0.465	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		AA	9510301	CC	AA	9510300	3	1	31	1	0	0	0	0	1	0	0	0	2082	623	22	3	698	3	C20orf103	20	9510300	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	92616	9510300	53515220	2154	7706											
PAK7	57144	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	9543657	9543657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattgtcatggtggtaatcCcgcatgatcacgacctgggg	12	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9543657C>A	ENST00000378429.3	-	7	2043	c.1497G>T	c.(1495-1497)cgG>cgT	p.R499R	PAK7_ENST00000353224.5_Silent_p.R499R|PAK7_ENST00000378423.1_Silent_p.R499R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGTGGTAATCCCGCATGATCA	0.458																																					p.R499R		.											.	PAK7-1434	0			c.G1497T						.						183	166	171					20																	9543657		2203	4300	6503	SO:0001819	synonymous_variant	57144	exon6			GTAATCCCGCATG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1497G>T	20.37:g.9543657C>A		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	107	32	NM_177990	0	0	0	0	0	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																			.		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9543657	C	A	9543657	2	1	31	1	0	0	0	0	0	0	0	1	11444	610	22	3		3	PAK7	20	9543657	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	33357	9543657	53481863	2155	7707											
ESF1	51575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	13752040	13752040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcctcataaattttaCtagctgtttccggagaatca	5	10	2	1	rs376170071		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:13752040C>T	ENST00000202816.1	-	6	1447	c.1340G>A	c.(1339-1341)aGt>aAt	p.S447N		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATAAATTTTACTAGCTGTTTC	0.343																																					p.S447N		.											.	ESF1-91	0			c.G1340A						.						140	150	146					20																	13752040		2203	4297	6500	SO:0001583	missense	51575	exon6			ATTTTACTAGCTG		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1340G>A	20.37:g.13752040C>T	ENSP00000202816:p.Ser447Asn	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	71	14	NM_001276380	0	0	0	0	0	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	2.108	-0.404495	0.04832	.	.	ENSG00000089048	ENST00000202816	T	0.39787	1.06	5.33	3.35	0.38373	.	0.551778	0.22166	N	0.063710	T	0.15003	0.0362	N	0.04148	-0.265	0.30259	N	0.793325	P	0.36282	0.546	B	0.32980	0.156	T	0.17745	-1.0359	10	0.08179	T	0.78	0.6564	5.7425	0.18102	0.0:0.4794:0.3519:0.1687	.	447	Q9H501	ESF1_HUMAN	N	447	ENSP00000202816:S447N	ENSP00000202816:S447N	S	-	2	0	ESF1	13700040	0.950000	0.32346	0.935000	0.37517	0.995000	0.86356	1.049000	0.30392	0.698000	0.31739	0.655000	0.94253	AGT	.		0.343	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13752040	C	T	13752040	3	4	31	1	0	0	0	0	1	0	0	0	5267	565	20	3	1251	3	ESF1	20	13752040	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4208383	13752040	49273480	2156	7708											
RRBP1	6238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	17617312	17617312	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatctcctgctcccgggcCaccagctgctttttcacttt	8	15	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:17617312C>A	ENST00000377813.1	-	6	2550	c.2247G>T	c.(2245-2247)gtG>gtT	p.V749V	RRBP1_ENST00000360807.4_Silent_p.V316V|RRBP1_ENST00000455029.2_Silent_p.V90V|RRBP1_ENST00000246043.4_Silent_p.V749V|RRBP1_ENST00000377807.2_Silent_p.V316V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	749					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTCCCGGGCCACCAGCTGCT	0.627																																					p.V316V		.											.	RRBP1-92	0			c.G948T						.						81	78	79					20																	17617312		2203	4300	6503	SO:0001819	synonymous_variant	6238	exon6			CCGGGCCACCAGC	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2247G>T	20.37:g.17617312C>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	81	20	NM_004587	0	0	0	0	0	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																				.		0.627	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		A	17617312	C	A	17617312	2	1	31	1	0	0	0	0	0	0	0	1	13723	581	21	3		3	RRBP1	20	17617312	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3865272	17617312	45408208	2157	7709											
C20orf12	55184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	18434400	18434400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aactttctaaggttaacattCcagctgcgttgattttcaga	7	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:18434400C>A	ENST00000358866.6	-	4	472	c.450G>T	c.(448-450)tgG>tgT	p.W150C	DZANK1_ENST00000262547.5_Missense_Mutation_p.W150C|DZANK1_ENST00000329494.5_Missense_Mutation_p.W152C|DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	150							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTTAACATTCCAGCTGCGTT	0.358																																					p.W150C		.											.	.	0			c.G450T						.						157	147	150					20																	18434400		1844	4088	5932	SO:0001583	missense	55184	exon5			AACATTCCAGCTG	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.450G>T	20.37:g.18434400C>A	ENSP00000351734:p.Trp150Cys	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	48	11	NM_001099407	0	0	0	0	0	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	1.700	-0.501764	0.04261	.	.	ENSG00000089091	ENST00000262547;ENST00000329494	T;T	0.64260	-0.09;0.58	5.31	3.07	0.35406	.	0.835035	0.10638	U	0.651354	T	0.56920	0.2018	M	0.62723	1.935	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.11329	0.006;0.003	T	0.54951	-0.8216	10	0.39692	T	0.17	-0.2683	7.4697	0.27342	0.3978:0.4553:0.147:0.0	.	150;150	B7Z631;Q9NVP4	.;DZAN1_HUMAN	C	150;152	ENSP00000262547:W150C;ENSP00000328866:W152C	ENSP00000262547:W150C	W	-	3	0	C20orf12	18382400	0.993000	0.37304	0.999000	0.59377	0.073000	0.16967	0.680000	0.25306	1.361000	0.45981	-0.181000	0.13052	TGG	.		0.358	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		A	18434400	C	A	18434400	3	1	31	1	0	0	0	0	1	0	0	0	2092	856	30	3	1876	3	C20orf12	20	18434400	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	817088	18434400	44591120	2158	7710											
RALGAPA2	57186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	20501596	20501596	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaggttacccaattctgctGatgaatgatactggactggc	11	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:20501596G>A	ENST00000202677.7	-	31	4056	c.4049C>T	c.(4048-4050)tCa>tTa	p.S1350L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1350					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAATTCTGCTGATGAATGATA	0.468																																					p.S1350L		.											.	RALGAPA2-24	0			c.C4049T						.						94	90	91					20																	20501596		1910	4129	6039	SO:0001583	missense	57186	exon31			TCTGCTGATGAAT	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4049C>T	20.37:g.20501596G>A	ENSP00000202677:p.Ser1350Leu	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	95	24	NM_020343	0	0	0	0	0	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.97|12.97	2.098726|2.098726	0.37048|0.37048	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.27402	.|1.67	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.480260	.|0.22055	.|N	.|0.065260	.|T	.|0.35307	.|0.0927	M|M	0.65498|0.65498	2.005|2.005	0.36151|0.36151	D|D	0.847444|0.847444	.|B;P;B	.|0.38827	.|0.116;0.649;0.013	.|B;B;B	.|0.29716	.|0.062;0.106;0.011	.|T	.|0.47861	.|-0.9084	.|10	.|0.62326	.|D	.|0.03	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1188;1350;1350	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	X|L	1167|1350	.|ENSP00000202677:S1350L	.|ENSP00000202677:S1350L	Q|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20449596|20449596	0.923000|0.923000	0.31300|0.31300	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	3.022000|3.022000	0.49659|0.49659	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	.		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		A	20501596	G	A	20501596	3	1	31	1	0	0	0	0	1	0	0	0	13059	1294	45	3	1608	3	RALGAPA2	20	20501596	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2067196	20501596	42523924	2159	7711											
FOXA2	3170	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	22563160	22563160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgagtcagggtgcagGgtccagaaggagcccttgcc	15	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:22563160G>A	ENST00000377115.4	-	3	883	c.702C>T	c.(700-702)acC>acT	p.T234T	FOXA2_ENST00000419308.2_Silent_p.T240T	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	234					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)					CAGGGTGCAGGGTCCAGAAGG	0.642																																					p.T240T		.											.	FOXA2-228	0			c.C720T						.						27	30	29					20																	22563160		2203	4300	6503	SO:0001819	synonymous_variant	3170	exon2			GTGCAGGGTCCAG	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.702C>T	20.37:g.22563160G>A		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	88	48	NM_021784	0	0	0	0	0	Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	CCDS13147.1																																																																																			.		0.642	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			A	22563160	G	A	22563160	2	1	31	1	0	0	0	0	0	0	0	1	6012	1219	43	3		3	FOXA2	20	22563160	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2061564	22563160	40462360	2160	7712											
CD93	22918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	23065618	23065618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagcagtgaaatgagccAtctgtgttggtgcagccctg	14	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23065618A>G	ENST00000246006.4	-	1	1359	c.1212T>C	c.(1210-1212)gaT>gaC	p.D404D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	404	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAATGAGCCATCTGTGTTGG	0.667																																					p.D404D		.											.	CD93-153	0			c.T1212C						.						46	44	45					20																	23065618		2203	4300	6503	SO:0001819	synonymous_variant	22918	exon1			TGAGCCATCTGTG	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1212T>C	20.37:g.23065618A>G		Somatic	237	0		WXS	Illumina GAIIx	Phase_I	224	101	NM_012072	0	0	0	0	0	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																			.		0.667	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		G	23065618	A	G	23065618	2	3	31	1	0	0	0	0	0	0	0	1	3054	214	8	4		4	CD93	20	23065618	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	502458	23065618	39959902	2161	7713											
CST8	10047	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	23472348	23472348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcctcctcaccattcCcctggccctggtggccagga	9	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23472348C>T	ENST00000246012.1	+	2	401	c.44C>T	c.(43-45)cCc>cTc	p.P15L		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	15					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTCACCATTCCCCTGGCCCTG	0.572																																					p.P15L		.											.	CST8-90	0			c.C44T						.						112	108	109					20																	23472348		2203	4300	6503	SO:0001583	missense	10047	exon2			CCATTCCCCTGGC	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.44C>T	20.37:g.23472348C>T	ENSP00000246012:p.Pro15Leu	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	147	73	NM_005492	0	0	0	0	0	Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309091	0.01342	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.09445	2.98;3.25	3.99	-0.672	0.11377	.	1.171370	0.06067	N	0.659432	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.10902	T	0.67	-0.14	3.0295	0.06102	0.1994:0.2326:0.0:0.568	.	15	O60676	CST8_HUMAN	L	15	ENSP00000399144:P15L;ENSP00000246012:P15L	ENSP00000246012:P15L	P	+	2	0	CST8	23420348	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.305000	0.08188	-0.117000	0.11872	0.655000	0.94253	CCC	.		0.572	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			T	23472348	C	T	23472348	3	4	31	1	0	0	0	0	1	0	0	0	3987	623	22	3	46	3	CST8	20	23472348	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	406730	23472348	39553172	2162	7714											
CST8	10047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	23472361	23472361	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accattcccctggccctggtGgccaggaaagacccaaaaaa	9	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23472361G>T	ENST00000246012.1	+	2	414	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	19					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGCCCTGGTGGCCAGGAAAG	0.562																																					p.V19V		.											.	CST8-90	0			c.G57T						.						109	108	108					20																	23472361		2203	4300	6503	SO:0001819	synonymous_variant	10047	exon2			CCTGGTGGCCAGG	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.57G>T	20.37:g.23472361G>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	164	43	NM_005492	0	0	0	0	0	Q2M2X6	Silent	SNP	ENST00000246012.1	37	CCDS13156.1																																																																																			.		0.562	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			T	23472361	G	T	23472361	2	4	31	1	0	0	0	0	0	0	0	1	3987	1335	47	3		3	CST8	20	23472361	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	13	23472361	39553159	2163	7715											
CST9	128822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	23584212	23584212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaccacaccccatgcAgcatccacagctgtggacct	7	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23584212A>G	ENST00000376971.3	-	2	426	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	139						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CACCCCATGCAGCATCCACAG	0.542																																					p.C139R		.											.	CST9-91	0			c.T415C						.						157	123	135					20																	23584212		2203	4300	6503	SO:0001583	missense	128822	exon2			CCATGCAGCATCC	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.415T>C	20.37:g.23584212A>G	ENSP00000366170:p.Cys139Arg	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	216	45	NM_001008693	0	0	0	0	0	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031877	0.07543	.	.	ENSG00000173335	ENST00000376971	D	0.99884	-7.49	2.38	-4.1	0.03940	.	2.481150	0.01906	N	0.039508	D	0.98676	0.9556	N	0.08118	0	0.09310	N	1	B	0.24920	0.114	B	0.27076	0.076	D	0.99998	1.6367	10	0.52906	T	0.07	.	0.323	0.00306	0.2943:0.1923:0.1347:0.3787	.	139	Q5W186	CST9_HUMAN	R	139	ENSP00000366170:C139R	ENSP00000366170:C139R	C	-	1	0	CST9	23532212	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.201000	0.09464	-1.024000	0.03338	0.454000	0.30748	TGC	.		0.542	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		G	23584212	A	G	23584212	3	3	31	1	0	0	0	0	1	0	0	0	3988	188	7	4	68	4	CST9	20	23584212	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	111851	23584212	39441308	2164	7716											
BCL2L1	598	broad.mit.edu;bcgsc.ca	37	chr20	30309465	30309465	+	Frame_Shift_Del	DEL	C	C	-													gcttggttcttacccagccgCcgttctcctggatccaaggc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:30309465delC	ENST00000307677.4	-	2	967	c.557delG	c.(556-558)ggcfs	p.G187fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.G187fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.G187fs|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	187					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TACCCAGCCGCCGTTCTCCTG	0.527																																					p.G186fs	Colon(51;693 1004 1401 20431 21026)	.											.	BCL2L1-1084	0			c.557delG						.						94	91	92					20																	30309465		2203	4300	6503	SO:0001589	frameshift_variant	598	exon2			CAGCCGCCGTTCT	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.557delG	20.37:g.30309465delC	ENSP00000302564:p.Gly187fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	77	11	NM_138578	0	0	0	0	0	E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	CCDS13189.1																																																																																			.		0.527	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		-	30309465	C	-	30309465	7	5	31	1	0	1	0	1	0	0	0	0	1368	739	26	0	152	0	BCL2L1	20	30309465	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	6725253	30309465	32716055	2165	7717											
BPIL3	128859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	31631832	31631832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgccagaatgccctgatGctggacttgaagctgggctg	13	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:31631832G>T	ENST00000349552.1	+	15	1341	c.1341G>T	c.(1339-1341)atG>atT	p.M447I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	447						extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATGCCCTGATGCTGGACTTGA	0.597																																					p.M447I		.											.	.	0			c.G1341T						.						207	177	187					20																	31631832		2203	4300	6503	SO:0001583	missense	128859	exon15			CCTGATGCTGGAC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1341G>T	20.37:g.31631832G>T	ENSP00000344929:p.Met447Ile	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	88	17	NM_174897	0	0	0	0	0		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485167	0.26598	.	.	ENSG00000167104	ENST00000349552	T	0.06294	3.32	4.92	1.72	0.24424	.	0.435513	0.19015	N	0.124978	T	0.03305	0.0096	N	0.08118	0	0.24437	N	0.994541	B	0.17465	0.022	B	0.13407	0.009	T	0.39165	-0.9627	10	0.56958	D	0.05	.	7.2447	0.26115	0.0904:0.325:0.5846:0.0	.	447	Q8NFQ5	BPIB6_HUMAN	I	447	ENSP00000344929:M447I	ENSP00000344929:M447I	M	+	3	0	BPIFB6	31095493	0.974000	0.33945	0.991000	0.47740	0.542000	0.35054	0.449000	0.21744	0.301000	0.22738	0.655000	0.94253	ATG	.		0.597	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		T	31631832	G	T	31631832	3	4	31	1	0	0	0	0	1	0	0	0	1497	1319	46	3	1399	3	BPIL3	20	31631832	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1322367	31631832	31393688	2166	7718											
CDK5RAP1	51654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	31967333	31967333	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttcaggatctactctggaGacctgatccagaagatgagc	10	9	3	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:31967333G>C	ENST00000357886.4	-	9	1236	c.1083C>G	c.(1081-1083)gtC>gtG	p.V361V	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.V347V|CDK5RAP1_ENST00000544843.1_Silent_p.V347V|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000473997.1_Silent_p.V257V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	361					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTACTCTGGAGACCTGATCCA	0.468																																					p.V347V		.											.	CDK5RAP1-230	0			c.C1041G						.						96	98	97					20																	31967333		2203	4300	6503	SO:0001819	synonymous_variant	51654	exon8			TCTGGAGACCTGA	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1083C>G	20.37:g.31967333G>C		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	131	17	NM_016408	0	0	0	0	0	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37																																																																																				.		0.468	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		C	31967333	G	C	31967333	2	2	31	1	0	0	0	0	0	0	0	1	3152	929	33	3		3	CDK5RAP1	20	31967333	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	335501	31967333	31058187	2167	7719											
PIGU	128869	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	33169461	33169461	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgatctggataaacatgaaGaagatggggtgctccctggg	15	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:33169461G>T	ENST00000374820.2	-	9	902	c.882C>A	c.(880-882)ttC>ttA	p.F294L	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Missense_Mutation_p.F314L			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	314					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAAACATGAAGAAGATGGGGT	0.562																																					p.F314L		.											.	PIGU-226	0			c.C942A						.						66	48	54					20																	33169461		2203	4300	6503	SO:0001583	missense	128869	exon10			CATGAAGAAGATG	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.882C>A	20.37:g.33169461G>T	ENSP00000363953:p.Phe294Leu	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	134	9	NM_080476	0	0	0	0	0	Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.972884	0.74246	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740;ENST00000438215	.	.	.	6.04	5.1	0.69264	.	0.050677	0.85682	D	0.000000	T	0.52964	0.1767	L	0.39467	1.215	0.80722	D	1	P;B;B	0.38617	0.64;0.356;0.409	B;B;B	0.42386	0.386;0.197;0.298	T	0.47381	-0.9122	9	0.21014	T	0.42	-21.7929	15.3229	0.74135	0.0666:0.0:0.9334:0.0	.	314;294;314	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	L	314;294;314;60	.	ENSP00000217446:F314L	F	-	3	2	PIGU	32633122	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.570000	0.67398	1.573000	0.49748	0.563000	0.77884	TTC	.		0.562	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		T	33169461	G	T	33169461	3	4	31	1	0	0	0	0	1	0	0	0	11939	933	33	3	377	3	PIGU	20	33169461	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1202128	33169461	29856059	2168	7720											
ACSS2	55902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	33508448	33508448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcacggcagacattgGttggatcactggtcattcct	12	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:33508448G>T	ENST00000360596.2	+	9	1290	c.1079G>T	c.(1078-1080)gGt>gTt	p.G360V	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.G310V|ACSS2_ENST00000253382.5_Missense_Mutation_p.G373V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	360					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)	GCAGACATTGGTTGGATCACT	0.537																																					p.G373V		.											.	ACSS2-226	0			c.G1118T						.						203	156	172					20																	33508448		2203	4300	6503	SO:0001583	missense	55902	exon10			ACATTGGTTGGAT	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.1079G>T	20.37:g.33508448G>T	ENSP00000353804:p.Gly360Val	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	105	42	NM_001076552	0	0	0	0	0	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478374	0.84747	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41065	1.01;1.01;1.01	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86894	0.2050	10	0.87932	D	0	-10.6635	18.898	0.92432	0.0:0.0:1.0:0.0	.	373;360	Q5QPH3;Q9NR19	.;ACSA_HUMAN	V	310;360;358;68;373	ENSP00000337190:G310V;ENSP00000353804:G360V;ENSP00000253382:G373V	ENSP00000253382:G373V	G	+	2	0	ACSS2	32972109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.704000	0.92352	0.561000	0.74099	GGT	.		0.537	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		T	33508448	G	T	33508448	3	4	31	1	0	0	0	0	1	0	0	0	189	1261	44	3	1156	3	ACSS2	20	33508448	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	338987	33508448	29517072	2169	7721											
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34090551	34090551	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggaactggagaagcaacggGaaatgcagaaggctgctttg	15	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34090551G>T	ENST00000397527.1	+	30	5074	c.4354G>T	c.(4354-4356)Gaa>Taa	p.E1452*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E1396*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1452	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)			GAAGCAACGGGAAATGCAGAA	0.512																																					p.E1452X		.											.	CEP250-27	0			c.G4354T						.						55	60	59					20																	34090551		2203	4300	6503	SO:0001587	stop_gained	11190	exon30			CAACGGGAAATGC	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.4354G>T	20.37:g.34090551G>T	ENSP00000380661:p.Glu1452*	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	149	77	NM_007186	0	0	0	0	0	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	46	12.862680	0.99702	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.6405	0.45590	0.0897:0.0:0.9103:0.0	.	.	.	.	X	1452;1396	.	ENSP00000341541:E1396X	E	+	1	0	CEP250	33553965	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.361000	0.66092	2.420000	0.82092	0.561000	0.74099	GAA	.		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34090551	G	T	34090551	4	4	31	1	0	0	0	0	0	1	0	0	3259	1175	41	3	4460	3	CEP250	20	34090551	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	582103	34090551	28934969	2170	7722											
RBM12	10137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34242103	34242103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccagcagctacccacTgtctttctgtggcagggcta	11	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34242103T>A	ENST00000374114.3	-	3	1405	c.1142A>T	c.(1141-1143)cAg>cTg	p.Q381L	RBM12_ENST00000359646.1_Missense_Mutation_p.Q381L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.Q381L|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	381						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGCTACCCACTGTCTTTCTGT	0.463											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.Q381L		.											.	RBM12-93	0			c.A1142T						.						175	167	169					20																	34242103		2203	4300	6503	SO:0001583	missense	10137	exon2			ACCCACTGTCTTT	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1142A>T	20.37:g.34242103T>A	ENSP00000363228:p.Gln381Leu	Somatic	101	0	846	WXS	Illumina GAIIx	Phase_I	90	17	NM_001198840	0	0	0	0	0	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123430	0.56613	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.30714	1.52;1.52;1.52	4.59	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000002	T	0.48352	0.1495	L	0.50333	1.59	0.80722	D	1	P	0.50156	0.932	D	0.65773	0.938	T	0.49624	-0.8920	10	0.72032	D	0.01	-2.2348	14.2173	0.65802	0.0:0.0:0.0:1.0	.	381	Q9NTZ6	RBM12_HUMAN	L	381;381;381;180	ENSP00000363228:Q381L;ENSP00000352668:Q381L;ENSP00000363217:Q381L	ENSP00000339879:Q180L	Q	-	2	0	RBM12	33705517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	1.938000	0.56188	0.449000	0.29647	CAG	.		0.463	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		A	34242103	T	A	34242103	3	1	31	1	0	0	0	0	1	0	0	0	13158	1580	55	5	1660	5	RBM12	20	34242103	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	151552	34242103	28783417	2171	7723											
PHF20	51230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34535448	34535448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactggggaactggagcccCctgagccgctggccaggctt	14	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34535448C>T	ENST00000374012.3	+	18	3067	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	980					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTGGAGCCCCCTGAGCCGCT	0.567																																					p.P980S		.											.	PHF20-515	0			c.C2938T						.						52	47	49					20																	34535448		2203	4300	6503	SO:0001583	missense	51230	exon18			GAGCCCCCTGAGC	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2938C>T	20.37:g.34535448C>T	ENSP00000363124:p.Pro980Ser	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	112	50	NM_016436	0	0	0	0	0	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673234	0.67928	.	.	ENSG00000025293	ENST00000374012	T	0.77750	-1.12	5.01	5.01	0.66863	.	0.046808	0.85682	D	0.000000	D	0.87744	0.6254	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88751	0.3250	10	0.72032	D	0.01	.	18.5176	0.90941	0.0:1.0:0.0:0.0	.	980	Q9BVI0	PHF20_HUMAN	S	980	ENSP00000363124:P980S	ENSP00000363124:P980S	P	+	1	0	PHF20	33998862	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.285000	0.78660	2.602000	0.87976	0.650000	0.86243	CCT	.		0.567	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34535448	C	T	34535448	3	4	31	1	0	0	0	0	1	0	0	0	11870	623	22	3	3004	3	PHF20	20	34535448	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	293345	34535448	28490072	2172	7724											
C20orf152	140894	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	34568458	34568458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggatgagatccaggccgtCtgtaacatcttgcaggttct	12	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34568458C>T	ENST00000373973.3	+	4	494	c.321C>T	c.(319-321)gtC>gtT	p.V107V	CNBD2_ENST00000538900.1_Silent_p.V107V|CNBD2_ENST00000349339.1_Silent_p.V107V			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	107																	TCCAGGCCGTCTGTAACATCT	0.547																																					p.V107V		.											.	.	0			c.C321T						.						104	86	92					20																	34568458		2203	4300	6503	SO:0001819	synonymous_variant	140894	exon4			GGCCGTCTGTAAC	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.321C>T	20.37:g.34568458C>T		Somatic	162	1		WXS	Illumina GAIIx	Phase_I	193	46	NM_080834	0	0	0	0	0	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37																																																																																				.		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		T	34568458	C	T	34568458	2	4	31	1	0	0	0	0	0	0	0	1	2099	900	32	3		3	C20orf152	20	34568458	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	33010	34568458	28457062	2173	7725											
PPP1R16B	26051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	37531363	37531363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggctcctgagcagcagatGattgcggacatccactgcat	12	11	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:37531363G>A	ENST00000299824.1	+	6	813	c.624G>A	c.(622-624)atG>atA	p.M208I	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.M208I	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	208					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCAGCAGATGATTGCGGACA	0.567																																					p.M208I		.											.	PPP1R16B-228	0			c.G624A						.						119	100	106					20																	37531363		2203	4300	6503	SO:0001583	missense	26051	exon6			GCAGATGATTGCG	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.624G>A	20.37:g.37531363G>A	ENSP00000299824:p.Met208Ile	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	217	91	NM_001172735	0	0	0	0	0	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914218	0.92178	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.51574	0.7;0.7	4.42	4.42	0.53409	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.60957	1.885	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.54924	0.764;0.764	T	0.53968	-0.8363	10	0.25751	T	0.34	.	17.5774	0.87955	0.0:0.0:1.0:0.0	.	208;208	E9PFS8;Q96T49	.;PP16B_HUMAN	I	208	ENSP00000299824:M208I;ENSP00000362428:M208I	ENSP00000299824:M208I	M	+	3	0	PPP1R16B	36964777	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.345000	0.97053	2.440000	0.82611	0.655000	0.94253	ATG	.		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		A	37531363	G	A	37531363	3	1	31	1	0	0	0	0	1	0	0	0	12408	1290	45	3	642	3	PPP1R16B	20	37531363	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2962905	37531363	25494157	2174	7726											
MAFB	9935	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	39316536	39316536	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gactcacagaaagaactcggGagaggaggggctgtcgctgg	17	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:39316536G>C	ENST00000373313.2	-	1	1344	c.955C>G	c.(955-957)Ccc>Gcc	p.P319A	MAFB_ENST00000396967.1_Missense_Mutation_p.P319A	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	319					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				AAGAACTCGGGAGAGGAGGGG	0.687			T	IGH@	MM																																p.P319A		.		Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	.	MAFB-846	0			c.C955G						.						32	38	36					20																	39316536		2203	4300	6503	SO:0001583	missense	9935	exon1			ACTCGGGAGAGGA	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"Kreisler (mouse) maf-related leucine zipper homolog"	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.955C>G	20.37:g.39316536G>C	ENSP00000362410:p.Pro319Ala	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	59	21	NM_005461	0	0	0	0	0	B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361015	0.41801	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.98249	-4.82;-4.82	3.67	3.67	0.42095	.	0.120260	0.56097	D	0.000021	D	0.97250	0.9101	M	0.64170	1.965	0.80722	D	1	B	0.29988	0.264	B	0.36885	0.235	D	0.97702	1.0185	10	0.48119	T	0.1	-13.2719	16.0038	0.80344	0.0:0.0:1.0:0.0	.	319	Q9Y5Q3	MAFB_HUMAN	A	319	ENSP00000362410:P319A;ENSP00000380167:P319A	ENSP00000362410:P319A	P	-	1	0	MAFB	38749950	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.612000	0.82975	2.072000	0.62099	0.456000	0.33151	CCC	.		0.687	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			C	39316536	G	C	39316536	3	2	31	1	0	0	0	0	1	0	0	0	9194	1174	41	3	20	3	MAFB	20	39316536	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1785173	39316536	23708984	2175	7727											
PTPRT	11122	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	40980823	40980823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtccctgggtacagacCcacaaagaggtggtgggttt	16	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:40980823C>A	ENST00000373187.1	-	10	1662	c.1663G>T	c.(1663-1665)Ggt>Tgt	p.G555C	PTPRT_ENST00000373190.1_Missense_Mutation_p.G555C|PTPRT_ENST00000373198.4_Missense_Mutation_p.G555C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G555C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTACAGACCCACAAAGAGG	0.567																																					p.G555C		.											.	PTPRT-664	0			c.G1663T						.						84	89	88					20																	40980823		1947	4131	6078	SO:0001583	missense	11122	exon10			ACAGACCCACAAA	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1663G>T	20.37:g.40980823C>A	ENSP00000362283:p.Gly555Cys	Somatic	145	2		WXS	Illumina GAIIx	Phase_I	154	66	NM_007050	0	0	0	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982487	0.93044	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.983;0.985	D	0.87772	0.2606	10	0.72032	D	0.01	.	20.5541	0.99286	0.0:1.0:0.0:0.0	.	555;555	O14522-1;O14522	.;PTPRT_HUMAN	C	555	ENSP00000362286:G555C;ENSP00000362283:G555C;ENSP00000362289:G555C;ENSP00000348408:G555C;ENSP00000362294:G555C;ENSP00000362280:G555C;ENSP00000362297:G555C	ENSP00000348408:G555C	G	-	1	0	PTPRT	40414237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.864000	0.98301	0.551000	0.68910	GGT	.		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40980823	C	A	40980823	3	1	31	1	0	0	0	0	1	0	0	0	12857	623	22	3	2811	3	PTPRT	20	40980823	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1664287	40980823	22044697	2176	7728											
L3MBTL	26013	hgsc.bcm.edu	37	chr20	42143400	42143400	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgggagatggcgaggcGggcccccaacaggcgggtag	20	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42143400G>T	ENST00000427442.2	+	4	579	c.420G>T	c.(418-420)gcG>gcT	p.A140A	L3MBTL1_ENST00000444063.1_Silent_p.A72A|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.A140A|L3MBTL1_ENST00000373134.1_Silent_p.A72A|L3MBTL1_ENST00000373135.3_Silent_p.A72A			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	72					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGGCGAGGCGGGCCCCCAAC	0.746																																					p.A140A		.											.	L3MBTL1-227	0			c.G420T						.						4	6	5					20																	42143400		2013	3977	5990	SO:0001819	synonymous_variant	26013	exon4			CGAGGCGGGCCCC	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.420G>T	20.37:g.42143400G>T		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	102	60	NM_032107	0	0	0	0	0	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	CCDS46602.2																																																																																			.		0.746	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		T	42143400	G	T	42143400	2	4	31	1	0	0	0	0	0	0	0	1	8619	1103	39	2		2	L3MBTL	20	42143400	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1162577	42143400	20882120	2177	7729											
MYBL2	4605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	42315672	42315672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcccacaaggtgctgGgcaaccgctgggccgagatc	16	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42315672G>C	ENST00000217026.4	+	5	587	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R	MYBL2_ENST00000396863.4_Missense_Mutation_p.G130R	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	154	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)			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)			CAAGGTGCTGGGCAACCGCTG	0.617																																					p.G154R		.											.	MYBL2-415	0			c.G460C						.						38	32	34					20																	42315672		2203	4300	6503	SO:0001583	missense	4605	exon5			GTGCTGGGCAACC		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.460G>C	20.37:g.42315672G>C	ENSP00000217026:p.Gly154Arg	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	118	57	NM_002466	0	0	0	0	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979417	0.92982	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.69926	1.62;-0.44	5.36	5.36	0.76844	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	D	0.87241	0.6128	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.955	D	0.90453	0.4440	10	0.87932	D	0	-36.977	18.2387	0.89958	0.0:0.0:1.0:0.0	.	130;154	F8W6N6;P10244	.;MYBB_HUMAN	R	130;154	ENSP00000380072:G130R;ENSP00000217026:G154R	ENSP00000217026:G154R	G	+	1	0	MYBL2	41749086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.726000	0.98782	2.687000	0.91594	0.462000	0.41574	GGC	.		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		C	42315672	G	C	42315672	3	2	31	1	0	0	0	0	1	0	0	0	10048	1232	43	3	478	3	MYBL2	20	42315672	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	172272	42315672	20709848	2178	7730											
TOX2	84969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	42683068	42683068	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactcttcttcagagacactCaggccgccatcaagggtcag	9	14	6	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42683068C>T	ENST00000358131.5	+	5	1016	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q261*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q219*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q219*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	270					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGAGACACTCAGGCCGCCAT	0.557																																					p.Q270X		.											.	TOX2-91	0			c.C808T						.						72	64	67					20																	42683068		2203	4300	6503	SO:0001587	stop_gained	84969	exon5			GACACTCAGGCCG	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.808C>T	20.37:g.42683068C>T	ENSP00000350849:p.Gln270*	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	174	75	NM_001098798	0	0	0	0	0	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.625173	0.97714	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.2388	0.59985	0.0:0.9239:0.0:0.0761	.	.	.	.	X	261;219;219;270;139	.	ENSP00000344724:Q261X	Q	+	1	0	TOX2	42116482	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.818000	0.86416	1.308000	0.44962	-0.142000	0.14014	CAG	.		0.557	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			T	42683068	C	T	42683068	4	4	31	1	0	0	0	0	0	1	0	0	16426	827	29	3	929	3	TOX2	20	42683068	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	367396	42683068	20342452	2179	7731											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348703	43348703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgacgccagccagggcCtggtctgccagcccggggca	15	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:43348703C>A	ENST00000372868.2	+	3	569	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.L76M|WISP2_ENST00000190983.4_Missense_Mutation_p.L76M|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	76	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L76L(1)		skin(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCCAGGGCCTGGTCTGCCA	0.706																																					p.L76M		.											.	WISP2-130	1	Substitution - coding silent(1)	skin(1)	c.C226A						.						9	9	9					20																	43348703		2185	4268	6453	SO:0001583	missense	8839	exon2			CAGGGCCTGGTCT	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.226C>A	20.37:g.43348703C>A	ENSP00000361959:p.Leu76Met	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	24	14	NM_003881	0	0	0	0	0	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108400	0.56291	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	T;T;T	0.78003	-1.14;-1.14;-1.14	5.53	4.59	0.56863	Insulin-like growth factor-binding protein, IGFBP (3);	0.000000	0.64402	D	0.000001	D	0.88987	0.6587	M	0.85462	2.755	0.52501	D	0.999955	D;D	0.89917	0.991;1.0	P;D	0.97110	0.762;1.0	D	0.90619	0.4558	10	0.62326	D	0.03	-14.569	15.933	0.79679	0.1361:0.8639:0.0:0.0	.	76;76	Q6PEG3;O76076	.;WISP2_HUMAN	M	76	ENSP00000361959:L76M;ENSP00000361956:L76M;ENSP00000190983:L76M	ENSP00000190983:L76M	L	+	1	2	WISP2	42782117	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	3.817000	0.55668	1.335000	0.45486	-0.164000	0.13417	CTG	.		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348703	C	A	43348703	3	1	31	1	0	0	0	0	1	0	0	0	17422	680	24	3	232	3	WISP2	20	43348703	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	665635	43348703	19676817	2180	7732											
RIMS4	140730	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43384921	43384921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagggtggtcaagtccagctCctccagcagcacgcgagcca	12	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:43384921C>G	ENST00000372851.3	-	6	730	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E223Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	222					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.E222Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AAGTCCAGCTCCTCCAGCAGC	0.642																																					p.E223Q		.											.	RIMS4-94	1	Substitution - Missense(1)	ovary(1)	c.G667C						.						57	48	51					20																	43384921		2203	4300	6503	SO:0001583	missense	140730	exon6			CCAGCTCCTCCAG		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.664G>C	20.37:g.43384921C>G	ENSP00000361942:p.Glu222Gln	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	139	63	NM_001205317	0	0	0	0	0	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490144	0.64074	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79845	-1.31;-1.31	5.07	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.52905	1.665	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.29524	0.103;0.084	T	0.79142	-0.1925	10	0.72032	D	0.01	.	18.4886	0.90838	0.0:1.0:0.0:0.0	.	223;222	E1P613;Q9H426	.;RIMS4_HUMAN	Q	222;223	ENSP00000361942:E222Q;ENSP00000439287:E223Q	ENSP00000361942:E222Q	E	-	1	0	RIMS4	42818335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.355000	0.79922	0.655000	0.94253	GAG	.		0.642	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		G	43384921	C	G	43384921	3	3	31	1	0	0	0	0	1	0	0	0	13415	864	30	3	149	3	RIMS4	20	43384921	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	36218	43384921	19640599	2181	7733											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000481847.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_052951	0	0	0	0	0	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	31	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1035761	44420682	18604838	2182	7734											
ZNF334	55713	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45130422	45130422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcatgcccatgttcactaCactcataaagattctccttt	5	13	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45130422C>A	ENST00000347606.4	-	5	1738	c.1556G>T	c.(1555-1557)tGt>tTt	p.C519F	ZNF334_ENST00000593880.1_Missense_Mutation_p.C542F|ZNF334_ENST00000457685.2_Missense_Mutation_p.C481F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)			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)				ATGTTCACTACACTCATAAAG	0.403																																					p.C519F		.											.	ZNF334-92	0			c.G1556T						.						216	200	205					20																	45130422		2203	4300	6503	SO:0001583	missense	55713	exon5			TCACTACACTCAT	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.1556G>T	20.37:g.45130422C>A	ENSP00000255129:p.Cys519Phe	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	127	27	NM_018102	0	0	0	0	0	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586504	0.13749	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.65549	-0.16;-0.16	3.45	-1.01	0.10169	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60792	0.2296	M	0.89785	3.06	0.09310	N	1	B;B;B	0.29432	0.244;0.148;0.153	B;B;B	0.20955	0.032;0.032;0.032	T	0.57894	-0.7732	9	0.87932	D	0	.	3.8933	0.09128	0.1672:0.5253:0.0:0.3075	.	481;519;542	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	F	481;519	ENSP00000402582:C481F;ENSP00000255129:C519F	ENSP00000255129:C519F	C	-	2	0	ZNF334	44563829	0.635000	0.27199	0.000000	0.03702	0.004000	0.04260	2.224000	0.42945	-0.303000	0.08856	-0.293000	0.09583	TGT	.		0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			A	45130422	C	A	45130422	3	1	31	1	0	0	0	0	1	0	0	0	17899	478	17	3	490	3	ZNF334	20	45130422	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	709740	45130422	17895098	2183	7735											
SLC2A10	81031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45354555	45354555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggggctggtggaccgtGcaggccgcagggctctgttg	18	11	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45354555G>T	ENST00000359271.2	+	2	1130	c.880G>T	c.(880-882)Gca>Tca	p.A294S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	294					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)				GGTGGACCGTGCAGGCCGCAG	0.662																																					p.A294S		.											.	SLC2A10-91	0			c.G880T						.						88	83	85					20																	45354555		2203	4300	6503	SO:0001583	missense	81031	exon2			GACCGTGCAGGCC	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.880G>T	20.37:g.45354555G>T	ENSP00000352216:p.Ala294Ser	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	167	39	NM_030777	0	0	0	0	0	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277220	0.80580	.	.	ENSG00000197496	ENST00000359271	T	0.75154	-0.91	5.23	4.28	0.50868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.407128	0.28589	N	0.014808	T	0.79370	0.4434	M	0.66378	2.025	0.26343	N	0.97733	P	0.44659	0.84	P	0.50270	0.636	T	0.72207	-0.4360	10	0.33940	T	0.23	-0.7218	15.9873	0.80168	0.0:0.1349:0.865:0.0	.	294	O95528	GTR10_HUMAN	S	294	ENSP00000352216:A294S	ENSP00000352216:A294S	A	+	1	0	SLC2A10	44787962	1.000000	0.71417	0.061000	0.19648	0.941000	0.58515	6.665000	0.74442	1.433000	0.47394	0.655000	0.94253	GCA	.		0.662	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			T	45354555	G	T	45354555	3	4	31	1	0	0	0	0	1	0	0	0	14584	1319	46	3	886	3	SLC2A10	20	45354555	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	224133	45354555	17670965	2184	7736											
EYA2	2139	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45700881	45700881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacgcagccggtttcgggaGtgtgcaccaggtagacatgg	15	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45700881G>T	ENST00000327619.5	+	6	847	c.473G>T	c.(472-474)aGt>aTt	p.S158I	EYA2_ENST00000357410.3_Missense_Mutation_p.S158I|EYA2_ENST00000317304.6_Missense_Mutation_p.S158I	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	158					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGTTTCGGGAGTGTGCACCAG	0.542																																					p.S158I	Pancreas(120;56 1725 18501 25218 43520)	.											.	EYA2-523	0			c.G473T						.						80	67	71					20																	45700881		2203	4300	6503	SO:0001583	missense	2139	exon6			TCGGGAGTGTGCA		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.473G>T	20.37:g.45700881G>T	ENSP00000333640:p.Ser158Ile	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	163	29	NM_172110	0	0	0	0	0	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107105	0.20714	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.81821	-1.54;-1.54;-1.54	5.12	0.486	0.16836	.	0.749814	0.13625	N	0.374125	T	0.70193	0.3196	L	0.34521	1.04	0.09310	N	1	P;B;B;B	0.49090	0.919;0.076;0.276;0.095	B;B;B;B	0.37304	0.246;0.106;0.141;0.141	T	0.60393	-0.7272	10	0.33141	T	0.24	-18.4469	18.2489	0.89996	0.0:0.6357:0.3642:0.0	.	158;158;158;158	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	I	158	ENSP00000333640:S158I;ENSP00000349986:S158I;ENSP00000321590:S158I	ENSP00000321590:S158I	S	+	2	0	EYA2	45134288	0.770000	0.28543	0.327000	0.25402	0.128000	0.20619	0.705000	0.25675	0.157000	0.19338	0.555000	0.69702	AGT	.		0.542	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		T	45700881	G	T	45700881	3	4	31	1	0	0	0	0	1	0	0	0	5345	1029	36	3	491	3	EYA2	20	45700881	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	346326	45700881	17324639	2185	7737											
EYA2	2139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45771748	45771748	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatggaagagatgatcttCaaccttgcagatacacatct	8	8	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45771748C>A	ENST00000327619.5	+	10	1313	c.939C>A	c.(937-939)ttC>ttA	p.F313L	EYA2_ENST00000357410.3_Missense_Mutation_p.F313L|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	313					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGATGATCTTCAACCTTGCAG	0.463																																					p.F313L	Pancreas(120;56 1725 18501 25218 43520)	.											.	EYA2-523	0			c.C939A						.						237	180	199					20																	45771748		2203	4300	6503	SO:0001583	missense	2139	exon10			GATCTTCAACCTT		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.939C>A	20.37:g.45771748C>A	ENSP00000333640:p.Phe313Leu	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	137	65	NM_172110	0	0	0	0	0	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690708	0.96793	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.81996	-1.56;-1.56;-1.56	6.08	6.08	0.98989	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.50919	1.6	0.80722	D	1	D;P;P	0.63880	0.993;0.953;0.953	D;D;D	0.67231	0.95;0.921;0.921	D	0.85792	0.1368	10	0.33940	T	0.23	-18.9488	20.6634	0.99662	0.0:1.0:0.0:0.0	.	313;313;313	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	L	313;313;184	ENSP00000333640:F313L;ENSP00000349986:F313L;ENSP00000395427:F184L	ENSP00000333640:F313L	F	+	3	2	EYA2	45205155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.894000	0.99253	0.655000	0.94253	TTC	.		0.463	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		A	45771748	C	A	45771748	3	1	31	1	0	0	0	0	1	0	0	0	5345	825	29	3	973	3	EYA2	20	45771748	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	70867	45771748	17253772	2186	7738											
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45976616	45976616	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcacctttggagcgagtagaGatatccatgccctctaccac	8	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45976616G>C	ENST00000311275.7	-	2	262	c.9C>G	c.(7-9)atC>atG	p.I3M	RP4-569M23.4_ENST00000609320.1_RNA|ZMYND8_ENST00000360911.3_Missense_Mutation_p.I23M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.I3M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.I23M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.I23M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.I23M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.I30M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.I3M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.I28M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.I23M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.I23M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.I23M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.I3M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.I23I(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGAGTAGAGATATCCATGC	0.388																																					p.I23M		.											.	ZMYND8-252	1	Substitution - coding silent(1)	lung(1)	c.C69G						.						169	160	163					20																	45976616		2203	4300	6503	SO:0001583	missense	23613	exon2			AGTAGAGATATCC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.9C>G	20.37:g.45976616G>C	ENSP00000312237:p.Ile3Met	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	54	15	NM_183048	0	0	0	0	0	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247866	0.59103	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836;ENST00000446894;ENST00000441977	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96104	-1.83;-1.92;-1.83;-1.92;-1.67;-1.66;-1.78;-1.68;-1.93;-2.78;-1.67;-1.86;-1.82;-3.91	5.86	3.94	0.45596	.	0.216973	0.40064	N	0.001184	D	0.94574	0.8252	N	0.24115	0.695	0.27856	N	0.940589	D;P;P;P;B;P;P;B;B;B;P;B;B;P;P;D;P	0.58620	0.983;0.951;0.919;0.523;0.429;0.951;0.951;0.447;0.313;0.199;0.919;0.375;0.209;0.954;0.925;0.974;0.919	P;P;P;B;B;P;P;B;B;B;P;B;B;P;P;P;P	0.61800	0.83;0.894;0.569;0.429;0.193;0.859;0.894;0.097;0.097;0.086;0.635;0.429;0.045;0.569;0.592;0.646;0.707	D	0.90178	0.4240	10	0.87932	D	0	-0.14	12.5493	0.56218	0.1339:0.0:0.8661:0.0	.	23;30;23;23;23;23;3;23;23;23;3;3;23;23;23;23;28	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	M	23;3;23;3;23;23;28;30;3;3;23;23;23;3;3;3	ENSP00000354166:I23M;ENSP00000312237:I3M;ENSP00000392964:I23M;ENSP00000262975:I3M;ENSP00000420095:I23M;ENSP00000335537:I23M;ENSP00000379577:I28M;ENSP00000439800:I30M;ENSP00000348246:I3M;ENSP00000396725:I3M;ENSP00000418210:I23M;ENSP00000361093:I23M;ENSP00000443086:I23M;ENSP00000413727:I3M	ENSP00000262975:I3M	I	-	3	3	ZMYND8	45410023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.028000	0.30128	0.836000	0.34901	0.563000	0.77884	ATC	.		0.388	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		C	45976616	G	C	45976616	3	2	31	1	0	0	0	0	1	0	0	0	17759	932	33	3	3585	3	ZMYND8	20	45976616	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	204868	45976616	17048904	2187	7739											
SULF2	55959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	46311853	46311853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccgatgtggtaaccgtggtCggcggtgtatacgatgtacg	16	8	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:46311853C>A	ENST00000359930.4	-	7	1800	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	SULF2_ENST00000361612.4_Missense_Mutation_p.D317Y|SULF2_ENST00000484875.1_Missense_Mutation_p.D317Y|SULF2_ENST00000467815.1_Missense_Mutation_p.D317Y|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	317					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TAACCGTGGTCGGCGGTGTAT	0.567																																					p.D317Y		.											.	SULF2-293	0			c.G949T						.						118	80	93					20																	46311853		2203	4300	6503	SO:0001583	missense	55959	exon7			CGTGGTCGGCGGT	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.949G>T	20.37:g.46311853C>A	ENSP00000353007:p.Asp317Tyr	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	279	55	NM_001161841	0	0	0	0	0	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.767240	0.90020	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99944	-8.55;-8.55;-8.55;-8.55	4.95	4.95	0.65309	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.087785	0.85682	D	0.000000	D	0.99964	0.9986	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	D	0.96530	0.9392	10	0.87932	D	0	-27.6549	18.787	0.91959	0.0:1.0:0.0:0.0	.	317;317	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Y	317	ENSP00000353007:D317Y;ENSP00000418290:D317Y;ENSP00000354662:D317Y;ENSP00000418442:D317Y	ENSP00000353007:D317Y	D	-	1	0	SULF2	45745260	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	7.606000	0.82863	2.751000	0.94390	0.537000	0.68136	GAC	.		0.567	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46311853	C	A	46311853	3	1	31	1	0	0	0	0	1	0	0	0	15418	884	31	2	1723	2	SULF2	20	46311853	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	335237	46311853	16713667	2188	7740											
SULF2	55959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	46385940	46385940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaggcttacccagctcCacatcctggtcgtccgtcag	9	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:46385940C>A	ENST00000359930.4	-	2	1019	c.168G>T	c.(166-168)gtG>gtT	p.V56V	SULF2_ENST00000361612.4_Silent_p.V56V|SULF2_ENST00000484875.1_Silent_p.V56V|SULF2_ENST00000467815.1_Silent_p.V56V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	56					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACCCAGCTCCACATCCTGGT	0.657																																					p.V56V		.											.	SULF2-293	0			c.G168T						.						40	30	34					20																	46385940		2183	4267	6450	SO:0001819	synonymous_variant	55959	exon2			CAGCTCCACATCC	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.168G>T	20.37:g.46385940C>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	73	31	NM_001161841	0	0	0	0	0	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																			.		0.657	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46385940	C	A	46385940	2	1	31	1	0	0	0	0	0	0	0	1	15418	581	21	3		3	SULF2	20	46385940	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	74087	46385940	16639580	2189	7741											
PREX1	57580	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47262418	47262418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgataactcatggtgtcGtggcctgagtcctcctggtc	12	12	1	1	rs533666594		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:47262418G>C	ENST00000371941.3	-	26	3505	c.3483C>G	c.(3481-3483)caC>caG	p.H1161Q	PREX1_ENST00000396220.1_Missense_Mutation_p.H1161Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1161					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)			TCATGGTGTCGTGGCCTGAGT	0.612																																					p.H1161Q		.											.	PREX1-231	0			c.C3483G						.						145	99	114					20																	47262418		2203	4300	6503	SO:0001583	missense	57580	exon26			GGTGTCGTGGCCT	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.3483C>G	20.37:g.47262418G>C	ENSP00000361009:p.His1161Gln	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	154	65	NM_020820	0	0	0	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511205	0.64522	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.41758	0.99;0.99	4.8	-5.64	0.02466	.	0.000000	0.56097	U	0.000025	T	0.56156	0.1966	M	0.70275	2.135	0.50813	D	0.999896	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62229	-0.6898	10	0.72032	D	0.01	.	13.5523	0.61738	0.8344:0.0:0.1656:0.0	.	1161;458	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1161	ENSP00000361009:H1161Q;ENSP00000379522:H1161Q	ENSP00000361009:H1161Q	H	-	3	2	PREX1	46695825	0.227000	0.23707	0.849000	0.33467	0.918000	0.54935	-0.318000	0.08050	-1.313000	0.02303	-1.202000	0.01658	CAC	.		0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47262418	G	C	47262418	3	2	31	1	0	0	0	0	1	0	0	0	12518	1136	40	2	1556	2	PREX1	20	47262418	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	876478	47262418	15763102	2190	7742											
PREX1	57580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47317415	47317415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtgcagatgtctgtgaGgttggaaccctggaagcgca	15	8	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:47317415G>T	ENST00000371941.3	-	7	815	c.793C>A	c.(793-795)Ctc>Atc	p.L265I	PREX1_ENST00000396220.1_Missense_Mutation_p.L265I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	265					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)			ATGTCTGTGAGGTTGGAACCC	0.532																																					p.L265I		.											.	PREX1-231	0			c.C793A						.						171	165	167					20																	47317415		2203	4300	6503	SO:0001583	missense	57580	exon7			CTGTGAGGTTGGA	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.793C>A	20.37:g.47317415G>T	ENSP00000361009:p.Leu265Ile	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	127	63	NM_020820	0	0	0	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727120	0.30593	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.88431	-2.38;-2.38	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.000000	0.46442	U	0.000281	T	0.74627	0.3741	N	0.04880	-0.145	0.80722	D	1	P	0.36282	0.546	B	0.31442	0.13	T	0.76852	-0.2806	10	0.05436	T	0.98	.	18.9024	0.92448	0.0:0.0:1.0:0.0	.	265	Q8TCU6	PREX1_HUMAN	I	265	ENSP00000361009:L265I;ENSP00000379522:L265I	ENSP00000361009:L265I	L	-	1	0	PREX1	46750822	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.025000	0.64097	2.526000	0.85167	0.455000	0.32223	CTC	.		0.532	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47317415	G	T	47317415	3	4	31	1	0	0	0	0	1	0	0	0	12518	1000	35	3	4322	3	PREX1	20	47317415	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	54997	47317415	15708105	2191	7743											
B4GALT5	9334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	48257052	48257052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatttggttgcaaaatgccTcggcatctgtccacatccat	7	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:48257052T>A	ENST00000371711.4	-	6	944	c.757A>T	c.(757-759)Agg>Tgg	p.R253W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	253					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)			GCAAAATGCCTCGGCATCTGT	0.373																																					p.R253W		.											.	B4GALT5-91	0			c.A757T						.						139	134	135					20																	48257052		2203	4300	6503	SO:0001583	missense	9334	exon6			AATGCCTCGGCAT	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.757A>T	20.37:g.48257052T>A	ENSP00000360776:p.Arg253Trp	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	55	27	NM_004776	0	0	0	0	0	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547103	0.86022	.	.	ENSG00000158470	ENST00000371711	T	0.36699	1.24	5.91	4.78	0.61160	.	0.086594	0.85682	D	0.000000	T	0.67211	0.2869	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74237	-0.3730	10	0.87932	D	0	-23.4315	11.9734	0.53075	0.0:0.0:0.2751:0.7249	.	253	O43286	B4GT5_HUMAN	W	253	ENSP00000360776:R253W	ENSP00000360776:R253W	R	-	1	2	B4GALT5	47690459	1.000000	0.71417	0.952000	0.39060	0.983000	0.72400	3.540000	0.53611	1.020000	0.39573	0.533000	0.62120	AGG	.		0.373	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		A	48257052	T	A	48257052	3	1	31	1	0	0	0	0	1	0	0	0	1275	1550	54	5	425	5	B4GALT5	20	48257052	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	939637	48257052	14768468	2192	7744											
SALL4	57167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	50408431	50408431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagggagtgcatccgcGctccgctgattcaccgccac	14	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:50408431G>T	ENST00000217086.4	-	2	702	c.591C>A	c.(589-591)agC>agA	p.S197R	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.S197R|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	197					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGCATCCGCGCTCCGCTGAT	0.602																																					p.S197R		.											.	SALL4-92	0			c.C591A						.						91	91	91					20																	50408431		2203	4300	6503	SO:0001583	missense	57167	exon2			ATCCGCGCTCCGC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.591C>A	20.37:g.50408431G>T	ENSP00000217086:p.Ser197Arg	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_020436	0	0	0	0	0	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127184	0.37533	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.68903	-0.36;-0.36	4.91	-2.45	0.06481	.	0.274299	0.26439	N	0.024361	T	0.64638	0.2616	M	0.65975	2.015	0.09310	N	0.999999	D;D	0.55385	0.971;0.971	P;P	0.49561	0.615;0.615	T	0.62520	-0.6837	10	0.87932	D	0	-21.1181	8.4146	0.32664	0.4918:0.1037:0.4044:0.0	.	197;197	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	R	197	ENSP00000217086:S197R;ENSP00000379319:S197R	ENSP00000217086:S197R	S	-	3	2	SALL4	49841838	0.000000	0.05858	0.242000	0.24170	0.794000	0.44872	-0.913000	0.04042	-0.322000	0.08615	-0.140000	0.14226	AGC	.		0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50408431	G	T	50408431	3	4	31	1	0	0	0	0	1	0	0	0	13858	1078	38	2	2582	2	SALL4	20	50408431	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2151379	50408431	12617089	2193	7745											
PCK1	5105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	56139391	56139391	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaggcattgatgagccGctagcttcaggtgtcaccat	13	9	2	2	rs200264001		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:56139391G>T	ENST00000319441.4	+	7	1292	c.1128G>T	c.(1126-1128)ccG>ccT	p.P376P	PCK1_ENST00000543666.1_Silent_p.P59P|PCK1_ENST00000535860.1_Silent_p.P244P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	376					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGATGAGCCGCTAGCTTCAG	0.567																																					p.P376P		.											.	PCK1-227	0			c.G1128T						.						101	89	93					20																	56139391		2203	4300	6503	SO:0001819	synonymous_variant	5105	exon7			TGAGCCGCTAGCT		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1128G>T	20.37:g.56139391G>T		Somatic	277	0		WXS	Illumina GAIIx	Phase_I	268	54	NM_002591	0	0	0	0	0	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																			G|0.999;A|0.000		0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			T	56139391	G	T	56139391	2	4	31	1	0	0	0	0	0	0	0	1	11620	1074	38	2		2	PCK1	20	56139391	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5730960	56139391	6886129	2194	7746											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	57428374	57428374	+	Frame_Shift_Del	DEL	C	C	-													atgtcaggacaacgcgatatCccccctgaaatcggggaaca							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57428374delC	ENST00000371100.4	+	1	606	c.54delC	c.(52-54)atcfs	p.I18fs	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Frame_Shift_Del_p.I18fs|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Del_p.I18fs|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	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)			AACGCGATATCCCCCCTGAAA	0.607			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.I18fs	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	.	GNAS-4767	0			c.54delC						.						21	24	23					20																	57428374		692	1591	2283	SO:0001589	frameshift_variant	2778	exon1			CGATATCCCCCCT	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	ENST00000371100.4:c.54delC	20.37:g.57428374delC	ENSP00000360141:p.Ile18fs	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	111	51	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Del	DEL	ENST00000371100.4	37	CCDS46622.1																																																																																			.		0.607	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		-	57428374	C	-	57428374	7	5	31	1	0	1	0	1	0	0	0	0	6536	845	30	0	798	0	GNAS	20	57428374	Frame_Shift_Del	DEL	C	TCGA-OR-A5KB-01A-11D-A30A-10	1288983	57428374	5597146	2195	7747											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57768917	57768917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcaggttacctcaggCagagacccccttaccactgc	7	18	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57768917C>A	ENST00000371030.2	+	1	2843	c.2843C>A	c.(2842-2844)gCa>gAa	p.A948E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	948							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)					TTACCTCAGGCAGAGACCCCC	0.607																																					p.A948E		.											.	ZNF831-126	0			c.C2843A						.						86	87	87					20																	57768917		2009	4167	6176	SO:0001583	missense	128611	exon1			CTCAGGCAGAGAC	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.2843C>A	20.37:g.57768917C>A	ENSP00000360069:p.Ala948Glu	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	68	34	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335502	0.11013	.	.	ENSG00000124203	ENST00000371030	T	0.03386	3.95	5.05	0.647	0.17796	.	0.526628	0.17322	N	0.178453	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.47898	-0.9081	10	0.08179	T	0.78	-0.9952	3.8788	0.09069	0.4267:0.2392:0.334:0.0	.	948	Q5JPB2	ZN831_HUMAN	E	948	ENSP00000360069:A948E	ENSP00000360069:A948E	A	+	2	0	ZNF831	57202312	.	.	0.565000	0.28409	0.696000	0.40369	.	.	0.264000	0.21851	0.655000	0.94253	GCA	.		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57768917	C	A	57768917	3	1	31	1	0	0	0	0	1	0	0	0	18233	710	25	3	2845	3	ZNF831	20	57768917	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	340543	57768917	5256603	2196	7748											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57769069	57769069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcaggcccctccccaGgtgaggcggacagcatcctg	12	17	1	1	rs367871458		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57769069G>T	ENST00000371030.2	+	1	2995	c.2995G>T	c.(2995-2997)Ggt>Tgt	p.G999C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	999							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)					CCCCTCCCCAGGTGAGGCGGA	0.642																																					p.G999C		.											.	ZNF831-126	0			c.G2995T						.	G	CYS/GLY	0,3878		0,0,1939	38	40	39		2995	2.5	0	20		39	1,8279		0,1,4139	no	missense	ZNF831	NM_178457.1	159	0,1,6078	TT,TG,GG		0.0121,0.0,0.0082	probably-damaging	999/1678	57769069	1,12157	1939	4140	6079	SO:0001583	missense	128611	exon1			TCCCCAGGTGAGG	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.2995G>T	20.37:g.57769069G>T	ENSP00000360069:p.Gly999Cys	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	34	13	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587275	0.46110	0.0	1.21E-4	ENSG00000124203	ENST00000371030	T	0.10288	2.89	4.56	2.45	0.29901	.	0.659654	0.13921	N	0.353569	T	0.13286	0.0322	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.10636	-1.0621	10	0.72032	D	0.01	-0.6762	6.6522	0.22969	0.1058:0.1823:0.7119:0.0	.	999	Q5JPB2	ZN831_HUMAN	C	999	ENSP00000360069:G999C	ENSP00000360069:G999C	G	+	1	0	ZNF831	57202464	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-0.367000	0.07553	1.051000	0.40369	0.467000	0.42956	GGT	.		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57769069	G	T	57769069	3	4	31	1	0	0	0	0	1	0	0	0	18233	1000	35	3	2997	3	ZNF831	20	57769069	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	152	57769069	5256451	2197	7749											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57769218	57769218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcagcaccaggggctccCagggaggctacctcctcccc	10	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57769218C>A	ENST00000371030.2	+	1	3144	c.3144C>A	c.(3142-3144)ccC>ccA	p.P1048P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1048							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)					CAGGGGCTCCCAGGGAGGCTA	0.632																																					p.P1048P		.											.	ZNF831-126	0			c.C3144A						.						19	24	22					20																	57769218		2053	4211	6264	SO:0001819	synonymous_variant	128611	exon1			GGCTCCCAGGGAG	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.3144C>A	20.37:g.57769218C>A		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	93	20	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57769218	C	A	57769218	2	1	31	1	0	0	0	0	0	0	0	1	18233	581	21	3		3	ZNF831	20	57769218	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	149	57769218	5256302	2198	7750											
ZNF831	128611	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	57828115	57828115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagagaagaaggaaggtgaCtgcagacaaaccttaggaac	13	6	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57828115C>A	ENST00000371030.2	+	4	4110	c.4110C>A	c.(4108-4110)gaC>gaA	p.D1370E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1370							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)					AGGAAGGTGACTGCAGACAAA	0.488																																					p.D1370E		.											.	ZNF831-126	0			c.C4110A						.						117	116	117					20																	57828115		1949	4143	6092	SO:0001583	missense	128611	exon4			AGGTGACTGCAGA	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.4110C>A	20.37:g.57828115C>A	ENSP00000360069:p.Asp1370Glu	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	187	89	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194373	0.22037	.	.	ENSG00000124203	ENST00000371030	T	0.04706	3.57	5.0	-0.45	0.12223	.	0.876918	0.09535	N	0.789077	T	0.02929	0.0087	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.49143	-0.8970	10	0.08599	T	0.76	-0.4021	1.2265	0.01934	0.1542:0.4343:0.1498:0.2617	.	1370	Q5JPB2	ZN831_HUMAN	E	1370	ENSP00000360069:D1370E	ENSP00000360069:D1370E	D	+	3	2	ZNF831	57261510	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.140000	0.10342	-0.340000	0.08388	0.563000	0.77884	GAC	.		0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57828115	C	A	57828115	3	1	31	1	0	0	0	0	1	0	0	0	18233	564	20	3	4124	3	ZNF831	20	57828115	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	58897	57828115	5197405	2199	7751											
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57829495	57829495	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggaccaagttcagcTagttcacaccacaaggaagg	10	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57829495T>A	ENST00000371030.2	+	5	4731	c.4731T>A	c.(4729-4731)gcT>gcA	p.A1577A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1577							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)					CAAGTTCAGCTAGTTCACACC	0.478																																					p.A1577A		.											.	ZNF831-126	0			c.T4731A						.						66	65	66					20																	57829495		1920	4123	6043	SO:0001819	synonymous_variant	128611	exon5			TTCAGCTAGTTCA	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.4731T>A	20.37:g.57829495T>A		Somatic	229	0		WXS	Illumina GAIIx	Phase_I	211	86	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.478	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57829495	T	A	57829495	2	1	31	1	0	0	0	0	0	0	0	1	18233	1509	53	5		5	ZNF831	20	57829495	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1380	57829495	5196025	2200	7752											
PHACTR3	116154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	58349336	58349336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaagggtctccaaagaagcGgctggatgtccgtctgtcga	13	9	2	1	rs143127476		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:58349336G>T	ENST00000371015.1	+	7	1432	c.965G>T	c.(964-966)cGg>cTg	p.R322L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R319L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R281L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R211L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R281L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R281L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R211L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	322						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAAGAAGCGGCTGGATGTC	0.537																																					p.R322L		.											.	PHACTR3-93	0			c.G965T						.						53	57	56					20																	58349336		2203	4300	6503	SO:0001583	missense	116154	exon7			AGAAGCGGCTGGA	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.965G>T	20.37:g.58349336G>T	ENSP00000360054:p.Arg322Leu	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	117	27	NM_080672	0	0	0	0	0	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064226	0.36373	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32515	1.86;1.85;1.45;1.88;1.88;1.88;1.45	5.06	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.60455	1.87	0.58432	D	0.999992	B;B;B	0.30605	0.287;0.239;0.239	B;B;B	0.29862	0.108;0.075;0.075	T	0.08700	-1.0709	10	0.45353	T	0.12	-19.6685	12.7447	0.57276	0.0796:0.0:0.9204:0.0	.	211;322;319	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	319;322;211;281;281;281;211	ENSP00000353002:R319L;ENSP00000360054:R322L;ENSP00000379001:R211L;ENSP00000442483:R281L;ENSP00000347866:R281L;ENSP00000378998:R281L;ENSP00000354555:R211L	ENSP00000347866:R281L	R	+	2	0	PHACTR3	57782731	1.000000	0.71417	0.811000	0.32455	0.274000	0.26718	8.550000	0.90675	1.114000	0.41781	0.655000	0.94253	CGG	G|0.999;A|0.000		0.537	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		T	58349336	G	T	58349336	3	4	31	1	0	0	0	0	1	0	0	0	11850	1116	39	2	991	2	PHACTR3	20	58349336	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	519841	58349336	4676184	2201	7753											
C20orf177	63939	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	58519072	58519072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggcagagtaaatcccAagtaccccacgcttcttccc	6	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:58519072A>C	ENST00000358293.3	+	5	489	c.74A>C	c.(73-75)cAa>cCa	p.Q25P	FAM217B_ENST00000360816.3_Missense_Mutation_p.Q25P|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	25																	AGTAAATCCCAAGTACCCCAC	0.448																																					p.Q25P		.											.	.	0			c.A74C						.						51	52	51					20																	58519072		2203	4300	6503	SO:0001583	missense	63939	exon4			AATCCCAAGTACC	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.74A>C	20.37:g.58519072A>C	ENSP00000351040:p.Gln25Pro	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	134	25	NM_022106	0	0	0	0	0	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327941	0.24080	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.35605	1.3;1.3	5.46	3.17	0.36434	.	0.845929	0.10135	N	0.711549	T	0.30885	0.0779	L	0.59436	1.845	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.42649	-0.9439	10	0.62326	D	0.03	-8.2838	1.2335	0.01948	0.5421:0.1427:0.1595:0.1557	.	25	Q9NTX9	CT177_HUMAN	P	25	ENSP00000351040:Q25P;ENSP00000354056:Q25P	ENSP00000351040:Q25P	Q	+	2	0	C20orf177	57952467	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.296000	0.19083	0.358000	0.24211	0.533000	0.62120	CAA	.		0.448	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		C	58519072	A	C	58519072	3	2	31	1	0	0	0	0	1	0	0	0	2103	130	5	5	76	5	C20orf177	20	58519072	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	169736	58519072	4506448	2202	7754											
CDH4	1002	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	60448951	60448951	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcggctggcctggacCgagaggtgaggcggggtggg	23	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60448951C>A	ENST00000360469.5	+	7	1133	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	CDH4_ENST00000543233.1_Silent_p.R275R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	349	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGCCTGGACCGAGAGGTGAG	0.662																																					p.R349R		.											.	CDH4-282	0			c.C1045A						.						99	87	91					20																	60448951		2203	4300	6503	SO:0001819	synonymous_variant	1002	exon7			CTGGACCGAGAGG	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1045C>A	20.37:g.60448951C>A		Somatic	102	1		WXS	Illumina GAIIx	Phase_I	150	40	NM_001794	0	0	0	0	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																			.		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60448951	C	A	60448951	2	1	31	1	0	0	0	0	0	0	0	1	3119	644	23	2		2	CDH4	20	60448951	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1929879	60448951	2576569	2203	7755											
TAF4	6874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60581714	60581714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaccacggccgtgagcGcagtggtggcctgcgaggtg	17	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60581714G>A	ENST00000252996.4	-	7	2074	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	692					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCCGTGAGCGCAGTGGTGGC	0.706																																					p.A692V		.											.	TAF4-93	0			c.C2075T						.						21	27	25					20																	60581714		2199	4294	6493	SO:0001583	missense	6874	exon7			GTGAGCGCAGTGG	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2075C>T	20.37:g.60581714G>A	ENSP00000252996:p.Ala692Val	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	175	42	NM_003185	0	0	0	0	0	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443106	0.63067	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27890	1.65;1.64	5.46	5.46	0.80206	.	0.188517	0.45361	D	0.000370	T	0.39091	0.1065	L	0.40543	1.245	0.48236	D	0.999616	D	0.71674	0.998	P	0.53988	0.739	T	0.03483	-1.1032	10	0.17369	T	0.5	-20.5669	19.2974	0.94128	0.0:0.0:1.0:0.0	.	692	O00268	TAF4_HUMAN	V	692;556	ENSP00000252996:A692V;ENSP00000399091:A556V	ENSP00000252996:A692V	A	-	2	0	TAF4	60015109	1.000000	0.71417	0.308000	0.25141	0.847000	0.48162	6.952000	0.75989	2.550000	0.86006	0.563000	0.77884	GCG	.		0.706	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		A	60581714	G	A	60581714	3	1	31	1	0	0	0	0	1	0	0	0	15573	1087	38	1	1218	1	TAF4	20	60581714	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	132763	60581714	2443806	2204	7756											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60913072	60913072	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgaccctctgctcacCttggcagttggggaaaccat	10	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60913072C>A	ENST00000252999.3	-	14	1957	c.1891G>T	c.(1891-1893)Gca>Tca	p.A631S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	631	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCTGCTCACCTTGGCAGTTG	0.657																																					p.A631S		.											.	LAMA5-93	0			c.G1891T						.						36	37	36					20																	60913072		2195	4294	6489	SO:0001630	splice_region_variant	3911	exon14			GCTCACCTTGGCA	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.1891+1G>T	20.37:g.60913072C>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	236	119	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215357	0.22373	.	.	ENSG00000130702	ENST00000252999	T	0.54279	0.58	5.14	4.19	0.49359	EGF-like, laminin (2);	0.178076	0.48767	D	0.000169	T	0.47154	0.1430	L	0.52266	1.64	0.80722	D	1	B	0.20459	0.045	B	0.21917	0.037	T	0.26815	-1.0092	9	.	.	.	.	13.9356	0.64023	0.1264:0.7618:0.1118:0.0	.	631	O15230	LAMA5_HUMAN	S	631	ENSP00000252999:A631S	.	A	-	1	0	LAMA5	60346467	0.517000	0.26226	0.549000	0.28204	0.010000	0.07245	1.159000	0.31749	0.565000	0.29255	-1.371000	0.01190	GCA	.		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Missense_Mutation	A	60913072	C	A	60913072	5	1	31	1	0	0	0	0	0	0	1	0	8637	695	24	3	9464	3	LAMA5	20	60913072	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	331358	60913072	2112448	2205	7757											
OGFR	11054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61444261	61444261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacggggacccaggaagtgGgcggtcaggaccctggggag	21	9	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61444261G>T	ENST00000290291.6	+	7	1319	c.1294G>T	c.(1294-1296)Ggc>Tgc	p.G432C	OGFR_ENST00000370461.1_Missense_Mutation_p.G380C	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	432					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)					CCAGGAAGTGGGCGGTCAGGA	0.672																																					p.G432C		.											.	OGFR-68	0			c.G1294T						.						34	39	38					20																	61444261		2201	4299	6500	SO:0001583	missense	11054	exon7			GAAGTGGGCGGTC	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.1294G>T	20.37:g.61444261G>T	ENSP00000290291:p.Gly432Cys	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	123	32	NM_007346	0	0	0	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946725	0.34377	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.58358	1.27;0.34;0.69	2.58	1.61	0.23674	.	1.257190	0.05524	N	0.562667	T	0.53465	0.1798	L	0.40543	1.245	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.56042	0.79;0.79;0.79	T	0.37079	-0.9721	10	0.62326	D	0.03	.	1.4566	0.02387	0.2185:0.164:0.4501:0.1674	.	432;415;432	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	C	432;432;432;287;380	ENSP00000290291:G432C;ENSP00000359499:G432C;ENSP00000359491:G380C	ENSP00000290291:G432C	G	+	1	0	OGFR	60914706	0.053000	0.20554	0.004000	0.12327	0.070000	0.16714	1.612000	0.36889	0.293000	0.22520	0.555000	0.69702	GGC	.		0.672	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			T	61444261	G	T	61444261	3	4	31	1	0	0	0	0	1	0	0	0	10882	1232	43	3	1320	3	OGFR	20	61444261	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	531189	61444261	1581259	2206	7758											
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	61512594	61512594	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagaggctccccctccccctCaccggtctcagtggccaggc	11	19	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61512594C>A	ENST00000266070.4	-	16	5039	c.4714G>T	c.(4714-4716)Gag>Tag	p.E1572*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E1572*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1572					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)					CCCTCCCCCTCACCGGTCTCA	0.726																																					p.E1572X	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G4714T						.						14	19	17					20																	61512594		2043	4000	6043	SO:0001587	stop_gained	11083	exon16			CCCCCTCACCGGT	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.4714G>T	20.37:g.61512594C>A	ENSP00000266070:p.Glu1572*	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	42	9	NM_001193369	0	0	0	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	45	11.529958	0.99572	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.43	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-29.5468	6.4517	0.21908	0.0:0.5393:0.3485:0.1121	.	.	.	.	X	1572	.	ENSP00000266070:E1572X	E	-	1	0	DIDO1	60983039	0.883000	0.30277	0.010000	0.14722	0.011000	0.07611	3.563000	0.53784	0.618000	0.30179	0.467000	0.42956	GAG	.		0.726	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61512594	C	A	61512594	4	1	31	1	0	0	0	0	0	1	0	0	4536	835	29	3	2012	3	DIDO1	20	61512594	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	68333	61512594	1512926	2207	7759											
YTHDF1	54915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61834292	61834292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaaacgccgcgtttcTgttgcgtggggcaacccagc	12	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61834292T>C	ENST00000370339.3	-	4	1341	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R284G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	334							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						GCCGCGTTTCTGTTGCGTGGG	0.647																																					p.R334G		.											.	YTHDF1-92	0			c.A1000G						.						32	35	34					20																	61834292		2203	4298	6501	SO:0001583	missense	54915	exon4			CGTTTCTGTTGCG	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.1000A>G	20.37:g.61834292T>C	ENSP00000359364:p.Arg334Gly	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	72	21	NM_017798	0	0	0	0	0	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258418	0.23051	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.58797	0.31;0.31	5.0	1.25	0.21368	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.61387	1.9	0.50467	D	0.999879	B	0.21147	0.052	B	0.27887	0.084	T	0.58725	-0.7586	10	0.87932	D	0	-32.5312	13.8967	0.63775	0.0:0.0:0.4107:0.5893	.	334	Q9BYJ9	YTHD1_HUMAN	G	334;284;150	ENSP00000359364:R334G;ENSP00000359358:R284G	ENSP00000339489:R150G	R	-	1	2	YTHDF1	61304737	1.000000	0.71417	0.067000	0.19924	0.633000	0.38033	0.964000	0.29306	0.217000	0.20800	0.472000	0.43445	AGA	.		0.647	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		C	61834292	T	C	61834292	3	2	31	1	0	0	0	0	1	0	0	0	17547	1588	55	4	687	4	YTHDF1	20	61834292	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	321698	61834292	1191228	2208	7760											
BIRC7	79444	broad.mit.edu	37	chr20	61869765	61869765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcagttcctgctccGgtcaaaaggaagagactttg	11	10	2	1	rs199795769		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61869765G>T	ENST00000217169.3	+	3	681	c.467G>T	c.(466-468)cGg>cTg	p.R156L	BIRC7_ENST00000342412.6_Missense_Mutation_p.R156L|NKAIN4_ENST00000466885.1_5'Flank|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Missense_Mutation_p.R69L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	156					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)					TTCCTGCTCCGGTCAAAAGGA	0.627																																					p.R156L		.											.	BIRC7-659	0			c.G467T						.						62	68	66					20																	61869765		2203	4300	6503	SO:0001583	missense	79444	exon3			TGCTCCGGTCAAA	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.467G>T	20.37:g.61869765G>T	ENSP00000217169:p.Arg156Leu	Somatic	38	1		WXS	Illumina GAIIx	Phase_I	46	10	NM_139317	0	0	0	0	0	Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885857	0.17540	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.23147	4.0;4.0;1.92	3.83	-6.75	0.01738	Baculoviral inhibition of apoptosis protein repeat (2);	0.987677	0.08218	N	0.979604	T	0.12774	0.0310	N	0.24115	0.695	0.21675	N	0.999596	B;B;B	0.26635	0.146;0.155;0.133	B;B;B	0.20577	0.018;0.03;0.028	T	0.43861	-0.9365	10	0.05721	T	0.95	-13.1997	14.6351	0.68682	0.1906:0.0:0.8094:0.0	.	156;156;156	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	L	156;156;69	ENSP00000345213:R156L;ENSP00000217169:R156L;ENSP00000378717:R69L	ENSP00000217169:R156L	R	+	2	0	BIRC7	61340210	0.000000	0.05858	0.096000	0.21009	0.282000	0.26991	-1.221000	0.02968	-1.057000	0.03201	-0.648000	0.03929	CGG	.		0.627	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		T	61869765	G	T	61869765	3	4	31	1	0	0	0	0	1	0	0	0	1441	1116	39	2	477	2	BIRC7	20	61869765	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	35473	61869765	1155755	2209	7761											
BIRC7	79444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61869820	61869820	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagactcactcccagctgctGggctcctgggtgagcgccac	13	15	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61869820G>T	ENST00000217169.3	+	3	736	c.522G>T	c.(520-522)ctG>ctT	p.L174L	BIRC7_ENST00000342412.6_Silent_p.L174L|NKAIN4_ENST00000466885.1_5'Flank|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Silent_p.L87L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	174					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)					CCCAGCTGCTGGGCTCCTGGG	0.617																																					p.L174L		.											.	BIRC7-659	0			c.G522T						.						59	62	61					20																	61869820		2203	4300	6503	SO:0001819	synonymous_variant	79444	exon3			GCTGCTGGGCTCC	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.522G>T	20.37:g.61869820G>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	88	42	NM_139317	0	0	0	0	0	Q9BQV0|Q9H2A8|Q9HAP7	Silent	SNP	ENST00000217169.3	37	CCDS13513.1																																																																																			.		0.617	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		T	61869820	G	T	61869820	2	4	31	1	0	0	0	0	0	0	0	1	1441	1335	47	3		3	BIRC7	20	61869820	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	55	61869820	1155700	2210	7762											
ARFGAP1	55738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61919061	61919061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgacagctggacgtgcgcgGacacctccaccgagaggagg	16	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61919061G>A	ENST00000370283.4	+	13	1197	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.D240N|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.D308N|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.D287N|ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.D361N|MIR4326_ENST00000582203.1_RNA	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	353					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GACGTGCGCGGACACCTCCAC	0.652																																					p.D361N		.											.	ARFGAP1-91	0			c.G1081A						.						31	31	31					20																	61919061		2196	4296	6492	SO:0001583	missense	55738	exon14			TGCGCGGACACCT	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1057G>A	20.37:g.61919061G>A	ENSP00000359306:p.Asp353Asn	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	167	39	NM_175609	0	0	0	0	0	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660465	0.67586	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T	0.55930	1.12;0.63;0.64;0.49;1.31	4.95	4.0	0.46444	.	0.184566	0.37393	N	0.002103	T	0.58524	0.2128	L	0.57536	1.79	0.50632	D	0.999882	P;P;P;P	0.49559	0.925;0.917;0.857;0.912	P;P;P;P	0.52646	0.616;0.51;0.51;0.705	T	0.55970	-0.8056	10	0.27082	T	0.32	-10.0205	13.6799	0.62476	0.0755:0.0:0.9245:0.0	.	240;308;353;361	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	N	353;287;109;308;240;361	ENSP00000359306:D353N;ENSP00000449800:D287N;ENSP00000430500:D308N;ENSP00000443716:D240N;ENSP00000314615:D361N	ENSP00000314615:D361N	D	+	1	0	ARFGAP1	61389506	1.000000	0.71417	0.005000	0.12908	0.195000	0.23768	6.486000	0.73629	1.207000	0.43291	0.462000	0.41574	GAC	.		0.652	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		A	61919061	G	A	61919061	3	1	31	1	0	0	0	0	1	0	0	0	849	1174	41	3	1137	3	ARFGAP1	20	61919061	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	49241	61919061	1106459	2211	7763											
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	10920084	10920084	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaaaaagaaaacttacCtgagaaggagtttttactcc	6	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:10920084C>A	ENST00000361285.4	-	19	1499	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	TPTE_ENST00000342420.5_Splice_Site_p.Q352H|TPTE_ENST00000298232.7_Splice_Site_p.Q372H|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	390	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)	p.Q372H(1)		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)		GAAAACTTACCTGAGAAGGAG	0.378																																					p.Q390H		.											.	TPTE-344	1	Substitution - Missense(1)	lung(1)	c.G1170T						.						68	68	68					21																	10920084		2202	4300	6502	SO:0001630	splice_region_variant	7179	exon19			ACTTACCTGAGAA	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.1170+1G>T	21.37:g.10920084C>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	19	7	NM_199261	0	0	0	0	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.59	1.393761	0.25205	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99462	-5.94;-5.94;-5.94	2.32	1.41	0.22369	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.87900	2.915	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	0.99187	1.0869	9	.	.	.	-18.4997	4.892	0.13731	0.0:0.8108:0.0:0.1892	.	352;372;390	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	372;390;352	ENSP00000298232:Q372H;ENSP00000355208:Q390H;ENSP00000344441:Q352H	.	Q	-	3	2	TPTE	9941955	1.000000	0.71417	0.994000	0.49952	0.320000	0.28249	2.807000	0.47955	0.317000	0.23160	0.184000	0.17185	CAG	.		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	A	10920084	C	A	10920084	5	1	31	1	0	0	0	0	0	0	1	0	16478	695	24	3	509	3	TPTE	21	10920084	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		10920084	37209811	2212	7764											
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	10944670	10944670	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttatgtttcatacctGggaatattcctaagcaactt	6	8	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:10944670G>T	ENST00000361285.4	-	11	893	c.564C>A	c.(562-564)ccC>ccA	p.P188P	TPTE_ENST00000342420.5_Silent_p.P150P|TPTE_ENST00000298232.7_Silent_p.P170P|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					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)		TTTCATACCTGGGAATATTCC	0.289																																					p.P188P		.											.	TPTE-344	0			c.C564A						.						142	159	153					21																	10944670		2203	4298	6501	SO:0001819	synonymous_variant	7179	exon11			ATACCTGGGAATA	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.564C>A	21.37:g.10944670G>T		Somatic	359	0		WXS	Illumina GAIIx	Phase_I	304	29	NM_199261	0	0	0	0	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																			.		0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10944670	G	T	10944670	2	4	31	1	0	0	0	0	0	0	0	1	16478	1335	47	3		3	TPTE	21	10944670	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24586	10944670	37185225	2213	7765											
BAGE2	85319	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	11058188	11058188	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggagcttggtcaatgtgttCtggacaaagcaggaagatgt	14	5	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:11058188C>A	ENST00000470054.1	-	0	459							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)		TCAATGTGTTCTGGACAAAGC	0.388																																					p.Q84H		.											.	.	0			c.G252T						.						95	77	82					21																	11058188		692	1591	2283			85319	exon3			TGTGTTCTGGACA	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.11058188C>A		Somatic	249	0		WXS	Illumina GAIIx	Phase_I	220	22	NM_182482	0	0	0	0	0	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																				.		0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11058188	C	A	11058188	1	1	31	0	1	0	0	0	0	0	0	0	1293	912	32	3		3	BAGE2	21	11058188	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	113518	11058188	37071707	2214	7766											
TMPRSS15	5651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	19666953	19666954	+	Missense_Mutation	DNP	CC	CC	AT													ctgtaaccgaatcaaggaatCctgtaaacactgttgactgt							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:19666953_19666954CC>AT	ENST00000284885.3	-	20	2310_2311	c.2277_2278GG>AT	c.(2275-2280)caGGat>caATat	p.D760Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	760	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCAAGGAATCCTGTAAACACT	0.282																																					p.D760Y		.											.	TMPRSS15-160	0			c.G2277A						.																																			SO:0001583	missense	5651	exon20			GGAATCCTGTAAA		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2277_2278delinsAT	21.37:g.19666953_19666954delinsAT	ENSP00000284885:p.Asp760Tyr	Somatic	277	0		WXS	Illumina GAIIx	Phase_I	227	0	NM_002772	0	0	0	0	0	Q2NKL7	Missense_Mutation	DNP	ENST00000284885.3	37	CCDS13571.1																																																																																			.		0.282	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		AT	19666954	CC	AT	19666953	3	1	31	1	0	0	0	0	1	0	0	0	16293	855	30	3	805	3	TMPRSS15	21	19666953	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	8608765	19666953	28462942	2215	7767											
GRIK1	2897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	31311813	31311813	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgaggagtgtgccgtgCtccatcttcctagcttctta	12	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31311813C>G	ENST00000399907.1	-	1	417	c.6G>C	c.(4-6)gaG>gaC	p.E2D	GRIK1_ENST00000389124.2_Missense_Mutation_p.E2D|GRIK1_ENST00000327783.4_Missense_Mutation_p.E2D|GRIK1_ENST00000389125.3_Missense_Mutation_p.E2D|GRIK1_ENST00000399909.1_Missense_Mutation_p.E2D|GRIK1_ENST00000309434.7_Missense_Mutation_p.E2D|GRIK1_ENST00000399913.1_Missense_Mutation_p.E2D|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.E2D|GRIK1_ENST00000399914.1_Missense_Mutation_p.E2D	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	2					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTGTGCCGTGCTCCATCTTCC	0.627																																					p.E2D		.											.	GRIK1-137	0			c.G6C						.						94	73	80					21																	31311813		2203	4300	6503	SO:0001583	missense	2897	exon1			GCCGTGCTCCATC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.6G>C	21.37:g.31311813C>G	ENSP00000382791:p.Glu2Asp	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	99	69	NM_175611	0	0	0	0	0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516518	0.44763	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.78;2.79;2.73;2.79;2.74;2.77;2.77;2.77	4.03	4.03	0.46877	.	0.546269	0.14883	N	0.292824	T	0.09335	0.0230	N	0.14661	0.345	0.23416	N	0.997724	B;B;B;B;B	0.17667	0.023;0.005;0.023;0.005;0.009	B;B;B;B;B	0.11329	0.004;0.003;0.004;0.003;0.006	T	0.16512	-1.0400	10	0.62326	D	0.03	.	11.9726	0.53071	0.0:1.0:0.0:0.0	.	2;2;2;2;2	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	D	2	ENSP00000327687:E2D;ENSP00000373777:E2D;ENSP00000382797:E2D;ENSP00000382798:E2D;ENSP00000446326:E2D;ENSP00000373776:E2D;ENSP00000382791:E2D;ENSP00000382793:E2D;ENSP00000311646:E2D	ENSP00000311646:E2D	E	-	3	2	GRIK1	30233684	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.459000	0.53021	2.522000	0.85027	0.462000	0.41574	GAG	.		0.627	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			G	31311813	C	G	31311813	3	3	31	1	0	0	0	0	1	0	0	0	6800	796	28	3	2978	3	GRIK1	21	31311813	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	11644860	31311813	16818082	2216	7768											
KRTAP24-1	643803	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	31655215	31655215	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggtactgcagacaccAggatagcctgtagtagacat	12	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31655215A>T	ENST00000340345.4	-	1	61	c.36T>A	c.(34-36)ccT>ccA	p.P12P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	12						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCAGACACCAGGATAGCCTG	0.488																																					p.P12P		.											.	KRTAP24-1-68	0			c.T36A						.						40	41	41					21																	31655215		2014	4187	6201	SO:0001819	synonymous_variant	643803	exon1			GACACCAGGATAG	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.36T>A	21.37:g.31655215A>T		Somatic	219	2		WXS	Illumina GAIIx	Phase_I	276	181	NM_001085455	0	0	0	0	0	Q1XDX0	Silent	SNP	ENST00000340345.4	37	CCDS42915.1																																																																																			.		0.488	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		T	31655215	A	T	31655215	2	4	31	1	0	0	0	0	0	0	0	1	8570	175	7	5		5	KRTAP24-1	21	31655215	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	343402	31655215	16474680	2217	7769											
KRTAP13-3	337960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	31797786	31797786	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctaggtggaaaatagattgGatggcagaatctggatctat	12	4	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31797786G>C	ENST00000390690.2	-	1	500	c.445C>G	c.(445-447)Cca>Gca	p.P149A		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	149						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AAATAGATTGGATGGCAGAAT	0.433																																					p.P149A		.											.	KRTAP13-3-92	0			c.C445G						.						56	55	55					21																	31797786		1926	4162	6088	SO:0001583	missense	337960	exon1			AGATTGGATGGCA	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.445C>G	21.37:g.31797786G>C	ENSP00000375109:p.Pro149Ala	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	111	83	NM_181622	0	0	0	0	0	Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	g	12.68	2.011976	0.35511	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.10573	2.86	4.03	1.22	0.21188	.	0.175309	0.26742	U	0.022739	T	0.23014	0.0556	M	0.82132	2.575	0.09310	N	1	D	0.58970	0.984	P	0.56612	0.802	T	0.04467	-1.0949	10	0.87932	D	0	0.0569	6.4079	0.21674	0.3125:0.0:0.6875:0.0	.	149	Q3SY46	KR133_HUMAN	A	149;139	ENSP00000375109:P149A	ENSP00000375109:P149A	P	-	1	0	KRTAP13-3	30719657	0.279000	0.24239	0.003000	0.11579	0.002000	0.02628	1.615000	0.36922	0.290000	0.22444	-0.257000	0.10917	CCA	.		0.433	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			C	31797786	G	C	31797786	3	2	31	1	0	0	0	0	1	0	0	0	8551	1174	41	3	77	3	KRTAP13-3	21	31797786	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	142571	31797786	16332109	2218	7770											
KRTAP15-1	254950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	31812927	31812928	+	Missense_Mutation	DNP	CC	CC	AA													cagactaactacataagatcCcttggatgtggaaacactgg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31812927_31812928CC>AA	ENST00000334067.3	+	1	331_332	c.282_283CC>AA	c.(280-285)tcCCtt>tcAAtt	p.L95I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	95						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACATAAGATCCCTTGGATGTGG	0.505																																					p.L95I		.											.	KRTAP15-1-90	0			c.C283A						.																																			SO:0001583	missense	254950	exon1			AGATCCCTTGGAT	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	Exception_encountered	21.37:g.31812927_31812928delinsAA	ENSP00000334866:p.Leu95Ile	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	119	35	NM_181623	0	0	0	0	0	Q2M3F4	Missense_Mutation	DNP	ENST00000334067.3	37	CCDS13593.1																																																																																			.		0.505	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			AA	31812928	CC	AA	31812927	3	1	31	1	0	0	0	0	1	0	0	0	8553	610	22	3	284	3	KRTAP15-1	21	31812927	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	15141	31812927	16316968	2219	7771											
KRTAP11-1	337880	ucsc.edu;bcgsc.ca	37	chr21	32253540	32253540	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagacaaaggtgagcggccGgctgtaggtagttgagcagg	18	6	0	3	rs375660290		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:32253540G>T	ENST00000332378.4	-	1	334	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	102						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTGAGCGGCCGGCTGTAGGTA	0.562																																					p.R102R		.											.	KRTAP11-1-91	0			c.C304A						.						75	76	76					21																	32253540		2203	4300	6503	SO:0001819	synonymous_variant	337880	exon1			GCGGCCGGCTGTA	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.304C>A	21.37:g.32253540G>T		Somatic	289	3		WXS	Illumina GAIIx	Phase_I	363	261	NM_175858	0	0	0	0	0	A1L4I8	Silent	SNP	ENST00000332378.4	37	CCDS13608.1																																																																																			.		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			T	32253540	G	T	32253540	2	4	31	1	0	0	0	0	0	0	0	1	8544	1115	39	2		2	KRTAP11-1	21	32253540	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	440613	32253540	15876355	2220	7772											
DSCR6	53820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	38385914	38385914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgggtttcagcatcctGtaaggtaatatacgacttca	8	9	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:38385914G>T	ENST00000329553.2	+	3	445	c.235G>T	c.(235-237)Gta>Tta	p.V79L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	79	Ripply homology domain.				heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V79L(1)									TCAGCATCCTGTAAGGTAATA	0.388																																					p.V79L		.											.	DSCR6-153	1	Substitution - Missense(1)	kidney(1)	c.G235T						.						108	89	95					21																	38385914		2203	4300	6503	SO:0001583	missense	53820	exon3			CATCCTGTAAGGT	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.235G>T	21.37:g.38385914G>T	ENSP00000331734:p.Val79Leu	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	109	81	NM_018962	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021125	0.75275	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.49	4.49	0.54785	.	0.184400	0.33005	N	0.005385	T	0.78666	0.4319	M	0.80332	2.49	0.45295	D	0.998292	D	0.76494	0.999	D	0.80764	0.994	T	0.81583	-0.0866	9	0.72032	D	0.01	-6.5541	13.4335	0.61071	0.0:0.0:1.0:0.0	.	79	P57055	DSCR6_HUMAN	L	79	.	ENSP00000331734:V79L	V	+	1	0	DSCR6	37307784	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.150000	0.50662	2.433000	0.82419	0.462000	0.41574	GTA	.		0.388	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			T	38385914	G	T	38385914	3	4	31	1	0	0	0	0	1	0	0	0	4787	1377	48	3	245	3	DSCR6	21	38385914	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6132374	38385914	9743981	2221	7773											
DSCAM	1826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	41719682	41719682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccccgtcacttttgacCatgtgatccattataaggtt	8	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:41719682C>A	ENST00000400454.1	-	6	1602	c.1125G>T	c.(1123-1125)atG>atT	p.M375I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	375	Ig-like C2-type 4.				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)				CACTTTTGACCATGTGATCCA	0.512																																					p.M375I	Melanoma(134;970 1778 1785 21664 32388)	.											.	DSCAM-101	0			c.G1125T						.						310	281	291					21																	41719682		1976	4154	6130	SO:0001583	missense	1826	exon6			TTTGACCATGTGA	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.1125G>T	21.37:g.41719682C>A	ENSP00000383303:p.Met375Ile	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	152	115	NM_001271534	0	0	0	0	0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279115	0.80692	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.62498	0.02;0.02	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	N	0.20881	0.62	0.53005	D	0.999963	B	0.33299	0.407	B	0.43728	0.429	T	0.58967	-0.7542	10	0.36615	T	0.2	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	375	O60469	DSCAM_HUMAN	I	375;127	ENSP00000383303:M375I;ENSP00000385342:M127I	ENSP00000383303:M375I	M	-	3	0	DSCAM	40641552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.904000	0.69886	2.344000	0.79699	0.655000	0.94253	ATG	.		0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41719682	C	A	41719682	3	1	31	1	0	0	0	0	1	0	0	0	4782	594	21	3	5025	3	DSCAM	21	41719682	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3333768	41719682	6410213	2222	7774											
WDR4	10785	bcgsc.ca	37	chr21	44296862	44296862	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcactgcagtcatagatgaaGaggctgtcatcatcactaaa	9	9	4	3	rs373268616		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:44296862G>C	ENST00000398208.2	-	2	164	c.105C>G	c.(103-105)ctC>ctG	p.L35L	WDR4_ENST00000330317.2_Silent_p.L35L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CATAGATGAAGAGGCTGTCAT	0.358																																					p.L35L		.											.	WDR4-91	0			c.C105G						.						92	85	87					21																	44296862		2203	4300	6503	SO:0001819	synonymous_variant	10785	exon2			GATGAAGAGGCTG	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.105C>G	21.37:g.44296862G>C		Somatic	35	1		WXS	Illumina GAIIx	Phase_I	28	19	NM_018669	0	0	0	0	0		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																			.		0.358	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			C	44296862	G	C	44296862	2	2	31	1	0	0	0	0	0	0	0	1	17342	929	33	3		3	WDR4	21	44296862	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2577180	44296862	3833033	2223	7775											
TRPM2	7226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45795727	45795727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccagggcagcttcccCgccgagtacatactggatga	10	15	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45795727C>T	ENST00000397928.1	+	6	1228	c.783C>T	c.(781-783)ccC>ccT	p.P261P	TRPM2_ENST00000300481.9_Silent_p.P261P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P261P|TRPM2_ENST00000397932.2_Silent_p.P261P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	261					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGCTTCCCCGCCGAGTACA	0.607																																					p.P261P		.											.	TRPM2-92	0			c.C783T						.						78	65	69					21																	45795727		2203	4300	6503	SO:0001819	synonymous_variant	7226	exon6			CTTCCCCGCCGAG	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.783C>T	21.37:g.45795727C>T		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	161	120	NM_003307	0	0	0	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																			.		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45795727	C	T	45795727	2	4	31	1	0	0	0	0	0	0	0	1	16634	639	23	1		1	TRPM2	21	45795727	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1498865	45795727	2334168	2224	7776											
TRPM2	7226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45845667	45845667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctaccccaactgccCtgtcacgcgcttccccgtgc	6	22	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45845667C>A	ENST00000397928.1	+	25	4197	c.3752C>A	c.(3751-3753)cCt>cAt	p.P1251H	TRPM2_ENST00000300481.9_Missense_Mutation_p.P1231H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.P1251H|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.P1301H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1251					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAACTGCCCTGTCACGCGC	0.706																																					p.P1251H		.											.	TRPM2-92	0			c.C3752A						.						32	32	32					21																	45845667		2200	4299	6499	SO:0001583	missense	7226	exon25			ACTGCCCTGTCAC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3752C>A	21.37:g.45845667C>A	ENSP00000381023:p.Pro1251His	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	259	171	NM_003307	0	0	0	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	0.391	-0.923596	0.02377	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	3.66	0.498	0.16908	NUDIX hydrolase domain-like (1);	0.822754	0.10885	N	0.623305	T	0.52725	0.1752	N	0.16478	0.41	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.36089	-0.9762	10	0.41790	T	0.15	-2.1465	2.9655	0.05907	0.4776:0.3025:0.1232:0.0967	.	1301;1037;1251	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1251;1251;1231;1301;29	ENSP00000300482:P1251H;ENSP00000381023:P1251H;ENSP00000300481:P1231H;ENSP00000381026:P1301H	ENSP00000300481:P1231H	P	+	2	0	TRPM2	44670095	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.366000	0.07563	-0.150000	0.11195	0.313000	0.20887	CCT	.		0.706	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45845667	C	A	45845667	3	1	31	1	0	0	0	0	1	0	0	0	16634	681	24	3	3850	3	TRPM2	21	45845667	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	49940	45845667	2284228	2225	7777											
C21orf29	54084	ucsc.edu;bcgsc.ca	37	chr21	45987802	45987802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactgagagctggagtcccCgtgcaccgtgaacctgaact	11	13	0	3	rs151001222	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45987802C>A	ENST00000323084.4	-	2	235	c.170G>T	c.(169-171)cGg>cTg	p.R57L	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	57					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGGAGTCCCCGTGCACCGTG	0.587																																					p.R57L		.											.	TSPEAR-244	0			c.G170T						.						71	68	69					21																	45987802		2203	4300	6503	SO:0001583	missense	54084	exon2			AGTCCCCGTGCAC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.170G>T	21.37:g.45987802C>A	ENSP00000321987:p.Arg57Leu	Somatic	139	2		WXS	Illumina GAIIx	Phase_I	189	150	NM_144991	0	0	0	0	0		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	7.854	0.724715	0.15439	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.02158	4.42	4.68	2.83	0.33086	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.252024	0.38897	N	0.001530	T	0.03783	0.0107	M	0.74881	2.28	0.45867	D	0.998726	B	0.17667	0.023	B	0.17722	0.019	T	0.32666	-0.9898	10	0.37606	T	0.19	-19.6951	8.1312	0.31029	0.1576:0.757:0.0:0.0854	.	57	Q8WU66	TSEAR_HUMAN	L	57	ENSP00000321987:R57L	ENSP00000321987:R57L	R	-	2	0	TSPEAR	44812230	0.538000	0.26394	0.224000	0.23877	0.215000	0.24574	1.360000	0.34125	0.379000	0.24794	0.591000	0.81541	CGG	C|0.998;T|0.002		0.587	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45987802	C	A	45987802	3	1	31	1	0	0	0	0	1	0	0	0	2131	652	23	2	1883	2	C21orf29	21	45987802	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	142135	45987802	2142093	2226	7778											
KRTAP10-9	386676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	46047799	46047799	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccctcctctgccgcccTgtgtgcaggcccgcctgctg	12	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:46047799T>G	ENST00000397911.3	+	1	760	c.711T>G	c.(709-711)ccT>ccG	p.P237P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	237	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCTGCCGCCCTGTGTGCAGGC	0.687																																					p.P237P		.											.	.	0			c.T711G						.						90	109	102					21																	46047799		2203	4300	6503	SO:0001819	synonymous_variant	386676	exon1			CCGCCCTGTGTGC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.711T>G	21.37:g.46047799T>G		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	189	144	NM_198690	0	0	0	0	0	A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	CCDS42961.1																																																																																			.		0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			G	46047799	T	G	46047799	2	3	31	1	0	0	0	0	0	0	0	1	8543	1567	55	5		5	KRTAP10-9	21	46047799	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	59997	46047799	2082096	2227	7779											
COL6A1	1291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	47423043	47423043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttacagacaagaagtGtccagattacacctgcccca	6	13	1	3	rs536370523		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:47423043G>T	ENST00000361866.3	+	34	2558	c.2444G>T	c.(2443-2445)tGt>tTt	p.C815F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	815	C-terminal globular domain.				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)		GACAAGAAGTGTCCAGATTAC	0.627													G|||	1	0.000199681	0	0	5008	,	,		15215	0		0.001	False		,,,				2504	0				p.C815F		.											.	COL6A1-91	0			c.G2444T						.						79	78	79					21																	47423043		2203	4300	6503	SO:0001583	missense	1291	exon34			AGAAGTGTCCAGA	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.2444G>T	21.37:g.47423043G>T	ENSP00000355180:p.Cys815Phe	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	184	125	NM_001848	0	0	0	0	0	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202210	0.58234	.	.	ENSG00000142156	ENST00000361866	D	0.90788	-2.73	4.54	4.54	0.55810	.	0.121175	0.56097	D	0.000022	D	0.91915	0.7440	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.91868	0.5505	10	0.40728	T	0.16	-11.6256	17.297	0.87172	0.0:0.0:1.0:0.0	.	815	P12109	CO6A1_HUMAN	F	815	ENSP00000355180:C815F	ENSP00000355180:C815F	C	+	2	0	COL6A1	46247471	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	8.067000	0.89488	2.079000	0.62486	0.471000	0.43371	TGT	.		0.627	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		T	47423043	G	T	47423043	3	4	31	1	0	0	0	0	1	0	0	0	3706	1377	48	3	2578	3	COL6A1	21	47423043	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1375244	47423043	706852	2228	7780											
CLTCL1	8218	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	19220842	19220842	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcctctgagcactccagCtgtggtatgccaagggacaa	11	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:19220842C>A	ENST00000263200.10	-	9	1441		c.e9-1		CLTCL1_ENST00000353891.5_Splice_Site|CLTCL1_ENST00000427926.1_Splice_Site	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1						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)					AGCACTCCAGCTGTGGTATGC	0.552			T	?	ALCL																																.		.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1-230	0			c.1369-1G>T						.						67	67	67					22																	19220842		2012	4158	6170	SO:0001630	splice_region_variant	8218	exon10			CTCCAGCTGTGGT		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.1369-1G>T	22.37:g.19220842C>A		Somatic	81	1		WXS	Illumina GAIIx	Phase_I	89	68	NM_001835	0	0	0	0	0	B7Z7U5|Q14017|Q15808|Q15809	Splice_Site	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452246	0.63290	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4728	0.84119	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLTCL1	17600842	1.000000	0.71417	0.981000	0.43875	0.764000	0.43329	6.850000	0.75420	2.177000	0.69029	0.591000	0.81541	.	.		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	Intron	A	19220842	C	A	19220842	5	1	31	1	0	0	0	0	0	0	1	0	3574	811	28	3	3650	3	CLTCL1	22	19220842	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10		19220842	32083724	2229	7781											
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	43	9	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	31	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5KB-01A-11D-A30A-10	2123124	21343966	29960600	2230	7782											
PRAME	23532	ucsc.edu;bcgsc.ca	37	chr22	22890510	22890510	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagttaggcatgaaacagggGcacaggatgggctccgggtc	16	8	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:22890510G>T	ENST00000398741.1	-	6	1815	c.1509C>A	c.(1507-1509)tgC>tgA	p.C503*	PRAME_ENST00000424204.2_Nonsense_Mutation_p.C487*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.C487*|PRAME_ENST00000543184.1_Nonsense_Mutation_p.C503*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.C503*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.C503*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.C503*|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	503	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGAAACAGGGGCACAGGATGG	0.527																																					p.C503X	Melanoma(73;1707 1838 15168 27201)	.											.	PRAME-515	0			c.C1509A						.						165	159	161					22																	22890510		2203	4300	6503	SO:0001587	stop_gained	23532	exon6			ACAGGGGCACAGG	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1509C>A	22.37:g.22890510G>T	ENSP00000381726:p.Cys503*	Somatic	126	2		WXS	Illumina GAIIx	Phase_I	122	79	NM_206954	0	0	0	0	0	B2R6Y7|O43481|Q8IXN8	Nonsense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983593	0.93044	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	.	.	.	3.67	1.34	0.21922	.	0.190146	0.35646	N	0.003065	.	.	.	.	.	.	0.25665	N	0.985958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3306	0.11062	0.1474:0.2253:0.6272:0.0	.	.	.	.	X	503;503;503;503;487;503;487	.	ENSP00000381726:C503X	C	-	3	2	PRAME	21220510	0.988000	0.35896	0.970000	0.41538	0.168000	0.22595	-0.010000	0.12743	0.419000	0.25927	-0.189000	0.12847	TGC	.		0.527	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		T	22890510	G	T	22890510	4	4	31	1	0	0	0	0	0	1	0	0	12466	1195	42	3	24	3	PRAME	22	22890510	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1546544	22890510	28414056	2231	7783											
PRAME	23532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	22890729	22890729	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagattgctcagcccgatGaggtgctgcaggagactctg	14	10	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:22890729G>T	ENST00000398741.1	-	6	1596	c.1290C>A	c.(1288-1290)ctC>ctA	p.L430L	PRAME_ENST00000424204.2_Silent_p.L414L|PRAME_ENST00000539862.1_Silent_p.L414L|PRAME_ENST00000543184.1_Silent_p.L430L|PRAME_ENST00000398743.2_Silent_p.L430L|PRAME_ENST00000405655.3_Silent_p.L430L|PRAME_ENST00000402697.1_Silent_p.L430L|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	430	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCAGCCCGATGAGGTGCTGCA	0.562																																					p.L430L	Melanoma(73;1707 1838 15168 27201)	.											.	PRAME-515	0			c.C1290A						.						106	94	98					22																	22890729		2203	4300	6503	SO:0001819	synonymous_variant	23532	exon6			CCCGATGAGGTGC	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1290C>A	22.37:g.22890729G>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	70	40	NM_206954	0	0	0	0	0	B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	CCDS13801.1																																																																																			.		0.562	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		T	22890729	G	T	22890729	2	4	31	1	0	0	0	0	0	0	0	1	12466	1277	45	3		3	PRAME	22	22890729	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	219	22890729	28413837	2232	7784											
MYO18B	84700	ucsc.edu;bcgsc.ca	37	chr22	26164759	26164759	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagagcccacaaacacGgtggaaaaggggaatgtctc	14	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26164759G>T	ENST00000407587.2	+	4	1045	c.876G>T	c.(874-876)acG>acT	p.T292T	MYO18B_ENST00000536101.1_Silent_p.T292T|MYO18B_ENST00000335473.7_Silent_p.T292T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	292						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAAACACGGTGGAAAAGG	0.607																																					p.T292T		.											.	MYO18B-142	0			c.G876T						.						21	24	23					22																	26164759		1976	4153	6129	SO:0001819	synonymous_variant	84700	exon4			AAACACGGTGGAA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.876G>T	22.37:g.26164759G>T		Somatic	161	3		WXS	Illumina GAIIx	Phase_I	146	92	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				.		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26164759	G	T	26164759	2	4	31	1	0	0	0	0	0	0	0	1	10104	1103	39	2		2	MYO18B	22	26164759	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3274030	26164759	25139807	2233	7785											
MYO18B	84700	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	26422797	26422797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttaccagacgactggggCctccacactaaggaggggca	12	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26422797C>A	ENST00000407587.2	+	43	7029	c.6860C>A	c.(6859-6861)gCc>gAc	p.A2287D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2286D|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2286D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2286						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGACTGGGGCCTCCACACTA	0.642																																					p.A2286D		.											.	MYO18B-142	0			c.C6857A						.						17	21	20					22																	26422797		1892	4101	5993	SO:0001583	missense	84700	exon43			CTGGGGCCTCCAC	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6860C>A	22.37:g.26422797C>A	ENSP00000386096:p.Ala2287Asp	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	101	68	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.55|18.55	3.649307|3.649307	0.67358|0.67358	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.93488|.	-3.21;-3.21;-3.23|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.48767|.	D|.	0.000177|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.66939|0.66939	2.045|2.045	0.44937|0.44937	D|D	0.997958|0.997958	D;D;D;D;D|.	0.63046|.	0.985;0.986;0.986;0.992;0.992|.	P;P;P;D;D|.	0.64410|.	0.893;0.843;0.843;0.925;0.925|.	T|T	0.72918|0.72918	-0.4146|-0.4146	10|5	0.87932|.	D|.	0|.	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1799;2288;2286;2287;2286|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|T	2286;2286;2287|236	ENSP00000441229:A2286D;ENSP00000334563:A2286D;ENSP00000386096:A2287D|.	ENSP00000334563:A2286D|.	A|P	+|+	2|1	0|0	MYO18B|MYO18B	24752797|24752797	0.995000|0.995000	0.38212|0.38212	0.922000|0.922000	0.36590|0.36590	0.593000|0.593000	0.36681|0.36681	3.775000|3.775000	0.55349|0.55349	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	GCC|CCT	.		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26422797	C	A	26422797	3	1	31	1	0	0	0	0	1	0	0	0	10104	739	26	3	7023	3	MYO18B	22	26422797	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	258038	26422797	24881769	2234	7786											
SEZ6L	23544	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	26761520	26761520	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccactggaacgggcccctgCccgtgtgtaaaggtaaagaa	12	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26761520C>G	ENST00000248933.6	+	13	2877	c.2782C>G	c.(2782-2784)Ccc>Gcc	p.P928A	SEZ6L_ENST00000360929.3_Missense_Mutation_p.P864A|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P701A|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P928A|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.P125A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P928A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	928	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGCCCCTGCCCGTGTGTAA	0.557																																					p.P928A		.											.	SEZ6L-95	0			c.C2782G						.						59	55	56					22																	26761520		2203	4300	6503	SO:0001583	missense	23544	exon13			CCCCTGCCCGTGT	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2782C>G	22.37:g.26761520C>G	ENSP00000248933:p.Pro928Ala	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	117	81	NM_021115	0	0	0	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230561	0.58777	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000402979;ENST00000411842	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000040	D	0.89801	0.6820	M	0.86953	2.85	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;0.999;0.999;1.0;0.999	D	0.91160	0.4960	10	0.87932	D	0	.	18.0747	0.89423	0.0:1.0:0.0:0.0	.	928;928;864;928;928	B7ZLJ8;B7ZLJ6;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;SE6L1_HUMAN	A	928;928;864;928;701;125	ENSP00000384772:P928A;ENSP00000437037:P928A;ENSP00000354185:P864A;ENSP00000248933:P928A;ENSP00000384733:P701A;ENSP00000397274:P125A	ENSP00000248933:P928A	P	+	1	0	SEZ6L	25091520	1.000000	0.71417	0.999000	0.59377	0.115000	0.19883	7.096000	0.76960	2.735000	0.93741	0.655000	0.94253	CCC	.		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			G	26761520	C	G	26761520	3	3	31	1	0	0	0	0	1	0	0	0	14188	739	26	3	2832	3	SEZ6L	22	26761520	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	338723	26761520	24543046	2235	7787											
MN1	4330	hgsc.bcm.edu	37	chr22	28196123	28196123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcctccggctgcgccgcCgtagccgagcaggcgacccc	14	19	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:28196123C>A	ENST00000302326.4	-	1	1363	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	137					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTGCGCCGCCGTAGCCGAGC	0.721			T	ETV6	"AML, meningioma"																																p.G137C		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.G409T						.						4	5	5					22																	28196123		1358	3336	4694	SO:0001583	missense	4330	exon1			CGCCGCCGTAGCC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.409G>T	22.37:g.28196123C>A	ENSP00000304956:p.Gly137Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097416	0.56075	.	.	ENSG00000169184	ENST00000302326	T	0.63255	-0.03	4.96	3.94	0.45596	.	0.207947	0.42053	D	0.000774	T	0.57607	0.2065	N	0.14661	0.345	0.32188	N	0.579459	D	0.76494	0.999	D	0.65773	0.938	T	0.62959	-0.6743	10	0.44086	T	0.13	-9.0892	6.7211	0.23330	0.0:0.7158:0.0:0.2842	.	137	Q10571	MN1_HUMAN	C	137	ENSP00000304956:G137C	ENSP00000304956:G137C	G	-	1	0	MN1	26526123	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.609000	0.46317	1.223000	0.43536	0.561000	0.74099	GGC	.		0.721	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28196123	C	A	28196123	3	1	31	1	0	0	0	0	1	0	0	0	9711	652	23	2	3561	2	MN1	22	28196123	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1434603	28196123	23108443	2236	7788											
AP1B1	162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29745300	29745300	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactcgcccacaatccagatCatggcagcccgggcctcagg	10	16	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29745300C>A	ENST00000405198.1	-	10	1375	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I|AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I|AP1B1_ENST00000357586.2_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	448					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATCCAGATCATGGCAGCCC	0.587																																					p.M448I		.											.	AP1B1-92	0			c.G1344T						.						110	96	101					22																	29745300		2203	4300	6503	SO:0001583	missense	162	exon11			CCAGATCATGGCA	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1344G>T	22.37:g.29745300C>A	ENSP00000384194:p.Met448Ile	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	73	47	NM_001127	0	0	0	0	0	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134432|4.134432	0.77662|0.77662	.|.	.|.	ENSG00000100280|ENSG00000100280	ENST00000415756|ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.|T;T;T;T;T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20981|0.20981	0.0505|0.0505	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;B;B;D;P	.|0.58268	.|0.859;0.029;0.029;0.982;0.737	.|P;B;B;P;P	.|0.61397	.|0.888;0.011;0.011;0.816;0.525	T|T	0.00688|0.00688	-1.1609|-1.1609	5|10	.|0.46703	.|T	.|0.11	-44.4877|-44.4877	19.2884|19.2884	0.94089|0.94089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;448;448;448;448	.|B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.|.;.;.;AP1B1_HUMAN;.	Y|I	161|448	.|ENSP00000350199:M448I;ENSP00000348297:M448I;ENSP00000400065:M448I;ENSP00000384194:M448I;ENSP00000319361:M448I;ENSP00000386071:M448I;ENSP00000387612:M448I;ENSP00000400022:M448I	.|ENSP00000319361:M448I	D|M	-|-	1|3	0|0	AP1B1|AP1B1	28075300|28075300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	GAT|ATG	.		0.587	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		A	29745300	C	A	29745300	3	1	31	1	0	0	0	0	1	0	0	0	731	826	29	3	1557	3	AP1B1	22	29745300	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1549177	29745300	21559266	2237	7789											
NEFH	4744	broad.mit.edu	37	chr22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG													agaggccaagtcccctgagaINSaggccaagtccccagtgaag					rs267607534|rs267607535		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29885622_29885623insAGGAAG	ENST00000310624.6	+	4	2026_2027	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	671	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						GTCCCCTGAGAAGGCCAAGTCC	0.579																																					p.K665delinsKEE		.											.	NEFH-90	0			c.1993_1994insAGGAAG						.																																			SO:0001652	inframe_insertion	4744	exon4			CCTGAGAAGGCCA		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	Exception_encountered	22.37:g.29885622_29885623insAGGAAG	ENSP00000311997:p.Lys665_Ala666insGluGlu	Somatic	367	0		WXS	Illumina GAIIx	Phase_I	391	10	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.579	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGGAAG	29885623	-	AGGAAG	29885622	7	5	31	1	0	1	1	0	0	0	0	0	10353	247	9	0	2007	0	NEFH	22	29885622	In_Frame_Ins	INS	-	TCGA-OR-A5KB-01A-11D-A30A-10	140322	29885622	21418944	2238	7790											
C22orf42	150297	ucsc.edu;bcgsc.ca	37	chr22	32547007	32547007	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggcctcagatatttcCtgcagtaagagaaaagaaaa	9	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:32547007C>G	ENST00000382097.3	-	6	538		c.e6-1		C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CAGATATTTCCTGCAGTAAGA	0.388																																					.		.											.	C22orf42-92	0			c.466-1G>C						.						67	73	71					22																	32547007		2203	4300	6503	SO:0001630	splice_region_variant	150297	exon7			TATTTCCTGCAGT	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.466-1G>C	22.37:g.32547007C>G		Somatic	317	2		WXS	Illumina GAIIx	Phase_I	270	185	NM_001010859	0	0	0	0	0	A4QPH5	Splice_Site	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337698	0.05278	.	.	ENSG00000205856	ENST00000382097	.	.	.	0.84	0.84	0.18912	.	.	.	.	.	.	.	.	.	.	.	0.22096	N	0.999368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.986	0.14190	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf42	30877007	0.009000	0.17119	0.006000	0.13384	0.009000	0.06853	0.420000	0.21263	0.754000	0.32968	0.297000	0.19635	.	.		0.388	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	Intron	G	32547007	C	G	32547007	5	3	31	1	0	0	0	0	0	0	1	0	2156	695	24	3	306	3	C22orf42	22	32547007	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2661385	32547007	18757559	2239	7791											
BPIL2	254240	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	32828365	32828365	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctccccagacttacgaagtCcatggaaacgatggtttcaa	8	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:32828365C>G	ENST00000397452.1	-	11	1254	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	BPIFC_ENST00000534972.1_Missense_Mutation_p.D106H|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.D382H			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	382						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTTACGAAGTCCATGGAAACG	0.507																																					p.D382H		.											.	.	0			c.G1144C						.						172	155	161					22																	32828365		2203	4300	6503	SO:0001583	missense	254240	exon10			CGAAGTCCATGGA	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1144G>C	22.37:g.32828365C>G	ENSP00000380594:p.Asp382His	Somatic	173	2		WXS	Illumina GAIIx	Phase_I	208	152	NM_174932	0	0	0	0	0	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894355	0.72639	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.08193	3.12;3.12;3.12	5.86	4.84	0.62591	.	0.050950	0.85682	D	0.000000	T	0.25382	0.0617	M	0.81802	2.56	0.41488	D	0.988204	D	0.64830	0.994	D	0.67900	0.954	T	0.00377	-1.1778	10	0.59425	D	0.04	-30.8753	8.0583	0.30619	0.0:0.8434:0.0:0.1566	.	382	Q8NFQ6	BPIFC_HUMAN	H	382;382;106	ENSP00000380594:D382H;ENSP00000300399:D382H;ENSP00000439123:D106H	ENSP00000300399:D382H	D	-	1	0	BPIFC	31158365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.264000	0.43302	2.781000	0.95711	0.650000	0.86243	GAC	.		0.507	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		G	32828365	C	G	32828365	3	3	31	1	0	0	0	0	1	0	0	0	1496	855	30	3	403	3	BPIL2	22	32828365	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	281358	32828365	18476201	2240	7792											
LARGE	9215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	33712075	33712075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggccgtctgccatacctgtCcatggacagctgagcgacca	11	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:33712075C>A	ENST00000354992.2	-	12	2018	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LARGE_ENST00000402320.1_Missense_Mutation_p.D431Y|LARGE_ENST00000437602.2_Missense_Mutation_p.D483Y|LARGE_ENST00000452586.2_Missense_Mutation_p.D282Y|LARGE_ENST00000397394.2_Missense_Mutation_p.D483Y|LARGE_ENST00000337431.2_Missense_Mutation_p.D431Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	483					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCATACCTGTCCATGGACAGC	0.602																																					p.D483Y	Colon(70;397 1175 4573 19089 45288)	.											.	LARGE-92	0			c.G1447T						.						116	85	95					22																	33712075		2203	4300	6503	SO:0001583	missense	9215	exon12			ACCTGTCCATGGA	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1447G>T	22.37:g.33712075C>A	ENSP00000347088:p.Asp483Tyr	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	187	127	NM_004737	0	0	0	0	0	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692919	0.88735	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.59772	0.65;0.73;0.65;0.73;0.24;1.83	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.994;0.994;0.996	D	0.86259	0.1654	10	0.87932	D	0	.	18.8773	0.92343	0.0:1.0:0.0:0.0	.	483;282;431;483	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Y	160;160;160;483;431;483;431;282;483	ENSP00000347088:D483Y;ENSP00000336636:D431Y;ENSP00000380549:D483Y;ENSP00000385223:D431Y;ENSP00000407917:D282Y;ENSP00000388544:D483Y	ENSP00000336636:D431Y	D	-	1	0	LARGE	32042075	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.292000	0.78731	2.458000	0.83093	0.655000	0.94253	GAC	.		0.602	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		A	33712075	C	A	33712075	3	1	31	1	0	0	0	0	1	0	0	0	8655	855	30	3	843	3	LARGE	22	33712075	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	883710	33712075	17592491	2241	7793											
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	37465237	37465237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccgggtggtcgagctgCagcagcgccacgtcgtagtc	14	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:37465237C>T	ENST00000346753.3	-	16	2132	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	TMPRSS6_ENST00000406725.1_Silent_p.L663L|TMPRSS6_ENST00000381792.2_Silent_p.L663L|TMPRSS6_ENST00000406856.1_Silent_p.L663L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	672	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTCGAGCTGCAGCAGCGCCA	0.687																																					p.L672L		.											.	TMPRSS6-292	0			c.G2016A						.						36	35	35					22																	37465237		2195	4293	6488	SO:0001819	synonymous_variant	164656	exon16			GAGCTGCAGCAGC	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.2016G>A	22.37:g.37465237C>T		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	139	78	NM_153609	0	0	0	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			.		0.687	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37465237	C	T	37465237	2	4	31	1	0	0	0	0	0	0	0	1	16298	697	25	3		3	TMPRSS6	22	37465237	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3753162	37465237	13839329	2242	7794											
SSTR3	6753	hgsc.bcm.edu	37	chr22	37603296	37603296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgccgcggggcactcCcgagaagaccaccacgggca	13	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:37603296C>T	ENST00000328544.3	-	2	1080	c.547G>A	c.(547-549)Gga>Aga	p.G183R	SSTR3_ENST00000402501.1_Missense_Mutation_p.G183R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	183					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CGGGGCACTCCCGAGAAGACC	0.726																																					p.G183R		.											.	SSTR3-522	0			c.G547A						.						14	17	16					22																	37603296		2197	4268	6465	SO:0001583	missense	6753	exon2			GCACTCCCGAGAA		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.547G>A	22.37:g.37603296C>T	ENSP00000330138:p.Gly183Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	53	16	NM_001051	0	0	0	0	0	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247417	0.22880	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71934	-0.61;-0.61	5.64	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.343038	0.32190	N	0.006453	T	0.63331	0.2502	L	0.41079	1.255	0.09310	N	1	B	0.28760	0.221	B	0.35727	0.209	T	0.50684	-0.8799	10	0.16420	T	0.52	.	13.9876	0.64345	0.0:0.9274:0.0:0.0726	.	183	P32745	SSR3_HUMAN	R	183	ENSP00000330138:G183R;ENSP00000384904:G183R	ENSP00000330138:G183R	G	-	1	0	SSTR3	35933242	0.008000	0.16893	0.420000	0.26596	0.304000	0.27724	0.541000	0.23207	2.663000	0.90544	0.563000	0.77884	GGA	.		0.726	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			T	37603296	C	T	37603296	3	4	31	1	0	0	0	0	1	0	0	0	15246	632	22	3	713	3	SSTR3	22	37603296	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	138059	37603296	13701270	2243	7795											
SH3BP1	23616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	38043305	38043305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctatctgcgggagctgccAgagcctctgatgaccttcga	11	13	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:38043305A>G	ENST00000357436.4	+	12	1381	c.1068A>G	c.(1066-1068)ccA>ccG	p.P356P	SH3BP1_ENST00000442465.2_Silent_p.P356P|SH3BP1_ENST00000336738.5_Silent_p.P356P|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Silent_p.P292P	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	356	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)					GGGAGCTGCCAGAGCCTCTGA	0.612																																					p.P356P		.											.	SH3BP1-90	0			c.A1068G						.						121	122	121					22																	38043305		2203	4300	6503	SO:0001819	synonymous_variant	23616	exon12			GCTGCCAGAGCCT		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.1068A>G	22.37:g.38043305A>G		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	98	41	NM_018957	0	0	0	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			.		0.612	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		G	38043305	A	G	38043305	2	3	31	1	0	0	0	0	0	0	0	1	14289	175	7	4		4	SH3BP1	22	38043305	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	440009	38043305	13261261	2244	7796											
APOBEC3F	200316	bcgsc.ca	37	chr22	39440149	39440149	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccctttggccagtgcgCcccaccacatgggacagcgc	11	17	0	0	rs5750728	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:39440149C>T	ENST00000308521.5	+	3	528				APOBEC3F_ENST00000491387.1_Intron|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.A78V	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F						base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ggccagtgcgccccaccacat	0.582													C|||	2504	0.5	0.202	0.6239	5008	,	,		18242	0.7093		0.4911	False		,,,				2504	0.6084				p.A78V		.											.	APOBEC3F-226	0			c.C233T						.	C	VAL/ALA,	1141,3239		159,823,1208	48	42	44		233,	0.2	0	22	dbSNP_114	44	4530,4050		1198,2134,958	no	missense,intron	APOBEC3F	NM_001006666.1,NM_145298.5	64,	1357,2957,2166	TT,TC,CC		47.2028,26.0502,43.7577	,	78/102,	39440149	5671,7289	2190	4290	6480	SO:0001627	intron_variant	200316	exon3			AGTGCGCCCCACC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.172-797C>T	22.37:g.39440149C>T		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	182	7	NM_001006666	0	0	0	0	0	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	1108	0.5073260073260073	110	0.22357723577235772	236	0.6519337016574586	405	0.708041958041958	357	0.470976253298153	.	6.374	0.437123	0.12104	0.260502	0.527972	ENSG00000128394	ENST00000381565	T	0.17370	2.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.17667	0.023	B	0.11329	0.006	T	0.20907	-1.0261	6	0.48119	T	0.1	.	.	.	.	rs5750728;rs8141017;rs52830498;rs59723377;rs5750728	78	Q6ICH3	.	V	78	ENSP00000370977:A78V	ENSP00000370977:A78V	A	+	2	0	APOBEC3F	37770095	0.001000	0.12720	0.033000	0.17914	0.034000	0.12701	-0.356000	0.07661	0.308000	0.22923	0.313000	0.20887	GCC	C|0.534;T|0.466		0.582	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		T	39440149	C	T	39440149	1	4	31	0	1	0	0	0	0	0	0	0	793	739	26	3		3	APOBEC3F	22	39440149	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1396844	39440149	11864417	2245	7797											
FAM83F	113828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	40417793	40417793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaaacggcatgggagaaGcggcccggggggaggccgcc	20	12	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:40417793G>A	ENST00000333407.6	+	4	1373	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	FAM83F_ENST00000473717.1_Missense_Mutation_p.A259T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	427										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATGGGAGAAGCGGCCCGGGG	0.667																																					p.A427T		.											.	FAM83F-153	0			c.G1279A						.						19	19	19					22																	40417793		2199	4297	6496	SO:0001583	missense	113828	exon4			GGAGAAGCGGCCC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1279G>A	22.37:g.40417793G>A	ENSP00000330432:p.Ala427Thr	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	154	37	NM_138435	0	0	0	0	0	Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076238	0.20227	.	.	ENSG00000133477	ENST00000333407	T	0.08896	3.04	4.94	2.86	0.33363	.	2.375860	0.01237	N	0.008519	T	0.09024	0.0223	L	0.34521	1.04	0.09310	N	0.999994	B	0.17038	0.02	B	0.18263	0.021	T	0.36696	-0.9737	10	0.23302	T	0.38	-6.3502	8.127	0.31005	0.2479:0.0:0.7521:0.0	.	427	Q8NEG4	FA83F_HUMAN	T	427	ENSP00000330432:A427T	ENSP00000330432:A427T	A	+	1	0	FAM83F	38747739	0.909000	0.30893	0.793000	0.32043	0.028000	0.11728	3.058000	0.49939	0.678000	0.31325	0.455000	0.32223	GCG	.		0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		A	40417793	G	A	40417793	3	1	31	1	0	0	0	0	1	0	0	0	5660	971	34	3	1293	3	FAM83F	22	40417793	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	977644	40417793	10886773	2246	7798											
XPNPEP3	63929	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	41278040	41278040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattaccatcacacaaagccAtactttttgtgcctcggcga	6	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:41278040A>T	ENST00000357137.4	+	3	532	c.448A>T	c.(448-450)Ata>Tta	p.I150L	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I150L|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I150L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I127L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	150					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACAAAGCCATACTTTTTGT	0.488																																					p.I150L	Ovarian(145;306 1841 7037 21878 30110)	.											.	XPNPEP3-68	0			c.A448T						.						116	107	110					22																	41278040		2203	4300	6503	SO:0001583	missense	63929	exon3			AAAGCCATACTTT		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.448A>T	22.37:g.41278040A>T	ENSP00000349658:p.Ile150Leu	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	108	49	NM_022098	0	0	0	0	0	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	8.122	0.781211	0.16120	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.7	2.42	0.29668	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.543982	0.24102	N	0.041540	T	0.60983	0.2311	L	0.35341	1.055	0.27481	N	0.95257	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.004	T	0.41910	-0.9482	10	0.14656	T	0.56	.	6.0614	0.19841	0.67:0.1253:0.2048:0.0	.	150;150	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	L	150;150;150;127	ENSP00000443682:I150L;ENSP00000397110:I150L;ENSP00000349658:I150L;ENSP00000441942:I127L	ENSP00000349658:I150L	I	+	1	0	XPNPEP3	39607986	0.997000	0.39634	0.983000	0.44433	0.195000	0.23768	0.801000	0.27055	0.459000	0.27016	0.451000	0.29950	ATA	.		0.488	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		T	41278040	A	T	41278040	3	4	31	1	0	0	0	0	1	0	0	0	17493	217	8	5	458	5	XPNPEP3	22	41278040	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	860247	41278040	10026526	2247	7799											
ZC3H7B	23264	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	41723297	41723297	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgttgttccgcaaggcacgcGctctcaatgaactgggacgc	12	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:41723297G>C	ENST00000352645.4	+	5	630	c.373G>C	c.(373-375)Gct>Cct	p.A125P	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A125P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	125					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						CAAGGCACGCGCTCTCAATGA	0.652																																					p.A125P		.											.	ZC3H7B-90	0			c.G373C						.						144	117	126					22																	41723297		2203	4300	6503	SO:0001583	missense	23264	exon5			GCACGCGCTCTCA		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.373G>C	22.37:g.41723297G>C	ENSP00000345793:p.Ala125Pro	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	135	34	NM_017590	0	0	0	0	0	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811555	0.70797	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.37411	1.2;1.2	5.27	4.17	0.49024	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.162467	0.56097	D	0.000040	T	0.56321	0.1977	M	0.68317	2.08	0.38366	D	0.944755	D;P	0.65815	0.995;0.938	D;B	0.67548	0.952;0.423	T	0.64326	-0.6434	10	0.72032	D	0.01	-25.8955	14.9866	0.71353	0.0:0.0:0.8069:0.1931	.	125;125	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	P	125	ENSP00000345793:A125P;ENSP00000263243:A125P	ENSP00000263243:A125P	A	+	1	0	ZC3H7B	40053243	0.995000	0.38212	0.939000	0.37840	0.698000	0.40448	2.511000	0.45476	2.457000	0.83068	0.491000	0.48974	GCT	.		0.652	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		C	41723297	G	C	41723297	3	2	31	1	0	0	0	0	1	0	0	0	17621	1087	38	2	387	2	ZC3H7B	22	41723297	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	445257	41723297	9581269	2248	7800											
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	42114182	42114182	+	Nonsense_Mutation	SNP	G	G	T													actcctcaccagtggcagctGagatgctttcaggacacttc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42114182G>T	ENST00000401548.3	+	6	677	c.637G>T	c.(637-639)Gag>Tag	p.E213*	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'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						AGTGGCAGCTGAGATGCTTTC	0.493																																					p.E213X		.											.	MEI1-70	0			c.G637T						.						83	81	82					22																	42114182		1944	4141	6085	SO:0001587	stop_gained	150365	exon6			GCAGCTGAGATGC	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.637G>T	22.37:g.42114182G>T	ENSP00000384115:p.Glu213*	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	94	16	NM_152513	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344666	0.95807	.	.	ENSG00000167077	ENST00000401548	.	.	.	5.76	4.75	0.60458	.	0.065086	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.5664	14.667	0.68915	0.0696:0.0:0.9304:0.0	.	.	.	.	X	213	.	ENSP00000384115:E213X	E	+	1	0	MEI1	40444128	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	3.147000	0.50639	1.447000	0.47661	0.655000	0.94253	GAG	.		0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		T	42114182	G	T	42114182	4	4	31	1	0	0	0	0	0	1	0	0	9503	1291	45	3	659	3	MEI1	22	42114182	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	390885	42114182	9190384	2249	7801	64	2									
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	42114184	42114184	+	De_novo_Start_InFrame	SNP	G	G	A													tcctcaccagtggcagctgaGatgctttcaggacacttccg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42114184G>A	ENST00000400107.1	+	0	664				MEI1_ENST00000540833.1_De_novo_Start_InFrame|MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000401548.3_Silent_p.E213E					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						TGGCAGCTGAGATGCTTTCAG	0.493																																					p.E213E		.											.	MEI1-70	0			c.G639A						.						84	82	83					22																	42114184		1942	4141	6083			150365	exon6			AGCTGAGATGCTT	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		22.37:g.42114184G>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	96	17	NM_152513	0	0	0	0	0		Silent	SNP	ENST00000400107.1	37																																																																																				.		0.493	MEI1-202	KNOWN	basic	protein_coding	protein_coding		NM_152513		A	42114184	G	A	42114184	1	1	31	1	0	1	0	0	0	0	0	0	9503	933	33	3		3	MEI1	22	42114184	De_novo_Start_InFrame	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2	42114184	9190382	2250	7802	64	2									
NFAM1	150372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	42781209	42781209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaagttcgccatcatcttcGaatctatgcggtctctcctg	7	12	4	0	rs200124807		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42781209G>T	ENST00000329021.5	-	6	808	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	257					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						CATCATCTTCGAATCTATGCG	0.478																																					p.F257L		.											.	NFAM1-90	0			c.C771A						.						112	117	115					22																	42781209		2203	4300	6503	SO:0001583	missense	150372	exon6			ATCTTCGAATCTA	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.771C>A	22.37:g.42781209G>T	ENSP00000333680:p.Phe257Leu	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	63	32	NM_145912	0	0	0	0	0	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454096	0.43634	.	.	ENSG00000235568	ENST00000329021	T	0.31247	1.5	4.38	-8.75	0.00834	.	0.993514	0.08148	U	0.990481	T	0.19886	0.0478	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.34650	-0.9820	10	0.62326	D	0.03	0.2426	1.0356	0.01548	0.2625:0.1986:0.3286:0.2104	.	257	Q8NET5	NFAM1_HUMAN	L	257	ENSP00000333680:F257L	ENSP00000333680:F257L	F	-	3	2	NFAM1	41111153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-2.295000	0.00662	-1.191000	0.01696	TTC	G|1.000;A|0.000		0.478	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		T	42781209	G	T	42781209	3	4	31	1	0	0	0	0	1	0	0	0	10397	1049	37	2	45	2	NFAM1	22	42781209	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	667025	42781209	8523357	2251	7803											
SCUBE1	80274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	43610215	43610215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatacatgacacacacTggccgagctcaccaccgaag	9	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:43610215T>A	ENST00000360835.4	-	16	2060	c.1934A>T	c.(1933-1935)cAg>cTg	p.Q645L	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	645					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGACACACACTGGCCGAGCTC	0.647																																					p.Q645L		.											.	SCUBE1-93	0			c.A1934T						.						75	57	63					22																	43610215		2203	4300	6503	SO:0001583	missense	80274	exon16			ACACACTGGCCGA		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1934A>T	22.37:g.43610215T>A	ENSP00000354080:p.Gln645Leu	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	211	94	NM_173050	0	0	0	0	0	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	t	13.66	2.302131	0.40694	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.15256	2.44	3.81	3.81	0.43845	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.106561	0.64402	D	0.000003	T	0.20292	0.0488	M	0.68952	2.095	0.80722	D	1	B	0.06786	0.001	B	0.18561	0.022	T	0.03945	-1.0990	10	0.33141	T	0.24	.	13.0438	0.58915	0.0:0.0:0.0:1.0	.	645	Q8IWY4	SCUB1_HUMAN	L	645;275	ENSP00000354080:Q645L	ENSP00000354080:Q645L	Q	-	2	0	SCUBE1	41940159	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	4.898000	0.63238	1.733000	0.51620	0.449000	0.29647	CAG	.		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43610215	T	A	43610215	3	1	31	1	0	0	0	0	1	0	0	0	13989	1580	55	5	1060	5	SCUBE1	22	43610215	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	829006	43610215	7694351	2252	7804											
EFCAB6	64800	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	44151684	44151684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagttctcttaatgtgcGgcagcaattcatttcattcc	6	10	4	0	rs565223062		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44151684G>A	ENST00000262726.7	-	6	722	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	EFCAB6_ENST00000358439.4_Missense_Mutation_p.R51C|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R5C|EFCAB6_ENST00000356087.4_Missense_Mutation_p.R51C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	157					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)				CTTAATGTGCGGCAGCAATTC	0.338													G|||	1	0.000199681	0	0.0014	5008	,	,		15955	0		0	False		,,,				2504	0				p.R157C		.											.	EFCAB6-97	0			c.C469T						.						54	52	52					22																	44151684		2201	4300	6501	SO:0001583	missense	64800	exon6			ATGTGCGGCAGCA	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.469C>T	22.37:g.44151684G>A	ENSP00000262726:p.Arg157Cys	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	33	17	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624028	0.28889	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.64	2.41	0.29592	.	0.656363	0.13767	N	0.364190	T	0.29321	0.0730	M	0.69823	2.125	0.09310	N	1	B;B;B;B	0.23316	0.014;0.083;0.016;0.011	B;B;B;B	0.17433	0.017;0.018;0.011;0.004	T	0.25641	-1.0126	10	0.54805	T	0.06	-18.3798	5.3931	0.16255	0.1022:0.0:0.7003:0.1975	.	51;51;157;157	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	C	5;157;51;51	ENSP00000379533:R5C;ENSP00000262726:R157C;ENSP00000351219:R51C;ENSP00000348391:R51C	ENSP00000262726:R157C	R	-	1	0	EFCAB6	42483017	0.013000	0.17824	0.014000	0.15608	0.395000	0.30598	1.092000	0.30927	1.312000	0.45043	-0.137000	0.14449	CGC	.		0.338	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	44151684	G	A	44151684	3	1	31	1	0	0	0	0	1	0	0	0	4953	1116	39	1	4144	1	EFCAB6	22	44151684	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	541469	44151684	7152882	2253	7805											
EFCAB6	64800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	44161245	44161245	+	Missense_Mutation	SNP	G	G	A													tggacagaaaggcaaggtacGgtacagtaccagaggtgcta					rs139001785		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44161245G>A	ENST00000262726.7	-	5	633	c.380C>T	c.(379-381)cCg>cTg	p.P127L	EFCAB6_ENST00000358439.4_Missense_Mutation_p.P21L|EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000356087.4_Missense_Mutation_p.P21L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	127					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)				GGCAAGGTACGGTACAGTACC	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		19586	0		0	False		,,,				2504	0				p.P127L		.											.	EFCAB6-97	0			c.C380T						.						133	134	133					22																	44161245		2203	4300	6503	SO:0001583	missense	64800	exon5			AGGTACGGTACAG	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.380C>T	22.37:g.44161245G>A	ENSP00000262726:p.Pro127Leu	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	189	73	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.22	2.470871	0.43942	.	.	ENSG00000186976	ENST00000262726;ENST00000358439;ENST00000356087	T;T;T	0.31247	1.5;1.5;1.5	4.34	4.34	0.51931	EF-hand-like domain (1);	0.195954	0.32218	N	0.006419	T	0.46983	0.1421	L	0.55103	1.725	0.30899	N	0.729514	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.964;0.989;0.975;0.973	T	0.43410	-0.9393	10	0.30078	T	0.28	-26.3511	12.5318	0.56120	0.0:0.0:1.0:0.0	.	21;21;127;127	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	L	127;21;21	ENSP00000262726:P127L;ENSP00000351219:P21L;ENSP00000348391:P21L	ENSP00000262726:P127L	P	-	2	0	EFCAB6	42492578	0.903000	0.30736	0.178000	0.23040	0.207000	0.24258	2.923000	0.48868	2.392000	0.81423	0.655000	0.94253	CCG	G|0.999;A|0.000		0.393	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	44161245	G	A	44161245	3	1	31	1	0	0	0	0	1	0	0	0	4953	1116	39	1	4237	1	EFCAB6	22	44161245	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	9561	44161245	7143321	2254	7806	65	2									
EFCAB6	64800	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	44161247	44161247	+	Silent	SNP	T	T	A													gacagaaaggcaaggtacggTacagtaccagaggtgctaag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44161247T>A	ENST00000262726.7	-	5	631	c.378A>T	c.(376-378)gtA>gtT	p.V126V	EFCAB6_ENST00000358439.4_Silent_p.V20V|EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000356087.4_Silent_p.V20V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	126					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)				CAAGGTACGGTACAGTACCAG	0.393																																					p.V126V		.											.	EFCAB6-97	0			c.A378T						.						133	133	133					22																	44161247		2203	4300	6503	SO:0001819	synonymous_variant	64800	exon5			GTACGGTACAGTA	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.378A>T	22.37:g.44161247T>A		Somatic	201	1		WXS	Illumina GAIIx	Phase_I	189	74	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	CCDS14049.1																																																																																			.		0.393	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	44161247	T	A	44161247	2	1	31	1	0	0	0	0	0	0	0	1	4953	1625	57	5		5	EFCAB6	22	44161247	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2	44161247	7143319	2255	7807	65	2									
PARVG	64098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	44602230	44602230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccaagagcacactgaGggtgctctatggtctgttct	13	9	3	2	rs574110853		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44602230G>T	ENST00000444313.3	+	14	1404	c.920G>T	c.(919-921)aGg>aTg	p.R307M	PARVG_ENST00000422871.1_Missense_Mutation_p.R307M|PARVG_ENST00000415224.1_Missense_Mutation_p.R307M	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	307	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGCACACTGAGGGTGCTCTAT	0.607																																					p.R307M		.											.	PARVG-90	0			c.G920T						.						90	84	86					22																	44602230		2203	4300	6503	SO:0001583	missense	64098	exon14			CACTGAGGGTGCT	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.920G>T	22.37:g.44602230G>T	ENSP00000391583:p.Arg307Met	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	278	117	NM_001137606	0	0	0	0	0	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049386	0.36181	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.58652	0.32;0.32;0.32	3.84	3.84	0.44239	Calponin homology domain (5);	0.244429	0.33272	N	0.005082	T	0.76877	0.4049	M	0.84511	2.7	0.50313	D	0.999867	D	0.89917	1.0	D	0.77004	0.989	T	0.81611	-0.0854	10	0.72032	D	0.01	-7.243	13.6118	0.62083	0.0:0.0:1.0:0.0	.	307	Q9HBI0	PARVG_HUMAN	M	307	ENSP00000391453:R307M;ENSP00000391583:R307M;ENSP00000416761:R307M	ENSP00000416761:R307M	R	+	2	0	PARVG	42933563	0.670000	0.27512	0.065000	0.19835	0.033000	0.12548	2.169000	0.42434	1.844000	0.53588	0.313000	0.20887	AGG	.		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		T	44602230	G	T	44602230	3	4	31	1	0	0	0	0	1	0	0	0	11509	1000	35	3	966	3	PARVG	22	44602230	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	440983	44602230	6702336	2256	7808											
C22orf9	23313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	45598876	45598876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgcagcccttacccgctCgtgcatgggcgaagctgggc	14	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45598876C>T	ENST00000336156.5	-	7	912	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KIAA0930_ENST00000443310.3_Missense_Mutation_p.E265K|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E249K|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E288K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	283										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTTACCCGCTCGTGCATGGGC	0.662																																					p.E288K		.											.	KIAA0930-90	0			c.G862A						.						51	50	51					22																	45598876		2203	4300	6503	SO:0001583	missense	23313	exon7			CCCGCTCGTGCAT	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.847G>A	22.37:g.45598876C>T	ENSP00000336720:p.Glu283Lys	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	96	11	NM_015264	0	0	0	0	0	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515541	0.85389	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	0.226724	0.46145	D	0.000301	T	0.42177	0.1191	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.48230	0.725;0.858;0.907;0.84	B;B;B;B	0.39840	0.024;0.122;0.311;0.129	T	0.32079	-0.9920	9	0.12103	T	0.63	-28.6327	18.1137	0.89543	0.0:1.0:0.0:0.0	.	265;283;288;354	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	K	283;168;288;249;265	.	ENSP00000251993:E288K	E	-	1	0	KIAA0930	43977540	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.250000	0.78287	2.280000	0.76307	0.555000	0.69702	GAG	.		0.662	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		T	45598876	C	T	45598876	3	4	31	1	0	0	0	0	1	0	0	0	2158	893	31	1	383	1	C22orf9	22	45598876	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	996646	45598876	5705690	2257	7809											
UPK3A	7380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	45691536	45691536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggagtcttcctacaCgtccgtgaaccgggggccgc	14	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45691536C>A	ENST00000216211.4	+	6	832	c.800C>A	c.(799-801)aCg>aAg	p.T267K	UPK3A_ENST00000396082.2_Missense_Mutation_p.T146K	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	267					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)		TCTTCCTACACGTCCGTGAAC	0.617																																					p.T267K		.											.	UPK3A-90	0			c.C800A						.						46	48	48					22																	45691536		2203	4300	6503	SO:0001583	missense	7380	exon6			CCTACACGTCCGT	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.800C>A	22.37:g.45691536C>A	ENSP00000216211:p.Thr267Lys	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_006953	0	0	0	0	0	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740825	0.49151	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.84070	-0.2;-1.8	5.64	5.64	0.86602	.	0.780759	0.11805	N	0.527724	T	0.81178	0.4768	L	0.57536	1.79	0.09310	N	1	B;P	0.40302	0.325;0.712	B;B	0.35727	0.098;0.209	T	0.76542	-0.2921	10	0.72032	D	0.01	-16.9578	15.2084	0.73198	0.0:1.0:0.0:0.0	.	146;267	O75631-2;O75631	.;UPK3A_HUMAN	K	267;146	ENSP00000216211:T267K;ENSP00000379391:T146K	ENSP00000216211:T267K	T	+	2	0	UPK3A	44070200	0.015000	0.18098	0.187000	0.23214	0.155000	0.21991	3.260000	0.51523	2.676000	0.91093	0.557000	0.71058	ACG	.		0.617	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		A	45691536	C	A	45691536	3	1	31	1	0	0	0	0	1	0	0	0	17059	536	19	2	822	2	UPK3A	22	45691536	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	92660	45691536	5613030	2258	7810											
RIBC2	26150	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	45822021	45822021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagctggagcagatccGcctagtccagaagcagcaaa	13	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45822021G>T	ENST00000342894.3	+	5	1064	c.650G>T	c.(649-651)cGc>cTc	p.R217L	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R285L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	217						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGCAGATCCGCCTAGTCCAG	0.642																																					.		.											.	RIBC2-90	0			.						.						46	47	47					22																	45822021		2203	4299	6502	SO:0001583	missense	26150	.			AGATCCGCCTAGT	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.650G>T	22.37:g.45822021G>T	ENSP00000342529:p.Arg217Leu	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	66	31	.	0	0	0	0	0	Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37		.	.	.	.	.	.	.	.	.	.	G	11.50	1.656442	0.29425	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.28454	1.61;1.61	4.43	3.37	0.38596	.	0.465392	0.21120	N	0.079836	T	0.16769	0.0403	.	.	.	0.31810	N	0.627281	B	0.24675	0.109	B	0.29524	0.103	T	0.14254	-1.0479	9	0.10902	T	0.67	-3.7688	9.1945	0.37220	0.1722:0.0:0.8278:0.0	.	217	Q9H4K1	RIBC2_HUMAN	L	217;285	ENSP00000342529:R217L;ENSP00000444196:R285L	ENSP00000342529:R217L	R	+	2	0	RIBC2	44200685	0.102000	0.21896	0.760000	0.31359	0.731000	0.41821	1.720000	0.38022	2.270000	0.75569	0.655000	0.94253	CGC	.		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		T	45822021	G	T	45822021	3	4	31	1	0	0	0	0	1	0	0	0	13398	1087	38	2	871	2	RIBC2	22	45822021	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	130485	45822021	5482545	2259	7811											
GTSE1	51512	broad.mit.edu	37	chr22	46712004	46712004	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaagtcaggcagaaTgggacccgccatgctgcggc	13	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:46712004T>G	ENST00000454366.1	+	7	1339	c.1127T>G	c.(1126-1128)aTg>aGg	p.M376R		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	357					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCAGGCAGAATGGGACCCGCC	0.552																																					p.M376R	GBM(153;542 1915 12487 29016 50495)	.											.	GTSE1-187	0			c.T1127G						.						34	40	38					22																	46712004		2203	4296	6499	SO:0001583	missense	51512	exon7			GCAGAATGGGACC	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1127T>G	22.37:g.46712004T>G	ENSP00000415430:p.Met376Arg	Somatic	114	11		WXS	Illumina GAIIx	Phase_I	108	9	NM_016426	0	0	0	0	0	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328302	0.24080	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06371	3.31	4.95	-3.29	0.05017	.	3.160910	0.00639	N	0.000505	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.45614	-0.9249	10	0.62326	D	0.03	3.038	10.9378	0.47255	0.0:0.3134:0.0:0.6866	.	357;336	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	R	376;336	ENSP00000415430:M376R	ENSP00000354634:M336R	M	+	2	0	GTSE1	45090668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.184000	0.03076	-0.371000	0.08004	-0.182000	0.12963	ATG	.		0.552	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		G	46712004	T	G	46712004	3	3	31	1	0	0	0	0	1	0	0	0	6912	1464	51	5	1149	5	GTSE1	22	46712004	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	889983	46712004	4592562	2260	7812											
CELSR1	9620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	46835306	46835306	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcatccacctcacagtgctCtcctggggggcgagaggaag	15	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:46835306C>T	ENST00000262738.3	-	3	4185	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1396	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACAGTGCTCTCCTGGGGGG	0.647																																					p.E1396K		.											.	CELSR1-525	0			c.G4186A						.						28	24	25					22																	46835306		2203	4300	6503	SO:0001583	missense	9620	exon3			AGTGCTCTCCTGG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4186G>A	22.37:g.46835306C>T	ENSP00000262738:p.Glu1396Lys	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	84	18	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335256	0.95758	.	.	ENSG00000075275	ENST00000262738	D	0.87179	-2.22	5.1	5.1	0.69264	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.073741	0.51477	U	0.000082	D	0.84790	0.5550	N	0.04245	-0.25	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.85039	0.0922	10	0.23891	T	0.37	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	1396	Q9NYQ6	CELR1_HUMAN	K	1396	ENSP00000262738:E1396K	ENSP00000262738:E1396K	E	-	1	0	CELSR1	45213970	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	7.429000	0.80309	2.387000	0.81309	0.561000	0.74099	GAG	.		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46835306	C	T	46835306	3	4	31	1	0	0	0	0	1	0	0	0	3228	922	32	3	4990	3	CELSR1	22	46835306	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	123302	46835306	4469260	2261	7813											
PLXNB2	23654	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	50714236	50714236	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaaggcattgatgAtctgagggagggtcgcatca	12	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:50714236A>T	ENST00000449103.1	-	37	5554	c.5414T>A	c.(5413-5415)aTc>aAc	p.I1805N	PLXNB2_ENST00000359337.4_Splice_Site_p.I1805N|AL022328.1_ENST00000595015.1_Splice_Site_p.D45V			O15031	PLXB2_HUMAN	plexin B2	1805					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)		GGCATTGATGATCTGAGGGAG	0.647											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I1805N		.											.	PLXNB2-211	0			c.T5414A						.						43	49	47					22																	50714236		2111	4252	6363	SO:0001630	splice_region_variant	23654	exon37			TTGATGATCTGAG		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.5413-1T>A	22.37:g.50714236A>T		Somatic	87	1	971	WXS	Illumina GAIIx	Phase_I	119	51	NM_012401	0	0	0	0	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566773	0.86439	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.18657	2.2;2.2	4.7	4.7	0.59300	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.52517	0.1739	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63161	-0.6699	10	0.87932	D	0	.	14.1753	0.65537	1.0:0.0:0.0:0.0	.	1805	O15031	PLXB2_HUMAN	N	1805	ENSP00000409171:I1805N;ENSP00000352288:I1805N	ENSP00000352288:I1805N	I	-	2	0	PLXNB2	49056363	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.003000	0.93577	1.754000	0.51921	0.379000	0.24179	ATC	.		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	Missense_Mutation	T	50714236	A	T	50714236	5	4	31	1	0	0	0	0	0	0	1	0	12163	347	12	5	106	5	PLXNB2	22	50714236	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	3878930	50714236	590330	2262	7814											
ARSA	410	broad.mit.edu;bcgsc.ca	37	chr22	51065667	51065667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaaggccccctcaggcCccaccccaaggtgccacttg	11	18	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:51065667C>A	ENST00000547307.1	-	2	791	c.386G>T	c.(385-387)gGg>gTg	p.G129V	ARSA_ENST00000216124.5_Missense_Mutation_p.G131V|ARSA_ENST00000356098.5_Missense_Mutation_p.G131V|ARSA_ENST00000547805.1_Missense_Mutation_p.G129V|ARSA_ENST00000395619.3_Missense_Mutation_p.G131V|ARSA_ENST00000395621.3_Missense_Mutation_p.G131V|ARSA_ENST00000453344.2_Missense_Mutation_p.G45V			P15289	ARSA_HUMAN	arylsulfatase A	129					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCCCTCAGGCCCCACCCCAAG	0.687																																					p.G131V		.											.	ARSA-92	0			c.G392T						.						14	18	17					22																	51065667		2194	4292	6486	SO:0001583	missense	410	exon3			TCAGGCCCCACCC	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.386G>T	22.37:g.51065667C>A	ENSP00000448440:p.Gly129Val	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	87	43	NM_001085426	0	0	0	0	0	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37		.	.	.	.	.	.	.	.	.	.	C	14.79	2.641965	0.47153	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.74	4.74	0.60224	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.101570	0.64402	D	0.000002	D	0.96670	0.8913	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96562	0.9416	10	0.49607	T	0.09	.	15.5743	0.76362	0.0:1.0:0.0:0.0	.	129;129	B4DVI5;P15289	.;ARSA_HUMAN	V	131;131;129;129;131;45;131	ENSP00000348406:G131V;ENSP00000216124:G131V;ENSP00000448440:G129V;ENSP00000448932:G129V;ENSP00000378983:G131V;ENSP00000412542:G45V;ENSP00000378981:G131V	ENSP00000216124:G131V	G	-	2	0	ARSA	49412533	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	7.540000	0.82074	2.344000	0.79699	0.590000	0.80494	GGG	.		0.687	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		A	51065667	C	A	51065667	3	1	31	1	0	0	0	0	1	0	0	0	988	623	22	3	1165	3	ARSA	22	51065667	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	351431	51065667	238899	2263	7815											
ACR	49	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	51183082	51183082	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtgtccttctggacaggGagacagcggcgggcctctca	14	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:51183082G>A	ENST00000216139.5	+	5	753	c.713G>A	c.(712-714)gGa>gAa	p.G238E	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGGACAGGGAGACAGCGGC	0.602																																					p.G238E		.											.	ACR-90	0			c.G713A						.						22	28	26					22																	51183082		2202	4298	6500	SO:0001630	splice_region_variant	49	exon5			GACAGGGAGACAG	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.712-1G>A	22.37:g.51183082G>A		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	232	55	NM_001097	0	0	0	0	0	Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.46	3.395755	0.62177	.	.	ENSG00000100312	ENST00000216139	D	0.98028	-4.67	4.41	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46145	D	0.000312	D	0.99077	0.9683	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99053	1.0828	10	0.87932	D	0	-14.5785	14.5277	0.67900	0.0:0.0:1.0:0.0	.	238	P10323	ACRO_HUMAN	E	238	ENSP00000216139:G238E	ENSP00000216139:G238E	G	+	2	0	ACR	49529948	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	6.938000	0.75904	2.284000	0.76573	0.305000	0.20034	GGA	.		0.602	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097	Missense_Mutation	A	51183082	G	A	51183082	5	1	31	1	0	0	0	0	0	0	1	0	169	1188	41	3	731	3	ACR	22	51183082	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	117415	51183082	121484	2264	7816											
PPP2R3B	28227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	322316	322316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagaggctcttctttccGtgtctgaacctgaagagtcg	13	10	3	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:322316G>A	ENST00000390665.3	-	2	352	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	112					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTCTTTCCGTGTCTGAACC	0.602																																					p.R112W		.											.	PPP2R3B-136	0			c.C334T						.						120	149	139					X																	322316		2072	4202	6274	SO:0001583	missense	28227	exon2			CTTTCCGTGTCTG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.334C>T	X.37:g.322316G>A	ENSP00000375080:p.Arg112Trp	Somatic	312	1		WXS	Illumina GAIIx	Phase_I	278	154	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259699	0.05791	.	.	ENSG00000167393	ENST00000390665;ENST00000381625	T;T	0.30448	1.53;2.43	1.62	0.068	0.14368	.	1.913840	0.03511	U	0.219645	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.46629	0.522	T	0.13176	-1.0519	10	0.72032	D	0.01	.	5.5603	0.17140	0.0:0.0:0.2837:0.7163	.	112	Q9Y5P8	P2R3B_HUMAN	W	112;84	ENSP00000375080:R112W;ENSP00000371038:R84W	ENSP00000371038:R84W	R	-	1	2	PPP2R3B	242316	0.998000	0.40836	0.004000	0.12327	0.051000	0.14879	2.543000	0.45752	-0.618000	0.05656	0.115000	0.15696	CGG	.		0.602	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		A	322316	G	A	322316	3	1	31	1	0	0	0	0	1	0	0	0	12431	1144	40	1	1441	1	PPP2R3B	23	322316	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10		322316	154948244	2265	7817											
ASMTL	8623	hgsc.bcm.edu	37	chrX	1571720	1571720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcttcccaatcaccGggcacagcaccatggcgtcc	10	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:1571720G>A	ENST00000381317.3	-	1	46	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ASMTL_ENST00000381333.4_Missense_Mutation_p.P5L|ASMTL_ENST00000416733.2_5'UTR|ASMTL_ENST00000534940.1_Intron	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	5						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCAATCACCGGGCACAGCAC	0.716																																					p.P5L		.											.	ASMTL-62	0			c.C14T						.						16	22	20					X																	1571720		1936	4101	6037	SO:0001583	missense	8623	exon1			ATCACCGGGCACA	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.14C>T	X.37:g.1571720G>A	ENSP00000370718:p.Pro5Leu	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	48	28	NM_001173474	0	0	0	0	0	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	N	11.16	1.556258	0.27827	.	.	ENSG00000169093	ENST00000381333;ENST00000381317	T;T	0.04360	4.05;3.64	2.12	2.12	0.27331	.	0.000000	0.64402	U	0.000001	T	0.17746	0.0426	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.01666	-1.1300	10	0.87932	D	0	.	7.1258	0.25471	0.0:0.0:0.732:0.268	.	5;5	O95671-2;O95671	.;ASML_HUMAN	L	5	ENSP00000370734:P5L;ENSP00000370718:P5L	ENSP00000370718:P5L	P	-	2	0	ASMTL	1531720	0.716000	0.27956	0.863000	0.33907	0.398000	0.30690	2.208000	0.42797	0.649000	0.30751	0.272000	0.19324	CCG	.		0.716	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		A	1571720	G	A	1571720	3	1	31	1	0	0	0	0	1	0	0	0	1047	1116	39	1	1903	1	ASMTL	23	1571720	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1249404	1571720	153698840	2266	7818											
CD99	4267	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	2637737	2637737	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggagatgctgttgttgatGgagaaaatggtgagtatttt	14	1	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:2637737G>T	ENST00000381192.3	+	4	366	c.184G>T	c.(184-186)Gga>Tga	p.G62*	CD99_ENST00000381187.3_Nonsense_Mutation_p.G46*|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Nonsense_Mutation_p.G62*	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	62					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TGTTGTTGATGGAGAAAATGG	0.383																																					p.G62X		.											.	CD99-40	0			c.G184T						.						741	723	729					X																	2637737		2203	4296	6499	SO:0001587	stop_gained	4267	exon4			GTTGATGGAGAAA	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"Pseudoautosomal regions / PAR1", "CD molecules"	7082	protein-coding gene	gene with protein product		313470, 450000	"antigen identified by monoclonal antibodies 12E7, F21 and O13", "CD99 antigen"	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.184G>T	X.37:g.2637737G>T	ENSP00000370588:p.Gly62*	Somatic	537	2		WXS	Illumina GAIIx	Phase_I	413	222	NM_002414	0	0	0	0	0	A6NIW1|O00518|Q6ICV7	Nonsense_Mutation	SNP	ENST00000381192.3	37	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	g	12.78	2.039887	0.35989	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	.	.	.	1.16	1.16	0.20824	.	0.214204	0.29544	U	0.011854	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.3433	0.15996	0.0:0.0:1.0:0.0	.	.	.	.	X	62;46;62;105	.	ENSP00000370579:G62X	G	+	1	0	CD99	2647737	0.012000	0.17670	0.017000	0.16124	0.009000	0.06853	1.595000	0.36708	0.872000	0.35775	0.436000	0.28706	GGA	.		0.383	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		T	2637737	G	T	2637737	4	4	31	1	0	0	0	0	0	1	0	0	3057	1349	47	3	198	3	CD99	23	2637737	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1066017	2637737	152632823	2267	7819											
MXRA5	25878	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	3229122	3229122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaagtcaccttgggcatGggttctcctttggcctcaca	9	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3229122G>A	ENST00000217939.6	-	7	7276	c.7122C>T	c.(7120-7122)ccC>ccT	p.P2374P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2374	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTGGGCATGGGTTCTCCTT	0.537																																					p.P2374P		.											.	MXRA5-136	0			c.C7122T						.						129	108	115					X																	3229122		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon7			GGGCATGGGTTCT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7122C>T	X.37:g.3229122G>A		Somatic	192	1		WXS	Illumina GAIIx	Phase_I	157	74	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3229122	G	A	3229122	2	1	31	1	0	0	0	0	0	0	0	1	10041	1335	47	3		3	MXRA5	23	3229122	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	591385	3229122	152041438	2268	7820											
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	3241638	3241638	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgagcccccttcatcctcCacgatgtcttctctgactct	5	19	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3241638C>G	ENST00000217939.6	-	5	2242	c.2088G>C	c.(2086-2088)gtG>gtC	p.V696V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	696						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCATCCTCCACGATGTCTT	0.522																																					p.V696V		.											.	MXRA5-136	0			c.G2088C						.						75	72	73					X																	3241638		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon5			ATCCTCCACGATG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2088G>C	X.37:g.3241638C>G		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	73	45	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.522	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		G	3241638	C	G	3241638	2	3	31	1	0	0	0	0	0	0	0	1	10041	581	21	3		3	MXRA5	23	3241638	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	12516	3241638	152028922	2269	7821											
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	3248114	3248114	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcacaatcgcaggtccaCggatttccctgcaagtaaag	8	12	1	0	rs200950732		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3248114C>A	ENST00000217939.6	-	4	808	c.654G>T	c.(652-654)ccG>ccT	p.P218P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	218	LRRCT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCAGGTCCACGGATTTCCCT	0.473																																					p.P218P		.											.	MXRA5-136	0			c.G654T						.						64	58	60					X																	3248114		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon4			GGTCCACGGATTT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.654G>T	X.37:g.3248114C>A		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	76	38	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3248114	C	A	3248114	2	1	31	1	0	0	0	0	0	0	0	1	10041	523	19	2		2	MXRA5	23	3248114	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6476	3248114	152022446	2270	7822											
FAM9A	171482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	8763196	8763196	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttctcctcctcctcctcCttcttctccttcttctcctc	0	22	5	0	rs377667696		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:8763196C>A	ENST00000543214.1	-	7	889	c.754G>T	c.(754-756)Gga>Tga	p.G252*	FAM9A_ENST00000381003.3_Nonsense_Mutation_p.G252*	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	252	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				cctcctcctccttcttctcct	0.458																																					p.G252X		.											.	FAM9A-130	0			c.G754T						.		stop/GLY,stop/GLY	0,3814		0,0,1624,566	42	36	38		754,754	0.5	0	X		38	2,6701		0,2,2424,1851	no	stop-gained,stop-gained	FAM9A	NM_001171186.1,NM_174951.3	,	0,2,4048,2417	AA,AC,CC,C		0.0298,0.0,0.019	,	252/333,252/333	8763196	2,10515	2190	4277	6467	SO:0001587	stop_gained	171482	exon7			CTCCTCCTTCTTC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.754G>T	X.37:g.8763196C>A	ENSP00000440163:p.Gly252*	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	48	32	NM_174951	0	0	0	0	0	B7ZLH5|Q2M2D1	Nonsense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108796	0.37242	0.0	2.98E-4	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	0.507	0.16967	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	252	.	ENSP00000370391:G252X	G	-	1	0	FAM9A	8723196	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.096000	0.15147	0.562000	0.29204	0.394000	0.25966	GGA	.		0.458	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		A	8763196	C	A	8763196	4	1	31	1	0	0	0	0	0	1	0	0	5681	690	24	3	256	3	FAM9A	23	8763196	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5515082	8763196	146507364	2271	7823											
AMELX	265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	11316882	11316882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaccagccaaacctccCtccgcccgcccagcagccct	5	24	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:11316882C>T	ENST00000380714.3	+	5	427	c.359C>T	c.(358-360)cCt>cTt	p.P120L	ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P104L|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P134L|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	120					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAAACCTCCCTCCGCCCGCC	0.662																																					p.P134L		.											.	AMELX-130	0			c.C401T						.						105	89	95					X																	11316882		2203	4300	6503	SO:0001583	missense	265	exon6			ACCTCCCTCCGCC		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.359C>T	X.37:g.11316882C>T	ENSP00000370090:p.Pro120Leu	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	162	77	NM_182680	0	0	0	0	0	Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670919	0.29693	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88277	-2.36;-2.36;-2.36	4.85	2.95	0.34219	.	0.177373	0.38837	N	0.001549	D	0.87394	0.6166	M	0.84511	2.7	0.41607	D	0.988883	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.002	T	0.81680	-0.0823	10	0.66056	D	0.02	0.0361	4.6684	0.12676	0.0:0.6043:0.1708:0.225	.	104;120;134	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	120;134;104	ENSP00000370090:P120L;ENSP00000370088:P134L;ENSP00000335312:P104L	ENSP00000335312:P104L	P	+	2	0	AMELX	11226803	0.254000	0.23992	0.976000	0.42696	0.978000	0.69477	0.504000	0.22626	0.347000	0.23924	-0.448000	0.05591	CCT	.		0.662	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		T	11316882	C	T	11316882	3	4	31	1	0	0	0	0	1	0	0	0	569	681	24	3	419	3	AMELX	23	11316882	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2553686	11316882	143953678	2272	7824											
ARHGAP6	395	hgsc.bcm.edu	37	chrX	11682852	11682852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggctgcgggtctggcGcagcttcctcttggagaagc	15	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:11682852G>T	ENST00000337414.4	-	1	969	c.97C>A	c.(97-99)Cgc>Agc	p.R33S	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	33					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGGTCTGGCGCAGCTTCCTC	0.721																																					p.R33S		.											.	ARHGAP6-227	0			c.C97A						.						5	6	6					X																	11682852		1767	3565	5332	SO:0001583	missense	395	exon1			TCTGGCGCAGCTT	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.97C>A	X.37:g.11682852G>T	ENSP00000338967:p.Arg33Ser	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	44	13	NM_006125	0	0	0	0	0	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314121	0.95655	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.53206	1.1;0.88;0.63	4.82	4.82	0.62117	.	.	.	.	.	T	0.52917	0.1764	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.988	D;P	0.64595	0.927;0.892	T	0.58775	-0.7577	9	0.72032	D	0.01	.	14.4354	0.67277	0.0:0.0:1.0:0.0	.	33;33	O43182-2;O43182	.;RHG06_HUMAN	S	33	ENSP00000338967:R33S;ENSP00000370094:R33S;ENSP00000370108:R33S	ENSP00000338967:R33S	R	-	1	0	ARHGAP6	11592773	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.179000	0.71974	1.987000	0.57996	0.594000	0.82650	CGC	.		0.721	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		T	11682852	G	T	11682852	3	4	31	1	0	0	0	0	1	0	0	0	887	1087	38	2	3001	2	ARHGAP6	23	11682852	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	365970	11682852	143587708	2273	7825											
FAM9C	171484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	13056583	13056583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctttcagttcctttccCatcttgttgccacctctttt	3	14	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:13056583C>T	ENST00000333995.3	-	7	608	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	FAM9C_ENST00000542843.1_3'UTR|FAM9C_ENST00000380625.3_Missense_Mutation_p.G160R			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	160						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GTTCCTTTCCCATCTTGTTGC	0.328																																					p.G160R		.											.	FAM9C-130	0			c.G478A						.						127	105	113					X																	13056583		2203	4300	6503	SO:0001583	missense	171484	exon7			CTTTCCCATCTTG		CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.478G>A	X.37:g.13056583C>T	ENSP00000334430:p.Gly160Arg	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_174901	0	0	0	0	0	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.004|0.004	-2.381265|-2.381265	0.00205|0.00205	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000380625;ENST00000333995|ENST00000438997	.|.	.|.	.|.	0.225|0.225	-0.451|-0.451	0.12214|0.12214	.|.	.|.	.|.	.|.	.|.	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.22034|0.22034	-1.0228|-1.0228	7|4	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	.|.	160|.	Q8IZT9|.	FAM9C_HUMAN|.	R|I	160|119	.|.	ENSP00000334430:G160R|.	G|M	-|-	1|3	0|0	FAM9C|FAM9C	12966504|12966504	0.828000|0.828000	0.29307|0.29307	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-1.974000|-1.974000	0.00998|0.00998	-1.954000|-1.954000	0.00483|0.00483	GGG|ATG	.		0.328	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		T	13056583	C	T	13056583	3	4	31	1	0	0	0	0	1	0	0	0	5683	594	21	3	26	3	FAM9C	23	13056583	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1373731	13056583	142213977	2274	7826											
ZRSR2	8233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	15841143	15841143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggggaagaaatctcacaaAcgcacatcaaagagtcggga	12	8	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:15841143A>G	ENST00000307771.7	+	11	1251	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	409					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AATCTCACAAACGCACATCAA	0.577			"F, S, Mis"		"MDS, CLL"																																p.K409K	NSCLC(197;1631 3042 5741 31152)	.		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	.	ZRSR2-133	0			c.A1227G						.						43	42	43					X																	15841143		2198	4296	6494	SO:0001819	synonymous_variant	8233	exon11			TCACAAACGCACA	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1227A>G	X.37:g.15841143A>G		Somatic	210	1		WXS	Illumina GAIIx	Phase_I	214	125	NM_005089	0	0	0	0	0	Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																			.		0.577	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		G	15841143	A	G	15841143	2	3	31	1	0	0	0	0	0	0	0	1	18273	40	2	4		4	ZRSR2	23	15841143	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2784560	15841143	139429417	2275	7827											
GRPR	2925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	16168476	16168476	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccaggcctctcatgccctGatgaagatctgcctcaaagc	8	14	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:16168476G>A	ENST00000380289.2	+	2	860	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	154					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCATGCCCTGATGAAGATCT	0.488																																					p.L154L		.											.	GRPR-565	0			c.G462A						.						102	98	99					X																	16168476		2203	4300	6503	SO:0001819	synonymous_variant	2925	exon2			TGCCCTGATGAAG		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.462G>A	X.37:g.16168476G>A		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	107	60	NM_005314	0	0	0	0	0	B2R910	Silent	SNP	ENST00000380289.2	37	CCDS14174.1																																																																																			.		0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16168476	G	A	16168476	2	1	31	1	0	0	0	0	0	0	0	1	6835	1277	45	3		3	GRPR	23	16168476	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	327333	16168476	139102084	2276	7828											
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	18911675	18911675	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctcttgttaggtaggtCatcgtcccataagccccact	8	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:18911675C>A	ENST00000379942.4	-	33	4301	c.3636G>T	c.(3634-3636)atG>atT	p.M1212I	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1212					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)					TTAGGTAGGTCATCGTCCCAT	0.507																																					p.M1212I		.											.	PHKA2-131	0			c.G3636T						.						210	196	201					X																	18911675		2203	4300	6503	SO:0001583	missense	5256	exon33			GTAGGTCATCGTC		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.3636G>T	X.37:g.18911675C>A	ENSP00000369274:p.Met1212Ile	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	231	103	NM_000292	0	0	0	0	0	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802722	0.70682	.	.	ENSG00000044446	ENST00000379942	T	0.81415	-1.49	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.76574	2.34	0.80722	D	1	B	0.24920	0.114	B	0.33690	0.168	T	0.80054	-0.1543	10	0.42905	T	0.14	-31.6938	19.5561	0.95349	0.0:1.0:0.0:0.0	.	1212	P46019	KPB2_HUMAN	I	1212	ENSP00000369274:M1212I	ENSP00000369274:M1212I	M	-	3	0	PHKA2	18821596	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	7.400000	0.79949	2.574000	0.86865	0.600000	0.82982	ATG	.		0.507	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		A	18911675	C	A	18911675	3	1	31	1	0	0	0	0	1	0	0	0	11883	826	29	3	75	3	PHKA2	23	18911675	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2743199	18911675	136358885	2277	7829											
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	18942242	18942242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagaatgaatgtctgaGccatcatttgctaaggaaaa	9	7	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:18942242G>A	ENST00000379942.4	-	17	2390	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	575					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)					GAATGTCTGAGCCATCATTTG	0.338																																					p.G575G		.											.	PHKA2-131	0			c.C1725T						.						67	71	69					X																	18942242		2203	4299	6502	SO:0001819	synonymous_variant	5256	exon17			GTCTGAGCCATCA		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.1725C>T	X.37:g.18942242G>A		Somatic	286	1		WXS	Illumina GAIIx	Phase_I	352	133	NM_000292	0	0	0	0	0	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																			.		0.338	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		A	18942242	G	A	18942242	2	1	31	1	0	0	0	0	0	0	0	1	11883	958	34	3		3	PHKA2	23	18942242	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	30567	18942242	136328318	2278	7830											
GPR64	10149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	19046318	19046318	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacctggggaacagtgctttCtttatcatattgaaacatga	8	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:19046318C>A	ENST00000379869.3	-	10	560	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	GPR64_ENST00000379878.3_Nonsense_Mutation_p.E117*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.E103*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.E119*|GPR64_ENST00000379876.1_Nonsense_Mutation_p.E109*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.E117*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.E103*|GPR64_ENST00000379873.2_Nonsense_Mutation_p.E133*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.E130*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.E111*	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	133					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)					ACAGTGCTTTCTTTATCATAT	0.264																																					p.E133X		.											.	GPR64-130	0			c.G397T						.						44	45	45					X																	19046318		2190	4254	6444	SO:0001587	stop_gained	10149	exon10			TGCTTTCTTTATC	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.397G>T	X.37:g.19046318C>A	ENSP00000369198:p.Glu133*	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	147	46	NM_001184834	0	0	0	0	0	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Nonsense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185910	0.57909	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	.	.	.	6.16	5.3	0.74995	.	0.222774	0.31312	N	0.007864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.568	0.56320	0.0:0.8387:0.1613:0.0	.	.	.	.	X	133;117;117;109;103;133;111;130;119;103;56	.	ENSP00000344972:E103X	E	-	1	0	GPR64	18956239	0.997000	0.39634	0.361000	0.25849	0.062000	0.15995	2.158000	0.42329	1.335000	0.45486	0.594000	0.82650	GAA	.		0.264	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			A	19046318	C	A	19046318	4	1	31	1	0	0	0	0	0	1	0	0	6731	922	32	3	2736	3	GPR64	23	19046318	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	104076	19046318	136224242	2279	7831											
FAM48B1	100130302	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chrX	24383063	24383063	+	IGR	SNP	C	C	A													gccagggccacagggttccgCactaggtttgagcacgcaag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:24383063C>A								AC004552.1 (16040 upstream) : PDK3 (100274 downstream)																							CAGGGTTCCGCACTAGGTTTG	0.632																																					p.A729E		.											.	.	0			c.C2186A						.						37	37	37					X																	24383063		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			GTTCCGCACTAGG																													X.37:g.24383063C>A		Somatic	475	2		WXS	Illumina GAIIx	Phase_I	320	170	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.632									A	24383063	C	A	24383063	1	1	31	0	1	0	0	0	0	0	0	0	5595	710	25	3		3	FAM48B1	23	24383063	IGR	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5336745	24383063	130887497	2280	7832	66	2									
FAM48B1	100130302	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	24383065	24383065	+	IGR	SNP	C	C	A													cagggccacagggttccgcaCtaggtttgagcacgcaaggg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:24383065C>A								AC004552.1 (16042 upstream) : PDK3 (100272 downstream)																							GGGTTCCGCACTAGGTTTGAG	0.637																																					p.L730I		.											.	.	0			c.C2188A						.						36	36	36					X																	24383065		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			TCCGCACTAGGTT																													X.37:g.24383065C>A		Somatic	479	1		WXS	Illumina GAIIx	Phase_I	320	171	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.637									A	24383065	C	A	24383065	1	1	31	0	1	0	0	0	0	0	0	0	5595	564	20	3		3	FAM48B1	23	24383065	IGR	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2	24383065	130887495	2281	7833	66	2									
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	26212653	26212653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccgcagagagtacaaGccctacttccctcagatcct	8	14	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:26212653G>T	ENST00000379034.1	+	2	839	c.690G>T	c.(688-690)aaG>aaT	p.K230N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GAGAGTACAAGCCCTACTTCC	0.502																																					p.K230N		.											.	MAGEB6-133	0			c.G690T						.						80	65	70					X																	26212653		2202	4300	6502	SO:0001583	missense	158809	exon2			GTACAAGCCCTAC	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.690G>T	X.37:g.26212653G>T	ENSP00000368320:p.Lys230Asn	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	126	66	NM_173523	0	0	0	0	0	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832917	0.32421	.	.	ENSG00000176746	ENST00000379034	T	0.05996	3.36	3.1	1.28	0.21552	.	0.126462	0.50627	U	0.000109	T	0.20333	0.0489	M	0.90650	3.135	0.09310	N	1	D	0.53745	0.962	P	0.60286	0.872	T	0.07009	-1.0795	10	0.87932	D	0	.	3.7894	0.08713	0.1495:0.2507:0.5997:0.0	.	230	Q8N7X4	MAGB6_HUMAN	N	230	ENSP00000368320:K230N	ENSP00000368320:K230N	K	+	3	2	MAGEB6	26122574	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.285000	0.08410	0.209000	0.20645	-0.199000	0.12753	AAG	.		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212653	G	T	26212653	3	4	31	1	0	0	0	0	1	0	0	0	9217	962	34	3	692	3	MAGEB6	23	26212653	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1829588	26212653	129057907	2282	7834											
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	26212780	26212780	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaagctaggcctccccagtGaaggaattctgagtggtgat	13	9	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:26212780G>T	ENST00000379034.1	+	2	966	c.817G>T	c.(817-819)Gaa>Taa	p.E273*		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	273	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCTCCCCAGTGAAGGAATTCT	0.527																																					p.E273X		.											.	MAGEB6-133	0			c.G817T						.						109	96	100					X																	26212780		2202	4300	6502	SO:0001587	stop_gained	158809	exon2			CCCAGTGAAGGAA	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.817G>T	X.37:g.26212780G>T	ENSP00000368320:p.Glu273*	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	123	64	NM_173523	0	0	0	0	0	Q6GS19|Q9H219	Nonsense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408111	0.62399	.	.	ENSG00000176746	ENST00000379034	.	.	.	3.29	0.562	0.17290	.	0.480577	0.18328	U	0.144564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3056	0.15801	0.4073:0.0:0.5927:0.0	.	.	.	.	X	273	.	ENSP00000368320:E273X	E	+	1	0	MAGEB6	26122701	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.253000	0.08794	-0.006000	0.14370	0.594000	0.82650	GAA	.		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212780	G	T	26212780	4	4	31	1	0	0	0	0	0	1	0	0	9217	1291	45	3	819	3	MAGEB6	23	26212780	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	127	26212780	129057780	2283	7835											
DCAF8L1	139425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	27998833	27998833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actggccagtcgggtgccacGctggttaaagtgtatggtac	14	9	0	0	rs148833488		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:27998833G>T	ENST00000441525.1	-	1	733	c.619C>A	c.(619-621)Cgt>Agt	p.R207S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	207										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGGTGCCACGCTGGTTAAAG	0.532																																					p.R207S		.											.	DCAF8L1-112	0			c.C619A						.						34	27	29					X																	27998833		2202	4299	6501	SO:0001583	missense	139425	exon1			TGCCACGCTGGTT		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.619C>A	X.37:g.27998833G>T	ENSP00000405222:p.Arg207Ser	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	184	93	NM_001017930	0	0	0	0	0	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	1.652	-0.513691	0.04200	.	.	ENSG00000226372	ENST00000441525	T	0.79749	-1.3	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411149	0.24386	N	0.038978	T	0.44932	0.1317	N	0.00855	-1.145	0.24258	N	0.995294	B	0.24618	0.107	B	0.24155	0.051	T	0.43442	-0.9391	10	0.23302	T	0.38	-2.5187	3.8222	0.08841	0.0:1.0E-4:0.5772:0.4227	.	207	A6NGE4	DC8L1_HUMAN	S	207	ENSP00000405222:R207S	ENSP00000405222:R207S	R	-	1	0	DCAF8L1	27908754	1.000000	0.71417	0.901000	0.35422	0.297000	0.27493	1.344000	0.33941	0.691000	0.31592	0.284000	0.19432	CGT	G|1.000;A|0.000		0.532	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27998833	G	T	27998833	3	4	31	1	0	0	0	0	1	0	0	0	4286	1087	38	2	1187	2	DCAF8L1	23	27998833	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1786053	27998833	127271727	2284	7836											
MAGEB1	4112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30268640	30268640	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaagagtaagctccgTgctcgtgagaaacgccgcaa	13	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:30268640T>A	ENST00000378981.3	+	4	351	c.30T>A	c.(28-30)cgT>cgA	p.R10R	MAGEB1_ENST00000397550.1_Silent_p.R10R|MAGEB1_ENST00000397548.2_Silent_p.R10R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	10										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTAAGCTCCGTGCTCGTGAGA	0.592																																					p.R10R		.											.	MAGEB1-130	0			c.T30A						.						42	33	36					X																	30268640		2202	4300	6502	SO:0001819	synonymous_variant	4112	exon3			GCTCCGTGCTCGT		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.30T>A	X.37:g.30268640T>A		Somatic	377	0		WXS	Illumina GAIIx	Phase_I	271	143	NM_177415	0	0	0	0	0	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																			.		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		A	30268640	T	A	30268640	2	1	31	1	0	0	0	0	0	0	0	1	9210	1683	59	5		5	MAGEB1	23	30268640	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	2269807	30268640	125001920	2285	7837											
TAB3	257397	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30849617	30849617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagaaaggtgcagctatcaCaattccatggagccccttcg	9	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:30849617C>A	ENST00000378933.1	-	8	2243	c.2066G>T	c.(2065-2067)tGt>tTt	p.C689F	TAB3_ENST00000378932.2_Missense_Mutation_p.C661F|TAB3_ENST00000378930.3_Missense_Mutation_p.C689F|TAB3_ENST00000288422.2_Missense_Mutation_p.C689F	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	689					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCAGCTATCACAATTCCATGG	0.517																																					p.C689F	Pancreas(164;1598 1985 29022 43301 49529)	.											.	TAB3-131	0			c.G2066T						.						144	97	113					X																	30849617		2202	4300	6502	SO:0001583	missense	257397	exon11			CTATCACAATTCC	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2066G>T	X.37:g.30849617C>A	ENSP00000368215:p.Cys689Phe	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	164	32	NM_152787	0	0	0	0	0	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882464	0.72294	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.64	5.64	0.86602	Zinc finger, RanBP2-type (3);	0.043571	0.85682	D	0.000000	D	0.87067	0.6085	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.994	D	0.88435	0.3038	10	0.87932	D	0	-3.2411	18.7077	0.91644	0.0:1.0:0.0:0.0	.	661;689	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	F	689;689;689;661	ENSP00000368215:C689F;ENSP00000368212:C689F;ENSP00000288422:C689F;ENSP00000368214:C661F	ENSP00000288422:C689F	C	-	2	0	TAB3	30759538	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.362000	0.80069	0.600000	0.82982	TGT	.		0.517	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		A	30849617	C	A	30849617	3	1	31	1	0	0	0	0	1	0	0	0	15544	478	17	3	76	3	TAB3	23	30849617	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	580977	30849617	124420943	2286	7838											
FTHL17	53940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	31090008	31090008	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagcgtgatgtggctgttGatggcggcgtcgcagttggt	17	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31090008G>C	ENST00000359202.3	-	1	162	c.63C>G	c.(61-63)atC>atG	p.I21M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	21	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGTGGCTGTTGATGGCGGCGT	0.632																																					p.I21M		.											.	FTHL17-130	0			c.C63G						.						66	56	60					X																	31090008		2202	4295	6497	SO:0001583	missense	53940	exon1			GCTGTTGATGGCG	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.63C>G	X.37:g.31090008G>C	ENSP00000368207:p.Ile21Met	Somatic	305	0		WXS	Illumina GAIIx	Phase_I	566	131	NM_031894	0	0	0	0	0	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841051	0.51057	.	.	ENSG00000132446	ENST00000359202	T	0.62788	0.0	3.55	1.66	0.24008	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.360890	0.27563	N	0.018813	T	0.67674	0.2918	L	0.48642	1.525	0.40323	D	0.978841	P	0.49090	0.919	P	0.60789	0.879	T	0.68032	-0.5516	10	0.72032	D	0.01	.	10.5044	0.44826	0.0:0.3707:0.6293:0.0	.	21	Q9BXU8	FHL17_HUMAN	M	21	ENSP00000368207:I21M	ENSP00000368207:I21M	I	-	3	3	FTHL17	30999929	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	1.910000	0.39927	0.305000	0.22832	0.538000	0.68166	ATC	.		0.632	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		C	31090008	G	C	31090008	3	2	31	1	0	0	0	0	1	0	0	0	6107	1280	45	3	492	3	FTHL17	23	31090008	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	240391	31090008	124180552	2287	7839											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	31222119	31222119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggctcaatgttactgcCcccaaaggatgcaacttcac	7	13	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31222119C>T	ENST00000357033.4	-	67	9972	c.9766G>A	c.(9766-9768)Ggc>Agc	p.G3256S	DMD_ENST00000541735.1_Missense_Mutation_p.G796S|DMD_ENST00000378707.3_Missense_Mutation_p.G796S|DMD_ENST00000361471.4_Missense_Mutation_p.G188S|DMD_ENST00000378702.4_Missense_Mutation_p.G188S|DMD_ENST00000343523.2_Missense_Mutation_p.G796S|DMD_ENST00000378677.2_Missense_Mutation_p.G3252S|DMD_ENST00000378680.2_Missense_Mutation_p.G188S|DMD_ENST00000378723.3_Missense_Mutation_p.G188S|DMD_ENST00000474231.1_Missense_Mutation_p.G796S|DMD_ENST00000359836.1_Missense_Mutation_p.G796S	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	3256	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)				ATGTTACTGCCCCCAAAGGAT	0.413																																					p.G3256S		.											.	DMD-265	0			c.G9766A						.						66	57	60					X																	31222119		2202	4300	6502	SO:0001583	missense	1756	exon67			TACTGCCCCCAAA	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.9766G>A	X.37:g.31222119C>T	ENSP00000354923:p.Gly3256Ser	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	220	50	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.462748|5.462748	0.96257|0.96257	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	T|T;T;T;T;T;T;T;T;T;T;T;T;T	0.77750|0.72942	-1.12|-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.35|5.35	5.35|5.35	0.76521|0.76521	.|EF-hand domain, type 2 (1);	0.000000|0.000000	0.37809|0.37809	U|U	0.001922|0.001922	D|D	0.85305|0.85305	0.5666|0.5666	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0;1.0;1.0;0.999;0.968;0.968;1.0;1.0;0.993;1.0;1.0;0.995;1.0	.|D;D;D;D;D;D;D;P;P;D;D;D;D;D;D;D	.|0.97110	.|0.998;0.993;1.0;1.0;1.0;1.0;0.993;0.878;0.9;1.0;1.0;0.967;0.998;0.999;0.962;1.0	D|D	0.87242|0.87242	0.2267|0.2267	7|10	.|0.87932	.|D	.|0	.|.	18.1204|18.1204	0.89569|0.89569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|188;3248;3256;3252;1915;1912;796;796;796;796;796;3133;188;188;188;188	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	E|S	984|3248;1915;1912;188;952;3252;3256;796;796;3256;3133;796;796;188;796;188;188;46	ENSP00000420046:G984E|ENSP00000367997:G188S;ENSP00000350765:G952S;ENSP00000367948:G3252S;ENSP00000354923:G3256S;ENSP00000352894:G796S;ENSP00000340057:G796S;ENSP00000367979:G796S;ENSP00000444119:G796S;ENSP00000367974:G188S;ENSP00000417123:G796S;ENSP00000354464:G188S;ENSP00000367951:G188S;ENSP00000367977:G46S	.|ENSP00000340057:G796S	G|G	-|-	2|1	0|0	DMD|DMD	31132040|31132040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.651000|7.651000	0.83577|0.83577	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	GGG|GGC	.		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31222119	C	T	31222119	3	4	31	1	0	0	0	0	1	0	0	0	4594	623	22	3	1433	3	DMD	23	31222119	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	132111	31222119	124048441	2288	7840											
DMD	1756	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chrX	31514988	31514988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattcatcatctttcagctGtagccacaccagaagttcct	5	12	4	1	rs398124073		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31514988G>T	ENST00000357033.4	-	57	8670	c.8464C>A	c.(8464-8466)Cag>Aag	p.Q2822K	DMD_ENST00000378677.2_Missense_Mutation_p.Q2818K|DMD_ENST00000378707.3_Missense_Mutation_p.Q362K|DMD_ENST00000474231.1_Missense_Mutation_p.Q362K|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.Q362K|DMD_ENST00000541735.1_Missense_Mutation_p.Q362K|DMD_ENST00000359836.1_Missense_Mutation_p.Q362K	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	2822					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)				TCTTTCAGCTGTAGCCACACC	0.488													G|||	7	0.0018543	8e-04	0.0043	3775	,	,		12517	0.002		0.001	False		,,,				2504	0				p.Q2822K		.											.	DMD-265	0			c.C8464A						.						64	50	55					X																	31514988		2202	4300	6502	SO:0001583	missense	1756	exon57			TCAGCTGTAGCCA	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.8464C>A	X.37:g.31514988G>T	ENSP00000354923:p.Gln2822Lys	Somatic	219	1		WXS	Illumina GAIIx	Phase_I	199	93	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.054006|3.054006	0.55218|0.55218	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.35320|.	U|.	0.003281|.	T|T	0.70806|0.70806	0.3266|0.3266	L|L	0.51422|0.51422	1.61|1.61	0.47308|0.47308	D|D	0.999387|0.999387	B;P;P;P;P;B;B;B;P;P;B|.	0.49447|.	0.234;0.69;0.924;0.69;0.69;0.026;0.138;0.138;0.69;0.794;0.411|.	B;B;P;B;B;B;B;B;B;B;B|.	0.62298|.	0.075;0.164;0.9;0.164;0.164;0.089;0.065;0.065;0.164;0.31;0.242|.	T|T	0.66787|0.66787	-0.5835|-0.5835	10|5	0.06099|.	T|.	0.92|.	.|.	19.1264|19.1264	0.93386|0.93386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2814;2822;2818;1481;1478;362;362;362;362;362;2699|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	K|K	2814;1481;1478;518;2818;2822;362;362;2822;2699;362;362;362|550	ENSP00000350765:Q518K;ENSP00000367948:Q2818K;ENSP00000354923:Q2822K;ENSP00000352894:Q362K;ENSP00000340057:Q362K;ENSP00000367979:Q362K;ENSP00000444119:Q362K;ENSP00000417123:Q362K|.	ENSP00000340057:Q362K|.	Q|T	-|-	1|2	0|0	DMD|DMD	31424909|31424909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.978000|5.978000	0.70501|0.70501	2.466000|2.466000	0.83321|0.83321	0.594000|0.594000	0.82650|0.82650	CAG|ACA	.		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31514988	G	T	31514988	3	4	31	1	0	0	0	0	1	0	0	0	4594	1386	48	3	2799	3	DMD	23	31514988	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	292869	31514988	123755572	2289	7841											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	32360319	32360320	+	Missense_Mutation	DNP	CC	CC	AA													ggctccactgccattgcggcCccatcctcagacaagccctc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:32360319_32360320CC>AA	ENST00000357033.4	-	41	6025_6026	c.5819_5820GG>TT	c.(5818-5820)gGG>gTT	p.G1940V	DMD_ENST00000378677.2_Missense_Mutation_p.G1936V	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	1940					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)				CCATTGCGGCCCCATCCTCAGA	0.49																																					p.G1940V		.											.	DMD-265	0			c.G5819T						.																																			SO:0001583	missense	1756	exon41			GCGGCCCCATCCT	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.5819_5820delinsAA	X.37:g.32360319_32360320delinsAA	ENSP00000354923:p.Gly1940Val	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	179	9	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	DNP	ENST00000357033.4	37	CCDS14233.1																																																																																			.		0.49	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		AA	32360320	CC	AA	32360319	3	1	31	1	0	0	0	0	1	0	0	0	4594	610	22	3	5541	3	DMD	23	32360319	Missense_Mutation	DNP	CC	TCGA-OR-A5KB-01A-11D-A30A-10	845331	32360319	122910241	2290	7842											
FAM47B	170062	ucsc.edu;bcgsc.ca	37	chrX	34960969	34960969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggggaccggaggccacaGgaccggccaaggtcccaagg	17	12	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:34960969G>T	ENST00000329357.5	+	1	57	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	7										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAGGCCACAGGACCGGCCAA	0.627																																					p.Q7H		.											.	FAM47B-196	0			c.G21T						.						24	20	21					X																	34960969		2202	4297	6499	SO:0001583	missense	170062	exon1			GCCACAGGACCGG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.21G>T	X.37:g.34960969G>T	ENSP00000328307:p.Gln7His	Somatic	368	4		WXS	Illumina GAIIx	Phase_I	271	162	NM_152631	0	0	0	0	0	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351109	0.24512	.	.	ENSG00000189132	ENST00000329357	T	0.18810	2.19	1.01	1.01	0.19927	.	.	.	.	.	T	0.28532	0.0706	M	0.69823	2.125	0.09310	N	1	D	0.59767	0.986	P	0.51135	0.66	T	0.11470	-1.0586	9	0.46703	T	0.11	.	5.0696	0.14600	0.0:0.0:1.0:0.0	.	7	Q8NA70	FA47B_HUMAN	H	7	ENSP00000328307:Q7H	ENSP00000328307:Q7H	Q	+	3	2	FAM47B	34870890	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.364000	0.20325	0.794000	0.33899	0.468000	0.43344	CAG	.		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34960969	G	T	34960969	3	4	31	1	0	0	0	0	1	0	0	0	5592	991	35	3	23	3	FAM47B	23	34960969	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2600650	34960969	120309591	2291	7843											
FAM47B	170062	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	34961915	34961915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagtctctgcccggagCctcccgaggctggagtgtcc	13	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:34961915C>A	ENST00000329357.5	+	1	1003	c.967C>A	c.(967-969)Cct>Act	p.P323T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	323	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGCCCGGAGCCTCCCGAGGC	0.582																																					p.P323T		.											.	FAM47B-196	0			c.C967A						.						55	53	54					X																	34961915		2202	4300	6502	SO:0001583	missense	170062	exon1			CCGGAGCCTCCCG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.967C>A	X.37:g.34961915C>A	ENSP00000328307:p.Pro323Thr	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	80	43	NM_152631	0	0	0	0	0	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181498	0.21787	.	.	ENSG00000189132	ENST00000329357	T	0.22539	1.95	0.235	0.235	0.15431	.	.	.	.	.	T	0.38427	0.1040	M	0.78801	2.425	0.23162	N	0.998195	D	0.69078	0.997	D	0.65010	0.931	T	0.12915	-1.0529	9	0.41790	T	0.15	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	323	Q8NA70	FA47B_HUMAN	T	323	ENSP00000328307:P323T	ENSP00000328307:P323T	P	+	1	0	FAM47B	34871836	0.988000	0.35896	0.152000	0.22495	0.155000	0.21991	1.000000	0.29770	0.288000	0.22398	0.292000	0.19580	CCT	.		0.582	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		A	34961915	C	A	34961915	3	1	31	1	0	0	0	0	1	0	0	0	5592	739	26	3	969	3	FAM47B	23	34961915	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	946	34961915	120308645	2292	7844											
CXorf22	170063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	35971805	35971805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaagtaaagatggattTttgagagatgatgactataa	12	1	0	5			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:35971805T>G	ENST00000297866.5	+	7	1209	c.1143T>G	c.(1141-1143)ttT>ttG	p.F381L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	381										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGATGGATTTTTGAGAGATG	0.323																																					p.F381L		.											.	CXorf22-131	0			c.T1143G						.						76	70	72					X																	35971805		2202	4298	6500	SO:0001583	missense	170063	exon7			TGGATTTTTGAGA	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1143T>G	X.37:g.35971805T>G	ENSP00000297866:p.Phe381Leu	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	163	36	NM_152632	0	0	0	0	0	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802924	0.50315	.	.	ENSG00000165164	ENST00000297866	T	0.54866	0.55	5.69	5.69	0.88448	.	0.104827	0.64402	D	0.000003	T	0.62344	0.2420	M	0.64404	1.975	0.31296	N	0.688908	D	0.63046	0.992	P	0.61658	0.892	T	0.61402	-0.7070	10	0.07325	T	0.83	-10.8843	13.6367	0.62227	0.0:0.0:0.0:1.0	.	381	Q6ZTR5	CX022_HUMAN	L	381	ENSP00000297866:F381L	ENSP00000297866:F381L	F	+	3	2	CXorf22	35881726	0.999000	0.42202	0.664000	0.29753	0.044000	0.14063	1.377000	0.34317	1.905000	0.55150	0.441000	0.28932	TTT	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		G	35971805	T	G	35971805	3	3	31	1	0	0	0	0	1	0	0	0	4111	1838	64	5	1169	5	CXorf22	23	35971805	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1009890	35971805	119298755	2293	7845											
FAM47C	442444	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	37027035	37027035	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtaaatacccctgtggGgaattctcccctcggcctcc	9	16	1	0	rs61730915	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:37027035G>T	ENST00000358047.3	+	1	604	c.552G>T	c.(550-552)ggG>ggT	p.G184G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	184										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						ACCCCTGTGGGGAATTCTCCC	0.642																																					p.G184G		.											.	FAM47C-111	0			c.G552T						.						33	33	33					X																	37027035		2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			CTGTGGGGAATTC	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.552G>T	X.37:g.37027035G>T		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	71	49	NM_001013736	0	0	0	0	0	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																			G|0.992;A|0.008		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37027035	G	T	37027035	2	4	31	1	0	0	0	0	0	0	0	1	5593	1219	43	3		3	FAM47C	23	37027035	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1055230	37027035	118243525	2294	7846											
FAM47C	442444	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	37028109	37028109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcacctcctgagagtagCgtatctcatctccgcccaga	9	15	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:37028109C>A	ENST00000358047.3	+	1	1678	c.1626C>A	c.(1624-1626)agC>agA	p.S542R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	542										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						CTGAGAGTAGCGTATCTCATC	0.622																																					p.S542R		.											.	FAM47C-111	0			c.C1626A						.						81	83	83					X																	37028109		2202	4300	6502	SO:0001583	missense	442444	exon1			GAGTAGCGTATCT	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.1626C>A	X.37:g.37028109C>A	ENSP00000367913:p.Ser542Arg	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	92	41	NM_001013736	0	0	0	0	0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.271640	0.01421	.	.	ENSG00000198173	ENST00000358047	T	0.12039	2.72	1.66	-2.04	0.07343	.	.	.	.	.	T	0.02807	0.0084	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46034	-0.9220	9	0.12430	T	0.62	.	4.4194	0.11472	0.2407:0.5208:0.2385:0.0	.	542	Q5HY64	FA47C_HUMAN	R	542	ENSP00000367913:S542R	ENSP00000367913:S542R	S	+	3	2	FAM47C	36938030	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.245000	0.02899	-0.079000	0.12707	-0.783000	0.03347	AGC	.		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028109	C	A	37028109	3	1	31	1	0	0	0	0	1	0	0	0	5593	767	27	2	1628	2	FAM47C	23	37028109	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1074	37028109	118242451	2295	7847											
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	41025466	41025466	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggattagattacctttggaGggtaagtcaaaagtaggaac	12	4	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:41025466G>C	ENST00000324545.8	+	16	2960	c.2327G>C	c.(2326-2328)aGg>aCg	p.R776T	USP9X_ENST00000378308.2_Splice_Site_p.R776T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	776					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						TACCTTTGGAGGGTAAGTCAA	0.343																																					p.R776T	Ovarian(172;1807 2695 35459 49286)	.											.	USP9X-563	0			c.G2327C						.						37	34	35					X																	41025466		2013	4187	6200	SO:0001630	splice_region_variant	8239	exon16			TTTGGAGGGTAAG	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.2328+1G>C	X.37:g.41025466G>C		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	48	30	NM_001039591	0	0	0	0	0	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463621	0.84425	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.68593	2.085	0.80722	D	1	D;P	0.55800	0.973;0.921	P;P	0.56434	0.798;0.535	T	0.79773	-0.1662	10	0.56958	D	0.05	.	17.7657	0.88477	0.0:0.0:1.0:0.0	.	776;776	Q93008-1;Q93008	.;USP9X_HUMAN	T	776	ENSP00000367558:R776T;ENSP00000316357:R776T	ENSP00000316357:R776T	R	+	2	0	USP9X	40910410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.694000	0.98686	2.213000	0.71641	0.600000	0.82982	AGG	.		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Missense_Mutation	C	41025466	G	C	41025466	5	2	31	1	0	0	0	0	0	0	1	0	17139	1014	35	3	2385	3	USP9X	23	41025466	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3997357	41025466	114245094	2296	7848											
CHST7	56548	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	46433693	46433693	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatctacgtgcatgccacCtggcgcaccggctcgtcctt	9	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:46433693C>A	ENST00000276055.3	+	1	475	c.327C>A	c.(325-327)acC>acA	p.T109T		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	109					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGCATGCCACCTGGCGCACCG	0.607																																					p.T109T		.											.	CHST7-133	0			c.C327A						.						37	32	34					X																	46433693		2203	4300	6503	SO:0001819	synonymous_variant	56548	exon1			TGCCACCTGGCGC	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.327C>A	X.37:g.46433693C>A		Somatic	138	2		WXS	Illumina GAIIx	Phase_I	185	39	NM_019886	0	0	0	0	0	O75667	Silent	SNP	ENST00000276055.3	37	CCDS14268.1																																																																																			.		0.607	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886		A	46433693	C	A	46433693	2	1	31	1	0	0	0	0	0	0	0	1	3416	668	24	3		3	CHST7	23	46433693	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	5408227	46433693	108836867	2297	7849											
SLC9A7	84679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	46541866	46541866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactttccgctgacattcaCtaataaggtactgaaggccc	8	11	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:46541866C>A	ENST00000328306.4	-	2	455	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L		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	144					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						CTGACATTCACTAATAAGGTA	0.493																																					p.V144L	Pancreas(118;454 1696 1930 13865 39976)	.											.	SLC9A7-132	0			c.G430T						.						97	74	82					X																	46541866		2203	4300	6503	SO:0001583	missense	84679	exon2			CATTCACTAATAA	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.430G>T	X.37:g.46541866C>A	ENSP00000330320:p.Val144Leu	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	133	22	NM_001257291	0	0	0	0	0	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067871	0.55539	.	.	ENSG00000065923	ENST00000328306	T	0.56941	0.43	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.075228	0.53938	D	0.000049	T	0.38665	0.1049	N	0.11313	0.125	0.58432	D	0.999999	B	0.13594	0.008	B	0.23150	0.044	T	0.15093	-1.0449	10	0.27785	T	0.31	.	19.3572	0.94420	0.0:1.0:0.0:0.0	.	144	Q96T83	SL9A7_HUMAN	L	144	ENSP00000330320:V144L	ENSP00000330320:V144L	V	-	1	0	SLC9A7	46426810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.075000	0.71261	2.524000	0.85096	0.600000	0.82982	GTG	.		0.493	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		A	46541866	C	A	46541866	3	1	31	1	0	0	0	0	1	0	0	0	14764	565	20	3	1811	3	SLC9A7	23	46541866	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	108173	46541866	108728694	2298	7850											
NDUFB11	54539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47002022	47002022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgtgcacctgtagtcaGgcagataggccacaaaggtg	12	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47002022G>T	ENST00000377811.3	-	2	1153	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000377604.3_5'Flank|RBM10_ENST00000345781.6_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.P110H	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	110					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTGTAGTCAGGCAGATAGGC	0.552																																					p.P110H	Ovarian(77;454 1296 7908 21551 37072)	.											.	NDUFB11-130	0			c.C329A						.						138	98	111					X																	47002022		2203	4300	6503	SO:0001583	missense	54539	exon2			TAGTCAGGCAGAT	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.329C>A	X.37:g.47002022G>T	ENSP00000367042:p.Pro110His	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	202	48	NM_019056	0	0	0	0	0	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.572347	0.65765	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.86420	2.815	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.83285	-0.0036	9	0.87932	D	0	-10.044	11.4976	0.50417	0.0:0.0:1.0:0.0	.	110;110	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	H	110;114;110	.	ENSP00000276062:P110H	P	-	2	0	NDUFB11	46886966	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.321000	0.65846	1.992000	0.58205	0.415000	0.27848	CCT	.		0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		T	47002022	G	T	47002022	3	4	31	1	0	0	0	0	1	0	0	0	10319	1000	35	3	170	3	NDUFB11	23	47002022	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	460156	47002022	108268538	2299	7851											
NDUFB11	54539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47002127	47002127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacggggtccttgtcataaCcatgggagtctgggttctgt	13	8	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47002127C>A	ENST00000377811.3	-	2	1048	c.224G>T	c.(223-225)gGt>gTt	p.G75V	RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000377604.3_5'Flank|RBM10_ENST00000345781.6_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.G75V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	75					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CTTGTCATAACCATGGGAGTC	0.517																																					p.G75V	Ovarian(77;454 1296 7908 21551 37072)	.											.	NDUFB11-130	0			c.G224T						.						149	123	132					X																	47002127		2203	4300	6503	SO:0001583	missense	54539	exon2			TCATAACCATGGG	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.224G>T	X.37:g.47002127C>A	ENSP00000367042:p.Gly75Val	Somatic	322	0		WXS	Illumina GAIIx	Phase_I	253	48	NM_019056	0	0	0	0	0	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	c	17.91	3.505069	0.64410	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83477	0.0062	9	0.87932	D	0	-10.8043	11.7664	0.51933	0.0:1.0:0.0:0.0	.	75;75	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	V	75;79;75	.	ENSP00000276062:G75V	G	-	2	0	NDUFB11	46887071	1.000000	0.71417	0.040000	0.18447	0.946000	0.59487	5.582000	0.67477	2.061000	0.61500	0.538000	0.68166	GGT	.		0.517	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		A	47002127	C	A	47002127	3	1	31	1	0	0	0	0	1	0	0	0	10319	507	18	3	275	3	NDUFB11	23	47002127	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	105	47002127	108268433	2300	7852											
RBM10	8241	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47032530	47032530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctccccgtatagatcCgtggccagctgcagtcgcac	10	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47032530C>A	ENST00000377604.3	+	5	1178	c.436C>A	c.(436-438)Cgt>Agt	p.R146S	RBM10_ENST00000329236.7_Missense_Mutation_p.R69S|RBM10_ENST00000345781.6_Missense_Mutation_p.R69S	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	146	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						CGTATAGATCCGTGGCCAGCT	0.607																																					p.R211S	Melanoma(171;120 2705 19495 39241)	.											.	RBM10-626	0			c.C631A						.						84	68	73					X																	47032530		2203	4300	6503	SO:0001583	missense	8241	exon5			TAGATCCGTGGCC	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.436C>A	X.37:g.47032530C>A	ENSP00000366829:p.Arg146Ser	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	137	25	NM_001204468	0	0	0	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873747	0.72180	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.09911	2.93;3.16;3.16	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.081577	0.51477	D	0.000094	T	0.30916	0.0780	M	0.79475	2.455	0.39956	D	0.974601	D;D;D;D;D;D	0.89917	0.994;0.99;0.999;0.99;0.99;1.0	D;D;D;P;D;D	0.79784	0.932;0.973;0.972;0.839;0.912;0.993	T	0.11203	-1.0597	10	0.66056	D	0.02	-5.5319	10.7407	0.46152	0.0:1.0:0.0:0.0	.	69;211;146;69;146;18	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175;Q6PKH5	.;.;.;.;RBM10_HUMAN;.	S	146;69;69	ENSP00000366829:R146S;ENSP00000328848:R69S;ENSP00000329659:R69S	ENSP00000328848:R69S	R	+	1	0	RBM10	46917474	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.328000	0.72915	1.641000	0.50575	0.436000	0.28706	CGT	.		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		A	47032530	C	A	47032530	3	1	31	1	0	0	0	0	1	0	0	0	13156	652	23	2	450	2	RBM10	23	47032530	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	30403	47032530	108238030	2301	7853											
ZNF81	347344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47705685	47705685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgccagctaacgaggacGctccccagccaggggaacat	11	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47705685G>T	ENST00000376954.1	+	3	387	c.19G>T	c.(19-21)Gct>Tct	p.A7S	ZNF81_ENST00000334937.4_Missense_Mutation_p.A7S|ZNF81_ENST00000483520.1_3'UTR|ZNF81_ENST00000338637.7_Missense_Mutation_p.A7S			P51508	ZNF81_HUMAN	zinc finger protein 81	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAACGAGGACGCTCCCCAGCC	0.557																																					p.A7S		.											.	ZNF81-130	0			c.G19T						.						36	38	37					X																	47705685		2007	4152	6159	SO:0001583	missense	347344	exon2			GAGGACGCTCCCC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.19G>T	X.37:g.47705685G>T	ENSP00000366153:p.Ala7Ser	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	89	24	NM_007137	0	0	0	0	0	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130019	0.01756	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000334937;ENST00000376950;ENST00000399918	T;T;T;T	0.05717	3.4;3.4;4.83;5.76	3.56	-4.31	0.03698	.	.	.	.	.	T	0.01353	0.0044	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47018	-0.9149	9	0.07482	T	0.82	.	8.296	0.31986	0.1428:0.0:0.6385:0.2188	.	7	P51508	ZNF81_HUMAN	S	7	ENSP00000366153:A7S;ENSP00000341151:A7S;ENSP00000334641:A7S;ENSP00000366149:A7S	ENSP00000334641:A7S	A	+	1	0	ZNF81	47590629	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-0.617000	0.05584	-1.020000	0.03354	-1.570000	0.00873	GCT	.		0.557	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		T	47705685	G	T	47705685	3	4	31	1	0	0	0	0	1	0	0	0	18222	1087	38	2	21	2	ZNF81	23	47705685	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	673155	47705685	107564875	2302	7854											
ZNF630	57232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47919260	47919260	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgttataatttagtaAgtctgaattagacttcaagc	7	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47919260A>T	ENST00000409324.3	-	5	797	c.571T>A	c.(571-573)Tta>Ata	p.L191I	ZNF630_ENST00000442455.3_Missense_Mutation_p.L177I|ZNF630_ENST00000276054.4_Missense_Mutation_p.L67I|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TAATTTAGTAAGTCTGAATTA	0.373																																					p.L191I		.											.	ZNF630-131	0			c.T571A						.						51	44	46					X																	47919260		2194	4288	6482	SO:0001583	missense	57232	exon5			TTAGTAAGTCTGA	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.571T>A	X.37:g.47919260A>T	ENSP00000386393:p.Leu191Ile	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	34	10	NM_001037735	0	0	0	0	0	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	6.806	0.517718	0.13005	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686	T;T;T;T	0.09538	2.97;2.98;3.06;4.75	2.35	2.35	0.29111	.	.	.	.	.	T	0.14442	0.0349	M	0.70787	2.145	0.09310	N	1	P	0.50819	0.939	B	0.42738	0.396	T	0.14392	-1.0474	9	0.87932	D	0	.	7.7652	0.28976	1.0:0.0:0.0:0.0	.	191	Q2M218	ZN630_HUMAN	I	177;67;191;191	ENSP00000393163:L177I;ENSP00000354683:L67I;ENSP00000386393:L191I;ENSP00000407278:L191I	ENSP00000354683:L67I	L	-	1	2	ZNF630	47804204	0.004000	0.15560	0.002000	0.10522	0.023000	0.10783	1.724000	0.38064	0.980000	0.38523	0.441000	0.28932	TTA	.		0.373	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		T	47919260	A	T	47919260	3	4	31	1	0	0	0	0	1	0	0	0	18102	69	3	5	1406	5	ZNF630	23	47919260	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	213575	47919260	107351300	2303	7855											
SLC38A5	92745	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	48319044	48319044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccacgcacagggaacagCacgactggcacagtgagggt	14	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48319044C>A	ENST00000376876.3	-	13	1902	c.1059G>T	c.(1057-1059)gtG>gtT	p.V353V	SLC38A5_ENST00000376875.1_Silent_p.V302V|SLC38A5_ENST00000317669.5_Silent_p.V353V|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	353					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CAGGGAACAGCACGACTGGCA	0.617																																					p.V353V		.											.	SLC38A5-133	0			c.G1059T						.						88	59	69					X																	48319044		2203	4300	6503	SO:0001819	synonymous_variant	92745	exon14			GAACAGCACGACT	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1059G>T	X.37:g.48319044C>A		Somatic	152	1		WXS	Illumina GAIIx	Phase_I	172	37	NM_033518	0	0	0	0	0	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	CCDS14293.1																																																																																			.		0.617	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		A	48319044	C	A	48319044	2	1	31	1	0	0	0	0	0	0	0	1	14652	697	25	3		3	SLC38A5	23	48319044	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	399784	48319044	106951516	2304	7856											
WAS	7454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48547809	48547809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagaagagaagcagagCcatccactcctccggtgagc	12	12	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48547809C>T	ENST00000376701.4	+	11	1514	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	480					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGAAGCAGAGCCATCCACTCC	0.627			"Mis, N, F, S"			lymphoma																															p.A480V		.		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	.	WAS-563	0			c.C1439T						.						31	32	31					X																	48547809		2203	4299	6502	SO:0001583	missense	7454	exon11			GCAGAGCCATCCA	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1439C>T	X.37:g.48547809C>T	ENSP00000365891:p.Ala480Val	Somatic	360	0		WXS	Illumina GAIIx	Phase_I	342	75	NM_000377	0	0	0	0	0	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305031	0.23736	.	.	ENSG00000015285	ENST00000376701	D	0.95137	-3.62	4.35	-1.44	0.08856	Wiscott-Aldrich syndrome, C-terminal (1);	0.401940	0.24256	N	0.040131	D	0.83422	0.5251	N	0.17278	0.47	0.28523	N	0.912951	B	0.02656	0.0	B	0.06405	0.002	T	0.70432	-0.4873	10	0.10902	T	0.67	-0.6557	5.092	0.14713	0.0:0.3761:0.1528:0.4712	.	480	P42768	WASP_HUMAN	V	480	ENSP00000365891:A480V	ENSP00000365891:A480V	A	+	2	0	WAS	48432753	0.818000	0.29161	0.114000	0.21550	0.824000	0.46624	-0.087000	0.11215	-0.253000	0.09514	-0.405000	0.06341	GCC	.		0.627	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		T	48547809	C	T	48547809	3	4	31	1	0	0	0	0	1	0	0	0	17300	739	26	3	1481	3	WAS	23	48547809	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	228765	48547809	106722751	2305	7857											
HDAC6	10013	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	48676461	48676461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccccaggatcctgattgtgGattgggatgtccaccacggt	12	11	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48676461G>T	ENST00000334136.5	+	21	2117	c.1939G>T	c.(1939-1941)Gat>Tat	p.D647Y	HDAC6_ENST00000444343.2_Missense_Mutation_p.D661Y|HDAC6_ENST00000376619.2_Missense_Mutation_p.D647Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	647	Histone deacetylase 2.				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)	CCTGATTGTGGATTGGGATGT	0.597																																					p.D647Y	Pancreas(112;205 1675 2305 8976 15959)	.											.	HDAC6-230	0			c.G1939T						.						83	55	64					X																	48676461		2201	4294	6495	SO:0001583	missense	10013	exon21			ATTGTGGATTGGG	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.1939G>T	X.37:g.48676461G>T	ENSP00000334061:p.Asp647Tyr	Somatic	271	1		WXS	Illumina GAIIx	Phase_I	286	51	NM_006044	0	0	0	0	0	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246324	0.80024	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	D;D;D	0.95069	-3.6;-3.6;-3.6	5.35	5.35	0.76521	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.98936	4.375	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	0.99727	1.1011	10	0.87932	D	0	-21.9785	15.4029	0.74855	0.0:0.0:1.0:0.0	.	637;295;647	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	Y	661;647;647;647	ENSP00000398566:D661Y;ENSP00000334061:D647Y;ENSP00000365804:D647Y	ENSP00000334061:D647Y	D	+	1	0	HDAC6	48561405	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	9.009000	0.93606	2.229000	0.72834	0.600000	0.82982	GAT	.		0.597	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		T	48676461	G	T	48676461	3	4	31	1	0	0	0	0	1	0	0	0	7038	1174	41	3	2017	3	HDAC6	23	48676461	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	128652	48676461	106594099	2306	7858											
HDAC6	10013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48678641	48678641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgggccttgccagtggCcgcattatccttatcctaga	10	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48678641C>A	ENST00000334136.5	+	23	2494	c.2316C>A	c.(2314-2316)ggC>ggA	p.G772G	HDAC6_ENST00000444343.2_Silent_p.G786G|HDAC6_ENST00000376619.2_Silent_p.G772G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	772	Histone deacetylase 2.				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)	TTGCCAGTGGCCGCATTATCC	0.572																																					p.G772G	Pancreas(112;205 1675 2305 8976 15959)	.											.	HDAC6-230	0			c.C2316A						.						71	56	61					X																	48678641		2203	4300	6503	SO:0001819	synonymous_variant	10013	exon23			CAGTGGCCGCATT	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.2316C>A	X.37:g.48678641C>A		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	80	15	NM_006044	0	0	0	0	0	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																			.		0.572	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48678641	C	A	48678641	2	1	31	1	0	0	0	0	0	0	0	1	7038	726	26	3		3	HDAC6	23	48678641	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2180	48678641	106591919	2307	7859											
OTUD5	55593	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48814313	48814313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctcactgttgtagcCtgcgccgacctcctcacgct	8	18	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48814313C>A	ENST00000156084.4	-	1	580	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	OTUD5_ENST00000376488.3_Missense_Mutation_p.G174C|OTUD5_ENST00000396743.3_Missense_Mutation_p.G174C|OTUD5_ENST00000428668.2_Intron|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	174	Gly-rich.				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						CTGTTGTAGCCTGCGCCGACC	0.682																																					p.G174C		.											.	OTUD5-541	0			c.G520T						.						33	19	24					X																	48814313		2201	4296	6497	SO:0001583	missense	55593	exon1			TGTAGCCTGCGCC		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.520G>T	X.37:g.48814313C>A	ENSP00000156084:p.Gly174Cys	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	148	31	NM_001136157	0	0	0	0	0	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706630	0.68615	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;D;D	0.84370	-1.84;-1.84;-1.84	4.57	3.7	0.42460	.	0.000000	0.64402	D	0.000002	D	0.89255	0.6663	M	0.63843	1.955	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88456	0.3052	10	0.87932	D	0	-23.0956	7.5967	0.28052	0.0:0.882:0.0:0.118	.	174;174	Q96G74;G5E9D7	OTUD5_HUMAN;.	C	174;150;47;174;174	ENSP00000379969:G174C;ENSP00000156084:G174C;ENSP00000365671:G174C	ENSP00000156084:G174C	G	-	1	0	OTUD5	48699257	1.000000	0.71417	0.790000	0.31976	0.687000	0.40016	5.527000	0.67123	1.045000	0.40225	0.600000	0.82982	GGC	.		0.682	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		A	48814313	C	A	48814313	3	1	31	1	0	0	0	0	1	0	0	0	11354	681	24	3	1231	3	OTUD5	23	48814313	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	135672	48814313	106456247	2308	7860											
KCND1	3750	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	48822694	48822694	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcttcactgaaggtgagctCatctgtgaactcatggcact	11	10	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48822694C>G	ENST00000218176.3	-	5	2783	c.1486G>C	c.(1486-1488)Gag>Cag	p.E496Q	KCND1_ENST00000376477.1_Missense_Mutation_p.E119Q	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	496					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AAGGTGAGCTCATCTGTGAAC	0.622																																					p.E496Q		.											.	KCND1-133	0			c.G1486C						.						23	20	21					X																	48822694		2174	4272	6446	SO:0001583	missense	3750	exon5			TGAGCTCATCTGT	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1486G>C	X.37:g.48822694C>G	ENSP00000218176:p.Glu496Gln	Somatic	385	1		WXS	Illumina GAIIx	Phase_I	418	76	NM_004979	0	0	0	0	0	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.136657|2.136657	0.37728|0.37728	.|.	.|.	ENSG00000102057|ENSG00000102057	ENST00000376477;ENST00000218176|ENST00000419374	D;D|.	0.84944|.	-1.92;-1.92|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.061588|.	0.64402|.	D|.	0.000007|.	T|.	0.60222|.	0.2252|.	L|L	0.48362|0.48362	1.52|1.52	0.58432|0.58432	D|D	0.999995|0.999995	B|.	0.23128|.	0.08|.	B|.	0.30716|.	0.119|.	T|.	0.58042|.	-0.7706|.	10|.	0.52906|.	T|.	0.07|.	.|.	12.3589|12.3589	0.55192|0.55192	0.0:0.834:0.166:0.0|0.0:0.834:0.166:0.0	.|.	496|.	Q9NSA2|.	KCND1_HUMAN|.	Q|S	119;496|67	ENSP00000365660:E119Q;ENSP00000218176:E496Q|.	ENSP00000218176:E496Q|.	E|X	-|-	1|2	0|2	KCND1|KCND1	48707638|48707638	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.649000|0.649000	0.38597|0.38597	4.748000|4.748000	0.62148|0.62148	2.149000|2.149000	0.67028|0.67028	0.523000|0.523000	0.50628|0.50628	GAG|TGA	.		0.622	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		G	48822694	C	G	48822694	3	3	31	1	0	0	0	0	1	0	0	0	8045	835	29	3	465	3	KCND1	23	48822694	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	8381	48822694	106447866	2309	7861											
GRIPAP1	56850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48832699	48832699	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtctctgccagccgcTgaaagagctcagccacttcc	10	15	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48832699T>A	ENST00000376441.1	-	23	2172	c.2138A>T	c.(2137-2139)cAg>cTg	p.Q713L	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.Q682L|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.Q668L|GRIPAP1_ENST00000473581.1_5'Flank	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	713						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGCCAGCCGCTGAAAGAGCTC	0.607																																					p.Q713L		.											.	GRIPAP1-227	0			c.A2138T						.						9	9	9					X																	48832699		2183	4269	6452	SO:0001583	missense	56850	exon23			AGCCGCTGAAAGA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2138A>T	X.37:g.48832699T>A	ENSP00000365624:p.Gln713Leu	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	228	46	NM_020137	0	0	0	0	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.529577	0.85706	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	4.38	4.38	0.52667	.	0.246164	0.34750	N	0.003703	T	0.51873	0.1700	L	0.47716	1.5	0.80722	D	1	P	0.40731	0.728	B	0.41764	0.366	T	0.55717	-0.8097	9	0.56958	D	0.05	-19.3116	10.3186	0.43751	0.0:0.0:0.0:1.0	.	713	Q4V328	GRAP1_HUMAN	L	682;668;713;682	.	ENSP00000365608:Q682L	Q	-	2	0	GRIPAP1	48717643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.726000	0.61986	1.628000	0.50416	0.433000	0.28618	CAG	.		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		A	48832699	T	A	48832699	3	1	31	1	0	0	0	0	1	0	0	0	6816	1580	55	5	403	5	GRIPAP1	23	48832699	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	10005	48832699	106437861	2310	7862											
GRIPAP1	56850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48853737	48853737	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcagctttgcctgcagCatctcattttcactcagcaa	7	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48853737C>G	ENST00000376441.1	-	5	265	c.231G>C	c.(229-231)atG>atC	p.M77I	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.M77I|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.M77I	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	77						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTGCCTGCAGCATCTCATTTT	0.537																																					p.M77I		.											.	GRIPAP1-227	0			c.G231C						.						93	59	71					X																	48853737		2203	4295	6498	SO:0001583	missense	56850	exon5			CTGCAGCATCTCA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.231G>C	X.37:g.48853737C>G	ENSP00000365624:p.Met77Ile	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	51	13	NM_020137	0	0	0	0	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	17.36	3.368904	0.61624	.	.	ENSG00000068400	ENST00000376425;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T	0.27402	1.67;1.67;1.67	5.4	5.4	0.78164	.	0.049193	0.85682	D	0.000000	T	0.49949	0.1587	L	0.57536	1.79	0.35655	D	0.81205	P;P	0.48294	0.908;0.908	D;D	0.64144	0.922;0.922	T	0.57682	-0.7769	10	0.39692	T	0.17	-13.7813	15.0921	0.72204	0.0:1.0:0.0:0.0	.	77;77	Q4V328-2;Q4V328	.;GRAP1_HUMAN	I	77	ENSP00000365608:M77I;ENSP00000365624:M77I;ENSP00000365606:M77I	ENSP00000365606:M77I	M	-	3	0	GRIPAP1	48738681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.380000	0.73158	2.267000	0.75376	0.515000	0.50301	ATG	.		0.537	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		G	48853737	C	G	48853737	3	3	31	1	0	0	0	0	1	0	0	0	6816	710	25	3	2436	3	GRIPAP1	23	48853737	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	21038	48853737	106416823	2311	7863											
PRAF2	11230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48929617	48929617	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatgctctcgatcttgttctCaatcttgttcttaaggttgc	7	9	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48929617C>G	ENST00000376390.4	-	3	531	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	WDR45_ENST00000553851.1_Missense_Mutation_p.E264Q|AF196779.12_ENST00000376358.3_Missense_Mutation_p.E264Q|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	150					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						ATCTTGTTCTCAATCTTGTTC	0.587																																					p.E150Q		.											.	PRAF2-130	0			c.G448C						.						107	74	85					X																	48929617		2203	4300	6503	SO:0001583	missense	11230	exon3			TGTTCTCAATCTT	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"PRA1 domain family 2"			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.448G>C	X.37:g.48929617C>G	ENSP00000365570:p.Glu150Gln	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	73	19	NM_007213	0	0	0	0	0	B2RD20	Missense_Mutation	SNP	ENST00000376390.4	37	CCDS14317.1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.323170	0.60634	.	.	ENSG00000243279;ENSG00000196998;ENSG00000250232	ENST00000376390;ENST00000553851;ENST00000376358	T;T;T	0.54675	0.56;0.56;0.56	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	T	0.71651	0.3365	M	0.77486	2.375	0.23969	N	0.996312	D;D	0.89917	0.972;1.0	P;D	0.72982	0.808;0.979	T	0.65772	-0.6087	10	0.87932	D	0	-18.7172	14.8242	0.70097	0.0:1.0:0.0:0.0	.	264;150	A6NM71;O60831	.;PRAF2_HUMAN	Q	150;264;264	ENSP00000365570:E150Q;ENSP00000451962:E264Q;ENSP00000365536:E264Q	ENSP00000365536:E264Q	E	-	1	0	PRAF2;AF196779.12;WDR45	48816561	1.000000	0.71417	0.985000	0.45067	0.297000	0.27493	3.472000	0.53114	1.931000	0.55961	0.540000	0.68198	GAG	.		0.587	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		G	48929617	C	G	48929617	3	3	31	1	0	0	0	0	1	0	0	0	12464	835	29	3	92	3	PRAF2	23	48929617	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	75880	48929617	106340943	2312	7864											
WDR45	11152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48935536	48935536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctccacgttgtagatGcgcacacctgtctccatggc	11	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48935536G>A	ENST00000376372.3	-	3	271	c.90C>T	c.(88-90)cgC>cgT	p.R30R	WDR45_ENST00000553851.1_Silent_p.R30R|WDR45_ENST00000356463.3_Silent_p.R30R|WDR45_ENST00000322995.8_Silent_p.R30R|WDR45_ENST00000376368.2_Silent_p.R30R|WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000473974.1_Silent_p.R30R|AF196779.12_ENST00000376358.3_Silent_p.R30R|WDR45_ENST00000396681.4_Silent_p.R30R|WDR45_ENST00000485908.1_Silent_p.R30R	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	30					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGTTGTAGATGCGCACACCTG	0.607																																					p.R30R		.											.	WDR45-131	0			c.C90T						.						77	54	62					X																	48935536		2203	4300	6503	SO:0001819	synonymous_variant	11152	exon4			GTAGATGCGCACA	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.90C>T	X.37:g.48935536G>A		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	91	19	NM_007075	0	0	0	0	0	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Silent	SNP	ENST00000376372.3	37	CCDS35250.1																																																																																			.		0.607	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		A	48935536	G	A	48935536	2	1	31	1	0	0	0	0	0	0	0	1	17346	1306	46	3		3	WDR45	23	48935536	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5919	48935536	106335024	2313	7865											
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49074374	49074374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgaagagctgcacccCgatgcaggcgaacataaatt	9	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49074374C>T	ENST00000376265.2	-	25	3113	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	CACNA1F_ENST00000376251.1_Missense_Mutation_p.G953R|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1007R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1018			G -> R (in CSNB2A). {ECO:0000269|PubMed:12111638}.		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)	AGCTGCACCCCGATGCAGGCG	0.552																																					p.G1018R		.											.	CACNA1F-176	0			c.G3052A	GRCh37	CM021523	CACNA1F	M		.						137	100	112					X																	49074374		2203	4300	6503	SO:0001583	missense	778	exon25			GCACCCCGATGCA	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.3052G>A	X.37:g.49074374C>T	ENSP00000365441:p.Gly1018Arg	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	152	46	NM_005183	0	0	0	0	0	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.290142	0.80914	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97665	-4.48;-4.48;-4.48	5.68	4.82	0.62117	Ion transport (1);	0.047372	0.85682	D	0.000000	D	0.99239	0.9735	H	0.99855	4.85	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	P;D	0.97110	0.855;1.0	D	0.97994	1.0356	10	0.87932	D	0	.	12.4977	0.55937	0.0:0.9165:0.0:0.0835	.	1007;1018	F5CIQ9;O60840	.;CAC1F_HUMAN	R	953;1007;1018	ENSP00000365427:G953R;ENSP00000321618:G1007R;ENSP00000365441:G1018R	ENSP00000321618:G1007R	G	-	1	0	CACNA1F	48961318	1.000000	0.71417	0.629000	0.29254	0.861000	0.49209	7.484000	0.81180	1.170000	0.42753	0.597000	0.82753	GGG	.		0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49074374	C	T	49074374	3	4	31	1	0	0	0	0	1	0	0	0	2550	652	23	1	2977	1	CACNA1F	23	49074374	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	138838	49074374	106196186	2314	7866											
PPP1R3F	89801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49142338	49142338	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaccccgcagaagaaggtGatgtccccagaagcagtcca	11	13	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49142338G>T	ENST00000055335.6	+	4	1202	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.D67Y|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.D50Y|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.D50Y|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.D50Y	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	396					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AGAAGAAGGTGATGTCCCCAG	0.607																																					p.D396Y		.											.	PPP1R3F-229	0			c.G1186T						.						50	47	48					X																	49142338		2203	4300	6503	SO:0001583	missense	89801	exon4			GAAGGTGATGTCC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1186G>T	X.37:g.49142338G>T	ENSP00000055335:p.Asp396Tyr	Somatic	260	0		WXS	Illumina GAIIx	Phase_I	329	49	NM_033215	0	0	0	0	0	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005676	0.54254	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.61158	0.57;0.57;0.13;0.57;0.57	5.27	5.27	0.74061	.	0.129998	0.35262	N	0.003333	T	0.62563	0.2438	L	0.27053	0.805	0.34501	D	0.70606	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.65573	0.912;0.912;0.936	T	0.74147	-0.3759	10	0.87932	D	0	-10.1505	13.2717	0.60164	0.0:0.0:1.0:0.0	.	67;81;396	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	Y	50;67;396;50;50	ENSP00000420687:D50Y;ENSP00000415548:D67Y;ENSP00000055335:D396Y;ENSP00000417535:D50Y;ENSP00000365359:D50Y	ENSP00000055335:D396Y	D	+	1	0	PPP1R3F	49029282	0.999000	0.42202	0.987000	0.45799	0.890000	0.51754	3.184000	0.50926	2.195000	0.70347	0.529000	0.55759	GAT	.		0.607	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49142338	G	T	49142338	3	4	31	1	0	0	0	0	1	0	0	0	12417	1290	45	3	1200	3	PPP1R3F	23	49142338	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	67964	49142338	106128222	2315	7867											
CLCN5	1184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49851057	49851057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcagcattcactctaCgctccatcaatccatttggg	9	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49851057C>T	ENST00000307367.2	+	8	1168	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	CLCN5_ENST00000376091.3_Missense_Mutation_p.R363C|CLCN5_ENST00000376108.3_Missense_Mutation_p.R293C|CLCN5_ENST00000376088.3_Missense_Mutation_p.R363C			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)					ATTCACTCTACGCTCCATCAA	0.473																																					p.R363C		.											.	CLCN5-132	0			c.C1087T						.						105	83	90					X																	49851057		2203	4300	6503	SO:0001583	missense	1184	exon11			ACTCTACGCTCCA	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.877C>T	X.37:g.49851057C>T	ENSP00000304257:p.Arg293Cys	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	117	30	NM_001127898	0	0	0	0	0	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764037	0.69878	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.83	5.83	0.93111	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.99013	1.0815	10	0.87932	D	0	-9.8095	12.8267	0.57725	0.1632:0.8368:0.0:0.0	.	293;363	P51795;P51795-2	CLCN5_HUMAN;.	C	363;195;363;293;293	ENSP00000365256:R363C;ENSP00000365259:R363C;ENSP00000365276:R293C;ENSP00000304257:R293C	ENSP00000304257:R293C	R	+	1	0	CLCN5	49737797	1.000000	0.71417	0.847000	0.33407	0.955000	0.61496	4.792000	0.62467	2.472000	0.83506	0.529000	0.55759	CGC	.		0.473	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			T	49851057	C	T	49851057	3	4	31	1	0	0	0	0	1	0	0	0	3473	536	19	1	1121	1	CLCN5	23	49851057	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	708719	49851057	105419503	2316	7868											
AKAP4	8852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49957836	49957836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatgagtttccttgcttttGgttccagatggttaggccct	11	9	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49957836G>T	ENST00000376056.2	-	5	1651	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453																																					p.Q510K		.											.	AKAP4-540	0			c.C1528A						.						218	190	199					X																	49957836		2203	4300	6503	SO:0001583	missense	8852	exon5			GCTTTTGGTTCCA	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1501C>A	X.37:g.49957836G>T	ENSP00000365224:p.Gln501Lys	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	111	23	NM_003886	0	0	0	0	0		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	5.158	0.214750	0.09810	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.05717	3.4;3.4;3.4	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.127211	0.34750	N	0.003704	T	0.11196	0.0273	N	0.17379	0.485	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.36212	-0.9757	9	.	.	.	-12.2698	12.4754	0.55809	0.0:0.0:1.0:0.0	.	510	Q5JQC9	AKAP4_HUMAN	K	501;510;501	ENSP00000365224:Q501K;ENSP00000351327:Q510K;ENSP00000365232:Q501K	.	Q	-	1	0	AKAP4	49844576	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	2.952000	0.49097	1.995000	0.58328	0.464000	0.42555	CAA	.		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		T	49957836	G	T	49957836	3	4	31	1	0	0	0	0	1	0	0	0	453	1357	47	3	1044	3	AKAP4	23	49957836	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	106779	49957836	105312724	2317	7869											
CCNB3	85417	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	50054083	50054083	+	Frame_Shift_Del	DEL	G	G	-													cattgttggtcccccaagttGgaaccagcccaaatgtgtct							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50054083delG	ENST00000376042.1	+	6	3212	c.2914delG	c.(2914-2916)ggafs	p.G972fs	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Frame_Shift_Del_p.G972fs|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	972					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)					CCCCCAAGTTGGAACCAGCCC	0.493																																					p.G972fs		.											.	CCNB3-482	0			c.2914delG						.						93	83	86					X																	50054083		2203	4300	6503	SO:0001589	frameshift_variant	85417	exon5			CAAGTTGGAACCA	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.2914delG	X.37:g.50054083delG	ENSP00000365210:p.Gly972fs	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	186	50	NM_033031	0	0	0	0	0	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Del	DEL	ENST00000376042.1	37	CCDS14331.1																																																																																			.		0.493	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			-	50054083	G	-	50054083	7	5	31	1	0	1	0	1	0	0	0	0	2921	1349	47	0	2928	0	CCNB3	23	50054083	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	96247	50054083	105216477	2318	7870											
DGKK	139189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	50121627	50121627	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacgggacattgccatctgCacagaaccaaagattgccac	8	12	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50121627C>A	ENST00000376025.2	-	0	2984							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTGCCATCTGCACAGAACCAA	0.537																																					.		.											.	DGKK-227	0			.						.						113	101	105					X																	50121627		2079	4179	6258			139189	.			CATCTGCACAGAA	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121627C>A		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	166	71	.	0	0	0	0	0	B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																				.		0.537	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50121627	C	A	50121627	1	1	31	0	1	0	0	0	0	0	0	0	4486	697	25	3		3	DGKK	23	50121627	RNA	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	67544	50121627	105148933	2319	7871											
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	50377365	50377365	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccgggtccctccacttcGcctaccacccatccggctgc	8	22	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50377365G>T	ENST00000289292.7	-	4	1991	c.1708C>A	c.(1708-1710)Cga>Aga	p.R570R	SHROOM4_ENST00000376020.2_Silent_p.R570R|SHROOM4_ENST00000460112.3_Silent_p.R454R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	570					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)					CCTCCACTTCGCCTACCACCC	0.582																																					p.R570R		.											.	SHROOM4-131	0			c.C1708A						.						34	31	32					X																	50377365		2203	4300	6503	SO:0001819	synonymous_variant	57477	exon4			CACTTCGCCTACC	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.1708C>A	X.37:g.50377365G>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	65	16	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50377365	G	T	50377365	2	4	31	1	0	0	0	0	0	0	0	1	14341	1095	38	2		2	SHROOM4	23	50377365	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	255738	50377365	104893195	2320	7872											
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	50377405	50377405	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactccttgggctcgctgtcCccttcttcacctgcctctgt	7	18	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50377405C>G	ENST00000289292.7	-	4	1951	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	SHROOM4_ENST00000376020.2_Silent_p.G556G|SHROOM4_ENST00000460112.3_Silent_p.G440G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	556					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)					GCTCGCTGTCCCCTTCTTCAC	0.597																																					p.G556G		.											.	SHROOM4-131	0			c.G1668C						.						34	28	30					X																	50377405		2203	4300	6503	SO:0001819	synonymous_variant	57477	exon4			GCTGTCCCCTTCT	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.1668G>C	X.37:g.50377405C>G		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	97	21	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.597	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		G	50377405	C	G	50377405	2	3	31	1	0	0	0	0	0	0	0	1	14341	610	22	3		3	SHROOM4	23	50377405	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	40	50377405	104893155	2321	7873											
NUDT10	170685	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	51075872	51075872	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccgaggggttcaagaagCgggcggcgtgcctgtgcttc	16	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51075872C>A	ENST00000376006.3	+	2	275	c.55C>A	c.(55-57)Cgg>Agg	p.R19R	NUDT10_ENST00000356450.2_Silent_p.R19R	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					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)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GTTCAAGAAGCGGGCGGCGTG	0.677																																					p.R19R	NSCLC(90;1817 2035 37909 38249)	.											.	NUDT10-90	0			c.C55A						.						42	32	36					X																	51075872		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			AAGAAGCGGGCGG	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.55C>A	X.37:g.51075872C>A		Somatic	541	1		WXS	Illumina GAIIx	Phase_I	759	121	NM_153183	0	0	0	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.677	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		A	51075872	C	A	51075872	2	1	31	1	0	0	0	0	0	0	0	1	10765	759	27	2		2	NUDT10	23	51075872	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	698467	51075872	104194688	2322	7874											
GSPT2	23708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	51487049	51487049	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggatgggacggggggcaccTgtggaaccttcccgagagga	18	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51487049T>A	ENST00000340438.4	+	1	569	c.327T>A	c.(325-327)ccT>ccA	p.P109P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	109					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGGGGGCACCTGTGGAACCTT	0.587																																					p.P109P		.											.	GSPT2-228	0			c.T327A						.						16	15	16					X																	51487049		2202	4299	6501	SO:0001819	synonymous_variant	23708	exon1			GGCACCTGTGGAA	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.327T>A	X.37:g.51487049T>A		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	67	12	NM_018094	0	0	0	0	0	Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	CCDS14336.1																																																																																			.		0.587	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			A	51487049	T	A	51487049	2	1	31	1	0	0	0	0	0	0	0	1	6854	1567	55	5		5	GSPT2	23	51487049	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	411177	51487049	103783511	2323	7875											
MAGED1	9500	hgsc.bcm.edu;bcgsc.ca	37	chrX	51639728	51639728	+	Frame_Shift_Del	DEL	G	G	-													acgtcagagccctccagctaGgcagaccccaccagcctggc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51639728delG	ENST00000375722.1	+	4	1229	c.977delG	c.(976-978)aggfs	p.R326fs	MAGED1_ENST00000375695.2_Frame_Shift_Del_p.R382fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.R326fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.R326fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	326	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)					CCTCCAGCTAGGCAGACCCCA	0.602										Multiple Myeloma(10;0.10)																											p.R382fs		.											.	MAGED1-133	0			c.1145delG						.						61	58	59					X																	51639728		2203	4300	6503	SO:0001589	frameshift_variant	9500	exon5			CAGCTAGGCAGAC	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.977delG	X.37:g.51639728delG	ENSP00000364874:p.Arg326fs	Somatic	349	2		WXS	Illumina GAIIx	Phase_I	283	106	NM_001005333	0	0	0	0	0	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	CCDS14337.1																																																																																			.		0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		-	51639728	G	-	51639728	7	5	31	1	0	1	0	1	0	0	0	0	9221	1000	35	0	1159	0	MAGED1	23	51639728	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	152679	51639728	103630832	2324	7876											
GPR173	54328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53105990	53105990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccttactacttcctgctgGacctgtgcctggccgatggc	10	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53105990G>T	ENST00000332582.4	+	2	678	c.187G>T	c.(187-189)Gac>Tac	p.D63Y		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	63					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CTTCCTGCTGGACCTGTGCCT	0.602																																					p.D63Y		.											.	GPR173-130	0			c.G187T						.						116	82	94					X																	53105990		2203	4300	6503	SO:0001583	missense	54328	exon2			CTGCTGGACCTGT	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.187G>T	X.37:g.53105990G>T	ENSP00000331600:p.Asp63Tyr	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	121	26	NM_018969	0	0	0	0	0	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564491	0.65651	.	.	ENSG00000184194	ENST00000332582	T	0.36340	1.26	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61898	-0.6968	10	0.87932	D	0	-11.4746	13.3442	0.60561	0.0:0.0:1.0:0.0	.	63	Q9NS66	GP173_HUMAN	Y	63	ENSP00000331600:D63Y	ENSP00000331600:D63Y	D	+	1	0	GPR173	53122715	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.006000	0.58801	0.529000	0.55759	GAC	.		0.602	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		T	53105990	G	T	53105990	3	4	31	1	0	0	0	0	1	0	0	0	6697	1174	41	3	189	3	GPR173	23	53105990	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1466262	53105990	102164570	2325	7877											
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53278002	53278002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaggatgaagtgagccactCccaccggtgtgtctgacagg	13	12	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53278002C>A	ENST00000375368.5	-	5	2530	c.2330G>T	c.(2329-2331)gGa>gTa	p.G777V	IQSEC2_ENST00000396435.3_Missense_Mutation_p.G787V|IQSEC2_ENST00000375365.2_Missense_Mutation_p.G582V			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	777	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTGAGCCACTCCCACCGGTGT	0.557																																					p.G787V		.											.	IQSEC2-178	0			c.G2360T						.						72	51	58					X																	53278002		2203	4300	6503	SO:0001583	missense	23096	exon6			GCCACTCCCACCG	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2330G>T	X.37:g.53278002C>A	ENSP00000364517:p.Gly777Val	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	94	42	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	C	19.53	3.845828	0.71603	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54479	0.57;0.57;0.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.39514	1.22	0.80722	D	1	P;D	0.89917	0.951;1.0	P;D	0.97110	0.754;1.0	T	0.68511	-0.5389	10	0.87932	D	0	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	787;582	Q5JU85-2;Q5JU85-3	.;.	V	787;777;582	ENSP00000379712:G787V;ENSP00000364517:G777V;ENSP00000364514:G582V	ENSP00000364514:G582V	G	-	2	0	IQSEC2	53294727	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.818000	0.86416	2.513000	0.84729	0.600000	0.82982	GGA	.		0.557	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		A	53278002	C	A	53278002	3	1	31	1	0	0	0	0	1	0	0	0	7845	855	30	3	2146	3	IQSEC2	23	53278002	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	172012	53278002	101992558	2326	7878											
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53279726	53279726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacttccccaacctccgacCcccagccacaccactgggcc	6	23	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53279726C>A	ENST00000375368.5	-	4	2202	c.2002G>T	c.(2002-2004)Ggt>Tgt	p.G668C	IQSEC2_ENST00000396435.3_Missense_Mutation_p.G678C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.G473C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	668					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AACCTCCGACCCCCAGCCACA	0.642																																					p.G678C		.											.	IQSEC2-178	0			c.G2032T						.						37	33	35					X																	53279726		2203	4297	6500	SO:0001583	missense	23096	exon5			TCCGACCCCCAGC	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2002G>T	X.37:g.53279726C>A	ENSP00000364517:p.Gly668Cys	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	68	18	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	c	13.46	2.243288	0.39697	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.12879	2.65;2.64;2.69	4.71	1.91	0.25777	.	0.557272	0.19360	N	0.116176	T	0.08268	0.0206	N	0.24115	0.695	0.36039	D	0.839967	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.003	T	0.13282	-1.0515	10	0.59425	D	0.04	.	4.8539	0.13550	0.1507:0.5759:0.0:0.2734	.	678;473	Q5JU85-2;Q5JU85-3	.;.	C	678;668;473	ENSP00000379712:G678C;ENSP00000364517:G668C;ENSP00000364514:G473C	ENSP00000364514:G473C	G	-	1	0	IQSEC2	53296451	0.903000	0.30736	1.000000	0.80357	0.933000	0.57130	0.581000	0.23819	0.440000	0.26502	-0.195000	0.12781	GGT	.		0.642	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		A	53279726	C	A	53279726	3	1	31	1	0	0	0	0	1	0	0	0	7845	623	22	3	2478	3	IQSEC2	23	53279726	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1724	53279726	101990834	2327	7879											
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53279966	53279966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacggagctgtcactaggagGctcaatggtaagcaggggaa	15	8	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53279966G>C	ENST00000375368.5	-	4	1962	c.1762C>G	c.(1762-1764)Cct>Gct	p.P588A	IQSEC2_ENST00000396435.3_Missense_Mutation_p.P598A|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P393A			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	588	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCACTAGGAGGCTCAATGGTA	0.652																																					p.P598A		.											.	IQSEC2-178	0			c.C1792G						.						18	16	17					X																	53279966		2195	4295	6490	SO:0001583	missense	23096	exon5			TAGGAGGCTCAAT	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1762C>G	X.37:g.53279966G>C	ENSP00000364517:p.Pro588Ala	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	115	27	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	g	22.0	4.226168	0.79576	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.50548	0.75;0.74;1.33	5.37	5.37	0.77165	.	.	.	.	.	T	0.62962	0.2471	L	0.55213	1.73	0.58432	D	0.999994	D;D	0.71674	0.998;0.982	D;P	0.66084	0.941;0.831	T	0.61618	-0.7026	9	0.40728	T	0.16	.	16.8728	0.86044	0.0:0.0:1.0:0.0	.	598;393	Q5JU85-2;Q5JU85-3	.;.	A	598;588;393	ENSP00000379712:P598A;ENSP00000364517:P588A;ENSP00000364514:P393A	ENSP00000364514:P393A	P	-	1	0	IQSEC2	53296691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.778000	0.99011	2.246000	0.74042	0.597000	0.82753	CCT	.		0.652	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		C	53279966	G	C	53279966	3	2	31	1	0	0	0	0	1	0	0	0	7845	1203	42	3	2718	3	IQSEC2	23	53279966	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	240	53279966	101990594	2328	7880											
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53561133	53561133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcttgatcgaaagaaCgcaatgctctccagaaccac	9	12	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53561133C>T	ENST00000342160.3	-	82	13314	c.12857G>A	c.(12856-12858)cGt>cAt	p.R4286H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4286H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4286	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						ATCGAAAGAACGCAATGCTCT	0.542																																					p.R4286H		.											.	HUWE1-280	0			c.G12857A						.						99	65	77					X																	53561133		2203	4300	6503	SO:0001583	missense	10075	exon83			AAAGAACGCAATG	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.12857G>A	X.37:g.53561133C>T	ENSP00000340648:p.Arg4286His	Somatic	434	0		WXS	Illumina GAIIx	Phase_I	414	97	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595489	0.46318	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.41758	0.99;0.99	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.96	T	0.61969	-0.6953	10	0.87932	D	0	.	17.6554	0.88176	0.0:1.0:0.0:0.0	.	4286;4270	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	4286	ENSP00000340648:R4286H;ENSP00000262854:R4286H	ENSP00000262854:R4286H	R	-	2	0	HUWE1	53577858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.421000	0.66447	2.528000	0.85240	0.529000	0.55759	CGT	.		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53561133	C	T	53561133	3	4	31	1	0	0	0	0	1	0	0	0	7488	536	19	1	275	1	HUWE1	23	53561133	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	281167	53561133	101709427	2329	7881											
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53602737	53602737	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cataaccccaggtttaggatCagatttatctgctaggaaaa	8	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53602737C>A	ENST00000342160.3	-	44	6353	c.5896G>T	c.(5896-5898)Gat>Tat	p.D1966Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.D1966Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1966					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						GGTTTAGGATCAGATTTATCT	0.438																																					p.D1966Y		.											.	HUWE1-280	0			c.G5896T						.						91	74	80					X																	53602737		2203	4300	6503	SO:0001583	missense	10075	exon45			TAGGATCAGATTT	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.5896G>T	X.37:g.53602737C>A	ENSP00000340648:p.Asp1966Tyr	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	146	26	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.260133|3.260133	0.59321|0.59321	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.38240|.	1.15;1.15|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.288500|.	0.32041|.	N|.	0.006665|.	T|.	0.46328|.	0.1387|.	N|N	0.08118|0.08118	0|0	0.40597|0.40597	D|D	0.981549|0.981549	P;P|.	0.47191|.	0.651;0.891|.	B;P|.	0.44359|.	0.261;0.447|.	T|.	0.46133|.	-0.9213|.	10|.	0.66056|.	D|.	0.02|.	.|.	17.8502|17.8502	0.88744|0.88744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1966;1966|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|L	1966|999	ENSP00000340648:D1966Y;ENSP00000262854:D1966Y|.	ENSP00000262854:D1966Y|.	D|X	-|-	1|2	0|2	HUWE1|HUWE1	53619462|53619462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	5.246000|5.246000	0.65411|0.65411	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	GAT|TGA	.		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53602737	C	A	53602737	3	1	31	1	0	0	0	0	1	0	0	0	7488	826	29	3	7388	3	HUWE1	23	53602737	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	41604	53602737	101667823	2330	7882											
HUWE1	10075	broad.mit.edu	37	chrX	53634661	53634661	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atagattccacaaatttcatCtaggtaataaaaatttttta	3	5	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53634661C>A	ENST00000342160.3	-	24	2777		c.e24-1		HUWE1_ENST00000262854.6_Splice_Site|HUWE1_ENST00000218328.8_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						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						CAAATTTCATCTAGGTAATAA	0.388																																					.		.											.	HUWE1-280	0			c.2320-1G>T						.						58	50	53					X																	53634661		2203	4300	6503	SO:0001630	splice_region_variant	10075	exon26			TTTCATCTAGGTA	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.2320-1G>T	X.37:g.53634661C>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427559	0.83667	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8004	0.85612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53651386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.136000	0.77285	2.492000	0.84095	0.600000	0.82982	.	.		0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	A	53634661	C	A	53634661	5	1	31	1	0	0	0	0	0	0	1	0	7488	927	32	3	11045	3	HUWE1	23	53634661	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	31924	53634661	101635899	2331	7883											
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54228531	54228531	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactgcttcctttgtccagtCatccaccagcttgtgtaagt	7	12	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54228531C>A	ENST00000375159.2	-	22	4965	c.4966G>T	c.(4966-4968)Gac>Tac	p.D1656Y	WNK3_ENST00000354646.2_Missense_Mutation_p.D1656Y|WNK3_ENST00000375169.3_Missense_Mutation_p.D1599Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1656					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTGTCCAGTCATCCACCAGC	0.398																																					p.D1656Y		.											.	WNK3-441	0			c.G4966T						.						170	127	141					X																	54228531		2203	4300	6503	SO:0001583	missense	65267	exon23			TCCAGTCATCCAC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4966G>T	X.37:g.54228531C>A	ENSP00000364301:p.Asp1656Tyr	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	105	26	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093747	0.56075	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.34859	1.34;1.34;1.34	4.88	4.01	0.46588	.	0.100537	0.43579	D	0.000556	T	0.56001	0.1956	M	0.65975	2.015	0.36259	D	0.854436	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66006	-0.6030	10	0.87932	D	0	-5.7675	11.3391	0.49523	0.0:0.9065:0.0:0.0935	.	1599;1656	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1599;1656;1656	ENSP00000364312:D1599Y;ENSP00000346667:D1656Y;ENSP00000364301:D1656Y	ENSP00000346667:D1656Y	D	-	1	0	WNK3	54245256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.151000	0.42263	0.853000	0.35312	0.529000	0.55759	GAC	.		0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54228531	C	A	54228531	3	1	31	1	0	0	0	0	1	0	0	0	17428	826	29	3	444	3	WNK3	23	54228531	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	593870	54228531	101042029	2332	7884											
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	54263789	54263789	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttattttctttacaggtttCctgaagagcttgtaacttct	6	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54263789C>G	ENST00000375159.2	-	19	4209	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	WNK3_ENST00000354646.2_Missense_Mutation_p.E1404Q|WNK3_ENST00000375169.3_Missense_Mutation_p.E1357Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1404					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTACAGGTTTCCTGAAGAGCT	0.383																																					p.E1404Q		.											.	WNK3-441	0			c.G4210C						.						87	78	81					X																	54263789		2203	4300	6503	SO:0001583	missense	65267	exon20			AGGTTTCCTGAAG	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4210G>C	X.37:g.54263789C>G	ENSP00000364301:p.Glu1404Gln	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	63	6	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447482	0.26074	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72505	-0.66;-0.59;-0.59	5.03	0.785	0.18584	.	0.335587	0.25636	N	0.029304	T	0.51210	0.1661	L	0.29908	0.895	0.18873	N	0.999985	P;B	0.35575	0.51;0.376	B;B	0.35413	0.202;0.1	T	0.40421	-0.9564	10	0.15952	T	0.53	-5.1932	7.9551	0.30038	0.0:0.5671:0.0:0.4329	.	1357;1404	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1357;1404;1404	ENSP00000364312:E1357Q;ENSP00000346667:E1404Q;ENSP00000364301:E1404Q	ENSP00000346667:E1404Q	E	-	1	0	WNK3	54280514	0.029000	0.19370	0.049000	0.19019	0.966000	0.64601	-0.013000	0.12678	-0.231000	0.09825	0.600000	0.82982	GAA	.		0.383	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		G	54263789	C	G	54263789	3	3	31	1	0	0	0	0	1	0	0	0	17428	864	30	3	1212	3	WNK3	23	54263789	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35258	54263789	101006771	2333	7885											
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	54263899	54263899	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taataaaggcttcttcactaGaatggtttgtctcactgaac	7	8	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54263899G>T	ENST00000375159.2	-	19	4099	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	WNK3_ENST00000354646.2_Missense_Mutation_p.S1367Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S1320Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1367					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACTAGAATGGTTTGT	0.353																																					p.S1367Y		.											.	WNK3-441	0			c.C4100A						.						80	73	75					X																	54263899		2203	4300	6503	SO:0001583	missense	65267	exon20			TCACTAGAATGGT	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4100C>A	X.37:g.54263899G>T	ENSP00000364301:p.Ser1367Tyr	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	15	5	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346274	0.41599	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71103	-0.54;-0.54;-0.54	5.27	4.41	0.53225	.	0.114316	0.39475	N	0.001353	T	0.73544	0.3600	L	0.29908	0.895	0.23795	N	0.996825	D;D	0.89917	1.0;0.964	D;P	0.87578	0.998;0.694	T	0.64253	-0.6451	10	0.72032	D	0.01	-6.7781	9.0274	0.36239	0.1055:0.0:0.8945:0.0	.	1320;1367	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1320;1367;1367	ENSP00000364312:S1320Y;ENSP00000346667:S1367Y;ENSP00000364301:S1367Y	ENSP00000346667:S1367Y	S	-	2	0	WNK3	54280624	0.998000	0.40836	0.797000	0.32132	0.608000	0.37181	2.321000	0.43805	1.112000	0.41740	0.600000	0.82982	TCT	.		0.353	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54263899	G	T	54263899	3	4	31	1	0	0	0	0	1	0	0	0	17428	942	33	3	1322	3	WNK3	23	54263899	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	110	54263899	101006661	2334	7886											
GNL3L	54552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	54586952	54586952	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgtatttctccatttgcaGataaaatcgccagcaagctg	7	11	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54586952G>C	ENST00000336470.4	+	16	1805		c.e16-1		GNL3L_ENST00000360845.2_Splice_Site	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like						GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCCATTTGCAGATAAAATCGC	0.507																																					.		.											.	GNL3L-131	0			c.1667-1G>C						.						222	183	196					X																	54586952		2203	4300	6503	SO:0001630	splice_region_variant	54552	exon16			TTTGCAGATAAAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1667-1G>C	X.37:g.54586952G>C		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	106	20	NM_019067	0	0	0	0	0		Splice_Site	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413334	0.62511	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0835	0.53684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNL3L	54603677	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.937000	0.56575	2.139000	0.66308	0.506000	0.49869	.	.		0.507	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	Intron	C	54586952	G	C	54586952	5	2	31	1	0	0	0	0	0	0	1	0	6564	956	33	3	1724	3	GNL3L	23	54586952	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	323053	54586952	100683608	2335	7887											
ITIH5L	347365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54800536	54800536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccatcttggtaccaaacAtggagctgcttacgtcaata	8	10	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54800536A>C	ENST00000218436.6	-	6	910	c.881T>G	c.(880-882)aTg>aGg	p.M294R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	294	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTACCAAACATGGAGCTGCT	0.453																																					p.M294R		.											.	.	0			c.T881G						.						84	65	71					X																	54800536		2203	4300	6503	SO:0001583	missense	347365	exon6			CCAAACATGGAGC	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.881T>G	X.37:g.54800536A>C	ENSP00000218436:p.Met294Arg	Somatic	446	0		WXS	Illumina GAIIx	Phase_I	442	81	NM_198510	0	0	0	0	0	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	a	14.23	2.472942	0.43942	.	.	ENSG00000102313	ENST00000218436	T	0.25912	1.77	4.15	2.92	0.33932	von Willebrand factor, type A (3);	0.058480	0.64402	U	0.000003	T	0.58750	0.2144	H	0.95043	3.615	0.42236	D	0.991918	D	0.89917	1.0	D	0.97110	1.0	T	0.64249	-0.6452	10	0.87932	D	0	.	8.7246	0.34460	0.8272:0.0:0.0:0.1728	.	294	Q6UXX5	ITH5L_HUMAN	R	294	ENSP00000218436:M294R	ENSP00000218436:M294R	M	-	2	0	ITIH5L	54817261	1.000000	0.71417	0.412000	0.26496	0.459000	0.32528	4.797000	0.62503	0.517000	0.28361	0.345000	0.21793	ATG	.		0.453	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		C	54800536	A	C	54800536	3	2	31	1	0	0	0	0	1	0	0	0	7935	217	8	5	3092	5	ITIH5L	23	54800536	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	213584	54800536	100470024	2336	7888											
ITIH5L	347365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54817377	54817377	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatgctcagcctcttcaccAattggccaggcctcaggctc	8	16	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54817377A>T	ENST00000218436.6	-	4	538	c.509T>A	c.(508-510)tTg>tAg	p.L170*	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	170					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTCTTCACCAATTGGCCAGG	0.587																																					p.L170X		.											.	.	0			c.T509A						.						95	72	80					X																	54817377		2203	4300	6503	SO:0001587	stop_gained	347365	exon4			TTCACCAATTGGC	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.509T>A	X.37:g.54817377A>T	ENSP00000218436:p.Leu170*	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	223	45	NM_198510	0	0	0	0	0	A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237597	0.58886	.	.	ENSG00000102313	ENST00000218436	.	.	.	4.92	4.92	0.64577	.	0.461420	0.19382	U	0.115628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6732	0.56878	1.0:0.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000218436:L170X	L	-	2	0	ITIH5L	54834102	1.000000	0.71417	0.009000	0.14445	0.014000	0.08584	2.241000	0.43097	1.630000	0.50440	0.446000	0.29264	TTG	.		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54817377	A	T	54817377	4	4	31	1	0	0	0	0	0	1	0	0	7935	131	5	5	3472	5	ITIH5L	23	54817377	Nonsense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	16841	54817377	100453183	2337	7889											
KLF8	11279	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	56259773	56259773	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcctcagctagtgacatggtCggtaagtgactctgggacta	12	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:56259773C>A	ENST00000468660.1	+	1	294	c.6C>A	c.(4-6)gtC>gtA	p.V2V	KLF8_ENST00000374928.3_Splice_Site_p.V2V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGACATGGTCGGTAAGTGAC	0.577																																					p.V2V		.											.	KLF8-131	0			c.C6A						.						182	122	142					X																	56259773		2203	4300	6503	SO:0001630	splice_region_variant	11279	exon2			CATGGTCGGTAAG	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.7+1C>A	X.37:g.56259773C>A		Somatic	140	1		WXS	Illumina GAIIx	Phase_I	104	21	NM_001159296	0	0	0	0	0	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1																																																																																			.		0.577	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	Silent	A	56259773	C	A	56259773	5	1	31	1	0	0	0	0	0	0	1	0	8379	898	31	2	8	2	KLF8	23	56259773	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1442396	56259773	99010787	2338	7890											
SPIN3	169981	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	57020873	57020873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggtacatatataatacagGatctttctcataggtaatgt	7	6	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57020873G>T	ENST00000374919.3	-	2	830	c.508C>A	c.(508-510)Cct>Act	p.P170T		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	170					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATAATACAGGATCTTTCTCA	0.433																																					p.P170T		.											.	SPIN3-131	0			c.C508A						.						94	94	94					X																	57020873		2160	4248	6408	SO:0001583	missense	169981	exon2			ATACAGGATCTTT	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.508C>A	X.37:g.57020873G>T	ENSP00000364054:p.Pro170Thr	Somatic	190	1		WXS	Illumina GAIIx	Phase_I	173	31	NM_001010862	0	0	0	0	0	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239415	0.58995	.	.	ENSG00000204271	ENST00000374919	T	0.47869	0.83	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000013	T	0.64864	0.2637	M	0.77313	2.365	0.39189	D	0.962934	D	0.76494	0.999	D	0.71414	0.973	T	0.70876	-0.4753	10	0.62326	D	0.03	-4.5042	10.7756	0.46348	0.0:0.0:1.0:0.0	.	170	Q5JUX0	SPIN3_HUMAN	T	170	ENSP00000364054:P170T	ENSP00000364054:P170T	P	-	1	0	SPIN3	57037598	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.968000	0.70413	1.659000	0.50751	0.600000	0.82982	CCT	.		0.433	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		T	57020873	G	T	57020873	3	4	31	1	0	0	0	0	1	0	0	0	15102	1174	41	3	272	3	SPIN3	23	57020873	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	761100	57020873	98249687	2339	7891											
SPIN2B	474343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	57146348	57146348	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaaacttgatgaaatAcacagagggtttggcttcca	8	8	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57146348A>T	ENST00000333933.3	-	2	1025	c.715T>A	c.(715-717)Tat>Aat	p.Y239N	SPIN2B_ENST00000275988.5_Missense_Mutation_p.Y239N|SPIN2B_ENST00000374910.3_Missense_Mutation_p.Y138N|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Y239N|SPIN2B_ENST00000460948.1_Intron|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	239					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTGATGAAATACACAGAGGGT	0.393																																					p.Y239N		.											.	SPIN2B-90	0			c.T715A						.						137	114	122					X																	57146348		2203	4298	6501	SO:0001583	missense	474343	exon2			TGAAATACACAGA	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.715T>A	X.37:g.57146348A>T	ENSP00000335008:p.Tyr239Asn	Somatic	973	0		WXS	Illumina GAIIx	Phase_I	824	160	NM_001006683	0	0	0	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.470957	0.43942	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	2.61	2.61	0.31194	.	0.000000	0.64402	D	0.000005	T	0.72558	0.3475	M	0.68317	2.08	0.44508	D	0.997452	D	0.76494	0.999	D	0.74023	0.982	T	0.73849	-0.3853	10	0.87932	D	0	-3.1325	8.3198	0.32121	1.0:0.0:0.0:0.0	.	239	Q9BPZ2	SPI2B_HUMAN	N	239;239;138;239;239	ENSP00000275988:Y239N;ENSP00000364047:Y239N;ENSP00000364045:Y138N;ENSP00000335008:Y239N;ENSP00000404314:Y239N	ENSP00000275988:Y239N	Y	-	1	0	SPIN2B	57163073	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.588000	0.82629	1.302000	0.44855	0.143000	0.16000	TAT	.		0.393	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681		T	57146348	A	T	57146348	3	4	31	1	0	0	0	0	1	0	0	0	15101	391	14	5	65	5	SPIN2B	23	57146348	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	125475	57146348	98124212	2340	7892											
SPIN2B	474343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	57146372	57146372	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggtttggcttccacttGgtgaatgaccatgccgatcc	12	10	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57146372G>T	ENST00000333933.3	-	2	1001	c.691C>A	c.(691-693)Caa>Aaa	p.Q231K	SPIN2B_ENST00000275988.5_Missense_Mutation_p.Q231K|SPIN2B_ENST00000374910.3_Missense_Mutation_p.Q130K|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Q231K|SPIN2B_ENST00000460948.1_Intron|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	231					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						GCTTCCACTTGGTGAATGACC	0.418																																					p.Q231K		.											.	SPIN2B-90	0			c.C691A						.						160	132	142					X																	57146372		2203	4298	6501	SO:0001583	missense	474343	exon2			CCACTTGGTGAAT	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.691C>A	X.37:g.57146372G>T	ENSP00000335008:p.Gln231Lys	Somatic	956	0		WXS	Illumina GAIIx	Phase_I	771	141	NM_001006683	0	0	0	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.993837	0.35131	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	2.37	2.37	0.29283	.	0.000000	0.64402	D	0.000001	T	0.66356	0.2781	M	0.62209	1.925	0.43693	D	0.996146	P	0.39157	0.662	P	0.57152	0.814	T	0.62492	-0.6843	10	0.27785	T	0.31	-11.7564	10.1693	0.42900	0.0:0.0:1.0:0.0	.	231	Q9BPZ2	SPI2B_HUMAN	K	231;231;130;231;231	ENSP00000275988:Q231K;ENSP00000364047:Q231K;ENSP00000364045:Q130K;ENSP00000335008:Q231K;ENSP00000404314:Q231K	ENSP00000275988:Q231K	Q	-	1	0	SPIN2B	57163097	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.015000	0.88690	1.500000	0.48636	0.171000	0.16805	CAA	.		0.418	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681		T	57146372	G	T	57146372	3	4	31	1	0	0	0	0	1	0	0	0	15101	1357	47	3	89	3	SPIN2B	23	57146372	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	24	57146372	98124188	2341	7893											
SPIN2A	54466	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	57162366	57162366	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgaccatgccgatccttttgGagccatcttctttggtatat	8	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57162366G>C	ENST00000374908.1	-	1	1064	c.665C>G	c.(664-666)tCc>tGc	p.S222C	SPIN2A_ENST00000374906.3_Missense_Mutation_p.S222C			Q99865	SPI2A_HUMAN	spindlin family, member 2A	222					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GATCCTTTTGGAGCCATCTTC	0.443																																					p.S222C		.											.	SPIN2A-130	0			c.C665G						.						93	79	83					X																	57162366		2203	4294	6497	SO:0001583	missense	54466	exon2			CTTTTGGAGCCAT	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.665C>G	X.37:g.57162366G>C	ENSP00000364043:p.Ser222Cys	Somatic	824	1		WXS	Illumina GAIIx	Phase_I	734	148	NM_019003	0	0	0	0	0	O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.410244	0.42715	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.50813	0.73;0.73	2.89	2.89	0.33648	.	0.279267	0.29964	N	0.010752	T	0.51584	0.1683	M	0.76574	2.34	0.31205	N	0.699352	D	0.60160	0.987	P	0.47134	0.539	T	0.64266	-0.6448	10	0.72032	D	0.01	-10.9808	10.9959	0.47575	0.0:0.0:1.0:0.0	.	222	Q99865	SPI2A_HUMAN	C	222	ENSP00000364043:S222C;ENSP00000364041:S222C	ENSP00000364041:S222C	S	-	2	0	SPIN2A	57179091	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.568000	0.60857	1.716000	0.51395	0.422000	0.28245	TCC	.		0.443	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058915.1	NM_019003		C	57162366	G	C	57162366	3	2	31	1	0	0	0	0	1	0	0	0	15100	1174	41	3	115	3	SPIN2A	23	57162366	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	15994	57162366	98108194	2342	7894											
HEPH	9843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	65412128	65412128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtactgggaagaatttgaGagagccaggcaggtaagagg	17	4	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:65412128G>T	ENST00000343002.2	+	6	1884	c.1220G>T	c.(1219-1221)aGa>aTa	p.R407I	HEPH_ENST00000519389.1_Missense_Mutation_p.R461I|HEPH_ENST00000336279.5_Missense_Mutation_p.R140I|HEPH_ENST00000419594.1_Missense_Mutation_p.R410I|HEPH_ENST00000441993.2_Missense_Mutation_p.R410I|HEPH_ENST00000374727.3_Missense_Mutation_p.R410I			Q9BQS7	HEPH_HUMAN	hephaestin	407	Plastocyanin-like 3.				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						AAGAATTTGAGAGAGCCAGGC	0.458																																					p.R461I		.											.	HEPH-135	0			c.G1382T						.						85	78	80					X																	65412128		2203	4300	6503	SO:0001583	missense	9843	exon7			ATTTGAGAGAGCC	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.1220G>T	X.37:g.65412128G>T	ENSP00000343939:p.Arg407Ile	Somatic	345	1		WXS	Illumina GAIIx	Phase_I	209	110	NM_138737	0	0	0	0	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	12.17	1.858336	0.32791	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	5.29	-0.928	0.10448	Cupredoxin (2);	0.514876	0.22015	N	0.065806	D	0.93213	0.7838	N	0.20483	0.58	0.34475	D	0.703218	B;B;B	0.15141	0.002;0.012;0.002	B;B;B	0.14023	0.007;0.01;0.004	D	0.84720	0.0739	10	0.34782	T	0.22	.	0.243	0.00195	0.2603:0.2809:0.1709:0.2879	.	461;410;407	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	I	461;410;140;410;410;407;407	ENSP00000430620:R461I;ENSP00000363859:R410I;ENSP00000337418:R140I;ENSP00000411687:R410I;ENSP00000413211:R410I;ENSP00000343939:R407I;ENSP00000398078:R407I	ENSP00000337418:R140I	R	+	2	0	HEPH	65328853	0.195000	0.23338	0.992000	0.48379	0.981000	0.71138	0.135000	0.15952	-0.181000	0.10619	0.523000	0.50628	AGA	.		0.458	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65412128	G	T	65412128	3	4	31	1	0	0	0	0	1	0	0	0	7081	942	33	3	1408	3	HEPH	23	65412128	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	8249762	65412128	89858432	2343	7895											
FAM155B	27112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	68748874	68748874	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctcagaatacttcagCgtgacccagcaggaatgcca	10	12	2	2	rs200565192		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:68748874C>G	ENST00000252338.4	+	2	942	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	300						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AATACTTCAGCGTGACCCAGC	0.597																																					p.S300R		.											.	FAM155B-131	0			c.C900G						.						60	44	50					X																	68748874		2203	4300	6503	SO:0001583	missense	27112	exon2			CTTCAGCGTGACC	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.900C>G	X.37:g.68748874C>G	ENSP00000252338:p.Ser300Arg	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	135	80	NM_015686	0	0	0	0	0	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955876	0.53293	.	.	ENSG00000130054	ENST00000252338	T	0.79749	-1.3	5.07	1.49	0.22878	.	0.238126	0.36815	N	0.002388	T	0.66197	0.2765	N	0.22421	0.69	0.30454	N	0.774977	P	0.44627	0.839	B	0.43052	0.406	T	0.65417	-0.6173	10	0.51188	T	0.08	-7.4135	5.7834	0.18320	0.0:0.6019:0.1535:0.2446	.	300	O75949-2	.	R	300	ENSP00000252338:S300R	ENSP00000252338:S300R	S	+	3	2	FAM155B	68665599	0.854000	0.29725	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	0.639000	0.30564	0.523000	0.50628	AGC	C|0.999;T|0.001		0.597	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		G	68748874	C	G	68748874	3	3	31	1	0	0	0	0	1	0	0	0	5485	767	27	2	906	2	FAM155B	23	68748874	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	3336746	68748874	86521686	2344	7896											
OTUD6A	139562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	69282886	69282886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtctgtggagatgctgcGctgccgcaccgccagctaca	13	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:69282886G>T	ENST00000338352.2	+	1	546	c.512G>T	c.(511-513)cGc>cTc	p.R171L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	171	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.R171P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGATGCTGCGCTGCCGCACC	0.617																																					p.R171L		.											.	OTUD6A-541	1	Substitution - Missense(1)	urinary_tract(1)	c.G512T						.						53	38	43					X																	69282886		2203	4300	6503	SO:0001583	missense	139562	exon1			TGCTGCGCTGCCG	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.512G>T	X.37:g.69282886G>T	ENSP00000339389:p.Arg171Leu	Somatic	318	0		WXS	Illumina GAIIx	Phase_I	269	154	NM_207320	0	0	0	0	0	B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564179	0.65651	.	.	ENSG00000189401	ENST00000338352	T	0.76186	-1.0	4.27	3.41	0.39046	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	M	0.93763	3.455	0.22693	N	0.998846	D	0.89917	1.0	D	0.97110	1.0	T	0.79543	-0.1760	10	0.87932	D	0	.	9.5568	0.39343	0.1069:0.0:0.8931:0.0	.	171	Q7L8S5	OTU6A_HUMAN	L	171	ENSP00000339389:R171L	ENSP00000339389:R171L	R	+	2	0	OTUD6A	69199611	0.905000	0.30787	0.001000	0.08648	0.000000	0.00434	5.651000	0.67951	1.157000	0.42530	-0.208000	0.12717	CGC	.		0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		T	69282886	G	T	69282886	3	4	31	1	0	0	0	0	1	0	0	0	11355	1087	38	2	514	2	OTUD6A	23	69282886	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	534012	69282886	85987674	2345	7897											
GDPD2	54857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	69646560	69646560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcctggcctggcctgtGgctgataccttctaccgtat	10	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:69646560G>A	ENST00000374382.3	+	7	776	c.525G>A	c.(523-525)gtG>gtA	p.V175V	GDPD2_ENST00000453994.2_Silent_p.V175V|GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000536730.1_Silent_p.V96V|GDPD2_ENST00000538649.1_Silent_p.V96V	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	175					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCTGGCCTGTGGCTGATACCT	0.602																																					p.V175V		.											.	GDPD2-132	0			c.G525A						.						53	44	47					X																	69646560		2203	4300	6503	SO:0001819	synonymous_variant	54857	exon7			GCCTGTGGCTGAT	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.525G>A	X.37:g.69646560G>A		Somatic	268	0		WXS	Illumina GAIIx	Phase_I	217	137	NM_017711	0	0	0	0	0	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	CCDS14402.1																																																																																			.		0.602	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		A	69646560	G	A	69646560	2	1	31	1	0	0	0	0	0	0	0	1	6350	1335	47	3		3	GDPD2	23	69646560	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	363674	69646560	85624000	2346	7898											
TAF1	6872	hgsc.bcm.edu;bcgsc.ca	37	chrX	70683717	70683717	+	Frame_Shift_Del	DEL	G	G	-													atcccaagtcgaacacccaaGacacaagcttcagcagcatc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70683717delG	ENST00000373790.4	+	38	5491	c.5440delG	c.(5440-5442)gacfs	p.D1814fs	TAF1_ENST00000461764.1_Intron|TAF1_ENST00000423759.1_Frame_Shift_Del_p.D1837fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.D1848fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.D1835fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1814	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAACACCCAAGACACAAGCTT	0.527																																					p.D1835fs		.											.	TAF1-900	0			c.5503delG						.						96	67	77					X																	70683717		2203	4300	6503	SO:0001589	frameshift_variant	6872	exon38			ACCCAAGACACAA		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5440delG	X.37:g.70683717delG	ENSP00000362895:p.Asp1814fs	Somatic	480	2		WXS	Illumina GAIIx	Phase_I	337	188	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	CCDS35325.1																																																																																			.		0.527	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		-	70683717	G	-	70683717	7	5	31	1	0	1	0	1	0	0	0	0	15560	942	33	0	5653	0	TAF1	23	70683717	Frame_Shift_Del	DEL	G	TCGA-OR-A5KB-01A-11D-A30A-10	1037157	70683717	84586843	2347	7899											
OGT	8473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	70776864	70776864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactctaaaggagatgcaggAtgttcagggagccttgcagt	13	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70776864A>T	ENST00000373719.3	+	10	1446	c.1229A>T	c.(1228-1230)gAt>gTt	p.D410V	OGT_ENST00000373701.3_Missense_Mutation_p.D400V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	410					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAGATGCAGGATGTTCAGGGA	0.418																																					p.D410V		.											.	OGT-113	0			c.A1229T						.						98	78	85					X																	70776864		2203	4300	6503	SO:0001583	missense	8473	exon10			TGCAGGATGTTCA	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1229A>T	X.37:g.70776864A>T	ENSP00000362824:p.Asp410Val	Somatic	320	0		WXS	Illumina GAIIx	Phase_I	207	91	NM_181672	0	0	0	0	0	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191495	0.78902	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.21361	2.01;2.01	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.91635	0.999;0.998;0.948	T	0.38908	-0.9639	10	0.46703	T	0.11	.	14.3039	0.66373	1.0:0.0:0.0:0.0	.	284;400;410	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	V	410;400	ENSP00000362824:D410V;ENSP00000362805:D400V	ENSP00000362805:D400V	D	+	2	0	OGT	70693589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	1.953000	0.56701	0.481000	0.45027	GAT	.		0.418	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70776864	A	T	70776864	3	4	31	1	0	0	0	0	1	0	0	0	10886	333	12	5	1267	5	OGT	23	70776864	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	93147	70776864	84493696	2348	7900											
CXCR3	2833	broad.mit.edu	37	chrX	70837423	70837423	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcctcctataactgTccccgccagtcttccagggc	8	17	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70837423T>C	ENST00000373693.3	-	2	80				CXCR3_ENST00000373691.4_Missense_Mutation_p.T14A	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTATAACTGTCCCCGCCAGT	0.532																																					p.T14A		.											.	CXCR3-660	0			c.A40G						.						41	35	37					X																	70837423		692	1591	2283	SO:0001627	intron_variant	2833	exon2			TAACTGTCCCCGC	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.13-114A>G	X.37:g.70837423T>C		Somatic	183	43		WXS	Illumina GAIIx	Phase_I	139	37	NM_001142797	0	0	0	0	0	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021817	0.54576	.	.	ENSG00000186810	ENST00000373691	T	0.70282	-0.47	4.95	-2.16	0.07080	.	1.713550	0.04872	N	0.446113	T	0.53270	0.1786	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37126	-0.9719	9	0.87932	D	0	.	0.3302	0.00317	0.259:0.2588:0.1454:0.3368	.	14	P49682-2	.	A	14	ENSP00000362795:T14A	ENSP00000362795:T14A	T	-	1	0	CXCR3	70754148	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.709000	0.05030	-0.624000	0.05611	0.481000	0.45027	ACA	.		0.532	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			C	70837423	T	C	70837423	1	2	31	0	1	0	0	0	0	0	0	0	4101	1667	58	4		4	CXCR3	23	70837423	Intron	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	60559	70837423	84433137	2349	7901											
NHSL2	340527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	71354404	71354404	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagactaccacccagggtGtgagggcccccgaggcctcc	13	15	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:71354404G>A	ENST00000373677.1	+	0	906				NHSL2_ENST00000510661.1_Missense_Mutation_p.V17M|NHSL2_ENST00000535692.1_5'UTR|NHSL2_ENST00000540800.1_Missense_Mutation_p.V204M|RGAG4_ENST00000545866.1_5'Flank|RGAG4_ENST00000609883.1_5'Flank			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CACCCAGGGTGTGAGGGCCCC	0.582																																					p.V204M		.											.	NHSL2-108	0			c.G610A						.						70	59	63					X																	71354404		692	1591	2283	SO:0001623	5_prime_UTR_variant	340527	exon4			CAGGGTGTGAGGG			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-357G>A	X.37:g.71354404G>A		Somatic	343	0		WXS	Illumina GAIIx	Phase_I	250	140	NM_001013627	0	0	0	0	0	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	g	19.14	3.769726	0.69992	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.51071	1.43;0.72	5.17	5.17	0.71159	.	.	.	.	.	T	0.51635	0.1686	N	0.17474	0.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.50898	-0.8773	8	.	.	.	.	15.1136	0.72380	0.0:0.0:1.0:0.0	.	204;17	F5H593;D6RBM4	.;.	M	204;17	ENSP00000444617:V204M;ENSP00000424079:V17M	.	V	+	1	0	NHSL2	71271129	0.996000	0.38824	1.000000	0.80357	0.786000	0.44442	2.525000	0.45598	2.156000	0.67533	0.464000	0.42555	GTG	.		0.582	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		A	71354404	G	A	71354404	1	1	31	0	1	0	0	0	0	0	0	0	10451	1377	48	3		3	NHSL2	23	71354404	5'UTR	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	516981	71354404	83916156	2350	7902											
ZCCHC5	203430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	77912640	77912640	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactgatgtgtgggcagttGattgcagcctgcataggttg	14	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:77912640G>T	ENST00000321110.1	-	2	1573	c.1278C>A	c.(1276-1278)atC>atA	p.I426I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	426							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						GTGGGCAGTTGATTGCAGCCT	0.517																																					p.I426I		.											.	ZCCHC5-131	0			c.C1278A						.						154	120	131					X																	77912640		2203	4300	6503	SO:0001819	synonymous_variant	203430	exon2			GCAGTTGATTGCA	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.1278C>A	X.37:g.77912640G>T		Somatic	200	0		WXS	Illumina GAIIx	Phase_I	157	96	NM_152694	0	0	0	0	0	B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	CCDS14440.1																																																																																			.		0.517	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		T	77912640	G	T	77912640	2	4	31	1	0	0	0	0	0	0	0	1	17639	1280	45	3		3	ZCCHC5	23	77912640	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6558236	77912640	77357920	2351	7903											
TBX22	50945	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	79278676	79278676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattcaaatggagcttcaagGatctgaactgtggaaaagat	10	5	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:79278676G>T	ENST00000373294.5	+	2	321	c.293G>T	c.(292-294)gGa>gTa	p.G98V	TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.G98V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	98					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGCTTCAAGGATCTGAACTG	0.507																																					p.G98V		.											.	TBX22-628	0			c.G293T						.						85	75	78					X																	79278676		2203	4300	6503	SO:0001583	missense	50945	exon2			TTCAAGGATCTGA	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.293G>T	X.37:g.79278676G>T	ENSP00000362390:p.Gly98Val	Somatic	286	2		WXS	Illumina GAIIx	Phase_I	190	102	NM_016954	0	0	0	0	0	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271612	0.59649	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.90197	-2.63;-2.63	4.92	4.92	0.64577	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94785	0.7957	10	0.37606	T	0.19	.	15.7562	0.78030	0.0:0.0:1.0:0.0	.	98	Q9Y458	TBX22_HUMAN	V	98	ENSP00000362393:G98V;ENSP00000362390:G98V	ENSP00000362390:G98V	G	+	2	0	TBX22	79165332	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	8.544000	0.90654	2.020000	0.59435	0.600000	0.82982	GGA	.		0.507	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		T	79278676	G	T	79278676	3	4	31	1	0	0	0	0	1	0	0	0	15705	1174	41	3	299	3	TBX22	23	79278676	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1366036	79278676	75991884	2352	7904											
BRWD3	254065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	79971694	79971694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctttttcttcttttcaaCtgtataaagactgatttcta	5	7	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:79971694C>A	ENST00000373275.4	-	20	2503	c.2287G>T	c.(2287-2289)Gtt>Ttt	p.V763F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	763					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						TTCTTTTCAACTGTATAAAGA	0.328																																					p.V763F		.											.	BRWD3-134	0			c.G2287T						.						189	161	171					X																	79971694		2201	4299	6500	SO:0001583	missense	254065	exon20			TTTCAACTGTATA		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.2287G>T	X.37:g.79971694C>A	ENSP00000362372:p.Val763Phe	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	59	20	NM_153252	0	0	0	0	0	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018649	0.19355	.	.	ENSG00000165288	ENST00000373275	T	0.30714	1.52	5.17	3.22	0.36961	.	0.365138	0.31566	N	0.007423	T	0.12902	0.0313	N	0.11560	0.145	0.24250	N	0.995328	B	0.09022	0.002	B	0.08055	0.003	T	0.18398	-1.0338	9	.	.	.	-10.3297	4.7073	0.12856	0.1455:0.5212:0.2493:0.084	.	763	Q6RI45	BRWD3_HUMAN	F	763	ENSP00000362372:V763F	.	V	-	1	0	BRWD3	79858350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.168000	0.31859	1.142000	0.42291	-0.337000	0.08149	GTT	.		0.328	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	79971694	C	A	79971694	3	1	31	1	0	0	0	0	1	0	0	0	1530	565	20	3	3209	3	BRWD3	23	79971694	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	693018	79971694	75298866	2353	7905											
SATL1	340562	ucsc.edu;bcgsc.ca	37	chrX	84362970	84362970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggactagttcgctcagGctttgtggccacatgcctgg	12	12	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:84362970G>T	ENST00000395409.3	-	1	1004	c.444C>A	c.(442-444)agC>agA	p.S148R	SATL1_ENST00000332921.5_Missense_Mutation_p.S148R|SATL1_ENST00000509231.1_Missense_Mutation_p.S335R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	148	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						GTTCGCTCAGGCTTTGTGGCC	0.537																																					p.S335R		.											.	SATL1-175	0			c.C1005A						.						227	138	169					X																	84362970		2203	4300	6503	SO:0001583	missense	340562	exon1			GCTCAGGCTTTGT	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.444C>A	X.37:g.84362970G>T	ENSP00000378804:p.Ser148Arg	Somatic	350	3		WXS	Illumina GAIIx	Phase_I	227	124	NM_001012980	0	0	0	0	0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	10.21	1.287508	0.23478	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.43294	0.95;0.95;0.95	1.63	1.63	0.23807	.	.	.	.	.	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	P;P	0.46020	0.48;0.871	B;B	0.31101	0.124;0.062	T	0.13899	-1.0492	9	0.59425	D	0.04	.	4.7927	0.13257	0.0:0.0:0.6368:0.3632	.	148;335	Q86VE3;E9PB72	SATL1_HUMAN;.	R	148;148;335	ENSP00000378804:S148R;ENSP00000329115:S148R;ENSP00000425421:S335R	ENSP00000329115:S148R	S	-	3	2	SATL1	84249626	0.002000	0.14202	0.003000	0.11579	0.019000	0.09904	0.082000	0.14847	1.100000	0.41517	0.436000	0.28706	AGC	.		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		T	84362970	G	T	84362970	3	4	31	1	0	0	0	0	1	0	0	0	13900	1194	42	3	913	3	SATL1	23	84362970	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4391276	84362970	70907590	2354	7906											
DACH2	117154	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	85404068	85404068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgctgcaaactcatcacCaggaaagacttcgaaacttt	6	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:85404068C>T	ENST00000373125.4	+	1	444	c.444C>T	c.(442-444)acC>acT	p.T148T	DACH2_ENST00000373131.1_Silent_p.T148T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	148	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AACTCATCACCAGGAAAGACT	0.562																																					p.T148T		.											.	DACH2-136	0			c.C444T						.						47	47	47					X																	85404068		2203	4300	6503	SO:0001819	synonymous_variant	117154	exon1			CATCACCAGGAAA	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.444C>T	X.37:g.85404068C>T		Somatic	116	1		WXS	Illumina GAIIx	Phase_I	81	40	NM_001139514	0	0	0	0	0	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	CCDS14455.1																																																																																			.		0.562	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	85404068	C	T	85404068	2	4	31	1	0	0	0	0	0	0	0	1	4230	581	21	3		3	DACH2	23	85404068	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1041098	85404068	69866492	2355	7907											
KLHL4	56062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	86890618	86890618	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaatcaatggaatacTttgacccacacactaacaag	5	12	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:86890618T>A	ENST00000373119.4	+	9	1913	c.1768T>A	c.(1768-1770)Ttt>Att	p.F590I	KLHL4_ENST00000373114.4_Missense_Mutation_p.F590I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	590						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATGGAATACTTTGACCCACA	0.398																																					p.F590I		.											.	KLHL4-133	0			c.T1768A						.						129	108	115					X																	86890618		2203	4300	6503	SO:0001583	missense	56062	exon9			GAATACTTTGACC	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1768T>A	X.37:g.86890618T>A	ENSP00000362211:p.Phe590Ile	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	99	26	NM_019117	0	0	0	0	0	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509375	0.85282	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78707	-1.2;-1.2	4.59	4.59	0.56863	Galactose oxidase, beta-propeller (1);	0.109054	0.64402	D	0.000007	D	0.86602	0.5972	M	0.93978	3.48	0.49483	D	0.99979	P;P	0.39862	0.578;0.692	P;P	0.47603	0.551;0.543	D	0.89371	0.3675	10	0.87932	D	0	.	12.4181	0.55504	0.0:0.0:0.0:1.0	.	590;590	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	590	ENSP00000362211:F590I;ENSP00000362206:F590I	ENSP00000362206:F590I	F	+	1	0	KLHL4	86777274	1.000000	0.71417	0.863000	0.33907	0.993000	0.82548	7.313000	0.78978	1.792000	0.52537	0.417000	0.27973	TTT	.		0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86890618	T	A	86890618	3	1	31	1	0	0	0	0	1	0	0	0	8418	1609	56	5	1802	5	KLHL4	23	86890618	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1486550	86890618	68379942	2356	7908											
PCDH11X	27328	hgsc.bcm.edu;bcgsc.ca	37	chrX	91132646	91132646	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctccagttttcacccagtcTttcgtaactgtttctattcc	5	13	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91132646T>A	ENST00000373094.1	+	2	2252	c.1407T>A	c.(1405-1407)tcT>tcA	p.S469S	PCDH11X_ENST00000373088.1_Silent_p.S469S|PCDH11X_ENST00000373097.1_Silent_p.S469S|PCDH11X_ENST00000361724.1_Silent_p.S469S|PCDH11X_ENST00000298274.8_Silent_p.S469S|PCDH11X_ENST00000361655.2_Silent_p.S469S|PCDH11X_ENST00000504220.2_Silent_p.S469S|PCDH11X_ENST00000395337.2_Silent_p.S469S|PCDH11X_ENST00000406881.1_Silent_p.S469S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	469	Cadherin 5. {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						TCACCCAGTCTTTCGTAACTG	0.428																																					p.S469S	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.T1407A						.						62	56	58					X																	91132646		2203	4297	6500	SO:0001819	synonymous_variant	27328	exon2			CCAGTCTTTCGTA	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.1407T>A	X.37:g.91132646T>A		Somatic	448	2		WXS	Illumina GAIIx	Phase_I	283	165	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			.		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91132646	T	A	91132646	2	1	31	1	0	0	0	0	0	0	0	1	11547	1596	56	5		5	PCDH11X	23	91132646	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	4242028	91132646	64137914	2357	7909											
PCDH11X	27328	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	91133492	91133492	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtttacacagagtgttggtCaaagctaatgacttaggaca	11	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91133492C>G	ENST00000373094.1	+	2	3098	c.2253C>G	c.(2251-2253)gtC>gtG	p.V751V	PCDH11X_ENST00000373088.1_Silent_p.V751V|PCDH11X_ENST00000373097.1_Silent_p.V751V|PCDH11X_ENST00000361724.1_Silent_p.V751V|PCDH11X_ENST00000298274.8_Silent_p.V751V|PCDH11X_ENST00000361655.2_Silent_p.V751V|PCDH11X_ENST00000504220.2_Silent_p.V751V|PCDH11X_ENST00000395337.2_Silent_p.V751V|PCDH11X_ENST00000406881.1_Silent_p.V751V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	751	Cadherin 7. {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						GAGTGTTGGTCAAAGCTAATG	0.403																																					p.V751V	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C2253G						.						77	67	70					X																	91133492		2203	4297	6500	SO:0001819	synonymous_variant	27328	exon2			GTTGGTCAAAGCT	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.2253C>G	X.37:g.91133492C>G		Somatic	782	0		WXS	Illumina GAIIx	Phase_I	519	292	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			.		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		G	91133492	C	G	91133492	2	3	31	1	0	0	0	0	0	0	0	1	11547	813	29	3		3	PCDH11X	23	91133492	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	846	91133492	64137068	2358	7910											
PCDH11X	27328	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	91133563	91133563	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caatctgttcgtgaatgagtCggtgaccaatgctacactga	10	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91133563C>A	ENST00000373094.1	+	2	3169	c.2324C>A	c.(2323-2325)tCg>tAg	p.S775*	PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.S775*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	775	Cadherin 7. {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						GTGAATGAGTCGGTGACCAAT	0.438																																					p.S775X	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C2324A						.						229	187	201					X																	91133563		2203	4300	6503	SO:0001587	stop_gained	27328	exon2			ATGAGTCGGTGAC	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.2324C>A	X.37:g.91133563C>A	ENSP00000362186:p.Ser775*	Somatic	785	2		WXS	Illumina GAIIx	Phase_I	526	312	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	36	5.703882	0.96812	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.76	4.76	0.60689	.	0.126644	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	15.8606	0.79017	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000298274:S775X	S	+	2	0	PCDH11X	91020219	1.000000	0.71417	0.921000	0.36526	0.773000	0.43773	7.537000	0.82033	1.934000	0.56057	0.538000	0.68166	TCG	.		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133563	C	A	91133563	4	1	31	1	0	0	0	0	0	1	0	0	11547	893	31	2	2330	2	PCDH11X	23	91133563	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	71	91133563	64136997	2359	7911											
PCDH11X	27328	ucsc.edu	37	chrX	91873458	91873458	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tactcagcaccacagcccacGagtgacacagaccattgctc	7	16	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91873458G>C	ENST00000373094.1	+	7	4408	c.3563G>C	c.(3562-3564)cGa>cCa	p.R1188P	PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1151P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1178P|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1151P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1170P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1180P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1188					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)	p.R1188L(1)		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						CACAGCCCACGAGTGACACAG	0.592																																					p.R1188P	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	1	Substitution - Missense(1)	lung(1)	c.G3563C						.						245	185	206					X																	91873458		2203	4300	6503	SO:0001583	missense	27328	exon7			GCCCACGAGTGAC	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.3563G>C	X.37:g.91873458G>C	ENSP00000362186:p.Arg1188Pro	Somatic	795	2		WXS	Illumina GAIIx	Phase_I	751	121	NM_032968	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.275396	0.00257	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.46819	0.86;0.88;0.86;0.86;0.89;0.86	3.39	2.53	0.30540	.	.	.	.	.	T	0.17662	0.0424	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.19353	-1.0308	9	0.37606	T	0.19	.	6.0318	0.19684	0.0:0.6912:0.1906:0.1182	.	1151;1170;1180;1178;1188	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	P	1188;1178;1151;1170;1180;1188;1151	ENSP00000362186:R1188P;ENSP00000362189:R1178P;ENSP00000362180:R1151P;ENSP00000355105:R1170P;ENSP00000384758:R1180P;ENSP00000298274:R1151P	ENSP00000298274:R1151P	R	+	2	0	PCDH11X	91760114	0.000000	0.05858	0.001000	0.08648	0.347000	0.29111	0.174000	0.16743	0.303000	0.22785	-0.344000	0.07964	CGA	.		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		C	91873458	G	C	91873458	3	2	31	1	0	0	0	0	1	0	0	0	11547	1058	37	2	3711	2	PCDH11X	23	91873458	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	739895	91873458	63397102	2360	7912											
PCDH11X	27328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	91873488	91873488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccattgctctctgccacaGccctccagtgacacagacca	7	17	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91873488G>T	ENST00000373094.1	+	7	4438	c.3593G>T	c.(3592-3594)aGc>aTc	p.S1198I	PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1161I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1188I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1161I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1180I|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1190I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1198					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						CTCTGCCACAGCCCTCCAGTG	0.587																																					p.S1198I	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.G3593T						.						247	184	206					X																	91873488		2203	4300	6503	SO:0001583	missense	27328	exon7			GCCACAGCCCTCC	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.3593G>T	X.37:g.91873488G>T	ENSP00000362186:p.Ser1198Ile	Somatic	855	1		WXS	Illumina GAIIx	Phase_I	812	136	NM_032968	0	0	0	0	0	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	16.98	3.271768	0.59649	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54479	0.59;0.6;0.57;0.58;0.6;0.57	3.93	3.93	0.45458	.	.	.	.	.	T	0.53029	0.1771	L	0.36672	1.1	0.28077	N	0.932338	D;D;D;D;P	0.54047	0.964;0.964;0.964;0.964;0.94	P;P;P;P;P	0.51135	0.66;0.66;0.66;0.66;0.459	T	0.50491	-0.8822	9	0.72032	D	0.01	.	12.72	0.57137	0.0:0.0:1.0:0.0	.	1161;1180;1190;1188;1198	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1198;1188;1161;1180;1190;1198;1161	ENSP00000362186:S1198I;ENSP00000362189:S1188I;ENSP00000362180:S1161I;ENSP00000355105:S1180I;ENSP00000384758:S1190I;ENSP00000298274:S1161I	ENSP00000298274:S1161I	S	+	2	0	PCDH11X	91760144	0.258000	0.24033	0.805000	0.32314	0.896000	0.52359	1.103000	0.31062	1.943000	0.56356	0.466000	0.42574	AGC	.		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91873488	G	T	91873488	3	4	31	1	0	0	0	0	1	0	0	0	11547	971	34	3	3741	3	PCDH11X	23	91873488	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	30	91873488	63397072	2361	7913											
DIAPH2	1730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	96724708	96724708	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtggtaaatcatccctGtgcaacaagggctaatccaa	9	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:96724708G>T	ENST00000324765.8	+	26	3588				DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Missense_Mutation_p.C1086F|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373049.4_Missense_Mutation_p.C1086F			O60879	DIAP2_HUMAN	diaphanous-related formin 2						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						AATCATCCCTGTGCAACAAGG	0.338																																					p.C1086F		.											.	DIAPH2-133	0			c.G3257T						.						85	72	76					X																	96724708		2203	4300	6503	SO:0001627	intron_variant	1730	exon27			ATCCCTGTGCAAC	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.3241+39964G>T	X.37:g.96724708G>T		Somatic	371	0		WXS	Illumina GAIIx	Phase_I	286	44	NM_007309	0	0	0	0	0	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405378	0.42715	.	.	ENSG00000147202	ENST00000355827;ENST00000373049;ENST00000537885	T;T	0.80480	-1.38;-1.38	4.95	0.939	0.19506	.	0.529435	0.16565	N	0.208878	T	0.67562	0.2906	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.55679	-0.8103	10	0.44086	T	0.13	.	7.3297	0.26575	0.4597:0.0:0.5403:0.0	.	1086	O60879-2	.	F	1086;1086;1093	ENSP00000348082:C1086F;ENSP00000362140:C1086F	ENSP00000348082:C1086F	C	+	2	0	DIAPH2	96611364	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	0.059000	0.14322	0.073000	0.16731	-0.191000	0.12829	TGT	.		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96724708	G	T	96724708	1	4	31	0	1	0	0	0	0	0	0	0	4533	1377	48	3		3	DIAPH2	23	96724708	Intron	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	4851220	96724708	58545852	2362	7914											
PCDH19	57526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	99661493	99661493	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgttgtctcgcttgcacttGattgccacgaagatcatagt	9	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99661493G>C	ENST00000373034.4	-	1	3778	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	PCDH19_ENST00000255531.7_Missense_Mutation_p.I701M|PCDH19_ENST00000420881.2_Missense_Mutation_p.I701M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTTGCACTTGATTGCCACGA	0.448																																					p.I701M		.											.	PCDH19-110	0			c.C2103G						.						76	66	69					X																	99661493		1941	4112	6053	SO:0001583	missense	57526	exon1			GCACTTGATTGCC	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2103C>G	X.37:g.99661493G>C	ENSP00000362125:p.Ile701Met	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	142	54	NM_001184880	0	0	0	0	0	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517518	0.27123	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53857	0.6;0.65;0.61	5.95	2.02	0.26589	.	0.055375	0.64402	D	0.000001	T	0.46619	0.1402	L	0.32530	0.975	0.35408	D	0.792199	P;P;P	0.41748	0.761;0.745;0.628	B;P;B	0.50490	0.216;0.642;0.439	T	0.53989	-0.8360	10	0.62326	D	0.03	.	4.5677	0.12195	0.2135:0.1753:0.5236:0.0876	.	701;701;701	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	701	ENSP00000400327:I701M;ENSP00000362125:I701M;ENSP00000255531:I701M	ENSP00000255531:I701M	I	-	3	3	PCDH19	99548149	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	1.590000	0.36654	0.272000	0.22027	-0.503000	0.04515	ATC	.		0.448	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		C	99661493	G	C	99661493	3	2	31	1	0	0	0	0	1	0	0	0	11553	1280	45	3	1367	3	PCDH19	23	99661493	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2936785	99661493	55609067	2363	7915											
TNMD	64102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	99854700	99854700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggtgggtggcccgcatgCtggggagggtctaataggag	19	7	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99854700C>A	ENST00000373031.4	+	7	1157	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	314					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GGCCCGCATGCTGGGGAGGGT	0.458																																					p.L314M		.											.	TNMD-130	0			c.C940A						.						61	43	49					X																	99854700		2203	4299	6502	SO:0001583	missense	64102	exon7			CGCATGCTGGGGA	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.940C>A	X.37:g.99854700C>A	ENSP00000362122:p.Leu314Met	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	84	15	NM_022144	0	0	0	0	0	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075520	0.55646	.	.	ENSG00000000005	ENST00000373031	T	0.51325	0.71	5.73	3.65	0.41850	.	0.000000	0.64402	D	0.000004	T	0.53433	0.1796	L	0.32530	0.975	0.50813	D	0.999893	D	0.71674	0.998	D	0.80764	0.994	T	0.53251	-0.8465	10	0.54805	T	0.06	-13.3911	9.1376	0.36883	0.0:0.6837:0.0:0.3163	.	314	Q9H2S6	TNMD_HUMAN	M	314	ENSP00000362122:L314M	ENSP00000362122:L314M	L	+	1	2	TNMD	99741356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.018000	0.30002	1.193000	0.43086	0.523000	0.50628	CTG	.		0.458	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		A	99854700	C	A	99854700	3	1	31	1	0	0	0	0	1	0	0	0	16369	796	28	3	966	3	TNMD	23	99854700	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	193207	99854700	55415860	2364	7916											
TSPAN6	7105	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	99890216	99890216	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacgatggcagcgaccagttCgaccaaaaaaacgagagtca	10	10	1	1	rs369119853		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99890216C>A	ENST00000373020.4	-	3	421	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	104					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						GCGACCAGTTCGACCAAAAAA	0.398																																					p.E104X		.											.	TSPAN6-131	0			c.G310T						.						83	60	68					X																	99890216		2199	4292	6491	SO:0001587	stop_gained	7105	exon3			CCAGTTCGACCAA	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.310G>T	X.37:g.99890216C>A	ENSP00000362111:p.Glu104*	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	175	37	NM_003270	0	0	0	0	0	Q54A42|Q6IAN9	Nonsense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728757	0.96856	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	.	.	.	4.93	4.06	0.47325	.	0.203398	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.423	0.61009	0.0:0.8453:0.1547:0.0	.	.	.	.	X	104;86	.	.	E	-	1	0	TSPAN6	99776872	1.000000	0.71417	0.829000	0.32907	0.896000	0.52359	7.243000	0.78219	1.080000	0.41073	-0.357000	0.07601	GAA	.		0.398	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			A	99890216	C	A	99890216	4	1	31	1	0	0	0	0	0	1	0	0	16699	893	31	2	447	2	TSPAN6	23	99890216	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35516	99890216	55380344	2365	7917											
CSTF2	1478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	100093269	100093269	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctacaactgactgcagaccaGattgccatgttgcctcctga	8	13	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100093269G>T	ENST00000372972.2	+	13	1669	c.1653G>T	c.(1651-1653)caG>caT	p.Q551H	CSTF2_ENST00000415585.2_Missense_Mutation_p.Q571H	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	551	Interaction with RPO2TC1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTGCAGACCAGATTGCCATGT	0.403																																					p.Q551H		.											.	CSTF2-131	0			c.G1653T						.						110	99	103					X																	100093269		2203	4300	6503	SO:0001583	missense	1478	exon13			AGACCAGATTGCC	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1653G>T	X.37:g.100093269G>T	ENSP00000362063:p.Gln551His	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	195	33	NM_001325	0	0	0	0	0	Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437392	0.62955	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.45668	0.93;0.89	5.83	2.68	0.31781	.	0.289548	0.40222	N	0.001150	T	0.68824	0.3043	M	0.92412	3.305	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.995;0.997	D;D;D	0.87578	0.998;0.989;0.996	T	0.73357	-0.4008	10	0.87932	D	0	-7.3546	10.3572	0.43972	0.2971:0.0:0.7029:0.0	.	571;534;551	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	H	571;551;527	ENSP00000387996:Q571H;ENSP00000362063:Q551H	ENSP00000362063:Q551H	Q	+	3	2	CSTF2	99979925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	0.618000	0.30179	0.600000	0.82982	CAG	.		0.403	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		T	100093269	G	T	100093269	3	4	31	1	0	0	0	0	1	0	0	0	3993	933	33	3	1703	3	CSTF2	23	100093269	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	203053	100093269	55177291	2366	7918											
ARL13A	392509	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100243238	100243238	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagcatctagaacaatgctCaatcgaagctaagcctctaa	6	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100243238C>A	ENST00000450049.2	+	7	823	c.710C>A	c.(709-711)tCa>tAa	p.S237*		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	237					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GAACAATGCTCAATCGAAGCT	0.438																																					p.S237X		.											.	ARL13A-131	0			c.C710A						.						79	66	70					X																	100243238		1932	4120	6052	SO:0001587	stop_gained	392509	exon7			AATGCTCAATCGA		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.710C>A	X.37:g.100243238C>A	ENSP00000398637:p.Ser237*	Somatic	454	3		WXS	Illumina GAIIx	Phase_I	490	132	NM_001162490	0	0	0	0	0	B2RTT6|B4DX50	Nonsense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434303	0.62955	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	.	.	.	3.66	2.78	0.32641	.	1.314950	0.04999	N	0.468659	.	.	.	.	.	.	0.41484	D	0.988182	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.582	0.27970	0.253:0.747:0.0:0.0	.	.	.	.	X	237;111	.	ENSP00000362044:S111X	S	+	2	0	ARL13A	100129894	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.468000	0.22051	0.904000	0.36572	0.513000	0.50165	TCA	.		0.438	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		A	100243238	C	A	100243238	4	1	31	1	0	0	0	0	0	1	0	0	928	838	29	3	732	3	ARL13A	23	100243238	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	149969	100243238	55027322	2367	7919											
DRP2	1821	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100509496	100509496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattatttcagcaaacaccCtcagcgaggttatctgcctg	8	12	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100509496C>A	ENST00000395209.3	+	18	2587	c.2060C>A	c.(2059-2061)cCt>cAt	p.P687H	DRP2_ENST00000541709.1_Missense_Mutation_p.P609H|DRP2_ENST00000402866.1_Missense_Mutation_p.P687H|DRP2_ENST00000538510.1_Missense_Mutation_p.P687H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	687					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGCAAACACCCTCAGCGAGGT	0.537																																					p.P687H		.											.	DRP2-132	0			c.C2060A						.						104	73	84					X																	100509496		2203	4300	6503	SO:0001583	missense	1821	exon18			AACACCCTCAGCG	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2060C>A	X.37:g.100509496C>A	ENSP00000378635:p.Pro687His	Somatic	568	2		WXS	Illumina GAIIx	Phase_I	491	109	NM_001939	0	0	0	0	0	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718089	0.89205	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96926	0.9677	10	0.87932	D	0	-10.1614	17.594	0.88005	0.0:1.0:0.0:0.0	.	687	Q13474	DRP2_HUMAN	H	687;687;609;687	ENSP00000385038:P687H;ENSP00000378635:P687H;ENSP00000444752:P609H;ENSP00000441051:P687H	ENSP00000378635:P687H	P	+	2	0	DRP2	100396152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.484000	0.81180	2.190000	0.69967	0.506000	0.49869	CCT	.		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		A	100509496	C	A	100509496	3	1	31	1	0	0	0	0	1	0	0	0	4778	681	24	3	2122	3	DRP2	23	100509496	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	266258	100509496	54761064	2368	7920											
BTK	695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100615077	100615077	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgacataaacatacttactCatacatttctatggagtctt	4	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100615077C>A	ENST00000308731.7	-	9	1001	c.838G>T	c.(838-840)Gag>Tag	p.E280*	BTK_ENST00000372880.1_Splice_Site_p.E280*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	280			Missing (in XLA; severe). {ECO:0000269|PubMed:7849721}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATACTTACTCATACATTTCT	0.338									Agammaglobulinemia, X-linked																												p.E280X		.											.	BTK-1395	0			c.G838T	GRCh37	CM056547	BTK	M		.						180	154	163					X																	100615077		2203	4300	6503	SO:0001630	splice_region_variant	695	exon9	Familial Cancer Database	Bruton Type Agammaglobulinemia	CTTACTCATACAT	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.839+1G>T	X.37:g.100615077C>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	69	11	NM_000061	0	0	0	0	0	B2RAW1|Q32ML5	Nonsense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	40	8.215197	0.98709	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	.	.	.	5.98	5.98	0.97165	.	0.099573	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000308176:E280X	E	-	1	0	BTK	100501733	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.546000	0.67243	2.532000	0.85374	0.594000	0.82650	GAG	.		0.338	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Nonsense_Mutation	A	100615077	C	A	100615077	5	1	31	1	0	0	0	0	0	0	1	0	1561	840	29	3	1185	3	BTK	23	100615077	Splice_Site	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	105581	100615077	54655483	2369	7921											
ARMCX3	51566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	100880257	100880257	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctagggccagggcaagggcCagggctacccgggcacgtcg	18	13	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100880257C>A	ENST00000341189.4	+	5	1154	c.288C>A	c.(286-288)gcC>gcA	p.A96A	ARMCX3_ENST00000471229.2_Silent_p.A96A|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Silent_p.A96A	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	96					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						gggcaagggccagggctaCCC	0.547																																					p.A96A		.											.	ARMCX3-131	0			c.C288A						.						59	57	58					X																	100880257		2202	4300	6502	SO:0001819	synonymous_variant	51566	exon5			AAGGGCCAGGGCT	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.288C>A	X.37:g.100880257C>A		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	93	23	NM_016607	0	0	0	0	0	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	ENST00000341189.4	37	CCDS14489.1																																																																																			.		0.547	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		A	100880257	C	A	100880257	2	1	31	1	0	0	0	0	0	0	0	1	962	581	21	3		3	ARMCX3	23	100880257	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	265180	100880257	54390303	2370	7922											
ARMCX2	9823	broad.mit.edu	37	chrX	100911671	100911671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagttcgtctacttcaaCtttgcttttcttgcccttgc	5	15	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100911671C>A	ENST00000328766.5	-	5	1357	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	ARMCX2_ENST00000330154.2_Missense_Mutation_p.V302F|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V302F|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	302						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTACTTCAACTTTGCTTTTC	0.592																																					p.V302F		.											.	ARMCX2-136	0			c.G904T						.						137	148	144					X																	100911671		2203	4300	6503	SO:0001583	missense	9823	exon5			CTTCAACTTTGCT	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.904G>T	X.37:g.100911671C>A	ENSP00000331662:p.Val302Phe	Somatic	87	2		WXS	Illumina GAIIx	Phase_I	92	14	NM_014782	0	0	0	0	0	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778205	0.31502	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.39787	1.06;1.06;1.06	4.32	3.45	0.39498	.	0.447161	0.16584	N	0.208061	T	0.22360	0.0539	N	0.19112	0.55	0.31890	N	0.617379	P	0.41041	0.736	B	0.32465	0.146	T	0.15378	-1.0439	10	0.23302	T	0.38	-6.1098	9.5709	0.39427	0.0:0.8882:0.0:0.1118	.	302	Q7L311	ARMX2_HUMAN	F	302	ENSP00000331662:V302F;ENSP00000328631:V302F;ENSP00000349281:V302F	ENSP00000331662:V302F	V	-	1	0	ARMCX2	100798327	0.144000	0.22641	0.986000	0.45419	0.876000	0.50452	0.711000	0.25764	0.906000	0.36621	0.422000	0.28245	GTT	.		0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		A	100911671	C	A	100911671	3	1	31	1	0	0	0	0	1	0	0	0	961	565	20	3	998	3	ARMCX2	23	100911671	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	31414	100911671	54358889	2371	7923											
NXF5	55998	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	101096062	101096062	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcaggattatatcaatgtCacggcccatcaagtcttgaa	7	9	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101096062C>A	ENST00000361708.2	-	8	765	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	NXF5_ENST00000473265.2_Missense_Mutation_p.D136Y|NXF5_ENST00000537026.1_Missense_Mutation_p.D136Y			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	136					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						ATATCAATGTCACGGCCCATC	0.522																																					p.D136Y		.											.	NXF5-204	0			c.G406T						.						56	53	54					X																	101096062		1661	3346	5007	SO:0001583	missense	55998	exon8			CAATGTCACGGCC	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.406G>T	X.37:g.101096062C>A	ENSP00000355286:p.Asp136Tyr	Somatic	502	1		WXS	Illumina GAIIx	Phase_I	433	147	NM_032946	0	0	0	0	0	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	12.99	2.102917	0.37145	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.60171	0.21;0.21;0.21	2.05	0.205	0.15204	.	0.533295	0.18200	U	0.148552	T	0.55657	0.1934	L	0.52206	1.635	0.38592	D	0.950457	P	0.49358	0.923	P	0.53146	0.719	T	0.56329	-0.7997	10	0.72032	D	0.01	.	4.0995	0.10007	0.0:0.5973:0.0:0.4027	.	136	A2RRM0	.	Y	136	ENSP00000442401:D136Y;ENSP00000426978:D136Y;ENSP00000355286:D136Y	ENSP00000263032:D136Y	D	-	1	0	NXF5	100982718	0.909000	0.30893	0.017000	0.16124	0.064000	0.16182	0.655000	0.24933	-0.016000	0.14127	0.267000	0.19312	GAC	.		0.522	NXF5-201	KNOWN	basic	protein_coding	protein_coding				A	101096062	C	A	101096062	3	1	31	1	0	0	0	0	1	0	0	0	10825	826	29	3	727	3	NXF5	23	101096062	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	184391	101096062	54174498	2372	7924											
BEX5	340542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101409039	101409039	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccatgaaccgttccatatCatctccatctccatctatca	2	16	5	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101409039C>T	ENST00000543160.1	-	3	500	c.199G>A	c.(199-201)Gat>Aat	p.D67N	BEX5_ENST00000333643.3_Missense_Mutation_p.D67N|BEX5_ENST00000484837.1_5'Flank	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	67						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CGTTCCATATCATCTCCATCT	0.473																																					p.D67N		.											.	BEX5-86	0			c.G199A						.						243	177	199					X																	101409039		2203	4300	6503	SO:0001583	missense	340542	exon3			CCATATCATCTCC	BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"NGFRAP1-like 1", "BEX family member 5"	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.199G>A	X.37:g.101409039C>T	ENSP00000446054:p.Asp67Asn	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	167	34	NM_001012978	0	0	0	0	0	Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388671	0.42308	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.12465	2.68;2.68	4.0	3.1	0.35709	.	0.000000	0.35436	N	0.003202	T	0.16557	0.0398	L	0.31845	0.965	0.26044	N	0.981574	D	0.65815	0.995	D	0.65140	0.932	T	0.04825	-1.0924	10	0.02654	T	1	.	8.5183	0.33259	0.0:0.7684:0.2316:0.0	.	67	Q5H9J7	BEX5_HUMAN	N	67	ENSP00000446054:D67N;ENSP00000328030:D67N	ENSP00000328030:D67N	D	-	1	0	BEX5	101295695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.118000	0.41949	1.023000	0.39654	0.544000	0.68410	GAT	.		0.473	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335		T	101409039	C	T	101409039	3	4	31	1	0	0	0	0	1	0	0	0	1415	826	29	3	140	3	BEX5	23	101409039	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	312977	101409039	53861521	2373	7925											
GPRASP1	9737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101909810	101909810	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtccaaaatgagagcTgggaaggaggccaataacag	13	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101909810T>A	ENST00000361600.5	+	5	1770	c.969T>A	c.(967-969)gcT>gcA	p.A323A	GPRASP1_ENST00000415986.1_Silent_p.A323A|GPRASP1_ENST00000537097.1_Silent_p.A323A|GPRASP1_ENST00000444152.1_Silent_p.A323A|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	323					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						AAATGAGAGCTGGGAAGGAGG	0.468																																					p.A323A		.											.	GPRASP1-131	0			c.T969A						.						84	84	84					X																	101909810		2203	4300	6503	SO:0001819	synonymous_variant	9737	exon3			GAGAGCTGGGAAG	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.969T>A	X.37:g.101909810T>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	46	25	NM_001099411	0	0	0	0	0	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																			.		0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		A	101909810	T	A	101909810	2	1	31	1	0	0	0	0	0	0	0	1	6749	1567	55	5		5	GPRASP1	23	101909810	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	500771	101909810	53360750	2374	7926											
GPRASP2	114928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101970728	101970728	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaggcccagagtcagggagGaggcaaatatcaggtccaag	14	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101970728G>T	ENST00000535209.1	+	4	1762	c.931G>T	c.(931-933)Gag>Tag	p.E311*	GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E311*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E311*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	311						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTCAGGGAGGAGGCAAATAT	0.463																																					p.E311X		.											.	GPRASP2-131	0			c.G931T						.						107	104	105					X																	101970728		2203	4300	6503	SO:0001587	stop_gained	114928	exon4			AGGGAGGAGGCAA	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.931G>T	X.37:g.101970728G>T	ENSP00000437394:p.Glu311*	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	153	41	NM_138437	0	0	0	0	0	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620494	0.97709	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.2	4.2	0.49525	.	0.000000	0.45867	D	0.000337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.8946	8.5055	0.33184	0.0:0.0:0.7699:0.2301	.	.	.	.	X	311	.	ENSP00000339057:E311X	E	+	1	0	GPRASP2	101857384	0.843000	0.29541	0.538000	0.28064	0.052000	0.14988	1.430000	0.34914	2.344000	0.79699	0.600000	0.82982	GAG	.		0.463	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		T	101970728	G	T	101970728	4	4	31	1	0	0	0	0	0	1	0	0	6750	1175	41	3	933	3	GPRASP2	23	101970728	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	60918	101970728	53299832	2375	7927											
BEX1	55859	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	102317893	102317893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgactgcccgcagacTatgactcaactgcttttccc	8	14	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102317893T>C	ENST00000372728.3	-	3	549	c.310A>G	c.(310-312)Agt>Ggt	p.S104G		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	104					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GCCCGCAGACTATGACTCAAC	0.488																																					p.S104G		.											.	BEX1-109	0			c.A310G						.						251	186	208					X																	102317893		2203	4300	6503	SO:0001583	missense	55859	exon3			GCAGACTATGACT		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.310A>G	X.37:g.102317893T>C	ENSP00000361813:p.Ser104Gly	Somatic	252	1		WXS	Illumina GAIIx	Phase_I	290	62	NM_018476	0	0	0	0	0	A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604817	0.28623	.	.	ENSG00000133169	ENST00000372728	T	0.11495	2.77	3.25	2.03	0.26663	.	0.000000	0.53938	D	0.000047	T	0.16769	0.0403	M	0.83483	2.645	0.09310	N	1	P	0.44380	0.834	P	0.45610	0.487	T	0.07868	-1.0750	10	0.41790	T	0.15	.	4.9198	0.13864	0.2739:0.0:0.0:0.7261	.	104	Q9HBH7	BEX1_HUMAN	G	104	ENSP00000361813:S104G	ENSP00000361813:S104G	S	-	1	0	BEX1	102204549	0.000000	0.05858	0.022000	0.16811	0.734000	0.41952	-0.155000	0.10115	0.442000	0.26555	0.486000	0.48141	AGT	.		0.488	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		C	102317893	T	C	102317893	3	2	31	1	0	0	0	0	1	0	0	0	1412	1522	53	4	71	4	BEX1	23	102317893	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	347165	102317893	52952667	2376	7928											
NXF3	56000	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	102334159	102334159	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacactcaccttccttgaaCaccccgttgacagaaaagca	6	14	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102334159C>A	ENST00000395065.3	-	16	1469	c.1368G>T	c.(1366-1368)gtG>gtT	p.V456V	NXF3_ENST00000425644.1_Silent_p.V128V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	456	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCCTTGAACACCCCGTTGA	0.577																																					p.V456V		.											.	NXF3-205	0			c.G1368T						.						246	216	226					X																	102334159		2203	4300	6503	SO:0001819	synonymous_variant	56000	exon16			CTTGAACACCCCG	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1368G>T	X.37:g.102334159C>A		Somatic	481	2		WXS	Illumina GAIIx	Phase_I	432	194	NM_022052	0	0	0	0	0	B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	c	1.619	-0.522078	0.04171	.	.	ENSG00000147206	ENST00000427570	T	0.63580	-0.05	4.22	-0.134	0.13481	.	0.578501	0.17421	N	0.174810	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16958	-1.0385	7	0.20046	T	0.44	4.1432	0.6454	0.00817	0.1714:0.3403:0.1659:0.3224	.	.	.	.	F	333	ENSP00000404017:V333F	ENSP00000404017:V333F	V	-	1	0	NXF3	102220815	0.125000	0.22332	0.336000	0.25522	0.396000	0.30629	-0.998000	0.03701	0.009000	0.14813	-0.286000	0.09958	GTT	.		0.577	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		A	102334159	C	A	102334159	2	1	31	1	0	0	0	0	0	0	0	1	10824	465	17	3		3	NXF3	23	102334159	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	16266	102334159	52936401	2377	7929											
BEX4	56271	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	102471392	102471392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgaggcactatatgcGcttccaaactcctgaacctg	9	12	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102471392G>T	ENST00000372695.5	+	3	546	c.311G>T	c.(310-312)cGc>cTc	p.R104L	BEX4_ENST00000372691.3_Missense_Mutation_p.R104L	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						CACTATATGCGCTTCCAAACT	0.418																																					p.R104L		.											.	BEX4-62	0			c.G311T						.						196	169	178					X																	102471392		2203	4300	6503	SO:0001583	missense	56271	exon3			ATATGCGCTTCCA	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"brain expressed X-linked-like 1", "BEX family member 4"	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.311G>T	X.37:g.102471392G>T	ENSP00000361780:p.Arg104Leu	Somatic	309	2		WXS	Illumina GAIIx	Phase_I	323	118	NM_001080425	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372695.5	37	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320306	0.41096	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49139	0.79;0.79	3.84	0.98	0.19750	.	0.159217	0.30277	N	0.009992	T	0.53498	0.1800	M	0.76170	2.325	0.09310	N	1	P	0.51057	0.941	P	0.49597	0.616	T	0.52290	-0.8595	10	0.66056	D	0.02	.	10.8766	0.46915	0.0:0.5734:0.4266:0.0	.	104	Q9NWD9	BEX4_HUMAN	L	104	ENSP00000361780:R104L;ENSP00000361776:R104L	ENSP00000361776:R104L	R	+	2	0	BEX4	102358048	0.001000	0.12720	0.000000	0.03702	0.829000	0.46940	0.330000	0.19715	0.075000	0.16796	-0.226000	0.12346	CGC	.		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		T	102471392	G	T	102471392	3	4	31	1	0	0	0	0	1	0	0	0	1414	1087	38	2	313	2	BEX4	23	102471392	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	137233	102471392	52799168	2378	7930											
RAB40A	142684	bcgsc.ca	37	chrX	102755188	102755188	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctggccagctccgtgaaaGactctatgatgttgaaattg	10	9	1	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102755188G>T	ENST00000372633.1	-	1	2615	c.497C>A	c.(496-498)tCt>tAt	p.S166Y	RAB40A_ENST00000304236.1_Missense_Mutation_p.S166Y|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	166					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTCCGTGAAAGACTCTATGAT	0.602																																					p.S166Y		.											.	RAB40A-227	0			c.C497A						.						42	36	38					X																	102755188		2203	4297	6500	SO:0001583	missense	142684	exon3			GTGAAAGACTCTA	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.497C>A	X.37:g.102755188G>T	ENSP00000361716:p.Ser166Tyr	Somatic	281	3		WXS	Illumina GAIIx	Phase_I	307	94	NM_080879	0	0	0	0	0	O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046113	0.75846	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	T;T	0.79749	-1.3;-1.3	0.225	0.225	0.15325	.	0.000000	0.47093	U	0.000245	D	0.86192	0.5874	M	0.83774	2.66	0.58432	D	0.999999	D	0.67145	0.996	D	0.65573	0.936	D	0.83790	0.0230	10	0.87932	D	0	.	6.1796	0.20463	4.0E-4:0.0:0.9996:0.0	.	166	Q8WXH6	RB40A_HUMAN	Y	166	ENSP00000361716:S166Y;ENSP00000305648:S166Y	ENSP00000305648:S166Y	S	-	2	0	RAB40A	102641844	1.000000	0.71417	0.917000	0.36280	0.918000	0.54935	6.590000	0.74085	0.280000	0.22209	0.284000	0.19432	TCT	.		0.602	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			T	102755188	G	T	102755188	3	4	31	1	0	0	0	0	1	0	0	0	12984	942	33	3	340	3	RAB40A	23	102755188	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	283796	102755188	52515372	2379	7931											
TCEAL1	9338	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	102884854	102884854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattcccaacatggacaaaCcacgcaaagaaaatgaagaa	6	9	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102884854C>A	ENST00000372625.3	+	3	174	c.10C>A	c.(10-12)Cca>Aca	p.P4T	TCEAL1_ENST00000372626.3_Missense_Mutation_p.P4T|TCEAL1_ENST00000372624.3_Missense_Mutation_p.P4T|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	4					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						CATGGACAAACCACGCAAAGA	0.512																																					p.P4T		.											.	TCEAL1-131	0			c.C10A						.						10	9	9					X																	102884854		2121	4169	6290	SO:0001583	missense	9338	exon3			GACAAACCACGCA	M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.10C>A	X.37:g.102884854C>A	ENSP00000361708:p.Pro4Thr	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	71	18	NM_001006639	0	0	0	0	0	Q9UJQ9	Missense_Mutation	SNP	ENST00000372625.3	37	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642832	0.14451	.	.	ENSG00000172465	ENST00000372626;ENST00000537029;ENST00000372625;ENST00000372624	T;T;T	0.10192	2.9;2.9;2.9	4.3	-4.16	0.03869	.	1.274680	0.05648	N	0.584668	T	0.03095	0.0091	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	9	0.02654	T	1	-2.6246	3.4581	0.07523	0.1353:0.5616:0.147:0.1561	.	4	Q15170-2	.	T	4	ENSP00000361709:P4T;ENSP00000361708:P4T;ENSP00000361707:P4T	ENSP00000361707:P4T	P	+	1	0	TCEAL1	102771510	0.000000	0.05858	0.005000	0.12908	0.572000	0.35998	-1.065000	0.03458	-0.999000	0.03442	-0.380000	0.06706	CCA	.		0.512	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1	NM_004780		A	102884854	C	A	102884854	3	1	31	1	0	0	0	0	1	0	0	0	15717	507	18	3	12	3	TCEAL1	23	102884854	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	129666	102884854	52385706	2380	7932											
MCART6	401612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	103349892	103349892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctggagcctctgctcGcgtcctgtgctgaagctcct	10	15	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:103349892G>T	ENST00000357421.4	-	2	229	c.49C>A	c.(49-51)Cga>Aga	p.R17R		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	17					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCTCTGCTCGCGTCCTGTGC	0.517																																					p.R17R		.											.	.	0			c.C49A						.						53	49	51					X																	103349892		2201	4300	6501	SO:0001819	synonymous_variant	401612	exon2			CTGCTCGCGTCCT		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.49C>A	X.37:g.103349892G>T		Somatic	208	0		WXS	Illumina GAIIx	Phase_I	209	69	NM_001012755	0	0	0	0	0	B2RTT9	Silent	SNP	ENST00000357421.4	37	CCDS35363.1																																																																																			.		0.517	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		T	103349892	G	T	103349892	2	4	31	1	0	0	0	0	0	0	0	1	9409	1095	38	2		2	MCART6	23	103349892	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	465038	103349892	51920668	2381	7933											
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	104464179	104464179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtggtctccatggaggCagccctggcctccacgtggg	14	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:104464179C>A	ENST00000413579.1	-	5	808	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.L233L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L233L			Q9BXU3	TX13A_HUMAN	testis expressed 13A	233							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCATGGAGGCAGCCCTGGCC	0.622																																					p.A233S		.											.	TEX13A-132	0			c.G697T						.						25	26	26					X																	104464179		1974	4131	6105	SO:0001583	missense	56157	exon5			TGGAGGCAGCCCT	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.697G>T	X.37:g.104464179C>A	ENSP00000399753:p.Ala233Ser	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	48	14	NM_031274	0	0	0	0	0	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	3.316	-0.139793	0.06669	.	.	ENSG00000133149	ENST00000413579	.	.	.	1.82	-3.63	0.04529	.	1.503760	0.04809	N	0.434860	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09314	-1.0680	9	0.20046	T	0.44	.	0.661	0.00842	0.3986:0.2444:0.1968:0.1602	.	233	Q9BXU3	TX13A_HUMAN	S	233	.	ENSP00000399753:A233S	A	-	1	0	TEX13A	104350835	.	.	0.000000	0.03702	0.004000	0.04260	.	.	-1.370000	0.02144	-0.536000	0.04276	GCC	.		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104464179	C	A	104464179	3	1	31	1	0	0	0	0	1	0	0	0	15823	697	25	3	536	3	TEX13A	23	104464179	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1114287	104464179	50806381	2382	7934											
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	104465051	104465051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgttgctatgccggaaccCgctactggggtcctcaggtc	12	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:104465051C>A	ENST00000413579.1	-	2	142	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.G11W|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G11W			Q9BXU3	TX13A_HUMAN	testis expressed 13A	11							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537																																					p.G11W		.											.	TEX13A-132	0			c.G31T						.						44	43	43					X																	104465051		2203	4300	6503	SO:0001583	missense	56157	exon2			GGAACCCGCTACT	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.31G>T	X.37:g.104465051C>A	ENSP00000399753:p.Gly11Trp	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	90	33	NM_031274	0	0	0	0	0	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	13.37	2.215752	0.39102	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.48	2.61	0.31194	.	0.000000	0.35179	N	0.003395	T	0.56877	0.2015	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43893	-0.9363	8	0.87932	D	0	.	5.8254	0.18550	0.0:0.8501:0.0:0.1499	.	11;11	C9JWK0;Q9BXU3	.;TX13A_HUMAN	W	11	.	ENSP00000361656:G11W	G	-	1	0	TEX13A	104351707	0.345000	0.24835	0.008000	0.14137	0.009000	0.06853	2.676000	0.46883	0.843000	0.35070	0.506000	0.49869	GGG	.		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104465051	C	A	104465051	3	1	31	1	0	0	0	0	1	0	0	0	15823	652	23	2	1208	2	TEX13A	23	104465051	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	872	104465051	50805509	2383	7935											
IL1RAPL2	26280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105011209	105011209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgatcaagtggaagggatCcaaaagcagcaaattaaatt	9	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105011209C>A	ENST00000372582.1	+	11	2372	c.1616C>A	c.(1615-1617)tCc>tAc	p.S539Y	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S539Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	539	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAAGGGATCCAAAAGCAGC	0.398																																					p.S539Y		.											.	IL1RAPL2-194	0			c.C1616A						.						107	113	111					X																	105011209		2203	4300	6503	SO:0001583	missense	26280	exon11			AGGGATCCAAAAG	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1616C>A	X.37:g.105011209C>A	ENSP00000361663:p.Ser539Tyr	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	162	62	NM_017416	0	0	0	0	0	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622135	0.46840	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02606	4.23;4.23;4.23	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.085071	0.51477	D	0.000087	T	0.03178	0.0093	N	0.24115	0.695	0.24904	N	0.992082	B	0.30236	0.274	B	0.22601	0.04	T	0.41945	-0.9480	10	0.62326	D	0.03	.	17.9632	0.89092	0.0:1.0:0.0:0.0	.	539	Q9NP60	IRPL2_HUMAN	Y	539;539;144	ENSP00000361663:S539Y;ENSP00000344976:S539Y;ENSP00000445576:S144Y	ENSP00000344976:S539Y	S	+	2	0	IL1RAPL2	104897865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.463000	0.83235	0.600000	0.82982	TCC	.		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	105011209	C	A	105011209	3	1	31	1	0	0	0	0	1	0	0	0	7689	855	30	3	1654	3	IL1RAPL2	23	105011209	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	546158	105011209	50259351	2384	7936											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	105132287	105132287	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtctattcttattccatagGatgaggaagaggatctcagg	11	6	3	2	rs267606298		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105132287G>T	ENST00000243300.9	+	5	556	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	NRK_ENST00000536164.1_Splice_Site_p.D85Y|NRK_ENST00000428173.2_Splice_Site_p.D85Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATTCCATAGGATGAGGAAGA	0.403										HNSCC(51;0.14)																											p.D85Y		.											.	NRK-630	0			c.G253T						.						90	75	80					X																	105132287		1880	4094	5974	SO:0001630	splice_region_variant	203447	exon5			CCATAGGATGAGG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.253-1G>T	X.37:g.105132287G>T		Somatic	405	1		WXS	Illumina GAIIx	Phase_I	393	145	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	14.08	2.429831	0.43122	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.37235	1.77;1.77;1.21	4.95	4.95	0.65309	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	0.44902	D	0.000406	T	0.55114	0.1900	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55244	-0.8171	9	.	.	.	.	10.6593	0.45694	0.097:0.0:0.903:0.0	.	85	Q7Z2Y5	NRK_HUMAN	Y	85	ENSP00000434830:D85Y;ENSP00000438378:D85Y;ENSP00000438785:D85Y	.	D	+	1	0	NRK	105018943	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	7.569000	0.82380	2.173000	0.68751	0.594000	0.82650	GAT	.		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Missense_Mutation	T	105132287	G	T	105132287	5	4	31	1	0	0	0	0	0	0	1	0	10694	1188	41	3	271	3	NRK	23	105132287	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	121078	105132287	50138273	2385	7937											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105153825	105153825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggcgccaacgcagatGggaagatatctttaatcagc	11	9	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105153825G>T	ENST00000243300.9	+	13	2495	c.2192G>T	c.(2191-2193)tGg>tTg	p.W731L	NRK_ENST00000428173.2_Missense_Mutation_p.W732L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	731					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAACGCAGATGGGAAGATATC	0.398										HNSCC(51;0.14)																											p.W731L		.											.	NRK-630	0			c.G2192T						.						17	14	15					X																	105153825		1861	4084	5945	SO:0001583	missense	203447	exon13			GCAGATGGGAAGA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2192G>T	X.37:g.105153825G>T	ENSP00000434830:p.Trp731Leu	Somatic	295	0		WXS	Illumina GAIIx	Phase_I	273	68	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	6.705	0.498685	0.12762	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76186	-0.99;-1.0	4.39	4.39	0.52855	.	0.152207	0.31554	N	0.007441	T	0.71676	0.3368	L	0.29908	0.895	0.80722	D	1	D;P	0.57257	0.979;0.58	P;B	0.51615	0.675;0.254	T	0.76085	-0.3088	10	0.87932	D	0	.	13.799	0.63188	0.0:0.0:1.0:0.0	.	399;731	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	731;732	ENSP00000434830:W731L;ENSP00000438378:W732L	ENSP00000434830:W731L	W	+	2	0	NRK	105040481	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	1.359000	0.34113	2.427000	0.82271	0.600000	0.82982	TGG	.		0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105153825	G	T	105153825	3	4	31	1	0	0	0	0	1	0	0	0	10694	1357	47	3	2242	3	NRK	23	105153825	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	21538	105153825	50116735	2386	7938											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105178368	105178368	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcaacacaatcagatttttCtgccaatcactcatctcctt	2	13	6	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105178368C>G	ENST00000243300.9	+	20	3734	c.3431C>G	c.(3430-3432)tCt>tGt	p.S1144C	NRK_ENST00000428173.2_Missense_Mutation_p.S1145C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1144					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGATTTTTCTGCCAATCAC	0.443										HNSCC(51;0.14)																											p.S1144C		.											.	NRK-630	0			c.C3431G						.						163	150	155					X																	105178368		1974	4154	6128	SO:0001583	missense	203447	exon20			ATTTTTCTGCCAA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3431C>G	X.37:g.105178368C>G	ENSP00000434830:p.Ser1144Cys	Somatic	298	0		WXS	Illumina GAIIx	Phase_I	320	92	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	9.126	1.010219	0.19277	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78364	-1.16;-1.17	4.42	3.56	0.40772	.	0.442914	0.19529	N	0.112094	T	0.73024	0.3534	N	0.24115	0.695	0.23238	N	0.998065	D;P	0.59357	0.985;0.876	P;B	0.55999	0.789;0.417	T	0.63139	-0.6704	10	0.66056	D	0.02	.	7.1537	0.25624	0.0:0.8789:0.0:0.1211	.	812;1144	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	1144;1145	ENSP00000434830:S1144C;ENSP00000438378:S1145C	ENSP00000434830:S1144C	S	+	2	0	NRK	105065024	0.796000	0.28864	0.060000	0.19600	0.036000	0.12997	1.220000	0.32491	1.208000	0.43306	0.600000	0.82982	TCT	.		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105178368	C	G	105178368	3	3	31	1	0	0	0	0	1	0	0	0	10694	913	32	3	3509	3	NRK	23	105178368	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	24543	105178368	50092192	2387	7939											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105187993	105187993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatcaattcacctttatgCatgggcaccaaagtcctttg	6	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105187993C>A	ENST00000243300.9	+	24	4322	c.4019C>A	c.(4018-4020)gCa>gAa	p.A1340E	NRK_ENST00000428173.2_Missense_Mutation_p.A1341E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1340	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACCTTTATGCATGGGCACCA	0.318										HNSCC(51;0.14)																											p.A1340E		.											.	NRK-630	0			c.C4019A						.						116	95	102					X																	105187993		1848	4089	5937	SO:0001583	missense	203447	exon24			TTTATGCATGGGC	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4019C>A	X.37:g.105187993C>A	ENSP00000434830:p.Ala1340Glu	Somatic	304	0		WXS	Illumina GAIIx	Phase_I	364	115	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	18.64	3.666759	0.67814	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.03580	3.88;3.88	5.44	2.98	0.34508	Citron-like (2);	0.300318	0.24256	N	0.040136	T	0.13372	0.0324	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	P	0.60012	0.867	T	0.00201	-1.1926	10	0.87932	D	0	.	12.666	0.56842	0.0:0.8983:0.0:0.1017	.	1340	Q7Z2Y5	NRK_HUMAN	E	1340;1341	ENSP00000434830:A1340E;ENSP00000438378:A1341E	ENSP00000434830:A1340E	A	+	2	0	NRK	105074649	1.000000	0.71417	0.729000	0.30791	0.956000	0.61745	3.481000	0.53179	0.314000	0.23086	0.594000	0.82650	GCA	.		0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105187993	C	A	105187993	3	1	31	1	0	0	0	0	1	0	0	0	10694	710	25	3	4113	3	NRK	23	105187993	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	9625	105187993	50082567	2388	7940											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105197070	105197070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatggggccaaaaggccAttgaagtgcgctctttgcaa	13	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105197070A>G	ENST00000243300.9	+	28	4861	c.4558A>G	c.(4558-4560)Att>Gtt	p.I1520V	NRK_ENST00000540278.1_Missense_Mutation_p.I101V|NRK_ENST00000428173.2_Missense_Mutation_p.I1521V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1520	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAAAAGGCCATTGAAGTGCG	0.443										HNSCC(51;0.14)																											p.I1520V		.											.	NRK-630	0			c.A4558G						.						52	49	50					X																	105197070		1863	4105	5968	SO:0001583	missense	203447	exon28			AAGGCCATTGAAG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4558A>G	X.37:g.105197070A>G	ENSP00000434830:p.Ile1520Val	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	299	130	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	14.30	2.495468	0.44352	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.04603	3.59;3.59;3.59	5.88	3.36	0.38483	Citron-like (2);	0.326871	0.22302	N	0.061859	T	0.04952	0.0133	L	0.41236	1.265	0.43390	D	0.995502	B;B	0.19200	0.001;0.034	B;B	0.16722	0.007;0.016	T	0.36407	-0.9749	10	0.51188	T	0.08	.	7.6194	0.28177	0.7872:0.1384:0.0744:0.0	.	101;1520	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	V	1520;1521;101	ENSP00000434830:I1520V;ENSP00000438378:I1521V;ENSP00000438148:I101V	ENSP00000434830:I1520V	I	+	1	0	NRK	105083726	0.996000	0.38824	0.997000	0.53966	0.971000	0.66376	2.988000	0.49386	0.271000	0.22005	0.486000	0.48141	ATT	.		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105197070	A	G	105197070	3	3	31	1	0	0	0	0	1	0	0	0	10694	217	8	4	4668	4	NRK	23	105197070	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	9077	105197070	50073490	2389	7941											
SERPINA7	6906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105279361	105279361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttggatggatcaaaaGgatttgcccactgggcttaa	11	8	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105279361G>A	ENST00000327674.4	-	2	973	c.638C>T	c.(637-639)cCt>cTt	p.P213L	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.P213L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	213					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATCAAAAGGATTTGCCCA	0.393																																					p.P213L		.											.	SERPINA7-226	0			c.C638T						.						154	140	145					X																	105279361		2203	4300	6503	SO:0001583	missense	6906	exon3			TCAAAAGGATTTG	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.638C>T	X.37:g.105279361G>A	ENSP00000329374:p.Pro213Leu	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	115	34	NM_000354	0	0	0	0	0	D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228578	0.58777	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.85339	-1.97;-1.97	4.41	3.55	0.40652	Serpin domain (3);	0.000000	0.64402	D	0.000006	D	0.93177	0.7827	M	0.93594	3.435	0.51767	D	0.999935	D	0.89917	1.0	D	0.91635	0.999	D	0.93039	0.6455	10	0.87932	D	0	.	9.3443	0.38098	0.1091:0.0:0.8909:0.0	.	213	P05543	THBG_HUMAN	L	213	ENSP00000329374:P213L;ENSP00000361644:P213L	ENSP00000329374:P213L	P	-	2	0	SERPINA7	105166017	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.157000	0.64911	0.988000	0.38734	0.594000	0.82650	CCT	.		0.393	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		A	105279361	G	A	105279361	3	1	31	1	0	0	0	0	1	0	0	0	14139	1000	35	3	621	3	SERPINA7	23	105279361	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	82291	105279361	49991199	2390	7942											
TBC1D8B	54885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	106083404	106083404	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattccagaaacattaagaGgagaactctggatgcttttt	10	6	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106083404G>T	ENST00000357242.5	+	9	1654	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.G488*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.G494*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	494	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACATTAAGAGGAGAACTCTG	0.358																																					p.G494X		.											.	TBC1D8B-133	0			c.G1480T						.						134	125	128					X																	106083404		2203	4300	6503	SO:0001587	stop_gained	54885	exon9			TTAAGAGGAGAAC	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1480G>T	X.37:g.106083404G>T	ENSP00000349781:p.Gly494*	Somatic	394	0		WXS	Illumina GAIIx	Phase_I	392	131	NM_198881	0	0	0	0	0	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.383069	0.98786	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.8843	17.2364	0.87000	0.0:0.0:1.0:0.0	.	.	.	.	X	494;494;488	.	ENSP00000276175:G488X	G	+	1	0	TBC1D8B	105970060	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.474000	0.83562	0.600000	0.82982	GGA	.		0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		T	106083404	G	T	106083404	4	4	31	1	0	0	0	0	0	1	0	0	15673	1001	35	3	1514	3	TBC1D8B	23	106083404	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	804043	106083404	49187156	2391	7943											
CLDN2	9075	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	106172103	106172103	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggcctggtcaacctccCaaagtcaagagtgagttcaa	9	12	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106172103C>A	ENST00000541806.1	+	2	1164	c.645C>A	c.(643-645)ccC>ccA	p.P215P	CLDN2_ENST00000540876.1_Silent_p.P215P|CLDN2_ENST00000336803.1_Silent_p.P215P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	215					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTCAACCTCCCAAAGTCAAGA	0.542																																					p.P215P		.											.	CLDN2-131	0			c.C645A						.						94	84	88					X																	106172103		2203	4300	6503	SO:0001819	synonymous_variant	9075	exon2			ACCTCCCAAAGTC	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.645C>A	X.37:g.106172103C>A		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	130	40	NM_001171092	0	0	0	0	0	B2R6B9	Silent	SNP	ENST00000541806.1	37	CCDS14524.1																																																																																			.		0.542	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			A	106172103	C	A	106172103	2	1	31	1	0	0	0	0	0	0	0	1	3488	581	21	3		3	CLDN2	23	106172103	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	88699	106172103	49098457	2392	7944											
MORC4	79710	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	106185911	106185911	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcagcagggattgcagcaGaggccacagaataaggcact	13	10	0	2	rs150736453		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106185911G>T	ENST00000355610.4	-	15	2484	c.2210C>A	c.(2209-2211)tCt>tAt	p.S737Y	MORC4_ENST00000535534.1_Missense_Mutation_p.S485Y|MORC4_ENST00000255495.7_Missense_Mutation_p.S737Y	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	737						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GATTGCAGCAGAGGCCACAGA	0.502																																					p.S737Y		.											.	MORC4-131	0			c.C2210A						.						134	127	129					X																	106185911		2203	4300	6503	SO:0001583	missense	79710	exon15			GCAGCAGAGGCCA	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2210C>A	X.37:g.106185911G>T	ENSP00000347821:p.Ser737Tyr	Somatic	130	2		WXS	Illumina GAIIx	Phase_I	184	71	NM_001085354	0	0	0	0	0	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	g	13.63	2.293623	0.40594	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.32753	2.69;1.44;2.68	3.09	3.09	0.35607	.	0.739778	0.11681	N	0.539829	T	0.44644	0.1303	L	0.47716	1.5	0.30751	N	0.745167	D;D;D	0.61697	0.989;0.989;0.99	P;D;D	0.71656	0.857;0.923;0.974	T	0.35525	-0.9785	10	0.46703	T	0.11	-7.228	8.8966	0.35467	0.0:0.0:1.0:0.0	.	485;737;737	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	Y	737;485;737	ENSP00000347821:S737Y;ENSP00000440359:S485Y;ENSP00000255495:S737Y	ENSP00000255495:S737Y	S	-	2	0	MORC4	106072567	0.019000	0.18553	0.843000	0.33291	0.995000	0.86356	1.744000	0.38268	1.830000	0.53286	0.597000	0.82753	TCT	G|1.000;A|0.000		0.502	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		T	106185911	G	T	106185911	3	4	31	1	0	0	0	0	1	0	0	0	9742	942	33	3	615	3	MORC4	23	106185911	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	13808	106185911	49084649	2393	7945											
MORC4	79710	bcgsc.ca	37	chrX	106242923	106242923	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctagcagctccgcgatGgcactgaagggtcgcgtgtg	14	12	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106242923G>T	ENST00000355610.4	-	2	433	c.159C>A	c.(157-159)gcC>gcA	p.A53A	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Silent_p.A53A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	53						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GCTCCGCGATGGCACTGAAGG	0.711																																					p.A53A		.											.	MORC4-131	0			c.C159A						.						8	11	10					X																	106242923		1881	3891	5772	SO:0001819	synonymous_variant	79710	exon2			CGCGATGGCACTG	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.159C>A	X.37:g.106242923G>T		Somatic	42	1		WXS	Illumina GAIIx	Phase_I	166	72	NM_001085354	0	0	0	0	0	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	ENST00000355610.4	37	CCDS14525.2																																																																																			.		0.711	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		T	106242923	G	T	106242923	2	4	31	1	0	0	0	0	0	0	0	1	9742	1335	47	3		3	MORC4	23	106242923	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	57012	106242923	49027637	2394	7946											
COL4A6	1288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107420097	107420097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagagagggctggcaacCcagcgacccctggagagcct	14	14	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107420097C>A	ENST00000372216.4	-	28	2763	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	COL4A6_ENST00000334504.7_Missense_Mutation_p.G887V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G887V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G888V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G887V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	888	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCTGGCAACCCAGCGACCCC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												p.G888V	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G2663T						.						119	121	120					X																	107420097		2203	4300	6503	SO:0001583	missense	1288	exon28	Familial Cancer Database		GGCAACCCAGCGA	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2663G>T	X.37:g.107420097C>A	ENSP00000361290:p.Gly888Val	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	166	60	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.497216	0.26861	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-4.85;-4.85;-4.85;-6.29;-6.29	4.28	4.28	0.50868	.	0.000000	0.43110	D	0.000606	D	0.99799	0.9914	H	0.97896	4.1	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	0.96630	0.9466	10	0.87932	D	0	.	16.9041	0.86122	0.0:1.0:0.0:0.0	.	887;887;888;887	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	888;887;888;887;887;887	ENSP00000361290:G888V;ENSP00000334733:G887V;ENSP00000378340:G888V;ENSP00000443707:G887V;ENSP00000445236:G887V	ENSP00000334733:G887V	G	-	2	0	COL4A6	107306753	1.000000	0.71417	0.367000	0.25926	0.098000	0.18820	6.409000	0.73289	2.378000	0.81104	0.436000	0.28706	GGG	.		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107420097	C	A	107420097	3	1	31	1	0	0	0	0	1	0	0	0	3702	623	22	3	2484	3	COL4A6	23	107420097	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1177174	107420097	47850463	2395	7947											
COL4A5	1287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	107911571	107911571	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaagggtgatggaggattAcctgggattccaggaaatcc	13	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107911571A>T	ENST00000361603.2	+	41	3871	c.3627A>T	c.(3625-3627)ttA>ttT	p.L1209F	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1209F	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1209	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						ATGGAGGATTACCTGGGATTC	0.473									Alport syndrome with Diffuse Leiomyomatosis																												p.L1209F		.											.	COL4A5-133	0			c.A3627T						.						61	57	58					X																	107911571		2203	4300	6503	SO:0001583	missense	1287	exon41	Familial Cancer Database		AGGATTACCTGGG	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.3627A>T	X.37:g.107911571A>T	ENSP00000354505:p.Leu1209Phe	Somatic	274	2		WXS	Illumina GAIIx	Phase_I	294	78	NM_000495	0	0	0	0	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	3.989	-0.004806	0.07773	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93604	-3.25;-3.25	5.97	0.466	0.16716	.	0.638067	0.15473	N	0.260510	T	0.80380	0.4612	N	0.20328	0.56	0.30880	N	0.731567	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.67043	-0.5770	10	0.02654	T	1	.	0.6698	0.00857	0.4423:0.1201:0.2062:0.2314	.	1209;1209	E7EVY4;P29400	.;CO4A5_HUMAN	F	1209	ENSP00000331902:L1209F;ENSP00000354505:L1209F	ENSP00000331902:L1209F	L	+	3	2	COL4A5	107798227	0.049000	0.20398	0.999000	0.59377	0.794000	0.44872	-0.299000	0.08254	0.316000	0.23135	0.481000	0.45027	TTA	.		0.473	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107911571	A	T	107911571	3	4	31	1	0	0	0	0	1	0	0	0	3701	388	14	5	3789	5	COL4A5	23	107911571	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	491474	107911571	47358989	2396	7948											
IRS4	8471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107976957	107976957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatctgaaggctttgaaGgtgatcccccatctccaggc	10	12	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107976957G>A	ENST00000372129.2	-	1	2694	c.2618C>T	c.(2617-2619)cCt>cTt	p.P873L	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	873					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGCTTTGAAGGTGATCCCCC	0.438																																					p.P873L		.											.	IRS4-623	0			c.C2618T						.						176	183	180					X																	107976957		2203	4300	6503	SO:0001583	missense	8471	exon1			TTTGAAGGTGATC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2618C>T	X.37:g.107976957G>A	ENSP00000361202:p.Pro873Leu	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	117	35	NM_003604	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	6.850	0.526009	0.13066	.	.	ENSG00000133124	ENST00000372129	T	0.20738	2.05	5.08	1.27	0.21489	.	0.927814	0.09253	N	0.827651	T	0.14356	0.0347	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	10	0.32370	T	0.25	1.1299	4.9432	0.13976	0.3095:0.2705:0.4199:0.0	.	873	O14654	IRS4_HUMAN	L	873	ENSP00000361202:P873L	ENSP00000361202:P873L	P	-	2	0	IRS4	107863613	0.005000	0.15991	0.000000	0.03702	0.022000	0.10575	0.259000	0.18405	-0.073000	0.12842	-0.190000	0.12839	CCT	.		0.438	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107976957	G	A	107976957	3	1	31	1	0	0	0	0	1	0	0	0	7869	1000	35	3	1159	3	IRS4	23	107976957	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	65386	107976957	47293603	2397	7949											
GUCY2F	2986	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	108708517	108708517	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggttgttccttaggacccGgtagggggtgtgcttataag	16	6	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:108708517G>T	ENST00000218006.2	-	3	1177	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	296			R -> Q (in dbSNP:rs502209). {ECO:0000269|PubMed:7777544}.		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						CTTAGGACCCGGTAGGGGGTG	0.468																																					p.R296R		.											.	GUCY2F-540	0			c.C886A						.						141	118	126					X																	108708517		2203	4300	6503	SO:0001819	synonymous_variant	2986	exon3			GGACCCGGTAGGG	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.886C>A	X.37:g.108708517G>T		Somatic	212	1		WXS	Illumina GAIIx	Phase_I	234	84	NM_001522	0	0	0	0	0	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																			.		0.468	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		T	108708517	G	T	108708517	2	4	31	1	0	0	0	0	0	0	0	1	6925	1115	39	2		2	GUCY2F	23	108708517	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	731560	108708517	46562043	2398	7950											
AMMECR1	9949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	109507776	109507776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggcagaaaaagtacctatGcatccacgtaatcttttgtc	7	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109507776G>C	ENST00000262844.5	-	2	692	c.525C>G	c.(523-525)tgC>tgG	p.C175W	AMMECR1_ENST00000372057.1_Missense_Mutation_p.C52W|AMMECR1_ENST00000372059.2_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	175	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AAGTACCTATGCATCCACGTA	0.363																																					p.C175W		.											.	AMMECR1-130	0			c.C525G						.						157	142	147					X																	109507776		2203	4300	6503	SO:0001583	missense	9949	exon2			ACCTATGCATCCA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.525C>G	X.37:g.109507776G>C	ENSP00000262844:p.Cys175Trp	Somatic	334	0		WXS	Illumina GAIIx	Phase_I	375	105	NM_015365	0	0	0	0	0	Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442989	0.63067	.	.	ENSG00000101935	ENST00000262844;ENST00000372057	.	.	.	5.41	5.41	0.78517	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93547	0.6883	8	.	.	.	-25.6047	12.8036	0.57601	0.0801:0.0:0.9198:0.0	.	175	Q9Y4X0	AMER1_HUMAN	W	175;52	.	.	C	-	3	2	AMMECR1	109394432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.075000	0.71261	2.402000	0.81655	0.600000	0.82982	TGC	.		0.363	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			C	109507776	G	C	109507776	3	2	31	1	0	0	0	0	1	0	0	0	578	1311	46	3	496	3	AMMECR1	23	109507776	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	799259	109507776	45762784	2399	7951											
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	109696335	109696335	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagccacagcctctggaatGatgtcatccatgccacaagt	8	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109696335G>C	ENST00000465301.2	+	3	2736	c.2490G>C	c.(2488-2490)atG>atC	p.M830I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M830I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	830										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCTGGAATGATGTCATCCA	0.527																																					p.M830I		.											.	RGAG1-132	0			c.G2490C						.						145	137	140					X																	109696335		2203	4300	6503	SO:0001583	missense	57529	exon3			TGGAATGATGTCA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2490G>C	X.37:g.109696335G>C	ENSP00000419786:p.Met830Ile	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	187	60	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.235477	0.01505	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.40476	1.03;1.03	4.26	2.5	0.30297	.	0.614814	0.13504	N	0.383057	T	0.33847	0.0877	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22103	-1.0226	9	.	.	.	1.8579	7.886	0.29651	0.2131:0.0:0.7869:0.0	.	830	Q8NET4	RGAG1_HUMAN	I	830	ENSP00000419786:M830I;ENSP00000441452:M830I	.	M	+	3	0	RGAG1	109582991	0.536000	0.26378	0.500000	0.27589	0.776000	0.43924	1.187000	0.32090	0.560000	0.29169	-0.322000	0.08575	ATG	.		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		C	109696335	G	C	109696335	3	2	31	1	0	0	0	0	1	0	0	0	13319	1290	45	3	2492	3	RGAG1	23	109696335	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	188559	109696335	45574225	2400	7952											
RGAG1	57529	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	109696663	109696663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggacatatgtccactgcaCaaacaacagccatggtctct	7	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109696663C>A	ENST00000465301.2	+	3	3064	c.2818C>A	c.(2818-2820)Caa>Aaa	p.Q940K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q940K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	940										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCACTGCACAAACAACAGC	0.522																																					p.Q940K		.											.	RGAG1-132	0			c.C2818A						.						96	100	99					X																	109696663		2203	4300	6503	SO:0001583	missense	57529	exon3			ACTGCACAAACAA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2818C>A	X.37:g.109696663C>A	ENSP00000419786:p.Gln940Lys	Somatic	157	3		WXS	Illumina GAIIx	Phase_I	153	48	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198682	0.38806	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46063	0.88;0.88	4.19	3.31	0.37934	.	1.218880	0.06382	N	0.715337	T	0.37812	0.1017	L	0.52126	1.63	0.09310	N	1	B	0.13594	0.008	B	0.19391	0.025	T	0.28650	-1.0037	9	.	.	.	-1.9478	6.2869	0.21039	0.2131:0.584:0.2029:0.0	.	940	Q8NET4	RGAG1_HUMAN	K	940	ENSP00000419786:Q940K;ENSP00000441452:Q940K	.	Q	+	1	0	RGAG1	109583319	0.191000	0.23288	0.172000	0.22920	0.777000	0.43975	0.676000	0.25247	1.083000	0.41159	0.556000	0.70494	CAA	.		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109696663	C	A	109696663	3	1	31	1	0	0	0	0	1	0	0	0	13319	479	17	3	2820	3	RGAG1	23	109696663	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	328	109696663	45573897	2401	7953											
CAPN6	827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	110490730	110490730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccaaatatgggtttaCagctggaacaaagtgacata	10	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110490730C>A	ENST00000324068.1	-	12	1776	c.1609G>T	c.(1609-1611)Gta>Tta	p.V537L	CAPN6_ENST00000541758.1_Missense_Mutation_p.V282L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	537	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TATGGGTTTACAGCTGGAACA	0.403																																					p.V537L		.											.	CAPN6-195	0			c.G1609T						.						111	94	100					X																	110490730		2203	4300	6503	SO:0001583	missense	827	exon12			GGTTTACAGCTGG	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1609G>T	X.37:g.110490730C>A	ENSP00000317214:p.Val537Leu	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	149	51	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002027	0.54254	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.69175	-0.38;-0.38	4.99	4.13	0.48395	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.503594	0.17873	N	0.159115	T	0.47857	0.1468	N	0.08118	0	0.30542	N	0.766362	P	0.39216	0.664	B	0.43082	0.407	T	0.49428	-0.8941	10	0.36615	T	0.2	.	7.5078	0.27555	0.0:0.7435:0.1634:0.0931	.	537	Q9Y6Q1	CAN6_HUMAN	L	537;282	ENSP00000317214:V537L;ENSP00000441736:V282L	ENSP00000317214:V537L	V	-	1	0	CAPN6	110377386	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.037000	0.49775	1.092000	0.41356	0.517000	0.50305	GTA	.		0.403	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			A	110490730	C	A	110490730	3	1	31	1	0	0	0	0	1	0	0	0	2637	478	17	3	324	3	CAPN6	23	110490730	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	794067	110490730	44779830	2402	7954											
DCX	1641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	110653544	110653544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcgctgtgagtggggCtaggcaacccattcatccgg	16	10	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110653544C>T	ENST00000338081.3	-	2	497	c.326G>A	c.(325-327)aGc>aAc	p.S109N	DCX_ENST00000488120.1_Missense_Mutation_p.S28N|DCX_ENST00000371993.2_Missense_Mutation_p.S28N|DCX_ENST00000356220.3_Missense_Mutation_p.S28N|DCX_ENST00000356915.2_Missense_Mutation_p.S28N|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	109					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTGAGTGGGGCTAGGCAACCC	0.498																																					p.S109N		.											.	DCX-554	0			c.G326A						.						181	152	162					X																	110653544		2203	4300	6503	SO:0001583	missense	1641	exon2			GTGGGGCTAGGCA	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.326G>A	X.37:g.110653544C>T	ENSP00000337697:p.Ser109Asn	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	227	72	NM_000555	0	0	0	0	0	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.126490|4.126490	0.77549|0.77549	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|T;T;T;T;T;T	.|0.52983	.|1.51;1.51;1.38;1.51;1.51;0.64	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	.|0.082145	.|0.85682	.|D	.|0.000000	T|T	0.52092|0.52092	0.1713|0.1713	L|L	0.29908|0.29908	0.895|0.895	0.48511|0.48511	D|D	0.99966|0.99966	.|P;D	.|0.65815	.|0.947;0.995	.|P;P	.|0.58013	.|0.677;0.831	T|T	0.56667|0.56667	-0.7941|-0.7941	5|10	.|0.72032	.|D	.|0.01	.|.	14.6584|14.6584	0.68850|0.68850	0.1461:0.8539:0.0:0.0|0.1461:0.8539:0.0:0.0	.|.	.|97;109	.|B4DM53;O43602	.|.;DCX_HUMAN	T|N	101|28;28;109;28;28;28	.|ENSP00000349385:S28N;ENSP00000361061:S28N;ENSP00000337697:S109N;ENSP00000348553:S28N;ENSP00000419861:S28N;ENSP00000418811:S28N	.|ENSP00000337697:S109N	A|S	-|-	1|2	0|0	DCX|DCX	110540200|110540200	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.995000|0.995000	0.86356|0.86356	7.651000|7.651000	0.83577|0.83577	1.227000|1.227000	0.43598|0.43598	0.513000|0.513000	0.50165|0.50165	GCC|AGC	.		0.498	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		T	110653544	C	T	110653544	3	4	31	1	0	0	0	0	1	0	0	0	4327	797	28	3	1038	3	DCX	23	110653544	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	162814	110653544	44617016	2403	7955											
ALG13	79868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	110964940	110964940	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttggacagcagaaaagGtaaagaaatatcaacaggat	11	4	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110964940G>T	ENST00000394780.3	+	12	1447		c.e12+1		ALG13_ENST00000251943.4_Splice_Site	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGCAGAAAAGGTAAAGAAATA	0.348																																					.		.											.	ALG13-130	0			c.1123+1G>T						.						57	45	49					X																	110964940		1566	3582	5148	SO:0001630	splice_region_variant	79868	exon12			GAAAAGGTAAAGA	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1435+1G>T	X.37:g.110964940G>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	125	24	NM_001257230	0	0	0	0	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Splice_Site	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947215	0.73672	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6521	0.91433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG13	110851596	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.184000	0.89702	2.349000	0.79799	0.523000	0.50628	.	.		0.348	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	Intron	T	110964940	G	T	110964940	5	4	31	1	0	0	0	0	0	0	1	0	515	1275	44	3	1624	3	ALG13	23	110964940	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	311396	110964940	44305620	2404	7956											
TRPC5	7224	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	111025191	111025191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaagttgcgccttctcCgtctaccgtcagggtctctt	8	14	5	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111025191C>T	ENST00000262839.2	-	8	2990	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	691					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						GCGCCTTCTCCGTCTACCGTC	0.438																																					p.R691Q		.											.	TRPC5-130	0			c.G2072A						.						113	108	109					X																	111025191		2203	4300	6503	SO:0001583	missense	7224	exon8			CTTCTCCGTCTAC	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.2072G>A	X.37:g.111025191C>T	ENSP00000262839:p.Arg691Gln	Somatic	137	2		WXS	Illumina GAIIx	Phase_I	159	49	NM_012471	0	0	0	0	0	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317557	0.40996	.	.	ENSG00000072315	ENST00000262839	D	0.81908	-1.55	5.72	3.94	0.45596	.	0.274255	0.34853	N	0.003628	T	0.68751	0.3035	L	0.39898	1.24	0.09310	N	0.999995	B;P	0.35982	0.0;0.531	B;B	0.26517	0.0;0.07	T	0.59139	-0.7510	10	0.33141	T	0.24	-10.0669	5.2517	0.15524	0.0:0.5782:0.0:0.4217	.	692;691	Q59G51;Q9UL62	.;TRPC5_HUMAN	Q	691	ENSP00000262839:R691Q	ENSP00000262839:R691Q	R	-	2	0	TRPC5	110911847	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	4.271000	0.58902	1.179000	0.42884	0.594000	0.82650	CGG	.		0.438	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		T	111025191	C	T	111025191	3	4	31	1	0	0	0	0	1	0	0	0	16630	652	23	1	865	1	TRPC5	23	111025191	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	60251	111025191	44245369	2405	7957											
ZCCHC16	340595	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	111698228	111698228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaatctctaatcctgCaaatgatgcccagatcaaac	4	13	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111698228C>A	ENST00000340433.2	+	1	502	c.272C>A	c.(271-273)gCa>gAa	p.A91E		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	91							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTAATCCTGCAAATGATGCC	0.448																																					p.A91E		.											.	ZCCHC16-91	0			c.C272A						.						116	96	103					X																	111698228		2203	4300	6503	SO:0001583	missense	340595	exon3			ATCCTGCAAATGA	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.272C>A	X.37:g.111698228C>A	ENSP00000340590:p.Ala91Glu	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	153	36	NM_001004308	0	0	0	0	0	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	2.496	-0.316235	0.05422	.	.	ENSG00000187823	ENST00000340433	T	0.50001	0.76	3.91	0.174	0.15040	.	1.325180	0.05688	N	0.591633	T	0.29389	0.0732	N	0.20986	0.625	0.09310	N	1	P	0.36535	0.557	B	0.30495	0.116	T	0.15983	-1.0418	10	0.31617	T	0.26	0.6541	6.2484	0.20832	0.0:0.5188:0.0:0.4812	.	91	Q6ZR62	ZCH16_HUMAN	E	91	ENSP00000340590:A91E	ENSP00000340590:A91E	A	+	2	0	ZCCHC16	111584884	0.001000	0.12720	0.000000	0.03702	0.127000	0.20565	-0.251000	0.08818	-0.103000	0.12175	0.529000	0.55759	GCA	.		0.448	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		A	111698228	C	A	111698228	3	1	31	1	0	0	0	0	1	0	0	0	17632	710	25	3	274	3	ZCCHC16	23	111698228	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	673037	111698228	43572332	2406	7958											
ZCCHC16	340595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	111698591	111698591	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccagacctgatcactcagtGcattcagttggacaagaaac	8	11	3	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111698591G>C	ENST00000340433.2	+	1	865	c.635G>C	c.(634-636)tGc>tCc	p.C212S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	212							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCACTCAGTGCATTCAGTTG	0.483																																					p.C212S		.											.	ZCCHC16-91	0			c.G635C						.						155	131	139					X																	111698591		2203	4300	6503	SO:0001583	missense	340595	exon3			CTCAGTGCATTCA	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.635G>C	X.37:g.111698591G>C	ENSP00000340590:p.Cys212Ser	Somatic	325	0		WXS	Illumina GAIIx	Phase_I	333	114	NM_001004308	0	0	0	0	0	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122433	0.56613	.	.	ENSG00000187823	ENST00000340433	T	0.43688	0.94	4.12	4.12	0.48240	.	0.292459	0.24983	N	0.034052	T	0.54743	0.1877	L	0.60455	1.87	0.37416	D	0.913448	D	0.89917	1.0	D	0.87578	0.998	T	0.53613	-0.8414	10	0.17369	T	0.5	-5.4659	10.7666	0.46297	0.0:0.0:1.0:0.0	.	212	Q6ZR62	ZCH16_HUMAN	S	212	ENSP00000340590:C212S	ENSP00000340590:C212S	C	+	2	0	ZCCHC16	111585247	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.301000	0.43628	2.304000	0.77564	0.529000	0.55759	TGC	.		0.483	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		C	111698591	G	C	111698591	3	2	31	1	0	0	0	0	1	0	0	0	17632	1319	46	3	637	3	ZCCHC16	23	111698591	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	363	111698591	43571969	2407	7959											
LUZP4	51213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	114540824	114540824	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaagaatcaaggccagtcaGaggggaaccagcatcaatca	11	9	4	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114540824G>C	ENST00000371920.3	+	4	404	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	133						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGCCAGTCAGAGGGGAACCA	0.433																																					p.E133Q		.											.	LUZP4-132	0			c.G397C						.						75	72	73					X																	114540824		2203	4300	6503	SO:0001583	missense	51213	exon4			CAGTCAGAGGGGA	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.397G>C	X.37:g.114540824G>C	ENSP00000360988:p.Glu133Gln	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	302	106	NM_016383	0	0	0	0	0	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021272	0.35701	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	D;T	0.81996	-1.56;-1.17	2.99	-0.128	0.13506	.	0.523251	0.14244	N	0.331866	T	0.69628	0.3132	L	0.29908	0.895	0.09310	N	1	P;P	0.41041	0.582;0.736	B;B	0.38803	0.282;0.207	T	0.59408	-0.7460	10	0.44086	T	0.13	.	6.5375	0.22363	0.4425:0.0:0.5575:0.0	.	51;133	B3KSD6;Q9P127	.;LUZP4_HUMAN	Q	51;133	ENSP00000411212:E51Q;ENSP00000360988:E133Q	ENSP00000360988:E133Q	E	+	1	0	LUZP4	114447080	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	0.266000	0.18534	-0.142000	0.11354	0.462000	0.41574	GAG	.		0.433	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		C	114540824	G	C	114540824	3	2	31	1	0	0	0	0	1	0	0	0	9123	943	33	3	411	3	LUZP4	23	114540824	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2842233	114540824	40729736	2408	7960											
SLC6A14	11254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	115568956	115568956	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgatattttttcttccccAgaaagtgtcggcttcatcag	8	9	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:115568956A>C	ENST00000371900.4	+	2	136		c.e2-1			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTCTTCCCCAGAAAGTGTCG	0.388																																					.		.											.	SLC6A14-133	0			c.49-2A>C						.						168	181	177					X																	115568956		2203	4300	6503	SO:0001630	splice_region_variant	11254	exon2			TTCCCCAGAAAGT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.49-1A>C	X.37:g.115568956A>C		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	61	13	NM_007231	0	0	0	0	0	Q5H942	Splice_Site	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.102879	0.56183	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1113	0.42563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115482984	0.999000	0.42202	0.980000	0.43619	0.921000	0.55340	4.674000	0.61612	1.912000	0.55364	0.441000	0.28932	.	.		0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Intron	C	115568956	A	C	115568956	5	2	31	1	0	0	0	0	0	0	1	0	14722	202	7	5	53	5	SLC6A14	23	115568956	Splice_Site	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1028132	115568956	39701604	2409	7961											
CXorf61	203413	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	115593996	115593996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacacagaatgctgctcgCtaggagtaaatagaagttca	11	8	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:115593996C>T	ENST00000371894.4	-	1	168	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		8						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						ATGCTGCTCGCTAGGAGTAAA	0.498																																					p.A8T		.											.	CXorf61-130	0			c.G22A						.						202	161	175					X																	115593996		2203	4300	6503	SO:0001583	missense	203413	exon1			TGCTCGCTAGGAG																												ENST00000371894.4:c.22G>A	X.37:g.115593996C>T	ENSP00000360961:p.Ala8Thr	Somatic	367	2		WXS	Illumina GAIIx	Phase_I	405	155	NM_001017978	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371894.4	37	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142715	0.37825	.	.	ENSG00000204019	ENST00000371894	.	.	.	3.46	-6.05	0.02172	.	1.760340	0.03861	N	0.273891	T	0.20047	0.0482	N	0.24115	0.695	0.09310	N	1	B	0.27732	0.187	B	0.24701	0.055	T	0.13176	-1.0519	9	0.62326	D	0.03	2.8824	2.2369	0.04011	0.1258:0.1476:0.4005:0.3261	.	8	Q5H943	KKLC1_HUMAN	T	8	.	ENSP00000360961:A8T	A	-	1	0	CXorf61	115508024	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.303000	0.01135	-1.762000	0.01308	-0.348000	0.07805	GCG	.		0.498	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			T	115593996	C	T	115593996	3	4	31	1	0	0	0	0	1	0	0	0	4125	797	28	3	327	3	CXorf61	23	115593996	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25040	115593996	39676564	2410	7962											
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117043644	117043644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatggcagtcctgtctgacTgcataactggctgcatatat	9	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117043644T>A	ENST00000262820.3	-	5	1895	c.986A>T	c.(985-987)cAg>cTg	p.Q329L	KLHL13_ENST00000539496.1_Missense_Mutation_p.Q332L|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q313L|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q313L|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q287L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	329					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTGTCTGACTGCATAACTGG	0.458																																					p.Q332L		.											.	KLHL13-556	0			c.A995T						.						126	103	111					X																	117043644		2203	4300	6503	SO:0001583	missense	90293	exon6			TCTGACTGCATAA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.986A>T	X.37:g.117043644T>A	ENSP00000262820:p.Gln329Leu	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	190	71	NM_001168299	0	0	0	0	0	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934216	0.73442	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.69;-0.69;-0.61;-0.61;-0.71;-0.71;-0.68;-0.69	4.88	4.88	0.63580	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.89715	3.055	0.80722	D	1	P;D;P;P	0.76494	0.86;0.999;0.875;0.781	P;D;P;B	0.69307	0.535;0.963;0.666;0.334	D	0.88382	0.3002	10	0.62326	D	0.03	.	13.6157	0.62105	0.0:0.0:0.0:1.0	.	313;332;323;329	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	L	278;278;278;278;313;313;332;329;287;278	ENSP00000360949:Q278L;ENSP00000360943:Q278L;ENSP00000360945:Q278L;ENSP00000412640:Q278L;ENSP00000444450:Q313L;ENSP00000441029:Q313L;ENSP00000443191:Q332L;ENSP00000262820:Q329L;ENSP00000440707:Q287L;ENSP00000419803:Q278L	ENSP00000262820:Q329L	Q	-	2	0	KLHL13	116927672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.868000	0.87116	1.787000	0.52448	0.481000	0.45027	CAG	.		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		A	117043644	T	A	117043644	3	1	31	1	0	0	0	0	1	0	0	0	8396	1580	55	5	993	5	KLHL13	23	117043644	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	1449648	117043644	38226916	2411	7963											
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117043657	117043657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgactgcataactggctGcatatatggcatcatttggt	10	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117043657G>T	ENST00000262820.3	-	5	1882	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	KLHL13_ENST00000539496.1_Missense_Mutation_p.Q328K|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q309K|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q309K|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q283K	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	325					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACTGGCTGCATATATGGC	0.453																																					p.Q328K		.											.	KLHL13-556	0			c.C982A						.						125	103	111					X																	117043657		2203	4300	6503	SO:0001583	missense	90293	exon6			CTGGCTGCATATA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.973C>A	X.37:g.117043657G>T	ENSP00000262820:p.Gln325Lys	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	195	78	NM_001168299	0	0	0	0	0	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103483	0.76983	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71934	-0.59;-0.59;-0.59;-0.59;-0.51;-0.51;-0.61;-0.61;-0.58;-0.59	4.88	4.88	0.63580	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.998;0.984	D;D;D;P	0.91635	0.965;0.999;0.988;0.895	D	0.87596	0.2494	10	0.42905	T	0.14	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	309;328;319;325	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	K	274;274;274;274;309;309;328;325;283;274	ENSP00000360949:Q274K;ENSP00000360943:Q274K;ENSP00000360945:Q274K;ENSP00000412640:Q274K;ENSP00000444450:Q309K;ENSP00000441029:Q309K;ENSP00000443191:Q328K;ENSP00000262820:Q325K;ENSP00000440707:Q283K;ENSP00000419803:Q274K	ENSP00000262820:Q325K	Q	-	1	0	KLHL13	116927685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	CAG	.		0.453	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117043657	G	T	117043657	3	4	31	1	0	0	0	0	1	0	0	0	8396	1328	46	3	1006	3	KLHL13	23	117043657	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	13	117043657	38226903	2412	7964											
DOCK11	139818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117700598	117700598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtttggaaaggagcatGcatccggaactgatgaaggt	14	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117700598G>T	ENST00000276202.7	+	9	996	c.933G>T	c.(931-933)atG>atT	p.M311I	Y_RNA_ENST00000384135.1_RNA|DOCK11_ENST00000276204.6_Missense_Mutation_p.M311I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	311					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						AAAGGAGCATGCATCCGGAAC	0.393																																					p.M311I		.											.	DOCK11-93	0			c.G933T						.						155	121	132					X																	117700598		2203	4300	6503	SO:0001583	missense	139818	exon9			GAGCATGCATCCG	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.933G>T	X.37:g.117700598G>T	ENSP00000276202:p.Met311Ile	Somatic	292	0		WXS	Illumina GAIIx	Phase_I	356	129	NM_144658	0	0	0	0	0	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	6.586	0.476406	0.12521	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17854	2.25;2.25	5.42	5.42	0.78866	.	0.158747	0.56097	D	0.000032	T	0.18841	0.0452	L	0.52573	1.65	0.43745	D	0.996244	B;B	0.29835	0.258;0.111	B;B	0.24541	0.054;0.026	T	0.01899	-1.1251	10	0.34782	T	0.22	-22.7877	17.8827	0.88845	0.0:0.0:1.0:0.0	.	311;311	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	311	ENSP00000276204:M311I;ENSP00000276202:M311I	ENSP00000276202:M311I	M	+	3	0	DOCK11	117584626	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.221000	0.58574	2.256000	0.74724	0.600000	0.82982	ATG	.		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117700598	G	T	117700598	3	4	31	1	0	0	0	0	1	0	0	0	4700	1319	46	3	967	3	DOCK11	23	117700598	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	656941	117700598	37569962	2413	7965											
ZCCHC12	170261	ucsc.edu;bcgsc.ca	37	chrX	117959692	117959692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccagaacgctattcaggCaggcattatagctgagaaag	11	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117959692C>A	ENST00000310164.2	+	4	992	c.485C>A	c.(484-486)gCa>gAa	p.A162E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	162					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						gctattcaggcaggcattata	0.488																																					p.A162E		.											.	ZCCHC12-131	0			c.C485A						.						102	102	102					X																	117959692		2203	4300	6503	SO:0001583	missense	170261	exon4			TTCAGGCAGGCAT	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.485C>A	X.37:g.117959692C>A	ENSP00000308921:p.Ala162Glu	Somatic	216	2		WXS	Illumina GAIIx	Phase_I	228	86	NM_173798	0	0	0	0	0	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787796	0.49997	.	.	ENSG00000174460	ENST00000310164	T	0.08984	3.03	3.09	3.09	0.35607	.	0.218068	0.23439	N	0.048164	T	0.25269	0.0614	M	0.79123	2.44	0.31931	N	0.612144	D	0.89917	1.0	D	0.87578	0.998	T	0.12451	-1.0547	10	0.54805	T	0.06	-4.4267	8.7855	0.34818	0.0:1.0:0.0:0.0	.	162	Q6PEW1	ZCH12_HUMAN	E	162	ENSP00000308921:A162E	ENSP00000308921:A162E	A	+	2	0	ZCCHC12	117843720	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.978000	0.49305	1.801000	0.52704	0.594000	0.82650	GCA	.		0.488	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		A	117959692	C	A	117959692	3	1	31	1	0	0	0	0	1	0	0	0	17629	710	25	3	487	3	ZCCHC12	23	117959692	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	259094	117959692	37310868	2414	7966											
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118215375	118215375	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacaggctcaattggctcaaCtgggttctggaacttggctg	13	9	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118215375C>G	ENST00000402510.2	-	14	5046	c.5047G>C	c.(5047-5049)Gtt>Ctt	p.V1683L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1683										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATTGGCTCAACTGGGTTCTGG	0.483																																					p.V1683L		.											.	KIAA1210-67	0			c.G5047C						.						159	147	151					X																	118215375		1901	4102	6003	SO:0001583	missense	57481	exon14			GCTCAACTGGGTT	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5047G>C	X.37:g.118215375C>G	ENSP00000384670:p.Val1683Leu	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	185	64	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.853711|1.853711	0.32791|0.32791	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.97|4.97	2.2|2.2	0.27929|0.27929	.|.	.|.	.|.	.|.	.|.	T|T	0.08268|0.08268	0.0206|0.0206	L|L	0.45228|0.45228	1.405|1.405	0.09310|0.09310	N|N	1|1	.|P	.|0.36535	.|0.557	.|B	.|0.33042	.|0.157	T|T	0.29150|0.29150	-1.0021|-1.0021	5|9	.|0.44086	.|T	.|0.13	.|.	3.9611|3.9611	0.09410|0.09410	0.0:0.5862:0.1952:0.2186|0.0:0.5862:0.1952:0.2186	.|.	.|1683	.|Q9ULL0	.|K1210_HUMAN	T|L	1089|1683	.|ENSP00000384670:V1683L	.|ENSP00000384670:V1683L	S|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118099403|118099403	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.228000|0.228000	0.17814|0.17814	0.562000|0.562000	0.29204|0.29204	0.594000|0.594000	0.82650|0.82650	AGT|GTT	.		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		G	118215375	C	G	118215375	3	3	31	1	0	0	0	0	1	0	0	0	8241	565	20	3	86	3	KIAA1210	23	118215375	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	255683	118215375	37055185	2415	7967											
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118221793	118221793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaatttgaggacagttGctggactttatttcccacag	9	9	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118221793G>T	ENST00000402510.2	-	11	3399	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1134										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGGACAGTTGCTGGACTTTA	0.473																																					p.Q1134K		.											.	KIAA1210-67	0			c.C3400A						.						93	87	89					X																	118221793		1873	4093	5966	SO:0001583	missense	57481	exon11			ACAGTTGCTGGAC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3400C>A	X.37:g.118221793G>T	ENSP00000384670:p.Gln1134Lys	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	142	34	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.934|5.934	0.356319|0.356319	0.11239|0.11239	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.08008	.|3.14	4.34|4.34	-1.27|-1.27	0.09347|0.09347	.|.	.|.	.|.	.|.	.|.	T|T	0.04998|0.04998	0.0134|0.0134	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.24576	.|0.106	.|B	.|0.27887	.|0.084	T|T	0.45145|0.45145	-0.9281|-0.9281	5|9	.|0.02654	.|T	.|1	.|.	7.8867|7.8867	0.29655|0.29655	0.0:0.1237:0.2769:0.5994|0.0:0.1237:0.2769:0.5994	.|.	.|1134	.|Q9ULL0	.|K1210_HUMAN	E|K	540|1134	.|ENSP00000384670:Q1134K	.|ENSP00000384670:Q1134K	A|Q	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118105821|118105821	0.721000|0.721000	0.28007|0.28007	0.001000|0.001000	0.08648|0.08648	0.145000|0.145000	0.21501|0.21501	0.400000|0.400000	0.20932|0.20932	-0.392000|-0.392000	0.07751|0.07751	0.600000|0.600000	0.82982|0.82982	GCA|CAA	.		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118221793	G	T	118221793	3	4	31	1	0	0	0	0	1	0	0	0	8241	1328	46	3	1745	3	KIAA1210	23	118221793	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6418	118221793	37048767	2416	7968											
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	118222705	118222705	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcatctgaggtccagctcctCctcagagctgctcaagtcct	9	15	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118222705C>A	ENST00000402510.2	-	11	2487	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	830										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCAGCTCCTCCTCAGAGCTG	0.463																																					p.E830X		.											.	KIAA1210-67	0			c.G2488T						.						39	37	38					X																	118222705		1865	4087	5952	SO:0001587	stop_gained	57481	exon11			GCTCCTCCTCAGA	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2488G>T	X.37:g.118222705C>A	ENSP00000384670:p.Glu830*	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	19	6	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Nonsense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762191|4.762191	0.89932|0.89932	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	.|.	.|.	.|.	4.46|4.46	-0.695|-0.695	0.11291|0.11291	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28995	.|0.0720	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34428	.|-0.9829	.|3	0.20046|.	T|.	0.44|.	.|.	4.0473|4.0473	0.09778|0.09778	0.0:0.3328:0.3335:0.3337|0.0:0.3328:0.3335:0.3337	.|.	.|.	.|.	.|.	X|V	830|236	.|.	ENSP00000384670:E830X|.	E|G	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118106733|118106733	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.186000|-0.186000	0.09670|0.09670	-0.293000|-0.293000	0.08986|0.08986	-0.208000|-0.208000	0.12717|0.12717	GAG|GGA	.		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118222705	C	A	118222705	4	1	31	1	0	0	0	0	0	1	0	0	8241	864	30	3	2657	3	KIAA1210	23	118222705	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	912	118222705	37047855	2417	7969											
PGRMC1	10857	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	118370647	118370647	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggccgcaaattctaCgggcccggtacgcggccggc	13	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118370647C>A	ENST00000217971.7	+	1	432	c.321C>A	c.(319-321)taC>taA	p.Y107*	PGRMC1_ENST00000535419.1_Nonsense_Mutation_p.Y107*	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	107	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GCAAATTCTACGGGCCCGGTA	0.716																																					p.Y107X		.											.	PGRMC1-130	0			c.C321A						.						8	8	8					X																	118370647		2151	4217	6368	SO:0001587	stop_gained	10857	exon1			ATTCTACGGGCCC		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.321C>A	X.37:g.118370647C>A	ENSP00000217971:p.Tyr107*	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	245	79	NM_006667	0	0	0	0	0	B7Z1L3|Q9UGJ9	Nonsense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	35	5.521847	0.96416	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	.	.	.	5.05	1.07	0.20283	.	0.128732	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8396	7.9619	0.30076	0.0:0.5013:0.0:0.4987	.	.	.	.	X	107	.	ENSP00000217971:Y107X	Y	+	3	2	PGRMC1	118254675	1.000000	0.71417	0.987000	0.45799	0.787000	0.44495	1.021000	0.30040	-0.242000	0.09667	-0.295000	0.09555	TAC	.		0.716	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		A	118370647	C	A	118370647	4	1	31	1	0	0	0	0	0	1	0	0	11845	547	19	2	323	2	PGRMC1	23	118370647	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	147942	118370647	36899913	2418	7970											
PGRMC1	10857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118374361	118374361	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagcactgaaggatgagtacGatgacctttctgacctcact	9	10	2	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118374361G>C	ENST00000217971.7	+	2	529	c.418G>C	c.(418-420)Gat>Cat	p.D140H	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	140	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GGATGAGTACGATGACCTTTC	0.483																																					p.D140H		.											.	PGRMC1-130	0			c.G418C						.						139	125	130					X																	118374361		2203	4300	6503	SO:0001583	missense	10857	exon2			GAGTACGATGACC		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.418G>C	X.37:g.118374361G>C	ENSP00000217971:p.Asp140His	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	151	43	NM_006667	0	0	0	0	0	B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.240589	0.79912	.	.	ENSG00000101856	ENST00000217971	T	0.78126	-1.15	4.98	4.98	0.66077	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90766	0.4668	10	0.54805	T	0.06	0.134	16.3327	0.83049	0.0:0.0:1.0:0.0	.	140	O00264	PGRC1_HUMAN	H	140	ENSP00000217971:D140H	ENSP00000217971:D140H	D	+	1	0	PGRMC1	118258389	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	9.468000	0.97676	2.054000	0.61138	0.509000	0.49947	GAT	.		0.483	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		C	118374361	G	C	118374361	3	2	31	1	0	0	0	0	1	0	0	0	11845	1058	37	2	424	2	PGRMC1	23	118374361	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3714	118374361	36896199	2419	7971											
NKRF	55922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118723944	118723944	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacttcactctctagaatcaCtttgcatttccagcggaggc	7	12	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118723944C>G	ENST00000371527.1	-	2	2096	c.1444G>C	c.(1444-1446)Gtg>Ctg	p.V482L	NKRF_ENST00000304449.5_Missense_Mutation_p.V482L|NKRF_ENST00000542113.1_Missense_Mutation_p.V497L|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTAGAATCACTTTGCATTTC	0.453																																					p.V497L		.											.	NKRF-131	0			c.G1489C						.						101	101	101					X																	118723944		2203	4300	6503	SO:0001583	missense	55922	exon4			GAATCACTTTGCA	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1444G>C	X.37:g.118723944C>G	ENSP00000360582:p.Val482Leu	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	54	22	NM_001173487	0	0	0	0	0	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154378	0.57259	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.82803	-1.65;-1.65;-1.65	5.6	5.6	0.85130	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.75615	2.305	0.80722	D	1	B	0.28605	0.217	B	0.37198	0.243	D	0.84890	0.0836	10	0.54805	T	0.06	-12.7448	17.4857	0.87687	0.0:1.0:0.0:0.0	.	482	O15226	NKRF_HUMAN	L	482;482;497	ENSP00000360582:V482L;ENSP00000304803:V482L;ENSP00000442308:V497L	ENSP00000304803:V482L	V	-	1	0	NKRF	118607972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.451000	0.80668	2.343000	0.79666	0.600000	0.82982	GTG	.		0.453	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		G	118723944	C	G	118723944	3	3	31	1	0	0	0	0	1	0	0	0	10486	565	20	3	632	3	NKRF	23	118723944	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	349583	118723944	36546616	2420	7972											
NKRF	55922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	118723961	118723962	+	Missense_Mutation	DNP	AG	AG	TT													tcactttgcatttccagcggAggcctgtcatcctttcatag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118723961_118723962AG>TT	ENST00000371527.1	-	2	2078_2079	c.1426_1427CT>AA	c.(1426-1428)CTc>AAc	p.L476N	NKRF_ENST00000304449.5_Missense_Mutation_p.L476N|NKRF_ENST00000542113.1_Missense_Mutation_p.L491N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	476					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTTCCAGCGGAGGCCTGTCATC	0.436																																					p.L491N		.											.	NKRF-131	0			c.C1471A						.																																			SO:0001583	missense	55922	exon4			AGCGGAGGCCTGT	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1426_1427delinsTT	X.37:g.118723961_118723962delinsTT	ENSP00000360582:p.Leu476Asn	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_001173487	0	0	0	0	0	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	DNP	ENST00000371527.1	37	CCDS35375.1																																																																																			.		0.436	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		TT	118723962	AG	TT	118723961	3	4	31	1	0	0	0	0	1	0	0	0	10486	304	11	5	649	5	NKRF	23	118723961	Missense_Mutation	DNP	AG	TCGA-OR-A5KB-01A-11D-A30A-10	17	118723961	36546599	2421	7973											
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	118763333	118763333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcctccagcctgggagcCctgggactggagcagctcag	15	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118763333C>T	ENST00000343984.5	-	9	1492	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	SEPT6_ENST00000354228.4_Missense_Mutation_p.G410S|SEPT6_ENST00000360156.7_Missense_Mutation_p.G410S|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Missense_Mutation_p.G410S|SEPT6_ENST00000394617.2_Missense_Mutation_p.G440S|SEPT6_ENST00000489216.1_Missense_Mutation_p.G410S|SEPT6_ENST00000394610.1_Missense_Mutation_p.G410S|SEPT6_ENST00000394616.4_Missense_Mutation_p.G352S	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	410					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCCTGGGAGCCCTGGGACTGG	0.517			T	MLL	AML																																p.G410S		.		Dom	yes		X	Xq24	23157	septin 6		L	.	SEPT6-969	0			c.G1228A						.						123	122	122					X																	118763333		2203	4300	6503	SO:0001583	missense	23157	exon9			GGGAGCCCTGGGA	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1228G>A	X.37:g.118763333C>T	ENSP00000341524:p.Gly410Ser	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	106	17	NM_145802	0	0	0	0	0	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267545	0.23136	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.48836	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.8	5.32	5.32	0.75619	.	0.274639	0.40222	N	0.001152	T	0.24586	0.0596	N	0.03115	-0.41	0.33433	D	0.581414	B;B;B;B	0.32040	0.353;0.002;0.111;0.0	B;B;B;B	0.32211	0.142;0.005;0.041;0.001	T	0.23833	-1.0177	10	0.06891	T	0.86	.	16.9197	0.86161	0.0:1.0:0.0:0.0	.	440;352;410;410	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	S	410;410;410;410;410;410;352;440	ENSP00000353278:G410S;ENSP00000346169:G410S;ENSP00000418715:G410S;ENSP00000346397:G410S;ENSP00000378108:G410S;ENSP00000341524:G410S;ENSP00000378114:G352S;ENSP00000378115:G440S	ENSP00000341524:G410S	G	-	1	0	SEPT6	118647361	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.466000	0.60148	2.201000	0.70794	0.600000	0.82982	GGC	.		0.517	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		T	118763333	C	T	118763333	3	4	31	1	0	0	0	0	1	0	0	0	14113	623	22	3	106	3	SEPT6	23	118763333	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	39372	118763333	36507227	2422	7974											
AKAP14	158798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	119048832	119048832	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatgaaggtctccaaaacCaaaccaccggtaagttcttc	6	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:119048832C>A	ENST00000371431.3	+	5	706	c.432C>A	c.(430-432)acC>acA	p.T144T	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000334356.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	144					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						TCTCCAAAACCAAACCACCGG	0.438																																					p.T144T		.											.	AKAP14-226	0			c.C432A						.						179	141	154					X																	119048832		2203	4300	6503	SO:0001819	synonymous_variant	158798	exon5			CAAAACCAAACCA	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"A-kinase anchor proteins"	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.432C>A	X.37:g.119048832C>A		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	134	36	NM_178813	0	0	0	0	0	A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	ENST00000371431.3	37	CCDS14591.1																																																																																			.		0.438	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		A	119048832	C	A	119048832	2	1	31	1	0	0	0	0	0	0	0	1	450	581	21	3		3	AKAP14	23	119048832	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	285499	119048832	36221728	2423	7975											
CT47B1	643311	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	120009189	120009189	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgccgggtaccgacgGgtggccaccgccaagtcgaa	14	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:120009189G>C	ENST00000371311.3	-	1	590	c.336C>G	c.(334-336)acC>acG	p.T112T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	112										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGTACCGACGGGTGGCCACCG	0.647																																					p.T112T		.											.	.	0			c.C336G						.						47	63	58					X																	120009189		692	1590	2282	SO:0001819	synonymous_variant	643311	exon1			CCGACGGGTGGCC		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.336C>G	X.37:g.120009189G>C		Somatic	416	1		WXS	Illumina GAIIx	Phase_I	638	230	NM_001145718	0	0	0	0	0	A6NM97	Silent	SNP	ENST00000371311.3	37	CCDS48161.1																																																																																			.		0.647	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		C	120009189	G	C	120009189	2	2	31	1	0	0	0	0	0	0	0	1	3998	1219	43	3		3	CT47B1	23	120009189	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	960357	120009189	35261371	2424	7976											
GRIA3	2892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	122532571	122532571	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgagtagatgtgtccCggagaggaagtgctggagac	18	7	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122532571C>A	ENST00000371251.1	+	7	1049	c.997C>A	c.(997-999)Cgg>Agg	p.R333R	GRIA3_ENST00000371256.5_Silent_p.R333R|GRIA3_ENST00000542149.1_Silent_p.R333R|GRIA3_ENST00000264357.5_Silent_p.R333R|GRIA3_ENST00000541091.1_Silent_p.R317R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	333					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGATGTGTCCCGGAGAGGAAG	0.488																																					p.R333R		.											.	GRIA3-134	0			c.C997A						.						111	86	94					X																	122532571		2203	4300	6503	SO:0001819	synonymous_variant	2892	exon7			GTGTCCCGGAGAG	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.997C>A	X.37:g.122532571C>A		Somatic	202	0		WXS	Illumina GAIIx	Phase_I	218	64	NM_000828	0	0	0	0	0	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																			.		0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122532571	C	A	122532571	2	1	31	1	0	0	0	0	0	0	0	1	6796	643	23	2		2	GRIA3	23	122532571	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2523382	122532571	32737989	2425	7977											
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	122747368	122747368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttctcatttggataaggaGattcacaaggactttcactt	7	8	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122747368G>A	ENST00000245838.8	-	36	4590	c.4559C>T	c.(4558-4560)tCt>tTt	p.S1520F	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.S1405F|THOC2_ENST00000355725.4_Missense_Mutation_p.S1520F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1520	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGATAAGGAGATTCACAAGG	0.313																																					p.S1520F		.											.	THOC2-133	0			c.C4559T						.						103	88	93					X																	122747368		1801	4051	5852	SO:0001583	missense	57187	exon36			TAAGGAGATTCAC	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4559C>T	X.37:g.122747368G>A	ENSP00000245838:p.Ser1520Phe	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	27	15	NM_001081550	0	0	0	0	0	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215940|3.215940	0.58452|0.58452	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.72407|0.72407	0.3456|0.3456	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	T|T	0.74463|0.74463	-0.3657|-0.3657	5|9	.|0.62326	.|D	.|0.03	-10.1665|-10.1665	18.891|18.891	0.92403|0.92403	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1520	.|Q8NI27	.|THOC2_HUMAN	F|F	116;315|1520;13;1520;109;1405	.|.	.|ENSP00000245838:S1520F	L|S	-|-	1|2	0|0	THOC2|THOC2	122575049|122575049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.011000|8.011000	0.88624|0.88624	2.409000|2.409000	0.81822|0.81822	0.544000|0.544000	0.68410|0.68410	CTC|TCT	.		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122747368	G	A	122747368	3	1	31	1	0	0	0	0	1	0	0	0	15912	942	33	3	234	3	THOC2	23	122747368	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	214797	122747368	32523192	2426	7978											
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	122755031	122755031	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcaggctctggaatatctGatctgggaacaggtgatttc	11	7	4	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122755031G>C	ENST00000245838.8	-	31	4224	c.4193C>G	c.(4192-4194)tCa>tGa	p.S1398*	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Nonsense_Mutation_p.S1283*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.S1398*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1398	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGAATATCTGATCTGGGAAC	0.358																																					p.S1398X		.											.	THOC2-133	0			c.C4193G						.						110	103	105					X																	122755031		1828	4068	5896	SO:0001587	stop_gained	57187	exon31			ATATCTGATCTGG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4193C>G	X.37:g.122755031G>C	ENSP00000245838:p.Ser1398*	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	69	16	NM_001081550	0	0	0	0	0	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Nonsense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.025796|10.025796	0.99320|0.99320	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000441692|ENST00000245838;ENST00000355725;ENST00000491737	.|.	.|.	.|.	5.47|5.47	4.6|4.6	0.57074|0.57074	.|.	.|0.260506	.|0.27725	.|N	.|0.018115	T|.	0.63885|.	0.2549|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.70299|.	-0.4910|.	3|.	.|.	.|.	.|.	-0.3958|-0.3958	13.4178|13.4178	0.60979|0.60979	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|.	.|.	.|.	E|X	166|1398;1398;1283	.|.	.|.	Q|S	-|-	1|2	0|0	THOC2|THOC2	122582712|122582712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.501000|7.501000	0.81600|0.81600	1.090000|1.090000	0.41315|0.41315	0.600000|0.600000	0.82982|0.82982	CAG|TCA	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122755031	G	C	122755031	4	2	31	1	0	0	0	0	0	1	0	0	15912	1294	45	3	620	3	THOC2	23	122755031	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	7663	122755031	32515529	2427	7979											
ODZ1	10178	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123657285	123657285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcggtgaaggaagcaCaatagggtttgggctgataa	16	4	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123657285C>A	ENST00000371130.3	-	17	3025	c.2962G>T	c.(2962-2964)Gtg>Ttg	p.V988L	TENM1_ENST00000422452.2_Missense_Mutation_p.V988L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	988					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)										GAAGGAAGCACAATAGGGTTT	0.458																																					p.V988L		.											.	.	0			c.G2962T						.						167	148	155					X																	123657285		2203	4300	6503	SO:0001583	missense	10178	exon17			GAAGCACAATAGG	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.2962G>T	X.37:g.123657285C>A	ENSP00000360171:p.Val988Leu	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	192	70	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155320	0.94686	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86432	-2.12;-2.09	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	L	0.50333	1.59	0.80722	D	1	D;D;P	0.76494	0.994;0.999;0.714	D;D;B	0.76071	0.97;0.987;0.289	D	0.88768	0.3262	10	0.22706	T	0.39	.	18.79	0.91969	0.0:1.0:0.0:0.0	.	987;988;988	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	988	ENSP00000360171:V988L;ENSP00000403954:V988L	ENSP00000360171:V988L	V	-	1	0	ODZ1	123484966	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	5.850000	0.69473	2.384000	0.81235	0.600000	0.82982	GTG	.		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123657285	C	A	123657285	3	1	31	1	0	0	0	0	1	0	0	0	10873	478	17	3	5300	3	ODZ1	23	123657285	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	902254	123657285	31613275	2428	7980											
ODZ1	10178	ucsc.edu;bcgsc.ca	37	chrX	123663787	123663787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacattcactcccactagagGagttccatctatggccacca	7	14	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123663787G>T	ENST00000371130.3	-	16	2761	c.2698C>A	c.(2698-2700)Cct>Act	p.P900T	TENM1_ENST00000422452.2_Missense_Mutation_p.P900T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	900					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)										CCCACTAGAGGAGTTCCATCT	0.463																																					p.P900T		.											.	.	0			c.C2698A						.						128	98	108					X																	123663787		2203	4300	6503	SO:0001583	missense	10178	exon16			CTAGAGGAGTTCC	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.2698C>A	X.37:g.123663787G>T	ENSP00000360171:p.Pro900Thr	Somatic	224	2		WXS	Illumina GAIIx	Phase_I	319	108	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832250	0.91036	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.31510	1.49;1.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.982	T	0.65459	-0.6163	10	0.62326	D	0.03	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	899;900;900	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	900	ENSP00000360171:P900T;ENSP00000403954:P900T	ENSP00000360171:P900T	P	-	1	0	ODZ1	123491468	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.734000	0.74801	2.502000	0.84385	0.594000	0.82650	CCT	.		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123663787	G	T	123663787	3	4	31	1	0	0	0	0	1	0	0	0	10873	1174	41	3	5568	3	ODZ1	23	123663787	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	6502	123663787	31606773	2429	7981											
ODZ1	10178	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	123680874	123680874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggatctggtgagccctggCagagaggacttatataacag	14	7	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123680874C>A	ENST00000371130.3	-	15	2564	c.2501G>T	c.(2500-2502)tGc>tTc	p.C834F	TENM1_ENST00000422452.2_Missense_Mutation_p.C834F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	834					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)										TGAGCCCTGGCAGAGAGGACT	0.398																																					p.C834F		.											.	.	0			c.G2501T						.						121	105	110					X																	123680874		2203	4300	6503	SO:0001583	missense	10178	exon15			CCCTGGCAGAGAG	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.2501G>T	X.37:g.123680874C>A	ENSP00000360171:p.Cys834Phe	Somatic	216	1		WXS	Illumina GAIIx	Phase_I	206	76	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038622	0.75617	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.16457	2.34;2.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.991;0.997;0.999	T	0.58070	-0.7701	10	0.87932	D	0	.	18.0242	0.89263	0.0:1.0:0.0:0.0	.	833;834;834	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	834	ENSP00000360171:C834F;ENSP00000403954:C834F	ENSP00000360171:C834F	C	-	2	0	ODZ1	123508555	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.560000	0.67332	2.448000	0.82819	0.594000	0.82650	TGC	.		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123680874	C	A	123680874	3	1	31	1	0	0	0	0	1	0	0	0	10873	710	25	3	5769	3	ODZ1	23	123680874	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	17087	123680874	31589686	2430	7982											
ODZ1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123870853	123870853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggacccagctgttatgcaGatggactgaatcctgcgtgc	12	11	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123870853G>A	ENST00000371130.3	-	4	793	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	TENM1_ENST00000422452.2_Silent_p.L244L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	244	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)										CTGTTATGCAGATGGACTGAA	0.532																																					p.L244L		.											.	.	0			c.C730T						.						179	162	167					X																	123870853		2203	4300	6503	SO:0001819	synonymous_variant	10178	exon4			TATGCAGATGGAC	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.730C>T	X.37:g.123870853G>A		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	97	31	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																			.		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123870853	G	A	123870853	2	1	31	1	0	0	0	0	0	0	0	1	10873	933	33	3		3	ODZ1	23	123870853	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	189979	123870853	31399707	2431	7983											
DCAF12L2	340578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	125299535	125299535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgtggcctgactgcaCgtccaccacaaacagcgtat	10	13	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:125299535C>A	ENST00000360028.2	-	1	399	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.V125L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	125								p.V125L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGACTGCACGTCCACCACA	0.642																																					p.V125L		.											.	DCAF12L2-113	2	Substitution - Missense(2)	lung(2)	c.G373T						.						89	79	82					X																	125299535		2203	4300	6503	SO:0001583	missense	340578	exon1			ACTGCACGTCCAC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.373G>T	X.37:g.125299535C>A	ENSP00000353128:p.Val125Leu	Somatic	319	0		WXS	Illumina GAIIx	Phase_I	452	154	NM_001013628	0	0	0	0	0	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.589802	0.28357	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.55930	0.49;0.49	3.8	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.63307	0.2500	M	0.63428	1.95	0.34822	D	0.738826	D	0.69078	0.997	D	0.76575	0.988	T	0.67677	-0.5609	9	0.38643	T	0.18	.	6.224	0.20698	0.0:0.8606:0.0:0.1394	.	125	Q5VW00	DC122_HUMAN	L	125	ENSP00000441489:V125L;ENSP00000353128:V125L	ENSP00000353128:V125L	V	-	1	0	DCAF12L2	125127216	1.000000	0.71417	0.034000	0.17996	0.011000	0.07611	4.466000	0.60148	0.952000	0.37798	0.540000	0.68198	GTG	.		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299535	C	A	125299535	3	1	31	1	0	0	0	0	1	0	0	0	4274	536	19	2	1022	2	DCAF12L2	23	125299535	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1428682	125299535	29971025	2432	7984											
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	125686226	125686226	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgactccacgtccacCacgaaaagcgtgttacactt	8	14	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:125686226C>G	ENST00000371126.1	-	1	608	c.366G>C	c.(364-366)gtG>gtC	p.V122V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	122										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACGTCCACCACGAAAAGCG	0.632																																					p.V122V		.											.	DCAF12L1-132	0			c.G366C						.						122	92	102					X																	125686226		2203	4300	6503	SO:0001819	synonymous_variant	139170	exon1			GTCCACCACGAAA	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.366G>C	X.37:g.125686226C>G		Somatic	431	1		WXS	Illumina GAIIx	Phase_I	629	200	NM_178470	0	0	0	0	0	Q8IYK3	Silent	SNP	ENST00000371126.1	37	CCDS14610.1																																																																																			.		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		G	125686226	C	G	125686226	2	3	31	1	0	0	0	0	0	0	0	1	4273	581	21	3		3	DCAF12L1	23	125686226	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	386691	125686226	29584334	2433	7985											
ACTRT1	139741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	127185766	127185766	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatagagcgctgccaccgcAtgattagacaggtagaaacc	11	11	0	4			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:127185766A>T	ENST00000371124.3	-	1	616	c.420T>A	c.(418-420)caT>caA	p.H140Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	140						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGCCACCGCATGATTAGACA	0.517																																					p.H140Q		.											.	ACTRT1-133	0			c.T420A						.						197	181	186					X																	127185766		2203	4300	6503	SO:0001583	missense	139741	exon1			CACCGCATGATTA	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.420T>A	X.37:g.127185766A>T	ENSP00000360165:p.His140Gln	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	219	68	NM_138289	0	0	0	0	0	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.082010	0.01888	.	.	ENSG00000123165	ENST00000371124	D	0.96365	-3.99	3.75	-1.94	0.07571	.	0.199003	0.33650	N	0.004683	T	0.74114	0.3674	N	0.00029	-2.615	0.29177	N	0.876732	B	0.11235	0.004	B	0.10450	0.005	T	0.76702	-0.2862	10	0.87932	D	0	.	3.3356	0.07100	0.3107:0.0:0.3312:0.3581	.	140	Q8TDG2	ACTT1_HUMAN	Q	140	ENSP00000360165:H140Q	ENSP00000360165:H140Q	H	-	3	2	ACTRT1	127013447	0.956000	0.32656	0.035000	0.18076	0.096000	0.18686	0.063000	0.14410	-0.477000	0.06832	0.437000	0.28790	CAT	.		0.517	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		T	127185766	A	T	127185766	3	4	31	1	0	0	0	0	1	0	0	0	218	214	8	5	714	5	ACTRT1	23	127185766	Missense_Mutation	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	1499540	127185766	28084794	2434	7986											
ACTRT1	139741	ucsc.edu;bcgsc.ca	37	chrX	127186027	127186027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttgccccacgaagtacttCtgattaagtcttgctaaagg	8	10	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:127186027C>T	ENST00000371124.3	-	1	355	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q53Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGAAGTACTTCTGATTAAGTC	0.498																																					p.Q53Q		.											.	ACTRT1-133	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A						.						96	87	90					X																	127186027		2203	4300	6503	SO:0001819	synonymous_variant	139741	exon1			GTACTTCTGATTA	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.159G>A	X.37:g.127186027C>T		Somatic	276	3		WXS	Illumina GAIIx	Phase_I	293	95	NM_138289	0	0	0	0	0	Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	CCDS14611.1																																																																																			.		0.498	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		T	127186027	C	T	127186027	2	4	31	1	0	0	0	0	0	0	0	1	218	912	32	3		3	ACTRT1	23	127186027	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	261	127186027	28084533	2435	7987											
SMARCA1	6594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128649928	128649928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttccgactctcagacaGtagctcttcatcttcttctt	5	12	6	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128649928G>T	ENST00000371122.4	-	4	601	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.L158M|SMARCA1_ENST00000371123.1_Missense_Mutation_p.L158M	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	158					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCTCAGACAGTAGCTCTTCA	0.368																																					p.L158M		.											.	SMARCA1-230	0			c.C472A						.						175	141	153					X																	128649928		2203	4300	6503	SO:0001583	missense	6594	exon4			CAGACAGTAGCTC	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.472C>A	X.37:g.128649928G>T	ENSP00000360163:p.Leu158Met	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	151	63	NM_139035	0	0	0	0	0	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647594	0.29246	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92495	-3.05;-3.05;-3.04;-3.02	5.16	3.11	0.35812	.	0.000000	0.52532	D	0.000074	D	0.87799	0.6268	L	0.51422	1.61	0.41028	D	0.985137	P;P;P;P	0.39903	0.568;0.568;0.694;0.568	B;B;B;B	0.40410	0.126;0.175;0.328;0.175	D	0.84388	0.0553	10	0.45353	T	0.12	-6.8952	5.8772	0.18836	0.4599:0.0:0.5401:0.0	.	137;158;158;158	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	M	158;158;158;137	ENSP00000360162:L158M;ENSP00000360164:L158M;ENSP00000360163:L158M;ENSP00000404275:L137M	ENSP00000360162:L158M	L	-	1	2	SMARCA1	128477609	0.999000	0.42202	0.027000	0.17364	0.905000	0.53344	2.938000	0.48987	0.954000	0.37851	-0.268000	0.10319	CTG	.		0.368	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		T	128649928	G	T	128649928	3	4	31	1	0	0	0	0	1	0	0	0	14813	1020	36	3	2776	3	SMARCA1	23	128649928	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1463901	128649928	26620632	2436	7988											
XPNPEP2	7512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128888456	128888456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactccaggtgcgggaCgctgtggctgtgatccggta	14	13	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128888456C>T	ENST00000371106.3	+	12	1308	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	372						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						AGGTGCGGGACGCTGTGGCTG	0.592																																					p.D372D		.											.	XPNPEP2-130	0			c.C1116T						.						45	31	36					X																	128888456		2197	4294	6491	SO:0001819	synonymous_variant	7512	exon12			GCGGGACGCTGTG	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.1116C>T	X.37:g.128888456C>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	131	38	NM_003399	0	0	0	0	0	A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																			.		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		T	128888456	C	T	128888456	2	4	31	1	0	0	0	0	0	0	0	1	17492	535	19	1		1	XPNPEP2	23	128888456	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	238528	128888456	26382104	2437	7989											
ZDHHC9	51114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128940383	128940383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcctgtggtggctctGggggctctggaggtggcatc	17	11	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128940383G>T	ENST00000357166.6	-	11	1449	c.1058C>A	c.(1057-1059)cCa>cAa	p.P353Q	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P353Q	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	353					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGGTGGCTCTGGGGGCTCTGG	0.502																																					p.P353Q		.											.	ZDHHC9-131	0			c.C1058A						.						110	104	106					X																	128940383		2203	4300	6503	SO:0001583	missense	51114	exon10			GGCTCTGGGGGCT	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.1058C>A	X.37:g.128940383G>T	ENSP00000349689:p.Pro353Gln	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	96	29	NM_001008222	0	0	0	0	0	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738807	0.30774	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.40476	1.03;1.03	5.48	5.48	0.80851	.	0.280266	0.39615	N	0.001308	T	0.49474	0.1559	L	0.29908	0.895	0.38104	D	0.937366	D	0.64830	0.994	D	0.76071	0.987	T	0.42068	-0.9473	10	0.12766	T	0.61	-2.2279	14.9853	0.71342	0.0:0.0:1.0:0.0	.	353	Q9Y397	ZDHC9_HUMAN	Q	353	ENSP00000349689:P353Q;ENSP00000360103:P353Q	ENSP00000349689:P353Q	P	-	2	0	ZDHHC9	128768064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.270000	0.65547	2.289000	0.77006	0.544000	0.68410	CCA	.		0.502	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128940383	G	T	128940383	3	4	31	1	0	0	0	0	1	0	0	0	17670	1348	47	3	40	3	ZDHHC9	23	128940383	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	51927	128940383	26330177	2438	7990											
UTP14A	10813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129053172	129053172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagaactcccctggagcagGaaattttcaacctcctccat	6	14	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129053172G>A	ENST00000394422.3	+	7	587	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	UTP14A_ENST00000371042.3_Missense_Mutation_p.E19K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E135K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E133K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	187					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTGGAGCAGGAAATTTTCAA	0.458																																					p.E187K		.											.	UTP14A-132	0			c.G559A						.						107	102	104					X																	129053172		2203	4300	6503	SO:0001583	missense	10813	exon7			GAGCAGGAAATTT	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.559G>A	X.37:g.129053172G>A	ENSP00000377944:p.Glu187Lys	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	173	33	NM_006649	0	0	0	0	0	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143025	0.94560	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.972;1.0	D;D;D	0.91635	0.998;0.958;0.999	T	0.02603	-1.1135	10	0.16420	T	0.52	-24.201	19.4993	0.95086	0.0:0.0:1.0:0.0	.	133;135;187	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	135;187;133;19;19	ENSP00000388669:E135K;ENSP00000377944:E187K;ENSP00000360090:E133K;ENSP00000413187:E19K;ENSP00000360081:E19K	ENSP00000360081:E19K	E	+	1	0	UTP14A	128880853	1.000000	0.71417	0.369000	0.25952	0.873000	0.50193	7.528000	0.81941	2.559000	0.86315	0.597000	0.82753	GAA	.		0.458	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		A	129053172	G	A	129053172	3	1	31	1	0	0	0	0	1	0	0	0	17144	1175	41	3	585	3	UTP14A	23	129053172	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	112789	129053172	26217388	2439	7991											
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	129147234	129147235	+	Missense_Mutation	DNP	GG	GG	TT													cccgccggagtaaaggctttGgactctcggcaaggtgttgg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129147234_129147235GG>TT	ENST00000218147.7	+	4	683_684	c.486_487GG>TT	c.(484-489)ttGGac>ttTTac	p.162_163LD>FY	BCORL1_ENST00000303743.5_Missense_Mutation_p.162_163LD>FY|BCORL1_ENST00000359304.2_Missense_Mutation_p.162_163LD>FY|BCORL1_ENST00000540052.1_Missense_Mutation_p.162_163LD>FY			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	162					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TAAAGGCTTTGGACTCTCGGCA	0.564																																					p.LD162FY		.											.	BCORL1-294	0			c.G487T						.																																			SO:0001583	missense	63035	exon3			GCTTTGGACTCTC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	Exception_encountered	X.37:g.129147234_129147235delinsTT	ENSP00000218147:p.L162_D163delinsFY	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	237	10	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	DNP	ENST00000218147.7	37	CCDS14616.1																																																																																			.		0.564	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		TT	129147235	GG	TT	129147234	3	4	31	1	0	0	0	0	1	0	0	0	1388	1339	47	3	496	3	BCORL1	23	129147234	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	94062	129147234	26123326	2440	7992											
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129148844	129148844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtgaggaatggggaccCgagcacctgggtgaagaact	16	8	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129148844C>A	ENST00000218147.7	+	4	2293	c.2096C>A	c.(2095-2097)cCg>cAg	p.P699Q	BCORL1_ENST00000303743.5_Missense_Mutation_p.P699Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.P699Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.P699Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	699					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AATGGGGACCCGAGCACCTGG	0.597																																					p.P699Q		.											.	BCORL1-294	0			c.C2096A						.						81	65	71					X																	129148844		2203	4300	6503	SO:0001583	missense	63035	exon3			GGGACCCGAGCAC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2096C>A	X.37:g.129148844C>A	ENSP00000218147:p.Pro699Gln	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	229	76	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	8.367	0.834491	0.16820	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.54071	0.63;0.97;0.59;0.63;1.06	5.28	5.28	0.74379	.	0.000000	0.36374	N	0.002633	T	0.50394	0.1613	N	0.08118	0	0.31757	N	0.633898	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.579	T	0.55296	-0.8163	10	0.23891	T	0.37	-11.1533	12.7159	0.57115	0.2181:0.7819:0.0:0.0	.	699;699	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Q	699;699;699;699;299	ENSP00000218147:P699Q;ENSP00000307541:P699Q;ENSP00000352253:P699Q;ENSP00000437775:P699Q;ENSP00000399483:P299Q	ENSP00000218147:P699Q	P	+	2	0	BCORL1	128976525	0.981000	0.34729	0.376000	0.26042	0.238000	0.25445	2.607000	0.46300	2.205000	0.71048	0.436000	0.28706	CCG	.		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129148844	C	A	129148844	3	1	31	1	0	0	0	0	1	0	0	0	1388	652	23	2	2106	2	BCORL1	23	129148844	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1610	129148844	26121716	2441	7993											
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129154972	129154972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagtgccggaagctgCccagtgacccccaggaatcc	10	17	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129154972C>A	ENST00000218147.7	+	5	3651	c.3454C>A	c.(3454-3456)Ccc>Acc	p.P1152T	BCORL1_ENST00000303743.5_Missense_Mutation_p.P1152T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P1152T|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1152T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1152					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGAAGCTGCCCAGTGACCC	0.557																																					p.P1152T		.											.	BCORL1-294	0			c.C3454A						.						28	32	31					X																	129154972		2203	4300	6503	SO:0001583	missense	63035	exon4			AAGCTGCCCAGTG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3454C>A	X.37:g.129154972C>A	ENSP00000218147:p.Pro1152Thr	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	174	66	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.929|8.929	0.962947|0.962947	0.18583|0.18583	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.43688	.|0.99;1.35;0.94;0.99;1.43	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.36374	.|N	.|0.002626	T|T	0.29620|0.29620	0.0739|0.0739	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;B	.|0.42248	.|0.774;0.146	.|B;B	.|0.39805	.|0.31;0.038	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.13470	.|T	.|0.59	-3.7679|-3.7679	13.2708|13.2708	0.60159|0.60159	0.0:0.9249:0.0:0.0751|0.0:0.9249:0.0:0.0751	.|.	.|1152;1152	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|T	587|1152;1152;1152;1152;752	.|ENSP00000218147:P1152T;ENSP00000307541:P1152T;ENSP00000352253:P1152T;ENSP00000437775:P1152T;ENSP00000399483:P752T	.|ENSP00000218147:P1152T	A|P	+|+	2|1	0|0	BCORL1|BCORL1	128982653|128982653	0.245000|0.245000	0.23899|0.23899	0.030000|0.030000	0.17652|0.17652	0.110000|0.110000	0.19582|0.19582	1.625000|1.625000	0.37029|0.37029	1.333000|1.333000	0.45449|0.45449	0.600000|0.600000	0.82982|0.82982	GCC|CCC	.		0.557	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129154972	C	A	129154972	3	1	31	1	0	0	0	0	1	0	0	0	1388	739	26	3	3468	3	BCORL1	23	129154972	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	6128	129154972	26115588	2442	7994											
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129173157	129173157	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaacctggagaccatctgGctcctgctgtcctatggggc	12	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129173157G>T	ENST00000218147.7	+	10	4715	c.4518G>T	c.(4516-4518)tgG>tgT	p.W1506C	BCORL1_ENST00000303743.5_Missense_Mutation_p.W1580C|BCORL1_ENST00000359304.2_Missense_Mutation_p.W1376C|BCORL1_ENST00000540052.1_Missense_Mutation_p.W1506C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1506					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGACCATCTGGCTCCTGCTGT	0.582																																					p.W1506C		.											.	BCORL1-294	0			c.G4518T						.						137	90	106					X																	129173157		2203	4300	6503	SO:0001583	missense	63035	exon9			CATCTGGCTCCTG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4518G>T	X.37:g.129173157G>T	ENSP00000218147:p.Trp1506Cys	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	148	41	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104688	0.77096	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.70399	-0.08;-0.48;-0.48;-0.08;-0.48	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.70971	0.3285	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	T	0.75213	-0.3397	9	0.36615	T	0.2	-6.7478	17.9385	0.89020	0.0:0.0:1.0:0.0	.	1580;1506	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	C	1506;1580;1376;1506;1180	ENSP00000218147:W1506C;ENSP00000307541:W1580C;ENSP00000352253:W1376C;ENSP00000437775:W1506C;ENSP00000399483:W1180C	ENSP00000218147:W1506C	W	+	3	0	BCORL1	129000838	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.584000	0.60971	2.169000	0.68431	0.529000	0.55759	TGG	.		0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129173157	G	T	129173157	3	4	31	1	0	0	0	0	1	0	0	0	1388	1212	42	3	4778	3	BCORL1	23	129173157	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	18185	129173157	26097403	2443	7995											
AIFM1	9131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129289211	129289211	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatctttcccagaagcacCtgtagatgctagtgatctag	9	11	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129289211C>A	ENST00000287295.3	-	2	480				AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.G53C|AIFM1_ENST00000535724.1_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCAGAAGCACCTGTAGATGCT	0.423																																					p.G53C		.											.	AIFM1-586	0			c.G157T						.						158	147	151					X																	129289211		2203	4300	6503	SO:0001627	intron_variant	9131	exon2			AAGCACCTGTAGA	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.249+1223G>T	X.37:g.129289211C>A		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	227	82	NM_145812	0	0	0	0	0	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390945	0.62066	.	.	ENSG00000156709	ENST00000319908	T	0.49139	0.79	4.4	4.4	0.53042	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	T	0.70432	-0.4873	8	0.87932	D	0	.	14.8057	0.69952	0.0:1.0:0.0:0.0	.	53	O95831-3	.	C	53	ENSP00000315122:G53C	ENSP00000315122:G53C	G	-	1	0	AIFM1	129116892	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.456000	0.60081	2.191000	0.70037	0.513000	0.50165	GGT	.		0.423	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129289211	C	A	129289211	1	1	31	0	1	0	0	0	0	0	0	0	426	681	24	3		3	AIFM1	23	129289211	Intron	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	116054	129289211	25981349	2444	7996											
ENOX2	10495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129843245	129843245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatttcgtagacccacagCcatctaaaatctctttgcat	4	13	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129843245C>A	ENST00000370927.1	-	1	42	c.21G>T	c.(19-21)tgG>tgT	p.W7C	ENOX2_ENST00000338144.3_Missense_Mutation_p.W7C|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000394363.1_Intron			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	7					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGACCCACAGCCATCTAAAAT	0.433																																					p.W7C	Ovarian(101;828 1506 2951 9500 35258)	.											.	ENOX2-131	0			c.G21T						.						191	146	161					X																	129843245		2203	4300	6503	SO:0001583	missense	10495	exon4			CCACAGCCATCTA	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.21G>T	X.37:g.129843245C>A	ENSP00000359965:p.Trp7Cys	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	192	63	NM_182314	0	0	0	0	0	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769437	0.31320	.	.	ENSG00000165675	ENST00000338144;ENST00000370927	.	.	.	2.92	2.02	0.26589	.	0.353337	0.22667	N	0.057110	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	8	.	.	.	.	6.8973	0.24262	0.0:0.7169:0.2831:0.0	.	7	Q16206	ENOX2_HUMAN	C	7	.	.	W	-	3	0	ENOX2	129670926	0.040000	0.19996	0.036000	0.18154	0.135000	0.20990	0.136000	0.15974	0.597000	0.29811	0.600000	0.82982	TGG	.		0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		A	129843245	C	A	129843245	3	1	31	1	0	0	0	0	1	0	0	0	5143	740	26	3	1863	3	ENOX2	23	129843245	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	554034	129843245	25427315	2445	7997											
ARHGAP36	158763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	130222738	130222738	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggaggccaaaactggCgtcagctacttctttcctta	10	10	2	1	rs367946269		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130222738C>G	ENST00000276211.5	+	12	1968	c.1623C>G	c.(1621-1623)ggC>ggG	p.G541G	ARHGAP36_ENST00000370922.1_Silent_p.G529G|ARHGAP36_ENST00000370921.1_Silent_p.G405G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	541					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						CCAAAACTGGCGTCAGCTACT	0.547																																					p.G541G		.											.	ARHGAP36-133	0			c.C1623G						.						86	80	82					X																	130222738		2203	4300	6503	SO:0001819	synonymous_variant	158763	exon12			AACTGGCGTCAGC		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.1623C>G	X.37:g.130222738C>G		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	116	37	NM_144967	0	0	0	0	0	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																			.		0.547	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		G	130222738	C	G	130222738	2	3	31	1	0	0	0	0	0	0	0	1	883	755	27	2		2	ARHGAP36	23	130222738	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	379493	130222738	25047822	2446	7998											
IGSF1	3547	ucsc.edu;bcgsc.ca	37	chrX	130419880	130419880	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggtcttgtgggaagggcgGatccaggtcatctgtgtctt	15	7	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130419880G>T	ENST00000361420.3	-	4	319	c.240C>A	c.(238-240)atC>atA	p.I80I	IGSF1_ENST00000370900.1_Silent_p.I80I|IGSF1_ENST00000370901.4_Silent_p.I80I|IGSF1_ENST00000370910.1_Silent_p.I71I|IGSF1_ENST00000370904.1_Silent_p.I71I|IGSF1_ENST00000370903.3_Silent_p.I80I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	80	Ig-like C2-type 1.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGAAGGGCGGATCCAGGTCA	0.537																																					p.I80I		.											.	IGSF1-133	0			c.C240A						.						184	154	164					X																	130419880		2203	4300	6503	SO:0001819	synonymous_variant	3547	exon4			AGGGCGGATCCAG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.240C>A	X.37:g.130419880G>T		Somatic	194	2		WXS	Illumina GAIIx	Phase_I	256	87	NM_001555	0	0	0	0	0	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																			.		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			T	130419880	G	T	130419880	2	4	31	1	0	0	0	0	0	0	0	1	7623	1164	41	3		3	IGSF1	23	130419880	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	197142	130419880	24850680	2447	7999											
OR13H1	347468	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	130678317	130678318	+	Missense_Mutation	DNP	CT	CT	AA													cattgtttctctacccatccCtacctctcttatccccgatg							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130678317_130678318CT>AA	ENST00000338616.3	+	1	368_369	c.270_271CT>AA	c.(268-273)ccCTac>ccAAac	p.Y91N		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	91						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)					CTACCCATCCCTACCTCTCTTA	0.505																																					p.Y91N		.											.	OR13H1-108	0			c.T271A						.																																			SO:0001583	missense	347468	exon1			CATCCCTACCTCT		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	Exception_encountered	X.37:g.130678317_130678318delinsAA	ENSP00000340748:p.Tyr91Asn	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	185	10	NM_001004486	0	0	0	0	0	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	DNP	ENST00000338616.3	37	CCDS35396.1																																																																																			.		0.505	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			AA	130678318	CT	AA	130678317	3	1	31	1	0	0	0	0	1	0	0	0	10982	668	24	3	272	3	OR13H1	23	130678317	Missense_Mutation	DNP	CT	TCGA-OR-A5KB-01A-11D-A30A-10	258437	130678317	24592243	2448	8000											
FRMD7	90167	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	131214283	131214283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattccaaaagttgccttTgggttcgtccactatcataa	6	10	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:131214283T>C	ENST00000298542.4	-	10	1092	c.917A>G	c.(916-918)cAa>cGa	p.Q306R	FRMD7_ENST00000464296.1_Missense_Mutation_p.Q291R|FRMD7_ENST00000370879.1_Missense_Mutation_p.Q186R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	306					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGTTGCCTTTGGGTTCGTCC	0.368																																					p.Q306R		.											.	FRMD7-228	0			c.A917G						.						133	118	123					X																	131214283		2203	4300	6503	SO:0001583	missense	90167	exon10			TGCCTTTGGGTTC	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.917A>G	X.37:g.131214283T>C	ENSP00000298542:p.Gln306Arg	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	205	60	NM_194277	0	0	0	0	0	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471188	0.84533	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89270	-2.49;-2.49;-2.49	5.6	5.6	0.85130	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	M	0.85630	2.765	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.977	D	0.95286	0.8390	10	0.87932	D	0	.	13.8483	0.63481	0.0:0.0:0.0:1.0	.	291;306	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	R	186;306;291	ENSP00000359916:Q186R;ENSP00000298542:Q306R;ENSP00000417996:Q291R	ENSP00000298542:Q306R	Q	-	2	0	FRMD7	131041964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.449000	0.80643	1.867000	0.54127	0.486000	0.48141	CAA	.		0.368	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		C	131214283	T	C	131214283	3	2	31	1	0	0	0	0	1	0	0	0	6079	1812	63	4	1239	4	FRMD7	23	131214283	Missense_Mutation	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	535966	131214283	24056277	2449	8001											
RAP2C	57826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	131348263	131348263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatgaatagttcatttgcCtgacgatctcagcaaaaagt	10	7	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:131348263C>A	ENST00000342983.2	-	3	1231	c.485G>T	c.(484-486)aGg>aTg	p.R162M	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.R162M|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	162					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GTTCATTTGCCTGACGATCTC	0.458																																					p.R162M		.											.	RAP2C-848	0			c.G485T						.						128	106	113					X																	131348263		2203	4299	6502	SO:0001583	missense	57826	exon3			ATTTGCCTGACGA	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.485G>T	X.37:g.131348263C>A	ENSP00000340274:p.Arg162Met	Somatic	417	0		WXS	Illumina GAIIx	Phase_I	447	150	NM_021183	0	0	0	0	0	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611601	0.87258	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.79352	-1.26;-1.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.91192	0.7225	M	0.93638	3.44	0.58432	D	0.999998	D	0.76494	0.999	D	0.68192	0.956	D	0.93335	0.6704	10	0.87932	D	0	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	162	Q9Y3L5	RAP2C_HUMAN	M	162	ENSP00000340274:R162M;ENSP00000359911:R162M	ENSP00000340274:R162M	R	-	2	0	RAP2C	131175944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.363000	0.80096	0.556000	0.70494	AGG	.		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		A	131348263	C	A	131348263	3	1	31	1	0	0	0	0	1	0	0	0	13087	681	24	3	70	3	RAP2C	23	131348263	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	133980	131348263	23922297	2450	8002											
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	134679347	134679347	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatgtttggtttgcaGgctggttggaaggaaaatca	13	3	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134679347G>T	ENST00000370752.4	+	3	523		c.e3-1		DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTTTGCAGGCTGGTTGGA	0.353																																					.		.											.	DDX26B-226	0			c.190-1G>T						.						73	72	72					X																	134679347		2203	4300	6503	SO:0001630	splice_region_variant	203522	exon3			TTTGCAGGCTGGT	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.190-1G>T	X.37:g.134679347G>T		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	138	49	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807375	0.70797	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7163	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX26B	134507013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.401000	0.81631	0.600000	0.82982	.	.		0.353	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Intron	T	134679347	G	T	134679347	5	4	31	1	0	0	0	0	0	0	1	0	4362	1014	35	3	199	3	DDX26B	23	134679347	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	3331084	134679347	20591213	2451	8003											
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	134679497	134679498	+	Splice_Site	DNP	GG	GG	TT													ggaatagacaattatggacaGgtaaaaataatttgagtgag							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134679497_134679498GG>TT	ENST00000370752.4	+	3	673	c.339_339GG>TT	c.(337-339)caGG>caTTg	p.Q113H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	113	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATGGACAGGTAAAAATAAT	0.342																																					.		.											.	DDX26B-226	0			c.339+1G>T						.																																			SO:0001630	splice_region_variant	203522	exon3			GGACAGGTAAAAA	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	Exception_encountered	X.37:g.134679497_134679498delinsTT		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	87	2	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	DNP	ENST00000370752.4	37	CCDS35401.1																																																																																			.		0.342	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Missense_Mutation	TT	134679498	GG	TT	134679497	5	4	31	1	0	0	0	0	0	0	1	0	4362	1014	35	3	349	3	DDX26B	23	134679497	Splice_Site	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	150	134679497	20591063	2452	8004											
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	134707987	134707987	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttattgttggacaagatgaaGgtaaaataactgtgaaatac	9	3	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134707987G>C	ENST00000370752.4	+	12	1964	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	544										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGATGAAGGTAAAATAAC	0.348																																					p.D544H		.											.	DDX26B-226	0			c.G1630C						.						42	41	41					X																	134707987		2203	4300	6503	SO:0001630	splice_region_variant	203522	exon12			GATGAAGGTAAAA	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1630+1G>C	X.37:g.134707987G>C		Somatic	242	0		WXS	Illumina GAIIx	Phase_I	208	65	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943966	0.73672	.	.	ENSG00000165359	ENST00000370752	T	0.55930	0.49	5.0	5.0	0.66597	.	0.194160	0.52532	D	0.000068	T	0.75722	0.3888	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.80982	-0.1139	10	0.87932	D	0	-16.1637	16.317	0.82931	0.0:0.0:1.0:0.0	.	544;544	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	H	544	ENSP00000359788:D544H	ENSP00000359788:D544H	D	+	1	0	DDX26B	134535653	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.213000	0.95133	2.049000	0.60858	0.513000	0.50165	GAT	.		0.348	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Missense_Mutation	C	134707987	G	C	134707987	5	2	31	1	0	0	0	0	0	0	1	0	4362	1014	35	3	1676	3	DDX26B	23	134707987	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	28490	134707987	20562573	2453	8005											
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	134992242	134992242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattaaaaatggccaagcaGcatccgataatgtcttctcg	8	9	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134992242G>T	ENST00000370709.3	+	14	1777	c.1777G>T	c.(1777-1779)Gca>Tca	p.A593S	SAGE1_ENST00000324447.3_Missense_Mutation_p.A593S|SAGE1_ENST00000537770.1_Missense_Mutation_p.A217S|SAGE1_ENST00000535938.1_Missense_Mutation_p.A593S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	593						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)					TGGCCAAGCAGCATCCGATAA	0.393																																					p.A593S		.											.	SAGE1-133	0			c.G1777T						.						127	112	117					X																	134992242		2203	4300	6503	SO:0001583	missense	55511	exon15			CAAGCAGCATCCG	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.1777G>T	X.37:g.134992242G>T	ENSP00000359743:p.Ala593Ser	Somatic	295	0		WXS	Illumina GAIIx	Phase_I	270	90	NM_018666	0	0	0	0	0	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662754	0.29515	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.34859	1.43;1.43;1.34;1.43	1.33	-1.38	0.09027	.	0.154328	0.43416	U	0.000574	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	1	P;D	0.54964	0.936;0.969	P;P	0.54629	0.757;0.757	T	0.27088	-1.0084	10	0.29301	T	0.29	.	6.5512	0.22436	0.0:0.418:0.582:0.0	.	217;593	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	593;593;217;593	ENSP00000323191:A593S;ENSP00000445959:A593S;ENSP00000438276:A217S;ENSP00000359743:A593S	ENSP00000323191:A593S	A	+	1	0	SAGE1	134819908	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.320000	0.08028	-0.448000	0.07128	0.171000	0.16805	GCA	.		0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		T	134992242	G	T	134992242	3	4	31	1	0	0	0	0	1	0	0	0	13854	971	34	3	1831	3	SAGE1	23	134992242	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	284255	134992242	20278318	2454	8006											
SLC9A6	10479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135098854	135098854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttcatcttctcctacatGgggctgacactgttcacctt	6	12	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135098854G>T	ENST00000370698.3	+	10	1226	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.M377I|SLC9A6_ENST00000370695.4_Missense_Mutation_p.M429I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	397					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTCCTACATGGGGCTGACAC	0.328																																					p.M429I		.											.	SLC9A6-131	0			c.G1287T						.						132	112	119					X																	135098854		2203	4300	6503	SO:0001583	missense	10479	exon10			CTACATGGGGCTG	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1191G>T	X.37:g.135098854G>T	ENSP00000359732:p.Met397Ile	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	100	40	NM_001042537	0	0	0	0	0	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435248	0.43224	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.13307	2.6;2.6;2.6	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.43757	1.38	0.80722	D	1	P;B	0.36110	0.537;0.384	B;B	0.42882	0.155;0.401	T	0.04467	-1.0949	10	0.12766	T	0.61	.	17.6713	0.88218	0.0:0.0:1.0:0.0	.	429;397	Q92581-2;Q92581	.;SL9A6_HUMAN	I	377;397;429	ENSP00000359735:M377I;ENSP00000359732:M397I;ENSP00000359729:M429I	ENSP00000359729:M429I	M	+	3	0	SLC9A6	134926520	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.476000	0.97823	2.390000	0.81377	0.600000	0.82982	ATG	.		0.328	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		T	135098854	G	T	135098854	3	4	31	1	0	0	0	0	1	0	0	0	14763	1348	47	3	1325	3	SLC9A6	23	135098854	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	106612	135098854	20171706	2455	8007											
SLC9A6	10479	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	135112310	135112310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttggtgttgattcagacCaagaacacttggtaaatatg	12	5	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135112310C>A	ENST00000370698.3	+	13	1575	c.1540C>A	c.(1540-1542)Caa>Aaa	p.Q514K	SLC9A6_ENST00000370701.1_Missense_Mutation_p.Q494K|SLC9A6_ENST00000370695.4_Missense_Mutation_p.Q546K	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	514					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGATTCAGACCAAGAACACTT	0.358																																					p.Q546K		.											.	SLC9A6-131	0			c.C1636A						.						300	241	261					X																	135112310		2203	4300	6503	SO:0001583	missense	10479	exon13			TCAGACCAAGAAC	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1540C>A	X.37:g.135112310C>A	ENSP00000359732:p.Gln514Lys	Somatic	150	2		WXS	Illumina GAIIx	Phase_I	181	69	NM_001042537	0	0	0	0	0	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287819	0.40494	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.28895	1.59;1.59;1.59	4.36	4.36	0.52297	.	2.448930	0.01359	N	0.012163	T	0.39462	0.1079	M	0.65498	2.005	0.38524	D	0.948797	B;B	0.28208	0.203;0.04	B;B	0.29077	0.098;0.045	T	0.20773	-1.0265	10	0.29301	T	0.29	.	11.5451	0.50688	0.0:1.0:0.0:0.0	.	546;514	Q92581-2;Q92581	.;SL9A6_HUMAN	K	494;514;546	ENSP00000359735:Q494K;ENSP00000359732:Q514K;ENSP00000359729:Q546K	ENSP00000359729:Q546K	Q	+	1	0	SLC9A6	134939976	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.668000	0.68074	1.755000	0.51935	0.292000	0.19580	CAA	.		0.358	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		A	135112310	C	A	135112310	3	1	31	1	0	0	0	0	1	0	0	0	14763	595	21	3	1686	3	SLC9A6	23	135112310	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13456	135112310	20158250	2456	8008											
FHL1	2273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	135288629	135288629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactactgcagggatcCcttgcaggggaagaagtatg	13	10	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135288629C>G	ENST00000345434.3	+	2	119	c.38C>G	c.(37-39)cCc>cGc	p.P13R	FHL1_ENST00000370690.3_Missense_Mutation_p.P13R|FHL1_ENST00000370676.3_Missense_Mutation_p.P29R|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.P13R|FHL1_ENST00000394155.2_Missense_Mutation_p.P13R|FHL1_ENST00000543669.1_Missense_Mutation_p.P13R|FHL1_ENST00000539015.1_Missense_Mutation_p.P42R|FHL1_ENST00000535737.1_Missense_Mutation_p.P13R|FHL1_ENST00000370683.1_Missense_Mutation_p.P29R			Q13642	FHL1_HUMAN	four and a half LIM domains 1	13					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TGCAGGGATCCCTTGCAGGGG	0.562																																					p.P42R		.											.	FHL1-130	0			c.C125G						.						174	153	160					X																	135288629		2203	4300	6503	SO:0001583	missense	2273	exon2			GGGATCCCTTGCA	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.38C>G	X.37:g.135288629C>G	ENSP00000071281:p.Pro13Arg	Somatic	439	1		WXS	Illumina GAIIx	Phase_I	447	77	NM_001159701	0	0	0	0	0	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597693	0.13875	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.73	1.78	0.24846	Zinc finger, LIM-type (1);	0.738848	0.13591	N	0.376563	D	0.83903	0.5355	L	0.45352	1.415	0.09310	N	1	B;B;B;B	0.33212	0.402;0.19;0.286;0.136	B;B;B;B	0.38500	0.275;0.093;0.123;0.058	T	0.73742	-0.3887	10	0.72032	D	0.01	.	11.0707	0.48002	0.4921:0.3963:0.1116:0.0	.	42;29;29;13	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	R	13;13;13;13;13;13;13;13;13;13;53;13;13;42;29;29;29;13	ENSP00000377710:P13R;ENSP00000359724:P13R;ENSP00000391779:P13R;ENSP00000389920:P13R;ENSP00000444815:P13R;ENSP00000408038:P13R;ENSP00000413798:P13R;ENSP00000443333:P13R;ENSP00000377709:P13R;ENSP00000412642:P13R;ENSP00000414604:P13R;ENSP00000071281:P13R;ENSP00000437673:P42R;ENSP00000359717:P29R;ENSP00000359710:P29R;ENSP00000359708:P13R	ENSP00000071281:P13R	P	+	2	0	FHL1	135116295	0.002000	0.14202	0.036000	0.18154	0.245000	0.25701	1.707000	0.37888	-0.082000	0.12640	-1.156000	0.01807	CCC	.		0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		G	135288629	C	G	135288629	3	3	31	1	0	0	0	0	1	0	0	0	5900	623	22	3	157	3	FHL1	23	135288629	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	176319	135288629	19981931	2457	8009											
MAP7D3	79649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135313958	135313958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttccaggctcgcctcCggggatgctactatgctcac	12	14	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135313958C>T	ENST00000316077.9	-	8	1378	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Silent_p.P368P|MAP7D3_ENST00000370661.1_Silent_p.P351P	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	386					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGCTCGCCTCCGGGGATGCTA	0.602																																					p.P386P		.											.	MAP7D3-110	0			c.G1158A						.						61	61	61					X																	135313958		2025	4180	6205	SO:0001819	synonymous_variant	79649	exon8			CGCCTCCGGGGAT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1158G>A	X.37:g.135313958C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	137	60	NM_024597	0	0	0	0	0	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	CCDS44004.1																																																																																			.		0.602	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135313958	C	T	135313958	2	4	31	1	0	0	0	0	0	0	0	1	9307	639	23	1		1	MAP7D3	23	135313958	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	25329	135313958	19956602	2458	8010											
GPR112	139378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135428212	135428212	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccaagggagactgttGttccatcagtagatataata	9	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135428212G>C	ENST00000394143.1	+	6	2638	c.2347G>C	c.(2347-2349)Gtt>Ctt	p.V783L	GPR112_ENST00000370652.1_Missense_Mutation_p.V783L|GPR112_ENST00000394141.1_Missense_Mutation_p.V578L|GPR112_ENST00000287534.4_Missense_Mutation_p.V720L|GPR112_ENST00000412101.1_Missense_Mutation_p.V578L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	783					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAGACTGTTGTTCCATCAGT	0.358																																					p.V783L		.											.	GPR112-183	0			c.G2347C						.						76	69	71					X																	135428212		2203	4300	6503	SO:0001583	missense	139378	exon6			ACTGTTGTTCCAT	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2347G>C	X.37:g.135428212G>C	ENSP00000377699:p.Val783Leu	Somatic	286	0		WXS	Illumina GAIIx	Phase_I	250	87	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.721164	0.30503	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34072	1.42;1.42;1.38;1.51;1.38	2.86	0.922	0.19408	.	.	.	.	.	T	0.24353	0.0590	L	0.29908	0.895	0.09310	N	1	P;B;P	0.41929	0.684;0.349;0.765	B;B;B	0.42112	0.376;0.186;0.209	T	0.14839	-1.0458	9	0.59425	D	0.04	.	2.4185	0.04442	0.1776:0.0:0.5201:0.3023	.	720;578;783	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	783;783;578;720;578	ENSP00000377699:V783L;ENSP00000359686:V783L;ENSP00000416526:V578L;ENSP00000287534:V720L;ENSP00000377697:V578L	ENSP00000287534:V720L	V	+	1	0	GPR112	135255878	0.003000	0.15002	0.003000	0.11579	0.077000	0.17291	-0.213000	0.09305	0.362000	0.24319	0.279000	0.19357	GTT	.		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135428212	G	C	135428212	3	2	31	1	0	0	0	0	1	0	0	0	6655	1377	48	3	2357	3	GPR112	23	135428212	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	114254	135428212	19842348	2459	8011											
GPR112	139378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	135430562	135430562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgagatgtcctcaatacCagttaataactctgctttca	6	10	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135430562C>A	ENST00000394143.1	+	6	4988	c.4697C>A	c.(4696-4698)cCa>cAa	p.P1566Q	GPR112_ENST00000370652.1_Missense_Mutation_p.P1566Q|GPR112_ENST00000394141.1_Missense_Mutation_p.P1361Q|GPR112_ENST00000287534.4_Missense_Mutation_p.P1503Q|GPR112_ENST00000412101.1_Missense_Mutation_p.P1361Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1566					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCTCAATACCAGTTAATAAC	0.418																																					p.P1566Q		.											.	GPR112-183	0			c.C4697A						.						136	128	131					X																	135430562		2203	4300	6503	SO:0001583	missense	139378	exon6			CAATACCAGTTAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4697C>A	X.37:g.135430562C>A	ENSP00000377699:p.Pro1566Gln	Somatic	224	1		WXS	Illumina GAIIx	Phase_I	241	72	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.885361	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32753	1.48;1.48;1.44;1.57;1.44	2.86	2.86	0.33363	.	.	.	.	.	T	0.32102	0.0818	N	0.24115	0.695	0.09310	N	1	P;D;P	0.55385	0.95;0.971;0.952	P;P;P	0.55391	0.55;0.775;0.601	T	0.08106	-1.0738	9	0.66056	D	0.02	.	9.1772	0.37118	0.0:1.0:0.0:0.0	.	1503;1361;1566	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Q	1566;1566;1361;1503;1361	ENSP00000377699:P1566Q;ENSP00000359686:P1566Q;ENSP00000416526:P1361Q;ENSP00000287534:P1503Q;ENSP00000377697:P1361Q	ENSP00000287534:P1503Q	P	+	2	0	GPR112	135258228	0.358000	0.24947	0.025000	0.17156	0.006000	0.05464	2.252000	0.43196	1.390000	0.46547	0.287000	0.19450	CCA	.		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135430562	C	A	135430562	3	1	31	1	0	0	0	0	1	0	0	0	6655	594	21	3	4707	3	GPR112	23	135430562	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2350	135430562	19839998	2460	8012											
GPR112	139378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	135474475	135474475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattcaaaacttagctgacCcagtggttatcactctgcag	7	11	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135474475C>A	ENST00000394143.1	+	17	8287	c.7996C>A	c.(7996-7998)Cca>Aca	p.P2666T	GPR112_ENST00000370652.1_Missense_Mutation_p.P2666T|GPR112_ENST00000394141.1_Missense_Mutation_p.P2461T|GPR112_ENST00000287534.4_Missense_Mutation_p.P2419T|GPR112_ENST00000412101.1_Missense_Mutation_p.P2461T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2666					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCTGACCCAGTGGTTAT	0.393																																					p.P2666T		.											.	GPR112-183	0			c.C7996A						.						132	122	126					X																	135474475		2203	4300	6503	SO:0001583	missense	139378	exon17			GCTGACCCAGTGG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7996C>A	X.37:g.135474475C>A	ENSP00000377699:p.Pro2666Thr	Somatic	294	1		WXS	Illumina GAIIx	Phase_I	302	80	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803752	0.70682	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.36878	1.24;1.24;1.23;1.44;1.23	5.25	5.25	0.73442	.	.	.	.	.	T	0.54078	0.1836	L	0.43923	1.385	0.44359	D	0.997258	D;P	0.76494	0.999;0.796	D;P	0.76575	0.988;0.908	T	0.56890	-0.7904	9	0.87932	D	0	.	17.8456	0.88729	0.0:1.0:0.0:0.0	.	2461;2666	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2666;2666;2461;2419;2461	ENSP00000377699:P2666T;ENSP00000359686:P2666T;ENSP00000416526:P2461T;ENSP00000287534:P2419T;ENSP00000377697:P2461T	ENSP00000287534:P2419T	P	+	1	0	GPR112	135302141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.733000	0.62036	2.334000	0.79466	0.600000	0.82982	CCA	.		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135474475	C	A	135474475	3	1	31	1	0	0	0	0	1	0	0	0	6655	623	22	3	8050	3	GPR112	23	135474475	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	43913	135474475	19796085	2461	8013											
FGF13	2258	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	137790993	137790993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttactgtaagtgctgtcCtcatctttggtgccatcaat	7	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:137790993C>A	ENST00000315930.6	-	2	946	c.285G>T	c.(283-285)gaG>gaT	p.E95D	FGF13_ENST00000541469.1_Missense_Mutation_p.E49D|FGF13_ENST00000305414.4_Missense_Mutation_p.E42D|FGF13_ENST00000370603.3_Missense_Mutation_p.E105D|FGF13_ENST00000441825.2_Missense_Mutation_p.E76D|FGF13-AS1_ENST00000446383.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	95	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGTGCTGTCCTCATCTTTGG	0.398																																					p.E105D		.											.	FGF13-626	0			c.G315T						.						196	173	181					X																	137790993		2203	4300	6503	SO:0001583	missense	2258	exon4			GCTGTCCTCATCT	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.285G>T	X.37:g.137790993C>A	ENSP00000322390:p.Glu95Asp	Somatic	126	2		WXS	Illumina GAIIx	Phase_I	131	35	NM_001139500	0	0	0	0	0	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530248	0.13127	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.1	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	N	0.17248	0.465	0.52501	D	0.999958	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.10450	0.002;0.005;0.001;0.003	T	0.51268	-0.8727	10	0.02654	T	1	.	8.3667	0.32391	0.0:0.6737:0.0:0.3263	.	49;105;42;95	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	D	95;42;76;105;49;105;111	ENSP00000322390:E95D;ENSP00000303391:E42D;ENSP00000409276:E76D;ENSP00000359635:E105D;ENSP00000437903:E49D;ENSP00000396198:E105D;ENSP00000406916:E111D	ENSP00000303391:E42D	E	-	3	2	FGF13	137618659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.867000	0.27968	0.946000	0.37632	0.513000	0.50165	GAG	.		0.398	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		A	137790993	C	A	137790993	3	1	31	1	0	0	0	0	1	0	0	0	5864	680	24	3	468	3	FGF13	23	137790993	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2316518	137790993	17479567	2462	8014											
MCF2	4168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	138699719	138699719	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgctgagttgtatccGttttgcttttatctcattaa	8	8	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:138699719G>T	ENST00000370576.4	-	8	1161	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	MCF2_ENST00000370578.4_Silent_p.R463R|MCF2_ENST00000338585.6_Silent_p.R318R|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000414978.1_Silent_p.R378R|MCF2_ENST00000520602.1_Silent_p.R378R|MCF2_ENST00000519895.1_Silent_p.R378R|MCF2_ENST00000370573.4_Silent_p.R318R|MCF2_ENST00000536274.1_Silent_p.R279R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	318					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGTTGTATCCGTTTTGCTTTT	0.383																																					p.R378R		.											.	MCF2-227	0			c.C1132A						.						220	180	193					X																	138699719		2203	4300	6503	SO:0001819	synonymous_variant	4168	exon11			GTATCCGTTTTGC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.952C>A	X.37:g.138699719G>T		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	115	35	NM_001171876	0	0	0	0	0	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																			.		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		T	138699719	G	T	138699719	2	4	31	1	0	0	0	0	0	0	0	1	9416	1144	40	2		2	MCF2	23	138699719	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	908726	138699719	16570841	2463	8015											
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	140993233	140993233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgctgggatgccgagtcttCtccagagttcctctgagagt	12	11	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:140993233C>G	ENST00000285879.4	+	4	329	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	15										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)					GCCGAGTCTTCTCCAGAGTTC	0.557										HNSCC(15;0.026)																											p.L15V		.											.	MAGEC1-133	0			c.C43G						.						64	62	62					X																	140993233		2203	4300	6503	SO:0001583	missense	9947	exon4			AGTCTTCTCCAGA	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.43C>G	X.37:g.140993233C>G	ENSP00000285879:p.Leu15Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	114	29	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.754	-0.771755	0.02951	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.15603	4.04;2.41	0.458	-0.615	0.11587	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.33690	0.168	T	0.24977	-1.0145	8	0.87932	D	0	.	.	.	.	.	15	O60732	MAGC1_HUMAN	V	15;15;14	ENSP00000285879:L15V;ENSP00000359542:L15V	ENSP00000285879:L15V	L	+	1	0	MAGEC1	140820899	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.141000	0.10327	-0.436000	0.07254	0.179000	0.17066	CTC	.		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140993233	C	G	140993233	3	3	31	1	0	0	0	0	1	0	0	0	9218	913	32	3	49	3	MAGEC1	23	140993233	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2293514	140993233	14277327	2464	8016											
MAGEC2	51438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	141291129	141291129	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcactaccctcatcGgtgaggcctactgtgtttgc	8	13	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:141291129G>T	ENST00000247452.3	-	3	992	c.645C>A	c.(643-645)acC>acA	p.T215T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)																											p.T215T		.											.	MAGEC2-193	0			c.C645A						.						107	98	101					X																	141291129		2203	4300	6503	SO:0001819	synonymous_variant	51438	exon3			CTCATCGGTGAGG	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.645C>A	X.37:g.141291129G>T		Somatic	253	0		WXS	Illumina GAIIx	Phase_I	261	101	NM_016249	0	0	0	0	0	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	CCDS14678.1																																																																																			.		0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		T	141291129	G	T	141291129	2	4	31	1	0	0	0	0	0	0	0	1	9219	1103	39	2		2	MAGEC2	23	141291129	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	297896	141291129	13979431	2465	8017											
SPANXN3	139067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	142605191	142605191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggctcttcgtcttctccCcattggtgctggaagttggc	13	11	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142605191C>A	ENST00000370503.2	-	1	112	c.29G>T	c.(28-30)gGg>gTg	p.G10V	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	10										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CGTCTTCTCCCCATTGGTGCT	0.443																																					p.G10V		.											.	SPANXN3-132	0			c.G29T						.						269	236	247					X																	142605191		2203	4300	6503	SO:0001583	missense	139067	exon1			TTCTCCCCATTGG		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.29G>T	X.37:g.142605191C>A	ENSP00000359534:p.Gly10Val	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	118	31	NM_001009609	0	0	0	0	0	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511797	0.27036	.	.	ENSG00000189252	ENST00000370503	T	0.25085	1.82	2.36	-1.87	0.07737	.	.	.	.	.	T	0.44435	0.1293	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.29058	-1.0024	9	0.39692	T	0.17	.	6.7539	0.23501	0.0:0.5829:0.0:0.4171	.	10	Q5MJ09	SPXN3_HUMAN	V	10	ENSP00000359534:G10V	ENSP00000359534:G10V	G	-	2	0	SPANXN3	142432857	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.051000	0.03507	-0.655000	0.05387	0.509000	0.49947	GGG	.		0.443	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		A	142605191	C	A	142605191	3	1	31	1	0	0	0	0	1	0	0	0	15039	623	22	3	404	3	SPANXN3	23	142605191	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1314062	142605191	12665369	2466	8018											
SLITRK4	139065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	142717517	142717517	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcaaatttggcatggagtCaaaggtgcctgctgagattt	12	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142717517C>T	ENST00000381779.4	-	2	1633	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	SLITRK4_ENST00000338017.4_Missense_Mutation_p.D470N|SLITRK4_ENST00000356928.1_Missense_Mutation_p.D470N	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	470						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGAGTCAAAGGTGCCT	0.388																																					p.D470N		.											.	SLITRK4-193	0			c.G1408A						.						65	68	67					X																	142717517		2203	4300	6503	SO:0001583	missense	139065	exon2			TGGAGTCAAAGGT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1408G>A	X.37:g.142717517C>T	ENSP00000371198:p.Asp470Asn	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	165	66	NM_001184750	0	0	0	0	0	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508560	0.27036	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57595	0.39;0.39;0.39	5.49	5.49	0.81192	.	0.051980	0.85682	D	0.000000	T	0.44973	0.1319	L	0.33093	0.98	0.80722	D	1	B	0.15141	0.012	B	0.25614	0.062	T	0.28902	-1.0029	10	0.20519	T	0.43	-14.0182	17.0974	0.86639	0.0:1.0:0.0:0.0	.	470	Q8IW52	SLIK4_HUMAN	N	470	ENSP00000371198:D470N;ENSP00000349400:D470N;ENSP00000336627:D470N	ENSP00000336627:D470N	D	-	1	0	SLITRK4	142545183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.042000	0.57347	2.445000	0.82738	0.600000	0.82982	GAC	.		0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142717517	C	T	142717517	3	4	31	1	0	0	0	0	1	0	0	0	14790	826	29	3	1109	3	SLITRK4	23	142717517	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	112326	142717517	12553043	2467	8019											
UBE2NL	389898	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	142967266	142967266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcagagccagttcctGgcatcaaagcagaaccagat	11	11	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142967266G>T	ENST00000370494.1	+	1	94	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	22						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGTTCCTGGCATCAAAGC	0.522																																					p.G22C		.											.	UBE2NL-226	0			c.G64T						.						72	70	71					X																	142967266		2203	4300	6503	SO:0001583	missense	389898	exon1			GTTCCTGGCATCA			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.64G>T	X.37:g.142967266G>T	ENSP00000359525:p.Gly22Cys	Somatic	212	1		WXS	Illumina GAIIx	Phase_I	211	79	NM_001012989	0	0	0	0	0	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504375	0.26949	.	.	ENSG00000102069	ENST00000370494	T	0.76186	-1.0	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44483	U	0.000450	D	0.91112	0.7202	H	0.99890	4.9	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89548	0.3797	10	0.87932	D	0	0.002	7.8005	0.29172	0.0:0.0:1.0:0.0	.	22	Q5JXB2	UE2NL_HUMAN	C	22	ENSP00000359525:G22C	ENSP00000359525:G22C	G	+	1	0	UBE2NL	142794932	1.000000	0.71417	0.827000	0.32855	0.088000	0.18126	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GGC	.		0.522	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		T	142967266	G	T	142967266	3	4	31	1	0	0	0	0	1	0	0	0	16916	1348	47	3	66	3	UBE2NL	23	142967266	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	249749	142967266	12303294	2468	8020											
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	144904123	144904123	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttagcctgctccagcccccCcagtatcgaatctatcagct	7	16	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144904123C>A	ENST00000370490.1	+	1	4435	c.180C>A	c.(178-180)ccC>ccA	p.P60P	SLITRK2_ENST00000428560.2_Silent_p.P60P|SLITRK2_ENST00000413937.2_Silent_p.P60P|SLITRK2_ENST00000434188.2_Silent_p.P60P|SLITRK2_ENST00000447897.2_Silent_p.P60P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	60					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)					TCCAGCCCCCCCAGTATCGAA	0.433																																					p.P60P		.											.	SLITRK2-136	0			c.C180A						.						89	81	84					X																	144904123		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			GCCCCCCCAGTAT	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.180C>A	X.37:g.144904123C>A		Somatic	188	0		WXS	Illumina GAIIx	Phase_I	185	64	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																			.		0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144904123	C	A	144904123	2	1	31	1	0	0	0	0	0	0	0	1	14788	610	22	3		3	SLITRK2	23	144904123	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	1936857	144904123	10366437	2469	8021											
SLITRK2	84631	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	144905093	144905093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaactctacctaacaGggaactatcttcaaactgtc	5	11	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144905093G>T	ENST00000370490.1	+	1	5405	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	SLITRK2_ENST00000428560.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G384W			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	384					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)					CTACCTAACAGGGAACTATCT	0.418																																					p.G384W		.											.	SLITRK2-136	0			c.G1150T						.						73	69	70					X																	144905093		2203	4300	6503	SO:0001583	missense	84631	exon5			CTAACAGGGAACT	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.1150G>T	X.37:g.144905093G>T	ENSP00000359521:p.Gly384Trp	Somatic	202	1		WXS	Illumina GAIIx	Phase_I	206	87	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818653	0.71028	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.66	5.66	0.87406	.	0.054065	0.64402	D	0.000001	T	0.71779	0.3380	M	0.71206	2.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.74760	-0.3556	10	0.72032	D	0.01	-8.3494	15.9269	0.79624	0.0:0.0:1.0:0.0	.	384	Q9H156	SLIK2_HUMAN	W	384	ENSP00000334374:G384W;ENSP00000411681:G384W;ENSP00000359521:G384W;ENSP00000397015:G384W;ENSP00000407347:G384W;ENSP00000412010:G384W	ENSP00000334374:G384W	G	+	1	0	SLITRK2	144712785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.545000	0.73883	2.360000	0.80028	0.594000	0.82650	GGG	.		0.418	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144905093	G	T	144905093	3	4	31	1	0	0	0	0	1	0	0	0	14788	1000	35	3	1152	3	SLITRK2	23	144905093	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	970	144905093	10365467	2470	8022											
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	144905170	144905170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcacttaggaaacaaCaggattgcagtcattcagga	9	8	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144905170C>A	ENST00000370490.1	+	1	5482	c.1227C>A	c.(1225-1227)aaC>aaA	p.N409K	SLITRK2_ENST00000428560.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N409K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	409					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)					TAGGAAACAACAGGATTGCAG	0.403																																					p.N409K		.											.	SLITRK2-136	0			c.C1227A						.						111	106	107					X																	144905170		2203	4300	6503	SO:0001583	missense	84631	exon5			AAACAACAGGATT	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.1227C>A	X.37:g.144905170C>A	ENSP00000359521:p.Asn409Lys	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	257	66	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847974	0.51164	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.49	2.6	0.31112	.	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	H	0.99498	4.595	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.89205	0.3560	10	0.87932	D	0	-10.8007	8.8144	0.34987	0.0:0.7268:0.0:0.2732	.	409	Q9H156	SLIK2_HUMAN	K	409	ENSP00000334374:N409K;ENSP00000411681:N409K;ENSP00000359521:N409K;ENSP00000397015:N409K;ENSP00000407347:N409K;ENSP00000412010:N409K	ENSP00000334374:N409K	N	+	3	2	SLITRK2	144712862	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	2.735000	0.47377	0.088000	0.17205	-0.215000	0.12644	AAC	.		0.403	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144905170	C	A	144905170	3	1	31	1	0	0	0	0	1	0	0	0	14788	477	17	3	1229	3	SLITRK2	23	144905170	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	77	144905170	10365390	2471	8023											
FMR1	2332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	147030346	147030346	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtggatggtcagcaaccactCgtgaatggagtaccctaaac	11	10	1	1	rs372396040		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:147030346C>A	ENST00000370475.4	+	17	2009	c.1881C>A	c.(1879-1881)ctC>ctA	p.L627L	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Nonsense_Mutation_p.S537*|FMR1_ENST00000439526.2_Silent_p.L587L|FMR1_ENST00000440235.2_Silent_p.L257L|FMR1_ENST00000370477.1_Silent_p.L577L|FMR1_ENST00000370470.1_Silent_p.L585L|FMR1_ENST00000218200.8_Silent_p.L606L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	627	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAACCACTCGTGAATGGAG	0.423									Fragile X syndrome																												p.S537X		.											.	FMR1-133	0			c.C1610A						.						132	113	119					X																	147030346		2203	4300	6503	SO:0001819	synonymous_variant	2332	exon16	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	ACCACTCGTGAAT	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1881C>A	X.37:g.147030346C>A		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	216	60	NM_001185075	0	0	0	0	0	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213931	0.97380	.	.	ENSG00000102081	ENST00000370471	.	.	.	5.61	-0.871	0.10642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.5803	2.9119	0.05739	0.1135:0.1666:0.4778:0.2421	.	.	.	.	X	537	.	ENSP00000359502:S537X	S	+	2	0	FMR1	146838038	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.055000	0.30467	-0.092000	0.12417	-0.199000	0.12753	TCG	.		0.423	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147030346	C	A	147030346	2	1	31	1	0	0	0	0	0	0	0	1	5982	893	31	2		2	FMR1	23	147030346	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	2125176	147030346	8240214	2472	8024											
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	148049222	148049222	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaaagctgatgcactGgtaagtttcctttttctcat	7	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148049222G>T	ENST00000370460.2	+	15	3746	c.3267G>T	c.(3265-3267)ctG>ctT	p.L1089L	AFF2_ENST00000342251.3_Splice_Site_p.L1056L|AFF2_ENST00000370457.5_Splice_Site_p.L1054L|AFF2_ENST00000286437.5_Splice_Site_p.L730L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1089					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348																																					p.L1089L		.											.	AFF2-135	0			c.G3267T						.						155	140	145					X																	148049222		2203	4300	6503	SO:0001630	splice_region_variant	2334	exon15			TGCACTGGTAAGT	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3267+1G>T	X.37:g.148049222G>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	77	28	NM_002025	0	0	0	0	0	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																			.		0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Silent	T	148049222	G	T	148049222	5	4	31	1	0	0	0	0	0	0	1	0	357	1362	47	3	3380	3	AFF2	23	148049222	Splice_Site	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1018876	148049222	7221338	2473	8025											
IDS	3423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	148582538	148582538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagaccagctatacGgagaatcatcggtatggtta	12	6	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148582538G>T	ENST00000340855.6	-	4	658	c.449C>A	c.(448-450)cCg>cAg	p.P150Q	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000422081.2_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.P150Q|IDS_ENST00000370443.4_Missense_Mutation_p.P150Q|IDS_ENST00000427113.2_5'Flank|IDS_ENST00000541269.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGCTATACGGAGAATCATC	0.388																																					p.P150Q		.											.	IDS-130	0			c.C449A						.						130	119	123					X																	148582538		2203	4300	6503	SO:0001583	missense	3423	exon4			CTATACGGAGAAT	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.449C>A	X.37:g.148582538G>T	ENSP00000339801:p.Pro150Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	90	26	NM_006123	0	0	0	0	0	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396306	0.83011	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443	D;D;D	0.98493	-4.96;-4.96;-4.96	5.16	5.16	0.70880	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.99886	1.1124	10	0.87932	D	0	.	18.0148	0.89236	0.0:0.0:1.0:0.0	.	150;60;150	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	Q	150	ENSP00000339801:P150Q;ENSP00000359470:P150Q;ENSP00000359472:P150Q	ENSP00000339801:P150Q	P	-	2	0	IDS	148390443	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.876000	0.92379	2.276000	0.75962	0.600000	0.82982	CCG	.		0.388	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			T	148582538	G	T	148582538	3	4	31	1	0	0	0	0	1	0	0	0	7530	1116	39	2	1257	2	IDS	23	148582538	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	533316	148582538	6688022	2474	8026											
MAGEA11	4110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	148797322	148797322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagaacccagaggatcaCtggaggagaacaagtgtaag	14	7	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148797322C>A	ENST00000355220.5	+	4	353	c.251C>A	c.(250-252)aCt>aAt	p.T84N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.T55N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGAGGATCACTGGAGGAGAA	0.517																																					p.T84N		.											.	MAGEA11-132	0			c.C251A						.						149	134	139					X																	148797322		2203	4300	6503	SO:0001583	missense	4110	exon4			GGATCACTGGAGG		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.251C>A	X.37:g.148797322C>A	ENSP00000347358:p.Thr84Asn	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	227	81	NM_005366	0	0	0	0	0	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	10.56	1.384695	0.25031	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03035	4.07;4.43;4.39	0.69	0.69	0.18039	.	.	.	.	.	T	0.05731	0.0150	N	0.19112	0.55	0.09310	N	1	D;P	0.54772	0.968;0.947	P;P	0.61874	0.895;0.788	T	0.47289	-0.9129	8	0.20046	T	0.44	.	.	.	.	.	55;84	G5E962;P43364	.;MAGAB_HUMAN	N	55;55;84	ENSP00000391496:T55N;ENSP00000328177:T55N;ENSP00000347358:T84N	ENSP00000328177:T55N	T	+	2	0	MAGEA11	148577083	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.042000	0.12063	0.596000	0.29794	0.436000	0.28706	ACT	.		0.517	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		A	148797322	C	A	148797322	3	1	31	1	0	0	0	0	1	0	0	0	9201	565	20	3	274	3	MAGEA11	23	148797322	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	214784	148797322	6473238	2475	8027											
MAMLD1	10046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	149639349	149639349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcagcagCaagcaaatgtgatctttaag	11	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149639349C>A	ENST00000370401.2	+	4	1814	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q477K|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q502K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q477K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					gcagcagcagcaAGCAAATGT	0.552																																					p.Q502K		.											.	MAMLD1-130	0			c.C1504A						.						48	45	46					X																	149639349		2203	4300	6503	SO:0001583	missense	10046	exon3			CAGCAGCAAGCAA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1504C>A	X.37:g.149639349C>A	ENSP00000359428:p.Gln502Lys	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	294	104	NM_005491	0	0	0	0	0	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173556	0.01646	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.92	4.03	0.46877	.	0.211795	0.23863	N	0.043840	T	0.47985	0.1475	L	0.47716	1.5	0.42008	D	0.990926	B;B;B	0.14012	0.001;0.009;0.002	B;B;B	0.09377	0.001;0.004;0.003	T	0.32613	-0.9900	10	0.06625	T	0.88	0.5075	9.2494	0.37547	0.2147:0.7853:0.0:0.0	.	477;477;502	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	K	502;477;502;477	ENSP00000359428:Q502K;ENSP00000414517:Q477K;ENSP00000262858:Q502K;ENSP00000397438:Q477K	ENSP00000262858:Q502K	Q	+	1	0	MAMLD1	149390007	0.059000	0.20769	0.018000	0.16275	0.104000	0.19210	1.161000	0.31773	1.022000	0.39626	0.600000	0.82982	CAA	.		0.552	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		A	149639349	C	A	149639349	3	1	31	1	0	0	0	0	1	0	0	0	9246	711	25	3	1514	3	MAMLD1	23	149639349	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	842027	149639349	5631211	2476	8028											
MTM1	4534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	149818249	149818249	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgccgaacttttcttcttaGacattcataatattcatgtt	4	9	4	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149818249G>C	ENST00000370396.2	+	10	982	c.928G>C	c.(928-930)Gac>Cac	p.D310H	MTM1_ENST00000542741.1_Missense_Mutation_p.D215H|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.D195H|MTM1_ENST00000413012.2_Missense_Mutation_p.D273H	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	310	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)					TTTCTTCTTAGACATTCATAA	0.343																																					p.D310H		.											.	MTM1-228	0			c.G928C	GRCh37	CD991802	MTM1	D		.						112	105	107					X																	149818249		2203	4297	6500	SO:0001583	missense	4534	exon10			TTCTTAGACATTC	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.928G>C	X.37:g.149818249G>C	ENSP00000359423:p.Asp310His	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	174	54	NM_000252	0	0	0	0	0	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116103	0.77323	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.83	4.97	0.65823	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	M	0.93283	3.4	0.54753	D	0.999987	D;D	0.71674	0.996;0.998	D;P	0.65773	0.938;0.907	D	0.96735	0.9542	10	0.87932	D	0	.	14.1344	0.65276	0.0738:0.0:0.9262:0.0	.	273;310	B7Z491;Q13496	.;MTM1_HUMAN	H	310;215;195;273	ENSP00000359423:D310H;ENSP00000444015:D215H;ENSP00000439784:D195H;ENSP00000389157:D273H	ENSP00000359423:D310H	D	+	1	0	MTM1	149568907	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.822000	0.99363	1.227000	0.43598	-0.198000	0.12761	GAC	.		0.343	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		C	149818249	G	C	149818249	3	2	31	1	0	0	0	0	1	0	0	0	9975	942	33	3	962	3	MTM1	23	149818249	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	178900	149818249	5452311	2477	8029											
MTMR1	8776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	149905230	149905230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctccaatgtggatgggaCgcattggctggaatatataa	12	7	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149905230C>A	ENST00000370390.3	+	10	1377	c.1220C>A	c.(1219-1221)aCg>aAg	p.T407K	MTMR1_ENST00000451863.2_Missense_Mutation_p.T407K|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.T407K|MTMR1_ENST00000445323.2_Missense_Mutation_p.T415K|MTMR1_ENST00000541925.1_Missense_Mutation_p.T313K	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	407	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGATGGGACGCATTGGCTG	0.438																																					p.T407K		.											.	MTMR1-131	0			c.C1220A						.						97	80	86					X																	149905230		2203	4300	6503	SO:0001583	missense	8776	exon10			ATGGGACGCATTG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1220C>A	X.37:g.149905230C>A	ENSP00000359417:p.Thr407Lys	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	148	49	NM_003828	0	0	0	0	0	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649265	0.87958	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31	5.26	5.26	0.73747	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.99289	1.0898	10	0.87932	D	0	.	18.0249	0.89265	0.0:1.0:0.0:0.0	.	407;415	Q13613;F8WA39	MTMR1_HUMAN;.	K	313;407;415;407;407	ENSP00000441879:T313K;ENSP00000359417:T407K;ENSP00000414178:T415K;ENSP00000440534:T407K;ENSP00000387446:T407K	ENSP00000359417:T407K	T	+	2	0	MTMR1	149655888	1.000000	0.71417	0.087000	0.20705	0.873000	0.50193	7.818000	0.86416	2.191000	0.70037	0.544000	0.68410	ACG	.		0.438	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		A	149905230	C	A	149905230	3	1	31	1	0	0	0	0	1	0	0	0	9976	536	19	2	1258	2	MTMR1	23	149905230	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	86981	149905230	5365330	2478	8030											
GPR50	9248	ucsc.edu;bcgsc.ca	37	chrX	150348568	150348568	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacattggcaccatcgagtaCgatcctcgcacctacacctg	7	15	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150348568C>G	ENST00000218316.3	+	2	582	c.513C>G	c.(511-513)taC>taG	p.Y171*	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	171					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGAGTACGATCCTCGCA	0.527																																					p.Y171X		.											.	GPR50-176	0			c.C513G						.						211	193	199					X																	150348568		2196	4282	6478	SO:0001587	stop_gained	9248	exon2			CGAGTACGATCCT	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.513C>G	X.37:g.150348568C>G	ENSP00000218316:p.Tyr171*	Somatic	251	3		WXS	Illumina GAIIx	Phase_I	274	97	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Nonsense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776994	0.70107	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	.	.	.	4.32	0.449	0.16619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7252	7.4549	0.27261	0.0:0.4281:0.0:0.5719	.	.	.	.	X	124;171	.	ENSP00000218316:Y171X	Y	+	3	2	GPR50	150099226	0.009000	0.17119	0.994000	0.49952	0.731000	0.41821	-1.007000	0.03667	-0.207000	0.10187	-0.355000	0.07637	TAC	.		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		G	150348568	C	G	150348568	4	3	31	1	0	0	0	0	0	1	0	0	6723	547	19	2	519	2	GPR50	23	150348568	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	443338	150348568	4921992	2479	8031											
GPR50	9248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	150349375	150349375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccactgtctaccctaaGcctgcctctgtccatttcaa	5	16	4	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150349375G>T	ENST00000218316.3	+	2	1389	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	440	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTACCCTAAGCCTGCCTCTG	0.542																																					p.K440N		.											.	GPR50-176	0			c.G1320T						.						234	246	242					X																	150349375		2108	4219	6327	SO:0001583	missense	9248	exon2			CCCTAAGCCTGCC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1320G>T	X.37:g.150349375G>T	ENSP00000218316:p.Lys440Asn	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	152	53	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	8.786	0.929483	0.18131	.	.	ENSG00000102195	ENST00000218316	T	0.76316	-1.01	3.79	2.91	0.33838	.	0.000000	0.40728	N	0.001040	T	0.59838	0.2223	N	0.24115	0.695	0.09310	N	1	B	0.33694	0.421	B	0.32289	0.143	T	0.55903	-0.8067	10	0.87932	D	0	-11.6567	4.9296	0.13910	0.1226:0.2115:0.6659:0.0	.	440	Q13585	MTR1L_HUMAN	N	440	ENSP00000218316:K440N	ENSP00000218316:K440N	K	+	3	2	GPR50	150100033	0.001000	0.12720	0.001000	0.08648	0.523000	0.34469	-0.040000	0.12104	0.938000	0.37419	0.529000	0.55759	AAG	.		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349375	G	T	150349375	3	4	31	1	0	0	0	0	1	0	0	0	6723	962	34	3	1326	3	GPR50	23	150349375	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	807	150349375	4921185	2480	8032											
FATE1	89885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	150891194	150891194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcgccgtgctggtgtcggCcagcattgccaacctgtggc	13	14	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150891194C>G	ENST00000370350.3	+	5	600	c.515C>G	c.(514-516)gCc>gGc	p.A172G		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	172						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTGTCGGCCAGCATTGCC	0.637																																					p.A172G		.											.	FATE1-131	0			c.C515G						.						53	55	55					X																	150891194		2203	4300	6503	SO:0001583	missense	89885	exon5			TGTCGGCCAGCAT	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.515C>G	X.37:g.150891194C>G	ENSP00000359375:p.Ala172Gly	Somatic	386	1		WXS	Illumina GAIIx	Phase_I	470	159	NM_033085	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928563	0.52759	.	.	ENSG00000147378	ENST00000370350	T	0.48522	0.81	4.39	2.57	0.30868	.	0.895951	0.09373	N	0.810998	T	0.44393	0.1291	L	0.27053	0.805	0.09310	N	1	P	0.51449	0.945	P	0.55161	0.77	T	0.23976	-1.0173	10	0.25106	T	0.35	-0.7574	5.8265	0.18556	0.0:0.7427:0.0:0.2573	.	172	Q969F0	FATE1_HUMAN	G	172	ENSP00000359375:A172G	ENSP00000359375:A172G	A	+	2	0	FATE1	150641850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.438000	0.06905	0.407000	0.25591	0.600000	0.82982	GCC	.		0.637	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		G	150891194	C	G	150891194	3	3	31	1	0	0	0	0	1	0	0	0	5715	739	26	3	533	3	FATE1	23	150891194	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	541819	150891194	4379366	2481	8033											
CNGA2	1260	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	150911588	150911588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagcaggggctgctgGtcaaagataccaagaaactg	13	9	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150911588G>T	ENST00000329903.4	+	6	646	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	205					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTGCTGGTCAAAGATAC	0.448																																					p.V205F		.											.	CNGA2-193	0			c.G613T						.						102	80	88					X																	150911588		2203	4300	6503	SO:0001583	missense	1260	exon7			CTGCTGGTCAAAG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.613G>T	X.37:g.150911588G>T	ENSP00000328478:p.Val205Phe	Somatic	240	1		WXS	Illumina GAIIx	Phase_I	205	65	NM_005140	0	0	0	0	0	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723016	0.68959	.	.	ENSG00000183862	ENST00000329903	D	0.98987	-5.3	5.36	5.36	0.76844	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.97682	4.055	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.97952	1.0332	10	0.87932	D	0	.	15.3997	0.74830	0.0:0.0:1.0:0.0	.	205	Q16280	CNGA2_HUMAN	F	205	ENSP00000328478:V205F	ENSP00000328478:V205F	V	+	1	0	CNGA2	150662244	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.476000	0.97823	2.229000	0.72834	0.513000	0.50165	GTC	.		0.448	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		T	150911588	G	T	150911588	3	4	31	1	0	0	0	0	1	0	0	0	3604	1261	44	3	635	3	CNGA2	23	150911588	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	20394	150911588	4358972	2482	8034											
CNGA2	1260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	150911921	150911921	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccaaacatcactgaccctGagtatggctacctggctagg	9	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150911921G>T	ENST00000329903.4	+	6	979	c.946G>T	c.(946-948)Gag>Tag	p.E316*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	316					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CACTGACCCTGAGTATGGCTA	0.498																																					p.E316X		.											.	CNGA2-193	0			c.G946T						.						173	163	166					X																	150911921		2203	4300	6503	SO:0001587	stop_gained	1260	exon7			GACCCTGAGTATG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.946G>T	X.37:g.150911921G>T	ENSP00000328478:p.Glu316*	Somatic	296	0		WXS	Illumina GAIIx	Phase_I	319	93	NM_005140	0	0	0	0	0	A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052454	0.75960	.	.	ENSG00000183862	ENST00000329903	.	.	.	4.96	4.06	0.47325	.	0.303196	0.34879	N	0.003620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.2457	0.20815	0.1039:0.1865:0.7096:0.0	.	.	.	.	X	316	.	ENSP00000328478:E316X	E	+	1	0	CNGA2	150662577	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	4.432000	0.59922	0.946000	0.37632	0.529000	0.55759	GAG	.		0.498	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		T	150911921	G	T	150911921	4	4	31	1	0	0	0	0	0	1	0	0	3604	1291	45	3	968	3	CNGA2	23	150911921	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	333	150911921	4358639	2483	8035											
CNGA2	1260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	150912769	150912769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatggaggtcgacgtgcaGgagaagctagggcagctgga	18	7	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150912769G>A	ENST00000329903.4	+	6	1827	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	598					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGACGTGCAGGAGAAGCTAG	0.577																																					p.Q598Q		.											.	CNGA2-193	0			c.G1794A						.						189	146	160					X																	150912769		2203	4300	6503	SO:0001819	synonymous_variant	1260	exon7			CGTGCAGGAGAAG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1794G>A	X.37:g.150912769G>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	172	65	NM_005140	0	0	0	0	0	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																			.		0.577	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912769	G	A	150912769	2	1	31	1	0	0	0	0	0	0	0	1	3604	991	35	3		3	CNGA2	23	150912769	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	848	150912769	4357791	2484	8036											
MAGEA4	4103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	151092271	151092271	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcctcctcctctccTctggtccctggcaccctgga	8	19	3	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:151092271T>A	ENST00000360243.2	+	3	402	c.135T>A	c.(133-135)ccT>ccA	p.P45P	MAGEA4_ENST00000370340.3_Silent_p.P45P|MAGEA4_ENST00000276344.2_Silent_p.P45P|MAGEA4_ENST00000370337.4_Silent_p.P45P|MAGEA4_ENST00000393921.1_Silent_p.P45P|MAGEA4_ENST00000393920.1_Silent_p.P45P|MAGEA4_ENST00000370335.1_Silent_p.P45P	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	45										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCTCCTCTGGTCCCTG	0.627																																					p.P45P		.											.	MAGEA4-194	0			c.T135A						.						60	56	57					X																	151092271		2203	4300	6503	SO:0001819	synonymous_variant	4103	exon3			CTCTCCTCTGGTC		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.135T>A	X.37:g.151092271T>A		Somatic	316	0		WXS	Illumina GAIIx	Phase_I	409	134	NM_001011548	0	0	0	0	0	Q14798	Silent	SNP	ENST00000360243.2	37	CCDS14702.1																																																																																			.		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		A	151092271	T	A	151092271	2	1	31	1	0	0	0	0	0	0	0	1	9204	1538	54	5		5	MAGEA4	23	151092271	Silent	SNP	T	TCGA-OR-A5KB-01A-11D-A30A-10	179502	151092271	4178289	2485	8037											
PNMA5	114824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152159412	152159412	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgcagaaacctaaactgaGaggctctaaagtcctcttta	7	10	3	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152159412G>C	ENST00000439251.1	-	2	1169	c.731C>G	c.(730-732)tCt>tGt	p.S244C	PNMA5_ENST00000535214.1_Missense_Mutation_p.S244C|PNMA5_ENST00000452693.1_Missense_Mutation_p.S244C|PNMA5_ENST00000361887.5_Missense_Mutation_p.S244C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	244					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACTGAGAGGCTCTAAA	0.522																																					p.S244C		.											.	PNMA5-131	0			c.C731G						.						69	67	68					X																	152159412		2203	4300	6503	SO:0001583	missense	114824	exon2			AACTGAGAGGCTC	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.731C>G	X.37:g.152159412G>C	ENSP00000388850:p.Ser244Cys	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	57	25	NM_001103150	0	0	0	0	0	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603712	0.28534	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	2.57	-1.83	0.07833	.	.	.	.	.	T	0.13841	0.0335	L	0.48642	1.525	0.09310	N	1	D	0.59357	0.985	P	0.54706	0.759	T	0.12167	-1.0558	9	0.52906	T	0.07	.	2.7351	0.05238	0.4753:0.0:0.306:0.2187	.	244	Q96PV4	PNMA5_HUMAN	C	244	ENSP00000354834:S244C;ENSP00000445775:S244C;ENSP00000388850:S244C;ENSP00000392342:S244C	ENSP00000354834:S244C	S	-	2	0	PNMA5	151910068	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.272000	0.18644	-0.643000	0.05473	0.292000	0.19580	TCT	.		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		C	152159412	G	C	152159412	3	2	31	1	0	0	0	0	1	0	0	0	12195	942	33	3	619	3	PNMA5	23	152159412	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	1067141	152159412	3111148	2486	8038											
PNMA3	29944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152226512	152226512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggggttggggcagtacCtctccctgcctctggcaaca	12	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152226512C>T	ENST00000370264.4	+	1	1126	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	PNMA3_ENST00000447306.1_Missense_Mutation_p.P367L|PNMA3_ENST00000370265.4_Missense_Mutation_p.P367L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	367					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCAGTACCTCTCCCTGCC	0.632																																					p.P367L		.											.	PNMA3-600	0			c.C1100T						.						26	29	28					X																	152226512		2203	4300	6503	SO:0001583	missense	29944	exon2			CAGTACCTCTCCC	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1100C>T	X.37:g.152226512C>T	ENSP00000359286:p.Pro367Leu	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	179	53	NM_013364	0	0	0	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	4.247	0.044803	0.08196	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.15834	2.39;2.4;2.4	2.06	-0.502	0.12004	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38178	-0.9673	9	0.25751	T	0.34	.	1.7094	0.02889	0.3066:0.3896:0.0:0.3039	.	367	Q9UL41	PNMA3_HUMAN	L	367	ENSP00000359288:P367L;ENSP00000407642:P367L;ENSP00000359286:P367L	ENSP00000359286:P367L	P	+	2	0	PNMA3	151977168	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.082000	0.14847	-0.210000	0.10140	0.464000	0.42555	CCT	.		0.632	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		T	152226512	C	T	152226512	3	4	31	1	0	0	0	0	1	0	0	0	12194	681	24	3	1102	3	PNMA3	23	152226512	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	67100	152226512	3044048	2487	8039											
PNMA3	29944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152226745	152226745	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaagaaacaggctgcagttGagtcgggaaacgggaactgg	16	6	0	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152226745G>C	ENST00000370264.4	+	1	1359	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	PNMA3_ENST00000447306.1_Missense_Mutation_p.E445Q|PNMA3_ENST00000370265.4_Intron			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	445					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCAGTTGAGTCGGGAAA	0.552																																					p.E445Q		.											.	PNMA3-600	0			c.G1333C						.						127	126	126					X																	152226745		2203	4300	6503	SO:0001583	missense	29944	exon2			GCAGTTGAGTCGG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1333G>C	X.37:g.152226745G>C	ENSP00000359286:p.Glu445Gln	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	287	97	NM_013364	0	0	0	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	12.72	2.022836	0.35701	.	.	ENSG00000183837	ENST00000447306;ENST00000370264	T;T	0.16073	2.37;2.37	2.12	1.22	0.21188	.	.	.	.	.	T	0.14056	0.0340	L	0.52573	1.65	0.09310	N	1	B	0.25441	0.126	B	0.20384	0.029	T	0.23833	-1.0177	9	0.35671	T	0.21	.	6.0813	0.19942	0.0:0.3181:0.6819:0.0	.	445	Q9UL41	PNMA3_HUMAN	Q	445	ENSP00000407642:E445Q;ENSP00000359286:E445Q	ENSP00000359286:E445Q	E	+	1	0	PNMA3	151977401	0.170000	0.23016	0.043000	0.18650	0.020000	0.10135	2.273000	0.43381	0.356000	0.24157	0.460000	0.39030	GAG	.		0.552	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		C	152226745	G	C	152226745	3	2	31	1	0	0	0	0	1	0	0	0	12194	1291	45	3	1335	3	PNMA3	23	152226745	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	233	152226745	3043815	2488	8040											
MAGEA1	4100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152482814	152482814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgagtgaagttgatggtaGtgggaaaggcggaggctccc	18	6	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152482814G>T	ENST00000356661.5	-	3	415	c.197C>A	c.(196-198)aCt>aAt	p.T66N		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	66					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)					GTTGATGGTAGTGGGAAAGGC	0.607																																					p.T66N		.											.	MAGEA1-622	0			c.C197A						.						89	92	91					X																	152482814		2203	4300	6503	SO:0001583	missense	4100	exon3			ATGGTAGTGGGAA		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.197C>A	X.37:g.152482814G>T	ENSP00000349085:p.Thr66Asn	Somatic	358	0		WXS	Illumina GAIIx	Phase_I	419	100	NM_004988	0	0	0	0	0	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108787	0.20714	.	.	ENSG00000198681	ENST00000356661	T	0.05649	3.41	1.28	-0.754	0.11065	Melanoma associated antigen, MAGE, N-terminal (1);	1.992610	0.02513	N	0.091704	T	0.21509	0.0518	M	0.84326	2.69	0.09310	N	1	D	0.60575	0.988	P	0.60541	0.876	T	0.11591	-1.0581	10	0.48119	T	0.1	.	3.91	0.09199	0.5294:0.0:0.4706:0.0	.	66	P43355	MAGA1_HUMAN	N	66	ENSP00000349085:T66N	ENSP00000349085:T66N	T	-	2	0	MAGEA1	152136008	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.053000	0.11846	-0.381000	0.07882	0.190000	0.17370	ACT	.		0.607	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		T	152482814	G	T	152482814	3	4	31	1	0	0	0	0	1	0	0	0	9199	1029	36	3	736	3	MAGEA1	23	152482814	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	256069	152482814	2787746	2489	8041											
TREX2	11219	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	152710779	152710779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggttctccagggaggagCggtggacagcaaagagggac	18	9	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152710779C>A	ENST00000334497.2	-	11	1380	c.239G>T	c.(238-240)cGc>cTc	p.R80L	TREX2_ENST00000330912.2_Missense_Mutation_p.R37L|TREX2_ENST00000370231.2_Missense_Mutation_p.R37L|TREX2_ENST00000393862.2_Missense_Mutation_p.R37L|TREX2_ENST00000402951.1_Missense_Mutation_p.R80L|TREX2_ENST00000370232.1_Missense_Mutation_p.R80L|TREX2_ENST00000338525.2_Missense_Mutation_p.R37L|TREX2_ENST00000414588.1_Missense_Mutation_p.R79L|HAUS7_ENST00000484394.1_5'Flank			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	80					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAGGAGCGGTGGACAGC	0.657								Editing and processing nucleases																													p.R37L		.											.	TREX2-227	0			c.G110T						.						41	42	41					X																	152710779		2202	4299	6501	SO:0001583	missense	11219	exon2			GAGGAGCGGTGGA	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.239G>T	X.37:g.152710779C>A	ENSP00000334993:p.Arg80Leu	Somatic	277	1		WXS	Illumina GAIIx	Phase_I	447	156	NM_080701	0	0	0	0	0	Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37		.	.	.	.	.	.	.	.	.	.	C	15.55	2.866097	0.51588	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.04	4.18	0.49190	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.572588	0.14640	U	0.307244	T	0.43678	0.1258	M	0.63428	1.95	0.32341	N	0.559814	D;D	0.76494	0.999;0.996	D;D	0.76575	0.988;0.953	T	0.53272	-0.8462	10	0.72032	D	0.01	0.6256	5.8999	0.18960	0.1883:0.7104:0.0:0.1013	.	79;80	Q06S70;Q9BQ50	.;TREX2_HUMAN	L	37;37;37;80;80;80;79;37	ENSP00000377442:R37L;ENSP00000333441:R37L;ENSP00000345218:R37L;ENSP00000334993:R80L;ENSP00000359252:R80L;ENSP00000386078:R80L;ENSP00000401692:R79L;ENSP00000359251:R37L	ENSP00000333441:R37L	R	-	2	0	TREX2	152363973	0.994000	0.37717	0.959000	0.39883	0.346000	0.29079	2.519000	0.45546	0.913000	0.36797	0.529000	0.55759	CGC	.		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		A	152710779	C	A	152710779	3	1	31	1	0	0	0	0	1	0	0	0	16525	768	27	2	603	2	TREX2	23	152710779	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	227965	152710779	2559781	2490	8042											
ATP2B3	492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	152807877	152807877	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctgaccacgtgcgcaagtCagctgacaaagatcccatgc	10	13	2	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152807877C>A	ENST00000349466.2	+	5	1087	c.761C>A	c.(760-762)tCa>tAa	p.S254*	ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000370186.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.S254*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	254					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGCAAGTCAGCTGACAAA	0.652																																					p.S254X		.											.	ATP2B3-109	0			c.C761A						.						93	63	73					X																	152807877		2203	4300	6503	SO:0001587	stop_gained	492	exon4			GCAAGTCAGCTGA	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.761C>A	X.37:g.152807877C>A	ENSP00000343886:p.Ser254*	Somatic	205	1		WXS	Illumina GAIIx	Phase_I	298	114	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Nonsense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389329	0.99156	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	.	.	.	5.45	5.45	0.79879	.	0.326237	0.28724	N	0.014352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1074	16.9818	0.86329	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000263519:S254X	S	+	2	0	ATP2B3	152461071	0.996000	0.38824	0.891000	0.34965	0.650000	0.38633	7.776000	0.85560	2.273000	0.75805	0.513000	0.50165	TCA	.		0.652	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		A	152807877	C	A	152807877	4	1	31	1	0	0	0	0	0	1	0	0	1142	838	29	3	775	3	ATP2B3	23	152807877	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	97098	152807877	2462683	2491	8043											
ATP2B3	492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	152823605	152823605	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggccaaggaggcctcCgacatcatcctgaccgatga	12	13	1	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152823605C>A	ENST00000349466.2	+	16	2795	c.2469C>A	c.(2467-2469)tcC>tcA	p.S823S	ATP2B3_ENST00000393842.1_Silent_p.S809S|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370186.1_Silent_p.S809S|ATP2B3_ENST00000359149.3_Silent_p.S823S|ATP2B3_ENST00000263519.4_Silent_p.S823S|ATP2B3_ENST00000370181.2_Silent_p.S809S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	823					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGCCTCCGACATCATCC	0.592																																					p.S823S		.											.	ATP2B3-109	0			c.C2469A						.						196	124	148					X																	152823605		2203	4300	6503	SO:0001819	synonymous_variant	492	exon15			GGCCTCCGACATC	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2469C>A	X.37:g.152823605C>A		Somatic	555	2		WXS	Illumina GAIIx	Phase_I	638	220	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																			.		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		A	152823605	C	A	152823605	2	1	31	1	0	0	0	0	0	0	0	1	1142	639	23	2		2	ATP2B3	23	152823605	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	15728	152823605	2446955	2492	8044											
PNCK	139728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152936621	152936621	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcagggtcgctctcgtcGtagaagggggggtacccaca	15	11	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152936621G>T	ENST00000370150.1	-	8	817	c.639C>A	c.(637-639)taC>taA	p.Y213*	PNCK_ENST00000393831.2_Nonsense_Mutation_p.Y236*|PNCK_ENST00000340888.3_Nonsense_Mutation_p.Y213*|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Nonsense_Mutation_p.Y296*|PNCK_ENST00000370145.4_Nonsense_Mutation_p.Y230*|PNCK_ENST00000370142.1_Nonsense_Mutation_p.Y236*			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																																					p.Y296X		.											.	PNCK-207	0			c.C888A						.						55	55	55					X																	152936621		2203	4300	6503	SO:0001587	stop_gained	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>A	X.37:g.152936621G>T	ENSP00000359169:p.Tyr213*	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	103	34	NM_001039582	0	0	0	0	0	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Nonsense_Mutation	SNP	ENST00000370150.1	37		.	.	.	.	.	.	.	.	.	.	g	23.7	4.448350	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	.	.	.	4.14	-1.6	0.08426	.	0.000000	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9523	6.105	0.20069	0.3672:0.1298:0.503:0.0	.	.	.	.	X	213;213;236;236;230;296;213;213	.	ENSP00000340586:Y213X	Y	-	3	2	PNCK	152589815	0.538000	0.26394	0.912000	0.35992	0.886000	0.51366	-0.366000	0.07563	-0.453000	0.07076	0.429000	0.28392	TAC	.		0.592	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		T	152936621	G	T	152936621	4	4	31	1	0	0	0	0	0	1	0	0	12184	1140	40	2	408	2	PNCK	23	152936621	Nonsense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	113016	152936621	2333939	2493	8045											
SLC6A8	6535	hgsc.bcm.edu	37	chrX	152954055	152954055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagagcgccgagaacgGcatctatagcgtgtccggcg	15	10	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152954055G>A	ENST00000253122.5	+	1	502	c.26G>A	c.(25-27)gGc>gAc	p.G9D	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	9					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCGAGAACGGCATCTATAGC	0.786																																					p.G9D		.											.	SLC6A8-131	0			c.G26A						.						2	1	1					X																	152954055		744	1011	1755	SO:0001583	missense	6535	exon1			AGAACGGCATCTA		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.26G>A	X.37:g.152954055G>A	ENSP00000253122:p.Gly9Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_005629	0	0	0	0	0	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	N	15.32	2.799892	0.50208	.	.	ENSG00000130821	ENST00000253122	T	0.74209	-0.82	2.6	2.6	0.31112	.	.	.	.	.	T	0.49575	0.1565	N	0.08118	0	0.80722	D	1	P;P	0.52842	0.956;0.956	B;B	0.39465	0.3;0.3	T	0.45659	-0.9246	9	0.26408	T	0.33	.	10.1826	0.42977	0.0:0.0:1.0:0.0	.	28;9	Q59EV7;P48029	.;SC6A8_HUMAN	D	9	ENSP00000253122:G9D	ENSP00000253122:G9D	G	+	2	0	SLC6A8	152607249	0.725000	0.28048	0.988000	0.46212	0.501000	0.33797	0.761000	0.26489	1.181000	0.42912	0.266000	0.19312	GGC	.		0.786	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			A	152954055	G	A	152954055	3	1	31	1	0	0	0	0	1	0	0	0	14735	1203	42	3	28	3	SLC6A8	23	152954055	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	17434	152954055	2316505	2494	8046											
SLC6A8	6535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152958807	152958807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctacaaccgcttcaaCaacaactgctacaagtaagc	7	13	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152958807C>A	ENST00000253122.5	+	6	1478	c.1002C>A	c.(1000-1002)aaC>aaA	p.N334K	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.N219K	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	334					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACCGCTTCAACAACAACTGCT	0.627																																					p.N334K		.											.	SLC6A8-131	0			c.C1002A						.						49	51	50					X																	152958807		2203	4300	6503	SO:0001583	missense	6535	exon6			CTTCAACAACAAC		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1002C>A	X.37:g.152958807C>A	ENSP00000253122:p.Asn334Lys	Somatic	269	0		WXS	Illumina GAIIx	Phase_I	361	121	NM_005629	0	0	0	0	0	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	14.99|14.99|14.99	2.699897|2.699897|2.699897	0.48307|0.48307|0.48307	.|.|.	.|.|.	ENSG00000130821|ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897|ENST00000413787|ENST00000442457	T;T|T|.	0.73047|0.72615|.	-0.71;-0.71|-0.67|.	4.96|4.96|4.96	4.96|4.96|4.96	0.65561|0.65561|0.65561	.|.|.	0.000000|.|.	0.85682|.|.	U|.|.	0.000000|.|.	T|T|T	0.51261|0.51261|0.51261	0.1664|0.1664|0.1664	N|N|N	0.20530|0.20530|0.20530	0.585|0.585|0.585	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	B;B|.|.	0.33212|.|.	0.402;0.08|.|.	B;B|.|.	0.31390|.|.	0.129;0.088|.|.	T|T|T	0.47761|0.47761|0.47761	-0.9092|-0.9092|-0.9092	10|6|5	0.25106|.|.	T|.|.	0.35|.|.	.|.|.	16.0441|16.0441|16.0441	0.80707|0.80707|0.80707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	353;334|.|.	Q59EV7;P48029|.|.	.;SC6A8_HUMAN|.|.	K|K|K	334;219;340|50|29	ENSP00000253122:N334K;ENSP00000403041:N219K|ENSP00000400463:Q50K|.	ENSP00000253122:N334K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	SLC6A8|SLC6A8|SLC6A8	152612001|152612001|152612001	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.431000|1.431000|1.431000	0.34925|0.34925|0.34925	2.304000|2.304000|2.304000	0.77564|0.77564|0.77564	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	AAC|CAA|ACA	.		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			A	152958807	C	A	152958807	3	1	31	1	0	0	0	0	1	0	0	0	14735	477	17	3	1024	3	SLC6A8	23	152958807	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	4752	152958807	2311753	2495	8047											
PLXNB3	5365	hgsc.bcm.edu	37	chrX	153033266	153033266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgccagcatggagcaGgcccggagactctgctacac	14	13	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153033266G>C	ENST00000361971.5	+	3	1098	c.984G>C	c.(982-984)caG>caC	p.Q328H	PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q351H|PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	328	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					GCATGGAGCAGGCCCGGAGAC	0.736																																					p.Q351H		.											.	PLXNB3-130	0			c.G1053C						.						7	6	6					X																	153033266		2055	4014	6069	SO:0001583	missense	5365	exon4			GGAGCAGGCCCGG	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.984G>C	X.37:g.153033266G>C	ENSP00000355378:p.Gln328His	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	81	27	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	1.251	-0.618588	0.03663	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.10477	2.87;2.87	4.9	-7.8	0.01214	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.816100	0.02680	N	0.109525	T	0.07188	0.0182	L	0.38175	1.15	0.18873	N	0.999986	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.001;0.003;0.004	T	0.22941	-1.0202	10	0.42905	T	0.14	.	1.7378	0.02945	0.3249:0.3483:0.1494:0.1775	.	10;351;328	B7Z9A5;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	351;328	ENSP00000442736:Q351H;ENSP00000355378:Q328H	ENSP00000355378:Q328H	Q	+	3	2	PLXNB3	152686460	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.838000	0.01687	-2.226000	0.00723	-1.209000	0.01634	CAG	.		0.736	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			C	153033266	G	C	153033266	3	2	31	1	0	0	0	0	1	0	0	0	12164	991	35	3	1108	3	PLXNB3	23	153033266	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	74459	153033266	2237294	2496	8048											
PLXNB3	5365	ucsc.edu;bcgsc.ca	37	chrX	153035684	153035684	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctccccaagaccaggtgccActtaaccctccaggcacagg	8	18	0	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153035684A>T	ENST00000361971.5	+	8	1881	c.1767A>T	c.(1765-1767)ccA>ccT	p.P589P	PLXNB3_ENST00000538776.1_Silent_p.P242P|PLXNB3_ENST00000538543.1_Silent_p.P139P|PLXNB3_ENST00000538966.1_Silent_p.P612P|PLXNB3_ENST00000538282.1_Silent_p.P199P	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	589					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)					ACCAGGTGCCACTTAACCCTC	0.617																																					p.P612P		.											.	PLXNB3-130	0			c.A1836T						.						62	55	57					X																	153035684		2200	4298	6498	SO:0001819	synonymous_variant	5365	exon9			GGTGCCACTTAAC	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.1767A>T	X.37:g.153035684A>T		Somatic	145	2		WXS	Illumina GAIIx	Phase_I	152	50	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			.		0.617	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153035684	A	T	153035684	2	4	31	1	0	0	0	0	0	0	0	1	12164	146	6	5		5	PLXNB3	23	153035684	Silent	SNP	A	TCGA-OR-A5KB-01A-11D-A30A-10	2418	153035684	2234876	2497	8049											
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	153036070	153036070	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcactgcccagagggCgagaggaccatctacagcgc	15	12	1	3	rs143446986		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153036070C>A	ENST00000361971.5	+	10	2097	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	PLXNB3_ENST00000538776.1_Silent_p.G314G|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.G684G|PLXNB3_ENST00000538282.1_Silent_p.G271G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	661	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGAGGGCGAGAGGACCA	0.667																																					p.G684G		.											.	PLXNB3-130	0			c.C2052A						.						38	30	33					X																	153036070		2193	4293	6486	SO:0001819	synonymous_variant	5365	exon11			AGAGGGCGAGAGG	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.1983C>A	X.37:g.153036070C>A		Somatic	240	1		WXS	Illumina GAIIx	Phase_I	301	97	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			C|1.000;T|0.000		0.667	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153036070	C	A	153036070	2	1	31	1	0	0	0	0	0	0	0	1	12164	755	27	2		2	PLXNB3	23	153036070	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	386	153036070	2234490	2498	8050											
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153036423	153036423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcgtccttccccagggcCtgcctgcctccttccactgc	8	20	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153036423C>A	ENST00000361971.5	+	12	2254	c.2140C>A	c.(2140-2142)Ctg>Atg	p.L714M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.L367M|PLXNB3_ENST00000538543.1_Silent_p.A183A|PLXNB3_ENST00000538966.1_Missense_Mutation_p.L737M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L324M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	714					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)					TCCCCAGGGCCTGCCTGCCTC	0.632																																					p.L737M		.											.	PLXNB3-130	0			c.C2209A						.						82	66	72					X																	153036423		2202	4298	6500	SO:0001583	missense	5365	exon13			CAGGGCCTGCCTG	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.2140C>A	X.37:g.153036423C>A	ENSP00000355378:p.Leu714Met	Somatic	263	1		WXS	Illumina GAIIx	Phase_I	333	119	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	c	7.862	0.726202	0.15439	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68331	5.24;5.2;4.62;-0.32	5.31	2.2	0.27929	.	0.733977	0.12636	N	0.451749	T	0.56441	0.1985	L	0.51422	1.61	0.09310	N	1	B;P;B;B	0.41748	0.011;0.761;0.035;0.011	B;B;B;B	0.35971	0.017;0.215;0.062;0.028	T	0.40136	-0.9579	10	0.48119	T	0.1	.	9.5141	0.39095	0.1269:0.7078:0.0:0.1654	.	367;396;737;714	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	737;714;367;324	ENSP00000442736:L737M;ENSP00000355378:L714M;ENSP00000445569:L367M;ENSP00000441919:L324M	ENSP00000355378:L714M	L	+	1	2	PLXNB3	152689617	0.000000	0.05858	0.831000	0.32960	0.034000	0.12701	0.069000	0.14552	0.117000	0.18138	-1.711000	0.00714	CTG	.		0.632	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153036423	C	A	153036423	3	1	31	1	0	0	0	0	1	0	0	0	12164	680	24	3	2300	3	PLXNB3	23	153036423	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	353	153036423	2234137	2499	8051											
PLXNB3	5365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153042416	153042416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcccagagcctggcccaGaggtgccccttgggagagag	14	13	1	3			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153042416G>T	ENST00000361971.5	+	29	5022	c.4908G>T	c.(4906-4908)caG>caT	p.Q1636H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q1289H|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q1659H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1636					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)					GCCTGGCCCAGAGGTGCCCCT	0.662																																					p.Q1659H		.											.	PLXNB3-130	0			c.G4977T						.						36	34	34					X																	153042416		2190	4292	6482	SO:0001583	missense	5365	exon30			GGCCCAGAGGTGC	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.4908G>T	X.37:g.153042416G>T	ENSP00000355378:p.Gln1636His	Somatic	311	0		WXS	Illumina GAIIx	Phase_I	330	128	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.856|3.856	-0.030818|-0.030818	0.07543|0.07543	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000455214|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.12039	.|2.72;2.72;2.72	4.92|4.92	0.777|0.777	0.18538|0.18538	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|1.763170	.|0.02904	.|N	.|0.135858	.|T	.|0.13586	.|0.0329	N|N	0.17764|0.17764	0.52|0.52	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;B	.|0.17038	.|0.014;0.02;0.005	.|B;B;B	.|0.18263	.|0.021;0.012;0.021	.|T	.|0.32561	.|-0.9902	.|10	.|0.29301	.|T	.|0.29	.|.	17.3085|17.3085	0.87202|0.87202	0.0:0.6738:0.3262:0.0|0.0:0.6738:0.3262:0.0	.|.	.|1289;1659;1636	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	X|H	140|1659;1636;1289	.|ENSP00000442736:Q1659H;ENSP00000355378:Q1636H;ENSP00000445569:Q1289H	.|ENSP00000355378:Q1636H	E|Q	+|+	1|3	0|2	PLXNB3|PLXNB3	152695610|152695610	0.989000|0.989000	0.36119|0.36119	0.033000|0.033000	0.17914|0.17914	0.059000|0.059000	0.15707|0.15707	0.520000|0.520000	0.22878|0.22878	-0.200000|-0.200000	0.10300|0.10300	-0.347000|-0.347000	0.07816|0.07816	GAG|CAG	.		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			T	153042416	G	T	153042416	3	4	31	1	0	0	0	0	1	0	0	0	12164	933	33	3	5136	3	PLXNB3	23	153042416	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	5993	153042416	2228144	2500	8052											
IDH3G	3421	ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153055722	153055722	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatcatggtcaccgtgtgcCgcccgccatacttagcggac	12	14	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153055722C>G	ENST00000217901.5	-	4	357	c.161G>C	c.(160-162)cGg>cCg	p.R54P	IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.R54P|IDH3G_ENST00000370092.3_Missense_Mutation_p.R54P|IDH3G_ENST00000497043.1_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	54					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	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)					CACCGTGTGCCGCCCGCCATA	0.652																																					p.R54P		.											.	IDH3G-90	0			c.G161C						.						60	47	51					X																	153055722		2202	4300	6502	SO:0001583	missense	3421	exon4			GTGTGCCGCCCGC		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.161G>C	X.37:g.153055722C>G	ENSP00000217901:p.Arg54Pro	Somatic	309	1		WXS	Illumina GAIIx	Phase_I	311	82	NM_004135	0	0	0	0	0	E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737740	0.69304	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000444450	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.02	5.02	0.67125	Isopropylmalate dehydrogenase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.74023	0.982;0.889	T	0.52525	-0.8564	10	0.19147	T	0.46	.	16.2199	0.82254	0.0:1.0:0.0:0.0	.	54;54	E9PDD5;P51553	.;IDH3G_HUMAN	P	54;54;54;31	ENSP00000359110:R54P;ENSP00000217901:R54P;ENSP00000359111:R54P;ENSP00000401862:R31P	ENSP00000217901:R54P	R	-	2	0	IDH3G	152708916	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.670000	0.68088	2.081000	0.62600	0.529000	0.55759	CGG	.		0.652	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			G	153055722	C	G	153055722	3	3	31	1	0	0	0	0	1	0	0	0	7525	652	23	2	1123	2	IDH3G	23	153055722	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	13306	153055722	2214838	2501	8053											
L1CAM	3897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153133825	153133825	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgctgggctgcaaggaGgggtcaaaggaggcctggca	19	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153133825G>T	ENST00000370060.1	-	14	1824	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	L1CAM_ENST00000370057.3_Silent_p.P545P|L1CAM_ENST00000538883.1_Silent_p.P547P|L1CAM_ENST00000543994.1_Silent_p.P547P|L1CAM_ENST00000361981.3_Silent_p.P540P|L1CAM_ENST00000361699.4_Silent_p.P545P|L1CAM_ENST00000370055.1_Silent_p.P540P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	545	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGGAGGGGTCAAAGG	0.597																																					p.P545P		.											.	L1CAM-138	0			c.C1635A						.						139	143	142					X																	153133825		2203	4300	6503	SO:0001819	synonymous_variant	3897	exon13			CAAGGAGGGGTCA	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1635C>A	X.37:g.153133825G>T		Somatic	270	0		WXS	Illumina GAIIx	Phase_I	318	123	NM_000425	0	0	0	0	0	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402063	0.25291	.	.	ENSG00000198910	ENST00000455590	T	0.74421	-0.84	5.62	0.343	0.16001	.	0.096985	0.43919	D	0.000509	T	0.65048	0.2654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	6	.	.	.	.	1.9739	0.03412	0.1615:0.13:0.438:0.2705	.	.	.	.	H	3	ENSP00000397792:P3H	.	P	-	2	0	L1CAM	152787019	0.992000	0.36948	0.994000	0.49952	0.993000	0.82548	0.075000	0.14686	-0.071000	0.12886	-0.297000	0.09499	CCT	.		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153133825	G	T	153133825	2	4	31	1	0	0	0	0	0	0	0	1	8616	987	35	3		3	L1CAM	23	153133825	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	78103	153133825	2136735	2502	8054											
HCFC1	3054	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	153220099	153220099	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacaggtgccatgcggggctCcccagcacccacgctggaac	12	17	0	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153220099C>A	ENST00000310441.7	-	17	4717	c.3751G>T	c.(3751-3753)Gag>Tag	p.E1251*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1251*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1182*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1251					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCGGGGCTCCCCAGCACCC	0.677																																					p.E1251X		.											.	HCFC1-132	0			c.G3751T						.						18	20	19					X																	153220099		2022	4144	6166	SO:0001587	stop_gained	3054	exon17			GGGGCTCCCCAGC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3751G>T	X.37:g.153220099C>A	ENSP00000309555:p.Glu1251*	Somatic	42	1		WXS	Illumina GAIIx	Phase_I	147	59	NM_005334	0	0	0	0	0	Q6P4G5	Nonsense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	c	43	10.013914	0.99318	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	.	.	.	4.46	4.46	0.54185	.	0.761678	0.12152	N	0.494772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	11.6981	0.51554	0.0:0.8241:0.1759:0.0	.	.	.	.	X	1251;1251;1182	.	ENSP00000309555:E1251X	E	-	1	0	HCFC1	152873293	0.240000	0.23847	0.591000	0.28745	0.142000	0.21351	1.566000	0.36396	1.815000	0.52974	0.525000	0.51046	GAG	.		0.677	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153220099	C	A	153220099	4	1	31	1	0	0	0	0	0	1	0	0	7018	864	30	3	2396	3	HCFC1	23	153220099	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	86274	153220099	2050461	2503	8055											
HCFC1	3054	ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153222835	153222835	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggtggtcgtgccgggcttGgtggtactgggggagacgct	20	7	0	1	rs2071134	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153222835G>C	ENST00000310441.7	-	13	3249	c.2283C>G	c.(2281-2283)acC>acG	p.T761T	HCFC1_ENST00000369984.4_Silent_p.T761T|HCFC1_ENST00000354233.3_Silent_p.T692T|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	761	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCGGGCTTGGTGGTACTGG	0.642													G|||	1450	0.384106	0.0461	0.3545	3775	,	,		13235	0.5784		0.1223	False		,,,				2504	0.4468				p.T761T		.											.	HCFC1-132	0			c.C2283G						.	G		249,3481		9,186,45,1385,525	116	126	122		2283	4.1	1	X	dbSNP_96	122	947,5648		43,588,273,1757,1546	no	coding-synonymous	HCFC1	NM_005334.2		52,774,318,3142,2071	CC,CG,C,GG,G		14.3594,6.6756,11.5835		761/2036	153222835	1196,9129	2150	4207	6357	SO:0001819	synonymous_variant	3054	exon13			GGGCTTGGTGGTA		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2283C>G	X.37:g.153222835G>C		Somatic	233	0		WXS	Illumina GAIIx	Phase_I	188	57	NM_005334	0	0	0	0	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																			G|0.666;C|0.334		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153222835	G	C	153222835	2	2	31	1	0	0	0	0	0	0	0	1	7018	1335	47	3		3	HCFC1	23	153222835	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	2736	153222835	2047725	2504	8056											
SLC10A3	8273	ucsc.edu;bcgsc.ca	37	chrX	153716005	153716005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccaaggccagcaggctGttctgcacccctacctcaat	9	15	2	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153716005G>T	ENST00000393587.4	-	3	1538	c.1275C>A	c.(1273-1275)aaC>aaA	p.N425K	SLC10A3_ENST00000369649.4_Missense_Mutation_p.N396K|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.N480K|SLC10A3_ENST00000263512.4_Missense_Mutation_p.N425K|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	425					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGCAGGCTGTTCTGCACCC	0.652																																					p.N425K		.											.	SLC10A3-132	0			c.C1275A						.						59	48	52					X																	153716005		2203	4300	6503	SO:0001583	missense	8273	exon3			CAGGCTGTTCTGC	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1275C>A	X.37:g.153716005G>T	ENSP00000377212:p.Asn425Lys	Somatic	422	2		WXS	Illumina GAIIx	Phase_I	445	174	NM_001142392	0	0	0	0	0	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556144	0.86231	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.26660	2.03;1.72;1.73;1.73	5.4	5.4	0.78164	.	0.000000	0.85682	U	0.000000	T	0.62925	0.2468	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74393	-0.3680	10	0.87932	D	0	-21.9698	16.8689	0.86036	0.0:0.0:1.0:0.0	.	396;425	Q9BSL2;P09131	.;P3_HUMAN	K	396;480;425;425	ENSP00000358663:N396K;ENSP00000377211:N480K;ENSP00000263512:N425K;ENSP00000377212:N425K	ENSP00000263512:N425K	N	-	3	2	SLC10A3	153369199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.697000	0.74603	2.244000	0.73946	0.513000	0.50165	AAC	.		0.652	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		T	153716005	G	T	153716005	3	4	31	1	0	0	0	0	1	0	0	0	14420	1368	48	3	162	3	SLC10A3	23	153716005	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	493170	153716005	1554555	2505	8057											
G6PD	2539	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153762677	153762677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagctctgcaggtccctccCgaagggcttctccacgatga	11	14	2	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153762677C>G	ENST00000393564.2	-	6	632	c.520G>C	c.(520-522)Ggg>Cgg	p.G174R	G6PD_ENST00000369620.2_Missense_Mutation_p.G174R|G6PD_ENST00000393562.2_Missense_Mutation_p.G204R|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	174					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTCCCTCCCGAAGGGCTTC	0.617																																					p.G204R		.											.	G6PD-135	0			c.G610C						.						81	68	73					X																	153762677		2203	4300	6503	SO:0001583	missense	2539	exon6			CCCTCCCGAAGGG	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.520G>C	X.37:g.153762677C>G	ENSP00000377194:p.Gly174Arg	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	164	72	NM_000402	0	0	0	0	0	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035019	0.75617	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.65	4.79	0.61399	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96312	0.9229	10	0.87932	D	0	.	11.3761	0.49728	0.0:0.9102:0.0:0.0898	.	174;204	P11413;P11413-3	G6PD_HUMAN;.	R	204;174;174;174;175;175;174	ENSP00000377192:G204R;ENSP00000377194:G174R;ENSP00000358633:G174R;ENSP00000395599:G175R;ENSP00000400648:G175R;ENSP00000394690:G174R	ENSP00000291567:G174R	G	-	1	0	G6PD	153415871	1.000000	0.71417	0.956000	0.39512	0.683000	0.39861	7.518000	0.81795	1.146000	0.42352	-0.322000	0.08575	GGG	.		0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		G	153762677	C	G	153762677	3	3	31	1	0	0	0	0	1	0	0	0	6170	652	23	2	1059	2	G6PD	23	153762677	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	46672	153762677	1507883	2506	8058											
GAB3	139716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153927602	153927602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgagatctctattcactgGgggaggttccaggtttgcag	13	8	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153927602G>T	ENST00000369575.3	-	6	1340	c.1309C>A	c.(1309-1311)Cca>Aca	p.P437T	GAB3_ENST00000424127.2_Missense_Mutation_p.P438T|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	437					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTATTCACTGGGGGAGGTTCC	0.537																																					p.P438T		.											.	GAB3-227	0			c.C1312A						.						141	135	137					X																	153927602		2203	4300	6503	SO:0001583	missense	139716	exon6			TCACTGGGGGAGG	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1309C>A	X.37:g.153927602G>T	ENSP00000358588:p.Pro437Thr	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	172	65	NM_001081573	0	0	0	0	0	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961546	0.74016	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.39787	1.06;1.06;1.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.87758	2.905	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.75271	-0.3376	10	0.72032	D	0.01	-18.9742	16.3807	0.83460	0.0:0.0:1.0:0.0	.	438;438;437	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	T	437;438;438	ENSP00000358588:P437T;ENSP00000358581:P438T;ENSP00000399588:P438T	ENSP00000358581:P438T	P	-	1	0	GAB3	153580796	1.000000	0.71417	0.697000	0.30258	0.935000	0.57460	6.611000	0.74183	2.474000	0.83562	0.529000	0.55759	CCA	.		0.537	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		T	153927602	G	T	153927602	3	4	31	1	0	0	0	0	1	0	0	0	6174	1232	43	3	471	3	GAB3	23	153927602	Missense_Mutation	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	164925	153927602	1342958	2507	8059											
DKC1	1736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	154001499	154001499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggagagagacacttaccCtcggaagtggggtttaggtc	14	8	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154001499C>A	ENST00000369550.5	+	11	1340	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	377					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACACTTACCCTCGGAAGTGG	0.413									Congenital Dyskeratosis																												p.P377H		.											.	DKC1-227	0			c.C1130A						.						90	76	81					X																	154001499		2203	4300	6503	SO:0001583	missense	1736	exon11	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	CTTACCCTCGGAA	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1130C>A	X.37:g.154001499C>A	ENSP00000358563:p.Pro377His	Somatic	454	0		WXS	Illumina GAIIx	Phase_I	588	237	NM_001363	0	0	0	0	0	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601127	0.87055	.	.	ENSG00000130826	ENST00000369550	D	0.96427	-4.01	5.5	5.5	0.81552	PUA-like domain (1);	0.049756	0.85682	D	0.000000	D	0.98327	0.9445	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	D	0.99486	1.0949	10	0.87932	D	0	-15.7838	16.9591	0.86267	0.0:1.0:0.0:0.0	.	377;377	A8MUT5;O60832	.;DKC1_HUMAN	H	377	ENSP00000358563:P377H	ENSP00000358563:P377H	P	+	2	0	DKC1	153654693	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.405000	0.80007	2.317000	0.78254	0.600000	0.82982	CCT	.		0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		A	154001499	C	A	154001499	3	1	31	1	0	0	0	0	1	0	0	0	4556	681	24	3	1172	3	DKC1	23	154001499	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	73897	154001499	1269061	2508	8060											
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	154157538	154157538	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttggaagcaattcaactttGccagatgttttgggcaagtc	10	7	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154157538G>C	ENST00000360256.4	-	14	4727	c.4527C>G	c.(4525-4527)ggC>ggG	p.G1509G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1509	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTCAACTTTGCCAGATGTTT	0.473																																					p.G1509G		.											.	F8-182	0			c.C4527G						.						87	82	84					X																	154157538		2203	4300	6503	SO:0001819	synonymous_variant	2157	exon14			AACTTTGCCAGAT	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.4527C>G	X.37:g.154157538G>C		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	103	35	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			.		0.473	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			C	154157538	G	C	154157538	2	2	31	1	0	0	0	0	0	0	0	1	5366	1306	46	3		3	F8	23	154157538	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	156039	154157538	1113022	2509	8061											
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	154158316	154158316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctacattttgcctagtgCtcagtaagaaaaggttcttc	7	9	3	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154158316C>A	ENST00000360256.4	-	14	3949	c.3749G>T	c.(3748-3750)aGc>aTc	p.S1250I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1250	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCCTAGTGCTCAGTAAGAA	0.353																																					p.S1250I		.											.	F8-182	0			c.G3749T						.						71	61	64					X																	154158316		2203	4300	6503	SO:0001583	missense	2157	exon14			CTAGTGCTCAGTA	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.3749G>T	X.37:g.154158316C>A	ENSP00000353393:p.Ser1250Ile	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	64	26	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	10.68	1.418492	0.25552	.	.	ENSG00000185010	ENST00000360256	D	0.99519	-6.07	5.72	3.9	0.45041	.	0.528580	0.22190	N	0.063396	D	0.98169	0.9395	M	0.67953	2.075	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	D	0.96408	0.9302	10	0.52906	T	0.07	-1.3352	6.7663	0.23568	0.1737:0.7321:0.0:0.0941	.	1250	P00451	FA8_HUMAN	I	1250	ENSP00000353393:S1250I	ENSP00000353393:S1250I	S	-	2	0	F8	153811510	0.370000	0.25047	0.026000	0.17262	0.924000	0.55760	0.191000	0.17076	1.152000	0.42452	0.597000	0.82753	AGC	.		0.353	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154158316	C	A	154158316	3	1	31	1	0	0	0	0	1	0	0	0	5366	797	28	3	3386	3	F8	23	154158316	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	778	154158316	1112244	2510	8062											
F8	2157	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	154176151	154176151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcaaacaaactgacaaCtgcaaactatcaaaaacata	3	10	2	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154176151C>T	ENST00000360256.4	-	13	2135	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	645	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACTGACAACTGCAAACTAT	0.383																																					p.Q645Q		.											.	F8-182	0			c.G1935A						.						135	106	116					X																	154176151		2203	4300	6503	SO:0001819	synonymous_variant	2157	exon13			TGACAACTGCAAA	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.1935G>A	X.37:g.154176151C>T		Somatic	133	2		WXS	Illumina GAIIx	Phase_I	182	75	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			.		0.383	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154176151	C	T	154176151	2	4	31	1	0	0	0	0	0	0	0	1	5366	564	20	3		3	F8	23	154176151	Silent	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	17835	154176151	1094409	2511	8063											
MTCP1	4515	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	154294183	154294183	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaatgtaaacagttacctCttccacgacggccacccacg	6	15	1	0			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154294183C>A	ENST00000369476.3	-	2	682	c.103G>T	c.(103-105)Gag>Tag	p.E35*	MTCP1_ENST00000362018.2_Nonsense_Mutation_p.E35*|CMC4_ENST00000369484.3_Intron|CMC4_ENST00000369479.1_5'Flank|MTCP1_ENST00000482244.1_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	35					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGTTACCTCTTCCACGACG	0.463			T	TRA@	T cell prolymphocytic leukemia																																p.E35X		.		Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	.	MTCP1-658	0			c.G103T						.						74	72	73					X																	154294183		1886	4103	5989	SO:0001587	stop_gained	4515	exon2			TTACCTCTTCCAC		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.103G>T	X.37:g.154294183C>A	ENSP00000358488:p.Glu35*	Somatic	70	3		WXS	Illumina GAIIx	Phase_I	81	28	NM_001018025	0	0	0	0	0	Q5HYP2	Nonsense_Mutation	SNP	ENST00000369476.3	37	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433732	0.96150	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	.	.	.	5.66	4.79	0.61399	.	0.307855	0.27981	N	0.017078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.7047	12.9219	0.58237	0.0:0.8413:0.1587:0.0	.	.	.	.	X	35	.	ENSP00000355058:E35X	E	-	1	0	MTCP1	153947377	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.213000	0.51153	1.260000	0.44134	0.600000	0.82982	GAG	.		0.463	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		A	154294183	C	A	154294183	4	1	31	1	0	0	0	0	0	1	0	0	9953	922	32	3	232	3	MTCP1	23	154294183	Nonsense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	118032	154294183	976377	2512	8064											
IL9R	3581	ucsc.edu;bcgsc.ca	37	chrX	155235035	155235035	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatccatgaggccaggctGcgtgtccagatggccacact	11	12	0	2			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155235035G>T	ENST00000244174.5	+	6	851	c.672G>T	c.(670-672)ctG>ctT	p.L224L	IL9R_ENST00000369423.2_Silent_p.L259L|IL9R_ENST00000540897.1_Silent_p.L249L|IL9R_ENST00000424344.3_Silent_p.L203L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	224	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)					AGGCCAGGCTGCGTGTCCAGA	0.592																																					p.L259L		.											.	IL9R-40	0			c.G777T						.						128	114	119					X																	155235035		2203	4296	6499	SO:0001819	synonymous_variant	3581	exon7			CAGGCTGCGTGTC	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.672G>T	X.37:g.155235035G>T		Somatic	550	4		WXS	Illumina GAIIx	Phase_I	684	245	NM_176786	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	ENST00000244174.5	37	CCDS14771.4																																																																																			.		0.592	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		T	155235035	G	T	155235035	2	4	31	1	0	0	0	0	0	0	0	1	7735	1306	46	3		3	IL9R	23	155235035	Silent	SNP	G	TCGA-OR-A5KB-01A-11D-A30A-10	940852	155235035	35525	2513	8065											
IL9R	3581	broad.mit.edu;bcgsc.ca	37	chrX	155239857	155239858	+	Missense_Mutation	DNP	GG	GG	TT													ctgtgccttgggctgctatgGgggatggcacctctcagccc							TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155239857_155239858GG>TT	ENST00000244174.5	+	9	1528_1529	c.1349_1350GG>TT	c.(1348-1350)gGG>gTT	p.G450V	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.G429V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	450					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)			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)					GGCTGCTATGGGGGATGGCACC	0.629																																					p.G450V		.											.	IL9R-40	0			c.G1350T						.																																			SO:0001583	missense	3581	exon9			CTATGGGGGATGG	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	Exception_encountered	X.37:g.155239857_155239858delinsTT	ENSP00000244174:p.Gly450Val	Somatic	336	0		WXS	Illumina GAIIx	Phase_I	360	20	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	DNP	ENST00000244174.5	37	CCDS14771.4																																																																																			.		0.629	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		TT	155239858	GG	TT	155239857	3	4	31	1	0	0	0	0	1	0	0	0	7735	1232	43	3	1383	3	IL9R	23	155239857	Missense_Mutation	DNP	GG	TCGA-OR-A5KB-01A-11D-A30A-10	4822	155239857	30703	2514	8066											
IL9R	3581	bcgsc.ca	37	chrX	155239892	155239892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccctcccaggaaacacaCagagctctgggcccatccca	8	18	1	1			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155239892C>A	ENST00000244174.5	+	9	1563	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.Q441K	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	462					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)			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)					AGGAAACACACAGAGCTCTGG	0.617																																					p.Q462K		.											.	IL9R-40	0			c.C1384A						.						5	7	6					X																	155239892		1736	3630	5366	SO:0001583	missense	3581	exon9			AACACACAGAGCT	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.1384C>A	X.37:g.155239892C>A	ENSP00000244174:p.Gln462Lys	Somatic	336	1		WXS	Illumina GAIIx	Phase_I	332	65	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	0.662	-0.805317	0.02819	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10288	2.89;2.89	1.44	1.44	0.22558	.	3.823050	0.00857	N	0.001881	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.29552	0.248	B	0.26202	0.067	T	0.33420	-0.9869	9	0.02654	T	1	-5.0911	5.8372	0.18613	0.0:1.0:0.0:0.0	.	462	Q01113	IL9R_HUMAN	K	462;441	ENSP00000244174:Q462K;ENSP00000388918:Q441K	ENSP00000244174:Q462K	Q	+	1	0	IL9R	154893086	0.005000	0.15991	0.006000	0.13384	0.005000	0.04900	0.816000	0.27267	1.015000	0.39444	0.287000	0.19450	CAG	.		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		A	155239892	C	A	155239892	3	1	31	1	0	0	0	0	1	0	0	0	7735	479	17	3	1418	3	IL9R	23	155239892	Missense_Mutation	SNP	C	TCGA-OR-A5KB-01A-11D-A30A-10	35	155239892	30668	2515	8067											
PRAMEF1	65121	bcgsc.ca	37	chr1	12855598	12855599	+	Missense_Mutation	DNP	AC	AC	TG													tctccacaggtgcctccagaAccccttggagaacttggaat					rs201576054|rs200964387	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:12855598_12855599AC>TG	ENST00000332296.7	+	4	981_982	c.878_879AC>TG	c.(877-879)aAC>aTG	p.N293M	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N48M	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	293					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCCAGAACCCCTTGGAGA	0.455																																					p.N293M		.											.	PRAMEF1-22	0			c.C879G						.																																			SO:0001583	missense	65121	exon4			CCAGAACCCCTTG	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	Exception_encountered	1.37:g.12855598_12855599delinsTG	ENSP00000332134:p.Asn293Met	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	24	0	NM_023013	0	0	0	0	0	Q9UQP2	Missense_Mutation	DNP	ENST00000332296.7	37	CCDS148.1																																																																																			.		0.455	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		TG	12855599	AC	TG	12855598	3	4	32	1	0	0	0	0	1	0	0	0	12467	43	2	5	888	5	PRAMEF1	1	12855598	Missense_Mutation	DNP	AC	TCGA-OR-A5KO-01A-11D-A29I-10		12855598	236395023	1	8068											
PRAMEF11	440560	ucsc.edu;bcgsc.ca	37	chr1	12884981	12884981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaccataactttccTgcggggcaggatacagctcc	9	14	1	0	rs4989318	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:12884981T>C	ENST00000535591.1	-	4	1325	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	377					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(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATAACTTTCCTGCGGGGCAGG	0.507													.|||	76	0.0151757	8e-04	0.0231	5008	,	,		22853	0.003		0.0507	False		,,,				2504	0.0051				p.Q377R		.											.	.	0			c.A1130G						.	C	ARG/GLN	9,1375		0,9,683	96	71	78		1130	-1.2	0	1	dbSNP_113	78	165,3015		10,145,1435	no	missense	PRAMEF11	NM_001146344.1	43	10,154,2118	CC,CT,TT		5.1887,0.6503,3.8124	benign	377/437	12884981	174,4390	692	1590	2282	SO:0001583	missense	440560	exon4			CTTTCCTGCGGGG	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1130A>G	1.37:g.12884981T>C	ENSP00000439551:p.Gln377Arg	Somatic	272	3		WXS	Illumina GAIIx	Phase_I	36	4	NM_001146344	0	0	0	0	0		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	61	0.027930402930402932	1	0.0020325203252032522	12	0.03314917127071823	5	0.008741258741258742	43	0.05672823218997362	.	1.215	-0.628591	0.03610	0.006503	0.051887	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.56103	0.48;0.48	1.76	-1.18	0.09617	.	0.329023	0.24884	N	0.034831	T	0.02230	0.0069	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05616	-1.0874	10	0.21540	T	0.41	.	2.7367	0.05242	0.308:0.2838:0.0:0.4082	rs4989318	377	O60813	PRA11_HUMAN	R	377;418;377	ENSP00000439551:Q377R;ENSP00000391839:Q377R	ENSP00000328783:Q418R	Q	-	2	0	PRAMEF11	12807568	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-1.124000	0.03260	-1.008000	0.03404	-0.479000	0.04858	CAG	T|0.500;C|0.500		0.507	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		C	12884981	T	C	12884981	3	2	32	1	0	0	0	0	1	0	0	0	12469	1580	55	4	184	4	PRAMEF11	1	12884981	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	29383	12884981	236365640	2	8069											
SDHB	6390	broad.mit.edu	37	chr1	17380491	17380491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcaaccggcgcctcaaGgagagggcgaccaccgccgc	15	17	1	1	rs148738139	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:17380491G>A	ENST00000375499.3	-	1	174	c.24C>T	c.(22-24)tcC>tcT	p.S8S	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	8					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	GGCGCCTCAAGGAGAGGGCGA	0.672			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				G|||	6	0.00119808	0	0	5008	,	,		13581	0		0.006	False		,,,				2504	0				p.S8S		.	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	.	SDHB-658	0			c.C24T						.	G		6,4398		0,6,2196	18	21	20		24	4.3	1	1	dbSNP_134	20	65,8531		1,63,4234	no	coding-synonymous	SDHB	NM_003000.2		1,69,6430	AA,AG,GG		0.7562,0.1362,0.5462		8/281	17380491	71,12929	2202	4298	6500	SO:0001819	synonymous_variant	6390	exon1	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;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	CCTCAAGGAGAGG	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.24C>T	1.37:g.17380491G>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	186	5	NM_003000	0	0	0	0	0	B2R545|Q0QEY7|Q9NQ12	Silent	SNP	ENST00000375499.3	37	CCDS176.1																																																																																			G|0.996;A|0.004		0.672	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		A	17380491	G	A	17380491	2	1	32	1	0	0	0	0	0	0	0	1	14010	987	35	3		3	SDHB	1	17380491	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	4495510	17380491	231870130	3	8070											
PADI4	23569	bcgsc.ca	37	chr1	17660499	17660499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctctactctacctcaccgGggtgggtaagtgacaaccag	11	12	3	1	rs874881	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:17660499G>C	ENST00000375448.4	+	3	361	c.335G>C	c.(334-336)gGg>gCg	p.G112A	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Missense_Mutation_p.G112A	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	112			G -> A (does not catalytic activity; dbSNP:rs874881). {ECO:0000269|PubMed:10488123, ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TACCTCACCGGGGTGGGTAAG	0.512													G|||	2614	0.521965	0.4607	0.5403	5008	,	,		17445	0.5585		0.5537	False		,,,				2504	0.5215				p.G112A		.											.	PADI4-70	0			c.G335C						.	G	ALA/GLY	2143,2263	580.0+/-385.0	511,1121,571	92	76	81		335	4.7	0.9	1	dbSNP_86	81	4738,3862	609.5+/-395.5	1295,2148,857	yes	missense	PADI4	NM_012387.2	60	1806,3269,1428	CC,CG,GG		44.907,48.6382,47.0936	benign	112/664	17660499	6881,6125	2203	4300	6503	SO:0001583	missense	23569	exon3			TCACCGGGGTGGG	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.335G>C	1.37:g.17660499G>C	ENSP00000364597:p.Gly112Ala	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	119	5	NM_012387	0	0	0	0	0	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	1110	0.5082417582417582	204	0.4146341463414634	185	0.511049723756906	315	0.5506993006993007	406	0.5356200527704486	g	10.46	1.355764	0.24598	0.486382	0.55093	ENSG00000159339	ENST00000375453;ENST00000358829;ENST00000375448	T;T	0.07800	3.16;3.16	4.74	4.74	0.60224	Cupredoxin (1);	0.155963	0.43747	D	0.000534	T	0.00012	0.0000	L	0.42744	1.35	0.31107	P	0.710423	P;P	0.38597	0.639;0.639	B;B	0.34824	0.19;0.19	T	0.20638	-1.0269	9	0.11182	T	0.66	-16.8479	13.6003	0.62015	0.0:0.0:1.0:0.0	rs874881;rs3737763;rs17852289;rs52816356;rs874881	112;112	A8K392;Q9UM07	.;PADI4_HUMAN	A	112	ENSP00000364602:G112A;ENSP00000364597:G112A	ENSP00000351690:G112A	G	+	2	0	PADI4	17533086	0.810000	0.29049	0.885000	0.34714	0.983000	0.72400	3.212000	0.51145	2.339000	0.79563	0.557000	0.71058	GGG	G|0.467;C|0.533		0.512	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		C	17660499	G	C	17660499	3	2	32	1	0	0	0	0	1	0	0	0	11419	1232	43	3	345	3	PADI4	1	17660499	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	280008	17660499	231590122	4	8071											
KIF17	57576	bcgsc.ca	37	chr1	21012575	21012575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagccgcctcggcttcGggcctggcatcactgggctc	12	16	3	0	rs479323	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:21012575G>A	ENST00000247986.2	-	9	2293	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P	KIF17_ENST00000375044.1_Silent_p.P561P|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.P661P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	661					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTCGGCTTCGGGCCTGGCAT	0.632													G|||	1046	0.208866	0.5794	0.0937	5008	,	,		16132	0.0357		0.0706	False		,,,				2504	0.1104				p.P661P		.											.	KIF17-94	0			c.C1983T						.	G	,	1947,2415		426,1095,660	29	29	29		1983,1983	-7.3	0	1	dbSNP_83	29	487,8055		13,461,3797	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	439,1556,4457	AA,AG,GG		5.7012,44.6355,18.8624	,	661/1029,661/1030	21012575	2434,10470	2181	4271	6452	SO:0001819	synonymous_variant	57576	exon9			GGCTTCGGGCCTG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1983C>T	1.37:g.21012575G>A		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_001122819	0	0	0	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																			G|0.793;A|0.207		0.632	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		A	21012575	G	A	21012575	2	1	32	1	0	0	0	0	0	0	0	1	8306	1103	39	1		1	KIF17	1	21012575	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	3352076	21012575	228238046	5	8072											
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	22180824	22180824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctgggggagccgcagacGggagccgtgcacctgggcca	18	13	0	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:22180824G>C	ENST00000374695.3	-	50	6380	c.6301C>G	c.(6301-6303)Cgt>Ggt	p.R2101G	HSPG2_ENST00000430507.1_Missense_Mutation_p.R51G	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2101	Ig-like C2-type 6.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGCCGCAGACGGGAGCCGTGC	0.592																																					p.R2101G		.											.	HSPG2-141	0			c.C6301G						.						15	14	14					1																	22180824		2193	4285	6478	SO:0001583	missense	3339	exon50			GCAGACGGGAGCC	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.6301C>G	1.37:g.22180824G>C	ENSP00000363827:p.Arg2101Gly	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	53	45	NM_005529	0	0	5	12	7	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112618	0.77210	.	.	ENSG00000142798	ENST00000374695;ENST00000430507	T;T	0.67865	-0.29;-0.29	5.56	4.65	0.58169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35096	N	0.003443	T	0.69450	0.3112	L	0.46947	1.48	0.40702	D	0.982495	D;D	0.69078	0.996;0.997	D;P	0.63488	0.915;0.895	T	0.67577	-0.5635	10	0.33141	T	0.24	.	6.4514	0.21906	0.0896:0.0:0.7287:0.1817	.	41;2101	Q59EG0;P98160	.;PGBM_HUMAN	G	2101;51	ENSP00000363827:R2101G;ENSP00000416385:R51G	ENSP00000363827:R2101G	R	-	1	0	HSPG2	22053411	0.717000	0.27966	1.000000	0.80357	0.884000	0.51177	1.158000	0.31737	2.629000	0.89072	0.655000	0.94253	CGT	.		0.592	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22180824	G	C	22180824	3	2	32	1	0	0	0	0	1	0	0	0	7457	1116	39	2	7066	2	HSPG2	1	22180824	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	1168249	22180824	227069797	6	8073											
ALG6	29929	ucsc.edu;bcgsc.ca	37	chr1	63885045	63885045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttttttcttaaaggttaGctgtgcgctatcattctttt	6	9	3	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:63885045G>T	ENST00000371108.4	+	12	1297	c.992G>T	c.(991-993)aGc>aTc	p.S331I	ALG6_ENST00000263440.4_Missense_Mutation_p.S333I	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	331					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTAAAGGTTAGCTGTGCGCTA	0.284																																					p.S331I		.											.	ALG6-90	0			c.G992T						.						137	136	136					1																	63885045		2202	4285	6487	SO:0001583	missense	29929	exon12			AGGTTAGCTGTGC	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.992G>T	1.37:g.63885045G>T	ENSP00000360149:p.Ser331Ile	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_013339	0	0	0	0	0	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140359	0.37825	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.83914	-1.78;-1.78	5.07	1.94	0.25998	.	0.141030	0.64402	D	0.000003	T	0.58047	0.2095	L	0.39566	1.225	0.40236	D	0.977906	B	0.13594	0.008	B	0.14023	0.01	T	0.48625	-0.9019	10	0.22706	T	0.39	-14.323	9.8236	0.40899	0.0725:0.4078:0.5197:0.0	.	333	A2A2G4	.	I	331;333	ENSP00000360149:S331I;ENSP00000263440:S333I	ENSP00000263440:S333I	S	+	2	0	ALG6	63657633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.780000	0.38634	0.178000	0.19917	0.563000	0.77884	AGC	.		0.284	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		T	63885045	G	T	63885045	3	4	32	1	0	0	0	0	1	0	0	0	522	971	34	3	1034	3	ALG6	1	63885045	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	41704221	63885045	185365576	7	8074											
KCNN3	3782	bcgsc.ca	37	chr1	154744852	154744852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgccagtcatccgcgccAttgtcgatcacgaagagctg	10	14	2	1	rs1131820	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:154744852A>G	ENST00000271915.4	-	3	1362	c.1047T>C	c.(1045-1047)aaT>aaC	p.N349N	KCNN3_ENST00000358505.2_Silent_p.N36N|KCNN3_ENST00000361147.4_Silent_p.N44N	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	354					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)	CATCCGCGCCATTGTCGATCA	0.607													A|||	3902	0.779153	0.593	0.8401	5008	,	,		20790	0.9831		0.7445	False		,,,				2504	0.8129				p.N349N		.											.	KCNN3-91	0			c.T1047C						.	A	,,	2822,1584	664.1+/-401.3	900,1022,281	39	35	36		1047,1047,132	-2.9	1	1	dbSNP_86	36	6349,2251	704.3+/-405.4	2322,1705,273	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNN3	NM_001204087.1,NM_002249.5,NM_170782.2	,,	3222,2727,554	GG,GA,AA		26.1744,35.951,29.4864	,,	349/747,349/732,44/427	154744852	9171,3835	2203	4300	6503	SO:0001819	synonymous_variant	3782	exon3			CGCGCCATTGTCG	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.1047T>C	1.37:g.154744852A>G		Somatic	260	2		WXS	Illumina GAIIx	Phase_I	379	9	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																			G|0.746;N|0.000		0.607	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		G	154744852	A	G	154744852	2	3	32	1	0	0	0	0	0	0	0	1	8107	214	8	4		4	KCNN3	1	154744852	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	90859807	154744852	94505769	8	8075											
SOAT1	6646	ucsc.edu;bcgsc.ca	37	chr1	179312752	179312752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtaagatggggttatgtCgctatgaagtttgcacaggt	13	5	0	2	rs10753191	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:179312752C>T	ENST00000367619.3	+	10	1112	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SOAT1_ENST00000539888.1_Silent_p.V258V|SOAT1_ENST00000540564.1_Silent_p.V265V|SOAT1_ENST00000535686.1_Silent_p.V59V	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	323					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGGTTATGTCGCTATGAAGT	0.313													C|||	1315	0.26258	0.3472	0.2882	5008	,	,		16006	0.3542		0.1302	False		,,,				2504	0.1718				p.V323V		.											.	SOAT1-515	0			c.C969T						.	C		1388,3018	446.7+/-348.1	218,952,1033	137	135	136		969	-10.6	0.6	1	dbSNP_120	136	1210,7390	242.9+/-272.7	89,1032,3179	no	coding-synonymous	SOAT1	NM_003101.4		307,1984,4212	TT,TC,CC		14.0698,31.5025,19.9754		323/551	179312752	2598,10408	2203	4300	6503	SO:0001819	synonymous_variant	6646	exon10			TTATGTCGCTATG	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.969C>T	1.37:g.179312752C>T		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_003101	0	0	247	247	0	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	CCDS1330.1																																																																																			C|0.768;N|0.000		0.313	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		T	179312752	C	T	179312752	2	4	32	1	0	0	0	0	0	0	0	1	14955	871	31	1		1	SOAT1	1	179312752	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	24567900	179312752	69937869	9	8076											
IGFN1	91156	bcgsc.ca	37	chr1	201184275	201184275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcgaggccaccctgacCgtccagggtaaggcccagcc	13	16	0	2	rs2275673	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:201184275C>T	ENST00000335211.4	+	14	9118	c.8988C>T	c.(8986-8988)acC>acT	p.T2996T	IGFN1_ENST00000451870.2_Silent_p.T539T|IGFN1_ENST00000295591.8_Silent_p.T156T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	539						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACCCTGACCGTCCAGGGTA	0.582													T|||	1652	0.329872	0.2383	0.3314	5008	,	,		19691	0.3452		0.3509	False		,,,				2504	0.4151				p.T2996T		.											.	IGFN1-71	0			c.C8988T						.	T		1176,3230	710.0+/-407.8	148,880,1175	56	45	49		8988	-6.3	0	1	dbSNP_100	49	2885,5715	670.8+/-402.8	495,1895,1910	no	coding-synonymous	IGFN1	NM_001164586.1		643,2775,3085	TT,TC,CC		33.5465,26.6909,31.2241		2996/3709	201184275	4061,8945	2203	4300	6503	SO:0001819	synonymous_variant	91156	exon14			CCTGACCGTCCAG	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8988C>T	1.37:g.201184275C>T		Somatic	286	0		WXS	Illumina GAIIx	Phase_I	332	10	NM_001164586	0	0	0	0	0	F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	CCDS53455.1	728	0.3333333333333333	129	0.2621951219512195	116	0.32044198895027626	216	0.3776223776223776	267	0.35224274406332456	T	6.988	0.552422	0.13374	0.266909	0.335465	ENSG00000163395	ENST00000412892	.	.	.	4.65	-6.29	0.02013	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.12502	-1.0545	3	.	.	.	.	10.8458	0.46743	0.0948:0.2532:0.0:0.652	rs2275673;rs59363565;rs2275673	.	.	.	C	414	.	.	R	+	1	0	IGFN1	199450898	0.000000	0.05858	0.001000	0.08648	0.201000	0.24016	-1.251000	0.02882	-2.397000	0.00581	-3.288000	0.00047	CGT	C|0.683;T|0.317		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201184275	C	T	201184275	2	4	32	1	0	0	0	0	0	0	0	1	7617	639	23	1		1	IGFN1	1	201184275	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	21871523	201184275	48066346	10	8077											
SLC26A9	115019	broad.mit.edu	37	chr1	205898454	205898454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgaggcgatgttggtgtGggggaggtttttgcaaatgt	19	3	0	0	rs143411715	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:205898454G>A	ENST00000367135.3	-	7	861	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	SLC26A9_ENST00000340781.4_Missense_Mutation_p.H250Y|SLC26A9_ENST00000367134.2_Missense_Mutation_p.H250Y	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	250					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATGTTGGTGTGGGGGAGGTTT	0.542													G|||	2	0.000399361	8e-04	0	5008	,	,		19547	0		0.001	False		,,,				2504	0				p.H250Y		.											.	SLC26A9-92	0			c.C748T						.	G	TYR/HIS,TYR/HIS	0,4406		0,0,2203	150	138	142		748,748	2.6	1	1	dbSNP_134	142	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	SLC26A9	NM_052934.3,NM_134325.2	83,83	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign,benign	250/792,250/888	205898454	10,12996	2203	4300	6503	SO:0001583	missense	115019	exon7			TGGTGTGGGGGAG	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.748C>T	1.37:g.205898454G>A	ENSP00000356103:p.His250Tyr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_052934	0	0	0	0	0	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.84	2.355968	0.41700	0.0	0.001163	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92699	-3.09;-3.08;-3.09	5.6	2.64	0.31445	Sulphate transporter (1);	0.508000	0.20836	N	0.084792	D	0.86896	0.6043	L	0.47190	1.495	0.09310	N	1	B;P	0.35821	0.301;0.523	B;B	0.32090	0.089;0.14	T	0.78344	-0.2240	10	0.72032	D	0.01	.	8.7235	0.34456	0.0:0.2454:0.3589:0.3957	.	250;250	Q7LBE3;B1AVM8	S26A9_HUMAN;.	Y	250	ENSP00000341682:H250Y;ENSP00000356103:H250Y;ENSP00000356102:H250Y	ENSP00000341682:H250Y	H	-	1	0	SLC26A9	204165077	0.927000	0.31430	0.974000	0.42286	0.996000	0.88848	0.078000	0.14761	0.281000	0.22233	0.561000	0.74099	CAC	G|0.999;A|0.001		0.542	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		A	205898454	G	A	205898454	3	1	32	1	0	0	0	0	1	0	0	0	14569	1348	47	3	1983	3	SLC26A9	1	205898454	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	4714179	205898454	43352167	11	8078											
OBSCN	84033	bcgsc.ca	37	chr1	228494790	228494790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagagctgctggtacgcGgagtggagcaggaggatgcg	19	8	0	1	rs435776	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:228494790G>A	ENST00000422127.1	+	45	12159	c.12115G>A	c.(12115-12117)Gga>Aga	p.G4039R	OBSCN_ENST00000570156.2_Missense_Mutation_p.G4996R|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4039R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1673R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1158R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4039	Ig-like 41.		G -> R (in dbSNP:rs435776).		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)				GCTGGTACGCGGAGTGGAGCA	0.642													G|||	1345	0.26857	0.0605	0.3775	5008	,	,		18993	0.249		0.4841	False		,,,				2504	0.271				p.G4996R		.											.	OBSCN-403	0			c.G14986A						.	G	ARG/GLY,ARG/GLY	513,3873		42,429,1722	66	79	74		12115,12115	0.3	0	1	dbSNP_80	74	4232,4336		1070,2092,1122	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	125,125	1112,2521,2844	AA,AG,GG		49.3931,11.6963,36.6296	probably-damaging,probably-damaging	4039/7969,4039/6621	228494790	4745,8209	2193	4284	6477	SO:0001583	missense	84033	exon56			GTACGCGGAGTGG	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.12115G>A	1.37:g.228494790G>A	ENSP00000409493:p.Gly4039Arg	Somatic	286	1		WXS	Illumina GAIIx	Phase_I	461	11	NM_001271223	0	0	4	4	0	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	663	0.30357142857142855	35	0.07113821138211382	136	0.3756906077348066	134	0.23426573426573427	358	0.47229551451187335	G	10.99	1.506355	0.26949	0.116963	0.493931	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	5.81	0.336	0.15958	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.527305	0.18679	N	0.134218	T	0.00012	0.0000	L	0.37630	1.12	0.80722	P	0.0	P;B	0.43578	0.811;0.058	B;B	0.34652	0.187;0.012	T	0.34403	-0.9830	9	0.15066	T	0.55	.	7.3643	0.26764	0.325:0.1044:0.5706:0.0	rs435776;rs61021469;rs435776	4039;4039	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	4039;4039;1673;1158	ENSP00000284548:G4039R;ENSP00000409493:G4039R;ENSP00000355668:G1673R;ENSP00000355670:G1158R	ENSP00000284548:G4039R	G	+	1	0	OBSCN	226561413	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.390000	0.07332	-0.169000	0.10834	0.462000	0.41574	GGA	G|0.378;T|0.151		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228494790	G	A	228494790	3	1	32	1	0	0	0	0	1	0	0	0	10851	1117	39	1	12289	1	OBSCN	1	228494790	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	22596336	228494790	20755831	12	8079											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504669	228504669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg	17	15	2	0	rs61825302	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000366707.4_Silent_p.A2149A|OBSCN_ENST00000366709.4_Silent_p.A1634A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941				p.A5472A		.											.	OBSCN-403	0			c.G16416A						.		,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033	exon62			CTCTGCGCGGCTC	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.13545G>A	1.37:g.228504669G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001271223	0	0	0	2	2	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.841;A|0.159		0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	32	1	0	0	0	0	0	0	0	1	10851	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	9879	228504669	20745952	13	8080											
PGBD5	79605	broad.mit.edu	37	chr1	230492646	230492646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgggcctcacctgggtTtgggaaggcctgaaggcaga	17	9	1	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr1:230492646T>C	ENST00000525115.1	-	2	569	c.546A>G	c.(544-546)caA>caG	p.Q182Q	PGBD5_ENST00000321327.2_Silent_p.Q281Q|PGBD5_ENST00000391860.1_Silent_p.Q136Q			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	182						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCACCTGGGTTTGGGAAGGCC	0.622																																					p.Q251Q		.											.	PGBD5-93	0			c.A753G						.						67	59	62					1																	230492646		2203	4300	6503	SO:0001819	synonymous_variant	79605	exon2			CTGGGTTTGGGAA	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.546A>G	1.37:g.230492646T>C		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	139	6	NM_001258311	0	0	0	0	0	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	ENST00000525115.1	37																																																																																				.		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		C	230492646	T	C	230492646	2	2	32	1	0	0	0	0	0	0	0	1	11823	1838	64	4		4	PGBD5	1	230492646	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	1987977	230492646	18757975	14	8081											
PLEKHH2	130271	ucsc.edu;bcgsc.ca	37	chr2	43931138	43931138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagcagaatttatgctGtagccaaatcaggtattcga	10	6	1	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:43931138G>T	ENST00000282406.4	+	9	1779	c.1669G>T	c.(1669-1671)Gta>Tta	p.V557L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	557					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATTTATGCTGTAGCCAAATC	0.348																																					p.V557L		.											.	PLEKHH2-92	0			c.G1669T						.						102	102	102					2																	43931138		2203	4300	6503	SO:0001583	missense	130271	exon9			TATGCTGTAGCCA	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1669G>T	2.37:g.43931138G>T	ENSP00000282406:p.Val557Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_172069	0	0	1	1	0	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159195	0.57368	.	.	ENSG00000152527	ENST00000282406	D	0.81821	-1.54	5.11	5.11	0.69529	.	0.071090	0.56097	D	0.000030	D	0.82761	0.5107	M	0.61703	1.905	0.54753	D	0.999986	P;D	0.57571	0.556;0.98	B;P	0.51806	0.285;0.68	D	0.83671	0.0166	10	0.52906	T	0.07	-21.4834	12.2813	0.54765	0.0786:0.0:0.9214:0.0	.	557;557	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	L	557	ENSP00000282406:V557L	ENSP00000282406:V557L	V	+	1	0	PLEKHH2	43784642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.000000	0.76290	2.530000	0.85305	0.655000	0.94253	GTA	.		0.348	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		T	43931138	G	T	43931138	3	4	32	1	0	0	0	0	1	0	0	0	12116	1377	48	3	1699	3	PLEKHH2	2	43931138	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10		43931138	199268235	15	8082											
TSPYL6	388951	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	54482557	54482557	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagcccgggatattgcgaatGatgtcattcctctgctccag	10	11	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:54482557G>T	ENST00000317802.7	-	1	852	c.732C>A	c.(730-732)atC>atA	p.I244I	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	244					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TATTGCGAATGATGTCATTCC	0.537																																					p.I244I		.											.	TSPYL6-90	0			c.C732A						.						62	64	64					2																	54482557		2117	4258	6375	SO:0001819	synonymous_variant	388951	exon1			GCGAATGATGTCA	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.732C>A	2.37:g.54482557G>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	72	5	NM_001003937	0	0	0	0	0	Q6NUJ3	Silent	SNP	ENST00000317802.7	37	CCDS42682.1																																																																																			.		0.537	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		T	54482557	G	T	54482557	2	4	32	1	0	0	0	0	0	0	0	1	16711	1280	45	3		3	TSPYL6	2	54482557	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	10551419	54482557	188716816	16	8083											
SLC1A4	6509	broad.mit.edu	37	chr2	65217143	65217143	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgctgtcgcctactttggCctcaccacactgagtgcctc	8	16	1	1	rs561935539		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:65217143C>A	ENST00000234256.3	+	1	609	c.366C>A	c.(364-366)ggC>ggA	p.G122G	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	122					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTACTTTGGCCTCACCACAC	0.682																																					p.G122G		.											.	SLC1A4-91	0			c.C366A						.						16	18	17					2																	65217143		2203	4300	6503	SO:0001819	synonymous_variant	6509	exon1			CTTTGGCCTCACC		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.366C>A	2.37:g.65217143C>A		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_003038	0	0	4	5	1	B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																			.		0.682	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		A	65217143	C	A	65217143	2	1	32	1	0	0	0	0	0	0	0	1	14479	726	26	3		3	SLC1A4	2	65217143	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	10734586	65217143	177982230	17	8084											
CAPG	822	bcgsc.ca	37	chr2	85628745	85628745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggccgctctcccagcagCgtgttgaggtgcacagccag	13	14	1	1	rs2229669	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:85628745C>T	ENST00000409921.1	-	4	324	c.258G>A	c.(256-258)acG>acA	p.T86T	CAPG_ENST00000263867.4_Silent_p.T86T|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409670.1_Silent_p.T86T|CAPG_ENST00000409724.1_Silent_p.T86T			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTCCCAGCAGCGTGTTGAGGT	0.642													C|||	265	0.0529153	0.0809	0.0461	5008	,	,		16368	0.006		0.0656	False		,,,				2504	0.0552				p.T86T		.											.	CAPG-204	0			c.G258A						.	C		353,4053	182.2+/-210.1	12,329,1862	52	52	52		258	-0.8	1	2	dbSNP_98	52	585,8015	156.4+/-210.3	17,551,3732	no	coding-synonymous	CAPG	NM_001747.2		29,880,5594	TT,TC,CC		6.8023,8.0118,7.2121		86/349	85628745	938,12068	2203	4300	6503	SO:0001819	synonymous_variant	822	exon4			CAGCAGCGTGTTG	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.258G>A	2.37:g.85628745C>T		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	106	5	NM_001256140	0	0	33	33	0	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	CCDS58715.1																																																																																			C|0.941;T|0.059		0.642	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		T	85628745	C	T	85628745	2	4	32	1	0	0	0	0	0	0	0	1	2628	755	27	1		1	CAPG	2	85628745	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	20411602	85628745	157570628	18	8085											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	32	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	24743447	110372192	132827181	19	8086											
SF3B1	23451	bcgsc.ca	37	chr2	198257795	198257795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgaggagatgtctcaaaTacattgggccatacatagtt	9	7	1	2	rs4685	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:198257795T>C	ENST00000335508.6	-	24	3748	c.3657A>G	c.(3655-3657)gtA>gtG	p.V1219V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1219					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)			ATGTCTCAAATACATTGGGCC	0.443			Mis		myelodysplastic syndrome								C|||	3598	0.71845	0.8835	0.6311	5008	,	,		18666	0.5218		0.7256	False		,,,				2504	0.7526				p.V1219V		.		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	.	SF3B1-140	0			c.A3657G						.	C		3679,727	301.5+/-286.9	1539,601,63	119	106	110		3657	3.2	1	2	dbSNP_52	110	5893,2707	433.8+/-357.5	2050,1793,457	no	coding-synonymous	SF3B1	NM_012433.2		3589,2394,520	CC,CT,TT		31.4767,16.5002,26.4032		1219/1305	198257795	9572,3434	2203	4300	6503	SO:0001819	synonymous_variant	23451	exon24			CTCAAATACATTG	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.3657A>G	2.37:g.198257795T>C		Somatic	351	1		WXS	Illumina GAIIx	Phase_I	301	10	NM_012433	0	0	153	153	0	E9PCH3	Silent	SNP	ENST00000335508.6	37	CCDS33356.1	1551	0.7101648351648352	431	0.8760162601626016	230	0.6353591160220995	341	0.5961538461538461	549	0.7242744063324539	C	8.941	0.965705	0.18583	0.834998	0.685233	ENSG00000115524	ENST00000424674	.	.	.	5.39	3.21	0.36854	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.13335	-1.0513	3	.	.	.	.	9.175	0.37107	0.1222:0.7312:0.0:0.1466	rs4685;rs3184562;rs4685	.	.	.	C	235	.	.	Y	-	2	0	SF3B1	197966040	0.983000	0.35010	1.000000	0.80357	0.986000	0.74619	0.206000	0.17375	0.660000	0.30964	-0.320000	0.08662	TAT	T|0.202;G|0.145;C|0.593;A|0.059		0.443	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198257795	T	C	198257795	2	2	32	1	0	0	0	0	0	0	0	1	14194	1393	49	4		4	SF3B1	2	198257795	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	87885603	198257795	44941578	20	8087											
SMARCAL1	50485	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	217341854	217341854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatccaggctgaggaccGcgtgcaccgcattggacaga	14	12	0	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:217341854G>A	ENST00000357276.4	+	16	2780	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R817H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	817	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		GCTGAGGACCGCGTGCACCGC	0.567									Schimke Immuno-Osseous Dysplasia																												p.R817H		.											.	SMARCAL1-293	0			c.G2450A						.						92	73	79					2																	217341854		2202	4298	6500	SO:0001583	missense	50485	exon16	Familial Cancer Database	SIOD	AGGACCGCGTGCA	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.2450G>A	2.37:g.217341854G>A	ENSP00000349823:p.Arg817His	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	86	76	NM_014140	0	1	1	23	21	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272349	0.95429	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.99143	-5.48;-5.48;-5.48	4.71	4.71	0.59529	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97244	0.9893	10	0.87932	D	0	-21.4328	16.8405	0.85967	0.0:0.0:1.0:0.0	.	817	Q9NZC9	SMAL1_HUMAN	H	817;817;659	ENSP00000349823:R817H;ENSP00000350940:R817H;ENSP00000375974:R659H	ENSP00000349823:R817H	R	+	2	0	SMARCAL1	217050099	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.507000	0.97996	2.455000	0.83008	0.655000	0.94253	CGC	.		0.567	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			A	217341854	G	A	217341854	3	1	32	1	0	0	0	0	1	0	0	0	14818	1087	38	1	2504	1	SMARCAL1	2	217341854	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	19084059	217341854	25857519	21	8088											
TM4SF20	79853	bcgsc.ca	37	chr2	228243905	228243905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgacaattagaggtatcGcattgagaactactcctaac	8	9	0	3	rs7574414	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr2:228243905G>A	ENST00000304568.3	-	1	117	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	27			A -> V (in dbSNP:rs7574414). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A27V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TAGAGGTATCGCATTGAGAAC	0.483													G|||	530	0.105831	0.0068	0.0807	5008	,	,		19698	0.1935		0.1511	False		,,,				2504	0.1207				p.A27V		.											.	TM4SF20-514	1	Substitution - Missense(1)	stomach(1)	c.C80T						.	G	VAL/ALA	115,4291	87.8+/-126.4	0,115,2088	127	125	126		80	1.8	0	2	dbSNP_116	126	1209,7391	244.2+/-273.5	81,1047,3172	yes	missense	TM4SF20	NM_024795.3	64	81,1162,5260	AA,AG,GG		14.0581,2.6101,10.1799	benign	27/230	228243905	1324,11682	2203	4300	6503	SO:0001583	missense	79853	exon1			GGTATCGCATTGA	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.80C>T	2.37:g.228243905G>A	ENSP00000303028:p.Ala27Val	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_024795	0	0	0	0	0	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	CCDS2466.1	275	0.1259157509157509	4	0.008130081300813009	32	0.08839779005524862	114	0.1993006993006993	125	0.16490765171503957	G	3.354	-0.131890	0.06753	0.026101	0.140581	ENSG00000168955	ENST00000304568	T	0.26518	1.73	5.77	1.78	0.24846	.	0.883848	0.09827	N	0.750664	T	0.00012	0.0000	L	0.41356	1.27	0.80722	P	0.0	D	0.53462	0.96	B	0.37047	0.24	T	0.10917	-1.0609	9	0.06891	T	0.86	-3.7897	5.2601	0.15567	0.1976:0.3385:0.4638:0.0	rs7574414;rs7574414	27	Q53R12	T4S20_HUMAN	V	27	ENSP00000303028:A27V	ENSP00000303028:A27V	A	-	2	0	TM4SF20	227952149	0.000000	0.05858	0.034000	0.17996	0.029000	0.11900	0.089000	0.15002	0.711000	0.32018	0.591000	0.81541	GCG	G|0.889;A|0.111		0.483	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		A	228243905	G	A	228243905	3	1	32	1	0	0	0	0	1	0	0	0	16016	1087	38	1	625	1	TM4SF20	2	228243905	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	10902051	228243905	14955468	22	8089											
NISCH	11188	hgsc.bcm.edu	37	chr3	52492817	52492817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgccttccctggcgTgacccccagagtactggccc	11	18	0	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr3:52492817T>C	ENST00000479054.1	+	4	389	c.317T>C	c.(316-318)gTg>gCg	p.V106A	NISCH_ENST00000345716.4_Missense_Mutation_p.V106A|NISCH_ENST00000420808.2_Missense_Mutation_p.V106A|NISCH_ENST00000488380.1_Missense_Mutation_p.V106A			Q9Y2I1	NISCH_HUMAN	nischarin	106	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)	TTCCCTGGCGTGACCCCCAGA	0.502																																					p.V106A		.											.	NISCH-93	0			c.T317C						.						111	109	109					3																	52492817		2203	4300	6503	SO:0001583	missense	11188	exon3			CTGGCGTGACCCC	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.317T>C	3.37:g.52492817T>C	ENSP00000418232:p.Val106Ala	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	62	4	NM_001276293	0	0	7	7	0	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	8.929	0.962974	0.18583	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.7	4.56	0.56223	Phox homologous domain (5);	0.316652	0.33813	N	0.004534	T	0.12603	0.0306	N	0.00996	-1.065	0.39186	D	0.962875	B;B	0.19817	0.039;0.001	B;B	0.22386	0.039;0.004	T	0.19289	-1.0310	10	0.10902	T	0.67	-18.6276	5.2901	0.15721	0.0:0.2486:0.0:0.7514	.	106;106	Q9Y2I1;C9J715	NISCH_HUMAN;.	A	106	ENSP00000418232:V106A;ENSP00000339958:V106A;ENSP00000417812:V106A;ENSP00000392484:V106A	ENSP00000339958:V106A	V	+	2	0	NISCH	52467857	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	2.619000	0.46401	2.185000	0.69588	0.533000	0.62120	GTG	.		0.502	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		C	52492817	T	C	52492817	3	2	32	1	0	0	0	0	1	0	0	0	10471	1696	59	4	327	4	NISCH	3	52492817	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10		52492817	145529613	23	8090											
STAB1	23166	bcgsc.ca	37	chr3	52556369	52556369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggcgctgtgagtgccaCgcaggctacgtaggcgatgg	16	11	0	1	rs35325270	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr3:52556369C>T	ENST00000321725.6	+	60	6565	c.6489C>T	c.(6487-6489)caC>caT	p.H2163H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2163	EGF-like 16. {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)		GTGAGTGCCACGCAGGCTACG	0.642													C|||	699	0.139577	0.3593	0.1239	5008	,	,		18425	0.0228		0.0905	False		,,,				2504	0.0245				p.H2163H		.											.	STAB1-139	0			c.C6489T						.	C		1456,2950	466.2+/-354.4	244,968,991	66	70	68		6489	-6.9	0.1	3	dbSNP_126	68	698,7902	172.3+/-223.0	34,630,3636	no	coding-synonymous	STAB1	NM_015136.2		278,1598,4627	TT,TC,CC		8.1163,33.0458,16.5616		2163/2571	52556369	2154,10852	2203	4300	6503	SO:0001819	synonymous_variant	23166	exon60			GTGCCACGCAGGC	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.6489C>T	3.37:g.52556369C>T		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	129	6	NM_015136	0	0	3	4	1	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																			C|0.850;T|0.150		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52556369	C	T	52556369	2	4	32	1	0	0	0	0	0	0	0	1	15284	535	19	1		1	STAB1	3	52556369	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	63552	52556369	145466061	24	8091											
MYLK	4638	bcgsc.ca	37	chr3	123452838	123452838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcttctgaaggaccggGgtctgcggggccgttctggg	18	9	4	1	rs4678047	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr3:123452838G>A	ENST00000475616.1	-	7	1004	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	MYLK_ENST00000359169.1_Silent_p.T335T|MYLK_ENST00000360772.3_Silent_p.T335T|MYLK_ENST00000360304.3_Silent_p.T335T|MYLK_ENST00000346322.5_Silent_p.T335T			Q15746	MYLK_HUMAN	myosin light chain kinase	335					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)		GAAGGACCGGGGTCTGCGGGG	0.642													G|||	3169	0.632788	0.3623	0.7262	5008	,	,		15445	0.9375		0.6491	False		,,,				2504	0.6012				p.T335T		.											.	MYLK-365	0			c.C1005T						.	G	,,,	1727,2679	507.6+/-366.7	336,1055,812	54	59	57		1005,1005,1005,1005	0.3	0	3	dbSNP_111	57	5743,2857	663.9+/-402.1	1923,1897,480	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	2259,2952,1292	AA,AG,GG		33.2209,39.1966,42.565	,,,	335/1915,335/1846,335/1864,335/1795	123452838	7470,5536	2203	4300	6503	SO:0001819	synonymous_variant	4638	exon10			GACCGGGGTCTGC	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.1005C>T	3.37:g.123452838G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	104	6	NM_053025	0	0	0	0	0	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			A|0.608;G|0.392		0.642	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123452838	G	A	123452838	2	1	32	1	0	0	0	0	0	0	0	1	10094	1219	43	3		3	MYLK	3	123452838	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	70896469	123452838	74569592	25	8092											
CRIPAK	285464	ucsc.edu	37	chr4	1388848	1388848	+	Silent	SNP	A	A	C													cccgcctgctcacacgtgccAacgtggagtgcccgcctgat					rs74511366	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:1388848A>C	ENST00000324803.4	+	1	3509	c.549A>C	c.(547-549)ccA>ccC	p.P183P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	183					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCAACGTGGAGTG	0.667													N|||	112	0.0223642	0.0234	0.0288	5008	,	,		14570	0.001		0.0378	False		,,,				2504	0.0225				p.P183P		.											.	CRIPAK-90	0			c.A549C						.						219	152	176					4																	1388848		2182	3950	6132	SO:0001819	synonymous_variant	285464	exon1			CGTGCCAACGTGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.549A>C	4.37:g.1388848A>C		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	231	32	NM_175918	49	0	10	59	0	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			A|0.993;C|0.000;G|0.006		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388848	A	C	1388848	2	2	32	1	0	0	0	0	0	0	0	1	3884	117	5	5		5	CRIPAK	4	1388848	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10		1388848	189765428	26	8093	67	2	1	35		3	2	20	N	C_A	9.083243e-05
CRIPAK	285464	ucsc.edu	37	chr4	1388850	1388850	+	Missense_Mutation	SNP	C	C	T													cgcctgctcacacgtgccaaCgtggagtgcccgcctgatca					rs78729943	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:1388850C>T	ENST00000324803.4	+	1	3511	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	184					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCAACGTGGAGTGCC	0.667													N|||	112	0.0223642	0.0234	0.0288	5008	,	,		13476	0.001		0.0378	False		,,,				2504	0.0225				p.T184M		.											.	CRIPAK-90	0			c.C551T						.						219	152	176					4																	1388850		2180	3938	6118	SO:0001583	missense	285464	exon1			TGCCAACGTGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.551C>T	4.37:g.1388850C>T	ENSP00000323978:p.Thr184Met	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	233	29	NM_175918	0	0	8	8	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	2.068	-0.413800	0.04799	.	.	ENSG00000179979	ENST00000324803	T	0.19532	2.14	1.41	-2.82	0.05787	Post-SET domain (1);	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.22277	-1.0221	9	0.29301	T	0.29	.	4.7529	0.13070	0.0:0.3841:0.1667:0.4492	.	184	Q8N1N5	CRPAK_HUMAN	M	184	ENSP00000323978:T184M	ENSP00000323978:T184M	T	+	2	0	CRIPAK	1378850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.507000	0.06352	-2.573000	0.00466	-2.139000	0.00339	ACG	C|0.500;T|0.500		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388850	C	T	1388850	3	4	32	1	0	0	0	0	1	0	0	0	3884	536	19	1	553	1	CRIPAK	4	1388850	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	2	1388850	189765426	27	8094	67	2	1	35		3	2	20	N	C_A	9.083243e-05
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388867	1388867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgtggagtgcccgcctgAtcacacgtgcccatgtggag	13	13	1	1	rs76058011	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:1388867A>C	ENST00000324803.4	+	1	3528	c.568A>C	c.(568-570)Atc>Ctc	p.I190L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	190					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCGCCTGATCACACGTGC	0.662													N|||	145	0.0289537	0.0174	0.0447	5008	,	,		14453	0.0099		0.0586	False		,,,				2504	0.0225				p.I190L		.											.	CRIPAK-90	0			c.A568C						.						246	170	197					4																	1388867		2172	3827	5999	SO:0001583	missense	285464	exon1			CGCCTGATCACAC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.568A>C	4.37:g.1388867A>C	ENSP00000323978:p.Ile190Leu	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	235	27	NM_175918	0	0	8	96	88	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	4.910	0.169067	0.09339	.	.	ENSG00000179979	ENST00000324803	T	0.19394	2.15	1.25	-1.56	0.08532	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.10636	T	0.68	.	0.5937	0.00732	0.3976:0.2382:0.1983:0.1659	.	190	Q8N1N5	CRPAK_HUMAN	L	190	ENSP00000323978:I190L	ENSP00000323978:I190L	I	+	1	0	CRIPAK	1378867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.558000	0.00923	-1.849000	0.01171	-2.030000	0.00424	ATC	A|0.994;C|0.006		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388867	A	C	1388867	3	2	32	1	0	0	0	0	1	0	0	0	3884	333	12	5	570	5	CRIPAK	4	1388867	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	17	1388867	189765409	28	8095			1	35		3	2	20	N	C_A	9.083243e-05
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	37	6	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	32	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	2839589	4228456	186925820	29	8096											
TBC1D1	23216	hgsc.bcm.edu	37	chr4	38138932	38138932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgggagcctgagtgcacGcagcccgagcccacgggcga	16	15	0	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:38138932G>A	ENST00000261439.4	+	20	3838	c.3483G>A	c.(3481-3483)acG>acA	p.T1161T	TBC1D1_ENST00000508802.1_Silent_p.T1152T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1161					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGAGTGCACGCAGCCCGAGC	0.647																																					p.T1161T		.											.	TBC1D1-91	0			c.G3483A						.						20	23	22					4																	38138932		2201	4300	6501	SO:0001819	synonymous_variant	23216	exon20			GTGCACGCAGCCC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3483G>A	4.37:g.38138932G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	44	26	NM_015173	1	0	16	43	26	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	5.680	0.309997	0.10733	.	.	ENSG00000065882	ENST00000510573	.	.	.	4.79	-8.67	0.00863	.	.	.	.	.	T	0.13586	0.0329	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20009	-1.0288	4	.	.	.	5.6588	0.2136	0.00159	0.2284:0.2481:0.2518:0.2717	.	.	.	.	T	849	.	.	A	+	1	0	TBC1D1	37815327	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.647000	0.05397	-1.849000	0.01171	-0.232000	0.12228	GCA	.		0.647	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		A	38138932	G	A	38138932	2	1	32	1	0	0	0	0	0	0	0	1	15644	1074	38	1		1	TBC1D1	4	38138932	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	33910476	38138932	153015344	30	8097											
MANBA	4126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	103644191	103644191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaccacgttggtaataTcaaagctctaagttaaaggg	9	9	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr4:103644191T>C	ENST00000226578.4	-	4	485	c.386A>G	c.(385-387)gAt>gGt	p.D129G	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	129					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTTGGTAATATCAAAGCTCTA	0.433																																					p.D129G		.											.	MANBA-91	0			c.A386G						.						70	61	64					4																	103644191		2203	4300	6503	SO:0001583	missense	4126	exon4			GTAATATCAAAGC		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.386A>G	4.37:g.103644191T>C	ENSP00000226578:p.Asp129Gly	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	120	48	NM_005908	0	0	0	0	0	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.513982	0.44763	.	.	ENSG00000109323	ENST00000226578	D	0.83250	-1.7	4.22	4.22	0.49857	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.331422	0.30704	N	0.009041	D	0.91520	0.7322	H	0.96015	3.755	0.80722	D	1	P	0.51933	0.949	P	0.53722	0.733	D	0.93710	0.7023	10	0.62326	D	0.03	.	13.4422	0.61119	0.0:0.0:0.0:1.0	.	129	O00462	MANBA_HUMAN	G	129	ENSP00000226578:D129G	ENSP00000226578:D129G	D	-	2	0	MANBA	103863237	1.000000	0.71417	0.848000	0.33437	0.037000	0.13140	3.580000	0.53907	1.907000	0.55213	0.533000	0.62120	GAT	.		0.433	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			C	103644191	T	C	103644191	3	2	32	1	0	0	0	0	1	0	0	0	9257	1435	50	4	2309	4	MANBA	4	103644191	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	65505259	103644191	87510085	31	8098											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000506139.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001047	0	0	0	4	4	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	32	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		6633779	174281481	32	8099											
CDH12	1010	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	21752043	21752043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaatcgtatggtggggCagttggatccacatcatttt	12	7	1	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr5:21752043C>A	ENST00000382254.1	-	15	3274	c.2188G>T	c.(2188-2190)Gcc>Tcc	p.A730S	CDH12_ENST00000522262.1_Missense_Mutation_p.A690S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.A730S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	730					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						TATGGTGGGGCAGTTGGATCC	0.502										HNSCC(59;0.17)																											p.A730S		.											.	CDH12-92	0			c.G2188T						.						228	195	206					5																	21752043		2203	4300	6503	SO:0001583	missense	1010	exon15			GTGGGGCAGTTGG	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.2188G>T	5.37:g.21752043C>A	ENSP00000371689:p.Ala730Ser	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	350	131	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149023	0.57151	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.78816	-1.21;-1.21;-1.21	5.12	5.12	0.69794	Cadherin, cytoplasmic domain (1);	0.050671	0.85682	D	0.000000	D	0.89164	0.6637	M	0.86805	2.84	0.48511	D	0.999669	P;P	0.51351	0.944;0.749	D;B	0.62955	0.909;0.297	D	0.90550	0.4508	10	0.59425	D	0.04	.	18.5514	0.91066	0.0:1.0:0.0:0.0	.	690;730	B7Z2U6;P55289	.;CAD12_HUMAN	S	730;730;690	ENSP00000423577:A730S;ENSP00000371689:A730S;ENSP00000428786:A690S	ENSP00000371689:A730S	A	-	1	0	CDH12	21787800	1.000000	0.71417	0.074000	0.20217	0.573000	0.36030	7.818000	0.86416	2.399000	0.81585	0.467000	0.42956	GCC	.		0.502	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21752043	C	A	21752043	3	1	32	1	0	0	0	0	1	0	0	0	3105	710	25	3	200	3	CDH12	5	21752043	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	15118264	21752043	159163217	33	8100											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	90124769	90124769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcattgtcaggtaccacaGgttgaagtgtatttttttgt	9	6	2	1	rs371947306	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr5:90124769G>T	ENST00000405460.2	+	77	16473	c.16377G>T	c.(16375-16377)caG>caT	p.Q5459H	GPR98_ENST00000425867.2_Missense_Mutation_p.Q1120H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5459	Calx-beta 35. {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)		AGGTACCACAGGTTGAAGTGT	0.303													G|||	8	0.00159744	0	0	5008	,	,		14940	0		0	False		,,,				2504	0.0082				p.Q5459H		.											.	GPR98-103	0			c.G16377T						.						59	55	56					5																	90124769		1824	4086	5910	SO:0001583	missense	84059	exon77			ACCACAGGTTGAA	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.16377G>T	5.37:g.90124769G>T	ENSP00000384582:p.Gln5459His	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	32	22	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.268	1.045054	0.19748	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27557	1.66;1.66	5.71	-3.65	0.04502	.	0.396269	0.29198	N	0.012854	T	0.17704	0.0425	L	0.47716	1.5	0.24982	N	0.991592	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.003;0.002;0.006	T	0.11916	-1.0568	9	.	.	.	.	3.3866	0.07274	0.544:0.1007:0.2571:0.0982	.	1120;5459;1120	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	H	5459;5459;1120	ENSP00000384582:Q5459H;ENSP00000392618:Q1120H	.	Q	+	3	2	GPR98	90160525	0.440000	0.25618	0.239000	0.24122	0.289000	0.27227	0.002000	0.13061	-0.473000	0.06871	-0.768000	0.03414	CAG	.		0.303	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90124769	G	T	90124769	3	4	32	1	0	0	0	0	1	0	0	0	6748	991	35	3	16683	3	GPR98	5	90124769	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	68372726	90124769	90790491	34	8101											
PCDHB3	56132	ucsc.edu	37	chr5	140482312	140482312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtctacctggtggtggcAttggcctcggtgtcttcgct	13	12	2	0	rs429364	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr5:140482312A>G	ENST00000231130.2	+	1	2079	c.2079A>G	c.(2077-2079)gcA>gcG	p.A693A	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	693					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCATTGGCCTCGG	0.687																																					p.A693A		.											.	PCDHB3-92	0			c.A2079G						.						92	93	93					5																	140482312		2198	4287	6485	SO:0001819	synonymous_variant	56132	exon1			GGTGGCATTGGCC	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2079A>G	5.37:g.140482312A>G		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	138	37	NM_018937	0	0	20	24	4	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																			A|0.977;G|0.023		0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		G	140482312	A	G	140482312	2	3	32	1	0	0	0	0	0	0	0	1	11582	204	8	4		4	PCDHB3	5	140482312	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	50357543	140482312	40432948	35	8102											
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A													tgctgctgctgctgctgctgCtgctgctgctgctgatgctg					rs201040133	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662													-|||	41	0.0081869	0.0091	0.0014	5008	,	,		12664	0.0109		0.005	False		,,,				2504	0.0123				p.Q216H		.											.	ATXN1-93	0			c.G648T						.						4	8	7					6																	16327894		1839	3762	5601	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.648G>T	6.37:g.16327894C>A	ENSP00000244769:p.Gln216His	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	76	6	NM_001128164	0	0	5	5	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	-	5.041	0.193181	0.09599	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.59906	0.23;0.23	.	.	.	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.17979	0.02	T	0.14364	-1.0475	7	0.66056	D	0.02	.	.	.	.	.	216	P54253	ATX1_HUMAN	H	216	ENSP00000244769:Q216H;ENSP00000416360:Q216H	ENSP00000244769:Q216H	Q	-	3	2	ATXN1	16435873	0.005000	0.15991	0.008000	0.14137	0.119000	0.20118	-0.699000	0.05087	0.119000	0.18210	0.121000	0.15741	CAG	.		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327894	C	A	16327894	3	1	32	1	0	0	0	0	1	0	0	0	1210	796	28	3	1807	3	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		16327894	154787173	36	8103	68	2									
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327900	16327900	+	Missense_Mutation	SNP	C	C	A													tgctgctgctgctgctgctgCtgctgctgatgctgatgctg					rs200111316		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:16327900C>A	ENST00000244769.4	-	8	1578	c.642G>T	c.(640-642)caG>caT	p.Q214H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q214H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgat	0.667																																					p.Q214H		.											.	ATXN1-93	0			c.G642T						.						4	8	7					6																	16327900		1667	3549	5216	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.642G>T	6.37:g.16327900C>A	ENSP00000244769:p.Gln214His	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	71	6	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	4.744	0.138290	0.09083	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.51325	0.71;0.71	.	.	.	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.18587	-1.0332	5	0.21014	T	0.42	.	.	.	.	.	214	P54253	ATX1_HUMAN	H	214	ENSP00000244769:Q214H;ENSP00000416360:Q214H	ENSP00000244769:Q214H	Q	-	3	2	ATXN1	16435879	0.001000	0.12720	0.011000	0.14972	0.070000	0.16714	-0.244000	0.08903	-2.096000	0.00852	-2.162000	0.00326	CAG	.		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327900	C	A	16327900	3	1	32	1	0	0	0	0	1	0	0	0	1210	796	28	3	1813	3	ATXN1	6	16327900	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	6	16327900	154787167	37	8104	68	2									
HLA-G	3135	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	29797691	29797691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtcgctgctgtgctgTggagaaagaagagctcaggt	16	8	1	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:29797691T>C	ENST00000360323.6	+	5	1018	c.994T>C	c.(994-996)Tgg>Cgg	p.W332R	HLA-G_ENST00000376818.3_Missense_Mutation_p.W240R|HLA-G_ENST00000428701.1_Missense_Mutation_p.W332R|HLA-G_ENST00000376815.3_Missense_Mutation_p.W148R|HLA-G_ENST00000376828.2_Missense_Mutation_p.W337R			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	332					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGCTGTGCTGTGGAGAAAGAA	0.572																																					p.W332R		.											.	HLA-G-517	0			c.T994C						.						81	73	76					6																	29797691		2203	4300	6503	SO:0001583	missense	3135	exon6			GTGCTGTGGAGAA		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.994T>C	6.37:g.29797691T>C	ENSP00000353472:p.Trp332Arg	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	272	125	NM_002127	0	0	0	0	0		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	10.54	1.377580	0.24944	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00882	5.84;5.83;5.83;5.58;5.86	2.23	0.95	0.19572	.	0.812952	0.10065	U	0.720441	T	0.01870	0.0059	M	0.82630	2.6	0.09310	N	1	D;D;D;D	0.89917	0.985;1.0;0.985;1.0	B;D;B;D	0.91635	0.432;0.999;0.432;0.998	T	0.46789	-0.9166	10	0.87932	D	0	.	4.3881	0.11327	0.0:0.2051:0.0:0.7949	.	148;337;240;332	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	R	337;332;332;240;148	ENSP00000366024:W337R;ENSP00000412927:W332R;ENSP00000353472:W332R;ENSP00000366014:W240R;ENSP00000366011:W148R	ENSP00000353472:W332R	W	+	1	0	HLA-G	29905670	0.011000	0.17503	0.025000	0.17156	0.034000	0.12701	-0.174000	0.09839	0.787000	0.33731	0.242000	0.17961	TGG	.		0.572	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		C	29797691	T	C	29797691	3	2	32	1	0	0	0	0	1	0	0	0	7239	1696	59	4	1012	4	HLA-G	6	29797691	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	13469791	29797691	141317376	38	8105											
DDR1	780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	30866949	30866949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgtacctgtcccggcCgcctgcctgcccgcagggcc	14	18	0	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:30866949C>T	ENST00000324771.8	+	20	3166	c.2618C>T	c.(2617-2619)cCg>cTg	p.P873L	DDR1_ENST00000376568.3_Missense_Mutation_p.P873L|DDR1_ENST00000376570.4_Missense_Mutation_p.P836L|DDR1_ENST00000508312.1_Missense_Mutation_p.P854L|DDR1_ENST00000418800.2_Missense_Mutation_p.P836L|DDR1_ENST00000376567.2_Missense_Mutation_p.P836L|DDR1_ENST00000454612.2_Missense_Mutation_p.P836L|DDR1_ENST00000452441.1_Missense_Mutation_p.P873L|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376575.3_Missense_Mutation_p.P879L|DDR1_ENST00000513240.1_Missense_Mutation_p.P879L|DDR1_ENST00000376569.3_Missense_Mutation_p.P836L|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P835L(1)|p.P879L(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGTCCCGGCCGCCTGCCTGC	0.587																																					p.P879L		.											.	DDR1-1403	2	Substitution - Missense(2)	large_intestine(2)	c.C2636T						.						87	89	88					6																	30866949		2203	4300	6503	SO:0001583	missense	780	exon17			CCCGGCCGCCTGC	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.2618C>T	6.37:g.30866949C>T	ENSP00000318217:p.Pro873Leu	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	198	91	NM_013994	0	0	128	289	161	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972256	0.74246	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000484556	D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.0	5.0	0.66597	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	0.93363	0.7884	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;0.993;0.999	D	0.94449	0.7665	10	0.87932	D	0	.	15.8064	0.78517	0.0:1.0:0.0:0.0	.	854;879;873	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	L	873;836;836;836;879;836;873;873;854;836;879;269	ENSP00000318217:P873L;ENSP00000407699:P836L;ENSP00000406091:P836L;ENSP00000365753:P836L;ENSP00000365759:P879L;ENSP00000365754:P836L;ENSP00000365752:P873L;ENSP00000405039:P873L;ENSP00000422442:P854L;ENSP00000365751:P836L;ENSP00000427552:P879L	ENSP00000318217:P873L	P	+	2	0	DDR1	30974928	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	7.234000	0.78134	2.324000	0.78689	0.467000	0.42956	CCG	.		0.587	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30866949	C	T	30866949	3	4	32	1	0	0	0	0	1	0	0	0	4345	652	23	1	2702	1	DDR1	6	30866949	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1069258	30866949	140248118	39	8106											
CYP21A2	1589	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	32006983	32006983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggcatccgtgactcCatggagccagtggtggagca	15	11	0	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:32006983C>T	ENST00000418967.2	+	3	563	c.405C>T	c.(403-405)tcC>tcT	p.S135S	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Silent_p.S105S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	134					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCCGTGACTCCATGGAGCCAG	0.632																																					.	Melanoma(174;1669 1998 3915 34700 46447)	.											.	CYP21A2-68	0			.						.						18	16	17					6																	32006983		2202	4294	6496	SO:0001819	synonymous_variant	1589	.			TGACTCCATGGAG	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.405C>T	6.37:g.32006983C>T		Somatic	214	0		WXS	Illumina GAIIx	Phase_I	480	199	.	0	0	832	1524	692	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	CCDS4735.1																																																																																			.		0.632	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		T	32006983	C	T	32006983	2	4	32	1	0	0	0	0	0	0	0	1	4162	581	21	3		3	CYP21A2	6	32006983	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1140034	32006983	139108084	40	8107											
DNAH8	1769	bcgsc.ca	37	chr6	38800209	38800209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttgcagaagcatatgaaTtggtaatttaagtattttct	7	4	1	2	rs1678729	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:38800209T>C	ENST00000359357.3	+	29	3903	c.3649T>C	c.(3649-3651)Ttg>Ctg	p.L1217L	DNAH8_ENST00000441566.1_Silent_p.L1217L|DNAH8_ENST00000449981.2_Silent_p.L1434L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1217					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						AGCATATGAATTGGTAATTTA	0.363													T|||	1365	0.272564	0.4259	0.2161	5008	,	,		18954	0.2917		0.1272	False		,,,				2504	0.2352				p.L1434L		.											.	DNAH8-615	0			c.T4300C						.	T		1614,2792	497.2+/-363.8	299,1016,888	109	107	108		4300	-5.7	0	6	dbSNP_89	108	1175,7425	238.1+/-269.7	78,1019,3203	no	coding-synonymous	DNAH8	NM_001206927.1		377,2035,4091	CC,CT,TT		13.6628,36.6319,21.4439		1434/4708	38800209	2789,10217	2203	4300	6503	SO:0001819	synonymous_variant	1769	exon31			TATGAATTGGTAA	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.3649T>C	6.37:g.38800209T>C		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	164	6	NM_001206927	0	0	0	0	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				T|0.758;C|0.242		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38800209	T	C	38800209	2	2	32	1	0	0	0	0	0	0	0	1	4621	1490	52	4		4	DNAH8	6	38800209	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	6793226	38800209	132314858	41	8108											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	32	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	481827	39282036	131833031	42	8109											
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968127	106968127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtactgggcaatgaacactCtcattgcacagcagagctcg	10	11	1	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968127C>T	ENST00000369066.3	+	2	2307	c.1820C>T	c.(1819-1821)tCt>tTt	p.S607F		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)		AATGAACACTCTCATTGCACA	0.507																																					p.S607F		.											.	AIM1-139	0			c.C1820T						.						83	85	84					6																	106968127		2203	4300	6503	SO:0001583	missense	202	exon2			AACACTCTCATTG	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.1820C>T	6.37:g.106968127C>T	ENSP00000358062:p.Ser607Phe	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	139	51	NM_001624	0	0	1	1	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007750	0.35415	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72505	-0.66	5.44	-8.48	0.00935	.	3.236840	0.00892	N	0.002254	T	0.31263	0.0791	N	0.22421	0.69	0.09310	N	0.999996	B	0.21309	0.054	B	0.21151	0.033	T	0.33292	-0.9874	10	0.48119	T	0.1	.	8.5683	0.33554	0.0:0.3687:0.3832:0.2481	.	607	Q9Y4K1	AIM1_HUMAN	F	1015;607	ENSP00000358062:S607F	ENSP00000285105:S1015F	S	+	2	0	AIM1	107074820	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.434000	0.06939	-1.541000	0.01727	0.655000	0.94253	TCT	.		0.507	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968127	C	T	106968127	3	4	32	1	0	0	0	0	1	0	0	0	430	913	32	3	1826	3	AIM1	6	106968127	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	67686091	106968127	64146940	43	8110			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968157	106968157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagagctcgcggcaaaatCtggcccacaagtcataccgc	10	14	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968157C>T	ENST00000369066.3	+	2	2337	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F		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)		GCGGCAAAATCTGGCCCACAA	0.527																																					p.S617F		.											.	AIM1-139	0			c.C1850T						.						68	70	70					6																	106968157		2203	4300	6503	SO:0001583	missense	202	exon2			CAAAATCTGGCCC	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.1850C>T	6.37:g.106968157C>T	ENSP00000358062:p.Ser617Phe	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	135	53	NM_001624	0	0	1	1	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230711	0.58777	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.76186	-1.0	5.96	4.15	0.48705	.	2.237630	0.02003	N	0.046440	T	0.59307	0.2184	L	0.56769	1.78	0.22280	N	0.999238	P	0.45902	0.868	B	0.43052	0.406	T	0.45542	-0.9254	10	0.42905	T	0.14	.	7.3521	0.26697	0.1668:0.7491:0.0:0.0841	.	617	Q9Y4K1	AIM1_HUMAN	F	1025;617	ENSP00000358062:S617F	ENSP00000285105:S1025F	S	+	2	0	AIM1	107074850	0.005000	0.15991	0.001000	0.08648	0.117000	0.20001	1.361000	0.34136	0.815000	0.34398	0.655000	0.94253	TCT	.		0.527	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968157	C	T	106968157	3	4	32	1	0	0	0	0	1	0	0	0	430	913	32	3	1856	3	AIM1	6	106968157	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	30	106968157	64146910	44	8111			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968170	106968170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaaaatctggcccacaagtCataccgccagcatcagagaa	8	13	3	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968170C>T	ENST00000369066.3	+	2	2350	c.1863C>T	c.(1861-1863)gtC>gtT	p.V621V		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)		GCCCACAAGTCATACCGCCAG	0.537																																					p.V621V		.											.	AIM1-139	0			c.C1863T						.						66	69	68					6																	106968170		2203	4300	6503	SO:0001819	synonymous_variant	202	exon2			ACAAGTCATACCG	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.1863C>T	6.37:g.106968170C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	136	47	NM_001624	0	0	1	1	0	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																			.		0.537	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968170	C	T	106968170	2	4	32	1	0	0	0	0	0	0	0	1	430	813	29	3		3	AIM1	6	106968170	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	13	106968170	64146897	45	8112			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;bcgsc.ca	37	chr6	106968184	106968184	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagtcataccgccagcatCagagaaaactctgcctattc	6	13	3	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968184C>T	ENST00000369066.3	+	2	2364	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		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)		CCGCCAGCATCAGAGAAAACT	0.532																																					p.S626L		.											.	AIM1-139	0			c.C1877T						.						65	67	66					6																	106968184		2203	4300	6503	SO:0001583	missense	202	exon2			CAGCATCAGAGAA	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.1877C>T	6.37:g.106968184C>T	ENSP00000358062:p.Ser626Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	133	46	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487150	0.26686	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71934	-0.61	5.96	2.78	0.32641	.	1.623460	0.04018	N	0.299327	T	0.45558	0.1348	L	0.54323	1.7	0.09310	N	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.22417	-1.0217	10	0.31617	T	0.26	.	6.6445	0.22927	0.0:0.6697:0.1524:0.1778	.	626	Q9Y4K1	AIM1_HUMAN	L	1034;626	ENSP00000358062:S626L	ENSP00000285105:S1034L	S	+	2	0	AIM1	107074877	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.909000	0.28558	0.848000	0.35191	-0.150000	0.13652	TCA	.		0.532	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968184	C	T	106968184	3	4	32	1	0	0	0	0	1	0	0	0	430	838	29	3	1883	3	AIM1	6	106968184	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	14	106968184	64146883	46	8113			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;bcgsc.ca	37	chr6	106968204	106968204	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagaaaactctgcctattCaggctcaaagtcagggcagc	10	11	4	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968204C>T	ENST00000369066.3	+	2	2384	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		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)		TCTGCCTATTCAGGCTCAAAG	0.537																																					p.Q633X		.											.	AIM1-139	0			c.C1897T						.						64	65	65					6																	106968204		2203	4300	6503	SO:0001587	stop_gained	202	exon2			CCTATTCAGGCTC	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.1897C>T	6.37:g.106968204C>T	ENSP00000358062:p.Gln633*	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	147	51	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	42	9.506017	0.99190	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	5.64	4.75	0.60458	.	0.548978	0.15191	N	0.275567	.	.	.	.	.	.	0.44323	D	0.997205	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.2565	0.54627	0.0:0.8288:0.1712:0.0	.	.	.	.	X	1041;633	.	ENSP00000285105:Q1041X	Q	+	1	0	AIM1	107074897	0.035000	0.19736	0.306000	0.25113	0.019000	0.09904	1.715000	0.37971	1.319000	0.45190	0.561000	0.74099	CAG	.		0.537	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968204	C	T	106968204	4	4	32	1	0	0	0	0	0	1	0	0	430	827	29	3	1903	3	AIM1	6	106968204	Nonsense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	20	106968204	64146863	47	8114			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr6	106968247	106968248	+	Missense_Mutation	DNP	CC	CC	TT													aacacccctgatggctgaatCcagtcccaccaactctccca							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968247_106968248CC>TT	ENST00000369066.3	+	2	2427_2428	c.1940_1941CC>TT	c.(1939-1941)tCC>tTT	p.S647F		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)		ATGGCTGAATCCAGTCCCACCA	0.535																																					p.S647F		.											.	AIM1-139	0			c.C1941T						.																																			SO:0001583	missense	202	exon2			TGAATCCAGTCCC	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	Exception_encountered	6.37:g.106968247_106968248delinsTT	ENSP00000358062:p.Ser647Phe	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	174	15	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Missense_Mutation	DNP	ENST00000369066.3	37	CCDS34506.1																																																																																			.		0.535	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			TT	106968248	CC	TT	106968247	3	4	32	1	0	0	0	0	1	0	0	0	430	855	30	3	1946	3	AIM1	6	106968247	Missense_Mutation	DNP	CC	TCGA-OR-A5KO-01A-11D-A29I-10	43	106968247	64146820	48	8115	69	2	2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968252	106968252	+	Missense_Mutation	SNP	C	C	T													ccctgatggctgaatccagtCccaccaactctcccagcagc							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968252C>T	ENST00000369066.3	+	2	2432	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S		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)		TGAATCCAGTCCCACCAACTC	0.517																																					p.P649S		.											.	AIM1-139	0			c.C1945T						.						56	55	56					6																	106968252		2203	4300	6503	SO:0001583	missense	202	exon2			TCCAGTCCCACCA	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.1945C>T	6.37:g.106968252C>T	ENSP00000358062:p.Pro649Ser	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	179	64	NM_001624	0	0	2	2	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.913088	0.33815	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73047	-0.71	5.63	1.85	0.25348	.	0.704250	0.11982	N	0.510689	T	0.35219	0.0924	L	0.47716	1.5	0.19300	N	0.99998	B	0.12013	0.005	B	0.12156	0.007	T	0.21518	-1.0243	10	0.20046	T	0.44	.	4.7436	0.13026	0.1436:0.5007:0.2777:0.078	.	649	Q9Y4K1	AIM1_HUMAN	S	1057;649	ENSP00000358062:P649S	ENSP00000285105:P1057S	P	+	1	0	AIM1	107074945	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.316000	0.19469	0.052000	0.16007	0.655000	0.94253	CCC	.		0.517	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968252	C	T	106968252	3	4	32	1	0	0	0	0	1	0	0	0	430	855	30	3	1951	3	AIM1	6	106968252	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	5	106968252	64146815	49	8116	69	2	2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968291	106968291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggaaatcacttagccactCctcaaaggccagatcagact	8	13	3	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968291C>T	ENST00000369066.3	+	2	2471	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S		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)		CTTAGCCACTCCTCAAAGGCC	0.493																																					p.P662S		.											.	AIM1-139	0			c.C1984T						.						50	49	49					6																	106968291		2203	4300	6503	SO:0001583	missense	202	exon2			GCCACTCCTCAAA	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.1984C>T	6.37:g.106968291C>T	ENSP00000358062:p.Pro662Ser	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	172	61	NM_001624	0	0	1	1	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237631	0.22711	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.70869	-0.52	5.76	1.43	0.22495	.	1.246280	0.05794	N	0.610870	T	0.24890	0.0604	L	0.27053	0.805	0.09310	N	0.999998	B	0.26935	0.164	B	0.22601	0.04	T	0.15122	-1.0448	10	0.06891	T	0.86	.	2.9754	0.05936	0.1459:0.5383:0.1423:0.1734	.	662	Q9Y4K1	AIM1_HUMAN	S	1070;662	ENSP00000358062:P662S	ENSP00000285105:P1070S	P	+	1	0	AIM1	107074984	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.097000	0.11042	0.352000	0.24053	-0.165000	0.13383	CCT	.		0.493	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968291	C	T	106968291	3	4	32	1	0	0	0	0	1	0	0	0	430	855	30	3	1990	3	AIM1	6	106968291	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	39	106968291	64146776	50	8117			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106968355	106968355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccagccttttgaacatttCtgctggtagtgatgatagtg	11	7	1	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106968355C>T	ENST00000369066.3	+	2	2535	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F		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)		TTGAACATTTCTGCTGGTAGT	0.423																																					p.S683F		.											.	AIM1-139	0			c.C2048T						.						48	51	50					6																	106968355		2203	4300	6503	SO:0001583	missense	202	exon2			ACATTTCTGCTGG	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.2048C>T	6.37:g.106968355C>T	ENSP00000358062:p.Ser683Phe	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	105	35	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030343	0.54790	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.79554	-1.28	6.17	6.17	0.99709	.	0.321791	0.26196	N	0.025772	D	0.86900	0.6044	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.86369	0.1722	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	683	Q9Y4K1	AIM1_HUMAN	F	1091;683	ENSP00000358062:S683F	ENSP00000285105:S1091F	S	+	2	0	AIM1	107075048	1.000000	0.71417	0.981000	0.43875	0.041000	0.13682	2.811000	0.47986	2.941000	0.99782	0.655000	0.94253	TCT	.		0.423	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968355	C	T	106968355	3	4	32	1	0	0	0	0	1	0	0	0	430	913	32	3	2054	3	AIM1	6	106968355	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	64	106968355	64146712	51	8118			2	36		10	9	9940	N	CC_C	6.161997e-16
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	106978066	106978066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggattacagagttagtCacattgacttatttactgaa	7	6	2	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:106978066C>T	ENST00000369066.3	+	6	3857	c.3370C>T	c.(3370-3372)Cac>Tac	p.H1124Y		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)		CAGAGTTAGTCACATTGACTT	0.353																																					p.H1124Y		.											.	AIM1-139	0			c.C3370T						.						131	124	127					6																	106978066		2203	4300	6503	SO:0001583	missense	202	exon6			GTTAGTCACATTG	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.3370C>T	6.37:g.106978066C>T	ENSP00000358062:p.His1124Tyr	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	178	85	NM_001624	0	0	0	0	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981395	0.53827	.	.	ENSG00000112297	ENST00000369066	T	0.74842	-0.88	5.32	5.32	0.75619	Beta/gamma crystallin (3);Gamma-crystallin-related (1);	0.476376	0.26187	N	0.025826	T	0.62792	0.2457	N	0.22421	0.69	0.80722	D	1	B	0.29909	0.261	B	0.40602	0.334	T	0.68930	-0.5279	10	0.87932	D	0	.	19.014	0.92886	0.0:1.0:0.0:0.0	.	1124	Q9Y4K1	AIM1_HUMAN	Y	1124	ENSP00000358062:H1124Y	ENSP00000358062:H1124Y	H	+	1	0	AIM1	107084759	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.136000	0.58004	2.486000	0.83907	0.563000	0.77884	CAC	.		0.353	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106978066	C	T	106978066	3	4	32	1	0	0	0	0	1	0	0	0	430	826	29	3	3392	3	AIM1	6	106978066	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	9711	106978066	64137001	52	8119			2	36		10	9	9940	N	CC_C	6.161997e-16
TRAF3IP2	10758	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	111912951	111912951	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactcagacgcaggctcgctGactgcagagcacccagaagg	13	13	1	4			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:111912951G>A	ENST00000340026.6	-	3	960	c.366C>T	c.(364-366)gtC>gtT	p.V122V	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000368761.5_Silent_p.V113V|TRAF3IP2_ENST00000359831.4_Silent_p.V113V|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	122	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)		CAGGCTCGCTGACTGCAGAGC	0.532																																					p.V113V		.											.	TRAF3IP2-228	0			c.C339T						.						41	41	41					6																	111912951		2203	4300	6503	SO:0001819	synonymous_variant	10758	exon2			CTCGCTGACTGCA	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.366C>T	6.37:g.111912951G>A		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	142	70	NM_147686	0	0	9	13	4	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37																																																																																				.		0.532	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			A	111912951	G	A	111912951	2	1	32	1	0	0	0	0	0	0	0	1	16489	1277	45	3		3	TRAF3IP2	6	111912951	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	4934885	111912951	59202116	53	8120											
TCP10	6953	bcgsc.ca	37	chr6	167789493	167789493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgctcctgcagcgtggTggcctgggaagcctgcactg	15	13	1	0	rs3010590	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr6:167789493T>C	ENST00000397829.4	-	6	816	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	TCP10_ENST00000366827.2_Missense_Mutation_p.T217A	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	244						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGCAGCGTGGTGGCCTGGGAA	0.587													N|||	1278	0.255192	0.3434	0.2118	5008	,	,		15348	0.1657		0.2634	False		,,,				2504	0.2505				p.T217A		.											.	TCP10-89	0			c.A649G						.						23	28	27					6																	167789493		1975	4166	6141	SO:0001583	missense	6953	exon6			GCGTGGTGGCCTG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.649A>G	6.37:g.167789493T>C	ENSP00000380929:p.Thr217Ala	Somatic	68	2		WXS	Illumina GAIIx	Phase_I	75	6	NM_004610	0	0	0	0	0	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	439	0.20100732600732601	110	0.22357723577235772	72	0.19889502762430938	90	0.15734265734265734	167	0.22031662269129287	C	1.066	-0.671381	0.03403	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.25579	1.79;1.79	1.65	0.695	0.18070	.	.	.	.	.	T	0.02571	0.0078	N	0.02802	-0.49	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43925	-0.9361	8	0.31617	T	0.26	.	3.9987	0.09570	0.0:0.5352:0.0:0.4648	rs3010590;rs10455986;rs57900456	244;244	Q12799;Q12799-2	TCP10_HUMAN;.	A	217	ENSP00000355792:T217A;ENSP00000380929:T217A	ENSP00000355792:T217A	T	-	1	0	TCP10	167709483	0.001000	0.12720	0.000000	0.03702	0.188000	0.23474	-0.366000	0.07563	-0.117000	0.11872	-0.665000	0.03846	ACC	T|0.760;C|0.240		0.587	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		C	167789493	T	C	167789493	3	2	32	1	0	0	0	0	1	0	0	0	15757	1696	59	4	343	4	TCP10	6	167789493	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	55876542	167789493	3325574	54	8121											
MICALL2	79778	hgsc.bcm.edu	37	chr7	1484572	1484572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactcggggggctcccccAccctggggtgtggccgggcg	18	16	0	0	rs10435184	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:1484572A>G	ENST00000297508.7	-	6	1309	c.1134T>C	c.(1132-1134)ggT>ggC	p.G378G	MICALL2_ENST00000405088.4_Silent_p.G166G	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	378	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCTCCCCCACCCTGGGGTG	0.716													G|||	4980	0.994409	0.9985	0.9914	5008	,	,		11496	1		0.9801	False		,,,				2504	1				p.G378G		.											.	MICALL2-90	0			c.T1134C						.			3824,4		1910,4,0	4	4	4		1134	1.5	0	7	dbSNP_119	4	7610,92		3759,92,0	yes	coding-synonymous	MICALL2	NM_182924.3		5669,96,0	GG,GA,AA		1.1945,0.1045,0.8326		378/905	1484572	11434,96	1914	3851	5765	SO:0001819	synonymous_variant	79778	exon6			TCCCCCACCCTGG	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1134T>C	7.37:g.1484572A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_182924	0	0	0	6	6	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																			A|0.009;G|0.991		0.716	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		G	1484572	A	G	1484572	2	3	32	1	0	0	0	0	0	0	0	1	9612	146	6	4		4	MICALL2	7	1484572	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10		1484572	157654091	55	8122											
RADIL	55698	broad.mit.edu	37	chr7	4843213	4843214	+	In_Frame_Ins	INS	-	-	CTGCCAGGG													gggaggccccactgccaggcINSctgccagggctgccggggct					rs533343819|rs143909045	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:4843213_4843214insCTGCCAGGG	ENST00000399583.3	-	11	2649_2650	c.2462_2463insCCCTGGCAG	c.(2461-2463)agg>agCCCTGGCAGg	p.820_821insSPG	RADIL_ENST00000538469.1_In_Frame_Ins_p.580_581insSPG|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	820					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACTGCCAGGCCTGCCAGGGCT	0.723														259	0.0517173	0.1392	0.0331	5008	,	,		9434	0		0.0268	False		,,,				2504	0.0256				p.R821delinsSPGR		.											.	RADIL-994	0			c.2463_2464insCCCTGGCAG						.			353,2333		70,213,1060						-0.9	0			9	146,5910		19,108,2901	no	coding	RADIL	NM_018059.4		89,321,3961	A1A1,A1R,RR		2.4108,13.1422,5.7081				499,8243				SO:0001652	inframe_insertion	55698	exon11			GCCAGGCCTGCCA	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2454_2462dupCCCTGGCAG	7.37:g.4843214_4843222dupCTGCCAGGG	ENSP00000382492:p.Ser818_Gly820dup	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	68	15	NM_018059	0	0	0	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	In_Frame_Ins	INS	ENST00000399583.3	37	CCDS43544.1																																																																																			.		0.723	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		CTGCCAGGG	4843214	-	CTGCCAGGG	4843213	7	5	32	1	0	1	1	0	0	0	0	0	13042	738	26	0	784	0	RADIL	7	4843213	In_Frame_Ins	INS	-	TCGA-OR-A5KO-01A-11D-A29I-10	3358641	4843213	154295450	56	8123											
RADIL	55698	hgsc.bcm.edu	37	chr7	4874729	4874729	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccccgcggcctggcCgctgtccgggagcggttgcc	15	18	0	0	rs144507770	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:4874729C>G	ENST00000399583.3	-	4	1112	c.925G>C	c.(925-927)Ggc>Cgc	p.G309R	RADIL_ENST00000538469.1_Missense_Mutation_p.G69R|RADIL_ENST00000536091.1_Missense_Mutation_p.G309R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	309					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCGGCCTGGCCGCTGTCCGGG	0.711													C|||	60	0.0119808	0.0015	0.0173	5008	,	,		10553	0		0.0249	False		,,,				2504	0.0215				p.G309R		.											.	RADIL-994	0			c.G925C						.	C	ARG/GLY	8,3996		0,8,1994	9	13	12		925	-1.8	0	7	dbSNP_134	12	168,8110		4,160,3975	yes	missense	RADIL	NM_018059.4	125	4,168,5969	GG,GC,CC		2.0295,0.1998,1.433	possibly-damaging	309/1076	4874729	176,12106	2002	4139	6141	SO:0001583	missense	55698	exon4			CCTGGCCGCTGTC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.925G>C	7.37:g.4874729C>G	ENSP00000382492:p.Gly309Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	57	28	NM_018059	0	0	0	1	1	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	29	0.013278388278388278	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	18	0.023746701846965697	-	4.272	0.049630	0.08243	0.001998	0.020295	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000538469	T;T;T	0.06068	3.35;3.35;3.35	4.3	-1.83	0.07833	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	1.742530	0.03218	N	0.177080	T	0.02193	0.0068	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39643	-0.9604	10	0.18710	T	0.47	-0.7787	0.4916	0.00565	0.1804:0.2431:0.2692:0.3073	.	309	Q96JH8	RADIL_HUMAN	R	309;280;309;69	ENSP00000382492:G309R;ENSP00000442533:G309R;ENSP00000442966:G69R	ENSP00000320946:G280R	G	-	1	0	RADIL	4841255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	-0.261000	0.09405	-0.759000	0.03464	GGC	C|0.987;G|0.013		0.711	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		G	4874729	C	G	4874729	3	3	32	1	0	0	0	0	1	0	0	0	13042	652	23	2	2350	2	RADIL	7	4874729	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	31516	4874729	154263934	57	8124											
RADIL	55698	hgsc.bcm.edu	37	chr7	4876100	4876100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcggcagcgggcagggcGttcactgggctcaggctggt	20	10	2	0	rs138811640	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:4876100G>A	ENST00000399583.3	-	3	859	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RADIL_ENST00000538469.1_De_novo_Start_OutOfFrame|RADIL_ENST00000536091.1_Silent_p.N224N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	224					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.N224N(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGCAGGGCGTTCACTGGGC	0.721													G|||	60	0.0119808	0.0015	0.0173	5008	,	,		12942	0		0.0249	False		,,,				2504	0.0215				p.N224N		.											.	RADIL-994	1	Substitution - coding silent(1)	lung(1)	c.C672T						.	G		16,4162		0,16,2073	11	18	16		672	0.3	0.1	7	dbSNP_134	16	205,8153		6,193,3980	no	coding-synonymous	RADIL	NM_018059.4		6,209,6053	AA,AG,GG		2.4527,0.383,1.7629		224/1076	4876100	221,12315	2089	4179	6268	SO:0001819	synonymous_variant	55698	exon3			CAGGGCGTTCACT	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.672C>T	7.37:g.4876100G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	21	NM_018059	0	0	2	2	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																			G|0.987;A|0.013		0.721	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4876100	G	A	4876100	2	1	32	1	0	0	0	0	0	0	0	1	13042	1136	40	1		1	RADIL	7	4876100	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	1371	4876100	154262563	58	8125											
REPIN1	29803	hgsc.bcm.edu	37	chr7	150069548	150069548	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcggcccttcacctgcgcCgagtgcgggaagaacttcgg	15	13	1	1	rs187957325	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:150069548C>G	ENST00000425389.2	+	1	1296	c.1218C>G	c.(1216-1218)gcC>gcG	p.A406A	REPIN1_ENST00000444957.1_Silent_p.A406A|REPIN1_ENST00000540729.1_Silent_p.A406A|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.A463A|REPIN1_ENST00000397281.2_Silent_p.A406A|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	406					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCACCTGCGCCGAGTGCGGGA	0.721													c|||	73	0.0145767	0	0.0014	5008	,	,		10583	0.0308		0	False		,,,				2504	0.0419				p.A463A		.											.	REPIN1-69	0			c.C1389G						.	C	,,,	0,3806		0,0,1903	4	5	5		1389,1218,1218,1218	-1.7	0.8	7		5	17,7969		0,17,3976	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	REPIN1	NM_001099695.1,NM_001099696.2,NM_013400.3,NM_014374.3	,,,	0,17,5879	GG,GC,CC		0.2129,0.0,0.1442	,,,	463/625,406/568,406/568,406/568	150069548	17,11775	1903	3993	5896	SO:0001819	synonymous_variant	29803	exon3			CTGCGCCGAGTGC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1218C>G	7.37:g.150069548C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	10	NM_001099695	0	0	21	39	18	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																			C|0.995;G|0.005		0.721	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		G	150069548	C	G	150069548	2	3	32	1	0	0	0	0	0	0	0	1	13272	639	23	2		2	REPIN1	7	150069548	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	145193448	150069548	9069115	59	8126											
CRYGN	155051	hgsc.bcm.edu	37	chr7	151136989	151136989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacgcactcaccttcccCgagcgctgcgccatggtgcg	13	16	1	0	rs116501631	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr7:151136989C>T	ENST00000337323.2	-	1	141	c.15G>A	c.(13-15)tcG>tcA	p.S5S	CRYGN_ENST00000476631.1_Intron|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_Silent_p.S5S	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	5										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCTTCCCCGAGCGCTGCG	0.682													C|||	67	0.0133786	0.0439	0.0072	5008	,	,		12844	0		0.004	False		,,,				2504	0				p.S5S		.											.	CRYGN-90	0			c.G15A						.	C		159,4215		5,149,2033	26	22	23		15	-6.3	0.2	7	dbSNP_132	23	15,8531		0,15,4258	no	coding-synonymous	CRYGN	NM_144727.1		5,164,6291	TT,TC,CC		0.1755,3.6351,1.3467		5/183	151136989	174,12746	2187	4273	6460	SO:0001819	synonymous_variant	155051	exon1			CTTCCCCGAGCGC	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.15G>A	7.37:g.151136989C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	47	21	NM_144727	0	0	0	0	0	Q496G6	Silent	SNP	ENST00000337323.2	37	CCDS5926.1																																																																																			C|0.983;T|0.017		0.682	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			T	151136989	C	T	151136989	2	4	32	1	0	0	0	0	0	0	0	1	3925	639	23	1		1	CRYGN	7	151136989	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1067441	151136989	8001674	60	8127											
FER1L6	654463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	125109589	125109589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgacatctctccaagGcgacccaaagggtatgtcag	10	12	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr8:125109589G>A	ENST00000522917.1	+	36	4979	c.4773G>A	c.(4771-4773)agG>agA	p.R1591R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1591R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1591	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.R1591R(1)		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)			TCTCTCCAAGGCGACCCAAAG	0.483																																					p.R1591R		.											.	FER1L6-100	1	Substitution - coding silent(1)	ovary(1)	c.G4773A						.						84	80	81					8																	125109589		1943	4163	6106	SO:0001819	synonymous_variant	654463	exon36			TCCAAGGCGACCC	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.4773G>A	8.37:g.125109589G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	146	61	NM_001039112	0	0	0	0	0		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																			.		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125109589	G	A	125109589	2	1	32	1	0	0	0	0	0	0	0	1	5837	1194	42	3		3	FER1L6	8	125109589	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10		125109589	21254433	61	8128											
TOP1MT	116447	ucsc.edu;bcgsc.ca	37	chr8	144411548	144411548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcattgaagaagttcttcCggaaaacctcctttgttgtg	9	8	2	2	rs147714048	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr8:144411548C>T	ENST00000329245.4	-	3	366	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R13Q|TOP1MT_ENST00000523676.1_Missense_Mutation_p.R13Q|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R13Q	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	111					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAAGTTCTTCCGGAAAACCTC	0.562													C|||	3	0.000599042	0	0	5008	,	,		17977	0.002		0.001	False		,,,				2504	0				p.R111Q		.											.	TOP1MT-91	0			c.G332A						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	183	163	170		332	-3.6	0	8	dbSNP_134	170	7,8593	6.4+/-24.3	0,7,4293	yes	missense	TOP1MT	NM_052963.1	43	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	possibly-damaging	111/602	144411548	8,12998	2203	4300	6503	SO:0001583	missense	116447	exon3			TTCTTCCGGAAAA	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.332G>A	8.37:g.144411548C>T	ENSP00000328835:p.Arg111Gln	Somatic	124	3		WXS	Illumina GAIIx	Phase_I	199	67	NM_052963	0	0	8	16	8	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.021	-1.425500	0.01126	2.27E-4	8.14E-4	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591;ENST00000518007;ENST00000518760;ENST00000520950	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	3.83	-3.64	0.04515	DNA topoisomerase I, domain 1 (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.506021	0.16234	N	0.223427	T	0.10465	0.0256	N	0.02539	-0.55	0.32400	N	0.552045	B	0.33044	0.395	B	0.18263	0.021	T	0.43972	-0.9358	10	0.02654	T	1	.	9.5598	0.39362	0.0:0.3329:0.0:0.6671	.	111	Q969P6	TOP1M_HUMAN	Q	111;13;13;13;13;13;80;137;13	ENSP00000328835:R111Q;ENSP00000428369:R13Q;ENSP00000429169:R13Q;ENSP00000429181:R13Q;ENSP00000427998:R13Q;ENSP00000429177:R13Q;ENSP00000430209:R80Q;ENSP00000428723:R137Q;ENSP00000430635:R13Q	ENSP00000328835:R111Q	R	-	2	0	TOP1MT	144482923	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	-0.689000	0.05144	-1.182000	0.02727	-1.162000	0.01777	CGG	C|0.999;T|0.001		0.562	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		T	144411548	C	T	144411548	3	4	32	1	0	0	0	0	1	0	0	0	16412	652	23	1	1521	1	TOP1MT	8	144411548	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	19301959	144411548	1952474	62	8129											
PLEC	5339	hgsc.bcm.edu	37	chr8	144992385	144992385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagctggccggtgccGtcgtcacgacggcaccgcct	15	15	1	0	rs375886231		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr8:144992385G>A	ENST00000322810.4	-	32	12184	c.12015C>T	c.(12013-12015)gaC>gaT	p.D4005D	PLEC_ENST00000436759.2_Silent_p.D3895D|PLEC_ENST00000527096.1_Silent_p.D3891D|PLEC_ENST00000354589.3_Silent_p.D3868D|PLEC_ENST00000356346.3_Silent_p.D3854D|PLEC_ENST00000354958.2_Silent_p.D3846D|PLEC_ENST00000398774.2_Silent_p.D3836D|PLEC_ENST00000345136.3_Silent_p.D3868D|PLEC_ENST00000357649.2_Silent_p.D3872D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4005	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCGGTGCCGTCGTCACGAC	0.687																																					p.D4005D		.											.	PLEC-141	0			c.C12015T						.	G	,,,,,,,	0,3718		0,0,1859	8	11	10		11685,11562,11538,12015,11508,11604,11616,11604	-5.1	0	8		10	1,8001		0,1,4000	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,5859	AA,AG,GG		0.0125,0.0,0.0085	,,,,,,,	3895/4575,3854/4534,3846/4526,4005/4685,3836/4516,3868/4548,3872/4552,3868/4548	144992385	1,11719	1859	4001	5860	SO:0001819	synonymous_variant	5339	exon32			GGTGCCGTCGTCA	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.12015C>T	8.37:g.144992385G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_201380	0	0	20	35	15	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144992385	G	A	144992385	2	1	32	1	0	0	0	0	0	0	0	1	12091	1136	40	1		1	PLEC	8	144992385	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	580837	144992385	1371637	63	8130											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_024896	0	0	0	2	2	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	32	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10		5832728	135380703	64	8131											
C9orf93	203238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	15724809	15724809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgatgttaataaagaGttaagtcatttacacactaa	7	6	1	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr9:15724809G>T	ENST00000380701.3	+	14	1855	c.1527G>T	c.(1525-1527)gaG>gaT	p.E509D	CCDC171_ENST00000297641.3_Missense_Mutation_p.E509D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	509																	TTAATAAAGAGTTAAGTCATT	0.403																																					p.E509D		.											.	.	0			c.G1527T						.						126	139	135					9																	15724809		2203	4299	6502	SO:0001583	missense	203238	exon14			TAAAGAGTTAAGT	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.1527G>T	9.37:g.15724809G>T	ENSP00000370077:p.Glu509Asp	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	186	69	NM_173550	0	0	0	0	0	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437319	0.62955	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.52754	0.65;0.65	5.42	3.6	0.41247	.	0.049284	0.85682	D	0.000000	T	0.53642	0.1809	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.996;0.996;0.99	T	0.46898	-0.9158	10	0.32370	T	0.25	-14.6758	12.2393	0.54534	0.1383:0.0:0.8617:0.0	.	517;509;509	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	D	509	ENSP00000297641:E509D;ENSP00000370077:E509D	ENSP00000297641:E509D	E	+	3	2	C9orf93	15714809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.784000	0.68990	0.792000	0.33850	-0.157000	0.13467	GAG	.		0.403	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		T	15724809	G	T	15724809	3	4	32	1	0	0	0	0	1	0	0	0	2513	1020	36	3	1577	3	C9orf93	9	15724809	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	9892081	15724809	125488622	65	8132											
ALG2	10952	hgsc.bcm.edu	37	chr9	101984048	101984048	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagatcttcacgctacacccGcgcgcctgcagcgccagcgc	10	19	2	1	rs35055733	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr9:101984048G>C	ENST00000223641.4	+	0	0				ALG2_ENST00000476832.1_Silent_p.R43R|ALG2_ENST00000319033.6_5'Flank|SEC61B_ENST00000498603.1_5'Flank	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CGCTACACCCGCGCGCCTGCA	0.711													G|||	44	0.00878594	0	0.0101	5008	,	,		12785	0		0.0298	False		,,,				2504	0.0072				p.R43R		.											.	ALG2-92	0			c.C129G						.	G		15,4355		1,13,2171	15	18	17		129	2.8	1	9	dbSNP_126	17	180,8320		0,180,4070	no	coding-synonymous	ALG2	NM_033087.3		1,193,6241	CC,CG,GG		2.1176,0.3432,1.5152		43/417	101984048	195,12675	2185	4250	6435	SO:0001631	upstream_gene_variant	85365	exon1			ACACCCGCGCGCC	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101984048G>C	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	11	NM_033087	0	0	14	39	25	P38390|P38391|Q6IBC1	Silent	SNP	ENST00000223641.4	37	CCDS6741.1																																																																																			G|0.984;C|0.016		0.711	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		C	101984048	G	C	101984048	1	2	32	0	1	0	0	0	0	0	0	0	519	1074	38	2		2	ALG2	9	101984048	5'Flank	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	86259239	101984048	39229383	66	8133											
PPAPDC3	84814	hgsc.bcm.edu	37	chr9	134183371	134183371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcaagcggcgcggcccGtacgagacgagccccagcct	12	17	2	1	rs61731644	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr9:134183371G>A	ENST00000372264.3	+	2	817	c.513G>A	c.(511-513)ccG>ccA	p.P171P		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	171					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGCGCGGCCCGTACGAGACGA	0.682													G|||	25	0.00499201	0.0189	0	5008	,	,		15423	0		0	False		,,,				2504	0				p.P171P		.											.	PPAPDC3-153	0			c.G513A						.	G		55,4351	52.9+/-88.7	1,53,2149	47	42	44		513	-9.4	0.1	9	dbSNP_129	44	0,8600		0,0,4300	no	coding-synonymous	PPAPDC3	NM_032728.3		1,53,6449	AA,AG,GG		0.0,1.2483,0.4229		171/272	134183371	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	84814	exon2			CGGCCCGTACGAG	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.513G>A	9.37:g.134183371G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	12	NM_032728	0	0	0	10	10	Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	CCDS6942.1																																																																																			G|0.993;A|0.007		0.682	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		A	134183371	G	A	134183371	2	1	32	1	0	0	0	0	0	0	0	1	12335	1132	40	1		1	PPAPDC3	9	134183371	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	32199323	134183371	7030060	67	8134											
KIAA1984	84960	hgsc.bcm.edu	37	chr9	139694613	139694613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggaggagctgcggCtgctgcaggtggagaggcgg	20	9	0	1	rs35342663	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr9:139694613C>A	ENST00000338005.6	+	4	465	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.L174M	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		144										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGAGCTGCGGCTGCTGCAGGT	0.741													C|||	462	0.0922524	0.152	0.0144	5008	,	,		7965	0.1389		0.0219	False		,,,				2504	0.091				p.L144M		.											.	KIAA1984-91	0			c.C430A						.	C	MET/LEU	345,2927		9,327,1300	4	4	4		430	-3.5	0	9	dbSNP_126	4	162,7194		2,158,3518	no	missense	KIAA1984	NM_001039374.4	15	11,485,4818	AA,AC,CC		2.2023,10.544,4.7704	benign	144/535	139694613	507,10121	1636	3678	5314	SO:0001583	missense	84960	exon4			CTGCGGCTGCTGC																												ENST00000338005.6:c.430C>A	9.37:g.139694613C>A	ENSP00000338013:p.Leu144Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	22	NM_001039374	0	0	0	0	0	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	155	0.07097069597069597	63	0.12804878048780488	6	0.016574585635359115	71	0.12412587412587413	15	0.01978891820580475	C	8.887	0.953003	0.18431	0.10544	0.022023	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.69	-3.55	0.04639	.	1.415250	0.05927	U	0.634446	T	0.00073	0.0002	N	0.21448	0.665	0.80722	P	0.0	B	0.24368	0.102	B	0.23852	0.049	T	0.40098	-0.9581	9	0.45353	T	0.12	-2.6838	3.6184	0.08086	0.384:0.3008:0.0:0.3152	rs35342663;rs59016673;rs62581420	144	Q5T5S1	K1984_HUMAN	M	144	ENSP00000338013:L144M	ENSP00000338013:L144M	L	+	1	2	KIAA1984	138814434	0.000000	0.05858	0.004000	0.12327	0.449000	0.32228	-3.365000	0.00496	-1.346000	0.02211	-0.384000	0.06662	CTG	C|0.928;A|0.072		0.741	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139694613	C	A	139694613	3	1	32	1	0	0	0	0	1	0	0	0	8293	796	28	3	444	3	KIAA1984	9	139694613	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	5511242	139694613	1518818	68	8135											
MYO3A	53904	bcgsc.ca	37	chr10	26463130	26463130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatctgtagttacccagCgtgcaccgatatgcagccag	10	12	1	1	rs1999240	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:26463130C>A	ENST00000265944.5	+	30	4103	c.3937C>A	c.(3937-3939)Cgt>Agt	p.R1313S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1313			R -> S (in dbSNP:rs1999240). {ECO:0000269|PubMed:10936054, ECO:0000269|PubMed:12032315, ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGTTACCCAGCGTGCACCGAT	0.458													A|||	3010	0.601038	0.5545	0.634	5008	,	,		21700	0.6329		0.6004	False		,,,				2504	0.6084				p.R1313S		.											.	MYO3A-1007	0			c.C3937A						.	A	SER/ARG	2403,2003	559.9+/-380.3	658,1087,458	115	122	120		3937	4.1	0.6	10	dbSNP_92	120	4916,3684	527.3+/-381.1	1417,2082,801	yes	missense	MYO3A	NM_017433.4	110	2075,3169,1259	AA,AC,CC		42.8372,45.4607,43.726	benign	1313/1617	26463130	7319,5687	2203	4300	6503	SO:0001583	missense	53904	exon30			ACCCAGCGTGCAC	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.3937C>A	10.37:g.26463130C>A	ENSP00000265944:p.Arg1313Ser	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	333	9	NM_017433	0	0	4	4	0	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	1348	0.6172161172161172	286	0.5813008130081301	216	0.5966850828729282	385	0.6730769230769231	461	0.6081794195250659	A	0.007	-1.940455	0.00479	0.545393	0.571628	ENSG00000095777	ENST00000265944	T	0.78246	-1.16	5.22	4.07	0.47477	.	0.302191	0.40302	N	0.001124	T	0.00012	0.0000	N	0.08118	0	0.21553	P	0.999643656	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	9	0.08837	T	0.75	.	8.6585	0.34077	0.4916:0.393:0.0:0.1154	rs1999240;rs3740230;rs17667000;rs52822170;rs57559611;rs1999240	1313	Q8NEV4	MYO3A_HUMAN	S	1313	ENSP00000265944:R1313S	ENSP00000265944:R1313S	R	+	1	0	MYO3A	26503136	0.993000	0.37304	0.583000	0.28640	0.147000	0.21601	3.235000	0.51328	0.300000	0.22699	-0.362000	0.07510	CGT	C|0.401;A|0.599		0.458	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26463130	C	A	26463130	3	1	32	1	0	0	0	0	1	0	0	0	10114	768	27	2	4047	2	MYO3A	10	26463130	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		26463130	109071617	69	8136											
ZNF485	220992	bcgsc.ca	37	chr10	44111806	44111806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctgaagcatctgttctGggagagcgaacgaaaagtgt	12	7	3	2	rs10899839	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:44111806G>A	ENST00000361807.3	+	5	509	c.315G>A	c.(313-315)ctG>ctA	p.L105L	ZNF485_ENST00000374435.3_Silent_p.L105L|ZNF485_ENST00000374437.2_Silent_p.L14L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	105					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						CATCTGTTCTGGGAGAGCGAA	0.418													G|||	1519	0.303315	0.534	0.2954	5008	,	,		19252	0.0417		0.2654	False		,,,				2504	0.3057				p.L105L		.											.	ZNF485-90	0			c.G315A						.	G		2271,2135	596.9+/-388.7	596,1079,528	65	67	66		315	2	0	10	dbSNP_120	66	2579,6021	418.9+/-352.9	393,1793,2114	no	coding-synonymous	ZNF485	NM_145312.3		989,2872,2642	AA,AG,GG		29.9884,48.4567,37.2905		105/442	44111806	4850,8156	2203	4300	6503	SO:0001819	synonymous_variant	220992	exon5			TGTTCTGGGAGAG	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.315G>A	10.37:g.44111806G>A		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	257	8	NM_145312	0	0	3	3	0	B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	CCDS7205.2																																																																																			G|0.681;A|0.319		0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		A	44111806	G	A	44111806	2	1	32	1	0	0	0	0	0	0	0	1	17986	1335	47	3		3	ZNF485	10	44111806	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	17648676	44111806	91422941	70	8137											
FAM21B	387680	bcgsc.ca	37	chr10	47915898	47915898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaccttatcttccagcaaAaatctcaagccctcatcaga	4	13	4	1	rs183064568		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:47915898A>G	ENST00000358474.5	+	15	1305	c.1305A>G	c.(1303-1305)aaA>aaG	p.K435K		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		435					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K435K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTCCAGCAAAAATCTCAAGC	0.408																																					p.K435K		.											.	FAM21B-23	1	Substitution - coding silent(1)	stomach(1)	c.A1305G						.						20	29	26					10																	47915898		1759	4018	5777	SO:0001819	synonymous_variant	55747	exon15			CAGCAAAAATCTC																												ENST00000358474.5:c.1305A>G	10.37:g.47915898A>G		Somatic	125	12		WXS	Illumina GAIIx	Phase_I	74	39	NM_018232	0	0	0	1	1		Silent	SNP	ENST00000358474.5	37	CCDS44379.1																																																																																			A|0.375;G|0.625		0.408	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			G	47915898	A	G	47915898	2	3	32	1	0	0	0	0	0	0	0	1	5560	11	1	4		4	FAM21B	10	47915898	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	3804092	47915898	87618849	71	8138											
CDHR1	92211	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	85978991	85978991	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaatctgagtaatgtgaatCtgtactctagagtttttcaa	7	6	5	3	rs7895270	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:85978991C>T	ENST00000372117.3	+	0	5428				CDHR1_ENST00000332904.3_Silent_p.L733L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TAATGTGAATCTGTACTCTAG	0.408													C|||	1392	0.277955	0.5227	0.2291	5008	,	,		18558	0.0655		0.2286	False		,,,				2504	0.2515				p.L733L		.											.	CDHR1-91	0			c.C2197T						.																																			SO:0001628	intergenic_variant	92211	exon17			GTGAATCTGTACT	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634		10.37:g.85978991C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	46	7	NM_001171971	0	0	0	0	0	Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	CCDS7372.1																																																																																			C|0.735;T|0.265		0.408	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		T	85978991	C	T	85978991	1	4	32	0	1	0	0	0	0	0	0	0	3125	912	32	3		3	CDHR1	10	85978991	IGR	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	38063093	85978991	49555756	72	8139											
RRP12	23223	bcgsc.ca	37	chr10	99155984	99155984	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacccactcaccagagcagcGaagtactcagtctccgtctc	7	17	4	1	rs3814553	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:99155984G>A	ENST00000370992.4	-	3	555	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RRP12_ENST00000414986.1_Silent_p.F148F|RRP12_ENST00000315563.6_Silent_p.F148F	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	148						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCAGAGCAGCGAAGTACTCAG	0.572													G|||	2024	0.404153	0.5507	0.3429	5008	,	,		3638	0.3125		0.337	False		,,,				2504	0.4131				p.F148F		.											.	RRP12-92	0			c.C444T						.	G	,	2174,2232	585.8+/-386.3	545,1084,574	141	119	127		444,444	3.7	1	10	dbSNP_107	127	2742,5858	437.3+/-358.6	438,1866,1996	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	983,2950,2570	AA,AG,GG		31.8837,49.3418,37.7979	,	148/1237,148/1298	99155984	4916,8090	2203	4300	6503	SO:0001819	synonymous_variant	23223	exon3			AGCAGCGAAGTAC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.444C>T	10.37:g.99155984G>A		Somatic	112	1		WXS	Illumina GAIIx	Phase_I	140	7	NM_001145114	0	0	0	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			G|0.618;A|0.382		0.572	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99155984	G	A	99155984	2	1	32	1	0	0	0	0	0	0	0	1	13731	1049	37	1		1	RRP12	10	99155984	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	13176993	99155984	36378763	73	8140											
GSTO2	119391	bcgsc.ca	37	chr10	106039185	106039185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggagagaatgcactAatctgaaggcagccctgcgt	14	8	1	2	rs156697	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:106039185A>G	ENST00000338595.2	+	5	744	c.424A>G	c.(424-426)Aat>Gat	p.N142D	GSTO2_ENST00000401888.2_Missense_Mutation_p.N142D|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.2_Missense_Mutation_p.N114D|GSTO2_ENST00000450629.2_Intron|GSTO2_ENST00000429569.2_Intron	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	142	GST C-terminal.		N -> D (in dbSNP:rs156697). {ECO:0000269|PubMed:12618591}.		cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)	p.N142D(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	AGAATGCACTAATCTGAAGGC	0.527													G|||	2207	0.440695	0.8048	0.2752	5008	,	,		21195	0.255		0.3668	False		,,,				2504	0.3333				p.N142D		.											.	GSTO2-91	1	Substitution - Missense(1)	stomach(1)	c.A424G						.	G	,ASP/ASN,,ASP/ASN	3273,1133	405.8+/-333.6	1225,823,155	150	132	138		,340,,424	4	0.1	10	dbSNP_79	138	2929,5671	669.5+/-402.7	498,1933,1869	yes	intron,missense,intron,missense	GSTO2	NM_001191013.1,NM_001191014.1,NM_001191015.1,NM_183239.1	,23,,23	1723,2756,2024	GG,GA,AA		34.0581,25.7149,47.6857	,benign,,benign	,114/216,,142/244	106039185	6202,6804	2203	4300	6503	SO:0001583	missense	119391	exon5			TGCACTAATCTGA	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.424A>G	10.37:g.106039185A>G	ENSP00000345023:p.Asn142Asp	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	132	5	NM_183239	0	0	4	4	0	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	CCDS7556.1	936	0.42857142857142855	399	0.8109756097560976	114	0.3149171270718232	152	0.26573426573426573	271	0.3575197889182058	G	0.500	-0.871174	0.02570	0.742851	0.340581	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000401888;ENST00000369707	T;T;T	0.12774	2.65;3.17;2.65	5.87	3.96	0.45880	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.333001	0.34986	N	0.003530	T	0.00012	0.0000	N	0.01048	-1.04	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	0.12103	T	0.63	-7.1748	7.3566	0.26723	0.1496:0.1367:0.7137:0.0	rs156697;rs601755;rs11565111;rs17826262;rs60436392;rs156697	142	Q9H4Y5	GSTO2_HUMAN	D	142;142;142;114	ENSP00000345023:N142D;ENSP00000386011:N142D;ENSP00000358721:N114D	ENSP00000345023:N142D	N	+	1	0	GSTO2	106029175	0.009000	0.17119	0.081000	0.20488	0.253000	0.25986	0.748000	0.26305	0.851000	0.35264	-0.733000	0.03571	AAT	A|0.537;G|0.463		0.527	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		G	106039185	A	G	106039185	3	3	32	1	0	0	0	0	1	0	0	0	6870	362	13	4	438	4	GSTO2	10	106039185	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	6883201	106039185	29495562	74	8141											
JAKMIP3	282973	bcgsc.ca	37	chr10	133954011	133954011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcttccctggaatccgaCggctcctccgtctcttacca	9	16	1	0	rs2818387	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr10:133954011C>T	ENST00000298622.4	+	9	1539	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	467						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAATCCGACGGCTCCTCCG	0.592													C|||	2574	0.513978	0.4584	0.5793	5008	,	,		13772	0.5883		0.4841	False		,,,				2504	0.4969				p.D467D		.											.	JAKMIP3-23	0			c.C1401T						.	C		1813,2195		417,979,608	57	66	63		1401	-5.4	0	10	dbSNP_100	63	4080,4234		995,2090,1072	yes	coding-synonymous	JAKMIP3	NM_001105521.2		1412,3069,1680	TT,TC,CC		49.0739,45.2345,47.825		467/845	133954011	5893,6429	2004	4157	6161	SO:0001819	synonymous_variant	282973	exon9			ATCCGACGGCTCC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1401C>T	10.37:g.133954011C>T		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	323	11	NM_001105521	0	0	0	0	0	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																			C|0.497;T|0.503		0.592	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133954011	C	T	133954011	2	4	32	1	0	0	0	0	0	0	0	1	7969	535	19	1		1	JAKMIP3	10	133954011	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	27914826	133954011	1580736	75	8142											
MUC2	4583	broad.mit.edu	37	chr11	1092947	1092947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1	rs111219026		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:1092947C>A	ENST00000441003.2	+	30	4793	c.4766C>A	c.(4765-4767)aCc>aAc	p.T1589N	MUC2_ENST00000359061.5_Missense_Mutation_p.T1590N|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1589N(2)|p.T1590N(2)|p.T1590I(2)|p.T1589I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.627																																					p.T1589N		.											.	MUC2-90	8	Substitution - Missense(8)	endometrium(8)	c.C4766A						.						58	93	81					11																	1092947		1850	3386	5236	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.4766C>A	11.37:g.1092947C>A	ENSP00000415183:p.Thr1589Asn	Somatic	121	1		WXS	Illumina GAIIx	Phase_I	152	7	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.043	0.376346	0.11466	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14516	2.5;2.84	1.75	1.75	0.24633	.	1.843980	0.03632	U	0.238018	T	0.07863	0.0197	.	.	.	0.09310	N	1	P	0.45986	0.87	B	0.31101	0.124	T	0.33189	-0.9878	9	0.27082	T	0.32	.	8.7142	0.34401	0.0:1.0:0.0:0.0	.	1589	E7EUV1	.	N	1589;1590	ENSP00000415183:T1589N;ENSP00000351956:T1590N	ENSP00000351956:T1590N	T	+	2	0	MUC2	1082947	0.034000	0.19679	0.006000	0.13384	0.170000	0.22686	1.835000	0.39181	1.016000	0.39470	0.121000	0.15741	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092947	C	A	1092947	3	1	32	1	0	0	0	0	1	0	0	0	10013	507	18	3	4884	3	MUC2	11	1092947	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		1092947	133913569	76	8143											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	82	6	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	32	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	161033	1253980	133752536	77	8144											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271223	1271223	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaccacgaaggccacCacgacaagggccaccagttc	11	15	0	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:1271223C>G	ENST00000529681.1	+	31	13171	c.13113C>G	c.(13111-13113)acC>acG	p.T4371T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4374T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4371	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAAGGCCACCACGACAAGGG	0.632																																					p.T4371T		.											.	.	0			c.C13113G						.						101	117	112					11																	1271223		2127	4219	6346	SO:0001819	synonymous_variant	727897	exon31			GGCCACCACGACA	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.13113C>G	11.37:g.1271223C>G		Somatic	296	0		WXS	Illumina GAIIx	Phase_I	400	34	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1271223	C	G	1271223	2	3	32	1	0	0	0	0	0	0	0	1	10017	581	21	3		3	MUC5B	11	1271223	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	17243	1271223	133735293	78	8145											
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	32	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	587349	1858572	133147944	79	8146											
OR56A4	120793	bcgsc.ca	37	chr11	6023818	6023818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagtgatgatagacggGtatctcaatggatggcagat	14	5	2	4	rs10839221	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:6023818G>A	ENST00000330728.4	-	1	606	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATAGACGGGTATCTCAATG	0.493													.|||	812	0.162141	0.0582	0.1945	5008	,	,		22200	0.0794		0.2684	False		,,,				2504	0.2556				p.Y187Y		.											.	OR56A4-69	0			c.C561T						.	G		477,3925	223.9+/-240.3	29,419,1753	65	58	60		561	-0.6	0.1	11	dbSNP_120	60	2565,6027	417.8+/-352.5	397,1771,2128	no	coding-synonymous	OR56A4	NM_001005179.2		426,2190,3881	AA,AG,GG		29.8534,10.836,23.4108		187/366	6023818	3042,9952	2201	4296	6497	SO:0001819	synonymous_variant	120793	exon1			AGACGGGTATCTC	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.561C>T	11.37:g.6023818G>A		Somatic	202	2		WXS	Illumina GAIIx	Phase_I	171	8	NM_001005179	0	0	0	0	0	B9EH17	Silent	SNP	ENST00000330728.4	37	CCDS31404.1																																																																																			G|0.801;A|0.199		0.493	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		A	6023818	G	A	6023818	2	1	32	1	0	0	0	0	0	0	0	1	11174	1256	44	3		3	OR56A4	11	6023818	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	4165246	6023818	128982698	80	8147											
OR56A4	120793	ucsc.edu;bcgsc.ca	37	chr11	6023924	6023924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaacatctggaggaagCaggctgggaagctgatcgac	15	7	1	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:6023924C>T	ENST00000330728.4	-	1	500	c.455G>A	c.(454-456)tGc>tAc	p.C152Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCTGGGAA	0.542																																					p.C152Y		.											.	OR56A4-69	0			c.G455A						.						90	82	85					11																	6023924		2201	4296	6497	SO:0001583	missense	120793	exon1			AGGAAGCAGGCTG	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.455G>A	11.37:g.6023924C>T	ENSP00000328215:p.Cys152Tyr	Somatic	183	2		WXS	Illumina GAIIx	Phase_I	188	163	NM_001005179	0	0	0	0	0	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588530	0.46110	.	.	ENSG00000183389	ENST00000330728	T	0.00547	6.66	3.34	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	U	0.002463	T	0.02342	0.0072	H	0.99498	4.595	0.40952	D	0.984555	P	0.41524	0.753	P	0.44647	0.456	T	0.01363	-1.1374	10	0.87932	D	0	.	9.3546	0.38159	0.0:0.8892:0.0:0.1108	.	100	Q8NGH8	O56A4_HUMAN	Y	152	ENSP00000328215:C152Y	ENSP00000328215:C152Y	C	-	2	0	OR56A4	5980500	1.000000	0.71417	0.989000	0.46669	0.792000	0.44763	4.495000	0.60353	0.724000	0.32296	0.555000	0.69702	TGC	.		0.542	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		T	6023924	C	T	6023924	3	4	32	1	0	0	0	0	1	0	0	0	11174	710	25	3	644	3	OR56A4	11	6023924	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	106	6023924	128982592	81	8148											
USH1C	10083	bcgsc.ca	37	chr11	17542439	17542439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcttgcgaaggggtacTgggtgtacctcagcagtgat	15	7	1	1	rs2240487	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:17542439T>C	ENST00000318024.4	-	14	1296	c.1188A>G	c.(1186-1188)ccA>ccG	p.P396P	USH1C_ENST00000005226.7_Silent_p.P396P|USH1C_ENST00000527020.1_Silent_p.P377P|USH1C_ENST00000527720.1_Silent_p.P365P	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	396					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAAGGGGTACTGGGTGTACCT	0.517													T|||	2586	0.516374	0.3018	0.6527	5008	,	,		18761	0.6716		0.5338	False		,,,				2504	0.5317				p.P396P		.											.	USH1C-91	0			c.A1188G						.	T	,	1569,2831	490.8+/-361.9	270,1029,901	294	274	281	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1188,1188	-10.6	0	11	dbSNP_98	281	4976,3610	625.8+/-397.8	1442,2092,759	no	coding-synonymous,coding-synonymous	USH1C	NM_005709.3,NM_153676.3	,	1712,3121,1660	CC,CT,TT		42.0452,35.6591,49.5996	,	396/553,396/900	17542439	6545,6441	2200	4293	6493	SO:0001819	synonymous_variant	10083	exon14			GGGTACTGGGTGT	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1188A>G	11.37:g.17542439T>C		Somatic	216	0		WXS	Illumina GAIIx	Phase_I	173	9	NM_005709	0	0	0	0	0	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																			C|0.518;T|0.482		0.517	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		C	17542439	T	C	17542439	2	2	32	1	0	0	0	0	0	0	0	1	17083	1567	55	4		4	USH1C	11	17542439	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	11518515	17542439	117464077	82	8149											
EHBP1L1	254102	bcgsc.ca	37	chr11	65351074	65351074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttaaggcccaggaagcGgaggctggggtcttgggaaa	16	7	1	0	rs10896018	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:65351074G>A	ENST00000309295.4	+	9	3196	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	977						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCCAGGAAGCGGAGGCTGGGG	0.577													G|||	1391	0.277756	0.0658	0.4524	5008	,	,		15972	0.4504		0.2654	False		,,,				2504	0.2751				p.A977A		.											.	EHBP1L1-69	0			c.G2931A						.	G		362,3338		27,308,1515	15	16	16		2931	1.6	1	11	dbSNP_120	16	2334,5852		344,1646,2103	no	coding-synonymous	EHBP1L1	NM_001099409.1		371,1954,3618	AA,AG,GG		28.5121,9.7838,22.6821		977/1524	65351074	2696,9190	1850	4093	5943	SO:0001819	synonymous_variant	254102	exon9			GGAAGCGGAGGCT	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2931G>A	11.37:g.65351074G>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	62	5	NM_001099409	0	0	1	1	0	Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	CCDS44649.1	645	0.29532967032967034	36	0.07317073170731707	152	0.4198895027624309	256	0.44755244755244755	201	0.26517150395778366	G	4.671	0.124677	0.08931	0.097838	0.285121	ENSG00000173442	ENST00000533465	.	.	.	5.41	1.59	0.23543	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.6000000000016E-5	.	.	.	.	.	.	T	0.47861	-0.9084	3	.	.	.	.	6.7906	0.23697	0.4492:0.465:0.0858:0.0	rs10896018;rs10896018	.	.	.	R	27	.	.	G	+	1	0	EHBP1L1	65107650	0.002000	0.14202	0.994000	0.49952	0.571000	0.35966	0.223000	0.17719	0.017000	0.15025	-0.436000	0.05848	GGA	G|0.706;A|0.294		0.577	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		A	65351074	G	A	65351074	2	1	32	1	0	0	0	0	0	0	0	1	4990	1103	39	1		1	EHBP1L1	11	65351074	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	47808635	65351074	69655442	83	8150											
PRKRIR	5612	hgsc.bcm.edu	37	chr11	76072085	76072085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttggtattgcattatctCgaagaactgtcctataagga	9	6	1	1	rs76214254	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:76072085C>T	ENST00000260045.3	-	3	338	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	78					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGCATTATCTCGAAGAACTGT	0.308																																					p.R78Q		.											.	PRKRIR-93	0			c.G233A						.						114	110	112					11																	76072085		2200	4292	6492	SO:0001583	missense	5612	exon3			TTATCTCGAAGAA	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.233G>A	11.37:g.76072085C>T	ENSP00000260045:p.Arg78Gln	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	49	4	NM_004705	0	0	6	6	0	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552130	0.65311	.	.	ENSG00000137492	ENST00000260045	D	0.96459	-4.02	5.44	5.44	0.79542	Zinc finger, C2CH-type (4);	0.052263	0.85682	D	0.000000	D	0.93035	0.7783	L	0.31526	0.94	0.44899	D	0.997917	B	0.28470	0.213	B	0.20184	0.028	D	0.90113	0.4193	10	0.36615	T	0.2	.	19.6212	0.95656	0.0:1.0:0.0:0.0	.	78	O43422	P52K_HUMAN	Q	78	ENSP00000260045:R78Q	ENSP00000260045:R78Q	R	-	2	0	PRKRIR	75749733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.216000	0.58540	2.723000	0.93209	0.655000	0.94253	CGA	C|0.999;T|0.001		0.308	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		T	76072085	C	T	76072085	3	4	32	1	0	0	0	0	1	0	0	0	12568	884	31	1	2064	1	PRKRIR	11	76072085	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	10721011	76072085	58934431	84	8151											
C11orf63	79864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	122817236	122817236	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttctgacagccagacGgttagagcttctccagattc	8	12	4	4			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr11:122817236G>T	ENST00000531316.1	+	5	1757	c.1665G>T	c.(1663-1665)acG>acT	p.T555T	C11orf63_ENST00000227349.2_Silent_p.T555T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	555					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACAGCCAGACGGTTAGAGCTT	0.423																																					p.T555T		.											.	C11orf63-93	0			c.G1665T						.						63	63	63					11																	122817236		2202	4298	6500	SO:0001819	synonymous_variant	79864	exon6			CCAGACGGTTAGA	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1665G>T	11.37:g.122817236G>T		Somatic	113	0		WXS	Illumina GAIIx	Phase_I	99	90	NM_024806	0	0	0	0	0	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																			.		0.423	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		T	122817236	G	T	122817236	2	4	32	1	0	0	0	0	0	0	0	1	1659	1103	39	2		2	C11orf63	11	122817236	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	46745151	122817236	12189280	85	8152											
FOXM1	2305	bcgsc.ca	37	chr12	2968169	2968169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcagaggcaccctgggAggtttgtactgggctgaaat	17	7	1	2	rs3742076	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:2968169A>G	ENST00000359843.3	-	9	1995	c.1927T>C	c.(1927-1929)Tcc>Ccc	p.S643P	FOXM1_ENST00000342628.2_Missense_Mutation_p.S681P|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.S628P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	643			S -> P (in dbSNP:rs3742076). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|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 double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCACCCTGGGAGGTTTGTACT	0.612													G|||	1541	0.307708	0.5817	0.2723	5008	,	,		16895	0.2341		0.164	False		,,,				2504	0.1861				p.S681P		.											.	FOXM1-227	0			c.T2041C						.	G	PRO/SER,PRO/SER,PRO/SER	2044,2360		575,894,733	50	60	57		1927,2041,1882	3.4	0	12	dbSNP_107	57	1186,7414		106,974,3220	yes	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	74,74,74	681,1868,3953	GG,GA,AA		13.7907,46.4124,24.8385	benign,benign,benign	643/764,681/802,628/749	2968169	3230,9774	2202	4300	6502	SO:0001583	missense	2305	exon10			CCTGGGAGGTTTG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1927T>C	12.37:g.2968169A>G	ENSP00000352901:p.Ser643Pro	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	13	12	NM_202002	0	0	0	22	22	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	630	0.28846153846153844	274	0.556910569105691	97	0.26795580110497236	148	0.25874125874125875	111	0.14643799472295516	G	0.017	-1.501525	0.01001	0.464124	0.137907	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.91068	-2.71;-2.78;-2.7	4.29	3.4	0.38934	.	0.061535	0.64402	N	0.000004	T	0.00012	0.0000	N	0.00092	-2.175	0.44323	P	0.002797999999999967	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.42275	-0.9461	9	0.06236	T	0.91	.	9.7095	0.40236	0.1686:0.0:0.8314:0.0	rs3742076;rs17856176;rs17856193;rs59442255;rs3742076	627;643;628;643;681	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	P	681;628;643	ENSP00000342307:S681P;ENSP00000354492:S628P;ENSP00000352901:S643P	ENSP00000342307:S681P	S	-	1	0	FOXM1	2838430	1.000000	0.71417	0.020000	0.16555	0.116000	0.19942	3.722000	0.54948	0.579000	0.29504	-0.215000	0.12644	TCC	A|0.714;G|0.286		0.612	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		G	2968169	A	G	2968169	3	3	32	1	0	0	0	0	1	0	0	0	6042	304	11	4	368	4	FOXM1	12	2968169	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10		2968169	130883726	86	8153											
TAS2R43	259289	bcgsc.ca	37	chr12	11244126	11244126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatggcacataacaagaGgaaggagatcacagtttgca	11	6	1	2	rs3759244		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11244126G>A	ENST00000531678.1	-	1	786	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	235					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CATAACAAGAGGAAGGAGATC	0.398																																					p.L235F		.											.	TAS2R43-1	0			c.C703T						.						147	129	135					12																	11244126		2181	4253	6434	SO:0001583	missense	259289	exon1			ACAAGAGGAAGGA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.703C>T	12.37:g.11244126G>A	ENSP00000431719:p.Leu235Phe	Somatic	124	5		WXS	Illumina GAIIx	Phase_I	36	18	NM_176884	0	0	0	0	0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	652	0.29853479853479853	144	0.2926829268292683	133	0.3674033149171271	56	0.0979020979020979	319	0.420844327176781	-	10.07	1.249886	0.22880	.	.	ENSG00000255374	ENST00000531678	T	0.01145	5.27	1.99	-0.439	0.12264	.	.	.	.	.	T	0.00012	0.0000	M	0.83384	2.64	0.80722	P	0.0	P	0.42357	0.777	P	0.51079	0.658	T	0.44390	-0.9331	8	0.59425	D	0.04	.	2.6848	0.05104	0.2155:0.3133:0.4712:0.0	.	235	P59537	T2R43_HUMAN	F	235	ENSP00000431719:L235F	ENSP00000431719:L235F	L	-	1	0	TAS2R43	11135393	0.027000	0.19231	0.019000	0.16419	0.010000	0.07245	0.898000	0.28404	0.156000	0.19299	0.174000	0.16983	CTC	G|0.663;A|0.337		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244126	G	A	11244126	3	1	32	1	0	0	0	0	1	0	0	0	15628	1000	35	3	230	3	TAS2R43	12	11244126	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	8275957	11244126	122607769	87	8154			3	37		5	5	562	N	G_A	2.128553e-12
TAS2R43	259289	bcgsc.ca	37	chr12	11244149	11244149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatcacagtttgcaaaGcttttatgtggaccttggtg	12	6	1	1	rs73064964	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11244149G>A	ENST00000531678.1	-	1	763	c.680C>T	c.(679-681)gCt>gTt	p.A227V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCAAAGCTTTTATGTG	0.393													.|||	38	0.00758786	8e-04	0.0014	5008	,	,		13007	0		0.001	False		,,,				2504	0.0358				p.A227V		.											.	TAS2R43-1	0			c.C680T						.						137	119	125					12																	11244149		2179	4249	6428	SO:0001583	missense	259289	exon1			TGCAAAGCTTTTA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.680C>T	12.37:g.11244149G>A	ENSP00000431719:p.Ala227Val	Somatic	116	5		WXS	Illumina GAIIx	Phase_I	33	19	NM_176884	0	0	0	0	0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	9.695	1.152962	0.21371	.	.	ENSG00000255374	ENST00000531678	T	0.01422	4.91	2.01	2.01	0.26516	.	.	.	.	.	T	0.04048	0.0113	M	0.76727	2.345	0.80722	P	0.0	B	0.29301	0.241	B	0.43867	0.434	T	0.01127	-1.1443	8	0.48119	T	0.1	.	7.4028	0.26973	0.0:0.0:1.0:0.0	.	227	P59537	T2R43_HUMAN	V	227	ENSP00000431719:A227V	ENSP00000431719:A227V	A	-	2	0	TAS2R43	11135416	0.007000	0.16637	0.482000	0.27366	0.029000	0.11900	1.072000	0.30678	1.097000	0.41459	0.195000	0.17529	GCT	.		0.393	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244149	G	A	11244149	3	1	32	1	0	0	0	0	1	0	0	0	15628	971	34	3	253	3	TAS2R43	12	11244149	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	23	11244149	122607746	88	8155			3	37		5	5	562	N	G_A	2.128553e-12
TAS2R43	259289	bcgsc.ca	37	chr12	11244169	11244169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttatgtggaccttggtGctgggatcttgagatccttt	12	7	1	1	rs201144595		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11244169G>A	ENST00000531678.1	-	1	743	c.660C>T	c.(658-660)agC>agT	p.S220S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	220					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGACCTTGGTGCTGGGATCTT	0.398																																					p.S220S		.											.	TAS2R43-1	0			c.C660T						.						130	112	118					12																	11244169		2174	4246	6420	SO:0001819	synonymous_variant	259289	exon1			CTTGGTGCTGGGA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.660C>T	12.37:g.11244169G>A		Somatic	111	4		WXS	Illumina GAIIx	Phase_I	36	19	NM_176884	0	0	0	0	0	P59546|Q645X4	Silent	SNP	ENST00000531678.1	37	CCDS53749.1																																																																																			.		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		A	11244169	G	A	11244169	2	1	32	1	0	0	0	0	0	0	0	1	15628	1310	46	3		3	TAS2R43	12	11244169	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	20	11244169	122607726	89	8156			3	37		5	5	562	N	G_A	2.128553e-12
TAS2R43	259289	bcgsc.ca	37	chr12	11244190	11244190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatcttgagatcctttAccatggagctgcatcttctt	9	10	3	1	rs202034865	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11244190A>G	ENST00000531678.1	-	1	722	c.639T>C	c.(637-639)ggT>ggC	p.G213G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	213					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GAGATCCTTTACCATGGAGCT	0.408																																					p.G213G		.											.	TAS2R43-1	0			c.T639C						.						123	101	108					12																	11244190		2160	4172	6332	SO:0001819	synonymous_variant	259289	exon1			TCCTTTACCATGG	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.639T>C	12.37:g.11244190A>G		Somatic	104	5		WXS	Illumina GAIIx	Phase_I	35	19	NM_176884	0	0	0	0	0	P59546|Q645X4	Silent	SNP	ENST00000531678.1	37	CCDS53749.1																																																																																			A|0.321;G|0.679		0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		G	11244190	A	G	11244190	2	3	32	1	0	0	0	0	0	0	0	1	15628	378	14	4		4	TAS2R43	12	11244190	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	21	11244190	122607705	90	8157			3	37		5	5	562	N	G_A	2.128553e-12
TAS2R43	259289	bcgsc.ca	37	chr12	11244687	11244687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagaccgccagagcagtgaGaatttggtcagcaaaggaga	15	7	1	4	rs200922417|rs113197337	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11244687G>C	ENST00000531678.1	-	1	225	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	48					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGAGCAGTGAGAATTTGGTCA	0.383																																					p.L48V		.											.	TAS2R43-1	0			c.C142G						.						53	48	49					12																	11244687		2019	4101	6120	SO:0001583	missense	259289	exon1			CAGTGAGAATTTG	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.142C>G	12.37:g.11244687G>C	ENSP00000431719:p.Leu48Val	Somatic	73	7		WXS	Illumina GAIIx	Phase_I	26	21	NM_176884	0	0	0	0	0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	6.625	0.483814	0.12581	.	.	ENSG00000255374	ENST00000531678	T	0.01484	4.84	1.97	0.973	0.19710	.	.	.	.	.	T	0.06142	0.0159	M	0.90145	3.09	0.80722	P	0.0	B	0.34264	0.446	B	0.43867	0.434	T	0.01048	-1.1469	8	0.56958	D	0.05	.	6.121	0.20154	0.0:0.3247:0.6753:0.0	.	48	P59537	T2R43_HUMAN	V	48	ENSP00000431719:L48V	ENSP00000431719:L48V	L	-	1	0	TAS2R43	11135954	0.601000	0.26907	0.010000	0.14722	0.027000	0.11550	1.075000	0.30716	0.130000	0.18549	0.184000	0.17185	CTC	.		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11244687	G	C	11244687	3	2	32	1	0	0	0	0	1	0	0	0	15628	942	33	3	791	3	TAS2R43	12	11244687	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	497	11244687	122607208	91	8158			3	37		5	5	562	N	G_A	2.128553e-12
PRB4	5545	ucsc.edu	37	chr12	11461596	11461596	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtaccttgggactggttTcctccttgtgggggtggtct	17	8	1	0	rs59021567		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:11461596T>G	ENST00000535904.1	-	3	354	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB4_ENST00000445719.2_Silent_p.G107G|PRB4_ENST00000279575.1_Silent_p.G107G			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	128	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGACTGGTTTCCTCCTTGTG	0.612										HNSCC(22;0.051)																											p.G107G		.											.	PRB4-91	0			c.A321C						.						186	196	192					12																	11461596		2203	4298	6501	SO:0001819	synonymous_variant	5545	exon3			CTGGTTTCCTCCT		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.321A>C	12.37:g.11461596T>G		Somatic	24	3		WXS	Illumina GAIIx	Phase_I	34	13	NM_001261399	0	0	0	0	0	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	CCDS8641.1																																																																																			T|0.250;G|0.750		0.612	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		G	11461596	T	G	11461596	2	3	32	1	0	0	0	0	0	0	0	1	12487	1770	62	5		5	PRB4	12	11461596	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	216909	11461596	122390299	92	8159											
SLCO1B1	10599	bcgsc.ca	37	chr12	21331549	21331549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacatgtggatatatgTgttcatgggtaatatgcttc	10	5	2	0	rs4149056	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:21331549T>C	ENST00000256958.2	+	6	617	c.521T>C	c.(520-522)gTg>gCg	p.V174A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	174			V -> A (decreased transport activity; dbSNP:rs4149056). {ECO:0000269|PubMed:11477075, ECO:0000269|PubMed:12130747}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGGATATATGTGTTCATGGGT	0.343													T|||	439	0.0876597	0.0136	0.134	5008	,	,		15111	0.123		0.161	False		,,,				2504	0.0429				p.V174A		.											.	SLCO1B1-97	0			c.T521C	GRCh37	CM043777	SLCO1B1	M	rs4149056	.	T	ALA/VAL	159,4247	108.6+/-147.0	3,153,2047	144	135	138	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	521	3.6	0.1	12	dbSNP_110	138	1336,7264	261.4+/-283.8	119,1098,3083	yes	missense	SLCO1B1	NM_006446.4	64	122,1251,5130	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	15.5349,3.6087,11.4947	probably-damaging	174/692	21331549	1495,11511	2203	4300	6503	SO:0001583	missense	10599	exon6			TATATGTGTTCAT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.521T>C	12.37:g.21331549T>C	ENSP00000256958:p.Val174Ala	Somatic	218	2		WXS	Illumina GAIIx	Phase_I	197	6	NM_006446	0	0	0	0	0	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	268	0.1227106227106227	13	0.026422764227642278	50	0.13812154696132597	73	0.12762237762237763	132	0.1741424802110818	T	12.39	1.923669	0.34002	0.036087	0.155349	ENSG00000134538	ENST00000256958	T	0.43294	0.95	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.163062	0.39687	N	0.001300	T	0.00440	0.0014	M	0.92833	3.35	0.54753	P	1.4999999999987246E-5	D	0.89917	1.0	D	0.83275	0.996	T	0.43196	-0.9406	9	0.87932	D	0	.	12.6758	0.56893	0.0:0.0:0.0:1.0	rs4149056;rs52816141;rs60037639;rs4149056	174	Q9Y6L6	SO1B1_HUMAN	A	174	ENSP00000256958:V174A	ENSP00000256958:V174A	V	+	2	0	SLCO1B1	21222816	1.000000	0.71417	0.058000	0.19502	0.015000	0.08874	7.326000	0.79133	1.641000	0.50575	0.260000	0.18958	GTG	T|0.890;C|0.110		0.343	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		C	21331549	T	C	21331549	3	2	32	1	0	0	0	0	1	0	0	0	14768	1696	59	4	539	4	SLCO1B1	12	21331549	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	9869953	21331549	112520346	93	8160											
SENP1	29843	bcgsc.ca	37	chr12	48477416	48477416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctctgagttttcttgggGctcaaaagacttcgacgaca	10	11	3	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:48477416G>T	ENST00000004980.5	-	6	988	c.510C>A	c.(508-510)agC>agA	p.S170R	SENP1_ENST00000448372.1_Missense_Mutation_p.S170R|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.S170R|SENP1_ENST00000551330.1_Missense_Mutation_p.S170R|SENP1_ENST00000549518.1_Missense_Mutation_p.S170R|RNU6-1203P_ENST00000410703.1_RNA			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	170	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTTCTTGGGGCTCAAAAGAC	0.418																																					p.S170R		.											.	SENP1-660	0			c.C510A						.						115	107	110					12																	48477416		1857	4095	5952	SO:0001583	missense	29843	exon6			CTTGGGGCTCAAA	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.510C>A	12.37:g.48477416G>T	ENSP00000004980:p.Ser170Arg	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	90	6	NM_001267594	0	0	5	5	0	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637364	0.67130	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.2	1.39	0.22231	.	0.158254	0.53938	D	0.000056	T	0.24122	0.0584	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.979;0.991	T	0.01096	-1.1453	10	0.59425	D	0.04	-9.2661	9.4361	0.38639	0.2416:0.0:0.7584:0.0	.	170;170	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	R	170	ENSP00000004980:S170R;ENSP00000394791:S170R;ENSP00000446681:S170R;ENSP00000450076:S170R;ENSP00000447328:S170R	ENSP00000004980:S170R	S	-	3	2	SENP1	46763683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.387000	0.20718	0.318000	0.23185	0.655000	0.94253	AGC	.		0.418	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		T	48477416	G	T	48477416	3	4	32	1	0	0	0	0	1	0	0	0	14091	1194	42	3	1473	3	SENP1	12	48477416	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	27145867	48477416	85374479	94	8161											
MLL2	8085	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49445552	49445552	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacataggtgattcttcaggTggtggggacataggcgagtc	16	6	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:49445552T>G	ENST00000301067.7	-	10	1913	c.1914A>C	c.(1912-1914)ccA>ccC	p.P638P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	638	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATTCTTCAGGTGGTGGGGACA	0.622																																					p.P638P		.											.	MLL2-612	0			c.A1914C						.						52	56	55					12																	49445552		2095	4214	6309	SO:0001819	synonymous_variant	8085	exon10			TTCAGGTGGTGGG	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.1914A>C	12.37:g.49445552T>G		Somatic	39	1		WXS	Illumina GAIIx	Phase_I	22	16	NM_003482	0	0	0	3	3	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49445552	T	G	49445552	2	3	32	1	0	0	0	0	0	0	0	1	9659	1683	59	5		5	MLL2	12	49445552	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	968136	49445552	84406343	95	8162											
SLC35E3	55508	hgsc.bcm.edu;bcgsc.ca	37	chr12	69153001	69153001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaatttattggatcattgGgaacacttcacctgtcacgt	7	9	4	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:69153001G>T	ENST00000398004.2	+	4	1009	c.737G>T	c.(736-738)gGg>gTg	p.G246V	SLC35E3_ENST00000538043.1_Intron	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	246						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGATCATTGGGAACACTTCA	0.323																																					p.G246V		.											.	SLC35E3-514	0			c.G737T						.						261	243	249					12																	69153001		1864	4108	5972	SO:0001583	missense	55508	exon4			TCATTGGGAACAC	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.737G>T	12.37:g.69153001G>T	ENSP00000381089:p.Gly246Val	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_018656	0	0	8	8	0	A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636799	0.87760	.	.	ENSG00000175782	ENST00000398004	T	0.69435	-0.4	5.55	5.55	0.83447	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.87318	0.2316	9	.	.	.	-4.4177	19.9048	0.97002	0.0:0.0:1.0:0.0	.	246	Q7Z769	S35E3_HUMAN	V	246	ENSP00000381089:G246V	.	G	+	2	0	SLC35E3	67439268	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.847000	0.92166	2.788000	0.95919	0.555000	0.69702	GGG	.		0.323	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		T	69153001	G	T	69153001	3	4	32	1	0	0	0	0	1	0	0	0	14631	1232	43	3	751	3	SLC35E3	12	69153001	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	19707449	69153001	64698894	96	8163											
DTX1	1840	bcgsc.ca	37	chr12	113533150	113533150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgagcaccccaacccCgggaagaagttcaccgcaag	11	16	1	2	rs61758446	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:113533150C>T	ENST00000257600.3	+	8	2072	c.1569C>T	c.(1567-1569)ccC>ccT	p.P523P	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	523					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						ACCCCAACCCCGGGAAGAAGT	0.597													C|||	132	0.0263578	0.0015	0.0144	5008	,	,		17896	0.0456		0.008	False		,,,				2504	0.0675				p.P523P		.											.	DTX1-659	0			c.C1569T						.	C		17,4389	23.3+/-48.9	0,17,2186	71	77	75		1569	-5.4	0.8	12	dbSNP_129	75	100,8500	53.6+/-114.3	1,98,4201	no	coding-synonymous	DTX1	NM_004416.2		1,115,6387	TT,TC,CC		1.1628,0.3858,0.8996		523/621	113533150	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	1840	exon8			CAACCCCGGGAAG	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.1569C>T	12.37:g.113533150C>T		Somatic	71	1		WXS	Illumina GAIIx	Phase_I	73	4	NM_004416	0	0	0	0	0	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			C|0.988;T|0.012		0.597	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			T	113533150	C	T	113533150	2	4	32	1	0	0	0	0	0	0	0	1	4807	639	23	1		1	DTX1	12	113533150	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	44380149	113533150	20318745	97	8164											
GPR81	27198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123214708	123214708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatcataaggaggaaatcaGccacggccaaattgaaaagg	11	7	2	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr12:123214708G>C	ENST00000436083.2	-	1	682	c.179C>G	c.(178-180)gCt>gGt	p.A60G	HCAR1_ENST00000432564.1_Missense_Mutation_p.A60G|HCAR1_ENST00000356987.2_Missense_Mutation_p.A60G			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	60					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GAGGAAATCAGCCACGGCCAA	0.542																																					p.A60G		.											.	HCAR1-156	0			c.C179G						.						97	89	91					12																	123214708		2203	4300	6503	SO:0001583	missense	27198	exon1			AAATCAGCCACGG	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.179C>G	12.37:g.123214708G>C	ENSP00000409980:p.Ala60Gly	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	75	68	NM_032554	0	0	0	0	0	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701134	0.88924	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.79352	-1.26;-1.26;-1.26	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.90800	0.7111	M	0.92880	3.355	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	D	0.92702	0.6175	10	0.72032	D	0.01	-5.665	16.6994	0.85344	0.0:0.0:1.0:0.0	.	60	Q9BXC0	HCAR1_HUMAN	G	60	ENSP00000349478:A60G;ENSP00000389255:A60G;ENSP00000409980:A60G	ENSP00000349478:A60G	A	-	2	0	HCAR1	121780661	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	7.725000	0.84808	2.545000	0.85829	0.655000	0.94253	GCT	.		0.542	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			C	123214708	G	C	123214708	3	2	32	1	0	0	0	0	1	0	0	0	6737	971	34	3	865	3	GPR81	12	123214708	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	9681558	123214708	10637187	98	8165											
XPO4	64328	bcgsc.ca	37	chr13	21374333	21374333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgacaaggagctgcacAgtgtcatttgcaaggtcctg	12	8	1	1	rs9579954	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr13:21374333A>G	ENST00000255305.6	-	15	2180	c.2109T>C	c.(2107-2109)acT>acC	p.T703T	XPO4_ENST00000400602.2_Silent_p.T703T			Q9C0E2	XPO4_HUMAN	exportin 4	703					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAGCTGCACAGTGTCATTTG	0.458													A|||	309	0.0617013	0.0242	0.0403	5008	,	,		19337	0		0.1382	False		,,,				2504	0.1125				p.T703T		.											.	XPO4-272	0			c.T2109C						.	A		171,3835		4,163,1836	111	108	109		2109	-3.1	0.9	13	dbSNP_119	109	1129,7213		71,987,3113	no	coding-synonymous	XPO4	NM_022459.4		75,1150,4949	GG,GA,AA		13.5339,4.2686,10.528		703/1152	21374333	1300,11048	2003	4171	6174	SO:0001819	synonymous_variant	64328	exon15			CTGCACAGTGTCA	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2109T>C	13.37:g.21374333A>G		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	118	5	NM_022459	0	0	3	3	0	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	CCDS41872.1																																																																																			A|0.912;G|0.088		0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		G	21374333	A	G	21374333	2	3	32	1	0	0	0	0	0	0	0	1	17495	175	7	4		4	XPO4	13	21374333	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10		21374333	93795545	99	8166											
SLITRK5	26050	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	88330510	88330517	+	Frame_Shift_Del	DEL	GCCAGTTC	GCCAGTTC	-													ggaaaaacagaccacgtttaGccagttctaaaagcaaagaa							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	GCCAGTTC	GCCAGTTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr13:88330510_88330517delGCCAGTTC	ENST00000325089.6	+	2	3086_3093	c.2867_2874delGCCAGTTC	c.(2866-2874)agccagttcfs	p.SQF956fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.SQF715fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	956					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACGTTTAGCCAGTTCTAAAAGCAAA	0.399																																					p.956_958del		.											.	SLITRK5-94	0			c.2867_2874del						.																																			SO:0001589	frameshift_variant	26050	exon2			CGTTTAGCCAGTT	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2867_2874delGCCAGTTC	13.37:g.88330510_88330517delGCCAGTTC	ENSP00000366283:p.Ser956fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	17	14	NM_015567	0	0	0	0	0	B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	ENST00000325089.6	37	CCDS9465.1																																																																																			.		0.399	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			-	88330517	GCCAGTTC	-	88330510	7	5	32	1	0	1	0	1	0	0	0	0	14791	971	34	0	2869	0	SLITRK5	13	88330510	Frame_Shift_Del	DEL	GCCAGTTC	TCGA-OR-A5KO-01A-11D-A29I-10	66956177	88330510	26839368	100	8167											
GAS6	2621	hgsc.bcm.edu	37	chr13	114525009	114525009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctcctgcagctgcgCggcgctcacctcgctctggc	11	19	3	0	rs144262744	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr13:114525009C>T	ENST00000327773.6	-	14	1950	c.1804G>A	c.(1804-1806)Gcg>Acg	p.A602T	GAS6_ENST00000418959.3_Missense_Mutation_p.A303T|GAS6_ENST00000357389.3_Missense_Mutation_p.A645T|GAS6_ENST00000450766.1_Missense_Mutation_p.A329T|GAS6_ENST00000355761.4_Missense_Mutation_p.A548T|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	645	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TGCAGCTGCGCGGCGCTCACC	0.711																																					p.A602T		.											.	GAS6-650	0			c.G1804A						.	T	THR/ALA,THR/ALA,THR/ALA	0,4334		0,0,2167	19	15	16		1804,985,907	-3.9	0	13	dbSNP_134	16	2,8558		0,2,4278	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	58,58,58	0,2,6445	TT,TC,CC		0.0234,0.0,0.0155	benign,benign,benign	602/679,329/406,303/380	114525009	2,12892	2167	4280	6447	SO:0001583	missense	2621	exon14			GCTGCGCGGCGCT		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1804G>A	13.37:g.114525009C>T	ENSP00000331831:p.Ala602Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	80	72	NM_000820	0	1	3	23	19	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	c	6.045	0.376665	0.11466	0.0	2.34E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	4.7	-3.86	0.04230	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.60508	0.2274	L	0.41824	1.3	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.43048	-0.9415	9	0.15066	T	0.55	-5.6457	5.0976	0.14742	0.3754:0.1833:0.0:0.4413	.	645;329;602	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	T	645;548;329;303;602	ENSP00000349962:A645T;ENSP00000348003:A548T;ENSP00000416498:A329T;ENSP00000400117:A303T;ENSP00000331831:A602T	ENSP00000331831:A602T	A	-	1	0	GAS6	113588934	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.593000	0.05740	-0.459000	0.07013	-0.355000	0.07637	GCG	C|0.999;T|0.001		0.711	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		T	114525009	C	T	114525009	3	4	32	1	0	0	0	0	1	0	0	0	6274	768	27	1	240	1	GAS6	13	114525009	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	26194499	114525009	644869	101	8168											
ZNF219	51222	hgsc.bcm.edu	37	chr14	21560706	21560706	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcacgttcgggctcCggctccggctccggctgggg	16	15	1	0	rs370417468|rs1065496	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr14:21560706C>G	ENST00000360947.3	-	3	1161	c.750G>C	c.(748-750)ccG>ccC	p.P250P	ZNF219_ENST00000451119.2_Silent_p.P250P|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Silent_p.P250P|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	250					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		gttcgggctccggctccggct	0.726											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	448	0.0894569	0.1097	0.049	5008	,	,		11470	0.0942		0.0785	False		,,,				2504	0.0971				p.P250P		.											.	ZNF219-90	0			c.G750C						.	C	,,	331,3629		14,303,1663	6	7	7		750,750,750	-8.1	0.1	14	dbSNP_86	7	434,7432		9,416,3508	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF219	NM_001101672.1,NM_001102454.1,NM_016423.2	,,	23,719,5171	GG,GC,CC		5.5174,8.3586,6.4688	,,	250/723,250/723,250/723	21560706	765,11061	1980	3933	5913	SO:0001819	synonymous_variant	51222	exon3			GGGCTCCGGCTCC	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.750G>C	14.37:g.21560706C>G		Somatic	1	0	749	WXS	Illumina GAIIx	Phase_I	37	21	NM_001102454	1	0	32	79	46	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	CCDS9568.1																																																																																			C|0.100;G|0.900		0.726	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21560706	C	G	21560706	2	3	32	1	0	0	0	0	0	0	0	1	17821	639	23	2		2	ZNF219	14	21560706	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		21560706	85788834	102	8169											
FAM161B	145483	bcgsc.ca	37	chr14	74402693	74402693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctttctcttgaacagcCcgggtgccttgacccttgtt	9	13	2	2	rs17182699	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr14:74402693C>T	ENST00000534936.1	-	8	1869	c.1764G>A	c.(1762-1764)cgG>cgA	p.R588R	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Silent_p.R651R			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	588										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTTGAACAGCCCGGGTGCCTT	0.468													C|||	219	0.04373	0.0083	0.0648	5008	,	,		18871	0		0.1123	False		,,,				2504	0.0511				p.R651R		.											.	FAM161B-91	0			c.G1953A						.	C		96,4310	78.3+/-116.7	2,92,2109	144	133	137		1953	-4.7	0	14	dbSNP_123	137	887,7713	199.4+/-243.5	56,775,3469	no	coding-synonymous	FAM161B	NM_152445.2		58,867,5578	TT,TC,CC		10.314,2.1788,7.5581		651/711	74402693	983,12023	2203	4300	6503	SO:0001819	synonymous_variant	145483	exon8			AACAGCCCGGGTG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1764G>A	14.37:g.74402693C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	183	6	NM_152445	0	0	7	7	0	B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37		119	0.05448717948717949	1	0.0020325203252032522	29	0.08011049723756906	0	0.0	89	0.11741424802110818	C	3.048	-0.196076	0.06259	0.021788	0.10314	ENSG00000156050	ENST00000556794	.	.	.	4.86	-4.65	0.03339	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.58432	P	1.999999999946489E-6	.	.	.	.	.	.	T	0.22487	-1.0215	3	.	.	.	20.474	1.6237	0.02719	0.2691:0.1841:0.099:0.4477	rs17182699;rs60311174;rs17182699	.	.	.	S	116	.	.	G	-	1	0	FAM161B	73472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.111000	0.01333	-0.712000	0.04988	-0.768000	0.03414	GGC	C|0.935;T|0.065		0.468	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		T	74402693	C	T	74402693	2	4	32	1	0	0	0	0	0	0	0	1	5492	610	22	3		3	FAM161B	14	74402693	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	52841987	74402693	32946847	103	8170											
PAPOLA	10914	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	96987355	96987355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaacaggattttaattttGggaaaactaaataacctggt	7	5	1	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr14:96987355G>T	ENST00000216277.8	+	3	415	c.195G>T	c.(193-195)ttG>ttT	p.L65F	PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557471.1_Missense_Mutation_p.L65F|PAPOLA_ENST00000557320.1_Missense_Mutation_p.L65F|PAPOLA_ENST00000392990.2_Missense_Mutation_p.L65F	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	65					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTTTAATTTTGGGAAAACTAA	0.279																																					p.L65F	NSCLC(19;254 734 11908 35501 39234)	.											.	PAPOLA-68	0			c.G195T						.						61	72	68					14																	96987355		2203	4298	6501	SO:0001583	missense	10914	exon3			AATTTTGGGAAAA	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.195G>T	14.37:g.96987355G>T	ENSP00000216277:p.Leu65Phe	Somatic	156	1		WXS	Illumina GAIIx	Phase_I	181	81	NM_001252006	0	0	79	167	88	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755362	0.69648	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	5.16	5.16	0.70880	Poly(A) polymerase, central domain (1);	0.074581	0.53938	D	0.000046	D	0.86535	0.5956	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.71184	0.952;0.972;0.972;0.916;0.972	D	0.90255	0.4296	9	0.87932	D	0	.	18.6458	0.91409	0.0:0.0:1.0:0.0	.	81;81;65;65;81	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	F	65;65;81;65;79;65	.	ENSP00000216277:L65F	L	+	3	2	PAPOLA	96057108	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.484000	0.53201	2.419000	0.82065	0.484000	0.47621	TTG	.		0.279	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			T	96987355	G	T	96987355	3	4	32	1	0	0	0	0	1	0	0	0	11468	1339	47	3	205	3	PAPOLA	14	96987355	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	22584662	96987355	10362185	104	8171											
KIAA0284	283638	broad.mit.edu	37	chr14	105359440	105359440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcaacatgcccagcAcccccgcctcgaccatctct	5	22	2	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr14:105359440A>C	ENST00000414716.3	+	14	4234	c.4006A>C	c.(4006-4008)Acc>Ccc	p.T1336P	CEP170B_ENST00000556508.1_Missense_Mutation_p.T1301P|CEP170B_ENST00000418279.1_Missense_Mutation_p.T1266P|CEP170B_ENST00000453495.1_Missense_Mutation_p.T1372P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1371						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATGCCCAGCACCCCCGCCTC	0.687																																					p.T1336P		.											.	.	0			c.A4006C						.						16	25	22					14																	105359440		2084	4203	6287	SO:0001583	missense	283638	exon14			CCCAGCACCCCCG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4006A>C	14.37:g.105359440A>C	ENSP00000404151:p.Thr1336Pro	Somatic	49	6		WXS	Illumina GAIIx	Phase_I	297	46	NM_001112726	0	1	26	30	3	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559308	0.65538	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.56103	0.5;0.62;0.48;0.63	4.45	3.25	0.37280	.	0.337000	0.26919	N	0.021828	T	0.57844	0.2081	M	0.71581	2.175	0.36088	D	0.843223	P;P;B	0.43169	0.776;0.8;0.429	P;B;B	0.47626	0.552;0.261;0.326	T	0.67122	-0.5750	10	0.87932	D	0	-24.8257	10.0086	0.41972	0.8482:0.0:0.0:0.1518	.	1336;1371;1266	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	P	1301;1336;1372;1266;4	ENSP00000451249:T1301P;ENSP00000404151:T1336P;ENSP00000407238:T1372P;ENSP00000415006:T1266P	ENSP00000404151:T1336P	T	+	1	0	KIAA0284	104430485	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.006000	0.57083	0.527000	0.28560	0.347000	0.21830	ACC	.		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		C	105359440	A	C	105359440	3	2	32	1	0	0	0	0	1	0	0	0	8193	159	6	5	4056	5	KIAA0284	14	105359440	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	8372085	105359440	1990100	105	8172											
AHNAK2	113146	bcgsc.ca	37	chr14	105410183	105410183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctccaggagtttcaTgtccacctggcgagcttgga	13	12	1	0	rs10438246	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr14:105410183T>C	ENST00000333244.5	-	7	11724	c.11605A>G	c.(11605-11607)Atg>Gtg	p.M3869V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3869			M -> V (in dbSNP:rs10438246).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGTTTCATGTCCACCTGG	0.602													.|||	2784	0.555911	0.643	0.5144	5008	,	,		18090	0.4127		0.5348	False		,,,				2504	0.637				p.M3869V		.											.	AHNAK2-47	0			c.A11605G						.	C	VAL/MET	2678,1266		920,838,214	130	137	135		11605	-2	0	14	dbSNP_119	135	4528,3782		1252,2024,879	yes	missense	AHNAK2	NM_138420.2	21	2172,2862,1093	CC,CT,TT		45.5114,32.0994,41.1947	benign	3869/5796	105410183	7206,5048	1972	4155	6127	SO:0001583	missense	113146	exon7			GTTTCATGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11605A>G	14.37:g.105410183T>C	ENSP00000353114:p.Met3869Val	Somatic	209	1		WXS	Illumina GAIIx	Phase_I	423	10	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1148	0.5256410256410257	324	0.6585365853658537	200	0.5524861878453039	222	0.3881118881118881	402	0.5303430079155673	t	0.010	-1.780679	0.00634	0.679006	0.544886	ENSG00000185567	ENST00000333244	T	0.00882	5.58	3.67	-2.03	0.07365	.	.	.	.	.	T	0.00012	0.0000	N	0.00985	-1.075	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.01834	-1.1264	8	0.12430	T	0.62	.	6.3549	0.21397	0.0:0.5117:0.1168:0.3714	rs10438246;rs59225031;rs10438246	3869	Q8IVF2	AHNK2_HUMAN	V	3869	ENSP00000353114:M3869V	ENSP00000353114:M3869V	M	-	1	0	AHNAK2	104481228	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-0.909000	0.03852	-2.717000	0.00132	ATG	T|0.456;C|0.544		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105410183	T	C	105410183	3	2	32	1	0	0	0	0	1	0	0	0	415	1464	51	4	5786	4	AHNAK2	14	105410183	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	50743	105410183	1939357	106	8173											
C15orf2	23742	hgsc.bcm.edu	37	chr15	24921176	24921176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcctgttccgccggaaCgcccgtcgcaggccttcagc	13	18	1	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr15:24921176C>T	ENST00000329468.2	+	1	636	c.162C>T	c.(160-162)aaC>aaT	p.N54N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	54					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCGCCGGAACGCCCGTCGCA	0.756																																					p.N54N		.											.	.	0			c.C162T						.						14	18	16					15																	24921176		2156	4227	6383	SO:0001819	synonymous_variant	23742	exon1			CCGGAACGCCCGT	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.162C>T	15.37:g.24921176C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	36	30	NM_018958	0	0	0	0	0		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																			.		0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921176	C	T	24921176	2	4	32	1	0	0	0	0	0	0	0	1	1789	535	19	1		1	C15orf2	15	24921176	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		24921176	77610216	107	8174											
ZNF774	342132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	90904066	90904066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagagatagttctcattttGtagctcacatgagcactcat	7	9	4	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr15:90904066G>C	ENST00000354377.3	+	4	1189	c.1003G>C	c.(1003-1005)Gta>Cta	p.V335L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	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)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCTCATTTTGTAGCTCACAT	0.512																																					p.V335L		.											.	ZNF774-90	0			c.G1003C						.						97	95	96					15																	90904066		2199	4298	6497	SO:0001583	missense	342132	exon4			CATTTTGTAGCTC	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1003G>C	15.37:g.90904066G>C	ENSP00000346348:p.Val335Leu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	40	4	NM_001004309	0	0	0	0	0	A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491096	0.26774	.	.	ENSG00000196391	ENST00000354377	T	0.07216	3.21	5.35	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32459	N	0.006072	T	0.04861	0.0131	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34004	-0.9846	10	0.44086	T	0.13	.	9.0189	0.36186	0.1781:0.0:0.8219:0.0	.	335	Q6NX45	ZN774_HUMAN	L	335	ENSP00000346348:V335L	ENSP00000346348:V335L	V	+	1	0	ZNF774	88705070	0.000000	0.05858	0.002000	0.10522	0.973000	0.67179	0.011000	0.13264	1.263000	0.44181	0.555000	0.69702	GTA	.		0.512	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		C	90904066	G	C	90904066	3	2	32	1	0	0	0	0	1	0	0	0	18195	1377	48	3	1013	3	ZNF774	15	90904066	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	65982890	90904066	11627326	108	8175											
CACNA1H	8912	hgsc.bcm.edu	37	chr16	1252124	1252124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctggcgcgcccccctcGccaccttccccaggccgcgg	12	22	0	0			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:1252124G>A	ENST00000348261.5	+	9	1922	c.1674G>A	c.(1672-1674)tcG>tcA	p.S558S	CACNA1H_ENST00000565831.1_Silent_p.S558S|CACNA1H_ENST00000358590.4_Silent_p.S558S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	558					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGCCCCCCTCGCCACCTTCCC	0.721																																					p.S558S		.											.	CACNA1H-67	0			c.G1674A						.						2	2	2					16																	1252124		1236	3053	4289	SO:0001819	synonymous_variant	8912	exon9			CCCCTCGCCACCT	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1674G>A	16.37:g.1252124G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	36	17	NM_021098	0	0	3	7	4	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																			.		0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1252124	G	A	1252124	2	1	32	1	0	0	0	0	0	0	0	1	2552	1074	38	1		1	CACNA1H	16	1252124	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10		1252124	89102629	109	8176											
TPSAB1	7177	bcgsc.ca	37	chr16	1291622	1291622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccacgtccacacggtcAccctgccccctgcctcagag	8	21	2	1	rs149113013	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:1291622A>G	ENST00000338844.3	+	4	454	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	TPSAB1_ENST00000461509.2_Missense_Mutation_p.T148A	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> A (in dbSNP:rs1800992). {ECO:0000269|PubMed:10898108}.|T -> M (in allele alpha).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCACACGGTCACCCTGCCCCC	0.662													A|||	1009	0.201478	0.2874	0.2695	5008	,	,		17793	0.1171		0.1918	False		,,,				2504	0.1339				p.T141A		.											.	TPSAB1-22	0			c.A421G						.						30	25	26					16																	1291622		2198	4297	6495	SO:0001583	missense	7177	exon4			ACGGTCACCCTGC	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.421A>G	16.37:g.1291622A>G	ENSP00000343577:p.Thr141Ala	Somatic	91	8		WXS	Illumina GAIIx	Phase_I	662	204	NM_003294	0	0	0	0	0	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	448	0.20512820512820512	154	0.3130081300813008	86	0.23756906077348067	75	0.13111888111888112	133	0.17546174142480211	A	0.171	-1.071903	0.01918	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.80994	-1.44;-1.44	3.74	0.17	0.15021	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.872655	0.09671	N	0.771165	T	0.00012	0.0000	N	0.03268	-0.37	0.45477	P	0.0015540000000000553	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06463	-1.0825	9	0.33141	T	0.24	.	7.8036	0.29189	0.3416:0.0:0.0:0.6584	.	132;141	Q15661-2;Q15661	.;TRYB1_HUMAN	A	141;148	ENSP00000343577:T141A;ENSP00000418247:T148A	ENSP00000343577:T141A	T	+	1	0	TPSAB1	1231623	0.000000	0.05858	0.458000	0.27068	0.169000	0.22640	0.545000	0.23268	0.161000	0.19458	0.392000	0.25879	ACC	G|1.000;|0.000		0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		G	1291622	A	G	1291622	3	3	32	1	0	0	0	0	1	0	0	0	16471	159	6	4	431	4	TPSAB1	16	1291622	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	39498	1291622	89063131	110	8177											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304463	3304463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgtttctgcgcagcCggacctcggcctggcccccc	13	18	1	0	rs224222	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:3304463C>T	ENST00000219596.1	-	2	644	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	202			R -> Q (in dbSNP:rs224222). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9668175}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCTGCGCAGCCGGACCTCGGC	0.771													C|||	681	0.135982	0.0363	0.3242	5008	,	,		10819	0.0308		0.2783	False		,,,				2504	0.0992				p.R202Q		.											.	MEFV-228	0			c.G605A	GRCh37	CM044663	MEFV	M	rs224222	.	C	GLN/ARG,	280,4020		7,266,1877	9	11	10		605,	-5.2	0	16	dbSNP_79	10	1996,6326		253,1490,2418	no	missense,intron	MEFV	NM_000243.2,NM_001198536.1	43,	260,1756,4295	TT,TC,CC		23.9846,6.5116,18.032	benign,	202/782,	3304463	2276,10346	2150	4161	6311	SO:0001583	missense	4210	exon2			CGCAGCCGGACCT	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.605G>A	16.37:g.3304463C>T	ENSP00000219596:p.Arg202Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	367	0.16804029304029305	20	0.04065040650406504	120	0.3314917127071823	18	0.03146853146853147	209	0.2757255936675462	C	1.316	-0.600781	0.03744	0.065116	0.239846	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.62364	0.03	4.79	-5.23	0.02798	.	2.737930	0.01004	N	0.003723	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.15896	-1.0421	9	0.02654	T	1	-27.8034	1.8616	0.03189	0.114:0.2357:0.2258:0.4246	rs224222	202	O15553	MEFV_HUMAN	Q	202	ENSP00000219596:R202Q	ENSP00000219596:R202Q	R	-	2	0	MEFV	3244464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.420000	0.01032	-1.150000	0.02840	-2.943000	0.00086	CGG	C|0.816;T|0.184		0.771	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304463	C	T	3304463	3	4	32	1	0	0	0	0	1	0	0	0	9497	652	23	1	1776	1	MEFV	16	3304463	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	2012841	3304463	87050290	111	8178											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	32	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	110	3304573	87050180	112	8179											
SMG1	23049	hgsc.bcm.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1	rs190057031	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	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						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002				p.S12G		.											.	SMG1-1160	0			c.A34G						.						3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	23049	exon1			CGCCGCTGCTCAG	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.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	47	23	NM_015092	0	0	1	7	6	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC	T|0.974;C|0.026		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		C	18937330	T	C	18937330	3	2	32	1	0	0	0	0	1	0	0	0	14840	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	15632757	18937330	71417423	113	8180											
PDILT	204474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20384188	20384188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgataccatatgactcggagCttttggagacaaacagcagc	10	9	0	3	rs193085306		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:20384188C>A	ENST00000302451.4	-	7	1102	c.854G>T	c.(853-855)aGc>aTc	p.S285I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	285					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGACTCGGAGCTTTTGGAGAC	0.428																																					p.S285I		.											.	PDILT-153	0			c.G854T						.						119	112	114					16																	20384188		2203	4300	6503	SO:0001583	missense	204474	exon7			TCGGAGCTTTTGG		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.854G>T	16.37:g.20384188C>A	ENSP00000305465:p.Ser285Ile	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	173	78	NM_174924	0	0	0	0	0	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077631	0.36662	.	.	ENSG00000169340	ENST00000302451	T	0.14640	2.49	5.02	-3.91	0.04168	Thioredoxin-like fold (1);	0.474866	0.27143	N	0.020727	T	0.17280	0.0415	L	0.54323	1.7	0.23126	N	0.998255	D	0.55800	0.973	P	0.54590	0.756	T	0.06356	-1.0831	10	0.72032	D	0.01	.	6.5492	0.22423	0.0:0.2223:0.4044:0.3733	.	285	Q8N807	PDILT_HUMAN	I	285	ENSP00000305465:S285I	ENSP00000305465:S285I	S	-	2	0	PDILT	20291689	0.789000	0.28775	0.063000	0.19743	0.184000	0.23303	-0.366000	0.07563	-0.494000	0.06669	0.563000	0.77884	AGC	C|0.999;T|0.000		0.428	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20384188	C	A	20384188	3	1	32	1	0	0	0	0	1	0	0	0	11713	797	28	3	924	3	PDILT	16	20384188	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1446858	20384188	69970565	114	8181											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	32	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	9524245	29908433	60446320	115	8182											
FBXL19	54620	hgsc.bcm.edu	37	chr16	30937068	30937068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccctcggcgttgctgaCgcccccaatgtcgtcgagca	11	16	0	1	rs551914906		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:30937068C>T	ENST00000380310.2	+	2	211	c.53C>T	c.(52-54)aCg>aTg	p.T18M	FBXL19_ENST00000565690.1_5'UTR|FBXL19_ENST00000338343.4_5'UTR|FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000471231.2_Intron|FBXL19_ENST00000562319.1_5'UTR	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	18					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCGTTGCTGACGCCCCCAATG	0.736													C|||	1	0.000199681	0	0	5008	,	,		11368	0.001		0	False		,,,				2504	0				p.T18M		.											.	FBXL19-661	0			c.C53T						.						2	2	2					16																	30937068		1194	2599	3793	SO:0001583	missense	54620	exon2			TGCTGACGCCCCC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.53C>T	16.37:g.30937068C>T	ENSP00000369666:p.Thr18Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	9	NM_001099784	0	0	0	0	0	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759449	0.89932	.	.	ENSG00000099364	ENST00000380310	T	0.18810	2.19	4.65	4.65	0.58169	.	.	.	.	.	T	0.27169	0.0666	N	0.08118	0	0.31783	N	0.630612	D	0.89917	1.0	D	0.78314	0.991	T	0.36335	-0.9752	9	0.72032	D	0.01	.	14.4308	0.67249	0.0:1.0:0.0:0.0	.	18	Q6PCT2	FXL19_HUMAN	M	18	ENSP00000369666:T18M	ENSP00000369666:T18M	T	+	2	0	FBXL19	30844569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.601000	0.54059	2.123000	0.65237	0.462000	0.41574	ACG	.		0.736	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30937068	C	T	30937068	3	4	32	1	0	0	0	0	1	0	0	0	5737	536	19	1	59	1	FBXL19	16	30937068	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1028635	30937068	59417685	116	8183											
ARMC5	79798	hgsc.bcm.edu	37	chr16	31476186	31476186	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccacgtgcccggcccactctCcacagccggcaccgagagct	10	20	1	1	rs55800131	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:31476186C>G	ENST00000563544.1	+	5	2388	c.1842C>G	c.(1840-1842)ctC>ctG	p.L614L	ARMC5_ENST00000408912.3_Silent_p.L709L|ARMC5_ENST00000268314.4_Silent_p.L614L|ARMC5_ENST00000412665.2_Silent_p.L258L|ARMC5_ENST00000457010.2_Silent_p.L614L|ARMC5_ENST00000538189.1_Silent_p.L646L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	614										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCCCACTCTCCACAGCCGGC	0.697													C|||	165	0.0329473	0.0068	0.0504	5008	,	,		12908	0.0069		0.0845	False		,,,				2504	0.0297				p.L614L		.											.	ARMC5-24	0			c.C1842G						.	C	,	79,4117		0,79,2019	19	22	21		1842,1842	-3.4	0	16	dbSNP_129	21	781,7673		36,709,3482	no	coding-synonymous,coding-synonymous	ARMC5	NM_001105247.1,NM_024742.2	,	36,788,5501	GG,GC,CC		9.2382,1.8827,6.7984	,	614/936,614/726	31476186	860,11790	2098	4227	6325	SO:0001819	synonymous_variant	79798	exon4			CACTCTCCACAGC	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.1842C>G	16.37:g.31476186C>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_024742	0	0	7	12	5	Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	CCDS45472.1																																																																																			C|0.940;G|0.060		0.697	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		G	31476186	C	G	31476186	2	3	32	1	0	0	0	0	0	0	0	1	955	842	30	3		3	ARMC5	16	31476186	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	539118	31476186	58878567	117	8184											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	32	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	26086618	57562804	32791949	118	8185											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																					p.619_619del		.											.	EDC4-92	0			c.1855_1857del						.																																			SO:0001651	inframe_deletion	23644	exon16			AGCGGTAGCAGCA	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	110	6	NM_014329	0	0	0	0	0	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	CCDS10849.1																																																																																			.		0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		-	67913788	AGC	-	67913786	7	5	32	1	0	1	0	1	0	0	0	0	4922	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-OR-A5KO-01A-11D-A29I-10	10350982	67913786	22440967	119	8186											
ADAMTS18	170692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	77389876	77389876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggcggctgcaggaagacCatgaaaacactccattgttt	10	10	0	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:77389876C>A	ENST00000282849.5	-	9	1839	c.1421G>T	c.(1420-1422)tGg>tTg	p.W474L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	474	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						GCAGGAAGACCATGAAAACAC	0.478																																					p.W474L		.											.	ADAMTS18-1036	0			c.G1421T						.						120	104	109					16																	77389876		2198	4300	6498	SO:0001583	missense	170692	exon9			GAAGACCATGAAA	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.1421G>T	16.37:g.77389876C>A	ENSP00000282849:p.Trp474Leu	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	172	88	NM_199355	0	0	0	0	0	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110396	0.77210	.	.	ENSG00000140873	ENST00000282849	T	0.10099	2.91	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60229	-0.7304	10	0.87932	D	0	.	18.2505	0.90000	0.0:1.0:0.0:0.0	.	474;474	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	474	ENSP00000282849:W474L	ENSP00000282849:W474L	W	-	2	0	ADAMTS18	75947377	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	TGG	.		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77389876	C	A	77389876	3	1	32	1	0	0	0	0	1	0	0	0	263	595	21	3	2304	3	ADAMTS18	16	77389876	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	9476090	77389876	12964877	120	8187											
C16orf3	2622	bcgsc.ca	37	chr16	90095573	90095573	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctacggggcaggctaCggggcagcttacggggcagg	19	11	0	0	rs77382359		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr16:90095573C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V60I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctacggggcagctt	0.672																																					p.V60I		.											.	C16orf3-90	0			c.G178A						.						22	20	21					16																	90095573		2194	4299	6493	SO:0001627	intron_variant	750	exon1			AGGCTACGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1443C>T	16.37:g.90095573C>T		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	59	8	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788068	0.02884	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	I	60	ENSP00000386218:V60I	.	V	-	1	0	C16orf3	88623074	0.031000	0.19500	0.015000	0.15790	0.017000	0.09413	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA	C|0.500;T|0.500		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095573	C	T	90095573	1	4	32	0	1	0	0	0	0	0	0	0	1817	536	19	1		1	C16orf3	16	90095573	Intron	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	12705697	90095573	259180	121	8188											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attcagctctcggaacatctCgaagcgctcacgcccacgga	9	15	4	0	rs17882252	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	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	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	CGGAACATCTCGAAGCGCTCA	0.537		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.E339X	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(1)	c.G1015T	GRCh37	CM984588	TP53	M	rs17882252	.						59	46	51					17																	7574012		2203	4300	6503	SO:0001587	stop_gained	7157	exon10	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;	ACATCTCGAAGCG	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.1015G>T	17.37:g.7574012C>A	ENSP00000269305:p.Glu339*	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	105	89	NM_000546	0	0	0	3	3	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547605	0.96488	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.44	0.53790	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.4901	10.1064	0.42535	0.0:0.8944:0.0:0.1056	.	.	.	.	X	339;339;328	.	ENSP00000269305:E339X	E	-	1	0	TP53	7514737	0.991000	0.36638	0.794000	0.32065	0.424000	0.31475	2.924000	0.48876	1.194000	0.43101	0.561000	0.74099	GAG	C|0.994;T|0.006		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574012	C	A	7574012	4	1	32	1	0	0	0	0	0	1	0	0	16429	893	31	2	174	2	TP53	17	7574012	Nonsense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		7574012	73621198	122	8189											
KCNJ12	3768	ucsc.edu;bcgsc.ca	37	chr17	21319943	21319943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggccctacagacgggAgtcagagatctgagccaacc	13	13	2	3	rs5021699	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr17:21319943A>G	ENST00000583088.1	+	3	2184	c.1289A>G	c.(1288-1290)gAg>gGg	p.E430G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E430G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	430			E -> G (in dbSNP:rs5021699).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACAGACGGGAGTCAGAGATC	0.701										Prostate(3;0.18)																											p.E430G		.											.	.	0			c.A1289G						.																																			SO:0001583	missense	100134444	exon3			GACGGGAGTCAGA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1289A>G	17.37:g.21319943A>G	ENSP00000463778:p.Glu430Gly	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	59	18	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515652	0.64634	.	.	ENSG00000184185	ENST00000331718	D	0.90197	-2.63	5.41	5.41	0.78517	.	0.381500	0.26680	N	0.023059	D	0.94699	0.8290	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94947	0.8096	10	0.59425	D	0.04	.	15.4536	0.75297	1.0:0.0:0.0:0.0	rs5021699	430	Q14500	IRK12_HUMAN	G	430	ENSP00000328150:E430G	ENSP00000328150:E430G	E	+	2	0	KCNJ12	21260536	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.091000	0.94151	2.066000	0.61787	0.528000	0.53228	GAG	A|0.600;G|0.400		0.701	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		G	21319943	A	G	21319943	3	3	32	1	0	0	0	0	1	0	0	0	8073	304	11	4	1291	4	KCNJ12	17	21319943	Missense_Mutation	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	13745931	21319943	59875267	123	8190											
NOS2	4843	bcgsc.ca	37	chr17	26089867	26089867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtcaggtggatctcTgtgggcgtgtgatcccggga	16	10	2	1	rs1060826	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr17:26089867T>C	ENST00000313735.6	-	22	2990	c.2757A>G	c.(2755-2757)acA>acG	p.T919T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	919	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGTGGATCTCTGTGGGCGTGT	0.627													.|||	3655	0.729832	0.8041	0.6484	5008	,	,		17935	0.6696		0.6153	False		,,,				2504	0.8671				p.T919T		.											.	NOS2-156	0			c.A2757G						.	C		3346,1018		1294,758,130	21	17	18	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2757	-2.6	0	17	dbSNP_86	18	5268,3310		1667,1934,688	no	coding-synonymous	NOS2	NM_000625.4		2961,2692,818	CC,CT,TT		38.5871,23.3272,33.4415		919/1154	26089867	8614,4328	2182	4289	6471	SO:0001819	synonymous_variant	4843	exon22			GATCTCTGTGGGC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2757A>G	17.37:g.26089867T>C		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	77	5	NM_000625	0	0	0	0	0	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																			T|0.303;C|0.697		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		C	26089867	T	C	26089867	2	2	32	1	0	0	0	0	0	0	0	1	10582	1567	55	4		4	NOS2	17	26089867	Silent	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	4769924	26089867	55105343	124	8191											
C17orf66	256957	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	34190106	34190106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtttgatgagagcccGgatcacatgcttattcaggc	11	10	2	2	rs142219051		TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr17:34190106G>T	ENST00000311880.2	-	8	797	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	C17orf66_ENST00000592980.1_Silent_p.R177R|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		217					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATGAGAGCCCGGATCACATGC	0.537																																					p.R217R		.											.	C17orf66-155	0			c.C649A						.						132	125	127					17																	34190106		2203	4300	6503	SO:0001819	synonymous_variant	256957	exon8			GAGCCCGGATCAC																												ENST00000311880.2:c.649C>A	17.37:g.34190106G>T		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	44	4	NM_152781	0	0	0	0	0	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																			G|1.000;A|0.000		0.537	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			T	34190106	G	T	34190106	2	4	32	1	0	0	0	0	0	0	0	1	1880	1115	39	2		2	C17orf66	17	34190106	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	8100239	34190106	47005104	125	8192											
ASPSCR1	79058	hgsc.bcm.edu	37	chr17	79974915	79974916	+	Frame_Shift_Del	DEL	CT	CT	-													ggagggggcgctggtcccccCtgagcccatcccagggacgg							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr17:79974915_79974916delCT	ENST00000306739.4	+	15	1671_1672	c.1574_1575delCT	c.(1573-1575)cctfs	p.P525fs	ASPSCR1_ENST00000582404.1_3'UTR|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Frame_Shift_Del_p.P473fs|ASPSCR1_ENST00000306729.7_Frame_Shift_Del_p.P619fs	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	525					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGTCCCCCCTGAGCCCATCC	0.688			T	TFE3	alveolar soft part sarcoma																																p.619_619del		.		Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	.	ASPSCR1-877	0			c.1856_1857del						.			13,4237		0,13,2112						1.7	0			23	4,8234		0,4,4115	no	frameshift	ASPSCR1	NM_024083.2		0,17,6227	A1A1,A1R,RR		0.0486,0.3059,0.1361				17,12471				SO:0001589	frameshift_variant	79058	exon16			TCCCCCCTGAGCC	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1574_1575delCT	17.37:g.79974915_79974916delCT	ENSP00000302176:p.Pro525fs	Somatic	7	3		WXS	Illumina GAIIx	Phase_I	44	39	NM_001251888	0	0	0	0	0	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Frame_Shift_Del	DEL	ENST00000306739.4	37	CCDS11796.1																																																																																			.		0.688	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		-	79974916	CT	-	79974915	7	5	32	1	0	1	0	1	0	0	0	0	1060	681	24	0	1632	0	ASPSCR1	17	79974915	Frame_Shift_Del	DEL	CT	TCGA-OR-A5KO-01A-11D-A29I-10	45784809	79974915	1220295	126	8193											
MYL12B	103910	broad.mit.edu;bcgsc.ca	37	chr18	3277813	3277813	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctgacaaccatgggggatCggtttacagatgaggaagtg	15	6	0	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr18:3277813C>A	ENST00000581193.1	+	4	780	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	MYL12B_ENST00000400175.5_Silent_p.R133R|MYL12B_ENST00000237500.5_Silent_p.R133R|MYL12B_ENST00000584539.1_Silent_p.R133R	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	133	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						CATGGGGGATCGGTTTACAGA	0.443																																					p.R133R		.											.	MYL12B-90	0			c.C397A						.						64	57	59					18																	3277813		2203	4300	6503	SO:0001819	synonymous_variant	103910	exon4			GGGGATCGGTTTA	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"Myosins / Light chain", "EF-hand domain containing"	29827	protein-coding gene	gene with protein product	"myosin regulatory light chain 2"	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.397C>A	18.37:g.3277813C>A		Somatic	223	1		WXS	Illumina GAIIx	Phase_I	236	11	NM_033546	0	0	1461	1467	6	D3DUH6|Q13182|Q7Z5Z4	Silent	SNP	ENST00000581193.1	37	CCDS11831.1																																																																																			.		0.443	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		A	3277813	C	A	3277813	2	1	32	1	0	0	0	0	0	0	0	1	10084	875	31	2		2	MYL12B	18	3277813	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		3277813	74799435	127	8194											
CHST9	83539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	24497051	24497051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggtctcctcagttttcttCcatttattatctttgactaa	5	9	4	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr18:24497051C>A	ENST00000284224.8	-	6	781	c.504G>T	c.(502-504)tgG>tgT	p.W168C	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.W168C|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	168					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CAGTTTTCTTCCATTTATTAT	0.388																																					p.W168C		.											.	CHST9-93	0			c.G504T						.						130	123	125					18																	24497051		1833	4075	5908	SO:0001583	missense	83539	exon6			TTTCTTCCATTTA	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.504G>T	18.37:g.24497051C>A	ENSP00000284224:p.Trp168Cys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	53	45	NM_031422	0	0	0	0	0	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137765	0.56936	.	.	ENSG00000154080	ENST00000284224	T	0.65549	-0.16	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000003	T	0.73297	0.3569	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.72606	-0.4242	10	0.59425	D	0.04	-9.9904	20.8598	0.99761	0.0:1.0:0.0:0.0	.	168	Q7L1S5	CHST9_HUMAN	C	168	ENSP00000284224:W168C	ENSP00000284224:W168C	W	-	3	0	CHST9	22751049	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.264000	0.72527	2.937000	0.99478	0.650000	0.86243	TGG	.		0.388	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		A	24497051	C	A	24497051	3	1	32	1	0	0	0	0	1	0	0	0	3418	856	30	3	831	3	CHST9	18	24497051	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	21219238	24497051	53580197	128	8195											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_019112	0	0	0	5	5	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	32	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		1065044	58063939	129	8196											
ZNF77	58492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	2934196	2934196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcctcacgtgatctctaaagGaggagtaacagctgaatgat	10	8	2	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:2934196G>C	ENST00000314531.4	-	4	1021	c.929C>G	c.(928-930)tCc>tGc	p.S310C		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCTAAAGGAGGAGTAACA	0.453																																					p.S310C		.											.	ZNF77-91	0			c.C929G						.						183	165	171					19																	2934196		2203	4300	6503	SO:0001583	missense	58492	exon4			CTAAAGGAGGAGT	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.929C>G	19.37:g.2934196G>C	ENSP00000319053:p.Ser310Cys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	275	115	NM_021217	0	0	2	7	5	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961149	0.34565	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.01059	5.39	2.58	-3.63	0.04529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	M	0.67569	2.06	0.09310	N	1	D	0.69078	0.997	P	0.61477	0.889	T	0.18147	-1.0346	9	0.54805	T	0.06	.	5.4072	0.16328	0.1128:0.0:0.4323:0.4548	.	310	Q15935	ZNF77_HUMAN	C	104;310	ENSP00000319053:S310C	ENSP00000319053:S310C	S	-	2	0	ZNF77	2885196	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.738000	0.04871	-0.596000	0.05821	0.491000	0.48974	TCC	.		0.453	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		C	2934196	G	C	2934196	3	2	32	1	0	0	0	0	1	0	0	0	18190	1174	41	3	712	3	ZNF77	19	2934196	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	1869152	2934196	56194787	130	8197											
ANKRD24	170961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4216002	4216002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaatactagctatgacGtaaccaccctgcaggatgag	12	9	0	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:4216002G>A	ENST00000600132.1	+	16	1501	c.1225G>A	c.(1225-1227)Gta>Ata	p.V409I	ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Missense_Mutation_p.V499I|ANKRD24_ENST00000318934.4_Missense_Mutation_p.V409I	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	409										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)		TAGCTATGACGTAACCACCCT	0.652																																					p.V409I		.											.	ANKRD24-68	0			c.G1225A						.						31	37	35					19																	4216002		2044	4176	6220	SO:0001583	missense	170961	exon16			TATGACGTAACCA	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.1225G>A	19.37:g.4216002G>A	ENSP00000471252:p.Val409Ile	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	119	54	NM_133475	0	0	5	5	0	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	6.463	0.453598	0.12283	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.34859	1.34;1.39	4.46	4.46	0.54185	.	0.000000	0.29987	U	0.010694	T	0.19127	0.0459	L	0.27053	0.805	0.24684	N	0.993349	P;P	0.51351	0.906;0.944	B;B	0.40506	0.178;0.331	T	0.15578	-1.0432	10	0.05721	T	0.95	-35.0901	8.2914	0.31960	0.1075:0.0:0.8925:0.0	.	409;499	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	I	409;499	ENSP00000321731:V409I;ENSP00000262970:V499I	ENSP00000262970:V499I	V	+	1	0	ANKRD24	4167002	0.996000	0.38824	0.981000	0.43875	0.045000	0.14185	2.931000	0.48932	2.324000	0.78689	0.491000	0.48974	GTA	.		0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		A	4216002	G	A	4216002	3	1	32	1	0	0	0	0	1	0	0	0	653	1145	40	1	1283	1	ANKRD24	19	4216002	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	1281806	4216002	54912981	131	8198											
ICAM3	3385	bcgsc.ca	37	chr19	10450285	10450285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacggatggtaccatggtGgccattctgacagaggaagg	14	8	1	2	rs281414	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:10450285G>A	ENST00000160262.5	-	1	214	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	2					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GTACCATGGTGGCCATTCTGA	0.632													G|||	759	0.151558	0.2632	0.121	5008	,	,		17884	0.0744		0.166	False		,,,				2504	0.0869				p.A2A		.											.	ICAM3-131	0			c.C6T						.	G		1021,3385	368.3+/-318.6	102,817,1284	50	46	48		6	-0.1	0.3	19	dbSNP_79	48	1497,7103	275.7+/-291.9	137,1223,2940	no	coding-synonymous	ICAM3	NM_002162.3		239,2040,4224	AA,AG,GG		17.407,23.1729,19.3603		2/548	10450285	2518,10488	2203	4300	6503	SO:0001819	synonymous_variant	3385	exon1			CATGGTGGCCATT		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.6C>T	19.37:g.10450285G>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	80	6	NM_002162	0	0	3	3	0	Q6PD68	Silent	SNP	ENST00000160262.5	37	CCDS12235.1																																																																																			G|0.827;A|0.173		0.632	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			A	10450285	G	A	10450285	2	1	32	1	0	0	0	0	0	0	0	1	7508	1335	47	3		3	ICAM3	19	10450285	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	6234283	10450285	48678698	132	8199											
LPHN1	22859	broad.mit.edu	37	chr19	14272185	14272186	+	Frame_Shift_Ins	INS	-	-	C													gctgggtggccggccactggINSacccgccgtacctctcgggg							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:14272185_14272186insC	ENST00000340736.6	-	7	1760_1761	c.1463_1464insG	c.(1462-1464)gtcfs	p.V488fs	LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.V483fs|LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	488					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						CCGGCCACTGGACCCGCCGTAC	0.713																																					p.V488fs		.											.	LPHN1-523	0			c.1464_1465insG						.																																			SO:0001589	frameshift_variant	22859	exon7			CCACTGGACCCGC	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.1463_1464insG	19.37:g.14272185_14272186insC	ENSP00000340688:p.Val488fs	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	112	6	NM_001008701	0	0	0	0	0	Q96IE7|Q9BU07|Q9HAR3	Frame_Shift_Ins	INS	ENST00000340736.6	37	CCDS32928.1																																																																																			.		0.713	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		C	14272186	-	C	14272185	7	5	32	1	0	1	1	0	0	0	0	0	8950	1161	41	0	3032	0	LPHN1	19	14272185	Frame_Shift_Ins	INS	-	TCGA-OR-A5KO-01A-11D-A29I-10	3821900	14272185	44856798	133	8200											
OCEL1	79629	hgsc.bcm.edu	37	chr19	17337555	17337555	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgacgccccccgcaggacCcgcccatcagcccggaaacc	9	22	1	0	rs3745163	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:17337555C>A	ENST00000215061.4	+	2	167	c.123C>A	c.(121-123)acC>acA	p.T41T	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Silent_p.T41T|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	41	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCGCAGGACCCGCCCATCAG	0.746													C|||	1146	0.228834	0.1702	0.2522	5008	,	,		10081	0.4018		0.2018	False		,,,				2504	0.1411				p.T41T		.											.	OCEL1-68	0			c.C123A						.	C		573,3093		51,471,1311	4	6	5		123	-3.2	0	19	dbSNP_107	5	1379,6017		128,1123,2447	no	coding-synonymous	OCEL1	NM_024578.1		179,1594,3758	AA,AC,CC		18.6452,15.6301,17.646		41/265	17337555	1952,9110	1833	3698	5531	SO:0001819	synonymous_variant	79629	exon2			CAGGACCCGCCCA	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.123C>A	19.37:g.17337555C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_024578	0	0	3	15	12		Silent	SNP	ENST00000215061.4	37	CCDS12351.1																																																																																			C|0.734;A|0.266		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		A	17337555	C	A	17337555	2	1	32	1	0	0	0	0	0	0	0	1	10855	610	22	3		3	OCEL1	19	17337555	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	3065370	17337555	41791428	134	8201											
ZNF546	339327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	40520223	40520223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaactaactgaacatcaaaGaattcatactggtgagaggc	8	8	3	3			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:40520223G>T	ENST00000347077.4	+	7	1262	c.1046G>T	c.(1045-1047)aGa>aTa	p.R349I	ZNF546_ENST00000600094.1_Missense_Mutation_p.R323I|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)					GAACATCAAAGAATTCATACT	0.383																																					p.R349I		.											.	ZNF546-155	0			c.G1046T						.						81	83	83					19																	40520223		2203	4300	6503	SO:0001583	missense	339327	exon7			ATCAAAGAATTCA	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.1046G>T	19.37:g.40520223G>T	ENSP00000339823:p.Arg349Ile	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	160	78	NM_178544	0	0	0	0	0	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937060	0.52972	.	.	ENSG00000187187	ENST00000347077	T	0.24908	1.83	2.57	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44201	0.1282	M	0.64170	1.965	0.42028	D	0.991012	D;D	0.76494	0.974;0.999	B;D	0.70935	0.248;0.971	T	0.48031	-0.9070	9	0.87932	D	0	.	11.2908	0.49250	0.0:0.0:1.0:0.0	.	323;349	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	349	ENSP00000339823:R349I	ENSP00000339823:R349I	R	+	2	0	ZNF546	45212063	0.000000	0.05858	0.995000	0.50966	0.979000	0.70002	-0.348000	0.07740	1.722000	0.51474	0.655000	0.94253	AGA	.		0.383	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		T	40520223	G	T	40520223	3	4	32	1	0	0	0	0	1	0	0	0	18026	942	33	3	1064	3	ZNF546	19	40520223	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	23182668	40520223	18608760	135	8202											
POU2F2	5452	broad.mit.edu	37	chr19	42596242	42596243	+	Frame_Shift_Ins	INS	-	-	A													cgtgctggggttcaggcctgINSacaagccgatagccgagtgg							TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:42596242_42596243insA	ENST00000526816.2	-	13	1393_1394	c.1378_1379insT	c.(1378-1380)tcafs	p.S460fs	POU2F2_ENST00000529952.1_Frame_Shift_Ins_p.S460fs|POU2F2_ENST00000342301.4_Frame_Shift_Ins_p.S460fs|POU2F2_ENST00000529067.1_Frame_Shift_Ins_p.Q399fs|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.S466fs|POU2F2_ENST00000533720.1_Frame_Shift_Ins_p.S444fs|POU2F2_ENST00000560558.1_Frame_Shift_Ins_p.S405fs|POU2F2_ENST00000389341.5_Frame_Shift_Ins_p.S444fs			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	460					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GTTCAGGCCTGACAAGCCGATA	0.653																																					p.S460fs		.											.	POU2F2-227	0			c.1379_1380insT						.																																			SO:0001589	frameshift_variant	5452	exon13			AGGCCTGACAAGC		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1379dupT	19.37:g.42596243_42596243dupA	ENSP00000431603:p.Ser460fs	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	126	6	NM_001207025	0	0	0	0	0	Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	CCDS56095.1																																																																																			.		0.653	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42596243	-	A	42596242	7	5	32	1	0	1	1	0	0	0	0	0	12311	1294	45	0	68	0	POU2F2	19	42596242	Frame_Shift_Ins	INS	-	TCGA-OR-A5KO-01A-11D-A29I-10	2076019	42596242	16532741	136	8203											
LILRA6	79168	bcgsc.ca	37	chr19	54746589	54746589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagcagggctgtgagGgcgggcgtcatggcgtctcc	19	10	2	2	rs199943671	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:54746589G>A	ENST00000396365.2	-	1	51	c.12C>T	c.(10-12)gcC>gcT	p.A4A	LILRA6_ENST00000440558.2_Silent_p.A4A|LILRB3_ENST00000407860.2_Silent_p.A4A|LILRA6_ENST00000245621.5_Silent_p.A4A|LILRA6_ENST00000419410.2_Silent_p.A4A|LILRA6_ENST00000391735.3_Silent_p.A4A|LILRA6_ENST00000270464.5_Silent_p.A4A	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	4					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTGTGAGGGCGGGCGTCA	0.642													.|||	21	0.00419329	0	0.0115	5008	,	,		16212	0		0.0109	False		,,,				2504	0.002				p.A4A		.											.	LILRA6-24	0			c.C12T						.	G		10,4274		1,8,2133	70	65	67		12	-2.9	0	19	dbSNP_134	67	78,8456		10,58,4199	no	coding-synonymous	LILRA6	NM_024318.2		11,66,6332	AA,AG,GG		0.914,0.2334,0.6865		4/482	54746589	88,12730	2142	4267	6409	SO:0001819	synonymous_variant	79168	exon1			TGTGAGGGCGGGC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.12C>T	19.37:g.54746589G>A		Somatic	206	2		WXS	Illumina GAIIx	Phase_I	487	13	NM_024318	0	0	0	0	0		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																			G|0.995;A|0.005		0.642	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54746589	G	A	54746589	2	1	32	1	0	0	0	0	0	0	0	1	8818	1219	43	3		3	LILRA6	19	54746589	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	12150347	54746589	4382394	137	8204											
GP6	51206	hgsc.bcm.edu	37	chr19	55525497	55525497	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtattttttgagacaaAgtcaggcttcgtcacccgag	9	11	2	1	rs1671150	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr19:55525497A>G	ENST00000417454.1	-	0	1839				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000310373.3_Missense_Mutation_p.F606L|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		tttgagacaaagtcaggcttc	0.478													G|||	3639	0.726637	0.5325	0.8242	5008	,	,		18456	0.8125		0.8459	False		,,,				2504	0.7086				p.F606L		.											.	GP6-92	0			c.T1816C						.	G	,LEU/PHE	2061,985		678,705,140	2	2	2		,1816	-0.5	0	19	dbSNP_89	2	5295,789		2317,661,64	no	utr-3,missense	GP6	NM_016363.4,NM_001083899.1	,22	2995,1366,204	GG,GA,AA		12.9684,32.3375,19.4304	,benign	,606/621	55525497	7356,1774	1523	3042	4565	SO:0001624	3_prime_UTR_variant	51206	exon8			AGACAAAGTCAGG	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*792T>C	19.37:g.55525497A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001083899	0	0	0	0	0	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	1686	0.771978021978022	272	0.5528455284552846	309	0.8535911602209945	471	0.8234265734265734	634	0.8364116094986808	a	0	-2.609384	0.00121	0.676625	0.870316	ENSG00000088053	ENST00000310373	T	0.39592	1.07	0.235	-0.47	0.12131	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.47799	-0.9089	6	0.02654	T	1	.	.	.	.	rs1671150;rs17451417;rs52793608;rs1671150	606	Q9HCN6-3	.	L	606	ENSP00000308782:F606L	ENSP00000308782:F606L	F	-	1	0	GP6	60217309	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.849000	0.01672	-1.921000	0.01068	-1.939000	0.00497	TTT	A|0.233;G|0.767		0.478	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			G	55525497	A	G	55525497	1	3	32	0	1	0	0	0	0	0	0	0	6610	72	3	4		4	GP6	19	55525497	3'UTR	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	778908	55525497	3603486	138	8205											
MKKS	8195	bcgsc.ca	37	chr20	10386013	10386013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaggttgctggctgagCccacagcttcatgtggaagg	15	9	2	1	rs1545	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr20:10386013C>A	ENST00000347364.3	-	6	2357	c.1595G>T	c.(1594-1596)gGc>gTc	p.G532V	MKKS_ENST00000399054.2_Missense_Mutation_p.G532V	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	532			G -> V (in dbSNP:rs1545). {ECO:0000269|PubMed:15483080, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}.		artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GCTGGCTGAGCCCACAGCTTC	0.463													C|||	965	0.192692	0.2148	0.1153	5008	,	,		18434	0.256		0.0875	False		,,,				2504	0.2607				p.G532V	Melanoma(79;1979 2212 6640)	.											.	MKKS-90	0			c.G1595T						.	C	VAL/GLY,VAL/GLY	757,3649	309.4+/-291.0	67,623,1513	75	70	72	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1595,1595	-1.6	0	20	dbSNP_36	72	962,7638	211.4+/-252.0	64,834,3402	yes	missense,missense	MKKS	NM_018848.2,NM_170784.1	109,109	131,1457,4915	AA,AC,CC		11.186,17.1811,13.217	benign,benign	532/571,532/571	10386013	1719,11287	2203	4300	6503	SO:0001583	missense	8195	exon6			GCTGAGCCCACAG	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1595G>T	20.37:g.10386013C>A	ENSP00000246062:p.Gly532Val	Somatic	194	0		WXS	Illumina GAIIx	Phase_I	169	8	NM_170784	0	0	22	22	0	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	378	0.17307692307692307	126	0.25609756097560976	48	0.13259668508287292	134	0.23426573426573427	70	0.09234828496042216	C	8.788	0.929785	0.18131	0.171811	0.11186	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.90324	-2.65;-2.65	5.83	-1.62	0.08372	.	1.310880	0.04361	N	0.357467	T	0.00073	0.0002	L	0.57536	1.79	0.51767	P	6.60000000000105E-5	B	0.26120	0.142	B	0.25291	0.059	T	0.22941	-1.0202	9	0.59425	D	0.04	-30.0978	4.7613	0.13110	0.1185:0.1156:0.1189:0.647	rs1545;rs2206657;rs6108551;rs16990979;rs17845867;rs17858842;rs52789776;rs58556060;rs1545	532	Q9NPJ1	MKKS_HUMAN	V	532	ENSP00000246062:G532V;ENSP00000382008:G532V	ENSP00000246062:G532V	G	-	2	0	MKKS	10334013	0.000000	0.05858	0.000000	0.03702	0.478000	0.33099	-0.375000	0.07475	-0.485000	0.06754	0.655000	0.94253	GGC	C|0.839;A|0.161		0.463	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			A	10386013	C	A	10386013	3	1	32	1	0	0	0	0	1	0	0	0	9638	739	26	3	121	3	MKKS	20	10386013	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		10386013	52639507	139	8206											
MKKS	8195	bcgsc.ca	37	chr20	10386059	10386059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggcacaaatggacgacGtgtgcttcttaagaaagacc	11	8	1	2	rs1547	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr20:10386059G>A	ENST00000347364.3	-	6	2311	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	MKKS_ENST00000399054.2_Missense_Mutation_p.R517C	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	517			R -> C (in dbSNP:rs1547). {ECO:0000269|PubMed:10802661, ECO:0000269|PubMed:15483080, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}.		artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.R517C(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AATGGACGACGTGTGCTTCTT	0.488													G|||	977	0.195088	0.2148	0.1153	5008	,	,		17834	0.2679		0.0875	False		,,,				2504	0.2607				p.R517C	Melanoma(79;1979 2212 6640)	.											.	MKKS-90	1	Substitution - Missense(1)	stomach(1)	c.C1549T						.	G	CYS/ARG,CYS/ARG	757,3649	309.7+/-291.2	67,623,1513	106	96	100	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1549,1549	-2.8	0	20	dbSNP_36	100	962,7638	211.4+/-252.0	63,836,3401	yes	missense,missense	MKKS	NM_018848.2,NM_170784.1	180,180	130,1459,4914	AA,AG,GG		11.186,17.1811,13.217	benign,benign	517/571,517/571	10386059	1719,11287	2203	4300	6503	SO:0001583	missense	8195	exon6			GACGACGTGTGCT	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1549C>T	20.37:g.10386059G>A	ENSP00000246062:p.Arg517Cys	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	135	7	NM_170784	0	0	24	24	0	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	380	0.17399267399267399	126	0.25609756097560976	48	0.13259668508287292	136	0.23776223776223776	70	0.09234828496042216	G	5.015	0.188427	0.09547	0.171811	0.11186	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.86230	-2.09;-2.09	5.77	-2.76	0.05896	.	1.530140	0.02937	N	0.139949	T	0.00039	0.0001	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	9	0.38643	T	0.18	-32.588	9.4895	0.38951	0.6582:0.1114:0.2304:0.0	rs1547;rs4532003;rs17852624;rs58230487;rs1547	517	Q9NPJ1	MKKS_HUMAN	C	517	ENSP00000246062:R517C;ENSP00000382008:R517C	ENSP00000246062:R517C	R	-	1	0	MKKS	10334059	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.074000	0.11450	-0.415000	0.07484	-0.150000	0.13652	CGT	G|0.836;A|0.164		0.488	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			A	10386059	G	A	10386059	3	1	32	1	0	0	0	0	1	0	0	0	9638	1145	40	1	167	1	MKKS	20	10386059	Missense_Mutation	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	46	10386059	52639461	140	8207											
SSTR4	6754	bcgsc.ca	37	chr20	23016970	23016970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagctgctgaacctcTtcgtgaccagccttgatgcc	11	13	1	3	rs3746726	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr20:23016970T>G	ENST00000255008.3	+	1	914	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	284			F -> V (in dbSNP:rs3746726). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8483934, ECO:0000269|PubMed:8512564, ECO:0000269|Ref.5}.		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)					GCTGAACCTCTTCGTGACCAG	0.557													T|||	1530	0.305511	0.2179	0.281	5008	,	,		18337	0.2351		0.3698	False		,,,				2504	0.4479				p.F284V	Esophageal Squamous(15;850 1104 16640)	.											.	SSTR4-522	0			c.T850G						.	T	VAL/PHE	1031,3375	359.9+/-315.0	134,763,1306	197	205	202		850	3.4	0.5	20	dbSNP_107	202	3321,5279	483.4+/-371.1	672,1977,1651	yes	missense	SSTR4	NM_001052.2	50	806,2740,2957	GG,GT,TT		38.6163,23.3999,33.4615	benign	284/389	23016970	4352,8654	2203	4300	6503	SO:0001583	missense	6754	exon1			AACCTCTTCGTGA		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.850T>G	20.37:g.23016970T>G	ENSP00000255008:p.Phe284Val	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	133	6	NM_001052	0	0	0	0	0	Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	648	0.2967032967032967	113	0.22967479674796748	112	0.30939226519337015	148	0.25874125874125875	275	0.3627968337730871	T	7.979	0.750733	0.15778	0.233999	0.386163	ENSG00000132671	ENST00000255008	T	0.39406	1.08	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.090253	0.44483	U	0.000451	T	0.00012	0.0000	L	0.47190	1.495	0.37728	P	0.07484000000000002	B	0.11235	0.004	B	0.17098	0.017	T	0.38373	-0.9664	9	0.02654	T	1	.	6.6396	0.22901	0.0:0.1196:0.0:0.8804	rs3746726;rs60613961;rs3746726	284	P31391	SSR4_HUMAN	V	284	ENSP00000255008:F284V	ENSP00000255008:F284V	F	+	1	0	SSTR4	22964970	0.846000	0.29590	0.479000	0.27329	0.626000	0.37791	1.296000	0.33389	1.384000	0.46424	0.533000	0.62120	TTC	T|0.674;G|0.326		0.557	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			G	23016970	T	G	23016970	3	3	32	1	0	0	0	0	1	0	0	0	15247	1609	56	5	852	5	SSTR4	20	23016970	Missense_Mutation	SNP	T	TCGA-OR-A5KO-01A-11D-A29I-10	12630911	23016970	40008550	141	8208											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	32	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	14360169	37377139	25648381	142	8209											
SLC9A8	23315	hgsc.bcm.edu	37	chr20	48429485	48429485	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagatggcggaagaggAgtgagtgggctttttcccgg	19	5	0	4	rs61734269	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr20:48429485A>C	ENST00000361573.2	+	1	68	c.26A>C	c.(25-27)gAg>gCg	p.E9A	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000417961.1_Splice_Site_p.E9A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	9					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GCGGAAGAGGAGTGAGTGGGC	0.721													A|||	20	0.00399361	0	0.0072	5008	,	,		9939	0		0.0149	False		,,,				2504	0				p.E9A		.											.	SLC9A8-91	0			c.A26C						.	A	ALA/GLU	8,3162		0,8,1577	22	27	25		26	5.8	1	20	dbSNP_129	25	93,5627		0,93,2767	yes	missense-near-splice	SLC9A8	NM_015266.1	107	0,101,4344	CC,CA,AA		1.6259,0.2524,1.1361	benign	9/582	48429485	101,8789	1585	2860	4445	SO:0001630	splice_region_variant	23315	exon1			AAGAGGAGTGAGT	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.26+1A>C	20.37:g.48429485A>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001260491	0	0	0	0	0	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	13	0.005952380952380952	0	0.0	4	0.011049723756906077	0	0.0	9	0.011873350923482849	A	18.74	3.689428	0.68271	0.002524	0.016259	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.64085	-0.08;-0.08	5.78	5.78	0.91487	.	1.022470	0.07730	N	0.945052	T	0.26195	0.0639	N	0.03608	-0.345	0.80722	D	1	B;B	0.16396	0.017;0.0	B;B	0.18561	0.022;0.0	T	0.05920	-1.0856	10	0.21540	T	0.41	.	12.5619	0.56286	1.0:0.0:0.0:0.0	rs61734269	9;9	Q9Y2E8-2;Q9Y2E8	.;SL9A8_HUMAN	A	9	ENSP00000416418:E9A;ENSP00000354966:E9A	ENSP00000354966:E9A	E	+	2	0	SLC9A8	47862892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.988000	0.49386	2.224000	0.72417	0.449000	0.29647	GAG	A|0.994;C|0.006		0.721	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	Missense_Mutation	C	48429485	A	C	48429485	5	2	32	1	0	0	0	0	0	0	1	0	14765	318	11	5	28	5	SLC9A8	20	48429485	Splice_Site	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	11052346	48429485	14596035	143	8210											
CECR2	27443	bcgsc.ca	37	chr22	18003341	18003341	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaggtgcatgtctgtcGaccagccgtcctgtagccag	14	11	1	1	rs73159550	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr22:18003341G>A	ENST00000262608.8	+	8	1029	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	CECR2_ENST00000342247.5_Silent_p.S314S|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000400585.2_Intron	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	384					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)				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)		CATGTCTGTCGACCAGCCGTC	0.463													G|||	134	0.0267572	0.0756	0.0173	5008	,	,		16668	0		0.0199	False		,,,				2504	0.002				.		.											.	CECR2-70	0			.						.	G		279,4035		9,261,1887	56	66	63		1026	0.4	0	22	dbSNP_130	63	189,8311		2,185,4063	yes	coding-synonymous	CECR2	NM_031413.3		11,446,5950	AA,AG,GG		2.2235,6.4673,3.6523		342/1443	18003341	468,12346	2157	4250	6407	SO:0001819	synonymous_variant	27443	.			TCTGTCGACCAGC	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	ENST00000262608.8:c.1029G>A	22.37:g.18003341G>A		Somatic	238	0		WXS	Illumina GAIIx	Phase_I	284	8	.	0	0	0	0	0	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000262608.8	37																																																																																				G|0.974;A|0.026		0.463	CECR2-201	KNOWN	basic	protein_coding	protein_coding		NM_031413		A	18003341	G	A	18003341	2	1	32	1	0	0	0	0	0	0	0	1	3213	1045	37	1		1	CECR2	22	18003341	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10		18003341	33301225	144	8211											
ZDHHC8	29801	hgsc.bcm.edu	37	chr22	20131121	20131121	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcagcaacgccccGgggccccggcccagcagtgg	15	18	0	0	rs145100111	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr22:20131121G>C	ENST00000334554.7	+	10	2109	c.1968G>C	c.(1966-1968)ccG>ccC	p.P656P	ZDHHC8_ENST00000320602.7_Silent_p.P564P|ZDHHC8_ENST00000405930.3_Silent_p.P656P	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	656					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCAACGCCCCGGGGCCCCGGC	0.716													G|||	15	0.00299521	8e-04	0.0043	5008	,	,		14170	0		0.0089	False		,,,				2504	0.002				p.P656P		.											.	ZDHHC8-91	0			c.G1968C						.	G	,	13,4351		0,13,2169	15	17	16		1968,1968	-7.4	0.4	22	dbSNP_134	16	93,8485		0,93,4196	no	coding-synonymous,coding-synonymous	ZDHHC8	NM_001185024.1,NM_013373.3	,	0,106,6365	CC,CG,GG		1.0842,0.2979,0.819	,	656/779,656/766	20131121	106,12836	2182	4289	6471	SO:0001819	synonymous_variant	29801	exon10			CGCCCCGGGGCCC	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1968G>C	22.37:g.20131121G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_001185024	0	0	0	0	0	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	CCDS13776.1																																																																																			G|0.993;C|0.007		0.716	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		C	20131121	G	C	20131121	2	2	32	1	0	0	0	0	0	0	0	1	17669	1103	39	2		2	ZDHHC8	22	20131121	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	2127780	20131121	31173445	145	8212											
AIFM3	150209	bcgsc.ca	37	chr22	21327589	21327589	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaaggcgctgccttgCccacagtggagctcaagatc	13	13	2	1	rs178264	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr22:21327589C>T	ENST00000399167.2	+	3	271				AIFM3_ENST00000399163.2_Intron|AIFM3_ENST00000405089.1_Missense_Mutation_p.P15S|AIFM3_ENST00000440238.2_Intron|AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000333607.6_Intron	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3						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)			CGCTGCCTTGCCCACAGTGGA	0.682													C|||	1092	0.218051	0.1551	0.2233	5008	,	,		14411	0.4306		0.1113	False		,,,				2504	0.1902				p.P15S		.											.	AIFM3-280	0			c.C43T						.	C	,SER/PRO,	644,3726		52,540,1593	16	15	15		,43,	-0.5	0	22	dbSNP_79	15	1036,7524		77,882,3321	yes	intron,missense,intron	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	,74,	129,1422,4914	TT,TC,CC		12.1028,14.7368,12.993	,,	,15/605,	21327589	1680,11250	2185	4280	6465	SO:0001627	intron_variant	150209	exon3			GCCTTGCCCACAG	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.32-7C>T	22.37:g.21327589C>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_001146288	0	0	0	0	0	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	526	0.24084249084249085	74	0.15040650406504066	72	0.19889502762430938	276	0.4825174825174825	104	0.13720316622691292	C	8.495	0.862825	0.17178	0.147368	0.121028	ENSG00000183773	ENST00000405089	T	0.44083	0.93	4.91	-0.471	0.12119	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.48328	-0.9045	7	0.25751	T	0.34	.	4.8039	0.13310	0.0:0.4401:0.1597:0.4002	rs178264;rs886154	15	Q96NN9-2	.	S	15	ENSP00000385800:P15S	ENSP00000385800:P15S	P	+	1	0	AIFM3	19657589	0.006000	0.16342	0.001000	0.08648	0.007000	0.05969	0.175000	0.16762	0.089000	0.17243	0.655000	0.94253	CCC	C|0.759;T|0.241		0.682	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21327589	C	T	21327589	1	4	32	0	1	0	0	0	0	0	0	0	428	739	26	3		3	AIFM3	22	21327589	Intron	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	1196468	21327589	29976977	146	8213											
SHANK3	85358	hgsc.bcm.edu	37	chr22	51159595	51159595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacccctggcccttgccCtggctgcccgagagcgagct	12	18	1	1	rs376858991	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chr22:51159595C>T	ENST00000414786.2	+	21	3519	c.3292C>T	c.(3292-3294)Ctg>Ttg	p.L1098L	SHANK3_ENST00000262795.3_Silent_p.L1128L|SHANK3_ENST00000445220.2_Silent_p.L1114L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1112					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGCCCTTGCCCTGGCTGCCCG	0.726													C|||	17	0.00339457	0	0	5008	,	,		9780	0		0.001	False		,,,				2504	0.0164				p.L1098L		.											.	SHANK3-69	0			c.C3292T						.	C		0,4002		0,0,2001	8	10	10		3382	3.3	0.8	22		10	14,8218		0,14,4102	no	coding-synonymous	SHANK3	NM_001080420.1		0,14,6103	TT,TC,CC		0.1701,0.0,0.1144		1128/1748	51159595	14,12220	2001	4116	6117	SO:0001819	synonymous_variant	85358	exon21			CTTGCCCTGGCTG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3292C>T	22.37:g.51159595C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_033517	0	0	2	7	5	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																				.		0.726	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51159595	C	T	51159595	2	4	32	1	0	0	0	0	0	0	0	1	14311	680	24	3		3	SHANK3	22	51159595	Silent	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	29832006	51159595	144971	147	8214											
ARSE	415	bcgsc.ca	37	chrX	2856155	2856155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcctggggcacctcgcCgcccgccagccggaccacgg	13	20	0	0	rs35143646	byFrequency	TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chrX:2856155C>T	ENST00000381134.3	-	9	1336	c.1270G>A	c.(1270-1272)Ggc>Agc	p.G424S	ARSE_ENST00000540563.1_Missense_Mutation_p.G379S|ARSE_ENST00000545496.1_Missense_Mutation_p.G449S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	424			G -> S (in dbSNP:rs35143646). {ECO:0000269|Ref.2}.		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)				GGCACCTCGCCGCCCGCCAGC	0.602													C|||	2169	0.57457	0.059	0.415	3775	,	,		11186	0.6786		0.5278	False		,,,				2504	0.6012				p.G424S		.											.	ARSE-131	0			c.G1270A						.	C	SER/GLY	687,3144		65,474,83,1093,484	52	55	54		1270	3.5	0	X	dbSNP_126	54	4504,2211		1084,1066,1270,277,591	no	missense	ARSE	NM_000047.2	56	1149,1540,1353,1370,1075	TT,TC,T,CC,C		32.9263,17.9327,49.2225	benign	424/590	2856155	5191,5355	2199	4288	6487	SO:0001583	missense	415	exon9			CCTCGCCGCCCGC	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.1270G>A	X.37:g.2856155C>T	ENSP00000370526:p.Gly424Ser	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	404	10	NM_000047	0	0	0	0	0	Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	CCDS14122.1	951	0.5732368896925859	22	0.046413502109704644	94	0.3671875	255	0.796875	275	0.5308880308880309	c	10.51	1.369388	0.24771	0.179327	0.670737	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93859	-3.3;-3.3;-3.3	3.46	3.46	0.39613	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.055865	0.64402	D	0.000001	T	0.00012	0.0000	L	0.56769	1.78	0.22424	P	0.999114817	P;P;P	0.50819	0.931;0.939;0.905	P;B;P	0.46299	0.511;0.41;0.49	T	0.48502	-0.9030	9	0.20519	T	0.43	.	14.3929	0.66991	0.0:1.0:0.0:0.0	rs35143646;rs60405351	379;449;424	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	379;449;424	ENSP00000438198:G379S;ENSP00000441417:G449S;ENSP00000370526:G424S	ENSP00000370526:G424S	G	-	1	0	ARSE	2866155	1.000000	0.71417	0.017000	0.16124	0.005000	0.04900	6.335000	0.72949	1.355000	0.45865	0.540000	0.68198	GGC	C|0.503;T|0.497		0.602	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2856155	C	T	2856155	3	4	32	1	0	0	0	0	1	0	0	0	991	652	23	1	511	1	ARSE	23	2856155	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10		2856155	152414405	148	8215											
SMC1A	8243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53430781	53430781	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttgatatcattaatGcgaggcccaaagttggctag	9	9	2	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chrX:53430781G>C	ENST00000322213.4	-	14	2368	c.2241C>G	c.(2239-2241)cgC>cgG	p.R747R		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	747					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TATCATTAATGCGAGGCCCAA	0.493																																					p.R747R		.											.	SMC1A-232	0			c.C2241G						.						138	114	122					X																	53430781		2203	4300	6503	SO:0001819	synonymous_variant	8243	exon14			ATTAATGCGAGGC	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2241C>G	X.37:g.53430781G>C		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	150	62	NM_006306	1	0	19	45	25	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																			.		0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		C	53430781	G	C	53430781	2	2	32	1	0	0	0	0	0	0	0	1	14826	1306	46	3		3	SMC1A	23	53430781	Silent	SNP	G	TCGA-OR-A5KO-01A-11D-A29I-10	50574626	53430781	101839779	149	8216											
BEX2	84707	ucsc.edu;bcgsc.ca	37	chrX	102564587	102564587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgactgcccgcaaactAtgactcaactgcttttccct	7	14	1	2			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chrX:102564587A>G	ENST00000372677.3	-	3	585	c.318T>C	c.(316-318)caT>caC	p.H106H	BEX2_ENST00000372674.1_Silent_p.H106H|BEX2_ENST00000536889.1_Silent_p.H138H	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	106					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						CCCGCAAACTATGACTCAACT	0.498																																					p.H138H		.											.	BEX2-109	0			c.T414C						.						239	194	210					X																	102564587		2203	4298	6501	SO:0001819	synonymous_variant	84707	exon3			CAAACTATGACTC	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.318T>C	X.37:g.102564587A>G		Somatic	264	3		WXS	Illumina GAIIx	Phase_I	552	256	NM_001168399	0	0	0	0	0	B2R574|D3DXA2|F5H7H5|Q5JVV9	Silent	SNP	ENST00000372677.3	37	CCDS14505.1																																																																																			.		0.498	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		G	102564587	A	G	102564587	2	3	32	1	0	0	0	0	0	0	0	1	1413	446	16	4		4	BEX2	23	102564587	Silent	SNP	A	TCGA-OR-A5KO-01A-11D-A29I-10	49133806	102564587	52705973	150	8217											
CT47B1	643311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	120009056	120009056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggttgggcacagcagCgtggggccccaccatcaggc	15	14	1	1			TCGA-OR-A5KO-01A-11D-A29I-10	TCGA-OR-A5KO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	efc0de29-4b55-469d-90c4-1f45dd50639f	e0418b18-0033-4ac2-abc0-bc7c73abab6f	g.chrX:120009056C>T	ENST00000371311.3	-	1	723	c.469G>A	c.(469-471)Gct>Act	p.A157T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	157										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGCACAGCAGCGTGGGGCCCC	0.657																																					p.A157T		.											.	.	0			c.G469A						.						94	86	88					X																	120009056		692	1590	2282	SO:0001583	missense	643311	exon1			CAGCAGCGTGGGG		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.469G>A	X.37:g.120009056C>T	ENSP00000360360:p.Ala157Thr	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	622	255	NM_001145718	0	0	0	0	0	A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905219	0.17760	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.42	-2.78	0.05859	.	.	.	.	.	T	0.29620	0.0739	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.14980	-1.0453	8	0.14252	T	0.57	.	2.9167	0.05755	0.3746:0.2521:0.3733:0.0	.	157	P0C2W7	CT47B_HUMAN	T	157	.	ENSP00000360360:A157T	A	-	1	0	CT47B1	119893084	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.279000	0.02807	-0.992000	0.03472	0.171000	0.16805	GCT	.		0.657	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		T	120009056	C	T	120009056	3	4	32	1	0	0	0	0	1	0	0	0	3998	768	27	1	438	1	CT47B1	23	120009056	Missense_Mutation	SNP	C	TCGA-OR-A5KO-01A-11D-A29I-10	17444469	120009056	35261504	151	8218											
HES3	390992	hgsc.bcm.edu	37	chr1	6305292	6305292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcgctgccccctggtgCccgagagcgccgccggcagc	15	19	0	1	rs61760836	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:6305292C>A	ENST00000377898.3	+	4	351	c.286C>A	c.(286-288)Ccc>Acc	p.P96T		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	96	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCCCCTGGTGCCCGAGAGCGC	0.751													C|||	2794	0.557907	0.3079	0.755	5008	,	,		7447	0.5615		0.6849	False		,,,				2504	0.6217				p.P96T		.											.	HES3-514	0			c.C286A						.	C	THR/PRO	1430,1518		391,648,435	2	3	2		286	2.4	0.2	1	dbSNP_129	2	4911,1731		1926,1059,336	no	missense	HES3	NM_001024598.3	38	2317,1707,771	AA,AC,CC		26.0614,48.5075,33.879	benign	96/187	6305292	6341,3249	1474	3321	4795	SO:0001583	missense	390992	exon4			CTGGTGCCCGAGA		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.286C>A	1.37:g.6305292C>A	ENSP00000367130:p.Pro96Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001024598	0	0	0	0	0	Q5TGS0	Missense_Mutation	SNP	ENST00000377898.3	37	CCDS41238.1	1241	0.5682234432234432	158	0.32113821138211385	254	0.7016574585635359	313	0.5472027972027972	516	0.6807387862796834	C	2.270	-0.367136	0.05069	0.485075	0.739386	ENSG00000173673	ENST00000377898	T	0.29397	1.57	3.31	2.4	0.29515	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.22003	0.063	B	0.17098	0.017	T	0.30765	-0.9967	8	0.11794	T	0.64	-26.1056	6.4315	0.21798	0.0:0.8639:0.0:0.1361	rs61760836	96	Q5TGS1	HES3_HUMAN	T	96	ENSP00000367130:P96T	ENSP00000367130:P96T	P	+	1	0	HES3	6227879	0.724000	0.28038	0.207000	0.23584	0.040000	0.13550	1.220000	0.32491	0.982000	0.38575	0.289000	0.19496	CCC	C|0.430;A|0.570		0.751	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305292	C	A	6305292	3	1	33	1	0	0	0	0	1	0	0	0	7094	739	26	3	296	3	HES3	1	6305292	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		6305292	242945329	1	8219			1	38		2	2	12	C		5.436479e-05
HES3	390992	hgsc.bcm.edu	37	chr1	6305303	6305303	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggtgcccgagagcgcCgccggcagcaccatggacag	14	17	0	1	rs61760837	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:6305303C>A	ENST00000377898.3	+	4	362	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	99	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCGAGAGCGCCGCCGGCAGCA	0.771													C|||	2792	0.557508	0.3079	0.7536	5008	,	,		7640	0.5615		0.6839	False		,,,				2504	0.6217				p.A99A		.											.	HES3-514	0			c.C297A						.	C		1446,1378		419,608,385	2	3	2		297	0.2	0	1	dbSNP_129	2	4876,1552		1960,956,298	no	coding-synonymous	HES3	NM_001024598.3		2379,1564,683	AA,AC,CC		24.1444,48.796,31.6688		99/187	6305303	6322,2930	1412	3214	4626	SO:0001819	synonymous_variant	390992	exon4			GAGCGCCGCCGGC		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.297C>A	1.37:g.6305303C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001024598	0	0	0	0	0	Q5TGS0	Silent	SNP	ENST00000377898.3	37	CCDS41238.1																																																																																			C|0.438;A|0.562		0.771	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305303	C	A	6305303	2	1	33	1	0	0	0	0	0	0	0	1	7094	639	23	2		2	HES3	1	6305303	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	11	6305303	242945318	2	8220			1	38		2	2	12	C		5.436479e-05
FBXO42	54455	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	16580181	16580181	+	Frame_Shift_Del	DEL	G	G	-													gggccagagatgttcggcttGgaccacgcccactgctcaag					rs368997762		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:16580181delG	ENST00000375592.3	-	7	1029	c.813delC	c.(811-813)tccfs	p.S271fs		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	271										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)		TGTTCGGCTTGGACCACGCCC	0.493																																					p.S271fs		.											.	FBXO42-228	0			c.813delC						.						71	62	65					1																	16580181		2203	4300	6503	SO:0001589	frameshift_variant	54455	exon7			CGGCTTGGACCAC	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.813delC	1.37:g.16580181delG	ENSP00000364742:p.Ser271fs	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	80	21	NM_018994	0	0	0	0	0	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Frame_Shift_Del	DEL	ENST00000375592.3	37	CCDS30613.1																																																																																			.		0.493	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			-	16580181	G	-	16580181	7	5	33	1	0	1	0	1	0	0	0	0	5773	1335	47	0	1356	0	FBXO42	1	16580181	Frame_Shift_Del	DEL	G	TCGA-OR-A5KP-01A-11D-A30A-10	10274878	16580181	232670440	3	8221											
BRDT	676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	92446707	92446707	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatatgtttcggcatgTctaagaaagagaccattaaa	8	5	1	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:92446707T>A	ENST00000362005.3	+	11	2140	c.1722T>A	c.(1720-1722)tgT>tgA	p.C574*	BRDT_ENST00000370389.2_Nonsense_Mutation_p.C501*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.C528*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.C574*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.C574*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	574	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				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)		TTTCGGCATGTCTAAGAAAGA	0.343																																					p.C578X		.											.	BRDT-374	0			c.T1734A						.						72	76	75					1																	92446707		2202	4300	6502	SO:0001587	stop_gained	676	exon10			GGCATGTCTAAGA	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.1722T>A	1.37:g.92446707T>A	ENSP00000354568:p.Cys574*	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	57	15	NM_001242806	0	0	0	0	0	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	41	9.095178	0.99064	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	.	.	.	5.67	1.78	0.24846	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5425	8.5219	0.33282	0.0:0.3295:0.0:0.6705	.	.	.	.	X	574;501;574;528;574	.	ENSP00000354568:C574X	C	+	3	2	BRDT	92219295	0.908000	0.30866	0.925000	0.36789	0.049000	0.14656	0.047000	0.14056	0.096000	0.17463	0.477000	0.44152	TGT	.		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92446707	T	A	92446707	4	1	33	1	0	0	0	0	0	1	0	0	1512	1673	58	5	1756	5	BRDT	1	92446707	Nonsense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	75866526	92446707	156803914	4	8222											
SLC35A3	23443	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	100483292	100483292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatgcagataatattttaAaaggatttgcaacctcttta	6	5	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:100483292A>G	ENST00000370155.3	+	7	1200	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K270E|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K312E|SLC35A3_ENST00000465289.1_Intron	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	270					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TAATATTTTAAAAGGATTTGC	0.299																																					p.K312E	Ovarian(7;298 356 944 2149 6911)	.											.	SLC35A3-90	0			c.A934G						.						52	53	53					1																	100483292		2202	4286	6488	SO:0001583	missense	23443	exon7			ATTTTAAAAGGAT	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.808A>G	1.37:g.100483292A>G	ENSP00000359174:p.Lys270Glu	Somatic	143	1		WXS	Illumina GAIIx	Phase_I	127	36	NM_001271685	0	0	0	0	0	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	CCDS762.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809663	0.90707	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153	T;T;T	0.55413	0.52;0.52;0.52	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.88020	0.2768	10	0.87932	D	0	-15.6987	15.5683	0.76313	1.0:0.0:0.0:0.0	.	311;270	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	E	270;270;312	ENSP00000359174:K270E;ENSP00000414947:K270E;ENSP00000359172:K312E	ENSP00000359172:K312E	K	+	1	0	SLC35A3	100255880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.285000	0.95894	2.143000	0.66587	0.533000	0.62120	AAA	.		0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		G	100483292	A	G	100483292	3	3	33	1	0	0	0	0	1	0	0	0	14617	15	1	4	830	4	SLC35A3	1	100483292	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	8036585	100483292	148767329	5	8223											
PRPF38B	55119	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	109235422	109235425	+	Frame_Shift_Del	DEL	CTTA	CTTA	-													gaccaacatcctgtcgtcgcCttacttcaaagtacagctct							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	CTTA	CTTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:109235422_109235425delCTTA	ENST00000370025.4	+	1	478_481	c.209_212delCTTA	c.(208-213)ccttacfs	p.PY70fs	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Frame_Shift_Del_p.PY70fs|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	70					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)		CTGTCGTCGCCTTACTTCAAAGTA	0.554																																					p.70_71del		.											.	PRPF38B-90	0			c.209_212del						.																																			SO:0001589	frameshift_variant	55119	exon1			CGTCGCCTTACTT	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.209_212delCTTA	1.37:g.109235422_109235425delCTTA	ENSP00000359042:p.Pro70fs	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	379	130	NM_018061	0	0	0	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Del	DEL	ENST00000370025.4	37	CCDS788.1																																																																																			.		0.554	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		-	109235425	CTTA	-	109235422	7	5	33	1	0	1	0	1	0	0	0	0	12610	681	24	0	211	0	PRPF38B	1	109235422	Frame_Shift_Del	DEL	CTTA	TCGA-OR-A5KP-01A-11D-A30A-10	8752130	109235422	140015199	6	8224											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	32	16	NM_018364	0	0	0	0	0	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	33	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	5119232	114354654	134895967	7	8225											
CA14	23632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150232559	150232559	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcaggtcaacactggacGtatgagggtgagcagatctc	13	9	2	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:150232559G>T	ENST00000369111.4	+	2	1039	c.69G>T	c.(67-69)acG>acT	p.T23T	RP4-790G17.7_ENST00000607002.1_RNA|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	23					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AACACTGGACGTATGAGGGTG	0.592																																					p.T23T		.											.	CA14-91	0			c.G69T						.						127	111	117					1																	150232559		2203	4300	6503	SO:0001819	synonymous_variant	23632	exon2			CTGGACGTATGAG	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.69G>T	1.37:g.150232559G>T		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	220	39	NM_012113	0	0	0	0	0	Q5TB24|Q8NCF4	Silent	SNP	ENST00000369111.4	37	CCDS947.1																																																																																			.		0.592	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		T	150232559	G	T	150232559	2	4	33	1	0	0	0	0	0	0	0	1	2522	1132	40	2		2	CA14	1	150232559	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	35877905	150232559	99018062	8	8226											
SCAMP3	10067	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	155227427	155227429	+	In_Frame_Del	DEL	AGG	AGG	-													ccaggcaggcgaggaagttcAggagaagagccagcgtgctg					rs375600980		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	AGG	AGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:155227427_155227429delAGG	ENST00000302631.3	-	6	644_646	c.537_539delCCT	c.(535-540)ctcctg>ctg	p.179_180LL>L	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000368368.3_5'Flank|SCAMP3_ENST00000355379.3_In_Frame_Del_p.153_154LL>L	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	179					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGAAGTTCAGGAGAAGAGCCA	0.552																																					p.179_180del		.											.	SCAMP3-93	0			c.537_539del						.																																			SO:0001651	inframe_deletion	10067	exon6			AAGTTCAGGAGAA	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.537_539delCCT	1.37:g.155227427_155227429delAGG	ENSP00000307275:p.Leu180del	Somatic	241	0		WXS	Illumina GAIIx	Phase_I	224	34	NM_005698	0	0	0	0	0	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	In_Frame_Del	DEL	ENST00000302631.3	37	CCDS1105.1																																																																																			.		0.552	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		-	155227429	AGG	-	155227427	7	5	33	1	0	1	0	1	0	0	0	0	13917	188	7	0	520	0	SCAMP3	1	155227427	In_Frame_Del	DEL	AGG	TCGA-OR-A5KP-01A-11D-A30A-10	4994868	155227427	94023194	9	8227											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	26	26	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	33	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	45653551	200880978	48369643	10	8228											
TNNT2	7139	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	201338962	201338962	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accgtcttcgtcctctctccAgtcctcctcttctgaggttc	6	17	4	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:201338962A>T	ENST00000367320.2	-	5	131	c.79T>A	c.(79-81)Tgg>Agg	p.W27R	TNNT2_ENST00000367315.2_Intron|TNNT2_ENST00000458432.2_Missense_Mutation_p.W29R|TNNT2_ENST00000367318.5_Intron|TNNT2_ENST00000360372.4_Intron|TNNT2_ENST00000509001.1_Intron|TNNT2_ENST00000421663.2_Intron|TNNT2_ENST00000236918.7_Missense_Mutation_p.W22R|TNNT2_ENST00000367317.4_Intron|TNNT2_ENST00000367322.1_Intron	NM_001276346.1	NP_001263275.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	0					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCTCTCCAGTCCTCCTCT	0.617																																					p.W27R		.											.	TNNT2-90	0			c.T79A						.						138	116	124					1																	201338962		2203	4300	6503	SO:0001583	missense	7139	exon5			CTCTCCAGTCCTC	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000367320.2:c.79T>A	1.37:g.201338962A>T	ENSP00000356289:p.Trp27Arg	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	170	24	NM_001276345	0	0	0	0	0	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000367320.2	37		.	.	.	.	.	.	.	.	.	.	A	13.63	2.295097	0.40594	.	.	ENSG00000118194	ENST00000458432;ENST00000236918;ENST00000367320;ENST00000455702;ENST00000422165	D;D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31;-5.31	4.49	3.34	0.38264	.	0.869992	0.10083	N	0.718194	D	0.96213	0.8765	N	0.08118	0	0.80722	D	1	P;P	0.48016	0.904;0.815	P;B	0.45794	0.493;0.248	D	0.92396	0.5925	10	0.56958	D	0.05	-17.1807	9.2311	0.37437	0.8171:0.1829:0.0:0.0	.	27;27	P45379-3;P45379-10	.;.	R	29;22;27;27;22	ENSP00000387874:W29R;ENSP00000236918:W22R;ENSP00000356289:W27R;ENSP00000402238:W27R;ENSP00000395163:W22R	ENSP00000236918:W22R	W	-	1	0	TNNT2	199605585	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.144000	0.50616	0.725000	0.32318	0.459000	0.35465	TGG	.		0.617	TNNT2-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000086923.2	NM_000364		T	201338962	A	T	201338962	3	4	33	1	0	0	0	0	1	0	0	0	16378	188	7	5	886	5	TNNT2	1	201338962	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	457984	201338962	47911659	11	8229											
EPHX1	2052	broad.mit.edu;bcgsc.ca	37	chr1	226032262	226032264	+	In_Frame_Del	DEL	CTC	CTC	-													tggacaacaggcaccatcatCtcctcccagcgcttctacaa							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:226032262_226032264delCTC	ENST00000366837.4	+	8	1300_1302	c.1104_1106delCTC	c.(1102-1107)atctcc>atc	p.S370del	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_In_Frame_Del_p.S370del	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	370					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCACCATCATCTCCTCCCAGCGC	0.596																																					p.368_369del		.											.	EPHX1-281	0			c.1104_1106del						.																																			SO:0001651	inframe_deletion	2052	exon8			CATCATCTCCTCC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1104_1106delCTC	1.37:g.226032265_226032267delCTC	ENSP00000355802:p.Ser370del	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	121	15	NM_001136018	0	0	0	0	0	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	In_Frame_Del	DEL	ENST00000366837.4	37	CCDS1547.1																																																																																			.		0.596	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		-	226032264	CTC	-	226032262	7	5	33	1	0	1	0	1	0	0	0	0	5195	903	32	0	1130	0	EPHX1	1	226032262	In_Frame_Del	DEL	CTC	TCGA-OR-A5KP-01A-11D-A30A-10	24693300	226032262	23218359	12	8230											
IRF2BP2	359948	hgsc.bcm.edu	37	chr1	234744413	234744413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctcggcggccccggcCgcggtggacaggctgtcggc	17	16	1	0	rs4636	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:234744413C>A	ENST00000366609.3	-	1	858	c.828G>T	c.(826-828)gcG>gcT	p.A276A	IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.A276A	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGGCCCCGGCCGCGGTGGACA	0.741													C|||	1306	0.260783	0.1619	0.2896	5008	,	,		9433	0.2083		0.4185	False		,,,				2504	0.2658				p.A276A		.											.	IRF2BP2-90	0			c.G828T						.	C	,	599,3223		57,485,1369	4	5	4		828,828	3.5	0.9	1	dbSNP_52	4	2729,5241		513,1703,1769	no	coding-synonymous,coding-synonymous	IRF2BP2	NM_001077397.1,NM_182972.2	,	570,2188,3138	AA,AC,CC		34.2409,15.6724,28.2225	,	276/572,276/588	234744413	3328,8464	1911	3985	5896	SO:0001819	synonymous_variant	359948	exon1			CCCGGCCGCGGTG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.828G>T	1.37:g.234744413C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_182972	0	0	0	0	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																			C|0.714;A|0.286		0.741	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234744413	C	A	234744413	2	1	33	1	0	0	0	0	0	0	0	1	7857	639	23	2		2	IRF2BP2	1	234744413	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	8712151	234744413	14506208	13	8231											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	237580422	237580422	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactagagacgctaagagttGcgtaagtagaacttctaaac	10	7	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr1:237580422G>A	ENST00000366574.2	+	11	1164	c.847G>A	c.(847-849)Gcg>Acg	p.A283T	RYR2_ENST00000542537.1_Splice_Site_p.A267T|RYR2_ENST00000360064.6_Splice_Site_p.A281T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	283					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)			GCTAAGAGTTGCGTAAGTAGA	0.448																																					p.A283T		.											.	RYR2-158	0			c.G847A						.						114	112	112					1																	237580422		2056	4222	6278	SO:0001630	splice_region_variant	6262	exon11			AGAGTTGCGTAAG	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.848+1G>A	1.37:g.237580422G>A		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	178	20	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395773	0.62177	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87412	-2.25;-2.25;-2.25	5.98	5.98	0.97165	MIR (2);	0.090634	0.44097	D	0.000498	T	0.75700	0.3885	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.14023	0.01	T	0.70557	-0.4839	10	0.42905	T	0.14	.	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	283	Q92736	RYR2_HUMAN	T	283;281;267	ENSP00000355533:A283T;ENSP00000353174:A281T;ENSP00000443798:A267T	ENSP00000353174:A281T	A	+	1	0	RYR2	235647045	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.776000	0.55356	2.835000	0.97688	0.650000	0.86243	GCG	.		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	A	237580422	G	A	237580422	5	1	33	1	0	0	0	0	0	0	1	0	13814	1333	46	3	889	3	RYR2	1	237580422	Splice_Site	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	2836009	237580422	11670199	14	8232											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	33	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		1481231	241718142	15	8233											
XDH	7498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	31628802	31628802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtaggccaaaagggttGtctctggatctgcatttttc	11	8	3	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:31628802G>A	ENST00000379416.3	-	2	119	c.71C>T	c.(70-72)aCa>aTa	p.T24I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	24	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAAAAGGGTTGTCTCTGGATC	0.398																																					p.T24I	Colon(66;682 1445 30109 40147)	.											.	XDH-158	0			c.C71T						.						155	139	144					2																	31628802		2203	4300	6503	SO:0001583	missense	7498	exon2			AGGGTTGTCTCTG	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.71C>T	2.37:g.31628802G>A	ENSP00000368727:p.Thr24Ile	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	96	14	NM_000379	0	0	0	0	0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327550	0.24080	.	.	ENSG00000158125	ENST00000379416	T	0.27557	1.66	5.77	2.99	0.34606	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.286479	0.41097	D	0.000951	T	0.30448	0.0765	M	0.72353	2.195	0.37381	D	0.912031	B	0.21452	0.056	B	0.25987	0.065	T	0.14952	-1.0454	10	0.22109	T	0.4	.	8.8358	0.35111	0.2977:0.0:0.7023:0.0	.	24	P47989	XDH_HUMAN	I	24	ENSP00000368727:T24I	ENSP00000368727:T24I	T	-	2	0	XDH	31482306	0.999000	0.42202	0.949000	0.38748	0.958000	0.62258	1.493000	0.35605	0.790000	0.33803	0.462000	0.41574	ACA	.		0.398	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31628802	G	A	31628802	3	1	33	1	0	0	0	0	1	0	0	0	17475	1377	48	3	4070	3	XDH	2	31628802	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	30147571	31628802	211570571	16	8234											
CRIM1	51232	broad.mit.edu	37	chr2	36706642	36706642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actcatgttctcatttagatCcagtgtatccttttaataat	4	8	2	1	rs570331773	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:36706642C>A	ENST00000280527.2	+	7	1544	c.1177C>A	c.(1177-1179)Cca>Aca	p.P393T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	393					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCATTTAGATCCAGTGTATCC	0.478																																					p.P393T		.											.	CRIM1-118	0			c.C1177A						.						85	75	78					2																	36706642		2203	4300	6503	SO:0001583	missense	51232	exon7			TTAGATCCAGTGT	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1177C>A	2.37:g.36706642C>A	ENSP00000280527:p.Pro393Thr	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	111	15	NM_016441	0	0	0	0	0	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424541	0.62733	.	.	ENSG00000150938	ENST00000280527	T	0.63417	-0.04	5.34	5.34	0.76211	.	0.118028	0.64402	D	0.000020	T	0.57140	0.2033	L	0.59436	1.845	0.58432	D	0.999999	P	0.40431	0.717	B	0.35813	0.211	T	0.56171	-0.8023	10	0.15952	T	0.53	-7.9119	18.4035	0.90525	0.0:1.0:0.0:0.0	.	393	Q9NZV1	CRIM1_HUMAN	T	393	ENSP00000280527:P393T	ENSP00000280527:P393T	P	+	1	0	CRIM1	36560146	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.958000	0.56737	2.664000	0.90586	0.650000	0.86243	CCA	.		0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		A	36706642	C	A	36706642	3	1	33	1	0	0	0	0	1	0	0	0	3880	855	30	3	1203	3	CRIM1	2	36706642	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	5077840	36706642	206492731	17	8235											
CCDC88A	55704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	55566683	55566683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaatccacagtagtccgaaGctcttctacggtttttgtca	8	10	3	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:55566683G>C	ENST00000436346.1	-	13	2276	c.1435C>G	c.(1435-1437)Ctt>Gtt	p.L479V	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L479V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L479V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L479V|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	479					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTAGTCCGAAGCTCTTCTACG	0.378																																					p.L479V		.											.	CCDC88A-94	0			c.C1435G						.						110	106	108					2																	55566683		2203	4300	6503	SO:0001583	missense	55704	exon13			TCCGAAGCTCTTC	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1435C>G	2.37:g.55566683G>C	ENSP00000410608:p.Leu479Val	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	53	13	NM_018084	0	0	0	0	0	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.533618	0.64972	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.14	5.14	0.70334	.	0.000000	0.42548	U	0.000682	T	0.42653	0.1212	M	0.66939	2.045	0.80722	D	1	P;D;D	0.76494	0.581;0.999;0.999	B;D;D	0.87578	0.341;0.998;0.998	T	0.26538	-1.0100	10	0.52906	T	0.07	-6.7725	18.6018	0.91250	0.0:0.0:1.0:0.0	.	479;479;479	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	479	ENSP00000338728:L479V;ENSP00000263630:L479V;ENSP00000410608:L479V;ENSP00000404431:L479V	ENSP00000263630:L479V	L	-	1	0	CCDC88A	55420187	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.444000	0.73452	2.385000	0.81259	0.585000	0.79938	CTT	.		0.378	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		C	55566683	G	C	55566683	3	2	33	1	0	0	0	0	1	0	0	0	2870	971	34	3	4260	3	CCDC88A	2	55566683	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	18860041	55566683	187632690	18	8236											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	33	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	54805509	110372192	132827181	19	8237											
ARHGAP15	55843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	144381828	144381828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgagcagtttgtggAagcgatcagtaagtacctca	10	7	3	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr2:144381828A>G	ENST00000295095.6	+	12	1297	c.1130A>G	c.(1129-1131)gAa>gGa	p.E377G		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	377	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGTTTGTGGAAGCGATCAGT	0.428																																					p.E377G		.											.	ARHGAP15-653	0			c.A1130G						.						78	72	74					2																	144381828		2203	4300	6503	SO:0001583	missense	55843	exon12			TTGTGGAAGCGAT	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1130A>G	2.37:g.144381828A>G	ENSP00000295095:p.Glu377Gly	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	118	13	NM_018460	0	0	0	0	0	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.280673	0.59758	.	.	ENSG00000075884	ENST00000295095	T	0.21191	2.02	6.16	6.16	0.99307	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.108918	0.64402	D	0.000008	T	0.30198	0.0757	M	0.67517	2.055	0.58432	D	0.999995	B	0.21452	0.056	B	0.32149	0.141	T	0.03739	-1.1008	10	0.30078	T	0.28	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	377	Q53QZ3	RHG15_HUMAN	G	377	ENSP00000295095:E377G	ENSP00000295095:E377G	E	+	2	0	ARHGAP15	144098298	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.224000	0.65288	2.367000	0.80283	0.528000	0.53228	GAA	.		0.428	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		G	144381828	A	G	144381828	3	3	33	1	0	0	0	0	1	0	0	0	866	246	9	4	1172	4	ARHGAP15	2	144381828	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	34009636	144381828	98817545	20	8238											
CPNE9	151835	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	9754512	9754512	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagcaatgaggatggcaCgtgagtcactgccatcaggg	15	9	2	2	rs190521882		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr3:9754512C>T	ENST00000383832.3	+	9	735	c.545C>T	c.(544-546)aCg>aTg	p.T182M	CPNE9_ENST00000383831.3_Splice_Site_p.T182M	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	182	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T182M(1)		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)					GAGGATGGCACGTGAGTCACT	0.517													C|||	1	0.000199681	0	0	5008	,	,		20689	0.001		0	False		,,,				2504	0				.		.											.	CPNE9-70	1	Substitution - Missense(1)	endometrium(1)	.						.						81	87	85					3																	9754512		2162	4297	6459	SO:0001630	splice_region_variant	151835	.			ATGGCACGTGAGT		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.545+1C>T	3.37:g.9754512C>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	79	14	.	0	0	0	0	0	A1L430|A6NDX6|A8MSP8	Splice_Site	SNP	ENST00000383832.3	37	CCDS2574.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.1	4.704831	0.88924	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.40225	1.04;1.04	5.15	5.15	0.70609	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056128	0.64402	D	0.000001	T	0.51584	0.1683	L	0.35341	1.055	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.52003	-0.8633	10	0.51188	T	0.08	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	182	Q8IYJ1	CPNE9_HUMAN	M	182	ENSP00000373343:T182M;ENSP00000373342:T182M	ENSP00000373342:T182M	T	+	2	0	CPNE9	9729512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.048000	0.71046	2.417000	0.82017	0.655000	0.94253	ACG	C|0.999;T|0.000		0.517	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	Missense_Mutation	T	9754512	C	T	9754512	5	4	33	1	0	0	0	0	0	0	1	0	3826	550	19	1	575	1	CPNE9	3	9754512	Splice_Site	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		9754512	188267918	21	8239											
PRRT3	285368	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	9991595	9991596	+	Frame_Shift_Del	DEL	TG	TG	-													gacatcagagttcctgtgacTgtcagctctggggttctccg							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr3:9991595_9991596delTG	ENST00000412055.1	-	2	333_334	c.204_205delCA	c.(202-207)gacagtfs	p.DS68fs	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Frame_Shift_Del_p.DS68fs	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	68						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TTCCTGTGACTGTCAGCTCTGG	0.614																																					p.68_69del		.											.	PRRT3-90	0			c.204_205del						.																																			SO:0001589	frameshift_variant	285368	exon2			TGTGACTGTCAGC	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.204_205delCA	3.37:g.9991595_9991596delTG	ENSP00000392511:p.Asp68fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	82	14	NM_207351	0	0	0	0	0	Q49AD0|Q6UXY6|Q8NBC9	Frame_Shift_Del	DEL	ENST00000412055.1	37	CCDS43049.1																																																																																			.		0.614	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		-	9991596	TG	-	9991595	7	5	33	1	0	1	0	1	0	0	0	0	12653	1580	55	0	2752	0	PRRT3	3	9991595	Frame_Shift_Del	DEL	TG	TCGA-OR-A5KP-01A-11D-A30A-10	237083	9991595	188030835	22	8240											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52554031	52554031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtggcccacagacgcCgcctttcgagctctgcctcc	10	17	1	1	rs145377358		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr3:52554031C>T	ENST00000321725.6	+	51	5383	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1769	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, 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)		CCACAGACGCCGCCTTTCGAG	0.627																																					p.A1769A		.											.	STAB1-139	0			c.C5307T						.	C		1,4405	2.1+/-5.4	0,1,2202	52	54	53		5307	-11.3	0	3	dbSNP_134	53	0,8598		0,0,4299	no	coding-synonymous	STAB1	NM_015136.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		1769/2571	52554031	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23166	exon51			AGACGCCGCCTTT	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.5307C>T	3.37:g.52554031C>T		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	149	26	NM_015136	0	0	0	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																			C|1.000;T|0.000		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52554031	C	T	52554031	2	4	33	1	0	0	0	0	0	0	0	1	15284	639	23	1		1	STAB1	3	52554031	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	42562436	52554031	145468399	23	8241											
DNAH12	201625	bcgsc.ca	37	chr3	57494915	57494915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcttcaagcgatttaactGgtggtttcacaagaacgctc	8	10	3	1	rs115576589	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr3:57494915G>T	ENST00000351747.2	-	6	674	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.P165Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.P165Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	165	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGATTTAACTGGTGGTTTCAC	0.313													G|||	23	0.00459265	8e-04	0.0115	5008	,	,		17393	0		0.0139	False		,,,				2504	0				p.P165Q		.											.	DNAH12-47	0			c.C494A						.	G	GLN/PRO,GLN/PRO	12,4394	19.1+/-41.9	0,12,2191	83	85	84		494,494	2.7	0.8	3	dbSNP_132	84	109,8489	59.5+/-121.1	0,109,4190	yes	missense,missense	DNAH12	NM_178504.4,NM_198564.3	76,76	0,121,6381	TT,TG,GG		1.2677,0.2724,0.9305	probably-damaging,probably-damaging	165/3093,165/458	57494915	121,12883	2203	4299	6502	SO:0001583	missense	201625	exon6			TTAACTGGTGGTT	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.494C>A	3.37:g.57494915G>T	ENSP00000295937:p.Pro165Gln	Somatic	270	0		WXS	Illumina GAIIx	Phase_I	170	6	NM_198564	0	0	0	0	0	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	G	7.794	0.712208	0.15306	0.002724	0.012677	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20598	2.21;2.06;3.67;3.12	5.68	2.65	0.31530	.	0.476524	0.18836	N	0.129836	T	0.08935	0.0221	L	0.51422	1.61	0.09310	N	1	B;B	0.27559	0.181;0.047	B;B	0.24701	0.055;0.01	T	0.14035	-1.0487	10	0.24483	T	0.36	.	9.9707	0.41752	0.0:0.1115:0.3122:0.5764	.	165;165	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	Q	165	ENSP00000295937:P165Q;ENSP00000418137:P165Q;ENSP00000374187:P165Q;ENSP00000312554:P165Q	ENSP00000312554:P165Q	P	-	2	0	DNAH12	57469955	0.055000	0.20627	0.754000	0.31244	0.998000	0.95712	0.763000	0.26517	0.706000	0.31912	0.585000	0.79938	CCA	G|0.990;T|0.010		0.313	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		T	57494915	G	T	57494915	3	4	33	1	0	0	0	0	1	0	0	0	4614	1348	47	3	9043	3	DNAH12	3	57494915	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	4940884	57494915	140527515	24	8242											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733053	126733053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcccggccctgcgCgagagctgcggcctctgcct	13	16	1	1	rs11719489	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18	21	20		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	24	11	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733053	C	T	126733053	2	4	33	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLXNA1	3	126733053	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	69238138	126733053	71289377	25	8243											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	72	9		WXS	Illumina GAIIx	Phase_I	203	71	NM_000203	0	0	0	0	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	33	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10		996204	190158072	26	8244											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	30726021	30726021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggcagtcctgacctgGcaaggcattacaaatctagt	11	12	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:30726021G>A	ENST00000361762.2	+	1	3985	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	PCDH7_ENST00000543491.1_Missense_Mutation_p.A993T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	993					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						TCCTGACCTGGCAAGGCATTA	0.512																																					p.A993T		.											.	PCDH7-229	0			c.G2977A						.						89	89	89					4																	30726021		2203	4300	6503	SO:0001583	missense	5099	exon1			GACCTGGCAAGGC	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.2977G>A	4.37:g.30726021G>A	ENSP00000355243:p.Ala993Thr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	105	9	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.967959|3.967959	0.74131|0.74131	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.40756|.	1.02;1.02|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.76637|0.76637	0.4015|0.4015	M|M	0.74647|0.74647	2.275|2.275	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.73380|.	0.966;0.966;0.98|.	T|T	0.76211|0.76211	-0.3042|-0.3042	9|5	0.87932|.	D|.	0|.	.|.	18.6577|18.6577	0.91460|0.91460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	993;946;993|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	T|D	993;993;946|682	ENSP00000355243:A993T;ENSP00000441802:A993T|.	ENSP00000330302:A946T|.	A|G	+|+	1|2	0|0	PCDH7|PCDH7	30335119|30335119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.263000|9.263000	0.95617|0.95617	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GCA|GGC	.		0.512	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30726021	G	A	30726021	3	1	33	1	0	0	0	0	1	0	0	0	11555	1203	42	3	2979	3	PCDH7	4	30726021	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	29729817	30726021	160428255	27	8245											
POLR2B	5431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	57889711	57889711	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatcaggttatggtaactCtcaatcaggaaggatataaa	10	5	3	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:57889711C>A	ENST00000381227.1	+	20	3144	c.2731C>A	c.(2731-2733)Ctc>Atc	p.L911I	POLR2B_ENST00000441246.2_Missense_Mutation_p.L904I|POLR2B_ENST00000314595.5_Missense_Mutation_p.L911I|POLR2B_ENST00000431623.2_Missense_Mutation_p.L836I			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	911					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATGGTAACTCTCAATCAGGA	0.373																																					p.L911I		.											.	POLR2B-92	0			c.C2731A						.						92	94	93					4																	57889711		2203	4300	6503	SO:0001583	missense	5431	exon19			GTAACTCTCAATC		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2731C>A	4.37:g.57889711C>A	ENSP00000370625:p.Leu911Ile	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	78	13	NM_000938	0	0	0	0	0	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789941	0.50102	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	6.04	4.31	0.51392	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.062472	0.64402	D	0.000003	T	0.50667	0.1629	N	0.02708	-0.52	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.50701	-0.8797	10	0.52906	T	0.07	.	11.2652	0.49106	0.0:0.8046:0.0:0.1954	.	836;911	C9J4M6;P30876	.;RPB2_HUMAN	I	911;836;904;911	ENSP00000370625:L911I;ENSP00000391096:L836I;ENSP00000391452:L904I;ENSP00000312735:L911I	ENSP00000312735:L911I	L	+	1	0	POLR2B	57584468	0.998000	0.40836	0.999000	0.59377	0.985000	0.73830	3.905000	0.56333	1.571000	0.49722	0.563000	0.77884	CTC	.		0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57889711	C	A	57889711	3	1	33	1	0	0	0	0	1	0	0	0	12254	913	32	3	2805	3	POLR2B	4	57889711	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	27163690	57889711	133264565	28	8246											
ADH6	130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	100131302	100131302	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctaattaggcatactttCtctagaggagcgactgcatc	9	10	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:100131302C>T	ENST00000237653.7	-	5	888	c.504G>A	c.(502-504)gaG>gaA	p.E168E	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Silent_p.E168E|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Silent_p.E168E|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	168					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)	GGCATACTTTCTCTAGAGGAG	0.413																																					p.E168E		.											.	ADH6-228	0			c.G504A						.						120	117	118					4																	100131302		2203	4300	6503	SO:0001819	synonymous_variant	130	exon5			TACTTTCTCTAGA	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.504G>A	4.37:g.100131302C>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	88	17	NM_000672	0	0	0	0	0	B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	CCDS3647.1																																																																																			.		0.413	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		T	100131302	C	T	100131302	2	4	33	1	0	0	0	0	0	0	0	1	312	912	32	3		3	ADH6	4	100131302	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	42241591	100131302	91022974	29	8247											
SLC39A8	64116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	103180638	103180638	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatccaaagtaaatgaagttGagatttgatgtcatcagtag	9	4	2	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:103180638G>C	ENST00000394833.2	-	0	3238				SLC39A8_ENST00000424970.2_Missense_Mutation_p.Q434E	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAATGAAGTTGAGATTTGATG	0.333																																					p.Q434E		.											.	SLC39A8-90	0			c.C1300G						.						212	174	185					4																	103180638		692	1591	2283	SO:0001628	intergenic_variant	64116	exon10			GAAGTTGAGATTT		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120		4.37:g.103180638G>C		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	73	19	NM_001135147	0	0	0	0	0	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359753	0.11239	.	.	ENSG00000138821	ENST00000424970	T	0.68479	-0.33	2.29	-1.83	0.07833	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.17048	-1.0382	8	0.29301	T	0.29	.	3.8453	0.08933	0.2716:0.3978:0.3306:0.0	.	434	B4E2H3	.	E	434	ENSP00000394548:Q434E	ENSP00000394548:Q434E	Q	-	1	0	SLC39A8	103399661	0.001000	0.12720	0.010000	0.14722	0.069000	0.16628	-1.169000	0.03120	-0.585000	0.05905	-0.676000	0.03789	CAA	.		0.333	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		C	103180638	G	C	103180638	1	2	33	0	1	0	0	0	0	0	0	0	14669	1299	45	3		3	SLC39A8	4	103180638	IGR	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	3049336	103180638	87973638	30	8248											
DCHS2	54798	broad.mit.edu	37	chr4	155412464	155412464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccgaccggagcccgcCgctgctgacgcccttcgccc	11	21	0	1	rs13149269	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr4:155412464C>T	ENST00000339452.1	-	1	404	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	DCHS2_ENST00000456341.2_Missense_Mutation_p.R8Q|DCHS2_ENST00000443500.1_Missense_Mutation_p.R15Q	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	491					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)		CGGAGCCCGCCGCTGCTGACG	0.672													C|||	1867	0.372804	0.3502	0.4885	5008	,	,		16047	0.1647		0.4612	False		,,,				2504	0.4448				p.R15Q		.											.	DCHS2-94	0			c.G44A						.						7	14	12					4																	155412464		678	1559	2237	SO:0001583	missense	54798	exon1			GCCCGCCGCTGCT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.44G>A	4.37:g.155412464C>T	ENSP00000345062:p.Arg15Gln	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	159	6	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	785	0.35943223443223443	177	0.3597560975609756	173	0.47790055248618785	82	0.14335664335664336	353	0.4656992084432718	C	10.79	1.450518	0.26074	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.58506	0.33;0.38;0.39	5.35	-10.7	0.00240	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.17268	0.021;0.021	B;B	0.08055	0.003;0.003	T	0.04607	-1.0939	7	0.18710	T	0.47	.	5.0984	0.14747	0.3583:0.1213:0.4102:0.1103	rs13149269;rs17373888	15;15	E9PG03;E9PC11	.;.	Q	15;15;8;15	ENSP00000345062:R15Q;ENSP00000408543:R8Q;ENSP00000395539:R15Q	ENSP00000345062:R15Q	R	-	2	0	DCHS2	155631914	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.236000	0.00268	-4.157000	0.00069	-2.548000	0.00178	CGG	C|0.652;N|0.001		0.672	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		T	155412464	C	T	155412464	3	4	33	1	0	0	0	0	1	0	0	0	4297	652	23	1	11040	1	DCHS2	4	155412464	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	52231826	155412464	35741812	31	8249											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	13792259	13792259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcagaggcaccaatttTgtcacagaatctctcacttc	7	12	4	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr5:13792259T>C	ENST00000265104.4	-	50	8396	c.8292A>G	c.(8290-8292)acA>acG	p.T2764T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2764	AAA 3. {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)					GCACCAATTTTGTCACAGAAT	0.433									Kartagener syndrome																												p.T2764T		.											.	DNAH5-182	0			c.A8292G						.						112	109	110					5																	13792259		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon50	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CAATTTTGTCACA	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.8292A>G	5.37:g.13792259T>C		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	82	5	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13792259	T	C	13792259	2	2	33	1	0	0	0	0	0	0	0	1	4618	1799	63	4		4	DNAH5	5	13792259	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10		13792259	167123001	32	8250											
RAI14	26064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	34823555	34823555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaataaatgtgctaaaGcaggatctgcagaatgcatt	11	5	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr5:34823555G>A	ENST00000265109.3	+	15	1895	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	RAI14_ENST00000515799.1_Silent_p.K539K|RAI14_ENST00000512629.1_Silent_p.K507K|RAI14_ENST00000506376.1_Silent_p.K528K|RAI14_ENST00000397449.1_Silent_p.K529K|RAI14_ENST00000428746.2_Silent_p.K536K|RAI14_ENST00000503673.1_Silent_p.K536K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	536						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATGTGCTAAAGCAGGATCTGC	0.403																																					p.K539K		.											.	RAI14-91	0			c.G1617A						.						55	53	54					5																	34823555		2203	4300	6503	SO:0001819	synonymous_variant	26064	exon17			GCTAAAGCAGGAT	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1608G>A	5.37:g.34823555G>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	117	18	NM_001145525	0	0	0	0	0	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																			.		0.403	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		A	34823555	G	A	34823555	2	1	33	1	0	0	0	0	0	0	0	1	13053	962	34	3		3	RAI14	5	34823555	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	21031296	34823555	146091705	33	8251											
ADAMTS19	171019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	128977578	128977578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttgcacaggattatggtgCaaggtagaaggtgagaaaga	14	3	0	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr5:128977578C>G	ENST00000274487.4	+	11	1924	c.1779C>G	c.(1777-1779)tgC>tgG	p.C593W	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	593	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATTATGGTGCAAGGTAGAAG	0.388																																					p.C593W		.											.	ADAMTS19-295	0			c.C1779G						.						216	181	193					5																	128977578		2203	4300	6503	SO:0001583	missense	171019	exon11			ATGGTGCAAGGTA	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1779C>G	5.37:g.128977578C>G	ENSP00000274487:p.Cys593Trp	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	161	37	NM_133638	0	0	0	0	0		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717355	0.48622	.	.	ENSG00000145808	ENST00000274487	T	0.68331	-0.32	3.85	1.98	0.26296	.	0.000000	0.64402	D	0.000003	D	0.83667	0.5304	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81711	-0.0808	9	.	.	.	.	5.527	0.16962	0.0:0.4597:0.0:0.5403	.	593	Q8TE59	ATS19_HUMAN	W	593	ENSP00000274487:C593W	.	C	+	3	2	ADAMTS19	129005477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.822000	0.39052	0.538000	0.28769	0.591000	0.81541	TGC	.		0.388	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128977578	C	G	128977578	3	3	33	1	0	0	0	0	1	0	0	0	264	718	25	3	1821	3	ADAMTS19	5	128977578	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	94154023	128977578	51937682	34	8252											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	33	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	3172106	132149684	48765576	35	8253											
GEMIN5	25929	bcgsc.ca	37	chr5	154299581	154299581	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaaggcttctccactAagcttccagggattatgctg	9	10	2	0	rs61758976	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr5:154299581A>G	ENST00000285873.7	-	11	1620	c.1545T>C	c.(1543-1545)ctT>ctC	p.L515L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	515					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCTCCACTAAGCTTCCAGG	0.413													A|||	15	0.00299521	0.0015	0.0043	5008	,	,		18255	0		0.0099	False		,,,				2504	0				p.L515L		.											.	GEMIN5-228	0			c.T1545C						.	A		14,4392	22.3+/-47.3	0,14,2189	177	150	159		1545	-9.1	0.8	5	dbSNP_129	159	133,8467	66.7+/-129.0	4,125,4171	no	coding-synonymous	GEMIN5	NM_015465.3		4,139,6360	GG,GA,AA		1.5465,0.3177,1.1302		515/1509	154299581	147,12859	2203	4300	6503	SO:0001819	synonymous_variant	25929	exon11			TCCACTAAGCTTC	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.1545T>C	5.37:g.154299581A>G		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	164	7	NM_015465	0	0	0	0	0	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																			A|0.990;G|0.010		0.413	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			G	154299581	A	G	154299581	2	3	33	1	0	0	0	0	0	0	0	1	6357	349	13	4		4	GEMIN5	5	154299581	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	22149897	154299581	26615679	36	8254											
RREB1	6239	hgsc.bcm.edu	37	chr6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcggcctgggcggggGccacaagggccgcaagccct	18	16	0	0	rs9502564	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000379938.2_Missense_Mutation_p.G783V|RREB1_ENST00000334984.6_Missense_Mutation_p.G783V|RREB1_ENST00000379933.3_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		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)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9	9	9		2348,2348,2348,2348	5.3	1	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	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.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	16	5	NM_001003700	0	0	0	0	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230680	G	T	7230680	3	4	33	1	0	0	0	0	1	0	0	0	13724	1203	42	3	2374	3	RREB1	6	7230680	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		7230680	163884387	37	8255											
MAK	4117	broad.mit.edu	37	chr6	10796402	10796402	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgatcgattatatccggCagaggcttaggctctacctc	9	12	1	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:10796402C>G	ENST00000313243.2	-	9	1354	c.972G>C	c.(970-972)ctG>ctC	p.L324L	MAK_ENST00000538030.1_Silent_p.L324L|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Silent_p.L324L|MAK_ENST00000354489.2_Silent_p.L324L|MAK_ENST00000536370.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	324	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTATATCCGGCAGAGGCTTAG	0.488																																					p.L324L		.											.	MAK-335	0			c.G972C						.						115	117	116					6																	10796402		2203	4300	6503	SO:0001819	synonymous_variant	4117	exon9			ATCCGGCAGAGGC		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.972G>C	6.37:g.10796402C>G		Somatic	91	1		WXS	Illumina GAIIx	Phase_I	108	3	NM_005906	0	0	0	0	0	F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	CCDS4516.1																																																																																			.		0.488	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		G	10796402	C	G	10796402	2	3	33	1	0	0	0	0	0	0	0	1	9235	697	25	3		3	MAK	6	10796402	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	3565722	10796402	160318665	38	8256											
KIF13A	63971	bcgsc.ca	37	chr6	17987327	17987327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggagggtgcaggaccGtttgattcccttccatctcc	12	11	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:17987327G>T	ENST00000259711.6	-	2	209	c.104C>A	c.(103-105)aCg>aAg	p.T35K	KIF13A_ENST00000502704.1_Missense_Mutation_p.T35K|KIF13A_ENST00000378816.5_Missense_Mutation_p.T35K|KIF13A_ENST00000378826.2_Missense_Mutation_p.T35K|KIF13A_ENST00000378843.2_Missense_Mutation_p.T35K|KIF13A_ENST00000378814.5_Missense_Mutation_p.T35K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	35	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGCAGGACCGTTTGATTCCC	0.582																																					p.T35K		.											.	KIF13A-137	0			c.C104A						.						140	150	147					6																	17987327		1980	4154	6134	SO:0001583	missense	63971	exon2			AGGACCGTTTGAT	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.104C>A	6.37:g.17987327G>T	ENSP00000259711:p.Thr35Lys	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_001105567	0	0	0	0	0	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503121	0.85176	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000502704	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.05	2.12	0.27331	Kinesin, motor domain (4);	0.141177	0.44902	D	0.000402	D	0.92090	0.7493	M	0.84683	2.71	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.992;0.995;0.961;0.995	D	0.91625	0.5314	10	0.87932	D	0	.	10.2729	0.43493	0.0:0.1319:0.5945:0.2735	.	35;35;35;35	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	K	35	ENSP00000368091:T35K;ENSP00000259711:T35K;ENSP00000368103:T35K;ENSP00000368120:T35K;ENSP00000368093:T35K;ENSP00000425453:T35K	ENSP00000259711:T35K	T	-	2	0	KIF13A	18095306	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	6.109000	0.71528	0.109000	0.17891	0.561000	0.74099	ACG	.		0.582	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17987327	G	T	17987327	3	4	33	1	0	0	0	0	1	0	0	0	8301	1145	40	2	5490	2	KIF13A	6	17987327	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	7190925	17987327	153127740	39	8257											
HIST1H1A	3024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26017333	26017333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactttttcttgggtgccgCtttcttgggtttggcagtct	11	8	3	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:26017333C>T	ENST00000244573.3	-	1	707	c.628G>A	c.(628-630)Gcg>Acg	p.A210T		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	210					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TTGGGTGCCGCTTTCTTGGGT	0.468																																					p.A210T		.											.	HIST1H1A-92	0			c.G628A						.						112	114	113					6																	26017333		2203	4300	6503	SO:0001583	missense	3024	exon1			GTGCCGCTTTCTT	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.628G>A	6.37:g.26017333C>T	ENSP00000244573:p.Ala210Thr	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	135	20	NM_005325	0	0	0	0	0	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	17.75	3.465276	0.63513	.	.	ENSG00000124610	ENST00000244573	T	0.05139	3.49	4.31	3.44	0.39384	.	0.121394	0.53938	N	0.000047	T	0.01730	0.0055	N	0.12961	0.28	0.58432	D	0.999997	B	0.25390	0.125	B	0.23716	0.048	T	0.46091	-0.9216	10	0.49607	T	0.09	-10.2756	12.1608	0.54103	0.0:0.9144:0.0:0.0856	.	210	Q02539	H11_HUMAN	T	210	ENSP00000244573:A210T	ENSP00000244573:A210T	A	-	1	0	HIST1H1A	26125312	0.683000	0.27633	0.978000	0.43139	0.906000	0.53458	0.488000	0.22371	1.103000	0.41568	0.609000	0.83330	GCG	.		0.468	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		T	26017333	C	T	26017333	3	4	33	1	0	0	0	0	1	0	0	0	7149	797	28	3	23	3	HIST1H1A	6	26017333	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	8030006	26017333	145097734	40	8258											
NKAPL	222698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	28227192	28227192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattccgaggacatcgtgGgctctcggagaaggcgacgc	15	11	1	1	rs144318583		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:28227192G>A	ENST00000343684.3	+	1	95	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	15										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGACATCGTGGGCTCTCGGAG	0.662																																					p.G15S		.											.	NKAPL-70	0			c.G43A						.						32	30	30					6																	28227192		2201	4295	6496	SO:0001583	missense	222698	exon1			ATCGTGGGCTCTC	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.43G>A	6.37:g.28227192G>A	ENSP00000345716:p.Gly15Ser	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	194	46	NM_001007531	0	0	0	0	0	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836234	0.32421	.	.	ENSG00000189134	ENST00000343684	T	0.13778	2.56	3.47	-0.641	0.11490	.	2.545070	0.02087	N	0.052873	T	0.02494	0.0076	L	0.28115	0.83	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.39583	-0.9607	10	0.39692	T	0.17	0.7346	0.7958	0.01065	0.2257:0.1851:0.3996:0.1895	.	15	Q5M9Q1	NKAPL_HUMAN	S	15	ENSP00000345716:G15S	ENSP00000345716:G15S	G	+	1	0	NKAPL	28335171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.254000	0.18314	-0.147000	0.11254	-0.137000	0.14449	GGC	G|1.000;T|0.000		0.662	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			A	28227192	G	A	28227192	3	1	33	1	0	0	0	0	1	0	0	0	10479	1232	43	3	45	3	NKAPL	6	28227192	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	2209859	28227192	142887875	41	8259											
C6orf136	221545	hgsc.bcm.edu	37	chr6	30615205	30615205	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacccgccgccccttcccaCctgtgccctgcagcgcgtgg	10	21	0	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:30615205C>T	ENST00000376473.5	+	1	231				C6orf136_ENST00000293604.6_Missense_Mutation_p.T66I|C6orf136_ENST00000528347.2_5'Flank|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000493705.1_Intron|C6orf136_ENST00000376471.4_Intron	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCCTTCCCACCTGTGCCCTG	0.741																																					p.T66I		.											.	C6orf136-90	0			c.C197T						.						2	3	2					6																	30615205		428	1180	1608	SO:0001627	intron_variant	221545	exon1			TTCCCACCTGTGC	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.72+125C>T	6.37:g.30615205C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	17	13	NM_001161376	0	0	0	0	0	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	c	35	5.498219	0.96355	.	.	ENSG00000204564	ENST00000293604;ENST00000446773	.	.	.	5.06	4.19	0.49359	.	.	.	.	.	T	0.19446	0.0467	N	0.08118	0	0.80722	D	1	P	0.40731	0.728	P	0.44359	0.447	T	0.09037	-1.0693	8	0.87932	D	0	.	8.4514	0.32873	0.0:0.8962:0.0:0.1038	.	66	F8VX15	.	I	66;3	.	ENSP00000293604:T66I	T	+	2	0	C6orf136	30723184	0.005000	0.15991	0.930000	0.37139	0.703000	0.40648	1.536000	0.36072	2.351000	0.79841	0.655000	0.94253	ACC	.		0.741	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		T	30615205	C	T	30615205	1	4	33	0	1	0	0	0	0	0	0	0	2338	507	18	3		3	C6orf136	6	30615205	Intron	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	2388013	30615205	140499862	42	8260											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	11	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	33	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	8666831	39282036	131833031	43	8261											
TIAM2	26230	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	155503406	155503406	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagcgtcagcatctcagccgGatatttataagcgacgttct	10	10	3	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr6:155503406G>T	ENST00000461783.3	+	15	4027	c.2754G>T	c.(2752-2754)cgG>cgT	p.R918R	TIAM2_ENST00000367174.2_Silent_p.R294R|TIAM2_ENST00000360366.4_Silent_p.R942R|TIAM2_ENST00000456877.2_Silent_p.R230R|TIAM2_ENST00000529824.2_Silent_p.R918R|TIAM2_ENST00000528391.2_Silent_p.R254R|TIAM2_ENST00000318981.5_Silent_p.R918R|TIAM2_ENST00000456144.1_Silent_p.R918R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	918	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCTCAGCCGGATATTTATAA	0.507																																					p.R918R		.											.	TIAM2-93	0			c.G2754T						.						226	206	213					6																	155503406		2203	4300	6503	SO:0001819	synonymous_variant	26230	exon12			CAGCCGGATATTT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2754G>T	6.37:g.155503406G>T		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	203	48	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																			.		0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155503406	G	T	155503406	2	4	33	1	0	0	0	0	0	0	0	1	15938	1161	41	3		3	TIAM2	6	155503406	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	116221370	155503406	15611661	44	8262											
GPNMB	10457	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	23313809	23313809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggaaaaggatccgcTactcaaaaaccaagaattta	6	9	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:23313809T>C	ENST00000381990.2	+	11	1846	c.1685T>C	c.(1684-1686)cTa>cCa	p.L562P	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Missense_Mutation_p.L451P|GPNMB_ENST00000258733.4_Missense_Mutation_p.L550P|GPNMB_ENST00000453162.2_Missense_Mutation_p.L504P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	562					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)			AAGGATCCGCTACTCAAAAAC	0.443																																					p.L562P		.											.	GPNMB-580	0			c.T1685C						.						80	83	82					7																	23313809		2203	4300	6503	SO:0001583	missense	10457	exon11			ATCCGCTACTCAA	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.1685T>C	7.37:g.23313809T>C	ENSP00000371420:p.Leu562Pro	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	44	11	NM_001005340	0	0	0	0	0	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380394	0.61845	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.31769	1.55;1.5;1.57;1.48	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000116	T	0.55401	0.1918	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.58025	-0.7709	10	0.87932	D	0	-13.7934	16.0444	0.80711	0.0:0.0:0.0:1.0	.	451;504;562;550	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	P	550;597;562;445;451;504	ENSP00000258733:L550P;ENSP00000371420:L562P;ENSP00000445266:L451P;ENSP00000405586:L504P	ENSP00000258733:L550P	L	+	2	0	GPNMB	23280334	1.000000	0.71417	0.998000	0.56505	0.373000	0.29922	5.154000	0.64894	2.271000	0.75665	0.459000	0.35465	CTA	.		0.443	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		C	23313809	T	C	23313809	3	2	33	1	0	0	0	0	1	0	0	0	6646	1522	53	4	1727	4	GPNMB	7	23313809	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10		23313809	135824854	45	8263											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	33	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	7320852	30634661	128504002	46	8264											
FZD9	8326	hgsc.bcm.edu	37	chr7	72848664	72848664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctcgacgcccattccCgcctgccggcccatgtgcga	11	18	1	0	rs142125301	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:72848664C>T	ENST00000344575.3	+	1	556	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	109	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCCATTCCCGCCTGCCGGC	0.701													C|||	18	0.00359425	8e-04	0.0216	5008	,	,		6866	0		0.002	False		,,,				2504	0				p.P109P	Pancreas(144;909 1878 36867 38226 39554)	.											.	FZD9-1082	0			c.C327T						.	C		2,4236		0,2,2117	11	9	10		327	1.8	1	7	dbSNP_134	10	6,8352		0,6,4173	no	coding-synonymous	FZD9	NM_003508.2		0,8,6290	TT,TC,CC		0.0718,0.0472,0.0635		109/592	72848664	8,12588	2119	4179	6298	SO:0001819	synonymous_variant	8326	exon1			CATTCCCGCCTGC	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.327C>T	7.37:g.72848664C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	32	12	NM_003508	0	0	0	0	0		Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																			C|0.998;T|0.002		0.701	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			T	72848664	C	T	72848664	2	4	33	1	0	0	0	0	0	0	0	1	6161	639	23	1		1	FZD9	7	72848664	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	42214003	72848664	86289999	47	8265											
DBF4	10926	broad.mit.edu;bcgsc.ca	37	chr7	87529633	87529633	+	Frame_Shift_Del	DEL	A	A	-													ttgatgtagacaagccatctAgtatgcaaaagcaaactcag							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:87529633delA	ENST00000265728.1	+	9	1282	c.778delA	c.(778-780)agtfs	p.S260fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	260					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAAGCCATCTAGTATGCAAAA	0.318																																					p.S260fs		.											.	DBF4-253	0			c.778delA						.						64	67	66					7																	87529633		2202	4294	6496	SO:0001589	frameshift_variant	10926	exon9			CCATCTAGTATGC	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.778delA	7.37:g.87529633delA	ENSP00000265728:p.Ser260fs	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	94	12	NM_006716	0	0	0	0	0	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Del	DEL	ENST00000265728.1	37	CCDS5611.1																																																																																			.		0.318	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		-	87529633	A	-	87529633	7	5	33	1	0	1	0	1	0	0	0	0	4257	420	15	0	812	0	DBF4	7	87529633	Frame_Shift_Del	DEL	A	TCGA-OR-A5KP-01A-11D-A30A-10	14680969	87529633	71609030	48	8266											
FZD1	8321	hgsc.bcm.edu	37	chr7	90894459	90894460	+	In_Frame_Ins	INS	-	-	CCG													ggcccgggccggggcagcaaINSccgccgccgccgcctcagca					rs71292991|rs139480179	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:90894459_90894460insCCG	ENST00000287934.2	+	1	677_678	c.264_265insCCG	c.(265-267)ccg>CCGccg	p.89_89P>PP		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	89	Poly-Pro.				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)			cggggcAGCAACCGCCGCCGCC	0.743														1874	0.374201	0.4047	0.4625	5008	,	,		10872	0.2986		0.4294	False		,,,				2504	0.2914				p.Q88delinsQP		.											.	FZD1-658	3	Insertion - In frame(3)	breast(2)|liver(1)	c.264_265insCCG						.			1606,5,2563		359,2,886,0,3,837						0.6	1		dbSNP_134	11	3182,3,4959		703,0,1776,1,1,1591	no	codingComplex	FZD1	NM_003505.1		1062,2,2662,1,4,2428	A1A1,A1A2,A1R,A2A2,A2R,RR		39.1085,38.5961,38.9349				4788,8,7522				SO:0001652	inframe_insertion	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.274_276dupCCG	7.37:g.90894466_90894468dupCCG	ENSP00000287934:p.Pro93dup	Somatic	7	2		WXS	Illumina GAIIx	Phase_I	25	16	NM_003505	0	0	0	0	0	A4D1E8|O94815|Q549T8	In_Frame_Ins	INS	ENST00000287934.2	37	CCDS5620.1																																																																																			-|0.606;CCG|0.394		0.743	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		CCG	90894460	-	CCG	90894459	7	5	33	1	0	1	1	0	0	0	0	0	6152	40	2	0	266	0	FZD1	7	90894459	In_Frame_Ins	INS	-	TCGA-OR-A5KP-01A-11D-A30A-10	3364826	90894459	68244204	49	8267											
ZNF775	285971	hgsc.bcm.edu	37	chr7	150094851	150094851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccgggggcccgggacAcgctgtggggccggggacaa	20	13	0	0	rs13225910	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:150094851A>G	ENST00000329630.5	+	3	1389	c.1282A>G	c.(1282-1284)Acg>Gcg	p.T428A		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	428			T -> A (in dbSNP:rs13225910).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCCGGGACACGCTGTGGGG	0.756													G|||	1894	0.378195	0.2814	0.3228	5008	,	,		7213	0.4702		0.4354	False		,,,				2504	0.3947				p.T428A		.											.	ZNF775-90	0			c.A1282G						.	G	ALA/THR	951,2643		177,597,1023	4	5	4		1282	1.2	0	7	dbSNP_121	4	2946,4600		676,1594,1503	no	missense	ZNF775	NM_173680.3	58	853,2191,2526	GG,GA,AA		39.0406,26.4608,34.982	benign	428/538	150094851	3897,7243	1797	3773	5570	SO:0001583	missense	285971	exon3			CGGGACACGCTGT	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1282A>G	7.37:g.150094851A>G	ENSP00000330838:p.Thr428Ala	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_173680	0	0	0	0	0	Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	CCDS43678.1	922	0.42216117216117216	169	0.3434959349593496	128	0.35359116022099446	298	0.5209790209790209	327	0.4313984168865435	G	0.004	-2.282788	0.00251	0.264608	0.390406	ENSG00000196456	ENST00000329630	T	0.08008	3.14	3.27	1.23	0.21249	.	.	.	.	.	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35325	-0.9793	7	.	.	.	.	3.7266	0.08477	0.2539:0.2047:0.5414:0.0	rs13225910	428	Q96BV0	ZN775_HUMAN	A	428	ENSP00000330838:T428A	.	T	+	1	0	ZNF775	149725784	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.602000	0.24134	0.141000	0.18875	-0.213000	0.12676	ACG	A|0.578;G|0.422		0.756	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		G	150094851	A	G	150094851	3	3	33	1	0	0	0	0	1	0	0	0	18196	159	6	4	1288	4	ZNF775	7	150094851	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	59200392	150094851	9043812	50	8268											
MLL3	58508	broad.mit.edu	37	chr7	151843708	151843709	+	Frame_Shift_Del	DEL	AG	AG	-													tccgctatgcgtgccactgcAgagacggtcaggccaaacag							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr7:151843708_151843709delAG	ENST00000262189.6	-	53	14224_14225	c.14006_14007delCT	c.(14005-14007)tctfs	p.S4669fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S4726fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4669	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				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)										GTGCCACTGCAGAGACGGTCAG	0.465											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.4669_4669del		.											.	MLL3-1398	0			c.14006_14007del						.																																			SO:0001589	frameshift_variant	58508	exon53			CACTGCAGAGACG	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.14006_14007delCT	7.37:g.151843710_151843711delAG	ENSP00000262189:p.Ser4669fs	Somatic	32	0	1743	WXS	Illumina GAIIx	Phase_I	56	9	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																			.		0.465	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151843709	AG	-	151843708	7	5	33	1	0	1	0	1	0	0	0	0	9660	175	7	0	756	0	MLL3	7	151843708	Frame_Shift_Del	DEL	AG	TCGA-OR-A5KP-01A-11D-A30A-10	1748857	151843708	7294955	51	8269											
SLC20A2	6575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	42317494	42317494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtgcccggaggccaTtgggaacagggtcttcctgt	16	10	1	0	rs142888552		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr8:42317494T>C	ENST00000342228.3	-	5	902	c.533A>G	c.(532-534)aAt>aGt	p.N178S	SLC20A2_ENST00000520179.1_Missense_Mutation_p.N178S|SLC20A2_ENST00000520262.1_Missense_Mutation_p.N178S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	178					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)			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)			CCGGAGGCCATTGGGAACAGG	0.483													T|||	1	0.000199681	8e-04	0	5008	,	,		20080	0		0	False		,,,				2504	0				p.N178S		.											.	SLC20A2-92	0			c.A533G						.	T	SER/ASN	4,4402	8.1+/-20.4	0,4,2199	79	70	73		533	6	1	8	dbSNP_134	73	0,8600		0,0,4300	yes	missense	SLC20A2	NM_006749.3	46	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	probably-damaging	178/653	42317494	4,13002	2203	4300	6503	SO:0001583	missense	6575	exon5			AGGCCATTGGGAA		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.533A>G	8.37:g.42317494T>C	ENSP00000340465:p.Asn178Ser	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	106	27	NM_001257181	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211250	0.58343	9.08E-4	0.0	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90069	-2.61;-2.61;-2.61	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	L	0.49256	1.55	0.80722	D	1	D	0.56287	0.975	D	0.63113	0.911	D	0.88890	0.3345	10	0.21014	T	0.42	-23.5636	14.4016	0.67050	0.0:0.0:0.0:1.0	.	178	Q08357	S20A2_HUMAN	S	178	ENSP00000340465:N178S;ENSP00000429754:N178S;ENSP00000429712:N178S	ENSP00000340465:N178S	N	-	2	0	SLC20A2	42436651	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	8.036000	0.88901	2.284000	0.76573	0.533000	0.62120	AAT	T|0.999;C|0.001		0.483	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			C	42317494	T	C	42317494	3	2	33	1	0	0	0	0	1	0	0	0	14484	1493	52	4	1453	4	SLC20A2	8	42317494	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10		42317494	104046528	52	8270											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	33	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5KP-01A-11D-A30A-10	77903282	120220776	26143246	53	8271											
POU5F1B	5462	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	128428589	128428589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagaagaggatcaccCtgggatatacacaggccgat	12	9	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr8:128428589C>T	ENST00000465342.2	+	2	1635	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.L160L			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	160	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.			L -> P (in Ref. 5; ADW77417). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GAGGATCACCCTGGGATATAC	0.527																																					p.L160L		.											.	.	0			c.C478T						.						44	52	49					8																	128428589		692	1591	2283	SO:0001819	synonymous_variant	5462	exon1			ATCACCCTGGGAT	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.478C>T	8.37:g.128428589C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	53	5	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		T	128428589	C	T	128428589	2	4	33	1	0	0	0	0	0	0	0	1	12321	680	24	3		3	POU5F1B	8	128428589	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	8207813	128428589	17935433	54	8272											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	33	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	15950279	144378868	1985154	55	8273											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	7	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	33	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	622720	145001588	1362434	56	8274											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	33	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		5832728	135380703	57	8275											
HDHD3	81932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	116135916	116135916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctctaggcagtcaaggGcaggcaggagatgggccaga	16	10	2	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr9:116135916G>A	ENST00000238379.5	-	2	1616	c.719C>T	c.(718-720)gCc>gTc	p.A240V	HDHD3_ENST00000485934.1_5'Flank|HDHD3_ENST00000374180.3_Missense_Mutation_p.A240V	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	240						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GCAGTCAAGGGCAGGCAGGAG	0.587																																					p.A240V		.											.	HDHD3-90	0			c.C719T						.						78	81	80					9																	116135916		2203	4300	6503	SO:0001583	missense	81932	exon2			TCAAGGGCAGGCA	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.719C>T	9.37:g.116135916G>A	ENSP00000238379:p.Ala240Val	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	58	16	NM_031219	0	0	0	0	0	B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316379	0.40996	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.40756	1.02;1.02	5.74	5.74	0.90152	HAD-like domain (1);	0.509796	0.21282	N	0.077131	T	0.18087	0.0434	N	0.19112	0.55	0.33568	D	0.598207	P	0.38992	0.653	B	0.23852	0.049	T	0.19160	-1.0314	10	0.13108	T	0.6	-17.6322	5.2559	0.15546	0.0768:0.1441:0.6294:0.1496	.	240	Q9BSH5	HDHD3_HUMAN	V	240	ENSP00000238379:A240V;ENSP00000363295:A240V	ENSP00000238379:A240V	A	-	2	0	HDHD3	115175737	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.842000	0.39250	2.716000	0.92895	0.650000	0.86243	GCC	.		0.587	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		A	116135916	G	A	116135916	3	1	33	1	0	0	0	0	1	0	0	0	7051	1203	42	3	40	3	HDHD3	9	116135916	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	110303188	116135916	25077515	58	8276											
CACNA1B	774	hgsc.bcm.edu	37	chr9	140917779	140917779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgacaaggacaagacccccGcggcgggggaccaggaccga	16	14	0	1	rs7873074	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr9:140917779G>T	ENST00000371372.1	+	19	2729	c.2584G>T	c.(2584-2586)Gcg>Tcg	p.A862S	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A862S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A863S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A863S|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A54S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A862S|CACNA1B_ENST00000371367.5_5'Flank|CACNA1B_ENST00000545473.1_5'Flank	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	862			A -> S (in dbSNP:rs7873074).		calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGACCCCCGCGGCGGGGGA	0.771													G|||	2138	0.426917	0.7292	0.1383	5008	,	,		8593	0.6339		0.1541	False		,,,				2504	0.2904				p.A862S		.											.	CACNA1B-138	0			c.G2584T						.						1	1	1					9																	140917779		1024	2272	3296	SO:0001583	missense	774	exon19			ACCCCCGCGGCGG	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2584G>T	9.37:g.140917779G>T	ENSP00000360423:p.Ala862Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	871	0.39880952380952384	351	0.7134146341463414	42	0.11602209944751381	361	0.6311188811188811	117	0.15435356200527706	G	2.404	-0.336886	0.05278	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.96685	-3.87;-3.88;-4.09;-3.88;-3.86;-3.86	2.64	2.64	0.31445	.	607.713000	0.00166	N	0.000000	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P;P;P	0.41748	0.731;0.761;0.612	B;B;B	0.32149	0.071;0.141;0.081	T	0.48559	-0.9025	9	0.07813	T	0.8	.	8.5047	0.33179	0.0:0.0:1.0:0.0	rs7873074;rs57704776	862;863;862	B1AQK4;B1AQK7;B1AQK6	.;.;.	S	862;862;54;862;863;863	ENSP00000360423:A862S;ENSP00000277551:A862S;ENSP00000277549:A54S;ENSP00000360414:A862S;ENSP00000360408:A863S;ENSP00000360406:A863S	ENSP00000277549:A54S	A	+	1	0	CACNA1B	140037600	0.000000	0.05858	0.012000	0.15200	0.095000	0.18619	-0.158000	0.10070	1.290000	0.44636	0.455000	0.32223	GCG	G|0.601;T|0.399		0.771	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140917779	G	T	140917779	3	4	33	1	0	0	0	0	1	0	0	0	2546	1087	38	2	2658	2	CACNA1B	9	140917779	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	24781863	140917779	295652	59	8277											
TUBAL3	79861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	5436106	5436107	+	Missense_Mutation	DNP	CC	CC	AA													gatggaagataccacctgaaCcaccaatctattgatgctgg							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:5436106_5436107CC>AA	ENST00000380419.3	-	4	751_752	c.714_715GG>TT	c.(712-717)gtGGtt>gtTTtt	p.V239F	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V199F	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	239					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ACCACCTGAACCACCAATCTAT	0.49																																					p.V239F		.											.	TUBAL3-91	0			c.G714T						.																																			SO:0001583	missense	79861	exon4			CTGAACCACCAAT	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.714_715delinsAA	10.37:g.5436106_5436107delinsAA	ENSP00000369784:p.Val239Phe	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	354	16	NM_024803	0	0	0	0	0	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	DNP	ENST00000380419.3	37	CCDS7066.2																																																																																			.		0.49	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		AA	5436107	CC	AA	5436106	3	1	33	1	0	0	0	0	1	0	0	0	16800	507	18	3	629	3	TUBAL3	10	5436106	Missense_Mutation	DNP	CC	TCGA-OR-A5KP-01A-11D-A30A-10		5436106	130098641	60	8278											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70406351	70406351	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattctcaggtacagttaAcggtgaatgccaatcagaaa	8	7	2	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:70406351A>C	ENST00000373644.4	+	4	4074	c.3865A>C	c.(3865-3867)Acg>Ccg	p.T1289P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1289					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTACAGTTAACGGTGAATGC	0.453																																					p.T1289P		.											.	TET1-663	0			c.A3865C						.						113	100	104					10																	70406351		2203	4300	6503	SO:0001583	missense	80312	exon4			CAGTTAACGGTGA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3865A>C	10.37:g.70406351A>C	ENSP00000362748:p.Thr1289Pro	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	165	36	NM_030625	0	0	0	0	0	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226547	0.39300	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.25	-3.27	0.05048	.	2.095880	0.01933	N	0.041344	T	0.10208	0.0250	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.32428	-0.9907	10	0.20519	T	0.43	.	5.2025	0.15273	0.3847:0.0:0.3846:0.2308	.	1289	Q8NFU7	TET1_HUMAN	P	1289	ENSP00000362748:T1289P	ENSP00000362748:T1289P	T	+	1	0	TET1	70076357	0.000000	0.05858	0.001000	0.08648	0.833000	0.47200	-0.371000	0.07513	-0.222000	0.09958	0.460000	0.39030	ACG	.		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		C	70406351	A	C	70406351	3	2	33	1	0	0	0	0	1	0	0	0	15816	43	2	5	3875	5	TET1	10	70406351	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	64970245	70406351	65128396	61	8279											
HKDC1	80201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	71017117	71017117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgcagtcgtgaatgAtacagtggggaccatgatga	13	6	0	4			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:71017117A>G	ENST00000354624.5	+	14	2100	c.1967A>G	c.(1966-1968)gAt>gGt	p.D656G	HKDC1_ENST00000395086.2_Missense_Mutation_p.D656G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	656	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCGTGAATGATACAGTGGGG	0.443																																					p.D656G		.											.	HKDC1-95	0			c.A1967G						.						241	205	217					10																	71017117		2203	4300	6503	SO:0001583	missense	80201	exon14			TGAATGATACAGT		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.1967A>G	10.37:g.71017117A>G	ENSP00000346643:p.Asp656Gly	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	202	26	NM_025130	0	0	0	0	0	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.428035	0.83667	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99711	-6.49;-6.49	5.03	5.03	0.67393	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.99286	4.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.96332	0.9244	10	0.87932	D	0	-25.4651	14.913	0.70773	1.0:0.0:0.0:0.0	.	656	Q2TB90	HKDC1_HUMAN	G	656	ENSP00000346643:D656G;ENSP00000378521:D656G	ENSP00000346643:D656G	D	+	2	0	HKDC1	70687123	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.092000	0.94157	2.109000	0.64355	0.454000	0.30748	GAT	.		0.443	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		G	71017117	A	G	71017117	3	3	33	1	0	0	0	0	1	0	0	0	7220	333	12	4	2021	4	HKDC1	10	71017117	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	610766	71017117	64517630	62	8280											
BTAF1	9044	hgsc.bcm.edu	37	chr10	93726392	93726392	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttgtgtcttctttattAgtattcagcagtcactgaca	6	7	4	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:93726392A>G	ENST00000265990.6	+	14	1837		c.e14-1		BTAF1_ENST00000471217.1_Splice_Site	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTTCTTTATTAGTATTCAGCA	0.358																																					.		.											.	BTAF1-92	0			c.1530-2A>G						.						136	126	129					10																	93726392		2203	4300	6503	SO:0001630	splice_region_variant	9044	exon14			TTTATTAGTATTC	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1530-1A>G	10.37:g.93726392A>G		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_003972	0	0	0	0	0	B4E0W6|O43578	Splice_Site	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388772	0.82902	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7261	0.77761	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93716372	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.182000	0.94881	2.122000	0.65172	0.528000	0.53228	.	.		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Intron	G	93726392	A	G	93726392	5	3	33	1	0	0	0	0	0	0	1	0	1540	434	15	4	1582	4	BTAF1	10	93726392	Splice_Site	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	22709275	93726392	41808355	63	8281											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_001077494	0	0	0	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	33	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	10432804	104159196	31375551	64	8282											
SORCS3	22986	hgsc.bcm.edu;bcgsc.ca	37	chr10	106976865	106976865	+	Frame_Shift_Del	DEL	T	T	-													gctcagacacagctgtcctcTtcctgcatgtggtttgtaag							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:106976865delT	ENST00000369701.3	+	19	2946	c.2719delT	c.(2719-2721)ttcfs	p.F907fs	SORCS3_ENST00000369699.4_Frame_Shift_Del_p.F193fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	907	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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)		AGCTGTCCTCTTCCTGCATGT	0.517																																					p.F907fs	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.2719delT						.						164	130	142					10																	106976865		2203	4300	6503	SO:0001589	frameshift_variant	22986	exon19			GTCCTCTTCCTGC	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.2719delT	10.37:g.106976865delT	ENSP00000358715:p.Phe907fs	Somatic	138	2		WXS	Illumina GAIIx	Phase_I	254	57	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	37	CCDS7558.1																																																																																			.		0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		-	106976865	T	-	106976865	7	5	33	1	0	1	0	1	0	0	0	0	14977	1609	56	0	2793	0	SORCS3	10	106976865	Frame_Shift_Del	DEL	T	TCGA-OR-A5KP-01A-11D-A30A-10	2817669	106976865	28557882	65	8283											
SMC3	9126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	112341738	112341738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaagagagattacataCtctagaggaagaaaaggaag	11	4	1	5			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:112341738C>T	ENST00000361804.4	+	9	731	c.605C>T	c.(604-606)aCt>aTt	p.T202I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	202					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)		AGATTACATACTCTAGAGGAA	0.368																																					p.T202I		.											.	SMC3-92	0			c.C605T						.						99	105	103					10																	112341738		2203	4300	6503	SO:0001583	missense	9126	exon9			TACATACTCTAGA	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.605C>T	10.37:g.112341738C>T	ENSP00000354720:p.Thr202Ile	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	75	13	NM_005445	0	0	0	0	0	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953060	0.92660	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.51	5.51	0.81932	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95990	0.8985	10	0.87932	D	0	.	19.4047	0.94643	0.0:1.0:0.0:0.0	.	202	Q9UQE7	SMC3_HUMAN	I	202	ENSP00000354720:T202I	ENSP00000354720:T202I	T	+	2	0	SMC3	112331728	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.430000	0.80321	2.581000	0.87130	0.591000	0.81541	ACT	.		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112341738	C	T	112341738	3	4	33	1	0	0	0	0	1	0	0	0	14829	565	20	3	639	3	SMC3	10	112341738	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	5364873	112341738	23193009	66	8284											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219045	134219045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagcgagcacgagccCgtgtaccgggccgagctggt	18	12	0	0	rs11146364	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16	21	20		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	9	NM_001098637	0	0	0	0	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219045	C	T	134219045	2	4	33	1	0	0	0	0	0	0	0	1	12891	639	23	1		1	PWWP2B	10	134219045	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	21877307	134219045	1315702	67	8285											
KNDC1	85442	bcgsc.ca	37	chr10	135010635	135010635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcagagcttccatctGccaggtgggctagaacagcc	10	15	2	2	rs41317288	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:135010635G>A	ENST00000304613.3	+	11	1829	c.1808G>A	c.(1807-1809)tGc>tAc	p.C603Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.C603Y|KNDC1_ENST00000368571.2_Missense_Mutation_p.C538Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	603	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTTCCATCTGCCAGGTGGGC	0.667													G|||	67	0.0133786	0.0023	0.0159	5008	,	,		15352	0		0.0318	False		,,,				2504	0.0215				p.C603Y		.											.	KNDC1-229	0			c.G1808A						.	G	TYR/CYS	18,4388	26.2+/-53.5	0,18,2185	57	43	48		1808	3.9	0.2	10	dbSNP_127	48	281,8319	103.3+/-164.5	6,269,4025	yes	missense	KNDC1	NM_152643.6	194	6,287,6210	AA,AG,GG		3.2674,0.4085,2.2989	probably-damaging	603/1750	135010635	299,12707	2203	4300	6503	SO:0001583	missense	85442	exon11			CCATCTGCCAGGT	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1808G>A	10.37:g.135010635G>A	ENSP00000304437:p.Cys603Tyr	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	332	10	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	34	0.015567765567765568	2	0.0040650406504065045	8	0.022099447513812154	0	0.0	24	0.0316622691292876	G	8.784	0.929011	0.18131	0.004085	0.032674	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11604	2.76;2.76;2.76	3.89	3.89	0.44902	KIND (2);	0.532349	0.17961	N	0.156188	T	0.06962	0.0177	L	0.41236	1.265	0.19575	N	0.999961	D;D;D	0.89917	1.0;0.997;0.995	D;D;D	0.76071	0.987;0.98;0.986	T	0.07578	-1.0765	10	0.13108	T	0.6	-20.9533	12.0894	0.53717	0.0:0.0:1.0:0.0	rs41317288	603;538;603	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	603;603;538	ENSP00000304437:C603Y;ENSP00000357561:C603Y;ENSP00000357560:C538Y	ENSP00000304437:C603Y	C	+	2	0	KNDC1	134860625	0.012000	0.17670	0.182000	0.23118	0.011000	0.07611	0.954000	0.29175	2.135000	0.66039	0.467000	0.42956	TGC	G|0.981;A|0.019		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135010635	G	A	135010635	3	1	33	1	0	0	0	0	1	0	0	0	8453	1319	46	3	1850	3	KNDC1	10	135010635	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	791590	135010635	524112	68	8286											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012429	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgatcccacctggagTtgcttccgggggcctcaggc	14	14	1	1	rs386749477|rs3008390	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr10:135012429T>A	ENST00000304613.3	+	14	2438	c.2417T>A	c.(2416-2418)gTt>gAt	p.V806D	KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D|KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGG	0.746													T|||	2004	0.40016	0.1604	0.3919	5008	,	,		10760	0.5476		0.4195	False		,,,				2504	0.5583				p.V806D		.											.	KNDC1-229	0			c.T2417A						.		ASP/VAL	526,2634		71,384,1125	4	5	4		2417	-1.3	0	10	dbSNP_101	4	2723,4467		626,1471,1498	yes	missense	KNDC1	NM_152643.6	152	697,1855,2623	AA,AT,TT		37.872,16.6456,31.3913	benign	806/1750	135012429	3249,7101	1580	3595	5175	SO:0001583	missense	85442	exon14			CTGGAGTTGCTTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2417T>A	10.37:g.135012429T>A	ENSP00000304437:p.Val806Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	884	0.40476190476190477	86	0.17479674796747968	139	0.3839779005524862	333	0.5821678321678322	326	0.43007915567282323	T	4.682	0.126733	0.08931	0.166456	0.37872	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18174	2.82;2.82;2.23	3.43	-1.31	0.09230	.	1.661170	0.03733	N	0.253684	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	P;P;B	0.45827	0.867;0.531;0.244	B;B;B	0.41271	0.352;0.107;0.05	T	0.45614	-0.9249	9	0.12103	T	0.63	.	3.9153	0.09220	0.0:0.3422:0.3942:0.2636	rs3008390;rs61587518	806;741;806	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	D	806;806;741	ENSP00000304437:V806D;ENSP00000357561:V806D;ENSP00000357560:V741D	ENSP00000304437:V806D	V	+	2	0	KNDC1	134862419	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.817000	0.27281	-0.241000	0.09681	0.255000	0.18592	GTT	T|0.406;A|0.594		0.746	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135012429	T	A	135012429	3	1	33	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	1794	135012429	522318	69	8287											
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	23	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	33	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		1858572	133147944	70	8288											
PRKCDBP	112464	hgsc.bcm.edu	37	chr11	6341365	6341365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgcgcgccaccagcagCccgtggttggcctccagccg	12	19	0	0	rs11544764	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:6341365C>T	ENST00000303927.3	-	1	512	c.342G>A	c.(340-342)ggG>ggA	p.G114G	PRKCDBP_ENST00000530979.1_Silent_p.G114G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	114					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACCAGCAGCCCGTGGTTGG	0.706													C|||	433	0.0864617	0.0416	0.0951	5008	,	,		13993	0.1438		0.1064	False		,,,				2504	0.0613				p.G114G		.											.	PRKCDBP-115	0			c.G342A						.	C		206,4012		7,192,1910	8	8	8		342	2.4	1	11	dbSNP_120	8	902,7436		53,796,3320	no	coding-synonymous	PRKCDBP	NM_145040.2		60,988,5230	TT,TC,CC		10.8179,4.8838,8.8245		114/262	6341365	1108,11448	2109	4169	6278	SO:0001819	synonymous_variant	112464	exon1			CAGCAGCCCGTGG	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.342G>A	11.37:g.6341365C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_145040	0	0	0	0	0		Silent	SNP	ENST00000303927.3	37	CCDS7762.1																																																																																			C|0.902;T|0.098		0.706	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		T	6341365	C	T	6341365	2	4	33	1	0	0	0	0	0	0	0	1	12552	726	26	3		3	PRKCDBP	11	6341365	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	4482793	6341365	128665151	71	8289											
OR10A4	283297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	6898684	6898684	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accccaatccagtgcctcttCtgagagcaagaagctgctgt	9	13	2	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:6898684C>G	ENST00000379829.2	+	1	829	c.806C>G	c.(805-807)tCt>tGt	p.S269C		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	269					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S269Y(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGCCTCTTCTGAGAGCAAG	0.512																																					p.S269C		.											.	OR10A4-69	1	Substitution - Missense(1)	lung(1)	c.C806G						.						152	133	140					11																	6898684		2201	4296	6497	SO:0001583	missense	283297	exon1			CCTCTTCTGAGAG	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.806C>G	11.37:g.6898684C>G	ENSP00000369157:p.Ser269Cys	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	89	19	NM_207186	0	0	0	0	0	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	c	11.90	1.776025	0.31411	.	.	ENSG00000170782	ENST00000379829	T	0.00174	8.62	4.22	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000441	T	0.00356	0.0011	M	0.72118	2.19	0.19775	N	0.999958	P	0.39376	0.67	P	0.54544	0.755	T	0.26883	-1.0090	10	0.72032	D	0.01	.	4.59	0.12302	0.0:0.6213:0.1826:0.196	.	269	Q9H209	O10A4_HUMAN	C	269	ENSP00000369157:S269C	ENSP00000369157:S269C	S	+	2	0	OR10A4	6855260	0.000000	0.05858	0.998000	0.56505	0.558000	0.35554	0.093000	0.15086	0.715000	0.32103	0.651000	0.88453	TCT	.		0.512	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		G	6898684	C	G	6898684	3	3	33	1	0	0	0	0	1	0	0	0	10931	913	32	3	808	3	OR10A4	11	6898684	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	557319	6898684	128107832	72	8290											
MRGPRX4	117196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18195200	18195200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatctggtaccgctgcCgccgccccacacacctgtca	9	20	2	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:18195200C>T	ENST00000314254.3	+	1	817	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTACCGCTGCCGCCGCCCCAC	0.582																																					p.R133C		.											.	MRGPRX4-91	0			c.C397T						.						150	145	147					11																	18195200		2199	4293	6492	SO:0001583	missense	117196	exon1			CGCTGCCGCCGCC	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.397C>T	11.37:g.18195200C>T	ENSP00000314042:p.Arg133Cys	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	146	28	NM_054032	0	0	0	0	0	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519642	0.27211	.	.	ENSG00000179817	ENST00000314254	T	0.08370	3.1	2.86	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.860927	0.10112	N	0.714573	T	0.08670	0.0215	M	0.64404	1.975	0.09310	N	1	B	0.34181	0.44	B	0.27715	0.082	T	0.31752	-0.9932	10	0.72032	D	0.01	.	4.1956	0.10441	0.0:0.6143:0.2451:0.1406	.	133	Q96LA9	MRGX4_HUMAN	C	133	ENSP00000314042:R133C	ENSP00000314042:R133C	R	+	1	0	MRGPRX4	18151776	0.000000	0.05858	0.688000	0.30117	0.168000	0.22595	0.142000	0.16096	0.525000	0.28522	0.436000	0.28706	CGC	.		0.582	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		T	18195200	C	T	18195200	3	4	33	1	0	0	0	0	1	0	0	0	9807	652	23	1	399	1	MRGPRX4	11	18195200	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	11296516	18195200	116811316	73	8291											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	33	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	47615009	65810209	69196307	74	8292											
PPP1CA	5499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	67166486	67166487	+	Frame_Shift_Del	DEL	AG	AG	-													acctcggctccaaaggtaaaAgagacgccacggtcgttctc							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:67166486_67166487delAG	ENST00000376745.4	-	5	819_820	c.671_672delCT	c.(670-672)tctfs	p.S224fs	PPP1CA_ENST00000358239.4_Frame_Shift_Del_p.S180fs|PPP1CA_ENST00000312989.7_Frame_Shift_Del_p.S235fs|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	224					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAAAGGTAAAAGAGACGCCACG	0.644																																					p.235_235del		.											.	PPP1CA-659	0			c.704_705del						.																																			SO:0001589	frameshift_variant	5499	exon5			GGTAAAAGAGACG		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.671_672delCT	11.37:g.67166488_67166489delAG	ENSP00000365936:p.Ser224fs	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	108	25	NM_001008709	0	0	0	0	0	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Frame_Shift_Del	DEL	ENST00000376745.4	37	CCDS8160.1																																																																																			.		0.644	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		-	67166487	AG	-	67166486	7	5	33	1	0	1	0	1	0	0	0	0	12391	59	3	0	332	0	PPP1CA	11	67166486	Frame_Shift_Del	DEL	AG	TCGA-OR-A5KP-01A-11D-A30A-10	1356277	67166486	67840030	75	8293											
CCDC81	60494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	86086270	86086270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgctgcccactctgccctCgctgagccaggagggtaagc	14	14	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:86086270C>T	ENST00000445632.2	+	1	337	c.65C>T	c.(64-66)tCg>tTg	p.S22L	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.S22L	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	22										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACTCTGCCCTCGCTGAGCCAG	0.607																																					p.S22L		.											.	CCDC81-91	0			c.C65T						.						100	103	102					11																	86086270		2202	4299	6501	SO:0001583	missense	60494	exon1			TGCCCTCGCTGAG	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.65C>T	11.37:g.86086270C>T	ENSP00000415528:p.Ser22Leu	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	37	11	NM_021827	0	0	0	0	0	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108483	0.56291	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T	0.45276	0.93;0.9	3.81	-0.673	0.11373	.	1.801380	0.02896	N	0.134776	T	0.35038	0.0918	L	0.40543	1.245	0.20196	N	0.999926	B;B	0.33940	0.067;0.433	B;B	0.37692	0.01;0.256	T	0.15838	-1.0423	9	.	.	.	0.4977	3.5681	0.07907	0.0:0.4297:0.1931:0.3772	.	22;22	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	L	22	ENSP00000346800:S22L;ENSP00000415528:S22L	.	S	+	2	0	CCDC81	85763918	0.572000	0.26668	0.205000	0.23548	0.935000	0.57460	0.965000	0.29319	-0.103000	0.12175	0.655000	0.94253	TCG	.		0.607	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		T	86086270	C	T	86086270	3	4	33	1	0	0	0	0	1	0	0	0	2862	893	31	1	67	1	CCDC81	11	86086270	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	18919784	86086270	48920246	76	8294											
ATM	472	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	108123627	108123627	+	Frame_Shift_Del	DEL	G	G	-													tgcaatgaattttttccaaaGcgtgccagaatggtatgtta							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr11:108123627delG	ENST00000452508.2	+	13	2075	c.1886delG	c.(1885-1887)agcfs	p.S629fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.S629fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	629					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)	TTTTTCCAAAGCGTGCCAGAA	0.313			"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.S629fs		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM-3419	0			c.1886delG						.						90	84	86					11																	108123627		2201	4295	6496	SO:0001589	frameshift_variant	472	exon12	Familial Cancer Database	AT, Louis-Bar syndrome	TCCAAAGCGTGCC	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.1886delG	11.37:g.108123627delG	ENSP00000388058:p.Ser629fs	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	48	17	NM_000051	0	0	0	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																			.		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108123627	G	-	108123627	7	5	33	1	0	1	0	1	0	0	0	0	1110	971	34	0	1928	0	ATM	11	108123627	Frame_Shift_Del	DEL	G	TCGA-OR-A5KP-01A-11D-A30A-10	22037357	108123627	26882889	77	8295											
BHLHE41	79365	hgsc.bcm.edu	37	chr12	26275827	26275827	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggggctccagcttctgcccCgcgcgctccaggcagggggc	16	16	1	0	rs61754129	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:26275827C>G	ENST00000242728.4	-	5	968	c.621G>C	c.(619-621)gcG>gcC	p.A207A	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	207					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GCTTCTGCCCCGCGCGCTCCA	0.731													C|||	14	0.00279553	0	0.0029	5008	,	,		9372	0		0.007	False		,,,				2504	0.0051				p.A207A		.											.	BHLHE41-226	0			c.G621C						.	C		3,3713		0,3,1855	4	5	5		621	1.1	0	12	dbSNP_129	5	33,7609		0,33,3788	no	coding-synonymous	BHLHE41	NM_030762.2		0,36,5643	GG,GC,CC		0.4318,0.0807,0.317		207/483	26275827	36,11322	1858	3821	5679	SO:0001819	synonymous_variant	79365	exon5			CTGCCCCGCGCGC	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"Basic helix-loop-helix proteins"	16617	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 2", "Enhancer-of-split and hairy-related protein 1"	606200	"basic helix-loop-helix domain containing, class B, 3"	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.621G>C	12.37:g.26275827C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	12	NM_030762	0	0	0	0	0	A2I2N8	Silent	SNP	ENST00000242728.4	37	CCDS8706.1																																																																																			.		0.731	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		G	26275827	C	G	26275827	2	3	33	1	0	0	0	0	0	0	0	1	1426	639	23	2		2	BHLHE41	12	26275827	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		26275827	107576068	78	8296											
ITPR2	3709	ucsc.edu;bcgsc.ca	37	chr12	26732987	26732987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactattgtctgaaaaGggagaattaaagaagccgct	11	6	1	3	rs2230376	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:26732987G>A	ENST00000381340.3	-	33	4898	c.4482C>T	c.(4480-4482)ccC>ccT	p.P1494P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1494					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)	TGTCTGAAAAGGGAGAATTAA	0.363													G|||	935	0.186701	0.0923	0.2248	5008	,	,		16444	0.0744		0.332	False		,,,				2504	0.2536				p.P1494P		.											.	ITPR2-542	0			c.C4482T						.	G		475,3141		30,415,1363	116	104	108		4482	-10.1	0	12	dbSNP_98	108	2587,5565		428,1731,1917	no	coding-synonymous	ITPR2	NM_002223.2		458,2146,3280	AA,AG,GG		31.7345,13.1361,26.0197		1494/2702	26732987	3062,8706	1808	4076	5884	SO:0001819	synonymous_variant	3709	exon33			TGAAAAGGGAGAA	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.4482C>T	12.37:g.26732987G>A		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	25	4	NM_002223	0	0	0	0	0	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																			G|0.794;A|0.206		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26732987	G	A	26732987	2	1	33	1	0	0	0	0	0	0	0	1	7948	987	35	3		3	ITPR2	12	26732987	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	457160	26732987	107118908	79	8297											
KRT78	196374	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53233007	53233007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggaatccaaaacagggtCcttcccagagcccagaatga	10	12	0	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:53233007C>T	ENST00000304620.4	-	9	1516	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	KRT78_ENST00000359499.4_Missense_Mutation_p.D375N	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	485	Ser-rich.|Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAACAGGGTCCTTCCCAGAG	0.572																																					p.D485N		.											.	KRT78-188	0			c.G1453A						.						75	69	71					12																	53233007		2203	4300	6503	SO:0001583	missense	196374	exon9			CAGGGTCCTTCCC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1453G>A	12.37:g.53233007C>T	ENSP00000306261:p.Asp485Asn	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	214	38	NM_173352	0	0	0	0	0	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271408	0.23221	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	T;T	0.81415	-0.98;-1.49	4.49	1.56	0.23342	.	0.523497	0.14336	N	0.326046	T	0.57740	0.2074	N	0.14661	0.345	0.09310	N	1	B	0.25105	0.118	B	0.17433	0.018	T	0.38394	-0.9663	10	0.17832	T	0.49	.	3.487	0.07624	0.2:0.5817:0.0:0.2183	.	485	Q8N1N4	K2C78_HUMAN	N	375;485;256	ENSP00000352479:D375N;ENSP00000306261:D485N	ENSP00000306261:D485N	D	-	1	0	KRT78	51519274	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.401000	0.07232	0.219000	0.20840	0.563000	0.77884	GAC	.		0.572	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		T	53233007	C	T	53233007	3	4	33	1	0	0	0	0	1	0	0	0	8518	855	30	3	113	3	KRT78	12	53233007	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	26500020	53233007	80618888	80	8298											
AMHR2	269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	53822782	53822782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatttctccatgaggagCgctggcagaatggtgggtga	16	7	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:53822782C>T	ENST00000257863.4	+	7	1035	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AMHR2_ENST00000550311.1_Missense_Mutation_p.R319C|AMHR2_ENST00000379791.3_Missense_Mutation_p.R319C	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs144236183). {ECO:0000269|Ref.4}.		Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCATGAGGAGCGCTGGCAGAA	0.562																																					p.R319C		.											.	AMHR2-628	0			c.C955T						.						32	26	28					12																	53822782		2041	3876	5917	SO:0001583	missense	269	exon7			GAGGAGCGCTGGC	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.955C>T	12.37:g.53822782C>T	ENSP00000257863:p.Arg319Cys	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	51	10	NM_020547	0	0	0	0	0	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911793	0.72983	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.93019	-3.15;-3.15;-3.15	4.61	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38272	N	0.001748	D	0.91891	0.7433	L	0.32530	0.975	0.44515	D	0.997464	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	D	0.91061	0.4885	10	0.87932	D	0	.	7.9789	0.30172	0.0:0.8909:0.0:0.1091	.	319;319	F8W1D2;Q16671	.;AMHR2_HUMAN	C	319	ENSP00000257863:R319C;ENSP00000446661:R319C;ENSP00000369117:R319C	ENSP00000257863:R319C	R	+	1	0	AMHR2	52109049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.951000	0.29135	2.570000	0.86706	0.563000	0.77884	CGC	.		0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		T	53822782	C	T	53822782	3	4	33	1	0	0	0	0	1	0	0	0	573	768	27	1	981	1	AMHR2	12	53822782	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	589775	53822782	80029113	81	8299											
LRIG3	121227	broad.mit.edu	37	chr12	59284579	59284579	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacaatcctgtttccagccCtagaattaaaagaaaccaca	4	12	0	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:59284579C>A	ENST00000320743.3	-	4	670		c.e4-1		LRIG3_ENST00000379141.4_Splice_Site	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3						otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTTCCAGCCCTAGAATTAAA	0.368			T	ROS1	NSCLC																																.		.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	LRIG3-229	0			c.384-1G>T						.						56	56	56					12																	59284579		2203	4300	6503	SO:0001630	splice_region_variant	121227	exon5			CCAGCCCTAGAAT	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.384-1G>T	12.37:g.59284579C>A		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	31	3	NM_153377	0	0	0	0	0	Q6UXL7|Q8NC72	Splice_Site	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448040	0.84101	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRIG3	57570846	1.000000	0.71417	0.994000	0.49952	0.905000	0.53344	7.413000	0.80104	2.941000	0.99782	0.655000	0.94253	.	.		0.368	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	Intron	A	59284579	C	A	59284579	5	1	33	1	0	0	0	0	0	0	1	0	8981	695	24	3	3040	3	LRIG3	12	59284579	Splice_Site	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	5461797	59284579	74567316	82	8300											
LRIG3	121227	hgsc.bcm.edu	37	chr12	59313936	59313936	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcgaccgccgctgtcTgaccggccagcgcgccccag	12	21	1	1	rs61754220	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:59313936T>G	ENST00000320743.3	-	1	367	c.81A>C	c.(79-81)tcA>tcC	p.S27S	LRIG3_ENST00000379141.4_5'Flank|RP11-150C16.1_ENST00000547590.1_RNA	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	27					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CGCCGCTGTCTGACCGGCCAG	0.761			T	ROS1	NSCLC								G|||	401	0.0800719	0.0401	0.1686	5008	,	,		9411	0.0446		0.0994	False		,,,				2504	0.0879				p.S27S		.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	LRIG3-229	0			c.A81C						.						2	3	2					12																	59313936		1269	2781	4050	SO:0001819	synonymous_variant	121227	exon1			GCTGTCTGACCGG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.81A>C	12.37:g.59313936T>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	23	10	NM_153377	0	0	0	0	0	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																			T|0.908;G|0.092		0.761	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59313936	T	G	59313936	2	3	33	1	0	0	0	0	0	0	0	1	8981	1567	55	5		5	LRIG3	12	59313936	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	29357	59313936	74537959	83	8301											
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	78583826	78583826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattcctaaaccaattaccCaaaggtactttaacttgttg	5	9	0	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:78583826C>A	ENST00000397909.2	+	34	6291	c.6118C>A	c.(6118-6120)Caa>Aaa	p.Q2040K	NAV3_ENST00000266692.7_Missense_Mutation_p.Q1841K|NAV3_ENST00000536525.2_Missense_Mutation_p.Q2018K|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.Q2018K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2040						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						ACCAATTACCCAAAGGTACTT	0.353										HNSCC(70;0.22)																											p.Q2018K		.											.	NAV3-279	0			c.C6052A						.						106	98	101					12																	78583826		1918	4153	6071	SO:0001583	missense	89795	exon33			ATTACCCAAAGGT	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.6118C>A	12.37:g.78583826C>A	ENSP00000381007:p.Gln2040Lys	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	99	8	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.329643|5.329643	0.95733|0.95733	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27;-2.27	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.38663	.|U	.|0.001611	D|D	0.93523|0.93523	0.7933|0.7933	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.999;0.954;0.997;0.989	.|D;D;D;D	.|0.76575	.|0.988;0.932;0.977;0.969	D|D	0.94123|0.94123	0.7381|0.7381	5|10	.|0.72032	.|D	.|0.01	-7.6278|-7.6278	18.7239|18.7239	0.91705|0.91705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2018;1841;2040;2018	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	Q|K	912|2018;2040;2018;1841;632;640	.|ENSP00000446132:Q2018K;ENSP00000381007:Q2040K;ENSP00000228327:Q2018K;ENSP00000266692:Q1841K;ENSP00000448303:Q640K	.|ENSP00000228327:Q2018K	P|Q	+|+	2|1	0|0	NAV3|NAV3	77107957|77107957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.720000|7.720000	0.84759|0.84759	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CCA|CAA	.		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78583826	C	A	78583826	3	1	33	1	0	0	0	0	1	0	0	0	10223	595	21	3	6182	3	NAV3	12	78583826	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	19269890	78583826	55268069	84	8302											
NEDD1	121441	broad.mit.edu;bcgsc.ca	37	chr12	97338562	97338562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaacccccaatcaatggatCctcaactccaagtaagtaca	5	13	2	1	rs144294186		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:97338562C>T	ENST00000266742.4	+	13	1982	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	NEDD1_ENST00000457368.2_Missense_Mutation_p.S459F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S555F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S459F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S548F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	548					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATCAATGGATCCTCAACTCCA	0.353																																					p.S555F		.											.	NEDD1-90	0			c.C1664T						.																																			SO:0001583	missense	121441	exon12			ATGGATCCTCAAC		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1643C>T	12.37:g.97338562C>T	ENSP00000266742:p.Ser548Phe	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	206	9	NM_001135175	0	0	0	0	0	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610374	0.46527	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.50548	0.75;0.75;1.54;0.74;1.54	5.57	5.57	0.84162	.	0.264721	0.44097	D	0.000486	T	0.46268	0.1384	L	0.29908	0.895	0.42298	D	0.992164	P;B	0.36315	0.547;0.412	B;B	0.41088	0.347;0.121	T	0.48864	-0.8997	10	0.72032	D	0.01	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	555;548	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	F	548;548;459;555;459	ENSP00000266742:S548F;ENSP00000404978:S548F;ENSP00000411307:S459F;ENSP00000451211:S555F;ENSP00000407964:S459F	ENSP00000266742:S548F	S	+	2	0	NEDD1	95862693	1.000000	0.71417	0.984000	0.44739	0.524000	0.34500	2.693000	0.47027	2.780000	0.95670	0.655000	0.94253	TCC	C|1.000;T|0.000		0.353	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			T	97338562	C	T	97338562	3	4	33	1	0	0	0	0	1	0	0	0	10348	855	30	3	1710	3	NEDD1	12	97338562	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	18754736	97338562	36513333	85	8303											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000392549.2_Silent_p.H115H|RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	21	9	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	33	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	19849345	117187907	16663988	86	8304											
ATP6V0A2	23545	hgsc.bcm.edu;broad.mit.edu	37	chr12	124232193	124232196	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													atcgcctcacttttctaaacTctttcaaaatgaaaatgtcc							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	TCTT	TCTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:124232193_124232196delTCTT	ENST00000330342.3	+	14	1893_1896	c.1645_1648delTCTT	c.(1645-1650)tctttcfs	p.SF549fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	549					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTTTCTAAACTCTTTCAAAATGAA	0.338																																					p.549_550del		.											.	ATP6V0A2-92	0			c.1645_1648del						.																																			SO:0001589	frameshift_variant	23545	exon14			CTAAACTCTTTCA	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1645_1648delTCTT	12.37:g.124232193_124232196delTCTT	ENSP00000332247:p.Ser549fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	100	9	NM_012463	0	0	0	0	0	A8K026|Q6NUM0	Frame_Shift_Del	DEL	ENST00000330342.3	37	CCDS9254.1																																																																																			.		0.338	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		-	124232196	TCTT	-	124232193	7	5	33	1	0	1	0	1	0	0	0	0	1170	1551	54	0	1699	0	ATP6V0A2	12	124232193	Frame_Shift_Del	DEL	TCTT	TCGA-OR-A5KP-01A-11D-A30A-10	7044286	124232193	9619702	87	8305											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000535703.1_Silent_p.P565P|RIMBP2_ENST00000536002.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	60	23	NM_015347	0	0	0	0	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	33	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	6689278	130921471	2930424	88	8306											
ZMYM2	7750	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	20641036	20641036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataccagtctcatgatgatAgttctgacaattcagaatgc	8	8	3	4			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr13:20641036A>G	ENST00000382874.2	+	21	3368	c.3178A>G	c.(3178-3180)Agt>Ggt	p.S1060G	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.S1060G|ZMYM2_ENST00000382869.3_Missense_Mutation_p.S1060G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCATGATGATAGTTCTGACAA	0.353																																					p.S1060G		.											.	ZMYM2-685	0			c.A3178G						.						116	107	110					13																	20641036		1852	4096	5948	SO:0001583	missense	7750	exon21			GATGATAGTTCTG	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3178A>G	13.37:g.20641036A>G	ENSP00000372327:p.Ser1060Gly	Somatic	79	1		WXS	Illumina GAIIx	Phase_I	59	17	NM_001190964	0	0	0	0	0	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042166	0.35989	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.20200	2.09	5.06	5.06	0.68205	.	0.327366	0.34879	N	0.003617	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	P	0.47762	0.9	B	0.35413	0.202	T	0.27673	-1.0067	10	0.22109	T	0.4	-17.483	9.3635	0.38210	0.9199:0.0:0.0801:0.0	.	1060	Q9UBW7	ZMYM2_HUMAN	G	1060;1060;1058;1058;438	ENSP00000372322:S1060G	ENSP00000372322:S1060G	S	+	1	0	ZMYM2	19539036	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.255000	0.65462	1.909000	0.55274	0.374000	0.22700	AGT	.		0.353	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20641036	A	G	20641036	3	3	33	1	0	0	0	0	1	0	0	0	17748	420	15	4	3248	4	ZMYM2	13	20641036	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10		20641036	94528842	89	8307											
MIPEP	4285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	24304549	24304549	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaaacgagggcacttaCgaagtcatcaacagaaggac	12	9	2	1	rs537985967		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr13:24304549C>G	ENST00000382172.3	-	19	2178	c.2080G>C	c.(2080-2082)Gta>Cta	p.V694L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	694					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGGGCACTTACGAAGTCATCA	0.438																																					p.V694L		.											.	MIPEP-90	0			c.G2080C						.						100	85	90					13																	24304549		2203	4300	6503	SO:0001583	missense	4285	exon19			CACTTACGAAGTC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.2080G>C	13.37:g.24304549C>G	ENSP00000371607:p.Val694Leu	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	86	14	NM_005932	0	0	0	0	0	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981896	0.74474	.	.	ENSG00000027001	ENST00000382172	T	0.05025	3.51	5.42	5.42	0.78866	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.53729	1.69	0.49299	D	0.999771	B	0.26744	0.158	B	0.43867	0.434	T	0.04796	-1.0926	10	0.02654	T	1	.	17.9931	0.89175	0.0:1.0:0.0:0.0	.	694	Q99797	MIPEP_HUMAN	L	694	ENSP00000371607:V694L	ENSP00000371607:V694L	V	-	1	0	MIPEP	23202549	1.000000	0.71417	0.685000	0.30070	0.804000	0.45430	6.116000	0.71571	2.541000	0.85698	0.655000	0.94253	GTA	.		0.438	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			G	24304549	C	G	24304549	3	3	33	1	0	0	0	0	1	0	0	0	9630	536	19	2	65	2	MIPEP	13	24304549	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	3663513	24304549	90865329	90	8308											
FOXG1	2290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	29237445	29237445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccctgcaccacccccgCgccagcagcactttgagtta	8	18	0	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr14:29237445C>T	ENST00000313071.4	+	1	1159	c.960C>T	c.(958-960)cgC>cgT	p.R320R	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.R320R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	320				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACCCCCGCGCCAGCAGCA	0.667																																					p.R320R		.											.	FOXG1-660	0			c.C960T						.						78	87	84					14																	29237445		2203	4300	6503	SO:0001819	synonymous_variant	2290	exon1			CCCCCGCGCCAGC		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.960C>T	14.37:g.29237445C>T		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	109	7	NM_005249	0	0	0	0	0	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	CCDS9636.1																																																																																			.		0.667	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			T	29237445	C	T	29237445	2	4	33	1	0	0	0	0	0	0	0	1	6031	755	27	1		1	FOXG1	14	29237445	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		29237445	78112095	91	8309											
PAPLN	89932	broad.mit.edu;bcgsc.ca	37	chr14	73711367	73711367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggctcccaaggtgaggCggcagagtgacacctgggga	17	10	0	3	rs377339624		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr14:73711367C>A	ENST00000554301.1	+	2	233	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	RNU6-419P_ENST00000517030.1_RNA|PAPLN_ENST00000427855.1_Silent_p.R24R|PAPLN_ENST00000555445.1_Silent_p.R24R|PAPLN_ENST00000340738.5_Silent_p.R24R|PAPLN_ENST00000381166.3_Silent_p.R24R|RP4-647C14.2_ENST00000554614.1_RNA			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	24						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAAGGTGAGGCGGCAGAGTGA	0.647																																					p.R24R		.											.	PAPLN-70	0			c.C70A						.						16	14	15					14																	73711367		2184	4289	6473	SO:0001819	synonymous_variant	89932	exon3			GTGAGGCGGCAGA	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.70C>A	14.37:g.73711367C>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	120	5	NM_173462	0	0	0	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																				.		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		A	73711367	C	A	73711367	2	1	33	1	0	0	0	0	0	0	0	1	11467	759	27	2		2	PAPLN	14	73711367	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	44473922	73711367	33638173	92	8310											
LGMN	5641	bcgsc.ca	37	chr14	93170993	93170993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattagttacctgtgaagCggatacggcttctcacaaag	10	9	1	1	rs9791	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr14:93170993C>T	ENST00000393218.2	-	14	1588	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Silent_p.P417P|LGMN_ENST00000557434.1_Silent_p.P360P	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	417					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACCTGTGAAGCGGATACGGCT	0.473													C|||	1412	0.281949	0.2678	0.5519	5008	,	,		20858	0.0754		0.4245	False		,,,				2504	0.1759				p.P417P		.											.	LGMN-91	0			c.G1251A						.	C	,	1264,3142	432.6+/-343.3	185,894,1124	188	179	182		1251,1251	-10	0	14	dbSNP_52	182	3540,5060	514.7+/-378.4	722,2096,1482	no	coding-synonymous,coding-synonymous	LGMN	NM_001008530.2,NM_005606.6	,	907,2990,2606	TT,TC,CC		41.1628,28.6882,36.9368	,	417/434,417/434	93170993	4804,8202	2203	4300	6503	SO:0001819	synonymous_variant	5641	exon13			GTGAAGCGGATAC	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1251G>A	14.37:g.93170993C>T		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	216	9	NM_005606	0	0	0	0	0	O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	CCDS9904.1																																																																																			C|0.681;T|0.319		0.473	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		T	93170993	C	T	93170993	2	4	33	1	0	0	0	0	0	0	0	1	8784	755	27	1		1	LGMN	14	93170993	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	19459626	93170993	14178547	93	8311											
AHNAK2	113146	broad.mit.edu	37	chr14	105412335	105412335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagacaccccgaacgaCggcatcttgaacttgggcat	13	12	1	2	rs202104959	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr14:105412335C>T	ENST00000333244.5	-	7	9572	c.9453G>A	c.(9451-9453)ccG>ccA	p.P3151P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P3151P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCGAACGACGGCATCTTGA	0.602																																					p.P3151P		.											.	AHNAK2-47	1	Substitution - coding silent(1)	endometrium(1)	c.G9453A						.						198	138	157					14																	105412335		1921	4005	5926	SO:0001819	synonymous_variant	113146	exon7			GAACGACGGCATC	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.9453G>A	14.37:g.105412335C>T		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	20	6	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			C|0.963;T|0.037		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105412335	C	T	105412335	2	4	33	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105412335	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	12241342	105412335	1937205	94	8312											
UBE3A	7337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	25616489	25616489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaaattcagataattagGatctcgagagtatacattgt	8	5	2	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr15:25616489G>A	ENST00000397954.2	-	4	840	c.841C>T	c.(841-843)Cct>Tct	p.P281S	UBE3A_ENST00000566215.1_Missense_Mutation_p.P258S|UBE3A_ENST00000428984.2_Missense_Mutation_p.P258S|UBE3A_ENST00000232165.3_Missense_Mutation_p.P278S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.P258S			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	281					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)		AGATAATTAGGATCTCGAGAG	0.358																																					p.P281S		.											.	UBE3A-660	0			c.C841T						.						63	61	62					15																	25616489		2203	4300	6503	SO:0001583	missense	7337	exon7			AATTAGGATCTCG	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.841C>T	15.37:g.25616489G>A	ENSP00000381045:p.Pro281Ser	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	77	7	NM_000462	0	0	0	0	0	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962910	0.34659	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.18338	2.22;2.22;2.23;2.23	5.84	4.92	0.64577	.	0.046390	0.85682	D	0.000000	T	0.20007	0.0481	L	0.61218	1.895	0.80722	D	1	B;B	0.30068	0.267;0.006	B;B	0.25987	0.065;0.008	T	0.02646	-1.1129	10	0.20519	T	0.43	.	16.9694	0.86295	0.0:0.1276:0.8724:0.0	.	278;281	Q05086-3;Q05086	.;UBE3A_HUMAN	S	278;278;281;258;258	ENSP00000232165:P278S;ENSP00000381045:P281S;ENSP00000411258:P258S;ENSP00000401265:P258S	ENSP00000232165:P278S	P	-	1	0	UBE3A	23167582	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.991000	0.88244	1.458000	0.47871	0.591000	0.81541	CCT	.		0.358	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		A	25616489	G	A	25616489	3	1	33	1	0	0	0	0	1	0	0	0	16928	1174	41	3	1818	3	UBE3A	15	25616489	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		25616489	76914903	95	8313											
AQR	9716	broad.mit.edu	37	chr15	35176926	35176926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgatatactcttcccagcGagacattacctgtagaaaaa	7	10	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr15:35176926G>T	ENST00000156471.5	-	26	3052	c.2827C>A	c.(2827-2829)Cgc>Agc	p.R943S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	943					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)		TCTTCCCAGCGAGACATTACC	0.338																																					p.R943S		.											.	AQR-135	0			c.C2827A						.						87	82	83					15																	35176926		1833	4084	5917	SO:0001583	missense	9716	exon26			CCCAGCGAGACAT	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.2827C>A	15.37:g.35176926G>T	ENSP00000156471:p.Arg943Ser	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	48	3	NM_014691	0	0	0	0	0	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096761	0.94197	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94576	-3.46	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96771	0.9568	10	0.35671	T	0.21	-16.4595	20.0586	0.97663	0.0:0.0:1.0:0.0	.	943	O60306	AQR_HUMAN	S	943	ENSP00000156471:R943S	ENSP00000156471:R943S	R	-	1	0	AQR	32964218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.729000	0.98795	2.741000	0.93983	0.650000	0.86243	CGC	.		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35176926	G	T	35176926	3	4	33	1	0	0	0	0	1	0	0	0	835	1058	37	2	1670	2	AQR	15	35176926	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	9560437	35176926	67354466	96	8314											
CALML4	91860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	68491886	68491886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccactcacctatcccGtgggtctgcaggtgccgctg	10	17	2	0	rs200702934	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr15:68491886G>A	ENST00000467889.1	-	3	481	c.297C>T	c.(295-297)caC>caT	p.H99H	CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_Intron|CALML4_ENST00000540479.1_Silent_p.H23H|RP11-315D16.2_ENST00000562767.1_Intron	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	99	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CACCTATCCCGTGGGTCTGCA	0.642													G|||	2	0.000399361	0	0.0014	5008	,	,		18239	0		0.001	False		,,,				2504	0				p.H99H		.											.	CALML4-90	0			c.C297T						.	G	,	2,3926		0,2,1962	67	74	72		,297	-0.6	0.1	15		72	18,8282		0,18,4132	yes	intron,coding-synonymous	CALML4	NM_001031733.2,NM_033429.2	,	0,20,6094	AA,AG,GG		0.2169,0.0509,0.1636	,	,99/197	68491886	20,12208	1964	4150	6114	SO:0001819	synonymous_variant	91860	exon3			TATCCCGTGGGTC	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.297C>T	15.37:g.68491886G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	54	5	NM_033429	0	0	0	0	0	B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Silent	SNP	ENST00000467889.1	37	CCDS10226.2																																																																																			G|0.998;A|0.002		0.642	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		A	68491886	G	A	68491886	2	1	33	1	0	0	0	0	0	0	0	1	2595	1136	40	1		1	CALML4	15	68491886	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	33314960	68491886	34039506	97	8315											
FBXO22	26263	broad.mit.edu	37	chr15	76225142	76225142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaagactgctgaggCtgcgatgcagcgcctcaaag	14	9	1	4			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr15:76225142C>A	ENST00000308275.3	+	7	1016	c.911C>A	c.(910-912)gCt>gAt	p.A304D	FBXO22_ENST00000540507.1_Missense_Mutation_p.A200D	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	304					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACTGCTGAGGCTGCGATGCAG	0.537																																					p.A304D		.											.	FBXO22-658	0			c.C911A						.						133	121	125					15																	76225142		2197	4294	6491	SO:0001583	missense	26263	exon7			CTGAGGCTGCGAT	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.911C>A	15.37:g.76225142C>A	ENSP00000307833:p.Ala304Asp	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	102	9	NM_147188	0	0	0	0	0	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592872	0.86953	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.52	5.52	0.82312	FIST C domain (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.79401	-0.1819	9	0.66056	D	0.02	-26.0739	18.7902	0.91971	0.0:1.0:0.0:0.0	.	304	Q8NEZ5	FBX22_HUMAN	D	304;200	.	ENSP00000307833:A304D	A	+	2	0	FBXO22	74012197	0.999000	0.42202	0.966000	0.40874	0.542000	0.35054	4.175000	0.58263	2.752000	0.94435	0.655000	0.94253	GCT	.		0.537	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		A	76225142	C	A	76225142	3	1	33	1	0	0	0	0	1	0	0	0	5756	797	28	3	974	3	FBXO22	15	76225142	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	7733256	76225142	26306250	98	8316											
PDIA2	64714	hgsc.bcm.edu	37	chr16	334685	334685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacgctgagggcattgccGagtggctgcgacggcgggtg	21	9	0	1	rs200919010		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:334685G>A	ENST00000219406.6	+	3	451	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PDIA2_ENST00000404312.1_Missense_Mutation_p.E145K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	145	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGCATTGCCGAGTGGCTGCG	0.716																																					p.E145K		.											.	PDIA2-91	0			c.G433A						.	G	LYS/GLU	2,4234		0,2,2116	11	17	15		433	1.6	0.7	16		15	12,8348		0,12,4168	yes	missense	PDIA2	NM_006849.2	56	0,14,6284	AA,AG,GG		0.1435,0.0472,0.1111	benign	145/526	334685	14,12582	2118	4180	6298	SO:0001583	missense	64714	exon3			ATTGCCGAGTGGC	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.433G>A	16.37:g.334685G>A	ENSP00000219406:p.Glu145Lys	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	33	17	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	0.020	-1.441726	0.01098	4.72E-4	0.001435	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.40476	1.03;1.03	3.85	1.65	0.23941	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.459039	0.21807	N	0.068825	T	0.13372	0.0324	N	0.02665	-0.54	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.26985	-1.0087	10	0.09843	T	0.71	.	5.2149	0.15336	0.2388:0.1884:0.5728:0.0	.	145	Q13087	PDIA2_HUMAN	K	145;114;145	ENSP00000219406:E145K;ENSP00000384410:E145K	ENSP00000219406:E145K	E	+	1	0	PDIA2	274686	0.017000	0.18338	0.681000	0.30009	0.023000	0.10783	0.986000	0.29590	0.783000	0.33636	0.457000	0.33378	GAG	.		0.716	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	334685	G	A	334685	3	1	33	1	0	0	0	0	1	0	0	0	11707	1059	37	1	443	1	PDIA2	16	334685	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		334685	90020068	99	8317											
PKD1	5310	hgsc.bcm.edu	37	chr16	2156447	2156447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgtgcacagcgcccaGtgggaagaggcggcaagagc	19	10	0	2	rs2003782	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:2156447G>A	ENST00000262304.4	-	18	7649	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.L2481L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2481	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCGCCCAGTGGGAAGAGG	0.716													a|||	1082	0.216054	0.5439	0.1715	5008	,	,		15215	0		0.159	False		,,,				2504	0.0859				p.L2481L		.											.	PKD1-91	0			c.C7441T						.		,	1033,1813		192,649,582	3	4	4		7441,7441	0.4	0	16	dbSNP_92	4	861,5451		64,733,2359	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	256,1382,2941	AA,AG,GG		13.6407,36.2966,20.6814	,	2481/4303,2481/4304	2156447	1894,7264	1423	3156	4579	SO:0001819	synonymous_variant	5310	exon18			CGCCCAGTGGGAA	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.7441C>T	16.37:g.2156447G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	16	NM_000296	0	0	0	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.793;A|0.207		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2156447	G	A	2156447	2	1	33	1	0	0	0	0	0	0	0	1	12002	1020	36	3		3	PKD1	16	2156447	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	1821762	2156447	88198306	100	8318											
LCMT1	51451	broad.mit.edu	37	chr16	25143773	25143773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcttataaaggcatttctaCggaagacagaatgtcattgt	9	6	2	2	rs367707540		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:25143773C>G	ENST00000399069.3	+	3	411	c.256C>G	c.(256-258)Cgg>Ggg	p.R86G	LCMT1_ENST00000380966.4_Missense_Mutation_p.R86G	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	86					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GGCATTTCTACGGAAGACAGA	0.483																																					p.R86G	Colon(200;565 2072 24396 47922 50898)	.											.	LCMT1-22	0			c.C256G						.						127	120	122					16																	25143773		1943	4145	6088	SO:0001583	missense	51451	exon3			TTTCTACGGAAGA	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.256C>G	16.37:g.25143773C>G	ENSP00000382021:p.Arg86Gly	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	111	3	NM_016309	0	0	0	0	0	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252945	0.39797	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.21191	2.02;2.02	5.51	3.43	0.39272	.	0.718048	0.12915	N	0.428603	T	0.18800	0.0451	L	0.38175	1.15	0.42153	D	0.991562	B;B	0.28439	0.185;0.212	B;B	0.36335	0.222;0.22	T	0.09037	-1.0693	10	0.49607	T	0.09	-11.2545	5.9182	0.19067	0.3056:0.5972:0.0:0.0971	.	86;86	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	G	86;86;103	ENSP00000382021:R86G;ENSP00000370353:R86G	ENSP00000370349:R103G	R	+	1	2	LCMT1	25051274	0.953000	0.32496	0.998000	0.56505	0.972000	0.66771	2.293000	0.43558	1.332000	0.45431	0.655000	0.94253	CGG	.		0.483	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		G	25143773	C	G	25143773	3	3	33	1	0	0	0	0	1	0	0	0	8706	527	19	2	266	2	LCMT1	16	25143773	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	22987326	25143773	65210980	101	8319											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	33	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	4764660	29908433	60446320	102	8320											
VPS35	55737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	46714715	46714715	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctttcaaaatatccttcctgGactgaggaaatgacttgaca	7	9	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:46714715G>C	ENST00000299138.7	-	5	432	c.374C>G	c.(373-375)tCc>tGc	p.S125C	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	125					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATCCTTCCTGGACTGAGGAAA	0.363																																					p.S125C		.											.	VPS35-90	0			c.C374G						.						60	59	59					16																	46714715		2203	4300	6503	SO:0001583	missense	55737	exon5			TTCCTGGACTGAG	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.374C>G	16.37:g.46714715G>C	ENSP00000299138:p.Ser125Cys	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	226	24	NM_018206	0	0	0	0	0	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	19.20	3.781779	0.70222	.	.	ENSG00000069329	ENST00000299138	T	0.45276	0.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.45051	1.395	0.80722	D	1	B	0.17465	0.022	B	0.18871	0.023	T	0.22977	-1.0201	10	0.59425	D	0.04	-8.6636	19.7653	0.96337	0.0:0.0:1.0:0.0	.	125	Q96QK1	VPS35_HUMAN	C	125	ENSP00000299138:S125C	ENSP00000299138:S125C	S	-	2	0	VPS35	45272216	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.805000	0.99149	2.730000	0.93505	0.563000	0.77884	TCC	.		0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			C	46714715	G	C	46714715	3	2	33	1	0	0	0	0	1	0	0	0	17252	1174	41	3	2068	3	VPS35	16	46714715	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	16806282	46714715	43640038	103	8321											
IRX3	79191	hgsc.bcm.edu	37	chr16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggagagcgggtgcAggcgggggccgggcggtggg	25	9	0	1	rs1450355	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1		1	False		,,,				2504	1				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1	2	2		1265	2.5	1	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_024336	0	0	0	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54318528	A	G	54318528	3	3	33	1	0	0	0	0	1	0	0	0	7872	188	7	4	252	4	IRX3	16	54318528	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	7603813	54318528	36036225	104	8322											
WWP2	11060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	69874080	69874080	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggagaacaaaggcagcgTtgtctcaggcggagagctga	16	8	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr16:69874080T>G	ENST00000359154.2	+	5	493	c.392T>G	c.(391-393)gTt>gGt	p.V131G	WWP2_ENST00000448661.1_Missense_Mutation_p.V131G|WWP2_ENST00000542271.1_Missense_Mutation_p.V15G|WWP2_ENST00000569174.1_Missense_Mutation_p.V131G|WWP2_ENST00000356003.2_Missense_Mutation_p.V131G|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	131					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						AAAGGCAGCGTTGTCTCAGGC	0.547																																					p.V131G		.											.	WWP2-658	0			c.T392G						.						124	103	110					16																	69874080		2198	4300	6498	SO:0001583	missense	11060	exon5			GCAGCGTTGTCTC	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.392T>G	16.37:g.69874080T>G	ENSP00000352069:p.Val131Gly	Somatic	112	1		WXS	Illumina GAIIx	Phase_I	114	25	NM_001270454	0	0	0	0	0	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683319	0.68157	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.64438	-0.1;-0.1;-0.1;1.17	5.2	4.06	0.47325	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	L	0.51422	1.61	0.80722	D	1	B	0.26400	0.148	B	0.19391	0.025	T	0.42224	-0.9464	9	.	.	.	.	9.9384	0.41565	0.0:0.0:0.1711:0.8289	.	131	O00308	WWP2_HUMAN	G	131;131;131;18;15	ENSP00000352069:V131G;ENSP00000396871:V131G;ENSP00000348283:V131G;ENSP00000445616:V15G	.	V	+	2	0	WWP2	68431581	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.274000	0.65569	0.773000	0.33404	0.533000	0.62120	GTT	.		0.547	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		G	69874080	T	G	69874080	3	3	33	1	0	0	0	0	1	0	0	0	17465	1725	60	5	406	5	WWP2	16	69874080	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	15555552	69874080	20480673	105	8323											
C17orf81	23587	bcgsc.ca	37	chr17	7155861	7155861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagcagggaccggacgcGagttggagatgttggactcg	17	9	0	2	rs2521988	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:7155861G>A	ENST00000396628.2	+	1	257	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CTDNEP1_ENST00000572043.1_5'Flank|ELP5_ENST00000573657.1_Missense_Mutation_p.E14K|ELP5_ENST00000574255.1_Missense_Mutation_p.E14K|ELP5_ENST00000356683.2_Missense_Mutation_p.E14K|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000354429.2_Missense_Mutation_p.E14K|CTDNEP1_ENST00000318988.6_5'Flank|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000574993.1_Missense_Mutation_p.E14K|ELP5_ENST00000396627.2_Missense_Mutation_p.E14K	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	14			E -> K (in dbSNP:rs2521988). {ECO:0000269|Ref.2}.		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)											GACCGGACGCGAGTTGGAGAT	0.692													G|||	403	0.0804712	0.0068	0.049	5008	,	,		15804	0.0367		0.1421	False		,,,				2504	0.184				p.E14K		.											.	.	0			c.G40A						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	121,4285	90.2+/-128.9	3,115,2085	58	51	53		40,40,40,40	-6.9	0	17	dbSNP_100	53	1183,7417	238.2+/-269.8	77,1029,3194	yes	missense,missense,missense,missense	C17orf81	NM_015362.3,NM_203413.1,NM_203414.1,NM_203415.1	56,56,56,56	80,1144,5279	AA,AG,GG		13.7558,2.7463,10.0261	benign,benign,benign,benign	14/317,14/280,14/317,14/317	7155861	1304,11702	2203	4300	6503	SO:0001583	missense	23587	exon1			GGACGCGAGTTGG	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.40G>A	17.37:g.7155861G>A	ENSP00000379869:p.Glu14Lys	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	107	5	NM_203414	0	0	0	0	0	A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	CCDS11094.1	161	0.07371794871794872	3	0.006097560975609756	17	0.04696132596685083	25	0.043706293706293704	116	0.15303430079155672	G	0.121	-1.125829	0.01770	0.027463	0.137558	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.47869	1.49;1.49;1.49;0.83	3.48	-6.95	0.01628	.	4.253690	0.00357	N	0.000026	T	0.00144	0.0004	N	0.19112	0.55	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.04178	-1.0971	9	0.30854	T	0.27	40.3597	1.568	0.02608	0.3587:0.327:0.1448:0.1695	rs2521988	14;14;14;14	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	K	14	ENSP00000346412:E14K;ENSP00000379869:E14K;ENSP00000379868:E14K;ENSP00000349111:E14K	ENSP00000346412:E14K	E	+	1	0	C17orf81	7096585	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.798000	0.00363	-5.095000	0.00022	-1.040000	0.02373	GAG	G|0.906;A|0.094		0.692	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		A	7155861	G	A	7155861	3	1	33	1	0	0	0	0	1	0	0	0	1892	1059	37	1	42	1	C17orf81	17	7155861	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		7155861	74039349	106	8324											
GSDMA	284110	bcgsc.ca	37	chr17	38121993	38121993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccagacagctaaaccctcGaggggacctgacaccacttg	11	14	0	2	rs3894194	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:38121993G>A	ENST00000301659.4	+	2	171	c.53G>A	c.(52-54)cGa>cAa	p.R18Q		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	18			R -> Q (in dbSNP:rs3894194).		apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTAAACCCTCGAGGGGACCTG	0.582													G|||	2158	0.430911	0.2587	0.5043	5008	,	,		18378	0.5397		0.4463	False		,,,				2504	0.4836				p.R18Q		.											.	GSDMA-90	0			c.G53A	GRCh37	CM073116	GSDMA	M	rs3894194	.	G	GLN/ARG	1170,2796		170,830,983	54	59	58	http://www.ncbi.nlm.nih.gov/pubmed?term	53	3.3	1	17	dbSNP_108	58	3796,4528		879,2038,1245	yes	missense	GSDMA	NM_178171.4	43	1049,2868,2228	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	45.6031,29.5008,40.4068	benign	18/446	38121993	4966,7324	1983	4162	6145	SO:0001583	missense	284110	exon2			ACCCTCGAGGGGA	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.53G>A	17.37:g.38121993G>A	ENSP00000301659:p.Arg18Gln	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	104	6	NM_178171	0	0	0	0	0	Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	930	0.4258241758241758	130	0.26422764227642276	181	0.5	284	0.4965034965034965	335	0.4419525065963061	G	13.55	2.270656	0.40194	0.295008	0.456031	ENSG00000167914	ENST00000301659	T	0.22743	1.94	5.36	3.34	0.38264	.	0.710982	0.12216	N	0.488832	T	0.00012	0.0000	L	0.49455	1.56	0.38224	P	0.05916500000000002	B	0.16166	0.016	B	0.14023	0.01	T	0.43393	-0.9394	9	0.20046	T	0.44	-4.2602	7.6027	0.28085	0.1926:0.0:0.8074:0.0	rs3894194;rs12948522;rs52814263;rs61411446;rs3894194	18	Q96QA5	GSDMA_HUMAN	Q	18	ENSP00000301659:R18Q	ENSP00000301659:R18Q	R	+	2	0	GSDMA	35375519	0.267000	0.24122	1.000000	0.80357	0.934000	0.57294	0.886000	0.28241	1.245000	0.43885	0.462000	0.41574	CGA	G|0.341;T|0.179		0.582	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		A	38121993	G	A	38121993	3	1	33	1	0	0	0	0	1	0	0	0	6843	1058	37	1	55	1	GSDMA	17	38121993	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	30966132	38121993	43073217	107	8325											
KRT27	342574	bcgsc.ca	37	chr17	38936017	38936017	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggcttcgtactcagctcGcatattgttcagcagaaccg	11	11	2	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:38936017G>T	ENST00000301656.3	-	4	821	c.781C>A	c.(781-783)Cga>Aga	p.R261R	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TACTCAGCTCGCATATTGTTC	0.607																																					p.R261R		.											.	KRT27-90	0			c.C781A						.						50	50	50					17																	38936017		2203	4300	6503	SO:0001819	synonymous_variant	342574	exon4			CAGCTCGCATATT	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.781C>A	17.37:g.38936017G>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	112	5	NM_181537	0	0	0	0	0		Silent	SNP	ENST00000301656.3	37	CCDS11375.1																																																																																			.		0.607	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		T	38936017	G	T	38936017	2	4	33	1	0	0	0	0	0	0	0	1	8491	1095	38	2		2	KRT27	17	38936017	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	814024	38936017	42259193	108	8326											
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240789	39240803	+	In_Frame_Del	DEL	CGCCCCAGCTGCTGC	CGCCCCAGCTGCTGC	-													gctgccagcccacctgctgcCgccccagctgctgccgcccc					rs9894966|rs9894106|rs199957151|rs11650261|rs541163988|rs553572799	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	CGCCCCAGCTGCTGC	CGCCCCAGCTGCTGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:39240789_39240803delCGCCCCAGCTGCTGC	ENST00000391417.4	+	1	331_345	c.331_345delCGCCCCAGCTGCTGC	c.(331-345)cgccccagctgctgcdel	p.RPSCC111del		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.S113C(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cacctgctgccgccccagctgctgccgcccctgct	0.66																																					p.111_115del		.											.	.	4	Substitution - Missense(1)|Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	NS(2)|prostate(2)	c.331_345del						.																																			SO:0001651	inframe_deletion	100132476	exon1			TGCTGCCGCCCCA	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.331_345delCGCCCCAGCTGCTGC	17.37:g.39240789_39240803delCGCCCCAGCTGCTGC	ENSP00000375236:p.Arg111_Cys115del	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	124	0	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	In_Frame_Del	DEL	ENST00000391417.4	37	CCDS45673.1																																																																																			.		0.66	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			-	39240803	CGCCCCAGCTGCTGC	-	39240789	7	5	33	1	0	1	0	1	0	0	0	0	8583	652	23	0	333	0	KRTAP4-7	17	39240789	In_Frame_Del	DEL	CGCCCCAGCTGCTGC	TCGA-OR-A5KP-01A-11D-A30A-10	304772	39240789	41954421	109	8327			2	39		2	2	16	N	CGCCCCAGCTGCTGC_CG	7.413307e-05
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240804	39240805	+	Missense_Mutation	DNP	CG	CG	AT													gctgccgccccagctgctgcCgcccctgctgctgcctgcgt							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:39240804_39240805CG>AT	ENST00000391417.4	+	1	346_347	c.346_347CG>AT	c.(346-348)CGc>ATc	p.R116I		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgccgcccctgctgc	0.673																																					p.R116I		.											.	.	0			c.G347T						.																																			SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	Exception_encountered	17.37:g.39240804_39240805delinsAT	ENSP00000375236:p.Arg116Ile	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	125	0	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	DNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.		0.673	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			AT	39240805	CG	AT	39240804	3	1	33	1	0	0	0	0	1	0	0	0	8583	652	23	2	348	2	KRTAP4-7	17	39240804	Missense_Mutation	DNP	CG	TCGA-OR-A5KP-01A-11D-A30A-10	15	39240804	41954406	110	8328			2	39		2	2	16	N	CGCCCCAGCTGCTGC_CG	7.413307e-05
C17orf53	78995	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	42225398	42225398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggctttgggcctgccagActtggacctctgcctccctg	12	14	1	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:42225398A>G	ENST00000319977.4	+	3	464	c.227A>G	c.(226-228)gAc>gGc	p.D76G	C17orf53_ENST00000245382.6_Missense_Mutation_p.D76G|C17orf53_ENST00000585683.1_Missense_Mutation_p.D76G	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	76										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)		GGCCTGCCAGACTTGGACCTC	0.612																																					p.D76G		.											.	C17orf53-90	0			c.A227G						.						84	71	76					17																	42225398		2203	4300	6503	SO:0001583	missense	78995	exon3			TGCCAGACTTGGA	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.227A>G	17.37:g.42225398A>G	ENSP00000313500:p.Asp76Gly	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	56	6	NM_001171251	0	0	0	0	0	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	A	9.811	1.183068	0.21870	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.44482	0.92;0.92	5.28	2.85	0.33270	.	0.356386	0.24282	N	0.039887	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.13407	0.009;0.004;0.009	T	0.20672	-1.0268	10	0.15066	T	0.55	-7.2203	5.7131	0.17945	0.1773:0.6922:0.0:0.1304	.	76;76;76	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	G	76	ENSP00000313500:D76G;ENSP00000245382:D76G	ENSP00000245382:D76G	D	+	2	0	C17orf53	39580924	0.006000	0.16342	0.017000	0.16124	0.001000	0.01503	0.671000	0.25172	0.537000	0.28751	-0.302000	0.09304	GAC	.		0.612	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		G	42225398	A	G	42225398	3	3	33	1	0	0	0	0	1	0	0	0	1868	275	10	4	237	4	C17orf53	17	42225398	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	2984594	42225398	38969812	111	8329											
ABCC3	8714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48741342	48741342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaactcagtcaaacgtgCgtccactgtgggggaaattg	11	11	2	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:48741342C>T	ENST00000285238.8	+	10	1288	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	ABCC3_ENST00000427699.1_Missense_Mutation_p.A403V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	403	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GTCAAACGTGCGTCCACTGTG	0.582																																					p.A403V		.											.	ABCC3-93	0			c.C1208T						.						150	124	133					17																	48741342		2203	4300	6503	SO:0001583	missense	8714	exon10			AACGTGCGTCCAC	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.1208C>T	17.37:g.48741342C>T	ENSP00000285238:p.Ala403Val	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	263	86	NM_003786	0	0	0	0	0	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398496	0.42512	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.92099	-2.97;-2.52	4.71	2.32	0.28847	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.297280	0.31989	N	0.006760	D	0.88481	0.6448	M	0.66439	2.03	0.27346	N	0.956372	P;B	0.38048	0.616;0.411	B;B	0.29524	0.097;0.103	T	0.82688	-0.0333	10	0.72032	D	0.01	-10.888	12.277	0.54741	0.3529:0.6471:0.0:0.0	.	403;403	O15438;O15438-5	MRP3_HUMAN;.	V	403	ENSP00000395160:A403V;ENSP00000285238:A403V	ENSP00000285238:A403V	A	+	2	0	ABCC3	46096341	0.047000	0.20315	0.692000	0.30179	0.510000	0.34073	2.747000	0.47475	0.788000	0.33755	-0.293000	0.09583	GCG	.		0.582	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		T	48741342	C	T	48741342	3	4	33	1	0	0	0	0	1	0	0	0	54	768	27	1	1246	1	ABCC3	17	48741342	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	6515944	48741342	32453868	112	8330											
HEATR6	63897	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	58151224	58151224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatgccaacaggaaatcCaagtgctgttcatcaacaat	7	9	2	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr17:58151224C>T	ENST00000184956.6	-	3	367	c.351G>A	c.(349-351)ttG>ttA	p.L117L	HEATR6_ENST00000585712.1_5'Flank|HEATR6_ENST00000585976.1_Silent_p.L117L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	117							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)			ACAGGAAATCCAAGTGCTGTT	0.388																																					p.L117L		.											.	HEATR6-227	0			c.G351A						.						87	86	86					17																	58151224		2203	4300	6503	SO:0001819	synonymous_variant	63897	exon3			GAAATCCAAGTGC	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.351G>A	17.37:g.58151224C>T		Somatic	197	1		WXS	Illumina GAIIx	Phase_I	177	75	NM_022070	0	0	0	0	0	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	CCDS11623.1																																																																																			.		0.388	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		T	58151224	C	T	58151224	2	4	33	1	0	0	0	0	0	0	0	1	7060	593	21	3		3	HEATR6	17	58151224	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	9409882	58151224	23043986	113	8331											
TMEM200C	645369	hgsc.bcm.edu	37	chr18	5890571	5890571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccttggccagagggcTggagtccgggtccgcactcc	17	14	0	1	rs7506026	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr18:5890571T>C	ENST00000581347.2	-	3	2137	c.1492A>G	c.(1492-1494)Agc>Ggc	p.S498G	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.S498G			A6NKL6	T200C_HUMAN	transmembrane protein 200C	498	Pro-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCAGAGGGCTGGAGTCCGGG	0.791													T|||	237	0.0473243	0.0847	0.0375	5008	,	,		7356	0.001		0.0775	False		,,,				2504	0.0204				p.S498G		.											.	.	0			c.A1492G						.	T	GLY/SER	155,2477		3,149,1164	3	3	3		1492	-1.2	0	18	dbSNP_116	3	267,5869		4,259,2805	no	missense	TMEM200C	NM_001080209.1	56	7,408,3969	CC,CT,TT		4.3514,5.8891,4.813	benign	498/622	5890571	422,8346	1316	3068	4384	SO:0001583	missense	645369	exon1			GAGGGCTGGAGTC		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1492A>G	18.37:g.5890571T>C	ENSP00000463375:p.Ser498Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_001080209	0	0	0	0	0		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	128	0.05860805860805861	46	0.09349593495934959	17	0.04696132596685083	3	0.005244755244755245	62	0.08179419525065963	T	13.97	2.397165	0.42512	0.058891	0.043514	ENSG00000206432	ENST00000383490	.	.	.	4.37	-1.18	0.09617	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	8	0.08599	T	0.76	.	4.9842	0.14182	0.1362:0.3204:0.0:0.5434	rs7506026	498	A6NKL6	T200C_HUMAN	G	498	.	ENSP00000372982:S498G	S	-	1	0	TMEM200C	5880571	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.166000	0.09954	-0.178000	0.10672	0.459000	0.35465	AGC	T|0.941;C|0.059		0.791	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		C	5890571	T	C	5890571	3	2	33	1	0	0	0	0	1	0	0	0	16172	1580	55	4	377	4	TMEM200C	18	5890571	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10		5890571	72186677	114	8332											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929678	929678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgaggacagagagcccgaGagtgcccggatgcagcgggc	18	11	0	2	rs3826948	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3	4	3		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	929678	G	A	929678	2	1	33	1	0	0	0	0	0	0	0	1	916	933	33	3		3	ARID3A	19	929678	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10		929678	58199305	115	8333											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	33	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	75	929753	58199230	116	8334											
FZR1	51343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3525978	3525978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaactggagcgtgaactTccacaggattaacgtgaggg	13	9	0	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:3525978T>G	ENST00000395095.3	+	2	182	c.182T>G	c.(181-183)tTc>tGc	p.F61C	FZR1_ENST00000313639.8_Missense_Mutation_p.F61C|FZR1_ENST00000441788.2_Missense_Mutation_p.F61C	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	61					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGTGAACTTCCACAGGATT	0.682																																					p.F61C		.											.	FZR1-227	0			c.T182G						.						37	37	37					19																	3525978		2199	4297	6496	SO:0001583	missense	51343	exon2			TGAACTTCCACAG	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.182T>G	19.37:g.3525978T>G	ENSP00000378529:p.Phe61Cys	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	121	22	NM_001136197	0	0	0	0	0	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012218	0.75046	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08193	3.12;3.12;3.12	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.89214	3.015	0.33124	D	0.542256	P;D;D	0.76494	0.68;0.999;0.999	P;D;D	0.76071	0.515;0.987;0.971	T	0.53683	-0.8404	10	0.39692	T	0.17	-56.1808	12.9432	0.58357	0.0:0.0:0.0:1.0	.	61;61;61	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	C	61	ENSP00000410369:F61C;ENSP00000378529:F61C;ENSP00000321800:F61C	ENSP00000321800:F61C	F	+	2	0	FZR1	3476978	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.043000	0.71004	1.731000	0.51592	0.459000	0.35465	TTC	.		0.682	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		G	3525978	T	G	3525978	3	3	33	1	0	0	0	0	1	0	0	0	6162	1783	62	5	188	5	FZR1	19	3525978	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	2596225	3525978	55603005	117	8335											
ZNF414	84330	hgsc.bcm.edu	37	chr19	8576670	8576670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggttccagcagcgggaaCggcaggcccggcgctgatgc	17	12	0	1	rs7175	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4	6	5		705,705	-2	0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_032370	0	0	0	0	0	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		T	8576670	C	T	8576670	2	4	33	1	0	0	0	0	0	0	0	1	17939	523	19	1		1	ZNF414	19	8576670	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	5050692	8576670	50552313	118	8336											
DDX39	10212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	14520224	14520224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggccaccaggatccgcCgctggaaatccttgaactgc	12	13	0	1	rs188717433		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:14520224C>T	ENST00000242776.4	-	9	1111	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	337	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CAGGATCCGCCGCTGGAAATC	0.587													C|||	1	0.000199681	0	0	5008	,	,		18554	0.001		0	False		,,,				2504	0				p.R337Q		.											.	DDX39A-226	0			c.G1010A						.						69	72	71					19																	14520224		2203	4300	6503	SO:0001583	missense	10212	exon9			ATCCGCCGCTGGA	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.1010G>A	19.37:g.14520224C>T	ENSP00000242776:p.Arg337Gln	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	114	29	NM_005804	0	0	0	0	0	Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	CCDS12308.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.7	4.187051	0.78789	.	.	ENSG00000123136	ENST00000451994;ENST00000242776	T	0.04758	3.56	5.14	5.14	0.70334	Helicase, C-terminal (3);	0.052213	0.64402	D	0.000001	T	0.04679	0.0127	N	0.16708	0.43	0.80722	D	1	B	0.17038	0.02	B	0.12156	0.007	T	0.44862	-0.9300	10	0.62326	D	0.03	-26.6292	16.4475	0.83942	0.0:1.0:0.0:0.0	.	337	O00148	DX39A_HUMAN	Q	380;337	ENSP00000242776:R337Q	ENSP00000242776:R337Q	R	-	2	0	DDX39A	14381224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.086000	0.76885	2.565000	0.86533	0.561000	0.74099	CGG	C|0.999;T|0.000		0.587	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		T	14520224	C	T	14520224	3	4	33	1	0	0	0	0	1	0	0	0	4366	652	23	1	285	1	DDX39	19	14520224	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	5943554	14520224	44608759	119	8337											
GDF1	2657	hgsc.bcm.edu	37	chr19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgccccgcggccgagGcaggctccgaggcccgggtg	18	15	0	0	rs4808863	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2	2	2					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001492	0	0	0	0	0	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		A	18980172	G	A	18980172	3	1	33	1	0	0	0	0	1	0	0	0	6336	1203	42	3	769	3	GDF1	19	18980172	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	4459948	18980172	40148811	120	8338											
C19orf12	83636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	30199201	30199201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcccaccaaacccccgacGaaggccatggcccctgtgac	9	20	0	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:30199201G>A	ENST00000392278.2	-	2	279	c.153C>T	c.(151-153)ttC>ttT	p.F51F	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_Silent_p.F40F|C19orf12_ENST00000592153.1_Silent_p.F40F	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	51					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			AACCCCCGACGAAGGCCATGG	0.607																																					p.F51F		.											.	C19orf12-204	0			c.C153T						.						52	57	56					19																	30199201		1897	4101	5998	SO:0001819	synonymous_variant	83636	exon2			CCCGACGAAGGCC	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 4"	614297	"spastic paraplegia 43 (autosomal recessive)"	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.153C>T	19.37:g.30199201G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	85	15	NM_001031726	0	0	0	0	0	B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	CCDS42542.1																																																																																			.		0.607	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		A	30199201	G	A	30199201	2	1	33	1	0	0	0	0	0	0	0	1	1916	1049	37	1		1	C19orf12	19	30199201	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	11219029	30199201	28929782	121	8339											
LRP3	4037	hgsc.bcm.edu	37	chr19	33698018	33698018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttcaccggccgcgggCgccccgaggccagatcccac	12	19	2	1	rs11539586	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:33698018C>T	ENST00000253193.7	+	7	2052	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	617					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGCCGCGGGCGCCCCGAGGC	0.751													c|||	306	0.0611022	0.0598	0.0303	5008	,	,		10346	0.0446		0.0348	False		,,,				2504	0.1288				p.A617V		.											.	LRP3-92	0			c.C1850T						.	T	VAL/ALA	150,3256		0,150,1553	2	3	3		1850	1.1	0.1	19	dbSNP_120	3	222,6744		4,214,3265	no	missense	LRP3	NM_002333.3	64	4,364,4818	TT,TC,CC		3.1869,4.404,3.5866	benign	617/771	33698018	372,10000	1703	3483	5186	SO:0001583	missense	4037	exon7			CGCGGGCGCCCCG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1850C>T	19.37:g.33698018C>T	ENSP00000253193:p.Ala617Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_002333	0	0	0	0	0	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	71	0.03250915750915751	23	0.046747967479674794	8	0.022099447513812154	15	0.026223776223776224	25	0.032981530343007916	c	1.581	-0.531531	0.04112	0.04404	0.031869	ENSG00000130881	ENST00000253193	D	0.87256	-2.23	3.32	1.14	0.20703	.	0.411391	0.20707	N	0.087178	T	0.38268	0.1034	L	0.38175	1.15	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.38562	0.001;0.276	T	0.55952	-0.8059	10	0.27785	T	0.31	-5.3016	8.5568	0.33487	0.0:0.7835:0.0:0.2165	rs11539586	617;535	O75074;B7ZAJ9	LRP3_HUMAN;.	V	617	ENSP00000253193:A617V	ENSP00000253193:A617V	A	+	2	0	LRP3	38389858	0.435000	0.25577	0.147000	0.22382	0.046000	0.14306	1.013000	0.29937	0.098000	0.17522	-3.141000	0.00059	GCG	T|0.000;G|0.967		0.751	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33698018	C	T	33698018	3	4	33	1	0	0	0	0	1	0	0	0	8993	768	27	1	1876	1	LRP3	19	33698018	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	3498817	33698018	25430965	122	8340											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P|SARS2_ENST00000448145.2_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	33	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	5742900	39440918	19688065	123	8341											
SPTBN4	57731	hgsc.bcm.edu	37	chr19	41025758	41025758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcgaggggcccctGcccaacagcctagaagaggc	16	14	0	2	rs201389714	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:41025758G>A	ENST00000352632.3	+	16	3440	c.3354G>A	c.(3352-3354)ctG>ctA	p.L1118L	SPTBN4_ENST00000344104.3_Silent_p.L1118L|SPTBN4_ENST00000598249.1_Silent_p.L1118L|SPTBN4_ENST00000595535.1_Silent_p.L1118L|SPTBN4_ENST00000338932.3_Silent_p.L1118L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1118					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)			AGGGGCCCCTGCCCAACAGCC	0.711													G|||	2	0.000399361	0	0	5008	,	,		8661	0		0.002	False		,,,				2504	0				p.L1118L		.											.	SPTBN4-94	0			c.G3354A						.						2	3	2					19																	41025758		1543	3106	4649	SO:0001819	synonymous_variant	57731	exon16			GCCCCTGCCCAAC	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.3354G>A	19.37:g.41025758G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_020971	0	0	0	0	0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			G|0.997;A|0.003		0.711	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41025758	G	A	41025758	2	1	33	1	0	0	0	0	0	0	0	1	15168	1306	46	3		3	SPTBN4	19	41025758	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	1584840	41025758	18103225	124	8342											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	33	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	8139194	49164952	9964031	125	8343											
SHANK1	50944	broad.mit.edu	37	chr19	51215270	51215270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctgttgaacaggagcagCtcgcagcatcgggggtcacc	14	13	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:51215270C>A	ENST00000293441.1	-	6	912	c.894G>T	c.(892-894)gaG>gaT	p.E298D	SHANK1_ENST00000359082.3_Missense_Mutation_p.E298D|SHANK1_ENST00000391814.1_Missense_Mutation_p.E298D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	298					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)		ACAGGAGCAGCTCGCAGCATC	0.637																																					p.E298D		.											.	SHANK1-153	0			c.G894T						.						69	73	72					19																	51215270		2203	4300	6503	SO:0001583	missense	50944	exon6			GAGCAGCTCGCAG	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.894G>T	19.37:g.51215270C>A	ENSP00000293441:p.Glu298Asp	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	222	9	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232587	0.39498	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17528	2.27;2.27;2.27	4.68	3.65	0.41850	Ankyrin repeat-containing domain (3);	0.000000	0.56097	U	0.000022	T	0.25121	0.0610	L	0.31207	0.915	0.50813	D	0.999896	D	0.76494	0.999	D	0.80764	0.994	T	0.02417	-1.1162	10	0.87932	D	0	-19.8045	6.8766	0.24151	0.0:0.7227:0.0:0.2773	.	298	Q9Y566	SHAN1_HUMAN	D	298	ENSP00000293441:E298D;ENSP00000351984:E298D;ENSP00000375690:E298D	ENSP00000293441:E298D	E	-	3	2	SHANK1	55907082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.660000	0.37397	1.116000	0.41820	0.555000	0.69702	GAG	.		0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51215270	C	A	51215270	3	1	33	1	0	0	0	0	1	0	0	0	14309	796	28	3	5663	3	SHANK1	19	51215270	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	2050318	51215270	7913713	126	8344											
SIGLEC5	8778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	52132321	52132321	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagatggtgatggtctGtggagcatctgggataaaaa	14	5	2	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr19:52132321G>A	ENST00000534261.2	-	5	1108	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	SIGLEC5_ENST00000570106.2_Nonsense_Mutation_p.Q237*|SIGLEC5_ENST00000222107.4_Nonsense_Mutation_p.Q237*|SIGLEC5_ENST00000429354.3_Nonsense_Mutation_p.Q237*|SIGLEC5_ENST00000599649.1_Nonsense_Mutation_p.Q237*			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	237	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GTGATGGTCTGTGGAGCATCT	0.522																																					p.Q237X		.											.	SIGLEC5-92	0			c.C709T						.						188	167	174					19																	52132321		2203	4300	6503	SO:0001587	stop_gained	8778	exon4			TGGTCTGTGGAGC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.709C>T	19.37:g.52132321G>A	ENSP00000473238:p.Gln237*	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	197	26	NM_003830	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619900	0.96660	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	.	.	.	3.02	-4.87	0.03123	.	2.260180	0.02716	N	0.113454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	2.9636	0.05901	0.1208:0.4302:0.2931:0.1559	.	.	.	.	X	237	.	ENSP00000222107:Q237X	Q	-	1	0	SIGLEC5	56824133	0.000000	0.05858	0.004000	0.12327	0.399000	0.30720	-0.356000	0.07661	-0.793000	0.04475	0.313000	0.20887	CAG	.		0.522	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		A	52132321	G	A	52132321	4	1	33	1	0	0	0	0	0	1	0	0	14356	1386	48	3	970	3	SIGLEC5	19	52132321	Nonsense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	917051	52132321	6996662	127	8345											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_033089	0	0	0	0	0	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	33	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10		278515	62747005	128	8346											
RSPO4	343637	bcgsc.ca	37	chr20	944746	944746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggctccagccgccccaggGacccagttcacactcccctg	11	19	1	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:944746G>T	ENST00000217260.4	-	4	523	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	143	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCGCCCCAGGGACCCAGTTCA	0.642																																					p.P143T		.											.	RSPO4-90	0			c.C427A						.						15	17	16					20																	944746		1899	4104	6003	SO:0001583	missense	343637	exon4			CCCAGGGACCCAG	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.427C>A	20.37:g.944746G>T	ENSP00000217260:p.Pro143Thr	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_001029871	0	0	0	0	0	A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	8.423	0.846872	0.17034	.	.	ENSG00000101282	ENST00000217260	T	0.76060	-0.99	3.95	1.91	0.25777	Growth factor, receptor (1);	0.640697	0.14929	N	0.290205	T	0.70037	0.3178	L	0.46157	1.445	0.80722	D	1	P	0.51351	0.944	P	0.47981	0.563	T	0.67296	-0.5706	10	0.62326	D	0.03	-24.5518	7.8519	0.29459	0.094:0.1637:0.7422:0.0	.	143	Q2I0M5	RSPO4_HUMAN	T	143	ENSP00000217260:P143T	ENSP00000217260:P143T	P	-	1	0	RSPO4	892746	1.000000	0.71417	0.972000	0.41901	0.048000	0.14542	3.609000	0.54117	0.427000	0.26145	0.449000	0.29647	CCC	.		0.642	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		T	944746	G	T	944746	3	4	33	1	0	0	0	0	1	0	0	0	13757	1174	41	3	285	3	RSPO4	20	944746	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	666231	944746	62080774	129	8347											
ADAM33	80332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3652895	3652895	+	Missense_Mutation	SNP	A	A	G													taggtaaacgtctgggggacAgtgggaggaggtgcccgtgc							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:3652895A>G	ENST00000356518.2	-	14	1724	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	ADAM33_ENST00000350009.2_Missense_Mutation_p.C495R|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.C495R	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	495	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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						TCTGGGGGACAGTGGGAGGAG	0.662																																					p.C495R		.											.	ADAM33-291	0			c.T1483C						.						71	70	70					20																	3652895		2203	4300	6503	SO:0001583	missense	80332	exon14			GGGGACAGTGGGA	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.1483T>C	20.37:g.3652895A>G	ENSP00000348912:p.Cys495Arg	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	166	39	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	a	14.50	2.552935	0.45487	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.71461	-0.57;-0.57;-0.57	4.54	4.54	0.55810	Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	D	0.91181	0.7222	H	0.99811	4.8	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	0.94291	0.7528	9	0.87932	D	0	.	12.8434	0.57815	1.0:0.0:0.0:0.0	.	495;495;495	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	R	495;495;495;375	ENSP00000348912:C495R;ENSP00000369190:C495R;ENSP00000322550:C495R	ENSP00000322550:C495R	C	-	1	0	ADAM33	3600895	1.000000	0.71417	0.843000	0.33291	0.099000	0.18886	8.982000	0.93471	1.910000	0.55303	0.375000	0.23000	TGT	.		0.662	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		G	3652895	A	G	3652895	3	3	33	1	0	0	0	0	1	0	0	0	250	188	7	4	994	4	ADAM33	20	3652895	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	2708149	3652895	59372625	130	8348	70	2									
ADAM33	80332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3652900	3652900	+	Missense_Mutation	SNP	G	G	C													aaacgtctgggggacagtggGaggaggtgcccgtgcaaaac							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:3652900G>C	ENST00000356518.2	-	14	1719	c.1478C>G	c.(1477-1479)tCc>tGc	p.S493C	ADAM33_ENST00000350009.2_Missense_Mutation_p.S493C|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.S493C	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	493	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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						GGGACAGTGGGAGGAGGTGCC	0.667																																					p.S493C		.											.	ADAM33-291	0			c.C1478G						.						72	70	71					20																	3652900		2203	4300	6503	SO:0001583	missense	80332	exon14			CAGTGGGAGGAGG	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.1478C>G	20.37:g.3652900G>C	ENSP00000348912:p.Ser493Cys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	168	37	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.780118	0.49891	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.12255	2.7;2.7;2.7	4.54	4.54	0.55810	Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	T	0.22003	0.0530	L	0.37561	1.115	0.30551	N	0.765446	P;P;P	0.52061	0.939;0.95;0.95	P;P;P	0.52758	0.584;0.708;0.708	T	0.02539	-1.1144	9	0.87932	D	0	.	16.016	0.80441	0.0:0.0:1.0:0.0	.	493;493;493	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	C	493;493;493;373	ENSP00000348912:S493C;ENSP00000369190:S493C;ENSP00000322550:S493C	ENSP00000322550:S493C	S	-	2	0	ADAM33	3600900	0.999000	0.42202	0.276000	0.24689	0.042000	0.13812	4.551000	0.60740	2.357000	0.79964	0.457000	0.33378	TCC	.		0.667	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		C	3652900	G	C	3652900	3	2	33	1	0	0	0	0	1	0	0	0	250	1174	41	3	999	3	ADAM33	20	3652900	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	5	3652900	59372620	131	8349	70	2									
RBM39	9584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34300947	34300947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcaattcctacctgccaCagcaccaaatgccaaagagc	6	14	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:34300947C>A	ENST00000253363.6	-	12	1191	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	RBM39_ENST00000528062.3_Missense_Mutation_p.V368L|RBM39_ENST00000407261.4_Missense_Mutation_p.V233L|RBM39_ENST00000361162.6_Missense_Mutation_p.V390L			Q14498	RBM39_HUMAN	RNA binding motif protein 39	390	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTACCTGCCACAGCACCAAAT	0.363																																					p.V390L		.											.	RBM39-91	0			c.G1168T						.						52	50	51					20																	34300947		2203	4300	6503	SO:0001583	missense	9584	exon12			CTGCCACAGCACC	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1168G>T	20.37:g.34300947C>A	ENSP00000253363:p.Val390Leu	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	25	9	NM_184234	0	0	0	0	0	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.360|7.360	0.624647|0.624647	0.14193|0.14193	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000448303|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	.|T;T;T;T	.|0.41065	.|1.01;2.15;1.01;1.01	5.71|5.71	4.76|4.76	0.60689|0.60689	.|.	.|0.167041	.|0.53938	.|D	.|0.000050	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.25201|0.25201	0.72|0.72	0.41436|0.41436	D|D	0.987892|0.987892	.|B;B;B;B;B	.|0.11235	.|0.004;0.004;0.001;0.001;0.001	.|B;B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002;0.002	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.07325	.|T	.|0.83	.|.	15.0982|15.0982	0.72253|0.72253	0.0:0.9309:0.0:0.0691|0.0:0.9309:0.0:0.0691	.|.	.|368;368;390;390;366	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	F|L	240|390;390;368;233	.|ENSP00000253363:V390L;ENSP00000354437:V390L;ENSP00000436747:V368L;ENSP00000384541:V233L	.|ENSP00000253363:V390L	C|V	-|-	2|1	0|0	RBM39|RBM39	33764361|33764361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.437000|4.437000	0.59955|0.59955	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	TGT|GTG	.		0.363	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		A	34300947	C	A	34300947	3	1	33	1	0	0	0	0	1	0	0	0	13178	478	17	3	448	3	RBM39	20	34300947	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	30648047	34300947	28724573	132	8350											
C20orf117	140710	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	35422018	35422020	+	In_Frame_Del	DEL	GTT	GTT	-													aagaggctggagagtccatcGttgatgtttctcaatacagg							TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	GTT	GTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:35422018_35422020delGTT	ENST00000357779.3	-	14	4077_4079	c.3751_3753delAAC	c.(3751-3753)aacdel	p.N1251del	SOGA1_ENST00000456801.2_In_Frame_Del_p.N1092del|SOGA1_ENST00000237536.4_In_Frame_Del_p.N1489del|SOGA1_ENST00000279034.6_Intron			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1251					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						AGAGTCCATCGTTGATGTTTCTC	0.626																																					p.1489_1489del		.											.	.	0			c.4465_4467del						.																																			SO:0001651	inframe_deletion	140710	exon14			TCCATCGTTGATG	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.3751_3753delAAC	20.37:g.35422018_35422020delGTT	ENSP00000350424:p.Asn1251del	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	68	13	NM_080627	0	0	0	0	0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	In_Frame_Del	DEL	ENST00000357779.3	37																																																																																				.		0.626	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		-	35422020	GTT	-	35422018	7	5	33	1	0	1	0	1	0	0	0	0	2090	1136	40	0	588	0	C20orf117	20	35422018	In_Frame_Del	DEL	GTT	TCGA-OR-A5KP-01A-11D-A30A-10	1121071	35422018	27603502	133	8351											
TGM2	7052	broad.mit.edu;bcgsc.ca	37	chr20	36760743	36760743	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccagcctgcccttaccCggatcttgatttctggattc	8	14	2	1	rs150712844		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:36760743C>T	ENST00000361475.2	-	11	1948	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	TGM2_ENST00000536724.1_Splice_Site_p.R532Q|TGM2_ENST00000536701.1_Splice_Site_p.R511Q	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	592					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCCCTTACCCGGATCTTGAT	0.622																																					p.R592Q		.											.	TGM2-155	0			c.G1775A						.	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	75	78	77		1775	4.6	1	20	dbSNP_134	77	0,8600		0,0,4300	no	missense-near-splice	TGM2	NM_004613.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	592/688	36760743	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	7052	exon11			CTTACCCGGATCT	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1776+1G>A	20.37:g.36760743C>T		Somatic	80	1		WXS	Illumina GAIIx	Phase_I	91	7	NM_004613	0	0	0	0	0	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949459	0.73787	6.81E-4	0.0	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.68181	-0.31;-0.31;-0.31	4.62	4.62	0.57501	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.180025	0.46758	N	0.000263	T	0.58090	0.2098	L	0.49778	1.585	0.40923	D	0.984328	D;P;D;P	0.61080	0.986;0.811;0.989;0.811	B;B;B;B	0.42827	0.277;0.133;0.399;0.133	T	0.58142	-0.7688	10	0.25751	T	0.34	-33.6444	10.5332	0.44988	0.0:0.9104:0.0:0.0896	.	532;511;532;592	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	Q	592;511;532	ENSP00000355330:R592Q;ENSP00000444701:R511Q;ENSP00000437479:R532Q	ENSP00000355330:R592Q	R	-	2	0	TGM2	36194157	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.025000	0.57225	2.287000	0.76781	0.549000	0.68633	CGG	C|1.000;T|0.000		0.622	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	Missense_Mutation	T	36760743	C	T	36760743	5	4	33	1	0	0	0	0	0	0	1	0	15877	666	23	1	300	1	TGM2	20	36760743	Splice_Site	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	1338725	36760743	26264777	134	8352											
MAFB	9935	hgsc.bcm.edu	37	chr20	39317483	39317483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccccatgctcagctccGcggccatcgctgaagcgagg	13	16	1	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:39317483G>T	ENST00000373313.2	-	1	397	c.8C>A	c.(7-9)gCg>gAg	p.A3E	MAFB_ENST00000396967.1_Missense_Mutation_p.A3E	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	3					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCTCAGCTCCGCGGCCATCGC	0.687			T	IGH@	MM																																p.A3E		.		Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	.	MAFB-846	0			c.C8A						.						18	21	20					20																	39317483		2182	4234	6416	SO:0001583	missense	9935	exon1			AGCTCCGCGGCCA	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"Kreisler (mouse) maf-related leucine zipper homolog"	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.8C>A	20.37:g.39317483G>T	ENSP00000362410:p.Ala3Glu	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	66	4	NM_005461	0	0	0	0	0	B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550257	0.45383	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.97831	-4.56;-4.56	4.24	3.23	0.37069	.	0.757532	0.11913	N	0.517460	D	0.95868	0.8655	L	0.56769	1.78	0.34618	D	0.718341	P	0.35401	0.499	B	0.34138	0.176	D	0.98419	1.0576	10	0.72032	D	0.01	-11.6413	10.9805	0.47490	0.0:0.4158:0.5842:0.0	.	3	Q9Y5Q3	MAFB_HUMAN	E	3	ENSP00000362410:A3E;ENSP00000380167:A3E	ENSP00000362410:A3E	A	-	2	0	MAFB	38750897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.628000	0.54259	2.207000	0.71202	0.450000	0.29827	GCG	.		0.687	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			T	39317483	G	T	39317483	3	4	33	1	0	0	0	0	1	0	0	0	9194	1087	38	2	967	2	MAFB	20	39317483	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	2556740	39317483	23708037	135	8353											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_052951	0	0	0	0	0	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	33	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	5103199	44420682	18604838	136	8354											
ZMYND8	23613	ucsc.edu	37	chr20	45867852	45867852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggagaatggctgcccAccgtcgtggatggtggagtt	18	9	0	1	rs2275801	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:45867852A>G	ENST00000311275.7	-	15	2508	c.2255T>C	c.(2254-2256)gTg>gCg	p.V752A	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V772A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V689A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V747A|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V779A|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V772A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V752A|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V700A|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V752A|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V772A|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V747A|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V752A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	752			V -> A (in dbSNP:rs2275801). {ECO:0000269|Ref.3}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATGGCTGCCCACCGTCGTGGA	0.572													G|||	1640	0.327476	0.6399	0.1772	5008	,	,		16000	0.247		0.0557	False		,,,				2504	0.3742				p.V772A		.											.	ZMYND8-252	0			c.T2315C						.	G	ALA/VAL,ALA/VAL,ALA/VAL	2358,2048	539.8+/-375.3	632,1094,477	60	75	70		2315,2315,2240	5.4	0	20	dbSNP_100	70	570,8030	771.2+/-407.7	27,516,3757	yes	missense,missense,missense	ZMYND8	NM_012408.3,NM_183047.1,NM_183048.1	64,64,64	659,1610,4234	GG,GA,AA		6.6279,46.4821,22.5127	benign,benign,benign	772/1161,772/1189,747/1136	45867852	2928,10078	2203	4300	6503	SO:0001583	missense	23613	exon15			CTGCCCACCGTCG	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2255T>C	20.37:g.45867852A>G	ENSP00000312237:p.Val752Ala	Somatic	16	3		WXS	Illumina GAIIx	Phase_I	51	15	NM_183047	0	0	0	0	0	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		555	0.2541208791208791	313	0.6361788617886179	60	0.16574585635359115	146	0.25524475524475526	36	0.047493403693931395	G	0.089	-1.169650	0.01660	0.535179	0.066279	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.38	5.38	0.77491	.	0.922586	0.09196	N	0.835269	T	0.00012	0.0000	N	0.00621	-1.32	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.001;0.001;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44697	-0.9311	9	0.02654	T	1	-18.1125	11.426	0.50012	0.1451:0.0:0.8549:0.0	rs2275801;rs52806673;rs60735070;rs2275801	779;747;747;727;746;772;752;747;772;772;752;689;747;700;700;752	F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	A	747;752;753;773;772;752;779;752;689;772;747;700	ENSP00000354166:V747A;ENSP00000312237:V752A;ENSP00000335537:V772A;ENSP00000379577:V752A;ENSP00000439800:V779A;ENSP00000348246:V752A;ENSP00000396725:V689A;ENSP00000418210:V772A;ENSP00000361093:V747A;ENSP00000443086:V700A	ENSP00000262975:V753A	V	-	2	0	ZMYND8	45301259	0.250000	0.23951	0.029000	0.17559	0.155000	0.21991	3.397000	0.52572	1.274000	0.44362	-0.186000	0.12905	GTG	A|0.741;C|0.002		0.572	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		G	45867852	A	G	45867852	3	3	33	1	0	0	0	0	1	0	0	0	17759	159	6	4	1287	4	ZMYND8	20	45867852	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	1447170	45867852	17157668	137	8355											
ZBP1	81030	broad.mit.edu	37	chr20	56188152	56188152	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatccctaccctttgCccccacccagaggatccggt	6	21	0	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr20:56188152C>A	ENST00000371173.3	-	5	848				ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000343535.4_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.G246V|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000395822.3_Intron	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1						innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTACCCTTTGCCCCCACCCAG	0.612																																					p.G246V		.											.	ZBP1-228	0			c.G737T						.						39	35	37					20																	56188152		692	1591	2283	SO:0001627	intron_variant	81030	exon5			CCTTTGCCCCCAC	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.670+66G>T	20.37:g.56188152C>A		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	22	4	NM_001160419	0	0	0	0	0	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	3.549	-0.092052	0.07053	.	.	ENSG00000124256	ENST00000541799	T	0.13657	2.57	2.73	0.703	0.18116	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	D	0.64877	0.93	T	0.16305	-1.0407	9	0.87932	D	0	.	3.1902	0.06614	0.2606:0.5919:0.0:0.1475	.	246	F5GYT1	.	V	246	ENSP00000440552:G246V	ENSP00000440552:G246V	G	-	2	0	ZBP1	55621558	0.000000	0.05858	0.015000	0.15790	0.087000	0.18053	-0.070000	0.11523	0.224000	0.20940	0.462000	0.41574	GGC	.		0.612	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		A	56188152	C	A	56188152	1	1	33	0	1	0	0	0	0	0	0	0	17569	739	26	3		3	ZBP1	20	56188152	Intron	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	10320300	56188152	6837368	138	8356											
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	36	7	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	33	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5KP-01A-11D-A30A-10		21343966	29960600	139	8357											
HIC2	23119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	21800327	21800327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcatcctggctagtggGgctggccctagcgggcccta	15	12	0	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:21800327G>A	ENST00000443632.2	+	2	1515	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	HIC2_ENST00000407598.2_Silent_p.G381G|HIC2_ENST00000407464.2_Silent_p.G381G			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	381					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGGCTAGTGGGGCTGGCCCTA	0.677																																					p.G381G	NSCLC(23;437 858 2282 27947 40366)	.											.	HIC2-703	0			c.G1143A						.						6	8	8					22																	21800327		2063	4054	6117	SO:0001819	synonymous_variant	23119	exon3			TAGTGGGGCTGGC	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1143G>A	22.37:g.21800327G>A		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	19	5	NM_015094	0	0	0	0	0	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	CCDS13789.1																																																																																			.		0.677	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			A	21800327	G	A	21800327	2	1	33	1	0	0	0	0	0	0	0	1	7129	1219	43	3		3	HIC2	22	21800327	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	456361	21800327	29504239	140	8358											
CABIN1	23523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	24487724	24487724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctggccactacctgcAcgaggaggctgcccgctacc	13	16	0	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:24487724A>G	ENST00000398319.2	+	24	4098	c.3713A>G	c.(3712-3714)cAc>cGc	p.H1238R	CABIN1_ENST00000405822.2_Missense_Mutation_p.H1188R|CABIN1_ENST00000263119.5_Missense_Mutation_p.H1238R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1238					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						CACTACCTGCACGAGGAGGCT	0.632																																					p.H1238R		.											.	CABIN1-94	0			c.A3713G						.						75	64	68					22																	24487724		2203	4300	6503	SO:0001583	missense	23523	exon24			ACCTGCACGAGGA	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.3713A>G	22.37:g.24487724A>G	ENSP00000381364:p.His1238Arg	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	195	38	NM_001199281	0	0	0	0	0	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402671	0.62288	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.30182	1.54;1.54;1.54	5.04	5.04	0.67666	Tetratricopeptide-like helical (1);	0.052924	0.85682	D	0.000000	T	0.33990	0.0882	M	0.63843	1.955	0.80722	D	1	B;B	0.18461	0.028;0.016	B;B	0.18561	0.022;0.01	T	0.18650	-1.0330	10	0.72032	D	0.01	.	14.3245	0.66509	1.0:0.0:0.0:0.0	.	1188;1238	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	R	1238;1188;1238	ENSP00000263119:H1238R;ENSP00000384694:H1188R;ENSP00000381364:H1238R	ENSP00000263119:H1238R	H	+	2	0	CABIN1	22817724	1.000000	0.71417	0.977000	0.42913	0.849000	0.48306	9.233000	0.95337	2.048000	0.60808	0.477000	0.44152	CAC	.		0.632	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		G	24487724	A	G	24487724	3	3	33	1	0	0	0	0	1	0	0	0	2535	159	6	4	3803	4	CABIN1	22	24487724	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	2687397	24487724	26816842	141	8359											
SEZ6L	23544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	26707835	26707835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatagtggagttcacctgcGaccccggccactccctggag	11	15	1	0			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:26707835G>A	ENST00000248933.6	+	8	1878	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	SEZ6L_ENST00000402979.1_Missense_Mutation_p.D368N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D595N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D595N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D595N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D368N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.D595N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	595	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTTCACCTGCGACCCCGGCCA	0.562																																					p.D595N		.											.	SEZ6L-95	0			c.G1783A						.						158	155	156					22																	26707835		2203	4300	6503	SO:0001583	missense	23544	exon8			ACCTGCGACCCCG	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1783G>A	22.37:g.26707835G>A	ENSP00000248933:p.Asp595Asn	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	118	33	NM_021115	0	0	0	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860882	0.71834	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000013	T	0.61825	0.2378	N	0.11313	0.125	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.982;0.996;0.994;0.992;0.992	D;P;P;P;P;P;P	0.91635	0.999;0.599;0.514;0.614;0.614;0.599;0.599	T	0.59685	-0.7408	10	0.17369	T	0.5	.	17.0892	0.86618	0.0:0.0:1.0:0.0	.	595;595;368;595;595;595;595	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	N	595;595;595;595;595;368;368	ENSP00000384772:D595N;ENSP00000437037:D595N;ENSP00000354185:D595N;ENSP00000248933:D595N;ENSP00000342661:D595N;ENSP00000384838:D368N;ENSP00000384733:D368N	ENSP00000248933:D595N	D	+	1	0	SEZ6L	25037835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.044000	0.71012	2.498000	0.84270	0.563000	0.77884	GAC	.		0.562	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26707835	G	A	26707835	3	1	33	1	0	0	0	0	1	0	0	0	14188	1058	37	1	1813	1	SEZ6L	22	26707835	Missense_Mutation	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	2220111	26707835	24596731	142	8360											
NEFH	4744	ucsc.edu	37	chr22	29885594	29885594	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	13	11	0	3	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																					p.P655P		.											.	NEFH-90	0			c.A1965T						.						83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GTCCCCAGAGAAG		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.1965A>T	22.37:g.29885594A>T		Somatic	235	1		WXS	Illumina GAIIx	Phase_I	200	60	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			A|0.500;T|0.500		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	33	1	0	0	0	0	0	0	0	1	10353	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	3177759	29885594	21418972	143	8361											
NEFH	4744	broad.mit.edu	37	chr22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG													agaggccaagtcccctgagaINSaggccaagtccccagtgaag					rs267607534|rs267607535		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:29885622_29885623insAGGAAG	ENST00000310624.6	+	4	2026_2027	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	671	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						GTCCCCTGAGAAGGCCAAGTCC	0.579																																					p.K665delinsKEE		.											.	NEFH-90	0			c.1993_1994insAGGAAG						.																																			SO:0001652	inframe_insertion	4744	exon4			CCTGAGAAGGCCA		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	Exception_encountered	22.37:g.29885622_29885623insAGGAAG	ENSP00000311997:p.Lys665_Ala666insGluGlu	Somatic	313	0		WXS	Illumina GAIIx	Phase_I	258	9	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.579	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGGAAG	29885623	-	AGGAAG	29885622	7	5	33	1	0	1	1	0	0	0	0	0	10353	247	9	0	2007	0	NEFH	22	29885622	In_Frame_Ins	INS	-	TCGA-OR-A5KP-01A-11D-A30A-10	28	29885622	21418944	144	8362											
TOM1	10043	ucsc.edu	37	chr22	35742925	35742925	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctaccttcccagggTaatgatgcggaagagcctaa	9	11	1	2	rs743810	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:35742925T>G	ENST00000449058.2	+	14	1412	c.1287T>G	c.(1285-1287)ggT>ggG	p.G429G	TOM1_ENST00000447733.1_Silent_p.G396G|TOM1_ENST00000436462.2_Silent_p.G391G|TOM1_ENST00000425375.1_Silent_p.G384G|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Silent_p.G429G	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	429					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.G429G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTTCCCAGGGTAATGATGCGG	0.662													G|||	1757	0.350839	0.6959	0.3458	5008	,	,		14387	0.12		0.2266	False		,,,				2504	0.2536				p.G429G		.											.	TOM1-91	1	Substitution - coding silent(1)	prostate(1)	c.T1287G						.	G	,,,	2618,1788	523.1+/-371.0	783,1052,368	65	73	70		1188,1152,1287,1287	-3.6	0	22	dbSNP_86	70	2064,6536	714.8+/-406.0	236,1592,2472	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOM1	NM_001135729.1,NM_001135730.1,NM_001135732.1,NM_005488.2	,,,	1019,2644,2840	GG,GT,TT		24.0,40.581,35.9988	,,,	396/461,384/448,429/494,429/493	35742925	4682,8324	2203	4300	6503	SO:0001819	synonymous_variant	10043	exon14			CCAGGGTAATGAT	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1287T>G	22.37:g.35742925T>G		Somatic	65	3		WXS	Illumina GAIIx	Phase_I	48	5	NM_001135732	0	0	0	0	0	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1																																																																																			T|0.655;G|0.345		0.662	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		G	35742925	T	G	35742925	2	3	33	1	0	0	0	0	0	0	0	1	16398	1625	57	5		5	TOM1	22	35742925	Silent	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	5857303	35742925	15561641	145	8363											
CARD10	29775	hgsc.bcm.edu	37	chr22	37915145	37915145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgcgtcctcctccgcCtcagaccccgagccggcccc	9	23	1	1	rs79861380	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:37915145C>T	ENST00000403299.1	-	2	279	c.63G>A	c.(61-63)gaG>gaA	p.E21E	CARD10_ENST00000251973.5_Silent_p.E21E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	21					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)					cctcctccgcctcagaccccg	0.756													C|||	295	0.0589058	0.1573	0.0548	5008	,	,		9486	0		0.0398	False		,,,				2504	0.0092				p.E21E		.											.	CARD10-662	0			c.G63A						.	C		625,3669		33,559,1555	8	9	9		63	3.9	1	22	dbSNP_131	9	324,8168		4,316,3926	no	coding-synonymous	CARD10	NM_014550.3		37,875,5481	TT,TC,CC		3.8154,14.5552,7.4222		21/1033	37915145	949,11837	2147	4246	6393	SO:0001819	synonymous_variant	29775	exon1			CTCCGCCTCAGAC	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.63G>A	22.37:g.37915145C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	42	6	NM_014550	0	0	0	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																			C|0.935;T|0.065		0.756	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37915145	C	T	37915145	2	4	33	1	0	0	0	0	0	0	0	1	2651	680	24	3		3	CARD10	22	37915145	Silent	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	2172220	37915145	13389421	146	8364											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	33	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	207317	38122462	13182104	147	8365											
PANX2	56666	broad.mit.edu	37	chr22	50617594	50617595	+	Frame_Shift_Ins	INS	-	-	C													cgggaggaggaggacgggggINScccccgcctgccgcaggacg					rs376326556		TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chr22:50617594_50617595insC	ENST00000395842.2	+	3	1922_1923	c.1922_1923insC	c.(1921-1926)ggccccfs	p.GP641fs	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	641					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGACGGGGGCCCCCGCCTGC	0.678																																					p.G641fs		.											.	PANX2-131	0			c.1922_1923insC						.																																			SO:0001589	frameshift_variant	56666	exon3			ACGGGGGCCCCCG		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1927dupC	22.37:g.50617599_50617599dupC	ENSP00000379183:p.Gly641fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	174	13	NM_052839	0	0	0	0	0	B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Ins	INS	ENST00000395842.2	37	CCDS14085.2																																																																																			.		0.678	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		C	50617595	-	C	50617594	7	5	33	1	0	1	1	0	0	0	0	0	11460	1203	42	0	1932	0	PANX2	22	50617594	Frame_Shift_Ins	INS	-	TCGA-OR-A5KP-01A-11D-A30A-10	12495132	50617594	686972	148	8366											
SAT1	6303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23803894	23803894	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctataaaagaagaggtgcttCtgatctgtccagtgaagagg	12	6	2	5			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:23803894C>T	ENST00000379270.4	+	6	616	c.437C>T	c.(436-438)tCt>tTt	p.S146F	SAT1_ENST00000489394.1_3'UTR|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Missense_Mutation_p.S118F	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						AGAGGTGCTTCTGATCTGTCC	0.453																																					p.S146F		.											.	SAT1-554	0			c.C437T						.						91	80	84					X																	23803894		2203	4300	6503	SO:0001583	missense	6303	exon6			GTGCTTCTGATCT	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 1"	313020	"spermidine/spermine N1-acetyltransferase"	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.437C>T	X.37:g.23803894C>T	ENSP00000368572:p.Ser146Phe	Somatic	332	0		WXS	Illumina GAIIx	Phase_I	301	63	NM_002970	0	0	0	0	0	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000379270.4	37	CCDS14207.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079029	0.36662	.	.	ENSG00000130066	ENST00000379270;ENST00000379254;ENST00000342463	T;T	0.43688	0.94;0.94	5.81	4.94	0.65067	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.272836	0.36932	N	0.002324	T	0.48259	0.1490	M	0.66378	2.025	0.53688	D	0.999974	P	0.35328	0.495	B	0.39379	0.298	T	0.49532	-0.8930	10	0.54805	T	0.06	-10.5477	15.8989	0.79356	0.0:0.8681:0.1319:0.0	.	146	P21673	SAT1_HUMAN	F	146;118;174	ENSP00000368572:S146F;ENSP00000368556:S118F	ENSP00000343343:S174F	S	+	2	0	SAT1	23713815	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.747000	0.62141	1.179000	0.42884	0.594000	0.82650	TCT	.		0.453	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		T	23803894	C	T	23803894	3	4	33	1	0	0	0	0	1	0	0	0	13896	913	32	3	459	3	SAT1	23	23803894	Missense_Mutation	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10		23803894	131466666	149	8367											
ZDHHC15	158866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	74649034	74649034	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atccaatgcagttattaaccCtaaaaaaaaagaaaaactaa	3	7	0	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:74649034C>G	ENST00000373367.3	-	7	713		c.e7-1		ZDHHC15_ENST00000541184.1_Splice_Site|ZDHHC15_ENST00000373361.3_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15						establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GTTATTAACCCTAAAAAAAAA	0.368																																					.		.											.	ZDHHC15-132	0			c.456-1G>C						.						66	65	66					X																	74649034		2202	4300	6502	SO:0001630	splice_region_variant	158866	exon7			TTAACCCTAAAAA	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.483-1G>C	X.37:g.74649034C>G		Somatic	187	0		WXS	Illumina GAIIx	Phase_I	201	31	NM_001146256	0	0	0	0	0	B3KVG7|Q3SY30|Q6UWH3	Splice_Site	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838863	0.71373	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.758	0.78051	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZDHHC15	74565759	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.075000	0.76798	2.260000	0.74910	0.600000	0.82982	.	.		0.368	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	Intron	G	74649034	C	G	74649034	5	3	33	1	0	0	0	0	0	0	1	0	17653	695	24	3	551	3	ZDHHC15	23	74649034	Splice_Site	SNP	C	TCGA-OR-A5KP-01A-11D-A30A-10	50845140	74649034	80621526	150	8368											
CENPI	2491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	100400095	100400095	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaactctgtgtctaaactGatccactatgtagggtggct	10	8	2	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:100400095G>A	ENST00000372927.1	+	16	1885	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L	CENPI_ENST00000218507.5_Silent_p.L536L|CENPI_ENST00000423383.1_Silent_p.L536L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	536					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGTCTAAACTGATCCACTATG	0.398																																					p.L536L		.											.	CENPI-130	0			c.G1608A						.						201	172	182					X																	100400095		2203	4300	6503	SO:0001819	synonymous_variant	2491	exon16			TAAACTGATCCAC	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1608G>A	X.37:g.100400095G>A		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	98	25	NM_006733	0	0	0	0	0	Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	CCDS14479.1																																																																																			.		0.398	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		A	100400095	G	A	100400095	2	1	33	1	0	0	0	0	0	0	0	1	3240	1277	45	3		3	CENPI	23	100400095	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	25751061	100400095	54870465	151	8369											
TAF7L	54457	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	100542523	100542523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaacttcatcctggctTtcactcatgtcttgattttg	7	10	5	1			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:100542523T>G	ENST00000372907.3	-	2	278	c.267A>C	c.(265-267)gaA>gaC	p.E89D	TAF7L_ENST00000324762.6_Missense_Mutation_p.E3D|TAF7L_ENST00000372905.2_Missense_Mutation_p.E3D|TAF7L_ENST00000356784.1_Missense_Mutation_p.E3D|Y_RNA_ENST00000410271.1_RNA	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	89					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CATCCTGGCTTTCACTCATGT	0.388																																					p.E89D	Ovarian(104;431 1530 3210 15406 18594)	.											.	TAF7L-130	0			c.A267C						.						79	66	71					X																	100542523		2203	4300	6503	SO:0001583	missense	54457	exon2			CTGGCTTTCACTC	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.267A>C	X.37:g.100542523T>G	ENSP00000361998:p.Glu89Asp	Somatic	439	2		WXS	Illumina GAIIx	Phase_I	422	77	NM_024885	0	0	0	0	0	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	7.994	0.754020	0.15778	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.23348	2.52;1.91;1.91;1.91	5.06	1.28	0.21552	.	1.018710	0.07862	N	0.966424	T	0.14184	0.0343	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.039;0.016	B;B	0.14023	0.01;0.009	T	0.31223	-0.9951	10	0.87932	D	0	-0.0719	3.5939	0.07998	0.0:0.4528:0.238:0.3093	.	89;3	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	D	89;3;3;3	ENSP00000361998:E89D;ENSP00000361996:E3D;ENSP00000320283:E3D;ENSP00000349235:E3D	ENSP00000320283:E3D	E	-	3	2	TAF7L	100429179	1.000000	0.71417	0.000000	0.03702	0.188000	0.23474	2.246000	0.43142	0.150000	0.19136	0.381000	0.24937	GAA	.		0.388	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			G	100542523	T	G	100542523	3	3	33	1	0	0	0	0	1	0	0	0	15580	1838	64	5	1169	5	TAF7L	23	100542523	Missense_Mutation	SNP	T	TCGA-OR-A5KP-01A-11D-A30A-10	142428	100542523	54728037	152	8370											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105142618	105142618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagcagaactaatggaAgaaggaatagtttcattggg	14	3	1	3			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:105142618A>G	ENST00000243300.9	+	8	925	c.622A>G	c.(622-624)Aga>Gga	p.R208G	NRK_ENST00000428173.2_Missense_Mutation_p.R208G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AACTAATGGAAGAAGGAATAG	0.408										HNSCC(51;0.14)																											p.R208G		.											.	NRK-630	0			c.A622G						.						107	95	99					X																	105142618		1932	4119	6051	SO:0001583	missense	203447	exon8			AATGGAAGAAGGA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.622A>G	X.37:g.105142618A>G	ENSP00000434830:p.Arg208Gly	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	131	28	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	15.57	2.871654	0.51695	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.66099	-0.19;-0.19	5.77	3.3	0.37823	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	0.48767	D	0.000176	T	0.70815	0.3267	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69577	-0.5108	10	0.87932	D	0	.	10.3349	0.43844	0.687:0.313:0.0:0.0	.	208	Q7Z2Y5	NRK_HUMAN	G	208	ENSP00000434830:R208G;ENSP00000438378:R208G	ENSP00000434830:R208G	R	+	1	2	NRK	105029274	0.952000	0.32445	0.998000	0.56505	0.978000	0.69477	1.925000	0.40074	0.266000	0.21894	0.481000	0.45027	AGA	.		0.408	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105142618	A	G	105142618	3	3	33	1	0	0	0	0	1	0	0	0	10694	64	3	4	652	4	NRK	23	105142618	Missense_Mutation	SNP	A	TCGA-OR-A5KP-01A-11D-A30A-10	4600095	105142618	50127942	153	8371											
SAGE1	55511	broad.mit.edu;ucsc.edu	37	chrX	134994108	134994108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagttcgaaggtttggGcaaagtaagtactgcaagaa	12	4	0	2			TCGA-OR-A5KP-01A-11D-A30A-10	TCGA-OR-A5KP-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f7581f1a-8a04-483a-a296-93bb72f8770d	c7c571ba-879c-4164-a608-bdbeeec0b9ee	g.chrX:134994108G>A	ENST00000370709.3	+	17	2517	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	SAGE1_ENST00000324447.3_Silent_p.G839G|SAGE1_ENST00000537770.1_Silent_p.G463G|SAGE1_ENST00000535938.1_Silent_p.G839G			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	839						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)					GAAGGTTTGGGCAAAGTAAGT	0.353																																					p.G839G		.											.	SAGE1-133	0			c.G2517A						.						38	39	39					X																	134994108		2199	4294	6493	SO:0001819	synonymous_variant	55511	exon18			GTTTGGGCAAAGT	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.2517G>A	X.37:g.134994108G>A		Somatic	62	1		WXS	Illumina GAIIx	Phase_I	66	6	NM_018666	0	0	0	0	0	Q5JNW0	Silent	SNP	ENST00000370709.3	37	CCDS14652.1																																																																																			.		0.353	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		A	134994108	G	A	134994108	2	1	33	1	0	0	0	0	0	0	0	1	13854	1190	42	3		3	SAGE1	23	134994108	Silent	SNP	G	TCGA-OR-A5KP-01A-11D-A30A-10	29851490	134994108	20276452	154	8372											
MMEL1	79258	bcgsc.ca	37	chr1	2541269	2541269	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttctggaggatcctggcAgctgctcgtccccatggcgt	13	12	1	0	rs10797440	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:2541269A>G	ENST00000378412.3	-	5	455	c.294T>C	c.(292-294)gcT>gcC	p.A98A	MMEL1_ENST00000502556.1_Splice_Site_p.A98A|MMEL1_ENST00000288709.6_Splice_Site_p.A89A			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	98						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)		GGATCCTGGCAGCTGCTCGTC	0.627													g|||	2662	0.53155	0.7027	0.4885	5008	,	,		18168	0.5357		0.33	False		,,,				2504	0.5337				p.A98A		.											.	MMEL1-90	0			c.T294C						.	G		2887,1519		947,993,263	75	62	66		294	-3	0.8	1	dbSNP_120	66	2852,5748		475,1902,1923	yes	coding-synonymous-near-splice	MMEL1	NM_033467.3		1422,2895,2186	GG,GA,AA		33.1628,34.4757,44.1258		98/780	2541269	5739,7267	2203	4300	6503	SO:0001630	splice_region_variant	79258	exon5			CCTGGCAGCTGCT	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.293-1T>C	1.37:g.2541269A>G		Somatic	168	2		WXS	Illumina GAIIx	Phase_I	133	6	NM_033467	0	0	0	0	0	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																			A|0.542;G|0.458		0.627	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	Silent	G	2541269	A	G	2541269	5	3	34	1	0	0	0	0	0	0	1	0	9684	202	7	4	2125	4	MMEL1	1	2541269	Splice_Site	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10		2541269	246709352	1	8373											
TNFRSF25	8718	hgsc.bcm.edu	37	chr1	6521701	6521701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagcgtgcgcacgaaCtccttccagcgccgcgctgg	12	18	0	0	rs149595085	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:6521701C>T	ENST00000356876.3	-	10	1134	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TNFRSF25_ENST00000348333.3_Silent_p.E304E|TNFRSF25_ENST00000351959.5_Silent_p.E312E|TNFRSF25_ENST00000351748.3_Silent_p.E166E|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000377782.3_Silent_p.E358E	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	349	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TGCGCACGAACTCCTTCCAGC	0.687													.|||	2	0.000399361	0	0	5008	,	,		15403	0		0.002	False		,,,				2504	0				p.E358E		.											.	TNFRSF25-714	0			c.G1074A						.	C	,,,,	0,4404		0,0,2202	18	19	19		1047,1074,936,912,498	4.2	1	1	dbSNP_134	19	9,8587		0,9,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNFRSF25	NM_003790.2,NM_148965.1,NM_148966.1,NM_148967.1,NM_148970.1	,,,,	0,9,6491	TT,TC,CC		0.1047,0.0,0.0692	,,,,	349/418,358/427,312/381,304/373,166/235	6521701	9,12991	2202	4298	6500	SO:0001819	synonymous_variant	8718	exon10			CACGAACTCCTTC	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1047G>A	1.37:g.6521701C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	37	35	NM_148965	0	0	0	0	0	B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	CCDS71.1																																																																																			C|0.999;T|0.001		0.687	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		T	6521701	C	T	6521701	2	4	34	1	0	0	0	0	0	0	0	1	16343	564	20	3		3	TNFRSF25	1	6521701	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	3980432	6521701	242728920	2	8374											
CROCC	9696	hgsc.bcm.edu	37	chr1	17266514	17266514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcgggacaagaccgaCggcgccatgcaggcccacga	14	16	0	1	rs141271666	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:17266514C>T	ENST00000375541.5	+	13	1803	c.1734C>T	c.(1732-1734)gaC>gaT	p.D578D	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAAGACCGACGGCGCCATGC	0.716													c|||	11	0.00219649	0	0	5008	,	,		18874	0.004		0.006	False		,,,				2504	0.001				p.D578D		.											.	CROCC-137	0			c.C1734T						.	T		9,4395		0,9,2193	25	25	25		1734	-10	0	1	dbSNP_134	25	54,8526		0,54,4236	no	coding-synonymous	CROCC	NM_014675.3		0,63,6429	TT,TC,CC		0.6294,0.2044,0.4852		578/2018	17266514	63,12921	2202	4290	6492	SO:0001819	synonymous_variant	9696	exon13			GACCGACGGCGCC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1734C>T	1.37:g.17266514C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	48	4	NM_014675	0	0	0	0	0		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																			C|0.995;T|0.005		0.716	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17266514	C	T	17266514	2	4	34	1	0	0	0	0	0	0	0	1	3900	535	19	1		1	CROCC	1	17266514	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	10744813	17266514	231984107	3	8375											
RPA2	6118	broad.mit.edu;bcgsc.ca	37	chr1	28240630	28240630	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagccccccggggactgcgTgtagccgccggctcccccgt	13	18	0	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:28240630T>G	ENST00000373912.3	-	2	360	c.61A>C	c.(61-63)Acg>Ccg	p.T21P	RPA2_ENST00000373909.3_Missense_Mutation_p.T29P|RPA2_ENST00000313433.7_Missense_Mutation_p.T109P	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	21	Gly/Ser-rich.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGACTGCGTGTAGCCGCCG	0.537								Direct reversal of damage;Nucleotide excision repair (NER)																													p.T21P		.											.	RPA2-228	0			c.A61C						.						42	51	48					1																	28240630		2203	4300	6503	SO:0001583	missense	6118	exon2			ACTGCGTGTAGCC	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.61A>C	1.37:g.28240630T>G	ENSP00000363021:p.Thr21Pro	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	94	5	NM_002946	0	0	0	0	0	Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	CCDS314.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096389	0.76870	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.24350	2.18;2.17;2.13;1.86	4.6	3.45	0.39498	.	0.048629	0.85682	D	0.000000	T	0.38639	0.1048	L	0.58101	1.795	0.44000	D	0.996702	B;D	0.61080	0.001;0.989	B;P	0.58454	0.0;0.839	T	0.07195	-1.0785	10	0.41790	T	0.15	-5.3297	10.6736	0.45772	0.0:0.0:0.1611:0.8389	.	21;29	P15927;P15927-2	RFA2_HUMAN;.	P	21;29;109;25	ENSP00000363021:T21P;ENSP00000363017:T29P;ENSP00000363015:T109P;ENSP00000387649:T25P	ENSP00000363015:T109P	T	-	1	0	RPA2	28113217	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.798000	0.47884	0.694000	0.31654	0.459000	0.35465	ACG	.		0.537	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		G	28240630	T	G	28240630	3	3	34	1	0	0	0	0	1	0	0	0	13582	1696	59	5	783	5	RPA2	1	28240630	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	10974116	28240630	221009991	4	8376											
DMAP1	55929	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr1	44684101	44684101	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgctttgacctgcgttTtgttgttatccatgaccggt	10	12	0	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:44684101T>G	ENST00000372289.2	+	4	775	c.512T>G	c.(511-513)tTt>tGt	p.F171C	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Missense_Mutation_p.F171C|DMAP1_ENST00000315913.5_Missense_Mutation_p.F171C	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	171	SANT.			F -> L (in Ref. 10; CAD97886). {ECO:0000305}.	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)					GACCTGCGTTTTGTTGTTATC	0.512											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F171C		.											.	DMAP1-226	0			c.T512G						.						166	138	147					1																	44684101		2203	4300	6503	SO:0001583	missense	55929	exon5			TGCGTTTTGTTGT	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.512T>G	1.37:g.44684101T>G	ENSP00000361363:p.Phe171Cys	Somatic	238	2	925	WXS	Illumina GAIIx	Phase_I	243	220	NM_001034024	0	0	0	0	0	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592618	0.86953	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	.	.	.	5.26	5.26	0.73747	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	D	0.87399	0.2368	9	0.87932	D	0	-15.9291	15.3401	0.74290	0.0:0.0:0.0:1.0	.	161;171	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	C	171;171;197;171;197;171;171;132	.	ENSP00000312697:F171C	F	+	2	0	DMAP1	44456688	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.490000	0.81461	2.208000	0.71279	0.533000	0.62120	TTT	.		0.512	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		G	44684101	T	G	44684101	3	3	34	1	0	0	0	0	1	0	0	0	4590	1841	64	5	526	5	DMAP1	1	44684101	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	16443471	44684101	204566520	5	8377											
TCTEX1D4	343521	hgsc.bcm.edu	37	chr1	45271828	45271828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcaccacactgcaTaccagcttgtagcgtggcgg	12	15	0	0	rs17885815	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6	9	8		513	5.5	1	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001013632	0	0	0	0	0		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		C	45271828	T	C	45271828	2	2	34	1	0	0	0	0	0	0	0	1	15768	1393	49	4		4	TCTEX1D4	1	45271828	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	587727	45271828	203978793	6	8378											
RAD54L	8438	bcgsc.ca	37	chr1	46743900	46743900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatgctgcctccactgcCatcaccttcgtcttccacca	7	17	2	0	rs1048771	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:46743900C>T	ENST00000371975.4	+	18	2864	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	RAD54L_ENST00000442598.1_Silent_p.A730A|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	730					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)		CCTCCACTGCCATCACCTTCG	0.592								Direct reversal of damage;Homologous recombination					C|||	930	0.185703	0.0257	0.1167	5008	,	,		16392	0.2768		0.1382	False		,,,				2504	0.4059				p.A730A		.											.	RAD54L-229	0			c.C2190T						.	C	,	190,4216	120.4+/-158.0	4,182,2017	36	35	35		2190,2190	1.5	1	1	dbSNP_86	35	1045,7555	218.0+/-256.5	56,933,3311	no	coding-synonymous,coding-synonymous	RAD54L	NM_001142548.1,NM_003579.3	,	60,1115,5328	TT,TC,CC		12.1512,4.3123,9.4956	,	730/748,730/748	46743900	1235,11771	2203	4300	6503	SO:0001819	synonymous_variant	8438	exon18			CACTGCCATCACC	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.2190C>T	1.37:g.46743900C>T		Somatic	155	1		WXS	Illumina GAIIx	Phase_I	119	5	NM_003579	0	0	0	0	0	Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	CCDS532.1																																																																																			C|0.877;T|0.123		0.592	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		T	46743900	C	T	46743900	2	4	34	1	0	0	0	0	0	0	0	1	13038	581	21	3		3	RAD54L	1	46743900	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	1472072	46743900	202506721	7	8379											
INADL	10207	bcgsc.ca	37	chr1	62261168	62261168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggatttatgtgaaaagtAtaatacctggcagtgctgcg	12	6	0	1	rs7516332	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:62261168A>G	ENST00000371158.2	+	10	1312	c.1198A>G	c.(1198-1200)Ata>Gta	p.I400V	INADL_ENST00000316485.6_Missense_Mutation_p.I400V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	400	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.		I -> V (in dbSNP:rs7516332).		cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.I400V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGAAAAGTATAATACCTGG	0.383													A|||	2178	0.434904	0.1808	0.5634	5008	,	,		17382	0.4514		0.493	False		,,,				2504	0.6104				p.I400V		.											.	INADL-94	1	Substitution - Missense(1)	prostate(1)	c.A1198G						.	A	VAL/ILE	1074,3332	387.2+/-326.4	136,802,1265	118	106	110		1198	-3.3	0.2	1	dbSNP_116	110	4169,4431	566.8+/-388.7	1023,2123,1154	yes	missense	INADL	NM_176877.2	29	1159,2925,2419	GG,GA,AA		48.4767,24.3759,40.3122	benign	400/1802	62261168	5243,7763	2203	4300	6503	SO:0001583	missense	10207	exon10			AAAAGTATAATAC	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.1198A>G	1.37:g.62261168A>G	ENSP00000360200:p.Ile400Val	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_176877	0	0	0	0	0	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	924	0.4230769230769231	122	0.24796747967479674	206	0.569060773480663	234	0.4090909090909091	362	0.47757255936675463	A	8.454	0.853778	0.17106	0.243759	0.484767	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14266	2.52;2.52	5.29	-3.27	0.05048	PDZ/DHR/GLGF (4);	0.406531	0.24115	N	0.041412	T	0.00012	0.0000	N	0.13003	0.285	0.09310	P	0.9999999999995363	B;B;B	0.15473	0.013;0.008;0.008	B;B;B	0.21360	0.034;0.019;0.034	T	0.37619	-0.9698	9	0.21540	T	0.41	.	4.4158	0.11455	0.5466:0.0:0.2392:0.2142	rs7516332;rs52828363;rs56777942;rs7516332	400;400;400	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	400	ENSP00000360200:I400V;ENSP00000326199:I400V	ENSP00000255202:I400V	I	+	1	0	INADL	62033756	0.900000	0.30661	0.167000	0.22817	0.675000	0.39556	0.533000	0.23082	-0.790000	0.04492	-0.336000	0.08194	ATA	A|0.589;G|0.411		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62261168	A	G	62261168	3	3	34	1	0	0	0	0	1	0	0	0	7758	449	16	4	1232	4	INADL	1	62261168	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	15517268	62261168	186989453	8	8380											
GBP2	2634	hgsc.bcm.edu;broad.mit.edu	37	chr1	89586906	89586912	+	Frame_Shift_Del	DEL	TCCAGAT	TCCAGAT	-													gggatgaggcacacaccacaTccagattcccttggtgtgag							TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	TCCAGAT	TCCAGAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:89586906_89586912delTCCAGAT	ENST00000370466.3	-	3	500_506	c.232_238delATCTGGA	c.(232-240)atctggatgfs	p.IWM78fs	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	78	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACACACCACATCCAGATTCCCTTGGTG	0.44																																					p.78_80del		.											.	GBP2-91	0			c.232_238del						.																																			SO:0001589	frameshift_variant	2634	exon3			ACCACATCCAGAT	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.232_238delATCTGGA	1.37:g.89586906_89586912delTCCAGAT	ENSP00000359497:p.Ile78fs	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	87	11	NM_004120	0	0	0	0	0	Q6GPH0|Q6IAU2|Q86TB0	Frame_Shift_Del	DEL	ENST00000370466.3	37	CCDS719.1																																																																																			.		0.44	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		-	89586912	TCCAGAT	-	89586906	7	5	34	1	0	1	0	1	0	0	0	0	6299	1435	50	0	1573	0	GBP2	1	89586906	Frame_Shift_Del	DEL	TCCAGAT	TCGA-OR-A5KS-01A-11D-A30A-10	27325738	89586906	159663715	9	8381											
KPRP	448834	broad.mit.edu	37	chr1	152733496	152733496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccttgtccacgaccagagCcaattcccctgccggcgccc	9	19	0	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:152733496C>A	ENST00000606109.1	+	1	1460	c.1432C>A	c.(1432-1434)Cca>Aca	p.P478T	KPRP_ENST00000368773.1_Missense_Mutation_p.P478T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	478	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGACCAGAGCCAATTCCCCT	0.672																																					p.P478T		.											.	KPRP-95	0			c.C1432A						.						76	81	79					1																	152733496		2203	4300	6503	SO:0001583	missense	448834	exon2			CCAGAGCCAATTC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1432C>A	1.37:g.152733496C>A	ENSP00000475216:p.Pro478Thr	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	35	4	NM_001025231	0	0	0	0	0		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122653	0.94429	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.61	4.61	0.57282	.	0.000000	0.48286	D	0.000191	T	0.24470	0.0593	L	0.54323	1.7	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.72032	D	0.01	-7.9264	15.329	0.74190	0.0:1.0:0.0:0.0	.	478	Q5T749	KPRP_HUMAN	T	478	ENSP00000357762:P478T	ENSP00000357762:P478T	P	+	1	0	KPRP	151000120	0.970000	0.33590	0.729000	0.30791	0.513000	0.34164	3.805000	0.55575	2.555000	0.86185	0.462000	0.41574	CCA	.		0.672	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733496	C	A	152733496	3	1	34	1	0	0	0	0	1	0	0	0	8463	739	26	3	1434	3	KPRP	1	152733496	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	63146590	152733496	96517125	10	8382											
KCNN3	3782	broad.mit.edu	37	chr1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCTGCT													ctgagacaggggatgcggtgINSgctgctgctgctgctgctgc					rs56352724|rs3831942|rs367921715|rs58327065		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:154842199_154842200insGCTGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGCAGC	c.(241-243)cca>cAGCAGCAGCca	p.80_81insQQQ	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	80	Gln-rich.		Missing.		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)	p.Q80_P81insQQ(2)		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)	GGGATGCGGTGgctgctgctgc	0.698																																					p.P81delinsQQQP		.											.	KCNN3-91	2	Insertion - In frame(2)	prostate(2)	c.242_243insAGCAGCAGC						.																																			SO:0001652	inframe_insertion	3782	exon1			TGCGGTGGCTGCT	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.233_241dupAGCAGCAGC	1.37:g.154842200_154842208dupGCTGCTGCT	ENSP00000271915:p.Gln78_Gln80dup	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	116	40	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		GCTGCTGCT	154842200	-	GCTGCTGCT	154842199	7	5	34	1	0	1	1	0	0	0	0	0	8107	1348	47	0	2007	0	KCNN3	1	154842199	In_Frame_Ins	INS	-	TCGA-OR-A5KS-01A-11D-A30A-10	2108703	154842199	94408422	11	8383											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	181727162	181727162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacaccttccagtaccGcgtgtggcactttgtggtgt	11	12	0	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:181727162G>A	ENST00000367573.2	+	31	4409	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1451H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1451H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1077H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1470H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1402H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1421H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1470					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						TTCCAGTACCGCGTGTGGCAC	0.527																																					p.R1470H		.											.	CACNA1E-95	0			c.G4409A						.						132	139	137					1																	181727162		2148	4241	6389	SO:0001583	missense	777	exon31			AGTACCGCGTGTG	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.4409G>A	1.37:g.181727162G>A	ENSP00000356545:p.Arg1470His	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	163	135	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364566	0.95877	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96967	-4.11;-4.11;-4.12;-4.11;-4.19;-4.11;-4.12	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	L	0.48218	1.51	0.80722	D	1	D;P;D	0.89917	0.961;0.81;1.0	P;P;D	0.83275	0.814;0.468;0.996	D	0.98188	1.0461	10	0.72032	D	0.01	.	18.5085	0.90907	0.0:0.0:1.0:0.0	.	1451;1470;1470	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1470;1451;1421;1402;1077;1451;1470	ENSP00000356542:R1470H;ENSP00000434814:R1451H;ENSP00000350183:R1421H;ENSP00000351101:R1402H;ENSP00000356539:R1077H;ENSP00000353222:R1451H;ENSP00000356545:R1470H	ENSP00000350183:R1421H	R	+	2	0	CACNA1E	179993785	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	6.633000	0.74286	2.465000	0.83290	0.655000	0.94253	CGC	.		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181727162	G	A	181727162	3	1	34	1	0	0	0	0	1	0	0	0	2549	1087	38	1	4531	1	CACNA1E	1	181727162	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	26884963	181727162	67523459	12	8384											
JMJD4	65094	hgsc.bcm.edu	37	chr1	227923081	227923081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgccgcgtttctgccccGccagcgcctggggctccggg	17	17	1	0	rs7419238		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:227923081G>A	ENST00000366758.3	-	1	31	c.32C>T	c.(31-33)gCg>gTg	p.A11V	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366759.4_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.A11V	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	11			A -> V (in dbSNP:rs7419238). {ECO:0000269|PubMed:14702039}.							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)				TTTCTGCCCCGCCAGCGCCTG	0.741													A|||	5008	1	1	1	5008	,	,		11222	1		1	False		,,,				2504	1				p.A11V		.											.	JMJD4-226	0			c.C32T						.	A	VAL/ALA,VAL/ALA,	4035,1		2017,1,0	6	7	7		32,32,	2	0	1	dbSNP_116	7	8000,0		4000,0,0	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	64,64,	6017,1,0	AA,AG,GG		0.0,0.0248,0.0083	benign,benign,	11/448,11/464,	227923081	12035,1	2018	4000	6018	SO:0001583	missense	65094	exon1			TGCCCCGCCAGCG	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.32C>T	1.37:g.227923081G>A	ENSP00000355720:p.Ala11Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_023007	0	0	0	0	0	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	361|361	0.9972375690607734|0.9972375690607734	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	A|A	2.779|2.779	-0.253926|-0.253926	0.05829|0.05829	0.999752|0.999752	1.0|1.0	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	3.58|3.58	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	8|4	0.02654|.	T|.	1|.	.|.	5.7765|5.7765	0.18281|0.18281	0.6536:0.0:0.3464:0.0|0.6536:0.0:0.3464:0.0	rs7419238;rs58641567;rs7419238|rs7419238;rs58641567;rs7419238	11;11|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|W	11|4	ENSP00000355720:A11V|.	ENSP00000355720:A11V|.	A|R	-|-	2|1	0|2	JMJD4|JMJD4	225989704|225989704	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.100000|-0.100000	0.10990|0.10990	-0.047000|-0.047000	0.13423|0.13423	-0.268000|-0.268000	0.10319|0.10319	GCG|CGG	G|0.002;A|0.998		0.741	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		A	227923081	G	A	227923081	3	1	34	1	0	0	0	0	1	0	0	0	7978	1087	38	1	1383	1	JMJD4	1	227923081	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	46195919	227923081	21327540	13	8385											
RYR2	6262	broad.mit.edu	37	chr1	237754020	237754020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggttctcagaacagcaaCactgatatcatgttttatcg	7	8	2	2	rs373721253	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:237754020C>T	ENST00000366574.2	+	31	4205	c.3888C>T	c.(3886-3888)aaC>aaT	p.N1296N	RYR2_ENST00000542537.1_Silent_p.N1280N|RYR2_ENST00000360064.6_Silent_p.N1294N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1296	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)			AGAACAGCAACACTGATATCA	0.522													c|||	3	0.000599042	0	0	5008	,	,		16778	0		0.003	False		,,,				2504	0				p.N1296N		.											.	RYR2-158	0			c.C3888T						.	C		0,3952		0,0,1976	250	238	242		3888	2.2	0	1		242	7,8313		0,7,4153	no	coding-synonymous	RYR2	NM_001035.2		0,7,6129	TT,TC,CC		0.0841,0.0,0.057		1296/4968	237754020	7,12265	1976	4160	6136	SO:0001819	synonymous_variant	6262	exon31			CAGCAACACTGAT	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.3888C>T	1.37:g.237754020C>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237754020	C	T	237754020	2	4	34	1	0	0	0	0	0	0	0	1	13814	477	17	3		3	RYR2	1	237754020	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	9830939	237754020	11496601	14	8386											
FMN2	56776	mdanderson.org	37	chr1	240371151	240371151	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcataccccctcctcccccTcttcccggagcgggcatacc	8	21	1	0	rs71646892	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:240371151T>A	ENST00000319653.9	+	5	3269	c.3039T>A	c.(3037-3039)ccT>ccA	p.P1013P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1013	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCCCCTCTTCCCGGAG	0.736																																					p.P1013P		.											.	FMN2-145	0			c.T3039A						.						3	3	3					1																	240371151		1579	3224	4803	SO:0001819	synonymous_variant	56776	exon5			TCCCCCTCTTCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3039T>A	1.37:g.240371151T>A		Somatic	28	2		WXS	Illumina GAIIx	Phase_I	26	8	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			T|0.962;A|0.038		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371151	T	A	240371151	2	1	34	1	0	0	0	0	0	0	0	1	5972	1538	54	5		5	FMN2	1	240371151	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	2617131	240371151	8879470	15	8387											
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	247587530	247587530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgttctatatccactgtcGagaggtgagccttgtgacac	10	10	2	3	rs180177442		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:247587530G>A	ENST00000336119.3	+	3	1531	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	NLRP3_ENST00000348069.2_Missense_Mutation_p.R262Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.R262Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.R262Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.R262Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.R262Q	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	262	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		R -> L (in CINCA). {ECO:0000269|PubMed:14630794}.|R -> P (in CINCA). {ECO:0000269|PubMed:14630794}.|R -> W (in FCAS1 and MWS). {ECO:0000269|PubMed:11992256, ECO:0000269|PubMed:12355493}.		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.R262L(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)			ATCCACTGTCGAGAGGTGAGC	0.547																																					p.R262Q		.											.	NLRP3-674	1	Substitution - Missense(1)	urinary_tract(1)	c.G785A						.						67	67	67					1																	247587530		2203	4300	6503	SO:0001583	missense	114548	exon3			ACTGTCGAGAGGT	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.785G>A	1.37:g.247587530G>A	ENSP00000337383:p.Arg262Gln	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	90	16	NM_183395	0	0	0	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532307	0.64972	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.000000	0.46758	D	0.000269	D	0.89636	0.6772	M	0.76938	2.355	0.45452	D	0.99842	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;0.998	D;P;D;D;D	0.97110	1.0;0.895;1.0;0.965;0.957	D	0.88876	0.3336	10	0.44086	T	0.13	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	262;262;262;262;262	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	262	ENSP00000375704:R262Q;ENSP00000355453:R262Q;ENSP00000337383:R262Q;ENSP00000294752:R262Q;ENSP00000355452:R262Q;ENSP00000375703:R262Q	ENSP00000337383:R262Q	R	+	2	0	NLRP3	245654153	0.997000	0.39634	0.979000	0.43373	0.220000	0.24768	6.737000	0.74816	2.543000	0.85770	0.563000	0.77884	CGA	.		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587530	G	A	247587530	3	1	34	1	0	0	0	0	1	0	0	0	10517	1058	37	1	795	1	NLRP3	1	247587530	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	7216379	247587530	1663091	16	8388											
OR2M3	127062	bcgsc.ca	37	chr1	248366792	248366792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagccctaaaatttgTggacttatgactgccttttc	7	10	1	2	rs12562957	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr1:248366792T>C	ENST00000456743.1	+	1	461	c.423T>C	c.(421-423)tgT>tgC	p.C141C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTAAAATTTGTGGACTTATGA	0.453													T|||	1232	0.246006	0.171	0.255	5008	,	,		19737	0.3542		0.1451	False		,,,				2504	0.3333				p.C141C		.											.	OR2M3-70	0			c.T423C						.	T		688,3718	290.4+/-280.9	61,566,1576	208	208	208		423	0	0	1	dbSNP_120	208	1258,7342	251.1+/-277.7	90,1078,3132	no	coding-synonymous	OR2M3	NM_001004689.1		151,1644,4708	CC,CT,TT		14.6279,15.6151,14.9623		141/313	248366792	1946,11060	2203	4300	6503	SO:0001819	synonymous_variant	127062	exon1			AATTTGTGGACTT		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.423T>C	1.37:g.248366792T>C		Somatic	272	1		WXS	Illumina GAIIx	Phase_I	283	8	NM_001004689	0	0	0	0	0	B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	CCDS31107.1																																																																																			T|0.828;C|0.172		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		C	248366792	T	C	248366792	2	2	34	1	0	0	0	0	0	0	0	1	11050	1702	59	4		4	OR2M3	1	248366792	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	779262	248366792	883829	17	8389											
ANKRD36B	0	bcgsc.ca	37	chr2	98129815	98129815	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttctttttttcttgcTgtatggcaaatctgtaaata	5	6	4	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr2:98129815T>G								AC159540.1 (38766 upstream) : ANKRD36B (34212 downstream)																							TTTTTCTTGCTGTATGGCAAA	0.333																																					p.Q878P		.											.	.	0			c.A2633C						.						13	15	15					2																	98129815		1506	3684	5190	SO:0001628	intergenic_variant	57730	exon38			TCTTGCTGTATGG																													2.37:g.98129815T>G		Somatic	238	6		WXS	Illumina GAIIx	Phase_I	249	27	NM_025190	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.333									G	98129815	T	G	98129815	1	3	34	0	1	0	0	0	0	0	0	0	666	1580	55	5		5	ANKRD36B	2	98129815	IGR	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10		98129815	145069558	18	8390											
RGPD4	285190	broad.mit.edu	37	chr2	108475928	108475928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccgttatgcctgcccCttcctgtatgtaaacagctt	7	13	1	0	rs143215949	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr2:108475928C>T	ENST00000408999.3	+	11	1629	c.1552C>T	c.(1552-1554)Ctt>Ttt	p.L518F	RGPD4_ENST00000354986.4_Missense_Mutation_p.L518F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	518					protein targeting to Golgi (GO:0000042)			p.L518F(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCCTGCCCCTTCCTGTATG	0.393																																					p.L518F		.											.	RGPD4-2	1	Substitution - Missense(1)	skin(1)	c.C1552T						.	C	PHE/LEU	20,1364		0,20,672	115	99	104		1552	1.7	1	2	dbSNP_134	104	15,3167		0,15,1576	no	missense	RGPD4	NM_182588.2	22	0,35,2248	TT,TC,CC		0.4714,1.4451,0.7665	probably-damaging	518/1759	108475928	35,4531	692	1591	2283	SO:0001583	missense	285190	exon11			CTGCCCCTTCCTG	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1552C>T	2.37:g.108475928C>T	ENSP00000386810:p.Leu518Phe	Somatic	256	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_182588	0	0	0	0	0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	5.511	0.279200	0.10458	0.014451	0.004714	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.50548	0.74;0.74	2.6	1.7	0.24286	.	.	.	.	.	T	0.34803	0.0910	M	0.69823	2.125	0.27171	N	0.960928	B	0.06786	0.001	B	0.06405	0.002	T	0.33317	-0.9873	9	0.38643	T	0.18	-11.7549	6.3947	0.21605	0.0:0.7319:0.0:0.2681	.	518	Q7Z3J3	RGPD4_HUMAN	F	518;518;276	ENSP00000347081:L518F;ENSP00000386810:L518F	ENSP00000347081:L518F	L	+	1	0	RGPD4	107842360	0.830000	0.29337	0.968000	0.41197	0.263000	0.26337	1.503000	0.35715	0.308000	0.22923	0.152000	0.16155	CTT	.		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		T	108475928	C	T	108475928	3	4	34	1	0	0	0	0	1	0	0	0	13333	681	24	3	1594	3	RGPD4	2	108475928	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	10346113	108475928	134723445	19	8391											
CLK1	1195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	201726549	201726549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataatcccaatccttgtcatCccaatcaggacagtaagttc	5	12	2	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr2:201726549C>T	ENST00000321356.4	-	2	172	c.37G>A	c.(37-39)Gat>Aat	p.D13N	CLK1_ENST00000434813.2_Missense_Mutation_p.D55N|CLK1_ENST00000492793.1_Intron|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	13					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						TCCTTGTCATCCCAATCAGGA	0.413																																					p.D55N		.											.	CLK1-784	0			c.G163A						.						143	130	135					2																	201726549		2203	4300	6503	SO:0001583	missense	1195	exon2			TGTCATCCCAATC	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.37G>A	2.37:g.201726549C>T	ENSP00000326830:p.Asp13Asn	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	177	63	NM_001162407	0	0	0	0	0	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589301	0.86851	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.66995	-0.2;-0.24	5.27	4.34	0.51931	.	0.327983	0.31734	N	0.007159	T	0.74199	0.3685	M	0.62723	1.935	0.33377	D	0.574299	D;D	0.65815	0.995;0.979	P;P	0.57468	0.821;0.69	T	0.77930	-0.2403	10	0.28530	T	0.3	.	15.4775	0.75497	0.1387:0.8613:0.0:0.0	.	55;13	B4DFW7;P49759	.;CLK1_HUMAN	N	13;13;55	ENSP00000326830:D13N;ENSP00000394734:D55N	ENSP00000326830:D13N	D	-	1	0	CLK1	201434794	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.837000	0.39201	2.613000	0.88420	0.637000	0.83480	GAT	.		0.413	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			T	201726549	C	T	201726549	3	4	34	1	0	0	0	0	1	0	0	0	3543	855	30	3	1465	3	CLK1	2	201726549	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	93250621	201726549	41472824	20	8392											
COL6A3	1293	bcgsc.ca	37	chr2	238243464	238243464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataaggaccggggggctcagCcctctcccagtggagtttgg	15	11	2	0	rs2270669	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr2:238243464C>G	ENST00000295550.4	-	41	9486	c.9034G>C	c.(9034-9036)Gct>Cct	p.A3012P	COL6A3_ENST00000409809.1_Missense_Mutation_p.A2806P|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2405P|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2812P|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2811P|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2806P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3012	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.		A -> P (in dbSNP:rs2270669). {ECO:0000269|PubMed:1689238}.		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)		GGGGGCTCAGCCCTCTCCCAG	0.512													G|||	3968	0.792332	0.9841	0.67	5008	,	,		17731	0.7312		0.7873	False		,,,				2504	0.6881				p.A3012P		.											.	COL6A3-526	0			c.G9034C						.	G	PRO/ALA,PRO/ALA,PRO/ALA	4167,239	138.4+/-174.2	1968,231,4	79	85	83		8416,7213,9034	5.3	1	2	dbSNP_100	83	6694,1906	338.7+/-322.9	2619,1456,225	yes	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	27,27,27	4587,1687,229	GG,GC,CC		22.1628,5.4244,16.4924	benign,benign,benign	2806/2972,2405/2571,3012/3178	238243464	10861,2145	2203	4300	6503	SO:0001583	missense	1293	exon41			GCTCAGCCCTCTC	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.9034G>C	2.37:g.238243464C>G	ENSP00000295550:p.Ala3012Pro	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	190	7	NM_004369	0	0	0	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	1754	0.8031135531135531	479	0.9735772357723578	255	0.7044198895027625	426	0.7447552447552448	594	0.783641160949868	G	13.26	2.183382	0.38511	0.945756	0.778372	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	N	0.000045	T	0.00012	0.0000	N	0.00146	-1.995	0.42989	P	0.005514000000000019	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43426	-0.9392	9	0.02654	T	1	.	16.1489	0.81599	0.0:0.1337:0.8663:0.0	rs2270669;rs52811857;rs58929103;rs2270669	2405;2806;3012	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	3012;2811;2806;2405;2806;2812	ENSP00000295550:A3012P;ENSP00000315609:A2811P;ENSP00000315873:A2806P;ENSP00000418285:A2405P;ENSP00000386844:A2806P;ENSP00000295546:A2812P	ENSP00000295550:A3012P	A	-	1	0	COL6A3	237908203	1.000000	0.71417	0.956000	0.39512	0.486000	0.33341	5.502000	0.66956	1.247000	0.43917	-0.215000	0.12644	GCT	C|0.334;G|0.666		0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238243464	C	G	238243464	3	3	34	1	0	0	0	0	1	0	0	0	3708	739	26	3	515	3	COL6A3	2	238243464	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	36516915	238243464	4955909	21	8393											
COL6A3	1293	bcgsc.ca	37	chr2	238249630	238249630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttgtctgaccaggtaCgctatgtacttcttcatctc	7	12	4	1	rs4433949	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr2:238249630C>T	ENST00000295550.4	-	38	8381	c.7929G>A	c.(7927-7929)gcG>gcA	p.A2643A	COL6A3_ENST00000409809.1_Silent_p.A2437A|COL6A3_ENST00000472056.1_Silent_p.A2036A|COL6A3_ENST00000346358.4_Silent_p.A2443A|COL6A3_ENST00000347401.3_Silent_p.A2442A|COL6A3_ENST00000353578.4_Silent_p.A2437A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2643	Nonhelical region.|VWFA 12. {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)		TGACCAGGTACGCTATGTACT	0.567													C|||	1715	0.342452	0.2133	0.3329	5008	,	,		21379	0.4802		0.4284	False		,,,				2504	0.2935				p.A2643A		.											.	COL6A3-526	0			c.G7929A						.	C	,,	1138,3268	405.1+/-333.4	155,828,1220	158	146	150		7929,6108,7311	-5.4	0	2	dbSNP_111	150	3646,4954	524.7+/-380.6	769,2108,1423	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	924,2936,2643	TT,TC,CC		42.3953,25.8284,36.783	,,	2643/3178,2036/2571,2437/2972	238249630	4784,8222	2203	4300	6503	SO:0001819	synonymous_variant	1293	exon38			CAGGTACGCTATG	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.7929G>A	2.37:g.238249630C>T		Somatic	165	1		WXS	Illumina GAIIx	Phase_I	187	12	NM_004369	0	0	0	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			C|0.625;T|0.375		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238249630	C	T	238249630	2	4	34	1	0	0	0	0	0	0	0	1	3708	523	19	1		1	COL6A3	2	238249630	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	6166	238249630	4949743	22	8394											
TGFBR2	7048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	30713517	30713517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtcaagatctttccctAtgaggagtatgcctcttgga	11	9	3	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:30713517A>G	ENST00000295754.5	+	4	1224	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.Y306C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCTTTCCCTATGAGGAGTAT	0.498																																					p.Y306C		.											.	TGFBR2-1698	0			c.A917G						.						138	131	133					3																	30713517		2203	4300	6503	SO:0001583	missense	7048	exon5			TTCCCTATGAGGA		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.842A>G	3.37:g.30713517A>G	ENSP00000295754:p.Tyr281Cys	Somatic	202	1		WXS	Illumina GAIIx	Phase_I	356	208	NM_001024847	0	0	0	0	0	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	9.496	1.101847	0.20632	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	T;T	0.66099	-0.19;-0.19	5.02	3.82	0.43975	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172480	0.53938	D	0.000057	T	0.48040	0.1478	N	0.25380	0.74	0.49687	D	0.999815	B;B	0.18863	0.011;0.031	B;B	0.27608	0.048;0.081	T	0.34030	-0.9845	10	0.37606	T	0.19	.	9.0967	0.36642	0.7066:0.0:0.0:0.2934	.	281;306	P37173;D2JYI1	TGFR2_HUMAN;.	C	281;306	ENSP00000295754:Y281C;ENSP00000351905:Y306C	ENSP00000295754:Y281C	Y	+	2	0	TGFBR2	30688521	0.995000	0.38212	0.873000	0.34254	0.954000	0.61252	3.433000	0.52834	0.707000	0.31934	0.533000	0.62120	TAT	.		0.498	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			G	30713517	A	G	30713517	3	3	34	1	0	0	0	0	1	0	0	0	15869	449	16	4	935	4	TGFBR2	3	30713517	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10		30713517	167308913	23	8395											
CCR2	729230	broad.mit.edu	37	chr3	46400062	46400062	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgacttcaacaaacacGccttccactggggagcagga	12	11	1	1	rs3092960	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:46400062G>A	ENST00000400888.2	+	1	980				CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.T348T			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CAACAAACACGCCTTCCACTG	0.438													G|||	221	0.0441294	0.0053	0.098	5008	,	,		20507	0		0.1332	False		,,,				2504	0.0123				p.T348T		.											.	CCR2-568	0			c.G1044A						.	G	,	39,1345		0,39,653	62	59	60		,1044	-5.9	0	3	dbSNP_103	60	463,2719		31,401,1159	no	intron,coding-synonymous	CCR2	NM_001123041.2,NM_001123396.1	,	31,440,1812	AA,AG,GG		14.5506,2.8179,10.9943	,	,348/361	46400062	502,4064	692	1591	2283	SO:0001627	intron_variant	729230	exon2			AAACACGCCTTCC		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.941+103G>A	3.37:g.46400062G>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	86	5	NM_001123396	0	0	0	0	0	A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	CCDS43078.1																																																																																			G|0.929;A|0.071		0.438	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		A	46400062	G	A	46400062	1	1	34	0	1	0	0	0	0	0	0	0	2948	1074	38	1		1	CCR2	3	46400062	Intron	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	15686545	46400062	151622368	24	8396											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	34	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	20150694	66550756	131471674	25	8397	71	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	34	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	6	66550762	131471668	26	8398	71	2									
CHST13	166012	hgsc.bcm.edu	37	chr3	126260995	126260995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccttccagaggcgctaCggtgcacgcatcgttcagcg	13	15	1	1	rs7614066	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:126260995C>T	ENST00000319340.2	+	3	650	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	200					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		AGAGGCGCTACGGTGCACGCA	0.721													C|||	273	0.0545128	0.1248	0.0288	5008	,	,		7896	0.002		0.0258	False		,,,				2504	0.0613				p.Y200Y		.											.	CHST13-90	0			c.C600T						.	C		331,3793		10,311,1741	6	7	6		600	-5.3	0.2	3	dbSNP_116	6	189,7819		2,185,3817	no	coding-synonymous	CHST13	NM_152889.2		12,496,5558	TT,TC,CC		2.3601,8.0262,4.2862		200/342	126260995	520,11612	2062	4004	6066	SO:0001819	synonymous_variant	166012	exon3			GCGCTACGGTGCA	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.600C>T	3.37:g.126260995C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_152889	0	0	0	0	0	Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	CCDS3039.1																																																																																			C|0.956;T|0.044		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		T	126260995	C	T	126260995	2	4	34	1	0	0	0	0	0	0	0	1	3408	547	19	1		1	CHST13	3	126260995	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	59710233	126260995	71761435	27	8399											
EEFSEC	60678	hgsc.bcm.edu	37	chr3	127872494	127872494	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgcgagcgcggcatcacGctcgatctgggcttctcgtg	14	14	3	0	rs148745324	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:127872494G>T	ENST00000254730.6	+	1	198	c.144G>T	c.(142-144)acG>acT	p.T48T	EEFSEC_ENST00000483457.1_Silent_p.T48T|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	48	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCGGCATCACGCTCGATCTGG	0.716													G|||	3	0.000599042	0	0.0014	5008	,	,		11738	0		0	False		,,,				2504	0.002				p.T48T		.											.	EEFSEC-91	0			c.G144T						.	G		6,4334		0,6,2164	11	13	12		144	2.3	1	3	dbSNP_134	12	34,8492		0,34,4229	no	coding-synonymous	EEFSEC	NM_021937.3		0,40,6393	TT,TG,GG		0.3988,0.1382,0.3109		48/597	127872494	40,12826	2170	4263	6433	SO:0001819	synonymous_variant	60678	exon1			CATCACGCTCGAT		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.144G>T	3.37:g.127872494G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	37	18	NM_021937	0	0	0	0	0	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																			G|0.996;T|0.004		0.716	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127872494	G	T	127872494	2	4	34	1	0	0	0	0	0	0	0	1	4945	1074	38	2		2	EEFSEC	3	127872494	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	1611499	127872494	70149936	28	8400											
DNAJC13	23317	bcgsc.ca	37	chr3	132166266	132166266	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaaaaagtcagaaacTttaaaattttctacagagca	7	5	2	2	rs11917172	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:132166266T>G	ENST00000260818.6	+	4	494	c.246T>G	c.(244-246)acT>acG	p.T82T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	82					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGTCAGAAACTTTAAAATTTT	0.363													T|||	538	0.107428	0.0053	0.1398	5008	,	,		14416	0.1419		0.1292	False		,,,				2504	0.1646				p.T82T		.											.	DNAJC13-272	0			c.T246G						.	T		118,4288	81.9+/-120.4	1,116,2086	48	53	51		246	1.8	1	3	dbSNP_120	51	1048,7552	218.3+/-256.7	66,916,3318	no	coding-synonymous	DNAJC13	NM_015268.3		67,1032,5404	GG,GT,TT		12.186,2.6782,8.9651		82/2244	132166266	1166,11840	2203	4300	6503	SO:0001819	synonymous_variant	23317	exon4			AGAAACTTTAAAA	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.246T>G	3.37:g.132166266T>G		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	307	8	NM_015268	0	0	0	0	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																			T|0.900;G|0.100		0.363	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132166266	T	G	132166266	2	3	34	1	0	0	0	0	0	0	0	1	4646	1596	56	5		5	DNAJC13	3	132166266	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	4293772	132166266	65856164	29	8401											
NDUFB5	4711	broad.mit.edu	37	chr3	179322628	179322629	+	Frame_Shift_Ins	INS	-	-	G													ggccatgagtttgttgcggcINSgggtttcggttactgcggtg					rs144873631|rs11539673		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:179322628_179322629insG	ENST00000259037.3	+	1	139_140	c.25_26insG	c.(25-27)cggfs	p.R9fs	NDUFB5_ENST00000493866.1_Frame_Shift_Ins_p.R9fs|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000472629.1_Frame_Shift_Ins_p.R9fs|MRPL47_ENST00000476781.1_5'Flank|MRPL47_ENST00000259038.2_5'Flank	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	9					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R9P(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTTGTTGCGGCGGGTTTCGGTT	0.609																																					p.R9fs		.											.	NDUFB5-91	1	Substitution - Missense(1)	lung(1)	c.25_26insG						.																																			SO:0001589	frameshift_variant	4711	exon1			TTGCGGCGGGTTT	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.28dupG	3.37:g.179322631_179322631dupG	ENSP00000259037:p.Arg9fs	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	107	7	NM_001199958	0	0	0	0	0	Q561V6	Frame_Shift_Ins	INS	ENST00000259037.3	37	CCDS3234.1																																																																																			.		0.609	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		G	179322629	-	G	179322628	7	5	34	1	0	1	1	0	0	0	0	0	10323	759	27	0	27	0	NDUFB5	3	179322628	Frame_Shift_Ins	INS	-	TCGA-OR-A5KS-01A-11D-A30A-10	47156362	179322628	18699802	30	8402											
YEATS2	55689	broad.mit.edu;bcgsc.ca	37	chr3	183469993	183469993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagtgaaagcttcttcaCcaataaagcagtcacatgag	7	12	3	2	rs368005924		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr3:183469993C>T	ENST00000305135.5	+	10	1297	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	368					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)			AGCTTCTTCACCAATAAAGCA	0.488																																					p.P368S		.											.	YEATS2-138	0			c.C1102T						.	C	SER/PRO	0,3884		0,0,1942	150	142	145		1102	4.3	0.9	3		145	3,8293		0,3,4145	no	missense	YEATS2	NM_018023.4	74	0,3,6087	TT,TC,CC		0.0362,0.0,0.0246	benign	368/1423	183469993	3,12177	1942	4148	6090	SO:0001583	missense	55689	exon10			TCTTCACCAATAA	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.1102C>T	3.37:g.183469993C>T	ENSP00000306983:p.Pro368Ser	Somatic	180	1		WXS	Illumina GAIIx	Phase_I	146	6	NM_018023	0	0	0	0	0	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913122	0.52439	0.0	3.62E-4	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.27104	1.69	5.15	4.27	0.50696	.	0.258185	0.31542	N	0.007476	T	0.21186	0.0510	L	0.32530	0.975	0.36568	D	0.872845	B	0.26744	0.158	B	0.20767	0.031	T	0.13602	-1.0503	10	0.72032	D	0.01	-8.0897	14.2553	0.66048	0.0:0.8517:0.1483:0.0	.	368	Q9ULM3	YETS2_HUMAN	S	368	ENSP00000306983:P368S	ENSP00000306983:P368S	P	+	1	0	YEATS2	184952687	0.971000	0.33674	0.901000	0.35422	0.997000	0.91878	3.584000	0.53936	1.156000	0.42514	0.655000	0.94253	CCA	.		0.488	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		T	183469993	C	T	183469993	3	4	34	1	0	0	0	0	1	0	0	0	17521	507	18	3	1136	3	YEATS2	3	183469993	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	4147365	183469993	14552437	31	8403											
TBC1D1	23216	hgsc.bcm.edu	37	chr4	38016372	38016372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacccgccccatgccgcGcccacagggagccaggagcc	11	21	0	0	rs61731587	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:38016372G>A	ENST00000261439.4	+	3	1015	c.660G>A	c.(658-660)gcG>gcA	p.A220A	TBC1D1_ENST00000508802.1_Silent_p.A220A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	220					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCCATGCCGCGCCCACAGGGA	0.701													G|||	159	0.0317492	0.0575	0.0389	5008	,	,		10588	0.0258		0.0149	False		,,,				2504	0.0153				p.A220A		.											.	TBC1D1-91	0			c.G660A						.	G		182,4022		2,178,1922	11	15	14		660	-2.7	0	4	dbSNP_129	14	83,8373		0,83,4145	no	coding-synonymous	TBC1D1	NM_015173.2		2,261,6067	AA,AG,GG		0.9816,4.3292,2.0932		220/1169	38016372	265,12395	2102	4228	6330	SO:0001819	synonymous_variant	23216	exon3			TGCCGCGCCCACA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.660G>A	4.37:g.38016372G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	23	NM_015173	0	0	0	0	0	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1																																																																																			G|0.968;A|0.032		0.701	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		A	38016372	G	A	38016372	2	1	34	1	0	0	0	0	0	0	0	1	15644	1074	38	1		1	TBC1D1	4	38016372	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10		38016372	153137904	32	8404											
SHROOM3	57619	bcgsc.ca	37	chr4	77660731	77660731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccgaccagcatctacCcggtaccttccctggagcca	9	17	1	0	rs344141	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:77660731C>G	ENST00000296043.6	+	5	2358	c.1405C>G	c.(1405-1407)Ccg>Gcg	p.P469A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	469			P -> A (in dbSNP:rs344141). {ECO:0000269|Ref.1}.		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)			CAGCATCTACCCGGTACCTTC	0.577													C|||	2196	0.438498	0.4213	0.4856	5008	,	,		19043	0.2688		0.6064	False		,,,				2504	0.4305				p.P469A		.											.	SHROOM3-93	0			c.C1405G						.	C	ALA/PRO	1943,2463	551.7+/-378.3	444,1055,704	92	96	94		1405	4.6	1	4	dbSNP_79	94	5282,3318	645.4+/-400.2	1624,2034,642	yes	missense	SHROOM3	NM_020859.3	27	2068,3089,1346	GG,GC,CC		38.5814,44.099,44.4487	probably-damaging	469/1997	77660731	7225,5781	2203	4300	6503	SO:0001583	missense	57619	exon5			ATCTACCCGGTAC	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.1405C>G	4.37:g.77660731C>G	ENSP00000296043:p.Pro469Ala	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	214	7	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	1032	0.4725274725274725	231	0.4695121951219512	190	0.5248618784530387	152	0.26573426573426573	459	0.6055408970976254	C	13.65	2.300121	0.40694	0.44099	0.614186	ENSG00000138771	ENST00000296043	T	0.47177	0.85	5.49	4.63	0.57726	.	0.083333	0.51477	N	0.000090	T	0.00012	0.0000	M	0.74258	2.255	0.23602	P	0.99731606	D;P	0.89917	1.0;0.668	D;B	0.83275	0.996;0.15	T	0.49214	-0.8963	9	0.51188	T	0.08	-14.476	15.816	0.78599	0.0:0.7438:0.2562:0.0	rs344141;rs60679804;rs344141	293;469	B4E244;Q8TF72	.;SHRM3_HUMAN	A	469	ENSP00000296043:P469A	ENSP00000296043:P469A	P	+	1	0	SHROOM3	77879755	1.000000	0.71417	0.988000	0.46212	0.150000	0.21749	3.257000	0.51500	1.265000	0.44215	0.563000	0.77884	CCG	C|0.486;G|0.514		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		G	77660731	C	G	77660731	3	3	34	1	0	0	0	0	1	0	0	0	14340	623	22	3	1423	3	SHROOM3	4	77660731	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	39644359	77660731	113493545	33	8405											
HELQ	113510	broad.mit.edu	37	chr4	84376805	84376806	+	Frame_Shift_Del	DEL	GA	GA	-													cttggacggttccttttgggGagagacacccgccggcggat							TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:84376805_84376806delGA	ENST00000295488.3	-	1	203_204	c.41_42delTC	c.(40-42)ctcfs	p.L14fs	HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000510985.1_Frame_Shift_Del_p.L14fs|MRPS18C_ENST00000507019.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	14					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						TCCTTTTGGGGAGAGACACCCG	0.604								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.14_14del		.											.	HELQ-155	0			c.41_42del						.																																			SO:0001589	frameshift_variant	113510	exon1			TTTGGGGAGAGAC	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.41_42delTC	4.37:g.84376809_84376810delGA	ENSP00000295488:p.Leu14fs	Somatic	30	0	1228	WXS	Illumina GAIIx	Phase_I	53	12	NM_133636	0	0	0	0	0	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Del	DEL	ENST00000295488.3	37	CCDS3603.1																																																																																			.		0.604	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		-	84376806	GA	-	84376805	7	5	34	1	0	1	0	1	0	0	0	0	7074	1161	41	0	3335	0	HELQ	4	84376805	Frame_Shift_Del	DEL	GA	TCGA-OR-A5KS-01A-11D-A30A-10	6716074	84376805	106777471	34	8406											
NUDT9	53343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	88379078	88379078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatcaatgataaactgaagCtttatgccagtcactctcaa	5	10	3	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:88379078C>G	ENST00000302174.4	+	8	1282	c.958C>G	c.(958-960)Ctt>Gtt	p.L320V	NUDT9_ENST00000473942.1_Missense_Mutation_p.L270V|RP11-710E1.2_ENST00000609450.1_lincRNA	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	320	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TAAACTGAAGCTTTATGCCAG	0.438																																					p.L320V		.											.	NUDT9-90	0			c.C958G						.						120	108	112					4																	88379078		2203	4300	6503	SO:0001583	missense	53343	exon8			CTGAAGCTTTATG	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.958C>G	4.37:g.88379078C>G	ENSP00000303575:p.Leu320Val	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	193	41	NM_024047	0	0	0	0	0	Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524590	0.44969	.	.	ENSG00000170502	ENST00000302174;ENST00000473942	T;T	0.15834	2.39;2.39	5.09	4.23	0.50019	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.71656	0.955;0.974	T	0.28073	-1.0055	10	0.87932	D	0	-18.8243	11.3489	0.49577	0.0:0.9129:0.0:0.0871	.	320;320	Q96KB3;Q9BW91	.;NUDT9_HUMAN	V	320;270	ENSP00000303575:L320V;ENSP00000421811:L270V	ENSP00000303575:L320V	L	+	1	0	NUDT9	88598102	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	2.819000	0.48049	1.235000	0.43724	0.557000	0.71058	CTT	.		0.438	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			G	88379078	C	G	88379078	3	3	34	1	0	0	0	0	1	0	0	0	10785	797	28	3	988	3	NUDT9	4	88379078	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	4002273	88379078	102775198	35	8407											
DSPP	1834	bcgsc.ca	37	chr4	88537027	88537027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgatagcagtgaCagcagtgacagcagcgacag	14	9	0	3			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:88537027C>T	ENST00000282478.7	+	4	3246	c.3213C>T	c.(3211-3213)gaC>gaT	p.D1071D	DSPP_ENST00000399271.1_Silent_p.D1071D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	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)		atagcagtgacagcagtgaca	0.542																																					p.D1071D		.											.	DSPP-90	0			c.C3213T						.						56	66	63					4																	88537027		1577	2848	4425	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>T	4.37:g.88537027C>T		Somatic	543	10		WXS	Illumina GAIIx	Phase_I	1036	35	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537027	C	T	88537027	2	4	34	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537027	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	157949	88537027	102617249	36	8408											
IRF2	3660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	185339341	185339341	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgatgtgcttaactttgtCttctttttctgtctttggtt	7	7	4	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr4:185339341C>T	ENST00000393593.3	-	5	598	c.391G>A	c.(391-393)Gac>Aac	p.D131N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	131					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTAACTTTGTCTTCTTTTTCT	0.368																																					p.D131N		.											.	IRF2-91	0			c.G391A						.						309	256	274					4																	185339341		2203	4300	6503	SO:0001583	missense	3660	exon5			CTTTGTCTTCTTT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.391G>A	4.37:g.185339341C>T	ENSP00000377218:p.Asp131Asn	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	120	32	NM_002199	0	0	0	0	0	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.646355|2.646355	0.47258|0.47258	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316|ENST00000505067	D;D;D;D|.	0.97959|.	-4.63;-4.61;-4.59;-4.6|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.700955|.	0.15281|.	N|.	0.270695|.	T|T	0.71022|0.71022	0.3291|0.3291	L|L	0.47716|0.47716	1.5|1.5	0.50632|0.50632	D|D	0.999884|0.999884	P|.	0.34462|.	0.454|.	B|.	0.32677|.	0.15|.	T|T	0.63721|0.63721	-0.6573|-0.6573	10|5	0.17369|.	T|.	0.5|.	-18.0748|-18.0748	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	131|.	P14316|.	IRF2_HUMAN|.	N|K	131|29	ENSP00000377218:D131N;ENSP00000427204:D131N;ENSP00000424552:D131N;ENSP00000422860:D131N|.	ENSP00000377218:D131N|.	D|R	-|-	1|2	0|0	IRF2|IRF2	185576335|185576335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.476000|5.476000	0.66793|0.66793	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AGA	.		0.368	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			T	185339341	C	T	185339341	3	4	34	1	0	0	0	0	1	0	0	0	7855	913	32	3	678	3	IRF2	4	185339341	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	96802314	185339341	5814935	37	8409											
LRRC14B	389257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	194841	194841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccctacagaccccgctGcgagtactggacctggccaa	10	17	0	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr5:194841G>A	ENST00000328278.3	+	2	946	c.918G>A	c.(916-918)ctG>ctA	p.L306L	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	306										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AGACCCCGCTGCGAGTACTGG	0.642																																					p.L306L		.											.	LRRC14B-69	0			c.G918A						.						33	37	36					5																	194841		2089	4213	6302	SO:0001819	synonymous_variant	389257	exon2			CCCGCTGCGAGTA		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.918G>A	5.37:g.194841G>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	411	120	NM_001080478	0	0	0	0	0		Silent	SNP	ENST00000328278.3	37	CCDS47184.1																																																																																			.		0.642	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		A	194841	G	A	194841	2	1	34	1	0	0	0	0	0	0	0	1	9004	1306	46	3		3	LRRC14B	5	194841	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10		194841	180720419	38	8410											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgagcagcgccgcAgccccgggctctgccccccg	14	19	1	1	rs2662263	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.S63R|RGMB-AS1_ENST00000505362.1_RNA			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1	0.9885	5008	,	,		8183	1		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1	1	1					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98109838	A	C	98109838	3	2	34	1	0	0	0	0	1	0	0	0	13326	188	7	5	193	5	RGMB	5	98109838	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	97914997	98109838	82805422	39	8411											
NIPAL4	348938	broad.mit.edu;bcgsc.ca	37	chr5	156899408	156899408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtcattgccccacgtTacgggcaaaggaatatcctc	8	12	2	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr5:156899408T>C	ENST00000311946.7	+	6	957	c.841T>C	c.(841-843)Tac>Cac	p.Y281H	NIPAL4_ENST00000435489.2_Missense_Mutation_p.Y262H|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	281						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGCCCCACGTTACGGGCAAAG	0.517											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y281H		.											.	NIPAL4-68	0			c.T841C						.						224	224	224					5																	156899408		2149	4259	6408	SO:0001583	missense	348938	exon6			CCACGTTACGGGC	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.841T>C	5.37:g.156899408T>C	ENSP00000311687:p.Tyr281His	Somatic	50	1	1782	WXS	Illumina GAIIx	Phase_I	72	33	NM_001099287	0	0	0	0	0	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390623	0.62066	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.89875	-2.58;-2.58	6.04	6.04	0.98038	.	0.296123	0.38605	N	0.001640	D	0.92473	0.7610	L	0.55481	1.735	0.58432	D	0.999994	P;D	0.71674	0.859;0.998	B;D	0.68353	0.274;0.957	D	0.91106	0.4918	10	0.31617	T	0.26	-11.7063	16.5763	0.84648	0.0:0.0:0.0:1.0	.	262;281	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	H	262;281	ENSP00000406456:Y262H;ENSP00000311687:Y281H	ENSP00000311687:Y281H	Y	+	1	0	NIPAL4	156831986	1.000000	0.71417	0.543000	0.28128	0.777000	0.43975	4.812000	0.62613	2.317000	0.78254	0.459000	0.35465	TAC	.		0.517	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		C	156899408	T	C	156899408	3	2	34	1	0	0	0	0	1	0	0	0	10466	1754	61	4	863	4	NIPAL4	5	156899408	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	58789570	156899408	24015852	40	8412											
BTNL3	10917	bcgsc.ca	37	chr5	180432416	180432416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacccatagaaaagctccCcaggaggtgcctcactctga	9	13	2	2	rs7726150	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr5:180432416C>T	ENST00000342868.6	+	8	1129	c.945C>T	c.(943-945)ccC>ccT	p.P315P	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GAAAAGCTCCCCAGGAGGTGC	0.547													C|||	2313	0.461861	0.6135	0.4856	5008	,	,		19347	0.3621		0.4414	False		,,,				2504	0.364				p.P315P		.											.	.	0			c.C945T						.						57	63	61					5																	180432416		2193	4295	6488	SO:0001819	synonymous_variant	10917	exon8			AGCTCCCCAGGAG	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.945C>T	5.37:g.180432416C>T		Somatic	219	0		WXS	Illumina GAIIx	Phase_I	206	8	NM_197975	0	0	0	0	0	Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	CCDS47358.1																																																																																			T|1.000;|0.000		0.547	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		T	180432416	C	T	180432416	2	4	34	1	0	0	0	0	0	0	0	1	1570	610	22	3		3	BTNL3	5	180432416	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	23533008	180432416	482844	41	8413											
OR2J2	26707	bcgsc.ca	37	chr6	29141849	29141849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttctgccacttgttggTtgcggcttcttgggtaattg	12	8	2	0	rs3116856	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:29141849T>C	ENST00000377167.2	+	1	539	c.437T>C	c.(436-438)gTt>gCt	p.V146A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	146			A -> V (in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116856). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CACTTGTTGGTTGCGGCTTCT	0.463													C|||	1893	0.377995	0.112	0.451	5008	,	,		21396	0.378		0.5477	False		,,,				2504	0.5112				p.V146A		.											.	OR2J2-68	0			c.T437C						.	C	ALA/VAL	748,3250		75,598,1326	301	276	284		437	2.3	0.4	6	dbSNP_103	284	4513,3831		1237,2039,896	no	missense	OR2J2	NM_030905.2	64	1312,2637,2222	CC,CT,TT		45.9132,18.7094,42.6268	probably-damaging	146/313	29141849	5261,7081	1999	4172	6171	SO:0001583	missense	26707	exon1			TGTTGGTTGCGGC		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.437T>C	6.37:g.29141849T>C	ENSP00000366372:p.Val146Ala	Somatic	254	3		WXS	Illumina GAIIx	Phase_I	206	6	NM_030905	0	0	0	0	0	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	870	0.3983516483516483	59	0.11991869918699187	166	0.4585635359116022	209	0.36538461538461536	436	0.575197889182058	C	0	-2.819406	0.00072	0.187094	0.540868	ENSG00000204700	ENST00000377167	T	0.39056	1.1	2.3	2.3	0.28687	.	.	.	.	.	T	0.05364	0.0142	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.36163	-0.9759	5	0.02654	T	1	.	7.9731	0.30138	0.0:0.8633:0.0:0.1367	rs3116856;rs17737530;rs52793747;rs3116856	.	.	.	A	146	ENSP00000366372:V146A	ENSP00000366372:V146A	V	+	2	0	OR2J2	29249828	0.000000	0.05858	0.369000	0.25952	0.019000	0.09904	-0.161000	0.10026	0.290000	0.22444	-0.971000	0.02607	GTT	T|0.566;C|0.434		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			C	29141849	T	C	29141849	3	2	34	1	0	0	0	0	1	0	0	0	11042	1725	60	4	439	4	OR2J2	6	29141849	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10		29141849	141973218	42	8414											
MUC21	394263	bcgsc.ca	37	chr6	30954659	30954659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcacgacctccagtgGggccagcacagccaccaact	10	17	0	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:30954659G>A	ENST00000376296.3	+	2	948	c.707G>A	c.(706-708)gGg>gAg	p.G236E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	236	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAGCACA	0.647																																					p.G236E		.											.	MUC21-92	0			c.G707A						.																																			SO:0001583	missense	394263	exon2			CCAGTGGGGCCAG	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.707G>A	6.37:g.30954659G>A	ENSP00000365473:p.Gly236Glu	Somatic	153	2		WXS	Illumina GAIIx	Phase_I	140	10	NM_001010909	0	0	0	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	3.324	-0.138033	0.06711	.	.	ENSG00000204544	ENST00000376296	T	0.01947	4.54	3.42	-5.17	0.02849	.	.	.	.	.	T	0.00468	0.0015	L	0.32530	0.975	0.09310	N	1	B	0.28713	0.22	B	0.27887	0.084	T	0.45977	-0.9224	8	.	.	.	-0.1505	1.9355	0.03336	0.3313:0.3546:0.1943:0.1198	.	236	Q5SSG8	MUC21_HUMAN	E	236	ENSP00000365473:G236E	.	G	+	2	0	MUC21	31062638	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.388000	0.01059	-1.361000	0.02169	-0.327000	0.08410	GGG	.		0.647	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954659	G	A	30954659	3	1	34	1	0	0	0	0	1	0	0	0	10015	1232	43	3	713	3	MUC21	6	30954659	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	1812810	30954659	140160408	43	8415											
FGD2	221472	bcgsc.ca	37	chr6	36976637	36976637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagcagcacccagaggccaGaggctagaggacgtgcatca	14	11	1	3	rs831510	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:36976637G>C	ENST00000274963.8	+	2	267	c.96G>C	c.(94-96)caG>caC	p.Q32H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	32			Q -> H (in dbSNP:rs831510). {ECO:0000269|PubMed:15489334}.		actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q32H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCAGAGGCCAGAGGCTAGAGG	0.637													C|||	1632	0.325879	0.264	0.3761	5008	,	,		18864	0.5417		0.2575	False		,,,				2504	0.2219				p.Q32H		.											.	FGD2-229	1	Substitution - Missense(1)	prostate(1)	c.G96C						.	C	HIS/GLN	1276,3130	680.9+/-403.9	197,882,1124	50	57	55		96	2.2	0	6	dbSNP_86	55	2137,6463	696.1+/-404.9	281,1575,2444	yes	missense	FGD2	NM_173558.3	24	478,2457,3568	CC,CG,GG		24.8488,28.9605,26.2417	benign	32/656	36976637	3413,9593	2203	4300	6503	SO:0001583	missense	221472	exon2			AGGCCAGAGGCTA	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.96G>C	6.37:g.36976637G>C	ENSP00000274963:p.Gln32His	Somatic	260	3		WXS	Illumina GAIIx	Phase_I	235	8	NM_173558	0	0	0	0	0	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	777	0.3557692307692308	142	0.2886178861788618	122	0.3370165745856354	311	0.5437062937062938	202	0.26649076517150394	C	0.024	-1.385287	0.01194	0.289605	0.248488	ENSG00000146192	ENST00000274963	T	0.58210	0.35	5.0	2.16	0.27623	.	0.767167	0.11414	N	0.566460	T	0.06142	0.0159	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	9	0.12766	T	0.61	.	4.6034	0.12364	0.0:0.5542:0.1599:0.2858	rs831510;rs17855748;rs17856702;rs52822242;rs57642495;rs831510	32;32	Q7Z6J4;F8WEZ2	FGD2_HUMAN;.	H	32	ENSP00000274963:Q32H	ENSP00000274963:Q32H	Q	+	3	2	FGD2	37084615	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.243000	0.18106	0.157000	0.19338	-0.647000	0.03941	CAG	G|0.699;C|0.301		0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		C	36976637	G	C	36976637	3	2	34	1	0	0	0	0	1	0	0	0	5855	933	33	3	102	3	FGD2	6	36976637	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	6021978	36976637	134138430	44	8416											
SLC17A5	26503	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	74345205	74345205	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagatccacaaaagaaacCaaaatattccaatagtacct	3	11	0	2	rs386833993		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:74345205C>T	ENST00000355773.5	-	6	987	c.719G>A	c.(718-720)tGg>tAg	p.W240*	SLC17A5_ENST00000393019.3_3'UTR|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	240					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAAGAAACCAAAATATTCC	0.264																																					p.W240X		.											.	SLC17A5-190	0			c.G719A	GRCh37	CM003477	SLC17A5	M		.						63	56	59					6																	74345205		2199	4290	6489	SO:0001587	stop_gained	26503	exon6			AGAAACCAAAATA	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.719G>A	6.37:g.74345205C>T	ENSP00000348019:p.Trp240*	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_012434	0	0	0	0	0	Q5SZ76|Q8NBR5|Q9UGH0	Nonsense_Mutation	SNP	ENST00000355773.5	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	38	6.785212	0.97837	.	.	ENSG00000119899	ENST00000355773	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0753	0.93159	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000348019:W240X	W	-	2	0	SLC17A5	74401926	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.888000	0.69758	2.515000	0.84797	0.650000	0.86243	TGG	.		0.264	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			T	74345205	C	T	74345205	4	4	34	1	0	0	0	0	0	1	0	0	14465	595	21	3	792	3	SLC17A5	6	74345205	Nonsense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	37368568	74345205	96769862	45	8417											
FAM46A	55603	broad.mit.edu	37	chr6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-													gcccaccgaagctgccgccaCcgccgaagtcgccgccgccg					rs375746695	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	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-90	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	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	142	42	NM_017633	0	0	0	0	0	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	34	1	0	1	0	1	0	0	0	0	5587	507	18	0	1205	0	FAM46A	6	82461728	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	TCGA-OR-A5KS-01A-11D-A30A-10	8116523	82461728	88653339	46	8418											
HEBP2	23593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	138726347	138726347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgtccgtggagtctatGgactgggattcagccatcca	12	11	2	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:138726347G>A	ENST00000607197.1	+	2	445	c.168G>A	c.(166-168)atG>atA	p.M56I	HEBP2_ENST00000448741.1_Missense_Mutation_p.M67I|HEBP2_ENST00000367697.3_Missense_Mutation_p.M56I	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	56					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGAGTCTATGGACTGGGATT	0.458																																					p.M56I		.											.	HEBP2-90	0			c.G168A						.						132	125	127					6																	138726347		2203	4300	6503	SO:0001583	missense	23593	exon2			GTCTATGGACTGG	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.168G>A	6.37:g.138726347G>A	ENSP00000475750:p.Met56Ile	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	81	29	NM_014320	0	0	0	0	0	Q96P57	Missense_Mutation	SNP	ENST00000607197.1	37	CCDS5191.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688470	0.29962	.	.	ENSG00000051620	ENST00000448741;ENST00000058691;ENST00000367697	T;T;T	0.21361	2.01;2.01;2.01	5.11	5.11	0.69529	Regulatory factor, effector, bacterial (1);	1.096180	0.06819	N	0.791911	T	0.05914	0.0154	N	0.04508	-0.205	0.38021	D	0.934844	B	0.13594	0.008	B	0.12156	0.007	T	0.15263	-1.0443	10	0.35671	T	0.21	.	15.4595	0.75342	0.0:0.0:1.0:0.0	.	56	Q9Y5Z4	HEBP2_HUMAN	I	67;56;56	ENSP00000392101:M67I;ENSP00000058691:M56I;ENSP00000356670:M56I	ENSP00000058691:M56I	M	+	3	0	HEBP2	138768040	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	4.988000	0.63863	2.377000	0.81083	0.555000	0.69702	ATG	.		0.458	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			A	138726347	G	A	138726347	3	1	34	1	0	0	0	0	1	0	0	0	7064	1348	47	3	174	3	HEBP2	6	138726347	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	56264619	138726347	32388720	47	8419											
TBP	6908	hgsc.bcm.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	10	12	0	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	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)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q		.											.	TBP-91	0			c.G180A						.						43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	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.180G>A	6.37:g.170871004G>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	76	7	NM_003194	0	0	0	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	34	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871004	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	32144657	170871004	244063	48	8420											
TBP	6908	hgsc.bcm.edu	37	chr6	170871097	170871097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcaacaggcagtggc	14	13	0	0	rs200496051	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr6:170871097G>A	ENST00000392092.2	+	3	552	c.273G>A	c.(271-273)caG>caA	p.Q91Q	TBP_ENST00000230354.6_Silent_p.Q91Q|TBP_ENST00000540980.1_Silent_p.Q71Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	91	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)		agcagcagcagcagcagcaac	0.617													G|||	38	0.00758786	0.0015	0.0014	5008	,	,		13915	0.0159		0.002	False		,,,				2504	0.0174				p.Q91Q		.											.	TBP-91	0			c.G273A						.						24	30	28					6																	170871097		1944	3761	5705	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAGCAG	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.273G>A	6.37:g.170871097G>A		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	132	9	NM_003194	0	0	0	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871097	G	A	170871097	2	1	34	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871097	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	93	170871097	243970	49	8421											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	34	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		30634661	128504002	50	8422											
CCDC132	55610	broad.mit.edu	37	chr7	92923947	92923948	+	Splice_Site	INS	-	-	G													ggacttacacgaatatggcaINSggtttggtttttttaaaatt					rs140810598		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr7:92923947_92923948insG	ENST00000305866.5	+	14	1294_1295	c.1166_1167insG	c.(1165-1170)caggat>caGggat	p.D390fs	CCDC132_ENST00000535481.1_Splice_Site_p.D110fs|CCDC132_ENST00000317751.6_Splice_Site_p.D121fs|CCDC132_ENST00000544910.1_Splice_Site_p.D360fs|CCDC132_ENST00000541136.1_Splice_Site_p.D201fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	390						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)			CGAATATGGCAGGTTTGGtttt	0.272																																					p.Q389fs		.											.	CCDC132-90	0			c.1166_1167insG						.																																			SO:0001630	splice_region_variant	55610	exon14			TATGGCAGGTTTG	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.1167+1->G	7.37:g.92923949_92923949dupG		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	236	37	NM_017667	0	0	0	0	0	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Ins	INS	ENST00000305866.5	37	CCDS43617.1																																																																																			.		0.272	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Frame_Shift_Ins	G	92923948	-	G	92923947	8	5	34	1	0	1	1	0	0	0	1	0	2774	202	7	0	1262	0	CCDC132	7	92923947	Splice_Site	INS	-	TCGA-OR-A5KS-01A-11D-A30A-10	62289286	92923947	66214716	51	8423											
PABPC1	26986	broad.mit.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		.											.	PABPC1-68	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	148	6	NM_002568	0	0	0	0	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	34	1	0	0	0	0	1	0	0	0	11402	1377	48	3	986	3	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10		101724606	44639416	52	8424											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	34	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5KS-01A-11D-A30A-10	18496170	120220776	26143246	53	8425											
KCNQ3	3786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133144473	133144473	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatgctttggtcttcgAtttctgatgtggatggtctg	11	8	4	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr8:133144473A>T	ENST00000388996.4	-	14	2258	c.1838T>A	c.(1837-1839)aTc>aAc	p.I613N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.I493N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.I601N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	613					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)	TTGGTCTTCGATTTCTGATGT	0.353																																					p.I613N		.											.	KCNQ3-138	0			c.T1838A						.						144	138	140					8																	133144473		2203	4300	6503	SO:0001583	missense	3786	exon14			TCTTCGATTTCTG	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.1838T>A	8.37:g.133144473A>T	ENSP00000373648:p.Ile613Asn	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	135	56	NM_004519	0	0	0	0	0	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926094	0.34002	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99586	-6.23;-6.23;-6.23	5.68	-8.43	0.00953	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	1.292170	0.04732	N	0.421233	D	0.97841	0.9291	N	0.17474	0.49	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.21546	0.035;0.035	D	0.88186	0.2874	10	0.33141	T	0.24	0.6746	20.9464	0.99942	0.2576:0.0:0.7424:0.0	.	601;613	E7ET42;O43525	.;KCNQ3_HUMAN	N	613;493;601;590;492	ENSP00000373648:I613N;ENSP00000429799:I493N;ENSP00000428790:I601N	ENSP00000373648:I613N	I	-	2	0	KCNQ3	133213655	0.003000	0.15002	0.000000	0.03702	0.800000	0.45204	0.431000	0.21444	-1.546000	0.01717	-1.317000	0.01298	ATC	.		0.353	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		T	133144473	A	T	133144473	3	4	34	1	0	0	0	0	1	0	0	0	8111	333	12	5	788	5	KCNQ3	8	133144473	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	12923697	133144473	13219549	54	8426											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	34	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	12888874	146033347	330675	55	8427											
AQP7	364	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr9	33386976	33386976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcactcaccagagatgcGgcctgccacgtgcactccca	10	17	2	1	rs143391243	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr9:33386976G>A	ENST00000539936.1	-	4	497	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	AQP7_ENST00000377425.4_Missense_Mutation_p.R30C|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	87					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)		CCAGAGATGCGGCCTGCCACG	0.577													g|||	13	0.00259585	0.0098	0	5008	,	,		19052	0		0	False		,,,				2504	0				p.R87C		.											.	AQP7-90	0			c.C259T						.	A	CYS/ARG	17,4389	16.8+/-37.8	0,17,2186	100	98	99		259	-2.7	0.8	9	dbSNP_134	99	0,8600		0,0,4300	no	missense	AQP7	NM_001170.1	180	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign	87/343	33386976	17,12989	2203	4300	6503	SO:0001583	missense	364	exon4			AGATGCGGCCTGC	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	ENST00000539936.1:c.259C>T	9.37:g.33386976G>A	ENSP00000439534:p.Arg87Cys	Somatic	237	0		WXS	Illumina GAIIx	Phase_I	242	33	NM_001170	0	0	0	0	0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37		.	.	.	.	.	.	.	.	.	.	g	7.041	0.562480	0.13498	0.003858	0.0	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000377425;ENST00000379506;ENST00000539936	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	3.41	-2.72	0.05968	Aquaporin-like (2);	0.688639	0.14629	N	0.307953	T	0.75421	0.3847	L	0.43701	1.375	0.50171	D	0.999855	B;B;B;B	0.19331	0.005;0.001;0.035;0.004	B;B;B;B	0.18561	0.004;0.008;0.022;0.008	T	0.59434	-0.7455	10	0.62326	D	0.03	-0.5471	6.8112	0.23805	0.0:0.5909:0.1844:0.2247	.	86;87;30;87	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	C	86;87;30;86;87	ENSP00000368821:R86C;ENSP00000297988:R87C;ENSP00000396111:R30C;ENSP00000368820:R86C;ENSP00000439534:R87C	ENSP00000297988:R87C	R	-	1	0	AQP7	33376976	0.000000	0.05858	0.828000	0.32881	0.068000	0.16541	0.104000	0.15313	-0.501000	0.06605	-1.103000	0.02113	CGC	G|0.999;A|0.001		0.577	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33386976	G	A	33386976	3	1	34	1	0	0	0	0	1	0	0	0	831	1116	39	1	789	1	AQP7	9	33386976	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10		33386976	107826455	56	8428											
AKNA	80709	bcgsc.ca	37	chr9	117124731	117124731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccttggagccggcaagcGgctgggcagggtgttgctcc	16	13	0	0	rs3748176	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr9:117124731G>A	ENST00000307564.4	-	8	2032	c.1871C>T	c.(1870-1872)cCg>cTg	p.P624L	AKNA_ENST00000223791.3_Missense_Mutation_p.P84L|AKNA_ENST00000374075.5_Missense_Mutation_p.P543L|AKNA_ENST00000312033.3_Missense_Mutation_p.P624L|AKNA_ENST00000374088.3_Missense_Mutation_p.P624L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	624			P -> L (in dbSNP:rs3748176). {ECO:0000269|PubMed:11853319, ECO:0000269|PubMed:14702039}.		positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P624L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCGGCAAGCGGCTGGGCAGG	0.657													g|||	1924	0.384185	0.115	0.4798	5008	,	,		16480	0.3869		0.506	False		,,,				2504	0.5521				p.P624L		.											.	AKNA-94	1	Substitution - Missense(1)	stomach(1)	c.C1871T						.		LEU/PRO	828,3578	320.2+/-296.5	83,662,1458	30	35	33		1871	-0.4	0	9	dbSNP_107	33	4570,4030	582.2+/-391.4	1195,2180,925	yes	missense	AKNA	NM_030767.4	98	1278,2842,2383	AA,AG,GG		46.8605,18.7926,41.5039	possibly-damaging	624/1440	117124731	5398,7608	2203	4300	6503	SO:0001583	missense	80709	exon8			GCAAGCGGCTGGG	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1871C>T	9.37:g.117124731G>A	ENSP00000303769:p.Pro624Leu	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_030767	0	0	0	0	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	833	0.3814102564102564	55	0.11178861788617886	179	0.494475138121547	218	0.3811188811188811	381	0.5026385224274407	g	10.14	1.267287	0.23136	0.187926	0.531395	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.7	-0.371	0.12525	.	0.691128	0.12739	N	0.443148	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	P;B	0.38110	0.618;0.072	B;B	0.31946	0.138;0.009	T	0.44847	-0.9301	9	0.07990	T	0.79	-4.3767	4.4668	0.11692	0.0:0.1894:0.3545:0.4561	rs3748176;rs3748176	624;543	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	624;465;624;84;543;624	ENSP00000303769:P624L;ENSP00000363201:P624L;ENSP00000223791:P84L;ENSP00000363188:P543L;ENSP00000309222:P624L	ENSP00000223791:P84L	P	-	2	0	AKNA	116164552	0.048000	0.20356	0.001000	0.08648	0.003000	0.03518	0.347000	0.20014	-0.219000	0.10003	-0.422000	0.05995	CCG	G|0.599;A|0.401		0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117124731	G	A	117124731	3	1	34	1	0	0	0	0	1	0	0	0	463	1116	39	1	2508	1	AKNA	9	117124731	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	83737755	117124731	24088700	57	8429											
ASTN2	23245	broad.mit.edu	37	chr9	119448979	119448979	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgggttcccgggtaccttCagtctgcagggacaggggct	15	10	2	0	rs10983304	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr9:119448979C>T	ENST00000313400.4	-	17	2907				ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000450136.1_5'Flank|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000288520.5_Missense_Mutation_p.E36K|ASTN2_ENST00000358637.4_Intron|ASTN2_ENST00000341734.4_Intron|TRIM32_ENST00000373983.2_5'Flank			O75129	ASTN2_HUMAN	astrotactin 2						negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGGTACCTTCAGTCTGCAGG	0.542													C|||	60	0.0119808	0.0015	0.013	5008	,	,		19721	0		0.0288	False		,,,				2504	0.0204				p.E36K		.											.	ASTN2-161	0			c.G106A						.																																			SO:0001627	intron_variant	23245	exon1			TACCTTCAGTCTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2807-34907G>A	9.37:g.119448979C>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	121	4	NM_198186	0	0	0	0	0	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		33	0.01510989010989011	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	26	0.03430079155672823	C	13.53	2.264293	0.39995	.	.	ENSG00000148219	ENST00000288520	T	0.13307	2.6	3.9	0.998	0.19857	.	.	.	.	.	T	0.02012	0.0063	.	.	.	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	7	.	.	.	.	4.1278	0.10134	0.0:0.5889:0.1934:0.2177	rs10983304;rs52793392;rs10983304	36	O75129-4	.	K	36	ENSP00000288520:E36K	.	E	-	1	0	ASTN2	118488800	0.041000	0.20044	0.006000	0.13384	0.020000	0.10135	0.363000	0.20301	0.224000	0.20940	0.555000	0.69702	GAA	C|0.979;T|0.021		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119448979	C	T	119448979	1	4	34	0	1	0	0	0	0	0	0	0	1066	835	29	3		3	ASTN2	9	119448979	Intron	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	2324248	119448979	21764452	58	8430											
LMX1B	4010	broad.mit.edu	37	chr9	129376842	129376843	+	Frame_Shift_Ins	INS	-	-	C													agcacgccctgcgccccgggINScccgccactctgggggtgct							TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr9:129376842_129376843insC	ENST00000373474.4	+	1	121_122	c.114_115insC	c.(115-117)cccfs	p.P39fs	LMX1B_ENST00000355497.5_Frame_Shift_Ins_p.P39fs|LMX1B_ENST00000526117.1_Frame_Shift_Ins_p.P39fs|RP11-123K19.1_ENST00000425370.1_RNA|LMX1B_ENST00000425646.2_Frame_Shift_Ins_p.P16fs|RP11-123K19.1_ENST00000451449.2_RNA|RP11-123K19.1_ENST00000432418.1_RNA|LMX1B_ENST00000561065.1_Frame_Shift_Ins_p.P16fs			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	39					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	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)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGCGCCCCGGGCCCGCCACTCT	0.708									Nail-Patella Syndrome																												p.G38fs	Pancreas(110;1796 2278 18357 20466)	.											.	LMX1B-90	0			c.114_115insC						.																																			SO:0001589	frameshift_variant	4010	exon1	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	CCCCGGGCCCGCC	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.117dupC	9.37:g.129376845_129376845dupC	ENSP00000362573:p.Pro39fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	104	8	NM_002316	0	0	0	0	0	F8W7W6|O75463|Q5JU95|Q6ISC9	Frame_Shift_Ins	INS	ENST00000373474.4	37	CCDS55342.1																																																																																			.		0.708	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			C	129376843	-	C	129376842	7	5	34	1	0	1	1	0	0	0	0	0	8892	1190	42	0	116	0	LMX1B	9	129376842	Frame_Shift_Ins	INS	-	TCGA-OR-A5KS-01A-11D-A30A-10	9927863	129376842	11836589	59	8431											
SVIL	6840	bcgsc.ca	37	chr10	29821523	29821523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgggcgacagagacTtttgtgtccagcatgctgat	14	9	0	2	rs1328323	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr10:29821523T>C	ENST00000355867.4	-	8	2525	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K	SVIL_ENST00000375398.2_Silent_p.K591K|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	591					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGACAGAGACTTTTGTGTCCA	0.577													C|||	1489	0.297324	0.3351	0.3818	5008	,	,		20218	0.0764		0.4245	False		,,,				2504	0.2832				p.K591K		.											.	SVIL-96	0			c.A1773G						.	C	,	1556,2850	669.8+/-402.2	283,990,930	71	65	67		,1773	4.5	1	10	dbSNP_88	67	3807,4793	611.6+/-395.8	843,2121,1336	no	intron,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	1126,3111,2266	CC,CT,TT		44.2674,35.3155,41.2348	,	,591/2215	29821523	5363,7643	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon8			AGAGACTTTTGTG	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1773A>G	10.37:g.29821523T>C		Somatic	178	1		WXS	Illumina GAIIx	Phase_I	135	5	NM_021738	0	0	0	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			C|0.381;G|0.000;T|0.619		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29821523	T	C	29821523	2	2	34	1	0	0	0	0	0	0	0	1	15468	1606	56	4		4	SVIL	10	29821523	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10		29821523	105713224	60	8432											
SFTPD	6441	bcgsc.ca	37	chr10	81706324	81706324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgcaagcactgggcAttgttctgtgggagtaggtc	16	8	1	0	rs721917	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr10:81706324A>G	ENST00000372292.3	-	2	132	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	31			M -> T (in dbSNP:rs721917). {ECO:0000269|PubMed:1339284, ECO:0000269|PubMed:19100526, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGCACTGGGCATTGTTCTGTG	0.617													g|||	2527	0.504593	0.4009	0.379	5008	,	,		20859	0.6151		0.4205	False		,,,				2504	0.7065				p.M31T		.											.	SFTPD-91	0			c.T92C	GRCh37	CM021324	SFTPD	M	rs721917	.	G	THR/MET	1769,2637	643.9+/-397.9	376,1017,810	122	102	109		92	-1.4	0	10	dbSNP_86	109	3610,4990	626.4+/-397.8	761,2088,1451	yes	missense	SFTPD	NM_003019.4	81	1137,3105,2261	GG,GA,AA		41.9767,40.1498,41.3578	benign	31/376	81706324	5379,7627	2203	4300	6503	SO:0001583	missense	6441	exon2			CTGGGCATTGTTC	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.92T>C	10.37:g.81706324A>G	ENSP00000361366:p.Met31Thr	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	99	5	NM_003019	0	0	0	0	0	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	1021	0.4674908424908425	202	0.4105691056910569	149	0.4116022099447514	357	0.6241258741258742	313	0.4129287598944591	G	7.685	0.689886	0.15039	0.401498	0.419767	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.91068	-2.62;-2.78	5.59	-1.35	0.09114	.	1.689840	0.03546	N	0.224694	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25779	-1.0122	9	0.10636	T	0.68	0.1384	6.1062	0.20075	0.576:0.0:0.3085:0.1155	rs721917;rs3750874;rs17887190;rs52794086;rs58664997;rs721917	31	P35247	SFTPD_HUMAN	T	31;44	ENSP00000361366:M31T;ENSP00000394325:M44T	ENSP00000361366:M31T	M	-	2	0	SFTPD	81696304	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.298000	0.08265	-0.475000	0.06852	-1.088000	0.02184	ATG	A|0.559;G|0.441		0.617	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			G	81706324	A	G	81706324	3	3	34	1	0	0	0	0	1	0	0	0	14238	217	8	4	1063	4	SFTPD	10	81706324	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	51884801	81706324	53828423	61	8433											
HECTD2	143279	hgsc.bcm.edu	37	chr10	93170250	93170250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctggtggtggcggcgCccgcgcctgaggagaggaaa	18	12	0	2	rs7081569		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr10:93170250C>G	ENST00000298068.5	+	1	149	c.55C>G	c.(55-57)Ccc>Gcc	p.P19A	HECTD2_ENST00000446394.1_Missense_Mutation_p.P19A|HECTD2_ENST00000371681.4_Missense_Mutation_p.P19A	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	19			P -> A (in dbSNP:rs7081569). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTGGCGGCGCCCGCGCCTGA	0.761													G|||	5008	1	1	1	5008	,	,		7483	1		1	False		,,,				2504	1				p.P19A	NSCLC(12;376 469 1699 39910 41417)	.											.	HECTD2-658	0			c.C55G						.						2	2	2					10																	93170250		1173	2544	3717	SO:0001583	missense	143279	exon1			GCGGCGCCCGCGC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.55C>G	10.37:g.93170250C>G	ENSP00000298068:p.Pro19Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_182765	0	0	0	0	0	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	1998	0.9148351648351648	429	0.8719512195121951	335	0.925414364640884	529	0.9248251748251748	705	0.9300791556728232	g	1.760	-0.486925	0.04352	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.36699	1.5;1.24;1.5	2.37	2.37	0.29283	.	0.964307	0.08409	N	0.950145	T	0.00012	0.0000	N	0.00538	-1.39	0.46241	P	0.001052000000000053	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32534	-0.9903	9	0.02654	T	1	.	7.1033	0.25351	0.0:0.2826:0.7174:0.0	rs7081569	19;19;19	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	A	19	ENSP00000401023:P19A;ENSP00000360746:P19A;ENSP00000298068:P19A	ENSP00000298068:P19A	P	+	1	0	HECTD2	93160230	0.858000	0.29795	0.231000	0.23993	0.735000	0.41995	-0.544000	0.06077	0.556000	0.29098	-0.370000	0.07254	CCC	C|0.154;G|0.846		0.761	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			G	93170250	C	G	93170250	3	3	34	1	0	0	0	0	1	0	0	0	7067	739	26	3	57	3	HECTD2	10	93170250	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	11463926	93170250	42364497	62	8434											
NOC3L	64318	broad.mit.edu	37	chr10	96109888	96109888	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaattttgacatgtcattCatgagagggacaatcaatac	7	8	3	2	rs149695235	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr10:96109888C>T	ENST00000371361.3	-	9	1210	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.M370I|NOC3L_ENST00000543788.1_Missense_Mutation_p.M108I	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	370					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATGTCATTCATGAGAGGGA	0.448													C|||	3	0.000599042	0	0.0014	5008	,	,		19745	0		0.001	False		,,,				2504	0.001				p.M370I		.											.	NOC3L-91	0			c.G1110A						.	C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	194	176	182		1110	5.8	1	10	dbSNP_134	182	21,8579	15.3+/-51.7	0,21,4279	yes	missense	NOC3L	NM_022451.9	10	0,22,6481	TT,TC,CC		0.2442,0.0227,0.1692	benign	370/801	96109888	22,12984	2203	4300	6503	SO:0001583	missense	64318	exon9			GTCATTCATGAGA	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1110G>A	10.37:g.96109888C>T	ENSP00000360412:p.Met370Ile	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	136	4	NM_022451	0	0	0	0	0	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	14.60	2.583027	0.46006	2.27E-4	0.002442	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.64991	-0.13;1.56;1.56	5.83	5.83	0.93111	Armadillo-like helical (1);	0.038085	0.85682	D	0.000000	T	0.53867	0.1823	L	0.51914	1.62	0.49051	D	0.999746	B	0.32939	0.391	B	0.20955	0.032	T	0.52646	-0.8548	10	0.34782	T	0.22	-20.8105	15.5825	0.76455	0.0:0.863:0.137:0.0	.	370	Q8WTT2	NOC3L_HUMAN	I	108;370;370	ENSP00000437838:M108I;ENSP00000360412:M370I;ENSP00000360401:M370I	ENSP00000360401:M370I	M	-	3	0	NOC3L	96099878	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	5.696000	0.68287	2.775000	0.95449	0.650000	0.86243	ATG	C|0.998;T|0.002		0.448	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		T	96109888	C	T	96109888	3	4	34	1	0	0	0	0	1	0	0	0	10553	826	29	3	1344	3	NOC3L	10	96109888	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	2939638	96109888	39424859	63	8435											
LZTS2	84445	broad.mit.edu	37	chr10	102766682	102766682	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggagcggcggcggggTgaggagcagcgggacagctt	22	9	0	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr10:102766682T>G	ENST00000370220.1	+	4	4830	c.1767T>G	c.(1765-1767)ggT>ggG	p.G589G	LZTS2_ENST00000370223.3_Silent_p.G589G					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGCGGCGGGGTGAGGAGCAGC	0.682																																					p.G589G	Esophageal Squamous(8;38 437 13604 19902 37640)	.											.	LZTS2-155	0			c.T1767G						.						21	13	16					10																	102766682		2080	4135	6215	SO:0001819	synonymous_variant	84445	exon5			GCGGGGTGAGGAG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1767T>G	10.37:g.102766682T>G		Somatic	17	0		WXS	Illumina GAIIx	Phase_I	104	26	NM_032429	0	0	0	0	0		Silent	SNP	ENST00000370220.1	37	CCDS7507.1																																																																																			.		0.682	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		G	102766682	T	G	102766682	2	3	34	1	0	0	0	0	0	0	0	1	9175	1683	59	5		5	LZTS2	10	102766682	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	6656794	102766682	32768065	64	8436											
MUC2	4583	bcgsc.ca	37	chr11	1093312	1093312	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccactacggtgaccccaaccCcaacacccaccggcacacag	6	21	0	1			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:1093312C>G	ENST00000441003.2	+	30	5158	c.5131C>G	c.(5131-5133)Cca>Gca	p.P1711A	MUC2_ENST00000359061.5_Missense_Mutation_p.P1678A|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gaccccaaccccaacacccac	0.637																																					p.P1711A		.											.	MUC2-90	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	Somatic	115	3		WXS	Illumina GAIIx	Phase_I	152	11	NM_002457	0	0	0	0	0	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	34	1	0	0	0	0	1	0	0	0	10013	623	22	3	5249	3	MUC2	11	1093312	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		1093312	133913204	65	8437											
MUC2	4583	bcgsc.ca	37	chr11	1093375	1093375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccactacggtgaccCcaaccccaacacccaccggc	5	23	0	1	rs552937801	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:1093375C>T	ENST00000441003.2	+	30	5221	c.5194C>T	c.(5194-5196)Cca>Tca	p.P1732S	MUC2_ENST00000359061.5_Missense_Mutation_p.P1699S|MUC2_ENST00000333592.6_Missense_Mutation_p.P20S|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)	tacggtgaccccaaccccaac	0.657																																					p.P1732S		.											.	MUC2-90	0			c.C5194T						.																																			SO:0001583	missense	4583	exon30			GTGACCCCAACCC	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.5194C>T	11.37:g.1093375C>T	ENSP00000415183:p.Pro1732Ser	Somatic	132	2		WXS	Illumina GAIIx	Phase_I	172	14	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214378	0.01555	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.10288	3.1;3.17;2.89	1.49	-1.27	0.09347	.	498.391000	0.02047	N	0.049780	T	0.06050	0.0157	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	9	0.20519	T	0.43	.	2.7543	0.05288	0.4674:0.3566:0.0:0.176	.	1732	E7EUV1	.	S	1732;1699;20	ENSP00000415183:P1732S;ENSP00000351956:P1699S;ENSP00000331373:P20S	ENSP00000331373:P20S	P	+	1	0	MUC2	1083375	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.627000	0.00874	-0.601000	0.05783	-1.152000	0.01820	CCA	.		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093375	C	T	1093375	3	4	34	1	0	0	0	0	1	0	0	0	10013	623	22	3	5312	3	MUC2	11	1093375	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	63	1093375	133913141	66	8438											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651157	1651157	+	Frame_Shift_Del	DEL	A	A	-													ggctgtggctccggctgtggAggctgtggctctggctgtgg							TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:1651157delA	ENST00000399676.2	+	1	125	c.87delA	c.(85-87)ggafs	p.G30fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						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)		ccggctgtggaggctgtggct	0.711																																					p.G29fs		.											.	KRTAP5-5-23	0			c.87delA						.						25	36	33					11																	1651157		2116	4203	6319	SO:0001589	frameshift_variant	439915	exon1			CTGTGGAGGCTGT	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.87delA	11.37:g.1651157delA	ENSP00000382584:p.Gly30fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	114	7	NM_001001480	0	0	0	0	0	A8MWN2	Frame_Shift_Del	DEL	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.711	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			-	1651157	A	-	1651157	7	5	34	1	0	1	0	1	0	0	0	0	8592	291	11	0	89	0	KRTAP5-5	11	1651157	Frame_Shift_Del	DEL	A	TCGA-OR-A5KS-01A-11D-A30A-10	557782	1651157	133355359	67	8439	72	2									
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651159	1651169	+	Frame_Shift_Del	DEL	GCTGTGGCTCT	GCTGTGGCTCT	-													ctgtggctccggctgtggagGctgtggctctggctgtgggg					rs71454095|rs71454094	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:1651159_1651169delGCTGTGGCTCT	ENST00000399676.2	+	1	127_137	c.89_99delGCTGTGGCTCT	c.(88-99)ggctgtggctctfs	p.GCGS30fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						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)		ggctgtggaggctgtggctctggctgtgggg	0.711																																					p.30_33del		.											.	KRTAP5-5-23	0			c.89_99del						.			98,3952		6,86,1933						0.1	0			32	211,7787		8,195,3796	no	frameshift	KRTAP5-5	NM_001001480.2		14,281,5729	A1A1,A1R,RR		2.6382,2.4198,2.5647				309,11739				SO:0001589	frameshift_variant	439915	exon1			GTGGAGGCTGTGG	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.89_99delGCTGTGGCTCT	11.37:g.1651159_1651169delGCTGTGGCTCT	ENSP00000382584:p.Gly30fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	110	7	NM_001001480	0	0	0	0	0	A8MWN2	Frame_Shift_Del	DEL	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.711	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			-	1651169	GCTGTGGCTCT	-	1651159	7	5	34	1	0	1	0	1	0	0	0	0	8592	1203	42	0	91	0	KRTAP5-5	11	1651159	Frame_Shift_Del	DEL	GCTGTGGCTCT	TCGA-OR-A5KS-01A-11D-A30A-10	2	1651159	133355357	68	8440	72	2									
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	34	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	207413	1858572	133147944	69	8441											
OR52R1	119695	bcgsc.ca	37	chr11	4825349	4825349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagcatgaaaccagaAtatggccaacatcttaggtt	8	9	2	3	rs17327254	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:4825349A>G	ENST00000356069.2	-	1	261	c.262T>C	c.(262-264)Ttc>Ctc	p.F88L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.F167L	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	88			F -> L (in dbSNP:rs17327254).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAAACCAGAATATGGCCAAC	0.517													A|||	157	0.0313498	0.0053	0.0548	5008	,	,		23740	0		0.0964	False		,,,				2504	0.0153				p.F88L		.											.	OR52R1-69	0			c.T262C						.	A	LEU/PHE	107,4295	82.4+/-120.9	1,105,2095	143	127	133		262	-2.7	0.5	11	dbSNP_123	133	845,7751	194.8+/-240.1	47,751,3500	yes	missense	OR52R1	NM_001005177.3	22	48,856,5595	GG,GA,AA		9.8302,2.4307,7.3242	benign	88/316	4825349	952,12046	2201	4298	6499	SO:0001583	missense	119695	exon1			ACCAGAATATGGC	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.262T>C	11.37:g.4825349A>G	ENSP00000348368:p.Phe88Leu	Somatic	210	2		WXS	Illumina GAIIx	Phase_I	195	7	NM_001005177	0	0	0	0	0	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	101	0.04624542124542125	2	0.0040650406504065045	25	0.06906077348066299	0	0.0	74	0.09762532981530343	A	12.39	1.922678	0.33908	0.024307	0.098302	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00912	5.55;5.55	5.57	-2.66	0.06077	GPCR, rhodopsin-like superfamily (1);	0.443885	0.19125	N	0.122063	T	0.00039	0.0001	L	0.31845	0.965	0.53688	P	2.6999999999999247E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.38714	-0.9648	9	0.46703	T	0.11	.	13.3316	0.60490	0.8457:0.0:0.1543:0.0	rs17327254;rs52793345;rs17327254	88	Q8NGF1	O52R1_HUMAN	L	88;167	ENSP00000348368:F88L;ENSP00000369742:F167L	ENSP00000348368:F88L	F	-	1	0	OR52R1	4781925	0.013000	0.17824	0.458000	0.27068	0.944000	0.59088	0.193000	0.17116	-0.316000	0.08690	0.528000	0.53228	TTC	A|0.937;G|0.063		0.517	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		G	4825349	A	G	4825349	3	3	34	1	0	0	0	0	1	0	0	0	11170	101	4	4	688	4	OR52R1	11	4825349	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	2966777	4825349	130181167	70	8442											
OR52E2	119678	bcgsc.ca	37	chr11	5080844	5080844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgaaactgggtgtcaTtgggaaggaacatcctgctt	15	6	1	1	rs16909440	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:5080844T>C	ENST00000321522.2	-	1	13	c.14A>G	c.(13-15)aAt>aGt	p.N5S		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	5			N -> S (in dbSNP:rs16909440).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGGGTGTCATTGGGAAGGAA	0.498													T|||	1548	0.309105	0.1853	0.353	5008	,	,		20137	0.3829		0.3241	False		,,,				2504	0.3538				p.N5S		.											.	OR52E2-71	0			c.A14G						.	T	SER/ASN	969,3433	364.4+/-316.9	112,745,1344	86	78	81		14	3.6	0.1	11	dbSNP_123	81	3017,5579	465.4+/-366.5	536,1945,1817	yes	missense	OR52E2	NM_001005164.2	46	648,2690,3161	CC,CT,TT		35.0977,22.0127,30.6663	probably-damaging	5/326	5080844	3986,9012	2201	4298	6499	SO:0001583	missense	119678	exon1			GTGTCATTGGGAA	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.14A>G	11.37:g.5080844T>C	ENSP00000322088:p.Asn5Ser	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	96	6	NM_001005164	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	703	0.3218864468864469	102	0.2073170731707317	141	0.38950276243093923	219	0.38286713286713286	241	0.3179419525065963	T	14.76	2.632936	0.47049	0.220127	0.350977	ENSG00000176787	ENST00000321522	T	0.63913	-0.07	3.61	3.61	0.41365	.	0.000000	0.51477	D	0.000083	T	0.00012	0.0000	M	0.69823	2.125	0.38469	P	0.05258499999999999	D	0.53885	0.963	P	0.49140	0.601	T	0.34428	-0.9829	9	0.72032	D	0.01	.	7.0024	0.24817	0.0:0.1073:0.0:0.8927	rs16909440;rs52834501;rs16909440	5	Q8NGJ4	O52E2_HUMAN	S	5	ENSP00000322088:N5S	ENSP00000322088:N5S	N	-	2	0	OR52E2	5037420	0.130000	0.22417	0.051000	0.19133	0.011000	0.07611	0.736000	0.26130	1.885000	0.54596	0.533000	0.62120	AAT	C|0.306;N|0.000		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		C	5080844	T	C	5080844	3	2	34	1	0	0	0	0	1	0	0	0	11154	1493	52	4	966	4	OR52E2	11	5080844	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	255495	5080844	129925672	71	8443											
WT1	7490	hgsc.bcm.edu	37	chr11	32456694	32456694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagcccatttgctgCggctcagacccggacgcccc	12	17	1	1	rs2234582	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1_ENST00000448076.3_Silent_p.P66P|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000525436.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2	3	3		198,198,198	1.2	0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456694	C	A	32456694	2	1	34	1	0	0	0	0	0	0	0	1	17457	755	27	2		2	WT1	11	32456694	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	27375850	32456694	102549822	72	8444											
CKAP5	9793	bcgsc.ca	37	chr11	46784697	46784697	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaagataagatccaggcaAccaataactccttctttttc	4	10	1	2	rs7928445	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:46784697A>C	ENST00000529230.1	-	30	3766	c.3720T>G	c.(3718-3720)ggT>ggG	p.G1240G	CKAP5_ENST00000354558.3_Silent_p.G1240G|CKAP5_ENST00000312055.5_Silent_p.G1240G|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.G1240G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1240					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						GATCCAGGCAACCAATAACTC	0.343													A|||	638	0.127396	0.3381	0.049	5008	,	,		19215	0.001		0.0875	False		,,,				2504	0.0695				p.G1240G	Ovarian(4;85 273 2202 4844 13323)	.											.	CKAP5-92	0			c.T3720G						.	A	,	1356,3046	441.0+/-346.2	216,924,1061	149	164	159		3720,3720	1.8	1	11	dbSNP_116	159	793,7805	183.5+/-231.7	43,707,3549	no	coding-synonymous,coding-synonymous	CKAP5	NM_001008938.3,NM_014756.3	,	259,1631,4610	CC,CA,AA		9.2231,30.8042,16.5308	,	1240/2033,1240/1973	46784697	2149,10851	2201	4299	6500	SO:0001819	synonymous_variant	9793	exon30			CAGGCAACCAATA		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.3720T>G	11.37:g.46784697A>C		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	84	5	NM_001008938	0	0	0	0	0	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	CCDS31477.1																																																																																			A|0.851;C|0.149		0.343	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		C	46784697	A	C	46784697	2	2	34	1	0	0	0	0	0	0	0	1	3452	30	2	5		5	CKAP5	11	46784697	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	14328003	46784697	88221819	73	8445											
OR5M11	219487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	56310261	56310261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaaggtcaggatggccTggaagagtccatctgagaag	17	7	2	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:56310261T>C	ENST00000528616.2	-	1	496	c.473A>G	c.(472-474)cAg>cGg	p.Q158R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	158						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						CAGGATGGCCTGGAAGAGTCC	0.493																																					p.Q158R		.											.	.	0			c.A473G						.						42	45	44					11																	56310261		2093	4240	6333	SO:0001583	missense	219487	exon1			ATGGCCTGGAAGA	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.473A>G	11.37:g.56310261T>C	ENSP00000432417:p.Gln158Arg	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	120	38	NM_001005245	0	0	0	0	0	B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964706	0.53507	.	.	ENSG00000255223	ENST00000528616	T	0.00115	8.71	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.51914	1.62	0.35051	D	0.760685	D	0.60575	0.988	D	0.64877	0.93	T	0.82754	-0.0301	9	0.87932	D	0	.	12.7091	0.57080	0.0:0.0:0.0:1.0	.	158	Q96RB7	OR5MB_HUMAN	R	158	ENSP00000432417:Q158R	ENSP00000432417:Q158R	Q	-	2	0	OR5M11	56066837	0.075000	0.21258	0.688000	0.30117	0.258000	0.26162	2.734000	0.47368	2.227000	0.72691	0.514000	0.50259	CAG	.		0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		C	56310261	T	C	56310261	3	2	34	1	0	0	0	0	1	0	0	0	11213	1580	55	4	447	4	OR5M11	11	56310261	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	9525564	56310261	78696255	74	8446											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000345348.5_Silent_p.P52P|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	34	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	8569829	64880090	70126426	75	8447											
RHOD	29984	ucsc.edu	37	chr11	66834252	66834252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccctgttctaccctgaCgccagcgtcctgctgctttg	10	17	1	1	rs2282502	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:66834252C>T	ENST00000308831.2	+	3	349	c.264C>T	c.(262-264)gaC>gaT	p.D88D	RHOD_ENST00000533360.1_Silent_p.D88D|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	88					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TCTACCCTGACGCCAGCGTCC	0.617													c|||	1912	0.381789	0.1566	0.5115	5008	,	,		19622	0.4524		0.3628	False		,,,				2504	0.5409				p.D88D		.											.	RHOD-659	0			c.C264T						.	T		832,3568	327.7+/-300.2	82,668,1450	160	144	149		264	-9.8	0.1	11	dbSNP_100	149	3126,5464	476.4+/-369.4	574,1978,1743	no	coding-synonymous	RHOD	NM_014578.3		656,2646,3193	TT,TC,CC		36.3912,18.9091,30.4696		88/211	66834252	3958,9032	2200	4295	6495	SO:0001819	synonymous_variant	29984	exon3			CCCTGACGCCAGC	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.264C>T	11.37:g.66834252C>T		Somatic	84	1		WXS	Illumina GAIIx	Phase_I	53	6	NM_014578	0	0	0	0	0		Silent	SNP	ENST00000308831.2	37	CCDS8155.1																																																																																			C|0.683;G|0.000;T|0.317		0.617	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		T	66834252	C	T	66834252	2	4	34	1	0	0	0	0	0	0	0	1	13382	535	19	1		1	RHOD	11	66834252	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	1954162	66834252	68172264	76	8448											
UNC93B1	81622	broad.mit.edu	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	10	15	2	0			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.		.											.	.	0			.						.						10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G		Somatic	82	1		WXS	Illumina GAIIx	Phase_I	77	7	.	0	0	0	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																				.		0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		G	67763107	A	G	67763107	2	3	34	1	0	0	0	0	0	0	0	1	17046	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	928855	67763107	67243409	77	8449											
ARHGAP20	57569	bcgsc.ca	37	chr11	110450453	110450453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accagaagcatgtgggggtgGctctaagggtccttttggag	16	7	1	1	rs149514977		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:110450453G>T	ENST00000260283.4	-	16	3501	c.3217C>A	c.(3217-3219)Cca>Aca	p.P1073T	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P1047T|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P616T|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P1047T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P1037T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P1050T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P1037T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1073					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGGGGGTGGCTCTAAGGGT	0.498																																					p.P1073T		.											.	ARHGAP20-230	0			c.C3217A						.						90	100	97					11																	110450453		2201	4298	6499	SO:0001583	missense	57569	exon16			GGGGTGGCTCTAA	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3217C>A	11.37:g.110450453G>T	ENSP00000260283:p.Pro1073Thr	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_020809	0	0	0	0	0	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387991	0.42308	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.08;3.02;3.03;3.02;3.03	5.9	2.86	0.33363	.	0.866215	0.09950	N	0.734827	T	0.06781	0.0173	L	0.40543	1.245	0.09310	N	1	B;B;B	0.31548	0.328;0.1;0.328	B;B;B	0.30495	0.079;0.054;0.116	T	0.44251	-0.9340	10	0.13853	T	0.58	.	5.4232	0.16411	0.2668:0.1465:0.5867:0.0	.	1047;1073;1050	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	T	1073;1047;616;1050;1037;1047;1037	ENSP00000260283:P1073T;ENSP00000349660:P1047T;ENSP00000437905:P616T;ENSP00000432076:P1050T;ENSP00000436319:P1037T;ENSP00000436522:P1047T;ENSP00000431399:P1037T	ENSP00000260283:P1073T	P	-	1	0	ARHGAP20	109955663	0.376000	0.25098	0.018000	0.16275	0.558000	0.35554	0.954000	0.29175	0.320000	0.23234	0.650000	0.86243	CCA	G|1.000;C|0.000		0.498	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110450453	G	T	110450453	3	4	34	1	0	0	0	0	1	0	0	0	870	1203	42	3	362	3	ARHGAP20	11	110450453	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	42687346	110450453	24556063	78	8450											
DRD2	1813	bcgsc.ca	37	chr11	113283459	113283459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtttggcggggctgtcGggagtgctgtggagaccatg	19	7	1	1	rs6277	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr11:113283459G>A	ENST00000362072.3	-	7	1301	c.957C>T	c.(955-957)ccC>ccT	p.P319P	DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Silent_p.P319P|DRD2_ENST00000355319.2_Silent_p.P321P|DRD2_ENST00000538967.1_Silent_p.P321P|DRD2_ENST00000544518.1_Silent_p.P318P|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.P290P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	319	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGGGCTGTCGGGAGTGCTGT	0.617													G|||	1222	0.24401	0.0552	0.3256	5008	,	,		14821	0.0625		0.5437	False		,,,				2504	0.32				p.P319P		.											.	DRD2-92	0			c.C957T	GRCh37	CM030215	DRD2	M	rs6277	.	G	,	628,3774	272.8+/-271.0	49,530,1622	116	98	104		957,870	-9.2	0	11	dbSNP_52	104	4685,3907	604.2+/-394.8	1292,2101,903	no	coding-synonymous,coding-synonymous	DRD2	NM_000795.3,NM_016574.3	,	1341,2631,2525	AA,AG,GG		45.4725,14.2662,40.8881	,	319/444,290/415	113283459	5313,7681	2201	4296	6497	SO:0001819	synonymous_variant	1813	exon7			GCTGTCGGGAGTG	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.957C>T	11.37:g.113283459G>A		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	158	7	NM_000795	0	0	0	0	0	Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	CCDS8361.1																																																																																			G|0.641;A|0.359		0.617	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		A	113283459	G	A	113283459	2	1	34	1	0	0	0	0	0	0	0	1	4771	1103	39	1		1	DRD2	11	113283459	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	2833006	113283459	21723057	79	8451											
NCAPD2	9918	bcgsc.ca	37	chr12	6632430	6632430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgctgttcccacagagCcaaggcccaggctttgattc	9	14	1	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr12:6632430C>A	ENST00000315579.5	+	17	2931	c.2132C>A	c.(2131-2133)gCc>gAc	p.A711D	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.A666D	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	711					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCACAGAGCCAAGGCCCAG	0.498																																					p.A711D		.											.	NCAPD2-660	0			c.C2132A						.						127	123	124					12																	6632430		2203	4300	6503	SO:0001583	missense	9918	exon17			ACAGAGCCAAGGC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2132C>A	12.37:g.6632430C>A	ENSP00000325017:p.Ala711Asp	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	66	4	NM_014865	0	0	0	0	0	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080797	0.76528	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.52754	0.65;0.65;0.65	5.74	5.74	0.90152	Armadillo-type fold (1);	0.328747	0.37437	N	0.002088	T	0.52484	0.1737	L	0.54323	1.7	0.58432	D	0.999992	P;P;D	0.54601	0.935;0.941;0.967	P;P;P	0.57009	0.681;0.811;0.701	T	0.41288	-0.9517	10	0.12766	T	0.61	-20.1971	9.9538	0.41655	0.0:0.7887:0.1396:0.0718	.	666;672;711	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	D	711;583;666;583	ENSP00000325017:A711D;ENSP00000371895:A583D;ENSP00000444417:A666D	ENSP00000325017:A711D	A	+	2	0	NCAPD2	6502691	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.191000	0.32138	2.873000	0.98535	0.561000	0.74099	GCC	.		0.498	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6632430	C	A	6632430	3	1	34	1	0	0	0	0	1	0	0	0	10244	739	26	3	2194	3	NCAPD2	12	6632430	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		6632430	127219465	80	8452											
RERG	85004	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	15262053	15262053	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgggctgcctaactactGattttggtgagcatcttgtt	11	8	1	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr12:15262053G>A	ENST00000256953.2	-	5	927	c.591C>T	c.(589-591)atC>atT	p.I197I	RERG_ENST00000546331.1_Silent_p.I178I|RERG_ENST00000538313.1_Silent_p.I197I|RERG_ENST00000536465.1_Silent_p.I197I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	197					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I197I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTAACTACTGATTTTGGTGA	0.493																																					p.I197I		.											.	RERG-659	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C591T						.						142	131	135					12																	15262053		2203	4300	6503	SO:0001819	synonymous_variant	85004	exon5			ACTACTGATTTTG	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.591C>T	12.37:g.15262053G>A		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	342	57	NM_032918	0	0	0	0	0	B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	CCDS8673.1																																																																																			.		0.493	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		A	15262053	G	A	15262053	2	1	34	1	0	0	0	0	0	0	0	1	13277	1280	45	3		3	RERG	12	15262053	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	8629623	15262053	118589842	81	8453											
NFE2	4778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	54686624	54686624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgactccctgcctcccccCgtgcagtgggcttagcccgc	10	21	0	0	rs139796996		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr12:54686624C>T	ENST00000540264.2	-	2	1165	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.R219Q|NFE2_ENST00000553070.1_Missense_Mutation_p.R219Q|NFE2_ENST00000312156.4_Missense_Mutation_p.R219Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	219					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TGCCTCCCCCCGTGCAGTGGG	0.582																																					p.R219Q		.											.	NFE2-226	0			c.G656A						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36	33	34		656,656	4.9	1	12	dbSNP_134	34	0,8600		0,0,4300	no	missense,missense	NFE2	NM_001136023.1,NM_006163.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	219/374,219/374	54686624	1,13005	2203	4300	6503	SO:0001583	missense	4778	exon4			TCCCCCCGTGCAG	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.656G>A	12.37:g.54686624C>T	ENSP00000439120:p.Arg219Gln	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	164	45	NM_001261461	0	0	0	0	0	Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502389	0.85176	2.27E-4	0.0	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	4.9	4.9	0.64082	.	0.395534	0.23734	N	0.045094	T	0.19604	0.0471	N	0.08118	0	0.28762	N	0.900867	D	0.57571	0.98	P	0.47603	0.551	T	0.03717	-1.1010	9	0.45353	T	0.12	-15.7595	9.3534	0.38151	0.0:0.9046:0.0:0.0954	.	219	Q16621	NFE2_HUMAN	Q	219	.	ENSP00000312436:R219Q	R	-	2	0	NFE2	52972891	0.063000	0.20901	0.995000	0.50966	0.998000	0.95712	2.064000	0.41432	2.711000	0.92665	0.655000	0.94253	CGG	C|1.000;T|0.000		0.582	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		T	54686624	C	T	54686624	3	4	34	1	0	0	0	0	1	0	0	0	10405	652	23	1	469	1	NFE2	12	54686624	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	39424571	54686624	79165271	82	8454											
C12orf29	91298	hgsc.bcm.edu;bcgsc.ca	37	chr12	88434018	88434020	+	In_Frame_Del	DEL	TGT	TGT	-													cagaaaaagtggatggaacaTgttgttatgttactacctat							TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	TGT	TGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr12:88434018_88434020delTGT	ENST00000356891.3	+	2	387_389	c.184_186delTGT	c.(184-186)tgtdel	p.C63del	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	63					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						GGATGGAACATGTTGTTATGTTA	0.291																																					p.62_62del		.											.	C12orf29-90	0			c.184_186del						.																																			SO:0001651	inframe_deletion	91298	exon2			GGAACATGTTGTT	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.184_186delTGT	12.37:g.88434021_88434023delTGT	ENSP00000349358:p.Cys63del	Somatic	259	2		WXS	Illumina GAIIx	Phase_I	485	172	NM_001009894	0	0	0	0	0	Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	In_Frame_Del	DEL	ENST00000356891.3	37	CCDS31866.1																																																																																			.		0.291	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		-	88434020	TGT	-	88434018	7	5	34	1	0	1	0	1	0	0	0	0	1685	1464	51	0	190	0	C12orf29	12	88434018	In_Frame_Del	DEL	TGT	TCGA-OR-A5KS-01A-11D-A30A-10	33747394	88434018	45417877	83	8455											
GPC5	2262	bcgsc.ca	37	chr13	92345579	92345579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgtatttatttggtgCggatgttaatcctgaagaat	13	4	0	2	rs553717	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr13:92345579C>T	ENST00000377067.3	+	3	836	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	155			A -> V (in dbSNP:rs553717).		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)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTATTTGGTGCGGATGTTAAT	0.443													C|||	986	0.196885	0.1936	0.1513	5008	,	,		18441	0.2897		0.1481	False		,,,				2504	0.1881				p.A155V		.											.	GPC5-519	0			c.C464T						.	C	VAL/ALA	822,3584	328.5+/-300.6	67,688,1448	153	156	155		464	4.2	0.8	13	dbSNP_83	155	970,7630	211.4+/-252.0	45,880,3375	yes	missense	GPC5	NM_004466.4	64	112,1568,4823	TT,TC,CC		11.2791,18.6564,13.7783	benign	155/573	92345579	1792,11214	2203	4300	6503	SO:0001583	missense	2262	exon3			TTGGTGCGGATGT	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.464C>T	13.37:g.92345579C>T	ENSP00000366267:p.Ala155Val	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	110	5	NM_004466	0	0	0	0	0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	379	0.17353479853479853	78	0.15853658536585366	44	0.12154696132596685	165	0.28846153846153844	92	0.12137203166226913	C	14.72	2.620512	0.46736	0.186564	0.112791	ENSG00000179399	ENST00000377067	T	0.54071	0.59	5.07	4.19	0.49359	.	0.330872	0.32518	N	0.005993	T	0.00012	0.0000	L	0.46157	1.445	0.27994	P	0.9355561	B	0.15473	0.013	B	0.15870	0.014	T	0.09862	-1.0655	9	0.59425	D	0.04	.	11.2088	0.48786	0.0:0.9046:0.0:0.0954	rs553717;rs52808980;rs57920264;rs553717	155	P78333	GPC5_HUMAN	V	155	ENSP00000366267:A155V	ENSP00000366267:A155V	A	+	2	0	GPC5	91143580	0.601000	0.26907	0.790000	0.31976	0.620000	0.37586	2.728000	0.47319	1.044000	0.40200	0.467000	0.42956	GCG	T|0.121;G|0.170		0.443	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		T	92345579	C	T	92345579	3	4	34	1	0	0	0	0	1	0	0	0	6627	768	27	1	474	1	GPC5	13	92345579	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		92345579	22824299	84	8456											
RBM23	55147	broad.mit.edu	37	chr14	23374128	23374128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcatgtcttcagtgaTattgaagtgcagggaaccca	12	9	2	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr14:23374128T>C	ENST00000359890.3	-	9	1015	c.820A>G	c.(820-822)Atc>Gtc	p.I274V	RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Missense_Mutation_p.I240V|RBM23_ENST00000555209.1_Missense_Mutation_p.I24V|RBM23_ENST00000399922.2_Missense_Mutation_p.I258V|RBM23_ENST00000542016.2_Missense_Mutation_p.I104V	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	274	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCTTCAGTGATATTGAAGTGC	0.522																																					p.I274V		.											.	RBM23-91	0			c.A820G						.						183	185	185					14																	23374128		1921	4125	6046	SO:0001583	missense	55147	exon9			CAGTGATATTGAA	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.820A>G	14.37:g.23374128T>C	ENSP00000352956:p.Ile274Val	Somatic	143	1		WXS	Illumina GAIIx	Phase_I	109	4	NM_001077351	0	0	0	0	0	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.653239|4.653239	0.88056|0.88056	.|.	.|.	ENSG00000100461|ENSG00000100461	ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016;ENST00000557403|ENST00000553884	T;T;T;T;T;T|.	0.14893|.	2.47;2.47;2.47;2.47;2.47;3.48|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.49201|0.49201	0.1543|0.1543	N|N	0.16602|0.16602	0.42|0.42	0.50632|0.50632	D|D	0.999886|0.999886	P;P;P;P|.	0.50710|.	0.542;0.505;0.505;0.938|.	P;P;P;P|.	0.61874|.	0.493;0.493;0.493;0.895|.	T|T	0.46414|0.46414	-0.9193|-0.9193	10|5	0.87932|.	D|.	0|.	-17.566|-17.566	14.7419|14.7419	0.69461|0.69461	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	274;240;258;274|.	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06|.	.;.;.;RBM23_HUMAN|.	V|C	24;274;251;258;240;104;104|48	ENSP00000452602:I24V;ENSP00000352956:I274V;ENSP00000382806:I258V;ENSP00000339220:I240V;ENSP00000438504:I104V;ENSP00000452171:I104V|.	ENSP00000305783:I274V|.	I|Y	-|-	1|2	0|0	RBM23|RBM23	22443968|22443968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.628000|5.628000	0.67791|0.67791	2.127000|2.127000	0.65507|0.65507	0.533000|0.533000	0.62120|0.62120	ATC|TAT	.		0.522	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			C	23374128	T	C	23374128	3	2	34	1	0	0	0	0	1	0	0	0	13168	1406	49	4	523	4	RBM23	14	23374128	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10		23374128	83975412	85	8457											
TMEM63C	57156	bcgsc.ca	37	chr14	77708804	77708804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccccacaccccaaagaCattatttggtaagcctcctc	6	15	0	1	rs61731611	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr14:77708804C>T	ENST00000298351.4	+	14	1323	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	393					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACCCCAAAGACATTATTTGGT	0.542													C|||	733	0.146366	0.0106	0.1902	5008	,	,		19087	0.1042		0.2555	False		,,,				2504	0.2301				p.D393D		.											.	.	0			c.C1179T						.	C		190,3786		4,182,1802	178	173	175		1179	4.1	1	14	dbSNP_129	175	2000,6328		234,1532,2398	no	coding-synonymous	TMEM63C	NM_020431.2		238,1714,4200	TT,TC,CC		24.0154,4.7787,17.7991		393/807	77708804	2190,10114	1988	4164	6152	SO:0001819	synonymous_variant	57156	exon14			CAAAGACATTATT		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1179C>T	14.37:g.77708804C>T		Somatic	171	2		WXS	Illumina GAIIx	Phase_I	139	8	NM_020431	0	0	0	0	0	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																			C|0.813;T|0.187		0.542	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			T	77708804	C	T	77708804	2	4	34	1	0	0	0	0	0	0	0	1	16239	477	17	3		3	TMEM63C	14	77708804	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	54334676	77708804	29640736	86	8458											
AHNAK2	113146	bcgsc.ca	37	chr14	105410183	105410183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctccaggagtttcaTgtccacctggcgagcttgga	13	12	1	0	rs10438246	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr14:105410183T>C	ENST00000333244.5	-	7	11724	c.11605A>G	c.(11605-11607)Atg>Gtg	p.M3869V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3869			M -> V (in dbSNP:rs10438246).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGTTTCATGTCCACCTGG	0.602													.|||	2784	0.555911	0.643	0.5144	5008	,	,		18090	0.4127		0.5348	False		,,,				2504	0.637				p.M3869V		.											.	AHNAK2-47	0			c.A11605G						.	C	VAL/MET	2678,1266		920,838,214	130	137	135		11605	-2	0	14	dbSNP_119	135	4528,3782		1252,2024,879	yes	missense	AHNAK2	NM_138420.2	21	2172,2862,1093	CC,CT,TT		45.5114,32.0994,41.1947	benign	3869/5796	105410183	7206,5048	1972	4155	6127	SO:0001583	missense	113146	exon7			GTTTCATGTCCAC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11605A>G	14.37:g.105410183T>C	ENSP00000353114:p.Met3869Val	Somatic	249	3		WXS	Illumina GAIIx	Phase_I	212	10	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1148	0.5256410256410257	324	0.6585365853658537	200	0.5524861878453039	222	0.3881118881118881	402	0.5303430079155673	t	0.010	-1.780679	0.00634	0.679006	0.544886	ENSG00000185567	ENST00000333244	T	0.00882	5.58	3.67	-2.03	0.07365	.	.	.	.	.	T	0.00012	0.0000	N	0.00985	-1.075	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.01834	-1.1264	8	0.12430	T	0.62	.	6.3549	0.21397	0.0:0.5117:0.1168:0.3714	rs10438246;rs59225031;rs10438246	3869	Q8IVF2	AHNK2_HUMAN	V	3869	ENSP00000353114:M3869V	ENSP00000353114:M3869V	M	-	1	0	AHNAK2	104481228	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-0.909000	0.03852	-2.717000	0.00132	ATG	T|0.456;C|0.544		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105410183	T	C	105410183	3	2	34	1	0	0	0	0	1	0	0	0	415	1464	51	4	5786	4	AHNAK2	14	105410183	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	27701379	105410183	1939357	87	8459											
AHNAK2	113146	bcgsc.ca	37	chr14	105416010	105416010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttggcgcccttaacatcTgtctgggggcccttgaggtc	13	12	2	1	rs2582511	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr14:105416010T>C	ENST00000333244.5	-	7	5897	c.5778A>G	c.(5776-5778)acA>acG	p.T1926T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1926						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTAACATCTGTCTGGGGGC	0.622													.|||	2922	0.583466	0.7057	0.4755	5008	,	,		16374	0.3998		0.6014	False		,,,				2504	0.6656				p.T1926T		.											.	AHNAK2-47	0			c.A5778G						.	C		2698,1050		1055,588,231	126	138	134		5778	-2.6	0	14	dbSNP_100	134	4926,3192		1693,1540,826	no	coding-synonymous	AHNAK2	NM_138420.2		2748,2128,1057	CC,CT,TT		39.32,28.0149,35.7492		1926/5796	105416010	7624,4242	1874	4059	5933	SO:0001819	synonymous_variant	113146	exon7			AACATCTGTCTGG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5778A>G	14.37:g.105416010T>C		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	153	7	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			T|0.428;C|0.572		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416010	T	C	105416010	2	2	34	1	0	0	0	0	0	0	0	1	415	1567	55	4		4	AHNAK2	14	105416010	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	5827	105416010	1933530	88	8460											
DMXL2	23312	broad.mit.edu	37	chr15	51756879	51756879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctttcttacttgaatgGggtattttcaggttctagca	10	6	3	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr15:51756879G>T	ENST00000251076.5	-	32	8085	c.7798C>A	c.(7798-7800)Cca>Aca	p.P2600T	DMXL2_ENST00000449909.3_Missense_Mutation_p.P1964T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2601T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2600						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)		TACTTGAATGGGGTATTTTCA	0.378																																					p.P2601T		.											.	DMXL2-99	0			c.C7801A						.						72	70	71					15																	51756879		2196	4293	6489	SO:0001583	missense	23312	exon32			TGAATGGGGTATT	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.7798C>A	15.37:g.51756879G>T	ENSP00000251076:p.Pro2600Thr	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	70	3	NM_001174116	0	0	0	0	0	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671578	0.88348	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.49720	0.86;0.85;0.77	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.997;1.0	T	0.77035	-0.2737	10	0.87932	D	0	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	2601;1964;2600;2601	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2600;2601;1964;145	ENSP00000251076:P2600T;ENSP00000441858:P2601T;ENSP00000400855:P1964T	ENSP00000251076:P2600T	P	-	1	0	DMXL2	49544171	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.263000	0.95617	2.890000	0.99128	0.585000	0.79938	CCA	.		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51756879	G	T	51756879	3	4	34	1	0	0	0	0	1	0	0	0	4609	1232	43	3	1360	3	DMXL2	15	51756879	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10		51756879	50774513	89	8461											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	34	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	11657204	63414083	39117309	90	8462											
MTFMT	123263	hgsc.bcm.edu	37	chr15	65321780	65321780	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcgcctcgcgggcgaActggtccgtgccgaagaaga	15	14	0	2	rs188718836	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr15:65321780A>T	ENST00000220058.4	-	1	185	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	58						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCGCGGGCGAACTGGTCCGTG	0.761													A|||	27	0.00539137	8e-04	0.0058	5008	,	,		9222	0		0.0119	False		,,,				2504	0.0102				p.F58I		.											.	MTFMT-24	0			c.T172A						.	A	ILE/PHE	5,2325		0,5,1160	2	3	2		172	3.6	0.5	15		2	49,5611		0,49,2781	yes	missense	MTFMT	NM_139242.3	21	0,54,3941	TT,TA,AA		0.8657,0.2146,0.6758	probably-damaging	58/390	65321780	54,7936	1165	2830	3995	SO:0001583	missense	123263	exon1			GGGCGAACTGGTC	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.172T>A	15.37:g.65321780A>T	ENSP00000220058:p.Phe58Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	18	NM_139242	0	0	0	0	0	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	A	20.5	3.997572	0.74818	0.002146	0.008657	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.77877	-1.13;-1.13	4.83	3.62	0.41486	Formyl transferase, N-terminal (2);	0.049940	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66378	2.025	0.42564	D	0.993154	D	0.57899	0.981	D	0.63033	0.91	T	0.82299	-0.0526	10	0.87932	D	0	-19.2998	8.2755	0.31871	0.8231:0.0:0.0:0.1769	.	58	Q96DP5	FMT_HUMAN	I	58	ENSP00000220058:F58I;ENSP00000443754:F58I	ENSP00000220058:F58I	F	-	1	0	MTFMT	63108833	0.988000	0.35896	0.512000	0.27736	0.150000	0.21749	3.146000	0.50631	1.802000	0.52723	0.528000	0.53228	TTC	A|0.995;T|0.005		0.761	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		T	65321780	A	T	65321780	3	4	34	1	0	0	0	0	1	0	0	0	9962	43	2	5	1033	5	MTFMT	15	65321780	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	1907697	65321780	37209612	91	8463											
HAPLN3	145864	bcgsc.ca	37	chr15	89430506	89430506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgggcagcaggagcaaCgggaccaggagcaacaggcc	17	12	0	0	rs3743395	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr15:89430506C>T	ENST00000359595.3	-	2	238	c.24G>A	c.(22-24)ccG>ccA	p.P8P	HAPLN3_ENST00000562889.1_Silent_p.P70P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	8					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCAGGAGCAACGGGACCAGGA	0.612													C|||	1020	0.203674	0.1755	0.2248	5008	,	,		18625	0.2222		0.2505	False		,,,				2504	0.1595				p.P8P		.											.	HAPLN3-90	0			c.G24A						.	C		815,3585	322.6+/-297.7	86,643,1471	107	95	99		24	-0.2	0	15	dbSNP_107	99	2267,6331	382.7+/-340.5	277,1713,2309	no	coding-synonymous	HAPLN3	NM_178232.2		363,2356,3780	TT,TC,CC		26.3666,18.5227,23.7113		8/361	89430506	3082,9916	2200	4299	6499	SO:0001819	synonymous_variant	145864	exon2			GAGCAACGGGACC	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.24G>A	15.37:g.89430506C>T		Somatic	206	2		WXS	Illumina GAIIx	Phase_I	119	5	NM_178232	0	0	0	0	0	A8K7P0	Silent	SNP	ENST00000359595.3	37	CCDS10346.1																																																																																			C|0.770;T|0.230		0.612	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89430506	C	T	89430506	2	4	34	1	0	0	0	0	0	0	0	1	6983	523	19	1		1	HAPLN3	15	89430506	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	24108726	89430506	13100886	92	8464											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	34	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		1823444	88531309	93	8465											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	34	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	236230	2059674	88295079	94	8466											
C16orf71	146562	bcgsc.ca	37	chr16	4797457	4797457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggagggctcaggcccCtgaagacacagctggatcac	16	11	2	2	rs17853375	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:4797457C>T	ENST00000299320.5	+	9	1872	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	C16orf71_ENST00000590191.1_Missense_Mutation_p.P482L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	465			P -> L (in dbSNP:rs17853375). {ECO:0000269|PubMed:15489334}.							breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTCAGGCCCCTGAAGACACA	0.647													C|||	2143	0.427915	0.0582	0.5086	5008	,	,		17368	0.6528		0.5994	False		,,,				2504	0.4622				p.P465L		.											.	C16orf71-68	0			c.C1394T						.	C	LEU/PRO	621,3769		53,515,1627	30	35	33		1394	0.6	0	16	dbSNP_123	33	5119,3475		1552,2015,730	yes	missense	C16orf71	NM_139170.2	98	1605,2530,2357	TT,TC,CC		40.4352,14.1458,44.2083	probably-damaging	465/521	4797457	5740,7244	2195	4297	6492	SO:0001583	missense	146562	exon9			AGGCCCCTGAAGA	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.1394C>T	16.37:g.4797457C>T	ENSP00000299320:p.Pro465Leu	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	188	6	NM_139170	0	0	0	0	0	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	1068	0.489010989010989	36	0.07317073170731707	187	0.5165745856353591	393	0.6870629370629371	452	0.5963060686015831	C	12.94	2.087887	0.36855	0.141458	0.595648	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.33654	1.4	4.89	0.549	0.17213	.	1.628840	0.03628	N	0.237451	T	0.00012	0.0000	L	0.50333	1.59	0.80722	P	0.0	B	0.14805	0.011	B	0.11329	0.006	T	0.48328	-0.9045	9	0.51188	T	0.08	0.0573	4.3323	0.11069	0.3111:0.5144:0.0:0.1745	rs17853375	465	Q8IYS4	CP071_HUMAN	L	465;220	ENSP00000299320:P465L	ENSP00000299320:P465L	P	+	2	0	C16orf71	4737458	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.107000	0.10873	-0.045000	0.13468	-0.521000	0.04368	CCT	C|0.555;G|0.000;T|0.445		0.647	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		T	4797457	C	T	4797457	3	4	34	1	0	0	0	0	1	0	0	0	1835	681	24	3	1424	3	C16orf71	16	4797457	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	2737783	4797457	85557296	95	8467											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	34	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	25110976	29908433	60446320	96	8468											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	34	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	27654371	57562804	32791949	97	8469											
TAF1C	9013	ucsc.edu	37	chr16	84213114	84213114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccatggccttgcggagCacacccagccgctgcccttc	12	18	0	0	rs2230130	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr16:84213114C>T	ENST00000567759.1	-	14	2225	c.2043G>A	c.(2041-2043)gtG>gtA	p.V681V	TAF1C_ENST00000570117.1_Silent_p.V349V|TAF1C_ENST00000378541.4_Silent_p.V681V|TAF1C_ENST00000566732.1_Silent_p.V655V|TAF1C_ENST00000341690.6_Silent_p.V587V|TAF1C_ENST00000541676.1_Silent_p.V588V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	681					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCTTGCGGAGCACACCCAGCC	0.687													C|||	1436	0.286741	0.1256	0.4135	5008	,	,		15010	0.371		0.3469	False		,,,				2504	0.2658				p.V681V		.											.	TAF1C-91	0			c.G2043A						.	C	,	749,3647		65,619,1514	24	25	24		2043,1761	-2	0	16	dbSNP_98	24	3086,5510		583,1920,1795	no	coding-synonymous,coding-synonymous	TAF1C	NM_005679.3,NM_139353.2	,	648,2539,3309	TT,TC,CC		35.9004,17.0382,29.5182	,	681/870,587/776	84213114	3835,9157	2198	4298	6496	SO:0001819	synonymous_variant	9013	exon14			GCGGAGCACACCC	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2043G>A	16.37:g.84213114C>T		Somatic	11	1		WXS	Illumina GAIIx	Phase_I	64	22	NM_005679	0	0	0	0	0	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	CCDS32496.1																																																																																			C|0.709;T|0.291		0.687	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		T	84213114	C	T	84213114	2	4	34	1	0	0	0	0	0	0	0	1	15568	697	25	3		3	TAF1C	16	84213114	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	26650310	84213114	6141639	98	8470											
OVCA2	124641	hgsc.bcm.edu	37	chr17	1945354	1945354	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcataatggccgcgcagCgacccctgcgggtcctgtgc	15	15	0	0	rs145234879	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr17:1945354C>A	ENST00000572195.1	+	1	28	c.13C>A	c.(13-15)Cga>Aga	p.R5R	RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_Intron|DPH1_ENST00000570477.1_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	5					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										GGCCGCGCAGCGACCCCTGCG	0.706											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	35	0.00698882	8e-04	0.0101	5008	,	,		12991	0		0.0179	False		,,,				2504	0.0092				p.R5R		.											.	.	0			c.C13A						.	C	,	15,3905		0,15,1945	4	5	4		,13	3.8	0	17	dbSNP_134	4	137,7773		1,135,3819	no	intron,coding-synonymous	DPH1,OVCA2	NM_001383.3,NM_080822.2	,	1,150,5764	AA,AC,CC		1.732,0.3827,1.2849	,	,5/228	1945354	152,11678	1960	3955	5915	SO:0001819	synonymous_variant	124641	exon1			GCGCAGCGACCCC	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.13C>A	17.37:g.1945354C>A		Somatic	0	0	599	WXS	Illumina GAIIx	Phase_I	18	17	NM_080822	0	0	0	0	0	Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	CCDS11015.1																																																																																			C|0.991;A|0.009		0.706	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		A	1945354	C	A	1945354	2	1	34	1	0	0	0	0	0	0	0	1	11361	760	27	2		2	OVCA2	17	1945354	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		1945354	79249856	99	8471											
ZZEF1	23140	bcgsc.ca	37	chr17	3916823	3916823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtctggcgacaggccacGcccaccagccattcccaaat	8	18	1	0	rs8075562	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr17:3916823G>A	ENST00000381638.2	-	52	8623	c.8499C>T	c.(8497-8499)ggC>ggT	p.G2833G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2833							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACAGGCCACGCCCACCAGCC	0.537													G|||	1011	0.201877	0.3033	0.2061	5008	,	,		14586	0.0734		0.2048	False		,,,				2504	0.1912				p.G2833G		.											.	ZZEF1-93	0			c.C8499T						.	G		1143,3263	406.6+/-333.9	156,831,1216	82	77	78		8499	-10.9	0.4	17	dbSNP_116	78	1659,6941	306.1+/-307.8	156,1347,2797	no	coding-synonymous	ZZEF1	NM_015113.3		312,2178,4013	AA,AG,GG		19.2907,25.9419,21.5439		2833/2962	3916823	2802,10204	2203	4300	6503	SO:0001819	synonymous_variant	23140	exon52			GGCCACGCCCACC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8499C>T	17.37:g.3916823G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	76	5	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																			G|0.778;A|0.222		0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3916823	G	A	3916823	2	1	34	1	0	0	0	0	0	0	0	1	18303	1074	38	1		1	ZZEF1	17	3916823	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	1971469	3916823	77278387	100	8472											
SEBOX	7448	broad.mit.edu	37	chr17	26694766	26694766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagacactctggatggGttcacaggtggcaggcacaa	14	8	2	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr17:26694766G>T	ENST00000226218.4	-	7	1912	c.1294C>A	c.(1294-1296)Ccc>Acc	p.P432T	CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_Missense_Mutation_p.N15K|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_Missense_Mutation_p.N15K|VTN_ENST00000431468.1_5'Flank|CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.P90T	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	432					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTCTGGATGGGTTCACAGGTG	0.567																																					p.P432T		.											.	VTN-227	0			c.C1294A						.						84	78	80					17																	26694766		2203	4300	6503	SO:0001583	missense	7448	exon7			GGATGGGTTCACA	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.1294C>A	17.37:g.26694766G>T	ENSP00000226218:p.Pro432Thr	Somatic	59	4		WXS	Illumina GAIIx	Phase_I	60	9	NM_000638	0	0	0	0	0	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.10|19.10	3.762215|3.762215	0.69763|0.69763	.|.	.|.	ENSG00000109072;ENSG00000109072;ENSG00000258852|ENSG00000255604	ENST00000536498;ENST00000438614;ENST00000555059|ENST00000226218	D;D|T	0.91351|0.02787	-2.83;-2.83|4.16	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Hemopexin/matrixin (2);	.|0.053333	.|0.85682	.|D	.|0.000000	T|T	0.04272|0.04272	0.0118|0.0118	L|L	0.41124|0.41124	1.26|1.26	0.58432|0.58432	D|D	0.999996|0.999996	B|P	0.29716|0.47034	0.255|0.889	B|B	0.22152|0.43658	0.038|0.426	T|T	0.47129|0.47129	-0.9141|-0.9141	9|10	0.05959|0.52906	T|T	0.93|0.07	-28.5166|-28.5166	12.8717|12.8717	0.57968|0.57968	0.0:0.0:0.8267:0.1733|0.0:0.0:0.8267:0.1733	.|.	15|432	C9JDG5|P04004	.|VTNC_HUMAN	K|T	15;15;41|432	ENSP00000444503:N15K;ENSP00000395142:N15K|ENSP00000226218:P432T	ENSP00000395142:N15K|ENSP00000226218:P432T	N|P	-|-	3|1	2|0	VTN;CTB-96E2.2|AC002094.1	23718893|23718893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	5.801000|5.801000	0.69115|0.69115	2.645000|2.645000	0.89757|0.89757	0.460000|0.460000	0.39030|0.39030	AAC|CCC	.		0.567	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		T	26694766	G	T	26694766	3	4	34	1	0	0	0	0	1	0	0	0	14022	1261	44	3	731	3	SEBOX	17	26694766	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	22777943	26694766	54500444	101	8473											
RNF135	84282	hgsc.bcm.edu	37	chr17	29298390	29298390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctccgaccctgcccActgcccctgcccgggctcca	12	21	0	0	rs368080023	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr17:29298390A>G	ENST00000328381.5	+	1	1172	c.299A>G	c.(298-300)cAc>cGc	p.H100R	RNF135_ENST00000535306.2_Missense_Mutation_p.H100R|RNF135_ENST00000324689.4_Missense_Mutation_p.H100R|RP11-848P1.2_ENST00000580979.1_RNA|RNF135_ENST00000443677.2_Missense_Mutation_p.H100R	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	100					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GACCCTGCCCACTGCCCCTGC	0.756													A|||	6	0.00119808	0	0.0029	5008	,	,		10218	0		0.004	False		,,,				2504	0				p.H100R		.											.	RNF135-227	1	Unknown(1)	central_nervous_system(1)	c.A299G						.	A	ARG/HIS,ARG/HIS,ARG/HIS	0,2936		0,0,1468	2	2	2		299,299,299	-1.2	0	17		2	12,5934		0,12,2961	no	missense,missense,missense	RNF135	NM_001184992.1,NM_032322.3,NM_197939.1	29,29,29	0,12,4429	GG,GA,AA		0.2018,0.0,0.1351	benign,benign,benign	100/287,100/433,100/211	29298390	12,8870	1468	2973	4441	SO:0001583	missense	84282	exon1			CTGCCCACTGCCC	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.299A>G	17.37:g.29298390A>G	ENSP00000328340:p.His100Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_197939	0	0	0	0	0	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	a	0.017	-1.494607	0.01009	0.0	0.002018	ENSG00000181481	ENST00000328381;ENST00000324689;ENST00000535306;ENST00000443677	T;T;T	0.55588	0.51;3.04;3.0	0.605	-1.21	0.09524	Zinc finger, RING/FYVE/PHD-type (1);	0.542584	0.13900	N	0.354951	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14012	0.003;0.009;0.005;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.10543	-1.0625	10	0.25106	T	0.35	-2.718	6.0937	0.20008	0.7348:0.2652:0.0:0.0	.	100;100;100;100	F5GX60;Q8IUD6-2;B2R7G9;Q8IUD6	.;.;.;RN135_HUMAN	R	100;100;100;34	ENSP00000328340:H100R;ENSP00000323693:H100R;ENSP00000440470:H100R	ENSP00000323693:H100R	H	+	2	0	RNF135	26322516	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.954000	0.03873	-1.399000	0.02063	-0.708000	0.03648	CAC	.		0.756	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		G	29298390	A	G	29298390	3	3	34	1	0	0	0	0	1	0	0	0	13485	159	6	4	301	4	RNF135	17	29298390	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	2603624	29298390	51896820	102	8474											
KPNA2	3838	bcgsc.ca	37	chr17	66039350	66039350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatgatgatccagaagtAttagcagatacctgctgggc	10	9	1	4	rs4638	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr17:66039350A>G	ENST00000537025.2	+	7	1421	c.801A>G	c.(799-801)gtA>gtG	p.V267V	KPNA2_ENST00000330459.3_Silent_p.V267V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	267					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCCAGAAGTATTAGCAGATA	0.473													a|||	2597	0.51857	0.4024	0.6585	5008	,	,		19618	0.2847		0.7276	False		,,,				2504	0.6022				p.V267V		.											.	KPNA2-560	0			c.A801G						.	A		1967,2439	555.1+/-379.2	455,1057,691	167	174	172		801	-6	1	17	dbSNP_52	172	6375,2225	709.1+/-405.7	2367,1641,292	no	coding-synonymous	KPNA2	NM_002266.2		2822,2698,983	GG,GA,AA		25.8721,44.6437,35.8604		267/530	66039350	8342,4664	2203	4300	6503	SO:0001819	synonymous_variant	3838	exon7			AGAAGTATTAGCA	U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.801A>G	17.37:g.66039350A>G		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_002266	0	0	0	0	0	B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	ENST00000537025.2	37	CCDS32713.1																																																																																			A|0.406;G|0.594		0.473	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		G	66039350	A	G	66039350	2	3	34	1	0	0	0	0	0	0	0	1	8457	436	16	4		4	KPNA2	17	66039350	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	36740960	66039350	15155860	103	8475											
EMILIN2	84034	bcgsc.ca	37	chr18	2885118	2885118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccggctcggcctcgaaaCagcttgaagaaagccacagg	12	13	0	2	rs592120	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr18:2885118C>T	ENST00000254528.3	+	3	573	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	138					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)		GGCCTCGAAACAGCTTGAAGA	0.507													C|||	854	0.170527	0.1014	0.2406	5008	,	,		19637	0.0119		0.3668	False		,,,				2504	0.1759				p.N138N		.											.	EMILIN2-93	0			c.C414T						.	C		659,3747	276.6+/-273.2	67,525,1611	60	61	61		414	2.7	0	18	dbSNP_83	61	3165,5435	478.8+/-370.0	578,2009,1713	no	coding-synonymous	EMILIN2	NM_032048.2		645,2534,3324	TT,TC,CC		36.8023,14.9569,29.4018		138/1054	2885118	3824,9182	2203	4300	6503	SO:0001819	synonymous_variant	84034	exon3			TCGAAACAGCTTG	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.414C>T	18.37:g.2885118C>T		Somatic	105	1		WXS	Illumina GAIIx	Phase_I	59	6	NM_032048	0	0	0	0	0	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																			C|0.763;T|0.237		0.507	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2885118	C	T	2885118	2	4	34	1	0	0	0	0	0	0	0	1	5110	477	17	3		3	EMILIN2	18	2885118	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		2885118	75192130	104	8476											
TWSG1	57045	hgsc.bcm.edu	37	chr18	9399488	9399488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagaatgtattgactatgGtagtaaaactgtcaaatgta	8	5	1	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr18:9399488G>T	ENST00000262120.5	+	5	826	c.635G>T	c.(634-636)gGt>gTt	p.G212V		NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	212					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						ATTGACTATGGTAGTAAAACT	0.358																																					p.G212V		.											.	TWSG1-92	0			c.G635T						.						99	94	96					18																	9399488		2203	4300	6503	SO:0001583	missense	57045	exon5			ACTATGGTAGTAA	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"twisted gastrulation homolog 1 (Drosophila)"			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.635G>T	18.37:g.9399488G>T	ENSP00000262120:p.Gly212Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_020648	0	0	0	0	0	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768316	0.90020	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86867	0.2033	9	0.87932	D	0	-31.1142	17.3385	0.87289	0.0:0.0:1.0:0.0	.	212	Q9GZX9	TWSG1_HUMAN	V	212	.	ENSP00000262120:G212V	G	+	2	0	TWSG1	9389488	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	9.771000	0.98977	2.341000	0.79615	0.455000	0.32223	GGT	.		0.358	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			T	9399488	G	T	9399488	3	4	34	1	0	0	0	0	1	0	0	0	16834	1261	44	3	649	3	TWSG1	18	9399488	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	6514370	9399488	68677760	105	8477											
ST8SIA5	29906	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	44260305	44260305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaccaggtactgcggatgGaagtagtagacagcttgcgg	15	7	0	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr18:44260305G>A	ENST00000315087.7	-	7	1491	c.831C>T	c.(829-831)ttC>ttT	p.F277F	ST8SIA5_ENST00000536490.1_Silent_p.F246F|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.F313F	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	277					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACTGCGGATGGAAGTAGTAGA	0.622																																					p.F277F		.											.	ST8SIA5-517	0			c.C831T						.						121	80	94					18																	44260305		2203	4300	6503	SO:0001819	synonymous_variant	29906	exon7			CGGATGGAAGTAG	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.831C>T	18.37:g.44260305G>A		Somatic	124	2		WXS	Illumina GAIIx	Phase_I	203	81	NM_013305	0	0	0	0	0	B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	CCDS11930.1																																																																																			.		0.622	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		A	44260305	G	A	44260305	2	1	34	1	0	0	0	0	0	0	0	1	15282	1165	41	3		3	ST8SIA5	18	44260305	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	34860817	44260305	33816943	106	8478											
CDH7	1005	bcgsc.ca	37	chr18	63511176	63511176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagataattgtggaagaTgtagatgagccccctgtgtt	13	5	0	5	rs2306675	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr18:63511176T>C	ENST00000397968.2	+	7	1536	c.1110T>C	c.(1108-1110)gaT>gaC	p.D370D	CDH7_ENST00000323011.3_Silent_p.D370D|CDH7_ENST00000536984.2_Silent_p.D370D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs2306675).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D370D(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGTGGAAGATGTAGATGAGC	0.502													T|||	932	0.186102	0.1528	0.2205	5008	,	,		12857	0.0377		0.3489	False		,,,				2504	0.1922				p.D370D		.											.	CDH7-94	1	Substitution - coding silent(1)	stomach(1)	c.T1110C						.	T	,	856,3550	334.9+/-303.7	88,680,1435	188	156	167		1110,1110	-7.5	0.8	18	dbSNP_100	167	2914,5686	455.7+/-363.9	488,1938,1874	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	576,2618,3309	CC,CT,TT		33.8837,19.4281,28.9866	,	370/786,370/786	63511176	3770,9236	2203	4300	6503	SO:0001819	synonymous_variant	1005	exon7			GGAAGATGTAGAT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1110T>C	18.37:g.63511176T>C		Somatic	189	2		WXS	Illumina GAIIx	Phase_I	210	6	NM_004361	0	0	0	0	0	Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																			T|0.756;C|0.244		0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63511176	T	C	63511176	2	2	34	1	0	0	0	0	0	0	0	1	3122	1461	51	4		4	CDH7	18	63511176	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	19250871	63511176	14566072	107	8479											
CCDC102B	79839	broad.mit.edu;ucsc.edu	37	chr18	66721363	66721363	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgaactcaggcacttgCaaaactggtaattttttcac	7	9	2	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr18:66721363C>T	ENST00000360242.5	+	8	1648	c.1531C>T	c.(1531-1533)Caa>Taa	p.Q511*	CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.Q511*	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	511										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)				CAGGCACTTGCAAAACTGGTA	0.338																																					p.Q511X		.											.	CCDC102B-93	0			c.C1531T						.						57	59	59					18																	66721363		2203	4300	6503	SO:0001587	stop_gained	79839	exon10			CACTTGCAAAACT	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.1531C>T	18.37:g.66721363C>T	ENSP00000353377:p.Gln511*	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Nonsense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216356	0.39201	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	.	.	.	4.94	2.1	0.27182	.	0.481828	0.15372	U	0.265804	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6949	3.5635	0.07890	0.1739:0.565:0.168:0.0931	.	.	.	.	X	511	.	ENSP00000316237:Q511X	Q	+	1	0	CCDC102B	64872343	0.836000	0.29430	0.064000	0.19789	0.114000	0.19823	0.599000	0.24089	0.138000	0.18790	0.454000	0.30748	CAA	.		0.338	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66721363	C	T	66721363	4	4	34	1	0	0	0	0	0	1	0	0	2744	711	25	3	1557	3	CCDC102B	18	66721363	Nonsense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	3210187	66721363	11355885	108	8480											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	34	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10		929753	58199230	109	8481											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003374	1003374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggccccgatggcggcGccagtggggggtgaagcacc	18	14	0	1	rs34585248	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:1003374G>A	ENST00000234389.3	+	2	691	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	224					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGATGGCGGCGCCAGTGGGGG	0.746													g|||	158	0.0315495	0.0015	0.0173	5008	,	,		11320	0.0754		0.0338	False		,,,				2504	0.0348				p.A224A		.											.	GRIN3B-90	0			c.G672A						.	G		37,3905		0,37,1934	4	6	5		672	-8.1	0	19	dbSNP_126	5	211,7611		3,205,3703	no	coding-synonymous	GRIN3B	NM_138690.1		3,242,5637	AA,AG,GG		2.6975,0.9386,2.1081		224/1044	1003374	248,11516	1971	3911	5882	SO:0001819	synonymous_variant	116444	exon2			GGCGGCGCCAGTG		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.672G>A	19.37:g.1003374G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	15	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																			G|0.966;A|0.034		0.746	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003374	G	A	1003374	2	1	34	1	0	0	0	0	0	0	0	1	6811	1074	38	1		1	GRIN3B	19	1003374	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	73621	1003374	58125609	110	8482											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1004687	1004687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggacggccagctggactTggaaccgggaggtgcctctg	18	11	1	0	rs12978900	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:1004687T>C	ENST00000234389.3	+	3	1206	c.1187T>C	c.(1186-1188)tTg>tCg	p.L396S	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	396					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCTGGACTTGGAACCGGGA	0.682													t|||	166	0.033147	0.0015	0.0173	5008	,	,		10955	0.0784		0.0338	False		,,,				2504	0.0399				p.L396S		.											.	GRIN3B-90	0			c.T1187C						.	T	SER/LEU	38,4326		0,38,2144	16	16	16		1187	-0.1	0	19	dbSNP_121	16	239,8321		2,235,4043	no	missense	GRIN3B	NM_138690.1	145	2,273,6187	CC,CT,TT		2.7921,0.8708,2.1433	benign	396/1044	1004687	277,12647	2182	4280	6462	SO:0001583	missense	116444	exon3			TGGACTTGGAACC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1187T>C	19.37:g.1004687T>C	ENSP00000234389:p.Leu396Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	40	18	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	70	0.03205128205128205	1	0.0020325203252032522	4	0.011049723756906077	39	0.06818181818181818	26	0.03430079155672823	T	2.347	-0.349767	0.05173	0.008708	0.027921	ENSG00000116032	ENST00000234389	T	0.12465	2.68	4.41	-0.073	0.13737	.	49.635500	0.01261	U	0.009180	T	0.00496	0.0016	N	0.02539	-0.55	0.09310	N	0.99999	B	0.18741	0.03	B	0.12837	0.008	T	0.32107	-0.9919	10	0.42905	T	0.14	.	8.5979	0.33727	0.0:0.271:0.0:0.729	rs12978900	396	O60391	NMD3B_HUMAN	S	396	ENSP00000234389:L396S	ENSP00000234389:L396S	L	+	2	0	GRIN3B	955687	0.231000	0.23751	0.001000	0.08648	0.017000	0.09413	0.570000	0.23653	-0.027000	0.13873	0.386000	0.25728	TTG	T|0.967;C|0.033		0.682	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1004687	T	C	1004687	3	2	34	1	0	0	0	0	1	0	0	0	6811	1821	63	4	1197	4	GRIN3B	19	1004687	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	1313	1004687	58124296	111	8483											
C19orf6	91304	hgsc.bcm.edu	37	chr19	1010673	1010673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgctgccacaggcccGggactcccgctggccccagg	15	19	0	0	rs11540362	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:1010673G>A	ENST00000356663.3	-	11	1660	c.1539C>T	c.(1537-1539)ccC>ccT	p.P513P	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	513						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCACAGGCCCGGGACTCCCGC	0.731													N|||	173	0.0345447	8e-04	0.013	5008	,	,		9671	0.0962		0.0239	False		,,,				2504	0.0429				p.P513P		.											.	.	0			c.C1539T						.						2	2	2					19																	1010673		1290	3063	4353	SO:0001819	synonymous_variant	91304	exon11			AGGCCCGGGACTC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1539C>T	19.37:g.1010673G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001033026	0	0	0	0	0	O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	CCDS32862.1																																																																																			T|0.037;C|0.963		0.731	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		A	1010673	G	A	1010673	2	1	34	1	0	0	0	0	0	0	0	1	1948	1103	39	1		1	C19orf6	19	1010673	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	5986	1010673	58118310	112	8484											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc	14	16	0	2	rs8140	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000453954.2_Silent_p.S350S|TCF3_ENST00000344749.5_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_003200	0	0	0	0	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	34	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	608666	1619339	57509644	113	8485											
CHAF1A	10036	bcgsc.ca	37	chr19	4428809	4428809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcgagttctccttctTgaaagacctcaaaggccggc	12	12	3	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:4428809T>C	ENST00000301280.5	+	8	1627	c.1526T>C	c.(1525-1527)tTg>tCg	p.L509S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	509					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)		TTCTCCTTCTTGAAAGACCTC	0.612								Chromatin Structure																													p.L509S		.											.	CHAF1A-92	0			c.T1526C						.						40	43	42					19																	4428809		2203	4300	6503	SO:0001583	missense	10036	exon8			CCTTCTTGAAAGA	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.1526T>C	19.37:g.4428809T>C	ENSP00000301280:p.Leu509Ser	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_005483	0	0	0	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181771	0.57800	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.21191	2.02	5.24	5.24	0.73138	.	.	.	.	.	T	0.44808	0.1311	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.43861	-0.9365	9	0.87932	D	0	-23.9892	14.2938	0.66298	0.0:0.0:0.0:1.0	.	509	Q13111	CAF1A_HUMAN	S	509	ENSP00000301280:L509S	ENSP00000301280:L509S	L	+	2	0	CHAF1A	4379809	1.000000	0.71417	0.878000	0.34440	0.104000	0.19210	6.906000	0.75719	1.969000	0.57287	0.454000	0.30748	TTG	.		0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		C	4428809	T	C	4428809	3	2	34	1	0	0	0	0	1	0	0	0	3318	1821	63	4	1556	4	CHAF1A	19	4428809	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	2809470	4428809	54700174	114	8486											
HDGFRP2	729359	hgsc.bcm.edu	37	chr19	4499666	4499680	+	IGR	DEL	TGGCCGGGGAGGAGG	TGGCCGGGGAGGAGG	-													ggagctggccggggaggagcTggccggggaggaggcccccc					rs372794408		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	TGGCCGGGGAGGAGG	TGGCCGGGGAGGAGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:4499666_4499680delTGGCCGGGGAGGAGG	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_In_Frame_Del_p.585_590LAGEEA>P|HDGFRP2_ENST00000586684.1_In_Frame_Del_p.585_590LAGEEA>P	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							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						ggggaggagctggccggggaggaggccccccagga	0.66																																					p.580_585del		.											.	.	0			c.1739_1753del						.																																			SO:0001628	intergenic_variant	0	exon15			AGGAGCTGGCCGG	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		19.37:g.4499666_4499680delTGGCCGGGGAGGAGG		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	25	15	NM_032631	0	0	0	0	0	A6NEI2	In_Frame_Del	DEL	ENST00000301286.3	37	CCDS45927.1																																																																																			.		0.66	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		-	4499680	TGGCCGGGGAGGAGG	-	4499666	6	5	34	0	1	1	0	1	0	0	0	0	7047	1580	55	0		0	HDGFRP2	19	4499666	IGR	DEL	TGGCCGGGGAGGAGG	TCGA-OR-A5KS-01A-11D-A30A-10	70857	4499666	54629317	115	8487											
ZNF414	84330	hgsc.bcm.edu	37	chr19	8576670	8576670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggttccagcagcgggaaCggcaggcccggcgctgatgc	17	12	0	1	rs7175	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4	6	5		705,705	-2	0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	15	NM_032370	0	0	0	0	0	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		T	8576670	C	T	8576670	2	4	34	1	0	0	0	0	0	0	0	1	17939	523	19	1		1	ZNF414	19	8576670	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	4077004	8576670	50552313	116	8488											
MUC16	94025	bcgsc.ca	37	chr19	9086318	9086318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggggcattactgagagtgaGagaaatccatggtgtcacct	14	7	1	3	rs4520945	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:9086318G>A	ENST00000397910.4	-	1	5700	c.5497C>T	c.(5497-5499)Ctc>Ttc	p.L1833F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1833	Ser-rich.|Thr-rich.		L -> F (in dbSNP:rs4520945).		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						CTGAGAGTGAGAGAAATCCAT	0.478													G|||	952	0.190096	0.0711	0.2709	5008	,	,		22597	0.3036		0.172	False		,,,				2504	0.1953				p.L1833F		.											.	MUC16-566	0			c.C5497T						.	G	PHE/LEU	280,3662		5,270,1696	146	141	142		5497	0.7	0	19	dbSNP_111	142	1489,6845		126,1237,2804	yes	missense	MUC16	NM_024690.2	22	131,1507,4500	AA,AG,GG		17.8666,7.103,14.4102	probably-damaging	1833/14508	9086318	1769,10507	1971	4167	6138	SO:0001583	missense	94025	exon1			GAGTGAGAGAAAT	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.5497C>T	19.37:g.9086318G>A	ENSP00000381008:p.Leu1833Phe	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	143	5	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	450	0.20604395604395603	37	0.07520325203252033	89	0.24585635359116023	193	0.3374125874125874	131	0.17282321899736147	g	2.939	-0.219341	0.06061	0.07103	0.178666	ENSG00000181143	ENST00000397910	T	0.03124	4.04	0.732	0.732	0.18283	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.55159	-0.8184	7	0.87932	D	0	.	.	.	.	rs4520945;rs52791576;rs60060127;rs4520945	1833	B5ME49	.	F	1833	ENSP00000381008:L1833F	ENSP00000381008:L1833F	L	-	1	0	MUC16	8947318	0.000000	0.05858	0.002000	0.10522	0.158000	0.22134	0.004000	0.13106	0.648000	0.30732	0.305000	0.20034	CTC	G|0.812;A|0.188		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9086318	G	A	9086318	3	1	34	1	0	0	0	0	1	0	0	0	10011	942	33	3	38362	3	MUC16	19	9086318	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	509648	9086318	50042665	117	8489											
AP1M1	8907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16338981	16338981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatggatcgagtcggtgatcGagaagcactcccacagccgc	12	12	0	2			TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:16338981G>A	ENST00000291439.3	+	8	1299	c.850G>A	c.(850-852)Gag>Aag	p.E284K	AP1M1_ENST00000541844.1_Missense_Mutation_p.E212K|AP1M1_ENST00000590756.1_Missense_Mutation_p.E212K|AP1M1_ENST00000444449.2_Missense_Mutation_p.E296K|AP1M1_ENST00000429941.2_Missense_Mutation_p.E284K	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	284	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GTCGGTGATCGAGAAGCACTC	0.592																																					p.E296K		.											.	AP1M1-156	0			c.G886A						.						96	72	80					19																	16338981		2203	4300	6503	SO:0001583	missense	8907	exon9			GTGATCGAGAAGC		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.850G>A	19.37:g.16338981G>A	ENSP00000291439:p.Glu284Lys	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	137	27	NM_001130524	0	0	0	0	0	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268988	0.59540	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	3.78	3.78	0.43462	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.25957	0.775	0.80722	D	1	B;D;D	0.69078	0.102;0.997;0.995	B;P;P	0.62813	0.037;0.907;0.9	T	0.02691	-1.1123	10	0.33141	T	0.24	-25.951	14.8184	0.70052	0.0:0.0:1.0:0.0	.	284;296;284	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	K	296;284;212;284	ENSP00000388996:E296K;ENSP00000291439:E284K;ENSP00000445682:E212K;ENSP00000411498:E284K	ENSP00000291439:E284K	E	+	1	0	AP1M1	16199981	1.000000	0.71417	0.956000	0.39512	0.973000	0.67179	9.356000	0.97091	1.955000	0.56771	0.561000	0.74099	GAG	.		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16338981	G	A	16338981	3	1	34	1	0	0	0	0	1	0	0	0	734	1059	37	1	920	1	AP1M1	19	16338981	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	7252663	16338981	42790002	118	8490											
LSM14A	26065	broad.mit.edu	37	chr19	34710315	34710315	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggtgctccttcagcTccaaggagagggcgtggggg	17	11	1	1	rs201741862		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:34710315T>G	ENST00000433627.5	+	7	876	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_ENST00000540746.2_Silent_p.A226A|LSM14A_ENST00000544216.3_Silent_p.A267A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	267					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A267A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438																																					p.A267A		.											.	LSM14A-91	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)	c.T801G						.						64	74	71					19																	34710315		2203	4300	6503	SO:0001819	synonymous_variant	26065	exon7			TTCAGCTCCAAGG	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.801T>G	19.37:g.34710315T>G		Somatic	68	1		WXS	Illumina GAIIx	Phase_I	84	5	NM_001114093	0	0	0	0	0	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																			T|0.999;G|0.001		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34710315	T	G	34710315	2	3	34	1	0	0	0	0	0	0	0	1	9089	1538	54	5		5	LSM14A	19	34710315	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	18371334	34710315	24418668	119	8491											
CYP2A13	1553	hgsc.bcm.edu	37	chr19	41596013	41596013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctccatcgccaccctAaggggttttggcgtgggcaa	12	13	1	0	rs199984436		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:41596013A>G	ENST00000330436.3	+	3	405	c.405A>G	c.(403-405)ctA>ctG	p.L135L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	135					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCGCCACCCTAAGGGGTTTTG	0.692																																					p.L135L		.											.	CYP2A13-93	0			c.A405G						.						23	24	24					19																	41596013		2201	4294	6495	SO:0001819	synonymous_variant	1553	exon3			CACCCTAAGGGGT	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.405A>G	19.37:g.41596013A>G		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	215	11	NM_000766	0	0	0	0	0	Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	CCDS12571.1																																																																																			A|0.999;G|0.001		0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		G	41596013	A	G	41596013	2	3	34	1	0	0	0	0	0	0	0	1	4170	349	13	4		4	CYP2A13	19	41596013	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10	6885698	41596013	17532970	120	8492											
CEACAM1	634	bcgsc.ca	37	chr19	43031407	43031407	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggttgccatccactctttcCcctttgtaccagctgtagcc	7	16	1	0	rs79326931	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:43031407C>G	ENST00000161559.6	-	2	344	c.210G>C	c.(208-210)ggG>ggC	p.G70G	CEACAM1_ENST00000352591.5_Silent_p.G70G|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Silent_p.G70G|CEACAM1_ENST00000351134.3_Silent_p.G70G|CEACAM1_ENST00000403461.1_Silent_p.G70G|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.G30G|CEACAM1_ENST00000358394.3_Silent_p.G70G|CEACAM1_ENST00000403444.3_Silent_p.G70G|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	70	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)	CCACTCTTTCCCCTTTGTACC	0.498																																					p.G70G		.											.	CEACAM1-515	0			c.G210C						.						235	189	205					19																	43031407		2203	4300	6503	SO:0001819	synonymous_variant	634	exon2			TCTTTCCCCTTTG	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.210G>C	19.37:g.43031407C>G		Somatic	357	8		WXS	Illumina GAIIx	Phase_I	563	48	NM_001184816	0	0	0	0	0	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	CCDS12609.1																																																																																			C|0.939;G|0.061		0.498	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		G	43031407	C	G	43031407	2	3	34	1	0	0	0	0	0	0	0	1	3194	610	22	3		3	CEACAM1	19	43031407	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	1435394	43031407	16097576	121	8493											
CEACAM1	634	bcgsc.ca	37	chr19	43031434	43031434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccagctgtagccaaaaagTtgctggggcagattgtggac	13	8	0	1	rs140316654		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:43031434T>A	ENST00000161559.6	-	2	317	c.183A>T	c.(181-183)caA>caT	p.Q61H	CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q61H|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q61H|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q61H|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q61H|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q21H|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q61H|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q61H|LIPE-AS1_ENST00000594624.2_RNA	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		.											.	CEACAM1-515	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	Somatic	316	6		WXS	Illumina GAIIx	Phase_I	511	36	NM_001184816	0	0	0	0	0	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	T|0.979;A|0.021		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	34	1	0	0	0	0	1	0	0	0	3194	1722	60	5	1526	5	CEACAM1	19	43031434	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	27	43031434	16097549	122	8494											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	8	NM_000041	0	0	0	0	0	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	34	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10	2380507	45411941	13717042	123	8495											
SFRS16	11129	hgsc.bcm.edu	37	chr19	45567668	45567668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagctcccgctccagctctCgctccagctcccgctctcgc	7	23	2	0	rs71352251	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:45567668C>A	ENST00000221455.3	+	13	1287	c.1189C>A	c.(1189-1191)Cgc>Agc	p.R397S	CLASRP_ENST00000544944.2_Missense_Mutation_p.R397S|CLASRP_ENST00000391953.4_Missense_Mutation_p.R335S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	397	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ctccagctctcgctccagctc	0.751													C|||	9	0.00179712	0	0.0014	5008	,	,		8999	0		0.008	False		,,,				2504	0				p.R397S		.											.	CLASRP-154	0			c.C1189A						.	C	SER/ARG	15,3921		0,15,1953	7	8	8		1189	2.2	0.9	19	dbSNP_130	8	110,7628		0,110,3759	yes	missense	CLASRP	NM_007056.2	110	0,125,5712	AA,AC,CC		1.4216,0.3811,1.0708	benign	397/675	45567668	125,11549	1968	3869	5837	SO:0001583	missense	11129	exon13			AGCTCTCGCTCCA	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1189C>A	19.37:g.45567668C>A	ENSP00000221455:p.Arg397Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	13	NM_007056	0	0	0	0	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	9.225	1.034325	0.19590	0.003811	0.014216	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.10960	2.82;2.83;2.82;2.82	4.39	2.19	0.27852	.	0.442461	0.16641	N	0.205652	T	0.03695	0.0105	N	0.19112	0.55	0.47698	D	0.999495	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.29305	-1.0016	10	0.02654	T	1	-2.0521	9.152	0.36969	0.4644:0.5356:0.0:0.0	.	335;397;397	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	397;397;335;397	ENSP00000221455:R397S;ENSP00000375814:R397S;ENSP00000375815:R335S;ENSP00000438702:R397S	ENSP00000221455:R397S	R	+	1	0	CLASRP	50259508	0.075000	0.21258	0.922000	0.36590	0.800000	0.45204	0.653000	0.24902	0.414000	0.25790	0.563000	0.77884	CGC	C|0.996;A|0.004		0.751	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		A	45567668	C	A	45567668	3	1	34	1	0	0	0	0	1	0	0	0	14217	884	31	2	1235	2	SFRS16	19	45567668	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	155727	45567668	13561315	124	8496											
ZNF610	162963	bcgsc.ca	37	chr19	52856955	52856955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcttgacattcatggaCgtggccatcgaattctctca	10	11	3	1	rs1961205	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:52856955C>T	ENST00000403906.3	+	4	540	c.84C>T	c.(82-84)gaC>gaT	p.D28D	ZNF610_ENST00000321287.8_Silent_p.D28D|ZNF610_ENST00000327920.8_Silent_p.D28D|ZNF610_ENST00000601151.1_Silent_p.D28D	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	28	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)	p.D28D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CATTCATGGACGTGGCCATCG	0.418													c|||	2073	0.413938	0.3903	0.3357	5008	,	,		17553	0.4504		0.3926	False		,,,				2504	0.4857				p.D28D		.											.	ZNF610-93	1	Substitution - coding silent(1)	stomach(1)	c.C84T						.	T	,,,	1815,2591	533.0+/-373.6	373,1069,761	96	96	96		84,84,84,84	-2.9	0.6	19	dbSNP_92	96	3259,5341	489.0+/-372.5	619,2021,1660	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	,,,	992,3090,2421	TT,TC,CC		37.8953,41.1938,39.0128	,,,	28/463,28/463,28/420,28/463	52856955	5074,7932	2203	4300	6503	SO:0001819	synonymous_variant	162963	exon4			CATGGACGTGGCC	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.84C>T	19.37:g.52856955C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	65	5	NM_001161427	0	0	0	0	0	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																			C|0.610;T|0.390		0.418	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		T	52856955	C	T	52856955	2	4	34	1	0	0	0	0	0	0	0	1	18084	535	19	1		1	ZNF610	19	52856955	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	7289287	52856955	6272028	125	8497											
NAT14	57106	hgsc.bcm.edu	37	chr19	55998262	55998262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggctgtggctaccaggCcgaggggggctggggctgcc	22	10	0	0	rs77664073	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:55998262C>T	ENST00000205194.4	+	3	863	c.560C>T	c.(559-561)gCc>gTc	p.A187V	SSC5D_ENST00000587166.1_5'Flank|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron|NAT14_ENST00000587400.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	187	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.			A -> V (in Ref. 1; BAB03716). {ECO:0000305}.	DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		GGCTACCAGGCCGAGGGGGGC	0.711													c|||	554	0.110623	0.0386	0.1441	5008	,	,		9391	0.0169		0.2237	False		,,,				2504	0.1646				p.A187V		.											.	NAT14-91	0			c.C560T						.	C	VAL/ALA	215,3605		12,191,1707	4	5	5		560	4.4	0.9	19	dbSNP_131	5	1480,6252		141,1198,2527	yes	missense	NAT14	NM_020378.3	64	153,1389,4234	TT,TC,CC		19.1412,5.6283,14.6728	benign	187/207	55998262	1695,9857	1910	3866	5776	SO:0001583	missense	57106	exon3			ACCAGGCCGAGGG	AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"K562 cells-derived leucine zipper-like protein 1"		"N-acetyltransferase 14"			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.560C>T	19.37:g.55998262C>T	ENSP00000205194:p.Ala187Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_020378	0	0	0	0	0	Q8TDY7|Q9NS72	Missense_Mutation	SNP	ENST00000205194.4	37	CCDS12926.1	265	0.12133699633699634	16	0.032520325203252036	68	0.1878453038674033	9	0.015734265734265736	172	0.22691292875989447	.	12.63	1.996150	0.35226	0.056283	0.191412	ENSG00000090971	ENST00000205194	.	.	.	4.45	4.45	0.53987	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.650048	0.13405	N	0.390290	T	0.00012	0.0000	N	0.05487	-0.04	0.36105	P	0.15562399999999998	B	0.09022	0.002	B	0.04013	0.001	T	0.11842	-1.0571	8	0.02654	T	1	-32.8565	8.7563	0.34648	0.0:0.8938:0.0:0.1062	.	187	Q8WUY8	NAT14_HUMAN	V	187	.	ENSP00000205194:A187V	A	+	2	0	NAT14	60690074	0.000000	0.05858	0.929000	0.37066	0.863000	0.49368	0.495000	0.22483	2.207000	0.71202	0.462000	0.41574	GCC	C|0.873;T|0.127		0.711	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453339.1	NM_020378		T	55998262	C	T	55998262	3	4	34	1	0	0	0	0	1	0	0	0	10213	739	26	3	566	3	NAT14	19	55998262	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	3141307	55998262	3130721	126	8498											
ZSCAN1	284312	hgsc.bcm.edu	37	chr19	58549354	58549354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtaccacgtggcgagCgggccgcacctcgcgctggg	15	15	0	0	rs113374422	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr19:58549354C>T	ENST00000282326.1	+	3	397	c.150C>T	c.(148-150)agC>agT	p.S50S	ZSCAN1_ENST00000391700.1_Silent_p.S50S|ZSCAN1_ENST00000601162.1_Silent_p.S50S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	50	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)		ACGTGGCGAGCGGGCCGCACC	0.706													C|||	83	0.0165735	0.0038	0.0187	5008	,	,		10978	0		0.0586	False		,,,				2504	0.0061				p.S50S		.											.	ZSCAN1-92	0			c.C150T						.	C		34,4340		0,34,2153	14	16	15		150	-3.9	0	19	dbSNP_132	15	319,8239		2,315,3962	no	coding-synonymous	ZSCAN1	NM_182572.3		2,349,6115	TT,TC,CC		3.7275,0.7773,2.7297		50/409	58549354	353,12579	2187	4279	6466	SO:0001819	synonymous_variant	284312	exon3			GGCGAGCGGGCCG	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.150C>T	19.37:g.58549354C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	41	29	NM_182572	0	0	0	0	0	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	CCDS12969.1																																																																																			C|0.975;T|0.025		0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58549354	C	T	58549354	2	4	34	1	0	0	0	0	0	0	0	1	18274	767	27	1		1	ZSCAN1	19	58549354	Silent	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10	2551092	58549354	579629	127	8499											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_033089	0	0	0	0	0	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	34	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5KS-01A-11D-A30A-10		278515	62747005	128	8500											
PANK2	80025	hgsc.bcm.edu	37	chr20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgctgctgcggatgggagGgggccggctcggcgcgccca	19	13	0	0	rs3737084	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.G3A	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2	3	3		,377	4.7	1	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_153638	0	0	0	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3870124	G	C	3870124	3	2	34	1	0	0	0	0	1	0	0	0	11456	1232	43	3	379	3	PANK2	20	3870124	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	3591609	3870124	59155396	129	8501											
IFT52	51098	bcgsc.ca	37	chr20	42264653	42264653	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaacccttcagcctgcGgtgagtaggtgtgcttggga	14	11	1	1	rs41296223	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr20:42264653G>A	ENST00000373030.3	+	11	1141	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	IFT52_ENST00000373039.4_Splice_Site_p.A337A	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	337					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)			TTCAGCCTGCGGTGAGTAGGT	0.547													G|||	57	0.0113818	0.0015	0.0159	5008	,	,		20237	0		0.0417	False		,,,				2504	0.002				p.A337A		.											.	IFT52-92	0			c.G1011A						.	G		29,4377	35.2+/-66.4	0,29,2174	77	72	74		1011	-0.1	1	20	dbSNP_127	74	333,8267	115.5+/-175.4	7,319,3974	yes	coding-synonymous-near-splice	IFT52	NM_016004.2		7,348,6148	AA,AG,GG		3.8721,0.6582,2.7833		337/438	42264653	362,12644	2203	4300	6503	SO:0001630	splice_region_variant	51098	exon11			GCCTGCGGTGAGT	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.1011+1G>A	20.37:g.42264653G>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_016004	0	0	0	0	0	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	CCDS33470.1																																																																																			G|0.975;A|0.025		0.547	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Silent	A	42264653	G	A	42264653	5	1	34	1	0	0	0	0	0	0	1	0	7588	1130	39	1	1049	1	IFT52	20	42264653	Splice_Site	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	38394529	42264653	20760867	130	8502											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G													gggtctcgggtgagccgcagCaatcgggggacggcagcctc					rs13049028	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2	2	2		892	-0.8	0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042579	C	G	36042579	3	3	34	1	0	0	0	0	1	0	0	0	3537	711	25	3	894	3	CLIC6	21	36042579	Missense_Mutation	SNP	C	TCGA-OR-A5KS-01A-11D-A30A-10		36042579	12087316	131	8503	73	2									
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A													tcgggtgagccgcagcaatcGggggacggcagcctctcgcc					rs13049239	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	34	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	5	36042584	12087311	132	8504	73	2									
COL6A2	1292	hgsc.bcm.edu	37	chr21	47532288	47532288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaccggcagcccctgcGggggcatcaagctgcaggcc	14	16	2	0	rs200710788	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr21:47532288G>A	ENST00000300527.4	+	3	615	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	COL6A2_ENST00000409416.1_Missense_Mutation_p.G171R|COL6A2_ENST00000357838.4_Missense_Mutation_p.G171R|COL6A2_ENST00000310645.5_Missense_Mutation_p.G171R|COL6A2_ENST00000397763.1_Missense_Mutation_p.G171R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	171	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCCCCTGCGGGGGCATCAA	0.701													G|||	3	0.000599042	0	0.0014	5008	,	,		12603	0		0.002	False		,,,				2504	0				p.G171R		.											.	COL6A2-515	0			c.G511A						.	G	ARG/GLY,ARG/GLY,ARG/GLY	0,4298		0,0,2149	10	13	12		511,511,511	4.3	0.9	21		12	7,8393		0,7,4193	yes	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	125,125,125	0,7,6342	AA,AG,GG		0.0833,0.0,0.0551	probably-damaging,probably-damaging,probably-damaging	171/1020,171/919,171/829	47532288	7,12691	2149	4200	6349	SO:0001583	missense	1292	exon3			CCCTGCGGGGGCA	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.511G>A	21.37:g.47532288G>A	ENSP00000300527:p.Gly171Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	15	NM_058175	0	0	0	0	0	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166238	0.57476	0.0	8.33E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.34	4.34	0.51931	von Willebrand factor, type A (3);	0.056517	0.64402	D	0.000001	D	0.86814	0.6023	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.989	D	0.88259	0.2922	10	0.59425	D	0.04	-21.3107	17.2361	0.86999	0.0:0.0:1.0:0.0	.	171;171;171	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	R	171	ENSP00000300527:G171R;ENSP00000350497:G171R;ENSP00000312529:G171R;ENSP00000390418:G171R;ENSP00000387115:G171R;ENSP00000380870:G171R	ENSP00000300527:G171R	G	+	1	0	COL6A2	46356716	1.000000	0.71417	0.864000	0.33941	0.959000	0.62525	3.490000	0.53245	2.142000	0.66516	0.467000	0.42956	GGG	.		0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47532288	G	A	47532288	3	1	34	1	0	0	0	0	1	0	0	0	3707	1116	39	1	517	1	COL6A2	21	47532288	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	11489704	47532288	597607	133	8505											
SNAP29	9342	bcgsc.ca	37	chr22	21213416	21213416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatgtcagcttaccctaaAagctacaatccgttcgacga	6	13	1	0	rs1061064	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chr22:21213416A>G	ENST00000215730.7	+	1	146	c.18A>G	c.(16-18)aaA>aaG	p.K6K	PI4KA_ENST00000572273.1_5'Flank|PI4KA_ENST00000255882.6_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	6					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			CTTACCCTAAAAGCTACAATC	0.731													A|||	2021	0.403554	0.1604	0.4323	5008	,	,		12279	0.372		0.5249	False		,,,				2504	0.6196				p.K6K		.											.	SNAP29-278	0			c.A18G						.	A		909,3459		120,669,1395	10	12	12		18	-2.2	0.2	22	dbSNP_86	12	4457,4057		1243,1971,1043	no	coding-synonymous	SNAP29	NM_004782.3		1363,2640,2438	GG,GA,AA		47.6509,20.8104,41.655		6/259	21213416	5366,7516	2184	4257	6441	SO:0001819	synonymous_variant	9342	exon1			CCCTAAAAGCTAC	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.18A>G	22.37:g.21213416A>G		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	188	6	NM_004782	0	0	0	0	0		Silent	SNP	ENST00000215730.7	37	CCDS13784.1																																																																																			A|0.600;G|0.400		0.731	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		G	21213416	A	G	21213416	2	3	34	1	0	0	0	0	0	0	0	1	14876	11	1	4		4	SNAP29	22	21213416	Silent	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10		21213416	30091150	134	8506											
SLC38A5	92745	bcgsc.ca	37	chrX	48317386	48317386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagcctagactgacggccAtgaagaggactcccaggact	11	11	0	4	rs17281188	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chrX:48317386A>G	ENST00000376876.3	-	16	2195	c.1352T>C	c.(1351-1353)aTg>aCg	p.M451T	SLC38A5_ENST00000317669.5_Missense_Mutation_p.M451T|SLC38A5_ENST00000376875.1_Missense_Mutation_p.M400T|SLC38A5_ENST00000480105.1_5'Flank			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	451			M -> T (in dbSNP:rs17281188). {ECO:0000269|PubMed:11243884}.		amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACTGACGGCCATGAAGAGGAC	0.592													A|||	321	0.0850331	0.0272	0.1441	3775	,	,		12194	0.0685		0.0517	False		,,,				2504	0.0654				p.M451T		.											.	SLC38A5-133	0			c.T1352C						.	A	THR/MET	124,3707		4,99,17,1527,554	49	41	44		1352	3.9	1	X	dbSNP_123	44	500,6218		10,338,142,2078,1724	yes	missense	SLC38A5	NM_033518.2	81	14,437,159,3605,2278	GG,GA,G,AA,A		7.4427,3.2368,5.9153	possibly-damaging	451/473	48317386	624,9925	2201	4292	6493	SO:0001583	missense	92745	exon17			ACGGCCATGAAGA	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1352T>C	X.37:g.48317386A>G	ENSP00000366073:p.Met451Thr	Somatic	244	2		WXS	Illumina GAIIx	Phase_I	239	10	NM_033518	0	0	0	0	0	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	CCDS14293.1	143	0.0861965039180229	14	0.028688524590163935	32	0.09937888198757763	20	0.037037037037037035	28	0.03804347826086957	a	13.51	2.257794	0.39896	0.032368	0.074427	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02525	4.26;4.26;4.26	5.08	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.00384	0.0012	M	0.90145	3.09	0.09310	P	0.99999108501	D	0.71674	0.998	D	0.73380	0.98	T	0.04140	-1.0974	9	0.35671	T	0.21	.	8.5502	0.33447	0.825:0.0:0.0:0.175	rs17281188;rs61481118;rs17281188	451	Q8WUX1	S38A5_HUMAN	T	451;400;451	ENSP00000366073:M451T;ENSP00000366071:M400T;ENSP00000313740:M451T	ENSP00000313740:M451T	M	-	2	0	SLC38A5	48202330	1.000000	0.71417	0.979000	0.43373	0.376000	0.30014	8.322000	0.90000	0.570000	0.29347	0.425000	0.28330	ATG	A|0.906;0|0.027		0.592	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		G	48317386	A	G	48317386	3	3	34	1	0	0	0	0	1	0	0	0	14652	217	8	4	70	4	SLC38A5	23	48317386	Missense_Mutation	SNP	A	TCGA-OR-A5KS-01A-11D-A30A-10		48317386	106953174	135	8507											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102					GBM(38;198 791 1498 11752 13599)	.											.	NUDT11-130	5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)							.			1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190	wholegene			ACTTCATCCTCGA	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	221	66	NM_018159	0	0	0	0	0	Q9NVN0	Frame_Shift_Del	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																			.		0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	34	1	0	1	0	1	0	0	0	0	10766	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-OR-A5KS-01A-11D-A30A-10	2921910	51239296	104031264	136	8508											
SLC7A3	84889	bcgsc.ca	37	chrX	70146475	70146475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaaccactgcagtccacaGcaggtctccagaaagcaatg	8	14	1	1	rs6525447	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chrX:70146475G>C	ENST00000374299.3	-	10	1666	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.L508V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	508			L -> V (in dbSNP:rs6525447). {ECO:0000269|PubMed:15489334}.		amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTCCACAGCAGGTCTCCA	0.517													C|||	1513	0.400795	0.4463	0.304	3775	,	,		14389	0.3512		0.0616	False		,,,				2504	0.3027				p.L508V		.											.	SLC7A3-132	0			c.C1522G						.	C	VAL/LEU,VAL/LEU	2165,1669		533,772,327,327,243	45	37	40		1522,1522	4.2	1	X	dbSNP_116	40	638,6088		31,406,170,1991,1700	yes	missense,missense	SLC7A3	NM_001048164.2,NM_032803.5	32,32	564,1178,497,2318,1943	CC,CG,C,GG,G		9.4856,43.5316,26.5436	benign,benign	508/620,508/620	70146475	2803,7757	2202	4298	6500	SO:0001583	missense	84889	exon10			TCCACAGCAGGTC	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1522C>G	X.37:g.70146475G>C	ENSP00000363417:p.Leu508Val	Somatic	147	1		WXS	Illumina GAIIx	Phase_I	221	7	NM_032803	0	0	0	0	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	575	0.3465943339361061	149	0.4281609195402299	77	0.275	115	0.279126213592233	34	0.04607046070460705	C	0.012	-1.681666	0.00745	0.564684	0.094856	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87571	-2.27;-2.27	5.01	4.15	0.48705	.	0.695584	0.14611	N	0.309011	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	9	0.12430	T	0.62	.	7.8134	0.29245	0.0:0.612:0.3015:0.0866	rs6525447;rs17265153;rs17856987;rs52796906;rs6525447	508	Q8WY07	CTR3_HUMAN	V	508	ENSP00000363417:L508V;ENSP00000298085:L508V	ENSP00000298085:L508V	L	-	1	2	SLC7A3	70063200	0.000000	0.05858	0.999000	0.59377	0.016000	0.09150	-0.142000	0.10311	0.632000	0.30432	-0.252000	0.11476	CTG	0|0.018;C|0.306		0.517	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		C	70146475	G	C	70146475	3	2	34	1	0	0	0	0	1	0	0	0	14743	962	34	3	349	3	SLC7A3	23	70146475	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	18907179	70146475	85124085	137	8509											
CTAG2	30848	bcgsc.ca	37	chrX	153881525	153881525	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaacagaacaggatacaactGaagcaggcggctgtccggcc	13	11	0	2	rs17328091	byFrequency	TCGA-OR-A5KS-01A-11D-A30A-10	TCGA-OR-A5KS-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	66cd2c9e-018a-45ed-bc81-96e043cf32cb	325dd1e8-4b64-4e67-a7e0-4496272625cd	g.chrX:153881525G>C	ENST00000247306.4	-	1	328	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	CTAG2_ENST00000369585.3_Missense_Mutation_p.Q89E	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	89			Q -> E (in dbSNP:rs17328091). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17899192, ECO:0000269|PubMed:9626360}.			centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					GGATACAACTGAAGCAGGCGG	0.682													g|||	1923	0.509404	0.6634	0.3069	3775	,	,		6030	0.1796		0.2604	False		,,,				2504	0.3988				p.Q89E		.											.	CTAG2-131	0			c.C265G						.	G	GLU/GLN,GLU/GLN	3117,713		1081,480,475,69,95	40	39	39		265,265	-3.3	0	X	dbSNP_123	39	2554,4171		366,1121,701,941,1168	yes	missense,missense	CTAG2	NM_020994.3,NM_172377.3	29,29	1447,1601,1176,1010,1263	CC,CG,C,GG,G		37.9777,18.6162,46.2719	benign,benign	89/211,89/181	153881525	5671,4884	2200	4297	6497	SO:0001583	missense	30848	exon1			ACAACTGAAGCAG	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.265C>G	X.37:g.153881525G>C	ENSP00000247306:p.Gln89Glu	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	221	10	NM_020994	0	0	0	0	0	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	CCDS14759.1	750	0.45207956600361665	229	0.8357664233576643	84	0.28378378378378377	58	0.116	141	0.22100313479623823	g	0.001	-3.347120	0.00016	0.813838	0.379777	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.27256	1.68;1.68	1.65	-3.31	0.04988	.	.	.	.	.	T	0.00012	0.0000	N	0.00308	-1.67	0.80722	P	0.0	B;B	0.24618	0.107;0.087	B;B	0.16722	0.016;0.01	T	0.39014	-0.9634	8	0.02654	T	1	.	1.7181	0.02905	0.2303:0.3703:0.2625:0.1369	rs17328091;rs17855366	89;89	O75638;O75638-2	CTAG2_HUMAN;.	E	89;89;31	ENSP00000247306:Q89E;ENSP00000358598:Q89E	ENSP00000247306:Q89E	Q	-	1	0	CTAG2	153534719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.469000	0.06648	-3.244000	0.00206	-1.390000	0.01156	CAG	0|0.004;C|0.526		0.682	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		C	153881525	G	C	153881525	3	2	34	1	0	0	0	0	1	0	0	0	4000	1299	45	3	514	3	CTAG2	23	153881525	Missense_Mutation	SNP	G	TCGA-OR-A5KS-01A-11D-A30A-10	83735050	153881525	1389035	138	8510											
KIAA0562	9731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	3732858	3732858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctggctgcagtgccGgggccttctgcagaatgtgt	13	13	2	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:3732858G>A	ENST00000378230.3	-	21	2972	c.2648C>T	c.(2647-2649)cCg>cTg	p.P883L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	883						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						CTGCAGTGCCGGGGCCTTCTG	0.587																																					p.P883L		.											.	CEP104-92	0			c.C2648T						.						48	40	43					1																	3732858		2177	4223	6400	SO:0001583	missense	9731	exon21			AGTGCCGGGGCCT	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.2648C>T	1.37:g.3732858G>A	ENSP00000367476:p.Pro883Leu	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	62	15	NM_014704	0	0	7	7	0	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.785|2.785	-0.252631|-0.252631	0.05829|0.05829	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.27557|.	1.66|.	5.02|5.02	-0.333|-0.333	0.12671|0.12671	.|.	0.843249|.	0.10562|.	N|.	0.660209|.	T|T	0.41858|0.41858	0.1177|0.1177	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.38824|0.38824	-0.9643|-0.9643	10|5	0.10902|.	T|.	0.67|.	.|.	10.9616|10.9616	0.47389|0.47389	0.099:0.0:0.7218:0.1792|0.099:0.0:0.7218:0.1792	.|.	883|.	O60308|.	CE104_HUMAN|.	L|W	883|180	ENSP00000367476:P883L|.	ENSP00000367476:P883L|.	P|R	-|-	2|1	0|2	CEP104|CEP104	3722718|3722718	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.114000|0.114000	0.19823|0.19823	0.007000|0.007000	0.13174|0.13174	-0.202000|-0.202000	0.10268|0.10268	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG	.		0.587	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		A	3732858	G	A	3732858	3	1	35	1	0	0	0	0	1	0	0	0	8211	1116	39	1	137	1	KIAA0562	1	3732858	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		3732858	245517763	1	8511											
CNR2	1269	bcgsc.ca	37	chr1	24201262	24201262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagcatggagcagaaAgcaaaggccttcttgacctg	12	10	1	2	rs2502993	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:24201262A>G	ENST00000374472.4	-	2	1007	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CNR2_ENST00000536471.1_Silent_p.A282A	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	282					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A282A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TGGAGCAGAAAGCAAAGGCCT	0.572													G|||	3272	0.653355	0.7943	0.6383	5008	,	,		22050	0.502		0.5875	False		,,,				2504	0.6973				p.A282A		.											.	CNR2-228	1	Substitution - coding silent(1)	stomach(1)	c.T846C						.	G		3310,1096	395.8+/-329.8	1261,788,154	92	82	85		846	1.3	1	1	dbSNP_100	85	4934,3666	526.1+/-380.9	1402,2130,768	no	coding-synonymous	CNR2	NM_001841.2		2663,2918,922	GG,GA,AA		42.6279,24.8752,36.6139		282/361	24201262	8244,4762	2203	4300	6503	SO:0001819	synonymous_variant	1269	exon2			GCAGAAAGCAAAG	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.846T>C	1.37:g.24201262A>G		Somatic	141	1		WXS	Illumina GAIIx	Phase_I	137	5	NM_001841	0	0	0	0	0	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																			A|0.359;G|0.641		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		G	24201262	A	G	24201262	2	3	35	1	0	0	0	0	0	0	0	1	3639	59	3	4		4	CNR2	1	24201262	Silent	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	20468404	24201262	225049359	2	8512											
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	39898819	39898820	+	Frame_Shift_Ins	INS	-	-	T													tggggaggagcaaaaaactgINStattacaggtgaattacatt							TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:39898819_39898820insT	ENST00000372915.3	+	66	17332_17333	c.17245_17246insT	c.(17245-17247)gtafs	p.V5749fs	MACF1_ENST00000567887.1_Frame_Shift_Ins_p.V5890fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.V5853fs|MACF1_ENST00000539005.1_Frame_Shift_Ins_p.V3661fs|MACF1_ENST00000361689.2_Frame_Shift_Ins_p.V3791fs|MACF1_ENST00000317713.7_Frame_Shift_Ins_p.V3791fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.V4293fs|MACF1_ENST00000545844.1_Frame_Shift_Ins_p.V3791fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5749					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)			GCAAAAAACTGTATTACAGGTG	0.361																																					p.V3791fs		.											.	MACF1-165	0			c.11371_11372insT						.																																			SO:0001589	frameshift_variant	23499	exon64			AAAACTGTATTAC	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.17246dupT	1.37:g.39898820_39898820dupT	ENSP00000362006:p.Val5749fs	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	269	83	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37																																																																																				.		0.361	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39898820	-	T	39898819	7	5	35	1	0	1	1	0	0	0	0	0	9180	1377	48	0	17772	0	MACF1	1	39898819	Frame_Shift_Ins	INS	-	TCGA-OR-A5KT-01A-11D-A29I-10	15697557	39898819	209351802	3	8513											
MTF2	22823	broad.mit.edu;bcgsc.ca	37	chr1	93575975	93575975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgttttatcttggcaCtatcaaaaaggcaagttact	8	7	2	0	rs371292695		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:93575975C>G	ENST00000370298.4	+	2	483	c.194C>G	c.(193-195)aCt>aGt	p.T65S	MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.T65S|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	65	Tudor.				chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TATCTTGGCACTATCAAAAAG	0.328																																					p.T65S		.											.	MTF2-92	0			c.C194G						.	C	,SER/THR,,SER/THR	0,4406		0,0,2203	147	148	147		,194,,194	5.4	1	1		147	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense,intron,missense	MTF2	NM_001164391.1,NM_001164392.1,NM_001164393.1,NM_007358.3	,58,,58	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,possibly-damaging,,possibly-damaging	,65/537,,65/594	93575975	1,13005	2203	4300	6503	SO:0001583	missense	22823	exon2			TTGGCACTATCAA	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.194C>G	1.37:g.93575975C>G	ENSP00000359321:p.Thr65Ser	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	243	8	NM_001164392	0	0	0	0	0	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954032	0.53293	0.0	1.16E-4	ENSG00000143033	ENST00000370298;ENST00000370303	T;T	0.46063	0.88;0.88	5.44	5.44	0.79542	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.58810	1.83	0.80722	D	1	B;P	0.42010	0.402;0.768	B;B	0.43386	0.258;0.418	T	0.24693	-1.0153	10	0.46703	T	0.11	-8.3107	19.2694	0.94003	0.0:1.0:0.0:0.0	.	65;65	B1AKT6;Q9Y483	.;MTF2_HUMAN	S	65	ENSP00000359321:T65S;ENSP00000359326:T65S	ENSP00000359321:T65S	T	+	2	0	MTF2	93348563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.563000	0.86464	0.557000	0.71058	ACT	.		0.328	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		G	93575975	C	G	93575975	3	3	35	1	0	0	0	0	1	0	0	0	9961	565	20	3	200	3	MTF2	1	93575975	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	53677156	93575975	155674646	4	8514											
FMO5	2330	broad.mit.edu	37	chr1	146656097	146656097	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttaggcccctttattcCgggacaatttctcagacttt	6	13	1	1	rs72708554	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:146656097C>T	ENST00000254090.4	-	0	2632				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.G457R	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ccctttattccgggacaattt	0.353													C|||	263	0.052516	0.062	0.0331	5008	,	,		16675	0.0069		0.0427	False		,,,				2504	0.1104				p.G457R		.											.	FMO5-93	0			c.G1369A						.						100	88	91					1																	146656097		692	1591	2283	SO:0001628	intergenic_variant	2330	exon9			TTATTCCGGGACA	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607		1.37:g.146656097C>T		Somatic	77	1		WXS	Illumina GAIIx	Phase_I	108	4	NM_001144829	0	0	4	4	0	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	69	0.03159340659340659	27	0.054878048780487805	11	0.03038674033149171	5	0.008741258741258742	26	0.03430079155672823	.	6.198	0.404777	0.11754	.	.	ENSG00000131781	ENST00000441068	T	0.44482	0.92	1.91	0.694	0.18062	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.40905	-0.9538	9	0.15066	T	0.55	.	3.6634	0.08246	0.0:0.2059:0.0:0.7941	.	457	C9JJD1	.	R	457	ENSP00000416011:G457R	ENSP00000416011:G457R	G	-	1	0	FMO5	145122721	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.031000	0.12287	0.210000	0.20664	-0.416000	0.06073	GGA	C|0.968;T|0.032		0.353	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		T	146656097	C	T	146656097	1	4	35	0	1	0	0	0	0	0	0	0	5980	661	23	1		1	FMO5	1	146656097	IGR	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	53080122	146656097	102594524	5	8515											
ACP6	51205	broad.mit.edu	37	chr1	147142085	147142085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcggccagggccAcccgccgctggtgcaggcag	15	17	0	0	rs201678741		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:147142085A>C	ENST00000369238.6	-	1	533	c.86T>G	c.(85-87)gTg>gGg	p.V29G	ACP6_ENST00000392988.2_Missense_Mutation_p.V29G	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	29					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGCCAGGGCCACCCGCCGCTG	0.657																																					p.V29G		.											.	ACP6-94	0			c.T86G						.						12	10	11					1																	147142085		2053	4027	6080	SO:0001583	missense	51205	exon1			AGGGCCACCCGCC	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.86T>G	1.37:g.147142085A>C	ENSP00000358241:p.Val29Gly	Somatic	35	6		WXS	Illumina GAIIx	Phase_I	96	26	NM_016361	0	0	3	4	1	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	CCDS928.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149393	0.37923	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.48522	2.65;0.81	5.28	-5.16	0.02857	.	0.609019	0.16327	N	0.219309	T	0.09555	0.0235	L	0.34521	1.04	0.43385	D	0.99549	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.22730	-1.0208	10	0.19147	T	0.46	.	1.0577	0.01593	0.2021:0.3491:0.2212:0.2275	.	29;29	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	G	29	ENSP00000358241:V29G;ENSP00000376714:V29G	ENSP00000358241:V29G	V	-	2	0	ACP6	145608709	0.001000	0.12720	0.927000	0.36925	0.947000	0.59692	-0.635000	0.05471	-0.919000	0.03803	-0.460000	0.05396	GTG	.		0.657	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		C	147142085	A	C	147142085	3	2	35	1	0	0	0	0	1	0	0	0	165	159	6	5	1240	5	ACP6	1	147142085	Missense_Mutation	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	485988	147142085	102108536	6	8516											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	35	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	6091616	153233701	96016920	7	8517											
TNN	63923	broad.mit.edu;bcgsc.ca	37	chr1	175048704	175048704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcgagtgcgtgcgcggCgtgtgccagtgccacgaaga	17	12	0	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:175048704C>T	ENST00000239462.4	+	3	758	c.645C>T	c.(643-645)ggC>ggT	p.G215G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	215	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCGTGCGCGGCGTGTGCCAGT	0.687																																					p.G215G		.											.	TNN-138	0			c.C645T						.						17	13	14					1																	175048704		2190	4282	6472	SO:0001819	synonymous_variant	63923	exon3			GCGCGGCGTGTGC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.645C>T	1.37:g.175048704C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	132	6	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			.		0.687	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175048704	C	T	175048704	2	4	35	1	0	0	0	0	0	0	0	1	16370	755	27	1		1	TNN	1	175048704	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	21815003	175048704	74201917	8	8518											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	35	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	4002596	179051300	70199321	9	8519											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	35	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	21829678	200880978	48369643	10	8520											
KIAA1804	84451	broad.mit.edu;bcgsc.ca	37	chr1	233515177	233515177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaccttctttctccAcaaagtgcctgctgcagatg	6	15	3	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:233515177A>T	ENST00000366624.3	+	9	2686	c.2425A>T	c.(2425-2427)Aca>Tca	p.T809S	MLK4_ENST00000366622.1_Missense_Mutation_p.T255S	NM_032435.2	NP_115811.2																					TTCTTTCTCCACAAAGTGCCT	0.582																																					p.T809S		.											.	KIAA1804-523	0			c.A2425T						.						79	70	73					1																	233515177		2203	4300	6503	SO:0001583	missense	0	exon9			TTCTCCACAAAGT																												ENST00000366624.3:c.2425A>T	1.37:g.233515177A>T	ENSP00000355583:p.Thr809Ser	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	196	7	NM_032435	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072525	0.36566	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.80909	-1.43;2.34	4.64	4.64	0.57946	.	0.078045	0.49305	D	0.000144	D	0.84151	0.5409	L	0.59436	1.845	0.32282	N	0.567449	D;P	0.63880	0.993;0.799	P;B	0.60886	0.88;0.194	D	0.86507	0.1807	10	0.62326	D	0.03	.	8.8566	0.35231	0.916:0.0:0.084:0.0	.	256;809	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	S	809;255	ENSP00000355583:T809S;ENSP00000355581:T255S	ENSP00000355581:T255S	T	+	1	0	RP5-862P8.2	231581800	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	3.011000	0.49567	1.937000	0.56155	0.523000	0.50628	ACA	.		0.582	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			T	233515177	A	T	233515177	3	4	35	1	0	0	0	0	1	0	0	0	8286	159	6	5	2459	5	KIAA1804	1	233515177	Missense_Mutation	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	32634199	233515177	15735444	11	8521											
SH3BP5L	80851	hgsc.bcm.edu	37	chr1	249106348	249106348	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagccccgcaccctcGgccccctcaatcccgctgtc	6	24	1	0	rs202116012	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr1:249106348G>C	ENST00000366472.5	-	7	2162	c.933C>G	c.(931-933)gcC>gcG	p.A311A	SH3BP5L_ENST00000411742.2_Silent_p.A279A|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	311										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)			CCGCACCCTCGGCCCCCTCAA	0.746													G|||	23	0.00459265	8e-04	0.0144	5008	,	,		12601	0		0.0119	False		,,,				2504	0				p.A311A		.											.	SH3BP5L-90	0			c.C933G						.	G		17,4377		0,17,2180	13	16	15		933	-8.6	0.4	1		15	135,8433		2,131,4151	no	coding-synonymous	SH3BP5L	NM_030645.1		2,148,6331	CC,CG,GG		1.5756,0.3869,1.1727		311/394	249106348	152,12810	2197	4284	6481	SO:0001819	synonymous_variant	80851	exon7			ACCCTCGGCCCCC	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.933C>G	1.37:g.249106348G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	4	NM_030645	0	0	7	7	0	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																			G|0.991;C|0.008		0.746	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		C	249106348	G	C	249106348	2	2	35	1	0	0	0	0	0	0	0	1	14293	1103	39	2		2	SH3BP5L	1	249106348	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	15591171	249106348	144273	12	8522											
GTF3C2	2976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27560194	27560194	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacttctcctcctggggcagGtagggagcggcctcactggg	16	12	2	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr2:27560194G>C	ENST00000359541.2	-	7	1473	c.1044C>G	c.(1042-1044)taC>taG	p.Y348*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Y348*|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	348					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGGCAGGTAGGGAGCGG	0.502																																					p.S348S		.											.	GTF3C2-92	0			c.T1044G						.						49	44	46					2																	27560194		2203	4300	6503	SO:0001587	stop_gained	2976	exon8			GGGCAGGTAGGGA	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1044C>G	2.37:g.27560194G>C	ENSP00000352536:p.Tyr348*	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	172	54	NM_001521	0	0	2	2	0	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	39	7.605707	0.98387	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	.	.	.	5.8	3.01	0.34805	.	0.061950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1178	9.7697	0.40582	0.217:0.0:0.783:0.0	.	.	.	.	X	348	.	ENSP00000264720:Y348X	Y	-	3	2	GTF3C2	27413698	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.579000	0.46059	1.473000	0.48159	0.563000	0.77884	TAC	.		0.502	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			C	27560194	G	C	27560194	4	2	35	1	0	0	0	0	0	1	0	0	6900	1256	44	3	1743	3	GTF3C2	2	27560194	Nonsense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		27560194	215639179	13	8523											
SCN1A	6323	broad.mit.edu;bcgsc.ca	37	chr2	166898935	166898935	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttcagtggttgttccCtgtaaaaaaaaatgctaatg	8	6	2	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr2:166898935C>A	ENST00000303395.4	-	12	2043		c.e12-1		AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTTGTTCCCTGTAAAAAAA	0.368																																					.		.											.	SCN1A-147	0			c.2011-1G>T						.						93	91	92					2																	166898935		2203	4300	6503	SO:0001630	splice_region_variant	6323	exon13			TGTTCCCTGTAAA	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2044-1G>T	2.37:g.166898935C>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	108	5	NM_006920	0	0	0	0	0	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547158	0.45383	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166607181	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	5.851000	0.69481	2.745000	0.94114	0.655000	0.94253	.	.		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Intron	A	166898935	C	A	166898935	5	1	35	1	0	0	0	0	0	0	1	0	13959	695	24	3	4046	3	SCN1A	2	166898935	Splice_Site	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	139338741	166898935	76300438	14	8524											
TRPM8	79054	broad.mit.edu	37	chr2	234858625	234858625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaaaaataaaattccTtgtgtggtggtggaaggctc	10	7	1	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr2:234858625T>C	ENST00000324695.4	+	9	1015	c.975T>C	c.(973-975)ccT>ccC	p.P325P	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Silent_p.P13P	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	325					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATAAAATTCCTTGTGTGGTGG	0.537																																					p.P325P		.											.	TRPM8-94	0			c.T975C						.						73	69	71					2																	234858625		2203	4300	6503	SO:0001819	synonymous_variant	79054	exon9			AATTCCTTGTGTG	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.975T>C	2.37:g.234858625T>C		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	106	8	NM_024080	0	0	0	0	0	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																			.		0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		C	234858625	T	C	234858625	2	2	35	1	0	0	0	0	0	0	0	1	16640	1596	56	4		4	TRPM8	2	234858625	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	67959690	234858625	8340748	15	8525											
SLC6A11	6538	bcgsc.ca	37	chr3	10967739	10967739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggtcaccatgatgccTctctccccgctgtgggccac	11	16	2	1	rs2272395	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr3:10967739T>C	ENST00000254488.2	+	9	1236	c.1170T>C	c.(1168-1170)ccT>ccC	p.P390P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	390					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCATGATGCCTCTCTCCCCGC	0.627													T|||	1663	0.332069	0.4569	0.3098	5008	,	,		16789	0.1657		0.4642	False		,,,				2504	0.2147				p.P390P		.											.	SLC6A11-132	0			c.T1170C						.	T		2020,2386	561.8+/-380.8	475,1070,658	244	249	248		1170	-6.8	0.2	3	dbSNP_100	248	3788,4812	536.2+/-383.0	844,2100,1356	no	coding-synonymous	SLC6A11	NM_014229.1		1319,3170,2014	CC,CT,TT		44.0465,45.8466,44.6563		390/633	10967739	5808,7198	2203	4300	6503	SO:0001819	synonymous_variant	6538	exon9			GATGCCTCTCTCC	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1170T>C	3.37:g.10967739T>C		Somatic	134	1		WXS	Illumina GAIIx	Phase_I	104	5	NM_014229	0	0	0	0	0	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																			T|0.591;C|0.409		0.627	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		C	10967739	T	C	10967739	2	2	35	1	0	0	0	0	0	0	0	1	14719	1538	54	4		4	SLC6A11	3	10967739	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10		10967739	187054691	16	8526											
SLC6A1	6529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	11072862	11072862	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcttttcatcttgcaGgggggtatttatgtcttcaa	8	9	6	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr3:11072862G>T	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCATCTTGCAGGGGGGTATTT	0.502																																					.		.											.	SLC6A1-92	0			c.1324-1G>T						.						244	228	234					3																	11072862		2203	4300	6503	SO:0001630	splice_region_variant	6529	exon13			CTTGCAGGGGGGT		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1324-1G>T	3.37:g.11072862G>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	65	28	NM_003042	0	0	0	0	0	Q8N4K8	Splice_Site	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005224	0.74932	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A1	11047862	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.700000	0.98707	2.587000	0.87381	0.655000	0.94253	.	.		0.502	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	Intron	T	11072862	G	T	11072862	5	4	35	1	0	0	0	0	0	0	1	0	14718	1014	35	3	1365	3	SLC6A1	3	11072862	Splice_Site	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	105123	11072862	186949568	17	8527											
PRICKLE2	166336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	64133073	64133073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctacgtcggctgacaGccggttagaactcacttgca	13	11	2	2	rs539536335		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr3:64133073G>A	ENST00000295902.6	-	7	1678	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	PRICKLE2_ENST00000564377.1_Silent_p.L421L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	365					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCGGCTGACAGCCGGTTAGAA	0.612																																					p.L365L		.											.	PRICKLE2-95	0			c.C1093T						.						94	106	102					3																	64133073		2203	4300	6503	SO:0001819	synonymous_variant	166336	exon7			CTGACAGCCGGTT	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1093C>T	3.37:g.64133073G>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	107	30	NM_198859	0	0	0	0	0	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																			.		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		A	64133073	G	A	64133073	2	1	35	1	0	0	0	0	0	0	0	1	12529	962	34	3		3	PRICKLE2	3	64133073	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	53060211	64133073	133889357	18	8528											
TIPARP	25976	broad.mit.edu	37	chr3	156395550	156395550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcctccctctcctcctgatGacttttcatgccaaatgaga	6	14	2	3			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr3:156395550G>A	ENST00000461166.1	+	2	652	c.64G>A	c.(64-66)Gac>Aac	p.D22N	TIPARP_ENST00000542783.1_Missense_Mutation_p.D22N|TIPARP_ENST00000486483.1_Missense_Mutation_p.D22N|TIPARP_ENST00000295924.7_Missense_Mutation_p.D22N	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	22					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCTCCTGATGACTTTTCATG	0.453																																					p.D22N	Ovarian(171;276 1987 3319 6837 11197)	.											.	TIPARP-523	0			c.G64A						.						97	99	98					3																	156395550		2203	4300	6503	SO:0001583	missense	25976	exon2			CCTGATGACTTTT	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.64G>A	3.37:g.156395550G>A	ENSP00000420612:p.Asp22Asn	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_015508	0	0	0	0	0	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653465	0.29425	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.24538	2.88;2.88;2.88;1.85;2.88;2.88	5.37	4.5	0.54988	.	0.225320	0.44097	N	0.000488	T	0.18383	0.0441	N	0.19112	0.55	0.35570	D	0.805438	B	0.26635	0.155	B	0.26094	0.066	T	0.09818	-1.0657	10	0.49607	T	0.09	.	12.9595	0.58449	0.1427:0.0:0.8573:0.0	.	22	Q7Z3E1	PARPT_HUMAN	N	22	ENSP00000418757:D22N;ENSP00000295924:D22N;ENSP00000420612:D22N;ENSP00000419982:D22N;ENSP00000418829:D22N;ENSP00000438345:D22N	ENSP00000295924:D22N	D	+	1	0	TIPARP	157878244	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.668000	0.61568	0.664000	0.31047	-1.151000	0.01829	GAC	.		0.453	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		A	156395550	G	A	156395550	3	1	35	1	0	0	0	0	1	0	0	0	15971	1290	45	3	66	3	TIPARP	3	156395550	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	92262477	156395550	41626880	19	8529											
CRMP1	1400	hgsc.bcm.edu	37	chr4	5894586	5894586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaggcgccctccaccgcGgcgaacatgccgccgtactt	11	17	0	0	rs143304363	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr4:5894586G>A	ENST00000324989.7	-	1	199	c.111C>T	c.(109-111)gcC>gcT	p.A37A	CRMP1_ENST00000512574.1_5'Flank	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	0					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTCCACCGCGGCGAACATGC	0.756													G|||	277	0.0553115	0.0076	0.0461	5008	,	,		4031	0.0437		0.0805	False		,,,				2504	0.1125				p.A37A		.											.	CRMP1-92	0			c.C111T						.	G		56,3324		2,52,1636	4	4	4		111	0.2	1	4	dbSNP_134	4	409,6095		9,391,2852	no	coding-synonymous	CRMP1	NM_001014809.1		11,443,4488	AA,AG,GG		6.2884,1.6568,4.7046		37/687	5894586	465,9419	1690	3252	4942	SO:0001819	synonymous_variant	1400	exon1			CACCGCGGCGAAC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000324989.7:c.111C>T	4.37:g.5894586G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_001014809	0	0	0	0	0	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000324989.7	37	CCDS33950.1																																																																																			G|0.946;A|0.054		0.756	CRMP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246814.2	NM_001313		A	5894586	G	A	5894586	2	1	35	1	0	0	0	0	0	0	0	1	3897	1103	39	1		1	CRMP1	4	5894586	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		5894586	185259690	20	8530											
JAKMIP1	152789	broad.mit.edu	37	chr4	6087227	6087227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtggtgccgctcggcctCcttgacctgaaccagctgct	11	15	0	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr4:6087227C>T	ENST00000282924.5	-	4	1239	c.754G>A	c.(754-756)Gag>Aag	p.E252K	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E252K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E87K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E252K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E87K|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	252	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCTCGGCCTCCTTGACCTGA	0.612																																					p.E252K		.											.	JAKMIP1-292	0			c.G754A						.						96	97	97					4																	6087227		2203	4300	6503	SO:0001583	missense	152789	exon4			CGGCCTCCTTGAC	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.754G>A	4.37:g.6087227C>T	ENSP00000282924:p.Glu252Lys	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	82	3	NM_001099433	0	0	0	0	0	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160830	0.94727	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.1	4.1	0.47936	.	0.091188	0.45606	D	0.000356	T	0.67720	0.2923	M	0.77820	2.39	0.52099	D	0.999946	D;P;D;D;P	0.67145	0.996;0.952;0.996;0.996;0.952	D;P;D;D;P	0.76071	0.986;0.6;0.987;0.987;0.461	T	0.68918	-0.5282	10	0.35671	T	0.21	.	15.5262	0.75910	0.0:1.0:0.0:0.0	.	87;252;87;252;252	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	252;87;252;252;144;252;252;87	ENSP00000386711:E252K;ENSP00000387042:E87K;ENSP00000282924:E252K;ENSP00000386925:E252K;ENSP00000386745:E87K	ENSP00000282924:E252K	E	-	1	0	JAKMIP1	6138128	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.864000	0.75494	2.135000	0.66039	0.655000	0.94253	GAG	.		0.612	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		T	6087227	C	T	6087227	3	4	35	1	0	0	0	0	1	0	0	0	7967	864	30	3	1888	3	JAKMIP1	4	6087227	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	192641	6087227	185067049	21	8531											
ALPK1	80216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	113352982	113352982	+	Frame_Shift_Del	DEL	G	G	-													caactgcgatgtcaaagacaGgcaggggaaagagcagggag							TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr4:113352982delG	ENST00000458497.1	+	11	2558	c.2279delG	c.(2278-2280)aggfs	p.R760fs	ALPK1_ENST00000504176.2_Frame_Shift_Del_p.R682fs|ALPK1_ENST00000177648.9_Frame_Shift_Del_p.R760fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	760							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTCAAAGACAGGCAGGGGAAA	0.468																																					p.R760fs		.											.	ALPK1-337	0			c.2279delG						.						61	67	65					4																	113352982		2203	4300	6503	SO:0001589	frameshift_variant	80216	exon11			AAGACAGGCAGGG	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2279delG	4.37:g.113352982delG	ENSP00000398048:p.Arg760fs	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	51	16	NM_001102406	0	0	0	0	0	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Frame_Shift_Del	DEL	ENST00000458497.1	37	CCDS3697.1																																																																																			.		0.468	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		-	113352982	G	-	113352982	7	5	35	1	0	1	0	1	0	0	0	0	544	1000	35	0	2313	0	ALPK1	4	113352982	Frame_Shift_Del	DEL	G	TCGA-OR-A5KT-01A-11D-A29I-10	107265755	113352982	77801294	22	8532											
IL2	3558	broad.mit.edu	37	chr4	123374962	123374962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttagcacttcctccagaGgtttgagttcttcttctaga	7	9	3	3			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr4:123374962G>T	ENST00000226730.4	-	3	538	c.254C>A	c.(253-255)cCt>cAt	p.P85H		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	85					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TTCCTCCAGAGGTTTGAGTTC	0.363			T	TNFRSF17	intestinal T-cell lymphoma																																p.P85H		.		Dom	yes		4	4q26-q27	3558	interleukin 2		L	.	IL2-659	0			c.C254A						.						132	130	131					4																	123374962		2202	4300	6502	SO:0001583	missense	3558	exon3			TCCAGAGGTTTGA	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"Interleukins and interleukin receptors"	6001	protein-coding gene	gene with protein product	"T cell growth factor"	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.254C>A	4.37:g.123374962G>T	ENSP00000226730:p.Pro85His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	101	4	NM_000586	0	0	0	0	0	P01585	Missense_Mutation	SNP	ENST00000226730.4	37	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857431	0.51376	.	.	ENSG00000109471	ENST00000226730	.	.	.	4.1	2.36	0.29203	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.836879	0.10293	N	0.692116	T	0.61009	0.2313	M	0.69823	2.125	0.32387	N	0.553821	D	0.76494	0.999	D	0.63877	0.919	T	0.62826	-0.6772	9	0.72032	D	0.01	0.002	5.148	0.14994	0.1052:0.0:0.6915:0.2032	.	85	P60568	IL2_HUMAN	H	85	.	ENSP00000226730:P85H	P	-	2	0	IL2	123594412	0.019000	0.18553	0.812000	0.32479	0.983000	0.72400	0.568000	0.23623	0.687000	0.31509	0.460000	0.39030	CCT	.		0.363	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			T	123374962	G	T	123374962	3	4	35	1	0	0	0	0	1	0	0	0	7693	1000	35	3	215	3	IL2	4	123374962	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	10021980	123374962	67779314	23	8533											
SRD5A1	6715	bcgsc.ca	37	chr5	6652009	6652009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctatgccactgttggcGtgtacaatggcgattatgtt	11	8	0	0	rs8192186	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr5:6652009G>A	ENST00000274192.5	+	2	582	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	116					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.A116A(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	CACTGTTGGCGTGTACAATGG	0.413													G|||	1463	0.292133	0.3328	0.3919	5008	,	,		18667	0.1587		0.3897	False		,,,				2504	0.2035				p.A116A		.											.	SRD5A1-90	1	Substitution - coding silent(1)	stomach(1)	c.G348A						.	G		1441,2965	467.7+/-354.9	242,957,1004	178	154	162		348	-11.4	0	5	dbSNP_117	162	3219,5381	486.1+/-371.8	610,1999,1691	no	coding-synonymous	SRD5A1	NM_001047.2		852,2956,2695	AA,AG,GG		37.4302,32.7054,35.8296		116/260	6652009	4660,8346	2203	4300	6503	SO:0001819	synonymous_variant	6715	exon2			GTTGGCGTGTACA	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.348G>A	5.37:g.6652009G>A		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	214	7	NM_001047	0	0	2	2	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1																																																																																			G|0.652;A|0.348		0.413	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		A	6652009	G	A	6652009	2	1	35	1	0	0	0	0	0	0	0	1	15185	1132	40	1		1	SRD5A1	5	6652009	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		6652009	174263251	24	8534											
TCERG1	10915	hgsc.bcm.edu	37	chr5	145838662	145838662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccaggcccaggcccaGgcccaggcccaagcccaagc	12	20	0	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr5:145838662G>A	ENST00000296702.5	+	4	692	c.654G>A	c.(652-654)caG>caA	p.Q218Q	TCERG1_ENST00000394421.2_Silent_p.Q218Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	218	Ala/Gln-rich.				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)			cccaggcccaggcccaggccc	0.731																																					p.Q218Q		.											.	TCERG1-92	0			c.G654A						.						11	15	14					5																	145838662		2192	4280	6472	SO:0001819	synonymous_variant	10915	exon4			GGCCCAGGCCCAG	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.654G>A	5.37:g.145838662G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	76	14	NM_006706	0	0	0	0	0	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			.		0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		A	145838662	G	A	145838662	2	1	35	1	0	0	0	0	0	0	0	1	15732	991	35	3		3	TCERG1	5	145838662	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	139186653	145838662	35076598	25	8535											
SLC36A2	153201	bcgsc.ca	37	chr5	150723806	150723806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgttgcctttcaccaGgtgaatcaaggcctggaaca	10	12	2	1	rs192192	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr5:150723806G>A	ENST00000335244.4	-	2	316	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	SLC36A2_ENST00000521967.1_Silent_p.L63L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	63					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CCTTTCACCAGGTGAATCAAG	0.557													G|||	3131	0.6252	0.3064	0.6369	5008	,	,		21922	0.9841		0.5348	False		,,,				2504	0.771				p.L63L		.											.	SLC36A2-91	0			c.C187T						.	G		1606,2800	496.4+/-363.5	290,1026,887	99	83	88		187	0.2	1	5	dbSNP_79	88	4505,4095	590.4+/-392.7	1165,2175,960	no	coding-synonymous	SLC36A2	NM_181776.2		1455,3201,1847	AA,AG,GG		47.6163,36.4503,46.986		63/484	150723806	6111,6895	2203	4300	6503	SO:0001819	synonymous_variant	153201	exon2			TCACCAGGTGAAT	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.187C>T	5.37:g.150723806G>A		Somatic	198	1		WXS	Illumina GAIIx	Phase_I	221	7	NM_181776	0	0	0	0	0	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																			G|0.470;A|0.530		0.557	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			A	150723806	G	A	150723806	2	1	35	1	0	0	0	0	0	0	0	1	14639	991	35	3		3	SLC36A2	5	150723806	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	4885144	150723806	30191454	26	8536											
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	169482342	169482342	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccagcctgtcttggAtgaacatcccaggttcaaga	9	12	2	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr5:169482342A>T	ENST00000256935.8	+	42	4327	c.4247A>T	c.(4246-4248)gAt>gTt	p.D1416V	DOCK2_ENST00000540750.1_Missense_Mutation_p.D477V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D908V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1416	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTCTTGGATGAACATCCC	0.478																																					p.D1416V		.											.	DOCK2-97	0			c.A4247T						.						92	87	89					5																	169482342		2203	4300	6503	SO:0001583	missense	1794	exon42			TCTTGGATGAACA	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.4247A>T	5.37:g.169482342A>T	ENSP00000256935:p.Asp1416Val	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	125	9	NM_004946	0	0	1	1	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057488	0.76074	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.11604	3.4;3.04;2.76	5.07	5.07	0.68467	.	0.055954	0.64402	D	0.000002	T	0.15782	0.0380	M	0.76938	2.355	0.80722	D	1	P;B	0.42039	0.769;0.18	B;B	0.34652	0.187;0.045	T	0.03728	-1.1009	10	0.87932	D	0	.	14.8312	0.70149	1.0:0.0:0.0:0.0	.	908;1416	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1416;908;477	ENSP00000256935:D1416V;ENSP00000429283:D908V;ENSP00000438827:D477V	ENSP00000256935:D1416V	D	+	2	0	DOCK2	169414920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.572000	0.82409	1.899000	0.54978	0.533000	0.62120	GAT	.		0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169482342	A	T	169482342	3	4	35	1	0	0	0	0	1	0	0	0	4701	333	12	5	4413	5	DOCK2	5	169482342	Missense_Mutation	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	18758536	169482342	11432918	27	8537											
BTNL3	10917	bcgsc.ca	37	chr5	180432564	180432564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggatgacgtagacaggGggaagaacaatgtgactttg	16	5	0	4	rs73815153	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr5:180432564G>T	ENST00000342868.6	+	8	1277	c.1093G>T	c.(1093-1095)Ggg>Tgg	p.G365W	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	365	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CGTAGACAGGGGGAAGAACAA	0.478													G|||	492	0.0982428	0.2171	0.0648	5008	,	,		19317	0.0169		0.0517	False		,,,				2504	0.093				p.G365W		.											.	.	0			c.G1093T						.	G	TRP/GLY	846,3534		86,674,1430	181	200	194		1093	-5.4	0	5	dbSNP_130	194	428,8140		13,402,3869	yes	missense	BTNL3	NM_197975.2	184	99,1076,5299	TT,TG,GG		4.9953,19.3151,9.8394	possibly-damaging	365/467	180432564	1274,11674	2190	4284	6474	SO:0001583	missense	10917	exon8			GACAGGGGGAAGA	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1093G>T	5.37:g.180432564G>T	ENSP00000341787:p.Gly365Trp	Somatic	285	1		WXS	Illumina GAIIx	Phase_I	254	9	NM_197975	0	0	0	0	0	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	169	0.07738095238095238	97	0.19715447154471544	24	0.06629834254143646	11	0.019230769230769232	37	0.048812664907651716	G	5.820	0.335558	0.11013	0.193151	0.049953	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.61627	0.09	3.0	-5.43	0.02632	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.00073	0.0002	L	0.43923	1.385	0.80722	P	0.0	B;P	0.43024	0.001;0.798	B;B	0.40636	0.001;0.335	T	0.04216	-1.0968	8	0.62326	D	0.03	.	7.6868	0.28544	0.3213:0.1436:0.5351:0.0	.	331;365	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	W	365;331	ENSP00000341787:G365W	ENSP00000341787:G365W	G	+	1	0	BTNL3	180365170	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.383000	0.07398	-1.134000	0.02899	-1.373000	0.01185	GGG	G|0.927;T|0.073		0.478	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		T	180432564	G	T	180432564	3	4	35	1	0	0	0	0	1	0	0	0	1570	1232	43	3	1123	3	BTNL3	5	180432564	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	10950222	180432564	482696	28	8538											
C6orf105	84830	bcgsc.ca	37	chr6	11723636	11723636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagatgctggcgatgaagaCgtagctgagagagaagaaag	16	4	0	6	rs2076185	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:11723636C>T	ENST00000414691.3	-	5	1014	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	ADTRP_ENST00000379413.2_Missense_Mutation_p.V202I|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.V220I	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	202			V -> I (in dbSNP:rs2076185).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GCGATGAAGACGTAGCTGAGA	0.493													C|||	789	0.157548	0.0741	0.0418	5008	,	,		19217	0.4812		0.0368	False		,,,				2504	0.1431				p.V220I		.											.	.	0			c.G658A						.	C	ILE/VAL,ILE/VAL	330,4076	174.8+/-204.3	12,306,1885	200	199	199		658,604	-11.9	0	6	dbSNP_96	199	226,8374	93.8+/-155.7	2,222,4076	yes	missense,missense	C6orf105	NM_001143948.1,NM_032744.3	29,29	14,528,5961	TT,TC,CC		2.6279,7.4898,4.275	benign,benign	220/249,202/231	11723636	556,12450	2203	4300	6503	SO:0001583	missense	84830	exon6			TGAAGACGTAGCT	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.604G>A	6.37:g.11723636C>T	ENSP00000404416:p.Val202Ile	Somatic	187	1		WXS	Illumina GAIIx	Phase_I	148	9	NM_001143948	0	0	0	0	0	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	CCDS4521.1	337	0.1543040293040293	30	0.06097560975609756	10	0.027624309392265192	264	0.46153846153846156	33	0.04353562005277045	C	4.836	0.155405	0.09236	0.074898	0.026279	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000503285;ENST00000379413	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.96	-11.9	0.00025	.	1.141520	0.06148	N	0.673551	T	0.01189	0.0039	N	0.00446	-1.495	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34354	-0.9832	9	0.08381	T	0.77	-1.3615	5.177	0.15141	0.0967:0.3665:0.3859:0.151	rs2076185;rs52797021;rs56622535;rs59870797;rs2076185	220;202	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	I	202;220;63;202	ENSP00000404416:V202I;ENSP00000229583:V220I;ENSP00000426507:V63I;ENSP00000368723:V202I	ENSP00000229583:V220I	V	-	1	0	C6orf105	11831622	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-1.876000	0.01633	-1.553000	0.01702	-0.238000	0.12139	GTC	C|0.890;T|0.110		0.493	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		T	11723636	C	T	11723636	3	4	35	1	0	0	0	0	1	0	0	0	2325	536	19	1	96	1	C6orf105	6	11723636	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		11723636	159391431	29	8539											
SKIV2L	6499	broad.mit.edu;bcgsc.ca	37	chr6	31935101	31935101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctctctcagcaggaaggGtggtggttgtgaagaatcag	15	6	3	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:31935101G>A	ENST00000375394.2	+	21	2643	c.2530G>A	c.(2530-2532)Gtg>Atg	p.V844M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.V651M|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	844					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						AGCAGGAAGGGTGGTGGTTGT	0.547																																					p.V844M		.											.	SKIV2L-290	0			c.G2530A						.						148	124	133					6																	31935101		1508	2709	4217	SO:0001583	missense	6499	exon21			GGAAGGGTGGTGG		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.2530G>A	6.37:g.31935101G>A	ENSP00000364543:p.Val844Met	Somatic	377	0		WXS	Illumina GAIIx	Phase_I	232	11	NM_006929	0	0	6	7	1	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445494	0.84101	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.54866	0.67;0.55	5.13	5.13	0.70059	.	0.062232	0.64402	D	0.000005	T	0.58192	0.2105	L	0.55481	1.735	0.58432	D	0.999995	D	0.76494	0.999	D	0.73708	0.981	T	0.62062	-0.6933	10	0.87932	D	0	-25.3154	11.0036	0.47620	0.0861:0.0:0.9139:0.0	.	844	Q15477	SKIV2_HUMAN	M	844;686;651	ENSP00000364543:V844M;ENSP00000442645:V651M	ENSP00000364543:V844M	V	+	1	0	SKIV2L	32043080	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.458000	0.73509	2.675000	0.91044	0.655000	0.94253	GTG	.		0.547	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31935101	G	A	31935101	3	1	35	1	0	0	0	0	1	0	0	0	14404	1261	44	3	2612	3	SKIV2L	6	31935101	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	20211465	31935101	139179966	30	8540											
DST	667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	56482929	56482929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtctcatcaaaagttAtctgtaactcggtgcttgtc	9	8	3	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:56482929A>T	ENST00000370765.6	-	23	6010	c.5903T>A	c.(5902-5904)aTa>aAa	p.I1968K	DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAAAAGTTATCTGTAACTC	0.433																																					p.I1968K		.											.	DST-523	0			c.T5903A						.						112	112	112					6																	56482929		2203	4300	6503	SO:0001583	missense	667	exon23			AAAGTTATCTGTA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5903T>A	6.37:g.56482929A>T	ENSP00000359801:p.Ile1968Lys	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	134	10	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588416	0.66105	.	.	ENSG00000151914	ENST00000370765	T	0.32753	1.44	5.49	5.49	0.81192	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.80722	D	1.000000	P	0.50066	0.931	P	0.49192	0.602	T	0.02093	-1.1215	7	0.05833	T	0.94	.	10.7774	0.46358	0.8584:0.0:0.0:0.1416	.	1968	Q03001-3	.	K	1968	ENSP00000359801:I1968K	ENSP00000359801:I1968K	I	-	2	0	DST	56590888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.169000	0.50809	2.083000	0.62718	0.455000	0.32223	ATA	.		0.433	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56482929	A	T	56482929	3	4	35	1	0	0	0	0	1	0	0	0	4797	449	16	5	14500	5	DST	6	56482929	Missense_Mutation	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	24547828	56482929	114632138	31	8541											
EEF1A1	1915	broad.mit.edu;bcgsc.ca	37	chr6	74228257	74228257	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttacttccgttgtaacgttGactggagcaaaggtgaccac	10	9	0	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:74228257G>A	ENST00000316292.9	-	5	1840	c.849C>T	c.(847-849)gtC>gtT	p.V283V	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.V283V|EEF1A1_ENST00000309268.6_Silent_p.V283V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	283					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						TTGTAACGTTGACTGGAGCAA	0.448											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.V283V		.											.	EEF1A1-226	0			c.C849T						.						39	38	38					6																	74228257		2079	4197	6276	SO:0001819	synonymous_variant	1915	exon6			AACGTTGACTGGA	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.849C>T	6.37:g.74228257G>A		Somatic	744	1	1151	WXS	Illumina GAIIx	Phase_I	745	17	NM_001402	1	7	6928	7053	117	P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	CCDS4980.1																																																																																			.		0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		A	74228257	G	A	74228257	2	1	35	1	0	0	0	0	0	0	0	1	4937	1277	45	3		3	EEF1A1	6	74228257	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	17745328	74228257	96886810	32	8542											
IMPG1	3617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	76633419	76633419	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgattttcagagtgatctgGcaacctacaaaagaaagcaa	8	7	2	4			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:76633419G>C	ENST00000369950.3	-	16	2437	c.2248C>G	c.(2248-2250)Cca>Gca	p.P750A	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGTGATCTGGCAACCTACAA	0.294																																					p.P750A	Pancreas(37;839 1141 2599 26037)	.											.	IMPG1-93	0			c.C2248G						.						119	107	111					6																	76633419		2202	4299	6501	SO:0001583	missense	3617	exon16			GATCTGGCAACCT	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2248C>G	6.37:g.76633419G>C	ENSP00000358966:p.Pro750Ala	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	26	10	NM_001563	0	0	0	0	0		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	3.878	-0.026481	0.07589	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20069	2.1;2.25	4.02	2.18	0.27775	.	0.509445	0.15998	N	0.234447	T	0.06096	0.0158	L	0.39898	1.24	0.80722	D	1	B	0.30406	0.278	B	0.24974	0.057	T	0.13176	-1.0519	10	0.52906	T	0.07	.	4.299	0.10915	0.1179:0.0:0.6544:0.2277	.	750	Q17R60	IMPG1_HUMAN	A	750;111	ENSP00000358966:P750A;ENSP00000358968:P111A	ENSP00000358966:P750A	P	-	1	0	IMPG1	76690139	0.784000	0.28713	0.976000	0.42696	0.140000	0.21249	0.187000	0.16998	0.994000	0.38892	-0.188000	0.12872	CCA	.		0.294	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		C	76633419	G	C	76633419	3	2	35	1	0	0	0	0	1	0	0	0	7755	1203	42	3	153	3	IMPG1	6	76633419	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	2405162	76633419	94481648	33	8543											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	35	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	22649957	99283376	71831691	34	8544											
TCP10L2	401285	broad.mit.edu	37	chr6	167592576	167592576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttcccaggccgccacGctgcaggagcagacggcagc	14	16	0	1	rs60976240	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr6:167592576G>A	ENST00000366832.2	+	6	866	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	245										endometrium(1)|kidney(2)|lung(3)	6						AGGCCGCCACGCTGCAGGAGC	0.582													G|||	3206	0.640176	0.7617	0.6614	5008	,	,		17779	0.5694		0.5984	False		,,,				2504	0.5767				p.T245T		.											.	.	0			c.G735A						.						23	28	27					6																	167592576		692	1591	2283	SO:0001819	synonymous_variant	401285	exon6			CGCCACGCTGCAG		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.735G>A	6.37:g.167592576G>A		Somatic	100	2		WXS	Illumina GAIIx	Phase_I	85	4	NM_001145121	0	0	0	0	0		Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																			G|0.425;A|0.575		0.582	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		A	167592576	G	A	167592576	2	1	35	1	0	0	0	0	0	0	0	1	15759	1074	38	1		1	TCP10L2	6	167592576	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	68309200	167592576	3522491	35	8545											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584372.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_002047	0	0	0	1	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	35	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		30634661	128504002	36	8546											
AMPH	273	bcgsc.ca	37	chr7	38431436	38431436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggctggtgcagaaggCgtgggctgagggtcctggat	18	9	0	2	rs1058656	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr7:38431436C>T	ENST00000356264.2	-	19	2006	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.T555T|AMPH_ENST00000325590.5_Silent_p.T555T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	597					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCAGAAGGCGTGGGCTGAG	0.612													C|||	896	0.178914	0.2322	0.2248	5008	,	,		13855	0.127		0.1759	False		,,,				2504	0.1309				p.T597T		.											.	AMPH-95	0			c.G1791A						.	C	,	948,3458	360.1+/-315.1	99,750,1354	52	49	50		1791,1665	-1.8	0	7	dbSNP_86	50	1860,6740	330.3+/-319.2	197,1466,2637	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	296,2216,3991	TT,TC,CC		21.6279,21.5161,21.59	,	597/696,555/654	38431436	2808,10198	2203	4300	6503	SO:0001819	synonymous_variant	273	exon19			AGAAGGCGTGGGC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1791G>A	7.37:g.38431436C>T		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_001635	0	0	1	1	0	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	395	0.18086080586080586	105	0.21341463414634146	74	0.20441988950276244	73	0.12762237762237763	143	0.18865435356200527	C	5.413	0.261367	0.10239	0.215161	0.216279	ENSG00000078053	ENST00000441628	.	.	.	5.34	-1.8	0.07907	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.29761	-1.0001	3	.	.	.	0.6258	3.0635	0.06207	0.106:0.3229:0.3573:0.2139	rs1058656;rs3199302;rs11553335;rs56947214	.	.	.	T	480	.	.	A	-	1	0	AMPH	38397961	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.475000	0.06599	-0.035000	0.13691	0.591000	0.81541	GCC	C|0.804;T|0.196		0.612	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		T	38431436	C	T	38431436	2	4	35	1	0	0	0	0	0	0	0	1	588	755	27	1		1	AMPH	7	38431436	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	7796775	38431436	120707227	37	8547											
ANKIB1	54467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	91974336	91974336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtatttgaagaccctgtGgatatgccctgtggacatga	11	8	1	3			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr7:91974336G>A	ENST00000265742.3	+	7	1417	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	347							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)			AAGACCCTGTGGATATGCCCT	0.393																																					p.V347V		.											.	ANKIB1-432	0			c.G1041A						.						358	331	339					7																	91974336		1899	4131	6030	SO:0001819	synonymous_variant	54467	exon7			CCCTGTGGATATG	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.1041G>A	7.37:g.91974336G>A		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	179	56	NM_019004	0	0	0	0	0	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	CCDS47639.1																																																																																			.		0.393	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			A	91974336	G	A	91974336	2	1	35	1	0	0	0	0	0	0	0	1	630	1335	47	3		3	ANKIB1	7	91974336	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	53542900	91974336	67164327	38	8548											
TTC26	79989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	138872237	138872237	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atattgggaaggcaaacgggGtgcctgtgtgggcattttcc	15	7	0	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr7:138872237G>C	ENST00000464848.1	+	17	1585	c.1505G>C	c.(1504-1506)gGt>gCt	p.G502A	TTC26_ENST00000478836.2_Missense_Mutation_p.G395A|TTC26_ENST00000495038.1_Missense_Mutation_p.G371A|TTC26_ENST00000343187.4_Missense_Mutation_p.G471A|TTC26_ENST00000430935.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	502					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						GGCAAACGGGGTGCCTGTGTG	0.453																																					p.G502A		.											.	TTC26-91	0			c.G1505C						.						155	152	153					7																	138872237		2203	4300	6503	SO:0001583	missense	79989	exon17			AACGGGGTGCCTG	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.1505G>C	7.37:g.138872237G>C	ENSP00000419279:p.Gly502Ala	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	154	48	NM_024926	0	0	0	1	1	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965574	0.92855	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.60299	0.23;0.31;0.2;0.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.81820	-0.0757	10	0.48119	T	0.1	.	17.451	0.87592	0.0:0.0:1.0:0.0	.	371;471;502	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	A	371;395;502;471	ENSP00000418788:G371A;ENSP00000419178:G395A;ENSP00000419279:G502A;ENSP00000339135:G471A	ENSP00000339135:G471A	G	+	2	0	TTC26	138522777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.521000	0.98029	2.403000	0.81681	0.591000	0.81541	GGT	.		0.453	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		C	138872237	G	C	138872237	3	2	35	1	0	0	0	0	1	0	0	0	16743	1261	44	3	1571	3	TTC26	7	138872237	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	46897901	138872237	20266426	39	8549											
MSR1	4481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	15967636	15967636	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttcagaatgtgaacaGgctcttgtcccccattgccg	9	13	3	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr8:15967636G>C	ENST00000262101.5	-	10	1435	c.1314C>G	c.(1312-1314)gcC>gcG	p.A438A	MSR1_ENST00000350896.3_Silent_p.A375A|MSR1_ENST00000355282.2_Silent_p.A375A|MSR1_ENST00000445506.2_Silent_p.A456A			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	438	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGAACAGGCTCTTGTCC	0.368																																					p.A438A		.											.	MSR1-91	0			c.C1314G						.						96	96	96					8																	15967636		2203	4300	6503	SO:0001819	synonymous_variant	4481	exon10			TGAACAGGCTCTT	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1314C>G	8.37:g.15967636G>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	81	25	NM_138715	0	0	1	1	0	D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	CCDS5995.1																																																																																			.		0.368	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			C	15967636	G	C	15967636	2	2	35	1	0	0	0	0	0	0	0	1	9924	987	35	3		3	MSR1	8	15967636	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		15967636	130396386	40	8550											
ASAP1	50807	broad.mit.edu	37	chr8	131172197	131172197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctgtatcctccttgcCggctctgagaatcctaggaa	10	12	1	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr8:131172197C>T	ENST00000518721.1	-	12	1150	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	ASAP1_ENST00000357668.1_Missense_Mutation_p.R308Q	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	308					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						TCCTCCTTGCCGGCTCTGAGA	0.438																																					p.R308Q		.											.	ASAP1-95	0			c.G923A						.						144	136	139					8																	131172197		2203	4300	6503	SO:0001583	missense	50807	exon12			CCTTGCCGGCTCT	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.923G>A	8.37:g.131172197C>T	ENSP00000429900:p.Arg308Gln	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	63	3	NM_018482	0	0	0	0	0	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438430	0.62955	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	T;T;T	0.46063	3.33;3.33;0.88	5.74	5.74	0.90152	.	0.052994	0.85682	D	0.000000	T	0.29190	0.0726	L	0.34521	1.04	0.49687	D	0.999816	B;B;B	0.33494	0.414;0.414;0.335	B;B;B	0.24974	0.038;0.038;0.057	T	0.06267	-1.0836	10	0.38643	T	0.18	.	11.1199	0.48284	0.0:0.9162:0.0:0.0838	.	308;308;311	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	Q	311;308;308;278	ENSP00000350297:R308Q;ENSP00000429900:R308Q;ENSP00000430588:R278Q	ENSP00000344591:R311Q	R	-	2	0	ASAP1	131241379	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.820000	0.48057	2.873000	0.98535	0.563000	0.77884	CGG	.		0.438	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		T	131172197	C	T	131172197	3	4	35	1	0	0	0	0	1	0	0	0	1011	652	23	1	2542	1	ASAP1	8	131172197	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	115204561	131172197	15191825	41	8551											
ALG2	85365	ucsc.edu	37	chr9	101980798	101980798	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcagcaggaattttttCcccttggggactaggtcatc	12	9	1	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr9:101980798C>T	ENST00000476832.1	-	2	730	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ALG2_ENST00000319033.6_Silent_p.G130G	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGAATTTTTTCCCCTTGGGGA	0.473																																					p.G223G		.											.	ALG2-92	0			c.G669A						.						107	109	108					9																	101980798		2203	4300	6503	SO:0001819	synonymous_variant	85365	exon2			TTTTTTCCCCTTG	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.669G>A	9.37:g.101980798C>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	110	1	NM_033087	0	0	18	19	1	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	CCDS6739.1																																																																																			.		0.473	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		T	101980798	C	T	101980798	2	4	35	1	0	0	0	0	0	0	0	1	519	842	30	3		3	ALG2	9	101980798	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		101980798	39232633	42	8552											
CCDC109A	90550	hgsc.bcm.edu	37	chr10	74451963	74451963	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctcctctcggggcggCggcggcgggggcgccggcgg	20	16	2	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr10:74451963C>G	ENST00000373053.3	+	1	75	c.54C>G	c.(52-54)ggC>ggG	p.G18G	MCU_ENST00000536019.1_5'Flank|MCU_ENST00000357157.6_Silent_p.G18G	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	18					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CTCGGggcggcggcggcgggg	0.756																																					p.G18G		.											.	MCU-90	0			c.C54G						.						3	3	3					10																	74451963		1598	3518	5116	SO:0001819	synonymous_variant	90550	exon1			GGGCGGCGGCGGC	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.54C>G	10.37:g.74451963C>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	14	6	NM_001270679	0	0	0	0	0	B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	CCDS7317.1																																																																																			.		0.756	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		G	74451963	C	G	74451963	2	3	35	1	0	0	0	0	0	0	0	1	2751	755	27	2		2	CCDC109A	10	74451963	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		74451963	61082784	43	8553											
MAT1A	4143	bcgsc.ca	37	chr10	82033594	82033594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcttccgaaatggccGtagcatgctgtcttctggta	10	11	3	0	rs2993763	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr10:82033594G>A	ENST00000372213.3	-	9	1391	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	377					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CGAAATGGCCGTAGCATGCTG	0.552													G|||	2939	0.586861	0.7874	0.5187	5008	,	,		17763	0.4861		0.4245	False		,,,				2504	0.635				p.Y377Y		.											.	MAT1A-90	0			c.C1131T						.	G		3186,1220	707.5+/-407.5	1155,876,172	189	176	180		1131	-8.9	0.5	10	dbSNP_101	180	3810,4790	539.6+/-383.6	817,2176,1307	no	coding-synonymous	MAT1A	NM_000429.2		1972,3052,1479	AA,AG,GG		44.3023,27.6895,46.2094		377/396	82033594	6996,6010	2203	4300	6503	SO:0001819	synonymous_variant	4143	exon9			ATGGCCGTAGCAT		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1131C>T	10.37:g.82033594G>A		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	228	8	NM_000429	0	0	0	0	0	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			G|0.458;A|0.542		0.552	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		A	82033594	G	A	82033594	2	1	35	1	0	0	0	0	0	0	0	1	9367	1140	40	1		1	MAT1A	10	82033594	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	7581631	82033594	53501153	44	8554											
GPAM	57678	broad.mit.edu	37	chr10	113924347	113924347	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagagcagacaccggtttctGactttggctttctaaatatt	8	8	2	3	rs144558318		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr10:113924347G>A	ENST00000348367.4	-	13	1440	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.Q415*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.Q415*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	415					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACCGGTTTCTGACTTTGGCTT	0.368																																					p.Q415X	Ovarian(161;1017 2606 18293 52943)	.											.	GPAM-92	0			c.C1243T						.						64	67	66					10																	113924347		2203	4300	6503	SO:0001587	stop_gained	57678	exon13			GTTTCTGACTTTG	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1243C>T	10.37:g.113924347G>A	ENSP00000265276:p.Gln415*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_001244949	0	0	0	0	0	Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	39	7.474190	0.98306	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.25	5.25	0.73442	.	0.244651	0.42420	D	0.000704	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.4255	17.0238	0.86440	0.0:0.0:1.0:0.0	.	.	.	.	X	415	.	ENSP00000265276:Q415X	Q	-	1	0	GPAM	113914337	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.342000	0.65970	2.432000	0.82394	0.643000	0.83706	CAG	G|1.000;T|0.000		0.368	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113924347	G	A	113924347	4	1	35	1	0	0	0	0	0	1	0	0	6614	1299	45	3	1283	3	GPAM	10	113924347	Nonsense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	31890753	113924347	21610400	45	8555											
FANK1	92565	hgsc.bcm.edu	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	16	13	0	1	rs202109621		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X		.											.	FANK1-91	0			c.C10T						.						8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	85	9	NM_145235	0	0	0	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG	.		0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		T	127585221	C	T	127585221	4	4	35	1	0	0	0	0	0	1	0	0	5694	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	13660874	127585221	7949526	46	8556											
SOX6	55553	broad.mit.edu	37	chr11	15994582	15994582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgtcatctgaggcgatgGtgtggtagttgccatagtga	15	5	2	3			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr11:15994582G>T	ENST00000352083.6	-	16	2337	c.2260C>A	c.(2260-2262)Cca>Aca	p.P754T	SOX6_ENST00000527619.1_Missense_Mutation_p.P730T|SOX6_ENST00000316399.6_Missense_Mutation_p.P734T|SOX6_ENST00000528252.1_Missense_Mutation_p.P727T|SOX6_ENST00000396356.3_Missense_Mutation_p.P734T|SOX6_ENST00000528429.1_Missense_Mutation_p.P754T			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	754					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						TGAGGCGATGGTGTGGTAGTT	0.512																																					p.P767T		.											.	SOX6-93	0			c.C2299A						.						118	115	116					11																	15994582		2200	4294	6494	SO:0001583	missense	55553	exon16			GCGATGGTGTGGT	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.2260C>A	11.37:g.15994582G>T	ENSP00000339876:p.Pro754Thr	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_001145819	0	0	0	0	0	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	G	15.23	2.772956	0.49680	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.75615	2.305	0.80722	D	1	P;D;D	0.89917	0.488;0.991;1.0	B;P;D	0.83275	0.209;0.889;0.996	T	0.75439	-0.3317	10	0.66056	D	0.02	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	734;754;730	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	T	734;754;734;727;730;754	ENSP00000324948:P734T;ENSP00000339876:P754T;ENSP00000379644:P734T;ENSP00000432134:P727T;ENSP00000434455:P730T;ENSP00000433233:P754T	ENSP00000324948:P734T	P	-	1	0	SOX6	15951158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.773000	0.95371	0.655000	0.94253	CCA	.		0.512	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		T	15994582	G	T	15994582	3	4	35	1	0	0	0	0	1	0	0	0	15000	1261	44	3	230	3	SOX6	11	15994582	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		15994582	119011934	47	8557											
TMEM134	80194	broad.mit.edu	37	chr11	67235051	67235051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgcggatggaagttcGgctggaatccctgccaggac	16	10	0	0	rs143199541	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr11:67235051G>A	ENST00000308022.2	-	3	291	c.250C>T	c.(250-252)Cga>Tga	p.R84*	TMEM134_ENST00000452789.2_Intron|TMEM134_ENST00000541059.1_5'Flank|TMEM134_ENST00000393877.3_Nonsense_Mutation_p.R84*	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	84						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						ATGGAAGTTCGGCTGGAATCC	0.637													G|||	14	0.00279553	8e-04	0.0043	5008	,	,		15638	0		0.007	False		,,,				2504	0.0031				p.R84X		.											.	TMEM134-90	0			c.C250T						.	G	stop/ARG,,stop/ARG	5,4395	8.1+/-20.4	0,5,2195	49	46	47		250,,250	2.6	0	11	dbSNP_134	47	52,8538	31.7+/-84.0	0,52,4243	yes	stop-gained,intron,stop-gained	TMEM134	NM_001078650.1,NM_001078651.1,NM_025124.2	,,	0,57,6438	AA,AG,GG		0.6054,0.1136,0.4388	,,	84/181,,84/196	67235051	57,12933	2200	4295	6495	SO:0001587	stop_gained	80194	exon3			AAGTTCGGCTGGA	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.250C>T	11.37:g.67235051G>A	ENSP00000312615:p.Arg84*	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	171	4	NM_025124	0	0	0	0	0	Q08AK4|Q6PJN3	Nonsense_Mutation	SNP	ENST00000308022.2	37	CCDS8167.1	9	0.004120879120879121	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	5	0.006596306068601583	G	15.81	2.943198	0.53079	0.001136	0.006054	ENSG00000172663	ENST00000393877;ENST00000308022	.	.	.	4.47	2.58	0.30949	.	1.527710	0.04580	N	0.394831	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8826	0.24181	0.2201:0.0:0.7799:0.0	.	.	.	.	X	84	.	ENSP00000312615:R84X	R	-	1	2	TMEM134	66991627	0.605000	0.26941	0.008000	0.14137	0.050000	0.14768	2.426000	0.44731	0.354000	0.24105	0.289000	0.19496	CGA	G|0.997;A|0.003		0.637	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		A	67235051	G	A	67235051	4	1	35	1	0	0	0	0	0	1	0	0	16097	1124	39	1	357	1	TMEM134	11	67235051	Nonsense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	51240469	67235051	67771465	48	8558											
KRTAP5-10	387273	bcgsc.ca	37	chr11	71276951	71276951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggggggctgtggttcTtgtgggggctccaagggggg	21	7	1	0	rs76397897	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr11:71276951T>C	ENST00000398531.1	+	1	343	c.318T>C	c.(316-318)tcT>tcC	p.S106S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	106	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGTTCTTGTGGGGGCT	0.672																																					p.S106S		.											.	KRTAP5-10-91	0			c.T318C						.						39	60	53					11																	71276951		2166	4268	6434	SO:0001819	synonymous_variant	387273	exon1			TGGTTCTTGTGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.318T>C	11.37:g.71276951T>C		Somatic	47	3		WXS	Illumina GAIIx	Phase_I	72	14	NM_001012710	0	0	0	0	0	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																			T|0.991;C|0.009		0.672	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			C	71276951	T	C	71276951	2	2	35	1	0	0	0	0	0	0	0	1	8587	1596	56	4		4	KRTAP5-10	11	71276951	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	4041900	71276951	63729565	49	8559											
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	88386562	88386562	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcacatcatacctgtcagcCcagccatcactgtggggaaa	9	13	4	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr11:88386562C>G	ENST00000305447.4	-	3	1070	c.921G>C	c.(919-921)tgG>tgC	p.W307C	GRM5_ENST00000393297.1_Missense_Mutation_p.W307C|GRM5_ENST00000418177.2_Missense_Mutation_p.W307C|GRM5_ENST00000305432.5_Missense_Mutation_p.W307C|GRM5_ENST00000455756.2_Missense_Mutation_p.W307C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	307					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)	ACCTGTCAGCCCAGCCATCAC	0.418																																					p.W307C		.											.	GRM5-949	0			c.G921C						.						65	65	65					11																	88386562		2201	4299	6500	SO:0001583	missense	2915	exon4			GTCAGCCCAGCCA	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.921G>C	11.37:g.88386562C>G	ENSP00000306138:p.Trp307Cys	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	29	12	NM_000842	0	0	0	0	0	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161589	0.78226	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94369	0.7594	9	.	.	.	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	307;307	P41594-2;P41594	.;GRM5_HUMAN	C	307	ENSP00000402912:W307C;ENSP00000405690:W307C;ENSP00000305905:W307C;ENSP00000306138:W307C;ENSP00000376975:W307C	.	W	-	3	0	GRM5	88026210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.789000	0.95967	0.591000	0.81541	TGG	.		0.418	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		G	88386562	C	G	88386562	3	3	35	1	0	0	0	0	1	0	0	0	6827	624	22	3	2745	3	GRM5	11	88386562	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	17109611	88386562	46619954	50	8560											
NCAPD2	9918	bcgsc.ca	37	chr12	6631169	6631169	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attacagaggccattggcatCatcagcaagatgatgtatga	10	7	2	4	rs917634	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:6631169C>A	ENST00000315579.5	+	15	2719	c.1920C>A	c.(1918-1920)atC>atA	p.I640I	NCAPD2_ENST00000545962.1_Silent_p.I595I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	640					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCATTGGCATCATCAGCAAGA	0.423													C|||	2662	0.53155	0.5961	0.6225	5008	,	,		17799	0.5704		0.4742	False		,,,				2504	0.3988				p.I640I		.											.	NCAPD2-660	0			c.C1920A						.	C		2566,1840	635.7+/-396.4	758,1050,395	82	83	83		1920	5	1	12	dbSNP_86	83	3915,4685	547.1+/-385.1	903,2109,1288	no	coding-synonymous	NCAPD2	NM_014865.3		1661,3159,1683	AA,AC,CC		45.5233,41.7612,49.8308		640/1402	6631169	6481,6525	2203	4300	6503	SO:0001819	synonymous_variant	9918	exon15			TGGCATCATCAGC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1920C>A	12.37:g.6631169C>A		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	105	5	NM_014865	0	0	2	2	0	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																			C|0.475;A|0.525		0.423	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6631169	C	A	6631169	2	1	35	1	0	0	0	0	0	0	0	1	10244	816	29	3		3	NCAPD2	12	6631169	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		6631169	127220726	51	8561											
TAS2R30	259293	bcgsc.ca	37	chr12	11286164	11286164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtcacagtttgcaaaGcttttatgtggaccttggtg	13	6	1	0	rs200661425		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:11286164G>A	ENST00000539585.1	-	1	1079	c.680C>T	c.(679-681)gCt>gTt	p.A227V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A227V(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGTTTGCAAAGCTTTTATGTG	0.418																																					p.A227V		.											.	.	2	Substitution - Missense(2)	autonomic_ganglia(1)|skin(1)	c.C680T						.						198	208	205					12																	11286164		2203	4300	6503	SO:0001583	missense	259293	exon1			TGCAAAGCTTTTA	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.680C>T	12.37:g.11286164G>A	ENSP00000444736:p.Ala227Val	Somatic	228	3		WXS	Illumina GAIIx	Phase_I	271	23	NM_001097643	0	0	0	0	0	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	13.13	2.144355	0.37825	.	.	ENSG00000256188	ENST00000539585	T	0.01422	4.91	2.6	2.6	0.31112	.	.	.	.	.	T	0.03651	0.0104	M	0.70595	2.14	0.09310	N	1	P	0.40250	0.709	P	0.46975	0.533	T	0.27938	-1.0059	9	0.46703	T	0.11	.	8.7017	0.34329	0.0:0.0:1.0:0.0	.	227	P59541	T2R30_HUMAN	V	227	ENSP00000444736:A227V	ENSP00000444736:A227V	A	-	2	0	TAS2R30	11177431	0.677000	0.27577	0.024000	0.17045	0.426000	0.31534	2.697000	0.47060	1.454000	0.47793	0.313000	0.20887	GCT	.		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		A	11286164	G	A	11286164	3	1	35	1	0	0	0	0	1	0	0	0	15620	971	34	3	283	3	TAS2R30	12	11286164	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	4654995	11286164	122565731	52	8562											
APOLD1	81575	hgsc.bcm.edu	37	chr12	12939892	12939892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgggcccgacgcgctgcGgcgcttccagggactgctgc	16	15	0	0	rs4763876	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:12939892G>A	ENST00000326765.6	+	2	216	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	APOLD1_ENST00000356591.4_Missense_Mutation_p.R18Q	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	49	Arg-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		GACGCGCTGCGGCGCTTCCAG	0.771													G|||	290	0.0579073	0.0038	0.1527	5008	,	,		11940	0.0278		0.0736	False		,,,				2504	0.0787				p.R49Q		.											.	APOLD1-91	0			c.G146A						.	G	GLN/ARG,GLN/ARG	17,1923		1,15,954	1	1	1		146,53	4.9	1	12	dbSNP_111	1	243,4437		1,241,2098	no	missense,missense	APOLD1	NM_001130415.1,NM_030817.2	43,43	2,256,3052	AA,AG,GG		5.1923,0.8763,3.9275	probably-damaging,probably-damaging	49/280,18/249	12939892	260,6360	970	2340	3310	SO:0001583	missense	81575	exon2			CGCTGCGGCGCTT	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.146G>A	12.37:g.12939892G>A	ENSP00000324277:p.Arg49Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_001130415	0	0	0	0	0	Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	37	CCDS44833.1	125	0.05723443223443223	3	0.006097560975609756	45	0.12430939226519337	16	0.027972027972027972	61	0.08047493403693931	G	21.6	4.179961	0.78564	0.008763	0.051923	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.01347	4.99;4.99	4.94	4.94	0.65067	.	0.080970	0.50627	U	0.000113	T	0.00039	0.0001	L	0.32530	0.975	0.34201	P	0.32682599999999995	P;P	0.47910	0.82;0.902	B;B	0.42959	0.21;0.403	T	0.55829	-0.8079	9	0.56958	D	0.05	-17.5552	9.1508	0.36962	0.1061:0.0:0.8939:0.0	rs4763876	18;49	A0AVN6;Q96LR9	.;APLD1_HUMAN	Q	49;18	ENSP00000324277:R49Q;ENSP00000348998:R18Q	ENSP00000324277:R49Q	R	+	2	0	APOLD1	12831159	0.996000	0.38824	0.995000	0.50966	0.635000	0.38103	2.225000	0.42954	2.454000	0.82982	0.579000	0.79373	CGG	G|0.943;A|0.057		0.771	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		A	12939892	G	A	12939892	3	1	35	1	0	0	0	0	1	0	0	0	811	1116	39	1	159	1	APOLD1	12	12939892	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	1653728	12939892	120912003	53	8563											
KRT7	3855	hgsc.bcm.edu	37	chr12	52627215	52627215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggcctcggcgcctcAcggccgcgcgtggccgtgcg	15	18	2	0	rs7308888	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:52627215A>G	ENST00000331817.5	+	1	318	c.135A>G	c.(133-135)tcA>tcG	p.S45S		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	45	Head.				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)	TCGGCGCCTCACGGCCGCGCG	0.771													g|||	4451	0.888778	0.9781	0.8473	5008	,	,		10346	0.9048		0.8191	False		,,,				2504	0.8528				p.S45S		.											.	KRT7-90	0			c.A135G						.			3161,173		1496,169,2	4	6	5		135	-5.3	0	12	dbSNP_116	5	5763,1251		2369,1025,113	no	coding-synonymous	KRT7	NM_005556.3		3865,1194,115	GG,GA,AA		17.8358,5.189,13.7611		45/470	52627215	8924,1424	1667	3507	5174	SO:0001819	synonymous_variant	3855	exon1			CGCCTCACGGCCG		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.135A>G	12.37:g.52627215A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005556	0	0	0	0	0	Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	CCDS8822.1																																																																																			A|0.133;G|0.867		0.771	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		G	52627215	A	G	52627215	2	3	35	1	0	0	0	0	0	0	0	1	8510	146	6	4		4	KRT7	12	52627215	Silent	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	39687323	52627215	81224680	54	8564											
KRT2	3849	hgsc.bcm.edu	37	chr12	53045632	53045633	+	In_Frame_Ins	INS	-	-	GCCTCCAAAGCCGCTGCC													ccacctccaaagctgctgccINSgcctccaaaaccacctcctc					rs182369139		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:53045632_53045633insGCCTCCAAAGCCGCTGCC	ENST00000309680.3	-	1	315_316	c.294_295insGGCAGCGGCTTTGGAGGC	c.(292-297)ggcggc>ggcGGCAGCGGCTTTGGAGGCggc	p.98_99GG>GGSGFGGG		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	98	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		aagctgctgccgcctccaaaac	0.624																																					p.G99delinsGSGFGGG		.											.	KRT2-92	0			c.295_296insGGCAGCGGCTTTGGAGGC						.																																			SO:0001652	inframe_insertion	3849	exon1			TGCTGCCGCCTCC		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.294_295insGGCAGCGGCTTTGGAGGC	12.37:g.53045632_53045633insGCCTCCAAAGCCGCTGCC	ENSP00000310861:p.Gly98_Gly99insGlySerGlyPheGlyGly	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	549	190	NM_000423	0	0	0	0	0	Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	CCDS8835.1																																																																																			.		0.624	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		GCCTCCAAAGCCGCTGCC	53045633	-	GCCTCCAAAGCCGCTGCC	53045632	7	5	35	1	0	1	1	0	0	0	0	0	8484	652	23	0	1660	0	KRT2	12	53045632	In_Frame_Ins	INS	-	TCGA-OR-A5KT-01A-11D-A29I-10	418417	53045632	80806263	55	8565											
TMTC2	160335	broad.mit.edu;bcgsc.ca	37	chr12	83290354	83290354	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttatggactcaagactgCgatcaggaatggagactggc	12	7	2	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:83290354C>G	ENST00000321196.3	+	3	2119	c.1412C>G	c.(1411-1413)gCg>gGg	p.A471G	TMTC2_ENST00000548305.1_Missense_Mutation_p.A471G|TMTC2_ENST00000549919.1_Missense_Mutation_p.A465G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471					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						CTCAAGACTGCGATCAGGAAT	0.388																																					p.A471G		.											.	TMTC2-92	0			c.C1412G						.						69	65	66					12																	83290354		2203	4300	6503	SO:0001583	missense	160335	exon3			AGACTGCGATCAG	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.1412C>G	12.37:g.83290354C>G	ENSP00000322300:p.Ala471Gly	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	182	9	NM_152588	0	0	0	0	0	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797419	0.50208	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61742	0.72;0.08;0.62	5.86	4.06	0.47325	.	0.050788	0.85682	D	0.000000	T	0.47967	0.1474	L	0.46157	1.445	0.35785	D	0.82191	P;B;P	0.36660	0.564;0.137;0.479	B;B;B	0.37346	0.118;0.247;0.159	T	0.55829	-0.8079	10	0.45353	T	0.12	-3.4404	7.1738	0.25732	0.0:0.6373:0.0:0.3627	.	471;226;471	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	G	471;471;465;226	ENSP00000322300:A471G;ENSP00000448292:A471G;ENSP00000447609:A465G	ENSP00000322300:A471G	A	+	2	0	TMTC2	81814485	0.992000	0.36948	0.184000	0.23157	0.943000	0.58893	2.528000	0.45624	0.829000	0.34733	0.650000	0.86243	GCG	.		0.388	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83290354	C	G	83290354	3	3	35	1	0	0	0	0	1	0	0	0	16308	768	27	2	1422	2	TMTC2	12	83290354	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	30244722	83290354	50561541	56	8566											
DAO	1610	broad.mit.edu	37	chr12	109293174	109293174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagaattattggtgaaCgaactggcttccggccagta	11	8	0	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:109293174C>T	ENST00000228476.3	+	10	1039	c.835C>T	c.(835-837)Cga>Tga	p.R279*	DAO_ENST00000551281.1_Nonsense_Mutation_p.R213*	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	279				R -> A (in Ref. 1; CAA31614). {ECO:0000305}.	cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TATTGGTGAACGAACTGGCTT	0.458																																					p.R279X		.											.	DAO-92	0			c.C835T						.						37	33	35					12																	109293174		2203	4300	6503	SO:0001587	stop_gained	1610	exon10			GGTGAACGAACTG	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.835C>T	12.37:g.109293174C>T	ENSP00000228476:p.Arg279*	Somatic	79	1		WXS	Illumina GAIIx	Phase_I	68	5	NM_001917	0	0	0	0	0	B2R7I5|Q16758|Q8N6R2	Nonsense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	c	12.40	1.925564	0.34002	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	.	.	.	5.03	2.48	0.30137	.	0.654660	0.18043	N	0.153528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-24.7005	7.3756	0.26827	0.0:0.1939:0.0:0.8061	.	.	.	.	X	213;279;156	.	ENSP00000228476:R279X	R	+	1	2	DAO	107817303	0.467000	0.25831	0.005000	0.12908	0.002000	0.02628	1.577000	0.36515	0.264000	0.21851	-0.507000	0.04495	CGA	.		0.458	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			T	109293174	C	T	109293174	4	4	35	1	0	0	0	0	0	1	0	0	4240	528	19	1	869	1	DAO	12	109293174	Nonsense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	26002820	109293174	24558721	57	8567											
ATXN2	6311	hgsc.bcm.edu	37	chr12	112036797	112036797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	14	12	0	0	rs4098854	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_Silent_p.Q174Q|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000608853.1_Silent_p.Q14Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1	1	1					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_002973	0	0	49	50	1	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036797	C	T	112036797	2	4	35	1	0	0	0	0	0	0	0	1	1212	796	28	3		3	ATXN2	12	112036797	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	2743623	112036797	21815098	58	8568											
COG3	83548	bcgsc.ca	37	chr13	46103935	46103935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatttccagcaaaggtcaAtgaccttgcggcaactgcat	8	10	1	1	rs2274285	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr13:46103935A>G	ENST00000349995.5	+	21	2352	c.2240A>G	c.(2239-2241)aAt>aGt	p.N747S		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	747			N -> S (in dbSNP:rs2274285). {ECO:0000269|PubMed:11929878}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GCAAAGGTCAATGACCTTGCG	0.338													A|||	3415	0.681909	0.4357	0.8156	5008	,	,		18459	0.7798		0.7356	False		,,,				2504	0.7638				p.N747S	Ovarian(150;1048 1859 18083 21577 42700)	.											.	COG3-154	0			c.A2240G						.	A	SER/ASN	2181,2225	584.3+/-386.0	550,1081,572	85	77	80		2240	-1.3	0	13	dbSNP_100	80	6506,2094	715.9+/-406.1	2476,1554,270	yes	missense	COG3	NM_031431.3	46	3026,2635,842	GG,GA,AA		24.3488,49.5007,33.2078	benign	747/829	46103935	8687,4319	2203	4300	6503	SO:0001583	missense	83548	exon21			AGGTCAATGACCT	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.2240A>G	13.37:g.46103935A>G	ENSP00000258654:p.Asn747Ser	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_031431	0	0	0	0	0	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	CCDS9398.1	1534	0.7023809523809523	229	0.4654471544715447	287	0.7928176795580111	463	0.8094405594405595	555	0.7321899736147758	A	0.013	-1.617769	0.00828	0.495007	0.756512	ENSG00000136152	ENST00000349995	T	0.43688	0.94	5.58	-1.32	0.09201	.	0.352884	0.37809	N	0.001926	T	0.00012	0.0000	L	0.46157	1.445	0.42629	P	0.006630000000000025	B	0.02656	0.0	B	0.01281	0.0	T	0.43032	-0.9416	9	0.07482	T	0.82	0.9648	6.3004	0.21109	0.6382:0.1591:0.2027:0.0	rs2274285;rs52794786;rs58320510;rs2274285	747	Q96JB2	COG3_HUMAN	S	747	ENSP00000258654:N747S	ENSP00000258654:N747S	N	+	2	0	COG3	45001936	1.000000	0.71417	0.010000	0.14722	0.560000	0.35617	2.427000	0.44740	-0.165000	0.10908	-1.022000	0.02435	AAT	A|0.326;G|0.674		0.338	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			G	46103935	A	G	46103935	3	3	35	1	0	0	0	0	1	0	0	0	3666	101	4	4	2322	4	COG3	13	46103935	Missense_Mutation	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10		46103935	69065943	59	8569											
OR10G3	26533	bcgsc.ca	37	chr14	22038525	22038525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcataggccattagGgtgtagaggaagcactgggt	14	7	1	1	rs11626693	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr14:22038525G>T	ENST00000303532.1	-	1	350	c.351C>A	c.(349-351)acC>acA	p.T117T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGCCATTAGGGTGTAGAGGA	0.527													G|||	1822	0.363818	0.5371	0.2277	5008	,	,		21719	0.2966		0.3072	False		,,,				2504	0.3538				p.T117T		.											.	OR10G3-68	0			c.C351A						.	G		2158,2248	583.6+/-385.9	549,1060,594	58	56	56		351	-3.3	0.1	14	dbSNP_120	56	2429,6171	401.1+/-347.0	347,1735,2218	no	coding-synonymous	OR10G3	NM_001005465.1		896,2795,2812	TT,TG,GG		28.2442,48.9787,35.2683		117/314	22038525	4587,8419	2203	4300	6503	SO:0001819	synonymous_variant	26533	exon1			CATTAGGGTGTAG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.351C>A	14.37:g.22038525G>T		Somatic	297	1		WXS	Illumina GAIIx	Phase_I	284	8	NM_001005465	0	0	0	0	0	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																			G|0.656;T|0.344		0.527	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			T	22038525	G	T	22038525	2	4	35	1	0	0	0	0	0	0	0	1	10939	1219	43	3		3	OR10G3	14	22038525	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		22038525	85311015	60	8570											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81209499	81209499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactgcaactcagattccTtgttttcagtcaaattcctg	6	11	3	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr14:81209499T>C	ENST00000555265.1	-	19	3101	c.2726A>G	c.(2725-2727)aAg>aGg	p.K909R	CEP128_ENST00000281129.3_Missense_Mutation_p.K909R			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	909						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCAGATTCCTTGTTTTCAGT	0.433																																					p.K909R		.											.	CEP128-91	0			c.A2726G						.						115	103	107					14																	81209499		2203	4300	6503	SO:0001583	missense	145508	exon18			GATTCCTTGTTTT	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2726A>G	14.37:g.81209499T>C	ENSP00000451162:p.Lys909Arg	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	58	17	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	6.064	0.380085	0.11466	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.32272	1.46;1.46	5.34	4.17	0.49024	.	0.181870	0.39759	N	0.001272	T	0.20495	0.0493	L	0.40543	1.245	0.80722	D	1	B	0.21606	0.058	B	0.23574	0.047	T	0.07158	-1.0787	10	0.14656	T	0.56	.	5.745	0.18114	0.0:0.1479:0.15:0.7022	.	909	Q6ZU80	CE128_HUMAN	R	909;909;909;110	ENSP00000281129:K909R;ENSP00000451162:K909R	ENSP00000281129:K909R	K	-	2	0	CEP128	80279252	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	1.689000	0.37700	2.150000	0.67090	0.459000	0.35465	AAG	.		0.433	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		C	81209499	T	C	81209499	3	2	35	1	0	0	0	0	1	0	0	0	1754	1609	56	4	586	4	C14orf145	14	81209499	Missense_Mutation	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	59170974	81209499	26140041	61	8571											
TMOD2	29767	hgsc.bcm.edu;bcgsc.ca	37	chr15	52073255	52073255	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttagatgttgtcaaaggtGaaaaagtaaagccagtattt	9	3	1	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr15:52073255G>T	ENST00000249700.4	+	6	729	c.508G>T	c.(508-510)Gaa>Taa	p.E170*	TMOD2_ENST00000539962.2_Nonsense_Mutation_p.E126*|TMOD2_ENST00000435126.2_Nonsense_Mutation_p.E170*	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	170					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)		TGTCAAAGGTGAAAAAGTAAA	0.363																																					p.E170X		.											.	TMOD2-92	0			c.G508T						.						90	83	85					15																	52073255		2195	4293	6488	SO:0001587	stop_gained	29767	exon6			AAAGGTGAAAAAG	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.508G>T	15.37:g.52073255G>T	ENSP00000249700:p.Glu170*	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_014548	0	0	0	0	0	B4DEW6	Nonsense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	39	7.909071	0.98557	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-23.1682	18.8829	0.92364	0.0:0.0:1.0:0.0	.	.	.	.	X	170;170;126	.	ENSP00000249700:E170X	E	+	1	0	TMOD2	49860547	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.137000	0.94496	2.705000	0.92388	0.650000	0.86243	GAA	.		0.363	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			T	52073255	G	T	52073255	4	4	35	1	0	0	0	0	0	1	0	0	16281	1291	45	3	526	3	TMOD2	15	52073255	Nonsense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		52073255	50458137	62	8572											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	35	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	13296140	65369395	37161997	63	8573											
LINS1	55180	hgsc.bcm.edu	37	chr15	101110302	101110302	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttccctgagtcaagCtttcagtggcttcacatcct	6	12	4	1	rs2411837	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr15:101110302C>G	ENST00000314742.8	-	7	1637	c.1415G>C	c.(1414-1416)aGc>aCc	p.S472T	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	472			S -> T (in dbSNP:rs2411837).					p.S472T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CTGAGTCAAGCTTTCAGTGGC	0.338													C|||	1276	0.254792	0.115	0.2219	5008	,	,		17645	0.2252		0.4215	False		,,,				2504	0.3262				p.S472T		.											.	LINS-92	1	Substitution - Missense(1)	stomach(1)	c.G1415C						.	C	THR/SER	691,3715	263.8+/-265.7	61,569,1573	56	55	56		1415	1.5	0	15	dbSNP_100	56	3716,4882	488.7+/-372.4	815,2086,1398	yes	missense	LINS	NM_001040616.2	58	876,2655,2971	GG,GC,CC		43.2194,15.6832,33.8896	benign	472/758	101110302	4407,8597	2203	4299	6502	SO:0001583	missense	55180	exon7			GTCAAGCTTTCAG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1415G>C	15.37:g.101110302C>G	ENSP00000318423:p.Ser472Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001040616	0	0	0	3	3	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	616	0.28205128205128205	69	0.1402439024390244	92	0.2541436464088398	132	0.23076923076923078	323	0.4261213720316623	C	6.256	0.415431	0.11870	0.156832	0.432194	ENSG00000140471	ENST00000314742	T	0.18338	2.22	5.48	1.52	0.23074	.	1.019250	0.07759	N	0.949715	T	0.00012	0.0000	L	0.44542	1.39	0.80722	P	0.0	B	0.32467	0.372	B	0.30316	0.114	T	0.47394	-0.9121	9	0.52906	T	0.07	0.0722	8.2917	0.31960	0.0:0.5925:0.0:0.4075	rs2411837;rs17777920;rs52833524;rs2411837	472	Q8NG48	LINES_HUMAN	T	472	ENSP00000318423:S472T	ENSP00000318423:S472T	S	-	2	0	LINS	98927825	0.000000	0.05858	0.025000	0.17156	0.670000	0.39368	-0.174000	0.09839	0.285000	0.22329	0.655000	0.94253	AGC	C|0.688;G|0.310		0.338	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		G	101110302	C	G	101110302	3	3	35	1	0	0	0	0	1	0	0	0	8848	797	28	3	862	3	LINS1	15	101110302	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	35740907	101110302	1421090	64	8574											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	35	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		57562804	32791949	65	8575											
POLR2A	5430	bcgsc.ca	37	chr17	7412403	7412403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactatgaaatgcctgacttTgatgtggcccgaatctcccc	8	12	1	3	rs2228133	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:7412403T>C	ENST00000322644.6	+	21	4005	c.3606T>C	c.(3604-3606)ttT>ttC	p.F1202F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1202					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCCTGACTTTGATGTGGCCC	0.542													T|||	553	0.110423	0.0431	0.1859	5008	,	,		18045	0.2183		0.0805	False		,,,				2504	0.0675				p.F1202F		.											.	POLR2A-91	0			c.T3606C						.	T		273,4133	153.3+/-186.9	11,251,1941	137	92	107		3606	-0.4	1	17	dbSNP_98	107	605,7995	159.2+/-212.6	23,559,3718	no	coding-synonymous	POLR2A	NM_000937.4		34,810,5659	CC,CT,TT		7.0349,6.1961,6.7507		1202/1971	7412403	878,12128	2203	4300	6503	SO:0001819	synonymous_variant	5430	exon21			TGACTTTGATGTG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3606T>C	17.37:g.7412403T>C		Somatic	332	2		WXS	Illumina GAIIx	Phase_I	200	7	NM_000937	0	0	3	3	0	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																			T|0.909;C|0.091		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		C	7412403	T	C	7412403	2	2	35	1	0	0	0	0	0	0	0	1	12253	1809	63	4		4	POLR2A	17	7412403	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10		7412403	73782807	66	8576											
FOXN1	8456	bcgsc.ca	37	chr17	26861877	26861877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcactcactccacccagctCcaggccccattcctggcaag	7	19	1	0	rs61749867	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:26861877C>T	ENST00000226247.2	+	7	1317	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P430S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	430					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCACCCAGCTCCAGGCCCCAT	0.677													C|||	60	0.0119808	0.0023	0.0072	5008	,	,		15813	0.001		0.0507	False		,,,				2504	0				p.P430S		.											.	FOXN1-226	0			c.C1288T						.	C	SER/PRO	37,4369	42.3+/-75.8	1,35,2167	36	34	34		1288	2.3	0.7	17	dbSNP_129	34	346,8254	117.9+/-177.5	11,324,3965	yes	missense	FOXN1	NM_003593.2	74	12,359,6132	TT,TC,CC		4.0233,0.8398,2.9448	benign	430/649	26861877	383,12623	2203	4300	6503	SO:0001583	missense	8456	exon7			CCAGCTCCAGGCC	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1288C>T	17.37:g.26861877C>T	ENSP00000226247:p.Pro430Ser	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	188	7	NM_003593	0	0	0	0	0	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	52	0.023809523809523808	1	0.0020325203252032522	3	0.008287292817679558	1	0.0017482517482517483	47	0.06200527704485488	C	6.967	0.548294	0.13312	0.008398	0.040233	ENSG00000109101	ENST00000226247	D	0.93189	-3.18	4.35	2.31	0.28768	.	0.215145	0.33309	N	0.005058	T	0.39226	0.1070	N	0.08118	0	0.19300	N	0.999979	B	0.02656	0.0	B	0.01281	0.0	T	0.57087	-0.7871	10	0.25751	T	0.34	.	5.3559	0.16061	0.0:0.4583:0.3023:0.2394	rs61749867	430	O15353	FOXN1_HUMAN	S	430	ENSP00000226247:P430S	ENSP00000226247:P430S	P	+	1	0	FOXN1	23886004	0.000000	0.05858	0.734000	0.30879	0.869000	0.49853	-0.500000	0.06405	0.457000	0.26962	0.561000	0.74099	CCA	C|0.971;T|0.029		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			T	26861877	C	T	26861877	3	4	35	1	0	0	0	0	1	0	0	0	6043	855	30	3	1314	3	FOXN1	17	26861877	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	19449474	26861877	54333333	67	8577											
ATP6V0A1	535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40666399	40666399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttcttcttcttcactGcctttgccaccctgaccgtg	7	15	4	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:40666399G>A	ENST00000343619.4	+	21	2464	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A781T|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A732T|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A427T|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A775T|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A738T|RP11-400F19.18_ENST00000591237.1_RNA|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A782T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	781					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCTTCACTGCCTTTGCCAC	0.602																																					p.A782T		.											.	ATP6V0A1-91	0			c.G2344A						.						241	209	219					17																	40666399		2203	4300	6503	SO:0001583	missense	535	exon20			TTCACTGCCTTTG	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2341G>A	17.37:g.40666399G>A	ENSP00000342951:p.Ala781Thr	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	176	48	NM_001130020	0	0	13	21	8	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713028	0.68730	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	4.57	3.6	0.41247	.	0.054064	0.64402	D	0.000001	D	0.92309	0.7560	M	0.89095	3.005	0.51233	D	0.999915	P;P;P;P;P	0.43024	0.798;0.766;0.766;0.794;0.609	P;P;P;B;P	0.54100	0.533;0.533;0.742;0.383;0.502	D	0.92606	0.6095	10	0.54805	T	0.06	-10.315	12.4435	0.55637	0.0811:0.0:0.9189:0.0	.	732;738;782;781;775	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	T	781;781;775;782;732;427	ENSP00000342951:A781T;ENSP00000444676:A781T;ENSP00000377415:A775T;ENSP00000264649:A782T;ENSP00000443991:A732T;ENSP00000446377:A427T	ENSP00000264649:A782T	A	+	1	0	ATP6V0A1	37919925	1.000000	0.71417	0.970000	0.41538	0.760000	0.43138	3.620000	0.54203	1.164000	0.42652	0.561000	0.74099	GCC	.		0.602	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		A	40666399	G	A	40666399	3	1	35	1	0	0	0	0	1	0	0	0	1169	1319	46	3	2440	3	ATP6V0A1	17	40666399	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	13804522	40666399	40528811	68	8578											
HSD17B1	3292	hgsc.bcm.edu	37	chr17	40706906	40706906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggacgaggccgggcgcGgtgcggtgggggaccctgag	22	10	0	2	rs605059	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:40706906G>A	ENST00000585807.1	+	6	4657	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	HSD17B1_ENST00000225929.5_Missense_Mutation_p.G314S|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	313			G -> S (in dbSNP:rs605059). {ECO:0000269|PubMed:1327779, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2197970, ECO:0000269|PubMed:2330005, ECO:0000269|PubMed:2779584, ECO:0000269|PubMed:2846351, ECO:0000269|PubMed:8389226, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCCGGGCGCGGTGCGGTGGG	0.736													A|||	2617	0.522564	0.4849	0.4942	5008	,	,		11834	0.4534		0.5249	False		,,,				2504	0.6626				p.G313S		.											.	HSD17B1-90	0			c.G937A	GRCh37	CM057951	HSD17B1	M	rs605059	.	A	SER/GLY	2209,1645		683,843,401	3	5	4		937	-1.2	0	17	dbSNP_83	4	4593,3023		1489,1615,704	no	missense	HSD17B1	NM_000413.2	56	2172,2458,1105	AA,AG,GG		39.6928,42.6829,40.6975	benign	313/329	40706906	6802,4668	1927	3808	5735	SO:0001583	missense	3292	exon6			GGGCGCGGTGCGG		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.937G>A	17.37:g.40706906G>A	ENSP00000466799:p.Gly313Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_000413	0	0	0	0	0	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	1065	0.4876373626373626	249	0.5060975609756098	161	0.4447513812154696	257	0.4493006993006993	398	0.525065963060686	A	1.679	-0.506941	0.04231	0.573171	0.603072	ENSG00000108786	ENST00000225929	.	.	.	0.605	-1.21	0.09524	.	15.510600	0.00792	N	0.001347	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49916	-0.8888	7	0.15952	T	0.53	.	.	.	.	rs605059;rs58087383	344;313	B3RFR9;P14061	.;DHB1_HUMAN	S	313	.	ENSP00000225929:G313S	G	+	1	0	HSD17B1	37960432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.026000	0.03596	-2.560000	0.00474	-1.912000	0.00520	GGT	G|0.505;A|0.495		0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		A	40706906	G	A	40706906	3	1	35	1	0	0	0	0	1	0	0	0	7405	1116	39	1	959	1	HSD17B1	17	40706906	Missense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	40507	40706906	40488304	69	8579											
IGF2BP1	10642	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	47117325	47117325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggcccccaggatagaCgtgcataggaaggagaacgc	14	10	0	2	rs372137995		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:47117325C>A	ENST00000290341.3	+	7	1024	c.690C>A	c.(688-690)gaC>gaA	p.D230E	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	230	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGATAGACGTGCATAGGA	0.547																																					p.D230E	Esophageal Squamous(198;1041 2123 8248 37119 38268)	.											.	IGF2BP1-226	0			c.C690A						.						109	104	106					17																	47117325		2203	4300	6503	SO:0001583	missense	10642	exon7			GATAGACGTGCAT	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.690C>A	17.37:g.47117325C>A	ENSP00000290341:p.Asp230Glu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	81	6	NM_006546	0	0	0	0	0	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100161	0.76983	.	.	ENSG00000159217	ENST00000290341	T	0.31769	1.48	5.65	-2.98	0.05513	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.59912	1.85	0.80722	D	1	P	0.51449	0.945	P	0.59948	0.866	T	0.42032	-0.9475	10	0.66056	D	0.02	-31.2017	12.2208	0.54433	0.0:0.346:0.0:0.654	.	230	Q9NZI8	IF2B1_HUMAN	E	230	ENSP00000290341:D230E	ENSP00000290341:D230E	D	+	3	2	IGF2BP1	44472324	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-1.842000	0.01681	-0.358000	0.08162	-0.122000	0.15005	GAC	.		0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		A	47117325	C	A	47117325	3	1	35	1	0	0	0	0	1	0	0	0	7600	535	19	2	716	2	IGF2BP1	17	47117325	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	6410419	47117325	34077885	70	8580											
PRKAR1A	5573	hgsc.bcm.edu	37	chr17	66511699	66511700	+	Frame_Shift_Ins	INS	-	-	T													tggcattcctcagggaatacINStttgagaggttggagaaggt							TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr17:66511699_66511700insT	ENST00000589228.1	+	2	287_288	c.159_160insT	c.(160-162)tttfs	p.F54fs	PRKAR1A_ENST00000588188.2_Frame_Shift_Ins_p.F54fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Ins_p.F54fs|PRKAR1A_ENST00000586397.1_Frame_Shift_Ins_p.F54fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Ins_p.F54fs|PRKAR1A_ENST00000392711.1_Frame_Shift_Ins_p.F54fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	54	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TCAGGGAATACTTTGAGAGGTT	0.401			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.Y53fs	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	0			c.159_160insT						.																																			SO:0001589	frameshift_variant	5573	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	GGAATACTTTGAG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.162dupT	17.37:g.66511702_66511702dupT	ENSP00000464977:p.Phe54fs	Somatic	78	2		WXS	Illumina GAIIx	Phase_I	173	118	NM_001276290	0	0	0	0	0	K7ER48|Q567S7	Frame_Shift_Ins	INS	ENST00000589228.1	37	CCDS11678.1																																																																																			.		0.401	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			T	66511700	-	T	66511699	7	5	35	1	0	1	1	0	0	0	0	0	12545	576	20	0	161	0	PRKAR1A	17	66511699	Frame_Shift_Ins	INS	-	TCGA-OR-A5KT-01A-11D-A29I-10	19394374	66511699	14683511	71	8581											
TMX3	54495	broad.mit.edu	37	chr18	66377285	66377285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtagcatccatctttcCaaccttaactggagaaccaa	7	11	1	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr18:66377285C>T	ENST00000299608.2	-	4	554	c.238G>A	c.(238-240)Gga>Aga	p.G80R	TMX3_ENST00000443099.2_Missense_Mutation_p.G80R|TMX3_ENST00000562706.1_Missense_Mutation_p.G80R	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	80	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCCATCTTTCCAACCTTAACT	0.378																																					p.G80R		.											.	TMX3-91	0			c.G238A						.						125	114	117					18																	66377285		2203	4300	6503	SO:0001583	missense	54495	exon4			TCTTTCCAACCTT	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.238G>A	18.37:g.66377285C>T	ENSP00000299608:p.Gly80Arg	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	87	4	NM_019022	0	0	0	0	0	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953872	0.92660	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.46063	0.88;3.98;3.98	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.77070	-0.2724	10	0.87932	D	0	.	18.1057	0.89519	0.0:1.0:0.0:0.0	.	80;80;80	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	R	80	ENSP00000299608:G80R;ENSP00000444954:G80R;ENSP00000402605:G80R	ENSP00000299608:G80R	G	-	1	0	TMX3	64528265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.719000	0.84751	2.619000	0.88677	0.563000	0.77884	GGA	.		0.378	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		T	66377285	C	T	66377285	3	4	35	1	0	0	0	0	1	0	0	0	16315	603	21	3	1178	3	TMX3	18	66377285	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		66377285	11699963	72	8582											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	35	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	3832036	70209321	7867927	73	8583											
MUC16	94025	bcgsc.ca	37	chr19	9062415	9062415	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtggaaggctgcatgTcttctgtatctacagtgtct	12	7	4	0	rs12978757	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:9062415T>G	ENST00000397910.4	-	3	25234	c.25031A>C	c.(25030-25032)gAc>gCc	p.D8344A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8346	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						AGGCTGCATGTCTTCTGTATC	0.478													G|||	2948	0.588658	0.5507	0.6801	5008	,	,		22695	0.6042		0.5646	False		,,,				2504	0.5838				p.D8344A		.											.	MUC16-566	0			c.A25031C						.	G	ALA/ASP	2329,1863		668,993,435	195	189	191		25031	-5	0	19	dbSNP_121	191	5173,3285		1590,1993,646	yes	missense	MUC16	NM_024690.2	126	2258,2986,1081	GG,GT,TT		38.839,44.4418,40.6957	benign	8344/14508	9062415	7502,5148	2096	4229	6325	SO:0001583	missense	94025	exon3			TGCATGTCTTCTG	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.25031A>C	19.37:g.9062415T>G	ENSP00000381008:p.Asp8344Ala	Somatic	249	2		WXS	Illumina GAIIx	Phase_I	227	7	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	1303	0.5966117216117216	260	0.5284552845528455	230	0.6353591160220995	379	0.6625874125874126	434	0.5725593667546174	g	4.255	0.046398	0.08243	0.555582	0.61161	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.5	-5.0	0.03001	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	8	0.87932	D	0	.	7.0457	0.25044	0.0:0.2676:0.1932:0.5392	rs12978757;rs52832392;rs61633210;rs12978757	8344	B5ME49	.	A	8344	ENSP00000381008:D8344A	ENSP00000381008:D8344A	D	-	2	0	MUC16	8923415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.632000	0.05489	-1.816000	0.01221	-1.931000	0.00510	GAC	T|0.401;G|0.599		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9062415	T	G	9062415	3	3	35	1	0	0	0	0	1	0	0	0	10011	1667	58	5	18820	5	MUC16	19	9062415	Missense_Mutation	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10		9062415	50066568	74	8584											
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558367	11558367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaggaagaagaggctgaaga	23	1	0	4			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:11558367G>A	ENST00000589838.1	+	10	963	c.963G>A	c.(961-963)gaG>gaA	p.E321E	PRKCSH_ENST00000587327.1_Silent_p.E321E|PRKCSH_ENST00000591462.1_Silent_p.E321E|PRKCSH_ENST00000412601.1_Silent_p.E321E|PRKCSH_ENST00000592741.1_Silent_p.E321E|PRKCSH_ENST00000252455.2_Silent_p.E321E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	321	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaggaagaag	0.632																																					p.E321E		.											.	PRKCSH-90	1	Deletion - In frame(1)	central_nervous_system(1)	c.G963A						.						28	28	28					19																	11558367		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAGGAA		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.963G>A	19.37:g.11558367G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	104	8	NM_001001329	0	0	40	40	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.		0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558367	G	A	11558367	2	1	35	1	0	0	0	0	0	0	0	1	12558	991	35	3		3	PRKCSH	19	11558367	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	2495952	11558367	47570616	75	8585											
RFX1	5989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14088836	14088836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagctggcatcgccgccCtccacatactgcacctggct	10	16	0	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:14088836C>G	ENST00000254325.4	-	8	1131	c.897G>C	c.(895-897)gaG>gaC	p.E299D		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	299					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CATCGCCGCCCTCCACATACT	0.657																																					p.E299D		.											.	RFX1-92	0			c.G897C						.						123	111	115					19																	14088836		2203	4300	6503	SO:0001583	missense	5989	exon8			GCCGCCCTCCACA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.897G>C	19.37:g.14088836C>G	ENSP00000254325:p.Glu299Asp	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	84	32	NM_002918	0	0	1	1	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865557	0.71949	.	.	ENSG00000132005	ENST00000254325	T	0.52295	0.67	4.71	2.57	0.30868	RFX1 transcription activation region (1);	0.194474	0.45126	D	0.000399	T	0.60996	0.2312	M	0.69523	2.12	0.42239	D	0.99192	D	0.76494	0.999	D	0.87578	0.998	T	0.58825	-0.7568	10	0.37606	T	0.19	-7.3656	7.1625	0.25672	0.0:0.7097:0.0:0.2903	.	299	P22670	RFX1_HUMAN	D	299	ENSP00000254325:E299D	ENSP00000254325:E299D	E	-	3	2	RFX1	13949836	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.368000	0.34216	0.969000	0.38237	0.555000	0.69702	GAG	.		0.657	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		G	14088836	C	G	14088836	3	3	35	1	0	0	0	0	1	0	0	0	13307	680	24	3	2098	3	RFX1	19	14088836	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	2530469	14088836	45040147	76	8586											
SLC7A9	11136	bcgsc.ca	37	chr19	33355069	33355069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacatagaagggcgcAcacacatactcggagaagct	10	13	0	2	rs12150890	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:33355069A>G	ENST00000023064.4	-	4	602	c.411T>C	c.(409-411)tgT>tgC	p.C137C	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Silent_p.C137C|SLC7A9_ENST00000587772.1_Silent_p.C137C	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	137					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AGAAGGGCGCACACACATACT	0.602													G|||	362	0.0722843	0.0129	0.0692	5008	,	,		19763	0.1032		0.1491	False		,,,				2504	0.044				p.C137C	GBM(181;1335 2108 9644 44178 46689)	.											.	SLC7A9-91	0			c.T411C						.	G	,	152,4254	812.2+/-416.1	3,146,2054	109	85	93		411,411	-9.7	0	19	dbSNP_120	93	1217,7383	762.1+/-407.6	75,1067,3158	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	78,1213,5212	GG,GA,AA		14.1512,3.4498,10.5259	,	137/488,137/488	33355069	1369,11637	2203	4300	6503	SO:0001819	synonymous_variant	11136	exon4			GGGCGCACACACA	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.411T>C	19.37:g.33355069A>G		Somatic	179	1		WXS	Illumina GAIIx	Phase_I	118	6	NM_001243036	0	0	0	0	0	B2R9A6	Silent	SNP	ENST00000023064.4	37	CCDS12425.1																																																																																			A|0.901;G|0.099		0.602	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			G	33355069	A	G	33355069	2	3	35	1	0	0	0	0	0	0	0	1	14750	157	6	4		4	SLC7A9	19	33355069	Silent	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	19266233	33355069	25773914	77	8587											
SAMD4B	55095	hgsc.bcm.edu;broad.mit.edu	37	chr19	39871263	39871263	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactcgctccccatagctggCtctgtggggatgggagtggc	15	11	1	0			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:39871263C>G	ENST00000314471.6	+	13	2721	c.1686C>G	c.(1684-1686)ggC>ggG	p.G562G	SAMD4B_ENST00000598913.1_Silent_p.G562G|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCATAGCTGGCTCTGTGGGGA	0.647																																					p.G562G		.											.	SAMD4B-90	0			c.C1686G						.						42	41	42					19																	39871263		2202	4300	6502	SO:0001819	synonymous_variant	55095	exon13			AGCTGGCTCTGTG		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1686C>G	19.37:g.39871263C>G		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_018028	0	0	5	6	1	A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	CCDS33020.1																																																																																			.		0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		G	39871263	C	G	39871263	2	3	35	1	0	0	0	0	0	0	0	1	13867	784	28	3		3	SAMD4B	19	39871263	Silent	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	6516194	39871263	19257720	78	8588											
FCGBP	8857	bcgsc.ca	37	chr19	40406019	40406019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttacccgcatggcacgtGcactgctgccgacagttgtc	10	15	0	0	rs2355719	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:40406019G>A	ENST00000221347.6	-	10	4834	c.4827C>T	c.(4825-4827)tgC>tgT	p.C1609C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1609	Cys-rich.					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)			CATGGCACGTGCACTGCTGCC	0.632													A|||	1308	0.261182	0.1566	0.402	5008	,	,		20345	0.2163		0.3419	False		,,,				2504	0.2658				p.C1609C		.											.	FCGBP-98	0			c.C4827T						.						77	55	62					19																	40406019		2203	4298	6501	SO:0001819	synonymous_variant	8857	exon10			GCACGTGCACTGC	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.4827C>T	19.37:g.40406019G>A		Somatic	307	3		WXS	Illumina GAIIx	Phase_I	180	8	NM_003890	0	0	0	0	0	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			G|0.732;A|0.268		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40406019	G	A	40406019	2	1	35	1	0	0	0	0	0	0	0	1	5800	1311	46	3		3	FCGBP	19	40406019	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	534756	40406019	18722964	79	8589											
CEACAM20	125931	bcgsc.ca	37	chr19	45016116	45016116	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgggatatattgcAatactcaggactcaggcttt	10	8	2	1	rs8100718	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr19:45016116A>G	ENST00000454753.1	-	0	1813							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.C511R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATATATTGCAATACTCAGGA	0.507													A|||	1925	0.384385	0.1679	0.4078	5008	,	,		18720	0.3919		0.4612	False		,,,				2504	0.5736				p.C512R		.											.	CEACAM20-67	1	Substitution - Missense(1)	prostate(1)	c.T1534C						.	A	ARG/CYS,ARG/CYS,ARG/CYS,ARG/CYS	917,3079		106,705,1187	46	46	46		1535,1256,1256,1535	0.9	0	19	dbSNP_116	46	4182,4158		1069,2044,1057	yes	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	180,180,180,180	1175,2749,2244	GG,GA,AA		49.8561,22.9479,41.3343	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	512/597,419/492,419/504,512/585	45016116	5099,7237	1998	4170	6168			125931	exon10			TATTGCAATACTC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016116A>G		Somatic	198	0		WXS	Illumina GAIIx	Phase_I	136	6	NM_001102600	0	0	0	0	0		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																				A|0.633;G|0.367		0.507	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		G	45016116	A	G	45016116	1	3	35	0	1	0	0	0	0	0	0	0	3198	130	5	4		4	CEACAM20	19	45016116	RNA	SNP	A	TCGA-OR-A5KT-01A-11D-A29I-10	4610097	45016116	14112867	80	8590											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033089	0	0	0	0	0	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	35	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10		278515	62747005	81	8591											
CLDN5	7122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	19511427	19511427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcacgcctcccgtgagggCcacacgcgccttggccgggc	15	17	0	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr22:19511427C>G	ENST00000406028.1	-	2	1667	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P	CLDN5_ENST00000403084.1_Missense_Mutation_p.A203P|CLDN5_ENST00000413119.2_Missense_Mutation_p.A203P			O00501	CLD5_HUMAN	claudin 5	118					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CCCGTGAGGGCCACACGCGCC	0.692																																					p.A203P		.											.	CLDN5-492	0			c.G607C						.						10	11	10					22																	19511427		2180	4274	6454	SO:0001583	missense	7122	exon1			TGAGGGCCACACG	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.607G>C	22.37:g.19511427C>G	ENSP00000385477:p.Ala203Pro	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	27	10	NM_001130861	0	0	40	40	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686624	0.68157	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.87729	-2.29;-2.29;-2.29	4.89	4.89	0.63831	.	0.131234	0.50627	D	0.000102	D	0.92851	0.7726	M	0.83483	2.645	0.38055	D	0.935899	D	0.69078	0.997	D	0.67725	0.953	D	0.94523	0.7729	10	0.72032	D	0.01	.	12.8745	0.57982	0.0:0.8364:0.1636:0.0	.	203	D3DX19	.	P	203	ENSP00000385477:A203P;ENSP00000384554:A203P;ENSP00000400612:A203P	ENSP00000384554:A203P	A	-	1	0	CLDN5	17891427	0.057000	0.20700	1.000000	0.80357	0.359000	0.29487	0.909000	0.28558	2.274000	0.75844	0.462000	0.41574	GCC	.		0.692	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		G	19511427	C	G	19511427	3	3	35	1	0	0	0	0	1	0	0	0	3495	739	26	3	308	3	CLDN5	22	19511427	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10		19511427	31793139	82	8592											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt	21	13	0	0	rs759609		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	35	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10	1268670	20780097	30524469	83	8593											
SH3BP1	23616	broad.mit.edu	37	chr22	38042891	38042891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagacaatggcctcggacCcccacagcctggaggagttc	12	14	0	1	rs373775839		TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chr22:38042891C>T	ENST00000357436.4	+	11	1304	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	SH3BP1_ENST00000442465.2_Missense_Mutation_p.P331S|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.P331S|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000599616.1_Missense_Mutation_p.P267S	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	331	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)					GGCCTCGGACCCCCACAGCCT	0.677																																					p.P331S		.											.	SH3BP1-90	0			c.C991T						.	C	SER/PRO	0,4376		0,0,2188	32	23	26		991	5.7	1	22		26	1,8563		0,1,4281	no	missense	SH3BP1	NM_018957.3	74	0,1,6469	TT,TC,CC		0.0117,0.0,0.0077	benign	331/702	38042891	1,12939	2188	4282	6470	SO:0001583	missense	23616	exon11			TCGGACCCCCACA		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.991C>T	22.37:g.38042891C>T	ENSP00000350018:p.Pro331Ser	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	35	3	NM_018957	0	0	0	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238285	0.39598	0.0	1.17E-4	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.17691	2.26;2.26;2.26	5.71	5.71	0.89125	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.099287	0.45126	D	0.000394	T	0.10078	0.0247	L	0.37466	1.105	0.37120	D	0.900781	B;P;B;B;P	0.40398	0.002;0.716;0.064;0.321;0.716	B;B;B;B;B	0.35039	0.018;0.194;0.038;0.194;0.194	T	0.13791	-1.0496	10	0.10111	T	0.7	.	6.667	0.23047	0.0:0.7087:0.1786:0.1127	.	331;245;267;331;245	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	S	331;331;331;245	ENSP00000350018:P331S;ENSP00000337213:P331S;ENSP00000395126:P331S	ENSP00000337213:P331S	P	+	1	0	SH3BP1	36372837	0.235000	0.23794	0.976000	0.42696	0.901000	0.52897	1.810000	0.38932	2.689000	0.91719	0.655000	0.94253	CCC	.		0.677	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		T	38042891	C	T	38042891	3	4	35	1	0	0	0	0	1	0	0	0	14289	623	22	3	1033	3	SH3BP1	22	38042891	Missense_Mutation	SNP	C	TCGA-OR-A5KT-01A-11D-A29I-10	17262794	38042891	13261675	84	8594											
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	76939322	76939322	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcctctgttggaacattctGatgcatgtgctcactatcta	7	10	4	1			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chrX:76939322G>A	ENST00000373344.5	-	9	1640	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q438*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	476					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGAACATTCTGATGCATGTGC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.Q476X		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX-248	1	Unknown(1)	bone(1)	c.C1426T						.						196	198	197					X																	76939322		2203	4296	6499	SO:0001587	stop_gained	546	exon9			CATTCTGATGCAT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1426C>T	X.37:g.76939322G>A	ENSP00000362441:p.Gln476*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	62	18	NM_000489	0	0	0	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	18.19	3.568864	0.65765	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.5	4.5	0.54988	.	0.716641	0.12865	U	0.432752	.	.	.	.	.	.	0.24902	N	0.992096	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	0.0483	16.6202	0.84928	0.0:0.0:1.0:0.0	.	.	.	.	X	476;438;432	.	ENSP00000362441:Q476X	Q	-	1	0	ATRX	76825978	1.000000	0.71417	0.213000	0.23690	0.079000	0.17450	5.379000	0.66196	1.834000	0.53371	0.509000	0.49947	CAG	.		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76939322	G	A	76939322	4	1	35	1	0	0	0	0	0	1	0	0	1209	1299	45	3	6160	3	ATRX	23	76939322	Nonsense_Mutation	SNP	G	TCGA-OR-A5KT-01A-11D-A29I-10		76939322	78331238	85	8595											
ATP11C	286410	broad.mit.edu;bcgsc.ca	37	chrX	138886677	138886677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagtgacataacaggTtccatcagtggtgcaagatg	13	7	1	2			TCGA-OR-A5KT-01A-11D-A29I-10	TCGA-OR-A5KT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	062c82a9-f4e0-4eb0-adbc-3cb73423050d	35c2cd8b-80ce-4327-a1a3-f3ab82a32ccc	g.chrX:138886677T>C	ENST00000327569.3	-	6	615	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	ATP11C_ENST00000370557.1_Missense_Mutation_p.T170A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T173A|ATP11C_ENST00000359686.2_Missense_Mutation_p.T173A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T173A	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					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)					ACATAACAGGTTCCATCAGTG	0.393																																					p.T173A		.											.	ATP11C-198	0			c.A517G						.						218	192	201					X																	138886677		2203	4300	6503	SO:0001583	missense	286410	exon6			AACAGGTTCCATC	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.517A>G	X.37:g.138886677T>C	ENSP00000332756:p.Thr173Ala	Somatic	381	1		WXS	Illumina GAIIx	Phase_I	352	10	NM_001010986	0	0	0	0	0	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785708	0.70337	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	4.7	4.7	0.59300	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.46885	1.475	0.47994	D	0.999565	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93285	0.6663	10	0.66056	D	0.02	.	12.4973	0.55935	0.0:0.0:0.0:1.0	.	173;173	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	A	170;173;173;173;173	ENSP00000359588:T170A;ENSP00000355165:T173A;ENSP00000332756:T173A;ENSP00000359574:T173A;ENSP00000352715:T173A	ENSP00000332756:T173A	T	-	1	0	ATP11C	138714343	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.816000	0.86201	1.741000	0.51731	0.345000	0.21793	ACC	.		0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138886677	T	C	138886677	3	2	35	1	0	0	0	0	1	0	0	0	1122	1725	60	4	3044	4	ATP11C	23	138886677	Missense_Mutation	SNP	T	TCGA-OR-A5KT-01A-11D-A29I-10	61947355	138886677	16383883	86	8596											
PRAMEF2	65122	bcgsc.ca	37	chr1	12920067	12920067	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcctcaggctggaacacctCcagttgcttaaaataaaatt	6	10	1	0	rs17038709	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:12920067C>G	ENST00000240189.2	+	3	894	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	269					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACACCTCCAGTTGCTTA	0.463													.|||	548	0.109425	0.1263	0.0994	5008	,	,		21768	0.131		0.1083	False		,,,				2504	0.0726				p.L269L		.											.	PRAMEF2-68	0			c.C807G						.	C		618,3788	260.7+/-263.8	63,492,1648	91	91	91		807	0.8	0	1	dbSNP_123	91	978,7610	209.0+/-250.3	81,816,3397	no	coding-synonymous	PRAMEF2	NM_023014.1		144,1308,5045	GG,GC,CC		11.388,14.0263,12.2826		269/475	12920067	1596,11398	2203	4294	6497	SO:0001819	synonymous_variant	65122	exon3			ACACCTCCAGTTG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.807C>G	1.37:g.12920067C>G		Somatic	107	1		WXS	Illumina GAIIx	Phase_I	48	4	NM_023014	0	0	0	0	0		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																			C|0.887;G|0.113		0.463	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		G	12920067	C	G	12920067	2	3	36	1	0	0	0	0	0	0	0	1	12477	842	30	3		3	PRAMEF2	1	12920067	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		12920067	236330554	1	8597											
PINK1	65018	hgsc.bcm.edu	37	chr1	20960230	20960230	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtcgggctcgggctCcctaaccgtctccgcttctt	12	16	2	0	rs45540544|rs45630563|rs45530340	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:20960230C>T	ENST00000321556.4	+	1	283	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	63					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCGGGCTCCCTAACCGTC	0.791													C|||	644	0.128594	0.053	0.1571	5008	,	,		6081	0.127		0.1938	False		,,,				2504	0.1452				p.L63L	Esophageal Squamous(145;853 1803 8146 34412 35011)	.											.	PINK1-380	0			c.C189T						.	C		165,3267		4,157,1555	3	4	3		189	0.4	0.9	1	dbSNP_127	3	1114,5976		93,928,2524	no	coding-synonymous	PINK1	NM_032409.2		97,1085,4079	TT,TC,CC		15.7123,4.8077,12.1555		63/582	20960230	1279,9243	1716	3545	5261	SO:0001819	synonymous_variant	65018	exon1			CGGGCTCCCTAAC	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.189C>T	1.37:g.20960230C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_032409	0	0	0	2	2	Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	CCDS211.1																																																																																			C|0.868;T|0.132		0.791	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		T	20960230	C	T	20960230	2	4	36	1	0	0	0	0	0	0	0	1	11971	842	30	3		3	PINK1	1	20960230	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	8040163	20960230	228290391	2	8598											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	36	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	8178745	29138975	220111646	3	8599											
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_024408	0	0	1	1	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	36	1	0	0	0	0	1	0	0	0	10587	1079	38	2	7494	2	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	91472989	120611964	128638657	4	8600											
HRNR	388697	bcgsc.ca	37	chr1	152185882	152185882	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccatagctggaagactgGcctgtgctagatccctcctg	12	12	0	2	rs41266126	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:152185882G>C	ENST00000368801.2	-	3	8298	c.8223C>G	c.(8221-8223)ggC>ggG	p.G2741G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2741					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G2741G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGACTGGCCTGTGCTAG	0.577																																					p.G2741G		.											.	HRNR-93	1	Substitution - coding silent(1)	prostate(1)	c.C8223G						.						28	16	20					1																	152185882		2167	4065	6232	SO:0001819	synonymous_variant	388697	exon3			AGACTGGCCTGTG	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.8223C>G	1.37:g.152185882G>C		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	43	11	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																			A|1.000;|0.000		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		C	152185882	G	C	152185882	2	2	36	1	0	0	0	0	0	0	0	1	7386	1190	42	3		3	HRNR	1	152185882	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	31573918	152185882	97064739	5	8601											
PVRL4	81607	hgsc.bcm.edu	37	chr1	161049499	161049499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcactgagccgtccaggGggttgcgtgggggcggcggc	22	10	0	1	rs78105657	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:161049499G>A	ENST00000368012.3	-	2	622	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	107	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCGTCCAGGGGGTTGCGTGG	0.692													g|||	21	0.00419329	0	0.0058	5008	,	,		16028	0		0.0119	False		,,,				2504	0.0051				p.P107L	NSCLC(76;1160 1387 14476 16172 29359)	.											.	PVRL4-92	0			c.C320T						.	G	LEU/PRO	3,4337		0,3,2167	19	21	20		320	5.5	1	1	dbSNP_131	20	66,8436		0,66,4185	yes	missense	PVRL4	NM_030916.2	98	0,69,6352	AA,AG,GG		0.7763,0.0691,0.5373	benign	107/511	161049499	69,12773	2170	4251	6421	SO:0001583	missense	81607	exon2			TCCAGGGGGTTGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.320C>T	1.37:g.161049499G>A	ENSP00000356991:p.Pro107Leu	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	39	32	NM_030916	0	0	0	0	0	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	g	23.6	4.433206	0.83776	6.91E-4	0.007763	ENSG00000143217	ENST00000368012	T	0.64991	-0.13	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.56587	0.1995	N	0.26042	0.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52193	-0.8608	10	0.10636	T	0.68	.	16.9215	0.86165	0.0:0.0:1.0:0.0	.	107	Q96NY8	PVRL4_HUMAN	L	107	ENSP00000356991:P107L	ENSP00000356991:P107L	P	-	2	0	PVRL4	159316123	0.999000	0.42202	0.973000	0.42090	0.837000	0.47467	3.786000	0.55431	2.574000	0.86865	0.650000	0.86243	CCC	G|0.994;A|0.006		0.692	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		A	161049499	G	A	161049499	3	1	36	1	0	0	0	0	1	0	0	0	12887	1232	43	3	1244	3	PVRL4	1	161049499	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	8863617	161049499	88201122	6	8602											
C1orf14	81626	hgsc.bcm.edu	37	chr1	182922067	182922067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggcgctggagccgcaGcctggccgtctcccggcccg	17	17	1	0	rs188196867	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:182922067G>T	ENST00000367547.3	-	1	438	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	140								p.L68M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGGAGCCGCAGCCTGGCCGTC	0.761													G|||	65	0.0129792	0.0015	0.0447	5008	,	,		12094	0		0.0219	False		,,,				2504	0.0102				p.L68M		.											.	SHCBP1L-91	1	Substitution - Missense(1)	breast(1)	c.C202A						.	G	MET/LEU	22,3042		0,22,1510	2	3	3		202	3	1	1		3	167,6229		1,165,3032	no	missense	SHCBP1L	NM_030933.2	15	1,187,4542	TT,TG,GG		2.611,0.718,1.9979	benign	68/654	182922067	189,9271	1532	3198	4730	SO:0001583	missense	81626	exon1			GCCGCAGCCTGGC	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.202C>A	1.37:g.182922067G>T	ENSP00000356518:p.Leu68Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_030933	0	0	0	0	0	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	41	0.018772893772893772	7	0.014227642276422764	14	0.03867403314917127	0	0.0	20	0.026385224274406333	G	8.485	0.860773	0.17178	0.00718	0.02611	ENSG00000157060	ENST00000367547;ENST00000287709	T	0.46063	0.88	3.9	2.98	0.34508	.	0.716137	0.11457	N	0.562144	T	0.05044	0.0135	N	0.08118	0	0.80722	D	1	P	0.37276	0.589	B	0.34779	0.189	T	0.02132	-1.1208	10	0.31617	T	0.26	-4.4958	7.9824	0.30192	0.1203:0.0:0.8797:0.0	.	68	Q9BZQ2-3	.	M	68;137	ENSP00000356518:L68M	ENSP00000287709:L137M	L	-	1	2	SHCBP1L	181188690	0.878000	0.30173	0.996000	0.52242	0.343000	0.28985	0.241000	0.18065	0.752000	0.32923	-0.657000	0.03884	CTG	G|0.981;T|0.019		0.761	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		T	182922067	G	T	182922067	3	4	36	1	0	0	0	0	1	0	0	0	2007	962	34	3	1799	3	C1orf14	1	182922067	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	21872568	182922067	66328554	7	8603											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	36	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	17958911	200880978	48369643	8	8604											
OR2T4	127074	bcgsc.ca	37	chr1	248524967	248524967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaatccaaacatccaAtggccaatatcacctggatg	6	12	2	1	rs200915140	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr1:248524967A>G	ENST00000366475.1	+	1	85	c.85A>G	c.(85-87)Atg>Gtg	p.M29V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAACATCCAATGGCCAATAT	0.498													N|||	140	0.0279553	0	0.0259	5008	,	,		15202	0.0665		0.0099	False		,,,				2504	0.046				p.M29V		.											.	OR2T4-68	0			c.A85G						.						108	92	98					1																	248524967		2200	4243	6443	SO:0001583	missense	127074	exon1			CATCCAATGGCCA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.85A>G	1.37:g.248524967A>G	ENSP00000355431:p.Met29Val	Somatic	288	2		WXS	Illumina GAIIx	Phase_I	97	8	NM_001004696	0	0	0	0	0	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	5.874	0.345427	0.11126	.	.	ENSG00000196944	ENST00000366475	T	0.01516	4.81	1.03	1.03	0.20045	.	0.000000	0.50627	D	0.000118	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B	0.31435	0.323	B	0.30316	0.114	T	0.47623	-0.9103	10	0.54805	T	0.06	.	1.7485	0.02967	0.4978:0.0:0.2193:0.2829	.	29	Q8NH00	OR2T4_HUMAN	V	29	ENSP00000355431:M29V	ENSP00000355431:M29V	M	+	1	0	OR2T4	246591590	0.804000	0.28969	0.451000	0.26982	0.234000	0.25298	0.925000	0.28791	0.382000	0.24878	0.076000	0.15429	ATG	.		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248524967	A	G	248524967	3	3	36	1	0	0	0	0	1	0	0	0	11066	101	4	4	87	4	OR2T4	1	248524967	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	47643989	248524967	725654	9	8605											
SIX3	6496	hgsc.bcm.edu	37	chr2	45171842	45171842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgacggagcgcgcAgacaccggcacctccatcct	10	18	0	2	rs338074	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18	19	19		942	1	1	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		G	45171842	A	G	45171842	2	3	36	1	0	0	0	0	0	0	0	1	14393	175	7	4		4	SIX3	2	45171842	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10		45171842	198027531	10	8606											
RNF149	284996	hgsc.bcm.edu	37	chr2	101925026	101925026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgcgagccccgacgcTggcttcgcgccgccgccacg	13	21	0	0	rs11123868	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:101925026T>C	ENST00000295317.3	-	1	132	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	9			S -> G (in dbSNP:rs11123868). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCCCCGACGCTGGCTTCGCGC	0.726													C|||	2397	0.478634	0.7678	0.4582	5008	,	,		13525	0.3175		0.3917	False		,,,				2504	0.3579				p.S9G	Colon(25;331 612 6521 7355 31028)	.											.	RNF149-290	0			c.A25G						.	C	GLY/SER	1794,1350		547,700,325	4	6	5		25	-2.5	0	2	dbSNP_120	5	2382,4344		496,1390,1477	no	missense	RNF149	NM_173647.3	56	1043,2090,1802	CC,CT,TT		35.4148,42.9389,42.31	benign	9/401	101925026	4176,5694	1572	3363	4935	SO:0001583	missense	284996	exon1			CGACGCTGGCTTC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.25A>G	2.37:g.101925026T>C	ENSP00000295317:p.Ser9Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_173647	0	0	0	1	1	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	1023	0.4684065934065934	378	0.7682926829268293	162	0.44751381215469616	189	0.3304195804195804	294	0.38786279683377306	C	1.566	-0.535355	0.04082	0.570611	0.354148	ENSG00000163162	ENST00000295317	T	0.08634	3.07	3.96	-2.45	0.06481	.	4.553570	0.01792	N	0.032390	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	0.16896	T	0.51	.	7.6769	0.28490	0.0:0.1603:0.4369:0.4028	rs11123868;rs17856944;rs56755384	9	Q8NC42	RN149_HUMAN	G	9	ENSP00000295317:S9G	ENSP00000295317:S9G	S	-	1	0	RNF149	101291458	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.581000	0.05820	-0.783000	0.04534	-0.374000	0.07098	AGC	T|0.543;C|0.457		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		C	101925026	T	C	101925026	3	2	36	1	0	0	0	0	1	0	0	0	13495	1580	55	4	1205	4	RNF149	2	101925026	Missense_Mutation	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	56753184	101925026	141274347	11	8607											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	36	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	8447166	110372192	132827181	12	8608											
TTC21B	79809	bcgsc.ca	37	chr2	166773971	166773971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgagcttttatcaaatgGtataaaggatagtctctcac	8	7	3	1	rs6750044	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:166773971G>A	ENST00000243344.7	-	14	1832	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	565					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTATCAAATGGTATAAAGGAT	0.313													A|||	1461	0.291733	0.3094	0.2291	5008	,	,		17512	0.2014		0.3668	False		,,,				2504	0.3282				p.Y565Y		.											.	TTC21B-94	0			c.C1695T						.	A		1353,3053	688.4+/-405.0	210,933,1060	125	120	121		1695	3.5	1	2	dbSNP_116	121	3345,5253	642.6+/-399.8	636,2073,1590	no	coding-synonymous	TTC21B	NM_024753.3		846,3006,2650	AA,AG,GG		38.9044,30.7081,36.1273		565/1317	166773971	4698,8306	2203	4299	6502	SO:0001819	synonymous_variant	79809	exon14			CAAATGGTATAAA	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1695C>T	2.37:g.166773971G>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_024753	0	0	2	2	0	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	CCDS33315.1																																																																																			G|0.668;A|0.332		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		A	166773971	G	A	166773971	2	1	36	1	0	0	0	0	0	0	0	1	16737	1256	44	3		3	TTC21B	2	166773971	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	56401779	166773971	76425402	13	8609											
SCN9A	6335	hgsc.bcm.edu	37	chr2	167055351	167055351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcattaacattatcaaaaGccatatcttttttattgagt	3	7	3	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:167055351G>T	ENST00000409435.1	-	26	5797	c.5798C>A	c.(5797-5799)gCt>gAt	p.A1933D	SCN9A_ENST00000409672.1_Missense_Mutation_p.A1922D|SCN9A_ENST00000375387.4_Missense_Mutation_p.A1934D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1934D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1933					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTATCAAAAGCCATATCTTT	0.338																																					p.A1922D		.											.	SCN9A-181	0			c.C5765A						.						82	78	79					2																	167055351		1926	4142	6068	SO:0001583	missense	6335	exon27			TCAAAAGCCATAT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5798C>A	2.37:g.167055351G>T	ENSP00000386330:p.Ala1933Asp	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_002977	0	0	0	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	1.046	-0.677414	0.03378	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96073	-3.87;-3.9;-3.9;-3.9	6.06	-0.426	0.12314	.	0.449263	0.20964	N	0.082514	D	0.86053	0.5841	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.76094	-0.3085	10	0.56958	D	0.05	.	2.351	0.04283	0.5837:0.1156:0.1896:0.1111	.	1922	E7EUN6	.	D	1922;1934;1934;1933	ENSP00000386306:A1922D;ENSP00000364536:A1934D;ENSP00000304748:A1934D;ENSP00000386330:A1933D	ENSP00000304748:A1934D	A	-	2	0	SCN9A	166763597	0.000000	0.05858	0.582000	0.28627	0.002000	0.02628	0.012000	0.13287	-0.107000	0.12088	-2.238000	0.00288	GCT	.		0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055351	G	T	167055351	3	4	36	1	0	0	0	0	1	0	0	0	13970	971	34	3	172	3	SCN9A	2	167055351	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	281380	167055351	76144022	14	8610											
EFHD1	80303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233527635	233527635	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaggtggatgaggacttCgatggcaagctcagcttccg	15	8	1	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:233527635C>T	ENST00000264059.3	+	2	903	c.426C>T	c.(424-426)ttC>ttT	p.F142F	EFHD1_ENST00000409613.1_Silent_p.F46F|EFHD1_ENST00000409708.1_Silent_p.F30F|EFHD1_ENST00000410095.1_Silent_p.F30F	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	142	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		ATGAGGACTTCGATGGCAAGC	0.617																																					p.F142F		.											.	EFHD1-90	0			c.C426T						.						90	92	92					2																	233527635		2203	4300	6503	SO:0001819	synonymous_variant	80303	exon2			GGACTTCGATGGC		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.426C>T	2.37:g.233527635C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	86	66	NM_025202	0	0	0	1	1	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	CCDS2497.1																																																																																			.		0.617	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		T	233527635	C	T	233527635	2	4	36	1	0	0	0	0	0	0	0	1	4962	883	31	1		1	EFHD1	2	233527635	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	66472284	233527635	9671738	15	8611											
DGKD	8527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234354288	234354288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcagctgggagtgctgcCgctcggcacagggaacgact	16	11	1	0	rs139149715		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:234354288C>T	ENST00000264057.2	+	11	1226	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	DGKD_ENST00000409813.3_Missense_Mutation_p.P361L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	405	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGAGTGCTGCCGCTCGGCACA	0.652																																					p.P405L		.											.	DGKD-676	0			c.C1214T						.	C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	68	67	68		1082,1214	4.4	1	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DGKD	NM_003648.2,NM_152879.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	361/1171,405/1215	234354288	1,13005	2203	4300	6503	SO:0001583	missense	8527	exon11			TGCTGCCGCTCGG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1214C>T	2.37:g.234354288C>T	ENSP00000264057:p.Pro405Leu	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	136	85	NM_152879	0	0	0	0	0	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347233	0.61183	0.0	1.16E-4	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.69806	-0.43;-0.43	4.37	4.37	0.52481	Diacylglycerol kinase, catalytic domain (3);	0.079304	0.50627	D	0.000107	D	0.89371	0.6696	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.97110	1.0;0.455;1.0	D	0.93905	0.7192	10	0.87932	D	0	.	17.4856	0.87687	0.0:1.0:0.0:0.0	.	289;361;405	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	L	405;361	ENSP00000264057:P405L;ENSP00000386455:P361L	ENSP00000264057:P405L	P	+	2	0	DGKD	234019027	1.000000	0.71417	0.953000	0.39169	0.010000	0.07245	7.651000	0.83577	2.446000	0.82766	0.462000	0.41574	CCG	C|1.000;T|0.000		0.652	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234354288	C	T	234354288	3	4	36	1	0	0	0	0	1	0	0	0	4481	652	23	1	1280	1	DGKD	2	234354288	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	826653	234354288	8845085	16	8612											
ANO7	50636	broad.mit.edu	37	chr2	242141634	242141634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatcctggccaagacccCgtatggccacgagaagaaaa	11	11	0	4			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr2:242141634C>T	ENST00000274979.8	+	8	903	c.800C>T	c.(799-801)cCg>cTg	p.P267L	ANO7_ENST00000402430.3_Missense_Mutation_p.P266L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	267					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						GCCAAGACCCCGTATGGCCAC	0.597																																					p.P267L		.											.	ANO7-92	0			c.C800T						.						83	71	75					2																	242141634		2203	4300	6503	SO:0001583	missense	50636	exon8			AGACCCCGTATGG	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.800C>T	2.37:g.242141634C>T	ENSP00000274979:p.Pro267Leu	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	51	3	NM_001001891	0	0	0	0	0	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304559	0.23736	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.66460	-0.21;-0.21	3.77	0.398	0.16319	.	0.780921	0.10872	N	0.624763	T	0.57799	0.2078	M	0.65975	2.015	0.09310	N	0.999999	B	0.14438	0.01	B	0.08055	0.003	T	0.45963	-0.9225	10	0.27082	T	0.32	.	5.2553	0.15544	0.3042:0.5855:0.0:0.1102	.	267	Q6IWH7	ANO7_HUMAN	L	267;266	ENSP00000274979:P267L;ENSP00000385418:P266L	ENSP00000274979:P267L	P	+	2	0	ANO7	241790307	0.000000	0.05858	0.290000	0.24890	0.828000	0.46876	-0.173000	0.09854	0.575000	0.29434	0.467000	0.42956	CCG	.		0.597	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		T	242141634	C	T	242141634	3	4	36	1	0	0	0	0	1	0	0	0	702	652	23	1	902	1	ANO7	2	242141634	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	7787346	242141634	1057739	17	8613											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	4715944	4715944	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagatttgctcagaccatgGagtttgtggaggagtattta	13	4	1	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr3:4715944G>C	ENST00000443694.2	+	19	2470	c.2470G>C	c.(2470-2472)Gag>Cag	p.E824Q	ITPR1_ENST00000302640.8_Missense_Mutation_p.E824Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E839Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E839Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E839Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.E824Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	839					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)	TCAGACCATGGAGTTTGTGGA	0.363																																					p.E839Q		.											.	ITPR1-710	0			c.G2515C						.						159	151	153					3																	4715944		1831	4081	5912	SO:0001583	missense	3708	exon22			ACCATGGAGTTTG	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.2470G>C	3.37:g.4715944G>C	ENSP00000401671:p.Glu824Gln	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	69	29	NM_001099952	0	0	0	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208290	0.58343	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91011	-2.77;-2.76;-2.77;-2.77;-2.77;-2.77	5.5	5.5	0.81552	.	0.094233	0.64402	D	0.000001	D	0.85831	0.5788	N	0.17474	0.49	0.80722	D	1	B;B;B	0.21147	0.003;0.002;0.052	B;B;B	0.31442	0.011;0.004;0.13	T	0.79588	-0.1741	10	0.26408	T	0.33	.	19.6014	0.95563	0.0:0.0:1.0:0.0	.	824;839;839	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	839;824;839;839;839;824;824	ENSP00000306253:E824Q;ENSP00000346595:E839Q;ENSP00000405934:E839Q;ENSP00000349597:E839Q;ENSP00000397885:E824Q;ENSP00000401671:E824Q	ENSP00000306253:E824Q	E	+	1	0	ITPR1	4690944	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.173000	0.94815	2.854000	0.98071	0.655000	0.94253	GAG	.		0.363	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4715944	G	C	4715944	3	2	36	1	0	0	0	0	1	0	0	0	7947	1175	41	3	2593	3	ITPR1	3	4715944	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		4715944	193306486	18	8614											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	7	14	2	1	rs121913412		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.T41A	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	c.A121G						.						89	77	81					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GCCACTACCACAG	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	167	63	NM_001098209	0	0	28	51	23	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC	.		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		G	41266124	A	G	41266124	3	3	36	1	0	0	0	0	1	0	0	0	4025	391	14	4	127	4	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	36550180	41266124	156756306	19	8615											
CAMKV	79012	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	49898695	49898695	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcactgatgacaatcttCgagttcttcagccggttgta	9	9	4	2	rs200717131	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr3:49898695C>T	ENST00000477224.1	-	6	958	c.480G>A	c.(478-480)tcG>tcA	p.S160S	CAMKV_ENST00000488336.1_Silent_p.S160S|CAMKV_ENST00000466940.1_Silent_p.S117S|CAMKV_ENST00000498324.1_5'Flank|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000463537.1_Silent_p.S160S|CAMKV_ENST00000296471.7_Silent_p.S160S|CAMKV_ENST00000467248.1_Silent_p.S85S			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACAATCTTCGAGTTCTTCA	0.542													C|||	2	0.000399361	0	0.0014	5008	,	,		15382	0		0	False		,,,				2504	0.001				p.S160S		.											.	CAMKV-613	0			c.G480A						.	C		0,4406		0,0,2203	85	79	81		480	-10.8	0.1	3		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAMKV	NM_024046.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		160/502	49898695	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79012	exon6			AATCTTCGAGTTC	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.480G>A	3.37:g.49898695C>T		Somatic	96	2		WXS	Illumina GAIIx	Phase_I	101	28	NM_024046	0	0	0	0	0	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	CCDS33762.1																																																																																			C|1.000;T|0.000		0.542	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		T	49898695	C	T	49898695	2	4	36	1	0	0	0	0	0	0	0	1	2615	871	31	1		1	CAMKV	3	49898695	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	8632571	49898695	148123735	20	8616											
PHLDB2	90102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	111632246	111632246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttatctactgggaccacCgtggaagatgtgcagaaaat	11	9	1	2	rs112434778		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr3:111632246C>T	ENST00000431670.2	+	3	1827	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	PHLDB2_ENST00000477695.1_Silent_p.T472T|PHLDB2_ENST00000481953.1_Silent_p.T472T|PHLDB2_ENST00000412622.1_Silent_p.T472T|PHLDB2_ENST00000393925.3_Silent_p.T472T|PHLDB2_ENST00000393923.3_Silent_p.T499T|PHLDB2_ENST00000495180.1_Silent_p.T58T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	472						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.T472T(2)|p.T499T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGGACCACCGTGGAAGATG	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		19291	0		0	False		,,,				2504	0				p.T499T		.											.	PHLDB2-96	3	Substitution - coding silent(3)	lung(3)	c.C1497T						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	113	111	112		1497,1416,1416,1416	-5.1	0.8	3	dbSNP_132	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	499/1238,472/1254,472/1254,472/1211	111632246	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90102	exon4			GACCACCGTGGAA		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.1416C>T	3.37:g.111632246C>T		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	73	23	NM_001134437	0	0	1	1	0	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	CCDS46886.1																																																																																			C|0.998;T|0.002		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		T	111632246	C	T	111632246	2	4	36	1	0	0	0	0	0	0	0	1	11891	639	23	1		1	PHLDB2	3	111632246	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	61733551	111632246	86390184	21	8617											
PRR23A	729627	hgsc.bcm.edu	37	chr3	138725072	138725072	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgtccccaccagggCgcagggaaggcgctggggct	18	13	0	0	rs185399823	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr3:138725072C>A	ENST00000383163.2	-	1	38	c.39G>T	c.(37-39)gcG>gcT	p.A13A	MRPS22_ENST00000495075.1_Intron	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	13										endometrium(3)|kidney(1)|lung(7)	11						CCCACCAGGGCGCAGGGAAGG	0.736													C|||	4	0.000798722	0	0	5008	,	,		11959	0		0.004	False		,,,				2504	0				p.A13A		.											.	.	0			c.G39T						.																																			SO:0001819	synonymous_variant	729627	exon1			CCAGGGCGCAGGG		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.39G>T	3.37:g.138725072C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_001134659	0	0	0	0	0		Silent	SNP	ENST00000383163.2	37	CCDS46923.1																																																																																			C|0.998;A|0.002		0.736	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138725072	C	A	138725072	2	1	36	1	0	0	0	0	0	0	0	1	12636	755	27	2		2	PRR23A	3	138725072	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	27092826	138725072	59297358	22	8618											
ZNF141	7700	bcgsc.ca	37	chr4	367169	367169	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaaccctacaaatgtgaaGaatgtggcaaagcctttaat	8	7	0	3	rs145966198		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:367169G>A	ENST00000240499.7	+	4	1092	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	315					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						CAAATGTGAAGAATGTGGCAA	0.388																																					p.E315K		.											.	ZNF141-90	0			c.G943A						.																																			SO:0001583	missense	7700	exon4			TGTGAAGAATGTG	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.943G>A	4.37:g.367169G>A	ENSP00000240499:p.Glu315Lys	Somatic	54	1		WXS	Illumina GAIIx	Phase_I	61	13	NM_003441	0	0	28	43	15	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327325	0.41197	.	.	ENSG00000131127	ENST00000240499	T	0.07327	3.2	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	L	0.42487	1.325	0.80722	P	0.0	P	0.39624	0.681	P	0.51833	0.681	T	0.18871	-1.0323	7	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	315	Q15928	ZN141_HUMAN	K	315	ENSP00000240499:E315K	.	E	+	1	0	ZNF141	357169	0.000000	0.05858	0.076000	0.20297	0.968000	0.65278	-0.068000	0.11561	0.591000	0.29711	0.313000	0.20887	GAA	.		0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367169	G	A	367169	3	1	36	1	0	0	0	0	1	0	0	0	17778	943	33	3	957	3	ZNF141	4	367169	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		367169	190787107	23	8619											
ZNF141	7700	bcgsc.ca	37	chr4	367199	367199	+	Missense_Mutation	SNP	A	A	T													aagcctttaataggtccacaAcccttactaaacataagaga					rs114931928		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:367199A>T	ENST00000240499.7	+	4	1122	c.973A>T	c.(973-975)Acc>Tcc	p.T325S	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					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						TAGGTCCACAACCCTTACTAA	0.383																																					p.T325S		.											.	ZNF141-90	0			c.A973T						.						56	62	60					4																	367199		2197	4296	6493	SO:0001583	missense	7700	exon4			TCCACAACCCTTA	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.973A>T	4.37:g.367199A>T	ENSP00000240499:p.Thr325Ser	Somatic	33	1		WXS	Illumina GAIIx	Phase_I	52	17	NM_003441	0	0	0	0	0	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	3.741	-0.053524	0.07362	.	.	ENSG00000131127	ENST00000240499	T	0.07216	3.21	1.24	-0.0286	0.13921	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.04636	-0.2	0.09310	N	1	B	0.19200	0.034	B	0.22152	0.038	T	0.47995	-0.9073	8	.	.	.	.	4.1736	0.10341	0.7434:0.0:0.2566:0.0	.	325	Q15928	ZN141_HUMAN	S	325	ENSP00000240499:T325S	.	T	+	1	0	ZNF141	357199	0.000000	0.05858	0.216000	0.23742	0.983000	0.72400	-6.049000	0.00083	0.495000	0.27882	0.260000	0.18958	ACC	A|0.881;T|0.119		0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		T	367199	A	T	367199	3	4	36	1	0	0	0	0	1	0	0	0	17778	43	2	5	987	5	ZNF141	4	367199	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	30	367199	190787077	24	8620	74	3									
ZNF141	7700	bcgsc.ca	37	chr4	367201	367201	+	Silent	SNP	C	C	A													gcctttaataggtccacaacCcttactaaacataagagaat					rs111394409		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:367201C>A	ENST00000240499.7	+	4	1124	c.975C>A	c.(973-975)acC>acA	p.T325T	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	325					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						GGTCCACAACCCTTACTAAAC	0.383																																					p.T325T		.											.	ZNF141-90	0			c.C975A						.						56	61	59					4																	367201		2198	4296	6494	SO:0001819	synonymous_variant	7700	exon4			CACAACCCTTACT	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.975C>A	4.37:g.367201C>A		Somatic	33	1		WXS	Illumina GAIIx	Phase_I	52	17	NM_003441	0	0	0	0	0	Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																			A|1.000;|0.000		0.383	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367201	C	A	367201	2	1	36	1	0	0	0	0	0	0	0	1	17778	610	22	3		3	ZNF141	4	367201	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	2	367201	190787075	25	8621	74	3									
ZNF141	7700	bcgsc.ca	37	chr4	367206	367206	+	Missense_Mutation	SNP	C	C	G													taataggtccacaacccttaCtaaacataagagaattcata					rs113884485		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:367206C>G	ENST00000240499.7	+	4	1129	c.980C>G	c.(979-981)aCt>aGt	p.T327S	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	327					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						ACAACCCTTACTAAACATAAG	0.378																																					p.T327S		.											.	ZNF141-90	0			c.C980G						.						53	58	56					4																	367206		2200	4295	6495	SO:0001583	missense	7700	exon4			CCCTTACTAAACA	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.980C>G	4.37:g.367206C>G	ENSP00000240499:p.Thr327Ser	Somatic	33	1		WXS	Illumina GAIIx	Phase_I	51	17	NM_003441	0	0	0	0	0	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468247	0.26335	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14700	0.0355	N	0.10733	0.035	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27502	-1.0072	8	.	.	.	.	3.3488	0.07145	0.0:0.4599:0.0:0.5401	.	327	Q15928	ZN141_HUMAN	S	327	ENSP00000240499:T327S	.	T	+	2	0	ZNF141	357206	0.000000	0.05858	0.576000	0.28549	0.982000	0.71751	-2.477000	0.00985	0.591000	0.29711	0.313000	0.20887	ACT	G|1.000;|0.000		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	367206	C	G	367206	3	3	36	1	0	0	0	0	1	0	0	0	17778	565	20	3	994	3	ZNF141	4	367206	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	5	367206	190787070	26	8622	74	3									
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	50	3		WXS	Illumina GAIIx	Phase_I	224	87	NM_000203	0	0	10	15	5	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	36	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	628998	996204	190158072	27	8623											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_175918	0	0	19	31	12	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	36	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	392770	1388974	189765302	28	8624											
HTRA3	94031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	8293291	8293291	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacggatgccatcatcaaCgtgagtcccagggacaggag	13	11	2	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:8293291C>T	ENST00000307358.2	+	4	1107	c.903C>T	c.(901-903)aaC>aaT	p.N301N	HTRA3_ENST00000382512.3_Splice_Site_p.N301N	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	301	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CCATCATCAACGTGAGTCCCA	0.652																																					p.N301N		.											.	HTRA3-91	0			c.C903T						.						24	22	22					4																	8293291		2198	4297	6495	SO:0001630	splice_region_variant	94031	exon4			CATCAACGTGAGT	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.903+1C>T	4.37:g.8293291C>T		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	128	51	NM_053044	0	0	0	0	0	Q7Z7A2	Silent	SNP	ENST00000307358.2	37	CCDS3400.1																																																																																			.		0.652	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044	Silent	T	8293291	C	T	8293291	5	4	36	1	0	0	0	0	0	0	1	0	7482	550	19	1	917	1	HTRA3	4	8293291	Splice_Site	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	6904317	8293291	182860985	29	8625											
NR3C2	4306	broad.mit.edu	37	chr4	149356630	149356630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataatagtctttatcatcCataaaggaaaaatacgagcc	6	7	2	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr4:149356630C>T	ENST00000358102.3	-	2	1745	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NR3C2_ENST00000512865.1_Missense_Mutation_p.M461I|NR3C2_ENST00000344721.4_Missense_Mutation_p.M461I|NR3C2_ENST00000355292.3_Missense_Mutation_p.M461I|NR3C2_ENST00000511528.1_Missense_Mutation_p.M461I	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	461	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTTTATCATCCATAAAGGAAA	0.423																																					p.M461I	Melanoma(27;428 957 40335 51025 51111)	.											.	NR3C2-154	0			c.G1383A						.						61	60	60					4																	149356630		2203	4300	6503	SO:0001583	missense	4306	exon2			ATCATCCATAAAG	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1383G>A	4.37:g.149356630C>T	ENSP00000350815:p.Met461Ile	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	41	3	NM_001166104	0	0	1	1	0	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181063	0.38511	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90004	-2.59;-2.6;-2.59;-2.2;-2.2;-2.6	5.4	5.4	0.78164	.	0.035654	0.85682	D	0.000000	D	0.86611	0.5974	N	0.24115	0.695	0.51233	D	0.999914	D;D	0.60575	0.967;0.988	B;P	0.49887	0.437;0.625	D	0.85314	0.1080	9	.	.	.	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	461;461	B0ZBF5;B0ZBF6	.;.	I	461	ENSP00000341390:M461I;ENSP00000347441:M461I;ENSP00000350815:M461I;ENSP00000423510:M461I;ENSP00000343907:M461I;ENSP00000421481:M461I	.	M	-	3	0	NR3C2	149576080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.681000	0.68175	2.681000	0.91329	0.655000	0.94253	ATG	.		0.423	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			T	149356630	C	T	149356630	3	4	36	1	0	0	0	0	1	0	0	0	10670	594	21	3	1603	3	NR3C2	4	149356630	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	141063339	149356630	41797646	30	8626											
EGFLAM	133584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	38435283	38435283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacagacattttcattggCggagtccccaattatgatga	8	9	1	3			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr5:38435283C>T	ENST00000354891.3	+	16	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_ENST00000336740.6_Silent_p.G503G|EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000322350.5_Silent_p.G737G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	737	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					TTTTCATTGGCGGAGTCCCCA	0.423																																					p.G737G	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.C2211T						.						108	107	107					5																	38435283		2203	4300	6503	SO:0001819	synonymous_variant	133584	exon16			CATTGGCGGAGTC	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.2211C>T	5.37:g.38435283C>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	97	7	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																			.		0.423	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		T	38435283	C	T	38435283	2	4	36	1	0	0	0	0	0	0	0	1	4980	755	27	1		1	EGFLAM	5	38435283	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		38435283	142479977	31	8627											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	36	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	93714401	132149684	48765576	32	8628											
NRG2	9542	hgsc.bcm.edu	37	chr5	139227532	139227532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagtcctgcttggcccgCgggggcggcccgcggctgtg	19	15	0	0	rs373462739	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr5:139227532C>T	ENST00000361474.1	-	10	2747	c.2523G>A	c.(2521-2523)ccG>ccA	p.P841P	NRG2_ENST00000545385.1_Silent_p.P843P|NRG2_ENST00000541337.1_Silent_p.P775P|NRG2_ENST00000358522.3_Silent_p.P843P|NRG2_ENST00000289409.4_Silent_p.P835P|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Silent_p.P638P|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Silent_p.P849P	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	841					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTggcccgcgggggcggcc	0.721													C|||	41	0.0081869	0	0.0418	5008	,	,		4075	0.004		0.006	False		,,,				2504	0.002				p.P849P		.											.	NRG2-526	0			c.G2547A						.						2	2	2					5																	139227532		1135	2073	3208	SO:0001819	synonymous_variant	9542	exon11			GGCCCGCGGGGGC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.2523G>A	5.37:g.139227532C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	8	NM_013982	0	0	0	1	1		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																			.		0.721	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139227532	C	T	139227532	2	4	36	1	0	0	0	0	0	0	0	1	10687	755	27	1		1	NRG2	5	139227532	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	7077848	139227532	41687728	33	8629											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	36	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	36565073	175792605	5122655	34	8630											
BTNL9	153579	hgsc.bcm.edu	37	chr5	180486404	180486404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggttctccgccggccgcCactactgggaggtgcacgtg	15	14	1	0	rs186444058	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr5:180486404C>T	ENST00000327705.9	+	11	1381	c.1150C>T	c.(1150-1152)Cac>Tac	p.H384Y	BTNL9_ENST00000376842.3_Missense_Mutation_p.H385Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCGGCCGCCACTACTGGGA	0.796													C|||	19	0.00379393	0	0.0101	5008	,	,		8064	0		0.0089	False		,,,				2504	0.0031				p.H384Y		.											.	BTNL9-91	0			c.C1150T						.						1	2	1					5																	180486404		836	1977	2813	SO:0001583	missense	153579	exon11			GGCCGCCACTACT	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.1150C>T	5.37:g.180486404C>T	ENSP00000330200:p.His384Tyr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	16	NM_152547	0	0	0	0	0	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	38	0.0173992673992674	7	0.014227642276422764	5	0.013812154696132596	5	0.008741258741258742	21	0.027704485488126648	c	21.1	4.096472	0.76870	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.68479	-0.33;-0.33	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.217602	0.23321	U	0.049449	T	0.65575	0.2704	M	0.76938	2.355	0.30133	N	0.804617	B	0.28233	0.204	P	0.55615	0.78	T	0.75714	-0.3221	10	0.48119	T	0.1	.	15.5784	0.76410	0.0:1.0:0.0:0.0	.	384	Q6UXG8	BTNL9_HUMAN	Y	384;385	ENSP00000330200:H384Y;ENSP00000366038:H385Y	ENSP00000330200:H384Y	H	+	1	0	BTNL9	180419010	0.959000	0.32827	1.000000	0.80357	0.530000	0.34684	2.310000	0.43708	2.365000	0.80145	0.298000	0.19748	CAC	C|0.983;T|0.017		0.796	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180486404	C	T	180486404	3	4	36	1	0	0	0	0	1	0	0	0	1572	594	21	3	1188	3	BTNL9	5	180486404	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	4693799	180486404	428856	35	8631											
MUC21	394263	bcgsc.ca	37	chr6	30954298	30954298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccagcacaacctccagtGgggccagcacagccaccaac	9	17	0	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:30954298G>A	ENST00000376296.3	+	2	587	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	116	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						AACCTCCAGTGGGGCCAGCAC	0.597																																					p.G116R		.											.	MUC21-92	0			c.G346A						.						182	167	172					6																	30954298		2203	4300	6503	SO:0001583	missense	394263	exon2			TCCAGTGGGGCCA	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.346G>A	6.37:g.30954298G>A	ENSP00000365473:p.Gly116Arg	Somatic	318	6		WXS	Illumina GAIIx	Phase_I	278	16	NM_001010909	0	0	0	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403136	0.25291	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03065	4.06	3.34	-2.49	0.06403	.	.	.	.	.	T	0.00724	0.0024	L	0.27053	0.805	0.09310	N	1	B	0.23891	0.093	B	0.20184	0.028	T	0.46938	-0.9155	8	.	.	.	.	3.8039	0.08768	0.2867:0.0:0.4337:0.2796	.	116	Q5SSG8	MUC21_HUMAN	R	116	ENSP00000365473:G116R	.	G	+	1	0	MUC21	31062277	0.077000	0.21312	0.000000	0.03702	0.005000	0.04900	1.890000	0.39728	-0.305000	0.08831	-0.714000	0.03626	GGG	.		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954298	G	A	30954298	3	1	36	1	0	0	0	0	1	0	0	0	10015	1348	47	3	352	3	MUC21	6	30954298	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		30954298	140160769	36	8632											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000287	0	0	0	1	1	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	36	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	11992192	42946490	128168577	37	8633											
GJA1	2697	broad.mit.edu	37	chr6	121768897	121768897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcttgccgcaattacAacaagcaagcaagtgagcaa	7	10	2	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:121768897A>G	ENST00000282561.3	+	2	1061	c.904A>G	c.(904-906)Aac>Gac	p.N302D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	302					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)	CCGCAATTACAACAAGCAAGC	0.512																																					p.N302D		.											.	GJA1-92	0			c.A904G						.						77	76	77					6																	121768897		2203	4300	6503	SO:0001583	missense	2697	exon2			AATTACAACAAGC	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.904A>G	6.37:g.121768897A>G	ENSP00000282561:p.Asn302Asp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	68	5	NM_000165	0	0	30	30	0	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084194	0.36758	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.82526	-1.62	5.08	5.08	0.68730	Gap junction alpha-1 protein (Cx43), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.29908	0.895	0.54753	D	0.999984	B	0.09022	0.002	B	0.19666	0.026	T	0.65055	-0.6261	10	0.41790	T	0.15	.	14.189	0.65625	1.0:0.0:0.0:0.0	.	302	P17302	CXA1_HUMAN	D	286;302	ENSP00000282561:N302D	ENSP00000282561:N302D	N	+	1	0	GJA1	121810596	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	8.709000	0.91379	2.131000	0.65755	0.477000	0.44152	AAC	.		0.512	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		G	121768897	A	G	121768897	3	3	36	1	0	0	0	0	1	0	0	0	6426	130	5	4	906	4	GJA1	6	121768897	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	78822407	121768897	49346170	38	8634											
CTGF	1490	hgsc.bcm.edu	37	chr6	132271952	132271952	+	Missense_Mutation	SNP	G	G	C													gttggccggggagccgaagtGacagaataggcccttgtgcg					rs7451102		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:132271952G>C	ENST00000367976.3	-	2	447	c.247C>G	c.(247-249)Cac>Gac	p.H83D	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	83	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.		H -> D (in dbSNP:rs7451102). {ECO:0000269|PubMed:1293144, ECO:0000269|PubMed:1654338, ECO:0000269|PubMed:9054739, ECO:0000269|Ref.12, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GAGCCGAAGTGACAGAATAGG	0.711													C|||	5007	0.9998	1	1	5008	,	,		8487	1		0.999	False		,,,				2504	1				p.H83D	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.C247G						.						7	8	7					6																	132271952		2119	4187	6306	SO:0001583	missense	1490	exon2			CGAAGTGACAGAA	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.247C>G	6.37:g.132271952G>C	ENSP00000356954:p.His83Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	2184	1.0	492	1.0	362	1.0	572	1.0	758	1.0	C	8.018	0.758919	0.15846	.	.	ENSG00000118523	ENST00000367976	T	0.62232	0.04	5.28	5.28	0.74379	Insulin-like growth factor-binding protein, IGFBP (2);	0.048665	0.85682	N	0.000000	T	0.06781	0.0173	N	0.00042	-2.475	0.40675	P	0.017750000000000044	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.02654	T	1	.	15.7931	0.78384	0.0:0.863:0.137:0.0	rs7451102;rs59294435	83	P29279	CTGF_HUMAN	D	83	ENSP00000356954:H83D	ENSP00000356954:H83D	H	-	1	0	CTGF	132313645	1.000000	0.71417	0.923000	0.36655	0.645000	0.38454	4.000000	0.57039	1.236000	0.43740	-0.293000	0.09583	CAC	G|0.000;C|1.000		0.711	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		C	132271952	G	C	132271952	3	2	36	1	0	0	0	0	1	0	0	0	4017	1290	45	3	818	3	CTGF	6	132271952	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	10503055	132271952	38843115	39	8635	75	2	1	40		3	2	29	N	T_G	9.677559e-05
CTGF	1490	hgsc.bcm.edu	37	chr6	132271959	132271959	+	Silent	SNP	T	T	G													ggggagccgaagtgacagaaTaggcccttgtgcgggtcgca					rs12206231		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:132271959T>G	ENST00000367976.3	-	2	440	c.240A>C	c.(238-240)ctA>ctC	p.L80L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		AGTGACAGAATAGGCCCTTGT	0.701													G|||	5008	1	1	1	5008	,	,		8368	1		1	False		,,,				2504	1				p.L80L	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A240C						.						7	8	7					6																	132271959		2127	4192	6319	SO:0001819	synonymous_variant	1490	exon2			ACAGAATAGGCCC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.240A>C	6.37:g.132271959T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.701	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271959	T	G	132271959	2	3	36	1	0	0	0	0	0	0	0	1	4017	1393	49	5		5	CTGF	6	132271959	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	7	132271959	38843108	40	8636	75	2	1	40		3	2	29	N	T_G	9.677559e-05
CTGF	1490	hgsc.bcm.edu	37	chr6	132271980	132271980	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag	17	12	0	0	rs6934749		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr6:132271980T>G	ENST00000367976.3	-	2	419	c.219A>C	c.(217-219)ccA>ccC	p.P73P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													G|||	5008	1	1	1	5008	,	,		7576	1		1	False		,,,				2504	1				p.P73P	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A219C						.						6	8	7					6																	132271980		2100	4127	6227	SO:0001819	synonymous_variant	1490	exon2			GTCGCATGGGTCG	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.219A>C	6.37:g.132271980T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001901	0	0	0	1	1	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271980	T	G	132271980	2	3	36	1	0	0	0	0	0	0	0	1	4017	1451	51	5		5	CTGF	6	132271980	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	21	132271980	38843087	41	8637			1	40		3	2	29	N	T_G	9.677559e-05
SPAM1	6677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	123599735	123599735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgagaaaggtggaaaGttcacagtacgtggaaaacc	11	7	1	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr7:123599735G>A	ENST00000439500.1	+	6	1855	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	SPAM1_ENST00000402183.2_Silent_p.K414K|SPAM1_ENST00000340011.5_Silent_p.K414K|SPAM1_ENST00000460182.1_Silent_p.K414K|SPAM1_ENST00000223028.7_Silent_p.K414K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	414					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGTGGAAAGTTCACAGTAC	0.403																																					p.K414K		.											.	SPAM1-94	0			c.G1242A						.						106	102	103					7																	123599735		2203	4300	6503	SO:0001819	synonymous_variant	6677	exon5			TGGAAAGTTCACA	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1242G>A	7.37:g.123599735G>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	77	12	NM_153189	0	0	0	0	0	Q8TC30	Silent	SNP	ENST00000439500.1	37	CCDS5791.1																																																																																			.		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123599735	G	A	123599735	2	1	36	1	0	0	0	0	0	0	0	1	15033	1020	36	3		3	SPAM1	7	123599735	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		123599735	35538928	42	8638											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10468989	10468989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctttggtggctgctgccGgtgctcccacagctggaaga	15	11	0	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr8:10468989G>A	ENST00000382483.3	-	4	2842	c.2619C>T	c.(2617-2619)acC>acT	p.T873T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	873					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCTGCTGCCGGTGCTCCCAC	0.736																																					p.T873T		.											.	RP1L1-139	0			c.C2619T						.						3	5	4					8																	10468989		1667	3758	5425	SO:0001819	synonymous_variant	94137	exon4			GCTGCCGGTGCTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2619C>T	8.37:g.10468989G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	22	13	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			.		0.736	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10468989	G	A	10468989	2	1	36	1	0	0	0	0	0	0	0	1	13578	1103	39	1		1	RP1L1	8	10468989	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		10468989	135895033	43	8639											
PCMTD1	115294	bcgsc.ca	37	chr8	52733110	52733110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggaataagctgattaCccacaaatacgtaagtgtta	9	7	0	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr8:52733110C>T	ENST00000360540.5	-	7	1281	c.875G>A	c.(874-876)gGt>gAt	p.G292D	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G292D|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G216D	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	292						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTGATTACCCACAAATAC	0.398																																					p.G292D		.											.	PCMTD1-68	0			c.G875A						.						192	187	189					8																	52733110		2203	4300	6503	SO:0001583	missense	115294	exon6			TGATTACCCACAA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.875G>A	8.37:g.52733110C>T	ENSP00000353739:p.Gly292Asp	Somatic	222	3		WXS	Illumina GAIIx	Phase_I	242	22	NM_052937	0	0	10	10	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501676	0.64298	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	N	0.25485	0.75	0.80722	D	1	D;D;B	0.89917	0.976;1.0;0.004	P;D;B	0.97110	0.661;1.0;0.006	T	0.26258	-1.0108	10	0.08381	T	0.77	-32.1559	20.4239	0.99064	0.0:1.0:0.0:0.0	.	162;216;292	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	D	292;216;292	ENSP00000353739:G292D;ENSP00000444026:G216D;ENSP00000428099:G292D	ENSP00000353739:G292D	G	-	2	0	PCMTD1	52895663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.046000	0.76592	2.828000	0.97474	0.655000	0.94253	GGT	.		0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52733110	C	T	52733110	3	4	36	1	0	0	0	0	1	0	0	0	11625	507	18	3	202	3	PCMTD1	8	52733110	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	42264121	52733110	93630912	44	8640											
PCMTD1	115294	bcgsc.ca	37	chr8	52733144	52733144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgttaattctctgtttaaCtctctttcttttccttttgg	5	8	3	0	rs200246241		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr8:52733144C>T	ENST00000360540.5	-	7	1247	c.841G>A	c.(841-843)Gtt>Att	p.V281I	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281I|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTCTGTTTAACTCTCTTTCTT	0.393																																					p.V281I		.											.	PCMTD1-68	0			c.G841A						.																																			SO:0001583	missense	115294	exon6			GTTTAACTCTCTT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.841G>A	8.37:g.52733144C>T	ENSP00000353739:p.Val281Ile	Somatic	247	3		WXS	Illumina GAIIx	Phase_I	277	30	NM_052937	0	0	5	5	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803545	0.31869	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46451	0.87;0.87;0.87	5.97	5.97	0.96955	.	0.260164	0.36972	N	0.002316	T	0.37128	0.0992	L	0.42245	1.32	0.27985	N	0.935891	B;B;B	0.32467	0.039;0.372;0.001	B;B;B	0.35770	0.024;0.21;0.002	T	0.27905	-1.0060	10	0.21540	T	0.41	-33.7683	13.3218	0.60436	0.2592:0.7408:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	281;205;281	ENSP00000353739:V281I;ENSP00000444026:V205I;ENSP00000428099:V281I	ENSP00000353739:V281I	V	-	1	0	PCMTD1	52895697	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.921000	0.70028	2.828000	0.97474	0.655000	0.94253	GTT	.		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52733144	C	T	52733144	3	4	36	1	0	0	0	0	1	0	0	0	11625	565	20	3	236	3	PCMTD1	8	52733144	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	34	52733144	93630878	45	8641											
NSMAF	8439	hgsc.bcm.edu	37	chr8	59571856	59571856	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggacctgcactgccggAtagctcggcatgcctcggct	14	15	0	0	rs59606339	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr8:59571856A>C	ENST00000038176.3	-	1	272				snoU13_ENST00000459488.1_RNA|NSMAF_ENST00000427130.2_Missense_Mutation_p.I17S	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCACTGCCGGATAGCTCGGCA	0.761													C|||	1348	0.269169	0.4697	0.1037	5008	,	,		10863	0.497		0.0467	False		,,,				2504	0.1094				p.I17S		.											.	NSMAF-91	0			c.T50G						.						4	7	6					8																	59571856		613	1513	2126	SO:0001627	intron_variant	8439	exon1			TGCCGGATAGCTC	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.59+275T>G	8.37:g.59571856A>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	4	NM_001144772	0	0	0	0	0	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	496	0.2271062271062271	186	0.3780487804878049	31	0.0856353591160221	244	0.42657342657342656	35	0.04617414248021108	C	0.151	-1.090991	0.01858	.	.	ENSG00000035681	ENST00000427130	T	0.55413	0.52	1.89	-0.128	0.13506	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45308	-0.9270	6	.	.	.	.	0.796	0.01066	0.2394:0.3623:0.2355:0.1628	rs59606339	17	Q92636-2	.	S	17	ENSP00000411012:I17S	.	I	-	2	0	NSMAF	59734410	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.459000	0.21908	-0.396000	0.07703	-0.358000	0.07595	ATC	A|0.754;C|0.246		0.761	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		C	59571856	A	C	59571856	1	2	36	0	1	0	0	0	0	0	0	0	10713	333	12	5		5	NSMAF	8	59571856	Intron	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	6838712	59571856	86792166	46	8642											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000436759.2_Silent_p.A1996A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_201380	0	0	4	5	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	36	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	85426334	144998190	1365832	47	8643											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_024896	0	0	0	3	3	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	36	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		5832728	135380703	48	8644											
OBP2B	29989	bcgsc.ca	37	chr9	136081319	136081319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctagtgttcgggaaCgcagcttcctgcagagacca	10	14	1	1	rs11244035	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr9:136081319C>T	ENST00000372034.3	-	6	540	c.499G>A	c.(499-501)Gtt>Att	p.V167I	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	167			V -> I (in dbSNP:rs11244035).		chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TGTTCGGGAACGCAGCTTCCT	0.627													C|||	209	0.0417332	0.0098	0.072	5008	,	,		17199	0.002		0.1143	False		,,,				2504	0.0297				p.V167I		.											.	OBP2B-68	0			c.G499A						.	C	ILE/VAL	122,4284	91.1+/-129.8	2,118,2083	190	173	179		499	-3.3	0	9	dbSNP_120	179	883,7717	197.1+/-241.8	26,831,3443	no	missense	OBP2B	NM_014581.2	29	28,949,5526	TT,TC,CC		10.2674,2.769,7.7272	benign	167/171	136081319	1005,12001	2203	4300	6503	SO:0001583	missense	29989	exon6			CGGGAACGCAGCT	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.499G>A	9.37:g.136081319C>T	ENSP00000361104:p.Val167Ile	Somatic	177	1		WXS	Illumina GAIIx	Phase_I	176	8	NM_014581	0	0	0	0	0	Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	CCDS6961.1	111	0.050824175824175824	8	0.016260162601626018	23	0.06353591160220995	0	0.0	80	0.10554089709762533	C	0.261	-0.999515	0.02128	0.02769	0.102674	ENSG00000171102	ENST00000372034	T	0.13307	2.6	1.64	-3.29	0.05017	Calycin-like (1);	3.990570	0.01469	N	0.016193	T	0.00144	0.0004	N	0.11313	0.125	0.80722	P	0.0	B	0.25312	0.123	B	0.15870	0.014	T	0.25152	-1.0140	9	0.11182	T	0.66	5.7215	4.1974	0.10450	0.162:0.3804:0.0:0.4576	rs11244035;rs17359368;rs11244035	167	Q9NPH6	OBP2B_HUMAN	I	167	ENSP00000361104:V167I	ENSP00000361104:V167I	V	-	1	0	OBP2B	135071140	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.055000	0.03493	-1.541000	0.01727	-1.281000	0.01382	GTT	C|0.932;T|0.068		0.627	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		T	136081319	C	T	136081319	3	4	36	1	0	0	0	0	1	0	0	0	10850	536	19	1	17	1	OBP2B	9	136081319	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	130248591	136081319	5132112	49	8645											
C10orf47	254427	hgsc.bcm.edu	37	chr10	11912144	11912144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcttcccaagtgcgcaCgaggccctgaagagcgcacc	12	15	0	2	rs17851505	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr10:11912144C>T	ENST00000277570.5	+	4	1201	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	PROSER2_ENST00000379200.1_Silent_p.H153H|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	349																	CAAGTGCGCACGAGGCCCTGA	0.766													C|||	360	0.071885	0.0923	0.049	5008	,	,		5950	0.001		0.0805	False		,,,				2504	0.1247				p.H349H		.											.	.	0			c.C1047T						.	C		209,2543		3,203,1170	2	3	2		1047	-2.8	0.7	10	dbSNP_123	2	285,5043		6,273,2385	no	coding-synonymous	C10orf47	NM_153256.3		9,476,3555	TT,TC,CC		5.3491,7.5945,6.1139		349/436	11912144	494,7586	1376	2664	4040	SO:0001819	synonymous_variant	254427	exon4			TGCGCACGAGGCC	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1047C>T	10.37:g.11912144C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_153256	0	0	0	0	0	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	CCDS7085.1																																																																																			C|0.932;T|0.068		0.766	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		T	11912144	C	T	11912144	2	4	36	1	0	0	0	0	0	0	0	1	1610	535	19	1		1	C10orf47	10	11912144	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		11912144	123622603	50	8646											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	7	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	36	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	35088073	47000217	88534530	51	8647											
MUC6	4588	bcgsc.ca	37	chr11	1017249	1017249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatgaccgtgtgagtaCttggagtcaccaaggaggtg	16	6	1	3			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:1017249C>T	ENST00000421673.2	-	31	5602	c.5552G>A	c.(5551-5553)aGt>aAt	p.S1851N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1851	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTGTGAGTACTTGGAGTCAC	0.542																																					p.S1851N		.											.	MUC6-23	0			c.G5552A						.																																			SO:0001583	missense	4588	exon31			TGAGTACTTGGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5552G>A	11.37:g.1017249C>T	ENSP00000406861:p.Ser1851Asn	Somatic	1009	23		WXS	Illumina GAIIx	Phase_I	931	52	NM_005961	0	0	0	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	4.088	0.014305	0.07959	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	2.55	-0.458	0.12182	.	.	.	.	.	T	0.20901	0.0503	L	0.53249	1.67	0.09310	N	1	B	0.28128	0.201	B	0.38428	0.273	T	0.43410	-0.9393	9	0.15066	T	0.55	.	7.3143	0.26491	0.0:0.3432:0.4818:0.175	.	1851	Q6W4X9	MUC6_HUMAN	N	1851	ENSP00000406861:S1851N	ENSP00000406861:S1851N	S	-	2	0	MUC6	1007249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.083000	0.12618	-3.978000	0.00014	AGT	.		0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017249	C	T	1017249	3	4	36	1	0	0	0	0	1	0	0	0	10018	565	20	3	1779	3	MUC6	11	1017249	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		1017249	133989267	52	8648											
MUC2	4583	hgsc.bcm.edu	37	chr11	1093204	1093204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggcacacagtccccaaccCcaacagccatcaccaccacc	4	23	1	0	rs56299570		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:1093204C>A	ENST00000441003.2	+	30	5050	c.5023C>A	c.(5023-5025)Cca>Aca	p.P1675T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1642T|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1675T(1)|p.P1642T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gtccccaaccccaacagccat	0.627																																					p.P1675T		.											.	MUC2-90	2	Substitution - Missense(2)	kidney(2)	c.C5023A						.																																			SO:0001583	missense	4583	exon30			CCAACCCCAACAG	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.5023C>A	11.37:g.1093204C>A	ENSP00000415183:p.Pro1675Thr	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.954	-0.705464	0.03255	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.09073	3.02;3.53	1.75	-3.49	0.04724	.	0.575351	0.10542	U	0.662513	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.16896	T	0.51	.	6.9769	0.24681	0.6778:0.3222:0.0:0.0	rs56299570	1675	E7EUV1	.	T	1675;1642	ENSP00000415183:P1675T;ENSP00000351956:P1642T	ENSP00000351956:P1642T	P	+	1	0	MUC2	1083204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.268000	0.00533	-1.450000	0.01936	0.184000	0.17185	CCA	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093204	C	A	1093204	3	1	36	1	0	0	0	0	1	0	0	0	10013	623	22	3	5141	3	MUC2	11	1093204	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	75955	1093204	133913312	53	8649											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1250946	1250946	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgacatcacgcacTctggctgcctgcccctcggg	12	15	2	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:1250946T>A	ENST00000529681.1	+	10	1187	c.1129T>A	c.(1129-1131)Tct>Act	p.S377T	MUC5B_ENST00000531082.1_3'UTR|MUC5B_ENST00000447027.1_Missense_Mutation_p.S380T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	377	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCACGCACTCTGGCTGCCT	0.692																																					p.S377T		.											.	.	0			c.T1129A						.						14	17	16					11																	1250946		2121	4213	6334	SO:0001583	missense	727897	exon10			ACGCACTCTGGCT	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.1129T>A	11.37:g.1250946T>A	ENSP00000436812:p.Ser377Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	21	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	9.377	1.072017	0.20147	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.55234	0.53;0.53	3.82	-4.96	0.03038	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.25827	0.0629	N	0.12831	0.26	0.09310	N	1	B;B;B	0.30326	0.004;0.276;0.276	B;B;B	0.29267	0.006;0.1;0.1	T	0.19451	-1.0305	9	0.87932	D	0	.	1.6986	0.02867	0.3036:0.0805:0.328:0.2878	.	377;1036;380	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	T	377;380;378;413	ENSP00000436812:S377T;ENSP00000415793:S380T	ENSP00000343037:S378T	S	+	1	0	MUC5B	1207522	0.000000	0.05858	0.000000	0.03702	0.563000	0.35712	-3.677000	0.00396	-0.942000	0.03695	0.260000	0.18958	TCT	.		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1250946	T	A	1250946	3	1	36	1	0	0	0	0	1	0	0	0	10017	1551	54	5	1176	5	MUC5B	11	1250946	Missense_Mutation	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	157742	1250946	133755570	54	8650											
COPB1	1315	broad.mit.edu;bcgsc.ca	37	chr11	14490270	14490270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctgcctctttcctcTgtgtgttacccattgctgcc	8	14	3	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:14490270T>C	ENST00000249923.3	-	16	2402	c.2102A>G	c.(2101-2103)cAg>cGg	p.Q701R	COPB1_ENST00000439561.2_Missense_Mutation_p.Q701R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	701					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTCTTTCCTCTGTGTGTTACC	0.398																																					p.Q701R		.											.	COPB1-91	0			c.A2102G						.						179	158	165					11																	14490270		2200	4294	6494	SO:0001583	missense	1315	exon16			TTCCTCTGTGTGT	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2102A>G	11.37:g.14490270T>C	ENSP00000249923:p.Gln701Arg	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_001144062	0	0	35	36	1	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096167	0.36952	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.43294	0.95;0.95	5.33	5.33	0.75918	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08249	-1.0731	10	0.18276	T	0.48	.	15.2948	0.73894	0.0:0.0:0.0:1.0	.	701	P53618	COPB_HUMAN	R	701	ENSP00000249923:Q701R;ENSP00000397873:Q701R	ENSP00000249923:Q701R	Q	-	2	0	COPB1	14446846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.021000	0.59480	0.533000	0.62120	CAG	.		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14490270	T	C	14490270	3	2	36	1	0	0	0	0	1	0	0	0	3735	1580	55	4	787	4	COPB1	11	14490270	Missense_Mutation	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	13239324	14490270	120516246	55	8651											
INSC	387755	bcgsc.ca	37	chr11	15199912	15199912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtcctgaagtcaatgaaGgcctgcgtgagtgagaccct	12	10	1	4	rs199801018	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:15199912G>T	ENST00000379554.3	+	5	685	c.639G>T	c.(637-639)aaG>aaT	p.K213N	INSC_ENST00000528567.1_Missense_Mutation_p.K166N|INSC_ENST00000525218.1_Missense_Mutation_p.K166N|INSC_ENST00000530161.1_Missense_Mutation_p.K166N|INSC_ENST00000379556.3_Missense_Mutation_p.K166N|INSC_ENST00000424273.1_Missense_Mutation_p.K166N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	213					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGTCAATGAAGGCCTGCGTGA	0.582													G|||	2	0.000399361	0	0.0014	5008	,	,		19638	0		0.001	False		,,,				2504	0				p.K213N		.											.	INSC-94	0			c.G639T						.	G	ASN/LYS,ASN/LYS	3,3973		0,3,1985	104	103	103		639,498	3.5	1	11		103	20,8290		1,18,4136	yes	missense,missense	INSC	NM_001031853.3,NM_001042536.1	94,94	1,21,6121	TT,TG,GG		0.2407,0.0755,0.1872	probably-damaging,probably-damaging	213/580,166/533	15199912	23,12263	1988	4155	6143	SO:0001583	missense	387755	exon5			AATGAAGGCCTGC	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.639G>T	11.37:g.15199912G>T	ENSP00000368872:p.Lys213Asn	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_001031853	0	0	0	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	17.04	3.287523	0.59976	7.55E-4	0.002407	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.44881	1.25;1.27;0.91;1.24;1.27;0.91	5.41	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (1);	0.046012	0.85682	D	0.000000	T	0.54481	0.1861	L	0.56769	1.78	0.42079	D	0.991248	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;P;D;D	0.70487	0.969;0.876;0.935;0.935	T	0.54364	-0.8305	10	0.72032	D	0.01	-38.2965	7.0151	0.24883	0.3808:0.0:0.6192:0.0	.	166;166;166;213	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	213;166;166;166;166;166;166	ENSP00000368872:K213N;ENSP00000368874:K166N;ENSP00000389161:K166N;ENSP00000435022:K166N;ENSP00000436194:K166N;ENSP00000436113:K166N	ENSP00000368872:K213N	K	+	3	2	INSC	15156488	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.020000	0.41010	0.671000	0.31185	-0.219000	0.12488	AAG	G|0.999;T|0.001		0.582	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15199912	G	T	15199912	3	4	36	1	0	0	0	0	1	0	0	0	7791	991	35	3	657	3	INSC	11	15199912	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	709642	15199912	119806604	56	8652											
LGALS12	85329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63276354	63276354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagccccatgtcatctgcaAcaccctgcatggtggacgct	9	15	2	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:63276354A>G	ENST00000394618.3	+	3	620	c.329A>G	c.(328-330)aAc>aGc	p.N110S	LGALS12_ENST00000340246.5_Missense_Mutation_p.N111S|LGALS12_ENST00000425950.2_Missense_Mutation_p.N49S|LGALS12_ENST00000255684.5_Missense_Mutation_p.N110S|LGALS12_ENST00000415491.2_Missense_Mutation_p.N49S	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	110	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTCATCTGCAACACCCTGCAT	0.612																																					p.N111S		.											.	LGALS12-92	0			c.A332G						.						80	79	79					11																	63276354		2201	4298	6499	SO:0001583	missense	85329	exon3			TCTGCAACACCCT	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.329A>G	11.37:g.63276354A>G	ENSP00000378116:p.Asn110Ser	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	133	36	NM_001142535	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271019	0.59540	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.34072	2.16;2.16;1.38;2.16;2.16	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000003	T	0.71962	0.3402	H	0.96662	3.86	0.40030	D	0.975517	D;D;D;D	0.89917	0.996;0.998;1.0;0.986	P;P;D;P	0.72338	0.908;0.903;0.977;0.782	T	0.82583	-0.0385	10	0.87932	D	0	-28.4029	14.0959	0.65021	1.0:0.0:0.0:0.0	.	70;111;110;110	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	S	110;110;111;49;49	ENSP00000255684:N110S;ENSP00000378116:N110S;ENSP00000339374:N111S;ENSP00000394659:N49S;ENSP00000399093:N49S	ENSP00000255684:N110S	N	+	2	0	LGALS12	63032930	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	5.591000	0.67536	2.279000	0.76181	0.533000	0.62120	AAC	.		0.612	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		G	63276354	A	G	63276354	3	3	36	1	0	0	0	0	1	0	0	0	8767	43	2	4	342	4	LGALS12	11	63276354	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	48076442	63276354	71730162	57	8653											
EHBP1L1	254102	broad.mit.edu;bcgsc.ca	37	chr11	65358004	65358004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgctgatccaggagtgGttcaccctggtcaacaagaa	13	9	2	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:65358004G>T	ENST00000309295.4	+	16	4489	c.4224G>T	c.(4222-4224)tgG>tgT	p.W1408C	EHBP1L1_ENST00000533364.1_5'Flank	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1408						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCAGGAGTGGTTCACCCTGG	0.632																																					p.W1408C		.											.	EHBP1L1-69	0			c.G4224T						.						73	82	79					11																	65358004		2130	4238	6368	SO:0001583	missense	254102	exon16			GGAGTGGTTCACC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.4224G>T	11.37:g.65358004G>T	ENSP00000312671:p.Trp1408Cys	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	48	5	NM_001099409	0	0	2	2	0	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999321	0.74818	.	.	ENSG00000173442	ENST00000309295	T	0.56941	0.43	4.3	4.3	0.51218	Domain of unknown function DUF3585 (1);	0.000000	0.64402	D	0.000003	T	0.76550	0.4003	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82388	-0.0482	10	0.87932	D	0	.	14.3155	0.66446	0.0:0.0:1.0:0.0	.	1408	Q8N3D4	EH1L1_HUMAN	C	1408	ENSP00000312671:W1408C	ENSP00000312671:W1408C	W	+	3	0	EHBP1L1	65114580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.396000	0.90190	2.243000	0.73865	0.514000	0.50259	TGG	.		0.632	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		T	65358004	G	T	65358004	3	4	36	1	0	0	0	0	1	0	0	0	4990	1270	44	3	4286	3	EHBP1L1	11	65358004	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	2081650	65358004	69648512	58	8654											
CCDC67	159989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggctttggagacaCgattagatcttcgggatcaa	13	7	2	3	rs374648091		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	46					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388																																					p.R46X		.											.	CCDC67-91	0			c.C136T						.						105	107	106					11																	93088643		1879	4099	5978	SO:0001587	stop_gained	159989	exon3			GAGACACGATTAG	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.136C>T	11.37:g.93088643C>T	ENSP00000298050:p.Arg46*	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	119	84	NM_181645	0	0	0	0	0	Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645274	0.87859	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	.	.	.	5.54	1.18	0.20946	.	0.445552	0.20432	N	0.092454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1073	0.14790	0.4125:0.4189:0.0919:0.0768	.	.	.	.	X	46	.	ENSP00000298050:R46X	R	+	1	2	CCDC67	92728291	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.260000	0.32968	0.656000	0.30886	0.491000	0.48974	CGA	.		0.388	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		T	93088643	C	T	93088643	4	4	36	1	0	0	0	0	0	1	0	0	2846	528	19	1	142	1	CCDC67	11	93088643	Nonsense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	27730639	93088643	41917873	59	8655											
PTS	5805	broad.mit.edu	37	chr11	112097182	112097182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagatgagcacggaaggtGgtggccgtcgctgccaggca	18	9	0	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr11:112097182G>T	ENST00000280362.3	+	1	95	c.16G>T	c.(16-18)Ggt>Tgt	p.G6C	PTS_ENST00000525803.1_Missense_Mutation_p.G6C|PTS_ENST00000524931.1_5'Flank	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	6					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-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;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		CACGGAAGGTGGTGGCCGTCG	0.716																																					p.G6C		.											.	PTS-90	0			c.G16T						.						23	20	21					11																	112097182		2171	4244	6415	SO:0001583	missense	5805	exon1			GAAGGTGGTGGCC	U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.16G>T	11.37:g.112097182G>T	ENSP00000280362:p.Gly6Cys	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	142	4	NM_000317	0	0	30	30	0	B0YJ87|Q8WVG8	Missense_Mutation	SNP	ENST00000280362.3	37	CCDS8359.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008589	0.35415	.	.	ENSG00000150787	ENST00000280362;ENST00000525803	D;D	0.99445	-5.91;-4.52	4.36	-8.72	0.00845	.	1.419100	0.04574	N	0.393763	D	0.96393	0.8823	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	D	0.93600	0.6929	10	0.54805	T	0.06	-18.4996	7.0276	0.24948	0.0921:0.5063:0.2926:0.1091	.	6	Q03393	PTPS_HUMAN	C	6	ENSP00000280362:G6C;ENSP00000431750:G6C	ENSP00000280362:G6C	G	+	1	0	PTS	111602392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.707000	0.01893	-2.695000	0.00402	-0.867000	0.03001	GGT	.		0.716	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317		T	112097182	G	T	112097182	3	4	36	1	0	0	0	0	1	0	0	0	12863	1348	47	3	18	3	PTS	11	112097182	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	19008539	112097182	22909334	60	8656											
AICDA	57379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8759524	8759524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgcctcttcactacGtagcacaggtaggtctcacg	9	14	4	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr12:8759524G>A	ENST00000229335.6	-	2	196	c.93C>T	c.(91-93)taC>taT	p.Y31Y	AICDA_ENST00000537228.1_Silent_p.Y31Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	31					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)					TCTTCACTACGTAGCACAGGT	0.473																																					p.Y31Y	GBM(62;896 1067 5527 26594 30137)	.											.	AICDA-229	0			c.C93T	GRCh37	CM064965	AICDA	M		.						84	80	81					12																	8759524		1960	4148	6108	SO:0001819	synonymous_variant	57379	exon2			CACTACGTAGCAC	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.93C>T	12.37:g.8759524G>A		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	217	110	NM_020661	0	0	0	0	0	Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	g	9.641	1.139088	0.21205	.	.	ENSG00000111732	ENST00000543081;ENST00000544516;ENST00000545512	.	.	.	5.36	-6.38	0.01957	.	.	.	.	.	T	0.62696	0.2449	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65582	-0.6133	4	.	.	.	-24.8465	15.3664	0.74526	0.5478:0.0:0.4522:0.0	.	.	.	.	M	30	.	.	T	-	2	0	AICDA	8650791	0.001000	0.12720	0.896000	0.35187	0.951000	0.60555	-1.257000	0.02866	-1.218000	0.02601	-0.592000	0.04112	ACG	.		0.473	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		A	8759524	G	A	8759524	2	1	36	1	0	0	0	0	0	0	0	1	422	1140	40	1		1	AICDA	12	8759524	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		8759524	125092371	61	8657											
PKP2	5318	hgsc.bcm.edu	37	chr12	33049590	33049590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgccaggctggagctgtCcagttgtcccaggatctgct	13	13	1	0	rs143004808	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr12:33049590C>T	ENST00000070846.6	-	1	100	c.76G>A	c.(76-78)Gac>Aac	p.D26N	PKP2_ENST00000546741.1_5'Flank|PKP2_ENST00000340811.4_Missense_Mutation_p.D26N	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	26			D -> N (associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy; dbSNP:rs143004808). {ECO:0000269|PubMed:19955750, ECO:0000269|PubMed:20031617}.		adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGAGCTGTCCAGTTGTCCC	0.716													C|||	15	0.00299521	8e-04	0.0014	5008	,	,		8671	0		0.0109	False		,,,				2504	0.002				p.D26N		.											.	PKP2-92	0			c.G76A	GRCh37	CM061172	PKP2	M	rs143004808	.	C	ASN/ASP,ASN/ASP	4,4140		0,4,2068	7	7	7		76,76	4.1	1	12	dbSNP_134	7	56,8144		0,56,4044	no	missense,missense	PKP2	NM_001005242.2,NM_004572.3	23,23	0,60,6112	TT,TC,CC		0.6829,0.0965,0.4861	possibly-damaging,possibly-damaging	26/838,26/882	33049590	60,12284	2072	4100	6172	SO:0001583	missense	5318	exon1			AGCTGTCCAGTTG	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.76G>A	12.37:g.33049590C>T	ENSP00000070846:p.Asp26Asn	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	13	NM_004572	0	0	2	2	0	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	33	5.290752	0.95546	9.65E-4	0.006829	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.83591	-1.74;-1.72	4.07	4.07	0.47477	.	0.127072	0.34802	N	0.003678	T	0.79822	0.4512	L	0.29908	0.895	0.47659	D	0.999482	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.60415	0.874;0.751;0.859	D	0.83985	0.0334	10	0.54805	T	0.06	-24.6581	15.4098	0.74908	0.0:1.0:0.0:0.0	.	26;26;26	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	N	26	ENSP00000342800:D26N;ENSP00000070846:D26N	ENSP00000070846:D26N	D	-	1	0	PKP2	32940857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.560000	0.53763	2.081000	0.62600	0.491000	0.48974	GAC	C|0.997;T|0.003		0.716	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		T	33049590	C	T	33049590	3	4	36	1	0	0	0	0	1	0	0	0	12024	855	30	3	2625	3	PKP2	12	33049590	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	24290066	33049590	100802305	62	8658											
NAV3	89795	broad.mit.edu;bcgsc.ca	37	chr12	78392165	78392165	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcaggaagcagcagcaaggtCcagggagcctctaatttaaa	12	9	1	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr12:78392165C>G	ENST00000397909.2	+	7	962	c.789C>G	c.(787-789)gtC>gtG	p.V263V	NAV3_ENST00000228327.6_Silent_p.V263V|NAV3_ENST00000536525.2_Silent_p.V263V|NAV3_ENST00000266692.7_Silent_p.V263V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	263						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						GCAGCAAGGTCCAGGGAGCCT	0.398										HNSCC(70;0.22)																											p.V263V		.											.	NAV3-279	0			c.C789G						.						50	46	48					12																	78392165		1818	4080	5898	SO:0001819	synonymous_variant	89795	exon7			CAAGGTCCAGGGA	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.789C>G	12.37:g.78392165C>G		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	144	5	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	9.250	1.040592	0.19669	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.57	1.53	0.23141	.	.	.	.	.	T	0.46210	0.1381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	0.0067	4.2246	0.10574	0.2717:0.4607:0.0:0.2676	.	.	.	.	A	87	.	.	P	+	1	0	NAV3	76916296	0.992000	0.36948	0.824000	0.32777	0.979000	0.70002	0.929000	0.28844	0.243000	0.21327	0.650000	0.86243	CCA	.		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78392165	C	G	78392165	2	3	36	1	0	0	0	0	0	0	0	1	10223	842	30	3		3	NAV3	12	78392165	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	45342575	78392165	55459730	63	8659											
NCOR2	9612	hgsc.bcm.edu	37	chr12	124819002	124819002	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtggggggagccacgGgccggggcaccatggtccgg	20	12	0	0	rs201853086	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr12:124819002G>C	ENST00000405201.1	-	41	6573	c.6573C>G	c.(6571-6573)gcC>gcG	p.A2191A	NCOR2_ENST00000404121.2_Silent_p.A1752A|NCOR2_ENST00000429285.2_Silent_p.A2181A|NCOR2_ENST00000356219.3_Silent_p.A2198A|NCOR2_ENST00000404621.1_Silent_p.A2181A|NCOR2_ENST00000397355.1_Silent_p.A2182A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2202					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)		GGGAGCCACGGGCCGGGGCAC	0.726													g|||	2	0.000399361	0	0.0029	5008	,	,		10982	0		0	False		,,,				2504	0				p.A2191A		.											.	NCOR2-229	0			c.C6573G						.		,,	2,3502		0,2,1750	4	6	5		6543,6543,6573	0.5	0.8	12		5	7,7715		0,7,3854	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,9,5604	CC,CG,GG		0.0907,0.0571,0.0802	,,	2181/2459,2181/2505,2191/2515	124819002	9,11217	1752	3861	5613	SO:0001819	synonymous_variant	9612	exon43			GCCACGGGCCGGG	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.6573C>G	12.37:g.124819002G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	91	36	NM_006312	0	0	24	45	21	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	g	9.220	1.033225	0.19590	5.71E-4	9.07E-4	ENSG00000196498	ENST00000443451	.	.	.	4.49	0.499	0.16914	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.30136	N	0.804331	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	-25.0273	1.03	0.01536	0.2231:0.113:0.3232:0.3407	.	.	.	.	R	64	.	.	P	-	2	0	NCOR2	123384955	0.814000	0.29104	0.780000	0.31762	0.879000	0.50718	0.003000	0.13083	-0.216000	0.10048	0.550000	0.68814	CCC	G|0.998;C|0.002		0.726	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		C	124819002	G	C	124819002	2	2	36	1	0	0	0	0	0	0	0	1	10275	1219	43	3		3	NCOR2	12	124819002	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	46426837	124819002	9032893	64	8660											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)			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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V		.											.	TPTE2-92	0			c.A121G						.						47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C		Somatic	291	2		WXS	Illumina GAIIx	Phase_I	164	6	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG	.		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	36	1	0	0	0	0	0	0	1	0	16479	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10		20056686	95113192	65	8661											
C13orf15	28984	ucsc.edu	37	chr13	42032572	42032572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcgcagcagcgccagTgtcagcgacagcagcggctt	15	13	1	0	rs7136	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr13:42032572T>C	ENST00000379359.3	+	2	350	c.201T>C	c.(199-201)agT>agC	p.S67S		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	67	Ser/Thr-rich.				cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)										GCAGCGCCAGTGTCAGCGACA	0.682													.|||	2788	0.556709	0.7829	0.5447	5008	,	,		14651	0.6766		0.3946	False		,,,				2504	0.3027				p.S67S		.											.	.	0			c.T201C						.	C		2432,1322		809,814,254	8	9	9		201	3.6	1	13	dbSNP_52	9	3009,5139		592,1825,1657	no	coding-synonymous	C13orf15	NM_014059.2		1401,2639,1911	CC,CT,TT		36.9293,35.2158,45.715		67/138	42032572	5441,6461	1877	4074	5951	SO:0001819	synonymous_variant	28984	exon2			CGCCAGTGTCAGC	AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"response gene to complement 32"	610077	"chromosome 13 open reading frame 15"	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.201T>C	13.37:g.42032572T>C		Somatic	14	2		WXS	Illumina GAIIx	Phase_I	25	18	NM_014059	0	0	2	4	2	Q6NZ48|Q9UL69	Silent	SNP	ENST00000379359.3	37	CCDS41880.1																																																																																			T|0.426;C|0.574		0.682	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059		C	42032572	T	C	42032572	2	2	36	1	0	0	0	0	0	0	0	1	1723	1693	59	4		4	C13orf15	13	42032572	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	21975886	42032572	73137306	66	8662											
ZNF219	51222	hgsc.bcm.edu	37	chr14	21560706	21560706	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcacgttcgggctcCggctccggctccggctgggg	16	15	1	0	rs370417468|rs1065496	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr14:21560706C>G	ENST00000360947.3	-	3	1161	c.750G>C	c.(748-750)ccG>ccC	p.P250P	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P250P|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Silent_p.P250P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	250					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		gttcgggctccggctccggct	0.726											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	448	0.0894569	0.1097	0.049	5008	,	,		11470	0.0942		0.0785	False		,,,				2504	0.0971				p.P250P		.											.	ZNF219-90	0			c.G750C						.	C	,,	331,3629		14,303,1663	6	7	7		750,750,750	-8.1	0.1	14	dbSNP_86	7	434,7432		9,416,3508	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF219	NM_001101672.1,NM_001102454.1,NM_016423.2	,,	23,719,5171	GG,GC,CC		5.5174,8.3586,6.4688	,,	250/723,250/723,250/723	21560706	765,11061	1980	3933	5913	SO:0001819	synonymous_variant	51222	exon3			GGGCTCCGGCTCC	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.750G>C	14.37:g.21560706C>G		Somatic	2	0	749	WXS	Illumina GAIIx	Phase_I	23	20	NM_001102454	0	0	0	19	19	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Silent	SNP	ENST00000360947.3	37	CCDS9568.1																																																																																			C|0.100;G|0.900		0.726	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21560706	C	G	21560706	2	3	36	1	0	0	0	0	0	0	0	1	17821	639	23	2		2	ZNF219	14	21560706	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		21560706	85788834	67	8663											
PNN	5411	broad.mit.edu	37	chr14	39649736	39649736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtagacgcatcgaatttGcagaacaaataaataaaatg	8	5	0	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr14:39649736G>T	ENST00000216832.4	+	9	890	c.823G>T	c.(823-825)Gca>Tca	p.A275S	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	275	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.				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)		CATCGAATTTGCAGAACAAAT	0.338																																					p.A275S		.											.	PNN-91	0			c.G823T						.						61	64	63					14																	39649736		2203	4300	6503	SO:0001583	missense	5411	exon9			GAATTTGCAGAAC	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.823G>T	14.37:g.39649736G>T	ENSP00000216832:p.Ala275Ser	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	82	5	NM_002687	0	0	8	8	0	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283919	0.59867	.	.	ENSG00000100941	ENST00000216832	T	0.33865	1.39	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.57425	0.82	T	0.44159	-0.9346	10	0.18276	T	0.48	-9.6353	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	275	Q9H307	PININ_HUMAN	S	275	ENSP00000216832:A275S	ENSP00000216832:A275S	A	+	1	0	PNN	38719487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.834000	0.92094	1.532000	0.49169	0.655000	0.94253	GCA	.		0.338	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		T	39649736	G	T	39649736	3	4	36	1	0	0	0	0	1	0	0	0	12199	1319	46	3	857	3	PNN	14	39649736	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	18089030	39649736	67699804	68	8664											
GALK2	2585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	49611899	49611899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaagcacctgaaaacAtggtccagctgctgggagag	14	8	0	4			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr15:49611899A>G	ENST00000560031.1	+	9	1373	c.1066A>G	c.(1066-1068)Atg>Gtg	p.M356V	GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.M332V|GALK2_ENST00000559454.1_Missense_Mutation_p.M332V|GALK2_ENST00000327171.3_Missense_Mutation_p.M345V|GALK2_ENST00000544523.1_Missense_Mutation_p.M332V|GALK2_ENST00000543495.1_3'UTR			Q01415	GALK2_HUMAN	galactokinase 2	356					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		ACCTGAAAACATGGTCCAGCT	0.532																																					p.M356V		.											.	GALK2-160	0			c.A1066G						.						81	74	77					15																	49611899		2196	4295	6491	SO:0001583	missense	2585	exon9			GAAAACATGGTCC		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1066A>G	15.37:g.49611899A>G	ENSP00000453129:p.Met356Val	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	162	79	NM_002044	0	0	6	14	8	Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446885	0.25987	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.90324	-2.65;-2.65	5.89	-6.5	0.01884	GHMP kinase, C-terminal (1);	1.147800	0.05976	N	0.643313	T	0.70072	0.3182	N	0.00960	-1.095	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63673	-0.6584	10	0.11182	T	0.66	-35.1665	12.2908	0.54817	0.2678:0.0:0.6326:0.0996	.	356;345	Q01415;Q7Z4Q4	GALK2_HUMAN;.	V	345;356;332	ENSP00000316632:M345V;ENSP00000440312:M332V	ENSP00000316632:M345V	M	+	1	0	GALK2	47399191	0.000000	0.05858	0.008000	0.14137	0.995000	0.86356	0.425000	0.21346	-0.787000	0.04510	0.533000	0.62120	ATG	.		0.532	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			G	49611899	A	G	49611899	3	3	36	1	0	0	0	0	1	0	0	0	6229	217	8	4	1124	4	GALK2	15	49611899	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10		49611899	52919493	69	8665											
FAM63B	54629	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	59102553	59102553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatttgatcttcttgataTtcctttgtaccatgggtggt	9	6	2	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr15:59102553T>C	ENST00000559228.1	+	4	1170	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	FAM63B_ENST00000450403.2_Missense_Mutation_p.I363T			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	363										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTCTTGATATTCCTTTGTAC	0.343																																					p.I363T		.											.	FAM63B-90	0			c.T1088C						.						143	138	140					15																	59102553		1833	4085	5918	SO:0001583	missense	54629	exon4			TTGATATTCCTTT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1088T>C	15.37:g.59102553T>C	ENSP00000452885:p.Ile363Thr	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	146	35	NM_001040450	0	0	1	1	0	B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539526	0.85917	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.62232	0.04	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.88031	2.925	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	D	0.86025	0.1509	10	0.87932	D	0	-2.3202	15.7387	0.77866	0.0:0.0:0.0:1.0	.	363;363	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	T	363	ENSP00000393231:I363T	ENSP00000326194:I363T	I	+	2	0	FAM63B	56889845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.101000	0.63845	0.482000	0.46254	ATT	.		0.343	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		C	59102553	T	C	59102553	3	2	36	1	0	0	0	0	1	0	0	0	5619	1493	52	4	1102	4	FAM63B	15	59102553	Missense_Mutation	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	9490654	59102553	43428839	70	8666											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_171846	0	0	0	1	1	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	36	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	4311530	63414083	39117309	71	8667											
IGDCC4	57722	hgsc.bcm.edu;broad.mit.edu	37	chr15	65688115	65688116	+	In_Frame_Ins	INS	-	-	GCC													ttctggtagtggagagagaaINSgccgatgatctgctcgctgt							TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr15:65688115_65688116insGCC	ENST00000352385.2	-	7	1592_1593	c.1383_1384insGGC	c.(1381-1386)ggcttc>ggcGGCttc	p.461_462insG		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	461	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGAGAGAAGCCGATGATCT	0.693																																					p.F462delinsGF		.											.	IGDCC4-93	0			c.1384_1385insGGC						.																																			SO:0001652	inframe_insertion	57722	exon7			GAGAGAAGCCGAT		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1381_1383dupGGC	15.37:g.65688116_65688118dupGCC	ENSP00000319623:p.Gly461_Gly461dup	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	47	10	NM_020962	0	0	0	0	0	Q9HCE4	In_Frame_Ins	INS	ENST00000352385.2	37	CCDS10206.1																																																																																			.		0.693	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		GCC	65688116	-	GCC	65688115	7	5	36	1	0	1	1	0	0	0	0	0	7596	72	3	0	2424	0	IGDCC4	15	65688115	In_Frame_Ins	INS	-	TCGA-OR-A5KU-01A-11D-A29I-10	2274032	65688115	36843277	72	8668											
ADAMTS7	11173	bcgsc.ca	37	chr15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcccacaccacttgcctCgctccagtttcccgcttgcc	6	21	0	0	rs200769684		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1422K(3)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACTTGCCTCGCTCCAGTTT	0.657																																					p.E1422K		.											.	ADAMTS7-226	3	Substitution - Missense(3)	skin(2)|NS(1)	c.G4264A						.						31	34	33					15																	79057989		2188	4275	6463	SO:0001583	missense	11173	exon19			TTGCCTCGCTCCA	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys	Somatic	86	2		WXS	Illumina GAIIx	Phase_I	208	21	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG	C|0.999;T|0.001		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79057989	C	T	79057989	3	4	36	1	0	0	0	0	1	0	0	0	271	893	31	1	820	1	ADAMTS7	15	79057989	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	13369874	79057989	23473403	73	8669											
PRSS22	64063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2903974	2903974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgcagacttccgagtcGatgataggaaccttcagctt	11	10	1	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr16:2903974G>A	ENST00000161006.3	-	5	674	c.609C>T	c.(607-609)atC>atT	p.I203I	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Silent_p.I93I	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	203	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTTCCGAGTCGATGATAGGAA	0.602																																					p.I203I		.											.	PRSS22-90	0			c.C609T						.						84	81	82					16																	2903974		2198	4300	6498	SO:0001819	synonymous_variant	64063	exon5			CGAGTCGATGATA	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.609C>T	16.37:g.2903974G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	117	21	NM_022119	0	0	0	0	0	O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	CCDS10481.1																																																																																			.		0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		A	2903974	G	A	2903974	2	1	36	1	0	0	0	0	0	0	0	1	12661	1048	37	1		1	PRSS22	16	2903974	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		2903974	87450779	74	8670											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	36	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	400599	3304573	87050180	75	8671											
ZNF174	7727	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	3454512	3454512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgccagactttcaaccGcagactcctaggagagatct	9	12	2	3	rs140705448		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr16:3454512G>A	ENST00000268655.4	+	2	1074	c.489G>A	c.(487-489)ccG>ccA	p.P163P	ZNF174_ENST00000571936.1_Silent_p.P163P|ZNF174_ENST00000344823.5_Silent_p.P163P|ZNF174_ENST00000572544.1_Silent_p.P163P|ZNF174_ENST00000575752.1_Silent_p.P163P	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	163					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ACTTTCAACCGCAGACTCCTA	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		17550	0		0	False		,,,				2504	0				p.P163P		.											.	ZNF174-90	0			c.G489A						.	G	,	2,4392	4.2+/-10.8	0,2,2195	99	110	106		489,489	-7	0	16	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF174	NM_001032292.2,NM_003450.2	,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	,	163/235,163/408	3454512	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	7727	exon2			TCAACCGCAGACT	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.489G>A	16.37:g.3454512G>A		Somatic	91	1		WXS	Illumina GAIIx	Phase_I	96	15	NM_001032292	0	0	9	13	4	Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	CCDS10504.1																																																																																			G|1.000;A|0.000		0.557	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		A	3454512	G	A	3454512	2	1	36	1	0	0	0	0	0	0	0	1	17792	1074	38	1		1	ZNF174	16	3454512	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	149939	3454512	86900241	76	8672											
ITGAL	3683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30492905	30492905	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccatcaattatgtcgCgtgagttcccttttgcagga	11	9	1	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr16:30492905C>T	ENST00000356798.6	+	7	902	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Splice_Site_p.A158V|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	241	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATTATGTCGCGTGAGTTCCC	0.483																																					p.A241V	NSCLC(110;1462 1641 3311 33990 49495)	.											.	ITGAL-994	0			c.C722T						.						129	91	104					16																	30492905		2197	4300	6497	SO:0001630	splice_region_variant	3683	exon7			ATGTCGCGTGAGT		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.722+1C>T	16.37:g.30492905C>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	199	33	NM_002209	0	0	0	0	0	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	4.496	0.091905	0.08632	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.82526	-1.62;-1.62	5.54	0.136	0.14780	von Willebrand factor, type A (3);	0.657383	0.13301	N	0.398251	T	0.53254	0.1785	N	0.02142	-0.665	0.80722	D	1	B;B	0.16166	0.016;0.007	B;B	0.10450	0.005;0.002	T	0.51787	-0.8661	10	0.02654	T	1	.	8.3278	0.32167	0.0:0.4851:0.0:0.5149	.	158;241	Q96HB1;P20701	.;ITAL_HUMAN	V	241;158	ENSP00000349252:A241V;ENSP00000350886:A158V	ENSP00000349252:A241V	A	+	2	0	ITGAL	30400406	0.671000	0.27521	0.726000	0.30738	0.803000	0.45373	0.014000	0.13333	0.142000	0.18901	0.404000	0.27445	GCG	.		0.483	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Missense_Mutation	T	30492905	C	T	30492905	5	4	36	1	0	0	0	0	0	0	1	0	7913	782	27	1	748	1	ITGAL	16	30492905	Splice_Site	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	27038393	30492905	59861848	77	8673											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	36	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	27069899	57562804	32791949	78	8674											
CRK	1398	bcgsc.ca	37	chr17	1359363	1359363	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcctgccgactcaaccTcccccagtaccagctactcc	5	22	1	0	rs2229075	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr17:1359363T>G	ENST00000300574.2	-	1	189	c.49A>C	c.(49-51)Agg>Cgg	p.R17R	CRK_ENST00000574295.1_Silent_p.R17R|CRK_ENST00000398970.5_Silent_p.R17R|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	17	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CGACTCAACCTCCCCCAGTAC	0.721													G|||	3645	0.727835	0.9213	0.7104	5008	,	,		9691	0.5149		0.7018	False		,,,				2504	0.7249				p.R17R		.											.	CRK-1270	0			c.A49C						.	G	,	3740,508		1659,422,43	17	17	17		49,49	5.1	1	17	dbSNP_98	17	6091,2317		2224,1643,337	no	coding-synonymous,coding-synonymous	CRK	NM_005206.3,NM_016823.2	,	3883,2065,380	GG,GT,TT		27.5571,11.9586,22.3214	,	17/205,17/305	1359363	9831,2825	2124	4204	6328	SO:0001819	synonymous_variant	1398	exon1			TCAACCTCCCCCA	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.49A>C	17.37:g.1359363T>G		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	59	49	NM_016823	0	0	0	0	0	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	CCDS11002.1																																																																																			T|0.151;G|0.509;C|0.239;A|0.100		0.721	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		G	1359363	T	G	1359363	2	3	36	1	0	0	0	0	0	0	0	1	3891	1550	54	5		5	CRK	17	1359363	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10		1359363	79835847	79	8675											
C17orf68	80169	broad.mit.edu	37	chr17	8140717	8140717	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgatgatggacacgtgggtGacagctgggtgtgatctacc	15	8	1	3			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr17:8140717G>T	ENST00000315684.8	-	5	775	c.768C>A	c.(766-768)gtC>gtA	p.V256V	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	256					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						ACACGTGGGTGACAGCTGGGT	0.498																																					p.V256V		.											.	CTC1-93	0			c.C768A						.						115	116	116					17																	8140717		2044	4173	6217	SO:0001819	synonymous_variant	80169	exon5			GTGGGTGACAGCT	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.768C>A	17.37:g.8140717G>T		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	119	5	NM_025099	0	0	1	1	0	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																			.		0.498	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		T	8140717	G	T	8140717	2	4	36	1	0	0	0	0	0	0	0	1	1882	1277	45	3		3	C17orf68	17	8140717	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	6781354	8140717	73054493	80	8676											
NT5M	56953	hgsc.bcm.edu;ucsc.edu	37	chr17	17250223	17250223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctgcactcgtgggcggacGactggaaggccattctggac	16	11	1	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr17:17250223G>T	ENST00000389022.4	+	5	865	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	217					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTGGGCGGACGACTGGAAGGC	0.687																																					p.D217Y		.											.	NT5M-90	0			c.G649T						.						37	44	42					17																	17250223		2203	4300	6503	SO:0001583	missense	56953	exon5			GCGGACGACTGGA	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.649G>T	17.37:g.17250223G>T	ENSP00000373674:p.Asp217Tyr	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_020201	0	0	4	4	0		Missense_Mutation	SNP	ENST00000389022.4	37	CCDS32581.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929204	0.52759	.	.	ENSG00000205309	ENST00000389022	T	0.41400	1.0	5.79	3.81	0.43845	HAD-like domain (2);	.	.	.	.	T	0.57533	0.2060	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60250	-0.7300	9	0.72032	D	0.01	-6.1642	10.9015	0.47054	0.1526:0.0:0.8474:0.0	.	223;217	Q2I378;Q9NPB1	.;NT5M_HUMAN	Y	217	ENSP00000373674:D217Y	ENSP00000373674:D217Y	D	+	1	0	NT5M	17190948	1.000000	0.71417	0.955000	0.39395	0.185000	0.23345	3.924000	0.56476	1.449000	0.47699	-0.258000	0.10820	GAC	.		0.687	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			T	17250223	G	T	17250223	3	4	36	1	0	0	0	0	1	0	0	0	10733	1058	37	2	667	2	NT5M	17	17250223	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	9109506	17250223	63944987	81	8677											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000417379.1_Missense_Mutation_p.A438T|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	36	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	61845892	79096115	2099095	82	8678											
AATK	9625	hgsc.bcm.edu	37	chr17	79096352	79096352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcagcacgtcgtcgcCgtccgcgtggaagccgtcgc	13	17	1	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr17:79096352C>T	ENST00000326724.4	-	11	1408	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S	AATK_ENST00000417379.1_Missense_Mutation_p.G359S|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	462					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACGTCGTCGCCGTCCGCGTGG	0.726																																					p.G462S		.											.	AATK-933	0			c.G1384A						.						3	4	3					17																	79096352		1547	3349	4896	SO:0001583	missense	9625	exon11			CGTCGCCGTCCGC	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1384G>A	17.37:g.79096352C>T	ENSP00000324196:p.Gly462Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	27	21	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725244	0.48833	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77750	-1.12;-1.0	4.12	2.1	0.27182	.	0.254658	0.37483	N	0.002072	T	0.61085	0.2319	L	0.41236	1.265	0.42650	D	0.993444	D	0.57257	0.979	B	0.38985	0.287	T	0.56619	-0.7949	10	0.14656	T	0.56	.	7.9682	0.30111	0.0:0.7909:0.0:0.2091	.	462	Q6ZMQ8	LMTK1_HUMAN	S	462	ENSP00000324196:G462S;ENSP00000363924:G462S	ENSP00000324196:G462S	G	-	1	0	AATK	76710947	0.390000	0.25213	0.034000	0.17996	0.832000	0.47134	2.584000	0.46102	0.366000	0.24427	0.561000	0.74099	GGC	.		0.726	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096352	C	T	79096352	3	4	36	1	0	0	0	0	1	0	0	0	26	652	23	1	2756	1	AATK	17	79096352	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	237	79096352	2098858	83	8679											
NEDD4L	23327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	56035075	56035075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagttgctggtctggccGtatttcatgggaagctctta	13	7	3	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr18:56035075G>A	ENST00000400345.3	+	22	2444	c.2161G>A	c.(2161-2163)Gta>Ata	p.V721I	NEDD4L_ENST00000586263.1_Missense_Mutation_p.V693I|NEDD4L_ENST00000456986.1_Missense_Mutation_p.V600I|NEDD4L_ENST00000431212.2_Missense_Mutation_p.V600I|NEDD4L_ENST00000356462.6_Missense_Mutation_p.V657I|NEDD4L_ENST00000256832.7_Missense_Mutation_p.V581I|NEDD4L_ENST00000256830.9_Missense_Mutation_p.V617I|NEDD4L_ENST00000382850.4_Missense_Mutation_p.V701I|NEDD4L_ENST00000456173.2_Missense_Mutation_p.V580I|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.V713I|NEDD4L_ENST00000435432.2_Missense_Mutation_p.V580I	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	721	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGGTCTGGCCGTATTTCATGG	0.428																																					p.V721I		.											.	NEDD4L-658	0			c.G2161A						.						114	103	106					18																	56035075		1888	4096	5984	SO:0001583	missense	23327	exon22			CTGGCCGTATTTC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2161G>A	18.37:g.56035075G>A	ENSP00000383199:p.Val721Ile	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	172	21	NM_001144967	0	0	0	0	0	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233082	0.79688	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.12527	0.23	0.80722	D	1	D;P;D;P;D;P	0.89917	0.981;0.943;0.979;0.896;1.0;0.912	P;P;D;D;D;P	0.91635	0.895;0.852;0.984;0.932;0.999;0.852	T	0.48234	-0.9053	10	0.41790	T	0.15	.	19.5873	0.95495	0.0:0.0:1.0:0.0	.	693;713;580;657;721;701	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	I	721;701;657;617;581;600;713;580;580;600	ENSP00000383199:V721I;ENSP00000372301:V701I;ENSP00000348847:V657I;ENSP00000256830:V617I;ENSP00000256832:V581I;ENSP00000411947:V600I;ENSP00000350569:V713I;ENSP00000393395:V580I;ENSP00000405440:V580I;ENSP00000389406:V600I	ENSP00000256830:V617I	V	+	1	0	NEDD4L	54186055	1.000000	0.71417	0.818000	0.32626	0.915000	0.54546	9.813000	0.99286	2.702000	0.92279	0.650000	0.86243	GTA	.		0.428	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	56035075	G	A	56035075	3	1	36	1	0	0	0	0	1	0	0	0	10350	1145	40	1	2275	1	NEDD4L	18	56035075	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		56035075	22042173	84	8680											
PMAIP1	5366	hgsc.bcm.edu	37	chr18	57567464	57567464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagccccgcgcgggctccaGcaggtaccgacccgctgggg	16	17	0	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr18:57567464G>C	ENST00000316660.6	+	1	285	c.55G>C	c.(55-57)Gca>Cca	p.A19P	PMAIP1_ENST00000269518.9_Missense_Mutation_p.A19P	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	19					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|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)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				GCGGGCTCCAGCAGGTACCGA	0.746																																					p.A19P		.											.	PMAIP1-658	0			c.G55C						.						3	4	4					18																	57567464		1769	3605	5374	SO:0001583	missense	5366	exon1			GCTCCAGCAGGTA	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.55G>C	18.37:g.57567464G>C	ENSP00000326119:p.Ala19Pro	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	34	29	NM_021127	0	0	0	0	0	B2R4T7|Q8N589	Missense_Mutation	SNP	ENST00000316660.6	37	CCDS11975.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761063	0.31137	.	.	ENSG00000141682	ENST00000316660;ENST00000269518	.	.	.	2.76	1.84	0.25277	.	0.257065	0.20543	U	0.090271	T	0.56140	0.1965	.	.	.	0.18873	N	0.999989	D;P	0.76494	0.999;0.661	D;P	0.69479	0.964;0.61	T	0.41610	-0.9499	8	0.87932	D	0	.	6.8348	0.23931	0.0:0.0:0.7241:0.2759	.	19;19	Q8N589;Q13794	.;APR_HUMAN	P	19	.	ENSP00000269518:A19P	A	+	1	0	PMAIP1	55718444	0.015000	0.18098	0.432000	0.26747	0.070000	0.16714	0.104000	0.15313	0.684000	0.31448	0.462000	0.41574	GCA	.		0.746	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		C	57567464	G	C	57567464	3	2	36	1	0	0	0	0	1	0	0	0	12169	971	34	3	57	3	PMAIP1	18	57567464	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	1532389	57567464	20509784	85	8681											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005224	0	0	0	8	8	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	36	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10		929753	58199230	86	8682											
MATK	4145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3778527	3778527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttagggtacggagcccGtccatatgagaagacctccc	10	12	0	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:3778527G>A	ENST00000310132.6	-	13	1662	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	MATK_ENST00000585778.1_Missense_Mutation_p.R421W|MATK_ENST00000395045.2_Missense_Mutation_p.R423W|MATK_ENST00000395040.2_Missense_Mutation_p.R381W	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TACGGAGCCCGTCCATATGAG	0.647																																					p.R423W		.											.	MATK-521	0			c.C1267T						.						57	62	60					19																	3778527		2203	4299	6502	SO:0001583	missense	4145	exon13			GAGCCCGTCCATA	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.1264C>T	19.37:g.3778527G>A	ENSP00000308734:p.Arg422Trp	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	211	45	NM_002378	0	0	0	0	0	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	14.86	2.660245	0.47572	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.83250	-1.7;-1.7;-1.7	3.74	0.116	0.14647	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.079304	0.51477	D	0.000084	D	0.88815	0.6539	M	0.80028	2.48	0.46981	D	0.99927	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86446	0.1770	10	0.87932	D	0	-28.0087	8.4034	0.32601	0.0:0.1434:0.5757:0.2809	.	422;423;422	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	W	423;422;381	ENSP00000378485:R423W;ENSP00000308734:R422W;ENSP00000378481:R381W	ENSP00000308734:R422W	R	-	1	2	MATK	3729527	1.000000	0.71417	0.784000	0.31847	0.492000	0.33523	2.550000	0.45811	-0.058000	0.13177	-0.240000	0.12126	CGG	.		0.647	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		A	3778527	G	A	3778527	3	1	36	1	0	0	0	0	1	0	0	0	9370	1144	40	1	267	1	MATK	19	3778527	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	2848774	3778527	55350456	87	8683											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_019107	0	0	2	6	4	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	36	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	891786	4670313	54458670	88	8684											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13319693	13319693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcggggggcgggggAtggtggtggtggtggtggtg	25	4	0	0	rs16051	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:13319693A>G	ENST00000360228.5	-	46	6656	c.6657T>C	c.(6655-6657)caT>caC	p.H2219H	CACNA1A_ENST00000573710.2_Silent_p.H2220H	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	2220	Poly-His.				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)	GGGGCGGGGGAtggtggtggt	0.731													g|||	3440	0.686901	0.7874	0.6081	5008	,	,		6615	0.7897		0.6252	False		,,,				2504	0.5644				p.H2220H		.											.	CACNA1A-67	0			c.T6660C						.		,,,,	2283,905		898,487,209	3	4	3		6675,6660,6657,6666,6675		1	19	dbSNP_54	3	3993,3127		1321,1351,888	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	2219,1838,1097	GG,GA,AA		43.9185,28.3877,39.1153	,,,,	2225/2267,2220/2262,2219/2507,2222/2264,2225/2513	13319693	6276,4032	1594	3560	5154	SO:0001819	synonymous_variant	773	exon46			CGGGGGATGGTGG	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.6657T>C	19.37:g.13319693A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	9	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																			A|0.360;G|0.640		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13319693	A	G	13319693	2	3	36	1	0	0	0	0	0	0	0	1	2545	330	12	4		4	CACNA1A	19	13319693	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	8649380	13319693	45809290	89	8685											
RAB8A	4218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16222725	16222725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatatggcgaagacctAcgattacctgttcaagctgc	10	9	1	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:16222725A>G	ENST00000300935.3	+	1	287	c.14A>G	c.(13-15)tAc>tGc	p.Y5C	RAB8A_ENST00000586682.1_Missense_Mutation_p.Y5C|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	5					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GCGAAGACCTACGATTACCTG	0.602																																					p.Y5C		.											.	RAB8A-227	0			c.A14G						.						180	180	180					19																	16222725		2203	4300	6503	SO:0001583	missense	4218	exon1			AGACCTACGATTA		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.14A>G	19.37:g.16222725A>G	ENSP00000300935:p.Tyr5Cys	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	105	40	NM_005370	0	0	1	3	2	B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640217	0.87859	.	.	ENSG00000167461	ENST00000300935	T	0.80304	-1.36	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88765	0.3260	10	0.87932	D	0	.	13.478	0.61320	1.0:0.0:0.0:0.0	.	5;5	B4DEK7;P61006	.;RAB8A_HUMAN	C	5	ENSP00000300935:Y5C	ENSP00000300935:Y5C	Y	+	2	0	RAB8A	16083725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.845000	0.75394	2.034000	0.60081	0.402000	0.26972	TAC	.		0.602	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		G	16222725	A	G	16222725	3	3	36	1	0	0	0	0	1	0	0	0	13001	391	14	4	16	4	RAB8A	19	16222725	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	2903032	16222725	42906258	90	8686											
CRTC1	23373	hgsc.bcm.edu	37	chr19	18879375	18879375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctcccagcagccaccGccgcagccccagcccccgcc	11	24	0	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:18879375G>A	ENST00000321949.8	+	10	1118	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	CRTC1_ENST00000338797.6_Silent_p.P380P|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.P323P	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCAgccaccgccgcagcccc	0.751																																					p.P380P		.											.	CRTC1-1361	0			c.G1140A						.						5	6	6					19																	18879375		1744	3552	5296	SO:0001819	synonymous_variant	23373	exon11			GCCACCGCCGCAG	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1092G>A	19.37:g.18879375G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	13	NM_001098482	0	0	1	2	1		Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																			.		0.751	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		A	18879375	G	A	18879375	2	1	36	1	0	0	0	0	0	0	0	1	3906	1074	38	1		1	CRTC1	19	18879375	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	2656650	18879375	40249608	91	8687											
GDF1	2657	hgsc.bcm.edu	37	chr19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgccccgcggccgagGcaggctccgaggcccgggtg	18	15	0	0	rs4808863	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2	2	2					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001492	0	0	0	5	5	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		A	18980172	G	A	18980172	3	1	36	1	0	0	0	0	1	0	0	0	6336	1203	42	3	769	3	GDF1	19	18980172	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	100797	18980172	40148811	92	8688											
DMKN	93099	hgsc.bcm.edu	37	chr19	36002386	36002386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccactgctgccgccaCtgctgccgccactgctgctg	10	19	0	0	rs56743379|rs117522133		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:36002386C>T	ENST00000339686.3	-	5	1021	c.845G>A	c.(844-846)aGt>aAt	p.S282N	DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S282N|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S282N|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S282N|DMKN_ENST00000440396.1_Missense_Mutation_p.S282N|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S282N	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	282	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)			gctgccgccactgctgccgcc	0.632																																					p.S282N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G845A						.						26	20	22					19																	36002386		2190	4261	6451	SO:0001583	missense	93099	exon5			CCGCCACTGCTGC	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.845G>A	19.37:g.36002386C>T	ENSP00000342012:p.Ser282Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	92	19	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007164	0.19199	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	3.03	0.883	0.19177	.	1.984400	0.02204	N	0.062511	T	0.35098	0.0920	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.12766	T	0.61	.	5.3636	0.16101	0.0:0.731:0.0:0.2689	.	282;282;282;282;282	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	282	ENSP00000342012:S282N;ENSP00000394908:S282N;ENSP00000415277:S282N;ENSP00000414743:S282N;ENSP00000388404:S282N;ENSP00000409513:S282N	ENSP00000342012:S282N	S	-	2	0	DMKN	40694226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	0.352000	0.24053	-0.221000	0.12465	AGT	C|0.945;T|0.055		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002386	C	T	36002386	3	4	36	1	0	0	0	0	1	0	0	0	4596	565	20	3	950	3	DMKN	19	36002386	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	17022214	36002386	23126597	93	8689			2	41		2	2	28	N	C_-	9.331948e-05
DMKN	93099	bcgsc.ca	37	chr19	36002413	36002414	+	Frame_Shift_Ins	INS	-	-	CCAGGAGGACTCACTGCCGCTGTCACCTCTGCTGCCACCACTGTTGCCAC													gccactgctgctgccactgcINStgctgccaccactgctgctg					rs149670759|rs12973565		TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:36002413_36002414insCCAGGAGGACTCACTGCCGCTGTCACCTCTGCTGCCACCACTGTTGCCAC	ENST00000339686.3	-	5	993_994	c.817_818insGTGGCAACAGTGGTGGCAGCAGAGGTGACAGCGGCAGTGAGTCCTCCTGG	c.(817-819)agcfs	p.-273fs	DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000418261.1_Frame_Shift_Ins_p.-273fs|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000424570.2_Frame_Shift_Ins_p.-273fs|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000451297.2_Frame_Shift_Ins_p.-273fs|DMKN_ENST00000440396.1_Frame_Shift_Ins_p.-273fs|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000447113.2_Frame_Shift_Ins_p.-273fs	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gctgccactgctgctgccacca	0.653																																					p.S273fs		.											.	DMKN-155	0			c.818_819insGTGGCAACAGTGGTGGCAGCAGAGGTGACAGCGGCAGTGAGTCCTCCTGG						.																																			SO:0001589	frameshift_variant	93099	exon5			CCACTGCTGCTGC	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.817_818insGTGGCAACAGTGGTGGCAGCAGAGGTGACAGCGGCAGTGAGTCCTCCTGG	19.37:g.36002413_36002414insCCAGGAGGACTCACTGCCGCTGTCACCTCTGCTGCCACCACTGTTGCCAC	ENSP00000342012:p.Ser273fs	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	108	0	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Frame_Shift_Ins	INS	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.653	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		CCAGGAGGACTCACTGCCGCTGTCACCTCTGCTGCCACCACTGTTGCCAC	36002414	-	CCAGGAGGACTCACTGCCGCTGTCACCTCTGCTGCCACCACTGTTGCCAC	36002413	7	5	36	1	0	1	1	0	0	0	0	0	4596	797	28	0	977	0	DMKN	19	36002413	Frame_Shift_Ins	INS	-	TCGA-OR-A5KU-01A-11D-A29I-10	27	36002413	23126570	94	8690			2	41		2	2	28	N	C_-	9.331948e-05
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	8	NM_148169	0	0	0	1	1	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	36	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	3438505	39440918	19688065	95	8691											
SFRS16	11129	hgsc.bcm.edu	37	chr19	45567668	45567668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagctcccgctccagctctCgctccagctcccgctctcgc	7	23	2	0	rs71352251	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:45567668C>A	ENST00000221455.3	+	13	1287	c.1189C>A	c.(1189-1191)Cgc>Agc	p.R397S	CLASRP_ENST00000391953.4_Missense_Mutation_p.R335S|CLASRP_ENST00000544944.2_Missense_Mutation_p.R397S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	397	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ctccagctctcgctccagctc	0.751													C|||	9	0.00179712	0	0.0014	5008	,	,		8999	0		0.008	False		,,,				2504	0				p.R397S		.											.	CLASRP-154	0			c.C1189A						.	C	SER/ARG	15,3921		0,15,1953	7	8	8		1189	2.2	0.9	19	dbSNP_130	8	110,7628		0,110,3759	yes	missense	CLASRP	NM_007056.2	110	0,125,5712	AA,AC,CC		1.4216,0.3811,1.0708	benign	397/675	45567668	125,11549	1968	3869	5837	SO:0001583	missense	11129	exon13			AGCTCTCGCTCCA	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1189C>A	19.37:g.45567668C>A	ENSP00000221455:p.Arg397Ser	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	33	9	NM_007056	0	0	1	5	4	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	9.225	1.034325	0.19590	0.003811	0.014216	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.10960	2.82;2.83;2.82;2.82	4.39	2.19	0.27852	.	0.442461	0.16641	N	0.205652	T	0.03695	0.0105	N	0.19112	0.55	0.47698	D	0.999495	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.29305	-1.0016	10	0.02654	T	1	-2.0521	9.152	0.36969	0.4644:0.5356:0.0:0.0	.	335;397;397	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	397;397;335;397	ENSP00000221455:R397S;ENSP00000375814:R397S;ENSP00000375815:R335S;ENSP00000438702:R397S	ENSP00000221455:R397S	R	+	1	0	CLASRP	50259508	0.075000	0.21258	0.922000	0.36590	0.800000	0.45204	0.653000	0.24902	0.414000	0.25790	0.563000	0.77884	CGC	C|0.996;A|0.004		0.751	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		A	45567668	C	A	45567668	3	1	36	1	0	0	0	0	1	0	0	0	14217	884	31	2	1235	2	SFRS16	19	45567668	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	6126750	45567668	13561315	96	8692											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_145807	0	0	0	3	3	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	36	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	3597284	49164952	9964031	97	8693											
RASIP1	54922	hgsc.bcm.edu	37	chr19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagccgggccaggcGgcccagcagtcgtggcaggt	17	12	0	2	rs2287922	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2	3	3		1801	4.2	1	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_017805	0	0	0	2	2	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49232226	G	A	49232226	3	1	36	1	0	0	0	0	1	0	0	0	13123	1116	39	1	1122	1	RASIP1	19	49232226	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	67274	49232226	9896757	98	8694											
NR1H2	7376	ucsc.edu	37	chr19	50881825	50881825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	11	8	2	3	rs55817866	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.Q173Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																					p.Q173Q		.											.	NR1H2-186	0			c.G519A						.						38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376	exon6			GAAACAGCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	112	5	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																			G|0.903;A|0.097		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	36	1	0	0	0	0	0	0	0	1	10656	962	34	3		3	NR1H2	19	50881825	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	1649599	50881825	8247158	99	8695											
EPN1	29924	hgsc.bcm.edu	37	chr19	56203229	56203229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtccccacggctgcccCcacctcggacccctggggcg	12	21	0	0	rs199806653	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr19:56203229C>T	ENST00000270460.6	+	7	1183	c.872C>T	c.(871-873)cCc>cTc	p.P291L	EPN1_ENST00000411543.2_Missense_Mutation_p.P377L|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Missense_Mutation_p.P266L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	291	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				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)		ACGGCTGCCCCCACCTCGGAC	0.741													C|||	19	0.00379393	8e-04	0.0115	5008	,	,		10553	0		0.008	False		,,,				2504	0.002				p.P377L		.											.	.	0			c.C1130T						.	C	LEU/PRO,LEU/PRO,LEU/PRO	0,3656		0,0,1828	21	25	24		797,872,1130	3	0.2	19		24	52,8060		0,52,4004	no	missense,missense,missense	EPN1	NM_013333.3,NM_001130072.1,NM_001130071.1	98,98,98	0,52,5832	TT,TC,CC		0.641,0.0,0.4419	benign,benign,benign	266/551,291/577,377/663	56203229	52,11716	1828	4056	5884	SO:0001583	missense	29924	exon7			CTGCCCCCACCTC	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.872C>T	19.37:g.56203229C>T	ENSP00000270460:p.Pro291Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	40	22	NM_001130071	0	0	14	37	23	Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	CCDS46199.1	15	0.006868131868131868	2	0.0040650406504065045	7	0.019337016574585635	0	0.0	6	0.0079155672823219	C	15.42	2.827463	0.50845	0.0	0.00641	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.17528	2.33;2.31;2.27	3.05	3.05	0.35203	.	0.565789	0.14428	N	0.320171	T	0.08891	0.0220	M	0.64170	1.965	0.80722	D	1	B;B;B;P	0.42518	0.421;0.288;0.421;0.782	B;B;B;B	0.36244	0.039;0.22;0.039;0.086	T	0.14699	-1.0463	10	0.27082	T	0.32	-9.0195	14.0049	0.64456	0.0:1.0:0.0:0.0	.	252;377;291;266	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	L	291;266;252;377	ENSP00000270460:P291L;ENSP00000085079:P266L;ENSP00000406209:P377L	ENSP00000085079:P266L	P	+	2	0	EPN1	60895041	0.002000	0.14202	0.157000	0.22605	0.710000	0.40934	0.972000	0.29409	2.030000	0.59900	0.462000	0.41574	CCC	C|0.994;T|0.006		0.741	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		T	56203229	C	T	56203229	3	4	36	1	0	0	0	0	1	0	0	0	5201	623	22	3	1235	3	EPN1	19	56203229	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	5321404	56203229	2925754	100	8696											
RRBP1	6238	broad.mit.edu	37	chr20	17617260	17617260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctccttcacgtgctcccGgtagctggcctgcatgcgtg	11	16	1	0	rs137981542	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr20:17617260G>T	ENST00000377813.1	-	6	2602	c.2299C>A	c.(2299-2301)Cgg>Agg	p.R767R	RRBP1_ENST00000360807.4_Silent_p.R334R|RRBP1_ENST00000246043.4_Silent_p.R767R|RRBP1_ENST00000377807.2_Silent_p.R334R|RRBP1_ENST00000455029.2_Silent_p.R108R			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	767					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACGTGCTCCCGGTAGCTGGCC	0.652																																					p.R334R		.											.	RRBP1-92	0			c.C1000A						.						86	77	80					20																	17617260		2203	4300	6503	SO:0001819	synonymous_variant	6238	exon6			GCTCCCGGTAGCT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2299C>A	20.37:g.17617260G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	142	4	NM_004587	0	1	216	217	0	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																				G|0.999;A|0.001		0.652	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		T	17617260	G	T	17617260	2	4	36	1	0	0	0	0	0	0	0	1	13723	1115	39	2		2	RRBP1	20	17617260	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		17617260	45408260	101	8697											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	36	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	19759879	37377139	25648381	102	8698											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G													gggtctcgggtgagccgcagCaatcgggggacggcagcctc					rs13049028	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2	2	2		892	-0.8	0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	7	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042579	C	G	36042579	3	3	36	1	0	0	0	0	1	0	0	0	3537	711	25	3	894	3	CLIC6	21	36042579	Missense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10		36042579	12087316	103	8699	76	2									
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A													tcgggtgagccgcagcaatcGggggacggcagcctctcgcc					rs13049239	byFrequency	TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	7	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	36	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	5	36042584	12087311	104	8700	76	2									
KRTAP10-7	386675	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	46021002	46021002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgccagcaggcctgcTgtgtgcccatctgctgcaag	11	17	1	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr21:46021002T>C	ENST00000380102.2	+	1	506	c.481T>C	c.(481-483)Tgt>Cgt	p.C161R	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	161	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCAGGCCTGCTGTGTGCCCAT	0.607																																					p.C156R		.											.	.	0			c.T466C						.						52	55	54					21																	46021002		2199	4274	6473	SO:0001583	missense	386675	exon2			GCCTGCTGTGTGC	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.481T>C	21.37:g.46021002T>C	ENSP00000369445:p.Cys161Arg	Somatic	524	0		WXS	Illumina GAIIx	Phase_I	1047	70	NM_198689	0	0	0	0	0	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	6.110	0.388618	0.11581	.	.	ENSG00000205441	ENST00000380102	T	0.02498	4.27	3.93	2.76	0.32466	.	.	.	.	.	T	0.08846	0.0219	H	0.95780	3.72	0.45962	D	0.998788	B	0.27656	0.184	B	0.27170	0.077	T	0.00597	-1.1652	9	0.66056	D	0.02	.	7.4598	0.27287	0.0:0.1111:0.0:0.8889	.	156	P60409-2	.	R	161	ENSP00000369445:C161R	ENSP00000369445:C161R	C	+	1	0	KRTAP10-7	44845430	0.340000	0.24792	0.163000	0.22734	0.091000	0.18340	0.700000	0.25601	0.502000	0.28037	0.377000	0.23210	TGT	.		0.607	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		C	46021002	T	C	46021002	3	2	36	1	0	0	0	0	1	0	0	0	8541	1580	55	4	472	4	KRTAP10-7	21	46021002	Missense_Mutation	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10	9978418	46021002	2108893	105	8701											
C22orf30	253143	broad.mit.edu	37	chr22	32108480	32108480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctgactatggacgccaGtgtcttccctgaatgttgcc	12	11	2	2			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr22:32108480G>A	ENST00000327423.6	-	4	5534	c.5345C>T	c.(5344-5346)aCt>aTt	p.T1782I	PRR14L_ENST00000397493.2_Missense_Mutation_p.T1782I|PRR14L_ENST00000434485.1_Missense_Mutation_p.T1782I	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1782										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATGGACGCCAGTGTCTTCCCT	0.577																																					p.T1782I		.											.	PRR14L-91	0			c.C5345T						.						104	114	111					22																	32108480		692	1591	2283	SO:0001583	missense	253143	exon4			ACGCCAGTGTCTT	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5345C>T	22.37:g.32108480G>A	ENSP00000331845:p.Thr1782Ile	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	66	4	NM_173566	0	0	1	1	0	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769436	0.49680	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.07567	3.19;3.22;3.18	5.59	3.41	0.39046	.	0.658044	0.14662	N	0.305917	T	0.06962	0.0177	L	0.34521	1.04	0.09310	N	0.999998	B;B;B	0.28850	0.225;0.225;0.225	B;B;B	0.27262	0.078;0.047;0.078	T	0.20605	-1.0270	10	0.35671	T	0.21	-0.0724	9.5255	0.39162	0.0749:0.0:0.7819:0.1432	.	1782;1782;1782	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	I	1782	ENSP00000380630:T1782I;ENSP00000331845:T1782I;ENSP00000388314:T1782I	ENSP00000331845:T1782I	T	-	2	0	PRR14L	30438480	0.299000	0.24426	0.983000	0.44433	0.918000	0.54935	2.884000	0.48562	2.621000	0.88768	0.655000	0.94253	ACT	.		0.577	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		A	32108480	G	A	32108480	3	1	36	1	0	0	0	0	1	0	0	0	2149	1029	36	3	1134	3	C22orf30	22	32108480	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10		32108480	19196086	106	8702											
SYNGR1	9145	broad.mit.edu	37	chr22	39777908	39777908	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagggctaccagtcgCagggctactgagccacagtg	13	14	0	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chr22:39777908C>T	ENST00000328933.5	+	4	706	c.691C>T	c.(691-693)Cag>Tag	p.Q231*		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	231					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTACCAGTCGCAGGGCTACTG	0.716																																					p.Q231X		.											.	SYNGR1-90	0			c.C691T						.						20	20	20					22																	39777908		2203	4297	6500	SO:0001587	stop_gained	9145	exon4			CAGTCGCAGGGCT	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.691C>T	22.37:g.39777908C>T	ENSP00000332287:p.Gln231*	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	108	4	NM_004711	0	0	0	0	0	A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Nonsense_Mutation	SNP	ENST00000328933.5	37	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159777	0.94727	.	.	ENSG00000100321	ENST00000328933	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.7429	0.88412	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000332287:Q231X	Q	+	1	0	SYNGR1	38107854	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.053000	0.76641	2.399000	0.81585	0.462000	0.41574	CAG	.		0.716	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		T	39777908	C	T	39777908	4	4	36	1	0	0	0	0	0	1	0	0	15495	711	25	3	908	3	SYNGR1	22	39777908	Nonsense_Mutation	SNP	C	TCGA-OR-A5KU-01A-11D-A29I-10	7669428	39777908	11526658	107	8703											
CCDC22	28952	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	49093667	49093667	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctctggcctcagcccTctgctgcctcttgccatgtc	11	16	4	0			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chrX:49093667T>A	ENST00000376227.3	+	2	335	c.165T>A	c.(163-165)ccT>ccA	p.P55P	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	55										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCCTCAGCCCTCTGCTGCCTC	0.627																																					p.P55P		.											.	CCDC22-130	0			c.T165A						.						86	62	70					X																	49093667		2203	4300	6503	SO:0001819	synonymous_variant	28952	exon2			CAGCCCTCTGCTG	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.165T>A	X.37:g.49093667T>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	82	25	NM_014008	0	0	13	13	0	A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																			.		0.627	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		A	49093667	T	A	49093667	2	1	36	1	0	0	0	0	0	0	0	1	2804	1538	54	5		5	CCDC22	23	49093667	Silent	SNP	T	TCGA-OR-A5KU-01A-11D-A29I-10		49093667	106176893	108	8704											
BHLHB9	80823	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	102003966	102003967	+	Frame_Shift_Ins	INS	-	-	A													aagagcccaggccaaaactgINSaaaaaaaggctgctatacaa							TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chrX:102003966_102003967insA	ENST00000372735.1	+	4	628_629	c.43_44insA	c.(43-45)gaafs	p.E15fs	BHLHB9_ENST00000448867.1_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000361229.4_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000447531.1_Frame_Shift_Ins_p.E15fs|BHLHB9_ENST00000457056.1_Frame_Shift_Ins_p.E15fs			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	15					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGCT	0.5																																					p.E15fs		.											.	BHLHB9-132	0			c.43_44insA						.																																			SO:0001589	frameshift_variant	80823	exon4			AAAACTGAAAAAA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.50dupA	X.37:g.102003973_102003973dupA	ENSP00000361820:p.Glu15fs	Somatic	354	0		WXS	Illumina GAIIx	Phase_I	340	75	NM_001142524	0	0	0	0	0	Q9C0G2	Frame_Shift_Ins	INS	ENST00000372735.1	37	CCDS14502.1																																																																																			.		0.5	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102003967	-	A	102003966	7	5	36	1	0	1	1	0	0	0	0	0	1422	1291	45	0	45	0	BHLHB9	23	102003966	Frame_Shift_Ins	INS	-	TCGA-OR-A5KU-01A-11D-A29I-10	52910299	102003966	53266594	109	8705											
OCRL	4952	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	128721082	128721082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagatcacctattcaaatAcgcctgtcaccaggtaagtg	8	10	3	1			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chrX:128721082A>G	ENST00000371113.4	+	20	2408	c.2243A>G	c.(2242-2244)tAc>tGc	p.Y748C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y740C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	748	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						CTATTCAAATACGCCTGTCAC	0.463																																					p.Y748C		.											.	OCRL-206	0			c.A2243G						.						137	123	128					X																	128721082		2203	4300	6503	SO:0001583	missense	4952	exon20			TCAAATACGCCTG	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.2243A>G	X.37:g.128721082A>G	ENSP00000360154:p.Tyr748Cys	Somatic	275	1		WXS	Illumina GAIIx	Phase_I	299	59	NM_000276	0	0	0	0	0	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322827	0.41096	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.19250	2.16;2.16	5.46	5.46	0.80206	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.290276	0.36409	N	0.002605	T	0.34629	0.0904	L	0.43923	1.385	0.20196	N	0.999926	P;D	0.63046	0.907;0.992	P;P	0.61874	0.517;0.895	T	0.13575	-1.0504	10	0.42905	T	0.14	.	13.3441	0.60561	1.0:0.0:0.0:0.0	.	740;748	Q01968-2;Q01968	.;OCRL_HUMAN	C	748;740	ENSP00000360154:Y748C;ENSP00000349635:Y740C	ENSP00000349635:Y740C	Y	+	2	0	OCRL	128548763	0.956000	0.32656	0.018000	0.16275	0.122000	0.20287	6.523000	0.73787	1.830000	0.53286	0.481000	0.45027	TAC	.		0.463	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		G	128721082	A	G	128721082	3	3	36	1	0	0	0	0	1	0	0	0	10862	391	14	4	2321	4	OCRL	23	128721082	Missense_Mutation	SNP	A	TCGA-OR-A5KU-01A-11D-A29I-10	26717116	128721082	26549478	110	8706											
CNGA2	1260	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	150912699	150912699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctagaagagaggggtcGggagatcctcatgaaggagg	17	6	1	4			TCGA-OR-A5KU-01A-11D-A29I-10	TCGA-OR-A5KU-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e9652ca0-126e-4332-909a-4e2d2fc489ef	68f72637-d9e1-41a6-8bd0-b4f99bbc13a1	g.chrX:150912699G>A	ENST00000329903.4	+	6	1757	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	575					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGGTCGGGAGATCCTC	0.537																																					p.R575Q		.											.	CNGA2-193	0			c.G1724A						.						140	122	128					X																	150912699		2203	4300	6503	SO:0001583	missense	1260	exon7			GGGGTCGGGAGAT	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1724G>A	X.37:g.150912699G>A	ENSP00000328478:p.Arg575Gln	Somatic	126	1		WXS	Illumina GAIIx	Phase_I	166	43	NM_005140	0	0	0	0	0	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160490	0.57368	.	.	ENSG00000183862	ENST00000329903	D	0.97710	-4.5	5.33	5.33	0.75918	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.68593	2.085	0.58432	D	0.99999	P	0.48503	0.911	B	0.28991	0.097	D	0.95662	0.8716	10	0.62326	D	0.03	.	15.3498	0.74373	0.0:0.0:1.0:0.0	.	575	Q16280	CNGA2_HUMAN	Q	575	ENSP00000328478:R575Q	ENSP00000328478:R575Q	R	+	2	0	CNGA2	150663355	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	6.413000	0.73308	2.216000	0.71823	0.529000	0.55759	CGG	.		0.537	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912699	G	A	150912699	3	1	36	1	0	0	0	0	1	0	0	0	3604	1116	39	1	1746	1	CNGA2	23	150912699	Missense_Mutation	SNP	G	TCGA-OR-A5KU-01A-11D-A29I-10	22191617	150912699	4357861	111	8707											
HES3	390992	hgsc.bcm.edu	37	chr1	6305292	6305292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcgctgccccctggtgCccgagagcgccgccggcagc	15	19	0	1	rs61760836	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:6305292C>A	ENST00000377898.3	+	4	351	c.286C>A	c.(286-288)Ccc>Acc	p.P96T		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	96	Orange.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CCCCCTGGTGCCCGAGAGCGC	0.751													C|||	2794	0.557907	0.3079	0.755	5008	,	,		7447	0.5615		0.6849	False		,,,				2504	0.6217				p.P96T		.											.	HES3-514	0			c.C286A						.	C	THR/PRO	1430,1518		391,648,435	2	3	2		286	2.4	0.2	1	dbSNP_129	2	4911,1731		1926,1059,336	no	missense	HES3	NM_001024598.3	38	2317,1707,771	AA,AC,CC		26.0614,48.5075,33.879	benign	96/187	6305292	6341,3249	1474	3321	4795	SO:0001583	missense	390992	exon4			CTGGTGCCCGAGA		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.286C>A	1.37:g.6305292C>A	ENSP00000367130:p.Pro96Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001024598	0	0	0	0	0	Q5TGS0	Missense_Mutation	SNP	ENST00000377898.3	37	CCDS41238.1	1241	0.5682234432234432	158	0.32113821138211385	254	0.7016574585635359	313	0.5472027972027972	516	0.6807387862796834	C	2.270	-0.367136	0.05069	0.485075	0.739386	ENSG00000173673	ENST00000377898	T	0.29397	1.57	3.31	2.4	0.29515	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.22003	0.063	B	0.17098	0.017	T	0.30765	-0.9967	8	0.11794	T	0.64	-26.1056	6.4315	0.21798	0.0:0.8639:0.0:0.1361	rs61760836	96	Q5TGS1	HES3_HUMAN	T	96	ENSP00000367130:P96T	ENSP00000367130:P96T	P	+	1	0	HES3	6227879	0.724000	0.28038	0.207000	0.23584	0.040000	0.13550	1.220000	0.32491	0.982000	0.38575	0.289000	0.19496	CCC	C|0.430;A|0.570		0.751	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		A	6305292	C	A	6305292	3	1	37	1	0	0	0	0	1	0	0	0	7094	739	26	3	296	3	HES3	1	6305292	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		6305292	242945329	1	8708											
CNR2	1269	bcgsc.ca	37	chr1	24201357	24201357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaggagcacagccaAcactagccctagggtcttgg	12	11	1	2	rs4649124	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:24201357A>G	ENST00000374472.4	-	2	912	c.751T>C	c.(751-753)Ttg>Ctg	p.L251L	CNR2_ENST00000536471.1_Silent_p.L251L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	251					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	AGCACAGCCAACACTAGCCCT	0.597													G|||	3272	0.653355	0.7943	0.6383	5008	,	,		21118	0.502		0.5875	False		,,,				2504	0.6973				p.L251L		.											.	CNR2-228	0			c.T751C						.	G		3310,1096	396.0+/-329.9	1261,788,154	93	74	80		751	1.7	1	1	dbSNP_111	80	4935,3665	526.0+/-380.9	1402,2131,767	no	coding-synonymous	CNR2	NM_001841.2		2663,2919,921	GG,GA,AA		42.6163,24.8752,36.6062		251/361	24201357	8245,4761	2203	4300	6503	SO:0001819	synonymous_variant	1269	exon2			CAGCCAACACTAG	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.751T>C	1.37:g.24201357A>G		Somatic	197	4		WXS	Illumina GAIIx	Phase_I	203	7	NM_001841	0	0	0	0	0	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																			A|0.358;G|0.642		0.597	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		G	24201357	A	G	24201357	2	3	37	1	0	0	0	0	0	0	0	1	3639	40	2	4		4	CNR2	1	24201357	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	17896065	24201357	225049264	2	8709											
SFN	2810	broad.mit.edu	37	chr1	27189835	27189835	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcgaagagcgaaacctgctCtcagtagcctataagaacgt	10	10	1	2			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:27189835C>G	ENST00000339276.4	+	1	203	c.132C>G	c.(130-132)ctC>ctG	p.L44L		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAAACCTGCTCTCAGTAGCCT	0.602																																					p.L44L		.											.	SFN-658	0			c.C132G						.						48	50	49					1																	27189835		2203	4300	6503	SO:0001819	synonymous_variant	2810	exon1			CCTGCTCTCAGTA	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"14-3-3 sigma"	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.132C>G	1.37:g.27189835C>G		Somatic	265	0		WXS	Illumina GAIIx	Phase_I	263	7	NM_006142	0	0	0	0	0	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	CCDS288.1																																																																																			.		0.602	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		G	27189835	C	G	27189835	2	3	37	1	0	0	0	0	0	0	0	1	14204	900	32	3		3	SFN	1	27189835	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	2988478	27189835	222060786	3	8710											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	37	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	1949140	29138975	220111646	4	8711											
PRPF38A	84950	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	52878204	52878204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaacgctatgtattagagGaagctgagcaactggagcct	12	7	0	3			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:52878204G>A	ENST00000257181.9	+	5	703	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	173					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						TGTATTAGAGGAAGCTGAGCA	0.478																																					p.E173K		.											.	PRPF38A-90	0			c.G517A						.						82	85	84					1																	52878204		2203	4300	6503	SO:0001583	missense	84950	exon5			TTAGAGGAAGCTG	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.517G>A	1.37:g.52878204G>A	ENSP00000257181:p.Glu173Lys	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	98	7	NM_032864	0	0	47	50	3	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444230	0.96187	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.75264	2.295	0.80722	D	1	P	0.38250	0.624	P	0.46718	0.525	T	0.64972	-0.6281	9	0.07030	T	0.85	-16.8095	19.9161	0.97063	0.0:0.0:1.0:0.0	.	173	Q8NAV1	PR38A_HUMAN	K	173	.	ENSP00000257181:E173K	E	+	1	0	PRPF38A	52650792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.710000	0.92621	0.650000	0.86243	GAA	.		0.478	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		A	52878204	G	A	52878204	3	1	37	1	0	0	0	0	1	0	0	0	12609	1175	41	3	535	3	PRPF38A	1	52878204	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	23739229	52878204	196372417	5	8712											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	19	7	NM_018364	0	0	0	0	0	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	37	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	61476450	114354654	134895967	6	8713											
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_024408	0	0	0	0	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	37	1	0	0	0	0	1	0	0	0	10587	1079	38	2	7494	2	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	6257310	120611964	128638657	7	8714											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	37	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	32621737	153233701	96016920	8	8715											
CENPF	1063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	214816610	214816610	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagctggaagtagcacgactCcagctacaaggtctggactt	12	10	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:214816610C>G	ENST00000366955.3	+	12	5097	c.4929C>G	c.(4927-4929)ctC>ctG	p.L1643L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1739					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)		TAGCACGACTCCAGCTACAAG	0.473																																					p.L1643L	Colon(80;575 1284 11000 14801 43496)	.											.	CENPF-567	0			c.C4929G						.						88	79	82					1																	214816610		2203	4300	6503	SO:0001819	synonymous_variant	1063	exon12			ACGACTCCAGCTA	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.4929C>G	1.37:g.214816610C>G		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	140	71	NM_016343	0	0	0	1	1	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			.		0.473	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214816610	C	G	214816610	2	3	37	1	0	0	0	0	0	0	0	1	3238	842	30	3		3	CENPF	1	214816610	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	61582909	214816610	34434011	9	8716											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_001271223	0	0	1	1	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	37	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	13688060	228504670	20745951	10	8717											
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	237811822	237811822	+	Frame_Shift_Del	DEL	G	G	-													catggttttattccttgacaGggtctatgggattgaggttc							TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr1:237811822delG	ENST00000366574.2	+	49	7738	c.7421delG	c.(7420-7422)aggfs	p.R2474fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.R2472fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.R2458fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2474	4 X approximate repeats.		R -> S (in CPVT1). {ECO:0000269|PubMed:11208676, ECO:0000269|PubMed:12093772}.		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)			TTCCTTGACAGGGTCTATGGG	0.483																																					p.R2474fs		.											.	RYR2-158	0			c.7421delG						.						108	100	103					1																	237811822		1919	4143	6062	SO:0001589	frameshift_variant	6262	exon49			TTGACAGGGTCTA	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.7421delG	1.37:g.237811822delG	ENSP00000355533:p.Arg2474fs	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	213	94	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		-	237811822	G	-	237811822	7	5	37	1	0	1	0	1	0	0	0	0	13814	1000	35	0	7615	0	RYR2	1	237811822	Frame_Shift_Del	DEL	G	TCGA-OR-A5KV-01A-11D-A29I-10	9307152	237811822	11438799	11	8718											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	37	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		1481231	241718142	12	8719											
MYT1L	23040	bcgsc.ca	37	chr2	1805503	1805503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcatatcggcttccatctGggaattggattcatttagct	8	8	3	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:1805503G>T	ENST00000399161.2	-	23	3988	c.3241C>A	c.(3241-3243)Cag>Aag	p.Q1081K	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q1079K|MYT1L_ENST00000407844.1_Missense_Mutation_p.Q77K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1081					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)		GCTTCCATCTGGGAATTGGAT	0.348																																					p.Q1079K		.											.	MYT1L-95	0			c.C3235A						.						220	220	220					2																	1805503		1807	4084	5891	SO:0001583	missense	23040	exon23			CCATCTGGGAATT	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.3241C>A	2.37:g.1805503G>T	ENSP00000382114:p.Gln1081Lys	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	10.68	1.417498	0.25552	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.42131	0.98;2.49;0.98	5.03	5.03	0.67393	.	0.106394	0.64402	D	0.000003	T	0.24586	0.0596	N	0.16790	0.44	0.80722	D	1	B;P;P	0.47910	0.073;0.842;0.902	B;B;B	0.38264	0.059;0.138;0.269	T	0.15093	-1.0449	10	0.02654	T	1	-37.2138	18.558	0.91091	0.0:0.0:1.0:0.0	.	77;1081;1079	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	K	1081;1027;77;135;1079	ENSP00000382114:Q1081K;ENSP00000382111:Q135K;ENSP00000396103:Q1079K	ENSP00000295067:Q1027K	Q	-	1	0	MYT1L	1784510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.562000	0.98145	2.581000	0.87130	0.655000	0.94253	CAG	.		0.348	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1805503	G	T	1805503	3	4	37	1	0	0	0	0	1	0	0	0	10145	1357	47	3	331	3	MYT1L	2	1805503	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	324272	1805503	241393870	13	8720											
NTSR2	23620	hgsc.bcm.edu	37	chr2	11809650	11809650	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctggataaagacttggagCgcggtgcggctcaccagcac	13	12	1	1	rs199659575	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:11809650C>G	ENST00000306928.5	-	1	640	c.606G>C	c.(604-606)gcG>gcC	p.A202A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	202					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGACTTGGAGCGCGGTGCGGC	0.706													C|||	5	0.000998403	0	0	5008	,	,		8018	0		0.003	False		,,,				2504	0.002				p.A202A		.											.	NTSR2-946	0			c.G606C						.	C		3,3319		0,3,1658	11	13	13		606	1.2	0.5	2		13	22,6698		0,22,3338	no	coding-synonymous	NTSR2	NM_012344.3		0,25,4996	GG,GC,CC		0.3274,0.0903,0.249		202/411	11809650	25,10017	1661	3360	5021	SO:0001819	synonymous_variant	23620	exon1			TTGGAGCGCGGTG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.606G>C	2.37:g.11809650C>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	20	14	NM_012344	0	0	0	0	0	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																			C|0.994;G|0.006		0.706	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			G	11809650	C	G	11809650	2	3	37	1	0	0	0	0	0	0	0	1	10750	755	27	2		2	NTSR2	2	11809650	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	10004147	11809650	231389723	14	8721											
TEKT4	150483	ucsc.edu	37	chr2	95542377	95542377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagcggagcagtccctgCgcaacctcgaggacatccac	11	14	0	1	rs72817671	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:95542377C>T	ENST00000295201.4	+	6	1308	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	391					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCAGTCCCTGCGCAACCTCGA	0.587																																					p.R391C		.											.	TEKT4-155	0			c.C1171T						.						71	55	60					2																	95542377		2203	4300	6503	SO:0001583	missense	150483	exon6			TCCCTGCGCAACC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1171C>T	2.37:g.95542377C>T	ENSP00000295201:p.Arg391Cys	Somatic	63	6		WXS	Illumina GAIIx	Phase_I	72	9	NM_144705	0	0	0	0	0		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192966	0.21954	.	.	ENSG00000163060	ENST00000295201	T	0.02709	4.19	2.43	1.05	0.20165	.	0.502966	0.19838	N	0.104906	T	0.03136	0.0092	L	0.52364	1.645	0.80722	D	1	B	0.20780	0.048	B	0.17098	0.017	T	0.40365	-0.9567	10	0.56958	D	0.05	-8.5236	6.0949	0.20015	0.5496:0.4504:0.0:0.0	.	391	Q8WW24	TEKT4_HUMAN	C	391	ENSP00000295201:R391C	ENSP00000295201:R391C	R	+	1	0	TEKT4	94906104	0.584000	0.26766	0.970000	0.41538	0.573000	0.36030	0.077000	0.14738	1.049000	0.40321	0.281000	0.19383	CGC	C|0.704;T|0.296		0.587	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95542377	C	T	95542377	3	4	37	1	0	0	0	0	1	0	0	0	15802	768	27	1	1193	1	TEKT4	2	95542377	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	83732727	95542377	147656996	15	8722											
UBR3	130507	broad.mit.edu;bcgsc.ca	37	chr2	170762566	170762566	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacttaaacaagcgagaactAaacgagcatgtggaatttga	9	6	0	2	rs10194785	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:170762566A>T	ENST00000272793.5	+	10	1721	c.1671A>T	c.(1669-1671)ctA>ctT	p.L557L	UBR3_ENST00000418381.1_Silent_p.L557L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	557					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						AGCGAGAACTAAACGAGCATG	0.408													A|||	1388	0.277157	0.2663	0.1945	5008	,	,		16538	0.376		0.1581	False		,,,				2504	0.3712				p.L557L		.											.	UBR3-68	0			c.A1671T						.	A		383,1001		58,267,367	119	103	108		1671	1.6	1	2	dbSNP_119	108	545,2637		49,447,1095	no	coding-synonymous	UBR3	NM_172070.3		107,714,1462	TT,TA,AA		17.1276,27.6734,20.3241		557/1889	170762566	928,3638	692	1591	2283	SO:0001819	synonymous_variant	130507	exon10			AGAACTAAACGAG	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.1671A>T	2.37:g.170762566A>T		Somatic	112	1		WXS	Illumina GAIIx	Phase_I	92	6	NM_172070	0	0	3	3	0	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																				A|0.748;T|0.252		0.408	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		T	170762566	A	T	170762566	2	4	37	1	0	0	0	0	0	0	0	1	16952	349	13	5		5	UBR3	2	170762566	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	75220189	170762566	72436807	16	8723											
CCDC150	284992	hgsc.bcm.edu	37	chr2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-													agaactactggcccaggaacAaaaaaaaaaagaagagttgg					rs75642251|rs376590781		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																					p.Q280fs		.											.	.	0			c.839delA						.			178,205,3109		1,0,176,1,203,1365	43	43	43			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	SO:0001589	frameshift_variant	284992	exon7			AGGAACAAAAAAA		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.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	217	15	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		-	197531519	A	-	197531519	7	5	37	1	0	1	0	1	0	0	0	0	2792	130	5	0	865	0	CCDC150	2	197531519	Frame_Shift_Del	DEL	A	TCGA-OR-A5KV-01A-11D-A29I-10	26768953	197531519	45667854	17	8724											
ALPPL2	251	hgsc.bcm.edu	37	chr2	233274476	233274476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgacctggcgccccGcgccggcaccaccgacgccg	13	22	0	0	rs114768772		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:233274476G>C	ENST00000295453.3	+	11	1545	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	498				R -> P (in Ref. 1; AAA98616 and 4; CAA39425). {ECO:0000305}.|R -> S (in Ref. 3; CAA37374). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTGGCGCCCCGCGCCGGCACC	0.726																																					p.R498P		.											.	ALPPL2-91	0			c.G1493C						.						12	16	15					2																	233274476		2172	4236	6408	SO:0001583	missense	251	exon11			CGCCCCGCGCCGG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1493G>C	2.37:g.233274476G>C	ENSP00000295453:p.Arg498Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	12	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	194	0.08882783882783883	42	0.08536585365853659	21	0.058011049723756904	71	0.12412587412587413	60	0.079155672823219	a	0.009	-1.842776	0.00568	.	.	ENSG00000163286	ENST00000295453	D	0.95622	-3.76	2.39	1.49	0.22878	Alkaline-phosphatase-like, core domain (1);	0.504996	0.18426	N	0.141584	T	0.05640	0.0148	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55425	-0.8143	10	0.02654	T	1	.	6.1524	0.20318	0.3771:0.4391:0.1839:0.0	.	498	P10696	PPBN_HUMAN	P	498	ENSP00000295453:R498P	ENSP00000295453:R498P	R	+	2	0	ALPPL2	232982720	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.066000	0.11598	-0.037000	0.13646	-2.747000	0.00125	CGC	G|0.946;C|0.054		0.726	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		C	233274476	G	C	233274476	3	2	37	1	0	0	0	0	1	0	0	0	549	1087	38	2	1535	2	ALPPL2	2	233274476	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	35742957	233274476	9924897	18	8725											
SNED1	25992	hgsc.bcm.edu	37	chr2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcgcctgccggagcTgcgcctgctcaatgaccaca	12	18	1	1	rs17440466	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P|MTERFD2_ENST00000464344.2_5'Flank	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		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)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5	6	6		3683	4.4	1	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	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.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	19	10	NM_001080437	0	0	4	10	6	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	242011084	T	C	242011084	3	2	37	1	0	0	0	0	1	0	0	0	14890	1580	55	4	3781	4	SNED1	2	242011084	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	8736608	242011084	1188289	19	8726											
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	391155	391155	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtctcctaccaggacaAaggaaattatcgctgcacag	9	10	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr3:391155A>T	ENST00000256509.2	+	10	1604	c.962A>T	c.(961-963)aAa>aTa	p.K321I	CHL1_ENST00000397491.2_Missense_Mutation_p.K305I	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	811	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACCAGGACAAAGGAAATTAT	0.408																																					p.K321I		.											.	CHL1-583	0			c.A962T						.						109	110	110					3																	391155		2203	4300	6503	SO:0001583	missense	10752	exon8			AGGACAAAGGAAA	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.962A>T	3.37:g.391155A>T	ENSP00000256509:p.Lys321Ile	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	134	59	NM_001253388	0	0	0	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451242	0.43531	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.68331	-0.32;-0.32	5.46	-3.14	0.05250	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.482216	0.24347	N	0.039303	T	0.45074	0.1324	N	0.13043	0.29	0.27120	N	0.962165	B;B;P	0.35542	0.101;0.101;0.508	B;B;B	0.39503	0.119;0.119;0.301	T	0.45454	-0.9260	10	0.56958	D	0.05	.	7.9619	0.30076	0.4381:0.1233:0.4386:0.0	.	305;305;321	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	321;305	ENSP00000256509:K321I;ENSP00000380628:K305I	ENSP00000256509:K321I	K	+	2	0	CHL1	366155	1.000000	0.71417	0.927000	0.36925	0.653000	0.38743	1.482000	0.35486	-0.721000	0.04929	-0.297000	0.09499	AAA	.		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	391155	A	T	391155	3	4	37	1	0	0	0	0	1	0	0	0	3356	14	1	5	992	5	CHL1	3	391155	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10		391155	197631275	20	8727											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	37	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	122240741	122631896	75390534	21	8728											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733053	126733053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcccggccctgcgCgagagctgcggcctctgcct	13	16	1	1	rs11719489	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18	21	20		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	18	NM_032242	0	0	0	1	1		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733053	C	T	126733053	2	4	37	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLXNA1	3	126733053	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	4101157	126733053	71289377	22	8729											
SHOX2	6474	hgsc.bcm.edu	37	chr3	157823581	157823582	+	In_Frame_Ins	INS	-	-	CACCTCCTC													gcctgctcctcctcctcctaINScacctcctccgcctcctccg							TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr3:157823581_157823582insCACCTCCTC	ENST00000425436.3	-	1	257_258	c.232_233insGAGGAGGTG	c.(232-234)gta>gGAGGAGGTGta	p.77_78insGGG	SHOX2_ENST00000389589.4_In_Frame_Ins_p.77_78insGGG|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_In_Frame_Ins_p.77_78insGGG|RSRC1_ENST00000480820.1_5'Flank	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	77	Poly-Gly.				cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			tcctcctcctacacctcctccg	0.787																																					p.V78delinsGGGV		.											.	SHOX2-90	0			c.233_234insGAGGAGGTG						.		,,	21,2419		6,9,1205					,,	-1	0.6			7	162,5396		41,80,2658	no	coding,coding,coding	SHOX2	NM_006884.3,NM_003030.4,NM_001163678.1	,,	47,89,3863	A1A1,A1R,RR		2.9147,0.8607,2.2881	,,	,,		183,7815				SO:0001652	inframe_insertion	6474	exon1			CCTCCTACACCTC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.224_232dupGAGGAGGTG	3.37:g.157823582_157823590dupCACCTCCTC	ENSP00000398704:p.Gly80_Gly81dup	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	39	12	NM_001163678	0	0	0	0	0	O60465|O60467|O60903	In_Frame_Ins	INS	ENST00000425436.3	37	CCDS43164.1																																																																																			.		0.787	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			CACCTCCTC	157823582	-	CACCTCCTC	157823581	7	5	37	1	0	1	1	0	0	0	0	0	14334	391	14	0	858	0	SHOX2	3	157823581	In_Frame_Ins	INS	-	TCGA-OR-A5KV-01A-11D-A29I-10	31090528	157823581	40198849	23	8730											
TNIP2	79155	hgsc.bcm.edu	37	chr4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctgctcccggaagcGcgcaacctgctccagcagcg	12	17	0	0	rs74548850	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5	7	6		217	2.8	1	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	8	NM_024309	0	0	1	1	0		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		C	2757800	G	C	2757800	3	2	37	1	0	0	0	0	1	0	0	0	16362	1087	38	2	1096	2	TNIP2	4	2757800	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		2757800	188396476	24	8731											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044357	7044357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggctcctcagccccAacctcggccggctcttcggg	14	17	2	0	rs871133	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1		0.9702	False		,,,				2504	1				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3	3	3		309	-4.5	0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	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.309T>C	4.37:g.7044357A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_153376	0	0	0	0	0	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		G	7044357	A	G	7044357	2	3	37	1	0	0	0	0	0	0	0	1	2881	117	5	4		4	CCDC96	4	7044357	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	4286557	7044357	184109919	25	8732											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	37	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	70773845	77818202	113336074	26	8733											
NSUN2	54888	hgsc.bcm.edu	37	chr5	6633042	6633042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgccatcctccgcgtcCtccggccgctgctgttgctg	12	18	0	0	rs10062086	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000274192.5_5'Flank|NSUN2_ENST00000539938.1_5'UTR|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000538824.1_5'Flank|NSUN2_ENST00000506139.1_Silent_p.E17E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					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						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2	3	2					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	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.51G>A	5.37:g.6633042C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_017755	0	0	0	6	6	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6633042	C	T	6633042	2	4	37	1	0	0	0	0	0	0	0	1	10717	680	24	3		3	NSUN2	5	6633042	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		6633042	174282218	27	8734											
NPR3	4883	broad.mit.edu	37	chr5	32712221	32712221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gactgtgggaaccgtgcgctCttcagcttggtggaccgcgt	15	11	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:32712221C>T	ENST00000265074.8	+	1	682	c.339C>T	c.(337-339)ctC>ctT	p.L113L	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.L113L|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	113					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACCGTGCGCTCTTCAGCTTGG	0.687																																					p.L113L		.											.	NPR3-91	0			c.C339T						.						55	62	60					5																	32712221		1978	4157	6135	SO:0001819	synonymous_variant	4883	exon1			TGCGCTCTTCAGC		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.339C>T	5.37:g.32712221C>T		Somatic	141	0		WXS	Illumina GAIIx	Phase_I	261	7	NM_000908	0	0	0	0	0	A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	CCDS56357.1																																																																																			.		0.687	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		T	32712221	C	T	32712221	2	4	37	1	0	0	0	0	0	0	0	1	10635	900	32	3		3	NPR3	5	32712221	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	26079179	32712221	148203039	28	8735											
C5orf42	65250	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	37196023	37196023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggtctaaaaaatgCgatacctcctttacagtaat	6	10	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:37196023C>T	ENST00000508244.1	-	20	3841	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	C5orf42_ENST00000274258.7_Missense_Mutation_p.A131T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1250T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1250						integral component of membrane (GO:0016021)		p.A131T(1)|p.A1250T(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTAAAAAATGCGATACCTCCT	0.383																																					p.A1250T		.											.	C5orf42-94	2	Substitution - Missense(2)	large_intestine(2)	c.G3748A						.						107	103	105					5																	37196023		2203	4300	6503	SO:0001583	missense	65250	exon21			AAAATGCGATACC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3748G>A	5.37:g.37196023C>T	ENSP00000421690:p.Ala1250Thr	Somatic	342	0		WXS	Illumina GAIIx	Phase_I	320	19	NM_023073	0	0	1	1	0	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	6.122	0.390827	0.11581	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25414	1.85;1.85;1.8;1.81	5.21	0.283	0.15696	.	1.862560	0.02967	N	0.143909	T	0.13586	0.0329	N	0.12182	0.205	0.09310	N	1	B;B	0.22541	0.021;0.071	B;B	0.15870	0.014;0.014	T	0.15178	-1.0446	10	0.24483	T	0.36	.	3.554	0.07857	0.2388:0.5158:0.1154:0.13	.	1250;131	E9PH94;Q9H799	.;CE042_HUMAN	T	1250;1250;131;298;131	ENSP00000421690:A1250T;ENSP00000389014:A1250T;ENSP00000274258:A131T;ENSP00000424223:A298T	ENSP00000274258:A131T	A	-	1	0	C5orf42	37231780	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.381000	0.20619	-0.176000	0.10707	-0.755000	0.03482	GCA	.		0.383	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37196023	C	T	37196023	3	4	37	1	0	0	0	0	1	0	0	0	2308	768	27	1	5973	1	C5orf42	5	37196023	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	4483802	37196023	143719237	29	8736											
RAD17	5884	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	68670480	68670480	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgctgtgcataaaaagaAaattgaagaagtcgaaacct	8	6	0	3			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:68670480A>T	ENST00000509734.1	+	5	1004	c.326A>T	c.(325-327)aAa>aTa	p.K109I	RAD17_ENST00000354868.5_Missense_Mutation_p.K98I|RAD17_ENST00000354312.3_Missense_Mutation_p.K98I|RAD17_ENST00000282891.6_Missense_Mutation_p.K12I|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Missense_Mutation_p.K98I|RAD17_ENST00000345306.6_Missense_Mutation_p.K98I|RAD17_ENST00000380774.3_Missense_Mutation_p.K109I|RAD17_ENST00000361732.2_Missense_Mutation_p.K98I|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	109					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)		CATAAAAAGAAAATTGAAGAA	0.284								Other conserved DNA damage response genes																													p.K109I		.											.	RAD17-205	0			c.A326T						.						51	56	54					5																	68670480		2203	4293	6496	SO:0001583	missense	5884	exon3			AAAAGAAAATTGA	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.326A>T	5.37:g.68670480A>T	ENSP00000426191:p.Lys109Ile	Somatic	266	0		WXS	Illumina GAIIx	Phase_I	304	100	NM_133339	0	0	2	3	1	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342999	0.82022	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000354312;ENST00000345306;ENST00000506564;ENST00000305138;ENST00000282891;ENST00000380774	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.77678	-0.2498	10	0.87932	D	0	-28.2745	14.3504	0.66697	1.0:0.0:0.0:0.0	.	109;12;98	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	I	98;109;98;98;98;98;98;12;109	ENSP00000355226:K98I;ENSP00000426191:K109I;ENSP00000346938:K98I;ENSP00000346271:K98I;ENSP00000311227:K98I;ENSP00000424696:K98I;ENSP00000303134:K98I;ENSP00000282891:K12I;ENSP00000370151:K109I	ENSP00000282891:K12I	K	+	2	0	RAD17	68706236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	2.101000	0.63845	0.496000	0.49642	AAA	.		0.284	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		T	68670480	A	T	68670480	3	4	37	1	0	0	0	0	1	0	0	0	13024	14	1	5	349	5	RAD17	5	68670480	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	31474457	68670480	112244780	30	8737											
RGNEF	64283	broad.mit.edu;bcgsc.ca	37	chr5	73165981	73165981	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagtcttgtggtggatccctCattttgtaataggcaggaga	13	6	2	1	rs371533538		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:73165981C>A	ENST00000426542.2	+	20	2533	c.2513C>A	c.(2512-2514)tCa>tAa	p.S838*	ARHGEF28_ENST00000545377.1_Nonsense_Mutation_p.S838*|ARHGEF28_ENST00000296799.4_Nonsense_Mutation_p.S525*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.S838*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.S838*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.S838*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.S838*			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	838					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GTGGATCCCTCATTTTGTAAT	0.438																																					p.S838X		.											.	.	0			c.C2513A						.						152	143	146					5																	73165981		1908	4129	6037	SO:0001587	stop_gained	64283	exon21			ATCCCTCATTTTG		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2513C>A	5.37:g.73165981C>A	ENSP00000412175:p.Ser838*	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	254	11	NM_001080479	0	0	5	5	0	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Nonsense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	39	7.300385	0.98196	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	.	.	.	5.77	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	8.1113	0.30916	0.0:0.6586:0.0:0.3414	.	.	.	.	X	838;838;838;838;838;838;525	.	ENSP00000287898:S838X	S	+	2	0	RP11-428C6.1	73201737	0.000000	0.05858	0.365000	0.25901	0.868000	0.49771	1.057000	0.30492	0.726000	0.32339	0.655000	0.94253	TCA	.		0.438	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73165981	C	A	73165981	4	1	37	1	0	0	0	0	0	1	0	0	13328	838	29	3	2591	3	RGNEF	5	73165981	Nonsense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	4495501	73165981	107749279	31	8738											
MCC	4163	bcgsc.ca	37	chr5	112458382	112458382	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagggcaggcagactcaccCatgtcagcagtaaccatggt	11	12	2	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:112458382C>T	ENST00000302475.4	-	4	1019	c.456G>A	c.(454-456)atG>atA	p.M152I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Splice_Site_p.M342I|MCC_ENST00000515367.2_Splice_Site_p.M89I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	152					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGACTCACCCATGTCAGCAG	0.458																																					p.M342I		.											.	MCC-69	0			c.G1026A						.						130	106	114					5																	112458382		2202	4300	6502	SO:0001630	splice_region_variant	4163	exon6			CTCACCCATGTCA		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.457+1G>A	5.37:g.112458382C>T		Somatic	218	4		WXS	Illumina GAIIx	Phase_I	232	108	NM_001085377	0	0	0	0	0	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724175	0.48728	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.77750	-1.12;2.56;1.38	5.61	5.61	0.85477	.	0.090338	0.64402	D	0.000001	T	0.63022	0.2476	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.003	T	0.56733	-0.7930	10	0.26408	T	0.33	-27.1204	19.2399	0.93877	0.0:1.0:0.0:0.0	.	152;114;342;152	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	I	152;89;342	ENSP00000305617:M152I;ENSP00000421615:M89I;ENSP00000386227:M342I	ENSP00000305617:M152I	M	-	3	0	MCC	112486281	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.532000	0.60608	2.633000	0.89246	0.557000	0.71058	ATG	.		0.458	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	Missense_Mutation	T	112458382	C	T	112458382	5	4	37	1	0	0	0	0	0	0	1	0	9411	608	21	3	2089	3	MCC	5	112458382	Splice_Site	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	39292401	112458382	68456878	32	8739											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	37	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	19691302	132149684	48765576	33	8740											
STC2	8614	broad.mit.edu	37	chr5	172745086	172745086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccacctggggctggcGctcggggggcgccgtgggag	20	12	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr5:172745086G>T	ENST00000265087.4	-	4	1982	c.673C>A	c.(673-675)Cgc>Agc	p.R225S	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	225					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.R225C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGGGCTGGCGCTCGGGGGGC	0.657																																					p.R225S		.											.	STC2-93	1	Substitution - Missense(1)	prostate(1)	c.C673A						.						43	48	46					5																	172745086		2203	4300	6503	SO:0001583	missense	8614	exon4			GCTGGCGCTCGGG	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.673C>A	5.37:g.172745086G>T	ENSP00000265087:p.Arg225Ser	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	79	3	NM_003714	0	0	58	58	0		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063428	0.20067	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	3.37	0.38596	.	0.677681	0.13963	N	0.350692	T	0.31040	0.0784	N	0.19112	0.55	0.09310	N	1	B	0.23937	0.094	B	0.20384	0.029	T	0.30475	-0.9977	9	0.62326	D	0.03	-10.057	14.6485	0.68777	0.0:0.0:0.6668:0.3332	.	225	O76061	STC2_HUMAN	S	225	.	ENSP00000265087:R225S	R	-	1	0	STC2	172677692	0.263000	0.24083	0.227000	0.23927	0.152000	0.21847	3.301000	0.51842	1.226000	0.43582	0.650000	0.86243	CGC	.		0.657	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		T	172745086	G	T	172745086	3	4	37	1	0	0	0	0	1	0	0	0	15323	1087	38	2	239	2	STC2	5	172745086	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	40595402	172745086	8170174	34	8741											
TULP1	7287	bcgsc.ca	37	chr6	35477025	35477025	+	Missense_Mutation	SNP	C	C	G													gctttgcccttttgattgctCttctttatcaccgtagctgc					rs2064318	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr6:35477025C>G	ENST00000229771.6	-	8	862	c.783G>C	c.(781-783)aaG>aaC	p.K261N	TULP1_ENST00000322263.4_Missense_Mutation_p.K208N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	261			K -> N (in dbSNP:rs2064318). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17962469, ECO:0000269|PubMed:9096357, ECO:0000269|PubMed:9462751}.|K -> T (in RP14).		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						TTTGATTGCTCTTCTTTATCA	0.587													G|||	4199	0.838458	0.913	0.8833	5008	,	,		19103	0.8641		0.7863	False		,,,				2504	0.7331				p.K261N	GBM(55;1027 1091 11115 23439)	.											.	TULP1-92	0			c.G783C						.	G	ASN/LYS	3921,485	226.2+/-241.8	1746,429,28	378	350	359	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	783	3.7	1	6	dbSNP_94	359	7033,1567	295.0+/-302.2	2879,1275,146	yes	missense	TULP1	NM_003322.3	94	4625,1704,174	GG,GC,CC		18.2209,11.0077,15.7773	benign	261/543	35477025	10954,2052	2203	4300	6503	SO:0001583	missense	7287	exon8			ATTGCTCTTCTTT	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.783G>C	6.37:g.35477025C>G	ENSP00000229771:p.Lys261Asn	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	127	8	NM_003322	0	0	0	0	0	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	1865	0.8539377289377289	448	0.9105691056910569	324	0.8950276243093923	494	0.8636363636363636	599	0.7902374670184696	G	0.119	-1.127509	0.01770	0.889923	0.817791	ENSG00000112041	ENST00000229771;ENST00000322263	T;T	0.80123	-1.32;-1.34	4.6	3.73	0.42828	.	0.386813	0.27807	N	0.017773	T	0.16171	0.0389	N	0.00186	-1.895	0.42916	P	0.005730000000000013	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18398	-1.0338	9	0.02654	T	1	.	6.5805	0.22591	0.0977:0.1794:0.7229:0.0	rs2064318;rs57875686	208;261	O00294-2;O00294	.;TULP1_HUMAN	N	261;208	ENSP00000229771:K261N;ENSP00000319414:K208N	ENSP00000229771:K261N	K	-	3	2	TULP1	35585003	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	0.813000	0.27225	0.571000	0.29365	-0.357000	0.07601	AAG	C|0.349;G|0.651		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			G	35477025	C	G	35477025	3	3	37	1	0	0	0	0	1	0	0	0	16822	912	32	3	877	3	TULP1	6	35477025	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		35477025	135638042	35	8742	77	2									
TULP1	7287	bcgsc.ca	37	chr6	35477032	35477032	+	Missense_Mutation	SNP	A	A	G													ccttttgattgctcttctttAtcaccgtagctgcctcctcc					rs2064317	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr6:35477032A>G	ENST00000229771.6	-	8	855	c.776T>C	c.(775-777)aTa>aCa	p.I259T	TULP1_ENST00000322263.4_Missense_Mutation_p.I206T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	259			I -> T (in dbSNP:rs2064317). {ECO:0000269|PubMed:17962469}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I259T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCTTCTTTATCACCGTAGC	0.587													G|||	1973	0.39397	0.3449	0.3329	5008	,	,		19111	0.499		0.3648	False		,,,				2504	0.4254				p.I259T	GBM(55;1027 1091 11115 23439)	.											.	TULP1-92	1	Substitution - Missense(1)	stomach(1)	c.T776C						.	G	THR/ILE	1564,2842	669.1+/-402.1	254,1056,893	371	345	354	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	776	3.6	0.3	6	dbSNP_94	354	3190,5410	653.8+/-401.1	609,1972,1719	yes	missense	TULP1	NM_003322.3	89	863,3028,2612	GG,GA,AA		37.093,35.497,36.5524	benign	259/543	35477032	4754,8252	2203	4300	6503	SO:0001583	missense	7287	exon8			TTCTTTATCACCG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.776T>C	6.37:g.35477032A>G	ENSP00000229771:p.Ile259Thr	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	136	5	NM_003322	0	0	0	0	0	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	837	0.38324175824175827	172	0.34959349593495936	137	0.3784530386740331	256	0.44755244755244755	272	0.35883905013192613	G	0.004	-2.320881	0.00232	0.35497	0.37093	ENSG00000112041	ENST00000229771;ENST00000322263	T;T	0.79352	-1.25;-1.26	4.5	3.62	0.41486	.	0.891546	0.09851	N	0.747564	T	0.16128	0.0388	N	0.00413	-1.525	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.11966	-1.0566	9	0.02654	T	1	-11.6502	6.4263	0.21772	0.2277:0.0:0.7723:0.0	rs2064317;rs41539122;rs41539440;rs41539748;rs45630406;rs45632076;rs57520700;rs61726639;rs2064317	206;259	O00294-2;O00294	.;TULP1_HUMAN	T	259;206	ENSP00000229771:I259T;ENSP00000319414:I206T	ENSP00000229771:I259T	I	-	2	0	TULP1	35585010	0.662000	0.27439	0.260000	0.24451	0.137000	0.21094	0.696000	0.25541	0.513000	0.28278	-0.355000	0.07637	ATA	A|0.641;G|0.359		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			G	35477032	A	G	35477032	3	3	37	1	0	0	0	0	1	0	0	0	16822	449	16	4	884	4	TULP1	6	35477032	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	7	35477032	135638035	36	8743	77	2									
ENPP3	5169	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	132014711	132014711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactgcactatgccaagaaCgtcagaatcgacaaagttca	8	11	2	2	rs368371746		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr6:132014711C>T	ENST00000414305.1	+	16	1687	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	ENPP3_ENST00000358229.5_Silent_p.N453N|ENPP3_ENST00000357639.3_Silent_p.N453N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	453	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGCCAAGAACGTCAGAATCG	0.393																																					p.N453N		.											.	ENPP3-95	0			c.C1359T						.	C		1,4405	2.1+/-5.4	0,1,2202	211	185	194		1359	-1.1	0	6		194	0,8600		0,0,4300	no	coding-synonymous	ENPP3	NM_005021.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		453/876	132014711	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5169	exon15			CAAGAACGTCAGA	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1359C>T	6.37:g.132014711C>T		Somatic	309	2		WXS	Illumina GAIIx	Phase_I	273	108	NM_005021	0	0	10	19	9	Q5JTL3	Silent	SNP	ENST00000414305.1	37	CCDS5148.1																																																																																			.		0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			T	132014711	C	T	132014711	2	4	37	1	0	0	0	0	0	0	0	1	5147	535	19	1		1	ENPP3	6	132014711	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	96537679	132014711	39100356	37	8744											
GIGYF1	64599	broad.mit.edu	37	chr7	100283970	100283970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctcctcttcaccacAccctcctcgatcccctcgca	3	25	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr7:100283970A>C	ENST00000275732.5	-	8	1990	c.781T>G	c.(781-783)Tgt>Ggt	p.C261G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	261					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)					TCTTCACCACACCCTCCTCGA	0.637																																					p.C261G		.											.	GIGYF1-136	0			c.T781G						.						58	59	59					7																	100283970		2203	4299	6502	SO:0001583	missense	64599	exon8			CACCACACCCTCC	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.781T>G	7.37:g.100283970A>C	ENSP00000275732:p.Cys261Gly	Somatic	62	7		WXS	Illumina GAIIx	Phase_I	81	14	NM_022574	0	0	0	0	0	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	4.987	0.183350	0.09495	.	.	ENSG00000146830	ENST00000275732	D	0.81579	-1.51	4.94	3.78	0.43462	.	0.100331	0.45606	D	0.000357	T	0.49795	0.1578	N	0.01048	-1.04	0.34173	D	0.67003	B	0.02656	0.0	B	0.01281	0.0	T	0.55685	-0.8102	10	0.22706	T	0.39	-11.6996	8.0977	0.30837	0.7764:0.2236:0.0:0.0	.	261	O75420	PERQ1_HUMAN	G	261	ENSP00000275732:C261G	ENSP00000275732:C261G	C	-	1	0	GIGYF1	100121906	0.999000	0.42202	1.000000	0.80357	0.318000	0.28184	2.337000	0.43947	2.076000	0.62316	0.460000	0.39030	TGT	.		0.637	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		C	100283970	A	C	100283970	3	2	37	1	0	0	0	0	1	0	0	0	6403	159	6	5	2394	5	GIGYF1	7	100283970	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10		100283970	58854693	38	8745											
CPA1	1357	broad.mit.edu	37	chr7	130021608	130021608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcgaggacgtgcagtcGctgctggacgaggagcagga	17	8	0	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S95S		.											.	CPA1-91	0			c.G285A						.						71	60	64					7																	130021608		2203	4300	6503	SO:0001819	synonymous_variant	1357	exon3			GCAGTCGCTGCTG		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.285G>A	7.37:g.130021608G>A		Somatic	179	1	1576	WXS	Illumina GAIIx	Phase_I	176	4	NM_001868	0	0	0	0	0	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																			.		0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		A	130021608	G	A	130021608	2	1	37	1	0	0	0	0	0	0	0	1	3796	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	29737638	130021608	29117055	39	8746											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10468964	10468964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctcccacctggcccccGggcagtgctttggtggctgc	15	16	0	0	rs148936402	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr8:10468964G>A	ENST00000382483.3	-	4	2867	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	882					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGCCCCCGGGCAGTGCTT	0.721													G|||	4	0.000798722	0	0.0014	5008	,	,		13003	0		0.003	False		,,,				2504	0				p.R882W		.											.	RP1L1-139	0			c.C2644T						.	G	TRP/ARG	4,3252		0,4,1624	3	5	4		2644	-10.2	0	8	dbSNP_134	4	25,7483		1,23,3730	yes	missense	RP1L1	NM_178857.5	101	1,27,5354	AA,AG,GG		0.333,0.1229,0.2694	probably-damaging	882/2401	10468964	29,10735	1628	3754	5382	SO:0001583	missense	94137	exon4			GCCCCCGGGCAGT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2644C>T	8.37:g.10468964G>A	ENSP00000371923:p.Arg882Trp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	28	16	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.55	3.417786	0.62622	0.001229	0.00333	ENSG00000183638	ENST00000382483	T	0.04275	3.66	5.11	-10.2	0.00374	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47471	-0.9115	9	0.66056	D	0.02	0.0532	0.2196	0.00166	0.2056:0.2404:0.2206:0.3333	.	882	A6NKC6	.	W	882	ENSP00000371923:R882W	ENSP00000371923:R882W	R	-	1	2	RP1L1	10506374	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.088000	0.03379	-2.316000	0.00645	-0.379000	0.06801	CGG	G|0.999;A|0.001		0.721	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10468964	G	A	10468964	3	1	37	1	0	0	0	0	1	0	0	0	13578	1115	39	1	4562	1	RP1L1	8	10468964	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		10468964	135895058	40	8747											
NKX3-1	4824	hgsc.bcm.edu	37	chr8	23540249	23540249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccggctccgggtcgcGctgtctctggctgctcgtgc	15	15	1	0	rs2228013	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr8:23540249G>A	ENST00000380871.4	-	1	191	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	NKX3-1_ENST00000523261.1_Intron	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	52			R -> C (in dbSNP:rs2228013). {ECO:0000269|PubMed:9377551}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCGGGTCGCGCTGTCTCTGG	0.756													G|||	111	0.0221645	8e-04	0.0519	5008	,	,		11150	0.001		0.0467	False		,,,				2504	0.0266				p.R52C		.											.	NKX3-1-90	0			c.C154T						.	G	CYS/ARG	33,3943		0,33,1955	8	9	9		154	2.4	0	8	dbSNP_98	9	337,7623		5,327,3648	no	missense	NKX3-1	NM_006167.3	180	5,360,5603	AA,AG,GG		4.2337,0.83,3.0999	possibly-damaging	52/235	23540249	370,11566	1988	3980	5968	SO:0001583	missense	4824	exon1			GGTCGCGCTGTCT		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.154C>T	8.37:g.23540249G>A	ENSP00000370253:p.Arg52Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_006167	0	0	0	0	0	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	49	0.022435897435897436	1	0.0020325203252032522	16	0.04419889502762431	0	0.0	32	0.04221635883905013	G	13.18	2.161019	0.38119	0.0083	0.042337	ENSG00000167034	ENST00000380871	D	0.91011	-2.77	4.28	2.43	0.29744	.	7739.210000	0.00166	N	0.000000	T	0.50820	0.1638	N	0.08118	0	0.18873	N	0.999983	D	0.53151	0.958	B	0.35182	0.197	T	0.70066	-0.4974	10	0.56958	D	0.05	.	4.8592	0.13575	0.1031:0.0:0.5205:0.3765	rs2228013	52	Q99801	NKX31_HUMAN	C	52	ENSP00000370253:R52C	ENSP00000370253:R52C	R	-	1	0	NKX3-1	23596194	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.180000	0.16860	0.410000	0.25675	0.484000	0.47621	CGC	G|0.977;A|0.023		0.756	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			A	23540249	G	A	23540249	3	1	37	1	0	0	0	0	1	0	0	0	10494	1087	38	1	558	1	NKX3-1	8	23540249	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	13071285	23540249	122823773	41	8748											
C8orf22	492307	broad.mit.edu;bcgsc.ca	37	chr8	49985442	49985442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagaaatcagtattatcGaagtaagttgcatcatcata	7	7	3	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr8:49985442G>A	ENST00000303202.8	+	2	226	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	C8orf22_ENST00000517663.1_Missense_Mutation_p.R18Q|C8orf22_ENST00000399653.4_Missense_Mutation_p.R18Q|C8orf22_ENST00000522267.1_Missense_Mutation_p.R18Q	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGTATTATCGAAGTAAGTTG	0.413																																					p.R18Q		.											.	.	0			c.G53A						.						179	167	171					8																	49985442		1896	4124	6020	SO:0001583	missense	492307	exon2			ATTATCGAAGTAA	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.53G>A	8.37:g.49985442G>A	ENSP00000304926:p.Arg18Gln	Somatic	265	1		WXS	Illumina GAIIx	Phase_I	213	9	NM_001256598	0	0	0	0	0	G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355047	0.24512	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.36	2.52	0.30459	.	0.000000	0.35207	U	0.003367	T	0.18130	0.0435	.	.	.	0.20307	N	0.999911	P	0.34462	0.454	B	0.23852	0.049	T	0.12477	-1.0546	7	.	.	.	-15.5651	5.9936	0.19480	0.1076:0.1932:0.6992:0.0	.	18	Q8WWR9-2	.	Q	18	.	.	R	+	2	0	C8orf22	50147995	1.000000	0.71417	0.991000	0.47740	0.112000	0.19704	1.780000	0.38634	0.299000	0.22661	-0.302000	0.09304	CGA	.		0.413	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		A	49985442	G	A	49985442	3	1	37	1	0	0	0	0	1	0	0	0	2426	1058	37	1	55	1	C8orf22	8	49985442	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	26445193	49985442	96378580	42	8749											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000357649.2_Silent_p.L1188L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_201380	0	0	0	11	11	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	37	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	95016342	145001784	1362238	43	8750											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_213605	0	0	0	4	4		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	37	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	1031563	146033347	330675	44	8751											
RUSC2	9853	broad.mit.edu	37	chr9	35546626	35546626	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggggcaggtggaggTggtgggagcacaagacctaa	20	5	0	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr9:35546626T>G	ENST00000455600.1	+	2	677	c.108T>G	c.(106-108)ggT>ggG	p.G36G	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	36						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)			CAGGTGGAGGTGGTGGGAGCA	0.602																																					p.G36G		.											.	RUSC2-91	0			c.T108G						.						74	70	72					9																	35546626		2203	4300	6503	SO:0001819	synonymous_variant	9853	exon2			TGGAGGTGGTGGG	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.108T>G	9.37:g.35546626T>G		Somatic	203	24		WXS	Illumina GAIIx	Phase_I	191	19	NM_014806	0	0	0	0	0	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																			.		0.602	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		G	35546626	T	G	35546626	2	3	37	1	0	0	0	0	0	0	0	1	13796	1683	59	5		5	RUSC2	9	35546626	Silent	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10		35546626	105666805	45	8752											
IKBKAP	8518	broad.mit.edu;bcgsc.ca	37	chr9	111674681	111674681	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatggggtcacagggtccCacatcagagacacaatcttg	12	10	3	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr9:111674681C>T	ENST00000374647.5	-	11	1359	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.W2*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	351					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						CACAGGGTCCCACATCAGAGA	0.517																																					p.W351X		.											.	IKBKAP-318	0			c.G1052A						.						123	111	115					9																	111674681		2203	4300	6503	SO:0001587	stop_gained	8518	exon11			GGGTCCCACATCA	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.1052G>A	9.37:g.111674681C>T	ENSP00000363779:p.Trp351*	Somatic	260	0		WXS	Illumina GAIIx	Phase_I	293	13	NM_003640	0	0	8	8	0	Q5JSV2|Q9H327|Q9UG87	Nonsense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678943	0.98428	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5186	17.5517	0.87878	0.0:1.0:0.0:0.0	.	.	.	.	X	351;2	.	ENSP00000363779:W351X	W	-	2	0	IKBKAP	110714502	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.419000	0.80179	2.822000	0.97130	0.557000	0.71058	TGG	.		0.517	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			T	111674681	C	T	111674681	4	4	37	1	0	0	0	0	0	1	0	0	7637	595	21	3	3054	3	IKBKAP	9	111674681	Nonsense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	76128055	111674681	29538750	46	8753											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113196694	113196694	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcccgaccagctggaagcCtggatcacagaacagattga	11	11	1	3			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr9:113196694C>G	ENST00000401783.2	-	30	5317	c.4981G>C	c.(4981-4983)Ggc>Cgc	p.G1661R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1638R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1661	Sushi 5. {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						AGCTGGAAGCCTGGATCACAG	0.517																																					p.G1661R		.											.	SVEP1-75	0			c.G4981C						.						62	61	62					9																	113196694		1937	4144	6081	SO:0001583	missense	79987	exon30			GGAAGCCTGGATC	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.4981G>C	9.37:g.113196694C>G	ENSP00000384917:p.Gly1661Arg	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	161	59	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157137	0.94686	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.76709	-1.04;-1.04	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.105591	0.64402	D	0.000004	D	0.91429	0.7295	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92839	0.6287	10	0.87932	D	0	.	19.8199	0.96589	0.0:1.0:0.0:0.0	.	1661	Q4LDE5	SVEP1_HUMAN	R	1661;1638	ENSP00000384917:G1661R;ENSP00000363593:G1638R	ENSP00000363593:G1638R	G	-	1	0	SVEP1	112236515	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.763000	0.68818	2.677000	0.91161	0.655000	0.94253	GGC	.		0.517	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113196694	C	G	113196694	3	3	37	1	0	0	0	0	1	0	0	0	15467	681	24	3	5810	3	SVEP1	9	113196694	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	1522013	113196694	28016737	47	8754											
MUSK	4593	bcgsc.ca	37	chr9	113538122	113538122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaagaatggctggtaatGgaagagaagacccacagagg	14	6	0	4	rs2274419	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr9:113538122G>A	ENST00000374448.4	+	10	1373	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	MUSK_ENST00000416899.2_Missense_Mutation_p.M413I|MUSK_ENST00000374438.1_Missense_Mutation_p.G5R|MUSK_ENST00000189978.5_Missense_Mutation_p.M413I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	413	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		M -> I (in dbSNP:rs2274419). {ECO:0000269|PubMed:17344846}.		cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGCTGGTAATGGAAGAGAAGA	0.468													G|||	503	0.100439	0.0045	0.0389	5008	,	,		17692	0.1895		0.1252	False		,,,				2504	0.1564				p.M413I		.											.	MUSK-1379	0			c.G1239A						.	G	ILE/MET,ILE/MET,ILE/MET	83,3709		0,83,1813	84	85	85		1005,975,1239	1.1	0.9	9	dbSNP_100	85	1094,7152		73,948,3102	yes	missense,missense,missense	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	10,10,10	73,1031,4915	AA,AG,GG		13.267,2.1888,9.7774	benign,benign,benign	335/784,325/774,413/870	113538122	1177,10861	1896	4123	6019	SO:0001583	missense	4593	exon9			GGTAATGGAAGAG	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.1239G>A	9.37:g.113538122G>A	ENSP00000363571:p.Met413Ile	Somatic	237	0		WXS	Illumina GAIIx	Phase_I	248	8	NM_005592	0	0	0	0	0	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	224|224	0.10256410256410256|0.10256410256410256	3|3	0.006097560975609756|0.006097560975609756	14|14	0.03867403314917127|0.03867403314917127	119|119	0.20804195804195805|0.20804195804195805	88|88	0.11609498680738786|0.11609498680738786	G|G	5.688|5.688	0.311434|0.311434	0.10789|0.10789	0.021888|0.021888	0.13267|0.13267	ENSG00000030304|ENSG00000030304	ENST00000374441;ENST00000374438|ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D|T	0.84442|0.71817	-1.85|-0.6	5.43|5.43	1.08|1.08	0.20341|0.20341	.|Frizzled domain (2);	.|0.533746	.|0.23008	.|N	.|0.052987	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	P|P	1.0|1.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.04229|0.04229	-1.0967|-1.0967	6|9	0.87932|0.10377	D|T	0|0.69	.|.	7.3856|7.3856	0.26880|0.26880	0.2043:0.139:0.6568:0.0|0.2043:0.139:0.6568:0.0	rs2274419;rs52816297;rs56547888;rs59906813;rs2274419|rs2274419;rs52816297;rs56547888;rs59906813;rs2274419	.|413	.|O15146	.|MUSK_HUMAN	R|I	5|419;413;413;335;335;419	ENSP00000363561:G5R|ENSP00000363571:M413I	ENSP00000363561:G5R|ENSP00000189978:M419I	G|M	+|+	1|3	0|0	MUSK|MUSK	112577943|112577943	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.605000|0.605000	0.37080|0.37080	0.809000|0.809000	0.27168|0.27168	0.259000|0.259000	0.21709|0.21709	0.655000|0.655000	0.94253|0.94253	GGA|ATG	G|0.885;A|0.115		0.468	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113538122	G	A	113538122	3	1	37	1	0	0	0	0	1	0	0	0	10027	1348	47	3	1309	3	MUSK	9	113538122	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	341428	113538122	27675309	48	8755											
SLC2A6	11182	broad.mit.edu	37	chr9	136340732	136340732	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgccacggcagcaggagGcctgggggcgaggggtgggt	22	10	0	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr9:136340732G>T	ENST00000371899.4	-	5	641	c.564C>A	c.(562-564)ggC>ggA	p.G188G	SLC2A6_ENST00000371897.4_Splice_Site_p.G188G|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	188					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCAGCAGGAGGCCTGGGGGCG	0.662																																					p.G188G		.											.	SLC2A6-90	0			c.C564A						.						6	7	7					9																	136340732		2122	4198	6320	SO:0001630	splice_region_variant	11182	exon5			CAGGAGGCCTGGG	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.563-1C>A	9.37:g.136340732G>T		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	87	8	NM_017585	0	0	0	0	0	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	CCDS6975.1																																																																																			.		0.662	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585	Silent	T	136340732	G	T	136340732	5	4	37	1	0	0	0	0	0	0	1	0	14594	1217	42	3	983	3	SLC2A6	9	136340732	Splice_Site	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	22802610	136340732	4872699	49	8756											
ABI1	10006	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	27040664	27040664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagagtcatcaaacatgGgaatgtcatctggtggaggt	15	5	4	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr10:27040664G>A	ENST00000376142.2	-	11	1285	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	ABI1_ENST00000346832.5_Missense_Mutation_p.P393L|ABI1_ENST00000376166.1_Missense_Mutation_p.P343L|ABI1_ENST00000359188.4_Missense_Mutation_p.P377L|ABI1_ENST00000355394.4_Missense_Mutation_p.P406L|ABI1_ENST00000376170.4_Missense_Mutation_p.P348L|ABI1_ENST00000376134.3_Missense_Mutation_p.P379L|ABI1_ENST00000376160.1_Missense_Mutation_p.P372L|ABI1_ENST00000376139.2_Missense_Mutation_p.P373L|ABI1_ENST00000490841.2_Missense_Mutation_p.P226L|ABI1_ENST00000536334.1_Missense_Mutation_p.P291L|ABI1_ENST00000376137.4_Missense_Mutation_p.P320L|ABI1_ENST00000376140.3_Missense_Mutation_p.P378L|ABI1_ENST00000376138.3_Missense_Mutation_p.P349L	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	405	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCAAACATGGGAATGTCATC	0.443																																					p.P405L		.											.	ABI1-1082	0			c.C1214T						.						139	150	146					10																	27040664		2203	4300	6503	SO:0001583	missense	10006	exon11			AACATGGGAATGT	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1214C>T	10.37:g.27040664G>A	ENSP00000365312:p.Pro405Leu	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	105	46	NM_005470	0	0	11	12	1	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224804	0.58668	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	2.36;2.36;2.36;0.98;0.95;0.95;0.96;1.06;2.36;0.86;1.09;2.36;0.99;0.97	5.31	5.31	0.75309	Src homology-3 domain (1);	0.727226	0.14738	N	0.301356	T	0.52289	0.1725	M	0.77313	2.365	0.41197	D	0.98634	B;B;B;B;B;B;B;B;B;B;B;B;B	0.34264	0.043;0.043;0.043;0.073;0.446;0.194;0.172;0.053;0.017;0.376;0.01;0.053;0.151	B;B;B;B;B;B;B;B;B;B;B;B;B	0.28784	0.006;0.006;0.011;0.015;0.094;0.04;0.023;0.059;0.027;0.073;0.015;0.059;0.088	T	0.57177	-0.7856	10	0.44086	T	0.13	-4.6766	19.3231	0.94250	0.0:0.0:1.0:0.0	.	290;319;226;285;215;343;373;377;393;349;373;378;405	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	L	349;348;343;372;405;377;373;406;393;379;320;291;226;378	ENSP00000365308:P349L;ENSP00000365340:P348L;ENSP00000365336:P343L;ENSP00000365330:P372L;ENSP00000365312:P405L;ENSP00000352114:P377L;ENSP00000365309:P373L;ENSP00000347555:P406L;ENSP00000279599:P393L;ENSP00000365304:P379L;ENSP00000365307:P320L;ENSP00000439646:P291L;ENSP00000440101:P226L;ENSP00000365310:P378L	ENSP00000279599:P393L	P	-	2	0	ABI1	27080670	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.621000	0.74228	2.640000	0.89533	0.655000	0.94253	CCC	.		0.443	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		A	27040664	G	A	27040664	3	1	37	1	0	0	0	0	1	0	0	0	88	1232	43	3	320	3	ABI1	10	27040664	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		27040664	108494083	50	8757											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407622	75407622	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgggcctggggcaggCgcctctgggcgcgcagaggg	20	14	1	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr10:75407622C>A	ENST00000394810.2	-	4	1937	c.1788G>T	c.(1786-1788)gcG>gcT	p.A596A	SYNPO2L_ENST00000372873.4_Silent_p.A372A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	596	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGGGGCAGGCGCCTCTGGGC	0.711																																					p.A596A		.											.	SYNPO2L-91	0			c.G1788T						.						15	18	17					10																	75407622		2059	4187	6246	SO:0001819	synonymous_variant	79933	exon4			GGCAGGCGCCTCT	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1788G>T	10.37:g.75407622C>A		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	55	5	NM_001114133	0	0	0	0	0	A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	CCDS44438.1																																																																																			.		0.711	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		A	75407622	C	A	75407622	2	1	37	1	0	0	0	0	0	0	0	1	15505	755	27	2		2	SYNPO2L	10	75407622	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	48366958	75407622	60127125	51	8758											
ARMS2	387715	bcgsc.ca	37	chr10	124214448	124214448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacactccatgatcccagctGctaaaatccacactgagctc	5	16	0	2	rs10490924	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr10:124214448G>T	ENST00000528446.1	+	1	280	c.205G>T	c.(205-207)Gct>Tct	p.A69S		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	69			A -> S (in dbSNP:rs10490924). {ECO:0000269|PubMed:16174643, ECO:0000269|PubMed:16642439, ECO:0000269|PubMed:16936732, ECO:0000269|PubMed:17000705, ECO:0000269|PubMed:17053108, ECO:0000269|PubMed:17210852, ECO:0000269|PubMed:17675241, ECO:0000269|PubMed:17884985, ECO:0000269|PubMed:18423869, ECO:0000269|PubMed:18436811, ECO:0000269|PubMed:18452766}.		retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATCCCAGCTGCTAAAATCCA	0.537													G|||	1435	0.286542	0.2458	0.2478	5008	,	,		19203	0.4038		0.1948	False		,,,				2504	0.3425				p.A69S		.											.	ARMS2-1	0			c.G205T	GRCh37	CM066533	ARMS2	M	rs10490924	.	G	SER/ALA	824,3200		89,646,1277	95	94	94	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	205	1	0	10	dbSNP_119	94	1724,6652		182,1360,2646	yes	missense	ARMS2	NM_001099667.1	99	271,2006,3923	TT,TG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	20.5826,20.4771,20.5484	benign	69/108	124214448	2548,9852	2012	4188	6200	SO:0001583	missense	387715	exon1			CCAGCTGCTAAAA	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.205G>T	10.37:g.124214448G>T	ENSP00000436682:p.Ala69Ser	Somatic	137	3		WXS	Illumina GAIIx	Phase_I	157	6	NM_001099667	0	0	0	0	0	B2Y7I5	Missense_Mutation	SNP	ENST00000528446.1	37	CCDS53585.1	597	0.2733516483516483	126	0.25609756097560976	90	0.24861878453038674	230	0.4020979020979021	151	0.19920844327176782	G	8.897	0.955517	0.18507	0.204771	0.205826	ENSG00000254636	ENST00000528446	T	0.38401	1.14	1.97	0.998	0.19857	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.64830	0.994	D	0.68353	0.957	T	0.41822	-0.9487	8	0.87932	D	0	.	6.1676	0.20398	0.0:0.3219:0.6781:0.0	rs10490924;rs10490924	69	P0C7Q2	ARMS2_HUMAN	S	69	ENSP00000436682:A69S	ENSP00000436682:A69S	A	+	1	0	ARMS2	124204438	0.006000	0.16342	0.005000	0.12908	0.078000	0.17371	0.208000	0.17415	0.370000	0.24538	0.491000	0.48974	GCT	G|0.712;T|0.288		0.537	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			T	124214448	G	T	124214448	3	4	37	1	0	0	0	0	1	0	0	0	965	1319	46	3	207	3	ARMS2	10	124214448	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	48806826	124214448	11320299	52	8759											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001323	0	0	0	1	1	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	37	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		65779590	69226926	53	8760											
TMEM151A	256472	hgsc.bcm.edu	37	chr11	66062454	66062454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcttcttcagcgccaAcgagggcctggacgactatc	13	14	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr11:66062454A>G	ENST00000327259.4	+	2	881	c.737A>G	c.(736-738)aAc>aGc	p.N246S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	246						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						TTCAGCGCCAACGAGGGCCTG	0.692																																					p.N246S		.											.	TMEM151A-90	0			c.A737G						.						13	11	12					11																	66062454		2131	4136	6267	SO:0001583	missense	256472	exon2			GCGCCAACGAGGG	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.737A>G	11.37:g.66062454A>G	ENSP00000326244:p.Asn246Ser	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	49	23	NM_153266	0	0	4	8	4	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165812	0.78339	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.54271	0.1848	M	0.67397	2.05	0.48511	D	0.999669	P	0.37864	0.61	B	0.35240	0.198	T	0.61540	-0.7042	9	0.59425	D	0.04	.	12.3981	0.55397	1.0:0.0:0.0:0.0	.	246	Q8N4L1	T151A_HUMAN	S	246	.	ENSP00000326244:N246S	N	+	2	0	TMEM151A	65819030	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.014000	0.93635	1.759000	0.51996	0.533000	0.62120	AAC	.		0.692	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		G	66062454	A	G	66062454	3	3	37	1	0	0	0	0	1	0	0	0	16117	43	2	4	743	4	TMEM151A	11	66062454	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	282864	66062454	68944062	54	8761											
SORL1	6653	ucsc.edu;bcgsc.ca	37	chr11	121429444	121429444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtggatttactggacGgatgcctacctggagtgcat	13	9	0	0	rs370296806		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr11:121429444G>A	ENST00000260197.7	+	20	2937	c.2808G>A	c.(2806-2808)acG>acA	p.T936T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	936					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTACTGGACGGATGCCTACC	0.542																																					p.T936T		.											.	SORL1-228	0			c.G2808A						.	A		0,4406		0,0,2203	222	181	195		2808	-11.1	0	11		195	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SORL1	NM_003105.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		936/2215	121429444	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6653	exon20			CTGGACGGATGCC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2808G>A	11.37:g.121429444G>A		Somatic	360	2		WXS	Illumina GAIIx	Phase_I	294	131	NM_003105	0	0	0	0	0	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																			.		0.542	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121429444	G	A	121429444	2	1	37	1	0	0	0	0	0	0	0	1	14979	1103	39	1		1	SORL1	11	121429444	Silent	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	55366990	121429444	13577072	55	8762											
ETV6	2120	bcgsc.ca	37	chr12	11992168	11992168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaattgacagcaacacGtttgaaatgaatggcaaagc	10	8	0	3	rs11611479	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:11992168G>A	ENST00000396373.4	+	3	532	c.258G>A	c.(256-258)acG>acA	p.T86T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	86	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAGCAACACGTTTGAAATGA	0.488			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								G|||	1066	0.212859	0.23	0.111	5008	,	,		21183	0.2192		0.1093	False		,,,				2504	0.362				p.T86T		.		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	.	ETV6-1674	0			c.G258A						.	G		815,3591	326.9+/-299.8	75,665,1463	114	106	109		258	-6.2	0.6	12	dbSNP_120	109	887,7713	199.3+/-243.4	53,781,3466	no	coding-synonymous	ETV6	NM_001987.4		128,1446,4929	AA,AG,GG		10.314,18.4975,13.0863		86/453	11992168	1702,11304	2203	4300	6503	SO:0001819	synonymous_variant	2120	exon3			CAACACGTTTGAA	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.258G>A	12.37:g.11992168G>A		Somatic	264	1		WXS	Illumina GAIIx	Phase_I	265	8	NM_001987	0	0	4	4	0	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	CCDS8643.1																																																																																			G|0.850;A|0.150		0.488	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		A	11992168	G	A	11992168	2	1	37	1	0	0	0	0	0	0	0	1	5299	1132	40	1		1	ETV6	12	11992168	Silent	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		11992168	121859727	56	8763											
KIAA0528	9847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	22635541	22635541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatctgaattcttagtcCaaacaaagcattcattcctt	5	9	3	2			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:22635541C>T	ENST00000333957.4	-	14	1942	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	C2CD5_ENST00000542676.1_Missense_Mutation_p.G563R|C2CD5_ENST00000544930.1_Missense_Mutation_p.G378R|C2CD5_ENST00000545552.1_Missense_Mutation_p.G576R|C2CD5_ENST00000396028.2_Missense_Mutation_p.G554R|C2CD5_ENST00000536386.1_Missense_Mutation_p.G565R|C2CD5_ENST00000446597.1_Missense_Mutation_p.G563R	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	563					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.G563*(1)|p.G378*(1)									ATTCTTAGTCCAAACAAAGCA	0.323																																					p.G563R		.											.	.	2	Substitution - Nonsense(2)	lung(2)	c.G1687A						.						179	166	170					12																	22635541		2203	4300	6503	SO:0001583	missense	9847	exon14			TTAGTCCAAACAA	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1687G>A	12.37:g.22635541C>T	ENSP00000334229:p.Gly563Arg	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	146	52	NM_014802	0	0	1	2	1	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978228	0.92982	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.76170	2.325	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	0.996;0.997;0.992;0.992;1.0;0.982	T	0.24190	-1.0167	10	0.87932	D	0	-22.6347	19.6014	0.95563	0.0:1.0:0.0:0.0	.	565;563;378;565;554;563	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	R	563;563;565;554;563;576;378	ENSP00000334229:G563R;ENSP00000388756:G563R;ENSP00000439392:G565R;ENSP00000379345:G554R;ENSP00000441951:G563R;ENSP00000443204:G576R;ENSP00000445288:G378R	ENSP00000334229:G563R	G	-	1	0	KIAA0528	22526808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.109000	0.77062	2.622000	0.88805	0.650000	0.86243	GGA	.		0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		T	22635541	C	T	22635541	3	4	37	1	0	0	0	0	1	0	0	0	8209	603	21	3	1363	3	KIAA0528	12	22635541	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	10643373	22635541	111216354	57	8764											
C12orf41	54934	broad.mit.edu	37	chr12	49054319	49054319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatcctcagagaggcTtacaggaacaggtttgttgc	14	8	1	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:49054319T>C	ENST00000420613.2	-	8	1104	c.1057A>G	c.(1057-1059)Agc>Ggc	p.S353G	KANSL2_ENST00000550347.1_Missense_Mutation_p.S536G|KANSL2_ENST00000553086.1_Missense_Mutation_p.S353G|KANSL2_ENST00000548701.1_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	353					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TCAGAGAGGCTTACAGGAACA	0.507																																					p.S353G		.											.	.	0			c.A1057G						.						58	62	61					12																	49054319		1880	4127	6007	SO:0001583	missense	54934	exon8			AGAGGCTTACAGG	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1057A>G	12.37:g.49054319T>C	ENSP00000415436:p.Ser353Gly	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	169	5	NM_017822	0	0	40	40	0	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314443	0.40996	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.38	5.38	0.77491	.	0.091257	0.85682	D	0.000000	T	0.31295	0.0792	N	0.21282	0.65	0.80722	D	1	B;B;B;B	0.20368	0.008;0.009;0.044;0.002	B;B;B;B	0.17722	0.009;0.008;0.019;0.003	T	0.06899	-1.0801	10	0.40728	T	0.16	-3.502	14.3762	0.66879	0.0:0.0:0.0:1.0	.	536;353;158;353	F8VX10;Q9H9L4;Q9H9L4-2;F8VXI8	.;CL041_HUMAN;.;.	G	536;353;101;353	ENSP00000449747:S536G;ENSP00000415436:S353G;ENSP00000447608:S101G;ENSP00000448833:S353G	ENSP00000415436:S353G	S	-	1	0	C12orf41	47340586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.128000	0.64733	2.041000	0.60428	0.377000	0.23210	AGC	.		0.507	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		C	49054319	T	C	49054319	3	2	37	1	0	0	0	0	1	0	0	0	1692	1609	56	4	433	4	C12orf41	12	49054319	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	26418778	49054319	84797576	58	8765											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	6	NM_152435	0	0	1	1	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	37	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	47282906	96337225	37514670	59	8766											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	37	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	20850682	117187907	16663988	60	8767											
KSR2	283455	bcgsc.ca	37	chr12	117993064	117993064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggttgttgatgtcacaCggaacggactctgtccggac	14	9	2	2	rs7955803	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:117993064C>T	ENST00000339824.5	-	9	2155	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.P447P|KSR2_ENST00000302438.5_Silent_p.P173P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	476					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGATGTCACACGGAACGGACT	0.488													C|||	1264	0.252396	0.2799	0.2003	5008	,	,		20620	0.1587		0.2684	False		,,,				2504	0.3323				p.P447P		.											.	KSR2-1449	0			c.G1341A						.	C		1045,2909		143,759,1075	130	135	134		1341	-10.2	0.3	12	dbSNP_116	134	2125,6185		286,1553,2316	no	coding-synonymous	KSR2	NM_173598.4		429,2312,3391	TT,TC,CC		25.5716,26.4289,25.848		447/922	117993064	3170,9094	1977	4155	6132	SO:0001819	synonymous_variant	283455	exon9			GTCACACGGAACG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1428G>A	12.37:g.117993064C>T		Somatic	266	3		WXS	Illumina GAIIx	Phase_I	278	10	NM_173598	0	0	0	0	0	A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37																																																																																				C|0.758;T|0.242		0.488	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	117993064	C	T	117993064	2	4	37	1	0	0	0	0	0	0	0	1	8610	523	19	1		1	KSR2	12	117993064	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	805157	117993064	15858831	61	8768											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000535703.1_Silent_p.P565P|RIMBP2_ENST00000536002.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	34	32	NM_015347	0	0	0	3	3	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	37	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	12928407	130921471	2930424	62	8769											
EFHA1	221154	hgsc.bcm.edu	37	chr13	22178258	22178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgccccaggccgccacCcgcgcgcagctacccgcagc	10	22	0	0	rs9509812	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3	3	3		30	-1.6	0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_152726	0	0	0	11	11	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		T	22178258	C	T	22178258	2	4	37	1	0	0	0	0	0	0	0	1	4957	610	22	3		3	EFHA1	13	22178258	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		22178258	92991620	63	8770											
LRRC16B	90668	broad.mit.edu	37	chr14	24527267	24527267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagctgcccctggaggCcctcaggtcgggtgggtgca	15	13	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr14:24527267C>A	ENST00000342740.5	+	16	1470	c.1316C>A	c.(1315-1317)gCc>gAc	p.A439D	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	439						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)		CCCCTGGAGGCCCTCAGGTCG	0.662											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A439D		.											.	LRRC16B-139	0			c.C1316A						.						46	50	49					14																	24527267		2203	4300	6503	SO:0001583	missense	90668	exon16			TGGAGGCCCTCAG	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.1316C>A	14.37:g.24527267C>A	ENSP00000340467:p.Ala439Asp	Somatic	98	1	772	WXS	Illumina GAIIx	Phase_I	129	5	NM_138360	0	0	0	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001283	0.54254	.	.	ENSG00000186648	ENST00000342740	T	0.52983	0.64	4.8	4.8	0.61643	.	0.689522	0.14267	N	0.330452	T	0.39860	0.1094	L	0.46157	1.445	0.80722	D	1	P	0.40476	0.718	B	0.33750	0.169	T	0.35051	-0.9804	10	0.41790	T	0.15	-17.5985	13.4393	0.61104	0.0:1.0:0.0:0.0	.	439	Q8ND23	LR16B_HUMAN	D	439	ENSP00000340467:A439D	ENSP00000340467:A439D	A	+	2	0	LRRC16B	23597107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.114000	0.50383	2.213000	0.71641	0.456000	0.33151	GCC	.		0.662	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		A	24527267	C	A	24527267	3	1	37	1	0	0	0	0	1	0	0	0	9007	739	26	3	1378	3	LRRC16B	14	24527267	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		24527267	82822273	64	8771											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001127258	0	0	0	2	2	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	37	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	75614422	100141689	7207851	65	8772											
WDR72	256764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	53998158	53998158	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacttggatacaggaacAtcagggatgtgccacaaagt	10	8	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr15:53998158A>T	ENST00000396328.1	-	10	1307	c.1068T>A	c.(1066-1068)gaT>gaA	p.D356E	WDR72_ENST00000557913.1_Missense_Mutation_p.D353E|WDR72_ENST00000360509.5_Missense_Mutation_p.D356E|WDR72_ENST00000559418.1_Missense_Mutation_p.D366E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	356										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATACAGGAACATCAGGGATGT	0.373																																					p.D356E		.											.	WDR72-92	0			c.T1068A						.						109	108	108					15																	53998158		2194	4293	6487	SO:0001583	missense	256764	exon10			AGGAACATCAGGG	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1068T>A	15.37:g.53998158A>T	ENSP00000379619:p.Asp356Glu	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	71	31	NM_182758	0	0	0	0	0	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120294	0.77323	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.71698	-0.59;-0.59	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.65975	2.015	0.42414	D	0.992611	D	0.76494	0.999	D	0.85130	0.997	T	0.80970	-0.1144	10	0.33141	T	0.24	.	15.2683	0.73681	1.0:0.0:0.0:0.0	.	356	Q3MJ13	WDR72_HUMAN	E	356	ENSP00000379619:D356E;ENSP00000353699:D356E	ENSP00000353699:D356E	D	-	3	2	WDR72	51785450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.458000	0.60095	2.202000	0.70862	0.533000	0.62120	GAT	.		0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53998158	A	T	53998158	3	4	37	1	0	0	0	0	1	0	0	0	17371	214	8	5	2284	5	WDR72	15	53998158	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10		53998158	48533234	66	8773											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	37	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	11371237	65369395	37161997	67	8774											
PARP6	56965	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	72543246	72543246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccgagcctccttggcaGgagggctgctcagcaggagg	17	11	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr15:72543246G>A	ENST00000569795.1	-	18	2045	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PARP6_ENST00000413097.2_Intron|PARP6_ENST00000287196.9_Missense_Mutation_p.P453L|PARP6_ENST00000260376.7_Missense_Mutation_p.P453L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	453	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTCCTTGGCAGGAGGGCTGCT	0.612																																					p.P453L		.											.	PARP6-522	0			c.C1358T						.						28	30	29					15																	72543246		1984	4157	6141	SO:0001583	missense	56965	exon17			TTGGCAGGAGGGC	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1358C>T	15.37:g.72543246G>A	ENSP00000456348:p.Pro453Leu	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	172	78	NM_020214	0	0	9	20	11	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832988	0.91036	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376	.	.	.	5.43	4.49	0.54785	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.055104	0.85682	D	0.000000	T	0.80188	0.4577	M	0.85542	2.76	0.80722	D	1	D;B;D	0.89917	1.0;0.001;1.0	D;B;D	0.97110	1.0;0.005;0.999	T	0.82782	-0.0287	9	0.87932	D	0	-16.0921	13.8714	0.63622	0.0747:0.0:0.9253:0.0	.	454;453;386	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	454;453;453	.	ENSP00000260376:P453L	P	-	2	0	PARP6	70330300	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.742000	0.85008	2.824000	0.97209	0.655000	0.94253	CCT	.		0.612	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		A	72543246	G	A	72543246	3	1	37	1	0	0	0	0	1	0	0	0	11503	1000	35	3	562	3	PARP6	15	72543246	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	7173851	72543246	29988146	68	8775											
UBL7	84993	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74740854	74740854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggcctgaagggcatGctgtagggcttggctgaaga	16	9	0	4			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr15:74740854G>A	ENST00000567435.1	-	10	1433	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	UBL7_ENST00000395081.2_Missense_Mutation_p.H324Y|UBL7_ENST00000361351.4_Missense_Mutation_p.H324Y|UBL7_ENST00000564488.1_Missense_Mutation_p.H324Y|UBL7_ENST00000565335.1_Missense_Mutation_p.H324Y			Q96S82	UBL7_HUMAN	ubiquitin-like 7	324										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TGAAGGGCATGCTGTAGGGCT	0.542																																					p.H324Y		.											.	UBL7-91	0			c.C970T						.						227	206	213					15																	74740854		2197	4296	6493	SO:0001583	missense	84993	exon10			GGGCATGCTGTAG	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.970C>T	15.37:g.74740854G>A	ENSP00000457703:p.His324Tyr	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	225	101	NM_201265	0	0	44	89	45	D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516381	0.64634	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.43688	0.94;0.94	4.99	4.99	0.66335	.	0.053002	0.85682	D	0.000000	T	0.26991	0.0661	N	0.14661	0.345	0.58432	D	0.99999	B;P	0.39282	0.0;0.666	B;B	0.35114	0.0;0.196	T	0.07102	-1.0790	10	0.27082	T	0.32	-27.9937	16.8509	0.85993	0.0:0.0:1.0:0.0	.	364;324	D3DW56;Q96S82	.;UBL7_HUMAN	Y	324	ENSP00000354883:H324Y;ENSP00000378518:H324Y	ENSP00000354883:H324Y	H	-	1	0	UBL7	72527907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.363000	0.97131	2.307000	0.77673	0.462000	0.41574	CAT	.		0.542	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		A	74740854	G	A	74740854	3	1	37	1	0	0	0	0	1	0	0	0	16939	1319	46	3	180	3	UBL7	15	74740854	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	2197608	74740854	27790538	69	8776											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	37	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		1823444	88531309	70	8777											
ALG1	56052	bcgsc.ca	37	chr16	5132636	5132636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaaggtggtggacatgttCgggtgctgtttgcctgtgtg	17	5	0	1	rs1047732	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr16:5132636C>T	ENST00000262374.5	+	11	1180	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	ALG1_ENST00000544428.1_Silent_p.F272F|ALG1_ENST00000588623.1_Silent_p.F272F	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	383					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TGGACATGTTCGGGTGCTGTT	0.592													C|||	2603	0.519768	0.3903	0.415	5008	,	,		20459	0.629		0.495	False		,,,				2504	0.682				p.F383F		.											.	ALG1-92	0			c.C1149T						.	C		1679,2475		348,983,746	87	66	73		1149	-3.4	1	16	dbSNP_86	73	3990,3934		1038,1914,1010	no	coding-synonymous	ALG1	NM_019109.4		1386,2897,1756	TT,TC,CC		49.6466,40.4189,46.9366		383/465	5132636	5669,6409	2077	3962	6039	SO:0001819	synonymous_variant	56052	exon11			CATGTTCGGGTGC	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1149C>T	16.37:g.5132636C>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	48	5	NM_019109	0	0	30	30	0	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	CCDS10528.1																																																																																			C|0.537;T|0.463		0.592	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		T	5132636	C	T	5132636	2	4	37	1	0	0	0	0	0	0	0	1	510	883	31	1		1	ALG1	16	5132636	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	3309192	5132636	85222117	71	8778											
NECAB2	54550	bcgsc.ca	37	chr16	84035446	84035446	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaggcacctgcagagccccCtgtgtaaggcgttccggcac	12	15	0	1	rs2271298	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr16:84035446C>G	ENST00000305202.4	+	12	1074	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	NECAB2_ENST00000565691.1_Missense_Mutation_p.L270V	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	353	ABM.		L -> V (in dbSNP:rs2271298).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GCAGAGCCCCCTGTGTAAGGC	0.632													G|||	1955	0.390375	0.7307	0.2839	5008	,	,		17594	0.4683		0.1093	False		,,,				2504	0.2147				p.L353V		.											.	NECAB2-70	0			c.C1057G						.	G	VAL/LEU	2891,1509	474.6+/-357.0	944,1003,253	59	50	53		1057	4.1	0.2	16	dbSNP_100	53	956,7644	772.5+/-407.7	54,848,3398	yes	missense	NECAB2	NM_019065.2	32	998,1851,3651	GG,GC,CC		11.1163,34.2955,29.5923	benign	353/387	84035446	3847,9153	2200	4300	6500	SO:0001583	missense	54550	exon12			AGCCCCCTGTGTA	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1057C>G	16.37:g.84035446C>G	ENSP00000307449:p.Leu353Val	Somatic	250	2		WXS	Illumina GAIIx	Phase_I	221	7	NM_019065	0	0	69	69	0	A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	749	0.34294871794871795	342	0.6951219512195121	82	0.2265193370165746	254	0.44405594405594406	71	0.09366754617414248	G	0	-2.609746	0.00121	0.657045	0.111163	ENSG00000103154	ENST00000305202	T	0.29142	1.58	5.09	4.14	0.48551	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.662303	0.14800	N	0.297668	T	0.00012	0.0000	N	0.00146	-1.995	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.10902	T	0.67	-12.3086	5.5934	0.17313	0.1763:0.1641:0.6597:0.0	rs2271298;rs2271298	353	Q7Z6G3	NECA2_HUMAN	V	353	ENSP00000307449:L353V	ENSP00000307449:L353V	L	+	1	2	NECAB2	82592947	0.036000	0.19791	0.205000	0.23548	0.012000	0.07955	0.591000	0.23969	0.565000	0.29255	-0.216000	0.12614	CTG	C|0.697;G|0.303		0.632	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		G	84035446	C	G	84035446	3	3	37	1	0	0	0	0	1	0	0	0	10344	680	24	3	1103	3	NECAB2	16	84035446	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	78902810	84035446	6319307	72	8779											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599659	88599659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccaggactggacagaaaGgccctggccgaggccaccaa	13	14	0	1	rs71395304	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr16:88599659G>T	ENST00000319555.3	+	10	1615	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	431					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGACAGAAAGGCCCTGGCCG	0.721													G|||	612	0.122204	0.0091	0.1398	5008	,	,		9175	0.3294		0.0915	False		,,,				2504	0.0808				p.K431N	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.G1293T						.	G	ASN/LYS	61,3871		0,61,1905	4	5	4		1293	-1.2	0.1	16	dbSNP_130	4	544,7434		10,524,3455	yes	missense	ZFPM1	NM_153813.2	94	10,585,5360	TT,TG,GG		6.8188,1.5514,5.0798	probably-damaging	431/1007	88599659	605,11305	1966	3989	5955	SO:0001583	missense	161882	exon10			CAGAAAGGCCCTG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1293G>T	16.37:g.88599659G>T	ENSP00000326630:p.Lys431Asn	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	20	NM_153813	0	0	20	35	15		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	308	0.14102564102564102	9	0.018292682926829267	49	0.13535911602209943	192	0.3356643356643357	58	0.07651715039577836	G	10.12	1.262467	0.23051	0.015514	0.068188	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.39	-1.17	0.09648	.	1.163550	0.06454	U	0.728227	T	0.00012	0.0000	L	0.60455	1.87	0.40357	P	0.02080599999999999	D	0.69078	0.997	P	0.57911	0.829	T	0.41161	-0.9524	9	0.42905	T	0.14	-7.9024	6.4423	0.21856	0.5249:0.0:0.4751:0.0	.	431	Q8IX07	FOG1_HUMAN	N	431	ENSP00000326630:K431N	ENSP00000326630:K431N	K	+	3	2	ZFPM1	87127160	0.522000	0.26266	0.089000	0.20774	0.599000	0.36880	0.335000	0.19806	-0.105000	0.12132	0.289000	0.19496	AAG	G|0.858;T|0.142		0.721	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			T	88599659	G	T	88599659	3	4	37	1	0	0	0	0	1	0	0	0	17705	991	35	3	1331	3	ZFPM1	16	88599659	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	4564213	88599659	1755094	73	8780											
KIAA0753	9851	broad.mit.edu	37	chr17	6493296	6493296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttttctctgatccttcCtctgttcccacactttcatc	2	16	4	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:6493296C>A	ENST00000361413.3	-	18	2947	c.2589G>T	c.(2587-2589)gaG>gaT	p.E863D	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.E564D|KIAA0753_ENST00000589033.1_Missense_Mutation_p.E319D|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E564D	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	863						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTGATCCTTCCTCTGTTCCCA	0.458																																					p.E863D		.											.	KIAA0753-90	0			c.G2589T						.						55	56	56					17																	6493296		1840	4081	5921	SO:0001583	missense	9851	exon18			TCCTTCCTCTGTT		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2589G>T	17.37:g.6493296C>A	ENSP00000355250:p.Glu863Asp	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	70	4	NM_014804	0	0	5	5	0	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098879	0.76870	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.44881	0.91;0.91	5.42	-0.227	0.13102	.	0.425256	0.27715	N	0.018154	T	0.20577	0.0495	N	0.17674	0.51	0.21020	N	0.999809	B	0.13594	0.008	B	0.14578	0.011	T	0.15150	-1.0447	10	0.19147	T	0.46	-8.7621	5.3767	0.16170	0.0:0.4777:0.2869:0.2354	.	863	Q2KHM9	K0753_HUMAN	D	863;564;319	ENSP00000355250:E863D;ENSP00000444634:E564D	ENSP00000355250:E863D	E	-	3	2	KIAA0753	6434020	0.889000	0.30405	0.482000	0.27366	0.989000	0.77384	-0.227000	0.09126	-0.132000	0.11557	-0.136000	0.14681	GAG	.		0.458	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		A	6493296	C	A	6493296	3	1	37	1	0	0	0	0	1	0	0	0	8218	680	24	3	322	3	KIAA0753	17	6493296	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		6493296	74701914	74	8781											
SLC2A4	6517	broad.mit.edu	37	chr17	7187306	7187306	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagggctgacatcaggGctggtgcccatgtacgtggg	16	12	1	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:7187306G>T	ENST00000317370.8	+	5	730	c.462G>T	c.(460-462)ggG>ggT	p.G154G	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.G144G|SLC2A4_ENST00000571308.1_Silent_p.G154G	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	154				Missing (in Ref. 2; AAA52569). {ECO:0000305}.	amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGACATCAGGGCTGGTGCCCA	0.617																																					p.G154G		.											.	SLC2A4-90	0			c.G462T						.						30	30	30					17																	7187306		2203	4299	6502	SO:0001819	synonymous_variant	6517	exon5			ATCAGGGCTGGTG	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.462G>T	17.37:g.7187306G>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_001042	0	0	60	60	0	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	CCDS11097.1																																																																																			.		0.617	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			T	7187306	G	T	7187306	2	4	37	1	0	0	0	0	0	0	0	1	14591	1190	42	3		3	SLC2A4	17	7187306	Silent	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	694010	7187306	74007904	75	8782											
NDEL1	81565	ucsc.edu	37	chr17	8354151	8354151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaagtaactagaaagTcggctcctagctctccaact	8	11	1	1			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:8354151T>C	ENST00000334527.7	+	6	777	c.580T>C	c.(580-582)Tcg>Ccg	p.S194P	NDEL1_ENST00000380025.4_Missense_Mutation_p.S194P|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S194P|NDEL1_ENST00000402554.3_Missense_Mutation_p.S194P	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|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						AACTAGAAAGTCGGCTCCTAG	0.468																																					p.S194P		.											.	NDEL1-90	0			c.T580C						.						75	65	68					17																	8354151		2203	4300	6503	SO:0001583	missense	81565	exon6			AGAAAGTCGGCTC	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.580T>C	17.37:g.8354151T>C	ENSP00000333982:p.Ser194Pro	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	113	2	NM_001025579	0	0	28	29	1	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140031	0.56936	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.98	4.98	0.66077	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.60455	1.87	0.80722	D	1	B;B	0.20671	0.047;0.004	B;B	0.28465	0.09;0.023	T	0.56673	-0.7940	9	0.25751	T	0.34	-2.6516	15.1274	0.72494	0.0:0.0:0.0:1.0	.	194;194	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	P	194;194;249;194	.	ENSP00000299734:S194P	S	+	1	0	NDEL1	8294876	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.338000	0.79269	2.216000	0.71823	0.533000	0.62120	TCG	.		0.468	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		C	8354151	T	C	8354151	3	2	37	1	0	0	0	0	1	0	0	0	10283	1667	58	4	598	4	NDEL1	17	8354151	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	1166845	8354151	72841059	76	8783											
RICH2	9912	broad.mit.edu	37	chr17	12852499	12852499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccaaactgaagaagCtgaaagcggccctggactgc	11	13	0	3			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:12852499C>A	ENST00000379672.5	+	11	1204	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L302M|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L302M	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	302	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTGAAGAAGCTGAAAGCGGC	0.592																																					p.L302M		.											.	ARHGAP44-90	0			c.C904A						.						30	32	32					17																	12852499		2046	4188	6234	SO:0001583	missense	9912	exon11			AAGAAGCTGAAAG		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.904C>A	17.37:g.12852499C>A	ENSP00000368994:p.Leu302Met	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	51	4	NM_014859	0	0	0	0	0	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256708	0.39896	.	.	ENSG00000006740	ENST00000379672;ENST00000340825;ENST00000538915	T;T	0.29142	1.58;1.58	5.94	5.94	0.96194	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	M	0.73372	2.23	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	T	0.52335	-0.8589	10	0.56958	D	0.05	.	11.1734	0.48584	0.0:0.9171:0.0:0.0829	.	302;302	A6NCP5;Q17R89	.;RHG44_HUMAN	M	302;302;25	ENSP00000368994:L302M;ENSP00000342566:L302M	ENSP00000342566:L302M	L	+	1	2	ARHGAP44	12793224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.710000	0.47169	2.823000	0.97156	0.637000	0.83480	CTG	.		0.592	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		A	12852499	C	A	12852499	3	1	37	1	0	0	0	0	1	0	0	0	13402	796	28	3	946	3	RICH2	17	12852499	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	4498348	12852499	68342711	77	8784											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	10	9	1	6			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y		.											.	.	0			c.G152A						.						274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	366	15		WXS	Illumina GAIIx	Phase_I	354	14	NM_145301	0	0	4	15	11	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		T	15457087	C	T	15457087	3	4	37	1	0	0	0	0	1	0	0	0	5539	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	2604588	15457087	65738123	78	8785											
PSMD3	5709	broad.mit.edu	37	chr17	38144959	38144959	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaagatctctgatgatctGatgcagaagatcagtactca	9	8	4	7			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:38144959G>T	ENST00000264639.4	+	4	747	c.573G>T	c.(571-573)ctG>ctT	p.L191L	PSMD3_ENST00000541736.1_Silent_p.L53L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	191					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTGATGATCTGATGCAGAAGA	0.493																																					p.L191L	Ovarian(186;531 2051 6385 19668 48409)	.											.	PSMD3-92	0			c.G573T						.						62	63	63					17																	38144959		2203	4300	6503	SO:0001819	synonymous_variant	5709	exon4			TGATCTGATGCAG	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.573G>T	17.37:g.38144959G>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	70	3	NM_002809	0	0	117	117	0	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	CCDS11356.1																																																																																			.		0.493	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		T	38144959	G	T	38144959	2	4	37	1	0	0	0	0	0	0	0	1	12741	1277	45	3		3	PSMD3	17	38144959	Silent	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	22687872	38144959	43050251	79	8786											
LLGL2	3993	broad.mit.edu	37	chr17	73565071	73565071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaggcacgaggacggCacggtgcggttctgggatgc	17	12	1	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr17:73565071C>A	ENST00000392550.3	+	13	1452	c.1335C>A	c.(1333-1335)ggC>ggA	p.G445G	LLGL2_ENST00000577200.1_Silent_p.G445G|LLGL2_ENST00000167462.5_Silent_p.G445G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	445					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)			ACGAGGACGGCACGGTGCGGT	0.667																																					p.G445G		.											.	LLGL2-251	0			c.C1335A						.						41	42	41					17																	73565071		2203	4300	6503	SO:0001819	synonymous_variant	3993	exon13			GGACGGCACGGTG	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.1335C>A	17.37:g.73565071C>A		Somatic	52	2		WXS	Illumina GAIIx	Phase_I	95	8	NM_004524	0	0	2	2	0	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			.		0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		A	73565071	C	A	73565071	2	1	37	1	0	0	0	0	0	0	0	1	8864	697	25	3		3	LLGL2	17	73565071	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	35420112	73565071	7630139	80	8787											
SMCHD1	23347	bcgsc.ca	37	chr18	2688477	2688477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgttgggggcaagcaaGctgtcttctttgttggacaa	14	6	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr18:2688477G>T	ENST00000320876.6	+	6	1062	c.724G>T	c.(724-726)Gct>Tct	p.A242S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A242S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	242					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGGCAAGCAAGCTGTCTTCTT	0.343																																					p.A242S		.											.	SMCHD1-46	0			c.G724T						.						94	88	90					18																	2688477		1854	4098	5952	SO:0001583	missense	23347	exon6			AAGCAAGCTGTCT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.724G>T	18.37:g.2688477G>T	ENSP00000326603:p.Ala242Ser	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_015295	0	0	1	1	0	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761050	0.69763	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.98280	-4.84;-4.84	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.063987	0.64402	D	0.000008	D	0.98086	0.9369	L	0.31476	0.935	0.44539	D	0.997497	D	0.89917	1.0	D	0.87578	0.998	D	0.99914	1.1217	10	0.87932	D	0	.	18.8289	0.92130	0.0:0.0:1.0:0.0	.	242	A6NHR9	SMHD1_HUMAN	S	242	ENSP00000326603:A242S;ENSP00000261598:A242S	ENSP00000261598:A242S	A	+	1	0	SMCHD1	2678477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.927000	0.92846	2.502000	0.84385	0.655000	0.94253	GCT	.		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2688477	G	T	2688477	3	4	37	1	0	0	0	0	1	0	0	0	14833	971	34	3	746	3	SMCHD1	18	2688477	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		2688477	75388771	81	8788											
RAX	30062	hgsc.bcm.edu	37	chr18	56940307	56940307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgccgaggatcccgtcGtccttggtaaaccccaggat	12	12	0	0	rs2271733	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr18:56940307G>T	ENST00000334889.3	-	1	318	c.132C>A	c.(130-132)gaC>gaA	p.D44E	RAX_ENST00000256852.7_Missense_Mutation_p.D44E	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	44			D -> E (in dbSNP:rs2271733). {ECO:0000269|PubMed:14662654}.		camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGATCCCGTCGTCCTTGGTAA	0.746													G|||	980	0.195687	0.1452	0.1571	5008	,	,		10556	0.128		0.3002	False		,,,				2504	0.2536				p.D44E	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.C132A						.	G	GLU/ASP	490,2640		39,412,1114	11	9	10		132	0.1	1	18	dbSNP_100	10	1484,4096		212,1060,1518	yes	missense	RAX	NM_013435.2	45	251,1472,2632	TT,TG,GG		26.595,15.655,22.6636	benign	44/347	56940307	1974,6736	1565	2790	4355	SO:0001583	missense	30062	exon1			CCCGTCGTCCTTG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.132C>A	18.37:g.56940307G>T	ENSP00000334813:p.Asp44Glu	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_013435	0	0	0	0	0	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	CCDS11972.1	453	0.20741758241758243	75	0.1524390243902439	69	0.19060773480662985	76	0.13286713286713286	233	0.3073878627968338	G	12.43	1.936984	0.34189	0.15655	0.26595	ENSG00000134438	ENST00000256852;ENST00000334889;ENST00000555288	T;D;T	0.87966	0.09;-2.32;0.09	5.56	0.117	0.14652	.	0.213892	0.50627	N	0.000107	T	0.00012	0.0000	N	0.12182	0.205	0.42455	P	0.0072349999999999914	B;B	0.22800	0.075;0.004	B;B	0.23574	0.047;0.009	T	0.06481	-1.0824	9	0.06365	T	0.9	.	0.4639	0.00520	0.2353:0.2064:0.3162:0.2421	rs2271733;rs58469971;rs2271733	44;44	Q86V11;Q9Y2V3	.;RX_HUMAN	E	44	ENSP00000256852:D44E;ENSP00000334813:D44E;ENSP00000450583:D44E	ENSP00000256852:D44E	D	-	3	2	RAX	55091287	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	-0.819000	0.04462	0.271000	0.22005	0.561000	0.74099	GAC	G|0.801;T|0.199		0.746	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			T	56940307	G	T	56940307	3	4	37	1	0	0	0	0	1	0	0	0	13141	1136	40	2	920	2	RAX	18	56940307	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	54251830	56940307	21136941	82	8789											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	37	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	13269014	70209321	7867927	83	8790											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000590214.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_019112	0	0	19	36	17	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	37	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		1065044	58063939	84	8791											
PCSK4	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1488279	1488279	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctggaaccactgcaCctgcagagcagagggtgcat	13	12	0	2			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:1488279C>A	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_5'UTR|PCSK4_ENST00000300954.5_Splice_Site_p.V99L	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)		AACCACTGCACCTGCAGAGCA	0.662																																					p.V99L		.											.	PCSK4-90	0			c.G295T						.						34	32	33					19																	1488279		2203	4300	6503	SO:0001631	upstream_gene_variant	54760	exon3			ACTGCACCTGCAG	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.1488279C>A	Exception_encountered	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	139	49	NM_017573	0	0	0	0	0	B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317758	0.40996	.	.	ENSG00000115257	ENST00000300954	T	0.52983	0.64	2.29	2.29	0.28610	Proteinase inhibitor, propeptide (1);	0.000000	0.44902	D	0.000406	T	0.53948	0.1828	M	0.89534	3.04	0.47737	D	0.999508	B	0.28512	0.214	B	0.28232	0.087	T	0.64457	-0.6403	10	0.87932	D	0	.	11.4341	0.50058	0.0:1.0:0.0:0.0	.	99	Q6UW60	PCSK4_HUMAN	L	99	ENSP00000300954:V99L	ENSP00000300954:V99L	V	-	1	0	PCSK4	1439279	1.000000	0.71417	0.992000	0.48379	0.494000	0.33585	3.250000	0.51445	1.272000	0.44329	0.205000	0.17691	GTG	.		0.662	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		A	1488279	C	A	1488279	1	1	37	0	1	0	0	0	0	0	0	0	11641	521	18	3		3	PCSK4	19	1488279	5'Flank	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	423235	1488279	57640704	85	8792											
JSRP1	126306	hgsc.bcm.edu	37	chr19	2253732	2253732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagggccgggggcggcGgcggcggctgcaggggcggc	24	13	1	0	rs74521370	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:2253732G>A	ENST00000300961.6	-	5	387	c.323C>T	c.(322-324)cCg>cTg	p.P108L	JSRP1_ENST00000586471.2_Missense_Mutation_p.P108L	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	108	Pro-rich.		P -> L (polymorphism affecting excitation/contraction coupling in muscle fibers; the sensitivity of CACNA1S voltage sensor is shifted to higher depolarizing voltages in cells carrying this variant; dbSNP:rs74521370). {ECO:0000269|PubMed:22927026}.		protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cgggggcggcggcggcggctg	0.751													G|||	27	0.00539137	0.0015	0.0043	5008	,	,		11527	0		0.0159	False		,,,				2504	0.0061				p.P108L		.											.	JSRP1-91	0			c.C323T						.	G	LEU/PRO	11,3173		0,11,1581	3	5	4		323	1.2	0.9	19	dbSNP_131	4	94,6418		0,94,3162	no	missense	JSRP1	NM_144616.3	98	0,105,4743	AA,AG,GG		1.4435,0.3455,1.0829	benign	108/332	2253732	105,9591	1592	3256	4848	SO:0001583	missense	126306	exon5			GGCGGCGGCGGCG	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.323C>T	19.37:g.2253732G>A	ENSP00000300961:p.Pro108Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_144616	0	0	0	0	0		Missense_Mutation	SNP	ENST00000300961.6	37	CCDS12086.1	14	0.00641025641025641	0	0.0	5	0.013812154696132596	0	0.0	9	0.011873350923482849	G	9.861	1.196429	0.22037	0.003455	0.014435	ENSG00000167476	ENST00000300961	T	0.16073	2.37	4.61	1.22	0.21188	.	0.304893	0.23985	N	0.042624	T	0.04227	0.0117	N	0.12746	0.255	0.09310	N	1	P	0.44195	0.828	B	0.32342	0.144	T	0.32903	-0.9889	10	0.52906	T	0.07	.	6.4814	0.22065	0.3832:0.0:0.6168:0.0	.	108	Q96MG2	JSPR1_HUMAN	L	108	ENSP00000300961:P108L	ENSP00000300961:P108L	P	-	2	0	JSRP1	2204732	0.004000	0.15560	0.888000	0.34837	0.023000	0.10783	0.186000	0.16978	0.899000	0.36444	0.561000	0.74099	CCG	G|0.994;A|0.006		0.751	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		A	2253732	G	A	2253732	3	1	37	1	0	0	0	0	1	0	0	0	7993	1116	39	1	684	1	JSRP1	19	2253732	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	765453	2253732	56875251	86	8793											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_019107	0	0	2	8	6	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	37	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	2416581	4670313	54458670	87	8794											
KANK3	256949	hgsc.bcm.edu	37	chr19	8400651	8400651	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccccggcggcggggacCgggcacaggcgggggccgcc	21	17	0	0	rs11669559	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:8400651C>G	ENST00000593649.1	-	3	125	c.60G>C	c.(58-60)ccG>ccC	p.P20P	KANK3_ENST00000330915.3_Silent_p.P20P			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	20										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						cggcggggaccgggcacaggc	0.692													C|||	700	0.139776	0.2466	0.1297	5008	,	,		8967	0.0327		0.1272	False		,,,				2504	0.1258				p.P20P		.											.	KANK3-90	0			c.G60C						.						1	1	1					19																	8400651		1078	2073	3151	SO:0001819	synonymous_variant	256949	exon3			GGGGACCGGGCAC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.60G>C	19.37:g.8400651C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_198471	0	0	1	1	0	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				C|0.880;G|0.120		0.692	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		G	8400651	C	G	8400651	2	3	37	1	0	0	0	0	0	0	0	1	8005	639	23	2		2	KANK3	19	8400651	Silent	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	3730338	8400651	50728332	88	8795											
ACP5	54	broad.mit.edu	37	chr19	11687251	11687251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacagctgtgtgcggGccagcttcacgtctcggggc	16	13	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:11687251G>T	ENST00000592828.1	-	6	944	c.542C>A	c.(541-543)gCc>gAc	p.A181D	ACP5_ENST00000433365.2_Missense_Mutation_p.A181D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.A181D|ACP5_ENST00000412435.2_Missense_Mutation_p.A181D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	181					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGTGTGCGGGCCAGCTTCAC	0.607																																					p.A181D		.											.	ACP5-90	0			c.C542A						.						44	43	43					19																	11687251		2203	4300	6503	SO:0001583	missense	54	exon5			GTGCGGGCCAGCT	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.542C>A	19.37:g.11687251G>T	ENSP00000468767:p.Ala181Asp	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	89	3	NM_001111034	0	0	4	4	0	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.665005	0.67700	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	D;D;D	0.85088	-1.94;-1.94;-1.94	5.18	5.18	0.71444	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91041	0.4871	10	0.72032	D	0.01	-34.527	17.445	0.87575	0.0:0.0:1.0:0.0	.	181	P13686	PPA5_HUMAN	D	181	ENSP00000218758:A181D;ENSP00000392374:A181D;ENSP00000413456:A181D	ENSP00000218758:A181D	A	-	2	0	ACP5	11548251	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	8.698000	0.91311	2.411000	0.81874	0.561000	0.74099	GCC	.		0.607	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			T	11687251	G	T	11687251	3	4	37	1	0	0	0	0	1	0	0	0	164	1203	42	3	443	3	ACP5	19	11687251	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	3286600	11687251	47441732	89	8796											
FBXW9	84261	broad.mit.edu	37	chr19	12800811	12800813	+	In_Frame_Del	DEL	CCA	CCA	-													gacgctgttggctcggcggtCcaccaccaccagggtgtggt							TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:12800811_12800813delCCA	ENST00000380339.3	-	6	1121_1123	c.1085_1087delTGG	c.(1084-1089)gtggac>gac	p.V362del	FBXW9_ENST00000393261.3_In_Frame_Del_p.V332del|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_In_Frame_Del_p.V352del|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_In_Frame_Del_p.V70del			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	362					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCTCGGCGGTCCACCACCACCAG	0.67																																					p.332_333del		.											.	FBXW9-227	0			c.995_997del						.																																			SO:0001651	inframe_deletion	84261	exon6			GGCGGTCCACCAC	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1085_1087delTGG	19.37:g.12800820_12800822delCCA	ENSP00000369696:p.Val362del	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	93	7	NM_032301	0	0	0	0	0	B3KVP7|Q9BT89	In_Frame_Del	DEL	ENST00000380339.3	37																																																																																				.		0.67	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		-	12800813	CCA	-	12800811	7	5	37	1	0	1	0	1	0	0	0	0	5793	855	30	0	399	0	FBXW9	19	12800811	In_Frame_Del	DEL	CCA	TCGA-OR-A5KV-01A-11D-A29I-10	1113560	12800811	46328172	90	8797											
TSHZ3	57616	broad.mit.edu	37	chr19	31770238	31770240	+	In_Frame_Del	DEL	CTG	CTG	-													cacagctgctgctgctgctaCtgctgctgctgctgctgccg							TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:31770238_31770240delCTG	ENST00000240587.4	-	2	786_788	c.459_461delCAG	c.(457-462)agcagt>agt	p.153_154SS>S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	153	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					gctgctgctactgctgctgctgc	0.611																																					p.153_154del		.											.	TSHZ3-232	0			c.459_461del						.																																			SO:0001651	inframe_deletion	57616	exon2			CTGCTACTGCTGC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.459_461delCAG	19.37:g.31770247_31770249delCTG	ENSP00000240587:p.Ser159del	Somatic	320	0		WXS	Illumina GAIIx	Phase_I	321	7	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	In_Frame_Del	DEL	ENST00000240587.4	37	CCDS12421.2																																																																																			.		0.611	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		-	31770240	CTG	-	31770238	7	5	37	1	0	1	0	1	0	0	0	0	16673	565	20	0	2788	0	TSHZ3	19	31770238	In_Frame_Del	DEL	CTG	TCGA-OR-A5KV-01A-11D-A29I-10	18969427	31770238	27358745	91	8798											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000598904.1_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	37	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	7590482	39360720	19768263	92	8799											
DMWD	1762	broad.mit.edu	37	chr19	46289402	46289402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggggggggtgcgggTagagcacgtcttcagtgagg	22	7	2	2			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:46289402T>G	ENST00000270223.6	-	3	1397	c.1352A>C	c.(1351-1353)tAc>tCc	p.Y451S	DMWD_ENST00000377735.3_Missense_Mutation_p.Y451S|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	451										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGGGTGCGGGTAGAGCACGTC	0.701																																					p.Y451S		.											.	DMWD-90	0			c.A1352C						.						7	7	7					19																	46289402		2139	4195	6334	SO:0001583	missense	1762	exon3			TGCGGGTAGAGCA	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1352A>C	19.37:g.46289402T>G	ENSP00000270223:p.Tyr451Ser	Somatic	61	12		WXS	Illumina GAIIx	Phase_I	205	54	NM_004943	0	0	0	0	0		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	T	6.920	0.539321	0.13250	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.57436	0.4;0.4	4.12	3.08	0.35506	WD40 repeat-like-containing domain (1);	0.237680	0.35772	N	0.002984	T	0.30135	0.0755	N	0.19112	0.55	0.34182	D	0.671074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19811	-1.0294	10	0.22109	T	0.4	-14.2592	4.3652	0.11222	0.1653:0.0:0.2767:0.558	.	136;451;451	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	S	451	ENSP00000366964:Y451S;ENSP00000270223:Y451S	ENSP00000270223:Y451S	Y	-	2	0	DMWD	50981242	0.999000	0.42202	0.724000	0.30704	0.109000	0.19521	0.803000	0.27083	0.819000	0.34492	0.379000	0.24179	TAC	.		0.701	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		G	46289402	T	G	46289402	3	3	37	1	0	0	0	0	1	0	0	0	4607	1638	57	5	684	5	DMWD	19	46289402	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	6928682	46289402	12839581	93	8800											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagctggcgcggcggcAgaggcggcggcaggcgcggc	24	12	0	1	rs1804994	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1	2	1					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015710	0	0	0	25	25	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		G	48258717	A	G	48258717	3	3	37	1	0	0	0	0	1	0	0	0	6501	188	7	4	1200	4	GLTSCR2	19	48258717	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	1969315	48258717	10870266	94	8801											
TPRX1	284355	bcgsc.ca	37	chr19	48305555	48305555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagattgggcctgggatcGggcctgggttcgggcctgag	19	9	0	2	rs147380237		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:48305555G>A	ENST00000322175.3	-	2	868	c.713C>T	c.(712-714)cCg>cTg	p.P238L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P228L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P335L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	238	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.662																																					p.P238L	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.C713T						.						10	8	9					19																	48305555		2095	4129	6224	SO:0001583	missense	284355	exon2			GGGATCGGGCCTG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.713C>T	19.37:g.48305555G>A	ENSP00000323455:p.Pro238Leu	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	41	6	NM_198479	0	0	0	0	0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	g	8.014	0.758252	0.15846	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.93659	-2.01;-3.26	0.495	0.495	0.16890	.	.	.	.	.	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.76977	-0.2759	8	0.45353	T	0.12	.	.	.	.	.	238	Q8N7U7	TPRX1_HUMAN	L	238;335;228	ENSP00000323455:P238L;ENSP00000438832:P335L	ENSP00000323455:P238L	P	-	2	0	TPRX1	52997367	0.000000	0.05858	0.020000	0.16555	0.015000	0.08874	-2.180000	0.01258	0.561000	0.29186	0.420000	0.28162	CCG	G|0.989;A|0.011		0.662	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305555	G	A	48305555	3	1	37	1	0	0	0	0	1	0	0	0	16470	1116	39	1	526	1	TPRX1	19	48305555	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	46838	48305555	10823428	95	8802											
KCNA7	3743	hgsc.bcm.edu	37	chr19	49575618	49575618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggccgccgcagccgcccAccggactggtagtagtagag	15	15	0	1	rs71352730	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:49575618A>G	ENST00000221444.1	-	1	580	c.225T>C	c.(223-225)ggT>ggC	p.G75G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	75					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GCAGCCGCCCACCGGACTGGT	0.731													a|||	708	0.141374	0.2837	0.1398	5008	,	,		7174	0.0486		0.0875	False		,,,				2504	0.1012				p.G75G	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7-90	0			c.T225C						.			790,3356		66,658,1349	9	12	11		225	-0.4	1	19	dbSNP_130	11	613,7491		29,555,3468	no	coding-synonymous	KCNA7	NM_031886.2		95,1213,4817	GG,GA,AA		7.5642,19.0545,11.4531		75/457	49575618	1403,10847	2073	4052	6125	SO:0001819	synonymous_variant	3743	exon1			CCGCCCACCGGAC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.225T>C	19.37:g.49575618A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	11	NM_031886	0	0	0	0	0	A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	CCDS12755.1																																																																																			A|0.868;G|0.132		0.731	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		G	49575618	A	G	49575618	2	3	37	1	0	0	0	0	0	0	0	1	8035	146	6	4		4	KCNA7	19	49575618	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	1270063	49575618	9553365	96	8803											
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51021057	51021057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccacccccactggccAcggcggccgcggcggccacg	12	22	0	0	rs61751957	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:51021057A>G	ENST00000599957.1	-	3	2110	c.1913T>C	c.(1912-1914)gTg>gCg	p.V638A	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V638A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	638	Poly-Ala.			AV -> TA (in Ref. 2; AAH56207). {ECO:0000305}.	positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCACTGGCCACGGCGGCCGC	0.726													A|||	1071	0.213858	0.1702	0.2579	5008	,	,		10941	0.125		0.2893	False		,,,				2504	0.2556				p.V638A		.											.	LRRC4B-205	0			c.T1913C						.	A	ALA/VAL	591,3051		57,477,1287	13	15	14		1913	-0.8	0	19	dbSNP_129	14	2294,5564		347,1600,1982	no	missense	LRRC4B	NM_001080457.1	64	404,2077,3269	GG,GA,AA		29.1932,16.2273,25.087	benign	638/714	51021057	2885,8615	1821	3929	5750	SO:0001583	missense	94030	exon3			CTGGCCACGGCGG	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1913T>C	19.37:g.51021057A>G	ENSP00000471502:p.Val638Ala	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	7	NM_001080457	0	0	7	10	3	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	484	0.2216117216117216	86	0.17479674796747968	89	0.24585635359116023	74	0.12937062937062938	235	0.3100263852242744	A	2.037	-0.421084	0.04734	0.162273	0.291932	ENSG00000131409	ENST00000389201	T	0.27402	1.67	2.86	-0.757	0.11054	.	0.245138	0.17282	U	0.179967	T	0.00012	0.0000	L	0.36672	1.1	0.47183	P	6.540000000000434E-4	B	0.06786	0.001	B	0.04013	0.001	T	0.44982	-0.9292	9	0.12430	T	0.62	.	6.0652	0.19860	0.596:0.0:0.404:0.0	rs61751957	638	Q9NT99	LRC4B_HUMAN	A	638	ENSP00000373853:V638A	ENSP00000373853:V638A	V	-	2	0	LRRC4B	55712869	1.000000	0.71417	0.038000	0.18304	0.337000	0.28794	2.356000	0.44116	-0.425000	0.07371	-1.467000	0.01014	GTG	A|0.777;G|0.223		0.726	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		G	51021057	A	G	51021057	3	3	37	1	0	0	0	0	1	0	0	0	9042	159	6	4	232	4	LRRC4B	19	51021057	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	1445439	51021057	8107926	97	8804											
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_017607	0	0	1	3	2		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	37	1	0	0	0	0	0	0	0	1	12398	378	14	4		4	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	4607552	55628609	3500374	98	8805											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000313949.7_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		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)	p.R201C(228)|p.R844C(9)|p.R201S(5)		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)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.R844C	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	.	GNAS-4767	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2530T						.						80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	2778	exon8			CGCTGCCGTGTCC	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	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	133	64	NM_080425	0	1	1242	2456	1213	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	C|1.000		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		T	57484420	C	T	57484420	3	4	37	1	0	0	0	0	1	0	0	0	6536	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10		57484420	5541100	99	8806											
KRTAP10-2	386679	hgsc.bcm.edu	37	chr21	45970771	45970772	+	Missense_Mutation	DNP	CA	CA	TG													gcagatggacttgcagcagaCaggcttgcagcagacggaca					rs76021731|rs200215960|rs67692969|rs71199610	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr21:45970771_45970772CA>TG	ENST00000391621.1	-	1	616_617	c.570_571TG>CA	c.(568-573)ccTGtc>ccCAtc	p.V191I	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	191	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TTGCAGCAGACAGGCTTGCAGC	0.609																																					p.V191I		.											.	KRTAP10-2-135	0			c.T570C						.																																			SO:0001583	missense	386679	exon1			GCAGACAGGCTTG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570_571delinsTG	21.37:g.45970771_45970772delinsTG	ENSP00000375479:p.Val191Ile	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	216	0	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	DNP	ENST00000391621.1	37	CCDS42955.1																																																																																			A|0.908;G|0.092		0.609	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			TG	45970772	CA	TG	45970771	3	4	37	1	0	0	0	0	1	0	0	0	8536	478	17	3	200	3	KRTAP10-2	21	45970771	Missense_Mutation	DNP	CA	TCGA-OR-A5KV-01A-11D-A29I-10		45970771	2159124	100	8807	78	2									
KRTAP10-2	386679	hgsc.bcm.edu;ucsc.edu	37	chr21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A													gatggacttgcagcagacagGcttgcagcagacggacacac					rs76536096|rs67692969|rs71199610	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																					p.P190S		.											.	KRTAP10-2-135	0			c.C568T						.						110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679	exon1			AGACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	208	24	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT	G|0.917;A|0.083		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	37	1	0	0	0	0	1	0	0	0	8536	1203	42	3	203	3	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	3	45970774	2159121	101	8808	78	2									
PCNT	5116	hgsc.bcm.edu	37	chr21	47831845	47831845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacaggcggcaggcccGcagagccacagctcacacac	13	16	1	1	rs34268261	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr21:47831845G>A	ENST00000359568.5	+	28	5965	c.5858G>A	c.(5857-5859)cGc>cAc	p.R1953H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1953			R -> H (in dbSNP:rs34268261).		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)					CGGCAGGCCCGCAGAGCCACA	0.716													G|||	117	0.0233626	0.0197	0.0303	5008	,	,		11671	0.001		0.0646	False		,,,				2504	0.0041				p.R1953H		.											.	PCNT-141	0			c.G5858A						.	G	HIS/ARG	143,4171		2,139,2016	8	9	9		5858	-10.6	0	21	dbSNP_126	9	487,7963		13,461,3751	no	missense	PCNT	NM_006031.5	29	15,600,5767	AA,AG,GG		5.7633,3.3148,4.9358	benign	1953/3337	47831845	630,12134	2157	4225	6382	SO:0001583	missense	5116	exon28			AGGCCCGCAGAGC	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.5858G>A	21.37:g.47831845G>A	ENSP00000352572:p.Arg1953His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_006031	0	0	0	0	0	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	95	0.043498168498168496	24	0.04878048780487805	16	0.04419889502762431	1	0.0017482517482517483	54	0.0712401055408971	G	9.958	1.222045	0.22457	0.033148	0.057633	ENSG00000160299	ENST00000359568	T	0.01484	4.84	5.31	-10.6	0.00265	.	3.261980	0.01350	N	0.011890	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.38001	-0.9681	10	0.25751	T	0.34	.	5.4775	0.16704	0.5814:0.173:0.1581:0.0875	rs34268261	1835;1953	O95613-2;O95613	.;PCNT_HUMAN	H	1953	ENSP00000352572:R1953H	ENSP00000352572:R1953H	R	+	2	0	PCNT	46656273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-4.139000	0.00070	-0.997000	0.02515	CGC	G|0.955;A|0.045		0.716	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47831845	G	A	47831845	3	1	37	1	0	0	0	0	1	0	0	0	11629	1087	38	1	5968	1	PCNT	21	47831845	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	1861071	47831845	298050	102	8809											
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	58	7	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	37	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5KV-01A-11D-A29I-10		21343966	29960600	103	8810											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	13	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	37	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5KV-01A-11D-A29I-10	16778496	38122462	13182104	104	8811											
SSX3	10214	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	48214670	48214670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtctccttgcaaaggtGtcatctccgttcatggcaca	11	11	4	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chrX:48214670G>T	ENST00000298396.2	-	2	67	c.15C>A	c.(13-15)gaC>gaA	p.D5E	SSX3_ENST00000376895.1_5'Flank|SSX3_ENST00000376893.3_Missense_Mutation_p.D5E	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TTGCAAAGGTGTCATCTCCGT	0.517																																					p.D5E	Colon(37;227 826 19399 40970 48007)	.											.	SSX3-130	0			c.C15A						.						256	204	221					X																	48214670		2203	4300	6503	SO:0001583	missense	10214	exon2			AAAGGTGTCATCT	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.15C>A	X.37:g.48214670G>T	ENSP00000298396:p.Asp5Glu	Somatic	1372	4		WXS	Illumina GAIIx	Phase_I	3238	460	NM_021014	0	0	0	0	0	O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436158	0.12104	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.10005	3.01;2.92	1.73	-1.81	0.07882	.	1.122620	0.06826	N	0.793117	T	0.08268	0.0206	L	0.41824	1.3	0.09310	N	1	B;B	0.16166	0.016;0.002	B;B	0.17979	0.02;0.005	T	0.41215	-0.9521	10	0.45353	T	0.12	.	2.024	0.03515	0.3859:0.0:0.3565:0.2576	.	5;5	Q9BRW7;Q99909	.;SSX3_HUMAN	E	5	ENSP00000298396:D5E;ENSP00000366090:D5E	ENSP00000298396:D5E	D	-	3	2	SSX3	48099614	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.853000	0.04303	-0.686000	0.05170	0.181000	0.17075	GAC	.		0.517	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		T	48214670	G	T	48214670	3	4	37	1	0	0	0	0	1	0	0	0	15252	1368	48	3	626	3	SSX3	23	48214670	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10		48214670	107055890	105	8812											
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	49067892	49067892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatcacaccgatttcCgggaaggctggcaagcatta	11	11	2	0	rs370863603		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chrX:49067892C>T	ENST00000376265.2	-	36	4244	c.4183G>A	c.(4183-4185)Gga>Aga	p.G1395R	CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1330R|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1384R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1395					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)	CACCGATTTCCGGGAAGGCTG	0.532																																					p.G1395R		.											.	CACNA1F-176	0			c.G4183A						.	C	ARG/GLY	0,3835		0,0,1632,571	101	79	86		4183	5.4	0.6	X		86	1,6727		0,1,2427,1872	no	missense	CACNA1F	NM_005183.2	125	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	1395/1978	49067892	1,10562	2203	4300	6503	SO:0001583	missense	778	exon36			GATTTCCGGGAAG	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.4183G>A	X.37:g.49067892C>T	ENSP00000365441:p.Gly1395Arg	Somatic	504	0		WXS	Illumina GAIIx	Phase_I	1381	184	NM_005183	0	0	0	0	0	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958794	0.74016	0.0	1.49E-4	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98264	-4.83;-4.83;-4.83	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	L	0.56124	1.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99675	1.0997	10	0.51188	T	0.08	.	16.9052	0.86124	0.0:1.0:0.0:0.0	.	1384;1395	F5CIQ9;O60840	.;CAC1F_HUMAN	R	1330;1384;1395	ENSP00000365427:G1330R;ENSP00000321618:G1384R;ENSP00000365441:G1395R	ENSP00000321618:G1384R	G	-	1	0	CACNA1F	48954836	1.000000	0.71417	0.559000	0.28332	0.852000	0.48524	7.676000	0.84012	2.254000	0.74563	0.523000	0.50628	GGA	.		0.532	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49067892	C	T	49067892	3	4	37	1	0	0	0	0	1	0	0	0	2550	661	23	1	1802	1	CACNA1F	23	49067892	Missense_Mutation	SNP	C	TCGA-OR-A5KV-01A-11D-A29I-10	853222	49067892	106202668	106	8813											
SHROOM4	57477	broad.mit.edu	37	chrX	50376327	50376327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaatttggcatcatatTtctctttagcaaggcagggc	10	8	2	0			TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chrX:50376327T>C	ENST00000289292.7	-	4	3029	c.2746A>G	c.(2746-2748)Aat>Gat	p.N916D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.N800D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.N916D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	916	Cys-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)					GGCATCATATTTCTCTTTAGC	0.493																																					p.N916D		.											.	SHROOM4-131	0			c.A2746G						.						78	62	67					X																	50376327		2203	4300	6503	SO:0001583	missense	57477	exon4			TCATATTTCTCTT	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.2746A>G	X.37:g.50376327T>C	ENSP00000289292:p.Asn916Asp	Somatic	431	1		WXS	Illumina GAIIx	Phase_I	1209	21	NM_020717	0	0	1	1	0	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105901	0.56291	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.94046	-3.34;-3.34;-3.34	5.67	5.67	0.87782	.	0.425932	0.23937	N	0.043084	D	0.89866	0.6839	L	0.29908	0.895	0.34746	D	0.731269	P	0.45044	0.849	B	0.42798	0.398	D	0.93561	0.6895	10	0.66056	D	0.02	.	13.7694	0.63015	0.0:0.0:0.0:1.0	.	916	Q9ULL8	SHRM4_HUMAN	D	916;916;800	ENSP00000289292:N916D;ENSP00000365188:N916D;ENSP00000421450:N800D	ENSP00000289292:N916D	N	-	1	0	SHROOM4	50393067	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	4.590000	0.61013	1.896000	0.54893	0.345000	0.21793	AAT	.		0.493	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		C	50376327	T	C	50376327	3	2	37	1	0	0	0	0	1	0	0	0	14341	1841	64	4	1759	4	SHROOM4	23	50376327	Missense_Mutation	SNP	T	TCGA-OR-A5KV-01A-11D-A29I-10	1308435	50376327	104894233	107	8814											
GPR112	139378	broad.mit.edu	37	chrX	135427636	135427636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactcctgaaatcacacttGcatctacagtggctgaaact	6	11	2	2	rs373273371		TCGA-OR-A5KV-01A-11D-A29I-10	TCGA-OR-A5KV-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d8ea55c4-f064-4756-9e70-680a224f3c28	49134116-41eb-416d-a052-81c9fa07055b	g.chrX:135427636G>T	ENST00000394143.1	+	6	2062	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	GPR112_ENST00000412101.1_Missense_Mutation_p.A386S|GPR112_ENST00000370652.1_Missense_Mutation_p.A591S|GPR112_ENST00000287534.4_Missense_Mutation_p.A528S|GPR112_ENST00000394141.1_Missense_Mutation_p.A386S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	591					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATCACACTTGCATCTACAGT	0.423																																					p.A591S		.											.	GPR112-183	0			c.G1771T						.						112	83	93					X																	135427636		2203	4300	6503	SO:0001583	missense	139378	exon6			ACACTTGCATCTA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1771G>T	X.37:g.135427636G>T	ENSP00000377699:p.Ala591Ser	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	80	3	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	8.649	0.897692	0.17686	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.69;1.55	3.41	1.51	0.23008	.	.	.	.	.	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27732	0.187;0.015;0.039	B;B;B	0.26770	0.073;0.01;0.017	T	0.21690	-1.0238	9	0.48119	T	0.1	.	3.9732	0.09462	0.14:0.0:0.6268:0.2332	.	528;386;591	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	591;591;386;528;386	ENSP00000377699:A591S;ENSP00000359686:A591S;ENSP00000416526:A386S;ENSP00000287534:A528S;ENSP00000377697:A386S	ENSP00000287534:A528S	A	+	1	0	GPR112	135255302	0.033000	0.19621	0.001000	0.08648	0.008000	0.06430	0.398000	0.20899	0.107000	0.17824	0.411000	0.27672	GCA	.		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135427636	G	T	135427636	3	4	37	1	0	0	0	0	1	0	0	0	6655	1319	46	3	1781	3	GPR112	23	135427636	Missense_Mutation	SNP	G	TCGA-OR-A5KV-01A-11D-A29I-10	85051309	135427636	19842924	108	8815											
C1orf127	148345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11008485	11008485	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaggtgcagccacatcCccgcttgacaagcctctcag	10	16	2	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:11008485C>A	ENST00000377008.4	-	11	1652	c.1206G>T	c.(1204-1206)ggG>ggT	p.G402G	C1orf127_ENST00000377004.4_Silent_p.G569G			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	402										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAGCCACATCCCCGCTTGACA	0.637																																					p.G569G		.											.	C1orf127-91	0			c.G1707T						.						28	29	29					1																	11008485		2203	4300	6503	SO:0001819	synonymous_variant	148345	exon12			CACATCCCCGCTT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1206G>T	1.37:g.11008485C>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	97	80	NM_001170754	0	0	2	2	0	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		.	.	.	.	.	.	.	.	.	.	C	3.736	-0.054541	0.07362	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	T;T	0.29655	1.99;1.56	4.38	-2.93	0.05598	.	2.239560	0.02143	N	0.057359	T	0.23886	0.0578	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20571	-1.0271	7	0.51188	T	0.08	-4.0258	3.1239	0.06401	0.3045:0.3188:0.0:0.3766	.	.	.	.	V	404;521	ENSP00000387816:G404V;ENSP00000429704:G521V	ENSP00000387816:G404V	G	-	2	0	C1orf127	10931072	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.499000	0.02285	-0.438000	0.07232	0.313000	0.20887	GGG	.		0.637	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		A	11008485	C	A	11008485	2	1	38	1	0	0	0	0	0	0	0	1	2001	610	22	3		3	C1orf127	1	11008485	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10		11008485	238242136	1	8816											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	38	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	142225216	153233701	96016920	2	8817											
C1orf9	51430	ucsc.edu	37	chr1	172579236	172579236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaaaactgagaagagggCtttaaaacgaagacgatcta	10	6	1	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:172579236C>T	ENST00000263688.3	+	24	3821	c.3602C>T	c.(3601-3603)gCt>gTt	p.A1201V	SUCO_ENST00000610051.1_Missense_Mutation_p.A830V|SUCO_ENST00000367723.4_Missense_Mutation_p.A1352V|SUCO_ENST00000608151.1_Missense_Mutation_p.A1353V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1201					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)											GAGAAGAGGGCTTTAAAACGA	0.403																																					p.A1201V		.											.	.	0			c.C3602T						.						63	63	63					1																	172579236		2203	4299	6502	SO:0001583	missense	51430	exon24			AGAGGGCTTTAAA	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.3602C>T	1.37:g.172579236C>T	ENSP00000263688:p.Ala1201Val	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	91	1	NM_014283	0	0	25	30	5	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379624	0.61845	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.56	4.64	0.57946	.	0.119853	0.56097	D	0.000027	T	0.55401	0.1918	M	0.65975	2.015	0.43058	D	0.994676	D;P;P	0.57257	0.979;0.835;0.605	P;B;B	0.49999	0.628;0.322;0.244	T	0.62315	-0.6880	9	0.66056	D	0.02	-16.7926	13.5945	0.61982	0.0:0.9228:0.0:0.0772	.	830;1353;1201	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	1353;1201	.	ENSP00000263688:A1201V	A	+	2	0	C1orf9	170845859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.370000	0.59517	2.617000	0.88574	0.650000	0.86243	GCT	.		0.403	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		T	172579236	C	T	172579236	3	4	38	1	0	0	0	0	1	0	0	0	2074	797	28	3	3696	3	C1orf9	1	172579236	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	19345535	172579236	76671385	3	8818											
LBR	3930	broad.mit.edu	37	chr1	225600346	225600346	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggataaaagcatagaaTcctttaaaaaaaaaaaaaaa	5	4	1	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:225600346T>A	ENST00000338179.2	-	8	1019	c.894A>T	c.(892-894)ggA>ggT	p.G298G	LBR_ENST00000272163.4_Splice_Site_p.G298G|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	298					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)			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)		AAGCATAGAATCCTTTAAAAA	0.348																																					p.G298G		.											.	LBR-228	0			c.A894T						.						30	32	32					1																	225600346		2203	4300	6503	SO:0001630	splice_region_variant	3930	exon8			ATAGAATCCTTTA	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.893-1A>T	1.37:g.225600346T>A		Somatic	77	10		WXS	Illumina GAIIx	Phase_I	90	15	NM_194442	0	0	0	0	0	B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	CCDS1545.1																																																																																			.		0.348	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	Silent	A	225600346	T	A	225600346	5	1	38	1	0	0	0	0	0	0	1	0	8680	1449	50	5	981	5	LBR	1	225600346	Splice_Site	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	53021110	225600346	23650275	4	8819											
EGLN1	54583	hgsc.bcm.edu	37	chr1	231557164	231557164	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtacaggttcgccttctcCtggaacagcgatgagcgggc	15	11	1	1	rs61750991	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:231557164C>G	ENST00000366641.3	-	1	3626	c.471G>C	c.(469-471)caG>caC	p.Q157H	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TCGCCTTCTCCTGGAACAGCG	0.766													C|||	33	0.00658946	0	0.0029	5008	,	,		9987	0.001		0.0268	False		,,,				2504	0.0031				p.Q157H		.											.	EGLN1-226	0			c.G471C						.	C	HIS/GLN	17,3709		0,17,1846	6	6	6		471	-2.4	0	1	dbSNP_129	6	157,7197		2,153,3522	yes	missense	EGLN1	NM_022051.2	24	2,170,5368	GG,GC,CC		2.1349,0.4563,1.5704	possibly-damaging	157/427	231557164	174,10906	1863	3677	5540	SO:0001583	missense	54583	exon1			CTTCTCCTGGAAC	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.471G>C	1.37:g.231557164C>G	ENSP00000355601:p.Gln157His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	26	24	NM_022051	0	0	0	2	2		Missense_Mutation	SNP	ENST00000366641.3	37	CCDS1595.1	27	0.012362637362637362	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	21	0.027704485488126648	C	14.92	2.680157	0.47886	0.004563	0.021349	ENSG00000135766	ENST00000366641	D	0.86164	-2.08	4.06	-2.39	0.06602	.	.	.	.	.	T	0.49201	0.1543	N	0.14661	0.345	0.09310	N	1	B	0.30664	0.289	B	0.28916	0.096	T	0.53788	-0.8389	9	0.38643	T	0.18	0.2922	5.8621	0.18754	0.1263:0.41:0.3885:0.0752	rs61750991	157	Q9GZT9	EGLN1_HUMAN	H	157	ENSP00000355601:Q157H	ENSP00000355601:Q157H	Q	-	3	2	EGLN1	229623787	0.007000	0.16637	0.000000	0.03702	0.015000	0.08874	0.147000	0.16202	-0.278000	0.09180	0.557000	0.71058	CAG	C|0.988;G|0.012		0.766	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		G	231557164	C	G	231557164	3	3	38	1	0	0	0	0	1	0	0	0	4982	680	24	3	829	3	EGLN1	1	231557164	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	5956818	231557164	17693457	5	8820											
OR2M5	127059	ucsc.edu	37	chr1	248309020	248309020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactaatcctctcatgcaatGacacatcaatatttgaaaag	4	9	2	2	rs139290187	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr1:248309020G>A	ENST00000366476.1	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATGCAATGACACATCAAT	0.418																																					p.D191N		.											.	OR2M5-71	0			c.G571A						.						284	272	276					1																	248309020		2203	4300	6503	SO:0001583	missense	127059	exon1			TGCAATGACACAT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.571G>A	1.37:g.248309020G>A	ENSP00000355432:p.Asp191Asn	Somatic	276	1		WXS	Illumina GAIIx	Phase_I	59	6	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186763	0.38609	.	.	ENSG00000162727	ENST00000366476	T	0.00231	8.49	3.05	-0.584	0.11702	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.00178	0.0005	M	0.63843	1.955	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.40739	-0.9547	10	0.52906	T	0.07	.	6.3472	0.21355	0.2028:0.2355:0.5617:0.0	.	191	A3KFT3	OR2M5_HUMAN	N	191	ENSP00000355432:D191N	ENSP00000355432:D191N	D	+	1	0	OR2M5	246375643	0.002000	0.14202	0.001000	0.08648	0.566000	0.35808	0.608000	0.24223	-0.004000	0.14419	0.492000	0.49549	GAC	G|0.999;A|0.001		0.418	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248309020	G	A	248309020	3	1	38	1	0	0	0	0	1	0	0	0	11052	1290	45	3	573	3	OR2M5	1	248309020	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	16751856	248309020	941601	6	8821											
SNTG2	54221	bcgsc.ca	37	chr2	1271230	1271230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggccctattgcttcagcAtcgtggccggccatgggaag	14	11	1	1	rs13023962	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:1271230A>G	ENST00000308624.5	+	14	1300	c.1171A>G	c.(1171-1173)Atc>Gtc	p.I391V	SNTG2_ENST00000407292.1_Missense_Mutation_p.I264V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	391	PH.		I -> V (in dbSNP:rs13023962).		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)		TTGCTTCAGCATCGTGGCCGG	0.517													G|||	1803	0.360024	0.5015	0.232	5008	,	,		17276	0.3204		0.2515	False		,,,				2504	0.4121				p.I391V		.											.	SNTG2-136	0			c.A1171G						.	G	VAL/ILE	1707,2159		401,905,627	53	52	53		1171	1.7	0	2	dbSNP_121	53	1994,6276		238,1518,2379	yes	missense	SNTG2	NM_018968.3	29	639,2423,3006	GG,GA,AA		24.1112,44.1542,30.496	benign	391/540	1271230	3701,8435	1933	4135	6068	SO:0001583	missense	54221	exon14			TTCAGCATCGTGG	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.1171A>G	2.37:g.1271230A>G	ENSP00000311837:p.Ile391Val	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	225	7	NM_018968	0	0	0	0	0	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	660	0.3021978021978022	217	0.4410569105691057	76	0.20994475138121546	177	0.3094405594405594	190	0.25065963060686014	G	0	-2.618827	0.00118	0.441542	0.241112	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68765	1.34;-0.35	4.61	1.67	0.24075	Pleckstrin homology domain (1);	0.208918	0.41097	N	0.000951	T	0.00012	0.0000	N	0.00387	-1.565	0.46774	P	8.010000000000517E-4	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.38308	-0.9667	9	0.02654	T	1	.	5.3079	0.15813	0.2331:0.2745:0.4924:0.0	rs13023962;rs60136596	264;391	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	V	391;264	ENSP00000311837:I391V;ENSP00000385020:I264V	ENSP00000311837:I391V	I	+	1	0	SNTG2	1253811	0.999000	0.42202	0.047000	0.18901	0.028000	0.11728	1.877000	0.39598	-0.223000	0.09943	-0.733000	0.03571	ATC	A|0.705;G|0.295		0.517	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		G	1271230	A	G	1271230	3	3	38	1	0	0	0	0	1	0	0	0	14920	217	8	4	1225	4	SNTG2	2	1271230	Missense_Mutation	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10		1271230	241928143	7	8822											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	38	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	210001	1481231	241718142	8	8823											
CXCR4	7852	broad.mit.edu	37	chr2	136872768	136872768	+	Frame_Shift_Del	DEL	G	G	-													ggcgaagaaagccaggatgaGgatgactgtggtcttgaggg							TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:136872768delG	ENST00000241393.3	-	2	834	c.730delC	c.(730-732)ctcfs	p.L244fs	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Frame_Shift_Del_p.L248fs	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	244				VIL -> IIP (in Ref. 12; AAK29630). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCCAGGATGAGGATGACTGTG	0.512																																					p.L248fs		.											.	CXCR4-1082	0			c.742delC						.						177	163	168					2																	136872768		2203	4300	6503	SO:0001589	frameshift_variant	7852	exon1			GGATGAGGATGAC	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.730delC	2.37:g.136872768delG	ENSP00000241393:p.Leu244fs	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	188	8	NM_001008540	0	0	0	0	0	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Frame_Shift_Del	DEL	ENST00000241393.3	37	CCDS46420.1																																																																																			.		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			-	136872768	G	-	136872768	7	5	38	1	0	1	0	1	0	0	0	0	4102	1000	35	0	332	0	CXCR4	2	136872768	Frame_Shift_Del	DEL	G	TCGA-OR-A5KW-01A-11D-A29I-10	135391537	136872768	106326605	9	8824											
ITGB6	3694	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	160994644	160994644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccgttgttacagatggCtgtaaatgacaagttgagtc	12	6	0	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:160994644C>T	ENST00000283249.2	-	9	1411	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	ITGB6_ENST00000409872.1_Missense_Mutation_p.A392T|ITGB6_ENST00000409967.2_Missense_Mutation_p.A392T|ITGB6_ENST00000428609.2_Missense_Mutation_p.A350T	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	392					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						TTACAGATGGCTGTAAATGAC	0.428																																					p.A392T		.											.	ITGB6-227	0			c.G1174A						.						265	223	237					2																	160994644		2203	4300	6503	SO:0001583	missense	3694	exon9			AGATGGCTGTAAA		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.1174G>A	2.37:g.160994644C>T	ENSP00000283249:p.Ala392Thr	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	175	15	NM_000888	0	0	0	0	0	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917390	0.52546	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.3	4.38	0.52667	Integrin beta subunit, N-terminal (2);	0.057596	0.64402	D	0.000002	T	0.55862	0.1947	L	0.43646	1.37	0.54753	D	0.999981	B;B	0.26577	0.153;0.153	B;B	0.24848	0.056;0.056	T	0.59332	-0.7474	10	0.62326	D	0.03	.	15.8753	0.79156	0.1356:0.8644:0.0:0.0	.	350;392	E9PEE8;P18564	.;ITB6_HUMAN	T	392;350;392;392	ENSP00000283249:A392T;ENSP00000408024:A350T;ENSP00000386828:A392T;ENSP00000386367:A392T	ENSP00000283249:A392T	A	-	1	0	ITGB6	160702890	0.900000	0.30661	0.985000	0.45067	0.649000	0.38597	1.856000	0.39389	2.648000	0.89879	0.650000	0.86243	GCC	.		0.428	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		T	160994644	C	T	160994644	3	4	38	1	0	0	0	0	1	0	0	0	7926	797	28	3	1220	3	ITGB6	2	160994644	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	24121876	160994644	82204729	10	8825											
SCRN3	79634	bcgsc.ca	37	chr2	175263063	175263063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattacctccagcaacagtcGataacaggattatttttgga	7	9	0	0	rs10497410	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:175263063G>A	ENST00000272732.6	+	2	134	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SCRN3_ENST00000409673.3_Intron|CIR1_ENST00000362053.5_5'Flank|CIR1_ENST00000342016.3_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	18			D -> N (in dbSNP:rs10497410).				dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGCAACAGTCGATAACAGGAT	0.333													G|||	426	0.0850639	0.0121	0.1556	5008	,	,		14445	0.006		0.2127	False		,,,				2504	0.0838				p.D18N		.											.	SCRN3-91	0			c.G52A						.	G	,ASN/ASP	203,4203	117.1+/-155.0	6,191,2006	108	115	113		,52	4.2	0	2	dbSNP_119	113	1948,6652	338.3+/-322.7	224,1500,2576	yes	intron,missense	SCRN3	NM_001193528.1,NM_024583.4	,23	230,1691,4582	AA,AG,GG		22.6512,4.6074,16.5385	,benign	,18/425	175263063	2151,10855	2203	4300	6503	SO:0001583	missense	79634	exon2			ACAGTCGATAACA	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.52G>A	2.37:g.175263063G>A	ENSP00000272732:p.Asp18Asn	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	40	4	NM_024583	0	0	5	5	0	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	229	0.10485347985347986	7	0.014227642276422764	61	0.1685082872928177	4	0.006993006993006993	157	0.20712401055408972	G	11.60	1.686750	0.29962	0.046074	0.226512	ENSG00000144306	ENST00000458563;ENST00000272732;ENST00000424069;ENST00000427038;ENST00000548031	T;T;T;T;T	0.29917	2.16;3.01;1.55;1.55;2.16	6.06	4.25	0.50352	.	0.404667	0.31347	N	0.007802	T	0.00012	0.0000	L	0.35723	1.085	0.53005	P	3.2999999999949736E-5	P	0.36249	0.545	B	0.28784	0.094	T	0.28744	-1.0034	9	0.10377	T	0.69	0.007	12.0732	0.53628	0.0657:0.1212:0.8131:0.0	rs10497410;rs17255662;rs52797928;rs57473616;rs10497410	18	Q0VDG4	SCRN3_HUMAN	N	18	ENSP00000396884:D18N;ENSP00000272732:D18N;ENSP00000402086:D18N;ENSP00000408376:D18N;ENSP00000446727:D18N	ENSP00000272732:D18N	D	+	1	0	SCRN3	174971309	1.000000	0.71417	0.024000	0.17045	0.978000	0.69477	6.412000	0.73303	0.881000	0.35993	0.643000	0.83706	GAT	G|0.866;A|0.134		0.333	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		A	175263063	G	A	175263063	3	1	38	1	0	0	0	0	1	0	0	0	13985	1058	37	1	54	1	SCRN3	2	175263063	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	14268419	175263063	67936310	11	8826											
PDE11A	50940	bcgsc.ca	37	chr2	178762824	178762824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagtaaaacagaacagcgTtcacatttcagcagagtttg	10	7	2	2	rs71423514	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:178762824T>C	ENST00000286063.6	-	4	1580	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E	PDE11A_ENST00000449286.2_Silent_p.E63E|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.E171E|PDE11A_ENST00000409504.1_Silent_p.E63E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	421	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CAGAACAGCGTTCACATTTCA	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				T|||	301	0.0601038	0.0061	0.0735	5008	,	,		15586	0.0149		0.1362	False		,,,				2504	0.092				p.E421E		.											.	PDE11A-93	0			c.A1263G						.	T	,,	137,4269	98.0+/-136.7	4,129,2070	142	134	137		513,189,1263	1.7	1	2	dbSNP_130	137	1324,7276	260.3+/-283.2	92,1140,3068	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE11A	NM_001077197.1,NM_001077358.1,NM_016953.3	,,	96,1269,5138	CC,CT,TT		15.3953,3.1094,11.2333	,,	171/684,63/576,421/934	178762824	1461,11545	2203	4300	6503	SO:0001819	synonymous_variant	50940	exon4	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	ACAGCGTTCACAT	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1263A>G	2.37:g.178762824T>C		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	76	5	NM_016953	0	0	0	0	0	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	159	0.07280219780219781	6	0.012195121951219513	29	0.08011049723756906	14	0.024475524475524476	110	0.14511873350923482	T	9.875	1.199996	0.22121	0.031094	0.153953	ENSG00000128655	ENST00000433879	.	.	.	5.89	1.66	0.24008	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11036	-1.0604	3	.	.	.	.	10.0467	0.42190	0.0:0.3364:0.0:0.6636	.	.	.	.	S	60	.	.	N	-	2	0	PDE11A	178471070	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.296000	0.19083	0.431000	0.26258	0.533000	0.62120	AAC	T|0.895;C|0.105		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			C	178762824	T	C	178762824	2	2	38	1	0	0	0	0	0	0	0	1	11670	1722	60	4		4	PDE11A	2	178762824	Silent	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	3499761	178762824	64436549	12	8827											
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	225702542	225702542	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacttggccacaatgtcggtCagaaccctgcaaaagcaaag	9	12	1	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr2:225702542C>G	ENST00000258390.7	-	25	2854	c.2787G>C	c.(2785-2787)ctG>ctC	p.L929L	DOCK10_ENST00000409592.3_Silent_p.L923L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	929					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)		CAATGTCGGTCAGAACCCTGC	0.443																																					p.L929L		.											.	DOCK10-92	0			c.G2787C						.						71	69	70					2																	225702542		1921	4140	6061	SO:0001819	synonymous_variant	55619	exon25			GTCGGTCAGAACC	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.2787G>C	2.37:g.225702542C>G		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	37	24	NM_014689	0	0	0	0	0	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																			.		0.443	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			G	225702542	C	G	225702542	2	3	38	1	0	0	0	0	0	0	0	1	4699	813	29	3		3	DOCK10	2	225702542	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	46939718	225702542	17496831	13	8828											
IL17RC	84818	hgsc.bcm.edu	37	chr3	9975245	9975256	+	In_Frame_Del	DEL	GGCGCGGGACCT	GGCGCGGGACCT	-													cgggacgcggggtgggaccaGgcgcgggacctggggcgggg					rs183956	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	GGCGCGGGACCT	GGCGCGGGACCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:9975245_9975256delGGCGCGGGACCT	ENST00000295981.3	+	19	2562_2573	c.2344_2355delGGCGCGGGACCT	c.(2344-2355)ggcgcgggacctdel	p.GAGP782del	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000413608.1_In_Frame_Del_p.GAGP698del|IL17RC_ENST00000383812.4_In_Frame_Del_p.GAGP696del|IL17RC_ENST00000416074.2_In_Frame_Del_p.GAGP537del|IL17RC_ENST00000455057.1_In_Frame_Del_p.GAGP679del|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000403601.3_In_Frame_Del_p.GAGP711del|CRELD1_ENST00000397170.3_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	782					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTGGGACCAGGCGCGGGACCTGGGGCGGGGG	0.656																																					p.782_785del		.											.	IL17RC-92	0			c.2344_2355del						.																																			SO:0001651	inframe_deletion	84818	exon19			GGACCAGGCGCGG	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.2344_2355delGGCGCGGGACCT	3.37:g.9975245_9975256delGGCGCGGGACCT	ENSP00000295981:p.Gly782_Pro785del	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	16	15	NM_153461	0	0	0	0	0	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	In_Frame_Del	DEL	ENST00000295981.3	37	CCDS2590.1																																																																																			.		0.656	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		-	9975256	GGCGCGGGACCT	-	9975245	7	5	38	1	0	1	0	1	0	0	0	0	7668	1000	35	0	2418	0	IL17RC	3	9975245	In_Frame_Del	DEL	GGCGCGGGACCT	TCGA-OR-A5KW-01A-11D-A29I-10		9975245	188047185	14	8829											
FANCD2	2177	ucsc.edu	37	chr3	10091153	10091153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagttggtagtgttaaaCccatctgctatgatgatgaa	10	6	1	4	rs35652360	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:10091153C>T	ENST00000419585.1	+	17	1670	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	FANCD2_ENST00000287647.3_Silent_p.N503N|FANCD2_ENST00000383806.1_Silent_p.N503N|FANCD2_ENST00000383807.1_Silent_p.N503N			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	503					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAGTGTTAAACCCATCTGCTA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N503N		.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	FANCD2-229	0			c.C1509T						.						237	256	249					3																	10091153		2201	4296	6497	SO:0001819	synonymous_variant	2177	exon17	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GTTAAACCCATCT	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1509C>T	3.37:g.10091153C>T		Somatic	133	28		WXS	Illumina GAIIx	Phase_I	69	54	NM_001018115	0	0	0	1	1	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																			C|0.429;T|0.571		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			T	10091153	C	T	10091153	2	4	38	1	0	0	0	0	0	0	0	1	5687	506	18	3		3	FANCD2	3	10091153	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	115908	10091153	187931277	15	8830											
P4HTM	54681	broad.mit.edu;bcgsc.ca	37	chr3	49044142	49044142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgggtgacgtagacgaCtactcgctgcacgggggctg	18	9	0	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:49044142C>G	ENST00000383729.4	+	9	1682	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.D498E|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	437	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACGTAGACGACTACTCGCTGC	0.612																																					p.D498E		.											.	P4HTM-205	0			c.C1494G						.						46	44	45					3																	49044142		2203	4300	6503	SO:0001583	missense	54681	exon9			AGACGACTACTCG		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1311C>G	3.37:g.49044142C>G	ENSP00000373235:p.Asp437Glu	Somatic	275	0		WXS	Illumina GAIIx	Phase_I	261	9	NM_177938	0	0	123	127	4	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713925	0.15306	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59083	0.29	5.47	1.27	0.21489	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.161867	0.56097	N	0.000035	T	0.21718	0.0523	N	0.01250	-0.93	0.27800	N	0.942513	B;B	0.13145	0.007;0.002	B;B	0.10450	0.003;0.005	T	0.18681	-1.0329	10	0.18710	T	0.47	-31.0769	5.7683	0.18239	0.1242:0.4756:0.3229:0.0773	.	498;437	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	437;498	ENSP00000373235:D437E	ENSP00000341422:D498E	D	+	3	2	P4HTM	49019146	0.450000	0.25697	1.000000	0.80357	0.975000	0.68041	-0.190000	0.09615	0.665000	0.31066	0.650000	0.86243	GAC	.		0.612	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		G	49044142	C	G	49044142	3	3	38	1	0	0	0	0	1	0	0	0	11399	564	20	3	1528	3	P4HTM	3	49044142	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	38952989	49044142	148978288	16	8831											
RBM6	10180	broad.mit.edu	37	chr3	50103899	50103899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcccaataaagaagtTctgatcaaacaccagcagct	6	11	2	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:50103899T>C	ENST00000266022.4	+	17	3166	c.2907T>C	c.(2905-2907)gtT>gtC	p.V969V	RBM6_ENST00000422955.1_Silent_p.V447V|RBM6_ENST00000443081.1_Silent_p.V837V|RBM6_ENST00000539992.1_Silent_p.V311V|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.V447V	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	969					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATAAAGAAGTTCTGATCAAAC	0.473																																					p.V969V		.											.	RBM6-280	0			c.T2907C						.						129	140	136					3																	50103899		2203	4300	6503	SO:0001819	synonymous_variant	10180	exon17			AGAAGTTCTGATC	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2907T>C	3.37:g.50103899T>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_005777	0	0	33	37	4	O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	CCDS2809.1																																																																																			.		0.473	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		C	50103899	T	C	50103899	2	2	38	1	0	0	0	0	0	0	0	1	13189	1770	62	4		4	RBM6	3	50103899	Silent	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	1059757	50103899	147918531	17	8832											
ITIH1	3697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52819196	52819196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggtggccgggcgcaTtgctgacaacaaacagagca	14	9	0	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:52819196T>C	ENST00000273283.2	+	12	1568	c.1544T>C	c.(1543-1545)aTt>aCt	p.I515T	ITIH1_ENST00000542827.1_Missense_Mutation_p.I515T|ITIH1_ENST00000540715.1_Missense_Mutation_p.I373T|ITIH1_ENST00000537050.1_Missense_Mutation_p.I227T|ITIH1_ENST00000405128.3_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	515	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCGGGCGCATTGCTGACAAC	0.572																																					p.I515T		.											.	ITIH1-93	0			c.T1544C						.						134	123	127					3																	52819196		2203	4300	6503	SO:0001583	missense	3697	exon12			GGCGCATTGCTGA		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.1544T>C	3.37:g.52819196T>C	ENSP00000273283:p.Ile515Thr	Somatic	157	1		WXS	Illumina GAIIx	Phase_I	131	117	NM_002215	0	0	0	0	0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291224	0.59976	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	4.88	4.88	0.63580	.	0.311813	0.35615	N	0.003085	T	0.23572	0.0570	M	0.79258	2.445	0.30161	N	0.802155	P;P;P	0.39003	0.654;0.501;0.474	B;B;B	0.41088	0.347;0.058;0.272	T	0.20974	-1.0259	10	0.87932	D	0	-17.1399	14.3166	0.66454	0.0:0.0:0.0:1.0	.	373;116;515	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	T	515;515;373;227;68	ENSP00000442584:I515T;ENSP00000273283:I515T;ENSP00000443973:I373T;ENSP00000443847:I227T;ENSP00000395836:I68T	ENSP00000273283:I515T	I	+	2	0	ITIH1	52794236	0.948000	0.32251	1.000000	0.80357	0.989000	0.77384	7.297000	0.78799	2.068000	0.61886	0.443000	0.29094	ATT	.		0.572	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		C	52819196	T	C	52819196	3	2	38	1	0	0	0	0	1	0	0	0	7930	1493	52	4	1590	4	ITIH1	3	52819196	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	2715297	52819196	145203234	18	8833											
NAALADL2	254827	bcgsc.ca	37	chr3	174951756	174951756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataaaaatgaagatgacaTggaaatttcaaagaagatta	7	2	1	5	rs4371530	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:174951756T>C	ENST00000454872.1	+	3	709	c.581T>C	c.(580-582)aTg>aCg	p.M194T	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	194			M -> T (in dbSNP:rs4371530).			integral component of membrane (GO:0016021)		p.M194T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAGATGACATGGAAATTTCA	0.323													t|||	3199	0.638778	0.5764	0.5749	5008	,	,		17689	0.6181		0.7167	False		,,,				2504	0.7096				p.M194T		.											.	NAALADL2-47	1	Substitution - Missense(1)	stomach(1)	c.T581C						.	C	THR/MET	2295,1373		738,819,277	58	54	55		581	-3.1	0	3	dbSNP_111	55	6004,2176		2211,1582,297	yes	missense	NAALADL2	NM_207015.2	81	2949,2401,574	CC,CT,TT		26.6015,37.4318,29.9544	benign	194/796	174951756	8299,3549	1834	4090	5924	SO:0001583	missense	254827	exon3			ATGACATGGAAAT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.581T>C	3.37:g.174951756T>C	ENSP00000404705:p.Met194Thr	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	72	6	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	1423	0.6515567765567766	295	0.5995934959349594	212	0.585635359116022	376	0.6573426573426573	540	0.712401055408971	C	2.040	-0.420179	0.04734	0.625682	0.733985	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.38560	1.13	5.87	-3.1	0.05315	.	0.852250	0.10159	N	0.708521	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.0	T	0.40979	-0.9534	9	0.87932	D	0	1.6698	11.7373	0.51773	0.0:0.5504:0.0773:0.3723	rs4371530;rs52816374;rs60384769;rs4371530	177;194	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	T	194;1	ENSP00000404705:M194T	ENSP00000314951:M1T	M	+	2	0	NAALADL2	176434450	0.004000	0.15560	0.004000	0.12327	0.593000	0.36681	-1.106000	0.03319	-1.349000	0.02202	-0.990000	0.02549	ATG	T|0.343;C|0.657		0.323	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		C	174951756	T	C	174951756	3	2	38	1	0	0	0	0	1	0	0	0	10168	1464	51	4	591	4	NAALADL2	3	174951756	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	122132560	174951756	23070674	19	8834											
FXR1	8087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	180685937	180685937	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagatgatcgagacagcCgacatcagcgtgacagcagg	14	9	1	5			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr3:180685937C>T	ENST00000357559.4	+	14	1681	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.R420*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R433*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R348*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R384*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R348*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	433					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCGAGACAGCCGACATCAGCG	0.542																																					p.R433X		.											.	FXR1-153	0			c.C1297T						.						120	109	113					3																	180685937		2203	4300	6503	SO:0001587	stop_gained	8087	exon14			GACAGCCGACATC	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1297C>T	3.37:g.180685937C>T	ENSP00000350170:p.Arg433*	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	199	173	NM_001013438	0	0	1	12	11	A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774823	0.90108	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.	.	.	5.51	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0524	15.3593	0.74457	0.3259:0.6741:0.0:0.0	.	.	.	.	X	433;348;384;348;433;420	.	ENSP00000307633:R348X	R	+	1	2	FXR1	182168631	0.991000	0.36638	0.986000	0.45419	0.973000	0.67179	1.389000	0.34453	1.434000	0.47414	0.591000	0.81541	CGA	.		0.542	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			T	180685937	C	T	180685937	4	4	38	1	0	0	0	0	0	1	0	0	6139	644	23	1	1351	1	FXR1	3	180685937	Nonsense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	5734181	180685937	17336493	20	8835											
TNIP2	79155	hgsc.bcm.edu	37	chr4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctgctcccggaagcGcgcaacctgctccagcagcg	12	17	0	0	rs74548850	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5	7	6		217	2.8	1	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_024309	0	0	2	3	1		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		C	2757800	G	C	2757800	3	2	38	1	0	0	0	0	1	0	0	0	16362	1087	38	2	1096	2	TNIP2	4	2757800	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		2757800	188396476	21	8836											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044357	7044357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggctcctcagccccAacctcggccggctcttcggg	14	17	2	0	rs871133	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1		0.9702	False		,,,				2504	1				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3	3	3		309	-4.5	0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	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.309T>C	4.37:g.7044357A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_153376	0	0	0	2	2	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		G	7044357	A	G	7044357	2	3	38	1	0	0	0	0	0	0	0	1	2881	117	5	4		4	CCDC96	4	7044357	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	4286557	7044357	184109919	22	8837											
GPR78	27201	hgsc.bcm.edu	37	chr4	8583231	8583231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcgcagccttcaccgcCacgctccatgccgtgggctt	10	18	1	0	rs61741008	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:8583231C>A	ENST00000382487.4	+	1	939	c.522C>A	c.(520-522)gcC>gcA	p.A174A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	174					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCACCGCCACGCTCCATG	0.697													C|||	24	0.00479233	0	0.0043	5008	,	,		16694	0		0.0189	False		,,,				2504	0.002				p.A174A		.											.	GPR78-516	0			c.C522A						.	C		8,4196		0,8,2094	10	11	10		522	-1	0	4	dbSNP_129	10	97,8169		0,97,4036	no	coding-synonymous	GPR78	NM_080819.2		0,105,6130	AA,AC,CC		1.1735,0.1903,0.842		174/364	8583231	105,12365	2102	4133	6235	SO:0001819	synonymous_variant	27201	exon1			CACCGCCACGCTC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.522C>A	4.37:g.8583231C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			C|0.992;A|0.008		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583231	C	A	8583231	2	1	38	1	0	0	0	0	0	0	0	1	6736	581	21	3		3	GPR78	4	8583231	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	1538874	8583231	182571045	23	8838											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	18	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	38	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	39909203	48492434	142661842	24	8839											
PROL1	58503	broad.mit.edu;bcgsc.ca	37	chr4	71275326	71275326	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttccattggaatctattaGacaacctcgactctttccgg	6	12	2	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:71275326G>T	ENST00000399575.2	+	3	455	c.281G>T	c.(280-282)aGa>aTa	p.R94I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	94	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GAATCTATTAGACAACCTCGA	0.423																																					p.R94I		.											.	PROL1-135	0			c.G281T						.						219	204	209					4																	71275326		1861	4096	5957	SO:0001583	missense	58503	exon3			CTATTAGACAACC	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.281G>T	4.37:g.71275326G>T	ENSP00000382485:p.Arg94Ile	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	217	9	NM_021225	0	0	0	0	0	A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	7.398	0.632078	0.14322	.	.	ENSG00000171199	ENST00000399575	T	0.29142	1.58	1.69	-0.262	0.12958	.	.	.	.	.	T	0.14570	0.0352	N	0.22421	0.69	0.09310	N	1	P	0.34662	0.462	B	0.24974	0.057	T	0.17837	-1.0356	9	0.87932	D	0	.	2.3018	0.04164	0.1942:0.0:0.5107:0.2951	.	94	Q99935	PROL1_HUMAN	I	94	ENSP00000382485:R94I	ENSP00000382485:R94I	R	+	2	0	PROL1	71309915	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.268000	0.08607	-0.113000	0.11958	0.591000	0.81541	AGA	.		0.423	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		T	71275326	G	T	71275326	3	4	38	1	0	0	0	0	1	0	0	0	12596	942	33	3	287	3	PROL1	4	71275326	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	22782892	71275326	119878950	25	8840											
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537213	+	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-													agtgaaagcagtgatagcagTgacagcagcaatagcagtga					rs529175881|rs563891927|rs151217478|rs201186956|rs201078954|rs551655835|rs199799532|rs201754564|rs376726974|rs551176886|rs536124533|rs374679002|rs367717407|rs531156875|rs370267258|rs200796238|rs200745922|rs373236680|rs373805744|rs553101049|rs372453629|rs201399566|rs553323131|rs199671813|rs534854783|rs143067236|rs376515601|rs369973717|rs368984442|rs200276196	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENST00000282478.7	+	4	3297_3432	c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	c.(3262-3399)agtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtfs	p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs	DSPP_ENST00000399271.1_Frame_Shift_Del_p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtgatagcagtg	0.554																																					p.1088_1133del		.											.	DSPP-90	0			c.3264_3399del						.																																			SO:0001589	frameshift_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	4.37:g.88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENSP00000282478:p.Ser1088fs	Somatic	354	0		WXS	Illumina GAIIx	Phase_I	488	0	NM_014208	0	0	0	0	0	A8MUI0|O95815	Frame_Shift_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.554	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537213	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	88537078	7	5	38	1	0	1	0	1	0	0	0	0	4796	1693	59	0	3278	0	DSPP	4	88537078	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TCGA-OR-A5KW-01A-11D-A29I-10	17261752	88537078	102617198	26	8841	79	2									
DSPP	1834	ucsc.edu	37	chr4	88537081	88537081	+	Silent	SNP	C	C	T													gaaagcagtgatagcagtgaCagcagcaatagcagtgacag					rs367717407|rs370267258	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	DSPP_ENST00000399271.1_Silent_p.D1089D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		.											.	DSPP-90	0			c.C3267T						.	C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		Somatic	332	2		WXS	Illumina GAIIx	Phase_I	427	144	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	38	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537081	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	3	88537081	102617195	27	8842	79	2									
MAML3	55534	broad.mit.edu	37	chr4	141074334	141074334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgcatccaccggctgCcgggtgattgctactcggag	14	15	0	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr4:141074334C>T	ENST00000509479.2	-	1	1004	c.148G>A	c.(148-150)Gca>Aca	p.A50T		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)					CCACCGGCTGCCGGGTGATTG	0.677																																					p.A50T		.											.	MAML3-455	0			c.G148A						.						2	3	3					4																	141074334		1611	3558	5169	SO:0001583	missense	55534	exon1			CGGCTGCCGGGTG	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.148G>A	4.37:g.141074334C>T	ENSP00000421180:p.Ala50Thr	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	46	4	NM_018717	0	0	0	0	0		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305167	0.40795	.	.	ENSG00000196782	ENST00000509479	T	0.23754	1.89	3.94	3.07	0.35406	.	.	.	.	.	T	0.13798	0.0334	N	0.08118	0	0.80722	D	1	B;B	0.23377	0.084;0.084	B;B	0.18263	0.021;0.021	T	0.06499	-1.0823	9	0.62326	D	0.03	.	11.4637	0.50225	0.182:0.818:0.0:0.0	.	50;50	E7EVW8;Q96JK9	.;MAML3_HUMAN	T	50	ENSP00000421180:A50T	ENSP00000421180:A50T	A	-	1	0	MAML3	141293784	0.741000	0.28217	0.998000	0.56505	0.947000	0.59692	0.000000	0.12993	0.594000	0.29761	0.485000	0.47835	GCA	.		0.677	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			T	141074334	C	T	141074334	3	4	38	1	0	0	0	0	1	0	0	0	9245	739	26	3	3280	3	MAML3	4	141074334	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	52537253	141074334	50079942	28	8843											
HEXB	3074	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr5	73981246	73981246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctcggccaagccggggcCggcgctgtggcccctgccgc	16	18	1	0			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr5:73981246C>T	ENST00000261416.7	+	1	278	c.161C>T	c.(160-162)cCg>cTg	p.P54L	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	54					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AAGCCGGGGCCGGCGCTGTGG	0.692																																					p.P54L	Melanoma(66;841 1270 13391 18706 27225)	.											.	HEXB-91	0			c.C161T						.						6	9	8					5																	73981246		2130	4191	6321	SO:0001583	missense	3074	exon1			CGGGGCCGGCGCT	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.161C>T	5.37:g.73981246C>T	ENSP00000261416:p.Pro54Leu	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	42	19	NM_000521	0	0	24	32	8		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855839	0.32791	.	.	ENSG00000049860	ENST00000261416	D	0.96685	-4.09	4.13	-3.32	0.04973	.	1.231350	0.05546	N	0.566692	D	0.88317	0.6404	N	0.08118	0	0.09310	N	0.999994	B	0.17667	0.023	B	0.08055	0.003	T	0.78932	-0.2009	10	0.45353	T	0.12	0.0049	3.8422	0.08918	0.289:0.4564:0.0:0.2546	.	54	P07686	HEXB_HUMAN	L	54	ENSP00000261416:P54L	ENSP00000261416:P54L	P	+	2	0	HEXB	74017002	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.379000	0.02554	-0.555000	0.06142	-0.258000	0.10820	CCG	.		0.692	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		T	73981246	C	T	73981246	3	4	38	1	0	0	0	0	1	0	0	0	7101	652	23	1	163	1	HEXB	5	73981246	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10		73981246	106934014	29	8844											
DUSP1	1843	hgsc.bcm.edu	37	chr5	172197790	172197790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccatggcgcccttggCccggcgccgcacgatggtgc	15	17	0	0	rs34013988	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr5:172197790C>T	ENST00000239223.3	-	1	408	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	56	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.		A -> T (in dbSNP:rs34013988). {ECO:0000269|Ref.3}.		cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCGCCCTTGGCCCGGCGCCGC	0.701													C|||	59	0.0117812	0	0.0115	5008	,	,		11210	0.001		0.0427	False		,,,				2504	0.0072				p.A56T		.											.	DUSP1-659	0			c.G166A						.	C	THR/ALA	16,3446		0,16,1715	2	3	3		166	4.9	1	5	dbSNP_126	3	138,6720		0,138,3291	yes	missense	DUSP1	NM_004417.3	58	0,154,5006	TT,TC,CC		2.0122,0.4622,1.4922	benign	56/368	172197790	154,10166	1731	3429	5160	SO:0001583	missense	1843	exon1			CCTTGGCCCGGCG	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.166G>A	5.37:g.172197790C>T	ENSP00000239223:p.Ala56Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	10	NM_004417	0	0	31	46	15	D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	CCDS4380.1	53	0.024267399267399268	5	0.01016260162601626	3	0.008287292817679558	1	0.0017482517482517483	44	0.05804749340369393	C	29.0	4.971475	0.92919	0.004622	0.020122	ENSG00000120129	ENST00000239223;ENST00000457103	T	0.39997	1.05	4.91	4.91	0.64330	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	M	0.85710	2.77	0.80722	D	1	B	0.18013	0.025	B	0.26416	0.069	T	0.41161	-0.9524	10	0.49607	T	0.09	.	18.1069	0.89523	0.0:1.0:0.0:0.0	rs34013988	56	P28562	DUS1_HUMAN	T	56	ENSP00000239223:A56T	ENSP00000239223:A56T	A	-	1	0	DUSP1	172130396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.586000	0.67503	2.253000	0.74438	0.491000	0.48974	GCC	C|0.976;T|0.024		0.701	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		T	172197790	C	T	172197790	3	4	38	1	0	0	0	0	1	0	0	0	4823	739	26	3	953	3	DUSP1	5	172197790	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	98216544	172197790	8717470	30	8845											
MUTED	63915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	8041503	8041503	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagaccacgtttttccTattaaaagaaagtagatgac	7	8	0	4			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:8041503T>A	ENST00000397457.2	-	3	233		c.e3-2		EEF1E1-BLOC1S5_ENST00000397456.2_Splice_Site|BLOC1S5_ENST00000543936.1_Splice_Site|BLOC1S5-TXNDC5_ENST00000439343.2_Splice_Site	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											ACGTTTTTCCTATTAAAAGAA	0.358																																					.		.											.	.	0			c.4-2A>T						.						79	77	78					6																	8041503		2203	4300	6503	SO:0001630	splice_region_variant	63915	exon5			TTTTCCTATTAAA	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"Biogenesis of lysosomal organelles complex-1 subunits"	18561	protein-coding gene	gene with protein product		607289	"muted homolog (mouse)"	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.196-2A>T	6.37:g.8041503T>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	32	21	NM_001199322	0	0	0	0	0	B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Splice_Site	SNP	ENST00000397457.2	37	CCDS4506.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.691036	0.68271	.	.	ENSG00000188428	ENST00000397457;ENST00000543936	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4108	0.74917	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUTED	7986502	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.116000	0.64661	2.126000	0.65437	0.482000	0.46254	.	.		0.358	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2	NM_201280	Intron	A	8041503	T	A	8041503	5	1	38	1	0	0	0	0	0	0	1	0	10030	1536	53	5	381	5	MUTED	6	8041503	Splice_Site	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10		8041503	163073564	31	8846											
RNF39	80352	hgsc.bcm.edu	37	chr6	30039364	30039364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgaagcgcttggggcCgtcagggggcgcgggcgtcc	19	12	1	1	rs11753382	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:30039364C>A	ENST00000244360.6	-	4	884	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	RNF39_ENST00000376751.3_Missense_Mutation_p.G263C	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	263	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CGCTTGGGGCCGTCAGGGGGC	0.741													c|||	749	0.149561	0.2489	0.134	5008	,	,		10967	0.1528		0.0447	False		,,,				2504	0.1309				p.G263C	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.G787T						.		CYS/GLY,CYS/GLY	414,2026		21,372,827	3	2	2		787,787	0.5	0.1	6	dbSNP_120	2	229,4029		6,217,1906	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	159,159	27,589,2733	AA,AC,CC		5.3781,16.9672,9.5999	benign,benign	263/421,263/355	30039364	643,6055	1220	2129	3349	SO:0001583	missense	80352	exon4			TGGGGCCGTCAGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.787G>T	6.37:g.30039364C>A	ENSP00000244360:p.Gly263Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_025236	0	0	0	0	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	299	0.13690476190476192	120	0.24390243902439024	56	0.15469613259668508	90	0.15734265734265734	33	0.04353562005277045	c	11.55	1.672102	0.29693	0.169672	0.053781	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10382	2.88;2.88	4.7	0.543	0.17179	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.296117	0.23738	N	0.045041	T	0.03348	0.0097	N	0.19112	0.55	0.48696	P	3.009999999999957E-4	B;P	0.48407	0.06;0.91	B;P	0.47626	0.092;0.552	T	0.41305	-0.9516	9	0.56958	D	0.05	-19.3451	7.7639	0.28968	0.0:0.4441:0.0:0.5559	rs11753382	263;263	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	C	263	ENSP00000365942:G263C;ENSP00000244360:G263C	ENSP00000244360:G263C	G	-	1	0	RNF39	30147343	0.003000	0.15002	0.059000	0.19551	0.050000	0.14768	0.158000	0.16422	-0.104000	0.12154	0.466000	0.42574	GGC	C|0.862;A|0.138		0.741	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		A	30039364	C	A	30039364	3	1	38	1	0	0	0	0	1	0	0	0	13536	652	23	2	479	2	RNF39	6	30039364	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	21997861	30039364	141075703	32	8847											
HLA-B	3106	bcgsc.ca	37	chr6	31324643	31324643	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgaacctcacgaactgGgtgtcgtccacgtagcccac	10	15	1	0	rs1050517	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:31324643G>C	ENST00000412585.2	-	2	193	c.165C>G	c.(163-165)acC>acG	p.T55T		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	55	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGAACTGGGTGTCGTCCA	0.672									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	1882	0.375799	0.3283	0.4323	5008	,	,		9531	0.3631		0.4732	False		,,,				2504	0.3129				p.T55T		.											.	HLA-B-90	0			c.C165G						.	C		1189,3113		329,531,1291	38	30	33	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	165	1.4	1	6	dbSNP_86	33	3132,5168		1013,1106,2031	no	coding-synonymous	HLA-B	NM_005514.6		1342,1637,3322	CC,CG,GG		37.7349,27.6383,34.2882		55/363	31324643	4321,8281	2151	4150	6301	SO:0001819	synonymous_variant	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	GAACTGGGTGTCG	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.165C>G	6.37:g.31324643G>C		Somatic	64	2		WXS	Illumina GAIIx	Phase_I	31	11	NM_005514	0	0	27	27	0	Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																			G|0.419;C|0.581		0.672	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		C	31324643	G	C	31324643	2	2	38	1	0	0	0	0	0	0	0	1	7223	1219	43	3		3	HLA-B	6	31324643	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	1285279	31324643	139790424	33	8848											
MICA	100507436	bcgsc.ca	37	chr6	31378977	31378977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagactgaggaatggacaGtgccccagtcctccagagct	13	11	0	3	rs1051792	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:31378977G>A	ENST00000449934.2	+	3	508	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAATGGACAGTGCCCCAGTC	0.517													g|||	1827	0.364816	0.4788	0.4078	5008	,	,		20742	0.3006		0.3141	False		,,,				2504	0.2986				p.V152M		.											.	.	0			c.G454A						.	G	MET/VAL	580,804		132,316,244	100	85	89		454	-0.6	0	6	dbSNP_86	89	919,2263		126,667,798	no	missense	MICA	NM_001177519.1	21	258,983,1042	AA,AG,GG		28.8812,41.9075,32.8296	probably-damaging	152/333	31378977	1499,3067	692	1591	2283	SO:0001583	missense	100507436	exon3			TGGACAGTGCCCC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.454G>A	6.37:g.31378977G>A	ENSP00000413079:p.Val152Met	Somatic	218	3		WXS	Illumina GAIIx	Phase_I	206	9	NM_001177519	0	0	50	50	0		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	800|800	0.3663003663003663|0.3663003663003663	228|228	0.4634146341463415|0.4634146341463415	169|169	0.46685082872928174|0.46685082872928174	160|160	0.27972027972027974|0.27972027972027974	243|243	0.32058047493403696|0.32058047493403696	.|N	0.869|0.869	-0.732690|-0.732690	0.03135|0.03135	0.419075|0.419075	0.288812|0.288812	ENSG00000204520|ENSG00000204520	ENST00000399172|ENST00000364810;ENST00000449934	.|T	.|0.00730	.|5.77	1.41|1.41	-0.635|-0.635	0.11512|0.11512	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00440	.|0.0014	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|D	.|0.53462	.|0.96	.|P	.|0.51550	.|0.673	.|T	.|0.51841	.|-0.8654	.|7	.|0.40728	.|T	.|0.16	.|.	2.6169|2.6169	0.04906|0.04906	0.3636:0.2644:0.372:0.0|0.3636:0.2644:0.372:0.0	rs1051792;rs3192169;rs3819270;rs16897487;rs17845518;rs17858408;rs17885687;rs1051792|rs1051792;rs3192169;rs3819270;rs16897487;rs17845518;rs17858408;rs17885687;rs1051792	.|152	.|Q96QC4	.|.	.|M	-1|152	.|ENSP00000413079:V152M	.|ENSP00000365394:V152M	.|V	+|+	.|1	.|0	MICA|MICA	31486956|31486956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.136000|0.136000	0.15974|0.15974	-0.189000|-0.189000	0.10482|0.10482	-0.667000|-0.667000	0.03836|0.03836	.|GTG	G|0.653;A|0.347		0.517	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		A	31378977	G	A	31378977	3	1	38	1	0	0	0	0	1	0	0	0	9606	1029	36	3	464	3	MICA	6	31378977	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	54334	31378977	139736090	34	8849											
HLA-DQB1	3119	bcgsc.ca	37	chr6	32628022	32628022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaggagtcagtgcagAagccctggagaagagagaag	15	7	2	4	rs1140347	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:32628022A>G	ENST00000399082.3	-	3	440	c.396T>C	c.(394-396)ctT>ctC	p.L132L	HLA-DQB1_ENST00000434651.2_Silent_p.L259L|HLA-DQB1_ENST00000460185.1_5'UTR|HLA-DQB1_ENST00000399084.1_Silent_p.L259L|HLA-DQB1_ENST00000374943.4_Silent_p.L267L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399079.3_Silent_p.L222L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	0	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GTCAGTGCAGAAGCCCTGGAG	0.542									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.L267L	Esophageal Squamous(151;720 1825 15000 40336 43415)	.											.	HLA-DQB1-22	0			c.T801C						.						67	62	64					6																	32628022		1986	4056	6042	SO:0001819	synonymous_variant	3119	exon6	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	GTGCAGAAGCCCT		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.396T>C	6.37:g.32628022A>G		Somatic	142	2		WXS	Illumina GAIIx	Phase_I	19	6	NM_001243961	0	0	1	1	0	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																				A|0.440;G|0.560		0.542	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		G	32628022	A	G	32628022	2	3	38	1	0	0	0	0	0	0	0	1	7233	233	9	4		4	HLA-DQB1	6	32628022	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	1249045	32628022	138487045	35	8850											
PNPLA1	285848	bcgsc.ca	37	chr6	36269725	36269725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactcgcccttggcaatgAgtgccctgaacgcagtcaac	10	13	1	3	rs34598813	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:36269725A>G	ENST00000394571.2	+	6	863	c.863A>G	c.(862-864)gAg>gGg	p.E288G	PNPLA1_ENST00000388715.3_Missense_Mutation_p.E193G|PNPLA1_ENST00000312917.5_Missense_Mutation_p.E202G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	288					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTTGGCAATGAGTGCCCTGAA	0.522											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	393	0.0784744	0.1331	0.0346	5008	,	,		20119	0.0813		0.0437	False		,,,				2504	0.0685				p.E288G		.											.	PNPLA1-137	0			c.A863G						.	A	GLY/GLU,GLY/GLU,GLY/GLU	534,3872	242.1+/-252.3	37,460,1706	82	80	81		605,863,578	3	0	6	dbSNP_126	81	509,8091	144.8+/-200.6	14,481,3805	yes	missense,missense,missense	PNPLA1	NM_001145716.1,NM_001145717.1,NM_173676.2	98,98,98	51,941,5511	GG,GA,AA		5.9186,12.1198,8.0194	possibly-damaging,possibly-damaging,possibly-damaging	202/447,288/533,193/438	36269725	1043,11963	2203	4300	6503	SO:0001583	missense	285848	exon6			GCAATGAGTGCCC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.863A>G	6.37:g.36269725A>G	ENSP00000378072:p.Glu288Gly	Somatic	116	0	861	WXS	Illumina GAIIx	Phase_I	92	6	NM_001145717	0	0	2	2	0	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	155	0.07097069597069597	61	0.12398373983739837	14	0.03867403314917127	44	0.07692307692307693	36	0.047493403693931395	A	16.86	3.238826	0.58995	0.121198	0.059186	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.37752	1.45;1.45;1.18;1.19	5.54	3.02	0.34903	.	0.626222	0.14117	N	0.340328	T	0.20700	0.0498	L	0.34521	1.04	0.80722	P	0.0	P;P	0.49559	0.734;0.925	B;P	0.49752	0.254;0.621	T	0.03278	-1.1053	9	0.66056	D	0.02	-16.6995	9.6897	0.40120	0.6609:0.3391:0.0:0.0	rs34598813	288;202	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	G	193;202;289;288	ENSP00000373367:E193G;ENSP00000321116:E202G;ENSP00000391868:E289G;ENSP00000378072:E288G	ENSP00000321116:E202G	E	+	2	0	PNPLA1	36377703	0.006000	0.16342	0.015000	0.15790	0.449000	0.32228	1.272000	0.33109	0.336000	0.23639	0.533000	0.62120	GAG	A|0.923;G|0.077		0.522	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		G	36269725	A	G	36269725	3	3	38	1	0	0	0	0	1	0	0	0	12203	304	11	4	912	4	PNPLA1	6	36269725	Missense_Mutation	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	3641703	36269725	134845342	36	8851											
OSTM1	28962	broad.mit.edu	37	chr6	108395512	108395512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgttggaagagggggtagCaggtctgacagaggcgcacg	18	8	1	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:108395512C>A	ENST00000193322.3	-	1	429	c.344G>T	c.(343-345)tGc>tTc	p.C115F		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	115					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GAGGGGGTAGCAGGTCTGACA	0.657																																					p.C115F	Melanoma(162;1427 1909 3096 17430 21396)	.											.	OSTM1-68	0			c.G344T						.						22	25	24					6																	108395512		2203	4300	6503	SO:0001583	missense	28962	exon1			GGGTAGCAGGTCT	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"CLCN7 accessory beta subunit"	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.344G>T	6.37:g.108395512C>A	ENSP00000193322:p.Cys115Phe	Somatic	59	1		WXS	Illumina GAIIx	Phase_I	101	9	NM_014028	0	0	10	10	0	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744956	0.89663	.	.	ENSG00000081087	ENST00000193322	D	0.82344	-1.6	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91325	0.5085	10	0.87932	D	0	-12.5225	16.7097	0.85382	0.0:1.0:0.0:0.0	.	115	Q86WC4	OSTM1_HUMAN	F	115	ENSP00000193322:C115F	ENSP00000193322:C115F	C	-	2	0	OSTM1	108502205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.592000	0.61027	2.480000	0.83734	0.655000	0.94253	TGC	.		0.657	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		A	108395512	C	A	108395512	3	1	38	1	0	0	0	0	1	0	0	0	11337	710	25	3	684	3	OSTM1	6	108395512	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	72125787	108395512	62719555	37	8852											
SMOC2	64094	hgsc.bcm.edu	37	chr6	168842113	168842113	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgccggtgcccgcTcagaagttctcggcgctcac	11	18	3	1	rs73270928	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2	3	3		63,63	-0.4	1	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168842113	T	G	168842113	2	3	38	1	0	0	0	0	0	0	0	1	14847	1538	54	5		5	SMOC2	6	168842113	Silent	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	60446601	168842113	2272954	38	8853											
KIAA0415	9907	broad.mit.edu	37	chr7	4827402	4827402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcggtgctggacctgcaGctcaggtgggcccctcaccc	14	16	2	0			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:4827402G>T	ENST00000348624.4	+	11	1543	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	AP5Z1_ENST00000401897.1_Missense_Mutation_p.Q483H|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	483					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGACCTGCAGCTCAGGTGGG	0.706																																					p.Q483H		.											.	.	0			c.G1449T						.						14	18	17					7																	4827402		1984	3947	5931	SO:0001583	missense	9907	exon11			CCTGCAGCTCAGG	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1449G>T	7.37:g.4827402G>T	ENSP00000297562:p.Gln483His	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	117	11	NM_014855	0	0	0	0	0	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854221	0.32791	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.48836	0.81;0.8	4.73	2.77	0.32553	.	0.129357	0.52532	D	0.000063	T	0.45518	0.1346	M	0.82323	2.585	0.48135	D	0.999592	B	0.25609	0.13	B	0.21708	0.036	T	0.49943	-0.8885	10	0.56958	D	0.05	.	4.7521	0.13066	0.0852:0.1506:0.609:0.1552	.	483	O43299	K0415_HUMAN	H	483	ENSP00000297562:Q483H;ENSP00000384980:Q483H	ENSP00000297562:Q483H	Q	+	3	2	KIAA0415	4793928	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.161000	0.42358	1.108000	0.41662	0.549000	0.68633	CAG	.		0.706	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4827402	G	T	4827402	3	4	38	1	0	0	0	0	1	0	0	0	8202	962	34	3	1491	3	KIAA0415	7	4827402	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		4827402	154311261	39	8854											
AVL9	23080	broad.mit.edu	37	chr7	32535342	32535343	+	Frame_Shift_Ins	INS	-	-	G													tggagaaggccaggagaggcINSggggatggcgtcccccgggg							TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:32535342_32535343insG	ENST00000318709.4	+	1	242_243	c.21_22insG	c.(22-24)gggfs	p.G8fs	AVL9_ENST00000459629.1_3'UTR|AVL9_ENST00000409301.1_Frame_Shift_Ins_p.G8fs|AVL9_ENST00000404479.1_Frame_Shift_Ins_p.G8fs|LSM5_ENST00000409952.3_5'Flank|LSM5_ENST00000409909.3_5'Flank	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	8					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCAGGAGAGGCGGGGATGGCGT	0.718																																					p.G7fs		.											.	AVL9-90	0			c.21_22insG						.			54,3176		7,40,1568						-1.4	0			11	106,6304		12,82,3111	no	frameshift	AVL9	NM_015060.1		19,122,4679	A1A1,A1R,RR		1.6537,1.6718,1.6598				160,9480				SO:0001589	frameshift_variant	23080	exon1			GAGAGGCGGGGAT	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.25dupG	7.37:g.32535346_32535346dupG	ENSP00000315568:p.Gly8fs	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	192	7	NM_015060	0	0	0	0	0	Q92573	Frame_Shift_Ins	INS	ENST00000318709.4	37	CCDS34613.1																																																																																			.		0.718	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		G	32535343	-	G	32535342	7	5	38	1	0	1	1	0	0	0	0	0	1229	755	27	0	23	0	AVL9	7	32535342	Frame_Shift_Ins	INS	-	TCGA-OR-A5KW-01A-11D-A29I-10	27707940	32535342	126603321	40	8855											
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	53103984	53103984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacagcaagggtggcaGgcggaacctgcagccccggc	15	14	1	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:53103984G>A	ENST00000408890.4	+	1	636	c.620G>A	c.(619-621)aGg>aAg	p.R207K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	207										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AAGGGTGGCAGGCGGAACCTG	0.662																																					p.R207K		.											.	.	0			c.G620A						.						47	57	53					7																	53103984		1990	4134	6124	SO:0001583	missense	285877	exon1			GTGGCAGGCGGAA		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.620G>A	7.37:g.53103984G>A	ENSP00000386133:p.Arg207Lys	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	127	56	NM_182595	0	0	0	0	0	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064056	0.20067	.	.	ENSG00000221900	ENST00000408890	T	0.12361	2.69	1.84	-0.111	0.13576	.	.	.	.	.	T	0.09730	0.0239	L	0.38175	1.15	0.09310	N	1	B	0.24920	0.114	B	0.25405	0.06	T	0.33777	-0.9855	9	0.44086	T	0.13	.	4.0789	0.09917	0.0:0.2656:0.4629:0.2714	.	207	Q8N7R1	P1L12_HUMAN	K	207	ENSP00000386133:R207K	ENSP00000386133:R207K	R	+	2	0	POM121L12	53071478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.323000	0.07997	-0.047000	0.13423	-0.218000	0.12543	AGG	.		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103984	G	A	53103984	3	1	38	1	0	0	0	0	1	0	0	0	12280	1000	35	3	622	3	POM121L12	7	53103984	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	20568642	53103984	106034679	41	8856											
MLXIPL	51085	hgsc.bcm.edu;broad.mit.edu	37	chr7	73011760	73011760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggtgggaaggctgcaGgagcaggcagcggagacact	21	7	0	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:73011760G>T	ENST00000313375.3	-	9	1402	c.1355C>A	c.(1354-1356)cCt>cAt	p.P452H	MLXIPL_ENST00000395189.1_Missense_Mutation_p.P359H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P452H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P452H|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P359H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P452H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	452					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)				GAAGGCTGCAGGAGCAGGCAG	0.647																																					p.P452H		.											.	MLXIPL-91	0			c.C1355A						.						27	19	22					7																	73011760		1986	3971	5957	SO:0001583	missense	51085	exon9			GCTGCAGGAGCAG	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.1355C>A	7.37:g.73011760G>T	ENSP00000320886:p.Pro452His	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	27	6	NM_032954	0	0	6	14	8	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	9.524	1.108995	0.20714	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.23754	2.52;2.51;2.51;2.52;1.9;1.89	4.01	3.04	0.35103	.	1.037060	0.07628	N	0.928189	T	0.37265	0.0997	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999;0.999	P;P;P;D;D;D	0.64237	0.907;0.865;0.839;0.923;0.923;0.923	T	0.33929	-0.9849	10	0.72032	D	0.01	-11.6666	11.0658	0.47974	0.0:0.1904:0.8096:0.0	.	359;359;452;452;452;452	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	H	452;452;452;452;359;359	ENSP00000412330:P452H;ENSP00000406296:P452H;ENSP00000320886:P452H;ENSP00000346629:P452H;ENSP00000378616:P359H;ENSP00000392636:P359H	ENSP00000320886:P452H	P	-	2	0	MLXIPL	72649696	0.484000	0.25964	0.431000	0.26735	0.151000	0.21798	3.987000	0.56944	1.970000	0.57323	0.423000	0.28283	CCT	.		0.647	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		T	73011760	G	T	73011760	3	4	38	1	0	0	0	0	1	0	0	0	9675	1000	35	3	1239	3	MLXIPL	7	73011760	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	19907776	73011760	86126903	42	8857											
MBLAC1	255374	hgsc.bcm.edu	37	chr7	99725210	99725210	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caccgagagtccccgcgcggGagtggcggcgcagaggccgc	18	15	0	2	rs142426754	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:99725210G>T	ENST00000398075.2	+	2	591	c.192G>T	c.(190-192)ggG>ggT	p.G64G	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	64							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CCCCGCGCGGGAGTGGCGGCG	0.786													G|||	71	0.0141773	0.0023	0.0259	5008	,	,		10477	0.004		0.0388	False		,,,				2504	0.0072				p.G64G		.											.	MBLAC1-135	0			c.G192T						.	G		29,3009		0,29,1490	4	4	4		192	3.7	0	7	dbSNP_134	4	266,6806		2,262,3272	no	coding-synonymous	MBLAC1	NM_203397.1		2,291,4762	TT,TG,GG		3.7613,0.9546,2.9179		64/267	99725210	295,9815	1519	3536	5055	SO:0001819	synonymous_variant	255374	exon2			GCGCGGGAGTGGC	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.192G>T	7.37:g.99725210G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_203397	0	0	0	1	1	Q8N5X8	Silent	SNP	ENST00000398075.2	37	CCDS43620.1																																																																																			G|0.976;T|0.024		0.786	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		T	99725210	G	T	99725210	2	4	38	1	0	0	0	0	0	0	0	1	9389	1161	41	3		3	MBLAC1	7	99725210	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	26713450	99725210	59413453	43	8858											
FLNC	2318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128496863	128496863	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgatgtcaagttcaaCggtgcccacatccctggaag	9	13	2	0			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:128496863C>G	ENST00000325888.8	+	45	7710	c.7449C>G	c.(7447-7449)aaC>aaG	p.N2483K	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.N2450K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2483	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)	p.N2483N(2)		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						TCAAGTTCAACGGTGCCCACA	0.597																																					p.N2483K		.											.	FLNC-141	2	Substitution - coding silent(2)	lung(1)|breast(1)	c.C7449G						.						97	101	100					7																	128496863		2198	4296	6494	SO:0001583	missense	2318	exon45			GTTCAACGGTGCC	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.7449C>G	7.37:g.128496863C>G	ENSP00000327145:p.Asn2483Lys	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	303	123	NM_001458	0	0	1	1	0	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689631	0.48097	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84370	-1.84;-1.84	5.52	-7.78	0.01223	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89612	0.6765	M	0.66297	2.02	0.30829	N	0.736966	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.996	D	0.88719	0.3228	10	0.87932	D	0	.	20.1034	0.97882	0.0:0.7219:0.0:0.2781	.	2450;2483	Q14315-2;Q14315	.;FLNC_HUMAN	K	2483;2450	ENSP00000327145:N2483K;ENSP00000344002:N2450K	ENSP00000327145:N2483K	N	+	3	2	FLNC	128284099	0.000000	0.05858	0.268000	0.24571	0.732000	0.41865	-5.880000	0.00093	-2.239000	0.00711	-3.299000	0.00046	AAC	.		0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			G	128496863	C	G	128496863	3	3	38	1	0	0	0	0	1	0	0	0	5957	535	19	2	7627	2	FLNC	7	128496863	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	28771653	128496863	30641800	44	8859											
KEL	3792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142651025	142651025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgcaagcaggacaaccagtCgatggcgggggccatttcct	13	11	0	0	rs374530605	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr7:142651025C>A	ENST00000355265.2	-	9	1417	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GACAACCAGTCGATGGCGGGG	0.522																																					p.D315Y		.											.	KEL-93	0			c.G943T						.						94	90	91					7																	142651025		2203	4300	6503	SO:0001583	missense	3792	exon9			ACCAGTCGATGGC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.943G>T	7.37:g.142651025C>A	ENSP00000347409:p.Asp315Tyr	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	114	50	NM_000420	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267790	0.80469	.	.	ENSG00000197993	ENST00000355265	D	0.84944	-1.92	5.9	5.9	0.94986	Peptidase M13 (1);	0.188743	0.36893	N	0.002358	D	0.92237	0.7538	M	0.79475	2.455	0.46774	D	0.99919	D	0.89917	1.0	D	0.91635	0.999	D	0.92595	0.6086	10	0.87932	D	0	-17.8437	15.8327	0.78769	0.0:1.0:0.0:0.0	.	315	P23276	KELL_HUMAN	Y	315	ENSP00000347409:D315Y	ENSP00000347409:D315Y	D	-	1	0	KEL	142361147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.945000	0.49043	2.817000	0.96982	0.478000	0.44815	GAC	.		0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142651025	C	A	142651025	3	1	38	1	0	0	0	0	1	0	0	0	8169	884	31	2	1299	2	KEL	7	142651025	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	14154162	142651025	16487638	45	8860											
BHLHE22	27319	hgsc.bcm.edu	37	chr8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcctcgtcgccccTgggctgcttcgagccggctg	12	18	0	0	rs62519835	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4	5	4		185	2	1	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		A	65493532	T	A	65493532	3	1	38	1	0	0	0	0	1	0	0	0	1423	1580	55	5	187	5	BHLHE22	8	65493532	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10		65493532	80870490	46	8861											
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	81399960	81399962	+	In_Frame_Del	DEL	CCT	CCT	-													acccgcaactacaagaaaacCctcctcctgaggcaccacgt					rs368014947		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	CCT	CCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:81399960_81399962delCCT	ENST00000430430.1	+	2	1694_1696	c.915_917delCCT	c.(913-918)accctc>acc	p.L308del	ZBTB10_ENST00000455036.3_In_Frame_Del_p.L308del|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000426744.2_In_Frame_Del_p.L308del|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACAAGAAAACCCTCCTCCTGAGG	0.557																																					p.305_306del		.											.	ZBTB10-522	0			c.915_917del						.																																			SO:0001651	inframe_deletion	65986	exon1			GAAAACCCTCCTC	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.915_917delCCT	8.37:g.81399966_81399968delCCT	ENSP00000387462:p.Leu308del	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	68	33	NM_023929	0	0	0	0	0	A4FVD0|Q86W96|Q8IXI9|Q96MH9	In_Frame_Del	DEL	ENST00000430430.1	37	CCDS47880.1																																																																																			.		0.557	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		-	81399962	CCT	-	81399960	7	5	38	1	0	1	0	1	0	0	0	0	17571	610	22	0	917	0	ZBTB10	8	81399960	In_Frame_Del	DEL	CCT	TCGA-OR-A5KW-01A-11D-A29I-10	15906428	81399960	64964062	47	8862											
EPPK1	83481	bcgsc.ca	37	chr8	144940450	144940450	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgatgaggtccttctgcatGgcctggaagagggagatctg	15	8	2	3	rs56258403		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:144940450G>C	ENST00000525985.1	-	2	7043	c.6972C>G	c.(6970-6972)gcC>gcG	p.A2324A				P58107	EPIPL_HUMAN	epiplakin 1	2324						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)			CCTTCTGCATGGCCTGGAAGA	0.697																																					p.A2324A		.											.	EPPK1-25	0			c.C6972G						.						198	193	195					8																	144940450		2181	4258	6439	SO:0001819	synonymous_variant	83481	exon1			CTGCATGGCCTGG	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.6972C>G	8.37:g.144940450G>C		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	427	18	NM_031308	0	0	1	1	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		C	144940450	G	C	144940450	2	2	38	1	0	0	0	0	0	0	0	1	5206	1335	47	3		3	EPPK1	8	144940450	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	63540490	144940450	1423572	48	8863											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990528	144990528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggtgcgggagccAgcggtagagccggagccgct	19	13	0	1	rs7014582	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000345136.3_Silent_p.A4487A|PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000356346.3_Silent_p.A4473A|PLEC_ENST00000354589.3_Silent_p.A4487A|PLEC_ENST00000398774.2_Silent_p.A4455A|PLEC_ENST00000436759.2_Silent_p.A4514A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12	16	15		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	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.13872T>C	8.37:g.144990528A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	10	NM_201380	0	0	30	50	20	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144990528	A	G	144990528	2	3	38	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144990528	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	50078	144990528	1373494	49	8864											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990784	144990784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggcacgcggcccggcGtgtcgggctcgatcaagccg	17	15	1	0	rs113513807	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:144990784G>A	ENST00000322810.4	-	32	13785	c.13616C>T	c.(13615-13617)aCg>aTg	p.T4539M	PLEC_ENST00000527096.1_Missense_Mutation_p.T4425M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4406M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4402M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4380M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4388M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4402M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4370M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4429M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4539	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGCCCGGCGTGTCGGGCTC	0.711													G|||	41	0.0081869	0.0023	0.0086	5008	,	,		12325	0		0.0209	False		,,,				2504	0.0112				p.T4539M		.											.	PLEC-141	0			c.C13616T						.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	14,3822		0,14,1904	19	24	22		13286,13163,13139,13616,13109,13205,13217,13205	-3.7	0	8	dbSNP_132	22	209,7973		4,201,3886	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	81,81,81,81,81,81,81,81	4,215,5790	AA,AG,GG		2.5544,0.365,1.8556	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	4429/4575,4388/4534,4380/4526,4539/4685,4370/4516,4402/4548,4406/4552,4402/4548	144990784	223,11795	1918	4091	6009	SO:0001583	missense	5339	exon32			CCCGGCGTGTCGG	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.13616C>T	8.37:g.144990784G>A	ENSP00000323856:p.Thr4539Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	35	15	NM_201380	0	0	42	72	30	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	22	0.010073260073260074	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	16	0.021108179419525065	G	1.795	-0.478413	0.04414	0.00365	0.025544	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.05	-3.73	0.04398	.	1.783410	0.03800	N	0.264398	T	0.53498	0.1800	L	0.61218	1.895	0.09310	N	1	B;B;B;B;B;B;B;B	0.11235	0.004;0.004;0.004;0.004;0.004;0.004;0.004;0.004	B;B;B;B;B;B;B;B	0.10450	0.003;0.003;0.003;0.005;0.003;0.003;0.003;0.003	T	0.57854	-0.7739	10	0.49607	T	0.09	.	11.9977	0.53212	0.5313:0.0:0.4687:0.0	.	4429;4388;4380;4539;4370;4402;4406;4402	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4402;4406;4402;4370;4539;4380;4388;4429;4425	ENSP00000344848:T4402M;ENSP00000350277:T4406M;ENSP00000346602:T4402M;ENSP00000381756:T4370M;ENSP00000323856:T4539M;ENSP00000347044:T4380M;ENSP00000348702:T4388M;ENSP00000388180:T4429M;ENSP00000434583:T4425M	ENSP00000323856:T4539M	T	-	2	0	PLEC	145062772	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.310000	0.08135	-1.195000	0.02680	-0.766000	0.03442	ACG	A|0.013;C|0.000;G|0.987		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144990784	G	A	144990784	3	1	38	1	0	0	0	0	1	0	0	0	12091	1145	40	1	442	1	PLEC	8	144990784	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	256	144990784	1373238	50	8865											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000436759.2_Silent_p.A1587A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_201380	0	0	1	1	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	38	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	8633	144999417	1364605	51	8866											
CPSF1	29894	broad.mit.edu	37	chr8	145623200	145623200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttgtgcagcgccaggCggtggtggcggccaccgtag	20	11	0	0			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr8:145623200C>T	ENST00000349769.3	-	20	2136	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	681					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)			CAGCGCCAGGCGGTGGTGGCG	0.692																																					p.R681H	NSCLC(133;1088 1848 27708 34777 35269)	.											.	CPSF1-91	0			c.G2042A						.						60	61	61					8																	145623200		2201	4295	6496	SO:0001583	missense	29894	exon20			GCCAGGCGGTGGT	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.2042G>A	8.37:g.145623200C>T	ENSP00000339353:p.Arg681His	Somatic	28	2		WXS	Illumina GAIIx	Phase_I	85	5	NM_013291	0	0	22	22	0	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070171	0.93950	.	.	ENSG00000071894	ENST00000349769	T	0.33216	1.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.47251	0.542	T	0.33420	-0.9869	10	0.66056	D	0.02	-11.3556	14.7099	0.69222	0.0:1.0:0.0:0.0	.	681	Q10570	CPSF1_HUMAN	H	681	ENSP00000339353:R681H	ENSP00000339353:R681H	R	-	2	0	CPSF1	145594008	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.606000	0.74159	2.541000	0.85698	0.491000	0.48974	CGC	.		0.692	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		T	145623200	C	T	145623200	3	4	38	1	0	0	0	0	1	0	0	0	3831	768	27	1	2365	1	CPSF1	8	145623200	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	623783	145623200	740822	52	8867											
KIF12	113220	broad.mit.edu	37	chr9	116854241	116854241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaatctggtctctgaggGcctccagtctctgggccagg	13	13	3	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr9:116854241G>T	ENST00000374118.3	-	16	1679	c.1442C>A	c.(1441-1443)gCc>gAc	p.A481D	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	614	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTCTCTGAGGGCCTCCAGTCT	0.672																																					p.A481D		.											.	KIF12-90	0			c.C1442A						.						33	34	34					9																	116854241		2203	4300	6503	SO:0001583	missense	113220	exon16			CTGAGGGCCTCCA	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1442C>A	9.37:g.116854241G>T	ENSP00000363232:p.Ala481Asp	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	102	10	NM_138424	0	0	0	0	0	Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718943	0.68844	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.76060	-0.99	3.86	3.86	0.44501	.	0.106806	0.41294	D	0.000901	T	0.62221	0.2410	L	0.32530	0.975	0.29827	N	0.830327	P	0.41313	0.745	B	0.37346	0.247	T	0.68062	-0.5508	10	0.87932	D	0	.	11.6029	0.51015	0.0:0.0:1.0:0.0	.	614	Q96FN5	KIF12_HUMAN	D	481;614	ENSP00000363232:A481D	ENSP00000259410:A614D	A	-	2	0	KIF12	115894062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.655000	0.46707	2.454000	0.82982	0.442000	0.29010	GCC	.		0.672	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		T	116854241	G	T	116854241	3	4	38	1	0	0	0	0	1	0	0	0	8300	1203	42	3	103	3	KIF12	9	116854241	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		116854241	24359190	53	8868											
C10orf18	54906	bcgsc.ca	37	chr10	5799613	5799613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgatatcagatgacaAgatactagaagctgtaacat	8	6	1	5	rs2275774	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr10:5799613A>G	ENST00000328090.5	+	17	7488	c.6863A>G	c.(6862-6864)aAg>aGg	p.K2288R		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2288			K -> R (in dbSNP:rs2275774).														TCAGATGACAAGATACTAGAA	0.418													A|||	416	0.0830671	0.0212	0.0994	5008	,	,		21518	0.0595		0.1759	False		,,,				2504	0.0838				p.K2288R		.											.	.	0			c.A6863G						.	A	ARG/LYS	156,3632		2,152,1740	243	230	234		6863	-3.2	0	10	dbSNP_100	234	1587,6647		160,1267,2690	yes	missense	FAM208B	NM_017782.4	26	162,1419,4430	GG,GA,AA		19.2737,4.1183,14.4984	benign	2288/2431	5799613	1743,10279	1894	4117	6011	SO:0001583	missense	54906	exon17			ATGACAAGATACT	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.6863A>G	10.37:g.5799613A>G	ENSP00000328426:p.Lys2288Arg	Somatic	158	2		WXS	Illumina GAIIx	Phase_I	149	6	NM_017782	0	0	18	18	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	226	0.10347985347985347	14	0.028455284552845527	42	0.11602209944751381	35	0.06118881118881119	135	0.17810026385224276	A	7.930	0.740551	0.15642	0.041183	0.192737	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.42900	0.96	5.59	-3.17	0.05202	.	0.622148	0.15979	N	0.235401	T	0.00039	0.0001	L	0.36672	1.1	0.80722	P	0.0	B	0.19200	0.034	B	0.14023	0.01	T	0.15983	-1.0418	9	0.27082	T	0.32	.	1.7479	0.02966	0.4115:0.2225:0.2581:0.1079	rs2275774;rs56581575;rs58161058;rs2275774	2288	Q5VWN6	F208B_HUMAN	R	2288;1483	ENSP00000328426:K2288R	ENSP00000328426:K2288R	K	+	2	0	C10orf18	5839619	0.000000	0.05858	0.005000	0.12908	0.046000	0.14306	-0.019000	0.12546	-0.495000	0.06659	0.533000	0.62120	AAG	A|0.887;G|0.113		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		G	5799613	A	G	5799613	3	3	38	1	0	0	0	0	1	0	0	0	1601	72	3	4	6917	4	C10orf18	10	5799613	Missense_Mutation	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10		5799613	129735134	54	8869											
SFTPD	6441	broad.mit.edu;bcgsc.ca	37	chr10	81706389	81706389	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggctgtgtgagcaggacCagtgcagagaggaggaagag	20	5	0	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr10:81706389C>A	ENST00000372292.3	-	2	67	c.27G>T	c.(25-27)ctG>ctT	p.L9L		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	9					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGAGCAGGACCAGTGCAGAGA	0.532																																					p.L9L		.											.	SFTPD-91	0			c.G27T						.						96	82	87					10																	81706389		2203	4300	6503	SO:0001819	synonymous_variant	6441	exon2			CAGGACCAGTGCA	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.27G>T	10.37:g.81706389C>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	151	7	NM_003019	0	0	0	0	0	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	CCDS7362.1																																																																																			.		0.532	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			A	81706389	C	A	81706389	2	1	38	1	0	0	0	0	0	0	0	1	14238	581	21	3		3	SFTPD	10	81706389	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	75906776	81706389	53828358	55	8870											
ABCC2	1244	broad.mit.edu	37	chr10	101594155	101594155	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatatttccacagtggatGacaccctgcctcagtccttg	9	12	1	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr10:101594155G>A	ENST00000370449.4	+	24	3390	c.3277G>A	c.(3277-3279)Gac>Aac	p.D1093N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1093	ABC transmembrane type-1 2. {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)	CACAGTGGATGACACCCTGCC	0.468																																					p.D1093N		.											.	ABCC2-91	0			c.G3277A						.						227	176	193					10																	101594155		2203	4300	6503	SO:0001583	missense	1244	exon24			GTGGATGACACCC	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.3277G>A	10.37:g.101594155G>A	ENSP00000359478:p.Asp1093Asn	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	146	5	NM_000392	0	0	0	0	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391770	0.42410	.	.	ENSG00000023839	ENST00000370449	D	0.90197	-2.63	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137820	0.64402	D	0.000005	D	0.84447	0.5474	N	0.17723	0.515	0.80722	D	1	B	0.18863	0.031	B	0.22880	0.042	T	0.79155	-0.1920	10	0.16896	T	0.51	-5.9054	18.9134	0.92494	0.0:0.0:1.0:0.0	.	1093	Q92887	MRP2_HUMAN	N	1093	ENSP00000359478:D1093N	ENSP00000359478:D1093N	D	+	1	0	ABCC2	101584145	1.000000	0.71417	0.964000	0.40570	0.403000	0.30841	9.424000	0.97464	2.463000	0.83235	0.511000	0.50034	GAC	.		0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101594155	G	A	101594155	3	1	38	1	0	0	0	0	1	0	0	0	53	1290	45	3	3371	3	ABCC2	10	101594155	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	19887766	101594155	33940592	56	8871											
C10orf81	79949	bcgsc.ca	37	chr10	115526177	115526177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttttattaggcaaacaAtttacattttcttatgaaaa	3	6	2	1	rs10885500	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr10:115526177A>G	ENST00000369310.3	+	2	580	c.18A>G	c.(16-18)caA>caG	p.Q6Q	PLEKHS1_ENST00000361048.1_Silent_p.Q12Q|PLEKHS1_ENST00000369312.4_5'UTR	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	6																	TAGGCAAACAATTTACATTTT	0.338													A|||	1168	0.233227	0.0234	0.4625	5008	,	,		18429	0.1379		0.4175	False		,,,				2504	0.2628				p.Q12Q		.											.	.	0			c.A36G						.	A	,,,	381,4023	190.2+/-216.2	23,335,1844	74	77	76		,,36,18	3.1	0.8	10	dbSNP_120	76	3479,5117	507.1+/-376.8	719,2041,1538	no	utr-5,intron,coding-synonymous,coding-synonymous	C10orf81	NM_001193434.1,NM_001193435.1,NM_024889.4,NM_182601.1	,,,	742,2376,3382	GG,GA,AA		40.4723,8.6512,29.6923	,,,	,,12/364,6/466	115526177	3860,9140	2202	4298	6500	SO:0001819	synonymous_variant	79949	exon3			CAAACAATTTACA	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.18A>G	10.37:g.115526177A>G		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	79	4	NM_024889	0	0	0	0	0	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000369310.3	37	CCDS53580.1																																																																																			A|0.729;G|0.271		0.338	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		G	115526177	A	G	115526177	2	3	38	1	0	0	0	0	0	0	0	1	1624	98	4	4		4	C10orf81	10	115526177	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	13932022	115526177	20008570	57	8872											
KCNJ11	3767	bcgsc.ca	37	chr11	17408831	17408831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtcgctgggtgccaGgtcgtagagtgggctgttgg	20	7	0	1	rs1800467	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr11:17408831G>C	ENST00000339994.4	-	1	1375	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.L183V	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	270			L -> V (in dbSNP:rs1800467). {ECO:0000269|PubMed:8897013, ECO:0000269|PubMed:9032109}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CTGGGTGCCAGGTCGTAGAGT	0.617											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	76	0.0151757	0.003	0.0245	5008	,	,		20338	0		0.0507	False		,,,				2504	0.0041				p.L270V		.											.	KCNJ11-91	0			c.C808G						.	G	VAL/LEU,VAL/LEU	31,4369	36.8+/-68.6	0,31,2169	139	127	131		808,547	5.4	1	11	dbSNP_89	131	403,8183	127.7+/-186.0	5,393,3895	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	32,32	5,424,6064	CC,CG,GG		4.6937,0.7045,3.3421	benign,benign	270/391,183/304	17408831	434,12552	2200	4293	6493	SO:0001583	missense	3767	exon1			GTGCCAGGTCGTA	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.808C>G	11.37:g.17408831G>C	ENSP00000345708:p.Leu270Val	Somatic	192	2	717	WXS	Illumina GAIIx	Phase_I	175	6	NM_000525	0	0	0	0	0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	48	0.02197802197802198	1	0.0020325203252032522	14	0.03867403314917127	0	0.0	33	0.04353562005277045	G	7.898	0.733876	0.15574	0.007045	0.046937	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.94723	-3.5;-3.5	5.43	5.43	0.79202	.	0.160775	0.42548	D	0.000688	T	0.65080	0.2657	L	0.38649	1.16	0.42195	D	0.991748	B	0.10296	0.003	B	0.12156	0.007	T	0.75966	-0.3131	10	0.49607	T	0.09	.	5.5084	0.16866	0.1558:0.0:0.6647:0.1794	rs1800467;rs8192538;rs1800467	270	B2RC52	.	V	270;183	ENSP00000345708:L270V;ENSP00000434755:L183V	ENSP00000345708:L270V	L	-	1	2	KCNJ11	17365407	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	1.095000	0.30964	2.548000	0.85928	0.561000	0.74099	CTG	G|0.734;C|0.266		0.617	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		C	17408831	G	C	17408831	3	2	38	1	0	0	0	0	1	0	0	0	8072	991	35	3	368	3	KCNJ11	11	17408831	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		17408831	117597685	58	8873											
NRXN2	9379	hgsc.bcm.edu	37	chr11	64480641	64480641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaggttggccaagagGccgcggaagggcggctcgta	17	10	1	1	rs2518907	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr11:64480641G>A	ENST00000377551.1	-	1	742	c.531C>T	c.(529-531)ggC>ggT	p.G177G	NRXN2_ENST00000265459.6_Silent_p.G177G|NRXN2_ENST00000409571.1_Silent_p.G177G|NRXN2_ENST00000377559.3_Silent_p.G177G			Q9P2S2	NRX2A_HUMAN	neurexin 2	177	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGCCAAGAGGCCGCGGAAGG	0.756													G|||	2672	0.533546	0.2216	0.5403	5008	,	,		8112	0.5407		0.7604	False		,,,				2504	0.7096				p.G177G		.											.	NRXN2-232	0			c.C531T						.	G	,	1316,1684		331,654,515	2	2	2		531,531	1.3	1	11	dbSNP_100	2	4949,1205		2080,789,208	no	coding-synonymous,coding-synonymous	NRXN2	NM_015080.3,NM_138732.2	,	2411,1443,723	AA,AG,GG		19.5808,43.8667,31.56	,	177/1713,177/1643	64480641	6265,2889	1500	3077	4577	SO:0001819	synonymous_variant	9379	exon2			CAAGAGGCCGCGG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.531C>T	11.37:g.64480641G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_138732	0	0	0	0	0	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			G|0.449;A|0.551		0.756	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64480641	G	A	64480641	2	1	38	1	0	0	0	0	0	0	0	1	10705	1190	42	3		3	NRXN2	11	64480641	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	47071810	64480641	70525875	59	8874											
MEN1	4221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	64573817	64573817	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagatgtgttcatcccgataGtaggtcttggctgaggcaat	12	7	2	2	rs386134260		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr11:64573817G>C	ENST00000337652.1	-	7	1454	c.951C>G	c.(949-951)taC>taG	p.Y317*	MEN1_ENST00000394374.2_Nonsense_Mutation_p.Y317*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Y312*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Y312*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Y312*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.Y312*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Y277*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Y317*|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Y317*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Y317*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	317	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CATCCCGATAGTAGGTCTTGG	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.Y317X	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	0			c.C951G	GRCh37	CM970934|CM981270	MEN1	M		.						250	223	232					11																	64573817		2201	4297	6498	SO:0001587	stop_gained	4221	exon7	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	CCGATAGTAGGTC	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.951C>G	11.37:g.64573817G>C	ENSP00000337088:p.Tyr317*	Somatic	340	1	1077	WXS	Illumina GAIIx	Phase_I	272	230	NM_130800	0	0	0	4	4	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663527	0.96745	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	.	.	.	3.86	3.86	0.44501	.	0.263609	0.31809	U	0.007025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5213	13.7318	0.62792	0.0:0.0:1.0:0.0	.	.	.	.	X	312;277;312;312;312;317;317;317;317;317;312	.	ENSP00000308975:Y312X	Y	-	3	2	MEN1	64330393	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.489000	0.66875	1.891000	0.54761	0.400000	0.26472	TAC	.		0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			C	64573817	G	C	64573817	4	2	38	1	0	0	0	0	0	1	0	0	9510	1024	36	3	912	3	MEN1	11	64573817	Nonsense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	93176	64573817	70432699	60	8875											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	38	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	1236392	65810209	69196307	61	8876											
TMPRSS12	283471	bcgsc.ca	37	chr12	51237684	51237684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggattatagggggcaccGaagcacaagctggcgcatgg	15	10	0	0	rs375889456		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr12:51237684G>A	ENST00000398458.3	+	2	279	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	RN7SL519P_ENST00000497925.2_RNA|TMPRSS12_ENST00000551456.1_Missense_Mutation_p.E83K	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	83	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AGGGGGCACCGAAGCACAAGC	0.473																																					p.E83K		.											.	.	0			c.G247A						.	G	LYS/GLU	0,3994		0,0,1997	45	46	46		247	3.8	0	12		46	1,8323		0,1,4161	no	missense	TMPRSS12	NM_182559.2	56	0,1,6158	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	83/349	51237684	1,12317	1997	4162	6159	SO:0001583	missense	283471	exon2			GGCACCGAAGCAC	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.247G>A	12.37:g.51237684G>A	ENSP00000381476:p.Glu83Lys	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	134	5	NM_182559	0	0	0	0	0	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772300	0.49680	0.0	1.2E-4	ENSG00000186452	ENST00000551456;ENST00000398458	D;D	0.88975	-2.45;-2.45	5.7	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.755543	0.12052	N	0.504025	T	0.79890	0.4524	L	0.38692	1.165	0.09310	N	1	P;P	0.44429	0.589;0.835	B;B	0.35413	0.105;0.202	T	0.67027	-0.5774	10	0.20046	T	0.44	-6.0964	8.0235	0.30423	0.0883:0.1658:0.7459:0.0	.	83;83	F8WBX2;Q86WS5	.;TMPSC_HUMAN	K	83	ENSP00000447259:E83K;ENSP00000381476:E83K	ENSP00000381476:E83K	E	+	1	0	TMPRSS12	49523951	0.002000	0.14202	0.006000	0.13384	0.277000	0.26821	1.038000	0.30254	1.355000	0.45865	0.563000	0.77884	GAA	.		0.473	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		A	51237684	G	A	51237684	3	1	38	1	0	0	0	0	1	0	0	0	16291	1059	37	1	253	1	TMPRSS12	12	51237684	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		51237684	82614211	62	8877											
BTBD11	121551	hgsc.bcm.edu	37	chr12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgcagtggccctgGgtcaggctcgggctccggcc	17	15	1	0	rs961498	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A|BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5	3	3		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		C	107713511	G	C	107713511	3	2	38	1	0	0	0	0	1	0	0	0	1543	1232	43	3	796	3	BTBD11	12	107713511	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	56475827	107713511	26138384	63	8878											
SETDB2	83852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	50050649	50050649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctctctcttgaagatAaagttgtagactttagagaa	7	5	2	4			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr13:50050649A>G	ENST00000317257.8	+	7	1204	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	SETDB2_ENST00000258672.5_Missense_Mutation_p.K115E|SETDB2_ENST00000354234.4_Missense_Mutation_p.K115E	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	127					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TCTTGAAGATAAAGTTGTAGA	0.294																																					p.K127E		.											.	SETDB2-91	0			c.A379G						.						67	75	73					13																	50050649		2203	4300	6503	SO:0001583	missense	83852	exon7			GAAGATAAAGTTG	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.379A>G	13.37:g.50050649A>G	ENSP00000326477:p.Lys127Glu	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	120	42	NM_031915	0	0	7	8	1	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	A	0.510	-0.866792	0.02590	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.86030	-2.05;-2.06;1.25	5.96	1.52	0.23074	.	0.868203	0.10351	N	0.685133	T	0.79064	0.4383	L	0.45581	1.43	0.27076	N	0.963193	B;B;B	0.14805	0.011;0.002;0.001	B;B;B	0.13407	0.009;0.006;0.003	T	0.62296	-0.6884	10	0.27082	T	0.32	.	9.1669	0.37056	0.6326:0.0:0.3674:0.0	.	127;115;127	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	E	115;127;115	ENSP00000346175:K115E;ENSP00000326477:K127E;ENSP00000258672:K115E	ENSP00000258672:K115E	K	+	1	0	SETDB2	48948650	0.897000	0.30589	0.500000	0.27589	0.133000	0.20885	0.227000	0.17795	-0.036000	0.13669	-0.256000	0.11100	AAA	.		0.294	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		G	50050649	A	G	50050649	3	3	38	1	0	0	0	0	1	0	0	0	14184	363	13	4	401	4	SETDB2	13	50050649	Missense_Mutation	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10		50050649	65119229	64	8879											
FOXG1	2290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	29237769	29237769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacccgtcaatgacttcGcagagcagcacgtccatgag	10	15	1	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr14:29237769G>A	ENST00000313071.4	+	1	1483	c.1284G>A	c.(1282-1284)tcG>tcA	p.S428S	FOXG1_ENST00000382535.3_Silent_p.S428S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	428					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S428S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAATGACTTCGCAGAGCAGCA	0.642																																					p.S428S		.											.	FOXG1-660	1	Substitution - coding silent(1)	large_intestine(1)	c.G1284A						.						57	52	53					14																	29237769		2203	4300	6503	SO:0001819	synonymous_variant	2290	exon1			GACTTCGCAGAGC		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1284G>A	14.37:g.29237769G>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	116	15	NM_005249	0	0	0	0	0	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	CCDS9636.1																																																																																			.		0.642	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			A	29237769	G	A	29237769	2	1	38	1	0	0	0	0	0	0	0	1	6031	1074	38	1		1	FOXG1	14	29237769	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		29237769	78111771	65	8880											
JAG2	3714	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	105622156	105622156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgtagtggccgaaaaagtCgttgcggggccggcagaact	17	8	0	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr14:105622156C>A	ENST00000331782.3	-	4	1049	c.646G>T	c.(646-648)Gac>Tac	p.D216Y	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.D216Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	216	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCGAAAAAGTCGTTGCGGGGC	0.637																																					p.D216Y		.											.	JAG2-846	0			c.G646T						.						85	62	70					14																	105622156		2196	4297	6493	SO:0001583	missense	3714	exon4			AAAAGTCGTTGCG	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.646G>T	14.37:g.105622156C>A	ENSP00000328169:p.Asp216Tyr	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	432	123	NM_145159	0	0	3	3	0	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005511	0.74932	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.97303	-4.33;-4.33	4.18	4.18	0.49190	Delta/Serrate/lag-2 (DSL) protein (3);	0.000000	0.85682	U	0.000000	D	0.98871	0.9618	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99675	1.0997	10	0.87932	D	0	.	15.476	0.75481	0.0:1.0:0.0:0.0	.	216;216	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	216	ENSP00000328169:D216Y;ENSP00000328566:D216Y	ENSP00000328169:D216Y	D	-	1	0	JAG2	104693201	1.000000	0.71417	0.995000	0.50966	0.537000	0.34900	5.872000	0.69636	1.864000	0.54056	0.563000	0.77884	GAC	.		0.637	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105622156	C	A	105622156	3	1	38	1	0	0	0	0	1	0	0	0	7962	884	31	2	3162	2	JAG2	14	105622156	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	76384387	105622156	1727384	66	8881											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_171846	0	0	0	4	4	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	38	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10		63414083	39117309	67	8882											
DAPK2	23604	broad.mit.edu	37	chr15	64275869	64275869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcgccggctcgcccgGctctgccgcttcttgatgaa	11	17	2	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr15:64275869G>T	ENST00000457488.1	-	3	207	c.177C>A	c.(175-177)agC>agA	p.S59R	DAPK2_ENST00000558069.1_Missense_Mutation_p.S59R|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000261891.3_Missense_Mutation_p.S59R	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGCTCGCCCGGCTCTGCCGCT	0.627																																					p.S59R		.											.	DAPK2-333	0			c.C177A						.						35	34	34					15																	64275869		2203	4300	6503	SO:0001583	missense	23604	exon3			CGCCCGGCTCTGC	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.177C>A	15.37:g.64275869G>T	ENSP00000408277:p.Ser59Arg	Somatic	47	1		WXS	Illumina GAIIx	Phase_I	167	11	NM_014326	0	0	7	7	0	E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	9.143	1.014356	0.19277	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.64618	-0.11;-0.11	5.35	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.276343	0.32416	N	0.006131	T	0.38931	0.1059	N	0.10664	0.02	0.58432	D	0.999995	P;B	0.34699	0.464;0.053	B;B	0.35859	0.212;0.021	T	0.17992	-1.0351	10	0.37606	T	0.19	.	7.8339	0.29360	0.144:0.0:0.7236:0.1324	.	59;59	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	R	59	ENSP00000261891:S59R;ENSP00000408277:S59R	ENSP00000261891:S59R	S	-	3	2	DAPK2	62062922	0.118000	0.22208	0.937000	0.37676	0.567000	0.35839	0.372000	0.20467	0.635000	0.30488	0.555000	0.69702	AGC	.		0.627	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		T	64275869	G	T	64275869	3	4	38	1	0	0	0	0	1	0	0	0	4245	1194	42	3	975	3	DAPK2	15	64275869	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	861786	64275869	38255523	68	8883											
LCTL	197021	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	66850065	66850065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgggctcaccaatgTagtccttcatgacttggggg	13	9	2	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr15:66850065T>C	ENST00000341509.5	-	8	1048	c.917A>G	c.(916-918)tAc>tGc	p.Y306C	LCTL_ENST00000537670.1_Missense_Mutation_p.Y133C	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	306					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCACCAATGTAGTCCTTCAT	0.512																																					p.Y306C		.											.	LCTL-92	0			c.A917G						.						78	79	79					15																	66850065		2201	4299	6500	SO:0001583	missense	197021	exon8			CCAATGTAGTCCT	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.917A>G	15.37:g.66850065T>C	ENSP00000343490:p.Tyr306Cys	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	120	7	NM_207338	0	0	0	0	0	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646757	0.29246	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.53640	0.61;1.47	5.44	-3.76	0.04359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.798245	0.12228	N	0.487714	T	0.52141	0.1716	M	0.83118	2.625	0.09310	N	1	D;D	0.54397	0.966;0.957	P;P	0.49829	0.591;0.623	T	0.51284	-0.8725	10	0.39692	T	0.17	-2.7945	8.4287	0.32744	0.115:0.158:0.0:0.7269	.	133;306	B3KQY0;Q6UWM7	.;LCTL_HUMAN	C	133;306	ENSP00000445419:Y133C;ENSP00000343490:Y306C	ENSP00000343490:Y306C	Y	-	2	0	LCTL	64637119	0.003000	0.15002	0.023000	0.16930	0.306000	0.27790	0.674000	0.25218	-0.513000	0.06496	-0.250000	0.11733	TAC	.		0.512	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		C	66850065	T	C	66850065	3	2	38	1	0	0	0	0	1	0	0	0	8722	1638	57	4	810	4	LCTL	15	66850065	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	2574196	66850065	35681327	69	8884											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059160	79059160	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggtgatgaggcgggTgaagggcgtggggccaggtg	24	5	0	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr15:79059160T>G	ENST00000388820.4	-	19	3303	c.3093A>C	c.(3091-3093)tcA>tcC	p.S1031S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1031					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						ATGAGGCGGGTGAAGGGCGTG	0.652																																					p.S1031S		.											.	ADAMTS7-226	0			c.A3093C						.						15	18	17					15																	79059160		2144	4169	6313	SO:0001819	synonymous_variant	11173	exon19			GGCGGGTGAAGGG	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.3093A>C	15.37:g.79059160T>G		Somatic	17	2		WXS	Illumina GAIIx	Phase_I	89	30	NM_014272	0	0	24	30	6	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			.		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79059160	T	G	79059160	2	3	38	1	0	0	0	0	0	0	0	1	271	1683	59	5		5	ADAMTS7	15	79059160	Silent	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	12209095	79059160	23472232	70	8885											
PLIN1	5346	hgsc.bcm.edu	37	chr15	90209135	90209135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgggttgtcgatgtcccgGaattcgctctcgggctccat	14	11	1	0	rs8179074	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr15:90209135G>A	ENST00000300055.5	-	9	1413	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	PLIN1_ENST00000430628.2_Silent_p.F416F	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	416					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CGATGTCCCGGAATTCGCTCT	0.741													G|||	104	0.0207668	0.0015	0.0288	5008	,	,		8462	0		0.0716	False		,,,				2504	0.0102				p.F416F		.											.	PLIN1-91	0			c.C1248T						.	G	,	31,3055		0,31,1512	4	5	4		1248,1248	0.6	1	15	dbSNP_117	4	256,5878		2,252,2813	no	coding-synonymous,coding-synonymous	PLIN1	NM_001145311.1,NM_002666.4	,	2,283,4325	AA,AG,GG		4.1735,1.0045,3.1128	,	416/523,416/523	90209135	287,8933	1543	3067	4610	SO:0001819	synonymous_variant	5346	exon9			GTCCCGGAATTCG	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1248C>T	15.37:g.90209135G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001145311	0	0	0	0	0	Q8N5Y6	Silent	SNP	ENST00000300055.5	37	CCDS10353.1																																																																																			G|0.976;A|0.024		0.741	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		A	90209135	G	A	90209135	2	1	38	1	0	0	0	0	0	0	0	1	12128	1165	41	3		3	PLIN1	15	90209135	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	11149975	90209135	12322257	71	8886											
SMG1	23049	hgsc.bcm.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1	rs190057031	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	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						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002				p.S12G		.											.	SMG1-1160	0			c.A34G						.						3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	23049	exon1			CGCCGCTGCTCAG	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.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	70	26	NM_015092	0	0	1	4	3	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC	T|0.974;C|0.026		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		C	18937330	T	C	18937330	3	2	38	1	0	0	0	0	1	0	0	0	14840	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10		18937330	71417423	72	8887											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_001243332	0	0	1	1	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	38	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	10971103	29908433	60446320	73	8888											
MYST1	84148	hgsc.bcm.edu	37	chr16	31129108	31129108	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggccgctgaggggaccgccCcatccccgggccgcgtctct	14	19	1	1	rs201871085	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:31129108C>G	ENST00000543774.2	+	2	441	c.106C>G	c.(106-108)Cca>Gca	p.P36A	KAT8_ENST00000219797.4_Missense_Mutation_p.P36A|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.P36A			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	36					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GGGGACCGCCCCATCCCCGGG	0.756													C|||	26	0.00519169	8e-04	0.0058	5008	,	,		5970	0		0.0199	False		,,,				2504	0.001				p.P36A		.											.	.	0			c.C106G						.						2	2	2					16																	31129108		1314	2756	4070	SO:0001583	missense	84148	exon1			ACCGCCCCATCCC	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.106C>G	16.37:g.31129108C>G	ENSP00000456933:p.Pro36Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	30	11	NM_182958	0	0	8	11	3	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	CCDS10706.1	27	0.012362637362637362	2	0.0040650406504065045	7	0.019337016574585635	0	0.0	18	0.023746701846965697	C	16.04	3.010830	0.54361	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	5.11	5.11	0.69529	.	0.372608	0.29783	N	0.011217	T	0.10766	0.0263	N	0.08118	0	0.23665	N	0.997163	B;B	0.15141	0.012;0.008	B;B	0.18871	0.017;0.023	T	0.10613	-1.0622	9	0.11485	T	0.65	-14.8804	11.0185	0.47705	0.1855:0.8145:0.0:0.0	.	36;36	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	A	36	.	ENSP00000219797:P36A	P	+	1	0	KAT8	31036609	0.917000	0.31117	0.957000	0.39632	0.939000	0.58152	2.367000	0.44213	2.665000	0.90641	0.655000	0.94253	CCA	C|0.988;G|0.012		0.756	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		G	31129108	C	G	31129108	3	3	38	1	0	0	0	0	1	0	0	0	10140	623	22	3	108	3	MYST1	16	31129108	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	1220675	31129108	59225645	74	8889											
ARMC5	79798	hgsc.bcm.edu	37	chr16	31475864	31475864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgcacccaacgcactcCgggccgcagccccgccgccg	10	23	0	0	rs142376949	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:31475864C>T	ENST00000563544.1	+	5	2066	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	ARMC5_ENST00000408912.3_Missense_Mutation_p.P602L|ARMC5_ENST00000457010.2_Missense_Mutation_p.P507L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P539L|ARMC5_ENST00000412665.2_Missense_Mutation_p.P151L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P507L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	507										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAACGCACTCCGGGCCGCAGC	0.746													C|||	64	0.0127796	0.0015	0.0043	5008	,	,		9253	0		0.0179	False		,,,				2504	0.0419				p.P507L		.											.	ARMC5-24	0			c.C1520T						.	C	LEU/PRO,LEU/PRO	20,3726		0,20,1853	5	8	7		1520,1520	0.4	0	16	dbSNP_134	7	141,7601		0,141,3730	no	missense,missense	ARMC5	NM_001105247.1,NM_024742.2	98,98	0,161,5583	TT,TC,CC		1.8212,0.5339,1.4015	benign,benign	507/936,507/726	31475864	161,11327	1873	3871	5744	SO:0001583	missense	79798	exon4			GCACTCCGGGCCG	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.1520C>T	16.37:g.31475864C>T	ENSP00000456877:p.Pro507Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	6	NM_024742	0	0	3	11	8	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	19	0.0086996336996337	2	0.0040650406504065045	0	0.0	0	0.0	17	0.022427440633245383	C	12.56	1.974694	0.34848	0.005339	0.018212	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.83	0.452	0.16634	.	0.629960	0.16046	N	0.232195	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.001;0.003;0.001;0.006	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.18840	-1.0324	10	0.33141	T	0.24	-24.8415	4.723	0.12927	0.1372:0.4886:0.0:0.3742	.	539;539;602;507;507	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	602;539;507;507;151	ENSP00000386125:P602L;ENSP00000443995:P539L;ENSP00000268314:P507L;ENSP00000399561:P507L;ENSP00000400183:P151L	ENSP00000268314:P507L	P	+	2	0	ARMC5	31383365	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.656000	0.05342	-0.113000	0.11958	-0.140000	0.14226	CCG	C|0.991;T|0.009		0.746	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31475864	C	T	31475864	3	4	38	1	0	0	0	0	1	0	0	0	955	652	23	1	1534	1	ARMC5	16	31475864	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	346756	31475864	58878889	75	8890											
CMTM1	113540	broad.mit.edu	37	chr16	66600431	66600431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccatggatcctgaacaCgccaaacctgagtcatccga	7	16	1	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:66600431C>T	ENST00000457188.2	+	1	136	c.15C>T	c.(13-15)caC>caT	p.H5H	CMTM1_ENST00000528324.1_Silent_p.H5H|CMTM1_ENST00000328020.6_Silent_p.H5H|CMTM1_ENST00000531885.1_Silent_p.H5H|CMTM1_ENST00000336328.6_Silent_p.H5H|CMTM1_ENST00000533953.1_Silent_p.H5H|CMTM1_ENST00000533666.1_Silent_p.H5H|CMTM1_ENST00000529506.1_5'UTR|CMTM1_ENST00000332695.7_Silent_p.H5H|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000379500.2_Silent_p.H5H|CMTM1_ENST00000535705.1_Silent_p.H5H	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	5					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		ATCCTGAACACGCCAAACCTG	0.637																																					p.H5H		.											.	CMTM1-90	0			c.C15T						.						85	65	72					16																	66600431		2201	4300	6501	SO:0001819	synonymous_variant	113540	exon1			TGAACACGCCAAA	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.15C>T	16.37:g.66600431C>T		Somatic	36	1		WXS	Illumina GAIIx	Phase_I	61	29	NM_181271	0	0	2	3	1	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	CCDS45503.1																																																																																			.		0.637	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		T	66600431	C	T	66600431	2	4	38	1	0	0	0	0	0	0	0	1	3589	535	19	1		1	CMTM1	16	66600431	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	35124567	66600431	23754322	76	8891											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	38	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-OR-A5KW-01A-11D-A29I-10	21999265	88599696	1755057	77	8892	80	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	27	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	38	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5KW-01A-11D-A29I-10	1	88599697	1755056	78	8893	80	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-													ggagaggccagagcggagccTctggcccagaatggaggcag					rs67322929|rs149145771	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1	1	1					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	13	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599701	T	-	88599701	7	5	38	1	0	1	0	1	0	0	0	0	17705	1538	54	0	1373	0	ZFPM1	16	88599701	Frame_Shift_Del	DEL	T	TCGA-OR-A5KW-01A-11D-A29I-10	4	88599701	1755052	79	8894	80	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-													agaggccagagcggagcctcTggcccagaatggaggcagca					rs149145771|rs67873604	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	13	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	TGG	-	88599703	7	5	38	1	0	1	0	1	0	0	0	0	17705	1580	55	0	1375	0	ZFPM1	16	88599703	In_Frame_Del	DEL	TGG	TCGA-OR-A5KW-01A-11D-A29I-10	2	88599703	1755050	80	8895	80	4									
C16orf3	2622	bcgsc.ca	37	chr16	90095573	90095573	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctacggggcaggctaCggggcagcttacggggcagg	19	11	0	0	rs77382359		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr16:90095573C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V60I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctacggggcagctt	0.672																																					p.V60I		.											.	C16orf3-90	0			c.G178A						.						22	20	21					16																	90095573		2194	4299	6493	SO:0001627	intron_variant	750	exon1			AGGCTACGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1443C>T	16.37:g.90095573C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	155	14	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788068	0.02884	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	.	.	.	.	68	O95177	CP003_HUMAN	I	60	ENSP00000386218:V60I	.	V	-	1	0	C16orf3	88623074	0.031000	0.19500	0.015000	0.15790	0.017000	0.09413	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GTA	C|0.500;T|0.500		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90095573	C	T	90095573	1	4	38	0	1	0	0	0	0	0	0	0	1817	536	19	1		1	C16orf3	16	90095573	Intron	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	1495870	90095573	259180	81	8896											
GSG2	83903	hgsc.bcm.edu	37	chr17	3627456	3627456	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacttccccggcagcccggTgaggcggcggcggaggcgtc	18	15	0	1	rs11653889	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:3627456T>A	ENST00000325418.4	+	1	246	c.227T>A	c.(226-228)gTg>gAg	p.V76E	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'Flank|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	76			V -> E (in dbSNP:rs11653889). {ECO:0000269|PubMed:17344846}.		histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCAGCCCGGTGAGGCGGCGG	0.711													T|||	16	0.00319489	0	0.0014	5008	,	,		12080	0		0.0119	False		,,,				2504	0.0031				p.V76E		.											.	GSG2-297	0			c.T227A						.	T	,GLU/VAL	6,4170		0,6,2082	6	10	9		,227	-0.7	0	17	dbSNP_120	9	87,8123		0,87,4018	yes	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,121	0,93,6100	AA,AT,TT		1.0597,0.1437,0.7508	,possibly-damaging	,76/799	3627456	93,12293	2088	4105	6193	SO:0001583	missense	83903	exon1			GCCCGGTGAGGCG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.227T>A	17.37:g.3627456T>A	ENSP00000325290:p.Val76Glu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	13	NM_031965	0	0	0	1	1	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	8	0.003663003663003663	2	0.0040650406504065045	0	0.0	0	0.0	6	0.0079155672823219	T	9.790	1.177619	0.21787	0.001437	0.010597	ENSG00000177602	ENST00000325418	T	0.07800	3.16	3.98	-0.668	0.11392	.	1.462810	0.04797	N	0.432724	T	0.04679	0.0127	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.39299	0.296	T	0.36939	-0.9727	10	0.87932	D	0	-27.3067	6.569	0.22529	0.0:0.422:0.1416:0.4364	rs11653889	76	Q8TF76	HASP_HUMAN	E	76	ENSP00000325290:V76E	ENSP00000325290:V76E	V	+	2	0	GSG2	3574205	0.046000	0.20272	0.015000	0.15790	0.108000	0.19459	0.710000	0.25748	-0.167000	0.10871	-0.456000	0.05471	GTG	T|0.995;A|0.005		0.711	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		A	3627456	T	A	3627456	3	1	38	1	0	0	0	0	1	0	0	0	6849	1696	59	5	229	5	GSG2	17	3627456	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10		3627456	77567754	82	8897											
ENO3	2027	bcgsc.ca	37	chr17	4856580	4856580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagaaactaagcgttgTggatcaagaaaaagttgaca	9	7	1	3	rs238239	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:4856580T>C	ENST00000323997.6	+	5	386	c.254T>C	c.(253-255)gTg>gCg	p.V85A	ENO3_ENST00000519584.1_Intron|ENO3_ENST00000518175.1_Missense_Mutation_p.V85A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	85			V -> A (in dbSNP:rs238239). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2336366, ECO:0000269|PubMed:8513787}.		aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTAAGCGTTGTGGATCAAGAA	0.473													T|||	1522	0.303914	0.1445	0.4481	5008	,	,		20657	0.1548		0.5437	False		,,,				2504	0.3241				p.V85A		.											.	ENO3-227	0			c.T254C						.	T	,ALA/VAL,ALA/VAL	1009,3397	375.9+/-321.8	112,785,1306	160	166	164		,254,254	4.4	1	17	dbSNP_79	164	4845,3755	616.5+/-396.5	1369,2107,824	no	intron,missense,missense	ENO3	NM_001193503.1,NM_001976.4,NM_053013.3	,64,64	1481,2892,2130	CC,CT,TT		43.6628,22.9006,45.01	,benign,benign	,85/435,85/435	4856580	5854,7152	2203	4300	6503	SO:0001583	missense	2027	exon5			GCGTTGTGGATCA	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.254T>C	17.37:g.4856580T>C	ENSP00000324105:p.Val85Ala	Somatic	199	2		WXS	Illumina GAIIx	Phase_I	179	10	NM_001976	0	0	1	1	0	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	762	0.3489010989010989	84	0.17073170731707318	178	0.49171270718232046	82	0.14335664335664336	418	0.5514511873350924	T	16.43	3.121456	0.56613	0.229006	0.563372	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000518175	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.52	4.42	0.53409	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.22240	P	0.999268271	B	0.02656	0.0	B	0.17722	0.019	T	0.41413	-0.9510	7	0.59425	D	0.04	-4.8798	11.2677	0.49120	0.0:0.0:0.1529:0.8471	rs238239;rs1133199;rs3178310;rs3194733;rs11537780;rs52795865;rs56655488;rs238239	85	D3DTL2	.	A	85	ENSP00000428502:V85A;ENSP00000430055:V85A;ENSP00000324105:V85A;ENSP00000428811:V85A;ENSP00000431087:V85A	ENSP00000324105:V85A	V	+	2	0	ENO3	4797326	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.019000	0.64060	0.998000	0.38996	0.533000	0.62120	GTG	T|0.602;C|0.398		0.473	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			C	4856580	T	C	4856580	3	2	38	1	0	0	0	0	1	0	0	0	5139	1696	59	4	268	4	ENO3	17	4856580	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	1229124	4856580	76338630	83	8898											
NLGN2	57555	hgsc.bcm.edu	37	chr17	7320874	7320874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggtggtggcgtcggggCggaccctgccgaggctctgc	21	12	1	0	rs62061174	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:7320874C>T	ENST00000302926.2	+	7	2337	c.2264C>T	c.(2263-2265)gCg>gTg	p.A755V	SPEM1_ENST00000323675.3_5'Flank|NLGN2_ENST00000575301.1_Missense_Mutation_p.A755V|RP11-104H15.7_ENST00000575310.1_RNA	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	755					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGCGTCGGGGCGGACCCTGCC	0.761													C|||	53	0.0105831	8e-04	0.0187	5008	,	,		6326	0		0.0338	False		,,,				2504	0.0051				p.A755V		.											.	NLGN2-90	0			c.C2264T						.	C	VAL/ALA	15,3913		0,15,1949	5	5	5		2264	2.3	1	17	dbSNP_129	5	206,7598		3,200,3699	yes	missense	NLGN2	NM_020795.2	64	3,215,5648	TT,TC,CC		2.6397,0.3819,1.8837	benign	755/836	7320874	221,11511	1964	3902	5866	SO:0001583	missense	57555	exon7			TCGGGGCGGACCC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.2264C>T	17.37:g.7320874C>T	ENSP00000305288:p.Ala755Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_020795	0	0	0	1	1	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	30	0.013736263736263736	0	0.0	6	0.016574585635359115	2	0.0034965034965034965	22	0.029023746701846966	C	9.067	0.995877	0.19043	0.003819	0.026397	ENSG00000169992	ENST00000302926	T	0.64803	-0.12	3.42	2.33	0.28932	.	0.633271	0.13495	N	0.383697	T	0.15739	0.0379	N	0.08118	0	0.28833	N	0.897033	B	0.09022	0.002	B	0.01281	0.0	T	0.07028	-1.0794	10	0.14656	T	0.56	.	10.3885	0.44154	0.0:0.798:0.202:0.0	rs62061174	755	Q8NFZ4	NLGN2_HUMAN	V	755	ENSP00000305288:A755V	ENSP00000305288:A755V	A	+	2	0	NLGN2	7261598	0.090000	0.21635	0.981000	0.43875	0.746000	0.42486	2.934000	0.48956	1.904000	0.55121	0.448000	0.29417	GCG	C|0.986;T|0.014		0.761	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		T	7320874	C	T	7320874	3	4	38	1	0	0	0	0	1	0	0	0	10501	768	27	1	2290	1	NLGN2	17	7320874	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	2464294	7320874	73874336	84	8899											
MAPK7	5598	broad.mit.edu	37	chr17	19285118	19285118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgcacccctggaggCtcctgagcctcggaagccgg	13	18	0	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:19285118C>A	ENST00000308406.5	+	5	1888	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.A362D|MAPK7_ENST00000395604.3_Missense_Mutation_p.A501D|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A501D	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	501	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.A501D(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCTGGAGGCTCCTGAGCCT	0.672																																					p.A501D		.											.	MAPK7-1402	1	Substitution - Missense(1)	endometrium(1)	c.C1502A						.						10	17	15					17																	19285118		2162	4232	6394	SO:0001583	missense	5598	exon5			TGGAGGCTCCTGA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1502C>A	17.37:g.19285118C>A	ENSP00000311005:p.Ala501Asp	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	56	9	NM_002749	0	0	24	25	1	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248312	0.59103	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.74209	-0.57;-0.82;-0.57;-0.57	4.36	3.39	0.38822	.	0.278335	0.34291	N	0.004097	T	0.62792	0.2457	N	0.22421	0.69	0.33339	D	0.569546	P	0.50943	0.94	P	0.47299	0.543	T	0.71846	-0.4469	10	0.87932	D	0	-7.5638	6.6062	0.22726	0.0:0.7883:0.0:0.2117	.	501	Q13164	MK07_HUMAN	D	501;362;501;501	ENSP00000311005:A501D;ENSP00000299612:A362D;ENSP00000378968:A501D;ENSP00000378966:A501D	ENSP00000299612:A362D	A	+	2	0	MAPK7	19225711	0.988000	0.35896	0.980000	0.43619	0.970000	0.65996	1.704000	0.37857	1.055000	0.40461	0.561000	0.74099	GCT	.		0.672	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		A	19285118	C	A	19285118	3	1	38	1	0	0	0	0	1	0	0	0	9320	797	28	3	1516	3	MAPK7	17	19285118	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	11964244	19285118	61910092	85	8900											
G6PC	2538	hgsc.bcm.edu;bcgsc.ca	37	chr17	41063167	41063167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcctcaagaacctgggCacgctctttggcctggggct	12	14	2	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:41063167C>T	ENST00000253801.2	+	5	877	c.798C>T	c.(796-798)ggC>ggT	p.G266G	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	266			G -> V (in GSD1A). {ECO:0000269|PubMed:10094563}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGAACCTGGGCACGCTCTTTG	0.587																																					p.G266G		.											.	G6PC-292	0			c.C798T						.						84	75	78					17																	41063167		2203	4300	6503	SO:0001819	synonymous_variant	2538	exon5			CCTGGGCACGCTC	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.798C>T	17.37:g.41063167C>T		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	148	8	NM_000151	0	0	0	0	0	A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	37	CCDS11446.1																																																																																			.		0.587	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		T	41063167	C	T	41063167	2	4	38	1	0	0	0	0	0	0	0	1	6167	697	25	3		3	G6PC	17	41063167	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	21778049	41063167	40132043	86	8901											
SCRN2	90507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	45916995	45916995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgggcagagctgctcCgttccaaagccagcctggca	11	16	0	1	rs552628767		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:45916995C>T	ENST00000290216.9	-	4	496	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	SCRN2_ENST00000407215.3_Missense_Mutation_p.R124Q|SCRN2_ENST00000584123.1_Missense_Mutation_p.R132Q	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	124						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGAGCTGCTCCGTTCCAAAGC	0.607													C|||	1	0.000199681	0	0	5008	,	,		20315	0.001		0	False		,,,				2504	0				p.R124Q		.											.	SCRN2-91	0			c.G371A						.						92	91	91					17																	45916995		2203	4300	6503	SO:0001583	missense	90507	exon4			CTGCTCCGTTCCA	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.371G>A	17.37:g.45916995C>T	ENSP00000290216:p.Arg124Gln	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	123	111	NM_138355	0	0	0	4	4	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477535	0.96291	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.24350	1.86;1.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.92833	3.35	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	0.72666	-0.4224	10	0.87932	D	0	-39.723	17.8079	0.88607	0.0:1.0:0.0:0.0	.	124;124;124	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	Q	124	ENSP00000290216:R124Q;ENSP00000383935:R124Q	ENSP00000290216:R124Q	R	-	2	0	SCRN2	43271994	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.781000	0.85668	2.504000	0.84457	0.561000	0.74099	CGG	.		0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		T	45916995	C	T	45916995	3	4	38	1	0	0	0	0	1	0	0	0	13984	652	23	1	944	1	SCRN2	17	45916995	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	4853828	45916995	35278215	87	8902											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000417379.1_Missense_Mutation_p.A438T|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	38	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	33179120	79096115	2099095	88	8903											
ARHGAP28	79822	bcgsc.ca	37	chr18	6890434	6890434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttctccaggttccAtctttcttaatcactcaagt	3	11	6	0	rs1116757	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr18:6890434A>G	ENST00000383472.4	+	14	1844	c.1740A>G	c.(1738-1740)ccA>ccG	p.P580P	ARHGAP28_ENST00000262227.3_Silent_p.P528P|ARHGAP28_ENST00000400091.2_Silent_p.P580P|ARHGAP28_ENST00000314319.3_Silent_p.P421P|ARHGAP28_ENST00000419673.2_Silent_p.P421P|ARHGAP28_ENST00000532996.1_Silent_p.P403P|ARHGAP28_ENST00000531294.1_Silent_p.P416P|ARHGAP28_ENST00000418986.1_Silent_p.P421P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	580					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)				TCCAGGTTCCATCTTTCTTAA	0.458													G|||	2820	0.563099	0.5719	0.5331	5008	,	,		19204	0.6052		0.5686	False		,,,				2504	0.5235				p.P421P		.											.	ARHGAP28-91	0			c.A1263G						.	G		2530,1876	540.2+/-375.5	711,1108,384	76	74	74		1263	-7.3	0.4	18	dbSNP_86	74	4832,3768	532.5+/-382.2	1327,2178,795	no	coding-synonymous	ARHGAP28	NM_001010000.2		2038,3286,1179	GG,GA,AA		43.814,42.5783,43.3954		421/571	6890434	7362,5644	2203	4300	6503	SO:0001819	synonymous_variant	79822	exon13			GGTTCCATCTTTC	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.1740A>G	18.37:g.6890434A>G		Somatic	242	3		WXS	Illumina GAIIx	Phase_I	174	8	NM_001010000	0	0	0	0	0	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37																																																																																				A|0.426;G|0.574		0.458	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		G	6890434	A	G	6890434	2	3	38	1	0	0	0	0	0	0	0	1	877	204	8	4		4	ARHGAP28	18	6890434	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10		6890434	71186814	89	8904											
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	29102113	29102113	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accctgaattcgaaaatttcCtatagaatcgtatctctgga	6	9	1	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr18:29102113C>G	ENST00000261590.8	+	6	800	c.591C>G	c.(589-591)tcC>tcG	p.S197S	DSG2_ENST00000585206.1_Silent_p.S197S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGAAAATTTCCTATAGAATCG	0.383																																					p.S197S		.											.	DSG2-563	0			c.C591G						.						99	95	97					18																	29102113		1859	4096	5955	SO:0001819	synonymous_variant	1829	exon6			AATTTCCTATAGA	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.591C>G	18.37:g.29102113C>G		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	83	69	NM_001943	0	0	0	0	0	Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																			.		0.383	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		G	29102113	C	G	29102113	2	3	38	1	0	0	0	0	0	0	0	1	4791	668	24	3		3	DSG2	18	29102113	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	22211679	29102113	48975135	90	8905											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000536472.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_019112	0	0	6	8	2	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	38	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10		1065044	58063939	91	8906											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_012088	0	0	0	27	27		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	38	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	16557570	17622614	41506369	92	8907											
CILP2	148113	hgsc.bcm.edu	37	chr19	19651140	19651140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgaccgctggcgctggaAgcgcgcaccacggactgggc	16	16	0	0	rs4808970	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:19651140A>G	ENST00000291495.5	+	3	376	c.291A>G	c.(289-291)gaA>gaG	p.E97E	CILP2_ENST00000586018.1_Silent_p.E103E	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	97						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGGCGCTGGAAGCGCGCACCA	0.726													A|||	593	0.118411	0.1626	0.1167	5008	,	,		10102	0		0.168	False		,,,				2504	0.1309				p.E97E		.											.	CILP2-91	0			c.A291G						.	A		612,3678		42,528,1575	10	11	11		291	3.2	1	19	dbSNP_111	11	1223,7149		89,1045,3052	no	coding-synonymous	CILP2	NM_153221.2		131,1573,4627	GG,GA,AA		14.6082,14.2657,14.4922		97/1157	19651140	1835,10827	2145	4186	6331	SO:0001819	synonymous_variant	148113	exon3			GCTGGAAGCGCGC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.291A>G	19.37:g.19651140A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_153221	0	0	0	0	0	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	CCDS12405.1																																																																																			A|0.873;G|0.127		0.726	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		G	19651140	A	G	19651140	2	3	38	1	0	0	0	0	0	0	0	1	3437	69	3	4		4	CILP2	19	19651140	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	2028526	19651140	39477843	93	8908											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_000400	0	0	0	15	15	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	38	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	26216119	45867259	13261724	94	8909											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	38	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	1260065	47127324	12001659	95	8910											
ELSPBP1	64100	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	48525476	48525476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactttccgttcaactaTaaaaacaagaattattttaa	3	7	2	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:48525476T>C	ENST00000339841.2	+	6	742	c.564T>C	c.(562-564)taT>taC	p.Y188Y	ELSPBP1_ENST00000597519.1_Silent_p.Y40Y	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	188	Fibronectin type-II 4. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGTTCAACTATAAAAACAAGA	0.443																																					p.Y188Y		.											.	ELSPBP1-90	0			c.T564C						.						172	157	162					19																	48525476		2203	4300	6503	SO:0001819	synonymous_variant	64100	exon6			CAACTATAAAAAC	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.564T>C	19.37:g.48525476T>C		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	305	22	NM_022142	0	0	6	6	0	Q96RT0|Q9H4C8	Silent	SNP	ENST00000339841.2	37	CCDS12708.1																																																																																			.		0.443	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			C	48525476	T	C	48525476	2	2	38	1	0	0	0	0	0	0	0	1	5099	1413	49	4		4	ELSPBP1	19	48525476	Silent	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	1398152	48525476	10603507	96	8911											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_145807	0	0	0	2	2	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	38	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	639476	49164952	9964031	97	8912											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_001114598	0	0	0	1	1	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	38	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5KW-01A-11D-A29I-10	1850452	51015404	8113579	98	8913											
ZNF808	388558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53058713	53058713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagagaaaccttacaaAtgtgaagcatgtgacaaagt	10	6	0	3			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr19:53058713A>G	ENST00000359798.4	+	5	2724	c.2544A>G	c.(2542-2544)aaA>aaG	p.K848K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAATGTGAAGCAT	0.368																																					p.K848K		.											.	.	0			c.A2544G						.						91	95	94					19																	53058713		2203	4300	6503	SO:0001819	synonymous_variant	388558	exon5			TTACAAATGTGAA	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2544A>G	19.37:g.53058713A>G		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	108	39	NM_001039886	0	0	4	4	0	Q68CN7	Silent	SNP	ENST00000359798.4	37	CCDS46167.1																																																																																			.		0.368	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		G	53058713	A	G	53058713	2	3	38	1	0	0	0	0	0	0	0	1	18221	98	4	4		4	ZNF808	19	53058713	Silent	SNP	A	TCGA-OR-A5KW-01A-11D-A29I-10	2043309	53058713	6070270	99	8914											
C20orf152	140894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	34618419	34618419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagagagatctacaaccCtaagtctgtggtcctggatt	11	8	2	2			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr20:34618419C>T	ENST00000373973.3	+	12	1753	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.P523L			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	527																	ATCTACAACCCTAAGTCTGTG	0.483																																					p.P523L		.											.	.	0			c.C1568T						.						173	158	163					20																	34618419		2203	4300	6503	SO:0001583	missense	140894	exon12			ACAACCCTAAGTC	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.1580C>T	20.37:g.34618419C>T	ENSP00000363084:p.Pro527Leu	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	200	21	NM_080834	0	0	1	1	0	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	C	11.47	1.648263	0.29336	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.16457	2.35;2.34	5.42	3.39	0.38822	.	0.693442	0.13540	N	0.380320	T	0.14570	0.0352	L	0.42245	1.32	0.09310	N	0.999995	B	0.20671	0.047	B	0.20955	0.032	T	0.24548	-1.0157	10	0.62326	D	0.03	-0.9264	5.6897	0.17823	0.1904:0.7007:0.0:0.1089	.	523	Q96M20-2	.	L	527;523	ENSP00000363084:P527L;ENSP00000340954:P523L	ENSP00000340954:P523L	P	+	2	0	C20orf152	34081833	0.002000	0.14202	0.001000	0.08648	0.057000	0.15508	1.403000	0.34612	0.590000	0.29694	0.561000	0.74099	CCT	.		0.483	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		T	34618419	C	T	34618419	3	4	38	1	0	0	0	0	1	0	0	0	2099	681	24	3	1614	3	C20orf152	20	34618419	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10		34618419	28407101	100	8915											
DIDO1	11083	hgsc.bcm.edu	37	chr20	61512424	61512424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccgtcctgctcggaCcccgctgggggcttttcgcc	12	17	0	0	rs146466196	byFrequency	TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr20:61512424C>T	ENST00000266070.4	-	16	5209	c.4884G>A	c.(4882-4884)ggG>ggA	p.G1628G	DIDO1_ENST00000395343.1_Silent_p.G1628G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1628					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)					CCTGCTCGGACCCCGCTGGGG	0.721													C|||	73	0.0145767	0.0045	0.0461	5008	,	,		12063	0		0.0318	False		,,,				2504	0.0031				p.G1628G	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G4884A						.	C	,	18,3720		0,18,1851	8	10	9		4884,4884	-7	0	20	dbSNP_134	9	163,7457		2,159,3649	no	coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_033081.2	,	2,177,5500	TT,TC,CC		2.1391,0.4815,1.5936	,	1628/2241,1628/2241	61512424	181,11177	1869	3810	5679	SO:0001819	synonymous_variant	11083	exon16			CTCGGACCCCGCT	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.4884G>A	20.37:g.61512424C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_001193369	0	0	0	2	2	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																			C|0.981;T|0.019		0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61512424	C	T	61512424	2	4	38	1	0	0	0	0	0	0	0	1	4536	494	18	3		3	DIDO1	20	61512424	Silent	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	26894005	61512424	1513096	101	8916											
RFPL1	5988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	29837551	29837551	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggatatgaccttggatgccGacacagccaacaacttcctc	8	13	0	1			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chr22:29837551G>C	ENST00000354373.2	+	2	603	c.394G>C	c.(394-396)Gac>Cac	p.D132H	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTGGATGCCGACACAGCCAA	0.488																																					p.D132H		.											.	RFPL1-90	0			c.G394C						.						114	100	105					22																	29837551		2203	4300	6503	SO:0001583	missense	5988	exon2			GATGCCGACACAG	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.394G>C	22.37:g.29837551G>C	ENSP00000346342:p.Asp132His	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	188	133	NM_021026	0	0	1	2	1	Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	15.63	2.890074	0.52014	.	.	ENSG00000128250	ENST00000354373	T	0.12465	2.68	1.1	1.1	0.20463	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.34250	0.0891	M	0.81614	2.55	0.24859	N	0.992351	D	0.71674	0.998	D	0.72338	0.977	T	0.04723	-1.0931	9	0.72032	D	0.01	.	8.0526	0.30587	0.0:0.0:1.0:0.0	.	132	O75677	RFPL1_HUMAN	H	132	ENSP00000346342:D132H	ENSP00000346342:D132H	D	+	1	0	RFPL1	28167551	0.010000	0.17322	0.192000	0.23308	0.425000	0.31504	0.958000	0.29227	0.896000	0.36366	0.424000	0.28305	GAC	.		0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		C	29837551	G	C	29837551	3	2	38	1	0	0	0	0	1	0	0	0	13298	1058	37	2	400	2	RFPL1	22	29837551	Missense_Mutation	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10		29837551	21467015	102	8917											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053				p.23_24del		.											.	SRPX-130	2	Deletion - In frame(2)	prostate(2)	c.68_70del						.																																			SO:0001651	inframe_deletion	8406	exon1			GGACGCGCAGCAG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	Somatic	6	0	875	WXS	Illumina GAIIx	Phase_I	56	13	NM_001170751	0	0	0	0	0	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	CCDS14245.1																																																																																			-|1.000;|0.000		0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		-	38079978	GCA	-	38079976	7	5	38	1	0	1	0	1	0	0	0	0	15211	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-OR-A5KW-01A-11D-A29I-10		38079976	117190584	103	8918											
ZNF157	7712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	47230123	47230123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgattccaggagaacCtggcagatcttttgaggtaa	11	9	1	4	rs186352953		TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chrX:47230123C>A	ENST00000377073.3	+	1	142	c.56C>A	c.(55-57)cCt>cAt	p.P19H		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	19					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						CCAGGAGAACCTGGCAGATCT	0.413																																					p.P19H		.											.	ZNF157-130	0			c.C56A						.						73	60	64					X																	47230123		2203	4300	6503	SO:0001583	missense	7712	exon1			GAGAACCTGGCAG	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.56C>A	X.37:g.47230123C>A	ENSP00000366273:p.Pro19His	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	375	180	NM_003446	0	0	0	0	0	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.975935	0.00452	.	.	ENSG00000147117	ENST00000377073	T	0.07444	3.19	3.29	1.49	0.22878	.	.	.	.	.	T	0.05227	0.0139	N	0.13098	0.295	0.09310	N	1	P	0.47604	0.898	P	0.44623	0.455	T	0.33007	-0.9885	9	0.36615	T	0.2	.	3.4193	0.07388	0.2516:0.6073:0.0:0.1411	.	19	P51786	ZN157_HUMAN	H	19	ENSP00000366273:P19H	ENSP00000366273:P19H	P	+	2	0	ZNF157	47115067	0.998000	0.40836	0.173000	0.22940	0.006000	0.05464	0.232000	0.17891	0.268000	0.21939	-0.306000	0.09157	CCT	C|1.000;T|0.000		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		A	47230123	C	A	47230123	3	1	38	1	0	0	0	0	1	0	0	0	17785	681	24	3	58	3	ZNF157	23	47230123	Missense_Mutation	SNP	C	TCGA-OR-A5KW-01A-11D-A29I-10	9150147	47230123	108040437	104	8919											
MAGEA12	4111	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	151900366	151900366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatcacaggaaagaaGtcctggaaatttctgatgac	10	7	2	5			TCGA-OR-A5KW-01A-11D-A29I-10	TCGA-OR-A5KW-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	67dfc56a-abc7-40c7-a901-6512ec38d5f5	804ec9eb-9f16-4ab9-b2dd-2abb72a53348	g.chrX:151900366G>A	ENST00000357916.4	-	2	590	c.435C>T	c.(433-435)gaC>gaT	p.D145D	CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.D145D|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.D145D|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	145	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAAAGAAGTCCTGGAAAT	0.507																																					p.D145D		.											.	MAGEA12-131	0			c.C435T						.						147	140	142					X																	151900366		2203	4300	6503	SO:0001819	synonymous_variant	4111	exon2			AAAGAAGTCCTGG		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.435C>T	X.37:g.151900366G>A		Somatic	680	0		WXS	Illumina GAIIx	Phase_I	539	39	NM_005367	0	0	0	0	0	Q9NSD3	Silent	SNP	ENST00000357916.4	37	CCDS14710.1																																																																																			.		0.507	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		A	151900366	G	A	151900366	2	1	38	1	0	0	0	0	0	0	0	1	9202	1020	36	3		3	MAGEA12	23	151900366	Silent	SNP	G	TCGA-OR-A5KW-01A-11D-A29I-10	104670243	151900366	3370194	105	8920											
ATP13A2	23400	bcgsc.ca	37	chr1	17326540	17326540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcaccatgcactcgccGgccaccagggcggcatcaca	9	17	3	0	rs56290406	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:17326540G>A	ENST00000326735.8	-	11	1038	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.A330A|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000452699.1_Silent_p.A330A			Q9NQ11	AT132_HUMAN	ATPase type 13A2	335					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)		TGCACTCGCCGGCCACCAGGG	0.662													g|||	174	0.0347444	0.084	0.0159	5008	,	,		10754	0		0.0398	False		,,,				2504	0.0123				p.A335A		.											.	ATP13A2-93	0			c.C1005T						.	A	,,	249,4155	136.1+/-172.1	4,241,1957	24	25	25		990,990,1005	-9.2	0.3	1	dbSNP_129	25	279,8321	100.3+/-161.8	3,273,4024	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	7,514,5981	AA,AG,GG		3.2442,5.654,4.0603	,,	330/1176,330/1159,335/1181	17326540	528,12476	2202	4300	6502	SO:0001819	synonymous_variant	23400	exon11			CTCGCCGGCCACC	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.1005C>T	1.37:g.17326540G>A		Somatic	130	1		WXS	Illumina GAIIx	Phase_I	100	6	NM_022089	0	0	5	5	0	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1	74	0.03388278388278388	38	0.07723577235772358	5	0.013812154696132596	0	0.0	31	0.040897097625329816	g	2.272	-0.366820	0.05069	0.05654	0.032442	ENSG00000159363	ENST00000510069	.	.	.	4.6	-9.19	0.00685	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57642	-0.7776	4	.	.	.	-6.9897	11.1112	0.48235	0.1813:0.0758:0.6331:0.1098	rs56290406	.	.	.	W	310	.	.	R	-	1	2	ATP13A2	17199127	0.000000	0.05858	0.300000	0.25030	0.240000	0.25518	-4.559000	0.00216	-2.724000	0.00387	-1.329000	0.01275	CGG	G|0.962;A|0.038		0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17326540	G	A	17326540	2	1	39	1	0	0	0	0	0	0	0	1	1125	1103	39	1		1	ATP13A2	1	17326540	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		17326540	231924081	1	8921											
SDHB	6390	bcgsc.ca	37	chr1	17371278	17371278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaggtcaacttcataagTctgcatatgaggtttgtctc	8	7	4	1	rs34599281	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:17371278T>C	ENST00000375499.3	-	2	328	c.178A>G	c.(178-180)Act>Gct	p.T60A	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	60	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	ACTTCATAAGTCTGCATATGA	0.463			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																												p.T60A		.	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	.	SDHB-658	0			c.A178G						.	T	ALA/THR	0,4406		0,0,2203	124	120	121		178	5.7	1	1	dbSNP_126	121	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDHB	NM_003000.2	58	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	60/281	17371278	2,13004	2203	4300	6503	SO:0001583	missense	6390	exon2	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;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	CATAAGTCTGCAT	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.178A>G	1.37:g.17371278T>C	ENSP00000364649:p.Thr60Ala	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_003000	0	0	73	73	0	B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	CCDS176.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460204	0.63401	0.0	2.33E-4	ENSG00000117118	ENST00000375499	D	0.98822	-5.16	5.65	5.65	0.86999	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	M	0.83312	2.635	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	D	0.96481	0.9356	10	0.66056	D	0.02	-20.9608	14.8428	0.70237	0.0:0.0:0.0:1.0	rs34599281	60	P21912	DHSB_HUMAN	A	60	ENSP00000364649:T60A	ENSP00000364649:T60A	T	-	1	0	SDHB	17243865	1.000000	0.71417	0.976000	0.42696	0.875000	0.50365	6.969000	0.76092	2.371000	0.80710	0.533000	0.62120	ACT	T|1.000;C|0.000		0.463	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		C	17371278	T	C	17371278	3	2	39	1	0	0	0	0	1	0	0	0	14010	1667	58	4	692	4	SDHB	1	17371278	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	44738	17371278	231879343	2	8922											
AKR7L	246181	bcgsc.ca	37	chr1	19600386	19600386	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccattcggagcccCaggccgccaaggatggtctc	12	16	1	0	rs112053480	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:19600386C>T	ENST00000429712.1	-	0	302				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						TTCGGAGCCCCAGGCCGCCAA	0.682													C|||	536	0.107029	0.2859	0.0764	5008	,	,		15326	0		0.0944	False		,,,				2504	0.0102				.		.											.	AKR7L-90	0			.						.	C		353,1027		53,247,390	34	40	38			3.2	1	1	dbSNP_132	38	305,2877		25,255,1311	no	intergenic				78,502,1701	TT,TC,CC		9.5852,25.5797,14.4235			19600386	658,3904	690	1591	2281			246181	.			GAGCCCCAGGCCG			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.19600386C>T		Somatic	403	3		WXS	Illumina GAIIx	Phase_I	297	12	.	0	0	0	0	0	Q5U614	RNA	SNP	ENST00000429712.1	37		237	0.10851648351648352	134	0.27235772357723576	31	0.0856353591160221	0	0.0	72	0.09498680738786279	C	1.618	-0.522172	0.04171	0.255797	0.095852	ENSG00000211454	ENST00000457194	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3012	0.60326	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	W	-	2	0	AKR7L	19472973	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.448000	0.60027	1.772000	0.52199	0.195000	0.17529	TGG	C|0.896;T|0.104		0.682	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		T	19600386	C	T	19600386	1	4	39	0	1	0	0	0	0	0	0	0	477	581	21	3		3	AKR7L	1	19600386	RNA	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	2229108	19600386	229650235	3	8923											
HDAC1	3065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32797321	32797321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgccgcacgcacctgGggtccaaatgcaggcgattc	12	13	0	0	rs1140658		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:32797321G>A	ENST00000373548.3	+	11	1217	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	HDAC1_ENST00000373541.2_Missense_Mutation_p.G185E|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	378					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|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)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|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)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CACGCACCTGGGGTCCAAATG	0.582																																					p.G378E		.											.	HDAC1-659	0			c.G1133A						.						96	92	94					1																	32797321		2203	4300	6503	SO:0001583	missense	3065	exon11			CACCTGGGGTCCA	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1133G>A	1.37:g.32797321G>A	ENSP00000362649:p.Gly378Glu	Somatic	190	1		WXS	Illumina GAIIx	Phase_I	130	80	NM_004964	0	0	31	77	46	Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338085	0.60963	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.74737	-0.87;-0.55	4.28	4.28	0.50868	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.84948	2.725	0.80722	D	1	B	0.24651	0.108	B	0.32342	0.144	T	0.82100	-0.0624	10	0.72032	D	0.01	-10.5477	17.6011	0.88025	0.0:0.0:1.0:0.0	.	378	Q13547	HDAC1_HUMAN	E	378;185	ENSP00000362649:G378E;ENSP00000362642:G185E	ENSP00000362642:G185E	G	+	2	0	HDAC1	32569908	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.770000	0.98971	2.330000	0.79161	0.563000	0.77884	GGG	G|1.000;|0.000		0.582	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		A	32797321	G	A	32797321	3	1	39	1	0	0	0	0	1	0	0	0	7031	1232	43	3	1175	3	HDAC1	1	32797321	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	13196935	32797321	216453300	4	8924											
SARS	6301	broad.mit.edu;bcgsc.ca	37	chr1	109772188	109772188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgtacccatcagtaaCgatgaggtaggtggctgtgc	12	10	2	1	rs574107646		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:109772188C>T	ENST00000234677.2	+	4	516	c.441C>T	c.(439-441)aaC>aaT	p.N147N	SARS_ENST00000369923.4_Silent_p.N147N	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	147					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCATCAGTAACGATGAGGTAG	0.577													C|||	1	0.000199681	0	0	5008	,	,		19401	0		0	False		,,,				2504	0.001				p.N147N		.											.	SARS-90	0			c.C441T						.						143	140	141					1																	109772188		2203	4300	6503	SO:0001819	synonymous_variant	6301	exon4			CAGTAACGATGAG	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.441C>T	1.37:g.109772188C>T		Somatic	204	1		WXS	Illumina GAIIx	Phase_I	166	10	NM_006513	0	0	0	0	0	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	CCDS795.1																																																																																			.		0.577	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		T	109772188	C	T	109772188	2	4	39	1	0	0	0	0	0	0	0	1	13889	535	19	1		1	SARS	1	109772188	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	76974867	109772188	139478433	5	8925											
KRTCAP2	200185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155141958	155141958	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgtgaccttggctggtgtGaggactggagctgctgcctg	16	10	0	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:155141958G>A	ENST00000473363.2	-	5	679	c.680C>T	c.(679-681)tCa>tTa	p.S227L	KRTCAP2_ENST00000295682.4_Silent_p.L149L|KRTCAP2_ENST00000490672.1_5'UTR																							TGGCTGGTGTGAGGACTGGAG	0.463																																					p.L149L		.											.	KRTCAP2-90	0			c.C447T						.						158	121	134					1																	155141958		2203	4300	6503	SO:0001583	missense	200185	exon5			TGGTGTGAGGACT																												ENST00000473363.2:c.680C>T	1.37:g.155141958G>A	ENSP00000477381:p.Ser227Leu	Somatic	271	0		WXS	Illumina GAIIx	Phase_I	260	170	NM_173852	0	0	107	333	226		Silent	SNP	ENST00000473363.2	37																																																																																				.		0.463	RP11-201K10.3-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000471530.1			A	155141958	G	A	155141958	3	1	39	1	0	0	0	0	1	0	0	0	8606	1277	45	3	45	3	KRTCAP2	1	155141958	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	45369770	155141958	94108663	6	8926											
TOR1AIP2	163590	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	179816744	179816745	+	Frame_Shift_Del	DEL	TG	TG	-													ctttaatttcttccaattttTgtgtttgttgtggatgactt							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:179816744_179816745delTG	ENST00000367612.3	-	5	967_968	c.580_581delCA	c.(580-582)caafs	p.Q194fs	TOR1AIP2_ENST00000609928.1_Frame_Shift_Del_p.Q194fs	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTCCAATTTTTGTGTTTGTTGT	0.361																																					p.194_194del		.											.	TOR1AIP2-69	0			c.580_581del						.																																			SO:0001589	frameshift_variant	163590	exon6			AATTTTTGTGTTT		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.580_581delCA	1.37:g.179816746_179816747delTG	ENSP00000356584:p.Gln194fs	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	94	15	NM_001199260	0	0	0	0	0	Q05BU2	Frame_Shift_Del	DEL	ENST00000367612.3	37	CCDS1334.1																																																																																			.		0.361	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		-	179816745	TG	-	179816744	7	5	39	1	0	1	0	1	0	0	0	0	16421	1812	63	0	839	0	TOR1AIP2	1	179816744	Frame_Shift_Del	DEL	TG	TCGA-OR-A5KX-01A-11D-A29I-10	24674786	179816744	69433877	7	8927											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	39	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	21064234	200880978	48369643	8	8928											
CENPF	1063	hgsc.bcm.edu;bcgsc.ca	37	chr1	214814882	214814883	+	Frame_Shift_Ins	INS	-	-	A													ctagtctttgtgaaaataggINSaaaaatgagttggaacagct							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:214814882_214814883insA	ENST00000366955.3	+	12	3369_3370	c.3201_3202insA	c.(3202-3204)aaafs	p.K1068fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGAAAATAGGAAAAATGAGTT	0.332																																					p.R1067fs	Colon(80;575 1284 11000 14801 43496)	.											.	CENPF-567	0			c.3201_3202insA						.																																			SO:0001589	frameshift_variant	1063	exon12			AAATAGGAAAAAT	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.3206dupA	1.37:g.214814887_214814887dupA	ENSP00000355922:p.Lys1068fs	Somatic	244	2		WXS	Illumina GAIIx	Phase_I	221	149	NM_016343	0	0	0	0	0	Q13171|Q13246|Q5VVM7	Frame_Shift_Ins	INS	ENST00000366955.3	37	CCDS31023.1																																																																																			.		0.332	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		A	214814883	-	A	214814882	7	5	39	1	0	1	1	0	0	0	0	0	3238	1165	41	0	3243	0	CENPF	1	214814882	Frame_Shift_Ins	INS	-	TCGA-OR-A5KX-01A-11D-A29I-10	13933904	214814882	34435739	9	8929											
SLC30A10	55532	broad.mit.edu	37	chr1	220101143	220101143	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcaaccgaaaggcacCtgctacgtttgcgaacacgg	12	11	0	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:220101143C>T	ENST00000366926.3	-	1	801	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	SLC30A10_ENST00000536992.1_Splice_Site_p.E214K|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	214					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CGAAAGGCACCTGCTACGTTT	0.632																																					p.G214S	Colon(76;360 1614 43677 51136)	.											.	SLC30A10-90	0			c.G640A						.						18	16	17					1																	220101143		2184	4252	6436	SO:0001630	splice_region_variant	55532	exon1			AGGCACCTGCTAC	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.640+1G>A	1.37:g.220101143C>T		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	106	5	NM_018713	0	0	0	0	0	Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	CCDS31026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.968055|2.968055	0.53507|0.53507	.|.	.|.	ENSG00000196660|ENSG00000196660	ENST00000536992|ENST00000366926	T|T	0.77750|0.64991	-1.12|-0.13	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.000000	.|0.51477	.|D	.|0.000084	T|T	0.51227|0.51227	0.1662|0.1662	N|N	0.05280|0.05280	-0.08|-0.08	0.25381|0.25381	N|N	0.988612|0.988612	.|D	.|0.53745	.|0.962	.|P	.|0.53450	.|0.726	T|T	0.48139|0.48139	-0.9061|-0.9061	6|9	.|.	.|.	.|.	-15.4631|-15.4631	14.2673|14.2673	0.66126|0.66126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|214	.|Q6XR72	.|ZNT10_HUMAN	K|S	214|214	ENSP00000440627:E214K|ENSP00000355893:G214S	.|.	E|G	-|-	1|1	0|0	SLC30A10|SLC30A10	218167766|218167766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.035000|0.035000	0.12851|0.12851	4.870000|4.870000	0.63035|0.63035	2.150000|2.150000	0.67090|0.67090	0.655000|0.655000	0.94253|0.94253	GAA|GGT	.		0.632	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713	Missense_Mutation	T	220101143	C	T	220101143	5	4	39	1	0	0	0	0	0	0	1	0	14599	695	24	3	833	3	SLC30A10	1	220101143	Splice_Site	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	5286261	220101143	29149478	10	8930											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228561682	228561682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagccaggccttgcttccttCcggctctcaggtctgaagag	11	13	2	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:228561682C>T	ENST00000422127.1	+	95	22397	c.22353C>T	c.(22351-22353)ttC>ttT	p.F7451F	OBSCN_ENST00000570156.2_Silent_p.F8408F|OBSCN_ENST00000366707.4_Silent_p.F5085F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7451					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)				TTGCTTCCTTCCGGCTCTCAG	0.657																																					p.F8408F		.											.	OBSCN-403	0			c.C25224T						.						13	15	15					1																	228561682		1878	4004	5882	SO:0001819	synonymous_variant	84033	exon106			TTCCTTCCGGCTC	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.22353C>T	1.37:g.228561682C>T		Somatic	339	0		WXS	Illumina GAIIx	Phase_I	345	83	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	8.282	0.815807	0.16607	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.9	1.96	0.26148	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	.	4.7466	0.13040	0.1706:0.6451:0.0:0.1843	.	.	.	.	S	2068	.	.	P	+	1	0	OBSCN	226628305	0.008000	0.16893	0.975000	0.42487	0.067000	0.16453	0.217000	0.17603	0.208000	0.20626	-0.379000	0.06801	CCG	.		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228561682	C	T	228561682	2	4	39	1	0	0	0	0	0	0	0	1	10851	854	30	3		3	OBSCN	1	228561682	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	8460539	228561682	20688939	11	8931											
KMO	8564	broad.mit.edu	37	chr1	241752063	241752063	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggtttgtgtcttccTgtgttctcaagattgagaat	9	7	2	2	rs144089555	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:241752063T>G	ENST00000366559.4	+	12	1340	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	KMO_ENST00000366557.4_Silent_p.P343P|KMO_ENST00000366558.3_Silent_p.P343P	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGTGTCTTCCTGTGTTCTCAA	0.368																																					p.P343P		.											.	KMO-92	0			c.T1029G						.	T		1,4405	2.1+/-5.4	0,1,2202	190	176	180		1029	-1.1	1	1	dbSNP_134	180	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	KMO	NM_003679.3		0,9,6494	GG,GT,TT		0.093,0.0227,0.0692		343/487	241752063	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	8564	exon12			TCTTCCTGTGTTC	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1029T>G	1.37:g.241752063T>G		Somatic	110	2		WXS	Illumina GAIIx	Phase_I	99	4	NM_003679	0	0	0	0	0		Silent	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	T	2.157	-0.393209	0.04899	2.27E-4	9.3E-4	ENSG00000117009	ENST00000366555	.	.	.	5.82	-1.1	0.09872	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	0.6397	0.00808	0.2637:0.1515:0.1368:0.448	.	.	.	.	G	29	.	.	C	+	1	0	KMO	239818686	0.393000	0.25237	0.997000	0.53966	0.197000	0.23852	-0.599000	0.05700	-0.112000	0.11979	-0.297000	0.09499	TGT	T|0.999;G|0.001		0.368	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		G	241752063	T	G	241752063	2	3	39	1	0	0	0	0	0	0	0	1	8451	1567	55	5		5	KMO	1	241752063	Silent	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	13190381	241752063	7498558	12	8932											
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	245851927	245851927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcggggagctcccgcCggccatggggaagacggccc	18	14	0	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr1:245851927C>T	ENST00000407071.2	+	12	6082	c.5642C>T	c.(5641-5643)cCg>cTg	p.P1881L	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1500L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1881					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCCGCCGGCCATGGGG	0.731																																					p.P1881L		.											.	KIF26B-25	0			c.C5642T						.						6	7	7					1																	245851927		1941	3991	5932	SO:0001583	missense	55083	exon12			TCCCGCCGGCCAT	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5642C>T	1.37:g.245851927C>T	ENSP00000385545:p.Pro1881Leu	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	51	44	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790178	0.90367	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.82893	-1.66;-1.66	5.18	5.18	0.71444	.	.	.	.	.	D	0.91791	0.7403	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.974;0.983	D	0.92945	0.6375	9	0.87932	D	0	.	18.6823	0.91551	0.0:1.0:0.0:0.0	.	1500;1881	B7WPD9;Q2KJY2	.;KI26B_HUMAN	L	1881;1500;1497	ENSP00000385545:P1881L;ENSP00000355475:P1500L	ENSP00000355475:P1500L	P	+	2	0	KIF26B	243918550	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.618000	0.83043	2.409000	0.81822	0.462000	0.41574	CCG	.		0.731	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245851927	C	T	245851927	3	4	39	1	0	0	0	0	1	0	0	0	8322	652	23	1	5688	1	KIF26B	1	245851927	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	4099864	245851927	3398694	13	8933											
SH2D6	284948	bcgsc.ca	37	chr2	85662863	85662864	+	Frame_Shift_Ins	INS	-	-	GGCCGGGTCTTCAACAT													ccctggcagtgcttctccgaINSggccgggtcttcaacattcc							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr2:85662863_85662864insGGCCGGGTCTTCAACAT	ENST00000340326.2	+	3	488_489	c.327_328insGGCCGGGTCTTCAACAT	c.(328-330)ggcfs	p.-110fs	SH2D6_ENST00000481426.2_3'UTR|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Frame_Shift_Ins_p.-78fs	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6											central_nervous_system(1)|lung(2)	3						TGCTTCTCCGAGGCCGGGTCTT	0.673																																					p.R109fs		.											.	SH2D6-226	0			c.327_328insGGCCGGGTCTTCAACAT						.																																			SO:0001589	frameshift_variant	284948	exon3			TCTCCGAGGCCGG	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.328_344dupGGCCGGGTCTTCAACAT	2.37:g.85662863_85662864insGGCCGGGTCTTCAACAT	ENSP00000341867:p.Gly110fs	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	59	6	NM_198482	0	0	0	0	0	A6ND14|Q6R306	Frame_Shift_Ins	INS	ENST00000340326.2	37	CCDS1976.1																																																																																			.		0.673	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		GGCCGGGTCTTCAACAT	85662864	-	GGCCGGGTCTTCAACAT	85662863	7	5	39	1	0	1	1	0	0	0	0	0	14283	291	11	0	337	0	SH2D6	2	85662863	Frame_Shift_Ins	INS	-	TCGA-OR-A5KX-01A-11D-A29I-10		85662863	157536510	14	8934											
MARCH4	57574	broad.mit.edu;bcgsc.ca	37	chr2	217124172	217124172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggcctgaggggtggcCggcagcctgggcagggccct	20	12	0	2	rs370447341		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr2:217124172C>T	ENST00000273067.4	-	4	2862	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	366						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGGGGTGGCCGGCAGCCTGG	0.642																																					p.G366S		.											.	MARCH4-69	0			c.G1096A						.	C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	54	57	56		1096	-1.2	0.9	2		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	MARCH4	NM_020814.2	56	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	366/411	217124172	3,13003	2203	4300	6503	SO:0001583	missense	57574	exon4			GGTGGCCGGCAGC	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1096G>A	2.37:g.217124172C>T	ENSP00000273067:p.Gly366Ser	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	199	7	NM_020814	0	0	0	0	0	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	0.198	-1.046933	0.01997	4.54E-4	1.16E-4	ENSG00000144583	ENST00000273067	T	0.13901	2.55	5.47	-1.23	0.09465	.	1.203180	0.05391	N	0.539034	T	0.06690	0.0171	N	0.10874	0.06	0.20196	N	0.999929	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	10	0.02654	T	1	4.0733	10.7449	0.46175	0.0:0.4748:0.0:0.5252	.	366	Q9P2E8	MARH4_HUMAN	S	366	ENSP00000273067:G366S	ENSP00000273067:G366S	G	-	1	0	MARCH4	216832417	1.000000	0.71417	0.911000	0.35937	0.149000	0.21700	1.153000	0.31676	-0.200000	0.10300	-1.267000	0.01435	GGC	.		0.642	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		T	217124172	C	T	217124172	3	4	39	1	0	0	0	0	1	0	0	0	9341	652	23	1	140	1	MARCH4	2	217124172	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	131461309	217124172	26075201	15	8935											
ACSL3	2181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	223789243	223789243	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgagtagttttcaacgtaatCtgtttattctggcctataat	7	6	3	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr2:223789243C>G	ENST00000357430.3	+	11	1753	c.1222C>G	c.(1222-1224)Ctg>Gtg	p.L408V	ACSL3_ENST00000392066.3_Missense_Mutation_p.L408V	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	408					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)	TCAACGTAATCTGTTTATTCT	0.333			T	ETV1	prostate																																p.L408V		.		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	ACSL3-228	0			c.C1222G						.						94	91	92					2																	223789243		2203	4299	6502	SO:0001583	missense	2181	exon10			CGTAATCTGTTTA	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.1222C>G	2.37:g.223789243C>G	ENSP00000350012:p.Leu408Val	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	381	83	NM_203372	0	0	7	7	0	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542793	0.65198	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.74632	1.05;1.05;-0.86	5.78	1.63	0.23807	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	M	0.69523	2.12	0.80722	D	1	D	0.62365	0.991	D	0.72075	0.976	T	0.80513	-0.1349	10	0.66056	D	0.02	-9.4264	9.2834	0.37742	0.0:0.671:0.0:0.329	.	408	O95573	ACSL3_HUMAN	V	408;408;178	ENSP00000350012:L408V;ENSP00000375918:L408V;ENSP00000404182:L178V	ENSP00000350012:L408V	L	+	1	2	ACSL3	223497487	0.981000	0.34729	0.699000	0.30290	0.934000	0.57294	1.616000	0.36933	0.271000	0.22005	-0.186000	0.12905	CTG	.		0.333	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		G	223789243	C	G	223789243	3	3	39	1	0	0	0	0	1	0	0	0	178	912	32	3	1252	3	ACSL3	2	223789243	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	6665071	223789243	19410130	16	8936											
MFF	56947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228195447	228195447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattagtcagcgaatgagGgtcccagaaaagttaaaagt	12	6	1	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr2:228195447G>A	ENST00000353339.3	+	4	585	c.144G>A	c.(142-144)agG>agA	p.R48R	MFF_ENST00000337110.7_Silent_p.R22R|MFF_ENST00000409616.1_Silent_p.R22R|MFF_ENST00000349901.7_Silent_p.R22R|MFF_ENST00000476924.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Silent_p.R22R|MFF_ENST00000304593.9_Silent_p.R22R|MFF_ENST00000354503.6_Silent_p.R22R|MFF_ENST00000392059.1_Silent_p.R48R	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	48					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R48S(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGCGAATGAGGGTCCCAGAAA	0.463																																					p.R48R		.											.	MFF-153	1	Substitution - Missense(1)	lung(1)	c.G144A						.						93	79	84					2																	228195447		2203	4300	6503	SO:0001819	synonymous_variant	56947	exon4			AATGAGGGTCCCA	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.144G>A	2.37:g.228195447G>A		Somatic	319	0		WXS	Illumina GAIIx	Phase_I	420	69	NM_020194	0	0	59	75	16	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	CCDS2465.1																																																																																			.		0.463	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		A	228195447	G	A	228195447	2	1	39	1	0	0	0	0	0	0	0	1	9557	1223	43	3		3	MFF	2	228195447	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	4406204	228195447	15003926	17	8937											
CHCHD4	131474	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	14154643	14154644	+	Frame_Shift_Del	DEL	CC	CC	-													cacagggaccgctggccattCccccaaggcatgggcagttc							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:14154643_14154644delCC	ENST00000396914.3	-	3	353_354	c.172_173delGG	c.(172-174)ggafs	p.G58fs	CHCHD4_ENST00000295767.5_Frame_Shift_Del_p.G71fs	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	58	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GCTGGCCATTCCCCCAAGGCAT	0.46																																					p.71_71del		.											.	CHCHD4-90	0			c.211_212del						.																																			SO:0001589	frameshift_variant	131474	exon4			GCCATTCCCCCAA	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.172_173delGG	3.37:g.14154645_14154646delCC	ENSP00000380122:p.Gly58fs	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	228	0	NM_144636	0	0	0	0	0	A8K3Z9|Q96AI2|Q96MY6	Frame_Shift_Del	DEL	ENST00000396914.3	37	CCDS43054.1																																																																																			.		0.46	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		-	14154644	CC	-	14154643	7	5	39	1	0	1	0	1	0	0	0	0	3325	855	30	0	259	0	CHCHD4	3	14154643	Frame_Shift_Del	DEL	CC	TCGA-OR-A5KX-01A-11D-A29I-10		14154643	183867787	18	8938											
DCP1A	55802	broad.mit.edu;bcgsc.ca	37	chr3	53326623	53326623	+	Frame_Shift_Del	DEL	C	C	-													tagcaccggggtggtgatttCaggctggactgaatggtggg							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:53326623delC	ENST00000607628.1	-	7	968	c.859delG	c.(859-861)gaafs	p.E287fs	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Frame_Shift_Del_p.E287fs|DCP1A_ENST00000606822.1_Frame_Shift_Del_p.E249fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTGGTGATTTCAGGCTGGACT	0.532																																					p.E287fs		.											.	DCP1A-90	0			c.859delG						.						64	70	68					3																	53326623		2017	4189	6206	SO:0001589	frameshift_variant	55802	exon7			TGATTTCAGGCTG	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.859delG	3.37:g.53326623delC	ENSP00000475920:p.Glu287fs	Somatic	232	0		WXS	Illumina GAIIx	Phase_I	342	36	NM_018403	0	0	0	0	0	B4DHN9|U3KQM8	Frame_Shift_Del	DEL	ENST00000607628.1	37																																																																																				.		0.532	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		-	53326623	C	-	53326623	7	5	39	1	0	1	0	1	0	0	0	0	4307	835	29	0	905	0	DCP1A	3	53326623	Frame_Shift_Del	DEL	C	TCGA-OR-A5KX-01A-11D-A29I-10	39171980	53326623	144695807	19	8939	81	5									
DCP1A	55802	broad.mit.edu;bcgsc.ca	37	chr3	53326625	53326625	+	Frame_Shift_Del	DEL	G	G	-													gcaccggggtggtgatttcaGgctggactgaatggtgggca							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:53326625delG	ENST00000607628.1	-	7	966	c.857delC	c.(856-858)cctfs	p.P286fs	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Frame_Shift_Del_p.P286fs|DCP1A_ENST00000606822.1_Frame_Shift_Del_p.P248fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	286					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGTGATTTCAGGCTGGACTGA	0.527																																					p.P286fs		.											.	DCP1A-90	0			c.857delC						.						65	70	69					3																	53326625		2016	4184	6200	SO:0001589	frameshift_variant	55802	exon7			ATTTCAGGCTGGA	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.857delC	3.37:g.53326625delG	ENSP00000475920:p.Pro286fs	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	314	36	NM_018403	0	0	0	0	0	B4DHN9|U3KQM8	Frame_Shift_Del	DEL	ENST00000607628.1	37																																																																																				.		0.527	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		-	53326625	G	-	53326625	7	5	39	1	0	1	0	1	0	0	0	0	4307	1000	35	0	907	0	DCP1A	3	53326625	Frame_Shift_Del	DEL	G	TCGA-OR-A5KX-01A-11D-A29I-10	2	53326625	144695805	20	8940	81	5									
DCP1A	55802	broad.mit.edu;bcgsc.ca	37	chr3	53326628	53326628	+	Frame_Shift_Del	DEL	T	T	-													ccggggtggtgatttcaggcTggactgaatggtgggcagca							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:53326628delT	ENST00000607628.1	-	7	963	c.854delA	c.(853-855)cagfs	p.Q285fs	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Frame_Shift_Del_p.Q285fs|DCP1A_ENST00000606822.1_Frame_Shift_Del_p.Q247fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	285					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GATTTCAGGCTGGACTGAATG	0.522																																					p.Q285fs		.											.	DCP1A-90	0			c.854delA						.						63	69	67					3																	53326628		2009	4181	6190	SO:0001589	frameshift_variant	55802	exon7			TCAGGCTGGACTG	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.854delA	3.37:g.53326628delT	ENSP00000475920:p.Gln285fs	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	306	36	NM_018403	0	0	0	0	0	B4DHN9|U3KQM8	Frame_Shift_Del	DEL	ENST00000607628.1	37																																																																																				.		0.522	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		-	53326628	T	-	53326628	7	5	39	1	0	1	0	1	0	0	0	0	4307	1580	55	0	910	0	DCP1A	3	53326628	Frame_Shift_Del	DEL	T	TCGA-OR-A5KX-01A-11D-A29I-10	3	53326628	144695802	21	8941	81	5									
DCP1A	55802	broad.mit.edu;bcgsc.ca	37	chr3	53326631	53326632	+	Frame_Shift_Ins	INS	-	-	GG													ggtggtgatttcaggctggaINSctgaatggtgggcagcagaa							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:53326631_53326632insGG	ENST00000607628.1	-	7	959_960	c.850_851insCC	c.(850-852)gtcfs	p.V284fs	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Frame_Shift_Ins_p.V284fs|DCP1A_ENST00000606822.1_Frame_Shift_Ins_p.V246fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	284					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTCAGGCTGGACTGAATGGTGG	0.525																																					p.V284fs		.											.	DCP1A-90	0			c.851_852insCC						.																																			SO:0001589	frameshift_variant	55802	exon7			GGCTGGACTGAAT	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.850_851insCC	3.37:g.53326631_53326632insGG	ENSP00000475920:p.Val284fs	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	294	0	NM_018403	0	0	0	0	0	B4DHN9|U3KQM8	Frame_Shift_Ins	INS	ENST00000607628.1	37																																																																																				.		0.525	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		GG	53326632	-	GG	53326631	7	5	39	1	0	1	1	0	0	0	0	0	4307	275	10	0	913	0	DCP1A	3	53326631	Frame_Shift_Ins	INS	-	TCGA-OR-A5KX-01A-11D-A29I-10	3	53326631	144695799	22	8942	81	5									
DCP1A	55802	broad.mit.edu;bcgsc.ca	37	chr3	53326635	53326635	+	Frame_Shift_Del	DEL	A	A	-													ggtgatttcaggctggactgAatggtgggcagcagaaggga							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:53326635delA	ENST00000607628.1	-	7	956	c.847delT	c.(847-849)tcafs	p.S283fs	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Frame_Shift_Del_p.S283fs|DCP1A_ENST00000606822.1_Frame_Shift_Del_p.S245fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	283					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGCTGGACTGAATGGTGGGCA	0.532																																					p.S283fs		.											.	DCP1A-90	0			c.847delT						.						64	69	68					3																	53326635		2001	4180	6181	SO:0001589	frameshift_variant	55802	exon7			GGACTGAATGGTG	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.847delT	3.37:g.53326635delA	ENSP00000475920:p.Ser283fs	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	288	35	NM_018403	0	0	0	0	0	B4DHN9|U3KQM8	Frame_Shift_Del	DEL	ENST00000607628.1	37																																																																																				.		0.532	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		-	53326635	A	-	53326635	7	5	39	1	0	1	0	1	0	0	0	0	4307	246	9	0	917	0	DCP1A	3	53326635	Frame_Shift_Del	DEL	A	TCGA-OR-A5KX-01A-11D-A29I-10	4	53326635	144695795	23	8943	81	5									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	39	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	13224121	66550756	131471674	24	8944	82	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	39	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	6	66550762	131471668	25	8945	82	2									
CCDC54	84692	bcgsc.ca	37	chr3	107096547	107096547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccacaaatgtaagattcGgcaccaagattcaactggat	7	9	1	2	rs709564	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:107096547G>A	ENST00000261058.1	+	1	360	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	38			R -> Q (in dbSNP:rs709564). {ECO:0000269|PubMed:15489334}.							NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TGTAAGATTCGGCACCAAGAT	0.403													G|||	2500	0.499201	0.3442	0.5216	5008	,	,		21589	0.8919		0.2545	False		,,,				2504	0.5399				p.R38Q		.											.	CCDC54-90	0			c.G113A						.	G	GLN/ARG	1442,2964	469.4+/-355.4	262,918,1023	138	138	138		113	-1	0	3	dbSNP_86	138	2032,6568	354.9+/-329.7	241,1550,2509	yes	missense	CCDC54	NM_032600.2	43	503,2468,3532	AA,AG,GG		23.6279,32.7281,26.7107	benign	38/329	107096547	3474,9532	2203	4300	6503	SO:0001583	missense	84692	exon1			AGATTCGGCACCA	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.113G>A	3.37:g.107096547G>A	ENSP00000261058:p.Arg38Gln	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	161	6	NM_032600	0	0	0	0	0	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	1018	0.4661172161172161	154	0.3130081300813008	163	0.45027624309392267	507	0.8863636363636364	194	0.2559366754617414	G	0.008	-1.878422	0.00537	0.327281	0.236279	ENSG00000138483	ENST00000261058	T	0.41065	1.01	5.44	-1.05	0.10036	.	1.036590	0.07686	N	0.937852	T	0.00012	0.0000	N	0.05280	-0.08	0.80722	P	0.0	B	0.12630	0.006	B	0.08055	0.003	T	0.28618	-1.0038	9	0.11794	T	0.64	1.0994	8.8703	0.35311	0.515:0.0:0.485:0.0	rs709564;rs17845930;rs17858909;rs52834280;rs60910251;rs709564	38	Q8NEL0	CCD54_HUMAN	Q	38	ENSP00000261058:R38Q	ENSP00000261058:R38Q	R	+	2	0	CCDC54	108579237	0.000000	0.05858	0.045000	0.18777	0.112000	0.19704	-0.131000	0.10482	-0.180000	0.10637	-0.482000	0.04802	CGG	G|0.632;A|0.368		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		A	107096547	G	A	107096547	3	1	39	1	0	0	0	0	1	0	0	0	2831	1116	39	1	115	1	CCDC54	3	107096547	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	40545785	107096547	90925883	26	8946											
PVRL3	25945	broad.mit.edu;bcgsc.ca	37	chr3	110831005	110831005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggagaagatacatggcAaaagttcacagactgttgca	11	7	1	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:110831005A>G	ENST00000485303.1	+	2	564	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	PVRL3_ENST00000493615.1_Missense_Mutation_p.K74E|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.K97E	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	97	Ig-like V-type.				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						GATACATGGCAAAAGTTCACA	0.368																																					p.K97E		.											.	PVRL3-92	0			c.A289G						.						89	84	86					3																	110831005		2203	4300	6503	SO:0001583	missense	25945	exon2			CATGGCAAAAGTT	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.289A>G	3.37:g.110831005A>G	ENSP00000418070:p.Lys97Glu	Somatic	418	0		WXS	Illumina GAIIx	Phase_I	455	16	NM_001243286	0	0	0	0	0	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.955075|3.955075	0.73902|0.73902	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766|ENST00000486596	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	5.84|5.84	4.69|4.69	0.59074|0.59074	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.154140|.	0.56097|.	D|.	0.000027|.	T|T	0.47507|0.47507	0.1449|0.1449	L|L	0.33293|0.33293	1|1	0.33238|0.33238	D|D	0.556795|0.556795	D;P|.	0.58268|.	0.982;0.897|.	P;P|.	0.60117|.	0.869;0.675|.	T|T	0.57051|0.57051	-0.7877|-0.7877	10|5	0.07990|.	T|.	0.79|.	.|.	11.3294|11.3294	0.49467|0.49467	0.837:0.163:0.0:0.0|0.837:0.163:0.0:0.0	.|.	74;97|.	E9PFR0;Q9NQS3|.	.;PVRL3_HUMAN|.	E|R	50;97;97;74;82|96	ENSP00000418327:K50E;ENSP00000418070:K97E;ENSP00000321514:K97E;ENSP00000420579:K74E;ENSP00000420479:K82E|.	ENSP00000321514:K97E|.	K|Q	+|+	1|2	0|0	PVRL3|PVRL3	112313695|112313695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.505000|3.505000	0.53356|0.53356	1.032000|1.032000	0.39892|0.39892	0.533000|0.533000	0.62120|0.62120	AAA|CAA	.		0.368	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		G	110831005	A	G	110831005	3	3	39	1	0	0	0	0	1	0	0	0	12886	131	5	4	295	4	PVRL3	3	110831005	Missense_Mutation	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	3734458	110831005	87191425	27	8947											
H1FOO	132243	bcgsc.ca	37	chr3	129266431	129266431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctccgcttcaagtacCtgctgaagcaggcgctggcc	11	15	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:129266431C>A	ENST00000324382.2	+	2	291	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	H1FOO_ENST00000503977.1_5'Flank	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	96	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CTTCAAGTACCTGCTGAAGCA	0.647																																					p.L96M		.											.	H1FOO-91	0			c.C286A						.						20	13	15					3																	129266431		2073	4112	6185	SO:0001583	missense	132243	exon2			AAGTACCTGCTGA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"Histones / Replication-independent"	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.286C>A	3.37:g.129266431C>A	ENSP00000319799:p.Leu96Met	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	75	4	NM_153833	0	0	0	0	0	Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543264	0.65198	.	.	ENSG00000178804	ENST00000324382	T	0.24908	1.83	5.32	2.39	0.29439	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.168725	0.40728	N	0.001039	T	0.38852	0.1056	L	0.58510	1.815	0.80722	D	1	D	0.54772	0.968	D	0.67725	0.953	T	0.17471	-1.0368	10	0.62326	D	0.03	-15.2014	5.7656	0.18225	0.1412:0.6346:0.0:0.2243	.	96	Q8IZA3	H1FOO_HUMAN	M	96	ENSP00000319799:L96M	ENSP00000319799:L96M	L	+	1	2	H1FOO	130749121	0.995000	0.38212	1.000000	0.80357	0.959000	0.62525	0.207000	0.17395	1.249000	0.43950	0.655000	0.94253	CTG	.		0.647	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		A	129266431	C	A	129266431	3	1	39	1	0	0	0	0	1	0	0	0	6949	680	24	3	292	3	H1FOO	3	129266431	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	18435426	129266431	68755999	28	8948											
SMC4	10051	broad.mit.edu;bcgsc.ca	37	chr3	160148531	160148531	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaatacaaatgctgcagaGgtatgagttgctttgtattg	11	4	0	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr3:160148531G>C	ENST00000357388.3	+	19	3391	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Splice_Site_p.E980D|SMC4_ENST00000469762.1_Splice_Site_p.E955D|SMC4_ENST00000360111.2_Splice_Site_p.E980D|SMC4_ENST00000344722.5_Splice_Site_p.E980D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	980					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)			ATGCTGCAGAGGTATGAGTTG	0.403																																					p.E980D		.											.	SMC4-291	0			c.G2940C						.						74	80	78					3																	160148531		2203	4300	6503	SO:0001630	splice_region_variant	10051	exon18			TGCAGAGGTATGA	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.2940+1G>C	3.37:g.160148531G>C		Somatic	389	0		WXS	Illumina GAIIx	Phase_I	337	13	NM_005496	0	0	1	2	1	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054279	0.55218	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;T;D;D	0.84800	-1.9;-1.73;-1.08;-1.73;-1.9	4.88	4.88	0.63580	RecF/RecN/SMC (1);	0.045214	0.85682	D	0.000000	D	0.90508	0.7026	M	0.77313	2.365	0.80722	D	1	D;B;P;P	0.89917	1.0;0.05;0.773;0.858	D;B;P;P	0.73708	0.981;0.128;0.552;0.532	D	0.89002	0.3422	10	0.37606	T	0.19	-16.3822	9.925	0.41487	0.095:0.0:0.905:0.0	.	980;955;955;980	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	D	980;980;955;980;980;574	ENSP00000349961:E980D;ENSP00000353225:E980D;ENSP00000417964:E955D;ENSP00000420734:E980D;ENSP00000341382:E980D	ENSP00000341382:E980D	E	+	3	2	SMC4	161631225	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.127000	0.50484	2.662000	0.90505	0.585000	0.79938	GAG	.		0.403	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Missense_Mutation	C	160148531	G	C	160148531	5	2	39	1	0	0	0	0	0	0	1	0	14830	1014	35	3	3010	3	SMC4	3	160148531	Splice_Site	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	30882100	160148531	37873899	29	8949											
ATP10D	57205	bcgsc.ca	37	chr4	47578971	47578971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaactgcctgaactttacaGaagtggtcagaaatcagagg	11	8	2	4	rs16851681	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr4:47578971G>A	ENST00000273859.3	+	19	3817	c.3548G>A	c.(3547-3549)aGa>aAa	p.R1183K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1183			R -> K (in dbSNP:rs16851681).		cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAACTTTACAGAAGTGGTCAG	0.428													A|||	1412	0.281949	0.3707	0.3487	5008	,	,		20469	0.2004		0.2575	False		,,,				2504	0.2239				p.R1183K		.											.	ATP10D-93	0			c.G3548A						.	A	LYS/ARG	1516,2890	674.8+/-403.0	244,1028,931	95	88	90		3548	-6	0	4	dbSNP_123	90	2003,6597	722.2+/-406.4	232,1539,2529	yes	missense	ATP10D	NM_020453.3	26	476,2567,3460	AA,AG,GG		23.2907,34.4076,27.0567	benign	1183/1427	47578971	3519,9487	2203	4300	6503	SO:0001583	missense	57205	exon19			TTTACAGAAGTGG	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3548G>A	4.37:g.47578971G>A	ENSP00000273859:p.Arg1183Lys	Somatic	223	1		WXS	Illumina GAIIx	Phase_I	200	7	NM_020453	0	0	3	3	0	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	657	0.3008241758241758	198	0.4024390243902439	134	0.3701657458563536	123	0.21503496503496503	202	0.26649076517150394	A	0.090	-1.169224	0.01660	0.344076	0.232907	ENSG00000145246	ENST00000273859	T	0.75154	-0.91	5.21	-5.96	0.02234	.	0.669752	0.15504	N	0.258904	T	0.00012	0.0000	N	0.05441	-0.05	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.13229	-1.0517	9	0.02654	T	1	-2.1125	2.5327	0.04707	0.2771:0.1853:0.3696:0.168	rs16851681;rs52806274;rs61423063;rs16851681	1183	Q9P241	AT10D_HUMAN	K	1183	ENSP00000273859:R1183K	ENSP00000273859:R1183K	R	+	2	0	ATP10D	47273728	0.000000	0.05858	0.029000	0.17559	0.460000	0.32559	-0.312000	0.08113	-1.293000	0.02362	-1.322000	0.01289	AGA	G|0.728;A|0.272		0.428	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47578971	G	A	47578971	3	1	39	1	0	0	0	0	1	0	0	0	1119	942	33	3	3618	3	ATP10D	4	47578971	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		47578971	143575305	30	8950											
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537213	+	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-													agtgaaagcagtgatagcagTgacagcagcaatagcagtga					rs529175881|rs563891927|rs151217478|rs201186956|rs201078954|rs551655835|rs199799532|rs201754564|rs376726974|rs551176886|rs536124533|rs374679002|rs367717407|rs531156875|rs370267258|rs200796238|rs200745922|rs373236680|rs373805744|rs553101049|rs372453629|rs201399566|rs553323131|rs199671813|rs534854783|rs143067236|rs376515601|rs369973717|rs368984442|rs200276196	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr4:88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENST00000282478.7	+	4	3297_3432	c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	c.(3262-3399)agtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtfs	p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs	DSPP_ENST00000399271.1_Frame_Shift_Del_p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtgatagcagtg	0.554																																					p.1088_1133del		.											.	DSPP-90	0			c.3264_3399del						.																																			SO:0001589	frameshift_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	4.37:g.88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENSP00000282478:p.Ser1088fs	Somatic	444	0		WXS	Illumina GAIIx	Phase_I	406	0	NM_014208	0	0	0	0	0	A8MUI0|O95815	Frame_Shift_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.554	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537213	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	88537078	7	5	39	1	0	1	0	1	0	0	0	0	4796	1693	59	0	3278	0	DSPP	4	88537078	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TCGA-OR-A5KX-01A-11D-A29I-10	40958107	88537078	102617198	31	8951											
SLC45A2	51151	broad.mit.edu;bcgsc.ca	37	chr5	33944896	33944896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggatctgagccagctGcaccatgcatgtgagggtgg	15	10	1	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr5:33944896G>A	ENST00000296589.4	-	7	1596	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.Q425*	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	484					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGAGCCAGCTGCACCATGCAT	0.622																																					p.Q484X	Ovarian(31;380 859 8490 22203 49048)	.											.	SLC45A2-93	0			c.C1450T						.						82	56	65					5																	33944896		2203	4300	6503	SO:0001587	stop_gained	51151	exon7			CCAGCTGCACCAT	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1450C>T	5.37:g.33944896G>A	ENSP00000296589:p.Gln484*	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	911	62	NM_016180	0	0	0	0	0	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	38	6.662346	0.97743	.	.	ENSG00000164175	ENST00000296589;ENST00000342059	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.3284	20.0784	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	484;425	.	ENSP00000296589:Q484X	Q	-	1	0	SLC45A2	33980653	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.589000	0.98235	2.736000	0.93811	0.655000	0.94253	CAG	.		0.622	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		A	33944896	G	A	33944896	4	1	39	1	0	0	0	0	0	1	0	0	14686	1328	46	3	146	3	SLC45A2	5	33944896	Nonsense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		33944896	146970364	32	8952											
ATP6AP1L	92270	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	81613911	81613911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgatcggcctggcaatgtCcctgatcctgctgctggtgt	12	12	1	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr5:81613911C>T	ENST00000380167.4	+	10	1792	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S156F			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	156					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CTGGCAATGTCCCTGATCCTG	0.552																																					p.S156F		.											.	ATP6AP1L-90	0			c.C467T						.						94	82	86					5																	81613911		2203	4300	6503	SO:0001583	missense	92270	exon4			CAATGTCCCTGAT	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.467C>T	5.37:g.81613911C>T	ENSP00000369513:p.Ser156Phe	Somatic	204	1		WXS	Illumina GAIIx	Phase_I	217	95	NM_001017971	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380167.4	37	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131863	0.56828	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.86420	2.815	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.86770	0.1972	9	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	156	Q52LC2	VAS1L_HUMAN	F	156	.	ENSP00000369513:S156F	S	+	2	0	ATP6AP1L	81649667	0.999000	0.42202	0.566000	0.28421	0.023000	0.10783	3.968000	0.56809	2.711000	0.92665	0.563000	0.77884	TCC	.		0.552	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		T	81613911	C	T	81613911	3	4	39	1	0	0	0	0	1	0	0	0	1167	855	30	3	481	3	ATP6AP1L	5	81613911	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	47669015	81613911	99301349	33	8953											
RGMB	285704	broad.mit.edu	37	chr5	98128940	98128940	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtggaaagggagagtgGccactatgtggagatgcacg	16	6	0	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr5:98128940G>C	ENST00000513185.1	+	3	1233	c.797G>C	c.(796-798)gGc>gCc	p.G266A	RGMB_ENST00000308234.7_Missense_Mutation_p.G307A			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	266					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGGGAGAGTGGCCACTATGTG	0.597																																					p.G307A		.											.	.	0			c.G920C						.						54	57	56					5																	98128940		2152	4257	6409	SO:0001583	missense	285704	exon5			AGAGTGGCCACTA	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.797G>C	5.37:g.98128940G>C	ENSP00000423256:p.Gly266Ala	Somatic	257	0		WXS	Illumina GAIIx	Phase_I	250	7	NM_001012761	0	0	5	5	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		.	.	.	.	.	.	.	.	.	.	G	28.0	4.881283	0.91740	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.86694	-2.16;-2.16	5.75	5.75	0.90469	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94238	0.8150	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94392	0.7615	10	0.87932	D	0	-26.9703	19.9165	0.97064	0.0:0.0:1.0:0.0	.	266	Q6NW40	RGMB_HUMAN	A	307;266	ENSP00000308219:G307A;ENSP00000423256:G266A	ENSP00000308219:G307A	G	+	2	0	RGMB	98156840	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	9.786000	0.99046	2.705000	0.92388	0.563000	0.77884	GGC	.		0.597	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98128940	G	C	98128940	3	2	39	1	0	0	0	0	1	0	0	0	13326	1203	42	3	934	3	RGMB	5	98128940	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	16515029	98128940	82786320	34	8954											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	127728908	127728908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaagccattgcctccaGggatggggatgaagcctgtc	14	9	0	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr5:127728908G>T	ENST00000508053.1	-	16	2359	c.1385C>A	c.(1384-1386)cCt>cAt	p.P462H	FBN2_ENST00000508989.1_Missense_Mutation_p.P429H|FBN2_ENST00000262464.4_Missense_Mutation_p.P462H			P35556	FBN2_HUMAN	fibrillin 2	462					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)		ATTGCCTCCAGGGATGGGGAT	0.597																																					p.P462H		.											.	FBN2-146	0			c.C1385A						.						85	83	84					5																	127728908		2203	4300	6503	SO:0001583	missense	2201	exon10			CCTCCAGGGATGG	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.1385C>A	5.37:g.127728908G>T	ENSP00000424571:p.Pro462His	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	84	44	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397777	0.62177	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.86297	-1.89;-1.89;-2.1	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000003	D	0.90689	0.7079	L	0.54908	1.71	0.50467	D	0.999878	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.87234	0.2262	10	0.15066	T	0.55	.	17.3754	0.87391	0.0:0.0:1.0:0.0	.	429;462	D6RJI3;P35556	.;FBN2_HUMAN	H	462;462;429	ENSP00000262464:P462H;ENSP00000424571:P462H;ENSP00000425596:P429H	ENSP00000262464:P462H	P	-	2	0	FBN2	127756807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.768000	0.68858	2.505000	0.84491	0.563000	0.77884	CCT	.		0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127728908	G	T	127728908	3	4	39	1	0	0	0	0	1	0	0	0	5725	1000	35	3	7577	3	FBN2	5	127728908	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	29599968	127728908	53186352	35	8955											
TTC1	7265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	159491977	159491977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttggttctccgacctTttgggctctccacggaaaat	10	11	2	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr5:159491977T>G	ENST00000231238.5	+	8	894	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	TTC1_ENST00000522793.1_Missense_Mutation_p.F262V|TTC1_ENST00000520274.1_3'UTR	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	262					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TCTCCGACCTTTTGGGCTCTC	0.383																																					p.F262V		.											.	TTC1-91	0			c.T784G						.						71	72	72					5																	159491977		2203	4300	6503	SO:0001583	missense	7265	exon8			CGACCTTTTGGGC	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.784T>G	5.37:g.159491977T>G	ENSP00000231238:p.Phe262Val	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	56	34	NM_003314	0	0	49	102	53	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567774	0.86439	.	.	ENSG00000113312	ENST00000231238;ENST00000522793;ENST00000518560	T;T	0.25085	1.82;1.82	5.66	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45702	-0.9243	10	0.45353	T	0.12	-15.0156	11.3807	0.49754	0.0:0.0716:0.0:0.9284	.	262	Q99614	TTC1_HUMAN	V	262;262;94	ENSP00000231238:F262V;ENSP00000429225:F262V	ENSP00000231238:F262V	F	+	1	0	TTC1	159424555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.357000	0.79456	1.089000	0.41292	0.533000	0.62120	TTT	.		0.383	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		G	159491977	T	G	159491977	3	3	39	1	0	0	0	0	1	0	0	0	16727	1841	64	5	810	5	TTC1	5	159491977	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	31763069	159491977	21423283	36	8956											
KIAA1244	57221	bcgsc.ca	37	chr6	138613011	138613011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgagggctcgcccccCgagcacagcccggagcaggg	17	14	0	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr6:138613011C>A	ENST00000251691.4	+	19	3355	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTCGCCCCCCGAGCACAGCC	0.726																																					p.P1063P		.											.	KIAA1244-228	0			c.C3189A						.						11	12	12					6																	138613011		2172	4260	6432	SO:0001819	synonymous_variant	57221	exon19			GCCCCCCGAGCAC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3189C>A	6.37:g.138613011C>A		Somatic	88	3		WXS	Illumina GAIIx	Phase_I	110	50	NM_020340	0	0	0	0	0		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			.		0.726	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138613011	C	A	138613011	2	1	39	1	0	0	0	0	0	0	0	1	8244	639	23	2		2	KIAA1244	6	138613011	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		138613011	32502056	37	8957											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_002047	0	0	1	4	3	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	39	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		30634661	128504002	38	8958											
LAT2	7462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	73636002	73636002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtattacaactgggggcGgttctcgaagcccccagaag	14	10	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr7:73636002G>A	ENST00000460943.1	+	10	1257	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	LAT2_ENST00000398475.1_Missense_Mutation_p.R123Q|LAT2_ENST00000344995.5_Missense_Mutation_p.R123Q|LAT2_ENST00000275635.7_Missense_Mutation_p.R123Q	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AACTGGGGGCGGTTCTCGAAG	0.582																																					p.R123Q		.											.	LAT2-90	0			c.G368A						.						98	104	102					7																	73636002		1875	4102	5977	SO:0001583	missense	7462	exon10			GGGGGCGGTTCTC	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.368G>A	7.37:g.73636002G>A	ENSP00000420494:p.Arg123Gln	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	72	13	NM_032464	0	0	1	1	0	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494101	0.12702	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	3.38	-0.834	0.10779	.	133.025000	0.00166	N	0.000000	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.39313	-0.9620	10	0.15952	T	0.53	0.0011	3.7025	0.08387	0.3723:0.2077:0.42:0.0	.	123	Q9GZY6	NTAL_HUMAN	Q	123	ENSP00000344881:R123Q;ENSP00000420494:R123Q;ENSP00000381492:R123Q;ENSP00000275635:R123Q	ENSP00000275635:R123Q	R	+	2	0	LAT2	73273938	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.008000	0.03663	-0.181000	0.10619	0.561000	0.74099	CGG	.		0.582	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			A	73636002	G	A	73636002	3	1	39	1	0	0	0	0	1	0	0	0	8673	1116	39	1	398	1	LAT2	7	73636002	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	43001341	73636002	85502661	39	8959											
CACNA2D1	781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	81591223	81591224	+	Frame_Shift_Del	DEL	CA	CA	-													aaattacctggaacagtttcCacagtctaatacaccactga							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr7:81591223_81591224delCA	ENST00000356253.5	-	36	3243_3244	c.2988_2989delTG	c.(2986-2991)tgtggafs	p.CG996fs	CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.CG196fs|CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.CG984fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	996					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GAACAGTTTCCACAGTCTAATA	0.342																																					p.984_985del		.											.	CACNA2D1-96	0			c.2952_2953del						.																																			SO:0001589	frameshift_variant	781	exon36			AGTTTCCACAGTC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2988_2989delTG	7.37:g.81591225_81591226delCA	ENSP00000348589:p.Cys996fs	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	71	22	NM_000722	0	0	0	0	0	Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37																																																																																				.		0.342	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				-	81591224	CA	-	81591223	7	5	39	1	0	1	0	1	0	0	0	0	2555	603	21	0	338	0	CACNA2D1	7	81591223	Frame_Shift_Del	DEL	CA	TCGA-OR-A5KX-01A-11D-A29I-10	7955221	81591223	77547440	40	8960											
PUS7	54517	broad.mit.edu	37	chr7	105122864	105122864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagcacttattcaggTgggcaagtctttgtgcagtt	10	8	4	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr7:105122864T>G	ENST00000356362.2	-	8	1158	c.944A>C	c.(943-945)cAc>cCc	p.H315P	PUS7_ENST00000469408.1_Missense_Mutation_p.H315P	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	315					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTATTCAGGTGGGCAAGTCT	0.353																																					p.H315P	Colon(138;2387 3051 17860)	.											.	PUS7-90	0			c.A944C						.						139	140	140					7																	105122864		2203	4300	6503	SO:0001583	missense	54517	exon8			TTCAGGTGGGCAA	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.944A>C	7.37:g.105122864T>G	ENSP00000348722:p.His315Pro	Somatic	33	1		WXS	Illumina GAIIx	Phase_I	28	3	NM_019042	0	0	1	1	0	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657788	0.47467	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40476	1.03;1.03	5.21	5.21	0.72293	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.38175	1.15	0.80722	D	1	B;D	0.76494	0.14;0.999	B;D	0.68621	0.079;0.959	T	0.46091	-0.9216	10	0.31617	T	0.26	-19.0069	14.5634	0.68156	0.0:0.0:0.0:1.0	.	315;315	B3KY42;Q96PZ0	.;PUS7_HUMAN	P	315	ENSP00000348722:H315P;ENSP00000417402:H315P	ENSP00000348722:H315P	H	-	2	0	PUS7	104910100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.606000	0.82863	2.081000	0.62600	0.383000	0.25322	CAC	.		0.353	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		G	105122864	T	G	105122864	3	3	39	1	0	0	0	0	1	0	0	0	12878	1696	59	5	1077	5	PUS7	7	105122864	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	23531641	105122864	54015799	41	8961											
CSGALNACT1	55790	bcgsc.ca	37	chr8	19263441	19263441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctcgggggtcagctcGtccatgcagcgcttctcatg	12	13	2	0	rs35971700	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:19263441G>A	ENST00000454498.2	-	10	2462	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	CSGALNACT1_ENST00000544602.1_Silent_p.D483D|CSGALNACT1_ENST00000311540.4_Silent_p.D483D|CSGALNACT1_ENST00000332246.6_Silent_p.D483D|CSGALNACT1_ENST00000522854.1_Silent_p.D483D	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	483					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGTCAGCTCGTCCATGCAGC	0.572													G|||	213	0.0425319	0.0197	0.036	5008	,	,		17009	0.0248		0.0636	False		,,,				2504	0.0746				p.D483D		.											.	CSGALNACT1-70	0			c.C1449T						.	G	,	130,4276	95.7+/-134.4	0,130,2073	174	138	150		1449,1449	-7.6	0.4	8	dbSNP_126	150	628,7972	162.6+/-215.3	25,578,3697	no	coding-synonymous,coding-synonymous	CSGALNACT1	NM_001130518.1,NM_018371.4	,	25,708,5770	AA,AG,GG		7.3023,2.9505,5.8281	,	483/533,483/533	19263441	758,12248	2203	4300	6503	SO:0001819	synonymous_variant	55790	exon10			CAGCTCGTCCATG	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1449C>T	8.37:g.19263441G>A		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	90	5	NM_018371	0	0	16	16	0	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																			G|0.945;A|0.055		0.572	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		A	19263441	G	A	19263441	2	1	39	1	0	0	0	0	0	0	0	1	3947	1136	40	1		1	CSGALNACT1	8	19263441	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		19263441	127100581	42	8962											
BIN3	55909	bcgsc.ca	37	chr8	22494440	22494440	+	Frame_Shift_Del	DEL	A	A	-													ggggttgacactcactgctgAagttttccatactccctttc							TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:22494440delA	ENST00000276416.6	-	3	161	c.93delT	c.(91-93)cttfs	p.L31fs	BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Frame_Shift_Del_p.L31fs|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Frame_Shift_Del_p.F4fs	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	31	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CTCACTGCTGAAGTTTTCCAT	0.547																																					p.L31fs		.											.	.	0			c.93delT						.						91	96	94					8																	22494440		1950	4118	6068	SO:0001589	frameshift_variant	55909	exon3			CTGCTGAAGTTTT		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.93delT	8.37:g.22494440delA	ENSP00000276416:p.Leu31fs	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	91	12	NM_018688	0	0	0	0	0	Q9BVG2|Q9NVY9	Frame_Shift_Del	DEL	ENST00000276416.6	37	CCDS47825.1																																																																																			.		0.547	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			-	22494440	A	-	22494440	7	5	39	1	0	1	0	1	0	0	0	0	1436	233	9	0	696	0	BIN3	8	22494440	Frame_Shift_Del	DEL	A	TCGA-OR-A5KX-01A-11D-A29I-10	3230999	22494440	123869582	43	8963	83	2									
BIN3	55909	bcgsc.ca	37	chr8	22494441	22494441	+	Missense_Mutation	SNP	A	A	T													gggttgacactcactgctgaAgttttccatactccctttca					rs200762212		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:22494441A>T	ENST00000276416.6	-	3	160	c.92T>A	c.(91-93)cTt>cAt	p.L31H	BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Missense_Mutation_p.L31H|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.F4I	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	31	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCACTGCTGAAGTTTTCCATA	0.547																																					p.L31H		.											.	.	0			c.T92A						.						92	96	95					8																	22494441		1952	4117	6069	SO:0001583	missense	55909	exon3			TGCTGAAGTTTTC		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.92T>A	8.37:g.22494441A>T	ENSP00000276416:p.Leu31His	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	90	12	NM_018688	0	0	0	0	0	Q9BVG2|Q9NVY9	Missense_Mutation	SNP	ENST00000276416.6	37	CCDS47825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.641969|4.641969	0.87859|0.87859	.|.	.|.	ENSG00000147439|ENSG00000147439	ENST00000399977|ENST00000276416;ENST00000520292	.|T;T	.|0.62498	.|0.02;0.02	5.94|5.94	5.94|5.94	0.96194|0.96194	.|BAR (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74038|0.74038	0.3664|0.3664	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	T|T	0.76383|0.76383	-0.2979|-0.2979	6|10	0.19590|0.87932	T|D	0.45|0	-19.3043|-19.3043	14.3499|14.3499	0.66694|0.66694	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|31	.|Q9NQY0	.|BIN3_HUMAN	I|H	4|31	.|ENSP00000276416:L31H;ENSP00000429660:L31H	ENSP00000382859:F4I|ENSP00000276416:L31H	F|L	-|-	1|2	0|0	BIN3|BIN3	22550386|22550386	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	7.932000|7.932000	0.87634|0.87634	2.279000|2.279000	0.76181|0.76181	0.459000|0.459000	0.35465|0.35465	TTC|CTT	A|0.999;G|0.001		0.547	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			T	22494441	A	T	22494441	3	4	39	1	0	0	0	0	1	0	0	0	1436	72	3	5	697	5	BIN3	8	22494441	Missense_Mutation	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	1	22494441	123869581	44	8964	83	2									
BRF2	25960	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	37702542	37702542	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcaagggaacatgaaagCcgatctgcaggctgcagcga	15	10	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:37702542C>T	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_3'UTR|BRF2_ENST00000220659.6_Silent_p.R242R	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACATGAAAGCCGATCTGCAG	0.607																																					p.R242R		.											.	BRF2-90	0			c.G726A						.						31	33	32					8																	37702542		2203	4300	6503	SO:0001628	intergenic_variant	55290	exon4			TGAAAGCCGATCT	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		8.37:g.37702542C>T		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	703	51	NM_018310	0	0	97	111	14	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.607	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37702542	C	T	37702542	1	4	39	0	1	0	0	0	0	0	0	0	1515	726	26	3		3	BRF2	8	37702542	IGR	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	15208101	37702542	108661480	45	8965											
PABPC1	26986	broad.mit.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		.											.	PABPC1-68	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	147	1		WXS	Illumina GAIIx	Phase_I	147	5	NM_002568	0	0	269	269	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	39	1	0	0	0	0	1	0	0	0	11402	1377	48	3	986	3	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	64022064	101724606	44639416	46	8966											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	39	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5KX-01A-11D-A29I-10	18496170	120220776	26143246	47	8967											
ENPP2	5168	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	120581567	120581567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacacggacatcaggcCggacgcaactggtcagatgg	14	10	2	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:120581567C>T	ENST00000075322.6	-	21	2019	c.1961G>A	c.(1960-1962)cGg>cAg	p.R654Q	ENPP2_ENST00000427067.2_Missense_Mutation_p.R675Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679Q|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706Q|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289Q	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					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)			GACATCAGGCCGGACGCAACT	0.512																																					p.R706Q	Melanoma(20;305 879 2501 4818 31020)	.											.	ENPP2-292	0			c.G2117A						.						125	113	117					8																	120581567		2203	4300	6503	SO:0001583	missense	5168	exon22			TCAGGCCGGACGC	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.1961G>A	8.37:g.120581567C>T	ENSP00000075322:p.Arg654Gln	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	141	10	NM_006209	0	0	151	151	0	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947462	0.92593	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.36	5.36	0.76844	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	M	0.83223	2.63	0.80722	D	1	B;D;D;D;D	0.89917	0.1;1.0;1.0;1.0;1.0	B;D;D;D;D	0.91635	0.172;0.999;0.999;0.999;0.999	D	0.83591	0.0123	10	0.59425	D	0.04	.	19.1047	0.93290	0.0:1.0:0.0:0.0	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	Q	706;675;289;679;654	ENSP00000259486:R706Q;ENSP00000403315:R675Q;ENSP00000429476:R289Q;ENSP00000428291:R679Q;ENSP00000075322:R654Q	ENSP00000075322:R654Q	R	-	2	0	ENPP2	120650748	0.999000	0.42202	0.991000	0.47740	0.725000	0.41563	5.450000	0.66626	2.515000	0.84797	0.650000	0.86243	CGG	.		0.512	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120581567	C	T	120581567	3	4	39	1	0	0	0	0	1	0	0	0	5146	652	23	1	650	1	ENPP2	8	120581567	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	360791	120581567	25782455	48	8968											
GSDMC	56169	bcgsc.ca	37	chr8	130760774	130760774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccagctgctgcagcaaCgagagagtcccatagagggc	13	12	1	2	rs4733559	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:130760774C>T	ENST00000276708.4	-	14	2381	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	500						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCTGCAGCAACGAGAGAGTCC	0.582													C|||	516	0.103035	0.0121	0.2147	5008	,	,		14276	0.0218		0.2157	False		,,,				2504	0.1145				p.S500S		.											.	GSDMC-93	0			c.G1500A						.	C		202,4204	126.6+/-163.6	8,186,2009	129	123	125		1500	-9.5	0	8	dbSNP_111	125	1878,6722	334.5+/-321.0	212,1454,2634	no	coding-synonymous	GSDMC	NM_031415.2		220,1640,4643	TT,TC,CC		21.8372,4.5847,15.9926		500/509	130760774	2080,10926	2203	4300	6503	SO:0001819	synonymous_variant	56169	exon14			CAGCAACGAGAGA	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1500G>A	8.37:g.130760774C>T		Somatic	202	0		WXS	Illumina GAIIx	Phase_I	163	7	NM_031415	0	0	0	0	0	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																			C|0.868;T|0.132		0.582	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			T	130760774	C	T	130760774	2	4	39	1	0	0	0	0	0	0	0	1	6845	523	19	1		1	GSDMC	8	130760774	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	10179207	130760774	15603248	49	8969											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874554	144874554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccacctcccaggggTgggggggacgccgggctctg	21	13	1	0	rs6991873	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Silent_p.P1450P|SCRIB_ENST00000377533.3_Silent_p.P1369P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					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)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1		0.998	False		,,,				2504	1				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3	4	4		4350,4350	-2.9	0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	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.4350A>G	8.37:g.144874554T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015356	0	0	0	13	13	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144874554	T	C	144874554	2	2	39	1	0	0	0	0	0	0	0	1	13982	1683	59	4		4	SCRIB	8	144874554	Silent	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	14113780	144874554	1489468	50	8970											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000357649.2_Silent_p.A1564A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	39	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	124863	144999417	1364605	51	8971											
UNC13B	10497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35375173	35375173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttctgcaatggctacacGcacttctcttaaggacgaag	8	12	2	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr9:35375173G>A	ENST00000378495.3	+	13	1565	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	UNC13B_ENST00000396787.1_Missense_Mutation_p.R460H|UNC13B_ENST00000378496.4_Missense_Mutation_p.R448H	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	448					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCTACACGCACTTCTCTT	0.512																																					p.R448H		.											.	UNC13B-157	0			c.G1343A						.						229	202	211					9																	35375173		2203	4300	6503	SO:0001583	missense	10497	exon13			CTACACGCACTTC	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1343G>A	9.37:g.35375173G>A	ENSP00000367756:p.Arg448His	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	187	82	NM_006377	0	0	1	2	1	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295038	0.95574	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.62788	0.0;0.0;0.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.79361	-0.1835	10	0.87932	D	0	-13.4584	20.0749	0.97738	0.0:0.0:1.0:0.0	.	448;448	F8W8M9;O14795	.;UN13B_HUMAN	H	460;448;448;35	ENSP00000380006:R460H;ENSP00000367756:R448H;ENSP00000367757:R448H	ENSP00000367756:R448H	R	+	2	0	UNC13B	35365173	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	6.272000	0.72575	2.759000	0.94783	0.591000	0.81541	CGC	.		0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35375173	G	A	35375173	3	1	39	1	0	0	0	0	1	0	0	0	17034	1087	38	1	1393	1	UNC13B	9	35375173	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		35375173	105838258	52	8972											
TGFBR1	7046	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	101894969	101894969	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcccttttatttcagagggTactacgttgaaagacttaat	8	8	1	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr9:101894969T>A	ENST00000374994.4	+	3	639	c.522T>A	c.(520-522)ggT>ggA	p.G174G	TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Silent_p.G105G|TGFBR1_ENST00000552516.1_Silent_p.G178G	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	174					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTCAGAGGGTACTACGTTGA	0.383																																					p.G174G		.											.	TGFBR1-954	0			c.T522A						.						119	104	109					9																	101894969		2203	4300	6503	SO:0001819	synonymous_variant	7046	exon3			AGAGGGTACTACG		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.522T>A	9.37:g.101894969T>A		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	122	46	NM_004612	0	0	0	0	0	Q6IR47|Q706C0|Q706C1	Silent	SNP	ENST00000374994.4	37	CCDS6738.1																																																																																			.		0.383	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			A	101894969	T	A	101894969	2	1	39	1	0	0	0	0	0	0	0	1	15868	1625	57	5		5	TGFBR1	9	101894969	Silent	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	66519796	101894969	39318462	53	8973											
NOXA1	10811	hgsc.bcm.edu	37	chr9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctctctgggggaCctggtgcgcgcctggcacct	15	15	1	0	rs112864733	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000340951.4_5'Flank|EXD3_ENST00000475006.1_5'Flank|EXD3_ENST00000479452.1_5'Flank|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000342129.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4	5	5		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			G	140317999	C	G	140317999	3	3	39	1	0	0	0	0	1	0	0	0	10599	506	18	3	20	3	NOXA1	9	140317999	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	38423030	140317999	895432	54	8974											
C10orf111	221060	bcgsc.ca	37	chr10	15138615	15138615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgactccgatggtagcCtgagtctccattgcttggag	13	11	1	1	rs7896053	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr10:15138615C>T	ENST00000378207.3	-	2	482	c.209G>A	c.(208-210)aGg>aAg	p.R70K	RPP38_ENST00000378197.4_5'Flank|RPP38_ENST00000378202.5_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	70			R -> K (in dbSNP:rs7896053).			integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						CGATGGTAGCCTGAGTCTCCA	0.502													T|||	1194	0.238419	0.6649	0.1182	5008	,	,		16927	0.0625		0.1113	False		,,,				2504	0.0593				p.R70K		.											.	C10orf111-90	0			c.G209A						.	T	LYS/ARG	2472,1934	549.9+/-377.9	678,1116,409	141	138	139		209	-1.9	0	10	dbSNP_116	139	923,7677	776.9+/-407.7	51,821,3428	yes	missense	C10orf111	NM_153244.1	26	729,1937,3837	TT,TC,CC		10.7326,43.8947,26.1033	benign	70/156	15138615	3395,9611	2203	4300	6503	SO:0001583	missense	221060	exon2			GGTAGCCTGAGTC	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.209G>A	10.37:g.15138615C>T	ENSP00000367449:p.Arg70Lys	Somatic	208	2		WXS	Illumina GAIIx	Phase_I	182	6	NM_153244	0	0	0	0	0	B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	CCDS7107.1	497	0.22756410256410256	327	0.6646341463414634	52	0.143646408839779	32	0.055944055944055944	86	0.11345646437994723	T	8.664	0.901234	0.17760	0.561053	0.107326	ENSG00000176236	ENST00000378207	T	0.53857	0.6	2.83	-1.94	0.07571	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41233	-0.9520	8	0.87932	D	0	.	4.5021	0.11869	0.1568:0.5125:0.0:0.3307	rs7896053;rs52818153;rs58141984;rs7896053	70	Q8N326	CJ111_HUMAN	K	70	ENSP00000367449:R70K	ENSP00000367449:R70K	R	-	2	0	C10orf111	15178621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.525000	0.00221	-0.731000	0.04862	-2.791000	0.00116	AGG	C|0.740;T|0.260		0.502	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		T	15138615	C	T	15138615	3	4	39	1	0	0	0	0	1	0	0	0	1588	681	24	3	262	3	C10orf111	10	15138615	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		15138615	120396132	55	8975											
SVIL	6840	bcgsc.ca	37	chr10	29747417	29747417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggatcgaccccctcCgggagtggcctggccaggag	15	13	1	1	rs1887465	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr10:29747417C>T	ENST00000355867.4	-	37	7256	c.6504G>A	c.(6502-6504)ccG>ccA	p.P2168P	PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|SVIL_ENST00000535393.1_Silent_p.P1082P|SVIL_ENST00000375398.2_Silent_p.P2168P|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1742P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2168	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGACCCCCTCCGGGAGTGGCC	0.552													C|||	1800	0.359425	0.2852	0.3746	5008	,	,		15050	0.5565		0.2465	False		,,,				2504	0.362				p.P2168P		.											.	SVIL-96	0			c.G6504A						.	C	,	1301,3105	436.1+/-344.5	193,915,1095	42	46	44		5226,6504	-8.8	0.1	10	dbSNP_92	44	1844,6756	329.8+/-318.9	197,1450,2653	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	390,2365,3748	TT,TC,CC		21.4419,29.5279,24.1811	,	1742/1789,2168/2215	29747417	3145,9861	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon37			CCCCTCCGGGAGT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6504G>A	10.37:g.29747417C>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	115	5	NM_021738	0	0	14	14	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			C|0.733;T|0.267		0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29747417	C	T	29747417	2	4	39	1	0	0	0	0	0	0	0	1	15468	639	23	1		1	SVIL	10	29747417	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	14608802	29747417	105787330	56	8976											
KCNJ11	3767	bcgsc.ca	37	chr11	17408831	17408831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtcgctgggtgccaGgtcgtagagtgggctgttgg	20	7	0	1	rs1800467	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr11:17408831G>C	ENST00000339994.4	-	1	1375	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L183V|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	270			L -> V (in dbSNP:rs1800467). {ECO:0000269|PubMed:8897013, ECO:0000269|PubMed:9032109}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CTGGGTGCCAGGTCGTAGAGT	0.617											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	76	0.0151757	0.003	0.0245	5008	,	,		20338	0		0.0507	False		,,,				2504	0.0041				p.L270V		.											.	KCNJ11-91	0			c.C808G						.	G	VAL/LEU,VAL/LEU	31,4369	36.8+/-68.6	0,31,2169	139	127	131		808,547	5.4	1	11	dbSNP_89	131	403,8183	127.7+/-186.0	5,393,3895	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	32,32	5,424,6064	CC,CG,GG		4.6937,0.7045,3.3421	benign,benign	270/391,183/304	17408831	434,12552	2200	4293	6493	SO:0001583	missense	3767	exon1			GTGCCAGGTCGTA	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.808C>G	11.37:g.17408831G>C	ENSP00000345708:p.Leu270Val	Somatic	216	1	717	WXS	Illumina GAIIx	Phase_I	237	8	NM_000525	0	0	0	0	0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	48	0.02197802197802198	1	0.0020325203252032522	14	0.03867403314917127	0	0.0	33	0.04353562005277045	G	7.898	0.733876	0.15574	0.007045	0.046937	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.94723	-3.5;-3.5	5.43	5.43	0.79202	.	0.160775	0.42548	D	0.000688	T	0.65080	0.2657	L	0.38649	1.16	0.42195	D	0.991748	B	0.10296	0.003	B	0.12156	0.007	T	0.75966	-0.3131	10	0.49607	T	0.09	.	5.5084	0.16866	0.1558:0.0:0.6647:0.1794	rs1800467;rs8192538;rs1800467	270	B2RC52	.	V	270;183	ENSP00000345708:L270V;ENSP00000434755:L183V	ENSP00000345708:L270V	L	-	1	2	KCNJ11	17365407	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	1.095000	0.30964	2.548000	0.85928	0.561000	0.74099	CTG	G|0.734;C|0.266		0.617	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		C	17408831	G	C	17408831	3	2	39	1	0	0	0	0	1	0	0	0	8072	991	35	3	368	3	KCNJ11	11	17408831	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		17408831	117597685	57	8977											
NUP160	23279	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	47869867	47869867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggctcccgccgccgCcatcttcccgccgtcgccgc	10	22	1	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr11:47869867C>T	ENST00000378460.2	-	1	152	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	NUP160_ENST00000526870.1_Missense_Mutation_p.A36T|NUP160_ENST00000532747.1_Missense_Mutation_p.A2T|NUP160_ENST00000530326.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	36					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCCGCCGCCGCCATCTTCCCG	0.687																																					p.A36T		.											.	NUP160-209	0			c.G106A						.						26	31	30					11																	47869867		2194	4290	6484	SO:0001583	missense	23279	exon1			CCGCCGCCATCTT	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.106G>A	11.37:g.47869867C>T	ENSP00000367721:p.Ala36Thr	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_015231	0	0	0	0	0	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411130	0.83340	.	.	ENSG00000030066	ENST00000378460;ENST00000532747;ENST00000526870	T;T;T	0.57273	1.38;0.41;0.55	4.85	2.91	0.33838	.	0.372641	0.24788	N	0.035582	T	0.52208	0.1720	N	0.19112	0.55	0.32101	N	0.590575	D;P	0.71674	0.998;0.734	D;B	0.65684	0.937;0.398	T	0.60647	-0.7222	10	0.87932	D	0	-11.0344	8.9891	0.36012	0.0:0.763:0.1522:0.0849	.	36;36	Q12769-2;Q12769	.;NU160_HUMAN	T	36;2;36	ENSP00000367721:A36T;ENSP00000432437:A2T;ENSP00000431495:A36T	ENSP00000367721:A36T	A	-	1	0	NUP160	47826443	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.950000	0.63603	1.146000	0.42352	-0.479000	0.04858	GCG	.		0.687	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		T	47869867	C	T	47869867	3	4	39	1	0	0	0	0	1	0	0	0	10796	739	26	3	4348	3	NUP160	11	47869867	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	30461036	47869867	87136649	58	8978											
EML3	256364	bcgsc.ca	37	chr11	62378802	62378802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgggtggcagtcctGggggggctgcaagactgctg	19	9	0	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr11:62378802G>C	ENST00000394773.2	-	3	516	c.209C>G	c.(208-210)cCa>cGa	p.P70R	EML3_ENST00000529309.1_Missense_Mutation_p.P70R|EML3_ENST00000278845.4_Missense_Mutation_p.P71R|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.P42R|ROM1_ENST00000534093.1_5'Flank	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.P70R		.											.	EML3-91	0			c.C209G						.						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>G	11.37:g.62378802G>C	ENSP00000378254:p.Pro70Arg	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	81	4	NM_153265	0	0	2	2	0	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372113	0.42003	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	T;T;T;T	0.41400	1.76;1.74;1.0;1.66	5.05	4.14	0.48551	.	0.303076	0.28166	N	0.016345	T	0.47192	0.1432	N	0.24115	0.695	0.35236	D	0.777411	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	0.59847	-0.7377	10	0.72032	D	0.01	-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;.;.	R	70;71;42;70;41;42;41	ENSP00000378254:P70R;ENSP00000278845:P71R;ENSP00000435064:P42R;ENSP00000434513:P70R	ENSP00000278845:P71R	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		C	62378802	G	C	62378802	3	2	39	1	0	0	0	0	1	0	0	0	5114	1348	47	3	2561	3	EML3	11	62378802	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	14508935	62378802	72627714	59	8979											
GPR137	56834	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	64056752	64056777	+	Frame_Shift_Del	DEL	CCCAGGATCCTGGGGGTCGTGGCTAC	CCCAGGATCCTGGGGGTCGTGGCTAC	-													agtttgtctgccgcttcttgCccaggatcctgggggtcgtg					rs553703869|rs376225218|rs367703845		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	CCCAGGATCCTGGGGGTCGTGGCTAC	CCCAGGATCCTGGGGGTCGTGGCTAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr11:64056752_64056777delCCCAGGATCCTGGGGGTCGTGGCTAC	ENST00000313074.3	+	7	1274_1299	c.1169_1194delCCCAGGATCCTGGGGGTCGTGGCTAC	c.(1168-1194)gcccaggatcctgggggtcgtggctacfs	p.AQDPGGRGY390fs	KCNK4_ENST00000422670.2_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Frame_Shift_Del_p.AQDPGGRGY448fs|GPR137_ENST00000438980.2_3'UTR	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	390						integral component of membrane (GO:0016021)		p.Q391K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCGCTTCTTGCCCAGGATCCTGGGGGTCGTGGCTACCCCCTCCTCT	0.664																																					p.448_456del		.											.	GPR137-68	1	Substitution - Missense(1)	lung(1)	c.1343_1368del						.																																			SO:0001589	frameshift_variant	56834	exon9			TTCTTGCCCAGGA	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1169_1194delCCCAGGATCCTGGGGGTCGTGGCTAC	11.37:g.64056752_64056777delCCCAGGATCCTGGGGGTCGTGGCTAC	ENSP00000321698:p.Ala390fs	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	109	17	NM_001170726	0	0	0	0	0	B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Frame_Shift_Del	DEL	ENST00000313074.3	37	CCDS8066.1																																																																																			.		0.664	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		-	64056777	CCCAGGATCCTGGGGGTCGTGGCTAC	-	64056752	7	5	39	1	0	1	0	1	0	0	0	0	6671	739	26	0	1483	0	GPR137	11	64056752	Frame_Shift_Del	DEL	CCCAGGATCCTGGGGGTCGTGGCTAC	TCGA-OR-A5KX-01A-11D-A29I-10	1677950	64056752	70949764	60	8980											
FADD	8772	broad.mit.edu;bcgsc.ca	37	chr11	70052536	70052536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagtggggccatgtcccCgatgtcatggaactcagacg	14	11	2	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr11:70052536C>T	ENST00000301838.4	+	2	881	c.584C>T	c.(583-585)cCg>cTg	p.P195L	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	195					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|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)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|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)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCCATGTCCCCGATGTCATGG	0.602																																					p.P195L		.											.	FADD-660	0			c.C584T						.						59	53	55					11																	70052536		2200	4294	6494	SO:0001583	missense	8772	exon2			TGTCCCCGATGTC	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.584C>T	11.37:g.70052536C>T	ENSP00000301838:p.Pro195Leu	Somatic	153	2		WXS	Illumina GAIIx	Phase_I	123	56	NM_003824	0	0	18	38	20	Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	C	6.952	0.545551	0.13312	.	.	ENSG00000168040	ENST00000301838	T	0.76968	-1.06	3.21	1.2	0.21068	DEATH-like (1);	1.169980	0.06556	N	0.745964	T	0.60157	0.2247	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.43653	-0.9378	10	0.02654	T	1	-0.1166	6.6647	0.23035	0.0:0.8206:0.0:0.1794	.	195	Q13158	FADD_HUMAN	L	195	ENSP00000301838:P195L	ENSP00000301838:P195L	P	+	2	0	FADD	69730184	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.003000	0.13083	0.316000	0.23135	0.561000	0.74099	CCG	.		0.602	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		T	70052536	C	T	70052536	3	4	39	1	0	0	0	0	1	0	0	0	5383	652	23	1	590	1	FADD	11	70052536	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	5995784	70052536	64953980	61	8981											
NOP2	4839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6672532	6672532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggaagtctccataGgagtagtaaatggccagatc	11	9	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr12:6672532G>A	ENST00000322166.5	-	8	958	c.837C>T	c.(835-837)tcC>tcT	p.S279S	NOP2_ENST00000399466.2_Silent_p.S275S|NOP2_ENST00000382421.3_Silent_p.S312S|NOP2_ENST00000545200.1_Silent_p.S275S|NOP2_ENST00000541778.1_Silent_p.S275S|NOP2_ENST00000537442.1_Silent_p.S279S|NOP2_ENST00000542015.1_Intron	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	279					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGTCTCCATAGGAGTAGTAAA	0.512											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S312S		.											.	NOP2-92	0			c.C936T						.						66	70	69					12																	6672532		1934	4124	6058	SO:0001819	synonymous_variant	4839	exon9			TCCATAGGAGTAG		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.837C>T	12.37:g.6672532G>A		Somatic	84	0	635	WXS	Illumina GAIIx	Phase_I	77	40	NM_001258309	0	0	2	5	3	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																			.		0.512	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		A	6672532	G	A	6672532	2	1	39	1	0	0	0	0	0	0	0	1	10577	987	35	3		3	NOP2	12	6672532	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		6672532	127179363	62	8982											
KRT6A	3853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52882329	52882329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcggcctgcaggttggCgcactggaagaggaaaggaa	17	7	0	1	rs372637888		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr12:52882329C>T	ENST00000330722.6	-	7	1275	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	403	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGGTTGGCGCACTGGAAG	0.562																																					p.A403T		.											.	KRT6A-27	0			c.G1207A						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	65	61	62		1207	4.2	0.7	12		62	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT6A	NM_005554.3	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	403/565	52882329	3,13003	2203	4300	6503	SO:0001583	missense	3853	exon7			GGTTGGCGCACTG	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1207G>A	12.37:g.52882329C>T	ENSP00000369317:p.Ala403Thr	Somatic	302	0		WXS	Illumina GAIIx	Phase_I	296	160	NM_005554	0	0	0	0	0	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	14.77	2.635495	0.47049	2.27E-4	2.33E-4	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.89415	-2.51	5.15	4.25	0.50352	Filament (1);	0.000000	0.64402	D	0.000017	D	0.88822	0.6541	M	0.78049	2.395	0.43924	D	0.996576	P	0.41673	0.759	B	0.40038	0.317	D	0.88209	0.2889	10	0.41790	T	0.15	.	14.3456	0.66662	0.0:0.9274:0.0:0.0726	.	403	P02538	K2C6A_HUMAN	T	403;359	ENSP00000369317:A403T	ENSP00000369317:A403T	A	-	1	0	KRT6A	51168596	0.196000	0.23350	0.730000	0.30809	0.035000	0.12851	0.804000	0.27098	1.284000	0.44531	0.655000	0.94253	GCC	.		0.562	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52882329	C	T	52882329	3	4	39	1	0	0	0	0	1	0	0	0	8507	768	27	1	499	1	KRT6A	12	52882329	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	46209797	52882329	80969566	63	8983											
KRT77	374454	bcgsc.ca	37	chr12	53088567	53088567	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatgtgagtctgcacctgaGacagctcctgcgaggcatgg	14	10	1	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr12:53088567G>T	ENST00000341809.3	-	5	951	c.923C>A	c.(922-924)tCt>tAt	p.S308Y	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.S75Y	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	308	Coil 1B.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGCACCTGAGACAGCTCCTG	0.597																																					p.S308Y		.											.	KRT77-187	0			c.C923A						.						134	103	113					12																	53088567		2203	4300	6503	SO:0001583	missense	374454	exon5			ACCTGAGACAGCT	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.923C>A	12.37:g.53088567G>T	ENSP00000342710:p.Ser308Tyr	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	121	5	NM_175078	0	0	0	0	0	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225713	0.58668	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	T;D	0.89552	-1.4;-2.53	4.94	4.03	0.46877	Filament (1);	.	.	.	.	D	0.95357	0.8493	M	0.90252	3.1	0.28558	N	0.911258	D	0.89917	1.0	D	0.83275	0.996	D	0.90995	0.4838	9	0.87932	D	0	.	15.1859	0.73002	0.0:0.1421:0.8579:0.0	.	308	Q7Z794	K2C1B_HUMAN	Y	308;75	ENSP00000342710:S308Y;ENSP00000440803:S75Y	ENSP00000342710:S308Y	S	-	2	0	KRT77	51374834	0.001000	0.12720	0.999000	0.59377	0.807000	0.45602	0.966000	0.29331	1.196000	0.43129	0.555000	0.69702	TCT	.		0.597	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		T	53088567	G	T	53088567	3	4	39	1	0	0	0	0	1	0	0	0	8517	942	33	3	833	3	KRT77	12	53088567	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	206238	53088567	80763328	64	8984											
STAB2	55576	bcgsc.ca	37	chr12	104100617	104100617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccaatgccagccctgCccagggaatgcccagaatgt	11	16	0	1	rs697212	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr12:104100617C>T	ENST00000388887.2	+	38	4248	c.4044C>T	c.(4042-4044)tgC>tgT	p.C1348C		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						GCCAGCCCTGCCCAGGGAATG	0.547													C|||	2158	0.430911	0.1203	0.3256	5008	,	,		20375	0.747		0.504	False		,,,				2504	0.5245				p.C1348C		.											.	STAB2-104	0			c.C4044T						.	C		862,3544	338.1+/-305.1	88,686,1429	126	117	120		4044	3.5	1	12	dbSNP_86	120	4234,4366	573.2+/-389.8	1044,2146,1110	no	coding-synonymous	STAB2	NM_017564.9		1132,2832,2539	TT,TC,CC		49.2326,19.5642,39.1819		1348/2552	104100617	5096,7910	2203	4300	6503	SO:0001819	synonymous_variant	55576	exon38			GCCCTGCCCAGGG	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.4044C>T	12.37:g.104100617C>T		Somatic	226	2		WXS	Illumina GAIIx	Phase_I	238	10	NM_017564	0	0	0	0	0		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																			T|0.306;G|0.121		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104100617	C	T	104100617	2	4	39	1	0	0	0	0	0	0	0	1	15285	747	26	3		3	STAB2	12	104100617	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	51012050	104100617	29751278	65	8985											
N4BP2L2	10443	broad.mit.edu;bcgsc.ca	37	chr13	33017802	33017802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcttttctaccttcatgccaGagcagtcatcagttgttaca	7	11	4	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr13:33017802G>C	ENST00000504114.1	-	6	918	c.827C>G	c.(826-828)tCt>tGt	p.S276C	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.S276C|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.S291C|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTTCATGCCAGAGCAGTCATC	0.388																																					p.S291C		.											.	N4BP2L2-68	0			c.C872G						.						98	91	94					13																	33017802		1875	4115	5990	SO:0001583	missense	10443	exon7			ATGCCAGAGCAGT	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.827C>G	13.37:g.33017802G>C	ENSP00000427477:p.Ser276Cys	Somatic	280	0		WXS	Illumina GAIIx	Phase_I	249	9	NM_033111	0	0	0	0	0	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	G	16.20	3.054956	0.55325	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	4.91	4.04	0.47022	.	1.144740	0.06291	N	0.699163	T	0.66416	0.2787	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.66351	0.912;0.912;0.943;0.943	T	0.49485	-0.8935	9	0.66056	D	0.02	-1.7176	11.4498	0.50145	0.0:0.0:0.8195:0.1805	.	276;291;174;174	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	C	174;203;276;276;291	.	ENSP00000350104:S276C	S	-	2	0	N4BP2L2;RP11-298P3.4	31915802	0.002000	0.14202	0.017000	0.16124	0.183000	0.23260	0.613000	0.24299	0.985000	0.38656	0.655000	0.94253	TCT	.		0.388	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		C	33017802	G	C	33017802	3	2	39	1	0	0	0	0	1	0	0	0	10150	942	33	3	1398	3	N4BP2L2	13	33017802	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		33017802	82152076	66	8986											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_005537	0	0	0	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	39	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	78350514	111368316	3801562	67	8987											
FLJ10357	55701	bcgsc.ca	37	chr14	21542766	21542766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgggcgtggatgcaccagAagggcctggggcctcggggc	19	12	0	1	rs12889267	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr14:21542766A>G	ENST00000298694.4	+	3	1004	c.877A>G	c.(877-879)Aag>Gag	p.K293E	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.K293E			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	293	Gly-rich.			K -> E (in Ref. 1; BAB15753). {ECO:0000305}.		cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GATGCACCAGAAGGGCCTGGG	0.726													A|||	589	0.117612	0.0076	0.3256	5008	,	,		16427	0.0298		0.1332	False		,,,				2504	0.1933				p.K293E		.											.	ARHGEF40-228	0			c.A877G						.	A	GLU/LYS	145,4217		2,141,2038	9	12	11		877	3.9	1	14	dbSNP_121	11	1243,7299		89,1065,3117	no	missense	ARHGEF40	NM_018071.3	56	91,1206,5155	GG,GA,AA		14.5516,3.3242,10.7564	possibly-damaging	293/1520	21542766	1388,11516	2181	4271	6452	SO:0001583	missense	55701	exon3			CACCAGAAGGGCC		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.877A>G	14.37:g.21542766A>G	ENSP00000298694:p.Lys293Glu	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_018071	0	0	7	7	0	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	238	0.10897435897435898	5	0.01016260162601626	111	0.30662983425414364	16	0.027972027972027972	106	0.13984168865435356	A	13.06	2.123470	0.37436	0.033242	0.145516	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02737	4.23;4.18	5.12	3.91	0.45181	.	0.125962	0.36167	N	0.002751	T	0.00012	0.0000	N	0.24115	0.695	0.35578	P	0.193959	P;D	0.54207	0.646;0.965	B;P	0.52454	0.175;0.699	T	0.59085	-0.7520	9	0.40728	T	0.16	.	9.8244	0.40903	0.8276:0.1724:0.0:0.0	rs12889267	293;293	Q8TER5;G3V3N2	ARH40_HUMAN;.	E	293	ENSP00000298694:K293E;ENSP00000298693:K293E	ENSP00000298693:K293E	K	+	1	0	ARHGEF40	20612606	0.852000	0.29690	1.000000	0.80357	0.269000	0.26545	0.992000	0.29667	1.941000	0.56285	0.459000	0.35465	AAG	A|0.891;G|0.109		0.726	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			G	21542766	A	G	21542766	3	3	39	1	0	0	0	0	1	0	0	0	5948	247	9	4	887	4	FLJ10357	14	21542766	Missense_Mutation	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10		21542766	85806774	68	8988											
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52520649	52520649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaggatccaaggtGgaagattctgtttcaggata	14	4	2	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr14:52520649G>A	ENST00000216286.5	-	5	1076	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	NID2_ENST00000541773.1_Silent_p.S306S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	359					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)					GATCCAAGGTGGAAGATTCTG	0.502																																					p.S359S		.											.	NID2-158	0			c.C1077T						.						66	65	65					14																	52520649		2203	4300	6503	SO:0001819	synonymous_variant	22795	exon5			CAAGGTGGAAGAT	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.1077C>T	14.37:g.52520649G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	109	41	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	CCDS9706.1																																																																																			.		0.502	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			A	52520649	G	A	52520649	2	1	39	1	0	0	0	0	0	0	0	1	10454	1335	47	3		3	NID2	14	52520649	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	30977883	52520649	54828891	69	8989											
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76232414	76232414	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtatttagtgattacccAaccagctgaaatgaatgtta	7	7	0	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr14:76232414A>C	ENST00000298832.9	+	20	1923	c.1718A>C	c.(1717-1719)cAa>cCa	p.Q573P	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q124P|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q587P|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q82P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	573					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGATTACCCAACCAGCTGAA	0.393																																					p.Q573P		.											.	TTLL5-92	0			c.A1718C						.						71	69	69					14																	76232414		2203	4300	6503	SO:0001583	missense	23093	exon20			TTACCCAACCAGC	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1718A>C	14.37:g.76232414A>C	ENSP00000298832:p.Gln573Pro	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	62	29	NM_015072	0	0	0	0	0	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280409	0.40294	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.26957	3.9;3.96;1.7;1.75	5.02	3.88	0.44766	.	1.165510	0.06215	N	0.685711	T	0.21103	0.0508	L	0.40543	1.245	0.35195	D	0.773717	B;P;B	0.49358	0.256;0.923;0.052	B;B;B	0.36608	0.176;0.229;0.053	T	0.30937	-0.9961	10	0.52906	T	0.07	.	8.5864	0.33660	0.9109:0.0:0.0891:0.0	.	587;124;573	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	P	260;587;573;124;124;82	ENSP00000450713:Q587P;ENSP00000298832:Q573P;ENSP00000452524:Q124P;ENSP00000451946:Q82P	ENSP00000298832:Q573P	Q	+	2	0	TTLL5	75302167	0.938000	0.31826	1.000000	0.80357	0.995000	0.86356	4.388000	0.59633	1.910000	0.55303	0.378000	0.23410	CAA	.		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		C	76232414	A	C	76232414	3	2	39	1	0	0	0	0	1	0	0	0	16779	130	5	5	1792	5	TTLL5	14	76232414	Missense_Mutation	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	23711765	76232414	31117126	70	8990											
SEL1L	6400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81961479	81961479	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcagttgtccaagaccAacctgaaaatgatcacaaac	8	10	1	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr14:81961479A>C	ENST00000336735.4	-	11	1247	c.1131T>G	c.(1129-1131)gtT>gtG	p.V377V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	377	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)		GTCCAAGACCAACCTGAAAAT	0.438																																					p.V377V		.											.	SEL1L-227	0			c.T1131G						.						119	93	102					14																	81961479		2203	4300	6503	SO:0001819	synonymous_variant	6400	exon11			AAGACCAACCTGA		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.1131T>G	14.37:g.81961479A>C		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	110	21	NM_005065	0	0	0	0	0	Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	ENST00000336735.4	37	CCDS9876.1																																																																																			.		0.438	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		C	81961479	A	C	81961479	2	2	39	1	0	0	0	0	0	0	0	1	14055	117	5	5		5	SEL1L	14	81961479	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	5729065	81961479	25388061	71	8991											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105407448	105407448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggagagagaatagaagaTtcaaagtgaggaccagtgag	15	4	1	6			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr14:105407448T>C	ENST00000333244.5	-	7	14459	c.14340A>G	c.(14338-14340)gaA>gaG	p.E4780E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4780						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)			GAATAGAAGATTCAAAGTGAG	0.493																																					p.E4780E		.											.	AHNAK2-47	0			c.A14340G						.						93	98	96					14																	105407448		1941	4133	6074	SO:0001819	synonymous_variant	113146	exon7			AGAAGATTCAAAG	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.14340A>G	14.37:g.105407448T>C		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	252	84	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.		0.493	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105407448	T	C	105407448	2	2	39	1	0	0	0	0	0	0	0	1	415	1490	52	4		4	AHNAK2	14	105407448	Silent	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	23445969	105407448	1942092	72	8992											
PCSK6	5046	bcgsc.ca	37	chr15	101922323	101922323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtccgaggcggccacAcacatgtgctgcgatggcac	12	14	1	0	rs1058260	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr15:101922323A>G	ENST00000348070.1	-	12	1502	c.1503T>C	c.(1501-1503)tgT>tgC	p.C501C	PCSK6_ENST00000358417.3_Silent_p.C501C|PCSK6_ENST00000398181.2_Silent_p.C501C|PCSK6_ENST00000331826.7_Silent_p.C336C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.C501C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	502					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)			AGGCGGCCACACACATGTGCT	0.537													A|||	1181	0.235823	0.2874	0.2305	5008	,	,		21150	0.125		0.2575	False		,,,				2504	0.2618				.		.											.	PCSK6-46	0			.						.	A	,,,,,,	1161,3203		154,853,1175	59	65	63		1504,1504,1504,1504,1504,1504,1504	-9.1	0	15	dbSNP_86	63	2067,6481		248,1571,2455	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCSK6	NM_002570.3,NM_138319.2,NM_138320.1,NM_138321.1,NM_138323.1,NM_138324.1,NM_138325.2	,,,,,,	402,2424,3630	GG,GA,AA		24.1811,26.604,25.0	,,,,,,	502/970,502/957,502/976,502/963,502/624,502/653,502/665	101922323	3228,9684	2182	4274	6456	SO:0001819	synonymous_variant	5046	.			GGCCACACACATG		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.1503T>C	15.37:g.101922323A>G		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	93	5	.	0	0	11	11	0	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37																																																																																				A|0.764;G|0.236		0.537	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		G	101922323	A	G	101922323	2	3	39	1	0	0	0	0	0	0	0	1	11643	157	6	4		4	PCSK6	15	101922323	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10		101922323	609069	73	8993											
CLCN7	1186	bcgsc.ca	37	chr16	1500501	1500501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccggccccactcaccgcCgcccccgtgaggtaggacag	11	20	1	1	rs117461525	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr16:1500501C>T	ENST00000382745.4	-	17	2219	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.A514A|CLCN7_ENST00000262318.8_Silent_p.A514A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	538					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CACTCACCGCCGCCCCCGTGA	0.697													C|||	187	0.0373403	0.0189	0.0749	5008	,	,		11861	0		0.0875	False		,,,				2504	0.0225				p.A538A		.											.	CLCN7-92	0			c.G1614A						.	C	,	145,4175		2,141,2017	15	18	17		1542,1614	-9	0.9	16	dbSNP_132	17	851,7713		35,781,3466	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	37,922,5483	TT,TC,CC		9.9369,3.3565,7.7305	,	514/782,538/806	1500501	996,11888	2160	4282	6442	SO:0001819	synonymous_variant	1186	exon17			CACCGCCGCCCCC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1614G>A	16.37:g.1500501C>T		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_001287	0	0	1	1	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			C|0.940;T|0.060		0.697	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1500501	C	T	1500501	2	4	39	1	0	0	0	0	0	0	0	1	3475	639	23	1		1	CLCN7	16	1500501	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		1500501	88854252	74	8994											
CLCN7	1186	bcgsc.ca	37	chr16	1502857	1502857	+	Missense_Mutation	SNP	C	C	T													cgtgacggcggccaccagcaCggcctcaatcacctgcaggc					rs12926089	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr16:1502857C>T	ENST00000382745.4	-	15	1857	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.V394M|CLCN7_ENST00000262318.8_Missense_Mutation_p.V394M	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	418			V -> M (in dbSNP:rs12926089). {ECO:0000269|PubMed:14584882}.		chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCCACCAGCACGGCCTCAATC	0.677													T|||	395	0.0788738	0.1604	0.0951	5008	,	,		15111	0		0.0924	False		,,,				2504	0.0245				p.V418M		.											.	CLCN7-92	0			c.G1252A	GRCh37	CM057585	CLCN7	M	rs12926089	.	T	MET/VAL,MET/VAL	711,3631		63,585,1523	14	14	14		1180,1252	2.9	1	16	dbSNP_121	14	887,7653		48,791,3431	yes	missense,missense	CLCN7	NM_001114331.1,NM_001287.4	21,21	111,1376,4954	TT,TC,CC		10.3864,16.3749,12.4049	benign,benign	394/782,418/806	1502857	1598,11284	2171	4270	6441	SO:0001583	missense	1186	exon15			CCAGCACGGCCTC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1252G>A	16.37:g.1502857C>T	ENSP00000372193:p.Val418Met	Somatic	249	3		WXS	Illumina GAIIx	Phase_I	189	9	NM_001287	0	0	4	4	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	200	0.09157509157509157	83	0.16869918699186992	38	0.10497237569060773	0	0.0	79	0.10422163588390501	T	0.173	-1.069814	0.01918	0.163749	0.103864	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94723	-3.5;-3.5	5.15	2.86	0.33363	Chloride channel, core (2);	0.115098	0.85682	N	0.000000	T	0.01320	0.0043	N	0.16862	0.45	0.53005	P	3.799999999998249E-5	B;B	0.16603	0.018;0.005	B;B	0.17722	0.019;0.007	T	0.44267	-0.9339	9	0.23302	T	0.38	-20.2438	8.1552	0.31165	0.0:0.2533:0.0:0.7467	rs12926089;rs59307144;rs12926089	394;418	E9PDB9;P51798	.;CLCN7_HUMAN	M	394;371;418;360	ENSP00000410907:V394M;ENSP00000372193:V418M	ENSP00000262318:V371M	V	-	1	0	CLCN7	1442858	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	1.084000	0.30828	0.005000	0.14708	-0.361000	0.07541	GTG	C|0.889;T|0.111		0.677	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1502857	C	T	1502857	3	4	39	1	0	0	0	0	1	0	0	0	3475	536	19	1	1209	1	CLCN7	16	1502857	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	2356	1502857	88851896	75	8995	84	2									
CLCN7	1186	bcgsc.ca	37	chr16	1502864	1502864	+	Silent	SNP	A	A	G													gcggccaccagcacggcctcAatcacctgcaggcagggccg					rs12926669	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr16:1502864A>G	ENST00000382745.4	-	15	1850	c.1245T>C	c.(1243-1245)atT>atC	p.I415I	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.I391I|CLCN7_ENST00000262318.8_Silent_p.I391I	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	415				I -> V (in Ref. 2; BAG51745). {ECO:0000305}.	chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCACGGCCTCAATCACCTGCA	0.672													G|||	311	0.0621006	0.1051	0.0836	5008	,	,		15014	0		0.0895	False		,,,				2504	0.0245				p.I415I		.											.	CLCN7-92	0			c.T1245C						.	G	,	496,3848		24,448,1700	14	14	14		1173,1245	-10.3	0.1	16	dbSNP_121	14	846,7700		39,768,3466	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	63,1216,5166	GG,GA,AA		9.8994,11.418,10.4112	,	391/782,415/806	1502864	1342,11548	2172	4273	6445	SO:0001819	synonymous_variant	1186	exon15			GGCCTCAATCACC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1245T>C	16.37:g.1502864A>G		Somatic	256	2		WXS	Illumina GAIIx	Phase_I	192	8	NM_001287	0	0	5	5	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			A|0.912;G|0.088		0.672	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		G	1502864	A	G	1502864	2	3	39	1	0	0	0	0	0	0	0	1	3475	126	5	4		4	CLCN7	16	1502864	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	7	1502864	88851889	76	8996	84	2									
ERI2	112479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	20810279	20810279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttattatatttttaggctcCttattatatatgctgggacc	6	6	0	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr16:20810279C>T	ENST00000357967.4	-	9	885	c.843G>A	c.(841-843)aaG>aaA	p.K281K	ERI2_ENST00000300005.3_Intron|ERI2_ENST00000389345.5_Silent_p.K16K|ERI2_ENST00000563117.1_Silent_p.K188K|ERI2_ENST00000564349.1_Silent_p.K188K|ERI2_ENST00000569729.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	281							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTTTAGGCTCCTTATTATATA	0.328																																					p.K281K		.											.	ERI2-153	0			c.G843A						.						31	24	26					16																	20810279		692	1587	2279	SO:0001819	synonymous_variant	112479	exon9			AGGCTCCTTATTA	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.843G>A	16.37:g.20810279C>T		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	62	8	NM_001142725	0	0	1	2	1	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Silent	SNP	ENST00000357967.4	37	CCDS45436.1																																																																																			.		0.328	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		T	20810279	C	T	20810279	2	4	39	1	0	0	0	0	0	0	0	1	5244	680	24	3		3	ERI2	16	20810279	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	19307415	20810279	69544474	77	8997											
CES3	23491	bcgsc.ca	37	chr16	67006838	67006838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcaacccagtgccacgGgccggacagaagttcaggga	14	11	2	2	rs3848289	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr16:67006838G>A	ENST00000303334.4	+	13	1673	c.1602G>A	c.(1600-1602)cgG>cgA	p.R534R	CES3_ENST00000394037.1_Silent_p.R531R|CES3_ENST00000543856.1_Silent_p.R173R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	534						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGTGCCACGGGCCGGACAGA	0.572													G|||	216	0.043131	0.0015	0.0836	5008	,	,		19260	0.0675		0.0527	False		,,,				2504	0.0358				p.R534R		.											.	CES3-517	0			c.G1602A						.	G	,,	54,4346	52.9+/-88.7	0,54,2146	89	88	88		519,1593,1602	-7.4	0	16	dbSNP_108	88	419,8181	130.8+/-188.7	11,397,3892	no	coding-synonymous,coding-synonymous,coding-synonymous	CES3	NM_001185176.1,NM_001185177.1,NM_024922.5	,,	11,451,6038	AA,AG,GG		4.8721,1.2273,3.6385	,,	173/211,531/569,534/572	67006838	473,12527	2200	4300	6500	SO:0001819	synonymous_variant	23491	exon13			GCCACGGGCCGGA	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1602G>A	16.37:g.67006838G>A		Somatic	214	0		WXS	Illumina GAIIx	Phase_I	221	7	NM_024922	0	0	0	0	0	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	CCDS10826.1																																																																																			G|0.955;A|0.045		0.572	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		A	67006838	G	A	67006838	2	1	39	1	0	0	0	0	0	0	0	1	3278	1219	43	3		3	CES3	16	67006838	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	46196559	67006838	23347915	78	8998											
LSMD1	84316	bcgsc.ca	37	chr17	7760704	7760704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcccgtgctaaccccAgcactggagctgctctgacg	11	16	1	2	rs8522	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:7760704A>G	ENST00000335155.5	-	1	77	c.78T>C	c.(76-78)gcT>gcC	p.A26A	LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000333775.5_Missense_Mutation_p.L13P|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Intron			Q9BRA0	LSMD1_HUMAN		26					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				TGCTAACCCCAGCACTGGAGC	0.637													G|||	2185	0.436302	0.388	0.3905	5008	,	,		15269	0.7956		0.1948	False		,,,				2504	0.4121				p.L13P	GBM(66;626 1401 29924 42527)	.											.	LSMD1-91	0			c.T38C						.	G	PRO/LEU	1544,2862	641.0+/-397.4	272,1000,931	42	52	49		38	-5	0.9	17	dbSNP_52	49	1882,6718	711.5+/-405.8	209,1464,2627	yes	missense	LSMD1	NM_032356.3	98	481,2464,3558	GG,GA,AA		21.8837,35.0431,26.3417	benign	13/174	7760704	3426,9580	2203	4300	6503	SO:0001819	synonymous_variant	84316	exon1			AACCCCAGCACTG																												ENST00000335155.5:c.78T>C	17.37:g.7760704A>G		Somatic	180	1		WXS	Illumina GAIIx	Phase_I	97	5	NM_032356	0	0	1	1	0	Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37		874	0.4001831501831502	148	0.3008130081300813	127	0.35082872928176795	465	0.8129370629370629	134	0.17678100263852242	G	0.844	-0.740751	0.03088	0.350431	0.218837	ENSG00000183011	ENST00000333775	T	0.56444	0.46	5.65	-5.02	0.02982	.	0.196677	0.25469	N	0.030450	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999877715	B	0.02656	0.0	B	0.01281	0.0	T	0.32161	-0.9917	8	0.11794	T	0.64	.	3.8358	0.08893	0.5487:0.1141:0.2209:0.1162	rs8522;rs1129549;rs3826332;rs11551746;rs17855012;rs52822583;rs58072623;rs8522	13	Q9BRA0-2	.	P	13	ENSP00000332103:L13P	ENSP00000332103:L13P	L	-	2	0	LSMD1	7701429	0.911000	0.30947	0.947000	0.38551	0.581000	0.36288	-0.339000	0.07832	-0.670000	0.05282	-0.916000	0.02749	CTG	A|0.678;G|0.322		0.637	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				G	7760704	A	G	7760704	2	3	39	1	0	0	0	0	0	0	0	1	9097	188	7	4		4	LSMD1	17	7760704	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10		7760704	73434506	79	8999											
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	10358566	10358566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcagaagccttcttgctgtCaatgaactgaccctctggga	9	12	4	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:10358566C>T	ENST00000255381.2	-	20	2331	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	741	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTTGCTGTCAATGAACTGA	0.378																																					p.D741N		.											.	MYH4-102	0			c.G2221A						.						87	86	86					17																	10358566		2203	4300	6503	SO:0001583	missense	4622	exon20			TGCTGTCAATGAA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2221G>A	17.37:g.10358566C>T	ENSP00000255381:p.Asp741Asn	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	62	6	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955069	0.92726	.	.	ENSG00000141048	ENST00000255381	T	0.73258	-0.73	5.22	5.22	0.72569	Myosin head, motor domain (2);	0.000000	0.39146	U	0.001447	D	0.86632	0.5979	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88451	0.3049	10	0.66056	D	0.02	.	19.1318	0.93410	0.0:1.0:0.0:0.0	.	741	Q9Y623	MYH4_HUMAN	N	741	ENSP00000255381:D741N	ENSP00000255381:D741N	D	-	1	0	MYH4	10299291	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.689000	0.84165	2.600000	0.87896	0.313000	0.20887	GAC	.		0.378	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10358566	C	T	10358566	3	4	39	1	0	0	0	0	1	0	0	0	10075	826	29	3	3682	3	MYH4	17	10358566	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	2597862	10358566	70836644	80	9000											
ELAC2	60528	hgsc.bcm.edu;broad.mit.edu	37	chr17	12905890	12905890	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accaagtgctgggtgtcaggCccaaacctgtgaagaaacag	12	10	1	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:12905890C>G	ENST00000338034.4	-	13	1325	c.1086G>C	c.(1084-1086)ggG>ggC	p.G362G	ELAC2_ENST00000395962.2_Silent_p.G343G|ELAC2_ENST00000426905.3_Silent_p.G322G|ELAC2_ENST00000609345.1_5'Flank	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	362					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGGTGTCAGGCCCAAACCTGT	0.552											OREG0024189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G362G		.											.	ELAC2-90	0			c.G1086C						.						95	89	91					17																	12905890		2203	4300	6503	SO:0001819	synonymous_variant	60528	exon13			GTCAGGCCCAAAC	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1086G>C	17.37:g.12905890C>G		Somatic	162	0	683	WXS	Illumina GAIIx	Phase_I	97	5	NM_173717	0	0	0	0	0	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.003000	0.19121	.	.	ENSG00000006744	ENST00000446899	.	.	.	5.37	0.253	0.15551	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	-32.5929	4.644	0.12563	0.1316:0.3393:0.4406:0.0885	.	.	.	.	P	142	.	.	A	-	1	0	ELAC2	12846615	0.046000	0.20272	1.000000	0.80357	0.885000	0.51271	-1.317000	0.02707	0.304000	0.22809	0.561000	0.74099	GCC	.		0.552	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			G	12905890	C	G	12905890	2	3	39	1	0	0	0	0	0	0	0	1	5063	726	26	3		3	ELAC2	17	12905890	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	2547324	12905890	68289320	81	9001											
ELAC2	60528	bcgsc.ca	37	chr17	12915009	12915009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtggctcattttcattcGactcggagtctgaagatcgc	12	9	3	2	rs4792311	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:12915009G>A	ENST00000338034.4	-	7	889	c.650C>T	c.(649-651)tCg>tTg	p.S217L	ELAC2_ENST00000395962.2_Missense_Mutation_p.S198L|ELAC2_ENST00000426905.3_Intron|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	217			S -> L (in HPC2; does not affect the enzymatic activity; dbSNP:rs4792311). {ECO:0000269|PubMed:10986046, ECO:0000269|PubMed:11175785, ECO:0000269|PubMed:11522646, ECO:0000269|PubMed:12515253, ECO:0000269|PubMed:12522685, ECO:0000269|PubMed:12783937, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18987736, ECO:0000269|Ref.3}.		mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ATTTTCATTCGACTCGGAGTC	0.478													G|||	1074	0.214457	0.233	0.245	5008	,	,		20610	0.0347		0.3151	False		,,,				2504	0.2495				p.S217L		.											.	ELAC2-90	0			c.C650T	GRCh37	CM010219	ELAC2	M	rs4792311	.	G	,LEU/SER,LEU/SER	1034,3372	382.5+/-324.5	119,796,1288	186	159	168	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,650,650	3.2	0	17	dbSNP_111	168	2552,6048	416.5+/-352.1	391,1770,2139	yes	intron,missense,missense	ELAC2	NM_001165962.1,NM_018127.6,NM_173717.1	,145,145	510,2566,3427	AA,AG,GG		29.6744,23.468,27.5719	,benign,benign	,217/827,217/826	12915009	3586,9420	2203	4300	6503	SO:0001583	missense	60528	exon7			TCATTCGACTCGG	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.650C>T	17.37:g.12915009G>A	ENSP00000337445:p.Ser217Leu	Somatic	185	3		WXS	Illumina GAIIx	Phase_I	93	6	NM_173717	0	0	5	5	0	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	450	0.20604395604395603	102	0.2073170731707317	85	0.23480662983425415	15	0.026223776223776224	248	0.32717678100263853	G	9.668	1.146016	0.21288	0.23468	0.296744	ENSG00000006744	ENST00000338034;ENST00000395962	T;T	0.65916	-0.16;-0.18	4.2	3.23	0.37069	.	0.515394	0.21989	N	0.066197	T	0.00012	0.0000	M	0.64997	1.995	0.53688	P	2.6999999999999247E-5	B;P;P;B	0.39782	0.05;0.488;0.688;0.356	B;B;B;B	0.29785	0.015;0.075;0.107;0.023	T	0.29882	-0.9997	9	0.12103	T	0.63	-1.3048	8.0532	0.30589	0.1087:0.0:0.8913:0.0	rs4792311;rs17849809;rs17857665;rs61070692;rs4792311	200;198;40;217	E9PGJ0;G5E9D5;E7ES68;Q9BQ52	.;.;.;RNZ2_HUMAN	L	217;198	ENSP00000337445:S217L;ENSP00000379291:S198L	ENSP00000337445:S217L	S	-	2	0	ELAC2	12855734	0.065000	0.20965	0.002000	0.10522	0.003000	0.03518	3.696000	0.54757	1.372000	0.46190	-0.148000	0.13756	TCG	G|0.755;A|0.245		0.478	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			A	12915009	G	A	12915009	3	1	39	1	0	0	0	0	1	0	0	0	5063	1059	37	1	1902	1	ELAC2	17	12915009	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	9119	12915009	68280201	82	9002											
FOXN1	8456	broad.mit.edu	37	chr17	26862078	26862078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgcctctgcctgcccacAccccacccagccacagtgcc	6	23	1	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:26862078A>C	ENST00000226247.2	+	7	1518	c.1489A>C	c.(1489-1491)Acc>Ccc	p.T497P	FOXN1_ENST00000579795.1_Missense_Mutation_p.T497P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	497					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCTGCCCACACCCCACCCAG	0.682																																					p.T497P		.											.	FOXN1-226	0			c.A1489C						.						36	34	35					17																	26862078		2203	4300	6503	SO:0001583	missense	8456	exon7			GCCCACACCCCAC	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1489A>C	17.37:g.26862078A>C	ENSP00000226247:p.Thr497Pro	Somatic	74	8		WXS	Illumina GAIIx	Phase_I	96	14	NM_003593	0	0	0	0	0	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160710	0.57368	.	.	ENSG00000109101	ENST00000226247	D	0.94138	-3.36	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000004	D	0.94499	0.8229	M	0.73217	2.22	0.43714	D	0.996189	D	0.67145	0.996	P	0.56788	0.806	D	0.94411	0.7632	10	0.72032	D	0.01	.	9.7494	0.40466	0.8456:0.0:0.0:0.1544	.	497	O15353	FOXN1_HUMAN	P	497	ENSP00000226247:T497P	ENSP00000226247:T497P	T	+	1	0	FOXN1	23886205	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.158000	0.50723	1.826000	0.53198	0.459000	0.35465	ACC	.		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			C	26862078	A	C	26862078	3	2	39	1	0	0	0	0	1	0	0	0	6043	159	6	5	1515	5	FOXN1	17	26862078	Missense_Mutation	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	13947069	26862078	54333132	83	9003											
GPS1	2873	bcgsc.ca	37	chr17	80012449	80012449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccagccctggacacGgcctgggtggaggccacgcg	16	16	0	0	rs11077966	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr17:80012449G>A	ENST00000306823.6	+	4	407	c.384G>A	c.(382-384)acG>acA	p.T128T	GPS1_ENST00000578552.1_Silent_p.T124T|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000355130.2_Silent_p.T164T|GPS1_ENST00000392358.2_Silent_p.T164T|GPS1_ENST00000320548.4_Silent_p.T108T			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	128					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)			CCCTGGACACGGCCTGGGTGG	0.637													.|||	490	0.0978435	0.1377	0.0879	5008	,	,		16365	0.0833		0.0994	False		,,,				2504	0.0644				p.T164T		.											.	GPS1-226	0			c.G492A						.	G	,	544,3834		36,472,1681	22	20	21		384,492	-7.2	0.9	17	dbSNP_120	21	701,7887		25,651,3618	no	coding-synonymous,coding-synonymous	GPS1	NM_004127.4,NM_212492.1	,	61,1123,5299	AA,AG,GG		8.1626,12.4258,9.602	,	128/492,164/528	80012449	1245,11721	2189	4294	6483	SO:0001819	synonymous_variant	2873	exon4			GGACACGGCCTGG		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.384G>A	17.37:g.80012449G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_212492	0	0	41	41	0	Q8NA10|Q9BWL1	Silent	SNP	ENST00000306823.6	37	CCDS32774.1																																																																																			G|0.901;A|0.099		0.637	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		A	80012449	G	A	80012449	2	1	39	1	0	0	0	0	0	0	0	1	6759	1103	39	1		1	GPS1	17	80012449	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	53150371	80012449	1182761	84	9004											
LAMA1	284217	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	7011370	7011370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgctgccggacggtggCggcatccagcaggaagtcgg	18	10	0	0	rs202168119		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr18:7011370C>T	ENST00000389658.3	-	25	3709	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1206	Laminin IV type A 2. {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)				CGGACGGTGGCGGCATCCAGC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		12340	0		0	False		,,,				2504	0				p.A1206T		.											.	LAMA1-149	0			c.G3616A						.						23	24	24					18																	7011370		2203	4300	6503	SO:0001583	missense	284217	exon25			CGGTGGCGGCATC	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.3616G>A	18.37:g.7011370C>T	ENSP00000374309:p.Ala1206Thr	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	194	38	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.943	0.743262	0.15642	.	.	ENSG00000101680	ENST00000389658	T	0.16457	2.34	5.87	0.704	0.18121	Laminin B type IV (1);	0.919613	0.09120	N	0.845811	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	P	0.41784	0.762	B	0.22880	0.042	T	0.31943	-0.9925	10	0.15066	T	0.55	.	6.5622	0.22493	0.2181:0.6043:0.0:0.1777	.	1206	P25391	LAMA1_HUMAN	T	1206	ENSP00000374309:A1206T	ENSP00000374309:A1206T	A	-	1	0	LAMA1	7001370	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.397000	0.07269	0.083000	0.17047	0.643000	0.83706	GCC	C|0.999;T|0.000		0.637	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7011370	C	T	7011370	3	4	39	1	0	0	0	0	1	0	0	0	8633	768	27	1	5767	1	LAMA1	18	7011370	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		7011370	71065878	85	9005											
LAMA1	284217	broad.mit.edu	37	chr18	7034664	7034664	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgacagaccctcagccTgtgtgcttaaagtgagtccg	11	11	1	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr18:7034664T>A	ENST00000389658.3	-	14	1958	c.1865A>T	c.(1864-1866)cAg>cTg	p.Q622L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	622	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)				ACCCTCAGCCTGTGTGCTTAA	0.333																																					p.Q622L		.											.	LAMA1-149	0			c.A1865T						.						114	103	107					18																	7034664		2203	4300	6503	SO:0001583	missense	284217	exon14			TCAGCCTGTGTGC	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.1865A>T	18.37:g.7034664T>A	ENSP00000374309:p.Gln622Leu	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	121	4	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497375	0.26861	.	.	ENSG00000101680	ENST00000389658	T	0.34667	1.35	5.9	1.15	0.20763	Laminin B type IV (2);Laminin B, subgroup (1);	0.567679	0.16609	N	0.206962	T	0.13114	0.0318	N	0.02916	-0.46	0.24700	N	0.993264	B	0.23249	0.082	B	0.24701	0.055	T	0.33650	-0.9860	10	0.11485	T	0.65	.	7.7173	0.28712	0.0:0.5235:0.0:0.4765	.	622	P25391	LAMA1_HUMAN	L	622	ENSP00000374309:Q622L	ENSP00000374309:Q622L	Q	-	2	0	LAMA1	7024664	1.000000	0.71417	0.988000	0.46212	0.788000	0.44548	1.852000	0.39348	0.518000	0.28383	0.533000	0.62120	CAG	.		0.333	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7034664	T	A	7034664	3	1	39	1	0	0	0	0	1	0	0	0	8633	1580	55	5	7562	5	LAMA1	18	7034664	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	23294	7034664	71042584	86	9006											
C3	718	bcgsc.ca	37	chr19	6710782	6710782	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcggtggtgatggacagGggcagcaccaccaggtcctg	16	10	0	1	rs2230203	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:6710782G>T	ENST00000245907.6	-	13	1646	c.1554C>A	c.(1552-1554)ccC>ccA	p.P518P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	518					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)	TGATGGACAGGGGCAGCACCA	0.657													G|||	319	0.0636981	0.0098	0.0807	5008	,	,		17642	0.003		0.1859	False		,,,				2504	0.0613				p.P518P		.											.	C3-95	0			c.C1554A						.	G		159,4247	104.7+/-143.2	1,157,2045	64	63	63		1554	-10.4	0	19	dbSNP_98	63	1579,7021	287.5+/-298.3	136,1307,2857	no	coding-synonymous	C3	NM_000064.2		137,1464,4902	TT,TG,GG		18.3605,3.6087,13.3631		518/1664	6710782	1738,11268	2203	4300	6503	SO:0001819	synonymous_variant	718	exon13			GGACAGGGGCAGC	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.1554C>A	19.37:g.6710782G>T		Somatic	258	2		WXS	Illumina GAIIx	Phase_I	275	9	NM_000064	0	0	3	4	1	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			G|0.888;T|0.112		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6710782	G	T	6710782	2	4	39	1	0	0	0	0	0	0	0	1	2211	1219	43	3		3	C3	19	6710782	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10		6710782	52418201	87	9007											
PRDX2	7001	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	12907982	12907983	+	Splice_Site	DEL	TG	TG	-													ttccagccagcgggacaaacTgtgggaagacacaaggatgc					rs534044309		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:12907982_12907983delTG	ENST00000301522.2	-	6	640		c.e6-2		PRDX2_ENST00000334482.5_Splice_Site|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2						cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGGGACAAACTGTGGGAAGACA	0.51											OREG0025274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		.											.	PRDX2-90	0			.						.																																			SO:0001630	splice_region_variant	7001	.			ACAAACTGTGGGA		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.512-2CA>-	19.37:g.12907984_12907985delTG		Somatic	116	0	683	WXS	Illumina GAIIx	Phase_I	155	17	.	0	0	0	0	0	A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Splice_Site	DEL	ENST00000301522.2	37	CCDS12281.1																																																																																			.		0.51	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809	Intron	-	12907983	TG	-	12907982	8	5	39	1	0	1	0	1	0	0	1	0	12507	1594	55	0	90	0	PRDX2	19	12907982	Splice_Site	DEL	TG	TCGA-OR-A5KX-01A-11D-A29I-10	6197200	12907982	46221001	88	9008											
IL27RA	9466	ucsc.edu;bcgsc.ca	37	chr19	14161650	14161650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacagcatctaccatcGctggacagggccctcctggt	13	13	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:14161650G>A	ENST00000263379.2	+	11	1608	c.1483G>A	c.(1483-1485)Gct>Act	p.A495T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	495	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						ATCTACCATCGCTGGACAGGG	0.592																																					p.A495T	Colon(164;1849 1896 4443 37792 47834)	.											.	IL27RA-90	0			c.G1483A						.						98	74	82					19																	14161650		2203	4300	6503	SO:0001583	missense	9466	exon11			ACCATCGCTGGAC	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1483G>A	19.37:g.14161650G>A	ENSP00000263379:p.Ala495Thr	Somatic	128	2		WXS	Illumina GAIIx	Phase_I	179	23	NM_004843	0	0	3	3	0	A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584207	0.46110	.	.	ENSG00000104998	ENST00000263379	T	0.57907	0.37	4.69	4.69	0.59074	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001318	T	0.61324	0.2338	L	0.32530	0.975	0.20074	N	0.999933	D	0.89917	1.0	D	0.83275	0.996	T	0.55289	-0.8164	10	0.72032	D	0.01	.	13.1198	0.59318	0.0:0.0:1.0:0.0	.	495	Q6UWB1	I27RA_HUMAN	T	495	ENSP00000263379:A495T	ENSP00000263379:A495T	A	+	1	0	IL27RA	14022650	0.807000	0.29009	0.138000	0.22173	0.034000	0.12701	3.006000	0.49529	2.151000	0.67156	0.461000	0.40582	GCT	.		0.592	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		A	14161650	G	A	14161650	3	1	39	1	0	0	0	0	1	0	0	0	7708	1087	38	1	1525	1	IL27RA	19	14161650	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	1253668	14161650	44967333	89	9009											
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	15300189	15300189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atttgtgtcacagatagcatCctcgtggcaggggttgctga	13	8	1	2			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:15300189C>G	ENST00000263388.2	-	7	1162	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	363	EGF-like 9. {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)			CAGATAGCATCCTCGTGGCAG	0.592																																					p.D363H		.											.	NOTCH3-855	0			c.G1087C						.						93	97	96					19																	15300189		2203	4300	6503	SO:0001583	missense	4854	exon7			TAGCATCCTCGTG	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.1087G>C	19.37:g.15300189C>G	ENSP00000263388:p.Asp363His	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	543	43	NM_000435	0	0	0	0	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129093	0.77549	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92911	-3.13	4.68	4.68	0.58851	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93488	0.7922	L	0.33093	0.98	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.981	D	0.94519	0.7725	9	0.72032	D	0.01	.	16.4553	0.84011	0.0:1.0:0.0:0.0	.	366;363	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	363;365	ENSP00000263388:D363H	ENSP00000263388:D363H	D	-	1	0	NOTCH3	15161189	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.336000	0.79245	2.175000	0.68902	0.306000	0.20318	GAT	.		0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15300189	C	G	15300189	3	3	39	1	0	0	0	0	1	0	0	0	10589	855	30	3	5986	3	NOTCH3	19	15300189	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	1138539	15300189	43828794	90	9010											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_012088	0	0	0	1	1		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	39	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	2322425	17622614	41506369	91	9011											
KIAA1683	80726	broad.mit.edu	37	chr19	18375608	18375608	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacctccttggacagGgcctggttcagagctgccca	12	15	1	1	rs8102923	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:18375608G>A	ENST00000600328.3	-	3	2810				KIAA1683_ENST00000600359.3_Intron|KIAA1683_ENST00000392413.4_Silent_p.A914A			Q9H0B3	K1683_HUMAN	KIAA1683							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						CCTTGGACAGGGCCTGGTTCA	0.632													G|||	1504	0.300319	0.4561	0.2478	5008	,	,		18615	0.3165		0.1581	False		,,,				2504	0.2566				p.A914A		.											.	KIAA1683-92	0			c.C2742T						.	G	,,	593,791		121,351,220	29	32	31		2742,,	1	1	19	dbSNP_116	31	517,2665		42,433,1116	no	coding-synonymous,intron,intron	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	163,784,1336	AA,AG,GG		16.2476,42.8468,24.3101	,,	914/1368,,	18375608	1110,3456	692	1591	2283	SO:0001627	intron_variant	80726	exon3			GGACAGGGCCTGG	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.2616+125C>T	19.37:g.18375608G>A		Somatic	155	2		WXS	Illumina GAIIx	Phase_I	140	5	NM_001145304	0	0	1	1	0	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	CCDS32958.1																																																																																			G|0.726;A|0.274		0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			A	18375608	G	A	18375608	1	1	39	0	1	0	0	0	0	0	0	0	8278	1219	43	3		3	KIAA1683	19	18375608	Intron	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	752994	18375608	40753375	92	9012											
MAG	4099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35800808	35800808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctggagtcccactgCgcggcagcccgagacacggt	12	17	0	1	rs200957534		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:35800808C>T	ENST00000392213.3	+	8	1422	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	MAG_ENST00000361922.4_Silent_p.C421C|MAG_ENST00000537831.2_Silent_p.C396C|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	421	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.C421C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTCCCACTGCGCGGCAGCCC	0.677																																					p.C421C		.											.	MAG-947	2	Substitution - coding silent(2)	large_intestine(2)	c.C1263T						.						65	72	70					19																	35800808		2203	4298	6501	SO:0001819	synonymous_variant	4099	exon8			CCACTGCGCGGCA	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1263C>T	19.37:g.35800808C>T		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	218	160	NM_080600	0	0	0	0	0	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																			.		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35800808	C	T	35800808	2	4	39	1	0	0	0	0	0	0	0	1	9198	776	27	1		1	MAG	19	35800808	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	17425200	35800808	23328175	93	9013											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	20	11	1	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		Somatic	43	6		WXS	Illumina GAIIx	Phase_I	87	21	NM_007254	0	0	28	31	3	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		C	50370408	T	C	50370408	2	2	39	1	0	0	0	0	0	0	0	1	12186	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	14569600	50370408	8758575	94	9014											
ASPDH	554235	hgsc.bcm.edu	37	chr19	51015404	51015404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcacccaggaggctcTgccagaaggccgtgacggtg	16	13	1	2	rs12977172	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:51015404T>C	ENST00000389208.4	-	6	858	c.797A>G	c.(796-798)cAg>cGg	p.Q266R	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.Q161R|ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	266			Q -> R (in dbSNP:rs12977172). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CAGGAGGCTCTGCCAGAAGGC	0.706													C|||	3986	0.795927	0.9728	0.7781	5008	,	,		10864	0.7143		0.6849	False		,,,				2504	0.7679				p.Q266R		.											.	ASPDH-90	0			c.A797G						.	C	ARG/GLN,ARG/GLN	3799,331		1771,257,37	6	9	8		482,797	1.9	1	19	dbSNP_121	8	5527,2593		1919,1689,452	no	missense,missense	ASPDH	NM_001024656.2,NM_001114598.1	43,43	3690,1946,489	CC,CT,TT		31.9335,8.0145,23.8694	benign,benign	161/179,266/284	51015404	9326,2924	2065	4060	6125	SO:0001583	missense	554235	exon6			AGGCTCTGCCAGA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.797A>G	19.37:g.51015404T>C	ENSP00000373860:p.Gln266Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	23	17	NM_001114598	0	0	0	0	0	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	1681	0.7696886446886447	481	0.9776422764227642	273	0.7541436464088398	412	0.7202797202797203	515	0.679419525065963	C	3.606	-0.080592	0.07141	0.919855	0.680665	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.39997	1.05;1.05	2.95	1.88	0.25563	Aspartate dehydrogenase (1);	1.158050	0.06646	N	0.761872	T	0.00012	0.0000	N	0.01705	-0.755	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30794	-0.9966	9	0.06099	T	0.92	-1.7519	4.8935	0.13738	0.0:0.6813:0.0:0.3187	rs12977172	266;161	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	161;266	ENSP00000366114:Q161R;ENSP00000373860:Q266R	ENSP00000366114:Q161R	Q	-	2	0	ASPDH	55707216	0.916000	0.31088	0.989000	0.46669	0.553000	0.35397	0.171000	0.16685	0.125000	0.18397	-0.355000	0.07637	CAG	T|0.228;C|0.772		0.706	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		C	51015404	T	C	51015404	3	2	39	1	0	0	0	0	1	0	0	0	1052	1580	55	4	62	4	ASPDH	19	51015404	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	644996	51015404	8113579	95	9015											
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51052015	51052015	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggggtggggagaagagccaGaggaagagcaatgccccgtg	19	7	0	4	rs190220944	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:51052015G>A	ENST00000599957.1	-	2	278	c.81C>T	c.(79-81)ctC>ctT	p.L27L	LRRC4B_ENST00000389201.3_Silent_p.L27L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	27					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGAAGAGCCAGAGGAAGAGCA	0.741													-|||	13	0.00259585	0	0.0029	5008	,	,		11668	0		0.0109	False		,,,				2504	0				p.L27L		.											.	LRRC4B-205	0			c.C81T						.	G		2,3512		0,2,1755	3	5	4		81	1	1	19		4	42,7618		0,42,3788	no	coding-synonymous	LRRC4B	NM_001080457.1		0,44,5543	AA,AG,GG		0.5483,0.0569,0.3938		27/714	51052015	44,11130	1757	3830	5587	SO:0001819	synonymous_variant	94030	exon2			GAGCCAGAGGAAG	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.81C>T	19.37:g.51052015G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	13	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																			G|0.995;A|0.005		0.741	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		A	51052015	G	A	51052015	2	1	39	1	0	0	0	0	0	0	0	1	9042	929	33	3		3	LRRC4B	19	51052015	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	36611	51052015	8076968	96	9016											
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51052073	51052073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggcagcggggggcacGgggagccgcgggcacgcgcc	23	14	0	0	rs142075522	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:51052073G>A	ENST00000599957.1	-	2	220	c.23C>T	c.(22-24)cCg>cTg	p.P8L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P8L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	8					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGGGGCACGGGGAGCCGCG	0.706													-|||	13	0.00259585	0	0.0029	5008	,	,		11306	0		0.0109	False		,,,				2504	0				p.P8L		.											.	LRRC4B-205	0			c.C23T						.	G	LEU/PRO	1,2957		0,1,1478	2	3	3		23	-2.3	1	19	dbSNP_134	3	29,6617		0,29,3294	yes	missense	LRRC4B	NM_001080457.1	98	0,30,4772	AA,AG,GG		0.4364,0.0338,0.3124	benign	8/714	51052073	30,9574	1479	3323	4802	SO:0001583	missense	94030	exon2			GGGCACGGGGAGC	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.23C>T	19.37:g.51052073G>A	ENSP00000471502:p.Pro8Leu	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	G	11.74	1.727840	0.30593	3.38E-4	0.004364	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57436	0.4	3.96	-2.31	0.06765	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.32949	D	0.51948	B	0.02656	0.0	B	0.01281	0.0	T	0.25117	-1.0141	9	0.17832	T	0.49	.	3.5379	0.07800	0.4111:0.0:0.4157:0.1732	.	8	Q9NT99	LRC4B_HUMAN	L	8	ENSP00000373853:P8L	ENSP00000373853:P8L	P	-	2	0	LRRC4B	55743885	0.001000	0.12720	0.985000	0.45067	0.986000	0.74619	-1.006000	0.03671	-0.402000	0.07633	-0.284000	0.09977	CCG	G|0.995;A|0.005		0.706	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		A	51052073	G	A	51052073	3	1	39	1	0	0	0	0	1	0	0	0	9042	1116	39	1	2126	1	LRRC4B	19	51052073	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	58	51052073	8076910	97	9017											
ZNF814	730051	ucsc.edu	37	chr19	58384739	58384739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgtagaatgaggttAcccttgtgactaaaacattt	10	6	0	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr19:58384739A>G	ENST00000435989.2	-	3	2253	c.2019T>C	c.(2017-2019)ggT>ggC	p.G673G	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	673					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GAATGAGGTTACCCTTGTGAC	0.403																																					p.G673G		.											.	.	0			c.T2019C						.						72	60	64					19																	58384739		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			GAGGTTACCCTTG		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2019T>C	19.37:g.58384739A>G		Somatic	229	1		WXS	Illumina GAIIx	Phase_I	318	2	NM_001144989	0	0	10	13	3	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384739	A	G	58384739	2	3	39	1	0	0	0	0	0	0	0	1	18224	378	14	4		4	ZNF814	19	58384739	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	7332666	58384739	744244	98	9018											
DDRGK1	65992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	3181069	3181069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgacaggtgagtttcCgctggcttctcgacaccttc	9	15	1	1	rs148502836		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr20:3181069C>T	ENST00000354488.3	-	3	384	c.327G>A	c.(325-327)gcG>gcA	p.A109A	DDRGK1_ENST00000380201.2_Silent_p.A109A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	109						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGTGAGTTTCCGCTGGCTTCT	0.567													C|||	1	0.000199681	0	0	5008	,	,		19538	0		0	False		,,,				2504	0.001				p.A109A		.											.	DDRGK1-90	0			c.G327A						.	C		1,4403		0,1,2201	66	57	60		327	-6.4	0.1	20	dbSNP_134	60	0,8588		0,0,4294	no	coding-synonymous	DDRGK1	NM_023935.1		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		109/315	3181069	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	65992	exon3			AGTTTCCGCTGGC	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.327G>A	20.37:g.3181069C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	173	42	NM_023935	0	0	152	222	70	A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	ENST00000354488.3	37	CCDS13050.1																																																																																			C|1.000;T|0.000		0.567	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		T	3181069	C	T	3181069	2	4	39	1	0	0	0	0	0	0	0	1	4347	639	23	1		1	DDRGK1	20	3181069	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		3181069	59844451	99	9019											
MCM8	84515	ucsc.edu;bcgsc.ca	37	chr20	5939263	5939263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagagggacagtggttcGtgtcagtaatataaagcctc	11	7	2	1	rs373810010		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr20:5939263G>A	ENST00000378896.3	+	7	1057	c.680G>A	c.(679-681)cGt>cAt	p.R227H	MCM8_ENST00000378883.1_Missense_Mutation_p.R227H|MCM8_ENST00000378886.2_Missense_Mutation_p.R227H|MCM8_ENST00000265187.4_Missense_Mutation_p.R227H	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	227					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						ACAGTGGTTCGTGTCAGTAAT	0.403																																					p.R227H		.											.	MCM8-227	0			c.G680A						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	133	118	123		680,680	5.8	1	20		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	227/841,227/825	5939263	1,13005	2203	4300	6503	SO:0001583	missense	84515	exon7			TGGTTCGTGTCAG	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.680G>A	20.37:g.5939263G>A	ENSP00000368174:p.Arg227His	Somatic	170	3		WXS	Illumina GAIIx	Phase_I	213	133	NM_032485	0	0	0	2	2	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363806	0.95877	0.0	1.16E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.78	5.78	0.91487	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.996;0.968;0.996	T	0.62229	-0.6898	10	0.87932	D	0	-11.6392	20.0204	0.97499	0.0:0.0:1.0:0.0	.	227;227;227;227	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	H	227	ENSP00000368174:R227H;ENSP00000368161:R227H;ENSP00000368164:R227H;ENSP00000265187:R227H	ENSP00000265187:R227H	R	+	2	0	MCM8	5887263	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.630000	0.98420	2.729000	0.93468	0.650000	0.86243	CGT	.		0.403	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		A	5939263	G	A	5939263	3	1	39	1	0	0	0	0	1	0	0	0	9431	1145	40	1	702	1	MCM8	20	5939263	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	2758194	5939263	57086257	100	9020											
ZFP64	55734	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	50769031	50769031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtcagcaggacagccGgctgggtcattgcgcccgcc	17	13	2	0			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr20:50769031G>A	ENST00000216923.4	-	6	2049	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P565L|ZFP64_ENST00000346617.4_Missense_Mutation_p.P513L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	567					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						CAGGACAGCCGGCTGGGTCAT	0.682																																					p.P567L		.											.	ZFP64-155	0			c.C1700T						.						34	36	35					20																	50769031		2203	4300	6503	SO:0001583	missense	55734	exon6			ACAGCCGGCTGGG	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.1700C>T	20.37:g.50769031G>A	ENSP00000216923:p.Pro567Leu	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	100	35	NM_018197	0	0	8	15	7	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640648	0.29157	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.08102	3.13;3.18;3.13	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000046	T	0.06600	0.0169	L	0.29908	0.895	0.54753	D	0.999986	B;B;B	0.31817	0.341;0.231;0.231	B;B;B	0.19148	0.024;0.01;0.01	T	0.25467	-1.0131	10	0.07325	T	0.83	-25.9667	19.3237	0.94253	0.0:0.0:1.0:0.0	.	513;565;567	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	L	567;513;565;409	ENSP00000216923:P567L;ENSP00000344615:P513L;ENSP00000360570:P565L	ENSP00000216923:P567L	P	-	2	0	ZFP64	50202438	1.000000	0.71417	0.987000	0.45799	0.114000	0.19823	4.106000	0.57804	2.563000	0.86464	0.650000	0.86243	CCG	.		0.682	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		A	50769031	G	A	50769031	3	1	39	1	0	0	0	0	1	0	0	0	17700	1116	39	1	1540	1	ZFP64	20	50769031	Missense_Mutation	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	44829768	50769031	12256489	101	9021											
TXNRD2	10587	bcgsc.ca	37	chr22	19867771	19867771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacagccatactccagCggggtgaagacggtcgtggg	14	13	0	2	rs1139795	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr22:19867771C>T	ENST00000400521.1	-	14	1212	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	TXNRD2_ENST00000542719.1_Silent_p.P372P|TXNRD2_ENST00000400518.1_Silent_p.P372P|TXNRD2_ENST00000400519.1_Silent_p.P401P|TXNRD2_ENST00000535882.1_Silent_p.P401P	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	402					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)					CATACTCCAGCGGGGTGAAGA	0.627													C|||	1348	0.269169	0.6415	0.1729	5008	,	,		18114	0.0327		0.1581	False		,,,				2504	0.1922				.		.											.	TXNRD2-92	0			.						.	C		2405,1993	558.9+/-380.1	664,1077,458	44	57	53		1206	-9.4	0.1	22	dbSNP_86	53	1389,7209	261.2+/-283.7	122,1145,3032	no	coding-synonymous	TXNRD2	NM_006440.3		786,2222,3490	TT,TC,CC		16.1549,45.3161,29.1936		402/525	19867771	3794,9202	2199	4299	6498	SO:0001819	synonymous_variant	10587	.			CTCCAGCGGGGTG	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.1206G>A	22.37:g.19867771C>T		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	71	4	.	0	0	51	51	0	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	CCDS42981.1																																																																																			C|0.782;T|0.218		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		T	19867771	C	T	19867771	2	4	39	1	0	0	0	0	0	0	0	1	16857	755	27	1		1	TXNRD2	22	19867771	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		19867771	31436795	102	9022											
ZNF280A	129025	bcgsc.ca	37	chr22	22869085	22869085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtgagtcttctgttcCggctgcccatctcctttatg	11	11	3	1	rs61746878	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr22:22869085C>T	ENST00000302097.3	-	2	1122	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCTTCTGTTCCGGCTGCCCAT	0.388													C|||	74	0.0147764	0.003	0.0303	5008	,	,		20559	0		0.0388	False		,,,				2504	0.0102				p.P290P		.											.	ZNF280A-69	0			c.G870A						.	C		34,4372	39.2+/-71.8	0,34,2169	124	114	117		870	0.5	0	22	dbSNP_129	117	300,8300	109.2+/-169.8	3,294,4003	no	coding-synonymous	ZNF280A	NM_080740.3		3,328,6172	TT,TC,CC		3.4884,0.7717,2.568		290/543	22869085	334,12672	2203	4300	6503	SO:0001819	synonymous_variant	129025	exon2			CTGTTCCGGCTGC	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.870G>A	22.37:g.22869085C>T		Somatic	199	0		WXS	Illumina GAIIx	Phase_I	115	5	NM_080740	0	0	1	1	0		Silent	SNP	ENST00000302097.3	37	CCDS13800.1																																																																																			C|0.976;T|0.024		0.388	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		T	22869085	C	T	22869085	2	4	39	1	0	0	0	0	0	0	0	1	17862	639	23	1		1	ZNF280A	22	22869085	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	3001314	22869085	28435481	103	9023											
FBXO7	25793	broad.mit.edu	37	chr22	32881102	32881102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagaagtggaagttgagCggggtgtataagctgcagta	17	5	0	2	rs61752254	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr22:32881102C>T	ENST00000266087.7	+	4	1020	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXO7_ENST00000397426.1_Silent_p.S117S|FBXO7_ENST00000382058.3_Silent_p.S152S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	231	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGTTGAGCGGGGTGTATA	0.488													C|||	9	0.00179712	8e-04	0.0029	5008	,	,		18000	0		0.003	False		,,,				2504	0.0031				p.S231S		.											.	FBXO7-228	0			c.C693T						.	C	,	5,4401	9.9+/-24.2	0,5,2198	140	121	128		456,693	-10.8	0	22	dbSNP_129	128	48,8552	31.2+/-83.2	0,48,4252	no	coding-synonymous,coding-synonymous	FBXO7	NM_001033024.1,NM_012179.3	,	0,53,6450	TT,TC,CC		0.5581,0.1135,0.4075	,	152/444,231/523	32881102	53,12953	2203	4300	6503	SO:0001819	synonymous_variant	25793	exon4			GTTGAGCGGGGTG	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.693C>T	22.37:g.32881102C>T		Somatic	202	1		WXS	Illumina GAIIx	Phase_I	101	4	NM_012179	0	0	32	32	0	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	CCDS13907.1																																																																																			C|0.996;T|0.004		0.488	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			T	32881102	C	T	32881102	2	4	39	1	0	0	0	0	0	0	0	1	5782	767	27	1		1	FBXO7	22	32881102	Silent	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	10012017	32881102	18423464	104	9024											
SAMM50	25813	bcgsc.ca	37	chr22	44368204	44368204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttataacaccatggttggAaacaatgaaggcagtatggt	11	5	0	1	rs3177036	byFrequency	TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chr22:44368204A>G	ENST00000350028.4	+	5	568	c.411A>G	c.(409-411)ggA>ggG	p.G137G	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	137					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCATGGTTGGAAACAATGAAG	0.368													A|||	3483	0.695487	0.7496	0.5692	5008	,	,		18461	0.8185		0.5477	False		,,,				2504	0.7372				p.G137G		.											.	SAMM50-91	0			c.A411G						.	A		3090,1316	694.3+/-405.8	1093,904,206	127	117	120		411	-5.5	1	22	dbSNP_105	120	4254,4346	568.0+/-388.9	1058,2138,1104	no	coding-synonymous	SAMM50	NM_015380.4		2151,3042,1310	GG,GA,AA		49.4651,29.8684,43.5338		137/470	44368204	7344,5662	2203	4300	6503	SO:0001819	synonymous_variant	25813	exon5			GGTTGGAAACAAT	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.411A>G	22.37:g.44368204A>G		Somatic	219	1		WXS	Illumina GAIIx	Phase_I	110	6	NM_015380	0	0	16	16	0	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	CCDS14055.1																																																																																			A|0.383;G|0.617		0.368	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		G	44368204	A	G	44368204	2	3	39	1	0	0	0	0	0	0	0	1	13874	233	9	4		4	SAMM50	22	44368204	Silent	SNP	A	TCGA-OR-A5KX-01A-11D-A29I-10	11487102	44368204	6936362	105	9025											
SPIN2B	474343	hgsc.bcm.edu;bcgsc.ca	37	chrX	57146333	57146333	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atagatatggaaatcatcatCaaacttgatgaaatacacag	6	6	3	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chrX:57146333C>G	ENST00000333933.3	-	2	1040	c.730G>C	c.(730-732)Gat>Cat	p.D244H	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Missense_Mutation_p.D244H|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374912.5_Missense_Mutation_p.D244H|SPIN2B_ENST00000374910.3_Missense_Mutation_p.D143H	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	244					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						AAATCATCATCAAACTTGATG	0.383																																					p.D244H		.											.	SPIN2B-90	0			c.G730C						.						98	84	88					X																	57146333		2203	4299	6502	SO:0001583	missense	474343	exon2			CATCATCAAACTT	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.730G>C	X.37:g.57146333C>G	ENSP00000335008:p.Asp244His	Somatic	1499	2		WXS	Illumina GAIIx	Phase_I	1390	416	NM_001006683	0	0	4	4	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.194121	0.38707	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	2.61	2.61	0.31194	.	0.068006	0.56097	D	0.000037	T	0.51618	0.1685	L	0.60455	1.87	0.48696	D	0.999691	P	0.38788	0.647	P	0.49502	0.613	T	0.48293	-0.9048	10	0.30854	T	0.27	-6.8253	10.5947	0.45329	0.0:1.0:0.0:0.0	.	244	Q9BPZ2	SPI2B_HUMAN	H	244;244;143;244;244	ENSP00000275988:D244H;ENSP00000364047:D244H;ENSP00000364045:D143H;ENSP00000335008:D244H;ENSP00000404314:D244H	ENSP00000275988:D244H	D	-	1	0	SPIN2B	57163058	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	6.363000	0.73082	1.612000	0.50221	0.171000	0.16805	GAT	.		0.383	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681		G	57146333	C	G	57146333	3	3	39	1	0	0	0	0	1	0	0	0	15101	826	29	3	50	3	SPIN2B	23	57146333	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10		57146333	98124227	106	9026											
ZXDB	158586	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chrX	57619015	57619015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaccaggacctgctgttGcgctttgagaacggcgtcct	11	13	0	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chrX:57619015G>A	ENST00000374888.1	+	1	747	c.534G>A	c.(532-534)ttG>ttA	p.L178L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	178					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)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ACCTGCTGTTGCGCTTTGAGA	0.731																																					p.L178L		.											.	ZXDB-130	0			c.G534A						.						9	12	11					X																	57619015		2155	4160	6315	SO:0001819	synonymous_variant	158586	exon1			GCTGTTGCGCTTT	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.534G>A	X.37:g.57619015G>A		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	119	38	NM_007157	0	0	0	0	0	A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	CCDS35313.1																																																																																			.		0.731	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		A	57619015	G	A	57619015	2	1	39	1	0	0	0	0	0	0	0	1	18299	1310	46	3		3	ZXDB	23	57619015	Silent	SNP	G	TCGA-OR-A5KX-01A-11D-A29I-10	472682	57619015	97651545	107	9027											
HEPH	9843	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	65423292	65423292	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagtgtcctggccacCaagccacccctcgccaacgc	7	21	1	0	rs372982785		TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chrX:65423292C>T	ENST00000343002.2	+	12	2828	c.2164C>T	c.(2164-2166)Caa>Taa	p.Q722*	HEPH_ENST00000441993.2_Nonsense_Mutation_p.Q725*|HEPH_ENST00000519389.1_Nonsense_Mutation_p.Q776*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.Q725*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.Q455*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.Q533*			Q9BQS7	HEPH_HUMAN	hephaestin	722					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						TCCTGGCCACCAAGCCACCCC	0.537																																					p.Q776X		.											.	HEPH-135	0			c.C2326T						.						89	70	76					X																	65423292		2203	4300	6503	SO:0001587	stop_gained	9843	exon13			GGCCACCAAGCCA	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.2164C>T	X.37:g.65423292C>T	ENSP00000343939:p.Gln722*	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	237	12	NM_138737	0	0	0	0	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	C	18.47	3.631175	0.67015	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	4.58	1.5	0.22942	.	1.361120	0.04383	N	0.361100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.7643	0.23558	0.5001:0.3389:0.161:0.0	.	.	.	.	X	776;725;455;725;533;722;679	.	ENSP00000337418:Q455X	Q	+	1	0	HEPH	65340017	0.000000	0.05858	0.006000	0.13384	0.137000	0.21094	0.049000	0.14099	0.437000	0.26423	-0.222000	0.12452	CAA	.		0.537	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65423292	C	T	65423292	4	4	39	1	0	0	0	0	0	1	0	0	7081	595	21	3	2376	3	HEPH	23	65423292	Nonsense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	7804277	65423292	89847268	108	9028											
GUCY2F	2986	broad.mit.edu;bcgsc.ca	37	chrX	108635183	108635183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcatcaaagagtgtgTacaggtcattcagaagatcc	9	7	3	3			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chrX:108635183T>A	ENST00000218006.2	-	14	3029	c.2738A>T	c.(2737-2739)tAc>tTc	p.Y913F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	913	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGAGTGTGTACAGGTCATT	0.413																																					p.Y913F		.											.	GUCY2F-540	0			c.A2738T						.						112	92	99					X																	108635183		2203	4300	6503	SO:0001583	missense	2986	exon14			AGTGTGTACAGGT	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.2738A>T	X.37:g.108635183T>A	ENSP00000218006:p.Tyr913Phe	Somatic	474	1		WXS	Illumina GAIIx	Phase_I	489	23	NM_001522	0	0	0	0	0	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463646	0.63513	.	.	ENSG00000101890	ENST00000218006	D	0.82711	-1.64	4.33	3.16	0.36331	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.063406	0.64402	D	0.000004	D	0.85137	0.5628	L	0.42245	1.32	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	T	0.83216	-0.0071	10	0.54805	T	0.06	.	7.1745	0.25736	0.0:0.1102:0.0:0.8898	.	913	P51841	GUC2F_HUMAN	F	913	ENSP00000218006:Y913F	ENSP00000218006:Y913F	Y	-	2	0	GUCY2F	108521839	1.000000	0.71417	0.992000	0.48379	0.693000	0.40251	6.092000	0.71414	0.786000	0.33708	0.486000	0.48141	TAC	.		0.413	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108635183	T	A	108635183	3	1	39	1	0	0	0	0	1	0	0	0	6925	1638	57	5	612	5	GUCY2F	23	108635183	Missense_Mutation	SNP	T	TCGA-OR-A5KX-01A-11D-A29I-10	43211891	108635183	46635377	109	9029											
FRMD7	90167	broad.mit.edu;bcgsc.ca	37	chrX	131216403	131216403	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaattacctatagcggaaaCtggaacccttgctgcagagt	9	9	0	1			TCGA-OR-A5KX-01A-11D-A29I-10	TCGA-OR-A5KX-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8369398d-9d6a-48dd-b20d-4e699ceddc1b	4b83e274-a5a1-430f-8ea8-70a4a64581c9	g.chrX:131216403C>G	ENST00000298542.4	-	9	1068	c.893G>C	c.(892-894)aGt>aCt	p.S298T	FRMD7_ENST00000464296.1_Missense_Mutation_p.S283T|FRMD7_ENST00000370879.1_Missense_Mutation_p.S178T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	298					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448																																					p.S298T		.											.	FRMD7-228	0			c.G893C						.						297	291	293					X																	131216403		2203	4300	6503	SO:0001583	missense	90167	exon9			CGGAAACTGGAAC	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.893G>C	X.37:g.131216403C>G	ENSP00000298542:p.Ser298Thr	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	196	8	NM_194277	0	0	0	0	0	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653954	0.67472	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87029	-2.2;-2.2;-2.2	5.39	5.39	0.77823	FERM adjacent (FA) (1);	0.094087	0.64402	D	0.000001	D	0.90553	0.7039	L	0.59436	1.845	0.42989	D	0.994485	D;D	0.62365	0.986;0.991	P;D	0.65140	0.84;0.932	D	0.90935	0.4793	10	0.62326	D	0.03	.	10.9329	0.47228	0.0:0.9124:0.0:0.0876	.	283;298	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	178;298;283	ENSP00000359916:S178T;ENSP00000298542:S298T;ENSP00000417996:S283T	ENSP00000298542:S298T	S	-	2	0	FRMD7	131044084	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.226000	0.51254	2.392000	0.81423	0.600000	0.82982	AGT	.		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		G	131216403	C	G	131216403	3	3	39	1	0	0	0	0	1	0	0	0	6079	565	20	3	1267	3	FRMD7	23	131216403	Missense_Mutation	SNP	C	TCGA-OR-A5KX-01A-11D-A29I-10	22581220	131216403	24054157	110	9030											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003132	0	0	0	31	31	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	40	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10		11119899	238130722	1	9031											
XKR8	55113	hgsc.bcm.edu	37	chr1	28286666	28286666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgctcgacctgggcaCcgacctgtgggccgccgtcc	12	18	0	0	rs201643190		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:28286666C>T	ENST00000373884.5	+	1	694	c.86C>T	c.(85-87)aCc>aTc	p.T29I	RP11-460I13.2_ENST00000448015.1_RNA	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	29					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GACCTGGGCACCGACCTGTGG	0.766													C|||	1	0.000199681	0	0	5008	,	,		12236	0		0.001	False		,,,				2504	0				p.T29I		.											.	XKR8-90	0			c.C86T						.	C	ILE/THR	1,3561		0,1,1780	3	3	3		86	4.4	0.2	1		3	12,7300		0,12,3644	no	missense	XKR8	NM_018053.2	89	0,13,5424	TT,TC,CC		0.1641,0.0281,0.1196	benign	29/396	28286666	13,10861	1781	3656	5437	SO:0001583	missense	55113	exon1			TGGGCACCGACCT	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.86C>T	1.37:g.28286666C>T	ENSP00000362991:p.Thr29Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_018053	0	0	0	1	1		Missense_Mutation	SNP	ENST00000373884.5	37	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922685	0.52653	2.81E-4	0.001641	ENSG00000158156	ENST00000373884	T	0.63417	-0.04	4.37	4.37	0.52481	.	0.573872	0.17575	N	0.169335	T	0.52980	0.1768	L	0.43923	1.385	0.30799	N	0.740021	B	0.12013	0.005	B	0.06405	0.002	T	0.50882	-0.8775	10	0.20519	T	0.43	.	14.4545	0.67407	0.0:1.0:0.0:0.0	.	29	Q9H6D3	XKR8_HUMAN	I	29	ENSP00000362991:T29I	ENSP00000362991:T29I	T	+	2	0	XKR8	28159253	0.481000	0.25941	0.233000	0.24025	0.224000	0.24922	3.171000	0.50824	2.258000	0.74832	0.557000	0.71058	ACC	.		0.766	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		T	28286666	C	T	28286666	3	4	40	1	0	0	0	0	1	0	0	0	17486	507	18	3	88	3	XKR8	1	28286666	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	17166767	28286666	220963955	2	9032											
ZZZ3	26009	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	78098574	78098574	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtttagtcccttgaaaatCtgcatcattgtccactactg	6	11	2	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:78098574C>A	ENST00000370801.3	-	5	941	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	156					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCTTGAAAATCTGCATCATTG	0.398																																					p.D156Y		.											.	ZZZ3-157	0			c.G466T						.						163	163	163					1																	78098574		2203	4300	6503	SO:0001583	missense	26009	exon5			GAAAATCTGCATC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.466G>T	1.37:g.78098574C>A	ENSP00000359837:p.Asp156Tyr	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	159	14	NM_015534	0	0	4	4	0	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822561	0.32237	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.313359	0.34088	N	0.004270	T	0.55497	0.1924	L	0.43152	1.355	0.80722	D	1	P;P;P	0.50528	0.936;0.838;0.899	P;B;P	0.53809	0.735;0.372;0.576	T	0.50224	-0.8853	8	.	.	.	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	156;156;156	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Y	156	.	.	D	-	1	0	ZZZ3	77871162	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.580000	0.53907	2.649000	0.89929	0.650000	0.86243	GAT	.		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		A	78098574	C	A	78098574	3	1	40	1	0	0	0	0	1	0	0	0	18304	913	32	3	2289	3	ZZZ3	1	78098574	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	49811908	78098574	171152047	3	9033											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	40	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	75135127	153233701	96016920	4	9034											
KLHDC8A	55220	bcgsc.ca	37	chr1	205306590	205306590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggttgacacctcccacGgcgaggaggcagttcttgac	12	14	1	2	rs3210952	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:205306590G>A	ENST00000367156.3	-	9	1806	c.990C>T	c.(988-990)gcC>gcT	p.A330A	KLHDC8A_ENST00000537168.1_Silent_p.A217A|KLHDC8A_ENST00000460687.1_Silent_p.A196A|KLHDC8A_ENST00000367155.3_Silent_p.A330A|KLHDC8A_ENST00000539253.1_Silent_p.A330A	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTCCCACGGCGAGGAGGC	0.587													g|||	894	0.178514	0.0219	0.17	5008	,	,		19856	0.3383		0.2127	False		,,,				2504	0.1963				p.A330A		.											.	KLHDC8A-91	0			c.C990T						.	A		203,4203	126.6+/-163.6	1,201,2001	198	177	184		990	-10.9	0.2	1	dbSNP_105	184	1604,6996	299.3+/-304.4	151,1302,2847	no	coding-synonymous	KLHDC8A	NM_018203.1		152,1503,4848	AA,AG,GG		18.6512,4.6074,13.8936		330/351	205306590	1807,11199	2203	4300	6503	SO:0001819	synonymous_variant	55220	exon7			TCCCACGGCGAGG		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.990C>T	1.37:g.205306590G>A		Somatic	98	1		WXS	Illumina GAIIx	Phase_I	117	5	NM_001271864	0	0	23	23	0	B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	CCDS30985.1																																																																																			G|0.841;A|0.159		0.587	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		A	205306590	G	A	205306590	2	1	40	1	0	0	0	0	0	0	0	1	8389	1103	39	1		1	KLHDC8A	1	205306590	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	52072889	205306590	43944031	5	9035											
PLXNA2	5362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	208202216	208202216	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggggatgtccttggcataGagcagcttgttggaggggga	18	6	0	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr1:208202216G>C	ENST00000367033.3	-	30	6154	c.5397C>G	c.(5395-5397)ctC>ctG	p.L1799L	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1799					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)		CCTTGGCATAGAGCAGCTTGT	0.607																																					p.L1799L		.											.	PLXNA2-92	0			c.C5397G						.						106	103	104					1																	208202216		2203	4300	6503	SO:0001819	synonymous_variant	5362	exon30			GGCATAGAGCAGC	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.5397C>G	1.37:g.208202216G>C		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	171	152	NM_025179	0	0	1	1	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	CCDS31013.1																																																																																			.		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208202216	G	C	208202216	2	2	40	1	0	0	0	0	0	0	0	1	12159	929	33	3		3	PLXNA2	1	208202216	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	2895626	208202216	41048405	6	9036											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	40	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10		7005369	236194004	7	9037											
NT5C1B	93034	hgsc.bcm.edu	37	chr2	18766156	18766156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgacgcgggtggctggagcGagggctgcccggacagcggc	21	12	0	0	rs61742596	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:18766156G>T	ENST00000359846.2	-	5	604	c.527C>A	c.(526-528)tCg>tAg	p.S176*	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Nonsense_Mutation_p.S176*|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Nonsense_Mutation_p.S176*|NT5C1B_ENST00000304081.4_Nonsense_Mutation_p.S116*	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	176	Pro-rich.|Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGGCTGGAGCGAGGGCTGCCC	0.721													G|||	205	0.0409345	0.0023	0.1225	5008	,	,		12349	0.0625		0.0447	False		,,,				2504	0.0092				p.S193X		.											.	NT5C1B-47	0			c.C578A						.	G	stop/SER,stop/SER,stop/SER,stop/SER,stop/SER,stop/SER,stop/SER	28,4122		1,26,2048	10	17	15		527,476,578,533,353,527,347	3.3	0.3	2	dbSNP_129	15	368,7750		13,342,3704	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	14,368,5752	TT,TG,GG		4.5331,0.6747,3.2279	,,,,,,	176/611,159/594,193/628,178/613,118/651,176/603,116/551	18766156	396,11872	2075	4059	6134	SO:0001587	stop_gained	93034	exon5			TGGAGCGAGGGCT	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.527C>A	2.37:g.18766156G>T	ENSP00000352904:p.Ser176*	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	13	NM_001199087	0	0	0	0	0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Nonsense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	111	0.050824175824175824	4	0.008130081300813009	30	0.08287292817679558	38	0.06643356643356643	39	0.051451187335092345	G	18.93	3.728402	0.69074	0.006747	0.045331	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	.	.	.	4.15	3.26	0.37387	.	3.553780	0.01074	N	0.004867	.	.	.	.	.	.	0.09310	P	0.9999999999999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3183	6.8928	0.24238	0.1236:0.0:0.8764:0.0	.	.	.	.	X	176;118;116;176;193	.	ENSP00000305979:S116X	S	-	2	0	NT5C1B-RDH14;NT5C1B	18629637	0.438000	0.25602	0.345000	0.25642	0.048000	0.14542	2.099000	0.41767	2.246000	0.74042	0.563000	0.77884	TCG	G|0.950;T|0.050		0.721	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18766156	G	T	18766156	4	4	40	1	0	0	0	0	0	1	0	0	10725	1059	37	2	1329	2	NT5C1B	2	18766156	Nonsense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	11760787	18766156	224433217	8	9038											
FAM179A	165186	bcgsc.ca	37	chr2	29226498	29226498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcccttcccagcccGttacctccaggccagggagt	10	18	0	0	rs12613325	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:29226498G>A	ENST00000379558.4	+	6	1131	c.780G>A	c.(778-780)ccG>ccA	p.P260P	FAM179A_ENST00000403861.2_Silent_p.P260P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	260										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						TTCCCAGCCCGTTACCTCCAG	0.642													A|||	2971	0.593251	0.3056	0.7089	5008	,	,		18152	0.6677		0.7584	False		,,,				2504	0.6534				p.P260P		.											.	FAM179A-26	0			c.G780A						.	A		1513,2439		294,925,757	28	31	30		780	2	0	2	dbSNP_120	30	6585,1697		2629,1327,185	no	coding-synonymous	FAM179A	NM_199280.2		2923,2252,942	AA,AG,GG		20.4902,38.2844,33.8074		260/1020	29226498	8098,4136	1976	4141	6117	SO:0001819	synonymous_variant	165186	exon6			CAGCCCGTTACCT	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.780G>A	2.37:g.29226498G>A		Somatic	243	2		WXS	Illumina GAIIx	Phase_I	255	9	NM_199280	0	0	0	0	0	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																			G|0.369;A|0.631		0.642	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		A	29226498	G	A	29226498	2	1	40	1	0	0	0	0	0	0	0	1	5524	1132	40	1		1	FAM179A	2	29226498	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	10460342	29226498	213972875	9	9039											
PAIP2B	400961	bcgsc.ca	37	chr2	71417065	71417065	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaggcaggtctcgtgaGggaataaaccagtcttggtc	14	9	2	2	rs357777	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:71417065G>T	ENST00000244221.8	-	3	391	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	75					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						GGTCTCGTGAGGGAATAAACC	0.493													T|||	4796	0.957668	0.9622	0.9438	5008	,	,		19061	0.997		0.9076	False		,,,				2504	0.9724				p.P75P		.											.	PAIP2B-46	0			c.C225A						.	T		3738,216		1767,204,6	64	62	62		225	-1.2	0.9	2	dbSNP_79	62	7617,721		3480,657,32	no	coding-synonymous	PAIP2B	NM_020459.1		5247,861,38	TT,TG,GG		8.6472,5.4628,7.6228		75/124	71417065	11355,937	1977	4169	6146	SO:0001819	synonymous_variant	400961	exon3			TCGTGAGGGAATA		CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.225C>A	2.37:g.71417065G>T		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	115	6	NM_020459	0	0	5	5	0		Silent	SNP	ENST00000244221.8	37	CCDS46322.1																																																																																			G|0.052;T|0.948		0.493	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330547.2	XM_376062		T	71417065	G	T	71417065	2	4	40	1	0	0	0	0	0	0	0	1	11437	987	35	3		3	PAIP2B	2	71417065	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	42190567	71417065	171782308	10	9040											
EPB41L5	57669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	120834600	120834601	+	Frame_Shift_Del	DEL	TT	TT	-													gtcctgaacttgtctcagagTtcagattcgtgcctattcag							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:120834600_120834601delTT	ENST00000263713.5	+	8	773_774	c.559_560delTT	c.(559-561)ttcfs	p.F187fs	EPB41L5_ENST00000452780.1_Frame_Shift_Del_p.F187fs|EPB41L5_ENST00000443124.1_Frame_Shift_Del_p.F187fs|EPB41L5_ENST00000331393.4_Frame_Shift_Del_p.F187fs|EPB41L5_ENST00000443902.2_Frame_Shift_Del_p.F187fs	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	187	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGTCTCAGAGTTCAGATTCGTG	0.371																																					p.187_187del		.											.	EPB41L5-91	0			c.559_560del						.																																			SO:0001589	frameshift_variant	57669	exon8			TCAGAGTTCAGAT	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.559_560delTT	2.37:g.120834600_120834601delTT	ENSP00000263713:p.Phe187fs	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	58	56	NM_020909	0	0	0	0	0	Q7Z5S1|Q8IZ12|Q9H975	Frame_Shift_Del	DEL	ENST00000263713.5	37	CCDS2130.1																																																																																			.		0.371	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		-	120834601	TT	-	120834600	7	5	40	1	0	1	0	1	0	0	0	0	5173	1725	60	0	585	0	EPB41L5	2	120834600	Frame_Shift_Del	DEL	TT	TCGA-OR-A5KZ-01A-11D-A29I-10	49417535	120834600	122364773	11	9041											
FAM123C	205147	bcgsc.ca	37	chr2	131520598	131520598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgaatcgctcagtgcGtcagcagcagcgtgccctcc	12	14	2	1	rs200015684		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:131520598G>A	ENST00000423981.1	+	2	1063	c.953G>A	c.(952-954)cGt>cAt	p.R318H	AMER3_ENST00000321420.4_Missense_Mutation_p.R318H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	318					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CGCTCAGTGCGTCAGCAGCAG	0.662													G|||	1	0.000199681	0	0	5008	,	,		17745	0.001		0	False		,,,				2504	0				p.R318H		.											.	.	0			c.G953A						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36	42	40		953,953,953,953	1	0.2	2		40	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	29,29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	318/862,318/862,318/862,318/862	131520598	1,13003	2203	4299	6502	SO:0001583	missense	205147	exon2			CAGTGCGTCAGCA	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.953G>A	2.37:g.131520598G>A	ENSP00000392700:p.Arg318His	Somatic	121	4		WXS	Illumina GAIIx	Phase_I	172	157	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.40	2.523111	0.44866	0.0	1.16E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17854	2.25;2.25	4.97	0.997	0.19851	.	0.614690	0.14376	N	0.323482	T	0.23410	0.0566	L	0.47716	1.5	0.24021	N	0.99615	D	0.58970	0.984	P	0.58077	0.832	T	0.09037	-1.0693	10	0.56958	D	0.05	.	4.4413	0.11575	0.3623:0.1586:0.4791:0.0	.	318	Q8N944	F123C_HUMAN	H	318	ENSP00000314914:R318H;ENSP00000392700:R318H	ENSP00000314914:R318H	R	+	2	0	FAM123C	131237068	0.001000	0.12720	0.236000	0.24074	0.431000	0.31685	-0.382000	0.07408	-0.025000	0.13918	0.561000	0.74099	CGT	G|0.999;A|0.000		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131520598	G	A	131520598	3	1	40	1	0	0	0	0	1	0	0	0	5443	1145	40	1	955	1	FAM123C	2	131520598	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	10685998	131520598	111678775	12	9042											
GALNT5	11227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	158115239	158115239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactagcagctgaaagggaCttgaatgtgaccatcagtct	10	8	2	3			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:158115239C>G	ENST00000259056.4	+	1	1130	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	215					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						CTGAAAGGGACTTGAATGTGA	0.493																																					p.D215E		.											.	GALNT5-290	0			c.C645G						.						52	54	53					2																	158115239		2203	4300	6503	SO:0001583	missense	11227	exon1			AAGGGACTTGAAT	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.645C>G	2.37:g.158115239C>G	ENSP00000259056:p.Asp215Glu	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	87	40	NM_014568	0	0	0	0	0	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198846	0.38806	.	.	ENSG00000136542	ENST00000259056	T	0.56776	0.44	5.66	3.85	0.44370	.	3.265900	0.00695	N	0.000743	T	0.39627	0.1085	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.19946	0.027	T	0.31447	-0.9943	10	0.62326	D	0.03	.	5.6404	0.17561	0.0:0.666:0.1633:0.1707	.	215	Q7Z7M9	GALT5_HUMAN	E	215	ENSP00000259056:D215E	ENSP00000259056:D215E	D	+	3	2	GALNT5	157823485	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.771000	0.04699	1.534000	0.49203	-0.136000	0.14681	GAC	.		0.493	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		G	158115239	C	G	158115239	3	3	40	1	0	0	0	0	1	0	0	0	6241	564	20	3	647	3	GALNT5	2	158115239	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	26594641	158115239	85084134	13	9043											
C2orf62	375307	bcgsc.ca	37	chr2	219221846	219221846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaggaccaccagccctcGggtccggagtgtctgccact	12	15	1	0	rs4324314	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:219221846G>A	ENST00000289388.3	+	2	83	c.54G>A	c.(52-54)tcG>tcA	p.S18S	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		18					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCCCTCGGGTCCGGAGT	0.637													G|||	594	0.11861	0.0408	0.2421	5008	,	,		15900	0.1032		0.2117	False		,,,				2504	0.0562				p.S18S		.											.	C2orf62-68	0			c.G54A						.	G		316,4090	167.6+/-198.6	9,298,1896	55	55	55		54	-3.9	0	2	dbSNP_111	55	1929,6671	338.5+/-322.8	219,1491,2590	no	coding-synonymous	C2orf62	NM_198559.1		228,1789,4486	AA,AG,GG		22.4302,7.172,17.2613		18/388	219221846	2245,10761	2203	4300	6503	SO:0001819	synonymous_variant	375307	exon2			GCCCTCGGGTCCG																												ENST00000289388.3:c.54G>A	2.37:g.219221846G>A		Somatic	95	1		WXS	Illumina GAIIx	Phase_I	113	6	NM_198559	0	0	0	0	0		Silent	SNP	ENST00000289388.3	37	CCDS2414.1																																																																																			G|0.844;A|0.156		0.637	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			A	219221846	G	A	219221846	2	1	40	1	0	0	0	0	0	0	0	1	2188	1103	39	1		1	C2orf62	2	219221846	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	61106607	219221846	23977527	14	9044											
ALPPL2	251	hgsc.bcm.edu	37	chr2	233274475	233274475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgcgacctggcgcccCgcgccggcaccaccgacgcc	12	23	0	0	rs56080708	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr2:233274475C>A	ENST00000295453.3	+	11	1544	c.1492C>A	c.(1492-1494)Cgc>Agc	p.R498S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	498				R -> P (in Ref. 1; AAA98616 and 4; CAA39425). {ECO:0000305}.|R -> S (in Ref. 3; CAA37374). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCTGGCGCCCCGCGCCGGCAC	0.731													c|||	477	0.0952476	0.0514	0.062	5008	,	,		10169	0.2133		0.0785	False		,,,				2504	0.0736				p.R498S		.											.	ALPPL2-91	0			c.C1492A						.	C	SER/ARG	328,4022		17,294,1864	12	16	15		1492	1.2	0	2	dbSNP_129	15	716,7764		55,606,3579	no	missense	ALPPL2	NM_031313.2	110	72,900,5443	AA,AC,CC		8.4434,7.5402,8.1372	benign	498/533	233274475	1044,11786	2175	4240	6415	SO:0001583	missense	251	exon11			GCGCCCCGCGCCG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1492C>A	2.37:g.233274475C>A	ENSP00000295453:p.Arg498Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	231	0.10576923076923077	28	0.056910569105691054	21	0.058011049723756904	120	0.2097902097902098	62	0.08179419525065963	c	0.762	-0.768825	0.02974	0.075402	0.084434	ENSG00000163286	ENST00000295453	D	0.95412	-3.7	2.17	1.24	0.21308	Alkaline-phosphatase-like, core domain (1);	0.504996	0.18426	N	0.141584	T	0.00271	0.0008	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.42327	-0.9458	9	0.06236	T	0.91	.	4.2075	0.10495	0.3616:0.5075:0.0:0.1308	rs56080708;rs61730276	498	P10696	PPBN_HUMAN	S	498	ENSP00000295453:R498S	ENSP00000295453:R498S	R	+	1	0	ALPPL2	232982719	0.000000	0.05858	0.020000	0.16555	0.076000	0.17211	-0.511000	0.06321	0.233000	0.21120	0.205000	0.17691	CGC	C|0.901;A|0.099		0.731	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		A	233274475	C	A	233274475	3	1	40	1	0	0	0	0	1	0	0	0	549	652	23	2	1534	2	ALPPL2	2	233274475	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	14052629	233274475	9924898	15	9045											
CAND2	23066	bcgsc.ca	37	chr3	12856856	12856856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgctgcggcaaacacAgcccccgaagggatggctgg	15	13	0	0	rs2305398	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:12856856A>G	ENST00000456430.2	+	8	1264	c.1223A>G	c.(1222-1224)cAg>cGg	p.Q408R	CAND2_ENST00000295989.5_Missense_Mutation_p.Q315R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	408			Q -> R (in dbSNP:rs2305398). {ECO:0000269|PubMed:9734811}.		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGCAAACACAGCCCCCGAAG	0.617													G|||	2887	0.576478	0.972	0.4986	5008	,	,		20497	0.2907		0.6551	False		,,,				2504	0.3108				p.Q408R	GBM(43;676 868 1633 6395 37496)	.											.	CAND2-72	0			c.A1223G						.	G	ARG/GLN,ARG/GLN	3844,376		1752,340,18	46	54	51		1223,944	3.8	1	3	dbSNP_100	51	5225,3213		1621,1983,615	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	43,43	3373,2323,633	GG,GA,AA		38.0777,8.91,28.3536	benign,benign	408/1237,315/1120	12856856	9069,3589	2110	4219	6329	SO:0001583	missense	23066	exon8			AAACACAGCCCCC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1223A>G	3.37:g.12856856A>G	ENSP00000387641:p.Gln408Arg	Somatic	673	8		WXS	Illumina GAIIx	Phase_I	717	17	NM_001162499	0	0	0	0	0	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	1283	0.5874542124542125	469	0.9532520325203252	180	0.4972375690607735	150	0.26223776223776224	484	0.6385224274406333	G	0.066	-1.213618	0.01555	0.9109	0.619223	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64991	-0.13;-0.13	4.86	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.296572	0.26016	N	0.026849	T	0.00012	0.0000	N	0.00399	-1.545	0.09310	P	0.999996978	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36504	-0.9745	9	0.07482	T	0.82	-22.8675	7.173	0.25728	0.2702:0.0:0.7298:0.0	rs2305398;rs17824975;rs59611646;rs2305398	408;315	O75155;O75155-2	CAND2_HUMAN;.	R	315;408	ENSP00000295989:Q315R;ENSP00000387641:Q408R	ENSP00000295989:Q315R	Q	+	2	0	CAND2	12831856	0.994000	0.37717	0.955000	0.39395	0.098000	0.18820	0.601000	0.24119	1.046000	0.40249	-0.215000	0.12644	CAG	G|0.597;N|0.001		0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		G	12856856	A	G	12856856	3	3	40	1	0	0	0	0	1	0	0	0	2623	188	7	4	1253	4	CAND2	3	12856856	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10		12856856	185165574	16	9046											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	15	13	2	2	rs200900272		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																					p.P349L		.											.	MST1-278	5	Substitution - Missense(5)	endometrium(3)|skin(2)	c.C1046T						.						12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485	exon9			CCGTCGGGGTTCC	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	116	5	NM_020998	0	0	7	7	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC	.		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49723596	G	A	49723596	1	1	40	0	1	0	0	0	0	0	0	0	9928	1232	43	3		3	MST1	3	49723596	IGR	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	36866740	49723596	148298834	17	9047											
RBM6	10180	bcgsc.ca	37	chr3	50097113	50097113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaagatcttacagaAccttgatccgccatttagca	9	9	1	4	rs34707170	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:50097113A>G	ENST00000266022.4	+	11	2421	c.2162A>G	c.(2161-2163)aAc>aGc	p.N721S	RBM6_ENST00000442092.1_Missense_Mutation_p.N199S|RBM6_ENST00000443081.1_Missense_Mutation_p.N589S|RBM6_ENST00000422955.1_Missense_Mutation_p.N199S|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.N63S	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	721			N -> T (in dbSNP:rs34707170).		RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATCTTACAGAACCTTGATCCG	0.468													A|||	17	0.00339457	0	0.0216	5008	,	,		17692	0		0.001	False		,,,				2504	0.001				p.N721S		.											.	RBM6-280	0			c.A2162G						.	A	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	124	119	120		596,2162	5.6	1	3	dbSNP_126	120	13,8587	10.5+/-38.8	0,13,4287	yes	missense,missense	RBM6	NM_001167582.1,NM_005777.2	46,46	0,14,6489	GG,GA,AA		0.1512,0.0227,0.1076	probably-damaging,probably-damaging	199/602,721/1124	50097113	14,12992	2203	4300	6503	SO:0001583	missense	10180	exon11			TACAGAACCTTGA	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2162A>G	3.37:g.50097113A>G	ENSP00000266022:p.Asn721Ser	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	174	6	NM_005777	0	0	18	18	0	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	A	10.62	1.400290	0.25291	2.27E-4	0.001512	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.41758	1.19;1.19;1.19;0.99;1.19	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);	0.423695	0.25481	N	0.030379	T	0.25195	0.0612	N	0.19112	0.55	0.26786	N	0.96951	B;P	0.38617	0.27;0.64	B;B	0.40602	0.136;0.334	T	0.13229	-1.0517	9	.	.	.	-7.8717	15.7691	0.78149	1.0:0.0:0.0:0.0	.	589;721	E9PGM9;P78332	.;RBM6_HUMAN	S	199;721;589;63;199	ENSP00000393530:N199S;ENSP00000266022:N721S;ENSP00000396466:N589S;ENSP00000443165:N63S;ENSP00000392939:N199S	.	N	+	2	0	RBM6	50072117	0.986000	0.35501	1.000000	0.80357	0.832000	0.47134	2.642000	0.46596	2.126000	0.65437	0.529000	0.55759	AAC	A|0.998;C|0.000;G|0.001		0.468	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		G	50097113	A	G	50097113	3	3	40	1	0	0	0	0	1	0	0	0	13189	43	2	4	2200	4	RBM6	3	50097113	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	373517	50097113	147925317	18	9048											
FAM116A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	57616477	57616477	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatcgccttttattctagaGgttagctgaggtcctgtttt	9	8	1	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:57616477G>C	ENST00000311128.5	-	17	1552	c.1482C>G	c.(1480-1482)acC>acG	p.T494T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	494					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TTATTCTAGAGGTTAGCTGAG	0.353																																					p.T494T		.											.	.	0			c.C1482G						.						92	90	91					3																	57616477		2203	4300	6503	SO:0001819	synonymous_variant	201627	exon17			TCTAGAGGTTAGC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1482C>G	3.37:g.57616477G>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	36	21	NM_152678	0	0	4	6	2	Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939581	0.18281	.	.	ENSG00000174839	ENST00000471531	.	.	.	5.94	-1.89	0.07689	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	-26.25	2.0351	0.03538	0.2418:0.3084:0.3319:0.118	.	.	.	.	V	66	.	.	L	-	1	0	FAM116A	57591517	0.618000	0.27051	0.945000	0.38365	0.997000	0.91878	-0.328000	0.07945	-0.742000	0.04790	0.557000	0.71058	CTC	.		0.353	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		C	57616477	G	C	57616477	2	2	40	1	0	0	0	0	0	0	0	1	5426	987	35	3		3	FAM116A	3	57616477	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	7519364	57616477	140405953	19	9049											
CNTN3	5067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	74385793	74385793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctattttgagtcctccatCgtttaacaaagaaattctaa	6	8	1	2	rs187262258		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:74385793C>T	ENST00000263665.6	-	11	1408	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	461	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGTCCTCCATCGTTTAACAAA	0.318													C|||	1	0.000199681	0	0	5008	,	,		16472	0.001		0	False		,,,				2504	0				p.D461N		.											.	CNTN3-137	0			c.G1381A						.						82	73	76					3																	74385793		2203	4299	6502	SO:0001583	missense	5067	exon11			CTCCATCGTTTAA	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1381G>A	3.37:g.74385793C>T	ENSP00000263665:p.Asp461Asn	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	78	69	NM_020872	0	0	0	0	0	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.91	1.484010	0.26598	.	.	ENSG00000113805	ENST00000263665	T	0.28454	1.61	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181162	0.48767	D	0.000173	T	0.17619	0.0423	N	0.10916	0.065	0.42964	D	0.994414	B	0.06786	0.001	B	0.13407	0.009	T	0.07731	-1.0757	10	0.07813	T	0.8	.	18.2607	0.90034	0.0:1.0:0.0:0.0	.	461	Q9P232	CNTN3_HUMAN	N	461	ENSP00000263665:D461N	ENSP00000263665:D461N	D	-	1	0	CNTN3	74468483	0.989000	0.36119	0.578000	0.28575	0.347000	0.29111	2.701000	0.47094	2.382000	0.81193	0.557000	0.71058	GAT	C|0.999;T|0.000		0.318	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		T	74385793	C	T	74385793	3	4	40	1	0	0	0	0	1	0	0	0	3649	884	31	1	1753	1	CNTN3	3	74385793	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	16769316	74385793	123636637	20	9050											
VGLL3	389136	broad.mit.edu;bcgsc.ca	37	chr3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcttgctgaataccGctaacttcttctgggatgga	9	11	3	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:87027942G>A	ENST00000398399.2	-	2	500	c.137C>T	c.(136-138)gCg>gTg	p.A46V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428																																					p.A46V		.											.	VGLL3-90	0			c.C137T						.						57	54	55					3																	87027942		1942	4165	6107	SO:0001583	missense	389136	exon2			AATACCGCTAACT	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.137C>T	3.37:g.87027942G>A	ENSP00000381436:p.Ala46Val	Somatic	50	2		WXS	Illumina GAIIx	Phase_I	38	32	NM_016206	0	0	0	0	0		Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471695	0.43942	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.55234	0.57;0.53	5.14	5.14	0.70334	.	0.353082	0.30193	N	0.010196	T	0.35653	0.0939	L	0.32530	0.975	0.34741	D	0.730782	P	0.49961	0.93	B	0.30943	0.122	T	0.58521	-0.7622	10	0.66056	D	0.02	-7.3039	12.9789	0.58552	0.0777:0.0:0.9223:0.0	.	46	A8MV65	VGLL3_HUMAN	V	46	ENSP00000381436:A46V;ENSP00000373199:A46V	ENSP00000373199:A46V	A	-	2	0	VGLL3	87110632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.733000	0.38156	2.391000	0.81399	0.655000	0.94253	GCG	.		0.428	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		A	87027942	G	A	87027942	3	1	40	1	0	0	0	0	1	0	0	0	17209	1087	38	1	855	1	VGLL3	3	87027942	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	12642149	87027942	110994488	21	9051											
ALG1L	200810	hgsc.bcm.edu	37	chr3	125648356	125648356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcgactcccgcaggtTcttccaaaactggtttagct	9	13	1	0	rs3828357	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:125648356T>C	ENST00000340333.3	-	6	566	c.403A>G	c.(403-405)Aac>Gac	p.N135D	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	135			N -> D (in dbSNP:rs3828357). {ECO:0000269|PubMed:15489334}.				transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TCCCGCAGGTTCTTCCAAAAC	0.507													.|||	1388	0.277157	0.2262	0.2738	5008	,	,		18320	0.245		0.3738	False		,,,				2504	0.2822				p.N155D		.											.	ALG1L-90	0			c.A463G						.	T	ASP/ASN,ASP/ASN	737,2003		84,569,717	41	52	48		403,463	2.3	0.4	3	dbSNP_107	48	1670,2956		300,1070,943	no	missense,missense	ALG1L	NM_001015050.2,NM_001195223.1	23,23	384,1639,1660	CC,CT,TT		36.1003,26.8978,32.6772	possibly-damaging,possibly-damaging	135/188,155/208	125648356	2407,4959	1370	2313	3683	SO:0001583	missense	200810	exon7			GCAGGTTCTTCCA	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.403A>G	3.37:g.125648356T>C	ENSP00000340009:p.Asn135Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001195223	0	0	0	5	5	D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	CCDS33840.1	643	0.2944139194139194	118	0.23983739837398374	97	0.26795580110497236	151	0.263986013986014	277	0.3654353562005277	.	12.49	1.952222	0.34471	0.268978	0.361003	ENSG00000189366	ENST00000340333	T	0.70399	-0.48	2.3	2.3	0.28687	.	0.292589	0.40908	D	0.000982	T	0.00012	0.0000	L	0.33339	1.005	0.19775	P	0.9999521818	P	0.37423	0.594	B	0.33454	0.164	T	0.30387	-0.9980	9	0.37606	T	0.19	-8.7393	8.1541	0.31158	0.0:0.0:0.0:1.0	rs3828357;rs4082673;rs16834984;rs3828357	135	Q6GMV1	ALG1L_HUMAN	D	135	ENSP00000340009:N135D	ENSP00000340009:N135D	N	-	1	0	ALG1L	127131046	1.000000	0.71417	0.429000	0.26710	0.033000	0.12548	4.720000	0.61944	1.057000	0.40506	0.155000	0.16302	AAC	T|0.677;C|0.323		0.507	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		C	125648356	T	C	125648356	3	2	40	1	0	0	0	0	1	0	0	0	517	1783	62	4	164	4	ALG1L	3	125648356	Missense_Mutation	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	38620414	125648356	72374074	22	9052											
IGSF10	285313	broad.mit.edu	37	chr3	151155638	151155638	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttgtatacagaccattGattaatggaggtttagagac	10	5	0	3			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr3:151155638G>T	ENST00000282466.3	-	6	6710	c.6711C>A	c.(6709-6711)atC>atA	p.I2237I	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	2237	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGACCATTGATTAATGGAG	0.438																																					p.I2237I		.											.	IGSF10-102	0			c.C6711A						.						111	100	104					3																	151155638		2203	4300	6503	SO:0001819	synonymous_variant	285313	exon6			ACCATTGATTAAT	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.6711C>A	3.37:g.151155638G>T		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	83	3	NM_178822	0	0	0	0	0	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			.		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151155638	G	T	151155638	2	4	40	1	0	0	0	0	0	0	0	1	7624	1280	45	3		3	IGSF10	3	151155638	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	25507282	151155638	46866792	23	9053											
ZNF732	654254	hgsc.bcm.edu	37	chr4	289888	289888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggcagggtccagGcatttccactcttctggaga	12	11	3	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr4:289888G>A	ENST00000419098.1	-	2	70	c.60C>T	c.(58-60)tgC>tgT	p.C20C		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CAGGGTCCAGGCATTTCCACT	0.403																																					p.C19C		.											.	ZNF732-22	0			c.C57T						.						35	33	34					4																	289888		692	1590	2282	SO:0001819	synonymous_variant	654254	exon1			GTCCAGGCATTTC	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.60C>T	4.37:g.289888G>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	110	6	NM_001137608	0	0	25	25	0		Silent	SNP	ENST00000419098.1	37	CCDS46990.1																																																																																			.		0.403	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		A	289888	G	A	289888	2	1	40	1	0	0	0	0	0	0	0	1	18171	1195	42	3		3	ZNF732	4	289888	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		289888	190864388	24	9054											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	59	13	NM_175918	0	0	1	3	2	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	40	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	1098867	1388755	189765521	25	9055			1	42		3	3	113	N	C_A	5.608798e-08
CRIPAK	285464	ucsc.edu	37	chr4	1388850	1388850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccaaCgtggagtgcccgcctgatca	11	16	2	1	rs78729943	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr4:1388850C>T	ENST00000324803.4	+	1	3511	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	184					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCAACGTGGAGTGCC	0.667													N|||	112	0.0223642	0.0234	0.0288	5008	,	,		13476	0.001		0.0378	False		,,,				2504	0.0225				p.T184M		.											.	CRIPAK-90	0			c.C551T						.						219	152	176					4																	1388850		2180	3938	6118	SO:0001583	missense	285464	exon1			TGCCAACGTGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.551C>T	4.37:g.1388850C>T	ENSP00000323978:p.Thr184Met	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	157	36	NM_175918	0	0	0	0	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	2.068	-0.413800	0.04799	.	.	ENSG00000179979	ENST00000324803	T	0.19532	2.14	1.41	-2.82	0.05787	Post-SET domain (1);	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.22277	-1.0221	9	0.29301	T	0.29	.	4.7529	0.13070	0.0:0.3841:0.1667:0.4492	.	184	Q8N1N5	CRPAK_HUMAN	M	184	ENSP00000323978:T184M	ENSP00000323978:T184M	T	+	2	0	CRIPAK	1378850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.507000	0.06352	-2.573000	0.00466	-2.139000	0.00339	ACG	C|0.500;T|0.500		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1388850	C	T	1388850	3	4	40	1	0	0	0	0	1	0	0	0	3884	536	19	1	553	1	CRIPAK	4	1388850	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	95	1388850	189765426	26	9056			1	42		3	3	113	N	C_A	5.608798e-08
CRIPAK	285464	hgsc.bcm.edu;ucsc.edu	37	chr4	1388867	1388867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgtggagtgcccgcctgAtcacacgtgcccatgtggag	13	13	1	1	rs76058011	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr4:1388867A>C	ENST00000324803.4	+	1	3528	c.568A>C	c.(568-570)Atc>Ctc	p.I190L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	190					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCGCCTGATCACACGTGC	0.662													N|||	145	0.0289537	0.0174	0.0447	5008	,	,		14453	0.0099		0.0586	False		,,,				2504	0.0225				p.I190L		.											.	CRIPAK-90	0			c.A568C						.						246	170	197					4																	1388867		2172	3827	5999	SO:0001583	missense	285464	exon1			CGCCTGATCACAC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.568A>C	4.37:g.1388867A>C	ENSP00000323978:p.Ile190Leu	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	145	30	NM_175918	0	0	1	12	11	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	4.910	0.169067	0.09339	.	.	ENSG00000179979	ENST00000324803	T	0.19394	2.15	1.25	-1.56	0.08532	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.10636	T	0.68	.	0.5937	0.00732	0.3976:0.2382:0.1983:0.1659	.	190	Q8N1N5	CRPAK_HUMAN	L	190	ENSP00000323978:I190L	ENSP00000323978:I190L	I	+	1	0	CRIPAK	1378867	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.558000	0.00923	-1.849000	0.01171	-2.030000	0.00424	ATC	A|0.994;C|0.006		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388867	A	C	1388867	3	2	40	1	0	0	0	0	1	0	0	0	3884	333	12	5	570	5	CRIPAK	4	1388867	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	17	1388867	189765409	27	9057			1	42		3	3	113	N	C_A	5.608798e-08
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	40	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	76429335	77818202	113336074	28	9058											
NKD2	85409	hgsc.bcm.edu	37	chr5	1033568	1033569	+	Frame_Shift_Ins	INS	-	-	CCGCGAGGGC													gacggagagagggcagcaaaINSccgcgagggcccgcgaggac							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr5:1033568_1033569insCCGCGAGGGC	ENST00000296849.5	+	5	513_514	c.284_285insCCGCGAGGGC	c.(283-288)aaccgcfs	p.-99fs	NKD2_ENST00000537972.1_Frame_Shift_Ins_p.-99fs|NKD2_ENST00000274150.4_Frame_Shift_Ins_p.-99fs	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)						exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGCAGCAAACCGCGAGGGCC	0.688																																					p.N95fs		.											.	NKD2-226	0			c.284_285insCCGCGAGGGC						.																																			SO:0001589	frameshift_variant	85409	exon5			CAGCAAACCGCGA	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.285_294dupCCGCGAGGGC	5.37:g.1033569_1033578dupCCGCGAGGGC	ENSP00000296849:p.Pro99fs	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	287	16	NM_001271082	0	0	0	0	0	Q96EK8|Q9BSN0	Frame_Shift_Ins	INS	ENST00000296849.5	37	CCDS3859.1																																																																																			.		0.688	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		CCGCGAGGGC	1033569	-	CCGCGAGGGC	1033568	7	5	40	1	0	1	1	0	0	0	0	0	10481	43	2	0	302	0	NKD2	5	1033568	Frame_Shift_Ins	INS	-	TCGA-OR-A5KZ-01A-11D-A29I-10		1033568	179881692	29	9059											
TRIO	7204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	14387852	14387852	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccacagagtaaaagtctCcagctagatatcattccagc	6	11	2	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr5:14387852C>T	ENST00000344204.4	+	23	3801	c.3777C>T	c.(3775-3777)ctC>ctT	p.L1259L	TRIO_ENST00000509967.2_Silent_p.L1210L|TRIO_ENST00000537187.1_Silent_p.L1259L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1259					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)	p.L1259L(1)		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)					GTAAAAGTCTCCAGCTAGATA	0.433																																					p.L1259L		.											.	TRIO-562	1	Substitution - coding silent(1)	prostate(1)	c.C3777T						.						67	71	69					5																	14387852		2203	4300	6503	SO:0001819	synonymous_variant	7204	exon23			AAGTCTCCAGCTA	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.3777C>T	5.37:g.14387852C>T		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	126	48	NM_007118	0	0	0	0	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			.		0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14387852	C	T	14387852	2	4	40	1	0	0	0	0	0	0	0	1	16600	842	30	3		3	TRIO	5	14387852	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	13354284	14387852	166527408	30	9060											
SNCAIP	9627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	121758644	121758644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaatcgctgatgtgtacaGtaagttccgcccagtgaagc	12	9	0	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr5:121758644G>T	ENST00000261368.8	+	4	474	c.212G>T	c.(211-213)aGt>aTt	p.S71I	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S71I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S118I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S118I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S118I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	71					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)		GATGTGTACAGTAAGTTCCGC	0.428																																					p.S71I		.											.	SNCAIP-92	0			c.G212T						.						64	65	65					5																	121758644		2203	4300	6503	SO:0001583	missense	9627	exon4			TGTACAGTAAGTT	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.212G>T	5.37:g.121758644G>T	ENSP00000261368:p.Ser71Ile	Somatic	255	0		WXS	Illumina GAIIx	Phase_I	259	117	NM_005460	0	0	0	0	0	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239690	0.79800	.	.	ENSG00000064692	ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	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	5.66	5.66	0.87406	.	0.040353	0.85682	D	0.000000	T	0.43322	0.1242	L	0.34521	1.04	0.80722	D	1	P;D;P;D	0.71674	0.811;0.998;0.874;0.993	P;D;P;P	0.68943	0.506;0.961;0.447;0.844	T	0.31052	-0.9957	10	0.87932	D	0	-18.1219	13.4387	0.61099	0.0808:0.0:0.9192:0.0	.	71;118;118;71	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	I	71;118;71;71;71;118;71;118;118	ENSP00000427090:S71I;ENSP00000426551:S118I;ENSP00000422610:S71I;ENSP00000422106:S71I;ENSP00000261368:S71I;ENSP00000368848:S118I;ENSP00000368851:S71I;ENSP00000261367:S118I;ENSP00000423199:S118I	ENSP00000261367:S118I	S	+	2	0	SNCAIP	121786543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.759000	0.74934	2.690000	0.91761	0.655000	0.94253	AGT	.		0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			T	121758644	G	T	121758644	3	4	40	1	0	0	0	0	1	0	0	0	14886	1029	36	3	222	3	SNCAIP	5	121758644	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	107370792	121758644	59156616	31	9061											
GNPDA1	10007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	141382735	141382735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acggtgcggggatgctgctgGaaggcagacacggtccacat	16	10	0	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr5:141382735G>C	ENST00000508177.1	-	5	1445	c.687C>G	c.(685-687)ttC>ttG	p.F229L	GNPDA1_ENST00000500692.2_Missense_Mutation_p.F229L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.F229L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.F195L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.F229L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.F229L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.F152L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	229					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)			GATGCTGCTGGAAGGCAGACA	0.537																																					p.F229L		.											.	GNPDA1-90	0			c.C687G						.						160	136	144					5																	141382735		2203	4300	6503	SO:0001583	missense	10007	exon6			CTGCTGGAAGGCA	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.687C>G	5.37:g.141382735G>C	ENSP00000423674:p.Phe229Leu	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	184	92	NM_005471	0	0	4	13	9	B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705200	0.15172	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000504139;ENST00000505689	T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.03;2.02;2.02	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	N	0.05050	-0.12	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.003;0.007	T	0.15578	-1.0432	10	0.02654	T	1	-21.7282	8.559	0.33498	0.2286:0.0:0.7714:0.0	.	195;229	E7EVU7;P46926	.;GNPI1_HUMAN	L	229;229;195;229;229;229;152;195;250	ENSP00000423494:F229L;ENSP00000311876:F229L;ENSP00000387718:F195L;ENSP00000424275:F229L;ENSP00000423674:F229L;ENSP00000423485:F229L;ENSP00000445143:F152L;ENSP00000424625:F195L;ENSP00000421524:F250L	ENSP00000311876:F229L	F	-	3	2	GNPDA1	141362919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.480000	0.53172	1.580000	0.49851	0.655000	0.94253	TTC	.		0.537	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		C	141382735	G	C	141382735	3	2	40	1	0	0	0	0	1	0	0	0	6568	1165	41	3	190	3	GNPDA1	5	141382735	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	19624091	141382735	39532525	32	9062											
HLA-B	3106	hgsc.bcm.edu	37	chr6	31324595	31324604	+	Frame_Shift_Del	DEL	CGGCTCCTCT	CGGCTCCTCT	-													tgctctatccacggcgcccgCggctcctctctcggactcgc					rs41541416|rs200186034|rs1050543|rs41540514|rs9266179|rs9266178|rs1050538|rs281864598|rs41545612|rs72558108|rs41562914|rs9281379	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	CGGCTCCTCT	CGGCTCCTCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr6:31324595_31324604delCGGCTCCTCT	ENST00000412585.2	-	2	232_241	c.204_213delAGAGGAGCCG	c.(202-213)agagaggagccgfs	p.REEP68fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	68	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*30(2)|p.E69fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACGGCGCCCGCGGCTCCTCTCTCGGACTCG	0.676									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.68_71del		.											.	HLA-B-90	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	large_intestine(3)	c.204_213del						.																																			SO:0001589	frameshift_variant	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CGCCCGCGGCTCC	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.204_213delAGAGGAGCCG	6.37:g.31324595_31324604delCGGCTCCTCT	ENSP00000399168:p.Arg68fs	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	97	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.676	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31324604	CGGCTCCTCT	-	31324595	7	5	40	1	0	1	0	1	0	0	0	0	7223	755	27	0	899	0	HLA-B	6	31324595	Frame_Shift_Del	DEL	CGGCTCCTCT	TCGA-OR-A5KZ-01A-11D-A29I-10		31324595	139790472	33	9063											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_002047	0	0	0	25	25	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	40	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		30634661	128504002	34	9064											
EGFR	1956	broad.mit.edu;bcgsc.ca	37	chr7	55214349	55214349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccctgccctgtgcaacGtggagagcatccagtggcgg	13	13	0	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr7:55214349G>A	ENST00000275493.2	+	4	652	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	EGFR_ENST00000420316.2_Missense_Mutation_p.V159M|EGFR_ENST00000454757.2_Missense_Mutation_p.V106M|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000342916.3_Missense_Mutation_p.V159M|EGFR_ENST00000344576.2_Missense_Mutation_p.V159M|EGFR_ENST00000442591.1_Missense_Mutation_p.V159M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	159			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTGTGCAACGTGGAGAGCAT	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.V159M		.	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-44910	0			c.G475A						.						115	96	102					7																	55214349		2203	4300	6503	SO:0001583	missense	1956	exon4	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	TGCAACGTGGAGA		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.475G>A	7.37:g.55214349G>A	ENSP00000275493:p.Val159Met	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	222	16	NM_005228	0	0	1	1	0	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011971	0.19277	.	.	ENSG00000146648	ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.6	-0.531	0.11894	EGF receptor, L domain (1);	0.445298	0.26272	N	0.025337	T	0.61311	0.2337	L	0.31578	0.945	0.27950	N	0.937188	B;P;B;B	0.39044	0.019;0.656;0.06;0.093	B;B;B;B	0.29176	0.011;0.099;0.042;0.021	T	0.58335	-0.7654	10	0.11794	T	0.64	.	5.8866	0.18884	0.5329:0.0:0.3322:0.1349	.	159;159;159;159	P00533;P00533-3;P00533-4;P00533-2	EGFR_HUMAN;.;.;.	M	159;29;159;159;159;159;106;106	ENSP00000342376:V159M;ENSP00000345973:V159M;ENSP00000413843:V159M;ENSP00000275493:V159M;ENSP00000410031:V159M;ENSP00000413354:V106M;ENSP00000395243:V106M	ENSP00000275493:V159M	V	+	1	0	EGFR	55181843	0.220000	0.23631	0.980000	0.43619	0.657000	0.38888	-0.395000	0.07287	-0.168000	0.10853	0.655000	0.94253	GTG	.		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55214349	G	A	55214349	3	1	40	1	0	0	0	0	1	0	0	0	4981	1145	40	1	489	1	EGFR	7	55214349	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	24579688	55214349	103924314	35	9065											
SGCE	8910	hgsc.bcm.edu	37	chr7	94227276	94227276	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgagccaagatcgcTccattgcactccagcctggg	11	14	0	2	rs10247562	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr7:94227276T>G	ENST00000265735.7	-	9	1364				SGCE_ENST00000415788.2_Intron|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000447873.1_Intron|SGCE_ENST00000428696.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.S432R	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon						cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ccaagatcgctccattgcact	0.483													G|||	3818	0.76238	0.9576	0.7032	5008	,	,		14879	0.7083		0.7147	False		,,,				2504	0.6452				p.S432R		.											.	SGCE-91	0			c.A1294C						.						1	1	1					7																	94227276		142	139	281	SO:0001627	intron_variant	8910	exon10			GATCGCTCCATTG	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1253+810A>C	7.37:g.94227276T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001099401	117	0	16	380	247	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	1627	0.74496336996337	436	0.8861788617886179	243	0.6712707182320442	416	0.7272727272727273	532	0.7018469656992085	G	0.003	-2.528823	0.00147	.	.	ENSG00000127990	ENST00000445866	T	0.38077	1.16	0.113	0.113	0.14631	.	.	.	.	.	T	0.00012	0.0000	N	0.00427	-1.505	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	7	0.48119	T	0.1	.	.	.	.	rs10247562;rs56677001	432	G5E9K6	.	R	432	ENSP00000398930:S432R	ENSP00000398930:S432R	S	-	1	0	SGCE	94065212	0.002000	0.14202	0.004000	0.12327	0.002000	0.02628	-0.857000	0.04286	-1.124000	0.02936	-1.117000	0.02048	AGC	T|0.255;G|0.745		0.483	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			G	94227276	T	G	94227276	1	3	40	0	1	0	0	0	0	0	0	0	14247	1551	54	5		5	SGCE	7	94227276	Intron	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	39012927	94227276	64911387	36	9066											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtggtccgcatgaagCgcagaggcgggcgcgggccg	20	12	0	2	rs6969990	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			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)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3	4	3		70	4.4	0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	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.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	15	12	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156742501	C	G	156742501	3	3	40	1	0	0	0	0	1	0	0	0	10569	768	27	2	72	2	NOM1	7	156742501	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	62515225	156742501	2396162	37	9067											
NKX3-1	4824	hgsc.bcm.edu	37	chr8	23540249	23540249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccggctccgggtcgcGctgtctctggctgctcgtgc	15	15	1	0	rs2228013	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr8:23540249G>A	ENST00000380871.4	-	1	191	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	NKX3-1_ENST00000523261.1_Intron	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	52			R -> C (in dbSNP:rs2228013). {ECO:0000269|PubMed:9377551}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCGGGTCGCGCTGTCTCTGG	0.756													G|||	111	0.0221645	8e-04	0.0519	5008	,	,		11150	0.001		0.0467	False		,,,				2504	0.0266				p.R52C		.											.	NKX3-1-90	0			c.C154T						.	G	CYS/ARG	33,3943		0,33,1955	8	9	9		154	2.4	0	8	dbSNP_98	9	337,7623		5,327,3648	no	missense	NKX3-1	NM_006167.3	180	5,360,5603	AA,AG,GG		4.2337,0.83,3.0999	possibly-damaging	52/235	23540249	370,11566	1988	3980	5968	SO:0001583	missense	4824	exon1			GGTCGCGCTGTCT		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.154C>T	8.37:g.23540249G>A	ENSP00000370253:p.Arg52Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_006167	0	0	1	1	0	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	49	0.022435897435897436	1	0.0020325203252032522	16	0.04419889502762431	0	0.0	32	0.04221635883905013	G	13.18	2.161019	0.38119	0.0083	0.042337	ENSG00000167034	ENST00000380871	D	0.91011	-2.77	4.28	2.43	0.29744	.	7739.210000	0.00166	N	0.000000	T	0.50820	0.1638	N	0.08118	0	0.18873	N	0.999983	D	0.53151	0.958	B	0.35182	0.197	T	0.70066	-0.4974	10	0.56958	D	0.05	.	4.8592	0.13575	0.1031:0.0:0.5205:0.3765	rs2228013	52	Q99801	NKX31_HUMAN	C	52	ENSP00000370253:R52C	ENSP00000370253:R52C	R	-	1	0	NKX3-1	23596194	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.180000	0.16860	0.410000	0.25675	0.484000	0.47621	CGC	G|0.977;A|0.023		0.756	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			A	23540249	G	A	23540249	3	1	40	1	0	0	0	0	1	0	0	0	10494	1087	38	1	558	1	NKX3-1	8	23540249	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		23540249	122823773	38	9068											
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	53044607	53044607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agctcttgtttgttcagtttCcaggagagggaggctccatt	12	8	2	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr8:53044607C>G	ENST00000276480.7	-	22	3260	c.2577G>C	c.(2575-2577)tgG>tgC	p.W859C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	859					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTTCAGTTTCCAGGAGAGGG	0.493																																					p.W859C		.											.	ST18-95	0			c.G2577C						.						151	133	139					8																	53044607		2203	4300	6503	SO:0001583	missense	9705	exon22			CAGTTTCCAGGAG	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2577G>C	8.37:g.53044607C>G	ENSP00000276480:p.Trp859Cys	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	330	170	NM_014682	0	0	0	0	0	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382219	0.82792	.	.	ENSG00000147488	ENST00000276480	T	0.51574	0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70252	-0.4923	10	0.72032	D	0.01	-8.9451	19.2617	0.93970	0.0:1.0:0.0:0.0	.	859	O60284	ST18_HUMAN	C	859	ENSP00000276480:W859C	ENSP00000276480:W859C	W	-	3	0	ST18	53207160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.602000	0.87976	0.591000	0.81541	TGG	.		0.493	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			G	53044607	C	G	53044607	3	3	40	1	0	0	0	0	1	0	0	0	15259	856	30	3	586	3	ST18	8	53044607	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	29504358	53044607	93319415	39	9069											
CRH	1392	hgsc.bcm.edu	37	chr8	67089425	67089425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcggctgccgctgccTccggcgaggagcgaggaggc	20	12	0	0	rs6159	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr8:67089425T>G	ENST00000276571.3	-	2	734	c.288A>C	c.(286-288)ggA>ggC	p.G96G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	96					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCCGCTGCCTCCGGCGAGGA	0.701											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1938	0.386981	0.7557	0.3646	5008	,	,		12753	0.3433		0.1392	False		,,,				2504	0.2045				p.G96G		.											.	CRH-90	0			c.A288C						.	G		1011,1897		182,647,625	2	3	3		288	-2.7	0	8	dbSNP_52	3	578,6556		47,484,3036	no	coding-synonymous	CRH	NM_000756.2		229,1131,3661	GG,GT,TT		8.102,34.7662,15.8235		96/197	67089425	1589,8453	1454	3567	5021	SO:0001819	synonymous_variant	1392	exon2			GCTGCCTCCGGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.288A>C	8.37:g.67089425T>G		Somatic	2	0	1096	WXS	Illumina GAIIx	Phase_I	27	5	NM_000756	0	0	0	0	0	B3KQS4	Silent	SNP	ENST00000276571.3	37	CCDS6188.1																																																																																			T|0.642;G|0.358		0.701	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		G	67089425	T	G	67089425	2	3	40	1	0	0	0	0	0	0	0	1	3876	1538	54	5		5	CRH	8	67089425	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	14044818	67089425	79274597	40	9070											
STAU2	27067	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	74464276	74464276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttgaatccttgctaaatattCcagttgttttgaaggttgta	8	5	0	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr8:74464276C>G	ENST00000521451.1	-	8	1217	c.841G>C	c.(841-843)Gaa>Caa	p.E281Q	STAU2_ENST00000523558.1_Missense_Mutation_p.E329Q|STAU2_ENST00000519961.1_Missense_Mutation_p.E501Q|STAU2_ENST00000355780.5_Missense_Mutation_p.E469Q|STAU2_ENST00000517542.1_Missense_Mutation_p.E463Q|STAU2_ENST00000521727.1_Missense_Mutation_p.E481Q|STAU2_ENST00000521210.1_Missense_Mutation_p.E397Q|STAU2_ENST00000522695.1_Missense_Mutation_p.E469Q|STAU2_ENST00000522509.1_Missense_Mutation_p.E469Q|STAU2_ENST00000524300.1_Missense_Mutation_p.E501Q			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	501					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCTAAATATTCCAGTTGTTTT	0.363																																					p.E501Q		.											.	STAU2-90	0			c.G1501C						.						60	64	63					8																	74464276		2203	4297	6500	SO:0001583	missense	27067	exon13			AATATTCCAGTTG	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.841G>C	8.37:g.74464276C>G	ENSP00000428476:p.Glu281Gln	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	257	48	NM_001164380	0	0	16	18	2	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37		.	.	.	.	.	.	.	.	.	.	C	17.76	3.467667	0.63625	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542	T;T;T;T;T;T;T;T;T;T;T	0.79653	0.39;0.39;0.39;-1.29;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.6	4.6	0.57074	.	0.048930	0.85682	D	0.000000	D	0.85191	0.5640	L	0.53249	1.67	0.80722	D	1	P;D;D;D;P;P;P;P	0.61080	0.759;0.957;0.989;0.957;0.844;0.759;0.849;0.729	B;P;P;P;P;B;P;B	0.58660	0.328;0.608;0.843;0.608;0.528;0.188;0.478;0.315	D	0.84204	0.0452	10	0.36615	T	0.2	-12.4942	17.9748	0.89123	0.0:1.0:0.0:0.0	.	481;397;329;397;469;501;469;501	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	Q	469;501;329;397;114;469;501;481;281;469;463	ENSP00000428456:E469Q;ENSP00000428756:E501Q;ENSP00000428741:E329Q;ENSP00000429173:E397Q;ENSP00000430511:E114Q;ENSP00000348026:E469Q;ENSP00000430907:E501Q;ENSP00000429973:E481Q;ENSP00000428476:E281Q;ENSP00000427977:E469Q;ENSP00000431111:E463Q	ENSP00000344030:E329Q	E	-	1	0	STAU2	74626830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.883000	0.75595	2.538000	0.85594	0.650000	0.86243	GAA	.		0.363	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		G	74464276	C	G	74464276	3	3	40	1	0	0	0	0	1	0	0	0	15320	864	30	3	347	3	STAU2	8	74464276	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	7374851	74464276	71899746	41	9071											
EPPK1	83481	broad.mit.edu;bcgsc.ca	37	chr8	144940435	144940435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgccgtgctcccggacgatGaggtccttctgcatggcctg	13	13	1	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr8:144940435G>A	ENST00000525985.1	-	2	7058	c.6987C>T	c.(6985-6987)ctC>ctT	p.L2329L				P58107	EPIPL_HUMAN	epiplakin 1	2329						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)			CCCGGACGATGAGGTCCTTCT	0.697																																					p.L2329L		.											.	EPPK1-25	0			c.C6987T						.						187	185	186					8																	144940435		2175	4255	6430	SO:0001819	synonymous_variant	83481	exon1			GACGATGAGGTCC	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.6987C>T	8.37:g.144940435G>A		Somatic	204	1		WXS	Illumina GAIIx	Phase_I	977	64	NM_031308	0	0	1	1	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940435	G	A	144940435	2	1	40	1	0	0	0	0	0	0	0	1	5206	1277	45	3		3	EPPK1	8	144940435	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	70476159	144940435	1423587	42	9072											
AKAP2	11217	bcgsc.ca	37	chr9	112898576	112898576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaatcacctctacccCacatcccatggaccatccct	4	19	2	0	rs151065500	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr9:112898576C>T	ENST00000259318.7	+	2	266	c.59C>T	c.(58-60)cCa>cTa	p.P20L	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251L|AKAP2_ENST00000555236.1_Missense_Mutation_p.P251L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P251L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	20										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACCTCTACCCCACATCCCATG	0.498													C|||	44	0.00878594	0.0023	0.0043	5008	,	,		20072	0		0.0129	False		,,,				2504	0.0256				p.P251L		.											.	PALM2-AKAP2-475	0			c.C752T						.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	25,4381	31.7+/-61.6	0,25,2178	186	171	176		326,59,326,752,752	4.4	0.1	9	dbSNP_134	176	82,8518	47.2+/-106.3	2,78,4220	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,98,98,98	2,103,6398	TT,TC,CC		0.9535,0.5674,0.8227	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	109/949,20/860,109/962,251/1104,251/1091	112898576	107,12899	2203	4300	6503	SO:0001583	missense	445815	exon8			CTACCCCACATCC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.59C>T	9.37:g.112898576C>T	ENSP00000259318:p.Pro20Leu	Somatic	152	2		WXS	Illumina GAIIx	Phase_I	209	7	NM_007203	0	0	1	1	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	12	0.005494505494505495	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	9	0.011873350923482849	C	13.48	2.249854	0.39797	0.005674	0.009535	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48836	2.14;2.14;2.14;2.14;1.39;0.8;0.81;1.49	6.17	4.36	0.52297	.	0.256481	0.31809	N	0.007037	T	0.28962	0.0719	L	0.33485	1.01	0.32786	N	0.501856	B;B;B;B;B;B;B;B	0.13145	0.0;0.004;0.007;0.004;0.002;0.003;0.001;0.004	B;B;B;B;B;B;B;B	0.12156	0.002;0.006;0.007;0.006;0.003;0.005;0.005;0.002	T	0.42716	-0.9435	10	0.72032	D	0.01	-4.1394	10.6145	0.45443	0.0:0.8539:0.0:0.1461	.	20;109;103;109;110;251;251;69	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	251;251;251;251;109;109;69;20	ENSP00000363654:P251L;ENSP00000305861:P251L;ENSP00000451476:P251L;ENSP00000421522:P251L;ENSP00000404782:P109L;ENSP00000363649:P109L;ENSP00000419268:P69L;ENSP00000259318:P20L	ENSP00000259318:P20L	P	+	2	0	PALM2-AKAP2;AKAP2	111938397	0.879000	0.30193	0.112000	0.21494	0.687000	0.40016	3.012000	0.49575	0.952000	0.37798	0.655000	0.94253	CCA	C|0.993;T|0.007		0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		T	112898576	C	T	112898576	3	4	40	1	0	0	0	0	1	0	0	0	451	594	21	3	332	3	AKAP2	9	112898576	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		112898576	28314855	43	9073											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113173641	113173641	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctgaggtgttcagtAcaaagccttccatgcattta	8	9	2	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr9:113173641A>T	ENST00000401783.2	-	37	6686	c.6350T>A	c.(6349-6351)gTa>gAa	p.V2117E	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2094E|SVEP1_ENST00000297826.5_Missense_Mutation_p.V43E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2117	Sushi 12. {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						GGTGTTCAGTACAAAGCCTTC	0.488																																					p.V2117E		.											.	SVEP1-75	0			c.T6350A						.						56	59	58					9																	113173641		1912	4134	6046	SO:0001583	missense	79987	exon37			TTCAGTACAAAGC	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.6350T>A	9.37:g.113173641A>T	ENSP00000384917:p.Val2117Glu	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	101	34	NM_153366	0	0	1	2	1	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707829	0.48412	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63913	-0.07;-0.07;-0.07	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.052369	0.85682	D	0.000000	T	0.74283	0.3696	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71331	-0.4625	10	0.02654	T	1	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	2117	Q4LDE5	SVEP1_HUMAN	E	2117;2094;43	ENSP00000384917:V2117E;ENSP00000363593:V2094E;ENSP00000297826:V43E	ENSP00000297826:V43E	V	-	2	0	SVEP1	112213462	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	7.105000	0.77031	2.296000	0.77279	0.482000	0.46254	GTA	.		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113173641	A	T	113173641	3	4	40	1	0	0	0	0	1	0	0	0	15467	391	14	5	4413	5	SVEP1	9	113173641	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	275065	113173641	28039790	44	9074											
ALAD	210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	116154411	116154411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctacctggccactcctGggaggctggtgataggctgt	13	12	1	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr9:116154411G>A	ENST00000409155.3	-	3	348	c.152C>T	c.(151-153)cCa>cTa	p.P51L	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Intron	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	51					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGCCACTCCTGGGAGGCTGGT	0.622																																					p.P51L		.											.	ALAD-90	0			c.C152T						.						46	44	44					9																	116154411		2203	4300	6503	SO:0001583	missense	210	exon3			ACTCCTGGGAGGC	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.152C>T	9.37:g.116154411G>A	ENSP00000386284:p.Pro51Leu	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	94	12	NM_000031	0	0	16	23	7	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013130	0.93346	.	.	ENSG00000148218	ENST00000409155;ENST00000448137	D;D	0.94687	-3.49;-3.49	5.7	5.7	0.88788	Aldolase-type TIM barrel (1);	0.051310	0.85682	D	0.000000	D	0.98629	0.9541	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99541	1.0963	10	0.87932	D	0	-5.6957	17.0031	0.86385	0.0:0.0:1.0:0.0	.	51;80	P13716;P13716-2	HEM2_HUMAN;.	L	51;60	ENSP00000386284:P51L;ENSP00000392748:P60L	ENSP00000386284:P51L	P	-	2	0	ALAD	115194232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.638000	0.91019	2.688000	0.91661	0.655000	0.94253	CCA	.		0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		A	116154411	G	A	116154411	3	1	40	1	0	0	0	0	1	0	0	0	483	1348	47	3	880	3	ALAD	9	116154411	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	2980770	116154411	25059020	45	9075											
ABCA2	20	ucsc.edu;bcgsc.ca	37	chr9	139918597	139918597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgccgcactcacctTccttcacggagatggtgggc	11	16	2	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr9:139918597T>C	ENST00000371605.3	-	2	305	c.158A>G	c.(157-159)gAa>gGa	p.E53G	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.E53G|ABCA2_ENST00000341511.6_Missense_Mutation_p.E53G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	53					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACTCACCTTCCTTCACGGA	0.647																																					p.E83G		.											.	ABCA2-90	0			c.A248G						.						28	33	31					9																	139918597		2055	4197	6252	SO:0001583	missense	20	exon2			TCACCTTCCTTCA	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.158A>G	9.37:g.139918597T>C	ENSP00000360666:p.Glu53Gly	Somatic	196	3		WXS	Illumina GAIIx	Phase_I	357	329	NM_212533	0	0	0	0	0	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	T	26.9	4.777706	0.90195	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.98437	-4.55;-4.93;-4.93	4.59	4.59	0.56863	.	4.222010	0.01850	U	0.035848	D	0.98289	0.9433	M	0.77616	2.38	0.41219	D	0.98649	B;P	0.46987	0.01;0.888	B;P	0.47102	0.003;0.537	D	0.92489	0.5999	10	0.49607	T	0.09	.	11.47	0.50264	0.0:0.0:0.0:1.0	.	53;83	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	G	53;53;83;53	ENSP00000265662:E53G;ENSP00000360666:E53G;ENSP00000344155:E53G	ENSP00000265662:E53G	E	-	2	0	ABCA2	139038418	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.728000	0.54991	1.713000	0.51359	0.459000	0.35465	GAA	.		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		C	139918597	T	C	139918597	3	2	40	1	0	0	0	0	1	0	0	0	32	1783	62	4	7345	4	ABCA2	9	139918597	Missense_Mutation	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	23764186	139918597	1294834	46	9076											
GPR158	57512	bcgsc.ca	37	chr10	25701341	25701341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcatctccttccaagCcctgtgtatgctgctcgact	7	15	2	0	rs2480345	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr10:25701341C>G	ENST00000376351.3	+	4	1633	c.1274C>G	c.(1273-1275)gCc>gGc	p.A425G		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	425			A -> G (in dbSNP:rs2480345). {ECO:0000269|Ref.1}.		protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCCTTCCAAGCCCTGTGTATG	0.507													C|||	2457	0.490615	0.4561	0.5029	5008	,	,		20107	0.1587		0.6948	False		,,,				2504	0.6605				p.A425G		.											.	GPR158-141	0			c.C1274G						.	C	GLY/ALA	2112,2294	575.0+/-383.9	505,1102,596	235	202	213		1274	4	1	10	dbSNP_100	213	6264,2336	703.6+/-405.4	2284,1696,320	yes	missense	GPR158	NM_020752.2	60	2789,2798,916	GG,GC,CC		27.1628,47.9346,35.599	benign	425/1216	25701341	8376,4630	2203	4300	6503	SO:0001583	missense	57512	exon4			TCCAAGCCCTGTG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1274C>G	10.37:g.25701341C>G	ENSP00000365529:p.Ala425Gly	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	1019	0.4665750915750916	218	0.44308943089430897	195	0.5386740331491713	78	0.13636363636363635	528	0.6965699208443272	C	13.99	2.401024	0.42613	0.479346	0.728372	ENSG00000151025	ENST00000376351	T	0.60040	0.22	6.16	4.01	0.46588	GPCR, family 3, C-terminal (1);	0.289069	0.29376	N	0.012330	T	0.00012	0.0000	N	0.10874	0.06	0.38124	P	0.062031999999999976	B	0.11235	0.004	B	0.16722	0.016	T	0.34428	-0.9829	9	0.27785	T	0.31	.	14.0138	0.64513	0.0:0.8586:0.0:0.1414	rs2480345;rs16925746;rs17556198;rs52825413;rs2480345	425	Q5T848	GP158_HUMAN	G	425	ENSP00000365529:A425G	ENSP00000365529:A425G	A	+	2	0	GPR158	25741347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.212000	0.51145	1.612000	0.50221	0.650000	0.86243	GCC	C|0.433;G|0.567		0.507	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25701341	C	G	25701341	3	3	40	1	0	0	0	0	1	0	0	0	6689	739	26	3	1288	3	GPR158	10	25701341	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		25701341	109833406	47	9077											
RASGEF1A	221002	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	43698838	43698838	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggggcataaagacccgggAgctcaggagaaaggtgaaga	17	6	1	4			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr10:43698838A>T	ENST00000395809.1	-	3	2735	c.229T>A	c.(229-231)Tcc>Acc	p.S77T	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.S85T|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.S77T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	77	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGACCCGGGAGCTCAGGAGA	0.657																																					p.S77T		.											.	RASGEF1A-227	0			c.T229A						.						20	17	18					10																	43698838		2179	4291	6470	SO:0001583	missense	221002	exon3			CCCGGGAGCTCAG	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.229T>A	10.37:g.43698838A>T	ENSP00000379154:p.Ser77Thr	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	285	35	NM_145313	0	0	0	0	0	Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165187	0.78339	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.31247	1.5;1.5;1.5	5.33	5.33	0.75918	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.083628	0.52532	D	0.000080	T	0.38719	0.1051	M	0.64997	1.995	0.43403	D	0.99553	B;B	0.30709	0.291;0.243	B;B	0.41917	0.37;0.253	T	0.21827	-1.0234	10	0.33141	T	0.24	.	11.3071	0.49342	0.8477:0.1523:0.0:0.0	.	77;85	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	85;77;77	ENSP00000363583:S85T;ENSP00000379155:S77T;ENSP00000379154:S77T	ENSP00000363583:S85T	S	-	1	0	RASGEF1A	43018844	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.719000	0.54926	2.017000	0.59298	0.402000	0.26972	TCC	.		0.657	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		T	43698838	A	T	43698838	3	4	40	1	0	0	0	0	1	0	0	0	13114	304	11	5	1260	5	RASGEF1A	10	43698838	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	17997497	43698838	91835909	48	9078											
MAML2	84441	broad.mit.edu	37	chr11	95825374	95825374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgctgctgctgTtgctgctgctgctgctgctg	14	11	0	0	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr11:95825374T>C	ENST00000524717.1	-	2	3105	c.1821A>G	c.(1819-1821)caA>caG	p.Q607Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q607Q		.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	MAML2-850	1	Substitution - coding silent(1)	endometrium(1)	c.A1821G						.						27	35	33					11																	95825374		2008	3974	5982	SO:0001819	synonymous_variant	84441	exon2			CTGCTGTTGCTGC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821A>G	11.37:g.95825374T>C		Somatic	134	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_032427	2	5	48	5076	5021	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|1.000;|0.000		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825374	T	C	95825374	2	2	40	1	0	0	0	0	0	0	0	1	9244	1722	60	4		4	MAML2	11	95825374	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10		95825374	39181142	49	9079											
ATN1	1822	hgsc.bcm.edu	37	chr12	7045924	7045924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcatcacgg	13	14	1	0	rs199988271		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr12:7045924G>T	ENST00000356654.4	+	5	1731	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q498H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	498	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.637																																					p.Q498H		.											.	ATN1-139	0			c.G1494T						.						43	53	49					12																	7045924		2201	4297	6498	SO:0001583	missense	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1494G>T	12.37:g.7045924G>T	ENSP00000349076:p.Gln498His	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	182	12	NM_001007026	0	0	134	134	0	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.273578	0.00257	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	1.44	-2.88	0.05682	.	.	.	.	.	T	0.24392	0.0591	N	0.22421	0.69	0.09310	N	1	P	0.40970	0.734	B	0.30401	0.115	T	0.19353	-1.0308	9	0.17832	T	0.49	.	3.3676	0.07208	0.2981:0.2446:0.4573:0.0	.	498	P54259	ATN1_HUMAN	H	498;498;498;83	ENSP00000349076:Q498H;ENSP00000379915:Q498H;ENSP00000441744:Q498H	ENSP00000229279:Q83H	Q	+	3	2	ATN1	6916185	0.175000	0.23083	0.269000	0.24586	0.334000	0.28698	-0.489000	0.06490	-0.760000	0.04677	0.109000	0.15622	CAG	G|0.999;A|0.001		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045924	G	T	7045924	3	4	40	1	0	0	0	0	1	0	0	0	1112	962	34	3	1508	3	ATN1	12	7045924	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		7045924	126805971	50	9080											
C1QL4	338761	hgsc.bcm.edu	37	chr12	49730135	49730135	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggaagcaggcgcgccgtcGggaccagggccacggggccc	18	15	0	0	rs146137821	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr12:49730135G>C	ENST00000334221.3	-	1	836	c.126C>G	c.(124-126)ccC>ccG	p.P42P		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	42						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCGCGCCGTCGGGACCAGGGC	0.756													G|||	454	0.090655	0.0991	0.0836	5008	,	,		11826	0.0248		0.1332	False		,,,				2504	0.1084				p.P42P		.											.	C1QL4-90	0			c.C126G						.	G		278,3274		16,246,1514	4	4	4		126	3.4	0.9	12	dbSNP_134	4	773,6267		42,689,2789	no	coding-synonymous	C1QL4	NM_001008223.1		58,935,4303	CC,CG,GG		10.9801,7.8266,9.9226		42/239	49730135	1051,9541	1776	3520	5296	SO:0001819	synonymous_variant	338761	exon1			GCCGTCGGGACCA		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.126C>G	12.37:g.49730135G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_001008223	0	0	0	0	0		Silent	SNP	ENST00000334221.3	37	CCDS31793.1																																																																																			G|0.904;C|0.096		0.756	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		C	49730135	G	C	49730135	2	2	40	1	0	0	0	0	0	0	0	1	1968	1103	39	2		2	C1QL4	12	49730135	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	42684211	49730135	84121760	51	9081											
HOXC9	3225	hgsc.bcm.edu	37	chr12	54394284	54394284	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagccgctgtccggcgccgtCtccttccccagcttcccggc	11	20	1	0	rs34079606	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr12:54394284C>T	ENST00000303450.4	+	1	382	c.312C>T	c.(310-312)gtC>gtT	p.V104V	HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.V104V|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	104					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCGGCGCCGTCTCCTTCCCCA	0.741													C|||	79	0.0157748	0	0.0058	5008	,	,		10961	0.0258		0.0219	False		,,,				2504	0.0276				p.V104V		.											.	HOXC9-155	0			c.C312T						.	C		16,4106		0,16,2045	7	9	8		312	2.1	1	12	dbSNP_126	8	147,8059		0,147,3956	no	coding-synonymous	HOXC9	NM_006897.1		0,163,6001	TT,TC,CC		1.7914,0.3882,1.3222		104/261	54394284	163,12165	2061	4103	6164	SO:0001819	synonymous_variant	3225	exon1			CGCCGTCTCCTTC		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.312C>T	12.37:g.54394284C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_006897	0	0	0	0	0	B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	CCDS8869.1																																																																																			C|0.982;T|0.018		0.741	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			T	54394284	C	T	54394284	2	4	40	1	0	0	0	0	0	0	0	1	7344	900	32	3		3	HOXC9	12	54394284	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	4664149	54394284	79457611	52	9082											
HSP90B1	7184	broad.mit.edu	37	chr12	104332202	104332204	+	In_Frame_Del	DEL	GAA	GAA	-													atgatgaagctgcagtagagGaagaagaagaagaaaagaaa					rs546630977		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr12:104332202_104332204delGAA	ENST00000299767.5	+	7	1122_1124	c.940_942delGAA	c.(940-942)gaadel	p.E318del		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	318					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	tgcagtagaggaagaagaagaag	0.379																																					p.314_314del		.											.	HSP90B1-93	0			c.940_942del						.			45,4219		0,45,2087						-0.2	1			44	116,8138		0,116,4011	no	coding	HSP90B1	NM_003299.1		0,161,6098	A1A1,A1R,RR		1.4054,1.0553,1.2861				161,12357				SO:0001651	inframe_deletion	7184	exon7			GTAGAGGAAGAAG	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.940_942delGAA	12.37:g.104332211_104332213delGAA	ENSP00000299767:p.Glu318del	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	228	8	NM_003299	0	0	0	0	0	Q96A97	In_Frame_Del	DEL	ENST00000299767.5	37	CCDS9094.1																																																																																			.		0.379	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		-	104332204	GAA	-	104332202	7	5	40	1	0	1	0	1	0	0	0	0	7430	1175	41	0	966	0	HSP90B1	12	104332202	In_Frame_Del	DEL	GAA	TCGA-OR-A5KZ-01A-11D-A29I-10	49937918	104332202	29519693	53	9083											
ATXN2	6311	hgsc.bcm.edu	37	chr12	112036797	112036797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	14	12	0	0	rs4098854	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000550104.1_Silent_p.Q174Q|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000608853.1_Silent_p.Q14Q|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1	1	1					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_002973	0	0	131	141	10	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036797	C	T	112036797	2	4	40	1	0	0	0	0	0	0	0	1	1212	796	28	3		3	ATXN2	12	112036797	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	7704595	112036797	21815098	54	9084											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_005537	0	0	0	1	1	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	40	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		111368316	3801562	55	9085											
DAAM1	23002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	59798591	59798591	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaagtcttcaaaattctaGatcttgaagacctggaaaga	7	7	4	4			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr14:59798591G>T	ENST00000395125.1	+	14	1944	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y	DAAM1_ENST00000360909.3_Missense_Mutation_p.D641Y|DAAM1_ENST00000351081.1_Missense_Mutation_p.D641Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	641	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAAATTCTAGATCTTGAAGA	0.368																																					p.D641Y		.											.	DAAM1-227	0			c.G1921T						.						144	153	150					14																	59798591		2203	4300	6503	SO:0001583	missense	23002	exon15			ATTCTAGATCTTG	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1921G>T	14.37:g.59798591G>T	ENSP00000378557:p.Asp641Tyr	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	100	16	NM_001270520	0	0	3	3	0	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565696	0.86439	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.21191	2.02;2.02;2.02	5.85	5.85	0.93711	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.042539	0.85682	D	0.000000	T	0.60573	0.2279	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66340	-0.5948	10	0.36615	T	0.2	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	641;641	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Y	641	ENSP00000354162:D641Y;ENSP00000247170:D641Y;ENSP00000378557:D641Y	ENSP00000247170:D641Y	D	+	1	0	DAAM1	58868344	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.837000	0.99465	2.753000	0.94483	0.655000	0.94253	GAT	.		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59798591	G	T	59798591	3	4	40	1	0	0	0	0	1	0	0	0	4224	942	33	3	1975	3	DAAM1	14	59798591	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		59798591	47550949	56	9086											
SERPINA10	51156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	94752476	94752476	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagatttcttccagtagctGagagttcactaaggtcagca	11	8	3	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr14:94752476G>T	ENST00000393096.1	-	4	1577	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.S371*|SERPINA10_ENST00000554723.1_Nonsense_Mutation_p.S411*|SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.S371*	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	371					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGTAGCTGAGAGTTCACT	0.433																																					p.S371X		.											.	SERPINA10-228	0			c.C1112A						.						106	94	98					14																	94752476		2203	4300	6503	SO:0001587	stop_gained	51156	exon4			GTAGCTGAGAGTT	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1112C>A	14.37:g.94752476G>T	ENSP00000376809:p.Ser371*	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	114	37	NM_001100607	0	0	0	0	0	A5Z2A5|Q6UWX9|Q86U20	Nonsense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	40	8.247121	0.98724	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	.	.	.	5.34	3.51	0.40186	.	0.600583	0.14022	N	0.346720	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	8.5851	0.33653	0.0779:0.0:0.771:0.1511	.	.	.	.	X	411;371;371;371	.	ENSP00000261994:S371X	S	-	2	0	SERPINA10	93822229	0.742000	0.28228	0.002000	0.10522	0.513000	0.34164	4.115000	0.57865	0.635000	0.30488	0.563000	0.77884	TCA	.		0.433	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94752476	G	T	94752476	4	4	40	1	0	0	0	0	0	1	0	0	14132	1294	45	3	230	3	SERPINA10	14	94752476	Nonsense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	34953885	94752476	12597064	57	9087											
HHIPL1	84439	hgsc.bcm.edu	37	chr14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgtggaggtgttcgTgggcggacgctggggcaccg	22	10	0	0	rs7158073	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7	9	8		2075	-3.8	0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_001127258	0	0	1	1	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		C	100141689	T	C	100141689	3	2	40	1	0	0	0	0	1	0	0	0	7120	1696	59	4	2210	4	HHIPL1	14	100141689	Missense_Mutation	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	5389213	100141689	7207851	58	9088											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	40	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10		63414083	39117309	59	9089											
IFT140	9742	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	1642210	1642210	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaaagaacaacagcccctCgtgagaccccatcttcagca	7	15	2	2	rs367721062		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:1642210C>A	ENST00000426508.2	-	6	964	c.601G>T	c.(601-603)Gag>Tag	p.E201*	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	201					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AACAGCCCCTCGTGAGACCCC	0.488																																					p.E201X		.											.	IFT140-95	0			c.G601T						.						160	142	148					16																	1642210		2199	4300	6499	SO:0001587	stop_gained	9742	exon6			GCCCCTCGTGAGA	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.601G>T	16.37:g.1642210C>A	ENSP00000406012:p.Glu201*	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	162	53	NM_014714	0	0	1	2	1	A2A2A8|D3DU75|O60332|Q9UG52	Nonsense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673410	0.96754	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	.	.	.	5.55	4.6	0.57074	.	0.104806	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	13.8936	0.63755	0.0:0.7088:0.2912:0.0	.	.	.	.	X	201	.	ENSP00000380562:E201X	E	-	1	0	IFT140	1582211	0.998000	0.40836	0.660000	0.29694	0.018000	0.09664	3.697000	0.54764	1.360000	0.45960	-0.188000	0.12872	GAG	.		0.488	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1642210	C	A	1642210	4	1	40	1	0	0	0	0	0	1	0	0	7583	893	31	2	3891	2	IFT140	16	1642210	Nonsense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		1642210	88712543	60	9090											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2049849	2049849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacggagcccgtggggcgTgtgctcagaagctcctgcag	17	11	1	2	rs12149722	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:2049849T>C	ENST00000563630.1	-	9	1778	c.1536A>G	c.(1534-1536)acA>acG	p.T512T	ZNF598_ENST00000431526.1_Silent_p.T567T|ZNF598_ENST00000562103.1_Silent_p.T512T|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	567							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						CCGTGGGGCGTGTGCTCAGAA	0.672													T|||	631	0.125998	0.0061	0.2147	5008	,	,		14610	0.0456		0.1829	False		,,,				2504	0.2495				p.T567T		.											.	ZNF598-432	0			c.A1701G						.	T		125,3761		6,113,1824	11	14	13		1703	-5.3	0	16	dbSNP_120	13	1390,6838		115,1160,2839	no	coding-synonymous	ZNF598	NM_178167.2		121,1273,4663	CC,CT,TT		16.8935,3.2167,12.5062		567/905	2049849	1515,10599	1943	4114	6057	SO:0001819	synonymous_variant	90850	exon11			GGGGCGTGTGCTC	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.1536A>G	16.37:g.2049849T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_178167	0	0	7	20	13	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																				T|0.897;C|0.103		0.672	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		C	2049849	T	C	2049849	2	2	40	1	0	0	0	0	0	0	0	1	18076	1683	59	4		4	ZNF598	16	2049849	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	407639	2049849	88304904	61	9091											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	15	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	40	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	1254724	3304573	87050180	62	9092											
DNAH3	55567	broad.mit.edu	37	chr16	21011788	21011790	+	In_Frame_Del	DEL	AAG	AAG	-													catggtctaagtaggttttcAagaagaaggactgccgggct							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:21011788_21011790delAAG	ENST00000261383.3	-	43	6176_6178	c.6177_6179delCTT	c.(6175-6180)ttcttg>ttg	p.F2059del	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2059	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTAGGTTTTCAAGAAGAAGGACT	0.527																																					p.2059_2060del		.											.	DNAH3-167	0			c.6177_6179del						.			0,4264		0,0,2132						3.6	1			151	2,8252		0,2,4125	no	coding	DNAH3	NM_017539.1		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001651	inframe_deletion	55567	exon43			GTTTTCAAGAAGA	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.6177_6179delCTT	16.37:g.21011794_21011796delAAG	ENSP00000261383:p.Phe2059del	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	256	12	NM_017539	0	0	0	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	In_Frame_Del	DEL	ENST00000261383.3	37	CCDS10594.1																																																																																			.		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		-	21011790	AAG	-	21011788	7	5	40	1	0	1	0	1	0	0	0	0	4617	131	5	0	6250	0	DNAH3	16	21011788	In_Frame_Del	DEL	AAG	TCGA-OR-A5KZ-01A-11D-A29I-10	17707215	21011788	69342965	63	9093											
IL4R	3566	broad.mit.edu	37	chr16	27370278	27370278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagattcccaacccagcccGcagccgcctcgtggctataa	8	17	1	1	rs55988941	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:27370278G>T	ENST00000395762.2	+	9	1071	c.812G>T	c.(811-813)cGc>cTc	p.R271L	IL4R_ENST00000380922.3_Missense_Mutation_p.R256L|IL4R_ENST00000170630.2_Missense_Mutation_p.R271L|IL4R_ENST00000543915.2_Missense_Mutation_p.R271L|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	271					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AACCCAGCCCGCAGCCGCCTC	0.478																																					p.R271L		.											.	IL4R-227	0			c.G812T						.						80	77	78					16																	27370278		2197	4300	6497	SO:0001583	missense	3566	exon9			CAGCCCGCAGCCG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.812G>T	16.37:g.27370278G>T	ENSP00000379111:p.Arg271Leu	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	92	4	NM_000418	0	0	5	5	0	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339592	0.24339	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.56	-0.673	0.11373	.	2.019430	0.01676	N	0.025872	T	0.10937	0.0267	L	0.44542	1.39	0.30265	N	0.792805	P;P;B	0.38827	0.649;0.649;0.451	B;B;B	0.32090	0.14;0.14;0.066	T	0.37526	-0.9702	10	0.52906	T	0.07	-17.7949	9.7321	0.40368	0.4166:0.0:0.5834:0.0	.	256;271;271	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	271;271;256;271	ENSP00000379111:R271L;ENSP00000441667:R271L;ENSP00000370309:R256L;ENSP00000170630:R271L	ENSP00000170630:R271L	R	+	2	0	IL4R	27277779	0.921000	0.31238	0.136000	0.22124	0.078000	0.17371	0.845000	0.27668	-0.387000	0.07809	-0.302000	0.09304	CGC	G|0.999;A|0.001		0.478	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27370278	G	T	27370278	3	4	40	1	0	0	0	0	1	0	0	0	7725	1087	38	2	856	2	IL4R	16	27370278	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	6358490	27370278	62984475	64	9094											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	40	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5KZ-01A-11D-A29I-10	61229419	88599697	1755056	65	9095											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000599026.1_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	17	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	40	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10		260182	80935028	66	9096											
GPS2	2874	bcgsc.ca	37	chr17	7217463	7217463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtatgcagctgatgtTagggtggtcaggtcactgga	16	6	2	1	rs2292064	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:7217463T>C	ENST00000380728.2	-	5	633	c.333A>G	c.(331-333)ctA>ctG	p.L111L	GPS2_ENST00000391950.3_Silent_p.L111L|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Silent_p.L111L			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	111					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)				CAGCTGATGTTAGGGTGGTCA	0.493													C|||	2879	0.57488	0.4592	0.6484	5008	,	,		23632	0.6796		0.5179	False		,,,				2504	0.6299				p.L111L		.											.	GPS2-93	0			c.A333G						.	C		2073,2333	606.4+/-390.7	487,1099,617	175	162	166		333	1.3	1	17	dbSNP_100	166	4552,4048	558.3+/-387.2	1227,2098,975	yes	coding-synonymous	GPS2	NM_004489.4		1714,3197,1592	CC,CT,TT		47.0698,47.0495,49.062		111/328	7217463	6625,6381	2203	4300	6503	SO:0001819	synonymous_variant	2874	exon5			TGATGTTAGGGTG	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.333A>G	17.37:g.7217463T>C		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	146	8	NM_004489	0	0	77	77	0	B4DXA1|Q6FHM8	Silent	SNP	ENST00000380728.2	37	CCDS11100.1																																																																																			T|0.476;C|0.524		0.493	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		C	7217463	T	C	7217463	2	2	40	1	0	0	0	0	0	0	0	1	6760	1741	61	4		4	GPS2	17	7217463	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	6957281	7217463	73977747	67	9097											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7578378	7578392	+	In_Frame_Del	DEL	ATCTGAGCAGCGCTC	ATCTGAGCAGCGCTC	-													cccagctgctcaccatcgctAtctgagcagcgctcatggtg					rs587782596|rs72661117|rs397514495		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	ATCTGAGCAGCGCTC	ATCTGAGCAGCGCTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:7578378_7578392delATCTGAGCAGCGCTC	ENST00000269305.4	-	5	727_741	c.538_552delGAGCGCTGCTCAGAT	c.(538-552)gagcgctgctcagatdel	p.ERCSD180del	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Del_p.ERCSD180del|TP53_ENST00000359597.4_In_Frame_Del_p.ERCSD180del|TP53_ENST00000445888.2_In_Frame_Del_p.ERCSD180del|TP53_ENST00000413465.2_In_Frame_Del_p.ERCSD180del|TP53_ENST00000420246.2_In_Frame_Del_p.ERCSD180del	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	180	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.S183*(29)|p.R181H(21)|p.R181C(19)|p.R181P(14)|p.E180*(14)|p.D184N(14)|p.C182S(8)|p.0?(8)|p.D184H(8)|p.P177_C182delPHHERC(8)|p.E180D(6)|p.E180K(5)|p.C182*(5)|p.D184Y(4)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178_S183delHHERCS(3)|p.S183P(3)|p.S90*(2)|p.R88C(2)|p.R49C(2)|p.C182C(2)|p.V173fs*59(2)|p.?(2)|p.S183L(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.S51*(2)|p.R181R(2)|p.D184D(2)|p.R49P(1)|p.C182fs*4(1)|p.R181G(1)|p.E180fs*67(1)|p.D52H(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.H46_S51delHHERCS(1)|p.C176fs*65(1)|p.D91H(1)|p.E180G(1)|p.R174fs*3(1)|p.R181>XXXXXXX(1)|p.E180Q(1)|p.R42fs*24(1)|p.D184fs*24(1)|p.D184fs*63(1)|p.D184fs*62(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.D184fs*4(1)|p.D184fs*2(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.S185fs*63(1)|p.C182fs*65(1)|p.E87D(1)|p.E48D(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R88P(1)|p.S185_D186delSD(1)|p.E180fs*6(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)	CACCATCGCTATCTGAGCAGCGCTCATGGTGGGGG	0.642		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.180_184del	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	242	Substitution - Missense(124)|Substitution - Nonsense(52)|Deletion - In frame(23)|Deletion - Frameshift(19)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - Frameshift(4)|Complex - insertion inframe(2)|Unknown(2)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(39)|lung(38)|upper_aerodigestive_tract(26)|breast(22)|urinary_tract(20)|oesophagus(14)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(11)|ovary(10)|liver(9)|stomach(7)|prostate(7)|biliary_tract(5)|bone(5)|soft_tissue(4)|pancreas(4)|cervix(3)|salivary_gland(3)|endometrium(2)|kidney(1)|skin(1)	c.538_552del	GRCh37	CD031545|CM056067|CM920671|CM920672|CM941328|CM942120	TP53	D|M		.																																			SO:0001651	inframe_deletion	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;	ATCGCTATCTGAG	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.538_552delGAGCGCTGCTCAGAT	17.37:g.7578378_7578392delATCTGAGCAGCGCTC	ENSP00000269305:p.Glu180_Asp184del	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	134	93	NM_000546	0	0	0	0	0	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																			.		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578392	ATCTGAGCAGCGCTC	-	7578378	7	5	40	1	0	1	0	1	0	0	0	0	16429	446	16	0	746	0	TP53	17	7578378	In_Frame_Del	DEL	ATCTGAGCAGCGCTC	TCGA-OR-A5KZ-01A-11D-A29I-10	360915	7578378	73616832	68	9098											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	29554308	29554317	+	Splice_Site	DEL	AGGTATGCCC	AGGTATGCCC	-													tcccactgcaggaaacactgAggtatgcccttagcaacaga							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	AGGTATGCCC	AGGTATGCCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:29554308_29554317delAGGTATGCCC	ENST00000358273.4	+	19	2707_2708	c.2324_2325delAGGTATGCCC	c.(2323-2325)gag>g	p.E775fs	NF1_ENST00000356175.3_Splice_Site_p.E775fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	775					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.E775A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAACACTGAGGTATGCCCTTAGCAACAG	0.462			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.775_775del		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	15	Whole gene deletion(8)|Unknown(5)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(3)|urinary_tract(2)|central_nervous_system(2)|lung(1)	c.2324_2325del	GRCh37	CS030991|CS086412	NF1	S		.																																			SO:0001630	splice_region_variant	4763	exon19	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ACACTGAGGTATG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2325+1AGGTATGCCC>-	17.37:g.29554308_29554317delAGGTATGCCC		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	66	38	NM_000267	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																			.		0.462	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Frame_Shift_Del	-	29554317	AGGTATGCCC	-	29554308	8	5	40	1	0	1	0	1	0	0	1	0	10395	318	11	0	2459	0	NF1	17	29554308	Splice_Site	DEL	AGGTATGCCC	TCGA-OR-A5KZ-01A-11D-A29I-10	21975930	29554308	51640902	69	9099											
KRTAP4-8	728224	ucsc.edu	37	chr17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggggcgacagcagGtgggctggcagcacacagac	17	11	0	1	rs201246375		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																					p.T63S		.											.	.	0			c.C188G						.						7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	728224	exon1			CAGCAGGTGGGCT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser	Somatic	62	2		WXS	Illumina GAIIx	Phase_I	70	14	NM_031960	0	0	0	0	0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC	.		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		C	39254149	G	C	39254149	3	2	40	1	0	0	0	0	1	0	0	0	8584	1261	44	3	373	3	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	9699841	39254149	41941061	70	9100											
MAP3K3	4215	bcgsc.ca	37	chr17	61771099	61771099	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccagagaccttcagctgagGagctgctcacacaccacttt	9	14	2	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:61771099G>C	ENST00000361733.3	+	16	2163	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q	MAP3K3_ENST00000579585.1_Missense_Mutation_p.E646Q|MAP3K3_ENST00000361357.3_Missense_Mutation_p.E646Q|MAP3K3_ENST00000577395.1_Missense_Mutation_p.E611Q|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E642Q	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	615	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						TTCAGCTGAGGAGCTGCTCAC	0.617																																					p.E646Q		.											.	MAP3K3-979	0			c.G1936C						.						72	69	70					17																	61771099		2203	4300	6503	SO:0001583	missense	4215	exon17			GCTGAGGAGCTGC	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.1843G>C	17.37:g.61771099G>C	ENSP00000354485:p.Glu615Gln	Somatic	80	1		WXS	Illumina GAIIx	Phase_I	102	5	NM_203351	0	0	4	4	0	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067068	0.55539	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.27104	1.69;1.69	4.69	4.69	0.59074	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	0.23210	0.0561	N	0.20357	0.565	0.80722	D	1	P;P;B;P	0.38250	0.624;0.624;0.418;0.559	B;B;B;B	0.43445	0.42;0.292;0.326;0.295	T	0.04522	-1.0945	10	0.23891	T	0.37	.	17.6147	0.88064	0.0:0.0:1.0:0.0	.	611;583;615;646	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	Q	646;615	ENSP00000354927:E646Q;ENSP00000354485:E615Q	ENSP00000354927:E646Q	E	+	1	0	MAP3K3	59124831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.879000	0.87236	2.148000	0.66965	0.561000	0.74099	GAG	.		0.617	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		C	61771099	G	C	61771099	3	2	40	1	0	0	0	0	1	0	0	0	9289	1175	41	3	2002	3	MAP3K3	17	61771099	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	22516950	61771099	19424111	71	9101											
QRICH2	84074	bcgsc.ca	37	chr17	74288631	74288631	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggaccaaaccatgctgaActgcaccaggttgagccaaa	10	11	0	2			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:74288631A>T	ENST00000262765.5	-	4	1858	c.1679T>A	c.(1678-1680)gTt>gAt	p.V560D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	560	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACCATGCTGAACTGCACCAGG	0.527																																					p.V560D		.											.	QRICH2-94	0			c.T1679A						.						200	158	172					17																	74288631		2203	4300	6503	SO:0001583	missense	84074	exon4			TGCTGAACTGCAC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1679T>A	17.37:g.74288631A>T	ENSP00000262765:p.Val560Asp	Somatic	410	0		WXS	Illumina GAIIx	Phase_I	416	22	NM_032134	0	0	0	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	a	6.387	0.439484	0.12104	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.07567	3.18	4.93	-9.85	0.00476	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.39961	-0.9588	9	0.11182	T	0.66	2.2727	1.5765	0.02626	0.38:0.2524:0.2497:0.1179	.	560;560	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	560	ENSP00000262765:V560D	ENSP00000262765:V560D	V	-	2	0	QRICH2	71800226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-13.576000	0.00001	-2.255000	0.00696	-3.142000	0.00059	GTT	.		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74288631	A	T	74288631	3	4	40	1	0	0	0	0	1	0	0	0	12925	43	2	5	3376	5	QRICH2	17	74288631	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	12517532	74288631	6906579	72	9102											
GAA	2548	bcgsc.ca	37	chr17	78083791	78083791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggagctacaggccctaCgacgagggtctgcggagggg	19	11	1	0	rs1800305	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:78083791C>T	ENST00000302262.3	+	9	1593	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	GAA_ENST00000390015.3_Silent_p.Y458Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	458			Y -> C. {ECO:0000269|PubMed:22644586}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACAGGCCCTACGACGAGGGTC	0.657													C|||	492	0.0982428	0.2284	0.0533	5008	,	,		15097	0		0.0736	False		,,,				2504	0.0808				p.Y458Y		.											.	GAA-91	0			c.C1374T						.	C	,,	809,3597	304.9+/-288.7	73,663,1467	40	46	44		1374,1374,1374	-8.6	0.6	17	dbSNP_89	44	615,7985	158.0+/-211.6	28,559,3713	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	101,1222,5180	TT,TC,CC		7.1512,18.3613,10.9488	,,	458/953,458/953,458/953	78083791	1424,11582	2203	4300	6503	SO:0001819	synonymous_variant	2548	exon10			GCCCTACGACGAG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1374C>T	17.37:g.78083791C>T		Somatic	147	1		WXS	Illumina GAIIx	Phase_I	153	9	NM_001079803	0	0	29	29	0	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																			C|0.902;T|0.098		0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78083791	C	T	78083791	2	4	40	1	0	0	0	0	0	0	0	1	6171	547	19	1		1	GAA	17	78083791	Silent	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	3795160	78083791	3111419	73	9103											
UTS2R	2837	broad.mit.edu	37	chr17	80333066	80333066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaccaggccccgctggCgccgcggacggcgcgcatcg	15	18	0	0			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr17:80333066C>A	ENST00000313135.2	+	1	914	c.866C>A	c.(865-867)gCg>gAg	p.A289E		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	289					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCCCCGCTGGCGCCGCGGACG	0.672																																					p.A289E		.											.	UTS2R-153	0			c.C866A						.																																			SO:0001583	missense	2837	exon1			CGCTGGCGCCGCG	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.866C>A	17.37:g.80333066C>A	ENSP00000323516:p.Ala289Glu	Somatic	47	2		WXS	Illumina GAIIx	Phase_I	149	14	NM_018949	0	0	0	0	0	B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313287	0.40996	.	.	ENSG00000181408	ENST00000313135	T	0.72051	-0.62	4.95	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.338048	0.28257	U	0.016009	T	0.61375	0.2342	N	0.17723	0.515	0.09310	N	1	P	0.42973	0.796	P	0.50791	0.65	T	0.55711	-0.8098	10	0.07644	T	0.81	.	14.9821	0.71319	0.0:0.5448:0.4552:0.0	.	289	Q9UKP6	UR2R_HUMAN	E	289	ENSP00000323516:A289E	ENSP00000323516:A289E	A	+	2	0	UTS2R	77926355	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.380000	0.20602	0.518000	0.28383	0.637000	0.83480	GCG	.		0.672	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		A	80333066	C	A	80333066	3	1	40	1	0	0	0	0	1	0	0	0	17155	768	27	2	868	2	UTS2R	17	80333066	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	2249275	80333066	862144	74	9104											
C18orf25	147339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	43796373	43796373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggttaaaggtcatcggaGccaaaagcacaaggagagga	13	7	1	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr18:43796373G>A	ENST00000282059.6	+	2	901	c.527G>A	c.(526-528)aGc>aAc	p.S176N	C18orf25_ENST00000321319.6_Missense_Mutation_p.S176N	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	176										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGTCATCGGAGCCAAAAGCAC	0.493																																					p.S176N		.											.	C18orf25-515	0			c.G527A						.						63	66	65					18																	43796373		2055	4184	6239	SO:0001583	missense	147339	exon2			ATCGGAGCCAAAA	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.527G>A	18.37:g.43796373G>A	ENSP00000282059:p.Ser176Asn	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	168	154	NM_145055	0	0	1	5	4	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016165	0.75161	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	L	0.55481	1.735	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.75484	0.979;0.986	T	0.78445	-0.2201	9	0.87932	D	0	-7.0207	19.3124	0.94195	0.0:0.0:1.0:0.0	.	176;176	Q96B23-2;Q96B23	.;CR025_HUMAN	N	176	.	ENSP00000282059:S176N	S	+	2	0	C18orf25	42050371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.412000	0.97347	2.585000	0.87301	0.561000	0.74099	AGC	.		0.493	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		A	43796373	G	A	43796373	3	1	40	1	0	0	0	0	1	0	0	0	1906	971	34	3	529	3	C18orf25	18	43796373	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		43796373	34280875	75	9105											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgccgcccgcccagTgacatggggccggtgaaacc	14	16	0	2	rs8140	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000395423.3_Silent_p.S383S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Silent_p.S434S|TCF3_ENST00000453954.2_Silent_p.S350S|TCF3_ENST00000588136.1_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	4	NM_003200	0	0	18	18	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	40	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10		1619339	57509644	76	9106											
PTPRS	5802	hgsc.bcm.edu	37	chr19	5222831	5222831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgagcgcgttctccGcgcccggctcagccgctgcc	14	18	2	1	rs2230610	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:5222831G>A	ENST00000587303.1	-	17	3071	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	PTPRS_ENST00000348075.2_Missense_Mutation_p.A969V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A969V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A987V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A991V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.A992V|PTPRS_ENST00000588552.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	991	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGCGTTCTCCGCGCCCGGCTC	0.736													G|||	35	0.00698882	0	0.0058	5008	,	,		8299	0		0.0298	False		,,,				2504	0.001				p.A991V		.											.	PTPRS-357	0			c.C2972T						.	G	VAL/ALA,,VAL/ALA,	18,4126		0,18,2054	10	14	13		2972,,2906,	3.5	1	19	dbSNP_98	13	223,7773		3,217,3778	yes	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	3,235,5832	AA,AG,GG		2.7889,0.4344,1.9852	benign,,benign,	991/1949,,969/1911,	5222831	241,11899	2072	3998	6070	SO:0001583	missense	5802	exon18			TTCTCCGCGCCCG	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.2972C>T	19.37:g.5222831G>A	ENSP00000467537:p.Ala991Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_002850	0	0	4	6	2	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	33	0.01510989010989011	0	0.0	6	0.016574585635359115	0	0.0	27	0.03562005277044855	G	13.79	2.342295	0.41498	0.004344	0.027889	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.085994	0.47093	U	0.000244	T	0.35856	0.0946	M	0.65498	2.005	0.80722	D	1	D;P	0.76494	0.999;0.663	D;B	0.71184	0.972;0.196	T	0.55585	-0.8118	10	0.25751	T	0.34	.	16.2373	0.82384	0.0:0.0:1.0:0.0	rs2230610	969;991	Q13332-6;Q13332	.;PTPRS_HUMAN	V	992;991;991;982;987;969	ENSP00000361489:A992V;ENSP00000349932:A991V;ENSP00000262963:A987V;ENSP00000269907:A969V	ENSP00000262963:A987V	A	-	2	0	PTPRS	5173831	0.995000	0.38212	1.000000	0.80357	0.237000	0.25408	2.558000	0.45879	2.257000	0.74773	0.557000	0.71058	GCG	G|0.979;A|0.021		0.736	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5222831	G	A	5222831	3	1	40	1	0	0	0	0	1	0	0	0	12856	1087	38	1	2958	1	PTPRS	19	5222831	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	3603492	5222831	53906152	77	9107											
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccgagcgcacgctggcctCtgtgtgcgccctgctggtgt	15	15	1	0	rs17710707	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5	5	5		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	10	NM_018174	0	0	2	7	5	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		G	17837425	C	G	17837425	3	3	40	1	0	0	0	0	1	0	0	0	9272	913	32	3	1250	3	MAP1S	19	17837425	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	12614594	17837425	41291558	78	9108											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_148169	0	0	0	12	12	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	40	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5KZ-01A-11D-A29I-10	21603493	39440918	19688065	79	9109											
PPM1N	147699	hgsc.bcm.edu	37	chr19	46002368	46002368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgcgagcgcatccacgCcgctggcggcaccatccgcc	13	18	0	0	rs371865410		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:46002368C>T	ENST00000451287.2	+	1	638	c.638C>T	c.(637-639)gCc>gTc	p.A213V	RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396736.2_5'Flank|PPM1N_ENST00000324688.4_Missense_Mutation_p.A135V|PPM1N_ENST00000396735.2_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000401593.1_5'Flank|RTN2_ENST00000590526.1_5'Flank|RTN2_ENST00000245923.4_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	213	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CGCATCCACGCCGCTGGCGGC	0.741																																					p.A213V		.											.	.	0			c.C638T						.		VAL/ALA	0,3628		0,0,1814	7	9	8		638	0.6	0.6	19		8	1,7935		0,1,3967	no	missense	PPM1N	NM_001080401.1	64	0,1,5781	TT,TC,CC		0.0126,0.0,0.0086	possibly-damaging	213/431	46002368	1,11563	1814	3968	5782	SO:0001583	missense	147699	exon1			TCCACGCCGCTGG	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.638C>T	19.37:g.46002368C>T	ENSP00000397050:p.Ala213Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001080401	0	0	0	0	0	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087330	0.55968	0.0	1.26E-4	ENSG00000213889	ENST00000451287;ENST00000396734;ENST00000324688	T;T	0.18810	2.19;2.19	3.95	0.621	0.17643	Protein phosphatase 2C-like (5);	0.329086	0.26103	U	0.026327	T	0.25005	0.0607	M	0.82923	2.615	0.22096	N	0.999366	P	0.37158	0.585	B	0.38921	0.285	T	0.13818	-1.0495	10	0.56958	D	0.05	.	5.8092	0.18457	0.565:0.34:0.095:0.0	.	213	Q8N819	PPM1N_HUMAN	V	213;213;135	ENSP00000397050:A213V;ENSP00000321761:A135V	ENSP00000321761:A135V	A	+	2	0	PPM1N	50694208	0.963000	0.33076	0.567000	0.28434	0.733000	0.41908	1.909000	0.39917	0.035000	0.15519	0.313000	0.20887	GCC	.		0.741	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401		T	46002368	C	T	46002368	3	4	40	1	0	0	0	0	1	0	0	0	12388	739	26	3	640	3	PPM1N	19	46002368	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	6561450	46002368	13126615	80	9110											
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48184474	48184474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcgtcctggggcagccgCcctctgccacccccacggcc	11	20	1	1	rs3745762	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr19:48184474C>T	ENST00000396720.3	+	6	2241	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	683			P -> S (in dbSNP:rs3745762).							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)		GGGGCAGCCGCCCTCTGCCAC	0.731													C|||	1734	0.346246	0.4781	0.317	5008	,	,		10675	0.3214		0.2545	False		,,,				2504	0.3088				p.P683S		.											.	GLTSCR1-48	0			c.C2047T						.	C	SER/PRO	777,1685		98,581,552	2	2	2		2047	1.8	0.6	19	dbSNP_107	2	1019,4295		102,815,1740	yes	missense	GLTSCR1	NM_015711.3	74	200,1396,2292	TT,TC,CC		19.1758,31.5597,23.0967	probably-damaging	683/1561	48184474	1796,5980	1231	2657	3888	SO:0001583	missense	29998	exon6			CAGCCGCCCTCTG	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.2047C>T	19.37:g.48184474C>T	ENSP00000379946:p.Pro683Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_015711	0	0	0	2	2	A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	690	0.3159340659340659	237	0.4817073170731707	97	0.26795580110497236	164	0.2867132867132867	192	0.2532981530343008	C	0.504	-0.869519	0.02570	0.315597	0.191758	ENSG00000063169	ENST00000396720	T	0.29142	1.58	3.98	1.84	0.25277	.	.	.	.	.	T	0.00012	0.0000	L	0.27053	0.805	0.80722	P	0.0	B	0.13594	0.008	B	0.12156	0.007	T	0.46898	-0.9158	8	0.36615	T	0.2	.	1.1554	0.01795	0.1785:0.4436:0.1729:0.205	rs3745762	683	Q9NZM4	GSCR1_HUMAN	S	683	ENSP00000379946:P683S	ENSP00000379946:P683S	P	+	1	0	GLTSCR1	52876286	0.017000	0.18338	0.560000	0.28344	0.253000	0.25986	0.274000	0.18680	1.012000	0.39366	0.561000	0.74099	CCC	C|0.684;T|0.316		0.731	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		T	48184474	C	T	48184474	3	4	40	1	0	0	0	0	1	0	0	0	6500	739	26	3	2061	3	GLTSCR1	19	48184474	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	2182106	48184474	10944509	81	9111											
PANK2	80025	hgsc.bcm.edu	37	chr20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgctgctgcggatgggagGgggccggctcggcgcgccca	19	13	0	0	rs3737084	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	PANK2_ENST00000610179.1_Missense_Mutation_p.G3A|PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2	3	3		,377	4.7	1	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_153638	0	0	0	2	2	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3870124	G	C	3870124	3	2	40	1	0	0	0	0	1	0	0	0	11456	1232	43	3	379	3	PANK2	20	3870124	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		3870124	59155396	82	9112											
L3MBTL	26013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	42157986	42157986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaacacccgtccatgtActtcatcctcaccgtggctg	6	18	3	0			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr20:42157986A>G	ENST00000427442.2	+	9	1127	c.968A>G	c.(967-969)tAc>tGc	p.Y323C	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.Y255C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.Y323C|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.Y255C|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.Y255C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	255					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCGTCCATGTACTTCATCCTC	0.522																																					p.Y323C		.											.	L3MBTL1-227	0			c.A968G						.						200	126	151					20																	42157986		2203	4300	6503	SO:0001583	missense	26013	exon9			CCATGTACTTCAT	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.968A>G	20.37:g.42157986A>G	ENSP00000402107:p.Tyr323Cys	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	446	107	NM_032107	0	0	1	1	0	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026146	0.75390	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.45	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	M	0.82193	2.58	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.91823	0.5469	10	0.87932	D	0	.	10.9604	0.47383	0.8598:0.0:0.0:0.1402	.	323;255;255	Q9Y468-5;Q9Y468-2;Q9Y468-1	.;.;.	C	323;323;255;255;255;41	ENSP00000402107:Y323C;ENSP00000398516:Y323C;ENSP00000362227:Y255C;ENSP00000403316:Y255C;ENSP00000362226:Y255C;ENSP00000410139:Y41C	ENSP00000362226:Y255C	Y	+	2	0	L3MBTL1	41591400	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.020000	0.64066	0.894000	0.36317	0.379000	0.24179	TAC	.		0.522	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		G	42157986	A	G	42157986	3	3	40	1	0	0	0	0	1	0	0	0	8619	391	14	4	786	4	L3MBTL	20	42157986	Missense_Mutation	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	38287862	42157986	20867534	83	9113											
CEBPB	1051	hgsc.bcm.edu;broad.mit.edu	37	chr20	48807902	48807902	+	Frame_Shift_Del	DEL	C	C	-													cgcccccgcgcccgcctcctCcgggcagcaccacgacttcc							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr20:48807902delC	ENST00000303004.3	+	1	527	c.332delC	c.(331-333)tccfs	p.S111fs		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	111					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			cccgccTCCTCCGGGCAGCAC	0.751																																					p.S111fs		.											.	CEBPB-226	0			c.332delC						.						2	3	3					20																	48807902		1764	3596	5360	SO:0001589	frameshift_variant	1051	exon1			CCTCCTCCGGGCA	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.332delC	20.37:g.48807902delC	ENSP00000305422:p.Ser111fs	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	53	18	NM_005194	0	0	0	0	0	A8K671|Q96IH2|Q9H4Z5	Frame_Shift_Del	DEL	ENST00000303004.3	37	CCDS13429.1																																																																																			.		0.751	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		-	48807902	C	-	48807902	7	5	40	1	0	1	0	1	0	0	0	0	3207	855	30	0	334	0	CEBPB	20	48807902	Frame_Shift_Del	DEL	C	TCGA-OR-A5KZ-01A-11D-A29I-10	6649916	48807902	14217618	84	9114											
HSPA13	6782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	15750609	15750609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcattggcaactggcattCcaagatatgcctctgccatt	8	12	1	1			TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr21:15750609C>T	ENST00000285667.3	-	3	558	c.491G>A	c.(490-492)gGa>gAa	p.G164E	HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'Flank	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	164						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AACTGGCATTCCAAGATATGC	0.413																																					p.G164E		.											.	HSPA13-226	0			c.G491A						.						115	102	107					21																	15750609		2203	4300	6503	SO:0001583	missense	6782	exon3			GGCATTCCAAGAT		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.491G>A	21.37:g.15750609C>T	ENSP00000285667:p.Gly164Glu	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	73	44	NM_006948	0	0	8	15	7	B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327584	0.81690	.	.	ENSG00000155304	ENST00000285667	T	0.01185	5.21	5.61	5.61	0.85477	.	0.152878	0.56097	D	0.000022	T	0.08223	0.0205	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00785	-1.1567	10	0.87932	D	0	-17.8883	19.6378	0.95744	0.0:1.0:0.0:0.0	.	164	P48723	HSP13_HUMAN	E	164	ENSP00000285667:G164E	ENSP00000285667:G164E	G	-	2	0	HSPA13	14672480	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.698000	0.68302	2.631000	0.89168	0.655000	0.94253	GGA	.		0.413	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			T	15750609	C	T	15750609	3	4	40	1	0	0	0	0	1	0	0	0	7433	855	30	3	936	3	HSPA13	21	15750609	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		15750609	32379286	85	9115											
CYTSA	23384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	24717579	24717579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaactgcgagacatgcgtGcccagctgggcattaatgag	13	9	0	3	rs113473482		TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr22:24717579G>T	ENST00000314328.9	+	5	916	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A211S|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A211S|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A211S	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	211					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGACATGCGTGCCCAGCTGGG	0.448																																					p.A211S		.											.	SPECC1L-92	0			c.G631T						.						85	88	87					22																	24717579		2203	4300	6503	SO:0001583	missense	23384	exon4			ATGCGTGCCCAGC	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.631G>T	22.37:g.24717579G>T	ENSP00000325785:p.Ala211Ser	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	57	14	NM_001145468	0	0	5	6	1	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249291	0.39797	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59502	0.26;2.74;0.26;3.26;0.9	5.64	4.59	0.56863	.	0.287055	0.37906	N	0.001898	T	0.34919	0.0914	N	0.12182	0.205	0.32380	N	0.554613	B;B	0.17465	0.022;0.01	B;B	0.16289	0.015;0.005	T	0.33979	-0.9847	10	0.14252	T	0.57	-15.3708	10.7678	0.46303	0.0:0.1412:0.7122:0.1465	.	211;211	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	S	239;211;211;211;211;150	ENSP00000393363:A211S;ENSP00000405671:A211S;ENSP00000325785:A211S;ENSP00000439633:A211S;ENSP00000414354:A150S	ENSP00000325785:A211S	A	+	1	0	SPECC1L	23047579	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.339000	0.72969	2.675000	0.91044	0.591000	0.81541	GCC	G|0.500;A|0.500		0.448	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		T	24717579	G	T	24717579	3	4	40	1	0	0	0	0	1	0	0	0	4218	1319	46	3	641	3	CYTSA	22	24717579	Missense_Mutation	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10		24717579	26586987	86	9116											
EIF4ENIF1	56478	bcgsc.ca	37	chr22	31838085	31838085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcggcactgggtacagaGctggatgacaggaggttttc	15	8	0	2	rs5997988	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr22:31838085G>A	ENST00000397525.1	-	17	2449	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	EIF4ENIF1_ENST00000382180.2_Silent_p.S397S|EIF4ENIF1_ENST00000344710.5_Silent_p.S568S|EIF4ENIF1_ENST00000397523.1_Silent_p.S718S|EIF4ENIF1_ENST00000330125.5_Silent_p.S742S|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	742						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGGTACAGAGCTGGATGACA	0.478													G|||	1621	0.323682	0.4039	0.3026	5008	,	,		18314	0.0377		0.4583	False		,,,				2504	0.3865				p.S742S		.											.	EIF4ENIF1-91	0			c.C2226T						.	G	,,	1863,2543	539.4+/-375.3	388,1087,728	104	109	107		2226,1704,2226	-0.7	0.3	22	dbSNP_114	107	3953,4647	550.0+/-385.6	907,2139,1254	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4ENIF1	NM_001164501.1,NM_001164502.1,NM_019843.3	,,	1295,3226,1982	AA,AG,GG		45.9651,42.2833,44.7178	,,	742/986,568/812,742/986	31838085	5816,7190	2203	4300	6503	SO:0001819	synonymous_variant	56478	exon17			TACAGAGCTGGAT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2226C>T	22.37:g.31838085G>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	137	7	NM_019843	0	0	8	8	0	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																			G|0.611;A|0.389		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31838085	G	A	31838085	2	1	40	1	0	0	0	0	0	0	0	1	5051	962	34	3		3	EIF4ENIF1	22	31838085	Silent	SNP	G	TCGA-OR-A5KZ-01A-11D-A29I-10	7120506	31838085	19466481	87	9117											
ACO2	50	bcgsc.ca	37	chr22	41903813	41903813	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgaaccggccgctgacActctcggagaagattgtgta	12	10	1	5	rs137831	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chr22:41903813A>C	ENST00000216254.4	+	3	214	c.192A>C	c.(190-192)acA>acC	p.T64T	ACO2_ENST00000396512.3_Silent_p.T64T	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	64					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						GGCCGCTGACACTCTCGGAGA	0.637													C|||	2095	0.418331	0.3714	0.5418	5008	,	,		18535	0.5734		0.2306	False		,,,				2504	0.4274				p.T64T		.											.	ACO2-290	0			c.A192C						.	C		1536,2870	638.6+/-397.0	276,984,943	25	26	25		192	1.3	1	22	dbSNP_78	25	1819,6781	698.8+/-405.0	213,1393,2694	no	coding-synonymous	ACO2	NM_001098.2		489,2377,3637	CC,CA,AA		21.1512,34.8616,25.7958		64/781	41903813	3355,9651	2203	4300	6503	SO:0001819	synonymous_variant	50	exon3			GCTGACACTCTCG	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.192A>C	22.37:g.41903813A>C		Somatic	262	11		WXS	Illumina GAIIx	Phase_I	287	16	NM_001098	0	0	20	20	0	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	CCDS14017.1																																																																																			A|0.669;C|0.331		0.637	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		C	41903813	A	C	41903813	2	2	40	1	0	0	0	0	0	0	0	1	147	146	6	5		5	ACO2	22	41903813	Silent	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	10065728	41903813	9400753	88	9118											
MAGEB16	139604	bcgsc.ca	37	chrX	35821127	35821127	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaacagtgatcctgcaCgatatgaattcctgtggggc	12	10	0	2	rs4829392	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chrX:35821127C>T	ENST00000399989.1	+	2	1093	c.814C>T	c.(814-816)Cga>Tga	p.R272*	MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.R304*|MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.R272*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.R272*|MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.R272*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGATCCTGCACGATATGAATT	0.483													C|||	2342	0.620397	0.4478	0.4121	3775	,	,		15380	0.5694		0.4195	False		,,,				2504	0.4785				p.R272X		.											.	MAGEB16-66	0			c.C814T						.	C	stop/ARG	2170,1655		540,782,308,305,263	38	38	38		814	-1.3	0	X	dbSNP_111	38	3581,3147		694,1206,987,528,885	yes	stop-gained	MAGEB16	NM_001099921.1		1234,1988,1295,833,1148	TT,TC,T,CC,C		46.7747,43.268,45.5036		272/325	35821127	5751,4802	2198	4300	6498	SO:0001587	stop_gained	139604	exon2			CCTGCACGATATG		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.814C>T	X.37:g.35821127C>T	ENSP00000382871:p.Arg272*	Somatic	175	2		WXS	Illumina GAIIx	Phase_I	210	7	NM_001099921	0	0	0	0	0	A8MU30	Nonsense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	1014	0.6112115732368897	151	0.4415204678362573	102	0.4146341463414634	212	0.5792349726775956	230	0.3885135135135135	C	16.21	3.060037	0.55325	0.56732	0.532253	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.13	-1.27	0.09347	.	0.391845	0.25596	N	0.029598	.	.	.	.	.	.	0.09310	P	0.99999629397	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9248	0.19104	0.5383:0.2869:0.1748:0.0	rs4829392;rs52830693;rs4829392	.	.	.	X	272;304;272;272;272	.	ENSP00000382867:R272X	R	+	1	2	MAGEB16	35731048	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	0.056000	0.14256	-0.423000	0.07394	-0.340000	0.08031	CGA	C|0.355;0|0.042		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			T	35821127	C	T	35821127	4	4	40	1	0	0	0	0	0	1	0	0	9212	528	19	1	816	1	MAGEB16	23	35821127	Nonsense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10		35821127	119449433	89	9119											
TCEAL6	158931	broad.mit.edu	37	chrX	101396073	101396074	+	Frame_Shift_Ins	INS	-	-	T													gcttgccctcgccttgtggcINSttgccctcaccttcggactt							TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chrX:101396073_101396074insT	ENST00000372774.3	-	3	479_480	c.230_231insA	c.(229-231)aagfs	p.K77fs	TCEAL6_ENST00000372773.1_Frame_Shift_Ins_p.K77fs	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CGCCTTGTGGCTTGCCCTCACC	0.624																																					p.K77fs		.											.	TCEAL6-91	0			c.231_232insA						.																																			SO:0001589	frameshift_variant	158931	exon3			TTGTGGCTTGCCC	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.231dupA	X.37:g.101396075_101396075dupT	ENSP00000361860:p.Lys77fs	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	143	8	NM_001006938	0	0	0	0	0	Q5H9J8	Frame_Shift_Ins	INS	ENST00000372774.3	37	CCDS43978.1																																																																																			.		0.624	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		T	101396074	-	T	101396073	7	5	40	1	0	1	1	0	0	0	0	0	15722	796	28	0	324	0	TCEAL6	23	101396073	Frame_Shift_Ins	INS	-	TCGA-OR-A5KZ-01A-11D-A29I-10	65574946	101396073	53874487	90	9120											
CT45A5	441521	bcgsc.ca	37	chrX	134948034	134948034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaaattgctggtaacAtttcctcccacaggtgcatt	8	11	0	1	rs2034920	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chrX:134948034A>G	ENST00000463085.2	-	3	380	c.291T>C	c.(289-291)aaT>aaC	p.N97N	CT45A5_ENST00000370724.3_Silent_p.N97N|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Silent_p.N97N			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	97										endometrium(1)|large_intestine(2)|lung(6)	9						TGCTGGTAACATTTCCTCCCA	0.433													.|||	3151	0.834702	0.6876	0.5937	3775	,	,		15275	0.6577		0.5487	False		,,,				2504	0.6288				p.N97N		.											.	CT45A5-44	0			c.T291C						.	G	,	3268,552		1196,387,489,49,67	207	192	197		291,291	0.5	0	X	dbSNP_94	197	4926,1768		1325,883,1393,217,451	no	coding-synonymous,coding-synonymous	CT45A5	NM_001007551.3,NM_001172288.1	,	2521,1270,1882,266,518	GG,GA,G,AA,A		26.4117,14.4503,22.0658	,	97/190,97/190	134948034	8194,2320	2188	4269	6457	SO:0001819	synonymous_variant	441521	exon3			GGTAACATTTCCT	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.291T>C	X.37:g.134948034A>G		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	105	8	NM_001007551	0	0	0	0	0	A8K842|B7ZMC5	Silent	SNP	ENST00000463085.2	37	CCDS35406.1																																																																																			0|0.004;T|0.049		0.433	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		G	134948034	A	G	134948034	2	3	40	1	0	0	0	0	0	0	0	1	3997	214	8	4		4	CT45A5	23	134948034	Silent	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	33551961	134948034	20322526	91	9121											
ARHGAP4	393	bcgsc.ca	37	chrX	153176254	153176254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccaccgagtccaggtcAtgggcagtgcagccctccac	12	17	1	0	rs2070097	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chrX:153176254A>G	ENST00000350060.5	-	15	1757	c.1716T>C	c.(1714-1716)caT>caC	p.H572H	ARHGAP4_ENST00000393721.1_Silent_p.H394H|ARHGAP4_ENST00000370016.1_Silent_p.H551H|ARHGAP4_ENST00000370028.3_Silent_p.H612H|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Silent_p.H549H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	572	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCAGGTCATGGGCAGTGC	0.682											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	2661	0.704901	0.6914	0.4928	3775	,	,		6158	0.5437		0.3062	False		,,,				2504	0.5613				p.H612H		.											.	ARHGAP4-227	0			c.T1836C						.	G	,	3240,563		1191,370,488,60,73	13	15	15		1836,1716	-6.9	0	X	dbSNP_96	15	2616,4076		384,1102,746,931,1112	no	coding-synonymous,coding-synonymous	ARHGAP4	NM_001164741.1,NM_001666.4	,	1575,1472,1234,991,1185	GG,GA,G,AA,A		39.0915,14.8041,44.202	,	612/987,572/947	153176254	5856,4639	2182	4275	6457	SO:0001819	synonymous_variant	393	exon16			CAGGTCATGGGCA	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1716T>C	X.37:g.153176254A>G		Somatic	40	0	1753	WXS	Illumina GAIIx	Phase_I	36	4	NM_001164741	0	0	16	16	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	1043	0.6286919831223629	234	0.7959183673469388	118	0.44696969696969696	218	0.5828877005347594	163	0.26547231270358307	a	0.105	-1.146679	0.01714	0.851959	0.390915	ENSG00000089820	ENST00000454164;ENST00000442172	.	.	.	4.61	-6.94	0.01633	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.24137	P	0.99574145	.	.	.	.	.	.	T	0.07009	-1.0795	3	.	.	.	.	7.0917	0.25287	0.6809:0.0919:0.1343:0.0929	rs2070097;rs17846493;rs17859557;rs61248836;rs2070097	.	.	.	T	72;61	.	.	M	-	2	0	ARHGAP4	152829448	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.160000	0.03147	-2.323000	0.00639	-2.187000	0.00313	ATG	A|0.354;G|0.646		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		G	153176254	A	G	153176254	2	3	40	1	0	0	0	0	0	0	0	1	885	214	8	4		4	ARHGAP4	23	153176254	Silent	SNP	A	TCGA-OR-A5KZ-01A-11D-A29I-10	18228220	153176254	2094306	92	9122											
PLXNA3	55558	bcgsc.ca	37	chrX	153694334	153694334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcaccatcgtgggtgaCaacctgggcctcttgtcccg	13	14	2	1	rs5945430	byFrequency	TCGA-OR-A5KZ-01A-11D-A29I-10	TCGA-OR-A5KZ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d5d4c41b-6ff9-4b93-aea8-e6caef2209e1	4d364400-c9b7-492f-a193-1beeeb2b1d82	g.chrX:153694334C>G	ENST00000369682.3	+	14	2764	c.2589C>G	c.(2587-2589)gaC>gaG	p.D863E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	863	IPT/TIG 1.		D -> E (in dbSNP:rs5945430). {ECO:0000269|PubMed:8570614}.		axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGGGTGACAACCTGGGCC	0.642													g|||	1453	0.384901	0.6725	0.0994	3775	,	,		12442	0.128		0.0875	False		,,,				2504	0.2843				p.D863E		.											.	PLXNA3-132	0			c.C2589G						.		GLU/ASP	3042,793		1031,515,465,86,106	64	57	59		2589	4.4	1	X	dbSNP_114	59	895,5833		46,535,268,1847,1604	no	missense	PLXNA3	NM_017514.3	45	1077,1050,733,1933,1710	GG,GC,G,CC,C		13.3026,20.678,37.2716	benign	863/1872	153694334	3937,6626	2203	4300	6503	SO:0001583	missense	55558	exon14			GGGTGACAACCTG	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.2589C>G	X.37:g.153694334C>G	ENSP00000358696:p.Asp863Glu	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	196	6	NM_017514	0	0	8	8	0	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	482	0.29053646775165765	225	0.7867132867132867	24	0.06857142857142857	38	0.07063197026022305	44	0.062146892655367235	G	0.144	-1.099405	0.01843	0.79322	0.133026	ENSG00000130827	ENST00000369682	T	0.75821	-0.97	5.32	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.129129	0.52532	N	0.000076	T	0.00012	0.0000	N	0.00041	-2.485	0.46499	P	9.219999999999784E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42865	-0.9426	9	0.06365	T	0.9	.	7.6459	0.28321	0.0881:0.3108:0.6011:0.0	rs5945430;rs58038932	863	P51805	PLXA3_HUMAN	E	863	ENSP00000358696:D863E	ENSP00000358696:D863E	D	+	3	2	PLXNA3	153347528	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	2.837000	0.48191	1.024000	0.39682	-0.176000	0.13171	GAC	C|0.625;G|0.375		0.642	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		G	153694334	C	G	153694334	3	3	40	1	0	0	0	0	1	0	0	0	12160	477	17	3	2639	3	PLXNA3	23	153694334	Missense_Mutation	SNP	C	TCGA-OR-A5KZ-01A-11D-A29I-10	518080	153694334	1576226	93	9123											
ATAD3B	83858	bcgsc.ca	37	chr1	1431165	1431165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttgtggtggcggtcggCcgttctgccccccagggcac	15	14	2	0	rs9792879		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr1:1431165C>T	ENST00000308647.7	+	16	2031	c.1915C>T	c.(1915-1917)Ccg>Tcg	p.P639S		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	639						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.P639S(1)		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)		TGGCGGTCGGCCGTTCTGCCC	0.647																																					p.P639S		.											.	ATAD3B-44	1	Substitution - Missense(1)	skin(1)	c.C1915T						.						33	33	33					1																	1431165		2202	4300	6502	SO:0001583	missense	83858	exon16			GGTCGGCCGTTCT	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.1915C>T	1.37:g.1431165C>T	ENSP00000311766:p.Pro639Ser	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_031921	0	0	0	0	0	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	476	0.21794871794871795	147	0.29878048780487804	60	0.16574585635359115	170	0.2972027972027972	99	0.13060686015831136	c	11.49	1.652810	0.29336	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.93811	-3.29	1.39	0.415	0.16411	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	8.000000000008E-6	B;B	0.22604	0.072;0.024	B;B	0.12156	0.007;0.002	T	0.11324	-1.0592	8	0.87932	D	0	.	3.748	0.08555	0.0:0.7411:0.0:0.2589	rs9792879	593;639	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	S	473;639	ENSP00000311766:P639S	ENSP00000311766:P639S	P	+	1	0	ATAD3B	1421028	0.034000	0.19679	0.001000	0.08648	0.022000	0.10575	0.000000	0.12993	0.145000	0.18977	0.194000	0.17425	CCG	C|0.782;T|0.218		0.647	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		T	1431165	C	T	1431165	3	4	41	1	0	0	0	0	1	0	0	0	1075	739	26	3	1977	3	ATAD3B	1	1431165	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		1431165	247819456	1	9124											
ARHGEF16	27237	bcgsc.ca	37	chr1	3395039	3395039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaaccacatccaggtGgagaagatagagccgtctga	12	9	1	6	rs10797395	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr1:3395039G>A	ENST00000378378.4	+	12	2082	c.1677G>A	c.(1675-1677)gtG>gtA	p.V559V	ARHGEF16_ENST00000378373.1_Silent_p.V271V|ARHGEF16_ENST00000378371.2_Silent_p.V271V|ARHGEF16_ENST00000413250.2_Silent_p.V263V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	559	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACATCCAGGTGGAGAAGATAG	0.652													G|||	3436	0.686102	0.3873	0.7637	5008	,	,		17081	0.6766		0.8628	False		,,,				2504	0.863				p.V559V		.											.	ARHGEF16-228	0			c.G1677A						.	G		2073,2325	564.1+/-381.3	495,1083,621	89	83	85		1677	-0.2	0.1	1	dbSNP_120	85	7453,1123	764.3+/-407.6	3231,991,66	no	coding-synonymous	ARHGEF16	NM_014448.3		3726,2074,687	AA,AG,GG		13.0947,47.1351,26.5762		559/710	3395039	9526,3448	2199	4288	6487	SO:0001819	synonymous_variant	27237	exon12			CCAGGTGGAGAAG	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1677G>A	1.37:g.3395039G>A		Somatic	726	5		WXS	Illumina GAIIx	Phase_I	602	13	NM_014448	0	0	0	0	0	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																			G|0.281;A|0.719		0.652	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3395039	G	A	3395039	2	1	41	1	0	0	0	0	0	0	0	1	899	1335	47	3		3	ARHGEF16	1	3395039	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	1963874	3395039	245855582	2	9125											
AMPD2	271	bcgsc.ca	37	chr1	110170896	110170896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacacgctggatgtgcaTgcggtctgtgccagtggcgt	17	9	1	0	rs863978	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr1:110170896T>C	ENST00000256578.3	+	10	1794	c.1434T>C	c.(1432-1434)caT>caC	p.H478H	AMPD2_ENST00000528667.1_Silent_p.H478H|AMPD2_ENST00000342115.4_Silent_p.H397H|AMPD2_ENST00000393688.3_Silent_p.H359H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Silent_p.H360H|AMPD2_ENST00000358729.4_Silent_p.H403H|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	478					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGATGTGCATGCGGTCTGTG	0.622													T|||	4045	0.807708	0.7337	0.7695	5008	,	,		19104	0.9802		0.6769	False		,,,				2504	0.8916				p.H478H		.											.	AMPD2-292	0			c.T1434C						.	T	,,	3331,1075	722.3+/-409.3	1256,819,128	76	71	73		1434,1191,1077	-1.8	1	1	dbSNP_86	73	5568,3032	663.0+/-402.0	1798,1972,530	no	coding-synonymous,coding-synonymous,coding-synonymous	AMPD2	NM_004037.6,NM_139156.2,NM_203404.1	,,	3054,2791,658	CC,CT,TT		35.2558,24.3985,31.5777	,,	478/880,397/799,359/761	110170896	8899,4107	2203	4300	6503	SO:0001819	synonymous_variant	271	exon11			TGTGCATGCGGTC	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1434T>C	1.37:g.110170896T>C		Somatic	147	1		WXS	Illumina GAIIx	Phase_I	148	6	NM_001257360	0	0	0	0	0	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	CCDS805.1	1713	0.7843406593406593	371	0.7540650406504065	270	0.7458563535911602	563	0.9842657342657343	509	0.6715039577836411	T	7.305	0.613917	0.14066	0.756015	0.647442	ENSG00000116337	ENST00000369840	.	.	.	5.04	-1.77	0.07982	.	.	.	.	.	T	0.24084	0.0583	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.20338	-1.0278	3	.	.	.	-42.0812	10.0817	0.42393	0.0:0.3024:0.0:0.6976	rs863978;rs2228425;rs11556215;rs60258788;rs863978	.	.	.	R	449	.	.	C	+	1	0	AMPD2	109972419	0.042000	0.20092	0.994000	0.49952	0.692000	0.40212	-0.772000	0.04694	-0.169000	0.10834	-0.441000	0.05720	TGC	T|0.265;C|0.735		0.622	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			C	110170896	T	C	110170896	2	2	41	1	0	0	0	0	0	0	0	1	586	1461	51	4		4	AMPD2	1	110170896	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	106775857	110170896	139079725	3	9126											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859428	149859428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgagcgcgacttggccttAgcgcgggccttgcctccctg	14	15	0	0			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr1:149859428A>G	ENST00000331128.3	-	1	38	c.39T>C	c.(37-39)gcT>gcC	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A13A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACTTGGCCTTAGCGCGGGCCT	0.587																																					p.A13A		.											.	HIST2H2AB-154	1	Substitution - coding silent(1)	kidney(1)	c.T39C						.						56	63	61					1																	149859428		2202	4290	6492	SO:0001819	synonymous_variant	317772	exon1			GGCCTTAGCGCGG	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.39T>C	1.37:g.149859428A>G		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	117	5	NM_175065	0	0	0	0	0		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																			.		0.587	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		G	149859428	A	G	149859428	2	3	41	1	0	0	0	0	0	0	0	1	7204	407	15	4		4	HIST2H2AB	1	149859428	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	39688532	149859428	99391193	4	9127											
PGLYRP4	57115	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	153309754	153309754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccccttcataaatggcGccatcctggcccaccaggaa	7	18	1	0	rs184556258	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr1:153309754G>A	ENST00000359650.5	-	8	910	c.846C>T	c.(844-846)ggC>ggT	p.G282G	PGLYRP4_ENST00000368739.3_Silent_p.G278G	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	282					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATAAATGGCGCCATCCTGGC	0.502													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		20085	0		0	False		,,,				2504	0				p.G282G		.											.	PGLYRP4-94	0			c.C846T						.	G		0,4406		0,0,2203	65	55	59		846	-6.7	0	1		59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGLYRP4	NM_020393.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		282/374	153309754	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57115	exon8			AATGGCGCCATCC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.846C>T	1.37:g.153309754G>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	63	56	NM_020393	0	0	0	0	0	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	CCDS30871.1																																																																																			G|0.999;A|0.000		0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		A	153309754	G	A	153309754	2	1	41	1	0	0	0	0	0	0	0	1	11835	1074	38	1		1	PGLYRP4	1	153309754	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	3450326	153309754	95940867	5	9128											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000397714.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	41	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10		110372192	132827181	6	9129											
WDR33	55339	broad.mit.edu	37	chr2	128471416	128471416	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttgtcagggtggaagtcatCtggtctgctgaagtcatcgg	14	8	5	1	rs145331578	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr2:128471416C>G	ENST00000322313.4	-	18	3207	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1017					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)		TGGAAGTCATCTGGTCTGCTG	0.637																																					p.D1017H		.											.	WDR33-90	0			c.G3049C						.	C	HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	148	153	152		3049	5.8	1	2	dbSNP_134	152	3,8597	3.0+/-9.4	0,3,4297	yes	missense	WDR33	NM_018383.4	81	0,4,6499	GG,GC,CC		0.0349,0.0227,0.0308	probably-damaging	1017/1337	128471416	4,13002	2203	4300	6503	SO:0001583	missense	55339	exon18			AGTCATCTGGTCT		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.3049G>C	2.37:g.128471416C>G	ENSP00000325377:p.Asp1017His	Somatic	111	2		WXS	Illumina GAIIx	Phase_I	96	3	NM_018383	0	0	0	0	0	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235509	0.79800	2.27E-4	3.49E-4	ENSG00000136709	ENST00000322313	D	0.90385	-2.66	5.81	5.81	0.92471	.	0.081930	0.51477	D	0.000083	D	0.85261	0.5656	N	0.14661	0.345	0.80722	D	1	B	0.26258	0.145	B	0.31191	0.125	T	0.80160	-0.1498	10	0.32370	T	0.25	-5.3868	20.0726	0.97729	0.0:1.0:0.0:0.0	.	1017	Q9C0J8	WDR33_HUMAN	H	1017	ENSP00000325377:D1017H	ENSP00000325377:D1017H	D	-	1	0	WDR33	128187886	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.018000	0.70811	2.738000	0.93877	0.655000	0.94253	GAT	C|1.000;G|0.000		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		G	128471416	C	G	128471416	3	3	41	1	0	0	0	0	1	0	0	0	17336	913	32	3	981	3	WDR33	2	128471416	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	18099224	128471416	114727957	7	9130											
TLK1	9874	bcgsc.ca	37	chr2	171850329	171850329	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagggggtgtaggggaTgctgtcagcccagccatgtg	18	7	1	1	rs3731993	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr2:171850329T>G	ENST00000431350.2	-	21	2666	c.2262A>C	c.(2260-2262)gcA>gcC	p.A754A	TLK1_ENST00000434911.2_Silent_p.A658A|TLK1_ENST00000360843.3_Silent_p.A775A|TLK1_ENST00000442919.2_Silent_p.A706A|TLK1_ENST00000521943.1_Silent_p.A706A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	754					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTGTAGGGGATGCTGTCAGCC	0.438													T|||	566	0.113019	0.0083	0.1037	5008	,	,		17307	0.2917		0.0209	False		,,,				2504	0.1718				p.A754A		.											.	TLK1-439	0			c.A2262C						.	T	,,	72,4334	64.1+/-101.4	0,72,2131	156	144	148		2118,1974,2262	4.9	1	2	dbSNP_107	148	147,8453	72.6+/-135.2	2,143,4155	no	coding-synonymous,coding-synonymous,coding-synonymous	TLK1	NM_001136554.1,NM_001136555.1,NM_012290.4	,,	2,215,6286	GG,GT,TT		1.7093,1.6341,1.6838	,,	706/719,658/671,754/767	171850329	219,12787	2203	4300	6503	SO:0001819	synonymous_variant	9874	exon21			AGGGGATGCTGTC	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2262A>C	2.37:g.171850329T>G		Somatic	208	0		WXS	Illumina GAIIx	Phase_I	181	6	NM_012290	0	0	0	0	0	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Silent	SNP	ENST00000431350.2	37	CCDS2241.1																																																																																			T|0.951;G|0.049		0.438	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		G	171850329	T	G	171850329	2	3	41	1	0	0	0	0	0	0	0	1	15990	1451	51	5		5	TLK1	2	171850329	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	43378913	171850329	71349044	8	9131											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	rs121913407		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.S45P	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	c.T133C						.						84	74	78					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GCTCCTTCTCTGA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	137	45	NM_001098209	0	0	0	0	0	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT	.		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		C	41266136	T	C	41266136	3	2	41	1	0	0	0	0	1	0	0	0	4025	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		41266136	156756294	9	9132											
FBXW12	285231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	48420011	48420011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaaaggatggcccattcCtgatggtaagtgagccctga	11	9	0	3			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr3:48420011C>T	ENST00000296438.5	+	6	796	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	FBXW12_ENST00000436231.1_Silent_p.L47L|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Silent_p.L185L	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	204										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCCCATTCCTGATGGTAAG	0.478																																					p.L204L		.											.	FBXW12-226	0			c.C610T						.						51	45	47					3																	48420011		2203	4300	6503	SO:0001819	synonymous_variant	285231	exon6			CCATTCCTGATGG	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.610C>T	3.37:g.48420011C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	83	29	NM_207102	0	0	0	0	0	E9PG36|Q494Y9|Q494Z0	Silent	SNP	ENST00000296438.5	37	CCDS2764.1																																																																																			.		0.478	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		T	48420011	C	T	48420011	2	4	41	1	0	0	0	0	0	0	0	1	5787	680	24	3		3	FBXW12	3	48420011	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	7153875	48420011	149602419	10	9133											
WDR6	11180	broad.mit.edu	37	chr3	49050036	49050036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcaaggctgtgactctgGctggctcttggcgactgctg	13	12	3	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr3:49050036G>T	ENST00000608424.1	+	2	1108	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.A387S|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A306S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	357					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTGACTCTGGCTGGCTCTTG	0.577																																					p.A387S		.											.	WDR6-90	0			c.G1159T						.						48	50	50					3																	49050036		2203	4300	6503	SO:0001583	missense	11180	exon2			ACTCTGGCTGGCT	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1069G>T	3.37:g.49050036G>T	ENSP00000477389:p.Ala357Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	99	4	NM_018031	0	0	0	0	0	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	G	15.04	2.715681	0.48622	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.58940	0.3;0.31	5.28	4.4	0.53042	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.126994	0.51477	D	0.000093	T	0.38558	0.1045	N	0.08118	0	0.27808	N	0.942243	D;P;D	0.59357	0.985;0.924;0.985	P;B;B	0.50537	0.643;0.258;0.444	T	0.32079	-0.9920	10	0.05620	T	0.96	-14.9498	10.6719	0.45764	0.1518:0.0:0.8482:0.0	.	228;357;306	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	387;306	ENSP00000378857:A387S;ENSP00000413432:A306S	ENSP00000378857:A387S	A	+	1	0	WDR6	49025040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.742000	0.62103	2.478000	0.83669	0.561000	0.74099	GCT	.		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			T	49050036	G	T	49050036	3	4	41	1	0	0	0	0	1	0	0	0	17359	1203	42	3	1165	3	WDR6	3	49050036	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	630025	49050036	148972394	11	9134											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	41	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	73581860	122631896	75390534	12	9135											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388726	1388726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgcccaTgcggagtgcccgcctgctca	11	18	2	0	rs199689156	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr4:1388726T>C	ENST00000324803.4	+	1	3387	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697																																					p.C143R		.											.	CRIPAK-90	0			c.T427C						.						38	37	37					4																	1388726		1908	3685	5593	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.427T>C	4.37:g.1388726T>C	ENSP00000323978:p.Cys143Arg	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	116	7	NM_175918	0	0	0	0	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.608|8.608	0.888529|0.888529	0.17540|0.17540	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	0.948|0.948	-0.668|-0.668	0.11392|0.11392	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.27594|.	0.182|.	B|.	0.13407|.	0.009|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|6	0.51188|0.06365	T|T	0.08|0.9	.|.	4.4755|4.4755	0.11733|0.11733	0.0:0.2357:0.0:0.7643|0.0:0.2357:0.0:0.7643	.|.	143|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	143|126	ENSP00000323978:C143R|.	ENSP00000323978:C143R|ENSP00000372402:M126T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378726|1378726	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.703000|-0.703000	0.05063|0.05063	-0.155000|-0.155000	0.11098|0.11098	0.102000|0.102000	0.15555|0.15555	TGC|ATG	T|0.980;C|0.020		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388726	T	C	1388726	3	2	41	1	0	0	0	0	1	0	0	0	3884	1464	51	4	429	4	CRIPAK	4	1388726	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		1388726	189765550	13	9136											
ANTXR2	118429	bcgsc.ca	37	chr4	80898808	80898808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcgcatcaaagaaacCcggtcatactgccgcctcaa	9	13	3	2	rs35798108	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr4:80898808C>T	ENST00000307333.7	-	16	1397	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R	ANTXR2_ENST00000403729.2_Silent_p.R465R|ANTXR2_ENST00000346652.6_Silent_p.R362R|ANTXR2_ENST00000404191.1_Silent_p.R388R	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	465					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TCAAAGAAACCCGGTCATACT	0.443									Juvenile Hyaline Fibromatosis				C|||	223	0.0445288	0.0189	0.0519	5008	,	,		15728	0.0109		0.0915	False		,,,				2504	0.0603				p.R465R		.											.	ANTXR2-23	0			c.G1395A						.	C	,	84,3628		2,80,1774	65	58	60		1395,1395	0.3	1	4	dbSNP_126	60	812,7396		36,740,3328	no	coding-synonymous,coding-synonymous	ANTXR2	NM_001145794.1,NM_058172.5	,	38,820,5102	TT,TC,CC		9.8928,2.2629,7.5168	,	465/490,465/489	80898808	896,11024	1856	4104	5960	SO:0001819	synonymous_variant	118429	exon16	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AGAAACCCGGTCA	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1395G>A	4.37:g.80898808C>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	159	7	NM_001145794	0	0	0	0	0	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	CCDS47086.1																																																																																			C|0.936;T|0.064		0.443	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		T	80898808	C	T	80898808	2	4	41	1	0	0	0	0	0	0	0	1	712	610	22	3		3	ANTXR2	4	80898808	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	79510082	80898808	110255468	14	9137											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgagcagcgccgcAgccccgggctctgccccccg	14	19	1	1	rs2662263	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB-AS1_ENST00000505362.1_RNA|RGMB_ENST00000308234.7_Missense_Mutation_p.S63R|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1	0.9885	5008	,	,		8183	1		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1	1	1					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98109838	A	C	98109838	3	2	41	1	0	0	0	0	1	0	0	0	13326	188	7	5	193	5	RGMB	5	98109838	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10		98109838	82805422	15	9138											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	41	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	34039846	132149684	48765576	16	9139											
PCDHA9	9752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140230462	140230462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctctgcttcctcagaTtcaactgggaaggtgggttt	11	10	3	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr5:140230462T>G	ENST00000532602.1	+	1	3415	c.2382T>G	c.(2380-2382)gaT>gaG	p.D794E	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D794E|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	794	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CTTCCTCAGATTCAACTGGGA	0.448																																					p.D794E	Melanoma(55;1800 1972 14909)	.											.	PCDHA9-138	0			c.T2382G						.						50	55	53					5																	140230462		2196	4266	6462	SO:0001583	missense	9752	exon1			CTCAGATTCAACT	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.2382T>G	5.37:g.140230462T>G	ENSP00000436042:p.Asp794Glu	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	334	154	NM_031857	0	0	0	0	0	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	9.601	1.128645	0.21041	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.11063	2.81;2.81	4.42	-5.97	0.02227	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.30937	0.001;0.301	B;B	0.31495	0.001;0.131	T	0.42378	-0.9455	9	0.18710	T	0.47	.	1.9318	0.03328	0.1102:0.2666:0.2179:0.4053	.	794;794	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	E	794	ENSP00000436042:D794E;ENSP00000367362:D794E	ENSP00000367362:D794E	D	+	3	2	PCDHA9	140210646	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.018000	0.01444	-0.900000	0.03896	-0.415000	0.06103	GAT	.		0.448	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140230462	T	G	140230462	3	3	41	1	0	0	0	0	1	0	0	0	11570	1490	52	5	2384	5	PCDHA9	5	140230462	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	8080778	140230462	40684798	17	9140											
ITPR3	3710	bcgsc.ca	37	chr6	33653486	33653486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccccagcctgcgccGggggcacgaggtgagcgaac	18	14	0	1	rs12528378	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr6:33653486G>A	ENST00000374316.5	+	42	6609	c.5549G>A	c.(5548-5550)cGg>cAg	p.R1850Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1850Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1850			R -> Q (in dbSNP:rs12528378).		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)	AGCCTGCGCCGGGGGCACGAG	0.657													g|||	167	0.0333466	0.0023	0.062	5008	,	,		20882	0.005		0.0984	False		,,,				2504	0.0174				p.R1850Q		.											.	ITPR3-1085	0			c.G5549A						.		GLN/ARG	87,4319	70.9+/-108.8	0,87,2116	66	62	63		5549	3.8	1	6	dbSNP_120	63	854,7746	189.6+/-236.3	50,754,3496	yes	missense	ITPR3	NM_002224.3	43	50,841,5612	AA,AG,GG		9.9302,1.9746,7.2351	benign	1850/2672	33653486	941,12065	2203	4300	6503	SO:0001583	missense	3710	exon41			TGCGCCGGGGGCA	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.5549G>A	6.37:g.33653486G>A	ENSP00000363435:p.Arg1850Gln	Somatic	250	3		WXS	Illumina GAIIx	Phase_I	228	11	NM_002224	0	0	0	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	111	0.050824175824175824	3	0.006097560975609756	25	0.06906077348066299	4	0.006993006993006993	79	0.10422163588390501	G	10.28	1.306279	0.23736	0.019746	0.099302	ENSG00000096433	ENST00000374316	D	0.91843	-2.92	4.69	3.81	0.43845	.	0.392432	0.23809	N	0.044353	T	0.69637	0.3133	L	0.28400	0.85	0.19775	N	0.999952	B	0.31009	0.303	B	0.27380	0.079	T	0.58962	-0.7543	10	0.13853	T	0.58	-21.4683	5.0338	0.14423	0.1979:0.1733:0.6288:0.0	rs12528378	1850	Q14573	ITPR3_HUMAN	Q	1850	ENSP00000363435:R1850Q	ENSP00000363435:R1850Q	R	+	2	0	ITPR3	33761464	0.800000	0.28916	1.000000	0.80357	0.906000	0.53458	1.127000	0.31357	0.960000	0.38005	0.313000	0.20887	CGG	G|0.935;A|0.065		0.657	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33653486	G	A	33653486	3	1	41	1	0	0	0	0	1	0	0	0	7949	1116	39	1	5711	1	ITPR3	6	33653486	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		33653486	137461581	18	9141											
TAAR5	9038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	132910157	132910157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtctggtagcaaccacAaagatcttcacatacaagct	7	12	3	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr6:132910157A>G	ENST00000258034.2	-	1	720	c.669T>C	c.(667-669)ttT>ttC	p.F223F		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	223					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TAGCAACCACAAAGATCTTCA	0.493																																					p.F223F		.											.	TAAR5-91	0			c.T669C						.						45	45	45					6																	132910157		2203	4300	6503	SO:0001819	synonymous_variant	9038	exon1			AACCACAAAGATC	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.669T>C	6.37:g.132910157A>G		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	75	27	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																			.		0.493	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		G	132910157	A	G	132910157	2	3	41	1	0	0	0	0	0	0	0	1	15538	127	5	4		4	TAAR5	6	132910157	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	99256671	132910157	38204910	19	9142											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	LRP11_ENST00000546019.1_Intron|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|RP11-244K5.8_ENST00000606915.1_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_032832	0	0	0	0	0	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	41	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	17274725	150184882	20930185	20	9143											
BCL7B	9275	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	72952314	72952314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgagggtaggaggttcatCagcaacttccgaggagggca	17	7	2	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr7:72952314C>A	ENST00000223368.2	-	5	889	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	BCL7B_ENST00000411832.1_Missense_Mutation_p.D99Y|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	156							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTTCATCAGCAACTTCC	0.532																																					p.D156Y		.											.	BCL7B-228	0			c.G466T						.						126	114	118					7																	72952314		2203	4300	6503	SO:0001583	missense	9275	exon5			GTTCATCAGCAAC	X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.466G>T	7.37:g.72952314C>A	ENSP00000223368:p.Asp156Tyr	Somatic	187	1		WXS	Illumina GAIIx	Phase_I	197	62	NM_001707	0	0	0	0	0	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	ENST00000223368.2	37	CCDS5550.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669119	0.67814	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.56941	0.43	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.69358	2.11	0.58432	D	0.999997	P;D	0.76494	0.94;0.999	P;D	0.79784	0.564;0.993	T	0.73541	-0.3950	10	0.87932	D	0	.	17.3513	0.87324	0.0:1.0:0.0:0.0	.	99;156	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	Y	156;99	ENSP00000223368:D156Y	ENSP00000223368:D156Y	D	-	1	0	BCL7B	72590250	1.000000	0.71417	0.997000	0.53966	0.358000	0.29455	6.985000	0.76193	2.704000	0.92352	0.555000	0.69702	GAT	.		0.532	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707		A	72952314	C	A	72952314	3	1	41	1	0	0	0	0	1	0	0	0	1380	826	29	3	150	3	BCL7B	7	72952314	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		72952314	86186349	21	9144											
MKLN1	4289	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	131084167	131084167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattttgatgcttgcgaAgagttgattgaaaaggctgt	14	3	0	5			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr7:131084167A>G	ENST00000352689.6	+	6	718	c.678A>G	c.(676-678)gaA>gaG	p.E226E	MKLN1_ENST00000421797.2_Silent_p.E134E	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	226	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGCTTGCGAAGAGTTGATTG	0.358																																					p.E226E		.											.	MKLN1-135	0			c.A678G						.						181	178	179					7																	131084167		2203	4300	6503	SO:0001819	synonymous_variant	4289	exon6			TTGCGAAGAGTTG	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.678A>G	7.37:g.131084167A>G		Somatic	140	2		WXS	Illumina GAIIx	Phase_I	154	47	NM_013255	0	0	0	0	0	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	CCDS34754.1																																																																																			.		0.358	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		G	131084167	A	G	131084167	2	3	41	1	0	0	0	0	0	0	0	1	9641	69	3	4		4	MKLN1	7	131084167	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	58131853	131084167	28054496	22	9145											
CPNE3	8895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	87560662	87560662	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattcaagattatgatgCgtgagtatgactttggaaaa	11	4	2	4			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr8:87560662C>T	ENST00000521271.1	+	12	1175	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	CPNE3_ENST00000198765.4_Splice_Site_p.A338V	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	338	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GATTATGATGCGTGAGTATGA	0.433																																					p.A338V		.											.	CPNE3-117	0			c.C1013T						.						168	141	150					8																	87560662		2203	4300	6503	SO:0001630	splice_region_variant	8895	exon12			ATGATGCGTGAGT	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1013+1C>T	8.37:g.87560662C>T		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	117	28	NM_003909	0	0	0	0	0	A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802264	0.70682	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.22539	1.95;1.95	5.32	4.39	0.52855	von Willebrand factor, type A (1);Copine (1);	0.370928	0.32488	N	0.006036	T	0.17746	0.0426	L	0.33245	0.995	0.80722	D	1	P	0.40250	0.709	B	0.37239	0.244	T	0.04400	-1.0954	10	0.87932	D	0	-21.3127	14.7563	0.69567	0.1451:0.8549:0.0:0.0	.	338	O75131	CPNE3_HUMAN	V	338	ENSP00000198765:A338V;ENSP00000430934:A338V	ENSP00000198765:A338V	A	+	2	0	CPNE3	87629778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.029000	0.57253	2.506000	0.84524	0.563000	0.77884	GCT	.		0.433	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1		Missense_Mutation	T	87560662	C	T	87560662	5	4	41	1	0	0	0	0	0	0	1	0	3820	782	27	1	1051	1	CPNE3	8	87560662	Splice_Site	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		87560662	58803360	23	9146											
ESRP1	54845	hgsc.bcm.edu;bcgsc.ca	37	chr8	95690599	95690599	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacacagcgtactatcccaGgtaaggctctgacagaggtg	11	10	1	2			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr8:95690599G>T	ENST00000433389.2	+	13	2010	c.1820G>T	c.(1819-1821)aGc>aTc	p.S607I	ESRP1_ENST00000423620.2_Splice_Site_p.S603I|ESRP1_ENST00000454170.2_Splice_Site_p.S607I|ESRP1_ENST00000358397.5_Splice_Site_p.S603I	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	607					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						TACTATCCCAGGTAAGGCTCT	0.498																																					p.S607I		.											.	ESRP1-94	0			c.G1820T						.						68	66	66					8																	95690599		2036	4199	6235	SO:0001630	splice_region_variant	54845	exon13			ATCCCAGGTAAGG	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.1820+1G>T	8.37:g.95690599G>T		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	62	4	NM_017697	0	0	0	0	0	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899318|4.899318	0.91962|0.91962	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.16073	.|2.69;2.68;2.67;2.37;2.46	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.073025	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.65815	.|0.995;0.995;0.992;0.995;0.992	.|D;D;D;D;P	.|0.66979	.|0.945;0.948;0.917;0.945;0.883	T|T	0.15150|0.15150	-1.0447|-1.0447	5|10	.|0.51188	.|T	.|0.08	-11.1506|-11.1506	18.9933|18.9933	0.92803|0.92803	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|607;607;603;603;607	.|Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;ESRP1_HUMAN	H|I	472|603;607;603;607;466	.|ENSP00000407349:S603I;ENSP00000405738:S607I;ENSP00000351168:S603I;ENSP00000402766:S607I;ENSP00000429125:S466I	.|ENSP00000351168:S603I	Q|S	+|+	3|2	2|0	ESRP1|ESRP1	95759775|95759775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.675000|9.675000	0.98638|0.98638	2.549000|2.549000	0.85964|0.85964	0.591000|0.591000	0.81541|0.81541	CAG|AGC;AGC;AGC;AGT;AGC	.		0.498	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	Missense_Mutation	T	95690599	G	T	95690599	5	4	41	1	0	0	0	0	0	0	1	0	5274	1014	35	3	1870	3	ESRP1	8	95690599	Splice_Site	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	8129937	95690599	50673423	24	9147											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	22	8	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	41	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	48688269	144378868	1985154	25	9148											
C8orf73	642475	hgsc.bcm.edu	37	chr8	144649601	144649601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcgctgccgcggccacAgccggcttggggtcgctctg	16	15	1	0	rs13268196	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr8:144649601A>G	ENST00000398882.3	-	14	2224	c.1968T>C	c.(1966-1968)gcT>gcC	p.A656A	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	656																	CCGCGGCCACAGCCGGCTTGG	0.776													G|||	4732	0.944888	0.8018	0.9827	5008	,	,		8608	1		0.998	False		,,,				2504	1				p.A656A		.											.	.	0			c.T1968C						.						1	2	2					8																	144649601		1007	2126	3133	SO:0001819	synonymous_variant	642475	exon14			GGCCACAGCCGGC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1968T>C	8.37:g.144649601A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001100878	0	0	0	0	0	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			A|0.057;G|0.943		0.776	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		G	144649601	A	G	144649601	2	3	41	1	0	0	0	0	0	0	0	1	2442	175	7	4		4	C8orf73	8	144649601	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	270733	144649601	1714421	26	9149											
SHARPIN	81858	hgsc.bcm.edu	37	chr8	145158503	145158503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccggaagcgcccaggccGctcagggtccgcgctcagct	14	17	2	0	rs11136254	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr8:145158503G>T	ENST00000398712.2	-	1	590	c.154C>A	c.(154-156)Cgg>Agg	p.R52R	MAF1_ENST00000322428.5_5'Flank|MAF1_ENST00000534585.1_5'Flank|SHARPIN_ENST00000533948.1_Intron|MAF1_ENST00000532522.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	52	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCAGGCCGCTCAGGGTCC	0.771													G|||	4431	0.884784	0.6884	0.9366	5008	,	,		10154	0.999		0.9115	False		,,,				2504	0.9683				p.R52R		.											.	SHARPIN-523	0			c.C154A						.	G		1990,374		815,360,7	2	2	2		154	2.7	0.6	8	dbSNP_120	2	5503,323		2593,317,3	no	coding-synonymous	SHARPIN	NM_030974.3		3408,677,10	TT,TG,GG		5.5441,15.8206,8.5104		52/388	145158503	7493,697	1182	2913	4095	SO:0001819	synonymous_variant	81858	exon1			CAGGCCGCTCAGG	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.154C>A	8.37:g.145158503G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_030974	0	0	0	0	0	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	CCDS43777.1																																																																																			G|0.108;T|0.892		0.771	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		T	145158503	G	T	145158503	2	4	41	1	0	0	0	0	0	0	0	1	14312	1086	38	2		2	SHARPIN	8	145158503	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	508902	145158503	1205519	27	9150											
C9orf79	286234	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	90500470	90500470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtaggtggctgcacattCatccaccctgacgtgcagaa	12	11	1	2	rs62578207		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr9:90500470C>A	ENST00000325643.5	+	4	1134	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	356					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTGCACATTCATCCACCCTG	0.582																																					p.F356L		.											.	.	0			c.C1068A						.						65	65	65					9																	90500470		2203	4300	6503	SO:0001583	missense	286234	exon4			CACATTCATCCAC	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.1068C>A	9.37:g.90500470C>A	ENSP00000322640:p.Phe356Leu	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	82	29	NM_178828	0	0	0	0	0	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	7.814	0.716346	0.15306	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.04454	3.62	2.32	-2.7	0.06004	.	0.329814	0.22929	N	0.053925	T	0.04907	0.0132	L	0.34521	1.04	0.09310	N	1	D;P	0.52996	0.957;0.873	P;B	0.52758	0.708;0.388	T	0.33317	-0.9873	10	0.25751	T	0.34	.	3.5459	0.07828	0.0:0.2948:0.2115:0.4937	.	356;8	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	356;8	ENSP00000322640:F356L	ENSP00000322640:F356L	F	+	3	2	C9orf79	89690290	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.219000	0.17641	-0.714000	0.04975	-0.145000	0.13849	TTC	.		0.582	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90500470	C	A	90500470	3	1	41	1	0	0	0	0	1	0	0	0	2504	825	29	3	1082	3	C9orf79	9	90500470	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		90500470	50712961	28	9151											
PBX3	5090	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	128724400	128724400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttctggttcttttaaCctcccaaattctggggacat	8	10	4	0			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr9:128724400C>T	ENST00000373489.5	+	7	1045	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PBX3_ENST00000373483.2_Silent_p.N162N|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373487.4_Silent_p.N364N|PBX3_ENST00000447726.2_Silent_p.N268N|PBX3_ENST00000538998.1_Intron	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	343					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GTTCTTTTAACCTCCCAAATT	0.458																																					p.N343N		.											.	PBX3-91	0			c.C1029T						.						102	88	93					9																	128724400		2203	4300	6503	SO:0001819	synonymous_variant	5090	exon7			TTTTAACCTCCCA		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1029C>T	9.37:g.128724400C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	63	11	NM_006195	0	0	0	0	0	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	CCDS6865.1																																																																																			.		0.458	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			T	128724400	C	T	128724400	2	4	41	1	0	0	0	0	0	0	0	1	11533	506	18	3		3	PBX3	9	128724400	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	38223930	128724400	12489031	29	9152											
DNAJC12	56521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	69571291	69571291	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacccaccgtcttcacTgagtcattcaaagcttccca	6	14	4	2			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr10:69571291T>G	ENST00000225171.2	-	3	440	c.288A>C	c.(286-288)tcA>tcC	p.S96S	DNAJC12_ENST00000483798.2_Silent_p.S126S|RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000339758.7_Silent_p.S96S	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	96										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CCGTCTTCACTGAGTCATTCA	0.507																																					p.S96S		.											.	DNAJC12-658	0			c.A288C						.						190	151	164					10																	69571291		2203	4300	6503	SO:0001819	synonymous_variant	56521	exon3			CTTCACTGAGTCA	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.288A>C	10.37:g.69571291T>G		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	149	49	NM_021800	0	0	0	0	0	Q5JVQ1|Q9UKB2	Silent	SNP	ENST00000225171.2	37	CCDS7271.1																																																																																			.		0.507	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		G	69571291	T	G	69571291	2	3	41	1	0	0	0	0	0	0	0	1	4645	1567	55	5		5	DNAJC12	10	69571291	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		69571291	65963456	30	9153											
TDRD1	56165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	115982440	115982440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagaccaagaattggagaCgcatgctgtgccaaatacac	9	9	0	3			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr10:115982440C>T	ENST00000369280.1	+	21	3445	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TDRD1_ENST00000369282.1_Silent_p.D995D|TDRD1_ENST00000422662.1_Silent_p.D599D|TDRD1_ENST00000251864.2_Silent_p.D995D|TDRD1_ENST00000369281.2_Silent_p.D881D			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	995	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAATTGGAGACGCATGCTGTG	0.373																																					p.D995D		.											.	TDRD1-90	0			c.C2985T						.						89	89	89					10																	115982440		2203	4300	6503	SO:0001819	synonymous_variant	56165	exon21			TGGAGACGCATGC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2985C>T	10.37:g.115982440C>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	47	6	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37																																																																																				.		0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115982440	C	T	115982440	2	4	41	1	0	0	0	0	0	0	0	1	15777	535	19	1		1	TDRD1	10	115982440	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	46411149	115982440	19552307	31	9154											
CTBP2	1488	hgsc.bcm.edu	37	chr10	126715159	126715160	+	Intron	INS	-	-	GCCGCAGGCTGGGGCTGCAGG													gggatgctgtctgcagaggaINSgccgcagcgcccagagaagc					rs529129641|rs372118432	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr10:126715159_126715160insGCCGCAGGCTGGGGCTGCAGG	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_In_Frame_Ins_p.390_390A>ALQPQPAA|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCTGCAGAGGAGCCGCAGCGCC	0.698														537	0.107228	0.1006	0.2478	5008	,	,		14420	0.0417		0.1093	False		,,,				2504	0.0818				p.A390delinsALQPQPAA		.											.	CTBP2-90	0			c.1170_1171insCCTGCAGCCCCAGCCTGCGGC						.		,,	295,3727		33,229,1749					,,	-1.1	0			8	694,7122		93,508,3307	no	coding,intron,intron	CTBP2	NM_022802.2,NM_001329.2,NM_001083914.1	,,	126,737,5056	A1A1,A1R,RR		8.8792,7.3347,8.3545	,,	,,		989,10849				SO:0001627	intron_variant	1488	exon1			CAGAGGAGCCGCA	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12405->CCTGCAGCCCCAGCCTGCGGC	10.37:g.126715159_126715160insGCCGCAGGCTGGGGCTGCAGG		Somatic	51	2		WXS	Illumina GAIIx	Phase_I	55	6	NM_022802	0	0	0	0	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	In_Frame_Ins	INS	ENST00000337195.5	37	CCDS7643.1																																																																																			.		0.698	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		GCCGCAGGCTGGGGCTGCAGG	126715160	-	GCCGCAGGCTGGGGCTGCAGG	126715159	6	5	41	0	1	1	1	0	0	0	0	0	4007	291	11	0		0	CTBP2	10	126715159	Intron	INS	-	TCGA-OR-A5L1-01A-11D-A30A-10	10732719	126715159	8819588	32	9155											
USH1C	10083	broad.mit.edu	37	chr11	17542909	17542909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgttccatctccttccGgtatctctcattttcctctg	4	15	5	0	rs140934960		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr11:17542909G>A	ENST00000318024.4	-	13	1177	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	USH1C_ENST00000005226.7_Missense_Mutation_p.R357W|USH1C_ENST00000527720.1_Missense_Mutation_p.R326W|USH1C_ENST00000527020.1_Missense_Mutation_p.R338W	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	357					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATCTCCTTCCGGTATCTCTCA	0.502													G|||	1	0.000199681	0	0	5008	,	,		19566	0		0	False		,,,				2504	0.001				p.R357W		.											.	USH1C-91	0			c.C1069T						.						325	264	285					11																	17542909		2200	4293	6493	SO:0001583	missense	10083	exon13			CCTTCCGGTATCT	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1069C>T	11.37:g.17542909G>A	ENSP00000317018:p.Arg357Trp	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	125	4	NM_005709	0	0	0	0	0	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285423	0.80803	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.39997	1.42;1.47;1.68;1.05	5.72	5.72	0.89469	.	0.117280	0.56097	D	0.000033	T	0.55955	0.1953	L	0.36672	1.1	0.46823	D	0.999213	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.72338	0.932;0.893;0.977	T	0.49771	-0.8904	10	0.38643	T	0.18	.	18.651	0.91430	0.0:0.0:1.0:0.0	.	338;357;357	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	W	357;326;338;357	ENSP00000317018:R357W;ENSP00000432944:R326W;ENSP00000436934:R338W;ENSP00000005226:R357W	ENSP00000005226:R357W	R	-	1	2	USH1C	17499485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.551000	0.53698	2.703000	0.92315	0.650000	0.86243	CGG	G|1.000;A|0.000		0.502	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		A	17542909	G	A	17542909	3	1	41	1	0	0	0	0	1	0	0	0	17083	1115	39	1	1768	1	USH1C	11	17542909	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		17542909	117463607	33	9156											
TCP11L1	55346	bcgsc.ca	37	chr11	33065394	33065394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgattctgaggaaggcctCgaagatgctgtggaaggtgc	15	6	1	3	rs1064005	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr11:33065394C>T	ENST00000334274.4	+	2	475	c.75C>T	c.(73-75)ctC>ctT	p.L25L	TCP11L1_ENST00000432887.1_Silent_p.L25L|TCP11L1_ENST00000531632.2_Silent_p.L25L|TCP11L1_ENST00000530171.1_3'UTR	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	25						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						AGGAAGGCCTCGAAGATGCTG	0.408													C|||	1991	0.397564	0.4576	0.4467	5008	,	,		19560	0.4226		0.3986	False		,,,				2504	0.2546				p.L25L		.											.	TCP11L1-90	0			c.C75T						.	C	,	1991,2413	558.9+/-380.1	435,1121,646	199	205	203		75,75	-2	1	11	dbSNP_86	203	3417,5179	505.6+/-376.4	691,2035,1572	yes	coding-synonymous,coding-synonymous	TCP11L1	NM_001145541.1,NM_018393.3	,	1126,3156,2218	TT,TC,CC		39.751,45.2089,41.6	,	25/510,25/510	33065394	5408,7592	2202	4298	6500	SO:0001819	synonymous_variant	55346	exon2			AGGCCTCGAAGAT	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.75C>T	11.37:g.33065394C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	76	5	NM_001145541	0	0	0	0	0	D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	CCDS7882.1																																																																																			C|0.583;T|0.417		0.408	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		T	33065394	C	T	33065394	2	4	41	1	0	0	0	0	0	0	0	1	15761	871	31	1		1	TCP11L1	11	33065394	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	15522485	33065394	101941122	34	9157											
LRP5	4041	bcgsc.ca	37	chr11	68174122	68174122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacctgcatcgtgcctgaGgccttcttggtcttcaccag	10	13	3	2	rs2277268	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr11:68174122G>A	ENST00000294304.7	+	9	2038	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	644	Beta-propeller 3.				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						TCGTGCCTGAGGCCTTCTTGG	0.622													G|||	280	0.0559105	0.0651	0.0504	5008	,	,		19192	0.0575		0.0716	False		,,,				2504	0.0297				p.E644E		.											.	LRP5-661	0			c.G1932A						.	G		307,4093	166.2+/-197.5	6,295,1899	77	62	67		1932	1.2	1	11	dbSNP_100	67	596,7992	158.2+/-211.7	24,548,3722	no	coding-synonymous	LRP5	NM_002335.2		30,843,5621	AA,AG,GG		6.9399,6.9773,6.9526		644/1616	68174122	903,12085	2200	4294	6494	SO:0001819	synonymous_variant	4041	exon9			GCCTGAGGCCTTC	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.1932G>A	11.37:g.68174122G>A		Somatic	139	2		WXS	Illumina GAIIx	Phase_I	97	5	NM_002335	0	0	0	0	0	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																			G|0.935;A|0.065		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68174122	G	A	68174122	2	1	41	1	0	0	0	0	0	0	0	1	8995	991	35	3		3	LRP5	11	68174122	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	35108728	68174122	66832394	35	9158											
KCNA6	3742	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	4919736	4919736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccggccaggggcatcGccatcgtctccgtgttggtc	15	14	1	0			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr12:4919736G>A	ENST00000280684.3	+	1	1395	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.A177T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	177					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CAGGGGCATCGCCATCGTCTC	0.597										HNSCC(72;0.22)																											p.A177T		.											.	KCNA6-93	0			c.G529A						.						61	55	57					12																	4919736		2203	4300	6503	SO:0001583	missense	3742	exon1			GGCATCGCCATCG	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.529G>A	12.37:g.4919736G>A	ENSP00000280684:p.Ala177Thr	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	244	50	NM_002235	0	0	0	0	0		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376688	0.82682	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.70869	-0.52;-0.52	4.99	4.99	0.66335	.	0.108809	0.64402	N	0.000008	T	0.80691	0.4671	M	0.65975	2.015	0.80722	D	1	D	0.61697	0.99	P	0.58391	0.838	T	0.83097	-0.0130	10	0.87932	D	0	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	177	P17658	KCNA6_HUMAN	T	177	ENSP00000408321:A177T;ENSP00000280684:A177T	ENSP00000280684:A177T	A	+	1	0	KCNA6	4789997	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.650000	0.98490	2.595000	0.87683	0.563000	0.77884	GCC	.		0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4919736	G	A	4919736	3	1	41	1	0	0	0	0	1	0	0	0	8034	1087	38	1	531	1	KCNA6	12	4919736	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		4919736	128932159	36	9159											
GTSF1	121355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54857074	54857074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatttgcttgcaacatcaGgatgattctgtggaaccaaa	8	9	2	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr12:54857074G>T	ENST00000552397.1	-	4	1021	c.125C>A	c.(124-126)cCt>cAt	p.P42H	RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Missense_Mutation_p.P42H|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	42						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TGCAACATCAGGATGATTCTG	0.438																																					p.P42H		.											.	GTSF1-90	0			c.C125A						.						122	111	115					12																	54857074		2203	4300	6503	SO:0001583	missense	121355	exon4			ACATCAGGATGAT	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.125C>A	12.37:g.54857074G>T	ENSP00000446485:p.Pro42His	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	165	86	NM_144594	0	0	0	0	0	B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	ENST00000552397.1	37	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287314	0.59867	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.51325	0.71;0.71	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.80616	2.505	0.40484	D	0.980474	D	0.71674	0.998	D	0.63877	0.919	T	0.71104	-0.4689	10	0.72032	D	0.01	-11.1963	9.9855	0.41839	0.0:0.1506:0.6932:0.1562	.	42	Q8WW33	GTSF1_HUMAN	H	42	ENSP00000446485:P42H;ENSP00000304185:P42H	ENSP00000304185:P42H	P	-	2	0	GTSF1	53143341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.312000	0.72840	1.521000	0.48983	0.655000	0.94253	CCT	.		0.438	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		T	54857074	G	T	54857074	3	4	41	1	0	0	0	0	1	0	0	0	6913	1000	35	3	398	3	GTSF1	12	54857074	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	49937338	54857074	78994821	37	9160											
F7	2155	bcgsc.ca	37	chr13	113770068	113770068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgctcctgtcggtgccaCgaggggtactctctgctggc	14	13	1	0	rs6042	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr13:113770068C>T	ENST00000375581.3	+	6	560	c.525C>T	c.(523-525)caC>caT	p.H175H	F7_ENST00000346342.3_Silent_p.H153H|F7_ENST00000541084.1_Silent_p.H106H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	175	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GTCGGTGCCACGAGGGGTACT	0.617													C|||	729	0.145567	0.1346	0.1282	5008	,	,		19696	0.0446		0.1213	False		,,,				2504	0.3016				p.H175H		.											.	F7-90	0			c.C525T						.	C	,	590,3816	257.0+/-261.6	43,504,1656	64	54	57		525,459	-3.2	0.4	13	dbSNP_52	57	1008,7592	215.7+/-255.0	62,884,3354	no	coding-synonymous,coding-synonymous	F7	NM_000131.3,NM_019616.2	,	105,1388,5010	TT,TC,CC		11.7209,13.3908,12.2866	,	175/467,153/445	113770068	1598,11408	2203	4300	6503	SO:0001819	synonymous_variant	2155	exon6			GTGCCACGAGGGG		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.525C>T	13.37:g.113770068C>T		Somatic	185	1		WXS	Illumina GAIIx	Phase_I	92	5	NM_000131	0	0	0	0	0	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	CCDS9528.1																																																																																			C|0.876;T|0.124		0.617	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		T	113770068	C	T	113770068	2	4	41	1	0	0	0	0	0	0	0	1	5365	535	19	1		1	F7	13	113770068	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		113770068	1399810	38	9161											
OR11H12	440153	bcgsc.ca	37	chr14	19378496	19378496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaccccactcttcaaTccccttatctatagcctcca	4	16	3	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr14:19378496T>C	ENST00000550708.1	+	1	975	c.903T>C	c.(901-903)aaT>aaC	p.N301N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTCTTCAATCCCCTTATCT	0.433																																					p.N301N		.											.	OR11H12-24	0			c.T903C						.						7	7	7					14																	19378496		1103	2704	3807	SO:0001819	synonymous_variant	440153	exon1			CTTCAATCCCCTT		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.903T>C	14.37:g.19378496T>C		Somatic	419	3		WXS	Illumina GAIIx	Phase_I	392	61	NM_001013354	0	0	0	0	0		Silent	SNP	ENST00000550708.1	37	CCDS32017.1																																																																																			.		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		C	19378496	T	C	19378496	2	2	41	1	0	0	0	0	0	0	0	1	10966	1432	50	4		4	OR11H12	14	19378496	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		19378496	87971044	39	9162											
KIF26A	26153	bcgsc.ca	37	chr14	104643409	104643409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagcaaggtagaagcAgcacaccgtcttgccggaca	13	13	1	1	rs2487303	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr14:104643409A>G	ENST00000423312.2	+	12	4284	c.4284A>G	c.(4282-4284)gcA>gcG	p.A1428A	KIF26A_ENST00000315264.7_Silent_p.A1289A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1428					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGTAGAAGCAGCACACCGTC	0.706													G|||	3872	0.773163	0.826	0.7176	5008	,	,		14740	0.7827		0.7048	False		,,,				2504	0.8016				p.A1428A		.											.	KIF26A-24	0			c.A4284G						.	G		3386,734		1393,600,67	11	16	14		4284	-7.2	0	14	dbSNP_100	14	6044,2232		2231,1582,325	no	coding-synonymous	KIF26A	NM_015656.1		3624,2182,392	GG,GA,AA		26.9696,17.8155,23.9271		1428/1883	104643409	9430,2966	2060	4138	6198	SO:0001819	synonymous_variant	26153	exon12			AGAAGCAGCACAC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4284A>G	14.37:g.104643409A>G		Somatic	8	1		WXS	Illumina GAIIx	Phase_I	14	14	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			A|0.242;G|0.758		0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			G	104643409	A	G	104643409	2	3	41	1	0	0	0	0	0	0	0	1	8321	175	7	4		4	KIF26A	14	104643409	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	85264913	104643409	2706131	40	9163			1	43		2	2	13	N	T_A	2.829716e-05
KIF26A	26153	bcgsc.ca	37	chr14	104643421	104643421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagcagcacaccgtctTgccggacacgcgtctctgga	12	13	2	1	rs2487302	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr14:104643421T>C	ENST00000423312.2	+	12	4296	c.4296T>C	c.(4294-4296)ctT>ctC	p.L1432L	KIF26A_ENST00000315264.7_Silent_p.L1293L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1432					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACACCGTCTTGCCGGACACG	0.701													T|||	2325	0.464257	0.5915	0.3559	5008	,	,		14530	0.4018		0.3767	False		,,,				2504	0.5235				p.L1432L		.											.	KIF26A-24	0			c.T4296C						.	T		2200,1944		632,936,504	12	16	15		4296	-8.2	0	14	dbSNP_100	15	3127,5165		644,1839,1663	no	coding-synonymous	KIF26A	NM_015656.1		1276,2775,2167	CC,CT,TT		37.711,46.9112,42.8353		1432/1883	104643421	5327,7109	2072	4146	6218	SO:0001819	synonymous_variant	26153	exon12			CCGTCTTGCCGGA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4296T>C	14.37:g.104643421T>C		Somatic	8	1		WXS	Illumina GAIIx	Phase_I	13	13	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.569;C|0.431		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104643421	T	C	104643421	2	2	41	1	0	0	0	0	0	0	0	1	8321	1799	63	4		4	KIF26A	14	104643421	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	12	104643421	2706119	41	9164			1	43		2	2	13	N	T_A	2.829716e-05
DNAJA4	55466	bcgsc.ca	37	chr15	78567960	78567960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtctttcagagacgagGccatgacttgatcatgaaaa	10	7	3	4			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr15:78567960G>T	ENST00000394852.3	+	5	957	c.767G>T	c.(766-768)gGc>gTc	p.G256V	DNAJA4_ENST00000343789.3_Missense_Mutation_p.G256V|DNAJA4_ENST00000446172.2_Missense_Mutation_p.G229V|DNAJA4_ENST00000394855.3_Missense_Mutation_p.G285V	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	256					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGAGACGAGGCCATGACTTG	0.398																																					p.G285V		.											.	DNAJA4-226	0			c.G854T						.						142	125	131					15																	78567960		2196	4293	6489	SO:0001583	missense	55466	exon6			GACGAGGCCATGA	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.767G>T	15.37:g.78567960G>T	ENSP00000378321:p.Gly256Val	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	136	5	NM_018602	0	0	0	0	0	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831835	0.71258	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.63	5.63	0.86233	HSP40/DnaJ peptide-binding (1);	0.250874	0.47093	D	0.000259	D	0.82282	0.5003	H	0.99764	4.76	0.80722	D	1	D;D;P	0.52996	0.957;0.957;0.949	P;P;P	0.59643	0.771;0.771;0.861	D	0.88546	0.3113	10	0.72032	D	0.01	-21.7567	12.0541	0.53524	0.0776:0.0:0.9224:0.0	.	229;256;285	E9PDM9;Q8WW22;Q8WW22-2	.;DNJA4_HUMAN;.	V	285;256;256;229	ENSP00000378324:G285V;ENSP00000339581:G256V;ENSP00000378321:G256V;ENSP00000413499:G229V	ENSP00000339581:G256V	G	+	2	0	DNAJA4	76355015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.076000	0.64413	2.652000	0.90054	0.655000	0.94253	GGC	.		0.398	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		T	78567960	G	T	78567960	3	4	41	1	0	0	0	0	1	0	0	0	4628	1203	42	3	931	3	DNAJA4	15	78567960	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		78567960	23963432	42	9165											
MSLNL	401827	bcgsc.ca	37	chr16	820944	820944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggcaggaggagaggTccagggccccggccagcctg	19	12	1	1	rs12599363	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr16:820944T>A	ENST00000442466.1	-	12	1387	c.1388A>T	c.(1387-1389)gAc>gTc	p.D463V	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.D814V			Q96KJ4	MSLNL_HUMAN	mesothelin-like	463			D -> V (in dbSNP:rs12599363).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGAGGAGAGGTCCAGGGCCCC	0.687													.|||	1269	0.253395	0.3714	0.2464	5008	,	,		10844	0.2659		0.175	False		,,,				2504	0.1667				.		.											.	.	0			.						.	T	VAL/ASP	1160,2746		190,780,983	11	17	15		2441	4.8	1	16	dbSNP_120	15	1645,6627		176,1293,2667	yes	missense	MSLNL	NM_001025190.1	152	366,2073,3650	AA,AT,TT		19.8864,29.6979,23.0333	probably-damaging	814/1054	820944	2805,9373	1953	4136	6089	SO:0001583	missense	724032	.			GAGAGGTCCAGGG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1388A>T	16.37:g.820944T>A	ENSP00000415767:p.Asp463Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	154	6	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000442466.1	37		539	0.2467948717948718	180	0.36585365853658536	73	0.20165745856353592	149	0.26048951048951047	137	0.18073878627968337	T	16.77	3.214605	0.58452	0.296979	0.198864	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19806	2.12;2.12;2.12	4.84	4.84	0.62591	.	0.222920	0.36268	N	0.002689	T	0.00012	0.0000	.	.	.	0.18873	P	0.9999890728	D	0.65815	0.995	P	0.61070	0.883	T	0.41893	-0.9483	8	0.56958	D	0.05	-51.1191	12.0765	0.53647	0.0:0.0:0.0:1.0	rs12599363	463	Q96KJ4	MSLNL_HUMAN	V	513;463;814	ENSP00000441381:D513V;ENSP00000415767:D463V;ENSP00000293892:D814V	ENSP00000293892:D814V	D	-	2	0	MSLNL	760945	0.827000	0.29292	0.985000	0.45067	0.515000	0.34225	2.506000	0.45433	1.930000	0.55929	0.459000	0.35465	GAC	T|0.765;A|0.235		0.687	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		A	820944	T	A	820944	3	1	41	1	0	0	0	0	1	0	0	0	9920	1667	58	5	736	5	MSLNL	16	820944	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		820944	89533809	43	9166											
MRPS34	65993	hgsc.bcm.edu	37	chr16	1822947	1822947	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagaggcggctctcgcggcgCacgtcggcccaggcccggac	16	16	1	1	rs1076695	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr16:1822947C>G	ENST00000397375.2	-	1	209	c.174G>C	c.(172-174)gtG>gtC	p.V58V	NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000568449.1_5'Flank|EME2_ENST00000307394.7_5'Flank|MRPS34_ENST00000177742.3_Silent_p.V58V	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	58						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						TCTCGCGGCGCACGTCGGCCC	0.726													C|||	251	0.0501198	0.0061	0.0965	5008	,	,		10499	0.002		0.1421	False		,,,				2504	0.0317				p.V58V		.											.	MRPS34-92	0			c.G174C						.	C		25,2311		0,25,1143	1	2	2		174	1.7	1	16	dbSNP_86	2	405,4871		9,387,2242	no	coding-synonymous	MRPS34	NM_023936.1		9,412,3385	GG,GC,CC		7.6763,1.0702,5.649		58/219	1822947	430,7182	1168	2638	3806	SO:0001819	synonymous_variant	65993	exon1			GCGGCGCACGTCG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.174G>C	16.37:g.1822947C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_023936	0	0	0	0	0	Q9BVI7	Silent	SNP	ENST00000397375.2	37	CCDS10444.1																																																																																			C|0.923;G|0.077		0.726	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936		G	1822947	C	G	1822947	2	3	41	1	0	0	0	0	0	0	0	1	9881	697	25	3		3	MRPS34	16	1822947	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	1002003	1822947	88531806	44	9167											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	41	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	497	1823444	88531309	45	9168											
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305769	39305769	+	Missense_Mutation	SNP	G	G	C													agcaggtggtcctgcagcagGtggtctggcagcagcagggg					rs151111061		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:39305769G>C	ENST00000343246.4	-	1	285	c.251C>G	c.(250-252)aCc>aGc	p.T84S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	84	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cctgcagcaggtggtctggca	0.657																																					p.T84S		.											.	KRTAP4-5-90	0			c.C251G						.						15	22	20					17																	39305769		2110	4225	6335	SO:0001583	missense	85289	exon1			CAGCAGGTGGTCT	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.251C>G	17.37:g.39305769G>C	ENSP00000340546:p.Thr84Ser	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	78	24	NM_033188	0	0	0	0	0		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	0.045	-1.270621	0.01421	.	.	ENSG00000198271	ENST00000343246	T	0.00529	6.78	2.87	-5.75	0.02384	.	.	.	.	.	T	0.00241	0.0007	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	9	0.02654	T	1	.	13.221	0.59887	0.1138:0.1674:0.7188:0.0	.	89	Q9BYR2	KRA45_HUMAN	S	84	ENSP00000340546:T84S	ENSP00000340546:T84S	T	-	2	0	KRTAP4-5	36559295	0.000000	0.05858	0.095000	0.20976	0.019000	0.09904	-1.804000	0.01738	-1.404000	0.02050	-1.446000	0.01064	ACC	.		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			C	39305769	G	C	39305769	3	2	41	1	0	0	0	0	1	0	0	0	8582	1261	44	3	298	3	KRTAP4-5	17	39305769	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		39305769	41889441	46	9169	85	2									
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305774	39305774	+	Missense_Mutation	SNP	C	C	G													gtggtcctgcagcaggtggtCtggcagcagcaggggcggca					rs137947981		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:39305774C>G	ENST00000343246.4	-	1	280	c.246G>C	c.(244-246)caG>caC	p.Q82H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagc	0.652																																					p.Q82H		.											.	KRTAP4-5-90	1	Substitution - Missense(1)	lung(1)	c.G246C						.						14	21	19					17																	39305774		2102	4215	6317	SO:0001583	missense	85289	exon1			GGTGGTCTGGCAG	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.246G>C	17.37:g.39305774C>G	ENSP00000340546:p.Gln82His	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	79	24	NM_033188	0	0	0	0	0		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	6.243	0.412973	0.11812	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	2.03	-0.354	0.12591	.	.	.	.	.	T	0.01320	0.0043	M	0.79693	2.465	0.09310	N	1	B	0.21147	0.052	B	0.35182	0.197	T	0.25950	-1.0117	9	0.45353	T	0.12	.	12.081	0.53671	0.0:0.7361:0.2639:0.0	.	87	Q9BYR2	KRA45_HUMAN	H	82	ENSP00000340546:Q82H	ENSP00000340546:Q82H	Q	-	3	2	KRTAP4-5	36559300	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-3.389000	0.00488	-0.371000	0.08004	-1.872000	0.00552	CAG	.		0.652	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			G	39305774	C	G	39305774	3	3	41	1	0	0	0	0	1	0	0	0	8582	912	32	3	303	3	KRTAP4-5	17	39305774	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	5	39305774	41889436	47	9170	85	2									
ASB16	92591	hgsc.bcm.edu	37	chr17	42254281	42254281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagactgcgctgaacAcggcgtgcgctggggccgag	19	11	0	2	rs7212573	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:42254281A>G	ENST00000293414.1	+	3	829	c.745A>G	c.(745-747)Acg>Gcg	p.T249A	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	249				T -> A (in Ref. 1; BAB70800/BAG37167, 3; AAH75088 and 4; AAL57353). {ECO:0000305}.	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)		TGCGCTGAACACGGCGTGCGC	0.756													G|||	2594	0.517971	0.702	0.4424	5008	,	,		11135	0.752		0.2932	False		,,,				2504	0.3129				p.T249A		.											.	ASB16-227	0			c.A745G						.	G	ALA/THR,ARG/CYS	2530,1736		801,928,404	7	8	7		745,340	3.1	0.7	17	dbSNP_116	7	2387,5811		422,1543,2134	no	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	1223,2471,2538	GG,GA,AA		29.1169,40.6939,39.4496	benign,benign	249/454,114/194	42254281	4917,7547	2133	4099	6232	SO:0001583	missense	92591	exon3			CTGAACACGGCGT	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.745A>G	17.37:g.42254281A>G	ENSP00000293414:p.Thr249Ala	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_080863	0	0	0	0	0	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	1144|1144	0.5238095238095238|0.5238095238095238	349|349	0.709349593495935|0.709349593495935	142|142	0.39226519337016574|0.39226519337016574	420|420	0.7342657342657343|0.7342657342657343	233|233	0.3073878627968338|0.3073878627968338	G|G	5.919|5.919	0.353578|0.353578	0.11182|0.11182	0.593061|0.593061	0.291169|0.291169	ENSG00000168597|ENSG00000161664	ENST00000303061|ENST00000293414	.|T	.|0.51817	.|0.69	5.22|5.22	3.08|3.08	0.35506|0.35506	.|Ankyrin repeat-containing domain (4);	.|0.157781	.|0.56097	.|N	.|0.000038	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04148|0.04148	-0.265|-0.265	0.58432|0.58432	P|P	8.000000000008E-6|8.000000000008E-6	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41502|0.41502	-0.9505|-0.9505	7|9	0.87932|0.05833	D|T	0|0.94	-9.3151|-9.3151	9.5645|9.5645	0.39389|0.39389	0.0761:0.0:0.6662:0.2577|0.0761:0.0:0.6662:0.2577	rs7212573|rs7212573	114|249	Q495Z4|Q96NS5	CQ065_HUMAN|ASB16_HUMAN	R|A	114|249	.|ENSP00000293414:T249A	ENSP00000366342:C114R|ENSP00000293414:T249A	C|T	-|+	1|1	0|0	C17orf65|ASB16	39609807|39609807	0.002000|0.002000	0.14202|0.14202	0.723000|0.723000	0.30687|0.30687	0.056000|0.056000	0.15407|0.15407	1.059000|1.059000	0.30517|0.30517	0.777000|0.777000	0.33496|0.33496	-0.227000|-0.227000	0.12334|0.12334	TGT|ACG	A|0.476;G|0.524		0.756	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			G	42254281	A	G	42254281	3	3	41	1	0	0	0	0	1	0	0	0	1021	159	6	4	755	4	ASB16	17	42254281	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	2948507	42254281	38940929	48	9171											
PLEKHM1	9842	bcgsc.ca	37	chr17	43552921	43552921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcgccctcctcagcatcCcggagcagggcggtgggctg	14	15	1	0	rs12452273	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:43552921C>T	ENST00000430334.3	-	4	601	c.468G>A	c.(466-468)cgG>cgA	p.R156R	PLEKHM1_ENST00000421073.2_Silent_p.R67R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	156	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTCAGCATCCCGGAGCAGGG	0.602													C|||	412	0.0822684	0.0378	0.1556	5008	,	,		19188	0.001		0.1958	False		,,,				2504	0.0573				p.R156R		.											.	PLEKHM1-90	0			c.G468A						.	C		276,4128	141.9+/-177.2	10,256,1936	43	42	42		468	-4.5	0.2	17	dbSNP_120	42	1606,6992	272.0+/-289.9	155,1296,2848	no	coding-synonymous	PLEKHM1	NM_014798.2		165,1552,4784	TT,TC,CC		18.6788,6.267,14.4747		156/1057	43552921	1882,11120	2202	4299	6501	SO:0001819	synonymous_variant	9842	exon4			AGCATCCCGGAGC	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.468G>A	17.37:g.43552921C>T		Somatic	323	4		WXS	Illumina GAIIx	Phase_I	260	9	NM_014798	0	0	0	0	0	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																			C|0.865;T|0.135		0.602	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		T	43552921	C	T	43552921	2	4	41	1	0	0	0	0	0	0	0	1	12119	610	22	3		3	PLEKHM1	17	43552921	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	1298640	43552921	37642289	49	9172											
ABCA6	23460	bcgsc.ca	37	chr17	67081276	67081276	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcacgttctcttgaggGcagtaccccaggtggcccaa	11	14	1	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:67081276G>T	ENST00000284425.2	-	32	4251	c.4077C>A	c.(4075-4077)tgC>tgA	p.C1359*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1359	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)					TCTCTTGAGGGCAGTACCCCA	0.532																																					p.C1359X		.											.	ABCA6-159	0			c.C4077A						.						48	38	41					17																	67081276		2203	4300	6503	SO:0001587	stop_gained	23460	exon32			TTGAGGGCAGTAC	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.4077C>A	17.37:g.67081276G>T	ENSP00000284425:p.Cys1359*	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_080284	0	0	0	0	0	Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	43	9.851422	0.99280	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	.	.	.	4.76	-2.84	0.05751	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0707	0.59059	0.4633:0.0:0.5367:0.0	.	.	.	.	X	1359;219	.	ENSP00000284425:C1359X	C	-	3	2	ABCA6	64592871	0.562000	0.26586	0.973000	0.42090	0.946000	0.59487	-0.246000	0.08878	-0.698000	0.05085	-0.312000	0.09012	TGC	.		0.532	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		T	67081276	G	T	67081276	4	4	41	1	0	0	0	0	0	1	0	0	36	1195	42	3	808	3	ABCA6	17	67081276	Nonsense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	23528355	67081276	14113934	50	9173											
FAM104A	84923	broad.mit.edu	37	chr17	71205699	71205699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgccctcggtgctgtaggCtgtggaagtgggcctccctc	15	14	0	0			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:71205699C>A	ENST00000403627.3	-	3	590	c.530G>T	c.(529-531)aGc>aTc	p.S177I	FAM104A_ENST00000405159.3_Missense_Mutation_p.S198I|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_Missense_Mutation_p.S87I	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GTGCTGTAGGCTGTGGAAGTG	0.582																																					p.S198I		.											.	.	0			c.G593T						.						30	26	27					17																	71205699		2202	4300	6502	SO:0001583	missense	84923	exon4			TGTAGGCTGTGGA	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.530G>T	17.37:g.71205699C>A	ENSP00000384648:p.Ser177Ile	Somatic	74	2		WXS	Illumina GAIIx	Phase_I	72	8	NM_001098832	0	0	0	0	0	B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872973	0.91664	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.61274	0.12;0.12	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.952	T	0.77112	-0.2708	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	198;177	Q969W3-2;Q969W3	.;F104A_HUMAN	I	177;198	ENSP00000384648:S177I;ENSP00000384832:S198I	ENSP00000384648:S177I	S	-	2	0	FAM104A	68717294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	2.840000	0.97914	0.655000	0.94253	AGC	.		0.582	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		A	71205699	C	A	71205699	3	1	41	1	0	0	0	0	1	0	0	0	5404	797	28	3	34	3	FAM104A	17	71205699	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	4124423	71205699	9989511	51	9174											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.A438T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	28	25	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	41	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	7890416	79096115	2099095	52	9175											
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	81009622	81009622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcacctaccacgtgggcCtgcatggcctggctctcctc	11	17	1	0	rs59686903	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:81009622C>T	ENST00000320865.3	-	1	64	c.51G>A	c.(49-51)caG>caA	p.Q17Q	B3GNTL1_ENST00000576599.1_5'Flank|B3GNTL1_ENST00000571954.1_5'Flank	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	17							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCACGTGGGCCTGCATGGCCT	0.766													C|||	728	0.145367	0.0809	0.0605	5008	,	,		10471	0.1915		0.1163	False		,,,				2504	0.2751				p.Q17Q		.											.	B3GNTL1-92	0			c.G51A						.	C		198,2642		10,178,1232	6	6	6		51	0.5	0	17	dbSNP_129	6	518,4562		23,472,2045	no	coding-synonymous	B3GNTL1	NM_001009905.1		33,650,3277	TT,TC,CC		10.1969,6.9718,9.0404		17/362	81009622	716,7204	1420	2540	3960	SO:0001819	synonymous_variant	146712	exon1			GTGGGCCTGCATG	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.51G>A	17.37:g.81009622C>T		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001009905	0	0	0	0	0	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																			C|0.880;T|0.120		0.766	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		T	81009622	C	T	81009622	2	4	41	1	0	0	0	0	0	0	0	1	1266	680	24	3		3	B3GNTL1	17	81009622	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	1913507	81009622	185588	53	9176			2	44		2	2	15	N	T_C	3.301327e-05
B3GNTL1	146712	hgsc.bcm.edu	37	chr17	81009636	81009636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcctgcatggcctggcTctcctcggacgccccgccca	13	18	1	0	rs57923322	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr17:81009636T>G	ENST00000320865.3	-	1	50	c.37A>C	c.(37-39)Agc>Cgc	p.S13R	B3GNTL1_ENST00000576599.1_5'Flank|B3GNTL1_ENST00000571954.1_5'Flank	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	13				S -> R (in Ref. 1; AAQ74775). {ECO:0000305}.			transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ATGGCCTGGCTCTCCTCGGAC	0.761													G|||	1187	0.237021	0.146	0.1383	5008	,	,		10101	0.3393		0.2296	False		,,,				2504	0.3323				p.S13R		.											.	B3GNTL1-92	0			c.A37C						.	G	ARG/SER	332,2470		24,284,1093	6	5	5		37	0.6	0	17	dbSNP_129	5	802,4208		58,686,1761	no	missense	B3GNTL1	NM_001009905.1	110	82,970,2854	GG,GT,TT		16.008,11.8487,14.5161	benign	13/362	81009636	1134,6678	1401	2505	3906	SO:0001583	missense	146712	exon1			CCTGGCTCTCCTC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.37A>C	17.37:g.81009636T>G	ENSP00000319979:p.Ser13Arg	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001009905	0	0	0	0	0	Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	CCDS32778.1	474	0.21703296703296704	73	0.1483739837398374	55	0.15193370165745856	171	0.29895104895104896	175	0.23087071240105542	G	5.126	0.208889	0.09757	0.118487	0.16008	ENSG00000175711	ENST00000320865	T	0.43688	0.94	1.58	0.586	0.17434	.	13.166200	0.00687	N	0.000717	T	0.00012	0.0000	L	0.28740	0.885	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	8	.	.	.	.	2.1956	0.03910	0.1979:0.0:0.4977:0.3044	rs57923322;rs61743210	13	Q67FW5	B3GNL_HUMAN	R	13	ENSP00000319979:S13R	.	S	-	1	0	B3GNTL1	78602925	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-0.113000	0.11958	-0.478000	0.04885	AGC	T|0.786;G|0.214		0.761	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		G	81009636	T	G	81009636	3	3	41	1	0	0	0	0	1	0	0	0	1266	1551	54	5	1096	5	B3GNTL1	17	81009636	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	14	81009636	185574	54	9177			2	44		2	2	15	N	T_C	3.301327e-05
KIAA0802	23255	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	8826196	8826196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccacagtgacagccactCgctgggggacacagccgagc	12	15	1	1	rs543844504	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr18:8826196C>T	ENST00000306329.11	+	13	5645	c.5645C>T	c.(5644-5646)tCg>tTg	p.S1882L	SOGA2_ENST00000517570.1_Missense_Mutation_p.S1522L|SOGA2_ENST00000359865.3_Missense_Mutation_p.S1563L|SOGA2_ENST00000518815.1_Missense_Mutation_p.S888L|SOGA2_ENST00000306285.7_Missense_Mutation_p.S888L|SOGA2_ENST00000400050.3_Missense_Mutation_p.S1522L																							GACAGCCACTCGCTGGGGGAC	0.632													C|||	2	0.000399361	0	0	5008	,	,		15535	0		0	False		,,,				2504	0.002				p.S1563L		.											.	.	0			c.C4688T						.						18	20	20					18																	8826196		2173	4228	6401	SO:0001583	missense	23255	exon15			GCCACTCGCTGGG																												ENST00000306329.11:c.5645C>T	18.37:g.8826196C>T	ENSP00000305027:p.Ser1882Leu	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	110	98	NM_015210	0	0	0	0	0		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	14.08	2.427218	0.43122	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32023	2.48;2.48;2.48;1.47	5.41	-3.37	0.04898	.	7.839910	0.00166	N	0.000000	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B;B	0.17852	0.011;0.024	B;B	0.09377	0.001;0.004	T	0.24799	-1.0150	10	0.41790	T	0.15	3.5122	7.5929	0.28031	0.0:0.406:0.1128:0.4812	.	1873;1563	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	1584;1522;1563;1522;888	ENSP00000429556:S1522L;ENSP00000352927:S1563L;ENSP00000382924:S1522L;ENSP00000303670:S888L	ENSP00000303670:S888L	S	+	2	0	CCDC165	8816196	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-0.126000	0.10563	-0.483000	0.06772	0.462000	0.41574	TCG	.		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8826196	C	T	8826196	3	4	41	1	0	0	0	0	1	0	0	0	8221	893	31	1	4738	1	KIAA0802	18	8826196	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		8826196	69251052	55	9178											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	41	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	61383125	70209321	7867927	56	9179											
NWD1	284434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16861150	16861150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagccacgcaccaacTctgcacccgcctggagcaga	11	15	1	2			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:16861150T>A	ENST00000552788.1	+	4	1697	c.1697T>A	c.(1696-1698)cTc>cAc	p.L566H	NWD1_ENST00000339803.6_Missense_Mutation_p.L431H|NWD1_ENST00000549814.1_Missense_Mutation_p.L566H|NWD1_ENST00000379808.3_Missense_Mutation_p.L566H|NWD1_ENST00000523826.1_Missense_Mutation_p.L360H|NWD1_ENST00000524140.2_Missense_Mutation_p.L566H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	566	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGCACCAACTCTGCACCCGC	0.617																																					p.L566H		.											.	NWD1-7	0			c.T1697A						.						23	25	24					19																	16861150		2203	4300	6503	SO:0001583	missense	284434	exon6			ACCAACTCTGCAC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1697T>A	19.37:g.16861150T>A	ENSP00000447224:p.Leu566His	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	82	34	NM_001007525	0	0	0	0	0	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	T	15.11	2.736874	0.49045	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.64803	-0.12;-0.06;-0.12;-0.09;-0.08;-0.05	5.04	5.04	0.67666	.	0.235814	0.34603	N	0.003824	T	0.78780	0.4337	M	0.80183	2.485	0.46279	D	0.998963	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.98;0.991;0.915	T	0.81810	-0.0762	10	0.72032	D	0.01	-22.4071	12.6949	0.56997	0.0:0.0:0.0:1.0	.	566;566;431	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	431;566;566;566;360;566;431	ENSP00000428579:L566H;ENSP00000447548:L566H;ENSP00000369136:L566H;ENSP00000428955:L360H;ENSP00000447224:L566H;ENSP00000340159:L431H	ENSP00000340159:L431H	L	+	2	0	NWD1	16722150	1.000000	0.71417	0.962000	0.40283	0.041000	0.13682	6.026000	0.70873	1.894000	0.54839	0.448000	0.29417	CTC	.		0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16861150	T	A	16861150	3	1	41	1	0	0	0	0	1	0	0	0	10820	1551	54	5	1298	5	NWD1	19	16861150	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10		16861150	42267833	57	9180											
TBCB	1155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36611666	36611666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggacgtgtcccgggtgGagaagtacacgatctcacaa	13	9	1	2			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:36611666G>A	ENST00000221855.3	+	3	888	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TBCB_ENST00000585746.1_Missense_Mutation_p.E54K|TBCB_ENST00000589996.1_Missense_Mutation_p.E105K|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000586868.1_Intron	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	105					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCCCGGGTGGAGAAGTACAC	0.632																																					p.E105K		.											.	TBCB-90	0			c.G313A						.						91	72	79					19																	36611666		2203	4300	6503	SO:0001583	missense	1155	exon3			CGGGTGGAGAAGT	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.313G>A	19.37:g.36611666G>A	ENSP00000221855:p.Glu105Lys	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	173	67	NM_001281	0	0	0	0	0	O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987144	0.35036	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.92397	-3.03	5.22	3.07	0.35406	Cytoskeleton-associated protein, Gly-rich domain (1);	0.159958	0.53938	N	0.000059	D	0.88247	0.6385	L	0.58925	1.835	0.80722	D	1	B;B	0.20671	0.047;0.003	B;B	0.19148	0.024;0.021	T	0.82621	-0.0367	10	0.49607	T	0.09	-20.9552	7.3682	0.26785	0.0916:0.1688:0.7396:0.0	.	54;105	Q6FGY5;Q99426	.;TBCB_HUMAN	K	105	ENSP00000221855:E105K	ENSP00000221855:E105K	E	+	1	0	TBCB	41303506	1.000000	0.71417	0.997000	0.53966	0.145000	0.21501	3.001000	0.49488	0.596000	0.29794	0.448000	0.29417	GAG	.		0.632	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		A	36611666	G	A	36611666	3	1	41	1	0	0	0	0	1	0	0	0	15677	1175	41	3	323	3	TBCB	19	36611666	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	19750516	36611666	22517317	58	9181											
NUMBL	9253	hgsc.bcm.edu	37	chr19	41173886	41173886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgctgctgCtgctgctgctgttgctgttg	14	10	0	0	rs62640392		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:41173886C>T	ENST00000252891.4	-	10	1484	c.1317G>A	c.(1315-1317)caG>caA	p.Q439Q	NUMBL_ENST00000598779.1_Silent_p.Q398Q|NUMBL_ENST00000540131.1_Silent_p.Q398Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	439	Poly-Gln.				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)			gctgctgctgctgctgctgct	0.657																																					p.Q439Q		.											.	NUMBL-637	0			c.G1317A						.						9	8	8					19																	41173886		2013	3879	5892	SO:0001819	synonymous_variant	9253	exon10			CTGCTGCTGCTGC	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.1317G>A	19.37:g.41173886C>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	99	12	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			C|0.984;T|0.016		0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		T	41173886	C	T	41173886	2	4	41	1	0	0	0	0	0	0	0	1	10791	796	28	3		3	NUMBL	19	41173886	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	4562220	41173886	17955097	59	9182			3	45		2	2	13	N	T_C	2.829716e-05
NUMBL	9253	hgsc.bcm.edu	37	chr19	41173898	41173898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgTtgctgttgctgctgctgctg	14	11	0	0	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:41173898T>C	ENST00000252891.4	-	10	1472	c.1305A>G	c.(1303-1305)caA>caG	p.Q435Q	NUMBL_ENST00000598779.1_Silent_p.Q394Q|NUMBL_ENST00000540131.1_Silent_p.Q394Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				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)			gctgctgctgttgctgttgct	0.667																																					p.Q435Q		.											.	NUMBL-637	0			c.A1305G						.						5	6	6					19																	41173898		1943	3908	5851	SO:0001819	synonymous_variant	9253	exon10			CTGCTGTTGCTGT	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.1305A>G	19.37:g.41173898T>C		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	92	23	NM_004756	0	0	0	0	0	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		C	41173898	T	C	41173898	2	2	41	1	0	0	0	0	0	0	0	1	10791	1722	60	4		4	NUMBL	19	41173898	Silent	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	12	41173898	17955085	60	9183			3	45		2	2	13	N	T_C	2.829716e-05
MARK4	57787	broad.mit.edu	37	chr19	45783864	45783864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggggcgccccagggctggCcctggcacgggtgcgggcgc	20	16	0	0			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:45783864C>A	ENST00000262891.4	+	12	1479	c.1148C>A	c.(1147-1149)gCc>gAc	p.A383D	MARK4_ENST00000300843.4_Missense_Mutation_p.A383D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	383					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)		CCAGGGCTGGCCCTGGCACGG	0.667																																					p.A383D		.											.	MARK4-782	0			c.C1148A						.						32	35	34					19																	45783864		2202	4298	6500	SO:0001583	missense	57787	exon12			GGCTGGCCCTGGC	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.1148C>A	19.37:g.45783864C>A	ENSP00000262891:p.Ala383Asp	Somatic	112	4		WXS	Illumina GAIIx	Phase_I	237	21	NM_001199867	0	0	0	0	0	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608146	0.66558	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.70749	-0.51;-0.51	5.64	5.64	0.86602	.	0.226096	0.36519	N	0.002546	T	0.60856	0.2301	L	0.29908	0.895	0.42701	D	0.993614	P;P;P	0.38922	0.566;0.651;0.557	B;B;B	0.35114	0.196;0.165;0.128	T	0.65602	-0.6128	10	0.54805	T	0.06	.	17.2054	0.86916	0.0:1.0:0.0:0.0	.	249;383;383	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	D	383	ENSP00000262891:A383D;ENSP00000300843:A383D	ENSP00000262891:A383D	A	+	2	0	MARK4	50475704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.844000	0.55873	2.675000	0.91044	0.462000	0.41574	GCC	.		0.667	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		A	45783864	C	A	45783864	3	1	41	1	0	0	0	0	1	0	0	0	9353	739	26	3	1194	3	MARK4	19	45783864	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	4609966	45783864	13345119	61	9184											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	41	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	3381088	49164952	9964031	62	9185											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	41	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	6828308	55993260	3135723	63	9186											
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	3210295	3210318	+	In_Frame_Del	DEL	GCTGGCGTTGAGGGCAGTGTGGAG	GCTGGCGTTGAGGGCAGTGTGGAG	-													tccgtggggctggcgaggaaGctggcgttgagggcagtgtg					rs200422150|rs41281860|rs141743086	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	GCTGGCGTTGAGGGCAGTGTGGAG	GCTGGCGTTGAGGGCAGTGTGGAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr20:3210295_3210318delGCTGGCGTTGAGGGCAGTGTGGAG	ENST00000380056.3	-	13	1689_1712	c.1642_1665delCTCCACACTGCCCTCAACGCCAGC	c.(1642-1665)ctccacactgccctcaacgccagcdel	p.LHTALNAS548del	SLC4A11_ENST00000539553.2_In_Frame_Del_p.LHTALNAS532del|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_In_Frame_Del_p.LHTALNAS575del	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	548	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTG	0.625																																					p.575_582del	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.1723_1746del						.																																			SO:0001651	inframe_deletion	83959	exon14			GAGGAAGCTGGCG	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.1642_1665delCTCCACACTGCCCTCAACGCCAGC	20.37:g.3210295_3210318delGCTGGCGTTGAGGGCAGTGTGGAG	ENSP00000369396:p.Leu548_Ser555del	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	148	45	NM_001174090	0	0	0	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	In_Frame_Del	DEL	ENST00000380056.3	37	CCDS13052.1																																																																																			.		0.625	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			-	3210318	GCTGGCGTTGAGGGCAGTGTGGAG	-	3210295	7	5	41	1	0	1	0	1	0	0	0	0	14697	962	34	0	1038	0	SLC4A11	20	3210295	In_Frame_Del	DEL	GCTGGCGTTGAGGGCAGTGTGGAG	TCGA-OR-A5L1-01A-11D-A30A-10		3210295	59815225	64	9187											
C20orf103	24141	bcgsc.ca	37	chr20	9496716	9496716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggccgctgtggccacagcCagtcggagctgcaagtgttc	15	12	0	0	rs2232264	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr20:9496716C>G	ENST00000246070.2	+	3	799	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	103			Q -> E (in dbSNP:rs2232264).			cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TGGCCACAGCCAGTCGGAGCT	0.622													G|||	1234	0.246406	0.562	0.2003	5008	,	,		15813	0.131		0.1382	False		,,,				2504	0.0828				p.Q103E		.											.	.	0			c.C307G						.	G	,GLU/GLN	2290,2116	566.0+/-381.8	590,1110,503	35	35	35		,307	6	1	20	dbSNP_98	35	1424,7176	742.0+/-407.2	111,1202,2987	yes	intron,missense	C20orf103	NM_001199897.1,NM_012261.3	,29	701,2312,3490	GG,GC,CC		16.5581,48.0254,28.5561	,benign	,103/281	9496716	3714,9292	2203	4300	6503	SO:0001583	missense	24141	exon3			CACAGCCAGTCGG	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.307C>G	20.37:g.9496716C>G	ENSP00000246070:p.Gln103Glu	Somatic	196	3		WXS	Illumina GAIIx	Phase_I	325	9	NM_012261	0	0	0	0	0	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	513	0.2348901098901099	249	0.5060975609756098	74	0.20441988950276244	86	0.15034965034965034	104	0.13720316622691292	G	5.673	0.308768	0.10733	0.519746	0.165581	ENSG00000125869	ENST00000246070	T	0.30981	1.51	6.01	6.01	0.97437	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	8	.	.	.	-20.3116	17.5415	0.87849	0.0:0.1238:0.8762:0.0	rs2232264;rs52813663;rs56575354;rs2232264	103	Q9UJQ1	CT103_HUMAN	E	103	ENSP00000246070:Q103E	.	Q	+	1	0	C20orf103	9444716	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	6.363000	0.73082	1.573000	0.49748	-0.120000	0.15030	CAG	C|0.731;G|0.269		0.622	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		G	9496716	C	G	9496716	3	3	41	1	0	0	0	0	1	0	0	0	2082	595	21	3	317	3	C20orf103	20	9496716	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	6286421	9496716	53528804	65	9188											
SON	6651	hgsc.bcm.edu	37	chr21	34948684	34948684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaataggtattgagaaatgGagcccttaccagacccaatt	9	8	0	3	rs397829693|rs34377180		TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr21:34948684G>A	ENST00000356577.4	+	12	7710	c.7235G>A	c.(7234-7236)gGa>gAa	p.G2412E	AP000304.1_ENST00000595468.1_5'Flank|SON_ENST00000470533.1_Intron|DONSON_ENST00000303113.6_Intron|SON_ENST00000381692.2_Missense_Mutation_p.G440E|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2412	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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						TTGAGAAATGGAGCCCTTACC	0.338																																					p.G2412E		.											.	SON-97	0			c.G7235A						.						55	55	55					21																	34948684		2201	4295	6496	SO:0001583	missense	6651	exon12			GAAATGGAGCCCT	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.7235G>A	21.37:g.34948684G>A	ENSP00000348984:p.Gly2412Glu	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	67	2	NM_138927	0	0	0	0	0	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434360	0.43224	.	.	ENSG00000159140	ENST00000356577;ENST00000381692	T;T	0.69306	-0.39;-0.39	5.42	5.42	0.78866	Double-stranded RNA-binding-like (1);	0.000000	0.51477	D	0.000097	T	0.71134	0.3304	M	0.69823	2.125	0.80722	D	1	D;P	0.59767	0.986;0.799	P;B	0.50970	0.655;0.435	T	0.75127	-0.3427	10	0.87932	D	0	.	9.3335	0.38036	0.0788:0.1457:0.7755:0.0	.	440;2412	Q6ZRV7;P18583	.;SON_HUMAN	E	2412;440	ENSP00000348984:G2412E;ENSP00000371111:G440E	ENSP00000348984:G2412E	G	+	2	0	SON	33870554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.898000	0.48672	2.560000	0.86352	0.555000	0.69702	GGA	.		0.338	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34948684	G	A	34948684	3	1	41	1	0	0	0	0	1	0	0	0	14971	1174	41	3	7540	3	SON	21	34948684	Missense_Mutation	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		34948684	13181211	66	9189											
PCNT	5116	bcgsc.ca	37	chr21	47851796	47851796	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtggtggacttgcaagcGatgcttgaaaaggtgcagca	16	7	0	1	rs9983522	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr21:47851796G>A	ENST00000359568.5	+	38	8525	c.8418G>A	c.(8416-8418)gcG>gcA	p.A2806A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2806					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTTGCAAGCGATGCTTGAAA	0.582													G|||	734	0.146565	0.0666	0.1801	5008	,	,		20552	0.1984		0.1252	False		,,,				2504	0.1994				p.A2806A		.											.	PCNT-141	0			c.G8418A						.	G		279,4127	155.2+/-188.4	11,257,1935	59	58	58		8418	-10.6	0	21	dbSNP_119	58	1054,7546	221.6+/-259.0	63,928,3309	no	coding-synonymous	PCNT	NM_006031.5		74,1185,5244	AA,AG,GG		12.2558,6.3323,10.2491		2806/3337	47851796	1333,11673	2203	4300	6503	SO:0001819	synonymous_variant	5116	exon38			GCAAGCGATGCTT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8418G>A	21.37:g.47851796G>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	130	6	NM_006031	0	0	0	0	0	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			G|0.887;A|0.113		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47851796	G	A	47851796	2	1	41	1	0	0	0	0	0	0	0	1	11629	1045	37	1		1	PCNT	21	47851796	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	12903112	47851796	278099	67	9190											
MYH9	4627	broad.mit.edu	37	chr22	36702092	36702092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagatgcgggtccagcttGccggcctggagaagaaaaca	14	10	0	3			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr22:36702092G>T	ENST00000216181.5	-	17	2273	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	681	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.G681G(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCCAGCTTGCCGGCCTGGA	0.597			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												p.G681G		.		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	.	MYH9-292	1	Substitution - coding silent(1)	kidney(1)	c.C2043A						.						61	58	59					22																	36702092		2203	4300	6503	SO:0001819	synonymous_variant	4627	exon17	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CAGCTTGCCGGCC		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.2043C>A	22.37:g.36702092G>T		Somatic	101	4		WXS	Illumina GAIIx	Phase_I	79	7	NM_002473	0	0	0	0	0	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																			.		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36702092	G	T	36702092	2	4	41	1	0	0	0	0	0	0	0	1	10080	1306	46	3		3	MYH9	22	36702092	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10		36702092	14602474	68	9191											
SH3BP1	23616	hgsc.bcm.edu	37	chr22	38051355	38051355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctcccctccagccccGcccttgccccctggctctgg	8	24	1	0	rs762989	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr22:38051355G>A	ENST00000357436.4	+	18	2083	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	590					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)					CTCCAGCCCCGCCCTTGCCCC	0.741													G|||	975	0.194688	0.2867	0.3055	5008	,	,		4753	0.0833		0.1799	False		,,,				2504	0.1217				p.P590P		.											.	SH3BP1-90	0			c.G1770A						.	G		606,2448		46,514,967	3	4	4		1770	-1	0	22	dbSNP_86	4	739,5643		39,661,2491	no	coding-synonymous	SH3BP1	NM_018957.3		85,1175,3458	AA,AG,GG		11.5794,19.8428,14.2539		590/702	38051355	1345,8091	1527	3191	4718	SO:0001819	synonymous_variant	23616	exon18			AGCCCCGCCCTTG		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.1770G>A	22.37:g.38051355G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	16	14	NM_018957	0	0	0	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			G|0.825;A|0.175		0.741	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		A	38051355	G	A	38051355	2	1	41	1	0	0	0	0	0	0	0	1	14289	1074	38	1		1	SH3BP1	22	38051355	Silent	SNP	G	TCGA-OR-A5L1-01A-11D-A30A-10	1349263	38051355	13253211	69	9192											
TTLL12	23170	bcgsc.ca	37	chr22	43579049	43579049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtagcacagctcgTtccccgggttgggctgctgc	13	13	0	1	rs13058467	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chr22:43579049T>C	ENST00000216129.6	-	2	347	c.284A>G	c.(283-285)aAc>aGc	p.N95S		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	95			N -> S (in dbSNP:rs13058467).		cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCACAGCTCGTTCCCCGGGTT	0.632													C|||	249	0.0497204	0.0522	0.0692	5008	,	,		18526	0.001		0.0974	False		,,,				2504	0.0337				p.N95S		.											.	TTLL12-90	0			c.A284G						.	C	SER/ASN	320,4086	797.0+/-415.4	12,296,1895	132	122	126		284	0.1	0	22	dbSNP_121	126	930,7670	776.5+/-407.7	55,820,3425	yes	missense	TTLL12	NM_015140.3	46	67,1116,5320	CC,CT,TT		10.814,7.2628,9.6109	benign	95/645	43579049	1250,11756	2203	4300	6503	SO:0001583	missense	23170	exon2			AGCTCGTTCCCCG	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.284A>G	22.37:g.43579049T>C	ENSP00000216129:p.Asn95Ser	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	116	7	NM_015140	0	0	0	0	0	Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	CCDS14047.1	132	0.06043956043956044	33	0.06707317073170732	29	0.08011049723756906	0	0.0	70	0.09234828496042216	C	0.107	-1.143970	0.01728	0.072628	0.10814	ENSG00000100304	ENST00000216129;ENST00000357017;ENST00000423379	T	0.06608	3.28	5.08	0.0633	0.14348	.	0.876012	0.09812	N	0.752737	T	0.00073	0.0002	N	0.14661	0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47381	-0.9122	9	0.10111	T	0.7	-9.0748	0.8509	0.01172	0.1548:0.2013:0.3024:0.3415	rs13058467;rs58544459;rs13058467	95;95	B1AH89;Q14166	.;TTL12_HUMAN	S	95	ENSP00000216129:N95S	ENSP00000216129:N95S	N	-	2	0	TTLL12	41908993	0.000000	0.05858	0.001000	0.08648	0.450000	0.32258	0.178000	0.16820	0.177000	0.19895	-0.119000	0.15052	AAC	T|0.917;C|0.083		0.632	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		C	43579049	T	C	43579049	3	2	41	1	0	0	0	0	1	0	0	0	16774	1725	60	4	1702	4	TTLL12	22	43579049	Missense_Mutation	SNP	T	TCGA-OR-A5L1-01A-11D-A30A-10	5527694	43579049	7725517	70	9193											
CD99	4267	bcgsc.ca	37	chrX	2644302	2644302	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcttcctcctgcagcCgacgccccaggcgtgatccc	11	17	0	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chrX:2644302C>T	ENST00000381192.3	+	8	545	c.363C>T	c.(361-363)gcC>gcT	p.A121A	CD99_ENST00000381184.1_Splice_Site_p.A121A|CD99_ENST00000381187.3_Splice_Site_p.A105A|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	121					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CTCCTGCAGCCGACGCCCCAG	0.597													.|||	594	0.11861	0.0741	0.2075	5008	,	,		18276	0.0804		0.1362	False		,,,				2504	0.137				p.A121A		.											.	CD99-40	0			c.C363T						.	C	,	405,4001		22,361,1820	72	72	72		315,363	-5	0	X	dbSNP_134	72	1289,7303		91,1107,3098	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CD99	NM_001122898.1,NM_002414.3	,	113,1468,4918	TT,TC,CC		15.0023,9.192,13.0328	,	105/170,121/186	2644302	1694,11304	2203	4296	6499	SO:0001630	splice_region_variant	4267	exon8			TGCAGCCGACGCC	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"Pseudoautosomal regions / PAR1", "CD molecules"	7082	protein-coding gene	gene with protein product		313470, 450000	"antigen identified by monoclonal antibodies 12E7, F21 and O13", "CD99 antigen"	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.362-1C>T	X.37:g.2644302C>T		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	162	7	NM_002414	0	0	0	0	0	A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	CCDS14119.1																																																																																			.		0.597	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898	Silent	T	2644302	C	T	2644302	5	4	41	1	0	0	0	0	0	0	1	0	3057	666	23	1	393	1	CD99	23	2644302	Splice_Site	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10		2644302	152626258	71	9194											
MAGEC1	9947	bcgsc.ca	37	chrX	140994913	140994913	+	Missense_Mutation	SNP	C	C	A													ctcctcagggggaggactccCtgtctcctcactactttcct							TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chrX:140994913C>A	ENST00000285879.4	+	4	2009	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575										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)					GGAGGACTCCCTGTCTCCTCA	0.597										HNSCC(15;0.026)																											p.L575M		.											.	MAGEC1-133	0			c.C1723A						.						239	258	251					X																	140994913		2203	4300	6503	SO:0001583	missense	9947	exon4			GACTCCCTGTCTC	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.1723C>A	X.37:g.140994913C>A	ENSP00000285879:p.Leu575Met	Somatic	98	4		WXS	Illumina GAIIx	Phase_I	47	33	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.952705	0.34471	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	0.92	0.92	0.19397	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.61397	0.888	T	0.62530	-0.6835	9	0.46703	T	0.11	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	575	O60732	MAGC1_HUMAN	M	575	ENSP00000285879:L575M	ENSP00000285879:L575M	L	+	1	2	MAGEC1	140822579	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.593000	0.05740	0.179000	0.19938	0.181000	0.17075	CTG	.		0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994913	C	A	140994913	3	1	41	1	0	0	0	0	1	0	0	0	9218	680	24	3	1729	3	MAGEC1	23	140994913	Missense_Mutation	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	138350611	140994913	14275647	72	9195	86	2	4	46		3	2	27	N	C_A	6.130949e-05
MAGEC1	9947	ucsc.edu;bcgsc.ca	37	chrX	140994923	140994923	+	Missense_Mutation	SNP	A	A	T													ggaggactccctgtctcctcActactttcctcagagccctc							TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chrX:140994923A>T	ENST00000285879.4	+	4	2019	c.1733A>T	c.(1732-1734)cAc>cTc	p.H578L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	578										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)					CTGTCTCCTCACTACTTTCCT	0.582										HNSCC(15;0.026)																											p.H578L		.											.	MAGEC1-133	0			c.A1733T						.						241	259	253					X																	140994923		2203	4300	6503	SO:0001583	missense	9947	exon4			CTCCTCACTACTT	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.1733A>T	X.37:g.140994923A>T	ENSP00000285879:p.His578Leu	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	34	18	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	0.012	-1.674894	0.00758	.	.	ENSG00000155495	ENST00000285879	T	0.02050	4.48	0.92	-1.84	0.07809	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.24667	N	0.993435	B	0.06786	0.001	B	0.04013	0.001	T	0.46735	-0.9170	9	0.27082	T	0.32	.	2.0331	0.03534	0.496:0.0:0.2423:0.2617	.	578	O60732	MAGC1_HUMAN	L	578	ENSP00000285879:H578L	ENSP00000285879:H578L	H	+	2	0	MAGEC1	140822589	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-2.200000	0.01237	-1.408000	0.02040	-1.471000	0.01009	CAC	.		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994923	A	T	140994923	3	4	41	1	0	0	0	0	1	0	0	0	9218	159	6	5	1739	5	MAGEC1	23	140994923	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	10	140994923	14275637	73	9196	86	2	4	46		3	2	27	N	C_A	6.130949e-05
MAGEC1	9947	bcgsc.ca	37	chrX	140994939	140994939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcactactttcctcagagCcctcagggggaggactccct	9	16	3	1			TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chrX:140994939C>T	ENST00000285879.4	+	4	2035	c.1749C>T	c.(1747-1749)agC>agT	p.S583S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	583										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)					TTCCTCAGAGCCCTCAGGGGG	0.587										HNSCC(15;0.026)																											p.S583S		.											.	MAGEC1-133	0			c.C1749T						.						235	253	247					X																	140994939		2203	4300	6503	SO:0001819	synonymous_variant	9947	exon4			TCAGAGCCCTCAG	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.1749C>T	X.37:g.140994939C>T		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	26	5	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																			.		0.587	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994939	C	T	140994939	2	4	41	1	0	0	0	0	0	0	0	1	9218	738	26	3		3	MAGEC1	23	140994939	Silent	SNP	C	TCGA-OR-A5L1-01A-11D-A30A-10	16	140994939	14275621	74	9197			4	46		3	2	27	N	C_A	6.130949e-05
IRAK1	3654	bcgsc.ca	37	chrX	153284192	153284192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggggccagcaaaacggaAaggggcgggctccctgcagg	18	10	0	1	rs1059702	byFrequency	TCGA-OR-A5L1-01A-11D-A30A-10	TCGA-OR-A5L1-10A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ec61f9a9-1d55-4395-975b-9dae30944df4	b0f55c34-a9e1-49b6-9835-fa1825bfe350	g.chrX:153284192A>G	ENST00000369980.3	-	5	754	c.587T>C	c.(586-588)tTt>tCt	p.F196S	IRAK1_ENST00000393682.1_Missense_Mutation_p.F222S|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Missense_Mutation_p.F196S|IRAK1_ENST00000429936.2_Missense_Mutation_p.F222S|IRAK1_ENST00000393687.2_Missense_Mutation_p.F196S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	196	ProST region.		F -> S (in dbSNP:rs1059702). {ECO:0000269|PubMed:8599092}.		activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAAACGGAAAGGGGCGGGC	0.642													G|||	2374	0.628874	0.7337	0.4337	3775	,	,		12789	0.1667		0.6491	False		,,,				2504	0.2883				p.F196S		.											.	IRAK1-1074	0			c.T587C						.	G	SER/PHE,SER/PHE,SER/PHE	3663,172		1491,139,542,2,29	40	39	39		587,587,587	3.7	0	X	dbSNP_86	39	5783,945		1800,578,1605,50,267	yes	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	155,155,155	3291,717,2147,52,296	GG,GA,G,AA,A		14.0458,4.485,10.5746	benign,benign,benign	196/683,196/634,196/713	153284192	9446,1117	2203	4300	6503	SO:0001583	missense	3654	exon5			AACGGAAAGGGGC	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.587T>C	X.37:g.153284192A>G	ENSP00000358997:p.Phe196Ser	Somatic	427	5		WXS	Illumina GAIIx	Phase_I	389	9	NM_001569	0	0	0	0	0	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	1126	0.6787221217600965	256	0.9552238805970149	116	0.48333333333333334	53	0.10474308300395258	339	0.7635135135135135	.	8.005	0.756226	0.15846	0.95515	0.859542	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T;D;D;T;T	0.92858	1.44;-3.12;-3.12;1.44;1.44	4.57	3.68	0.42216	Protein kinase-like domain (1);	0.475758	0.17848	N	0.159961	T	0.00012	0.0000	N	0.00116	-2.08	0.80722	P	0.0	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.44034	-0.9354	9	0.20046	T	0.44	-1.92	6.4293	0.21788	0.1022:0.3457:0.5521:0.0	rs1059702;rs17856471;rs58363670;rs1059702	196;196;196	P51617-4;P51617;P51617-2	.;IRAK1_HUMAN;.	S	196;196;222;196;222	ENSP00000358997:F196S;ENSP00000358991:F196S;ENSP00000377287:F222S;ENSP00000377291:F196S;ENSP00000392662:F222S	ENSP00000358990:F222S	F	-	2	0	IRAK1	152937386	0.053000	0.20554	0.002000	0.10522	0.090000	0.18270	0.487000	0.22356	0.235000	0.21160	-0.252000	0.11476	TTT	0|0.003;T|0.067		0.642	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			G	153284192	A	G	153284192	3	3	41	1	0	0	0	0	1	0	0	0	7848	14	1	4	1591	4	IRAK1	23	153284192	Missense_Mutation	SNP	A	TCGA-OR-A5L1-01A-11D-A30A-10	12289253	153284192	1986368	75	9198											
CCNL2	81669	broad.mit.edu;bcgsc.ca	37	chr1	1334591	1334591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgatcagcaccccctgCgaccctgagggtgcgccccc	10	21	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:1334591C>A	ENST00000400809.3	-	1	101	c.96G>T	c.(94-96)tcG>tcT	p.S32S	CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Silent_p.S32S|RP4-758J18.2_ENST00000444362.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	32					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)		GCACCCCCTGCGACCCTGAGG	0.706																																					p.S32S		.											.	CCNL2-70	0			c.G96T						.						40	37	38					1																	1334591		2202	4300	6502	SO:0001819	synonymous_variant	81669	exon1			CCCCTGCGACCCT	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.96G>T	1.37:g.1334591C>A		Somatic	57	1		WXS	Illumina GAIIx	Phase_I	71	39	NM_030937	0	0	0	0	0	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	CCDS30557.1																																																																																			.		0.706	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		A	1334591	C	A	1334591	2	1	42	1	0	0	0	0	0	0	0	1	2939	755	27	2		2	CCNL2	1	1334591	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		1334591	247916030	1	9199											
C1orf158	93190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	12815709	12815709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaaagaatacatccccttCccagaccacagaccagacca	5	15	0	5			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:12815709C>A	ENST00000288048.5	+	2	387	c.171C>A	c.(169-171)ttC>ttA	p.F57L	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	57										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATCCCCTTCCCAGACCACA	0.502																																					p.F57L		.											.	C1orf158-92	0			c.C171A						.						106	99	102					1																	12815709		2203	4300	6503	SO:0001583	missense	93190	exon2			CCCCTTCCCAGAC	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.171C>A	1.37:g.12815709C>A	ENSP00000288048:p.Phe57Leu	Somatic	340	1		WXS	Illumina GAIIx	Phase_I	354	162	NM_152290	0	0	0	0	0	Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	CCDS147.1	.	.	.	.	.	.	.	.	.	.	C	8.769	0.925544	0.18056	.	.	ENSG00000157330	ENST00000288048	T	0.42900	0.96	4.98	1.89	0.25635	.	0.351846	0.30109	N	0.010386	T	0.29355	0.0731	L	0.45137	1.4	0.80722	D	1	B;B	0.14805	0.011;0.004	B;B	0.13407	0.009;0.004	T	0.06917	-1.0800	10	0.41790	T	0.15	-8.4098	4.2765	0.10811	0.0:0.5806:0.1865:0.2329	.	57;57	B4DQE0;Q8N1D5	.;CA158_HUMAN	L	57	ENSP00000288048:F57L	ENSP00000288048:F57L	F	+	3	2	C1orf158	12738296	0.571000	0.26659	0.722000	0.30670	0.042000	0.13812	0.180000	0.16860	0.074000	0.16767	0.561000	0.74099	TTC	.		0.502	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		A	12815709	C	A	12815709	3	1	42	1	0	0	0	0	1	0	0	0	2014	854	30	3	177	3	C1orf158	1	12815709	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	11481118	12815709	236434912	2	9200											
NIPAL3	57185	broad.mit.edu	37	chr1	24766704	24766704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgatcttcgggcacctcGtggtcagcattgcacttaac	11	12	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:24766704G>T	ENST00000374399.4	+	3	504	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	NIPAL3_ENST00000358028.4_Missense_Mutation_p.V46L|NIPAL3_ENST00000428131.1_Missense_Mutation_p.V46L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.V46L|NIPAL3_ENST00000003912.3_5'UTR	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	46						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CGGGCACCTCGTGGTCAGCAT	0.547																																					p.V46L		.											.	NIPAL3-90	0			c.G136T						.						112	98	103					1																	24766704		2203	4300	6503	SO:0001583	missense	57185	exon3			CACCTCGTGGTCA	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.136G>T	1.37:g.24766704G>T	ENSP00000363520:p.Val46Leu	Somatic	85	1		WXS	Illumina GAIIx	Phase_I	127	4	NM_020448	0	0	0	0	0	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536949	0.27475	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	4.99	4.99	0.66335	.	0.066743	0.64402	D	0.000016	T	0.78168	0.4241	N	0.04820	-0.15	0.50039	D	0.99984	B;B;B	0.23990	0.081;0.076;0.095	B;B;B	0.25291	0.042;0.039;0.059	T	0.73833	-0.3858	10	0.13108	T	0.6	-27.5427	18.2839	0.90107	0.0:0.0:1.0:0.0	.	46;46;46	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	L	46	ENSP00000363520:V46L;ENSP00000350722:V46L;ENSP00000343549:V46L;ENSP00000406509:V46L	ENSP00000343549:V46L	V	+	1	0	NIPAL3	24639291	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	4.851000	0.62896	2.321000	0.78463	0.591000	0.81541	GTG	.		0.547	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		T	24766704	G	T	24766704	3	4	42	1	0	0	0	0	1	0	0	0	10465	1145	40	2	142	2	NIPAL3	1	24766704	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	11950995	24766704	224483917	3	9201											
MACF1	23499	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39851188	39851188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcatcctaacaggccctgGagatgtctctctgtccacca	10	14	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:39851188G>T	ENST00000372915.3	+	56	14033	c.13946G>T	c.(13945-13947)gGa>gTa	p.G4649V	MACF1_ENST00000545844.1_Missense_Mutation_p.G2582V|MACF1_ENST00000361689.2_Missense_Mutation_p.G2582V|MACF1_ENST00000289893.4_Missense_Mutation_p.G3084V|MACF1_ENST00000567887.1_Missense_Mutation_p.G4681V|MACF1_ENST00000564288.1_Missense_Mutation_p.G4644V|MACF1_ENST00000539005.1_Missense_Mutation_p.G2561V|MACF1_ENST00000317713.7_Missense_Mutation_p.G2582V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4649					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)			ACAGGCCCTGGAGATGTCTCT	0.478																																					p.G2582V		.											.	MACF1-165	0			c.G7745T						.						59	52	55					1																	39851188		2203	4300	6503	SO:0001583	missense	23499	exon53			GCCCTGGAGATGT	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.13946G>T	1.37:g.39851188G>T	ENSP00000362006:p.Gly4649Val	Somatic	172	2		WXS	Illumina GAIIx	Phase_I	166	65	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182084|3.182084	0.57800|0.57800	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.65364|.	-0.12;-0.06;-0.12;-0.15;0.05;1.01|.	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.71517|0.71517	0.3349|0.3349	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.995|.	D;D;D|.	0.91635|.	0.999;0.981;0.948|.	T|T	0.71672|0.71672	-0.4522|-0.4522	10|5	0.52906|.	T|.	0.07|.	.|.	12.482|12.482	0.55850|0.55850	0.133:0.0:0.867:0.0|0.133:0.0:0.867:0.0	.|.	4649;2582;2526|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	2582;4649;2582;2582;2561;3084|1694	ENSP00000439537:G2582V;ENSP00000362006:G4649V;ENSP00000354573:G2582V;ENSP00000313438:G2582V;ENSP00000444364:G2561V;ENSP00000289893:G3084V|.	ENSP00000289893:G3084V|.	G|W	+|+	2|3	0|0	MACF1|MACF1	39623775|39623775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	6.472000|6.472000	0.73567|0.73567	1.636000|1.636000	0.50526|0.50526	-0.136000|-0.136000	0.14681|0.14681	GGA|TGG	.		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39851188	G	T	39851188	3	4	42	1	0	0	0	0	1	0	0	0	9180	1174	41	3	14102	3	MACF1	1	39851188	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	15084484	39851188	209399433	4	9202											
RPRD2	23248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150443166	150443166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaaatctgccctccaGtgcccaaccttttattccca	7	14	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:150443166G>A	ENST00000369068.4	+	11	1746	c.1742G>A	c.(1741-1743)aGt>aAt	p.S581N	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.S555N|RPRD2_ENST00000539519.1_Missense_Mutation_p.S555N	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	581	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTGCCCTCCAGTGCCCAACCT	0.502																																					p.S581N		.											.	RPRD2-23	0			c.G1742A						.						73	67	69					1																	150443166		1885	4123	6008	SO:0001583	missense	23248	exon11			CCTCCAGTGCCCA	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.1742G>A	1.37:g.150443166G>A	ENSP00000358064:p.Ser581Asn	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	80	40	NM_015203	0	0	0	0	0	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.080227	0.00375	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.43294	0.98;0.95;0.98	5.1	-9.01	0.00744	.	0.683997	0.14727	N	0.301988	T	0.03263	0.0095	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.26710	-1.0095	10	0.06494	T	0.89	-0.0665	13.0218	0.58791	0.2941:0.0:0.603:0.1029	.	555;581;555	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	N	555;555;581	ENSP00000383785:S555N;ENSP00000445482:S555N;ENSP00000358064:S581N	ENSP00000358064:S581N	S	+	2	0	RPRD2	148709790	0.000000	0.05858	0.112000	0.21494	0.104000	0.19210	-0.982000	0.03762	-2.208000	0.00740	-1.583000	0.00853	AGT	.		0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150443166	G	A	150443166	3	1	42	1	0	0	0	0	1	0	0	0	13662	1029	36	3	1784	3	RPRD2	1	150443166	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	110591978	150443166	98807455	5	9203											
INTS3	65123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	153721204	153721204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatatctggttggcagaaaGtgttctggatatcctgacag	11	6	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:153721204G>C	ENST00000318967.2	+	6	1125	c.557G>C	c.(556-558)aGt>aCt	p.S186T	INTS3_ENST00000435409.2_Missense_Mutation_p.S186T|INTS3_ENST00000512605.1_5'Flank|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_5'UTR|RP11-216N14.9_ENST00000434575.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	187					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGGCAGAAAGTGTTCTGGAT	0.463																																					p.S186T		.											.	INTS3-93	0			c.G557C						.						225	229	228					1																	153721204		2203	4300	6503	SO:0001583	missense	65123	exon6			CAGAAAGTGTTCT	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.557G>C	1.37:g.153721204G>C	ENSP00000318641:p.Ser186Thr	Somatic	129	2		WXS	Illumina GAIIx	Phase_I	197	55	NM_023015	0	0	0	0	0	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318503	0.40996	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.52	4.58	0.56647	.	0.092352	0.85682	D	0.000000	T	0.27798	0.0684	L	0.31578	0.945	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13255	-1.0516	9	0.40728	T	0.16	.	8.6983	0.34310	0.1649:0.0:0.8351:0.0	.	186	Q68E01-2	.	T	186	.	ENSP00000318641:S186T	S	+	2	0	INTS3	151987828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.509000	0.35780	2.873000	0.98535	0.563000	0.77884	AGT	.		0.463	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		C	153721204	G	C	153721204	3	2	42	1	0	0	0	0	1	0	0	0	7806	1029	36	3	579	3	INTS3	1	153721204	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3278038	153721204	95529417	6	9204											
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842250	154842250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgaagctgcGgaggctgaggctgcagcgag	18	10	0	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:154842250G>T	ENST00000271915.4	-	1	506	c.191C>A	c.(190-192)cCg>cAg	p.P64Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	64	Gln-rich.|Pro-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgaagctgcggaggctgagg	0.697																																					p.P64Q		.											.	KCNN3-91	0			c.C191A						.						5	4	5					1																	154842250		1971	3893	5864	SO:0001583	missense	3782	exon1			AGCTGCGGAGGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.191C>A	1.37:g.154842250G>T	ENSP00000271915:p.Pro64Gln	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	60	11	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	g	0.383	-0.927562	0.02377	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.56776	0.44	4.41	3.47	0.39725	.	4.657150	0.00567	N	0.000284	T	0.17916	0.0430	N	0.03608	-0.345	0.80722	D	1	.	.	.	.	.	.	T	0.04115	-1.0976	8	0.27082	T	0.32	-7.4946	9.6132	0.39676	0.0:0.0:0.7634:0.2366	.	.	.	.	Q	64;159	ENSP00000271915:P64Q	ENSP00000271915:P64Q	P	-	2	0	KCNN3	153108874	0.000000	0.05858	0.998000	0.56505	0.997000	0.91878	0.235000	0.17948	1.372000	0.46190	0.563000	0.77884	CCG	.		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154842250	G	T	154842250	3	4	42	1	0	0	0	0	1	0	0	0	8107	1116	39	2	2058	2	KCNN3	1	154842250	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1121046	154842250	94408371	7	9205											
HAPLN2	60484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	156593357	156593357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcttccacaaagcccaAggagacccaggtaagacccc	7	16	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:156593357A>G	ENST00000255039.1	+	3	482	c.75A>G	c.(73-75)caA>caG	p.Q25Q		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	25					cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAAAGCCCAAGGAGACCCAG	0.627																																					p.Q25Q		.											.	HAPLN2-90	0			c.A75G						.						60	50	54					1																	156593357		2203	4300	6503	SO:0001819	synonymous_variant	60484	exon3			AGCCCAAGGAGAC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.75A>G	1.37:g.156593357A>G		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	53	6	NM_021817	0	0	0	0	0	Q5T3J0	Silent	SNP	ENST00000255039.1	37	CCDS1148.1																																																																																			.		0.627	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		G	156593357	A	G	156593357	2	3	42	1	0	0	0	0	0	0	0	1	6982	69	3	4		4	HAPLN2	1	156593357	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	1751107	156593357	92657264	8	9206											
GPA33	10223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	167042639	167042639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccgtatgagtgaggaggaGcttatcccattgaataagtc	11	7	0	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:167042639G>T	ENST00000367868.3	-	2	524	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	61	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTGAGGAGGAGCTTATCCCAT	0.507																																					p.L61I		.											.	GPA33-90	0			c.C181A						.						169	143	152					1																	167042639		2203	4300	6503	SO:0001583	missense	10223	exon2			GGAGGAGCTTATC	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.181C>A	1.37:g.167042639G>T	ENSP00000356842:p.Leu61Ile	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	130	29	NM_005814	0	0	0	0	0	Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	8.623	0.891891	0.17613	.	.	ENSG00000143167	ENST00000367868	T	0.04317	3.65	5.26	4.34	0.51931	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.739002	0.13437	N	0.387996	T	0.04497	0.0123	L	0.45137	1.4	0.34369	D	0.691875	D	0.71674	0.998	D	0.69824	0.966	T	0.18335	-1.0340	10	0.07175	T	0.84	.	9.6052	0.39630	0.0967:0.0:0.9033:0.0	.	61	Q99795	GPA33_HUMAN	I	61	ENSP00000356842:L61I	ENSP00000356842:L61I	L	-	1	0	GPA33	165309263	1.000000	0.71417	0.992000	0.48379	0.005000	0.04900	2.852000	0.48310	1.200000	0.43188	0.655000	0.94253	CTC	.		0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		T	167042639	G	T	167042639	3	4	42	1	0	0	0	0	1	0	0	0	6612	971	34	3	802	3	GPA33	1	167042639	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	10449282	167042639	82207982	9	9207											
TNN	63923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175046673	175046673	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaaggagcaacaggTcactgtcagccacacctaca	8	14	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:175046673T>A	ENST00000239462.4	+	2	232	c.119T>A	c.(118-120)gTc>gAc	p.V40D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	40					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCAACAGGTCACTGTCAGC	0.612																																					p.V40D		.											.	TNN-138	0			c.T119A						.						79	60	66					1																	175046673		2203	4300	6503	SO:0001583	missense	63923	exon2			AACAGGTCACTGT	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.119T>A	1.37:g.175046673T>A	ENSP00000239462:p.Val40Asp	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	144	57	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078243	0.76528	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.36340	1.26	5.51	4.37	0.52481	.	0.318283	0.29424	N	0.012197	T	0.56307	0.1976	M	0.70595	2.14	0.53005	D	0.999965	D;D	0.76494	0.996;0.999	P;D	0.68943	0.806;0.961	T	0.58864	-0.7561	10	0.87932	D	0	.	11.6076	0.51041	0.1335:0.0:0.0:0.8665	.	40;40	B3KXB6;Q9UQP3	.;TENN_HUMAN	D	40	ENSP00000239462:V40D	ENSP00000239462:V40D	V	+	2	0	TNN	173313296	0.999000	0.42202	0.986000	0.45419	0.901000	0.52897	3.641000	0.54360	0.905000	0.36596	0.533000	0.62120	GTC	.		0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175046673	T	A	175046673	3	1	42	1	0	0	0	0	1	0	0	0	16370	1667	58	5	121	5	TNN	1	175046673	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	8004034	175046673	74203948	10	9208											
ZNF281	23528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	200378016	200378016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtctccgcaggtgatagGagcttcggaaagcagcacta	12	10	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:200378016G>A	ENST00000294740.3	-	2	942	c.818C>T	c.(817-819)tCc>tTc	p.S273F	ZNF281_ENST00000367352.3_Missense_Mutation_p.S237F|ZNF281_ENST00000367353.1_Missense_Mutation_p.S273F	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	273					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						CAGGTGATAGGAGCTTCGGAA	0.468																																					p.S273F		.											.	ZNF281-154	0			c.C818T						.						89	84	85					1																	200378016		2203	4300	6503	SO:0001583	missense	23528	exon2			TGATAGGAGCTTC	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.818C>T	1.37:g.200378016G>A	ENSP00000294740:p.Ser273Phe	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	179	35	NM_012482	0	0	0	0	0	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304822	0.60305	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.08008	3.14;3.14;3.14	5.64	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.52573	1.65	0.53005	D	0.999963	D;D	0.64830	0.994;0.994	P;P	0.60173	0.819;0.87	T	0.00706	-1.1601	10	0.72032	D	0.01	-2.9801	16.6577	0.85233	0.0:0.1299:0.8701:0.0	.	237;273	A6NF48;Q9Y2X9	.;ZN281_HUMAN	F	273;273;237	ENSP00000294740:S273F;ENSP00000356322:S273F;ENSP00000356321:S237F	ENSP00000294740:S273F	S	-	2	0	ZNF281	198644639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	1.359000	0.45940	0.655000	0.94253	TCC	.		0.468	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		A	200378016	G	A	200378016	3	1	42	1	0	0	0	0	1	0	0	0	17866	1174	41	3	1873	3	ZNF281	1	200378016	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	25331343	200378016	48872605	11	9209											
FLVCR1	28982	broad.mit.edu	37	chr1	213037122	213037122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagtacccaacacacagaAtgacacaaatctcctggctt	5	12	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:213037122A>G	ENST00000366971.4	+	2	992	c.794A>G	c.(793-795)aAt>aGt	p.N265S		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	265					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AACACACAGAATGACACAAAT	0.368																																					p.N265S	Esophageal Squamous(199;2235 2952 19233 26256)	.											.	FLVCR1-90	0			c.A794G						.						162	149	153					1																	213037122		2203	4300	6503	SO:0001583	missense	28982	exon2			CACAGAATGACAC	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.794A>G	1.37:g.213037122A>G	ENSP00000355938:p.Asn265Ser	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	103	4	NM_014053	0	0	0	0	0	Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.16|12.16	1.854670|1.854670	0.32791|0.32791	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|D	.|0.81821	.|-1.54	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.257024	.|0.43110	.|D	.|0.000609	T|T	0.68586|0.68586	0.3017|0.3017	N|N	0.20685|0.20685	0.6|0.6	0.33604|0.33604	D|D	0.602672|0.602672	.|B	.|0.21821	.|0.061	.|B	.|0.25759	.|0.063	T|T	0.69375|0.69375	-0.5162|-0.5162	5|10	.|0.16420	.|T	.|0.52	-34.2407|-34.2407	14.7671|14.7671	0.69648|0.69648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|265	.|Q9Y5Y0	.|FLVC1_HUMAN	V|S	111|265	.|ENSP00000355938:N265S	.|ENSP00000355938:N265S	M|N	+|+	1|2	0|0	FLVCR1|FLVCR1	211103745|211103745	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.825000|0.825000	0.46686|0.46686	8.681000|8.681000	0.91228|0.91228	2.080000|2.080000	0.62538|0.62538	0.455000|0.455000	0.32223|0.32223	ATG|AAT	.		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		G	213037122	A	G	213037122	3	3	42	1	0	0	0	0	1	0	0	0	5967	101	4	4	800	4	FLVCR1	1	213037122	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	12659106	213037122	36213499	12	9210											
CENPF	1063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	214816433	214816433	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataaggaaattcaagagctCgagcagttattaagttctga	9	5	2	2	rs200241672		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:214816433C>T	ENST00000366955.3	+	12	4920	c.4752C>T	c.(4750-4752)ctC>ctT	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		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)		TTCAAGAGCTCGAGCAGTTAT	0.443																																					p.L1584L	Colon(80;575 1284 11000 14801 43496)	.											.	CENPF-567	0			c.C4752T						.						53	56	55					1																	214816433		2203	4300	6503	SO:0001819	synonymous_variant	1063	exon12			AGAGCTCGAGCAG	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.4752C>T	1.37:g.214816433C>T		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	102	47	NM_016343	0	0	0	0	0	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																			C|0.999;G|0.001		0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214816433	C	T	214816433	2	4	42	1	0	0	0	0	0	0	0	1	3238	871	31	1		1	CENPF	1	214816433	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1779311	214816433	34434188	13	9211											
USH2A	7399	broad.mit.edu	37	chr1	216363571	216363571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaacttgcttacctgctgCtaaagtttgtcctgctcccg	7	12	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:216363571C>T	ENST00000307340.3	-	20	4776	c.4390G>A	c.(4390-4392)Gca>Aca	p.A1464T	USH2A_ENST00000366942.3_Missense_Mutation_p.A1464T|USH2A_ENST00000366943.2_Missense_Mutation_p.A1464T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1464	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTGCTGCTAAAGTTTGT	0.348										HNSCC(13;0.011)																											p.A1464T		.											.	USH2A-115	0			c.G4390A						.						95	92	93					1																	216363571		2203	4300	6503	SO:0001583	missense	7399	exon20			CTGCTGCTAAAGT	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.4390G>A	1.37:g.216363571C>T	ENSP00000305941:p.Ala1464Thr	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310510	0.60414	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.54279	0.58;0.58;0.58	5.22	4.3	0.51218	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.43416	U	0.000576	T	0.64091	0.2567	M	0.64997	1.995	0.36612	D	0.875271	P;D	0.67145	0.897;0.996	P;P	0.57204	0.624;0.815	T	0.71768	-0.4493	10	0.44086	T	0.13	.	15.2241	0.73336	0.0:0.7335:0.2665:0.0	.	1464;1464	O75445-2;O75445	.;USH2A_HUMAN	T	1464	ENSP00000305941:A1464T;ENSP00000355910:A1464T;ENSP00000355909:A1464T	ENSP00000305941:A1464T	A	-	1	0	USH2A	214430194	1.000000	0.71417	0.892000	0.35008	0.704000	0.40688	2.898000	0.48672	1.310000	0.45006	0.655000	0.94253	GCA	.		0.348	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216363571	C	T	216363571	3	4	42	1	0	0	0	0	1	0	0	0	17085	797	28	3	11444	3	USH2A	1	216363571	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1547138	216363571	32887050	14	9212											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228399799	228399799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacgcggaggccgcgtgCgccgagcaggcgccgcactt	18	14	0	0	rs11582369	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:228399799C>T	ENST00000422127.1	+	2	359	c.315C>T	c.(313-315)tgC>tgT	p.C105C	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.C105C|OBSCN_ENST00000570156.2_Silent_p.C105C|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	105					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)				AGGCCGCGTGCGCCGAGCAGG	0.736													C|||	254	0.0507188	0.0129	0.0591	5008	,	,		8585	0.121		0.0338	False		,,,				2504	0.0409				p.C105C		.											.	OBSCN-403	0			c.C315T						.	C	,	63,3177		0,63,1557	6	7	6		315,315	-4.9	0	1	dbSNP_120	6	259,6741		4,251,3245	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	4,314,4802	TT,TC,CC		3.7,1.9444,3.1445	,	105/7969,105/6621	228399799	322,9918	1620	3500	5120	SO:0001819	synonymous_variant	84033	exon2			CGCGTGCGCCGAG	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.315C>T	1.37:g.228399799C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	23	9	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.943;T|0.057		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228399799	C	T	228399799	2	4	42	1	0	0	0	0	0	0	0	1	10851	776	27	1		1	OBSCN	1	228399799	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	12036228	228399799	20850822	15	9213											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	64	53	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	42	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	104871	228504670	20745951	16	9214											
OBSCN	84033	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228563506	228563506	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggccctgtgacctacatTgtgcagtgcagcctagaagg	12	11	0	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:228563506T>C	ENST00000422127.1	+	98	22811	c.22767T>C	c.(22765-22767)atT>atC	p.I7589I	OBSCN_ENST00000366707.4_Silent_p.I5223I|OBSCN_ENST00000570156.2_Silent_p.I8546I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7589	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCTACATTGTGCAGTGCA	0.652																																					p.I8546I		.											.	OBSCN-403	0			c.T25638C						.						77	91	87					1																	228563506		2115	4225	6340	SO:0001819	synonymous_variant	84033	exon109			CTACATTGTGCAG	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.22767T>C	1.37:g.228563506T>C		Somatic	204	1		WXS	Illumina GAIIx	Phase_I	208	82	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	t	13.28	2.191277	0.38707	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.33	-3.85	0.04243	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.55673	-0.8104	4	.	.	.	.	11.9992	0.53220	0.0:0.3827:0.0:0.6173	.	.	.	.	R	2206	.	.	C	+	1	0	OBSCN	226630129	0.000000	0.05858	0.403000	0.26384	0.690000	0.40134	-3.403000	0.00483	-0.898000	0.03906	-0.392000	0.06488	TGT	.		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228563506	T	C	228563506	2	2	42	1	0	0	0	0	0	0	0	1	10851	1800	63	4		4	OBSCN	1	228563506	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	58836	228563506	20687115	17	9215											
PCNXL2	80003	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	233388165	233388165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgtacagatgtttcaggcCcactgatgacttgcaagaca	9	10	1	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:233388165C>G	ENST00000258229.9	-	7	2297	c.2063G>C	c.(2062-2064)gGg>gCg	p.G688A	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	688						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)				TGTTTCAGGCCCACTGATGAC	0.383																																					p.G688A		.											.	PCNXL2-91	0			c.G2063C						.						131	123	125					1																	233388165		1907	4123	6030	SO:0001583	missense	80003	exon7			TCAGGCCCACTGA	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.2063G>C	1.37:g.233388165C>G	ENSP00000258229:p.Gly688Ala	Somatic	229	0		WXS	Illumina GAIIx	Phase_I	237	15	NM_014801	0	0	0	0	0	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298658	0.81025	.	.	ENSG00000135749	ENST00000258229	T	0.37235	1.21	5.35	5.35	0.76521	.	.	.	.	.	T	0.48714	0.1515	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.47195	-0.9136	9	0.56958	D	0.05	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	688	A6NKB5	PCX2_HUMAN	A	688	ENSP00000258229:G688A	ENSP00000258229:G688A	G	-	2	0	PCNXL2	231454788	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.377000	0.59562	2.666000	0.90696	0.557000	0.71058	GGG	.		0.383	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		G	233388165	C	G	233388165	3	3	42	1	0	0	0	0	1	0	0	0	11631	623	22	3	4462	3	PCNXL2	1	233388165	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	4824659	233388165	15862456	18	9216											
HEATR1	55127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	236722384	236722384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcaggggattgcccaCcagccctctgatcacaggaa	12	12	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr1:236722384C>T	ENST00000366582.3	-	35	4936	c.4822G>A	c.(4822-4824)Gtg>Atg	p.V1608M	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1527M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1608					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGATTGCCCACCAGCCCTCTG	0.408																																					p.V1608M		.											.	HEATR1-93	0			c.G4822A						.						98	93	94					1																	236722384		2203	4300	6503	SO:0001583	missense	55127	exon35			TGCCCACCAGCCC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4822G>A	1.37:g.236722384C>T	ENSP00000355541:p.Val1608Met	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	59	23	NM_018072	0	0	0	0	0	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981976	0.34942	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64991	-0.13;-0.13	5.79	0.265	0.15612	Armadillo-like helical (1);Armadillo-type fold (1);	0.261301	0.41001	D	0.000978	T	0.29126	0.0724	N	0.02391	-0.57	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.02431	-1.1160	10	0.25751	T	0.34	.	6.8994	0.24275	0.0995:0.1504:0.6342:0.1159	.	1527;1608	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	M	1608;1527	ENSP00000355541:V1608M;ENSP00000355540:V1527M	ENSP00000355540:V1527M	V	-	1	0	HEATR1	234789007	0.873000	0.30073	0.900000	0.35374	0.980000	0.70556	1.014000	0.29950	0.330000	0.23485	0.650000	0.86243	GTG	.		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236722384	C	T	236722384	3	4	42	1	0	0	0	0	1	0	0	0	7054	507	18	3	1656	3	HEATR1	1	236722384	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	3334219	236722384	12528237	19	9217											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	42	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10		7005369	236194004	20	9218											
CPSF3	51692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	9580674	9580674	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattccaatatactatgcatCatctttggccaagaagtgta	6	9	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:9580674C>T	ENST00000238112.3	+	8	1021	c.815C>T	c.(814-816)tCa>tTa	p.S272L	CPSF3_ENST00000460593.1_Missense_Mutation_p.S235L	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	272					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TACTATGCATCATCTTTGGCC	0.383																																					p.S272L	Colon(194;1259 2048 3845 5218 19985)	.											.	CPSF3-153	0			c.C815T						.						193	167	175					2																	9580674		2203	4300	6503	SO:0001583	missense	51692	exon8			ATGCATCATCTTT	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.815C>T	2.37:g.9580674C>T	ENSP00000238112:p.Ser272Leu	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	142	45	NM_016207	0	0	0	0	0	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225669	0.95173	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.53857	0.6;0.6	5.36	5.36	0.76844	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.97110	0.84;1.0	D	0.88189	0.2876	10	0.66056	D	0.02	-13.3774	19.5055	0.95113	0.0:1.0:0.0:0.0	.	272;272	E7ER23;Q9UKF6	.;CPSF3_HUMAN	L	272;272;235	ENSP00000238112:S272L;ENSP00000418957:S235L	ENSP00000238112:S272L	S	+	2	0	CPSF3	9498125	1.000000	0.71417	0.601000	0.28877	0.995000	0.86356	7.726000	0.84824	2.672000	0.90937	0.551000	0.68910	TCA	.		0.383	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		T	9580674	C	T	9580674	3	4	42	1	0	0	0	0	1	0	0	0	3833	838	29	3	845	3	CPSF3	2	9580674	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2575305	9580674	233618699	21	9219											
CCDC121	79635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27850291	27850291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggactttctttgtctcctCctgtaatgtctgtatttctt	6	9	4	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:27850291C>T	ENST00000324364.3	-	2	556	c.376G>A	c.(376-378)Gag>Aag	p.E126K	GPN1_ENST00000264718.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000424214.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.E288K|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000515877.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	126										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TTTGTCTCCTCCTGTAATGTC	0.438																																					p.E288K		.											.	CCDC121-68	0			c.G862A						.						141	148	146					2																	27850291		2203	4300	6503	SO:0001583	missense	79635	exon2			TCTCCTCCTGTAA	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.376G>A	2.37:g.27850291C>T	ENSP00000339087:p.Glu126Lys	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	48	13	NM_001142683	0	0	0	0	0	B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296536	0.60086	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.31247	1.5;1.5	5.56	-1.66	0.08265	.	2.721120	0.01102	N	0.005390	T	0.21267	0.0512	L	0.28274	0.84	0.09310	N	1	B	0.20550	0.046	B	0.21360	0.034	T	0.12656	-1.0539	10	0.26408	T	0.33	-37.451	5.7533	0.18158	0.0:0.438:0.1524:0.4096	.	126	Q6ZUS5	CC121_HUMAN	K	126;288	ENSP00000339087:E126K;ENSP00000412150:E288K	ENSP00000339087:E126K	E	-	1	0	CCDC121	27703795	0.000000	0.05858	0.005000	0.12908	0.718000	0.41266	-1.393000	0.02521	-0.238000	0.09724	0.591000	0.81541	GAG	.		0.438	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		T	27850291	C	T	27850291	3	4	42	1	0	0	0	0	1	0	0	0	2764	864	30	3	464	3	CCDC121	2	27850291	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	18269617	27850291	215349082	22	9220											
FAM179A	165186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	29274646	29274646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcctcagtttacccccGgaagcctcaagctgtagagc	12	13	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:29274646G>A	ENST00000379558.4	+	20	3098	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	FAM179A_ENST00000403861.2_Missense_Mutation_p.R861Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	916										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						GTTTACCCCCGGAAGCCTCAA	0.597																																					p.R916Q		.											.	FAM179A-26	0			c.G2747A						.						13	15	14					2																	29274646		2067	4179	6246	SO:0001583	missense	165186	exon20			ACCCCCGGAAGCC	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.2747G>A	2.37:g.29274646G>A	ENSP00000368876:p.Arg916Gln	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	170	16	NM_199280	0	0	0	0	0	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	8.087	0.773687	0.16051	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.20598	2.06;2.06	5.67	-0.488	0.12056	Armadillo-type fold (1);	0.327353	0.26241	N	0.025502	T	0.11281	0.0275	N	0.20574	0.59	0.09310	N	1	B;B	0.28636	0.218;0.139	B;B	0.23852	0.049;0.013	T	0.20273	-1.0280	10	0.36615	T	0.2	.	10.5535	0.45103	0.3994:0.0:0.6006:0.0	.	861;916	F8W8E4;Q6ZUX3	.;F179A_HUMAN	Q	916;861	ENSP00000368876:R916Q;ENSP00000384699:R861Q	ENSP00000368876:R916Q	R	+	2	0	FAM179A	29128150	0.008000	0.16893	0.001000	0.08648	0.127000	0.20565	0.540000	0.23191	-0.133000	0.11537	-0.808000	0.03180	CGG	.		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		A	29274646	G	A	29274646	3	1	42	1	0	0	0	0	1	0	0	0	5524	1116	39	1	2821	1	FAM179A	2	29274646	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1424355	29274646	213924727	23	9221											
C2orf71	388939	broad.mit.edu;bcgsc.ca	37	chr2	29296788	29296788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgtgtcttgaacggaaTatccttagccatgtggcttt	9	10	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:29296788T>C	ENST00000331664.5	-	1	339	c.340A>G	c.(340-342)Att>Gtt	p.I114V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	114					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						TTGAACGGAATATCCTTAGCC	0.458																																					p.I114V		.											.	C2orf71-91	0			c.A340G						.						274	255	261					2																	29296788		1965	4163	6128	SO:0001583	missense	388939	exon1			ACGGAATATCCTT		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.340A>G	2.37:g.29296788T>C	ENSP00000332809:p.Ile114Val	Somatic	263	1		WXS	Illumina GAIIx	Phase_I	233	10	NM_001029883	0	0	0	0	0		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	3.393	-0.123846	0.06795	.	.	ENSG00000179270	ENST00000331664	T	0.19394	2.15	5.52	-6.62	0.01813	.	0.972002	0.08448	N	0.944316	T	0.15998	0.0385	L	0.53249	1.67	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.28964	-1.0027	10	0.42905	T	0.14	1.9227	6.3332	0.21282	0.0:0.2797:0.3494:0.3709	.	114	A6NGG8	CB071_HUMAN	V	114	ENSP00000332809:I114V	ENSP00000332809:I114V	I	-	1	0	C2orf71	29150292	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.008000	0.12788	-1.518000	0.01778	-0.366000	0.07423	ATT	.		0.458	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		C	29296788	T	C	29296788	3	2	42	1	0	0	0	0	1	0	0	0	2198	1406	49	4	3534	4	C2orf71	2	29296788	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	22142	29296788	213902585	24	9222											
PLEKHH2	130271	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	43984346	43984346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaactctaaagcaagTcatagagaaattttatccta	5	7	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:43984346T>A	ENST00000282406.4	+	26	3994	c.3884T>A	c.(3883-3885)gTc>gAc	p.V1295D		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1295	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTAAAGCAAGTCATAGAGAAA	0.368																																					p.V1295D		.											.	PLEKHH2-92	0			c.T3884A						.						83	93	90					2																	43984346		2203	4300	6503	SO:0001583	missense	130271	exon26			AGCAAGTCATAGA	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3884T>A	2.37:g.43984346T>A	ENSP00000282406:p.Val1295Asp	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	108	6	NM_172069	0	0	0	0	0	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591816	0.46214	.	.	ENSG00000152527	ENST00000282406	T	0.71817	-0.6	4.93	2.57	0.30868	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.126827	0.52532	D	0.000061	T	0.78253	0.4254	M	0.73217	2.22	0.80722	D	1	P	0.37594	0.601	P	0.55455	0.776	T	0.76575	-0.2909	10	0.59425	D	0.04	-1.5446	7.3493	0.26680	0.0:0.2424:0.0:0.7576	.	1295	Q8IVE3	PKHH2_HUMAN	D	1295	ENSP00000282406:V1295D	ENSP00000282406:V1295D	V	+	2	0	PLEKHH2	43837850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.104000	0.50306	0.729000	0.32403	0.533000	0.62120	GTC	.		0.368	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43984346	T	A	43984346	3	1	42	1	0	0	0	0	1	0	0	0	12116	1667	58	5	3982	5	PLEKHH2	2	43984346	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	14687558	43984346	199215027	25	9223											
SRBD1	55133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	45801796	45801796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcaagcgtgtctttgTctttagcaatcatatctgct	8	8	5	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:45801796T>C	ENST00000263736.4	-	8	1201	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	380					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)			CGTGTCTTTGTCTTTAGCAAT	0.388																																					p.D380G		.											.	SRBD1-90	0			c.A1139G						.						135	131	132					2																	45801796		2203	4300	6503	SO:0001583	missense	55133	exon8			TCTTTGTCTTTAG	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.1139A>G	2.37:g.45801796T>C	ENSP00000263736:p.Asp380Gly	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	89	21	NM_018079	0	0	0	0	0	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200072	0.79015	.	.	ENSG00000068784	ENST00000263736	T	0.50548	0.74	5.06	5.06	0.68205	Tex-like protein, N-terminal (1);Tex-like domain (1);	0.055265	0.64402	D	0.000001	T	0.68613	0.3020	M	0.86864	2.845	0.80722	D	1	D	0.56968	0.978	P	0.58331	0.837	T	0.76055	-0.3099	10	0.87932	D	0	.	14.4616	0.67453	0.0:0.0:0.0:1.0	.	380	Q8N5C6	SRBD1_HUMAN	G	380	ENSP00000263736:D380G	ENSP00000263736:D380G	D	-	2	0	SRBD1	45655300	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.296000	0.65698	1.911000	0.55334	0.459000	0.35465	GAC	.		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		C	45801796	T	C	45801796	3	2	42	1	0	0	0	0	1	0	0	0	15180	1667	58	4	1904	4	SRBD1	2	45801796	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1817450	45801796	197397577	26	9224											
INO80B	83444	hgsc.bcm.edu	37	chr2	74684659	74684659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctcaccaagactgcgGcgaccagtgggcggggaggc	17	13	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:74684659G>A	ENST00000233331.7	+	5	833	c.739G>A	c.(739-741)Gcg>Acg	p.A247T	WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000409917.1_3'UTR|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	247					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CAAGACTGCGGCGACCAGTgg	0.756																																					p.A247T		.											.	INO80B-226	0			c.G739A						.						3	4	4					2																	74684659		1798	3588	5386	SO:0001583	missense	83444	exon5			ACTGCGGCGACCA	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.739G>A	2.37:g.74684659G>A	ENSP00000233331:p.Ala247Thr	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	18	6	NM_031288	0	0	0	0	0		Missense_Mutation	SNP	ENST00000233331.7	37	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871240	0.72065	.	.	ENSG00000115274	ENST00000233331	T	0.47177	0.85	4.53	4.53	0.55603	PAPA-1-like conserved region (1);	0.231094	0.41712	D	0.000832	T	0.34803	0.0910	L	0.34521	1.04	0.80722	D	1	P;B;B	0.46064	0.872;0.348;0.348	B;B;B	0.42827	0.399;0.086;0.086	T	0.04522	-1.0945	10	0.23302	T	0.38	-15.7951	8.3904	0.32524	0.1049:0.0:0.8951:0.0	.	265;232;247	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	T	247	ENSP00000233331:A247T	ENSP00000233331:A247T	A	+	1	0	INO80B	74538167	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	2.829000	0.48128	2.361000	0.80049	0.462000	0.41574	GCG	.		0.756	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		A	74684659	G	A	74684659	3	1	42	1	0	0	0	0	1	0	0	0	7774	1203	42	3	757	3	INO80B	2	74684659	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	28882863	74684659	168514714	27	9225											
KRCC1	51315	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	88327571	88327571	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcttagaccgctcctcctctGatttttctctgccttcctct	5	16	3	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:88327571G>C	ENST00000347055.3	-	4	905	c.512C>G	c.(511-513)tCa>tGa	p.S171*		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	171	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTCCTCCTCTGATTTTTCTCT	0.423																																					p.S171X		.											.	KRCC1-69	0			c.C512G						.						120	121	121					2																	88327571		2203	4300	6503	SO:0001587	stop_gained	51315	exon4			TCCTCTGATTTTT	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.512C>G	2.37:g.88327571G>C	ENSP00000340083:p.Ser171*	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	52	20	NM_016618	0	0	0	0	0	Q3B7J7	Nonsense_Mutation	SNP	ENST00000347055.3	37	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831656	0.71258	.	.	ENSG00000172086	ENST00000347055	.	.	.	5.61	3.71	0.42584	.	0.951096	0.08731	N	0.902038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-10.1463	4.1717	0.10332	0.0854:0.1556:0.5982:0.1608	.	.	.	.	X	171	.	ENSP00000340083:S171X	S	-	2	0	KRCC1	88108686	0.001000	0.12720	0.002000	0.10522	0.214000	0.24535	0.500000	0.22562	1.368000	0.46115	0.650000	0.86243	TCA	.		0.423	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		C	88327571	G	C	88327571	4	2	42	1	0	0	0	0	0	1	0	0	8468	1294	45	3	271	3	KRCC1	2	88327571	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	13642912	88327571	154871802	28	9226											
CNNM4	26504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	97475185	97475185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagctgcctgtggtggaCgagaccacaactcttctcaa	10	12	3	2	rs187426899		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:97475185C>T	ENST00000377075.2	+	7	2357	c.2259C>T	c.(2257-2259)gaC>gaT	p.D753D	RP11-353K11.1_ENST00000608609.1_lincRNA|CNNM4_ENST00000540067.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	753					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGTGGTGGACGAGACCACAA	0.602													C|||	1	0.000199681	0	0	5008	,	,		20392	0		0.001	False		,,,				2504	0				p.D753D		.											.	CNNM4-154	0			c.C2259T						.						120	94	103					2																	97475185		2203	4300	6503	SO:0001819	synonymous_variant	26504	exon7			GGTGGACGAGACC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2259C>T	2.37:g.97475185C>T		Somatic	178	0		WXS	Illumina GAIIx	Phase_I	203	86	NM_020184	0	0	0	0	0	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	CCDS2024.2																																																																																			C|0.999;T|0.000		0.602	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		T	97475185	C	T	97475185	2	4	42	1	0	0	0	0	0	0	0	1	3622	535	19	1		1	CNNM4	2	97475185	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	9147614	97475185	145724188	29	9227											
PDCL3	79031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	101192892	101192892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaagaagccgattgaagaCgtgttgctgtcctcagtgcg	12	10	1	3	rs145184150	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:101192892C>T	ENST00000264254.6	+	6	1032	c.654C>T	c.(652-654)gaC>gaT	p.D218D	snoU13_ENST00000458824.1_RNA	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	218	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						CGATTGAAGACGTGTTGCTGT	0.473													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		16105	0		0	False		,,,				2504	0				p.D218D		.											.	PDCL3-90	0			c.C654T						.	C		10,4396		0,10,2193	90	82	85		654	-0.1	0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	PDCL3	NM_024065.4		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		218/240	101192892	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	79031	exon6			TGAAGACGTGTTG	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.654C>T	2.37:g.101192892C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	84	14	NM_024065	0	0	0	0	0	B2RA00|Q53S68	Silent	SNP	ENST00000264254.6	37	CCDS33261.1																																																																																			C|0.999;T|0.001		0.473	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		T	101192892	C	T	101192892	2	4	42	1	0	0	0	0	0	0	0	1	11667	535	19	1		1	PDCL3	2	101192892	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	3717707	101192892	142006481	30	9228											
POU3F3	5455	hgsc.bcm.edu	37	chr2	105472055	105472055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcggacgcggcaggggcTggcggcggcgggggtggcgg	24	11	0	0	rs186512421		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:105472055T>C	ENST00000361360.2	+	1	87	c.87T>C	c.(85-87)gcT>gcC	p.A29A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	29	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						cggcaggggctggcggcggcg	0.806																																					p.A29A		.											.	POU3F3-45	0			c.T87C						.						1	1	1					2																	105472055		328	609	937	SO:0001819	synonymous_variant	5455	exon1			AGGGGCTGGCGGC		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.87T>C	2.37:g.105472055T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_006236	0	0	0	0	0	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																			T|0.299;C|0.701		0.806	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			C	105472055	T	C	105472055	2	2	42	1	0	0	0	0	0	0	0	1	12315	1567	55	4		4	POU3F3	2	105472055	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	4279163	105472055	137727318	31	9229											
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682226	106682226	+	Silent	SNP	T	T	C													tcgcgccccgccgccatggcTgcctcccccgcgcggcctgc					rs4271786|rs543094154	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:106682226T>C	ENST00000238044.3	+	1	115	c.6T>C	c.(4-6)gcT>gcC	p.A2A	C2orf40_ENST00000489174.1_Intron|C2orf40_ENST00000409944.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	2					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CCGCCATGGCTGCCTCCCCCG	0.766													C|||	1272	0.253994	0.2753	0.1369	5008	,	,		11771	0.2411		0.2227	False		,,,				2504	0.3538				p.A2A		.											.	C2orf40-90	0			c.T6C						.	C		520,2666		23,474,1096	2	3	3		6	1	0.3	2	dbSNP_111	3	871,5647		54,763,2442	no	coding-synonymous	C2orf40	NM_032411.2		77,1237,3538	CC,CT,TT		13.363,16.3214,14.3343		2/149	106682226	1391,8313	1593	3259	4852	SO:0001819	synonymous_variant	84417	exon1			CATGGCTGCCTCC	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.6T>C	2.37:g.106682226T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			T|0.765;C|0.235		0.766	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		C	106682226	T	C	106682226	2	2	42	1	0	0	0	0	0	0	0	1	2172	1567	55	4		4	C2orf40	2	106682226	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1210171	106682226	136517147	32	9230	87	2									
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682235	106682235	+	Silent	SNP	C	C	G													gccgccatggctgcctccccCgcgcggcctgctgtcctggc					rs4266035	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:106682235C>G	ENST00000238044.3	+	1	124	c.15C>G	c.(13-15)ccC>ccG	p.P5P	C2orf40_ENST00000489174.1_Intron|C2orf40_ENST00000409944.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	5					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTGCCTCCCCCGCGCGGCCTG	0.751													C|||	1156	0.230831	0.18	0.1239	5008	,	,		11837	0.2391		0.2187	False		,,,				2504	0.3793				p.P5P		.											.	C2orf40-90	0			c.C15G						.						2	3	3					2																	106682235		1650	3370	5020	SO:0001819	synonymous_variant	84417	exon1			CTCCCCCGCGCGG	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.15C>G	2.37:g.106682235C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			C|0.795;G|0.205		0.751	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		G	106682235	C	G	106682235	2	3	42	1	0	0	0	0	0	0	0	1	2172	639	23	2		2	C2orf40	2	106682235	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	9	106682235	136517138	33	9231	87	2									
MARCO	8685	broad.mit.edu	37	chr2	119739941	119739941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacttccagggagccccGggagtccaggagccacaggc	15	14	0	0	rs202171758		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:119739941G>T	ENST00000327097.4	+	12	1153	c.1018G>T	c.(1018-1020)Ggg>Tgg	p.G340W	MARCO_ENST00000541757.1_Missense_Mutation_p.G262W	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	340	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						AGGGAGCCCCGGGAGTCCAGG	0.592																																					p.G340W	GBM(8;18 374 7467 11269 32796)	.											.	MARCO-95	0			c.G1018T						.	G	TRP/GLY	0,4406		0,0,2203	133	149	144		1018	4.8	0.1	2		144	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MARCO	NM_006770.3	184	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	340/521	119739941	2,13004	2203	4300	6503	SO:0001583	missense	8685	exon12			AGCCCCGGGAGTC	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.1018G>T	2.37:g.119739941G>T	ENSP00000318916:p.Gly340Trp	Somatic	114	2		WXS	Illumina GAIIx	Phase_I	128	4	NM_006770	0	0	0	0	0	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736658	0.49045	0.0	2.33E-4	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99637	-6.29;-6.11	4.83	4.83	0.62350	.	0.070096	0.56097	D	0.000028	D	0.99729	0.9894	H	0.96111	3.77	0.29104	N	0.881272	D	0.89917	1.0	D	0.97110	1.0	D	0.97041	0.9757	9	.	.	.	.	13.303	0.60336	0.0:0.0:1.0:0.0	.	340	Q9UEW3	MARCO_HUMAN	W	340;340;262	ENSP00000318916:G340W;ENSP00000441769:G262W	.	G	+	1	0	MARCO	119456411	0.997000	0.39634	0.115000	0.21578	0.672000	0.39443	4.843000	0.62838	2.496000	0.84212	0.563000	0.77884	GGG	.		0.592	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		T	119739941	G	T	119739941	3	4	42	1	0	0	0	0	1	0	0	0	9349	1116	39	2	1064	2	MARCO	2	119739941	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	13057706	119739941	123459432	34	9232											
NR4A2	4929	bcgsc.ca	37	chr2	157185931	157185931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcccctcgttggagggGgagccccgcgacggcggtga	17	14	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:157185931G>T	ENST00000339562.4	-	3	1130	c.768C>A	c.(766-768)tcC>tcA	p.S256S	NR4A2_ENST00000409108.2_Silent_p.S256S|NR4A2_ENST00000429376.1_Silent_p.S193S|NR4A2_ENST00000409572.1_Silent_p.S256S|NR4A2_ENST00000426264.1_Silent_p.S193S|NR4A2_ENST00000539077.1_Silent_p.S267S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	256					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGTTGGAGGGGGAGCCCCGCG	0.677																																					p.S256S		.											.	NR4A2-189	0			c.C768A						.						19	20	20					2																	157185931		2202	4297	6499	SO:0001819	synonymous_variant	4929	exon3			GGAGGGGGAGCCC	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.768C>A	2.37:g.157185931G>T		Somatic	34	1		WXS	Illumina GAIIx	Phase_I	67	36	NM_006186	0	0	0	0	0	Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	CCDS2201.1																																																																																			.		0.677	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			T	157185931	G	T	157185931	2	4	42	1	0	0	0	0	0	0	0	1	10672	1219	43	3		3	NR4A2	2	157185931	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	37445990	157185931	86013442	35	9233											
LY75	4065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	160676404	160676404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtatatgacagtgggGtcttatcaaaccacataaga	9	6	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:160676404G>T	ENST00000263636.4	-	29	4013	c.3986C>A	c.(3985-3987)aCc>aAc	p.T1329N	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T1329N|LY75_ENST00000554112.1_Missense_Mutation_p.T1329N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1329N|LY75_ENST00000553424.1_Missense_Mutation_p.T1329N	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1329	C-type lectin 8. {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)		TGACAGTGGGGTCTTATCAAA	0.348																																					p.T1329N		.											.	LY75-90	0			c.C3986A						.						64	67	66					2																	160676404		2202	4300	6502	SO:0001583	missense	4065	exon29			AGTGGGGTCTTAT	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.3986C>A	2.37:g.160676404G>T	ENSP00000263636:p.Thr1329Asn	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	54	19	NM_002349	0	0	0	0	0	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031329	0.75504	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.65	5.65	0.86999	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.43100	0.1232	M	0.89715	3.055	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.43376	-0.9395	9	0.44086	T	0.13	-13.7212	19.3228	0.94248	0.0:0.0:1.0:0.0	.	1329;1329;1329	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	N	1329	ENSP00000451511:T1329N;ENSP00000451446:T1329N;ENSP00000263636:T1329N;ENSP00000423463:T1329N;ENSP00000421035:T1329N	ENSP00000423463:T1329N	T	-	2	0	LY75;LY75-CD302	160384650	1.000000	0.71417	0.966000	0.40874	0.801000	0.45260	4.832000	0.62759	2.656000	0.90262	0.591000	0.81541	ACC	.		0.348	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160676404	G	T	160676404	3	4	42	1	0	0	0	0	1	0	0	0	9135	1261	44	3	1210	3	LY75	2	160676404	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3490473	160676404	82522969	36	9234											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179445121	179445121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaagatatattttcctgCatcatatttgttcacatttt	5	6	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:179445121C>A	ENST00000591111.1	-	267	62286	c.62062G>T	c.(62062-62064)Gca>Tca	p.A20688S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A13264S|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13389S|TTN_ENST00000342175.6_Missense_Mutation_p.A13456S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A22329S|TTN_ENST00000342992.6_Missense_Mutation_p.A19761S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20688					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)			TATTTTCCTGCATCATATTTG	0.353																																					p.A22329S		.											.	TTN-636	0			c.G66985T						.						165	152	156					2																	179445121		1860	4096	5956	SO:0001583	missense	7273	exon317			TTCCTGCATCATA	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.62062G>T	2.37:g.179445121C>A	ENSP00000465570:p.Ala20688Ser	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	93	34	NM_001267550	0	0	0	0	0	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	13.48	2.249489	0.39797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.45	4.56	0.56223	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48259	0.1490	N	0.17764	0.52	0.58432	D	0.999999	P;P;P;B	0.36753	0.568;0.568;0.568;0.414	B;B;B;B	0.33568	0.166;0.166;0.166;0.119	T	0.54702	-0.8254	9	0.87932	D	0	.	15.754	0.78011	0.1372:0.8628:0.0:0.0	.	13264;13389;13456;20688	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	19761;13264;13456;13389;13262	ENSP00000343764:A19761S;ENSP00000434586:A13264S;ENSP00000340554:A13456S;ENSP00000352154:A13389S	ENSP00000340554:A13456S	A	-	1	0	TTN	179153367	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.936000	0.63506	1.274000	0.44362	0.563000	0.77884	GCA	.		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179445121	C	A	179445121	3	1	42	1	0	0	0	0	1	0	0	0	16784	710	25	3	41178	3	TTN	2	179445121	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	18768717	179445121	63754252	37	9235											
MYL1	4632	broad.mit.edu	37	chr2	211179635	211179635	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagttcatccatttagttacCttaatggcagagaggtcaat	8	8	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:211179635C>G	ENST00000352451.3	-	1	279	c.132G>C	c.(130-132)aaG>aaC	p.K44N		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	44					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		ATTTAGTTACCTTAATGGCAG	0.502																																					p.K44N		.											.	MYL1-91	0			c.G132C						.						142	156	152					2																	211179635		2203	4300	6503	SO:0001630	splice_region_variant	4632	exon1			AGTTACCTTAATG		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.132+1G>C	2.37:g.211179635C>G		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	196	6	NM_079420	0	0	0	0	0	B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725033	0.48833	.	.	ENSG00000168530	ENST00000352451	D	0.86097	-2.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.79123	2.44	0.52501	D	0.999952	P	0.40638	0.725	B	0.31751	0.135	D	0.85312	0.1079	9	.	.	.	.	18.7703	0.91888	0.0:1.0:0.0:0.0	.	44	P05976	MYL1_HUMAN	N	44	ENSP00000307280:K44N	.	K	-	3	2	MYL1	210887880	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.295000	0.65692	2.511000	0.84671	0.655000	0.94253	AAG	.		0.502	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420	Missense_Mutation	G	211179635	C	G	211179635	5	3	42	1	0	0	0	0	0	0	1	0	10081	695	24	3	512	3	MYL1	2	211179635	Splice_Site	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	31734514	211179635	32019738	38	9236											
DNAJB2	3300	broad.mit.edu;bcgsc.ca	37	chr2	220149572	220149572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggtgggcgggaggcaCagcaccgacggcaggggcgg	21	12	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:220149572C>G	ENST00000336576.5	+	9	1126	c.838C>G	c.(838-840)Cag>Gag	p.Q280E	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	280					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGGAGGCACAGCACCGACG	0.662																																					p.Q280E		.											.	DNAJB2-226	0			c.C838G						.						20	21	21					2																	220149572		2198	4299	6497	SO:0001583	missense	3300	exon9			GAGGCACAGCACC		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.838C>G	2.37:g.220149572C>G	ENSP00000338019:p.Gln280Glu	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	166	12	NM_006736	0	0	0	0	0	A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	C	8.703	0.910301	0.17833	.	.	ENSG00000135924	ENST00000336576	T	0.61274	0.12	4.25	4.25	0.50352	.	7739.210000	0.00166	N	0.000000	T	0.50803	0.1637	L	0.27053	0.805	0.27652	N	0.947364	B	0.19817	0.039	B	0.16289	0.015	T	0.39057	-0.9632	10	0.62326	D	0.03	.	11.1731	0.48584	0.3074:0.6926:0.0:0.0	.	280	P25686	DNJB2_HUMAN	E	280	ENSP00000338019:Q280E	ENSP00000338019:Q280E	Q	+	1	0	DNAJB2	219857816	0.509000	0.26163	0.600000	0.28864	0.814000	0.46013	1.749000	0.38319	2.397000	0.81536	0.456000	0.33151	CAG	.		0.662	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			G	220149572	C	G	220149572	3	3	42	1	0	0	0	0	1	0	0	0	4634	479	17	3	868	3	DNAJB2	2	220149572	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	8969937	220149572	23049801	39	9237											
SPEG	10290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220354432	220354432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccagtgtcttcctctActcctgtgtatgtggtgact	8	10	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr2:220354432A>G	ENST00000312358.7	+	36	8824	c.8692A>G	c.(8692-8694)Act>Gct	p.T2898A	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2898	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCTTCCTCTACTCCTGTGTA	0.597																																					p.T2898A		.											.	SPEG-383	0			c.A8692G						.						143	148	147					2																	220354432		1976	4143	6119	SO:0001583	missense	10290	exon36			TCCTCTACTCCTG	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.8692A>G	2.37:g.220354432A>G	ENSP00000311684:p.Thr2898Ala	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	65	39	NM_005876	0	0	0	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	0.511	-0.866717	0.02590	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63744	-0.06	4.61	0.882	0.19172	.	1.226660	0.06124	N	0.669391	T	0.37293	0.0998	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	10	0.13853	T	0.58	.	5.6255	0.17480	0.481:0.3423:0.1767:0.0	.	2898	Q15772	SPEG_HUMAN	A	2898	ENSP00000311684:T2898A	ENSP00000265327:T2898A	T	+	1	0	SPEG	220062676	0.004000	0.15560	0.294000	0.24946	0.185000	0.23345	0.339000	0.19875	0.301000	0.22738	-0.560000	0.04181	ACT	.		0.597	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		G	220354432	A	G	220354432	3	3	42	1	0	0	0	0	1	0	0	0	15083	391	14	4	8846	4	SPEG	2	220354432	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	204860	220354432	22844941	40	9238											
ARPP21	10777	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	35730810	35730810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtttcagattgcagccaaGaatacacggattctacaggc	9	9	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:35730810G>T	ENST00000187397.4	+	7	874	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	ARPP21_ENST00000444190.1_Nonsense_Mutation_p.E140*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.E140*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.E140*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.E140*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	140					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTGCAGCCAAGAATACACGGA	0.403																																					p.E140X		.											.	ARPP21-93	0			c.G418T						.						83	81	82					3																	35730810		2203	4300	6503	SO:0001587	stop_gained	10777	exon6			AGCCAAGAATACA	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.418G>T	3.37:g.35730810G>T	ENSP00000187397:p.Glu140*	Somatic	236	2		WXS	Illumina GAIIx	Phase_I	276	83	NM_001267619	0	0	0	0	0	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	41	9.033955	0.99042	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.6575	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	140	.	ENSP00000187397:E140X	E	+	1	0	ARPP21	35705814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAA	.		0.403	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35730810	G	T	35730810	4	4	42	1	0	0	0	0	0	1	0	0	979	943	33	3	449	3	ARPP21	3	35730810	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		35730810	162291620	41	9239											
MLH1	4292	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	37055929	37055929	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcttttctaatagagaactGatagaaattggatgtgagga	10	4	2	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:37055929G>C	ENST00000231790.2	+	9	900	c.684G>C	c.(682-684)ctG>ctC	p.L228L	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Silent_p.L130L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	228			Missing (in HNPCC2).		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						ATAGAGAACTGATAGAAATTG	0.328		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.L228L		.	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	.	MLH1-2559	1	Whole gene deletion(1)	ovary(1)	c.G684C						.						51	51	51					3																	37055929		2203	4300	6503	SO:0001819	synonymous_variant	4292	exon9	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	AGAACTGATAGAA	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.684G>C	3.37:g.37055929G>C		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	115	9	NM_000249	0	0	0	0	0	B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880173	0.17467	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.7	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4834	7.2062	0.25909	0.1789:0.2314:0.5898:0.0	.	.	.	.	S	220	.	.	X	+	2	2	MLH1	37030933	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.723000	0.38053	0.646000	0.30693	0.655000	0.94253	TGA	.		0.328	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		C	37055929	G	C	37055929	2	2	42	1	0	0	0	0	0	0	0	1	9655	1277	45	3		3	MLH1	3	37055929	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1325119	37055929	160966501	42	9240											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	42	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	29494827	66550756	131471674	43	9241	88	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	42	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	6	66550762	131471668	44	9242	88	2									
CCDC14	64770	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	123650270	123650270	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatctttctgattttcaatCacttttaacagctcttcatt	2	10	7	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:123650270C>T	ENST00000488653.2	-	11	1764	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	CCDC14_ENST00000485727.1_Silent_p.V358V|CCDC14_ENST00000489746.1_Silent_p.V358V|CCDC14_ENST00000433542.2_Silent_p.V517V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.V398V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	558					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)		GATTTTCAATCACTTTTAACA	0.289																																					p.V517V		.											.	CCDC14-68	0			c.G1551A						.						45	41	42					3																	123650270		2193	4285	6478	SO:0001819	synonymous_variant	64770	exon10			TTCAATCACTTTT	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.1674G>A	3.37:g.123650270C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	22	4	NM_022757	0	0	0	0	0	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37																																																																																				.		0.289	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		T	123650270	C	T	123650270	2	4	42	1	0	0	0	0	0	0	0	1	2780	813	29	3		3	CCDC14	3	123650270	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	57099508	123650270	74372160	45	9243											
CCDC39	339829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	180372596	180372596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatggtcctgatatgccGttctacattttaaaagttta	6	7	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:180372596G>A	ENST00000442201.2	-	7	1003	c.884C>T	c.(883-885)aCg>aTg	p.T295M	CCDC39_ENST00000273654.4_Missense_Mutation_p.T379M	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	295					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.T379K(1)|p.T295K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGATATGCCGTTCTACATTT	0.353																																					p.T295M		.											.	CCDC39-72	2	Substitution - Missense(2)	endometrium(2)	c.C884T						.						144	122	129					3																	180372596		1823	4088	5911	SO:0001583	missense	339829	exon7			TATGCCGTTCTAC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.884C>T	3.37:g.180372596G>A	ENSP00000405708:p.Thr295Met	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	95	20	NM_181426	0	0	0	0	0	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485579	0.26686	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.78595	-1.19;-1.19	5.5	-9.16	0.00694	.	0.725798	0.13912	N	0.354195	T	0.41971	0.1182	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.34054	-0.9844	10	0.44086	T	0.13	0.2472	6.2964	0.21089	0.6751:0.081:0.0822:0.1617	.	295	Q9UFE4	CCD39_HUMAN	M	379;295	ENSP00000273654:T379M;ENSP00000405708:T295M	ENSP00000273654:T379M	T	-	2	0	CCDC39	181855290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.617000	0.05584	-2.031000	0.00928	-0.253000	0.11424	ACG	.		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		A	180372596	G	A	180372596	3	1	42	1	0	0	0	0	1	0	0	0	2818	1145	40	1	1997	1	CCDC39	3	180372596	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	56722326	180372596	17649834	46	9244											
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	182941972	182941972	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaaaatatatctgaagatCttctttctaggtgggaaaaa	7	4	4	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:182941972C>G	ENST00000328913.3	-	19	2419	c.2122G>C	c.(2122-2124)Gat>Cat	p.D708H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D708H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	708	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATCTGAAGATCTTCTTTCTAG	0.383																																					p.D708H		.											.	MCF2L2-293	0			c.G2122C						.						78	83	81					3																	182941972		2203	4300	6503	SO:0001583	missense	23101	exon19			GAAGATCTTCTTT	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2122G>C	3.37:g.182941972C>G	ENSP00000328118:p.Asp708His	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_015078	0	0	0	0	0	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270145	0.59540	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.62941	-0.01;-0.01	4.61	4.61	0.57282	Dbl homology (DH) domain (5);	0.120897	0.56097	D	0.000034	T	0.67942	0.2947	L	0.37897	1.145	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.69320	-0.5176	10	0.56958	D	0.05	.	13.1482	0.59474	0.0:1.0:0.0:0.0	.	708	Q86YR7	MF2L2_HUMAN	H	708	ENSP00000328118:D708H;ENSP00000420070:D708H	ENSP00000328118:D708H	D	-	1	0	MCF2L2	184424666	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.127000	0.42035	2.556000	0.86216	0.563000	0.77884	GAT	.		0.383	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		G	182941972	C	G	182941972	3	3	42	1	0	0	0	0	1	0	0	0	9418	913	32	3	1270	3	MCF2L2	3	182941972	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2569376	182941972	15080458	47	9245											
ECE2	9718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	183975278	183975278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggttgcgggaacagtgccCtgagctacgagctgttcctc	13	12	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:183975278C>G	ENST00000402825.3	+	2	214	c.214C>G	c.(214-216)Ctg>Gtg	p.L72V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.L72V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	72	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAACAGTGCCCTGAGCTACGA	0.572																																					p.L72V		.											.	ECE2-94	0			c.C214G						.						85	73	77					3																	183975278		2203	4300	6503	SO:0001583	missense	9718	exon2			AGTGCCCTGAGCT	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.214C>G	3.37:g.183975278C>G	ENSP00000384223:p.Leu72Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	98	9	NM_014693	0	0	0	0	0	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322910	0.60634	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.64991	-0.13;-0.13	5.77	2.92	0.33932	Methyltransferase type 11 (1);	.	.	.	.	T	0.64864	0.2637	L	0.41632	1.29	0.80722	D	1	D;D	0.62365	0.985;0.991	P;P	0.59703	0.848;0.862	T	0.62383	-0.6866	9	0.56958	D	0.05	3.4322	9.3359	0.38049	0.0:0.7646:0.0:0.2354	.	72;72	O60344;O60344-4	ECE2_HUMAN;.	V	72	ENSP00000314295:L72V;ENSP00000384223:L72V	ENSP00000314295:L72V	L	+	1	2	ECE2	185457972	0.667000	0.27484	0.999000	0.59377	0.930000	0.56654	0.879000	0.28146	0.306000	0.22856	0.655000	0.94253	CTG	.		0.572	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		G	183975278	C	G	183975278	3	3	42	1	0	0	0	0	1	0	0	0	4904	680	24	3	220	3	ECE2	3	183975278	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1033306	183975278	14047152	48	9246											
RTP1	132112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	186917619	186917619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgccaggacaaccggCggcaccgcggagagttctgc	14	16	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:186917619C>T	ENST00000312295.4	+	2	583	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	185					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.R185W(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGACAACCGGCGGCACCGCGG	0.682																																					p.R185W		.											.	RTP1-155	1	Substitution - Missense(1)	breast(1)	c.C553T						.						27	28	28					3																	186917619		2203	4297	6500	SO:0001583	missense	132112	exon2			AACCGGCGGCACC	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.553C>T	3.37:g.186917619C>T	ENSP00000311712:p.Arg185Trp	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	215	26	NM_153708	0	0	0	0	0		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831020	0.71258	.	.	ENSG00000175077	ENST00000312295	T	0.22743	1.94	5.7	3.88	0.44766	.	0.163883	0.53938	D	0.000059	T	0.27559	0.0677	L	0.36672	1.1	0.29057	N	0.884159	D	0.67145	0.996	P	0.54815	0.761	T	0.07139	-1.0788	10	0.72032	D	0.01	.	11.6259	0.51145	0.322:0.678:0.0:0.0	.	185	P59025	RTP1_HUMAN	W	185	ENSP00000311712:R185W	ENSP00000311712:R185W	R	+	1	2	RTP1	188400313	0.997000	0.39634	0.953000	0.39169	0.726000	0.41606	0.656000	0.24948	0.740000	0.32651	0.561000	0.74099	CGG	.		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		T	186917619	C	T	186917619	3	4	42	1	0	0	0	0	1	0	0	0	13778	759	27	1	559	1	RTP1	3	186917619	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2942341	186917619	11104811	49	9247											
TMEM44	93109	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	194336340	194336340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacaggtcaaaagggcTtgggtgtcagggctctctct	13	10	5	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr3:194336340T>C	ENST00000392432.2	-	8	1216	c.1011A>G	c.(1009-1011)caA>caG	p.Q337Q	TMEM44_ENST00000381975.3_Silent_p.Q290Q|TMEM44_ENST00000347147.4_Silent_p.Q290Q|TMEM44_ENST00000273580.7_Silent_p.Q290Q|TMEM44_ENST00000473092.1_Silent_p.Q290Q	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	337						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)		TCAAAAGGGCTTGGGTGTCAG	0.493																																					p.Q337Q		.											.	TMEM44-90	0			c.A1011G						.						244	227	233					3																	194336340		2203	4300	6503	SO:0001819	synonymous_variant	93109	exon8			AAGGGCTTGGGTG	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.1011A>G	3.37:g.194336340T>C		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	129	10	NM_001166305	0	0	0	0	0	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	CCDS54699.1																																																																																			.		0.493	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		C	194336340	T	C	194336340	2	2	42	1	0	0	0	0	0	0	0	1	16215	1606	56	4		4	TMEM44	3	194336340	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	7418721	194336340	3686090	50	9248											
GRK4	2868	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	2990469	2990469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaaaggattatagcaGtctttgtgacaagcaaccga	9	9	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:2990469G>C	ENST00000398052.4	+	3	507	c.164G>C	c.(163-165)aGt>aCt	p.S55T	GRK4_ENST00000504933.1_Missense_Mutation_p.S55T|GRK4_ENST00000398051.4_Missense_Mutation_p.S23T|GRK4_ENST00000345167.6_Missense_Mutation_p.S23T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	55	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTATAGCAGTCTTTGTGAC	0.433																																					p.S55T		.											.	GRK4-507	0			c.G164C						.						110	110	110					4																	2990469		2203	4300	6503	SO:0001583	missense	2868	exon3			ATAGCAGTCTTTG		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.164G>C	4.37:g.2990469G>C	ENSP00000381129:p.Ser55Thr	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	113	9	NM_182982	0	0	0	0	0	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091214	0.36855	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.02103	4.45;4.45;4.45;4.45	5.56	4.72	0.59763	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.250184	0.39985	U	0.001215	T	0.05686	0.0149	M	0.76002	2.32	0.80722	D	1	P;B;P;P	0.47762	0.571;0.011;0.878;0.9	B;B;B;P	0.47402	0.065;0.01;0.318;0.546	T	0.16364	-1.0405	10	0.52906	T	0.07	-21.5942	8.6035	0.33758	0.1733:0.0:0.8267:0.0	.	23;23;55;55	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	T	23;55;23;55	ENSP00000381128:S23T;ENSP00000381129:S55T;ENSP00000264764:S23T;ENSP00000427445:S55T	ENSP00000264764:S23T	S	+	2	0	GRK4	2960267	1.000000	0.71417	0.988000	0.46212	0.643000	0.38383	4.358000	0.59442	1.351000	0.45789	0.573000	0.79308	AGT	.		0.433	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		C	2990469	G	C	2990469	3	2	42	1	0	0	0	0	1	0	0	0	6818	1029	36	3	174	3	GRK4	4	2990469	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		2990469	188163807	51	9249											
CNO	55330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	6718286	6718286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccacgtcgtcagcgaggGcgtgccgcgcatccacgcga	14	16	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:6718286G>A	ENST00000320776.3	+	1	445	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	117					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)											GTCAGCGAGGGCGTGCCGCGC	0.687																																					p.G117D		.											.	.	0			c.G350A						.						12	9	10					4																	6718286		2139	4200	6339	SO:0001583	missense	55330	exon1			GCGAGGGCGTGCC	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"Biogenesis of lysosomal organelles complex-1 subunits"	24206	protein-coding gene	gene with protein product		605695	"cappuccino homolog (mouse)"	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.350G>A	4.37:g.6718286G>A	ENSP00000318128:p.Gly117Asp	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	85	36	NM_018366	0	0	0	0	0	Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883231	0.33255	.	.	ENSG00000186222	ENST00000320776	T	0.42900	0.96	3.49	2.65	0.31530	.	0.253189	0.44902	D	0.000403	T	0.31327	0.0793	L	0.51422	1.61	0.30748	N	0.745461	P	0.43352	0.804	B	0.40864	0.342	T	0.19192	-1.0313	10	0.13470	T	0.59	0.0654	7.1149	0.25411	0.123:0.0:0.877:0.0	.	117	Q9NUP1	CNO_HUMAN	D	117	ENSP00000318128:G117D	ENSP00000318128:G117D	G	+	2	0	CNO	6769187	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	3.275000	0.51639	1.059000	0.40554	0.561000	0.74099	GGC	.		0.687	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1	NM_018366		A	6718286	G	A	6718286	3	1	42	1	0	0	0	0	1	0	0	0	3623	1203	42	3	352	3	CNO	4	6718286	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3727817	6718286	184435990	52	9250											
LCORL	254251	hgsc.bcm.edu	37	chr4	18023336	18023336	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcagcggccattct	20	14	1	0	rs577955980	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:18023336G>C	ENST00000382226.5	-	1	147	c.39C>G	c.(37-39)gcC>gcG	p.A13A	LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_5'Flank|LCORL_ENST00000326877.4_Silent_p.A13A|LCORL_ENST00000539056.1_5'UTR	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	13	Ala-rich.				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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						cggcagcagcggcggcggcag	0.716													G|||	7	0.00139776	0	0.0014	5008	,	,		8001	0		0.006	False		,,,				2504	0				p.A13A		.											.	LCORL-90	0			c.C39G						.						2	3	3					4																	18023336		1155	2613	3768	SO:0001819	synonymous_variant	254251	exon1			AGCAGCGGCGGCG		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.39C>G	4.37:g.18023336G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_001166139	0	0	0	0	0	Q96NK1	Silent	SNP	ENST00000382226.5	37	CCDS54749.1																																																																																			.		0.716	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		C	18023336	G	C	18023336	2	2	42	1	0	0	0	0	0	0	0	1	8718	1103	39	2		2	LCORL	4	18023336	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	11305050	18023336	173130940	53	9251											
RBM47	54502	hgsc.bcm.edu	37	chr4	40440854	40440854	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgccctcgggcaccttggcGgaggacccggcggccgagtc	16	16	0	0	rs1052153	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000514014.1_Intron|RBM47_ENST00000295971.7_Silent_p.S19S|RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Silent_p.S19S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					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						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8	9	9		57,57	-7.6	0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	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.57C>G	4.37:g.40440854G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001098634	0	0	0	0	0	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440854	G	C	40440854	2	2	42	1	0	0	0	0	0	0	0	1	13186	1103	39	2		2	RBM47	4	40440854	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	22417518	40440854	150713422	54	9252											
ATP8A1	10396	broad.mit.edu	37	chr4	42580310	42580310	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctgggtaaatttcacAacttctaatgtaaccaataa	5	8	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:42580310A>C	ENST00000381668.5	-	12	1326	c.1095T>G	c.(1093-1095)gtT>gtG	p.V365V	ATP8A1_ENST00000264449.10_Silent_p.V365V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	365					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAATTTCACAACTTCTAATG	0.328																																					p.V365V		.											.	ATP8A1-92	0			c.T1095G						.						90	91	91					4																	42580310		2203	4300	6503	SO:0001819	synonymous_variant	10396	exon12			TTTCACAACTTCT	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1095T>G	4.37:g.42580310A>C		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	167	4	NM_001105529	0	0	0	0	0	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																			.		0.328	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		C	42580310	A	C	42580310	2	2	42	1	0	0	0	0	0	0	0	1	1193	117	5	5		5	ATP8A1	4	42580310	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	2139456	42580310	148573966	55	9253											
CORIN	10699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	47788784	47788784	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggagagaagcatccgTagtccaggctggaacgtgtt	14	10	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:47788784T>A	ENST00000273857.4	-	3	366	c.367A>T	c.(367-369)Acg>Tcg	p.T123S	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.T123S|CORIN_ENST00000505909.1_Missense_Mutation_p.T123S|CORIN_ENST00000508498.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	123					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						GAAGCATCCGTAGTCCAGGCT	0.448																																					p.T123S		.											.	CORIN-91	0			c.A367T						.						126	119	122					4																	47788784		2203	4300	6503	SO:0001583	missense	10699	exon3			CATCCGTAGTCCA	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.367A>T	4.37:g.47788784T>A	ENSP00000273857:p.Thr123Ser	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	215	32	NM_006587	0	0	0	0	0	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743340	0.15642	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92545	-2.55;-2.46;-3.06	4.82	-9.65	0.00537	.	0.872654	0.09929	N	0.737512	T	0.78033	0.4220	L	0.27053	0.805	0.09310	N	1	B;B;B	0.24483	0.038;0.004;0.104	B;B;B	0.22386	0.006;0.002;0.039	T	0.65483	-0.6157	10	0.24483	T	0.36	.	0.7915	0.01058	0.3099:0.2573:0.2727:0.1601	.	123;123;123	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	S	123	ENSP00000273857:T123S;ENSP00000425401:T123S;ENSP00000423216:T123S	ENSP00000273857:T123S	T	-	1	0	CORIN	47483541	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.473000	0.06615	-1.540000	0.01730	0.460000	0.39030	ACG	.		0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			A	47788784	T	A	47788784	3	1	42	1	0	0	0	0	1	0	0	0	3759	1638	57	5	2841	5	CORIN	4	47788784	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	5208474	47788784	143365492	56	9254											
TEC	7006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	48172291	48172291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaagattgtatttttcaCatccgggtgctaatttttca	6	7	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:48172291C>A	ENST00000381501.3	-	5	585	c.428G>T	c.(427-429)tGt>tTt	p.C143F		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	143					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.C143F(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTATTTTTCACATCCGGGTGC	0.289																																					p.C143F		.											.	TEC-1004	1	Substitution - Missense(1)	lung(1)	c.G428T						.						66	73	70					4																	48172291		2200	4293	6493	SO:0001583	missense	7006	exon5			TTTTCACATCCGG	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.428G>T	4.37:g.48172291C>A	ENSP00000370912:p.Cys143Phe	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	194	42	NM_003215	0	0	0	0	0	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063656	0.76187	.	.	ENSG00000135605	ENST00000381501	D	0.99942	-8.47	5.5	5.5	0.81552	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95801	0.8833	10	0.66056	D	0.02	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	143	P42680	TEC_HUMAN	F	143	ENSP00000370912:C143F	ENSP00000370912:C143F	C	-	2	0	TEC	47867048	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.197000	0.72100	2.575000	0.86900	0.585000	0.79938	TGT	.		0.289	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			A	48172291	C	A	48172291	3	1	42	1	0	0	0	0	1	0	0	0	15789	478	17	3	1523	3	TEC	4	48172291	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	383507	48172291	142981985	57	9255											
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	79440544	79440544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctctatatgtgtcctacatCtatgtgacagcccccagggg	9	13	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:79440544C>G	ENST00000264895.6	+	67	10889	c.10449C>G	c.(10447-10449)atC>atG	p.I3483M		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3479					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						TGTCCTACATCTATGTGACAG	0.532																																					p.I3483M		.											.	FRAS1-68	0			c.C10449G						.						156	163	161					4																	79440544		2078	4227	6305	SO:0001583	missense	80144	exon67			CTACATCTATGTG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10449C>G	4.37:g.79440544C>G	ENSP00000264895:p.Ile3483Met	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	104	42	NM_025074	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.19|16.19	3.053282|3.053282	0.55218|0.55218	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.19105|.	2.17|.	5.4|5.4	4.56|4.56	0.56223|0.56223	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63212|0.63212	0.2492|0.2492	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.62891|0.62891	-0.6758|-0.6758	10|5	0.87932|.	D|.	0|.	.|.	6.5157|6.5157	0.22246|0.22246	0.2807:0.6039:0.0:0.1154|0.2807:0.6039:0.0:0.1154	.|.	3483|.	E9PHH6|.	.|.	M|V	3483|1712	ENSP00000264895:I3483M|.	ENSP00000264895:I3483M|.	I|L	+|+	3|1	3|2	FRAS1|FRAS1	79659568|79659568	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.707000|0.707000	0.40811|0.40811	0.691000|0.691000	0.25467|0.25467	1.274000|1.274000	0.44362|0.44362	0.491000|0.491000	0.48974|0.48974	ATC|CTA	.		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	79440544	C	G	79440544	3	3	42	1	0	0	0	0	1	0	0	0	6066	903	32	3	10790	3	FRAS1	4	79440544	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	31268253	79440544	111713732	58	9256											
GK2	2712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	80327936	80327936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagcctggggttcaagGctccaaacgcttactccctc	9	14	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:80327936G>A	ENST00000358842.3	-	1	1436	c.1419C>T	c.(1417-1419)agC>agT	p.S473S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					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)			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						GGGGTTCAAGGCTCCAAACGC	0.478																																					p.S473S		.											.	GK2-94	0			c.C1419T						.						114	111	112					4																	80327936		2203	4300	6503	SO:0001819	synonymous_variant	2712	exon1			TTCAAGGCTCCAA	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.1419C>T	4.37:g.80327936G>A		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	262	27	NM_033214	0	0	0	0	0	Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	CCDS3585.1																																																																																			.		0.478	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		A	80327936	G	A	80327936	2	1	42	1	0	0	0	0	0	0	0	1	6447	1194	42	3		3	GK2	4	80327936	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	887392	80327936	110826340	59	9257											
COQ2	27235	hgsc.bcm.edu	37	chr4	84205872	84205872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacgccagtgccaCagcccgcaggccccgcgcga	13	20	0	0	rs6818847	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:84205872C>A	ENST00000311469.4	-	1	195	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	COQ2_ENST00000311461.7_Missense_Mutation_p.V16L|COQ2_ENST00000439031.2_Missense_Mutation_p.V29L	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	16					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GCCAGTGCCACAGCCCGCAGG	0.766													C|||	3254	0.64976	0.3775	0.647	5008	,	,		9689	0.8879		0.7227	False		,,,				2504	0.6994				p.V66L		.											.	COQ2-92	0			c.G196T						.	C	LEU/VAL	1570,1290		474,622,334	2	3	3		196	-2.7	0	4	dbSNP_116	3	4779,1627		1892,995,316	no	missense	COQ2	NM_015697.7	32	2366,1617,650	AA,AC,CC		25.3981,45.1049,31.4807	benign	66/422	84205872	6349,2917	1430	3203	4633	SO:0001583	missense	27235	exon1			GTGCCACAGCCCG		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.196G>T	4.37:g.84205872C>A	ENSP00000310873:p.Val66Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	1475	0.6753663003663004	219	0.4451219512195122	244	0.6740331491712708	490	0.8566433566433567	522	0.6886543535620053	C	5.506	0.278257	0.10403	0.548951	0.746019	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	T;T;T	0.77098	-1.07;-1.03;-1.0	3.59	-2.74	0.05932	.	2.205390	0.02429	N	0.083323	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	8	0.07813	T	0.8	-2.056	4.7989	0.13287	0.0:0.2608:0.3311:0.4081	rs6818847;rs17850399;rs17858544	16	E2QRG7	.	L	66;29;16	ENSP00000310873:V66L;ENSP00000409275:V29L;ENSP00000311835:V16L	ENSP00000311835:V16L	V	-	1	0	COQ2	84424896	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.921000	0.01569	-0.746000	0.04766	0.467000	0.42956	GTG	C|0.324;A|0.676		0.766	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		A	84205872	C	A	84205872	3	1	42	1	0	0	0	0	1	0	0	0	3752	478	17	3	1097	3	COQ2	4	84205872	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	3877936	84205872	106948404	60	9258											
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	90872784	90872784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctgtagtcggcatccGtgccaaaatgggggcacgtg	14	10	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:90872784G>A	ENST00000394980.1	+	8	3466	c.3147G>A	c.(3145-3147)ccG>ccA	p.P1049P	MMRN1_ENST00000508372.1_Silent_p.P791P|MMRN1_ENST00000394981.1_Silent_p.P352P|MMRN1_ENST00000264790.2_Silent_p.P1049P			Q13201	MMRN1_HUMAN	multimerin 1	1049	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.P1049P(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)		GTCGGCATCCGTGCCAAAATG	0.428																																					p.P1049P		.											.	MMRN1-94	1	Substitution - coding silent(1)	lung(1)	c.G3147A						.						94	81	85					4																	90872784		2203	4300	6503	SO:0001819	synonymous_variant	22915	exon7			GCATCCGTGCCAA	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.3147G>A	4.37:g.90872784G>A		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	145	26	NM_007351	0	0	0	0	0	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	CCDS3635.1																																																																																			.		0.428	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		A	90872784	G	A	90872784	2	1	42	1	0	0	0	0	0	0	0	1	9708	1132	40	1		1	MMRN1	4	90872784	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	6666912	90872784	100281492	61	9259											
C4orf21	55345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	113505163	113505163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggcattcctcataaagTggtatcttttgacttcttaa	7	8	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:113505163T>C	ENST00000505019.1	-	15	4394	c.4269A>G	c.(4267-4269)ccA>ccG	p.P1423P		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1423						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTCATAAAGTGGTATCTTTT	0.373																																					p.P1423P		.											.	C4orf21-90	0			c.A4269G						.						82	84	83					4																	113505163		2203	4300	6503	SO:0001819	synonymous_variant	55345	exon15			ATAAAGTGGTATC																												ENST00000505019.1:c.4269A>G	4.37:g.113505163T>C		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	66	18	NM_018392	0	0	0	0	0	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37																																																																																				.		0.373	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			C	113505163	T	C	113505163	2	2	42	1	0	0	0	0	0	0	0	1	2261	1683	59	4		4	C4orf21	4	113505163	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	22632379	113505163	77649113	62	9260											
QRFPR	84109	broad.mit.edu	37	chr4	122254171	122254171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtccactcttctaagCagcagatgtgttccttttca	9	11	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:122254171C>T	ENST00000394427.2	-	4	1013	c.602G>A	c.(601-603)tGc>tAc	p.C201Y	QRFPR_ENST00000334383.5_Missense_Mutation_p.C201Y	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	201					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTCTTCTAAGCAGCAGATGTG	0.393																																					p.C201Y		.											.	QRFPR-90	0			c.G602A						.						109	104	106					4																	122254171		2203	4300	6503	SO:0001583	missense	84109	exon4			TCTAAGCAGCAGA	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.602G>A	4.37:g.122254171C>T	ENSP00000377948:p.Cys201Tyr	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	212	8	NM_198179	0	0	0	0	0		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840863	0.91197	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.61980	0.06;0.06	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86101	0.1556	10	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	201;201	Q96P65;G4XH69	QRFPR_HUMAN;.	Y	201	ENSP00000377948:C201Y;ENSP00000335610:C201Y	ENSP00000335610:C201Y	C	-	2	0	QRFPR	122473621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.715000	0.84713	2.871000	0.98454	0.655000	0.94253	TGC	.		0.393	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		T	122254171	C	T	122254171	3	4	42	1	0	0	0	0	1	0	0	0	12923	710	25	3	705	3	QRFPR	4	122254171	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	8749008	122254171	68900105	63	9261											
GLRB	2743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	158074152	158074152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggactcctgttcatattaGcactttgcaggtaaggataa	10	7	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:158074152G>T	ENST00000264428.4	+	9	1457	c.1187G>T	c.(1186-1188)aGc>aTc	p.S396I	GLRB_ENST00000509282.1_Missense_Mutation_p.S396I|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	396					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTTCATATTAGCACTTTGCAG	0.403																																					p.S396I		.											.	GLRB-92	0			c.G1187T						.						71	72	72					4																	158074152		2203	4300	6503	SO:0001583	missense	2743	exon9			ATATTAGCACTTT	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1187G>T	4.37:g.158074152G>T	ENSP00000264428:p.Ser396Ile	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	81	13	NM_000824	0	0	0	0	0	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713507	0.68730	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.83755	-1.76;-1.76	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.083917	0.85682	D	0.000000	D	0.86965	0.6060	L	0.52573	1.65	0.80722	D	1	D	0.61697	0.99	P	0.56434	0.798	D	0.87480	0.2420	10	0.54805	T	0.06	.	18.9372	0.92590	0.0:0.0:1.0:0.0	.	396	P48167	GLRB_HUMAN	I	396	ENSP00000264428:S396I;ENSP00000427186:S396I	ENSP00000264428:S396I	S	+	2	0	GLRB	158293602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.289000	0.96061	2.544000	0.85801	0.561000	0.74099	AGC	.		0.403	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		T	158074152	G	T	158074152	3	4	42	1	0	0	0	0	1	0	0	0	6484	971	34	3	1217	3	GLRB	4	158074152	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	35819981	158074152	33080124	64	9262											
DDX60L	91351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	169369890	169369890	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagattccagcatccaaaaAcgtttaagttgcttaaaatg	6	8	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:169369890A>C	ENST00000511577.1	-	9	1284	c.1037T>G	c.(1036-1038)gTt>gGt	p.V346G	DDX60L_ENST00000260184.7_Missense_Mutation_p.V346G|DDX60L_ENST00000505890.1_Missense_Mutation_p.V346G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	346							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GCATCCAAAAACGTTTAAGTT	0.303																																					p.V346G		.											.	DDX60L-69	0			c.T1037G						.						54	49	51					4																	169369890		1813	4068	5881	SO:0001583	missense	91351	exon9			CCAAAAACGTTTA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1037T>G	4.37:g.169369890A>C	ENSP00000422423:p.Val346Gly	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	260	37	NM_001012967	0	0	0	0	0	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	A	0.010	-1.766206	0.00651	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.17691	2.26;2.26;2.26;2.93	2.46	-2.31	0.06765	.	2.815340	0.02431	U	0.083587	T	0.08313	0.0207	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32160	0.349;0.358;0.349	B;B;B	0.24006	0.05;0.05;0.05	T	0.13469	-1.0508	10	0.20046	T	0.44	.	0.2716	0.00232	0.2835:0.1759:0.1483:0.3923	.	346;346;346	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	G	346;346;346;74	ENSP00000260184:V346G;ENSP00000422423:V346G;ENSP00000422202:V346G;ENSP00000421026:V74G	ENSP00000260184:V346G	V	-	2	0	DDX60L	169606465	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.794000	0.04584	-0.296000	0.08947	-0.456000	0.05471	GTT	.		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		C	169369890	A	C	169369890	3	2	42	1	0	0	0	0	1	0	0	0	4388	43	2	5	4203	5	DDX60L	4	169369890	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	11295738	169369890	21784386	65	9263											
ACSL1	2180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	185686036	185686036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccaggcatggtcaggCagcacccggcagtgcactct	12	14	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr4:185686036C>T	ENST00000515030.1	-	15	1728	c.1403G>A	c.(1402-1404)tGc>tAc	p.C468Y	ACSL1_ENST00000281455.2_Missense_Mutation_p.C468Y|ACSL1_ENST00000454703.2_Missense_Mutation_p.C297Y|ACSL1_ENST00000513317.1_Missense_Mutation_p.C468Y|ACSL1_ENST00000507295.1_Missense_Mutation_p.C434Y|ACSL1_ENST00000437665.3_Missense_Mutation_p.C297Y|ACSL1_ENST00000504342.1_Missense_Mutation_p.C468Y			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	468					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGGTCAGGCAGCACCCGGC	0.483																																					p.C468Y		.											.	ACSL1-92	0			c.G1403A						.						69	63	65					4																	185686036		2203	4300	6503	SO:0001583	missense	2180	exon15			GTCAGGCAGCACC	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1403G>A	4.37:g.185686036C>T	ENSP00000422607:p.Cys468Tyr	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	157	30	NM_001995	0	0	0	0	0	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778495	0.49786	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.61	-1.9	0.07665	AMP-dependent synthetase/ligase (1);	0.439705	0.31031	N	0.008398	T	0.32734	0.0839	M	0.80332	2.49	0.28686	N	0.904828	P;B;B;B	0.42941	0.794;0.156;0.156;0.129	P;B;B;B	0.55260	0.772;0.317;0.217;0.183	T	0.58951	-0.7545	10	0.87932	D	0	-4.1284	24.8851	0.99992	0.0:0.1544:0.8456:0.0	.	434;468;468;468	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	Y	297;468;74;468;434;297;468;468	ENSP00000407165:C297Y;ENSP00000422607:C468Y;ENSP00000425098:C74Y;ENSP00000281455:C468Y;ENSP00000426244:C434Y;ENSP00000405687:C297Y;ENSP00000425006:C468Y;ENSP00000426150:C468Y	ENSP00000281455:C468Y	C	-	2	0	ACSL1	185923030	1.000000	0.71417	0.970000	0.41538	0.690000	0.40134	2.417000	0.44653	-0.169000	0.10834	0.655000	0.94253	TGC	.		0.483	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		T	185686036	C	T	185686036	3	4	42	1	0	0	0	0	1	0	0	0	177	710	25	3	721	3	ACSL1	4	185686036	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	16316146	185686036	5468240	66	9264											
IRX4	50805	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	1879672	1879672	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcctcctcctcgcccccctCctcctcctcgccctccgcgt	5	27	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:1879672C>A	ENST00000505790.1	-	5	1138	c.682G>T	c.(682-684)Gag>Tag	p.E228*	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Nonsense_Mutation_p.E228*|IRX4_ENST00000513692.1_Nonsense_Mutation_p.E228*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcgcccccctcctcctcctcg	0.687																																					p.E228X		.											.	IRX4-226	0			c.G682T						.						30	29	29					5																	1879672		2201	4300	6501	SO:0001587	stop_gained	50805	exon4			CCCCCTCCTCCTC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.682G>T	5.37:g.1879672C>A	ENSP00000423161:p.Glu228*	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	145	58	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Nonsense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411487	0.83340	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	.	.	.	4.17	3.3	0.37823	.	0.057275	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.1576	10.7435	0.46166	0.0:0.9042:0.0:0.0958	.	.	.	.	X	228	.	ENSP00000231357:E228X	E	-	1	0	IRX4	1932672	1.000000	0.71417	0.023000	0.16930	0.158000	0.22134	5.023000	0.64084	0.967000	0.38186	0.462000	0.41574	GAG	.		0.687	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		A	1879672	C	A	1879672	4	1	42	1	0	0	0	0	0	1	0	0	7873	864	30	3	885	3	IRX4	5	1879672	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		1879672	179035588	67	9265											
FAM173B	134145	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	10239180	10239180	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttttagcagaactcacaAtgcgtccgtccccactaccg	7	14	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:10239180A>T	ENST00000511437.1	-	2	317	c.305T>A	c.(304-306)aTt>aAt	p.I102N	FAM173B_ENST00000510047.1_Splice_Site_p.I102N|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_De_novo_Start_InFrame	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	102						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						AGAACTCACAATGCGTCCGTC	0.403																																					p.I102N		.											.	FAM173B-91	0			c.T305A						.						110	107	108					5																	10239180		1981	4139	6120	SO:0001630	splice_region_variant	134145	exon2			CTCACAATGCGTC		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.306+1T>A	5.37:g.10239180A>T		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	38	17	NM_199133	0	0	0	0	0	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972781	0.53614	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.33216	1.42;1.42	5.19	5.19	0.71726	.	0.156234	0.56097	D	0.000028	T	0.60521	0.2275	M	0.86651	2.83	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.79108	0.972;0.992	T	0.68577	-0.5372	10	0.87932	D	0	-14.9513	14.2618	0.66090	1.0:0.0:0.0:0.0	.	102;102	E9PBZ4;Q6P4H8	.;F173B_HUMAN	N	102	ENSP00000422338:I102N;ENSP00000420876:I102N	ENSP00000424210:I102N	I	-	2	0	FAM173B	10292180	1.000000	0.71417	0.014000	0.15608	0.183000	0.23260	8.325000	0.90007	1.969000	0.57287	0.533000	0.62120	ATT	.		0.403	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133	Missense_Mutation	T	10239180	A	T	10239180	5	4	42	1	0	0	0	0	0	0	1	0	5513	115	4	5	412	5	FAM173B	5	10239180	Splice_Site	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	8359508	10239180	170676080	68	9266											
MAP3K1	4214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	56155597	56155597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatgaatcacttagcagCtgagtctccaggagaggtcc	11	9	2	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:56155597C>T	ENST00000399503.3	+	3	689	c.689C>T	c.(688-690)gCt>gTt	p.A230V	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	230					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)		CACTTAGCAGCTGAGTCTCCA	0.448																																					p.A230V		.											.	MAP3K1-956	0			c.C689T						.						42	42	42					5																	56155597		1910	4136	6046	SO:0001583	missense	4214	exon3			TAGCAGCTGAGTC	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.689C>T	5.37:g.56155597C>T	ENSP00000382423:p.Ala230Val	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	128	15	NM_005921	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344109	0.41498	.	.	ENSG00000095015	ENST00000399503	T	0.68479	-0.33	5.72	5.72	0.89469	.	0.776287	0.12398	N	0.472368	T	0.53449	0.1797	N	0.19112	0.55	0.33365	D	0.572781	B	0.15141	0.012	B	0.15870	0.014	T	0.55101	-0.8193	10	0.30854	T	0.27	.	13.9068	0.63841	0.0:0.9214:0.0:0.0786	.	230	Q13233	M3K1_HUMAN	V	230	ENSP00000382423:A230V	ENSP00000382423:A230V	A	+	2	0	MAP3K1	56191354	0.979000	0.34478	0.441000	0.26858	0.422000	0.31414	2.902000	0.48703	2.865000	0.98341	0.655000	0.94253	GCT	.		0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56155597	C	T	56155597	3	4	42	1	0	0	0	0	1	0	0	0	9281	797	28	3	699	3	MAP3K1	5	56155597	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	45916417	56155597	124759663	69	9267											
RASGRF2	5924	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	80409739	80409739	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaacgaagtattcaaaaaGgtattatctagcacatttgc	6	6	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:80409739G>T	ENST00000265080.4	+	15	2537	c.2470G>T	c.(2470-2472)Gca>Tca	p.A824S	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	824					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TATTCAAAAAGGTATTATCTA	0.468																																					p.A824S		.											.	RASGRF2-725	0			c.G2470T						.						58	58	58					5																	80409739		2203	4300	6503	SO:0001630	splice_region_variant	5924	exon15			CAAAAAGGTATTA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2470+1G>T	5.37:g.80409739G>T		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	42	14	NM_006909	0	0	0	0	0	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470747	0.01044	.	.	ENSG00000113319	ENST00000265080	T	0.73575	-0.76	4.94	4.04	0.47022	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	1.547490	0.03535	N	0.222956	T	0.67069	0.2854	L	0.37630	1.12	0.48975	D	0.999733	B	0.15141	0.012	B	0.12156	0.007	T	0.42716	-0.9435	10	0.05620	T	0.96	.	13.876	0.63653	0.0:0.0:0.8412:0.1588	.	824	O14827	RGRF2_HUMAN	S	824	ENSP00000265080:A824S	ENSP00000265080:A824S	A	+	1	0	RASGRF2	80445495	1.000000	0.71417	0.969000	0.41365	0.010000	0.07245	3.690000	0.54713	1.026000	0.39733	0.644000	0.83932	GCA	.		0.468	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Missense_Mutation	T	80409739	G	T	80409739	5	4	42	1	0	0	0	0	0	0	1	0	13118	1014	35	3	2528	3	RASGRF2	5	80409739	Splice_Site	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	24254142	80409739	100505521	70	9268											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgagcagcgccgcAgccccgggctctgccccccg	14	19	1	1	rs2662263	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB_ENST00000308234.7_Missense_Mutation_p.S63R|RGMB-AS1_ENST00000515003.1_RNA|RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB_ENST00000504776.1_3'UTR|RGMB-AS1_ENST00000501938.2_RNA			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1	0.9885	5008	,	,		8183	1		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1	1	1					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98109838	A	C	98109838	3	2	42	1	0	0	0	0	1	0	0	0	13326	188	7	5	193	5	RGMB	5	98109838	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	17700099	98109838	82805422	71	9269											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	42	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	34039846	132149684	48765576	72	9270											
AFF4	27125	hgsc.bcm.edu	37	chr5	132232343	132232343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggagtttgtgaggaaggaGgaaggctctcactttcatct	13	6	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:132232343G>T	ENST00000265343.5	-	11	2358	c.1979C>A	c.(1978-1980)cCt>cAt	p.P660H	AFF4_ENST00000378595.3_Missense_Mutation_p.P660H	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	660					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)			TGAGGAAGGAGGAAGGCTCTC	0.413																																					p.P660H	Ovarian(126;889 1733 2942 10745 11605)	.											.	AFF4-229	0			c.C1979A						.						74	71	72					5																	132232343		2203	4300	6503	SO:0001583	missense	27125	exon11			GAAGGAGGAAGGC	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.1979C>A	5.37:g.132232343G>T	ENSP00000265343:p.Pro660His	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_014423	0	0	0	0	0	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723593	0.68959	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.69175	-0.38;-0.38	5.24	3.42	0.39159	.	0.161988	0.56097	D	0.000034	T	0.74974	0.3787	M	0.65498	2.005	0.54753	D	0.999984	D;D	0.64830	0.994;0.97	P;P	0.58873	0.847;0.797	T	0.76637	-0.2886	10	0.51188	T	0.08	-11.5536	12.2238	0.54449	0.1458:0.0:0.8542:0.0	.	660;660	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	H	660	ENSP00000265343:P660H;ENSP00000367858:P660H	ENSP00000265343:P660H	P	-	2	0	AFF4	132260242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	1.322000	0.45245	0.563000	0.77884	CCT	.		0.413	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		T	132232343	G	T	132232343	3	4	42	1	0	0	0	0	1	0	0	0	359	1000	35	3	1556	3	AFF4	5	132232343	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	82659	132232343	48682917	73	9271											
HARS2	23438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140075331	140075331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctgtaggattttgaCattgctggtcagtttgaccc	10	8	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:140075331C>T	ENST00000230771.3	+	6	757	c.534C>T	c.(532-534)gaC>gaT	p.D178D	HARS2_ENST00000435019.2_Silent_p.D138D|HARS2_ENST00000437649.2_Silent_p.D104D|HARS2_ENST00000432671.2_Silent_p.D64D|HARS2_ENST00000508522.1_Silent_p.D153D|HARS2_ENST00000448069.2_Silent_p.D39D	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	178					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATTTTGACATTGCTGGTC	0.433																																					p.D178D		.											.	HARS2-90	0			c.C534T						.						180	169	173					5																	140075331		2203	4300	6503	SO:0001819	synonymous_variant	23438	exon6			TTTTGACATTGCT	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.534C>T	5.37:g.140075331C>T		Somatic	190	0		WXS	Illumina GAIIx	Phase_I	148	22	NM_012208	0	0	0	0	0	B4DDY8	Silent	SNP	ENST00000230771.3	37	CCDS4238.1																																																																																			.		0.433	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		T	140075331	C	T	140075331	2	4	42	1	0	0	0	0	0	0	0	1	6987	477	17	3		3	HARS2	5	140075331	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	7842988	140075331	40839929	74	9272											
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	140797965	140797965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacgagtatttctcatTggtggagaaagacaatcctg	9	8	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:140797965T>C	ENST00000398594.2	+	1	539	c.539T>C	c.(538-540)tTg>tCg	p.L180S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	180	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTTCTCATTGGTGGAGAAA	0.448																																					p.L180S		.											.	PCDHGB7-29	0			c.T539C						.						64	63	63					5																	140797965		1882	4118	6000	SO:0001583	missense	56099	exon1			TCTCATTGGTGGA	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.539T>C	5.37:g.140797965T>C	ENSP00000381594:p.Leu180Ser	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	122	12	NM_018927	0	0	0	0	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	t	21.5	4.159621	0.78226	.	.	ENSG00000254122	ENST00000398594	T	0.55413	0.52	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.23243	U	0.050330	T	0.79040	0.4379	H	0.98089	4.145	0.31400	N	0.676813	P;D	0.55172	0.935;0.97	P;P	0.53518	0.728;0.721	D	0.87165	0.2217	10	0.87932	D	0	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	180;180	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	S	180	ENSP00000381594:L180S	ENSP00000381594:L180S	L	+	2	0	PCDHGB7	140778149	0.980000	0.34600	0.991000	0.47740	0.983000	0.72400	7.915000	0.87484	2.281000	0.76405	0.533000	0.62120	TTG	.		0.448	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		C	140797965	T	C	140797965	3	2	42	1	0	0	0	0	1	0	0	0	11607	1821	63	4	541	4	PCDHGB7	5	140797965	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	722634	140797965	40117295	75	9273											
FLT4	2324	broad.mit.edu;bcgsc.ca	37	chr5	180046752	180046752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccttcccgaaggcgcCgtagccgagcactctccctg	9	19	1	0	rs144045237		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:180046752C>T	ENST00000261937.6	-	18	2638	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	FLT4_ENST00000393347.3_Missense_Mutation_p.G854S|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.G854S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGAAGGCGCCGTAGCCGAGC	0.667																																					p.G854S	Colon(97;1075 1466 27033 27547 35871)	.											.	FLT4-1490	0			c.G2560A	GRCh37	CM032227|CM078058	FLT4	M	rs144045237	.						47	50	49					5																	180046752		2202	4297	6499	SO:0001583	missense	2324	exon18			AGGCGCCGTAGCC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2560G>A	5.37:g.180046752C>T	ENSP00000261937:p.Gly854Ser	Somatic	187	1		WXS	Illumina GAIIx	Phase_I	242	15	NM_182925	0	0	0	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604820	0.87157	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.99353	-5.77;-5.77;-5.77	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.99536	0.9834	M	0.92738	3.34	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	0.97962	1.0338	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	664;854;854	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	S	854;854;854;664	ENSP00000261937:G854S;ENSP00000377016:G854S;ENSP00000426057:G854S	ENSP00000261937:G854S	G	-	1	0	FLT4	179979358	1.000000	0.71417	0.971000	0.41717	0.519000	0.34347	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGC	.		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180046752	C	T	180046752	3	4	42	1	0	0	0	0	1	0	0	0	5966	652	23	1	1591	1	FLT4	5	180046752	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	39248787	180046752	868508	76	9274											
OR2Y1	134083	bcgsc.ca	37	chr5	180166250	180166250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaaaagggcaacaaattttCcctcacgctcagaataattg	6	9	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr5:180166250C>A	ENST00000307832.2	-	1	849	c.809G>T	c.(808-810)gGa>gTa	p.G270V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAAATTTTCCCTCACGCTC	0.413																																					p.G270V		.											.	OR2Y1-68	0			c.G809T						.						87	100	96					5																	180166250		2203	4300	6503	SO:0001583	missense	134083	exon1			AATTTTCCCTCAC	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.809G>T	5.37:g.180166250C>A	ENSP00000312403:p.Gly270Val	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	33	9	NM_001001657	0	0	0	0	0	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130370	0.37630	.	.	ENSG00000174339	ENST00000307832	T	0.00107	8.72	4.41	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000455	T	0.00384	0.0012	M	0.78916	2.43	0.20563	N	0.999888	D	0.89917	1.0	D	0.97110	1.0	T	0.37934	-0.9684	10	0.87932	D	0	.	7.0309	0.24967	0.0:0.7947:0.0:0.2053	.	270	Q8NGV0	OR2Y1_HUMAN	V	270	ENSP00000312403:G270V	ENSP00000312403:G270V	G	-	2	0	OR2Y1	180098856	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.071000	0.11505	1.197000	0.43143	0.511000	0.50034	GGA	.		0.413	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		A	180166250	C	A	180166250	3	1	42	1	0	0	0	0	1	0	0	0	11074	855	30	3	130	3	OR2Y1	5	180166250	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	119498	180166250	749010	77	9275											
TXNDC5	81567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	7904880	7904880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactttagccacatagaCtttggcatcttccatgctgt	7	12	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:7904880C>T	ENST00000379757.4	-	2	377	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.V6I|TXNDC5_ENST00000539054.1_Missense_Mutation_p.V42I	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	114	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GCCACATAGACTTTGGCATCT	0.572																																					p.V114I	Ovarian(119;1430 1625 3928 26125 34589)	.											.	TXNDC5-90	0			c.G340A						.						197	145	163					6																	7904880		2203	4300	6503	SO:0001583	missense	81567	exon2			CATAGACTTTGGC	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.340G>A	6.37:g.7904880C>T	ENSP00000369081:p.Val114Ile	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	76	13	NM_030810	0	0	0	0	0	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.369351	0.61624	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03920	3.76;3.76;3.76	5.18	5.18	0.71444	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.187222	0.46442	D	0.000293	T	0.03011	0.0089	L	0.31845	0.965	0.47584	D	0.999467	B;B	0.25351	0.011;0.124	B;B	0.33121	0.077;0.158	T	0.50233	-0.8852	10	0.35671	T	0.21	.	17.459	0.87615	0.0:1.0:0.0:0.0	.	42;114	Q86UY0;Q8NBS9	.;TXND5_HUMAN	I	42;114;6	ENSP00000442453:V42I;ENSP00000369081:V114I;ENSP00000420784:V6I	ENSP00000442453:V42I	V	-	1	0	TXNDC5	7849879	0.999000	0.42202	1.000000	0.80357	0.736000	0.42039	4.279000	0.58953	2.388000	0.81334	0.558000	0.71614	GTC	.		0.572	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		T	7904880	C	T	7904880	3	4	42	1	0	0	0	0	1	0	0	0	16848	565	20	3	994	3	TXNDC5	6	7904880	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		7904880	163210187	78	9276											
TRIM39	56658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	30297383	30297383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaagcagctccaggccGtcaagcggaagatccgggat	13	12	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:30297383G>A	ENST00000396547.1	+	2	449	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.V9I|TRIM39_ENST00000396551.3_Missense_Mutation_p.V97I|TRIM39_ENST00000396548.1_Missense_Mutation_p.V97I|TRIM39_ENST00000376659.5_Missense_Mutation_p.V97I|HCG18_ENST00000426882.1_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.V97I|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000540416.1_Missense_Mutation_p.V97I			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	97					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						GCTCCAGGCCGTCAAGCGGAA	0.557																																					p.V97I		.											.	TRIM39-161	0			c.G289A						.						55	52	53					6																	30297383		1510	2707	4217	SO:0001583	missense	56658	exon3			CAGGCCGTCAAGC	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.289G>A	6.37:g.30297383G>A	ENSP00000379796:p.Val97Ile	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	155	13	NM_021253	0	0	0	0	0	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787415	0.49997	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000458516;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T;T;T	0.67345	-0.26;0.11;0.08;0.15;-0.17;0.11;0.11;0.08;0.99	5.23	4.35	0.52113	.	0.000000	0.42964	D	0.000632	T	0.32793	0.0841	L	0.34521	1.04	0.28472	N	0.915364	B;P;B	0.39311	0.048;0.667;0.177	B;B;B	0.27500	0.005;0.048;0.08	T	0.24764	-1.0151	10	0.37606	T	0.19	.	12.0746	0.53636	0.0854:0.0:0.9146:0.0	.	11;97;97	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	I	97;97;97;97;97;97;11;97;97;97;97;9	ENSP00000405928:V97I;ENSP00000379800:V97I;ENSP00000365844:V97I;ENSP00000439400:V97I;ENSP00000406019:V97I;ENSP00000379797:V97I;ENSP00000365847:V97I;ENSP00000379796:V97I;ENSP00000424048:V9I	ENSP00000365844:V97I	V	+	1	0	TRIM39-RPP21;TRIM39	30405362	0.823000	0.29233	0.940000	0.37924	0.732000	0.41865	2.477000	0.45180	2.719000	0.93026	0.555000	0.69702	GTC	.		0.557	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		A	30297383	G	A	30297383	3	1	42	1	0	0	0	0	1	0	0	0	16561	1145	40	1	291	1	TRIM39	6	30297383	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	22392503	30297383	140817684	79	9277											
SKIV2L	6499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31927812	31927812	+	Missense_Mutation	SNP	C	C	T													ccatggcctccctccttgtgCcccagatctgcagcaagaag							TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:31927812C>T	ENST00000375394.2	+	3	265	c.152C>T	c.(151-153)gCc>gTc	p.A51V	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000375425.5_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	51					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						CCTCCTTGTGCCCCAGATCTG	0.532																																					p.A51V		.											.	SKIV2L-290	0			c.C152T						.						88	76	80					6																	31927812		1509	2709	4218	SO:0001583	missense	6499	exon3			CTTGTGCCCCAGA		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.152C>T	6.37:g.31927812C>T	ENSP00000364543:p.Ala51Val	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	75	11	NM_006929	0	0	0	0	0	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734632	0.30774	.	.	ENSG00000204351	ENST00000375394	T	0.41758	0.99	4.61	4.61	0.57282	.	0.241438	0.42172	D	0.000742	T	0.12860	0.0312	N	0.19112	0.55	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.05616	-1.0874	10	0.10902	T	0.67	-20.5096	14.4976	0.67700	0.0:1.0:0.0:0.0	.	51	Q15477	SKIV2_HUMAN	V	51	ENSP00000364543:A51V	ENSP00000364543:A51V	A	+	2	0	SKIV2L	32035791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.641000	0.46587	2.398000	0.81561	0.655000	0.94253	GCC	.		0.532	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31927812	C	T	31927812	3	4	42	1	0	0	0	0	1	0	0	0	14404	739	26	3	162	3	SKIV2L	6	31927812	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1630429	31927812	139187255	80	9278	89	2									
SKIV2L	6499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31927815	31927815	+	Missense_Mutation	SNP	C	C	A													tggcctccctccttgtgcccCagatctgcagcaagaagcag							TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:31927815C>A	ENST00000375394.2	+	3	268	c.155C>A	c.(154-156)cCa>cAa	p.P52Q	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000375425.5_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	52					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						CCTTGTGCCCCAGATCTGCAG	0.542																																					p.P52Q		.											.	SKIV2L-290	0			c.C155A						.						88	76	81					6																	31927815		1509	2709	4218	SO:0001583	missense	6499	exon3			GTGCCCCAGATCT		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.155C>A	6.37:g.31927815C>A	ENSP00000364543:p.Pro52Gln	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	73	10	NM_006929	0	0	0	0	0	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852061	0.32699	.	.	ENSG00000204351	ENST00000375394	T	0.39787	1.06	4.61	4.61	0.57282	.	0.163492	0.43416	D	0.000580	T	0.20618	0.0496	L	0.41824	1.3	0.80722	D	1	P	0.52316	0.952	B	0.42692	0.395	T	0.01879	-1.1255	10	0.29301	T	0.29	-9.5492	10.1141	0.42581	0.1994:0.8006:0.0:0.0	.	52	Q15477	SKIV2_HUMAN	Q	52	ENSP00000364543:P52Q	ENSP00000364543:P52Q	P	+	2	0	SKIV2L	32035794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.843000	0.48238	2.398000	0.81561	0.655000	0.94253	CCA	.		0.542	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31927815	C	A	31927815	3	1	42	1	0	0	0	0	1	0	0	0	14404	594	21	3	165	3	SKIV2L	6	31927815	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	3	31927815	139187252	81	9279	89	2									
SKIV2L	6499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31928995	31928995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaactccagctcctggActactaagccttagctgtat	7	13	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:31928995A>G	ENST00000375394.2	+	8	734	c.621A>G	c.(619-621)ggA>ggG	p.G207G	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_Intron|SKIV2L_ENST00000544581.1_Silent_p.G14G|NELFE_ENST00000375425.5_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	207					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						CAGCTCCTGGACTACTAAGCC	0.532																																					p.G207G		.											.	SKIV2L-290	0			c.A621G						.						65	63	64					6																	31928995		2203	4300	6503	SO:0001819	synonymous_variant	6499	exon8			TCCTGGACTACTA		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.621A>G	6.37:g.31928995A>G		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	147	15	NM_006929	0	0	0	0	0	O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	CCDS4731.1																																																																																			.		0.532	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			G	31928995	A	G	31928995	2	3	42	1	0	0	0	0	0	0	0	1	14404	262	10	4		4	SKIV2L	6	31928995	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	1180	31928995	139186072	82	9280											
HLA-DOB	3112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	32782314	32782314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagcctgtcacagagcaGtgcagcagattatgctggtg	13	8	1	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:32782314G>A	ENST00000438763.2	-	3	522	c.426C>T	c.(424-426)caC>caT	p.H142H	TAP2_ENST00000452392.2_Silent_p.H749H	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	142	Beta-2.|Ig-like C1-type.				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)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						TCACAGAGCAGTGCAGCAGAT	0.532																																					p.H142H		.											.	HLA-DOB-91	0			c.C426T						.						194	199	197					6																	32782314		1511	2709	4220	SO:0001819	synonymous_variant	3112	exon3			AGAGCAGTGCAGC		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.426C>T	6.37:g.32782314G>A		Somatic	134	0		WXS	Illumina GAIIx	Phase_I	137	18	NM_002120	0	0	0	0	0	B0V0Y0|Q29746|Q29825|Q6FHC2	Silent	SNP	ENST00000438763.2	37	CCDS4754.1																																																																																			.		0.532	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		A	32782314	G	A	32782314	2	1	42	1	0	0	0	0	0	0	0	1	7228	1020	36	3		3	HLA-DOB	6	32782314	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	853319	32782314	138332753	83	9281											
NFYA	4800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41057410	41057410	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagacccagcagatcatcatCcagcagccccagacggctgt	9	16	2	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:41057410C>G	ENST00000341376.6	+	5	603	c.402C>G	c.(400-402)atC>atG	p.I134M	NFYA_ENST00000353205.5_Missense_Mutation_p.I105M|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	134	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGATCATCATCCAGCAGCCCC	0.557																																					p.I134M		.											.	NFYA-226	0			c.C402G						.						62	61	61					6																	41057410		2203	4300	6503	SO:0001583	missense	4800	exon5			CATCATCCAGCAG		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.402C>G	6.37:g.41057410C>G	ENSP00000345702:p.Ile134Met	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	233	33	NM_002505	0	0	0	0	0	Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554874	0.45487	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.96	0.928	0.19443	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.61703	1.905	0.45415	D	0.998394	D;P	0.54397	0.966;0.943	P;D	0.64321	0.844;0.924	T	0.54886	-0.8226	9	0.52906	T	0.07	-7.2861	5.2648	0.15593	0.2201:0.4914:0.0:0.2884	.	105;134	P23511-2;P23511	.;NFYA_HUMAN	M	134;105	.	ENSP00000345702:I134M	I	+	3	3	NFYA	41165388	0.959000	0.32827	1.000000	0.80357	0.985000	0.73830	0.146000	0.16180	0.417000	0.25871	0.650000	0.86243	ATC	.		0.557	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			G	41057410	C	G	41057410	3	3	42	1	0	0	0	0	1	0	0	0	10428	845	30	3	416	3	NFYA	6	41057410	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	8275096	41057410	130057657	84	9282											
CUL9	23113	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43181477	43181477	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcttcatgagcctgggCcccagcgcagtggggaggcc	17	13	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:43181477C>G	ENST00000252050.4	+	29	5599	c.5515C>G	c.(5515-5517)Ccc>Gcc	p.P1839A	CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Missense_Mutation_p.P1729A|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1839				Missing (in Ref. 3; CAH18696). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGAGCCTGGGCCCCAGCGCAG	0.592																																					p.P1839A		.											.	CUL9-529	0			c.C5515G						.						61	64	63					6																	43181477		2203	4300	6503	SO:0001583	missense	23113	exon29			CCTGGGCCCCAGC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5515C>G	6.37:g.43181477C>G	ENSP00000252050:p.Pro1839Ala	Somatic	52	1		WXS	Illumina GAIIx	Phase_I	69	37	NM_015089	0	0	0	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	2.076	-0.411885	0.04799	.	.	ENSG00000112659	ENST00000252050;ENST00000354495	T;T	0.71579	-0.58;-0.58	4.92	1.07	0.20283	.	2.825000	0.01417	N	0.014215	T	0.27866	0.0686	L	0.27053	0.805	0.09310	N	1	B;B	0.15719	0.014;0.002	B;B	0.11329	0.006;0.0	T	0.06499	-1.0823	10	0.11485	T	0.65	-1.1462	1.6369	0.02744	0.1318:0.3959:0.1464:0.3258	.	1729;1839	Q8IWT3-3;Q8IWT3	.;CUL9_HUMAN	A	1839;1729	ENSP00000252050:P1839A;ENSP00000346490:P1729A	ENSP00000252050:P1839A	P	+	1	0	CUL9	43289455	0.028000	0.19301	0.001000	0.08648	0.166000	0.22503	0.027000	0.13621	0.288000	0.22398	0.655000	0.94253	CCC	.		0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		G	43181477	C	G	43181477	3	3	42	1	0	0	0	0	1	0	0	0	4070	739	26	3	5625	3	CUL9	6	43181477	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2124067	43181477	127933590	85	9283											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51890570	51890570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatccagacaggctcacGttgccctggaaggactgtgt	13	11	1	1	rs147584295	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:51890570G>A	ENST00000371117.3	-	32	4313	c.4038C>T	c.(4036-4038)aaC>aaT	p.N1346N	PKHD1_ENST00000340994.4_Silent_p.N1346N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1346	IPT/TIG 8; atypical.				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)					ACAGGCTCACGTTGCCCTGGA	0.527													G|||	2	0.000399361	0.0015	0	5008	,	,		21679	0		0	False		,,,				2504	0				p.N1346N		.											.	PKHD1-603	0			c.C4038T						.	G	,	6,4400	12.9+/-30.5	0,6,2197	101	90	94		4038,4038	3.8	0	6	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	1346/4075,1346/3397	51890570	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5314	exon32			GCTCACGTTGCCC	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.4038C>T	6.37:g.51890570G>A		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	134	61	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			G|0.999;A|0.001		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51890570	G	A	51890570	2	1	42	1	0	0	0	0	0	0	0	1	12010	1136	40	1		1	PKHD1	6	51890570	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	8709093	51890570	119224497	86	9284											
SERINC1	57515	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	122772896	122772925	+	Splice_Site	DEL	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	-													caaaccagatcttggttgtgAttcctacaaaaaaaaaaaaa					rs373992860|rs67317656|rs369819136|rs55740173|rs369433381|rs373266945|rs375724023|rs371239654|rs6569259		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:122772896_122772925delATTCCTACAAAAAAAAAAAAAAAAAAATAT	ENST00000339697.4	-	7	844_847	c.760_763delATATTTTTTTTTTTTTTTTTTTGTAGGAAT	c.(760-765)atattt>tt	p.IF254del		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	254					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CTTGGTTGTGATTCCTACaaaaaaaaaaaaaaaaaaatatatatatatat	0.278																																					p.254_255del		.											.	SERINC1-91	0			c.760_763del						.																																			SO:0001630	splice_region_variant	57515	exon7			GTTGTGATTCCTA	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.760-1ATATTTTTTTTTTTTTTTTTTTGTAGGAAT>-	6.37:g.122772896_122772925delATTCCTACAAAAAAAAAAAAAAAAAAATAT		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	82	12	NM_020755	0	0	0	0	0	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Frame_Shift_Del	DEL	ENST00000339697.4	37	CCDS5125.1																																																																																			.		0.278	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755	In_Frame_Del	-	122772925	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	-	122772896	8	5	42	1	0	1	0	1	0	0	1	0	14124	333	12	0	614	0	SERINC1	6	122772896	Splice_Site	DEL	ATTCCTACAAAAAAAAAAAAAAAAAAATAT	TCGA-OR-A5L2-01A-11D-A30A-10	70882326	122772896	48342171	87	9285											
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	129465098	129465098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatgatccttctccagAactgctagaatttacctccg	7	13	1	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:129465098A>C	ENST00000421865.2	+	5	741	c.692A>C	c.(691-693)gAa>gCa	p.E231A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	231	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTCTCCAGAACTGCTAGAA	0.383																																					p.E231A		.											.	LAMA2-162	0			c.A692C						.						105	103	103					6																	129465098		2203	4300	6503	SO:0001583	missense	3908	exon5			CTCCAGAACTGCT	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.692A>C	6.37:g.129465098A>C	ENSP00000400365:p.Glu231Ala	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	71	11	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	7.069	0.567917	0.13560	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75589	-0.95	5.09	5.09	0.68999	Laminin, N-terminal (3);	0.267926	0.30602	N	0.009270	T	0.48960	0.1529	L	0.45285	1.41	0.35155	D	0.770137	B;B	0.16166	0.016;0.007	B;B	0.16289	0.015;0.015	T	0.45833	-0.9234	10	0.17832	T	0.49	.	12.2257	0.54459	0.7855:0.2145:0.0:0.0	.	231;231	A6NF00;P24043	.;LAMA2_HUMAN	A	231	ENSP00000400365:E231A	ENSP00000346769:E231A	E	+	2	0	LAMA2	129506791	0.880000	0.30214	1.000000	0.80357	0.219000	0.24729	0.450000	0.21762	2.051000	0.60960	0.383000	0.25322	GAA	.		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			C	129465098	A	C	129465098	3	2	42	1	0	0	0	0	1	0	0	0	8634	246	9	5	710	5	LAMA2	6	129465098	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	6692202	129465098	41649969	88	9286											
MED23	9439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	131914268	131914268	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggaaactcattgaatctCcagtcacagtttggaaaggg	11	7	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr6:131914268C>T	ENST00000368068.3	-	24	3455	c.3276G>A	c.(3274-3276)tgG>tgA	p.W1092*	MED23_ENST00000368058.1_Nonsense_Mutation_p.W1098*|MED23_ENST00000545957.1_Nonsense_Mutation_p.W733*|MED23_ENST00000403834.3_Nonsense_Mutation_p.W1098*|MED23_ENST00000368060.3_Nonsense_Mutation_p.W1092*|MED23_ENST00000354577.4_Nonsense_Mutation_p.W1098*|MED23_ENST00000479213.1_5'UTR	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1092					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATTGAATCTCCAGTCACAGT	0.468																																					p.W1098X		.											.	MED23-24	0			c.G3294A						.						96	83	87					6																	131914268		2203	4300	6503	SO:0001587	stop_gained	9439	exon25			GAATCTCCAGTCA	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3276G>A	6.37:g.131914268C>T	ENSP00000357047:p.Trp1092*	Somatic	209	0		WXS	Illumina GAIIx	Phase_I	188	86	NM_015979	0	0	0	0	0	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	39	7.732031	0.98459	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.614	19.4828	0.95017	0.0:1.0:0.0:0.0	.	.	.	.	X	1098;1092;1098;1092;1098;733	.	ENSP00000346588:W1098X	W	-	3	0	MED23	131955961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.602000	0.87976	0.650000	0.86243	TGG	.		0.468	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			T	131914268	C	T	131914268	4	4	42	1	0	0	0	0	0	1	0	0	9479	856	30	3	861	3	MED23	6	131914268	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2449170	131914268	39200799	89	9287											
RADIL	55698	hgsc.bcm.edu	37	chr7	4876135	4876135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtctcactgactgtgcGgcgcaaccggggtggaggag	18	10	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:4876135G>A	ENST00000399583.3	-	3	824	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.R213C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	213					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGACTGTGCGGCGCAACCGG	0.731																																					p.R213C		.											.	RADIL-994	0			c.C637T						.						12	19	17					7																	4876135		2078	4180	6258	SO:0001583	missense	55698	exon3			CTGTGCGGCGCAA	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.637C>T	7.37:g.4876135G>A	ENSP00000382492:p.Arg213Cys	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	49	7	NM_018059	0	0	0	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.926039	0.73327	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.30448	2.95;1.53	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.81497	2.545	0.58432	D	0.99999	D	0.89917	1.0	D	0.64410	0.925	T	0.52711	-0.8539	10	0.36615	T	0.2	-37.2059	11.1566	0.48491	0.0:0.2036:0.7964:0.0	.	213	Q96JH8	RADIL_HUMAN	C	213;187;213	ENSP00000382492:R213C;ENSP00000442533:R213C	ENSP00000320946:R187C	R	-	1	0	RADIL	4842661	1.000000	0.71417	0.998000	0.56505	0.586000	0.36452	8.168000	0.89670	2.100000	0.63781	0.462000	0.41574	CGC	.		0.731	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4876135	G	A	4876135	3	1	42	1	0	0	0	0	1	0	0	0	13042	1116	39	1	2642	1	RADIL	7	4876135	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		4876135	154262528	90	9288											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	42	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	496271	5372406	153766257	91	9289											
C7orf31	136895	broad.mit.edu;bcgsc.ca	37	chr7	25208036	25208036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatactctctttcagcGccccaaggaagcctacattg	6	16	2	0	rs148188847		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:25208036G>A	ENST00000409280.1	-	3	491	c.183C>T	c.(181-183)ggC>ggT	p.G61G	C7orf31_ENST00000283905.3_Silent_p.G61G			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	61										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTCTTTCAGCGCCCCAAGGAA	0.468																																					p.G61G		.											.	C7orf31-90	0			c.C183T						.	G		2,4404	4.2+/-10.8	0,2,2201	98	93	94		183	-11.8	0	7	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	C7orf31	NM_138811.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		61/591	25208036	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	136895	exon3			TTCAGCGCCCCAA	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.183C>T	7.37:g.25208036G>A		Somatic	167	1		WXS	Illumina GAIIx	Phase_I	221	12	NM_138811	0	0	0	0	0	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	CCDS5394.1																																																																																			G|1.000;A|0.000		0.468	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		A	25208036	G	A	25208036	2	1	42	1	0	0	0	0	0	0	0	1	2394	1074	38	1		1	C7orf31	7	25208036	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	19835630	25208036	133930627	92	9290											
HOXA4	3201	hgsc.bcm.edu	37	chr7	27170145	27170145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgtagtaggaggcagTgggctctcggccgccgcccg	18	14	1	0	rs6944345	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:27170145T>G	ENST00000360046.5	-	1	273	c.208A>C	c.(208-210)Act>Cct	p.T70P	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.T70P	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	70	Pro-rich (part of the transcriptional activation domain).		T -> P (in dbSNP:rs6944345). {ECO:0000269|PubMed:1675427}.		anatomical structure morphogenesis (GO:0009653)|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)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TAGGAGGCAGTGGGCTCTCGG	0.786													G|||	4776	0.953674	0.9062	0.9741	5008	,	,		3715	0.998		0.9652	False		,,,				2504	0.9458				p.T70P		.											.	HOXA4-153	0			c.A208C						.	G	PRO/THR	1805,121		842,121,0	1	2	1		208	2.2	1	7	dbSNP_116	1	4365,101		2133,99,1	no	missense	HOXA4	NM_002141.4	38	2975,220,1	GG,GT,TT		2.2615,6.2825,3.4731	benign	70/321	27170145	6170,222	963	2233	3196	SO:0001583	missense	3201	exon1			AGGCAGTGGGCTC		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.208A>C	7.37:g.27170145T>G	ENSP00000353151:p.Thr70Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_002141	0	0	0	0	0	A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	CCDS5405.1	2104	0.9633699633699634	448	0.9105691056910569	346	0.9558011049723757	571	0.9982517482517482	739	0.974934036939314	G	1.346	-0.592740	0.03771	0.937175	0.977385	ENSG00000197576	ENST00000360046;ENST00000428284	T;T	0.41065	1.01;1.01	4.04	2.2	0.27929	.	0.810434	0.10088	N	0.717489	T	0.00012	0.0000	N	0.00642	-1.3	0.58432	P	2.9999999999752447E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	9	0.02654	T	1	.	4.7868	0.13229	0.0827:0.148:0.6158:0.1535	rs6944345;rs61008002	70	Q00056	HXA4_HUMAN	P	70	ENSP00000353151:T70P;ENSP00000408845:T70P	ENSP00000353151:T70P	T	-	1	0	HOXA4	27136670	0.995000	0.38212	0.985000	0.45067	0.635000	0.38103	0.419000	0.21247	0.017000	0.15025	-1.892000	0.00534	ACT	T|0.037;G|0.963		0.786	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			G	27170145	T	G	27170145	3	3	42	1	0	0	0	0	1	0	0	0	7321	1696	59	5	762	5	HOXA4	7	27170145	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1962109	27170145	131968518	93	9291											
ADCYAP1R1	117	broad.mit.edu;bcgsc.ca	37	chr7	31123819	31123819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccttccctcattactTtgatgcctgtgggtttgatg	10	10	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:31123819T>A	ENST00000304166.4	+	7	681	c.392T>A	c.(391-393)tTt>tAt	p.F131Y	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.F110Y|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.F131Y|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.F131Y	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	131	Important for ligand binding and specificity.				activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCTCATTACTTTGATGCCTGT	0.542																																					p.F131Y	Ovarian(44;225 1186 2158 11092)	.											.	ADCYAP1R1-91	0			c.T392A						.						180	171	174					7																	31123819		2203	4300	6503	SO:0001583	missense	117	exon7			ATTACTTTGATGC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.392T>A	7.37:g.31123819T>A	ENSP00000306620:p.Phe131Tyr	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	219	7	NM_001118	0	0	0	0	0	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	0.411	-0.913268	0.02415	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.66	5.66	0.87406	GPCR, family 2, extracellular hormone receptor domain (3);	0.597438	0.17471	N	0.173082	T	0.33789	0.0875	N	0.13235	0.315	0.25949	N	0.982779	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.002;0.005;0.0;0.001	T	0.29488	-1.0010	10	0.02654	T	1	.	8.4105	0.32640	0.0:0.0864:0.0:0.9136	.	131;131;131;110;131	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	Y	131;110;131;131	ENSP00000306620:F131Y;ENSP00000387335:F110Y;ENSP00000379514:F131Y;ENSP00000386395:F131Y	ENSP00000306620:F131Y	F	+	2	0	ADCYAP1R1	31090344	0.022000	0.18835	0.093000	0.20910	0.233000	0.25261	1.592000	0.36676	2.144000	0.66660	0.460000	0.39030	TTT	.		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		A	31123819	T	A	31123819	3	1	42	1	0	0	0	0	1	0	0	0	303	1841	64	5	414	5	ADCYAP1R1	7	31123819	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	3953674	31123819	128014844	94	9292											
RFC2	5982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	73649931	73649931	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcgaaagatgttgccaatGatatcttctggtgagtagcc	10	8	2	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:73649931G>A	ENST00000055077.3	-	10	945	c.885C>T	c.(883-885)atC>atT	p.I295I	RFC2_ENST00000352131.3_Silent_p.I261I	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	295					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						TGTTGCCAATGATATCTTCTG	0.418																																					p.I295I		.											.	RFC2-229	0			c.C885T						.						158	155	156					7																	73649931		2203	4300	6503	SO:0001819	synonymous_variant	5982	exon10			GCCAATGATATCT		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.885C>T	7.37:g.73649931G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	168	55	NM_181471	0	0	0	0	0	B5BU07|D3DXG3|P32846|Q9BU93	Silent	SNP	ENST00000055077.3	37	CCDS5568.1																																																																																			.		0.418	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		A	73649931	G	A	73649931	2	1	42	1	0	0	0	0	0	0	0	1	13290	1280	45	3		3	RFC2	7	73649931	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	42526112	73649931	85488732	95	9293											
TRRAP	8295	broad.mit.edu	37	chr7	98529263	98529263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcactgggaagagtgtcaCggtgatcatggaaccccaca	13	10	3	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:98529263C>T	ENST00000359863.4	+	26	4036	c.3827C>T	c.(3826-3828)aCg>aTg	p.T1276M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1275M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1276M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1276					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGAGTGTCACGGTGATCATG	0.473																																					p.T1276M		.											.	TRRAP-923	0			c.C3827T						.						83	79	80					7																	98529263		2203	4300	6503	SO:0001583	missense	8295	exon26			GTGTCACGGTGAT	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3827C>T	7.37:g.98529263C>T	ENSP00000352925:p.Thr1276Met	Somatic	121	2		WXS	Illumina GAIIx	Phase_I	119	7	NM_001244580	0	0	0	0	0	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.970309|4.970309	0.92919|0.92919	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.65916	.|3.51;-0.18	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79695|0.79695	0.4490|0.4490	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.996;0.999;0.989	.|P;P;P	.|0.62184	.|0.743;0.899;0.534	T|T	0.76653|0.76653	-0.2880|-0.2880	5|10	.|0.36615	.|T	.|0.2	.|.	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1276;990;1276	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	W|M	991|1276;1276;1274	.|ENSP00000352925:T1276M;ENSP00000347733:T1276M	.|ENSP00000347733:T1276M	R|T	+|+	1|2	2|0	TRRAP|TRRAP	98367199|98367199	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.908000|0.908000	0.53690|0.53690	7.484000|7.484000	0.81180|0.81180	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGG|ACG	.		0.473	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98529263	C	T	98529263	3	4	42	1	0	0	0	0	1	0	0	0	16649	536	19	1	3925	1	TRRAP	7	98529263	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	24879332	98529263	60609400	96	9294											
MOSPD3	64598	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100212602	100212602	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaactcggcagccagctgccTcaagtcctgcacgtctccct	9	17	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:100212602T>A	ENST00000393950.2	+	4	906	c.624T>A	c.(622-624)ccT>ccA	p.P208P	MOSPD3_ENST00000424091.2_Silent_p.P198P|MOSPD3_ENST00000379527.2_Silent_p.P208P|MOSPD3_ENST00000223054.4_Silent_p.P208P	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	208					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCAGCTGCCTCAAGTCCTGC	0.612																																					p.P208P		.											.	MOSPD3-92	0			c.T624A						.						100	106	104					7																	100212602		2203	4300	6503	SO:0001819	synonymous_variant	64598	exon5			GCTGCCTCAAGTC	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.624T>A	7.37:g.100212602T>A		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	100	20	NM_001040098	0	0	0	0	0	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	CCDS5701.1																																																																																			.		0.612	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		A	100212602	T	A	100212602	2	1	42	1	0	0	0	0	0	0	0	1	9755	1538	54	5		5	MOSPD3	7	100212602	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1683339	100212602	58926061	97	9295											
C7orf58	79974	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	120768496	120768496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaaattaactcaattAtgactttcataaaggaactt	5	5	2	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:120768496A>T	ENST00000310396.5	+	11	1830	c.1363A>T	c.(1363-1365)Atg>Ttg	p.M455L	CPED1_ENST00000423795.1_Missense_Mutation_p.M235L|CPED1_ENST00000450913.2_Missense_Mutation_p.M455L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	455						endoplasmic reticulum (GO:0005783)											TAACTCAATTATGACTTTCAT	0.358																																					p.M455L		.											.	.	0			c.A1363T						.						84	87	86					7																	120768496		2203	4300	6503	SO:0001583	missense	79974	exon10			TCAATTATGACTT		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.1363A>T	7.37:g.120768496A>T	ENSP00000309772:p.Met455Leu	Somatic	270	0		WXS	Illumina GAIIx	Phase_I	306	21	NM_001105533	0	0	0	0	0	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	8.879	0.951113	0.18431	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.39997	2.39;1.05;2.07;2.06;1.66	5.74	3.32	0.38043	.	0.514561	0.22934	N	0.053867	T	0.36248	0.0960	M	0.67953	2.075	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	0.10753	-1.0616	10	0.19590	T	0.45	.	7.3276	0.26563	0.7055:0.1508:0.0:0.1437	.	235;455;455	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	455;455;455;235;235	ENSP00000309772:M455L;ENSP00000398082:M455L;ENSP00000406122:M455L;ENSP00000415573:M235L;ENSP00000391952:M235L	ENSP00000309772:M455L	M	+	1	0	C7orf58	120555732	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	1.469000	0.35343	0.424000	0.26061	-0.399000	0.06403	ATG	.		0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		T	120768496	A	T	120768496	3	4	42	1	0	0	0	0	1	0	0	0	2412	449	16	5	1401	5	C7orf58	7	120768496	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	20555894	120768496	38370167	98	9296											
FAM115A	9747	broad.mit.edu	37	chr7	143556212	143556212	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgttgatgagctcctgcactGactccagatggcacatgatg	11	11	0	5			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr7:143556212G>T	ENST00000479870.1	-	7	2418	c.2210C>A	c.(2209-2211)tCa>tAa	p.S737*	FAM115A_ENST00000392900.3_5'UTR|FAM115A_ENST00000355951.2_Nonsense_Mutation_p.S737*	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	737	Peptidase M60.									NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CTCCTGCACTGACTCCAGATG	0.572																																					p.S737X		.											.	FAM115A-68	0			c.C2210A						.						18	18	18					7																	143556212		1707	3357	5064	SO:0001587	stop_gained	9747	exon7			TGCACTGACTCCA	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.2210C>A	7.37:g.143556212G>T	ENSP00000419235:p.Ser737*	Somatic	238	1		WXS	Illumina GAIIx	Phase_I	410	19	NM_001206938	0	0	0	0	0	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Nonsense_Mutation	SNP	ENST00000479870.1	37	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	G	39	7.655445	0.98415	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	.	.	.	3.21	3.21	0.36854	.	0.133113	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8657	12.6981	0.57016	0.0:0.0:1.0:0.0	.	.	.	.	X	737	.	ENSP00000348220:S737X	S	-	2	0	FAM115A	143187145	1.000000	0.71417	0.925000	0.36789	0.992000	0.81027	7.316000	0.79007	2.102000	0.63906	0.655000	0.94253	TCA	.		0.572	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		T	143556212	G	T	143556212	4	4	42	1	0	0	0	0	0	1	0	0	5424	1294	45	3	567	3	FAM115A	7	143556212	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	22787716	143556212	15582451	99	9297											
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	2040266	2040266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctaagcatgaggaggacCtgctgggctactacgtggac	14	10	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:2040266C>A	ENST00000262113.4	+	16	2062	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	MYOM2_ENST00000523438.1_Missense_Mutation_p.L66M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	641	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAGGAGGACCTGCTGGGCTA	0.602																																					p.L641M		.											.	MYOM2-95	0			c.C1921A						.						178	145	157					8																	2040266		2203	4300	6503	SO:0001583	missense	9172	exon16			GAGGACCTGCTGG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1921C>A	8.37:g.2040266C>A	ENSP00000262113:p.Leu641Met	Somatic	218	1		WXS	Illumina GAIIx	Phase_I	265	126	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450404	0.63290	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.58652	0.32;0.32	5.72	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.79275	0.4418	M	0.93150	3.385	0.36612	D	0.875249	D	0.89917	1.0	D	0.97110	1.0	D	0.83425	0.0035	10	0.66056	D	0.02	.	8.5707	0.33567	0.0:0.6914:0.0:0.3086	.	641	P54296	MYOM2_HUMAN	M	641;66	ENSP00000262113:L641M;ENSP00000428396:L66M	ENSP00000262113:L641M	L	+	1	2	MYOM2	2027673	0.998000	0.40836	0.996000	0.52242	0.865000	0.49528	0.942000	0.29017	0.784000	0.33661	0.555000	0.69702	CTG	.		0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2040266	C	A	2040266	3	1	42	1	0	0	0	0	1	0	0	0	10130	680	24	3	1979	3	MYOM2	8	2040266	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		2040266	144323756	100	9298											
SGK223	157285	broad.mit.edu	37	chr8	8239069	8239069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcggcagttctcaggCctgggaggcaggcgcggtgg	19	11	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:8239069C>A	ENST00000520004.1	-	2	453	c.189G>T	c.(187-189)agG>agT	p.R63S	SGK223_ENST00000330777.4_Missense_Mutation_p.R63S			Q86YV5	SG223_HUMAN		63							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGTTCTCAGGCCTGGGAGGCA	0.657																																					p.R63S	GBM(34;731 755 10259 33573 33867)	.											.	.	0			c.G189T						.						48	49	49					8																	8239069		2004	4157	6161	SO:0001583	missense	0	exon1			CTCAGGCCTGGGA																												ENST00000520004.1:c.189G>T	8.37:g.8239069C>A	ENSP00000428054:p.Arg63Ser	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	92	9	NM_001080826	0	0	0	0	0	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236881	0.39498	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59083	0.29;0.29	4.49	2.69	0.31865	.	0.226672	0.30658	N	0.009160	T	0.41696	0.1170	L	0.38531	1.155	0.27832	N	0.941416	B	0.31968	0.349	B	0.24701	0.055	T	0.44802	-0.9304	10	0.72032	D	0.01	.	8.2345	0.31618	0.0:0.7459:0.0:0.2541	.	63	Q86YV5	SG223_HUMAN	S	63	ENSP00000330930:R63S;ENSP00000428054:R63S	ENSP00000330930:R63S	R	-	3	2	AC068353.1	8276479	1.000000	0.71417	0.887000	0.34795	0.775000	0.43874	0.980000	0.29513	1.272000	0.44329	-0.230000	0.12252	AGG	.		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8239069	C	A	8239069	3	1	42	1	0	0	0	0	1	0	0	0	14255	738	26	3	4039	3	SGK223	8	8239069	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	6198803	8239069	138124953	101	9299											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139793209	139793209	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctcccaggggggccgggCaggcccagggaaccctaaag	15	14	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:139793209C>A	ENST00000303045.6	-	13	2057	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	COL22A1_ENST00000435777.1_Silent_p.L537L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	537	Collagen-like 2.|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)			GGGGGCCGGGCAGGCCCAGGG	0.537										HNSCC(7;0.00092)																											p.L537L		.											.	COL22A1-103	0			c.G1611T						.						73	77	76					8																	139793209		2203	4300	6503	SO:0001819	synonymous_variant	169044	exon13			GCCGGGCAGGCCC	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.1611G>T	8.37:g.139793209C>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	76	39	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			.		0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139793209	C	A	139793209	2	1	42	1	0	0	0	0	0	0	0	1	3688	697	25	3		3	COL22A1	8	139793209	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	131554140	139793209	6570813	102	9300											
FAM83H	286077	hgsc.bcm.edu	37	chr8	144808866	144808866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaccggactgctcctgCgctccggcacggggggcacc	17	16	0	0	rs431825180		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:144808866C>T	ENST00000388913.3	-	5	2890	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	922					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTGCTCCTGCGCTCCGGCAC	0.711																																					p.R922H		.											.	FAM83H-92	0			c.G2765A						.						6	8	7					8																	144808866		1899	3968	5867	SO:0001583	missense	286077	exon5			CTCCTGCGCTCCG	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2765G>A	8.37:g.144808866C>T	ENSP00000373565:p.Arg922His	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	34	12	NM_198488	0	0	0	0	0	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	14.68	2.608321	0.46527	.	.	ENSG00000180921	ENST00000388913	T	0.15487	2.42	4.68	2.72	0.32119	.	0.742449	0.11596	N	0.548220	T	0.10852	0.0265	L	0.27053	0.805	0.09310	N	0.999991	B	0.15473	0.013	B	0.06405	0.002	T	0.24048	-1.0171	10	0.44086	T	0.13	.	4.408	0.11418	0.0:0.6068:0.1876:0.2057	.	922	Q6ZRV2	FA83H_HUMAN	H	922	ENSP00000373565:R922H	ENSP00000373565:R922H	R	-	2	0	FAM83H	144880854	0.996000	0.38824	0.989000	0.46669	0.341000	0.28922	0.331000	0.19733	0.979000	0.38497	0.500000	0.49745	CGC	.		0.711	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144808866	C	T	144808866	3	4	42	1	0	0	0	0	1	0	0	0	5662	768	27	1	778	1	FAM83H	8	144808866	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	5015657	144808866	1555156	103	9301											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998169	144998169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccgctcctcctccgcCgccagctgccgctgcctcgc	10	24	0	0	rs1140522	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000357649.2_Silent_p.A1980A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5	7	6		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998169	C	T	144998169	2	4	42	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998169	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	189303	144998169	1365853	104	9302											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	22	15	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	42	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	21	144998190	1365832	105	9303											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	56	40	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	42	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	3594	145001784	1362238	106	9304											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	91	86	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	42	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		5832728	135380703	107	9305											
UHRF2	115426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	6460639	6460639	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacgagctagaaccattttGaaatggaatgaactaaatgt	8	7	0	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:6460639G>C	ENST00000276893.5	+	4	879	c.711G>C	c.(709-711)ttG>ttC	p.L237F		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	237	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GAACCATTTTGAAATGGAATG	0.373																																					p.L237F		.											.	UHRF2-721	0			c.G711C						.						109	111	110					9																	6460639		2203	4300	6503	SO:0001583	missense	115426	exon4			CATTTTGAAATGG	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.711G>C	9.37:g.6460639G>C	ENSP00000276893:p.Leu237Phe	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	85	11	NM_152896	0	0	0	0	0	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598527	0.66332	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.87809	-2.3;0.6	5.97	2.92	0.33932	Domain of unknown function DUF3590 (1);	0.075523	0.53938	D	0.000058	D	0.89255	0.6663	M	0.61703	1.905	0.80722	D	1	D;D	0.59767	0.97;0.986	P;D	0.63597	0.898;0.916	D	0.87332	0.2325	10	0.87932	D	0	-6.465	4.9406	0.13963	0.2415:0.0:0.6131:0.1454	.	14;237	B3KV82;Q96PU4	.;UHRF2_HUMAN	F	237;14	ENSP00000276893:L237F;ENSP00000399217:L14F	ENSP00000276893:L237F	L	+	3	2	UHRF2	6450639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.811000	0.38942	0.774000	0.33427	0.585000	0.79938	TTG	.		0.373	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		C	6460639	G	C	6460639	3	2	42	1	0	0	0	0	1	0	0	0	17019	1281	45	3	725	3	UHRF2	9	6460639	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	627911	6460639	134752792	108	9306											
UHRF2	115426	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	6460721	6460721	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacaaagaggattctggtttGatgcagaaattaccacattg	10	6	1	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:6460721G>C	ENST00000276893.5	+	4	961	c.793G>C	c.(793-795)Gat>Cat	p.D265H		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	265	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATTCTGGTTTGATGCAGAAAT	0.363																																					p.D265H		.											.	UHRF2-721	0			c.G793C						.						119	122	121					9																	6460721		2203	4300	6503	SO:0001583	missense	115426	exon4			TGGTTTGATGCAG	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.793G>C	9.37:g.6460721G>C	ENSP00000276893:p.Asp265His	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	110	12	NM_152896	0	0	0	0	0	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723019	0.89298	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.91068	-2.78;0.02	5.97	5.97	0.96955	.	0.102387	0.64402	D	0.000005	D	0.95408	0.8509	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95158	0.8279	10	0.87932	D	0	-23.4782	20.0428	0.97598	0.0:0.0:1.0:0.0	.	42;265	B3KV82;Q96PU4	.;UHRF2_HUMAN	H	265;42	ENSP00000276893:D265H;ENSP00000399217:D42H	ENSP00000276893:D265H	D	+	1	0	UHRF2	6450721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.873000	0.92357	2.833000	0.97629	0.585000	0.79938	GAT	.		0.363	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		C	6460721	G	C	6460721	3	2	42	1	0	0	0	0	1	0	0	0	17019	1290	45	3	807	3	UHRF2	9	6460721	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	82	6460721	134752710	109	9307											
AQP7	364	ucsc.edu	37	chr9	33385287	33385287	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagttctccccatTgctgcaggcaagaggcagag	10	15	1	2	rs74557595		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:33385287T>C	ENST00000537089.1	-	0	1145				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)		TTCTCCCCATTGCTGCAGGCA	0.612																																					p.N249D		.											.	AQP7-90	0			c.A745G						.						59	62	61					9																	33385287		2202	4298	6500	SO:0001624	3_prime_UTR_variant	364	exon8			CCCCATTGCTGCA	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.*329A>G	9.37:g.33385287T>C		Somatic	36	3		WXS	Illumina GAIIx	Phase_I	34	10	NM_001170	0	0	0	0	0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	c	9.798	1.179797	0.21787	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000439678	T;T;T	0.11063	2.81;2.81;2.81	4.27	3.35	0.38373	Aquaporin-like (2);	.	.	.	.	T	0.07683	0.0193	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	8	0.39692	T	0.17	-1.4238	6.1852	0.20493	0.0:0.7595:0.0:0.2405	.	249	O14520	AQP7_HUMAN	D	248;249;157	ENSP00000368821:N248D;ENSP00000297988:N249D;ENSP00000410138:N157D	ENSP00000297988:N249D	N	-	1	0	AQP7	33375287	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.126000	0.15769	0.443000	0.26582	-0.251000	0.11542	AAT	.		0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		C	33385287	T	C	33385287	1	2	42	0	1	0	0	0	0	0	0	0	831	1826	63	4		4	AQP7	9	33385287	3'UTR	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	26924566	33385287	107828144	110	9308											
FAM75A6	389730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagggttggcggtgggacAggggctgggcctggaaaagc	20	6	0	0	rs530611724	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:43627272A>G	ENST00000332857.6	-	4	1443	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	472					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGTGGGACAGGGGCTGGGC	0.522													A|||	3	0.000599042	0	0.0014	5008	,	,		14261	0		0.001	False		,,,				2504	0.001				p.L472P		.											.	.	0			c.T1415C						.						94	109	105					9																	43627272		616	1533	2149	SO:0001583	missense	389730	exon4			TGGGACAGGGGCT		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.1415T>C	9.37:g.43627272A>G	ENSP00000329825:p.Leu472Pro	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	95	20	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079525	0.20309	.	.	ENSG00000185775	ENST00000332857	T	0.24723	1.84	2.26	-0.312	0.12758	.	1.322040	0.05368	N	0.534949	T	0.18130	0.0435	L	0.35644	1.08	0.18873	N	0.999986	P	0.40398	0.716	B	0.37780	0.258	T	0.17930	-1.0353	10	0.42905	T	0.14	0.4866	2.7066	0.05164	0.5587:0.2757:0.1656:0.0	.	472	Q5VVP1	F75A6_HUMAN	P	472	ENSP00000329825:L472P	ENSP00000329825:L472P	L	-	2	0	FAM75A6	43567268	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.175000	0.09825	-0.064000	0.13043	-0.875000	0.02981	CTG	.		0.522	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		G	43627272	A	G	43627272	3	3	42	1	0	0	0	0	1	0	0	0	5644	188	7	4	2620	4	FAM75A6	9	43627272	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	10241985	43627272	97586159	111	9309											
TRPM3	80036	broad.mit.edu;bcgsc.ca	37	chr9	73457979	73457979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcaatacctatggtGcatatctttcctcgagactt	10	10	1	1	rs146744968		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:73457979G>C	ENST00000377111.2	-	5	984	c.741C>G	c.(739-741)tgC>tgG	p.C247W	TRPM3_ENST00000396285.1_Missense_Mutation_p.C94W|TRPM3_ENST00000396292.4_Missense_Mutation_p.C94W|TRPM3_ENST00000361823.5_Missense_Mutation_p.C94W|TRPM3_ENST00000377105.1_Missense_Mutation_p.C94W|TRPM3_ENST00000377097.3_Missense_Mutation_p.C94W|TRPM3_ENST00000396283.1_Missense_Mutation_p.C94W|TRPM3_ENST00000377110.3_Missense_Mutation_p.C247W|TRPM3_ENST00000423814.3_Missense_Mutation_p.C249W|TRPM3_ENST00000377106.1_Missense_Mutation_p.C94W|TRPM3_ENST00000360823.2_Missense_Mutation_p.C94W|TRPM3_ENST00000408909.2_Missense_Mutation_p.C94W|TRPM3_ENST00000358082.3_Missense_Mutation_p.C94W|TRPM3_ENST00000377101.1_Missense_Mutation_p.C94W|TRPM3_ENST00000357533.2_Missense_Mutation_p.C249W|TRPM3_ENST00000396280.5_Missense_Mutation_p.C94W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	247					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TACCTATGGTGCATATCTTTC	0.433																																					p.C247W		.											.	TRPM3-521	0			c.C741G						.						91	82	85					9																	73457979		2203	4300	6503	SO:0001583	missense	80036	exon5			TATGGTGCATATC	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.741C>G	9.37:g.73457979G>C	ENSP00000366315:p.Cys247Trp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	123	6	NM_001007471	0	0	0	0	0	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.57|11.57|11.57	1.676796|1.676796|1.676796	0.29783|0.29783|0.29783	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000396280	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.36340|.	.|4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;4.08;1.26|.	5.61|5.61|5.61	-0.574|-0.574|-0.574	0.11738|0.11738|0.11738	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.59115|0.59115|0.59115	0.2170|0.2170|0.2170	L|L|L	0.57536|0.57536|0.57536	1.79|1.79|1.79	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;B;B;B;B;D;B;B;D;B;B|.	.|0.76494|.	.|0.481;0.185;0.012;0.019;0.062;0.999;0.014;0.023;0.999;0.092;0.162|.	.|B;B;B;B;B;D;B;B;D;B;B|.	.|0.79784|.	.|0.122;0.12;0.012;0.062;0.038;0.993;0.029;0.028;0.993;0.064;0.085|.	T|T|T	0.55648|0.55648|0.55648	-0.8108|-0.8108|-0.8108	5|10|5	.|0.41790|.	.|T|.	.|0.15|.	-13.8643|-13.8643|-13.8643	10.7021|10.7021|10.7021	0.45933|0.45933|0.45933	0.371:0.0:0.629:0.0|0.371:0.0:0.629:0.0|0.371:0.0:0.629:0.0	.|.|.	.|247;249;94;247;247;247;249;94;94;247;94|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	G|W|D	137|247;247;94;94;94;249;94;94;94;94;249;94;94;94;94|94	.|ENSP00000366315:C247W;ENSP00000366314:C247W;ENSP00000366310:C94W;ENSP00000354066:C94W;ENSP00000366309:C94W;ENSP00000350140:C249W;ENSP00000386127:C94W;ENSP00000379581:C94W;ENSP00000379587:C94W;ENSP00000350791:C94W;ENSP00000389542:C249W;ENSP00000366305:C94W;ENSP00000379579:C94W;ENSP00000355395:C94W|.	.|ENSP00000350140:C249W|.	A|C|H	-|-|-	2|3|1	0|2|0	TRPM3|TRPM3|TRPM3	72647799|72647799|72647799	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	0.704000|0.704000|0.704000	0.25661|0.25661|0.25661	-0.036000|-0.036000|-0.036000	0.13669|0.13669|0.13669	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|TGC|CAC	G|1.000;A|0.000		0.433	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		C	73457979	G	C	73457979	3	2	42	1	0	0	0	0	1	0	0	0	16635	1311	46	3	4589	3	TRPM3	9	73457979	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	29830707	73457979	67755452	112	9310											
GADD45G	10912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	92220393	92220393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttgctgctgtcggcgCagcgtcagggctgcctcact	14	12	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:92220393C>T	ENST00000252506.6	+	2	209	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Nonsense_Mutation_p.Q16*	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	34				QR -> HG (in Ref. 4; AAK00414). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						GCTGTCGGCGCAGCGTCAGGG	0.687																																					p.Q34X	Colon(131;320 2336 18973 23919)	.											.	GADD45G-514	0			c.C100T						.						9	11	10					9																	92220393		2159	4223	6382	SO:0001587	stop_gained	10912	exon2			TCGGCGCAGCGTC	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"gadd-related protein, 17 kD", "growth arrest and DNA-damage-inducible gamma"	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.100C>T	9.37:g.92220393C>T	ENSP00000252506:p.Gln34*	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	83	37	NM_006705	0	0	0	0	0	Q5VZ87|Q9C076	Nonsense_Mutation	SNP	ENST00000252506.6	37	CCDS6686.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305557	0.81247	.	.	ENSG00000130222	ENST00000252506;ENST00000375769	.	.	.	4.34	4.34	0.51931	.	0.173137	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6615	15.9877	0.80174	0.0:1.0:0.0:0.0	.	.	.	.	X	34;16	.	ENSP00000252506:Q34X	Q	+	1	0	GADD45G	91410213	1.000000	0.71417	0.966000	0.40874	0.386000	0.30323	3.405000	0.52630	2.415000	0.81967	0.561000	0.74099	CAG	.		0.687	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705		T	92220393	C	T	92220393	4	4	42	1	0	0	0	0	0	1	0	0	6207	711	25	3	106	3	GADD45G	9	92220393	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	18762414	92220393	48993038	113	9311											
BAAT	570	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	104124861	104124861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaggcacagcacagaggaGaatagggaggttctatcagg	15	6	2	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:104124861G>T	ENST00000395051.3	-	3	1176	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y	BAAT_ENST00000259407.2_Missense_Mutation_p.S369Y			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	369					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCACAGAGGAGAATAGGGAGG	0.547																																					p.S369Y		.											.	BAAT-228	0			c.C1106A						.						204	176	185					9																	104124861		2203	4300	6503	SO:0001583	missense	570	exon4			AGAGGAGAATAGG	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1106C>A	9.37:g.104124861G>T	ENSP00000378491:p.Ser369Tyr	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	194	79	NM_001127610	0	0	0	0	0	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121265	0.37436	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.30981	1.51;1.51	4.96	3.12	0.35913	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.484770	0.20376	N	0.093545	T	0.49592	0.1566	M	0.80422	2.495	0.09310	N	1	D	0.60575	0.988	P	0.61533	0.89	T	0.36187	-0.9758	10	0.48119	T	0.1	-2.0782	8.4374	0.32795	0.0855:0.1559:0.7586:0.0	.	369	Q14032	BAAT_HUMAN	Y	369	ENSP00000259407:S369Y;ENSP00000378491:S369Y	ENSP00000259407:S369Y	S	-	2	0	BAAT	103164682	0.000000	0.05858	0.019000	0.16419	0.316000	0.28119	0.655000	0.24933	0.676000	0.31285	0.655000	0.94253	TCT	.		0.547	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			T	104124861	G	T	104124861	3	4	42	1	0	0	0	0	1	0	0	0	1281	942	33	3	154	3	BAAT	9	104124861	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	11904468	104124861	37088570	114	9312											
OR13C3	138803	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	107298937	107298937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaagtaaacaatctcaAtctttgggtatccagaaaga	8	7	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:107298937A>G	ENST00000374781.2	-	1	200	c.158T>C	c.(157-159)aTt>aCt	p.I53T		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	53						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(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AACAATCTCAATCTTTGGGTA	0.373																																					p.I53T	GBM(86;1248 1274 14222 15028 46219)	.											.	OR13C3-69	0			c.T158C						.						90	85	87					9																	107298937		2203	4300	6503	SO:0001583	missense	138803	exon1			ATCTCAATCTTTG		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.158T>C	9.37:g.107298937A>G	ENSP00000363913:p.Ile53Thr	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	183	32	NM_001001961	0	0	0	0	0	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	A	2.552	-0.303883	0.05495	.	.	ENSG00000204246	ENST00000374781	T	0.09073	3.02	4.81	-1.17	0.09648	.	0.746559	0.11361	N	0.571906	T	0.04770	0.0129	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38394	-0.9663	10	0.51188	T	0.08	.	9.0435	0.36331	0.5422:0.0:0.4578:0.0	.	53	Q8NGS6	O13C3_HUMAN	T	53	ENSP00000363913:I53T	ENSP00000363913:I53T	I	-	2	0	OR13C3	106338758	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.239000	0.18023	-0.243000	0.09653	-0.290000	0.09829	ATT	.		0.373	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			G	107298937	A	G	107298937	3	3	42	1	0	0	0	0	1	0	0	0	10974	101	4	4	889	4	OR13C3	9	107298937	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	3174076	107298937	33914494	115	9313											
DFNB31	25861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117185706	117185706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcctgggggctgccgcGccttcatggactcaatctca	14	14	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:117185706G>A	ENST00000362057.3	-	7	1682	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	DFNB31_ENST00000374059.3_Missense_Mutation_p.A154V|DFNB31_ENST00000265134.6_Missense_Mutation_p.A122V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	505					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCTGCCGCGCCTTCATGGA	0.627																																					p.A505V		.											.	DFNB31-95	0			c.C1514T						.						81	79	80					9																	117185706		2203	4300	6503	SO:0001583	missense	25861	exon7			TGCCGCGCCTTCA	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1514C>T	9.37:g.117185706G>A	ENSP00000354623:p.Ala505Val	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	187	47	NM_001173425	0	0	0	0	0	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833527	0.91036	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.10573	3.74;3.71;2.86	5.3	4.39	0.52855	.	0.259072	0.37178	N	0.002205	T	0.30417	0.0764	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.69479	0.823;0.823;0.964	T	0.04005	-1.0985	10	0.66056	D	0.02	-23.6157	15.147	0.72662	0.0:0.0:0.8575:0.1425	.	505;505;154	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	V	122;154;505	ENSP00000265134:A122V;ENSP00000363172:A154V;ENSP00000354623:A505V	ENSP00000265134:A122V	A	-	2	0	DFNB31	116225527	1.000000	0.71417	0.842000	0.33263	0.958000	0.62258	8.960000	0.93117	1.204000	0.43247	0.555000	0.69702	GCG	.		0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		A	117185706	G	A	117185706	3	1	42	1	0	0	0	0	1	0	0	0	4469	1087	38	1	1233	1	DFNB31	9	117185706	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	9886769	117185706	24027725	116	9314											
TRIM32	22954	ucsc.edu	37	chr9	119460913	119460913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggacaagctgttaagaagCcccggacagttaacgtggaa	12	8	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:119460913C>G	ENST00000450136.1	+	2	1053	c.892C>G	c.(892-894)Ccc>Gcc	p.P298A	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P298A|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	298					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						TGTTAAGAAGCCCCGGACAGT	0.557																																					p.P298A	Esophageal Squamous(92;212 1916 19711 26951)	.											.	TRIM32-650	0			c.C892G						.						55	46	49					9																	119460913		2203	4300	6503	SO:0001583	missense	22954	exon2			AAGAAGCCCCGGA	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.892C>G	9.37:g.119460913C>G	ENSP00000408292:p.Pro298Ala	Somatic	73	2		WXS	Illumina GAIIx	Phase_I	85	9	NM_012210	0	0	0	0	0	Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325663	0.24080	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83673	-1.75;-1.75	5.35	5.35	0.76521	.	0.078613	0.51477	D	0.000096	T	0.75155	0.3811	L	0.27053	0.805	0.48236	D	0.999612	B	0.29212	0.237	B	0.28553	0.091	T	0.70714	-0.4796	9	.	.	.	-19.2421	19.0705	0.93134	0.0:1.0:0.0:0.0	.	298	Q13049	TRI32_HUMAN	A	298	ENSP00000408292:P298A;ENSP00000363095:P298A	.	P	+	1	0	TRIM32	118500734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.662000	0.61525	2.482000	0.83794	0.650000	0.86243	CCC	.		0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		G	119460913	C	G	119460913	3	3	42	1	0	0	0	0	1	0	0	0	16554	739	26	3	894	3	TRIM32	9	119460913	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2275207	119460913	21752518	117	9315											
CRB2	286204	hgsc.bcm.edu	37	chr9	126136139	126136139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgtggccgctgtcacaCgcaccccgacggccgcttcg	12	20	1	0	rs73571431	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:126136139C>T	ENST00000373631.3	+	10	3330	c.3329C>T	c.(3328-3330)aCg>aTg	p.T1110M	CRB2_ENST00000373629.2_Missense_Mutation_p.T778M|CRB2_ENST00000359999.3_Missense_Mutation_p.T1110M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1110	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.		T -> M (in dbSNP:rs73571431). {ECO:0000269|PubMed:15851977}.		cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGTCACACGCACCCCGAC	0.771													C|||	530	0.105831	0.1059	0.1873	5008	,	,		9885	0.0764		0.1412	False		,,,				2504	0.0419				p.T1110M		.											.	CRB2-91	0			c.C3329T						.	C	MET/THR	273,2733		10,253,1240	3	3	3		3329	2.8	0.1	9	dbSNP_131	3	523,5481		24,475,2503	no	missense	CRB2	NM_173689.5	81	34,728,3743	TT,TC,CC		8.7109,9.0818,8.8346	possibly-damaging	1110/1286	126136139	796,8214	1503	3002	4505	SO:0001583	missense	286204	exon10			GTCACACGCACCC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3329C>T	9.37:g.126136139C>T	ENSP00000362734:p.Thr1110Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	4	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	272	0.12454212454212454	60	0.12195121951219512	50	0.13812154696132597	56	0.0979020979020979	106	0.13984168865435356	.	6.539	0.467763	0.12402	0.090818	0.087109	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.90732	-2.1;-2.0;-2.72	3.77	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.339200	0.05453	N	0.549893	T	0.01976	0.0062	N	0.12746	0.255	0.80722	P	0.0	P;D	0.56521	0.925;0.976	B;B	0.38562	0.101;0.276	T	0.57100	-0.7869	9	0.36615	T	0.2	.	3.1184	0.06382	0.0:0.4522:0.2781:0.2698	.	1110;1110	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	M	1110;1110;778	ENSP00000353092:T1110M;ENSP00000362734:T1110M;ENSP00000362732:T778M	ENSP00000353092:T1110M	T	+	2	0	CRB2	125175960	0.000000	0.05858	0.081000	0.20488	0.039000	0.13416	0.001000	0.13038	1.929000	0.55896	0.455000	0.32223	ACG	C|0.875;T|0.125		0.771	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126136139	C	T	126136139	3	4	42	1	0	0	0	0	1	0	0	0	3856	536	19	1	3367	1	CRB2	9	126136139	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	6675226	126136139	15077292	118	9316											
USP20	10868	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	132637739	132637739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccatcaccaaccagacCttcctctgctcccacggagg	8	19	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:132637739C>T	ENST00000315480.4	+	20	2357	c.2199C>T	c.(2197-2199)acC>acT	p.T733T	USP20_ENST00000372429.3_Silent_p.T733T|USP20_ENST00000358355.1_Silent_p.T733T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	733	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCAACCAGACCTTCCTCTGCT	0.667																																					p.T733T		.											.	USP20-658	0			c.C2199T						.						55	63	60					9																	132637739		2074	4197	6271	SO:0001819	synonymous_variant	10868	exon20			CCAGACCTTCCTC	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.2199C>T	9.37:g.132637739C>T		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	122	16	NM_001008563	0	0	0	0	0	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	CCDS43892.1																																																																																			.		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132637739	C	T	132637739	2	4	42	1	0	0	0	0	0	0	0	1	17101	668	24	3		3	USP20	9	132637739	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	6501600	132637739	8575692	119	9317											
ABL1	25	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	133760173	133760173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctcgggcctcccccaCaaggaagaagctggaaaggg	13	14	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:133760173C>T	ENST00000318560.5	+	11	2877	c.2496C>T	c.(2494-2496)caC>caT	p.H832H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	832	Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCTCCCCCACAAGGAAGAAG	0.667			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																p.H851H		.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1-3810	0			c.C2553T						.						17	20	19					9																	133760173		2199	4281	6480	SO:0001819	synonymous_variant	25	exon11			CCCCCACAAGGAA	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2496C>T	9.37:g.133760173C>T		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	171	51	NM_007313	0	0	0	0	0	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			.		0.667	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133760173	C	T	133760173	2	4	42	1	0	0	0	0	0	0	0	1	92	477	17	3		3	ABL1	9	133760173	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1122434	133760173	7453258	120	9318											
SARDH	1757	broad.mit.edu	37	chr9	136577795	136577795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatggatgatccagtggGccagctcctgcccacagcca	11	16	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr9:136577795G>T	ENST00000371872.4	-	10	1531	c.1274C>A	c.(1273-1275)gCc>gAc	p.A425D	SARDH_ENST00000439388.1_Missense_Mutation_p.A425D|SARDH_ENST00000422262.2_Missense_Mutation_p.A257D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	425					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)		GATCCAGTGGGCCAGCTCCTG	0.632																																					p.A425D		.											.	SARDH-90	0			c.C1274A						.						58	59	58					9																	136577795		2203	4300	6503	SO:0001583	missense	1757	exon10			CAGTGGGCCAGCT		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.1274C>A	9.37:g.136577795G>T	ENSP00000360938:p.Ala425Asp	Somatic	36	2		WXS	Illumina GAIIx	Phase_I	53	8	NM_007101	0	0	0	0	0	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779520	0.90195	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.86432	-2.12;-2.12;-2.12	4.27	4.27	0.50696	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97450	1.0027	10	0.87932	D	0	-26.005	16.727	0.85424	0.0:0.0:1.0:0.0	.	425	Q9UL12	SARDH_HUMAN	D	425;425;257;425;425	ENSP00000360938:A425D;ENSP00000403084:A425D;ENSP00000415537:A257D	ENSP00000360938:A425D	A	-	2	0	SARDH	135567616	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.441000	0.97557	1.930000	0.55929	0.467000	0.42956	GCC	.		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			T	136577795	G	T	136577795	3	4	42	1	0	0	0	0	1	0	0	0	13886	1203	42	3	1530	3	SARDH	9	136577795	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2817622	136577795	4635636	121	9319											
LIPN	643418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	90528645	90528645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaaatatcccacgggcaTttttaccaggttttttctac	5	10	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr10:90528645T>C	ENST00000404459.1	+	5	632	c.632T>C	c.(631-633)aTt>aCt	p.I211T		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	211					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCACGGGCATTTTTACCAGG	0.388																																					p.I211T		.											.	.	0			c.T632C						.						101	96	97					10																	90528645		1803	4064	5867	SO:0001583	missense	643418	exon5			CGGGCATTTTTAC		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.632T>C	10.37:g.90528645T>C	ENSP00000383923:p.Ile211Thr	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	68	33	NM_001102469	0	0	0	0	0	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	T	8.596	0.885690	0.17540	.	.	ENSG00000204020	ENST00000404459	T	0.70282	-0.47	4.6	3.42	0.39159	Alpha/beta hydrolase fold-1 (1);	0.645960	0.14322	N	0.326970	T	0.59307	0.2184	L	0.42487	1.325	0.09310	N	1	B	0.29955	0.263	B	0.29440	0.102	T	0.54629	-0.8265	10	0.56958	D	0.05	-11.6782	6.2337	0.20750	0.0:0.1838:0.0:0.8162	.	211	Q5VXI9	LIPN_HUMAN	T	211	ENSP00000383923:I211T	ENSP00000383923:I211T	I	+	2	0	LIPN	90518625	0.530000	0.26330	0.211000	0.23655	0.817000	0.46193	3.332000	0.52083	1.923000	0.55706	0.477000	0.44152	ATT	.		0.388	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		C	90528645	T	C	90528645	3	2	42	1	0	0	0	0	1	0	0	0	8858	1493	52	4	650	4	LIPN	10	90528645	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10		90528645	45006102	122	9320											
IFIT1B	439996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	91143636	91143636	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccgtctatcgcctggAtaaatttaacacagcatcag	6	11	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr10:91143636A>T	ENST00000371809.3	+	2	646	c.566A>T	c.(565-567)gAt>gTt	p.D189V	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	189										endometrium(2)|large_intestine(3)|lung(8)	13						TATCGCCTGGATAAATTTAAC	0.443																																					p.D189V		.											.	IFIT1B-90	0			c.A566T						.						213	221	218					10																	91143636		2203	4300	6503	SO:0001583	missense	439996	exon2			GCCTGGATAAATT		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.566A>T	10.37:g.91143636A>T	ENSP00000360874:p.Asp189Val	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	79	12	NM_001010987	0	0	0	0	0	A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913428	0.52439	.	.	ENSG00000204010	ENST00000371809	T	0.64260	-0.09	4.58	3.43	0.39272	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.420734	0.24033	U	0.042174	T	0.74419	0.3714	M	0.87180	2.865	0.23903	N	0.996513	D	0.67145	0.996	P	0.56563	0.801	T	0.66408	-0.5931	10	0.48119	T	0.1	.	9.2122	0.37326	0.9129:0.0:0.0871:0.0	.	189	Q5T764	IFT1B_HUMAN	V	189	ENSP00000360874:D189V	ENSP00000360874:D189V	D	+	2	0	IFIT1B	91133616	0.998000	0.40836	0.018000	0.16275	0.053000	0.15095	4.409000	0.59768	0.603000	0.29913	0.455000	0.32223	GAT	.		0.443	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		T	91143636	A	T	91143636	3	4	42	1	0	0	0	0	1	0	0	0	7549	333	12	5	572	5	IFIT1B	10	91143636	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	614991	91143636	44391111	123	9321											
PLCE1	51196	broad.mit.edu;bcgsc.ca	37	chr10	95931233	95931233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcacaatgcccttgaagatCtggtgatgaggtttaatgag	12	6	1	5			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr10:95931233C>G	ENST00000371380.3	+	3	2024	c.1789C>G	c.(1789-1791)Ctg>Gtg	p.L597V	PLCE1_ENST00000371375.1_Missense_Mutation_p.L289V|PLCE1_ENST00000371385.3_Missense_Mutation_p.L289V|PLCE1_ENST00000260766.3_Missense_Mutation_p.L597V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	597	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTTGAAGATCTGGTGATGAG	0.473																																					p.L597V		.											.	PLCE1-229	0			c.C1789G						.						104	103	103					10																	95931233		2010	4174	6184	SO:0001583	missense	51196	exon4			GAAGATCTGGTGA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1789C>G	10.37:g.95931233C>G	ENSP00000360431:p.Leu597Val	Somatic	252	0		WXS	Illumina GAIIx	Phase_I	269	9	NM_016341	0	0	0	0	0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696528	0.88830	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.84	5.84	0.93424	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.079841	0.51477	D	0.000092	T	0.58722	0.2142	M	0.69823	2.125	0.53688	D	0.999971	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.59182	-0.7502	10	0.87932	D	0	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	597;289;597	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	597;597;289;289	ENSP00000260766:L597V;ENSP00000360431:L597V;ENSP00000360438:L289V;ENSP00000360426:L289V	ENSP00000260766:L597V	L	+	1	2	PLCE1	95921223	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.840000	0.75369	2.758000	0.94735	0.655000	0.94253	CTG	.		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		G	95931233	C	G	95931233	3	3	42	1	0	0	0	0	1	0	0	0	12073	912	32	3	2085	3	PLCE1	10	95931233	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	4787597	95931233	39603514	124	9322											
CCDC147	159686	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	106159171	106159171	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagacaaaacactttattgaAaagcaagaagctgaagagag	10	5	0	5			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr10:106159171A>T	ENST00000369704.3	+	12	1862	c.1728A>T	c.(1726-1728)gaA>gaT	p.E576D	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		576						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)		ACTTTATTGAAAAGCAAGAAG	0.458																																					p.E576D		.											.	CCDC147-71	0			c.A1728T						.						69	68	68					10																	106159171		2203	4300	6503	SO:0001583	missense	159686	exon12			TATTGAAAAGCAA																												ENST00000369704.3:c.1728A>T	10.37:g.106159171A>T	ENSP00000358718:p.Glu576Asp	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	89	15	NM_001008723	0	0	0	0	0	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843401	0.32606	.	.	ENSG00000120051	ENST00000369704	T	0.44083	0.93	5.54	1.78	0.24846	.	0.201998	0.52532	N	0.000073	T	0.23249	0.0562	L	0.31207	0.915	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.06935	-1.0799	10	0.25106	T	0.35	-8.7297	2.4815	0.04588	0.6173:0.1277:0.1324:0.1226	.	576	Q5T655	CC147_HUMAN	D	576	ENSP00000358718:E576D	ENSP00000358718:E576D	E	+	3	2	CCDC147	106149161	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.211000	0.42825	0.109000	0.17891	-0.343000	0.07986	GAA	.		0.458	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			T	106159171	A	T	106159171	3	4	42	1	0	0	0	0	1	0	0	0	2788	11	1	5	1774	5	CCDC147	10	106159171	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	10227938	106159171	29375576	125	9323											
TCF7L2	6934	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	114711350	114711350	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctccccaacggatcgctctCgcccaccgcccgaaccgtaa	7	21	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr10:114711350C>A	ENST00000355995.4	+	3	872	c.365C>A	c.(364-366)tCg>tAg	p.S122*	TCF7L2_ENST00000369395.1_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000355717.4_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000369397.4_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000538897.1_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000352065.5_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000545257.1_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000534894.1_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000349937.2_Nonsense_Mutation_p.S122*|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000536810.1_Nonsense_Mutation_p.S122*|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Nonsense_Mutation_p.S122*			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	122					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)		GGATCGCTCTCGCCCACCGCC	0.741			T	VTI1A	colorectal																																p.S122X		.		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	TCF7L2-586	0			c.C365A						.						23	22	22					10																	114711350		2200	4299	6499	SO:0001587	stop_gained	6934	exon3			CGCTCTCGCCCAC	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.365C>A	10.37:g.114711350C>A	ENSP00000348274:p.Ser122*	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	114	26	NM_001198526	0	0	0	0	0	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Nonsense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	38	7.090041	0.98055	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	.	.	.	2.6	2.6	0.31112	.	0.203527	0.31834	U	0.006993	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2016	13.7986	0.63186	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;122;122;122;122;122;122;122;122;122;69	.	ENSP00000345640:S69X	S	+	2	0	TCF7L2	114701340	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.246000	0.72405	1.242000	0.43836	0.000000	0.15137	TCG	.		0.741	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		A	114711350	C	A	114711350	4	1	42	1	0	0	0	0	0	1	0	0	15745	893	31	2	375	2	TCF7L2	10	114711350	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	8552179	114711350	20823397	126	9324											
MUC2	4583	broad.mit.edu	37	chr11	1093413	1093413	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcacacagaccccaaccacGacacccatcaccaccaccac	4	22	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:1093413G>T	ENST00000441003.2	+	30	5259	c.5232G>T	c.(5230-5232)acG>acT	p.T1744T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1711T|MUC2_ENST00000333592.6_Silent_p.T32T	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)	ccccaaccacgacacccatca	0.642																																					p.T1744T		.											.	MUC2-90	0			c.G5232T						.																																			SO:0001819	synonymous_variant	4583	exon30			AACCACGACACCC	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.5232G>T	11.37:g.1093413G>T		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	160	6	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093413	G	T	1093413	2	4	42	1	0	0	0	0	0	0	0	1	10013	1045	37	2		2	MUC2	11	1093413	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		1093413	133913103	127	9325											
MUC5B	727897	bcgsc.ca	37	chr11	1268449	1268449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacccacacacccccaGtgccgaacaccacggccacc	7	22	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:1268449G>A	ENST00000529681.1	+	31	10397	c.10339G>A	c.(10339-10341)Gtg>Atg	p.V3447M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V3450M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3447	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCCCAGTGCCGAACAC	0.692																																					p.V3447M		.											.	.	0			c.G10339A						.						52	83	72					11																	1268449		2107	4216	6323	SO:0001583	missense	727897	exon31			CCCCCAGTGCCGA	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.10339G>A	11.37:g.1268449G>A	ENSP00000436812:p.Val3447Met	Somatic	728	2		WXS	Illumina GAIIx	Phase_I	913	82	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054246	0.08291	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21734	1.99;2.17	2.65	-0.963	0.10330	.	.	.	.	.	T	0.29288	0.0729	L	0.46157	1.445	0.09310	N	1	D;P	0.57571	0.98;0.79	D;B	0.64237	0.923;0.276	T	0.15093	-1.0449	9	0.87932	D	0	.	3.59	0.07985	0.3616:0.0:0.4617:0.1767	.	3975;3450	A7Y9J9;E9PBJ0	.;.	M	3447;3450;3419;3352	ENSP00000436812:V3447M;ENSP00000415793:V3450M	ENSP00000343037:V3419M	V	+	1	0	MUC5B	1225025	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.552000	0.23376	0.038000	0.15604	0.305000	0.20034	GTG	.		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1268449	G	A	1268449	3	1	42	1	0	0	0	0	1	0	0	0	10017	1029	36	3	10470	3	MUC5B	11	1268449	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	175036	1268449	133738067	128	9326											
TH	7054	hgsc.bcm.edu;broad.mit.edu	37	chr11	2189798	2189798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggccaggtcccctcggCgcacctcgaggcgcacgaag	16	16	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:2189798C>T	ENST00000381178.1	-	4	521	c.503G>A	c.(502-504)cGc>cAc	p.R168H	TH_ENST00000381175.1_Missense_Mutation_p.R164H|TH_ENST00000352909.3_Missense_Mutation_p.R137H|TH_ENST00000333684.5_Missense_Mutation_p.R141H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	168					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCCCCTCGGCGCACCTCGAG	0.677																																					p.R168H		.											.	TH-90	0			c.G503A						.						13	16	15					11																	2189798		2189	4284	6473	SO:0001583	missense	7054	exon4			CCTCGGCGCACCT	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.503G>A	11.37:g.2189798C>T	ENSP00000370571:p.Arg168His	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	95	12	NM_199292	0	0	0	0	0	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	5.981	0.364877	0.11296	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	3.31	1.16	0.20824	.	0.112865	0.64402	U	0.000014	D	0.88789	0.6532	N	0.02225	-0.63	0.21473	N	0.999672	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.81486	-0.0911	10	0.19590	T	0.45	.	6.5202	0.22271	0.0:0.2732:0.4513:0.2755	.	141;141;137;137;168;164	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	168;164;137;141	ENSP00000370571:R168H;ENSP00000370567:R164H;ENSP00000325951:R137H;ENSP00000328814:R141H	ENSP00000328814:R141H	R	-	2	0	TH	2146374	1.000000	0.71417	0.852000	0.33557	0.010000	0.07245	1.953000	0.40352	0.502000	0.28037	-0.339000	0.08088	CGC	.		0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2189798	C	T	2189798	3	4	42	1	0	0	0	0	1	0	0	0	15885	768	27	1	1127	1	TH	11	2189798	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	921349	2189798	132816718	129	9327											
OR56A3	390083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5969056	5969056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagaaatgtgcttatgacTctgcccatccccatcctttc	5	15	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:5969056T>C	ENST00000329564.6	+	1	487	c.480T>C	c.(478-480)acT>acC	p.T160T	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTTATGACTCTGCCCATCC	0.448																																					p.T160T		.											.	OR56A3-68	1	Substitution - coding silent(1)	lung(1)	c.T480C						.						126	127	127					11																	5969056		2189	4295	6484	SO:0001819	synonymous_variant	390083	exon1			TATGACTCTGCCC		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.480T>C	11.37:g.5969056T>C		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	165	42	NM_001003443	0	0	0	0	0	A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																			.		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		C	5969056	T	C	5969056	2	2	42	1	0	0	0	0	0	0	0	1	11173	1538	54	4		4	OR56A3	11	5969056	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	3779258	5969056	129037460	130	9328											
CTR9	9646	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	10796822	10796822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaaccaaaaaaacgacGtccaccaaaagcagagaaga	6	13	0	2	rs372648972		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:10796822G>A	ENST00000361367.2	+	23	3380	c.2954G>A	c.(2953-2955)cGt>cAt	p.R985H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	985	Lys-rich.				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)		AAAAAACGACGTCCACCAAAA	0.388																																					p.R985H		.											.	CTR9-92	0			c.G2954A						.		HIS/ARG	0,4402		0,0,2201	112	105	107		2954	5.6	1	11		107	1,8587	1.2+/-3.3	0,1,4293	no	missense	CTR9	NM_014633.3	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	985/1174	10796822	1,12989	2201	4294	6495	SO:0001583	missense	9646	exon23			AACGACGTCCACC	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.2954G>A	11.37:g.10796822G>A	ENSP00000355013:p.Arg985His	Somatic	77	2		WXS	Illumina GAIIx	Phase_I	80	15	NM_014633	0	0	0	0	0	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974069	0.53720	0.0	1.16E-4	ENSG00000198730	ENST00000361367	T	0.51574	0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	N	0.14661	0.345	0.58432	D	0.999994	P	0.42337	0.776	B	0.28465	0.09	T	0.15694	-1.0428	10	0.51188	T	0.08	-12.2969	12.808	0.57624	0.0747:0.0:0.9253:0.0	.	985	Q6PD62	CTR9_HUMAN	H	985	ENSP00000355013:R985H	ENSP00000355013:R985H	R	+	2	0	CTR9	10753398	1.000000	0.71417	0.974000	0.42286	0.033000	0.12548	5.964000	0.70379	2.605000	0.88082	0.563000	0.77884	CGT	.		0.388	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		A	10796822	G	A	10796822	3	1	42	1	0	0	0	0	1	0	0	0	4033	1145	40	1	3044	1	CTR9	11	10796822	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	4827766	10796822	124209694	131	9329											
OR4C16	219428	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	55339779	55339779	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttaagaacccaatgttctTcttccttttctacttatcct	2	12	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:55339779T>A	ENST00000314634.3	+	1	176	c.176T>A	c.(175-177)tTc>tAc	p.F59Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCAATGTTCTTCTTCCTTTTC	0.388																																					p.F59Y		.											.	OR4C16-70	0			c.T176A						.						280	254	263					11																	55339779		2201	4296	6497	SO:0001583	missense	219428	exon1			TGTTCTTCTTCCT	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.176T>A	11.37:g.55339779T>A	ENSP00000324913:p.Phe59Tyr	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	217	12	NM_001004701	0	0	0	0	0	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.517091	0.27123	.	.	ENSG00000181935	ENST00000314634	T	0.01092	5.35	4.98	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.01800	0.0057	M	0.77103	2.36	0.23981	N	0.996274	B	0.20459	0.045	B	0.21151	0.033	T	0.39683	-0.9602	10	0.51188	T	0.08	.	3.9017	0.09164	0.3287:0.0892:0.0:0.5821	.	59	Q8NGL9	OR4CG_HUMAN	Y	59	ENSP00000324913:F59Y	ENSP00000324913:F59Y	F	+	2	0	OR4C16	55096355	0.238000	0.23825	0.998000	0.56505	0.339000	0.28857	2.294000	0.43567	0.903000	0.36546	0.448000	0.29417	TTC	.		0.388	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55339779	T	A	55339779	3	1	42	1	0	0	0	0	1	0	0	0	11088	1783	62	5	178	5	OR4C16	11	55339779	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	44542957	55339779	79666737	132	9330											
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55432669	55432669	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaacaatgtgactgaAttcattcttctgggtctcac	6	9	5	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:55432669A>C	ENST00000314259.3	+	1	56	c.27A>C	c.(25-27)gaA>gaC	p.E9D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGTGACTGAATTCATTCTTC	0.368																																					p.E9D		.											.	OR4C6-70	0			c.A27C						.						111	105	107					11																	55432669		2200	4296	6496	SO:0001583	missense	219432	exon1			GACTGAATTCATT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.27A>C	11.37:g.55432669A>C	ENSP00000324769:p.Glu9Asp	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	33	7	NM_001004704	0	0	0	0	0	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	8.253	0.809440	0.16537	.	.	ENSG00000181903	ENST00000314259	T	0.00566	6.55	3.83	-0.887	0.10587	.	0.589948	0.14075	N	0.343150	T	0.00637	0.0021	M	0.73319	2.225	0.22127	N	0.999347	B	0.20164	0.042	B	0.26614	0.071	T	0.44544	-0.9321	10	0.62326	D	0.03	.	2.9909	0.05982	0.5389:0.0:0.281:0.1802	.	9	Q8NH72	OR4C6_HUMAN	D	9	ENSP00000324769:E9D	ENSP00000324769:E9D	E	+	3	2	OR4C6	55189245	0.000000	0.05858	0.978000	0.43139	0.074000	0.17049	-2.016000	0.01446	-0.545000	0.06224	-0.565000	0.04167	GAA	.		0.368	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		C	55432669	A	C	55432669	3	2	42	1	0	0	0	0	1	0	0	0	11091	98	4	5	29	5	OR4C6	11	55432669	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	92890	55432669	79573847	133	9331											
OR5L2	26338	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55595126	55595126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagctgcgtgtggagctGacctcttgctgctacttctg	12	11	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:55595126G>A	ENST00000378397.1	+	1	432	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	144						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)				GTGTGGAGCTGACCTCTTGCT	0.507										HNSCC(27;0.073)																											p.L144L		.											.	OR5L2-69	0			c.G432A						.						217	185	196					11																	55595126		2200	4296	6496	SO:0001819	synonymous_variant	26338	exon1			GGAGCTGACCTCT	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.432G>A	11.37:g.55595126G>A		Somatic	226	1		WXS	Illumina GAIIx	Phase_I	238	51	NM_001004739	0	0	0	0	0	Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	CCDS31511.1																																																																																			.		0.507	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		A	55595126	G	A	55595126	2	1	42	1	0	0	0	0	0	0	0	1	11210	1277	45	3		3	OR5L2	11	55595126	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	162457	55595126	79411390	134	9332											
NRXN2	9379	hgsc.bcm.edu	37	chr11	64480641	64480641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaggttggccaagagGccgcggaagggcggctcgta	17	10	1	1	rs2518907	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:64480641G>A	ENST00000377551.1	-	1	742	c.531C>T	c.(529-531)ggC>ggT	p.G177G	NRXN2_ENST00000265459.6_Silent_p.G177G|NRXN2_ENST00000409571.1_Silent_p.G177G|NRXN2_ENST00000377559.3_Silent_p.G177G			Q9P2S2	NRX2A_HUMAN	neurexin 2	177	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGCCAAGAGGCCGCGGAAGG	0.756													G|||	2672	0.533546	0.2216	0.5403	5008	,	,		8112	0.5407		0.7604	False		,,,				2504	0.7096				p.G177G		.											.	NRXN2-232	0			c.C531T						.	G	,	1316,1684		331,654,515	2	2	2		531,531	1.3	1	11	dbSNP_100	2	4949,1205		2080,789,208	no	coding-synonymous,coding-synonymous	NRXN2	NM_015080.3,NM_138732.2	,	2411,1443,723	AA,AG,GG		19.5808,43.8667,31.56	,	177/1713,177/1643	64480641	6265,2889	1500	3077	4577	SO:0001819	synonymous_variant	9379	exon2			CAAGAGGCCGCGG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.531C>T	11.37:g.64480641G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_138732	0	0	0	0	0	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			G|0.449;A|0.551		0.756	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64480641	G	A	64480641	2	1	42	1	0	0	0	0	0	0	0	1	10705	1190	42	3		3	NRXN2	11	64480641	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	8885515	64480641	70525875	135	9333											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	42	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	399449	64880090	70126426	136	9334											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	15	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	42	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	930119	65810209	69196307	137	9335											
TMEM151A	256472	hgsc.bcm.edu	37	chr11	66062588	66062588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgggtcttctggctcGtgtcggcggccacgctgtcg	16	14	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:66062588G>A	ENST00000327259.4	+	2	1015	c.871G>A	c.(871-873)Gtg>Atg	p.V291M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	291						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CTTCTGGCTCGTGTCGGCGGC	0.697																																					p.V291M		.											.	TMEM151A-90	0			c.G871A						.						7	7	7					11																	66062588		2016	3973	5989	SO:0001583	missense	256472	exon2			TGGCTCGTGTCGG	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.871G>A	11.37:g.66062588G>A	ENSP00000326244:p.Val291Met	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	65	32	NM_153266	0	0	0	0	0	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764123	0.49574	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.23	3.31	0.37934	.	0.175744	0.37053	N	0.002277	T	0.30230	0.0758	N	0.08118	0	0.35601	D	0.807885	B	0.24675	0.109	B	0.14023	0.01	T	0.31138	-0.9954	9	0.46703	T	0.11	.	11.0799	0.48053	0.0937:0.0:0.9063:0.0	.	291	Q8N4L1	T151A_HUMAN	M	291	.	ENSP00000326244:V291M	V	+	1	0	TMEM151A	65819164	1.000000	0.71417	0.944000	0.38274	0.283000	0.27025	5.430000	0.66501	0.985000	0.38656	0.655000	0.94253	GTG	.		0.697	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		A	66062588	G	A	66062588	3	1	42	1	0	0	0	0	1	0	0	0	16117	1145	40	1	877	1	TMEM151A	11	66062588	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	252379	66062588	68943928	138	9336											
UNC93B1	81622	broad.mit.edu	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	10	15	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.		.											.	.	0			.						.						10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G		Somatic	74	1		WXS	Illumina GAIIx	Phase_I	216	4	.	0	0	0	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																				.		0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		G	67763107	A	G	67763107	2	3	42	1	0	0	0	0	0	0	0	1	17046	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	1700519	67763107	67243409	139	9337											
PPFIA1	8500	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	70228237	70228237	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggattctgctacagtcagGacttactcctgctaaagtct	8	10	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:70228237G>A	ENST00000253925.7	+	27	3809	c.3594G>A	c.(3592-3594)agG>agA	p.R1198R	AP000487.5_ENST00000524619.1_RNA|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1198					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTACAGTCAGGACTTACTCCT	0.517											OREG0021174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1198R		.											.	PPFIA1-228	0			c.G3594A						.						108	86	93					11																	70228237		2200	4294	6494	SO:0001819	synonymous_variant	8500	exon27			AGTCAGGACTTAC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3594G>A	11.37:g.70228237G>A		Somatic	76	0	1120	WXS	Illumina GAIIx	Phase_I	215	19	NM_003626	0	0	0	0	0	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1																																																																																			.		0.517	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		A	70228237	G	A	70228237	2	1	42	1	0	0	0	0	0	0	0	1	12348	1165	41	3		3	PPFIA1	11	70228237	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2465130	70228237	64778279	140	9338											
SHANK2	22941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	70333395	70333395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgggcttggcggggacGtagacggctttgctggcgat	19	9	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:70333395G>A	ENST00000423696.2	-	15	1902	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	SHANK2_ENST00000409161.1_Silent_p.Y405Y|SHANK2_ENST00000449833.2_Silent_p.Y406Y|SHANK2_ENST00000338508.4_Silent_p.Y1002Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	622					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)			TGGCGGGGACGTAGACGGCTT	0.617																																					p.Y413Y		.											.	SHANK2-94	0			c.C1239T						.						114	121	118					11																	70333395		2200	4294	6494	SO:0001819	synonymous_variant	22941	exon10			GGGGACGTAGACG	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.1866C>T	11.37:g.70333395G>A		Somatic	167	0		WXS	Illumina GAIIx	Phase_I	335	82	NM_133266	0	0	0	0	0	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																				.		0.617	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70333395	G	A	70333395	2	1	42	1	0	0	0	0	0	0	0	1	14310	1140	40	1		1	SHANK2	11	70333395	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	105158	70333395	64673121	141	9339											
WNT11	7481	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	75898196	75898196	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttacagtggcaccgctcGaccacgcggtctgtgtaggg	13	12	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:75898196G>A	ENST00000322563.3	-	5	1102	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	326					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGCACCGCTCGACCACGCGGT	0.617																																					p.V326V		.											.	WNT11-562	0			c.C978T						.						174	127	143					11																	75898196		2200	4292	6492	SO:0001819	synonymous_variant	7481	exon5			CCGCTCGACCACG	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.978C>T	11.37:g.75898196G>A		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	163	14	NM_004626	0	0	0	0	0	B2R8Z6|Q14DE8|Q8WZ98	Silent	SNP	ENST00000322563.3	37	CCDS8242.1																																																																																			.		0.617	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		A	75898196	G	A	75898196	2	1	42	1	0	0	0	0	0	0	0	1	17433	1045	37	1		1	WNT11	11	75898196	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	5564801	75898196	59108320	142	9340											
B3GNT6	192134	hgsc.bcm.edu	37	chr11	76751543	76751604	+	Frame_Shift_Del	DEL	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-													gcctacatgggcatgtgtctTggagcgcgccggcctggcgc					rs544232471|rs34153015|rs182310862|rs11292200|rs77209527|rs539994853|rs201940118|rs11292199|rs200788398	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENST00000533140.1	+	2	1086_1147	c.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	c.(946-1011)cttggagcgcgccggcctggcgcccagcggccacgagggcatcctggcccttcggcgtgcagcttgfs	p.LGARRPGAQRPRGHPGPSACSL316fs	B3GNT6_ENST00000354301.5_Splice_Site_p.LERAGLAPSGHEGILALRRAA316fs|B3GNT6_ENST00000421061.1_Splice_Site_p.GARRPGAQRPRGHPGP200fs			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						GCATGTGTCTTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCTTGCCTGGCGC	0.71																																					p.316_336del		.											.	.	0			c.947_1006del						.																																			SO:0001589	frameshift_variant	192134	exon3			GTGTCTTGGAGCG	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.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	11.37:g.76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENSP00000435352:p.Leu316fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	0	NM_138706	0	0	0	0	0	Q4TTN0	In_Frame_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.71	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		-	76751604	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	76751543	7	5	42	1	0	1	0	1	0	0	0	0	1262	1799	63	0	950	0	B3GNT6	11	76751543	Frame_Shift_Del	DEL	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TCGA-OR-A5L2-01A-11D-A30A-10	853347	76751543	58254973	143	9341											
SIK2	23235	broad.mit.edu	37	chr11	111591721	111591721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtatgaacaaataggaccgGaggcagaccctaacctggcg	12	10	0	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:111591721G>C	ENST00000304987.3	+	12	2052	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	627					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)	p.E627K(1)		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						AATAGGACCGGAGGCAGACCC	0.517																																					p.E627Q		.											.	SIK2-783	1	Substitution - Missense(1)	cervix(1)	c.G1879C						.						81	86	84					11																	111591721		2201	4297	6498	SO:0001583	missense	23235	exon12			GGACCGGAGGCAG	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.1879G>C	11.37:g.111591721G>C	ENSP00000305976:p.Glu627Gln	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	85	4	NM_015191	0	0	0	0	0	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483654	0.63962	.	.	ENSG00000170145	ENST00000304987	T	0.73152	-0.72	6.17	5.25	0.73442	.	0.317810	0.37761	N	0.001947	T	0.63283	0.2498	L	0.50333	1.59	0.31314	N	0.686771	B	0.23735	0.09	B	0.22880	0.042	T	0.59847	-0.7377	10	0.08837	T	0.75	.	15.7024	0.77552	0.0666:0.0:0.9334:0.0	.	627	Q9H0K1	SIK2_HUMAN	Q	627	ENSP00000305976:E627Q	ENSP00000305976:E627Q	E	+	1	0	SIK2	111096931	1.000000	0.71417	0.446000	0.26920	0.391000	0.30476	3.732000	0.55021	1.596000	0.50062	0.655000	0.94253	GAG	.		0.517	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		C	111591721	G	C	111591721	3	2	42	1	0	0	0	0	1	0	0	0	14363	1175	41	3	1925	3	SIK2	11	111591721	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	34840178	111591721	23414795	144	9342											
USP28	57646	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	113679796	113679796	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcagataccttgtgatgtaGagtagtcctgtgatgaggag	13	6	1	5			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:113679796G>C	ENST00000003302.4	-	17	2221	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	USP28_ENST00000545540.1_Missense_Mutation_p.S593C|USP28_ENST00000260188.5_Missense_Mutation_p.S718C|USP28_ENST00000544967.1_Missense_Mutation_p.S426C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	718					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)		TTGTGATGTAGAGTAGTCCTG	0.498																																					p.S718C	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	.											.	USP28-706	0			c.C2153G						.						222	209	213					11																	113679796		2201	4296	6497	SO:0001583	missense	57646	exon17			GATGTAGAGTAGT	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.2153C>G	11.37:g.113679796G>C	ENSP00000003302:p.Ser718Cys	Somatic	283	2		WXS	Illumina GAIIx	Phase_I	250	61	NM_020886	0	0	0	0	0	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431441	0.43122	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.46451	1.4;1.46;0.87;1.47	4.9	4.9	0.64082	.	0.630500	0.16625	N	0.206332	T	0.40670	0.1126	L	0.38175	1.15	0.28214	N	0.92681	D;D;D	0.57257	0.979;0.966;0.973	P;P;P	0.50192	0.594;0.571;0.634	T	0.33059	-0.9883	10	0.59425	D	0.04	-16.9757	9.066	0.36465	0.0975:0.0:0.9025:0.0	.	593;718;426	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	C	718;718;426;593	ENSP00000003302:S718C;ENSP00000260188:S718C;ENSP00000442431:S426C;ENSP00000444991:S593C	ENSP00000003302:S718C	S	-	2	0	USP28	113185006	0.999000	0.42202	0.978000	0.43139	0.693000	0.40251	3.123000	0.50453	2.540000	0.85666	0.462000	0.41574	TCT	.		0.498	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			C	113679796	G	C	113679796	3	2	42	1	0	0	0	0	1	0	0	0	17107	942	33	3	1116	3	USP28	11	113679796	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2088075	113679796	21326720	145	9343											
VSIG2	23584	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	124618582	124618582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggatgcactgcccatctGgttggtggccacacagcggt	13	12	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr11:124618582G>A	ENST00000326621.5	-	5	764	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	VSIG2_ENST00000403470.1_Nonsense_Mutation_p.Q222*|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	222	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CTGCCCATCTGGTTGGTGGCC	0.602																																					p.Q222X		.											.	VSIG2-93	0			c.C664T						.						133	108	117					11																	124618582		2201	4299	6500	SO:0001587	stop_gained	23584	exon5			CCATCTGGTTGGT	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.664C>T	11.37:g.124618582G>A	ENSP00000318684:p.Gln222*	Somatic	158	1		WXS	Illumina GAIIx	Phase_I	149	45	NM_014312	0	0	0	0	0	O95791|Q9NX42	Nonsense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107218	0.94292	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	.	.	.	5.44	5.44	0.79542	.	0.184647	0.38381	N	0.001712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	14.6271	0.68629	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000318684:Q222X	Q	-	1	0	VSIG2	124123792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.008000	0.49544	2.835000	0.97688	0.591000	0.81541	CAG	.		0.602	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		A	124618582	G	A	124618582	4	1	42	1	0	0	0	0	0	1	0	0	17273	1357	47	3	331	3	VSIG2	11	124618582	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	10938786	124618582	10387934	146	9344											
FGF23	8074	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	4488634	4488634	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtacaggtggatcaGgccaccccagctggagccga	15	12	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:4488634G>C	ENST00000237837.1	-	1	260	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	39					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGGTGGATCAGGCCACCCCAG	0.602																																					p.L39V		.											.	FGF23-660	0			c.C115G						.						127	98	108					12																	4488634		2203	4300	6503	SO:0001583	missense	8074	exon1			GGATCAGGCCACC	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.115C>G	12.37:g.4488634G>C	ENSP00000237837:p.Leu39Val	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	107	9	NM_020638	0	0	0	0	0	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254817	0.59212	.	.	ENSG00000118972	ENST00000237837	T	0.81330	-1.48	3.96	3.96	0.45880	.	0.235397	0.36854	N	0.002364	D	0.88012	0.6323	M	0.74881	2.28	0.40871	D	0.983915	D	0.76494	0.999	D	0.70716	0.97	D	0.85970	0.1476	10	0.22109	T	0.4	-15.0123	17.3281	0.87255	0.0:0.0:1.0:0.0	.	39	Q9GZV9	FGF23_HUMAN	V	39	ENSP00000237837:L39V	ENSP00000237837:L39V	L	-	1	2	FGF23	4358895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.735000	0.55044	2.496000	0.84212	0.655000	0.94253	CTG	.		0.602	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			C	4488634	G	C	4488634	3	2	42	1	0	0	0	0	1	0	0	0	5874	991	35	3	652	3	FGF23	12	4488634	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		4488634	129363261	147	9345											
SCNN1A	6337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6457898	6457898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcacgacctaccgtgaCagagggagactcagaattgg	13	11	1	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:6457898C>T	ENST00000228916.2	-	12	1722	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	SCNN1A_ENST00000540037.1_Missense_Mutation_p.V242I|SCNN1A_ENST00000358945.3_Missense_Mutation_p.V564I|SCNN1A_ENST00000360168.3_Missense_Mutation_p.V601I|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.V565I	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	542					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)	CCTACCGTGACAGAGGGAGAC	0.532																																					p.V601I		.											.	SCNN1A-90	0			c.G1801A						.						135	121	126					12																	6457898		2203	4300	6503	SO:0001583	missense	6337	exon11			CCGTGACAGAGGG	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.1624G>A	12.37:g.6457898C>T	ENSP00000228916:p.Val542Ile	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	175	24	NM_001159576	0	0	0	0	0	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345864	0.41599	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.0	5.0	0.66597	.	0.201781	0.33457	N	0.004884	T	0.52917	0.1764	L	0.45470	1.425	0.29709	N	0.839533	P;B;P	0.38827	0.649;0.267;0.537	B;B;B	0.42462	0.388;0.336;0.155	T	0.49418	-0.8942	10	0.07813	T	0.8	-39.9318	9.4189	0.38539	0.0:0.9029:0.0:0.0971	.	565;542;601	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	I	601;564;242;542;565	ENSP00000353292:V601I;ENSP00000351825:V564I;ENSP00000440876:V242I;ENSP00000228916:V542I;ENSP00000438739:V565I	ENSP00000228916:V542I	V	-	1	0	SCNN1A	6328159	0.987000	0.35691	0.990000	0.47175	0.881000	0.50899	2.715000	0.47210	2.331000	0.79229	0.591000	0.81541	GTC	.		0.532	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6457898	C	T	6457898	3	4	42	1	0	0	0	0	1	0	0	0	13972	478	17	3	393	3	SCNN1A	12	6457898	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1969264	6457898	127393997	148	9346											
PTPN6	5777	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	7060782	7060782	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcccaggtggtttcacCgagacctcagtgggctggat	15	12	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:7060782C>T	ENST00000318974.9	+	2	263	c.19C>T	c.(19-21)Cga>Tga	p.R7*	PTPN6_ENST00000456013.1_Nonsense_Mutation_p.R7*|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000399448.1_Nonsense_Mutation_p.R9*	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	7	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTGGTTTCACCGAGACCTCAG	0.662																																					p.R9X		.											.	PTPN6-703	0			c.C25T						.						51	57	55					12																	7060782		1969	4166	6135	SO:0001587	stop_gained	5777	exon2			TTTCACCGAGACC		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.19C>T	12.37:g.7060782C>T	ENSP00000326010:p.Arg7*	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	115	9	NM_080548	0	0	0	0	0	A8K306|G3V0F8|Q969V8|Q9UK67	Nonsense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	37	6.322460	0.97471	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698	.	.	.	4.72	3.76	0.43208	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.26	0.66078	0.0:0.8502:0.1498:0.0	.	.	.	.	X	28;9;7;7;7;7;7	.	ENSP00000326010:R7X	R	+	1	2	PTPN6	6931043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.616000	0.46376	2.168000	0.68352	0.491000	0.48974	CGA	.		0.662	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		T	7060782	C	T	7060782	4	4	42	1	0	0	0	0	0	1	0	0	12837	644	23	1	43	1	PTPN6	12	7060782	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	602884	7060782	126791113	149	9347											
CD163L1	283316	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	7522051	7522051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactcatttcctttgcacCgcatgtcatccaaccagatg	6	13	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:7522051C>T	ENST00000313599.3	-	15	3998	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314Q|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCTTTGCACCGCATGTCATC	0.567																																					p.R1314Q		.											.	CD163L1-100	0			c.G3941A						.						146	132	137					12																	7522051		2203	4300	6503	SO:0001583	missense	283316	exon15			TTGCACCGCATGT	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.3941G>A	12.37:g.7522051C>T	ENSP00000315945:p.Arg1314Gln	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	88	28	NM_174941	0	0	0	0	0	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	1.694	-0.503193	0.04261	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35236	1.32;1.32;1.32	2.67	-3.33	0.04958	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.561810	0.04732	N	0.421283	T	0.14013	0.0339	N	0.05031	-0.125	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.15983	-1.0418	10	0.09590	T	0.72	.	3.7428	0.08537	0.1667:0.344:0.0:0.4892	.	1324;1314	E7EVK4;Q9NR16	.;C163B_HUMAN	Q	1314;1324;1314	ENSP00000315945:R1314Q;ENSP00000393474:R1324Q;ENSP00000379871:R1314Q	ENSP00000315945:R1314Q	R	-	2	0	CD163L1	7413318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.225000	0.09151	-0.772000	0.04602	-1.307000	0.01316	CGG	.		0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7522051	C	T	7522051	3	4	42	1	0	0	0	0	1	0	0	0	2975	652	23	1	440	1	CD163L1	12	7522051	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	461269	7522051	126329844	150	9348											
ARID2	196528	broad.mit.edu	37	chr12	46211485	46211485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagttatgggctgtccatgGactttaattcgccaaatgat	9	7	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:46211485G>T	ENST00000334344.6	+	5	623	c.451G>T	c.(451-453)Gac>Tac	p.D151Y	ARID2_ENST00000422737.1_Missense_Mutation_p.D2Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	151					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTGTCCATGGACTTTAATTC	0.348			"N, S, F"		hepatocellular carcinoma																																p.D151Y		.		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	ARID2-100	0			c.G451T						.						76	74	75					12																	46211485		2203	4300	6503	SO:0001583	missense	196528	exon5			TCCATGGACTTTA		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.451G>T	12.37:g.46211485G>T	ENSP00000335044:p.Asp151Tyr	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	33	4	NM_152641	0	0	0	0	0	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.819241|4.819241	0.90873|0.90873	.|.	.|.	ENSG00000189079|ENSG00000189079	ENST00000334344;ENST00000422737|ENST00000549153;ENST00000338636	T|.	0.34859|.	1.34|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75744|0.75744	0.3891|0.3891	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.77225|0.77225	-0.2666|-0.2666	10|6	0.62326|0.87932	D|D	0.03|0	-7.5109|-7.5109	19.6643|19.6643	0.95887|0.95887	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151|.	Q68CP9|.	ARID2_HUMAN|.	Y|C	151;2|42	ENSP00000335044:D151Y|.	ENSP00000335044:D151Y|ENSP00000339739:W42C	D|W	+|+	1|3	0|0	ARID2|ARID2	44497752|44497752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.854000|9.854000	0.99522|0.99522	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GAC|TGG	.		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46211485	G	T	46211485	3	4	42	1	0	0	0	0	1	0	0	0	915	1174	41	3	469	3	ARID2	12	46211485	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	38689434	46211485	87640410	151	9349											
HDAC7	51564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	48189737	48189737	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcgggcagcaaggacacTgtcggcaaggcgaacggggc	17	10	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:48189737T>G	ENST00000427332.2	-	9	897	c.741A>C	c.(739-741)acA>acC	p.T247T	HDAC7_ENST00000080059.7_Silent_p.T286T|HDAC7_ENST00000552960.1_Silent_p.T269T|HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000380610.4_Silent_p.T303T			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	247	Transcription repression 1. {ECO:0000250}.|Transcription repression 2. {ECO:0000250}.			Missing (in Ref. 1; AAF63491). {ECO:0000305}.	cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCAAGGACACTGTCGGCAAGG	0.692																																					p.T286T		.											.	HDAC7-289	0			c.A858C						.						7	7	7					12																	48189737		2109	4074	6183	SO:0001819	synonymous_variant	51564	exon9			GGACACTGTCGGC	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.741A>C	12.37:g.48189737T>G		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	122	20	NM_015401	0	0	0	0	0	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37																																																																																				.		0.692	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			G	48189737	T	G	48189737	2	3	42	1	0	0	0	0	0	0	0	1	7039	1567	55	5		5	HDAC7	12	48189737	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1978252	48189737	85662158	152	9350											
TMBIM6	7009	broad.mit.edu;bcgsc.ca	37	chr12	50136045	50136045	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccccgctcttttcggAttggttacctttgggcaggt	14	11	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:50136045A>G	ENST00000267115.5	+	1	55				TMBIM6_ENST00000552699.1_Silent_p.G42G|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000423828.1_Silent_p.G42G	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTTTTCGGATTGGTTACCT	0.597																																					p.G42G		.											.	TMBIM6-90	0			c.A126G						.						29	33	32					12																	50136045		1902	4100	6002	SO:0001627	intron_variant	7009	exon1			TTTCGGATTGGTT	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.-31+651A>G	12.37:g.50136045A>G		Somatic	56	1		WXS	Illumina GAIIx	Phase_I	81	10	NM_001098576	0	0	0	0	0	B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP	ENST00000267115.5	37	CCDS31797.1																																																																																			.		0.597	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		G	50136045	A	G	50136045	1	3	42	0	1	0	0	0	0	0	0	0	16030	320	12	4		4	TMBIM6	12	50136045	Intron	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	1946308	50136045	83715850	153	9351											
KIF5A	3798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57976934	57976934	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggccaagcttttccCtctccaccaagagacagcag	9	15	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:57976934C>G	ENST00000455537.2	+	28	3345	c.3071C>G	c.(3070-3072)cCt>cGt	p.P1024R	KIF5A_ENST00000286452.5_Missense_Mutation_p.P935R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1024	Globular.				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						AAGCTTTTCCCTCTCCACCAA	0.557											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1024R		.											.	KIF5A-517	0			c.C3071G						.						89	65	73					12																	57976934		2203	4300	6503	SO:0001583	missense	3798	exon28			TTTTCCCTCTCCA	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.3071C>G	12.37:g.57976934C>G	ENSP00000408979:p.Pro1024Arg	Somatic	90	0	1027	WXS	Illumina GAIIx	Phase_I	130	31	NM_004984	0	0	0	0	0	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440911	0.43326	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.73258	-0.73;-0.72	4.79	4.79	0.61399	.	0.132628	0.51477	D	0.000090	T	0.56426	0.1984	N	0.22421	0.69	0.40458	D	0.980214	B;P	0.40476	0.396;0.718	B;B	0.32864	0.064;0.154	T	0.66069	-0.6015	10	0.66056	D	0.02	.	17.8124	0.88620	0.0:1.0:0.0:0.0	.	935;1024	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	1024;935;118	ENSP00000408979:P1024R;ENSP00000286452:P935R	ENSP00000286452:P935R	P	+	2	0	KIF5A	56263201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.766000	0.38491	2.941000	0.99782	0.655000	0.94253	CCT	.		0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		G	57976934	C	G	57976934	3	3	42	1	0	0	0	0	1	0	0	0	8332	681	24	3	3181	3	KIF5A	12	57976934	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	7840889	57976934	75874961	154	9352											
SYCP3	50511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	102122734	102122734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggattgaagagacttccGaacacttgctatctcttgct	8	10	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:102122734G>A	ENST00000392927.3	-	9	813	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	SYCP3_ENST00000392924.1_Missense_Mutation_p.R228W|CHPT1_ENST00000229266.3_3'UTR|SYCP3_ENST00000266743.2_Missense_Mutation_p.R228W	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	228	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGAGACTTCCGAACACTTGCT	0.303																																					p.R228W		.											.	SYCP3-90	0			c.C682T						.						114	111	112					12																	102122734		2203	4297	6500	SO:0001583	missense	50511	exon9			ACTTCCGAACACT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.682C>T	12.37:g.102122734G>A	ENSP00000376658:p.Arg228Trp	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	90	20	NM_001177949	0	0	0	0	0		Missense_Mutation	SNP	ENST00000392927.3	37	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782839	0.70222	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.59032	0.2164	M	0.79805	2.47	0.80722	D	1	P	0.42757	0.789	B	0.31101	0.124	T	0.70375	-0.4889	9	0.87932	D	0	-2.195	19.2917	0.94102	0.0:0.0:1.0:0.0	.	228	Q8IZU3	SYCP3_HUMAN	W	228	.	ENSP00000266743:R228W	R	-	1	2	SYCP3	100646865	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.581000	0.90788	2.557000	0.86248	0.455000	0.32223	CGG	.		0.303	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		A	102122734	G	A	102122734	3	1	42	1	0	0	0	0	1	0	0	0	15481	1057	37	1	32	1	SYCP3	12	102122734	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	44145800	102122734	31729161	155	9353											
MMAB	326625	broad.mit.edu	37	chr12	110011235	110011235	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgaagcacccgcgcagGccaagacggctccccaggcc	13	19	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:110011235G>T	ENST00000545712.2	-	1	444	c.51C>A	c.(49-51)ggC>ggA	p.G17G	MVK_ENST00000539575.1_5'Flank|MVK_ENST00000541384.1_5'Flank|MVK_ENST00000228510.3_5'Flank|MMAB_ENST00000540016.1_Silent_p.G17G|MVK_ENST00000392727.3_5'Flank|MVK_ENST00000535044.1_3'UTR|MMAB_ENST00000266839.5_5'UTR|MVK_ENST00000539696.1_5'Flank	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	17					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCGCGCAGGCCAAGACGGC	0.711																																					p.G17G		.											.	MMAB-90	0			c.C51A						.						15	17	16					12																	110011235		2193	4293	6486	SO:0001819	synonymous_variant	326625	exon1			GCGCAGGCCAAGA	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.51C>A	12.37:g.110011235G>T		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	94	12	NM_052845	0	0	0	0	0	C5HU05|Q9BSH0	Silent	SNP	ENST00000545712.2	37	CCDS9131.1																																																																																			.		0.711	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110011235	G	T	110011235	2	4	42	1	0	0	0	0	0	0	0	1	9678	1190	42	3		3	MMAB	12	110011235	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	7888501	110011235	23840660	156	9354											
LHX5	64211	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	113906071	113906071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgggggccgcgccgcTtggtgcccgagttctgctcc	17	14	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:113906071T>C	ENST00000261731.3	-	3	1109	c.536A>G	c.(535-537)aAg>aGg	p.K179R		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	179					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCCGCGCCGCTTGGTGCCCGA	0.667																																					p.K179R		.											.	LHX5-90	0			c.A536G						.						118	101	107					12																	113906071		2203	4300	6503	SO:0001583	missense	64211	exon3			CGCCGCTTGGTGC	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.536A>G	12.37:g.113906071T>C	ENSP00000261731:p.Lys179Arg	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	268	14	NM_022363	0	0	0	0	0	Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105690	0.94292	.	.	ENSG00000089116	ENST00000261731	D	0.95821	-3.82	4.7	4.7	0.59300	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.56097	D	0.000037	D	0.96827	0.8964	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96558	0.9413	10	0.44086	T	0.13	.	14.175	0.65534	0.0:0.0:0.0:1.0	.	179	Q9H2C1	LHX5_HUMAN	R	179	ENSP00000261731:K179R	ENSP00000261731:K179R	K	-	2	0	LHX5	112390454	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.999000	0.88496	1.731000	0.51592	0.402000	0.26972	AAG	.		0.667	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		C	113906071	T	C	113906071	3	2	42	1	0	0	0	0	1	0	0	0	8803	1609	56	4	684	4	LHX5	12	113906071	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	3894836	113906071	19945824	157	9355											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	25	14	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	42	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	3281836	117187907	16663988	158	9356											
NOS1	4842	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	117725978	117725978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccttgcatgctgagaaGgatgcatgatggagcccatg	13	10	0	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:117725978G>A	ENST00000338101.4	-	4	1032	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	NOS1_ENST00000317775.6_Missense_Mutation_p.P343L|NOS1_ENST00000344089.3_Missense_Mutation_p.L362F			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)		ATGCTGAGAAGGATGCATGAT	0.468																																					p.P343L	Esophageal Squamous(162;1748 2599 51982 52956)	.											.	NOS1-154	0			c.C1028T						.						113	110	111					12																	117725978		1947	4155	6102	SO:0001583	missense	4842	exon5			TGAGAAGGATGCA		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.1028C>T	12.37:g.117725978G>A	ENSP00000337459:p.Pro343Leu	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	130	61	NM_000620	0	0	0	0	0		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.266753|2.266753	0.40095|0.40095	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.09163|0.40476	3.01|1.03;1.03	5.93|5.93	5.04|5.04	0.67666|0.67666	.|Nitric oxide synthase, oxygenase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69557|0.69557	0.3124|0.3124	M|M	0.89287|0.89287	3.02|3.02	0.31155|0.31155	N|N	0.704984|0.704984	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.76881|0.76881	-0.2795|-0.2795	7|10	0.87932|0.49607	D|T	0|0.09	-9.0806|-9.0806	15.2208|15.2208	0.73310|0.73310	0.0674:0.0:0.9326:0.0|0.0674:0.0:0.9326:0.0	.|.	.|343	.|P29475	.|NOS1_HUMAN	F|L	362|343	ENSP00000339862:L362F|ENSP00000320758:P343L;ENSP00000337459:P343L	ENSP00000339862:L362F|ENSP00000320758:P343L	L|P	-|-	1|2	0|0	NOS1|NOS1	116210361|116210361	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.121000|0.121000	0.20230|0.20230	7.190000|7.190000	0.77755|0.77755	1.515000|1.515000	0.48885|0.48885	0.563000|0.563000	0.77884|0.77884	CTT|CCT	.		0.468	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117725978	G	A	117725978	3	1	42	1	0	0	0	0	1	0	0	0	10580	1000	35	3	3376	3	NOS1	12	117725978	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	538071	117725978	16125917	159	9357											
SRRM4	84530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	119583269	119583269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacgttcccaggagtaCgactcaggaaatgacacgtc	12	11	1	1	rs201517536		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:119583269C>T	ENST00000267260.4	+	9	1243	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	285	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGAGTACGACTCAGGAA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		14485	0		0	False		,,,				2504	0				p.Y285Y		.											.	SRRM4-2	0			c.C855T						.						32	36	35					12																	119583269		2004	4161	6165	SO:0001819	synonymous_variant	84530	exon9			GGAGTACGACTCA	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.855C>T	12.37:g.119583269C>T		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	103	40	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	CCDS44994.1																																																																																			C|1.000;T|0.000		0.607	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		T	119583269	C	T	119583269	2	4	42	1	0	0	0	0	0	0	0	1	15218	547	19	1		1	SRRM4	12	119583269	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1857291	119583269	14268626	160	9358											
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	120589045	120589045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcccaggcccttcaCcaggcccgccaggccatagg	13	16	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:120589045C>T	ENST00000300648.6	-	34	4225	c.4213G>A	c.(4213-4215)Gtg>Atg	p.V1405M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1405					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)					AGGCCCTTCACCAGGCCCGCC	0.602																																					p.V1405M		.											.	GCN1L1-94	0			c.G4213A						.						50	56	54					12																	120589045		2146	4249	6395	SO:0001583	missense	10985	exon34			CCTTCACCAGGCC	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.4213G>A	12.37:g.120589045C>T	ENSP00000300648:p.Val1405Met	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	101	15	NM_006836	0	0	0	0	0	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144788	0.77888	.	.	ENSG00000089154	ENST00000300648	T	0.66638	-0.22	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.91972	3.26	0.80722	D	1	D	0.64830	0.994	P	0.61328	0.887	D	0.88388	0.3006	10	0.87932	D	0	-21.2775	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1405	Q92616	GCN1L_HUMAN	M	1405	ENSP00000300648:V1405M	ENSP00000300648:V1405M	V	-	1	0	GCN1L1	119073428	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GTG	.		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120589045	C	T	120589045	3	4	42	1	0	0	0	0	1	0	0	0	6324	507	18	3	3902	3	GCN1L1	12	120589045	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1005776	120589045	13262850	161	9359											
CLIP1	6249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	122812908	122812908	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtcatgtcctcaataCttttttgcagaaaacttgca	6	9	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:122812908C>G	ENST00000540338.1	-	15	2974	c.2933G>C	c.(2932-2934)aGt>aCt	p.S978T	CLIP1_ENST00000537178.1_Missense_Mutation_p.S932T|CLIP1_ENST00000302528.7_Missense_Mutation_p.S967T|CLIP1_ENST00000358808.2_Missense_Mutation_p.S967T|CLIP1_ENST00000361654.4_Missense_Mutation_p.S856T|CLIP1_ENST00000545889.1_Missense_Mutation_p.S553T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	978					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCCTCAATACTTTTTTGCAG	0.358																																					p.S978T		.											.	CLIP1-155	0			c.G2933C						.						133	132	132					12																	122812908		2203	4300	6503	SO:0001583	missense	6249	exon16			TCAATACTTTTTT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2933G>C	12.37:g.122812908C>G	ENSP00000439093:p.Ser978Thr	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	71	14	NM_001247997	0	0	0	0	0	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349491	0.24426	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.78481	2.71;-1.18;-1.18;0.7;0.71	5.32	2.31	0.28768	.	0.440622	0.27072	N	0.021063	T	0.60779	0.2295	L	0.31294	0.92	0.25087	N	0.990884	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.48175	-0.9058	10	0.38643	T	0.18	-3.9354	4.075	0.09899	0.0:0.4854:0.1685:0.3461	.	932;967;978	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	T	553;967;967;697;9;932;978	ENSP00000438743:S553T;ENSP00000303585:S967T;ENSP00000351665:S967T;ENSP00000445531:S932T;ENSP00000439093:S978T	ENSP00000303585:S967T	S	-	2	0	CLIP1	121378861	0.141000	0.22595	0.994000	0.49952	0.823000	0.46562	0.016000	0.13377	0.737000	0.32582	0.561000	0.74099	AGT	.		0.358	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122812908	C	G	122812908	3	3	42	1	0	0	0	0	1	0	0	0	3539	565	20	3	1427	3	CLIP1	12	122812908	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2223863	122812908	11038987	162	9360											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000535703.1_Silent_p.P565P|RIMBP2_ENST00000536002.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	86	49	NM_015347	0	0	0	0	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	42	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	8108563	130921471	2930424	163	9361											
GSX1	219409	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	28367932	28367932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaaccatcgtggcggCggcggcgggggtgccggtgg	22	11	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr13:28367932C>T	ENST00000302945.2	+	2	690	c.642C>T	c.(640-642)ggC>ggT	p.G214G		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	214	Poly-Gly.				adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ATCgtggcggcggcggcgggg	0.632																																					p.G214G		.											.	GSX1-69	0			c.C642T						.						36	37	36					13																	28367932		2203	4300	6503	SO:0001819	synonymous_variant	219409	exon2			TGGCGGCGGCGGC	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.642C>T	13.37:g.28367932C>T		Somatic	98	1		WXS	Illumina GAIIx	Phase_I	180	80	NM_145657	0	0	0	0	0	Q9UD62	Silent	SNP	ENST00000302945.2	37	CCDS9326.1																																																																																			.		0.632	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		T	28367932	C	T	28367932	2	4	42	1	0	0	0	0	0	0	0	1	6876	755	27	1		1	GSX1	13	28367932	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		28367932	86801946	164	9362											
TEP1	7011	hgsc.bcm.edu;broad.mit.edu	37	chr14	20869174	20869174	+	Frame_Shift_Del	DEL	C	C	-													tcccagaccgacgctttgttCccccgtaggctcagctcccg							TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:20869174delC	ENST00000262715.5	-	9	1558	c.1518delG	c.(1516-1518)gggfs	p.G506fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G398fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	506	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCTTTGTTCCCCCGTAGGC	0.552																																					p.G506fs		.											.	TEP1-95	0			c.1518delG						.						144	117	126					14																	20869174		2203	4300	6503	SO:0001589	frameshift_variant	7011	exon9			TTTGTTCCCCCGT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1518delG	14.37:g.20869174delC	ENSP00000262715:p.Gly506fs	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	221	13	NM_007110	0	0	0	0	0	A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	CCDS9548.1																																																																																			.		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		-	20869174	C	-	20869174	7	5	42	1	0	1	0	1	0	0	0	0	15806	842	30	0	6553	0	TEP1	14	20869174	Frame_Shift_Del	DEL	C	TCGA-OR-A5L2-01A-11D-A30A-10		20869174	86480366	165	9363											
CEBPE	1053	broad.mit.edu	37	chr14	23588089	23588089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcaggggttccggggCccttgaggcctctggcctca	17	12	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:23588089C>A	ENST00000206513.5	-	1	736	c.212G>T	c.(211-213)gGc>gTc	p.G71V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	71					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GGTTCCGGGGCCCTTGAGGCC	0.647																																					p.G71V	NSCLC(63;1230 1818 14565 22565)	.											.	CEBPE-92	0			c.G212T						.						36	40	38					14																	23588089		2203	4300	6503	SO:0001583	missense	1053	exon1			CCGGGGCCCTTGA		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.212G>T	14.37:g.23588089C>A	ENSP00000206513:p.Gly71Val	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	90	9	NM_001805	0	0	0	0	0	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576903	0.45902	.	.	ENSG00000092067	ENST00000206513	T	0.33216	1.42	4.36	2.43	0.29744	.	0.279884	0.25619	N	0.029421	T	0.44767	0.1309	L	0.58810	1.83	0.58432	D	0.999996	D	0.69078	0.997	D	0.68765	0.96	T	0.15954	-1.0419	10	0.30078	T	0.28	-11.4505	9.6677	0.39994	0.159:0.6875:0.1535:0.0	.	71	Q15744	CEBPE_HUMAN	V	71	ENSP00000206513:G71V	ENSP00000206513:G71V	G	-	2	0	CEBPE	22657929	0.978000	0.34361	0.546000	0.28166	0.803000	0.45373	1.387000	0.34430	0.406000	0.25560	0.561000	0.74099	GGC	.		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		A	23588089	C	A	23588089	3	1	42	1	0	0	0	0	1	0	0	0	3209	739	26	3	641	3	CEBPE	14	23588089	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2718915	23588089	83761451	166	9364											
SAMD4A	23034	hgsc.bcm.edu	37	chr14	55227103	55227103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccccctcggccggggcCagcggggggctccagccgca	16	19	0	0	rs12879706	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:55227103C>T	ENST00000554335.1	+	7	2064	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	SAMD4A_ENST00000555192.1_Silent_p.A58A|SAMD4A_ENST00000357634.3_Silent_p.A466A|SAMD4A_ENST00000392067.3_Silent_p.A467A|SAMD4A_ENST00000251091.5_Silent_p.A379A			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	467					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						CGGCCGGGGCCAGCGGGGGGC	0.751													C|||	109	0.0217652	0.0038	0.036	5008	,	,		10140	0.001		0.0527	False		,,,				2504	0.0256				p.A467A		.											.	SAMD4A-90	0			c.C1401T						.	C	,,	26,3040		0,26,1507	3	5	4		1134,174,1398	2.5	1	14	dbSNP_121	4	374,6284		6,362,2961	no	coding-synonymous,coding-synonymous,coding-synonymous	SAMD4A	NM_001161576.2,NM_001161577.1,NM_015589.5	,,	6,388,4468	TT,TC,CC		5.6173,0.848,4.1135	,,	378/630,58/346,466/718	55227103	400,9324	1533	3329	4862	SO:0001819	synonymous_variant	23034	exon6			CGGGGCCAGCGGG	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.1401C>T	14.37:g.55227103C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015589	0	0	0	0	0	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																			C|0.973;T|0.027		0.751	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55227103	C	T	55227103	2	4	42	1	0	0	0	0	0	0	0	1	13866	581	21	3		3	SAMD4A	14	55227103	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	31639014	55227103	52122437	167	9365											
ALKBH1	8846	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	78161095	78161095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttacctcaggaactctttGctctgttcccacagatcttg	6	13	4	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:78161095G>T	ENST00000216489.3	-	3	456	c.441C>A	c.(439-441)agC>agA	p.S147R	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	147					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGAACTCTTTGCTCTGTTCCC	0.403																																					p.S147R		.											.	ALKBH1-228	0			c.C441A						.						202	199	200					14																	78161095		2203	4300	6503	SO:0001583	missense	8846	exon3			CTCTTTGCTCTGT	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.441C>A	14.37:g.78161095G>T	ENSP00000216489:p.Ser147Arg	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	77	6	NM_006020	0	0	0	0	0	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440762	0.43326	.	.	ENSG00000100601	ENST00000216489	T	0.32753	1.44	6.17	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.56280	1.765	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.19778	-1.0295	10	0.26408	T	0.33	-27.5885	9.9345	0.41543	0.2775:0.0:0.7225:0.0	.	147	Q13686	ALKB1_HUMAN	R	147	ENSP00000216489:S147R	ENSP00000216489:S147R	S	-	3	2	ALKBH1	77230848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.082000	0.30803	0.804000	0.34136	0.655000	0.94253	AGC	.		0.403	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		T	78161095	G	T	78161095	3	4	42	1	0	0	0	0	1	0	0	0	526	1310	46	3	744	3	ALKBH1	14	78161095	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	22933992	78161095	29188445	168	9366											
SNW1	22938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	78205323	78205323	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttacctctttaatagcttCttcatcgggcctttgcaggt	8	10	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:78205323C>A	ENST00000261531.7	-	4	474	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Nonsense_Mutation_p.E138*	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	138					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTAATAGCTTCTTCATCGGGC	0.363																																					p.E138X		.											.	SNW1-187	0			c.G412T						.						278	295	289					14																	78205323		2203	4300	6503	SO:0001587	stop_gained	22938	exon4			TAGCTTCTTCATC	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.412G>T	14.37:g.78205323C>A	ENSP00000261531:p.Glu138*	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	143	13	NM_012245	0	0	0	0	0	A8K8A9|Q13483|Q32N03|Q5D0D6	Nonsense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680715	0.88542	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.6779	0.95945	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000261531:E138X	E	-	1	0	SNW1	77275076	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.445000	0.80570	2.656000	0.90262	0.460000	0.39030	GAA	.		0.363	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		A	78205323	C	A	78205323	4	1	42	1	0	0	0	0	0	1	0	0	14924	922	32	3	1242	3	SNW1	14	78205323	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	44228	78205323	29144217	169	9367											
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	102484794	102484794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatctgtgcacaggttcctGcgccacgtgcctgtcgtgta	11	13	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:102484794G>A	ENST00000360184.4	+	41	8348	c.8184G>A	c.(8182-8184)ctG>ctA	p.L2728L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2728	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAGGTTCCTGCGCCACGTGC	0.657																																					p.L2728L		.											.	DYNC1H1-98	0			c.G8184A						.						72	53	60					14																	102484794		2203	4300	6503	SO:0001819	synonymous_variant	1778	exon41			GTTCCTGCGCCAC	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8184G>A	14.37:g.102484794G>A		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	79	7	NM_001376	0	0	0	0	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																			.		0.657	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102484794	G	A	102484794	2	1	42	1	0	0	0	0	0	0	0	1	4855	1306	46	3		3	DYNC1H1	14	102484794	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	24279471	102484794	4864746	170	9368											
CDC42BPB	9578	bcgsc.ca	37	chr14	103447136	103447136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcacgtcgtcatccaCgtcgaagttggatgtgtcag	11	11	3	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:103447136C>T	ENST00000361246.2	-	8	1402	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M		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)		TCGTCATCCACGTCGAAGTTG	0.493																																					p.V372M		.											.	CDC42BPB-581	0			c.G1114A						.						112	90	98					14																	103447136		2203	4300	6503	SO:0001583	missense	9578	exon8			CATCCACGTCGAA	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.1114G>A	14.37:g.103447136C>T	ENSP00000355237:p.Val372Met	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	166	8	NM_006035	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617961	0.87359	.	.	ENSG00000198752	ENST00000361246	T	0.40225	1.04	5.41	5.41	0.78517	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	P	0.59171	0.853	T	0.71606	-0.4542	10	0.87932	D	0	.	19.193	0.93675	0.0:1.0:0.0:0.0	.	372	Q9Y5S2	MRCKB_HUMAN	M	372	ENSP00000355237:V372M	ENSP00000355237:V372M	V	-	1	0	CDC42BPB	102516889	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	7.792000	0.85828	2.562000	0.86427	0.655000	0.94253	GTG	.		0.493	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		T	103447136	C	T	103447136	3	4	42	1	0	0	0	0	1	0	0	0	3080	536	19	1	4141	1	CDC42BPB	14	103447136	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	962342	103447136	3902404	171	9369											
C14orf73	91828	hgsc.bcm.edu	37	chr14	103568729	103568729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagcgcggaggaggaAgcccacccttctccccccga	14	15	1	1	rs10142200	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:103568729A>G	ENST00000380069.3	+	2	745	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	223					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGAGGAGGAAGCCCACCCTT	0.756													G|||	2646	0.528355	0.5666	0.5303	5008	,	,		12079	0.6042		0.3917	False		,,,				2504	0.5378				p.E223E		.											.	EXOC3L4-23	0			c.A669G						.	G		2098,2000		603,892,554	5	5	5		669	2.5	0.8	14	dbSNP_119	5	2949,5055		663,1623,1716	no	coding-synonymous	EXOC3L4	NM_001077594.1		1266,2515,2270	GG,GA,AA		36.8441,48.8043,41.7039		223/723	103568729	5047,7055	2049	4002	6051	SO:0001819	synonymous_variant	91828	exon2			GGAGGAAGCCCAC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.669A>G	14.37:g.103568729A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001077594	0	0	0	0	0	Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																			A|0.486;G|0.514		0.756	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		G	103568729	A	G	103568729	2	3	42	1	0	0	0	0	0	0	0	1	1784	69	3	4		4	C14orf73	14	103568729	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	121593	103568729	3780811	172	9370											
C14orf180	400258	hgsc.bcm.edu	37	chr14	105055119	105055127	+	Stop_Codon_Del	DEL	GACGGGCAG	GACGGGCAG	-													gcgcggcctcctgcggctctGacgggcaggacgggcaggac					rs111285011|rs569942489|rs11278058	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	GACGGGCAG	GACGGGCAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr14:105055119_105055127delGACGGGCAG	ENST00000557649.1	+	0	818_826				C14orf180_ENST00000410013.1_Stop_Codon_Del|C14orf180_ENST00000331952.2_In_Frame_Del_p.TGR153del|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CTGCGGCTCTgacgggcaggacgggcagg	0.718														3012	0.601438	0.8079	0.6095	5008	,	,		14598	0.6954		0.4235	False		,,,				2504	0.4029				p.161_161del		.											.	C14orf180-492	0			c.482_784del						.			1070,740		494,82,329						3	0.1		dbSNP_132	3	1279,3127		502,275,1426	no	coding	C14orf180	NM_001008404.1		996,357,1755	A1A1,A1R,RR		29.0286,40.884,37.7896				2349,3867				SO:0001567	stop_retained_variant	400258	exon5			GGCTCTGACGGGC		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	Exception_encountered	14.37:g.105055128_105055136delGACGGGCAG		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	18	4	NM_001008404	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000557649.1	37	CCDS32166.1																																																																																			-|1.000;|0.000		0.718	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		-	105055127	GACGGGCAG	-	105055119	7	5	42	1	0	1	0	1	0	0	0	0	1768	1285	45	0	496	0	C14orf180	14	105055119	Stop_Codon_Del	DEL	GACGGGCAG	TCGA-OR-A5L2-01A-11D-A30A-10	1486390	105055119	2294421	173	9371											
LBXCOR1	390598	hgsc.bcm.edu	37	chr15	68120014	68120014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgcccgggaggcgtaCggcgcggggcctgctcgggg	23	12	0	0	rs62015251	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:68120014C>T	ENST00000380035.2	+	2	1906	c.1848C>T	c.(1846-1848)taC>taT	p.Y616Y	SKOR1_ENST00000554054.1_Silent_p.Y588Y|SKOR1_ENST00000341418.5_Silent_p.Y556Y|SKOR1_ENST00000554240.1_Silent_p.Y577Y|SKOR1_ENST00000389002.1_Silent_p.Y572Y			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	616					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGGAGGCGTACGGCGCGGGGC	0.716													C|||	430	0.0858626	0.0106	0.121	5008	,	,		9530	0.1101		0.1193	False		,,,				2504	0.1033				p.Y556Y		.											.	SKOR1-90	0			c.C1668T						.	C		62,3022		0,62,1480	3	4	4		1716	-1.9	0.1	15	dbSNP_129	4	460,5730		9,442,2644	no	coding-synonymous	SKOR1	NM_001031807.1		9,504,4124	TT,TC,CC		7.4313,2.0104,5.6286		572/922	68120014	522,8752	1542	3095	4637	SO:0001819	synonymous_variant	390598	exon7			GGCGTACGGCGCG		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1848C>T	15.37:g.68120014C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	15	NM_001258024	0	0	0	0	0	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																				C|0.908;T|0.092		0.716	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68120014	C	T	68120014	2	4	42	1	0	0	0	0	0	0	0	1	8683	547	19	1		1	LBXCOR1	15	68120014	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		68120014	34411378	174	9372											
C15orf59	388135	broad.mit.edu	37	chr15	74032929	74032929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtggccgtggtccagtcgtCcggctccagttcaaagtcga	13	12	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:74032929C>A	ENST00000569673.1	-	3	1415	c.211G>T	c.(211-213)Gac>Tac	p.D71Y	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.D71Y			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	71										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCCAGTCGTCCGGCTCCAGT	0.617																																					p.D71Y		.											.	C15orf59-91	0			c.G211T						.						159	162	161					15																	74032929		2198	4297	6495	SO:0001583	missense	388135	exon2			AGTCGTCCGGCTC		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.211G>T	15.37:g.74032929C>A	ENSP00000457205:p.Asp71Tyr	Somatic	239	2		WXS	Illumina GAIIx	Phase_I	313	7	NM_001039614	0	0	0	0	0		Missense_Mutation	SNP	ENST00000569673.1	37	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230755	0.79688	.	.	ENSG00000205363	ENST00000379822	T	0.63096	-0.02	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80542	-0.1336	10	0.87932	D	0	.	17.5722	0.87937	0.0:1.0:0.0:0.0	.	71	Q2T9L4	CO059_HUMAN	Y	71	ENSP00000369150:D71Y	ENSP00000369150:D71Y	D	-	1	0	C15orf59	71819982	1.000000	0.71417	0.856000	0.33681	0.946000	0.59487	7.120000	0.77153	2.221000	0.72209	0.561000	0.74099	GAC	.		0.617	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		A	74032929	C	A	74032929	3	1	42	1	0	0	0	0	1	0	0	0	1812	855	30	3	674	3	C15orf59	15	74032929	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	5912915	74032929	28498463	175	9373											
CSPG4	1464	broad.mit.edu	37	chr15	75981765	75981765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggtgggtcattgacaggGttgacctggatgggcaggag	20	5	1	2	rs149356457	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:75981765G>T	ENST00000308508.5	-	3	1733	c.1641C>A	c.(1639-1641)aaC>aaA	p.N547K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	547	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATTGACAGGGTTGACCTGGA	0.622													G|||	5	0.000998403	0	0	5008	,	,		20725	0		0.001	False		,,,				2504	0.0041				p.N547K		.											.	CSPG4-229	0			c.C1641A						.	G	LYS/ASN	1,4393		0,1,2196	35	31	32		1641	3.2	0.1	15	dbSNP_134	32	13,8563		0,13,4275	no	missense	CSPG4	NM_001897.4	94	0,14,6471	TT,TG,GG		0.1516,0.0228,0.1079	benign	547/2323	75981765	14,12956	2197	4288	6485	SO:0001583	missense	1464	exon3			GACAGGGTTGACC	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.1641C>A	15.37:g.75981765G>T	ENSP00000312506:p.Asn547Lys	Somatic	185	2		WXS	Illumina GAIIx	Phase_I	226	9	NM_001897	0	0	0	0	0	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.454	-0.325794	0.05350	2.28E-4	0.001516	ENSG00000173546	ENST00000308508	T	0.45668	0.89	5.21	3.23	0.37069	.	0.608532	0.16274	N	0.221645	T	0.29288	0.0729	L	0.60455	1.87	0.41510	D	0.988332	B	0.32302	0.363	B	0.26969	0.075	T	0.08785	-1.0705	10	0.06236	T	0.91	.	5.9733	0.19365	0.1589:0.0:0.6881:0.153	.	547	Q6UVK1	CSPG4_HUMAN	K	547	ENSP00000312506:N547K	ENSP00000312506:N547K	N	-	3	2	CSPG4	73768820	0.381000	0.25140	0.100000	0.21137	0.055000	0.15305	0.522000	0.22909	0.507000	0.28148	0.555000	0.69702	AAC	G|0.998;T|0.002		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75981765	G	T	75981765	3	4	42	1	0	0	0	0	1	0	0	0	3969	1252	44	3	5359	3	CSPG4	15	75981765	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1948836	75981765	26549627	176	9374											
RASGRF1	5923	broad.mit.edu;bcgsc.ca	37	chr15	79290464	79290464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgttggctgcagccttccgCtcctgggtcaggagctccgg	14	13	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:79290464C>G	ENST00000419573.3	-	20	3262	c.2988G>C	c.(2986-2988)gaG>gaC	p.E996D	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E212D|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E980D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	996					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCCTTCCGCTCCTGGGTCA	0.587																																					p.E996D		.											.	RASGRF1-662	0			c.G2988C						.						126	104	112					15																	79290464		2196	4293	6489	SO:0001583	missense	5923	exon20			CTTCCGCTCCTGG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2988G>C	15.37:g.79290464C>G	ENSP00000405963:p.Glu996Asp	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	223	9	NM_002891	0	0	0	0	0	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493523	0.64186	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.31769	1.48;1.48	4.34	2.42	0.29668	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.55990	1.75	0.50039	D	0.999846	D;P;D;P	0.76494	0.999;0.716;0.997;0.712	D;P;D;P	0.70016	0.967;0.484;0.935;0.525	T	0.19745	-1.0296	10	0.21014	T	0.42	.	8.6248	0.33883	0.0:0.801:0.0:0.199	.	392;980;998;980	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	D	996;980;212	ENSP00000405963:E996D;ENSP00000378228:E212D	ENSP00000378224:E980D	E	-	3	2	RASGRF1	77077519	0.935000	0.31712	1.000000	0.80357	0.949000	0.60115	0.065000	0.14466	1.152000	0.42452	0.491000	0.48974	GAG	.		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79290464	C	G	79290464	3	3	42	1	0	0	0	0	1	0	0	0	13117	796	28	3	869	3	RASGRF1	15	79290464	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	3308699	79290464	23240928	177	9375											
HOMER2	9455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	83527785	83527785	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttaaaacagccttacctctGcgtcaaggcaatcttcagct	6	12	4	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:83527785G>C	ENST00000304231.8	-	5	715	c.523C>G	c.(523-525)Cag>Gag	p.Q175E	HOMER2_ENST00000399166.2_Missense_Mutation_p.Q164E|HOMER2_ENST00000426485.1_Missense_Mutation_p.Q175E|HOMER2_ENST00000450735.2_Missense_Mutation_p.Q164E	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	175					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CCTTACCTCTGCGTCAAGGCA	0.498																																					p.Q175E		.											.	HOMER2-67	0			c.C523G						.						118	122	121					15																	83527785		2000	4160	6160	SO:0001583	missense	9455	exon5			ACCTCTGCGTCAA	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.523C>G	15.37:g.83527785G>C	ENSP00000305632:p.Gln175Glu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	123	42	NM_199330	0	0	0	0	0	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	g	0.823	-0.747897	0.03065	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.76448	2.17;-1.02;2.64;2.61	5.92	5.92	0.95590	.	0.344001	0.31809	N	0.007024	T	0.70859	0.3272	L	0.37697	1.125	0.47905	D	0.999543	B;B;B;B	0.11235	0.0;0.003;0.004;0.003	B;B;B;B	0.11329	0.005;0.004;0.006;0.004	T	0.63752	-0.6566	10	0.17832	T	0.49	.	19.31	0.94184	0.0:0.0:1.0:0.0	.	164;175;164;175	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	E	175;164;175;164	ENSP00000305632:Q175E;ENSP00000407634:Q164E;ENSP00000394293:Q175E;ENSP00000382119:Q164E	ENSP00000305632:Q175E	Q	-	1	0	HOMER2	81324839	1.000000	0.71417	0.969000	0.41365	0.165000	0.22458	6.927000	0.75840	2.801000	0.96364	0.651000	0.88453	CAG	.		0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			C	83527785	G	C	83527785	3	2	42	1	0	0	0	0	1	0	0	0	7306	1328	46	3	561	3	HOMER2	15	83527785	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	4237321	83527785	19003607	178	9376											
SEC11A	23478	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	85230912	85230912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctcttccttctatcctAaaaacaacaatttctcccac	0	15	4	0	rs71395463		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:85230912A>G	ENST00000268220.7	-	3	895	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SEC11A_ENST00000558134.1_Silent_p.F85F|SEC11A_ENST00000560266.1_Silent_p.F85F|SEC11A_ENST00000455959.3_Silent_p.F59F|RP11-245C17.2_ENST00000558044.1_RNA	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	85					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CTTCTATCCTAAAAACAACAA	0.383																																					p.F85F		.											.	SEC11A-23	0			c.T255C						.						187	173	177					15																	85230912		1845	4096	5941	SO:0001819	synonymous_variant	23478	exon3			TATCCTAAAAACA	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.255T>C	15.37:g.85230912A>G		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	113	7	NM_014300	0	0	0	0	0	B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	CCDS45340.1																																																																																			A|0.500;T|0.500		0.383	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		G	85230912	A	G	85230912	2	3	42	1	0	0	0	0	0	0	0	1	14023	359	13	4		4	SEC11A	15	85230912	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	1703127	85230912	17300480	179	9377											
RCCD1	91433	hgsc.bcm.edu	37	chr15	91500017	91500017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcggtttctgcggcttcgGgcaggagctgggctccggac	16	12	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr15:91500017G>T	ENST00000394258.2	+	2	255	c.53G>T	c.(52-54)gGg>gTg	p.G18V	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556618.1_Missense_Mutation_p.G18V|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.G18V	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	18						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)			TGCGGCTTCGGGCAGGAGCTG	0.771											OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G18V		.											.	RCCD1-90	0			c.G53T						.						6	10	9					15																	91500017		2100	4118	6218	SO:0001583	missense	91433	exon2			GCTTCGGGCAGGA		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.53G>T	15.37:g.91500017G>T	ENSP00000377801:p.Gly18Val	Somatic	4	0	1283	WXS	Illumina GAIIx	Phase_I	37	13	NM_001017919	0	0	0	0	0	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126738	0.77549	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618	D;D;D	0.87571	-2.27;-2.27;-2.27	4.27	4.27	0.50696	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.324062	0.26832	N	0.022266	D	0.91243	0.7240	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91692	0.5367	10	0.87932	D	0	.	12.4283	0.55559	0.0:0.0:1.0:0.0	.	18;18	G3V2I3;A6NED2	.;RCCD1_HUMAN	V	18	ENSP00000377801:G18V;ENSP00000450678:G18V;ENSP00000451963:G18V	ENSP00000377801:G18V	G	+	2	0	RCCD1	89301021	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.507000	0.53371	2.386000	0.81285	0.555000	0.69702	GGG	.		0.771	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		T	91500017	G	T	91500017	3	4	42	1	0	0	0	0	1	0	0	0	13220	1232	43	3	55	3	RCCD1	15	91500017	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	6269105	91500017	11031375	180	9378											
C16orf89	146556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	5097933	5097933	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgaaaaatgctgctgatattGaatagctttagataattctt	7	5	1	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:5097933G>T	ENST00000315997.5	-	7	1102	c.901C>A	c.(901-903)Caa>Aaa	p.Q301K	C16orf89_ENST00000350219.4_Missense_Mutation_p.Q339K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.Q301K|C16orf89_ENST00000474471.3_Missense_Mutation_p.Q333K|C16orf89_ENST00000422873.1_Missense_Mutation_p.Q339K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	301						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TGCTGATATTGAATAGCTTTA	0.323																																					p.Q301K		.											.	C16orf89-92	0			c.C901A						.						66	59	61					16																	5097933		1803	4069	5872	SO:0001583	missense	146556	exon7			GATATTGAATAGC		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.901C>A	16.37:g.5097933G>T	ENSP00000324672:p.Gln301Lys	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	39	18	NM_001098514	0	0	0	0	0	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403295	0.25291	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.40225	1.09;1.04;1.04;1.09	4.67	1.23	0.21249	.	0.835381	0.10367	N	0.683340	T	0.29423	0.0733	L	0.44542	1.39	0.09310	N	1	B;B	0.29716	0.255;0.137	B;B	0.21917	0.024;0.037	T	0.18587	-1.0332	10	0.12430	T	0.62	-10.4613	9.1691	0.37069	0.0:0.3777:0.4824:0.1399	.	301;339	Q6UX73;G3V0F0	CP089_HUMAN;.	K	333;301;301;339;339;333	ENSP00000417158:Q333K;ENSP00000420566:Q301K;ENSP00000390402:Q339K;ENSP00000283478:Q339K	ENSP00000324672:Q333K	Q	-	1	0	C16orf89	5037934	0.001000	0.12720	0.000000	0.03702	0.173000	0.22820	0.634000	0.24614	0.450000	0.26774	0.561000	0.74099	CAA	.		0.323	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		T	5097933	G	T	5097933	3	4	42	1	0	0	0	0	1	0	0	0	1847	1299	45	3	450	3	C16orf89	16	5097933	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		5097933	85256820	181	9379											
ABCC6	368	broad.mit.edu	37	chr16	16302676	16302676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcccaagcgaccagaggtCttttggtctcagtggcctcc	10	14	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:16302676C>A	ENST00000205557.7	-	7	732	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	235					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)	p.D235Y(1)		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)	GACCAGAGGTCTTTTGGTCTC	0.567																																					p.D235Y		.											.	ABCC6-93	1	Substitution - Missense(1)	large_intestine(1)	c.G703T						.						28	28	28					16																	16302676		2195	4273	6468	SO:0001583	missense	368	exon7			AGAGGTCTTTTGG	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.703G>T	16.37:g.16302676C>A	ENSP00000205557:p.Asp235Tyr	Somatic	303	2		WXS	Illumina GAIIx	Phase_I	310	87	NM_001171	0	0	0	0	0	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.803965	0.50315	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.97114	-4.25;-4.25	4.09	4.09	0.47781	.	0.000000	0.51477	U	0.000090	D	0.98785	0.9591	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.99429	1.0935	10	0.87932	D	0	.	13.3002	0.60321	0.0:1.0:0.0:0.0	.	247;235	F5GWQ0;O95255	.;MRP6_HUMAN	Y	235;235;247	ENSP00000205557:D235Y;ENSP00000405002:D235Y	ENSP00000205557:D235Y	D	-	1	0	ABCC6	16210177	1.000000	0.71417	0.928000	0.36995	0.543000	0.35085	4.699000	0.61796	1.857000	0.53885	0.479000	0.44913	GAC	.		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16302676	C	A	16302676	3	1	42	1	0	0	0	0	1	0	0	0	57	913	32	3	3908	3	ABCC6	16	16302676	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	11204743	16302676	74052077	182	9380											
CLN3	1201	bcgsc.ca	37	chr16	28502861	28502861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacagagggagccgggGctccgggacggtctcctccc	15	15	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:28502861G>T	ENST00000569430.1	-	4	886	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	CLN3_ENST00000357806.7_Missense_Mutation_p.P23T|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.P23T|CLN3_ENST00000567963.1_Missense_Mutation_p.P23T|CLN3_ENST00000565316.1_Missense_Mutation_p.P23T|CLN3_ENST00000333496.9_Missense_Mutation_p.P23T|CLN3_ENST00000355477.5_Missense_Mutation_p.P23T|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000360019.2_Missense_Mutation_p.P23T|CLN3_ENST00000354630.5_Missense_Mutation_p.P23T|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000357076.5_Missense_Mutation_p.P23T|CLN3_ENST00000567160.1_5'Flank			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	23					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGGAGCCGGGGCTCCGGGACG	0.647											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P23T		.											.	CLN3-90	0			c.C67A						.						28	29	29					16																	28502861		2197	4300	6497	SO:0001583	missense	1201	exon3			GCCGGGGCTCCGG	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.67C>A	16.37:g.28502861G>T	ENSP00000454229:p.Pro23Thr	Somatic	86	0	802	WXS	Illumina GAIIx	Phase_I	72	4	NM_001042432	0	0	0	0	0	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741149	0.49151	.	.	ENSG00000188603	ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000333496;ENST00000357806;ENST00000357076	T;T;T;T;T;D;D	0.93906	0.19;0.19;0.19;0.19;0.19;-3.31;-3.23	4.93	1.67	0.24075	Major facilitator superfamily domain, general substrate transporter (1);	0.391297	0.23660	N	0.045827	T	0.81564	0.4849	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.27416	0.004;0.178;0.037;0.012;0.164;0.021;0.004;0.047	B;B;B;B;B;B;B;B	0.24394	0.003;0.053;0.013;0.005;0.04;0.007;0.003;0.027	T	0.73620	-0.3925	10	0.72032	D	0.01	-3.7534	3.8364	0.08896	0.1989:0.0:0.6105:0.1906	.	23;23;23;74;23;23;23;23	B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95090;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	T	23	ENSP00000353073:P23T;ENSP00000353116:P23T;ENSP00000346650:P23T;ENSP00000347660:P23T;ENSP00000329171:P23T;ENSP00000350457:P23T;ENSP00000349586:P23T	ENSP00000329171:P23T	P	-	1	0	CLN3	28410362	0.000000	0.05858	0.001000	0.08648	0.416000	0.31233	-0.012000	0.12699	0.771000	0.33359	0.651000	0.88453	CCC	.		0.647	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			T	28502861	G	T	28502861	3	4	42	1	0	0	0	0	1	0	0	0	3550	1203	42	3	1305	3	CLN3	16	28502861	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	12200185	28502861	61851892	183	9381											
APOB48R	55911	bcgsc.ca	37	chr16	28508069	28508069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgagctgatggggggCgcccagaccccaactaagca	14	13	0	3	rs151174	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:28508069C>T	ENST00000431282.1	+	3	1690	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.G560G|APOBR_ENST00000564831.1_Silent_p.G569G|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	560	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						TGATGGGGGGCGCCCAGACCC	0.637													C|||	1194	0.238419	0.2156	0.4135	5008	,	,		17870	0.0933		0.3469	False		,,,				2504	0.183				p.G569G		.											.	APOBR-90	0			c.C1707T						.	C		977,3027		149,679,1174	8	9	9		1680	-9.6	0	16	dbSNP_79	9	3211,5119		667,1877,1621	no	coding-synonymous	APOBR	NM_018690.3		816,2556,2795	TT,TC,CC		38.5474,24.4006,33.9549		560/1089	28508069	4188,8146	2002	4165	6167	SO:0001819	synonymous_variant	55911	exon2			GGGGGGCGCCCAG	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.1680C>T	16.37:g.28508069C>T		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	208	7	NM_018690	0	0	0	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																				C|0.746;T|0.254		0.637	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		T	28508069	C	T	28508069	2	4	42	1	0	0	0	0	0	0	0	1	786	755	27	1		1	APOB48R	16	28508069	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	5208	28508069	61846684	184	9382											
VPS35	55737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	46705646	46705646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagggtcctcagagcGcagcagatgaatgaagcggc	15	10	2	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:46705646G>A	ENST00000299138.7	-	12	1553	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	499					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTCAGAGCGCAGCAGATGA	0.468																																					p.R499C		.											.	VPS35-90	0			c.C1495T						.						66	58	61					16																	46705646		2203	4300	6503	SO:0001583	missense	55737	exon12			CAGAGCGCAGCAG	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1495C>T	16.37:g.46705646G>A	ENSP00000299138:p.Arg499Cys	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	154	29	NM_018206	0	0	0	0	0	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	8.437	0.849846	0.17034	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.65916	-0.18	5.34	2.18	0.27775	.	0.160364	0.53938	D	0.000041	T	0.54532	0.1864	L	0.48642	1.525	0.34625	D	0.718991	D;B	0.59357	0.985;0.015	P;B	0.45071	0.468;0.004	T	0.65582	-0.6133	10	0.54805	T	0.06	-12.8024	9.4018	0.38437	0.068:0.0:0.6787:0.2534	.	499;364	Q96QK1;F5GYF5	VPS35_HUMAN;.	C	499;364	ENSP00000299138:R499C	ENSP00000299138:R499C	R	-	1	0	VPS35	45263147	0.999000	0.42202	0.026000	0.17262	0.042000	0.13812	5.610000	0.67668	0.582000	0.29556	-0.500000	0.04577	CGC	.		0.468	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			A	46705646	G	A	46705646	3	1	42	1	0	0	0	0	1	0	0	0	17252	1087	38	1	919	1	VPS35	16	46705646	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	18197577	46705646	43649107	185	9383											
DNAJA2	10294	broad.mit.edu;bcgsc.ca	37	chr16	47005448	47005448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taactcacgcttctcaggatTtgatagtacttcatatgcaa	6	9	3	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:47005448T>A	ENST00000317089.5	-	3	390	c.175A>T	c.(175-177)Aat>Tat	p.N59Y	RP11-169E6.1_ENST00000562536.1_RNA	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	59	J.				positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTCAGGATTTGATAGTACT	0.378																																					p.N59Y		.											.	DNAJA2-226	0			c.A175T						.						142	149	147					16																	47005448		2203	4300	6503	SO:0001583	missense	10294	exon3			CAGGATTTGATAG	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.175A>T	16.37:g.47005448T>A	ENSP00000314030:p.Asn59Tyr	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	52	17	NM_005880	0	0	0	0	0	B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.214932	0.79352	.	.	ENSG00000069345	ENST00000317089	T	0.74106	-0.81	5.95	3.72	0.42706	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.91459	3.21	0.80722	D	1	D	0.63046	0.992	D	0.65684	0.937	D	0.87043	0.2142	10	0.87932	D	0	-28.9298	10.3577	0.43974	0.0:0.1321:0.0:0.8679	.	59	O60884	DNJA2_HUMAN	Y	59	ENSP00000314030:N59Y	ENSP00000314030:N59Y	N	-	1	0	DNAJA2	45562949	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	5.162000	0.64942	0.505000	0.28104	0.533000	0.62120	AAT	.		0.378	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			A	47005448	T	A	47005448	3	1	42	1	0	0	0	0	1	0	0	0	4626	1841	64	5	1091	5	DNAJA2	16	47005448	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	299802	47005448	43349305	186	9384											
ABCC11	85320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	48261750	48261750	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctgaggcatcatggactGacagtggagggatggtgttc	16	6	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:48261750G>C	ENST00000394747.1	-	3	711	c.362C>G	c.(361-363)tCa>tGa	p.S121*	ABCC11_ENST00000537808.1_Nonsense_Mutation_p.S121*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.S121*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.S121*|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.S121*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	121					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)	ATCATGGACTGACAGTGGAGG	0.502																																					p.S121X		.											.	ABCC11-95	0			c.C362G						.						158	143	148					16																	48261750		2200	4300	6500	SO:0001587	stop_gained	85320	exon3			TGGACTGACAGTG	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.362C>G	16.37:g.48261750G>C	ENSP00000378230:p.Ser121*	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	111	20	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986469	0.97173	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.6164	10.257	0.43403	0.0909:0.0:0.9091:0.0	.	.	.	.	X	121	.	ENSP00000311326:S121X	S	-	2	0	ABCC11	46819251	0.997000	0.39634	0.648000	0.29521	0.448000	0.32197	3.178000	0.50879	1.348000	0.45733	0.655000	0.94253	TCA	.		0.502	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		C	48261750	G	C	48261750	4	2	42	1	0	0	0	0	0	1	0	0	51	1294	45	3	3894	3	ABCC11	16	48261750	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1256302	48261750	42093003	187	9385											
CDH5	1003	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	66420935	66420935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagttcatgacgtgaAcgacaactggcctgtgttca	9	10	3	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:66420935A>G	ENST00000341529.3	+	3	582	c.434A>G	c.(433-435)aAc>aGc	p.N145S	CDH5_ENST00000563425.2_Missense_Mutation_p.N145S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	145	Cadherin 1. {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)	CATGACGTGAACGACAACTGG	0.542																																					p.N145S		.											.	CDH5-525	0			c.A434G						.						134	103	113					16																	66420935		2202	4300	6502	SO:0001583	missense	1003	exon3			ACGTGAACGACAA	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.434A>G	16.37:g.66420935A>G	ENSP00000344115:p.Asn145Ser	Somatic	272	0		WXS	Illumina GAIIx	Phase_I	345	18	NM_001795	0	0	0	0	0	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572509	0.86542	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	D	0.85171	-1.95	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95601	0.8570	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.97334	0.9952	9	0.87932	D	0	.	14.7103	0.69225	1.0:0.0:0.0:0.0	.	145	P33151	CADH5_HUMAN	S	145	ENSP00000344115:N145S	ENSP00000344115:N145S	N	+	2	0	CDH5	64978436	1.000000	0.71417	0.060000	0.19600	0.940000	0.58332	8.621000	0.90949	2.208000	0.71279	0.533000	0.62120	AAC	.		0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		G	66420935	A	G	66420935	3	3	42	1	0	0	0	0	1	0	0	0	3120	43	2	4	440	4	CDH5	16	66420935	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	18159185	66420935	23933818	188	9386											
KLHDC4	54758	bcgsc.ca	37	chr16	87788864	87788864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccaggtgtcctttctgGtattgtagacatagagctcg	12	8	1	2	rs2303771	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:87788864G>A	ENST00000270583.5	-	4	363	c.305C>T	c.(304-306)aCc>aTc	p.T102I	KLHDC4_ENST00000347925.5_Missense_Mutation_p.T102I|KLHDC4_ENST00000353170.5_Missense_Mutation_p.T45I	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	102			T -> I (in dbSNP:rs2303771). {ECO:0000269|PubMed:15489334}.							breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTCCTTTCTGGTATTGTAGAC	0.483													A|||	2039	0.407149	0.3888	0.4481	5008	,	,		22238	0.3403		0.3539	False		,,,				2504	0.5266				p.T102I		.											.	KLHDC4-182	0			c.C305T						.	A	ILE/THR,ILE/THR,ILE/THR	1665,2731	654.8+/-399.8	318,1029,851	186	172	177		134,305,305	1.5	0.1	16	dbSNP_100	177	3025,5575	663.6+/-402.1	541,1943,1816	yes	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	89,89,89	859,2972,2667	AA,AG,GG		35.1744,37.8753,36.088	benign,benign,benign	45/464,102/490,102/521	87788864	4690,8306	2198	4300	6498	SO:0001583	missense	54758	exon4			TTTCTGGTATTGT	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.305C>T	16.37:g.87788864G>A	ENSP00000270583:p.Thr102Ile	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	145	8	NM_001184856	0	0	0	0	0	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	CCDS10963.1	830	0.38003663003663	195	0.39634146341463417	152	0.4198895027624309	207	0.3618881118881119	276	0.3641160949868074	A	0.013	-1.635015	0.00806	0.378753	0.351744	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.65549	1.1;1.1;-0.16	5.12	1.51	0.23008	Kelch-type beta propeller (1);	0.047155	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00315	-1.66	0.53005	P	3.100000000000325E-5	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.42582	-0.9443	9	0.02654	T	1	-2.372	9.2513	0.37557	0.7072:0.0:0.2928:0.0	rs2303771;rs17845301;rs17858136;rs2303771	45;102;102	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	I	102;102;45	ENSP00000270583:T102I;ENSP00000325717:T102I;ENSP00000262530:T45I	ENSP00000270583:T102I	T	-	2	0	KLHDC4	86346365	1.000000	0.71417	0.068000	0.19968	0.048000	0.14542	4.201000	0.58439	-0.011000	0.14247	-0.361000	0.07541	ACC	G|0.634;A|0.366		0.483	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		A	87788864	G	A	87788864	3	1	42	1	0	0	0	0	1	0	0	0	8385	1261	44	3	1289	3	KLHDC4	16	87788864	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	21367929	87788864	2565889	189	9387											
RPL13	6137	hgsc.bcm.edu	37	chr16	89627671	89627671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcgcgccgcatcgcCccgcgccccgcgtcgggtcc	14	21	0	0	rs174035	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPL13_ENST00000567815.1_Silent_p.A47A|RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000452368.3_Silent_p.A47A|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3	4	3		141,141	0.9	1	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	12	NM_001243131	0	0	0	0	0	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627671	C	T	89627671	2	4	42	1	0	0	0	0	0	0	0	1	13604	610	22	3		3	RPL13	16	89627671	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1838807	89627671	727082	190	9388											
NOS2	4843	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26110037	26110037	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcctgcttggtggcgAagatgagctcatctcccgtc	13	13	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:26110037A>T	ENST00000313735.6	-	6	796	c.563T>A	c.(562-564)tTc>tAc	p.F188Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	188					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTTGGTGGCGAAGATGAGCTC	0.552																																					p.F188Y		.											.	NOS2-156	0			c.T563A						.						251	176	201					17																	26110037		2203	4300	6503	SO:0001583	missense	4843	exon6			GTGGCGAAGATGA	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.563T>A	17.37:g.26110037A>T	ENSP00000327251:p.Phe188Tyr	Somatic	147	1		WXS	Illumina GAIIx	Phase_I	228	45	NM_000625	0	0	0	0	0	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	8.831	0.939976	0.18281	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.19394	2.15	5.62	-0.0521	0.13824	Nitric oxide synthase, oxygenase domain (3);	0.486738	0.21246	N	0.077722	T	0.08582	0.0213	N	0.10874	0.06	0.42659	D	0.993472	B;B	0.14012	0.009;0.005	B;B	0.18561	0.006;0.022	T	0.30563	-0.9974	10	0.12766	T	0.61	.	7.4507	0.27237	0.3792:0.098:0.0:0.5228	.	188;188	F8WEM3;P35228	.;NOS2_HUMAN	Y	188	ENSP00000327251:F188Y	ENSP00000305638:F188Y	F	-	2	0	NOS2	23134164	0.974000	0.33945	0.497000	0.27552	0.907000	0.53573	1.894000	0.39768	-0.007000	0.14345	-0.395000	0.06472	TTC	.		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		T	26110037	A	T	26110037	3	4	42	1	0	0	0	0	1	0	0	0	10582	246	9	5	2986	5	NOS2	17	26110037	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10		26110037	55085173	191	9389											
ACCN1	40	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	31618452	31618452	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagttgtgcggcccgcagaGctcgccgcggtacttgcagg	16	12	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:31618452G>C	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.L228V	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GGCCCGCAGAGCTCGCCGCGG	0.697																																					p.L228V		.											.	.	0			c.C682G						.						22	26	24					17																	31618452		2191	4275	6466	SO:0001627	intron_variant	40	exon1			CGCAGAGCTCGCC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179367C>G	17.37:g.31618452G>C		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	116	17	NM_183377	0	0	0	0	0	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107706	0.20714	.	.	ENSG00000108684	ENST00000225823	T	0.62788	0.0	4.74	4.74	0.60224	.	0.697027	0.13809	N	0.361253	T	0.45094	0.1325	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.17098	0.017	T	0.33497	-0.9866	10	0.34782	T	0.22	-14.056	11.0251	0.47741	0.0:0.1882:0.8118:0.0	.	228	E9PBX2	.	V	228	ENSP00000225823:L228V	ENSP00000225823:L228V	L	-	1	0	ACCN1	28642565	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	2.054000	0.41335	2.454000	0.82982	0.313000	0.20887	CTC	.		0.697	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		C	31618452	G	C	31618452	1	2	42	0	1	0	0	0	0	0	0	0	128	971	34	3		3	ACCN1	17	31618452	Intron	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	5508415	31618452	49576758	192	9390											
RAD51L3	5892	broad.mit.edu	37	chr17	33428353	33428353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtttgagcctcccgCtgtccctgtctcgagttatg	13	12	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:33428353C>T	ENST00000345365.6	-	9	1025	c.770G>A	c.(769-771)aGc>aAc	p.S257N	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.S98N|RAD51D_ENST00000460118.2_Missense_Mutation_p.S138N|RAD51D_ENST00000360276.3_Missense_Mutation_p.S212N|RAD51D_ENST00000394589.4_Missense_Mutation_p.S257N|RAD51D_ENST00000590016.1_Missense_Mutation_p.S277N|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.S145N	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	257					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.S145N(1)|p.S277N(1)|p.S257N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCCTCCCGCTGTCCCTGTC	0.552								Direct reversal of damage																													p.S277N		.											.	RAD51D-228	3	Substitution - Missense(3)	endometrium(3)	c.G830A						.						101	91	94					17																	33428353		2203	4300	6503	SO:0001583	missense	5892	exon9			CTCCCGCTGTCCC	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"recombination repair protein", "DNA repair protein RAD51 homolog 4"	602954	"RAD51 (S. cerevisiae)-like 3", "RAD51-like 3 (S. cerevisiae)", "RAD51 homolog D (S. cerevisiae)"	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.770G>A	17.37:g.33428353C>T	ENSP00000338790:p.Ser257Asn	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	65	3	NM_001142571	0	0	0	0	0	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671386	0.29693	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.65364	-0.15;-0.15	4.86	3.88	0.44766	ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.296032	0.42294	D	0.000736	T	0.47581	0.1453	N	0.21373	0.66	0.80722	D	1	B;B;B;B	0.21147	0.007;0.052;0.001;0.003	B;B;B;B	0.17433	0.007;0.018;0.01;0.004	T	0.49244	-0.8960	10	0.72032	D	0.01	-10.5839	11.8253	0.52263	0.0:0.6587:0.3413:0.0	.	277;145;257;257	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	N	257;277;257;212;145	ENSP00000338790:S257N;ENSP00000353417:S212N	ENSP00000338408:S257N	S	-	2	0	RAD51D	30452466	0.229000	0.23729	0.860000	0.33809	0.834000	0.47266	0.555000	0.23422	1.394000	0.46624	0.655000	0.94253	AGC	.		0.552	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		T	33428353	C	T	33428353	3	4	42	1	0	0	0	0	1	0	0	0	13035	797	28	3	224	3	RAD51L3	17	33428353	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1809901	33428353	47766857	193	9391											
AATF	26574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	35310421	35310421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgggagcagtgaggaggaGgaagacgaagagagtggcat	19	4	0	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:35310421G>C	ENST00000225402.5	+	3	770	c.519G>C	c.(517-519)gaG>gaC	p.E173D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	173	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GTGAGGAGGAGGAAGACGAAG	0.517																																					p.E173D	NSCLC(49;901 1159 19183 41572 46244)	.											.	AATF-90	0			c.G519C						.						171	155	160					17																	35310421		2203	4300	6503	SO:0001583	missense	26574	exon3			GGAGGAGGAAGAC	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.519G>C	17.37:g.35310421G>C	ENSP00000225402:p.Glu173Asp	Somatic	244	0		WXS	Illumina GAIIx	Phase_I	306	116	NM_012138	0	0	0	0	0	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	4.825	0.153363	0.09185	.	.	ENSG00000108270	ENST00000225402	T	0.37058	1.22	5.57	-2.04	0.07343	.	0.438178	0.28971	N	0.013554	T	0.23171	0.0560	L	0.46157	1.445	0.30997	N	0.720718	B	0.18610	0.029	B	0.09377	0.004	T	0.29119	-1.0022	10	0.16896	T	0.51	-13.2614	7.8973	0.29715	0.5835:0.1209:0.2956:0.0	.	173	Q9NY61	AATF_HUMAN	D	173	ENSP00000225402:E173D	ENSP00000225402:E173D	E	+	3	2	AATF	32384534	0.017000	0.18338	0.887000	0.34795	0.892000	0.51952	-1.013000	0.03645	-0.624000	0.05611	-0.150000	0.13652	GAG	.		0.517	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		C	35310421	G	C	35310421	3	2	42	1	0	0	0	0	1	0	0	0	25	991	35	3	529	3	AATF	17	35310421	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1882068	35310421	45884789	194	9392											
C17orf78	284099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	35734873	35734873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatcttcccaaaagacGtgagaagcatcagagaattg	11	8	2	3	rs184660990	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:35734873G>A	ENST00000300618.4	+	2	165	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.V39M|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	39						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)				CCCAAAAGACGTGAGAAGCAT	0.478													G|||	4	0.000798722	0.003	0	5008	,	,		11858	0		0	False		,,,				2504	0				p.V39M		.											.	.	0			c.G115A						.	G	MET/VAL,,	22,3702		0,22,1840	85	82	83		115,,	2.5	0.8	17		83	1,8207		0,1,4103	yes	missense,intron,intron	ACACA,C17orf78	NM_173625.3,NM_198834.1,NM_198839.1	21,,	0,23,5943	AA,AG,GG		0.0122,0.5908,0.1928	probably-damaging,,	39/276,,	35734873	23,11909	1862	4104	5966	SO:0001583	missense	284099	exon2			AAAGACGTGAGAA	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.115G>A	17.37:g.35734873G>A	ENSP00000300618:p.Val39Met	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	323	49	NM_173625	0	0	0	0	0	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.734	1.163160	0.21538	0.005908	1.22E-4	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.48836	0.8	4.62	2.48	0.30137	.	0.809641	0.10650	N	0.649957	T	0.18841	0.0452	N	0.20986	0.625	0.24988	N	0.991559	P;P	0.42961	0.795;0.708	B;B	0.31101	0.086;0.124	T	0.06770	-1.0808	10	0.44086	T	0.13	0.0789	5.715	0.17954	0.2489:0.0:0.7511:0.0	.	39;39	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	M	39	ENSP00000300618:V39M	ENSP00000300618:V39M	V	+	1	0	C17orf78	32808986	0.995000	0.38212	0.765000	0.31456	0.862000	0.49288	0.389000	0.20751	1.170000	0.42753	0.650000	0.86243	GTG	G|0.999;A|0.001		0.478	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		A	35734873	G	A	35734873	3	1	42	1	0	0	0	0	1	0	0	0	1889	1145	40	1	121	1	C17orf78	17	35734873	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	424452	35734873	45460337	195	9393											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274069	39274069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtggtgtggcaggagactcGgccacagactggacgcaggc	17	10	0	2	rs349771	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:39274069G>C	ENST00000391413.2	-	1	537	c.499C>G	c.(499-501)Cga>Gga	p.R167G		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	167				R -> G (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGAGACTCGGCCACAGACT	0.662													g|||	2320	0.463259	0.4365	0.487	5008	,	,		17612	0.252		0.661	False		,,,				2504	0.4969				p.R167G		.											.	.	0			c.C499G						.						35	39	38					17																	39274069		692	1590	2282	SO:0001583	missense	653240	exon1			AGACTCGGCCACA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.499C>G	17.37:g.39274069G>C	ENSP00000375232:p.Arg167Gly	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	206	6	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	994	0.4551282051282051	207	0.42073170731707316	186	0.5138121546961326	136	0.23776223776223776	465	0.6134564643799473	.	12.44	1.937647	0.34189	.	.	ENSG00000212721	ENST00000391413	T	0.00622	6.16	3.95	2.95	0.34219	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.44643	P	0.0023760000000000447	B	0.29646	0.253	B	0.28305	0.088	T	0.00202	-1.1925	8	0.51188	T	0.08	.	11.1465	0.48434	0.0:0.0:0.8133:0.1867	rs349771;rs62066327	167	Q9BYQ6	KR411_HUMAN	G	167	ENSP00000375232:R167G	ENSP00000375232:R167G	R	-	1	2	KRTAP4-11	36527595	0.116000	0.22171	0.948000	0.38648	0.879000	0.50718	2.143000	0.42187	0.934000	0.37316	0.609000	0.83330	CGA	G|0.750;C|0.250		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			C	39274069	G	C	39274069	3	2	42	1	0	0	0	0	1	0	0	0	8577	1124	39	2	92	2	KRTAP4-11	17	39274069	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3539196	39274069	41921141	196	9394											
KRT32	3882	broad.mit.edu	37	chr17	39619136	39619136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatctcgccctccagcCgggcccggacgtccagcagc	12	17	1	1	rs553131906	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:39619136C>T	ENST00000225899.3	-	6	1266	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	388	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCCCTCCAGCCGGGCCCGGAC	0.632													C|||	2	0.000399361	0	0	5008	,	,		16397	0		0	False		,,,				2504	0.002				p.R388Q		.											.	KRT32-90	0			c.G1163A						.						75	76	75					17																	39619136		2203	4300	6503	SO:0001583	missense	3882	exon6			TCCAGCCGGGCCC	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1163G>A	17.37:g.39619136C>T	ENSP00000225899:p.Arg388Gln	Somatic	100	2		WXS	Illumina GAIIx	Phase_I	156	20	NM_002278	0	0	0	0	0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855185	0.91355	.	.	ENSG00000108759	ENST00000225899	D	0.89552	-2.53	5.07	5.07	0.68467	Filament (1);	0.000000	0.36409	N	0.002614	D	0.94218	0.8144	M	0.86028	2.79	0.37177	D	0.903297	D	0.89917	1.0	D	0.97110	1.0	D	0.95741	0.8783	10	0.72032	D	0.01	.	11.3137	0.49379	0.0:0.9165:0.0:0.0835	.	388	Q14532	K1H2_HUMAN	Q	388	ENSP00000225899:R388Q	ENSP00000225899:R388Q	R	-	2	0	KRT32	36872662	0.996000	0.38824	1.000000	0.80357	0.841000	0.47740	3.382000	0.52463	2.493000	0.84123	0.561000	0.74099	CGG	.		0.632	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		T	39619136	C	T	39619136	3	4	42	1	0	0	0	0	1	0	0	0	8495	652	23	1	191	1	KRT32	17	39619136	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	345067	39619136	41576074	197	9395											
KLHL10	317719	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	39998282	39998282	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgagttcctcaagtcAgagctgtgcttggataattg	12	8	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:39998282A>T	ENST00000293303.4	+	2	555	c.402A>T	c.(400-402)tcA>tcT	p.S134S	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	134					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCCTCAAGTCAGAGCTGTGCT	0.498																																					p.S134S		.											.	KLHL10-227	0			c.A402T						.						124	114	117					17																	39998282		1990	4168	6158	SO:0001819	synonymous_variant	317719	exon2			CAAGTCAGAGCTG	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.402A>T	17.37:g.39998282A>T		Somatic	229	0		WXS	Illumina GAIIx	Phase_I	301	20	NM_152467	0	0	0	0	0	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																			.		0.498	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		T	39998282	A	T	39998282	2	4	42	1	0	0	0	0	0	0	0	1	8393	175	7	5		5	KLHL10	17	39998282	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	379146	39998282	41196928	198	9396											
TBX21	30009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	45821703	45821703	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagttcattgccgtgactgCctaccagaatgccgaggtga	11	12	1	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:45821703C>G	ENST00000177694.1	+	4	1122	c.911C>G	c.(910-912)gCc>gGc	p.A304G		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	304					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCGTGACTGCCTACCAGAAT	0.577																																					p.A304G		.											.	TBX21-90	0			c.C911G						.						72	69	70					17																	45821703		2203	4300	6503	SO:0001583	missense	30009	exon4			TGACTGCCTACCA	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.911C>G	17.37:g.45821703C>G	ENSP00000177694:p.Ala304Gly	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	211	26	NM_013351	0	0	0	0	0		Missense_Mutation	SNP	ENST00000177694.1	37	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006507	0.93287	.	.	ENSG00000073861	ENST00000177694	D	0.93307	-3.2	5.29	5.29	0.74685	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99056	1.0829	10	0.87932	D	0	.	17.7017	0.88296	0.0:1.0:0.0:0.0	.	304	Q9UL17	TBX21_HUMAN	G	304	ENSP00000177694:A304G	ENSP00000177694:A304G	A	+	2	0	TBX21	43176702	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.796000	0.85898	2.465000	0.83290	0.563000	0.77884	GCC	.		0.577	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		G	45821703	C	G	45821703	3	3	42	1	0	0	0	0	1	0	0	0	15704	739	26	3	925	3	TBX21	17	45821703	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	5823421	45821703	35373507	199	9397											
WFIKKN2	124857	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	48916914	48916914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgggaccaagagctgcGtggcggcccgctacatggac	15	11	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:48916914G>A	ENST00000311378.4	+	2	793	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	89	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				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)			CAAGAGCTGCGTGGCGGCCCG	0.582																																					p.V89M		.											.	WFIKKN2-93	0			c.G265A						.						45	46	45					17																	48916914		2203	4300	6503	SO:0001583	missense	124857	exon2			AGCTGCGTGGCGG	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.265G>A	17.37:g.48916914G>A	ENSP00000311184:p.Val89Met	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	270	98	NM_175575	0	0	0	0	0	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345922	0.82022	.	.	ENSG00000173714	ENST00000311378	T	0.73152	-0.72	5.53	5.53	0.82687	Whey acidic protein, 4-disulphide core (5);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86972	0.2098	10	0.72032	D	0.01	.	19.4998	0.95089	0.0:0.0:1.0:0.0	.	89	Q8TEU8	WFKN2_HUMAN	M	89	ENSP00000311184:V89M	ENSP00000311184:V89M	V	+	1	0	WFIKKN2	46271913	1.000000	0.71417	0.952000	0.39060	0.938000	0.57974	9.866000	0.99616	2.593000	0.87608	0.645000	0.84053	GTG	.		0.582	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		A	48916914	G	A	48916914	3	1	42	1	0	0	0	0	1	0	0	0	17408	1145	40	1	271	1	WFIKKN2	17	48916914	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3095211	48916914	32278296	200	9398											
TOM1L1	10040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	52993172	52993172	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgagtgatgtccgccatattGatggagaatactcctgggtc	12	9	0	3			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:52993172G>C	ENST00000575882.1	+	7	1022	c.669G>C	c.(667-669)ttG>ttC	p.L223F	TOM1L1_ENST00000575333.1_Missense_Mutation_p.L223F|TOM1L1_ENST00000540336.1_Missense_Mutation_p.L111F|TOM1L1_ENST00000445275.2_Missense_Mutation_p.L223F|TOM1L1_ENST00000572405.1_Missense_Mutation_p.L188F|TOM1L1_ENST00000572158.1_Missense_Mutation_p.L216F|TOM1L1_ENST00000570371.1_Missense_Mutation_p.L223F|TOM1L1_ENST00000348161.4_Missense_Mutation_p.L146F|TOM1L1_ENST00000536554.1_Missense_Mutation_p.L146F	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	223	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CCGCCATATTGATGGAGAATA	0.428																																					p.L223F		.											.	TOM1L1-91	0			c.G669C						.						207	184	192					17																	52993172		2203	4300	6503	SO:0001583	missense	10040	exon7			CATATTGATGGAG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.669G>C	17.37:g.52993172G>C	ENSP00000460823:p.Leu223Phe	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	161	32	NM_005486	0	0	0	0	0	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892567	0.72524	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.17	4.06	0.47325	GAT (2);	0.000000	0.53938	D	0.000048	T	0.79505	0.4457	M	0.82517	2.595	0.46609	D	0.999124	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;1.0;1.0	T	0.80384	-0.1405	10	0.87932	D	0	-8.5239	6.1904	0.20520	0.3301:0.0:0.6699:0.0	.	111;216;146;223;223;146	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	F	223;111;146;146	ENSP00000408958:L223F;ENSP00000441242:L111F;ENSP00000343901:L146F;ENSP00000443099:L146F	ENSP00000343901:L146F	L	+	3	2	TOM1L1	50348171	0.997000	0.39634	0.980000	0.43619	0.969000	0.65631	0.739000	0.26173	1.529000	0.49120	0.655000	0.94253	TTG	.		0.428	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		C	52993172	G	C	52993172	3	2	42	1	0	0	0	0	1	0	0	0	16399	1281	45	3	695	3	TOM1L1	17	52993172	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	4076258	52993172	28202038	201	9399											
TBX4	9496	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	59560686	59560686	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctcccagtctcaggtcCgagagcgggggcccagcgcc	14	16	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:59560686C>T	ENST00000240335.1	+	8	1492	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Nonsense_Mutation_p.R484*	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	483					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTCTCAGGTCCGAGAGCGGGG	0.617																																					p.R483X		.											.	TBX4-227	0			c.C1447T						.						58	60	59					17																	59560686		2203	4300	6503	SO:0001587	stop_gained	9496	exon8			CAGGTCCGAGAGC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1447C>T	17.37:g.59560686C>T	ENSP00000240335:p.Arg483*	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	173	58	NM_018488	0	0	0	0	0	A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	C	37	6.224765	0.97390	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.34	5.34	0.76211	.	0.588886	0.18962	N	0.126367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0352	0.89298	0.0:1.0:0.0:0.0	.	.	.	.	X	484;483	.	.	R	+	1	2	TBX4	56915468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	2.497000	0.84241	0.655000	0.94253	CGA	.		0.617	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		T	59560686	C	T	59560686	4	4	42	1	0	0	0	0	0	1	0	0	15707	644	23	1	1477	1	TBX4	17	59560686	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	6567514	59560686	21634524	202	9400											
PITPNC1	26207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	65683182	65683182	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttgacctctttcagAtatgacaatggatgatgttc	7	8	3	4			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:65683182A>G	ENST00000581322.1	+	9	682				PITPNC1_ENST00000299954.9_Splice_Site_p.D228G|PITPNC1_ENST00000580974.1_Splice_Site_p.D228G|PITPNC1_ENST00000335257.6_Intron			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CCTCTTTCAGATATGACAATG	0.423																																					p.D228G		.											.	PITPNC1-226	0			c.A683G						.						105	100	101					17																	65683182		1905	4124	6029	SO:0001627	intron_variant	26207	exon9			TTTCAGATATGAC	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.683-5506A>G	17.37:g.65683182A>G		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	138	27	NM_181671	0	0	0	0	0	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.328845	0.41197	.	.	ENSG00000154217	ENST00000299954	T	0.39056	1.1	5.13	5.13	0.70059	.	.	.	.	.	T	0.20659	0.0497	N	0.02708	-0.52	0.80722	D	1	B	0.11235	0.004	B	0.15052	0.012	T	0.10200	-1.0640	8	.	.	.	.	15.2284	0.73369	1.0:0.0:0.0:0.0	.	228	Q9UKF7-2	.	G	228	ENSP00000299954:D228G	.	D	+	2	0	PITPNC1	63113644	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.871000	0.87180	2.046000	0.60703	0.482000	0.46254	GAT	.		0.423	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		G	65683182	A	G	65683182	1	3	42	0	1	0	0	0	0	0	0	0	11988	347	12	4		4	PITPNC1	17	65683182	Intron	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	6122496	65683182	15512028	203	9401											
NPLOC4	55666	ucsc.edu;bcgsc.ca	37	chr17	79577266	79577266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagtgcacgcatttcccCaaagggccgtggcggcatct	12	14	1	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr17:79577266C>T	ENST00000331134.6	-	5	620	c.405G>A	c.(403-405)ttG>ttA	p.L135L	NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000374747.5_Silent_p.L135L|NPLOC4_ENST00000574344.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	135					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)			CGCATTTCCCCAAAGGGCCGT	0.577																																					p.L135L		.											.	NPLOC4-24	0			c.G405A						.						31	34	33					17																	79577266		2084	4205	6289	SO:0001819	synonymous_variant	55666	exon5			TTTCCCCAAAGGG	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.405G>A	17.37:g.79577266C>T		Somatic	352	4		WXS	Illumina GAIIx	Phase_I	422	143	NM_017921	0	0	0	0	0	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	CCDS45812.1																																																																																			.		0.577	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			T	79577266	C	T	79577266	2	4	42	1	0	0	0	0	0	0	0	1	10625	593	21	3		3	NPLOC4	17	79577266	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	13894084	79577266	1617944	204	9402											
C18orf34	374864	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	30926226	30926226	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttccagactgaccaagagtCaattttcatgttaatcatat	5	8	3	3	rs530740303		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr18:30926226C>G	ENST00000383096.3	-	9	789	c.607G>C	c.(607-609)Gac>Cac	p.D203H	CCDC178_ENST00000402325.1_Missense_Mutation_p.D203H|CCDC178_ENST00000583930.1_Missense_Mutation_p.D203H|CCDC178_ENST00000403303.1_Missense_Mutation_p.D203H|CCDC178_ENST00000579947.1_Missense_Mutation_p.D203H|CCDC178_ENST00000406524.2_Missense_Mutation_p.D203H|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.D203H			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	203																	GACCAAGAGTCAATTTTCATG	0.388													C|||	1	0.000199681	0	0.0014	5008	,	,		13814	0		0	False		,,,				2504	0				p.D203H		.											.	.	0			c.G607C						.						115	115	115					18																	30926226		2203	4300	6503	SO:0001583	missense	374864	exon8			AAGAGTCAATTTT	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.607G>C	18.37:g.30926226C>G	ENSP00000372576:p.Asp203His	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	96	9	NM_001105528	0	0	0	0	0	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614116	0.28712	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.60548	1.56;1.56;1.63;1.57;1.62;0.18	5.59	5.59	0.84812	.	.	.	.	.	T	0.72301	0.3443	L	0.55990	1.75	0.38630	D	0.951353	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.97110	1.0;0.971;0.971;0.971	T	0.74562	-0.3624	9	0.54805	T	0.06	-27.7455	16.5129	0.84290	0.0:1.0:0.0:0.0	.	203;203;203;203	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	H	203	ENSP00000385591:D203H;ENSP00000372576:D203H;ENSP00000300227:D203H;ENSP00000385867:D203H;ENSP00000385234:D203H;ENSP00000382130:D203H	ENSP00000300227:D203H	D	-	1	0	C18orf34	29180224	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.659000	0.61504	2.636000	0.89361	0.557000	0.71058	GAC	.		0.388	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		G	30926226	C	G	30926226	3	3	42	1	0	0	0	0	1	0	0	0	1909	826	29	3	2056	3	C18orf34	18	30926226	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		30926226	47151022	205	9403											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	42	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10		929753	58199230	206	9404											
KLF16	83855	hgsc.bcm.edu	37	chr19	1854557	1854557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtactgcgggcaccAgggcgccggagcaggtccgg	21	11	0	0	rs3746045	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:1854557A>G	ENST00000250916.4	-	2	730	c.660T>C	c.(658-660)ccT>ccC	p.P220P	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	220	Pro/Ser-rich.				dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGGCACCAGGGCGCCGGA	0.756													A|||	2119	0.423123	0.6785	0.4611	5008	,	,		10654	0.3829		0.2177	False		,,,				2504	0.3037				p.P220P		.											.	KLF16-90	0			c.T660C						.	A		2319,1817		694,931,443	10	16	14		660	-6.7	0.2	19	dbSNP_107	14	1682,6356		211,1260,2548	no	coding-synonymous	KLF16	NM_031918.3		905,2191,2991	GG,GA,AA		20.9256,43.9313,32.8651		220/253	1854557	4001,8173	2068	4019	6087	SO:0001819	synonymous_variant	83855	exon2			GGCACCAGGGCGC	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.660T>C	19.37:g.1854557A>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_031918	0	0	0	0	0		Silent	SNP	ENST00000250916.4	37	CCDS12075.1																																																																																			A|0.591;G|0.409		0.756	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			G	1854557	A	G	1854557	2	3	42	1	0	0	0	0	0	0	0	1	8371	175	7	4		4	KLF16	19	1854557	Silent	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	924804	1854557	57274426	207	9405											
FAM108A1	81926	broad.mit.edu	37	chr19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-													ccggggcagggcgggcagcaGaagaggcagcagagctcact					rs377128884		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																					p.F13fs		.											.	FAM108A1-90	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.39delC						.						9	13	11					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	81926	exon2			GCAGCAGAAGAGG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	69	7	NM_031213	0	0	0	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	ENST00000292577.7	37	CCDS45902.1																																																																																			.		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		-	1881527	G	-	1881527	7	5	42	1	0	1	0	1	0	0	0	0	5410	933	33	0	1066	0	FAM108A1	19	1881527	Frame_Shift_Del	DEL	G	TCGA-OR-A5L2-01A-11D-A30A-10	26970	1881527	57247456	208	9406	90	2									
FAM108A1	81926	broad.mit.edu	37	chr19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-													ggggcagggcgggcagcagaAgaggcagcagagctcactca							TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																					p.12_13del		.											.	FAM108A1-90	0			c.36_37del						.																																			SO:0001589	frameshift_variant	81926	exon2			AGCAGAAGAGGCA	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	68	7	NM_031213	0	0	0	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	ENST00000292577.7	37	CCDS45902.1																																																																																			.		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		-	1881530	AG	-	1881529	7	5	42	1	0	1	0	1	0	0	0	0	5410	72	3	0	1068	0	FAM108A1	19	1881529	Frame_Shift_Del	DEL	AG	TCGA-OR-A5L2-01A-11D-A30A-10	2	1881529	57247454	209	9407	90	2									
ADAT3	113179	hgsc.bcm.edu	37	chr19	1912251	1912251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccgcgcccgtcctggacAagcgccagacctcacgcctc	10	20	1	1	rs150715312	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:1912251A>G	ENST00000602400.1	+	2	385	c.157A>G	c.(157-159)Aag>Gag	p.K53E	SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.K69E			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	53					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCTGGACAAGCGCCAGAC	0.731													A|||	14	0.00279553	8e-04	0.0072	5008	,	,		11791	0		0.008	False		,,,				2504	0				p.K69E		.											.	ADAT3-154	0			c.A205G						.	A	,GLU/LYS	19,4335		0,19,2158	12	13	13		,157	3.8	0.9	19	dbSNP_134	13	144,8388		0,144,4122	yes	intron,missense	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,56	0,163,6280	GG,GA,AA		1.6878,0.4364,1.2649	,probably-damaging	,53/352	1912251	163,12723	2177	4266	6443	SO:0001583	missense	113179	exon2			CTGGACAAGCGCC	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.157A>G	19.37:g.1912251A>G	ENSP00000473571:p.Lys53Glu	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	64	18	NM_138422	0	0	0	0	0		Missense_Mutation	SNP	ENST00000602400.1	37		9	0.004120879120879121	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	a	15.08	2.726322	0.48833	0.004364	0.016878	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.81	3.79	0.43588	.	0.168491	0.50627	D	0.000108	T	0.41119	0.1145	M	0.69185	2.1	0.41829	D	0.990062	P	0.40970	0.734	B	0.42798	0.398	T	0.52034	-0.8629	9	0.56958	D	0.05	-18.1231	9.6141	0.39681	0.797:0.203:0.0:0.0	.	53	Q96EY9	ADAT3_HUMAN	E	53	.	ENSP00000332448:K53E	K	+	1	0	ADAT3	1863251	1.000000	0.71417	0.864000	0.33941	0.072000	0.16883	2.446000	0.44908	0.712000	0.32039	0.523000	0.50628	AAG	A|0.993;G|0.007		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		G	1912251	A	G	1912251	3	3	42	1	0	0	0	0	1	0	0	0	286	131	5	4	159	4	ADAT3	19	1912251	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	30722	1912251	57216732	210	9408											
DOHH	83475	broad.mit.edu	37	chr19	3496745	3496745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaacagcgcccggaagcggGcctgcaggggctgcttgggg	19	11	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:3496745G>T	ENST00000427575.1	-	2	519	c.68C>A	c.(67-69)gCc>gAc	p.A23D	DOHH_ENST00000250937.3_Missense_Mutation_p.A23D	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAAGCGGGCCTGCAGGGG	0.672																																					p.A23D		.											.	DOHH-90	0			c.C68A						.						30	34	33					19																	3496745		2203	4299	6502	SO:0001583	missense	83475	exon2			AAGCGGGCCTGCA	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.68C>A	19.37:g.3496745G>T	ENSP00000398882:p.Ala23Asp	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	147	12	NM_001145165	0	0	0	0	0		Missense_Mutation	SNP	ENST00000427575.1	37	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	G	6.366	0.435651	0.12104	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	.	.	.	4.28	4.28	0.50868	Armadillo-like helical (1);	0.572614	0.17864	N	0.159432	T	0.30324	0.0761	L	0.45352	1.415	0.26414	N	0.97622	B	0.06786	0.001	B	0.08055	0.003	T	0.16364	-1.0405	9	0.12766	T	0.61	-7.5811	8.1479	0.31124	0.1119:0.0:0.8881:0.0	.	23	Q9BU89	DOHH_HUMAN	D	23	.	ENSP00000250937:A23D	A	-	2	0	DOHH	3447745	0.999000	0.42202	1.000000	0.80357	0.689000	0.40095	4.666000	0.61554	1.947000	0.56498	0.561000	0.74099	GCC	.		0.672	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		T	3496745	G	T	3496745	3	4	42	1	0	0	0	0	1	0	0	0	4709	1203	42	3	856	3	DOHH	19	3496745	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1584494	3496745	55632238	211	9409											
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_019107	0	0	0	0	0	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	42	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1173568	4670313	54458670	212	9410											
TNFSF9	8744	broad.mit.edu	37	chr19	6534816	6534816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgcgctgcacctgcaGccactgcgctctgctgctgg	11	16	2	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:6534816G>T	ENST00000245817.3	+	3	542	c.504G>T	c.(502-504)caG>caT	p.Q168H		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	168					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGCACCTGCAGCCACTGCGCT	0.667																																					p.Q168H		.											.	TNFSF9-227	0			c.G504T						.						22	24	24					19																	6534816		2193	4293	6486	SO:0001583	missense	8744	exon3			CCTGCAGCCACTG	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.504G>T	19.37:g.6534816G>T	ENSP00000245817:p.Gln168His	Somatic	23	1		WXS	Illumina GAIIx	Phase_I	82	8	NM_003811	0	0	0	0	0	Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	15.84	2.953140	0.53293	.	.	ENSG00000125657	ENST00000245817	D	0.94537	-3.45	4.22	3.16	0.36331	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.894418	0.09236	U	0.829901	D	0.94515	0.8234	L	0.51422	1.61	0.09310	N	1	D	0.63046	0.992	P	0.57425	0.82	D	0.86711	0.1936	10	0.52906	T	0.07	-13.2152	7.3277	0.26566	0.1224:0.0:0.8776:0.0	.	168	P41273	TNFL9_HUMAN	H	168	ENSP00000245817:Q168H	ENSP00000245817:Q168H	Q	+	3	2	TNFSF9	6485816	0.003000	0.15002	0.138000	0.22173	0.018000	0.09664	0.539000	0.23175	2.075000	0.62263	0.537000	0.68136	CAG	.		0.667	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		T	6534816	G	T	6534816	3	4	42	1	0	0	0	0	1	0	0	0	16359	962	34	3	514	3	TNFSF9	19	6534816	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	1864503	6534816	52594167	213	9411											
CD209	30835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgccactaaattccgCgcagtcttcctccccaacgt	6	17	1	0	rs200282091		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													c|||	1	0.000199681	8e-04	0	5008	,	,		19290	0		0	False		,,,				2504	0				p.A357T		.											.	CD209-91	0			c.G1069A						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	251	229	236		661,937,793,997,1051,586,1069	3.5	0	19		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	221/269,313/361,265/313,333/381,351/399,196/244,357/405	7808071	1,13005	2203	4300	6503	SO:0001583	missense	30835	exon7			ATTCCGCGCAGTC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1069G>A	19.37:g.7808071C>T	ENSP00000315477:p.Ala357Thr	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	147	44	NM_021155	0	0	0	0	0	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427520	0.43122	0.0	1.16E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.45	3.45	0.39498	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.40815	0.1132	M	0.69463	2.115	0.09310	N	1	B;D;D;D;P;B;D;D;D;P;D	0.69078	0.438;0.997;0.985;0.996;0.93;0.379;0.975;0.957;0.986;0.903;0.96	B;D;B;D;B;B;B;B;P;B;B	0.65573	0.054;0.936;0.351;0.933;0.182;0.024;0.432;0.15;0.556;0.064;0.239	T	0.08391	-1.0724	9	0.66056	D	0.02	.	10.7263	0.46070	0.0:1.0:0.0:0.0	.	357;121;351;313;221;333;265;357;287;333;357	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	357;351;333;313;265;221;121	ENSP00000315477:A357T;ENSP00000346373:A351T;ENSP00000315407:A333T;ENSP00000204801:A313T;ENSP00000301357:A221T;ENSP00000377716:A121T	ENSP00000204801:A313T	A	-	1	0	CD209	7714071	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	2.594000	0.46189	2.221000	0.72209	0.455000	0.32223	GCG	C|0.999;T|0.000		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7808071	C	T	7808071	3	4	42	1	0	0	0	0	1	0	0	0	2991	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1273255	7808071	51320912	214	9412											
HNRNPM	4670	broad.mit.edu	37	chr19	8550869	8550869	+	Frame_Shift_Del	DEL	C	C	-													tctggcgtggagcgcatgggCcctgccatcgagcgcatggg					rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550869delC	ENST00000325495.4	+	14	1598	c.1557delC	c.(1555-1557)ggcfs	p.G519fs	HNRNPM_ENST00000348943.3_Frame_Shift_Del_p.G480fs	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	519	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						AGCGCATGGGCCCTGCCATCG	0.687																																					p.G519fs		.											.	HNRNPM-68	0			c.1557delC						.						47	50	49					19																	8550869		2202	4298	6500	SO:0001589	frameshift_variant	4670	exon14			CATGGGCCCTGCC	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.1557delC	19.37:g.8550869delC	ENSP00000325376:p.Gly519fs	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	168	11	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Frame_Shift_Del	DEL	ENST00000325495.4	37	CCDS12203.1																																																																																			.		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			-	8550869	C	-	8550869	7	5	42	1	0	1	0	1	0	0	0	0	7298	726	26	0	1611	0	HNRNPM	19	8550869	Frame_Shift_Del	DEL	C	TCGA-OR-A5L2-01A-11D-A30A-10	742798	8550869	50578114	215	9413	91	6									
HNRNPM	4670	hgsc.bcm.edu	37	chr19	8550870	8550870	+	Missense_Mutation	SNP	C	C	T													ctggcgtggagcgcatgggcCctgccatcgagcgcatgggc					rs376409485|rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550870C>T	ENST00000325495.4	+	14	1599	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	HNRNPM_ENST00000348943.3_Missense_Mutation_p.P481S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	520	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						GCGCATGGGCCCTGCCATCGA	0.692																																					p.P520S		.											.	HNRNPM-68	0			c.C1558T						.	C	SER/PRO,SER/PRO	0,4404		0,0,2202	47	50	49		1558,1441	4.6	1	19		49	2,8592		0,2,4295	no	missense,missense	HNRNPM	NM_005968.4,NM_031203.3	74,74	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	520/731,481/692	8550870	2,12996	2202	4297	6499	SO:0001583	missense	4670	exon14			ATGGGCCCTGCCA	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.1558C>T	19.37:g.8550870C>T	ENSP00000325376:p.Pro520Ser	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	168	23	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325620	0.24080	0.0	2.33E-4	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.17691	2.26;2.61	5.63	4.57	0.56435	.	0.171248	0.53938	D	0.000049	T	0.04588	0.0125	N	0.01352	-0.895	0.39801	D	0.972579	B;B;B;B	0.13145	0.007;0.0;0.002;0.002	B;B;B;B	0.12156	0.007;0.001;0.004;0.004	T	0.39840	-0.9594	10	0.17832	T	0.49	.	4.2807	0.10831	0.2417:0.583:0.0:0.1753	.	360;520;481;405	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	S	520;481;405;77	ENSP00000325376:P520S;ENSP00000325732:P481S	ENSP00000325376:P520S	P	+	1	0	HNRNPM	8456870	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.371000	0.20450	2.644000	0.89710	0.591000	0.81541	CCT	.		0.692	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			T	8550870	C	T	8550870	3	4	42	1	0	0	0	0	1	0	0	0	7298	623	22	3	1612	3	HNRNPM	19	8550870	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1	8550870	50578113	216	9414	91	6									
HNRNPM	4670	broad.mit.edu	37	chr19	8550873	8550874	+	Frame_Shift_Ins	INS	-	-	A													cgtggagcgcatgggccctgINSccatcgagcgcatgggcctg					rs370937476|rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550873_8550874insA	ENST00000325495.4	+	14	1602_1603	c.1561_1562insA	c.(1561-1563)gccfs	p.A521fs	HNRNPM_ENST00000348943.3_Frame_Shift_Ins_p.A482fs	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	521	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						CATGGGCCCTGCCATCGAGCGC	0.693																																					p.A521fs		.											.	HNRNPM-68	0			c.1561_1562insA						.																																			SO:0001589	frameshift_variant	4670	exon14			GGCCCTGCCATCG	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	Exception_encountered	19.37:g.8550873_8550874insA	ENSP00000325376:p.Ala521fs	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	167	10	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Frame_Shift_Ins	INS	ENST00000325495.4	37	CCDS12203.1																																																																																			.		0.693	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			A	8550874	-	A	8550873	7	5	42	1	0	1	1	0	0	0	0	0	7298	1319	46	0	1615	0	HNRNPM	19	8550873	Frame_Shift_Ins	INS	-	TCGA-OR-A5L2-01A-11D-A30A-10	3	8550873	50578110	217	9415	91	6									
HNRNPM	4670	hgsc.bcm.edu	37	chr19	8550874	8550874	+	Missense_Mutation	SNP	C	C	G													cgtggagcgcatgggccctgCcatcgagcgcatgggcctga					rs370937476|rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550874C>G	ENST00000325495.4	+	14	1603	c.1562C>G	c.(1561-1563)gCc>gGc	p.A521G	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A482G	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	521	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						ATGGGCCCTGCCATCGAGCGC	0.697													C|||	5	0.000998403	0.0015	0	5008	,	,		15677	0		0.003	False		,,,				2504	0				p.A521G		.											.	HNRNPM-68	0			c.C1562G						.	C	GLY/ALA,GLY/ALA	0,4404		0,0,2202	47	50	49		1562,1445	5.4	1	19		49	2,8594		0,2,4296	no	missense,missense	HNRNPM	NM_005968.4,NM_031203.3	60,60	0,2,6498	GG,GC,CC		0.0233,0.0,0.0154	benign,benign	521/731,482/692	8550874	2,12998	2202	4298	6500	SO:0001583	missense	4670	exon14			GCCCTGCCATCGA	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.1562C>G	19.37:g.8550874C>G	ENSP00000325376:p.Ala521Gly	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	167	38	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819643	0.16607	0.0	2.33E-4	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.12879	2.64;2.96	5.43	5.43	0.79202	.	0.148125	0.64402	D	0.000014	T	0.05273	0.0140	N	0.01729	-0.75	0.29766	N	0.835121	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.23797	-1.0178	10	0.13108	T	0.6	.	12.9774	0.58544	0.0:0.7331:0.2668:0.0	.	361;521;482;406	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	G	521;482;406;78	ENSP00000325376:A521G;ENSP00000325732:A482G	ENSP00000325376:A521G	A	+	2	0	HNRNPM	8456874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.052000	0.64263	2.537000	0.85549	0.591000	0.81541	GCC	.		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			G	8550874	C	G	8550874	3	3	42	1	0	0	0	0	1	0	0	0	7298	739	26	3	1616	3	HNRNPM	19	8550874	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1	8550874	50578109	218	9416	91	6									
HNRNPM	4670	hgsc.bcm.edu	37	chr19	8550876	8550876	+	Missense_Mutation	SNP	A	A	G													tggagcgcatgggccctgccAtcgagcgcatgggcctgagc					rs373994547|rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550876A>G	ENST00000325495.4	+	14	1605	c.1564A>G	c.(1564-1566)Atc>Gtc	p.I522V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.I483V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	522	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						GGGCCCTGCCATCGAGCGCAT	0.692																																					p.I522V		.											.	HNRNPM-68	0			c.A1564G						.	A	VAL/ILE,VAL/ILE	0,4404		0,0,2202	48	51	50		1564,1447	5.4	1	19		50	2,8594		0,2,4296	no	missense,missense	HNRNPM	NM_005968.4,NM_031203.3	29,29	0,2,6498	GG,GA,AA		0.0233,0.0,0.0154	benign,benign	522/731,483/692	8550876	2,12998	2202	4298	6500	SO:0001583	missense	4670	exon14			CCTGCCATCGAGC	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.1564A>G	19.37:g.8550876A>G	ENSP00000325376:p.Ile522Val	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	170	24	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184337	0.38609	0.0	2.33E-4	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.14022	2.54;2.87	5.43	5.43	0.79202	.	0.235442	0.49916	D	0.000140	T	0.12475	0.0303	L	0.34521	1.04	0.34455	D	0.701075	B;B;B;B	0.20780	0.048;0.003;0.006;0.011	B;B;B;B	0.19148	0.024;0.005;0.015;0.014	T	0.09707	-1.0662	10	0.39692	T	0.17	.	14.3119	0.66422	1.0:0.0:0.0:0.0	.	362;522;483;407	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	522;483;407;79	ENSP00000325376:I522V;ENSP00000325732:I483V	ENSP00000325376:I522V	I	+	1	0	HNRNPM	8456876	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	2.265000	0.43311	2.053000	0.61076	0.482000	0.46254	ATC	.		0.692	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			G	8550876	A	G	8550876	3	3	42	1	0	0	0	0	1	0	0	0	7298	217	8	4	1618	4	HNRNPM	19	8550876	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	2	8550876	50578107	219	9417	91	6									
HNRNPM	4670	hgsc.bcm.edu	37	chr19	8550878	8550878	+	Missense_Mutation	SNP	C	C	G													gagcgcatgggccctgccatCgagcgcatgggcctgagcat					rs376025950|rs575586653	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:8550878C>G	ENST00000325495.4	+	14	1607	c.1566C>G	c.(1564-1566)atC>atG	p.I522M	HNRNPM_ENST00000348943.3_Missense_Mutation_p.I483M	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	522	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				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						GCCCTGCCATCGAGCGCATGG	0.692													C|||	5	0.000998403	0.0015	0	5008	,	,		15791	0		0.003	False		,,,				2504	0				p.I522M		.											.	HNRNPM-68	0			c.C1566G						.	C	MET/ILE,MET/ILE	0,4404		0,0,2202	48	51	50		1566,1449	-9.6	0.9	19		50	3,8593		0,3,4295	no	missense,missense	HNRNPM	NM_005968.4,NM_031203.3	10,10	0,3,6497	GG,GC,CC		0.0349,0.0,0.0231	benign,benign	522/731,483/692	8550878	3,12997	2202	4298	6500	SO:0001583	missense	4670	exon14			TGCCATCGAGCGC	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.1566C>G	19.37:g.8550878C>G	ENSP00000325376:p.Ile522Met	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	169	40	NM_005968	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	9.451	1.090543	0.20471	0.0	3.49E-4	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.14391	2.51;2.84	5.43	-9.63	0.00544	.	0.235442	0.49916	N	0.000140	T	0.03651	0.0104	N	0.15975	0.35	0.28883	N	0.894307	B;B;B;B	0.16802	0.019;0.001;0.005;0.004	B;B;B;B	0.14578	0.011;0.003;0.01;0.004	T	0.29119	-1.0022	10	0.14252	T	0.57	.	3.2628	0.06854	0.0832:0.2421:0.2641:0.4106	.	362;522;483;407	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	M	522;483;407;79	ENSP00000325376:I522M;ENSP00000325732:I483M	ENSP00000325376:I522M	I	+	3	3	HNRNPM	8456878	0.783000	0.28701	0.915000	0.36163	0.987000	0.75469	-0.325000	0.07976	-1.012000	0.03387	-0.312000	0.09012	ATC	.		0.692	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			G	8550878	C	G	8550878	3	3	42	1	0	0	0	0	1	0	0	0	7298	874	31	2	1620	2	HNRNPM	19	8550878	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2	8550878	50578105	220	9418	91	6									
LPAR2	9170	broad.mit.edu;bcgsc.ca	37	chr19	19737970	19737970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaccagcacgctgaCggtcagccccagtgccacca	10	18	1	1	rs575876718		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:19737970C>T	ENST00000542587.1	-	5	1026	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	LPAR2_ENST00000586703.1_Missense_Mutation_p.V42I|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Missense_Mutation_p.V42I			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	42					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGCACGCTGACGGTCAGCCCC	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		18028	0		0	False		,,,				2504	0				p.V42I		.											.	LPAR2-501	0			c.G124A						.						33	30	31					19																	19737970		2203	4300	6503	SO:0001583	missense	9170	exon2			CGCTGACGGTCAG	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.124G>A	19.37:g.19737970C>T	ENSP00000443256:p.Val42Ile	Somatic	134	2		WXS	Illumina GAIIx	Phase_I	214	15	NM_004720	0	0	0	0	0	O00543|O43431	Missense_Mutation	SNP	ENST00000542587.1	37	CCDS12407.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670619	0.47781	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.35048	1.33;1.33	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.47716	1.5	0.51012	D	0.999903	D	0.55385	0.971	P	0.44732	0.459	T	0.07009	-1.0795	10	0.12103	T	0.63	.	14.5926	0.68378	0.0:1.0:0.0:0.0	.	42	Q9HBW0	LPAR2_HUMAN	I	42	ENSP00000384665:V42I;ENSP00000443256:V42I	ENSP00000384665:V42I	V	-	1	0	LPAR2	19598970	1.000000	0.71417	0.941000	0.38009	0.640000	0.38277	4.533000	0.60615	2.308000	0.77769	0.462000	0.41574	GTC	.		0.597	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		T	19737970	C	T	19737970	3	4	42	1	0	0	0	0	1	0	0	0	8940	536	19	1	939	1	LPAR2	19	19737970	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	11187092	19737970	39391013	221	9419											
LSM14A	26065	broad.mit.edu	37	chr19	34710315	34710315	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggtgctccttcagcTccaaggagagggcgtggggg	17	11	1	1	rs201741862		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:34710315T>G	ENST00000433627.5	+	7	876	c.801T>G	c.(799-801)gcT>gcG	p.A267A	LSM14A_ENST00000540746.2_Silent_p.A226A|LSM14A_ENST00000544216.3_Silent_p.A267A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	267					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A267A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTCCTTCAGCTCCAAGGAGAG	0.438																																					p.A267A		.											.	LSM14A-91	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)	c.T801G						.						64	74	71					19																	34710315		2203	4300	6503	SO:0001819	synonymous_variant	26065	exon7			TTCAGCTCCAAGG	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.801T>G	19.37:g.34710315T>G		Somatic	60	1		WXS	Illumina GAIIx	Phase_I	67	4	NM_001114093	0	0	0	0	0	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																			T|0.999;G|0.001		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		G	34710315	T	G	34710315	2	3	42	1	0	0	0	0	0	0	0	1	9089	1538	54	5		5	LSM14A	19	34710315	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	14972345	34710315	24418668	222	9420											
PRR19	284338	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42814036	42814036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggtgccaggcagcccCacactccccgccaagccctc	8	22	0	0			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:42814036C>T	ENST00000499536.2	+	1	1111	c.300C>T	c.(298-300)ccC>ccT	p.P100P	PRR19_ENST00000598490.1_Silent_p.P100P|PRR19_ENST00000341747.3_Silent_p.P100P			A6NJB7	PRR19_HUMAN	proline rich 19	100										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGGCAGCCCCACACTCCCCG	0.667																																					p.P100P		.											.	PRR19-68	0			c.C300T						.						41	52	49					19																	42814036		2203	4300	6503	SO:0001819	synonymous_variant	284338	exon2			CAGCCCCACACTC	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.300C>T	19.37:g.42814036C>T		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	38	5	NM_199285	0	0	0	0	0	A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	CCDS33036.1																																																																																			.		0.667	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		T	42814036	C	T	42814036	2	4	42	1	0	0	0	0	0	0	0	1	12633	581	21	3		3	PRR19	19	42814036	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	8103721	42814036	16314947	223	9421											
ZNF285	26974	bcgsc.ca	37	chr19	44891010	44891010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaacagagctatacGcaaaatcctttccacacaca	6	11	0	3	rs150792548	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																					p.A466G		.											.	ZNF285-94	1	Substitution - Missense(1)	skin(1)	c.C1397G						.						83	84	83					19																	44891010		2203	4300	6503	SO:0001583	missense	26974	exon4			CTATACGCAAAAT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly	Somatic	147	3		WXS	Illumina GAIIx	Phase_I	178	15	NM_152354	0	0	0	0	0	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG	A|0.000;C|0.002;G|0.998		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44891010	G	C	44891010	3	2	42	1	0	0	0	0	1	0	0	0	17870	1087	38	2	379	2	ZNF285	19	44891010	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2076974	44891010	14237973	224	9422											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	42	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	2236314	47127324	12001659	225	9423											
SLC8A2	6543	hgsc.bcm.edu	37	chr19	47951134	47951134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgccgccgccgcgcgcCgtgccgtccaccgtgcggta	14	19	0	0	rs61748880	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:47951134C>T	ENST00000236877.6	-	4	2090	c.1695G>A	c.(1693-1695)acG>acA	p.T565T	SLC8A2_ENST00000542837.1_Silent_p.T321T|SLC8A2_ENST00000539381.1_Silent_p.T28T|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	565	Calx-beta 2.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGCCGCGCGCCGTGCCGTCCA	0.741													.|||	178	0.0355431	0.1233	0.0216	5008	,	,		12175	0		0	False		,,,				2504	0				p.T565T		.											.	SLC8A2-94	0			c.G1695A						.	C		402,3754		21,360,1697	7	6	6		1695	1.7	1	19	dbSNP_129	6	3,8149		0,3,4073	no	coding-synonymous	SLC8A2	NM_015063.2		21,363,5770	TT,TC,CC		0.0368,9.6728,3.2905		565/922	47951134	405,11903	2078	4076	6154	SO:0001819	synonymous_variant	6543	exon4			GCGCGCCGTGCCG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1695G>A	19.37:g.47951134C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015063	0	0	0	0	0	B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																			C|0.964;T|0.036		0.741	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47951134	C	T	47951134	2	4	42	1	0	0	0	0	0	0	0	1	14752	639	23	1		1	SLC8A2	19	47951134	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	823810	47951134	11177849	226	9424											
FAM83E	54854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	49104471	49104471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgaaccgccttcgggcTggggacagatagcggaggcg	16	13	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:49104471T>C	ENST00000263266.3	-	5	1521	c.1332A>G	c.(1330-1332)ccA>ccG	p.P444P		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	444										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCCTTCGGGCTGGGGACAGAT	0.711																																					p.P444P		.											.	FAM83E-91	0			c.A1332G						.						15	16	16					19																	49104471		1833	4074	5907	SO:0001819	synonymous_variant	54854	exon5			TCGGGCTGGGGAC	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1332A>G	19.37:g.49104471T>C		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	71	6	NM_017708	0	0	0	0	0	Q9NXK1	Silent	SNP	ENST00000263266.3	37	CCDS42587.1																																																																																			.		0.711	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		C	49104471	T	C	49104471	2	2	42	1	0	0	0	0	0	0	0	1	5659	1567	55	4		4	FAM83E	19	49104471	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	1153337	49104471	10024512	227	9425											
KLK11	11012	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	51527336	51527336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccccagccggaaatgAggcagctggtgccagcagtg	15	12	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:51527336A>G	ENST00000594768.1	-	4	709	c.524T>C	c.(523-525)cTc>cCc	p.L175P	KLK11_ENST00000391804.3_Missense_Mutation_p.L168P|KLK11_ENST00000319720.7_Missense_Mutation_p.L143P|KLK11_ENST00000453757.3_Missense_Mutation_p.L143P|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GCCGGAAATGAGGCAGCTGGT	0.632																																					p.L175P		.											.	KLK11-650	0			c.T524C						.						44	28	33					19																	51527336		2203	4300	6503	SO:0001583	missense	11012	exon4			GAAATGAGGCAGC	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.524T>C	19.37:g.51527336A>G	ENSP00000473047:p.Leu175Pro	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	111	14	NM_144947	0	0	0	0	0	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	a	15.96	2.985907	0.53934	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.93488	-3.23;-3.23;-3.23	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36002	N	0.002857	D	0.95971	0.8688	M	0.78801	2.425	0.51767	D	0.999939	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.979	D	0.96114	0.9079	10	0.72032	D	0.01	.	11.6635	0.51361	1.0:0.0:0.0:0.0	.	175;168	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	P	168;143;143;175	ENSP00000375680:L168P;ENSP00000324269:L143P;ENSP00000413958:L143P	ENSP00000324269:L143P	L	-	2	0	KLK11	56219148	0.001000	0.12720	1.000000	0.80357	0.963000	0.63663	0.237000	0.17985	1.846000	0.53633	0.379000	0.24179	CTC	.		0.632	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		G	51527336	A	G	51527336	3	3	42	1	0	0	0	0	1	0	0	0	8426	304	11	4	336	4	KLK11	19	51527336	Missense_Mutation	SNP	A	TCGA-OR-A5L2-01A-11D-A30A-10	2422865	51527336	7601647	228	9426											
FPR1	2357	broad.mit.edu	37	chr19	52249450	52249450	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcaataactcacggattctGactgtggctataagggccac	10	10	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:52249450G>C	ENST00000595042.1	-	3	939	c.798C>G	c.(796-798)gtC>gtG	p.V266V	FPR1_ENST00000304748.4_Silent_p.V266V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	266					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)	CACGGATTCTGACTGTGGCTA	0.507																																					p.V266V		.											.	FPR1-524	0			c.C798G						.						89	72	78					19																	52249450		2203	4300	6503	SO:0001819	synonymous_variant	2357	exon3			GATTCTGACTGTG	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.798C>G	19.37:g.52249450G>C		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	129	3	NM_001193306	0	0	0	0	0	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	CCDS12839.1																																																																																			.		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		C	52249450	G	C	52249450	2	2	42	1	0	0	0	0	0	0	0	1	6062	1277	45	3		3	FPR1	19	52249450	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	722114	52249450	6879533	229	9427											
NLRP4	147945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	56369429	56369429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagagatcgtgtctcaaccgGagagactcttgttcgtcatc	10	11	3	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:56369429G>T	ENST00000301295.6	+	3	1092	c.670G>T	c.(670-672)Gag>Tag	p.E224*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E149*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E224*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	224	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTCTCAACCGGAGAGACTCTT	0.552																																					p.E224X		.											.	NLRP4-216	0			c.G670T						.						81	80	80					19																	56369429		2203	4300	6503	SO:0001587	stop_gained	147945	exon3			CAACCGGAGAGAC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.670G>T	19.37:g.56369429G>T	ENSP00000301295:p.Glu224*	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	102	14	NM_134444	0	0	0	0	0	Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.258394	0.97421	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.1	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.9098	0.52733	0.0:0.1772:0.8228:0.0	.	.	.	.	X	224	.	ENSP00000301295:E224X	E	+	1	0	NLRP4	61061241	0.750000	0.28316	0.283000	0.24790	0.091000	0.18340	0.957000	0.29215	1.059000	0.40554	0.655000	0.94253	GAG	.		0.552	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369429	G	T	56369429	4	4	42	1	0	0	0	0	0	1	0	0	10518	1175	41	3	676	3	NLRP4	19	56369429	Nonsense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	4119979	56369429	2759554	230	9428											
ZNF835	90485	broad.mit.edu	37	chr19	57176051	57176051	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccctggctgaaggccttGccgcactcgtggcaggcgta	15	13	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:57176051G>T	ENST00000537055.2	-	2	747	c.516C>A	c.(514-516)ggC>ggA	p.G172G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGAAGGCCTTGCCGCACTCGT	0.716																																					p.G172G		.											.	ZNF835-72	0			c.C516A						.						21	23	22					19																	57176051		2201	4297	6498	SO:0001819	synonymous_variant	90485	exon2			GGCCTTGCCGCAC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.516C>A	19.37:g.57176051G>T		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	68	5	NM_001005850	0	0	0	0	0	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																			.		0.716	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		T	57176051	G	T	57176051	2	4	42	1	0	0	0	0	0	0	0	1	18234	1306	46	3		3	ZNF835	19	57176051	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	806622	57176051	1952932	231	9429											
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	57327088	57327088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagatccctctccaggaaCacttttctgaggtttggcac	8	13	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr19:57327088C>A	ENST00000326441.9	-	10	3085	c.2722G>T	c.(2722-2724)Gtt>Ttt	p.V908F	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.V784F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.V908F|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.V782F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	908					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTCCAGGAACACTTTTCTGA	0.463																																					p.V908F		.											.	PEG3-164	0			c.G2722T						.						105	105	105					19																	57327088		2203	4300	6503	SO:0001583	missense	5178	exon9			CAGGAACACTTTT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2722G>T	19.37:g.57327088C>A	ENSP00000326581:p.Val908Phe	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	69	5	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.718	0.501162	0.12822	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02552	4.25;4.25	4.55	-0.178	0.13303	.	1.179490	0.06331	N	0.706182	T	0.02418	0.0074	L	0.29908	0.895	.	.	.	B;B;P	0.39282	0.148;0.363;0.666	B;B;B	0.27500	0.023;0.034;0.08	T	0.48091	-0.9065	9	0.41790	T	0.15	-2.6124	10.3625	0.44003	0.0785:0.3948:0.5267:0.0	.	784;908;843	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	908	ENSP00000326581:V908F;ENSP00000403051:V908F	ENSP00000326581:V908F	V	-	1	0	ZIM2	62018900	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.343000	0.19944	0.235000	0.21160	-0.165000	0.13383	GTT	.		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57327088	C	A	57327088	3	1	42	1	0	0	0	0	1	0	0	0	11759	478	17	3	2048	3	PEG3	19	57327088	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	151037	57327088	1801895	232	9430											
CDS2	8760	ucsc.edu;bcgsc.ca	37	chr20	5170814	5170814	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagatcagcagctccacatCttcaacacgctgcggtctca	7	16	4	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr20:5170814C>T	ENST00000460006.1	+	13	1579	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.I304I|CDS2_ENST00000535100.1_Silent_p.I194I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	424					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGCTCCACATCTTCAACACGC	0.532																																					p.I424I		.											.	CDS2-226	0			c.C1272T						.						85	70	75					20																	5170814		2203	4300	6503	SO:0001819	synonymous_variant	8760	exon13			CCACATCTTCAAC	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1272C>T	20.37:g.5170814C>T		Somatic	304	3		WXS	Illumina GAIIx	Phase_I	331	57	NM_003818	0	0	0	0	0	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	CCDS13088.1																																																																																			.		0.532	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			T	5170814	C	T	5170814	2	4	42	1	0	0	0	0	0	0	0	1	3185	903	32	3		3	CDS2	20	5170814	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10		5170814	57854706	233	9431											
INSM1	3642	hgsc.bcm.edu	37	chr20	20350152	20350152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggccttgtaccccgggcCcgacgagaaggcgccccagg	14	16	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr20:20350152C>T	ENST00000310227.1	+	1	1388	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	414					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TACCCCGGGCCCGACGAGAAG	0.751																																					p.P414L		.											.	INSM1-91	0			c.C1241T						.						3	5	4					20																	20350152		1644	3538	5182	SO:0001583	missense	3642	exon1			CCGGGCCCGACGA		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1241C>T	20.37:g.20350152C>T	ENSP00000312631:p.Pro414Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_002196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310227.1	37	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215671	0.39102	.	.	ENSG00000173404	ENST00000310227	T	0.00816	5.66	3.81	3.81	0.43845	.	0.412070	0.17940	U	0.156870	T	0.01222	0.0040	N	0.19112	0.55	0.39337	D	0.965517	P	0.51791	0.948	P	0.48189	0.57	T	0.81428	-0.0937	10	0.31617	T	0.26	-5.9449	13.5348	0.61641	0.0:1.0:0.0:0.0	.	414	Q01101	INSM1_HUMAN	L	414	ENSP00000312631:P414L	ENSP00000312631:P414L	P	+	2	0	INSM1	20298152	0.000000	0.05858	0.999000	0.59377	0.726000	0.41606	0.088000	0.14979	2.110000	0.64415	0.455000	0.32223	CCC	.		0.751	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		T	20350152	C	T	20350152	3	4	42	1	0	0	0	0	1	0	0	0	7798	623	22	3	1243	3	INSM1	20	20350152	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	15179338	20350152	42675368	234	9432											
WFDC8	90199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	44184408	44184408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcattcccttcgcagcccCtgtatttgaagggtgtgcag	12	11	0	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr20:44184408C>T	ENST00000357199.4	-	4	455	c.377G>A	c.(376-378)aGg>aAg	p.R126K	WFDC8_ENST00000289953.2_Missense_Mutation_p.R126K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	126	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTCGCAGCCCCTGTATTTGAA	0.483																																					p.R126K		.											.	WFDC8-90	0			c.G377A						.						126	110	116					20																	44184408		2203	4300	6503	SO:0001583	missense	90199	exon4			CAGCCCCTGTATT	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.377G>A	20.37:g.44184408C>T	ENSP00000361735:p.Arg126Lys	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	94	11	NM_181510	0	0	0	0	0	E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	1.100	-0.661472	0.03454	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.57107	0.42;0.42	4.26	-2.74	0.05932	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.539290	0.03462	N	0.212366	T	0.35128	0.0921	N	0.25201	0.72	0.09310	N	1	B	0.28470	0.213	B	0.28784	0.094	T	0.12578	-1.0542	10	0.25751	T	0.34	.	5.4418	0.16513	0.0:0.287:0.4393:0.2737	.	126	Q8IUA0	WFDC8_HUMAN	K	126	ENSP00000361735:R126K;ENSP00000289953:R126K	ENSP00000289953:R126K	R	-	2	0	WFDC8	43617822	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.856000	0.04290	-0.471000	0.06891	-0.140000	0.14226	AGG	.		0.483	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			T	44184408	C	T	44184408	3	4	42	1	0	0	0	0	1	0	0	0	17405	681	24	3	360	3	WFDC8	20	44184408	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	23834256	44184408	18841112	235	9433											
ARFRP1	10139	bcgsc.ca	37	chr20	62333492	62333492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccgcactcaccaaaCgcctgcttggactcagccag	10	17	2	0	rs112359854		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr20:62333492C>T	ENST00000359715.5	-	4	908	c.342G>A	c.(340-342)gcG>gcA	p.A114A	ARFRP1_ENST00000607873.1_Silent_p.A67A|ARFRP1_ENST00000440854.1_Silent_p.A114A|ARFRP1_ENST00000324228.2_Silent_p.A114A|ARFRP1_ENST00000609142.1_Silent_p.A114A|ARFRP1_ENST00000485858.1_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	114					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ACTCACCAAACGCCTGCTTGG	0.617													C|||	1	0.000199681	0	0	5008	,	,		16170	0		0	False		,,,				2504	0.001				p.A114A		.											.	ARFRP1-291	0			c.G342A						.						90	75	80					20																	62333492		2203	4296	6499	SO:0001819	synonymous_variant	10139	exon5			ACCAAACGCCTGC	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"ADP-ribosylation factors"	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.342G>A	20.37:g.62333492C>T		Somatic	38	1		WXS	Illumina GAIIx	Phase_I	63	22	NM_001134758	0	0	0	0	0	B7ZKX7|E1P5J9|Q6IBQ0	Silent	SNP	ENST00000359715.5	37	CCDS13533.1																																																																																			.		0.617	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			T	62333492	C	T	62333492	2	4	42	1	0	0	0	0	0	0	0	1	856	523	19	1		1	ARFRP1	20	62333492	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	18149084	62333492	692028	236	9434											
SON	6651	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	34924819	34924819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaccggtctatgatgtcGtcatactctgctgctgaccg	11	12	3	3	rs536204949		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr21:34924819G>A	ENST00000356577.4	+	3	3757	c.3282G>A	c.(3280-3282)tcG>tcA	p.S1094S	SON_ENST00000290239.6_Silent_p.S1094S|SON_ENST00000300278.4_Silent_p.S1094S|SON_ENST00000381679.4_Silent_p.S1094S|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1094	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTATGATGTCGTCATACTCTG	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		22222	0		0	False		,,,				2504	0				p.S1094S		.											.	SON-97	0			c.G3282A						.						188	149	162					21																	34924819		2203	4300	6503	SO:0001819	synonymous_variant	6651	exon3			GATGTCGTCATAC	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.3282G>A	21.37:g.34924819G>A		Somatic	263	1		WXS	Illumina GAIIx	Phase_I	324	72	NM_032195	0	0	0	0	0	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	2.036	-0.421225	0.04734	.	.	ENSG00000159140	ENST00000436227	.	.	.	6.06	-8.95	0.00765	.	.	.	.	.	T	0.49440	0.1557	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	T	0.58025	-0.7709	4	.	.	.	.	9.8284	0.40925	0.6522:0.0:0.1801:0.1677	.	.	.	.	H	89	.	.	R	+	2	0	SON	33846689	0.010000	0.17322	0.276000	0.24689	0.987000	0.75469	-2.240000	0.01197	-1.696000	0.01421	-0.784000	0.03344	CGT	.		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34924819	G	A	34924819	2	1	42	1	0	0	0	0	0	0	0	1	14971	1132	40	1		1	SON	21	34924819	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		34924819	13205076	237	9435											
KRTAP10-10	353333	ucsc.edu	37	chr21	46057625	46057625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcctgctgtgtgccTgtctgctgtgtgcccgtctg	14	13	2	0	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																					p.P97P		.											.	KRTAP10-10-90	0			c.T291C						.						82	79	80					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333	exon1			TGTGCCTGTCTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	141	13	NM_181688	0	0	0	0	0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|1.000;|0.000		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057625	T	C	46057625	2	2	42	1	0	0	0	0	0	0	0	1	8533	1567	55	4		4	KRTAP10-10	21	46057625	Silent	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	11132806	46057625	2072270	238	9436											
PRODH	5625	hgsc.bcm.edu	37	chr22	18923745	18923745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccggcgccgtggacagcGggacgaagcggggaatgcag	20	10	0	0	rs2008720	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:18923745G>T	ENST00000357068.6	-	1	321	c.56C>A	c.(55-57)cCg>cAg	p.P19Q	PRODH_ENST00000420436.1_5'UTR|PRODH_ENST00000334029.2_Intron	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	19			Q -> P (moderate reduction of enzymatic activity; dbSNP:rs2008720).		4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CGTGGACAGCGGGACGAAGCG	0.786													.|||	2771	0.553315	0.3964	0.4899	5008	,	,		6337	0.8423		0.4463	False		,,,				2504	0.6227				p.P19Q		.											.	PRODH-289	0			c.C56A	GRCh37	CM057552	PRODH	M	rs2008720	.						1	3	2					22																	18923745		714	1559	2273	SO:0001583	missense	5625	exon2			GACAGCGGGACGA	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.56C>A	22.37:g.18923745G>T	ENSP00000349577:p.Pro19Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_016335	0	0	0	0	0	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	1178	0.5393772893772893	199	0.40447154471544716	168	0.46408839779005523	473	0.8269230769230769	338	0.44591029023746703	.	10.99	1.507449	0.27036	.	.	ENSG00000100033	ENST00000357068;ENST00000457083	T	0.16897	2.31	2.4	-0.024	0.13941	.	0.382844	0.18568	U	0.137421	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.05468	-1.0883	6	0.30854	T	0.27	-2.6546	8.2534	0.31739	0.0:0.4816:0.5184:0.0	rs2008720;rs3815656;rs2008720	.	.	.	Q	19;12	ENSP00000349577:P19Q	ENSP00000349577:P19Q	P	-	2	0	PRODH	17303745	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.431000	0.06965	-0.043000	0.13513	-1.043000	0.02367	CCG	G|0.457;T|0.543		0.786	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		T	18923745	G	T	18923745	3	4	42	1	0	0	0	0	1	0	0	0	12590	1116	39	2	1802	2	PRODH	22	18923745	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		18923745	32380821	239	9437											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc	19	15	0	0	rs759610		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	42	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	1856346	20780091	30524475	240	9438											
CHEK2	11200	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	29121006	29121006	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaatttcagaattgttaTtcaaaggacggcgttttcct	9	7	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:29121006T>A	ENST00000405598.1	-	5	742	c.551A>T	c.(550-552)aAt>aTt	p.N184I	CHEK2_ENST00000402731.1_Missense_Mutation_p.N184I|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.N184I|CHEK2_ENST00000382580.2_Missense_Mutation_p.N227I|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N184I|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.N184I|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.N184I			O96017	CHK2_HUMAN	checkpoint kinase 2	184					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						AGAATTGTTATTCAAAGGACG	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.N227I		.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2-1515	0			c.A680T						.						86	84	85					22																	29121006		2203	4299	6502	SO:0001583	missense	11200	exon5			TTGTTATTCAAAG	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.551A>T	22.37:g.29121006T>A	ENSP00000386087:p.Asn184Ile	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	222	15	NM_001005735	0	0	0	0	0	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	14.53	2.563427	0.45694	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.87	-0.532	0.11890	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.549225	0.22047	N	0.065378	T	0.81384	0.4811	L	0.45470	1.425	0.22903	N	0.998589	B;P;P;B;B	0.37423	0.074;0.594;0.478;0.091;0.402	B;B;B;B;B	0.40038	0.317;0.124;0.05;0.158;0.196	T	0.71873	-0.4461	10	0.44086	T	0.13	-19.4855	8.771	0.34733	0.0:0.5612:0.2309:0.2079	.	184;184;184;184;227	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	I	184;184;184;184;184;227;184;215	ENSP00000329012:N184I;ENSP00000372007:N184I;ENSP00000329178:N184I;ENSP00000385747:N184I;ENSP00000386087:N184I;ENSP00000372023:N227I;ENSP00000384835:N184I;ENSP00000408065:N215I	ENSP00000329178:N184I	N	-	2	0	CHEK2	27451006	0.333000	0.24731	0.996000	0.52242	0.306000	0.27790	-0.532000	0.06164	-0.045000	0.13468	0.477000	0.44152	AAT	.		0.353	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		A	29121006	T	A	29121006	3	1	42	1	0	0	0	0	1	0	0	0	3342	1493	52	5	1128	5	CHEK2	22	29121006	Missense_Mutation	SNP	T	TCGA-OR-A5L2-01A-11D-A30A-10	8340915	29121006	22183560	241	9439											
C22orf31	25770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	29454817	29454817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgccagggaaccggtccctCtgagcaccttcagagatggc	12	14	2	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:29454817C>G	ENST00000216071.4	-	3	837	c.786G>C	c.(784-786)caG>caC	p.Q262H		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	262										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACCGGTCCCTCTGAGCACCTT	0.542																																					p.Q262H		.											.	C22orf31-90	0			c.G786C						.						100	92	95					22																	29454817		2203	4300	6503	SO:0001583	missense	25770	exon3			GTCCCTCTGAGCA	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.786G>C	22.37:g.29454817C>G	ENSP00000216071:p.Gln262His	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	112	17	NM_015370	0	0	0	0	0	A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708799	0.48517	.	.	ENSG00000100249	ENST00000216071	T	0.35605	1.3	5.65	1.14	0.20703	.	0.461817	0.18895	N	0.128208	T	0.21186	0.0510	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.17433	0.018	T	0.16129	-1.0413	10	0.66056	D	0.02	-1.98	4.5134	0.11923	0.0:0.5671:0.1604:0.2725	.	262	O95567	CV031_HUMAN	H	262	ENSP00000216071:Q262H	ENSP00000216071:Q262H	Q	-	3	2	C22orf31	27784817	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.150000	0.16263	0.142000	0.18901	0.655000	0.94253	CAG	.		0.542	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		G	29454817	C	G	29454817	3	3	42	1	0	0	0	0	1	0	0	0	2150	912	32	3	90	3	C22orf31	22	29454817	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	333811	29454817	21849749	242	9440											
RHBDD3	25807	broad.mit.edu	37	chr22	29661518	29661519	+	Frame_Shift_Ins	INS	-	-	C													caggaccaggccggggccggINScccccaccagccacagggtg					rs150836859|rs78465643		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:29661518_29661519insC	ENST00000216085.7	-	3	521_522	c.97_98insG	c.(97-99)gccfs	p.A33fs	EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000397938.2_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000331029.7_5'Flank|EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000332035.6_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	33					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						GCCGGGGCCGGCCCCCACCAGC	0.683																																					p.A33fs		.											.	RHBDD3-91	0			c.98_99insG						.																																			SO:0001589	frameshift_variant	25807	exon3			GGGCCGGCCCCCA	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.98dupG	22.37:g.29661523_29661523dupC	ENSP00000216085:p.Ala33fs	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	290	11	NM_012265	0	0	0	0	0	Q6I9X3|Q9UGQ7	Frame_Shift_Ins	INS	ENST00000216085.7	37	CCDS13850.1																																																																																			.		0.683	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		C	29661519	-	C	29661518	7	5	42	1	0	1	1	0	0	0	0	0	13363	1203	42	0	1082	0	RHBDD3	22	29661518	Frame_Shift_Ins	INS	-	TCGA-OR-A5L2-01A-11D-A30A-10	206701	29661518	21643048	243	9441											
CSF2RB	1439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	37333549	37333549	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctacccacagagcagcccCccagcccccagccaggcccg	8	22	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:37333549C>G	ENST00000403662.3	+	14	1921	c.1699C>G	c.(1699-1701)Ccc>Gcc	p.P567A	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P573A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P573A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P514A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGAGCAGCCCCCCAGCCCCCA	0.642																																					p.P567A		.											.	CSF2RB-93	0			c.C1699G						.						27	29	28					22																	37333549		2203	4300	6503	SO:0001583	missense	1439	exon14			CAGCCCCCCAGCC	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1699C>G	22.37:g.37333549C>G	ENSP00000384053:p.Pro567Ala	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	65	7	NM_000395	0	0	0	0	0	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	6.141	0.394186	0.11638	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91792	-2.4;-2.91;-2.91;-2.91	5.36	-8.53	0.00916	.	3.248190	0.00903	N	0.002373	D	0.83390	0.5244	L	0.60455	1.87	0.09310	N	1	B;P	0.35612	0.005;0.512	B;B	0.32677	0.012;0.15	T	0.75190	-0.3405	10	0.06365	T	0.9	-1.4315	0.6175	0.00772	0.1963:0.2523:0.1942:0.3572	.	573;567	P32927-2;P32927	.;IL3RB_HUMAN	A	567;567;573;573;514	ENSP00000384053:P567A;ENSP00000262825:P573A;ENSP00000385271:P573A;ENSP00000440003:P514A	ENSP00000262825:P573A	P	+	1	0	CSF2RB	35663495	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-1.768000	0.01794	-0.950000	0.03659	-0.259000	0.10710	CCC	.		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		G	37333549	C	G	37333549	3	3	42	1	0	0	0	0	1	0	0	0	3944	623	22	3	1749	3	CSF2RB	22	37333549	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	7672031	37333549	13971017	244	9442											
CACNA1I	8911	broad.mit.edu	37	chr22	40066230	40066230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctggagaagaagcGccggagtgagtgggtgcctg	20	9	0	3	rs373284314		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:40066230G>A	ENST00000402142.3	+	25	4382	c.4382G>A	c.(4381-4383)cGc>cAc	p.R1461H	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1426H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1461H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1426H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1426H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1467H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1461					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)	GAGAAGAAGCGCCGGAGTGAG	0.672																																					p.R1461H		.											.	CACNA1I-135	0			c.G4382A						.	G	HIS/ARG,HIS/ARG	0,4130		0,0,2065	46	49	48		4277,4382	4	1	22		48	1,8373		0,1,4186	no	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	29,29	0,1,6251	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1426/2189,1461/2224	40066230	1,12503	2065	4187	6252	SO:0001583	missense	8911	exon25			AGAAGCGCCGGAG	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.4382G>A	22.37:g.40066230G>A	ENSP00000385019:p.Arg1461His	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	66	15	NM_021096	0	0	0	0	0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899094	0.91962	0.0	1.19E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97352	-4.33;-4.29;-4.31;-4.27;-4.35;-4.26	3.95	3.95	0.45737	.	0.072042	0.50627	D	0.000117	D	0.98365	0.9457	M	0.82323	2.585	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;D;D	0.85130	0.994;0.866;0.997;0.992	D	0.99478	1.0947	10	0.66056	D	0.02	.	16.3466	0.83134	0.0:0.0:1.0:0.0	.	1426;1461;1426;1461	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1461;1426;1461;1426;1467;1426	ENSP00000385019:R1461H;ENSP00000384093:R1426H;ENSP00000383887:R1461H;ENSP00000385680:R1426H;ENSP00000337829:R1467H;ENSP00000383028:R1426H	ENSP00000337829:R1467H	R	+	2	0	CACNA1I	38396176	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.673000	0.98631	1.910000	0.55303	0.555000	0.69702	CGC	.		0.672	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		A	40066230	G	A	40066230	3	1	42	1	0	0	0	0	1	0	0	0	2553	1087	38	1	4480	1	CACNA1I	22	40066230	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2732681	40066230	11238336	245	9443											
ENTHD1	150350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	40140106	40140106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcaaaggagtgatgcaGcttggctgtcttatcttcat	11	7	3	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:40140106G>A	ENST00000325157.6	-	7	1652	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	468										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAGTGATGCAGCTTGGCTGTC	0.448																																					p.L468L		.											.	ENTHD1-93	0			c.C1402T						.						74	76	75					22																	40140106		2203	4300	6503	SO:0001819	synonymous_variant	150350	exon7			GATGCAGCTTGGC	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1402C>T	22.37:g.40140106G>A		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	155	25	NM_152512	0	0	0	0	0	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																			.		0.448	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40140106	G	A	40140106	2	1	42	1	0	0	0	0	0	0	0	1	5153	962	34	3		3	ENTHD1	22	40140106	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	73876	40140106	11164460	246	9444											
RRP7A	27341	bcgsc.ca	37	chr22	42912029	42912029	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctcaccggaactggcttGggatgaaaaaacttcgacct	11	11	1	1	rs3201001	byFrequency	TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chr22:42912029G>T	ENST00000323013.6	-	3	345	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	110							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GAACTGGCTTGGGATGAAAAA	0.617													G|||	1175	0.234625	0.3896	0.1239	5008	,	,		19193	0.1468		0.1978	False		,,,				2504	0.2321				p.P110P		.											.	RRP7A-91	0			c.C330A						.	G		1568,2838	482.8+/-359.5	275,1018,910	62	51	55		330	0.6	0	22	dbSNP_105	55	1832,6768	324.6+/-316.5	173,1486,2641	no	coding-synonymous	RRP7A	NM_015703.4		448,2504,3551	TT,TG,GG		21.3023,35.5878,26.1418		110/281	42912029	3400,9606	2203	4300	6503	SO:0001819	synonymous_variant	27341	exon3			TGGCTTGGGATGA	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.330C>A	22.37:g.42912029G>T		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	172	8	NM_015703	0	0	0	0	0	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																			G|0.748;T|0.252		0.617	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		T	42912029	G	T	42912029	2	4	42	1	0	0	0	0	0	0	0	1	13734	1335	47	3		3	RRP7A	22	42912029	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2771923	42912029	8392537	247	9445											
MAGEB4	4115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30261199	30261199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaagaagagagagctgGagcccggcccagagttgcag	16	8	0	6			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:30261199G>A	ENST00000378982.2	+	1	1143	c.947G>A	c.(946-948)gGa>gAa	p.G316E	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	316										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAGAGAGCTGGAGCCCGGCCC	0.522																																					p.G316E		.											.	MAGEB4-131	0			c.G947A						.						49	47	48					X																	30261199		2202	4300	6502	SO:0001583	missense	4115	exon1			GAGCTGGAGCCCG		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.947G>A	X.37:g.30261199G>A	ENSP00000368266:p.Gly316Glu	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	60	19	NM_002367	0	0	0	0	0	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	4.406	0.075076	0.08485	.	.	ENSG00000120289	ENST00000378982	T	0.01505	4.82	2.95	-5.04	0.02964	.	5.381380	0.01980	U	0.044714	T	0.01765	0.0056	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43032	-0.9416	10	0.40728	T	0.16	.	6.6083	0.22737	0.6098:0.1386:0.2516:0.0	.	316	O15481	MAGB4_HUMAN	E	316	ENSP00000368266:G316E	ENSP00000368266:G316E	G	+	2	0	MAGEB4	30171120	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.255000	0.01182	-1.897000	0.01101	-0.190000	0.12839	GGA	.		0.522	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		A	30261199	G	A	30261199	3	1	42	1	0	0	0	0	1	0	0	0	9216	1174	41	3	949	3	MAGEB4	23	30261199	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10		30261199	125009361	248	9446											
FAM47A	158724	bcgsc.ca	37	chrX	34148842	34148842	+	Silent	SNP	G	G	A													cgagtcttgggaggctccgaGcggagactggacgtccgacg							TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:34148842G>A	ENST00000346193.3	-	1	1605	c.1554C>T	c.(1552-1554)cgC>cgT	p.R518R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	518										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGGCTCCGAGCGGAGACTGG	0.657																																					p.R518R		.											.	FAM47A-134	0			c.C1554T						.						27	27	27					X																	34148842		2185	4270	6455	SO:0001819	synonymous_variant	158724	exon1			CTCCGAGCGGAGA	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1554C>T	X.37:g.34148842G>A		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	103	10	NM_203408	0	0	0	0	0	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																			.		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		A	34148842	G	A	34148842	2	1	42	1	0	0	0	0	0	0	0	1	5591	958	34	3		3	FAM47A	23	34148842	Silent	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	3887643	34148842	121121718	249	9447	92	2									
FAM47A	158724	bcgsc.ca	37	chrX	34148844	34148844	+	Missense_Mutation	SNP	G	G	C													agtcttgggaggctccgagcGgagactggacgtccgacgag					rs17855514		TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:34148844G>C	ENST00000346193.3	-	1	1603	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	518										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGAGCGGAGACTGGAC	0.657																																					p.R518G		.											.	FAM47A-134	0			c.C1552G						.						27	27	27					X																	34148844		2183	4264	6447	SO:0001583	missense	158724	exon1			CCGAGCGGAGACT	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1552C>G	X.37:g.34148844G>C	ENSP00000345029:p.Arg518Gly	Somatic	101	3		WXS	Illumina GAIIx	Phase_I	107	13	NM_203408	0	0	0	0	0	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	4.430	0.079632	0.08533	.	.	ENSG00000185448	ENST00000346193	T	0.13778	2.56	0.494	0.494	0.16884	.	.	.	.	.	T	0.10895	0.0266	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	8	0.14656	T	0.56	.	.	.	.	rs17855514	518	Q5JRC9	FA47A_HUMAN	G	518	ENSP00000345029:R518G	ENSP00000345029:R518G	R	-	1	0	FAM47A	34058765	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	2.017000	0.40981	0.471000	0.27319	0.271000	0.19318	CGC	.		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		C	34148844	G	C	34148844	3	2	42	1	0	0	0	0	1	0	0	0	5591	1116	39	2	827	2	FAM47A	23	34148844	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	2	34148844	121121716	250	9448	92	2									
PIN4	5303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	71417263	71417263	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtccatggtgggaccatttCaagaagcagcatttgccttg	12	9	1	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:71417263C>G	ENST00000373669.2	+	4	390	c.358C>G	c.(358-360)Caa>Gaa	p.Q120E	PIN4_ENST00000218432.5_3'UTR|PIN4_ENST00000423432.2_Intron|RN7SL388P_ENST00000498736.2_RNA	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	95	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					GGGACCATTTCAAGAAGCAGC	0.448																																					p.Q120E		.											.	PIN4-130	0			c.C358G						.						81	65	70					X																	71417263		2203	4300	6503	SO:0001583	missense	5303	exon4			CCATTTCAAGAAG	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.358C>G	X.37:g.71417263C>G	ENSP00000362773:p.Gln120Glu	Somatic	350	0		WXS	Illumina GAIIx	Phase_I	442	86	NM_006223	0	0	0	0	0	A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP	ENST00000373669.2	37	CCDS14417.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789690	0.50102	.	.	ENSG00000102309	ENST00000373669	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	N	0.03000	-0.44	0.80722	D	1	B	0.23377	0.084	B	0.37550	0.253	T	0.36138	-0.9760	9	0.15499	T	0.54	-14.9869	15.3582	0.74443	0.0:1.0:0.0:0.0	.	120	Q9Y237-2	.	E	120	.	ENSP00000362773:Q120E	Q	+	1	0	PIN4	71333988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.250000	0.78287	2.218000	0.71995	0.600000	0.82982	CAA	.		0.448	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057175.2	NM_006223		G	71417263	C	G	71417263	3	3	42	1	0	0	0	0	1	0	0	0	11970	827	29	3	372	3	PIN4	23	71417263	Missense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	37268419	71417263	83853297	251	9449											
MAGEE1	57692	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	75648451	75648451	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccccgctgatgtgccaggctCagacgtcccccagggtccca	11	18	1	2			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:75648451C>G	ENST00000361470.2	+	1	406	c.128C>G	c.(127-129)tCa>tGa	p.S43*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	43						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						GTGCCAGGCTCAGACGTCCCC	0.692																																					p.S43X		.											.	MAGEE1-262	0			c.C128G						.						24	20	21					X																	75648451		2134	4194	6328	SO:0001587	stop_gained	57692	exon1			CAGGCTCAGACGT	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.128C>G	X.37:g.75648451C>G	ENSP00000354912:p.Ser43*	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	336	19	NM_020932	0	0	0	0	0	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619170	0.87460	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.14	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	4.0814	0.09927	0.0:0.7796:0.0:0.2204	.	.	.	.	X	43	.	ENSP00000354912:S43X	S	+	2	0	MAGEE1	75564855	.	.	0.005000	0.12908	0.063000	0.16089	.	.	0.329000	0.23460	0.600000	0.82982	TCA	.		0.692	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		G	75648451	C	G	75648451	4	3	42	1	0	0	0	0	0	1	0	0	9223	838	29	3	130	3	MAGEE1	23	75648451	Nonsense_Mutation	SNP	C	TCGA-OR-A5L2-01A-11D-A30A-10	4231188	75648451	79622109	252	9450											
SPANXN3	139067	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	142605206	142605206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccccattggtgctggaaGttggctgttccatgattctg	11	10	2	1			TCGA-OR-A5L2-01A-11D-A30A-10	TCGA-OR-A5L2-10A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99bd79e-aa33-4896-8d10-2517c793f439	48e26b1d-b84d-432b-940b-9907c81ddf5b	g.chrX:142605206G>T	ENST00000370503.2	-	1	97	c.14C>A	c.(13-15)aCt>aAt	p.T5N	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	5										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTGGAAGTTGGCTGTTC	0.463																																					p.T5N		.											.	SPANXN3-132	0			c.C14A						.						275	239	251					X																	142605206		2203	4300	6503	SO:0001583	missense	139067	exon1			CTGGAAGTTGGCT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.14C>A	X.37:g.142605206G>T	ENSP00000359534:p.Thr5Asn	Somatic	111	2		WXS	Illumina GAIIx	Phase_I	95	23	NM_001009609	0	0	0	0	0	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661011	0.29515	.	.	ENSG00000189252	ENST00000370503	T	0.07800	3.16	2.36	0.4	0.16331	.	.	.	.	.	T	0.20536	0.0494	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.10428	-1.0630	9	0.59425	D	0.04	.	3.1175	0.06380	0.1821:0.2825:0.5354:0.0	.	5	Q5MJ09	SPXN3_HUMAN	N	5	ENSP00000359534:T5N	ENSP00000359534:T5N	T	-	2	0	SPANXN3	142432872	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.087000	0.11215	0.026000	0.15269	0.509000	0.49947	ACT	.		0.463	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		T	142605206	G	T	142605206	3	4	42	1	0	0	0	0	1	0	0	0	15039	1029	36	3	419	3	SPANXN3	23	142605206	Missense_Mutation	SNP	G	TCGA-OR-A5L2-01A-11D-A30A-10	66956755	142605206	12665354	253	9451											
UBR4	23352	bcgsc.ca	37	chr1	19447843	19447843	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcaccttgctgccgcaCagagcacaggagagcagttg	14	12	0	2	rs1044010	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:19447843C>G	ENST00000375254.3	-	68	10008	c.9981G>C	c.(9979-9981)ctG>ctC	p.L3327L	UBR4_ENST00000375217.2_Silent_p.L3320L|UBR4_ENST00000375226.2_Silent_p.L3303L|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375267.2_Silent_p.L3327L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTGCCGCACAGAGCACAGG	0.602													C|||	3007	0.600439	0.5424	0.6844	5008	,	,		8659	0.7589		0.5775	False		,,,				2504	0.4796				p.L3327L		.											.	UBR4-612	0			c.G9981C						.	C		2419,1987	616.9+/-392.9	670,1079,454	66	64	65		9981	1.8	1	1	dbSNP_86	65	4866,3734	618.0+/-396.7	1392,2082,826	no	coding-synonymous	UBR4	NM_020765.2		2062,3161,1280	GG,GC,CC		43.4186,45.0976,43.9874		3327/5184	19447843	7285,5721	2203	4300	6503	SO:0001819	synonymous_variant	23352	exon68			GCCGCACAGAGCA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9981G>C	1.37:g.19447843C>G		Somatic	437	4		WXS	Illumina GAIIx	Phase_I	348	11	NM_020765	0	0	0	0	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																			C|0.488;G|0.512		0.602	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19447843	C	G	19447843	2	3	43	1	0	0	0	0	0	0	0	1	16953	465	17	3		3	UBR4	1	19447843	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		19447843	229802778	1	9452											
RSPO1	284654	bcgsc.ca	37	chr1	38079517	38079517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccacagagctgctgctTcttggagcagggcccccacg	12	14	1	1	rs36043533	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:38079517T>G	ENST00000401069.1	-	6	1196	c.484A>C	c.(484-486)Aag>Cag	p.K162Q	RSPO1_ENST00000356545.2_Missense_Mutation_p.K162Q|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.K162Q|RSPO1_ENST00000373059.1_Missense_Mutation_p.K135Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	162	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTGCTGCTTCTTGGAGCAG	0.617													T|||	242	0.0483227	0.0045	0.0418	5008	,	,		19712	0.0476		0.0427	False		,,,				2504	0.1186				p.K162Q	GBM(122;680 2230 27822 42821)	.											.	RSPO1-22	0			c.A484C						.	T	GLN/LYS,GLN/LYS,GLN/LYS,	45,3859		0,45,1907	56	60	59		484,484,403,	5.4	1	1	dbSNP_126	59	470,7816		13,444,3686	no	missense,missense,missense,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	53,53,53,	13,489,5593	GG,GT,TT		5.6722,1.1527,4.2248	probably-damaging,probably-damaging,probably-damaging,	162/264,162/264,135/237,	38079517	515,11675	1952	4143	6095	SO:0001583	missense	284654	exon6			GCTGCTTCTTGGA	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.484A>C	1.37:g.38079517T>G	ENSP00000383847:p.Lys162Gln	Somatic	320	2		WXS	Illumina GAIIx	Phase_I	219	14	NM_001242908	0	0	0	0	0	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	CCDS41304.1	84	0.038461538461538464	3	0.006097560975609756	13	0.03591160220994475	35	0.06118881118881119	33	0.04353562005277045	T	21.6	4.171296	0.78452	0.011527	0.056722	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.42	5.42	0.78866	.	0.100628	0.64402	D	0.000002	T	0.35624	0.0938	L	0.57536	1.79	0.09310	P	1.0	P;P	0.38677	0.589;0.642	B;B	0.39503	0.295;0.301	T	0.73418	-0.3989	9	0.56958	D	0.05	.	15.7743	0.78198	0.0:0.0:0.0:1.0	rs36043533	135;162	Q2MKA7-2;Q2MKA7	.;RSPO1_HUMAN	Q	135;162;162;162	ENSP00000362150:K135Q;ENSP00000348944:K162Q;ENSP00000383847:K162Q;ENSP00000383846:K162Q	ENSP00000348944:K162Q	K	-	1	0	RSPO1	37852104	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.283000	0.78640	2.189000	0.69895	0.533000	0.62120	AAG	T|0.954;G|0.046		0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		G	38079517	T	G	38079517	3	3	43	1	0	0	0	0	1	0	0	0	13754	1792	62	5	315	5	RSPO1	1	38079517	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	18631674	38079517	211171104	2	9453											
ZFYVE9	9372	bcgsc.ca	37	chr1	52761610	52761610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagatttcggaagccattGtttggagagacggggcatac	14	7	1	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:52761610G>T	ENST00000371591.1	+	11	3425	c.3294G>T	c.(3292-3294)ttG>ttT	p.L1098F	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.L1098F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L1039F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1098					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						GGAAGCCATTGTTTGGAGAGA	0.373																																					p.L1098F		.											.	ZFYVE9-230	0			c.G3294T						.						189	174	179					1																	52761610		2203	4300	6503	SO:0001583	missense	9372	exon12			GCCATTGTTTGGA	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.3294G>T	1.37:g.52761610G>T	ENSP00000360647:p.Leu1098Phe	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	50	4	NM_004799	0	0	0	0	0	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293039	0.60086	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.49139	0.87;0.79;0.79	4.68	-0.288	0.12855	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000024	T	0.58481	0.2125	L	0.56769	1.78	0.46678	D	0.999155	D;D	0.89917	0.999;1.0	D;D	0.87578	0.982;0.998	T	0.56866	-0.7908	10	0.66056	D	0.02	.	9.1488	0.36951	0.424:0.0:0.576:0.0	.	1039;1098	O95405-2;O95405	.;ZFYV9_HUMAN	F	1039;1098;1098	ENSP00000349737:L1039F;ENSP00000287727:L1098F;ENSP00000360647:L1098F	ENSP00000287727:L1098F	L	+	3	2	ZFYVE9	52534198	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.200000	0.32247	-0.010000	0.14271	0.579000	0.79373	TTG	.		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		T	52761610	G	T	52761610	3	4	43	1	0	0	0	0	1	0	0	0	17719	1368	48	3	3343	3	ZFYVE9	1	52761610	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	14682093	52761610	196489011	3	9454											
DHCR24	1718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	55337052	55337052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcctcatctgtcatgaCccctgtcataatgacagcct	6	15	5	2	rs181555625		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:55337052C>G	ENST00000371269.3	-	5	945	c.847G>C	c.(847-849)Gtc>Ctc	p.V283L	DHCR24_ENST00000535035.1_Missense_Mutation_p.V242L|DHCR24_ENST00000537443.1_Missense_Mutation_p.V115L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	283					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						TCTGTCATGACCCCTGTCATA	0.587																																					p.V283L	Pancreas(39;516 1021 24601 30715 32780)	.											.	DHCR24-91	0			c.G847C						.						53	46	49					1																	55337052		2203	4300	6503	SO:0001583	missense	1718	exon5			TCATGACCCCTGT	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.847G>C	1.37:g.55337052C>G	ENSP00000360316:p.Val283Leu	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	60	6	NM_014762	0	0	8	8	0	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273555	0.23221	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.92397	-3.03;-2.03;-3.03	5.31	4.39	0.52855	.	0.326793	0.33235	N	0.005122	D	0.89615	0.6766	L	0.56769	1.78	0.52501	D	0.999952	B;B;B	0.25850	0.064;0.109;0.136	B;B;B	0.20577	0.019;0.019;0.03	D	0.86513	0.1811	10	0.30078	T	0.28	-29.8624	15.6657	0.77227	0.1384:0.8616:0.0:0.0	.	242;242;283	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	L	283;115;242	ENSP00000360316:V283L;ENSP00000439852:V115L;ENSP00000440191:V242L	ENSP00000360316:V283L	V	-	1	0	DHCR24	55109640	0.995000	0.38212	0.889000	0.34880	0.265000	0.26407	2.942000	0.49018	1.372000	0.46190	0.655000	0.94253	GTC	C|0.999;A|0.000		0.587	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		G	55337052	C	G	55337052	3	3	43	1	0	0	0	0	1	0	0	0	4490	507	18	3	723	3	DHCR24	1	55337052	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	2575442	55337052	193913569	4	9455											
FCRL2	79368	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	157740445	157740445	+	Frame_Shift_Del	DEL	G	G	-													gacagaagagggcgccacaaGggtcagcgaatctggaagag							TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:157740445delG	ENST00000361516.3	-	3	112	c.64delC	c.(64-66)cttfs	p.L22fs	FCRL2_ENST00000392274.3_Frame_Shift_Del_p.L22fs|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Frame_Shift_Del_p.L22fs	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	22	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCGCCACAAGGGTCAGCGAA	0.502																																					p.L22fs		.											.	FCRL2-92	0			c.64delC						.						36	36	36					1																	157740445		2203	4300	6503	SO:0001589	frameshift_variant	79368	exon3			CCACAAGGGTCAG	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.64delC	1.37:g.157740445delG	ENSP00000355157:p.Leu22fs	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	56	16	NM_030764	0	0	0	0	0	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Frame_Shift_Del	DEL	ENST00000361516.3	37	CCDS1168.1																																																																																			.		0.502	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		-	157740445	G	-	157740445	7	5	43	1	0	1	0	1	0	0	0	0	5817	1000	35	0	1502	0	FCRL2	1	157740445	Frame_Shift_Del	DEL	G	TCGA-OR-A5L3-01A-11D-A29I-10	102403393	157740445	91510176	5	9456											
GJC2	57165	hgsc.bcm.edu	37	chr1	228346053	228346053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcccgaccgggcaacaCgatgggcggaggcgcatcca	16	15	0	0	rs116557768	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr1:228346053C>T	ENST00000366714.2	+	2	769	c.594C>T	c.(592-594)caC>caT	p.H198H		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	198					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				CCGGGCAACACGATGGGCGGA	0.731													.|||	80	0.0159744	0.0015	0.013	5008	,	,		5629	0		0.0328	False		,,,				2504	0.0368				p.H198H		.											.	GJC2-68	0			c.C594T						.	C		46,4328		2,42,2143	13	16	15		594	-2	0.6	1	dbSNP_132	15	341,8201		6,329,3936	no	coding-synonymous	GJC2	NM_020435.3		8,371,6079	TT,TC,CC		3.992,1.0517,2.9963		198/440	228346053	387,12529	2187	4271	6458	SO:0001819	synonymous_variant	57165	exon2			GCAACACGATGGG	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.594C>T	1.37:g.228346053C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	14	NM_020435	0	0	0	0	0	O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	CCDS1569.1																																																																																			C|0.986;T|0.014		0.731	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		T	228346053	C	T	228346053	2	4	43	1	0	0	0	0	0	0	0	1	6441	535	19	1		1	GJC2	1	228346053	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	70605608	228346053	20904568	6	9457											
C2orf71	388939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	29295883	29295883	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctttgccataggagccccTgagagcaggcagtcctgggg	14	12	0	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:29295883T>A	ENST00000331664.5	-	1	1244	c.1245A>T	c.(1243-1245)tcA>tcT	p.S415S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	415					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						TAGGAGCCCCTGAGAGCAGGC	0.582																																					p.S415S		.											.	C2orf71-91	0			c.A1245T						.						83	85	84					2																	29295883		1977	4159	6136	SO:0001819	synonymous_variant	388939	exon1			AGCCCCTGAGAGC		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.1245A>T	2.37:g.29295883T>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	159	58	NM_001029883	0	0	0	0	0		Silent	SNP	ENST00000331664.5	37	CCDS42669.1																																																																																			.		0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29295883	T	A	29295883	2	1	43	1	0	0	0	0	0	0	0	1	2198	1567	55	5		5	C2orf71	2	29295883	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10		29295883	213903490	7	9458											
GALNT14	79623	broad.mit.edu;bcgsc.ca	37	chr2	31147655	31147655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttgaagctctggcagcGcagattcttcctcaggtcca	9	14	3	2	rs377585928		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:31147655G>A	ENST00000349752.5	-	12	1825	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	GALNT14_ENST00000420311.2_Missense_Mutation_p.R361C|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.R363C|GALNT14_ENST00000324589.5_Missense_Mutation_p.R401C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R376C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	396					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)					CTCTGGCAGCGCAGATTCTTC	0.547																																					p.R401C		.											.	GALNT14-93	0			c.C1201T						.		CYS/ARG	0,4406		0,0,2203	85	72	76		1186	2.8	0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT14	NM_024572.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	396/553	31147655	1,13005	2203	4300	6503	SO:0001583	missense	79623	exon13			GGCAGCGCAGATT	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.1186C>T	2.37:g.31147655G>A	ENSP00000288988:p.Arg396Cys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_001253826	0	0	0	0	0	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	g	20.0	3.929754	0.73327	0.0	1.16E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	4.83	2.76	0.32466	.	1.073180	0.07244	N	0.864697	T	0.35799	0.0944	L	0.48362	1.52	0.35068	D	0.762232	B;P;P;B;P	0.51791	0.001;0.85;0.948;0.001;0.767	B;B;P;B;B	0.47206	0.005;0.235;0.541;0.001;0.183	T	0.43861	-0.9365	10	0.62326	D	0.03	.	10.6039	0.45384	0.0:0.0:0.3884:0.6116	.	361;363;401;396;376	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	396;401;376;363;361;363	ENSP00000288988:R396C;ENSP00000314500:R401C;ENSP00000385435:R376C;ENSP00000348497:R363C;ENSP00000415514:R361C;ENSP00000406399:R363C	ENSP00000314500:R401C	R	-	1	0	GALNT14	31001159	0.995000	0.38212	0.009000	0.14445	0.977000	0.68977	5.345000	0.65987	1.000000	0.39049	0.306000	0.20318	CGC	.		0.547	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31147655	G	A	31147655	3	1	43	1	0	0	0	0	1	0	0	0	6237	1087	38	1	488	1	GALNT14	2	31147655	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	1851772	31147655	212051718	8	9459											
SLC5A7	60482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	108627278	108627278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttccttgatgttgattcCagtccagaagggtctgggac	12	10	1	3			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:108627278C>T	ENST00000264047.2	+	9	1980	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	SLC5A7_ENST00000409059.1_Silent_p.S568S|SLC5A7_ENST00000540517.1_Silent_p.S463S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	568					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTGATTCCAGTCCAGAAG	0.403																																					p.S568S		.											.	SLC5A7-93	0			c.C1704T						.						35	37	36					2																	108627278		2200	4297	6497	SO:0001819	synonymous_variant	60482	exon9			TGATTCCAGTCCA	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1704C>T	2.37:g.108627278C>T		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	21	10	NM_021815	0	0	0	0	0	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																			.		0.403	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			T	108627278	C	T	108627278	2	4	43	1	0	0	0	0	0	0	0	1	14715	581	21	3		3	SLC5A7	2	108627278	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	77479623	108627278	134572095	9	9460											
IWS1	55677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128281317	128281317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcatttacatcatcctcacCgtctgaccctgaatcccgtt	4	16	4	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:128281317C>G	ENST00000295321.4	-	2	344	c.85G>C	c.(85-87)Ggt>Cgt	p.G29R	IWS1_ENST00000486662.1_Intron|IWS1_ENST00000455721.2_Missense_Mutation_p.G36R	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	29					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCATCCTCACCGTCTGACCCT	0.438																																					p.G29R		.											.	IWS1-91	0			c.G85C						.						276	231	246					2																	128281317		2203	4300	6503	SO:0001583	missense	55677	exon2			CCTCACCGTCTGA	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.85G>C	2.37:g.128281317C>G	ENSP00000295321:p.Gly29Arg	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	101	33	NM_017969	0	0	0	0	0	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111163	0.56398	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.30182	1.55;1.54	5.65	3.86	0.44501	.	0.293408	0.29348	N	0.012406	T	0.16981	0.0408	N	0.22421	0.69	0.25739	N	0.985181	P	0.38617	0.64	B	0.35510	0.204	T	0.11941	-1.0567	10	0.17369	T	0.5	-2.6949	8.634	0.33936	0.0:0.7852:0.0:0.2148	.	29	Q96ST2	IWS1_HUMAN	R	29;29;36;34	ENSP00000295321:G29R;ENSP00000399245:G36R	ENSP00000295321:G29R	G	-	1	0	IWS1	127997787	0.644000	0.27277	0.998000	0.56505	0.997000	0.91878	0.905000	0.28504	0.746000	0.32786	0.650000	0.86243	GGT	.		0.438	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		G	128281317	C	G	128281317	3	3	43	1	0	0	0	0	1	0	0	0	7958	652	23	2	2426	2	IWS1	2	128281317	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	19654039	128281317	114918056	10	9461											
HJURP	55355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	234750050	234750050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatggcccaggagtccGggaggcacatccggcgaggc	16	12	1	0	rs148843421	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:234750050G>A	ENST00000411486.2	-	8	1441	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	HJURP_ENST00000432087.1_Missense_Mutation_p.P405L|HJURP_ENST00000441687.1_Missense_Mutation_p.P374L|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	459					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.P459Q(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)		CCAGGAGTCCGGGAGGCACAT	0.562																																					p.P459L		.											.	HJURP-69	1	Substitution - Missense(1)	lung(1)	c.C1376T						.	G	LEU/PRO	5,4401	11.4+/-27.6	0,5,2198	72	75	74		1376	2.2	0	2	dbSNP_134	74	0,8600		0,0,4300	yes	missense	HJURP	NM_018410.3	98	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	459/749	234750050	5,13001	2203	4300	6503	SO:0001583	missense	55355	exon8			GAGTCCGGGAGGC		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.1376C>T	2.37:g.234750050G>A	ENSP00000414109:p.Pro459Leu	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	82	17	NM_018410	0	0	0	0	0	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	7.235	0.600191	0.13939	0.001135	0.0	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	3.98	2.2	0.27929	Holliday junction regulator protein family C-terminal repeat (1);	0.361995	0.23704	N	0.045388	T	0.49626	0.1568	L	0.31065	0.9	0.09310	N	1	B;B;B	0.21905	0.05;0.05;0.062	B;B;B	0.23852	0.017;0.017;0.049	T	0.38023	-0.9680	10	0.39692	T	0.17	-10.5301	6.678	0.23106	0.2138:0.0:0.7862:0.0	.	374;405;459	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	L	459;405;374;374	ENSP00000414109:P459L;ENSP00000407208:P405L;ENSP00000401944:P374L;ENSP00000393253:P374L	ENSP00000414109:P459L	P	-	2	0	HJURP	234414789	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.565000	0.23578	0.664000	0.31047	-0.736000	0.03550	CCG	G|1.000;A|0.000		0.562	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		A	234750050	G	A	234750050	3	1	43	1	0	0	0	0	1	0	0	0	7216	1116	39	1	878	1	HJURP	2	234750050	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	106468733	234750050	8449323	11	9462											
ANKMY1	51281	bcgsc.ca	37	chr2	241465261	241465261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaatgtcgttgtggcaGtgagtctggagggagatgag	17	4	1	4	rs35186665	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:241465261G>A	ENST00000272972.3	-	6	1123	c.909C>T	c.(907-909)caC>caT	p.H303H	ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000403283.1_Silent_p.H241H|ANKMY1_ENST00000391987.1_Silent_p.H303H|ANKMY1_ENST00000373318.2_Silent_p.H162H|ANKMY1_ENST00000405002.1_Silent_p.H73H|ANKMY1_ENST00000373320.4_Silent_p.H73H|ANKMY1_ENST00000405523.3_Silent_p.H162H|ANKMY1_ENST00000401804.1_Silent_p.H392H|ANKMY1_ENST00000406958.1_Silent_p.H162H|ANKMY1_ENST00000361678.4_Silent_p.H162H|ANKMY1_ENST00000536462.1_Silent_p.H115H	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	303							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)		CGTTGTGGCAGTGAGTCTGGA	0.592													G|||	253	0.0505192	0.0038	0.0461	5008	,	,		22147	0.0119		0.0915	False		,,,				2504	0.1145				p.H303H		.											.	ANKMY1-90	0			c.C909T						.	G	,	98,4308	78.3+/-116.7	2,94,2107	171	130	144		909,486	-2.2	0.1	2	dbSNP_126	144	898,7702	202.1+/-245.5	53,792,3455	no	coding-synonymous,coding-synonymous	ANKMY1	NM_016552.2,NM_017844.2	,	55,886,5562	AA,AG,GG		10.4419,2.2242,7.658	,	303/942,162/718	241465261	996,12010	2203	4300	6503	SO:0001819	synonymous_variant	51281	exon6			GTGGCAGTGAGTC	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.909C>T	2.37:g.241465261G>A		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_016552	0	0	0	0	0	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1	94	0.04304029304029304	4	0.008130081300813009	19	0.052486187845303865	6	0.01048951048951049	65	0.08575197889182058	G	13.84	2.357071	0.41801	0.022242	0.104419	ENSG00000144504	ENST00000539830	.	.	.	3.63	-2.19	0.07015	.	.	.	.	.	T	0.03220	0.0094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39742	-0.9599	5	0.66056	D	0.02	-13.4375	8.5052	0.33184	0.5436:0.0:0.4564:0.0	rs35186665	.	.	.	I	231	.	ENSP00000444166:T231I	T	-	2	0	ANKMY1	241113934	0.990000	0.36364	0.078000	0.20375	0.008000	0.06430	0.172000	0.16704	-0.270000	0.09285	-0.670000	0.03821	ACT	G|0.934;A|0.066		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		A	241465261	G	A	241465261	2	1	43	1	0	0	0	0	0	0	0	1	634	1020	36	3		3	ANKMY1	2	241465261	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	6715211	241465261	1734112	12	9463											
SNED1	25992	hgsc.bcm.edu	37	chr2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcgcctgccggagcTgcgcctgctcaatgaccaca	12	18	1	1	rs17440466	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P|SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		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)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5	6	6		3683	4.4	1	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	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.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	18	18	NM_001080437	0	0	0	0	0	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		C	242011084	T	C	242011084	3	2	43	1	0	0	0	0	1	0	0	0	14890	1580	55	4	3781	4	SNED1	2	242011084	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	545823	242011084	1188289	13	9464											
PDCD6IP	10015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	33877676	33877676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatgatcgagttccagaCcttaaagatctagatcctat	6	9	2	4			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr3:33877676C>T	ENST00000307296.3	+	8	1352	c.975C>T	c.(973-975)gaC>gaT	p.D325D	PDCD6IP_ENST00000457054.2_Silent_p.D330D			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	325	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				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						GAGTTCCAGACCTTAAAGATC	0.383																																					p.D330D		.											.	PDCD6IP-228	0			c.C990T						.						148	151	150					3																	33877676		2203	4300	6503	SO:0001819	synonymous_variant	10015	exon8			TCCAGACCTTAAA	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.975C>T	3.37:g.33877676C>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	153	53	NM_001162429	0	0	2	2	0	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	CCDS2660.1																																																																																			.		0.383	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			T	33877676	C	T	33877676	2	4	43	1	0	0	0	0	0	0	0	1	11663	506	18	3		3	PDCD6IP	3	33877676	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		33877676	164144754	14	9465											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	rs121913407		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.S45P	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	c.T133C						.						84	74	78					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GCTCCTTCTCTGA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	134	57	NM_001098209	0	0	10	16	6	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT	.		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		C	41266136	T	C	41266136	3	2	43	1	0	0	0	0	1	0	0	0	4025	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	7388460	41266136	156756294	15	9466											
CNBP	7555	hgsc.bcm.edu	37	chr3	128889366	128889366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcggtaacagttgactTcacttgtcttgctgcagttg	10	10	2	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr3:128889366T>C	ENST00000422453.2	-	5	624	c.464A>G	c.(463-465)gAa>gGa	p.E155G	CNBP_ENST00000451728.2_Missense_Mutation_p.E156G|CNBP_ENST00000504813.1_Missense_Mutation_p.E145G|CNBP_ENST00000502976.1_Missense_Mutation_p.E148G|CNBP_ENST00000446936.2_Missense_Mutation_p.E150G|CNBP_ENST00000441626.2_Missense_Mutation_p.E157G|CNBP_ENST00000500450.2_Missense_Mutation_p.E138G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	155					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						ACAGTTGACTTCACTTGTCTT	0.443																																					p.E157G		.											.	CNBP-226	0			c.A470G						.						194	179	184					3																	128889366		2203	4300	6503	SO:0001583	missense	7555	exon5			TTGACTTCACTTG	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.464A>G	3.37:g.128889366T>C	ENSP00000410619:p.Glu155Gly	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_001127192	0	0	50	50	0	A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Missense_Mutation	SNP	ENST00000422453.2	37	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778031	0.49786	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	Zinc finger, CCHC retroviral-type (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	N	0.17723	0.515	0.80722	D	1	B;B;P	0.37914	0.22;0.328;0.611	B;B;B	0.38985	0.179;0.157;0.287	T	0.47368	-0.9123	9	0.72032	D	0.01	-4.7896	14.6032	0.68456	0.0:0.0:0.0:1.0	.	138;148;155	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	G	148;155;156;150;138;145;157	.	ENSP00000410619:E155G	E	-	2	0	CNBP	130372056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.333000	0.79357	0.482000	0.46254	GAA	.		0.443	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		C	128889366	T	C	128889366	3	2	43	1	0	0	0	0	1	0	0	0	3599	1783	62	4	73	4	CNBP	3	128889366	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	87623230	128889366	69133064	16	9467											
CPNE4	131034	bcgsc.ca	37	chr3	131268824	131268824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttagtttcctctgacgcTgacttggcaaccttctggat	10	10	2	2	rs11915192	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr3:131268824T>C	ENST00000512055.1	-	18	3395	c.1269A>G	c.(1267-1269)tcA>tcG	p.S423S	CPNE4_ENST00000429747.1_Silent_p.S423S|CPNE4_ENST00000502818.1_Silent_p.S441S|CPNE4_ENST00000511604.1_Silent_p.S423S|CPNE4_ENST00000512332.1_Silent_p.S441S			Q96A23	CPNE4_HUMAN	copine IV	423	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCTCTGACGCTGACTTGGCAA	0.517													T|||	878	0.175319	0.2443	0.1268	5008	,	,		20206	0.1141		0.1352	False		,,,				2504	0.2209				p.S423S		.											.	CPNE4-92	0			c.A1269G						.	T		952,3454	360.9+/-315.4	98,756,1349	157	135	142		1269	1.2	1	3	dbSNP_120	142	1191,7409	242.9+/-272.7	67,1057,3176	no	coding-synonymous	CPNE4	NM_130808.1		165,1813,4525	CC,CT,TT		13.8488,21.6069,16.477		423/558	131268824	2143,10863	2203	4300	6503	SO:0001819	synonymous_variant	131034	exon14			TGACGCTGACTTG	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1269A>G	3.37:g.131268824T>C		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	172	6	NM_130808	0	0	0	0	0	D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	CCDS3072.1																																																																																			T|0.840;C|0.160		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		C	131268824	T	C	131268824	2	2	43	1	0	0	0	0	0	0	0	1	3821	1567	55	4		4	CPNE4	3	131268824	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	2379458	131268824	66753606	17	9468											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	60	11		WXS	Illumina GAIIx	Phase_I	183	65	NM_000203	0	0	5	8	3	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	43	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10		996204	190158072	18	9469											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	24	13	NM_175918	0	0	3	11	8	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	43	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	392551	1388755	189765521	19	9470											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1389070	1389070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacgtgccgatgtggAgtgcccgcctgctcacacgt	12	15	2	0	rs151096093	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:1389070A>G	ENST00000324803.4	+	1	3731	c.771A>G	c.(769-771)ggA>ggG	p.G257G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	257					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGATGTGGAGTGCCCGCCT	0.697																																					p.G257G		.											.	CRIPAK-90	0			c.A771G						.						159	142	148					4																	1389070		2202	4299	6501	SO:0001819	synonymous_variant	285464	exon1			ATGTGGAGTGCCC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.771A>G	4.37:g.1389070A>G		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	43	14	NM_175918	0	0	2	8	6	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			A|0.981;G|0.019		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1389070	A	G	1389070	2	3	43	1	0	0	0	0	0	0	0	1	3884	291	11	4		4	CRIPAK	4	1389070	Silent	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	315	1389070	189765206	20	9471											
GABRB1	2560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	47408836	47408836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggctctgctggagtatGcctttgtaaattacatcttc	8	10	2	0			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:47408836G>A	ENST00000295454.3	+	8	1265	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	GABRB1_ENST00000538619.1_Missense_Mutation_p.A255T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	325					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTGGAGTATGCCTTTGTAAA	0.438																																					p.A325T		.											.	GABRB1-92	0			c.G973A						.						192	183	186					4																	47408836		2203	4300	6503	SO:0001583	missense	2560	exon8			GAGTATGCCTTTG		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.973G>A	4.37:g.47408836G>A	ENSP00000295454:p.Ala325Thr	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	98	39	NM_000812	0	0	0	0	0	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995360	0.93167	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86562	-2.14;-2.14	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000003	D	0.93615	0.7961	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.967;0.996	D	0.94473	0.7686	10	0.87932	D	0	-18.6479	17.5289	0.87808	0.0:0.0:1.0:0.0	.	255;325	F5GXV5;P18505	.;GBRB1_HUMAN	T	325;255	ENSP00000295454:A325T;ENSP00000440330:A255T	ENSP00000295454:A325T	A	+	1	0	GABRB1	47103593	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.657000	0.98554	2.464000	0.83262	0.467000	0.42956	GCC	.		0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			A	47408836	G	A	47408836	3	1	43	1	0	0	0	0	1	0	0	0	6190	1319	46	3	1003	3	GABRB1	4	47408836	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	46019766	47408836	143745440	21	9472											
PF4	5196	broad.mit.edu	37	chr4	74846972	74846972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagcggggcttgcagGtccaagcaaattttccttcc	10	11	0	0	rs62313967		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:74846972G>A	ENST00000296029.3	-	3	425	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	85					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GGGCTTGCAGGTCCAAGCAAA	0.428																																					p.D85D		.											.	PF4-90	0			c.C255T						.						84	89	88					4																	74846972		2203	4300	6503	SO:0001819	synonymous_variant	5196	exon3			TTGCAGGTCCAAG	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.255C>T	4.37:g.74846972G>A		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	111	9	NM_002619	0	0	0	0	0	Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	CCDS3562.1																																																																																			.		0.428	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			A	74846972	G	A	74846972	2	1	43	1	0	0	0	0	0	0	0	1	11791	1252	44	3		3	PF4	4	74846972	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	27438136	74846972	116307304	22	9473											
DSPP	1834	bcgsc.ca	37	chr4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgatagcagtgaCagcagtgacagcagcgacag	14	9	0	3			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	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)		atagcagtgacagcagtgaca	0.542																																					p.D1071E		.											.	DSPP-90	0			c.C3213A						.						56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu	Somatic	417	2		WXS	Illumina GAIIx	Phase_I	669	23	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC	.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537027	C	A	88537027	3	1	43	1	0	0	0	0	1	0	0	0	4796	477	17	3	3227	3	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	13690055	88537027	102617249	23	9474											
DSPP	1834	mdanderson.org	37	chr4	88537087	88537087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatagcagtgacagcagCaatagcagtgacagcagcga	13	8	0	3	rs553101049	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:88537087C>T	ENST00000282478.7	+	4	3306	c.3273C>T	c.(3271-3273)agC>agT	p.S1091S	DSPP_ENST00000399271.1_Silent_p.S1091S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1091	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)		gtgacagcagcaatagcagtg	0.547													C|||	744	0.148562	0.1498	0.1052	5008	,	,		12505	0.1944		0.1312	False		,,,				2504	0.1483				p.S1091S		.											.	DSPP-90	0			c.C3273T						.																																			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.3273C>T	4.37:g.88537087C>T		Somatic	192	3		WXS	Illumina GAIIx	Phase_I	187	31	NM_014208	0	0	0	0	0	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	88537087	C	T	88537087	2	4	43	1	0	0	0	0	0	0	0	1	4796	709	25	3		3	DSPP	4	88537087	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	60	88537087	102617189	24	9475											
DCHS2	54798	broad.mit.edu;bcgsc.ca	37	chr4	155410822	155410822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgtcggcatcggaggcGctgacccacatgactacagt	12	14	0	2	rs4696593	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr4:155410822G>A	ENST00000339452.1	-	1	2046	c.1686C>T	c.(1684-1686)agC>agT	p.S562S	DCHS2_ENST00000443500.1_Silent_p.S562S|DCHS2_ENST00000456341.2_Silent_p.S555S	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1707	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(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)		CATCGGAGGCGCTGACCCACA	0.602													G|||	2909	0.580871	0.4849	0.4971	5008	,	,		17880	0.8333		0.5358	False		,,,				2504	0.5562				p.S562S		.											.	DCHS2-94	0			c.C1686T						.	G	,	636,748		143,350,199	58	67	64		1686,1686	2.6	1	4	dbSNP_111	64	1760,1422		498,764,329	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_001142553.1	,	641,1114,528	AA,AG,GG		44.6889,45.9538,47.5252	,	562/1370,562/710	155410822	2396,2170	692	1591	2283	SO:0001819	synonymous_variant	54798	exon1			GGAGGCGCTGACC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1686C>T	4.37:g.155410822G>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	84	4	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000339452.1	37	CCDS47150.1																																																																																			G|0.377;A|0.623		0.602	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		A	155410822	G	A	155410822	2	1	43	1	0	0	0	0	0	0	0	1	4297	1078	38	1		1	DCHS2	4	155410822	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	66873735	155410822	35743454	25	9476											
HSD17B4	3295	ucsc.edu;bcgsc.ca	37	chr5	118861713	118861713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtcaagattcaaggcaAttaaggtaaatgtgtattac	9	4	2	1	rs11205	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr5:118861713A>G	ENST00000256216.6	+	19	1808	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	HSD17B4_ENST00000414835.2_Missense_Mutation_p.I419V|HSD17B4_ENST00000504811.1_Missense_Mutation_p.I584V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.I535V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.I422V|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.I297V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.I541V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	559	Enoyl-CoA hydratase 2.|MaoC-like.		I -> V (in dbSNP:rs11205). {ECO:0000269|PubMed:14702039}.		alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I559V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ATTCAAGGCAATTAAGGTAAA	0.313													A|||	2004	0.40016	0.4092	0.4683	5008	,	,		15465	0.4177		0.4125	False		,,,				2504	0.3088				p.I584V	Colon(35;490 801 34689 41394 43344)	.											.	HSD17B4-92	1	Substitution - Missense(1)	prostate(1)	c.A1750G						.	A	VAL/ILE,VAL/ILE,VAL/ILE	1741,2663	519.1+/-369.9	341,1059,802	148	142	144		1675,1750,1621	5.4	1	5	dbSNP_52	144	3518,5082	512.7+/-378.0	717,2084,1499	yes	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	29,29,29	1058,3143,2301	GG,GA,AA		40.907,39.5322,40.4414	benign,benign,benign	559/737,584/762,541/719	118861713	5259,7745	2202	4300	6502	SO:0001583	missense	3295	exon20			AAGGCAATTAAGG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1675A>G	5.37:g.118861713A>G	ENSP00000256216:p.Ile559Val	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	46	5	NM_001199291	0	0	0	0	0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	888	0.4065934065934066	181	0.3678861788617886	164	0.4530386740331492	213	0.3723776223776224	330	0.43535620052770446	A	14.61	2.587740	0.46110	0.395322	0.40907	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.39	5.39	0.77823	MaoC-like dehydratase (1);	0.046452	0.85682	D	0.000000	T	0.00012	0.0000	L	0.28740	0.885	0.09310	P	0.9999982734	P;B;B;B;B	0.42827	0.791;0.223;0.418;0.094;0.118	B;B;B;B;B	0.40534	0.332;0.204;0.088;0.264;0.17	T	0.34527	-0.9825	9	0.39692	T	0.17	-21.7798	14.3833	0.66926	1.0:0.0:0.0:0.0	rs11205;rs1130646;rs3189732;rs11539470;rs11740179;rs16918307;rs17342666;rs60097041;rs11205	584;541;535;297;559	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	V	559;541;535;584;419;422;297	ENSP00000256216:I559V;ENSP00000424613:I541V;ENSP00000424940:I535V;ENSP00000420914:I584V;ENSP00000411960:I419V;ENSP00000425993:I422V;ENSP00000426272:I297V	ENSP00000256216:I559V	I	+	1	0	HSD17B4	118889612	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.836000	0.55813	2.050000	0.60909	0.482000	0.46254	ATT	A|0.591;G|0.409		0.313	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		G	118861713	A	G	118861713	3	3	43	1	0	0	0	0	1	0	0	0	7413	101	4	4	1749	4	HSD17B4	5	118861713	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10		118861713	62053547	26	9477											
RAD50	10111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	131927722	131927722	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggacagacttgccaaaTtgaagtaagttgcaacattt	9	8	0	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr5:131927722T>C	ENST00000265335.6	+	11	2176	c.1789T>C	c.(1789-1791)Ttg>Ctg	p.L597L	RAD50_ENST00000378823.3_Silent_p.L458L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	597					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)			ACTTGCCAAATTGAAGTAAGT	0.318								Homologous recombination																													p.L597L		.											.	RAD50-229	0			c.T1789C						.						80	86	84					5																	131927722		2203	4300	6503	SO:0001819	synonymous_variant	10111	exon11			GCCAAATTGAAGT	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.1789T>C	5.37:g.131927722T>C		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	144	54	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	9.236	1.037139	0.19669	.	.	ENSG00000113522	ENST00000434288	.	.	.	6.06	2.45	0.29901	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49194	-0.8965	4	.	.	.	-6.8943	8.7475	0.34596	0.0:0.3597:0.0:0.6403	.	.	.	.	T	95	.	.	I	+	2	0	RAD50	131955621	0.026000	0.19158	0.992000	0.48379	0.972000	0.66771	0.088000	0.14979	0.201000	0.20466	0.533000	0.62120	ATT	.		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		C	131927722	T	C	131927722	2	2	43	1	0	0	0	0	0	0	0	1	13029	1490	52	4		4	RAD50	5	131927722	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	13066009	131927722	48987538	27	9478											
PCDHB5	26167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140515569	140515569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgttgctacgcataatCgcggagatggcagaaaatac	10	8	1	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr5:140515569C>T	ENST00000231134.5	+	1	770	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			TACGCATAATCGCGGAGATGG	0.507																																					p.R185C		.											.	PCDHB5-95	0			c.C553T						.						82	83	83					5																	140515569		2203	4300	6503	SO:0001583	missense	26167	exon1			CATAATCGCGGAG	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.553C>T	5.37:g.140515569C>T	ENSP00000231134:p.Arg185Cys	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	142	57	NM_015669	0	0	0	0	0	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427606	0.25726	.	.	ENSG00000113209	ENST00000231134	T	0.20463	2.07	5.18	3.28	0.37604	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48021	0.1477	M	0.92026	3.265	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.36212	-0.9757	9	0.56958	D	0.05	.	7.3884	0.26895	0.3852:0.3865:0.2284:0.0	.	185	Q9Y5E4	PCDB5_HUMAN	C	185	ENSP00000231134:R185C	ENSP00000231134:R185C	R	+	1	0	PCDHB5	140495753	0.000000	0.05858	0.446000	0.26920	0.256000	0.26092	-1.443000	0.02405	2.581000	0.87130	0.555000	0.69702	CGC	.		0.507	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140515569	C	T	140515569	3	4	43	1	0	0	0	0	1	0	0	0	11584	884	31	1	555	1	PCDHB5	5	140515569	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	8587847	140515569	40399691	28	9479											
RANBP17	64901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	170648797	170648797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatgtatcatctcctaAtggaattcttctcttcagag	6	8	5	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr5:170648797A>G	ENST00000523189.1	+	22	2539	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	792					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCATCTCCTAATGGAATTCTT	0.328			T	TRD@	ALL																																p.N792S		.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17-524	0			c.A2375G						.						99	96	97					5																	170648797		2202	4297	6499	SO:0001583	missense	64901	exon22			CTCCTAATGGAAT	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2375A>G	5.37:g.170648797A>G	ENSP00000427975:p.Asn792Ser	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	29	13	NM_022897	0	0	0	0	0	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004581	0.54254	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66099	-0.19	5.85	5.85	0.93711	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.65616	0.2708	M	0.80616	2.505	0.40088	D	0.976216	P;P	0.37276	0.589;0.589	B;B	0.38020	0.263;0.263	T	0.67209	-0.5728	10	0.30854	T	0.27	-19.143	14.8066	0.69962	1.0:0.0:0.0:0.0	.	792;792	Q546R4;Q9H2T7	.;RBP17_HUMAN	S	792;222	ENSP00000427975:N792S	ENSP00000427975:N792S	N	+	2	0	RANBP17	170581402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.951000	0.70273	2.238000	0.73509	0.533000	0.62120	AAT	.		0.328	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		G	170648797	A	G	170648797	3	3	43	1	0	0	0	0	1	0	0	0	13072	101	4	4	2461	4	RANBP17	5	170648797	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	30133228	170648797	10266463	29	9480											
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327900	16327900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgatgctgatgctg	14	11	0	2	rs200111316		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr6:16327900C>A	ENST00000244769.4	-	8	1578	c.642G>T	c.(640-642)caG>caT	p.Q214H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q214H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgat	0.667																																					p.Q214H		.											.	ATXN1-93	0			c.G642T						.						4	8	7					6																	16327900		1667	3549	5216	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.642G>T	6.37:g.16327900C>A	ENSP00000244769:p.Gln214His	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	52	9	NM_001128164	0	0	1	1	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	4.744	0.138290	0.09083	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.51325	0.71;0.71	.	.	.	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.18587	-1.0332	5	0.21014	T	0.42	.	.	.	.	.	214	P54253	ATX1_HUMAN	H	214	ENSP00000244769:Q214H;ENSP00000416360:Q214H	ENSP00000244769:Q214H	Q	-	3	2	ATXN1	16435879	0.001000	0.12720	0.011000	0.14972	0.070000	0.16714	-0.244000	0.08903	-2.096000	0.00852	-2.162000	0.00326	CAG	.		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327900	C	A	16327900	3	1	43	1	0	0	0	0	1	0	0	0	1210	796	28	3	1813	3	ATXN1	6	16327900	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		16327900	154787167	30	9481											
HLA-DQB1	3119	bcgsc.ca	37	chr6	32629129	32629129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggggttcctcacctttcTgactcctttgacggatgata	9	12	2	3	rs1130432	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr6:32629129T>C	ENST00000399084.1	-	5	945	c.767A>G	c.(766-768)cAg>cGg	p.Q256R	HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.Q256R|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.Q256R|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1-AS1_ENST00000419852.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	256			Q -> R (in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03; dbSNP:rs1130432).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	CTCACCTTTCTGACTCCTTTG	0.557									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1335	0.266573	0.2723	0.1902	5008	,	,		12932	0.3204		0.2445	False		,,,				2504	0.2802				p.Q256R	Esophageal Squamous(151;720 1825 15000 40336 43415)	.											.	HLA-DQB1-22	0			c.A767G						.	T	ARG/GLN	946,3042		238,470,1286	28	25	26		767	3.6	0.9	6	dbSNP_86	26	1711,6421		446,819,2801	yes	missense	HLA-DQB1	NM_002123.4	43	684,1289,4087	CC,CT,TT		21.0403,23.7212,21.9224	benign	256/262	32629129	2657,9463	1994	4066	6060	SO:0001583	missense	3119	exon4	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	CCTTTCTGACTCC		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.767A>G	6.37:g.32629129T>C	ENSP00000382034:p.Gln256Arg	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	34	5	NM_002123	0	0	0	0	0	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399084.1	37	CCDS43451.1	417	0.19093406593406592	113	0.22967479674796748	63	0.17403314917127072	86	0.15034965034965034	155	0.20448548812664907	.	13.83	2.354500	0.41700	0.237212	0.210403	ENSG00000179344	ENST00000374943;ENST00000434651;ENST00000399084	T;T;T	0.00637	6.13;6.05;6.05	4.75	3.6	0.41247	.	0.567063	0.16716	N	0.202474	T	0.00384	0.0012	L	0.54965	1.715	0.39169	P	0.03744599999999998	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.003;0.004;0.005	T	0.39702	-0.9601	9	0.87932	D	0	.	7.8247	0.29307	0.0:0.1:0.0:0.9	rs1130432;rs3189265;rs9273619;rs9273620;rs12722395;rs35107830	221;256;256	A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.	R	256	ENSP00000364080:Q256R;ENSP00000407332:Q256R;ENSP00000382034:Q256R	ENSP00000364080:Q256R	Q	-	2	0	HLA-DQB1	32737107	0.999000	0.42202	0.933000	0.37362	0.910000	0.53928	1.001000	0.29783	1.776000	0.52262	0.528000	0.53228	CAG	T|0.827;C|0.173		0.557	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		C	32629129	T	C	32629129	3	2	43	1	0	0	0	0	1	0	0	0	7233	1580	55	4	26	4	HLA-DQB1	6	32629129	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	16301229	32629129	138485938	31	9482											
UTRN	7402	ucsc.edu	37	chr6	145051594	145051594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgaggcccctgaagaGccaagaagaaacctacaatc	8	12	0	5	rs4305737	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr6:145051594G>T	ENST00000367545.3	+	53	7911	c.7911G>T	c.(7909-7911)gaG>gaT	p.E2637D	UTRN_ENST00000367526.4_Missense_Mutation_p.E192D	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2637					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCTGAAGAGCCAAGAAGAA	0.443																																					p.E2637D		.											.	UTRN-95	0			c.G7911T						.						67	73	71					6																	145051594		2203	4300	6503	SO:0001583	missense	7402	exon53			TGAAGAGCCAAGA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7911G>T	6.37:g.145051594G>T	ENSP00000356515:p.Glu2637Asp	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	33	4	NM_007124	0	0	0	0	0	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305719	0.23736	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60299	0.2;3.46	5.11	2.72	0.32119	.	0.126886	0.35378	N	0.003255	T	0.20129	0.0484	N	0.25647	0.755	0.33236	P	0.44338599999999995	B	0.22414	0.069	B	0.20955	0.032	T	0.05289	-1.0894	9	0.24483	T	0.36	.	8.115	0.30937	0.6961:0.0:0.3039:0.0	.	2637	P46939	UTRO_HUMAN	D	2637;192	ENSP00000356515:E2637D;ENSP00000356496:E192D	ENSP00000356496:E192D	E	+	3	2	UTRN	145093287	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.168000	0.31859	0.379000	0.24794	-0.269000	0.10298	GAG	G|0.490;A|0.510		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	145051594	G	T	145051594	3	4	43	1	0	0	0	0	1	0	0	0	17152	962	34	3	8121	3	UTRN	6	145051594	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	112422465	145051594	26063473	32	9483											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtggtccgcatgaagCgcagaggcgggcgcgggccg	20	12	0	2	rs6969990	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			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)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3	4	3		70	4.4	0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	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.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156742501	C	G	156742501	3	3	43	1	0	0	0	0	1	0	0	0	10569	768	27	2	72	2	NOM1	7	156742501	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		156742501	2396162	33	9484											
SAMD12	401474	bcgsc.ca	37	chr8	119391791	119391791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccacccatcaggaagcaaTagggtaccttgtgtgagtaa	10	9	1	1	rs5020517	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:119391791T>C	ENST00000314727.4	-	4	607	c.471A>G	c.(469-471)ctA>ctG	p.L157L	SAMD12_ENST00000527515.1_Intron|SAMD12_ENST00000409003.4_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	157										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGGAAGCAATAGGGTACCTT	0.468													C|||	3008	0.600639	0.8654	0.5259	5008	,	,		18611	0.3244		0.6938	False		,,,				2504	0.4847				p.L157L		.											.	SAMD12-227	0			c.A471G						.	C	,	3727,679	287.2+/-279.2	1574,579,50	149	135	140		,471	3	0	8	dbSNP_113	140	5913,2687	430.6+/-356.6	2006,1901,393	no	intron,coding-synonymous	SAMD12	NM_001101676.1,NM_207506.2	,	3580,2480,443	CC,CT,TT		31.2442,15.4108,25.8804	,	,157/202	119391791	9640,3366	2203	4300	6503	SO:0001819	synonymous_variant	401474	exon4			AAGCAATAGGGTA	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.471A>G	8.37:g.119391791T>C		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	136	6	NM_207506	0	0	0	0	0	Q0P502	Silent	SNP	ENST00000314727.4	37	CCDS6325.1																																																																																			T|0.303;C|0.697		0.468	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		C	119391791	T	C	119391791	2	2	43	1	0	0	0	0	0	0	0	1	13862	1393	49	4		4	SAMD12	8	119391791	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10		119391791	26972231	34	9485											
TSNARE1	203062	bcgsc.ca	37	chr8	143413136	143413136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagttgattcggaagaCgttggccgacatctcctgga	13	9	1	2	rs10435683	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:143413136C>T	ENST00000307180.3	-	5	919	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	TSNARE1_ENST00000519651.1_Missense_Mutation_p.V49I|TSNARE1_ENST00000520166.1_Missense_Mutation_p.V268I|TSNARE1_ENST00000524325.1_Missense_Mutation_p.V268I	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	268			V -> I (in dbSNP:rs10435683).		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)	p.V268I(1)		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)					ATTCGGAAGACGTTGGCCGAC	0.612													C|||	2160	0.43131	0.5401	0.4424	5008	,	,		19919	0.4742		0.3231	False		,,,				2504	0.3436				p.V268I		.											.	TSNARE1-90	1	Substitution - Missense(1)	stomach(1)	c.G802A						.	C	ILE/VAL	2224,2180		567,1090,545	177	123	141		802	2.4	0	8	dbSNP_119	141	2772,5828		443,1886,1971	yes	missense	TSNARE1	NM_145003.3	29	1010,2976,2516	TT,TC,CC		32.2326,49.5005,38.4189	benign	268/514	143413136	4996,8008	2202	4300	6502	SO:0001583	missense	203062	exon5			GGAAGACGTTGGC			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.802G>A	8.37:g.143413136C>T	ENSP00000303437:p.Val268Ile	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	159	6	NM_145003	0	0	0	0	0	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	810	0.3708791208791209	194	0.3943089430894309	137	0.3784530386740331	269	0.47027972027972026	210	0.2770448548812665	C	3.809	-0.040197	0.07497	0.504995	0.322326	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.23	2.41	0.29592	t-SNARE (1);	0.261153	0.19294	N	0.117812	T	0.00012	0.0000	N	0.17474	0.49	0.52099	P	5.100000000002325E-5	B;B;B;B	0.20671	0.046;0.047;0.046;0.046	B;B;B;B	0.15484	0.013;0.003;0.013;0.013	T	0.46233	-0.9206	9	0.07030	T	0.85	-14.6583	6.5544	0.22452	0.0:0.7704:0.0:0.2296	rs10435683;rs13271812;rs59659999;rs10435683	268;49;268;268	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	I	268;268;268;49	ENSP00000428763:V268I;ENSP00000303437:V268I;ENSP00000427770:V268I;ENSP00000429679:V49I	ENSP00000303437:V268I	V	-	1	0	TSNARE1	143411043	0.273000	0.24181	0.041000	0.18516	0.846000	0.48090	0.430000	0.21428	0.257000	0.21650	0.655000	0.94253	GTC	C|0.606;T|0.394		0.612	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		T	143413136	C	T	143413136	3	4	43	1	0	0	0	0	1	0	0	0	16678	536	19	1	775	1	TSNARE1	8	143413136	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	24021345	143413136	2950886	35	9486											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	43	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	965732	144378868	1985154	36	9487											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990528	144990528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggtgcgggagccAgcggtagagccggagccgct	19	13	0	1	rs7014582	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:144990528A>G	ENST00000322810.4	-	32	14041	c.13872T>C	c.(13870-13872)gcT>gcC	p.A4624A	PLEC_ENST00000357649.2_Silent_p.A4491A|PLEC_ENST00000436759.2_Silent_p.A4514A|PLEC_ENST00000527096.1_Silent_p.A4510A|PLEC_ENST00000354958.2_Silent_p.A4465A|PLEC_ENST00000398774.2_Silent_p.A4455A|PLEC_ENST00000356346.3_Silent_p.A4473A|PLEC_ENST00000345136.3_Silent_p.A4487A|PLEC_ENST00000354589.3_Silent_p.A4487A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4624	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGGAGCCAGCGGTAGAGC	0.716													G|||	2389	0.477037	0.8979	0.3746	5008	,	,		8857	0.1508		0.4404	False		,,,				2504	0.3548				p.A4624A		.											.	PLEC-141	0			c.T13872C						.	G	,,,,,,,	2833,621		1197,439,91	12	16	15		13542,13419,13395,13872,13365,13461,13473,13461	-8.1	0	8	dbSNP_116	15	3324,4610		785,1754,1428	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	1982,2193,1519	GG,GA,AA		41.8956,17.9792,45.9343	,,,,,,,	4514/4575,4473/4534,4465/4526,4624/4685,4455/4516,4487/4548,4491/4552,4487/4548	144990528	6157,5231	1727	3967	5694	SO:0001819	synonymous_variant	5339	exon32			GGAGCCAGCGGTA	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.13872T>C	8.37:g.144990528A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_201380	0	0	6	7	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.536;G|0.464		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144990528	A	G	144990528	2	3	43	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144990528	Silent	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	611660	144990528	1373494	37	9488											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000354589.3_Silent_p.A1560A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	43	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	8889	144999417	1364605	38	9489											
OPLAH	26873	hgsc.bcm.edu	37	chr8	145107390	145107390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggcccccaggatgaCatccaccacgcgctgcgacg	10	18	0	1	rs185836803	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr8:145107390C>T	ENST00000426825.1	-	23	3346	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1089				QRVVDV -> NAWWMF (in Ref. 4; AAB81519). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGGATGACATCCACCACG	0.746													C|||	20	0.00399361	8e-04	0.0101	5008	,	,		10202	0		0.0109	False		,,,				2504	0.001				p.V1089I		.											.	OPLAH-68	0			c.G3265A						.	C	ILE/VAL	6,3568		0,6,1781	4	5	5		3265	4.4	1	8		5	61,7691		0,61,3815	no	missense	OPLAH	NM_017570.3	29	0,67,5596	TT,TC,CC		0.7869,0.1679,0.5916	probably-damaging	1089/1289	145107390	67,11259	1787	3876	5663	SO:0001583	missense	26873	exon23			GGATGACATCCAC	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3265G>A	8.37:g.145107390C>T	ENSP00000475943:p.Val1089Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	11	NM_017570	0	0	4	13	9	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	14.93	2.683579	0.47991	0.001679	0.007869	ENSG00000178814	ENST00000426825	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	.	.	.	0.35089	D	0.764157	D	0.61697	0.99	D	0.66497	0.944	T	0.80462	-0.1372	7	0.56958	D	0.05	.	14.8924	0.70620	0.0:1.0:0.0:0.0	.	1089	O14841	OPLA_HUMAN	I	1089	.	ENSP00000412071:V1089I	V	-	1	0	OPLAH	145179378	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.973000	0.63763	2.164000	0.68074	0.643000	0.83706	GTC	C|0.998;T|0.002		0.746	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		T	145107390	C	T	145107390	3	4	43	1	0	0	0	0	1	0	0	0	10915	478	17	3	623	3	OPLAH	8	145107390	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	107973	145107390	1256632	39	9490											
NACC2	138151	hgsc.bcm.edu	37	chr9	138903545	138903545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccacctcctcgccggcGtcgaaggcggggttggcggc	16	16	0	0	rs79175912	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr9:138903545G>A	ENST00000371753.1	-	5	1639	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	NACC2_ENST00000277554.2_Silent_p.D527D			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	527					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCTCGCCGGCGTCGAAGGCGG	0.721													G|||	14	0.00279553	8e-04	0.0014	5008	,	,		9266	0		0.008	False		,,,				2504	0.0041				p.D527D		.											.	NACC2-90	0			c.C1581T						.	G		7,4195		0,7,2094	6	7	6		1581	-7.4	0	9	dbSNP_131	6	80,8220		0,80,4070	no	coding-synonymous	NACC2	NM_144653.4		0,87,6164	AA,AG,GG		0.9639,0.1666,0.6959		527/588	138903545	87,12415	2101	4150	6251	SO:0001819	synonymous_variant	138151	exon6			GCCGGCGTCGAAG	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1581C>T	9.37:g.138903545G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	25	14	NM_144653	0	0	0	0	0		Silent	SNP	ENST00000371753.1	37	CCDS6993.1																																																																																			G|0.999;A|0.001		0.721	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		A	138903545	G	A	138903545	2	1	43	1	0	0	0	0	0	0	0	1	10174	1136	40	1		1	NACC2	9	138903545	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10		138903545	2309886	40	9491											
GPSM1	26086	broad.mit.edu;bcgsc.ca	37	chr9	139235606	139235606	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttggcctcagggacaGcacaggcctgaggttcaccc	11	14	4	1	rs78403475	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr9:139235606G>C	ENST00000440944.1	+	9	1427				GPSM1_ENST00000392945.3_Missense_Mutation_p.A455P	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CTCAGGGACAGCACAGGCCTG	0.657													G|||	467	0.0932508	0.0567	0.1009	5008	,	,		16606	0.1508		0.0805	False		,,,				2504	0.091				p.A455P		.											.	GPSM1-90	0			c.G1363C						.						15	19	18					9																	139235606		691	1590	2281	SO:0001627	intron_variant	26086	exon9			GGGACAGCACAGG	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1207+156G>C	9.37:g.139235606G>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	180	7	NM_015597	0	0	0	0	0	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	217	0.09935897435897435	35	0.07113821138211382	31	0.0856353591160221	86	0.15034965034965034	65	0.08575197889182058	G	4.405	0.074756	0.08485	.	.	ENSG00000160360	ENST00000392945	D	0.91996	-2.95	1.44	0.511	0.16989	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.80722	P	0.0	P	0.34977	0.478	B	0.21151	0.033	T	0.48364	-0.9042	7	0.87932	D	0	.	3.8124	0.08802	0.2453:0.0:0.7547:0.0	.	455	Q86YR5-3	.	P	455	ENSP00000376674:A455P	ENSP00000376674:A455P	A	+	1	0	GPSM1	138355427	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.389000	0.07342	0.176000	0.19873	-0.379000	0.06801	GCA	G|0.900;C|0.100		0.657	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		C	139235606	G	C	139235606	1	2	43	0	1	0	0	0	0	0	0	0	6761	971	34	3		3	GPSM1	9	139235606	Intron	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	332061	139235606	1977825	41	9492											
NOTCH1	4851	broad.mit.edu	37	chr9	139417461	139417462	+	Frame_Shift_Ins	INS	-	-	G													gagccgacctcgttgtggcaINSggtgcctccgtggcggcaaa					rs146350322		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr9:139417461_139417462insG	ENST00000277541.6	-	4	657_658	c.582_583insC	c.(580-585)acctgcfs	p.C195fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	195	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		TCGTTGTGGCAGGTGCCTCCGT	0.698			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.C195fs		.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1-5459	0			c.583_584insC						.																																			SO:0001589	frameshift_variant	4851	exon4			TGTGGCAGGTGCC	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.583dupC	9.37:g.139417463_139417463dupG	ENSP00000277541:p.Cys195fs	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	106	8	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	CCDS43905.1																																																																																			.		0.698	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		G	139417462	-	G	139417461	7	5	43	1	0	1	1	0	0	0	0	0	10586	188	7	0	7208	0	NOTCH1	9	139417461	Frame_Shift_Ins	INS	-	TCGA-OR-A5L3-01A-11D-A29I-10	181855	139417461	1795970	42	9493											
FBXW5	54461	broad.mit.edu	37	chr9	139837138	139837138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacgcgggacagcagcGcgaaggagtctgtggggagg	19	10	1	0	rs148935719	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr9:139837138G>A	ENST00000325285.3	-	5	615	c.536C>T	c.(535-537)gCg>gTg	p.A179V	C8G_ENST00000224181.3_5'Flank|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	179					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGACAGCAGCGCGAAGGAGTC	0.662													G|||	6	0.00119808	0.003	0.0014	5008	,	,		14684	0.001		0	False		,,,				2504	0				p.A179V		.											.	FBXW5-226	0			c.C536T						.	G	VAL/ALA	1,4381		0,1,2190	30	25	27		536	0.2	0.2	9	dbSNP_134	27	17,8571		0,17,4277	yes	missense	FBXW5	NM_018998.2	64	0,18,6467	AA,AG,GG		0.198,0.0228,0.1388	benign	179/567	139837138	18,12952	2191	4294	6485	SO:0001583	missense	54461	exon5			AGCAGCGCGAAGG	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.536C>T	9.37:g.139837138G>A	ENSP00000313034:p.Ala179Val	Somatic	49	3		WXS	Illumina GAIIx	Phase_I	125	5	NM_018998	0	0	0	0	0	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566123	0.27915	2.28E-4	0.00198	ENSG00000159069	ENST00000325285;ENST00000433269;ENST00000428398	T;T;T	0.65732	-0.17;0.91;1.56	4.14	0.22	0.15279	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.374308	0.30584	N	0.009314	T	0.35566	0.0936	L	0.38531	1.155	0.20489	N	0.999894	P	0.44659	0.84	B	0.28385	0.089	T	0.32134	-0.9918	10	0.29301	T	0.29	-18.614	4.0953	0.09988	0.3496:0.0:0.4982:0.1522	.	179	Q969U6	FBXW5_HUMAN	V	179;14;189	ENSP00000313034:A179V;ENSP00000409102:A14V;ENSP00000404829:A189V	ENSP00000313034:A179V	A	-	2	0	FBXW5	138956959	0.895000	0.30542	0.185000	0.23176	0.814000	0.46013	2.511000	0.45476	-0.147000	0.11254	-0.258000	0.10820	GCG	G|0.998;A|0.002		0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		A	139837138	G	A	139837138	3	1	43	1	0	0	0	0	1	0	0	0	5790	1087	38	1	1184	1	FBXW5	9	139837138	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	419677	139837138	1376293	43	9494											
ECHDC3	79746	hgsc.bcm.edu	37	chr10	11784633	11784633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcccatgtgtctccggCgcggcccctgggcccagctc	15	17	1	0	rs11558855	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:11784633C>T	ENST00000379215.4	+	1	269	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	20						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GTGTCTCCGGCGCGGCCCCTG	0.781													C|||	460	0.091853	0.0424	0.1254	5008	,	,		5907	0.0169		0.17	False		,,,				2504	0.1319				p.R20C		.											.	ECHDC3-90	0			c.C58T						.	C	CYS/ARG	141,2883		1,139,1372	2	2	2		58	2	0	10	dbSNP_120	2	838,5418		38,762,2328	no	missense	ECHDC3	NM_024693.4	180	39,901,3700	TT,TC,CC		13.3951,4.6627,10.5496	probably-damaging	20/304	11784633	979,8301	1512	3128	4640	SO:0001583	missense	79746	exon1			CTCCGGCGCGGCC	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.58C>T	10.37:g.11784633C>T	ENSP00000368517:p.Arg20Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024693	0	0	0	0	0	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	CCDS7084.1	266	0.12179487179487179	44	0.08943089430894309	44	0.12154696132596685	31	0.05419580419580419	147	0.19393139841688653	C	16.93	3.258520	0.59321	0.046627	0.133951	ENSG00000134463	ENST00000379215;ENST00000420401	T;T	0.73258	-0.14;-0.73	4.08	2.03	0.26663	.	0.616622	0.16841	N	0.197355	T	0.00144	0.0004	L	0.29908	0.895	0.80722	P	0.0	D	0.69078	0.997	B	0.44315	0.446	T	0.04307	-1.0961	9	0.62326	D	0.03	.	7.364	0.26762	0.1877:0.6294:0.1829:0.0	rs11558855	20	Q96DC8	ECHD3_HUMAN	C	20	ENSP00000368517:R20C;ENSP00000405584:R20C	ENSP00000368517:R20C	R	+	1	0	ECHDC3	11824639	0.021000	0.18746	0.013000	0.15412	0.002000	0.02628	0.149000	0.16243	0.834000	0.34852	-0.326000	0.08463	CGC	C|0.878;T|0.122		0.781	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		T	11784633	C	T	11784633	3	4	43	1	0	0	0	0	1	0	0	0	4909	768	27	1	60	1	ECHDC3	10	11784633	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		11784633	123750114	44	9495											
PTPLA	9200	hgsc.bcm.edu	37	chr10	17659149	17659149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacccccaggcgcctccgctCgccgggagcctcccggtcct	12	21	0	0	rs7895850	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:17659149C>G	ENST00000361271.3	-	1	227	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PTPLA_ENST00000326961.6_Missense_Mutation_p.E64Q	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	64			E -> K (in dbSNP:rs7895850). {ECO:0000269|PubMed:10644438, ECO:0000269|PubMed:11054553, ECO:0000269|PubMed:15489334}.|E -> Q (in dbSNP:rs7895850). {ECO:0000269|PubMed:11054553}.		fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGCCTCCGCTCGCCGGGAGCC	0.766													T|||	543	0.108427	0.0401	0.121	5008	,	,		6575	0.2321		0.1103	False		,,,				2504	0.0624				p.E64Q		.											.	PTPLA-226	0			c.G190C						.	T	LYS/GLN/GLU	2648,64,0		1292,64,0,0,0,0	2	4	4		190	2	0.1	10	dbSNP_116	4	4685,237,0		2230,225,0,6,0,0	no	missense	PTPLA	NM_014241.3	29,56	3522,289,0,6,0,0	TT,TG,TC,GG,GC,CC		4.8151,2.3599,3.9429	benign	64/289	17659149	7333,301,0	1356	2461	3817	SO:0001583	missense	9200	exon1			TCCGCTCGCCGGG	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.190G>C	10.37:g.17659149C>G	ENSP00000355308:p.Glu64Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_014241	0	0	0	0	0	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	T	6.487	0.458102	0.12342	0.023599	0.0481510000000001	ENSG00000165996	ENST00000361271;ENST00000326961	T;T	0.19105	2.75;2.17	3.35	2.04	0.26737	.	0.660756	0.13666	N	0.371221	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.23854	0.092;0.009;0.007	B;B;B	0.12837	0.008;0.001;0.002	T	0.33137	-0.9880	10	0.24483	T	0.36	-20.0823	3.214	0.06692	0.0:0.1393:0.2442:0.6165	.	64;64;64	A6NP58;B0YJ81-2;B0YJ81	.;.;HACD1_HUMAN	Q	64	ENSP00000355308:E64Q;ENSP00000322923:E64Q	ENSP00000322923:E64Q	E	-	1	0	PTPLA	17699155	1.000000	0.71417	0.050000	0.19076	0.003000	0.03518	1.138000	0.31491	0.439000	0.26476	-0.381000	0.06696	GAG	C|0.007;G|0.002;T|0.991		0.766	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		G	17659149	C	G	17659149	3	3	43	1	0	0	0	0	1	0	0	0	12817	893	31	2	704	2	PTPLA	10	17659149	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	5874516	17659149	117875598	45	9496											
SLC25A16	8034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70243288	70243288	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaagagataaaccacgataGagtccttttcgaattccatg	7	8	0	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:70243288G>C	ENST00000609923.1	-	9	998	c.900C>G	c.(898-900)ctC>ctG	p.L300L	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.L202L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	300					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						AACCACGATAGAGTCCTTTTC	0.388																																					p.L300L		.											.	SLC25A16-90	0			c.C900G						.						155	152	153					10																	70243288		2203	4300	6503	SO:0001819	synonymous_variant	8034	exon9			ACGATAGAGTCCT	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.900C>G	10.37:g.70243288G>C		Somatic	38	0		WXS	Illumina GAIIx	Phase_I	51	12	NM_152707	0	0	0	1	1	Q8N2U1	Silent	SNP	ENST00000609923.1	37	CCDS7280.1																																																																																			.		0.388	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			C	70243288	G	C	70243288	2	2	43	1	0	0	0	0	0	0	0	1	14523	929	33	3		3	SLC25A16	10	70243288	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	52584139	70243288	65291459	46	9497											
ACADSB	36	bcgsc.ca	37	chr10	124800853	124800853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatcagcagtgctgagcaCgcagggctctttctggtgat	14	9	3	2	rs1140591	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:124800853C>T	ENST00000358776.4	+	5	653	c.639C>T	c.(637-639)caC>caT	p.H213H	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Silent_p.H111H	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	213					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GTGCTGAGCACGCAGGGCTCT	0.413													C|||	1141	0.227835	0.2163	0.2176	5008	,	,		17755	0.1419		0.2296	False		,,,				2504	0.3374				p.H213H		.											.	ACADSB-92	0			c.C639T						.	C		950,3456	362.1+/-316.0	103,744,1356	143	138	139		639	-9.7	0	10	dbSNP_86	139	2017,6583	353.4+/-329.1	222,1573,2505	no	coding-synonymous	ACADSB	NM_001609.3		325,2317,3861	TT,TC,CC		23.4535,21.5615,22.8125		213/433	124800853	2967,10039	2203	4300	6503	SO:0001819	synonymous_variant	36	exon5			TGAGCACGCAGGG	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.639C>T	10.37:g.124800853C>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	83	4	NM_001609	0	0	0	0	0	B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	CCDS7634.1																																																																																			A|0.000;C|0.783;G|0.000;T|0.217		0.413	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		T	124800853	C	T	124800853	2	4	43	1	0	0	0	0	0	0	0	1	115	535	19	1		1	ACADSB	10	124800853	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	54557565	124800853	10733894	47	9498											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219036	134219036	+	Silent	SNP	G	G	A													caccgtctgggggacagcgaGcacgagcccgtgtaccgggc					rs11817589	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:134219036G>A	ENST00000305233.5	+	2	1091	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	PWWP2B_ENST00000368609.4_Silent_p.E344E	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	344										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGACAGCGAGCACGAGCCCG	0.726													G|||	516	0.103035	0.1241	0.0908	5008	,	,		12864	0.0813		0.0875	False		,,,				2504	0.1217				p.E344E		.											.	PWWP2B-90	0			c.G1032A						.	G	,	353,3895		15,323,1786	15	19	18		1032,1032	4.5	0	10	dbSNP_120	18	549,7817		13,523,3647	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	28,846,5433	AA,AG,GG		6.5623,8.3098,7.1508	,	344/500,344/591	134219036	902,11712	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CAGCGAGCACGAG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1032G>A	10.37:g.134219036G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_001098637	0	0	2	2	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			G|0.909;A|0.091		0.726	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		A	134219036	G	A	134219036	2	1	43	1	0	0	0	0	0	0	0	1	12891	962	34	3		3	PWWP2B	10	134219036	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	9418183	134219036	1315711	48	9499	93	2									
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219045	134219045	+	Silent	SNP	C	C	T													ggggacagcgagcacgagccCgtgtaccgggccgagctggt					rs11146364	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16	21	20		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	8	NM_001098637	0	0	2	2	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219045	C	T	134219045	2	4	43	1	0	0	0	0	0	0	0	1	12891	639	23	1		1	PWWP2B	10	134219045	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	9	134219045	1315702	49	9500	93	2									
PHLDA2	7262	broad.mit.edu	37	chr11	2950513	2950513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaggtgagcaccccgcGcttcttcttccatagctgga	12	13	2	1	rs554708054		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr11:2950513G>T	ENST00000314222.4	-	1	172	c.82C>A	c.(82-84)Cgc>Agc	p.R28S		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	28	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R28S(1)		central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACCCCGCGCTTCTTCTTC	0.672																																					p.R28S		.											.	PHLDA2-514	1	Substitution - Missense(1)	central_nervous_system(1)	c.C82A						.						18	20	19					11																	2950513		2199	4297	6496	SO:0001583	missense	7262	exon1			CCCCGCGCTTCTT	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.82C>A	11.37:g.2950513G>T	ENSP00000319231:p.Arg28Ser	Somatic	19	1		WXS	Illumina GAIIx	Phase_I	83	7	NM_003311	0	0	0	0	0	O00496	Missense_Mutation	SNP	ENST00000314222.4	37	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727508	0.69074	.	.	ENSG00000181649	ENST00000314222	T	0.45668	0.89	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.303419	0.25124	U	0.032956	T	0.43055	0.1230	M	0.66939	2.045	0.40575	D	0.98133	P	0.43578	0.811	B	0.39771	0.309	T	0.53507	-0.8429	10	0.44086	T	0.13	-19.9369	15.3955	0.74790	0.0:0.0:1.0:0.0	.	28	Q53GA4	PHLA2_HUMAN	S	28	ENSP00000319231:R28S	ENSP00000319231:R28S	R	-	1	0	PHLDA2	2907089	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.678000	0.46900	1.660000	0.50760	0.313000	0.20887	CGC	.		0.672	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		T	2950513	G	T	2950513	3	4	43	1	0	0	0	0	1	0	0	0	11888	1087	38	2	380	2	PHLDA2	11	2950513	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10		2950513	132056003	50	9501											
NTF3	4908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	5604093	5604093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataaactcgtgggctggcGgtggatacggatagacacgt	14	8	0	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr12:5604093G>A	ENST00000331010.6	+	1	796	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R251Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	238					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						GTGGGCTGGCGGTGGATACGG	0.438																																					p.R251Q	GBM(194;1104 2182 8339 9578 18493)	.											.	NTF3-205	0			c.G752A						.						62	51	55					12																	5604093		2203	4300	6503	SO:0001583	missense	4908	exon2			GCTGGCGGTGGAT		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.713G>A	12.37:g.5604093G>A	ENSP00000328738:p.Arg238Gln	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	79	24	NM_001102654	0	0	0	0	0	B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262794	0.80358	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.74947	-0.89;-0.89	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.107611	0.64402	D	0.000016	D	0.83686	0.5308	M	0.63428	1.95	0.47949	D	0.999556	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.85236	0.1035	10	0.87932	D	0	-36.6442	18.2818	0.90101	0.0:0.0:1.0:0.0	.	238;251	P20783;B7Z1T5	NTF3_HUMAN;.	Q	251;238	ENSP00000397297:R251Q;ENSP00000328738:R238Q	ENSP00000328738:R238Q	R	+	2	0	NTF3	5474354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.672000	0.74477	2.583000	0.87209	0.650000	0.86243	CGG	.		0.438	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			A	5604093	G	A	5604093	3	1	43	1	0	0	0	0	1	0	0	0	10735	1116	39	1	758	1	NTF3	12	5604093	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10		5604093	128247802	51	9502											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6174404	6174404	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatctgttgtcaaagcTcttgaagtgtgattgacctg	11	6	3	3			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr12:6174404T>A	ENST00000261405.5	-	11	1446	c.1192A>T	c.(1192-1194)Agc>Tgc	p.S398C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	398	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			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)	TTGTCAAAGCTCTTGAAGTGT	0.552																																					p.S398C		.											.	VWF-163	0			c.A1192T						.						98	91	93					12																	6174404		2203	4300	6503	SO:0001583	missense	7450	exon11			CAAAGCTCTTGAA		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.1192A>T	12.37:g.6174404T>A	ENSP00000261405:p.Ser398Cys	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	170	57	NM_000552	0	0	3	3	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357325	0.82243	.	.	ENSG00000110799	ENST00000261405	T	0.60040	0.22	4.98	4.98	0.66077	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	0.000000	0.47852	D	0.000217	T	0.79155	0.4398	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83631	0.0145	10	0.87932	D	0	.	14.0025	0.64442	0.0:0.0:0.0:1.0	.	398;398	B4DNX0;P04275	.;VWF_HUMAN	C	398	ENSP00000261405:S398C	ENSP00000261405:S398C	S	-	1	0	VWF	6044665	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.738000	0.68613	2.093000	0.63338	0.459000	0.35465	AGC	.		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6174404	T	A	6174404	3	1	43	1	0	0	0	0	1	0	0	0	17295	1551	54	5	7417	5	VWF	12	6174404	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	570311	6174404	127677491	52	9503											
KRT72	140807	hgsc.bcm.edu	37	chr12	52995020	52995020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcggtgcccacgaagcCgcccaggcggccgccgcccc	15	19	0	0	rs57242225	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr12:52995020C>T	ENST00000537672.2	-	1	227	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	KRT72_ENST00000293745.2_Missense_Mutation_p.G73S|KRT72_ENST00000354310.4_Missense_Mutation_p.G73S|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	73	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCACGAAGCCGCCCAGGCGG	0.736													C|||	403	0.0804712	0.1982	0.0591	5008	,	,		11657	0.0218		0.0477	False		,,,				2504	0.0307				p.G73S		.											.	KRT72-96	0			c.G217A						.	C	SER/GLY,SER/GLY,SER/GLY	641,3687		54,533,1577	7	8	8		217,217,217	3.1	0.9	12	dbSNP_129	8	378,8070		10,358,3856	no	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	56,56,56	64,891,5433	TT,TC,CC		4.4744,14.8105,7.9759	benign,benign,benign	73/512,73/470,73/512	52995020	1019,11757	2164	4224	6388	SO:0001583	missense	140807	exon1			CGAAGCCGCCCAG	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.217G>A	12.37:g.52995020C>T	ENSP00000441160:p.Gly73Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_001146225	0	0	0	0	0	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	164	0.07509157509157509	90	0.18292682926829268	26	0.0718232044198895	14	0.024475524475524476	34	0.044854881266490766	C	15.85	2.954785	0.53293	0.148105	0.044744	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310	D;D;D	0.83992	-1.79;-1.79;-1.79	3.98	3.09	0.35607	.	0.434068	0.19516	N	0.112389	T	0.00412	0.0013	M	0.70108	2.13	0.09310	P	0.9999999999977768	P;P	0.38110	0.618;0.618	B;B	0.34180	0.177;0.115	T	0.34650	-0.9820	9	0.37606	T	0.19	.	2.8374	0.05519	0.1474:0.5413:0.1432:0.1681	rs57242225;rs61747193	73;73	B4DEI8;Q14CN4	.;K2C72_HUMAN	S	73	ENSP00000441160:G73S;ENSP00000293745:G73S;ENSP00000346269:G73S	ENSP00000293745:G73S	G	-	1	0	KRT72	51281287	0.388000	0.25197	0.851000	0.33527	0.989000	0.77384	0.532000	0.23067	1.269000	0.44280	0.561000	0.74099	GGC	C|0.921;T|0.079		0.736	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52995020	C	T	52995020	3	4	43	1	0	0	0	0	1	0	0	0	8512	652	23	1	1354	1	KRT72	12	52995020	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	46820616	52995020	80856875	53	9504											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187919	117187919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccatttccaccatggCggccaccgcgggggctccct	10	19	0	0	rs116754010	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr12:117187919C>T	ENST00000257575.4	+	4	590	c.357C>T	c.(355-357)ggC>ggT	p.G119G	RNFT2_ENST00000392549.2_Silent_p.G119G|RNFT2_ENST00000407967.3_Silent_p.G119G|RNFT2_ENST00000319176.7_Silent_p.G119G			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	119	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCCACCATGGCGGCCACCGCG	0.751													C|||	314	0.0626997	0.1452	0.0144	5008	,	,		11841	0.0208		0.0159	False		,,,				2504	0.0767				p.G119G		.											.	.	0			c.C357T						.	C	,	436,3370		21,394,1488	4	4	4		357,357	-7.2	0	12	dbSNP_132	4	155,7571		1,153,3709	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	22,547,5197	TT,TC,CC		2.0062,11.4556,5.1249	,	119/445,119/421	117187919	591,10941	1903	3863	5766	SO:0001819	synonymous_variant	84900	exon4			CCATGGCGGCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.357C>T	12.37:g.117187919C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			C|0.954;T|0.046		0.751	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		T	117187919	C	T	117187919	2	4	43	1	0	0	0	0	0	0	0	1	13547	755	27	1		1	RNFT2	12	117187919	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	64192899	117187919	16663976	54	9505											
OR4K5	79317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20389141	20389141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatgacaggtatgtagccAtatgcaaacccttatactat	6	10	0	1	rs200386813		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr14:20389141A>C	ENST00000315915.4	+	1	401	c.376A>C	c.(376-378)Ata>Cta	p.I126L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTATGTAGCCATATGCAAACC	0.453																																					p.I126L		.											.	OR4K5-70	0			c.A376C						.						227	226	226					14																	20389141		2203	4300	6503	SO:0001583	missense	79317	exon1			GTAGCCATATGCA	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.376A>C	14.37:g.20389141A>C	ENSP00000319511:p.Ile126Leu	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	259	42	NM_001005483	0	0	0	0	0	Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.728926	0.69074	.	.	ENSG00000176281	ENST00000315915	T	0.57595	0.39	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.82153	0.4975	H	0.99590	4.645	0.35418	D	0.793038	D	0.71674	0.998	D	0.64595	0.927	D	0.91203	0.4993	10	0.72032	D	0.01	.	11.614	0.51078	1.0:0.0:0.0:0.0	.	126	Q8NGD3	OR4K5_HUMAN	L	126	ENSP00000319511:I126L	ENSP00000319511:I126L	I	+	1	0	OR4K5	19458981	0.988000	0.35896	0.999000	0.59377	0.733000	0.41908	3.025000	0.49681	1.838000	0.53458	0.533000	0.62120	ATA	A|0.999;G|0.001		0.453	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		C	20389141	A	C	20389141	3	2	43	1	0	0	0	0	1	0	0	0	11112	217	8	5	378	5	OR4K5	14	20389141	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10		20389141	86960399	55	9506											
HECTD1	25831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	31647449	31647449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctggtaagaaagtgCgaggaggacatctgtagtga	16	4	1	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr14:31647449C>T	ENST00000399332.1	-	3	640	c.152G>A	c.(151-153)cGc>cAc	p.R51H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R51H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	51					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAAGAAAGTGCGAGGAGGACA	0.333																																					p.R51H		.											.	HECTD1-570	0			c.G152A						.						60	55	57					14																	31647449		1848	4083	5931	SO:0001583	missense	25831	exon3			AAAGTGCGAGGAG	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.152G>A	14.37:g.31647449C>T	ENSP00000382269:p.Arg51His	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	40	13	NM_015382	0	0	0	0	0	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499125	0.96355	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33654	1.4;1.4;1.4	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.82923	2.615	0.80722	D	1	D	0.54047	0.964	B	0.35240	0.198	T	0.60515	-0.7248	10	0.72032	D	0.01	-6.3741	18.8815	0.92357	0.0:1.0:0.0:0.0	.	51	Q9ULT8	HECD1_HUMAN	H	51	ENSP00000450697:R51H;ENSP00000382269:R51H;ENSP00000452015:R51H	ENSP00000261312:R51H	R	-	2	0	HECTD1	30717200	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.743000	0.68655	2.532000	0.85374	0.484000	0.47621	CGC	.		0.333	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31647449	C	T	31647449	3	4	43	1	0	0	0	0	1	0	0	0	7066	768	27	1	7844	1	HECTD1	14	31647449	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	11258308	31647449	75702091	56	9507											
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	76219245	76219245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcttttcaggtcctacctCgagcataagacctcaatgaa	7	11	2	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr14:76219245C>T	ENST00000298832.9	+	18	1702	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000556893.1_Silent_p.L37L|TTLL5_ENST00000557636.1_Silent_p.L513L	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	499					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.L499L(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCTACCTCGAGCATAAGA	0.368																																					p.L499L		.											.	TTLL5-92	1	Substitution - coding silent(1)	lung(1)	c.C1497T						.						114	106	109					14																	76219245		2203	4300	6503	SO:0001819	synonymous_variant	23093	exon18			CTACCTCGAGCAT	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1497C>T	14.37:g.76219245C>T		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	35	12	NM_015072	0	0	0	0	0	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1																																																																																			.		0.368	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		T	76219245	C	T	76219245	2	4	43	1	0	0	0	0	0	0	0	1	16779	871	31	1		1	TTLL5	14	76219245	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	44571796	76219245	31130295	57	9508											
AMN	81693	hgsc.bcm.edu;broad.mit.edu	37	chr14	103396993	103396994	+	In_Frame_Ins	INS	-	-	GCCGGG													acttcgtcaaccctctgttcINSgccggggccgaggccgaggc					rs58093397|rs36040113	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr14:103396993_103396994insGCCGGG	ENST00000299155.5	+	12	1371_1372	c.1338_1339insGCCGGG	c.(1339-1341)gcc>GCCGGGgcc	p.447_447A>AGA	RP11-365N19.2_ENST00000560931.1_RNA	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	447					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCTCTGTTCGCCGGGGCCGA	0.713														70	0.0139776	0.0408	0.0115	5008	,	,		11705	0		0.005	False		,,,				2504	0.0031				p.F446delinsFAG		.											.	AMN-90	0			c.1338_1339insGCCGGG						.			123,4009		8,107,1951						-4.1	0		dbSNP_126	12	51,8009		3,45,3982	no	coding	AMN	NM_030943.3		11,152,5933	A1A1,A1R,RR		0.6328,2.9768,1.4272				174,12018				SO:0001652	inframe_insertion	81693	exon12			TCTGTTCGCCGGG	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.1339_1344dupGCCGGG	14.37:g.103396994_103396999dupGCCGGG	Exception_encountered	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	76	14	NM_030943	0	0	0	0	0	Q6UX83	In_Frame_Ins	INS	ENST00000299155.5	37	CCDS9977.1																																																																																			-|1.000;|0.000		0.713	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			GCCGGG	103396994	-	GCCGGG	103396993	7	5	43	1	0	1	1	0	0	0	0	0	580	883	31	0	1384	0	AMN	14	103396993	In_Frame_Ins	INS	-	TCGA-OR-A5L3-01A-11D-A29I-10	27177748	103396993	3952547	58	9509											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	43	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	1247106	104644099	2705441	59	9510											
OR4N4	283694	bcgsc.ca	37	chr15	22382897	22382897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccctagagcctgctAtgcaatgatgttggctctgt	10	10	1	3	rs62006710	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr15:22382897A>G	ENST00000328795.4	+	1	516	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAGCCTGCTATGCAATGATG	0.547																																					p.Y142C		.											.	OR4N4-73	0			c.A425G						.	A	CYS/TYR	268,4114		12,244,1935	171	148	156		425	3.4	0.3	15	dbSNP_129	156	2142,6382		180,1782,2300	yes	missense	OR4N4	NM_001005241.2	194	192,2026,4235	GG,GA,AA		25.129,6.1159,18.6735	benign	142/317	22382897	2410,10496	2191	4262	6453	SO:0001583	missense	283694	exon1			CCTGCTATGCAAT	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.425A>G	15.37:g.22382897A>G	ENSP00000332500:p.Tyr142Cys	Somatic	131	1		WXS	Illumina GAIIx	Phase_I	184	7	NM_001005241	0	0	0	0	0	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	381	0.17445054945054944	11	0.022357723577235773	47	0.1298342541436464	112	0.1958041958041958	211	0.2783641160949868	.	0.058	-1.230687	0.01518	0.061159	0.25129	ENSG00000183706	ENST00000328795	T	0.37752	1.18	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.318652	0.22853	N	0.054825	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.12837	0.008	T	0.30416	-0.9979	9	0.38643	T	0.18	-2.5262	5.3395	0.15976	0.8666:0.0:0.1334:0.0	rs62006710	142	Q8N0Y3	OR4N4_HUMAN	C	142	ENSP00000332500:Y142C	ENSP00000332500:Y142C	Y	+	2	0	OR4N4	19884261	0.000000	0.05858	0.343000	0.25615	0.236000	0.25371	-0.730000	0.04915	1.522000	0.49001	0.332000	0.21555	TAT	A|0.815;G|0.185		0.547	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			G	22382897	A	G	22382897	3	3	43	1	0	0	0	0	1	0	0	0	11117	449	16	4	427	4	OR4N4	15	22382897	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10		22382897	80148495	60	9511											
DISP2	85455	hgsc.bcm.edu	37	chr15	40660192	40660192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgggcacggctgtgCtggtgcacctggcgctcacg	14	13	3	0	rs8040755	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225				p.L627L		.											.	DISP2-92	0			c.C1879T						.	C		81,4189		0,81,2054	5	5	5		1879	5.6	1	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455	exon8			GCTGTGCTGGTGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1879C>T	15.37:g.40660192C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_033510	0	0	0	0	0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			C|0.941;T|0.059		0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40660192	C	T	40660192	2	4	43	1	0	0	0	0	0	0	0	1	4554	796	28	3		3	DISP2	15	40660192	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	18277295	40660192	61871200	61	9512											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	43	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	22753891	63414083	39117309	62	9513											
CHD2	1106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	93521561	93521561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgactggaacccccAgaatgacttgcaggcacaag	10	12	1	4			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr15:93521561A>G	ENST00000394196.4	+	21	3743	c.2675A>G	c.(2674-2676)cAg>cGg	p.Q892R	CHD2_ENST00000557381.1_Missense_Mutation_p.Q892R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	892	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			TGGAACCCCCAGAATGACTTG	0.532																																					p.Q892R		.											.	CHD2-229	0			c.A2675G						.						96	88	91					15																	93521561		2197	4298	6495	SO:0001583	missense	1106	exon21			ACCCCCAGAATGA	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.2675A>G	15.37:g.93521561A>G	ENSP00000377747:p.Gln892Arg	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	45	11	NM_001271	0	0	0	0	0	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.793290	0.90453	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.95447	-3.71;-3.71	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.32769	U	0.005678	D	0.98523	0.9507	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.87578	0.998;0.952;0.996	D	0.99737	1.1014	10	0.87932	D	0	-27.3567	16.1832	0.81925	1.0:0.0:0.0:0.0	.	892;892;892	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	R	892	ENSP00000377747:Q892R;ENSP00000451366:Q892R	ENSP00000377747:Q892R	Q	+	2	0	CHD2	91322565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.228000	0.72767	0.533000	0.62120	CAG	.		0.532	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		G	93521561	A	G	93521561	3	3	43	1	0	0	0	0	1	0	0	0	3332	188	7	4	2757	4	CHD2	15	93521561	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	30107478	93521561	9009831	63	9514											
CLEC16A	23274	bcgsc.ca	37	chr16	11114170	11114170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctgctctgagagcaCgcaatggagcaggtagctgc	13	13	1	1	rs74163614		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:11114170C>T	ENST00000409790.1	+	12	1654	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.T457M	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGAGAGCACGCAATGGAGC	0.642													C|||	1	0.000199681	0	0	5008	,	,		21022	0		0.001	False		,,,				2504	0				p.T475M		.											.	CLEC16A-92	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C1424T						.	C	MET/THR	0,3976		0,0,1988	17	21	20		1424	0	0.1	16	dbSNP_130	20	9,8343		0,9,4167	yes	missense	CLEC16A	NM_015226.2	81	0,9,6155	TT,TC,CC		0.1078,0.0,0.073	benign	475/1054	11114170	9,12319	1988	4176	6164	SO:0001583	missense	23274	exon11			AGAGCACGCAATG	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1424C>T	16.37:g.11114170C>T	ENSP00000387122:p.Thr475Met	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	121	5	NM_015226	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	7.342	0.621111	0.14193	0.0	0.001078	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44881	0.91	5.38	-0.0299	0.13916	.	1.392810	0.04271	N	0.342130	T	0.38639	0.1048	L	0.36672	1.1	0.09310	N	1	B;D	0.55800	0.406;0.973	B;P	0.45449	0.128;0.481	T	0.41787	-0.9489	10	0.48119	T	0.1	-1.5357	9.2197	0.37368	0.0:0.6909:0.0:0.3091	.	475;457	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	M	475;475;457	ENSP00000387122:T475M	ENSP00000386495:T457M	T	+	2	0	CLEC16A	11021671	0.000000	0.05858	0.083000	0.20561	0.069000	0.16628	-0.090000	0.11163	0.029000	0.15352	0.555000	0.69702	ACG	C|0.999;T|0.001		0.642	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11114170	C	T	11114170	3	4	43	1	0	0	0	0	1	0	0	0	3507	536	19	1	1466	1	CLEC16A	16	11114170	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		11114170	79240583	64	9515											
NOMO1	23420	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	14988885	14988885	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacaggacatcgcacaaGgatcctacattgccctgcca	8	14	0	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:14988885G>T	ENST00000287667.7	+	30	3646	c.3475G>T	c.(3475-3477)Gga>Tga	p.G1159*		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1159						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CATCGCACAAGGATCCTACAT	0.557																																					p.G1159X		.											.	NOMO1-45	0			c.G3475T						.						122	116	118					16																	14988885		2196	4296	6492	SO:0001587	stop_gained	23420	exon30			GCACAAGGATCCT	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3475G>T	16.37:g.14988885G>T	ENSP00000287667:p.Gly1159*	Somatic	2184	4		WXS	Illumina GAIIx	Phase_I	2445	348	NM_014287	0	0	181	182	1	P78421|Q8IW21|Q96DG0	Nonsense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	G	42	9.284943	0.99125	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	.	.	.	2.96	2.96	0.34315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-11.9333	11.776	0.51985	0.0:0.0:1.0:0.0	.	.	.	.	X	1159;1159;992	.	ENSP00000287667:G1159X	G	+	1	0	NOMO1	14896386	1.000000	0.71417	0.943000	0.38184	0.903000	0.53119	8.562000	0.90719	1.649000	0.50652	0.384000	0.25694	GGA	.		0.557	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			T	14988885	G	T	14988885	4	4	43	1	0	0	0	0	0	1	0	0	10570	1001	35	3	3593	3	NOMO1	16	14988885	Nonsense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	3874715	14988885	75365868	65	9516											
MYH11	4629	hgsc.bcm.edu;ucsc.edu	37	chr16	15809040	15809040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctccttgtactgctcgGccatcttgcgctcgtcctcc	8	18	1	0			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:15809040G>T	ENST00000300036.5	-	39	5703	c.5594C>A	c.(5593-5595)gCc>gAc	p.A1865D	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.A1865D|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1872D|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1872D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1865					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTACTGCTCGGCCATCTTGCG	0.622			T	CBFB	AML																																p.A1872D		.		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	MYH11-666	0			c.C5615A						.						91	86	88					16																	15809040		2197	4300	6497	SO:0001583	missense	4629	exon40			TGCTCGGCCATCT	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5594C>A	16.37:g.15809040G>T	ENSP00000300036:p.Ala1865Asp	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	40	4	NM_001040114	0	0	0	0	0	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299689	0.60195	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.75	3.78	0.43462	Myosin tail (1);	0.062950	0.64402	D	0.000006	D	0.87755	0.6257	M	0.86420	2.815	0.58432	D	0.999995	P;B;B;B;B	0.37015	0.578;0.403;0.403;0.403;0.275	P;P;P;P;P	0.55455	0.673;0.776;0.776;0.776;0.551	D	0.88385	0.3004	10	0.72032	D	0.01	.	12.3742	0.55271	0.084:0.0:0.916:0.0	.	1872;1865;1872;1865;1872	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	1865;1865;1872;1872;1872	ENSP00000300036:A1865D;ENSP00000345136:A1865D;ENSP00000379616:A1872D;ENSP00000407821:A1872D	ENSP00000300036:A1865D	A	-	2	0	MYH11	15716541	1.000000	0.71417	0.760000	0.31359	0.983000	0.72400	5.466000	0.66731	0.956000	0.37904	0.455000	0.32223	GCC	.		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		T	15809040	G	T	15809040	3	4	43	1	0	0	0	0	1	0	0	0	10069	1203	42	3	371	3	MYH11	16	15809040	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	820155	15809040	74545713	66	9517											
IRX3	79191	hgsc.bcm.edu	37	chr16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggagagcgggtgcAggcgggggccgggcggtggg	25	9	0	1	rs1450355	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1		1	False		,,,				2504	1				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1	2	2		1265	2.5	1	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_024336	0	0	0	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54318528	A	G	54318528	3	3	43	1	0	0	0	0	1	0	0	0	7872	188	7	4	252	4	IRX3	16	54318528	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	38509488	54318528	36036225	67	9518											
CDT1	81620	bcgsc.ca	37	chr16	88872511	88872511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagctggtggagcaTgtcaaggagcaccacaaggt	14	9	1	1	rs510862	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:88872511T>C	ENST00000301019.4	+	6	1534	c.915T>C	c.(913-915)caT>caC	p.H305H		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TGGTGGAGCATGTCAAGGAGC	0.657													C|||	4358	0.870208	0.9864	0.7767	5008	,	,		18252	0.8819		0.7753	False		,,,				2504	0.865				p.H305H	Melanoma(159;511 3380 30971)	.											.	CDT1-227	0			c.T915C						.	C		4184,200		2001,182,9	23	23	23		915	-10.2	0	16	dbSNP_83	23	6810,1776		2692,1426,175	no	coding-synonymous	CDT1	NM_030928.3		4693,1608,184	CC,CT,TT		20.6848,4.562,15.2352		305/547	88872511	10994,1976	2192	4293	6485	SO:0001819	synonymous_variant	81620	exon6			GGAGCATGTCAAG	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.915T>C	16.37:g.88872511T>C		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_030928	0	0	0	0	0		Silent	SNP	ENST00000301019.4	37	CCDS32510.1																																																																																			T|0.145;C|0.855		0.657	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		C	88872511	T	C	88872511	2	2	43	1	0	0	0	0	0	0	0	1	3187	1461	51	4		4	CDT1	16	88872511	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	34553983	88872511	1482242	68	9519											
C16orf3	2622	bcgsc.ca	37	chr16	90095596	90095597	+	Intron	DNP	AT	AT	GC													ggcagcttacggggcaggctAtggggcagcctacggggcag					rs61118444|rs55742939|rs71137702	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																					p.I52A		.											.	C16orf3-90	0			c.A154G						.																																			SO:0001627	intron_variant	750	exon1			AGGCTATGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	60	0	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	DNP	ENST00000268699.4	37	CCDS10992.1																																																																																			T|0.361;C|0.639		0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	43	0	1	0	0	0	0	0	0	0	1817	449	16	4		4	C16orf3	16	90095596	Intron	DNP	AT	TCGA-OR-A5L3-01A-11D-A29I-10	1223085	90095596	259157	69	9520											
FLCN	201163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	17131266	17131266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctggccccctctgcgggGctgtgcgcacgcatccgact	13	17	1	0			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr17:17131266G>T	ENST00000285071.4	-	4	640	c.186C>A	c.(184-186)agC>agA	p.S62R	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.S62R	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	62					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCTCTGCGGGGCTGTGCGCAC	0.607									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																												p.S62R		.											.	FLCN-1292	0			c.C186A						.						93	79	84					17																	17131266		2203	4300	6503	SO:0001583	missense	201163	exon4	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	TGCGGGGCTGTGC	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.186C>A	17.37:g.17131266G>T	ENSP00000285071:p.Ser62Arg	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	196	69	NM_144997	0	0	0	0	0	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635260	0.47049	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064;ENST00000389168;ENST00000389171	D;D;D	0.92699	-3.09;-2.93;-1.84	5.54	3.56	0.40772	.	0.041112	0.85682	D	0.000000	D	0.91875	0.7428	L	0.40543	1.245	0.45791	D	0.998672	P;D;B	0.63880	0.893;0.993;0.232	P;P;B	0.59424	0.578;0.857;0.102	D	0.89384	0.3684	10	0.34782	T	0.22	-8.3086	11.3389	0.49520	0.1467:0.0:0.8533:0.0	.	62;62;62	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	R	62;62;9;62;62	ENSP00000285071:S62R;ENSP00000373821:S62R;ENSP00000410410:S9R	ENSP00000285071:S62R	S	-	3	2	FLCN	17071991	1.000000	0.71417	0.999000	0.59377	0.223000	0.24884	2.560000	0.45896	0.715000	0.32103	-0.136000	0.14681	AGC	.		0.607	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		T	17131266	G	T	17131266	3	4	43	1	0	0	0	0	1	0	0	0	5943	1194	42	3	1755	3	FLCN	17	17131266	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10		17131266	64063944	70	9521											
ULK2	9706	hgsc.bcm.edu	37	chr17	19770717	19770718	+	In_Frame_Ins	INS	-	-	CCA													cttgctgtactcgaagtcacINSccaccacctccatggccgcg							TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr17:19770717_19770718insCCA	ENST00000395544.4	-	1	512_513	c.13_14insTGG	c.(13-15)ggt>gTGGgt	p.4_5insV	ULK2_ENST00000361658.2_In_Frame_Ins_p.4_5insV	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	4					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTCGAAGTCACCCACCACCTCC	0.767																																					p.G5delinsVG		.											.	ULK2-334	0			c.14_15insTGG						.																																			SO:0001652	inframe_insertion	9706	exon1			AAGTCACCCACCA	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.11_13dupTGG	17.37:g.19770721_19770723dupCCA	ENSP00000378914:p.Val4_Val4dup	Somatic	8	2		WXS	Illumina GAIIx	Phase_I	43	13	NM_014683	0	0	0	0	0	A8MY69|O75119	In_Frame_Ins	INS	ENST00000395544.4	37	CCDS11213.1																																																																																			.		0.767	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		CCA	19770718	-	CCA	19770717	7	5	43	1	0	1	1	0	0	0	0	0	17025	507	18	0	3204	0	ULK2	17	19770717	In_Frame_Ins	INS	-	TCGA-OR-A5L3-01A-11D-A29I-10	2639451	19770717	61424493	71	9522											
KRTAP4-5	85289	hgsc.bcm.edu	37	chr17	39305774	39305775	+	In_Frame_Ins	INS	-	-	TGGCAGCAGCTGGGG													tggtcctgcagcaggtggtcINStggcagcagcaggggcggca					rs137947981|rs535144703|rs141265645|rs58117746	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr17:39305774_39305775insTGGCAGCAGCTGGGG	ENST00000343246.4	-	1	279_280	c.245_246insCCCCAGCTGCTGCCA	c.(244-246)cag>caCCCCAGCTGCTGCCAg	p.81_82insHPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagca	0.653																																					p.Q82delinsHPSCCQ		.											.	KRTAP4-5-90	1	Substitution - Missense(1)	lung(1)	c.246_247insCCCCAGCTGCTGCCA						.																																			SO:0001652	inframe_insertion	85289	exon1			GGTGGTCTGGCAG	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245_246insCCCCAGCTGCTGCCA	17.37:g.39305774_39305775insTGGCAGCAGCTGGGG	ENSP00000340546:p.Cys81_Gln82insHisProSerCysCys	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	75	59	NM_033188	0	0	0	0	0		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			TGGCAGCAGCTGGGG	39305775	-	TGGCAGCAGCTGGGG	39305774	7	5	43	1	0	1	1	0	0	0	0	0	8582	912	32	0	303	0	KRTAP4-5	17	39305774	In_Frame_Ins	INS	-	TCGA-OR-A5L3-01A-11D-A29I-10	19535057	39305774	41889436	72	9523											
EIF1	10209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39847059	39847059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctaaggacgatcagcTgaaggttcatgggttttaag	13	6	2	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr17:39847059T>C	ENST00000469257.1	+	4	469	c.323T>C	c.(322-324)cTg>cCg	p.L108P	JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Missense_Mutation_p.L108P|EIF1_ENST00000310837.4_3'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	108					dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GACGATCAGCTGAAGGTTCAT	0.438																																					p.L108P	Pancreas(176;1692 2837 16734 17588)	.											.	EIF1-90	0			c.T323C						.						155	141	145					17																	39847059		2203	4300	6503	SO:0001583	missense	10209	exon4			ATCAGCTGAAGGT	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.323T>C	17.37:g.39847059T>C	ENSP00000419449:p.Leu108Pro	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	126	48	NM_005801	0	0	734	1395	661	Q9UNQ9	Missense_Mutation	SNP	ENST00000469257.1	37	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310226	0.81358	.	.	ENSG00000173812	ENST00000469257	T	0.32753	1.44	5.37	5.37	0.77165	Translation initiation factor SUI1 (1);	0.000000	0.64402	D	0.000001	T	0.62684	0.2448	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.71751	-0.4498	10	0.72032	D	0.01	-4.6509	14.1017	0.65059	0.0:0.0:0.0:1.0	.	108	P41567	EIF1_HUMAN	P	108	ENSP00000419449:L108P	ENSP00000419449:L108P	L	+	2	0	EIF1	37100585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.961000	0.76042	2.254000	0.74563	0.482000	0.46254	CTG	.		0.438	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801		C	39847059	T	C	39847059	3	2	43	1	0	0	0	0	1	0	0	0	5004	1580	55	4	337	4	EIF1	17	39847059	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	541285	39847059	41348151	73	9524											
SERPINB12	89777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	61223496	61223496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttctctcccctgagccTctcagctgcccttggtatgg	8	14	2	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr18:61223496T>C	ENST00000269491.1	+	1	104	c.104T>C	c.(103-105)cTc>cCc	p.L35P	SERPINB12_ENST00000382768.1_Missense_Mutation_p.L35P	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	35					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CCCCTGAGCCTCTCAGCTGCC	0.443																																					p.L35P		.											.	SERPINB12-227	0			c.T104C						.						220	208	212					18																	61223496		2203	4300	6503	SO:0001583	missense	89777	exon1			TGAGCCTCTCAGC	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.104T>C	18.37:g.61223496T>C	ENSP00000269491:p.Leu35Pro	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	136	51	NM_080474	0	0	0	0	0	Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437444	0.62955	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84516	-1.86;-1.86	5.4	5.4	0.78164	Serpin domain (3);	0.335067	0.25636	N	0.029303	D	0.92770	0.7701	M	0.84511	2.7	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.72338	0.964;0.977	D	0.93895	0.7183	10	0.87932	D	0	.	15.4163	0.74970	0.0:0.0:0.0:1.0	.	35;35	Q3SYB4;Q96P63	.;SPB12_HUMAN	P	35	ENSP00000269491:L35P;ENSP00000372218:L35P	ENSP00000269491:L35P	L	+	2	0	SERPINB12	59374476	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	5.920000	0.70017	2.059000	0.61396	0.533000	0.62120	CTC	.		0.443	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		C	61223496	T	C	61223496	3	2	43	1	0	0	0	0	1	0	0	0	14144	1551	54	4	106	4	SERPINB12	18	61223496	Missense_Mutation	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10		61223496	16853752	74	9525											
CELF5	60680	bcgsc.ca	37	chr19	3224896	3224896	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtgggccagatcccGcggcacctggacgagaagga	14	13	1	2	rs17852497	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:3224896G>C	ENST00000292672.2	+	1	196	c.159G>C	c.(157-159)ccG>ccC	p.P53P	CELF5_ENST00000541430.2_Silent_p.P53P	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCAGATCCCGCGGCACCTGG	0.677													G|||	873	0.174321	0.1104	0.1671	5008	,	,		3684	0.1984		0.2256	False		,,,				2504	0.1881				p.P53P		.											.	CELF5-92	0			c.G159C						.	G	,	632,3772		46,540,1616	21	20	20		159,159	-0.6	0.9	19	dbSNP_123	20	1751,6843		186,1379,2732	no	coding-synonymous,coding-synonymous	CELF5	NM_001172673.1,NM_021938.3	,	232,1919,4348	CC,CG,GG		20.3747,14.3506,18.3336	,	53/410,53/486	3224896	2383,10615	2202	4297	6499	SO:0001819	synonymous_variant	60680	exon1			GATCCCGCGGCAC	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.159G>C	19.37:g.3224896G>C		Somatic	159	2		WXS	Illumina GAIIx	Phase_I	306	11	NM_021938	0	0	0	0	0	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	CCDS12106.1																																																																																			G|0.815;C|0.185		0.677	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		C	3224896	G	C	3224896	2	2	43	1	0	0	0	0	0	0	0	1	3226	1074	38	2		2	CELF5	19	3224896	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10		3224896	55904087	75	9526											
C3	718	bcgsc.ca	37	chr19	6677989	6677989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcattcgtcctcctcGggccagtgctccacccaagt	9	16	1	0	rs17030	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:6677989G>A	ENST00000245907.6	-	41	4988	c.4896C>T	c.(4894-4896)ccC>ccT	p.P1632P	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1632	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)	CGTCCTCCTCGGGCCAGTGCT	0.612													G|||	2669	0.532947	0.497	0.5043	5008	,	,		17315	0.5476		0.5109	False		,,,				2504	0.6094				p.P1632P		.											.	C3-95	0			c.C4896T						.			2193,2213	587.0+/-386.6	542,1109,552	150	118	129		4896	-9.9	0	19	dbSNP_60	129	4445,4155	588.6+/-392.4	1147,2151,1002	no	coding-synonymous	C3	NM_000064.2		1689,3260,1554	AA,AG,GG		48.314,49.773,48.962		1632/1664	6677989	6638,6368	2203	4300	6503	SO:0001819	synonymous_variant	718	exon41			CTCCTCGGGCCAG	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.4896C>T	19.37:g.6677989G>A		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	117	5	NM_000064	0	0	504	504	0	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			G|0.494;A|0.506		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6677989	G	A	6677989	2	1	43	1	0	0	0	0	0	0	0	1	2211	1103	39	1		1	C3	19	6677989	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	3453093	6677989	52450994	76	9527											
UNC13A	23025	bcgsc.ca	37	chr19	17741047	17741047	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggttgagttgggagaaAacatccaccacggagcagga	13	9	1	2	rs10413821	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:17741047A>G	ENST00000519716.2	-	30	3575	c.3576T>C	c.(3574-3576)gtT>gtC	p.V1192V	UNC13A_ENST00000550896.1_Silent_p.V1190V|UNC13A_ENST00000552293.1_Silent_p.V1192V|UNC13A_ENST00000252773.7_Silent_p.V1192V|UNC13A_ENST00000551649.1_Silent_p.V1192V|UNC13A_ENST00000428389.2_Silent_p.V1280V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1192	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGGGAGAAAACATCCACCA	0.547													G|||	2404	0.480032	0.8517	0.451	5008	,	,		19359	0.2966		0.3459	False		,,,				2504	0.3252				p.V1192V		.											.	UNC13A-25	0			c.T3576C						.			3221,985		1248,725,130	42	45	44		3576	3.5	1	19	dbSNP_119	44	2927,5509		560,1807,1851	no	coding-synonymous	UNC13A	NM_001080421.2		1808,2532,1981	GG,GA,AA		34.6965,23.4189,48.6315		1192/1704	17741047	6148,6494	2103	4218	6321	SO:0001819	synonymous_variant	23025	exon29			GGAGAAAACATCC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3576T>C	19.37:g.17741047A>G		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	105	5	NM_001080421	0	0	0	0	0	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																			A|0.571;G|0.429		0.547	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		G	17741047	A	G	17741047	2	3	43	1	0	0	0	0	0	0	0	1	17033	1	1	4		4	UNC13A	19	17741047	Silent	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	11063058	17741047	41387936	77	9528											
DMKN	93099	hgsc.bcm.edu	37	chr19	36002386	36002386	+	Missense_Mutation	SNP	C	C	T													tgccaccactgctgccgccaCtgctgccgccactgctgctg					rs56743379|rs117522133		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:36002386C>T	ENST00000339686.3	-	5	1021	c.845G>A	c.(844-846)aGt>aAt	p.S282N	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S282N|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S282N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Missense_Mutation_p.S282N|DMKN_ENST00000447113.2_Missense_Mutation_p.S282N|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S282N|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000480502.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	282	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)			gctgccgccactgctgccgcc	0.632																																					p.S282N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G845A						.						26	20	22					19																	36002386		2190	4261	6451	SO:0001583	missense	93099	exon5			CCGCCACTGCTGC	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.845G>A	19.37:g.36002386C>T	ENSP00000342012:p.Ser282Asn	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	66	21	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007164	0.19199	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	3.03	0.883	0.19177	.	1.984400	0.02204	N	0.062511	T	0.35098	0.0920	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.12766	T	0.61	.	5.3636	0.16101	0.0:0.731:0.0:0.2689	.	282;282;282;282;282	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	282	ENSP00000342012:S282N;ENSP00000394908:S282N;ENSP00000415277:S282N;ENSP00000414743:S282N;ENSP00000388404:S282N;ENSP00000409513:S282N	ENSP00000342012:S282N	S	-	2	0	DMKN	40694226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	0.352000	0.24053	-0.221000	0.12465	AGT	C|0.945;T|0.055		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002386	C	T	36002386	3	4	43	1	0	0	0	0	1	0	0	0	4596	565	20	3	950	3	DMKN	19	36002386	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	18261339	36002386	23126597	78	9529	94	2									
DMKN	93099	hgsc.bcm.edu	37	chr19	36002389	36002389	+	Missense_Mutation	SNP	C	C	T													caccactgctgccgccactgCtgccgccactgctgctgcca					rs56743379|rs142519211		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:36002389C>T	ENST00000339686.3	-	5	1018	c.842G>A	c.(841-843)aGc>aAc	p.S281N	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S281N|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S281N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Missense_Mutation_p.S281N|DMKN_ENST00000447113.2_Missense_Mutation_p.S281N|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S281N|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000480502.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	281	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)			gccgccactgctgccgccact	0.632																																					p.S281N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G842A						.						26	20	22					19																	36002389		2188	4250	6438	SO:0001583	missense	93099	exon5			CCACTGCTGCCGC	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.842G>A	19.37:g.36002389C>T	ENSP00000342012:p.Ser281Asn	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	63	18	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151610	0.06585	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	3.03	1.94	0.25998	.	0.972189	0.08437	N	0.945978	T	0.22742	0.0549	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.20550	0.046;0.046;0.046;0.046;0.017	B;B;B;B;B	0.12837	0.008;0.008;0.008;0.008;0.005	T	0.22173	-1.0224	10	0.23302	T	0.38	.	6.4474	0.21883	0.0:0.86:0.0:0.14	.	281;281;281;281;281	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	281	ENSP00000342012:S281N;ENSP00000394908:S281N;ENSP00000415277:S281N;ENSP00000414743:S281N;ENSP00000388404:S281N;ENSP00000409513:S281N	ENSP00000342012:S281N	S	-	2	0	DMKN	40694229	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.000000	0.12993	0.834000	0.34852	0.561000	0.74099	AGC	C|0.957;T|0.043		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002389	C	T	36002389	3	4	43	1	0	0	0	0	1	0	0	0	4596	797	28	3	953	3	DMKN	19	36002389	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	3	36002389	23126594	79	9530	94	2									
SPTBN4	57731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41063159	41063159	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggagcttcataagttcttCagtgacgcccgagagcttca	11	11	4	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:41063159C>T	ENST00000352632.3	+	26	5606	c.5520C>T	c.(5518-5520)ttC>ttT	p.F1840F	SPTBN4_ENST00000392023.1_Silent_p.F516F|SPTBN4_ENST00000598249.1_Silent_p.F1840F|SPTBN4_ENST00000338932.3_Silent_p.F1840F|SPTBN4_ENST00000595535.1_Silent_p.F1840F|SPTBN4_ENST00000392025.1_Silent_p.F583F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1840					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)	p.F516L(1)|p.F1840L(1)		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)			ATAAGTTCTTCAGTGACGCCC	0.652																																					p.F1840F		.											.	SPTBN4-94	2	Substitution - Missense(2)	lung(2)	c.C5520T						.						26	30	28					19																	41063159		2203	4300	6503	SO:0001819	synonymous_variant	57731	exon26			GTTCTTCAGTGAC	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.5520C>T	19.37:g.41063159C>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	135	41	NM_020971	0	0	0	0	0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																			.		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41063159	C	T	41063159	2	4	43	1	0	0	0	0	0	0	0	1	15168	825	29	3		3	SPTBN4	19	41063159	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	5060770	41063159	18065824	80	9531											
TPRX1	284355	ucsc.edu	37	chr19	48305646	48305646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgagattgggcctgGgatcgggcctgggatcggga	20	8	0	1	rs112842028		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr19:48305646G>A	ENST00000322175.3	-	2	777	c.622C>T	c.(622-624)Cca>Tca	p.P208S	TPRX1_ENST00000543508.1_Missense_Mutation_p.P198S|TPRX1_ENST00000535759.1_Missense_Mutation_p.P305S	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	208	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		attgggcctgggatcgggcct	0.672																																					p.P208S	Esophageal Squamous(123;175 2281 3051 32395)	.											.	TPRX1-90	0			c.C622T						.						13	9	11					19																	48305646		1817	3498	5315	SO:0001583	missense	284355	exon2			GGCCTGGGATCGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.622C>T	19.37:g.48305646G>A	ENSP00000323455:p.Pro208Ser	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	38	6	NM_198479	0	0	0	0	0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.195800	0.00299	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.65549	-0.16;-0.16;-0.16	0.401	-0.802	0.10889	.	.	.	.	.	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08617	-1.0713	8	0.16896	T	0.51	.	.	.	.	.	208	Q8N7U7	TPRX1_HUMAN	S	208;305;198	ENSP00000323455:P208S;ENSP00000438832:P305S;ENSP00000438712:P198S	ENSP00000323455:P208S	P	-	1	0	TPRX1	52997458	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.103000	0.10940	-2.971000	0.00286	-2.992000	0.00078	CCA	G|0.500;A|0.500		0.672	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		A	48305646	G	A	48305646	3	1	43	1	0	0	0	0	1	0	0	0	16470	1232	43	3	617	3	TPRX1	19	48305646	Missense_Mutation	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	7242487	48305646	10823337	81	9532											
ZCCHC3	85364	hgsc.bcm.edu	37	chr20	278515	278515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggctggccgcggggaTccgaagggccgtcggagaga	18	13	0	1	rs2223665	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1	1	1					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	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.288T>C	20.37:g.278515T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_033089	0	0	0	0	0	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			C	278515	T	C	278515	2	2	43	1	0	0	0	0	0	0	0	1	17637	1432	50	4		4	ZCCHC3	20	278515	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10		278515	62747005	82	9533											
TRIB3	57761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	368653	368653	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttctctcctttttaccAgatgcgagccacccctctgg	7	15	2	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr20:368653A>G	ENST00000217233.3	+	2	553		c.e2-1		TRIB3_ENST00000485293.1_Splice_Site|TRIB3_ENST00000422053.2_Splice_Site	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3						cellular lipid metabolic process (GO:0044255)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCTTTTTACCAGATGCGAGCC	0.547																																					.	Melanoma(101;421 2374 19538)	.											.	TRIB3-359	0			.						.						44	48	47					20																	368653		2202	4300	6502	SO:0001630	splice_region_variant	57761	.			TTTACCAGATGCG	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.0-1A>G	20.37:g.368653A>G		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	46	17	.	0	0	0	4	4	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Splice_Site	SNP	ENST00000217233.3	37	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775223	0.16051	.	.	ENSG00000101255	ENST00000422053	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2688	0.43470	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIB3	316653	1.000000	0.71417	0.982000	0.44146	0.150000	0.21749	5.041000	0.64196	1.927000	0.55829	0.459000	0.35465	.	.		0.547	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158	Intron	G	368653	A	G	368653	5	3	43	1	0	0	0	0	0	0	1	0	16532	202	7	4	1	4	TRIB3	20	368653	Splice_Site	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	90138	368653	62656867	83	9534											
CPXM1	56265	bcgsc.ca	37	chr20	2776975	2776975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagcagccgggtcaccCgtgggttccctcgcaggaac	14	14	1	1	rs41310169	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr20:2776975C>T	ENST00000380605.2	-	9	1224	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	387					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						CCGGGTCACCCGTGGGTTCCC	0.622													C|||	19	0.00379393	8e-04	0.0043	5008	,	,		19754	0		0.0149	False		,,,				2504	0				p.R387Q		.											.	CPXM1-94	0			c.G1160A						.	C	GLN/ARG,GLN/ARG	6,4400	11.4+/-27.6	0,6,2197	79	74	76		1160,1160	5.4	0.7	20	dbSNP_127	76	114,8486	61.3+/-123.2	1,112,4187	yes	missense,missense	CPXM1	NM_001184699.1,NM_019609.4	43,43	1,118,6384	TT,TC,CC		1.3256,0.1362,0.9227	probably-damaging,probably-damaging	387/661,387/735	2776975	120,12886	2203	4300	6503	SO:0001583	missense	56265	exon9			GTCACCCGTGGGT	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.1160G>A	20.37:g.2776975C>T	ENSP00000369979:p.Arg387Gln	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_001184699	0	0	0	0	0	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	13	0.005952380952380952	0	0.0	1	0.0027624309392265192	0	0.0	12	0.0158311345646438	C	31	5.088769	0.94100	0.001362	0.013256	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10288	2.89	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.055425	0.64402	D	0.000001	T	0.22244	0.0536	M	0.85710	2.77	0.51482	D	0.999927	D;D	0.89917	0.99;1.0	P;D	0.69142	0.672;0.962	T	0.04811	-1.0925	10	0.87932	D	0	-22.8022	16.7686	0.85531	0.0:1.0:0.0:0.0	rs41310169;rs61729446	387;387	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Q	387;83	ENSP00000369979:R387Q	ENSP00000369979:R387Q	R	-	2	0	CPXM1	2724975	1.000000	0.71417	0.662000	0.29724	0.991000	0.79684	7.651000	0.83577	2.825000	0.97269	0.655000	0.94253	CGG	C|0.993;T|0.007		0.622	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2776975	C	T	2776975	3	4	43	1	0	0	0	0	1	0	0	0	3844	652	23	1	1068	1	CPXM1	20	2776975	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	2408322	2776975	60248545	84	9535											
R3HDML	140902	bcgsc.ca	37	chr20	42966025	42966025	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccacatccgggccagTgtgtacccacctgccgccaa	8	18	0	0	rs1884612	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr20:42966025T>C	ENST00000217043.2	+	1	400	c.228T>C	c.(226-228)agT>agC	p.S76S		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	76	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCCGGGCCAGTGTGTACCCAC	0.607													C|||	1236	0.246805	0.2519	0.3516	5008	,	,		17546	0.0982		0.2962	False		,,,				2504	0.2679				p.S76S		.											.	R3HDML-90	0			c.T228C						.	C		1187,3219	708.5+/-407.6	176,835,1192	57	54	55		228	0.6	1	20	dbSNP_92	55	2476,6124	694.4+/-404.7	346,1784,2170	no	coding-synonymous	R3HDML	NM_178491.2		522,2619,3362	CC,CT,TT		28.7907,26.9405,28.1639		76/254	42966025	3663,9343	2203	4300	6503	SO:0001819	synonymous_variant	140902	exon1			GGCCAGTGTGTAC	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.228T>C	20.37:g.42966025T>C		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	195	8	NM_178491	0	0	0	0	0		Silent	SNP	ENST00000217043.2	37	CCDS13329.1																																																																																			T|0.730;C|0.270		0.607	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		C	42966025	T	C	42966025	2	2	43	1	0	0	0	0	0	0	0	1	12934	1693	59	4		4	R3HDML	20	42966025	Silent	SNP	T	TCGA-OR-A5L3-01A-11D-A29I-10	40189050	42966025	20059495	85	9536											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G													gggtctcgggtgagccgcagCaatcgggggacggcagcctc					rs13049028	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2	2	2		892	-0.8	0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042579	C	G	36042579	3	3	43	1	0	0	0	0	1	0	0	0	3537	711	25	3	894	3	CLIC6	21	36042579	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		36042579	12087316	86	9537	95	2									
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A													tcgggtgagccgcagcaatcGggggacggcagcctctcgcc					rs13049239	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	43	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	5	36042584	12087311	87	9538	95	2									
KRTAP10-7	386675	broad.mit.edu	37	chr21	46020669	46020670	+	Frame_Shift_Del	DEL	AG	AG	-													agcccccctgctgcgcccccAgctgctgcgccccggccccc					rs36208679|rs60739860		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr21:46020669_46020670delAG	ENST00000380102.2	+	1	173_174	c.148_149delAG	c.(148-150)agcfs	p.S50fs	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	50	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGCGCCCCCAGCTGCTGCGCC	0.703																																					.		.											.	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	.						.																																			SO:0001589	frameshift_variant	386675	.			GCCCCCAGCTGCT	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.148_149delAG	21.37:g.46020669_46020670delAG	ENSP00000369445:p.Ser50fs	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	90	8	.	0	0	0	0	0	Q0VDJ8|Q70LJ2	Splice_Site	DEL	ENST00000380102.2	37																																																																																				.		0.703	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		-	46020670	AG	-	46020669	7	5	43	1	0	1	0	1	0	0	0	0	8541	202	7	0	139	0	KRTAP10-7	21	46020669	Frame_Shift_Del	DEL	AG	TCGA-OR-A5L3-01A-11D-A29I-10	9978085	46020669	2109226	88	9539											
LSS	4047	bcgsc.ca	37	chr21	47614443	47614443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatggcccagcatgtgttAtggatctgggactgggcact	13	9	2	0	rs2254522	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr21:47614443A>G	ENST00000397728.3	-	20	2028	c.1950T>C	c.(1948-1950)caT>caC	p.H650H	LSS_ENST00000522411.1_Silent_p.H639H|LSS_ENST00000457828.2_Silent_p.H570H|LSS_ENST00000356396.4_Silent_p.H650H|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	650					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCATGTGTTATGGATCTGGG	0.622													G|||	1695	0.338458	0.3253	0.2637	5008	,	,		20984	0.5655		0.1958	False		,,,				2504	0.3221				p.H650H	Pancreas(114;955 2313 34923 50507)	.											.	LSS-90	0			c.T1950C						.	G	,,,	1379,3027	687.5+/-404.9	223,933,1047	98	78	85		1950,1917,1710,1950	1.2	1	21	dbSNP_100	85	1740,6860	735.0+/-406.9	167,1406,2727	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	,,,	390,2339,3774	GG,GA,AA		20.2326,31.2982,23.9812	,,,	650/733,639/722,570/653,650/733	47614443	3119,9887	2203	4300	6503	SO:0001819	synonymous_variant	4047	exon20			TGTGTTATGGATC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1950T>C	21.37:g.47614443A>G		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	106	5	NM_001001438	0	0	18	18	0	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	CCDS13733.1	703	0.3218864468864469	126	0.25609756097560976	76	0.20994475138121546	347	0.6066433566433567	154	0.20316622691292877	G	5.699	0.313580	0.10789	0.312982	0.202326	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999999816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0859	0.36581	0.3764:0.0:0.6236:0.0	rs2254522;rs2254522	.	.	.	Q	18	.	.	X	-	1	0	LSS	46438871	1.000000	0.71417	0.967000	0.41034	0.432000	0.31715	2.487000	0.45268	-0.190000	0.10465	-0.726000	0.03593	TAA	A|0.712;C|0.002		0.622	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			G	47614443	A	G	47614443	2	3	43	1	0	0	0	0	0	0	0	1	9100	446	16	4		4	LSS	21	47614443	Silent	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10	1593774	47614443	515452	89	9540											
C21orf58	54058	hgsc.bcm.edu;broad.mit.edu	37	chr21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGGTGG													ccccaggtggccacacagcaINStggtggtggtggtggtggtg					rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr21:47721985_47721986insTGGTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCACCA	c.(895-897)cat>caCCACCAt	p.299_299H>HHH	C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HHH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HHH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HHH|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HHH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708																																					p.H299delinsHHH		.											.	C21orf58-91	3	Insertion - In frame(3)	breast(2)|central_nervous_system(1)	c.897_898insCCACCA						.																																			SO:0001652	inframe_insertion	54058	exon8			CACAGCATGGTGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.891_896dupCCACCA	21.37:g.47721986_47721991dupTGGTGG	ENSP00000291691:p.HisHis299dup	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	57	8	NM_058180	0	0	0	0	0	B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	CCDS13735.1																																																																																			-|0.500;TGG|0.500		0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		TGGTGG	47721986	-	TGGTGG	47721985	7	5	43	1	0	1	1	0	0	0	0	0	2136	214	8	0	75	0	C21orf58	21	47721985	In_Frame_Ins	INS	-	TCGA-OR-A5L3-01A-11D-A29I-10	107542	47721985	407910	90	9541											
CLDN5	7122	hgsc.bcm.edu	37	chr22	19511953	19511953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctgccggggggtacCctctttgaaggttcgggggc	16	12	1	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr22:19511953C>A	ENST00000406028.1	-	2	1141	c.81G>T	c.(79-81)agG>agT	p.R27S	CLDN5_ENST00000413119.2_Missense_Mutation_p.R27S|CLDN5_ENST00000403084.1_Missense_Mutation_p.R27S			O00501	CLD5_HUMAN	claudin 5	0					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CGGGGGGTACCCTCTTTGAAG	0.716																																					p.R27S		.											.	CLDN5-492	0			c.G81T						.						3	5	4					22																	19511953		622	1460	2082	SO:0001583	missense	7122	exon1			GGGTACCCTCTTT	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.81G>T	22.37:g.19511953C>A	ENSP00000385477:p.Arg27Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	24	11	NM_001130861	0	0	0	0	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947229	0.34377	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88741	-2.42;-2.42;-2.42	5.24	-6.06	0.02165	.	.	.	.	.	T	0.70544	0.3236	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.57418	-0.7815	9	0.87932	D	0	.	1.7987	0.03067	0.2908:0.3902:0.1059:0.2131	.	27	D3DX19	.	S	27	ENSP00000385477:R27S;ENSP00000384554:R27S;ENSP00000400612:R27S	ENSP00000384554:R27S	R	-	3	2	CLDN5	17891953	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.372000	0.07504	-0.620000	0.05641	-1.119000	0.02030	AGG	.		0.716	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		A	19511953	C	A	19511953	3	1	43	1	0	0	0	0	1	0	0	0	3495	622	22	3	834	3	CLDN5	22	19511953	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10		19511953	31792613	91	9542											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G													gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc					rs759610		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	43	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	1268138	20780091	30524475	92	9543	96	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C													tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt					rs759609		TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	43	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5L3-01A-11D-A29I-10	6	20780097	30524469	93	9544	96	2									
CYTSA	23384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	24709364	24709364	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaagaaaagcacctgCccatctgcagcaccttcagc	8	13	2	1			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chr22:24709364C>G	ENST00000314328.9	+	4	522	c.237C>G	c.(235-237)tgC>tgG	p.C79W	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.C79W|SPECC1L_ENST00000541492.1_Missense_Mutation_p.C79W|SPECC1L_ENST00000437398.1_Missense_Mutation_p.C79W|SPECC1L_ENST00000416735.1_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	79					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAAGCACCTGCCCATCTGCAG	0.488																																					p.C79W		.											.	SPECC1L-92	0			c.C237G						.						106	88	94					22																	24709364		2203	4300	6503	SO:0001583	missense	23384	exon3			CACCTGCCCATCT	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.237C>G	22.37:g.24709364C>G	ENSP00000325785:p.Cys79Trp	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	233	84	NM_001145468	0	0	0	0	0	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360951	0.41801	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.60920	0.15;2.62;0.15;3.15;0.72	5.09	1.74	0.24563	.	0.241950	0.41712	D	0.000834	T	0.46210	0.1381	N	0.14661	0.345	0.51767	D	0.999933	D;D	0.63046	0.992;0.964	P;P	0.53035	0.716;0.524	T	0.43734	-0.9373	10	0.72032	D	0.01	-18.3326	6.8014	0.23754	0.0:0.552:0.0:0.448	.	79;79	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	W	107;79;79;79;79;18	ENSP00000393363:C79W;ENSP00000405671:C79W;ENSP00000325785:C79W;ENSP00000439633:C79W;ENSP00000414354:C18W	ENSP00000325785:C79W	C	+	3	2	SPECC1L	23039364	0.021000	0.18746	0.466000	0.27168	0.993000	0.82548	0.199000	0.17237	0.210000	0.20664	-0.136000	0.14681	TGC	.		0.488	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		G	24709364	C	G	24709364	3	3	43	1	0	0	0	0	1	0	0	0	4218	747	26	3	243	3	CYTSA	22	24709364	Missense_Mutation	SNP	C	TCGA-OR-A5L3-01A-11D-A29I-10	3929267	24709364	26595202	94	9545											
SERPINA7	6906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	105277575	105277575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaacaacatgaaagatctAtcaatttggataatagggtg	8	5	3	2			TCGA-OR-A5L3-01A-11D-A29I-10	TCGA-OR-A5L3-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	20de8d93-d3ca-4127-a242-4b4883523118	4a788687-ee2a-41b7-809d-410076aa453b	g.chrX:105277575A>T	ENST00000327674.4	-	4	1499	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E	SERPINA7_ENST00000372563.1_Missense_Mutation_p.D388E|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	388					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGAAAGATCTATCAATTTGGA	0.428																																					p.D388E		.											.	SERPINA7-226	0			c.T1164A						.						215	215	215					X																	105277575		2203	4300	6503	SO:0001583	missense	6906	exon5			AGATCTATCAATT	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1164T>A	X.37:g.105277575A>T	ENSP00000329374:p.Asp388Glu	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	230	99	NM_000354	0	0	0	0	0	D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514560	0.44763	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.88975	-2.45;-2.45	4.9	2.31	0.28768	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.231301	0.35970	N	0.002866	D	0.88948	0.6576	M	0.88979	2.995	0.22866	N	0.998638	B	0.25850	0.136	B	0.27500	0.08	D	0.83420	0.0032	10	0.87932	D	0	.	7.9161	0.29818	0.6746:0.0:0.0:0.3254	.	388	P05543	THBG_HUMAN	E	388	ENSP00000329374:D388E;ENSP00000361644:D388E	ENSP00000329374:D388E	D	-	3	2	SERPINA7	105164231	0.607000	0.26958	0.174000	0.22961	0.012000	0.07955	1.042000	0.30303	0.777000	0.33496	0.481000	0.45027	GAT	.		0.428	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		T	105277575	A	T	105277575	3	4	43	1	0	0	0	0	1	0	0	0	14139	446	16	5	87	5	SERPINA7	23	105277575	Missense_Mutation	SNP	A	TCGA-OR-A5L3-01A-11D-A29I-10		105277575	49992985	95	9546											
AKR7L	246181	bcgsc.ca	37	chr1	19595159	19595159	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagggccttctccacCagggcaatgccctcgaagtg	12	15	1	0	rs116631486	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:19595159C>T	ENST00000429712.1	-	0	860				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						CCTTCTCCACCAGGGCAATGC	0.627													.|||	155	0.0309505	0	0.0202	5008	,	,		16629	0.0476		0.0288	False		,,,				2504	0.0654				.		.											.	AKR7L-90	0			.						.	C		47,4359	47.5+/-82.1	0,47,2156	84	76	79			2.7	1	1	dbSNP_132	79	335,8265	115.7+/-175.5	10,315,3975	no	intergenic				10,362,6131	TT,TC,CC		3.8953,1.0667,2.9371			19595159	382,12624	2203	4300	6503			246181	.			CTCCACCAGGGCA			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.19595159C>T		Somatic	161	2		WXS	Illumina GAIIx	Phase_I	133	5	.	0	0	0	0	0	Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																				C|0.972;T|0.028		0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		T	19595159	C	T	19595159	1	4	44	0	1	0	0	0	0	0	0	0	477	594	21	3		3	AKR7L	1	19595159	RNA	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10		19595159	229655462	1	9547											
GMEB1	10691	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29040851	29040851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccaccctcagccagGgctccagtcctgtgactgtc	11	16	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:29040851G>A	ENST00000294409.2	+	10	1378	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	GMEB1_ENST00000361872.4_Missense_Mutation_p.G420S|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.G420S	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	430					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCAGCCAGGGCTCCAGTCC	0.572																																					p.G430S		.											.	GMEB1-90	0			c.G1288A						.						116	94	102					1																	29040851		2203	4300	6503	SO:0001583	missense	10691	exon10			AGCCAGGGCTCCA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1288G>A	1.37:g.29040851G>A	ENSP00000294409:p.Gly430Ser	Somatic	259	2		WXS	Illumina GAIIx	Phase_I	174	131	NM_006582	0	0	0	4	4	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325072	0.60634	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.56275	0.47;0.47;0.47	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	L	0.40543	1.245	0.25913	N	0.983204	B;B	0.25521	0.128;0.128	B;B	0.23018	0.043;0.043	T	0.29488	-1.0010	10	0.27785	T	0.31	-23.9324	16.8601	0.86016	0.0:0.0:1.0:0.0	.	430;420	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	420;420;430	ENSP00000362922:G420S;ENSP00000355186:G420S;ENSP00000294409:G430S	ENSP00000294409:G430S	G	+	1	0	GMEB1	28913438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.379000	0.52440	2.716000	0.92895	0.655000	0.94253	GGC	.		0.572	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		A	29040851	G	A	29040851	3	1	44	1	0	0	0	0	1	0	0	0	6513	1232	43	3	1322	3	GMEB1	1	29040851	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	9445692	29040851	220209770	2	9548											
COL16A1	1307	bcgsc.ca	37	chr1	32165495	32165495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttcttgatggcagacGtcttcatgaggctgagtcgg	14	8	4	4	rs2228552	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:32165495G>T	ENST00000373672.3	-	4	701	c.185C>A	c.(184-186)aCg>aAg	p.T62K	COL16A1_ENST00000373668.3_Missense_Mutation_p.T62K|COL16A1_ENST00000271069.6_Missense_Mutation_p.T62K	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	62	Laminin G-like.		T -> K (in dbSNP:rs2228552). {ECO:0000269|PubMed:1631157}.		cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GATGGCAGACGTCTTCATGAG	0.607													g|||	2140	0.427316	0.261	0.4553	5008	,	,		18858	0.2708		0.6481	False		,,,				2504	0.5665				p.T62K	Colon(143;498 1786 21362 25193 36625)	.											.	COL16A1-98	0			c.C185A						.		LYS/THR	1393,2625		248,897,864	103	102	103		185	-2.4	0.1	1	dbSNP_98	103	5284,3044		1698,1888,578	yes	missense	COL16A1	NM_001856.3	78	1946,2785,1442	TT,TG,GG		36.5514,34.669,45.9177	benign	62/1605	32165495	6677,5669	2009	4164	6173	SO:0001583	missense	1307	exon4			GCAGACGTCTTCA	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.185C>A	1.37:g.32165495G>T	ENSP00000362776:p.Thr62Lys	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	69	5	NM_001856	0	0	2	2	0	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	936	0.42857142857142855	125	0.2540650406504065	183	0.505524861878453	135	0.23601398601398602	493	0.6503957783641161	g	11.33	1.607805	0.28623	0.34669	0.634486	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.24538	1.85;1.85;1.85	4.63	-2.4	0.06583	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.848291	0.10321	N	0.688765	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	D;B	0.54964	0.969;0.047	P;B	0.45195	0.473;0.045	T	0.37888	-0.9686	9	0.38643	T	0.18	.	8.0524	0.30585	0.4022:0.1013:0.4966:0.0	rs2228552;rs2297673;rs10798885;rs17498623;rs52810622;rs56583694;rs58033914;rs2228552	62;62	A6NCT7;Q07092	.;COGA1_HUMAN	K	62	ENSP00000362776:T62K;ENSP00000271069:T62K;ENSP00000362772:T62K	ENSP00000271069:T62K	T	-	2	0	COL16A1	31938082	0.000000	0.05858	0.076000	0.20297	0.704000	0.40688	-0.788000	0.04614	-1.129000	0.02918	-2.101000	0.00361	ACG	G|0.551;T|0.449		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32165495	G	T	32165495	3	4	44	1	0	0	0	0	1	0	0	0	3680	1145	40	2	4901	2	COL16A1	1	32165495	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	3124644	32165495	217085126	3	9549											
INPP5B	3633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	38397696	38397696	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataccgagacagccacaggaAttcaggatcccgggtcgcag	12	12	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:38397696A>T	ENST00000373026.1	-	6	421	c.421T>A	c.(421-423)Ttc>Atc	p.F141I	INPP5B_ENST00000373023.2_Missense_Mutation_p.F141I|INPP5B_ENST00000373021.1_Missense_Mutation_p.F141I|INPP5B_ENST00000373027.1_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.F141I			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	141	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCACAGGAATTCAGGATCC	0.587																																					p.F141I		.											.	INPP5B-227	0			c.T421A						.						23	26	25					1																	38397696		1966	4156	6122	SO:0001583	missense	3633	exon7			ACAGGAATTCAGG	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.421T>A	1.37:g.38397696A>T	ENSP00000362117:p.Phe141Ile	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	20	9	NM_005540	0	0	0	0	0	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	A	16.93	3.258828	0.59321	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.94537	-3.45;-3.45;-3.44;0.56	5.0	5.0	0.66597	.	1.548380	0.03216	N	0.176789	D	0.97012	0.9024	M	0.62723	1.935	0.80722	D	1	B;D;P	0.76494	0.155;0.999;0.502	B;D;B	0.81914	0.035;0.995;0.291	D	0.89619	0.3847	10	0.87932	D	0	.	11.2602	0.49078	1.0:0.0:0.0:0.0	.	141;141;141	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	I	141	ENSP00000362114:F141I;ENSP00000362117:F141I;ENSP00000362115:F141I;ENSP00000362112:F141I	ENSP00000362112:F141I	F	-	1	0	INPP5B	38170283	0.999000	0.42202	0.945000	0.38365	0.691000	0.40173	4.007000	0.57093	2.225000	0.72522	0.460000	0.39030	TTC	.		0.587	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		T	38397696	A	T	38397696	3	4	44	1	0	0	0	0	1	0	0	0	7782	101	4	5	2392	5	INPP5B	1	38397696	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	6232201	38397696	210852925	4	9550											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_018364	0	0	0	2	2	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	44	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	75956958	114354654	134895967	5	9551											
IGSF3	3321	ucsc.edu;bcgsc.ca	37	chr1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggtcctctccgccagtCgcgtccaggtgttgttgtag	14	11	1	0	rs76151115	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q|IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																					p.R680Q		.											.	IGSF3-92	0			c.G2039A						.						69	54	59					1																	117142613		2203	4300	6503	SO:0001583	missense	3321	exon8			GCCAGTCGCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln	Somatic	102	4		WXS	Illumina GAIIx	Phase_I	94	21	NM_001542	0	0	1	1	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA	C|0.990;T|0.010		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117142613	C	T	117142613	3	4	44	1	0	0	0	0	1	0	0	0	7628	884	31	1	1625	1	IGSF3	1	117142613	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	2787959	117142613	132108008	6	9552											
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	247599417	247599417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tatgtgaaaaagccaagaatCcacagtgtaacctgcagaaa	8	8	0	3			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr1:247599417C>G	ENST00000336119.3	+	6	3390	c.2644C>G	c.(2644-2646)Cca>Gca	p.P882A	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.P825A|NLRP3_ENST00000391828.3_Missense_Mutation_p.P882A|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron	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	882					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCAAGAATCCACAGTGTAA	0.448																																					p.P882A		.											.	NLRP3-674	0			c.C2644G						.						92	86	88					1																	247599417		2203	4300	6503	SO:0001583	missense	114548	exon6			AAGAATCCACAGT	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.2644C>G	1.37:g.247599417C>G	ENSP00000337383:p.Pro882Ala	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	103	45	NM_004895	0	0	0	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	8.713	0.912457	0.17907	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.41400	1.0;1.0;1.0	3.63	2.72	0.32119	.	0.000000	0.35739	N	0.003011	T	0.38532	0.1044	M	0.76727	2.345	0.29871	N	0.826831	B;P;B	0.40660	0.316;0.726;0.038	B;B;B	0.37267	0.081;0.245;0.012	T	0.48019	-0.9071	10	0.62326	D	0.03	.	7.1262	0.25473	0.0:0.8784:0.0:0.1216	.	862;825;882	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	A	882;882;825	ENSP00000375704:P882A;ENSP00000337383:P882A;ENSP00000375703:P825A	ENSP00000337383:P882A	P	+	1	0	NLRP3	245666040	0.199000	0.23386	0.006000	0.13384	0.005000	0.04900	2.945000	0.49043	1.132000	0.42129	0.536000	0.68110	CCA	.		0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247599417	C	G	247599417	3	3	44	1	0	0	0	0	1	0	0	0	10517	855	30	3	2666	3	NLRP3	1	247599417	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	130456804	247599417	1651204	7	9553											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	44	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10		7005369	236194004	8	9554											
KRTCAP3	200634	hgsc.bcm.edu;broad.mit.edu	37	chr2	27665608	27665609	+	Frame_Shift_Del	DEL	TC	TC	-													gtacaccgtagccaatgtcaTctctgtcggctcggggctgc					rs575937995	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:27665608_27665609delTC	ENST00000543753.1	+	2	238_239	c.191_192delTC	c.(190-192)atcfs	p.I64fs	KRTCAP3_ENST00000288873.3_Frame_Shift_Del_p.I64fs|KRTCAP3_ENST00000407293.1_Frame_Shift_Del_p.I46fs	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	64						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GCCAATGTCATCTCTGTCGGCT	0.698														3	0.000599042	0	0.0029	5008	,	,		12068	0		0	False		,,,				2504	0.001				p.64_64del		.											.	KRTCAP3-90	0			c.191_192del						.		,	5,4247		2,1,2123					,	3.8	1			29	7,8229		1,5,4112	no	frameshift,frameshift	KRTCAP3	NM_173853.3,NM_001168364.1	,	3,6,6235	A1A1,A1R,RR		0.085,0.1176,0.0961	,	,		12,12476				SO:0001589	frameshift_variant	200634	exon2			ATGTCATCTCTGT	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.191_192delTC	2.37:g.27665610_27665611delTC	ENSP00000442400:p.Ile64fs	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	19	16	NM_173853	0	0	0	0	0	B7ZL49|Q6UW42|Q8IWS5	Frame_Shift_Del	DEL	ENST00000543753.1	37	CCDS1754.1																																																																																			.		0.698	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		-	27665609	TC	-	27665608	7	5	44	1	0	1	0	1	0	0	0	0	8607	1435	50	0	197	0	KRTCAP3	2	27665608	Frame_Shift_Del	DEL	TC	TCGA-OR-A5L4-01A-11D-A29I-10	20660239	27665608	215533765	9	9555											
TTC7A	57217	bcgsc.ca	37	chr2	47277186	47277186	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatgatgcagactctgGtaagaacgagctccttgggc	12	11	1	3			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:47277186G>T	ENST00000319190.5	+	17	2385		c.e17+1		TTC7A_ENST00000409245.1_Splice_Site|TTC7A_ENST00000394850.2_Splice_Site|TTC7A_ENST00000263737.6_Splice_Site	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A						cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGACTCTGGTAAGAACGAG	0.592																																					.		.											.	TTC7A-136	0			c.2017+1G>T						.						80	69	73					2																	47277186		2203	4300	6503	SO:0001630	splice_region_variant	57217	exon17			ACTCTGGTAAGAA	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2017+1G>T	2.37:g.47277186G>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	71	5	NM_020458	0	0	1	1	0	Q6PIX4|Q8ND67|Q9BUS3	Splice_Site	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272364	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3515	0.74393	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC7A	47130690	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	5.218000	0.65257	2.606000	0.88127	0.655000	0.94253	.	.		0.592	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	Intron	T	47277186	G	T	47277186	5	4	44	1	0	0	0	0	0	0	1	0	16761	1275	44	3	2084	3	TTC7A	2	47277186	Splice_Site	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	19611578	47277186	195922187	10	9556											
CD8B	926	hgsc.bcm.edu	37	chr2	87088964	87088964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagctgcgcggccaAgaggagccacagccgcggcc	14	16	1	1	rs62146888	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000393759.2_Silent_p.L9L|CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000393761.2_Silent_p.L9L|CD8B_ENST00000331469.2_Silent_p.L9L|CD8B_ENST00000431506.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		.											.	CD8B-92	0			c.T25C						.						1	1	1					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87088964	A	G	87088964	2	3	44	1	0	0	0	0	0	0	0	1	3052	69	3	4		4	CD8B	2	87088964	Silent	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	39811778	87088964	156110409	11	9557											
INPP4A	3631	broad.mit.edu	37	chr2	99172244	99172244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccaccatgccctccActgcatgccatcctcatctg	5	21	2	0	rs2278206	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:99172244A>G	ENST00000523221.1	+	15	1810	c.1810A>G	c.(1810-1812)Act>Gct	p.T604A	INPP4A_ENST00000409851.3_Missense_Mutation_p.T599A|INPP4A_ENST00000545415.1_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.T604A|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	604			T -> A (in dbSNP:rs2278206).		inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CATGCCCTCCACTGCATGCCA	0.552													G|||	1424	0.284345	0.2375	0.3069	5008	,	,		21373	0.3155		0.2654	False		,,,				2504	0.319				p.T604A		.											.	INPP4A-227	0			c.A1810G	GRCh37	CM084964	INPP4A	M	rs2278206	.	G	ALA/THR,ALA/THR,,	351,1033		51,249,392	205	209	207		1810,1795,,	2.4	0.3	2	dbSNP_100	207	805,2377		104,597,890	yes	missense,missense,intron,intron	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	58,58,,	155,846,1282	GG,GA,AA		25.2986,25.3613,25.3176	benign,benign,,	604/978,599/973,,	99172244	1156,3410	692	1591	2283	SO:0001583	missense	3631	exon17			CCCTCCACTGCAT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1810A>G	2.37:g.99172244A>G	ENSP00000427722:p.Thr604Ala	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	100	3	NM_001134224	0	0	2	2	0	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	601	0.2751831501831502	127	0.258130081300813	110	0.30386740331491713	171	0.29895104895104896	193	0.2546174142480211	G	1.804	-0.476376	0.04414	0.253613	0.252986	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	T;T;T	0.15718	2.4;2.4;2.4	5.14	2.4	0.29515	.	0.498696	0.19604	N	0.110315	T	0.00012	0.0000	N	0.08118	0	0.24989	P	0.99154762	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47623	-0.9103	8	.	.	.	-1.1761	1.3523	0.02175	0.3134:0.1264:0.4149:0.1452	rs2278206;rs60846330;rs2278206	604;599	Q96PE3;Q96PE3-3	INP4A_HUMAN;.	A	599;604;604	ENSP00000386777:T599A;ENSP00000074304:T604A;ENSP00000427722:T604A	.	T	+	1	0	INPP4A	98538676	0.004000	0.15560	0.339000	0.25562	0.915000	0.54546	0.194000	0.17135	0.092000	0.17331	-1.653000	0.00756	ACT	A|0.729;G|0.271		0.552	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		G	99172244	A	G	99172244	3	3	44	1	0	0	0	0	1	0	0	0	7779	159	6	4	1868	4	INPP4A	2	99172244	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	12083280	99172244	144027129	12	9558											
MALL	7851	broad.mit.edu;bcgsc.ca	37	chr2	110873264	110873264	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgggggtgccgcactcaCcagctcgggcaggaagaagg	18	11	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:110873264C>T	ENST00000272462.2	-	1	879		c.e1+1		MALL_ENST00000427178.1_Splice_Site	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like						cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GCCGCACTCACCAGCTCGGGC	0.721																																					.		.											.	MALL-92	0			c.105+1G>A						.						15	16	16					2																	110873264		2173	4266	6439	SO:0001630	splice_region_variant	7851	exon2			CACTCACCAGCTC	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.105+1G>A	2.37:g.110873264C>T		Somatic	54	2		WXS	Illumina GAIIx	Phase_I	146	116	NM_005434	0	0	0	0	0	B3KWR6|Q9BTU0	Splice_Site	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472407	0.43942	.	.	ENSG00000144063	ENST00000272462;ENST00000427178	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.753	0.62919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MALL	110230553	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.254000	0.58798	2.076000	0.62316	0.462000	0.41574	.	.		0.721	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434	Intron	T	110873264	C	T	110873264	5	4	44	1	0	0	0	0	0	0	1	0	9239	521	18	3	371	3	MALL	2	110873264	Splice_Site	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	11701020	110873264	132326109	13	9559											
MARCO	8685	bcgsc.ca	37	chr2	119739063	119739063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggagtaaaggtgactTcgggaggccaggcccaccag	16	11	0	1	rs6761637	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr2:119739063T>C	ENST00000327097.4	+	9	980	c.845T>C	c.(844-846)tTc>tCc	p.F282S	MARCO_ENST00000541757.1_Missense_Mutation_p.F204S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAAGGTGACTTCGGGAGGCCA	0.532													C|||	844	0.16853	0.3548	0.0476	5008	,	,		16791	0.123		0.0358	False		,,,				2504	0.1861				p.F282S	GBM(8;18 374 7467 11269 32796)	.											.	MARCO-95	0			c.T845C						.	C	SER/PHE	1300,3106	690.3+/-405.2	199,902,1102	32	35	34		845	4.4	0	2	dbSNP_116	34	448,8152	796.4+/-407.5	13,422,3865	yes	missense	MARCO	NM_006770.3	155	212,1324,4967	CC,CT,TT		5.2093,29.5052,13.44	benign	282/521	119739063	1748,11258	2203	4300	6503	SO:0001583	missense	8685	exon9			GTGACTTCGGGAG	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.845T>C	2.37:g.119739063T>C	ENSP00000318916:p.Phe282Ser	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_006770	0	0	0	0	0	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	269	0.12316849816849818	145	0.29471544715447157	20	0.055248618784530384	72	0.1258741258741259	32	0.04221635883905013	C	3.494	-0.103147	0.06967	0.295052	0.052093	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93247	-1.68;-3.19	5.33	4.45	0.53987	.	0.611500	0.15982	N	0.235279	T	0.00012	0.0000	N	0.02403	-0.565	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08207	-1.0733	8	.	.	.	.	7.9847	0.30205	0.0:0.819:0.0:0.181	rs6761637;rs52807463;rs59619363;rs6761637	282	Q9UEW3	MARCO_HUMAN	S	282;282;204	ENSP00000318916:F282S;ENSP00000441769:F204S	.	F	+	2	0	MARCO	119455533	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	0.546000	0.23284	0.834000	0.34852	-0.119000	0.15052	TTC	T|0.873;C|0.127		0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		C	119739063	T	C	119739063	3	2	44	1	0	0	0	0	1	0	0	0	9349	1783	62	4	879	4	MARCO	2	119739063	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	8865799	119739063	123460310	14	9560											
DYNC1LI1	51143	bcgsc.ca	37	chr3	32578505	32578505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtatttaaaaggatacacTgtaaacaaaacttccggata	6	6	0	0	rs2303857	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:32578505T>C	ENST00000273130.4	-	6	933	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.Q161R	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	277			Q -> R (in dbSNP:rs2303857). {ECO:0000269|Ref.1, ECO:0000269|Ref.2}.		microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						AAGGATACACTGTAAACAAAA	0.294													T|||	264	0.0527157	0.0393	0.0605	5008	,	,		15272	0.0536		0.0984	False		,,,				2504	0.0174				p.Q277R		.											.	DYNC1LI1-91	0			c.A830G						.	T	ARG/GLN	216,4186	130.6+/-167.2	4,208,1989	81	76	78		830	5.7	1	3	dbSNP_100	78	661,7911	166.4+/-218.3	26,609,3651	yes	missense	DYNC1LI1	NM_016141.3	43	30,817,5640	CC,CT,TT		7.7112,4.9069,6.7597	benign	277/524	32578505	877,12097	2201	4286	6487	SO:0001583	missense	51143	exon6			ATACACTGTAAAC	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.830A>G	3.37:g.32578505T>C	ENSP00000273130:p.Gln277Arg	Somatic	154	2		WXS	Illumina GAIIx	Phase_I	99	7	NM_016141	0	0	0	0	0	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	CCDS2654.1	141	0.06456043956043957	20	0.04065040650406504	25	0.06906077348066299	24	0.04195804195804196	72	0.09498680738786279	T	14.69	2.612017	0.46631	0.049069	0.077112	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18174	2.23;2.23	5.66	5.66	0.87406	.	0.106709	0.64402	D	0.000003	T	0.01353	0.0044	L	0.42487	1.325	0.09310	P	0.99999531768	D;B	0.64830	0.994;0.024	D;B	0.76575	0.988;0.027	T	0.00883	-1.1528	9	0.33141	T	0.24	-4.3766	15.8884	0.79273	0.0:0.0:0.0:1.0	rs2303857;rs17638902;rs52837952;rs56832392;rs2303857	161;277	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	R	277;161	ENSP00000273130:Q277R;ENSP00000407279:Q161R	ENSP00000273130:Q277R	Q	-	2	0	DYNC1LI1	32553509	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.263000	0.72521	2.147000	0.66899	0.383000	0.25322	CAG	T|0.935;C|0.065		0.294	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		C	32578505	T	C	32578505	3	2	44	1	0	0	0	0	1	0	0	0	4858	1580	55	4	773	4	DYNC1LI1	3	32578505	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10		32578505	165443925	15	9561											
AMIGO3	29925	broad.mit.edu	37	chr3	49755730	49755730	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacaaggcccacggcacagCccagcagtgtggtgaagcct	13	14	0	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:49755730C>A	ENST00000480687.1	-	0	4654				AMIGO3_ENST00000535833.1_Missense_Mutation_p.G390V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.G390V			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGCACAGCCCAGCAGTGT	0.682																																					p.G390V		.											.	AMIGO3-91	0			c.G1169T						.						56	57	56					3																	49755730		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724	exon1			GCACAGCCCAGCA	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3455G>T	3.37:g.49755730C>A		Somatic	47	3		WXS	Illumina GAIIx	Phase_I	120	13	NM_198722	0	0	0	0	0	A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777610	0.70107	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.66099	-0.19;-0.19	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78548	-0.2162	10	0.48119	T	0.1	-30.7634	18.0399	0.89316	0.0:1.0:0.0:0.0	.	390	Q86WK7	AMGO3_HUMAN	V	390	ENSP00000323096:G390V;ENSP00000439268:G390V	ENSP00000323096:G390V	G	-	2	0	AMIGO3	49730734	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.051000	0.71072	2.618000	0.88619	0.462000	0.41574	GGC	.		0.682	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		A	49755730	C	A	49755730	1	1	44	0	1	0	0	0	0	0	0	0	577	739	26	3		3	AMIGO3	3	49755730	3'UTR	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	17177225	49755730	148266700	16	9562											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	44	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	16795026	66550756	131471674	17	9563	97	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	44	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	6	66550762	131471668	18	9564	97	2									
CHST13	166012	hgsc.bcm.edu	37	chr3	126260630	126260630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcgcgacctgctgaacAgcgcctgtagccgccactca	12	16	1	1	rs12495696	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr3:126260630A>G	ENST00000319340.2	+	3	285	c.235A>G	c.(235-237)Agc>Ggc	p.S79G		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	79					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCTGCTGAACAGCGCCTGTAG	0.716													A|||	442	0.0882588	0.0499	0.0879	5008	,	,		8598	0.1042		0.0626	False		,,,				2504	0.1503				p.S79G		.											.	CHST13-90	0			c.A235G						.	A	GLY/SER	169,4005		1,167,1919	9	8	8		235	-2.8	0.8	3	dbSNP_120	8	288,7872		3,282,3795	no	missense	CHST13	NM_152889.2	56	4,449,5714	GG,GA,AA		3.5294,4.0489,3.7052	benign	79/342	126260630	457,11877	2087	4080	6167	SO:0001583	missense	166012	exon3			CTGAACAGCGCCT	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.235A>G	3.37:g.126260630A>G	ENSP00000317404:p.Ser79Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_152889	0	0	0	0	0	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	137	0.06272893772893773	23	0.046747967479674794	25	0.06906077348066299	41	0.07167832167832168	48	0.0633245382585752	A	10.08	1.252004	0.22880	0.040489	0.035294	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.68331	-0.32	4.84	-2.85	0.05734	.	0.448844	0.21668	N	0.070917	T	0.05318	0.0141	L	0.29908	0.895	0.58432	P	1.0000000000287557E-6	B	0.22480	0.07	B	0.24974	0.057	T	0.04373	-1.0956	9	0.40728	T	0.16	-12.1141	5.2514	0.15524	0.6241:0.184:0.1095:0.0824	rs12495696	79	Q8NET6	CHSTD_HUMAN	G	79	ENSP00000317404:S79G	ENSP00000317404:S79G	S	+	1	0	CHST13	127743320	0.989000	0.36119	0.763000	0.31416	0.782000	0.44232	1.632000	0.37102	-0.572000	0.06006	-0.619000	0.04042	AGC	A|0.936;G|0.064		0.716	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		G	126260630	A	G	126260630	3	3	44	1	0	0	0	0	1	0	0	0	3408	188	7	4	245	4	CHST13	3	126260630	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	59709868	126260630	71761800	19	9565											
LNX1	84708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	54439911	54439911	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctggacttcttgcAgtgctgcagaaccagaggct	13	10	1	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:54439911A>T	ENST00000263925.7	-	2	573	c.259T>A	c.(259-261)Tgc>Agc	p.C87S	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	87					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GACTTCTTGCAGTGCTGCAGA	0.572																																					p.C87S		.											.	LNX1-229	0			c.T259A						.						57	50	52					4																	54439911		1568	3582	5150	SO:0001583	missense	84708	exon2			TCTTGCAGTGCTG	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.259T>A	4.37:g.54439911A>T	ENSP00000263925:p.Cys87Ser	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	236	90	NM_001126328	0	0	0	0	0	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178716	0.57692	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	T;T;T;T	0.19532	4.29;2.69;2.34;2.14	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57335	-0.7829	10	0.87932	D	0	.	16.1659	0.81754	1.0:0.0:0.0:0.0	.	87	Q8TBB1	LNX1_HUMAN	S	87	ENSP00000263925:C87S;ENSP00000426445:C87S;ENSP00000421897:C87S;ENSP00000424364:C87S	ENSP00000263925:C87S	C	-	1	0	LNX1	54134668	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	8.962000	0.93254	2.221000	0.72209	0.383000	0.25322	TGC	.		0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			T	54439911	A	T	54439911	3	4	44	1	0	0	0	0	1	0	0	0	8895	188	7	5	2063	5	LNX1	4	54439911	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10		54439911	136714365	20	9566											
LNX1	84708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	54440019	54440019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacacggagtgtccagggGgtccagcaaagcctgcaggc	14	13	0	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:54440019G>A	ENST00000263925.7	-	2	465	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	51					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTGTCCAGGGGGTCCAGCAAA	0.567																																					p.P51S		.											.	LNX1-229	0			c.C151T						.						42	40	40					4																	54440019		1568	3582	5150	SO:0001583	missense	84708	exon2			CCAGGGGGTCCAG	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.151C>T	4.37:g.54440019G>A	ENSP00000263925:p.Pro51Ser	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	183	83	NM_001126328	0	0	0	0	0	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577973	0.86645	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	D;D;T;D	0.86956	-2.19;-2.19;1.54;-2.19	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.049803	0.85682	D	0.000000	D	0.93752	0.8003	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93516	0.6857	10	0.87932	D	0	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	51	Q8TBB1	LNX1_HUMAN	S	51	ENSP00000263925:P51S;ENSP00000426445:P51S;ENSP00000421897:P51S;ENSP00000424364:P51S	ENSP00000263925:P51S	P	-	1	0	LNX1	54134776	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.869000	0.99810	2.837000	0.97791	0.591000	0.81541	CCC	.		0.567	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			A	54440019	G	A	54440019	3	1	44	1	0	0	0	0	1	0	0	0	8895	1232	43	3	2171	3	LNX1	4	54440019	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	108	54440019	136714257	21	9567											
DSPP	1834	hgsc.bcm.edu	37	chr4	88537078	88537213	+	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-													agtgaaagcagtgatagcagTgacagcagcaatagcagtga					rs529175881|rs563891927|rs151217478|rs201186956|rs201078954|rs551655835|rs199799532|rs201754564|rs376726974|rs551176886|rs536124533|rs374679002|rs367717407|rs531156875|rs370267258|rs200796238|rs200745922|rs373236680|rs373805744|rs553101049|rs372453629|rs201399566|rs553323131|rs199671813|rs534854783|rs143067236|rs376515601|rs369973717|rs368984442|rs200276196	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENST00000282478.7	+	4	3297_3432	c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	c.(3262-3399)agtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtfs	p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs	DSPP_ENST00000399271.1_Frame_Shift_Del_p.SDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSS1088fs|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1088	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgatagcagtgacagcagcaatagcagtgacagcagcgatagcagcgacagcagcgacagcagcgatagcagtgacagcagcgatagcagtgacagcagtgacagcagcaatagcagtgacagcagtgacagcagcgacagcagtgatagcagtg	0.554																																					p.1088_1133del		.											.	DSPP-90	0			c.3264_3399del						.																																			SO:0001589	frameshift_variant	1834	exon5			TAGCAGTGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3264_3399delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	4.37:g.88537078_88537213delTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	ENSP00000282478:p.Ser1088fs	Somatic	671	0		WXS	Illumina GAIIx	Phase_I	500	0	NM_014208	0	0	0	0	0	A8MUI0|O95815	Frame_Shift_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.554	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537213	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	-	88537078	7	5	44	1	0	1	0	1	0	0	0	0	4796	1693	59	0	3278	0	DSPP	4	88537078	Frame_Shift_Del	DEL	TGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	TCGA-OR-A5L4-01A-11D-A29I-10	34097059	88537078	102617198	22	9568											
SPP1	6696	bcgsc.ca	37	chr4	88902692	88902692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgatgaagatgatgaTgaccatgtggacagccagga	14	5	0	6	rs4754	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr4:88902692T>C	ENST00000395080.3	+	6	409	c.282T>C	c.(280-282)gaT>gaC	p.D94D	SPP1_ENST00000360804.4_Silent_p.D67D|SPP1_ENST00000237623.7_Silent_p.D80D|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.D94D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AAGATGATGATGACCATGTGG	0.433													T|||	1808	0.361022	0.1543	0.3775	5008	,	,		19176	0.7054		0.2813	False		,,,				2504	0.3558				p.D107D		.											.	SPP1-555	1	Substitution - coding silent(1)	prostate(1)	c.T321C	GRCh37	CM033816	SPP1	M	rs4754	.	T	,,	784,3622	315.5+/-294.2	59,666,1478	269	248	255		240,282,201	-9.9	0	4	dbSNP_52	255	2339,6261	391.6+/-343.7	348,1643,2309	no	coding-synonymous,coding-synonymous,coding-synonymous	SPP1	NM_000582.2,NM_001040058.1,NM_001040060.1	,,	407,2309,3787	CC,CT,TT		27.1977,17.7939,24.012	,,	80/301,94/315,67/288	88902692	3123,9883	2203	4300	6503	SO:0001819	synonymous_variant	6696	exon7			TGATGATGACCAT		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.282T>C	4.37:g.88902692T>C		Somatic	223	2		WXS	Illumina GAIIx	Phase_I	225	9	NM_001251830	0	1	186	187	0	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	ENST00000395080.3	37	CCDS43250.1																																																																																			T|0.713;C|0.287		0.433	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			C	88902692	T	C	88902692	2	2	44	1	0	0	0	0	0	0	0	1	15133	1461	51	4		4	SPP1	4	88902692	Silent	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	365614	88902692	102251584	23	9569											
OSMR	9180	broad.mit.edu;bcgsc.ca	37	chr5	38876350	38876350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatcacttaaagtttccAccaattctacgcgtcagagt	6	11	3	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:38876350A>G	ENST00000274276.3	+	3	523	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	OSMR_ENST00000502536.1_Missense_Mutation_p.T41A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	41					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAAGTTTCCACCAATTCTAC	0.363																																					p.T41A		.											.	OSMR-496	0			c.A121G						.						139	129	132					5																	38876350		2203	4300	6503	SO:0001583	missense	9180	exon3			GTTTCCACCAATT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.121A>G	5.37:g.38876350A>G	ENSP00000274276:p.Thr41Ala	Somatic	245	2		WXS	Illumina GAIIx	Phase_I	422	24	NM_001168355	0	0	3	3	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	0.653	-0.808678	0.02819	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.60424	0.19;0.19	5.11	-3.83	0.04269	.	1.187760	0.05595	N	0.575290	T	0.19127	0.0459	N	0.01576	-0.805	0.09310	N	1	B;B	0.25667	0.081;0.131	B;B	0.18871	0.021;0.023	T	0.11036	-1.0604	10	0.08381	T	0.77	.	0.2878	0.00254	0.3386:0.2617:0.1906:0.2091	.	41;41	Q99650;Q99650-2	OSMR_HUMAN;.	A	41	ENSP00000422023:T41A;ENSP00000274276:T41A	ENSP00000274276:T41A	T	+	1	0	OSMR	38912107	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.980000	0.03770	-0.636000	0.05524	-0.366000	0.07423	ACC	.		0.363	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		G	38876350	A	G	38876350	3	3	44	1	0	0	0	0	1	0	0	0	11331	159	6	4	127	4	OSMR	5	38876350	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10		38876350	142038910	24	9570											
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	56224609	56224609	+	Frame_Shift_Del	DEL	A	A	-													tttaccttattcttctgtatAagatgaaaatcttttccaaa							TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:56224609delA	ENST00000381199.3	-	10	919	c.909delT	c.(907-909)cttfs	p.L303fs	CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Frame_Shift_Del_p.L302fs|MIER3_ENST00000381226.3_Frame_Shift_Del_p.L308fs|MIER3_ENST00000409421.1_Frame_Shift_Del_p.L240fs			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCTTCTGTATAAGATGAAAAT	0.303																																					p.L302fs		.											.	MIER3-90	0			c.906delT						.						69	70	70					5																	56224609		2203	4298	6501	SO:0001589	frameshift_variant	166968	exon10			CTGTATAAGATGA	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.909delT	5.37:g.56224609delA	ENSP00000370596:p.Leu303fs	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	185	45	NM_152622	0	0	0	0	0	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Frame_Shift_Del	DEL	ENST00000381199.3	37																																																																																				.		0.303	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		-	56224609	A	-	56224609	7	5	44	1	0	1	0	1	0	0	0	0	9620	349	13	0	759	0	MIER3	5	56224609	Frame_Shift_Del	DEL	A	TCGA-OR-A5L4-01A-11D-A29I-10	17348259	56224609	124690651	25	9571											
SHROOM1	134549	broad.mit.edu	37	chr5	132160935	132160935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccgactccgactggcggGcctgaaggcatcaccgagct	13	15	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:132160935G>T	ENST00000378679.3	-	4	1702	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	SHROOM1_ENST00000378676.1_Missense_Mutation_p.P300T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P300T|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	300					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACTGGCGGGCCTGAAGGCA	0.592																																					p.P300T		.											.	SHROOM1-91	0			c.C898A						.						30	33	32					5																	132160935		2203	4300	6503	SO:0001583	missense	134549	exon1			TGGCGGGCCTGAA	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.898C>A	5.37:g.132160935G>T	ENSP00000367950:p.Pro300Thr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	109	6	NM_133456	0	0	1	1	0	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578119	0.65878	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.7	4.7	0.59300	.	0.362631	0.24720	N	0.036146	T	0.38878	0.1057	L	0.32530	0.975	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.973	T	0.11665	-1.0578	10	0.52906	T	0.07	-15.8128	13.8589	0.63548	0.0:0.0:1.0:0.0	.	300;300	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	T	300	ENSP00000367950:P300T;ENSP00000324245:P300T;ENSP00000367947:P300T;ENSP00000388049:P300T	ENSP00000324245:P300T	P	-	1	0	SHROOM1	132188834	0.006000	0.16342	0.662000	0.29724	0.016000	0.09150	0.732000	0.26072	2.542000	0.85734	0.561000	0.74099	CCC	.		0.592	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132160935	G	T	132160935	3	4	44	1	0	0	0	0	1	0	0	0	14338	1203	42	3	1688	3	SHROOM1	5	132160935	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	75936326	132160935	48754325	26	9572											
MATR3	9782	bcgsc.ca	37	chr5	138661351	138661351	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcagcccaatgttcctgttGgtgagatttaagtctttgtt	9	7	2	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:138661351G>C	ENST00000394805.3	+	13	2706	c.2371G>C	c.(2371-2373)Ggt>Cgt	p.G791R	MATR3_ENST00000503811.1_Splice_Site_p.G503R|MATR3_ENST00000394800.2_Splice_Site_p.G839R|MATR3_ENST00000510056.1_Splice_Site_p.E791Q|MATR3_ENST00000509990.1_Splice_Site_p.G791R|MATR3_ENST00000502499.1_Splice_Site_p.G453R|MATR3_ENST00000504203.1_Splice_Site_p.G453R|MATR3_ENST00000361059.2_Splice_Site_p.G791R|MATR3_ENST00000502929.1_Splice_Site_p.G839R	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	791					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTTCCTGTTGGTGAGATTTA	0.373																																					p.G791R		.											.	MATR3-91	0			c.G2371C						.						124	108	114					5																	138661351		2203	4300	6503	SO:0001630	splice_region_variant	9782	exon13			CCTGTTGGTGAGA	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2371+1G>C	5.37:g.138661351G>C		Somatic	245	0		WXS	Illumina GAIIx	Phase_I	367	10	NM_018834	0	0	2	8	6	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.75|18.75	3.691431|3.691431	0.68271|0.68271	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000510056|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000503811;ENST00000337359	T|T;T;T;T;T;T;T;T	0.72282|0.79749	-0.64|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.046521	.|0.85682	.|D	.|0.000000	D|D	0.88370|0.88370	0.6418|0.6418	M|M	0.79475|0.79475	2.455|2.455	0.48901|0.48901	D|D	0.999726|0.999726	P|P;P;D;D	0.39094|0.76494	0.659|0.89;0.89;0.958;0.999	B|B;B;P;D	0.42959|0.72982	0.403|0.381;0.381;0.642;0.979	D|D	0.89511|0.89511	0.3771|0.3771	9|10	0.87932|0.87932	D|D	0|0	-7.1019|-7.1019	12.4462|12.4462	0.55651|0.55651	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	791|503;503;839;791	D6REM6|B7ZAV5;B4DRS1;A8MXP9;P43243	.|.;.;.;MATR3_HUMAN	Q|R	791|791;791;453;839;839;791;453;503;227	ENSP00000426743:E791Q|ENSP00000423533:G791R;ENSP00000354346:G791R;ENSP00000421218:G453R;ENSP00000422319:G839R;ENSP00000378279:G839R;ENSP00000378284:G791R;ENSP00000426030:G453R;ENSP00000423587:G503R	ENSP00000426743:E791Q|ENSP00000338208:G227R	E|G	+|+	1|1	0|0	MATR3|MATR3	138689250|138689250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.771000|6.771000	0.74996|0.74996	2.384000|2.384000	0.81235|0.81235	0.591000|0.591000	0.81541|0.81541	GAA|GGT	.		0.373	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	Missense_Mutation	C	138661351	G	C	138661351	5	2	44	1	0	0	0	0	0	0	1	0	9375	1362	47	3	2417	3	MATR3	5	138661351	Splice_Site	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	6500416	138661351	42253909	27	9573											
DND1	373863	ucsc.edu	37	chr5	140052407	140052407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccacgcgctggaacagcGggataagctggtgctcgtac	15	12	0	0	rs72800920		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:140052407G>A	ENST00000542735.1	-	3	270	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P76L(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACAGCGGGATAAGCTG	0.667																																					p.P76L		.											.	DND1-90	1	Substitution - Missense(1)	prostate(1)	c.C227T						.						13	20	17					5																	140052407		2184	4291	6475	SO:0001583	missense	373863	exon3			AACAGCGGGATAA	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.227C>T	5.37:g.140052407G>A	ENSP00000445366:p.Pro76Leu	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	50	6	NM_194249	0	0	0	0	0		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250143	0.80024	.	.	ENSG00000256453	ENST00000542735	T	0.15718	2.4	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000003	T	0.51058	0.1652	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60403	-0.7270	10	0.87932	D	0	-9.8139	18.6578	0.91460	0.0:0.0:1.0:0.0	.	76	Q8IYX4	DND1_HUMAN	L	76	ENSP00000445366:P76L	ENSP00000445366:P76L	P	-	2	0	DND1	140032591	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.637000	0.98443	2.499000	0.84300	0.467000	0.42956	CCG	.		0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		A	140052407	G	A	140052407	3	1	44	1	0	0	0	0	1	0	0	0	4680	1116	39	1	842	1	DND1	5	140052407	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	1391056	140052407	40862853	28	9574											
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140182624	140182624	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgtatgagctgcagcctggGaccggcggtgcgcgcatccc	15	14	0	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:140182624G>T	ENST00000522353.2	+	1	1842	c.1842G>T	c.(1840-1842)ggG>ggT	p.G614G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G614G	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	614	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)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCTGGGACCGGCGGTG	0.682																																					p.G614G		.											.	PCDHA3-98	0			c.G1842T						.						83	82	83					5																	140182624		2203	4300	6503	SO:0001819	synonymous_variant	56145	exon1			GCCTGGGACCGGC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1842G>T	5.37:g.140182624G>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	368	80	NM_031497	0	0	0	0	0	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			.		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140182624	G	T	140182624	2	4	44	1	0	0	0	0	0	0	0	1	11564	1161	41	3		3	PCDHA3	5	140182624	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	130217	140182624	40732636	29	9575											
ATP10B	23120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	160025960	160025960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagaactgataccagaaGagcaggttgacgtagcactg	12	8	0	6	rs370433512		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:160025960G>A	ENST00000327245.5	-	22	4227	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1127					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)			GATACCAGAAGAGCAGGTTGA	0.532																																					p.L1127L		.											.	ATP10B-72	0			c.C3381T						.	G		1,4201		0,1,2100	81	82	82		3381	2.5	1	5		82	0,8464		0,0,4232	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6332	AA,AG,GG		0.0,0.0238,0.0079		1127/1462	160025960	1,12665	2101	4232	6333	SO:0001819	synonymous_variant	23120	exon22			CCAGAAGAGCAGG	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.3381C>T	5.37:g.160025960G>A		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	168	88	NM_025153	0	0	0	0	0	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																			.		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160025960	G	A	160025960	2	1	44	1	0	0	0	0	0	0	0	1	1118	929	33	3		3	ATP10B	5	160025960	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	19843336	160025960	20889300	30	9576											
CDHR2	54825	broad.mit.edu;bcgsc.ca	37	chr5	175995994	175995994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcaccatctccgtgAgcgacccctacatccaggtg	8	15	3	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr5:175995994A>G	ENST00000510636.1	+	5	572	c.298A>G	c.(298-300)Agc>Ggc	p.S100G	CDHR2_ENST00000506348.1_Missense_Mutation_p.S100G|CDHR2_ENST00000261944.5_Missense_Mutation_p.S100G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CATCTCCGTGAGCGACCCCTA	0.632																																					p.S100G		.											.	CDHR2-70	0			c.A298G						.						74	69	71					5																	175995994		2203	4300	6503	SO:0001583	missense	54825	exon5			TCCGTGAGCGACC	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.298A>G	5.37:g.175995994A>G	ENSP00000424565:p.Ser100Gly	Somatic	73	2		WXS	Illumina GAIIx	Phase_I	107	40	NM_017675	0	0	0	0	0	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478925	0.26511	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.62232	0.04;0.04;0.04	3.31	3.31	0.37934	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64427	0.2597	M	0.92923	3.36	0.09310	N	0.999999	P	0.39282	0.666	B	0.35039	0.194	T	0.61686	-0.7012	9	0.35671	T	0.21	-12.8113	6.1007	0.20045	0.751:0.0:0.0:0.249	.	100	Q9BYE9	CDHR2_HUMAN	G	100	ENSP00000424565:S100G;ENSP00000261944:S100G;ENSP00000421078:S100G	ENSP00000261944:S100G	S	+	1	0	CDHR2	175928600	0.001000	0.12720	0.285000	0.24819	0.044000	0.14063	0.550000	0.23345	1.759000	0.51996	0.454000	0.30748	AGC	.		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		G	175995994	A	G	175995994	3	3	44	1	0	0	0	0	1	0	0	0	3126	304	11	4	312	4	CDHR2	5	175995994	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	15970034	175995994	4919266	31	9577											
ATXN1	6310	broad.mit.edu	37	chr6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC													gccccggagccctgctgaggINStgctgctgctgctgctgctg							TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		.											.	ATXN1-93	0			c.678_679insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	55	0	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327865	-	TGC	16327864	7	5	44	1	0	1	1	0	0	0	0	0	1210	1252	44	0	1777	0	ATXN1	6	16327864	In_Frame_Ins	INS	-	TCGA-OR-A5L4-01A-11D-A29I-10		16327864	154787203	32	9578											
BEND3	57673	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	107391692	107391692	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggaatttggccaccatctCagtggggctcacctgcttct	10	13	3	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:107391692C>T	ENST00000369042.1	-	4	893	c.703G>A	c.(703-705)Gag>Aag	p.E235K	BEND3_ENST00000429433.2_Missense_Mutation_p.E235K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	235										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCACCATCTCAGTGGGGCTC	0.617																																					p.E235K		.											.	BEND3-71	0			c.G703A						.						73	60	64					6																	107391692		2203	4300	6503	SO:0001583	missense	57673	exon5			CCATCTCAGTGGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.703G>A	6.37:g.107391692C>T	ENSP00000358038:p.Glu235Lys	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	206	16	NM_001080450	0	0	0	0	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389151	0.61956	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	.	0.057327	0.64402	D	0.000002	T	0.42404	0.1201	L	0.29908	0.895	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.49799	-0.8901	9	0.66056	D	0.02	-10.2117	19.1834	0.93632	0.0:1.0:0.0:0.0	.	235	Q5T5X7	BEND3_HUMAN	K	235	.	ENSP00000358038:E235K	E	-	1	0	BEND3	107498385	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.219000	0.78000	2.774000	0.95407	0.561000	0.74099	GAG	.		0.617	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		T	107391692	C	T	107391692	3	4	44	1	0	0	0	0	1	0	0	0	1400	835	29	3	1787	3	BEND3	6	107391692	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	91063828	107391692	63723375	33	9579											
ECT2L	345930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	139189242	139189242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggccttgtatttacagggCagtttatgtttgacaccatg	11	7	0	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr6:139189242C>A	ENST00000423192.1	+	12	1638	c.1477C>A	c.(1477-1479)Cag>Aag	p.Q493K	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q424K|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q493K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	493							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTACAGGGCAGTTTATGTT	0.363			"N, Splice, Mis"		ETP ALL																																p.Q493K		.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L-22	0			c.C1477A						.						90	83	85					6																	139189242		1874	4116	5990	SO:0001583	missense	345930	exon12			ACAGGGCAGTTTA		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1477C>A	6.37:g.139189242C>A	ENSP00000387388:p.Gln493Lys	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	176	22	NM_001195037	0	0	0	0	0	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331048	0.41297	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75477	0.17;0.17;-0.94	5.77	5.77	0.91146	.	0.184360	0.23589	U	0.046562	T	0.77110	0.4082	M	0.68952	2.095	0.34277	D	0.681726	D;D	0.58268	0.982;0.97	P;P	0.55615	0.78;0.607	T	0.77550	-0.2546	10	0.40728	T	0.16	-0.4418	16.9027	0.86117	0.0:1.0:0.0:0.0	.	424;493	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	493;493;424	ENSP00000387388:Q493K;ENSP00000356655:Q493K;ENSP00000442307:Q424K	ENSP00000356655:Q493K	Q	+	1	0	ECT2L	139230935	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	2.874000	0.48483	2.729000	0.93468	0.655000	0.94253	CAG	.		0.363	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139189242	C	A	139189242	3	1	44	1	0	0	0	0	1	0	0	0	4916	711	25	3	1519	3	ECT2L	6	139189242	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	31797550	139189242	31925825	34	9580											
CPVL	54504	broad.mit.edu;bcgsc.ca	37	chr7	29135786	29135786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacatggatgaacctccCggcccaccctgtagccagag	9	16	0	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:29135786C>T	ENST00000409850.1	-	8	982	c.336G>A	c.(334-336)ccG>ccA	p.P112P	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000396276.3_Silent_p.P112P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112						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						ATGAACCTCCCGGCCCACCCT	0.463																																					p.P112P		.											.	CPVL-92	0			c.G336A						.						144	135	138					7																	29135786		2203	4300	6503	SO:0001819	synonymous_variant	54504	exon4			ACCTCCCGGCCCA	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.336G>A	7.37:g.29135786C>T		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	202	10	NM_019029	0	0	7	7	0	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	CCDS5419.1																																																																																			.		0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29135786	C	T	29135786	2	4	44	1	0	0	0	0	0	0	0	1	3842	639	23	1		1	CPVL	7	29135786	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10		29135786	130002877	35	9581											
CUX1	1523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	101758537	101758537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctgaaaaccaaatacgatGaagaaactactgcaaagtaa	6	8	0	3			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:101758537G>A	ENST00000292535.7	+	8	696	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	CUX1_ENST00000556210.1_Missense_Mutation_p.E220K|CUX1_ENST00000546411.2_Missense_Mutation_p.E220K|CUX1_ENST00000292538.4_Missense_Mutation_p.E231K|CUX1_ENST00000550008.2_Missense_Mutation_p.E220K|CUX1_ENST00000393824.3_Missense_Mutation_p.E194K|CUX1_ENST00000437600.4_Missense_Mutation_p.E231K|CUX1_ENST00000360264.3_Missense_Mutation_p.E231K|CUX1_ENST00000549414.2_Missense_Mutation_p.E220K|CUX1_ENST00000547394.2_Missense_Mutation_p.E215K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E185K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	220					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						CAAATACGATGAAGAAACTAC	0.378																																					p.E231K		.											.	CUX1-160	0			c.G691A						.						116	111	113					7																	101758537		2203	4300	6503	SO:0001583	missense	1523	exon8			TACGATGAAGAAA	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.658G>A	7.37:g.101758537G>A	ENSP00000292535:p.Glu220Lys	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	153	24	NM_181500	0	0	24	26	2	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658350	0.88154	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;D;T;T;T	0.84070	0.94;0.94;0.94;1.3;0.94;0.94;-1.8;0.94;0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	L	0.60455	1.87	0.58432	D	0.999999	P;D;D;D;D;P;D	0.89917	0.929;0.997;0.982;1.0;1.0;0.825;0.998	P;D;D;D;D;P;D	0.85130	0.591;0.98;0.952;0.989;0.997;0.518;0.991	D	0.89438	0.3721	10	0.54805	T	0.06	-25.9141	20.2228	0.98330	0.0:0.0:1.0:0.0	.	194;220;185;215;231;231;231	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	231;215;231;185;231;220;220;220;220;220	ENSP00000292538:E231K;ENSP00000449371:E215K;ENSP00000353401:E231K;ENSP00000409745:E185K;ENSP00000414091:E231K;ENSP00000292535:E220K;ENSP00000446630:E220K;ENSP00000447373:E220K;ENSP00000450125:E220K;ENSP00000451558:E220K	ENSP00000292535:E220K	E	+	1	0	CUX1	101545257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAA	.		0.378	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101758537	G	A	101758537	3	1	44	1	0	0	0	0	1	0	0	0	4073	1291	45	3	755	3	CUX1	7	101758537	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	72622751	101758537	57380126	36	9582											
PRKAG2	51422	ucsc.edu;bcgsc.ca	37	chr7	151261307	151261307	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtatgttttctcagcagcaaGattctgtaatgaagcaagag	10	6	2	3			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr7:151261307G>T	ENST00000287878.4	-	14	1945	c.1441C>A	c.(1441-1443)Ctt>Att	p.L481I	PRKAG2_ENST00000433631.2_Missense_Mutation_p.L356I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L357I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.L240I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L437I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	481	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCAGCAGCAAGATTCTGTAAT	0.373																																					p.L481I		.											.	PRKAG2-658	0			c.C1441A						.						152	140	145					7																	151261307		2203	4300	6503	SO:0001583	missense	51422	exon14			CAGCAAGATTCTG	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1441C>A	7.37:g.151261307G>T	ENSP00000287878:p.Leu481Ile	Somatic	138	3		WXS	Illumina GAIIx	Phase_I	164	82	NM_016203	0	0	0	0	0	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187403	0.78789	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84	5.77	5.77	0.91146	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.71920	2.185	0.80722	D	1	B;D;B	0.69078	0.395;0.997;0.373	P;D;P	0.65987	0.764;0.94;0.612	D	0.94619	0.7811	10	0.62326	D	0.03	.	18.9796	0.92751	0.0:0.0:1.0:0.0	.	356;14;481	B7Z6X8;Q5H9N7;Q9UGJ0	.;.;AAKG2_HUMAN	I	240;481;357;356;437	ENSP00000387386:L240I;ENSP00000287878:L481I;ENSP00000419577:L357I;ENSP00000406544:L356I;ENSP00000376549:L437I	ENSP00000287878:L481I	L	-	1	0	PRKAG2	150892240	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.060000	0.64312	2.723000	0.93209	0.655000	0.94253	CTT	.		0.373	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		T	151261307	G	T	151261307	3	4	44	1	0	0	0	0	1	0	0	0	12543	942	33	3	280	3	PRKAG2	7	151261307	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	49502770	151261307	7877356	37	9583											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	44	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		8560536	137803486	38	9584											
AMAC1L2	83650	bcgsc.ca	37	chr8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgacatccgaggcTgggcctgcttctgtgccctg	12	15	1	1	rs76944947	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																					p.W103R		.											.	.	1	Substitution - Missense(1)	pancreas(1)	c.T307C						.						216	216	216					8																	11188922		2203	4300	6503	SO:0001583	missense	83650	exon1			CGAGGCTGGGCCT	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg	Somatic	207	3		WXS	Illumina GAIIx	Phase_I	194	15	NM_054028	0	0	0	0	0	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	T|0.975;C|0.025		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		C	11188922	T	C	11188922	3	2	44	1	0	0	0	0	1	0	0	0	560	1580	55	4	309	4	AMAC1L2	8	11188922	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	2628386	11188922	135175100	39	9585											
XPO7	23039	bcgsc.ca	37	chr8	21846586	21846586	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcttctcaatgacctGtccattggatatccttttct	5	12	2	1	rs2306646	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:21846586G>C	ENST00000252512.9	+	16	1960	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	XPO7_ENST00000434536.1_Silent_p.L629L|XPO7_ENST00000433566.4_Silent_p.L621L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	620					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCAATGACCTGTCCATTGGAT	0.438													C|||	2900	0.579073	0.764	0.4352	5008	,	,		18527	0.5238		0.6014	False		,,,				2504	0.4652				p.L620L		.											.	XPO7-273	0			c.G1860C						.	C		2808,1032		1041,726,153	97	104	102		1860	2	1	8	dbSNP_100	102	4557,3707		1263,2031,838	no	coding-synonymous	XPO7	NM_015024.4		2304,2757,991	CC,CG,GG		44.8572,26.875,39.1523		620/1088	21846586	7365,4739	1920	4132	6052	SO:0001819	synonymous_variant	23039	exon16			TGACCTGTCCATT	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1860G>C	8.37:g.21846586G>C		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	125	6	NM_015024	0	0	0	0	0	O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	CCDS47818.1																																																																																			G|0.404;C|0.596		0.438	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		C	21846586	G	C	21846586	2	2	44	1	0	0	0	0	0	0	0	1	17498	1364	48	3		3	XPO7	8	21846586	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	10657664	21846586	124517436	40	9586											
XPO7	23039	bcgsc.ca	37	chr8	21862551	21862551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgagaagtcaacgactcAatgaagaattccacttatgg	9	9	2	3	rs1058486	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:21862551A>G	ENST00000252512.9	+	28	3316	c.3216A>G	c.(3214-3216)tcA>tcG	p.S1072S	XPO7_ENST00000434536.1_Silent_p.S1081S|XPO7_ENST00000433566.4_Silent_p.S1073S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	1072					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCAACGACTCAATGAAGAATT	0.522													G|||	2894	0.577875	0.7632	0.4352	5008	,	,		19393	0.5268		0.5994	False		,,,				2504	0.4591				p.S1072S		.											.	XPO7-273	0			c.A3216G						.	G		2957,1095		1097,763,166	150	151	151		3216	-1.1	1	8	dbSNP_86	151	4638,3738		1290,2058,840	no	coding-synonymous	XPO7	NM_015024.4		2387,2821,1006	GG,GA,AA		44.6275,27.0237,38.888		1072/1088	21862551	7595,4833	2026	4188	6214	SO:0001819	synonymous_variant	23039	exon28			CGACTCAATGAAG	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.3216A>G	8.37:g.21862551A>G		Somatic	120	2		WXS	Illumina GAIIx	Phase_I	109	7	NM_015024	0	0	25	25	0	O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	CCDS47818.1																																																																																			A|0.407;G|0.593		0.522	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		G	21862551	A	G	21862551	2	3	44	1	0	0	0	0	0	0	0	1	17498	117	5	4		4	XPO7	8	21862551	Silent	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	15965	21862551	124501471	41	9587											
PLAT	5327	broad.mit.edu	37	chr8	42044953	42044953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggcccagcctgatggCgtctggcctccgcccgctgt	12	19	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:42044953C>A	ENST00000220809.4	-	6	758	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	PLAT_ENST00000270189.6_Missense_Mutation_p.A168S|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.A168S|PLAT_ENST00000352041.3_Missense_Mutation_p.A122S	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	168	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	AGCCTGATGGCGTCTGGCCTC	0.637																																					p.A168S		.											.	PLAT-226	0			c.G502T						.						44	44	44					8																	42044953		2203	4300	6503	SO:0001583	missense	5327	exon6			TGATGGCGTCTGG		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.502G>T	8.37:g.42044953C>A	ENSP00000220809:p.Ala168Ser	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	28	4	NM_000930	0	0	1	1	0	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925585	0.73213	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	M	0.70275	2.135	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.99	D;D;D	0.73380	0.98;0.957;0.975	T	0.79524	-0.1768	10	0.42905	T	0.14	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	168;122;168	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	S	168;168;168;122;168	ENSP00000270189:A168S;ENSP00000392045:A168S;ENSP00000220809:A168S;ENSP00000270188:A122S;ENSP00000428797:A168S	ENSP00000220809:A168S	A	-	1	0	PLAT	42164110	0.999000	0.42202	0.642000	0.29436	0.022000	0.10575	4.157000	0.58144	2.824000	0.97209	0.655000	0.94253	GCC	.		0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		A	42044953	C	A	42044953	3	1	44	1	0	0	0	0	1	0	0	0	12060	768	27	2	1222	2	PLAT	8	42044953	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	20182402	42044953	104319069	42	9588											
OPRK1	4986	hgsc.bcm.edu	37	chr8	54163562	54163562	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcgcaggtagggccCggctccccgcggaagatctg	17	14	1	1	rs1051660	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6	9	8		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		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.36G>T	8.37:g.54163562C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54163562	C	A	54163562	2	1	44	1	0	0	0	0	0	0	0	1	10924	639	23	2		2	OPRK1	8	54163562	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	12118609	54163562	92200460	43	9589											
PLEC	5339	hgsc.bcm.edu	37	chr8	144999417	144999417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccacctgtacctgccgCgctcgctccacctcggcctg	11	19	0	0	rs55836855	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000345136.3_Silent_p.A1560A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6	7	7		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	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.5091G>A	8.37:g.144999417C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144999417	C	T	144999417	2	4	44	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	144999417	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	90835855	144999417	1364605	44	9590											
SCRT1	83482	hgsc.bcm.edu	37	chr8	145557497	145557497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagggagcggcggcagAgccggcattggaagccttac	18	9	0	1	rs7013127	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr8:145557497A>C	ENST00000332135.4	-	2	508	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	133			S -> A (in dbSNP:rs7013127). {ECO:0000269|Ref.2}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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)|upper_aerodigestive_tract(1)	3	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;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGCGGCAGAGCCGGCATTG	0.776													c|||	4719	0.942292	0.9418	0.9568	5008	,	,		3920	0.9921		0.8956	False		,,,				2504	0.9294				p.S133A		.											.	.	0			c.T397G						.						1	1	1					8																	145557497		634	1472	2106	SO:0001583	missense	83482	exon2			CGGCAGAGCCGGC	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.397T>G	8.37:g.145557497A>C	ENSP00000331692:p.Ser133Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_031309	0	0	0	0	0	A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	CCDS6421.1	1975	0.9043040293040293	396	0.8048780487804879	339	0.93646408839779	552	0.965034965034965	688	0.9076517150395779	c	0.007	-1.995963	0.00435	.	.	ENSG00000170616	ENST00000332135	T	0.06933	3.24	0.926	-0.0566	0.13805	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.05525	T	0.97	5.8842	6.2142	0.20646	0.3034:0.6966:0.0:0.0	rs7013127	133	Q9BWW7	SCRT1_HUMAN	A	133	ENSP00000331692:S133A	ENSP00000331692:S133A	S	-	1	0	SCRT1	145528305	.	.	0.675000	0.29917	0.381000	0.30169	.	.	-1.712000	0.01393	-3.289000	0.00047	TCT	A|0.096;C|0.904		0.776	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		C	145557497	A	C	145557497	3	2	44	1	0	0	0	0	1	0	0	0	13986	304	11	5	653	5	SCRT1	8	145557497	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	558080	145557497	806525	45	9591											
KLF4	9314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	110251263	110251293	+	Frame_Shift_Del	DEL	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	-													tctcccttcccgccgggccaGacgcgaacgtggagaaagat					rs143360314		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:110251263_110251293delGACGCGAACGTGGAGAAAGATGGGAGCAGCG	ENST00000374672.4	-	2	517_547	c.44_74delCGCTGCTCCCATCTTTCTCCACGTTCGCGTC	c.(43-75)gcgctgctcccatctttctccacgttcgcgtctfs	p.ALLPSFSTFAS15fs		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	15					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGCCGGGCCAGACGCGAACGTGGAGAAAGATGGGAGCAGCGCGTCGCTGAC	0.667																																					p.15_25del		.											.	KLF4-651	0			c.44_74del						.																																			SO:0001589	frameshift_variant	9314	exon2			GGGCCAGACGCGA	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.44_74delCGCTGCTCCCATCTTTCTCCACGTTCGCGTC	9.37:g.110251263_110251293delGACGCGAACGTGGAGAAAGATGGGAGCAGCG	ENSP00000363804:p.Ala15fs	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	171	11	NM_004235	0	0	0	0	0	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Frame_Shift_Del	DEL	ENST00000374672.4	37	CCDS6770.2																																																																																			.		0.667	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		-	110251293	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	-	110251263	7	5	44	1	0	1	0	1	0	0	0	0	8375	942	33	0	1381	0	KLF4	9	110251263	Frame_Shift_Del	DEL	GACGCGAACGTGGAGAAAGATGGGAGCAGCG	TCGA-OR-A5L4-01A-11D-A29I-10		110251263	30962168	46	9592											
EPB41L4B	54566	hgsc.bcm.edu	37	chr9	112082492	112082492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggtggccttggcggcgcCggcggcggagatgtgcacgg	22	10	0	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:112082492C>A	ENST00000374566.3	-	1	752	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G79C	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	79					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGCGGCGCCGGCGGCGGAG	0.771																																					p.G79C		.											.	EPB41L4B-92	0			c.G235T						.						3	4	4					9																	112082492		1635	3597	5232	SO:0001583	missense	54566	exon1			CGGCGCCGGCGGC	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.235G>T	9.37:g.112082492C>A	ENSP00000363694:p.Gly79Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	57	47	NM_019114	0	0	0	0	0	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.576689	0.45902	.	.	ENSG00000095203	ENST00000374566;ENST00000374557	D;D	0.84370	-1.82;-1.84	2.94	2.94	0.34122	.	.	.	.	.	D	0.87014	0.6072	L	0.32530	0.975	0.36954	D	0.893025	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	D	0.88996	0.3418	9	0.62326	D	0.03	.	12.069	0.53605	0.0:1.0:0.0:0.0	.	79;79	Q9H329-2;Q9H329	.;E41LB_HUMAN	C	79	ENSP00000363694:G79C;ENSP00000363685:G79C	ENSP00000363685:G79C	G	-	1	0	EPB41L4B	111122313	0.998000	0.40836	0.915000	0.36163	0.000000	0.00434	6.721000	0.74728	1.467000	0.48044	0.000000	0.15137	GGC	.		0.771	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		A	112082492	C	A	112082492	3	1	44	1	0	0	0	0	1	0	0	0	5172	652	23	2	2723	2	EPB41L4B	9	112082492	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	1831229	112082492	29130939	47	9593											
ENTPD8	377841	broad.mit.edu	37	chr9	140329710	140329710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaacccgtagccctcGtgcaggagggtgaggatgta	15	10	0	2	rs202080880		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr9:140329710G>T	ENST00000472938.1	-	8	1258	c.1242C>A	c.(1240-1242)caC>caA	p.H414Q	ENTPD8_ENST00000344119.2_Missense_Mutation_p.H377Q|ENTPD8_ENST00000371506.2_Missense_Mutation_p.H414Q			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	414					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CGTAGCCCTCGTGCAGGAGGG	0.692																																					p.H414Q		.											.	ENTPD8-91	0			c.C1242A						.						49	46	47					9																	140329710		2200	4299	6499	SO:0001583	missense	377841	exon9			GCCCTCGTGCAGG	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1242C>A	9.37:g.140329710G>T	ENSP00000420531:p.His414Gln	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	107	4	NM_001033113	0	0	0	0	0	A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.603529	0.00849	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12774	2.65;2.65;2.65	4.32	-8.64	0.00874	.	3.193890	0.01153	N	0.006470	T	0.11495	0.0280	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.0;0.004	T	0.23332	-1.0191	10	0.48119	T	0.1	-0.9913	2.772	0.05337	0.2068:0.4396:0.2152:0.1383	.	377;414	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	Q	377;414;414	ENSP00000344089:H377Q;ENSP00000360561:H414Q;ENSP00000420531:H414Q	ENSP00000344089:H377Q	H	-	3	2	ENTPD8	139449531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.097000	0.00014	-5.921000	0.00008	-3.025000	0.00073	CAC	G|0.999;A|0.000		0.692	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		T	140329710	G	T	140329710	3	4	44	1	0	0	0	0	1	0	0	0	5161	1136	40	2	253	2	ENTPD8	9	140329710	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	28247218	140329710	883721	48	9594											
GPR158	57512	broad.mit.edu	37	chr10	25861657	25861657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatgaggatgctggcaGtaatactcttggtagtgttt	14	5	2	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr10:25861657G>T	ENST00000376351.3	+	7	1953	c.1594G>T	c.(1594-1596)Gta>Tta	p.V532L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	532					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GATGCTGGCAGTAATACTCTT	0.433																																					p.V532L		.											.	GPR158-141	0			c.G1594T						.						260	187	212					10																	25861657		2203	4300	6503	SO:0001583	missense	57512	exon7			CTGGCAGTAATAC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1594G>T	10.37:g.25861657G>T	ENSP00000365529:p.Val532Leu	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	120	3	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679045	0.47886	.	.	ENSG00000151025	ENST00000376351	D	0.85773	-2.03	5.78	5.78	0.91487	GPCR, family 3, C-terminal (2);	0.206931	0.33631	N	0.004720	D	0.84061	0.5389	L	0.32530	0.975	0.42251	D	0.991976	B	0.32302	0.363	P	0.44647	0.456	T	0.77627	-0.2517	10	0.09338	T	0.73	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	532	Q5T848	GP158_HUMAN	L	532	ENSP00000365529:V532L	ENSP00000365529:V532L	V	+	1	0	GPR158	25901663	0.997000	0.39634	0.735000	0.30896	0.992000	0.81027	2.316000	0.43761	2.736000	0.93811	0.557000	0.71058	GTA	.		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25861657	G	T	25861657	3	4	44	1	0	0	0	0	1	0	0	0	6689	1029	36	3	1620	3	GPR158	10	25861657	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		25861657	109673090	49	9595											
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	116225545	116225545	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttgatggagccctggctCgtggaccgatggatcatccg	15	10	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr10:116225545C>T	ENST00000277895.5	-	12	1450	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	ABLIM1_ENST00000369266.3_Silent_p.T163T|ABLIM1_ENST00000533213.2_Silent_p.T391T|ABLIM1_ENST00000369253.2_Silent_p.T109T|ABLIM1_ENST00000369252.4_Silent_p.T391T|ABLIM1_ENST00000392952.3_Silent_p.T163T	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	451					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGCCCTGGCTCGTGGACCGAT	0.562																																					p.T451T		.											.	ABLIM1-153	0			c.G1353A						.						221	199	206					10																	116225545		2203	4300	6503	SO:0001819	synonymous_variant	3983	exon12			CTGGCTCGTGGAC	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1353G>A	10.37:g.116225545C>T		Somatic	176	0		WXS	Illumina GAIIx	Phase_I	137	55	NM_002313	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033638	0.19590	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.41	-8.2	0.01045	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39396	-0.9616	4	.	.	.	.	0.4234	0.00460	0.3467:0.1462:0.2234:0.2836	.	.	.	.	Q	360	.	.	R	-	2	0	ABLIM1	116215535	0.731000	0.28111	0.573000	0.28510	0.943000	0.58893	-0.181000	0.09740	-1.655000	0.01497	-2.366000	0.00237	CGA	.		0.562	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			T	116225545	C	T	116225545	2	4	44	1	0	0	0	0	0	0	0	1	94	871	31	1		1	ABLIM1	10	116225545	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	90363888	116225545	19309202	50	9596											
KRTAP5-4	387267	bcgsc.ca	37	chr11	1643204	1643204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccacagccGgagccacagcccccacagcc	9	22	0	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:1643204G>A	ENST00000399682.1	-	1	164	c.120C>T	c.(118-120)tcC>tcT	p.S40S		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)		ccccacagccggagccacagc	0.692																																					p.S40S		.											.	.	0			c.C120T						.						5	13	11					11																	1643204		513	1327	1840	SO:0001819	synonymous_variant	387267	exon1			ACAGCCGGAGCCA	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.120C>T	11.37:g.1643204G>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	92	20	NM_001012709	0	0	1	1	0		Silent	SNP	ENST00000399682.1	37																																																																																				.		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643204	G	A	1643204	2	1	44	1	0	0	0	0	0	0	0	1	8591	1103	39	1		1	KRTAP5-4	11	1643204	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		1643204	133363312	51	9597											
OR52N1	79473	bcgsc.ca	37	chr11	5809746	5809746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacaaagaacatctgggCgaggcaggctttaaaatcaa	11	8	2	1	rs10742787	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:5809746C>T	ENST00000317078.1	-	1	300	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	101			A -> T (in dbSNP:rs10742787).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACATCTGGGCGAGGCAGGCT	0.507													C|||	1612	0.321885	0.4584	0.2738	5008	,	,		24308	0.2004		0.332	False		,,,				2504	0.2863				p.A101T		.											.	OR52N1-69	0			c.G301A						.	C	THR/ALA	1899,2503	544.9+/-376.7	400,1099,702	150	138	142		301	1.5	0.7	11	dbSNP_120	142	2639,5953	424.9+/-354.8	396,1847,2053	yes	missense	OR52N1	NM_001001913.1	58	796,2946,2755	TT,TC,CC		30.7146,43.1395,34.9238	benign	101/321	5809746	4538,8456	2201	4296	6497	SO:0001583	missense	79473	exon1			TCTGGGCGAGGCA	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.301G>A	11.37:g.5809746C>T	ENSP00000322823:p.Ala101Thr	Somatic	164	1		WXS	Illumina GAIIx	Phase_I	152	6	NM_001001913	0	0	0	0	0	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	668	0.3058608058608059	218	0.44308943089430897	94	0.2596685082872928	109	0.19055944055944055	247	0.3258575197889182	C	0.012	-1.671662	0.00758	0.431395	0.307146	ENSG00000181001	ENST00000317078	T	0.03004	4.08	4.59	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.426972	0.19690	N	0.108285	T	0.00012	0.0000	N	0.10972	0.075	0.54753	P	1.8999999999991246E-5	B	0.06786	0.001	B	0.08055	0.003	T	0.43940	-0.9360	9	0.02654	T	1	.	3.9046	0.09177	0.1428:0.577:0.1179:0.1623	rs10742787;rs59383013;rs10742787	101	Q8NH53	O52N1_HUMAN	T	101	ENSP00000322823:A101T	ENSP00000322823:A101T	A	-	1	0	OR52N1	5766322	0.000000	0.05858	0.731000	0.30826	0.146000	0.21551	-2.069000	0.01381	-0.010000	0.14271	-0.921000	0.02739	GCC	C|0.675;T|0.325		0.507	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		T	5809746	C	T	5809746	3	4	44	1	0	0	0	0	1	0	0	0	11166	768	27	1	664	1	OR52N1	11	5809746	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	4166542	5809746	129196770	52	9598											
EIF3F	8665	hgsc.bcm.edu	37	chr11	8009015	8009015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctgcggctccggttcCcgctgcggctccagcctcat	12	18	1	0	rs1043738	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:8009015C>T	ENST00000533626.1	+	3	742	c.116C>T	c.(115-117)cCc>cTc	p.P39L	EIF3F_ENST00000537635.1_Missense_Mutation_p.P54L|EIF3F_ENST00000309828.4_Missense_Mutation_p.P39L|EIF3F_ENST00000449102.2_5'UTR					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		gctccggttcccgctgcggct	0.721											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	166	0.033147	0.0779	0.0288	5008	,	,		11578	0		0.0358	False		,,,				2504	0.0072				p.P39L		.											.	EIF3F-500	0			c.C116T						.						15	18	17					11																	8009015		1599	3496	5095	SO:0001583	missense	8665	exon1			CGGTTCCCGCTGC	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.116C>T	11.37:g.8009015C>T	ENSP00000431800:p.Pro39Leu	Somatic	0	0	646	WXS	Illumina GAIIx	Phase_I	6	6	NM_003754	0	0	7	88	81		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	80	0.03663003663003663	36	0.07317073170731707	13	0.03591160220994475	0	0.0	31	0.040897097625329816	c	5.951	0.359529	0.11239	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828	T;T;T	0.48522	0.81;1.63;0.81	2.96	2.05	0.26809	.	0.606524	0.14392	N	0.322479	T	0.02455	0.0075	L	0.29908	0.895	0.26254	N	0.978683	B	0.28378	0.209	B	0.26094	0.066	T	0.04307	-1.0961	10	0.18710	T	0.47	-8.1011	8.28	0.31896	0.0:0.8759:0.0:0.1241	rs1043738;rs2230556;rs3183384;rs11538181	39	O00303	EIF3F_HUMAN	L	39;54;39	ENSP00000431800:P39L;ENSP00000442283:P54L;ENSP00000310040:P39L	ENSP00000310040:P39L	P	+	2	0	EIF3F	7965591	0.136000	0.22515	0.002000	0.10522	0.010000	0.07245	1.371000	0.34250	0.847000	0.35167	0.544000	0.68410	CCC	C|0.964;T|0.036		0.721	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		T	8009015	C	T	8009015	3	4	44	1	0	0	0	0	1	0	0	0	5032	623	22	3	118	3	EIF3F	11	8009015	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	2199269	8009015	126997501	53	9599											
LDHA	3939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	18428729	18428729	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attttgggacagaatggaatCtcagaccttgtgaaggtgac	12	6	1	4			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:18428729C>G	ENST00000422447.3	+	8	1173	c.900C>G	c.(898-900)atC>atG	p.I300M	LDHA_ENST00000430553.2_Missense_Mutation_p.I242M|LDHA_ENST00000542179.1_Missense_Mutation_p.I300M|LDHA_ENST00000379412.5_Missense_Mutation_p.I300M|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000540430.1_Missense_Mutation_p.I329M	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	300					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						AGAATGGAATCTCAGACCTTG	0.403																																					p.I329M		.											.	LDHA-650	0			c.C987G						.						65	62	63					11																	18428729		2199	4291	6490	SO:0001583	missense	3939	exon8			TGGAATCTCAGAC	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.900C>G	11.37:g.18428729C>G	ENSP00000395337:p.Ile300Met	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	159	10	NM_001165414	1	0	580	606	25	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325308	0.60743	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.88	3.94	0.45596	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.074092	0.56097	D	0.000025	T	0.78904	0.4357	M	0.93678	3.445	0.40871	D	0.983914	P;D;P;B	0.54772	0.648;0.968;0.871;0.076	P;P;P;P	0.59643	0.743;0.861;0.648;0.749	T	0.82657	-0.0349	10	0.87932	D	0	-2.3281	7.5432	0.27751	0.0:0.7087:0.147:0.1443	.	329;242;273;300	B7Z5E3;B4DKQ2;B4DJI1;P00338	.;.;.;LDHA_HUMAN	M	300;242;272;273;329;300;300	ENSP00000395337:I300M;ENSP00000406172:I242M;ENSP00000445175:I329M;ENSP00000368722:I300M;ENSP00000445331:I300M	ENSP00000368722:I300M	I	+	3	3	LDHA	18385305	0.931000	0.31567	1.000000	0.80357	0.992000	0.81027	0.041000	0.13927	2.431000	0.82371	0.456000	0.33151	ATC	.		0.403	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		G	18428729	C	G	18428729	3	3	44	1	0	0	0	0	1	0	0	0	8726	903	32	3	1017	3	LDHA	11	18428729	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	10419714	18428729	116577787	54	9600											
FNBP4	23360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	47772525	47772525	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttactactggaaacagaaatCgttttctccttagaatatat	5	7	1	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:47772525C>A	ENST00000263773.5	-	6	861	c.849G>T	c.(847-849)acG>acT	p.T283T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	283						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						AAACAGAAATCGTTTTCTCCT	0.338																																					p.T283T		.											.	FNBP4-91	0			c.G849T						.						136	120	125					11																	47772525		1842	4092	5934	SO:0001819	synonymous_variant	23360	exon6			AGAAATCGTTTTC	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.849G>T	11.37:g.47772525C>A		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	43	30	NM_015308	0	0	1	4	3	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																			.		0.338	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			A	47772525	C	A	47772525	2	1	44	1	0	0	0	0	0	0	0	1	5989	871	31	2		2	FNBP4	11	47772525	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	29343796	47772525	87233991	55	9601											
CCDC88B	283234	hgsc.bcm.edu	37	chr11	64112617	64112617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggagcgccgggagaaggaGgccctccaggcggtaggtca	19	10	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:64112617G>T	ENST00000356786.5	+	14	2648	c.2604G>T	c.(2602-2604)gaG>gaT	p.E868D	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	868						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGAAGGAGGCCCTCCAGG	0.657																																					p.E868D		.											.	CCDC88B-94	0			c.G2604T						.						4	5	5					11																	64112617		1946	3931	5877	SO:0001583	missense	283234	exon14			GAAGGAGGCCCTC	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2604G>T	11.37:g.64112617G>T	ENSP00000349238:p.Glu868Asp	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	33	4	NM_032251	0	0	0	0	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	2.893	-0.229293	0.06022	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.74	-0.47	0.12131	.	.	.	.	.	T	0.12475	0.0303	N	0.14661	0.345	0.80722	D	1	B;B;B	0.27732	0.083;0.187;0.083	B;B;B	0.30495	0.027;0.116;0.027	T	0.18116	-1.0347	9	0.18276	T	0.48	.	7.3235	0.26542	0.4543:0.0:0.5457:0.0	.	868;517;868	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	868	ENSP00000349238:E868D	ENSP00000349238:E868D	E	+	3	2	CCDC88B	63869193	0.064000	0.20934	0.959000	0.39883	0.032000	0.12392	0.513000	0.22770	0.023000	0.15187	-0.494000	0.04653	GAG	.		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64112617	G	T	64112617	3	4	44	1	0	0	0	0	1	0	0	0	2871	991	35	3	2658	3	CCDC88B	11	64112617	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	16340092	64112617	70893899	56	9602											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	44	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	1666973	65779590	69226926	57	9603											
GAL3ST3	89792	hgsc.bcm.edu	37	chr11	65810209	65810209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcggctgggctgccaCggctgcagctgcttggtgcg	16	13	0	0	rs61895584	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3	2	2		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810209	C	T	65810209	2	4	44	1	0	0	0	0	0	0	0	1	6224	523	19	1		1	GAL3ST3	11	65810209	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	30619	65810209	69196307	58	9604											
TPCN2	219931	bcgsc.ca	37	chr11	68840160	68840160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggacagctcccacaAacaggccatgatggaggtac	11	13	0	1	rs3750965	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr11:68840160A>G	ENST00000294309.3	+	12	1228	c.1127A>G	c.(1126-1128)aAa>aGa	p.K376R	TPCN2_ENST00000542467.1_Missense_Mutation_p.K376R|TPCN2_ENST00000442692.2_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	376			K -> R (in dbSNP:rs3750965).		calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|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)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCTCCCACAAACAGGCCATG	0.632													A|||	1456	0.290735	0.2322	0.1945	5008	,	,		15326	0.2063		0.3032	False		,,,				2504	0.5123				p.K376R		.											.	TPCN2-90	0			c.A1127G						.	A	ARG/LYS	1078,3322	387.7+/-326.6	133,812,1255	51	49	50	http://www.ncbi.nlm.nih.gov/pubmed?term	1127	2.6	0	11	dbSNP_107	50	2710,5878	429.7+/-356.3	408,1894,1992	yes	missense	TPCN2	NM_139075.3	26	541,2706,3247	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	31.5557,24.5,29.1654	benign	376/753	68840160	3788,9200	2200	4294	6494	SO:0001583	missense	219931	exon12			CCCACAAACAGGC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1127A>G	11.37:g.68840160A>G	ENSP00000294309:p.Lys376Arg	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	108	6	NM_139075	0	0	0	0	0	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	558	0.2554945054945055	104	0.21138211382113822	83	0.2292817679558011	135	0.23601398601398602	236	0.3113456464379947	A	0.628	-0.818239	0.02776	0.245	0.315557	ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.96913	-4.16;-4.17	4.94	2.61	0.31194	.	0.188884	0.44688	N	0.000427	T	0.00039	0.0001	M	0.64997	1.995	0.33812	P	0.37205200000000005	B;B;B	0.33379	0.287;0.287;0.41	B;B;B	0.29524	0.048;0.048;0.103	T	0.00862	-1.1536	9	0.25106	T	0.35	-5.9663	6.5291	0.22316	0.8026:0.0:0.1974:0.0	rs3750965;rs57180849;rs3750965	376;376;291	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	R	376;291;376	ENSP00000294309:K376R;ENSP00000445551:K376R	ENSP00000294309:K376R	K	+	2	0	TPCN2	68596736	0.057000	0.20700	0.030000	0.17652	0.117000	0.20001	0.272000	0.18644	0.327000	0.23409	0.459000	0.35465	AAA	A|0.718;G|0.282		0.632	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		G	68840160	A	G	68840160	3	3	44	1	0	0	0	0	1	0	0	0	16444	14	1	4	1173	4	TPCN2	11	68840160	Missense_Mutation	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	3029951	68840160	66166356	59	9605											
TAS2R50	259296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	11138943	11138943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagtcaaatatgaaagatGtactgtattcctcaatttca	5	7	3	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:11138943G>T	ENST00000506868.1	-	1	568	c.517C>A	c.(517-519)Cat>Aat	p.H173N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	173					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATGAAAGATGTACTGTATTC	0.383																																					p.H173N		.											.	TAS2R50-92	0			c.C517A						.						155	135	142					12																	11138943		2203	4300	6503	SO:0001583	missense	259296	exon1			AAAGATGTACTGT	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.517C>A	12.37:g.11138943G>T	ENSP00000424040:p.His173Asn	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	135	15	NM_176890	0	0	0	0	0	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	2.701	-0.270930	0.05716	.	.	ENSG00000212126	ENST00000506868	T	0.34472	1.36	2.19	-4.39	0.03611	.	1.797790	0.04166	N	0.323915	T	0.31071	0.0785	L	0.54908	1.71	0.09310	N	1	B	0.19583	0.037	B	0.24701	0.055	T	0.27502	-1.0072	10	0.42905	T	0.14	.	4.4187	0.11470	0.4517:0.0:0.3933:0.155	.	173	P59544	T2R50_HUMAN	N	173	ENSP00000424040:H173N	ENSP00000424040:H173N	H	-	1	0	TAS2R50	11030210	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.281000	0.02802	-1.203000	0.02652	0.313000	0.20887	CAT	.		0.383	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		T	11138943	G	T	11138943	3	4	44	1	0	0	0	0	1	0	0	0	15631	1377	48	3	386	3	TAS2R50	12	11138943	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		11138943	122712952	60	9606											
TAS2R31	259290	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	11183657	11183657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagccagttgctgaaaTggccggttactgcccagaca	11	11	0	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:11183657T>C	ENST00000390675.2	-	1	349	c.278A>G	c.(277-279)cAt>cGt	p.H93R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	93					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						GTTGCTGAAATGGCCGGTTAC	0.358																																					p.H93R		.											.	.	0			c.A278G						.						99	124	116					12																	11183657		2106	4280	6386	SO:0001583	missense	259290	exon1			CTGAAATGGCCGG	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.278A>G	12.37:g.11183657T>C	ENSP00000375093:p.His93Arg	Somatic	225	1		WXS	Illumina GAIIx	Phase_I	315	86	NM_176885	0	0	0	0	0	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693640	0.30052	.	.	ENSG00000256436	ENST00000390675	T	0.36520	1.25	2.45	1.16	0.20824	.	.	.	.	.	T	0.63965	0.2556	H	0.96301	3.8	0.09310	N	1	D	0.56287	0.975	P	0.61940	0.896	T	0.53620	-0.8413	9	0.87932	D	0	.	5.3278	0.15917	0.0:0.0:0.2973:0.7027	.	93	P59538	T2R31_HUMAN	R	93	ENSP00000375093:H93R	ENSP00000375093:H93R	H	-	2	0	TAS2R31	11074924	0.003000	0.15002	0.001000	0.08648	0.096000	0.18686	1.218000	0.32467	0.155000	0.19261	0.163000	0.16589	CAT	.		0.358	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183657	T	C	11183657	3	2	44	1	0	0	0	0	1	0	0	0	15621	1464	51	4	655	4	TAS2R31	12	11183657	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	44714	11183657	122668238	61	9607											
EEA1	8411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	93251238	93251238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaggtcttggacctctTgtctgagcagtgttacatca	10	10	4	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:93251238T>C	ENST00000322349.8	-	4	533	c.269A>G	c.(268-270)cAa>cGa	p.Q90R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	90					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						TTGGACCTCTTGTCTGAGCAG	0.313																																					p.Q90R		.											.	EEA1-229	0			c.A269G						.						103	113	110					12																	93251238		2203	4289	6492	SO:0001583	missense	8411	exon4			ACCTCTTGTCTGA	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.269A>G	12.37:g.93251238T>C	ENSP00000317955:p.Gln90Arg	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	202	62	NM_003566	0	0	0	0	0	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668251	0.88348	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.66638	-0.22	5.22	5.22	0.72569	.	0.000000	0.49916	D	0.000138	T	0.79269	0.4417	M	0.72894	2.215	0.58432	D	0.999999	D	0.60160	0.987	D	0.67725	0.953	T	0.78653	-0.2120	10	0.35671	T	0.21	.	15.0831	0.72130	0.0:0.0:0.0:1.0	.	90	Q15075	EEA1_HUMAN	R	90;89	ENSP00000317955:Q90R	ENSP00000317955:Q90R	Q	-	2	0	EEA1	91775369	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.644000	0.67902	1.953000	0.56701	0.533000	0.62120	CAA	.		0.313	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93251238	T	C	93251238	3	2	44	1	0	0	0	0	1	0	0	0	4935	1812	63	4	4070	4	EEA1	12	93251238	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10	82067581	93251238	40600657	62	9608											
TMEM119	338773	hgsc.bcm.edu	37	chr12	108986112	108986112	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtagcaggcacagaccccagGagcagcaacagaaggatgag	14	10	0	3	rs10861953	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr12:108986112G>C	ENST00000392806.3	-	2	216	c.48C>G	c.(46-48)ctC>ctG	p.L16L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	16					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAGACCCCAGGAGCAGCAACA	0.662													G|||	986	0.196885	0.1384	0.1297	5008	,	,		16113	0.256		0.1759	False		,,,				2504	0.2843				p.L16L		.											.	TMEM119-69	0			c.C48G						.	G		571,3727		46,479,1624	10	11	11		48	0.4	0.1	12	dbSNP_120	11	1365,6937		115,1135,2901	no	coding-synonymous	TMEM119	NM_181724.2		161,1614,4525	CC,CG,GG		16.4418,13.2852,15.3651		16/284	108986112	1936,10664	2149	4151	6300	SO:0001819	synonymous_variant	338773	exon2			CCCCAGGAGCAGC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.48C>G	12.37:g.108986112G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_181724	0	0	0	1	1	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																			G|0.822;C|0.178		0.662	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		C	108986112	G	C	108986112	2	2	44	1	0	0	0	0	0	0	0	1	16079	1161	41	3		3	TMEM119	12	108986112	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	15734874	108986112	24865783	63	9609											
SPERT	220082	hgsc.bcm.edu	37	chr13	46288017	46288017	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaaagcaagcccgccccctCaccccacgaggagccctgca	10	19	1	0	rs79707842	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr13:46288017C>A	ENST00000310521.1	+	3	937	c.857C>A	c.(856-858)tCa>tAa	p.S286*	SPERT_ENST00000378966.3_Nonsense_Mutation_p.S250*	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	286						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCGCCCCCTCACCCCACGAG	0.721													c|||	310	0.061901	0.0068	0.0865	5008	,	,		14469	0.0982		0.0875	False		,,,				2504	0.0552				p.S286X		.											.	SPERT-91	0			c.C857A						.		stop/SER	36,3866		0,36,1915	5	8	7		857	3.2	0	13	dbSNP_131	7	419,7219		3,413,3403	no	stop-gained	SPERT	NM_152719.1		3,449,5318	AA,AC,CC		5.4857,0.9226,3.9428		286/449	46288017	455,11085	1951	3819	5770	SO:0001587	stop_gained	220082	exon3			CCCCCTCACCCCA	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.857C>A	13.37:g.46288017C>A	ENSP00000309189:p.Ser286*	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_152719	0	0	0	0	0	A8K8I5|Q8NHV2	Nonsense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	161	0.07371794871794872	6	0.012195121951219513	23	0.06353591160220995	68	0.11888111888111888	64	0.08443271767810026	C	21.5	4.165935	0.78339	0.009226	0.054857	ENSG00000174015	ENST00000310521;ENST00000378966	.	.	.	5.05	3.24	0.37175	.	0.731762	0.12237	N	0.486921	.	.	.	.	.	.	0.09310	P	0.9999999999958166	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5116	0.27577	0.1627:0.751:0.0:0.0863	.	.	.	.	X	286;250	.	ENSP00000309189:S286X	S	+	2	0	SPERT	45186018	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.355000	0.20163	1.350000	0.45770	0.655000	0.94253	TCA	C|0.925;A|0.075		0.721	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		A	46288017	C	A	46288017	4	1	44	1	0	0	0	0	0	1	0	0	15086	838	29	3	867	3	SPERT	13	46288017	Nonsense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10		46288017	68881861	64	9610											
DAAM1	23002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	59835519	59835519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacggaatcgcaaacgtaTtaccaaccagatgactgaca	8	10	0	3			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr14:59835519T>C	ENST00000395125.1	+	25	3202	c.3179T>C	c.(3178-3180)aTt>aCt	p.I1060T	DAAM1_ENST00000351081.1_Missense_Mutation_p.I1060T|DAAM1_ENST00000360909.3_Missense_Mutation_p.I1050T|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1060					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGCAAACGTATTACCAACCAG	0.388																																					p.I1060T		.											.	DAAM1-227	0			c.T3179C						.						109	103	105					14																	59835519		2203	4300	6503	SO:0001583	missense	23002	exon25			AACGTATTACCAA	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3179T>C	14.37:g.59835519T>C	ENSP00000378557:p.Ile1060Thr	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	147	60	NM_014992	0	0	22	35	13	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.391451	0.25118	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.79033	-1.22;-1.23;-1.23	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);	0.099026	0.64402	D	0.000002	T	0.75664	0.3880	L	0.54323	1.7	0.58432	D	0.999992	B;B	0.33044	0.395;0.274	B;B	0.39185	0.293;0.153	T	0.71293	-0.4636	10	0.14252	T	0.57	.	15.8697	0.79101	0.0:0.0:0.0:1.0	.	1050;1060	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	T	1050;1060;1060	ENSP00000354162:I1050T;ENSP00000247170:I1060T;ENSP00000378557:I1060T	ENSP00000247170:I1060T	I	+	2	0	DAAM1	58905272	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	4.098000	0.57748	2.152000	0.67230	0.533000	0.62120	ATT	.		0.388	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		C	59835519	T	C	59835519	3	2	44	1	0	0	0	0	1	0	0	0	4224	1493	52	4	3277	4	DAAM1	14	59835519	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10		59835519	47514021	65	9611											
CLPX	10845	bcgsc.ca	37	chr15	65449228	65449228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtaattgatgaatgcctGgcacactgccaatcttatct	7	12	2	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr15:65449228G>T	ENST00000300107.3	-	9	1288	c.1100C>A	c.(1099-1101)cCa>cAa	p.P367Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	367					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						ATGAATGCCTGGCACACTGCC	0.383																																					p.P367Q		.											.	CLPX-90	0			c.C1100A						.						158	135	143					15																	65449228		2202	4299	6501	SO:0001583	missense	10845	exon9			ATGCCTGGCACAC	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.1100C>A	15.37:g.65449228G>T	ENSP00000300107:p.Pro367Gln	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	66	4	NM_006660	0	0	23	23	0	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165497	0.94768	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.41065	1.01	5.75	5.75	0.90469	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.969	T	0.61695	-0.7010	10	0.87932	D	0	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	367;367	Q9H072;O76031	.;CLPX_HUMAN	Q	367	ENSP00000300107:P367Q	ENSP00000300107:P367Q	P	-	2	0	CLPX	63236281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.710000	0.92621	0.557000	0.71058	CCA	.		0.383	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		T	65449228	G	T	65449228	3	4	44	1	0	0	0	0	1	0	0	0	3563	1348	47	3	825	3	CLPX	15	65449228	Missense_Mutation	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		65449228	37082164	66	9612											
TMEM8A	58986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	426160	426160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggcccgcagggagatggtGagggaacccccgctgtccat	15	12	0	2			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:426160G>A	ENST00000431232.2	-	6	1360	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	TMEM8A_ENST00000250930.3_Silent_p.L207L|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	400					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGAGATGGTGAGGGAACCCC	0.682																																					p.L400L		.											.	TMEM8A-92	0			c.C1200T						.						52	46	48					16																	426160		2201	4299	6500	SO:0001819	synonymous_variant	58986	exon6			GATGGTGAGGGAA	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1200C>T	16.37:g.426160G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	236	65	NM_021259	0	0	24	33	9	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	CCDS10407.1																																																																																			.		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		A	426160	G	A	426160	2	1	44	1	0	0	0	0	0	0	0	1	16261	1277	45	3		3	TMEM8A	16	426160	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10		426160	89928593	67	9613											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	44	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	1397284	1823444	88531309	68	9614											
IGSF6	10261	hgsc.bcm.edu;bcgsc.ca	37	chr16	21652899	21652901	+	In_Frame_Del	DEL	TGT	TGT	-													tactcttctgttttcataagTgttgttatctttctcctgca					rs562061536		TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	TGT	TGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr16:21652899_21652901delTGT	ENST00000268389.4	-	6	741_743	c.680_682delACA	c.(679-684)aacact>act	p.N227del	RNU6-196P_ENST00000384315.1_RNA|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	227					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTCATAAGTGTTGTTATCTTT	0.374																																					p.227_228del		.											.	IGSF6-68	0			c.680_682del						.																																			SO:0001651	inframe_deletion	10261	exon6			CATAAGTGTTGTT	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.680_682delACA	16.37:g.21652902_21652904delTGT	ENSP00000268389:p.Asn227del	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	60	19	NM_005849	0	0	0	0	0	Q8WWD8	In_Frame_Del	DEL	ENST00000268389.4	37	CCDS10599.1																																																																																			.		0.374	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			-	21652901	TGT	-	21652899	7	5	44	1	0	1	0	1	0	0	0	0	7630	1696	59	0	47	0	IGSF6	16	21652899	In_Frame_Del	DEL	TGT	TCGA-OR-A5L4-01A-11D-A29I-10	19829455	21652899	68701854	69	9615											
DLGAP1	9229	broad.mit.edu	37	chr18	3879165	3879165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgactcggacttcaccatggCctggtccatgttcaccgagg	11	14	2	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr18:3879165C>A	ENST00000315677.3	-	4	1499	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S	DLGAP1_ENST00000515196.2_Missense_Mutation_p.A302S|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A302S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A302S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	302					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTCACCATGGCCTGGTCCATG	0.592																																					p.A302S		.											.	DLGAP1-229	0			c.G904T						.						68	62	64					18																	3879165		2203	4300	6503	SO:0001583	missense	9229	exon4			CCATGGCCTGGTC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.904G>T	18.37:g.3879165C>A	ENSP00000316377:p.Ala302Ser	Somatic	58	2		WXS	Illumina GAIIx	Phase_I	51	7	NM_001242761	0	0	0	0	0	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508859	0.27036	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.33438	1.41;1.41	5.51	5.51	0.81932	.	0.051420	0.85682	D	0.000000	T	0.27349	0.0671	L	0.41492	1.28	0.53688	D	0.999976	P;P;B	0.44521	0.539;0.837;0.05	B;P;B	0.45276	0.193;0.475;0.038	T	0.01889	-1.1253	10	0.15952	T	0.53	-21.8331	10.5308	0.44975	0.0:0.8821:0.0:0.1179	.	302;302;302	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	S	302	ENSP00000316377:A302S;ENSP00000445973:A302S	ENSP00000316377:A302S	A	-	1	0	DLGAP1	3869165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.674000	0.54598	2.605000	0.88082	0.655000	0.94253	GCC	.		0.592	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			A	3879165	C	A	3879165	3	1	44	1	0	0	0	0	1	0	0	0	4573	739	26	3	2124	3	DLGAP1	18	3879165	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10		3879165	74198083	70	9616											
LAMA1	284217	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	7007263	7007263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttccctctgtggtaccCaggggcgcagtcctgagggg	16	12	1	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr18:7007263C>T	ENST00000389658.3	-	29	4228	c.4135G>A	c.(4135-4137)Ggg>Agg	p.G1379R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1379	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTGGTACCCAGGGGCGCAG	0.537																																					p.G1379R		.											.	LAMA1-149	0			c.G4135A						.						47	41	43					18																	7007263		2203	4300	6503	SO:0001583	missense	284217	exon29			GGTACCCAGGGGC	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.4135G>A	18.37:g.7007263C>T	ENSP00000374309:p.Gly1379Arg	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	58	25	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539365	0.85917	.	.	ENSG00000101680	ENST00000389658	T	0.66638	-0.22	5.83	5.83	0.93111	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86794	0.1987	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1379	P25391	LAMA1_HUMAN	R	1379	ENSP00000374309:G1379R	ENSP00000374309:G1379R	G	-	1	0	LAMA1	6997263	1.000000	0.71417	0.760000	0.31359	0.883000	0.51084	6.507000	0.73717	2.770000	0.95276	0.655000	0.94253	GGG	.		0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7007263	C	T	7007263	3	4	44	1	0	0	0	0	1	0	0	0	8633	594	21	3	5232	3	LAMA1	18	7007263	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	3128098	7007263	71069985	71	9617											
CD320	51293	hgsc.bcm.edu	37	chr19	8373152	8373152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgccacgctccaaccTgcgccatccaaccgccgctc	7	21	0	0	rs2232775	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:8373152T>C	ENST00000301458.5	-	1	87	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	CD320_ENST00000537716.2_Missense_Mutation_p.Q8R|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	8			Q -> R (in dbSNP:rs2232775). {ECO:0000269|Ref.6}.		cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CGCTCCAACCTGCGCCATCCA	0.731													C|||	1026	0.204872	0.472	0.0591	5008	,	,		12375	0.0813		0.0437	False		,,,				2504	0.2403				p.Q8R		.											.	CD320-90	0			c.A23G						.	C	ARG/GLN,ARG/GLN	1254,2810		181,892,959	6	7	7		23,23	1.9	0	19	dbSNP_98	7	261,8013		4,253,3880	no	missense,missense	CD320	NM_001165895.1,NM_016579.3	43,43	185,1145,4839	CC,CT,TT		3.1545,30.8563,12.2791	benign,benign	8/241,8/283	8373152	1515,10823	2032	4137	6169	SO:0001583	missense	51293	exon1			CCAACCTGCGCCA	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.23A>G	19.37:g.8373152T>C	ENSP00000301458:p.Gln8Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	21	NM_001165895	0	0	32	47	15	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	321	0.14697802197802198	223	0.4532520325203252	18	0.049723756906077346	51	0.08916083916083917	29	0.03825857519788918	C	1.030	-0.682008	0.03353	0.308563	0.031545	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.95918	-2.91;-3.85	4.09	1.88	0.25563	.	0.730560	0.11271	N	0.581501	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	9	0.02654	T	1	-1.2784	3.6347	0.08145	0.2174:0.5698:0.0:0.2129	rs2232775;rs3180350	8;8	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	8	ENSP00000301458:Q8R;ENSP00000437697:Q8R	ENSP00000301458:Q8R	Q	-	2	0	CD320	8279152	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.149000	0.10204	0.110000	0.17919	-1.212000	0.01626	CAG	T|0.852;C|0.148		0.731	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		C	8373152	T	C	8373152	3	2	44	1	0	0	0	0	1	0	0	0	3011	1580	55	4	845	4	CD320	19	8373152	Missense_Mutation	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10		8373152	50755831	72	9618											
OR7G3	390883	bcgsc.ca	37	chr19	9236886	9236886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccataaaacaaggaaacAacgattaaatgtgacccgca	7	9	0	1	rs10424352|rs386806662	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:9236886A>G	ENST00000305444.2	-	1	740	c.741T>C	c.(739-741)gtT>gtC	p.V247V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACAAGGAAACAACGATTAAAT	0.443													G|||	2120	0.423323	0.7095	0.245	5008	,	,		20673	0.3651		0.3141	False		,,,				2504	0.3354				p.V247V		.											.	OR7G3-69	0			c.T741C						.	G		2859,1547	486.5+/-360.6	939,981,283	103	101	101		741	-5.8	0	19	dbSNP_119	101	2673,5927	685.0+/-404.0	386,1901,2013	no	coding-synonymous	OR7G3	NM_001001958.1		1325,2882,2296	GG,GA,AA		31.0814,35.1112,42.5342		247/313	9236886	5532,7474	2203	4300	6503	SO:0001819	synonymous_variant	390883	exon1			GGAAACAACGATT		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.741T>C	19.37:g.9236886A>G		Somatic	140	1		WXS	Illumina GAIIx	Phase_I	187	7	NM_001001958	0	0	0	0	0	Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																			A|0.585;G|0.415		0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			G	9236886	A	G	9236886	2	3	44	1	0	0	0	0	0	0	0	1	11263	117	5	4		4	OR7G3	19	9236886	Silent	SNP	A	TCGA-OR-A5L4-01A-11D-A29I-10	863734	9236886	49892097	73	9619											
MRI1	84245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13879744	13879744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggcattcccttctaCgtggctgcccccagctcttc	7	18	2	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:13879744C>T	ENST00000040663.6	+	5	871	c.831C>T	c.(829-831)taC>taT	p.Y277Y	MRI1_ENST00000319545.8_Silent_p.Y230Y	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TTCCCTTCTACGTGGCTGCCC	0.602																																					p.Y277Y		.											.	MRI1-91	0			c.C831T						.						91	67	75					19																	13879744		2203	4300	6503	SO:0001819	synonymous_variant	84245	exon5			CTTCTACGTGGCT		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.831C>T	19.37:g.13879744C>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	176	38	NM_001031727	0	0	6	9	3		Silent	SNP	ENST00000040663.6	37	CCDS32923.1																																																																																			.		0.602	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		T	13879744	C	T	13879744	2	4	44	1	0	0	0	0	0	0	0	1	9808	547	19	1		1	MRI1	19	13879744	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	4642858	13879744	45249239	74	9620											
BRD4	23476	broad.mit.edu	37	chr19	15354176	15354176	+	Frame_Shift_Del	DEL	G	G	-													gggttgggccatggggggctGtgggagcaggggtgtttggg							TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:15354176delG	ENST00000263377.2	-	14	2925	c.2704delC	c.(2704-2706)cagfs	p.Q902fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	902					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATGGGGGGCTGTGGGAGCAGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																p.Q902fs		.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4-767	0			c.2704delC						.			25,4137		2,21,2058	8	10	9			4.3	1	19		9	20,8124		3,14,4055	no	frameshift	BRD4	NM_058243.2		5,35,6113	A1A1,A1R,RR		0.2456,0.6007,0.3657			15354176	45,12261	2160	4252	6412	SO:0001589	frameshift_variant	23476	exon14			GGGGCTGTGGGAG	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2704delC	19.37:g.15354176delG	ENSP00000263377:p.Gln902fs	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	49	9	NM_058243	0	0	0	0	0	O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																			.		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		-	15354176	G	-	15354176	7	5	44	1	0	1	0	1	0	0	0	0	1508	1386	48	0	1412	0	BRD4	19	15354176	Frame_Shift_Del	DEL	G	TCGA-OR-A5L4-01A-11D-A29I-10	1474432	15354176	43774807	75	9621											
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48205288	48205288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcatccgcgagctggcGgccgtggaggacgagctgta	18	11	1	0	rs8100472	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:48205288G>A	ENST00000396720.3	+	15	4493	c.4299G>A	c.(4297-4299)gcG>gcA	p.A1433A	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1433										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)		GCGAGCTGGCGGCCGTGGAGG	0.771													G|||	514	0.102636	0.2519	0.0548	5008	,	,		5835	0.001		0.0577	False		,,,				2504	0.0859				p.A1433A		.											.	GLTSCR1-48	0			c.G4299A						.	G		266,1774		1,264,755	1	2	2		4299	-3.5	1	19	dbSNP_116	2	222,4724		0,222,2251	no	coding-synonymous	GLTSCR1	NM_015711.3		1,486,3006	AA,AG,GG		4.4885,13.0392,6.9854		1433/1561	48205288	488,6498	1020	2473	3493	SO:0001819	synonymous_variant	29998	exon15			GCTGGCGGCCGTG	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.4299G>A	19.37:g.48205288G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_015711	0	0	0	1	1	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			G|0.917;A|0.083		0.771	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48205288	G	A	48205288	2	1	44	1	0	0	0	0	0	0	0	1	6500	1103	39	1		1	GLTSCR1	19	48205288	Silent	SNP	G	TCGA-OR-A5L4-01A-11D-A29I-10	32851112	48205288	10923695	76	9622											
ZNF264	9422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	57723887	57723887	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggacctcattcgccacttCagcatccacactggagagaa	8	13	2	1			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr19:57723887C>T	ENST00000263095.6	+	4	1836	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF264_ENST00000536056.1_Silent_p.F474F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TTCGCCACTTCAGCATCCACA	0.527																																					p.F474F		.											.	ZNF264-92	0			c.C1422T						.						63	64	63					19																	57723887		2203	4300	6503	SO:0001819	synonymous_variant	9422	exon4			CCACTTCAGCATC	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.1422C>T	19.37:g.57723887C>T		Somatic	135	2		WXS	Illumina GAIIx	Phase_I	159	77	NM_003417	0	0	7	7	0	A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																			.		0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			T	57723887	C	T	57723887	2	4	44	1	0	0	0	0	0	0	0	1	17852	825	29	3		3	ZNF264	19	57723887	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	9518599	57723887	1405096	77	9623											
SNTA1	6640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	31996515	31996515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcactcacgatctcgcCttcagcacctccaaaatcca	3	20	4	0			TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:31996515C>T	ENST00000217381.2	-	7	1688	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	473	SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACGATCTCGCCTTCAGCACCT	0.622																																					p.G473S		.											.	SNTA1-91	0			c.G1417A						.						100	98	99					20																	31996515		2203	4300	6503	SO:0001583	missense	6640	exon7			TCTCGCCTTCAGC	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1417G>A	20.37:g.31996515C>T	ENSP00000217381:p.Gly473Ser	Somatic	235	0		WXS	Illumina GAIIx	Phase_I	243	102	NM_003098	0	0	0	0	0	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952340	0.92660	.	.	ENSG00000101400	ENST00000217381	D	0.85258	-1.96	4.7	4.7	0.59300	.	0.137147	0.46442	D	0.000288	D	0.89357	0.6692	M	0.79693	2.465	0.54753	D	0.999989	P;D	0.54397	0.916;0.966	P;P	0.51170	0.569;0.661	D	0.89566	0.3810	10	0.38643	T	0.18	-6.9428	17.2534	0.87048	0.0:1.0:0.0:0.0	.	398;473	B4DX40;Q13424	.;SNTA1_HUMAN	S	473	ENSP00000217381:G473S	ENSP00000217381:G473S	G	-	1	0	SNTA1	31460176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.705000	0.68355	2.156000	0.67533	0.462000	0.41574	GGC	.		0.622	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		T	31996515	C	T	31996515	3	4	44	1	0	0	0	0	1	0	0	0	14916	681	24	3	108	3	SNTA1	20	31996515	Missense_Mutation	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10		31996515	31029005	78	9624											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	44	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5L4-01A-11D-A29I-10	5380624	37377139	25648381	79	9625											
KRTAP10-2	386679	ucsc.edu	37	chr21	45971225	45971225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagggtcaggcagggggcTggggcacagcagctgggggt	21	9	1	0	rs587667536	byFrequency	TCGA-OR-A5L4-01A-11D-A29I-10	TCGA-OR-A5L4-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	594bdeaa-8494-4426-8e7f-4a3227b3ce13	d404f51a-ce1f-420c-b8dd-f19d19ce0e3b	g.chr21:45971225T>C	ENST00000391621.1	-	1	163	c.117A>G	c.(115-117)ccA>ccG	p.P39P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	39	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GGCAGGGGGCTGGGGCACAGC	0.687													t|||	63	0.0125799	0.0408	0.0072	5008	,	,		16669	0.001		0.003	False		,,,				2504	0				p.P39P		.											.	KRTAP10-2-135	0			c.A117G						.						40	47	45					21																	45971225		2203	4298	6501	SO:0001819	synonymous_variant	386679	exon1			GGGGGCTGGGGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.117A>G	21.37:g.45971225T>C		Somatic	18	1		WXS	Illumina GAIIx	Phase_I	68	9	NM_198693	0	0	0	0	0	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																			.		0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			C	45971225	T	C	45971225	2	2	44	1	0	0	0	0	0	0	0	1	8536	1567	55	4		4	KRTAP10-2	21	45971225	Silent	SNP	T	TCGA-OR-A5L4-01A-11D-A29I-10		45971225	2158670	80	9626											
PRAMEF2	65122	bcgsc.ca	37	chr1	12919623	12919624	+	Missense_Mutation	DNP	CC	CC	TG													agatggcctggagcctgggcCctgtcctgcttcccagaggc					rs80027487|rs75838083	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:12919623_12919624CC>TG	ENST00000240189.2	+	3	450_451	c.363_364CC>TG	c.(361-366)gcCCtg>gcTGtg	p.L122V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	122					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGGGCCCTGTCCTGCTT	0.55																																					p.L122V		.											.	PRAMEF2-68	0			c.C364G						.																																			SO:0001583	missense	65122	exon3			TGGGCCCTGTCCT		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	Exception_encountered	1.37:g.12919623_12919624delinsTG	ENSP00000240189:p.Leu122Val	Somatic	279	0		WXS	Illumina GAIIx	Phase_I	289	0	NM_023014	0	0	0	0	0		Missense_Mutation	DNP	ENST00000240189.2	37	CCDS149.1																																																																																			C|0.896;G|0.104		0.55	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		TG	12919624	CC	TG	12919623	3	4	45	1	0	0	0	0	1	0	0	0	12477	610	22	3	369	3	PRAMEF2	1	12919623	Missense_Mutation	DNP	CC	TCGA-OR-A5L5-01A-11D-A29I-10		12919623	236330998	1	9627											
AKR7L	246181	bcgsc.ca	37	chr1	19600376	19600377	+	RNA	DNP	TT	TT	GC													tctgcagtcgctgctgcccaTtcggagccccaggccgccaa					rs565823852|rs539454439	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:19600376_19600377TT>GC	ENST00000429712.1	-	0	311_312				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						CTGCTGCCCATTCGGAGCCCCA	0.673																																					.		.											.	AKR7L-90	0			.						.																																					246181	.			GCCCATTCGGAGC			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	ENST00000429712.1:c.192_193delinsGC	1.37:g.19600376_19600377delinsGC		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	188	0	.	0	0	0	0	0	Q5U614	RNA	DNP	ENST00000429712.1	37																																																																																				.		0.673	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		GC	19600377	TT	GC	19600376	1	3	45	0	1	0	0	0	0	0	0	0	477	1493	52	5		5	AKR7L	1	19600376	RNA	DNP	TT	TCGA-OR-A5L5-01A-11D-A29I-10	6680753	19600376	229650245	2	9628											
KIAA0467	23334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	43891735	43891735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggaggagacacctgcGtccatgagatccctttccat	10	12	1	2	rs531185509		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:43891735G>A	ENST00000562955.1	+	21	2956	c.2956G>A	c.(2956-2958)Gtc>Atc	p.V986I	SZT2_ENST00000372442.1_Missense_Mutation_p.V144I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	986					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGACACCTGCGTCCATGAGAT	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		20151	0		0	False		,,,				2504	0				p.V986I		.											.	SZT2-144	0			c.G2956A						.						134	112	119					1																	43891735		2203	4300	6503	SO:0001583	missense	23334	exon21			ACCTGCGTCCATG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2956G>A	1.37:g.43891735G>A	ENSP00000457168:p.Val986Ile	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	117	50	NM_015284	0	0	0	1	1	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	4.035	0.004099	0.07866	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.68	4.77	0.60923	.	0.201244	0.43416	N	0.000579	T	0.12347	0.0300	N	0.01874	-0.695	0.22610	N	0.998939	B;B	0.18310	0.002;0.027	B;B	0.15052	0.004;0.012	T	0.25433	-1.0132	9	0.02654	T	1	.	10.7835	0.46393	0.1448:0.0:0.8552:0.0	.	986;986	Q5T011-4;Q5T011-5	.;.	I	144	.	ENSP00000361519:V144I	V	+	1	0	SZT2	43664322	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.346000	0.59367	1.417000	0.47077	0.491000	0.48974	GTC	.		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43891735	G	A	43891735	3	1	45	1	0	0	0	0	1	0	0	0	8205	1145	40	1	448	1	KIAA0467	1	43891735	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	24291359	43891735	205358886	3	9629											
KIAA0467	23334	bcgsc.ca	37	chr1	43906896	43906896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccagagtaaaacagaAtgtggggatttgggttcccc	12	10	0	2	rs2027130	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:43906896A>G	ENST00000562955.1	+	52	7185	c.7185A>G	c.(7183-7185)gaA>gaG	p.E2395E	SZT2_ENST00000372442.1_Silent_p.E1553E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2452					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTAAAACAGAATGTGGGGATT	0.547													A|||	983	0.196286	0.0885	0.3847	5008	,	,		19153	0.0823		0.4205	False		,,,				2504	0.0951				p.E2395E		.											.	SZT2-144	0			c.A7185G						.	A		586,3820	254.6+/-260.1	40,506,1657	140	150	147		7185	3.1	1	1	dbSNP_94	147	3555,5045	515.1+/-378.5	756,2043,1501	no	coding-synonymous	SZT2	NM_015284.3		796,2549,3158	GG,GA,AA		41.3372,13.3,31.8392		2395/3376	43906896	4141,8865	2203	4300	6503	SO:0001819	synonymous_variant	23334	exon52			AACAGAATGTGGG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7185A>G	1.37:g.43906896A>G		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	114	6	NM_015284	0	0	0	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																			A|0.698;G|0.302		0.547	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		G	43906896	A	G	43906896	2	3	45	1	0	0	0	0	0	0	0	1	8205	98	4	4		4	KIAA0467	1	43906896	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	15161	43906896	205343725	4	9630											
L1TD1	54596	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	62675591	62675591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactcaagaggaagagttttCcgagctagaggagctggatg	15	6	1	3			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:62675591C>T	ENST00000498273.1	+	4	1440	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	382	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAGAGTTTTCCGAGCTAGAG	0.488																																					p.S382F		.											.	L1TD1-92	0			c.C1145T						.						74	84	80					1																	62675591		2203	4300	6503	SO:0001583	missense	54596	exon5			AGTTTTCCGAGCT	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.1145C>T	1.37:g.62675591C>T	ENSP00000419901:p.Ser382Phe	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	198	15	NM_001164835	0	0	0	0	0	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095032	0.36952	.	.	ENSG00000240563	ENST00000498273	T	0.11495	2.77	3.41	2.49	0.30216	.	.	.	.	.	T	0.15912	0.0383	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.11665	-1.0578	9	0.48119	T	0.1	.	6.6162	0.22778	0.0:0.8666:0.0:0.1334	.	382	Q5T7N2	LITD1_HUMAN	F	382	ENSP00000419901:S382F	ENSP00000419901:S382F	S	+	2	0	L1TD1	62448179	0.003000	0.15002	0.003000	0.11579	0.004000	0.04260	0.235000	0.17948	1.022000	0.39626	0.455000	0.32223	TCC	.		0.488	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		T	62675591	C	T	62675591	3	4	45	1	0	0	0	0	1	0	0	0	8617	855	30	3	1151	3	L1TD1	1	62675591	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	18768695	62675591	186575030	5	9631											
LCE1E	353135	ucsc.edu;bcgsc.ca	37	chr1	152760075	152760075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgcagccagccctcAgggggctccagctgctgtgg	15	14	1	0	rs201660535	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:152760075A>G	ENST00000368770.3	+	2	353	c.300A>G	c.(298-300)tcA>tcG	p.S100S	LCE1E_ENST00000368771.1_Silent_p.S100S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	100	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCCCTCAGGGGGCTCCA	0.642													G|||	1333	0.266174	0.3654	0.2406	5008	,	,		14498	0.3313		0.1064	False		,,,				2504	0.2474				p.S100S		.											.	LCE1E-90	0			c.A300G						.	G		355,3853		89,177,1838	36	52	47		300	-4.6	0.5	1	dbSNP_132	47	177,8331		25,127,4102	no	coding-synonymous	LCE1E	NM_178353.1		114,304,5940	GG,GA,AA		2.0804,8.4363,4.1837		100/119	152760075	532,12184	2104	4254	6358	SO:0001819	synonymous_variant	353135	exon2			GCCCTCAGGGGGC	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.300A>G	1.37:g.152760075A>G		Somatic	87	1		WXS	Illumina GAIIx	Phase_I	102	24	NM_178353	0	0	0	0	0	D3DV30	Silent	SNP	ENST00000368770.3	37	CCDS1024.1																																																																																			A|0.995;G|0.005		0.642	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		G	152760075	A	G	152760075	2	3	45	1	0	0	0	0	0	0	0	1	8691	175	7	4		4	LCE1E	1	152760075	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	90084484	152760075	96490546	6	9632											
FAM189B	10712	hgsc.bcm.edu	37	chr1	155220208	155220208	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgacgagtcggggctcGggtgggcggggctgcggctg	23	9	0	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:155220208G>A	ENST00000361361.2	-	9	1878	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	FAM189B_ENST00000350210.2_Nonsense_Mutation_p.R361*|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_Nonsense_Mutation_p.R439*	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	457						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTCGGGGCTCGGGTGGGCGGG	0.761																																					p.R457X		.											.	FAM189B-154	0			c.C1369T						.						3	4	4					1																	155220208		1639	3234	4873	SO:0001587	stop_gained	10712	exon9			GGGCTCGGGTGGG	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1369C>T	1.37:g.155220208G>A	ENSP00000354958:p.Arg457*	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_006589	0	0	0	0	0	B1AVS5|Q8IXL3|Q9BR66	Nonsense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873215	0.72180	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361	.	.	.	4.25	2.3	0.28687	.	0.321615	0.23084	N	0.052119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2876	0.43577	0.0:0.0:0.4819:0.5181	.	.	.	.	X	361;439;457	.	ENSP00000307128:R361X	R	-	1	2	FAM189B	153486832	0.316000	0.24580	0.037000	0.18230	0.768000	0.43524	0.364000	0.20325	0.508000	0.28173	0.655000	0.94253	CGA	.		0.761	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		A	155220208	G	A	155220208	4	1	45	1	0	0	0	0	0	1	0	0	5536	1124	39	1	653	1	FAM189B	1	155220208	Nonsense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	2460133	155220208	94030413	7	9633											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_001271223	0	0	0	0	0	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	45	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	73284462	228504670	20745951	8	9634											
SIX3	6496	hgsc.bcm.edu	37	chr2	45171842	45171842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgacggagcgcgcAgacaccggcacctccatcct	10	18	0	2	rs338074	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18	19	19		942	1	1	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		G	45171842	A	G	45171842	2	3	45	1	0	0	0	0	0	0	0	1	14393	175	7	4		4	SIX3	2	45171842	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10		45171842	198027531	9	9635											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	45	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	65200350	110372192	132827181	10	9636											
EFHD1	80303	bcgsc.ca	37	chr2	233537125	233537125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccctggagggtgtcaAaggtgccaagaacttctttg	14	8	2	1	rs11550699	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:233537125A>G	ENST00000264059.3	+	3	1034	c.557A>G	c.(556-558)aAa>aGa	p.K186R	EFHD1_ENST00000410095.1_Missense_Mutation_p.K74R|EFHD1_ENST00000409613.1_Missense_Mutation_p.K90R|EFHD1_ENST00000409708.1_Missense_Mutation_p.K74R	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	186			K -> R (in dbSNP:rs11550699). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAGGGTGTCAAAGGTGCCAAG	0.577													A|||	1735	0.346446	0.1483	0.464	5008	,	,		18935	0.4891		0.3469	False		,,,				2504	0.3834				p.K186R		.											.	EFHD1-90	0			c.A557G						.	A	ARG/LYS	810,3596	324.8+/-298.8	83,644,1476	132	129	130		557	-0.4	0.9	2	dbSNP_120	130	3173,5427	482.0+/-370.8	597,1979,1724	yes	missense	EFHD1	NM_025202.3	26	680,2623,3200	GG,GA,AA		36.8953,18.384,30.6243	benign	186/240	233537125	3983,9023	2203	4300	6503	SO:0001583	missense	80303	exon3			GTGTCAAAGGTGC		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.557A>G	2.37:g.233537125A>G	ENSP00000264059:p.Lys186Arg	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	255	7	NM_025202	0	0	1	1	0	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	CCDS2497.1	754	0.34523809523809523	73	0.1483739837398374	152	0.4198895027624309	272	0.4755244755244755	257	0.3390501319261214	A	9.677	1.148271	0.21288	0.18384	0.368953	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000427698;ENST00000410095	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.96	-0.41	0.12374	.	0.207888	0.48767	N	0.000164	T	0.00012	0.0000	L	0.53780	1.695	0.32928	P	0.48319999999999996	B;B	0.17268	0.002;0.021	B;B	0.15484	0.001;0.013	T	0.44513	-0.9323	9	0.30854	T	0.27	-1.3083	4.7049	0.12844	0.5494:0.1545:0.2961:0.0	rs11550699;rs17844998;rs17857759;rs52815265;rs59739742;rs11550699	90;186	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	R	90;186;89;74;74;74	ENSP00000386556:K90R;ENSP00000264059:K186R;ENSP00000386243:K74R;ENSP00000401073:K74R;ENSP00000386685:K74R	ENSP00000264059:K186R	K	+	2	0	EFHD1	233245369	0.388000	0.25197	0.930000	0.37139	0.370000	0.29829	0.160000	0.16462	-0.331000	0.08501	-0.379000	0.06801	AAA	A|0.685;G|0.315		0.577	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		G	233537125	A	G	233537125	3	3	45	1	0	0	0	0	1	0	0	0	4962	14	1	4	567	4	EFHD1	2	233537125	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	123164933	233537125	9662248	11	9637											
C2orf54	79919	bcgsc.ca	37	chr2	241828012	241828012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtacacggcgccctgcagTtctgcccagtcctcgggcgc	13	17	1	0	rs6708304	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr2:241828012T>C	ENST00000388934.4	-	4	1106	c.948A>G	c.(946-948)gaA>gaG	p.E316E	C2orf54_ENST00000402775.2_Silent_p.E148E|C2orf54_ENST00000307486.8_Silent_p.E167E	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	316										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGCCCTGCAGTTCTGCCCAGT	0.697													C|||	2843	0.567692	0.8192	0.366	5008	,	,		9793	0.5278		0.5219	False		,,,				2504	0.4591				p.E316E		.											.	C2orf54-90	0			c.A948G						.	C	,	3233,979		1276,681,149	10	14	13		948,444	1.1	0.9	2	dbSNP_116	13	4211,4237		1104,2003,1117	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	2380,2684,1266	CC,CT,TT		49.8461,23.2431,41.2006	,	316/448,148/280	241828012	7444,5216	2106	4224	6330	SO:0001819	synonymous_variant	79919	exon4			CTGCAGTTCTGCC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.948A>G	2.37:g.241828012T>C		Somatic	9	0		WXS	Illumina GAIIx	Phase_I	119	99	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																			T|0.464;C|0.536		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		C	241828012	T	C	241828012	2	2	45	1	0	0	0	0	0	0	0	1	2182	1722	60	4		4	C2orf54	2	241828012	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	8290887	241828012	1371361	12	9638											
TTLL3	26140	bcgsc.ca	37	chr3	9870857	9870857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccaggacaccgtgcaGtgtcggaaggccagctttga	12	13	0	1	rs2290303	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:9870857G>A	ENST00000547186.1	+	10	1548	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	TTLL3_ENST00000466245.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q505Q|TTLL3_ENST00000427853.3_Silent_p.Q232Q|TTLL3_ENST00000383827.1_Silent_p.Q232Q|TTLL3_ENST00000430793.1_Silent_p.Q232Q|TTLL3_ENST00000397241.1_Silent_p.Q232Q|TTLL3_ENST00000455274.1_Silent_p.Q232Q|TTLL3_ENST00000426895.4_Silent_p.Q587Q	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	444	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACACCGTGCAGTGTCGGAAGG	0.592													G|||	1367	0.272963	0.1286	0.3112	5008	,	,		22011	0.1577		0.5746	False		,,,				2504	0.2495				p.Q587Q		.											.	TTLL3-585	0			c.G1761A						.	G	,	794,3612	319.6+/-296.2	81,632,1490	118	89	99		1761,1515	0.7	0.6	3	dbSNP_100	99	4342,4258	579.8+/-391.0	1109,2124,1067	no	coding-synonymous,coding-synonymous	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	,	1190,2756,2557	AA,AG,GG		49.5116,18.0209,39.4895	,	587/916,505/626	9870857	5136,7870	2203	4300	6503	SO:0001819	synonymous_variant	26140	exon10			CGTGCAGTGTCGG		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1332G>A	3.37:g.9870857G>A		Somatic	248	3		WXS	Illumina GAIIx	Phase_I	286	8	NM_001025930	0	0	15	15	0	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37		722	0.3305860805860806	67	0.13617886178861788	126	0.34806629834254144	89	0.1555944055944056	440	0.5804749340369393	G	7.645	0.681788	0.14907	0.180209	0.504884	ENSG00000214021	ENST00000310252	.	.	.	4.93	0.73	0.18271	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27062	P	0.9635391	.	.	.	.	.	.	T	0.47071	-0.9145	3	.	.	.	.	5.6426	0.17572	0.2252:0.0:0.5736:0.2012	rs2290303;rs17319071	.	.	.	M	400	.	.	V	+	1	0	TTLL3	9845857	0.050000	0.20438	0.650000	0.29550	0.977000	0.68977	0.301000	0.19174	0.489000	0.27749	0.563000	0.77884	GTG	G|0.623;A|0.377		0.592	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		A	9870857	G	A	9870857	2	1	45	1	0	0	0	0	0	0	0	1	16777	1020	36	3		3	TTLL3	3	9870857	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10		9870857	188151573	13	9639											
NR2C2	7182	bcgsc.ca	37	chr3	15046088	15046088	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgcctctggcccaTtgagtgttttcacatctttg	8	12	3	2	rs77813966	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:15046088T>C	ENST00000425241.1	+	2	434				NR2C2_ENST00000406272.2_Intron|NR2C2_ENST00000393102.3_Intron|NR2C2_ENST00000323373.6_Silent_p.L33L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2						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						ctctggcccattgagtgtttt	0.353													T|||	90	0.0179712	8e-04	0.0259	5008	,	,		16983	0		0.0437	False		,,,				2504	0.0276				p.L33L		.											.	NR2C2-226	0			c.T97C						.	T		32,4374	36.0+/-67.5	1,30,2172	60	60	60		97	-2.2	0	3	dbSNP_132	60	383,8217	123.4+/-182.3	13,357,3930	no	coding-synonymous	NR2C2	NM_003298.3		14,387,6102	CC,CT,TT		4.4535,0.7263,3.1908		33/616	15046088	415,12591	2203	4300	6503	SO:0001627	intron_variant	7182	exon3			GGCCCATTGAGTG	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.72+595T>C	3.37:g.15046088T>C		Somatic	237	1		WXS	Illumina GAIIx	Phase_I	189	7	NM_003298	0	0	0	0	0	A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37																																																																																				T|0.968;C|0.032		0.353	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		C	15046088	T	C	15046088	1	2	45	0	1	0	0	0	0	0	0	0	10662	1490	52	4		4	NR2C2	3	15046088	Intron	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	5175231	15046088	182976342	14	9640											
PRSS42	339906	hgsc.bcm.edu	37	chr3	46875395	46875395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtcacctggaaaggacGtaaacagattgagtgggggg	17	5	1	3	rs557356194		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:46875395G>T	ENST00000429665.1	-	1	190	c.191C>A	c.(190-192)aCg>aAg	p.T64K	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	64					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						TGGAAAGGACGTAAACAGATT	0.711																																					p.T64K		.											.	PRSS42-91	0			c.C191A						.						6	10	9					3																	46875395		1811	3981	5792	SO:0001583	missense	339906	exon1			AAGGACGTAAACA		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.191C>A	3.37:g.46875395G>T	ENSP00000401701:p.Thr64Lys	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_182702	0	0	0	0	0		Missense_Mutation	SNP	ENST00000429665.1	37	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269749	0.23221	.	.	ENSG00000178055	ENST00000429665	D	0.88046	-2.33	2.87	-0.218	0.13142	.	2.132630	0.02567	N	0.097410	T	0.74397	0.3711	N	0.19112	0.55	0.09310	N	1	B	0.28082	0.2	B	0.22386	0.039	T	0.61598	-0.7030	10	0.10111	T	0.7	.	4.4856	0.11788	0.0:0.2427:0.4504:0.3069	.	64	Q7Z5A4	PRS42_HUMAN	K	64	ENSP00000401701:T64K	ENSP00000401701:T64K	T	-	2	0	PRSS42	46850399	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.624000	0.02038	-0.079000	0.12707	0.407000	0.27541	ACG	.		0.711	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		T	46875395	G	T	46875395	3	4	45	1	0	0	0	0	1	0	0	0	12670	1145	40	2	709	2	PRSS42	3	46875395	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	31829307	46875395	151147035	15	9641											
IQCF1	132141	bcgsc.ca	37	chr3	51930850	51930850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgggaggtcatacttTttctgatttctcattggcat	10	6	3	1	rs57859638	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:51930850T>C	ENST00000310914.5	-	3	231	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	57										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTCATACTTTTTCTGATTTC	0.488													T|||	494	0.0986422	0.0772	0.1441	5008	,	,		15992	0.0169		0.1899	False		,,,				2504	0.0859				p.K57E		.											.	IQCF1-91	0			c.A169G						.	T	GLU/LYS	440,3966	211.8+/-231.9	25,390,1788	168	155	160		169	-5.5	0	3	dbSNP_129	160	1647,6953	304.8+/-307.1	158,1331,2811	yes	missense	IQCF1	NM_152397.2	56	183,1721,4599	CC,CT,TT		19.1512,9.9864,16.0464	benign	57/206	51930850	2087,10919	2203	4300	6503	SO:0001583	missense	132141	exon3			ATACTTTTTCTGA	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.169A>G	3.37:g.51930850T>C	ENSP00000307958:p.Lys57Glu	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	99	6	NM_152397	0	0	0	0	0	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	258	0.11813186813186813	54	0.10975609756097561	50	0.13812154696132597	6	0.01048951048951049	148	0.19525065963060687	T	7.233	0.599696	0.13939	0.099864	0.191512	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.30182	1.54	3.15	-5.5	0.02576	.	2.522450	0.01453	N	0.015570	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.07644	T	0.81	-12.336	6.6923	0.23179	0.0:0.1824:0.1462:0.6715	rs57859638	57	Q8N6M8	IQCF1_HUMAN	E	57	ENSP00000307958:K57E	ENSP00000307958:K57E	K	-	1	0	IQCF1	51905890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.751000	0.01821	-1.368000	0.02149	0.448000	0.29417	AAA	T|0.851;C|0.149		0.488	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		C	51930850	T	C	51930850	3	2	45	1	0	0	0	0	1	0	0	0	7834	1850	64	4	456	4	IQCF1	3	51930850	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	5055455	51930850	146091580	16	9642											
PLXNA1	5361	hgsc.bcm.edu	37	chr3	126733053	126733053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcccggccctgcgCgagagctgcggcctctgcct	13	16	1	1	rs11719489	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:126733053C>T	ENST00000393409.2	+	11	2439	c.2439C>T	c.(2437-2439)cgC>cgT	p.R813R	PLXNA1_ENST00000251772.4_Silent_p.R790R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	813					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGCCCTGCGCGAGAGCTGCG	0.741													C|||	327	0.0652955	0.0809	0.0793	5008	,	,		11902	0.002		0.1402	False		,,,				2504	0.0225				p.R813R		.											.	PLXNA1-93	0			c.C2439T						.			339,4057		23,293,1882	18	21	20		2439	-4.7	0.9	3	dbSNP_120	20	1112,7424		88,936,3244	no	coding-synonymous	PLXNA1	NM_032242.3		111,1229,5126	TT,TC,CC		13.0272,7.7116,11.2202		813/1897	126733053	1451,11481	2198	4268	6466	SO:0001819	synonymous_variant	5361	exon11			CCTGCGCGAGAGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2439C>T	3.37:g.126733053C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_032242	0	0	0	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			C|0.900;T|0.100		0.741	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126733053	C	T	126733053	2	4	45	1	0	0	0	0	0	0	0	1	12158	755	27	1		1	PLXNA1	3	126733053	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	74802203	126733053	71289377	17	9643											
KLHL24	54800	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183388949	183388949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttctcctgcagtgactaGctgtgtaggcaaactgtttg	12	8	1	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr3:183388949G>T	ENST00000454652.2	+	7	1738	c.1352G>T	c.(1351-1353)aGc>aTc	p.S451I	KLHL24_ENST00000242810.6_Missense_Mutation_p.S451I|KLHL24_ENST00000476808.1_Missense_Mutation_p.S451I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	451						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAGTGACTAGCTGTGTAGGC	0.403																																					p.S451I		.											.	KLHL24-91	0			c.G1352T						.						226	207	214					3																	183388949		2203	4300	6503	SO:0001583	missense	54800	exon6			TGACTAGCTGTGT		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1352G>T	3.37:g.183388949G>T	ENSP00000395012:p.Ser451Ile	Somatic	231	1		WXS	Illumina GAIIx	Phase_I	218	37	NM_017644	0	0	7	9	2	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169746	0.94768	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.78481	-1.18;-1.18;-1.18	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	L	0.45581	1.43	0.80722	D	1	D;P	0.58268	0.982;0.616	P;P	0.55749	0.783;0.574	T	0.83140	-0.0109	10	0.54805	T	0.06	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	451;451	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	451	ENSP00000242810:S451I;ENSP00000395012:S451I;ENSP00000419010:S451I	ENSP00000242810:S451I	S	+	2	0	KLHL24	184871643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	AGC	.		0.403	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		T	183388949	G	T	183388949	3	4	45	1	0	0	0	0	1	0	0	0	8406	971	34	3	1366	3	KLHL24	3	183388949	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	56655896	183388949	14633481	18	9644											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	22	7	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	45	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10		4228456	186925820	19	9645											
WFS1	7466	bcgsc.ca	37	chr4	6302545	6302545	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctcaccatcgacttcttCgccttcttcatcccgctggt	5	17	4	0	rs56072215	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:6302545C>T	ENST00000226760.1	+	8	1193	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WFS1_ENST00000503569.1_Silent_p.F341F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	341					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGACTTCTTCGCCTTCTTCA	0.557													c|||	134	0.0267572	0.0038	0.036	5008	,	,		21911	0		0.0507	False		,,,				2504	0.0542				p.F341F		.											.	WFS1-91	0			c.C1023T						.		,	57,4349	57.4+/-93.9	0,57,2146	434	287	337		1023,1023	-2.3	1	4	dbSNP_129	337	632,7968	163.8+/-216.2	28,576,3696	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	28,633,5842	TT,TC,CC		7.3488,1.2937,5.2976	,	341/891,341/891	6302545	689,12317	2203	4300	6503	SO:0001819	synonymous_variant	7466	exon8			CTTCTTCGCCTTC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1023C>T	4.37:g.6302545C>T		Somatic	355	1		WXS	Illumina GAIIx	Phase_I	344	8	NM_001145853	0	0	14	14	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1	61	0.027930402930402932	2	0.0040650406504065045	19	0.052486187845303865	0	0.0	40	0.052770448548812667	c	5.588	0.293274	0.10567	0.012937	0.073488	ENSG00000109501	ENST00000506362	.	.	.	4.6	-2.33	0.06724	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	-23.4521	11.1896	0.48677	0.0:0.3372:0.0:0.6628	rs56072215;rs61735403	.	.	.	L	219	.	.	S	+	2	0	WFS1	6353446	0.192000	0.23301	0.989000	0.46669	0.988000	0.76386	-0.507000	0.06352	-0.453000	0.07076	-0.224000	0.12420	TCG	C|0.951;T|0.049		0.557	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			T	6302545	C	T	6302545	2	4	45	1	0	0	0	0	0	0	0	1	17409	883	31	1		1	WFS1	4	6302545	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	2074089	6302545	184851731	20	9646											
NKX3-2	579	hgsc.bcm.edu	37	chr4	13545716	13545716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctggccccccgcgcgtccGcgcagcgccgcctgctctcg	13	22	1	0	rs202191746	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:13545716G>C	ENST00000382438.5	-	1	958	c.323C>G	c.(322-324)gCg>gGg	p.A108G	AC006445.8_ENST00000501050.1_lincRNA	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	108					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ccgcgcgtccgcgcagcgccg	0.721													g|||	8	0.00159744	0	0.0072	5008	,	,		9903	0		0.003	False		,,,				2504	0				p.A108G		.											.	NKX3-2-68	0			c.C323G						.		GLY/ALA	3,3423		0,3,1710	4	6	5		323	3.3	0.7	4		5	12,7352		0,12,3670	no	missense	NKX3-2	NM_001189.3	60	0,15,5380	CC,CG,GG		0.163,0.0876,0.139	benign	108/334	13545716	15,10775	1713	3682	5395	SO:0001583	missense	579	exon1			GCGTCCGCGCAGC	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.323C>G	4.37:g.13545716G>C	ENSP00000371875:p.Ala108Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_001189	0	0	0	0	0	Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	CCDS3410.1	5	0.0022893772893772895	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	5.454	0.268797	0.10349	8.76E-4	0.00163	ENSG00000109705	ENST00000382438	D	0.91351	-2.83	4.17	3.32	0.38043	.	.	.	.	.	T	0.75474	0.3854	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.64918	-0.6294	9	0.28530	T	0.3	.	8.4009	0.32586	0.1134:0.0:0.8866:0.0	.	108	P78367	NKX32_HUMAN	G	108	ENSP00000371875:A108G	ENSP00000371875:A108G	A	-	2	0	NKX3-2	13154814	0.299000	0.24426	0.675000	0.29917	0.120000	0.20174	1.490000	0.35573	0.875000	0.35847	-0.142000	0.14014	GCG	G|0.998;C|0.002		0.721	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			C	13545716	G	C	13545716	3	2	45	1	0	0	0	0	1	0	0	0	10495	1087	38	2	686	2	NKX3-2	4	13545716	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	7243171	13545716	177608560	21	9647											
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	68510476	68510476	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttttcaacatttcacaGcctatggctccacaccctac	3	14	2	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:68510476G>T	ENST00000322244.5	-	17	1475	c.1416C>A	c.(1414-1416)ggC>ggA	p.G472G		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	472					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACATTTCACAGCCTATGGCTC	0.318																																					p.G472G		.											.	UBA6-90	0			c.C1416A						.						78	76	77					4																	68510476		2203	4300	6503	SO:0001819	synonymous_variant	55236	exon17			TTCACAGCCTATG	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1416C>A	4.37:g.68510476G>T		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	183	23	NM_018227	0	0	1	2	1	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107463	0.20714	.	.	ENSG00000033178	ENST00000505673	.	.	.	6.11	4.11	0.48088	.	.	.	.	.	T	0.46833	0.1413	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45396	-0.9264	4	.	.	.	-10.1529	2.8273	0.05489	0.112:0.1466:0.4419:0.2995	.	.	.	.	D	6	.	.	A	-	2	0	UBA6	68193071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.077000	0.41557	1.545000	0.49373	0.655000	0.94253	GCT	.		0.318	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68510476	G	T	68510476	2	4	45	1	0	0	0	0	0	0	0	1	16881	958	34	3		3	UBA6	4	68510476	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	54964760	68510476	122643800	22	9648											
UGT2B11	10720	ucsc.edu	37	chr4	70066376	70066376	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatccagaagactgctcgatCcaggggctttactggttgat	11	9	0	3	rs144149579	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:70066376C>G	ENST00000446444.1	-	6	1380	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	458					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.D458H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTGCTCGATCCAGGGGCTTT	0.408																																					p.D458H		.											.	UGT2B11-93	1	Substitution - Missense(1)	skin(1)	c.G1372C						.						104	107	106					4																	70066376		2203	4298	6501	SO:0001583	missense	10720	exon6			CTCGATCCAGGGG	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1372G>C	4.37:g.70066376C>G	ENSP00000387683:p.Asp458His	Somatic	83	5		WXS	Illumina GAIIx	Phase_I	77	18	NM_001073	0	0	0	0	0	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.29	1.595749	0.28445	.	.	ENSG00000213759	ENST00000446444	T	0.73469	-0.75	1.27	1.27	0.21489	.	0.000000	0.64402	U	0.000002	D	0.88738	0.6518	H	0.97415	4	0.31420	N	0.674431	D	0.89917	1.0	D	0.81914	0.995	D	0.86564	0.1843	10	0.87932	D	0	.	8.4963	0.33130	0.0:1.0:0.0:0.0	.	458	O75310	UDB11_HUMAN	H	458	ENSP00000387683:D458H	ENSP00000387683:D458H	D	-	1	0	UGT2B11	70100965	0.997000	0.39634	0.937000	0.37676	0.142000	0.21351	3.075000	0.50073	1.023000	0.39654	0.184000	0.17185	GAT	C|0.932;G|0.068		0.408	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		G	70066376	C	G	70066376	3	3	45	1	0	0	0	0	1	0	0	0	17006	855	30	3	221	3	UGT2B11	4	70066376	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	1555900	70066376	121087900	23	9649											
UGT2B11	10720	ucsc.edu	37	chr4	70066408	70066408	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggttgatcatgttgaattCttgataatttcataatattc	6	5	3	3	rs200919649		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr4:70066408C>A	ENST00000446444.1	-	6	1348	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	447					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGTTGAATTCTTGATAATTT	0.373																																					p.R447I		.											.	UGT2B11-93	0			c.G1340T						.						66	71	69					4																	70066408		2203	4298	6501	SO:0001583	missense	10720	exon6			TGAATTCTTGATA	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1340G>T	4.37:g.70066408C>A	ENSP00000387683:p.Arg447Ile	Somatic	61	2		WXS	Illumina GAIIx	Phase_I	55	10	NM_001073	0	0	0	0	0	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000882	0.07819	.	.	ENSG00000213759	ENST00000446444	T	0.62788	0.0	1.27	0.283	0.15696	.	0.310296	0.24102	U	0.041536	T	0.51787	0.1695	L	0.50993	1.605	0.30965	N	0.723211	B	0.20780	0.048	B	0.25987	0.065	T	0.53351	-0.8451	10	0.72032	D	0.01	.	7.0366	0.24996	0.0:0.7131:0.2869:0.0	.	447	O75310	UDB11_HUMAN	I	447	ENSP00000387683:R447I	ENSP00000387683:R447I	R	-	2	0	UGT2B11	70100997	0.000000	0.05858	0.541000	0.28102	0.201000	0.24016	-0.075000	0.11431	0.079000	0.16929	0.184000	0.17185	AGA	.		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		A	70066408	C	A	70066408	3	1	45	1	0	0	0	0	1	0	0	0	17006	913	32	3	253	3	UGT2B11	4	70066408	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	32	70066408	121087868	24	9650											
ADAMTS16	170690	hgsc.bcm.edu	37	chr5	5140798	5140798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgtgcgccatgggaCccgcagcggcagcgcctggg	16	16	0	0	rs61754840	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr5:5140798C>T	ENST00000274181.7	+	2	232	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	CTD-2297D10.2_ENST00000512155.1_RNA|CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P32S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	32					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						CGCCATGGGACCCGCAGCGGC	0.741													C|||	5	0.000998403	0	0	5008	,	,		12282	0		0.001	False		,,,				2504	0.0041				p.P32S		.											.	ADAMTS16-275	0			c.C94T						.	C	SER/PRO	3,3543		0,3,1770	4	6	6		94	0.1	0.7	5	dbSNP_129	6	10,7804		0,10,3897	yes	missense	ADAMTS16	NM_139056.2	74	0,13,5667	TT,TC,CC		0.128,0.0846,0.1144	benign	32/1225	5140798	13,11347	1773	3907	5680	SO:0001583	missense	170690	exon2			ATGGGACCCGCAG	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.94C>T	5.37:g.5140798C>T	ENSP00000274181:p.Pro32Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325207	0.05350	8.46E-4	0.00128	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61274	0.23;0.12	3.89	0.139	0.14798	.	0.822214	0.09935	N	0.736699	T	0.34803	0.0910	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29646	0.164;0.253;0.164	B;B;B	0.25405	0.027;0.06;0.027	T	0.18808	-1.0325	10	0.08381	T	0.77	.	7.41	0.27011	0.2154:0.5034:0.2811:0.0	rs61754840	32;32;32	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	32	ENSP00000274181:P32S;ENSP00000421631:P32S	ENSP00000274181:P32S	P	+	1	0	ADAMTS16	5193798	0.003000	0.15002	0.704000	0.30370	0.122000	0.20287	-0.844000	0.04345	0.242000	0.21303	-0.676000	0.03789	CCC	C|0.995;T|0.005		0.741	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5140798	C	T	5140798	3	4	45	1	0	0	0	0	1	0	0	0	261	507	18	3	100	3	ADAMTS16	5	5140798	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		5140798	175774462	25	9651											
TRERF1	55809	broad.mit.edu	37	chr6	42236973	42236973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtaggtgtattggtagCcatcagtgggctcagcctgg	17	7	2	0	rs61756353	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:42236973C>T	ENST00000372922.4	-	5	918	c.356G>A	c.(355-357)gGc>gAc	p.G119D	TRERF1_ENST00000541110.1_Missense_Mutation_p.G119D|TRERF1_ENST00000372917.4_Missense_Mutation_p.G119D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G119D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G119D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	119					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTATTGGTAGCCATCAGTGGG	0.572													C|||	15	0.00299521	0	0	5008	,	,		19457	0		0.002	False		,,,				2504	0.0133				p.G119D		.											.	TRERF1-230	0			c.G356A						.	C	ASP/GLY	3,4403	6.2+/-15.9	0,3,2200	165	167	166		356	4.6	1	6	dbSNP_129	166	29,8571	20.4+/-63.3	0,29,4271	yes	missense	TRERF1	NM_033502.2	94	0,32,6471	TT,TC,CC		0.3372,0.0681,0.246	probably-damaging	119/1201	42236973	32,12974	2203	4300	6503	SO:0001583	missense	55809	exon5			TGGTAGCCATCAG	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.356G>A	6.37:g.42236973C>T	ENSP00000362013:p.Gly119Asp	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	114	4	NM_033502	0	0	0	0	0	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.88	2.964211	0.53507	6.81E-4	0.003372	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.18960	2.43;2.18;2.37;2.18;2.19	5.5	4.61	0.57282	.	0.096885	0.45361	D	0.000363	T	0.23886	0.0578	L	0.32530	0.975	0.37383	D	0.912135	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.71414	0.973;0.878;0.878	T	0.07908	-1.0748	10	0.87932	D	0	-9.923	14.61	0.68510	0.0:0.7229:0.2771:0.0	rs61756353	119;119;119	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	D	119	ENSP00000439689:G119D;ENSP00000362008:G119D;ENSP00000362013:G119D;ENSP00000339438:G119D;ENSP00000346285:G119D	ENSP00000339438:G119D	G	-	2	0	TRERF1	42344951	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.339000	0.52135	1.291000	0.44653	0.462000	0.41574	GGC	C|0.997;T|0.003		0.572	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42236973	C	T	42236973	3	4	45	1	0	0	0	0	1	0	0	0	16523	739	26	3	3302	3	TRERF1	6	42236973	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		42236973	128878094	26	9652											
DST	667	bcgsc.ca	37	chr6	56327849	56327849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccttacaatacctctgCagatggcacgggaaagtctg	13	10	2	1	rs11758339	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:56327849C>T	ENST00000244364.6	-	82	15331	c.15124G>A	c.(15124-15126)Gca>Aca	p.A5042T	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_3'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	7442					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)			AATACCTCTGCAGATGGCACG	0.433													C|||	1095	0.21865	0.0802	0.2507	5008	,	,		19212	0.2401		0.2515	False		,,,				2504	0.3272				p.A5042T		.											.	DST-523	0			c.G15124A						.	C	THR/ALA	393,3485		16,361,1562	132	124	126		15124	1.9	1	6	dbSNP_120	126	2167,6149		295,1577,2286	yes	missense	DST	NM_015548.4	58	311,1938,3848	TT,TC,CC		26.0582,10.1341,20.9939	benign	5042/5172	56327849	2560,9634	1939	4158	6097	SO:0001583	missense	667	exon82			CCTCTGCAGATGG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.15124G>A	6.37:g.56327849C>T	ENSP00000244364:p.Ala5042Thr	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	127	6	NM_015548	0	0	1	1	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1	446	0.2042124542124542	35	0.07113821138211382	103	0.2845303867403315	129	0.22552447552447552	179	0.23614775725593667	C	10.24	1.295014	0.23564	0.101341	0.260582	ENSG00000151914	ENST00000244364	T	0.39592	1.07	5.79	1.9	0.25705	.	.	.	.	.	T	0.05686	0.0149	N	0.11427	0.14	0.09310	P	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.37244	-0.9714	8	0.02654	T	1	.	7.175	0.25738	0.0:0.4431:0.3626:0.1943	rs11758339;rs17234615;rs52794909;rs61232913;rs11758339	5042;129	Q03001-8;Q86T18	.;.	T	5042	ENSP00000244364:A5042T	ENSP00000244364:A5042T	A	-	1	0	DST	56435808	0.923000	0.31300	0.998000	0.56505	0.993000	0.82548	0.212000	0.17497	0.335000	0.23614	0.655000	0.94253	GCA	C|0.788;T|0.212		0.433	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		T	56327849	C	T	56327849	3	4	45	1	0	0	0	0	1	0	0	0	4797	710	25	3	403	3	DST	6	56327849	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	14090876	56327849	114787218	27	9653											
DST	667	bcgsc.ca	37	chr6	56484758	56484758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagttcttctgctttctgCttgtcatgttcttgctggag	10	8	5	1	rs2230862	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:56484758C>T	ENST00000370765.6	-	23	4181	c.4074G>A	c.(4072-4074)aaG>aaA	p.K1358K	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTTCTGCTTGTCATGTT	0.443													T|||	1685	0.336462	0.4523	0.3746	5008	,	,		19178	0.2034		0.3946	False		,,,				2504	0.2301				p.K1358K		.											.	DST-523	0			c.G4074A						.	T	,	1918,2488	626.8+/-394.8	399,1120,684	194	180	185		4074,	-2.8	0	6	dbSNP_98	185	3584,5016	627.4+/-398.0	762,2060,1478	no	coding-synonymous,intron	DST	NM_001723.5,NM_015548.4	,	1161,3180,2162	TT,TC,CC		41.6744,43.5315,42.3036	,	1358/2650,	56484758	5502,7504	2203	4300	6503	SO:0001819	synonymous_variant	667	exon23			TTTCTGCTTGTCA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4074G>A	6.37:g.56484758C>T		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	124	6	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																			C|0.609;T|0.391		0.443	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56484758	C	T	56484758	2	4	45	1	0	0	0	0	0	0	0	1	4797	796	28	3		3	DST	6	56484758	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	156909	56484758	114630309	28	9654											
CTGF	1490	hgsc.bcm.edu	37	chr6	132271952	132271952	+	Missense_Mutation	SNP	G	G	C													gttggccggggagccgaagtGacagaataggcccttgtgcg					rs7451102		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271952G>C	ENST00000367976.3	-	2	447	c.247C>G	c.(247-249)Cac>Gac	p.H83D	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	83	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.		H -> D (in dbSNP:rs7451102). {ECO:0000269|PubMed:1293144, ECO:0000269|PubMed:1654338, ECO:0000269|PubMed:9054739, ECO:0000269|Ref.12, ECO:0000269|Ref.4, ECO:0000269|Ref.5, ECO:0000269|Ref.6, ECO:0000269|Ref.7}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GAGCCGAAGTGACAGAATAGG	0.711													C|||	5007	0.9998	1	1	5008	,	,		8487	1		0.999	False		,,,				2504	1				p.H83D	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.C247G						.						7	8	7					6																	132271952		2119	4187	6306	SO:0001583	missense	1490	exon2			CGAAGTGACAGAA	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.247C>G	6.37:g.132271952G>C	ENSP00000356954:p.His83Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	2184	1.0	492	1.0	362	1.0	572	1.0	758	1.0	C	8.018	0.758919	0.15846	.	.	ENSG00000118523	ENST00000367976	T	0.62232	0.04	5.28	5.28	0.74379	Insulin-like growth factor-binding protein, IGFBP (2);	0.048665	0.85682	N	0.000000	T	0.06781	0.0173	N	0.00042	-2.475	0.40675	P	0.017750000000000044	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.02654	T	1	.	15.7931	0.78384	0.0:0.863:0.137:0.0	rs7451102;rs59294435	83	P29279	CTGF_HUMAN	D	83	ENSP00000356954:H83D	ENSP00000356954:H83D	H	-	1	0	CTGF	132313645	1.000000	0.71417	0.923000	0.36655	0.645000	0.38454	4.000000	0.57039	1.236000	0.43740	-0.293000	0.09583	CAC	G|0.000;C|1.000		0.711	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		C	132271952	G	C	132271952	3	2	45	1	0	0	0	0	1	0	0	0	4017	1290	45	3	818	3	CTGF	6	132271952	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	75787194	132271952	38843115	29	9655	98	2									
CTGF	1490	hgsc.bcm.edu	37	chr6	132271959	132271959	+	Silent	SNP	T	T	G													ggggagccgaagtgacagaaTaggcccttgtgcgggtcgca					rs12206231		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271959T>G	ENST00000367976.3	-	2	440	c.240A>C	c.(238-240)ctA>ctC	p.L80L	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		AGTGACAGAATAGGCCCTTGT	0.701													G|||	5008	1	1	1	5008	,	,		8368	1		1	False		,,,				2504	1				p.L80L	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A240C						.						7	8	7					6																	132271959		2127	4192	6319	SO:0001819	synonymous_variant	1490	exon2			ACAGAATAGGCCC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.240A>C	6.37:g.132271959T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001901	0	0	0	0	0	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.701	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271959	T	G	132271959	2	3	45	1	0	0	0	0	0	0	0	1	4017	1393	49	5		5	CTGF	6	132271959	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	7	132271959	38843108	30	9656	98	2									
CTGF	1490	hgsc.bcm.edu	37	chr6	132271980	132271980	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag	17	12	0	0	rs6934749		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:132271980T>G	ENST00000367976.3	-	2	419	c.219A>C	c.(217-219)ccA>ccC	p.P73P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													G|||	5008	1	1	1	5008	,	,		7576	1		1	False		,,,				2504	1				p.P73P	Esophageal Squamous(127;510 1660 12817 24400 38449)	.											.	CTGF-90	0			c.A219C						.						6	8	7					6																	132271980		2100	4127	6227	SO:0001819	synonymous_variant	1490	exon2			GTCGCATGGGTCG	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.219A>C	6.37:g.132271980T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001901	0	0	0	7	7	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	CCDS5151.1																																																																																			T|0.000;G|1.000		0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		G	132271980	T	G	132271980	2	3	45	1	0	0	0	0	0	0	0	1	4017	1451	51	5		5	CTGF	6	132271980	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	21	132271980	38843087	31	9657											
MTRF1L	54516	hgsc.bcm.edu	37	chr6	153323806	153323806	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgggcagcgccccacagAacccgggaccgcatccttag	11	18	0	1	rs3818126	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:153323806A>G	ENST00000367233.5	-	1	14	c.15T>C	c.(13-15)gtT>gtC	p.V5V	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Silent_p.V5V|MTRF1L_ENST00000367230.1_Silent_p.V5V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	5						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CGCCCCACAGAACCCGGGACC	0.692													A|||	1188	0.23722	0.267	0.3012	5008	,	,		9940	0.1498		0.161	False		,,,				2504	0.32				p.V5V		.											.	MTRF1L-90	0			c.T15C						.	A	,	326,1946		13,300,823	1	2	2		15,15	-9.6	0	6	dbSNP_107	2	560,4588		15,530,2029	no	coding-synonymous,coding-synonymous	MTRF1L	NM_001114184.1,NM_019041.5	,	28,830,2852	GG,GA,AA		10.878,14.3486,11.9407	,	5/272,5/381	153323806	886,6534	1136	2574	3710	SO:0001819	synonymous_variant	54516	exon1			CCACAGAACCCGG	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.15T>C	6.37:g.153323806A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_019041	0	0	0	0	0	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																			A|0.800;G|0.200		0.692	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		G	153323806	A	G	153323806	2	3	45	1	0	0	0	0	0	0	0	1	9998	233	9	4		4	MTRF1L	6	153323806	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	21051826	153323806	17791261	32	9658											
TBP	6908	bcgsc.ca	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	13	13	0	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	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)		agcagcagcagcagcagcagc	0.622																																					p.Q90Q		.											.	TBP-91	0			c.G270A						.						22	28	26					6																	170871094		1899	3721	5620	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAGCAG	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.270G>A	6.37:g.170871094G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	102	9	NM_003194	0	1	75	78	2	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871094	G	A	170871094	2	1	45	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871094	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	17547288	170871094	243973	33	9659											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584372.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_002047	0	0	1	2	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	45	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		30634661	128504002	34	9660											
MYO1G	64005	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	45009379	45009387	+	In_Frame_Del	DEL	GCCAGCAGA	GCCAGCAGA	-													aagattcggtcagtgatggtGccagcagagctgcaggcctc							TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	GCCAGCAGA	GCCAGCAGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:45009379_45009387delGCCAGCAGA	ENST00000258787.7	-	11	1556_1564	c.1420_1428delTCTGCTGGC	c.(1420-1428)tctgctggcdel	p.SAG474del		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	474	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGTGATGGTGCCAGCAGAGCTGCAGGCC	0.632																																					p.474_476del		.											.	MYO1G-137	0			c.1420_1428del						.																																			SO:0001651	inframe_deletion	64005	exon11			GATGGTGCCAGCA	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1420_1428delTCTGCTGGC	7.37:g.45009379_45009387delGCCAGCAGA	ENSP00000258787:p.Ser474_Gly476del	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	126	38	NM_033054	0	0	0	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	In_Frame_Del	DEL	ENST00000258787.7	37	CCDS34629.1																																																																																			.		0.632	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			-	45009387	GCCAGCAGA	-	45009379	7	5	45	1	0	1	0	1	0	0	0	0	10112	1306	46	0	1676	0	MYO1G	7	45009379	In_Frame_Del	DEL	GCCAGCAGA	TCGA-OR-A5L5-01A-11D-A29I-10	14374718	45009379	114129284	35	9661											
AUTS2	26053	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	70227999	70227999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagcctgtggtgcttAaagacccctgccctcaggtc	10	13	2	2			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:70227999A>G	ENST00000342771.4	+	7	1207	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	AUTS2_ENST00000406775.2_Missense_Mutation_p.K296E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	296										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGTGGTGCTTAAAGACCCCTG	0.592																																					p.K296E		.											.	AUTS2-92	0			c.A886G						.						100	100	100					7																	70227999		2203	4300	6503	SO:0001583	missense	26053	exon7			GTGCTTAAAGACC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.886A>G	7.37:g.70227999A>G	ENSP00000344087:p.Lys296Glu	Somatic	101	1		WXS	Illumina GAIIx	Phase_I	106	57	NM_001127231	0	0	0	0	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104777	0.77096	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.32515	1.45;1.47	5.47	4.24	0.50183	.	0.554256	0.19262	N	0.118646	T	0.21962	0.0529	L	0.29908	0.895	0.80722	D	1	B;B	0.28291	0.206;0.206	B;B	0.28011	0.085;0.085	T	0.05007	-1.0912	9	.	.	.	-12.0518	11.7178	0.51663	0.7382:0.2618:0.0:0.0	.	296;296	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	E	296	ENSP00000385263:K296E;ENSP00000344087:K296E	.	K	+	1	0	AUTS2	69865935	0.992000	0.36948	0.999000	0.59377	0.977000	0.68977	3.037000	0.49775	2.069000	0.61940	0.455000	0.32223	AAA	.		0.592	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			G	70227999	A	G	70227999	3	3	45	1	0	0	0	0	1	0	0	0	1226	363	13	4	1057	4	AUTS2	7	70227999	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	25218620	70227999	88910664	36	9662											
STEAP1	26872	ucsc.edu	37	chr7	89790570	89790570	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgcatgcaatttataGtctgtcttacccaatgaggc	8	9	2	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:89790570G>C	ENST00000297205.2	+	3	736	c.536G>C	c.(535-537)aGt>aCt	p.S179T	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	179	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GCAATTTATAGTCTGTCTTAC	0.378																																					p.S179T		.											.	STEAP1-522	0			c.G536C						.						103	87	92					7																	89790570		2203	4299	6502	SO:0001583	missense	26872	exon3			TTTATAGTCTGTC	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.536G>C	7.37:g.89790570G>C	ENSP00000297205:p.Ser179Thr	Somatic	126	3		WXS	Illumina GAIIx	Phase_I	117	16	NM_012449	0	0	2	2	0	A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718340	0.15372	.	.	ENSG00000164647	ENST00000297205	D	0.90324	-2.65	5.15	4.28	0.50868	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	N	0.25245	0.725	0.44780	D	0.997787	B;P	0.36753	0.01;0.568	B;B	0.33568	0.027;0.166	T	0.81189	-0.1046	10	0.24483	T	0.36	-9.4825	16.0075	0.80372	0.0:0.1348:0.8652:0.0	.	179;179	B4E221;Q9UHE8	.;STEA1_HUMAN	T	179	ENSP00000297205:S179T	ENSP00000297205:S179T	S	+	2	0	STEAP1	89628506	1.000000	0.71417	0.579000	0.28588	0.356000	0.29392	8.879000	0.92398	1.416000	0.47057	-0.218000	0.12543	AGT	.		0.378	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		C	89790570	G	C	89790570	3	2	45	1	0	0	0	0	1	0	0	0	15324	1029	36	3	542	3	STEAP1	7	89790570	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	19562571	89790570	69348093	37	9663											
LRCH4	4034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	100175783	100175783	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggacaggacgcccttaccTcatttccagaccacctcttg	7	15	2	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:100175783T>A	ENST00000310300.6	-	7	999	c.947A>T	c.(946-948)gAg>gTg	p.E316V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	316					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCCTTACCTCATTTCCAGA	0.587																																					p.E316V		.											.	LRCH4-136	0			c.A947T						.						149	110	124					7																	100175783		2203	4300	6503	SO:0001630	splice_region_variant	4034	exon7			CTTACCTCATTTC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.948+1A>T	7.37:g.100175783T>A		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	124	12	NM_002319	0	0	6	13	7	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.560945	0.86335	.	.	ENSG00000077454	ENST00000310300	T	0.49139	0.79	5.46	5.46	0.80206	.	0.056455	0.64402	D	0.000001	T	0.65842	0.2730	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	P	0.60949	0.881	T	0.71130	-0.4682	10	0.87932	D	0	-25.7153	13.53	0.61617	0.0:0.0:0.0:1.0	.	316	O75427	LRCH4_HUMAN	V	316	ENSP00000309689:E316V	ENSP00000309689:E316V	E	-	2	0	LRCH4	100013719	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.689000	0.84165	2.092000	0.63282	0.440000	0.28878	GAG	.		0.587	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	Missense_Mutation	A	100175783	T	A	100175783	5	1	45	1	0	0	0	0	0	0	1	0	8970	1565	54	5	1152	5	LRCH4	7	100175783	Splice_Site	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	10385213	100175783	58962880	38	9664											
DGKI	9162	bcgsc.ca	37	chr7	137304602	137304602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccttaatgatccaagtggGcgggacaataacagcagcat	10	10	0	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:137304602G>T	ENST00000288490.5	-	8	961	c.961C>A	c.(961-963)Ccc>Acc	p.P321T	DGKI_ENST00000446122.1_Missense_Mutation_p.P321T|DGKI_ENST00000424189.2_Missense_Mutation_p.P321T|DGKI_ENST00000453654.2_Missense_Mutation_p.P21T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	321					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						ATCCAAGTGGGCGGGACAATA	0.488																																					p.P321T		.											.	DGKI-228	0			c.C961A						.						117	115	116					7																	137304602		2203	4300	6503	SO:0001583	missense	9162	exon8			AAGTGGGCGGGAC	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.961C>A	7.37:g.137304602G>T	ENSP00000288490:p.Pro321Thr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	59	4	NM_004717	0	0	0	0	0	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052329	0.93793	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.67171	0.06;-0.25;-0.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84563	0.0651	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	21;321	E9PFX6;O75912	.;DGKI_HUMAN	T	21;269;321;321;321	ENSP00000392161:P21T;ENSP00000288490:P321T;ENSP00000399131:P321T	ENSP00000288490:P321T	P	-	1	0	DGKI	136955142	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCC	.		0.488	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		T	137304602	G	T	137304602	3	4	45	1	0	0	0	0	1	0	0	0	4485	1203	42	3	2344	3	DGKI	7	137304602	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	37128819	137304602	21834061	39	9665											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtggtccgcatgaagCgcagaggcgggcgcgggccg	20	12	0	2	rs6969990	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			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)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3	4	3		70	4.4	0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	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.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156742501	C	G	156742501	3	3	45	1	0	0	0	0	1	0	0	0	10569	768	27	2	72	2	NOM1	7	156742501	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	19437899	156742501	2396162	40	9666											
UBE3C	9690	hgsc.bcm.edu	37	chr7	157013436	157013436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaggttccggcggatGgggaggataggcccgctgca	20	8	0	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr7:157013436G>T	ENST00000348165.5	+	15	2328	c.1968G>T	c.(1966-1968)atG>atT	p.M656I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	656					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCCGGCGGATGGGGAGGATAG	0.542																																					p.M656I		.											.	UBE3C-704	0			c.G1968T						.						104	86	92					7																	157013436		2203	4300	6503	SO:0001583	missense	9690	exon15			GCGGATGGGGAGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1968G>T	7.37:g.157013436G>T	ENSP00000309198:p.Met656Ile	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	66	4	NM_014671	0	0	1	1	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260153	0.80246	.	.	ENSG00000009335	ENST00000348165	T	0.40756	1.02	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.63428	1.95	0.80722	D	1	P	0.37781	0.608	B	0.36134	0.218	T	0.30822	-0.9965	10	0.14656	T	0.56	.	19.1126	0.93323	0.0:0.0:1.0:0.0	.	656	Q15386	UBE3C_HUMAN	I	656	ENSP00000309198:M656I	ENSP00000309198:M656I	M	+	3	0	UBE3C	156706197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.155000	0.77445	2.591000	0.87537	0.655000	0.94253	ATG	.		0.542	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	157013436	G	T	157013436	3	4	45	1	0	0	0	0	1	0	0	0	16930	1348	47	3	2026	3	UBE3C	7	157013436	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	270935	157013436	2125227	41	9667											
GPR124	25960	broad.mit.edu	37	chr8	37698805	37698805	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggctcaggggcagcggCcccctcctgagtgactcagg	14	15	2	2			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:37698805C>A	ENST00000412232.2	+	19	2962	c.2949C>A	c.(2947-2949)ggC>ggA	p.G983G	GPR124_ENST00000315215.7_Silent_p.G766G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	983					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGGCAGCGGCCCCCTCCTGA	0.687																																					p.G983G		.											.	GPR124-157	0			c.C2949A						.						21	26	24					8																	37698805		2203	4296	6499	SO:0001819	synonymous_variant	25960	exon19			CAGCGGCCCCCTC	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.2949C>A	8.37:g.37698805C>A		Somatic	24	0		WXS	Illumina GAIIx	Phase_I	49	6	NM_032777	0	0	2	2	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.687	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			A	37698805	C	A	37698805	2	1	45	1	0	0	0	0	0	0	0	1	6664	726	26	3		3	GPR124	8	37698805	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		37698805	108665217	42	9668											
GPR124	25960	hgsc.bcm.edu	37	chr8	37699516	37699516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtccagcgagagcggCagtctgcacaacagccccac	11	16	1	1	rs7010546	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:37699516C>T	ENST00000412232.2	+	19	3673	c.3660C>T	c.(3658-3660)ggC>ggT	p.G1220G	GPR124_ENST00000315215.7_Silent_p.G1003G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1220					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGAGAGCGGCAGTCTGCACA	0.746													C|||	2324	0.464058	0.3048	0.5144	5008	,	,		7503	0.6716		0.4165	False		,,,				2504	0.4785				p.G1220G		.											.	GPR124-157	0			c.C3660T						.	C		594,1854		106,382,736	2	3	2		3660	3.1	1	8	dbSNP_116	2	1524,3502		291,942,1280	no	coding-synonymous	GPR124	NM_032777.9		397,1324,2016	TT,TC,CC		30.3223,24.2647,28.3382		1220/1339	37699516	2118,5356	1224	2513	3737	SO:0001819	synonymous_variant	25960	exon19			GAGCGGCAGTCTG	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.3660C>T	8.37:g.37699516C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2	1050	0.4807692307692308	166	0.33739837398373984	169	0.46685082872928174	397	0.6940559440559441	318	0.41952506596306066	C	4.050	0.006880	0.07866	0.242647	0.303223	ENSG00000020181	ENST00000416514	.	.	.	3.95	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999997394	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-18.0593	4.3087	0.10960	0.1378:0.5532:0.2174:0.0916	rs7010546;rs59434562;rs7010546	.	.	.	X	1213	.	ENSP00000405145:Q1213X	Q	+	1	0	GPR124	37818674	0.843000	0.29541	1.000000	0.80357	0.388000	0.30384	-0.114000	0.10757	0.874000	0.35823	0.313000	0.20887	CAG	C|0.479;G|0.000;T|0.520		0.746	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37699516	C	T	37699516	2	4	45	1	0	0	0	0	0	0	0	1	6664	697	25	3		3	GPR124	8	37699516	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	711	37699516	108664506	43	9669											
EPPK1	83481	hgsc.bcm.edu	37	chr8	144940543	144940543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcctggatctcgccGcccaccacgcccgcggccac	9	21	2	0	rs369151354		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr8:144940543G>A	ENST00000525985.1	-	2	6950	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G				P58107	EPIPL_HUMAN	epiplakin 1	2293						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)			GGATCTCGCCGCCCACCACGC	0.706																																					p.G2293G		.											.	EPPK1-25	0			c.C6879T						.	G		0,4344		0,0,2172	84	83	83		6879	1.6	1	8		83	1,8501		0,1,4250	no	coding-synonymous	EPPK1	NM_031308.1		0,1,6422	AA,AG,GG		0.0118,0.0,0.0078		2293/2420	144940543	1,12845	2172	4251	6423	SO:0001819	synonymous_variant	83481	exon1			CTCGCCGCCCACC	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.6879C>T	8.37:g.144940543G>A		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	111	13	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940543	G	A	144940543	2	1	45	1	0	0	0	0	0	0	0	1	5206	1074	38	1		1	EPPK1	8	144940543	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	107241027	144940543	1423479	44	9670											
DMRT1	1761	hgsc.bcm.edu	37	chr9	841971	841971	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtgggggcggccagcggcTcgagcgccgggggcagcagc	21	12	0	0	rs3739583	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:841971T>A	ENST00000382276.3	+	1	282	c.133T>A	c.(133-135)Tcg>Acg	p.S45T	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	45			S -> T (in dbSNP:rs3739583). {ECO:0000269|PubMed:10332030, ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:16617334}.		cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCCAGCGGCTCGAGCGCCGG	0.756													T|||	1125	0.224641	0.0923	0.2017	5008	,	,		10887	0.4722		0.1223	False		,,,				2504	0.2699				p.S45T		.											.	DMRT1-515	0			c.T133A						.	T	THR/SER	381,3479		16,349,1565	4	5	5		133	-1.9	0	9	dbSNP_107	5	945,6747		48,849,2949	no	missense	DMRT1	NM_021951.2	58	64,1198,4514	AA,AT,TT		12.2855,9.8705,11.4785	benign	45/374	841971	1326,10226	1930	3846	5776	SO:0001583	missense	1761	exon1			AGCGGCTCGAGCG	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.133T>A	9.37:g.841971T>A	ENSP00000371711:p.Ser45Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_021951	0	0	0	0	0	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	CCDS6442.1	482	0.2206959706959707	65	0.13211382113821138	69	0.19060773480662985	259	0.4527972027972028	89	0.11741424802110818	t	3.227	-0.158317	0.06544	0.098705	0.122855	ENSG00000137090	ENST00000451501;ENST00000382276	T	0.18338	2.22	3.29	-1.87	0.07737	.	4.016930	0.01046	N	0.004398	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.16166	0.016	B	0.12156	0.007	T	0.46816	-0.9164	9	0.11485	T	0.65	.	2.6176	0.04907	0.219:0.1045:0.4923:0.1842	rs3739583;rs3739583	45	Q9Y5R6	DMRT1_HUMAN	T	45	ENSP00000371711:S45T	ENSP00000371711:S45T	S	+	1	0	DMRT1	831971	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	-0.232000	0.09811	0.454000	0.30748	TCG	T|0.317;A|0.683		0.756	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		A	841971	T	A	841971	3	1	45	1	0	0	0	0	1	0	0	0	4599	1551	54	5	135	5	DMRT1	9	841971	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10		841971	140371460	45	9671											
UBAP2	55833	bcgsc.ca	37	chr9	33941759	33941759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctactggactagcagaaTtcagtgatgagcttgtcaga	11	7	2	4	rs307658	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:33941759T>C	ENST00000379238.1	-	16	1934	c.1817A>G	c.(1816-1818)aAt>aGt	p.N606S	UBAP2_ENST00000379239.4_Missense_Mutation_p.N339S|UBAP2_ENST00000418786.2_Missense_Mutation_p.N553S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N606S|UBAP2_ENST00000449054.1_Missense_Mutation_p.N606S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N361S|UBAP2_ENST00000379225.1_Missense_Mutation_p.N239S					ubiquitin associated protein 2									p.N606S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTAGCAGAATTCAGTGATGA	0.448													C|||	1857	0.370807	0.5083	0.268	5008	,	,		18167	0.1726		0.3837	False		,,,				2504	0.4489				p.N606S		.											.	UBAP2-94	1	Substitution - Missense(1)	stomach(1)	c.A1817G						.	C	SER/ASN	2060,2346	607.3+/-390.9	478,1104,621	174	159	164		1817	5.8	1	9	dbSNP_79	164	3291,5309	646.8+/-400.3	648,1995,1657	yes	missense	UBAP2	NM_018449.2	46	1126,3099,2278	CC,CT,TT		38.2674,46.7544,41.1425	benign	606/1120	33941759	5351,7655	2203	4300	6503	SO:0001583	missense	55833	exon16			GCAGAATTCAGTG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1817A>G	9.37:g.33941759T>C	ENSP00000368540:p.Asn606Ser	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	145	5	NM_018449	0	0	1	1	0		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	778	0.35622710622710624	248	0.5040650406504065	106	0.292817679558011	114	0.1993006993006993	310	0.40897097625329815	C	1.094	-0.663234	0.03428	0.467544	0.382674	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.79;2.79;2.79;2.58;2.59;2.28;2.05	5.76	5.76	0.90799	.	0.521330	0.23587	N	0.046596	T	0.00012	0.0000	N	0.01015	-1.05	0.58432	P	4.000000000004E-6	B;B;B;B;B;B;B;B	0.17038	0.0;0.006;0.0;0.0;0.0;0.001;0.003;0.02	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.002	T	0.41124	-0.9526	9	0.02654	T	1	-4.2248	12.9291	0.58276	0.0:0.866:0.0:0.134	rs307658;rs601694;rs1626808;rs52833981;rs60695207;rs307658	553;531;361;339;515;239;531;606	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	S	606;606;606;515;339;361;553;239	ENSP00000368540:N606S;ENSP00000416932:N606S;ENSP00000354039:N606S;ENSP00000368541:N339S;ENSP00000439329:N361S;ENSP00000404436:N553S;ENSP00000368527:N239S	ENSP00000354039:N606S	N	-	2	0	UBAP2	33931759	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.117000	0.41939	1.449000	0.47699	-0.119000	0.15052	AAT	T|0.481;G|0.077		0.448	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		C	33941759	T	C	33941759	3	2	45	1	0	0	0	0	1	0	0	0	16886	1493	52	4	1598	4	UBAP2	9	33941759	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	33099788	33941759	107271672	46	9672											
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA													catcttgtctcccagcgtcaINStcttgtctcccagtgtccaa					rs567658963|rs536300617	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		Somatic	493	0		WXS	Illumina GAIIx	Phase_I	429	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		TCTTGTCTCCCAGCGTCA	90534193	-	TCTTGTCTCCCAGCGTCA	90534192	6	5	45	0	1	1	1	0	0	0	0	0	5645	217	8	0		0	FAM75C1	9	90534192	RNA	INS	-	TCGA-OR-A5L5-01A-11D-A29I-10	56592433	90534192	50679239	47	9673											
FGD3	89846	bcgsc.ca	37	chr9	95738781	95738781	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgggatcgacagtccCtcctccagtgtggctggaga	14	12	0	1	rs3802381	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:95738781C>A	ENST00000375482.3	+	3	739	c.243C>A	c.(241-243)ccC>ccA	p.P81P	FGD3_ENST00000337352.6_Silent_p.P81P|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.P81P	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	81					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCGACAGTCCCTCCTCCAGTG	0.647													A|||	2995	0.598043	0.5832	0.6239	5008	,	,		17539	0.5079		0.6064	False		,,,				2504	0.684				p.P81P		.											.	FGD3-228	0			c.C243A						.	A	,	2407,1537		734,939,299	22	28	26		243,243	-9	0.5	9	dbSNP_107	26	4989,3317		1519,1951,683	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	2253,2890,982	AA,AC,CC		39.935,38.9706,39.6245	,	81/726,81/726	95738781	7396,4854	1972	4153	6125	SO:0001819	synonymous_variant	89846	exon3			CAGTCCCTCCTCC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.243C>A	9.37:g.95738781C>A		Somatic	108	2		WXS	Illumina GAIIx	Phase_I	168	6	NM_001083536	0	0	0	0	0	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																			C|0.385;A|0.615		0.647	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		A	95738781	C	A	95738781	2	1	45	1	0	0	0	0	0	0	0	1	5856	668	24	3		3	FGD3	9	95738781	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	5204589	95738781	45474650	48	9674											
PTPDC1	138639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	96846961	96846961	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggctccggctctgccacgaAgctgctgtcctcgtcctctc	11	17	2	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:96846961A>T	ENST00000375360.3	+	3	422				PTPDC1_ENST00000288976.3_Missense_Mutation_p.K50M	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGCCACGAAGCTGCTGTCC	0.617																																					p.K50M		.											.	PTPDC1-227	0			c.A149T						.						57	53	54					9																	96846961		2203	4300	6503	SO:0001627	intron_variant	138639	exon1			CCACGAAGCTGCT	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.83-572A>T	9.37:g.96846961A>T		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	124	18	NM_152422	0	0	0	0	0	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.058080	0.36277	.	.	ENSG00000158079	ENST00000288976	T	0.13196	2.61	5.97	2.34	0.29019	.	0.714168	0.12673	N	0.448632	T	0.15696	0.0378	N	0.22421	0.69	0.09310	N	1	D;D	0.61080	0.98;0.989	P;P	0.53593	0.541;0.73	T	0.15521	-1.0434	10	0.54805	T	0.06	-0.2566	9.5369	0.39229	0.8083:0.0:0.1917:0.0	.	50;50	E7EN59;A2A3K4-2	.;.	M	50	ENSP00000288976:K50M	ENSP00000288976:K50M	K	+	2	0	PTPDC1	95886782	0.997000	0.39634	0.000000	0.03702	0.600000	0.36913	4.250000	0.58772	0.150000	0.19136	0.482000	0.46254	AAG	.		0.617	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		T	96846961	A	T	96846961	1	4	45	0	1	0	0	0	0	0	0	0	12816	72	3	5		5	PTPDC1	9	96846961	Intron	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	1108180	96846961	44366470	49	9675											
LHX3	8022	hgsc.bcm.edu	37	chr9	139096812	139096812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgcagacggcggcgGccccgggcctcgctcggtcg	17	16	0	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr9:139096812G>A	ENST00000371748.5	-	1	143	c.47C>T	c.(46-48)gCc>gTc	p.A16V	LHX3_ENST00000371746.3_5'Flank	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	16					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GACGGCGGCGGCCCCGGGCCT	0.726																																					p.A16V		.											.	LHX3-91	0			c.C47T						.						10	12	11					9																	139096812		2160	4227	6387	SO:0001583	missense	8022	exon1			GCGGCGGCCCCGG	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.47C>T	9.37:g.139096812G>A	ENSP00000360813:p.Ala16Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	42	33	NM_178138	0	0	0	0	0	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	9.569	1.120548	0.20877	.	.	ENSG00000107187	ENST00000371748	D	0.88354	-2.37	2.48	1.57	0.23409	.	.	.	.	.	T	0.77198	0.4095	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61850	-0.6978	9	0.27785	T	0.31	.	4.6055	0.12376	0.3128:0.0:0.6872:0.0	.	16	Q9UBR4	LHX3_HUMAN	V	16	ENSP00000360813:A16V	ENSP00000360813:A16V	A	-	2	0	LHX3	138236633	0.000000	0.05858	0.012000	0.15200	0.025000	0.11179	-0.132000	0.10467	0.610000	0.30035	0.484000	0.47621	GCC	.		0.726	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			A	139096812	G	A	139096812	3	1	45	1	0	0	0	0	1	0	0	0	8801	1203	42	3	1268	3	LHX3	9	139096812	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	42249851	139096812	2116619	50	9676											
ECHDC3	79746	bcgsc.ca	37	chr10	11805249	11805249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatgctctttactggTgagcccatttctgcccagga	11	10	2	2	rs61739577	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:11805249T>C	ENST00000379215.4	+	5	829	c.618T>C	c.(616-618)ggT>ggC	p.G206G	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	206						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						TCTTTACTGGTGAGCCCATTT	0.642													C|||	734	0.146565	0.1831	0.1556	5008	,	,		18562	0.0139		0.2256	False		,,,				2504	0.1462				p.G206G		.											.	ECHDC3-90	0			c.T618C						.	C		834,3572	746.1+/-411.7	80,674,1449	75	60	65		618	2.6	1	10	dbSNP_129	65	2084,6516	716.1+/-406.1	280,1524,2496	no	coding-synonymous	ECHDC3	NM_024693.4		360,2198,3945	CC,CT,TT		24.2326,18.9287,22.4358		206/304	11805249	2918,10088	2203	4300	6503	SO:0001819	synonymous_variant	79746	exon5			TACTGGTGAGCCC	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.618T>C	10.37:g.11805249T>C		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_024693	0	1	31	32	0	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																			T|0.807;C|0.193		0.642	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		C	11805249	T	C	11805249	2	2	45	1	0	0	0	0	0	0	0	1	4909	1683	59	4		4	ECHDC3	10	11805249	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10		11805249	123729498	51	9677											
C10orf47	254427	hgsc.bcm.edu	37	chr10	11912144	11912144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcttcccaagtgcgcaCgaggccctgaagagcgcacc	12	15	0	2	rs17851505	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:11912144C>T	ENST00000277570.5	+	4	1201	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_Silent_p.H153H|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	349																	CAAGTGCGCACGAGGCCCTGA	0.766													C|||	360	0.071885	0.0923	0.049	5008	,	,		5950	0.001		0.0805	False		,,,				2504	0.1247				p.H349H		.											.	.	0			c.C1047T						.	C		209,2543		3,203,1170	2	3	2		1047	-2.8	0.7	10	dbSNP_123	2	285,5043		6,273,2385	no	coding-synonymous	C10orf47	NM_153256.3		9,476,3555	TT,TC,CC		5.3491,7.5945,6.1139		349/436	11912144	494,7586	1376	2664	4040	SO:0001819	synonymous_variant	254427	exon4			TGCGCACGAGGCC	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1047C>T	10.37:g.11912144C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_153256	0	0	0	0	0	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	CCDS7085.1																																																																																			C|0.932;T|0.068		0.766	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		T	11912144	C	T	11912144	2	4	45	1	0	0	0	0	0	0	0	1	1610	535	19	1		1	C10orf47	10	11912144	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	106895	11912144	123622603	52	9678											
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96163039	96163039	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgactcgggggacagcccCgccagcagctgcagcagtag	15	14	0	0	rs2477534	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2	3	3		669	-2	0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96163039	C	G	96163039	2	3	45	1	0	0	0	0	0	0	0	1	15648	639	23	2		2	TBC1D12	10	96163039	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	84250895	96163039	39371708	53	9679											
PIK3AP1	118788	bcgsc.ca	37	chr10	98380277	98380277	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaaagggtcatatatactCgactggggcctgtccctcca	10	12	1	0	rs3748234	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:98380277C>T	ENST00000339364.5	-	12	1892	c.1773G>A	c.(1771-1773)tcG>tcA	p.S591S	PIK3AP1_ENST00000371109.3_Silent_p.S190S|RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371110.2_Silent_p.S413S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	591					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CATATATACTCGACTGGGGCC	0.582													C|||	2871	0.573283	0.3177	0.5058	5008	,	,		18553	0.8234		0.5994	False		,,,				2504	0.682				p.S591S		.											.	PIK3AP1-519	0			c.G1773A						.	C		1531,2875	483.3+/-359.7	280,971,952	60	56	57		1773	-11.8	0	10	dbSNP_107	57	5358,3242	649.9+/-400.7	1685,1988,627	no	coding-synonymous	PIK3AP1	NM_152309.2		1965,2959,1579	TT,TC,CC		37.6977,34.7481,47.0321		591/806	98380277	6889,6117	2203	4300	6503	SO:0001819	synonymous_variant	118788	exon12			TATACTCGACTGG	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1773G>A	10.37:g.98380277C>T		Somatic	128	1		WXS	Illumina GAIIx	Phase_I	113	5	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																			C|0.452;T|0.548		0.582	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		T	98380277	C	T	98380277	2	4	45	1	0	0	0	0	0	0	0	1	11947	871	31	1		1	PIK3AP1	10	98380277	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	2217238	98380277	37154470	54	9680											
RRP12	23223	bcgsc.ca	37	chr10	99160152	99160152	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggccactcaggaaggtAcccgaggacttctcggtgag	14	10	2	1	rs1048442	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:99160152A>G	ENST00000370992.4	-	2	390	c.279T>C	c.(277-279)ggT>ggC	p.G93G	RRP12_ENST00000414986.1_Silent_p.G93G|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_Silent_p.G93G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	93						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCAGGAAGGTACCCGAGGACT	0.597													G|||	2006	0.400559	0.5378	0.3444	5008	,	,		18936	0.3125		0.336	False		,,,				2504	0.4121				p.G93G		.											.	RRP12-92	0			c.T279C						.	G	,	2190,2216	589.6+/-387.2	554,1082,567	127	123	125		279,279	1.5	0.1	10	dbSNP_86	125	2722,5878	681.7+/-403.7	430,1862,2008	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	984,2944,2575	GG,GA,AA		31.6512,49.7049,37.7672	,	93/1237,93/1298	99160152	4912,8094	2203	4300	6503	SO:0001819	synonymous_variant	23223	exon2			GAAGGTACCCGAG		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.279T>C	10.37:g.99160152A>G		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	115	7	NM_001145114	0	0	1	1	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			A|0.622;G|0.378		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		G	99160152	A	G	99160152	2	3	45	1	0	0	0	0	0	0	0	1	13731	378	14	4		4	RRP12	10	99160152	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	779875	99160152	36374595	55	9681											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001077494	0	0	0	1	1	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	45	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	4999044	104159196	31375551	56	9682											
LHPP	64077	hgsc.bcm.edu	37	chr10	126150523	126150523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcgcgggcggcggcaCggccatcgccggctcggtgg	20	15	0	0	rs75426652	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:126150523C>A	ENST00000368842.5	+	1	120	c.92C>A	c.(91-93)aCg>aAg	p.T31K	LHPP_ENST00000368839.1_Missense_Mutation_p.T31K|LHPP_ENST00000392757.4_Missense_Mutation_p.T31K	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	31					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		GGCGGCGGCACGGCCATCGCC	0.771													C|||	497	0.0992412	0.3427	0.0288	5008	,	,		7758	0.0109		0.0119	False		,,,				2504	0.001				p.T31K	GBM(165;1980 2715 15999 18454)	.											.	LHPP-90	0			c.C92A						.	C	LYS/THR,LYS/THR	756,2764		49,658,1053	5	5	5		92,92	-8.6	0	10	dbSNP_131	5	60,6906		1,58,3424	no	missense,missense	LHPP	NM_001167880.1,NM_022126.3	78,78	50,716,4477	AA,AC,CC		0.8613,21.4773,7.7818	benign,benign	31/211,31/271	126150523	816,9670	1760	3483	5243	SO:0001583	missense	64077	exon1			GCGGCACGGCCAT	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.92C>A	10.37:g.126150523C>A	ENSP00000357835:p.Thr31Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_022126	0	0	0	2	2	B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	CCDS7640.1	176	0.08058608058608059	156	0.3170731707317073	10	0.027624309392265192	3	0.005244755244755245	7	0.009234828496042216	C	4.235	0.042626	0.08196	0.214773	0.008613	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.26810	1.71;1.71;1.71	4.3	-8.6	0.00889	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	2.588180	0.01329	N	0.011196	T	0.00012	0.0000	N	0.17838	0.53	0.80722	P	0.0	B;B;B	0.15719	0.014;0.01;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.26849	-1.0091	9	0.07813	T	0.8	0.4261	4.7267	0.12945	0.0882:0.123:0.2632:0.5256	.	31;31;31	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	K	31	ENSP00000376512:T31K;ENSP00000357835:T31K;ENSP00000357832:T31K	ENSP00000357832:T31K	T	+	2	0	LHPP	126140513	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-1.087000	0.03383	-2.575000	0.00465	-0.300000	0.09419	ACG	C|0.919;A|0.081		0.771	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		A	126150523	C	A	126150523	3	1	45	1	0	0	0	0	1	0	0	0	8798	536	19	2	94	2	LHPP	10	126150523	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	21991327	126150523	9384224	57	9683											
CTBP2	1488	bcgsc.ca	37	chr10	126678148	126678148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggttgggagagggcGcttgggaaggatgtgccact	20	6	0	1	rs146419230		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:126678148G>T	ENST00000337195.5	-	11	1676	c.1277C>A	c.(1276-1278)gCg>gAg	p.A426E	CTBP2_ENST00000531469.1_Missense_Mutation_p.A426E|CTBP2_ENST00000411419.2_Missense_Mutation_p.A426E|CTBP2_ENST00000494626.2_Missense_Mutation_p.A426E|CTBP2_ENST00000309035.6_Missense_Mutation_p.A966E|CTBP2_ENST00000334808.6_Missense_Mutation_p.A494E	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	426					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.A966G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGAGAGGGCGCTTGGGAAGG	0.572																																					p.A966E		.											.	CTBP2-90	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C2897A						.						72	72	72					10																	126678148		2203	4300	6503	SO:0001583	missense	1488	exon9			GAGGGCGCTTGGG	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1277C>A	10.37:g.126678148G>T	ENSP00000338615:p.Ala426Glu	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_022802	0	0	20	20	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424326	0.83667	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.85013	-1.79;-1.93;-1.93;-1.79;-1.79;-1.79	5.12	5.12	0.69794	.	0.252302	0.39341	N	0.001392	D	0.89619	0.6767	L	0.39898	1.24	0.58432	D	0.999999	D;D;P	0.89917	0.982;1.0;0.802	P;D;P	0.79108	0.895;0.992;0.666	D	0.90542	0.4503	10	0.87932	D	0	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	426;966;494	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	E	426;966;494;426;426;426	ENSP00000338615:A426E;ENSP00000311825:A966E;ENSP00000357816:A494E;ENSP00000434630:A426E;ENSP00000436285:A426E;ENSP00000410474:A426E	ENSP00000311825:A966E	A	-	2	0	CTBP2	126668138	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.168000	0.94781	2.665000	0.90641	0.650000	0.86243	GCG	.		0.572	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		T	126678148	G	T	126678148	3	4	45	1	0	0	0	0	1	0	0	0	4007	1087	38	2	64	2	CTBP2	10	126678148	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	527625	126678148	8856599	58	9684											
FANK1	92565	hgsc.bcm.edu	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	16	13	0	1	rs202109621		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X		.											.	FANK1-91	0			c.C10T						.						8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_145235	0	0	0	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG	.		0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		T	127585221	C	T	127585221	4	4	45	1	0	0	0	0	0	1	0	0	5694	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	907073	127585221	7949526	59	9685											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219045	134219045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagcgagcacgagccCgtgtaccgggccgagctggt	18	12	0	0	rs11146364	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16	21	20		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001098637	0	0	1	1	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219045	C	T	134219045	2	4	45	1	0	0	0	0	0	0	0	1	12891	639	23	1		1	PWWP2B	10	134219045	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	6633824	134219045	1315702	60	9686											
MUC5B	727897	bcgsc.ca	37	chr11	1264691	1264691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccccagtgccgaacaccaTggccaccacacacgggcgat	9	18	0	0	rs2943502	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:1264691T>C	ENST00000529681.1	+	31	6639	c.6581T>C	c.(6580-6582)aTg>aCg	p.M2194T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.M2197T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2194	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		M -> T (in dbSNP:rs2943502). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAACACCATGGCCACCACA	0.672													t|||	4060	0.810703	0.9448	0.7853	5008	,	,		8825	0.9593		0.5984	False		,,,				2504	0.7127				p.M2194T		.											.	.	0			c.T6581C						.	C	THR/MET	3120,586		1478,164,211	25	58	48		6581	-4.5	0	11	dbSNP_101	48	3886,4072		1639,608,1732	no	missense	MUC5B	NM_002458.2	81	3117,772,1943	CC,CT,TT		48.8314,15.8122,39.9348	benign	2194/5763	1264691	7006,4658	1853	3979	5832	SO:0001583	missense	727897	exon31			ACACCATGGCCAC	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.6581T>C	11.37:g.1264691T>C	ENSP00000436812:p.Met2194Thr	Somatic	136	3		WXS	Illumina GAIIx	Phase_I	263	55	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1357	0.6213369963369964	333	0.676829268292683	219	0.6049723756906077	469	0.8199300699300699	336	0.44327176781002636	t	0.103	-1.149913	0.01714	0.841878	0.488314	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	2.24	-4.47	0.03525	.	.	.	.	.	T	0.00012	0.0000	N	0.01297	-0.9	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	8	0.87932	D	0	.	2.4981	0.04627	0.122:0.2666:0.1215:0.4899	rs2943502;rs61184360	2832;2197	A7Y9J9;E9PBJ0	.;.	T	2194;2197;2195;2209	ENSP00000436812:M2194T;ENSP00000415793:M2197T	ENSP00000343037:M2195T	M	+	2	0	MUC5B	1221267	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.878000	0.00344	-2.697000	0.00400	-2.840000	0.00105	ATG	T|0.408;C|0.592		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1264691	T	C	1264691	3	2	45	1	0	0	0	0	1	0	0	0	10017	1464	51	4	6712	4	MUC5B	11	1264691	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10		1264691	133741825	61	9687											
KRTAP5-4	387267	hgsc.bcm.edu;bcgsc.ca	37	chr11	1643258	1643258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccagagccacagccCccacagccggagccacagcc	9	21	0	1	rs28696103		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:1643258C>T	ENST00000399682.1	-	1	110	c.66G>A	c.(64-66)ggG>ggA	p.G22G		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	0.687																																					p.G22G		.											.	.	0			c.G66A						.						5	8	7					11																	1643258		651	1535	2186	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.66G>A	11.37:g.1643258C>T		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	245	25	NM_001012709	0	0	0	0	0		Silent	SNP	ENST00000399682.1	37																																																																																				.		0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		T	1643258	C	T	1643258	2	4	45	1	0	0	0	0	0	0	0	1	8591	610	22	3		3	KRTAP5-4	11	1643258	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	378567	1643258	133363258	62	9688											
OR52B6	340980	bcgsc.ca	37	chr11	5602438	5602438	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggctaggttatagccTcatttcctttgatggctgcc	10	9	1	1	rs541562623|rs2341432	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:5602438T>A	ENST00000345043.2	+	1	332	c.332T>A	c.(331-333)cTc>cAc	p.L111H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	111			L -> H (in dbSNP:rs2341432).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTATAGCCTCATTTCCTTT	0.502														3581	0.715056	0.7352	0.67	5008	,	,		23317	0.9802		0.4761	False		,,,				2504	0.6922				p.L111H		.											.	OR52B6-69	0			c.T332A						.	A	HIS/LEU	3064,1328	394.9+/-329.4	1077,910,209	109	110	109		332	2.7	0	11	dbSNP_100	109	4023,4567	578.8+/-390.8	936,2151,1208	yes	missense	OR52B6	NM_001005162.2	99	2013,3061,1417	AA,AT,TT		46.8335,30.2368,45.409	benign	111/336	5602438	7087,5895	2196	4295	6491	SO:0001583	missense	340980	exon1			ATAGCCTCATTTC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.332T>A	11.37:g.5602438T>A	ENSP00000341581:p.Leu111His	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	203	8	NM_001005162	0	0	0	0	0	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	1483	0.6790293040293041	348	0.7073170731707317	227	0.6270718232044199	553	0.9667832167832168	355	0.4683377308707124	A	3.783	-0.045281	0.07452	0.697632	0.468335	ENSG00000187747	ENST00000345043	T	0.00554	6.64	5.15	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.686748	0.11712	N	0.536805	T	0.00012	0.0000	N	0.10707	0.03	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38265	-0.9669	9	0.41790	T	0.15	.	5.9086	0.19014	0.5833:0.1517:0.0:0.265	rs2341432;rs16933200;rs52836118;rs60418242;rs2341432	111	Q8NGF0	O52B6_HUMAN	H	111	ENSP00000341581:L111H	ENSP00000341581:L111H	L	+	2	0	OR52B6	5559014	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.473000	0.22132	0.400000	0.25396	-0.265000	0.10407	CTC	T|0.358;A|0.642		0.502	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		A	5602438	T	A	5602438	3	1	45	1	0	0	0	0	1	0	0	0	11152	1551	54	5	334	5	OR52B6	11	5602438	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	3959180	5602438	129404078	63	9689											
HNRNPUL2	221092	hgsc.bcm.edu	37	chr11	62494434	62494434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggccgccgcccgacgcGgccacaggccgaggctccgc	15	21	0	0	rs376882579		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:62494434G>A	ENST00000301785.5	-	1	387	c.195C>T	c.(193-195)gcC>gcT	p.A65A	TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank|TTC9C_ENST00000316461.4_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.A65A	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	65						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						CGCCCGACGCGGCCACAGGCC	0.776													G|||	1	0.000199681	0	0	5008	,	,		7037	0		0	False		,,,				2504	0.001				p.A65A		.											.	HNRNPUL2-22	0			c.C195T						.	G		0,2750		0,0,1375	2	2	2		195	2	1	11		2	6,6300		0,6,3147	no	coding-synonymous	HNRNPUL2	NM_001079559.2		0,6,4522	AA,AG,GG		0.0951,0.0,0.0663		65/748	62494434	6,9050	1375	3153	4528	SO:0001819	synonymous_variant	221092	exon1			CGACGCGGCCACA		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.195C>T	11.37:g.62494434G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001079559	0	0	0	0	0	Q8N3B3	Silent	SNP	ENST00000301785.5	37	CCDS41659.1																																																																																			.		0.776	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		A	62494434	G	A	62494434	2	1	45	1	0	0	0	0	0	0	0	1	7302	1103	39	1		1	HNRNPUL2	11	62494434	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	56891996	62494434	72512082	64	9690											
VEGFB	7423	hgsc.bcm.edu	37	chr11	64005029	64005029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctgcacccagcaccaCcagcgccctgacccccggac	8	23	0	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:64005029C>T	ENST00000309422.2	+	6	844	c.548C>T	c.(547-549)aCc>aTc	p.T183I	VEGFB_ENST00000426086.2_Silent_p.H149H	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	183					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	CCCAGCACCACCAGCGCCCTG	0.711																																					p.T183I		.											.	VEGFB-90	0			c.C548T						.						12	13	13					11																	64005029		2190	4279	6469	SO:0001583	missense	7423	exon6			GCACCACCAGCGC	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.548C>T	11.37:g.64005029C>T	ENSP00000311127:p.Thr183Ile	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	21	17	NM_003377	0	0	19	223	204	Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	CCDS8062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.862000|1.862000	0.32884|0.32884	.|.	.|.	ENSG00000173511|ENSG00000173511	ENST00000541681|ENST00000309422	.|.	.|.	.|.	4.86|4.86	1.74|1.74	0.24563|0.24563	.|.	.|12.022600	.|0.00166	.|N	.|0.000001	T|T	0.31670|0.31670	0.0804|0.0804	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.57004|0.57004	-0.7885|-0.7885	5|9	.|0.56958	.|D	.|0.05	-0.6824|-0.6824	1.0218|1.0218	0.01520|0.01520	0.1831:0.4271:0.1776:0.2121|0.1831:0.4271:0.1776:0.2121	.|.	.|183	.|P49765	.|VEGFB_HUMAN	S|I	8|183	.|.	.|ENSP00000311127:T183I	P|T	+|+	1|2	0|0	VEGFB|VEGFB	63761605|63761605	0.889000|0.889000	0.30405|0.30405	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	0.173000|0.173000	0.16724|0.16724	1.170000|1.170000	0.42753|0.42753	0.561000|0.561000	0.74099|0.74099	CCA|ACC	.		0.711	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377		T	64005029	C	T	64005029	3	4	45	1	0	0	0	0	1	0	0	0	17200	507	18	3	570	3	VEGFB	11	64005029	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	1510595	64005029	71001487	65	9691											
ZDHHC24	254359	bcgsc.ca	37	chr11	66307025	66307025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgtgtcccacatctGctgtggtctggaaggtgatc	14	9	2	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:66307025G>T	ENST00000310442.3	-	3	1064	c.830C>A	c.(829-831)gCa>gAa	p.A277E	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	277						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TCCCACATCTGCTGTGGTCTG	0.652																																					p.A277E		.											.	ZDHHC24-68	0			c.C830A						.						33	33	33					11																	66307025		2200	4295	6495	SO:0001583	missense	254359	exon3			ACATCTGCTGTGG	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.830C>A	11.37:g.66307025G>T	ENSP00000309429:p.Ala277Glu	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	59	4	NM_207340	0	0	46	46	0	Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050229	0.36181	.	.	ENSG00000174165	ENST00000310442	T	0.41065	1.01	4.43	1.32	0.21799	.	0.486350	0.19768	N	0.106507	T	0.10337	0.0253	N	0.00841	-1.15	0.09310	N	1	B	0.20671	0.047	B	0.14578	0.011	T	0.38693	-0.9649	10	0.02654	T	1	-1.2507	7.2081	0.25919	0.0:0.3525:0.4664:0.1811	.	277	Q6UX98	ZDH24_HUMAN	E	277	ENSP00000309429:A277E	ENSP00000309429:A277E	A	-	2	0	ZDHHC24	66063601	.	.	0.005000	0.12908	0.304000	0.27724	.	.	1.035000	0.39972	0.491000	0.48974	GCA	.		0.652	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		T	66307025	G	T	66307025	3	4	45	1	0	0	0	0	1	0	0	0	17663	1319	46	3	28	3	ZDHHC24	11	66307025	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	2301996	66307025	68699491	66	9692											
PC	5091	broad.mit.edu	37	chr11	66631380	66631380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacggctccttggaaggcGgaagcattatccaggcggat	14	9	0	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:66631380G>A	ENST00000393958.2	-	11	1326	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	PC_ENST00000355677.3_Silent_p.S411S|PC_ENST00000393955.2_Silent_p.S411S|PC_ENST00000524491.1_Silent_p.S371S|PC_ENST00000393960.1_Silent_p.S411S	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	411	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)	CTTGGAAGGCGGAAGCATTAT	0.617																																					p.S411S		.											.	PC-228	0			c.C1233T						.						165	146	153					11																	66631380		2200	4295	6495	SO:0001819	synonymous_variant	5091	exon11			GAAGGCGGAAGCA	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.1233C>T	11.37:g.66631380G>A		Somatic	100	1		WXS	Illumina GAIIx	Phase_I	158	5	NM_000920	0	0	9	9	0	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																			.		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		A	66631380	G	A	66631380	2	1	45	1	0	0	0	0	0	0	0	1	11536	1103	39	1		1	PC	11	66631380	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	324355	66631380	68375136	67	9693											
RSF1	51773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	77412599	77412599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatggtacacgactcggTggaagataaagcagtttttg	11	6	1	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:77412599T>C	ENST00000308488.6	-	6	1977	c.1675A>G	c.(1675-1677)Acc>Gcc	p.T559A	RSF1_ENST00000480887.1_Missense_Mutation_p.T307A|RSF1_ENST00000360355.2_Missense_Mutation_p.T528A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	559					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CACGACTCGGTGGAAGATAAA	0.413																																					p.T559A		.											.	RSF1-93	0			c.A1675G						.						186	190	189					11																	77412599		2200	4292	6492	SO:0001583	missense	51773	exon6			ACTCGGTGGAAGA	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1675A>G	11.37:g.77412599T>C	ENSP00000311513:p.Thr559Ala	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	69	28	NM_016578	0	0	2	5	3	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	6.060	0.379460	0.11466	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86164	-2.01;-2.03;-2.01;-2.08;1.35	5.23	-3.01	0.05463	.	0.459334	0.20635	N	0.088517	T	0.74405	0.3712	L	0.34521	1.04	0.28571	N	0.910623	B	0.02656	0.0	B	0.01281	0.0	T	0.58211	-0.7676	10	0.22109	T	0.4	0.0481	7.7869	0.29097	0.0:0.4822:0.1415:0.3763	.	559	Q96T23	RSF1_HUMAN	A	559;307;528;360;558	ENSP00000311513:T559A;ENSP00000434509:T307A;ENSP00000353511:T528A;ENSP00000432022:T360A;ENSP00000436408:T558A	ENSP00000311513:T559A	T	-	1	0	RSF1	77090247	0.006000	0.16342	0.552000	0.28243	0.270000	0.26580	-0.434000	0.06939	-0.741000	0.04797	0.533000	0.62120	ACC	.		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77412599	T	C	77412599	3	2	45	1	0	0	0	0	1	0	0	0	13744	1696	59	4	2694	4	RSF1	11	77412599	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	10781219	77412599	57593917	68	9694											
FAM181B	220382	hgsc.bcm.edu	37	chr11	82443754	82443754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtcaagccgccgcgggGggcagtcagggggctctttt	17	11	3	0	rs147683846	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:82443754G>A	ENST00000329203.3	-	1	1152	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	340	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CCGCCGCGGGGGGCAGTCAGG	0.697													G|||	39	0.00778754	0.0015	0.0043	5008	,	,		11170	0.0238		0.007	False		,,,				2504	0.0031				p.P340S		.											.	FAM181B-135	0			c.C1018T						.	G	SER/PRO	1,1743		0,1,871	1	1	1		1018	-4.4	0	11	dbSNP_134	1	38,4482		0,38,2222	yes	missense	FAM181B	NM_175885.3	74	0,39,3093	AA,AG,GG		0.8407,0.0573,0.6226	possibly-damaging	340/427	82443754	39,6225	872	2260	3132	SO:0001583	missense	220382	exon1			CGCGGGGGGCAGT	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1018C>T	11.37:g.82443754G>A	ENSP00000365295:p.Pro340Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_175885	0	0	1	2	1	B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	CCDS31648.1	39	0.017857142857142856	12	0.024390243902439025	3	0.008287292817679558	17	0.02972027972027972	7	0.009234828496042216	G	4.247	0.044790	0.08196	5.73E-4	0.008407	ENSG00000182103	ENST00000329203	T	0.29397	1.57	5.27	-4.36	0.03645	.	0.754197	0.11109	N	0.598752	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.25187	-1.0139	9	.	.	.	.	2.0392	0.03546	0.1466:0.2205:0.3614:0.2715	.	340	A6NEQ2	F181B_HUMAN	S	340	ENSP00000365295:P340S	.	P	-	1	0	FAM181B	82121402	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.239000	0.08965	-0.564000	0.06070	0.561000	0.74099	CCC	G|0.982;A|0.018		0.697	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		A	82443754	G	A	82443754	3	1	45	1	0	0	0	0	1	0	0	0	5528	1232	43	3	266	3	FAM181B	11	82443754	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	5031155	82443754	52562762	69	9695											
TMPRSS5	80975	bcgsc.ca	37	chr11	113570385	113570385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcactgcacagccacgtCgcatggaacgccagcacact	9	17	0	0	rs11601425	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr11:113570385C>T	ENST00000299882.5	-	3	285	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	TMPRSS5_ENST00000538955.1_Missense_Mutation_p.R2Q|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.R37Q|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.R46Q|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.R2Q	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	46			R -> Q (in dbSNP:rs11601425). {ECO:0000269|PubMed:17918732}.		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ACAGCCACGTCGCATGGAACG	0.632													c|||	210	0.0419329	0.0061	0.0764	5008	,	,		16592	0.001		0.0905	False		,,,				2504	0.0583				p.R46Q		.											.	TMPRSS5-1	0			c.G137A						.		GLN/ARG	93,4151		2,89,2031	18	25	23		137	3.1	0.4	11	dbSNP_120	23	919,7551		52,815,3368	yes	missense	TMPRSS5	NM_030770.2	43	54,904,5399	TT,TC,CC		10.8501,2.1913,7.9597	benign	46/458	113570385	1012,11702	2122	4235	6357	SO:0001583	missense	80975	exon3			CCACGTCGCATGG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.137G>A	11.37:g.113570385C>T	ENSP00000299882:p.Arg46Gln	Somatic	210	2		WXS	Illumina GAIIx	Phase_I	316	9	NM_030770	0	0	0	0	0		Missense_Mutation	SNP	ENST00000299882.5	37	CCDS44735.1	107	0.04899267399267399	6	0.012195121951219513	27	0.07458563535911603	0	0.0	74	0.09762532981530343	c	16.55	3.155673	0.57259	0.021913	0.108501	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D	0.88896	-2.44;-2.44;-2.37;-2.42;-2.43	4.02	3.09	0.35607	.	0.350692	0.23859	N	0.043867	T	0.05273	0.0140	N	0.17082	0.46	0.20489	N	0.999895	B;B;B	0.31318	0.201;0.319;0.005	B;B;B	0.17433	0.012;0.018;0.002	T	0.15292	-1.0442	10	0.38643	T	0.18	.	6.9714	0.24650	0.0:0.8679:0.0:0.1321	rs11601425;rs17533506;rs52821493;rs11601425	46;37;46	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	Q	46;37;2;46;2	ENSP00000299882:R46Q;ENSP00000441104:R37Q;ENSP00000445528:R2Q;ENSP00000440783:R46Q;ENSP00000445930:R2Q	ENSP00000299882:R46Q	R	-	2	0	TMPRSS5	113075595	0.000000	0.05858	0.354000	0.25760	0.035000	0.12851	-0.348000	0.07740	1.001000	0.39076	0.450000	0.29827	CGA	C|0.946;T|0.054		0.632	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		T	113570385	C	T	113570385	3	4	45	1	0	0	0	0	1	0	0	0	16297	884	31	1	1280	1	TMPRSS5	11	113570385	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	31126631	113570385	21436131	70	9696											
TAPBPL	55080	bcgsc.ca	37	chr12	6562823	6562823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtcaccaagaatgaggCgctctggcacccgacgctga	13	13	2	3	rs2041387	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6562823C>T	ENST00000266556.7	+	3	671	c.506C>T	c.(505-507)gCg>gTg	p.A169V	TAPBPL_ENST00000544021.1_Missense_Mutation_p.A92V|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000545700.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	169			A -> V (in dbSNP:rs2041387). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						AAGAATGAGGCGCTCTGGCAC	0.572													C|||	1293	0.258187	0.1846	0.1744	5008	,	,		18472	0.3224		0.3042	False		,,,				2504	0.3037				p.A169V		.											.	TAPBPL-90	0			c.C506T						.	C	VAL/ALA	825,3581	324.8+/-298.8	84,657,1462	37	35	36		506	4.6	0	12	dbSNP_94	36	2622,5978	419.4+/-353.1	407,1808,2085	yes	missense	TAPBPL	NM_018009.4	64	491,2465,3547	TT,TC,CC		30.4884,18.7245,26.5032	benign	169/469	6562823	3447,9559	2203	4300	6503	SO:0001583	missense	55080	exon3			ATGAGGCGCTCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.506C>T	12.37:g.6562823C>T	ENSP00000266556:p.Ala169Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	136	6	NM_018009	0	0	17	17	0	Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	562	0.2573260073260073	88	0.17886178861788618	63	0.17403314917127072	188	0.32867132867132864	223	0.2941952506596306	C	9.385	1.073965	0.20147	0.187245	0.304884	ENSG00000139192	ENST00000544021;ENST00000266556	T;T	0.48201	0.82;3.02	4.56	4.56	0.56223	.	0.481446	0.23317	N	0.049484	T	0.00012	0.0000	L	0.56769	1.78	0.58432	P	2.9999999999752447E-6	B	0.10296	0.003	B	0.08055	0.003	T	0.25012	-1.0144	9	0.21014	T	0.42	-5.8199	12.8579	0.57897	0.0:1.0:0.0:0.0	rs2041387;rs3168617;rs16932609;rs17196801;rs17845451;rs17858324;rs57407101;rs2041387	169	Q9BX59	TPSNR_HUMAN	V	92;169	ENSP00000445341:A92V;ENSP00000266556:A169V	ENSP00000266556:A169V	A	+	2	0	TAPBPL	6433084	0.179000	0.23135	0.022000	0.16811	0.002000	0.02628	1.069000	0.30641	2.097000	0.63578	0.609000	0.83330	GCG	C|0.744;N|0.000		0.572	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		T	6562823	C	T	6562823	3	4	45	1	0	0	0	0	1	0	0	0	15600	768	27	1	516	1	TAPBPL	12	6562823	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		6562823	127289072	71	9697			1	47		2	2	14	N	G_C	4.997175e-05
TAPBPL	55080	bcgsc.ca	37	chr12	6562836	6562836	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgaggcgctctggcacccGacgctgaacttgccactgag	12	13	1	3	rs2041388	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6562836G>A	ENST00000266556.7	+	3	684	c.519G>A	c.(517-519)ccG>ccA	p.P173P	TAPBPL_ENST00000544021.1_Silent_p.P96P|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000545700.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	173					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCTGGCACCCGACGCTGAACT	0.567													G|||	1016	0.202875	0.0136	0.1599	5008	,	,		18787	0.3224		0.2932	False		,,,				2504	0.273				p.P173P		.											.	TAPBPL-90	0			c.G519A						.	G		249,4157	142.7+/-177.9	8,233,1962	31	30	31		519	-0.2	0	12	dbSNP_94	31	2499,6101	401.6+/-347.2	364,1771,2165	no	coding-synonymous	TAPBPL	NM_018009.4		372,2004,4127	AA,AG,GG		29.0581,5.6514,21.1287		173/469	6562836	2748,10258	2203	4300	6503	SO:0001819	synonymous_variant	55080	exon3			GCACCCGACGCTG	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.519G>A	12.37:g.6562836G>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	124	6	NM_018009	0	0	18	18	0	Q9NWB8	Silent	SNP	ENST00000266556.7	37	CCDS8546.1																																																																																			G|0.800;A|0.200		0.567	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		A	6562836	G	A	6562836	2	1	45	1	0	0	0	0	0	0	0	1	15600	1045	37	1		1	TAPBPL	12	6562836	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	13	6562836	127289059	72	9698			1	47		2	2	14	N	G_C	4.997175e-05
ZNF384	171017	hgsc.bcm.edu	37	chr12	6777075	6777075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtggtggctgttgctgCtgctgctgctgctgctgctg	17	9	0	0	rs1052680		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:6777075C>T	ENST00000396801.3	-	11	1746	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000319770.3_Silent_p.Q436Q|ZNF384_ENST00000396795.1_Silent_p.Q452Q|ZNF384_ENST00000355772.4_Silent_p.Q397Q|ZNF384_ENST00000361959.3_Silent_p.Q513Q|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396799.2_Silent_p.Q452Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	513	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgttgctgctgctgctgct	0.667			T	"EWSR1, TAF15 "	ALL																																p.Q513Q		.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384-1083	0			c.G1539A						.						18	22	21					12																	6777075		2203	4296	6499	SO:0001819	synonymous_variant	171017	exon11			TTGCTGCTGCTGC	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1539G>A	12.37:g.6777075C>T		Somatic	17	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_001135734	0	0	18	18	0	O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	CCDS44817.1																																																																																			C|1.000;|0.000		0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			T	6777075	C	T	6777075	2	4	45	1	0	0	0	0	0	0	0	1	17923	796	28	3		3	ZNF384	12	6777075	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	214239	6777075	127074820	73	9699											
FAM90A1	55138	ucsc.edu	37	chr12	8375048	8375048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgtcttgtgcctggggGctgacggcctggagcaggcc	17	11	1	1	rs17857270	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:8375048G>T	ENST00000538603.1	-	7	1323	c.765C>A	c.(763-765)agC>agA	p.S255R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S255R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	255				VS -> AR (in Ref. 4; AAH42608). {ECO:0000305}.			nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTGCCTGGGGGCTGACGGCCT	0.657													.|||	1062	0.212061	0.056	0.1715	5008	,	,		17570	0.4107		0.175	False		,,,				2504	0.2853				p.S255R		.											.	FAM90A1-91	0			c.C765A						.						29	45	39					12																	8375048		2124	4186	6310	SO:0001583	missense	55138	exon7			CTGGGGGCTGACG	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.765C>A	12.37:g.8375048G>T	ENSP00000445418:p.Ser255Arg	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	77	8	NM_018088	0	0	0	1	1	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	361	0.1652930402930403	28	0.056910569105691054	42	0.11602209944751381	207	0.3618881118881119	84	0.11081794195250659	.	0.131	-1.113878	0.01799	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.10382	2.88;2.88	1.02	-2.04	0.07343	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.47459	-0.9116	8	0.12103	T	0.63	-1.0903	5.004	0.14279	0.0:0.0:0.3874:0.6126	rs17857270	255	Q86YD7	F90A1_HUMAN	R	255	ENSP00000307798:S255R;ENSP00000445418:S255R	ENSP00000307798:S255R	S	-	3	2	FAM90A1	8266315	0.017000	0.18338	0.000000	0.03702	0.036000	0.12997	0.308000	0.19314	-0.634000	0.05538	-1.055000	0.02315	AGC	G|0.859;T|0.141		0.657	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		T	8375048	G	T	8375048	3	4	45	1	0	0	0	0	1	0	0	0	5672	1194	42	3	633	3	FAM90A1	12	8375048	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	1597973	8375048	125476847	74	9700											
KRT83	3889	broad.mit.edu	37	chr12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgggcatcactgaggGccgcctcaccctgctgctca	12	16	3	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597																																					p.A365D	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	.											.	KRT83-91	2	Substitution - Missense(2)	prostate(1)|endometrium(1)	c.C1094A						.						36	36	36					12																	52709845		2203	4299	6502	SO:0001583	missense	3889	exon7			CTGAGGGCCGCCT	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1094C>A	12.37:g.52709845G>T	ENSP00000293670:p.Ala365Asp	Somatic	26	3		WXS	Illumina GAIIx	Phase_I	138	17	NM_002282	0	0	0	0	0	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319489	0.60524	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	3.84	3.84	0.44239	Filament (1);	0.168584	0.27749	U	0.018016	D	0.83830	0.5339	M	0.72894	2.215	0.40384	D	0.97947	D	0.55605	0.972	D	0.64877	0.93	D	0.85501	0.1191	9	.	.	.	.	16.1279	0.81406	0.0:0.0:1.0:0.0	.	365	P78385	KRT83_HUMAN	D	365	ENSP00000293670:A365D	.	A	-	2	0	KRT83	50996112	1.000000	0.71417	0.702000	0.30337	0.425000	0.31504	7.806000	0.86020	1.867000	0.54127	0.563000	0.77884	GCC	.		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		T	52709845	G	T	52709845	3	4	45	1	0	0	0	0	1	0	0	0	8524	1203	42	3	399	3	KRT83	12	52709845	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	44334797	52709845	81142050	75	9701											
BTBD11	121551	hgsc.bcm.edu	37	chr12	107713511	107713511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctgcagtggccctgGgtcaggctcgggctccggcc	17	15	1	0	rs961498	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:107713511G>C	ENST00000280758.5	+	1	1322	c.794G>C	c.(793-795)gGg>gCg	p.G265A	BTBD11_ENST00000490090.2_Missense_Mutation_p.G265A|BTBD11_ENST00000420571.2_Missense_Mutation_p.G265A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	265						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTGGCCCTGGGTCAGGCTCG	0.751													G|||	1975	0.394369	0.2194	0.4539	5008	,	,		9398	0.4127		0.492	False		,,,				2504	0.4693				p.G265A		.											.	BTBD11-93	0			c.G794C						.	G	ALA/GLY	786,2720		135,516,1102	5	3	3		794	4.2	0.1	12	dbSNP_86	3	2882,3822		730,1422,1200	no	missense	BTBD11	NM_001018072.1	60	865,1938,2302	CC,CG,GG		42.9893,22.4187,35.9256	benign	265/1105	107713511	3668,6542	1753	3352	5105	SO:0001583	missense	121551	exon1			GCCCTGGGTCAGG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.794G>C	12.37:g.107713511G>C	ENSP00000280758:p.Gly265Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	899	0.4116300366300366	119	0.241869918699187	158	0.43646408839779005	241	0.42132867132867136	381	0.5026385224274407	G	11.75	1.731449	0.30684	0.224187	0.429893	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.33865	1.39;1.48;1.43	4.15	4.15	0.48705	Histone-fold (1);	0.272599	0.26478	N	0.024144	T	0.00012	0.0000	L	0.52905	1.665	0.09310	P	1.0	B;B;B	0.28971	0.229;0.088;0.143	B;B;B	0.29176	0.099;0.017;0.061	T	0.47898	-0.9081	9	0.54805	T	0.06	.	13.8733	0.63634	0.0:0.0:1.0:0.0	rs961498	265;265;265	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	A	265	ENSP00000280758:G265A;ENSP00000413889:G265A;ENSP00000447319:G265A	ENSP00000280758:G265A	G	+	2	0	BTBD11	106237641	0.973000	0.33851	0.080000	0.20451	0.808000	0.45660	2.685000	0.46959	2.308000	0.77769	0.549000	0.68633	GGG	G|0.588;C|0.412		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		C	107713511	G	C	107713511	3	2	45	1	0	0	0	0	1	0	0	0	1543	1232	43	3	796	3	BTBD11	12	107713511	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	55003666	107713511	26138384	76	9702											
SRRM4	84530	hgsc.bcm.edu	37	chr12	119594512	119594512	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagtccgggctcccgcagccGgagccggagcaggagccgga	17	14	0	0	rs140426282	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:119594512G>C	ENST00000267260.4	+	13	2133	c.1745G>C	c.(1744-1746)cGg>cCg	p.R582P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	582	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCCGCagccggagccggagc	0.716													G|||	37	0.00738818	8e-04	0.0159	5008	,	,		11859	0		0.0219	False		,,,				2504	0.0031				p.R582P		.											.	SRRM4-2	0			c.G1745C						.	G	PRO/ARG	6,3266		0,6,1630	2	4	4		1745	2.5	0.8	12	dbSNP_134	4	67,6959		0,67,3446	no	missense	SRRM4	NM_194286.3	103	0,73,5076	CC,CG,GG		0.9536,0.1834,0.7089	possibly-damaging	582/612	119594512	73,10225	1636	3513	5149	SO:0001583	missense	84530	exon13			GCAGCCGGAGCCG	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1745G>C	12.37:g.119594512G>C	ENSP00000267260:p.Arg582Pro	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	5	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	24	0.01098901098901099	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	16	0.021108179419525065	G	12.44	1.937207	0.34189	0.001834	0.009536	ENSG00000139767	ENST00000267260	T	0.26518	1.73	4.42	2.54	0.30619	.	0.356243	0.18124	U	0.150962	T	0.06554	0.0168	N	0.08118	0	0.21184	N	0.999765	P	0.41214	0.742	B	0.42692	0.395	T	0.11916	-1.0568	9	.	.	.	-1.3819	8.1375	0.31063	0.2624:0.0:0.7376:0.0	.	582	A7MD48	SRRM4_HUMAN	P	582	ENSP00000267260:R582P	.	R	+	2	0	SRRM4	118078895	0.994000	0.37717	0.795000	0.32087	0.902000	0.53008	0.270000	0.18607	0.839000	0.34971	0.650000	0.86243	CGG	G|0.989;C|0.011		0.716	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		C	119594512	G	C	119594512	3	2	45	1	0	0	0	0	1	0	0	0	15218	1116	39	2	1795	2	SRRM4	12	119594512	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	11881001	119594512	14257383	77	9703											
SCARB1	949	hgsc.bcm.edu	37	chr12	125348263	125348263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctttggcggagcagcCcatgtctgcgcgcctggggc	17	14	1	0	rs4238001	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr12:125348263C>T	ENST00000415380.2	-	1	129	c.4G>A	c.(4-6)Ggc>Agc	p.G2S	SCARB1_ENST00000546215.1_Missense_Mutation_p.G2S|SCARB1_ENST00000376788.1_Missense_Mutation_p.G2S|SCARB1_ENST00000261693.6_Missense_Mutation_p.G2S|SCARB1_ENST00000339570.5_Missense_Mutation_p.G2S|SCARB1_ENST00000535005.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	2			G -> S (associated with higher plasma triglyceride concentration in subjects with hypercholesterolemia; dbSNP:rs4238001). {ECO:0000269|PubMed:12519372, ECO:0000269|PubMed:12966036}.		adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCGGAGCAGCCCATGTCTGCG	0.741													C|||	322	0.0642971	0.0666	0.0994	5008	,	,		9316	0.003		0.1163	False		,,,				2504	0.046				p.G2S		.											.	SCARB1-226	0			c.G4A	GRCh37	CM994635	SCARB1	M	rs4238001	.	C	SER/GLY,SER/GLY	221,3989		8,205,1892	10	9	9		4,4	3.2	1	12	dbSNP_111	9	800,7270		43,714,3278	no	missense,missense	SCARB1	NM_001082959.1,NM_005505.4	56,56	51,919,5170	TT,TC,CC		9.9133,5.2494,8.3143	probably-damaging,probably-damaging	2/507,2/510	125348263	1021,11259	2105	4035	6140	SO:0001583	missense	949	exon1			AGCAGCCCATGTC	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.4G>A	12.37:g.125348263C>T	ENSP00000414979:p.Gly2Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_005505	0	0	13	40	27	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		165	0.07554945054945054	44	0.08943089430894309	36	0.09944751381215469	0	0.0	85	0.11213720316622691	C	18.49	3.635365	0.67130	0.052494	0.099133	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000545493	T;T;T;T;T;T	0.78481	-0.07;-0.07;-0.08;-1.18;-0.01;0.18	3.22	3.22	0.36961	.	1.157680	0.06728	U	0.776122	T	0.12518	0.0304	L	0.60455	1.87	0.09310	P	0.9999999999958479	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.986;0.986;0.986;0.994;0.994	T	0.59757	-0.7394	9	0.62326	D	0.03	-23.5156	10.5912	0.45310	0.0:1.0:0.0:0.0	rs4238001	2;2;2;2;2	B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;SCRB1_HUMAN;.;.	S	2	ENSP00000343795:G2S;ENSP00000414979:G2S;ENSP00000261693:G2S;ENSP00000365984:G2S;ENSP00000442862:G2S;ENSP00000443454:G2S	ENSP00000261693:G2S	G	-	1	0	SCARB1	123914216	1.000000	0.71417	0.996000	0.52242	0.247000	0.25773	1.365000	0.34182	1.734000	0.51633	0.185000	0.17295	GGC	C|0.935;T|0.065		0.741	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		T	125348263	C	T	125348263	3	4	45	1	0	0	0	0	1	0	0	0	13926	623	22	3	1697	3	SCARB1	12	125348263	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	5753751	125348263	8503632	78	9704											
MYH6	4624	broad.mit.edu	37	chr14	23862646	23862646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccagggcctgctgatgggCctcttgtagagctttcttct	11	11	3	2	rs143978652	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:23862646C>A	ENST00000356287.3	-	22	3039	c.3010G>T	c.(3010-3012)Gcc>Tcc	p.A1004S	MYH6_ENST00000405093.3_Missense_Mutation_p.A1004S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1004			A -> S (in CMD1EE; dbSNP:rs143978652). {ECO:0000269|PubMed:15998695}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCTGATGGGCCTCTTGTAGA	0.522													C|||	3	0.000599042	0	0.0014	5008	,	,		21523	0		0.002	False		,,,				2504	0				p.A1004S		.											.	MYH6-94	0			c.G3010T	GRCh37	CM052257	MYH6	M	rs143978652	.	C	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	163	155	158		3010	5.1	1	14	dbSNP_134	158	11,8589	8.4+/-32.0	0,11,4289	yes	missense	MYH6	NM_002471.3	99	0,12,6491	AA,AC,CC		0.1279,0.0227,0.0923	benign	1004/1940	23862646	12,12994	2203	4300	6503	SO:0001583	missense	4624	exon23			GATGGGCCTCTTG	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3010G>T	14.37:g.23862646C>A	ENSP00000348634:p.Ala1004Ser	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	192	8	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	16.63	3.177919	0.57692	2.27E-4	0.001279	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82984	-1.67;-1.67	5.12	5.12	0.69794	.	.	.	.	.	T	0.80944	0.4721	L	0.55017	1.72	0.58432	D	0.999993	B	0.17852	0.024	B	0.21546	0.035	T	0.78145	-0.2318	9	0.59425	D	0.04	.	15.3069	0.73998	0.1404:0.8596:0.0:0.0	.	1004	P13533	MYH6_HUMAN	S	1004	ENSP00000386041:A1004S;ENSP00000348634:A1004S	ENSP00000348634:A1004S	A	-	1	0	MYH6	22932486	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.383000	0.44354	2.557000	0.86248	0.650000	0.86243	GCC	C|0.999;A|0.001		0.522	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23862646	C	A	23862646	3	1	45	1	0	0	0	0	1	0	0	0	10076	739	26	3	2877	3	MYH6	14	23862646	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		23862646	83486894	79	9705											
DHRS4	10901	ucsc.edu	37	chr14	24424289	24424289	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccaggacggggcccaTgtggtcgtcagcagccggaa	16	12	1	0	rs1127279	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:24424289T>C	ENST00000313250.5	+	2	377	c.174T>C	c.(172-174)caT>caC	p.H58H	DHRS4_ENST00000397074.3_Silent_p.H58H|DHRS4_ENST00000397075.3_Silent_p.H58H|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397073.2_Silent_p.H40H|DHRS4_ENST00000558581.1_Silent_p.H58H|DHRS4_ENST00000308178.8_Silent_p.H40H|DHRS4_ENST00000421831.1_Silent_p.H40H|DHRS4_ENST00000558263.1_Silent_p.H58H|DHRS4_ENST00000382761.3_Silent_p.H40H|DHRS4_ENST00000559632.1_Silent_p.H58H|DHRS4_ENST00000543741.2_Silent_p.H58H	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	58					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	ACGGGGCCCATGTGGTCGTCA	0.657													.|||	13	0.00259585	8e-04	0	5008	,	,		16143	0.005		0.004	False		,,,				2504	0.0031				p.H58H		.											.	DHRS4-91	0			c.T174C						.						55	62	59					14																	24424289		2203	4299	6502	SO:0001819	synonymous_variant	10901	exon2			GGCCCATGTGGTC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.174T>C	14.37:g.24424289T>C		Somatic	82	3		WXS	Illumina GAIIx	Phase_I	368	110	NM_021004	0	0	46	46	0	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																			.		0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			C	24424289	T	C	24424289	2	2	45	1	0	0	0	0	0	0	0	1	4506	1461	51	4		4	DHRS4	14	24424289	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	561643	24424289	82925251	80	9706											
PLEKHG3	26030	hgsc.bcm.edu	37	chr14	65209970	65209970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgagcagggggcggccGgccccgcggcccacccgtca	16	19	1	0	rs201046500	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr14:65209970G>A	ENST00000394691.1	+	17	3356	c.3209G>A	c.(3208-3210)cGg>cAg	p.R1070Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R575Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R603Q|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R1014Q			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1070							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		gggggcggccggccccgcggc	0.711													G|||	11	0.00219649	0	0.0014	5008	,	,		13440	0		0	False		,,,				2504	0.0102				p.R1014Q		.											.	PLEKHG3-91	0			c.G3041A						.	G	GLN/ARG	0,4332		0,0,2166	13	17	16		3041	2.2	0.9	14		16	6,8440		0,6,4217	no	missense	PLEKHG3	NM_015549.1	43	0,6,6383	AA,AG,GG		0.071,0.0,0.047	benign	1014/1164	65209970	6,12772	2166	4223	6389	SO:0001583	missense	26030	exon15			GCGGCCGGCCCCG	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3209G>A	14.37:g.65209970G>A	ENSP00000378183:p.Arg1070Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	21	10	NM_015549	0	0	0	0	0	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	5.724	0.318080	0.10845	0.0	7.1E-4	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60040	0.66;0.22;1.53;1.53	5.39	2.17	0.27698	.	0.896444	0.09468	N	0.798077	T	0.47875	0.1469	N	0.19112	0.55	0.09310	N	1	D;D;B;B	0.69078	0.997;0.997;0.041;0.04	P;P;B;B	0.54590	0.756;0.756;0.006;0.008	T	0.33904	-0.9850	10	0.13853	T	0.58	.	5.3836	0.16206	0.2558:0.1594:0.5848:0.0	.	603;575;1070;1014	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	1014;1070;603;575	ENSP00000247226:R1014Q;ENSP00000378183:R1070Q;ENSP00000450945:R603Q;ENSP00000450973:R575Q	ENSP00000247226:R1014Q	R	+	2	0	PLEKHG3	64279723	0.018000	0.18449	0.864000	0.33941	0.011000	0.07611	0.657000	0.24963	1.264000	0.44198	-0.150000	0.13652	CGG	G|0.996;A|0.004		0.711	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65209970	G	A	65209970	3	1	45	1	0	0	0	0	1	0	0	0	12109	1116	39	1	3095	1	PLEKHG3	14	65209970	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	40785681	65209970	42139570	81	9707											
MAGEL2	54551	broad.mit.edu	37	chr15	23889708	23889708	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattgttggcacggttgatgAtatctaagcactcatcttta	8	7	3	2	rs398122417		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:23889708A>T	ENST00000532292.1	-	1	1467	c.1373T>A	c.(1372-1374)aTc>aAc	p.I458N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	341	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACGGTTGATGATATCTAAGCA	0.453																																					p.I1061N		.											.	.	0			c.T3182A						.						79	74	76					15																	23889708		1947	4147	6094	SO:0001583	missense	54551	exon1			TTGATGATATCTA	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1373T>A	15.37:g.23889708A>T	ENSP00000433433:p.Ile458Asn	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	164	4	NM_019066	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	A	16.52	3.146487	0.57044	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	T	0.81688	0.4875	H	0.94423	3.535	0.36480	D	0.86781	.	.	.	.	.	.	D	0.88272	0.2930	5	.	.	.	.	10.43	0.44403	1.0:0.0:0.0:0.0	.	.	.	.	T	490	.	.	S	-	1	0	MAGEL2	21440801	0.999000	0.42202	0.968000	0.41197	0.839000	0.47603	2.403000	0.44530	2.032000	0.59987	0.383000	0.25322	TCA	.		0.453	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		T	23889708	A	T	23889708	3	4	45	1	0	0	0	0	1	0	0	0	9227	333	12	5	571	5	MAGEL2	15	23889708	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10		23889708	78641684	82	9708											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	45	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	39524375	63414083	39117309	83	9709											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	45	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	1955312	65369395	37161997	84	9710											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369531	65369531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgttccacagtgccgcGctcttcatctgcgacggcga	12	14	3	0	rs2946642	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:65369531G>T	ENST00000432196.2	+	1	378	c.378G>T	c.(376-378)gcG>gcT	p.A126A	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	126					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						ACAGTGCCGCGCTCTTCATCT	0.716													G|||	2512	0.501597	0.531	0.5403	5008	,	,		9855	0.7302		0.3877	False		,,,				2504	0.316				p.A126A		.											.	.	0			c.G378T						.	G		1399,1573		380,639,467	2	2	2		378	-0.2	1	15	dbSNP_101	2	2035,4139		455,1125,1507	no	coding-synonymous	KBTBD13	NM_001101362.2		835,1764,1974	TT,TG,GG		32.9608,47.0727,37.5465		126/459	65369531	3434,5712	1486	3087	4573	SO:0001819	synonymous_variant	390594	exon1			TGCCGCGCTCTTC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.378G>T	15.37:g.65369531G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001101362	0	0	0	0	0		Silent	SNP	ENST00000432196.2	37	CCDS45281.1																																																																																			G|0.479;T|0.521		0.716	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369531	G	T	65369531	2	4	45	1	0	0	0	0	0	0	0	1	8019	1074	38	2		2	KBTBD13	15	65369531	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	136	65369531	37161861	85	9711											
CHRNB4	1143	bcgsc.ca	37	chr15	78921762	78921762	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaacatgaggtacttgccGatgagaggcacatcgaggga	15	7	0	3	rs3743072	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:78921762G>A	ENST00000261751.3	-	5	996	c.885C>T	c.(883-885)atC>atT	p.I295I	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	295					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGTACTTGCCGATGAGAGGCA	0.567													G|||	275	0.0549121	0.1233	0.0101	5008	,	,		22662	0.0813		0.008	False		,,,				2504	0.0153				p.I295I		.											.	CHRNB4-90	0			c.C885T						.	G		435,3957	210.2+/-230.7	24,387,1785	159	124	136		885	-3.9	0.8	15	dbSNP_107	136	56,8530	35.9+/-90.5	0,56,4237	no	coding-synonymous	CHRNB4	NM_000750.3		24,443,6022	AA,AG,GG		0.6522,9.9044,3.7833		295/499	78921762	491,12487	2196	4293	6489	SO:0001819	synonymous_variant	1143	exon5			CTTGCCGATGAGA	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.885C>T	15.37:g.78921762G>A		Somatic	237	3		WXS	Illumina GAIIx	Phase_I	237	9	NM_000750	0	0	0	0	0	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																			G|0.962;A|0.038		0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			A	78921762	G	A	78921762	2	1	45	1	0	0	0	0	0	0	0	1	3400	1048	37	1		1	CHRNB4	15	78921762	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	13552231	78921762	23609630	86	9712											
ADAMTS7	11173	ucsc.edu	37	chr15	79089111	79089111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaacgctcccgtcgagActccagctctgggtacactg	9	17	1	1	rs3825807	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr15:79089111A>G	ENST00000388820.4	-	4	850	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	214			S -> P (in dbSNP:rs3825807).		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						tcccgtcgAGACTCCAGCTCT	0.657													G|||	1253	0.2502	0.1112	0.2968	5008	,	,		14046	0.1518		0.4274	False		,,,				2504	0.3241				p.S214P		.											.	ADAMTS7-226	0			c.T640C						.	G	PRO/SER	678,3714		57,564,1575	22	21	22	http://www.ncbi.nlm.nih.gov/pubmed?term	640	-9	0	15	dbSNP_107	22	3816,4762		878,2060,1351	yes	missense	ADAMTS7	NM_014272.3	74	935,2624,2926	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	44.4859,15.4372,34.6492	benign	214/1687	79089111	4494,8476	2196	4289	6485	SO:0001583	missense	11173	exon4			GTCGAGACTCCAG	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.640T>C	15.37:g.79089111A>G	ENSP00000373472:p.Ser214Pro	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	50	12	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	584	0.2673992673992674	63	0.12804878048780488	123	0.3397790055248619	77	0.1346153846153846	321	0.4234828496042216	G	12.54	1.968180	0.34754	0.154372	0.444859	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60920	0.15	5.11	-8.98	0.00754	.	0.967066	0.08499	N	0.936716	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.40384	-0.9566	9	0.30078	T	0.28	.	2.7518	0.05283	0.5523:0.0989:0.1616:0.1872	rs3825807;rs57075956;rs3825807	214;214;214	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	P	214	ENSP00000373472:S214P	ENSP00000373472:S214P	S	-	1	0	ADAMTS7	76876166	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.471000	0.02344	-1.596000	0.01611	-1.382000	0.01172	TCT	A|0.704;G|0.296		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79089111	A	G	79089111	3	3	45	1	0	0	0	0	1	0	0	0	271	275	10	4	4504	4	ADAMTS7	15	79089111	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	167349	79089111	23442281	87	9713											
MRPS34	65993	hgsc.bcm.edu	37	chr16	1823054	1823054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcgcggcctgttcagttgctCccgcagggcgcgcacgcggc	16	16	1	0	rs11552432	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:1823054C>G	ENST00000397375.2	-	1	102	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E23Q	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	23						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						TTCAGTTGCTCCCGCAGGGCG	0.741													C|||	53	0.0105831	8e-04	0.013	5008	,	,		11975	0		0.0348	False		,,,				2504	0.0082				p.E23Q		.											.	MRPS34-92	0			c.G67C						.	C	GLN/GLU	11,3021		0,11,1505	2	3	3		67	3.7	1	16	dbSNP_120	3	113,6393		0,113,3140	yes	missense	MRPS34	NM_023936.1	29	0,124,4645	GG,GC,CC		1.7369,0.3628,1.3001	probably-damaging	23/219	1823054	124,9414	1516	3253	4769	SO:0001583	missense	65993	exon1			GTTGCTCCCGCAG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.67G>C	16.37:g.1823054C>G	ENSP00000380531:p.Glu23Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_023936	0	0	3	7	4	Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	CCDS10444.1	30	0.013736263736263736	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	21	0.027704485488126648	C	24.7	4.555305	0.86231	0.003628	0.017369	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.54071	0.59;0.59	3.72	3.72	0.42706	.	0.056147	0.64402	D	0.000002	T	0.42921	0.1224	L	0.58101	1.795	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.63287	-0.6671	10	0.66056	D	0.02	-0.3848	14.2401	0.65952	0.0:1.0:0.0:0.0	rs11552432	23;23	C9JJ19;P82930	.;RT34_HUMAN	Q	23	ENSP00000380531:E23Q;ENSP00000177742:E23Q	ENSP00000177742:E23Q	E	-	1	0	MRPS34	1763055	0.998000	0.40836	0.996000	0.52242	0.482000	0.33219	3.988000	0.56951	1.891000	0.54761	0.591000	0.81541	GAG	C|0.014;G|0.986		0.741	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936		G	1823054	C	G	1823054	3	3	45	1	0	0	0	0	1	0	0	0	9881	864	30	3	601	3	MRPS34	16	1823054	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		1823054	88531699	88	9714											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	45	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	390	1823444	88531309	89	9715											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2049849	2049849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacggagcccgtggggcgTgtgctcagaagctcctgcag	17	11	1	2	rs12149722	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:2049849T>C	ENST00000563630.1	-	9	1778	c.1536A>G	c.(1534-1536)acA>acG	p.T512T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.T512T|ZNF598_ENST00000431526.1_Silent_p.T567T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	567							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						CCGTGGGGCGTGTGCTCAGAA	0.672													T|||	631	0.125998	0.0061	0.2147	5008	,	,		14610	0.0456		0.1829	False		,,,				2504	0.2495				p.T567T		.											.	ZNF598-432	0			c.A1701G						.	T		125,3761		6,113,1824	11	14	13		1703	-5.3	0	16	dbSNP_120	13	1390,6838		115,1160,2839	no	coding-synonymous	ZNF598	NM_178167.2		121,1273,4663	CC,CT,TT		16.8935,3.2167,12.5062		567/905	2049849	1515,10599	1943	4114	6057	SO:0001819	synonymous_variant	90850	exon11			GGGGCGTGTGCTC	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.1536A>G	16.37:g.2049849T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_178167	0	0	8	23	15	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																				T|0.897;C|0.103		0.672	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		C	2049849	T	C	2049849	2	2	45	1	0	0	0	0	0	0	0	1	18076	1683	59	4		4	ZNF598	16	2049849	Silent	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	226405	2049849	88304904	90	9716											
MTHFSD	64779	bcgsc.ca	37	chr16	86575737	86575737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgatggtgaccaccggCgtctccttgctgacggcgcc	14	14	1	2	rs3829533	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr16:86575737C>T	ENST00000360900.6	-	6	550	c.525G>A	c.(523-525)acG>acA	p.T175T	MTHFSD_ENST00000322911.6_Silent_p.T174T|MTHFSD_ENST00000381214.5_Silent_p.T175T|MTHFSD_ENST00000543303.2_Silent_p.T174T|MTHFSD_ENST00000546093.1_Silent_p.T12T	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	175							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGACCACCGGCGTCTCCTTGC	0.582													C|||	586	0.117013	0.0083	0.1124	5008	,	,		19635	0.1617		0.1074	False		,,,				2504	0.2311				p.T175T		.											.	MTHFSD-90	0			c.G525A						.	C	,,,,	94,3988		0,94,1947	68	70	69		525,525,522,465,522	-0.3	0.9	16	dbSNP_107	69	824,7558		48,728,3415	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	,,,,	48,822,5362	TT,TC,CC		9.8306,2.3028,7.3652	,,,,	175/384,175/384,174/383,155/364,174/383	86575737	918,11546	2041	4191	6232	SO:0001819	synonymous_variant	64779	exon6			CACCGGCGTCTCC	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.525G>A	16.37:g.86575737C>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	167	7	NM_001159377	0	0	10	10	0	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	CCDS54047.1																																																																																			C|0.895;T|0.105		0.582	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		T	86575737	C	T	86575737	2	4	45	1	0	0	0	0	0	0	0	1	9971	755	27	1		1	MTHFSD	16	86575737	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	84525888	86575737	3779016	91	9717											
KDM6B	23135	broad.mit.edu	37	chr17	7752795	7752795	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttctgcccagcccacAcccccgtcagcctctgtccc	6	23	3	0	rs369052495		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:7752795A>C	ENST00000448097.2	+	11	3520	c.3189A>C	c.(3187-3189)acA>acC	p.T1063T	KDM6B_ENST00000254846.5_Silent_p.T1063T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1063	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						CCCAGCCCACACCCCCGTCAG	0.672																																					p.T1063T		.											.	KDM6B-205	0			c.A3189C						.						15	16	15					17																	7752795		2180	4265	6445	SO:0001819	synonymous_variant	23135	exon11			GCCCACACCCCCG	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.3189A>C	17.37:g.7752795A>C		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	67	7	NM_001080424	0	0	5	5	0	C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37																																																																																				.		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		C	7752795	A	C	7752795	2	2	45	1	0	0	0	0	0	0	0	1	8165	146	6	5		5	KDM6B	17	7752795	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10		7752795	73442415	92	9718											
ACACA	31	bcgsc.ca	37	chr17	35609866	35609866	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagtatcaattctgttcatCtgaaagctttcagtctctaa	5	10	6	1	rs2229416	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:35609866C>T	ENST00000394406.2	-	15	2002	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	ACACA_ENST00000360679.3_Silent_p.Q546Q|ACACA_ENST00000335166.5_Silent_p.Q526Q|ACACA_ENST00000353139.5_Silent_p.Q641Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	604	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTGTTCATCTGAAAGCTTT	0.423													C|||	1101	0.219848	0.0227	0.1412	5008	,	,		18528	0.4534		0.1561	False		,,,				2504	0.3671				p.Q641Q	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA-154	0			c.G1923A						.	C	,,,,	169,4237	111.6+/-149.8	2,165,2036	173	173	173		1923,1812,1638,1578,1812	4.1	1	17	dbSNP_98	173	1096,7504	228.7+/-263.7	60,976,3264	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACACA	NM_198834.1,NM_198836.1,NM_198837.1,NM_198838.1,NM_198839.1	,,,,	62,1141,5300	TT,TC,CC		12.7442,3.8357,9.7263	,,,,	641/2384,604/2347,546/2289,526/2269,604/2347	35609866	1265,11741	2203	4300	6503	SO:0001819	synonymous_variant	31	exon15			GTTCATCTGAAAG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1812G>A	17.37:g.35609866C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	76	5	NM_198834	0	0	0	0	0	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																			T|0.139;C|0.861		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35609866	C	T	35609866	2	4	45	1	0	0	0	0	0	0	0	1	106	912	32	3		3	ACACA	17	35609866	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	27857071	35609866	45585344	93	9719											
KRTAP4-8	728224	hgsc.bcm.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcactggggcttgcagcaGctggacacacagcagctggg	15	12	0	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																					p.S108R		.											.	.	1	Substitution - Missense(1)	lung(1)	c.C324G						.						4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224	exon1			GCAGCAGCTGGAC	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	123	22	NM_031960	0	0	0	0	0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC	.		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		C	39254013	G	C	39254013	3	2	45	1	0	0	0	0	1	0	0	0	8584	962	34	3	237	3	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	3644147	39254013	41941197	94	9720											
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274238	39274238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggcgAcagcagctggagatgcagca	15	11	0	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																					p.C110C		.											.	.	0			c.T330C						.						5	9	8					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240	exon1			GGGGCGACAGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	135	10	NM_033059	0	0	0	0	0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			G	39274238	A	G	39274238	2	3	45	1	0	0	0	0	0	0	0	1	8577	273	10	4		4	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	20225	39274238	41920972	95	9721											
TMC6	11322	bcgsc.ca	37	chr17	76121864	76121864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggcggaggctgggccAggcggagcggacaaagttcc	18	10	0	0	rs2748427	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:76121864A>G	ENST00000590602.1	-	5	532	c.373T>C	c.(373-375)Tgg>Cgg	p.W125R	TMC6_ENST00000392467.3_Missense_Mutation_p.W125R|TMC6_ENST00000306591.7_Missense_Mutation_p.W125R|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Missense_Mutation_p.W125R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	125			W -> R (in dbSNP:rs2748427). {ECO:0000269|PubMed:12426567}.		ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGCTGGGCCAGGCGGAGCGG	0.692													g|||	1677	0.334864	0.5227	0.2205	5008	,	,		15563	0.2907		0.2127	False		,,,				2504	0.3333				p.W125R		.											.	TMC6-90	0			c.T373C						.	G	ARG/TRP,ARG/TRP	1833,2473		400,1033,720	19	21	20		373,373	4	1	17	dbSNP_100	20	1664,6830		167,1330,2750	yes	missense,missense	TMC6	NM_001127198.1,NM_007267.6	101,101	567,2363,3470	GG,GA,AA		19.5903,42.5685,27.3203	benign,benign	125/806,125/806	76121864	3497,9303	2153	4247	6400	SO:0001583	missense	11322	exon5			TGGGCCAGGCGGA	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.373T>C	17.37:g.76121864A>G	ENSP00000465261:p.Trp125Arg	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	147	109	NM_001127198	0	0	1	1	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	622	0.2847985347985348	250	0.508130081300813	84	0.23204419889502761	139	0.243006993006993	149	0.19656992084432717	g	0.022	-1.411136	0.01145	0.425685	0.195903	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.40476	1.03;1.03;1.03	4.02	4.02	0.46733	.	.	.	.	.	T	0.00012	0.0000	N	0.00112	-2.095	0.09310	P	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47315	-0.9127	8	0.02654	T	1	-21.6129	6.839	0.23953	0.0925:0.0:0.7353:0.1721	rs2748427;rs3751960;rs57302399	125;125	Q7Z403-2;Q7Z403	.;TMC6_HUMAN	R	125	ENSP00000313408:W125R;ENSP00000376260:W125R;ENSP00000306405:W125R	ENSP00000306405:W125R	W	-	1	0	TMC6	73633459	1.000000	0.71417	0.996000	0.52242	0.110000	0.19582	2.022000	0.41030	0.695000	0.31675	-0.224000	0.12420	TGG	A|0.702;G|0.298		0.692	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			G	76121864	A	G	76121864	3	3	45	1	0	0	0	0	1	0	0	0	16036	188	7	4	2108	4	TMC6	17	76121864	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	36847626	76121864	5073346	96	9722											
CBX4	8535	hgsc.bcm.edu	37	chr17	77808133	77808133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgccccccaggcaggtGggggtgctgatgctgcgcgc	19	13	0	1	rs62075209	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr17:77808133G>A	ENST00000269397.4	-	5	1485	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	436	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAGGCAGGTGGGGGTGCTGA	0.721													G|||	18	0.00359425	0	0.0058	5008	,	,		9233	0		0.0099	False		,,,				2504	0.0041				p.P436P		.											.	CBX4-228	0			c.C1308T						.	G		2,4016		0,2,2007	4	6	5		1308	1.8	1	17	dbSNP_129	5	32,7860		0,32,3914	no	coding-synonymous	CBX4	NM_003655.2		0,34,5921	AA,AG,GG		0.4055,0.0498,0.2855		436/561	77808133	34,11876	2009	3946	5955	SO:0001819	synonymous_variant	8535	exon5			GCAGGTGGGGGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1308C>T	17.37:g.77808133G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_003655	0	0	0	0	0	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	CCDS32758.1																																																																																			G|0.993;A|0.007		0.721	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		A	77808133	G	A	77808133	2	1	45	1	0	0	0	0	0	0	0	1	2727	1335	47	3		3	CBX4	17	77808133	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	1686269	77808133	3387077	97	9723											
MADCAM1	8174	bcgsc.ca	37	chr19	501701	501701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacctccccggagcctcccGacaccacctccccggagtct	8	22	1	0	rs71171990|rs72970252	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:501701G>A	ENST00000215637.3	+	4	746	c.700G>A	c.(700-702)Gac>Aac	p.D234N	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.D15N|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	234	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCTCCCGACACCACCTC	0.652																																					p.D234N		.											.	MADCAM1-90	0			c.G700A						.						31	45	40					19																	501701		2203	4299	6502	SO:0001583	missense	8174	exon4			CCTCCCGACACCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.700G>A	19.37:g.501701G>A	ENSP00000215637:p.Asp234Asn	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	153	10	NM_130760	0	0	0	0	0	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	308	0.14102564102564102	38	0.07723577235772358	55	0.15193370165745856	90	0.15734265734265734	125	0.16490765171503957	g	8.795	0.931415	0.18131	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.10382	2.88	4.28	-4.55	0.03441	.	3.221950	0.01471	N	0.016293	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.37641	-0.9697	9	0.13853	T	0.58	.	12.1068	0.53818	0.7972:0.0:0.2028:0.0	.	234	Q13477	MADCA_HUMAN	N	258;250;242;234	ENSP00000215637:D234N	ENSP00000215637:D234N	D	+	1	0	MADCAM1	452701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.470000	0.06639	-0.806000	0.04398	-0.199000	0.12753	GAC	G|0.879;A|0.121		0.652	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		A	501701	G	A	501701	3	1	45	1	0	0	0	0	1	0	0	0	9187	1058	37	1	714	1	MADCAM1	19	501701	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10		501701	58627282	98	9724											
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881488	1881488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccggcggcaggaaggcGagcttggcagcgatgcggcc	18	13	0	0	rs200425255	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:1881488G>A	ENST00000292577.7	-	2	511	c.78C>T	c.(76-78)ctC>ctT	p.L26L	ABHD17A_ENST00000590661.1_Silent_p.L26L|ABHD17A_ENST00000250974.9_Silent_p.L26L	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	26						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCAGGAAGGCGAGCTTGGCAG	0.751													g|||	2	0.000399361	8e-04	0	5008	,	,		13018	0		0.001	False		,,,				2504	0				p.L26L		.											.	FAM108A1-90	0			c.C78T						.	G	,	1,3823		0,1,1911	10	14	13		78,78	1.3	1	19		13	11,7877		0,11,3933	no	coding-synonymous,coding-synonymous	FAM108A1	NM_001130111.1,NM_031213.3	,	0,12,5844	AA,AG,GG		0.1395,0.0262,0.1025	,	26/311,26/362	1881488	12,11700	1912	3944	5856	SO:0001819	synonymous_variant	81926	exon2			GAAGGCGAGCTTG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.78C>T	19.37:g.1881488G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_031213	0	0	8	25	17	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			G|0.999;A|0.001		0.751	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		A	1881488	G	A	1881488	2	1	45	1	0	0	0	0	0	0	0	1	5410	1045	37	1		1	FAM108A1	19	1881488	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	1379787	1881488	57247495	99	9725											
LINGO3	645191	hgsc.bcm.edu	37	chr19	2291501	2291501	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggcgccgggctccacgTgcgcgatggcgttctcgctc	15	15	1	0	rs201142184	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:2291501T>A	ENST00000585527.1	-	1	522	c.275A>T	c.(274-276)cAc>cTc	p.H92L	LINGO3_ENST00000404279.1_Missense_Mutation_p.H92L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	92						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GGGCTCCACGTGCGCGATGGC	0.726													T|||	7	0.00139776	0	0.0058	5008	,	,		10848	0		0.003	False		,,,				2504	0				p.H92L		.											.	.	0			c.A275T						.	T	LEU/HIS	10,4248		0,10,2119	20	23	22		275	4.1	1	19		22	69,8361		0,69,4146	no	missense	LINGO3	NM_001101391.1	99	0,79,6265	AA,AT,TT		0.8185,0.2349,0.6226	benign	92/593	2291501	79,12609	2129	4215	6344	SO:0001583	missense	645191	exon2			TCCACGTGCGCGA	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.275A>T	19.37:g.2291501T>A	ENSP00000467753:p.His92Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	47	38	NM_001101391	0	0	0	0	0		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	t	7.646	0.681824	0.14907	0.002349	0.008185	ENSG00000220008	ENST00000404279	T	0.57436	0.4	4.05	4.05	0.47172	.	.	.	.	.	T	0.24314	0.0589	N	0.10945	0.07	0.26948	N	0.966094	B	0.15473	0.013	B	0.14578	0.011	T	0.11916	-1.0568	9	0.31617	T	0.26	.	8.7153	0.34408	0.0:0.0:0.1921:0.8079	.	92	P0C6S8	LIGO3_HUMAN	L	92	ENSP00000384979:H92L	ENSP00000384979:H92L	H	-	2	0	LINGO3	2242501	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.406000	0.21032	1.456000	0.47831	0.379000	0.24179	CAC	T|0.998;A|0.002		0.726	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		A	2291501	T	A	2291501	3	1	45	1	0	0	0	0	1	0	0	0	8846	1696	59	5	1507	5	LINGO3	19	2291501	Missense_Mutation	SNP	T	TCGA-OR-A5L5-01A-11D-A29I-10	410013	2291501	56837482	100	9726											
PTPRS	5802	hgsc.bcm.edu	37	chr19	5222831	5222831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgagcgcgttctccGcgcccggctcagccgctgcc	14	18	2	1	rs2230610	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:5222831G>A	ENST00000587303.1	-	17	3071	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	PTPRS_ENST00000348075.2_Missense_Mutation_p.A969V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A991V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A969V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.A992V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A987V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	991	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGCGTTCTCCGCGCCCGGCTC	0.736													G|||	35	0.00698882	0	0.0058	5008	,	,		8299	0		0.0298	False		,,,				2504	0.001				p.A991V		.											.	PTPRS-357	0			c.C2972T						.	G	VAL/ALA,,VAL/ALA,	18,4126		0,18,2054	10	14	13		2972,,2906,	3.5	1	19	dbSNP_98	13	223,7773		3,217,3778	yes	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	3,235,5832	AA,AG,GG		2.7889,0.4344,1.9852	benign,,benign,	991/1949,,969/1911,	5222831	241,11899	2072	3998	6070	SO:0001583	missense	5802	exon18			TTCTCCGCGCCCG	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.2972C>T	19.37:g.5222831G>A	ENSP00000467537:p.Ala991Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_002850	1	0	0	3	2	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	33	0.01510989010989011	0	0.0	6	0.016574585635359115	0	0.0	27	0.03562005277044855	G	13.79	2.342295	0.41498	0.004344	0.027889	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.085994	0.47093	U	0.000244	T	0.35856	0.0946	M	0.65498	2.005	0.80722	D	1	D;P	0.76494	0.999;0.663	D;B	0.71184	0.972;0.196	T	0.55585	-0.8118	10	0.25751	T	0.34	.	16.2373	0.82384	0.0:0.0:1.0:0.0	rs2230610	969;991	Q13332-6;Q13332	.;PTPRS_HUMAN	V	992;991;991;982;987;969	ENSP00000361489:A992V;ENSP00000349932:A991V;ENSP00000262963:A987V;ENSP00000269907:A969V	ENSP00000262963:A987V	A	-	2	0	PTPRS	5173831	0.995000	0.38212	1.000000	0.80357	0.237000	0.25408	2.558000	0.45879	2.257000	0.74773	0.557000	0.71058	GCG	G|0.979;A|0.021		0.736	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5222831	G	A	5222831	3	1	45	1	0	0	0	0	1	0	0	0	12856	1087	38	1	2958	1	PTPRS	19	5222831	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	2931330	5222831	53906152	101	9727											
ZNF414	84330	hgsc.bcm.edu	37	chr19	8576670	8576670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggttccagcagcgggaaCggcaggcccggcgctgatgc	17	12	0	1	rs7175	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:8576670C>T	ENST00000255616.8	-	5	806	c.705G>A	c.(703-705)ccG>ccA	p.P235P	ZNF414_ENST00000393927.4_Silent_p.P235P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GCAGCGGGAACGGCAGGCCCG	0.771													C|||	1010	0.201677	0.2897	0.1686	5008	,	,		8403	0.1746		0.1988	False		,,,				2504	0.137				p.P235P		.											.	ZNF414-90	0			c.G705A						.	C	,	887,3039		132,623,1208	4	6	5		705,705	-2	0	19	dbSNP_52	5	1238,6388		127,984,2702	no	coding-synonymous,coding-synonymous	ZNF414	NM_001146175.1,NM_032370.2	,	259,1607,3910	TT,TC,CC		16.2339,22.593,18.3951	,	235/391,235/313	8576670	2125,9427	1963	3813	5776	SO:0001819	synonymous_variant	84330	exon5			CGGGAACGGCAGG	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.705G>A	19.37:g.8576670C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	21	NM_032370	0	0	0	3	3	A8MY94	Silent	SNP	ENST00000255616.8	37	CCDS12205.1																																																																																			C|0.788;T|0.212		0.771	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		T	8576670	C	T	8576670	2	4	45	1	0	0	0	0	0	0	0	1	17939	523	19	1		1	ZNF414	19	8576670	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	3353839	8576670	50552313	102	9728											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	45	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	6557256	15133926	43995057	103	9729											
OCEL1	79629	hgsc.bcm.edu	37	chr19	17337555	17337555	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgacgccccccgcaggacCcgcccatcagcccggaaacc	9	22	1	0	rs3745163	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:17337555C>A	ENST00000215061.4	+	2	167	c.123C>A	c.(121-123)acC>acA	p.T41T	OCEL1_ENST00000601529.1_Silent_p.T41T|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_5'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	41	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCGCAGGACCCGCCCATCAG	0.746													C|||	1146	0.228834	0.1702	0.2522	5008	,	,		10081	0.4018		0.2018	False		,,,				2504	0.1411				p.T41T		.											.	OCEL1-68	0			c.C123A						.	C		573,3093		51,471,1311	4	6	5		123	-3.2	0	19	dbSNP_107	5	1379,6017		128,1123,2447	no	coding-synonymous	OCEL1	NM_024578.1		179,1594,3758	AA,AC,CC		18.6452,15.6301,17.646		41/265	17337555	1952,9110	1833	3698	5531	SO:0001819	synonymous_variant	79629	exon2			CAGGACCCGCCCA	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.123C>A	19.37:g.17337555C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_024578	0	0	1	12	11		Silent	SNP	ENST00000215061.4	37	CCDS12351.1																																																																																			C|0.734;A|0.266		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		A	17337555	C	A	17337555	2	1	45	1	0	0	0	0	0	0	0	1	10855	610	22	3		3	OCEL1	19	17337555	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	2203629	17337555	41791428	104	9730											
TMEM149	79713	hgsc.bcm.edu	37	chr19	36231288	36231288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatctgcacctctctgCagcgccacggggttctgccc	10	18	3	0	rs140952221	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:36231288C>T	ENST00000592537.1	-	3	435	c.335G>A	c.(334-336)tGc>tAc	p.C112Y	IGFLR1_ENST00000246532.1_Missense_Mutation_p.C112Y|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CACCTCTCTGCAGCGCCACGG	0.736													C|||	33	0.00658946	0.0023	0.0058	5008	,	,		12274	0		0.0249	False		,,,				2504	0.001				p.C112Y		.											.	IGFLR1-90	0			c.G335A						.	C	TYR/CYS	26,4172		0,26,2073	10	12	11		335	2.6	0	19	dbSNP_134	11	132,8154		0,132,4011	yes	missense	IGFLR1	NM_024660.2	194	0,158,6084	TT,TC,CC		1.593,0.6193,1.2656	probably-damaging	112/356	36231288	158,12326	2099	4143	6242	SO:0001583	missense	79713	exon3			TCTCTGCAGCGCC	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.335G>A	19.37:g.36231288C>T	ENSP00000466181:p.Cys112Tyr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_024660	0	0	0	0	0	Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	CCDS12472.1	24	0.01098901098901099	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	21	0.027704485488126648	C	21.0	4.077444	0.76528	0.006193	0.01593	ENSG00000126246	ENST00000246532	D	0.92099	-2.97	4.69	2.59	0.31030	.	0.129434	0.51477	D	0.000082	D	0.84547	0.5496	L	0.59436	1.845	0.19775	N	0.999954	D	0.64830	0.994	D	0.64321	0.924	T	0.79381	-0.1827	10	0.87932	D	0	-14.1129	6.4313	0.21798	0.0:0.7844:0.0:0.2156	.	112	Q9H665	IGFR1_HUMAN	Y	112	ENSP00000246532:C112Y	ENSP00000246532:C112Y	C	-	2	0	IGFLR1	40923128	0.000000	0.05858	0.007000	0.13788	0.536000	0.34869	0.824000	0.27379	1.346000	0.45694	0.561000	0.74099	TGC	C|0.989;T|0.011		0.736	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		T	36231288	C	T	36231288	3	4	45	1	0	0	0	0	1	0	0	0	16109	710	25	3	744	3	TMEM149	19	36231288	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	18893733	36231288	22897695	105	9731											
ZNF420	147923	broad.mit.edu	37	chr19	37618242	37618242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatcatatatgacaaaAtgtccattttcaaccagcat	6	8	2	2			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:37618242A>G	ENST00000337995.3	+	5	564	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.M117V|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATGACAAAATGTCCATTTT	0.383																																					p.M117V		.											.	ZNF420-90	0			c.A349G						.						103	102	102					19																	37618242		2203	4300	6503	SO:0001583	missense	147923	exon5			GACAAAATGTCCA	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.349A>G	19.37:g.37618242A>G	ENSP00000338770:p.Met117Val	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	225	4	NM_144689	0	0	1	1	0	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.297	-0.976320	0.02215	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.05996	3.36;3.49	3.77	2.75	0.32379	.	.	.	.	.	T	0.03651	0.0104	N	0.12961	0.28	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46303	-0.9201	9	0.27785	T	0.31	.	7.1889	0.25814	0.8887:0.0:0.1113:0.0	.	117	Q8TAQ5	ZN420_HUMAN	V	117	ENSP00000306102:M117V;ENSP00000338770:M117V	ENSP00000306102:M117V	M	+	1	0	ZNF420	42310082	0.000000	0.05858	0.892000	0.35008	0.681000	0.39784	0.338000	0.19858	0.616000	0.30141	0.459000	0.35465	ATG	.		0.383	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		G	37618242	A	G	37618242	3	3	45	1	0	0	0	0	1	0	0	0	17945	101	4	4	359	4	ZNF420	19	37618242	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	1386954	37618242	21510741	106	9732											
ZNF285	26974	ucsc.edu	37	chr19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacacacattgcatttgtatGgtttctcccctgtgtggact	8	11	1	0	rs77661661		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																					p.P455Q		.											.	ZNF285-94	1	Substitution - Missense(1)	skin(1)	c.C1364A						.																																			SO:0001583	missense	26974	exon4			TTGTATGGTTTCT	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln	Somatic	163	4		WXS	Illumina GAIIx	Phase_I	183	28	NM_152354	0	0	1	1	0	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA	.		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891043	G	T	44891043	3	4	45	1	0	0	0	0	1	0	0	0	17870	1348	47	3	412	3	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	7272801	44891043	14237940	107	9733											
SCAF1	58506	hgsc.bcm.edu	37	chr19	50154607	50154607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggtgacgagagccccCgcccggacgcgcagcccaca	12	19	0	2	rs146455893	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:50154607C>T	ENST00000360565.3	+	7	1085	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	321					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGAGCCCCCGCCCGGACGC	0.697																																					p.R321C		.											.	SCAF1-68	0			c.C961T						.	C	CYS/ARG	2,4400		0,2,2199	18	19	19		961	0.7	0.2	19	dbSNP_134	19	5,8591		0,5,4293	no	missense	SCAF1	NM_021228.2	180	0,7,6492	TT,TC,CC		0.0582,0.0454,0.0539	possibly-damaging	321/1313	50154607	7,12991	2201	4298	6499	SO:0001583	missense	58506	exon7			AGCCCCCGCCCGG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.961C>T	19.37:g.50154607C>T	ENSP00000353769:p.Arg321Cys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	15	11	NM_021228	0	0	2	7	5	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595518	0.46318	4.54E-4	5.82E-4	ENSG00000126461	ENST00000360565	T	0.34275	1.37	4.47	0.683	0.17998	.	1.130880	0.06849	N	0.797016	T	0.19685	0.0473	N	0.08118	0	0.09310	N	0.999999	P	0.44281	0.831	B	0.36186	0.219	T	0.23547	-1.0185	9	.	.	.	-2.8823	14.2469	0.65995	0.0:0.4311:0.5689:0.0	.	321	Q9H7N4	SFR19_HUMAN	C	321	ENSP00000353769:R321C	.	R	+	1	0	SCAF1	54846419	0.000000	0.05858	0.200000	0.23457	0.964000	0.63967	-0.197000	0.09518	0.401000	0.25424	0.591000	0.81541	CGC	A|0.000;C|0.999;T|0.001		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50154607	C	T	50154607	3	4	45	1	0	0	0	0	1	0	0	0	13913	652	23	1	983	1	SCAF1	19	50154607	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	5263564	50154607	8974376	108	9734											
SHANK1	50944	broad.mit.edu	37	chr19	51165375	51165376	+	Frame_Shift_Ins	INS	-	-	C													gggctcggtgctccgccaaaINScccagccactccagccaatc					rs199962734|rs146869643		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:51165375_51165376insC	ENST00000293441.1	-	23	6350_6351	c.6332_6333insG	c.(6331-6333)ggtfs	p.G2111fs	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.G1498fs|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.G2119fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.G2102fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2111	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		GCTCCGCCAAACCCAGCCACTC	0.639																																					p.G2111fs		.											.	SHANK1-153	0			c.6333_6334insG						.																																			SO:0001589	frameshift_variant	50944	exon23			CGCCAAACCCAGC	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.6333dupG	19.37:g.51165378_51165378dupC	ENSP00000293441:p.Gly2111fs	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	240	8	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	CCDS12799.1																																																																																			.		0.639	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		C	51165376	-	C	51165375	7	5	45	1	0	1	1	0	0	0	0	0	14309	30	2	0	156	0	SHANK1	19	51165375	Frame_Shift_Ins	INS	-	TCGA-OR-A5L5-01A-11D-A29I-10	1010768	51165375	7963608	109	9735											
NLRP5	126206	bcgsc.ca	37	chr19	56572875	56572875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttgatgaagatgaccGgtactggtggaaaaactgaa	11	5	1	5	rs36118060	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr19:56572875G>A	ENST00000390649.3	+	15	3584	c.3584G>A	c.(3583-3585)cGg>cAg	p.R1195Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1195			R -> Q (in dbSNP:rs36118060).		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)		GAAGATGACCGGTACTGGTGG	0.488													G|||	857	0.171126	0.0749	0.1153	5008	,	,		19788	0.3373		0.1342	False		,,,				2504	0.2076				p.R1195Q		.											.	NLRP5-162	0			c.G3584A						.	G	GLN/ARG	289,3569		10,269,1650	149	141	143		3584	0	0	19	dbSNP_126	143	1208,7068		92,1024,3022	yes	missense	NLRP5	NM_153447.4	43	102,1293,4672	AA,AG,GG		14.5964,7.4909,12.3372	probably-damaging	1195/1201	56572875	1497,10637	1929	4138	6067	SO:0001583	missense	126206	exon15			ATGACCGGTACTG	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.3584G>A	19.37:g.56572875G>A	ENSP00000375063:p.Arg1195Gln	Somatic	190	2		WXS	Illumina GAIIx	Phase_I	204	7	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	372	0.17032967032967034	25	0.0508130081300813	40	0.11049723756906077	205	0.3583916083916084	102	0.1345646437994723	G	14.57	2.575088	0.45902	0.074909	0.145964	ENSG00000171487	ENST00000390649	T	0.72394	-0.65	3.43	-0.0225	0.13947	.	.	.	.	.	T	0.00012	0.0000	L	0.57536	1.79	0.80722	P	0.0	D	0.64830	0.994	P	0.47102	0.537	T	0.11275	-1.0594	8	0.27785	T	0.31	.	3.7389	0.08521	0.2376:0.2052:0.5572:0.0	rs36118060	1195	P59047	NALP5_HUMAN	Q	1195	ENSP00000375063:R1195Q	ENSP00000375063:R1195Q	R	+	2	0	NLRP5	61264687	0.021000	0.18746	0.036000	0.18154	0.927000	0.56198	0.528000	0.23002	0.092000	0.17331	0.655000	0.94253	CGG	G|0.825;A|0.175		0.488	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56572875	G	A	56572875	3	1	45	1	0	0	0	0	1	0	0	0	10519	1116	39	1	3642	1	NLRP5	19	56572875	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	5407500	56572875	2556108	110	9736											
TMC2	117532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2573005	2573005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaaagacagtgcctcGggctgaggaagaaaaggcca	13	10	0	4			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr20:2573005G>A	ENST00000358864.1	+	8	899	c.884G>A	c.(883-885)cGg>cAg	p.R295Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	295					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAGTGCCTCGGGCTGAGGAA	0.428																																					p.R295Q		.											.	TMC2-93	0			c.G884A						.						163	148	153					20																	2573005		2203	4300	6503	SO:0001583	missense	117532	exon8			TGCCTCGGGCTGA	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.884G>A	20.37:g.2573005G>A	ENSP00000351732:p.Arg295Gln	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	189	61	NM_080751	0	0	0	0	0	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944198	0.92593	.	.	ENSG00000149488	ENST00000358864	T	0.28895	1.59	4.9	4.9	0.64082	.	0.106319	0.64402	D	0.000007	T	0.53498	0.1800	M	0.70787	2.145	0.50039	D	0.999842	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.999	T	0.47849	-0.9085	10	0.27082	T	0.32	-17.5056	15.9487	0.79813	0.0:0.0:1.0:0.0	.	126;127;295;295	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	Q	295	ENSP00000351732:R295Q	ENSP00000351732:R295Q	R	+	2	0	TMC2	2521005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.454000	0.82982	0.563000	0.77884	CGG	.		0.428	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2573005	G	A	2573005	3	1	45	1	0	0	0	0	1	0	0	0	16032	1116	39	1	914	1	TMC2	20	2573005	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10		2573005	60452515	111	9737											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_024855	0	0	0	2	2	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	45	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	34804134	37377139	25648381	112	9738											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G													gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc					rs759610		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	45	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		20780091	30524475	113	9739	99	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C													tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt					rs759609		TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	45	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	6	20780097	30524469	114	9740	99	2									
CRYBB1	1414	bcgsc.ca	37	chr22	26995525	26995525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtcacgcaggcgacGcagggactgcatctgtggct	14	12	2	0			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:26995525G>T	ENST00000215939.2	-	6	818	c.688C>A	c.(688-690)Cgt>Agt	p.R230S	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	230	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGCAGGCGACGCAGGGACTGC	0.627																																					p.R230S		.											.	CRYBB1-91	0			c.C688A						.						70	60	63					22																	26995525		2203	4300	6503	SO:0001583	missense	1414	exon6			GGCGACGCAGGGA		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.688C>A	22.37:g.26995525G>T	ENSP00000215939:p.Arg230Ser	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	169	6	NM_001887	0	0	2	2	0		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234511	0.79800	.	.	ENSG00000100122	ENST00000215939	D	0.82081	-1.57	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96272	0.9199	10	0.87932	D	0	.	16.1035	0.81203	0.0:0.0:1.0:0.0	.	230	P53674	CRBB1_HUMAN	S	230	ENSP00000215939:R230S	ENSP00000215939:R230S	R	-	1	0	CRYBB1	25325525	1.000000	0.71417	0.942000	0.38095	0.867000	0.49689	4.975000	0.63777	2.351000	0.79841	0.563000	0.77884	CGT	.		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		T	26995525	G	T	26995525	3	4	45	1	0	0	0	0	1	0	0	0	3917	1087	38	2	74	2	CRYBB1	22	26995525	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	6215428	26995525	24309041	115	9741											
MN1	4330	hgsc.bcm.edu	37	chr22	28195386	28195386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgcccgcctcgccctgCtggggccgagggagcgcagg	19	15	0	0	rs45589338	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:28195386C>A	ENST00000302326.4	-	1	2100	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	382			Q -> H (in dbSNP:rs45589338).		intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCTCGCCCTGCTGGGGCCGAG	0.726			T	ETV6	"AML, meningioma"								C|||	74	0.0147764	0.0023	0.0202	5008	,	,		9892	0		0.0427	False		,,,				2504	0.0143				p.Q382H		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.G1146T						.	C	HIS/GLN	22,3204		0,22,1591	5	6	6		1146	4.2	1	22	dbSNP_127	6	230,7036		1,228,3404	yes	missense	MN1	NM_002430.2	24	1,250,4995	AA,AC,CC		3.1654,0.682,2.4018	possibly-damaging	382/1321	28195386	252,10240	1613	3633	5246	SO:0001583	missense	4330	exon1			GCCCTGCTGGGGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1146G>T	22.37:g.28195386C>A	ENSP00000304956:p.Gln382His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	26	0.011904761904761904	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	20	0.026385224274406333	C	12.59	1.982741	0.34942	0.00682	0.031654	ENSG00000169184	ENST00000302326	T	0.46819	0.86	5.29	4.19	0.49359	.	0.530958	0.19784	N	0.106150	T	0.16981	0.0408	N	0.08118	0	0.36398	D	0.862938	D	0.53151	0.958	P	0.51135	0.66	T	0.41413	-0.9510	10	0.36615	T	0.2	-1.5205	16.6783	0.85285	0.0:0.8592:0.1408:0.0	rs45589338	382	Q10571	MN1_HUMAN	H	382	ENSP00000304956:Q382H	ENSP00000304956:Q382H	Q	-	3	2	MN1	26525386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.165000	0.31822	2.473000	0.83533	0.484000	0.47621	CAG	C|0.986;A|0.014		0.726	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28195386	C	A	28195386	3	1	45	1	0	0	0	0	1	0	0	0	9711	796	28	3	2824	3	MN1	22	28195386	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	1199861	28195386	23109180	116	9742											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	45	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	9927076	38122462	13182104	117	9743											
PRR5	55615	hgsc.bcm.edu	37	chr22	45132831	45132831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagatgacgtcctgccccGagcctcagggcttctccgac	12	16	2	2	rs56299305	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:45132831G>A	ENST00000336985.6	+	8	1148	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.E282K|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.E314K|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	291					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GTCCTGCCCCGAGCCTCAGGG	0.736													G|||	12	0.00239617	0	0	5008	,	,		12789	0		0.0119	False		,,,				2504	0				p.E314K		.											.	PRR5-23	0			c.G940A						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	8,4348		0,8,2170	12	15	14		844,586,586,940,844,871,	5	1	22	dbSNP_129	14	56,8486		0,56,4215	yes	missense,missense,missense,missense,missense,missense,intron	PRR5,PRR5-ARHGAP8	NM_001017528.2,NM_001017529.2,NM_001017530.1,NM_001198721.1,NM_015366.3,NM_181333.3,NM_181334.4	56,56,56,56,56,56,	0,64,6385	AA,AG,GG		0.6556,0.1837,0.4962	,,,,,,	282/380,196/294,196/294,314/412,282/380,291/389,	45132831	64,12834	2178	4271	6449	SO:0001583	missense	55615	exon10			TGCCCCGAGCCTC	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.871G>A	22.37:g.45132831G>A	ENSP00000337464:p.Glu291Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	30	10	NM_001198721	0	0	5	7	2	B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	CCDS14058.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	34	5.402083	0.96030	0.001837	0.006556	ENSG00000186654	ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	T;T;T	0.37752	1.23;1.18;1.22	5.01	5.01	0.66863	.	.	.	.	.	T	0.50274	0.1606	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.997;0.997	D;P;D;P;P	0.87578	0.994;0.735;0.998;0.735;0.735	T	0.54735	-0.8249	8	.	.	.	.	17.8924	0.88876	0.0:0.0:1.0:0.0	rs56299305	255;314;190;291;291	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	K	282;255;314;291	ENSP00000006251:E282K;ENSP00000384848:E314K;ENSP00000337464:E291K	.	E	+	1	0	PRR5	43511495	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.033000	0.70925	2.308000	0.77769	0.313000	0.20887	GAG	G|0.995;A|0.005		0.736	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		A	45132831	G	A	45132831	3	1	45	1	0	0	0	0	1	0	0	0	12642	1059	37	1	901	1	PRR5	22	45132831	Missense_Mutation	SNP	G	TCGA-OR-A5L5-01A-11D-A29I-10	7010369	45132831	6171735	118	9744											
TTC38	55020	bcgsc.ca	37	chr22	46664412	46664412	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttgccgtctgtaggCctggaaggatgcgaggctcc	13	13	2	0	rs117135869	byFrequency	TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chr22:46664412C>T	ENST00000381031.3	+	2	111	c.35C>T	c.(34-36)gCc>gTc	p.A12V	TTC38_ENST00000445282.2_Splice_Site_p.A12V	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	12						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CGTCTGTAGGCCTGGAAGGAT	0.602													C|||	29	0.00579073	0.0015	0.0072	5008	,	,		14810	0		0.0199	False		,,,				2504	0.002				p.A12V		.											.	TTC38-91	0			c.C35T						.	C	VAL/ALA	7,4357		0,7,2175	42	51	48		35	5.1	1	22	dbSNP_132	48	139,8419		0,139,4140	yes	missense-near-splice	TTC38	NM_017931.2	64	0,146,6315	TT,TC,CC		1.6242,0.1604,1.1299	probably-damaging	12/470	46664412	146,12776	2182	4279	6461	SO:0001630	splice_region_variant	55020	exon2			TGTAGGCCTGGAA		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.34-1C>T	22.37:g.46664412C>T		Somatic	155	4		WXS	Illumina GAIIx	Phase_I	151	8	NM_017931	0	0	0	0	0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	15	0.006868131868131868	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	36	5.602889	0.96614	0.001604	0.016242	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;D	0.83075	-1.68;-1.68;-1.68	5.13	5.13	0.70059	.	0.051624	0.85682	D	0.000000	D	0.85204	0.5643	M	0.77820	2.39	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	D	0.88336	0.2971	10	0.62326	D	0.03	-4.358	17.9252	0.88982	0.0:1.0:0.0:0.0	.	12;12	E7ES35;Q5R3I4	.;TTC38_HUMAN	V	12	ENSP00000370419:A12V;ENSP00000393960:A12V;ENSP00000410095:A12V	ENSP00000370419:A12V	A	+	2	0	TTC38	45043076	1.000000	0.71417	0.952000	0.39060	0.757000	0.42996	6.882000	0.75589	2.532000	0.85374	0.561000	0.74099	GCC	C|0.990;T|0.010		0.602	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	Missense_Mutation	T	46664412	C	T	46664412	5	4	45	1	0	0	0	0	0	0	1	0	16755	753	26	3	41	3	TTC38	22	46664412	Splice_Site	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10	1531581	46664412	4640154	119	9745											
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	3240298	3240298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgagaagggtgagtgCtcatggtggatgacggagca	16	7	1	3			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chrX:3240298C>G	ENST00000217939.6	-	5	3582	c.3428G>C	c.(3427-3429)aGc>aCc	p.S1143T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1143						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGTGAGTGCTCATGGTGGA	0.532																																					p.S1143T		.											.	MXRA5-136	0			c.G3428C						.						109	99	102					X																	3240298		2203	4300	6503	SO:0001583	missense	25878	exon5			TGAGTGCTCATGG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3428G>C	X.37:g.3240298C>G	ENSP00000217939:p.Ser1143Thr	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	119	55	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.730264	0.00687	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61980	0.06	3.31	0.902	0.19290	.	1.510850	0.04597	N	0.397886	T	0.26738	0.0654	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	10	0.06891	T	0.86	.	2.1143	0.03710	0.3753:0.3272:0.2975:0.0	.	1143	Q9NR99	MXRA5_HUMAN	T	1143	ENSP00000217939:S1143T	ENSP00000217939:S1143T	S	-	2	0	MXRA5	3250298	0.753000	0.28349	0.014000	0.15608	0.007000	0.05969	1.048000	0.30379	0.417000	0.25871	-0.286000	0.09958	AGC	.		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		G	3240298	C	G	3240298	3	3	45	1	0	0	0	0	1	0	0	0	10041	797	28	3	5070	3	MXRA5	23	3240298	Missense_Mutation	SNP	C	TCGA-OR-A5L5-01A-11D-A29I-10		3240298	152030262	120	9746											
SPRY3	10251	bcgsc.ca	37	chrX	155004280	155004280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctccatctgtgccaAcagggctatgatagcctccg	11	13	1	1			TCGA-OR-A5L5-01A-11D-A29I-10	TCGA-OR-A5L5-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ca5ac644-7d21-424b-b263-9600662fc544	ff435c22-e07f-452a-a289-d9e494094897	g.chrX:155004280A>G	ENST00000302805.2	+	2	1178	c.747A>G	c.(745-747)caA>caG	p.Q249Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	249	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTGTGCCAACAGGGCTATG	0.592													A|||	970	0.19369	0.2489	0.1744	5008	,	,		20237	0.0179		0.2992	False		,,,				2504	0.2055				p.Q249Q		.											.	SPRY3-136	0			c.A747G						.	A		1040,3366		132,776,1295	207	192	197		747	2	1	X	dbSNP_134	197	2390,6202		328,1734,2234	no	coding-synonymous	SPRY3	NM_005840.1		460,2510,3529	GG,GA,AA		27.8166,23.6042,26.3887		249/289	155004280	3430,9568	2203	4296	6499	SO:0001819	synonymous_variant	10251	exon2			GTGCCAACAGGGC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.747A>G	X.37:g.155004280A>G		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	156	6	NM_005840	0	0	0	0	0	A8K0H8	Silent	SNP	ENST00000302805.2	37	CCDS14769.4																																																																																			A|0.771;G|0.229		0.592	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		G	155004280	A	G	155004280	2	3	45	1	0	0	0	0	0	0	0	1	15154	40	2	4		4	SPRY3	23	155004280	Silent	SNP	A	TCGA-OR-A5L5-01A-11D-A29I-10	151763982	155004280	266280	121	9747											
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	44057031	44057031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaacggcctggtgcggggAtaccgcgtctactatactcc	11	15	1	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:44057031A>G	ENST00000359947.4	+	9	1678	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G	PTPRF_ENST00000372413.3_Silent_p.G446G|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Silent_p.G446G|PTPRF_ENST00000438120.1_Silent_p.G446G	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	446	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGCGGGGATACCGCGTCT	0.711																																					p.G446G		.											.	PTPRF-232	0			c.A1338G						.						11	10	11					1																	44057031		2118	4180	6298	SO:0001819	synonymous_variant	5792	exon9			GCGGGGATACCGC	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.1338A>G	1.37:g.44057031A>G		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	72	18	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.746|0.746	-0.774735|-0.774735	0.02951|0.02951	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568	.|.	.|.	.|.	5.38|5.38	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.47021|0.47021	0.1423|0.1423	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60234|0.60234	-0.7303|-0.7303	4|4	.|.	.|.	.|.	.|.	9.9676|9.9676	0.41734|0.41734	0.0807:0.544:0.3133:0.0621|0.0807:0.544:0.3133:0.0621	.|.	.|.	.|.	.|.	G|V	103|114	.|.	.|.	D|I	+|+	2|1	0|0	PTPRF|PTPRF	43829618|43829618	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.006000|0.006000	0.05464|0.05464	-2.517000|-2.517000	0.00954|0.00954	-2.486000|-2.486000	0.00520|0.00520	-1.247000|-1.247000	0.01520|0.01520	GAT|ATA	.		0.711	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44057031	A	G	44057031	2	3	46	1	0	0	0	0	0	0	0	1	12846	320	12	4		4	PTPRF	1	44057031	Silent	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10		44057031	205193590	1	9748											
TCTEX1D4	343521	hgsc.bcm.edu	37	chr1	45271828	45271828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcaccacactgcaTaccagcttgtagcgtggcgg	12	15	0	0	rs17885815	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6	9	8		513	5.5	1	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_001013632	0	0	0	0	0		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		C	45271828	T	C	45271828	2	2	46	1	0	0	0	0	0	0	0	1	15768	1393	49	4		4	TCTEX1D4	1	45271828	Silent	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	1214797	45271828	203978793	2	9749											
JAK1	3716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	65321267	65321267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatctgcttcttgaggtGgctcatgaggtctcccaagc	12	11	4	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:65321267G>A	ENST00000342505.4	-	11	1821	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	525	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCTTGAGGTGGCTCATGAGG	0.582			Mis		ALL																																p.H525Y		.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1-3900	0			c.C1573T						.						64	69	67					1																	65321267		2096	4219	6315	SO:0001583	missense	3716	exon11			TGAGGTGGCTCAT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1573C>T	1.37:g.65321267G>A	ENSP00000343204:p.His525Tyr	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	107	15	NM_002227	0	0	3	3	0	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247757	0.80024	.	.	ENSG00000162434	ENST00000342505	T	0.42513	0.97	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.38161	0.1030	L	0.41824	1.3	0.58432	D	0.999997	D	0.69078	0.997	D	0.75484	0.986	T	0.22487	-1.0215	9	0.02654	T	1	-6.3763	17.4424	0.87568	0.0:0.0:1.0:0.0	.	525	P23458	JAK1_HUMAN	Y	525	ENSP00000343204:H525Y	ENSP00000343204:H525Y	H	-	1	0	JAK1	65093855	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.290000	0.59019	2.519000	0.84933	0.655000	0.94253	CAC	.		0.582	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		A	65321267	G	A	65321267	3	1	46	1	0	0	0	0	1	0	0	0	7964	1348	47	3	1951	3	JAK1	1	65321267	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	20049439	65321267	183929354	3	9750											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	13	11	3	4	rs112145355		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q		.											.	OVGP1-135	0			c.G1590A						.						59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1590G>A	1.37:g.111957533C>T		Somatic	51	1		WXS	Illumina GAIIx	Phase_I	35	21	NM_002557	0	0	0	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																			C|0.500;T|0.500		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111957533	C	T	111957533	2	4	46	1	0	0	0	0	0	0	0	1	11364	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	46636266	111957533	137293088	4	9751											
KPRP	448834	broad.mit.edu	37	chr1	152733496	152733496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccttgtccacgaccagagCcaattcccctgccggcgccc	9	19	0	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:152733496C>A	ENST00000606109.1	+	1	1460	c.1432C>A	c.(1432-1434)Cca>Aca	p.P478T	KPRP_ENST00000368773.1_Missense_Mutation_p.P478T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	478	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGACCAGAGCCAATTCCCCT	0.672																																					p.P478T		.											.	KPRP-95	0			c.C1432A						.						76	81	79					1																	152733496		2203	4300	6503	SO:0001583	missense	448834	exon2			CCAGAGCCAATTC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1432C>A	1.37:g.152733496C>A	ENSP00000475216:p.Pro478Thr	Somatic	43	2		WXS	Illumina GAIIx	Phase_I	53	4	NM_001025231	0	0	0	0	0		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122653	0.94429	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.61	4.61	0.57282	.	0.000000	0.48286	D	0.000191	T	0.24470	0.0593	L	0.54323	1.7	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.72032	D	0.01	-7.9264	15.329	0.74190	0.0:1.0:0.0:0.0	.	478	Q5T749	KPRP_HUMAN	T	478	ENSP00000357762:P478T	ENSP00000357762:P478T	P	+	1	0	KPRP	151000120	0.970000	0.33590	0.729000	0.30791	0.513000	0.34164	3.805000	0.55575	2.555000	0.86185	0.462000	0.41574	CCA	.		0.672	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733496	C	A	152733496	3	1	46	1	0	0	0	0	1	0	0	0	8463	739	26	3	1434	3	KPRP	1	152733496	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	40775963	152733496	96517125	5	9752											
F5	2153	broad.mit.edu;bcgsc.ca	37	chr1	169510485	169510485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctagagaaagggttgtatgGctgaggtctggagaaagggg	18	3	2	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:169510485G>T	ENST00000367797.3	-	13	4044	c.3843C>A	c.(3841-3843)agC>agA	p.S1281R	F5_ENST00000367796.3_Missense_Mutation_p.S1286R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1281	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGTTGTATGGCTGAGGTCTG	0.507																																					p.S1281R		.											.	F5-157	0			c.C3843A						.						211	227	222					1																	169510485		2203	4300	6503	SO:0001583	missense	2153	exon13			TGTATGGCTGAGG	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.3843C>A	1.37:g.169510485G>T	ENSP00000356771:p.Ser1281Arg	Somatic	383	1		WXS	Illumina GAIIx	Phase_I	318	11	NM_000130	0	0	0	0	0	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532129	0.27387	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33865	1.39;1.39	4.29	-8.58	0.00897	.	1.782280	0.02277	N	0.069022	T	0.07683	0.0193	L	0.38175	1.15	0.19575	N	0.999964	B	0.11235	0.004	B	0.09377	0.004	T	0.05903	-1.0857	9	0.16896	T	0.51	.	8.0566	0.30608	0.457:0.1849:0.358:0.0	.	1281	P12259	FA5_HUMAN	R	1281;1286	ENSP00000356771:S1281R;ENSP00000356770:S1286R	ENSP00000356770:S1286R	S	-	3	2	F5	167777109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.035000	0.03564	-2.187000	0.00759	-1.708000	0.00717	AGC	.		0.507	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169510485	G	T	169510485	3	4	46	1	0	0	0	0	1	0	0	0	5364	1194	42	3	2883	3	F5	1	169510485	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	16776989	169510485	79740136	6	9753											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	46	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	9540815	179051300	70199321	7	9754											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186047340	186047340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagattcccttcaatatgatGtccgtgtactcggtgagttt	9	8	1	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:186047340G>A	ENST00000271588.4	+	55	8816	c.8587G>A	c.(8587-8589)Gtc>Atc	p.V2863I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2863I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2863	Ig-like C2-type 26.				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						TCAATATGATGTCCGTGTACT	0.413																																					p.V2863I		.											.	HMCN1-113	0			c.G8587A						.						239	222	228					1																	186047340		2203	4300	6503	SO:0001583	missense	83872	exon55			TATGATGTCCGTG	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.8587G>A	1.37:g.186047340G>A	ENSP00000271588:p.Val2863Ile	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	118	22	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489239	0.26686	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79033	-1.23;-1.23	5.5	0.951	0.19579	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.237506	0.42420	N	0.000702	T	0.67316	0.2880	L	0.43152	1.355	0.48901	D	0.999729	B	0.11235	0.004	B	0.19148	0.024	T	0.58222	-0.7674	10	0.30078	T	0.28	.	11.2005	0.48739	0.3175:0.0:0.6825:0.0	.	2863	Q96RW7	HMCN1_HUMAN	I	2863	ENSP00000271588:V2863I;ENSP00000356462:V2863I	ENSP00000271588:V2863I	V	+	1	0	HMCN1	184313963	1.000000	0.71417	0.960000	0.40013	0.310000	0.27922	3.506000	0.53364	0.291000	0.22468	0.655000	0.94253	GTC	.		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186047340	G	A	186047340	3	1	46	1	0	0	0	0	1	0	0	0	7247	1377	48	3	8805	3	HMCN1	1	186047340	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	6996040	186047340	63203281	8	9755											
TMEM206	55248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	212560297	212560297	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagggtgcttgagtttctcAcgaaagtctgtgatggtccg	13	8	2	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:212560297A>T	ENST00000261455.4	-	3	416	c.279T>A	c.(277-279)cgT>cgA	p.R93R	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Silent_p.R154R	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	93						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGAGTTTCTCACGAAAGTCTG	0.557																																					p.R154R		.											.	TMEM206-153	0			c.T462A						.						175	163	167					1																	212560297		2203	4300	6503	SO:0001819	synonymous_variant	55248	exon4			TTTCTCACGAAAG	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.279T>A	1.37:g.212560297A>T		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	167	11	NM_001198862	0	0	0	0	0	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																			.		0.557	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		T	212560297	A	T	212560297	2	4	46	1	0	0	0	0	0	0	0	1	16178	146	6	5		5	TMEM206	1	212560297	Silent	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	26512957	212560297	36690324	9	9756											
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	244583531	244583531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccaagattttctttggtggtCcatgtagggcctcatataga	10	8	2	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:244583531C>G	ENST00000366535.3	-	8	1047	c.731G>C	c.(730-732)gGa>gCa	p.G244A	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CTTTGGTGGTCCATGTAGGGC	0.353																																					p.G244A		.											.	ADSS-229	0			c.G731C						.						137	128	131					1																	244583531		2202	4300	6502	SO:0001583	missense	159	exon8			GGTGGTCCATGTA	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.731G>C	1.37:g.244583531C>G	ENSP00000355493:p.Gly244Ala	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	50	14	NM_001126	0	0	1	1	0		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399875	0.42613	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.38887	1.11	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	N	0.10733	0.035	0.80722	D	1	B	0.30605	0.287	B	0.32465	0.146	T	0.10753	-1.0616	10	0.05351	T	0.99	-17.2564	20.0627	0.97684	0.0:1.0:0.0:0.0	.	244	P30520	PURA2_HUMAN	A	244;223	ENSP00000355493:G244A	ENSP00000355493:G244A	G	-	2	0	ADSS	242650154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.752000	0.85141	2.807000	0.96579	0.591000	0.81541	GGA	.		0.353	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		G	244583531	C	G	244583531	3	3	46	1	0	0	0	0	1	0	0	0	347	855	30	3	663	3	ADSS	1	244583531	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	32023234	244583531	4667090	10	9757											
KHK	3795	bcgsc.ca	37	chr2	27315252	27315252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgtccaactcctgcaccGttctctccctgctcggagcc	8	19	1	0	rs2304681	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:27315252G>A	ENST00000260599.6	+	2	658	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.V49I	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	49			V -> I (in dbSNP:rs2304681). {ECO:0000269|PubMed:7833921}.		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)					CTCCTGCACCGTTCTCTCCCT	0.632													G|||	1660	0.33147	0.3033	0.5043	5008	,	,		19742	0.2312		0.3767	False		,,,				2504	0.3037				p.V49I		.											.	KHK-115	0			c.G145A						.	G	ILE/VAL,ILE/VAL	1399,3007	459.0+/-352.1	230,939,1034	76	63	67		145,145	2.7	0	2	dbSNP_100	67	3231,5369	486.6+/-371.9	622,1987,1691	yes	missense,missense	KHK	NM_000221.2,NM_006488.2	29,29	852,2926,2725	AA,AG,GG		37.5698,31.7522,35.599	benign,benign	49/299,49/299	27315252	4630,8376	2203	4300	6503	SO:0001583	missense	3795	exon2			TGCACCGTTCTCT		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.145G>A	2.37:g.27315252G>A	ENSP00000260599:p.Val49Ile	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	77	5	NM_006488	0	0	1	1	0	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	745	0.3411172161172161	156	0.3170731707317073	172	0.47513812154696133	150	0.26223776223776224	267	0.35224274406332456	G	19.83	3.900193	0.72754	0.317522	0.375698	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.77877	-1.13;-1.13;-1.13	5.5	2.71	0.32032	Carbohydrate/purine kinase (1);	0.183501	0.47852	N	0.000205	T	0.00012	0.0000	M	0.69185	2.1	0.24585	P	0.99385471	B;P;B	0.35821	0.045;0.523;0.045	B;B;B	0.32393	0.012;0.145;0.012	T	0.43734	-0.9373	9	0.18710	T	0.47	-18.5598	7.773	0.29019	0.336:0.0:0.664:0.0	rs2304681;rs13006404;rs17845083;rs17847238;rs17857867;rs57123139;rs2304681	49;49;49	Q6IBK2;P50053-2;P50053	.;.;KHK_HUMAN	I	49	ENSP00000260599:V49I;ENSP00000260598:V49I;ENSP00000404741:V49I	ENSP00000260598:V49I	V	+	1	0	KHK	27168756	1.000000	0.71417	0.013000	0.15412	0.966000	0.64601	4.090000	0.57693	0.701000	0.31803	0.462000	0.41574	GTT	G|0.648;A|0.352		0.632	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			A	27315252	G	A	27315252	3	1	46	1	0	0	0	0	1	0	0	0	8176	1145	40	1	151	1	KHK	2	27315252	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		27315252	215884121	11	9758											
FEZ2	9637	hgsc.bcm.edu	37	chr2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccaagctgcaggccGgggccgggaaaccgtcggcg	15	15	1	0	rs1544655	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:36825137G>A	ENST00000405912.3	-	1	148	c.149C>T	c.(148-150)cCg>cTg	p.P50L	FEZ2_ENST00000379245.4_Missense_Mutation_p.P50L	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	50			P -> L (in dbSNP:rs1544655). {ECO:0000269|PubMed:10931946}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTGCAGGCCGGGGCCGGGAA	0.761													A|||	4355	0.869609	0.9039	0.8372	5008	,	,		3879	0.9881		0.7435	False		,,,				2504	0.8538				p.P50L		.											.	FEZ2-23	0			c.C149T						.						2	3	3					2																	36825137		1191	2916	4107	SO:0001583	missense	9637	exon1			CAGGCCGGGGCCG	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.149C>T	2.37:g.36825137G>A	ENSP00000385112:p.Pro50Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001042548	0	0	0	0	0	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1789	0.8191391941391941	416	0.8455284552845529	284	0.7845303867403315	557	0.9737762237762237	532	0.7018469656992085	A	9.679	1.148856	0.21288	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.16897	2.31;2.31	3.93	3.93	0.45458	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00121	-2.07	0.09310	P	0.9999999999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32025	-0.9922	9	0.02654	T	1	-21.1042	7.5473	0.27775	0.8952:0.0:0.1048:0.0	rs1544655	50;50;50	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	L	50	ENSP00000368547:P50L;ENSP00000385112:P50L	ENSP00000368547:P50L	P	-	2	0	FEZ2	36678641	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	0.606000	0.24194	0.590000	0.29694	-0.775000	0.03384	CCG	T|0.817;C|0.180		0.761	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			A	36825137	G	A	36825137	3	1	46	1	0	0	0	0	1	0	0	0	5846	1116	39	1	1029	1	FEZ2	2	36825137	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	9509885	36825137	206374236	12	9759											
MKI67IP	84365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	122493289	122493289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttaggtaggtggcgcacaTagactactccaggagtaagt	14	7	0	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:122493289T>C	ENST00000285814.4	-	2	215	c.143A>G	c.(142-144)tAt>tGt	p.Y48C		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		48	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GTGGCGCACATAGACTACTCC	0.388																																					p.Y48C		.											.	MKI67IP-90	0			c.A143G						.						109	102	104					2																	122493289		2203	4300	6503	SO:0001583	missense	84365	exon2			CGCACATAGACTA																												ENST00000285814.4:c.143A>G	2.37:g.122493289T>C	ENSP00000285814:p.Tyr48Cys	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	47	12	NM_032390	0	0	1	2	1	A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911886	0.33721	.	.	ENSG00000155438	ENST00000285814;ENST00000409201	T	0.20332	2.08	4.28	1.68	0.24146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.107789	0.64402	D	0.000003	T	0.44932	0.1317	H	0.96239	3.79	0.52099	D	0.999945	P;P	0.37398	0.593;0.473	P;B	0.47786	0.557;0.28	T	0.40979	-0.9534	10	0.87932	D	0	-8.8057	7.0282	0.24952	0.3239:0.0:0.0:0.6761	.	48;48	B4DSM4;Q9BYG3	.;MK67I_HUMAN	C	48	ENSP00000285814:Y48C	ENSP00000285814:Y48C	Y	-	2	0	MKI67IP	122209759	1.000000	0.71417	0.923000	0.36655	0.018000	0.09664	2.848000	0.48278	0.110000	0.17919	0.459000	0.35465	TAT	.		0.388	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			C	122493289	T	C	122493289	3	2	46	1	0	0	0	0	1	0	0	0	9637	1406	49	4	762	4	MKI67IP	2	122493289	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	85668152	122493289	120706084	13	9760											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152382545	152382545	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgttgtgtatgagcccTgtgccaagtgcttcttgaca	12	8	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:152382545T>A	ENST00000172853.10	-	122	17132	c.16985A>T	c.(16984-16986)cAg>cTg	p.Q5662L	NEB_ENST00000397345.3_Missense_Mutation_p.Q7363L|NEB_ENST00000409198.1_Missense_Mutation_p.Q5662L|NEB_ENST00000427231.2_Missense_Mutation_p.Q7363L|NEB_ENST00000604864.1_Missense_Mutation_p.Q7363L|NEB_ENST00000603639.1_Missense_Mutation_p.Q7363L			P20929	NEBU_HUMAN	nebulin	5662					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)		GTATGAGCCCTGTGCCAAGTG	0.522																																					p.Q7398L		.											.	NEB-145	0			c.A22193T						.						319	309	313					2																	152382545		2015	4178	6193	SO:0001583	missense	4703	exon151			GAGCCCTGTGCCA	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.16985A>T	2.37:g.152382545T>A	ENSP00000172853:p.Gln5662Leu	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	211	44	NM_001271208	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.077657	0.76528	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06768	3.37;3.38;3.39;3.26;3.37	6.07	6.07	0.98685	.	0.353924	0.33515	N	0.004827	T	0.15869	0.0382	L	0.29908	0.895	0.80722	D	1	B;P;P	0.51933	0.354;0.841;0.949	B;P;D	0.63381	0.119;0.583;0.914	T	0.04115	-1.0976	10	0.34782	T	0.22	.	12.4449	0.55645	0.0:0.0666:0.0:0.9334	.	5662;7363;2093	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	L	5662;7363;7363;1711;2093;5662	ENSP00000386259:Q5662L;ENSP00000380505:Q7363L;ENSP00000416578:Q7363L;ENSP00000410961:Q2093L;ENSP00000172853:Q5662L	ENSP00000172853:Q5662L	Q	-	2	0	NEB	152090791	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.600000	0.54052	2.326000	0.78906	0.533000	0.62120	CAG	.		0.522	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152382545	T	A	152382545	3	1	46	1	0	0	0	0	1	0	0	0	10341	1580	55	5	3621	5	NEB	2	152382545	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	29889256	152382545	90816828	14	9761											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu	37	chr2	168099448	168099448	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagaaaaaacttagaaaaaGattatatcagtgaagtttct	6	3	2	4			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:168099448G>T	ENST00000409195.1	+	9	1635	c.1546G>T	c.(1546-1548)Gat>Tat	p.D516Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D516Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D294Y|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	341					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						CTTAGAAAAAGATTATATCAG	0.348																																					p.D516Y		.											.	XIRP2-104	0			c.G1546T						.						26	25	25					2																	168099448		1798	4059	5857	SO:0001583	missense	129446	exon9			GAAAAAGATTATA	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.1546G>T	2.37:g.168099448G>T	ENSP00000386840:p.Asp516Tyr	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_152381	0	0	0	0	0	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	11.64	1.698949	0.30142	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02787	4.16;4.16;4.16	5.54	3.62	0.41486	.	0.391455	0.26638	N	0.023266	T	0.07052	0.0179	L	0.40543	1.245	0.47547	D	0.999453	B;B;D	0.58970	0.076;0.125;0.984	B;B;P	0.58172	0.042;0.091;0.834	T	0.23511	-1.0186	10	0.66056	D	0.02	-9.5206	11.4064	0.49900	0.0:0.2505:0.6205:0.129	.	341;341;294	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	516;516;294	ENSP00000386840:D516Y;ENSP00000295237:D516Y;ENSP00000387255:D294Y	ENSP00000295237:D516Y	D	+	1	0	XIRP2	167807694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	1.332000	0.45431	0.655000	0.94253	GAT	.		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168099448	G	T	168099448	3	4	46	1	0	0	0	0	1	0	0	0	17479	942	33	3	1576	3	XIRP2	2	168099448	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	15716903	168099448	75099925	15	9762											
C2orf83	56918	broad.mit.edu;ucsc.edu	37	chr2	228477731	228477731	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaccatcacaagggagggGgcagttctacaggtgaagcc	14	9	2	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:228477731G>T	ENST00000264387.4	-	3	277				C2orf83_ENST00000409066.1_Silent_p.A70A	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83						transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CAAGGGAGGGGGCAGTTCTAC	0.547																																					p.A70A		.											.	C2orf83-90	0			c.C210A						.						42	38	39					2																	228477731		692	1591	2283	SO:0001627	intron_variant	56918	exon3			GGAGGGGGCAGTT		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.191-1359C>A	2.37:g.228477731G>T		Somatic	35	1		WXS	Illumina GAIIx	Phase_I	39	4	NM_001162483	0	0	0	0	0	A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	CCDS33388.1																																																																																			.		0.547	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		T	228477731	G	T	228477731	1	4	46	0	1	0	0	0	0	0	0	0	2205	1219	43	3		3	C2orf83	2	228477731	Intron	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	60378283	228477731	14721642	16	9763											
PID1	55022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	229890685	229890685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaaacttggaatggcCggatttccaggagggcattg	15	8	0	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:229890685C>T	ENST00000354069.6	-	3	446	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	PID1_ENST00000392055.3_Missense_Mutation_p.R106Q|PID1_ENST00000392054.3_Missense_Mutation_p.R137Q|PID1_ENST00000409462.1_Missense_Mutation_p.R57Q|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TTGGAATGGCCGGATTTCCAG	0.567																																					p.R137Q		.											.	PID1-94	0			c.G410A						.						96	93	94					2																	229890685		2203	4300	6503	SO:0001583	missense	55022	exon4			AATGGCCGGATTT	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.416G>A	2.37:g.229890685C>T	ENSP00000283937:p.Arg139Gln	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	183	67	NM_017933	0	0	1	1	0	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.518463	0.85495	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.46	5.46	0.80206	Pleckstrin homology-type (1);	0.124895	0.56097	D	0.000030	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	0.994;0.994;1.0;0.999	P;P;D;D	0.83275	0.901;0.901;0.996;0.994	T	0.64706	-0.6344	8	.	.	.	-10.0864	18.6482	0.91419	0.0:1.0:0.0:0.0	.	57;106;137;139	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Q	137;57;106;139;139	.	.	R	-	2	0	PID1	229598929	1.000000	0.71417	0.969000	0.41365	0.948000	0.59901	7.276000	0.78559	2.721000	0.93114	0.655000	0.94253	CGG	.		0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		T	229890685	C	T	229890685	3	4	46	1	0	0	0	0	1	0	0	0	11921	652	23	1	340	1	PID1	2	229890685	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	1412954	229890685	13308688	17	9764											
UGT1A5	54579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234621931	234621931	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttgctgggtcacactcaAtcgttctttgaaacagaaca	7	10	3	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:234621931A>T	ENST00000373414.3	+	1	294	c.294A>T	c.(292-294)caA>caT	p.Q98H	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.Q98H|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	98						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GTCACACTCAATCGTTCTTTG	0.383																																					p.Q98H		.											.	UGT1A5-3	0			c.A294T						.						118	113	115					2																	234621931		2203	4300	6503	SO:0001583	missense	54579	exon1			CACTCAATCGTTC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.294A>T	2.37:g.234621931A>T	ENSP00000362513:p.Gln98His	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	153	27	NM_019078	0	0	0	0	0	B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	5.754	0.323557	0.10900	.	.	ENSG00000240224	ENST00000373414	T	0.59772	0.24	4.3	-6.82	0.01698	.	1.555230	0.03296	N	0.188301	T	0.24236	0.0587	N	0.03224	-0.385	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.15122	-1.0448	10	0.10636	T	0.68	.	2.0937	0.03663	0.3579:0.2822:0.0689:0.291	.	98;98	Q5DSZ9;P35504	.;UD15_HUMAN	H	98	ENSP00000362513:Q98H	ENSP00000362513:Q98H	Q	+	3	2	UGT1A5	234286670	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.554000	0.00114	-0.755000	0.04709	0.449000	0.29647	CAA	.		0.383	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		T	234621931	A	T	234621931	3	4	46	1	0	0	0	0	1	0	0	0	16997	98	4	5	296	5	UGT1A5	2	234621931	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	4731246	234621931	8577442	18	9765											
ESPNL	339768	hgsc.bcm.edu	37	chr2	239009336	239009336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggctggtccgcgaGgggggctgcggtctgcaggt	20	10	1	0	rs61744770	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:239009336G>A	ENST00000343063.3	+	1	539	c.276G>A	c.(274-276)gaG>gaA	p.E92E	ESPNL_ENST00000409169.1_Silent_p.E92E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	92										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGTCCGCGAGGGGGGCTGCG	0.721													G|||	1076	0.214856	0.0325	0.3012	5008	,	,		12159	0.1359		0.4761	False		,,,				2504	0.2127				p.E92E		.											.	ESPNL-69	0			c.G276A						.	G		217,3027		15,187,1420	2	3	3		276	-8.2	0	2	dbSNP_129	3	2420,4680		417,1586,1547	no	coding-synonymous	ESPNL	NM_194312.2		432,1773,2967	AA,AG,GG		34.0845,6.6893,25.493		92/1006	239009336	2637,7707	1622	3550	5172	SO:0001819	synonymous_variant	339768	exon1			CCGCGAGGGGGGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.276G>A	2.37:g.239009336G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_194312	0	0	0	0	0	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.739;A|0.261		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239009336	G	A	239009336	2	1	46	1	0	0	0	0	0	0	0	1	5271	991	35	3		3	ESPNL	2	239009336	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	4387405	239009336	4190037	19	9766											
C3orf54	7318	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49842192	49842192	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggagtgaagggggtgaCggaggtgggcaccgtgcccg	21	8	0	2	rs146996587	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:49842192C>T	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.D212D	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGGGGTGACGGAGGTGGGC	0.662													C|||	2	0.000399361	8e-04	0	5008	,	,		19810	0.001		0	False		,,,				2504	0				p.D212D		.											.	.	0			c.C636T						.	C		1,4405	2.1+/-5.4	0,1,2202	78	80	79		636	-11.3	0	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3orf54	NM_203370.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		212/288	49842192	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	389119	exon2			GGGTGACGGAGGT	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842192C>T		Somatic	209	1		WXS	Illumina GAIIx	Phase_I	155	56	NM_203370	0	0	2	2	0	Q9BRB2	Silent	SNP	ENST00000333486.3	37	CCDS2805.1																																																																																			C|0.999;T|0.000		0.662	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49842192	C	T	49842192	1	4	46	0	1	0	0	0	0	0	0	0	2240	535	19	1		1	C3orf54	3	49842192	IGR	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		49842192	148180238	20	9767											
ITIH1	3697	bcgsc.ca	37	chr3	52824813	52824813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggtggtgtctgtggaCgacggtggcacctttgaggt	16	8	1	1	rs146607393	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:52824813C>T	ENST00000273283.2	+	20	2394	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	ITIH1_ENST00000405128.3_Silent_p.D156D|ITIH1_ENST00000540715.1_Silent_p.D648D|ITIH1_ENST00000537050.1_Silent_p.D502D|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	790	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTCTGTGGACGACGGTGGCA	0.597													C|||	2	0.000399361	0	0	5008	,	,		19822	0.002		0	False		,,,				2504	0				p.D790D		.											.	ITIH1-93	0			c.C2370T						.	C	,,,	0,4406		0,0,2203	195	159	171		1944,1506,1506,2370	-11.5	0	3	dbSNP_134	171	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	648/770,502/624,502/624,790/912	52824813	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3697	exon20			TGTGGACGACGGT		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.2370C>T	3.37:g.52824813C>T		Somatic	256	1		WXS	Illumina GAIIx	Phase_I	245	7	NM_002215	0	0	0	0	0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																			C|1.000;T|0.000		0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52824813	C	T	52824813	2	4	46	1	0	0	0	0	0	0	0	1	7930	535	19	1		1	ITIH1	3	52824813	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	2982621	52824813	145197617	21	9768											
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164748583	164748583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acaattaaatctttcattttCtgagaaaatttgattccatt	3	6	3	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:164748583C>G	ENST00000264382.3	-	25	2871	c.2809G>C	c.(2809-2811)Gaa>Caa	p.E937Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	937	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	CTTTCATTTTCTGAGAAAATT	0.313										HNSCC(35;0.089)																											p.E937Q		.											.	SI-104	0			c.G2809C						.						64	69	67					3																	164748583		2202	4295	6497	SO:0001583	missense	6476	exon25			CATTTTCTGAGAA	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.2809G>C	3.37:g.164748583C>G	ENSP00000264382:p.Glu937Gln	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	147	29	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167192	0.57476	.	.	ENSG00000090402	ENST00000264382	T	0.14266	2.52	4.94	1.98	0.26296	P-type trefoil (4);	0.875776	0.10174	N	0.706797	T	0.21921	0.0528	M	0.61703	1.905	0.09310	N	1	P	0.41188	0.741	P	0.50708	0.648	T	0.16217	-1.0410	10	0.45353	T	0.12	.	4.6211	0.12450	0.1576:0.6018:0.1529:0.0877	.	937	P14410	SUIS_HUMAN	Q	937	ENSP00000264382:E937Q	ENSP00000264382:E937Q	E	-	1	0	SI	166231277	0.000000	0.05858	0.025000	0.17156	0.467000	0.32768	0.202000	0.17295	1.264000	0.44198	0.655000	0.94253	GAA	.		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164748583	C	G	164748583	3	3	46	1	0	0	0	0	1	0	0	0	14342	922	32	3	2770	3	SI	3	164748583	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	111923770	164748583	33273847	22	9769											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388726	1388726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgcccaTgcggagtgcccgcctgctca	11	18	2	0	rs199689156	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:1388726T>C	ENST00000324803.4	+	1	3387	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697																																					p.C143R		.											.	CRIPAK-90	0			c.T427C						.						38	37	37					4																	1388726		1908	3685	5593	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.427T>C	4.37:g.1388726T>C	ENSP00000323978:p.Cys143Arg	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	146	19	NM_175918	0	0	1	1	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.608|8.608	0.888529|0.888529	0.17540|0.17540	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	0.948|0.948	-0.668|-0.668	0.11392|0.11392	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.27594|.	0.182|.	B|.	0.13407|.	0.009|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|6	0.51188|0.06365	T|T	0.08|0.9	.|.	4.4755|4.4755	0.11733|0.11733	0.0:0.2357:0.0:0.7643|0.0:0.2357:0.0:0.7643	.|.	143|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	143|126	ENSP00000323978:C143R|.	ENSP00000323978:C143R|ENSP00000372402:M126T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378726|1378726	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.703000|-0.703000	0.05063|0.05063	-0.155000|-0.155000	0.11098|0.11098	0.102000|0.102000	0.15555|0.15555	TGC|ATG	T|0.980;C|0.020		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388726	T	C	1388726	3	2	46	1	0	0	0	0	1	0	0	0	3884	1464	51	4	429	4	CRIPAK	4	1388726	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10		1388726	189765550	23	9770											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	19	17	NM_175918	0	0	6	9	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	46	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	248	1388974	189765302	24	9771											
DSPP	1834	bcgsc.ca	37	chr4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgatagcagtgaCagcagtgacagcagcgacag	14	9	0	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	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)		atagcagtgacagcagtgaca	0.542																																					p.D1071E		.											.	DSPP-90	0			c.C3213A						.						56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu	Somatic	340	1		WXS	Illumina GAIIx	Phase_I	488	26	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC	.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537027	C	A	88537027	3	1	46	1	0	0	0	0	1	0	0	0	4796	477	17	3	3227	3	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	87148053	88537027	102617249	25	9772											
DSPP	1834	ucsc.edu	37	chr4	88537081	88537081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcagtgatagcagtgaCagcagcaatagcagtgacag	13	7	0	3	rs367717407|rs370267258	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1089D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		.											.	DSPP-90	0			c.C3267T						.	C		1383,707		577,229,239	19	24	22		3267	0.6	0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		Somatic	143	2		WXS	Illumina GAIIx	Phase_I	194	67	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537081	C	T	88537081	2	4	46	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537081	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	54	88537081	102617195	26	9773											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	114244940	114244940	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctctccatgtcttgaacgtGacaacagcaggtgaactact	8	12	2	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:114244940G>T	ENST00000357077.4	+	26	2953				ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Missense_Mutation_p.D955Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						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)		TCTTGAACGTGACAACAGCAG	0.453																																					p.D955Y		.											.	ANK2-583	0			c.G2863T						.						101	89	92					4																	114244940		1568	3582	5150	SO:0001627	intron_variant	287	exon28			GAACGTGACAACA	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.2900+5164G>T	4.37:g.114244940G>T		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	161	27	NM_001127493	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	9.084	0.999974	0.19121	.	.	ENSG00000145362	ENST00000506722;ENST00000343056	T	0.66280	-0.2	5.53	5.53	0.82687	.	.	.	.	.	T	0.67795	0.2931	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72937	-0.4140	9	0.59425	D	0.04	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	955	Q01484-5	.	Y	955	ENSP00000421067:D955Y	ENSP00000340561:D955Y	D	+	1	0	ANK2	114464389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.096000	0.94182	2.587000	0.87381	0.563000	0.77884	GAC	.		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114244940	G	T	114244940	1	4	46	0	1	0	0	0	0	0	0	0	621	1290	45	3		3	ANK2	4	114244940	Intron	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	25707859	114244940	76909336	27	9774											
WDR17	116966	bcgsc.ca	37	chr4	177061126	177061126	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagtgatggtttctgGtaagtactatgtatgataca	11	5	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:177061126G>T	ENST00000280190.4	+	11	1670		c.e11+1		WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site|WDR17_ENST00000393643.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATGGTTTCTGGTAAGTACTAT	0.338																																					.		.											.	WDR17-95	0			c.1442+1G>T						.						135	150	145					4																	177061126		2203	4299	6502	SO:0001630	splice_region_variant	116966	exon10			TTTCTGGTAAGTA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1514+1G>T	4.37:g.177061126G>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_181265	0	0	0	0	0	E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264044	0.80358	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6404	0.95755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177298120	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.160000	0.94734	2.712000	0.92718	0.591000	0.81541	.	.		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron	T	177061126	G	T	177061126	5	4	46	1	0	0	0	0	0	0	1	0	17326	1275	44	3	1553	3	WDR17	4	177061126	Splice_Site	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	62816186	177061126	14093150	28	9775											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	46	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		6633779	174281481	29	9776											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	13913969	13913969	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcgtcggtgaaaagtttcGaattttccaaaaatatacat	8	6	0	1	rs373172723		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:13913969G>A	ENST00000265104.4	-	11	1523	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	473	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.F473F(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)					GAAAAGTTTCGAATTTTCCAA	0.373									Kartagener syndrome																												p.F473F		.											.	DNAH5-182	1	Substitution - coding silent(1)	kidney(1)	c.C1419T						.	G		0,4406		0,0,2203	110	116	114		1419	0.5	1	5		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH5	NM_001369.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		473/4625	13913969	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AGTTTCGAATTTT	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.1419C>T	5.37:g.13913969G>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	81	6	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13913969	G	A	13913969	2	1	46	1	0	0	0	0	0	0	0	1	4618	1049	37	1		1	DNAH5	5	13913969	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	7280190	13913969	167001291	30	9777											
CKMT2	1160	broad.mit.edu;bcgsc.ca	37	chr5	80550829	80550829	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatcacccaagggcagttCgacgagcattacgtgctgtc	11	12	1	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:80550829C>T	ENST00000424301.2	+	6	703	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.F155F|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Silent_p.F155F|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	155					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGGGCAGTTCGACGAGCATT	0.637																																					p.F155F		.											.	CKMT2-90	0			c.C465T						.						55	56	56					5																	80550829		2203	4300	6503	SO:0001819	synonymous_variant	1160	exon6			GCAGTTCGACGAG		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.465C>T	5.37:g.80550829C>T		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	347	10	NM_001825	0	0	7	7	0	Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	CCDS4053.1																																																																																			.		0.637	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		T	80550829	C	T	80550829	2	4	46	1	0	0	0	0	0	0	0	1	3458	883	31	1		1	CKMT2	5	80550829	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	66636860	80550829	100364431	31	9778											
GPR150	285601	hgsc.bcm.edu	37	chr5	94956619	94956619	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgcccgcgcctggccggggGagcgtcgctgccacgggatc	17	17	0	0	rs113272282	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:94956619G>C	ENST00000380007.2	+	1	838	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		ctggccgggggAGCGTCGCTG	0.776													G|||	694	0.138578	0.0234	0.1686	5008	,	,		7065	0.1468		0.2465	False		,,,				2504	0.1534				p.E214Q		.											.	GPR150-90	0			c.G640C						.	G	GLN/GLU	75,3147		0,75,1536	3	4	4		640	2	0	5	dbSNP_132	4	735,6191		30,675,2758	no	missense	GPR150	NM_199243.1	29	30,750,4294	CC,CG,GG		10.6122,2.3277,7.9819	benign	214/435	94956619	810,9338	1611	3463	5074	SO:0001583	missense	285601	exon1			CCGGGGGAGCGTC	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"GPCR / Class A : Orphans"	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.640G>C	5.37:g.94956619G>C	ENSP00000369344:p.Glu214Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	14	NM_199243	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380007.2	37	CCDS4074.1	341	0.15613553113553114	13	0.026422764227642278	59	0.16298342541436464	100	0.17482517482517482	169	0.22295514511873352	G	0.038	-1.297221	0.01364	0.023277	0.106122	ENSG00000178015	ENST00000380007	T	0.71817	-0.6	3.88	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	1.060230	0.07549	U	0.915164	T	0.00073	0.0002	L	0.43152	1.355	0.53688	P	2.199999999996649E-5	B	0.25351	0.124	B	0.22880	0.042	T	0.03384	-1.1042	9	0.17369	T	0.5	-1.808	8.2918	0.31963	0.0935:0.2949:0.6117:0.0	.	214	Q8NGU9	GP150_HUMAN	Q	214	ENSP00000369344:E214Q	ENSP00000369344:E214Q	E	+	1	0	GPR150	94982375	0.996000	0.38824	0.004000	0.12327	0.017000	0.09413	0.923000	0.28757	0.002000	0.14630	-1.943000	0.00494	GAG	G|0.844;C|0.156		0.776	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			C	94956619	G	C	94956619	3	2	46	1	0	0	0	0	1	0	0	0	6682	1175	41	3	642	3	GPR150	5	94956619	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	14405790	94956619	85958641	32	9779											
CD14	929	broad.mit.edu	37	chr5	140012352	140012352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcggcgtccgcatcgaCgcgctttagaaacggctcta	13	13	1	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:140012352C>A	ENST00000302014.6	-	2	846	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	CD14_ENST00000401743.2_Missense_Mutation_p.V73F	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	73	Ligand-binding pocket rim.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCATCGACGCGCTTTAGA	0.632																																					p.V73F		.											.	CD14-90	0			c.G217T						.						35	36	36					5																	140012352		2203	4300	6503	SO:0001583	missense	929	exon3			CATCGACGCGCTT		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.217G>T	5.37:g.140012352C>A	ENSP00000304236:p.Val73Phe	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	106	4	NM_001174105	0	0	4	4	0	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999538	0.54147	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.87	5.0	0.66597	.	1.225160	0.06630	U	0.758976	D	0.85691	0.5755	L	0.34521	1.04	0.09310	N	1	B	0.34329	0.449	B	0.26517	0.07	T	0.75619	-0.3255	10	0.56958	D	0.05	-8.652	10.8824	0.46946	0.0:0.9138:0.0:0.0862	.	73	P08571	CD14_HUMAN	F	73	ENSP00000304236:V73F;ENSP00000385519:V73F;ENSP00000426543:V73F;ENSP00000430884:V73F	ENSP00000304236:V73F	V	-	1	0	CD14	139992536	0.006000	0.16342	0.003000	0.11579	0.013000	0.08279	1.862000	0.39448	1.487000	0.48415	0.655000	0.94253	GTC	.		0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		A	140012352	C	A	140012352	3	1	46	1	0	0	0	0	1	0	0	0	2971	536	19	2	914	2	CD14	5	140012352	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	45055733	140012352	40902908	33	9780											
PCDHB10	56126	hgsc.bcm.edu	37	chr5	140572420	140572420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagctgtgtggccctAaagagccctgtatgctgtat	13	8	0	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:140572420A>G	ENST00000239446.4	+	1	479	c.295A>G	c.(295-297)Aaa>Gaa	p.K99E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGGCCCTAAAGAGCCCTG	0.458																																					p.K99E		.											.	PCDHB10-92	0			c.A295G						.						36	36	36					5																	140572420		2080	4206	6286	SO:0001583	missense	56126	exon1			GGCCCTAAAGAGC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.295A>G	5.37:g.140572420A>G	ENSP00000239446:p.Lys99Glu	Somatic	264	0		WXS	Illumina GAIIx	Phase_I	518	75	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	A	5.158	0.214807	0.09810	.	.	ENSG00000120324	ENST00000239446	T	0.27557	1.66	3.46	2.28	0.28536	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.20210	0.0486	N	0.20328	0.56	0.09310	N	1	B	0.22851	0.076	B	0.29440	0.102	T	0.27262	-1.0079	9	0.72032	D	0.01	.	5.9424	0.19199	0.7778:0.0:0.2222:0.0	.	99	Q9UN67	PCDBA_HUMAN	E	99	ENSP00000239446:K99E	ENSP00000239446:K99E	K	+	1	0	PCDHB10	140552604	0.000000	0.05858	0.104000	0.21259	0.303000	0.27691	-0.528000	0.06193	0.553000	0.29044	0.449000	0.29647	AAA	A|0.986;G|0.014		0.458	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		G	140572420	A	G	140572420	3	3	46	1	0	0	0	0	1	0	0	0	11574	363	13	4	297	4	PCDHB10	5	140572420	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	560068	140572420	40342840	34	9781											
GRM6	2916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178419079	178419079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggcatagctgatctgGggtatctgtggggcaggaag	19	5	2	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:178419079G>A	ENST00000517717.1	-	3	548	c.510C>T	c.(508-510)ccC>ccT	p.P170P	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.P170P			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	170					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)		AGCTGATCTGGGGTATCTGTG	0.632																																					p.P170P		.											.	GRM6-588	0			c.C510T						.						28	30	30					5																	178419079		2203	4300	6503	SO:0001819	synonymous_variant	2916	exon2			GATCTGGGGTATC	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.510C>T	5.37:g.178419079G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	132	79	NM_000843	0	0	0	0	0		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																			.		0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			A	178419079	G	A	178419079	2	1	46	1	0	0	0	0	0	0	0	1	6828	1219	43	3		3	GRM6	5	178419079	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	37846659	178419079	2496181	35	9782											
CANX	821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179149880	179149880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagaatgactccttttAgtgctattggtttggagctg	10	7	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:179149880A>G	ENST00000247461.4	+	11	1458	c.1258A>G	c.(1258-1260)Agt>Ggt	p.S420G	CANX_ENST00000512607.2_Missense_Mutation_p.S312G|CANX_ENST00000504734.1_Missense_Mutation_p.S420G|CANX_ENST00000452673.2_Missense_Mutation_p.S420G|CANX_ENST00000415618.2_Missense_Mutation_p.S455G	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	420					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GACTCCTTTTAGTGCTATTGG	0.368																																					p.S420G		.											.	CANX-90	0			c.A1258G						.						120	123	122					5																	179149880		2203	4300	6503	SO:0001583	missense	821	exon11			CCTTTTAGTGCTA	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1258A>G	5.37:g.179149880A>G	ENSP00000247461:p.Ser420Gly	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	137	28	NM_001746	0	0	13	13	0	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	A	9.904	1.207617	0.22205	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);	0.238835	0.56097	D	0.000031	T	0.26846	0.0657	N	0.12182	0.205	0.54753	D	0.999983	B;B	0.12630	0.006;0.002	B;B	0.17433	0.018;0.016	T	0.13229	-1.0517	10	0.07990	T	0.79	-6.0879	11.2694	0.49129	0.8637:0.0:0.0:0.1363	.	455;420	B4DGP8;P27824	.;CALX_HUMAN	G	420;455;420;420;312	ENSP00000424063:S420G;ENSP00000394817:S455G;ENSP00000391646:S420G;ENSP00000247461:S420G;ENSP00000423588:S312G	ENSP00000247461:S420G	S	+	1	0	CANX	179082486	1.000000	0.71417	0.229000	0.23960	0.112000	0.19704	7.338000	0.79269	2.274000	0.75844	0.528000	0.53228	AGT	.		0.368	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		G	179149880	A	G	179149880	3	3	46	1	0	0	0	0	1	0	0	0	2625	420	15	4	1296	4	CANX	5	179149880	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	730801	179149880	1765380	36	9783											
CYP21A2	1589	bcgsc.ca	37	chr6	32006886	32006886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacaagctggtgtctaGgaactacccggacctgtcct	11	12	1	1	rs397515530	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:32006886G>A	ENST00000418967.2	+	3	466	c.308G>A	c.(307-309)aGg>aAg	p.R103K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R73K|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	102					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CTGGTGTCTAGGAACTACCCG	0.622													A|||	1076	0.214856	0.0227	0.3718	5008	,	,		13967	0.2173		0.339	False		,,,				2504	0.2331				.	Melanoma(174;1669 1998 3915 34700 46447)	.											.	CYP21A2-68	0			.						.	A	LYS/ARG,LYS/ARG	305,4097		19,267,1915	32	30	31		308,218	-4.4	0	6	dbSNP_52	31	2705,5895		427,1851,2022	no	missense,missense	CYP21A2	NM_000500.7,NM_001128590.3	26,26	446,2118,3937	AA,AG,GG		31.4535,6.9287,23.1503	benign,benign	103/496,73/466	32006886	3010,9992	2201	4300	6501	SO:0001583	missense	1589	.			TGTCTAGGAACTA	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.308G>A	6.37:g.32006886G>A	ENSP00000408860:p.Arg103Lys	Somatic	291	3		WXS	Illumina GAIIx	Phase_I	204	6	.	0	0	1	3	2	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Splice_Site	SNP	ENST00000418967.2	37	CCDS4735.1	555	0.2541208791208791	16	0.032520325203252036	146	0.40331491712707185	135	0.23601398601398602	258	0.3403693931398417	A	1.410	-0.575885	0.03882	0.069287	0.314535	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671;ENST00000435122	T;T;T;T	0.79352	-0.3;-0.27;-0.3;-1.26	4.24	-4.44	0.03557	.	1.457070	0.04621	N	0.401961	T	0.21509	0.0518	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.08472	-1.0720	8	0.07325	T	0.83	.	0.5233	0.00616	0.2535:0.1425:0.1853:0.4187	rs6474;rs1136162;rs60600717;rs6474	73;103	Q5ST44;Q16874	.;.	K	103;114;103;73	ENSP00000408860:R103K;ENSP00000419572:R114K;ENSP00000418561:R103K;ENSP00000415043:R73K	ENSP00000408860:R103K	R	+	2	0	CYP21A2	32114865	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.034000	0.03567	-1.185000	0.02716	-0.360000	0.07572	AGG	G|0.763;A|0.237		0.622	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		A	32006886	G	A	32006886	3	1	46	1	0	0	0	0	1	0	0	0	4162	1000	35	3	1839	3	CYP21A2	6	32006886	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		32006886	139108181	37	9784											
ITPR3	3710	bcgsc.ca	37	chr6	33657016	33657016	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcccctggcccccaggCgtgctggactcccctctcat	9	21	1	0	rs150616390	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:33657016C>T	ENST00000374316.5	+	51	7756	c.6696C>T	c.(6694-6696)ggC>ggT	p.G2232G	ITPR3_ENST00000605930.1_Splice_Site_p.G2232G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2232					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)	GGCCCCCAGGCGTGCTGGACT	0.647													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		18815	0		0	False		,,,				2504	0				p.G2232G		.											.	ITPR3-1085	0			c.C6696T						.	C		28,4378	34.3+/-65.2	0,28,2175	114	101	105		6696	-10.1	0.3	6	dbSNP_134	105	0,8600		0,0,4300	yes	coding-synonymous-near-splice	ITPR3	NM_002224.3		0,28,6475	TT,TC,CC		0.0,0.6355,0.2153		2232/2672	33657016	28,12978	2203	4300	6503	SO:0001630	splice_region_variant	3710	exon50			CCCAGGCGTGCTG	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.6695-1C>T	6.37:g.33657016C>T		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	34	7	NM_002224	0	0	0	0	0	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																			C|0.999;T|0.001		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	Silent	T	33657016	C	T	33657016	5	4	46	1	0	0	0	0	0	0	1	0	7949	782	27	1	6894	1	ITPR3	6	33657016	Splice_Site	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	1650130	33657016	137458051	38	9785											
LAMA2	3908	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	129381036	129381036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaattaccctggatttaCagcaggtatagttcctcttt	7	9	1	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:129381036C>A	ENST00000421865.2	+	3	440	c.391C>A	c.(391-393)Cag>Aag	p.Q131K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	131	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGGATTTACAGCAGGTATA	0.363																																					p.Q131K		.											.	LAMA2-162	0			c.C391A						.						125	109	114					6																	129381036		2203	4300	6503	SO:0001583	missense	3908	exon3			GATTTACAGCAGG	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.391C>A	6.37:g.129381036C>A	ENSP00000400365:p.Gln131Lys	Somatic	267	1		WXS	Illumina GAIIx	Phase_I	229	28	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051238	0.36181	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.74842	-0.88	5.51	5.51	0.81932	Laminin, N-terminal (3);	0.067205	0.64402	D	0.000011	T	0.38480	0.1042	N	0.05306	-0.075	0.41963	D	0.990717	B;B	0.17465	0.022;0.022	B;B	0.17433	0.018;0.018	T	0.47699	-0.9097	10	0.07990	T	0.79	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	131;131	A6NF00;P24043	.;LAMA2_HUMAN	K	131	ENSP00000400365:Q131K	ENSP00000346769:Q131K	Q	+	1	0	LAMA2	129422729	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	2.801000	0.47908	2.611000	0.88343	0.580000	0.79431	CAG	.		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129381036	C	A	129381036	3	1	46	1	0	0	0	0	1	0	0	0	8634	479	17	3	401	3	LAMA2	6	129381036	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	95724020	129381036	41734031	39	9786											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|LRP11_ENST00000546019.1_Intron	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_032832	0	0	0	0	0	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	46	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	20803846	150184882	20930185	40	9787											
EZR	7430	broad.mit.edu	37	chr6	159188467	159188467	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accggctcgtacacggggggTggtgggggcgggggtgctgt	23	8	0	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:159188467T>G	ENST00000367075.3	-	13	1590	c.1422A>C	c.(1420-1422)ccA>ccC	p.P474P	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000337147.7_Silent_p.P474P|EZR_ENST00000392177.4_Silent_p.P442P	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	474	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)		ACACGGGGGGTGGTGGGGGCG	0.602			T	ROS1	NSCLC																																p.P474P		.		Dom	yes		6	6q25.3	7430	ezrin		E	.	EZR-70	0			c.A1422C						.						45	50	49					6																	159188467		2201	4300	6501	SO:0001819	synonymous_variant	7430	exon12			GGGGGGTGGTGGG	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.1422A>C	6.37:g.159188467T>G		Somatic	69	11		WXS	Illumina GAIIx	Phase_I	90	21	NM_003379	0	0	17	18	1	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																			.		0.602	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		G	159188467	T	G	159188467	2	3	46	1	0	0	0	0	0	0	0	1	5351	1683	59	5		5	EZR	6	159188467	Silent	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	9003585	159188467	11926600	41	9788											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	46	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		5372406	153766257	42	9789											
C7orf25	79020	hgsc.bcm.edu	37	chr7	42951515	42951515	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccccggctcctcaccGgcagcgccagaaccgcgagc	11	20	1	1	rs647117	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:42951515G>A	ENST00000350427.4	-	0	253				C7orf25_ENST00000447342.1_5'UTR|C7orf25_ENST00000438029.1_5'Flank|PSMA2_ENST00000442788.1_Intron|C7orf25_ENST00000431882.2_Splice_Site_p.P51L			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GCTCCTCACCGGCAGCGCCAG	0.776													G|||	3157	0.630391	0.2375	0.6441	5008	,	,		8870	0.8115		0.7942	False		,,,				2504	0.7965				p.P51L		.											.	C7orf25-69	0			c.C152T						.						1	3	3					7																	42951515		861	2341	3202	SO:0001623	5_prime_UTR_variant	79020	exon1			CTCACCGGCAGCG	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.-23C>T	7.37:g.42951515G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001099858	0	0	0	0	0	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	1440	0.6593406593406593	138	0.2804878048780488	246	0.6795580110497238	462	0.8076923076923077	594	0.783641160949868	G	17.15	3.315246	0.60524	.	.	ENSG00000136197	ENST00000431882	T	0.44482	0.92	4.32	-8.46	0.00942	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999987487	.	.	.	.	.	.	T	0.15321	-1.0441	5	0.42905	T	0.14	.	8.9128	0.35563	0.2569:0.4962:0.2469:0.0	rs647117;rs1649752;rs28969568	.	.	.	L	51	ENSP00000416290:P51L	ENSP00000416290:P51L	P	-	2	0	C7orf25	42918040	0.031000	0.19500	0.336000	0.25522	0.890000	0.51754	-1.574000	0.02133	-1.368000	0.02149	0.455000	0.32223	CCG	G|0.340;A|0.660		0.776	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		A	42951515	G	A	42951515	1	1	46	0	1	0	0	0	0	0	0	0	2387	1130	39	1		1	C7orf25	7	42951515	5'UTR	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	37579109	42951515	116187148	43	9790											
FBXL13	222235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	102553550	102553550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggtgcagccagagaGgtccagatagatgagcttgt	14	8	0	4			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:102553550G>A	ENST00000313221.4	-	11	1417	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	FBXL13_ENST00000436908.1_Missense_Mutation_p.L331F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L331F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L331F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L331F|FBXL13_ENST00000456695.1_Missense_Mutation_p.L331F|FBXL13_ENST00000393772.2_Missense_Mutation_p.L331F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L331F|LRRC17_ENST00000249377.4_5'UTR|LRRC17_ENST00000339431.4_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	331										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGCCAGAGAGGTCCAGATAG	0.483																																					p.L331F		.											.	FBXL13-226	0			c.C991T						.						140	124	130					7																	102553550		2203	4300	6503	SO:0001583	missense	222235	exon11			CAGAGAGGTCCAG	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.991C>T	7.37:g.102553550G>A	ENSP00000321927:p.Leu331Phe	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	138	13	NM_001111038	0	0	1	1	0	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522051	0.64747	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.72615	4.1;4.1;4.16;4.1;-0.67;-0.67;4.16;4.1	5.43	4.55	0.56014	.	0.000000	0.64402	D	0.000002	D	0.84790	0.5550	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	0.994;0.989;1.0;0.995	D;D;D;D	0.77004	0.925;0.938;0.989;0.927	D	0.86863	0.2031	10	0.54805	T	0.06	.	14.5735	0.68229	0.0:0.0:0.6614:0.3385	.	331;331;331;331	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	F	331	ENSP00000377367:L331F;ENSP00000368610:L331F;ENSP00000368608:L331F;ENSP00000368607:L331F;ENSP00000388608:L331F;ENSP00000321927:L331F;ENSP00000409716:L331F;ENSP00000391550:L331F	ENSP00000321927:L331F	L	-	1	0	FBXL13	102340786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.108000	0.50337	1.508000	0.48769	-0.181000	0.13052	CTC	.		0.483	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102553550	G	A	102553550	3	1	46	1	0	0	0	0	1	0	0	0	5731	1000	35	3	1256	3	FBXL13	7	102553550	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	59602035	102553550	56585113	44	9791											
ASB15	142685	bcgsc.ca	37	chr7	123269118	123269118	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgcgctgtattttgGcgtttctaataatgacgttc	10	7	1	2	rs4731112	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:123269118G>C	ENST00000451558.1	+	12	1591	c.1070G>C	c.(1069-1071)gGc>gCc	p.G357A	ASB15_ENST00000275699.3_Missense_Mutation_p.G357A|ASB15_ENST00000434204.1_Missense_Mutation_p.G357A|ASB15_ENST00000540573.1_Missense_Mutation_p.G357A|ASB15_ENST00000451215.1_Missense_Mutation_p.G357A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	357			G -> A (in dbSNP:rs4731112). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGTATTTTGGCGTTTCTAAT	0.463													C|||	3965	0.791733	0.8215	0.7406	5008	,	,		21759	0.8284		0.7078	False		,,,				2504	0.8364				p.G357A		.											.	ASB15-228	0			c.G1070C						.	C	ALA/GLY	3524,882	343.8+/-307.8	1416,692,95	155	140	145		1070	6.2	1	7	dbSNP_111	145	5836,2764	439.1+/-359.1	1975,1886,439	yes	missense	ASB15	NM_080928.3	60	3391,2578,534	CC,CG,GG		32.1395,20.0182,28.0332	benign	357/589	123269118	9360,3646	2203	4300	6503	SO:0001583	missense	142685	exon8			ATTTTGGCGTTTC	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1070G>C	7.37:g.123269118G>C	ENSP00000397655:p.Gly357Ala	Somatic	265	1		WXS	Illumina GAIIx	Phase_I	338	9	NM_080928	0	0	0	0	0	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	1691	0.7742673992673993	403	0.8191056910569106	272	0.7513812154696132	471	0.8234265734265734	545	0.7189973614775725	C	9.046	0.990777	0.18966	0.799818	0.678605	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00006	-3.225	0.40016	P	0.024648000000000003	B	0.02656	0.0	B	0.01281	0.0	T	0.48514	-0.9029	9	0.02654	T	1	.	17.8655	0.88794	0.0:0.8784:0.1216:0.0	rs4731112;rs17694255;rs56615999;rs59693441;rs4731112	357	Q8WXK1	ASB15_HUMAN	A	357;357;357;357;146;357	ENSP00000397655:G357A;ENSP00000390963:G357A;ENSP00000416433:G357A;ENSP00000438643:G357A;ENSP00000275699:G357A	ENSP00000275699:G357A	G	+	2	0	ASB15	123056354	1.000000	0.71417	0.953000	0.39169	0.902000	0.53008	5.778000	0.68940	1.643000	0.50594	-0.120000	0.15030	GGC	G|0.256;C|0.744		0.463	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			C	123269118	G	C	123269118	3	2	46	1	0	0	0	0	1	0	0	0	1020	1203	42	3	1096	3	ASB15	7	123269118	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	20715568	123269118	35869545	45	9792											
ZNF467	168544	hgsc.bcm.edu	37	chr7	149462337	149462337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgcgctggggcaccacGggatcggatcctgggccgca	19	13	0	0	rs855667	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:149462337G>A	ENST00000302017.3	-	5	1667	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	418					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)			GGGGCACCACGGGATCGGATC	0.776													A|||	1297	0.258986	0.6051	0.1513	5008	,	,		9829	0.0774		0.1779	False		,,,				2504	0.138				p.P418P		.											.	ZNF467-90	0			c.C1254T						.	A		1016,1770		158,700,535	2	2	2		1254	-5.3	0	7	dbSNP_86	2	781,5233		68,645,2294	no	coding-synonymous	ZNF467	NM_207336.1		226,1345,2829	AA,AG,GG		12.9864,36.4681,20.4205		418/596	149462337	1797,7003	1393	3007	4400	SO:0001819	synonymous_variant	168544	exon5			CACCACGGGATCG	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.1254C>T	7.37:g.149462337G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_207336	0	0	0	0	0		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			G|0.763;A|0.237		0.776	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		A	149462337	G	A	149462337	2	1	46	1	0	0	0	0	0	0	0	1	17975	1103	39	1		1	ZNF467	7	149462337	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	26193219	149462337	9676326	46	9793											
TMEM176A	55365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150500884	150500884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccagaagaagtcagaagGctacacctatgtacctcctt	8	11	1	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:150500884G>T	ENST00000484928.1	+	5	1100	c.519G>T	c.(517-519)agG>agT	p.R173S	TMEM176A_ENST00000004103.3_Missense_Mutation_p.R173S|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.R114S			Q96HP8	T176A_HUMAN	transmembrane protein 176A	173					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGTCAGAAGGCTACACCTAT	0.587																																					p.R173S		.											.	TMEM176A-92	0			c.G519T						.						54	53	53					7																	150500884		2203	4300	6503	SO:0001583	missense	55365	exon5			CAGAAGGCTACAC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.519G>T	7.37:g.150500884G>T	ENSP00000417626:p.Arg173Ser	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	77	19	NM_018487	0	0	0	0	0	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086658	0.55861	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.36157	4.39;4.39;4.39;4.39;1.27	3.33	2.44	0.29823	.	0.663280	0.15164	N	0.277011	T	0.52581	0.1743	M	0.66939	2.045	0.19300	N	0.999977	D	0.89917	1.0	D	0.87578	0.998	T	0.30031	-0.9992	10	0.72032	D	0.01	-12.1148	6.4493	0.21894	0.1345:0.0:0.8655:0.0	.	173	Q96HP8	T176A_HUMAN	S	173;173;114;125;114	ENSP00000417626:R173S;ENSP00000004103:R173S;ENSP00000420818:R114S;ENSP00000417834:R125S;ENSP00000420081:R114S	ENSP00000004103:R173S	R	+	3	2	TMEM176A	150131817	0.403000	0.25319	0.259000	0.24435	0.339000	0.28857	1.009000	0.29886	0.983000	0.38602	0.455000	0.32223	AGG	.		0.587	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		T	150500884	G	T	150500884	3	4	46	1	0	0	0	0	1	0	0	0	16139	1194	42	3	533	3	TMEM176A	7	150500884	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	1038547	150500884	8637779	47	9794											
SFTPC	649	bcgsc.ca	37	chr8	22021037	22021037	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccagtcttgaggctctcaCtagaaaagtccacaacttcc	6	15	2	2	rs4715	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr8:22021037C>A	ENST00000306385.5	+	0	0				BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000437090.2_Missense_Mutation_p.T138N|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.T138N|SFTPC_ENST00000521315.1_Missense_Mutation_p.T138N|SFTPC_ENST00000524255.1_Missense_Mutation_p.T85N|SFTPC_ENST00000520605.1_Missense_Mutation_p.T85N|SFTPC_ENST00000318561.3_Missense_Mutation_p.T138N	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGGCTCTCACTAGAAAAGTC	0.552													C|||	989	0.197484	0.0318	0.2507	5008	,	,		19997	0.2688		0.2644	False		,,,				2504	0.2413				p.T138N		.											.	SFTPC-90	0			c.C413A	GRCh37	CM040798	SFTPC	M	rs4715	.	C	ASN/THR,ASN/THR,ASN/THR	241,3641		12,217,1712	76	77	77		413,413,413	2.5	0.4	8	dbSNP_52	77	2277,6019		308,1661,2179	yes	missense,missense,missense	SFTPC	NM_001172357.1,NM_001172410.1,NM_003018.3	65,65,65	320,1878,3891	AA,AC,CC		27.447,6.2081,20.6766	benign,benign,benign	138/192,138/198,138/198	22021037	2518,9660	1941	4148	6089	SO:0001631	upstream_gene_variant	6440	exon4			CTCTCACTAGAAA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021037C>A	Exception_encountered	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	127	6	NM_003018	0	0	0	0	0	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	464	0.21245421245421245	19	0.03861788617886179	95	0.26243093922651933	146	0.25524475524475526	204	0.2691292875989446	C	18.99	3.740275	0.69304	0.062081	0.27447	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.49	2.47	0.30058	.	0.507841	0.18215	N	0.148061	T	0.00039	0.0001	.	.	.	0.54753	P	1.799999999996249E-5	P;B;P	0.51933	0.949;0.002;0.896	P;B;P	0.54815	0.761;0.004;0.602	T	0.01156	-1.1434	8	0.49607	T	0.09	-1.1419	7.5391	0.27727	0.0:0.7072:0.0:0.2928	rs4715;rs1126717;rs2269331;rs3181906;rs8192341;rs11552818;rs17353998;rs17856155;rs52790253;rs57605652;rs4715	138;138;138	E9PGX3;C9JYF6;E5RI92	.;.;.	N	138;138;138;85;138;85;85	ENSP00000316152:T138N;ENSP00000430410:T138N;ENSP00000407931:T138N;ENSP00000430266:T85N;ENSP00000429496:T138N;ENSP00000429552:T85N;ENSP00000429619:T85N	ENSP00000316152:T138N	T	+	2	0	SFTPC	22076982	0.001000	0.12720	0.423000	0.26634	0.922000	0.55478	0.920000	0.28705	0.200000	0.20447	0.655000	0.94253	ACT	C|0.796;A|0.204		0.552	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22021037	C	A	22021037	1	1	46	0	1	0	0	0	0	0	0	0	14237	565	20	3		3	SFTPC	8	22021037	5'Flank	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		22021037	124342985	48	9795											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	23	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	46	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	124012310	146033347	330675	49	9796											
CDC37L1	55664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	4685143	4685143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacggatgccattagcaaGgatgtttttaataaggtatg	11	5	0	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:4685143G>A	ENST00000381854.3	+	2	601	c.399G>A	c.(397-399)aaG>aaA	p.K133K	CDC37L1_ENST00000381858.1_Silent_p.K133K|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	133	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)		CCATTAGCAAGGATGTTTTTA	0.418																																					p.K133K		.											.	CDC37L1-90	0			c.G399A						.						119	123	122					9																	4685143		2203	4300	6503	SO:0001819	synonymous_variant	55664	exon2			TAGCAAGGATGTT	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.399G>A	9.37:g.4685143G>A		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	181	66	NM_017913	0	0	1	3	2	B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	CCDS6454.1																																																																																			.		0.418	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		A	4685143	G	A	4685143	2	1	46	1	0	0	0	0	0	0	0	1	3076	991	35	3		3	CDC37L1	9	4685143	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		4685143	136528288	50	9797											
PTPRD	5789	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	8485824	8485824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcccgggccctttgctcGtatgagcacgtacttttaca	10	12	0	1	rs547908736		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:8485824G>T	ENST00000381196.4	-	25	3536	c.2993C>A	c.(2992-2994)aCg>aAg	p.T998K	PTPRD_ENST00000540109.1_Missense_Mutation_p.T998K|PTPRD_ENST00000356435.5_Missense_Mutation_p.T998K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Missense_Mutation_p.T985K|PTPRD_ENST00000358503.5_Missense_Mutation_p.T976K|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTTTGCTCGTATGAGCACG	0.498										TSP Lung(15;0.13)																											p.T998K		.											.	PTPRD-912	0			c.C2993A						.						107	93	97					9																	8485824		2203	4300	6503	SO:0001583	missense	5789	exon28			TTGCTCGTATGAG	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.2993C>A	9.37:g.8485824G>T	ENSP00000370593:p.Thr998Lys	Somatic	159	1		WXS	Illumina GAIIx	Phase_I	185	23	NM_002839	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382455	0.82792	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	H	0.94808	3.585	0.80722	D	1	D;D;B	0.67145	0.996;0.984;0.203	D;P;B	0.66716	0.946;0.823;0.33	D	0.85953	0.1465	9	.	.	.	.	19.4956	0.95070	0.0:0.0:1.0:0.0	.	985;998;998	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	K	998;998;985;976;998	ENSP00000370593:T998K;ENSP00000348812:T998K;ENSP00000353187:T985K;ENSP00000351293:T976K;ENSP00000438164:T998K	.	T	-	2	0	PTPRD	8475824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.693000	0.91896	0.655000	0.94253	ACG	.		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8485824	G	T	8485824	3	4	46	1	0	0	0	0	1	0	0	0	12844	1145	40	2	2889	2	PTPRD	9	8485824	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	3800681	8485824	132727607	51	9798											
IARS	3376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	94985663	94985663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagctgtaggttgataTactgacaaagaagagtacta	11	5	1	4	rs560795216		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:94985663T>C	ENST00000375643.3	-	32	3784	c.3518A>G	c.(3517-3519)tAt>tGt	p.Y1173C	IARS_ENST00000375629.3_3'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y1173C|IARS_ENST00000447699.2_Missense_Mutation_p.Y1063C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1173					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)	TAGGTTGATATACTGACAAAG	0.458													T|||	1	0.000199681	8e-04	0	5008	,	,		17559	0		0	False		,,,				2504	0				p.Y1173C		.											.	IARS-92	0			c.A3518G						.						138	126	130					9																	94985663		2203	4300	6503	SO:0001583	missense	3376	exon32			TTGATATACTGAC	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.3518A>G	9.37:g.94985663T>C	ENSP00000364794:p.Tyr1173Cys	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	152	67	NM_013417	0	0	7	11	4	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508526	0.64410	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189	T;T;T	0.72615	-0.67;-0.67;-0.67	5.86	3.41	0.39046	.	0.161726	0.56097	D	0.000023	T	0.77110	0.4082	M	0.61703	1.905	0.19945	N	0.999941	D;D;D	0.89917	1.0;0.97;0.963	D;P;P	0.65573	0.936;0.619;0.512	T	0.66329	-0.5951	10	0.72032	D	0.01	-15.7686	6.5523	0.22442	0.1379:0.0774:0.0:0.7846	.	683;1173;966	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	C	1173;1173;182;1063;1173;182	ENSP00000364794:Y1173C;ENSP00000406448:Y1173C;ENSP00000415020:Y1063C	ENSP00000364794:Y1173C	Y	-	2	0	IARS	94025484	0.997000	0.39634	0.020000	0.16555	0.282000	0.26991	3.656000	0.54467	1.163000	0.42636	0.528000	0.53228	TAT	.		0.458	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		C	94985663	T	C	94985663	3	2	46	1	0	0	0	0	1	0	0	0	7500	1406	49	4	282	4	IARS	9	94985663	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	86499839	94985663	46227768	52	9799											
ALG2	10952	hgsc.bcm.edu	37	chr9	101983912	101983912	+	5'Flank	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgcgcacgtaggcgcAgacggcggcgccgcggccgc	16	16	0	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:101983912A>C	ENST00000223641.4	+	0	0				ALG2_ENST00000319033.6_5'Flank|SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000476832.1_Missense_Mutation_p.C89G	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACGTAGGCGCAGAcggcggcg	0.731																																					p.C89G		.											.	ALG2-92	0			c.T265G						.						4	4	4					9																	101983912		1758	3411	5169	SO:0001631	upstream_gene_variant	85365	exon1			AGGCGCAGACGGC	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101983912A>C	Exception_encountered	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_033087	0	0	0	1	1	P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986706	0.93106	.	.	ENSG00000119523	ENST00000476832	T	0.77229	-1.08	4.66	4.66	0.58398	.	0.098809	0.85682	D	0.000000	D	0.90038	0.6889	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90454	0.4441	10	0.30078	T	0.28	-15.5742	14.2621	0.66092	1.0:0.0:0.0:0.0	.	89	Q9H553	ALG2_HUMAN	G	89	ENSP00000417764:C89G	ENSP00000417764:C89G	C	-	1	0	ALG2	101023733	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.844000	0.86867	1.969000	0.57287	0.533000	0.62120	TGC	.		0.731	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		C	101983912	A	C	101983912	1	2	46	0	1	0	0	0	0	0	0	0	519	188	7	5		5	ALG2	9	101983912	5'Flank	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	6998249	101983912	39229519	53	9800											
FPGS	2356	hgsc.bcm.edu	37	chr9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtctgcgcgcggcAtaacgacccaggtcgcggcg	16	15	1	0	rs11554717|rs10760502	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000373225.3_5'Flank|FPGS_ENST00000393706.2_Missense_Mutation_p.I22V|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.I22V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		.											.	FPGS-90	0			c.A64G						.		VAL/ILE	2249,281		997,255,13	1	3	2		64	1.8	0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_004957	0	0	0	0	0	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.235;G|0.765		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130565267	A	G	130565267	3	3	46	1	0	0	0	0	1	0	0	0	6060	217	8	4	66	4	FPGS	9	130565267	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	28581355	130565267	10648164	54	9801											
LYZL1	84569	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	29599974	29599975	+	Frame_Shift_Del	DEL	TG	TG	-													tgtccgagtggaaaaaaggcTgtgaggtttcctaaactgga							TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:29599974_29599975delTG	ENST00000375500.3	+	5	628_629	c.571_572delTG	c.(571-573)tgtfs	p.C191fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	145					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GAAAAAAGGCTGTGAGGTTTCC	0.515																																					p.191_191del		.											.	LYZL1-90	0			c.571_572del						.																																			SO:0001589	frameshift_variant	84569	exon5			AAAGGCTGTGAGG		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.571_572delTG	10.37:g.29599976_29599977delTG	ENSP00000364650:p.Cys191fs	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	149	28	NM_032517	0	0	0	0	0	Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	CCDS31174.1																																																																																			.		0.515	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		-	29599975	TG	-	29599974	7	5	46	1	0	1	0	1	0	0	0	0	9167	1580	55	0	589	0	LYZL1	10	29599974	Frame_Shift_Del	DEL	TG	TCGA-OR-A5L6-01A-11D-A29I-10		29599974	105934773	55	9802	100	2									
LYZL1	84569	hgsc.bcm.edu	37	chr10	29599976	29599977	+	Frame_Shift_Del	DEL	TG	TG	-													tccgagtggaaaaaaggctgTgaggtttcctaaactggaac					rs199993914		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:29599976_29599977delTG	ENST00000375500.3	+	5	630_631	c.573_574delTG	c.(571-576)tgtgagfs	p.CE191fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	145					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAAAAGGCTGTGAGGTTTCCTA	0.52																																					p.191_192del		.											.	LYZL1-90	0			c.573_574del						.																																			SO:0001589	frameshift_variant	84569	exon5			AGGCTGTGAGGTT		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.573_574delTG	10.37:g.29599976_29599977delTG	ENSP00000364650:p.Cys191fs	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	150	0	NM_032517	0	0	0	0	0	Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	CCDS31174.1																																																																																			.		0.52	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		-	29599977	TG	-	29599976	7	5	46	1	0	1	0	1	0	0	0	0	9167	1702	59	0	591	0	LYZL1	10	29599976	Frame_Shift_Del	DEL	TG	TCGA-OR-A5L6-01A-11D-A29I-10	2	29599976	105934771	56	9803	100	2									
SIRT1	23411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	69651221	69651221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatttatgctcgccttgCtgtagacttcccagatcttc	8	11	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:69651221C>T	ENST00000212015.6	+	4	904	c.851C>T	c.(850-852)gCt>gTt	p.A284V	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000406900.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	284	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GCTCGCCTTGCTGTAGACTTC	0.378																																					p.A284V		.											.	SIRT1-226	0			c.C851T						.						228	222	224					10																	69651221		2203	4300	6503	SO:0001583	missense	23411	exon4			GCCTTGCTGTAGA	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.851C>T	10.37:g.69651221C>T	ENSP00000212015:p.Ala284Val	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	119	40	NM_012238	0	0	0	0	0	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292716	0.95546	.	.	ENSG00000096717	ENST00000212015	T	0.47528	0.84	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76948	-0.2770	10	0.87932	D	0	-16.5145	17.7449	0.88418	0.0:1.0:0.0:0.0	.	284	Q96EB6	SIRT1_HUMAN	V	284	ENSP00000212015:A284V	ENSP00000212015:A284V	A	+	2	0	SIRT1	69321227	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	7.289000	0.78701	2.495000	0.84180	0.557000	0.71058	GCT	.		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			T	69651221	C	T	69651221	3	4	46	1	0	0	0	0	1	0	0	0	14382	797	28	3	865	3	SIRT1	10	69651221	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	40051245	69651221	65883526	57	9804											
CYP26C1	340665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	94821064	94821064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcagtgctgggggcggCgggcactgctctcctgtgcg	17	13	2	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:94821064C>T	ENST00000285949.5	+	1	44	c.44C>T	c.(43-45)gCg>gTg	p.A15V	RP11-348J12.2_ENST00000444965.1_RNA	NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	15					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTGGGGGCGGCGGGCACTGCT	0.716																																					p.A15V		.											.	CYP26C1-90	0			c.C44T						.						9	11	10					10																	94821064		2188	4275	6463	SO:0001583	missense	340665	exon1			GGGCGGCGGGCAC		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"Cytochrome P450s"	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.44C>T	10.37:g.94821064C>T	ENSP00000285949:p.Ala15Val	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	71	20	NM_183374	0	0	0	0	0	Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	C	2.522	-0.310442	0.05458	.	.	ENSG00000187553	ENST00000285949	T	0.70749	-0.51	5.19	2.34	0.29019	.	0.340870	0.33144	N	0.005233	T	0.44393	0.1291	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.22591	-1.0212	10	0.13470	T	0.59	-13.152	8.6381	0.33962	0.0:0.6793:0.0:0.3207	.	15	Q6V0L0	CP26C_HUMAN	V	15	ENSP00000285949:A15V	ENSP00000285949:A15V	A	+	2	0	CYP26C1	94811054	0.000000	0.05858	0.081000	0.20488	0.755000	0.42902	0.015000	0.13355	0.294000	0.22547	0.561000	0.74099	GCG	.		0.716	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		T	94821064	C	T	94821064	3	4	46	1	0	0	0	0	1	0	0	0	4166	768	27	1	46	1	CYP26C1	10	94821064	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	25169843	94821064	40713683	58	9805											
CDHR5	53841	bcgsc.ca	37	chr11	621634	621634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctgcagttgcgtctcGgggatgacggtggagttcac	15	10	3	1	rs2740373	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:621634G>A	ENST00000358353.3	-	6	757	c.435C>T	c.(433-435)ccC>ccT	p.P145P	CDHR5_ENST00000397542.2_Silent_p.P145P|CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000349570.7_Silent_p.P145P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTGCGTCTCGGGGATGACGG	0.637													a|||	933	0.186302	0.4629	0.1268	5008	,	,		17034	0.0188		0.1491	False		,,,				2504	0.0654				p.P145P		.											.	CDHR5-90	0			c.C435T						.		,,	1744,2662	647.0+/-398.5	336,1072,795	142	114	123		435,435,435	-7.8	0	11	dbSNP_100	123	1222,7378	762.6+/-407.6	97,1028,3175	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	433,2100,3970	AA,AG,GG		14.2093,39.5824,22.8049	,,	145/840,145/846,145/652	621634	2966,10040	2203	4300	6503	SO:0001819	synonymous_variant	53841	exon5			CGTCTCGGGGATG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.435C>T	11.37:g.621634G>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	135	5	NM_031264	0	0	0	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1																																																																																			G|0.783;A|0.217		0.637	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		A	621634	G	A	621634	2	1	46	1	0	0	0	0	0	0	0	1	3129	1103	39	1		1	CDHR5	11	621634	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		621634	134384882	59	9806											
OR52E2	119678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5080032	5080032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatagagattggctaggaGtatatggatatagcggggca	14	4	0	1	rs367563585		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:5080032G>A	ENST00000321522.2	-	1	825	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGCTAGGAGTATATGGATA	0.418																																					p.L276F		.											.	OR52E2-71	0			c.C826T						.						73	76	75					11																	5080032		2201	4298	6499	SO:0001583	missense	119678	exon1			CTAGGAGTATATG	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.826C>T	11.37:g.5080032G>A	ENSP00000322088:p.Leu276Phe	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	140	59	NM_001005164	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237993	0.22711	.	.	ENSG00000176787	ENST00000321522	T	0.00152	8.66	3.44	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000604	T	0.00210	0.0006	L	0.50333	1.59	0.09310	N	1	B	0.32507	0.373	B	0.41691	0.364	T	0.18871	-1.0323	10	0.34782	T	0.22	.	11.4033	0.49883	0.0:0.0:0.8171:0.1829	.	276	Q8NGJ4	O52E2_HUMAN	F	276	ENSP00000322088:L276F	ENSP00000322088:L276F	L	-	1	0	OR52E2	5036608	0.018000	0.18449	0.140000	0.22221	0.928000	0.56348	0.463000	0.21972	1.002000	0.39104	0.644000	0.83932	CTC	.		0.418	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		A	5080032	G	A	5080032	3	1	46	1	0	0	0	0	1	0	0	0	11154	1029	36	3	154	3	OR52E2	11	5080032	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	4458398	5080032	129926484	60	9807											
NAV2	89797	bcgsc.ca	37	chr11	20067064	20067064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggtcaaccaaacagaCaaggagaaaggcatctcatc	10	10	3	2	rs7125647	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:20067064C>T	ENST00000396087.3	+	15	3918	c.3819C>T	c.(3817-3819)gaC>gaT	p.D1273D	NAV2_ENST00000311043.8_Silent_p.D336D|NAV2_ENST00000533917.1_Silent_p.D336D|NAV2_ENST00000527559.2_Silent_p.D1202D|NAV2_ENST00000360655.4_Silent_p.D1186D|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Silent_p.D1250D|NAV2_ENST00000396085.1_Silent_p.D1250D|NAV2_ENST00000540292.1_Silent_p.D1204D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1273					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAACAGACAAGGAGAAAG	0.557													T|||	3317	0.66234	0.5983	0.6628	5008	,	,		19526	0.8313		0.5378	False		,,,				2504	0.7025				p.D1273D		.											.	NAV2-96	0			c.C3819T						.	T	,,,	2696,1710	515.2+/-368.8	834,1028,341	68	65	66		3558,1008,3750,3750	-0.5	0.9	11	dbSNP_116	66	4672,3928	547.1+/-385.1	1261,2150,889	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	2095,3178,1230	TT,TC,CC		45.6744,38.8107,43.3492	,,,	1186/2366,336/1494,1250/2430,1250/2433	20067064	7368,5638	2203	4300	6503	SO:0001819	synonymous_variant	89797	exon15			AACAGACAAGGAG	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3819C>T	11.37:g.20067064C>T		Somatic	104	1		WXS	Illumina GAIIx	Phase_I	108	6	NM_001244963	0	0	0	0	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.383;T|0.617		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		T	20067064	C	T	20067064	2	4	46	1	0	0	0	0	0	0	0	1	10222	477	17	3		3	NAV2	11	20067064	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	14987032	20067064	114939452	61	9808											
FOLH1	2346	bcgsc.ca	37	chr11	49204732	49204732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcatcatagtatccaaTtggatgaacaggaatacttg	9	7	1	1	rs199782232		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:49204732T>C	ENST00000256999.2	-	7	1149	c.889A>G	c.(889-891)Att>Gtt	p.I297V	FOLH1_ENST00000533034.1_Missense_Mutation_p.I282V|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.I282V|FOLH1_ENST00000356696.3_Missense_Mutation_p.I297V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	297	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TAGTATCCAATTGGATGAACA	0.363																																					p.I297V		.											.	FOLH1-579	0			c.A889G						.						78	79	78					11																	49204732		2201	4298	6499	SO:0001583	missense	2346	exon7			ATCCAATTGGATG	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.889A>G	11.37:g.49204732T>C	ENSP00000256999:p.Ile297Val	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	143	8	NM_004476	0	0	1	1	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.025	0.559465	0.13436	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.76	1.59	0.23543	.	0.125811	0.35349	N	0.003276	T	0.50582	0.1624	M	0.78344	2.41	0.80722	D	1	B;B;B;B	0.20459	0.007;0.001;0.045;0.02	B;B;B;B	0.28139	0.046;0.018;0.086;0.035	T	0.47355	-0.9124	10	0.54805	T	0.06	.	6.1691	0.20406	0.0:0.1358:0.0:0.8642	.	282;282;297;297	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	297;297;282;282;297	ENSP00000256999:I297V;ENSP00000349129:I297V;ENSP00000344131:I282V;ENSP00000431463:I282V	ENSP00000256999:I297V	I	-	1	0	FOLH1	49161308	1.000000	0.71417	0.994000	0.49952	0.146000	0.21551	3.347000	0.52200	0.301000	0.22738	0.163000	0.16589	ATT	.		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		C	49204732	T	C	49204732	3	2	46	1	0	0	0	0	1	0	0	0	6001	1493	52	4	1415	4	FOLH1	11	49204732	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	29137668	49204732	85801784	62	9809											
OR4A15	81328	bcgsc.ca	37	chr11	55135435	55135435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacacctgagtccaacaCcttcagaagaacacatgaaa	6	13	1	4	rs1425193	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:55135435C>T	ENST00000314706.3	+	1	76	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	26			P -> S (in dbSNP:rs1425193).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAGTCCAACACCTTCAGAAGA	0.398													.|||	1139	0.227436	0.0159	0.3141	5008	,	,		17645	0.3869		0.2823	False		,,,				2504	0.2311				p.P26S		.											.	OR4A15-70	0			c.C76T						.	C	SER/PRO	275,4127	153.7+/-187.2	6,263,1932	62	58	59		76	-2.7	0	11	dbSNP_88	59	2281,6311	383.2+/-340.6	325,1631,2340	yes	missense	OR4A15	NM_001005275.1	74	331,1894,4272	TT,TC,CC		26.548,6.2472,19.6706	benign	26/345	55135435	2556,10438	2201	4296	6497	SO:0001583	missense	81328	exon1			CCAACACCTTCAG	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.76C>T	11.37:g.55135435C>T	ENSP00000325065:p.Pro26Ser	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	126	7	NM_001005275	0	0	0	0	0	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	564	0.25824175824175827	13	0.026422764227642278	122	0.3370165745856354	212	0.3706293706293706	217	0.2862796833773087	c	9.493	1.101203	0.20632	0.062472	0.26548	ENSG00000181958	ENST00000314706	T	0.37584	1.19	2.8	-2.65	0.06095	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41752	-0.9491	8	0.07030	T	0.85	.	0.9311	0.01335	0.3917:0.2726:0.194:0.1417	rs1425193;rs59457328;rs1425193	26	Q8NGL6	O4A15_HUMAN	S	26	ENSP00000325065:P26S	ENSP00000325065:P26S	P	+	1	0	OR4A15	54892011	.	.	0.000000	0.03702	0.043000	0.13939	.	.	-0.268000	0.09312	0.492000	0.49549	CCT	C|0.778;T|0.222		0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		T	55135435	C	T	55135435	3	4	46	1	0	0	0	0	1	0	0	0	11079	507	18	3	78	3	OR4A15	11	55135435	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	5930703	55135435	79871081	63	9810											
OR5D13	390142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	10	12	2	2	rs369729738		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:55541619C>G	ENST00000361760.1	+	1	706	c.706C>G	c.(706-708)Cgc>Ggc	p.R236G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																					p.R236G		.											.	OR5D13-71	0			c.C706G						.						134	119	124					11																	55541619		2200	4296	6496	SO:0001583	missense	390142	exon1			AGTGGGCGCCAGA	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>G	11.37:g.55541619C>G	ENSP00000354800:p.Arg236Gly	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	91	15	NM_001001967	0	0	0	0	0	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434514	0.43224	.	.	ENSG00000198877	ENST00000361760	T	0.00333	8.07	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	U	0.614455	T	0.00496	0.0016	M	0.88704	2.975	0.09310	N	1	D	0.58268	0.982	P	0.59115	0.852	T	0.17653	-1.0362	10	0.87932	D	0	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	G	236	ENSP00000354800:R236G	ENSP00000354800:R236G	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC	.		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		G	55541619	C	G	55541619	3	3	46	1	0	0	0	0	1	0	0	0	11193	768	27	2	708	2	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	406184	55541619	79464897	64	9811											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	46	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	9338471	64880090	70126426	65	9812											
FAM86C	55199	hgsc.bcm.edu	37	chr11	71498671	71498671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgccctgcgctccttccGctggcaggtgggcggcgggg	19	15	0	0	rs12283346	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:71498671G>C	ENST00000359244.4	+	1	112	c.89G>C	c.(88-90)cGc>cCc	p.R30P	FAM86C1_ENST00000426628.2_Missense_Mutation_p.R30P|FAM86C1_ENST00000346333.6_Missense_Mutation_p.R30P	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	30			R -> P (in dbSNP:rs12283346). {ECO:0000269|PubMed:14702039}.							lung(1)	1						CGCTCCTTCCGCTGGCAGGTG	0.741													.|||	2261	0.451478	0.3351	0.3516	5008	,	,		10448	0.3452		0.5666	False		,,,				2504	0.6708				p.R30P		.											.	FAM86C1-90	0			c.G89C						.						3	3	3					11																	71498671		1774	3427	5201	SO:0001583	missense	55199	exon1			CCTTCCGCTGGCA	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.89G>C	11.37:g.71498671G>C	ENSP00000352182:p.Arg30Pro	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	15	11	NM_152563	0	0	0	0	0	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	871	0.39880952380952384	166	0.33739837398373984	136	0.3756906077348066	173	0.30244755244755245	396	0.5224274406332454	.	1.506	-0.550640	0.03996	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.47	2.47	0.30058	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44483	-0.9325	7	0.02654	T	1	.	7.3824	0.26864	0.0:0.7256:0.2744:0.0	rs12283346	30;30;30	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	P	30	ENSP00000325662:R30P;ENSP00000352182:R30P;ENSP00000391329:R30P;ENSP00000436598:R30P	ENSP00000325662:R30P	R	+	2	0	FAM86C1	71176319	0.633000	0.27181	0.784000	0.31847	0.041000	0.13682	0.888000	0.28268	0.155000	0.19261	-1.123000	0.02005	CGC	G|0.601;C|0.399		0.741	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		C	71498671	G	C	71498671	3	2	46	1	0	0	0	0	1	0	0	0	5668	1087	38	2	91	2	FAM86C	11	71498671	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	6618581	71498671	63507845	66	9813											
KRT75	9119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52828026	52828026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgccggggtgatggcCgaggtggtgctgaagcccct	17	12	0	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:52828026C>T	ENST00000252245.5	-	1	283	c.63G>A	c.(61-63)tcG>tcA	p.S21S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	21	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGGTGATGGCCGAGGTGGTGC	0.677																																					p.S21S		.											.	KRT75-90	0			c.G63A						.						18	23	21					12																	52828026		2164	4252	6416	SO:0001819	synonymous_variant	9119	exon1			GATGGCCGAGGTG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.63G>A	12.37:g.52828026C>T		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	57	17	NM_004693	0	0	0	0	0	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																			.		0.677	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		T	52828026	C	T	52828026	2	4	46	1	0	0	0	0	0	0	0	1	8515	639	23	1		1	KRT75	12	52828026	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		52828026	81023869	67	9814											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	13	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	46	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	43509157	96337183	37514712	68	9815											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	52	25	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	46	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	42	96337225	37514670	69	9816											
ATXN2	6311	hgsc.bcm.edu	37	chr12	112036797	112036797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	14	12	0	0	rs4098854	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000550104.1_Silent_p.Q174Q|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000608853.1_Silent_p.Q14Q|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000535949.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1	1	1					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_002973	0	0	34	36	2	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036797	C	T	112036797	2	4	46	1	0	0	0	0	0	0	0	1	1212	796	28	3		3	ATXN2	12	112036797	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	15699572	112036797	21815098	70	9817											
FAM101A	144347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	124798764	124798764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgaggtcaagtacgcctCggagaagcatttccaggaca	11	11	2	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:124798764C>T	ENST00000389727.3	+	3	344	c.344C>T	c.(343-345)tCg>tTg	p.S115L	FAM101A_ENST00000338359.4_Missense_Mutation_p.S34L|FAM101A_ENST00000324038.3_Missense_Mutation_p.S34L|FAM101A_ENST00000546355.1_Missense_Mutation_p.S34L			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	115										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		AAGTACGCCTCGGAGAAGCAT	0.612																																					p.S34L		.											.	FAM101A-68	0			c.C101T						.						60	51	54					12																	124798764		2203	4300	6503	SO:0001583	missense	144347	exon3			ACGCCTCGGAGAA		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.344C>T	12.37:g.124798764C>T	ENSP00000374377:p.Ser115Leu	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	502	79	NM_181709	0	0	0	0	0	A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.560963	0.86335	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84257	0.0481	9	0.87932	D	0	-3.1421	17.6136	0.88061	0.0:1.0:0.0:0.0	.	115	Q6ZTI6	F101A_HUMAN	L	34;34;115;34;34	.	ENSP00000315626:S34L	S	+	2	0	FAM101A	123364717	1.000000	0.71417	0.698000	0.30274	0.609000	0.37215	7.327000	0.79147	2.148000	0.66965	0.555000	0.69702	TCG	.		0.612	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		T	124798764	C	T	124798764	3	4	46	1	0	0	0	0	1	0	0	0	5399	893	31	1	107	1	FAM101A	12	124798764	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	12761967	124798764	9053131	71	9818											
TUBA3C	7278	bcgsc.ca	37	chr13	19751262	19751262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggtgatctcagccacGgacagctgctcgtggtaggc	14	11	1	1	rs117337915		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:19751262G>A	ENST00000400113.3	-	4	965	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	287					'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)		TCTCAGCCACGGACAGCTGCT	0.602																																					p.S287S		.											.	TUBA3C-95	0			c.C861T						.																																			SO:0001819	synonymous_variant	7278	exon4			AGCCACGGACAGC	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.861C>T	13.37:g.19751262G>A		Somatic	253	4		WXS	Illumina GAIIx	Phase_I	215	25	NM_006001	0	0	0	0	0	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			G|0.999;A|0.001		0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19751262	G	A	19751262	2	1	46	1	0	0	0	0	0	0	0	1	16795	1103	39	1		1	TUBA3C	13	19751262	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		19751262	95418616	72	9819											
UBL3	5412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	30346294	30346294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgtccttgataaataaGtcgtagaatatttggactgc	8	6	0	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:30346294G>T	ENST00000380680.4	-	3	1323	c.178C>A	c.(178-180)Ctt>Att	p.L60I		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGATAAATAAGTCGTAGAATA	0.383																																					p.L60I		.											.	UBL3-90	0			c.C178A						.						148	135	140					13																	30346294		2203	4300	6503	SO:0001583	missense	5412	exon3			AAATAAGTCGTAG	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.178C>A	13.37:g.30346294G>T	ENSP00000370055:p.Leu60Ile	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	29	12	NM_007106	0	0	0	0	0	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974104	0.92919	.	.	ENSG00000122042	ENST00000380680	.	.	.	6.07	6.07	0.98685	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.75884	2.315	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.82384	-0.0484	9	0.59425	D	0.04	-18.4818	19.6407	0.95757	0.0:0.0:1.0:0.0	.	60	O95164	UBL3_HUMAN	I	60	.	ENSP00000370055:L60I	L	-	1	0	UBL3	29244294	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.127000	0.94417	2.890000	0.99128	0.585000	0.79938	CTT	.		0.383	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		T	30346294	G	T	30346294	3	4	46	1	0	0	0	0	1	0	0	0	16935	1029	36	3	187	3	UBL3	13	30346294	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	10595032	30346294	84823584	73	9820											
SOHLH2	54937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	36748932	36748932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgcctcaagaactgaaGccgcatcattctttctccct	6	14	4	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:36748932G>A	ENST00000379881.3	-	7	804	c.716C>T	c.(715-717)gCt>gTt	p.A239V	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A316V|SOHLH2_ENST00000554962.1_Missense_Mutation_p.A316V	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	239	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AAGAACTGAAGCCGCATCATT	0.418																																					p.A316V		.											.	.	0			c.C947T						.						87	86	86					13																	36748932		2203	4300	6503	SO:0001583	missense	100526761	exon12			ACTGAAGCCGCAT	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.716C>T	13.37:g.36748932G>A	ENSP00000369210:p.Ala239Val	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	68	17	NM_001198910	0	0	0	0	0	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419317	0.62622	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.98234	-4.81;-4.81;-4.81	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.096496	0.45867	D	0.000325	D	0.98317	0.9442	L	0.49256	1.55	0.36403	D	0.863257	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99963	1.1785	10	0.87932	D	0	-18.2026	14.041	0.64674	0.0:0.0:1.0:0.0	.	316;239	B4DX90;Q9NX45	.;SOLH2_HUMAN	V	239;316;316	ENSP00000369210:A239V;ENSP00000451542:A316V;ENSP00000421868:A316V	ENSP00000421868:A316V	A	-	2	0	CCDC169-SOHLH2;SOHLH2	35646932	1.000000	0.71417	0.402000	0.26371	0.269000	0.26545	4.800000	0.62524	2.392000	0.81423	0.650000	0.86243	GCT	.		0.418	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		A	36748932	G	A	36748932	3	1	46	1	0	0	0	0	1	0	0	0	14969	971	34	3	581	3	SOHLH2	13	36748932	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	6402638	36748932	78420946	74	9821											
RTN1	6252	broad.mit.edu;bcgsc.ca	37	chr14	60194375	60194375	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcccctgggattctgCagcagatggttctgtcgtcc	11	13	2	1	rs1132362	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:60194375C>G	ENST00000267484.5	-	3	1362	c.1027G>C	c.(1027-1029)Gca>Cca	p.A343P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	343					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGATTCTGCAGCAGATGGT	0.542													C|||	9	0.00179712	8e-04	0.0029	5008	,	,		18422	0		0.005	False		,,,				2504	0.001				p.A343P		.											.	RTN1-516	0			c.G1027C						.	C	PRO/ALA,	21,4371		0,21,2175	23	21	22		1027,	4.6	1	14	dbSNP_132	22	122,8382		0,122,4130	yes	missense,utr-5	RTN1	NM_021136.2,NM_206857.1	27,	0,143,6305	GG,GC,CC		1.4346,0.4781,1.1089	possibly-damaging,	343/777,	60194375	143,12753	2196	4252	6448	SO:0001583	missense	6252	exon3			ATTCTGCAGCAGA	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1027G>C	14.37:g.60194375C>G	ENSP00000267484:p.Ala343Pro	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	82	4	NM_021136	0	0	0	0	0	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	14.58	2.578792	0.46006	0.004781	0.014346	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24908	1.83	5.53	4.56	0.56223	.	0.632124	0.16729	N	0.201940	T	0.14787	0.0357	L	0.36672	1.1	0.36841	D	0.887394	B	0.06786	0.001	B	0.04013	0.001	T	0.06006	-1.0851	10	0.37606	T	0.19	.	11.0512	0.47893	0.4113:0.5887:0.0:0.0	rs1132362	343	Q16799	RTN1_HUMAN	P	343;269	ENSP00000267484:A343P	ENSP00000267484:A343P	A	-	1	0	RTN1	59264128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.319000	0.43788	2.603000	0.88011	0.609000	0.83330	GCA	C|0.988;G|0.012		0.542	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			G	60194375	C	G	60194375	3	3	46	1	0	0	0	0	1	0	0	0	13770	710	25	3	1396	3	RTN1	14	60194375	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		60194375	47155165	75	9822											
TMEM63C	57156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	77723002	77723002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggtctgaggggctttgCgagggagctagactcggccc	18	9	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:77723002C>T	ENST00000298351.4	+	24	2498	c.2354C>T	c.(2353-2355)gCg>gTg	p.A785V		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	785					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGGGGCTTTGCGAGGGAGCTA	0.612																																					p.A785V		.											.	.	0			c.C2354T						.						103	113	110					14																	77723002		1981	4165	6146	SO:0001583	missense	57156	exon24			GCTTTGCGAGGGA		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2354C>T	14.37:g.77723002C>T	ENSP00000298351:p.Ala785Val	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	142	36	NM_020431	0	0	0	0	0	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290084	0.23478	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.18502	2.21	4.84	3.88	0.44766	.	0.585786	0.16217	N	0.224207	T	0.09774	0.0240	N	0.22421	0.69	0.18873	N	0.999983	B	0.34241	0.444	B	0.21917	0.037	T	0.17258	-1.0375	10	0.37606	T	0.19	-6.2036	10.0249	0.42066	0.3186:0.6814:0.0:0.0	.	785	Q9P1W3	TM63C_HUMAN	V	785;355	ENSP00000298351:A785V	ENSP00000298351:A785V	A	+	2	0	TMEM63C	76792755	0.105000	0.21958	0.781000	0.31783	0.087000	0.18053	1.456000	0.35201	2.232000	0.73038	0.655000	0.94253	GCG	.		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			T	77723002	C	T	77723002	3	4	46	1	0	0	0	0	1	0	0	0	16239	768	27	1	2440	1	TMEM63C	14	77723002	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	17528627	77723002	29626538	76	9823											
FLRT2	23768	bcgsc.ca	37	chr14	86089315	86089315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggttaacttagagccccGatccacctatcggatttgtt	8	12	0	1	rs17646457	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:86089315G>A	ENST00000330753.4	+	2	2224	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R486Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	486	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs17646457). {ECO:0000269|PubMed:15489334}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R486Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTAGAGCCCCGATCCACCTAT	0.522													G|||	594	0.11861	0.0189	0.2118	5008	,	,		17172	0.0605		0.1481	False		,,,				2504	0.2168				p.R486Q		.											.	FLRT2-94	1	Substitution - Missense(1)	stomach(1)	c.G1457A						.	G	GLN/ARG	151,4255	103.0+/-141.5	1,149,2053	149	130	136		1457	2.9	1	14	dbSNP_123	136	1287,7313	255.8+/-280.5	107,1073,3120	yes	missense	FLRT2	NM_013231.4	43	108,1222,5173	AA,AG,GG		14.9651,3.4271,11.0564	benign	486/661	86089315	1438,11568	2203	4300	6503	SO:0001583	missense	23768	exon2			AGCCCCGATCCAC	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1457G>A	14.37:g.86089315G>A	ENSP00000332879:p.Arg486Gln	Somatic	261	3		WXS	Illumina GAIIx	Phase_I	255	8	NM_013231	0	0	0	0	0	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	224	0.10256410256410256	13	0.026422764227642278	65	0.17955801104972377	36	0.06293706293706294	110	0.14511873350923482	G	9.487	1.099582	0.20552	0.034271	0.149651	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56776	0.44;0.44	5.87	2.87	0.33458	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.339988	0.32120	N	0.006545	T	0.00073	0.0002	N	0.19112	0.55	0.28600	P	0.9092117	B	0.11235	0.004	B	0.09377	0.004	T	0.09079	-1.0691	9	0.21540	T	0.41	-5.0916	5.9999	0.19515	0.4962:0.0:0.5038:0.0	rs17646457;rs52800076;rs17646457	486	O43155	FLRT2_HUMAN	Q	486;486;139	ENSP00000332879:R486Q;ENSP00000451050:R486Q	ENSP00000332879:R486Q	R	+	2	0	FLRT2	85159068	1.000000	0.71417	0.989000	0.46669	0.367000	0.29736	3.060000	0.49955	0.865000	0.35603	0.655000	0.94253	CGA	G|0.899;A|0.101		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			A	86089315	G	A	86089315	3	1	46	1	0	0	0	0	1	0	0	0	5961	1058	37	1	1459	1	FLRT2	14	86089315	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	8366313	86089315	21260225	77	9824											
MPI	4351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75185139	75185139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagattgtaacctttctAaagagtaagttgggcagaat	12	4	1	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr15:75185139A>G	ENST00000352410.4	+	4	550	c.483A>G	c.(481-483)ctA>ctG	p.L161L	MPI_ENST00000564003.1_Silent_p.L111L|MPI_ENST00000563786.1_Silent_p.L141L|MPI_ENST00000535694.1_Silent_p.L111L|MPI_ENST00000566377.1_Silent_p.L161L|MPI_ENST00000565576.1_Silent_p.L161L|MPI_ENST00000563422.1_Silent_p.L161L|MPI_ENST00000323744.6_Silent_p.L161L|MPI_ENST00000562606.1_Silent_p.L141L			P34949	MPI_HUMAN	mannose phosphate isomerase	161					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TAACCTTTCTAAAGAGTAAGT	0.547																																					p.L161L		.											.	MPI-92	0			c.A483G						.						72	74	73					15																	75185139		2197	4295	6492	SO:0001819	synonymous_variant	4351	exon4			CTTTCTAAAGAGT		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.483A>G	15.37:g.75185139A>G		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	103	33	NM_002435	0	0	0	0	0	A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	CCDS10272.1																																																																																			.		0.547	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			G	75185139	A	G	75185139	2	3	46	1	0	0	0	0	0	0	0	1	9767	349	13	4		4	MPI	15	75185139	Silent	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10		75185139	27346253	78	9825											
PKD1	5310	hgsc.bcm.edu	37	chr16	2140972	2140972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgaagctagtgaagcgGcgcgggcggccgcgcacgaa	18	11	0	1	rs77634115	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:2140972G>A	ENST00000262304.4	-	43	12124	c.11916C>T	c.(11914-11916)cgC>cgT	p.R3972R	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.R3971R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3972					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						TAGTGAAGCGGCGCGGGCGGC	0.721													g|||	25	0.00499201	0.0023	0.0014	5008	,	,		9103	0		0.0189	False		,,,				2504	0.002				p.R3972R		.											.	PKD1-91	0			c.C11916T						.		,	25,3925		0,25,1950	4	6	5		11913,11916	3.1	0.2	16	dbSNP_133	5	214,7538		0,214,3662	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,239,5612	AA,AG,GG		2.7606,0.6329,2.0424	,	3971/4303,3972/4304	2140972	239,11463	1975	3876	5851	SO:0001819	synonymous_variant	5310	exon43			GAAGCGGCGCGGG	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.11916C>T	16.37:g.2140972G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	22	12	NM_001009944	0	0	4	8	4	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.989;A|0.011		0.721	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2140972	G	A	2140972	2	1	46	1	0	0	0	0	0	0	0	1	12002	1190	42	3		3	PKD1	16	2140972	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		2140972	88213781	79	9826											
AMDHD2	752014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2580311	2580311	+	3'UTR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtgctggagggcagtatggGaggcaccagtgtgccctgct	18	9	0	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:2580311G>C	ENST00000567119.1	-	0	1098				CEMP1_ENST00000382350.1_3'UTR|AMDHD2_ENST00000413459.3_Missense_Mutation_p.E446Q|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|MIR3178_ENST00000581887.1_RNA	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1							cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GGCAGTATGGGAGGCACCAGT	0.587																																					p.E446Q		.											.	AMDHD2-155	0			c.G1336C						.						55	61	59					16																	2580311		2142	4248	6390	SO:0001624	3_prime_UTR_variant	51005	exon11			GTATGGGAGGCAC	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.*20C>G	16.37:g.2580311G>C		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	144	31	NM_001145815	0	0	13	13	0	B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	G	9.936	1.216247	0.22373	.	.	ENSG00000162066	ENST00000413459	.	.	.	1.92	-3.6	0.04570	.	.	.	.	.	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.18618	-1.0331	8	0.87932	D	0	-23.2471	0.3452	0.00340	0.2875:0.1971:0.3159:0.1996	.	446	Q9Y303-3	.	Q	446	.	ENSP00000391596:E446Q	E	+	1	0	AMDHD2	2520312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.514000	0.06298	-0.933000	0.03737	-0.314000	0.08810	GAG	.		0.587	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		C	2580311	G	C	2580311	1	2	46	0	1	0	0	0	0	0	0	0	568	1175	41	3		3	AMDHD2	16	2580311	3'UTR	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	439339	2580311	87774442	80	9827											
KIAA0174	9798	ucsc.edu	37	chr16	71956529	71956529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgcccatgcccatgccCatgcctatgccatctgcaaa	6	17	1	0	rs28701631	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000541571.2_Silent_p.P235P|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000378798.5_Silent_p.P235P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000538565.1_3'UTR|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000535424.1_Silent_p.P248P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186				p.P248P		.											.	.	0			c.C744T						.						101	73	83					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	9798	exon8			CATGCCCATGCCT	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	131	15	NM_001270976	0	0	1	1	0	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA	C|0.988;T|0.012		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		T	71956529	C	T	71956529	2	4	46	1	0	0	0	0	0	0	0	1	8185	581	21	3		3	KIAA0174	16	71956529	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	69376218	71956529	18398224	81	9828											
FA2H	79152	broad.mit.edu;bcgsc.ca	37	chr16	74752999	74752999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcgatgaggctccagaGgaatgtccccagcatgaaga	12	10	0	4			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:74752999G>A	ENST00000219368.3	-	5	742	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	FA2H_ENST00000544337.1_Missense_Mutation_p.L12F	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	225					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGGCTCCAGAGGAATGTCCCC	0.592																																					p.L225F		.											.	FA2H-90	0			c.C673T						.						89	75	80					16																	74752999		2198	4300	6498	SO:0001583	missense	79152	exon5			TCCAGAGGAATGT	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.673C>T	16.37:g.74752999G>A	ENSP00000219368:p.Leu225Phe	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	170	6	NM_024306	0	0	0	0	0	B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	G	8.045	0.764744	0.15914	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.85556	-2.0;-2.0	5.57	-2.13	0.07144	Fatty acid hydroxylase (1);	0.649214	0.15902	N	0.239032	T	0.72145	0.3424	L	0.46741	1.465	0.26180	N	0.979737	B	0.20368	0.044	B	0.25987	0.065	T	0.54476	-0.8288	10	0.10636	T	0.68	-3.446	2.0439	0.03556	0.1979:0.0939:0.327:0.3812	.	225	Q7L5A8	FA2H_HUMAN	F	225;12	ENSP00000219368:L225F;ENSP00000442334:L12F	ENSP00000219368:L225F	L	-	1	0	FA2H	73310500	0.988000	0.35896	0.057000	0.19452	0.249000	0.25844	0.200000	0.17257	-0.199000	0.10317	-0.310000	0.09108	CTC	.		0.592	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		A	74752999	G	A	74752999	3	1	46	1	0	0	0	0	1	0	0	0	5371	1000	35	3	457	3	FA2H	16	74752999	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	2796470	74752999	15601754	82	9829											
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	83378514	83378514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaactctcgaggggccGgtgcctctggaagtcattgt	14	10	3	0	rs201452763		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:83378514G>T	ENST00000566620.1	+	6	974	c.684G>T	c.(682-684)ccG>ccT	p.P228P	CDH13_ENST00000268613.10_Silent_p.P275P|CDH13_ENST00000428848.3_Silent_p.P189P|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	228	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCGAGGGGCCGGTGCCTCTGG	0.473																																					p.P275P		.											.	CDH13-67	0			c.G825T						.						84	86	85					16																	83378514		1874	4096	5970	SO:0001819	synonymous_variant	1012	exon7			GGGGCCGGTGCCT	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.684G>T	16.37:g.83378514G>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	114	17	NM_001220488	0	0	0	0	0	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																			.		0.473	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		T	83378514	G	T	83378514	2	4	46	1	0	0	0	0	0	0	0	1	3106	1103	39	2		2	CDH13	16	83378514	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	8625515	83378514	6976239	83	9830											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	29	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	46	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5L6-01A-11D-A29I-10	5221183	88599697	1755056	84	9831											
DULLARD	23399	bcgsc.ca	37	chr17	7149369	7149369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggctcctgtaagcccctgGggagttatccaggatcacaa	11	11	1	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:7149369G>T	ENST00000573600.1	-	7	986	c.565C>A	c.(565-567)Cca>Aca	p.P189T	CTDNEP1_ENST00000318988.6_Missense_Mutation_p.P189T|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000572043.1_Missense_Mutation_p.P56T|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.P189T			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	189	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TAAGCCCCTGGGGAGTTATCC	0.557																																					p.P189T		.											.	CTDNEP1-91	0			c.C565A						.						70	67	68					17																	7149369		2203	4300	6503	SO:0001583	missense	23399	exon6			CCCCTGGGGAGTT	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.565C>A	17.37:g.7149369G>T	ENSP00000461749:p.Pro189Thr	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_001143775	0	0	26	26	0	D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253948	0.80135	.	.	ENSG00000175826	ENST00000318988	T	0.21031	2.03	5.02	5.02	0.67125	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.93150	3.385	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.68876	-0.5293	10	0.87932	D	0	-4.9166	15.8796	0.79193	0.0:0.0:1.0:0.0	.	189	O95476	CNEP1_HUMAN	T	189	ENSP00000321732:P189T	ENSP00000321732:P189T	P	-	1	0	CTDNEP1	7090093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.120000	0.89581	2.608000	0.88229	0.591000	0.81541	CCA	.		0.557	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		T	7149369	G	T	7149369	3	4	46	1	0	0	0	0	1	0	0	0	4813	1232	43	3	181	3	DULLARD	17	7149369	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		7149369	74045841	85	9832											
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	10310241	10310241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcattgggaatgatacacCgtacgaagtgagggtgtgtg	14	5	1	2	rs121434590		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:10310241C>T	ENST00000403437.2	-	18	2115	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	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	674	Actin-binding.|Myosin motor.		R -> Q (in CACOV and DA7; dbSNP:rs28932773). {ECO:0000269|PubMed:15282353, ECO:0000269|PubMed:20949528}.		ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATGATACACCGTACGAAGTG	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R674Q		.											.	MYH8-101	0			c.G2021A	GRCh37	CM042090	MYH8	M	rs121434590	.						103	93	97					17																	10310241		2203	4300	6503	SO:0001583	missense	4626	exon18	Familial Cancer Database	Carney Complex Variant	ATACACCGTACGA		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.2021G>A	17.37:g.10310241C>T	ENSP00000384330:p.Arg674Gln	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	116	27	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371215	0.95923	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90563	-2.69	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.39909	U	0.001235	D	0.97576	0.9206	H	0.99058	4.415	0.58432	A	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99107	1.0845	9	0.87932	D	0	.	18.6502	0.91428	0.0:1.0:0.0:0.0	rs28932773	674	P13535	MYH8_HUMAN	Q	674	ENSP00000384330:R674Q	ENSP00000252173:R674Q	R	-	2	0	MYH8	10250966	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.534000	0.82004	2.652000	0.90054	0.650000	0.86243	CGG	.		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10310241	C	T	10310241	3	4	46	1	0	0	0	0	1	0	0	0	10079	652	23	1	3884	1	MYH8	17	10310241	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	3160872	10310241	70884969	86	9833											
EPN3	55040	broad.mit.edu	37	chr17	48614456	48614456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggactacagccgctcccGgggctccccgtcctcctaca	10	19	0	0	rs149893296	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:48614456G>A	ENST00000268933.3	+	2	1118	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	EPN3_ENST00000537145.1_Missense_Mutation_p.R235Q|EPN3_ENST00000541226.1_Missense_Mutation_p.R124Q|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	180						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGCCGCTCCCGGGGCTCCCCG	0.657													G|||	16	0.00319489	0	0.0029	5008	,	,		16174	0		0.0099	False		,,,				2504	0.0041				p.R180Q		.											.	EPN3-91	0			c.G539A						.	G	GLN/ARG	2,4060		0,2,2029	10	11	10		539	1.9	0	17	dbSNP_134	10	39,8083		0,39,4022	yes	missense	EPN3	NM_017957.2	43	0,41,6051	AA,AG,GG		0.4802,0.0492,0.3365	possibly-damaging	180/633	48614456	41,12143	2031	4061	6092	SO:0001583	missense	55040	exon2			GCTCCCGGGGCTC	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.539G>A	17.37:g.48614456G>A	ENSP00000268933:p.Arg180Gln	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	94	4	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	18.06	3.539724	0.65085	4.92E-4	0.004802	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.48836	2.35;2.39;0.8	5.07	1.87	0.25490	.	0.523762	0.17802	N	0.161533	T	0.49389	0.1554	L	0.56769	1.78	0.09310	N	1	D;D;P	0.89917	1.0;1.0;0.796	D;D;B	0.85130	0.996;0.997;0.194	T	0.48091	-0.9065	10	0.14252	T	0.57	-4.0309	9.5206	0.39133	0.2441:0.0:0.7559:0.0	.	235;235;180	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	Q	180;235;235;124;180	ENSP00000268933:R180Q;ENSP00000439512:R235Q;ENSP00000440540:R124Q	ENSP00000268933:R180Q	R	+	2	0	EPN3	45969455	0.651000	0.27340	0.000000	0.03702	0.015000	0.08874	3.797000	0.55514	0.131000	0.18576	0.561000	0.74099	CGG	G|0.996;A|0.004		0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48614456	G	A	48614456	3	1	46	1	0	0	0	0	1	0	0	0	5203	1116	39	1	541	1	EPN3	17	48614456	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	38304215	48614456	32580754	87	9834											
CPLX4	339302	hgsc.bcm.edu;bcgsc.ca	37	chr18	56979929	56979929	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttacctttgggagcctGtatttttctctgagatgaac	9	8	2	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr18:56979929G>T	ENST00000299721.3	-	2	429	c.243C>A	c.(241-243)taC>taA	p.Y81*	CPLX4_ENST00000587244.1_Nonsense_Mutation_p.Y81*	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	81					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				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)				TTGGGAGCCTGTATTTTTCTC	0.373																																					p.Y81X		.											.	CPLX4-91	0			c.C243A						.						112	104	107					18																	56979929		2203	4300	6503	SO:0001587	stop_gained	339302	exon2			GAGCCTGTATTTT	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.243C>A	18.37:g.56979929G>T	ENSP00000299721:p.Tyr81*	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_181654	0	0	0	0	0	F1T0L6	Nonsense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	G	36	5.920541	0.97105	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.22	2.45	0.29901	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8174	9.6173	0.39698	0.2897:0.0:0.7103:0.0	.	.	.	.	X	81	.	ENSP00000299721:Y81X	Y	-	3	2	CPLX4	55130909	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.596000	0.54024	0.714000	0.32081	-0.751000	0.03497	TAC	.		0.373	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		T	56979929	G	T	56979929	4	4	46	1	0	0	0	0	0	1	0	0	3814	1372	48	3	247	3	CPLX4	18	56979929	Nonsense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		56979929	21097319	88	9835											
ATP9B	374868	hgsc.bcm.edu	37	chr18	76829525	76829525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggagccgaccggcacAgcaggtaaccgaggcggcac	17	14	0	0	rs4078115	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr18:76829525A>G	ENST00000426216.2	+	1	132	c.115A>G	c.(115-117)Agc>Ggc	p.S39G	ATP9B_ENST00000586722.1_Missense_Mutation_p.S39G|ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.S39G	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	39			S -> G (in dbSNP:rs4078115). {ECO:0000269|PubMed:15489334}.		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)		CGACCGGCACAGCAGGTAACC	0.771													a|||	1574	0.314297	0.2277	0.2046	5008	,	,		9814	0.4494		0.2565	False		,,,				2504	0.4294				p.S39G		.											.	ATP9B-93	0			c.A115G						.		GLY/SER	504,2920		44,416,1252	3	4	4		115	-0.3	1	18	dbSNP_108	4	1215,5401		129,957,2222	no	missense	ATP9B	NM_198531.3	56	173,1373,3474	GG,GA,AA		18.3646,14.7196,17.1215	benign	39/1148	76829525	1719,8321	1712	3308	5020	SO:0001583	missense	374868	exon1			CGGCACAGCAGGT	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.115A>G	18.37:g.76829525A>G	ENSP00000398076:p.Ser39Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	14	13	NM_198531	0	0	0	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	670	0.3067765567765568	104	0.21138211382113822	83	0.2292817679558011	281	0.49125874125874125	202	0.26649076517150394	a	7.584	0.669300	0.14776	0.147196	0.183646	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56103	0.48;0.48	2.56	-0.308	0.12773	.	1.710450	0.03865	N	0.274617	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999821082	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41016	-0.9532	9	0.23302	T	0.38	.	4.8264	0.13417	0.5235:0.0:0.4765:0.0	rs4078115;rs4327119	39;39;39	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	G	39	ENSP00000398076:S39G;ENSP00000304500:S39G	ENSP00000304500:S39G	S	+	1	0	ATP9B	74930513	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	1.165000	0.31822	-0.197000	0.10350	-0.465000	0.05216	AGC	A|0.693;G|0.307		0.771	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		G	76829525	A	G	76829525	3	3	46	1	0	0	0	0	1	0	0	0	1200	188	7	4	117	4	ATP9B	18	76829525	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	19849596	76829525	1247723	89	9836											
KHSRP	8570	broad.mit.edu	37	chr19	6417772	6417772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgaactgtatccgcacGccagcatcattctggatctt	8	12	3	1	rs375087226		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:6417772G>A	ENST00000398148.3	-	11	1151	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	353	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTATCCGCACGCCAGCATCAT	0.632																																					p.G353G	Colon(55;593 1006 2067 9135 22980)	.											.	KHSRP-226	0			c.C1059T						.	G		0,4252		0,0,2126	66	72	70		1059	-10.1	0	19		70	6,8486		0,6,4240	no	coding-synonymous	KHSRP	NM_003685.2		0,6,6366	AA,AG,GG		0.0707,0.0,0.0471		353/712	6417772	6,12738	2126	4246	6372	SO:0001819	synonymous_variant	8570	exon11			CCGCACGCCAGCA	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1059C>T	19.37:g.6417772G>A		Somatic	89	1		WXS	Illumina GAIIx	Phase_I	131	6	NM_003685	0	0	12	12	0	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	CCDS45936.1																																																																																			.		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			A	6417772	G	A	6417772	2	1	46	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KHSRP	19	6417772	Silent	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		6417772	52711211	90	9837											
EVI5L	115704	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	7915003	7915004	+	Frame_Shift_Ins	INS	-	-	T													ctatcagttcgagtacatgcINStgcaggtgagcagggccgca							TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:7915003_7915004insT	ENST00000270530.4	+	6	944_945	c.748_749insT	c.(748-750)ctgfs	p.L250fs	EVI5L_ENST00000538904.2_Frame_Shift_Ins_p.L250fs	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	250	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CGAGTACATGCTGCAGGTGAGC	0.653																																					p.L250fs		.											.	EVI5L-91	0			c.748_749insT						.																																			SO:0001589	frameshift_variant	115704	exon5			TACATGCTGCAGG	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.749dupT	19.37:g.7915004_7915004dupT	ENSP00000270530:p.Leu250fs	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_001159944	0	0	0	0	0	B9A6I9	Frame_Shift_Ins	INS	ENST00000270530.4	37	CCDS12188.1																																																																																			.		0.653	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		T	7915004	-	T	7915003	7	5	46	1	0	1	1	0	0	0	0	0	5306	796	28	0	766	0	EVI5L	19	7915003	Frame_Shift_Ins	INS	-	TCGA-OR-A5L6-01A-11D-A29I-10	1497231	7915003	51213980	91	9838											
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9063150	9063150	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaaagccaggagttgatgtgGagacactcgtatcctccatg	11	9	0	2	rs542234427		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:9063150G>C	ENST00000397910.4	-	3	24499	c.24296C>G	c.(24295-24297)tCc>tGc	p.S8099C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8101	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						AGTTGATGTGGAGACACTCGT	0.488																																					p.S8099C		.											.	MUC16-566	0			c.C24296G						.						122	119	120					19																	9063150		2051	4212	6263	SO:0001583	missense	94025	exon3			GATGTGGAGACAC	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.24296C>G	19.37:g.9063150G>C	ENSP00000381008:p.Ser8099Cys	Somatic	234	1		WXS	Illumina GAIIx	Phase_I	291	105	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.286	-0.146063	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.39592	1.07	3.0	0.829	0.18847	.	.	.	.	.	T	0.50429	0.1615	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.68353	0.957	T	0.56703	-0.7935	8	0.87932	D	0	.	5.2186	0.15356	0.2813:0.0:0.7187:0.0	.	8099	B5ME49	.	C	8099	ENSP00000381008:S8099C	ENSP00000381008:S8099C	S	-	2	0	MUC16	8924150	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.467000	0.22035	0.314000	0.23086	-0.357000	0.07601	TCC	.		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9063150	G	C	9063150	3	2	46	1	0	0	0	0	1	0	0	0	10011	1174	41	3	19555	3	MUC16	19	9063150	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	1148147	9063150	50065833	92	9839											
LPPR2	64748	broad.mit.edu	37	chr19	11472132	11472132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccctgcaaggatgcgGccctctgcgcctacgcggtc	11	18	1	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:11472132G>T	ENST00000251473.5	+	6	1007	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A186S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CAAGGATGCGGCCCTCTGCGC	0.692																																					p.A211S		.											.	LPPR2-153	0			c.G631T						.						26	29	28					19																	11472132		2199	4277	6476	SO:0001583	missense	0	exon6			GATGCGGCCCTCT																												ENST00000251473.5:c.631G>T	19.37:g.11472132G>T	ENSP00000251473:p.Ala211Ser	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	106	9	NM_022737	0	0	1	1	0		Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	g	33	5.243323	0.95272	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.36	5.36	0.76844	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16166	0.38	0.80722	D	1	P;P	0.45902	0.851;0.868	P;P	0.59012	0.58;0.85	T	0.64415	-0.6413	10	0.02654	T	1	-25.3512	17.8761	0.88825	0.0:0.0:1.0:0.0	.	186;211	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	211	ENSP00000251473:A211S	ENSP00000251473:A211S	A	+	1	0	AC024575.1	11333132	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.161000	0.77505	2.524000	0.85096	0.550000	0.68814	GCC	.		0.692	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			T	11472132	G	T	11472132	3	4	46	1	0	0	0	0	1	0	0	0	8960	1203	42	3	645	3	LPPR2	19	11472132	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	2408982	11472132	47656851	93	9840											
EMR2	30817	bcgsc.ca	37	chr19	14877820	14877820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgggtcctcaggtttgaGcttgaagccaggcaggcact	13	11	1	2	rs12976493	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:14877820G>A	ENST00000315576.3	-	6	908	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	EMR2_ENST00000392965.3_Missense_Mutation_p.L153F|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.L153F|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L153F|EMR2_ENST00000596991.2_Missense_Mutation_p.L153F|EMR2_ENST00000601345.1_Missense_Mutation_p.L153F|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.L153F|EMR2_ENST00000353005.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCAGGTTTGAGCTTGAAGCCA	0.597													G|||	2024	0.404153	0.5749	0.4366	5008	,	,		12315	0.3373		0.4473	False		,,,				2504	0.1748				p.L153F		.											.	EMR2-524	0			c.C457T						.						58	59	59					19																	14877820		1523	3365	4888	SO:0001583	missense	30817	exon5			GTTTGAGCTTGAA	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.457C>T	19.37:g.14877820G>A	ENSP00000319883:p.Leu153Phe	Somatic	118	8		WXS	Illumina GAIIx	Phase_I	35	26	NM_001271052	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	767	0.35119047619047616	232	0.4715447154471545	141	0.38950276243093923	148	0.25874125874125875	246	0.3245382585751979	G	0.014	-1.577939	0.00879	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;T;D;D	0.88741	-2.42;-2.42;-1.42;-2.42;-2.42	3.06	-6.11	0.02131	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.48218	1.51	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.15954	-1.0419	8	0.09843	T	0.71	.	6.3278	0.21253	0.607:0.0:0.2568:0.1362	rs12976493	153;153;153;153	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	F	153	ENSP00000319883:L153F;ENSP00000376694:L153F;ENSP00000263380:L153F;ENSP00000376692:L153F;ENSP00000376689:L153F	ENSP00000319883:L153F	L	-	1	0	EMR2	14738820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-1.716000	0.01387	-1.973000	0.00462	CTC	A|1.000;|0.000		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14877820	G	A	14877820	3	1	46	1	0	0	0	0	1	0	0	0	5121	971	34	3	2078	3	EMR2	19	14877820	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	3405688	14877820	44251163	94	9841											
C19orf2	8725	hgsc.bcm.edu	37	chr19	30433556	30433556	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggatgtggcgcggctgcgCgaggagcaggaaaaggtaac	18	9	0	0	rs200928000	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:30433556C>G	ENST00000542441.2	+	1	399	c.102C>G	c.(100-102)cgC>cgG	p.R34R	URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.A6G|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	34					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)										CGCGGCTGCGCGAGGAGCAGG	0.776													C|||	17	0.00339457	0	0.0101	5008	,	,		7113	0		0.0099	False		,,,				2504	0				p.R34R		.											.	.	0			c.C102G						.	C	,GLY/ALA	3,3051		0,3,1524	6	8	7		102,17	-2.4	1	19		7	53,6939		1,51,3444	yes	coding-synonymous,missense	C19orf2	NM_003796.2,NM_134447.1	,60	1,54,4968	GG,GC,CC		0.758,0.0982,0.5574	,	34/536,6/496	30433556	56,9990	1527	3496	5023	SO:0001819	synonymous_variant	8725	exon1			GCTGCGCGAGGAG	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.102C>G	19.37:g.30433556C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_003796	0	0	0	1	1	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287446	0.23478	9.82E-4	0.00758	ENSG00000105176	ENST00000312051	.	.	.	3.32	-2.44	0.06502	.	.	.	.	.	T	0.29458	0.0734	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21930	-1.0231	7	0.52906	T	0.07	-0.0125	1.3928	0.02254	0.3751:0.3186:0.1845:0.1218	.	6	F8W9T0	.	G	6	.	ENSP00000312530:A6G	A	+	2	0	C19orf2	35125396	0.990000	0.36364	0.995000	0.50966	0.957000	0.61999	-0.249000	0.08842	-0.108000	0.12066	0.305000	0.20034	GCG	C|0.986;G|0.013		0.776	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		G	30433556	C	G	30433556	2	3	46	1	0	0	0	0	0	0	0	1	1918	768	27	2		2	C19orf2	19	30433556	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	15555736	30433556	28695427	95	9842											
RHPN2	85415	ucsc.edu	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	9	16	1	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	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		.											.	RHPN2-516	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	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	30	8	NM_033103	0	0	0	0	0	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	46	1	0	0	0	0	1	0	0	0	13396	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	3083951	33517507	25611476	96	9843											
CATSPERG	57828	broad.mit.edu	37	chr19	38827960	38827960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccctgctggcagtgcTcctggcgtcgtggaggctgt	18	11	0	0	rs2302182	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:38827960T>C	ENST00000409235.3	+	2	201	c.86T>C	c.(85-87)cTc>cCc	p.L29P	CATSPERG_ENST00000215069.4_Missense_Mutation_p.L45P|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L29P	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	29			L -> P (in dbSNP:rs2302182). {ECO:0000269|PubMed:17974005}.		cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGGCAGTGCTCCTGGCGTCG	0.622													t|||	751	0.14996	0.0348	0.2378	5008	,	,		16010	0.1339		0.1849	False		,,,				2504	0.2239				p.L29P		.											.	CATSPERG-92	0			c.T86C						.		PRO/LEU	94,1290		4,86,602	132	118	122		86	3.3	0	19	dbSNP_100	122	494,2688		39,416,1136	yes	missense	CATSPERG	NM_021185.4	98	43,502,1738	CC,CT,TT		15.5248,6.7919,12.8778	probably-damaging	29/1160	38827960	588,3978	692	1591	2283	SO:0001583	missense	57828	exon2			CAGTGCTCCTGGC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.86T>C	19.37:g.38827960T>C	ENSP00000386962:p.Leu29Pro	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	115	3	NM_021185	0	0	1	1	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	331	0.15155677655677655	17	0.034552845528455285	87	0.24033149171270718	85	0.1486013986013986	142	0.18733509234828497	t	14.33	2.502586	0.44455	0.067919	0.155248	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.3	3.3	0.37823	.	0.000000	0.32736	N	0.005711	T	0.00039	0.0001	L	0.56769	1.78	0.45427	P	0.001595000000000013	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05289	-1.0894	9	0.59425	D	0.04	-9.8134	8.3357	0.32213	0.0:0.0:0.0:1.0	rs2302182;rs52832791;rs2302182	29;29	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	P	29;29;29;45	ENSP00000387057:L29P;ENSP00000386962:L29P;ENSP00000386950:L29P;ENSP00000215069:L45P	ENSP00000215069:L45P	L	+	2	0	CATSPERG	43519800	0.190000	0.23276	0.025000	0.17156	0.004000	0.04260	1.135000	0.31454	1.760000	0.52011	0.370000	0.22315	CTC	T|0.855;C|0.145		0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		C	38827960	T	C	38827960	3	2	46	1	0	0	0	0	1	0	0	0	2699	1551	54	4	88	4	CATSPERG	19	38827960	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	5310453	38827960	20301023	97	9844											
PTPRA	5786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2945574	2945574	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaccagttaaagaagaggcCaaaacttcaaatccaacttc	6	10	1	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:2945574C>G	ENST00000216877.6	+	5	541	c.141C>G	c.(139-141)gcC>gcG	p.A47A	PTPRA_ENST00000318266.5_Silent_p.A47A|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000380393.3_Silent_p.A47A|PTPRA_ENST00000356147.3_Silent_p.A47A|PTPRA_ENST00000399903.2_Silent_p.A47A|PTPRA_ENST00000425918.2_Silent_p.A58A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	47					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A47A(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGAGGCCAAAACTTCAA	0.383																																					p.A47A		.											.	PTPRA-227	1	Substitution - coding silent(1)	lung(1)	c.C141G						.						105	97	100					20																	2945574		2203	4300	6503	SO:0001819	synonymous_variant	5786	exon9			AGAGGCCAAAACT		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.141C>G	20.37:g.2945574C>G		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	159	28	NM_002836	0	0	0	1	1	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	CCDS13039.1																																																																																			.		0.383	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			G	2945574	C	G	2945574	2	3	46	1	0	0	0	0	0	0	0	1	12840	581	21	3		3	PTPRA	20	2945574	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		2945574	60079946	98	9845											
ADAM33	80332	hgsc.bcm.edu	37	chr20	3654433	3654433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccgctgcgcccacagCccccggcgccactgcaggaa	14	18	0	0	rs2271511	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:3654433C>T	ENST00000356518.2	-	9	1105	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ADAM33_ENST00000350009.2_Silent_p.G288G|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000379861.4_Silent_p.G288G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	288	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						GCGCCCACAGCCCCCGGCGCC	0.771													C|||	1379	0.275359	0.4319	0.1354	5008	,	,		9169	0.2212		0.1869	False		,,,				2504	0.3098				p.G288G		.											.	ADAM33-291	0			c.G864A						.	C	,	1271,2579		236,799,890	4	5	4		864,864	-0.6	0	20	dbSNP_100	4	1108,6216		89,930,2643	no	coding-synonymous,coding-synonymous	ADAM33	NM_025220.2,NM_153202.1	,	325,1729,3533	TT,TC,CC		15.1283,33.013,21.2905	,	288/814,288/788	3654433	2379,8795	1925	3662	5587	SO:0001819	synonymous_variant	80332	exon9			CCACAGCCCCCGG	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.864G>A	20.37:g.3654433C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	9	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																			C|0.751;T|0.249		0.771	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		T	3654433	C	T	3654433	2	4	46	1	0	0	0	0	0	0	0	1	250	726	26	3		3	ADAM33	20	3654433	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	708859	3654433	59371087	99	9846											
INSM1	3642	hgsc.bcm.edu	37	chr20	20348962	20348962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtccacgcccgtttcCtaccgggtccgcggcggcga	13	15	0	1	rs111558392	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:20348962C>T	ENST00000310227.1	+	1	198	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	17	Ala/Gly/Pro-rich.|SNAG domain. {ECO:0000250}.				adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCCCGTTTCCTACCGGGTCC	0.781													C|||	370	0.0738818	0.0772	0.0879	5008	,	,		1364	0.0079		0.1143	False		,,,				2504	0.0859				p.S17S		.											.	INSM1-91	0			c.C51T						.	C		337,3769		13,311,1729	5	6	6		51	2.2	1	20	dbSNP_132	6	1083,6975		78,927,3024	no	coding-synonymous	INSM1	NM_002196.2		91,1238,4753	TT,TC,CC		13.4401,8.2075,11.6738		17/511	20348962	1420,10744	2053	4029	6082	SO:0001819	synonymous_variant	3642	exon1			CGTTTCCTACCGG		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.51C>T	20.37:g.20348962C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_002196	0	0	0	0	0		Silent	SNP	ENST00000310227.1	37	CCDS13143.1																																																																																			C|0.912;T|0.088		0.781	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		T	20348962	C	T	20348962	2	4	46	1	0	0	0	0	0	0	0	1	7798	668	24	3		3	INSM1	20	20348962	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	16694529	20348962	42676558	100	9847											
PIGU	128869	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	33225690	33225693	+	Frame_Shift_Del	DEL	CTTT	CTTT	-													gaatacttacaacagggccaCtttcaaagggatgtaacgca							TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	CTTT	CTTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:33225690_33225693delCTTT	ENST00000374820.2	-	4	375_378	c.355_358delAAAG	c.(355-360)aaagtgfs	p.KV119fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.KV139fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	139					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AACAGGGCCACTTTCAAAGGGATG	0.446																																					p.139_140del		.											.	PIGU-226	0			c.415_418del						.																																			SO:0001589	frameshift_variant	128869	exon5			GGGCCACTTTCAA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.355_358delAAAG	20.37:g.33225690_33225693delCTTT	ENSP00000363953:p.Lys119fs	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	159	35	NM_080476	0	0	0	0	0	Q7Z489|Q8N2F2	Frame_Shift_Del	DEL	ENST00000374820.2	37																																																																																				.		0.446	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		-	33225693	CTTT	-	33225690	7	5	46	1	0	1	0	1	0	0	0	0	11939	565	20	0	921	0	PIGU	20	33225690	Frame_Shift_Del	DEL	CTTT	TCGA-OR-A5L6-01A-11D-A29I-10	12876728	33225690	29799830	101	9848											
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47605959	47605959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcacctggaccatgtcCggccaatgttcaaagtgagt	9	13	2	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:47605959C>T	ENST00000371917.4	+	19	2671	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	891					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGACCATGTCCGGCCAATGTT	0.502																																					p.R891W	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											.	ARFGEF2-358	0			c.C2671T						.						87	76	80					20																	47605959		2203	4300	6503	SO:0001583	missense	10564	exon19			CATGTCCGGCCAA	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.2671C>T	20.37:g.47605959C>T	ENSP00000360985:p.Arg891Trp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	191	96	NM_006420	0	0	0	0	0	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951323	0.73787	.	.	ENSG00000124198	ENST00000371917	T	0.29397	1.57	5.87	4.88	0.63580	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66736	-0.5848	10	0.87932	D	0	.	13.9896	0.64357	0.2579:0.7421:0.0:0.0	.	891	Q9Y6D5	BIG2_HUMAN	W	891	ENSP00000360985:R891W	ENSP00000360985:R891W	R	+	1	2	ARFGEF2	47039366	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.184000	0.32053	2.941000	0.99782	0.655000	0.94253	CGG	.		0.502	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		T	47605959	C	T	47605959	3	4	46	1	0	0	0	0	1	0	0	0	853	643	23	1	2745	1	ARFGEF2	20	47605959	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	14380269	47605959	15419561	102	9849											
B4GALT5	9334	ucsc.edu;bcgsc.ca	37	chr20	48252968	48252968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccatccagcccttgccGttcttttgacttcctcagca	8	15	2	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:48252968G>A	ENST00000371711.4	-	9	1235	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	350					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)			AGCCCTTGCCGTTCTTTTGAC	0.512																																					p.R350W		.											.	B4GALT5-91	0			c.C1048T						.						200	173	182					20																	48252968		2203	4300	6503	SO:0001583	missense	9334	exon9			CTTGCCGTTCTTT	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.1048C>T	20.37:g.48252968G>A	ENSP00000360776:p.Arg350Trp	Somatic	234	2		WXS	Illumina GAIIx	Phase_I	473	193	NM_004776	0	0	3	4	1	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779659	0.70107	.	.	ENSG00000158470	ENST00000371711	T	0.37235	1.21	5.52	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75161	-0.3415	10	0.72032	D	0.01	-22.256	13.3884	0.60809	0.0:0.0:0.5658:0.4342	.	350	O43286	B4GT5_HUMAN	W	350	ENSP00000360776:R350W	ENSP00000360776:R350W	R	-	1	2	B4GALT5	47686375	0.997000	0.39634	0.996000	0.52242	0.997000	0.91878	2.005000	0.40864	1.312000	0.45043	0.563000	0.77884	CGG	.		0.512	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		A	48252968	G	A	48252968	3	1	46	1	0	0	0	0	1	0	0	0	1275	1144	40	1	122	1	B4GALT5	20	48252968	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10	647009	48252968	14772552	103	9850											
CTCFL	140690	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	56090878	56090878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatcggacatggcgctTcaatttacttgcctaataaa	10	8	1	0			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:56090878T>C	ENST00000608263.1	-	5	1733	c.1072A>G	c.(1072-1074)Aag>Gag	p.K358E	CTCFL_ENST00000433949.3_Missense_Mutation_p.K153E|CTCFL_ENST00000608440.1_Missense_Mutation_p.K358E|CTCFL_ENST00000429804.3_Missense_Mutation_p.K358E|CTCFL_ENST00000422869.2_Missense_Mutation_p.K358E|CTCFL_ENST00000608425.1_Missense_Mutation_p.K358E|CTCFL_ENST00000371196.2_Missense_Mutation_p.K358E|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.K96E|CTCFL_ENST00000243914.3_Missense_Mutation_p.K358E|CTCFL_ENST00000608903.1_Missense_Mutation_p.K96E|CTCFL_ENST00000423479.3_Missense_Mutation_p.K358E|CTCFL_ENST00000539382.1_Missense_Mutation_p.K153E|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.K358E	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	358					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)			ACATGGCGCTTCAATTTACTT	0.423																																					p.K358E		.											.	CTCFL-292	0			c.A1072G						.						120	120	120					20																	56090878		2203	4300	6503	SO:0001583	missense	140690	exon5			GGCGCTTCAATTT		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.1072A>G	20.37:g.56090878T>C	ENSP00000476783:p.Lys358Glu	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	79	9	NM_001269044	0	0	0	0	0	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583432	0.65992	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144113	0.31797	N	0.007058	T	0.35189	0.0923	L	0.52823	1.66	0.44018	D	0.996738	P;D;D;D;D	0.67145	0.949;0.996;0.992;0.992;0.993	P;D;D;P;P	0.68765	0.881;0.916;0.96;0.862;0.895	T	0.02505	-1.1149	10	0.39692	T	0.17	-31.8917	14.4174	0.67160	0.0:0.0:0.0:1.0	.	358;358;358;358;358	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	E	358;358;358;358;358;96;358;358;153;358	ENSP00000415579:K358E;ENSP00000243914:K358E;ENSP00000360239:K358E;ENSP00000415329:K358E;ENSP00000392034:K358E;ENSP00000437999:K96E;ENSP00000413713:K358E;ENSP00000403369:K358E;ENSP00000439998:K153E;ENSP00000399061:K358E	ENSP00000243914:K358E	K	-	1	0	CTCFL	55524284	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	7.670000	0.83925	2.108000	0.64289	0.528000	0.53228	AAG	.		0.423	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		C	56090878	T	C	56090878	3	2	46	1	0	0	0	0	1	0	0	0	4010	1792	62	4	943	4	CTCFL	20	56090878	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	7837910	56090878	6934642	104	9851											
KRTAP10-4	386672	ucsc.edu	37	chr21	45993851	45993851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgcccagtgacctgCgagcccagcccctgccaatc	9	20	0	1	rs201895065		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C		.											.	KRTAP10-4-90	0			c.C216T						.						20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T		Somatic	38	6		WXS	Illumina GAIIx	Phase_I	39	25	NM_198687	0	0	0	0	0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|1.000;|0.000		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		T	45993851	C	T	45993851	2	4	46	1	0	0	0	0	0	0	0	1	8538	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10		45993851	2136044	105	9852											
GSTT2	2953	bcgsc.ca	37	chr22	24325062	24325062	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctctgcccccatcagGtgttggggccactcattggg	11	15	3	0	rs2301423	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr22:24325062G>A	ENST00000215780.5	+	4	402	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DDT_ENST00000404092.1_5'Flank|GSTT2_ENST00000402588.3_Splice_Site_p.V118M	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	118	GST C-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						CCCCCATCAGGTGTTGGGGCC	0.607																																					p.V118M		.											.	GSTT2-68	0			c.G352A						.	G	MET/VAL	149,4255		2,145,2055	51	48	49		352	0.6	0	22	dbSNP_131	49	1352,7244		45,1262,2991	no	missense-near-splice	GSTT2	NM_000854.3	21	47,1407,5046	AA,AG,GG		15.7282,3.3833,11.5462	possibly-damaging	118/245	24325062	1501,11499	2202	4298	6500	SO:0001630	splice_region_variant	2953	exon4			CATCAGGTGTTGG	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"Glutathione S-transferases / Soluble"	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.352-1G>A	22.37:g.24325062G>A		Somatic	547	3		WXS	Illumina GAIIx	Phase_I	260	7	NM_000854	0	0	0	0	0	O60665|P30712|Q6IPV7|Q9HD76	Missense_Mutation	SNP	ENST00000215780.5	37	CCDS13821.1	350	0.16025641025641027	4	0.008130081300813009	52	0.143646408839779	167	0.291958041958042	127	0.16754617414248021	g	7.443	0.641125	0.14386	0.033833	0.157282	ENSG00000099984	ENST00000215780;ENST00000402588	T;T	0.18810	2.19;2.19	1.71	0.639	0.17747	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.686514	0.13739	N	0.366086	T	0.00012	0.0000	L	0.52905	1.665	0.49130	P	2.4500000000005073E-4	D;P	0.76494	0.999;0.907	P;B	0.57846	0.828;0.408	T	0.28870	-1.0030	8	.	.	.	-14.4526	4.1421	0.10198	0.2239:0.0:0.7761:0.0	.	118;118	B5MCL2;P0CG29	.;GST2_HUMAN	M	118	ENSP00000215780:V118M;ENSP00000385765:V118M	.	V	+	1	0	GSTT2	22655062	0.240000	0.23847	0.016000	0.15963	0.391000	0.30476	-0.244000	0.08903	0.321000	0.23259	0.385000	0.25706	GTG	G|0.850;A|0.151		0.607	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854	Missense_Mutation	A	24325062	G	A	24325062	5	1	46	1	0	0	0	0	0	0	1	0	6873	1275	44	3	1121	3	GSTT2	22	24325062	Splice_Site	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		24325062	26979504	106	9853											
ARSD	414	bcgsc.ca	37	chrX	2836037	2836037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgactgctctcgcggagacaGagaagaaaccgcaggtctgg	14	10	2	4	rs211653	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:2836037G>C	ENST00000381154.1	-	5	746	c.671C>G	c.(670-672)tCt>tGt	p.S224C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	224			S -> C (in dbSNP:rs211653). {ECO:0000269|PubMed:11177574}.		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)				CGCGGAGACAGAGAAGAAACC	0.627													g|||	1534	0.406358	0.3396	0.4006	3775	,	,		13839	0.255		0.3489	False		,,,				2504	0.2035				p.S224C		.											.	ARSD-130	0			c.C671G						.	G	CYS/SER	1666,2169		339,779,209,514,362	19	23	22		671	2.5	0	X	dbSNP_79	22	3030,3696		560,1221,689,647,1181	no	missense	ARSD	NM_001669.3	112	899,2000,898,1161,1543	CC,CG,C,GG,G		45.0491,43.442,44.4655	benign	224/594	2836037	4696,5865	2203	4298	6501	SO:0001583	missense	414	exon5			GAGACAGAGAAGA	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.671C>G	X.37:g.2836037G>C	ENSP00000370546:p.Ser224Cys	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_001669	0	0	0	0	0	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	680	0.4098854731766124	138	0.3	139	0.4371069182389937	158	0.286231884057971	282	0.4051724137931034	g	9.900	1.206692	0.22205	0.43442	0.450491	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.94000	-3.33	3.47	2.55	0.30701	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.450854	0.20036	U	0.100602	T	0.00012	0.0000	M	0.82923	2.615	0.80722	P	0.0	B;B	0.25206	0.12;0.045	B;B	0.34301	0.179;0.076	T	0.01791	-1.1273	9	0.33940	T	0.23	.	11.8883	0.52615	0.0:0.1742:0.8258:0.0	rs211653;rs17325736;rs56637515;rs211653	224;224	E9PAW5;P51689	.;ARSD_HUMAN	C	224	ENSP00000370546:S224C	ENSP00000217890:S224C	S	-	2	0	ARSD	2846037	0.137000	0.22531	0.012000	0.15200	0.071000	0.16799	3.128000	0.50492	0.342000	0.23796	0.420000	0.28162	TCT	0|0.004;C|0.405		0.627	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2836037	G	C	2836037	3	2	46	1	0	0	0	0	1	0	0	0	990	942	33	3	1287	3	ARSD	23	2836037	Missense_Mutation	SNP	G	TCGA-OR-A5L6-01A-11D-A29I-10		2836037	152434523	107	9854											
ASB11	140456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	15332559	15332559	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggtccggaccttctgataCgttctgaaacttcacaattc	7	11	3	2			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:15332559C>G	ENST00000480796.1	-	1	232				ASB11_ENST00000537676.1_Missense_Mutation_p.R17P|ASB11_ENST00000344384.4_Missense_Mutation_p.R17P|ASB11_ENST00000380470.3_Intron			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CCTTCTGATACGTTCTGAAAC	0.368																																					p.R17P		.											.	ASB11-289	0			c.G50C						.						141	125	131					X																	15332559		2203	4300	6503	SO:0001627	intron_variant	140456	exon1			CTGATACGTTCTG	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.181+987G>C	X.37:g.15332559C>G		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	35	15	NM_001012428	0	0	0	0	0	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085999	0.08583	.	.	ENSG00000165192	ENST00000537676;ENST00000344384	T;T	0.68624	-0.34;-0.34	5.84	2.16	0.27623	.	.	.	.	.	T	0.43100	0.1232	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	9	0.34782	T	0.22	.	7.7094	0.28669	0.0:0.6617:0.0:0.3383	.	17	E9PEN1	.	P	17	ENSP00000445465:R17P;ENSP00000343408:R17P	ENSP00000343408:R17P	R	-	2	0	ASB11	15242480	0.718000	0.27976	0.091000	0.20842	0.133000	0.20885	0.270000	0.18607	0.249000	0.21456	-0.297000	0.09499	CGT	.		0.368	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			G	15332559	C	G	15332559	1	3	46	0	1	0	0	0	0	0	0	0	1016	536	19	2		2	ASB11	23	15332559	Intron	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	12496522	15332559	139938001	108	9855											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	32407770	32407770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaataatcgaaacttcaTggagacatcttgtaattttt	7	6	2	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:32407770T>G	ENST00000357033.4	-	32	4572	c.4366A>C	c.(4366-4368)Atg>Ctg	p.M1456L	DMD_ENST00000378677.2_Missense_Mutation_p.M1452L	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	1456	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)				CGAAACTTCATGGAGACATCT	0.348																																					p.M1456L		.											.	DMD-265	0			c.A4366C						.						92	82	86					X																	32407770		2202	4300	6502	SO:0001583	missense	1756	exon32			ACTTCATGGAGAC	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.4366A>C	X.37:g.32407770T>G	ENSP00000354923:p.Met1456Leu	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	38	15	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569609	0.28003	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.18016	2.24;2.24	5.67	-4.8	0.03190	.	0.162267	0.27151	U	0.020690	T	0.08044	0.0201	L	0.36672	1.1	0.45718	D	0.998621	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.20638	-1.0269	10	0.35671	T	0.21	.	0.6601	0.00841	0.1896:0.2215:0.1904:0.3985	.	1448;1456;1452;115;112	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1448;115;112;1452;1456;1456;1333	ENSP00000367948:M1452L;ENSP00000354923:M1456L	ENSP00000354923:M1456L	M	-	1	0	DMD	32317691	0.083000	0.21467	0.966000	0.40874	0.924000	0.55760	0.305000	0.19254	-0.743000	0.04784	-0.321000	0.08615	ATG	.		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	32407770	T	G	32407770	3	3	46	1	0	0	0	0	1	0	0	0	4594	1464	51	5	7031	5	DMD	23	32407770	Missense_Mutation	SNP	T	TCGA-OR-A5L6-01A-11D-A29I-10	17075211	32407770	122862790	109	9856											
TCEAL3	85012	broad.mit.edu	37	chrX	102864220	102864220	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtccgaaggtgagggCaagccacaaggcgagggcaa	18	9	0	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:102864220C>A	ENST00000372628.1	+	3	586	c.228C>A	c.(226-228)ggC>ggA	p.G76G	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Silent_p.G76G|TCEAL3_ENST00000372627.5_Silent_p.G76G			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGGTGAGGGCAAGCCACAAG	0.617																																					p.G76G		.											.	TCEAL3-90	0			c.C228A						.						119	101	107					X																	102864220		2203	4300	6503	SO:0001819	synonymous_variant	85012	exon3			TGAGGGCAAGCCA	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.228C>A	X.37:g.102864220C>A		Somatic	75	12		WXS	Illumina GAIIx	Phase_I	131	22	NM_001006933	0	0	27	28	1	D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																			.		0.617	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		A	102864220	C	A	102864220	2	1	46	1	0	0	0	0	0	0	0	1	15719	697	25	3		3	TCEAL3	23	102864220	Silent	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	70456450	102864220	52406340	110	9857											
MCF2	4168	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	138713564	138713564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatacatttctgaagAtgatccattcactgtggcag	8	9	2	3			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:138713564A>G	ENST00000370576.4	-	3	487	c.278T>C	c.(277-279)aTc>aCc	p.I93T	MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.I238T|MCF2_ENST00000414978.1_Missense_Mutation_p.I153T|MCF2_ENST00000520602.1_Missense_Mutation_p.I153T|MCF2_ENST00000338585.6_Missense_Mutation_p.I93T|MCF2_ENST00000519895.1_Missense_Mutation_p.I153T|MCF2_ENST00000370573.4_Missense_Mutation_p.I93T	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	93					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTGAAGATGATCCATTC	0.388																																					p.I153T		.											.	MCF2-227	0			c.T458C						.						203	174	184					X																	138713564		2203	4300	6503	SO:0001583	missense	4168	exon6			CTGAAGATGATCC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.278T>C	X.37:g.138713564A>G	ENSP00000359608:p.Ile93Thr	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	144	8	NM_001171876	0	0	0	0	0	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542885	0.27563	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T	0.59638	1.41;0.25;1.4;1.41;1.46;0.25;0.25	5.91	4.75	0.60458	.	0.212795	0.49305	N	0.000143	T	0.43700	0.1259	L	0.38838	1.175	0.32262	N	0.570051	B;B;B;B;B;B	0.14012	0.0;0.009;0.0;0.0;0.006;0.0	B;B;B;B;B;B	0.18871	0.002;0.011;0.005;0.004;0.023;0.002	T	0.46289	-0.9202	10	0.12766	T	0.61	.	9.9827	0.41824	0.9195:0.0:0.0805:0.0	.	153;238;93;238;93;93	E9PH77;B7Z3Z2;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;MCF2_HUMAN	T	153;93;238;153;153;93;93	ENSP00000427745:I153T;ENSP00000359608:I93T;ENSP00000359610:I238T;ENSP00000397055:I153T;ENSP00000430276:I153T;ENSP00000359605:I93T;ENSP00000342204:I93T	ENSP00000342204:I93T	I	-	2	0	MCF2	138541230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.821000	0.75272	0.846000	0.35142	0.481000	0.45027	ATC	.		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		G	138713564	A	G	138713564	3	3	46	1	0	0	0	0	1	0	0	0	9416	333	12	4	2671	4	MCF2	23	138713564	Missense_Mutation	SNP	A	TCGA-OR-A5L6-01A-11D-A29I-10	35849344	138713564	16556996	111	9858											
IL9R	3581	broad.mit.edu	37	chrX	155239804	155239804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagagggcagcaggagcagCagcagcagcagcagcagcaa	15	11	1	1			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S411R|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				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)			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)					gcaggagcagcagcagcagca	0.627																																					p.S432R		.											.	IL9R-40	0			c.C1296G						.						17	27	24					X																	155239804		2201	4295	6496	SO:0001583	missense	3581	exon9			GAGCAGCAGCAGC	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.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	127	4	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC	C|1.000;|0.000		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		G	155239804	C	G	155239804	3	3	46	1	0	0	0	0	1	0	0	0	7735	709	25	3	1330	3	IL9R	23	155239804	Missense_Mutation	SNP	C	TCGA-OR-A5L6-01A-11D-A29I-10	16526240	155239804	30756	112	9859											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	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	49	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						AGCGGCCCCCgcagcagcagcag	0.7																																					p.37_38del		.											.	ST6GALNAC5-92	0			c.111_113del						.			633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849	exon2			GCCCCCGCAGCAG		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.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	194	8	NM_030965	0	0	0	0	0	B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	CCDS673.1																																																																																			GCA|0.500;-|0.500		0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		-	77334279	GCA	-	77334277	7	5	47	1	0	1	0	1	0	0	0	0	15274	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-OR-A5L9-01A-11D-A29I-10		77334277	171916344	1	9860											
BCL11A	53335	broad.mit.edu	37	chr2	60688968	60688968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcggattgcagaggagggAgggggggcgtcgccaggaag	24	6	0	1			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr2:60688968A>G	ENST00000335712.6	-	4	1306	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.L360P|BCL11A_ENST00000358510.4_Missense_Mutation_p.L326P|BCL11A_ENST00000538214.1_Missense_Mutation_p.L326P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	360	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAGAGGAGGGAGGGGGGGCGT	0.632			T	IGH@	B-CLL																																p.L360P		.		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	BCL11A-1149	0			c.T1079C						.						38	47	44					2																	60688968		2198	4297	6495	SO:0001583	missense	53335	exon4			GGAGGGAGGGGGG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1079T>C	2.37:g.60688968A>G	ENSP00000338774:p.Leu360Pro	Somatic	59	5		WXS	Illumina GAIIx	Phase_I	87	9	NM_018014	0	0	0	0	0	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269549	0.23221	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.10573	2.86;3.12;3.1;3.05	5.74	5.74	0.90152	.	0.069904	0.64402	N	0.000020	T	0.30103	0.0754	L	0.59436	1.845	0.80722	D	1	D;D;B;D	0.89917	0.999;0.997;0.024;1.0	D;P;B;D	0.78314	0.991;0.855;0.039;0.991	T	0.00677	-1.1614	10	0.48119	T	0.1	-2.4653	16.0382	0.80645	1.0:0.0:0.0:0.0	.	326;326;360;360	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	P	360;396;326;360;326	ENSP00000349300:L360P;ENSP00000438303:L326P;ENSP00000338774:L360P;ENSP00000351307:L326P	ENSP00000338774:L360P	L	-	2	0	BCL11A	60542472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.272000	0.58908	2.194000	0.70268	0.533000	0.62120	CTC	.		0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		G	60688968	A	G	60688968	3	3	47	1	0	0	0	0	1	0	0	0	1364	304	11	4	1538	4	BCL11A	2	60688968	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10		60688968	182510405	2	9861											
COPS7B	64708	broad.mit.edu;bcgsc.ca	37	chr2	232659056	232659056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgagcttggcatcaagaAtgaaggtacggtactgagcc	13	8	1	4			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr2:232659056A>G	ENST00000350033.3	+	4	463	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	COPS7B_ENST00000409295.1_Missense_Mutation_p.M74V|COPS7B_ENST00000410024.1_Missense_Mutation_p.M108V|COPS7B_ENST00000410017.1_Missense_Mutation_p.M108V|COPS7B_ENST00000373608.3_Missense_Mutation_p.M108V|COPS7B_ENST00000409091.1_Start_Codon_SNP_p.M1V	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	108	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)		GGCATCAAGAATGAAGGTACG	0.512																																					p.M108V		.											.	COPS7B-228	0			c.A322G						.						160	124	136					2																	232659056		2203	4300	6503	SO:0001583	missense	64708	exon4			TCAAGAATGAAGG	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.322A>G	2.37:g.232659056A>G	ENSP00000272995:p.Met108Val	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_022730	0	0	0	0	0	Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	A	8.704	0.910493	0.17833	.	.	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000410017;ENST00000373608;ENST00000537799	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.17	6.17	0.99709	Proteasome component (PCI) domain (2);	0.042949	0.85682	D	0.000000	T	0.22666	0.0547	N	0.17082	0.46	0.50632	D	0.999888	B;B;B	0.29253	0.105;0.01;0.239	B;B;B	0.31191	0.065;0.032;0.125	T	0.07046	-1.0793	10	0.24483	T	0.36	-0.2698	16.8222	0.85835	1.0:0.0:0.0:0.0	.	108;108;108	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	V	108;74;1;108;108;108;1	ENSP00000386567:M108V;ENSP00000386438:M74V;ENSP00000272995:M108V;ENSP00000386880:M108V;ENSP00000362710:M108V	ENSP00000272995:M108V	M	+	1	0	COPS7B	232367300	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.711000	0.74675	2.371000	0.80710	0.533000	0.62120	ATG	.		0.512	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		G	232659056	A	G	232659056	3	3	47	1	0	0	0	0	1	0	0	0	3746	101	4	4	332	4	COPS7B	2	232659056	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	171970088	232659056	10540317	3	9862											
HHATL	57467	bcgsc.ca	37	chr3	42735150	42735150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactctgccagtttttgcaTccagagctcaaagttgaggc	9	12	2	2	rs11079	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr3:42735150T>C	ENST00000441594.1	-	10	1468	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	HHATL_ENST00000310417.5_Missense_Mutation_p.M403V	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	403			M -> V (in dbSNP:rs11079).		negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGTTTTTGCATCCAGAGCTCA	0.572													C|||	3251	0.649161	0.6785	0.6787	5008	,	,		17935	0.7113		0.5924	False		,,,				2504	0.5828				p.M403V		.											.	HHATL-93	0			c.A1207G						.		VAL/MET	2878,1528	483.9+/-359.9	934,1010,259	50	46	47		1207	4.3	1	3	dbSNP_52	47	5072,3528	513.4+/-378.2	1462,2148,690	yes	missense	HHATL	NM_020707.3	21	2396,3158,949	CC,CT,TT		41.0233,34.68,38.8744	benign	403/505	42735150	7950,5056	2203	4300	6503	SO:0001583	missense	57467	exon10			TTTGCATCCAGAG	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1207A>G	3.37:g.42735150T>C	ENSP00000405423:p.Met403Val	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	117	8	NM_020707	0	0	3	3	0	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	1409	0.6451465201465202	338	0.6869918699186992	236	0.6519337016574586	393	0.6870629370629371	442	0.58311345646438	c	4.841	0.156349	0.09236	0.6532	0.589767	ENSG00000010282	ENST00000310417;ENST00000441594	T;T	0.72394	-0.65;-0.65	4.35	4.35	0.52113	.	0.060080	0.64402	N	0.000003	T	0.00012	0.0000	N	0.00044	-2.455	0.39949	P	0.025487000000000037	B	0.02656	0.0	B	0.01281	0.0	T	0.45131	-0.9282	9	0.07030	T	0.85	-3.6735	12.4847	0.55866	0.0:0.9175:0.0:0.0825	rs11079;rs1046552;rs3172382;rs17237886;rs60079680;rs11079	403	Q9HCP6	HHATL_HUMAN	V	403	ENSP00000310621:M403V;ENSP00000405423:M403V	ENSP00000310621:M403V	M	-	1	0	HHATL	42710154	1.000000	0.71417	0.999000	0.59377	0.630000	0.37929	3.125000	0.50469	0.827000	0.34685	-0.404000	0.06349	ATG	T|0.381;C|0.619		0.572	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		C	42735150	T	C	42735150	3	2	47	1	0	0	0	0	1	0	0	0	7117	1435	50	4	319	4	HHATL	3	42735150	Missense_Mutation	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10		42735150	155287280	4	9863											
NBEAL2	23218	broad.mit.edu	37	chr3	47036675	47036675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgtgacagctgccctGccagccgtgccacctgtgtg	13	15	1	1			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr3:47036675G>T	ENST00000450053.3	+	13	1629	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A484S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	484					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCTGCCCTGCCAGCCGTGC	0.677																																					p.A484S		.											.	NBEAL2-69	0			c.G1450T						.						7	8	8					3																	47036675		1952	4070	6022	SO:0001583	missense	23218	exon13			TGCCCTGCCAGCC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1450G>T	3.37:g.47036675G>T	ENSP00000415034:p.Ala484Ser	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	97	9	NM_015175	0	0	0	0	0	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.150	0.026253	0.08054	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.49720	0.77;0.77	4.59	1.62	0.23740	Armadillo-like helical (1);Armadillo-type fold (1);	0.449291	0.22539	N	0.058757	T	0.25457	0.0619	L	0.28274	0.84	0.80722	D	1	B;B	0.25667	0.131;0.006	B;B	0.21151	0.033;0.005	T	0.04320	-1.0960	10	0.09843	T	0.71	.	5.4741	0.16686	0.1981:0.2893:0.5126:0.0	.	450;484	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	S	484;484;450	ENSP00000292309:A484S;ENSP00000415034:A484S	ENSP00000292309:A484S	A	+	1	0	NBEAL2	47011679	0.893000	0.30496	0.997000	0.53966	0.951000	0.60555	1.393000	0.34497	0.674000	0.31244	-0.224000	0.12420	GCC	.		0.677	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47036675	G	T	47036675	3	4	47	1	0	0	0	0	1	0	0	0	10227	1319	46	3	1500	3	NBEAL2	3	47036675	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	4301525	47036675	150985755	5	9864											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	47	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	19514081	66550756	131471674	6	9865	101	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	47	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	6	66550762	131471668	7	9866	101	2									
PPP2R3A	5523	bcgsc.ca	37	chr3	135722264	135722264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttatcagtctgtagaAgtcctgttggtgataaagcc	9	8	2	2	rs17197552	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr3:135722264A>G	ENST00000264977.3	+	2	2541	c.1924A>G	c.(1924-1926)Agt>Ggt	p.S642G	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	642			S -> G (in dbSNP:rs17197552).		eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTCTGTAGAAGTCCTGTTGG	0.423													A|||	865	0.172724	0.1505	0.1412	5008	,	,		17582	0.0288		0.2783	False		,,,				2504	0.2648				p.S642G		.											.	PPP2R3A-662	0			c.A1924G						.	A	,GLY/SER	770,3634	291.0+/-281.2	64,642,1496	82	77	79		,1924	3.5	1	3	dbSNP_123	79	2708,5892	418.8+/-352.9	415,1878,2007	yes	intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4	,56	479,2520,3503	GG,GA,AA		31.4884,17.4841,26.7456	,benign	,642/1151	135722264	3478,9526	2202	4300	6502	SO:0001583	missense	5523	exon2			TGTAGAAGTCCTG	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1924A>G	3.37:g.135722264A>G	ENSP00000264977:p.Ser642Gly	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	125	7	NM_002718	0	0	0	0	0	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	340	0.15567765567765568	66	0.13414634146341464	57	0.1574585635359116	13	0.022727272727272728	204	0.2691292875989446	A	9.126	1.010279	0.19277	0.174841	0.314884	ENSG00000073711	ENST00000264977	T	0.06218	3.33	5.83	3.47	0.39725	.	0.643751	0.17330	N	0.178150	T	0.00012	0.0000	N	0.24115	0.695	0.09310	P	0.999999999742355	B	0.02656	0.0	B	0.04013	0.001	T	0.47636	-0.9102	9	0.44086	T	0.13	.	8.2194	0.31532	0.8457:0.0:0.1543:0.0	rs17197552;rs52827295;rs17197552	642	Q06190	P2R3A_HUMAN	G	642	ENSP00000264977:S642G	ENSP00000264977:S642G	S	+	1	0	PPP2R3A	137204954	0.878000	0.30173	0.996000	0.52242	0.962000	0.63368	1.520000	0.35899	0.481000	0.27557	0.460000	0.39030	AGT	A|0.779;G|0.221		0.423	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		G	135722264	A	G	135722264	3	3	47	1	0	0	0	0	1	0	0	0	12430	72	3	4	1926	4	PPP2R3A	3	135722264	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	69171502	135722264	62300166	8	9867											
SPON2	10417	hgsc.bcm.edu	37	chr4	1165131	1165131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcgccgaaaacaccgCgtgcacgctctgcagcgcct	14	16	1	0	rs193114328	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:1165131C>T	ENST00000290902.5	-	3	696	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	SPON2_ENST00000431380.1_Missense_Mutation_p.A122T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	122	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.		E -> A (in dbSNP:rs11247975). {ECO:0000269|PubMed:10512675, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15815621, ECO:0000269|Ref.5}.		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)		GAAAACACCGCGTGCACGCTC	0.741													C|||	23	0.00459265	0.0015	0.0029	5008	,	,		7766	0		0.0149	False		,,,				2504	0.0041				p.A122T		.											.	SPON2-90	0			c.G364A						.	C	THR/ALA,THR/ALA,THR/ALA	14,4172		0,14,2079	9	10	10		364,364,364	2.4	0.2	4		10	121,8139		1,119,4010	no	missense,missense,missense	SPON2	NM_001128325.2,NM_001199021.1,NM_012445.3	58,58,58	1,133,6089	TT,TC,CC		1.4649,0.3344,1.0847	,,	122/332,122/332,122/332	1165131	135,12311	2093	4130	6223	SO:0001583	missense	10417	exon3			ACACCGCGTGCAC	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.364G>A	4.37:g.1165131C>T	ENSP00000290902:p.Ala122Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	36	31	NM_012445	0	0	0	0	0	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	22	0.010073260073260074	4	0.008130081300813009	6	0.016574585635359115	0	0.0	12	0.0158311345646438	C	15.05	2.718085	0.48622	0.003344	0.014649	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.41065	1.01;1.01	4.59	2.44	0.29823	.	0.467518	0.24691	N	0.036396	T	0.07413	0.0187	N	0.02916	-0.46	0.32399	N	0.552237	B	0.32409	0.37	B	0.21360	0.034	T	0.17349	-1.0372	10	0.14252	T	0.57	.	11.5526	0.50729	0.0:0.8175:0.0:0.1825	.	122	D3DVN9	.	T	122	ENSP00000290902:A122T;ENSP00000394832:A122T	ENSP00000290902:A122T	A	-	1	0	SPON2	1155131	0.920000	0.31207	0.153000	0.22517	0.296000	0.27459	3.433000	0.52834	0.915000	0.36847	0.511000	0.50034	GCG	C|0.990;T|0.010		0.741	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1165131	C	T	1165131	3	4	47	1	0	0	0	0	1	0	0	0	15130	768	27	1	647	1	SPON2	4	1165131	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		1165131	189989145	9	9868											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388664	1388664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs199774688	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:1388664T>C	ENST00000324803.4	+	1	3325	c.365T>C	c.(364-366)aTg>aCg	p.M122T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	122					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.682													N|||	3	0.000599042	8e-04	0	5008	,	,		14509	0		0.001	False		,,,				2504	0.001				p.M122T		.											.	CRIPAK-90	0			c.T365C						.						141	131	134					4																	1388664		2203	4300	6503	SO:0001583	missense	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.365T>C	4.37:g.1388664T>C	ENSP00000323978:p.Met122Thr	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	135	8	NM_175918	0	0	2	2	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.697	-0.062261	0.07317	.	.	ENSG00000179979	ENST00000324803	T	0.16897	2.31	0.948	0.948	0.19561	Post-SET domain (1);	.	.	.	.	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14023	0.01	T	0.39375	-0.9617	9	0.21540	T	0.41	.	6.1496	0.20304	0.0:0.0:0.0:1.0	.	122	Q8N1N5	CRPAK_HUMAN	T	122	ENSP00000323978:M122T	ENSP00000323978:M122T	M	+	2	0	CRIPAK	1378664	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.813000	0.04491	0.697000	0.31718	0.102000	0.15555	ATG	T|0.995;C|0.005		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388664	T	C	1388664	3	2	47	1	0	0	0	0	1	0	0	0	3884	1464	51	4	367	4	CRIPAK	4	1388664	Missense_Mutation	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	223533	1388664	189765612	10	9869											
HTT	3064	bcgsc.ca	37	chr4	3215835	3215835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacgcctgctccctcatcTactgtgtgcacttcatcctg	6	18	3	0	rs362331	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:3215835T>C	ENST00000355072.5	+	50	7070	c.6925T>C	c.(6925-6927)Tac>Cac	p.Y2309H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2309			Y -> H (in dbSNP:rs362331).		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)		CTCCCTCATCTACTGTGTGCA	0.582													C|||	2210	0.441294	0.5862	0.4294	5008	,	,		19331	0.3859		0.4334	False		,,,				2504	0.319				p.Y2309H		.											.	HTT-281	0			c.T6925C						.	C	HIS/TYR	2355,1813		681,993,410	34	38	36		6925	5.7	1	4	dbSNP_79	36	3533,4873		764,2005,1434	yes	missense	HTT	NM_002111.6	83	1445,2998,1844	CC,CT,TT		42.0295,43.4981,46.8268	benign	2309/3143	3215835	5888,6686	2084	4203	6287	SO:0001583	missense	3064	exon50			CTCATCTACTGTG	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.6925T>C	4.37:g.3215835T>C	ENSP00000347184:p.Tyr2309His	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	82	5	NM_002111	0	0	0	0	0	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	995	0.4555860805860806	281	0.5711382113821138	161	0.4447513812154696	220	0.38461538461538464	333	0.4393139841688654	C	9.562	1.118641	0.20877	0.565019	0.420295	ENSG00000197386	ENST00000355072	T	0.04603	3.59	5.7	5.7	0.88788	.	0.117131	0.64402	N	0.000015	T	0.00012	0.0000	N	0.00583	-1.355	0.47065	P	6.969999999999477E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	0.13853	T	0.58	.	8.2136	0.31499	0.2523:0.6699:0.0:0.0778	rs362331;rs878244;rs2229983;rs3821970;rs17793687;rs52791365;rs58994081;rs362331	2309	P42858	HD_HUMAN	H	2309	ENSP00000347184:Y2309H	ENSP00000347184:Y2309H	Y	+	1	0	HTT	3185633	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.175000	0.50855	1.427000	0.47276	-0.119000	0.15052	TAC	C|0.453;N|0.000		0.582	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		C	3215835	T	C	3215835	3	2	47	1	0	0	0	0	1	0	0	0	7484	1522	53	4	7123	4	HTT	4	3215835	Missense_Mutation	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	1827171	3215835	187938441	11	9870											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	47	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	45276599	48492434	142661842	12	9871											
DSPP	1834	bcgsc.ca	37	chr4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgatagcagtgaCagcagtgacagcagcgacag	14	9	0	3			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	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)		atagcagtgacagcagtgaca	0.542																																					p.D1071E		.											.	DSPP-90	0			c.C3213A						.						56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu	Somatic	812	8		WXS	Illumina GAIIx	Phase_I	912	41	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC	.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		A	88537027	C	A	88537027	3	1	47	1	0	0	0	0	1	0	0	0	4796	477	17	3	3227	3	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	40044593	88537027	102617249	13	9872											
DSPP	1834	bcgsc.ca	37	chr4	88537090	88537090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagcagtgacagcagcaaTagcagtgacagcagcgatag	13	8	0	2	rs376726974	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:88537090T>C	ENST00000282478.7	+	4	3309	c.3276T>C	c.(3274-3276)aaT>aaC	p.N1092N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.N1092N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1092	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)		acagcagcaatagcagtgaca	0.542													C|||	281	0.0561102	0.1029	0.0288	5008	,	,		11943	0.0407		0.0467	False		,,,				2504	0.0378				p.N1092N		.											.	DSPP-90	0			c.T3276C						.						20	30	27					4																	88537090		782	1592	2374	SO:0001819	synonymous_variant	1834	exon5			CAGCAATAGCAGT	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.3276T>C	4.37:g.88537090T>C		Somatic	648	38		WXS	Illumina GAIIx	Phase_I	377	51	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537090	T	C	88537090	2	2	47	1	0	0	0	0	0	0	0	1	4796	1403	49	4		4	DSPP	4	88537090	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	63	88537090	102617186	14	9873											
ADH6	130	broad.mit.edu	37	chr4	100137315	100137316	+	Splice_Site	DEL	TA	TA	-													ttttttttttttttttttttTacctttatgcgaacttcctt							TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr4:100137315_100137316delTA	ENST00000237653.7	-	2	505		c.e2+1		RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Splice_Site|ADH6_ENST00000407820.2_Splice_Site|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Splice_Site	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						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)	tttttttttttACCTTTATGCG	0.371																																					.		.											.	ADH6-228	0			.						.																																			SO:0001630	splice_region_variant	130	.			TTTTTTTACCTTT	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.120+1TA>-	4.37:g.100137315_100137316delTA		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	9	4	.	0	0	0	0	0	B3KS45|Q58F53	Splice_Site	DEL	ENST00000237653.7	37	CCDS3647.1																																																																																			T|1.000		0.371	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	Intron	-	100137316	TA	-	100137315	8	5	47	1	0	1	0	1	0	0	1	0	312	1769	61	0		0	ADH6	4	100137315	Splice_Site	DEL	TA	TCGA-OR-A5L9-01A-11D-A29I-10	11600225	100137315	91016961	15	9874											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000539938.1_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	47	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		6633779	174281481	16	9875											
GABRG2	2566	hgsc.bcm.edu	37	chr5	161529571	161529571	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggacagggtctcgttctAttgcccaggctggaatgtgc	13	9	2	0	rs211035	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr5:161529571A>G	ENST00000361925.4	+	5	851				GABRG2_ENST00000356592.3_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.I215V|GABRG2_ENST00000393933.4_Intron			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	gtctcgttctattgcccaggc	0.473													G|||	4113	0.821286	0.8608	0.8646	5008	,	,		16083	0.7202		0.8042	False		,,,				2504	0.8589				p.I215V		.											.	GABRG2-95	0			c.A643G						.																																			SO:0001627	intron_variant	2566	exon6			CGTTCTATTGCCC		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.631+1248A>G	5.37:g.161529571A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_198903	0	0	0	0	0	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	1762	0.8067765567765568	426	0.8658536585365854	303	0.8370165745856354	420	0.7342657342657343	613	0.8087071240105541	G	0.003	-2.502500	0.00157	.	.	ENSG00000113327	ENST00000414552	T	0.13307	2.6	0.225	0.225	0.15325	.	.	.	.	.	T	0.00012	0.0000	N	0.01640	-0.785	0.80722	P	0.0	B	0.13145	0.007	B	0.01281	0.0	T	0.28138	-1.0053	7	0.02654	T	1	.	.	.	.	rs211035;rs388537;rs58765528	215	F5HB82	.	V	215	ENSP00000410732:I215V	ENSP00000410732:I215V	I	+	1	0	GABRG2	161462149	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-0.690000	0.05142	-0.684000	0.03749	ATT	A|0.193;G|0.807		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161529571	A	G	161529571	1	3	47	0	1	0	0	0	0	0	0	0	6196	449	16	4		4	GABRG2	5	161529571	Intron	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	154895792	161529571	19385689	17	9876											
HLA-B	3106	bcgsc.ca	37	chr6	31324516	31324516	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttccgcaggctctctcggtCagtctgtgcctgggccttgt	13	13	3	0	rs1131215	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:31324516C>A	ENST00000412585.2	-	2	320	c.292G>T	c.(292-294)Gac>Tac	p.D98Y		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTCTCGGTCAGTCTGTGCC	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3525	0.703874	0.7163	0.7507	5008	,	,		6748	0.6419		0.5954	False		,,,				2504	0.8292				p.D98Y		.											.	HLA-B-90	0			c.G292T						.	A	TYR/ASP	2329,1909		891,547,681	50	52	52	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	292	-6.4	0	6	dbSNP_86	52	3737,4619		1270,1197,1711	no	missense	HLA-B	NM_005514.6	160	2161,1744,2392	AA,AC,CC		44.7224,45.0448,48.1658		98/363	31324516	6066,6528	2119	4178	6297	SO:0001583	missense	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	CTCGGTCAGTCTG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.292G>T	6.37:g.31324516C>A	ENSP00000399168:p.Asp98Tyr	Somatic	147	4		WXS	Illumina GAIIx	Phase_I	89	37	NM_005514	0	0	6	6	0	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	1363	0.6240842490842491	310	0.6300813008130082	257	0.7099447513812155	374	0.6538461538461539	422	0.5567282321899736	N	3.390	-0.124570	0.06795	0.549552	0.447224	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00009	9.52;9.52	3.2	-6.41	0.01938	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	6.155240	0.01158	U	0.006566	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;D	0.89917	0.354;0.057;1.0	B;B;D	0.97110	0.291;0.083;1.0	T	0.62120	-0.6921	9	0.02654	T	1	.	2.0223	0.03512	0.3366:0.364:0.0893:0.21	rs1131215;rs3177922;rs3190915;rs9266166;rs17413622	98;98;73	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	Y	98;109	ENSP00000399168:D98Y;ENSP00000405931:D109Y	ENSP00000399168:D98Y	D	-	1	0	HLA-B	31432495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.850000	0.01670	-2.027000	0.00932	-6.206000	0.00000	GAC	C|0.417;A|0.583		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		A	31324516	C	A	31324516	3	1	47	1	0	0	0	0	1	0	0	0	7223	826	29	3	820	3	HLA-B	6	31324516	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		31324516	139790551	18	9877											
HLA-B	3106	bcgsc.ca	37	chr6	31324586	31324586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctcctgctctatccaCggcgcccgcggctcctctct	9	21	2	0	rs1050556|rs281864598	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:31324586C>T	ENST00000412585.2	-	2	250	c.222G>A	c.(220-222)ccG>ccA	p.P74P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	74	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCTATCCACGGCGCCCGCG	0.662									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	3211	0.641174	0.5855	0.6383	5008	,	,		7989	0.7133		0.5417	False		,,,				2504	0.7464				p.P74P		.											.	HLA-B-90	0			c.G222A						.	T		1533,2743		437,659,1042	42	41	41		222	-4.5	0	6	dbSNP_86	41	2590,5718		796,998,2360	no	coding-synonymous	HLA-B	NM_005514.6		1233,1657,3402	TT,TC,CC		31.1748,35.8513,32.7638		74/363	31324586	4123,8461	2138	4154	6292	SO:0001819	synonymous_variant	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	TATCCACGGCGCC	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.222G>A	6.37:g.31324586C>T		Somatic	170	3		WXS	Illumina GAIIx	Phase_I	89	28	NM_005514	0	0	67	67	0	Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.662	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		T	31324586	C	T	31324586	2	4	47	1	0	0	0	0	0	0	0	1	7223	523	19	1		1	HLA-B	6	31324586	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	70	31324586	139790481	19	9878											
VARS	7407	hgsc.bcm.edu	37	chr6	31762843	31762844	+	Missense_Mutation	DNP	GG	GG	CT													gcaggcggggtgggggaaagGgagtcctgctagtcgggggt					rs2607015|rs2753960|rs67600122	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:31762843_31762844GG>CT	ENST00000375663.3	-	2	591_592	c.151_152CC>AG	c.(151-153)CCc>AGc	p.P51S	LSM2_ENST00000491421.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	51			P -> R (in dbSNP:rs2607015).|P -> T (in dbSNP:rs2753960).	P -> S (in Ref. 1; CAA41990 and 7; AAH12808). {ECO:0000305}.	gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGGGGAAAGGGAGTCCTGCTA	0.733																																					p.P51S		.											.	VARS-93	0			c.C151A						.																																			SO:0001583	missense	7407	exon2			GAAAGGGAGTCCT	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.151_152delinsCT	6.37:g.31762843_31762844delinsCT	ENSP00000364815:p.Pro51Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	0	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	DNP	ENST00000375663.3	37	CCDS34412.1																																																																																			G|0.721;T|0.279		0.733	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		CT	31762844	GG	CT	31762843	3	2	47	1	0	0	0	0	1	0	0	0	17172	1232	43	3	3758	3	VARS	6	31762843	Missense_Mutation	DNP	GG	TCGA-OR-A5L9-01A-11D-A29I-10	438257	31762843	139352224	20	9879											
HLA-DRB1	3123	bcgsc.ca	37	chr6	32557436	32557436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttacgtcgggtgtccccagaCaaagccagtggggagctcag	14	11	1	1	rs201614260	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:32557436C>G	ENST00000360004.5	-	1	189	c.84G>C	c.(82-84)ttG>ttC	p.L28F		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	28					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGTCCCCAGACAAAGCCAGTG	0.562										Multiple Myeloma(14;0.17)			C|||	367	0.0732827	0.1203	0.0418	5008	,	,		18341	0.0645		0.0467	False		,,,				2504	0.0685				p.L28F		.											.	HLA-DRB1-1	0			c.G84C						.						60	74	69					6																	32557436		1511	2703	4214	SO:0001583	missense	3123	exon1			CCCAGACAAAGCC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.84G>C	6.37:g.32557436C>G	ENSP00000353099:p.Leu28Phe	Somatic	222	3		WXS	Illumina GAIIx	Phase_I	143	18	NM_002124	0	0	0	0	0	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	9.089	1.001307	0.19121	.	.	ENSG00000196126	ENST00000360004	T	0.00285	8.3	4.4	1.61	0.23674	MHC classes I/II-like antigen recognition protein (1);	2.322490	0.02041	N	0.049330	T	0.00241	0.0007	M	0.66939	2.045	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.52094	-0.8621	10	0.59425	D	0.04	.	4.7485	0.13049	0.0:0.6181:0.18:0.202	.	28	P01911	2B1F_HUMAN	F	28	ENSP00000353099:L28F	ENSP00000353099:L28F	L	-	3	2	HLA-DRB1	32665414	0.061000	0.20836	0.005000	0.12908	0.026000	0.11368	0.237000	0.17985	0.518000	0.28383	-0.359000	0.07587	TTG	C|0.936;G|0.064		0.562	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		G	32557436	C	G	32557436	3	3	47	1	0	0	0	0	1	0	0	0	7235	477	17	3	740	3	HLA-DRB1	6	32557436	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	794593	32557436	138557631	21	9880											
TRERF1	55809	broad.mit.edu	37	chr6	42196330	42196330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaaagccgccttctgaGccttttgcctctgttgttcc	8	14	2	1			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:42196330G>T	ENST00000372922.4	-	18	3918	c.3356C>A	c.(3355-3357)gCt>gAt	p.A1119D	TRERF1_ENST00000354325.2_Missense_Mutation_p.A1036D|TRERF1_ENST00000340840.2_Missense_Mutation_p.A1048D|TRERF1_ENST00000541110.1_Missense_Mutation_p.A1139D|TRERF1_ENST00000372917.4_Missense_Mutation_p.A1048D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1119	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCTTCTGAGCCTTTTGCCT	0.547																																					p.A1119D		.											.	TRERF1-230	0			c.C3356A						.						240	269	259					6																	42196330		2203	4300	6503	SO:0001583	missense	55809	exon18			TTCTGAGCCTTTT	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.3356C>A	6.37:g.42196330G>T	ENSP00000362013:p.Ala1119Asp	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	24	3	NM_033502	0	0	1	1	0	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554640	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.89	5.03	0.67393	.	0.000000	0.64402	D	0.000017	T	0.33702	0.0872	L	0.27053	0.805	0.51012	D	0.999908	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.999;0.996	T	0.37267	-0.9713	10	0.72032	D	0.01	-13.0755	16.6624	0.85244	0.0:0.0:0.8691:0.1309	.	1036;1139;1119;875;887	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	D	1139;1048;1119;1048;1036	ENSP00000439689:A1139D;ENSP00000362008:A1048D;ENSP00000362013:A1119D;ENSP00000339438:A1048D;ENSP00000346285:A1036D	ENSP00000339438:A1048D	A	-	2	0	TRERF1	42304308	1.000000	0.71417	0.942000	0.38095	0.416000	0.31233	5.462000	0.66707	1.515000	0.48885	-0.224000	0.12420	GCT	.		0.547	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42196330	G	T	42196330	3	4	47	1	0	0	0	0	1	0	0	0	16523	971	34	3	250	3	TRERF1	6	42196330	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	9638894	42196330	128918737	22	9881											
FAM46A	55603	broad.mit.edu	37	chr6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-													gcccaccgaagctgccgccaCcgccgaagtcgccgccgccg					rs375746695	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	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-90	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	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	80	10	NM_017633	0	0	0	0	0	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	47	1	0	1	0	1	0	0	0	0	5587	507	18	0	1205	0	FAM46A	6	82461728	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	TCGA-OR-A5L9-01A-11D-A29I-10	40265398	82461728	88653339	23	9882											
SYTL3	94120	broad.mit.edu	37	chr6	159086557	159086557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccggggcgccgtgtgcCggggctgcagccaccgcgtg	18	15	0	0	rs150257129		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr6:159086557C>T	ENST00000297239.9	+	4	435	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.R81W			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	81	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		CGCCGTGTGCCGGGGCTGCAG	0.657													C|||	1	0.000199681	0	0	5008	,	,		15938	0		0.001	False		,,,				2504	0				p.R81W		.											.	SYTL3-90	0			c.C241T						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	4,4390		0,4,2193	27	25	26		241,241,241,241	4.9	0.9	6	dbSNP_134	26	16,8570		0,16,4277	no	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	101,101,101,101	0,20,6470	TT,TC,CC		0.1863,0.091,0.1541	probably-damaging,probably-damaging,probably-damaging,probably-damaging	81/543,81/611,81/611,81/543	159086557	20,12960	2197	4293	6490	SO:0001583	missense	94120	exon6			GTGTGCCGGGGCT	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.241C>T	6.37:g.159086557C>T	ENSP00000297239:p.Arg81Trp	Somatic	39	1		WXS	Illumina GAIIx	Phase_I	92	4	NM_001242384	0	0	0	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.65	3.441920	0.63067	9.1E-4	0.001863	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.79247	-1.25;-1.25	5.8	4.93	0.64822	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	1.302330	0.04573	N	0.393563	T	0.79423	0.4443	M	0.69358	2.11	0.80722	D	1	D;D	0.71674	0.995;0.998	P;P	0.52856	0.517;0.711	T	0.70464	-0.4864	10	0.62326	D	0.03	.	13.0579	0.58990	0.4301:0.5699:0.0:0.0	.	81;81	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	W	81	ENSP00000353631:R81W;ENSP00000297239:R81W	ENSP00000297239:R81W	R	+	1	2	SYTL3	159006545	0.996000	0.38824	0.950000	0.38849	0.789000	0.44602	0.745000	0.26259	1.453000	0.47775	0.561000	0.74099	CGG	C|0.998;T|0.002		0.657	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			T	159086557	C	T	159086557	3	4	47	1	0	0	0	0	1	0	0	0	15531	643	23	1	247	1	SYTL3	6	159086557	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	76624829	159086557	12028510	24	9883											
EGFR	1956	bcgsc.ca	37	chr7	55249063	55249063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacctccaccgtgcaGctcatcacgcagctcatgcc	7	19	4	0	rs1050171	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr7:55249063G>A	ENST00000275493.2	+	20	2538	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q	EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Silent_p.Q742Q|EGFR_ENST00000454757.2_Silent_p.Q734Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	787	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> R (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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)	CCACCGTGCAGCTCATCACGC	0.612		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G|||	2167	0.432708	0.4175	0.5519	5008	,	,		21551	0.1825		0.6074	False		,,,				2504	0.4468				p.Q787Q		.	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-44910	0			c.G2361A	GRCh37	CM067987	EGFR	M	rs1050171	.	G		1862,2544	540.1+/-375.4	382,1098,723	107	92	97		2361	4.9	1	7	dbSNP_86	97	5193,3407	638.8+/-399.4	1572,2049,679	no	coding-synonymous	EGFR	NM_005228.3		1954,3147,1402	AA,AG,GG		39.6163,42.2606,45.7558		787/1211	55249063	7055,5951	2203	4300	6503	SO:0001819	synonymous_variant	1956	exon20	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	CGTGCAGCTCATC		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.2361G>A	7.37:g.55249063G>A		Somatic	250	1		WXS	Illumina GAIIx	Phase_I	263	8	NM_005228	0	0	0	0	0	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																			G|0.497;A|0.503		0.612	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55249063	G	A	55249063	2	1	47	1	0	0	0	0	0	0	0	1	4981	962	34	3		3	EGFR	7	55249063	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		55249063	103889600	25	9884											
GAL3ST4	79690	bcgsc.ca	37	chr7	99758136	99758136	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagacagagtccagccaTgccagaccccactggatgaa	9	13	1	4	rs3800951	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr7:99758136T>G	ENST00000360039.4	-	4	1268	c.876A>C	c.(874-876)gcA>gcC	p.A292A	C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.H191P|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.H191P|GAL3ST4_ENST00000426974.2_Silent_p.A230A|GAL3ST4_ENST00000413800.1_Silent_p.A292A|C7orf43_ENST00000419841.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	292					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCAGCCATGCCAGACCCC	0.527													G|||	2721	0.543331	0.4622	0.4366	5008	,	,		20997	0.6438		0.5606	False		,,,				2504	0.6074				p.A292A		.											.	GAL3ST4-47	0			c.A876C						.	G		2219,2187		551,1117,535	97	89	92		876	0.7	1	7	dbSNP_107	92	4919,3681		1421,2077,802	no	coding-synonymous	GAL3ST4	NM_024637.4		1972,3194,1337	GG,GT,TT		42.8023,49.6369,45.1176		292/487	99758136	7138,5868	2203	4300	6503	SO:0001819	synonymous_variant	79690	exon4			CAGCCATGCCAGA	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.876A>C	7.37:g.99758136T>G		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	132	6	NM_024637	0	0	0	0	0	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	CCDS5688.1	1132	0.5183150183150184	204	0.4146341463414634	155	0.4281767955801105	343	0.5996503496503497	430	0.5672823218997362	G	9.010	0.982263	0.18889	0.503631	0.571977	ENSG00000197093	ENST00000423751;ENST00000411994	.	.	.	4.82	0.712	0.18167	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999823277	.	.	.	.	.	.	T	0.43877	-0.9364	4	0.87932	D	0	-9.2138	3.645	0.08181	0.269:0.0:0.4415:0.2895	rs3800951;rs17845360;rs17858211;rs56997718;rs3800951	.	.	.	P	191	.	ENSP00000414733:H191P	H	-	2	0	GAL3ST4	99596072	0.108000	0.22018	0.991000	0.47740	0.906000	0.53458	-0.016000	0.12613	-0.279000	0.09167	-0.285000	0.09966	CAT	T|0.464;G|0.536		0.527	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		G	99758136	T	G	99758136	2	3	47	1	0	0	0	0	0	0	0	1	6225	1451	51	5		5	GAL3ST4	7	99758136	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	44509073	99758136	59380527	26	9885											
RELN	5649	broad.mit.edu	37	chr7	103206814	103206814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgagagctgtcattcAttcctataagaacatcatcc	6	10	3	2			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr7:103206814A>G	ENST00000428762.1	-	33	4952	c.4793T>C	c.(4792-4794)aTg>aCg	p.M1598T	RELN_ENST00000343529.5_Missense_Mutation_p.M1598T|RELN_ENST00000424685.2_Missense_Mutation_p.M1598T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1598					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)		GCTGTCATTCATTCCTATAAG	0.393																																					p.M1598T	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.T4793C						.						92	91	91					7																	103206814		2203	4300	6503	SO:0001583	missense	5649	exon33			TCATTCATTCCTA		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.4793T>C	7.37:g.103206814A>G	ENSP00000392423:p.Met1598Thr	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	66	3	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588830	0.66105	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38560	1.13;1.91;1.13	6.08	6.08	0.98989	.	0.038217	0.85682	D	0.000000	T	0.59266	0.2181	M	0.70595	2.14	0.52501	D	0.999951	D;P	0.55385	0.971;0.892	P;P	0.58210	0.832;0.835	T	0.55897	-0.8068	10	0.29301	T	0.29	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1598;1598	P78509-2;P78509	.;RELN_HUMAN	T	1598	ENSP00000392423:M1598T;ENSP00000345694:M1598T;ENSP00000388446:M1598T	ENSP00000345694:M1598T	M	-	2	0	RELN	102994050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.711000	0.91396	2.333000	0.79357	0.533000	0.62120	ATG	.		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103206814	A	G	103206814	3	3	47	1	0	0	0	0	1	0	0	0	13265	217	8	4	5721	4	RELN	7	103206814	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	3448678	103206814	55931849	27	9886											
SLC37A3	84255	bcgsc.ca	37	chr7	140080087	140080087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgttctgcttacctccaCaggcagctcaactgacgtgt	8	14	3	1	rs62490396	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr7:140080087C>G	ENST00000326232.9	-	3	396	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	SLC37A3_ENST00000461089.1_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.V65L|SLC37A3_ENST00000340308.3_Missense_Mutation_p.V65L|SLC37A3_ENST00000429996.2_Missense_Mutation_p.V65L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	65				V -> L (in Ref. 1; BAC11231). {ECO:0000305}.	carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V65L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTTACCTCCACAGGCAGCTCA	0.463													C|||	1875	0.374401	0.2103	0.3602	5008	,	,		18303	0.4474		0.4592	False		,,,				2504	0.4438				p.V65L	Esophageal Squamous(133;211 1716 4665 11387 37873)	.											.	SLC37A3-93	1	Substitution - Missense(1)	stomach(1)	c.G193C						.	C	LEU/VAL,LEU/VAL	1109,3297	399.2+/-331.1	139,831,1233	121	96	105		193,193	1.9	0.4	7	dbSNP_129	105	3941,4659	548.9+/-385.4	888,2165,1247	yes	missense,missense	SLC37A3	NM_032295.2,NM_207113.1	32,32	1027,2996,2480	GG,GC,CC		45.8256,25.1702,38.8282	benign,benign	65/444,65/495	140080087	5050,7956	2203	4300	6503	SO:0001583	missense	84255	exon3			CCTCCACAGGCAG	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.193G>C	7.37:g.140080087C>G	ENSP00000321498:p.Val65Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	96	5	NM_207113	0	0	0	0	0	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	846	0.3873626373626374	102	0.2073170731707317	140	0.3867403314917127	253	0.4423076923076923	351	0.4630606860158311	C	8.305	0.820809	0.16678	0.251702	0.458256	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000429996;ENST00000539816;ENST00000469193	T;T;T;T;T	0.42131	2.3;2.58;2.59;0.98;1.0	4.93	1.88	0.25563	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.920160	0.02218	N	0.063802	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B	0.15473	0.0;0.002;0.013;0.002	B;B;B;B	0.13407	0.002;0.004;0.009;0.007	T	0.41502	-0.9505	9	0.20519	T	0.43	-23.4191	4.7566	0.13086	0.0:0.6204:0.1791:0.2005	rs62490396	65;65;65;65	F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;.;SPX3_HUMAN	L	65	ENSP00000343358:V65L;ENSP00000397481:V65L;ENSP00000321498:V65L;ENSP00000412208:V65L;ENSP00000419024:V65L	ENSP00000321498:V65L	V	-	1	0	SLC37A3	139726556	0.028000	0.19301	0.408000	0.26446	0.771000	0.43674	0.407000	0.21049	1.078000	0.41014	0.313000	0.20887	GTG	C|0.599;G|0.401		0.463	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		G	140080087	C	G	140080087	3	3	47	1	0	0	0	0	1	0	0	0	14644	478	17	3	1492	3	SLC37A3	7	140080087	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	36873273	140080087	19058576	28	9887											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	47	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		8560536	137803486	29	9888											
WWP1	11059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	87437479	87437479	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaagatcctcatggTagaacctattatgtggatca	8	7	2	3			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:87437479T>G	ENST00000517970.1	+	10	1396	c.1089T>G	c.(1087-1089)ggT>ggG	p.G363G	WWP1_ENST00000341922.2_Silent_p.G233G|WWP1_ENST00000265428.4_Silent_p.G363G|WWP1_ENST00000349423.2_Silent_p.G145G	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	363	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATCCTCATGGTAGAACCTATT	0.343																																					p.G363G		.											.	WWP1-659	0			c.T1089G						.						97	84	88					8																	87437479		2203	4298	6501	SO:0001819	synonymous_variant	11059	exon10			TCATGGTAGAACC	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.1089T>G	8.37:g.87437479T>G		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	56	19	NM_007013	0	0	0	0	0	O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																			.		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		G	87437479	T	G	87437479	2	3	47	1	0	0	0	0	0	0	0	1	17464	1625	57	5		5	WWP1	8	87437479	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	78876943	87437479	58926543	30	9889											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	47	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5L9-01A-11D-A29I-10	32783297	120220776	26143246	31	9890											
PLEC	5339	hgsc.bcm.edu	37	chr8	144990396	144990396	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgaggaccccgaggcGtagcggcggccgtagcccga	18	14	0	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:144990396G>T	ENST00000322810.4	-	32	14173	c.14004C>A	c.(14002-14004)taC>taA	p.Y4668*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y4517*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y4535*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y4531*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y4554*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y4509*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y4499*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y4531*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y4558*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4668	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCCCGAGGCGTAGCGGCGGC	0.736																																					p.Y4668X		.											.	PLEC-141	0			c.C14004A						.						2	2	2					8																	144990396		1014	2605	3619	SO:0001587	stop_gained	5339	exon32			CGAGGCGTAGCGG	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.14004C>A	8.37:g.144990396G>T	ENSP00000323856:p.Tyr4668*	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_201380	0	0	5	5	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	54	22.069074	0.99945	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.05	-3.4	0.04853	.	0.098474	0.41938	U	0.000797	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2579	0.54634	0.6136:0.0:0.3864:0.0	.	.	.	.	X	4531;4535;4531;4499;4668;4509;4517;4558;4554	.	ENSP00000323856:Y4668X	Y	-	3	2	PLEC	145062384	0.729000	0.28090	0.947000	0.38551	0.913000	0.54294	0.100000	0.15231	-0.491000	0.06697	-0.323000	0.08544	TAC	.		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144990396	G	T	144990396	4	4	47	1	0	0	0	0	0	1	0	0	12091	1140	40	2	54	2	PLEC	8	144990396	Nonsense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	24769620	144990396	1373626	32	9891											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998514	144998514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaggcgctcgttctcCgcctccttctccttgagcgc	10	19	2	1	rs75586449	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:144998514C>T	ENST00000322810.4	-	31	6163	c.5994G>A	c.(5992-5994)gcG>gcA	p.A1998A	PLEC_ENST00000356346.3_Silent_p.A1847A|PLEC_ENST00000357649.2_Silent_p.A1865A|PLEC_ENST00000345136.3_Silent_p.A1861A|PLEC_ENST00000527096.1_Silent_p.A1884A|PLEC_ENST00000354958.2_Silent_p.A1839A|PLEC_ENST00000398774.2_Silent_p.A1829A|PLEC_ENST00000354589.3_Silent_p.A1861A|PLEC_ENST00000436759.2_Silent_p.A1888A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1998	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGTTCTCCGCCTCCTTCT	0.726													T|||	349	0.0696885	0.0113	0.1412	5008	,	,		11250	0.0437		0.0358	False		,,,				2504	0.1595				p.A1998A		.											.	PLEC-141	0			c.G5994A						.	T	,,,,,,,	38,3548		0,38,1755	7	9	8		5664,5541,5517,5994,5487,5583,5595,5583	-5.2	0.8	8	dbSNP_131	8	272,7344		2,268,3538	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	2,306,5293	TT,TC,CC		3.5714,1.0597,2.7674	,,,,,,,	1888/4575,1847/4534,1839/4526,1998/4685,1829/4516,1861/4548,1865/4552,1861/4548	144998514	310,10892	1793	3808	5601	SO:0001819	synonymous_variant	5339	exon31			GTTCTCCGCCTCC	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.5994G>A	8.37:g.144998514C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_201380	0	0	1	1	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.961;T|0.039		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998514	C	T	144998514	2	4	47	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLEC	8	144998514	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	8118	144998514	1365508	33	9892											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	47	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	3074	145001588	1362434	34	9893											
ERMP1	79956	hgsc.bcm.edu	37	chr9	5832728	5832728	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactccccgcggtgtccagcGgccccgcgtagcacgagctg	13	17	0	0	rs1131727	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr9:5832728G>C	ENST00000339450.5	-	1	389	c.300C>G	c.(298-300)gcC>gcG	p.A100A	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	100						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)		GGTGTCCAGCGGCCCCGCGTA	0.741													G|||	2021	0.403554	0.1309	0.428	5008	,	,		3601	0.7093		0.34	False		,,,				2504	0.5051				p.A100A		.											.	ERMP1-69	0			c.C300G						.						4	3	3					9																	5832728		1620	3326	4946	SO:0001819	synonymous_variant	79956	exon1			TCCAGCGGCCCCG	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.300C>G	9.37:g.5832728G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_024896	0	0	0	0	0	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																			G|0.572;C|0.428		0.741	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		C	5832728	G	C	5832728	2	2	47	1	0	0	0	0	0	0	0	1	5252	1103	39	2		2	ERMP1	9	5832728	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		5832728	135380703	35	9894											
AQP7	364	ucsc.edu	37	chr9	33385287	33385287	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagttctccccatTgctgcaggcaagaggcagag	10	15	1	2	rs74557595		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr9:33385287T>C	ENST00000537089.1	-	0	1145				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)		TTCTCCCCATTGCTGCAGGCA	0.612																																					p.N249D		.											.	AQP7-90	0			c.A745G						.						59	62	61					9																	33385287		2202	4298	6500	SO:0001624	3_prime_UTR_variant	364	exon8			CCCCATTGCTGCA	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.*329A>G	9.37:g.33385287T>C		Somatic	27	2		WXS	Illumina GAIIx	Phase_I	31	8	NM_001170	0	0	0	0	0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	c	9.798	1.179797	0.21787	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000439678	T;T;T	0.11063	2.81;2.81;2.81	4.27	3.35	0.38373	Aquaporin-like (2);	.	.	.	.	T	0.07683	0.0193	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	8	0.39692	T	0.17	-1.4238	6.1852	0.20493	0.0:0.7595:0.0:0.2405	.	249	O14520	AQP7_HUMAN	D	248;249;157	ENSP00000368821:N248D;ENSP00000297988:N249D;ENSP00000410138:N157D	ENSP00000297988:N249D	N	-	1	0	AQP7	33375287	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.126000	0.15769	0.443000	0.26582	-0.251000	0.11542	AAT	.		0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		C	33385287	T	C	33385287	1	2	47	0	1	0	0	0	0	0	0	0	831	1826	63	4		4	AQP7	9	33385287	3'UTR	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	27552559	33385287	107828144	36	9895											
CA9	768	hgsc.bcm.edu	37	chr9	35675852	35675852	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgccttctgcccggcCctgcgccccctggaactcct	9	22	1	0	rs2301370	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr9:35675852C>G	ENST00000378357.4	+	3	632	c.528C>G	c.(526-528)gcC>gcG	p.A176A		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	176	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)	TCTGCCCGGCCCTGCGCCCCC	0.746													C|||	384	0.0766773	0.1036	0.0231	5008	,	,		9673	0.1458		0.0417	False		,,,				2504	0.0429				p.A176A		.											.	CA9-95	0			c.C528G						.	C		277,3595		7,263,1666	11	13	12		528	2	1	9	dbSNP_100	12	173,7849		1,171,3839	no	coding-synonymous	CA9	NM_001216.2		8,434,5505	GG,GC,CC		2.1566,7.1539,3.7834		176/460	35675852	450,11444	1936	4011	5947	SO:0001819	synonymous_variant	768	exon3			CCCGGCCCTGCGC	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.528C>G	9.37:g.35675852C>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	27	16	NM_001216	0	0	0	0	0	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																			C|0.941;G|0.059		0.746	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		G	35675852	C	G	35675852	2	3	47	1	0	0	0	0	0	0	0	1	2531	610	22	3		3	CA9	9	35675852	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	2290565	35675852	105537579	37	9896											
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA													catcttgtctcccagcgtcaINStcttgtctcccagtgtccaa					rs567658963|rs536300617	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		Somatic	414	0		WXS	Illumina GAIIx	Phase_I	358	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		TCTTGTCTCCCAGCGTCA	90534193	-	TCTTGTCTCCCAGCGTCA	90534192	6	5	47	0	1	1	1	0	0	0	0	0	5645	217	8	0		0	FAM75C1	9	90534192	RNA	INS	-	TCGA-OR-A5L9-01A-11D-A29I-10	54858340	90534192	50679239	38	9897											
C9orf86	55684	bcgsc.ca	37	chr9	139732331	139732331	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagagccagtcccggccgcaGagggcccagcaacggtccag	14	16	0	2	rs2811741	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr9:139732331G>C	ENST00000311502.7	+	10	1380	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	RABL6_ENST00000371675.3_Missense_Mutation_p.E267Q|RABL6_ENST00000371663.4_Missense_Mutation_p.E383Q|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_Missense_Mutation_p.E344Q			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	382	Pro-rich.		E -> Q (in dbSNP:rs2811741). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16582619, ECO:0000269|Ref.5}.		small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCGGCCGCAGAGGGCCCAGC	0.642													G|||	4034	0.805511	0.8079	0.7104	5008	,	,		14169	0.8681		0.8171	False		,,,				2504	0.7935				p.E383Q		.											.	.	0			c.G1147C						.	G	GLN/GLU,GLN/GLU	3158,666		1295,568,49	20	23	22		1147,1144	4.3	0.2	9	dbSNP_100	22	6564,1434		2688,1188,123	yes	missense,missense	C9orf86	NM_001173988.1,NM_024718.4	29,29	3983,1756,172	CC,CG,GG		17.9295,17.4163,17.7635	probably-damaging,probably-damaging	383/731,382/730	139732331	9722,2100	1912	3999	5911	SO:0001583	missense	55684	exon10			GCCGCAGAGGGCC	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.1144G>C	9.37:g.139732331G>C	ENSP00000311134:p.Glu382Gln	Somatic	458	1		WXS	Illumina GAIIx	Phase_I	490	16	NM_001173988	0	0	1	1	0	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	CCDS48058.1	1766	0.8086080586080586	383	0.7784552845528455	266	0.7348066298342542	494	0.8636363636363636	623	0.8218997361477572	.	15.54	2.865124	0.51482	0.825837	0.820705	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000432842;ENST00000371675;ENST00000435930	T;T;T;T;T	0.66099	-0.15;-0.15;0.86;-0.15;-0.19	4.29	4.29	0.51040	.	0.727918	0.12514	N	0.462204	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	D;D;D	0.76494	0.999;0.998;0.996	D;D;P	0.67382	0.943;0.951;0.895	T	0.21314	-1.0249	9	0.30854	T	0.27	-26.66	15.766	0.78126	0.0:0.0:1.0:0.0	rs2811741;rs3739953	176;383;382	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	Q	383;382;344;267;176	ENSP00000360727:E383Q;ENSP00000311134:E382Q;ENSP00000414081:E344Q;ENSP00000360740:E267Q;ENSP00000408442:E176Q	ENSP00000311134:E382Q	E	+	1	0	C9orf86	138852152	1.000000	0.71417	0.192000	0.23308	0.005000	0.04900	3.689000	0.54706	1.950000	0.56595	0.313000	0.20887	GAG	G|0.806;C|0.194		0.642	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		C	139732331	G	C	139732331	3	2	47	1	0	0	0	0	1	0	0	0	2509	943	33	3	1429	3	C9orf86	9	139732331	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	49198139	139732331	1481100	39	9898											
TMEM72	643236	bcgsc.ca	37	chr10	45430462	45430462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatagtcccctccctcgcCgaaggtctggatgatgggga	13	13	1	1	rs17417442	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr10:45430462C>T	ENST00000544540.1	+	4	838	c.354C>T	c.(352-354)gcC>gcT	p.A118A	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	236						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CCTCCCTCGCCGAAGGTCTGG	0.592													c|||	1670	0.333466	0.3086	0.4438	5008	,	,		18282	0.3274		0.3986	False		,,,				2504	0.228				p.A236A		.											.	TMEM72-90	0			c.C708T						.	G		1040,2096		167,706,695	111	113	113		708	-10.8	0	10	dbSNP_123	113	3019,4145		625,1769,1188	no	coding-synonymous	TMEM72	NM_001123376.1		792,2475,1883	TT,TC,CC		42.1413,33.1633,39.4078		236/276	45430462	4059,6241	1568	3582	5150	SO:0001819	synonymous_variant	643236	exon5			CCTCGCCGAAGGT	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.354C>T	10.37:g.45430462C>T		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	124	6	NM_001123376	0	0	0	0	0	A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37																																																																																				C|0.634;T|0.366		0.592	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		T	45430462	C	T	45430462	2	4	47	1	0	0	0	0	0	0	0	1	16248	639	23	1		1	TMEM72	10	45430462	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		45430462	90104285	40	9899											
GDF10	2662	hgsc.bcm.edu	37	chr10	48438647	48438649	+	In_Frame_Del	DEL	GCA	GCA	-													gagcaacagcagaaacaacgGcagcagcagcagcagcagct					rs34420310|rs71023176|rs71522826		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	GCA	GCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr10:48438647_48438649delGCA	ENST00000224605.2	-	1	327_329	c.62_64delTGC	c.(61-66)ctgccg>ccg	p.L21del		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	21					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agaaacaacggcagcagcagcag	0.729																																					p.21_22del		.											.	GDF10-650	0			c.62_64del						.			30,1862		2,26,918						-1.9	0		dbSNP_126	6	155,4939		18,119,2410	no	coding	GDF10	NM_004962.3		20,145,3328	A1A1,A1R,RR		3.0428,1.5856,2.6482				185,6801				SO:0001651	inframe_deletion	2662	exon1			ACAACGGCAGCAG	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.62_64delTGC	10.37:g.48438656_48438658delGCA	ENSP00000224605:p.Leu21del	Somatic	2	1		WXS	Illumina GAIIx	Phase_I	34	28	NM_004962	0	0	0	0	0	Q5VSQ8|Q9UCX6	In_Frame_Del	DEL	ENST00000224605.2	37	CCDS7220.1																																																																																			-|0.500;CAG|0.500		0.729	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		-	48438649	GCA	-	48438647	7	5	47	1	0	1	0	1	0	0	0	0	6337	1203	42	0	1384	0	GDF10	10	48438647	In_Frame_Del	DEL	GCA	TCGA-OR-A5L9-01A-11D-A29I-10	3008185	48438647	87096100	41	9900											
TET1	80312	broad.mit.edu	37	chr10	70451264	70451264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctaccactcctgttgagcAccccaaccgtaatcatccaa	5	17	1	1			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr10:70451264A>C	ENST00000373644.4	+	12	6313	c.6104A>C	c.(6103-6105)cAc>cCc	p.H2035P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2035					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTGTTGAGCACCCCAACCGT	0.498																																					p.H2035P		.											.	TET1-663	0			c.A6104C						.						68	65	66					10																	70451264		2203	4300	6503	SO:0001583	missense	80312	exon12			TTGAGCACCCCAA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6104A>C	10.37:g.70451264A>C	ENSP00000362748:p.His2035Pro	Somatic	62	9		WXS	Illumina GAIIx	Phase_I	55	13	NM_030625	0	0	0	0	0	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595225	0.46318	.	.	ENSG00000138336	ENST00000373644	T	0.10668	2.85	5.6	1.85	0.25348	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.167810	0.05943	N	0.637427	T	0.13713	0.0332	L	0.47716	1.5	0.09310	N	1	P	0.43542	0.81	P	0.46629	0.522	T	0.23476	-1.0187	10	0.33141	T	0.24	.	3.9438	0.09339	0.6668:0.1303:0.0699:0.133	.	2035	Q8NFU7	TET1_HUMAN	P	2035	ENSP00000362748:H2035P	ENSP00000362748:H2035P	H	+	2	0	TET1	70121270	0.009000	0.17119	0.007000	0.13788	0.779000	0.44077	1.318000	0.33643	0.117000	0.18138	0.533000	0.62120	CAC	.		0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		C	70451264	A	C	70451264	3	2	47	1	0	0	0	0	1	0	0	0	15816	159	6	5	6146	5	TET1	10	70451264	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	22012617	70451264	65083483	42	9901											
PI4K2A	55361	bcgsc.ca	37	chr10	99410790	99410790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaagctgtgctgtccTtgctgctttggccgtgactg	13	11	0	2	rs7915721	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr10:99410790T>C	ENST00000370631.3	+	2	585	c.528T>C	c.(526-528)ccT>ccC	p.P176P	PI4K2A_ENST00000555577.1_Silent_p.P146P|PI4K2A_ENST00000370649.3_Silent_p.P146P	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	176	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.P176P(2)|p.P146P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGTGCTGTCCTTGCTGCTTTG	0.517													C|||	1715	0.342452	0.6233	0.2666	5008	,	,		20300	0.3006		0.2028	False		,,,				2504	0.2035				p.P176P		.											.	PI4K2A-226	3	Substitution - coding silent(3)	prostate(3)	c.T528C						.	C		2425,1981	556.8+/-379.6	676,1073,454	92	79	83		528	3.1	1	10	dbSNP_116	83	1911,6689	726.6+/-406.6	192,1527,2581	no	coding-synonymous	PI4K2A	NM_018425.2		868,2600,3035	CC,CT,TT		22.2209,44.9614,33.3385		176/480	99410790	4336,8670	2203	4300	6503	SO:0001819	synonymous_variant	55361	exon2			CTGTCCTTGCTGC	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.528T>C	10.37:g.99410790T>C		Somatic	169	1		WXS	Illumina GAIIx	Phase_I	145	5	NM_018425	0	0	0	0	0	D3DR59|Q9NSG8	Silent	SNP	ENST00000370631.3	37	CCDS7469.1																																																																																			T|0.663;C|0.337		0.517	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		C	99410790	T	C	99410790	2	2	47	1	0	0	0	0	0	0	0	1	11910	1596	56	4		4	PI4K2A	10	99410790	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	28959526	99410790	36123957	43	9902											
IRF7	3665	hgsc.bcm.edu	37	chr11	615103	615103	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggggtccccaccttgaaGatgcgcgcgtcggcctcgct	14	15	0	2	rs113083699	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:615103G>A	ENST00000397574.2	-	3	546	c.177C>T	c.(175-177)atC>atT	p.I59I	IRF7_ENST00000397566.1_Silent_p.I72I|IRF7_ENST00000397570.1_Silent_p.I59I|IRF7_ENST00000330243.5_Silent_p.I72I|IRF7_ENST00000348655.6_Silent_p.I59I|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397562.3_5'UTR	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	59					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCTTGAAGATGCGCGCGT	0.721													G|||	203	0.0405351	0.0772	0.0375	5008	,	,		12225	0.001		0.0527	False		,,,				2504	0.0215				p.I72I		.											.	IRF7-90	0			c.C216T						.	G	,,	153,3775		1,151,1812	5	6	6		177,177,216	3.6	1	11	dbSNP_132	6	310,7558		4,302,3628	no	coding-synonymous,coding-synonymous,coding-synonymous	IRF7	NM_001572.3,NM_004029.2,NM_004031.2	,,	5,453,5440	AA,AG,GG		3.94,3.8951,3.9251	,,	59/504,59/475,72/517	615103	463,11333	1964	3934	5898	SO:0001819	synonymous_variant	3665	exon1			CTTGAAGATGCGC	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.177C>T	11.37:g.615103G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_004031	0	0	1	1	0	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																			G|0.949;A|0.051		0.721	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		A	615103	G	A	615103	2	1	47	1	0	0	0	0	0	0	0	1	7862	932	33	3		3	IRF7	11	615103	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		615103	134391413	44	9903											
MUC2	4583	broad.mit.edu	37	chr11	1093314	1093314	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actacggtgaccccaaccccAacacccaccggcacacagac	6	20	0	2			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:1093314A>T	ENST00000441003.2	+	30	5160	c.5133A>T	c.(5131-5133)ccA>ccT	p.P1711P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.P1678P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccccaaccccaacacccaccg	0.637																																					p.P1711P		.											.	MUC2-90	0			c.A5133T						.						148	194	178					11																	1093314		1911	3574	5485	SO:0001819	synonymous_variant	4583	exon30			AACCCCAACACCC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5133A>T	11.37:g.1093314A>T		Somatic	111	1		WXS	Illumina GAIIx	Phase_I	208	8	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093314	A	T	1093314	2	4	47	1	0	0	0	0	0	0	0	1	10013	117	5	5		5	MUC2	11	1093314	Silent	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	478211	1093314	133913202	45	9904											
ART5	116969	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	3661315	3661315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagcctccgcccgtcCgcacggcctgattcaactcc	10	20	1	1	rs560195676		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:3661315C>T	ENST00000397068.3	-	2	736	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Missense_Mutation_p.R115Q|ART5_ENST00000359918.4_Missense_Mutation_p.R115Q	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	115					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)		TCCGCCCGTCCGCACGGCCTG	0.582													C|||	1	0.000199681	0	0	5008	,	,		17997	0.001		0	False		,,,				2504	0				p.R115Q		.											.	ART5-91	0			c.G344A						.						104	106	105					11																	3661315		2201	4298	6499	SO:0001583	missense	116969	exon2			CCCGTCCGCACGG	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.344G>A	11.37:g.3661315C>T	ENSP00000380258:p.Arg115Gln	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	141	8	NM_053017	0	0	0	0	0	C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060646	0.36373	.	.	ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918	T;T;T	0.13420	2.59;2.59;2.59	6.07	5.17	0.71159	.	0.118179	0.56097	N	0.000036	T	0.21921	0.0528	M	0.76433	2.335	0.34830	D	0.739546	B;P	0.41345	0.448;0.746	B;B	0.42188	0.08;0.379	T	0.36407	-0.9749	10	0.51188	T	0.08	-22.3377	13.1895	0.59702	0.0:0.9234:0.0:0.0766	.	115;115	Q96L15-2;Q96L15	.;NAR5_HUMAN	Q	115	ENSP00000380258:R115Q;ENSP00000380257:R115Q;ENSP00000352992:R115Q	ENSP00000352992:R115Q	R	-	2	0	ART5	3617891	0.020000	0.18652	0.769000	0.31535	0.070000	0.16714	1.581000	0.36558	1.578000	0.49821	0.655000	0.94253	CGG	.		0.582	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		T	3661315	C	T	3661315	3	4	47	1	0	0	0	0	1	0	0	0	1001	652	23	1	543	1	ART5	11	3661315	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	2568001	3661315	131345201	46	9905											
NLRP14	338323	broad.mit.edu	37	chr11	7064833	7064833	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttataaagacccccatttgAcacagatgaagtgctttttg	8	8	0	4			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:7064833A>C	ENST00000299481.4	+	4	1922	c.1576A>C	c.(1576-1578)Aca>Cca	p.T526P		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCCATTTGACACAGATGAA	0.383																																					p.T526P		.											.	NLRP14-295	0			c.A1576C						.						78	81	80					11																	7064833		2201	4296	6497	SO:0001583	missense	338323	exon4			CATTTGACACAGA	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1576A>C	11.37:g.7064833A>C	ENSP00000299481:p.Thr526Pro	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	71	4	NM_176822	0	0	0	0	0	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	4.324	0.059508	0.08339	.	.	ENSG00000158077	ENST00000299481	D	0.83914	-1.78	4.55	-0.311	0.12761	.	2.255640	0.01604	N	0.022204	T	0.74884	0.3775	L	0.46819	1.47	0.09310	N	1	B	0.17268	0.021	B	0.18871	0.023	T	0.49370	-0.8947	10	0.29301	T	0.29	.	0.3988	0.00422	0.4164:0.1882:0.2136:0.1818	.	526	Q86W24	NAL14_HUMAN	P	526	ENSP00000299481:T526P	ENSP00000299481:T526P	T	+	1	0	NLRP14	7021409	0.935000	0.31712	0.017000	0.16124	0.172000	0.22775	1.754000	0.38369	0.054000	0.16065	0.533000	0.62120	ACA	.		0.383	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7064833	A	C	7064833	3	2	47	1	0	0	0	0	1	0	0	0	10515	275	10	5	1586	5	NLRP14	11	7064833	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	3403518	7064833	127941683	47	9906											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	47	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	58714757	65779590	69226926	48	9907											
USP2	9099	hgsc.bcm.edu	37	chr11	119234664	119234664	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggcgggaaagggggcggcGggggggtcctcgggcagggt	26	7	0	0	rs201288742	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr11:119234664G>C	ENST00000260187.2	-	3	1069				USP2_ENST00000455332.2_Intron|USP2_ENST00000525735.1_Silent_p.P14P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2						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)		AGGGGGCGGCGGGGGGGTCCT	0.736													G|||	30	0.00599042	8e-04	0.0101	5008	,	,		5033	0		0.0199	False		,,,				2504	0.002				p.P14P		.											.	USP2-661	0			c.C42G						.						2	2	2					11																	119234664		1456	3127	4583	SO:0001627	intron_variant	9099	exon1			GGCGGCGGGGGGG	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.775-3720C>G	11.37:g.119234664G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	21	19	NM_171997	0	0	0	0	0	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																			G|0.991;C|0.009		0.736	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		C	119234664	G	C	119234664	1	2	47	0	1	0	0	0	0	0	0	0	17100	1103	39	2		2	USP2	11	119234664	Intron	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	53455074	119234664	15771852	49	9908											
VWF	7450	broad.mit.edu	37	chr12	6132943	6132944	+	Frame_Shift_Ins	INS	-	-	C													gcagacatccagatatggctINScggggtccacctgcaaaggc					rs267607316		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr12:6132943_6132944insC	ENST00000261405.5	-	25	3486_3487	c.3232_3233insG	c.(3232-3234)gagfs	p.E1078fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1078					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)	CAGATATGGCTCGGGGTCCACC	0.564																																					p.E1078fs		.											.	VWF-163	0			c.3233_3234insG	GRCh37	CM043597	VWF	M		.																																			SO:0001589	frameshift_variant	7450	exon25			TATGGCTCGGGGT		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.3233dupG	12.37:g.6132944_6132944dupC	ENSP00000261405:p.Glu1078fs	Somatic	364	0		WXS	Illumina GAIIx	Phase_I	616	9	NM_000552	0	0	0	0	0	Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	CCDS8539.1																																																																																			.		0.564	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6132944	-	C	6132943	7	5	47	1	0	1	1	0	0	0	0	0	17295	1551	54	0	5320	0	VWF	12	6132943	Frame_Shift_Ins	INS	-	TCGA-OR-A5L9-01A-11D-A29I-10		6132943	127718952	50	9909											
ATXN2	6311	hgsc.bcm.edu	37	chr12	112036797	112036797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgctgctgctgctg	14	12	0	0	rs4098854	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000608853.1_Silent_p.Q14Q|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_Silent_p.Q174Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1	1	1					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_002973	0	0	4	4	0	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	112036797	C	T	112036797	2	4	47	1	0	0	0	0	0	0	0	1	1212	796	28	3		3	ATXN2	12	112036797	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	105903854	112036797	21815098	51	9910											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000407967.3_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	47	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	5151110	117187907	16663988	52	9911											
SRRM4	84530	hgsc.bcm.edu	37	chr12	119594447	119594447	+	Missense_Mutation	SNP	A	A	C													agtcggagccggagccggagAcggagccggacccgcacgag							TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr12:119594447A>C	ENST00000267260.4	+	13	2068	c.1680A>C	c.(1678-1680)agA>agC	p.R560S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	560	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ggagccggagacggagccgga	0.736																																					p.R560S		.											.	SRRM4-2	0			c.A1680C						.						6	8	8					12																	119594447		1970	4135	6105	SO:0001583	missense	84530	exon13			CCGGAGACGGAGC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1680A>C	12.37:g.119594447A>C	ENSP00000267260:p.Arg560Ser	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	74	17	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	A	9.506	1.104372	0.20632	.	.	ENSG00000139767	ENST00000267260	T	0.18338	2.22	5.61	1.72	0.24424	.	0.162693	0.52532	N	0.000070	T	0.06508	0.0167	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	.	.	.	-3.8367	4.911	0.13821	0.1374:0.5626:0.0:0.3	.	560	A7MD48	SRRM4_HUMAN	S	560	ENSP00000267260:R560S	.	R	+	3	2	SRRM4	118078830	0.028000	0.19301	0.045000	0.18777	0.360000	0.29518	-1.168000	0.03123	0.332000	0.23536	-0.775000	0.03384	AGA	.		0.736	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		C	119594447	A	C	119594447	3	2	47	1	0	0	0	0	1	0	0	0	15218	272	10	5	1730	5	SRRM4	12	119594447	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	2406540	119594447	14257448	53	9912	102	2									
SRRM4	84530	hgsc.bcm.edu	37	chr12	119594453	119594453	+	Missense_Mutation	SNP	C	C	A													agccggagccggagacggagCcggacccgcacgagcagcag							TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr12:119594453C>A	ENST00000267260.4	+	13	2074	c.1686C>A	c.(1684-1686)agC>agA	p.S562R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	562	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ggagacggagccggaCCCGCA	0.736																																					p.S562R		.											.	SRRM4-2	0			c.C1686A						.						6	8	7					12																	119594453		1971	4126	6097	SO:0001583	missense	84530	exon13			ACGGAGCCGGACC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1686C>A	12.37:g.119594453C>A	ENSP00000267260:p.Ser562Arg	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	59	10	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530109	0.45073	.	.	ENSG00000139767	ENST00000267260	T	0.38722	1.12	4.84	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	N	0.08118	0	0.28436	N	0.917054	D	0.64830	0.994	P	0.60682	0.878	T	0.12167	-1.0558	9	.	.	.	-2.3885	10.1265	0.42652	0.0:0.9021:0.0:0.0979	.	562	A7MD48	SRRM4_HUMAN	R	562	ENSP00000267260:S562R	.	S	+	3	2	SRRM4	118078836	0.974000	0.33945	0.902000	0.35471	0.844000	0.47949	0.453000	0.21811	2.242000	0.73789	0.650000	0.86243	AGC	.		0.736	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119594453	C	A	119594453	3	1	47	1	0	0	0	0	1	0	0	0	15218	738	26	3	1736	3	SRRM4	12	119594453	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	6	119594453	14257442	54	9913	102	2									
HNRNPA1L2	144983	hgsc.bcm.edu	37	chr13	53217493	53217493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaagctctggcccctAtggcggtggaggccaatact	14	11	1	1	rs78872760	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr13:53217493A>G	ENST00000357495.2	+	1	926	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.Y289C|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.Y289C			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	289	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.			Y -> C (in Ref. 4; AAI08267). {ECO:0000305}.	alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						TCTGGCCCCTATGGCGGTGGA	0.463													-|||	857	0.171126	0.0174	0.1066	5008	,	,		21078	0.4206		0.1551	False		,,,				2504	0.184				p.Y289C		.											.	HNRNPA1L2-90	0			c.A866G						.	G	CYS/TYR,CYS/TYR	103,3207		1,101,1553	43	51	48		866,866	-0.7	0.8	13	dbSNP_131	48	806,5424		52,702,2361	no	missense,missense	HNRNPA1L2	NM_001011724.1,NM_001011725.1	194,194	53,803,3914	GG,GA,AA		12.9374,3.1118,9.5283	probably-damaging,probably-damaging	289/321,289/321	53217493	909,8631	1655	3115	4770	SO:0001583	missense	144983	exon7			GCCCCTATGGCGG		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.866A>G	13.37:g.53217493A>G	ENSP00000350090:p.Tyr289Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001011724	0	0	129	132	3	Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	CCDS31980.1	417	0.19093406593406592	15	0.03048780487804878	45	0.12430939226519337	237	0.4143356643356643	120	0.158311345646438	N	3.587	-0.084471	0.07097	0.031118	0.129374	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.86097	-2.07;-2.07;-2.07	0.352	-0.704	0.11256	.	.	.	.	.	T	0.00012	0.0000	L	0.52759	1.655	0.45621	P	0.0014499999999999513	D	0.63046	0.992	P	0.49451	0.611	T	0.22906	-1.0203	8	0.56958	D	0.05	.	4.0376	0.09737	0.7167:0.0:0.2833:0.0	.	289	Q32P51	RA1L2_HUMAN	C	289	ENSP00000341285:Y289C;ENSP00000381119:Y289C;ENSP00000350090:Y289C	ENSP00000341285:Y289C	Y	+	2	0	HNRNPA1L2	52115494	0.998000	0.40836	0.839000	0.33178	0.057000	0.15508	2.154000	0.42291	-1.490000	0.01842	-2.001000	0.00444	TAT	A|0.826;G|0.174		0.463	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		G	53217493	A	G	53217493	3	3	47	1	0	0	0	0	1	0	0	0	7285	449	16	4	868	4	HNRNPA1L2	13	53217493	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10		53217493	61952385	55	9914											
ARHGEF7	8874	bcgsc.ca	37	chr13	111870037	111870037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttttaggacatgaccgaTaatagcaacaatcaactggt	7	10	1	1	rs2296354	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr13:111870037T>C	ENST00000375741.2	+	6	793	c.543T>C	c.(541-543)gaT>gaC	p.D181D	ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Silent_p.D160D|ARHGEF7_ENST00000375736.4_Silent_p.D3D|ARHGEF7_ENST00000375737.5_Silent_p.D78D|ARHGEF7_ENST00000375723.1_Silent_p.D3D|ARHGEF7_ENST00000218789.5_Silent_p.D3D|ARHGEF7_ENST00000375739.2_Silent_p.D131D|ARHGEF7_ENST00000426073.2_Silent_p.D3D|ARHGEF7_ENST00000370623.3_Silent_p.D88D	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	181					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGACCGATAATAGCAACA	0.388													T|||	1246	0.248802	0.025	0.1225	5008	,	,		18731	0.6825		0.174	False		,,,				2504	0.271				p.D181D		.											.	ARHGEF7-232	0			c.T543C						.	T	,,,,	223,4183	134.5+/-170.7	3,217,1983	115	109	111		543,393,9,9,480	-3.1	0.4	13	dbSNP_100	111	1437,7163	276.7+/-292.4	115,1207,2978	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF7	NM_001113511.1,NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2	,,,,	118,1424,4961	CC,CT,TT		16.7093,5.0613,12.7633	,,,,	181/804,131/754,3/647,3/647,160/783	111870037	1660,11346	2203	4300	6503	SO:0001819	synonymous_variant	8874	exon6			GACCGATAATAGC	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.543T>C	13.37:g.111870037T>C		Somatic	215	0		WXS	Illumina GAIIx	Phase_I	204	8	NM_001113511	0	0	0	0	0	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1																																																																																			T|0.807;C|0.193		0.388	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		C	111870037	T	C	111870037	2	2	47	1	0	0	0	0	0	0	0	1	911	1403	49	4		4	ARHGEF7	13	111870037	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	58652544	111870037	3299841	56	9915											
NDRG2	57447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21488972	21488972	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccaggatgtaggctccagCtccaacaccaactccaatta	7	15	0	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr14:21488972C>G	ENST00000556147.1	-	7	1379	c.439G>C	c.(439-441)Gct>Cct	p.A147P	NDRG2_ENST00000403829.3_Missense_Mutation_p.A143P|NDRG2_ENST00000397853.3_Missense_Mutation_p.A147P|NDRG2_ENST00000397855.3_Missense_Mutation_p.A133P|NDRG2_ENST00000397844.2_Missense_Mutation_p.A133P|NDRG2_ENST00000298684.5_Missense_Mutation_p.A133P|NDRG2_ENST00000553503.1_Missense_Mutation_p.A133P|NDRG2_ENST00000397858.1_Missense_Mutation_p.A147P|NDRG2_ENST00000554104.1_Missense_Mutation_p.A60P|NDRG2_ENST00000397851.2_Missense_Mutation_p.A147P|NDRG2_ENST00000555158.1_Missense_Mutation_p.A133P|NDRG2_ENST00000350792.3_Missense_Mutation_p.A133P|NDRG2_ENST00000360463.3_Missense_Mutation_p.A133P|NDRG2_ENST00000397847.2_Missense_Mutation_p.A147P|NDRG2_ENST00000298687.5_Missense_Mutation_p.A147P|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000554143.1_Missense_Mutation_p.A133P|NDRG2_ENST00000397856.3_Missense_Mutation_p.A133P			Q9UN36	NDRG2_HUMAN	NDRG family member 2	147					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TAGGCTCCAGCTCCAACACCA	0.458																																					p.A147P		.											.	NDRG2-154	0			c.G439C						.						100	98	99					14																	21488972		2203	4300	6503	SO:0001583	missense	57447	exon7			CTCCAGCTCCAAC	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.439G>C	14.37:g.21488972C>G	ENSP00000451712:p.Ala147Pro	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	34	22	NM_201537	0	0	0	2	2	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	ENST00000556147.1	37	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310095|4.310095	0.81358|0.81358	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000557633;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026;ENST00000553867;ENST00000449431;ENST00000557169;ENST00000555869;ENST00000557182;ENST00000555733;ENST00000555384;ENST00000554094;ENST00000553442;ENST00000556420;ENST00000553784;ENST00000557149;ENST00000555142;ENST00000554531;ENST00000557264;ENST00000557676;ENST00000556924;ENST00000556329;ENST00000554398;ENST00000554472;ENST00000554483|ENST00000553593	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;T;T;T;T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.76;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.76;1.76;1.51;1.51;1.51;1.51;1.51;1.51;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;1.76;1.76;1.76;1.76;1.76;1.76|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.046306|.	0.85682|.	D|.	0.000000|.	D|D	0.84800|0.84800	0.5552|0.5552	M|M	0.90309|0.90309	3.105|3.105	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|.	0.79108|.	0.988;0.987;0.979;0.979;0.992;0.98|.	D|D	0.87073|0.87073	0.2161|0.2161	10|5	0.87932|.	D|.	0|.	-14.9714|-14.9714	17.3958|17.3958	0.87444|0.87444	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	143;147;133;128;147;133|.	B4DE86;Q9UN36-3;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4|.	.;.;.;.;NDRG2_HUMAN;.|.	P|D	147;133;128;147;90;60;133;133;147;133;147;133;147;147;133;133;133;133;143;133;60;133;133;147;108;133;133;92;147;147;133;133;133;147;133;133;136;133;133;133;133;147;147;133|62	ENSP00000298687:A147P;ENSP00000344620:A133P;ENSP00000380956:A147P;ENSP00000450835:A90P;ENSP00000452216:A60P;ENSP00000452038:A133P;ENSP00000452306:A133P;ENSP00000380951:A147P;ENSP00000353649:A133P;ENSP00000451712:A147P;ENSP00000452006:A133P;ENSP00000380949:A147P;ENSP00000380945:A147P;ENSP00000380954:A133P;ENSP00000380953:A133P;ENSP00000298684:A133P;ENSP00000380943:A133P;ENSP00000385889:A143P;ENSP00000451966:A133P;ENSP00000452413:A60P;ENSP00000452362:A133P;ENSP00000451274:A133P;ENSP00000450691:A147P;ENSP00000397250:A108P;ENSP00000452334:A133P;ENSP00000451105:A133P;ENSP00000450545:A92P;ENSP00000452482:A147P;ENSP00000451094:A147P;ENSP00000452278:A133P;ENSP00000450493:A133P;ENSP00000451951:A133P;ENSP00000451059:A147P;ENSP00000452592:A133P;ENSP00000450513:A133P;ENSP00000451302:A136P;ENSP00000451471:A133P;ENSP00000452548:A133P;ENSP00000450504:A133P;ENSP00000452262:A133P;ENSP00000451185:A147P;ENSP00000451348:A147P;ENSP00000451472:A133P|.	ENSP00000298684:A133P|.	A|E	-|-	1|3	0|2	NDRG2|NDRG2	20558812|20558812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.406000|0.406000	0.30931|0.30931	7.147000|7.147000	0.77382|0.77382	2.706000|2.706000	0.92434|0.92434	0.563000|0.563000	0.77884|0.77884	GCT|GAG	.		0.458	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			G	21488972	C	G	21488972	3	3	47	1	0	0	0	0	1	0	0	0	10291	797	28	3	716	3	NDRG2	14	21488972	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		21488972	85860568	57	9916											
SAMD4A	23034	hgsc.bcm.edu	37	chr14	55227152	55227152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgcgatggggagctgGccgtcgcccccctgccagag	16	15	0	1	rs149416017	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr14:55227152G>T	ENST00000554335.1	+	7	2113	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	SAMD4A_ENST00000555192.1_Missense_Mutation_p.A75S|SAMD4A_ENST00000357634.3_Missense_Mutation_p.A483S|SAMD4A_ENST00000251091.5_Missense_Mutation_p.A396S|SAMD4A_ENST00000392067.3_Missense_Mutation_p.A484S			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	484					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						TGGGGAGCTGGCCGTCGCCCC	0.682													G|||	40	0.00798722	0.0023	0.0159	5008	,	,		13068	0		0.0249	False		,,,				2504	0.001				p.A484S		.											.	SAMD4A-90	0			c.G1450T						.	G	SER/ALA,SER/ALA,SER/ALA	21,3909		0,21,1944	4	6	5		1183,223,1447	5.2	1	14	dbSNP_134	5	153,7591		3,147,3722	no	missense,missense,missense	SAMD4A	NM_001161576.2,NM_001161577.1,NM_015589.5	99,99,99	3,168,5666	TT,TG,GG		1.9757,0.5344,1.4905	benign,benign,benign	395/630,75/346,483/718	55227152	174,11500	1965	3872	5837	SO:0001583	missense	23034	exon6			GAGCTGGCCGTCG	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.1450G>T	14.37:g.55227152G>T	ENSP00000452535:p.Ala484Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015589	0	0	0	0	0	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	29	0.013278388278388278	1	0.0020325203252032522	8	0.022099447513812154	0	0.0	20	0.026385224274406333	G	15.72	2.917871	0.52546	0.005344	0.019757	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.22	5.22	0.72569	.	0.112512	0.64402	D	0.000017	T	0.20251	0.0487	N	0.12182	0.205	0.34882	D	0.744671	B;B;B	0.16802	0.019;0.011;0.003	B;B;B	0.23574	0.047;0.037;0.002	T	0.34650	-0.9820	9	0.28530	T	0.3	-24.0747	18.9689	0.92707	0.0:0.0:1.0:0.0	.	75;396;484	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	S	484;484;396;395;483;75	.	ENSP00000251091:A113S	A	+	1	0	SAMD4A	54296902	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	5.707000	0.68370	2.711000	0.92665	0.609000	0.83330	GCC	G|0.987;T|0.013		0.682	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55227152	G	T	55227152	3	4	47	1	0	0	0	0	1	0	0	0	13866	1203	42	3	1469	3	SAMD4A	14	55227152	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	33738180	55227152	52122388	58	9917											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	47	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		65369395	37161997	59	9918											
PLIN1	5346	hgsc.bcm.edu	37	chr15	90209135	90209135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgggttgtcgatgtcccgGaattcgctctcgggctccat	14	11	1	0	rs8179074	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr15:90209135G>A	ENST00000300055.5	-	9	1413	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	PLIN1_ENST00000430628.2_Silent_p.F416F	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	416					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CGATGTCCCGGAATTCGCTCT	0.741													G|||	104	0.0207668	0.0015	0.0288	5008	,	,		8462	0		0.0716	False		,,,				2504	0.0102				p.F416F		.											.	PLIN1-91	0			c.C1248T						.	G	,	31,3055		0,31,1512	4	5	4		1248,1248	0.6	1	15	dbSNP_117	4	256,5878		2,252,2813	no	coding-synonymous,coding-synonymous	PLIN1	NM_001145311.1,NM_002666.4	,	2,283,4325	AA,AG,GG		4.1735,1.0045,3.1128	,	416/523,416/523	90209135	287,8933	1543	3067	4610	SO:0001819	synonymous_variant	5346	exon9			GTCCCGGAATTCG	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1248C>T	15.37:g.90209135G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001145311	0	0	0	0	0	Q8N5Y6	Silent	SNP	ENST00000300055.5	37	CCDS10353.1																																																																																			G|0.976;A|0.024		0.741	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		A	90209135	G	A	90209135	2	1	47	1	0	0	0	0	0	0	0	1	12128	1165	41	3		3	PLIN1	15	90209135	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	24839740	90209135	12322257	60	9919											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	47	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		3304573	87050180	61	9920											
ANKS3	124401	hgsc.bcm.edu	37	chr16	4748461	4748461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacgagggcagcatcccggGccagggcccacgtctcccgc	15	17	1	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr16:4748461G>C	ENST00000304283.4	-	14	1985	c.1691C>G	c.(1690-1692)gCc>gGc	p.A564G	ANKS3_ENST00000446014.2_Missense_Mutation_p.A435G|ANKS3_ENST00000585773.1_Missense_Mutation_p.A491G	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	564										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGCATCCCGGGCCAGGGCCCA	0.741																																					p.A564G		.											.	ANKS3-90	0			c.C1691G						.						5	7	6					16																	4748461		2074	4112	6186	SO:0001583	missense	124401	exon14			TCCCGGGCCAGGG	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1691C>G	16.37:g.4748461G>C	ENSP00000304586:p.Ala564Gly	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	21	5	NM_133450	0	0	1	1	0	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052383	0.55218	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.38722	1.12;2.84	5.46	3.39	0.38822	.	0.177969	0.50627	D	0.000117	T	0.36991	0.0987	M	0.64997	1.995	0.51233	D	0.999918	B	0.32245	0.361	B	0.27608	0.081	T	0.37126	-0.9719	10	0.62326	D	0.03	-21.4157	9.6942	0.40147	0.0772:0.1417:0.7811:0.0	.	564	Q6ZW76	ANKS3_HUMAN	G	564;435	ENSP00000304586:A564G;ENSP00000406796:A435G	ENSP00000304586:A564G	A	-	2	0	ANKS3	4688462	0.937000	0.31787	0.017000	0.16124	0.006000	0.05464	2.972000	0.49256	1.312000	0.45043	0.551000	0.68910	GCC	.		0.741	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		C	4748461	G	C	4748461	3	2	47	1	0	0	0	0	1	0	0	0	690	1203	42	3	295	3	ANKS3	16	4748461	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	1443888	4748461	85606292	62	9921											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	47	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	52814343	57562804	32791949	63	9922											
SPNS3	201305	bcgsc.ca	37	chr17	4391132	4391132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgatgtggacagcaaCgacctggagagacaaggcct	13	9	0	2	rs2291743	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:4391132C>T	ENST00000355530.2	+	12	1762	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	SPNS3_ENST00000333476.2_Silent_p.N367N|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	494					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.N494N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TGGACAGCAACGACCTGGAGA	0.622													C|||	775	0.154752	0.0567	0.1715	5008	,	,		18930	0.0437		0.3171	False		,,,				2504	0.2229				p.N494N		.											.	SPNS3-153	1	Substitution - coding silent(1)	stomach(1)	c.C1482T						.	C		402,4004	200.4+/-223.7	21,360,1822	130	119	123		1482	-3.1	0	17	dbSNP_100	123	2582,6018	419.5+/-353.1	371,1840,2089	no	coding-synonymous	SPNS3	NM_182538.4		392,2200,3911	TT,TC,CC		30.0233,9.1239,22.9433		494/513	4391132	2984,10022	2203	4300	6503	SO:0001819	synonymous_variant	201305	exon12			CAGCAACGACCTG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1482C>T	17.37:g.4391132C>T		Somatic	266	2		WXS	Illumina GAIIx	Phase_I	244	8	NM_182538	0	0	2	2	0	Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																			C|0.793;T|0.207		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		T	4391132	C	T	4391132	2	4	47	1	0	0	0	0	0	0	0	1	15123	535	19	1		1	SPNS3	17	4391132	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10		4391132	76804078	64	9923			1	48		2	2	22	N	C_A	6.10511e-05
SPNS3	201305	bcgsc.ca	37	chr17	4391153	4391153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctggagagacaaggcctActttcgggcgctggcgcctc	14	13	0	1	rs333122	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:4391153A>G	ENST00000355530.2	+	12	1783	c.1503A>G	c.(1501-1503)ctA>ctG	p.L501L	SPNS3_ENST00000333476.2_Silent_p.L374L|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	501					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L501L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GACAAGGCCTACTTTCGGGCG	0.622													G|||	869	0.173522	0.1256	0.1729	5008	,	,		18292	0.0446		0.3171	False		,,,				2504	0.2239				p.L501L		.											.	SPNS3-153	1	Substitution - coding silent(1)	stomach(1)	c.A1503G						.	G		626,3780	767.8+/-413.5	50,526,1627	114	104	107		1503	1.2	0	17	dbSNP_79	107	2537,6063	692.6+/-404.6	364,1809,2127	no	coding-synonymous	SPNS3	NM_182538.4		414,2335,3754	GG,GA,AA		29.5,14.2079,24.3195		501/513	4391153	3163,9843	2203	4300	6503	SO:0001819	synonymous_variant	201305	exon12			AGGCCTACTTTCG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1503A>G	17.37:g.4391153A>G		Somatic	262	4		WXS	Illumina GAIIx	Phase_I	228	8	NM_182538	0	0	3	3	0	Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																			A|0.784;G|0.216		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		G	4391153	A	G	4391153	2	3	47	1	0	0	0	0	0	0	0	1	15123	378	14	4		4	SPNS3	17	4391153	Silent	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	21	4391153	76804057	65	9924			1	48		2	2	22	N	C_A	6.10511e-05
RNF135	84282	hgsc.bcm.edu	37	chr17	29298390	29298390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctccgaccctgcccActgcccctgcccgggctcca	12	21	0	0	rs368080023	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:29298390A>G	ENST00000328381.5	+	1	1172	c.299A>G	c.(298-300)cAc>cGc	p.H100R	RNF135_ENST00000535306.2_Missense_Mutation_p.H100R|RNF135_ENST00000443677.2_Missense_Mutation_p.H100R|RNF135_ENST00000324689.4_Missense_Mutation_p.H100R|RP11-848P1.2_ENST00000580979.1_RNA	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	100					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GACCCTGCCCACTGCCCCTGC	0.756													A|||	6	0.00119808	0	0.0029	5008	,	,		10218	0		0.004	False		,,,				2504	0				p.H100R		.											.	RNF135-227	1	Unknown(1)	central_nervous_system(1)	c.A299G						.	A	ARG/HIS,ARG/HIS,ARG/HIS	0,2936		0,0,1468	2	2	2		299,299,299	-1.2	0	17		2	12,5934		0,12,2961	no	missense,missense,missense	RNF135	NM_001184992.1,NM_032322.3,NM_197939.1	29,29,29	0,12,4429	GG,GA,AA		0.2018,0.0,0.1351	benign,benign,benign	100/287,100/433,100/211	29298390	12,8870	1468	2973	4441	SO:0001583	missense	84282	exon1			CTGCCCACTGCCC	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.299A>G	17.37:g.29298390A>G	ENSP00000328340:p.His100Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_197939	0	0	0	0	0	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	a	0.017	-1.494607	0.01009	0.0	0.002018	ENSG00000181481	ENST00000328381;ENST00000324689;ENST00000535306;ENST00000443677	T;T;T	0.55588	0.51;3.04;3.0	0.605	-1.21	0.09524	Zinc finger, RING/FYVE/PHD-type (1);	0.542584	0.13900	N	0.354951	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14012	0.003;0.009;0.005;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.10543	-1.0625	10	0.25106	T	0.35	-2.718	6.0937	0.20008	0.7348:0.2652:0.0:0.0	.	100;100;100;100	F5GX60;Q8IUD6-2;B2R7G9;Q8IUD6	.;.;.;RN135_HUMAN	R	100;100;100;34	ENSP00000328340:H100R;ENSP00000323693:H100R;ENSP00000440470:H100R	ENSP00000323693:H100R	H	+	2	0	RNF135	26322516	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.954000	0.03873	-1.399000	0.02063	-0.708000	0.03648	CAC	.		0.756	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		G	29298390	A	G	29298390	3	3	47	1	0	0	0	0	1	0	0	0	13485	159	6	4	301	4	RNF135	17	29298390	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	24907237	29298390	51896820	66	9925											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													ggtcctgcagcaggtggtctINSggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192				p.Q82delinsRPSCCQ		.											.	KRTAP4-5-90	0			c.245_246insGCCCCAGCTGCTGCC						.																																			SO:0001652	inframe_insertion	85289	exon1			GTGGTCTGGCAGC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	97	51	NM_033188	0	0	0	0	0		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																			.		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GGCAGCAGCTGGGGC	39305776	-	GGCAGCAGCTGGGGC	39305775	7	5	47	1	0	1	1	0	0	0	0	0	8582	1580	55	0	304	0	KRTAP4-5	17	39305775	In_Frame_Ins	INS	-	TCGA-OR-A5L9-01A-11D-A29I-10	10007385	39305775	41889435	67	9926											
TTLL6	284076	hgsc.bcm.edu	37	chr17	46846505	46846505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagcaggtccctcagaGtaacattatagctctgagga	9	11	3	2			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:46846505G>T	ENST00000393382.3	-	15	2663	c.2522C>A	c.(2521-2523)aCt>aAt	p.T841N	TTLL6_ENST00000433608.2_Missense_Mutation_p.T534N	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						GTCCCTCAGAGTAACATTATA	0.567																																					p.T841N		.											.	TTLL6-90	0			c.C2522A						.						60	52	54					17																	46846505		2203	4300	6503	SO:0001583	missense	284076	exon15			CTCAGAGTAACAT	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.2522C>A	17.37:g.46846505G>T	ENSP00000377043:p.Thr841Asn	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_001130918	0	0	0	0	0		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820358	0.32145	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.52	4.49	0.54785	.	.	.	.	.	T	0.31009	0.0783	L	0.36672	1.1	0.09310	N	1	P;B	0.34462	0.454;0.187	B;B	0.25140	0.038;0.058	T	0.14282	-1.0478	8	0.45353	T	0.12	.	11.8241	0.52256	0.0:0.1763:0.8237:0.0	.	793;534	Q8N841;G5E937	TTLL6_HUMAN;.	N	841;534;519;793	.	ENSP00000302547:T534N	T	-	2	0	TTLL6	44201504	0.007000	0.16637	0.010000	0.14722	0.014000	0.08584	1.170000	0.31883	2.767000	0.95098	0.563000	0.77884	ACT	.		0.567	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		T	46846505	G	T	46846505	3	4	47	1	0	0	0	0	1	0	0	0	16780	1029	36	3	157	3	TTLL6	17	46846505	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	7540730	46846505	34348705	68	9927											
FADS6	283985	hgsc.bcm.edu	37	chr17	72889676	72889677	+	In_Frame_Ins	INS	-	-	GGCTCCGTAGGTTCCATC													tgggctccgtaggttccatgINSggctccgtgggttccatgga					rs4319809|rs1625113	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:72889676_72889677insGGCTCCGTAGGTTCCATC	ENST00000310226.6	-	1	31_32	c.17_18insGATGGAACCTACGGAGCC	c.(16-18)ccc>ccGATGGAACCTACGGAGCCc	p.6_6P>PMEPTEP		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	12	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TAGGTTCCATGGGCTCCGTGGG	0.728																																					p.P6delinsPMEPTEP		.											.	FADS6-22	0			c.18_19insGATGGAACCTACGGAGCC						.																																			SO:0001652	inframe_insertion	283985	exon1			TTCCATGGGCTCC	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.17_18insGATGGAACCTACGGAGCC	17.37:g.72889676_72889677insGGCTCCGTAGGTTCCATC	ENSP00000307821:p.MetGluProThrGluPro12dup	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	114	0	NM_178128	0	0	0	0	0	Q17RQ7|Q6XYE1	In_Frame_Ins	INS	ENST00000310226.6	37	CCDS54163.1																																																																																			.		0.728	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			GGCTCCGTAGGTTCCATC	72889677	-	GGCTCCGTAGGTTCCATC	72889676	7	5	47	1	0	1	1	0	0	0	0	0	5387	1335	47	0	1058	0	FADS6	17	72889676	In_Frame_Ins	INS	-	TCGA-OR-A5L9-01A-11D-A29I-10	26043171	72889676	8305534	69	9928											
EVPL	2125	bcgsc.ca	37	chr17	74014668	74014668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttataccgctcacccTgcagcagctgcacctggggg	11	16	1	0	rs2071192	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:74014668T>C	ENST00000301607.3	-	12	1551	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	EVPL_ENST00000586740.1_Missense_Mutation_p.Q433R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	433	Globular 1.		Q -> R (in dbSNP:rs2071192).		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						CCGCTCACCCTGCAGCAGCTG	0.672													C|||	3385	0.675919	0.6286	0.6326	5008	,	,		14530	0.755		0.6193	False		,,,				2504	0.7474				p.Q433R		.											.	EVPL-93	0			c.A1298G						.	C	ARG/GLN	2822,1584		928,966,309	20	23	22		1298	0.9	0.1	17	dbSNP_96	22	5547,3051		1793,1961,545	yes	missense	EVPL	NM_001988.2	43	2721,2927,854	CC,CT,TT		35.485,35.951,35.6429	benign	433/2034	74014668	8369,4635	2203	4299	6502	SO:0001583	missense	2125	exon12			TCACCCTGCAGCA	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.1298A>G	17.37:g.74014668T>C	ENSP00000301607:p.Gln433Arg	Somatic	190	2		WXS	Illumina GAIIx	Phase_I	230	8	NM_001988	0	0	0	0	0	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	1434	0.6565934065934066	306	0.6219512195121951	228	0.6298342541436464	423	0.7395104895104895	477	0.6292875989445911	C	0.007	-1.969808	0.00457	0.64049	0.64515	ENSG00000167880	ENST00000301607	T	0.55930	0.49	5.12	0.862	0.19056	.	0.111675	0.64402	N	0.000020	T	0.00012	0.0000	N	0.00128	-2.045	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45963	-0.9225	9	0.02654	T	1	-37.7909	10.6638	0.45717	0.0:0.6588:0.0:0.3412	rs2071192;rs60805472;rs2071192	433;433	B7ZLH8;Q92817	.;EVPL_HUMAN	R	433	ENSP00000301607:Q433R	ENSP00000301607:Q433R	Q	-	2	0	EVPL	71526263	0.000000	0.05858	0.082000	0.20525	0.039000	0.13416	0.965000	0.29319	-0.158000	0.11040	-0.930000	0.02707	CAG	T|0.239;G|0.223		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		C	74014668	T	C	74014668	3	2	47	1	0	0	0	0	1	0	0	0	5308	1580	55	4	4847	4	EVPL	17	74014668	Missense_Mutation	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	1124992	74014668	7180542	70	9929											
UTS2R	2837	broad.mit.edu	37	chr17	80333066	80333066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaccaggccccgctggCgccgcggacggcgcgcatcg	15	18	0	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr17:80333066C>A	ENST00000313135.2	+	1	914	c.866C>A	c.(865-867)gCg>gAg	p.A289E		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	289					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCCCCGCTGGCGCCGCGGACG	0.672																																					p.A289E		.											.	UTS2R-153	0			c.C866A						.																																			SO:0001583	missense	2837	exon1			CGCTGGCGCCGCG	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.866C>A	17.37:g.80333066C>A	ENSP00000323516:p.Ala289Glu	Somatic	32	1		WXS	Illumina GAIIx	Phase_I	114	7	NM_018949	0	0	0	0	0	B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313287	0.40996	.	.	ENSG00000181408	ENST00000313135	T	0.72051	-0.62	4.95	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.338048	0.28257	U	0.016009	T	0.61375	0.2342	N	0.17723	0.515	0.09310	N	1	P	0.42973	0.796	P	0.50791	0.65	T	0.55711	-0.8098	10	0.07644	T	0.81	.	14.9821	0.71319	0.0:0.5448:0.4552:0.0	.	289	Q9UKP6	UR2R_HUMAN	E	289	ENSP00000323516:A289E	ENSP00000323516:A289E	A	+	2	0	UTS2R	77926355	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.380000	0.20602	0.518000	0.28383	0.637000	0.83480	GCG	.		0.672	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		A	80333066	C	A	80333066	3	1	47	1	0	0	0	0	1	0	0	0	17155	768	27	2	868	2	UTS2R	17	80333066	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	6318398	80333066	862144	71	9930											
ZFR2	23217	hgsc.bcm.edu	37	chr19	3831404	3831404	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgctgggaagcggtggcttcGagtcggccctggggctgctt	18	10	0	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:3831404G>C	ENST00000262961.4	-	5	759	c.749C>G	c.(748-750)tCg>tGg	p.S250W	ZFR2_ENST00000591965.1_5'Flank	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	250	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGTGGCTTCGAGTCGGCCCT	0.716																																					p.S250W		.											.	ZFR2-70	0			c.C749G						.																																			SO:0001583	missense	23217	exon5			GGCTTCGAGTCGG	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.749C>G	19.37:g.3831404G>C	ENSP00000262961:p.Ser250Trp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	19	10	NM_015174	0	0	0	0	0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904941	0.33628	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15487	3.19;2.42	3.52	-0.00659	0.14012	.	.	.	.	.	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.31916	-0.9926	9	0.72032	D	0.01	4.7946	4.4246	0.11497	0.2239:0.3961:0.3801:0.0	.	250	Q9UPR6	ZFR2_HUMAN	W	250	ENSP00000262961:S250W;ENSP00000388974:S250W	ENSP00000262961:S250W	S	-	2	0	ZFR2	3782404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	-0.076000	0.12775	-1.121000	0.02013	TCG	.		0.716	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		C	3831404	G	C	3831404	3	2	47	1	0	0	0	0	1	0	0	0	17708	1059	37	2	2130	2	ZFR2	19	3831404	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10		3831404	55297579	72	9931											
PLIN5	440503	hgsc.bcm.edu	37	chr19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcgggcaggccccGcacgctggactccagagcct	16	17	0	1	rs1062223	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3	4	4		916	4.6	1	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001013706	0	0	0	0	0	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		A	4524016	G	A	4524016	3	1	47	1	0	0	0	0	1	0	0	0	12132	1086	38	1	479	1	PLIN5	19	4524016	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	692612	4524016	54604967	73	9932											
ZNF266	10781	bcgsc.ca	37	chr19	9524185	9524185	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacacgtgggaaacttaaaAgctttgccacattccataca	6	11	0	0	rs2241356	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:9524185A>G	ENST00000592904.1	-	5	3492	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	ZNF266_ENST00000588221.1_Silent_p.A472A|ZNF266_ENST00000592292.1_Silent_p.A472A|ZNF266_ENST00000588933.1_Silent_p.A472A|ZNF266_ENST00000590306.1_Silent_p.A472A|ZNF266_ENST00000361151.1_Silent_p.A472A|ZNF266_ENST00000361451.2_Silent_p.A472A			Q14584	ZN266_HUMAN	zinc finger protein 266	472					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.A472A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAAACTTAAAAGCTTTGCCAC	0.428													G|||	2976	0.594249	0.7466	0.5663	5008	,	,		21979	0.4613		0.5716	False		,,,				2504	0.5685				p.A472A		.											.	ZNF266-91	1	Substitution - coding silent(1)	stomach(1)	c.T1416C						.	G	,	3187,1219	423.0+/-339.9	1135,917,151	72	57	62		1416,1416	1.4	0.1	19	dbSNP_98	62	5079,3521	512.3+/-377.9	1513,2053,734	no	coding-synonymous,coding-synonymous	ZNF266	NM_006631.2,NM_198058.1	,	2648,2970,885	GG,GA,AA		40.9419,27.6668,36.4447	,	472/550,472/550	9524185	8266,4740	2203	4300	6503	SO:0001819	synonymous_variant	10781	exon11			CTTAAAAGCTTTG	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1416T>C	19.37:g.9524185A>G		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	176	6	NM_001271314	0	0	1	1	0	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	CCDS12213.1																																																																																			A|0.383;G|0.617		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			G	9524185	A	G	9524185	2	3	47	1	0	0	0	0	0	0	0	1	17853	59	3	4		4	ZNF266	19	9524185	Silent	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	5000169	9524185	49604798	74	9933											
NWD1	284434	broad.mit.edu	37	chr19	16859997	16859997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgagctcagaggaccggGaacagggagccaccgtcttc	14	12	2	2			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:16859997G>A	ENST00000552788.1	+	4	544	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NWD1_ENST00000339803.6_Missense_Mutation_p.E47K|NWD1_ENST00000379808.3_Missense_Mutation_p.E182K|NWD1_ENST00000524140.2_Missense_Mutation_p.E182K|NWD1_ENST00000549814.1_Missense_Mutation_p.E182K|NWD1_ENST00000523826.1_5'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	182							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGGACCGGGAACAGGGAGC	0.572																																					p.E182K		.											.	NWD1-7	0			c.G544A						.						69	55	60					19																	16859997		2203	4300	6503	SO:0001583	missense	284434	exon6			GACCGGGAACAGG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.544G>A	19.37:g.16859997G>A	ENSP00000447224:p.Glu182Lys	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	204	6	NM_001007525	0	0	0	0	0	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	g	0.284	-0.984184	0.02180	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803	T;T;T;T;T	0.54675	1.84;1.84;1.84;1.84;0.56	4.15	3.11	0.35812	.	1.135850	0.06493	N	0.735008	T	0.22704	0.0548	N	0.02011	-0.69	0.23396	N	0.997761	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.26395	-1.0104	10	0.06099	T	0.92	-6.1753	6.8731	0.24131	0.1279:0.0:0.8721:0.0	.	182;47	Q149M9-3;C9J2Y8	.;.	K	47;182;182;182;182;47	ENSP00000428579:E182K;ENSP00000447548:E182K;ENSP00000369136:E182K;ENSP00000447224:E182K;ENSP00000340159:E47K	ENSP00000340159:E47K	E	+	1	0	NWD1	16720997	0.293000	0.24371	0.007000	0.13788	0.005000	0.04900	2.408000	0.44574	1.879000	0.54435	0.442000	0.29010	GAA	.		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16859997	G	A	16859997	3	1	47	1	0	0	0	0	1	0	0	0	10820	1175	41	3	145	3	NWD1	19	16859997	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	7335812	16859997	42268986	75	9934											
GDF1	2657	hgsc.bcm.edu	37	chr19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgccccgcggccgagGcaggctccgaggcccgggtg	18	15	0	0	rs4808863	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2	2	2					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_001492	0	0	0	0	0	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		A	18980172	G	A	18980172	3	1	47	1	0	0	0	0	1	0	0	0	6336	1203	42	3	769	3	GDF1	19	18980172	Missense_Mutation	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	2120175	18980172	40148811	76	9935											
ZNF676	163223	hgsc.bcm.edu	37	chr19	22363460	22363460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaataatcttatgtttAgtaaggattgaggatcgatt	10	2	1	2	rs78757874		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:22363460A>G	ENST00000397121.2	-	3	1376	c.1059T>C	c.(1057-1059)acT>acC	p.T353T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				TCTTATGTTTAGTAAGGATTG	0.398																																					p.T353T		.											.	ZNF676-90	0			c.T1059C						.																																			SO:0001819	synonymous_variant	163223	exon3			ATGTTTAGTAAGG	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.1059T>C	19.37:g.22363460A>G		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	40	5	NM_001001411	0	0	0	0	0	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																			.		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		G	22363460	A	G	22363460	2	3	47	1	0	0	0	0	0	0	0	1	18131	407	15	4		4	ZNF676	19	22363460	Silent	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	3383288	22363460	36765523	77	9936											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127439	47127439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctggtggccggccccAccgagccccgcacgtaggtg	17	15	0	0	rs200213497	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:47127439A>G	ENST00000291294.2	-	2	177	c.44T>C	c.(43-45)gTg>gCg	p.V15A	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.V15A|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	15					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GGCCGGCCCCACCGAGCCCCG	0.721													A|||	11	0.00219649	0	0.0014	5008	,	,		14750	0		0.002	False		,,,				2504	0.0082				p.V15A		.											.	PTGIR-522	0			c.T44C						.	A	ALA/VAL	4,3360		0,4,1678	5	3	4		44	3.5	1	19		4	17,6937		0,17,3460	yes	missense	PTGIR	NM_000960.3	64	0,21,5138	GG,GA,AA		0.2445,0.1189,0.2035	possibly-damaging	15/387	47127439	21,10297	1682	3477	5159	SO:0001583	missense	5739	exon2			GGCCCCACCGAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.44T>C	19.37:g.47127439A>G	ENSP00000291294:p.Val15Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_000960	0	0	0	0	0		Missense_Mutation	SNP	ENST00000291294.2	37	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	A	4.849	0.157768	0.09236	0.001189	0.002445	ENSG00000160013	ENST00000291294	T	0.08807	3.05	4.57	3.5	0.40072	.	0.139105	0.45606	D	0.000349	T	0.04318	0.0119	N	0.14661	0.345	0.09310	N	1	B	0.27351	0.176	B	0.22753	0.041	T	0.41805	-0.9488	10	0.20519	T	0.43	-14.9576	8.3423	0.32252	0.6766:0.3234:0.0:0.0	.	15	P43119	PI2R_HUMAN	A	15	ENSP00000291294:V15A	ENSP00000291294:V15A	V	-	2	0	PTGIR	51819279	0.000000	0.05858	0.973000	0.42090	0.990000	0.78478	0.141000	0.16076	1.917000	0.55516	0.402000	0.26972	GTG	.		0.721	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127439	A	G	47127439	3	3	47	1	0	0	0	0	1	0	0	0	12794	159	6	4	1124	4	PTGIR	19	47127439	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	24763979	47127439	12001544	78	9937											
PPP1R15A	23645	bcgsc.ca	37	chr19	49377873	49377873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgattcagaagcagccttGggagaagctgagtcagaccc	13	9	2	5	rs35023389	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:49377873G>A	ENST00000200453.5	+	2	1652	c.1383G>A	c.(1381-1383)ttG>ttA	p.L461L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	461	4 X 34 AA approximate repeats.|Glu-rich.|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)		AAGCAGCCTTGGGAGAAGCTG	0.562													G|||	419	0.0836661	0.0877	0.0793	5008	,	,		18197	0.003		0.164	False		,,,				2504	0.0818				p.L461L		.											.	PPP1R15A-226	0			c.G1383A						.	G		576,3830	255.2+/-260.5	35,506,1662	73	74	73		1383	0.6	0	19	dbSNP_126	73	1549,7051	290.4+/-299.8	128,1293,2879	no	coding-synonymous	PPP1R15A	NM_014330.3		163,1799,4541	AA,AG,GG		18.0116,13.0731,16.3386		461/675	49377873	2125,10881	2203	4300	6503	SO:0001819	synonymous_variant	23645	exon2			AGCCTTGGGAGAA	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.1383G>A	19.37:g.49377873G>A		Somatic	222	2		WXS	Illumina GAIIx	Phase_I	189	8	NM_014330	0	0	11	11	0	B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	CCDS12738.1																																																																																			G|0.861;A|0.139		0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49377873	G	A	49377873	2	1	47	1	0	0	0	0	0	0	0	1	12405	1339	47	3		3	PPP1R15A	19	49377873	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	2250434	49377873	9751110	79	9938											
GYS1	2997	bcgsc.ca	37	chr19	49485548	49485548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgagccaatgcctccagGaagacgtcagcacccttgtt	10	14	1	1	rs5464	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:49485548G>A	ENST00000323798.3	-	7	1222	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.S223F|GYS1_ENST00000263276.6_Silent_p.F278F|GYS1_ENST00000541188.1_Silent_p.F262F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGCCTCCAGGAAGACGTCAG	0.517													G|||	1275	0.254593	0.2943	0.2608	5008	,	,		17958	0.2183		0.2922	False		,,,				2504	0.1953				p.F342F		.											.	GYS1-524	0			c.C1026T						.	G	,	1243,3163	431.0+/-342.8	197,849,1157	110	101	104		834,1026	4.2	1	19	dbSNP_52	104	2535,6065	415.4+/-351.8	365,1805,2130	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	562,2654,3287	AA,AG,GG		29.4767,28.2115,29.0481	,	278/674,342/738	49485548	3778,9228	2203	4300	6503	SO:0001819	synonymous_variant	2997	exon7			CTCCAGGAAGACG		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1026C>T	19.37:g.49485548G>A		Somatic	230	0		WXS	Illumina GAIIx	Phase_I	182	7	NM_002103	0	0	0	0	0	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1	589	0.2696886446886447	156	0.3170731707317073	100	0.27624309392265195	134	0.23426573426573427	199	0.262532981530343	G	12.39	1.922336	0.33908	0.282115	0.294767	ENSG00000104812	ENST00000540532	T	0.26373	1.74	5.21	4.16	0.48862	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.39974	P	0.025175999999999976	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-31.0172	8.5832	0.33642	0.1731:0.0:0.8269:0.0	rs5464;rs2228476;rs8192706;rs13306416;rs16981011;rs16981013;rs17206756;rs5464	.	.	.	F	223	ENSP00000445197:S223F	.	S	-	2	0	GYS1	54177360	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.703000	0.37846	2.613000	0.88420	0.650000	0.86243	TCC	G|0.713;A|0.287		0.517	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49485548	G	A	49485548	2	1	47	1	0	0	0	0	0	0	0	1	6939	1165	41	3		3	GYS1	19	49485548	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	107675	49485548	9643435	80	9939											
ZNF83	55769	bcgsc.ca	37	chr19	53116856	53116856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagaccttgccacacTcattacatttgtaaggtttc	7	10	1	2	rs199873537		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:53116856T>A	ENST00000597597.1	-	2	3215	c.962A>T	c.(961-963)gAg>gTg	p.E321V	ZNF83_ENST00000541777.2_Missense_Mutation_p.E321V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.E321V|ZNF83_ENST00000536937.1_Missense_Mutation_p.E321V|ZNF83_ENST00000544146.1_Missense_Mutation_p.E321V|ZNF83_ENST00000391789.4_Missense_Mutation_p.E293V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.E321V			P51522	ZNF83_HUMAN	zinc finger protein 83	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTTGCCACACTCATTACATTT	0.413																																					p.E321V		.											.	ZNF83-91	0			c.A962T						.						100	105	103					19																	53116856		2203	4300	6503	SO:0001583	missense	55769	exon3			CCACACTCATTAC	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.962A>T	19.37:g.53116856T>A	ENSP00000472619:p.Glu321Val	Somatic	121	2		WXS	Illumina GAIIx	Phase_I	185	10	NM_018300	0	0	5	6	1	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	9.585	1.124585	0.20959	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;3.42	2.1	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25269	0.0614	N	0.01668	-0.77	0.09310	N	0.999997	D;D	0.76494	0.965;0.999	P;D	0.91635	0.74;0.999	T	0.21724	-1.0237	9	0.52906	T	0.07	.	9.0405	0.36314	0.0:0.0:0.0:1.0	.	293;321	P51522-2;P51522	.;ZNF83_HUMAN	V	321;321;321;293;321;321;293	ENSP00000445993:E321V;ENSP00000301096:E321V;ENSP00000445470:E321V;ENSP00000440713:E321V;ENSP00000439681:E321V;ENSP00000375666:E293V	ENSP00000301096:E321V	E	-	2	0	ZNF83	57808668	0.000000	0.05858	0.523000	0.27875	0.041000	0.13682	-0.692000	0.05127	0.984000	0.38629	0.324000	0.21423	GAG	.		0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		A	53116856	T	A	53116856	3	1	47	1	0	0	0	0	1	0	0	0	18231	1551	54	5	592	5	ZNF83	19	53116856	Missense_Mutation	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	3631308	53116856	6012127	81	9940											
ZBTB45	84878	hgsc.bcm.edu	37	chr19	59028585	59028585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccagcaggtggcgcagGcggtgacgcagctgcgcagg	19	12	0	1	rs11545185	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr19:59028585G>A	ENST00000594051.1	-	2	936	c.456C>T	c.(454-456)cgC>cgT	p.R152R	ZBTB45_ENST00000600990.1_Silent_p.R152R|ZBTB45_ENST00000354590.3_Silent_p.R152R			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	152	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGGCGCAGGCGGTGACGCA	0.751											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	783	0.15635	0.171	0.1571	5008	,	,		12592	0.0556		0.2097	False		,,,				2504	0.1851				p.R152R	NSCLC(164;1383 2017 5233 27540 46677)	.											.	ZBTB45-90	0			c.C456T						.	G		607,3451		44,519,1466	9	12	11		456	0.6	1	19	dbSNP_120	11	1218,6788		98,1022,2883	no	coding-synonymous	ZBTB45	NM_032792.2		142,1541,4349	AA,AG,GG		15.2136,14.9581,15.1277		152/512	59028585	1825,10239	2029	4003	6032	SO:0001819	synonymous_variant	84878	exon2			GCGCAGGCGGTGA	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.456C>T	19.37:g.59028585G>A		Somatic	0	0	1035	WXS	Illumina GAIIx	Phase_I	4	4	NM_032792	0	0	0	0	0		Silent	SNP	ENST00000594051.1	37	CCDS12984.1																																																																																			G|0.844;A|0.156		0.751	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		A	59028585	G	A	59028585	2	1	47	1	0	0	0	0	0	0	0	1	17594	1190	42	3		3	ZBTB45	19	59028585	Silent	SNP	G	TCGA-OR-A5L9-01A-11D-A29I-10	5911729	59028585	100398	82	9941											
DSTN	11034	broad.mit.edu	37	chr20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T													gaaaagaaagaaggctgtcaINSttttttgtctcagtgcagac							TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																					p.I37fs		.											.	DSTN-154	0			c.109_110insT						.																																			SO:0001589	frameshift_variant	11034	exon2			GCTGTCATTTTTT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs	Somatic	120	3		WXS	Illumina GAIIx	Phase_I	203	22	NM_006870	0	0	0	0	0	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	CCDS13127.1																																																																																			.		0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		T	17581489	-	T	17581488	7	5	47	1	0	1	1	0	0	0	0	0	4798	217	8	0	115	0	DSTN	20	17581488	Frame_Shift_Ins	INS	-	TCGA-OR-A5L9-01A-11D-A29I-10		17581488	45444032	83	9942											
WISP2	8839	hgsc.bcm.edu	37	chr20	43348735	43348735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcaggacccggtggCcggggggccctgtgcctctg	19	15	1	0	rs2296530	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5	5	5		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_003881	0	0	0	1	1	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348735	C	A	43348735	2	1	47	1	0	0	0	0	0	0	0	1	17422	726	26	3		3	WISP2	20	43348735	Silent	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	25767247	43348735	19676785	84	9943											
MN1	4330	broad.mit.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgctgtTgctgctgctgctgctgctgc					rs34890218|rs45480998|rs45597040	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"																																p.532_533del		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	1	Substitution - coding silent(1)	prostate(1)	c.1596_1598del						.			226,138,2110		41,6,138,37,58,957						-0.4	1		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				SO:0001651	inframe_deletion	4330	exon1			TGCTGTTGCTGCT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	100	7	NM_002430	0	0	0	0	0	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	CCDS42998.1																																																																																			.		0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		-	28194936	TGC	-	28194934	7	5	47	1	0	1	0	1	0	0	0	0	9711	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-OR-A5L9-01A-11D-A29I-10		28194934	23109632	85	9944											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	47	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5L9-01A-11D-A29I-10	9927528	38122462	13182104	86	9945											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053				p.23_24del		.											.	SRPX-130	2	Deletion - In frame(2)	prostate(2)	c.68_70del						.																																			SO:0001651	inframe_deletion	8406	exon1			GGACGCGCAGCAG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	Somatic	5	0	875	WXS	Illumina GAIIx	Phase_I	43	0	NM_001170751	0	0	0	0	0	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	CCDS14245.1																																																																																			-|1.000;|0.000		0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		-	38079978	GCA	-	38079976	7	5	47	1	0	1	0	1	0	0	0	0	15211	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-OR-A5L9-01A-11D-A29I-10		38079976	117190584	87	9946											
HDAC6	10013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48676475	48676475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtggattgggatgtccaCcacggtaatggaactcagca	12	8	1	0			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:48676475C>A	ENST00000334136.5	+	21	2131	c.1953C>A	c.(1951-1953)caC>caA	p.H651Q	HDAC6_ENST00000444343.2_Missense_Mutation_p.H665Q|HDAC6_ENST00000376619.2_Missense_Mutation_p.H651Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	651	Histone deacetylase 2.				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)	GGGATGTCCACCACGGTAATG	0.607																																					p.H651Q	Pancreas(112;205 1675 2305 8976 15959)	.											.	HDAC6-230	0			c.C1953A						.						87	57	67					X																	48676475		2203	4297	6500	SO:0001583	missense	10013	exon21			TGTCCACCACGGT	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.1953C>A	X.37:g.48676475C>A	ENSP00000334061:p.His651Gln	Somatic	321	0		WXS	Illumina GAIIx	Phase_I	492	204	NM_006044	0	0	1	1	0	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406829	0.62399	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	D;D;D	0.96041	-3.89;-3.89;-3.89	5.35	-2.56	0.06268	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	H	0.98918	4.37	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	0.97489	1.0052	10	0.87932	D	0	-17.7276	12.1152	0.53861	0.0:0.6338:0.0:0.3662	.	641;299;651	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	Q	665;651;651;651	ENSP00000398566:H665Q;ENSP00000334061:H651Q;ENSP00000365804:H651Q	ENSP00000334061:H651Q	H	+	3	2	HDAC6	48561419	1.000000	0.71417	0.967000	0.41034	0.791000	0.44710	0.638000	0.24674	-0.356000	0.08187	-0.912000	0.02778	CAC	.		0.607	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48676475	C	A	48676475	3	1	47	1	0	0	0	0	1	0	0	0	7038	506	18	3	2031	3	HDAC6	23	48676475	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	10596499	48676475	106594085	88	9947											
FAM155B	27112	broad.mit.edu	37	chrX	68725179	68725181	+	In_Frame_Del	DEL	CTG	CTG	-													gacgccgccgcgctgactatCtgctgctgctgctgctgctg					rs374286243		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:68725179_68725181delCTG	ENST00000252338.4	+	1	96_98	c.54_56delCTG	c.(52-57)atctgc>atc	p.C24del	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	24	Poly-Cys.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGCTGACTATctgctgctgctgc	0.685																																					p.18_19del		.											.	FAM155B-131	0			c.54_56del						.			301,2703		28,218,27,1101,283						2.6	1			5	381,4605		40,195,106,1663,1084	no	coding	FAM155B	NM_015686.2		68,413,133,2764,1367	A1A1,A1R,A1,RR,R		7.6414,10.02,8.5357				682,7308				SO:0001651	inframe_deletion	27112	exon1			GACTATCTGCTGC	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.54_56delCTG	X.37:g.68725188_68725190delCTG	ENSP00000252338:p.Cys24del	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	84	8	NM_015686	0	0	0	0	0	B1ALV6|B9EGK1|D3DVU1	In_Frame_Del	DEL	ENST00000252338.4	37	CCDS35317.1																																																																																			.		0.685	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		-	68725181	CTG	-	68725179	7	5	47	1	0	1	0	1	0	0	0	0	5485	903	32	0	56	0	FAM155B	23	68725179	In_Frame_Del	DEL	CTG	TCGA-OR-A5L9-01A-11D-A29I-10	20048704	68725179	86545381	89	9948											
ZMYM3	9203	ucsc.edu;bcgsc.ca	37	chrX	70467669	70467669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttgctcggtgactccgCgctggcaggtctgggagcag	16	12	1	1			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:70467669C>T	ENST00000353904.2	-	12	2250	c.2063G>A	c.(2062-2064)cGc>cAc	p.R688H	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R690H|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R688H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R690H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R688H|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	688					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTGACTCCGCGCTGGCAGGT	0.547																																					p.R688H		.											.	ZMYM3-131	0			c.G2063A						.						56	44	48					X																	70467669		2203	4300	6503	SO:0001583	missense	9203	exon12			ACTCCGCGCTGGC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2063G>A	X.37:g.70467669C>T	ENSP00000343909:p.Arg688His	Somatic	321	2		WXS	Illumina GAIIx	Phase_I	441	181	NM_005096	0	0	0	0	0	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.210017	0.79240	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.49139	1.4;0.79;1.4;1.39;1.4	4.57	4.57	0.56435	TRASH (1);Zinc finger, MYM-type (1);	0.089541	0.48286	D	0.000191	T	0.54711	0.1875	N	0.19112	0.55	0.37070	D	0.898502	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.65747	-0.6093	10	0.62326	D	0.03	-8.8255	16.7485	0.85479	0.0:1.0:0.0:0.0	.	688;688	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	688;688;688;690;690	ENSP00000322845:R688H;ENSP00000363110:R688H;ENSP00000343909:R688H;ENSP00000363096:R690H;ENSP00000363100:R690H	ENSP00000322845:R688H	R	-	2	0	ZMYM3	70384394	0.987000	0.35691	0.932000	0.37286	0.965000	0.64279	2.713000	0.47194	2.127000	0.65507	0.429000	0.28392	CGC	.		0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70467669	C	T	70467669	3	4	47	1	0	0	0	0	1	0	0	0	17749	768	27	1	2105	1	ZMYM3	23	70467669	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	1742490	70467669	84802891	90	9949											
GPRASP2	114928	broad.mit.edu	37	chrX	101971018	101971018	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagcttcagcaatctgTgaatctgagccaggaactga	13	8	3	3			TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:101971018T>C	ENST00000535209.1	+	4	2052	c.1221T>C	c.(1219-1221)tgT>tgC	p.C407C	GPRASP2_ENST00000332262.5_Silent_p.C407C|GPRASP2_ENST00000543253.1_Silent_p.C407C			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	407						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGCAATCTGTGAATCTGAGC	0.557																																					p.C407C		.											.	GPRASP2-131	0			c.T1221C						.						61	64	63					X																	101971018		2203	4300	6503	SO:0001819	synonymous_variant	114928	exon4			AATCTGTGAATCT	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1221T>C	X.37:g.101971018T>C		Somatic	77	2		WXS	Illumina GAIIx	Phase_I	173	13	NM_138437	0	0	0	0	0	D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	CCDS14501.1																																																																																			.		0.557	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		C	101971018	T	C	101971018	2	2	47	1	0	0	0	0	0	0	0	1	6750	1702	59	4		4	GPRASP2	23	101971018	Silent	SNP	T	TCGA-OR-A5L9-01A-11D-A29I-10	31503349	101971018	53299542	91	9950											
G6PD	2539	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153761190	153761190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctccacatagaggacgaCggctgcaaaagtggcggtgg	14	9	1	1	rs369603624		TCGA-OR-A5L9-01A-11D-A29I-10	TCGA-OR-A5L9-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f6161f8d-580d-41fc-baa3-0dee1add1df0	388e61b1-2a1f-4cc8-b1c9-d1f0709621ec	g.chrX:153761190C>T	ENST00000393564.2	-	9	1130	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Missense_Mutation_p.V386I|G6PD_ENST00000393562.2_Missense_Mutation_p.V370I	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	340					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGAGGACGACGGCTGCAAAA	0.647																																					p.V370I		.											.	G6PD-135	0			c.G1108A						.		ILE/VAL,ILE/VAL	0,3835		0,0,1632,571	94	73	80		1018,1108	5.8	0	X		80	1,6727		0,1,2427,1872	no	missense,missense	G6PD	NM_001042351.1,NM_000402.3	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	340/516,370/546	153761190	1,10562	2203	4300	6503	SO:0001583	missense	2539	exon9			GGACGACGGCTGC	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1018G>A	X.37:g.153761190C>T	ENSP00000377194:p.Val340Ile	Somatic	271	1		WXS	Illumina GAIIx	Phase_I	473	163	NM_000402	0	0	11	11	0	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870278	0.33069	0.0	1.49E-4	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99803	-6.82;-6.82;-6.82	5.77	5.77	0.91146	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.201958	0.42172	D	0.000750	D	0.98429	0.9477	N	0.24115	0.695	0.20307	N	0.999917	B;B	0.25441	0.047;0.126	B;B	0.19391	0.025;0.015	D	0.92868	0.6312	10	0.11182	T	0.66	-31.3068	16.198	0.82043	0.0:1.0:0.0:0.0	.	340;370	P11413;P11413-3	G6PD_HUMAN;.	I	370;340;340;386	ENSP00000377192:V370I;ENSP00000377194:V340I;ENSP00000358633:V386I	ENSP00000291567:V340I	V	-	1	0	G6PD	153414384	0.982000	0.34865	0.008000	0.14137	0.002000	0.02628	3.617000	0.54181	2.428000	0.82296	0.509000	0.49947	GTC	.		0.647	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		T	153761190	C	T	153761190	3	4	47	1	0	0	0	0	1	0	0	0	6170	536	19	1	549	1	G6PD	23	153761190	Missense_Mutation	SNP	C	TCGA-OR-A5L9-01A-11D-A29I-10	51790172	153761190	1509370	92	9951											
CYP4B1	1580	bcgsc.ca	37	chr1	47279175	47279175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagtgggaagagaaagctCgggagggtaagtcctttgac	15	6	0	2	rs4646487	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr1:47279175C>T	ENST00000271153.4	+	5	553	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R10W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R158W|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R173W			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	173			R -> W (in allele CYP4B1*3 and allele CYP4B1*6; dbSNP:rs4646487). {ECO:0000269|PubMed:12142726, ECO:0000269|Ref.5}.		biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	AGAGAAAGCTCGGGAGGGTAA	0.572													C|||	924	0.184505	0.2027	0.1138	5008	,	,		21766	0.2123		0.1372	False		,,,				2504	0.2301				p.R173W		.											.	CYP4B1-92	0			c.C517T						.	C	TRP/ARG,TRP/ARG	821,3585	328.8+/-300.7	88,645,1470	118	111	113		517,517	0.8	0.2	1	dbSNP_111	113	1111,7489	231.5+/-265.5	82,947,3271	yes	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	101,101	170,1592,4741	TT,TC,CC		12.9186,18.6337,14.8547	possibly-damaging,possibly-damaging	173/512,173/513	47279175	1932,11074	2203	4300	6503	SO:0001583	missense	1580	exon5			AAAGCTCGGGAGG	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.517C>T	1.37:g.47279175C>T	ENSP00000271153:p.Arg173Trp	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	70	4	NM_000779	0	0	0	0	0	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	336	0.15384615384615385	94	0.1910569105691057	40	0.11049723756906077	99	0.17307692307692307	103	0.1358839050131926	C	14.12	2.440188	0.43326	0.186337	0.129186	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.21	0.775	0.18527	.	1.636210	0.03146	N	0.167299	T	0.00241	0.0007	L	0.42245	1.32	0.58432	P	5.000000000032756E-6	D;D;P;P	0.71674	0.991;0.998;0.813;0.844	B;P;P;P	0.56916	0.394;0.809;0.663;0.773	T	0.04065	-1.0980	9	0.72032	D	0.01	.	5.2973	0.15758	0.4946:0.3327:0.0:0.1727	rs4646487;rs57240062;rs4646487	10;158;173;173	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	W	173;173;158;10;10;10	ENSP00000360991:R173W;ENSP00000271153:R173W;ENSP00000360987:R158W;ENSP00000438995:R10W;ENSP00000400413:R10W;ENSP00000437670:R10W	ENSP00000271153:R173W	R	+	1	2	CYP4B1	47051762	0.081000	0.21417	0.237000	0.24090	0.063000	0.16089	0.723000	0.25939	0.168000	0.19655	0.591000	0.81541	CGG	C|0.839;T|0.161		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47279175	C	T	47279175	3	4	48	1	0	0	0	0	1	0	0	0	4194	875	31	1	535	1	CYP4B1	1	47279175	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10		47279175	201971446	1	9952											
IL12RB2	3595	bcgsc.ca	37	chr1	67852335	67852335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgggcattttctcaacGcattacttccagcaaaagtg	9	9	1	0	rs2228420	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr1:67852335G>A	ENST00000262345.1	+	14	2569	c.1929G>A	c.(1927-1929)acG>acA	p.T643T	IL12RB2_ENST00000541374.1_Silent_p.T643T|IL12RB2_ENST00000544434.1_Silent_p.T557T|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_Silent_p.T643T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	643					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTTTCTCAACGCATTACTTCC	0.428													G|||	2071	0.413538	0.1989	0.4697	5008	,	,		16651	0.3442		0.5845	False		,,,				2504	0.5593				p.T643T		.											.	IL12RB2-92	0			c.G1929A						.	G		1023,3383	377.8+/-322.6	127,769,1307	210	178	189		1929	-3.9	0	1	dbSNP_111	189	4908,3692	621.0+/-397.1	1405,2098,797	no	coding-synonymous	IL12RB2	NM_001559.2		1532,2867,2104	AA,AG,GG		42.9302,23.2183,45.602		643/863	67852335	5931,7075	2203	4300	6503	SO:0001819	synonymous_variant	3595	exon14			CTCAACGCATTAC	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.1929G>A	1.37:g.67852335G>A		Somatic	168	1		WXS	Illumina GAIIx	Phase_I	174	6	NM_001559	0	0	0	0	0	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	CCDS638.1																																																																																			A|0.433;G|0.567		0.428	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		A	67852335	G	A	67852335	2	1	48	1	0	0	0	0	0	0	0	1	7654	1074	38	1		1	IL12RB2	1	67852335	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	20573160	67852335	181398286	2	9953											
HMCN1	83872	ucsc.edu;bcgsc.ca	37	chr1	186031041	186031041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggccaatatacttgCgttgtaaggaatgcagctgg	13	7	0	0	rs7522627	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr1:186031041C>T	ENST00000271588.4	+	47	7600	c.7371C>T	c.(7369-7371)tgC>tgT	p.C2457C	HMCN1_ENST00000367492.2_Silent_p.C2457C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2457	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATATACTTGCGTTGTAAGGA	0.378													T|||	3277	0.654353	0.8495	0.647	5008	,	,		16476	0.5903		0.5348	False		,,,				2504	0.5849				p.C2457C		.											.	HMCN1-113	0			c.C7371T						.	T		3571,835	333.6+/-303.0	1454,663,86	124	136	132		7371	1.9	0.9	1	dbSNP_116	132	4602,3998	553.3+/-386.3	1252,2098,950	no	coding-synonymous	HMCN1	NM_031935.2		2706,2761,1036	TT,TC,CC		46.4884,18.9514,37.1598		2457/5636	186031041	8173,4833	2203	4300	6503	SO:0001819	synonymous_variant	83872	exon47			TACTTGCGTTGTA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7371C>T	1.37:g.186031041C>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			C|0.372;T|0.628		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186031041	C	T	186031041	2	4	48	1	0	0	0	0	0	0	0	1	7247	776	27	1		1	HMCN1	1	186031041	Silent	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	118178706	186031041	63219580	3	9954											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	48	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	14849937	200880978	48369643	4	9955											
FEZ2	9637	hgsc.bcm.edu	37	chr2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccaagctgcaggccGgggccgggaaaccgtcggcg	15	15	1	0	rs1544655	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr2:36825137G>A	ENST00000405912.3	-	1	148	c.149C>T	c.(148-150)cCg>cTg	p.P50L	FEZ2_ENST00000379245.4_Missense_Mutation_p.P50L	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	50			P -> L (in dbSNP:rs1544655). {ECO:0000269|PubMed:10931946}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTGCAGGCCGGGGCCGGGAA	0.761													A|||	4355	0.869609	0.9039	0.8372	5008	,	,		3879	0.9881		0.7435	False		,,,				2504	0.8538				p.P50L		.											.	FEZ2-23	0			c.C149T						.						2	3	3					2																	36825137		1191	2916	4107	SO:0001583	missense	9637	exon1			CAGGCCGGGGCCG	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.149C>T	2.37:g.36825137G>A	ENSP00000385112:p.Pro50Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001042548	0	0	0	2	2	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1789	0.8191391941391941	416	0.8455284552845529	284	0.7845303867403315	557	0.9737762237762237	532	0.7018469656992085	A	9.679	1.148856	0.21288	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.16897	2.31;2.31	3.93	3.93	0.45458	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00121	-2.07	0.09310	P	0.9999999999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32025	-0.9922	9	0.02654	T	1	-21.1042	7.5473	0.27775	0.8952:0.0:0.1048:0.0	rs1544655	50;50;50	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	L	50	ENSP00000368547:P50L;ENSP00000385112:P50L	ENSP00000368547:P50L	P	-	2	0	FEZ2	36678641	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	0.606000	0.24194	0.590000	0.29694	-0.775000	0.03384	CCG	T|0.817;C|0.180		0.761	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			A	36825137	G	A	36825137	3	1	48	1	0	0	0	0	1	0	0	0	5846	1116	39	1	1029	1	FEZ2	2	36825137	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		36825137	206374236	5	9956											
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	61463189	61463189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaatgaataaatgtctctAggacaaaggaagtgcttaac	9	5	1	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr2:61463189A>C	ENST00000398571.2	-	56	7014	c.6938T>G	c.(6937-6939)cTa>cGa	p.L2313R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2313					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)			AAATGTCTCTAGGACAAAGGA	0.244																																					p.L2313R		.											.	USP34-579	0			c.T6938G						.						48	45	46					2																	61463189		1796	4059	5855	SO:0001583	missense	9736	exon56			GTCTCTAGGACAA	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.6938T>G	2.37:g.61463189A>C	ENSP00000381577:p.Leu2313Arg	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	58	23	NM_014709	0	0	2	2	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561757	0.65538	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.04809	3.69;3.55	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.50333	1.59	0.58432	D	0.999998	D	0.60575	0.988	D	0.70935	0.971	T	0.00235	-1.1892	10	0.87932	D	0	.	10.7328	0.46107	0.9296:0.0:0.0704:0.0	.	2313	Q70CQ2	UBP34_HUMAN	R	2161;2161;2313;591	ENSP00000381577:L2313R;ENSP00000410559:L591R	ENSP00000263989:L2161R	L	-	2	0	USP34	61316693	1.000000	0.71417	0.996000	0.52242	0.712000	0.41017	6.361000	0.73070	2.285000	0.76669	0.533000	0.62120	CTA	.		0.244	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61463189	A	C	61463189	3	2	48	1	0	0	0	0	1	0	0	0	17114	420	15	5	3802	5	USP34	2	61463189	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	24638052	61463189	181736184	6	9957											
PRR21	643905	hgsc.bcm.edu	37	chr2	240982362	240982362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaagccgtggatgaagGgccgtggatgaagagctgtg	17	5	0	4	rs532390647|rs151246209	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr2:240982362G>A	ENST00000408934.1	-	1	37	c.38C>T	c.(37-39)cCc>cTc	p.P13L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	13								p.P13L(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						GTGGATGAAGGGCCGTGGATG	0.567																																					p.P13L		.											.	PRR21-70	2	Substitution - Missense(2)	lung(2)	c.C38T						.						88	75	80					2																	240982362		2196	4292	6488	SO:0001583	missense	643905	exon1			ATGAAGGGCCGTG	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.38C>T	2.37:g.240982362G>A	ENSP00000386166:p.Pro13Leu	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	107	9	NM_001080835	0	0	0	0	0		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	22	0.010073260073260074	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	18	0.023746701846965697	g	0.006	-2.070625	0.00379	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.41065	1.01;1.01	0.483	-0.803	0.10886	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.18561	0.022	T	0.18555	-1.0333	9	0.07175	T	0.84	.	4.4839	0.11780	0.3665:0.0:0.6335:0.0	.	13	Q8WXC7	PRR21_HUMAN	L	13	ENSP00000386166:P13L;ENSP00000418240:P13L	ENSP00000386166:P13L	P	-	2	0	PRR21	240631035	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.182000	0.09726	-0.423000	0.07394	-0.438000	0.05819	CCC	G|0.991;A|0.009		0.567	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982362	G	A	240982362	3	1	48	1	0	0	0	0	1	0	0	0	12634	1232	43	3	1134	3	PRR21	2	240982362	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	179519173	240982362	2217011	7	9958			1	49		2	2	28	N	G_C	6.366747e-05
PRR21	643905	hgsc.bcm.edu	37	chr2	240982389	240982389	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagagctgtggatgaaCaggcatgcatgtggccaagg	16	6	0	3	rs143417758		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr2:240982389C>G	ENST00000408934.1	-	1	10	c.11G>C	c.(10-12)tGt>tCt	p.C4S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	4										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGTGGATGAACAGGCATGCAT	0.567																																					p.C4S		.											.	PRR21-70	0			c.G11C						.						73	62	65					2																	240982389		2172	4269	6441	SO:0001583	missense	643905	exon1			GATGAACAGGCAT	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.11G>C	2.37:g.240982389C>G	ENSP00000386166:p.Cys4Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	86	5	NM_001080835	0	0	0	0	0		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	c	5.954	0.359922	0.11296	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.37752	1.18;1.18	0.149	0.149	0.14863	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.19945	N	0.999941	P	0.37500	0.597	B	0.39119	0.291	T	0.15435	-1.0437	8	0.42905	T	0.14	.	.	.	.	.	4	Q8WXC7	PRR21_HUMAN	S	4	ENSP00000386166:C4S;ENSP00000418240:C4S	ENSP00000386166:C4S	C	-	2	0	PRR21	240631062	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	-0.776000	0.04674	0.192000	0.20272	0.195000	0.17529	TGT	C|0.998;G|0.002		0.567	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982389	C	G	240982389	3	3	48	1	0	0	0	0	1	0	0	0	12634	478	17	3	1161	3	PRR21	2	240982389	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	27	240982389	2216984	8	9959			1	49		2	2	28	N	G_C	6.366747e-05
NUP210	23225	bcgsc.ca	37	chr3	13421150	13421150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacagccaccggccgggCtgggtctccttcggggcccg	15	16	1	1	rs7628051	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr3:13421150C>T	ENST00000254508.5	-	7	971	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	297			A -> T (in dbSNP:rs7628051).		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)					ACCGGCCGGGCTGGGTCTCCT	0.572													C|||	2589	0.516973	0.8215	0.4236	5008	,	,		15632	0.3323		0.5239	False		,,,				2504	0.3548				p.A297T		.											.	NUP210-256	0			c.G889A						.	C	THR/ALA	3338,1068	721.2+/-409.1	1265,808,130	44	45	45		889	3	0.1	3	dbSNP_116	45	4672,3928	601.7+/-394.4	1281,2110,909	yes	missense	NUP210	NM_024923.2	58	2546,2918,1039	TT,TC,CC		45.6744,24.2397,38.413	benign	297/1888	13421150	8010,4996	2203	4300	6503	SO:0001583	missense	23225	exon7			GCCGGGCTGGGTC	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.889G>A	3.37:g.13421150C>T	ENSP00000254508:p.Ala297Thr	Somatic	200	2		WXS	Illumina GAIIx	Phase_I	134	7	NM_024923	0	0	0	0	0	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	1153	0.5279304029304029	396	0.8048780487804879	161	0.4447513812154696	208	0.36363636363636365	388	0.5118733509234829	C	5.556	0.287518	0.10513	0.757603	0.543256	ENSG00000132182	ENST00000254508	T	0.05382	3.45	5.15	2.96	0.34315	.	0.781060	0.12576	N	0.456838	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.08186	-1.0734	9	0.18276	T	0.48	-21.9636	8.5655	0.33536	0.1293:0.7062:0.0:0.1645	rs7628051;rs17780361;rs56732558;rs7628051	297	Q8TEM1	PO210_HUMAN	T	297	ENSP00000254508:A297T	ENSP00000254508:A297T	A	-	1	0	NUP210	13396150	0.000000	0.05858	0.090000	0.20809	0.099000	0.18886	0.152000	0.16302	1.129000	0.42072	0.655000	0.94253	GCC	C|0.416;T|0.584		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		T	13421150	C	T	13421150	3	4	48	1	0	0	0	0	1	0	0	0	10799	797	28	3	4910	3	NUP210	3	13421150	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10		13421150	184601280	9	9960											
CCDC71	64925	ucsc.edu;bcgsc.ca	37	chr3	49200692	49200692	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttggccttagccttgaccTgtgctgccttggccttggcc	11	14	0	1	rs4955419	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr3:49200692T>A	ENST00000321895.6	-	2	1056	c.950A>T	c.(949-951)cAg>cTg	p.Q317L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	317			Q -> L (in dbSNP:rs4955419). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		agccttgacctgtgctgcctt	0.602													t|||	3560	0.710863	0.4501	0.7075	5008	,	,		19948	0.9395		0.6451	False		,,,				2504	0.8978				p.Q317L		.											.	CCDC71-91	0			c.A950T						.	T	LEU/GLN	2062,2344	565.1+/-381.6	493,1076,634	74	55	61		950	-7.5	0	3	dbSNP_111	61	5290,3310	643.7+/-400.0	1627,2036,637	yes	missense	CCDC71	NM_022903.3	113	2120,3112,1271	AA,AT,TT		38.4884,46.7998,43.4722	benign	317/468	49200692	7352,5654	2203	4300	6503	SO:0001583	missense	64925	exon2			TTGACCTGTGCTG	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.950A>T	3.37:g.49200692T>A	ENSP00000319006:p.Gln317Leu	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	31	4	NM_022903	0	0	15	15	0	Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	CCDS2790.1	1499	0.6863553113553114	225	0.4573170731707317	256	0.7071823204419889	531	0.9283216783216783	487	0.6424802110817942	t	0.011	-1.692078	0.00731	0.467998	0.615116	ENSG00000177352	ENST00000321895	T	0.29917	1.55	3.74	-7.48	0.01360	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.07424	-1.0773	8	0.30854	T	0.27	-26.304	8.1181	0.30955	0.2713:0.1197:0.0:0.609	rs4955419;rs17857064;rs52833521;rs57496183;rs4955419	317	Q8IV32	CCD71_HUMAN	L	317	ENSP00000319006:Q317L	ENSP00000319006:Q317L	Q	-	2	0	CCDC71	49175696	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.681000	0.00837	-3.298000	0.00193	-2.851000	0.00103	CAG	T|0.394;A|0.606		0.602	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		A	49200692	T	A	49200692	3	1	48	1	0	0	0	0	1	0	0	0	2851	1580	55	5	457	5	CCDC71	3	49200692	Missense_Mutation	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	35779542	49200692	148821738	10	9961											
ROBO1	6091	hgsc.bcm.edu;bcgsc.ca	37	chr3	78710311	78710311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacactgtttttggctggcGtcctcacttcaaaaactaac	6	13	2	0	rs201271022	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr3:78710311G>T	ENST00000464233.1	-	16	2302	c.2189C>A	c.(2188-2190)aCg>aAg	p.T730K	ROBO1_ENST00000467549.1_Missense_Mutation_p.T694K|ROBO1_ENST00000436010.2_Missense_Mutation_p.T691K|ROBO1_ENST00000495273.1_Missense_Mutation_p.T694K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	730	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGGCTGGCGTCCTCACTTC	0.413																																					p.T730K		.											.	ROBO1-67	0			c.C2189A						.						104	101	102					3																	78710311		1829	4096	5925	SO:0001583	missense	6091	exon16			GCTGGCGTCCTCA	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2189C>A	3.37:g.78710311G>T	ENSP00000420321:p.Thr730Lys	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_002941	0	0	0	0	0	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732886	0.69189	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.230857	0.51477	D	0.000082	T	0.60843	0.2300	L	0.36672	1.1	0.43246	D	0.995167	P;P;P;P;P;P	0.52463	0.761;0.909;0.953;0.927;0.909;0.823	B;P;P;P;P;B	0.58077	0.197;0.561;0.832;0.574;0.561;0.425	T	0.55704	-0.8099	9	.	.	.	.	19.3897	0.94576	0.0:0.0:1.0:0.0	.	694;694;730;694;694;691	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	691;694;730;694;694;734	ENSP00000406043:T691K;ENSP00000420321:T730K;ENSP00000420637:T694K;ENSP00000417992:T694K	.	T	-	2	0	ROBO1	78793001	1.000000	0.71417	0.969000	0.41365	0.763000	0.43281	6.688000	0.74557	2.576000	0.86940	0.561000	0.74099	ACG	.		0.413	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78710311	G	T	78710311	3	4	48	1	0	0	0	0	1	0	0	0	13558	1145	40	2	2830	2	ROBO1	3	78710311	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	29509619	78710311	119312119	11	9962											
OPA1	4976	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	193380667	193380667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaaatgtaatgaggaGcacccagcttatcttgcaag	10	7	1	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr3:193380667G>T	ENST00000392438.3	+	24	2646	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D	OPA1_ENST00000361828.2_Missense_Mutation_p.E822D|OPA1_ENST00000361510.2_Missense_Mutation_p.E859D|OPA1_ENST00000361150.2_Missense_Mutation_p.E805D|OPA1_ENST00000361908.3_Missense_Mutation_p.E841D|OPA1_ENST00000361715.2_Missense_Mutation_p.E823D	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	804					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)		GTAATGAGGAGCACCCAGCTT	0.373																																					p.E859D		.											.	OPA1-68	0			c.G2577T						.						94	88	90					3																	193380667		2203	4300	6503	SO:0001583	missense	4976	exon26			TGAGGAGCACCCA	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.2412G>T	3.37:g.193380667G>T	ENSP00000376233:p.Glu804Asp	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	162	82	NM_130837	0	0	0	4	4	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283477	0.23392	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95103	-3.2;-3.19;-3.21;-3.2;-3.2;-3.61	5.75	-2.79	0.05841	.	0.092678	0.85682	D	0.000000	T	0.81235	0.4780	N	0.03324	-0.35	0.33224	D	0.554999	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.001;0.001;0.001	T	0.67688	-0.5606	10	0.26408	T	0.33	-20.7859	7.4408	0.27181	0.5707:0.0:0.2444:0.1848	.	768;804;786;805;822;841;823;859	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	D	841;804;859;823;822;805	ENSP00000354681:E841D;ENSP00000376233:E804D;ENSP00000355324:E859D;ENSP00000355311:E823D;ENSP00000354429:E822D;ENSP00000354781:E805D	ENSP00000354781:E805D	E	+	3	2	OPA1	194863361	0.000000	0.05858	0.944000	0.38274	0.978000	0.69477	-1.698000	0.01908	-0.698000	0.05085	-0.150000	0.13652	GAG	.		0.373	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		T	193380667	G	T	193380667	3	4	48	1	0	0	0	0	1	0	0	0	10910	962	34	3	2679	3	OPA1	3	193380667	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	114670356	193380667	4641763	12	9963											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	100	8	NM_175918	0	0	10	16	6	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	48	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10		1388974	189765302	13	9964											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	48	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	47103460	48492434	142661842	14	9965											
AMBN	258	hgsc.bcm.edu	37	chr4	71462749	71462749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctggaacaccgggtatgGctagtttgagccttgaggta	13	7	1	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr4:71462749G>T	ENST00000322937.6	+	3	221	c.118G>T	c.(118-120)Gct>Tct	p.A40S	AMBN_ENST00000449493.2_Missense_Mutation_p.A40S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	40					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACCGGGTATGGCTAGTTTGAG	0.358																																					p.A40S		.											.	AMBN-94	0			c.G118T						.						111	112	112					4																	71462749		2203	4300	6503	SO:0001583	missense	258	exon3			GGTATGGCTAGTT	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.118G>T	4.37:g.71462749G>T	ENSP00000313809:p.Ala40Ser	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_016519	0	0	0	0	0	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424521	0.83667	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.41065	1.01;1.01	5.43	5.43	0.79202	.	0.169682	0.40064	N	0.001197	T	0.60301	0.2258	M	0.62723	1.935	0.43874	D	0.996481	D	0.71674	0.998	D	0.65573	0.936	T	0.61987	-0.6949	10	0.72032	D	0.01	-13.0876	15.0885	0.72174	0.0:0.0:1.0:0.0	.	40	Q9NP70	AMBN_HUMAN	S	40	ENSP00000313809:A40S;ENSP00000391234:A40S	ENSP00000313809:A40S	A	+	1	0	AMBN	71497338	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.746000	0.62133	2.699000	0.92147	0.655000	0.94253	GCT	.		0.358	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		T	71462749	G	T	71462749	3	4	48	1	0	0	0	0	1	0	0	0	563	1203	42	3	128	3	AMBN	4	71462749	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	22970315	71462749	119691527	15	9966											
FAM170A	340069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccaggctcacccaccGttgaggacacacccagagcc	10	18	1	2	rs369994686		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr5:118970068G>A	ENST00000515256.1	+	3	797	c.625G>A	c.(625-627)Gtt>Att	p.V209I				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	209					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587													G|||	1	0.000199681	0	0	5008	,	,		20392	0.001		0	False		,,,				2504	0				p.V209I		.											.	FAM170A-91	0			c.G625A						.	G	ILE/VAL,ILE/VAL	1,4209		0,1,2104	91	99	96		625,484	1.5	0	5		96	0,8466		0,0,4233	no	missense,missense	FAM170A	NM_182761.3,NM_001163991.1	29,29	0,1,6337	AA,AG,GG		0.0,0.0238,0.0079	benign,benign	209/330,162/283	118970068	1,12675	2105	4233	6338	SO:0001583	missense	340069	exon3			CCCACCGTTGAGG	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.625G>A	5.37:g.118970068G>A	ENSP00000422684:p.Val209Ile	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	115	44	NM_182761	0	0	0	0	0	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553828	0.03996	2.38E-4	0.0	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.35789	1.29	4.35	1.49	0.22878	.	0.963086	0.08539	N	0.930926	T	0.34513	0.0900	M	0.64997	1.995	0.09310	N	1	B;B	0.25007	0.086;0.116	B;B	0.15484	0.008;0.013	T	0.25710	-1.0124	9	.	.	.	-3.1073	10.1819	0.42972	0.0:0.0:0.4686:0.5314	.	162;209	D6RIE9;A1A519	.;F170A_HUMAN	I	162;209	ENSP00000422684:V209I	.	V	+	1	0	FAM170A	118997967	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	0.320000	0.23234	-0.181000	0.13052	GTT	.		0.587	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		A	118970068	G	A	118970068	3	1	48	1	0	0	0	0	1	0	0	0	5508	1145	40	1	635	1	FAM170A	5	118970068	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		118970068	61945192	16	9967											
AARS2	202500	bcgsc.ca	37	chr6	44268371	44268371	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttgggccaccactcgTgagccccacgccttgccccc	10	20	0	1	rs325008	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr6:44268371T>C	ENST00000371505.4	-	0	0				TCTE1_ENST00000371503.3_5'Flank|AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000244571.4_Silent_p.S957S	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACCACTCGTGAGCCCCACG	0.627													C|||	4354	0.869409	0.5976	0.9496	5008	,	,		19229	0.998		0.9612	False		,,,				2504	0.953				p.S957S		.											.	AARS2-91	0			c.A2871G						.	C		3022,1384	457.1+/-351.5	1045,932,226	83	71	75		2871	-8.7	0	6	dbSNP_79	75	8308,292	107.4+/-168.2	4010,288,2	no	coding-synonymous	AARS2	NM_020745.2		5055,1220,228	CC,CT,TT		3.3953,31.4117,12.8864		957/986	44268371	11330,1676	2203	4300	6503	SO:0001631	upstream_gene_variant	57505	exon22			CACTCGTGAGCCC	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763		6.37:g.44268371T>C	Exception_encountered	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	76	4	NM_020745	0	0	2	2	0	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																			T|0.130;C|0.870		0.627	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		C	44268371	T	C	44268371	1	2	48	0	1	0	0	0	0	0	0	0	20	1683	59	4		4	AARS2	6	44268371	5'Flank	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10		44268371	126846696	17	9968											
FAM26F	441168	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr6	116783563	116783563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggtgccgtgcaaccaGgccaaggcgtcggacgtgca	15	14	0	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr6:116783563G>A	ENST00000368605.1	+	2	566	c.471G>A	c.(469-471)caG>caA	p.Q157Q	FAM26F_ENST00000368606.3_Intron|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	157					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CGTGCAACCAGGCCAAGGCGT	0.726																																					p.G157G		.											.	FAM26F-68	0			c.A471A						.						3	2	2					6																	116783563		958	1330	2288	SO:0001819	synonymous_variant	441168	exon2			CAACCAGGCCAAG	AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.471G>A	6.37:g.116783563G>A		Somatic	14	0		WXS	Illumina GAIIx	Phase_I	24	15	NM_001010919	0	0	1	1	0	B9EJB0|Q5R3K4	Silent	SNP	ENST00000368605.1	37	CCDS34519.1																																																																																			.		0.726	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116783563	G	A	116783563	2	1	48	1	0	0	0	0	0	0	0	1	5573	991	35	3		3	FAM26F	6	116783563	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	72515192	116783563	54331504	18	9969											
MAP7	9053	hgsc.bcm.edu	37	chr6	136682172	136682172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctctgcctcctcccGctcgcgcagcgcccgctcct	11	22	1	0	rs2076190	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr6:136682172G>A	ENST00000354570.3	-	12	2082	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	MAP7_ENST00000454590.1_Missense_Mutation_p.R580W|MAP7_ENST00000438100.2_Missense_Mutation_p.R543W|MAP7_ENST00000432797.2_Missense_Mutation_p.R412W|MAP7_ENST00000544465.1_Missense_Mutation_p.R543W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	558			R -> W (in dbSNP:rs2076190). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCCTCCTCCCGCTCGCGCAGC	0.761													G|||	3864	0.771565	0.7156	0.8026	5008	,	,		9294	0.6736		0.8459	False		,,,				2504	0.8497				p.R588W		.											.	MAP7-90	0			c.C1762T						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	3211,1131		1187,837,147	7	8	8		1738,1762,1627,1738,1627,1561,1390,1234,1234,1672	2.8	1	6	dbSNP_96	8	7130,1264		3035,1060,102	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	101,101,101,101,101,101,101,101,101,101	4222,1897,249	AA,AG,GG		15.0584,26.0479,18.805	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	580/772,588/780,543/735,580/772,543/735,521/713,464/656,412/604,412/604,558/750	136682172	10341,2395	2171	4197	6368	SO:0001583	missense	9053	exon12			CCTCCCGCTCGCG	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1672C>T	6.37:g.136682172G>A	ENSP00000346581:p.Arg558Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001198609	0	0	0	0	0	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	1644	0.7527472527472527	337	0.6849593495934959	282	0.7790055248618785	382	0.6678321678321678	643	0.8482849604221636	G	14.45	2.539239	0.45176	0.739521	0.849416	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.89	2.78	0.32641	.	0.296091	0.22491	N	0.059376	T	0.35189	0.0923	M	0.82517	2.595	0.26264	P	0.9785292	D;D;D;D;D;D	0.76494	0.995;0.994;0.995;0.999;0.998;0.998	P;P;P;P;P;P	0.60886	0.751;0.636;0.751;0.809;0.809;0.88	T	0.38779	-0.9645	9	0.52906	T	0.07	-5.3629	10.9226	0.47174	0.0:0.0:0.3457:0.6543	rs2076190;rs2230172;rs6928528	543;543;580;464;521;558	B7Z290;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;MAP7_HUMAN	W	558;580;543;543;412;464	ENSP00000346581:R558W;ENSP00000414712:R580W;ENSP00000445737:R543W;ENSP00000400790:R543W;ENSP00000414879:R412W	ENSP00000344217:R464W	R	-	1	2	MAP7	136723865	0.441000	0.25626	0.960000	0.40013	0.620000	0.37586	1.543000	0.36147	0.988000	0.38734	0.555000	0.69702	CGG	G|0.243;A|0.757		0.761	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		A	136682172	G	A	136682172	3	1	48	1	0	0	0	0	1	0	0	0	9304	1086	38	1	605	1	MAP7	6	136682172	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	19898609	136682172	34432895	19	9970											
SYNE1	23345	ucsc.edu	37	chr6	152469513	152469513	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtgctcatcgtctgggaGctagaagggaagtcaaggca	15	8	3	1			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr6:152469513G>A	ENST00000367255.5	-	137	25244	c.24643C>T	c.(24643-24645)Ctc>Ttc	p.L8215F	SYNE1_ENST00000448038.1_Splice_Site_p.L8144F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Splice_Site_p.L370F|SYNE1_ENST00000423061.1_Splice_Site_p.L8144F|SYNE1_ENST00000354674.4_Splice_Site_p.L370F|SYNE1_ENST00000341594.5_Splice_Site_p.L7827F|SYNE1_ENST00000265368.4_Splice_Site_p.L8215F|SYNE1_ENST00000356820.4_Splice_Site_p.L2739F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8215					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)		TCGTCTGGGAGCTAGAAGGGA	0.547										HNSCC(10;0.0054)																											p.L8215F		.											.	SYNE1-607	0			c.C24643T						.						36	37	37					6																	152469513		2203	4300	6503	SO:0001630	splice_region_variant	23345	exon137			CTGGGAGCTAGAA	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.24643-1C>T	6.37:g.152469513G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_182961	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869636	0.72065	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.59083	0.35;4.49;1.3;0.41;0.29;0.41;0.5;2.37;1.52;4.5	5.4	4.52	0.55395	.	0.151051	0.30011	N	0.010635	T	0.71821	0.3385	M	0.82517	2.595	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.723	D;D;D;D;B	0.79108	0.983;0.983;0.992;0.983;0.274	T	0.75631	-0.3251	10	0.66056	D	0.02	.	13.517	0.61545	0.075:0.0:0.925:0.0	.	8215;8215;8144;8144;417	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8215;370;861;8144;8215;8144;7827;2739;377;372;1137;370	ENSP00000356224:L8215F;ENSP00000441052:L370F;ENSP00000356226:L861F;ENSP00000396024:L8144F;ENSP00000265368:L8215F;ENSP00000390975:L8144F;ENSP00000341887:L7827F;ENSP00000349276:L2739F;ENSP00000356220:L1137F;ENSP00000346701:L370F	ENSP00000265368:L8215F	L	-	1	0	SYNE1	152511206	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	5.233000	0.65337	2.530000	0.85305	0.655000	0.94253	CTC	.		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	A	152469513	G	A	152469513	5	1	48	1	0	0	0	0	0	0	1	0	15492	985	34	3	1863	3	SYNE1	6	152469513	Splice_Site	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	15787341	152469513	18645554	20	9971											
GET4	51608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	930643	930643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacatgctggtggagtAttccacgtcccgcggcttcc	11	14	0	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr7:930643A>G	ENST00000265857.3	+	5	639	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	GET4_ENST00000407192.1_Missense_Mutation_p.Y129C	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	182					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGTGGAGTATTCCACGTCC	0.552																																					p.Y182C		.											.	GET4-90	0			c.A545G						.						133	115	121					7																	930643		2203	4300	6503	SO:0001583	missense	51608	exon5			TGGAGTATTCCAC	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.545A>G	7.37:g.930643A>G	ENSP00000265857:p.Tyr182Cys	Somatic	221	0		WXS	Illumina GAIIx	Phase_I	254	71	NM_015949	0	0	67	116	49	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	a	21.5	4.157164	0.78114	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000426056	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.70139	-0.4954	9	0.59425	D	0.04	-37.7166	14.8892	0.70594	1.0:0.0:0.0:0.0	.	182	Q7L5D6	GET4_HUMAN	C	182;136;129;143	.	ENSP00000265857:Y182C	Y	+	2	0	GET4	897169	1.000000	0.71417	0.995000	0.50966	0.554000	0.35429	8.927000	0.92846	1.940000	0.56252	0.398000	0.26397	TAT	.		0.552	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		G	930643	A	G	930643	3	3	48	1	0	0	0	0	1	0	0	0	6362	449	16	4	563	4	GET4	7	930643	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10		930643	158208020	21	9972											
KIAA0415	9907	broad.mit.edu	37	chr7	4827402	4827402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcggtgctggacctgcaGctcaggtgggcccctcaccc	14	16	2	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr7:4827402G>T	ENST00000348624.4	+	11	1543	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.Q483H	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	483					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGACCTGCAGCTCAGGTGGG	0.706																																					p.Q483H		.											.	.	0			c.G1449T						.						14	18	17					7																	4827402		1984	3947	5931	SO:0001583	missense	9907	exon11			CCTGCAGCTCAGG	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1449G>T	7.37:g.4827402G>T	ENSP00000297562:p.Gln483His	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	87	8	NM_014855	0	0	0	0	0	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854221	0.32791	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.48836	0.81;0.8	4.73	2.77	0.32553	.	0.129357	0.52532	D	0.000063	T	0.45518	0.1346	M	0.82323	2.585	0.48135	D	0.999592	B	0.25609	0.13	B	0.21708	0.036	T	0.49943	-0.8885	10	0.56958	D	0.05	.	4.7521	0.13066	0.0852:0.1506:0.609:0.1552	.	483	O43299	K0415_HUMAN	H	483	ENSP00000297562:Q483H;ENSP00000384980:Q483H	ENSP00000297562:Q483H	Q	+	3	2	KIAA0415	4793928	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.161000	0.42358	1.108000	0.41662	0.549000	0.68633	CAG	.		0.706	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4827402	G	T	4827402	3	4	48	1	0	0	0	0	1	0	0	0	8202	962	34	3	1491	3	KIAA0415	7	4827402	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	3896759	4827402	154311261	22	9973											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5352665	5352665	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaTgaggaggaggaggaggaggc	26	1	0	1			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr7:5352665T>G	ENST00000430969.1	-	27	8205	c.7857A>C	c.(7855-7857)tcA>tcC	p.S2619S	TNRC18_ENST00000399537.4_Silent_p.S2619S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2619	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)		aggaggaggatgaggaggagg	0.657																																					p.S2619S		.											.	TNRC18-46	0			c.A7857C						.						5	8	7					7																	5352665		1381	3160	4541	SO:0001819	synonymous_variant	84629	exon27			GGAGGATGAGGAG	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.7857A>C	7.37:g.5352665T>G		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_001080495	2	0	0	7	5	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																			.		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5352665	T	G	5352665	2	3	48	1	0	0	0	0	0	0	0	1	16386	1451	51	5		5	TNRC18	7	5352665	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	525263	5352665	153785998	23	9974											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	48	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	19741	5372406	153766257	24	9975											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	48	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		8560536	137803486	25	9976											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	48	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5LA-01A-11D-A29I-10	111660240	120220776	26143246	26	9977											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_030895	0	0	0	1	1	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	48	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	24158092	144378868	1985154	27	9978											
PLEC	5339	hgsc.bcm.edu	37	chr8	144998190	144998190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgctgcctcgcAgcctccagctcggcctgctc	11	20	0	0	rs2857829	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000356346.3_Silent_p.A1955A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7	8	8		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	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.6318T>C	8.37:g.144998190A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_201380	0	0	0	4	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144998190	A	G	144998190	2	3	48	1	0	0	0	0	0	0	0	1	12091	175	7	4		4	PLEC	8	144998190	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	619322	144998190	1365832	28	9979			2	50		3	3	3595	N	C_A	3.570163e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	48	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	3398	145001588	1362434	29	9980			2	50		3	3	3595	N	C_A	3.570163e-05
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000356346.3_Silent_p.L1170L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_201380	0	0	0	1	1	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	48	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	196	145001784	1362238	30	9981			2	50		3	3	3595	N	C_A	3.570163e-05
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_213605	0	0	0	2	2		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	48	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	1031563	146033347	330675	31	9982											
TMEM2	23670	broad.mit.edu	37	chr9	74300311	74300312	+	Splice_Site	INS	-	-	AA													ccaaaaatatggtactccctINSaaaaaaaaaaaaaaaaaaga					rs36080695|rs72019397		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr9:74300311_74300312insAA	ENST00000377044.4	-	24	4495		c.e24-2		TMEM2_ENST00000396272.3_Splice_Site|TMEM2_ENST00000377066.5_Splice_Site	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2						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)		TGGTACTCCCTaaaaaaaaaaa	0.371																																					.		.											.	TMEM2-92	0			c.3767-2->TT						.																																			SO:0001630	splice_region_variant	23670	exon24			ACTCCCTAAAAAA		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.3956-2->TT	9.37:g.74300320_74300321dupAA		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	7	2	NM_001135820	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Splice_Site	INS	ENST00000377044.4	37	CCDS6638.1																																																																																			A|1.000;|0.000		0.371	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	Intron	AA	74300312	-	AA	74300311	8	5	48	1	0	1	1	0	0	0	1	0	16168	1536	53	0	201	0	TMEM2	9	74300311	Splice_Site	INS	-	TCGA-OR-A5LA-01A-11D-A29I-10		74300311	66913120	32	9983											
SURF6	6838	hgsc.bcm.edu	37	chr9	136198859	136198859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctccaccacgccggccGtgcgcttctcccaccggcgc	9	21	3	0	rs1800867	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr9:136198859G>A	ENST00000372022.4	-	5	1197	c.932C>T	c.(931-933)aCg>aTg	p.T311M	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	311			T -> M (in dbSNP:rs1800867).		ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CACGCCGGCCGTGCGCTTCTC	0.721													G|||	39	0.00778754	0.0023	0.0101	5008	,	,		14630	0		0.0199	False		,,,				2504	0.0092				p.T311M		.											.	SURF6-91	0			c.C932T						.	G	MET/THR	11,4393		0,11,2191	20	20	20		932	4.2	1	9	dbSNP_89	20	174,8422		0,174,4124	no	missense	SURF6	NM_006753.4	81	0,185,6315	AA,AG,GG		2.0242,0.2498,1.4231	probably-damaging	311/362	136198859	185,12815	2202	4298	6500	SO:0001583	missense	6838	exon5			CCGGCCGTGCGCT	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.932C>T	9.37:g.136198859G>A	ENSP00000361092:p.Thr311Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	27	16	NM_006753	0	0	0	10	10	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	CCDS6962.1	22	0.010073260073260074	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	16	0.021108179419525065	G	18.74	3.689452	0.68271	0.002498	0.020242	ENSG00000148296	ENST00000372022	T	0.14391	2.51	5.15	4.21	0.49690	.	0.290937	0.35870	N	0.002935	T	0.15349	0.0370	L	0.52573	1.65	0.39677	D	0.970848	D	0.89917	1.0	D	0.65773	0.938	T	0.00719	-1.1595	10	0.46703	T	0.11	-4.2132	14.1324	0.65263	0.0:0.0:0.8497:0.1503	rs1800867	311	O75683	SURF6_HUMAN	M	311	ENSP00000361092:T311M	ENSP00000361092:T311M	T	-	2	0	SURF6	135188680	1.000000	0.71417	0.954000	0.39281	0.706000	0.40770	4.384000	0.59607	2.387000	0.81309	0.467000	0.42956	ACG	G|0.988;A|0.012		0.721	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		A	136198859	G	A	136198859	3	1	48	1	0	0	0	0	1	0	0	0	15453	1145	40	1	157	1	SURF6	9	136198859	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	61898548	136198859	5014572	33	9984											
C10orf47	254427	hgsc.bcm.edu	37	chr10	11912332	11912332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcaccgtgcagttcgCgggccgcggctcctcggagg	17	14	1	0	rs12253554	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:11912332C>T	ENST00000277570.5	+	4	1389	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	PROSER2_ENST00000379200.1_Missense_Mutation_p.A216V|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	412			A -> V (in dbSNP:rs12253554). {ECO:0000269|PubMed:15489334}.														GTGCAGTTCGCGGGCCGCGGC	0.771													C|||	358	0.0714856	0.0946	0.0476	5008	,	,		9233	0.001		0.0775	False		,,,				2504	0.1237				p.A412V		.											.	.	0			c.C1235T						.	C	VAL/ALA	112,1534		0,112,711	1	1	1		1235	5.3	0.9	10	dbSNP_120	1	187,3499		0,187,1656	no	missense	C10orf47	NM_153256.3	64	0,299,2367	TT,TC,CC		5.0733,6.8044,5.6077	possibly-damaging	412/436	11912332	299,5033	823	1843	2666	SO:0001583	missense	254427	exon4			AGTTCGCGGGCCG	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.1235C>T	10.37:g.11912332C>T	ENSP00000277570:p.Ala412Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_153256	0	0	0	0	0	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	CCDS7085.1	143	0.06547619047619048	60	0.12195121951219512	22	0.06077348066298342	1	0.0017482517482517483	60	0.079155672823219	C	22.4	4.285312	0.80803	0.068044	0.050733	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202;ENST00000379200	T;T	0.08984	3.03;3.03	5.3	5.3	0.74995	.	0.302100	0.28895	N	0.013796	T	0.00178	0.0005	L	0.29908	0.895	0.35518	P	0.19877100000000003	D	0.62365	0.991	P	0.47044	0.535	T	0.17531	-1.0366	9	0.87932	D	0	-13.0271	17.9268	0.88986	0.0:1.0:0.0:0.0	rs12253554;rs17851504	412	Q86WR7	CJ047_HUMAN	V	318;412;319;216	ENSP00000277570:A412V;ENSP00000368498:A216V	ENSP00000277570:A412V	A	+	2	0	C10orf47	11952338	0.998000	0.40836	0.879000	0.34478	0.186000	0.23388	4.734000	0.62043	2.476000	0.83614	0.313000	0.20887	GCG	C|0.935;T|0.065		0.771	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		T	11912332	C	T	11912332	3	4	48	1	0	0	0	0	1	0	0	0	1610	768	27	1	1245	1	C10orf47	10	11912332	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10		11912332	123622415	34	9985											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	19	9	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	48	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	35087885	47000217	88534530	35	9986											
AGAP11	119385	broad.mit.edu;bcgsc.ca	37	chr10	88768599	88768599	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcgcacccatctccagctCtaaaagcaatggcctatcca	6	16	2	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:88768599C>T	ENST00000444431.1	+	0	3199				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ATCTCCAGCTCTAAAAGCAAT	0.498																																					p.S197F		.											.	.	0			c.C590T						.						86	95	92					10																	88768599		2203	4300	6503			119385	exon12			CCAGCTCTAAAAG			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768599C>T		Somatic	670	0		WXS	Illumina GAIIx	Phase_I	586	24	NM_133447	0	0	10	10	0	B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37																																																																																				.		0.498	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		T	88768599	C	T	88768599	1	4	48	0	1	0	0	0	0	0	0	0	367	913	32	3		3	AGAP11	10	88768599	RNA	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	41768382	88768599	46766148	36	9987											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001077494	0	0	0	2	2	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	48	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	15390597	104159196	31375551	37	9988											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000148	135000148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaattccagaaggagcTaggcagctggaaagtgcagc	15	7	0	2	rs3810965	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368572.2_Silent_p.A432A|KNDC1_ENST00000368571.2_Silent_p.A367A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595				p.A432A		.											.	KNDC1-229	0			c.T1296C						.			719,3683		63,593,1545	26	32	30		1296	-4.2	0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442	exon6			AGGAGCTAGGCAG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1296T>C	10.37:g.135000148T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_152643	0	0	0	1	1	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.607;C|0.393		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135000148	T	C	135000148	2	2	48	1	0	0	0	0	0	0	0	1	8453	1509	53	4		4	KNDC1	10	135000148	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	30840952	135000148	534599	38	9989			3	51		2	2	12	N	T_A	2.593909e-05
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctaggcagctggAaagtgcagccgcggagcagg	18	8	0	1	rs3810964	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr10:135000159A>G	ENST00000304613.3	+	6	1328	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	KNDC1_ENST00000368572.2_Missense_Mutation_p.E436G|KNDC1_ENST00000368571.2_Missense_Mutation_p.E371G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	436			E -> G (in dbSNP:rs3810964). {ECO:0000269|Ref.1}.		cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGCTGGAAAGTGCAGCC	0.652													a|||	2088	0.416933	0.118	0.3847	5008	,	,		14228	0.5774		0.4354	False		,,,				2504	0.6595				p.E436G		.											.	KNDC1-229	0			c.A1307G						.		GLY/GLU	699,3701		65,569,1566	23	28	26		1307	-5.9	0	10	dbSNP_107	26	3934,4658		927,2080,1289	yes	missense	KNDC1	NM_152643.6	98	992,2649,2855	GG,GA,AA		45.7868,15.8864,35.6604	benign	436/1750	135000159	4633,8359	2200	4296	6496	SO:0001583	missense	85442	exon6			AGCTGGAAAGTGC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1307A>G	10.37:g.135000159A>G	ENSP00000304437:p.Glu436Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	871	0.39880952380952384	52	0.10569105691056911	135	0.3729281767955801	338	0.5909090909090909	346	0.45646437994722955	A	6.455	0.452036	0.12283	0.158864	0.457868	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.28895	1.59;1.59;1.59	3.02	-5.95	0.02241	.	0.946911	0.08625	N	0.917834	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	9	0.09843	T	0.71	-2.0863	2.4481	0.04511	0.2095:0.4457:0.2064:0.1384	rs3810964;rs58651584;rs3810964	371;436	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	G	436;436;371	ENSP00000304437:E436G;ENSP00000357561:E436G;ENSP00000357560:E371G	ENSP00000304437:E436G	E	+	2	0	KNDC1	134850149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.198000	0.02669	-1.676000	0.00740	GAA	A|0.608;G|0.392		0.652	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		G	135000159	A	G	135000159	3	3	48	1	0	0	0	0	1	0	0	0	8453	246	9	4	1329	4	KNDC1	10	135000159	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	11	135000159	534588	39	9990			3	51		2	2	12	N	T_A	2.593909e-05
MUC6	4588	broad.mit.edu	37	chr11	1027716	1027716	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acactgcttctccagccccaGagcaggacgccccgcaagga	10	17	1	1			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr11:1027716G>T	ENST00000421673.2	-	16	2000	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	650					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)		TCCAGCCCCAGAGCAGGACGC	0.667																																					p.L650L		.											.	MUC6-23	0			c.C1950A						.						23	28	26					11																	1027716		2091	4211	6302	SO:0001819	synonymous_variant	4588	exon16			GCCCCAGAGCAGG	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.1950C>A	11.37:g.1027716G>T		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	78	3	NM_005961	0	0	0	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																			.		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1027716	G	T	1027716	2	4	48	1	0	0	0	0	0	0	0	1	10018	929	33	3		3	MUC6	11	1027716	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		1027716	133978800	40	9991											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	90	7	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	48	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	226264	1253980	133752536	41	9992											
OR9G4	283189	bcgsc.ca	37	chr11	56510623	56510623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagaatgctggagagtActgtgaagcccaccacacca	10	11	0	3	rs513873	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr11:56510623A>G	ENST00000302957.3	-	1	664	c.665T>C	c.(664-666)gTa>gCa	p.V222A		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	222			V -> A (in dbSNP:rs513873).			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)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGGAGAGTACTGTGAAGCC	0.468													A|||	945	0.188698	0.2163	0.1599	5008	,	,		21139	0.0853		0.2992	False		,,,				2504	0.1646				p.V222A		.											.	OR9G4-71	0			c.T665C						.	A	ALA/VAL	1052,3350	384.7+/-325.4	118,816,1267	101	92	95		665	5.1	1	11	dbSNP_83	95	2745,5847	436.3+/-358.3	444,1857,1995	yes	missense	OR9G4	NM_001005284.1	64	562,2673,3262	GG,GA,AA		31.9483,23.8982,29.2212	possibly-damaging	222/328	56510623	3797,9197	2201	4296	6497	SO:0001583	missense	283189	exon1			GAGAGTACTGTGA	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.665T>C	11.37:g.56510623A>G	ENSP00000307515:p.Val222Ala	Somatic	118	1		WXS	Illumina GAIIx	Phase_I	118	7	NM_001005284	0	0	0	0	0	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	445	0.20375457875457875	112	0.22764227642276422	54	0.14917127071823205	46	0.08041958041958042	233	0.3073878627968338	A	14.16	2.452759	0.43531	0.238982	0.319483	ENSG00000172457	ENST00000302957	T	0.38077	1.16	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	N	0.002985	T	0.00012	0.0000	L	0.35542	1.07	0.33213	P	0.44635800000000003	D	0.76494	0.999	D	0.80764	0.994	T	0.32188	-0.9916	9	0.19590	T	0.45	-48.116	13.8217	0.63325	1.0:0.0:0.0:0.0	rs513873;rs52807984;rs60956810;rs513873	222	Q8NGQ1	OR9G4_HUMAN	A	222	ENSP00000307515:V222A	ENSP00000307515:V222A	V	-	2	0	OR9G4	56267199	0.047000	0.20315	0.991000	0.47740	0.912000	0.54170	3.072000	0.50049	2.131000	0.65755	0.523000	0.50628	GTA	A|0.748;G|0.252		0.468	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		G	56510623	A	G	56510623	3	3	48	1	0	0	0	0	1	0	0	0	11290	391	14	4	321	4	OR9G4	11	56510623	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	55256643	56510623	78495893	42	9993											
USP35	57558	broad.mit.edu	37	chr11	77920714	77920714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccttccctcctcctgagCgctgtcgccgccgccgcctg	10	21	0	1	rs564233462		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr11:77920714C>T	ENST00000529308.1	+	10	2074	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.R336C|USP35_ENST00000441408.2_Missense_Mutation_p.R191C|USP35_ENST00000530267.1_Missense_Mutation_p.R173C	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	605	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)			TCCTCCTGAGCGCTGTCGCCG	0.657													c|||	1	0.000199681	8e-04	0	5008	,	,		16164	0		0	False		,,,				2504	0				p.R605C		.											.	USP35-637	0			c.C1813T						.						49	55	53					11																	77920714		2017	4157	6174	SO:0001583	missense	57558	exon10			CCTGAGCGCTGTC	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.1813C>T	11.37:g.77920714C>T	ENSP00000431876:p.Arg605Cys	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	81	4	NM_020798	0	0	0	0	0		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.438578	0.43326	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.13307	3.17;3.42;2.6;3.3	4.89	2.83	0.33086	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.427068	0.17866	N	0.159376	T	0.15565	0.0375	M	0.75085	2.285	0.37494	D	0.916499	B;B	0.14805	0.004;0.011	B;B	0.10450	0.005;0.005	T	0.05550	-1.0878	10	0.59425	D	0.04	-17.885	4.7475	0.13045	0.1751:0.624:0.0:0.201	.	605;191	Q9P2H5;E7EWV7	UBP35_HUMAN;.	C	173;605;191;336	ENSP00000435468:R173C;ENSP00000431876:R605C;ENSP00000400825:R191C;ENSP00000434942:R336C	ENSP00000400825:R191C	R	+	1	0	USP35	77598362	0.999000	0.42202	0.799000	0.32177	0.884000	0.51177	0.737000	0.26144	0.508000	0.28173	0.586000	0.80456	CGC	.		0.657	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77920714	C	T	77920714	3	4	48	1	0	0	0	0	1	0	0	0	17115	768	27	1	1847	1	USP35	11	77920714	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	21410091	77920714	57085802	43	9994											
MMP8	4317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	102586132	102586132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaaataaaattcatttcGactctttgtagctgaggatg	9	5	2	2	rs530920765		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr11:102586132G>A	ENST00000236826.3	-	7	1037	c.939C>T	c.(937-939)gtC>gtT	p.V313V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	313					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.V313V(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)	AATTCATTTCGACTCTTTGTA	0.398																																					p.V313V		.											.	MMP8-229	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T						.						107	96	100					11																	102586132		2203	4299	6502	SO:0001819	synonymous_variant	4317	exon7			CATTTCGACTCTT	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.939C>T	11.37:g.102586132G>A		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	68	8	NM_002424	0	0	0	0	0	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	3.447	-0.112775	0.06881	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1067	0.30890	0.5878:0.2137:0.1393:0.0592	.	.	.	.	X	289	.	.	R	-	1	2	MMP8	102091342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.508000	0.00447	-3.667000	0.00124	-0.157000	0.13467	CGA	.		0.398	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102586132	G	A	102586132	2	1	48	1	0	0	0	0	0	0	0	1	9706	1045	37	1		1	MMP8	11	102586132	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	24665418	102586132	32420384	44	9995											
UBE3B	89910	broad.mit.edu	37	chr12	109947450	109947450	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacagatttcattcaaactgGaagagctggtcactatctcc	7	10	4	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr12:109947450G>T	ENST00000342494.3	+	16	2267	c.1672G>T	c.(1672-1674)Gaa>Taa	p.E558*	UBE3B_ENST00000280774.5_Nonsense_Mutation_p.E558*|UBE3B_ENST00000434735.2_Nonsense_Mutation_p.E558*|UBE3B_ENST00000535900.1_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	558					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						ATTCAAACTGGAAGAGCTGGT	0.373																																					p.E558X		.											.	UBE3B-660	0			c.G1672T						.						153	143	146					12																	109947450		2203	4300	6503	SO:0001587	stop_gained	89910	exon16			AAACTGGAAGAGC	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.1672G>T	12.37:g.109947450G>T	ENSP00000340596:p.Glu558*	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	88	3	NM_130466	0	0	2	2	0	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	45	11.653999	0.99587	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	.	.	.	5.81	5.81	0.92471	.	0.094804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-20.5721	18.6424	0.91399	0.0:0.0:1.0:0.0	.	.	.	.	X	558	.	ENSP00000280774:E558X	E	+	1	0	UBE3B	108431833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.385000	0.97223	2.737000	0.93849	0.650000	0.86243	GAA	.		0.373	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		T	109947450	G	T	109947450	4	4	48	1	0	0	0	0	0	1	0	0	16929	1175	41	3	1726	3	UBE3B	12	109947450	Nonsense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		109947450	23904445	45	9996											
FAM109A	144717	hgsc.bcm.edu	37	chr12	111800836	111800836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggccatgccacccccGccacgtacagccgccagctg	12	19	0	0	rs375086972		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr12:111800836G>A	ENST00000547838.2	-	2	493	c.396C>T	c.(394-396)ggC>ggT	p.G132G	FAM109A_ENST00000548163.1_Silent_p.G132G|FAM109A_ENST00000450786.2_Missense_Mutation_p.A113V|FAM109A_ENST00000392658.5_Silent_p.G132G|FAM109A_ENST00000361483.3_Silent_p.G145G			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	132					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						TGCCACCCCCGCCACGTACAG	0.721																																					p.G145G		.											.	FAM109A-90	0			c.C435T						.	G	,,	0,4100		0,0,2050	6	7	7		435,396,396	-7.8	0	12		7	3,8209		0,3,4103	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM109A	NM_001177996.1,NM_001177997.1,NM_144671.4	,,	0,3,6153	AA,AG,GG		0.0365,0.0,0.0244	,,	145/263,132/250,132/250	111800836	3,12309	2050	4106	6156	SO:0001819	synonymous_variant	144717	exon4			ACCCCCGCCACGT	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.396C>T	12.37:g.111800836G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_001177996	0	0	0	0	0	J3KP50|Q6PJL9|Q96MH8	Silent	SNP	ENST00000547838.2	37	CCDS9152.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608985	0.46527	0.0	3.65E-4	ENSG00000198324	ENST00000450786	.	.	.	3.92	-7.83	0.01201	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.22424	N	0.99911	P	0.41041	0.736	B	0.28849	0.095	T	0.10683	-1.0619	7	0.87932	D	0	.	4.4899	0.11808	0.096:0.3076:0.4299:0.1665	.	113	G3V0F1	.	V	113	.	ENSP00000390552:A113V	A	-	2	0	FAM109A	110285219	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-7.277000	0.00040	-1.838000	0.01187	-0.258000	0.10820	GCG	.		0.721	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		A	111800836	G	A	111800836	2	1	48	1	0	0	0	0	0	0	0	1	5413	1074	38	1		1	FAM109A	12	111800836	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	1853386	111800836	22051059	46	9997											
PITPNM2	57605	bcgsc.ca	37	chr12	123471094	123471094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggagccataggccgcGtgcacgcgcaggtgcagctg	17	11	0	0	rs12811109	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr12:123471094G>A	ENST00000542749.1	-	23	3678	c.3615C>T	c.(3613-3615)caC>caT	p.H1205H	PITPNM2_ENST00000280562.5_Silent_p.H1199H|PITPNM2_ENST00000320201.4_Silent_p.H1205H|PITPNM2_ENST00000392428.1_Silent_p.H926H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1205					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATAGGCCGCGTGCACGCGCA	0.682													G|||	613	0.122404	0.0431	0.1873	5008	,	,		15693	0.002		0.2157	False		,,,				2504	0.2117				p.H1205H		.											.	PITPNM2-228	0			c.C3615T						.	G		308,4096		7,294,1901	25	22	23		3615	0.1	1	12	dbSNP_121	23	1667,6931		136,1395,2768	no	coding-synonymous	PITPNM2	NM_020845.2		143,1689,4669	AA,AG,GG		19.3882,6.9936,15.19		1205/1350	123471094	1975,11027	2202	4299	6501	SO:0001819	synonymous_variant	57605	exon24			GGCCGCGTGCACG	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3615C>T	12.37:g.123471094G>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	206	8	NM_020845	0	0	4	4	0	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																			G|0.860;A|0.140		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		A	123471094	G	A	123471094	2	1	48	1	0	0	0	0	0	0	0	1	11990	1136	40	1		1	PITPNM2	12	123471094	Silent	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	11670258	123471094	10380801	47	9998											
C15orf2	23742	hgsc.bcm.edu	37	chr15	24921115	24921115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcccgggacgcctcccCgcccggtcgggctcactctg	12	20	2	0	rs35022251	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr15:24921115C>A	ENST00000329468.2	+	1	575	c.101C>A	c.(100-102)cCg>cAg	p.P34Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	34			P -> Q (in dbSNP:rs35022251).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACGCCTCCCCGCCCGGTCGG	0.711													C|||	130	0.0259585	0.0023	0.0303	5008	,	,		10406	0		0.0586	False		,,,				2504	0.0481				p.P34Q		.											.	.	0			c.C101A						.	C	GLN/PRO	32,4026		0,32,1997	7	10	9		101	-4.8	0	15	dbSNP_126	9	352,7666		8,336,3665	no	missense	C15orf2	NM_018958.2	76	8,368,5662	AA,AC,CC		4.3901,0.7886,3.1799	benign	34/1157	24921115	384,11692	2029	4009	6038	SO:0001583	missense	23742	exon1			CCTCCCCGCCCGG	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.101C>A	15.37:g.24921115C>A	ENSP00000333735:p.Pro34Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	63	0.028846153846153848	2	0.0040650406504065045	10	0.027624309392265192	0	0.0	51	0.06728232189973615	.	2.243	-0.373292	0.05034	0.007886	0.043901	ENSG00000185823	ENST00000329468	T	0.08720	3.06	2.42	-4.83	0.03161	.	.	.	.	.	T	0.00210	0.0006	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46133	-0.9213	9	0.19147	T	0.46	.	7.4625	0.27304	0.2268:0.4738:0.2994:0.0	rs35022251	34	Q9NZP6	CO002_HUMAN	Q	34	ENSP00000333735:P34Q	ENSP00000333735:P34Q	P	+	2	0	C15orf2	22472208	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.979000	0.00992	-1.747000	0.00681	CCG	C|0.970;A|0.030		0.711	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921115	C	A	24921115	3	1	48	1	0	0	0	0	1	0	0	0	1789	652	23	2	103	2	C15orf2	15	24921115	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10		24921115	77610277	48	9999											
SOLH	6650	hgsc.bcm.edu	37	chr16	597505	597505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccagggcccagctgccGaaccagagccgcccagggtc	13	18	0	1	rs377678059		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr16:597505G>A	ENST00000219611.2	+	4	1030	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	223					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCAGCTGCCGAACCAGAGCC	0.746													g|||	1	0.000199681	8e-04	0	5008	,	,		13263	0		0	False		,,,				2504	0				p.E223K		.											.	SOLH-523	0			c.G667A						.	G	LYS/GLU	0,3880		0,0,1940	10	17	14		667	2.7	0	16		14	1,7875		0,1,3937	no	missense	SOLH	NM_005632.2	56	0,1,5877	AA,AG,GG		0.0127,0.0,0.0085	benign	223/1087	597505	1,11755	1940	3938	5878	SO:0001583	missense	6650	exon4			GCTGCCGAACCAG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.667G>A	16.37:g.597505G>A	ENSP00000219611:p.Glu223Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	11	NM_005632	0	0	0	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	6.890	0.533771	0.13188	0.0	1.27E-4	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88586	-2.4	4.69	2.66	0.31614	.	2.559000	0.01516	N	0.018169	D	0.82683	0.5090	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.14578	0.011	T	0.68550	-0.5379	10	0.46703	T	0.11	.	8.9121	0.35559	0.1939:0.0:0.8061:0.0	.	223	O75808	CAN15_HUMAN	K	223	ENSP00000219611:E223K	ENSP00000219611:E223K	E	+	1	0	SOLH	537506	0.999000	0.42202	0.010000	0.14722	0.004000	0.04260	3.352000	0.52239	0.383000	0.24910	0.306000	0.20318	GAA	.		0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		A	597505	G	A	597505	3	1	48	1	0	0	0	0	1	0	0	0	14970	1059	37	1	669	1	SOLH	16	597505	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		597505	89757248	49	10000											
TELO2	9894	ucsc.edu;bcgsc.ca	37	chr16	1547477	1547477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccgggccatggaggcTgtgctgaccgggctggtgga	19	11	0	1	rs2745108	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr16:1547477T>C	ENST00000262319.6	+	5	1077	c.798T>C	c.(796-798)gcT>gcC	p.A266A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	266					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCATGGAGGCTGTGCTGACCG	0.697													N|||	1398	0.279153	0.5136	0.268	5008	,	,		17144	0.251		0.1113	False		,,,				2504	0.1718				p.A266A		.											.	TELO2-90	0			c.T798C						.			1949,2381		427,1095,643	11	12	12		798	-10.1	0	16	dbSNP_100	12	868,7674		48,772,3451	no	coding-synonymous	TELO2	NM_016111.3		475,1867,4094	CC,CT,TT		10.1616,45.0115,21.8847		266/838	1547477	2817,10055	2165	4271	6436	SO:0001819	synonymous_variant	9894	exon5			GGAGGCTGTGCTG	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.798T>C	16.37:g.1547477T>C		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	80	28	NM_016111	0	0	5	9	4	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																			T|0.754;C|0.246		0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		C	1547477	T	C	1547477	2	2	48	1	0	0	0	0	0	0	0	1	15804	1567	55	4		4	TELO2	16	1547477	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	949972	1547477	88807276	50	10001											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_033212	0	0	0	1	1	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	48	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	56015327	57562804	32791949	51	10002											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	48	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-OR-A5LA-01A-11D-A29I-10	31036893	88599697	1755056	52	10003											
ALOX12	239	broad.mit.edu	37	chr17	6903656	6903656	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccctcctgtccccagaAtggttccctgtttgaagctg	8	14	0	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr17:6903656A>G	ENST00000251535.6	+	7	862	c.809A>G	c.(808-810)aAt>aGt	p.N270S	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	270	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGTCCCCAGAATGGTTCCCTG	0.517																																					p.N270S		.											.	ALOX12-226	0			c.A809G						.						151	144	146					17																	6903656		2203	4300	6503	SO:0001630	splice_region_variant	239	exon7			CCCAGAATGGTTC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.808-1A>G	17.37:g.6903656A>G		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	89	5	NM_000697	0	0	0	0	0	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	a	6.526	0.465359	0.12402	.	.	ENSG00000108839	ENST00000251535	T	0.06528	3.29	4.87	3.79	0.43588	Lipoxygenase, C-terminal (3);	1.022680	0.07747	N	0.947942	T	0.06735	0.0172	L	0.31578	0.945	0.23555	N	0.997429	B	0.20368	0.044	B	0.25987	0.065	T	0.44298	-0.9337	10	0.27082	T	0.32	-5.4415	8.9973	0.36061	0.9111:0.0:0.0889:0.0	.	270	P18054	LOX12_HUMAN	S	270	ENSP00000251535:N270S	ENSP00000251535:N270S	N	+	2	0	ALOX12	6844380	1.000000	0.71417	0.737000	0.30932	0.652000	0.38707	5.318000	0.65829	0.985000	0.38656	0.444000	0.29173	AAT	.		0.517	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2		Missense_Mutation	G	6903656	A	G	6903656	5	3	48	1	0	0	0	0	0	0	1	0	536	115	4	4	835	4	ALOX12	17	6903656	Splice_Site	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10		6903656	74291554	53	10004											
DVL2	1856	ucsc.edu;bcgsc.ca	37	chr17	7129840	7129840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggggtgtggggcagggtaTtggtaggagaaagtgggcag	22	2	0	1	rs35594616	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr17:7129840T>C	ENST00000005340.5	-	14	1944	c.1662A>G	c.(1660-1662)caA>caG	p.Q554Q	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Silent_p.Q548Q	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	554					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGGCAGGGTATTGGTAGGAGA	0.617													T|||	2602	0.519569	0.416	0.4957	5008	,	,		15735	0.4732		0.6233	False		,,,				2504	0.6176				p.Q554Q		.											.	DVL2-659	0			c.A1662G						.	T		1944,2462	545.8+/-376.9	413,1118,672	51	55	54		1662	-2.7	0.9	17	dbSNP_126	54	5380,3220	646.5+/-400.3	1695,1990,615	no	coding-synonymous	DVL2	NM_004422.2		2108,3108,1287	CC,CT,TT		37.4419,44.1217,43.6875		554/737	7129840	7324,5682	2203	4300	6503	SO:0001819	synonymous_variant	1856	exon14			AGGGTATTGGTAG	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1662A>G	17.37:g.7129840T>C		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	30	4	NM_004422	0	0	8	8	0	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			T|0.450;C|0.550		0.617	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		C	7129840	T	C	7129840	2	2	48	1	0	0	0	0	0	0	0	1	4850	1490	52	4		4	DVL2	17	7129840	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10	226184	7129840	74065370	54	10005											
NF1	4763	hgsc.bcm.edu	37	chr17	29676201	29676202	+	Frame_Shift_Del	DEL	CT	CT	-													aattttacatacactactaaCtctggttaacaaacacagaa							TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr17:29676201_29676202delCT	ENST00000358273.4	+	49	7636_7637	c.7253_7254delCT	c.(7252-7254)actfs	p.T2418fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.T211fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.T2397fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.T131fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2418					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACACTACTAACTCTGGTTAACA	0.342			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.2418_2418del		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.7253_7254del						.																																			SO:0001589	frameshift_variant	4763	exon49	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	TACTAACTCTGGT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7253_7254delCT	17.37:g.29676203_29676204delCT	ENSP00000351015:p.Thr2418fs	Somatic	76	2		WXS	Illumina GAIIx	Phase_I	43	24	NM_001042492	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																			.		0.342	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29676202	CT	-	29676201	7	5	48	1	0	1	0	1	0	0	0	0	10395	565	20	0	7508	0	NF1	17	29676201	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LA-01A-11D-A29I-10	22546361	29676201	51519009	55	10006											
EPX	8288	broad.mit.edu	37	chr17	56274588	56274588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgtctcctcaccaacCgctcggcgcgcatcccctgc	7	22	2	0	rs573827983	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr17:56274588C>T	ENST00000225371.5	+	7	1200	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	364			R -> H (in dbSNP:rs35232062). {ECO:0000269|Ref.2}.		defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R364C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCTCACCAACCGCTCGGCGCG	0.632																																					p.R364C		.											.	EPX-92	1	Substitution - Missense(1)	large_intestine(1)	c.C1090T						.						64	65	65					17																	56274588		2203	4300	6503	SO:0001583	missense	8288	exon7			ACCAACCGCTCGG	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1090C>T	17.37:g.56274588C>T	ENSP00000225371:p.Arg364Cys	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	40	3	NM_000502	0	0	0	0	0	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547976	0.65311	.	.	ENSG00000121053	ENST00000225371	T	0.73469	-0.75	4.86	4.86	0.63082	.	0.210370	0.41823	D	0.000814	D	0.83599	0.5289	M	0.78456	2.415	0.45995	D	0.9988	D	0.89917	1.0	D	0.64776	0.929	D	0.85005	0.0902	10	0.62326	D	0.03	-10.3123	11.0265	0.47748	0.186:0.814:0.0:0.0	.	364	P11678	PERE_HUMAN	C	364	ENSP00000225371:R364C	ENSP00000225371:R364C	R	+	1	0	EPX	53629587	0.001000	0.12720	0.980000	0.43619	0.944000	0.59088	0.470000	0.22084	2.408000	0.81797	0.462000	0.41574	CGC	.		0.632	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		T	56274588	C	T	56274588	3	4	48	1	0	0	0	0	1	0	0	0	5216	652	23	1	1116	1	EPX	17	56274588	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	26598387	56274588	24920622	56	10007											
RAX	30062	hgsc.bcm.edu	37	chr18	56936395	56936395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcgcgagaggTtgcaggccggggcccaacgg	22	12	0	1	rs7226481	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr18:56936395T>C	ENST00000334889.3	-	3	1068	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	294					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCGCGAGAGGTTGCAGGCCGG	0.771													C|||	1143	0.228235	0.2421	0.1671	5008	,	,		8659	0.129		0.3032	False		,,,				2504	0.2781				p.Q294Q	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.A882G						.	C		688,3078		75,538,1270	4	6	5		882	2.2	0.3	18	dbSNP_116	5	1688,5834		233,1222,2306	no	coding-synonymous	RAX	NM_013435.2		308,1760,3576	CC,CT,TT		22.4408,18.2687,21.0489		294/347	56936395	2376,8912	1883	3761	5644	SO:0001819	synonymous_variant	30062	exon3			GAGAGGTTGCAGG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.882A>G	18.37:g.56936395T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_013435	0	0	0	0	0	Q86V11	Silent	SNP	ENST00000334889.3	37	CCDS11972.1																																																																																			T|0.767;C|0.233		0.771	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			C	56936395	T	C	56936395	2	2	48	1	0	0	0	0	0	0	0	1	13141	1722	60	4		4	RAX	18	56936395	Silent	SNP	T	TCGA-OR-A5LA-01A-11D-A29I-10		56936395	21140853	57	10008											
GRIN3B	116444	hgsc.bcm.edu	37	chr19	1003292	1003292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaagccgggctggccGgcccccacagctggtcctgg	15	16	0	0	rs149087926	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr19:1003292G>A	ENST00000234389.3	+	2	609	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	197					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGGGCTGGCCGGCCCCCACAG	0.746													g|||	7	0.00139776	0	0	5008	,	,		12044	0		0.007	False		,,,				2504	0				p.R197Q		.											.	GRIN3B-90	0			c.G590A						.	G	GLN/ARG	7,3903		0,7,1948	4	6	6		590	-0.5	0.6	19	dbSNP_134	6	22,7878		0,22,3928	no	missense	GRIN3B	NM_138690.1	43	0,29,5876	AA,AG,GG		0.2785,0.179,0.2456	benign	197/1044	1003292	29,11781	1955	3950	5905	SO:0001583	missense	116444	exon2			CTGGCCGGCCCCC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.590G>A	19.37:g.1003292G>A	ENSP00000234389:p.Arg197Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	7	NM_138690	0	0	0	0	0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	g	6.773	0.511513	0.12944	0.00179	0.002785	ENSG00000116032	ENST00000234389	T	0.10477	2.87	4.16	-0.518	0.11943	.	3.857410	0.01315	N	0.010758	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.31998	-0.9923	10	0.40728	T	0.16	.	3.3735	0.07229	0.3322:0.0:0.3072:0.3607	.	197	O60391	NMD3B_HUMAN	Q	197	ENSP00000234389:R197Q	ENSP00000234389:R197Q	R	+	2	0	GRIN3B	954292	0.629000	0.27146	0.599000	0.28851	0.127000	0.20565	1.991000	0.40727	0.040000	0.15660	-0.274000	0.10170	CGG	G|0.997;A|0.003		0.746	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			A	1003292	G	A	1003292	3	1	48	1	0	0	0	0	1	0	0	0	6811	1116	39	1	596	1	GRIN3B	19	1003292	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		1003292	58125691	58	10009											
ZNRF4	148066	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	5456615	5456615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctacagcttcagggaCgaggacccctccctaccggg	10	17	1	0	rs374460618		TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr19:5456615C>T	ENST00000222033.4	+	1	1190	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	371						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D371D(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTTCAGGGACGAGGACCCCT	0.682																																					p.D371D		.											.	ZNRF4-135	1	Substitution - coding silent(1)	kidney(1)	c.C1113T						.	C		1,3993		0,1,1996	62	71	68		1113	-8.4	0	19		68	0,8334		0,0,4167	no	coding-synonymous	ZNRF4	NM_181710.3		0,1,6163	TT,TC,CC		0.0,0.025,0.0081		371/430	5456615	1,12327	1997	4167	6164	SO:0001819	synonymous_variant	148066	exon1			CAGGGACGAGGAC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1113C>T	19.37:g.5456615C>T		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_181710	0	0	0	0	0	A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																			.		0.682	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		T	5456615	C	T	5456615	2	4	48	1	0	0	0	0	0	0	0	1	18262	535	19	1		1	ZNRF4	19	5456615	Silent	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	4453323	5456615	53672368	59	10010											
MUC16	94025	bcgsc.ca	37	chr19	9068397	9068397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caatctttttcatcgcagagGatctaggcattgatgtggaa	10	7	3	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr19:9068397G>T	ENST00000397910.4	-	3	19252	c.19049C>A	c.(19048-19050)tCc>tAc	p.S6350Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6352	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						CATCGCAGAGGATCTAGGCAT	0.458																																					p.S6350Y		.											.	MUC16-566	0			c.C19049A						.						98	90	93					19																	9068397		1921	4133	6054	SO:0001583	missense	94025	exon3			GCAGAGGATCTAG	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.19049C>A	19.37:g.9068397G>T	ENSP00000381008:p.Ser6350Tyr	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.534	-0.095045	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.25749	1.78	2.4	-0.15	0.13416	.	.	.	.	.	T	0.29126	0.0724	L	0.36672	1.1	.	.	.	D	0.62365	0.991	P	0.59288	0.855	T	0.35400	-0.9790	8	0.87932	D	0	.	4.3329	0.11073	0.4761:0.0:0.5239:0.0	.	6350	B5ME49	.	Y	6350	ENSP00000381008:S6350Y	ENSP00000381008:S6350Y	S	-	2	0	MUC16	8929397	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.587000	0.05780	0.017000	0.15025	0.187000	0.17357	TCC	.		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068397	G	T	9068397	3	4	48	1	0	0	0	0	1	0	0	0	10011	1174	41	3	24802	3	MUC16	19	9068397	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	3611782	9068397	50060586	60	10011											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	48	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	24099058	33167455	25961528	61	10012											
GEMIN7	79760	broad.mit.edu	37	chr19	45593754	45593754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgacattatttcatatAccttcaagccataaagatat	5	7	2	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr19:45593754A>C	ENST00000270257.4	+	3	629	c.382A>C	c.(382-384)Acc>Ccc	p.T128P	GEMIN7_ENST00000591607.1_Missense_Mutation_p.T128P|GEMIN7_ENST00000591747.1_Missense_Mutation_p.T128P|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.T128P	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	128					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TATTTCATATACCTTCAAGCC	0.517																																					p.T128P		.											.	GEMIN7-91	0			c.A382C						.						38	42	41					19																	45593754		2200	4289	6489	SO:0001583	missense	79760	exon3			TCATATACCTTCA	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.382A>C	19.37:g.45593754A>C	ENSP00000270257:p.Thr128Pro	Somatic	124	21		WXS	Illumina GAIIx	Phase_I	122	29	NM_024707	0	0	10	10	0	Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666389	0.29604	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.99	2.74	0.32292	.	0.192590	0.45126	D	0.000387	T	0.50684	0.1630	L	0.38175	1.15	0.80722	D	1	D	0.53151	0.958	P	0.54210	0.745	T	0.50285	-0.8846	9	0.72032	D	0.01	-13.1048	7.7097	0.28671	0.4236:0.0:0.0:0.5764	.	128	Q9H840	GEMI7_HUMAN	P	128	.	ENSP00000270257:T128P	T	+	1	0	GEMIN7	50285594	1.000000	0.71417	0.700000	0.30305	0.315000	0.28087	1.710000	0.37920	0.710000	0.31997	0.454000	0.30748	ACC	.		0.517	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			C	45593754	A	C	45593754	3	2	48	1	0	0	0	0	1	0	0	0	6359	391	14	5	384	5	GEMIN7	19	45593754	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	12426299	45593754	13535229	62	10013											
BCL2L1	598	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	30309831	30309831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtggctccattcaccGcggggctgtctgccaggtgc	15	14	2	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr20:30309831G>A	ENST00000307677.4	-	2	601	c.191C>T	c.(190-192)gCg>gTg	p.A64V	BCL2L1_ENST00000376055.4_Missense_Mutation_p.A64V|BCL2L1_ENST00000420653.1_Missense_Mutation_p.A64V|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A64V	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	64					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCCATTCACCGCGGGGCTGTC	0.612																																					p.A64V	Colon(51;693 1004 1401 20431 21026)	.											.	BCL2L1-1084	0			c.C191T						.						59	60	59					20																	30309831		2203	4300	6503	SO:0001583	missense	598	exon2			TTCACCGCGGGGC	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.191C>T	20.37:g.30309831G>A	ENSP00000302564:p.Ala64Val	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	95	38	NM_138578	0	0	1	3	2	E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583867	0.13749	.	.	ENSG00000171552	ENST00000376062;ENST00000376055;ENST00000307677;ENST00000420653;ENST00000450273;ENST00000420488;ENST00000456404;ENST00000422920;ENST00000439267	T;T;T;T;T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78;3.78;3.78;3.78;3.78	5.64	4.7	0.59300	.	0.591988	0.18962	N	0.126369	T	0.02119	0.0066	N	0.04508	-0.205	0.09310	N	1	B;B	0.28291	0.206;0.001	B;B	0.06405	0.002;0.0	T	0.47275	-0.9130	10	0.20046	T	0.44	-1.8703	8.1047	0.30879	0.1801:0.0:0.8199:0.0	.	64;64	Q5TE63;Q07817	.;B2CL1_HUMAN	V	64	ENSP00000365230:A64V;ENSP00000365223:A64V;ENSP00000302564:A64V;ENSP00000405563:A64V;ENSP00000406203:A64V;ENSP00000390760:A64V;ENSP00000395545:A64V;ENSP00000411252:A64V;ENSP00000389688:A64V	ENSP00000302564:A64V	A	-	2	0	BCL2L1	29773492	0.837000	0.29446	0.045000	0.18777	0.585000	0.36419	4.197000	0.58413	1.629000	0.50426	-0.143000	0.13931	GCG	.		0.612	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		A	30309831	G	A	30309831	3	1	48	1	0	0	0	0	1	0	0	0	1368	1087	38	1	518	1	BCL2L1	20	30309831	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10		30309831	32715689	63	10014											
BAGE2	85319	bcgsc.ca	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							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)		AAATGCACATCGCTGAAAGGG	0.383																																					p.D40N		.											.	.	0			c.G118A						.						92	70	77					21																	11058322		692	1591	2283			85319	exon3			GCACATCGCTGAA	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.11058322C>T		Somatic	250	4		WXS	Illumina GAIIx	Phase_I	235	14	NM_182482	0	0	0	0	0	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																				C|0.750;T|0.250		0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		T	11058322	C	T	11058322	1	4	48	0	1	0	0	0	0	0	0	0	1293	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10		11058322	37071573	64	10015											
TMPRSS2	7113	bcgsc.ca	37	chr21	42845383	42845383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgctctcgccgcccacAatcctgctctggcggcttga	11	17	2	1	rs17854725	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr21:42845383A>G	ENST00000332149.5	-	9	902	c.768T>C	c.(766-768)atT>atC	p.I256I	TMPRSS2_ENST00000398585.3_Silent_p.I293I|TMPRSS2_ENST00000458356.1_Silent_p.I256I	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000255}.			positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCCGCCCACAATCCTGCTCT	0.667			T	"ERG, ETV1, ETV4, ETV5"	prostate								G|||	1834	0.366214	0.3389	0.4107	5008	,	,		14991	0.121		0.5417	False		,,,				2504	0.4438				p.I293I		.		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	.	TMPRSS2-5208	0			c.T879C						.	G	,	1714,2650		339,1036,807	21	20	21		879,768	-5.5	0.7	21	dbSNP_123	21	4660,3900		1312,2036,932	no	coding-synonymous,coding-synonymous	TMPRSS2	NM_001135099.1,NM_005656.3	,	1651,3072,1739	GG,GA,AA		45.5607,39.2759,49.3191	,	293/530,256/493	42845383	6374,6550	2182	4280	6462	SO:0001819	synonymous_variant	7113	exon9			GCCCACAATCCTG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.768T>C	21.37:g.42845383A>G		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	245	8	NM_001135099	0	0	0	0	0	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	CCDS33564.1																																																																																			A|0.555;G|0.445		0.667	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			G	42845383	A	G	42845383	2	3	48	1	0	0	0	0	0	0	0	1	16294	126	5	4		4	TMPRSS2	21	42845383	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	31787061	42845383	5284512	65	10016											
KRTAP10-1	386677	bcgsc.ca	37	chr21	45959559	45959559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggcagcatgaagaggaatCctcagagcaggtgggcacat	14	9	1	3	rs34549147|rs62218859	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr21:45959559C>A	ENST00000400375.1	-	1	519	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	159	24 X 5 AA repeats of C-C-X(3).			D -> S (in Ref. 1; BAD01534 and 3; AAI20960/AAI20961). {ECO:0000305}.		keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GAAGAGGAATCCTCAGAGCAG	0.612													C|||	3015	0.602037	0.6952	0.5908	5008	,	,		18587	0.4921		0.6382	False		,,,				2504	0.5603				p.D159Y		.											.	KRTAP10-1-91	0			c.G475T						.	C	TYR/ASP,	1507,2899		570,367,1266	98	106	103		475,	-1.4	0	21	dbSNP_129	103	2707,5893		1014,679,2607	yes	missense,intron	TSPEAR,KRTAP10-1	NM_198691.2,NM_144991.2	160,	1584,1046,3873	AA,AC,CC		31.4767,34.2034,32.4004	possibly-damaging,	159/283,	45959559	4214,8792	2203	4300	6503	SO:0001583	missense	386677	exon1			AGGAATCCTCAGA	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.475G>T	21.37:g.45959559C>A	ENSP00000383226:p.Asp159Tyr	Somatic	456	5		WXS	Illumina GAIIx	Phase_I	546	16	NM_198691	0	0	0	0	0	Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	CCDS42954.1	1116	0.510989010989011	269	0.5467479674796748	219	0.6049723756906077	248	0.43356643356643354	380	0.5013192612137203	c	0.004	-2.244596	0.00271	0.342034	0.314767	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00760	5.73	2.19	-1.37	0.09056	.	.	.	.	.	T	0.00012	0.0000	L	0.39898	1.24	0.80722	P	0.0	P	0.40970	0.734	B	0.36567	0.228	T	0.09314	-1.0680	8	0.59425	D	0.04	.	2.5578	0.04764	0.1804:0.5136:0.1743:0.1317	rs62218859	159	P60331	KR101_HUMAN	Y	159	ENSP00000383226:D159Y	ENSP00000383226:D159Y	D	-	1	0	KRTAP10-1	44783987	0.062000	0.20869	0.000000	0.03702	0.012000	0.07955	0.550000	0.23345	-1.167000	0.02779	-2.067000	0.00394	GAT	C|0.434;A|0.566		0.612	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			A	45959559	C	A	45959559	3	1	48	1	0	0	0	0	1	0	0	0	8532	855	30	3	377	3	KRTAP10-1	21	45959559	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	3114176	45959559	2170336	66	10017											
CCDC157	550631	bcgsc.ca	37	chr22	30767637	30767637	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctcttggctgccatAgaaacaagtgacctaaagac	8	12	2	3			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr22:30767637A>G	ENST00000405659.1	+	6	1754		c.e6-1		CCDC157_ENST00000338306.3_Splice_Site			Q569K6	CC157_HUMAN	coiled-coil domain containing 157											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGCTGCCATAGAAACAAGTG	0.607																																					.		.											.	.	0			.						.						65	63	64					22																	30767637		2203	4300	6503	SO:0001630	splice_region_variant	0	.			TGCCATAGAAACA	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1046-1A>G	22.37:g.30767637A>G		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	46	4	.	0	0	0	0	0	Q0VD76|Q9BYA4	RNA	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	A	8.080	0.772165	0.16051	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	.	.	.	5.4	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9489	0.24534	0.7734:0.1485:0.0781:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC157	29097637	0.688000	0.27680	0.912000	0.35992	0.069000	0.16628	1.148000	0.31614	2.051000	0.60960	0.454000	0.30748	.	.		0.607	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437	Intron	G	30767637	A	G	30767637	5	3	48	1	0	0	0	0	0	0	1	0	2796	434	15	4	1058	4	CCDC157	22	30767637	Splice_Site	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10		30767637	20536929	67	10018											
SH3BP1	23616	bcgsc.ca	37	chr22	38046718	38046718	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccagccttggcttcagcAgctaccaaggaaaggtgagg	13	12	1	1	rs762987	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr22:38046718A>G	ENST00000357436.4	+	16	1897	c.1584A>G	c.(1582-1584)gcA>gcG	p.A528A	SH3BP1_ENST00000599616.1_Silent_p.A464A|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	528					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)					TGGCTTCAGCAGCTACCAAGG	0.642													G|||	778	0.155351	0.3759	0.0735	5008	,	,		15112	0.0149		0.0626	False		,,,				2504	0.1554				p.A528A		.											.	SH3BP1-90	0			c.A1584G						.	G		1518,2888		272,974,957	27	31	30		1584	-0.9	0	22	dbSNP_86	30	654,7946		29,596,3675	no	coding-synonymous	SH3BP1	NM_018957.3		301,1570,4632	GG,GA,AA		7.6047,34.453,16.7		528/702	38046718	2172,10834	2203	4300	6503	SO:0001819	synonymous_variant	23616	exon16			TTCAGCAGCTACC		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.1584A>G	22.37:g.38046718A>G		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	122	5	NM_018957	0	0	0	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			A|0.859;G|0.141		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		G	38046718	A	G	38046718	2	3	48	1	0	0	0	0	0	0	0	1	14289	175	7	4		4	SH3BP1	22	38046718	Silent	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	7279081	38046718	13257848	68	10019											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	48	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	75744	38122462	13182104	69	10020											
C22orf40	150383	ucsc.edu;bcgsc.ca	37	chr22	46644168	46644168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagaggacggcactctAcatgggacgccatctgcaag	11	14	2	1	rs9627281	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chr22:46644168A>G	ENST00000314567.3	-	2	437	c.14T>C	c.(13-15)gTa>gCa	p.V5A	CDPF1_ENST00000404583.1_Missense_Mutation_p.V5A|CDPF1_ENST00000404744.1_Missense_Mutation_p.V5A|CDPF1_ENST00000475605.1_Intron	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	5			V -> A (in dbSNP:rs9627281).														ACGGCACTCTACATGGGACGC	0.547													G|||	1398	0.279153	0.7602	0.1686	5008	,	,		19465	0.001		0.1938	False		,,,				2504	0.0818				p.V5A		.											.	.	0			c.T14C						.	G	ALA/VAL	3035,1371	450.4+/-349.3	1051,933,219	73	56	62		14	0.4	0	22	dbSNP_119	62	1571,7029	742.3+/-407.2	135,1301,2864	yes	missense	C22orf40	NM_207327.4	64	1186,2234,3083	GG,GA,AA		18.2674,31.1167,35.4144	benign	5/124	46644168	4606,8400	2203	4300	6503	SO:0001583	missense	150383	exon2			CACTCTACATGGG		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.14T>C	22.37:g.46644168A>G	ENSP00000325301:p.Val5Ala	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	38	4	NM_207327	0	0	0	0	0	A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	CCDS33670.1	566	0.2591575091575092	358	0.7276422764227642	69	0.19060773480662985	0	0.0	139	0.18337730870712401	G	0.220	-1.029070	0.02045	0.688833	0.182674	ENSG00000205643	ENST00000404583;ENST00000314567;ENST00000404744	T;T;T	0.28895	1.69;1.72;1.59	5.02	0.371	0.16168	.	1.182090	0.06046	N	0.655683	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43861	-0.9365	9	0.02654	T	1	.	1.6123	0.02696	0.1825:0.3076:0.3521:0.1578	rs9627281	5;5;5	Q6NVV7;F6RAJ7;F6UL18	CV040_HUMAN;.;.	A	5	ENSP00000384451:V5A;ENSP00000325301:V5A;ENSP00000385460:V5A	ENSP00000325301:V5A	V	-	2	0	C22orf40	45022832	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.533000	0.23082	0.288000	0.22398	-0.119000	0.15052	GTA	A|0.682;G|0.318		0.547	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		G	46644168	A	G	46644168	3	3	48	1	0	0	0	0	1	0	0	0	2155	391	14	4	369	4	C22orf40	22	46644168	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10	8521706	46644168	4660398	70	10021											
TLR7	51284	bcgsc.ca	37	chrX	12903659	12903659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggacactgaagagacAaattcttatcctttttaaca	6	7	1	2	rs179008	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chrX:12903659A>T	ENST00000380659.3	+	3	171	c.32A>T	c.(31-33)cAa>cTa	p.Q11L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	11			Q -> L (in dbSNP:rs179008). {ECO:0000269|PubMed:19924287}.		cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGAAGAGACAAATTCTTATC	0.358													A|||	446	0.118146	0.0908	0.1599	3775	,	,		14565	0		0.1759	False		,,,				2504	0.0389				p.Q11L		.											.	TLR7-564	0			c.A32T	GRCh37	CM084786	TLR7	M	rs179008	.	A	LEU/GLN	521,3314		25,397,74,1210,497	129	129	129		32	-5.4	0	X	dbSNP_79	129	1429,5299		98,792,441,1538,1431	yes	missense	TLR7	NM_016562.3	113	123,1189,515,2748,1928	TT,TA,T,AA,A		21.2396,13.5854,18.4607	benign	11/1050	12903659	1950,8613	2203	4300	6503	SO:0001583	missense	51284	exon3			AGAGACAAATTCT	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.32A>T	X.37:g.12903659A>T	ENSP00000370034:p.Gln11Leu	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	116	6	NM_016562	0	0	0	0	0	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	253	0.1525015069318867	34	0.0735930735930736	38	0.1165644171779141	0	0.0	110	0.16224188790560473	A	8.200	0.797989	0.16327	0.135854	0.212396	ENSG00000196664	ENST00000380659	T	0.46819	0.86	5.72	-5.42	0.02640	.	0.888102	0.09632	N	0.776072	T	0.00012	0.0000	L	0.29908	0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.37606	T	0.19	.	1.4567	0.02387	0.262:0.3564:0.1455:0.2361	rs179008;rs629938;rs17256060;rs179008	11	Q9NYK1	TLR7_HUMAN	L	11	ENSP00000370034:Q11L	ENSP00000370034:Q11L	Q	+	2	0	TLR7	12813580	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	0.053000	0.14184	-0.637000	0.05516	0.421000	0.28195	CAA	0|0.021;A|0.822;T|0.157		0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12903659	A	T	12903659	3	4	48	1	0	0	0	0	1	0	0	0	16003	130	5	5	38	5	TLR7	23	12903659	Missense_Mutation	SNP	A	TCGA-OR-A5LA-01A-11D-A29I-10		12903659	142366901	71	10022											
MAGT1	84061	hgsc.bcm.edu	37	chrX	77111010	77111010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttaccacatgtcccgtGtggggattcttatgggcata	10	11	1	0			TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chrX:77111010G>T	ENST00000358075.6	-	6	932	c.846C>A	c.(844-846)caC>caA	p.H282Q		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	250					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CATGTCCCGTGTGGGGATTCT	0.403																																					p.H282Q		.											.	MAGT1-63	0			c.C846A						.						111	100	104					X																	77111010		2203	4296	6499	SO:0001583	missense	84061	exon6			TCCCGTGTGGGGA		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.846C>A	X.37:g.77111010G>T	ENSP00000354649:p.His282Gln	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_032121	0	0	0	0	0	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	g	6.469	0.454638	0.12283	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.76186	-1.0	5.7	1.37	0.22104	.	0.244803	0.40554	U	0.001075	T	0.40839	0.1133	N	0.01751	-0.74	0.80722	D	1	B	0.10296	0.003	B	0.17098	0.017	T	0.38542	-0.9656	10	0.05525	T	0.97	-7.7381	9.4365	0.38641	0.4588:0.0:0.5412:0.0	.	250	Q9H0U3	MAGT1_HUMAN	Q	282;133	ENSP00000354649:H282Q	ENSP00000354649:H282Q	H	-	3	2	MAGT1	76997666	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	0.760000	0.26475	0.186000	0.20125	0.502000	0.49764	CAC	.		0.403	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		T	77111010	G	T	77111010	3	4	48	1	0	0	0	0	1	0	0	0	9234	1368	48	3	277	3	MAGT1	23	77111010	Missense_Mutation	SNP	G	TCGA-OR-A5LA-01A-11D-A29I-10	64207351	77111010	78159550	72	10023											
PLXNA3	55558	bcgsc.ca	37	chrX	153694334	153694334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcaccatcgtgggtgaCaacctgggcctcttgtcccg	13	14	2	1	rs5945430	byFrequency	TCGA-OR-A5LA-01A-11D-A29I-10	TCGA-OR-A5LA-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	88fcb98e-87f0-400d-a518-d71acd4d4f15	dbf1a7bc-94a6-4ca2-af78-a3649deac3ed	g.chrX:153694334C>G	ENST00000369682.3	+	14	2764	c.2589C>G	c.(2587-2589)gaC>gaG	p.D863E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	863	IPT/TIG 1.		D -> E (in dbSNP:rs5945430). {ECO:0000269|PubMed:8570614}.		axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGGGTGACAACCTGGGCC	0.642													g|||	1453	0.384901	0.6725	0.0994	3775	,	,		12442	0.128		0.0875	False		,,,				2504	0.2843				p.D863E		.											.	PLXNA3-132	0			c.C2589G						.		GLU/ASP	3042,793		1031,515,465,86,106	64	57	59		2589	4.4	1	X	dbSNP_114	59	895,5833		46,535,268,1847,1604	no	missense	PLXNA3	NM_017514.3	45	1077,1050,733,1933,1710	GG,GC,G,CC,C		13.3026,20.678,37.2716	benign	863/1872	153694334	3937,6626	2203	4300	6503	SO:0001583	missense	55558	exon14			GGGTGACAACCTG	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.2589C>G	X.37:g.153694334C>G	ENSP00000358696:p.Asp863Glu	Somatic	321	2		WXS	Illumina GAIIx	Phase_I	268	7	NM_017514	0	0	2	2	0	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	482	0.29053646775165765	225	0.7867132867132867	24	0.06857142857142857	38	0.07063197026022305	44	0.062146892655367235	G	0.144	-1.099405	0.01843	0.79322	0.133026	ENSG00000130827	ENST00000369682	T	0.75821	-0.97	5.32	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.129129	0.52532	N	0.000076	T	0.00012	0.0000	N	0.00041	-2.485	0.46499	P	9.219999999999784E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.42865	-0.9426	9	0.06365	T	0.9	.	7.6459	0.28321	0.0881:0.3108:0.6011:0.0	rs5945430;rs58038932	863	P51805	PLXA3_HUMAN	E	863	ENSP00000358696:D863E	ENSP00000358696:D863E	D	+	3	2	PLXNA3	153347528	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	2.837000	0.48191	1.024000	0.39682	-0.176000	0.13171	GAC	C|0.625;G|0.375		0.642	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		G	153694334	C	G	153694334	3	3	48	1	0	0	0	0	1	0	0	0	12160	477	17	3	2639	3	PLXNA3	23	153694334	Missense_Mutation	SNP	C	TCGA-OR-A5LA-01A-11D-A29I-10	76583324	153694334	1576226	73	10024											
MORN1	79906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	2316501	2316501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgtcgtacttgtcaccGttcctgggggacacacgcac	11	15	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:2316501G>A	ENST00000378531.3	-	6	626	c.453C>T	c.(451-453)aaC>aaT	p.N151N	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Silent_p.N151N	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	151										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACTTGTCACCGTTCCTGGGGG	0.711																																					p.N151N		.											.	MORN1-92	0			c.C453T						.						25	24	25					1																	2316501		2189	4295	6484	SO:0001819	synonymous_variant	79906	exon6			GTCACCGTTCCTG	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.453C>T	1.37:g.2316501G>A		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	69	29	NM_024848	0	0	0	0	0	A6NKZ6|Q8WW30|Q9H852	Silent	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840681	0.16891	.	.	ENSG00000116151	ENST00000449373	.	.	.	4.62	-1.6	0.08426	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	P	0.37233	0.588	B	0.32211	0.142	T	0.20140	-1.0284	7	0.87932	D	0	.	9.664	0.39972	0.6545:0.0:0.3455:0.0	.	102	Q5T088	.	M	102	.	ENSP00000390261:T102M	T	-	2	0	MORN1	2306361	0.035000	0.19736	0.950000	0.38849	0.869000	0.49853	-1.688000	0.01925	-0.560000	0.06102	-0.258000	0.10820	ACG	.		0.711	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		A	2316501	G	A	2316501	2	1	49	1	0	0	0	0	0	0	0	1	9746	1136	40	1		1	MORN1	1	2316501	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		2316501	246934120	1	10025											
RPL22	6146	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	6246838	6246840	+	In_Frame_Del	DEL	TTC	TTC	-													gcaaccagtcacgtagattaTtcttcttcaaatattttttg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TTC	TTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:6246838_6246840delTTC	ENST00000234875.4	-	4	317_319	c.279_281delGAA	c.(277-282)aagaat>aat	p.K93del	RPL22_ENST00000497965.1_In_Frame_Del_p.K60del|RPL22_ENST00000484532.1_Intron	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	93					alpha-beta T cell differentiation (GO:0046632)|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)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		ACGTAGATTATTCTTCTTCAAAT	0.394			T	RUNX1	"AML, CML"																																p.93_94del		.		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	.	RPL22-650	0			c.279_281del						.																																			SO:0001651	inframe_deletion	6146	exon4			AGATTATTCTTCT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.279_281delGAA	1.37:g.6246844_6246846delTTC	ENSP00000346088:p.Lys93del	Somatic	323	0		WXS	Illumina GAIIx	Phase_I	297	191	NM_000983	0	0	0	0	0	B2R495|Q6IBD1	In_Frame_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																			.		0.394	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		-	6246840	TTC	-	6246838	7	5	49	1	0	1	0	1	0	0	0	0	13613	1493	52	0	109	0	RPL22	1	6246838	In_Frame_Del	DEL	TTC	TCGA-OR-A5LB-01A-11D-A29I-10	3930337	6246838	243003783	2	10026											
DFFA	1676	broad.mit.edu	37	chr1	10521671	10521671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgcagggcgagctccCgctcacaggcctcctgaaca	13	16	1	1	rs372939210		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:10521671C>T	ENST00000377038.3	-	6	939	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	RP5-1113E3.3_ENST00000424487.1_RNA	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	291				R -> W (in Ref. 8; AAH07721). {ECO:0000305}.	apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGCGAGCTCCCGCTCACAGGC	0.567																																					p.R291Q		.											.	DFFA-90	0			c.G872A						.	T	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	81	82	82		872,	-1.5	0	1		82	0,8600		0,0,4300	no	missense,utr-3	DFFA	NM_004401.2,NM_213566.1	43,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,	291/332,	10521671	1,13005	2203	4300	6503	SO:0001583	missense	1676	exon6			AGCTCCCGCTCAC	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.872G>A	1.37:g.10521671C>T	ENSP00000366237:p.Arg291Gln	Somatic	308	0		WXS	Illumina GAIIx	Phase_I	320	6	NM_004401	0	0	9	9	0	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	CCDS118.1	.	.	.	.	.	.	.	.	.	.	c	0.276	-0.989895	0.02162	2.27E-4	0.0	ENSG00000160049	ENST00000377038	.	.	.	5.28	-1.53	0.08611	DNA fragmentation factor 45kDa, C-terminal (1);	0.533386	0.22354	N	0.061180	T	0.10594	0.0259	N	0.00583	-1.355	0.49299	D	0.99977	B	0.10296	0.003	B	0.01281	0.0	T	0.39901	-0.9591	9	0.02654	T	1	-4.7106	6.3496	0.21369	0.0:0.1465:0.2547:0.5988	.	291	O00273	DFFA_HUMAN	Q	291	.	ENSP00000366237:R291Q	R	-	2	0	DFFA	10444258	0.993000	0.37304	0.010000	0.14722	0.190000	0.23558	0.607000	0.24209	-0.563000	0.06078	-1.139000	0.01908	CGG	.		0.567	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		T	10521671	C	T	10521671	3	4	49	1	0	0	0	0	1	0	0	0	4466	652	23	1	127	1	DFFA	1	10521671	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	4274833	10521671	238728950	3	10027											
ZBTB40	9923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	22852723	22852723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccagagccggtggcccCgacagagcaggtgatcactt	12	14	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:22852723C>T	ENST00000375647.4	+	18	3761	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	ZBTB40_ENST00000404138.1_Missense_Mutation_p.P1185L|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P1073L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1185					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCGGTGGCCCCGACAGAGCAG	0.562																																					p.P1185L		.											.	ZBTB40-91	0			c.C3554T						.						80	81	80					1																	22852723		2203	4300	6503	SO:0001583	missense	9923	exon19			TGGCCCCGACAGA	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3554C>T	1.37:g.22852723C>T	ENSP00000364798:p.Pro1185Leu	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	136	125	NM_001083621	0	0	0	0	0	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361924	0.41801	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.05925	3.37;3.37;3.37	5.7	4.78	0.61160	.	0.253503	0.28482	N	0.015182	T	0.06554	0.0168	L	0.40543	1.245	0.26307	N	0.977885	P;P	0.39782	0.681;0.688	B;B	0.34301	0.179;0.087	T	0.19745	-1.0296	10	0.39692	T	0.17	-2.3837	14.0374	0.64654	0.1518:0.8482:0.0:0.0	.	1073;1185	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	L	1185;1185;1073	ENSP00000384527:P1185L;ENSP00000364798:P1185L;ENSP00000363782:P1073L	ENSP00000363782:P1073L	P	+	2	0	ZBTB40	22725310	0.013000	0.17824	0.380000	0.26093	0.399000	0.30720	2.495000	0.45337	1.405000	0.46838	0.650000	0.86243	CCG	.		0.562	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22852723	C	T	22852723	3	4	49	1	0	0	0	0	1	0	0	0	17590	652	23	1	3620	1	ZBTB40	1	22852723	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	12331052	22852723	226397898	4	10028											
HPCAL4	51440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	40148354	40148354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgctggggcgtgagccCgtcctggttcatgcgcatca	14	13	2	1	rs532685057		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:40148354C>T	ENST00000372844.3	-	4	821	c.430G>A	c.(430-432)Ggg>Agg	p.G144R		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	144					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCGTGAGCCCGTCCTGGTTC	0.567													C|||	1	0.000199681	0	0	5008	,	,		20215	0		0	False		,,,				2504	0.001				p.G144R		.											.	HPCAL4-90	0			c.G430A						.						125	107	113					1																	40148354		2203	4300	6503	SO:0001583	missense	51440	exon4			TGAGCCCGTCCTG	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.430G>A	1.37:g.40148354C>T	ENSP00000361935:p.Gly144Arg	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	235	217	NM_016257	0	0	0	0	0	B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124695	0.94429	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.72505	-0.66	4.64	4.64	0.57946	EF-hand-like domain (1);	0.063724	0.64402	D	0.000009	T	0.76463	0.3991	N	0.26162	0.8	0.80722	D	1	D;P	0.89917	1.0;0.588	D;B	0.75020	0.985;0.108	T	0.80030	-0.1553	10	0.72032	D	0.01	.	18.4036	0.90526	0.0:1.0:0.0:0.0	.	72;144	B4DGW9;Q9UM19	.;HPCL4_HUMAN	R	144;136	ENSP00000361935:G144R	ENSP00000361935:G144R	G	-	1	0	HPCAL4	39920941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.655000	0.83696	2.531000	0.85337	0.313000	0.20887	GGG	.		0.567	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		T	40148354	C	T	40148354	3	4	49	1	0	0	0	0	1	0	0	0	7358	652	23	1	149	1	HPCAL4	1	40148354	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	17295631	40148354	209102267	5	10029											
TRIT1	54802	bcgsc.ca	37	chr1	40309802	40309802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgatccccaatgatgattCgatcacagaggtcacacagg	10	12	2	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:40309802C>T	ENST00000316891.5	-	10	1219	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	TRIT1_ENST00000537440.1_Missense_Mutation_p.R98Q|TRIT1_ENST00000537223.1_Missense_Mutation_p.R98Q|TRIT1_ENST00000545233.1_Missense_Mutation_p.R156Q|TRIT1_ENST00000441669.2_Missense_Mutation_p.R320Q|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Missense_Mutation_p.R20Q|TRIT1_ENST00000372818.1_Missense_Mutation_p.R376Q	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	402					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGATGATTCGATCACAGAG	0.448																																					p.R402Q		.											.	TRIT1-91	0			c.G1205A						.						137	122	128					1																	40309802		2203	4300	6503	SO:0001583	missense	54802	exon10			ATGATTCGATCAC	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1205G>A	1.37:g.40309802C>T	ENSP00000321810:p.Arg402Gln	Somatic	81	3		WXS	Illumina GAIIx	Phase_I	92	84	NM_017646	0	0	0	7	7	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801567	0.90538	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	T;T	0.46451	0.88;0.87	6.17	5.26	0.73747	Zinc finger, double-stranded RNA binding (1);	0.048204	0.85682	D	0.000000	T	0.62925	0.2468	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.76071	0.981;0.973;0.977;0.987	T	0.65022	-0.6269	10	0.51188	T	0.08	-8.7436	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	402;376;320;98	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	Q	376;320;314;402;376;295;156;98;98;20	ENSP00000321810:R402Q;ENSP00000361905:R376Q	ENSP00000046894:R376Q	R	-	2	0	TRIT1	40082389	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.368000	0.52357	1.630000	0.50440	0.655000	0.94253	CGA	.		0.448	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		T	40309802	C	T	40309802	3	4	49	1	0	0	0	0	1	0	0	0	16608	884	31	1	206	1	TRIT1	1	40309802	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	161448	40309802	208940819	6	10030											
CYP4A22	284541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	47610627	47610627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcaccttccctgatgggCgctccttgcccaaaggtatg	10	15	1	1	rs371439568		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:47610627C>G	ENST00000371891.3	+	9	1238	c.1207C>G	c.(1207-1209)Cgc>Ggc	p.R403G	CYP4A22_ENST00000371890.3_Missense_Mutation_p.R305G|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R403G|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	403						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.R403G(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						CCCTGATGGGCGCTCCTTGCC	0.577																																					p.R403G	Pancreas(88;1240 1470 2099 14214 37557)	.											.	CYP4A22-139	1	Substitution - Missense(1)	breast(1)	c.C1207G						.						103	90	94					1																	47610627		2203	4300	6503	SO:0001583	missense	284541	exon9			GATGGGCGCTCCT		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.1207C>G	1.37:g.47610627C>G	ENSP00000360958:p.Arg403Gly	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	194	173	NM_001010969	0	0	0	0	0	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.797832	0.50208	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.69175	-0.38;-0.38;-0.38	1.83	0.836	0.18891	.	0.097903	0.64402	D	0.000002	T	0.70334	0.3212	L	0.52266	1.64	0.38728	D	0.953608	D;D	0.63046	0.992;0.974	D;P	0.71414	0.973;0.793	T	0.68938	-0.5277	10	0.87932	D	0	.	4.8554	0.13557	0.2068:0.6643:0.0:0.129	.	305;403	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	G	305;403;403	ENSP00000360957:R305G;ENSP00000360958:R403G;ENSP00000294337:R403G	ENSP00000294337:R403G	R	+	1	0	CYP4A22	47383214	0.547000	0.26465	0.911000	0.35937	0.399000	0.30720	0.547000	0.23299	0.117000	0.18138	0.194000	0.17425	CGC	.		0.577	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		G	47610627	C	G	47610627	3	3	49	1	0	0	0	0	1	0	0	0	4193	768	27	2	1241	2	CYP4A22	1	47610627	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	7300825	47610627	201639994	7	10031											
RPF1	80135	broad.mit.edu;bcgsc.ca	37	chr1	84945010	84945010	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagcagcgggaagaaaagtCtaaaacggaaagccgctgcc	13	10	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:84945010C>G	ENST00000370654.5	+	1	61	c.46C>G	c.(46-48)Cta>Gta	p.L16V	RPF1_ENST00000370656.1_Missense_Mutation_p.L16V	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	16					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						GAAGAAAAGTCTAAAACGGAA	0.592																																					p.L16V		.											.	RPF1-90	0			c.C46G						.						27	28	28					1																	84945010		2203	4300	6503	SO:0001583	missense	80135	exon1			AAAAGTCTAAAAC	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.46C>G	1.37:g.84945010C>G	ENSP00000359688:p.Leu16Val	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	129	7	NM_025065	0	0	15	15	0	Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680311	0.29872	.	.	ENSG00000117133	ENST00000370656;ENST00000370654	T;T	0.46063	0.88;1.55	6.17	-4.9	0.03094	.	0.615878	0.15893	N	0.239464	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	10	0.17832	T	0.49	-4.4388	3.267	0.06869	0.0801:0.3536:0.2275:0.3387	.	16	Q9H9Y2	RPF1_HUMAN	V	16	ENSP00000359690:L16V;ENSP00000359688:L16V	ENSP00000359688:L16V	L	+	1	2	RPF1	84717598	0.000000	0.05858	0.023000	0.16930	0.658000	0.38924	-0.462000	0.06704	-0.525000	0.06391	0.655000	0.94253	CTA	.		0.592	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		G	84945010	C	G	84945010	3	3	49	1	0	0	0	0	1	0	0	0	13591	912	32	3	48	3	RPF1	1	84945010	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	37334383	84945010	164305611	8	10032											
ZNF326	284695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	90487883	90487883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatccaatagtgaaggcGcgatatgaacgttttgttaa	9	5	0	2	rs146247512	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:90487883G>A	ENST00000340281.4	+	11	1523	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	ZNF326_ENST00000370447.3_Silent_p.A371A|ZNF326_ENST00000455342.2_Silent_p.A254A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	460					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAGTGAAGGCGCGATATGAAC	0.328													g|||	5	0.000998403	0	0	5008	,	,		17575	0		0.005	False		,,,				2504	0				p.A460A		.											.	ZNF326-91	0			c.G1380A						.	A		0,4406		0,0,2203	195	215	209		1380	-10.5	0.4	1	dbSNP_134	209	11,8587	8.4+/-32.0	0,11,4288	no	coding-synonymous	ZNF326	NM_182976.2		0,11,6491	AA,AG,GG		0.1279,0.0,0.0846		460/583	90487883	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	284695	exon11			GAAGGCGCGATAT	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1380G>A	1.37:g.90487883G>A		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	170	152	NM_182976	0	0	0	24	24	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	CCDS727.1																																																																																			G|0.999;A|0.001		0.328	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		A	90487883	G	A	90487883	2	1	49	1	0	0	0	0	0	0	0	1	17894	1074	38	1		1	ZNF326	1	90487883	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	5542873	90487883	158762738	9	10033											
KCNC4	3749	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	110766300	110766300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcgtgctcaccatcGccatgccggtgcctgtcatc	12	15	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:110766300G>A	ENST00000369787.3	+	2	1420	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.A465T|KCNC4_ENST00000413138.3_Missense_Mutation_p.A465T	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	465					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTCACCATCGCCATGCCGGT	0.597																																					p.A465T		.											.	KCNC4-154	0			c.G1393A						.						111	95	100					1																	110766300		2203	4300	6503	SO:0001583	missense	3749	exon2			ACCATCGCCATGC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1393G>A	1.37:g.110766300G>A	ENSP00000358802:p.Ala465Thr	Somatic	155	1		WXS	Illumina GAIIx	Phase_I	165	42	NM_001039574	0	0	0	0	0	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928092	0.73327	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98822	-5.16;-5.16;-5.16	5.04	3.13	0.36017	Ion transport (1);	0.050209	0.85682	D	0.000000	D	0.98909	0.9630	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.99709	1.1006	10	0.87932	D	0	.	10.6741	0.45776	0.0726:0.1325:0.7949:0.0	.	465;465;465	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	T	465	ENSP00000358802:A465T;ENSP00000388029:A465T;ENSP00000393655:A465T	ENSP00000358802:A465T	A	+	1	0	KCNC4	110567823	1.000000	0.71417	0.662000	0.29724	0.835000	0.47333	9.869000	0.99810	0.623000	0.30267	0.462000	0.41574	GCC	.		0.597	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110766300	G	A	110766300	3	1	49	1	0	0	0	0	1	0	0	0	8044	1087	38	1	1399	1	KCNC4	1	110766300	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	20278417	110766300	138484321	10	10034											
KCNA3	3738	broad.mit.edu	37	chr1	111216774	111216774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactcgaagagcagccacaCctggcgctggaagtcgcggc	14	13	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:111216774C>T	ENST00000369769.2	-	1	881	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	220					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGCAGCCACACCTGGCGCTGG	0.672																																					p.V220M		.											.	KCNA3-95	0			c.G658A						.						36	44	41					1																	111216774		2196	4286	6482	SO:0001583	missense	3738	exon1			GCCACACCTGGCG	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.658G>A	1.37:g.111216774C>T	ENSP00000358784:p.Val220Met	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	81	4	NM_002232	0	0	0	0	0	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435686	0.62955	.	.	ENSG00000177272	ENST00000369769	T	0.68025	-0.3	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	T	0.68970	0.3059	L	0.48986	1.54	0.80722	D	1	P	0.48911	0.917	P	0.56788	0.806	T	0.72214	-0.4358	10	0.56958	D	0.05	.	17.82	0.88648	0.0:1.0:0.0:0.0	.	220	P22001	KCNA3_HUMAN	M	220	ENSP00000358784:V220M	ENSP00000358784:V220M	V	-	1	0	KCNA3	111018297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.978000	0.70501	2.209000	0.71365	0.561000	0.74099	GTG	.		0.672	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216774	C	T	111216774	3	4	49	1	0	0	0	0	1	0	0	0	8031	507	18	3	1073	3	KCNA3	1	111216774	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	450474	111216774	138033847	11	10035											
IGSF3	3321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	117131615	117131615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacataccagagcaccGcaaagtgggagttctggcta	13	9	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:117131615G>A	ENST00000369486.3	-	8	2906	c.2141C>T	c.(2140-2142)gCg>gTg	p.A714V	IGSF3_ENST00000369483.1_Missense_Mutation_p.A734V|IGSF3_ENST00000318837.6_Missense_Mutation_p.A734V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	714	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCAGAGCACCGCAAAGTGGGA	0.537																																					p.A734V		.											.	IGSF3-92	0			c.C2201T						.						126	115	119					1																	117131615		2203	4300	6503	SO:0001583	missense	3321	exon9			AGCACCGCAAAGT	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2141C>T	1.37:g.117131615G>A	ENSP00000358498:p.Ala714Val	Somatic	221	1		WXS	Illumina GAIIx	Phase_I	236	218	NM_001542	0	0	0	4	4	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570076	0.65765	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.66460	-0.21;-0.21;-0.21	4.31	4.31	0.51392	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.393600	0.24554	N	0.037529	T	0.59918	0.2229	L	0.29908	0.895	0.53688	D	0.999975	D;D;D	0.64830	0.992;0.992;0.994	P;P;P	0.57620	0.731;0.824;0.824	T	0.64859	-0.6308	10	0.54805	T	0.06	-30.5031	14.3102	0.66410	0.0:0.0:1.0:0.0	.	734;714;734	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	V	714;734;734	ENSP00000358498:A714V;ENSP00000358495:A734V;ENSP00000321184:A734V	ENSP00000321184:A734V	A	-	2	0	IGSF3	116933138	0.996000	0.38824	0.879000	0.34478	0.772000	0.43724	7.011000	0.76359	2.226000	0.72624	0.462000	0.41574	GCG	.		0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117131615	G	A	117131615	3	1	49	1	0	0	0	0	1	0	0	0	7628	1087	38	1	1459	1	IGSF3	1	117131615	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	5914841	117131615	132119006	12	10036											
BOLA1	51027	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	149871945	149871945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatccaggcacggaccccCgcccagtggagagagaactc	12	16	0	2	rs587688660		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:149871945C>T	ENST00000369153.2	+	3	997	c.333C>T	c.(331-333)ccC>ccT	p.P111P	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Silent_p.P111P|BOLA1_ENST00000369152.5_Silent_p.P111P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	111						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACGGACCCCCGCCCAGTGGA	0.652													C|||	1	0.000199681	0	0	5008	,	,		15045	0.001		0	False		,,,				2504	0				p.P111P		.											.	BOLA1-69	0			c.C333T						.						26	31	29					1																	149871945		2202	4300	6502	SO:0001819	synonymous_variant	51027	exon2			GACCCCCGCCCAG	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.333C>T	1.37:g.149871945C>T		Somatic	64	1		WXS	Illumina GAIIx	Phase_I	117	105	NM_016074	0	0	0	15	15	B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	CCDS939.1																																																																																			.		0.652	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		T	149871945	C	T	149871945	2	4	49	1	0	0	0	0	0	0	0	1	1487	639	23	1		1	BOLA1	1	149871945	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	32740330	149871945	99378676	13	10037											
FLG	2312	broad.mit.edu;bcgsc.ca	37	chr1	152286313	152286313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgattgtctggagctgtctGcagagtgcccatgactggct	13	10	2	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:152286313G>A	ENST00000368799.1	-	3	1084	c.1049C>T	c.(1048-1050)gCa>gTa	p.A350V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	350	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)			GGAGCTGTCTGCAGAGTGCCC	0.542									Ichthyosis																												p.A350V		.											.	FLG-106	0			c.C1049T						.						257	252	254					1																	152286313		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGTCTGCAGAGT	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.1049C>T	1.37:g.152286313G>A	ENSP00000357789:p.Ala350Val	Somatic	280	0		WXS	Illumina GAIIx	Phase_I	371	11	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.25	1.297607	0.23650	.	.	ENSG00000143631	ENST00000368799	T	0.00669	5.9	2.8	-4.04	0.04010	.	.	.	.	.	T	0.00754	0.0025	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.44952	-0.9294	9	0.40728	T	0.16	-0.253	0.6106	0.00761	0.3855:0.1967:0.2494:0.1684	.	350	P20930	FILA_HUMAN	V	350	ENSP00000357789:A350V	ENSP00000357789:A350V	A	-	2	0	FLG	150552937	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.643000	0.00405	-0.769000	0.04620	-0.498000	0.04607	GCA	.		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152286313	G	A	152286313	3	1	49	1	0	0	0	0	1	0	0	0	5944	1319	46	3	11140	3	FLG	1	152286313	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2414368	152286313	96964308	14	10038											
SPRR2G	6706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	153122484	153122484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaggaggaggcaggtaagGctcagggcacttcgggggtg	19	7	1	0	rs573005165		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:153122484G>T	ENST00000368748.4	-	2	141	c.103C>A	c.(103-105)Cct>Act	p.P35T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	35	3 X 9 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGGTAAGGCTCAGGGCAC	0.612													.|||	1	0.000199681	0	0	5008	,	,		20593	0		0.001	False		,,,				2504	0				p.P35T		.											.	SPRR2G-68	0			c.C103A						.						154	118	130					1																	153122484		2203	4300	6503	SO:0001583	missense	6706	exon2			GGTAAGGCTCAGG	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.103C>A	1.37:g.153122484G>T	ENSP00000357737:p.Pro35Thr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	76	68	NM_001014291	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368748.4	37	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	6.807	0.518033	0.13005	.	.	ENSG00000159516	ENST00000368748	T	0.53206	0.63	4.74	2.88	0.33553	.	.	.	.	.	T	0.32315	0.0825	.	.	.	0.09310	N	1	D	0.55385	0.971	P	0.49853	0.624	T	0.10917	-1.0609	8	0.87932	D	0	-1.1651	7.0195	0.24907	0.2043:0.0:0.7957:0.0	.	35	Q9BYE4	SPR2G_HUMAN	T	35	ENSP00000357737:P35T	ENSP00000357737:P35T	P	-	1	0	SPRR2G	151389108	0.018000	0.18449	0.012000	0.15200	0.019000	0.09904	1.400000	0.34577	0.627000	0.30340	-0.192000	0.12808	CCT	.		0.612	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			T	153122484	G	T	153122484	3	4	49	1	0	0	0	0	1	0	0	0	15149	1203	42	3	122	3	SPRR2G	1	153122484	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	836171	153122484	96128137	15	10039											
PBXIP1	57326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	154917581	154917583	+	In_Frame_Del	DEL	CTT	CTT	-													gggctctgtgagtgcttgtcCttcttccctgacctgtgggg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:154917581_154917583delCTT	ENST00000368463.3	-	11	2184_2186	c.2113_2115delAAG	c.(2113-2115)aagdel	p.K705del	PBXIP1_ENST00000368465.1_In_Frame_Del_p.K676del|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_In_Frame_Del_p.K550del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.K532del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	705					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTGCTTGTCCTTCTTCCCTGAC	0.616																																					p.705_705del		.											.	PBXIP1-153	0			c.2113_2115del						.																																			SO:0001651	inframe_deletion	57326	exon11			CTTGTCCTTCTTC	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2113_2115delAAG	1.37:g.154917584_154917586delCTT	ENSP00000357448:p.Lys705del	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	90	62	NM_020524	0	0	0	0	0	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	CCDS1074.1																																																																																			.		0.616	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		-	154917583	CTT	-	154917581	7	5	49	1	0	1	0	1	0	0	0	0	11535	680	24	0	84	0	PBXIP1	1	154917581	In_Frame_Del	DEL	CTT	TCGA-OR-A5LB-01A-11D-A29I-10	1795097	154917581	94333040	16	10040											
IQGAP3	128239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156498355	156498355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccttttccaggagctgaGcagcagtgtaatgaagagaa	11	9	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:156498355G>A	ENST00000361170.2	-	36	4629	c.4619C>T	c.(4618-4620)gCt>gTt	p.A1540V	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1540					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGAGCTGAGCAGCAGTGTA	0.483																																					p.A1540V		.											.	IQGAP3-96	0			c.C4619T						.						80	79	79					1																	156498355		2203	4300	6503	SO:0001583	missense	128239	exon36			AGCTGAGCAGCAG	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4619C>T	1.37:g.156498355G>A	ENSP00000354451:p.Ala1540Val	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	60	51	NM_178229	0	0	0	1	1	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312615	0.95655	.	.	ENSG00000183856	ENST00000361170	T	0.47869	0.83	4.94	4.94	0.65067	RasGAP protein, C-terminal (1);	0.059908	0.64402	D	0.000004	T	0.65133	0.2662	M	0.81802	2.56	0.58432	D	0.999995	D	0.89917	1.0	D	0.76575	0.988	T	0.68006	-0.5523	10	0.54805	T	0.06	-16.9922	16.9011	0.86114	0.0:0.0:1.0:0.0	.	1540	Q86VI3	IQGA3_HUMAN	V	1540	ENSP00000354451:A1540V	ENSP00000354451:A1540V	A	-	2	0	IQGAP3	154764979	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.468000	0.73551	2.585000	0.87301	0.591000	0.81541	GCT	.		0.483	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156498355	G	A	156498355	3	1	49	1	0	0	0	0	1	0	0	0	7843	971	34	3	288	3	IQGAP3	1	156498355	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1580774	156498355	92752266	17	10041											
KLHDC9	126823	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	161068381	161068382	+	Frame_Shift_Del	DEL	CA	CA	-													ctcaggctgggcctggaggcCagtggcgcgggacgcgcttt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:161068381_161068382delCA	ENST00000368011.4	+	1	198_199	c.56_57delCA	c.(55-57)ccafs	p.P19fs	PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000392192.2_Frame_Shift_Del_p.P19fs	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	19										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTGGAGGCCAGTGGCGCGGG	0.693																																					p.19_19del		.											.	KLHDC9-22	0			c.56_57del						.																																			SO:0001589	frameshift_variant	126823	exon1			GGAGGCCAGTGGC	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.56_57delCA	1.37:g.161068381_161068382delCA	ENSP00000356990:p.Pro19fs	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	131	113	NM_152366	0	0	0	0	0	Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Frame_Shift_Del	DEL	ENST00000368011.4	37	CCDS30919.1																																																																																			.		0.693	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		-	161068382	CA	-	161068381	7	5	49	1	0	1	0	1	0	0	0	0	8391	594	21	0	58	0	KLHDC9	1	161068381	Frame_Shift_Del	DEL	CA	TCGA-OR-A5LB-01A-11D-A29I-10	4570026	161068381	88182240	18	10042											
TNR	7143	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	175372700	175372700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatgcagccacaggaCtcaaagctaaagttgccgtg	11	10	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:175372700C>T	ENST00000367674.2	-	4	1260	c.552G>A	c.(550-552)gaG>gaA	p.E184E	TNR_ENST00000263525.2_Silent_p.E184E			Q92752	TENR_HUMAN	tenascin R	184	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCACAGGACTCAAAGCTAA	0.577																																					p.E184E		.											.	TNR-324	0			c.G552A						.						79	83	82					1																	175372700		2203	4300	6503	SO:0001819	synonymous_variant	7143	exon4			ACAGGACTCAAAG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.552G>A	1.37:g.175372700C>T		Somatic	161	2		WXS	Illumina GAIIx	Phase_I	190	162	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			.		0.577	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175372700	C	T	175372700	2	4	49	1	0	0	0	0	0	0	0	1	16385	564	20	3		3	TNR	1	175372700	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	14304319	175372700	73877921	19	10043											
TDRD5	163589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	179621206	179621206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccctttagctttataCacgacatccagtggagggcc	8	13	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:179621206C>T	ENST00000367614.1	+	13	2393	c.2034C>T	c.(2032-2034)taC>taT	p.Y678Y	TDRD5_ENST00000444136.1_Silent_p.Y678Y|TDRD5_ENST00000294848.8_Silent_p.Y678Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	678					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGCTTTATACACGACATCCA	0.418																																					p.Y678Y		.											.	TDRD5-94	0			c.C2034T						.						92	87	88					1																	179621206		2203	4300	6503	SO:0001819	synonymous_variant	163589	exon13			TTTATACACGACA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2034C>T	1.37:g.179621206C>T		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	143	127	NM_001199091	0	0	0	1	1	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	CCDS1332.1																																																																																			.		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		T	179621206	C	T	179621206	2	4	49	1	0	0	0	0	0	0	0	1	15780	489	17	3		3	TDRD5	1	179621206	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	4248506	179621206	69629415	20	10044											
CFH	3075	broad.mit.edu;bcgsc.ca	37	chr1	196659363	196659363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctactcccagatgcatcCgtgtcagtaagtacactact	6	14	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:196659363C>T	ENST00000359637.2	+	8	1200	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CFH_ENST00000439155.2_Missense_Mutation_p.R444C|CFH_ENST00000367429.4_Missense_Mutation_p.R444C			P08603	CFAH_HUMAN	complement factor H	444	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGATGCATCCGTGTCAGTAA	0.423																																					p.R444C		.											.	CFH-566	0			c.C1330T						.						107	88	95					1																	196659363		2203	4300	6503	SO:0001583	missense	3075	exon9			TGCATCCGTGTCA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1138C>T	1.37:g.196659363C>T	ENSP00000352658:p.Arg380Cys	Somatic	417	1		WXS	Illumina GAIIx	Phase_I	464	22	NM_001014975	0	0	0	0	0	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	.	10.91	1.483643	0.26598	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.74526	0.73;-0.85;-0.85	4.52	3.6	0.41247	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	D	0.85767	0.5773	M	0.89095	3.005	0.09310	N	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	P;D;P;D	0.65987	0.73;0.94;0.693;0.911	T	0.75673	-0.3236	9	0.37606	T	0.19	.	10.7957	0.46459	0.0:0.809:0.191:0.0	.	380;444;444;444	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	444;444;444;380	ENSP00000356399:R444C;ENSP00000402656:R444C;ENSP00000352658:R380C	ENSP00000352658:R380C	R	+	1	0	CFH	194925986	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.502000	0.22594	1.493000	0.48517	0.655000	0.94253	CGT	.		0.423	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		T	196659363	C	T	196659363	3	4	49	1	0	0	0	0	1	0	0	0	3290	652	23	1	1364	1	CFH	1	196659363	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	17038157	196659363	52591258	21	10045											
F13B	2165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197031011	197031011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttttgtaccctgaagcGcaaccataacgcatgttctc	9	11	1	1	rs142562955		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:197031011G>A	ENST00000367412.1	-	3	397	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	118	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.C118C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACCCTGAAGCGCAACCATAAC	0.403													g|||	1	0.000199681	0	0	5008	,	,		15590	0.001		0	False		,,,				2504	0				p.C118C		.											.	F13B-92	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C354T						.	A		1,4405	2.1+/-5.4	0,1,2202	133	111	118		354	-2.1	0	1	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	F13B	NM_001994.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		118/662	197031011	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2165	exon3			TGAAGCGCAACCA	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.354C>T	1.37:g.197031011G>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	108	94	NM_001994	0	0	0	0	0	A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	CCDS1388.1																																																																																			G|1.000;A|0.000		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		A	197031011	G	A	197031011	2	1	49	1	0	0	0	0	0	0	0	1	5357	1079	38	1		1	F13B	1	197031011	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	371648	197031011	52219610	22	10046											
NUAK2	81788	ucsc.edu;bcgsc.ca	37	chr1	205273536	205273536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcctcctgctctcccactCgggtggcgtagccccagttg	12	16	1	0	rs200627742		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:205273536C>T	ENST00000367157.3	-	7	1055	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCTCCCACTCGGGTGGCGTA	0.692													C|||	1	0.000199681	0	0	5008	,	,		16492	0		0	False		,,,				2504	0.001				p.R310Q		.											.	NUAK2-391	0			c.G929A						.	C	GLN/ARG	1,4401		0,1,2200	17	19	18		929	0.9	0.1	1		18	1,8591		0,1,4295	yes	missense	NUAK2	NM_030952.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	benign	310/629	205273536	2,12992	2201	4296	6497	SO:0001583	missense	81788	exon7			CCCACTCGGGTGG	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.929G>A	1.37:g.205273536C>T	ENSP00000356125:p.Arg310Gln	Somatic	178	3		WXS	Illumina GAIIx	Phase_I	212	191	NM_030952	0	0	0	3	3		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	6.765	0.510045	0.12883	2.27E-4	1.16E-4	ENSG00000163545	ENST00000367157	T	0.37752	1.18	5.12	0.868	0.19090	Protein kinase-like domain (1);	0.728198	0.11873	N	0.521230	T	0.20901	0.0503	L	0.40543	1.245	0.09310	N	1	P	0.34412	0.453	B	0.18871	0.023	T	0.12682	-1.0538	10	0.22706	T	0.39	.	6.1815	0.20474	0.0:0.2935:0.4245:0.282	.	310	Q9H093	NUAK2_HUMAN	Q	310	ENSP00000356125:R310Q	ENSP00000356125:R310Q	R	-	2	0	NUAK2	203540159	0.015000	0.18098	0.080000	0.20451	0.058000	0.15608	0.044000	0.13992	0.178000	0.19917	0.511000	0.50034	CGA	.		0.692	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		T	205273536	C	T	205273536	3	4	49	1	0	0	0	0	1	0	0	0	10752	884	31	1	961	1	NUAK2	1	205273536	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	8242525	205273536	43977085	23	10047											
SLC41A1	254428	broad.mit.edu;bcgsc.ca	37	chr1	205760791	205760791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttgtccgggtccaggCcccggccccacatccagtgc	12	16	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:205760791C>T	ENST00000367137.3	-	11	2426	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	471					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGGGTCCAGGCCCCGGCCCCA	0.582											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G471D		.											.	SLC41A1-92	0			c.G1412A						.						53	54	53					1																	205760791		2203	4300	6503	SO:0001583	missense	254428	exon11			TCCAGGCCCCGGC	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1412G>A	1.37:g.205760791C>T	ENSP00000356105:p.Gly471Asp	Somatic	229	0	2154	WXS	Illumina GAIIx	Phase_I	248	8	NM_173854	0	0	7	7	0	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579470	0.65878	.	.	ENSG00000133065	ENST00000367137	T	0.36699	1.24	5.65	5.65	0.86999	MgtE magnesium transporter, integral membrane (1);	0.054624	0.64402	D	0.000001	T	0.41282	0.1152	M	0.71581	2.175	0.58432	D	0.999999	B	0.19445	0.036	B	0.27076	0.076	T	0.21177	-1.0253	10	0.36615	T	0.2	-33.2432	13.953	0.64131	0.0:0.9252:0.0:0.0748	.	471	Q8IVJ1	S41A1_HUMAN	D	471	ENSP00000356105:G471D	ENSP00000356105:G471D	G	-	2	0	SLC41A1	204027414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.093000	0.71422	2.651000	0.90000	0.655000	0.94253	GGC	.		0.582	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			T	205760791	C	T	205760791	3	4	49	1	0	0	0	0	1	0	0	0	14674	739	26	3	133	3	SLC41A1	1	205760791	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	487255	205760791	43489830	24	10048											
MIA3	375056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	222803533	222803534	+	Frame_Shift_Ins	INS	-	-	A													acaaattctgagcatagcagINSaaaaaatgcttgatactcgt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:222803533_222803534insA	ENST00000344922.5	+	4	2996_2997	c.2971_2972insA	c.(2971-2973)gaafs	p.E991fs	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Frame_Shift_Ins_p.E991fs	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	991					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)		GAGCATAGCAGAAAAAATGCTT	0.421																																					p.E991fs		.											.	MIA3-98	0			c.2971_2972insA						.																																			SO:0001589	frameshift_variant	375056	exon4			ATAGCAGAAAAAA		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.2977dupA	1.37:g.222803539_222803539dupA	ENSP00000340900:p.Glu991fs	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	119	96	NM_198551	0	0	0	0	0	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Ins	INS	ENST00000344922.5	37	CCDS41470.1																																																																																			.		0.421	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		A	222803534	-	A	222803533	7	5	49	1	0	1	1	0	0	0	0	0	9603	943	33	0	2985	0	MIA3	1	222803533	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	17042742	222803533	26447088	25	10049											
PCNXL2	80003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	233135059	233135059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccgcgctccggattgcGgttgcgaagaaatataagct	12	10	0	1	rs201746355		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr1:233135059G>A	ENST00000258229.9	-	31	5629	c.5395C>T	c.(5395-5397)Cgc>Tgc	p.R1799C	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R451C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1799						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)				TCCGGATTGCGGTTGCGAAGA	0.552																																					p.R1799C		.											.	PCNXL2-91	0			c.C5395T						.	G	CYS/ARG	1,3859		0,1,1929	35	36	36		5395	3.8	1	1		36	0,8268		0,0,4134	yes	missense	PCNXL2	NM_014801.3	180	0,1,6063	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging	1799/2138	233135059	1,12127	1930	4134	6064	SO:0001583	missense	80003	exon31			GATTGCGGTTGCG	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.5395C>T	1.37:g.233135059G>A	ENSP00000258229:p.Arg1799Cys	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	98	35	NM_014801	0	0	2	5	3	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012825	0.75161	2.59E-4	0.0	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.49720	0.77;0.77	5.66	3.81	0.43845	.	0.102031	0.64402	D	0.000001	T	0.70868	0.3273	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75178	-0.3409	10	0.87932	D	0	.	12.3484	0.55134	0.1365:0.0:0.8635:0.0	.	1799;451	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	C	451;1799	ENSP00000340759:R451C;ENSP00000258229:R1799C	ENSP00000258229:R1799C	R	-	1	0	PCNXL2	231201682	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	7.640000	0.83355	0.762000	0.33152	0.555000	0.69702	CGC	.		0.552	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233135059	G	A	233135059	3	1	49	1	0	0	0	0	1	0	0	0	11631	1116	39	1	1034	1	PCNXL2	1	233135059	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	10331526	233135059	16115562	26	10050											
TAF1B	9014	hgsc.bcm.edu;bcgsc.ca	37	chr2	10059788	10059788	+	Frame_Shift_Del	DEL	A	A	-													gagtcaacagcaactgctggAaaaaaaagcccttcaagttt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:10059788delA	ENST00000263663.5	+	14	1592	c.1404delA	c.(1402-1404)ggafs	p.G468fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	468					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACTGCTGGAAAAAAAAGCC	0.418																																					p.G468fs		.											.	TAF1B-92	0			c.1404delA						.						76	73	74					2																	10059788		2203	4300	6503	SO:0001589	frameshift_variant	9014	exon14			TGCTGGAAAAAAA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1404delA	2.37:g.10059788delA	ENSP00000263663:p.Gly468fs	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	164	33	NM_005680	0	0	0	0	0	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	CCDS33143.1																																																																																			.		0.418	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		-	10059788	A	-	10059788	7	5	49	1	0	1	0	1	0	0	0	0	15567	233	9	0	1458	0	TAF1B	2	10059788	Frame_Shift_Del	DEL	A	TCGA-OR-A5LB-01A-11D-A29I-10		10059788	233139585	27	10051											
GRHL1	29841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	10105471	10105471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgaggagattgcgtataaCgccatttccttcacatggga	10	9	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:10105471C>T	ENST00000324907.9	+	8	1207	c.1071C>T	c.(1069-1071)aaC>aaT	p.N357N	GRHL1_ENST00000405379.2_Silent_p.N357N|GRHL1_ENST00000324883.5_Silent_p.N168N	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	357					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTGCGTATAACGCCATTTCCT	0.448																																					p.N357N		.											.	GRHL1-92	0			c.C1071T						.						145	138	141					2																	10105471		2203	4300	6503	SO:0001819	synonymous_variant	29841	exon8			GTATAACGCCATT	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1071C>T	2.37:g.10105471C>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	73	67	NM_198182	0	0	0	0	0	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	37	CCDS33144.2																																																																																			.		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		T	10105471	C	T	10105471	2	4	49	1	0	0	0	0	0	0	0	1	6790	535	19	1		1	GRHL1	2	10105471	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	45683	10105471	233093902	28	10052											
C1D	10438	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	68270087	68270088	+	Frame_Shift_Ins	INS	-	-	T													attttggttcccagagggcaINSttttttacaaatcttgaagc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:68270087_68270088insT	ENST00000355848.3	-	5	406_407	c.359_360insA	c.(358-360)aatfs	p.N120fs	C1D_ENST00000409302.1_Frame_Shift_Ins_p.N120fs|C1D_ENST00000410067.3_Frame_Shift_Ins_p.N120fs|C1D_ENST00000407324.1_Frame_Shift_Ins_p.N159fs			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	120	Interaction with NCOR1 and NCOR2. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						CCCAGAGGGCATTTTTTACAAA	0.347																																					p.N120fs		.											.	C1D-186	0			c.360_361insA						.																																			SO:0001589	frameshift_variant	10438	exon6			GAGGGCATTTTTT		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"small unique nuclear receptor co-repressor"	606997	"C1D nuclear receptor co-repressor"			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.360dupA	2.37:g.68270093_68270093dupT	ENSP00000348107:p.Asn120fs	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	104	35	NM_001190263	0	0	0	0	0	A8K336|D6W5F8|Q05D64	Frame_Shift_Ins	INS	ENST00000355848.3	37	CCDS1883.1																																																																																			.		0.347	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		T	68270088	-	T	68270087	7	5	49	1	0	1	1	0	0	0	0	0	1958	214	8	0	69	0	C1D	2	68270087	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	58164616	68270087	174929286	29	10053											
SMYD5	10322	broad.mit.edu	37	chr2	73441441	73441442	+	Frame_Shift_Ins	INS	-	-	GG													tccttctgcgtgggcgtggcINSgggccgcgcgcgggtctccg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:73441441_73441442insGG	ENST00000389501.4	+	1	92_93	c.47_48insGG	c.(46-51)gcgggcfs	p.AG16fs		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	16							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGGCGTGGCGGGCCGCGCGC	0.698																																					p.A16fs		.											.	SMYD5-226	0			c.47_48insGG						.																																			SO:0001589	frameshift_variant	10322	exon1			GCGTGGCGGGCCG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.48_49dupGG	2.37:g.73441442_73441443dupGG	ENSP00000374152:p.Ala16fs	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	152	11	NM_006062	0	0	0	0	0	D6W5H3|Q13558	Frame_Shift_Ins	INS	ENST00000389501.4	37	CCDS33221.2																																																																																			.		0.698	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		GG	73441442	-	GG	73441441	7	5	49	1	0	1	1	0	0	0	0	0	14870	768	27	0	49	0	SMYD5	2	73441441	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	5171354	73441441	169757932	30	10054											
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	74779681	74779681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcccgtggaaggggaCggagaccccaagcacgaact	15	12	1	1	rs376297326		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:74779681C>T	ENST00000264094.3	-	2	152	c.81G>A	c.(79-81)ccG>ccA	p.P27P	LOXL3_ENST00000393937.2_Silent_p.P27P|LOXL3_ENST00000409549.1_Silent_p.P27P|LOXL3_ENST00000409986.1_Silent_p.P27P|DOK1_ENST00000409429.1_Intron|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Silent_p.P27P|DOK1_ENST00000340004.6_5'Flank	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	27					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGGAAGGGGACGGAGACCCCA	0.682																																					p.P27P		.											.	LOXL3-226	0			c.G81A						.	C	,	0,4398		0,0,2199	13	14	14		,81	-9.2	0.1	2		14	1,8591		0,1,4295	no	intron,coding-synonymous	DOK1,LOXL3	NM_001197260.1,NM_032603.2	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	,27/754	74779681	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	84695	exon2			AGGGGACGGAGAC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.81G>A	2.37:g.74779681C>T		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	175	16	NM_032603	0	0	0	0	0	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	CCDS1953.1																																																																																			.		0.682	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		T	74779681	C	T	74779681	2	4	49	1	0	0	0	0	0	0	0	1	8936	523	19	1		1	LOXL3	2	74779681	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1338240	74779681	168419692	31	10055											
HK2	3099	ucsc.edu;bcgsc.ca	37	chr2	75105940	75105940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgctccgccagcctgtGcgcagccaccctggccgccg	11	21	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:75105940G>A	ENST00000290573.2	+	9	1757	c.1157G>A	c.(1156-1158)tGc>tAc	p.C386Y	HK2_ENST00000409174.1_Missense_Mutation_p.C358Y	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	386	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCCAGCCTGTGCGCAGCCACC	0.642																																					p.C386Y		.											.	HK2-252	0			c.G1157A						.						16	13	14					2																	75105940		2176	4250	6426	SO:0001583	missense	3099	exon9			GCCTGTGCGCAGC		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.1157G>A	2.37:g.75105940G>A	ENSP00000290573:p.Cys386Tyr	Somatic	142	2		WXS	Illumina GAIIx	Phase_I	346	133	NM_000189	0	0	0	0	0	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836638	0.71373	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96774	-4.12;-4.12	4.65	4.65	0.58169	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.97580	1.0110	10	0.87932	D	0	-15.9228	15.404	0.74863	0.0:0.0:1.0:0.0	.	386	P52789	HXK2_HUMAN	Y	386;386;358	ENSP00000290573:C386Y;ENSP00000387140:C358Y	ENSP00000290573:C386Y	C	+	2	0	HK2	74959448	0.996000	0.38824	0.986000	0.45419	0.912000	0.54170	2.320000	0.43797	2.567000	0.86603	0.655000	0.94253	TGC	.		0.642	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		A	75105940	G	A	75105940	3	1	49	1	0	0	0	0	1	0	0	0	7218	1319	46	3	1191	3	HK2	2	75105940	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	326259	75105940	168093433	32	10056											
CAPG	822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	85628351	85628351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagttcagtgcccgctcGgtggcacggatgttcttctt	11	13	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:85628351G>A	ENST00000409921.1	-	5	519	c.453C>T	c.(451-453)acC>acT	p.T151T	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Silent_p.T151T|CAPG_ENST00000409670.1_Silent_p.T151T|CAPG_ENST00000409724.1_Silent_p.T151T			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	887					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GTGCCCGCTCGGTGGCACGGA	0.582																																					p.T151T		.											.	CAPG-204	0			c.C453T						.						179	170	173					2																	85628351		2203	4300	6503	SO:0001819	synonymous_variant	822	exon5			CCGCTCGGTGGCA	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.453C>T	2.37:g.85628351G>A		Somatic	195	0		WXS	Illumina GAIIx	Phase_I	183	161	NM_001256140	0	0	5	5	0	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	CCDS58715.1																																																																																			.		0.582	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		A	85628351	G	A	85628351	2	1	49	1	0	0	0	0	0	0	0	1	2628	1103	39	1		1	CAPG	2	85628351	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	10522411	85628351	157571022	33	10057											
CAPG	822	ucsc.edu;bcgsc.ca	37	chr2	85628769	85628769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtgcacagccagcacGgcacaggccccctgctcatc	11	16	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:85628769G>A	ENST00000409921.1	-	4	300	c.234C>T	c.(232-234)gcC>gcT	p.A78A	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Silent_p.A78A|CAPG_ENST00000409670.1_Silent_p.A78A|CAPG_ENST00000409724.1_Silent_p.A78A			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A78A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGCCAGCACGGCACAGGCCC	0.652																																					p.A78A		.											.	CAPG-204	1	Substitution - coding silent(1)	lung(1)	c.C234T						.						41	42	42					2																	85628769		2203	4300	6503	SO:0001819	synonymous_variant	822	exon4			CAGCACGGCACAG	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.234C>T	2.37:g.85628769G>A		Somatic	113	2		WXS	Illumina GAIIx	Phase_I	141	123	NM_001256140	0	0	5	5	0	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	CCDS58715.1																																																																																			.		0.652	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		A	85628769	G	A	85628769	2	1	49	1	0	0	0	0	0	0	0	1	2628	1103	39	1		1	CAPG	2	85628769	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	418	85628769	157570604	34	10058											
ZAP70	7535	broad.mit.edu	37	chr2	98354472	98354472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagatgaaagggccGgaggtcatggccttcatcga	15	8	2	3	rs115143372	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:98354472G>A	ENST00000264972.5	+	13	1853	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	ZAP70_ENST00000442208.1_Silent_p.P420P|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.P239P	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TGAAAGGGCCGGAGGTCATGG	0.607													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		17959	0		0	False		,,,				2504	0				p.P546P		.											.	ZAP70-955	0			c.G1638A						.	G	,	12,4394	19.1+/-41.9	0,12,2191	68	69	69		1638,717	-9.9	0.7	2	dbSNP_133	69	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ZAP70	NM_001079.3,NM_207519.1	,	0,12,6490	AA,AG,GG		0.0,0.2724,0.0923	,	546/620,239/313	98354472	12,12992	2203	4299	6502	SO:0001819	synonymous_variant	7535	exon13			AGGGCCGGAGGTC	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.1638G>A	2.37:g.98354472G>A		Somatic	223	0		WXS	Illumina GAIIx	Phase_I	194	4	NM_001079	0	0	0	0	0	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	CCDS33254.1																																																																																			G|0.999;A|0.001		0.607	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98354472	G	A	98354472	2	1	49	1	0	0	0	0	0	0	0	1	17563	1103	39	1		1	ZAP70	2	98354472	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	12725703	98354472	144844901	35	10059											
NPHP1	4867	broad.mit.edu;bcgsc.ca	37	chr2	110962528	110962528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctggagaggatctcgCtgtcgtctcgccagcatctc	13	13	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:110962528C>T	ENST00000393272.3	-	1	115	c.18G>A	c.(16-18)caG>caA	p.Q6Q	NPHP1_ENST00000316534.4_Silent_p.Q6Q|NPHP1_ENST00000445609.2_Silent_p.Q6Q|NPHP1_ENST00000418527.1_Silent_p.Q6Q|NPHP1_ENST00000355301.4_Silent_p.Q6Q|NPHP1_ENST00000417665.1_Silent_p.Q6Q	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	6					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGGATCTCGCTGTCGTCTCG	0.667																																					p.Q6Q		.											.	NPHP1-92	0			c.G18A						.						43	43	43					2																	110962528		2203	4300	6503	SO:0001819	synonymous_variant	4867	exon1			ATCTCGCTGTCGT	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.18G>A	2.37:g.110962528C>T		Somatic	89	2		WXS	Illumina GAIIx	Phase_I	183	62	NM_207181	0	0	5	8	3	O14837	Silent	SNP	ENST00000393272.3	37	CCDS46385.1																																																																																			.		0.667	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		T	110962528	C	T	110962528	2	4	49	1	0	0	0	0	0	0	0	1	10618	796	28	3		3	NPHP1	2	110962528	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	12608056	110962528	132236845	36	10060											
ERCC3	2071	hgsc.bcm.edu;bcgsc.ca	37	chr2	128046943	128046944	+	In_Frame_Ins	INS	-	-	TCT													caaaagacactgtctgtgtcINStcttcttcttcttcttcatc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:128046943_128046944insTCT	ENST00000285398.2	-	6	885_886	c.791_792insAGA	c.(790-792)gag>gaAGAg	p.264_264E>EE	ERCC3_ENST00000493187.2_In_Frame_Ins_p.200_200E>EE	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	264	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGTCTGTGTCTCTTCTTCTTC	0.47			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E264delinsEE		.	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	.	ERCC3-723	0			c.792_793insAGA						.																																			SO:0001652	inframe_insertion	2071	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTGTGTCTCTTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.792_794dupAGA	2.37:g.128046950_128046952dupTCT	ENSP00000285398:p.Glu264dup	Somatic	248	0		WXS	Illumina GAIIx	Phase_I	305	196	NM_000122	0	0	0	0	0	Q53QM0	In_Frame_Ins	INS	ENST00000285398.2	37	CCDS2144.1																																																																																			.		0.47	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		TCT	128046944	-	TCT	128046943	7	5	49	1	0	1	1	0	0	0	0	0	5230	912	32	0	1596	0	ERCC3	2	128046943	In_Frame_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	17084415	128046943	115152430	37	10061											
YSK4	80122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	135738728	135738728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattattccagttggcaTgagcataacattatttcctt	5	8	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:135738728T>C	ENST00000375845.3	-	9	3613	c.3583A>G	c.(3583-3585)Atg>Gtg	p.M1195V	MAP3K19_ENST00000375844.3_Missense_Mutation_p.M377V|MAP3K19_ENST00000392917.3_Missense_Mutation_p.M327V|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M1082V|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.M329V|MAP3K19_ENST00000315513.3_Missense_Mutation_p.M56V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CCAGTTGGCATGAGCATAACA	0.428																																					p.M1195V		.											.	.	0			c.A3583G						.						134	131	132					2																	135738728		2203	4300	6503	SO:0001583	missense	80122	exon9			TTGGCATGAGCAT	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3583A>G	2.37:g.135738728T>C	ENSP00000365005:p.Met1195Val	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	56	51	NM_025052	0	0	0	0	0	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566360	0.45694	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.88	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	T	0.23926	0.0579	N	0.10645	0.015	0.41287	D	0.986955	B;P;B;B;P	0.44380	0.145;0.811;0.274;0.274;0.834	B;P;B;B;P	0.54544	0.069;0.554;0.122;0.122;0.755	T	0.12268	-1.0554	10	0.87932	D	0	.	10.6739	0.45774	0.0:0.0739:0.0:0.9261	.	327;1082;329;377;1195	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	V	1195;1082;377;329;327;585;56	ENSP00000365005:M1195V;ENSP00000351140:M1082V;ENSP00000365004:M377V;ENSP00000376650:M329V;ENSP00000376649:M327V;ENSP00000392827:M585V;ENSP00000321160:M56V	ENSP00000321160:M56V	M	-	1	0	YSK4	135455198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.246000	0.74042	0.533000	0.62120	ATG	.		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		C	135738728	T	C	135738728	3	2	49	1	0	0	0	0	1	0	0	0	17544	1464	51	4	411	4	YSK4	2	135738728	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	7691785	135738728	107460645	38	10062											
PLA2R1	22925	bcgsc.ca	37	chr2	160869814	160869814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaggacagtaataacCgctggaagcttggtcaaagc	13	8	1	0	rs530179642		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:160869814C>T	ENST00000283243.7	-	10	1830	c.1624G>A	c.(1624-1626)Ggt>Agt	p.G542S	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G542S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	542	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.G542S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTAATAACCGCTGGAAGCT	0.388																																					p.G542S		.											.	PLA2R1-93	1	Substitution - Missense(1)	large_intestine(1)	c.G1624A						.						123	121	121					2																	160869814		2203	4300	6503	SO:0001583	missense	22925	exon10			AATAACCGCTGGA	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1624G>A	2.37:g.160869814C>T	ENSP00000283243:p.Gly542Ser	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	70	4	NM_001195641	0	0	3	3	0	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203806	0.95033	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.06768	3.3;3.26	5.26	5.26	0.73747	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	M	0.71036	2.16	0.58432	D	0.999998	P;D;D	0.89917	0.635;1.0;1.0	B;D;D	0.97110	0.36;1.0;1.0	T	0.01397	-1.1365	10	0.22109	T	0.4	.	19.2342	0.93851	0.0:1.0:0.0:0.0	.	542;542;542	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	S	542	ENSP00000283243:G542S;ENSP00000376524:G542S	ENSP00000283243:G542S	G	-	1	0	PLA2R1	160578060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.274000	0.65569	2.608000	0.88229	0.650000	0.86243	GGT	.		0.388	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			T	160869814	C	T	160869814	3	4	49	1	0	0	0	0	1	0	0	0	12049	652	23	1	2859	1	PLA2R1	2	160869814	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	25131086	160869814	82329559	39	10063											
SLC40A1	30061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	190430180	190430180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccttccagagcagaacGtactccacgcacatggatac	7	13	0	2	rs368843037		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:190430180G>A	ENST00000261024.2	-	6	1086	c.660C>T	c.(658-660)taC>taT	p.Y220Y		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	220					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAGCAGAACGTACTCCACGC	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		19656	0		0	False		,,,				2504	0				p.Y220Y		.											.	SLC40A1-91	0			c.C660T						.						90	87	88					2																	190430180		2203	4300	6503	SO:0001819	synonymous_variant	30061	exon6			CAGAACGTACTCC	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.660C>T	2.37:g.190430180G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	130	106	NM_014585	0	0	0	0	0	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	CCDS2299.1																																																																																			.		0.473	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			A	190430180	G	A	190430180	2	1	49	1	0	0	0	0	0	0	0	1	14673	1140	40	1		1	SLC40A1	2	190430180	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	29560366	190430180	52769193	40	10064											
ORMDL1	94101	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	190640321	190640321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaattgtgaaaaacttcCgtgaagatgtaaactgtact	9	5	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:190640321C>T	ENST00000325795.3	-	2	1082	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ORMDL1_ENST00000409519.1_Missense_Mutation_p.R99Q|ORMDL1_ENST00000496543.1_5'Flank|ORMDL1_ENST00000392350.3_Missense_Mutation_p.R99Q|ORMDL1_ENST00000392349.4_Missense_Mutation_p.R99Q			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	99					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GAAAAACTTCCGTGAAGATGT	0.393																																					p.R99Q		.											.	ORMDL1-68	0			c.G296A						.						90	88	88					2																	190640321		2203	4300	6503	SO:0001583	missense	94101	exon4			AACTTCCGTGAAG		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"ORM1 (S. cerevisiae)-like 1", "ORM1-like 1 (S. cerevisiae)"			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.296G>A	2.37:g.190640321C>T	ENSP00000326869:p.Arg99Gln	Somatic	64	1		WXS	Illumina GAIIx	Phase_I	69	20	NM_016467	0	0	26	37	11	B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349;ENST00000409519;ENST00000442547;ENST00000458355	.	.	.	4.84	4.84	0.62591	.	0.057350	0.64402	D	0.000002	T	0.70002	0.3174	M	0.91038	3.17	0.58432	D	0.999996	P	0.36944	0.574	B	0.31869	0.137	T	0.78904	-0.2020	9	0.72032	D	0.01	-3.6348	18.1158	0.89555	0.0:1.0:0.0:0.0	.	99	Q9P0S3	ORML1_HUMAN	Q	99	.	ENSP00000326869:R99Q	R	-	2	0	ORMDL1	190348566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.498000	0.84270	0.655000	0.94253	CGG	.		0.393	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		T	190640321	C	T	190640321	3	4	49	1	0	0	0	0	1	0	0	0	11308	652	23	1	173	1	ORMDL1	2	190640321	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	210141	190640321	52559052	41	10065											
SPEG	10290	broad.mit.edu	37	chr2	220354177	220354177	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctagctcctgctgcccccAcacccccgtcagtcactgtc	6	22	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:220354177A>C	ENST00000312358.7	+	36	8569	c.8437A>C	c.(8437-8439)Aca>Cca	p.T2813P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2813	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCCCCCACACCCCCGTC	0.677																																					p.T2813P		.											.	SPEG-383	0			c.A8437C						.						29	31	30					2																	220354177		1883	4090	5973	SO:0001583	missense	10290	exon36			GCCCCCACACCCC	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.8437A>C	2.37:g.220354177A>C	ENSP00000311684:p.Thr2813Pro	Somatic	26	2		WXS	Illumina GAIIx	Phase_I	28	3	NM_005876	0	0	0	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.463061	0.01062	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63255	-0.03	4.51	3.62	0.41486	.	2.709530	0.01798	N	0.032721	T	0.44030	0.1274	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	10	0.22706	T	0.39	.	7.5344	0.27702	0.2568:0.0:0.7432:0.0	.	2813	Q15772	SPEG_HUMAN	P	2813	ENSP00000311684:T2813P	ENSP00000265327:T2813P	T	+	1	0	SPEG	220062421	0.000000	0.05858	0.045000	0.18777	0.027000	0.11550	0.254000	0.18314	1.108000	0.41662	-0.474000	0.04947	ACA	.		0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		C	220354177	A	C	220354177	3	2	49	1	0	0	0	0	1	0	0	0	15083	159	6	5	8591	5	SPEG	2	220354177	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	29713856	220354177	22845196	42	10066											
DNAJB3	54578	hgsc.bcm.edu;bcgsc.ca	37	chr2	234652188	234652188	+	Intron	DEL	C	C	-													ttccccagcagttcctctgaCccccccaaaatattctccag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:234652188delC	ENST00000305139.6	+	2	1000				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GTTCCTCTGACCCCCCCAAAA	0.542																																					p.G125fs		.											.	.	0			c.375delG						.		,,,,,,,,,	69,2,3419		3,0,63,0,2,1677	28	33	32		,,,,,,,,,	-2	0	2		32	8,5,7789		0,0,8,0,5,3888	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,codingComplex	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3,DNAJB3	NM_205862.1,NM_021027.2,NM_019093.2,NM_019078.1,NM_019077.2,NM_019076.4,NM_019075.2,NM_007120.2,NM_001072.3,NM_001001394.3	,,,,,,,,,	3,0,71,0,7,5565	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1666,2.0344,0.7439	,,,,,,,,,	,,,,,,,,,	234652188	77,7,11208	1815	4071	5886	SO:0001627	intron_variant	414061	exon1			CTCTGACCCCCCC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23492C>-	2.37:g.234652188delC		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	74	61	NM_001001394	0	0	0	0	0	A6NKK6|B8K289|Q96TE7	Frame_Shift_Del	DEL	ENST00000305139.6	37	CCDS2507.1																																																																																			.		0.542	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		-	234652188	C	-	234652188	6	5	49	0	1	1	0	1	0	0	0	0	4635	494	18	0		0	DNAJB3	2	234652188	Intron	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	14298011	234652188	8547185	43	10067											
SH3BP4	23677	broad.mit.edu	37	chr2	235949696	235949696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggtgagtggtggtacGcacacaacaccaccgaaatg	13	11	0	1	rs199774203	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:235949696G>A	ENST00000409212.1	+	4	790	c.283G>A	c.(283-285)Gca>Aca	p.A95T	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A95T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A95T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	95	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTGGTGGTACGCACACAACAC	0.522													G|||	2	0.000399361	8e-04	0	5008	,	,		19078	0		0	False		,,,				2504	0.001				p.A95T		.											.	SH3BP4-94	0			c.G283A						.						173	143	153					2																	235949696		2203	4300	6503	SO:0001583	missense	23677	exon4			TGGTACGCACACA	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.283G>A	2.37:g.235949696G>A	ENSP00000386862:p.Ala95Thr	Somatic	277	1		WXS	Illumina GAIIx	Phase_I	305	10	NM_014521	0	0	11	11	0	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	35	5.426166	0.96131	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.44	5.44	0.79542	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82886	-0.0235	10	0.87932	D	0	-6.9209	17.8307	0.88682	0.0:0.0:1.0:0.0	.	95;95	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	95	ENSP00000375867:A95T;ENSP00000403251:A95T;ENSP00000386862:A95T;ENSP00000340237:A95T;ENSP00000415391:A95T	ENSP00000340237:A95T	A	+	1	0	SH3BP4	235614435	1.000000	0.71417	0.660000	0.29694	0.778000	0.44026	9.549000	0.98106	2.549000	0.85964	0.655000	0.94253	GCA	G|0.999;A|0.000		0.522	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235949696	G	A	235949696	3	1	49	1	0	0	0	0	1	0	0	0	14291	1087	38	1	289	1	SH3BP4	2	235949696	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1297508	235949696	7249677	44	10068											
ANO7	50636	bcgsc.ca	37	chr2	242148703	242148703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctccctgccacaggccGgccggctgttcgaccacggc	12	20	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr2:242148703G>A	ENST00000274979.8	+	12	1346	c.1243G>A	c.(1243-1245)Ggc>Agc	p.G415S	ANO7_ENST00000402430.3_Missense_Mutation_p.G414S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	415					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						GCCACAGGCCGGCCGGCTGTT	0.637																																					p.G415S		.											.	ANO7-92	0			c.G1243A						.						12	12	12					2																	242148703		2162	4236	6398	SO:0001583	missense	50636	exon12			CAGGCCGGCCGGC	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.1243G>A	2.37:g.242148703G>A	ENSP00000274979:p.Gly415Ser	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	63	4	NM_001001891	0	0	0	0	0	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192204	0.06259	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.61392	0.11;0.11	3.33	2.43	0.29744	.	0.913380	0.09231	N	0.830557	T	0.38639	0.1048	N	0.12502	0.225	0.46185	D	0.998911	P	0.49696	0.927	P	0.46076	0.503	T	0.31166	-0.9953	10	0.02654	T	1	.	9.6434	0.39853	0.1117:0.0:0.8883:0.0	.	415	Q6IWH7	ANO7_HUMAN	S	415;414	ENSP00000274979:G415S;ENSP00000385418:G414S	ENSP00000274979:G415S	G	+	1	0	ANO7	241797376	0.998000	0.40836	0.964000	0.40570	0.386000	0.30323	2.656000	0.46716	0.367000	0.24454	0.313000	0.20887	GGC	.		0.637	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242148703	G	A	242148703	3	1	49	1	0	0	0	0	1	0	0	0	702	1116	39	1	1361	1	ANO7	2	242148703	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	6199007	242148703	1050670	45	10069											
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9516182	9516182	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggagggagcatccccAaggtcctccgaagcagcgtg	15	11	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:9516182A>T	ENST00000406341.1	+	20	3737	c.3547A>T	c.(3547-3549)Aag>Tag	p.K1183*	SETD5_ENST00000402198.1_Nonsense_Mutation_p.K1183*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.K1202*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.K1085*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.K1085*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1183	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAGCATCCCCAAGGTCCTCCG	0.542																																					p.K1183X		.											.	SETD5-70	0			c.A3547T						.						104	102	102					3																	9516182		2062	4206	6268	SO:0001587	stop_gained	55209	exon21			ATCCCCAAGGTCC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3547A>T	3.37:g.9516182A>T	ENSP00000383939:p.Lys1183*	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	105	86	NM_001080517	0	0	4	31	27	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	47|47	13.401307|13.401307	0.99740|0.99740	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.066998|.	0.64402|.	D|.	0.000008|.	.|T	.|0.55305	.|0.1912	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65553	.|-0.6140	.|3	0.02654|.	T|.	1|.	-18.0164|-18.0164	10.4568|10.4568	0.44555|0.44555	0.9273:0.0:0.0727:0.0|0.9273:0.0:0.0727:0.0	.|.	.|.	.|.	.|.	X|L	1183;1085;1183;1202;1085|850	.|.	ENSP00000302028:K1085X|.	K|Q	+|+	1|2	0|0	SETD5|SETD5	9491182|9491182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	3.429000|3.429000	0.52800|0.52800	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	AAG|CAA	.		0.542	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		T	9516182	A	T	9516182	4	4	49	1	0	0	0	0	0	1	0	0	14179	131	5	5	3621	5	SETD5	3	9516182	Nonsense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10		9516182	188506248	46	10070											
SLC6A11	6538	broad.mit.edu;bcgsc.ca	37	chr3	10858122	10858122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccactggaacaacaaggtgGagttcgtgctgagcgtggcc	15	10	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:10858122G>A	ENST00000254488.2	+	1	238	c.172G>A	c.(172-174)Gag>Aag	p.E58K	SLC6A11_ENST00000454147.1_Missense_Mutation_p.E58K	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	58					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CAACAAGGTGGAGTTCGTGCT	0.687																																					p.E58K		.											.	SLC6A11-132	0			c.G172A						.						51	32	38					3																	10858122		2203	4300	6503	SO:0001583	missense	6538	exon1			AAGGTGGAGTTCG	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.172G>A	3.37:g.10858122G>A	ENSP00000254488:p.Glu58Lys	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	291	10	NM_014229	0	0	0	0	0	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673711	0.88445	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.75704	-0.96;-0.96	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	H	0.98559	4.265	0.80722	D	1	D	0.59357	0.985	D	0.63381	0.914	D	0.94389	0.7612	10	0.87932	D	0	.	15.1481	0.72674	0.0:0.0:1.0:0.0	.	58	P48066	S6A11_HUMAN	K	58	ENSP00000254488:E58K;ENSP00000404120:E58K	ENSP00000254488:E58K	E	+	1	0	SLC6A11	10833122	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	9.213000	0.95133	1.774000	0.52232	0.313000	0.20887	GAG	.		0.687	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		A	10858122	G	A	10858122	3	1	49	1	0	0	0	0	1	0	0	0	14719	1175	41	3	174	3	SLC6A11	3	10858122	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1341940	10858122	187164308	47	10071											
STAC	6769	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	36570404	36570406	+	In_Frame_Del	DEL	AGA	AGA	-													tcagagactacaacaaaatgAgaagatttttagatgtgtta							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:36570404_36570406delAGA	ENST00000273183.3	+	10	1337_1339	c.1037_1039delAGA	c.(1036-1041)gagaag>gag	p.K347del	STAC_ENST00000457375.2_In_Frame_Del_p.K286del	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	347					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAACAAAATGAGAAGATTTTTAG	0.399																																					p.346_347del		.											.	STAC-94	0			c.1037_1039del						.																																			SO:0001651	inframe_deletion	6769	exon10			AAAATGAGAAGAT	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1037_1039delAGA	3.37:g.36570407_36570409delAGA	ENSP00000273183:p.Lys347del	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	80	75	NM_003149	0	0	0	0	0	B2R8S8	In_Frame_Del	DEL	ENST00000273183.3	37	CCDS2662.1																																																																																			.		0.399	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		-	36570406	AGA	-	36570404	7	5	49	1	0	1	0	1	0	0	0	0	15286	304	11	0	1075	0	STAC	3	36570404	In_Frame_Del	DEL	AGA	TCGA-OR-A5LB-01A-11D-A29I-10	25712282	36570404	161452026	48	10072											
MLH1	4292	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	37042447	37042449	+	Splice_Site	DEL	AAG	AAG	-													tctttttggtatctaacagaAagaagatctggatattgtat					rs63751642|rs267607724|rs63749829|rs267607721|rs63751191|rs267607723		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:37042447_37042449delAAG	ENST00000231790.2	+	3	425_427	c.209_211delAAG	c.(208-213)aaagaa>aaa	p.E71del	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	71			Missing (in HNPCC2). {ECO:0000269|PubMed:16083711}.		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)			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						ATCTAACAGAAAGAAGATCTGGA	0.335		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.70_71del		.	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	.	MLH1-2559	0			c.209_211del	GRCh37	CD010631|CM055986	MLH1	D|M		.																																			SO:0001630	splice_region_variant	4292	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	AACAGAAAGAAGA	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.208-1AAG>-	3.37:g.37042450_37042452delAAG		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	61	51	NM_000249	0	0	0	0	0	B4DI13|B4DQ11|E9PCU2	In_Frame_Del	DEL	ENST00000231790.2	37	CCDS2663.1																																																																																			.		0.335	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	In_Frame_Del	-	37042449	AAG	-	37042447	8	5	49	1	0	1	0	1	0	0	1	0	9655	28	1	0	219	0	MLH1	3	37042447	Splice_Site	DEL	AAG	TCGA-OR-A5LB-01A-11D-A29I-10	472043	37042447	160979983	49	10073											
XIRP1	165904	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	39230192	39230192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgacctcatggatggCgccctctgcatcctggatgg	13	13	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:39230192C>T	ENST00000340369.3	-	2	973	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A249T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	249					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCATGGATGGCGCCCTCTGCA	0.597																																					p.A249T		.											.	XIRP1-158	0			c.G745A						.						93	88	90					3																	39230192		2203	4300	6503	SO:0001583	missense	165904	exon2			GGATGGCGCCCTC	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.745G>A	3.37:g.39230192C>T	ENSP00000343140:p.Ala249Thr	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	57	45	NM_001198621	0	0	0	0	0	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	5.696	0.312999	0.10789	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04809	3.55;3.95	4.84	0.645	0.17782	.	0.522001	0.20522	N	0.090683	T	0.01905	0.0060	N	0.08118	0	0.40014	D	0.975324	B;B	0.25312	0.123;0.031	B;B	0.14578	0.008;0.011	T	0.52064	-0.8625	10	0.13470	T	0.59	.	4.466	0.11689	0.0:0.4786:0.1575:0.3638	.	249;249	Q702N8;Q702N8-2	XIRP1_HUMAN;.	T	249	ENSP00000379550:A249T;ENSP00000343140:A249T	ENSP00000343140:A249T	A	-	1	0	XIRP1	39205196	0.163000	0.22920	0.807000	0.32361	0.896000	0.52359	0.574000	0.23714	0.194000	0.20326	-0.229000	0.12294	GCC	.		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39230192	C	T	39230192	3	4	49	1	0	0	0	0	1	0	0	0	17478	768	27	1	4790	1	XIRP1	3	39230192	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2187745	39230192	158792238	50	10074											
RBM5	10181	hgsc.bcm.edu	37	chr3	50155887	50155888	+	Stop_Codon_Ins	INS	-	-	GA													ccggttcactgagatggagtINSgagagagagagagagagaga					rs112672304		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:50155887_50155888insGA	ENST00000347869.3	+	0	2621_2622				RP11-493K19.3_ENST00000437204.1_RNA|RP11-493K19.3_ENST00000425674.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						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)	p.*816fs?(1)		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)		TGAGATGgagtgagagagagag	0.535																																					p.X816delinsX		.											.	RBM5-278	1	Deletion - Frameshift(1)	breast(1)	c.2446_2447insGA						.																																			SO:0001567	stop_retained_variant	10181	exon25			ATGGAGTGAGAGA	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.2466_2467dupGA	3.37:g.50155896_50155897dupGA		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	59	21	NM_005778	0	0	0	0	0	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Ins	INS	ENST00000347869.3	37	CCDS2810.1																																																																																			-|0.500;GA|0.500		0.535	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		GA	50155888	-	GA	50155887	7	5	49	1	0	1	1	0	0	0	0	0	13188	1709	59	0	2540	0	RBM5	3	50155887	Stop_Codon_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	10925695	50155887	147866543	51	10075											
SEMA3G	56920	broad.mit.edu	37	chr3	52476810	52476810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcagagagtagagggCgtccaggccacccagaaaga	14	12	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:52476810C>T	ENST00000231721.2	-	2	228	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	77	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAGTAGAGGGCGTCCAGGCCA	0.627																																					p.A77T		.											.	SEMA3G-70	0			c.G229A						.						58	62	61					3																	52476810		2203	4300	6503	SO:0001583	missense	56920	exon2			AGAGGGCGTCCAG		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.229G>A	3.37:g.52476810C>T	ENSP00000231721:p.Ala77Thr	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	211	4	NM_020163	0	0	1	1	0	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	5.440	0.266314	0.10294	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	T;T	0.10960	2.82;2.82	4.82	1.51	0.23008	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.428883	0.24576	N	0.037355	T	0.06371	0.0164	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.21708	0.036	T	0.36939	-0.9727	10	0.23891	T	0.37	.	5.431	0.16454	0.1407:0.5266:0.0:0.3327	.	77	Q9NS98	SEM3G_HUMAN	T	77;95	ENSP00000231721:A77T;ENSP00000419181:A95T	ENSP00000231721:A77T	A	-	1	0	SEMA3G	52451850	0.000000	0.05858	0.285000	0.24819	0.021000	0.10359	0.289000	0.18957	0.459000	0.27016	-0.291000	0.09656	GCC	.		0.627	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52476810	C	T	52476810	3	4	49	1	0	0	0	0	1	0	0	0	14075	768	27	1	2179	1	SEMA3G	3	52476810	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2320923	52476810	145545620	52	10076											
PDZRN3	23024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	73432786	73432788	+	In_Frame_Del	DEL	CTC	CTC	-													ttcaccaggtgctgcttcctCtcctccttgctccagtagcg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:73432786_73432788delCTC	ENST00000263666.4	-	10	3043_3045	c.2929_2931delGAG	c.(2929-2931)gagdel	p.E977del	PDZRN3_ENST00000535920.1_In_Frame_Del_p.E699del|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_In_Frame_Del_p.E694del|PDZRN3_ENST00000466780.1_In_Frame_Del_p.E634del|PDZRN3_ENST00000462146.2_In_Frame_Del_p.E634del	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	977					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGCTTCCTCTCCTCCTTGCTC	0.64																																					p.977_977del		.											.	PDZRN3-232	0			c.2929_2931del						.																																			SO:0001651	inframe_deletion	23024	exon10			CTTCCTCTCCTCC	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2929_2931delGAG	3.37:g.73432789_73432791delCTC	ENSP00000263666:p.Glu977del	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	94	82	NM_015009	0	0	0	0	0	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	In_Frame_Del	DEL	ENST00000263666.4	37	CCDS33789.1																																																																																			.		0.64	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		-	73432788	CTC	-	73432786	7	5	49	1	0	1	0	1	0	0	0	0	11748	912	32	0	273	0	PDZRN3	3	73432786	In_Frame_Del	DEL	CTC	TCGA-OR-A5LB-01A-11D-A29I-10	20955976	73432786	124589644	53	10077											
ITGB5	3693	broad.mit.edu;bcgsc.ca	37	chr3	124515279	124515279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaggagaagttgtcgCactcacagaaaggcccatag	12	10	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:124515279C>T	ENST00000296181.4	-	10	1945	c.1649G>A	c.(1648-1650)tGc>tAc	p.C550Y		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	550	Cysteine-rich tandem repeats.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAAGTTGTCGCACTCACAGAA	0.582																																					p.C550Y		.											.	ITGB5-227	0			c.G1649A						.						143	131	135					3																	124515279		2203	4300	6503	SO:0001583	missense	3693	exon10			TTGTCGCACTCAC	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1649G>A	3.37:g.124515279C>T	ENSP00000296181:p.Cys550Tyr	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	147	7	NM_002213	0	0	54	55	1	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761885|4.761885	0.89932|0.89932	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000481591|ENST00000296181	.|D	.|0.98249	.|-4.82	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99039|0.99039	0.9671|0.9671	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99755|0.99755	1.1019|1.1019	5|10	.|0.87932	.|D	.|0	.|.	19.0716|19.0716	0.93140|0.93140	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|550	.|P18084	.|ITB5_HUMAN	T|Y	240|550	.|ENSP00000296181:C550Y	.|ENSP00000296181:C550Y	A|C	-|-	1|2	0|0	ITGB5|ITGB5	125997969|125997969	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.971000|0.971000	0.66376|0.66376	7.578000|7.578000	0.82498|0.82498	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GCG|TGC	.		0.582	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		T	124515279	C	T	124515279	3	4	49	1	0	0	0	0	1	0	0	0	7925	710	25	3	774	3	ITGB5	3	124515279	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	51082493	124515279	73507151	54	10078											
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	130159651	130159651	+	Frame_Shift_Del	DEL	T	T	-													ttgcgaagttcttaaagccaTttttatactcggtcaggcgt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:130159651delT	ENST00000432398.2	+	35	6963	c.6469delT	c.(6469-6471)tttfs	p.F2157fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.F2157fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2157	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTTAAAGCCATTTTTATACTC	0.338																																					p.F2157fs		.											.	.	0			c.6469delT						.						55	51	52					3																	130159651		1832	4081	5913	SO:0001589	frameshift_variant	256076	exon35			AAGCCATTTTTAT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6469delT	3.37:g.130159651delT	ENSP00000390895:p.Phe2157fs	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	77	33	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	ENST00000432398.2	37																																																																																				.		0.338	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		-	130159651	T	-	130159651	7	5	49	1	0	1	0	1	0	0	0	0	3709	1493	52	0	6603	0	COL6A5	3	130159651	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	5644372	130159651	67862779	55	10079											
EPHB3	2049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	184299402	184299402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccagacgctgcctgtgCaggtctgacaccggctccca	11	15	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:184299402C>A	ENST00000330394.2	+	16	3441	c.2989C>A	c.(2989-2991)Cag>Aag	p.Q997K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	997					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGCCTGTGCAGGTCTGACA	0.617																																					p.Q997K		.											.	EPHB3-1455	0			c.C2989A						.						35	34	34					3																	184299402		2202	4300	6502	SO:0001583	missense	2049	exon16			CCTGTGCAGGTCT	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2989C>A	3.37:g.184299402C>A	ENSP00000332118:p.Gln997Lys	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	124	107	NM_004443	0	0	1	2	1	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012350	0.54468	.	.	ENSG00000182580	ENST00000330394	T	0.72167	-0.63	4.36	4.36	0.52297	.	0.061504	0.64402	D	0.000003	T	0.60741	0.2292	L	0.34521	1.04	0.80722	D	1	B	0.30406	0.278	B	0.27887	0.084	T	0.61806	-0.6987	10	0.40728	T	0.16	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	997	P54753	EPHB3_HUMAN	K	997	ENSP00000332118:Q997K	ENSP00000332118:Q997K	Q	+	1	0	EPHB3	185782096	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.881000	0.63114	2.378000	0.81104	0.643000	0.83706	CAG	.		0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184299402	C	A	184299402	3	1	49	1	0	0	0	0	1	0	0	0	5192	711	25	3	3051	3	EPHB3	3	184299402	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	54139751	184299402	13723028	56	10080											
FAM43A	131583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	194407766	194407766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcgaggacccaacttacAccgtgctctacctgggcaat	9	14	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr3:194407766A>G	ENST00000329759.4	+	1	1145	c.211A>G	c.(211-213)Acc>Gcc	p.T71A		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	71										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CCCAACTTACACCGTGCTCTA	0.672																																					p.T71A		.											.	FAM43A-90	0			c.A211G						.						76	68	71					3																	194407766		2203	4300	6503	SO:0001583	missense	131583	exon1			ACTTACACCGTGC	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.211A>G	3.37:g.194407766A>G	ENSP00000371397:p.Thr71Ala	Somatic	279	1		WXS	Illumina GAIIx	Phase_I	351	310	NM_153690	0	0	4	4	0	A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	37	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643116	0.67244	.	.	ENSG00000185112	ENST00000329759	T	0.62639	0.01	5.16	5.16	0.70880	Pleckstrin homology-type (1);	0.052449	0.85682	D	0.000000	T	0.57695	0.2071	L	0.55481	1.735	0.58432	D	0.999999	P	0.40909	0.732	B	0.41988	0.372	T	0.54748	-0.8247	10	0.12766	T	0.61	-16.2763	13.8367	0.63413	1.0:0.0:0.0:0.0	.	71	Q8N2R8	FA43A_HUMAN	A	71	ENSP00000371397:T71A	ENSP00000371397:T71A	T	+	1	0	FAM43A	195889055	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	8.586000	0.90806	1.948000	0.56530	0.374000	0.22700	ACC	.		0.672	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		G	194407766	A	G	194407766	3	3	49	1	0	0	0	0	1	0	0	0	5584	159	6	4	213	4	FAM43A	3	194407766	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	10108364	194407766	3614664	57	10081											
WHSC2	7469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1991593	1991593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagacgcttcacactcaCccactgccggtaagaaccac	8	16	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:1991593C>T	ENST00000411638.2	-	3	401	c.386G>A	c.(385-387)gGt>gAt	p.G129D	NELFA_ENST00000542778.1_De_novo_Start_OutOfFrame|NELFA_ENST00000382882.3_Missense_Mutation_p.G140D	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	129					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTCACACTCACCCACTGCCGG	0.637																																					p.G140D		.											.	.	0			c.G419A						.						72	79	76					4																	1991593		2203	4300	6503	SO:0001583	missense	7469	exon3			CACTCACCCACTG	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.386G>A	4.37:g.1991593C>T	ENSP00000399165:p.Gly129Asp	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	237	107	NM_005663	0	0	0	0	0	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.850|2.850	-0.238591|-0.238591	0.05944|0.05944	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000453740;ENST00000411649	T;T;T;T|.	0.42131|.	1.62;0.98;1.62;1.62|.	4.96|4.96	1.92|1.92	0.25849|0.25849	.|.	0.275863|.	0.45126|.	D|.	0.000386|.	T|T	0.33556|0.33556	0.0867|0.0867	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.17038|.	0.02|.	B|.	0.21360|.	0.034|.	T|T	0.26744|0.26744	-1.0094|-1.0094	10|6	0.15499|0.66056	T|D	0.54|0.02	-7.3525|-7.3525	10.6578|10.6578	0.45686|0.45686	0.0:0.7843:0.1313:0.0844|0.0:0.7843:0.1313:0.0844	.|.	129|.	Q9H3P2|.	NELFA_HUMAN|.	D|M	140;133;129;145;59|30;113	ENSP00000372335:G140D;ENSP00000387647:G133D;ENSP00000399165:G129D;ENSP00000395761:G145D|.	ENSP00000372335:G140D|ENSP00000330311:V72M	G|V	-|-	2|1	0|0	WHSC2|WHSC2	1961391|1961391	0.922000|0.922000	0.31269|0.31269	0.025000|0.025000	0.17156|0.17156	0.033000|0.033000	0.12548|0.12548	1.949000|1.949000	0.40313|0.40313	0.029000|0.029000	0.15352|0.15352	0.609000|0.609000	0.83330|0.83330	GGT|GTG	.		0.637	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		T	1991593	C	T	1991593	3	4	49	1	0	0	0	0	1	0	0	0	17413	507	18	3	1236	3	WHSC2	4	1991593	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		1991593	189162683	58	10082											
C4orf23	152992	hgsc.bcm.edu;bcgsc.ca	37	chr4	8470030	8470032	+	In_Frame_Del	DEL	AAG	AAG	-													ggtggaaagcaattaaacacAagaagttctcgaaatgggag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:8470030_8470032delAAG	ENST00000389737.4	+	9	1884_1886	c.1884_1886delAAG	c.(1882-1887)acaaga>aca	p.R629del	TRMT44_ENST00000513449.2_In_Frame_Del_p.R388del	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	629					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AATTAAACACAAGAAGTTCTCGA	0.502																																					p.628_629del		.											.	.	0			c.1884_1886del						.																																			SO:0001651	inframe_deletion	152992	exon9			AAACACAAGAAGT	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1884_1886delAAG	4.37:g.8470033_8470035delAAG	ENSP00000374387:p.Arg629del	Somatic	135	1		WXS	Illumina GAIIx	Phase_I	236	105	NM_152544	0	0	0	0	0	Q8NA95	In_Frame_Del	DEL	ENST00000389737.4	37	CCDS3402.2																																																																																			.		0.502	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		-	8470032	AAG	-	8470030	7	5	49	1	0	1	0	1	0	0	0	0	2263	117	5	0	1918	0	C4orf23	4	8470030	In_Frame_Del	DEL	AAG	TCGA-OR-A5LB-01A-11D-A29I-10	6478437	8470030	182684246	59	10083											
STIM2	57620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	27000929	27000929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacagacaaaaacttcaGctcaaggcattggatgtggt	10	8	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:27000929G>A	ENST00000467011.1	+	5	1010	c.585G>A	c.(583-585)caG>caA	p.Q195Q	STIM2_ENST00000465503.1_Silent_p.Q195Q|STIM2_ENST00000467087.1_Silent_p.Q195Q|STIM2_ENST00000412829.2_Silent_p.Q282Q|STIM2_ENST00000237364.5_Silent_p.Q282Q|STIM2_ENST00000382009.3_Silent_p.Q282Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	195	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AAAAACTTCAGCTCAAGGCAT	0.403																																					p.Q195Q		.											.	STIM2-91	0			c.G585A						.						129	112	118					4																	27000929		2203	4300	6503	SO:0001819	synonymous_variant	57620	exon5			ACTTCAGCTCAAG	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.585G>A	4.37:g.27000929G>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	144	62	NM_001169118	0	0	7	9	2	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467011.1	37	CCDS54752.1																																																																																			.		0.403	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		A	27000929	G	A	27000929	2	1	49	1	0	0	0	0	0	0	0	1	15331	962	34	3		3	STIM2	4	27000929	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	18530899	27000929	164153347	60	10084											
TLR6	10333	hgsc.bcm.edu;bcgsc.ca	37	chr4	38830935	38830935	+	Frame_Shift_Del	DEL	T	T	-													agacatatctaagactttggTtttcagcggtaggtcttttg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:38830935delT	ENST00000381950.1	-	1	225	c.160delA	c.(160-162)accfs	p.T54fs	TLR6_ENST00000436693.2_Frame_Shift_Del_p.T54fs			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	54					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGACTTTGGTTTTCAGCGGT	0.408																																					p.T54fs		.											.	TLR6-524	0			c.160delA						.						88	81	84					4																	38830935		2203	4300	6503	SO:0001589	frameshift_variant	10333	exon2			CTTTGGTTTTCAG		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.160delA	4.37:g.38830935delT	ENSP00000371376:p.Thr54fs	Somatic	79	1		WXS	Illumina GAIIx	Phase_I	171	83	NM_006068	0	0	0	0	0	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Frame_Shift_Del	DEL	ENST00000381950.1	37	CCDS3446.1																																																																																			.		0.408	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			-	38830935	T	-	38830935	7	5	49	1	0	1	0	1	0	0	0	0	16002	1725	60	0	2234	0	TLR6	4	38830935	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	11830006	38830935	152323341	61	10085											
FRYL	285527	bcgsc.ca	37	chr4	48592687	48592687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaactaacctatgacttttGcttcttcatctgtcaaggtt	5	9	4	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:48592687G>T	ENST00000503238.1	-	14	1495	c.1496C>A	c.(1495-1497)gCa>gAa	p.A499E	FRYL_ENST00000506685.1_Missense_Mutation_p.A205E|FRYL_ENST00000507711.1_Missense_Mutation_p.A499E|FRYL_ENST00000358350.4_Missense_Mutation_p.A499E|FRYL_ENST00000537810.1_Missense_Mutation_p.A499E|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATGACTTTTGCTTCTTCATC	0.294																																					p.A499E		.											.	FRYL-69	0			c.C1496A						.						78	73	75					4																	48592687		1796	4076	5872	SO:0001583	missense	285527	exon17			ACTTTTGCTTCTT	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1496C>A	4.37:g.48592687G>T	ENSP00000426064:p.Ala499Glu	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_015030	0	0	0	0	0	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059567	0.93846	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.51071	1.69;1.69;1.69;0.72	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.72526	0.3471	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79784	0.992;0.993	T	0.72944	-0.4138	10	0.44086	T	0.13	.	19.6103	0.95602	0.0:0.0:1.0:0.0	.	499;499	F2Z2S2;O94915	.;FRYL_HUMAN	E	499;499;499;499;205	ENSP00000426064:A499E;ENSP00000351113:A499E;ENSP00000441114:A499E;ENSP00000421584:A499E	ENSP00000351113:A499E	A	-	2	0	FRYL	48287444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.786000	0.99046	2.629000	0.89072	0.655000	0.94253	GCA	.		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			T	48592687	G	T	48592687	3	4	49	1	0	0	0	0	1	0	0	0	6088	1319	46	3	7737	3	FRYL	4	48592687	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	9761752	48592687	142561589	62	10086											
UGT2B15	7366	hgsc.bcm.edu	37	chr4	69536320	69536320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcagcagaaagactgacGtccatttcagagacatcctg	9	10	2	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:69536320G>A	ENST00000338206.5	-	1	26	c.17C>T	c.(16-18)aCg>aTg	p.T6M		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	6					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)	AAAGACTGACGTCCATTTCAG	0.403																																					p.T6M		.											.	UGT2B15-46	0			c.C17T						.						222	232	229					4																	69536320		2203	4297	6500	SO:0001583	missense	7366	exon1			ACTGACGTCCATT	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.17C>T	4.37:g.69536320G>A	ENSP00000341045:p.Thr6Met	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	133	8	NM_001076	0	0	0	0	0	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	4.807	0.149959	0.09185	.	.	ENSG00000196620	ENST00000338206	T	0.60299	0.2	2.56	-2.34	0.06704	.	1.919090	0.03725	N	0.252530	T	0.48040	0.1478	L	0.47716	1.5	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.22347	-1.0219	10	0.32370	T	0.25	.	5.9844	0.19426	0.5394:0.0:0.4606:0.0	.	6	P54855	UDB15_HUMAN	M	6	ENSP00000341045:T6M	ENSP00000341045:T6M	T	-	2	0	UGT2B15	69218915	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.193000	0.09573	-0.573000	0.05998	-0.480000	0.04831	ACG	.		0.403	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		A	69536320	G	A	69536320	3	1	49	1	0	0	0	0	1	0	0	0	17007	1145	40	1	3216	1	UGT2B15	4	69536320	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	20943633	69536320	121617956	63	10087											
SHROOM3	57619	hgsc.bcm.edu	37	chr4	77662309	77662309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccctgctgagggcgacCtggccaggcccgtgccccct	13	18	0	2	rs344143	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:77662309C>T	ENST00000296043.6	+	5	3936	c.2983C>T	c.(2983-2985)Ctg>Ttg	p.L995L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	995	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)			TGAGGGCGACCTGGCCAGGCC	0.741													C|||	1906	0.380591	0.4115	0.4078	5008	,	,		9710	0.2669		0.4245	False		,,,				2504	0.3916				p.L995L		.											.	SHROOM3-93	0			c.C2983T						.	C		1365,2227		322,721,753	3	4	4		2983	-0.1	0	4	dbSNP_79	4	3066,4302		771,1524,1389	no	coding-synonymous	SHROOM3	NM_020859.3		1093,2245,2142	TT,TC,CC		41.6124,38.0011,40.4288		995/1997	77662309	4431,6529	1796	3684	5480	SO:0001819	synonymous_variant	57619	exon5			GGCGACCTGGCCA	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.2983C>T	4.37:g.77662309C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_020859	0	0	0	3	3	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																			C|0.604;T|0.396		0.741	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77662309	C	T	77662309	2	4	49	1	0	0	0	0	0	0	0	1	14340	680	24	3		3	SHROOM3	4	77662309	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	8125989	77662309	113491967	64	10088											
PRKG2	5593	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	82126123	82126123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgtcaccttgttccGcagagcatcagtggtgaggt	12	11	3	2	rs187350442		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:82126123G>A	ENST00000395578.1	-	2	195	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	PRKG2_ENST00000418486.2_Missense_Mutation_p.R27W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R27W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	27					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.R27W(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTGTTCCGCAGAGCATCA	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		19454	0		0	False		,,,				2504	0				p.R27W		.											.	PRKG2-524	2	Substitution - Missense(2)	kidney(2)	c.C79T						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86	80	82		79	4.2	1	4		82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PRKG2	NM_006259.1	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	27/763	82126123	3,13003	2203	4300	6503	SO:0001583	missense	5593	exon1			TGTTCCGCAGAGC	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.79C>T	4.37:g.82126123G>A	ENSP00000378945:p.Arg27Trp	Somatic	137	2		WXS	Illumina GAIIx	Phase_I	295	139	NM_006259	0	0	0	0	0	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.71	1.720797	0.30503	2.27E-4	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.70869	-0.4;-0.4;-0.52	5.1	4.25	0.50352	.	0.218260	0.45361	D	0.000375	T	0.55752	0.1940	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.988	B;B	0.44315	0.446;0.353	T	0.59595	-0.7425	10	0.72032	D	0.01	-10.0862	6.7167	0.23308	0.0809:0.0:0.4711:0.448	.	27;27	E7EPE6;Q13237	.;KGP2_HUMAN	W	27	ENSP00000378945:R27W;ENSP00000264399:R27W;ENSP00000389038:R27W	ENSP00000264399:R27W	R	-	1	2	PRKG2	82345147	0.972000	0.33761	1.000000	0.80357	0.561000	0.35649	0.506000	0.22658	1.366000	0.46076	0.585000	0.79938	CGG	G|0.999;A|0.001		0.527	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82126123	G	A	82126123	3	1	49	1	0	0	0	0	1	0	0	0	12565	1086	38	1	2281	1	PRKG2	4	82126123	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	4463814	82126123	109028153	65	10089											
HERC6	55008	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	89311864	89311865	+	Frame_Shift_Ins	INS	-	-	C													ctgggcttggggaaggagttINScccctcccaagccagcccgc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:89311864_89311865insC	ENST00000264346.7	+	4	556_557	c.497_498insC	c.(496-501)ttccccfs	p.FP166fs	HERC6_ENST00000273960.3_Frame_Shift_Ins_p.FP166fs|HERC6_ENST00000380265.5_Frame_Shift_Ins_p.FP166fs	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	166					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGGAAGGAGTTCCCCTCCCAAG	0.559																																					p.F166fs		.											.	HERC6-658	0			c.497_498insC						.																																			SO:0001589	frameshift_variant	55008	exon4			AGGAGTTCCCCTC	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.501dupC	4.37:g.89311868_89311868dupC	ENSP00000264346:p.Phe166fs	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	165	76	NM_017912	0	0	0	0	0	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Frame_Shift_Ins	INS	ENST00000264346.7	37	CCDS47098.1																																																																																			.		0.559	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			C	89311865	-	C	89311864	7	5	49	1	0	1	1	0	0	0	0	0	7089	1783	62	0	308	0	HERC6	4	89311864	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	7185741	89311864	101842412	66	10090											
UNC5C	8633	hgsc.bcm.edu;bcgsc.ca	37	chr4	96140294	96140294	+	Frame_Shift_Del	DEL	G	G	-													aaactcagagaggtcatcttGgggggtgacagcacctgagg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:96140294delG	ENST00000453304.1	-	9	1819	c.1471delC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Del_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTCATCTTGGGGGGTGACA	0.502																																					p.Q491fs		.											.	UNC5C-94	0			c.1471delC						.						220	200	207					4																	96140294		2203	4300	6503	SO:0001589	frameshift_variant	8633	exon9			CATCTTGGGGGGT	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1471delC	4.37:g.96140294delG	ENSP00000406022:p.Gln491fs	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	450	214	NM_003728	0	0	0	0	0	Q8IUT0	Frame_Shift_Del	DEL	ENST00000453304.1	37	CCDS3643.1																																																																																			.		0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		-	96140294	G	-	96140294	7	5	49	1	0	1	0	1	0	0	0	0	17042	1357	47	0	1356	0	UNC5C	4	96140294	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	6828430	96140294	95013982	67	10091											
AP1AR	55435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	113189441	113189441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgggctggagtgggaaaAtgattttgttagtgccgaaa	14	4	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:113189441A>G	ENST00000274000.5	+	10	1140	c.785A>G	c.(784-786)aAt>aGt	p.N262S	AP1AR_ENST00000309703.6_Missense_Mutation_p.N229S	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	262					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						GAGTGGGAAAATGATTTTGTT	0.408																																					p.N262S		.											.	AP1AR-90	0			c.A785G						.						122	111	115					4																	113189441		2203	4300	6503	SO:0001583	missense	55435	exon10			GGGAAAATGATTT	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.785A>G	4.37:g.113189441A>G	ENSP00000274000:p.Asn262Ser	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	213	92	NM_018569	0	1	32	49	16	B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.224539	0.58668	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.56941	0.46;0.43	5.57	3.1	0.35709	.	0.049569	0.85682	N	0.000000	T	0.63686	0.2532	L	0.60455	1.87	0.42403	D	0.992571	D;B	0.71674	0.998;0.141	D;B	0.76071	0.987;0.041	T	0.62291	-0.6885	10	0.72032	D	0.01	-9.4229	7.1095	0.25382	0.7774:0.148:0.0746:0.0	.	229;262	Q63HQ0-2;Q63HQ0	.;AP1AR_HUMAN	S	262;229	ENSP00000274000:N262S;ENSP00000309023:N229S	ENSP00000274000:N262S	N	+	2	0	AP1AR	113408890	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.636000	0.61339	0.384000	0.24942	0.528000	0.53228	AAT	.		0.408	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		G	113189441	A	G	113189441	3	3	49	1	0	0	0	0	1	0	0	0	730	101	4	4	823	4	AP1AR	4	113189441	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	17049147	113189441	77964835	68	10092											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	114276759	114276759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaagatgattgcacaGgcagctgtagtgtagcatta	11	6	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:114276759G>A	ENST00000357077.4	+	38	7038	c.6985G>A	c.(6985-6987)Ggc>Agc	p.G2329S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2296S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2329					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)		TGATTGCACAGGCAGCTGTAG	0.488																																					p.G2329S		.											.	ANK2-583	0			c.G6985A						.						60	58	59					4																	114276759		2203	4300	6503	SO:0001583	missense	287	exon38			TGCACAGGCAGCT	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.6985G>A	4.37:g.114276759G>A	ENSP00000349588:p.Gly2329Ser	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	154	70	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	1.768	-0.485182	0.04352	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65178	-0.13;-0.14	5.53	2.68	0.31781	.	0.644708	0.14201	N	0.334672	T	0.50411	0.1614	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.34800	-0.9814	9	.	.	.	.	9.6352	0.39804	0.0791:0.2706:0.6503:0.0	.	2296;2329	Q01484;Q01484-4	ANK2_HUMAN;.	S	2329;2296	ENSP00000349588:G2329S;ENSP00000264366:G2296S	.	G	+	1	0	ANK2	114496208	0.019000	0.18553	0.002000	0.10522	0.151000	0.21798	1.172000	0.31908	1.287000	0.44583	0.655000	0.94253	GGC	.		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114276759	G	A	114276759	3	1	49	1	0	0	0	0	1	0	0	0	621	1000	35	3	7200	3	ANK2	4	114276759	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1087318	114276759	76877517	69	10093											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	126369791	126369791	+	Frame_Shift_Del	DEL	A	A	-													gtgacattttctgtgcatgtAaaagatggtggctcatttcc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:126369791delA	ENST00000394329.3	+	9	7633	c.7620delA	c.(7618-7620)gtafs	p.V2540fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.V838fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2540	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTGCATGTAAAAGATGGTG	0.433																																					p.V2540fs		.											.	FAT4-108	0			c.7620delA						.						81	79	80					4																	126369791		2203	4299	6502	SO:0001589	frameshift_variant	79633	exon9			GCATGTAAAAGAT	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.7620delA	4.37:g.126369791delA	ENSP00000377862:p.Val2540fs	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	259	115	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	CCDS3732.3																																																																																			.		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		-	126369791	A	-	126369791	7	5	49	1	0	1	0	1	0	0	0	0	5714	349	13	0	7654	0	FAT4	4	126369791	Frame_Shift_Del	DEL	A	TCGA-OR-A5LB-01A-11D-A29I-10	12093032	126369791	64784485	70	10094											
NAA15	80155	hgsc.bcm.edu;bcgsc.ca	37	chr4	140291458	140291459	+	Frame_Shift_Del	DEL	AA	AA	-													agaagagaaaaaaaatgcagAaaaagaaaagcagcagagaa							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AA	AA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:140291458_140291459delAA	ENST00000296543.5	+	15	2170_2171	c.1847_1848delAA	c.(1846-1848)gaafs	p.E616fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.E616fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	616	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						aaaaatgcagaaaaagaaaagc	0.386																																					p.616_616del		.											.	NAA15-92	0			c.1847_1848del						.																																			SO:0001589	frameshift_variant	80155	exon15			ATGCAGAAAAAGA	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1847_1848delAA	4.37:g.140291460_140291461delAA	ENSP00000296543:p.Glu616fs	Somatic	123	2		WXS	Illumina GAIIx	Phase_I	214	109	NM_057175	0	0	0	0	0	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	ENST00000296543.5	37	CCDS43270.1																																																																																			.		0.386	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		-	140291459	AA	-	140291458	7	5	49	1	0	1	0	1	0	0	0	0	10156	246	9	0	1905	0	NAA15	4	140291458	Frame_Shift_Del	DEL	AA	TCGA-OR-A5LB-01A-11D-A29I-10	13921667	140291458	50862818	71	10095											
ZNF330	27309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	142143548	142143548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaaaaaaaagactggtgCgaggaagaaggctgagaacc	13	7	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:142143548C>T	ENST00000262990.4	+	2	251	c.23C>T	c.(22-24)gCg>gTg	p.A8V	ZNF330_ENST00000421169.2_5'UTR	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	8						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					AAGACTGGTGCGAGGAAGAAG	0.358																																					p.A8V		.											.	ZNF330-90	0			c.C23T						.						86	87	87					4																	142143548		2203	4300	6503	SO:0001583	missense	27309	exon2			CTGGTGCGAGGAA	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.23C>T	4.37:g.142143548C>T	ENSP00000262990:p.Ala8Val	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	333	160	NM_014487	0	0	23	52	29	B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298763	0.95574	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.51028	-0.8757	10	0.62326	D	0.03	-13.4092	19.9462	0.97183	0.0:1.0:0.0:0.0	.	8	Q9Y3S2	ZN330_HUMAN	V	8	ENSP00000262990:A8V;ENSP00000422599:A8V;ENSP00000422966:A8V;ENSP00000422251:A8V	ENSP00000262990:A8V	A	+	2	0	ZNF330	142362998	1.000000	0.71417	0.364000	0.25888	0.998000	0.95712	7.227000	0.78070	2.717000	0.92951	0.585000	0.79938	GCG	.		0.358	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		T	142143548	C	T	142143548	3	4	49	1	0	0	0	0	1	0	0	0	17896	768	27	1	25	1	ZNF330	4	142143548	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1852090	142143548	49010728	72	10096											
DCLK2	166614	bcgsc.ca	37	chr4	151000382	151000384	+	In_Frame_Del	DEL	AGA	AGA	-													cctgcaggccctcagctcggAgaagaaggccaagaaggcgc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AGA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:151000382_151000384delAGA	ENST00000296550.7	+	1	957_959	c.203_205delAGA	c.(202-207)gagaag>gag	p.K70del	DCLK2_ENST00000506325.1_In_Frame_Del_p.K70del|DCLK2_ENST00000302176.8_In_Frame_Del_p.K70del	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	70					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCAGCTCGGAGAAGAAGGCCAA	0.66																																					p.68_69del	GBM(195;186 2215 13375 16801 37459)	.											.	DCLK2-300	0			c.203_205del						.																																			SO:0001651	inframe_deletion	166614	exon1			GCTCGGAGAAGAA	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.203_205delAGA	4.37:g.151000385_151000387delAGA	ENSP00000296550:p.Lys70del	Somatic	297	4		WXS	Illumina GAIIx	Phase_I	665	0	NM_001040260	0	0	0	0	0	C9J5Q9|Q59GC8|Q8N399	In_Frame_Del	DEL	ENST00000296550.7	37	CCDS34076.1																																																																																			.		0.66	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		-	151000384	AGA	-	151000382	7	5	49	1	0	1	0	1	0	0	0	0	4301	304	11	0	205	0	DCLK2	4	151000382	In_Frame_Del	DEL	AGA	TCGA-OR-A5LB-01A-11D-A29I-10	8856834	151000382	40153894	73	10097											
ODZ3	55714	hgsc.bcm.edu	37	chr4	183721231	183721231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgctgcacgtgcgctaCggcatgaccctggacgagga	15	13	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:183721231C>T	ENST00000511685.1	+	28	7950	c.7827C>T	c.(7825-7827)taC>taT	p.Y2609Y	TENM3_ENST00000406950.2_Silent_p.Y2609Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2609					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)										ACGTGCGCTACGGCATGACCC	0.731																																					p.Y2609Y		.											.	.	0			c.C7827T						.						14	17	16					4																	183721231		2162	4253	6415	SO:0001819	synonymous_variant	55714	exon27			GCGCTACGGCATG	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.7827C>T	4.37:g.183721231C>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	13	5	NM_001080477	0	0	0	1	1	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			.		0.731	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183721231	C	T	183721231	2	4	49	1	0	0	0	0	0	0	0	1	10875	547	19	1		1	ODZ3	4	183721231	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	32720849	183721231	7433045	74	10098											
ACSL1	2180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	185684335	185684335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacctcgccctcgccctCggcagccatgtaattcattt	6	17	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr4:185684335C>T	ENST00000515030.1	-	16	1832	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ACSL1_ENST00000504342.1_Missense_Mutation_p.E503K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E503K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E332K|ACSL1_ENST00000507295.1_Missense_Mutation_p.E469K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E332K|ACSL1_ENST00000513317.1_Missense_Mutation_p.E503K			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	503					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTCGCCCTCGGCAGCCATG	0.488																																					p.E503K		.											.	ACSL1-92	0			c.G1507A						.						67	65	65					4																	185684335		2203	4300	6503	SO:0001583	missense	2180	exon16			CGCCCTCGGCAGC	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1507G>A	4.37:g.185684335C>T	ENSP00000422607:p.Glu503Lys	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	72	66	NM_001995	0	0	0	13	13	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	8.620	0.891225	0.17613	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.6	-0.0918	0.13659	AMP-dependent synthetase/ligase (1);	0.275894	0.45867	N	0.000336	T	0.02807	0.0084	N	0.01257	-0.925	0.26851	N	0.968176	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12837	0.008;0.001;0.001;0.001	T	0.42464	-0.9450	10	0.22706	T	0.39	-5.745	6.3524	0.21383	0.0:0.133:0.2424:0.6245	.	469;503;503;503	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	K	332;503;109;503;469;332;503;503	ENSP00000407165:E332K;ENSP00000422607:E503K;ENSP00000425098:E109K;ENSP00000281455:E503K;ENSP00000426244:E469K;ENSP00000405687:E332K;ENSP00000425006:E503K;ENSP00000426150:E503K	ENSP00000281455:E503K	E	-	1	0	ACSL1	185921329	1.000000	0.71417	0.576000	0.28549	0.595000	0.36748	4.158000	0.58150	-0.164000	0.10927	-0.290000	0.09829	GAG	.		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		T	185684335	C	T	185684335	3	4	49	1	0	0	0	0	1	0	0	0	177	893	31	1	613	1	ACSL1	4	185684335	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1963104	185684335	5469941	75	10099											
DNAH5	1767	bcgsc.ca	37	chr5	13766210	13766210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaaacagcagcagtaCgcaatccatgatccgcatga	8	12	0	3	rs149452082		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:13766210C>T	ENST00000265104.4	-	59	10080	c.9976G>A	c.(9976-9978)Gta>Ata	p.V3326I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3326	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCAGCAGTACGCAATCCATG	0.522									Kartagener syndrome																												p.V3326I		.											.	DNAH5-182	0			c.G9976A						.						115	112	113					5																	13766210		2203	4300	6503	SO:0001583	missense	1767	exon59	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCAGTACGCAATC	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.9976G>A	5.37:g.13766210C>T	ENSP00000265104:p.Val3326Ile	Somatic	97	2		WXS	Illumina GAIIx	Phase_I	192	114	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368022	0.95900	.	.	ENSG00000039139	ENST00000265104	T	0.79141	-1.24	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	D	0.84606	0.0675	10	0.48119	T	0.1	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3326	Q8TE73	DYH5_HUMAN	I	3326	ENSP00000265104:V3326I	ENSP00000265104:V3326I	V	-	1	0	DNAH5	13819210	1.000000	0.71417	0.994000	0.49952	0.881000	0.50899	5.966000	0.70395	2.660000	0.90430	0.558000	0.71614	GTA	C|1.000;A|0.000		0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13766210	C	T	13766210	3	4	49	1	0	0	0	0	1	0	0	0	4618	536	19	1	3982	1	DNAH5	5	13766210	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		13766210	167149050	76	10100											
AGXT2	64902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	34998917	34998917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtgatgcacattgagggCgcaatgcgaaatgtctgagg	14	6	1	3	rs372814383		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:34998917C>T	ENST00000231420.6	-	14	1652	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	484					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.A484A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ACATTGAGGGCGCAATGCGAA	0.363													C|||	1	0.000199681	0	0	5008	,	,		22057	0		0	False		,,,				2504	0.001				p.A484A		.											.	AGXT2-94	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.G1452A						.	C		3,4403	6.2+/-15.9	0,3,2200	154	135	142		1452	-11.1	0.2	5		142	0,8600		0,0,4300	no	coding-synonymous	AGXT2	NM_031900.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		484/515	34998917	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64902	exon14			TGAGGGCGCAATG	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1452G>A	5.37:g.34998917C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	100	40	NM_031900	0	0	0	0	0	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	CCDS3908.1																																																																																			.		0.363	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		T	34998917	C	T	34998917	2	4	49	1	0	0	0	0	0	0	0	1	405	755	27	1		1	AGXT2	5	34998917	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	21232707	34998917	145916343	77	10101											
NUP155	9631	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	37348627	37348628	+	Frame_Shift_Del	DEL	AG	AG	-													ctagcaatgttaccagcagcAgagacaatggcattctgtga							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:37348627_37348628delAG	ENST00000231498.3	-	9	1177_1178	c.974_975delCT	c.(973-975)tctfs	p.S325fs	NUP155_ENST00000513532.1_Frame_Shift_Del_p.S325fs|NUP155_ENST00000381843.2_Frame_Shift_Del_p.S266fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	325					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCAGCAGCAGAGACAATGGC	0.356																																					p.325_325del		.											.	NUP155-205	0			c.974_975del						.																																			SO:0001589	frameshift_variant	9631	exon9			AGCAGCAGAGACA	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.974_975delCT	5.37:g.37348629_37348630delAG	ENSP00000231498:p.Ser325fs	Somatic	384	0		WXS	Illumina GAIIx	Phase_I	683	313	NM_153485	0	0	0	0	0	Q9UBE9|Q9UFL5	Frame_Shift_Del	DEL	ENST00000231498.3	37	CCDS3921.1																																																																																			.		0.356	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		-	37348628	AG	-	37348627	7	5	49	1	0	1	0	1	0	0	0	0	10795	175	7	0	3308	0	NUP155	5	37348627	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LB-01A-11D-A29I-10	2349710	37348627	143566633	78	10102											
OSMR	9180	hgsc.bcm.edu;broad.mit.edu	37	chr5	38923329	38923329	+	Frame_Shift_Del	DEL	A	A	-													ggattgcttgtttattagagAaaaaaacaggatactctcag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:38923329delA	ENST00000274276.3	+	13	2245	c.1843delA	c.(1843-1845)aaafs	p.K616fs		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	616	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTATTAGAGAAAAAAACAGG	0.368																																					p.K615fs		.											.	OSMR-496	0			c.1843delA						.						70	74	73					5																	38923329		2203	4300	6503	SO:0001589	frameshift_variant	9180	exon13			TTAGAGAAAAAAA	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1843delA	5.37:g.38923329delA	ENSP00000274276:p.Lys616fs	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	62	11	NM_003999	0	0	0	0	0	Q6P4E8|Q96QJ6	Frame_Shift_Del	DEL	ENST00000274276.3	37	CCDS3928.1																																																																																			.		0.368	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		-	38923329	A	-	38923329	7	5	49	1	0	1	0	1	0	0	0	0	11331	247	9	0	1927	0	OSMR	5	38923329	Frame_Shift_Del	DEL	A	TCGA-OR-A5LB-01A-11D-A29I-10	1574702	38923329	141991931	79	10103											
C5orf39	389289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	43039623	43039623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagagtacagagaacgCggcaaaaccaacgcgaagaa	11	12	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:43039623C>T	ENST00000314890.3	-	2	1945	c.526G>A	c.(526-528)Gcg>Acg	p.A176T	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	176																	ACAGAGAACGCGGCAAAACCA	0.562											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A176T		.											.	.	0			c.G526A						.						82	84	83					5																	43039623		2203	4300	6503	SO:0001583	missense	389289	exon1			AGAACGCGGCAAA	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.526G>A	5.37:g.43039623C>T	ENSP00000315915:p.Ala176Thr	Somatic	112	0	913	WXS	Illumina GAIIx	Phase_I	219	119	NM_001014279	1	0	3	5	1	Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919026	0.33908	.	.	ENSG00000177721	ENST00000314890	T	0.39592	1.07	2.46	-4.92	0.03075	.	.	.	.	.	T	0.20373	0.0490	N	0.24115	0.695	0.09310	N	1	P	0.34826	0.471	B	0.24541	0.054	T	0.07195	-1.0785	9	0.87932	D	0	.	5.4736	0.16684	0.134:0.1752:0.5818:0.1091	.	176	Q3ZCQ2	AX2R_HUMAN	T	176	ENSP00000315915:A176T	ENSP00000315915:A176T	A	-	1	0	C5orf39	43075380	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.881000	0.04179	-1.671000	0.01466	-0.910000	0.02820	GCG	.		0.562	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		T	43039623	C	T	43039623	3	4	49	1	0	0	0	0	1	0	0	0	2304	768	27	1	59	1	C5orf39	5	43039623	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	4116294	43039623	137875637	80	10104											
CWC27	10283	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A													tgatgagagaaagaattgccINSaaaaaattaaaaaaggacac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:64100133_64100134insA	ENST00000381070.3	+	10	1075_1076	c.858_859insA	c.(859-861)aaafs	p.K287fs	CWC27_ENST00000508024.1_Frame_Shift_Ins_p.K287fs	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	287					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391																																					p.A286fs		.											.	CWC27-90	1	Deletion - Frameshift(1)	large_intestine(1)	c.858_859insA						.																																			SO:0001589	frameshift_variant	10283	exon10			AATTGCCAAAAAA	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.864dupA	5.37:g.64100139_64100139dupA	ENSP00000370460:p.Lys287fs	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	68	33	NM_005869	0	0	0	0	0	O60529|O60530|Q96EM3	Frame_Shift_Ins	INS	ENST00000381070.3	37	CCDS3982.2																																																																																			.		0.391	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		A	64100134	-	A	64100133	7	5	49	1	0	1	1	0	0	0	0	0	4079	581	21	0	896	0	CWC27	5	64100133	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	21060510	64100133	116815127	81	10105											
SPATA9	83890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	94994526	94994526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcagaaaaggcttttctaCaattttcactctcctctctg	5	12	5	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:94994526C>A	ENST00000274432.8	-	5	707	c.566G>T	c.(565-567)tGt>tTt	p.C189F	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	189					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGCTTTTCTACAATTTTCACT	0.418																																					p.C189F		.											.	SPATA9-90	0			c.G566T						.						128	118	122					5																	94994526		2203	4299	6502	SO:0001583	missense	83890	exon5			TTTCTACAATTTT	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.566G>T	5.37:g.94994526C>A	ENSP00000274432:p.Cys189Phe	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	62	29	NM_031952	0	0	0	1	1	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.211196	0.01555	.	.	ENSG00000145757	ENST00000274432	T	0.27720	1.65	5.35	-2.74	0.05932	.	1.210010	0.05721	N	0.597837	T	0.10508	0.0257	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	10	0.13470	T	0.59	0.0316	5.6577	0.17652	0.3111:0.3154:0.3735:0.0	.	189	Q9BWV2	SPAT9_HUMAN	F	189	ENSP00000274432:C189F	ENSP00000274432:C189F	C	-	2	0	SPATA9	95020282	0.012000	0.17670	0.000000	0.03702	0.005000	0.04900	0.399000	0.20916	-0.645000	0.05458	-0.291000	0.09656	TGT	.		0.418	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		A	94994526	C	A	94994526	3	1	49	1	0	0	0	0	1	0	0	0	15063	478	17	3	202	3	SPATA9	5	94994526	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	30894393	94994526	85920734	82	10106											
MCC	4163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	112720886	112720886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttccatattcagctggCgacagaccattagcaagtca	7	12	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:112720886C>T	ENST00000408903.3	-	2	609	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCAGCTGGCGACAGACCAT	0.408																																					p.R65H		.											.	MCC-69	0			c.G194A						.						116	105	109					5																	112720886		1902	4122	6024	SO:0001583	missense	4163	exon2			AGCTGGCGACAGA		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.194G>A	5.37:g.112720886C>T	ENSP00000386227:p.Arg65His	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	260	108	NM_001085377	0	0	0	0	0	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171644	0.78452	.	.	ENSG00000171444	ENST00000408903	T	0.71934	-0.61	4.45	3.58	0.41010	.	0.000000	0.51477	D	0.000095	T	0.59445	0.2194	.	.	.	0.32587	N	0.527659	B	0.15719	0.014	B	0.06405	0.002	T	0.64504	-0.6392	9	0.46703	T	0.11	-12.7526	11.7507	0.51847	0.0:0.9115:0.0:0.0885	.	65	P23508-2	.	H	65	ENSP00000386227:R65H	ENSP00000386227:R65H	R	-	2	0	MCC	112748785	1.000000	0.71417	0.956000	0.39512	0.912000	0.54170	5.417000	0.66423	1.191000	0.43056	0.650000	0.86243	CGC	.		0.408	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		T	112720886	C	T	112720886	3	4	49	1	0	0	0	0	1	0	0	0	9411	768	27	1	2998	1	MCC	5	112720886	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	17726360	112720886	68194374	83	10107											
AQPEP	206338	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	115335468	115335468	+	Frame_Shift_Del	DEL	T	T	-													ttcctttatagaatgagatcTttttttctaacattttacat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:115335468delT	ENST00000357872.4	+	7	1508	c.1384delT	c.(1384-1386)tttfs	p.F463fs	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		463						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GAATGAGATCTTTTTTTCTAA	0.363																																					p.F462fs		.											.	.	0			c.1384delT						.						53	56	55					5																	115335468		2201	4300	6501	SO:0001589	frameshift_variant	0	exon7			GAGATCTTTTTTT																												ENST00000357872.4:c.1384delT	5.37:g.115335468delT	ENSP00000350541:p.Phe463fs	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	200	92	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Frame_Shift_Del	DEL	ENST00000357872.4	37	CCDS4124.1																																																																																			.		0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			-	115335468	T	-	115335468	7	5	49	1	0	1	0	1	0	0	0	0	834	1609	56	0	1410	0	AQPEP	5	115335468	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	2614582	115335468	65579792	84	10108											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	127728872	127728872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccggcccccacaccgGctcccccaacgccaggagaa	9	22	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:127728872G>A	ENST00000508053.1	-	16	2395	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	FBN2_ENST00000262464.4_Missense_Mutation_p.A474V|FBN2_ENST00000508989.1_Missense_Mutation_p.A441V			P35556	FBN2_HUMAN	fibrillin 2	474					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)		CCCCACACCGGCTCCCCCAAC	0.562																																					p.A474V		.											.	FBN2-146	0			c.C1421T						.						77	86	83					5																	127728872		2203	4300	6503	SO:0001583	missense	2201	exon10			ACACCGGCTCCCC	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.1421C>T	5.37:g.127728872G>A	ENSP00000424571:p.Ala474Val	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	126	61	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005257	0.07773	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.85773	-1.84;-1.84;-2.03	4.02	4.02	0.46733	.	0.087898	0.46442	D	0.000282	T	0.70211	0.3198	N	0.08118	0	0.35137	D	0.768509	B;B	0.26935	0.164;0.164	B;B	0.19946	0.027;0.027	T	0.70378	-0.4888	10	0.14656	T	0.56	.	17.4572	0.87610	0.0:0.0:1.0:0.0	.	441;474	D6RJI3;P35556	.;FBN2_HUMAN	V	474;474;441	ENSP00000262464:A474V;ENSP00000424571:A474V;ENSP00000425596:A441V	ENSP00000262464:A474V	A	-	2	0	FBN2	127756771	1.000000	0.71417	0.964000	0.40570	0.045000	0.14185	4.097000	0.57741	2.516000	0.84829	0.563000	0.77884	GCC	.		0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127728872	G	A	127728872	3	1	49	1	0	0	0	0	1	0	0	0	5725	1203	42	3	7541	3	FBN2	5	127728872	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	12393404	127728872	53186388	85	10109											
PCDHA10	56139	bcgsc.ca	37	chr5	140237079	140237079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctgcgtgggacgcggaCgcgcaggagaacgccctggt	18	11	1	1	rs189056024		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:140237079C>T	ENST00000307360.5	+	1	1446	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D482D|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCGGACGCGCAGGAGA	0.662																																					p.D482D		.											.	PCDHA10-99	0			c.C1446T						.						85	84	85					5																	140237079		2196	4273	6469	SO:0001819	synonymous_variant	56139	exon1			CGCGGACGCGCAG	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1446C>T	5.37:g.140237079C>T		Somatic	247	4		WXS	Illumina GAIIx	Phase_I	987	432	NM_031859	0	0	0	2	2	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	CCDS54921.1																																																																																			C|0.999;A|0.000		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140237079	C	T	140237079	2	4	49	1	0	0	0	0	0	0	0	1	11559	535	19	1		1	PCDHA10	5	140237079	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	12508207	140237079	40678181	86	10110											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	167674716	167674716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcggataaccagactcGgggatgtgcagtacaaaatt	13	7	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:167674716G>A	ENST00000518659.1	+	27	6811	c.6772G>A	c.(6772-6774)Ggg>Agg	p.G2258R	TENM2_ENST00000520394.1_Missense_Mutation_p.G2019R|TENM2_ENST00000519204.1_Missense_Mutation_p.G2137R|TENM2_ENST00000403607.2_Missense_Mutation_p.G2082R|TENM2_ENST00000545108.1_Missense_Mutation_p.G2257R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2258					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)										AACCAGACTCGGGGATGTGCA	0.512																																					p.G2249R		.											.	.	0			c.G6745A						.						55	57	56					5																	167674716		2116	4235	6351	SO:0001583	missense	57451	exon27			AGACTCGGGGATG	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.6772G>A	5.37:g.167674716G>A	ENSP00000429430:p.Gly2258Arg	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	190	36	NM_001122679	0	0	0	0	0	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	19.62	3.862656	0.71949	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93547	-2.77;-2.76;-2.96;-3.19;-3.24	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97237	0.9888	10	0.72032	D	0.01	.	19.5848	0.95486	0.0:0.0:1.0:0.0	.	2257;2258;2019	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	2258;2257;2137;2019;2082	ENSP00000429430:G2258R;ENSP00000438635:G2257R;ENSP00000428964:G2137R;ENSP00000427874:G2019R;ENSP00000384905:G2082R	ENSP00000384905:G2082R	G	+	1	0	ODZ2	167607294	1.000000	0.71417	0.145000	0.22337	0.796000	0.44982	9.869000	0.99810	2.636000	0.89361	0.561000	0.74099	GGG	.		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167674716	G	A	167674716	3	1	49	1	0	0	0	0	1	0	0	0	10874	1116	39	1	6851	1	ODZ2	5	167674716	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	27437637	167674716	13240544	87	10111											
ERGIC1	57222	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	172315747	172315747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaccttacgcagccaacGtacaccggggccattagtga	11	12	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:172315747G>A	ENST00000393784.3	+	2	205	c.66G>A	c.(64-66)acG>acA	p.T22T	ERGIC1_ENST00000523291.1_Silent_p.T22T|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	22					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCAGCCAACGTACACCGGGG	0.582																																					p.T22T		.											.	ERGIC1-93	0			c.G66A						.						193	140	158					5																	172315747		2203	4300	6503	SO:0001819	synonymous_variant	57222	exon2			GCCAACGTACACC	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.66G>A	5.37:g.172315747G>A		Somatic	165	1		WXS	Illumina GAIIx	Phase_I	346	133	NM_001031711	0	0	34	62	28	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	CCDS34292.1																																																																																			.		0.582	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		A	172315747	G	A	172315747	2	1	49	1	0	0	0	0	0	0	0	1	5239	1132	40	1		1	ERGIC1	5	172315747	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	4641031	172315747	8599513	88	10112											
CLTB	1212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	175824972	175824972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcctctcgccacttgCggatgctctcaggctcctgg	10	16	3	0	rs372564708		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:175824972C>T	ENST00000310418.4	-	3	516	c.311G>A	c.(310-312)cGc>cAc	p.R104H	CLTB_ENST00000345807.2_Missense_Mutation_p.R104H	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	104	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TCGCCACTTGCGGATGCTCTC	0.647																																					p.R104H		.											.	CLTB-90	0			c.G311A						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	99	96		311,311	4.3	1	5		96	0,8600		0,0,4300	no	missense,missense	CLTB	NM_001834.2,NM_007097.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	104/212,104/230	175824972	1,13005	2203	4300	6503	SO:0001583	missense	1212	exon3			CACTTGCGGATGC	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.311G>A	5.37:g.175824972C>T	ENSP00000309415:p.Arg104His	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	239	39	NM_001834	0	0	315	386	71	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147808	0.94603	2.27E-4	0.0	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000508425	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.90079	0.4169	9	0.87932	D	0	.	16.8322	0.85947	0.0:1.0:0.0:0.0	.	104;104	P09497-2;P09497	.;CLCB_HUMAN	H	104;104;70	.	ENSP00000309415:R104H	R	-	2	0	CLTB	175757578	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.402000	0.79972	1.950000	0.56595	0.455000	0.32223	CGC	.		0.647	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			T	175824972	C	T	175824972	3	4	49	1	0	0	0	0	1	0	0	0	3572	768	27	1	394	1	CLTB	5	175824972	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	3509225	175824972	5090288	89	10113											
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176687121	176687121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctaggcggggctgcCgaaatcatgagcatgttaat	11	10	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:176687121C>T	ENST00000439151.2	+	14	5143	c.5098C>T	c.(5098-5100)Cga>Tga	p.R1700*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1597*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1431*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1700					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)		GCGGGGCTGCCGAAATCATGA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1700X		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.C5098T	GRCh37	CM074953	NSD1	M		.						77	72	74					5																	176687121		2203	4300	6503	SO:0001587	stop_gained	64324	exon14	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	GGCTGCCGAAATC	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.5098C>T	5.37:g.176687121C>T	ENSP00000395929:p.Arg1700*	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	205	28	NM_022455	0	0	3	4	1	Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	44	10.672971	0.99447	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	4.6	0.57074	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2749	0.66173	0.2826:0.7174:0.0:0.0	.	.	.	.	X	1431;1700;1431;1597	.	ENSP00000343209:R1431X	R	+	1	2	NSD1	176619727	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.842000	0.39250	2.752000	0.94435	0.467000	0.42956	CGA	.		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176687121	C	T	176687121	4	4	49	1	0	0	0	0	0	1	0	0	10708	644	23	1	5148	1	NSD1	5	176687121	Nonsense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	862149	176687121	4228139	90	10114											
RASGEF1C	255426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	179564923	179564923	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggtgctggatcagtgtttCcagggaggctgaggatggcg	18	7	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr5:179564923C>A	ENST00000393371.2	-	1	426	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Nonsense_Mutation_p.E44*|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	44	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGTGTTTCCAGGGAGGCT	0.682																																					p.E44X		.											.	RASGEF1C-228	0			c.G130T						.						57	52	54					5																	179564923		2202	4300	6502	SO:0001587	stop_gained	255426	exon2			GTGTTTCCAGGGA	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.130G>T	5.37:g.179564923C>A	ENSP00000377037:p.Glu44*	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	388	66	NM_175062	0	0	0	0	0	D3DWQ7|Q7Z4T0|Q8NA49	Nonsense_Mutation	SNP	ENST00000393371.2	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341534	0.98224	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	.	.	.	4.44	4.44	0.53790	.	0.111023	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.0269	0.80550	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000354963:E44X	E	-	1	0	RASGEF1C	179497529	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.031000	0.76491	2.193000	0.70182	0.511000	0.50034	GAA	.		0.682	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		A	179564923	C	A	179564923	4	1	49	1	0	0	0	0	0	1	0	0	13116	864	30	3	1322	3	RASGEF1C	5	179564923	Nonsense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2877802	179564923	1350337	91	10115											
EHMT2	10919	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-													cctcttcctcctcctcttccTcttcttcttcttcctcctct					rs138941874		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:31857309_31857311delTCT	ENST00000375537.4	-	8	939_941	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_ENST00000375530.4_In_Frame_Del_p.311_312EE>E|EHMT2_ENST00000395728.3_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.368_369EE>E	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				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						ctcctcttcctcttcttcttctt	0.493																																					p.311_312del		.											.	EHMT2-91	0			c.933_935del						.																																			SO:0001651	inframe_deletion	10919	exon8			TCTTCCTCTTCTT	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.933_935delAGA	6.37:g.31857318_31857320delTCT	ENSP00000364687:p.Glu323del	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	52	10	NM_025256	0	0	0	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	In_Frame_Del	DEL	ENST00000375537.4	37	CCDS4725.1																																																																																			.		0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		-	31857311	TCT	-	31857309	7	5	49	1	0	1	0	1	0	0	0	0	4998	1551	54	0	2781	0	EHMT2	6	31857309	In_Frame_Del	DEL	TCT	TCGA-OR-A5LB-01A-11D-A29I-10		31857309	139257758	92	10116											
BTNL2	56244	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	32370751	32370751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctcctcagtgaggaCggggttgtggaccaagcagg	14	12	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:32370751C>T	ENST00000374993.1	-	3	669	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V224I|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	224	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.V224I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGTGAGGACGGGGTTGTGG	0.592																																					p.V224I		.											.	BTNL2-90	1	Substitution - Missense(1)	large_intestine(1)	c.G670A						.						73	61	65					6																	32370751		1511	2708	4219	SO:0001583	missense	56244	exon3			TGAGGACGGGGTT	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.670G>A	6.37:g.32370751C>T	ENSP00000364132:p.Val224Ile	Somatic	178	2		WXS	Illumina GAIIx	Phase_I	182	159	NM_019602	0	0	0	0	0	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544595	0.04024	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.75589	-0.95	4.71	-5.73	0.02398	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.451450	0.04328	N	0.351912	T	0.18718	0.0449	N	0.05487	-0.04	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.06570	-1.0819	10	0.07482	T	0.82	.	1.9694	0.03402	0.1228:0.378:0.2442:0.255	.	224	Q9UIR0	BTNL2_HUMAN	I	224	ENSP00000364132:V224I	ENSP00000364132:V224I	V	-	1	0	BTNL2	32478729	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-2.170000	0.01268	-0.689000	0.05149	-0.172000	0.13284	GTC	.		0.592	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		T	32370751	C	T	32370751	3	4	49	1	0	0	0	0	1	0	0	0	1569	536	19	1	713	1	BTNL2	6	32370751	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	513442	32370751	138744316	93	10117											
HLA-DQB1	3119	bcgsc.ca	37	chr6	32628022	32628022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaggagtcagtgcagAagccctggagaagagagaag	15	7	2	4	rs1140347	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:32628022A>G	ENST00000399082.3	-	3	440	c.396T>C	c.(394-396)ctT>ctC	p.L132L	HLA-DQB1_ENST00000399079.3_Silent_p.L222L|HLA-DQB1_ENST00000434651.2_Silent_p.L259L|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399084.1_Silent_p.L259L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000460185.1_5'UTR|HLA-DQB1_ENST00000374943.4_Silent_p.L267L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	0	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	GTCAGTGCAGAAGCCCTGGAG	0.542									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.L267L	Esophageal Squamous(151;720 1825 15000 40336 43415)	.											.	HLA-DQB1-22	0			c.T801C						.						67	62	64					6																	32628022		1986	4056	6042	SO:0001819	synonymous_variant	3119	exon6	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	GTGCAGAAGCCCT		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.396T>C	6.37:g.32628022A>G		Somatic	81	1		WXS	Illumina GAIIx	Phase_I	14	5	NM_001243961	0	0	0	0	0	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																				A|0.440;G|0.560		0.542	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		G	32628022	A	G	32628022	2	3	49	1	0	0	0	0	0	0	0	1	7233	233	9	4		4	HLA-DQB1	6	32628022	Silent	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	257271	32628022	138487045	94	10118											
B3GALT4	8705	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33245779	33245779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtcttgcgagggggcCgttgggggcaatgggagaga	21	6	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:33245779C>T	ENST00000451237.1	+	1	863	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	195					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCGAGGGGGCCGTTGGGGGCA	0.577																																					p.R195C		.											.	B3GALT4-68	0			c.C583T						.						66	72	70					6																	33245779		2203	4300	6503	SO:0001583	missense	8705	exon1			GGGGGCCGTTGGG	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.583C>T	6.37:g.33245779C>T	ENSP00000390784:p.Arg195Cys	Somatic	101	1		WXS	Illumina GAIIx	Phase_I	125	111	NM_003782	0	0	2	15	13		Missense_Mutation	SNP	ENST00000451237.1	37	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462134	0.63513	.	.	ENSG00000235863	ENST00000451237	T	0.46819	0.86	4.5	3.58	0.41010	.	.	.	.	.	T	0.30696	0.0773	L	0.43152	1.355	0.37223	D	0.905342	D	0.58620	0.983	P	0.44394	0.448	T	0.24333	-1.0163	9	0.56958	D	0.05	.	12.3514	0.55151	0.0:0.8296:0.1704:0.0	.	195	O96024	B3GT4_HUMAN	C	195	ENSP00000390784:R195C	ENSP00000390784:R195C	R	+	1	0	B3GALT4	33353757	0.036000	0.19791	0.933000	0.37362	0.899000	0.52679	1.574000	0.36482	2.338000	0.79540	0.643000	0.83706	CGT	.		0.577	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			T	33245779	C	T	33245779	3	4	49	1	0	0	0	0	1	0	0	0	1250	652	23	1	585	1	B3GALT4	6	33245779	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	617757	33245779	137869288	95	10119											
DAXX	1616	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	33288228	33288232	+	Frame_Shift_Del	DEL	TCTTT	TCTTT	-													gccttggagccgagctcttcTcttttttctctcgccctcct							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TCTTT	TCTTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:33288228_33288232delTCTTT	ENST00000374542.5	-	4	1380_1384	c.1176_1180delAAAGA	c.(1174-1182)aaaaagagafs	p.KR393fs	DAXX_ENST00000414083.2_Frame_Shift_Del_p.KR318fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Frame_Shift_Del_p.KR393fs|ZBTB22_ENST00000418724.1_5'Flank|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	393	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						CGAGCTCTTCTCTTTTTTCTCTCGC	0.546			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.404_406del		.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	.	DAXX-731	0			c.1212_1216del						.																																			SO:0001589	frameshift_variant	1616	exon4			CTCTTCTCTTTTT	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.1176_1180delAAAGA	6.37:g.33288228_33288232delTCTTT	ENSP00000363668:p.Lys393fs	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	48	41	NM_001141970	0	0	0	0	0	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	CCDS4776.1																																																																																			.		0.546	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			-	33288232	TCTTT	-	33288228	7	5	49	1	0	1	0	1	0	0	0	0	4252	1559	54	0	1062	0	DAXX	6	33288228	Frame_Shift_Del	DEL	TCTTT	TCGA-OR-A5LB-01A-11D-A29I-10	42449	33288228	137826839	96	10120											
KLHL31	401265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	53519456	53519456	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaagtttcataaactgatcCgattctgcaaattcaaggaa	7	7	3	1	rs114605120	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:53519456C>A	ENST00000407079.1	-	1	614	c.615G>T	c.(613-615)tcG>tcT	p.S205S	KLHL31_ENST00000370905.3_Silent_p.S205S			Q9H511	KLH31_HUMAN	kelch-like family member 31	205	BACK.				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)					TAAACTGATCCGATTCTGCAA	0.343																																					p.S205S		.											.	KLHL31-23	0			c.G615T						.						80	81	81					6																	53519456		2203	4300	6503	SO:0001819	synonymous_variant	401265	exon2			CTGATCCGATTCT		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.615G>T	6.37:g.53519456C>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	56	48	NM_001003760	0	0	0	0	0	A6N9J2|B2RP49	Silent	SNP	ENST00000407079.1	37	CCDS34478.1																																																																																			C|0.999;T|0.001		0.343	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53519456	C	A	53519456	2	1	49	1	0	0	0	0	0	0	0	1	8412	639	23	2		2	KLHL31	6	53519456	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	20231228	53519456	117595611	97	10121											
C6orf168	84553	broad.mit.edu;bcgsc.ca	37	chr6	99771340	99771340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaagccctgctaaagacCgcatgtccttctccatcagc	6	16	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:99771340C>T	ENST00000389677.5	-	4	1085	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	268						integral component of membrane (GO:0016021)											TGCTAAAGACCGCATGTCCTT	0.438																																					p.R268Q		.											.	.	0			c.G803A						.						62	47	53					6																	99771340		2203	4300	6503	SO:0001583	missense	84553	exon4			AAAGACCGCATGT	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.803G>A	6.37:g.99771340C>T	ENSP00000374328:p.Arg268Gln	Somatic	110	2		WXS	Illumina GAIIx	Phase_I	88	81	NM_032511	0	0	0	0	0	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656083	0.88056	.	.	ENSG00000146267	ENST00000389677	T	0.46451	0.87	5.6	5.6	0.85130	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	M	0.63843	1.955	0.80722	D	1	P	0.47841	0.901	B	0.36959	0.237	T	0.20273	-1.0280	10	0.38643	T	0.18	-1.9264	19.6104	0.95604	0.0:1.0:0.0:0.0	.	268	Q5TGI0	CF168_HUMAN	Q	268	ENSP00000374328:R268Q	ENSP00000374328:R268Q	R	-	2	0	C6orf168	99878061	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.288000	0.78691	2.634000	0.89283	0.650000	0.86243	CGG	.		0.438	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		T	99771340	C	T	99771340	3	4	49	1	0	0	0	0	1	0	0	0	2350	652	23	1	438	1	C6orf168	6	99771340	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	46251884	99771340	71343727	98	10122											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	152751308	152751308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatattttaattggaacaGcaagtttatcttcaaattca	4	6	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr6:152751308G>A	ENST00000367255.5	-	36	5328	c.4727C>T	c.(4726-4728)gCt>gTt	p.A1576V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A1583V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1646V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1576V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1576V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1583V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1576					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)		AATTGGAACAGCAAGTTTATC	0.303										HNSCC(10;0.0054)																											p.A1583V		.											.	SYNE1-607	0			c.C4748T						.						56	53	54					6																	152751308		2201	4291	6492	SO:0001583	missense	23345	exon36			GGAACAGCAAGTT	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.4727C>T	6.37:g.152751308G>A	ENSP00000356224:p.Ala1576Val	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	119	109	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189210	0.38707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.97	2.87	0.33458	.	0.638247	0.14715	N	0.302686	T	0.24774	0.0601	L	0.43152	1.355	0.80722	D	1	P;B;P;B;B	0.45827	0.791;0.222;0.867;0.222;0.33	B;B;B;B;B	0.35971	0.154;0.058;0.215;0.058;0.124	T	0.04360	-1.0957	10	0.30854	T	0.27	.	12.563	0.56293	0.0:0.0995:0.633:0.2675	.	1559;1576;1576;1576;1583	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1576;1583;1576;1583;1646;1576	ENSP00000356224:A1576V;ENSP00000396024:A1583V;ENSP00000265368:A1576V;ENSP00000390975:A1583V;ENSP00000341887:A1646V;ENSP00000356222:A1576V	ENSP00000265368:A1576V	A	-	2	0	SYNE1	152793001	0.767000	0.28508	1.000000	0.80357	0.997000	0.91878	0.475000	0.22164	0.811000	0.34303	0.650000	0.86243	GCT	.		0.303	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152751308	G	A	152751308	3	1	49	1	0	0	0	0	1	0	0	0	15492	971	34	3	22183	3	SYNE1	6	152751308	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	52979968	152751308	18363759	99	10123											
PMS2	5395	broad.mit.edu;bcgsc.ca	37	chr7	6026767	6026767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatctgaaaaagagtcGtcagttttaggcgctttctc	8	10	3	2	rs111673299		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:6026767G>A	ENST00000265849.7	-	11	1734	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	PMS2_ENST00000441476.2_Silent_p.D437D|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.D543D	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	543					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAAAAGAGTCGTCAGTTTTAG	0.527			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.D543D		.	yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2-1083	0			c.C1629T						.						94	101	99					7																	6026767		2203	4299	6502	SO:0001819	synonymous_variant	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	AGAGTCGTCAGTT		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1629C>T	7.37:g.6026767G>A		Somatic	69	2		WXS	Illumina GAIIx	Phase_I	161	74	NM_000535	0	0	0	3	3	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																			A|1.000;|0.000		0.527	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		A	6026767	G	A	6026767	2	1	49	1	0	0	0	0	0	0	0	1	12182	1136	40	1		1	PMS2	7	6026767	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		6026767	153111896	100	10124											
TMEM196	256130	hgsc.bcm.edu;broad.mit.edu	37	chr7	19769017	19769017	+	Frame_Shift_Del	DEL	T	T	-													acacttacgacaagtcctgaTttttttttggcacacaatat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:19769017delT	ENST00000405764.3	-	2	888	c.192delA	c.(190-192)aaafs	p.K64fs	TMEM196_ENST00000493519.1_5'UTR|TMEM196_ENST00000422233.1_5'UTR|TMEM196_ENST00000433641.1_5'UTR|TMEM196_ENST00000405844.1_Frame_Shift_Del_p.K64fs	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	70						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CAAGTCCTGATTTTTTTTTGG	0.353																																					p.K64fs		.											.	TMEM196-22	0			c.192delA						.			11,11,1946		3,0,5,4,3,969	161	137	144			5.4	1	7		148	5,6,4003		0,0,5,0,6,1996	no	codingComplex	TMEM196	NM_152774.3		3,0,10,4,9,2965	A1A1,A1A2,A1R,A2A2,A2R,RR		0.274,1.1179,0.5517			19769017	16,17,5949	692	1591	2283	SO:0001589	frameshift_variant	256130	exon2			TCCTGATTTTTTT		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.192delA	7.37:g.19769017delT	ENSP00000384234:p.Lys64fs	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	94	40	NM_152774	0	0	0	0	0	Q8N6I6	Frame_Shift_Del	DEL	ENST00000405764.3	37	CCDS34607.2																																																																																			.		0.353	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		-	19769017	T	-	19769017	7	5	49	1	0	1	0	1	0	0	0	0	16165	1490	52	0	338	0	TMEM196	7	19769017	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	13742250	19769017	139369646	101	10125											
TNS3	64759	hgsc.bcm.edu;bcgsc.ca	37	chr7	47385878	47385878	+	Frame_Shift_Del	DEL	C	C	-													catttggagaagggcagctgCcccccagcatcgttgtcgta							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:47385878delC	ENST00000398879.1	-	18	2724	c.2358delG	c.(2356-2358)gggfs	p.G786fs	TNS3_ENST00000355730.3_Frame_Shift_Del_p.G546fs|TNS3_ENST00000311160.9_Frame_Shift_Del_p.G786fs			Q68CZ2	TENS3_HUMAN	tensin 3	786					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						AGGGCAGCTGCCCCCCAGCAT	0.602																																					p.G786fs		.											.	TNS3-94	0			c.2358delG						.						69	73	71					7																	47385878		1996	4159	6155	SO:0001589	frameshift_variant	64759	exon18			CAGCTGCCCCCCA	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.2358delG	7.37:g.47385878delC	ENSP00000381854:p.Gly786fs	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	169	82	NM_022748	0	0	0	0	0	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Frame_Shift_Del	DEL	ENST00000398879.1	37	CCDS5506.2																																																																																			.		0.602	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		-	47385878	C	-	47385878	7	5	49	1	0	1	0	1	0	0	0	0	16391	726	26	0	2035	0	TNS3	7	47385878	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	27616861	47385878	111752785	102	10126											
ABCA13	154664	bcgsc.ca;mdanderson.org	37	chr7	48311657	48311657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactcttggaatttggcaaCgaagtgatttggaaaatgca	10	5	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:48311657C>T	ENST00000435803.1	+	17	2418	c.2394C>T	c.(2392-2394)aaC>aaT	p.N798N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	798					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N798N(1)|p.N743N(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						AATTTGGCAACGAAGTGATTT	0.343																																					p.N798N		.											.	ABCA13-521	2	Substitution - coding silent(2)	kidney(2)	c.C2394T						.						42	41	41					7																	48311657		1841	4100	5941	SO:0001819	synonymous_variant	154664	exon17			TGGCAACGAAGTG	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.2394C>T	7.37:g.48311657C>T		Somatic	27	1		WXS	Illumina GAIIx	Phase_I	103	43	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48311657	C	T	48311657	2	4	49	1	0	0	0	0	0	0	0	1	31	535	19	1		1	ABCA13	7	48311657	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	925779	48311657	110827006	103	10127											
ZPBP	11055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	50129273	50129273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgaatctttggtcaagcGaaaagctcttggtaatcgaa	9	8	3	1	rs200921057		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:50129273G>A	ENST00000046087.2	-	2	229	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R54C	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	54					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)		p.R54C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTGGTCAAGCGAAAAGCTCTT	0.274																																					p.R54C		.											.	ZPBP-90	1	Substitution - Missense(1)	NS(1)	c.C160T						.						34	35	35					7																	50129273		2203	4298	6501	SO:0001583	missense	11055	exon2			TCAAGCGAAAAGC	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.160C>T	7.37:g.50129273G>A	ENSP00000046087:p.Arg54Cys	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	202	86	NM_007009	0	0	0	0	0	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547047	0.45383	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.53206	0.63;0.63;1.42	5.23	-0.0983	0.13629	Immunoglobulin-like (1);	1.292310	0.05140	N	0.494132	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	D;D	0.67145	0.996;0.996	B;B	0.43575	0.424;0.424	T	0.34750	-0.9816	9	.	.	.	-0.0431	3.1129	0.06365	0.0878:0.1448:0.3225:0.4449	.	54;54	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	54;54;15	ENSP00000046087:R54C;ENSP00000402071:R54C;ENSP00000390054:R15C	.	R	-	1	0	ZPBP	50099819	0.000000	0.05858	0.003000	0.11579	0.878000	0.50629	0.297000	0.19101	0.284000	0.22305	0.557000	0.71058	CGC	G|0.999;T|0.001		0.274	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		A	50129273	G	A	50129273	3	1	49	1	0	0	0	0	1	0	0	0	18267	1058	37	1	923	1	ZPBP	7	50129273	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1817616	50129273	109009390	104	10128											
GTF2IRD1	9569	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	73944069	73944069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtctttccagcggaaGccctgggcctggaccacatg	13	12	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:73944069G>A	ENST00000265755.3	+	9	1489	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A366T|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.A366T|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A398T	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	366					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						TCCAGCGGAAGCCCTGGGCCT	0.627																																					p.A398T		.											.	GTF2IRD1-94	0			c.G1192A						.						67	55	59					7																	73944069		2203	4300	6503	SO:0001583	missense	9569	exon9			GCGGAAGCCCTGG	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.1096G>A	7.37:g.73944069G>A	ENSP00000265755:p.Ala366Thr	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	112	24	NM_001199207	0	0	0	0	0	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	g	33	5.240314	0.95240	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.81802	2.56	0.80722	D	1	D;P;D;D	0.89917	1.0;0.944;0.993;0.989	D;P;D;P	0.91635	0.999;0.724;0.954;0.849	D	0.85698	0.1311	10	0.87932	D	0	-25.1016	16.4644	0.84074	0.0:0.0:1.0:0.0	.	398;366;366;366	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	T	366;398;366;366	ENSP00000265755:A366T;ENSP00000397566:A398T;ENSP00000408477:A366T;ENSP00000418383:A366T	ENSP00000265755:A366T	A	+	1	0	GTF2IRD1	73582005	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.080000	0.94040	2.214000	0.71695	0.457000	0.33378	GCC	.		0.627	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		A	73944069	G	A	73944069	3	1	49	1	0	0	0	0	1	0	0	0	6895	971	34	3	1126	3	GTF2IRD1	7	73944069	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	23814796	73944069	85194594	105	10129											
DTX2	113878	broad.mit.edu	37	chr7	76112242	76112242	+	Frame_Shift_Del	DEL	A	A	-													tgcataccccgtcccccagcAccccccacacaggaccgctt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:76112242delA	ENST00000324432.5	+	5	1196	c.686delA	c.(685-687)cacfs	p.H229fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.H138fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.H229fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.H229fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.H229fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.H229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	229					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACAC	0.652																																					p.H229fs		.											.	DTX2-524	0			c.686delA						.						127	131	129					7																	76112242		2203	4300	6503	SO:0001589	frameshift_variant	113878	exon2			CCCAGCACCCCCC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.686delA	7.37:g.76112242delA	ENSP00000322885:p.His229fs	Somatic	496	0		WXS	Illumina GAIIx	Phase_I	1156	9	NM_001102596	0	0	0	0	0	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	CCDS5587.1																																																																																			.		0.652	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			-	76112242	A	-	76112242	7	5	49	1	0	1	0	1	0	0	0	0	4808	159	6	0	692	0	DTX2	7	76112242	Frame_Shift_Del	DEL	A	TCGA-OR-A5LB-01A-11D-A29I-10	2168173	76112242	83026421	106	10130											
TMEM130	222865	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	98452922	98452923	+	Frame_Shift_Ins	INS	-	-	A													tctgaattagggtgggccccINSaacacttggatgcctcgaag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:98452922_98452923insA	ENST00000416379.2	-	5	747_748	c.743_744insT	c.(742-744)ttgfs	p.L248fs	TMEM130_ENST00000339375.4_Frame_Shift_Ins_p.L248fs|TMEM130_ENST00000450876.1_Frame_Shift_Ins_p.L164fs|TMEM130_ENST00000345589.4_Frame_Shift_Ins_p.L146fs|TMEM130_ENST00000546258.1_Frame_Shift_Ins_p.L229fs			Q8N3G9	TM130_HUMAN	transmembrane protein 130	248						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTGGGCCCCAACACTTGGAT	0.589																																					p.L248fs		.											.	TMEM130-91	0			c.744_745insT						.																																			SO:0001589	frameshift_variant	222865	exon5			GGGCCCCAACACT		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.744dupT	7.37:g.98452924_98452924dupA	ENSP00000413163:p.Leu248fs	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	256	41	NM_152913	0	0	0	0	0	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Frame_Shift_Ins	INS	ENST00000416379.2	37	CCDS47650.1																																																																																			.		0.589	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		A	98452923	-	A	98452922	7	5	49	1	0	1	1	0	0	0	0	0	16090	593	21	0	579	0	TMEM130	7	98452922	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	22340680	98452922	60685741	107	10131											
ACHE	43	hgsc.bcm.edu	37	chr7	100491127	100491127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcggggacagcaggtGcatgcccaccgaggcggctc	18	13	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:100491127G>A	ENST00000412389.1	-	1	882	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ACHE_ENST00000302913.4_Missense_Mutation_p.H243Y|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.H243Y|ACHE_ENST00000419336.2_Missense_Mutation_p.H243Y|ACHE_ENST00000428317.1_Missense_Mutation_p.H243Y|ACHE_ENST00000241069.5_Missense_Mutation_p.H243Y			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	243					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)	GACAGCAGGTGCATGCCCACC	0.716																																					p.H243Y		.											.	ACHE-92	0			c.C727T						.						27	30	29					7																	100491127		2200	4292	6492	SO:0001583	missense	43	exon2			GCAGGTGCATGCC		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.727C>T	7.37:g.100491127G>A	ENSP00000394976:p.His243Tyr	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	46	26	NM_000665	0	0	2	2	0	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380239	0.42207	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.26	4.37	0.52481	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	H	0.94306	3.52	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;0.998;0.999;1.0	D	0.89343	0.3655	10	0.87932	D	0	.	11.2625	0.49091	0.0903:0.0:0.9097:0.0	.	243;243;243;243	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Y	243	ENSP00000403474:H243Y;ENSP00000241069:H243Y;ENSP00000414858:H243Y;ENSP00000303211:H243Y;ENSP00000394976:H243Y;ENSP00000397143:H243Y;ENSP00000399725:H243Y;ENSP00000404865:H243Y	ENSP00000241069:H243Y	H	-	1	0	ACHE	100329063	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	9.492000	0.97957	1.198000	0.43158	0.491000	0.48974	CAC	.		0.716	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		A	100491127	G	A	100491127	3	1	49	1	0	0	0	0	1	0	0	0	141	1319	46	3	1268	3	ACHE	7	100491127	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2038205	100491127	58647536	108	10132											
PPP1R3A	5506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	113519565	113519565	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaattttttctttgtttttCattaacacctaaatatattc	2	6	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:113519565C>A	ENST00000284601.3	-	4	1650	c.1582G>T	c.(1582-1584)Gaa>Taa	p.E528*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	528					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						CTTTGTTTTTCATTAACACCT	0.348																																					p.E528X		.											.	PPP1R3A-832	0			c.G1582T						.						75	69	71					7																	113519565		2203	4299	6502	SO:0001587	stop_gained	5506	exon4			GTTTTTCATTAAC	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.1582G>T	7.37:g.113519565C>A	ENSP00000284601:p.Glu528*	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	61	10	NM_002711	0	0	0	0	0	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937465	0.52972	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.02	5.14	0.70334	.	0.173070	0.41097	D	0.000947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.3817	7.8016	0.29178	0.0:0.7859:0.0:0.2141	.	.	.	.	X	528	.	ENSP00000284601:E528X	E	-	1	0	PPP1R3A	113306801	0.965000	0.33210	0.680000	0.29994	0.192000	0.23643	1.132000	0.31418	1.566000	0.49654	0.655000	0.94253	GAA	.		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113519565	C	A	113519565	4	1	49	1	0	0	0	0	0	1	0	0	12413	835	29	3	1790	3	PPP1R3A	7	113519565	Nonsense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	13028438	113519565	45619098	109	10133											
CPA1	1357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	130020366	130020366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccggcagcagcatgcGggggttgctggtgttgagtg	17	11	0	1	rs145988366	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:130020366G>A	ENST00000011292.3	+	1	155	c.5G>A	c.(4-6)cGg>cAg	p.R2Q	CPA1_ENST00000484324.1_5'Flank	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	2					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCAGCATGCGGGGGTTGCTG	0.627																																					p.R2Q		.											.	CPA1-91	0			c.G5A						.	G	GLN/ARG	0,4406		0,0,2203	75	73	73		5	-4.6	0	7	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CPA1	NM_001868.2	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	2/420	130020366	3,13003	2203	4300	6503	SO:0001583	missense	1357	exon1			GCATGCGGGGGTT		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.5G>A	7.37:g.130020366G>A	ENSP00000011292:p.Arg2Gln	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	53	34	NM_001868	0	0	0	0	0	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986966	0.35036	0.0	3.49E-4	ENSG00000091704	ENST00000011292	T	0.12147	2.71	5.14	-4.57	0.03421	.	0.379591	0.31673	N	0.007259	T	0.08891	0.0220	L	0.43757	1.38	0.09310	N	0.999993	B	0.10296	0.003	B	0.04013	0.001	T	0.15809	-1.0424	10	0.52906	T	0.07	.	6.8333	0.23923	0.5871:0.0:0.2927:0.1202	.	2	P15085	CBPA1_HUMAN	Q	2	ENSP00000011292:R2Q	ENSP00000011292:R2Q	R	+	2	0	CPA1	129807602	0.000000	0.05858	0.048000	0.18961	0.312000	0.27988	-0.962000	0.03841	-0.739000	0.04809	0.462000	0.41574	CGG	G|1.000;A|0.000		0.627	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		A	130020366	G	A	130020366	3	1	49	1	0	0	0	0	1	0	0	0	3796	1116	39	1	7	1	CPA1	7	130020366	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	16500801	130020366	29118297	110	10134											
CPA1	1357	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	130021521	130021521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccccatcgacgtccgAgtgcccttccccagcatcca	8	20	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:130021521A>G	ENST00000011292.3	+	3	348	c.198A>G	c.(196-198)cgA>cgG	p.R66R	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	66					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCGACGTCCGAGTGCCCTTCC	0.667																																					p.R66R		.											.	CPA1-91	0			c.A198G						.						57	45	49					7																	130021521		2203	4300	6503	SO:0001819	synonymous_variant	1357	exon3			CGTCCGAGTGCCC		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.198A>G	7.37:g.130021521A>G		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	288	127	NM_001868	0	0	0	0	0	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																			.		0.667	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		G	130021521	A	G	130021521	2	3	49	1	0	0	0	0	0	0	0	1	3796	291	11	4		4	CPA1	7	130021521	Silent	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	1155	130021521	29117142	111	10135											
EXOC4	60412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	132959896	132959896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagagcatcacagagcgCatcactaactcccgaaataa	6	13	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:132959896C>T	ENST00000253861.4	+	2	275	c.246C>T	c.(244-246)cgC>cgT	p.R82R	EXOC4_ENST00000393161.2_Silent_p.R82R|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCACAGAGCGCATCACTAACT	0.473																																					p.R82R		.											.	EXOC4-159	0			c.C246T						.						112	101	105					7																	132959896		2203	4300	6503	SO:0001819	synonymous_variant	60412	exon2			AGAGCGCATCACT	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.246C>T	7.37:g.132959896C>T		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	362	148	NM_021807	0	0	5	9	4	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	CCDS5829.1																																																																																			.		0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		T	132959896	C	T	132959896	2	4	49	1	0	0	0	0	0	0	0	1	5322	697	25	3		3	EXOC4	7	132959896	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2938375	132959896	26178767	112	10136											
PARP12	64761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139726084	139726084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaatggcgctggtgcCgtggaacagctgccgctcgt	13	12	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:139726084C>T	ENST00000263549.3	-	11	2566	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	565	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCGCTGGTGCCGTGGAACAGC	0.562																																					p.G565S		.											.	PARP12-525	0			c.G1693A						.						89	83	85					7																	139726084		2203	4300	6503	SO:0001583	missense	64761	exon11			TGGTGCCGTGGAA	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1693G>A	7.37:g.139726084C>T	ENSP00000263549:p.Gly565Ser	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	167	90	NM_022750	0	0	18	32	14	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.62|15.62	2.886533|2.886533	0.51908|0.51908	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000263549|ENST00000489809	T|T	0.73789|0.50813	-0.78|0.73	4.77|4.77	4.77|4.77	0.60923|0.60923	Poly(ADP-ribose) polymerase, catalytic domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80265|0.80265	0.4591|0.4591	H|H	0.97758|0.97758	4.07|4.07	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.87437|0.87437	0.2392|0.2392	10|7	0.87932|0.54805	D|T	0|0.06	.|.	17.7742|17.7742	0.88502|0.88502	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	565|.	Q9H0J9|.	PAR12_HUMAN|.	S|Q	565|159	ENSP00000263549:G565S|ENSP00000417606:R159Q	ENSP00000263549:G565S|ENSP00000417606:R159Q	G|R	-|-	1|2	0|0	PARP12|PARP12	139372553|139372553	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.450000|0.450000	0.32258|0.32258	7.792000|7.792000	0.85828|0.85828	2.204000|2.204000	0.70986|0.70986	0.461000|0.461000	0.40582|0.40582	GGC|CGG	.		0.562	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		T	139726084	C	T	139726084	3	4	49	1	0	0	0	0	1	0	0	0	11496	652	23	1	420	1	PARP12	7	139726084	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	6766188	139726084	19412579	113	10137											
MLL3	58508	broad.mit.edu;bcgsc.ca	37	chr7	151878058	151878058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactgatcatagggatcaCgggcagcagatggggaaaca	15	7	2	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:151878058C>T	ENST00000262189.6	-	36	7105	c.6887G>A	c.(6886-6888)cGt>cAt	p.R2296H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2296H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2296					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)										ATAGGGATCACGGGCAGCAGA	0.527																																					p.R2296H		.											.	MLL3-1398	0			c.G6887A						.						105	101	102					7																	151878058		2203	4300	6503	SO:0001583	missense	58508	exon36			GGATCACGGGCAG	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.6887G>A	7.37:g.151878058C>T	ENSP00000262189:p.Arg2296His	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	424	11	NM_170606	0	0	3	3	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	6.610	0.481022	0.12581	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82803	-1.65;-1.65	5.17	3.31	0.37934	.	0.292176	0.24285	N	0.039874	T	0.70351	0.3214	L	0.31294	0.92	0.54753	D	0.999988	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.63427	-0.6640	10	0.30854	T	0.27	.	7.6067	0.28105	0.0:0.6778:0.1332:0.1891	.	2296;1357	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	2296	ENSP00000262189:R2296H;ENSP00000347325:R2296H	ENSP00000262189:R2296H	R	-	2	0	MLL3	151508991	0.001000	0.12720	0.115000	0.21578	0.877000	0.50540	-0.067000	0.11579	1.300000	0.44818	0.655000	0.94253	CGT	.		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151878058	C	T	151878058	3	4	49	1	0	0	0	0	1	0	0	0	9660	536	19	1	7944	1	MLL3	7	151878058	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	12151974	151878058	7260605	114	10138											
MLL3	58508	broad.mit.edu	37	chr7	151879078	151879078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggtcattatttgtcgtgGaagaagaacataaatctctg	11	5	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:151879078G>A	ENST00000262189.6	-	36	6085	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S1956F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1956	Pro-rich.				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)										ATTTGTCGTGGAAGAAGAACA	0.458																																					p.S1956F		.											.	MLL3-1398	0			c.C5867T						.						157	166	163					7																	151879078		2203	4300	6503	SO:0001583	missense	58508	exon36			GTCGTGGAAGAAG	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.5867C>T	7.37:g.151879078G>A	ENSP00000262189:p.Ser1956Phe	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	241	6	NM_170606	0	0	3	3	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943012	0.53079	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.43688	0.94;0.94	5.41	5.41	0.78517	.	0.000000	0.44285	U	0.000467	T	0.52468	0.1736	L	0.29908	0.895	0.80722	D	1	P;D	0.71674	0.895;0.998	P;D	0.63381	0.548;0.914	T	0.52094	-0.8621	10	0.49607	T	0.09	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	1956;1017	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1956	ENSP00000262189:S1956F;ENSP00000347325:S1956F	ENSP00000262189:S1956F	S	-	2	0	MLL3	151510011	1.000000	0.71417	0.916000	0.36221	0.721000	0.41392	6.314000	0.72848	2.540000	0.85666	0.563000	0.77884	TCC	.		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151879078	G	A	151879078	3	1	49	1	0	0	0	0	1	0	0	0	9660	1174	41	3	8964	3	MLL3	7	151879078	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1020	151879078	7259585	115	10139											
WDR60	55112	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	158738347	158738347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggtgctggccagggcGtctggctccatcgacatcca	13	15	1	0	rs374045806		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr7:158738347G>A	ENST00000407559.3	+	25	3236	c.3078G>A	c.(3076-3078)gcG>gcA	p.A1026A		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1026					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)		TGGCCAGGGCGTCTGGCTCCA	0.672																																					p.A1026A		.											.	WDR60-92	0			c.G3078A						.			0,4054		0,0,2027	17	22	21		3078	0.6	0.5	7		21	2,8342		0,2,4170	no	coding-synonymous	WDR60	NM_018051.4		0,2,6197	AA,AG,GG		0.024,0.0,0.0161		1026/1067	158738347	2,12396	2027	4172	6199	SO:0001819	synonymous_variant	55112	exon25			CAGGGCGTCTGGC		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.3078G>A	7.37:g.158738347G>A		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	213	91	NM_018051	0	0	9	19	10	Q9NW58	Silent	SNP	ENST00000407559.3	37	CCDS47757.1																																																																																			.		0.672	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		A	158738347	G	A	158738347	2	1	49	1	0	0	0	0	0	0	0	1	17360	1132	40	1		1	WDR60	7	158738347	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	6859269	158738347	400316	116	10140											
MYOM2	9172	bcgsc.ca	37	chr8	2021421	2021421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttaacgctctttcagacGtgctgttgaaagagtccaag	11	8	2	3	rs2272720	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:2021421G>T	ENST00000262113.4	+	10	1102	c.961G>T	c.(961-963)Gtg>Ttg	p.V321L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	321	Ig-like C2-type 2.		V -> L (in dbSNP:rs2272720). {ECO:0000269|PubMed:7505783}.		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTTTCAGACGTGCTGTTGAA	0.562													G|||	1402	0.279952	0.0257	0.379	5008	,	,		19795	0.3601		0.4046	False		,,,				2504	0.3425				p.V321L		.											.	MYOM2-95	0			c.G961T						.	G	LEU/VAL	419,3987	205.2+/-227.1	16,387,1800	94	84	87		961	4.6	0.7	8	dbSNP_100	87	3691,4909	528.5+/-381.4	816,2059,1425	yes	missense	MYOM2	NM_003970.2	32	832,2446,3225	TT,TG,GG		42.9186,9.5098,31.6008	benign	321/1466	2021421	4110,8896	2203	4300	6503	SO:0001583	missense	9172	exon10			TCAGACGTGCTGT		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.961G>T	8.37:g.2021421G>T	ENSP00000262113:p.Val321Leu	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	154	5	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	676	0.30952380952380953	13	0.026422764227642278	148	0.4088397790055249	207	0.3618881118881119	308	0.40633245382585753	G	8.677	0.904279	0.17760	0.095098	0.429186	ENSG00000036448	ENST00000262113	T	0.66815	-0.23	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.323580	0.29342	N	0.012422	T	0.00012	0.0000	L	0.42686	1.345	0.09310	P	1.0	B	0.12013	0.005	B	0.17098	0.017	T	0.33828	-0.9853	9	0.20519	T	0.43	.	17.4931	0.87710	0.0:0.0:1.0:0.0	rs2272720;rs59193087;rs2272720	321	P54296	MYOM2_HUMAN	L	321	ENSP00000262113:V321L	ENSP00000262113:V321L	V	+	1	0	MYOM2	2008828	1.000000	0.71417	0.666000	0.29783	0.015000	0.08874	5.607000	0.67648	2.093000	0.63338	0.655000	0.94253	GTG	G|0.687;T|0.313		0.562	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2021421	G	T	2021421	3	4	49	1	0	0	0	0	1	0	0	0	10130	1145	40	2	995	2	MYOM2	8	2021421	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		2021421	144342601	117	10141											
DEFB135	613209	broad.mit.edu;bcgsc.ca	37	chr8	11839860	11839860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgtcctcttggccctcGtggtccttaacttactcttc	9	14	2	0	rs141141605		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:11839860G>A	ENST00000382208.2	+	1	31	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	11					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						CTTGGCCCTCGTGGTCCTTAA	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		22087	0		0	False		,,,				2504	0				p.V11M		.											.	DEFB135-68	0			c.G31A						.	G	MET/VAL	8,3922		0,8,1957	132	133	133		31	2.3	0.6	8	dbSNP_134	133	0,8300		0,0,4150	yes	missense	DEFB135	NM_001033017.2	21	0,8,6107	AA,AG,GG		0.0,0.2036,0.0654	possibly-damaging	11/78	11839860	8,12222	1965	4150	6115	SO:0001583	missense	613209	exon1			GCCCTCGTGGTCC	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.31G>A	8.37:g.11839860G>A	ENSP00000371643:p.Val11Met	Somatic	88	2		WXS	Illumina GAIIx	Phase_I	83	75	NM_001033017	0	0	0	0	0	Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	CCDS43710.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	2.440	-0.328793	0.05314	0.002036	0.0	ENSG00000205883	ENST00000382208	.	.	.	3.2	2.29	0.28610	.	.	.	.	.	T	0.52645	0.1747	.	.	.	0.09310	N	0.999992	D	0.76494	0.999	P	0.58331	0.837	T	0.36672	-0.9738	7	0.66056	D	0.02	-6.3339	8.2558	0.31756	0.0:0.2453:0.7547:0.0	.	11	Q30KP9	DB135_HUMAN	M	11	.	ENSP00000371643:V11M	V	+	1	0	DEFB135	11877269	0.238000	0.23825	0.556000	0.28293	0.024000	0.10985	1.006000	0.29847	0.873000	0.35799	0.655000	0.94253	GTG	G|0.999;A|0.001		0.483	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		A	11839860	G	A	11839860	3	1	49	1	0	0	0	0	1	0	0	0	4433	1145	40	1	33	1	DEFB135	8	11839860	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	9818439	11839860	134524162	118	10142											
HOOK3	84376	ucsc.edu	37	chr8	42819577	42819577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaaggcatttgcagCtccagactcaattagaacag	10	9	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:42819577C>A	ENST00000307602.4	+	9	939	c.739C>A	c.(739-741)Ctc>Atc	p.L247I		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	247					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCATTTGCAGCTCCAGACTCA	0.348			T	RET	papillary thyroid																																p.L247I		.		Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	HOOK3-154	0			c.C739A						.						88	86	87					8																	42819577		2203	4300	6503	SO:0001583	missense	84376	exon9			TTGCAGCTCCAGA	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.739C>A	8.37:g.42819577C>A	ENSP00000305699:p.Leu247Ile	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_032410	0	0	2	2	0	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064031	0.93898	.	.	ENSG00000168172	ENST00000307602	T	0.25085	1.82	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	M	0.73430	2.235	0.80722	D	1	P;P	0.48350	0.909;0.9	P;P	0.61477	0.889;0.447	T	0.44205	-0.9343	10	0.49607	T	0.09	-0.4757	20.1572	0.98116	0.0:1.0:0.0:0.0	.	247;247	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	I	247	ENSP00000305699:L247I	ENSP00000305699:L247I	L	+	1	0	HOOK3	42938734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.605000	0.61119	2.762000	0.94881	0.650000	0.86243	CTC	.		0.348	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		A	42819577	C	A	42819577	3	1	49	1	0	0	0	0	1	0	0	0	7311	797	28	3	773	3	HOOK3	8	42819577	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	30979717	42819577	103544445	119	10143											
MYBL1	4603	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	67511292	67511294	+	In_Frame_Del	DEL	TCT	TCT	-													atgaacacattaccctctgaTcttcttctttagtccaagga							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:67511292_67511294delTCT	ENST00000522677.3	-	4	692_694	c.282_284delAGA	c.(280-285)gaagat>gat	p.E94del	MYBL1_ENST00000524176.2_In_Frame_Del_p.E94del|MYBL1_ENST00000517885.1_In_Frame_Del_p.E94del	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	94	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCCTCTGATCTTCTTCTTTAG	0.33																																					p.94_95del		.											.	MYBL1-395	0			c.282_284del						.																																			SO:0001651	inframe_deletion	4603	exon4			CTCTGATCTTCTT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.282_284delAGA	8.37:g.67511298_67511300delTCT	ENSP00000429633:p.Glu94del	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	46	34	NM_001080416	0	0	0	0	0	E7EW29|Q495F9	In_Frame_Del	DEL	ENST00000522677.3	37	CCDS47867.1																																																																																			.		0.33	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		-	67511294	TCT	-	67511292	7	5	49	1	0	1	0	1	0	0	0	0	10047	1435	50	0	2026	0	MYBL1	8	67511292	In_Frame_Del	DEL	TCT	TCGA-OR-A5LB-01A-11D-A29I-10	24691715	67511292	78852730	120	10144											
PABPC1	26986	broad.mit.edu	37	chr8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttgcactagtgattGtaccaaatggagaaaactct	7	8	1	2	rs202060459		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																					p.T319I		.											.	PABPC1-68	2	Substitution - Missense(2)	kidney(1)|endometrium(1)	c.C956T						.						154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986	exon7			GTGATTGTACCAA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	116	3	NM_002568	1	0	351	352	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA	.		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	49	1	0	0	0	0	1	0	0	0	11402	1377	48	3	986	3	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	34213314	101724606	44639416	121	10145											
UBR5	51366	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	103297940	103297940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctgctgcagctgcaGcacttgtactgatggtacca	11	11	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr8:103297940G>T	ENST00000520539.1	-	39	5891	c.5285C>A	c.(5284-5286)gCt>gAt	p.A1762D	UBR5_ENST00000521922.1_Missense_Mutation_p.A1756D|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.A1762D	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1762	Poly-Ala.				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)			TGCAGCTGCAGCACTTGTACT	0.458																																					p.A1762D	Ovarian(131;96 1741 5634 7352 27489)	.											.	UBR5-761	0			c.C5285A						.						66	64	65					8																	103297940		2203	4300	6503	SO:0001583	missense	51366	exon39			GCTGCAGCACTTG	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.5285C>A	8.37:g.103297940G>T	ENSP00000429084:p.Ala1762Asp	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	137	123	NM_015902	0	0	0	1	1	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208728	0.95069	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.51325	0.71;0.71;0.71	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.65516	-0.6149	10	0.72032	D	0.01	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1756;1762	E7EMW7;O95071	.;UBR5_HUMAN	D	1762;1762;1756	ENSP00000429084:A1762D;ENSP00000220959:A1762D;ENSP00000427819:A1756D	ENSP00000220959:A1762D	A	-	2	0	UBR5	103367116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.582000	0.98214	2.687000	0.91594	0.563000	0.77884	GCT	.		0.458	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103297940	G	T	103297940	3	4	49	1	0	0	0	0	1	0	0	0	16954	971	34	3	3198	3	UBR5	8	103297940	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1573334	103297940	43066082	122	10146											
TYRP1	7306	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	12704553	12704553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccacgggaaagtatgAccctgctgttcgaagtcttc	10	12	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:12704553A>G	ENST00000388918.5	+	6	1238	c.1109A>G	c.(1108-1110)gAc>gGc	p.D370G	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.D79G|TYRP1_ENST00000381136.2_Missense_Mutation_p.D80G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	370					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)		GGAAAGTATGACCCTGCTGTT	0.413									Oculocutaneous Albinism																												p.D370G		.											.	TYRP1-226	0			c.A1109G						.						88	73	78					9																	12704553		2203	4300	6503	SO:0001583	missense	7306	exon6	Familial Cancer Database		AGTATGACCCTGC	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.1109A>G	9.37:g.12704553A>G	ENSP00000373570:p.Asp370Gly	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	46	45	NM_000550	0	0	0	0	0	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665950	0.88251	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98512	-4.97;-4.97;-4.97	5.53	5.53	0.82687	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.043209	0.85682	D	0.000000	D	0.98947	0.9642	M	0.88241	2.94	0.80722	D	1	D	0.55800	0.973	P	0.62649	0.905	D	0.99572	1.0971	10	0.72032	D	0.01	-30.5265	15.6677	0.77242	1.0:0.0:0.0:0.0	.	370	P17643	TYRP1_HUMAN	G	79;370;80	ENSP00000370529:D79G;ENSP00000373570:D370G;ENSP00000370528:D80G	ENSP00000370528:D80G	D	+	2	0	TYRP1	12694553	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.870000	0.92336	2.092000	0.63282	0.482000	0.46254	GAC	.		0.413	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		G	12704553	A	G	12704553	3	3	49	1	0	0	0	0	1	0	0	0	16865	275	10	4	1127	4	TYRP1	9	12704553	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10		12704553	128508878	123	10147											
NUDT2	318	hgsc.bcm.edu	37	chr9	34339072	34339072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtggcttgatcatcttccGaagatgcctcattcccaaag	8	11	3	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:34339072G>T	ENST00000379158.2	+	4	393	c.35G>T	c.(34-36)cGa>cTa	p.R12L	NUDT2_ENST00000379155.5_Missense_Mutation_p.R12L|NUDT2_ENST00000346365.4_Missense_Mutation_p.R12L	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	12	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATCATCTTCCGAAGATGCCTC	0.438																																					p.R12L	Melanoma(95;1683 1957 4276 39813)	.											.	NUDT2-90	0			c.G35T						.						160	142	148					9																	34339072		2203	4300	6503	SO:0001583	missense	318	exon3			TCTTCCGAAGATG	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"Nudix motif containing"	8049	protein-coding gene	gene with protein product	"Ap4A hydrolase 1", "Ap4Aase", "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)", "diadenosine tetraphosphatase", "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.35G>T	9.37:g.34339072G>T	ENSP00000368455:p.Arg12Leu	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	100	6	NM_147173	0	0	37	37	0	D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023048	0.93462	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	.	.	.	5.7	4.8	0.61643	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89593	0.3829	9	0.87932	D	0	-6.3625	15.0811	0.72117	0.0692:0.0:0.9308:0.0	.	12	P50583	AP4A_HUMAN	L	12	.	ENSP00000338397:R12L	R	+	2	0	NUDT2	34329072	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.583000	0.82559	2.692000	0.91855	0.655000	0.94253	CGA	.		0.438	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		T	34339072	G	T	34339072	3	4	49	1	0	0	0	0	1	0	0	0	10776	1058	37	2	37	2	NUDT2	9	34339072	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	21634519	34339072	106874359	124	10148											
CCIN	881	hgsc.bcm.edu;broad.mit.edu	37	chr9	36170452	36170452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatgccctatcgggcagCagcacttagtgccacctctg	10	14	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:36170452C>A	ENST00000335119.2	+	1	1064	c.953C>A	c.(952-954)gCa>gAa	p.A318E		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	318					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TATCGGGCAGCAGCACTTAGT	0.542																																					p.A318E		.											.	CCIN-92	0			c.C953A						.						78	74	75					9																	36170452		2203	4300	6503	SO:0001583	missense	881	exon1			GGGCAGCAGCACT	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.953C>A	9.37:g.36170452C>A	ENSP00000334996:p.Ala318Glu	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	74	4	NM_005893	0	0	0	0	0	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858763	0.51376	.	.	ENSG00000185972	ENST00000335119	T	0.67345	-0.26	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.56097	D	0.000024	T	0.74535	0.3729	L	0.44542	1.39	0.40702	D	0.982499	D	0.69078	0.997	D	0.81914	0.995	T	0.68183	-0.5476	10	0.18276	T	0.48	.	15.9243	0.79603	0.0:1.0:0.0:0.0	.	318	Q13939	CALI_HUMAN	E	318	ENSP00000334996:A318E	ENSP00000334996:A318E	A	+	2	0	CCIN	36160452	0.964000	0.33143	0.915000	0.36163	0.979000	0.70002	4.483000	0.60264	2.839000	0.97877	0.655000	0.94253	GCA	.		0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		A	36170452	C	A	36170452	3	1	49	1	0	0	0	0	1	0	0	0	2885	710	25	3	955	3	CCIN	9	36170452	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1831380	36170452	105042979	125	10149											
C9orf41	138199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	77613553	77613553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaatctcctgctgtcaTagaaaagttagaaccaggag	9	7	2	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:77613553T>C	ENST00000376834.3	-	5	1023	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	291										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CCTGCTGTCATAGAAAAGTTA	0.388																																					p.M291V		.											.	C9orf41-92	0			c.A871G						.						62	66	65					9																	77613553		2203	4300	6503	SO:0001583	missense	138199	exon5			CTGTCATAGAAAA	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.871A>G	9.37:g.77613553T>C	ENSP00000366030:p.Met291Val	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	240	108	NM_152420	0	0	5	7	2	Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554477	0.86231	.	.	ENSG00000156017	ENST00000376834;ENST00000451153	T	0.03242	4.0	5.98	5.98	0.97165	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.90252	3.1	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.02098	-1.1214	10	0.56958	D	0.05	-17.265	16.4696	0.84102	0.0:0.0:0.0:1.0	.	291	Q8N4J0	CI041_HUMAN	V	291;230	ENSP00000366030:M291V	ENSP00000366030:M291V	M	-	1	0	C9orf41	76803373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.289000	0.77006	0.482000	0.46254	ATG	.		0.388	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		C	77613553	T	C	77613553	3	2	49	1	0	0	0	0	1	0	0	0	2489	1406	49	4	374	4	C9orf41	9	77613553	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	41443101	77613553	63599878	126	10150											
SECISBP2	79048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	91949587	91949587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtataccatcttctgaagCtttatcttcggatccttcct	5	11	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:91949587C>T	ENST00000375807.3	+	7	1102	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A271V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A276V	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	344					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						TCTTCTGAAGCTTTATCTTCG	0.388																																					p.A344V		.											.	SECISBP2-93	0			c.C1031T						.						115	111	113					9																	91949587		2202	4300	6502	SO:0001583	missense	79048	exon7			CTGAAGCTTTATC	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.1031C>T	9.37:g.91949587C>T	ENSP00000364965:p.Ala344Val	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	117	43	NM_024077	0	0	13	37	24	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.974|1.974	-0.435903|-0.435903	0.04636|0.04636	.|.	.|.	ENSG00000187742|ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851|ENST00000440898	T;T;T;T|.	0.71222|.	-0.54;-0.55;-0.53;1.0|.	5.53|5.53	0.574|0.574	0.17368|0.17368	.|.	1.108830|.	0.06693|.	N|.	0.770051|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.02539|0.02539	-0.55|-0.55	0.25122|0.25122	N|N	0.990638|0.990638	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;0.0;0.001|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|6	0.07813|0.87932	T|D	0.8|0	-3.1974|-3.1974	7.4209|7.4209	0.27071|0.27071	0.0:0.3638:0.0:0.6362|0.0:0.3638:0.0:0.6362	.|.	351;343;271;344;276|.	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892|.	.;.;.;SEBP2_HUMAN;.|.	V|F	344;350;271;276;141|24	ENSP00000364965:A344V;ENSP00000364959:A271V;ENSP00000436650:A276V;ENSP00000414288:A141V|.	ENSP00000364959:A271V|ENSP00000411573:L24F	A|L	+|+	2|1	0|0	SECISBP2|SECISBP2	91139407|91139407	0.917000|0.917000	0.31117|0.31117	0.970000|0.970000	0.41538|0.41538	0.938000|0.938000	0.57974|0.57974	0.458000|0.458000	0.21892|0.21892	-0.027000|-0.027000	0.13873|0.13873	-0.982000|-0.982000	0.02568|0.02568	GCT|CTT	.		0.388	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		T	91949587	C	T	91949587	3	4	49	1	0	0	0	0	1	0	0	0	14051	797	28	3	1057	3	SECISBP2	9	91949587	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	14336034	91949587	49263844	127	10151											
CDK5RAP2	55755	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	123290085	123290085	+	Splice_Site	DEL	T	T	-													tcaagtgtatcagacataccTttttttcctttgattttaat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:123290085delT	ENST00000349780.4	-	10	1177	c.998delA	c.(997-999)aag>ag	p.K333fs	CDK5RAP2_ENST00000360190.4_Splice_Site_p.K333fs|CDK5RAP2_ENST00000360822.3_Splice_Site_p.K333fs|CDK5RAP2_ENST00000359309.3_Splice_Site_p.K333fs	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	333					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGACATACCTTTTTTTCCTT	0.333																																					p.K333fs		.											.	CDK5RAP2-229	0			c.998delA						.						133	123	126					9																	123290085		2202	4300	6502	SO:0001630	splice_region_variant	55755	exon10			CATACCTTTTTTT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.999+1A>-	9.37:g.123290085delT		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	53	26	NM_018249	0	0	0	0	0	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Frame_Shift_Del	DEL	ENST00000349780.4	37	CCDS6823.1																																																																																			.		0.333	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Frame_Shift_Del	-	123290085	T	-	123290085	8	5	49	1	0	1	0	1	0	0	1	0	3153	1623	56	0	4799	0	CDK5RAP2	9	123290085	Splice_Site	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	31340498	123290085	17923346	128	10152											
NR5A1	2516	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	127253373	127253375	+	In_Frame_Del	DEL	GAT	GAT	-													cactcacccaggctgaagagGatgatgaacttgaggcagac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	GAT	GAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:127253373_127253375delGAT	ENST00000373588.4	-	6	1319_1321	c.1123_1125delATC	c.(1123-1125)atcdel	p.I375del		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	375	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GGCTGAAGAGGATGATGAACTTG	0.64																																					p.375_375del		.											.	NR5A1-186	0			c.1123_1125del						.																																			SO:0001651	inframe_deletion	2516	exon6			GAAGAGGATGATG	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.1123_1125delATC	9.37:g.127253376_127253378delGAT	ENSP00000362690:p.Ile375del	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	240	106	NM_004959	0	0	0	0	0	O15196|Q5T6F5	In_Frame_Del	DEL	ENST00000373588.4	37	CCDS6856.1																																																																																			.		0.64	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		-	127253375	GAT	-	127253373	7	5	49	1	0	1	0	1	0	0	0	0	10674	1164	41	0	268	0	NR5A1	9	127253373	In_Frame_Del	DEL	GAT	TCGA-OR-A5LB-01A-11D-A29I-10	3963288	127253373	13960058	129	10153											
GOLGA1	2800	ucsc.edu;bcgsc.ca	37	chr9	127674275	127674275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcaaatgtgtgataaCgtcttctttctcttgagttt	7	8	4	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:127674275C>T	ENST00000373555.4	-	11	1207	c.874G>A	c.(874-876)Gtt>Att	p.V292I		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	292					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.V292I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTGTGATAACGTCTTCTTTC	0.443																																					p.V292I		.											.	GOLGA1-91	1	Substitution - Missense(1)	large_intestine(1)	c.G874A						.						205	184	191					9																	127674275		2203	4300	6503	SO:0001583	missense	2800	exon11			TGATAACGTCTTC	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.874G>A	9.37:g.127674275C>T	ENSP00000362656:p.Val292Ile	Somatic	106	2		WXS	Illumina GAIIx	Phase_I	214	117	NM_002077	0	0	7	11	4	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.706135	0.00719	.	.	ENSG00000136935	ENST00000373555	T	0.76839	-1.05	5.84	-0.601	0.11638	.	0.187899	0.25503	U	0.030222	T	0.56543	0.1992	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.0	T	0.35400	-0.9790	10	0.33940	T	0.23	1.5149	5.6101	0.17400	0.1359:0.4923:0.2678:0.104	.	191;292	Q59HA1;Q92805	.;GOGA1_HUMAN	I	292	ENSP00000362656:V292I	ENSP00000362656:V292I	V	-	1	0	GOLGA1	126714096	0.968000	0.33430	0.000000	0.03702	0.005000	0.04900	-0.118000	0.10692	-0.688000	0.05155	-0.829000	0.03081	GTT	.		0.443	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		T	127674275	C	T	127674275	3	4	49	1	0	0	0	0	1	0	0	0	6577	536	19	1	1481	1	GOLGA1	9	127674275	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	420902	127674275	13539156	130	10154											
GAPVD1	26130	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	128069806	128069806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtggtttatataaccTacagtcagcttattactctg	7	8	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:128069806T>C	ENST00000495955.1	+	7	1521	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	GAPVD1_ENST00000297933.6_Missense_Mutation_p.Y411H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Y411H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.Y411H|GAPVD1_ENST00000394084.1_Missense_Mutation_p.Y411H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.Y411H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.Y411H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Y411H|GAPVD1_ENST00000470056.1_Missense_Mutation_p.Y411H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	411					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						TTATATAACCTACAGTCAGCT	0.418																																					p.Y411H		.											.	GAPVD1-93	0			c.T1231C						.						55	54	55					9																	128069806		2203	4300	6503	SO:0001583	missense	26130	exon5			ATAACCTACAGTC		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.1231T>C	9.37:g.128069806T>C	ENSP00000419063:p.Tyr411His	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	82	6	NM_015635	0	0	4	4	0	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.17|10.17	1.276655|1.276655	0.23307|0.23307	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|D;D;D;D;D;D;D;D;D;D	.|0.82255	.|-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.32|5.32	4.15|4.15	0.48705|0.48705	.|Rho GTPase activation protein (1);	.|0.107759	.|0.64402	.|N	.|0.000004	T|T	0.65709|0.65709	0.2717|0.2717	N|N	0.08118|0.08118	0|0	0.43874|0.43874	D|D	0.996488|0.996488	.|B;B;B;B;B;B;B	.|0.17268	.|0.004;0.003;0.004;0.004;0.001;0.021;0.001	.|B;B;B;B;B;B;B	.|0.13407	.|0.006;0.003;0.004;0.004;0.003;0.009;0.001	T|T	0.57359|0.57359	-0.7825|-0.7825	5|10	.|0.26408	.|T	.|0.33	.|.	10.7942|10.7942	0.46451|0.46451	0.0:0.0758:0.0:0.9242|0.0:0.0758:0.0:0.9242	.|.	.|411;411;411;411;411;411;411	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	.|.;GAPD1_HUMAN;.;.;.;.;.	P|H	241|411	.|ENSP00000377646:Y411H;ENSP00000419767:Y411H;ENSP00000377665:Y411H;ENSP00000377664:Y411H;ENSP00000265956:Y411H;ENSP00000377645:Y411H;ENSP00000419063:Y411H;ENSP00000418747:Y411H;ENSP00000297933:Y411H;ENSP00000309582:Y411H	.|ENSP00000265956:Y411H	L|Y	+|+	2|1	0|0	GAPVD1|GAPVD1	127109627|127109627	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.868000|2.868000	0.48436|0.48436	0.927000|0.927000	0.37143|0.37143	0.460000|0.460000	0.39030|0.39030	CTA|TAC	.		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			C	128069806	T	C	128069806	3	2	49	1	0	0	0	0	1	0	0	0	6264	1522	53	4	1245	4	GAPVD1	9	128069806	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	395531	128069806	13143625	131	10155											
GOLGA2	2801	hgsc.bcm.edu;broad.mit.edu	37	chr9	131022875	131022875	+	Frame_Shift_Del	DEL	C	C	-													cctgcgcgcctccgcctgctCcccccagagctcggccgccc					rs369777097		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:131022875delC	ENST00000421699.2	-	17	1558	c.1546delG	c.(1546-1548)gagfs	p.E516fs	GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.E504fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	516					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCGCCTGCTCCCCCCAGAGC	0.657																																					p.E516fs		.											.	GOLGA2-91	0			c.1546delG						.						74	86	82					9																	131022875		2203	4299	6502	SO:0001589	frameshift_variant	2801	exon17			CCTGCTCCCCCCA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1546delG	9.37:g.131022875delC	ENSP00000416097:p.Glu516fs	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	127	19	NM_004486	0	0	0	0	0	Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL	ENST00000421699.2	37	CCDS6896.2																																																																																			.		0.657	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		-	131022875	C	-	131022875	7	5	49	1	0	1	0	1	0	0	0	0	6578	864	30	0	1502	0	GOLGA2	9	131022875	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	2953069	131022875	10190556	132	10156											
C9orf96	169436	hgsc.bcm.edu;bcgsc.ca	37	chr9	136262309	136262311	+	In_Frame_Del	DEL	CTT	CTT	-													agggacgtggtgcacatcacCttcttgagaggctccttcaa							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:136262309_136262311delCTT	ENST00000371957.3	+	10	992_994	c.885_887delCTT	c.(883-888)accttc>acc	p.F296del	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						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)		TGCACATCACCTTCTTGAGAGGC	0.631																																					p.295_296del		.											.	C9orf96-334	0			c.885_887del						.																																			SO:0001651	inframe_deletion	169436	exon10			CATCACCTTCTTG																												ENST00000371957.3:c.885_887delCTT	9.37:g.136262312_136262314delCTT	ENSP00000361025:p.Phe296del	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	252	103	NM_153710	0	0	0	0	0	Q5T8U8|Q6ZMP6|Q6ZMQ5	In_Frame_Del	DEL	ENST00000371957.3	37	CCDS35169.1																																																																																			.		0.631	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			-	136262311	CTT	-	136262309	7	5	49	1	0	1	0	1	0	0	0	0	2515	668	24	0	923	0	C9orf96	9	136262309	In_Frame_Del	DEL	CTT	TCGA-OR-A5LB-01A-11D-A29I-10	5239434	136262309	4951122	133	10157											
ADAMTS13	11093	broad.mit.edu;bcgsc.ca	37	chr9	136303424	136303424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggacaggtgccaggtgtGtggtggggacaacagcacgt	18	7	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:136303424G>A	ENST00000371929.3	+	14	2087	c.1643G>A	c.(1642-1644)tGt>tAt	p.C548Y	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.C517Y|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.C548Y|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.C220Y|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	548	Cysteine-rich.				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)		TGCCAGGTGTGTGGTGGGGAC	0.627																																					p.C548Y		.											.	ADAMTS13-229	0			c.G1643A						.						140	117	124					9																	136303424		2203	4300	6503	SO:0001583	missense	11093	exon14			AGGTGTGTGGTGG	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.1643G>A	9.37:g.136303424G>A	ENSP00000360997:p.Cys548Tyr	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	314	12	NM_139027	0	0	3	3	0	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366454	0.61513	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.8	4.8	0.61643	.	.	.	.	.	D	0.89125	0.6626	H	0.96175	3.78	0.52099	D	0.999947	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92827	0.6277	9	0.87932	D	0	.	16.4597	0.84032	0.0:0.0:1.0:0.0	.	548;517;548	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Y	548;548;517;220	ENSP00000360997:C548Y;ENSP00000347927:C548Y;ENSP00000348997:C517Y;ENSP00000444504:C220Y	ENSP00000347927:C548Y	C	+	2	0	ADAMTS13	135293245	1.000000	0.71417	0.957000	0.39632	0.446000	0.32137	8.094000	0.89533	2.181000	0.69327	0.561000	0.74099	TGT	.		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		A	136303424	G	A	136303424	3	1	49	1	0	0	0	0	1	0	0	0	258	1377	48	3	1697	3	ADAMTS13	9	136303424	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	41115	136303424	4910007	134	10158											
BRD3	8019	broad.mit.edu;bcgsc.ca	37	chr9	136918407	136918407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaggttcaatttgattgCgtccacgggctggtagaagg	15	8	1	2	rs200965087		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:136918407C>T	ENST00000303407.7	-	2	378	c.193G>A	c.(193-195)Gca>Aca	p.A65T	BRD3_ENST00000357885.2_Missense_Mutation_p.A65T|RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.A65T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	65	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AATTTGATTGCGTCCACGGGC	0.617			T	C15orf55	lethal midline carcinoma of young people								C|||	1	0.000199681	0	0.0014	5008	,	,		15150	0		0	False		,,,				2504	0				p.A65T		.		Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	BRD3-377	0			c.G193A						.						71	70	70					9																	136918407		2203	4300	6503	SO:0001583	missense	8019	exon2			TGATTGCGTCCAC		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.193G>A	9.37:g.136918407C>T	ENSP00000305918:p.Ala65Thr	Somatic	65	3		WXS	Illumina GAIIx	Phase_I	125	59	NM_007371	0	0	2	8	6	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	CCDS6980.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.50	3.840034	0.71488	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.28	5.28	0.74379	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.30978	0.0782	L	0.55103	1.725	0.80722	D	1	P;D	0.58268	0.768;0.982	B;P	0.51701	0.293;0.677	T	0.01648	-1.1304	10	0.51188	T	0.08	-24.3143	12.9258	0.58260	0.1622:0.8378:0.0:0.0	.	65;65	Q15059-2;Q15059	.;BRD3_HUMAN	T	65	ENSP00000305918:A65T;ENSP00000360900:A65T;ENSP00000350557:A65T;ENSP00000360908:A65T	ENSP00000305918:A65T	A	-	1	0	BRD3	135908228	1.000000	0.71417	0.958000	0.39756	0.042000	0.13812	5.706000	0.68362	2.452000	0.82932	0.563000	0.77884	GCA	C|0.999;T|0.000		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		T	136918407	C	T	136918407	3	4	49	1	0	0	0	0	1	0	0	0	1507	768	27	1	2031	1	BRD3	9	136918407	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	614983	136918407	4295024	135	10159											
FCN2	2220	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	137777089	137777089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcccttcccaggcccGcgtacctgcaaggacctgct	11	17	0	0	rs369807019		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:137777089G>A	ENST00000291744.6	+	5	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_ENST00000350339.2_Silent_p.P64P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	102	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662													G|||	1	0.000199681	0	0	5008	,	,		16065	0		0	False		,,,				2504	0.001				p.P102P		.											.	FCN2-153	0			c.G306A						.						56	54	55					9																	137777089		2203	4300	6503	SO:0001819	synonymous_variant	2220	exon5			AGGCCCGCGTACC	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.306G>A	9.37:g.137777089G>A		Somatic	94	1		WXS	Illumina GAIIx	Phase_I	181	98	NM_004108	0	0	0	0	0	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	CCDS6983.1																																																																																			.		0.662	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		A	137777089	G	A	137777089	2	1	49	1	0	0	0	0	0	0	0	1	5814	1074	38	1		1	FCN2	9	137777089	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	858682	137777089	3436342	136	10160											
KIAA0649	9858	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	138377451	138377451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccgactccagcagcgaCgatggcattgaggaggccat	14	12	0	1	rs138779417		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:138377451C>T	ENST00000356818.2	+	4	1644	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	PPP1R26_ENST00000605660.1_Silent_p.D365D|PPP1R26_ENST00000401470.3_Silent_p.D365D|PPP1R26_ENST00000605286.1_Silent_p.D365D|PPP1R26_ENST00000604351.1_Silent_p.D365D|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	365					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCAGCAGCGACGATGGCATTG	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18814	0		0	False		,,,				2504	0				p.D365D		.											.	.	0			c.C1095T						.	C		1,4405	4.2+/-10.8	0,1,2202	49	56	53		1095	-4.7	0.2	9	dbSNP_134	53	0,8600		0,0,4300	yes	coding-synonymous	KIAA0649	NM_014811.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		365/1210	138377451	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9858	exon4			CAGCGACGATGGC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1095C>T	9.37:g.138377451C>T		Somatic	171	1		WXS	Illumina GAIIx	Phase_I	331	159	NM_014811	0	0	8	10	2	Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	CCDS6988.1																																																																																			C|1.000;T|0.000		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		T	138377451	C	T	138377451	2	4	49	1	0	0	0	0	0	0	0	1	8214	535	19	1		1	KIAA0649	9	138377451	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	600362	138377451	2835980	137	10161											
KCNT1	57582	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	138662903	138662903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggctgcacgagggtcCggcccgcctgcccgtgcaca	16	16	0	0	rs566157365		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:138662903C>T	ENST00000263604.3	+	18	1913	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	KCNT1_ENST00000491806.2_Missense_Mutation_p.P624L|KCNT1_ENST00000487664.1_Missense_Mutation_p.P612L|KCNT1_ENST00000298480.5_Missense_Mutation_p.P657L|KCNT1_ENST00000371757.2_Missense_Mutation_p.P657L|KCNT1_ENST00000486577.2_Missense_Mutation_p.P618L|KCNT1_ENST00000490355.2_Missense_Mutation_p.P638L|KCNT1_ENST00000488444.2_Missense_Mutation_p.P638L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	638					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACGAGGGTCCGGCCCGCCTG	0.662													C|||	1	0.000199681	0	0	5008	,	,		14231	0.001		0	False		,,,				2504	0				p.P657L		.											.	KCNT1-137	0			c.C1970T						.						35	32	33					9																	138662903		2202	4300	6502	SO:0001583	missense	57582	exon18			AGGGTCCGGCCCG	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1913C>T	9.37:g.138662903C>T	ENSP00000263604:p.Pro638Leu	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	258	139	NM_020822	0	0	0	1	1	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	C	8.646	0.897161	0.17686	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.21361	2.02;2.02;2.02;2.01	3.39	3.39	0.38822	.	0.070966	0.56097	U	0.000024	T	0.16642	0.0400	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.16166	0.016;0.002;0.011;0.016	B;B;B;B	0.12156	0.007;0.002;0.005;0.003	T	0.05699	-1.0869	10	0.24483	T	0.36	-18.7713	14.9668	0.71201	0.0:1.0:0.0:0.0	.	624;657;612;638	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	L	612;657;657;618;624;638;638;638	ENSP00000417851:P612L;ENSP00000298480:P657L;ENSP00000360822:P657L;ENSP00000263604:P638L	ENSP00000263604:P638L	P	+	2	0	KCNT1	137802724	0.976000	0.34144	0.007000	0.13788	0.146000	0.21551	4.164000	0.58190	1.723000	0.51488	0.467000	0.42956	CCG	.		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138662903	C	T	138662903	3	4	49	1	0	0	0	0	1	0	0	0	8118	652	23	1	2040	1	KCNT1	9	138662903	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	285452	138662903	2550528	138	10162											
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	138669186	138669186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcatctgcccccagggCtgcaagcacaacagctatga	9	15	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:138669186C>T	ENST00000263604.3	+	21	2295	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	KCNT1_ENST00000491806.2_Silent_p.G751G|KCNT1_ENST00000487664.1_Silent_p.G739G|KCNT1_ENST00000298480.5_Silent_p.G784G|KCNT1_ENST00000371757.2_Silent_p.G784G|KCNT1_ENST00000486577.2_Silent_p.G743G|KCNT1_ENST00000490355.2_Silent_p.G763G|KCNT1_ENST00000488444.2_Silent_p.G765G			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	765					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCCCAGGGCTGCAAGCACA	0.602																																					p.G784G		.											.	KCNT1-137	0			c.C2352T						.						81	77	78					9																	138669186		2203	4300	6503	SO:0001819	synonymous_variant	57582	exon21			CCAGGGCTGCAAG	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2295C>T	9.37:g.138669186C>T		Somatic	230	0		WXS	Illumina GAIIx	Phase_I	464	42	NM_020822	0	0	0	0	0	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																				.		0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		T	138669186	C	T	138669186	2	4	49	1	0	0	0	0	0	0	0	1	8118	784	28	3		3	KCNT1	9	138669186	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	6283	138669186	2544245	139	10163											
GRIN1	2902	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	140055846	140055846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcacctggtggcagatgGcaagttcggcacacaggagc	16	10	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:140055846G>A	ENST00000371561.3	+	10	2542	c.1445G>A	c.(1444-1446)gGc>gAc	p.G482D	GRIN1_ENST00000371550.4_Missense_Mutation_p.G482D|GRIN1_ENST00000371546.4_Missense_Mutation_p.G503D|GRIN1_ENST00000371553.3_Missense_Mutation_p.G503D|GRIN1_ENST00000315048.3_Missense_Mutation_p.G482D|GRIN1_ENST00000371560.3_Missense_Mutation_p.G503D|GRIN1_ENST00000371555.4_Missense_Mutation_p.G503D|GRIN1_ENST00000350902.5_Missense_Mutation_p.G482D|GRIN1_ENST00000371559.4_Missense_Mutation_p.G482D|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	482					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)	GTGGCAGATGGCAAGTTCGGC	0.642																																					p.G503D	NSCLC(113;717 1653 2089 20474 37618)	.											.	GRIN1-187	0			c.G1508A						.						58	46	50					9																	140055846		2201	4297	6498	SO:0001583	missense	2902	exon11			CAGATGGCAAGTT		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.1445G>A	9.37:g.140055846G>A	ENSP00000360616:p.Gly482Asp	Somatic	269	1		WXS	Illumina GAIIx	Phase_I	674	100	NM_001185091	0	0	0	0	0	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	-	24.2	4.505500	0.85282	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.13	4.13	0.48395	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;P;D;D;D	0.74348	0.931;0.983;0.886;0.928;0.957;0.967	T	0.80367	-0.1412	10	0.87932	D	0	.	14.976	0.71273	0.0:0.0:1.0:0.0	.	503;503;482;482;482;482	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	D	482;482;482;482;503;503;503;482;503	ENSP00000360616:G482D;ENSP00000316696:G482D;ENSP00000316915:G482D;ENSP00000360605:G482D;ENSP00000360601:G503D;ENSP00000360610:G503D;ENSP00000360608:G503D;ENSP00000360614:G482D;ENSP00000360615:G503D	ENSP00000316696:G482D	G	+	2	0	GRIN1	139175667	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	8.937000	0.92936	1.849000	0.53698	0.298000	0.19748	GGC	.		0.642	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		A	140055846	G	A	140055846	3	1	49	1	0	0	0	0	1	0	0	0	6805	1203	42	3	1550	3	GRIN1	9	140055846	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1386660	140055846	1157585	140	10164											
TMEM203	94107	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	140099815	140099815	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcaggtgcacgaagatctCgaaggtggcgaagcctagcc	14	11	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:140099815C>A	ENST00000343666.5	-	1	275	c.52G>T	c.(52-54)Gag>Tag	p.E18*	NDOR1_ENST00000344894.5_5'Flank|TMEM203_ENST00000537254.1_Nonsense_Mutation_p.E18*|NDOR1_ENST00000458322.2_5'Flank|TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	18						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACGAAGATCTCGAAGGTGGCG	0.687																																					p.E18X		.											.	TMEM203-22	0			c.G52T						.						33	33	33					9																	140099815		2184	4281	6465	SO:0001587	stop_gained	94107	exon1			AGATCTCGAAGGT	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.52G>T	9.37:g.140099815C>A	ENSP00000375053:p.Glu18*	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	604	184	NM_053045	0	0	63	85	22	Q6NW08	Nonsense_Mutation	SNP	ENST00000343666.5	37	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984457	0.97173	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	.	.	.	4.13	3.23	0.37069	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9449	0.35753	0.0:0.8937:0.0:0.1063	.	.	.	.	X	18	.	ENSP00000375053:E18X	E	-	1	0	TMEM203	139219636	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.319000	0.79040	0.943000	0.37553	0.655000	0.94253	GAG	.		0.687	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		A	140099815	C	A	140099815	4	1	49	1	0	0	0	0	0	1	0	0	16175	893	31	2	362	2	TMEM203	9	140099815	Nonsense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	43969	140099815	1113616	141	10165											
CACNA1B	774	broad.mit.edu;bcgsc.ca	37	chr9	141015261	141015261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgggggccgtgagcccccGaagcccaagccctccctcag	12	17	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr9:141015261G>A	ENST00000371372.1	+	46	6562	c.6417G>A	c.(6415-6417)ccG>ccA	p.P2139P	CACNA1B_ENST00000277551.2_Silent_p.P2139P|CACNA1B_ENST00000371355.4_Silent_p.P2140P|CACNA1B_ENST00000277549.5_Silent_p.P1333P|CACNA1B_ENST00000371357.1_Silent_p.P2138P|CACNA1B_ENST00000371363.1_Silent_p.P2137P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2139					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAGCCCCCGAAGCCCAAGC	0.682																																					p.P2139P		.											.	CACNA1B-138	0			c.G6417A						.						10	16	14					9																	141015261		1915	4062	5977	SO:0001819	synonymous_variant	774	exon45			GCCCCCGAAGCCC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6417G>A	9.37:g.141015261G>A		Somatic	70	2		WXS	Illumina GAIIx	Phase_I	219	84	NM_001243812	0	0	1	2	1	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																			.		0.682	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	141015261	G	A	141015261	2	1	49	1	0	0	0	0	0	0	0	1	2546	1045	37	1		1	CACNA1B	9	141015261	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	915446	141015261	198170	142	10166											
IDI1	3422	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	1088637	1088637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgcctcactccaagggCgtcactttcctcaagctcgg	9	16	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:1088637C>A	ENST00000381344.3	-	4	638	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	101	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		ACTCCAAGGGCGTCACTTTCC	0.468																																					p.A158S		.											.	IDI1-90	0			c.G472T						.						109	96	101					10																	1088637		2203	4300	6503	SO:0001583	missense	3422	exon4			CAAGGGCGTCACT	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.472G>T	10.37:g.1088637C>A	ENSP00000370748:p.Ala158Ser	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	196	32	NM_004508	0	1	366	443	76	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	ENST00000381344.3	37	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.331927	0.41297	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	L	0.52364	1.645	0.80722	D	1	P	0.34815	0.47	P	0.47470	0.548	T	0.70887	-0.4750	9	0.49607	T	0.09	-3.4306	17.5646	0.87916	0.0:1.0:0.0:0.0	.	158	Q13907-2	.	S	158;72;101	.	ENSP00000370748:A158S	A	-	1	0	IDI1	1078637	1.000000	0.71417	0.304000	0.25085	0.023000	0.10783	7.131000	0.77243	2.172000	0.68678	0.563000	0.77884	GCC	.		0.468	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		A	1088637	C	A	1088637	3	1	49	1	0	0	0	0	1	0	0	0	7526	768	27	2	390	2	IDI1	10	1088637	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		1088637	134446110	143	10167											
FBXO18	84893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	5948345	5948345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggcaagaagcagaggAcagtacgtctcggctctctg	14	11	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:5948345A>G	ENST00000362091.4	+	3	618	c.503A>G	c.(502-504)gAc>gGc	p.D168G	FBXO18_ENST00000379999.5_Missense_Mutation_p.D219G|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	168	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAAGCAGAGGACAGTACGTCT	0.577																																					p.D219G		.											.	FBXO18-228	0			c.A656G						.						57	51	53					10																	5948345		2203	4300	6503	SO:0001583	missense	84893	exon4			CAGAGGACAGTAC	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.503A>G	10.37:g.5948345A>G	ENSP00000355415:p.Asp168Gly	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	464	99	NM_032807	0	0	11	15	4	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.461449	0.01062	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	2.18	0.27775	.	0.660669	0.16801	N	0.198994	T	0.27765	0.0683	L	0.44542	1.39	0.18873	N	0.999987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.23013	-1.0200	9	0.12766	T	0.61	-11.491	5.1436	0.14973	0.6721:0.0:0.1991:0.1288	.	219;168;94	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	G	168;219	.	ENSP00000355415:D168G	D	+	2	0	FBXO18	5988351	0.000000	0.05858	0.065000	0.19835	0.009000	0.06853	0.109000	0.15417	0.436000	0.26393	0.533000	0.62120	GAC	.		0.577	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		G	5948345	A	G	5948345	3	3	49	1	0	0	0	0	1	0	0	0	5753	275	10	4	675	4	FBXO18	10	5948345	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	4859708	5948345	129586402	144	10168											
SFMBT2	57713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7269870	7269870	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccatgctgcttgtgataatCtgcccagtcgaagtcctggc	10	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:7269870C>G	ENST00000361972.4	-	10	1240	c.1150G>C	c.(1150-1152)Gat>Cat	p.D384H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D384H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	384					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						TTGTGATAATCTGCCCAGTCG	0.433																																					p.D384H		.											.	SFMBT2-141	0			c.G1150C						.						57	60	59					10																	7269870		2203	4300	6503	SO:0001583	missense	57713	exon10			GATAATCTGCCCA	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.1150G>C	10.37:g.7269870C>G	ENSP00000355109:p.Asp384His	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	108	59	NM_001029880	0	0	0	0	0	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380857	0.82792	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.16324	2.35;2.35	5.21	5.21	0.72293	.	0.042884	0.85682	D	0.000000	T	0.43700	0.1259	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.26780	-1.0093	10	0.52906	T	0.07	.	18.715	0.91672	0.0:1.0:0.0:0.0	.	384	Q5VUG0	SMBT2_HUMAN	H	384	ENSP00000355109:D384H;ENSP00000380353:D384H	ENSP00000355109:D384H	D	-	1	0	SFMBT2	7309876	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.975000	0.70475	2.588000	0.87417	0.563000	0.77884	GAT	.		0.433	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		G	7269870	C	G	7269870	3	3	49	1	0	0	0	0	1	0	0	0	14203	913	32	3	1582	3	SFMBT2	10	7269870	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1321525	7269870	128264877	145	10169											
TAF3	83860	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr10	8051255	8051255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagtgccaaagcccccGtgcgcagcgtggtgactgag	16	13	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:8051255G>A	ENST00000344293.5	+	5	2736	c.2530G>A	c.(2530-2532)Gtg>Atg	p.V844M		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	844					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)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAAAGCCCCCGTGCGCAGCGT	0.721																																					p.V844M		.											.	TAF3-69	0			c.G2530A						.						11	11	11					10																	8051255		1723	3626	5349	SO:0001583	missense	83860	exon5			GCCCCCGTGCGCA	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.2530G>A	10.37:g.8051255G>A	ENSP00000340271:p.Val844Met	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	75	37	NM_031923	0	0	5	15	10	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277971	0.59758	.	.	ENSG00000165632	ENST00000344293	D	0.85258	-1.96	6.07	5.17	0.71159	Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000027	D	0.86460	0.5938	M	0.73962	2.25	0.58432	D	0.999997	D	0.56746	0.977	P	0.46299	0.511	D	0.85639	0.1275	10	0.30854	T	0.27	-21.776	15.5075	0.75753	0.0661:0.0:0.9339:0.0	.	844	Q5VWG9	TAF3_HUMAN	M	844	ENSP00000340271:V844M	ENSP00000340271:V844M	V	+	1	0	TAF3	8091261	1.000000	0.71417	0.062000	0.19696	0.029000	0.11900	9.397000	0.97276	1.581000	0.49865	0.655000	0.94253	GTG	.		0.721	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		A	8051255	G	A	8051255	3	1	49	1	0	0	0	0	1	0	0	0	15572	1145	40	1	2548	1	TAF3	10	8051255	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	781385	8051255	127483492	146	10170											
KIAA1217	56243	hgsc.bcm.edu;ucsc.edu	37	chr10	24783527	24783527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagttatagcaaagatgCgtctaggtaaaaaagaagaa	9	4	1	3	rs148941784		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:24783527C>T	ENST00000376454.3	+	7	1808	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A513V|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000430453.2_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	593					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCAAAGATGCGTCTAGGTAA	0.343													C|||	1	0.000199681	8e-04	0	5008	,	,		18392	0		0	False		,,,				2504	0				p.A593V		.											.	KIAA1217-98	0			c.C1778T						.	C	VAL/ALA,,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	76	72	73		1538,,1778	5.8	1	10	dbSNP_134	73	0,8600		0,0,4300	yes	missense,intron,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	64,,64	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging,,possibly-damaging	513/1265,,593/1944	24783527	5,13001	2203	4300	6503	SO:0001583	missense	56243	exon7			AAGATGCGTCTAG	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1778C>T	10.37:g.24783527C>T	ENSP00000365637:p.Ala593Val	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	56	6	NM_019590	0	0	0	0	0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.98	2.697119	0.48202	0.001135	0.0	ENSG00000120549	ENST00000376462;ENST00000376454	T;T	0.52295	0.67;0.67	5.78	5.78	0.91487	.	0.541874	0.20009	N	0.101172	T	0.37705	0.1013	L	0.35723	1.085	0.80722	D	1	P	0.42357	0.777	B	0.31016	0.123	T	0.22800	-1.0206	10	0.30854	T	0.27	.	20.3681	0.98887	0.0:1.0:0.0:0.0	.	593	Q5T5P2	SKT_HUMAN	V	513;593	ENSP00000365645:A513V;ENSP00000365637:A593V	ENSP00000365637:A593V	A	+	2	0	KIAA1217	24823533	0.990000	0.36364	0.969000	0.41365	0.966000	0.64601	2.929000	0.48916	2.890000	0.99128	0.655000	0.94253	GCG	C|0.999;T|0.001		0.343	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24783527	C	T	24783527	3	4	49	1	0	0	0	0	1	0	0	0	8243	768	27	1	1804	1	KIAA1217	10	24783527	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	16732272	24783527	110751220	147	10171											
PTCHD3	374308	hgsc.bcm.edu;broad.mit.edu	37	chr10	27687470	27687470	+	Frame_Shift_Del	DEL	T	T	-													gatttttatctacatagacaTttttttcaaaaattttagta							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:27687470delT	ENST00000438700.3	-	4	2174	c.2057delA	c.(2056-2058)aatfs	p.N686fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	686					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TACATAGACATTTTTTTCAAA	0.303																																					p.N686fs		.											.	PTCHD3-94	0			c.2057delA						.						36	38	38					10																	27687470		2199	4289	6488	SO:0001589	frameshift_variant	374308	exon4			TAGACATTTTTTT	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.2057delA	10.37:g.27687470delT	ENSP00000417658:p.Asn686fs	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	33	12	NM_001034842	0	0	0	0	0	I3L499|Q6ZU28	Frame_Shift_Del	DEL	ENST00000438700.3	37	CCDS31173.1																																																																																			.		0.303	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		-	27687470	T	-	27687470	7	5	49	1	0	1	0	1	0	0	0	0	12776	1493	52	0	250	0	PTCHD3	10	27687470	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	2903943	27687470	107847277	148	10172											
ZNF25	219749	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	38241708	38241710	+	In_Frame_Del	DEL	AGA	AGA	-													catgaggtatgccttcacatAgaagaacttcccacattcag					rs1208607		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:38241708_38241710delAGA	ENST00000302609.7	-	6	928_930	c.716_718delTCT	c.(715-720)ttctat>tat	p.F239del	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GCCTTCACATAGAAGAACTTCCC	0.438																																					p.239_240del		.											.	ZNF25-154	0			c.716_718del						.																																			SO:0001651	inframe_deletion	219749	exon6			TCACATAGAAGAA	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.716_718delTCT	10.37:g.38241711_38241713delAGA	ENSP00000302222:p.Phe239del	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	195	74	NM_145011	0	0	0	0	0	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	In_Frame_Del	DEL	ENST00000302609.7	37	CCDS7195.1																																																																																			.		0.438	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		-	38241710	AGA	-	38241708	7	5	49	1	0	1	0	1	0	0	0	0	17842	420	15	0	656	0	ZNF25	10	38241708	In_Frame_Del	DEL	AGA	TCGA-OR-A5LB-01A-11D-A29I-10	10554238	38241708	97293039	149	10173											
RASSF4	83937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	45484790	45484790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcaccatgacaaccctGcaggtgctcaccctgctgct	8	16	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:45484790G>A	ENST00000340258.5	+	7	713	c.600G>A	c.(598-600)ctG>ctA	p.L200L	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Silent_p.L209L|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	816					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGACAACCCTGCAGGTGCTCA	0.557																																					p.L200L		.											.	RASSF4-290	0			c.G600A						.						90	77	81					10																	45484790		2203	4300	6503	SO:0001819	synonymous_variant	83937	exon7			AACCCTGCAGGTG	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.600G>A	10.37:g.45484790G>A		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	299	148	NM_032023	0	0	2	3	1	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	CCDS7208.1																																																																																			.		0.557	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		A	45484790	G	A	45484790	2	1	49	1	0	0	0	0	0	0	0	1	13133	1306	46	3		3	RASSF4	10	45484790	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	7243082	45484790	90049957	150	10174											
NCOA4	8031	broad.mit.edu	37	chr10	51579175	51579175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccagagtggcagctccAgtaatagagaaccccttttg	10	10	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:51579175A>C	ENST00000443446.1	+	2	263	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	NCOA4_ENST00000452682.1_Missense_Mutation_p.S28R|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	12					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						TGGCAGCTCCAGTAATAGAGA	0.408			T	RET	papillary thyroid																																p.S28R		.		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	NCOA4-1042	0			c.A82C						.						48	55	53					10																	51579175		2203	4300	6503	SO:0001583	missense	8031	exon3			AGCTCCAGTAATA	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.34A>C	10.37:g.51579175A>C	ENSP00000390713:p.Ser12Arg	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	90	10	NM_001145261	0	0	15	16	1	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921905	0.73213	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.21191	2.36;2.34;2.34;2.34;2.02;2.34	5.79	5.79	0.91817	.	0.460516	0.24321	N	0.039555	T	0.23806	0.0576	L	0.32530	0.975	0.80722	D	1	P;D;P	0.53619	0.931;0.961;0.808	P;P;P	0.49752	0.621;0.621;0.467	T	0.01262	-1.1402	10	0.66056	D	0.02	-18.2451	11.0233	0.47730	0.8279:0.0:0.0:0.1721	.	28;28;12	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	R	28;28;12;12;12;12;12	ENSP00000405146:S28R;ENSP00000395465:S28R;ENSP00000363200:S12R;ENSP00000344552:S12R;ENSP00000363195:S12R;ENSP00000390713:S12R	ENSP00000332421:S12R	S	+	1	0	NCOA4	51249181	0.809000	0.29036	0.998000	0.56505	0.989000	0.77384	0.888000	0.28268	2.212000	0.71576	0.533000	0.62120	AGT	.		0.408	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		C	51579175	A	C	51579175	3	2	49	1	0	0	0	0	1	0	0	0	10270	188	7	5	88	5	NCOA4	10	51579175	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	6094385	51579175	83955572	151	10175											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	56423995	56423995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatccctgaagctaaacAtgtccagagataaaactgtc	8	9	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:56423995A>C	ENST00000320301.6	-	2	422	c.28T>G	c.(28-30)Tgt>Ggt	p.C10G	PCDH15_ENST00000373965.2_Missense_Mutation_p.C10G|PCDH15_ENST00000395433.1_Missense_Mutation_p.C10G|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373957.3_Missense_Mutation_p.C10G|PCDH15_ENST00000395430.1_Missense_Mutation_p.C10G|PCDH15_ENST00000373955.1_Missense_Mutation_p.C10G|PCDH15_ENST00000395432.2_Missense_Mutation_p.C10G|PCDH15_ENST00000395440.1_Missense_Mutation_p.C10G|PCDH15_ENST00000361849.3_Missense_Mutation_p.C10G|PCDH15_ENST00000414778.1_Missense_Mutation_p.C10G|PCDH15_ENST00000395442.1_Missense_Mutation_p.C10G|PCDH15_ENST00000395445.1_Missense_Mutation_p.C10G|PCDH15_ENST00000437009.1_Missense_Mutation_p.C10G|PCDH15_ENST00000395446.1_Missense_Mutation_p.C10G|PCDH15_ENST00000395438.1_Missense_Mutation_p.C10G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	10					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)				GAAGCTAAACATGTCCAGAGA	0.398										HNSCC(58;0.16)																											p.C10G		.											.	PCDH15-193	0			c.T28G						.						86	77	80					10																	56423995		2203	4300	6503	SO:0001583	missense	65217	exon2			CTAAACATGTCCA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.28T>G	10.37:g.56423995A>C	ENSP00000322604:p.Cys10Gly	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	108	51	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	9.830	1.188250	0.21954	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	0.52;0.57;0.44;0.45;0.45;0.68;0.58;0.35;0.39;-0.32;0.15;0.39;0.39;0.45;0.58;0.86	5.8	2.04	0.26737	.	.	.	.	.	T	0.46229	0.1382	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B;P;P;P;B;B;B;B	0.35793	0.069;0.276;0.276;0.276;0.374;0.276;0.069;0.095;0.521;0.521;0.51;0.017;0.068;0.081;0.276	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.34138	0.041;0.101;0.101;0.129;0.084;0.129;0.041;0.046;0.142;0.142;0.101;0.039;0.176;0.064;0.101	T	0.29882	-0.9997	9	0.44086	T	0.13	.	4.7504	0.13057	0.7066:0.0:0.1543:0.1392	.	10;10;10;10;10;10;10;10;10;10;10;10;10;10;10	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	10	ENSP00000363076:C10G;ENSP00000410304:C10G;ENSP00000378826:C10G;ENSP00000378832:C10G;ENSP00000378833:C10G;ENSP00000378829:C10G;ENSP00000378827:C10G;ENSP00000378820:C10G;ENSP00000354950:C10G;ENSP00000378821:C10G;ENSP00000363068:C10G;ENSP00000322604:C10G;ENSP00000378818:C10G;ENSP00000412628:C10G;ENSP00000363066:C10G;ENSP00000394465:C10G	ENSP00000322604:C10G	C	-	1	0	PCDH15	56094001	0.913000	0.31002	0.005000	0.12908	0.563000	0.35712	0.853000	0.27777	0.090000	0.17273	0.402000	0.26972	TGT	.		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		C	56423995	A	C	56423995	3	2	49	1	0	0	0	0	1	0	0	0	11550	217	8	5	7630	5	PCDH15	10	56423995	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	4844820	56423995	79110752	152	10176											
EGR2	1959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	64573625	64573625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtgagtggagggggcAcccgcagggtgtccagtggg	22	7	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:64573625A>G	ENST00000242480.3	-	2	1098	c.773T>C	c.(772-774)gTg>gCg	p.V258A	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.V208A|EGR2_ENST00000439032.1_Missense_Mutation_p.V258A	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	258					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGAGGGGGCACCCGCAGGGT	0.617																																					p.V258A		.											.	EGR2-92	0			c.T773C						.						37	41	40					10																	64573625		2203	4300	6503	SO:0001583	missense	1959	exon2			GGGGGCACCCGCA	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.773T>C	10.37:g.64573625A>G	ENSP00000242480:p.Val258Ala	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	146	62	NM_000399	0	0	0	0	0	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819324	0.32145	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.13089	2.62;2.62;2.68	4.96	4.96	0.65561	.	0.073313	0.52532	D	0.000061	T	0.14743	0.0356	M	0.64404	1.975	0.40954	D	0.98456	B;B	0.27229	0.172;0.056	B;B	0.23716	0.048;0.008	T	0.03887	-1.0995	10	0.41790	T	0.15	-26.2377	8.8388	0.35129	0.9126:0.0:0.0874:0.0	.	208;258	P11161-2;P11161	.;EGR2_HUMAN	A	258;258;208	ENSP00000242480:V258A;ENSP00000402040:V258A;ENSP00000387634:V208A	ENSP00000242480:V258A	V	-	2	0	EGR2	64243631	0.495000	0.26051	1.000000	0.80357	0.961000	0.63080	2.945000	0.49043	2.069000	0.61940	0.533000	0.62120	GTG	.		0.617	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		G	64573625	A	G	64573625	3	3	49	1	0	0	0	0	1	0	0	0	4986	159	6	4	661	4	EGR2	10	64573625	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	8149630	64573625	70961122	153	10177											
UNC5B	219699	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73046620	73046620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccactgccaccgtcatcGtctacggtgcgggcctttcg	11	16	2	0	rs143653939	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:73046620G>A	ENST00000335350.6	+	5	1143	c.727G>A	c.(727-729)Gtc>Atc	p.V243I	UNC5B_ENST00000373192.4_Missense_Mutation_p.V243I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	243					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						CACCGTCATCGTCTACGGTGC	0.652													G|||	5	0.000998403	0.0038	0	5008	,	,		20310	0		0	False		,,,				2504	0				p.V243I		.											.	UNC5B-228	0			c.G727A						.	G	ILE/VAL	12,4394	19.1+/-41.9	0,12,2191	115	112	113		727	4.4	0.9	10	dbSNP_134	113	0,8600		0,0,4300	no	missense	UNC5B	NM_170744.4	29	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	probably-damaging	243/946	73046620	12,12994	2203	4300	6503	SO:0001583	missense	219699	exon5			GTCATCGTCTACG	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.727G>A	10.37:g.73046620G>A	ENSP00000334329:p.Val243Ile	Somatic	160	1		WXS	Illumina GAIIx	Phase_I	274	126	NM_001244889	0	0	0	0	0	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.28	3.589177	0.66105	0.002724	0.0	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.74209	-0.82;-0.82	5.34	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84842	0.0808	10	0.38643	T	0.18	-37.0881	13.8955	0.63768	0.0733:0.0:0.9267:0.0	.	243;243	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	I	243	ENSP00000334329:V243I;ENSP00000362288:V243I	ENSP00000334329:V243I	V	+	1	0	UNC5B	72716626	1.000000	0.71417	0.885000	0.34714	0.115000	0.19883	8.029000	0.88807	1.261000	0.44149	0.561000	0.74099	GTC	G|0.999;A|0.001		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		A	73046620	G	A	73046620	3	1	49	1	0	0	0	0	1	0	0	0	17041	1145	40	1	745	1	UNC5B	10	73046620	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	8472995	73046620	62488127	154	10178											
MYOF	26509	broad.mit.edu;bcgsc.ca	37	chr10	95191176	95191176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacactcaccccagtatcttGccctttttcatttagcaggg	6	13	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:95191176G>T	ENST00000359263.4	-	4	333	c.334C>A	c.(334-336)Caa>Aaa	p.Q112K	MYOF_ENST00000371501.4_Missense_Mutation_p.Q112K|MYOF_ENST00000358334.5_Missense_Mutation_p.Q112K|MYOF_ENST00000371489.1_Missense_Mutation_p.Q112K|MYOF_ENST00000371488.3_Missense_Mutation_p.Q112K|MYOF_ENST00000371502.4_Missense_Mutation_p.Q112K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	112					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAGTATCTTGCCCTTTTTCA	0.473																																					p.Q112K		.											.	MYOF-93	0			c.C334A						.						100	94	96					10																	95191176		1913	4133	6046	SO:0001583	missense	26509	exon4			TATCTTGCCCTTT	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.334C>A	10.37:g.95191176G>T	ENSP00000352208:p.Gln112Lys	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	225	8	NM_133337	0	0	0	0	0	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331434	0.41297	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	6.03	6.03	0.97812	C2 calcium/lipid-binding domain, CaLB (1);	0.169398	0.53938	D	0.000050	T	0.37598	0.1009	L	0.53249	1.67	0.47905	D	0.99954	B;B;B	0.18166	0.012;0.002;0.026	B;B;B	0.20767	0.031;0.016;0.011	T	0.06197	-1.0840	10	0.29301	T	0.29	-8.215	17.492	0.87707	0.0:0.0:1.0:0.0	.	94;112;112	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	K	112	ENSP00000351094:Q112K;ENSP00000352208:Q112K;ENSP00000360556:Q112K;ENSP00000360557:Q112K;ENSP00000360544:Q112K;ENSP00000360543:Q112K	ENSP00000351094:Q112K	Q	-	1	0	MYOF	95181166	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	3.946000	0.56644	2.868000	0.98415	0.557000	0.71058	CAA	.		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		T	95191176	G	T	95191176	3	4	49	1	0	0	0	0	1	0	0	0	10127	1328	46	3	6055	3	MYOF	10	95191176	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	22144556	95191176	40343571	155	10179											
GBF1	8729	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	104136514	104136514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgacaactttgagctctgCgtcaagactctccggatctt	8	13	4	3	rs139000128		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:104136514C>T	ENST00000369983.3	+	32	4502	c.4242C>T	c.(4240-4242)tgC>tgT	p.C1414C		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	1414					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)		TTGAGCTCTGCGTCAAGACTC	0.552																																					p.C1415C		.											.	GBF1-91	0			c.C4245T						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	75	72	73		4245,4242,4242	-8.3	0.6	10	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1415/1857,1414/1856,1414/1860	104136514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8729	exon32			GCTCTGCGTCAAG	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.4242C>T	10.37:g.104136514C>T		Somatic	30	1		WXS	Illumina GAIIx	Phase_I	40	6	NM_001199378	0	0	47	57	10	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	CCDS7533.1																																																																																			C|1.000;T|0.000		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104136514	C	T	104136514	2	4	49	1	0	0	0	0	0	0	0	1	6296	776	27	1		1	GBF1	10	104136514	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	8945338	104136514	31398233	156	10180											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_024886	0	0	1	1	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	49	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	74221	104210735	31324012	157	10181											
CALHM1	255022	bcgsc.ca	37	chr10	105215373	105215373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgtctcgtcgaagagCttgcgctcgatgtcgatata	12	10	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:105215373C>T	ENST00000329905.5	-	2	823	c.687G>A	c.(685-687)aaG>aaA	p.K229K	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	229					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTCGAAGAGCTTGCGCTCGA	0.592																																					p.K229K		.											.	CALHM1-91	0			c.G687A						.						82	67	72					10																	105215373		2203	4300	6503	SO:0001819	synonymous_variant	255022	exon2			GAAGAGCTTGCGC	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.687G>A	10.37:g.105215373C>T		Somatic	156	4		WXS	Illumina GAIIx	Phase_I	323	152	NM_001001412	0	0	0	0	0	Q5W091	Silent	SNP	ENST00000329905.5	37	CCDS7550.1																																																																																			.		0.592	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		T	105215373	C	T	105215373	2	4	49	1	0	0	0	0	0	0	0	1	2589	796	28	3		3	CALHM1	10	105215373	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1004638	105215373	30319374	158	10182											
ADRA2A	150	broad.mit.edu	37	chr10	112839104	112839104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccacgatttccgccgCgccttcaagaagatcctctg	7	15	3	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:112839104C>T	ENST00000280155.2	+	1	2315	c.1350C>T	c.(1348-1350)cgC>cgT	p.R450R		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	435					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)	ATTTCCGCCGCGCCTTCAAGA	0.602																																					p.R450R	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.C1350T						.						95	94	95					10																	112839104		2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			CCGCCGCGCCTTC	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.1350C>T	10.37:g.112839104C>T		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	190	5	NM_000681	0	0	32	33	1	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.602	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112839104	C	T	112839104	2	4	49	1	0	0	0	0	0	0	0	1	337	755	27	1		1	ADRA2A	10	112839104	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	7623731	112839104	22695643	159	10183											
C10orf118	55088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	115904312	115904312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccactttactttgatgaCgtgagagttaatgtcttcct	8	9	1	3	rs201374071		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:115904312C>T	ENST00000369287.3	-	6	1431	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		389										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACTTTGATGACGTGAGAGTTA	0.313													C|||	1	0.000199681	0	0	5008	,	,		17046	0.001		0	False		,,,				2504	0				p.V389I		.											.	C10orf118-92	0			c.G1165A						.						204	192	196					10																	115904312		2202	4298	6500	SO:0001583	missense	55088	exon6			TGATGACGTGAGA																												ENST00000369287.3:c.1165G>A	10.37:g.115904312C>T	ENSP00000358293:p.Val389Ile	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	238	35	NM_018017	0	0	3	3	0	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	5.364|5.364	0.252383|0.252383	0.10185|0.10185	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000430353	.|T	.|0.46451	.|0.87	5.42|5.42	-1.75|-1.75	0.08031|0.08031	.|.	.|0.440664	.|0.26048	.|N	.|0.026642	T|T	0.17195|0.17195	0.0413|0.0413	N|N	0.10733|0.10733	0.035|0.035	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.02975|0.02975	-1.1087|-1.1087	5|10	.|0.33940	.|T	.|0.23	.|.	5.9526|5.9526	0.19255|0.19255	0.0:0.4628:0.163:0.3742|0.0:0.4628:0.163:0.3742	.|.	.|389	.|Q7Z3E2	.|CJ118_HUMAN	H|I	17|389;495	.|ENSP00000358293:V389I	.|ENSP00000358293:V389I	R|V	-|-	2|1	0|0	C10orf118|C10orf118	115894302|115894302	0.998000|0.998000	0.40836|0.40836	0.971000|0.971000	0.41717|0.41717	0.985000|0.985000	0.73830|0.73830	0.582000|0.582000	0.23834|0.23834	-0.233000|-0.233000	0.09797|0.09797	-0.458000|-0.458000	0.05436|0.05436	CGT|GTC	C|0.999;T|0.000		0.313	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			T	115904312	C	T	115904312	3	4	49	1	0	0	0	0	1	0	0	0	1592	536	19	1	1575	1	C10orf118	10	115904312	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	3065208	115904312	19630435	160	10184											
PNLIPRP3	119548	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118220558	118220558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgccaactttgttgacGttattcatacaaatgcagct	8	9	1	1	rs114674677	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:118220558G>A	ENST00000369230.3	+	6	792	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	216					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.V216I(1)|p.V216F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGTTGACGTTATTCATAC	0.438													G|||	5	0.000998403	0.003	0.0014	5008	,	,		19043	0		0	False		,,,				2504	0				p.V216I		.											.	PNLIPRP3-91	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G646A						.	G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	140	125	130		646	2.8	0	10	dbSNP_132	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PNLIPRP3	NM_001011709.2	29	0,10,6493	AA,AG,GG		0.0233,0.1816,0.0769	probably-damaging	216/468	118220558	10,12996	2203	4300	6503	SO:0001583	missense	119548	exon6			GTTGACGTTATTC	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.646G>A	10.37:g.118220558G>A	ENSP00000358232:p.Val216Ile	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	182	80	NM_001011709	0	0	1	1	0		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	20.3	3.962150	0.74016	0.001816	2.33E-4	ENSG00000203837	ENST00000369230	D	0.91945	-2.94	4.93	2.85	0.33270	Lipase, N-terminal (1);	0.119302	0.34959	N	0.003545	D	0.84151	0.5409	L	0.51853	1.615	0.23747	N	0.996955	P	0.40875	0.731	B	0.37198	0.243	T	0.77713	-0.2485	10	0.56958	D	0.05	.	10.1136	0.42576	0.2401:0.0:0.7599:0.0	.	216	Q17RR3	LIPR3_HUMAN	I	216	ENSP00000358232:V216I	ENSP00000358232:V216I	V	+	1	0	PNLIPRP3	118210548	0.981000	0.34729	0.006000	0.13384	0.586000	0.36452	1.605000	0.36815	0.537000	0.28751	0.591000	0.81541	GTT	G|0.999;A|0.001		0.438	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		A	118220558	G	A	118220558	3	1	49	1	0	0	0	0	1	0	0	0	12191	1145	40	1	668	1	PNLIPRP3	10	118220558	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2316246	118220558	17314189	161	10185											
PRLHR	2834	broad.mit.edu	37	chr10	120354224	120354224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagatggccagcacagcgTaggcgctgaggcgcagcgag	16	13	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:120354224T>C	ENST00000369169.1	-	1	532	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	PRLHR_ENST00000239032.2_Missense_Mutation_p.Y178C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	178					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CAGCACAGCGTAGGCGCTGAG	0.687																																					p.Y178C		.											.	PRLHR-90	0			c.A533G						.						18	20	19					10																	120354224		2197	4291	6488	SO:0001583	missense	2834	exon2			ACAGCGTAGGCGC	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.533A>G	10.37:g.120354224T>C	ENSP00000358167:p.Tyr178Cys	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	21	4	NM_004248	0	0	0	0	0	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665554	0.29604	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.71817	-0.6;-0.6	4.54	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.410669	0.24935	N	0.034431	T	0.53465	0.1798	L	0.28115	0.83	0.34124	D	0.664482	P	0.39404	0.672	B	0.37989	0.262	T	0.61342	-0.7082	10	0.36615	T	0.2	.	8.7758	0.34760	0.0:0.1591:0.0:0.8409	.	178	P49683	PRLHR_HUMAN	C	178	ENSP00000239032:Y178C;ENSP00000358167:Y178C	ENSP00000239032:Y178C	Y	-	2	0	PRLHR	120344214	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.221000	0.42917	0.794000	0.33899	0.533000	0.62120	TAC	.		0.687	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		C	120354224	T	C	120354224	3	2	49	1	0	0	0	0	1	0	0	0	12572	1638	57	4	583	4	PRLHR	10	120354224	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	2133666	120354224	15180523	162	10186											
FAM45A	404636	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	120879946	120879946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcaccccaagatagaagCggtccaggagttcaccaggt	11	11	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:120879946C>T	ENST00000361432.2	+	5	601	c.575C>T	c.(574-576)gCg>gTg	p.A192V	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.A41V|FAM45A_ENST00000535029.1_Intron	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	192										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)		AAGATAGAAGCGGTCCAGGAG	0.408																																					p.A192V		.											.	FAM45A-91	0			c.C575T						.						89	85	86					10																	120879946		2203	4300	6503	SO:0001583	missense	404636	exon5			TAGAAGCGGTCCA	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.575C>T	10.37:g.120879946C>T	ENSP00000354688:p.Ala192Val	Somatic	273	2		WXS	Illumina GAIIx	Phase_I	517	102	NM_207009	0	0	15	19	4	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402207	0.42613	.	.	ENSG00000119979	ENST00000361432;ENST00000544016	.	.	.	5.96	4.13	0.48395	.	0.048738	0.85682	N	0.000000	T	0.58337	0.2115	M	0.65975	2.015	0.58432	D	0.999999	B;B;B;B	0.18310	0.01;0.027;0.008;0.006	B;B;B;B	0.15052	0.007;0.012;0.004;0.01	T	0.54351	-0.8307	9	0.37606	T	0.19	.	11.1671	0.48550	0.0:0.8585:0.0:0.1415	.	119;41;184;192	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.;.;.;FA45A_HUMAN	V	192;41	.	ENSP00000354688:A192V	A	+	2	0	FAM45A	120869936	1.000000	0.71417	0.973000	0.42090	0.855000	0.48748	4.200000	0.58433	0.872000	0.35775	0.655000	0.94253	GCG	.		0.408	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		T	120879946	C	T	120879946	3	4	49	1	0	0	0	0	1	0	0	0	5586	768	27	1	593	1	FAM45A	10	120879946	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	525722	120879946	14654801	163	10187											
DOCK1	1793	ucsc.edu;bcgsc.ca	37	chr10	128830513	128830513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcatgcagagccttgGgagctgcaccattagcaagg	13	10	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:128830513G>A	ENST00000280333.6	+	18	1887	c.1778G>A	c.(1777-1779)gGg>gAg	p.G593E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	593	DHR-1.				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)		CAGAGCCTTGGGAGCTGCACC	0.567																																					p.G593E		.											.	DOCK1-698	0			c.G1778A						.						26	28	27					10																	128830513		2149	4244	6393	SO:0001583	missense	1793	exon18			GCCTTGGGAGCTG	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.1778G>A	10.37:g.128830513G>A	ENSP00000280333:p.Gly593Glu	Somatic	286	2		WXS	Illumina GAIIx	Phase_I	620	277	NM_001380	0	0	0	5	5	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471318	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.12465	2.68	3.85	3.85	0.44370	.	0.118870	0.56097	D	0.000033	T	0.20210	0.0486	L	0.60455	1.87	0.54753	D	0.999985	B;B	0.33000	0.393;0.393	B;B	0.39971	0.315;0.315	T	0.05733	-1.0867	10	0.26408	T	0.33	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	593;593	B2RUU3;Q14185	.;DOCK1_HUMAN	E	593	ENSP00000280333:G593E	ENSP00000280333:G593E	G	+	2	0	DOCK1	128720503	1.000000	0.71417	0.232000	0.24009	0.973000	0.67179	5.314000	0.65804	2.415000	0.81967	0.655000	0.94253	GGG	.		0.567	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	128830513	G	A	128830513	3	1	49	1	0	0	0	0	1	0	0	0	4698	1232	43	3	1848	3	DOCK1	10	128830513	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	7950567	128830513	6704234	164	10188											
PWWP2B	170394	broad.mit.edu	37	chr10	134218800	134218800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccagggcaagggagagGtggtcaagatcccctcccgc	14	15	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr10:134218800G>A	ENST00000305233.5	+	2	855	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	PWWP2B_ENST00000368609.4_Missense_Mutation_p.V266M	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	266										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAAGGGAGAGGTGGTCAAGAT	0.701																																					p.V266M		.											.	PWWP2B-90	0			c.G796A						.						15	20	18					10																	134218800		2189	4283	6472	SO:0001583	missense	170394	exon2			GGAGAGGTGGTCA	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.796G>A	10.37:g.134218800G>A	ENSP00000306324:p.Val266Met	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	344	8	NM_001098637	0	0	47	48	1	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930647	0.92389	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.61627	0.09;1.07	4.65	4.65	0.58169	.	0.000000	0.64402	U	0.000005	T	0.68293	0.2985	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72459	-0.4287	10	0.87932	D	0	-12.4493	16.9232	0.86168	0.0:0.0:1.0:0.0	.	266	Q6NUJ5	PWP2B_HUMAN	M	266	ENSP00000306324:V266M;ENSP00000357598:V266M	ENSP00000306324:V266M	V	+	1	0	PWWP2B	134068790	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.906000	0.92626	2.318000	0.78349	0.563000	0.77884	GTG	.		0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		A	134218800	G	A	134218800	3	1	49	1	0	0	0	0	1	0	0	0	12891	1261	44	3	802	3	PWWP2B	10	134218800	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	5388287	134218800	1315947	165	10189											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651158	1651169	+	In_Frame_Del	DEL	GGCTGTGGCTCT	GGCTGTGGCTCT	-													gctgtggctccggctgtggaGgctgtggctctggctgtggg					rs71454095|rs71454094	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:1651158_1651169delGGCTGTGGCTCT	ENST00000399676.2	+	1	126_137	c.88_99delGGCTGTGGCTCT	c.(88-99)ggctgtggctctdel	p.GCGS30del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						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)		cggctgtggaggctgtggctctggctgtgggg	0.708																																					p.30_33del		.											.	KRTAP5-5-23	0			c.88_99del						.			96,3734		5,86,1824						0.1	0			33	221,7503		7,207,3648	no	coding	KRTAP5-5	NM_001001480.2		12,293,5472	A1A1,A1R,RR		2.8612,2.5065,2.7436				317,11237				SO:0001651	inframe_deletion	439915	exon1			TGTGGAGGCTGTG	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.88_99delGGCTGTGGCTCT	11.37:g.1651158_1651169delGGCTGTGGCTCT	ENSP00000382584:p.Gly30_Ser33del	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	72	7	NM_001001480	0	0	0	0	0	A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.708	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			-	1651169	GGCTGTGGCTCT	-	1651158	7	5	49	1	0	1	0	1	0	0	0	0	8592	1000	35	0	90	0	KRTAP5-5	11	1651158	In_Frame_Del	DEL	GGCTGTGGCTCT	TCGA-OR-A5LB-01A-11D-A29I-10		1651158	133355358	166	10190											
SYT8	90019	hgsc.bcm.edu;ucsc.edu	37	chr11	1858479	1858479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctccgaactgagcccGtaggcaaggtgcacctgggt	14	13	0	1	rs138799724	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:1858479G>A	ENST00000381968.3	+	9	1152	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.V328I|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000252898.7_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	342	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACTGAGCCCGTAGGCAAGGT	0.692													G|||	4	0.000798722	0	0	5008	,	,		15423	0		0.003	False		,,,				2504	0.001				p.V342I		.											.	SYT8-91	0			c.G1024A						.	G	ILE/VAL	1,4383		0,1,2191	22	24	24		1024	0.4	0.4	11	dbSNP_134	24	18,8546		0,18,4264	yes	missense	SYT8	NM_138567.3	29	0,19,6455	AA,AG,GG		0.2102,0.0228,0.1467	probably-damaging	342/402	1858479	19,12929	2192	4282	6474	SO:0001583	missense	90019	exon9			GAGCCCGTAGGCA	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1024G>A	11.37:g.1858479G>A	ENSP00000371394:p.Val342Ile	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	24	11	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	g|g	0.008|0.008	-1.861462|-1.861462	0.00552|0.00552	2.28E-4|2.28E-4	0.002102|0.002102	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.05319	.|3.46;3.46	3.61|3.61	0.398|0.398	0.16319|0.16319	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	.|.	.|.	.|.	.|.	T|T	0.01695|0.01695	0.0054|0.0054	N|N	0.03209|0.03209	-0.39|-0.39	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28512	.|0.214;0.013	.|B;B	.|0.17433	.|0.018;0.009	T|T	0.44862|0.44862	-0.9300|-0.9300	5|9	.|0.02654	.|T	.|1	.|.	2.9829|2.9829	0.05958|0.05958	0.4954:0.0:0.2995:0.2051|0.4954:0.0:0.2995:0.2051	.|.	.|342;328	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	H|I	340|342;328	.|ENSP00000371394:V342I;ENSP00000343691:V328I	.|ENSP00000343691:V328I	R|V	+|+	2|1	0|0	SYT8|SYT8	1815055|1815055	0.059000|0.059000	0.20769|0.20769	0.428000|0.428000	0.26697|0.26697	0.031000|0.031000	0.12232|0.12232	0.511000|0.511000	0.22739|0.22739	0.353000|0.353000	0.24079|0.24079	-0.436000|-0.436000	0.05848|0.05848	CGT|GTA	G|0.998;A|0.002		0.692	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			A	1858479	G	A	1858479	3	1	49	1	0	0	0	0	1	0	0	0	15527	1145	40	1	1058	1	SYT8	11	1858479	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	207321	1858479	133148037	167	10191											
TRIM21	6737	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	4409704	4409705	+	Frame_Shift_Ins	INS	-	-	T													gttcttcttcaaccaggaagINStttttttgctgcacaaactc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:4409704_4409705insT	ENST00000254436.7	-	4	672_673	c.560_561insA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|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 sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAACCAGGAAGTTTTTTTGCTG	0.485																																					p.N187fs		.											.	TRIM21-229	0			c.561_562insA						.																																			SO:0001589	frameshift_variant	6737	exon4			CAGGAAGTTTTTT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.561dupA	11.37:g.4409711_4409711dupT	ENSP00000254436:p.Asn187fs	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	32	21	NM_003141	0	0	0	0	0	Q5XPV5|Q96RF8	Frame_Shift_Ins	INS	ENST00000254436.7	37	CCDS44525.1																																																																																			.		0.485	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		T	4409705	-	T	4409704	7	5	49	1	0	1	1	0	0	0	0	0	16543	1020	36	0	882	0	TRIM21	11	4409704	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	2551225	4409704	130596812	168	10192											
DNHD1	144132	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	6550209	6550209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcagaagctggaagacatGagaggtggtcccatcaagaa	12	9	2	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:6550209G>A	ENST00000527990.2	+	10	2205	c.2205G>A	c.(2203-2205)atG>atA	p.M735I	DNHD1_ENST00000254579.6_Missense_Mutation_p.M735I			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	735					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGAAGACATGAGAGGTGGTC	0.532																																					p.M735I		.											.	DNHD1-24	0			c.G2205A						.						123	117	119					11																	6550209		692	1591	2283	SO:0001583	missense	144132	exon12			AGACATGAGAGGT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2205G>A	11.37:g.6550209G>A	ENSP00000436180:p.Met735Ile	Somatic	142	2		WXS	Illumina GAIIx	Phase_I	149	128	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	3.269	-0.149610	0.06585	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.25912	1.77;1.77	5.3	4.39	0.52855	.	.	.	.	.	T	0.18299	0.0439	L	0.29908	0.895	0.24162	N	0.995657	B	0.14438	0.01	B	0.10450	0.005	T	0.21621	-1.0240	9	0.20519	T	0.43	.	9.94	0.41574	0.0939:0.0:0.9061:0.0	.	735	Q96M86	DNHD1_HUMAN	I	735;735;1	ENSP00000254579:M735I;ENSP00000436180:M735I	ENSP00000254579:M735I	M	+	3	0	DNHD1	6506785	0.996000	0.38824	0.981000	0.43875	0.053000	0.15095	1.449000	0.35123	1.236000	0.43740	-0.145000	0.13849	ATG	.		0.532	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6550209	G	A	6550209	3	1	49	1	0	0	0	0	1	0	0	0	4682	1290	45	3	2252	3	DNHD1	11	6550209	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2140505	6550209	128456307	169	10193											
RNF141	50862	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	10540661	10540663	+	In_Frame_Del	DEL	CTC	CTC	-													ccatccatacagatacaacaCtcctcctcatcggtcagctg					rs377654959|rs139943988|rs140916965	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:10540661_10540663delCTC	ENST00000265981.2	-	5	602_604	c.460_462delGAG	c.(460-462)gagdel	p.E154del	RNF141_ENST00000528665.1_In_Frame_Del_p.E154del	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	154					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		AGATACAACACTCCTCCTCATCG	0.414																																					p.154_154del	Ovarian(8;377 410 25844 26058 41491)	.											.	RNF141-226	0			c.460_462del						.																																			SO:0001651	inframe_deletion	50862	exon5			ACAACACTCCTCC	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"RING-type (C3HC4) zinc fingers"	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.460_462delGAG	11.37:g.10540667_10540669delCTC	ENSP00000265981:p.Glu154del	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	44	35	NM_016422	0	0	0	0	0	A8K149|Q9NZB4	In_Frame_Del	DEL	ENST00000265981.2	37	CCDS7803.1																																																																																			.		0.414	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		-	10540663	CTC	-	10540661	7	5	49	1	0	1	0	1	0	0	0	0	13489	564	20	0	238	0	RNF141	11	10540661	In_Frame_Del	DEL	CTC	TCGA-OR-A5LB-01A-11D-A29I-10	3990452	10540661	124465855	170	10194											
KCNJ11	3767	bcgsc.ca	37	chr11	17409071	17409071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggccgtggcgcagggCgatcaccgcatgcttgctga	17	12	1	1	rs77131926	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:17409071C>T	ENST00000339994.4	-	1	1135	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	KCNJ11_ENST00000528731.1_Missense_Mutation_p.A103T|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	190					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGCGCAGGGCGATCACCGCA	0.592											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0	0.0014	5008	,	,		21929	0		0.002	False		,,,				2504	0				p.A190T		.											.	KCNJ11-91	0			c.G568A						.	C	THR/ALA,THR/ALA	2,4398	4.2+/-10.8	0,2,2198	61	43	49		568,307	4	1	11	dbSNP_131	49	0,8586		0,0,4293	yes	missense,missense	KCNJ11	NM_000525.3,NM_001166290.1	58,58	0,2,6491	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	190/391,103/304	17409071	2,12984	2200	4293	6493	SO:0001583	missense	3767	exon1			GCAGGGCGATCAC	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.568G>A	11.37:g.17409071C>T	ENSP00000345708:p.Ala190Thr	Somatic	107	3	717	WXS	Illumina GAIIx	Phase_I	93	82	NM_000525	0	0	0	0	0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	13.02	2.112827	0.37242	4.55E-4	0.0	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.94537	-3.45;-3.45;-3.45	5.16	3.97	0.46021	.	0.243784	0.41712	N	0.000831	D	0.89364	0.6694	L	0.44542	1.39	0.36043	D	0.84024	P	0.44578	0.838	B	0.33960	0.173	D	0.89183	0.3545	10	0.45353	T	0.12	.	11.2969	0.49284	0.0:0.8885:0.0:0.1115	.	190	B2RC52	.	T	190;103;103	ENSP00000345708:A190T;ENSP00000434755:A103T;ENSP00000432729:A103T	ENSP00000345708:A190T	A	-	1	0	KCNJ11	17365647	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	2.567000	0.45956	0.819000	0.34492	0.462000	0.41574	GCC	C|0.999;T|0.001		0.592	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		T	17409071	C	T	17409071	3	4	49	1	0	0	0	0	1	0	0	0	8072	768	27	1	608	1	KCNJ11	11	17409071	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	6868410	17409071	117597445	171	10195											
ABCC8	6833	bcgsc.ca	37	chr11	17452492	17452492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctttgaagaagctgacGtggcccacgaaagtctgtgg	13	10	2	3	rs1799857	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:17452492G>A	ENST00000389817.3	-	12	1754	c.1686C>T	c.(1684-1686)caC>caT	p.H562H	ABCC8_ENST00000302539.4_Silent_p.H562H|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	562	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGAAGCTGACGTGGCCCACGA	0.597													A|||	2153	0.429912	0.4841	0.3516	5008	,	,		20682	0.3125		0.4404	False		,,,				2504	0.5225				p.H562H		.											.	ABCC8-91	0			c.C1686T						.	A		2081,2319	603.7+/-390.2	497,1087,616	70	65	66		1686	-6.9	0.6	11	dbSNP_89	66	3876,4710	606.5+/-395.1	850,2176,1267	no	coding-synonymous	ABCC8	NM_000352.3		1347,3263,1883	AA,AG,GG		45.1433,47.2955,45.8725		562/1582	17452492	5957,7029	2200	4293	6493	SO:0001819	synonymous_variant	6833	exon12			GCTGACGTGGCCC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1686C>T	11.37:g.17452492G>A		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	182	7	NM_000352	0	0	0	0	0	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1																																																																																			G|0.566;A|0.434		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		A	17452492	G	A	17452492	2	1	49	1	0	0	0	0	0	0	0	1	58	1136	40	1		1	ABCC8	11	17452492	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	43421	17452492	117554024	172	10196											
HPS5	11234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18303703	18303703	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactcctggggggctggcctCgtgctcttgctctgtatgag	15	11	2	1	rs558229020		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:18303703C>T	ENST00000349215.3	-	22	3400	c.3123G>A	c.(3121-3123)acG>acA	p.T1041T	HPS5_ENST00000438420.2_Silent_p.T927T|HPS5_ENST00000537258.1_Silent_p.T148T|HPS5_ENST00000396253.3_Silent_p.T927T|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1041					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGCTGGCCTCGTGCTCTTGC	0.542									Hermansky-Pudlak syndrome																												p.T1041T		.											.	HPS5-133	0			c.G3123A						.						70	74	72					11																	18303703		2199	4293	6492	SO:0001819	synonymous_variant	11234	exon22	Familial Cancer Database	HPS, HPS1-8	TGGCCTCGTGCTC	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.3123G>A	11.37:g.18303703C>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	72	66	NM_181507	0	0	0	14	14	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																			.		0.542	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18303703	C	T	18303703	2	4	49	1	0	0	0	0	0	0	0	1	7369	871	31	1		1	HPS5	11	18303703	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	851211	18303703	116702813	173	10197											
SLC39A13	91252	broad.mit.edu	37	chr11	47433996	47433996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagatgttcctggacaGcaaggaggaggggaccagcc	17	8	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:47433996G>A	ENST00000362021.4	+	4	557	c.515G>A	c.(514-516)aGc>aAc	p.S172N	SLC39A13_ENST00000524928.1_Missense_Mutation_p.S172N|SLC39A13_ENST00000533076.1_Missense_Mutation_p.S172N|SLC39A13_ENST00000354884.4_Missense_Mutation_p.S172N|SLC39A13_ENST00000529740.1_3'UTR	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	172					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TTCCTGGACAGCAAGGAGGAG	0.632											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S172N		.											.	SLC39A13-90	0			c.G515A						.						60	54	56					11																	47433996		2201	4298	6499	SO:0001583	missense	91252	exon4			TGGACAGCAAGGA		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.515G>A	11.37:g.47433996G>A	ENSP00000354689:p.Ser172Asn	Somatic	141	0	946	WXS	Illumina GAIIx	Phase_I	129	4	NM_152264	0	0	31	31	0	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902267	0.33628	.	.	ENSG00000165915	ENST00000533076;ENST00000531419;ENST00000531865;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T;T;T	0.72167	0.82;0.87;-0.63;0.82;0.82;0.82;0.82	4.77	3.86	0.44501	.	0.486125	0.25208	N	0.032340	T	0.64951	0.2645	L	0.57536	1.79	0.37809	D	0.927963	B;B;P	0.48589	0.044;0.006;0.912	B;B;P	0.45794	0.027;0.016;0.493	T	0.63506	-0.6622	10	0.17369	T	0.5	-13.7147	7.4286	0.27113	0.2736:0.0:0.7264:0.0	.	172;172;172	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	N	172	ENSP00000434290:S172N;ENSP00000432302:S172N;ENSP00000434684:S172N;ENSP00000354689:S172N;ENSP00000346956:S172N;ENSP00000432499:S172N;ENSP00000437186:S172N	ENSP00000346956:S172N	S	+	2	0	SLC39A13	47390572	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.815000	0.38981	1.228000	0.43614	0.462000	0.41574	AGC	.		0.632	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		A	47433996	G	A	47433996	3	1	49	1	0	0	0	0	1	0	0	0	14661	971	34	3	525	3	SLC39A13	11	47433996	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	29130293	47433996	87572520	174	10198											
PGA5	5222	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61018642	61018642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcttccagggcatgaaCgtccccaccgaatctggaga	12	12	1	2	rs12280940	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:61018642C>T	ENST00000312403.5	+	9	1241	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	PGA4_ENST00000422676.2_Silent_p.N352N|PGA5_ENST00000451616.2_Silent_p.N198N|PGA5_ENST00000541528.1_Silent_p.N92N|CTD-2331C18.5_ENST00000537594.1_RNA	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	352					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						AGGGCATGAACGTCCCCACCG	0.572													c|||	508	0.101438	0.3177	0.0216	5008	,	,		17841	0.001		0.0109	False		,,,				2504	0.0624				p.N352N		.											.	PGA5-91	0			c.C1056T						.	C		1120,3284	400.4+/-331.6	165,790,1247	174	165	168		1056	0.7	0	11	dbSNP_120	168	39,8559	25.1+/-72.6	0,39,4260	no	coding-synonymous	PGA5	NM_014224.2		165,829,5507	TT,TC,CC		0.4536,25.4314,8.914		352/389	61018642	1159,11843	2202	4299	6501	SO:0001819	synonymous_variant	5222	exon9			CATGAACGTCCCC	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1056C>T	11.37:g.61018642C>T		Somatic	462	1		WXS	Illumina GAIIx	Phase_I	524	103	NM_014224	0	0	0	0	0	A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000312403.5	37	CCDS8001.1																																																																																			C|0.912;T|0.088		0.572	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		T	61018642	C	T	61018642	2	4	49	1	0	0	0	0	0	0	0	1	11811	535	19	1		1	PGA5	11	61018642	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	13584646	61018642	73987874	175	10199											
DPP3	10072	broad.mit.edu	37	chr11	66272116	66272116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggatgtggccggagggCgggccctgtacgaggggtat	21	8	0	0	rs147163996	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:66272116C>T	ENST00000360510.2	+	17	1977	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	DPP3_ENST00000541961.1_Missense_Mutation_p.R638W|DPP3_ENST00000530165.1_Missense_Mutation_p.R608W|DPP3_ENST00000532677.1_Missense_Mutation_p.R657W|DPP3_ENST00000453114.1_Missense_Mutation_p.R638W|DPP3_ENST00000531863.1_Missense_Mutation_p.R658W			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	638					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						GGCCGGAGGGCGGGCCCTGTA	0.602													C|||	2	0.000399361	0	0.0029	5008	,	,		17981	0		0	False		,,,				2504	0				p.R638W		.											.	DPP3-46	0			c.C1912T						.	C	TRP/ARG,TRP/ARG	0,4400		0,0,2200	90	81	84		1912,1912	2.5	1	11	dbSNP_134	84	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense	DPP3	NM_005700.3,NM_130443.2	101,101	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	638/738,638/738	66272116	2,12988	2200	4295	6495	SO:0001583	missense	10072	exon17			GGAGGGCGGGCCC	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.1912C>T	11.37:g.66272116C>T	ENSP00000353701:p.Arg638Trp	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	63	3	NM_130443	0	0	18	19	1	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361725	0.61403	0.0	2.33E-4	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.57	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.77486	2.375	0.47183	D	0.999348	D;D	0.89917	1.0;0.999	D;D	0.67725	0.95;0.953	T	0.51450	-0.8704	10	0.87932	D	0	.	12.8941	0.58089	0.4241:0.5759:0.0:0.0	.	657;638	G3V1D3;Q9NY33	.;DPP3_HUMAN	W	658;657;638;638;638;608;536;218	ENSP00000432782:R658W;ENSP00000435284:R657W;ENSP00000353701:R638W;ENSP00000389943:R638W;ENSP00000440502:R638W;ENSP00000436941:R608W	ENSP00000309957:R218W	R	+	1	2	DPP3	66028692	0.714000	0.27936	0.989000	0.46669	0.721000	0.41392	0.250000	0.18235	0.272000	0.22027	0.543000	0.68304	CGG	C|1.000;T|0.000		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			T	66272116	C	T	66272116	3	4	49	1	0	0	0	0	1	0	0	0	4742	759	27	1	1974	1	DPP3	11	66272116	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	5253474	66272116	68734400	176	10200											
CCS	9973	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66361154	66361154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcagagctgtgtggaCgcggtgcgcaaatccctgca	13	12	1	1	rs543925670		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:66361154C>T	ENST00000533244.1	+	2	522	c.81C>T	c.(79-81)gaC>gaT	p.D27D	CCDC87_ENST00000333861.3_5'Flank|CCS_ENST00000310190.4_Silent_p.D8D	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	27	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCTGTGTGGACGCGGTGCGCA	0.567													C|||	1	0.000199681	0	0	5008	,	,		18983	0		0	False		,,,				2504	0.001				p.D27D		.											.	CCS-90	0			c.C81T						.						86	76	79					11																	66361154		2200	4295	6495	SO:0001819	synonymous_variant	9973	exon2			TGTGGACGCGGTG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.81C>T	11.37:g.66361154C>T		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	98	89	NM_005125	0	0	1	29	28	Q2M366|Q8NEV0	Silent	SNP	ENST00000533244.1	37	CCDS8146.1																																																																																			.		0.567	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		T	66361154	C	T	66361154	2	4	49	1	0	0	0	0	0	0	0	1	2959	535	19	1		1	CCS	11	66361154	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	89038	66361154	68645362	177	10201											
MYO7A	4647	broad.mit.edu;bcgsc.ca	37	chr11	76900479	76900479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattctcgtgtctctctgCgtgggctgtttcgccccctc	11	14	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:76900479C>T	ENST00000409709.3	+	28	3866	c.3594C>T	c.(3592-3594)tgC>tgT	p.C1198C	MYO7A_ENST00000458637.2_Silent_p.C1198C|MYO7A_ENST00000409619.2_Silent_p.C1187C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1198	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				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						TGTCTCTCTGCGTGGGCTGTT	0.627																																					p.C1198C		.											.	MYO7A-138	0			c.C3594T						.						90	100	96					11																	76900479		2016	4155	6171	SO:0001819	synonymous_variant	4647	exon28			TCTCTGCGTGGGC	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.3594C>T	11.37:g.76900479C>T		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	83	5	NM_000260	0	0	0	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																			.		0.627	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76900479	C	T	76900479	2	4	49	1	0	0	0	0	0	0	0	1	10120	776	27	1		1	MYO7A	11	76900479	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	10539325	76900479	58106037	178	10202											
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	108383875	108383876	+	Frame_Shift_Ins	INS	-	-	TG													ttaatgtcattggatttatcINStgtgtgcggtatatacattt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:108383875_108383876insTG	ENST00000265843.4	-	6	2468_2469	c.2358_2359insCA	c.(2356-2361)acagatfs	p.D787fs	EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.D599fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.D780fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.D711fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	787					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGGATTTATCTGTGTGCGGTA	0.386																																					p.D787fs		.											.	EXPH5-95	0			c.2359_2360insCA						.																																			SO:0001589	frameshift_variant	23086	exon6			ATTTATCTGTGTG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2357_2358dupCA	11.37:g.108383880_108383881dupTG	ENSP00000265843:p.Asp787fs	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	75	57	NM_015065	0	0	0	0	0	Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.386	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		TG	108383876	-	TG	108383875	7	5	49	1	0	1	1	0	0	0	0	0	5338	913	32	0	3614	0	EXPH5	11	108383875	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	31483396	108383875	26622641	179	10203											
CADM1	23705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	115111112	115111112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctcgatcactgtcacGtctttcgtaaacagattctg	6	13	5	1	rs138296059		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:115111112G>A	ENST00000452722.3	-	2	173	c.153C>T	c.(151-153)gaC>gaT	p.D51D	CADM1_ENST00000537058.1_Silent_p.D51D|CADM1_ENST00000331581.6_Silent_p.D51D|CADM1_ENST00000542447.2_Silent_p.D51D|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.D51D	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACTGTCACGTCTTTCGTAA	0.418																																					p.D51D		.											.	CADM1-92	0			c.C153T						.	G	,	0,4402		0,0,2201	93	86	88		153,153	1.5	1	11	dbSNP_134	88	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	CADM1	NM_001098517.1,NM_014333.3	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	51/415,51/443	115111112	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	23705	exon2			TGTCACGTCTTTC	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.153C>T	11.37:g.115111112G>A		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	86	34	NM_014333	0	0	8	14	6		Silent	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.009|9.009	0.982092|0.982092	0.18889|0.18889	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	5.97|5.97	1.55|1.55	0.23275|0.23275	.|.	.|.	.|.	.|.	.|.	T|T	0.61874|0.61874	0.2382|0.2382	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59059|0.59059	-0.7525|-0.7525	4|4	.|.	.|.	.|.	.|.	12.6831|12.6831	0.56932|0.56932	0.3169:0.0:0.6831:0.0|0.3169:0.0:0.6831:0.0	.|.	.|.	.|.	.|.	C|M	50|35	.|.	.|.	R|T	-|-	1|2	0|0	CADM1|CADM1	114616322|114616322	0.882000|0.882000	0.30256|0.30256	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.006000|-0.006000	0.12833|0.12833	0.442000|0.442000	0.26555|0.26555	0.650000|0.650000	0.86243|0.86243	CGT|ACG	G|1.000;A|0.000		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		A	115111112	G	A	115111112	2	1	49	1	0	0	0	0	0	0	0	1	2573	1136	40	1		1	CADM1	11	115111112	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	6727237	115111112	19895404	180	10204											
SIK3	23387	ucsc.edu;bcgsc.ca	37	chr11	116734454	116734454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaggcctggatgctcGcagccccatctgagaaccgg	12	13	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:116734454G>A	ENST00000292055.4	-	15	1750	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	SIK3_ENST00000446921.2_Missense_Mutation_p.A630V|SIK3_ENST00000434315.2_Missense_Mutation_p.A471V|SIK3_ENST00000375288.1_Nonsense_Mutation_p.R4*|SIK3_ENST00000375300.1_Missense_Mutation_p.A630V|SIK3_ENST00000542607.1_Missense_Mutation_p.A572V|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	572					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGGATGCTCGCAGCCCCATC	0.542																																					p.A572V		.											.	SIK3-919	0			c.C1715T						.						155	150	151					11																	116734454		2201	4296	6497	SO:0001583	missense	23387	exon15			ATGCTCGCAGCCC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1715C>T	11.37:g.116734454G>A	ENSP00000292055:p.Ala572Val	Somatic	196	2		WXS	Illumina GAIIx	Phase_I	214	192	NM_025164	1	0	0	5	4	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	52|52	18.675634|18.675634	0.99909|0.99909	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000375288	T;T;T;T|.	0.79033|.	-1.21;-1.23;-1.22;-0.74|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Protein kinase-like domain (1);|.	0.000000|.	0.41097|.	U|.	0.000942|.	T|.	0.57475|.	0.2056|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.997;0.996|.	T|.	0.51268|.	-0.8727|.	9|.	0.72032|0.02654	D|T	0.01|1	.|.	19.4611|19.4611	0.94918|0.94918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	572;471;572|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	V|X	630;572;572;471|4	ENSP00000364449:A630V;ENSP00000292055:A572V;ENSP00000438108:A572V;ENSP00000415873:A471V|.	ENSP00000292055:A572V|ENSP00000364437:R4X	A|R	-|-	2|1	0|2	SIK3|SIK3	116239664|116239664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.592000|2.592000	0.87571|0.87571	0.561000|0.561000	0.74099|0.74099	GCG|CGA	.		0.542	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		A	116734454	G	A	116734454	3	1	49	1	0	0	0	0	1	0	0	0	14364	1087	38	1	2112	1	SIK3	11	116734454	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1623342	116734454	18272062	181	10205											
MLL	4297	broad.mit.edu	37	chr11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-													ttctgagctctcacctctcaCccccccgtcttctgtctctt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:118344186delC	ENST00000389506.5	+	3	2312	c.2312delC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					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)										TCACCTCTCACCCCCCCGTCT	0.453																																					p.T771fs		.											.	MLL-1255	0			c.2312delC						.						197	169	178					11																	118344186		2200	4296	6496	SO:0001589	frameshift_variant	4297	exon3			CTCTCACCCCCCC	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.2312delC	11.37:g.118344186delC	ENSP00000374157:p.Thr771fs	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	119	8	NM_001197104	0	0	0	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	CCDS31686.1																																																																																			.		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		-	118344186	C	-	118344186	7	5	49	1	0	1	0	1	0	0	0	0	9658	507	18	0	2322	0	MLL	11	118344186	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	1609732	118344186	16662330	182	10206											
MLL	4297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	118344494	118344495	+	Frame_Shift_Del	DEL	AG	AG	-													gcgtggagaaggacaagagtAgagagagagaccgggagaga					rs369821804		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:118344494_118344495delAG	ENST00000389506.5	+	3	2620_2621	c.2620_2621delAG	c.(2620-2622)agafs	p.R874fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.R874fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.R874fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	874					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)										ggacaagagtagagagagagac	0.48																																					p.874_874del		.											.	MLL-1255	0			c.2620_2621del						.																																			SO:0001589	frameshift_variant	4297	exon3			AAGAGTAGAGAGA	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.2620_2621delAG	11.37:g.118344502_118344503delAG	ENSP00000374157:p.Arg874fs	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	46	38	NM_001197104	0	0	0	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	CCDS31686.1																																																																																			.		0.48	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		-	118344495	AG	-	118344494	7	5	49	1	0	1	0	1	0	0	0	0	9658	412	15	0	2630	0	MLL	11	118344494	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LB-01A-11D-A29I-10	308	118344494	16662022	183	10207											
MLL	4297	bcgsc.ca	37	chr11	118367048	118367048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacaatagacagtgtgCgttatgtttgacttatggtg	12	4	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr11:118367048C>T	ENST00000389506.5	+	20	5621	c.5621C>T	c.(5620-5622)gCg>gTg	p.A1874V	KMT2A_ENST00000354520.4_Missense_Mutation_p.A1836V|KMT2A_ENST00000534358.1_Missense_Mutation_p.A1877V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1874					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)										AGACAGTGTGCGTTATGTTTG	0.433																																					p.A1877V		.											.	MLL-1255	0			c.C5630T						.						192	174	180					11																	118367048		2200	4296	6496	SO:0001583	missense	4297	exon20			AGTGTGCGTTATG	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.5621C>T	11.37:g.118367048C>T	ENSP00000374157:p.Ala1874Val	Somatic	128	3		WXS	Illumina GAIIx	Phase_I	123	110	NM_001197104	0	0	0	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307219	0.60305	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82255	-1.59;-1.59;-1.57	5.43	5.43	0.79202	.	0.126178	0.53938	D	0.000054	T	0.75102	0.3804	L	0.41824	1.3	0.52501	D	0.999953	P;P	0.47762	0.717;0.9	B;B	0.33960	0.173;0.166	T	0.76225	-0.3037	10	0.32370	T	0.25	.	19.2491	0.93914	0.0:1.0:0.0:0.0	.	1877;1874	E9PQG7;Q03164	.;MLL1_HUMAN	V	1877;1874;1836;784	ENSP00000436786:A1877V;ENSP00000374157:A1874V;ENSP00000346516:A1836V	ENSP00000346516:A1836V	A	+	2	0	MLL	117872258	0.996000	0.38824	0.957000	0.39632	0.753000	0.42808	3.393000	0.52544	2.564000	0.86499	0.305000	0.20034	GCG	.		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118367048	C	T	118367048	3	4	49	1	0	0	0	0	1	0	0	0	9658	768	27	1	5699	1	MLL	11	118367048	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	22554	118367048	16639468	184	10208											
CCDC77	84318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	539878	539878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggtgaatgtgagcagAgtgaatcttcagctttcaaa	11	6	3	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:539878A>C	ENST00000239830.4	+	7	738	c.559A>C	c.(559-561)Agt>Cgt	p.S187R	CCDC77_ENST00000540180.1_Missense_Mutation_p.S155R|CCDC77_ENST00000422000.1_Missense_Mutation_p.S155R|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.S155R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	187						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGTGAGCAGAGTGAATCTTC	0.413																																					p.S187R		.											.	CCDC77-91	0			c.A559C						.						135	130	131					12																	539878		2203	4300	6503	SO:0001583	missense	84318	exon7			GAGCAGAGTGAAT	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.559A>C	12.37:g.539878A>C	ENSP00000239830:p.Ser187Arg	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	169	77	NM_032358	0	0	3	8	5	B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	A	7.892	0.732621	0.15507	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.08	2.92	0.33932	.	0.626869	0.15678	N	0.250048	T	0.17874	0.0429	N	0.19112	0.55	0.20638	N	0.999873	B	0.26195	0.144	B	0.18871	0.023	T	0.15809	-1.0424	10	0.33141	T	0.24	-4.3436	8.8525	0.35208	0.9042:0.0:0.0958:0.0	.	187	Q9BR77	CCD77_HUMAN	R	155;155;155;187;155	ENSP00000440554:S155R;ENSP00000391870:S155R;ENSP00000445873:S155R;ENSP00000239830:S187R;ENSP00000412925:S155R	ENSP00000239830:S187R	S	+	1	0	CCDC77	410139	0.998000	0.40836	0.085000	0.20634	0.245000	0.25701	3.558000	0.53749	0.692000	0.31613	0.392000	0.25879	AGT	.		0.413	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		C	539878	A	C	539878	3	2	49	1	0	0	0	0	1	0	0	0	2858	304	11	5	577	5	CCDC77	12	539878	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10		539878	133312017	185	10209											
EFCAB4B	84766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	3736625	3736625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgctcagccaccgccGgaccgacaggaacgactgct	11	17	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:3736625G>A	ENST00000440314.2	-	17	2382	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGCCACCGCCGGACCGACAGG	0.557																																					p.R637W		.											.	EFCAB4B-92	0			c.C1909T						.						60	65	64					12																	3736625		692	1591	2283	SO:0001583	missense	84766	exon17			ACCGCCGGACCGA																												ENST00000440314.2:c.1909C>T	12.37:g.3736625G>A	ENSP00000409382:p.Arg637Trp	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	198	35	NM_001144958	0	0	0	0	0	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000440314.2	37	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897851	0.72639	.	.	ENSG00000130038	ENST00000440314	T	0.78126	-1.15	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88492	0.3076	9	0.87932	D	0	.	11.7576	0.51884	0.0:0.0:0.8238:0.1762	.	637	Q9BSW2-2	.	W	637	ENSP00000409382:R637W	ENSP00000409382:R637W	R	-	1	2	EFCAB4B	3606886	0.076000	0.21285	0.869000	0.34112	0.984000	0.73092	1.125000	0.31332	1.323000	0.45263	-0.182000	0.12963	CGG	.		0.557	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398640.2			A	3736625	G	A	3736625	3	1	49	1	0	0	0	0	1	0	0	0	4951	1115	39	1	302	1	EFCAB4B	12	3736625	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	3196747	3736625	130115270	186	10210											
VWF	7450	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6219643	6219643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggacttgaaagttgccGctgccatcgatcctggccac	11	13	0	1	rs202062122		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:6219643G>A	ENST00000261405.5	-	5	683	c.429C>T	c.(427-429)agC>agT	p.S143S	VWF_ENST00000572068.1_Silent_p.S180S	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	143	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAAAGTTGCCGCTGCCATCGA	0.512													G|||	1	0.000199681	0	0.0014	5008	,	,		20519	0		0	False		,,,				2504	0				p.S143S		.											.	VWF-163	0			c.C429T						.						127	128	128					12																	6219643		2203	4300	6503	SO:0001819	synonymous_variant	7450	exon5			GTTGCCGCTGCCA		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.429C>T	12.37:g.6219643G>A		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	315	163	NM_000552	0	0	15	15	0	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																			G|0.999;A|0.000		0.512	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6219643	G	A	6219643	2	1	49	1	0	0	0	0	0	0	0	1	17295	1078	38	1		1	VWF	12	6219643	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2483018	6219643	127632252	187	10211											
LPAR5	57121	broad.mit.edu	37	chr12	6729418	6729418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtgacggcggacctttCggattgcgcgagcgccgccc	17	13	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:6729418C>T	ENST00000329858.4	-	2	1753	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.E333K	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCGGACCTTTCGGATTGCGCG	0.711																																					p.E333K	NSCLC(74;891 2312 37538)	.											.	LPAR5-70	0			c.G997A						.						36	28	30					12																	6729418		2195	4296	6491	SO:0001583	missense	57121	exon2			ACCTTTCGGATTG	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.997G>A	12.37:g.6729418C>T	ENSP00000327875:p.Glu333Lys	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	72	3	NM_001142961	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025337	0.54683	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.69040	-0.37;-0.37	4.84	-0.899	0.10547	.	2.040850	0.02863	N	0.130552	T	0.45597	0.1350	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.17722	0.019	T	0.28073	-1.0055	10	0.20046	T	0.44	.	11.0569	0.47925	0.0:0.3776:0.544:0.0784	.	333	Q9H1C0	LPAR5_HUMAN	K	333	ENSP00000327875:E333K;ENSP00000393098:E333K	ENSP00000327875:E333K	E	-	1	0	LPAR5	6599679	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.249000	0.08842	-0.046000	0.13446	-0.479000	0.04858	GAA	.		0.711	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		T	6729418	C	T	6729418	3	4	49	1	0	0	0	0	1	0	0	0	8943	893	31	1	125	1	LPAR5	12	6729418	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	509775	6729418	127122477	188	10212											
ZNF384	171017	hgsc.bcm.edu	37	chr12	6787405	6787405	+	Frame_Shift_Del	DEL	G	G	-													ccgcttcttcttccggccccGgggtggcttaggagccacac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:6787405delG	ENST00000396801.3	-	6	781	c.574delC	c.(574-576)cggfs	p.R192fs	ZNF384_ENST00000319770.3_Frame_Shift_Del_p.R176fs|ZNF384_ENST00000361959.3_Frame_Shift_Del_p.R192fs|ZNF384_ENST00000396795.1_Frame_Shift_Del_p.R192fs|ZNF384_ENST00000355772.4_Frame_Shift_Del_p.R137fs|ZNF384_ENST00000396799.2_Frame_Shift_Del_p.R192fs	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	192					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TTCCGGCCCCGGGGTGGCTTA	0.592			T	"EWSR1, TAF15 "	ALL																																p.R192fs		.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384-1083	0			c.574delC						.						72	74	73					12																	6787405		2203	4300	6503	SO:0001589	frameshift_variant	171017	exon6			GGCCCCGGGGTGG	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.574delC	12.37:g.6787405delG	ENSP00000380019:p.Arg192fs	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	189	23	NM_133476	0	0	0	0	0	O15407|Q7Z722|Q8N938	Frame_Shift_Del	DEL	ENST00000396801.3	37	CCDS44817.1																																																																																			.		0.592	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			-	6787405	G	-	6787405	7	5	49	1	0	1	0	1	0	0	0	0	17923	1115	39	0	1183	0	ZNF384	12	6787405	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	57987	6787405	127064490	189	10213											
ATN1	1822	ucsc.edu	37	chr12	7045912	7045912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	13	14	0	0	rs144280633	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																					p.Q494Q		.											.	ATN1-139	0			c.G1482A						.						39	49	46					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	202	29	NM_001007026	4	1	3220	3285	60	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			G|0.972;A|0.028		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045912	G	A	7045912	2	1	49	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045912	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	258507	7045912	126805983	190	10214											
PEX5	5830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7356126	7356126	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgactatgatgacctTacgtcagctacctatgataa	6	10	2	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:7356126T>G	ENST00000455147.2	+	11	1525	c.945T>G	c.(943-945)ctT>ctG	p.L315L	PEX5_ENST00000412720.2_Silent_p.L336L|PEX5_ENST00000420616.2_Silent_p.L315L|PEX5_ENST00000266564.3_Silent_p.L307L|PEX5_ENST00000266563.5_Silent_p.L278L|PEX5_ENST00000434354.2_Silent_p.L330L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	315					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ATGATGACCTTACGTCAGCTA	0.443																																					p.L330L		.											.	PEX5-91	0			c.T990G						.						95	84	88					12																	7356126		2203	4300	6503	SO:0001819	synonymous_variant	5830	exon10			TGACCTTACGTCA	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.945T>G	12.37:g.7356126T>G		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	245	138	NM_001131023	0	0	8	12	4	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																			.		0.443	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		G	7356126	T	G	7356126	2	3	49	1	0	0	0	0	0	0	0	1	11787	1741	61	5		5	PEX5	12	7356126	Silent	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	310214	7356126	126495769	191	10215											
MAGOHB	55110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	10766108	10766108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctacgtagtagcgcagGtagaaatcgctagccacagc	11	12	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:10766108G>A	ENST00000320756.2	-	1	114	c.24C>T	c.(22-24)taC>taT	p.Y8Y	MAGOHB_ENST00000539554.1_Intron|MAGOHB_ENST00000381881.2_Silent_p.Y8Y	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	8					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						AGTAGCGCAGGTAGAAATCGC	0.607																																					p.Y8Y		.											.	MAGOHB-153	0			c.C24T						.						92	87	88					12																	10766108		2203	4300	6503	SO:0001819	synonymous_variant	55110	exon1			GCGCAGGTAGAAA		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.24C>T	12.37:g.10766108G>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	260	107	NM_018048	0	0	13	19	6		Silent	SNP	ENST00000320756.2	37	CCDS8628.1																																																																																			.		0.607	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048		A	10766108	G	A	10766108	2	1	49	1	0	0	0	0	0	0	0	1	9233	1256	44	3		3	MAGOHB	12	10766108	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	3409982	10766108	123085787	192	10216											
PRB3	5544	hgsc.bcm.edu	37	chr12	11420332	11420458	+	Frame_Shift_Del	DEL	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	-													tccttgtggctttcctggatGagggtgggggaccttgaggt					rs370093235|rs528598166|rs191804141|rs369321112|rs374590900|rs200549053|rs11054202|rs201237059|rs11054201|rs12818734|rs28435564|rs28605625|rs3842295|rs71057716|rs148140654|rs377511579|rs12813039|rs113187893|rs369202988|rs12813034	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:11420332_11420458delGAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	ENST00000279573.7	-	3	860_986	c.725_851delGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCTTCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCCTC	c.(724-852)cgtccaggaaagccagaaggaccacccccacaaggaggaaaccagtcccaaggtcccccacctcgtccaggaaagccagaaggaccaccttcacaaggaggcaacaaacctcaaggtcccccaccctcafs	p.RPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPPS242fs	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Splice_Site_p.GPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPP202fs|PRB3_ENST00000538488.1_Splice_Site_p.GPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPP202fs			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.R221S(4)|p.G232E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGATGAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGG	0.602																																					.		.											.	PRB3-1	6	Substitution - Missense(6)	lung(6)	.						.																																			SO:0001589	frameshift_variant	5544	.			CTGGATGAGGGTG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725_851delGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCTTCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCCTC	12.37:g.11420332_11420458delGAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	ENSP00000279573:p.Arg242fs	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	87	0	.	0	0	0	0	0	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Splice_Site	DEL	ENST00000279573.7	37																																																																																				.		0.602	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		-	11420458	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	-	11420332	7	5	49	1	0	1	0	1	0	0	0	0	12486	1304	45	0	209	0	PRB3	12	11420332	Frame_Shift_Del	DEL	GAGGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGAC	TCGA-OR-A5LB-01A-11D-A29I-10	654224	11420332	122431563	193	10217											
C12orf36	283422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	13526224	13526224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctcaattaaagccgtctGtccactcttcagcctctgaa	5	13	5	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:13526224G>T	ENST00000318426.2	-	3	548	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.Q111K					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		AAAGCCGTCTGTCCACTCTTC	0.478																																					.		.											.	C12orf36-90	0			.						.						227	215	219					12																	13526224		2203	4300	6503	SO:0001583	missense	283422	.			CCGTCTGTCCACT	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.331C>A	12.37:g.13526224G>T	ENSP00000443007:p.Gln111Lys	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	156	65	.	0	0	0	0	0		RNA	SNP	ENST00000318426.2	37		.	.	.	.	.	.	.	.	.	.	G	7.078	0.569653	0.13560	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.26373	1.74;1.74	4.05	-0.623	0.11556	.	.	.	.	.	T	0.15522	0.0374	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.30090	-0.9990	8	0.87932	D	0	.	1.9979	0.03460	0.1573:0.2123:0.4672:0.1632	.	111	Q495D7	CL036_HUMAN	K	111	ENSP00000443007:Q111K;ENSP00000443346:Q111K	ENSP00000443007:Q111K	Q	-	1	0	C12orf36	13417491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.074000	0.03427	-0.096000	0.12329	-0.137000	0.14449	CAG	.		0.478	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		T	13526224	G	T	13526224	3	4	49	1	0	0	0	0	1	0	0	0	1688	1386	48	3	89	3	C12orf36	12	13526224	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2105892	13526224	120325671	194	10218											
KIF21A	55605	broad.mit.edu;bcgsc.ca	37	chr12	39751149	39751149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctttaattcttacacGcaggttattattttcagtct	6	8	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:39751149G>A	ENST00000361418.5	-	9	1321	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	KIF21A_ENST00000395670.3_Missense_Mutation_p.R436C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R436C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R436C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R436C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	436					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)				ATTCTTACACGCAGGTTATTA	0.418																																					p.R436C		.											.	KIF21A-97	0			c.C1306T						.						158	146	150					12																	39751149		2203	4300	6503	SO:0001583	missense	55605	exon9			TTACACGCAGGTT	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.1306C>T	12.37:g.39751149G>A	ENSP00000354878:p.Arg436Cys	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	234	7	NM_001173463	0	0	1	1	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393480	0.83011	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.83591	-0.52;-0.52;-0.52;-0.52;-0.52;-1.74	4.55	4.55	0.56014	.	0.000000	0.52532	D	0.000067	D	0.91399	0.7286	M	0.81497	2.545	0.80722	D	1	P;D;D;D;D	0.89917	0.87;1.0;1.0;1.0;1.0	B;D;D;D;D	0.87578	0.354;0.988;0.993;0.998;0.988	D	0.92879	0.6321	10	0.87932	D	0	.	17.6979	0.88286	0.0:0.0:1.0:0.0	.	436;436;436;436;436	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	C	436;436;436;436;436;436;259	ENSP00000354851:R436C;ENSP00000379029:R436C;ENSP00000445606:R436C;ENSP00000354878:R436C;ENSP00000438075:R436C;ENSP00000449700:R259C	ENSP00000344501:R436C	R	-	1	0	KIF21A	38037416	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.979000	0.70508	2.236000	0.73375	0.655000	0.94253	CGT	.		0.418	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39751149	G	A	39751149	3	1	49	1	0	0	0	0	1	0	0	0	8315	1087	38	1	3838	1	KIF21A	12	39751149	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	26224925	39751149	94100746	195	10219											
SLC2A13	114134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	40422218	40422218	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggccttctgagtctgTcctttctgaataagccatcg	9	12	3	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:40422218T>A	ENST00000280871.4	-	3	860	c.810A>T	c.(808-810)ggA>ggT	p.G270G	SLC2A13_ENST00000380858.1_Silent_p.G270G	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	270					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCTGAGTCTGTCCTTTCTGAA	0.433										HNSCC(50;0.14)																											p.G270G		.											.	SLC2A13-515	0			c.A810T						.						102	106	105					12																	40422218		2203	4300	6503	SO:0001819	synonymous_variant	114134	exon3			AGTCTGTCCTTTC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.810A>T	12.37:g.40422218T>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	62	9	NM_052885	0	0	4	4	0	Q17S07	Silent	SNP	ENST00000280871.4	37	CCDS8736.2																																																																																			.		0.433	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			A	40422218	T	A	40422218	2	1	49	1	0	0	0	0	0	0	0	1	14587	1654	58	5		5	SLC2A13	12	40422218	Silent	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	671069	40422218	93429677	196	10220											
CACNB3	784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49218962	49218962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcggaacatgttccccCatatgacgtggtgccctcca	11	14	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:49218962C>T	ENST00000301050.2	+	7	708	c.509C>T	c.(508-510)cCa>cTa	p.P170L	CACNB3_ENST00000536187.2_Missense_Mutation_p.P169L|CACNB3_ENST00000547230.1_Missense_Mutation_p.P129L|CACNB3_ENST00000540990.1_Missense_Mutation_p.P157L|CACNB3_ENST00000547392.1_Intron	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	170					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGTTCCCCCATATGACGTG	0.577																																					p.P170L		.											.	CACNB3-90	0			c.C509T						.						76	57	64					12																	49218962		2203	4300	6503	SO:0001583	missense	784	exon7			TTCCCCCATATGA		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.509C>T	12.37:g.49218962C>T	ENSP00000301050:p.Pro170Leu	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	333	59	NM_000725	0	0	4	6	2	A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215279	0.95104	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000301050;ENST00000547230	D;D;D;T	0.83837	-1.77;-1.77;-1.77;0.99	5.74	5.74	0.90152	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.91635	0.714;0.999;0.998;0.998	D	0.93269	0.6650	10	0.87932	D	0	-15.2226	18.6855	0.91562	0.0:1.0:0.0:0.0	.	169;157;170;157	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	L	157;169;170;129	ENSP00000445495:P157L;ENSP00000444160:P169L;ENSP00000301050:P170L;ENSP00000448304:P129L	ENSP00000301050:P170L	P	+	2	0	CACNB3	47505229	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	7.736000	0.84948	2.700000	0.92200	0.655000	0.94253	CCA	.		0.577	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			T	49218962	C	T	49218962	3	4	49	1	0	0	0	0	1	0	0	0	2561	594	21	3	535	3	CACNB3	12	49218962	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	8796744	49218962	84632933	197	10221											
LETMD1	25875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	51453177	51453177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgcacaacgtggTcctgctctccaccaactacc	6	17	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:51453177T>C	ENST00000262055.4	+	9	1085	c.1046T>C	c.(1045-1047)gTc>gCc	p.V349A	LETMD1_ENST00000552739.1_Missense_Mutation_p.V232A|LETMD1_ENST00000418425.2_Missense_Mutation_p.V362A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V225A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V293A|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	349						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CACAACGTGGTCCTGCTCTCC	0.488																																					p.V362A		.											.	LETMD1-90	0			c.T1085C						.						254	182	206					12																	51453177		2203	4300	6503	SO:0001583	missense	25875	exon9			ACGTGGTCCTGCT	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.1046T>C	12.37:g.51453177T>C	ENSP00000262055:p.Val349Ala	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	406	187	NM_001243689	0	0	32	59	27	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.416913|4.416913	0.83449|0.83449	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256;ENST00000551931|ENST00000550929;ENST00000262055;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739;ENST00000553043	.|T;T;T;T	.|0.54675	.|0.76;0.7;0.63;0.56	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.59891|0.59891	0.2227|0.2227	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.982;1.0;0.999	.|D;D;D;D	.|0.83275	.|0.991;0.968;0.996;0.991	T|T	0.57825|0.57825	-0.7744|-0.7744	5|10	.|0.34782	.|T	.|0.22	-2.1151|-2.1151	12.9156|12.9156	0.58205|0.58205	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|362;225;232;349	.|B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	P|A	99;133|293;349;104;362;225;232;85	.|ENSP00000450163:V293A;ENSP00000262055:V349A;ENSP00000389903:V362A;ENSP00000447419:V225A	.|ENSP00000262055:V349A	S|V	+|+	1|2	0|0	LETMD1|LETMD1	49739444|49739444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.483000|3.483000	0.53194|0.53194	1.940000|1.940000	0.56252|0.56252	0.528000|0.528000	0.53228|0.53228	TCC|GTC	.		0.488	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		C	51453177	T	C	51453177	3	2	49	1	0	0	0	0	1	0	0	0	8764	1667	58	4	1080	4	LETMD1	12	51453177	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	2234215	51453177	82398718	198	10222											
HOXC4	3221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54448765	54448765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaggatcgagatcgccCactcgctgtgcctctctgag	13	12	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:54448765C>A	ENST00000430889.2	+	2	617	c.571C>A	c.(571-573)Cac>Aac	p.H191N	HOXC4_ENST00000303406.4_Missense_Mutation_p.H191N|HOXC4_ENST00000609810.1_Missense_Mutation_p.H191N	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	191					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)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CGAGATCGCCCACTCGCTGTG	0.532																																					p.H191N		.											.	HOXC4-91	0			c.C571A						.						49	45	46					12																	54448765		2203	4300	6503	SO:0001583	missense	3221	exon4			ATCGCCCACTCGC		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.571C>A	12.37:g.54448765C>A	ENSP00000399808:p.His191Asn	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	430	196	NM_014620	0	0	5	8	3		Missense_Mutation	SNP	ENST00000430889.2	37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578434	0.65878	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.95885	-3.84;-3.84	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	N	0.05177	-0.1	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95593	0.8656	10	0.87932	D	0	.	15.0798	0.72106	0.0:1.0:0.0:0.0	.	191	P09017	HXC4_HUMAN	N	191	ENSP00000305973:H191N;ENSP00000399808:H191N	ENSP00000305973:H191N	H	+	1	0	HOXC4	52735032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.568000	0.82369	2.139000	0.66308	0.448000	0.29417	CAC	.		0.532	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			A	54448765	C	A	54448765	3	1	49	1	0	0	0	0	1	0	0	0	7340	594	21	3	577	3	HOXC4	12	54448765	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2995588	54448765	79403130	199	10223											
LRP1	4035	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	57579562	57579562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacatgaagaacgtcatcGccctggcctttgactaccgg	10	13	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:57579562G>A	ENST00000243077.3	+	41	7178	c.6712G>A	c.(6712-6714)Gcc>Acc	p.A2238T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2238					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)	GAACGTCATCGCCCTGGCCTT	0.577																																					p.A2238T		.											.	LRP1-596	0			c.G6712A						.						127	111	116					12																	57579562		2203	4300	6503	SO:0001583	missense	4035	exon41			GTCATCGCCCTGG	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.6712G>A	12.37:g.57579562G>A	ENSP00000243077:p.Ala2238Thr	Somatic	119	2		WXS	Illumina GAIIx	Phase_I	243	106	NM_002332	0	0	2	2	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336135	0.95758	.	.	ENSG00000123384	ENST00000243077	D	0.91843	-2.92	5.03	5.03	0.67393	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.92355	0.7574	M	0.79123	2.44	0.80722	D	1	D	0.54964	0.969	B	0.43251	0.413	D	0.93517	0.6858	10	0.62326	D	0.03	.	17.1412	0.86754	0.0:0.0:1.0:0.0	.	2238	Q07954	LRP1_HUMAN	T	2238	ENSP00000243077:A2238T	ENSP00000243077:A2238T	A	+	1	0	LRP1	55865829	1.000000	0.71417	0.430000	0.26722	0.920000	0.55202	9.869000	0.99810	2.340000	0.79590	0.491000	0.48974	GCC	.		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57579562	G	A	57579562	3	1	49	1	0	0	0	0	1	0	0	0	8986	1087	38	1	6874	1	LRP1	12	57579562	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	3130797	57579562	76272333	200	10224											
CCDC53	51019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	102437938	102437938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgtgacactggtgacaTttaaaggagatacttcaact	8	7	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:102437938T>C	ENST00000240079.6	-	4	430	c.269A>G	c.(268-270)aAt>aGt	p.N90S	CCDC53_ENST00000545679.1_Missense_Mutation_p.N90S|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	90						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTGGTGACATTTAAAGGAGA	0.398																																					p.N90S		.											.	.	0			c.A269G						.						91	83	86					12																	102437938		1906	4153	6059	SO:0001583	missense	51019	exon4			GTGACATTTAAAG	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.269A>G	12.37:g.102437938T>C	ENSP00000240079:p.Asn90Ser	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	224	96	NM_016053	0	0	65	105	40	B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.569167	0.00895	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	4.72	-4.53	0.03462	.	0.726167	0.14000	N	0.348190	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.003;0.005	T	0.37957	-0.9683	9	0.02654	T	1	-18.2592	11.803	0.52139	0.0:0.3613:0.0:0.6387	.	90;90	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	S	90;90;40	.	ENSP00000240079:N90S	N	-	2	0	CCDC53	100962068	0.069000	0.21087	0.061000	0.19648	0.411000	0.31082	-0.181000	0.09740	-0.678000	0.05224	-0.313000	0.08912	AAT	.		0.398	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		C	102437938	T	C	102437938	3	2	49	1	0	0	0	0	1	0	0	0	2830	1493	52	4	262	4	CCDC53	12	102437938	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	44858376	102437938	31413957	201	10225											
ALDH1L2	160428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	105446693	105446693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatttttaccatgatttcaTtgacctcctttgaaatctga	5	9	2	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:105446693T>A	ENST00000258494.9	-	11	1444	c.1304A>T	c.(1303-1305)aAt>aTt	p.N435I	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.N435I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	435					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATGATTTCATTGACCTCCTT	0.363											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N435I		.											.	ALDH1L2-91	0			c.A1304T						.						149	118	129					12																	105446693		2203	4300	6503	SO:0001583	missense	160428	exon11			ATTTCATTGACCT	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1304A>T	12.37:g.105446693T>A	ENSP00000258494:p.Asn435Ile	Somatic	108	0	1389	WXS	Illumina GAIIx	Phase_I	196	68	NM_001034173	0	0	0	0	0	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424472	0.83667	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.15017	2.46;3.02	5.76	5.76	0.90799	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.85299	2.745	0.80722	D	1	P	0.39520	0.676	B	0.38225	0.268	T	0.20338	-1.0278	10	0.87932	D	0	.	16.087	0.81065	0.0:0.0:0.0:1.0	.	435	Q3SY69	AL1L2_HUMAN	I	435	ENSP00000258494:N435I;ENSP00000389608:N435I	ENSP00000258494:N435I	N	-	2	0	ALDH1L2	103970823	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	7.736000	0.84948	2.202000	0.70862	0.533000	0.62120	AAT	.		0.363	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		A	105446693	T	A	105446693	3	1	49	1	0	0	0	0	1	0	0	0	495	1493	52	5	1519	5	ALDH1L2	12	105446693	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	3008755	105446693	28405202	202	10226											
CUX2	23316	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	111760254	111760254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcacagggcagcgtgagCgacatgctgtcccggccgaa	14	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:111760254C>T	ENST00000261726.6	+	18	2950	c.2796C>T	c.(2794-2796)agC>agT	p.S932S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	932					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						GCAGCGTGAGCGACATGCTGT	0.697																																					p.S932S		.											.	CUX2-140	0			c.C2796T						.						11	13	12					12																	111760254		2184	4272	6456	SO:0001819	synonymous_variant	23316	exon18			CGTGAGCGACATG	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.2796C>T	12.37:g.111760254C>T		Somatic	58	1		WXS	Illumina GAIIx	Phase_I	318	175	NM_015267	0	0	0	0	0	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																			.		0.697	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111760254	C	T	111760254	2	4	49	1	0	0	0	0	0	0	0	1	4074	767	27	1		1	CUX2	12	111760254	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	6313561	111760254	22091641	203	10227											
MPHOSPH9	10198	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	123645709	123645710	+	Frame_Shift_Ins	INS	-	-	A													ttttcttttgtaagttcatcINSaaaaaatcgttctgtttcag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr12:123645709_123645710insA	ENST00000606320.1	-	22	3560_3561	c.3354_3355insT	c.(3352-3357)tttgatfs	p.D1119fs	MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.D1089fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.D967fs|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.D967fs			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1119						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAAGTTCATCAAAAAATCGTT	0.342																																					p.D967_E968delinsX		.											.	MPHOSPH9-514	0			c.2899_2900insT						.																																			SO:0001589	frameshift_variant	10198	exon18			GTTCATCAAAAAA	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3355dupT	12.37:g.123645715_123645715dupA	ENSP00000475489:p.Asp1119fs	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	67	32	NM_022782	0	0	0	0	0	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Nonsense_Mutation	INS	ENST00000606320.1	37																																																																																				.		0.342	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			A	123645710	-	A	123645709	7	5	49	1	0	1	1	0	0	0	0	0	9766	826	29	0	208	0	MPHOSPH9	12	123645709	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	11885455	123645709	10206186	204	10228											
NUFIP1	26747	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	45563471	45563471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaacatccagctgtccCgcggcggggcagtgtcgctc	13	16	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr13:45563471C>T	ENST00000379161.4	-	1	147	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	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	34	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)		CCAGCTGTCCCGCGGCGGGGC	0.647																																					p.R34Q		.											.	NUFIP1-90	0			c.G101A						.						15	18	17					13																	45563471		2189	4281	6470	SO:0001583	missense	26747	exon1			CTGTCCCGCGGCG	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.101G>A	13.37:g.45563471C>T	ENSP00000368459:p.Arg34Gln	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	128	111	NM_012345	0	0	0	1	1	Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838871	0.32513	.	.	ENSG00000083635	ENST00000379161	T	0.42900	0.96	4.82	-4.06	0.03986	.	1.522330	0.04251	N	0.338673	T	0.27454	0.0674	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21793	-1.0235	10	0.26408	T	0.33	5.7253	12.4829	0.55854	0.0:0.624:0.2238:0.1522	.	34	Q9UHK0	NUFP1_HUMAN	Q	34	ENSP00000368459:R34Q	ENSP00000368459:R34Q	R	-	2	0	NUFIP1	44461471	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-1.403000	0.02053	-0.344000	0.07964	CGG	.		0.647	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		T	45563471	C	T	45563471	3	4	49	1	0	0	0	0	1	0	0	0	10787	652	23	1	1426	1	NUFIP1	13	45563471	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		45563471	69606407	205	10229											
ATP7B	540	hgsc.bcm.edu;bcgsc.ca	37	chr13	52548260	52548261	+	Frame_Shift_Ins	INS	-	-	AA													gatgcacaggtcatgccggcINSaatggcaatcagagtggtac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr13:52548260_52548261insAA	ENST00000242839.4	-	2	1251_1252	c.1095_1096insTT	c.(1093-1098)attgccfs	p.A366fs	ATP7B_ENST00000542656.1_Frame_Shift_Ins_p.A334fs|ATP7B_ENST00000448424.2_Frame_Shift_Ins_p.A366fs|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A366fs|ATP7B_ENST00000400370.3_Frame_Shift_Ins_p.A366fs|ATP7B_ENST00000344297.5_Frame_Shift_Ins_p.A366fs|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	366	HMA 4. {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)	GTCATGCCGGCAATGGCAATCA	0.554									Wilson disease																												p.A366fs		.											.	ATP7B-92	0			c.1096_1097insTT						.																																			SO:0001589	frameshift_variant	540	exon2	Familial Cancer Database		TGCCGGCAATGGC	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.1094_1095dupTT	13.37:g.52548261_52548262dupAA	ENSP00000242839:p.Ala366fs	Somatic	136	1		WXS	Illumina GAIIx	Phase_I	131	116	NM_000053	0	0	0	0	0	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	CCDS41892.1																																																																																			.		0.554	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		AA	52548261	-	AA	52548260	7	5	49	1	0	1	1	0	0	0	0	0	1192	710	25	0	3381	0	ATP7B	13	52548260	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	6984789	52548260	62621618	206	10230											
SLITRK1	114798	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	84454943	84454943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccactcggccgatcagggCattcttgggaatgttttcca	11	11	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr13:84454943C>A	ENST00000377084.2	-	1	1585	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	234	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCGATCAGGGCATTCTTGGGA	0.522																																					p.A234S		.											.	SLITRK1-94	0			c.G700T						.						59	59	59					13																	84454943		2203	4300	6503	SO:0001583	missense	114798	exon1			TCAGGGCATTCTT	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.700G>T	13.37:g.84454943C>A	ENSP00000366288:p.Ala234Ser	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	107	86	NM_052910	0	0	0	0	0	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558513	0.27827	.	.	ENSG00000178235	ENST00000377084	T	0.52526	0.66	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.32530	0.975	0.58432	D	0.999997	B	0.14438	0.01	B	0.22601	0.04	T	0.16070	-1.0415	10	0.27785	T	0.31	-10.4089	16.4091	0.83701	0.0:1.0:0.0:0.0	.	234	Q96PX8	SLIK1_HUMAN	S	234	ENSP00000366288:A234S	ENSP00000366288:A234S	A	-	1	0	SLITRK1	83352944	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.926000	0.70070	2.461000	0.83175	0.561000	0.74099	GCC	.		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454943	C	A	84454943	3	1	49	1	0	0	0	0	1	0	0	0	14787	710	25	3	1394	3	SLITRK1	13	84454943	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	31906683	84454943	30714935	207	10231											
SLC15A1	6564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	99339879	99339879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgacagagaagaccacttCgccacaggtgagaagaaaat	11	9	0	5			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr13:99339879C>T	ENST00000376503.5	-	21	1838	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	595					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGACCACTTCGCCACAGGTG	0.448																																					p.E595K		.											.	SLC15A1-91	0			c.G1783A						.						133	122	125					13																	99339879		2203	4300	6503	SO:0001583	missense	6564	exon21			CCACTTCGCCACA	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1783G>A	13.37:g.99339879C>T	ENSP00000365686:p.Glu595Lys	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	118	19	NM_005073	0	0	0	0	0	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569532	0.96540	.	.	ENSG00000088386	ENST00000376503	T	0.52754	0.65	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81848	-0.0744	10	0.87932	D	0	-26.721	18.354	0.90351	0.0:1.0:0.0:0.0	.	595	P46059	S15A1_HUMAN	K	595	ENSP00000365686:E595K	ENSP00000365686:E595K	E	-	1	0	SLC15A1	98137880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.218000	0.77991	2.624000	0.88883	0.655000	0.94253	GAA	.		0.448	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		T	99339879	C	T	99339879	3	4	49	1	0	0	0	0	1	0	0	0	14443	893	31	1	355	1	SLC15A1	13	99339879	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	14884936	99339879	15829999	208	10232											
SLC10A2	6555	broad.mit.edu;bcgsc.ca	37	chr13	103718400	103718400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaagccaacacaaatgCcccacggccgctttatgtgc	10	13	0	1	rs201168803		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr13:103718400C>T	ENST00000245312.3	-	1	796	c.200G>A	c.(199-201)gGc>gAc	p.G67D		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	67					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AACACAAATGCCCCACGGCCG	0.532																																					p.G67D		.											.	SLC10A2-94	0			c.G200A						.						132	130	131					13																	103718400		2203	4300	6503	SO:0001583	missense	6555	exon1			CAAATGCCCCACG	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.200G>A	13.37:g.103718400C>T	ENSP00000245312:p.Gly67Asp	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	158	15	NM_000452	0	0	0	0	0	A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319853	0.81469	.	.	ENSG00000125255	ENST00000245312	T	0.11604	2.76	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.54908	1.71	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.00423	-1.1748	10	0.33940	T	0.23	-10.3771	19.1895	0.93658	0.0:1.0:0.0:0.0	.	67	Q12908	NTCP2_HUMAN	D	67	ENSP00000245312:G67D	ENSP00000245312:G67D	G	-	2	0	SLC10A2	102516401	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.980000	0.70516	2.528000	0.85240	0.655000	0.94253	GGC	.		0.532	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			T	103718400	C	T	103718400	3	4	49	1	0	0	0	0	1	0	0	0	14419	739	26	3	870	3	SLC10A2	13	103718400	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	4378521	103718400	11451478	209	10233											
RPGRIP1	57096	bcgsc.ca	37	chr14	21793413	21793413	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggagaagagttcggGgttctagagtactggatgag	18	4	1	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:21793413G>T	ENST00000400017.2	+	15	2238	c.2238G>T	c.(2236-2238)ggG>ggT	p.G746G	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000206660.6_Silent_p.G746G|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Silent_p.G105G|RPGRIP1_ENST00000557771.1_Silent_p.G708G|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	746			G -> E (in LCA6). {ECO:0000269|PubMed:11528500}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGAGTTCGGGGTTCTAGAGT	0.498																																					p.G746G		.											.	RPGRIP1-140	0			c.G2238T						.						49	48	48					14																	21793413		1878	4111	5989	SO:0001819	synonymous_variant	57096	exon15			GTTCGGGGTTCTA	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2238G>T	14.37:g.21793413G>T		Somatic	128	4		WXS	Illumina GAIIx	Phase_I	261	120	NM_020366	0	0	0	0	0	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																			.		0.498	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21793413	G	T	21793413	2	4	49	1	0	0	0	0	0	0	0	1	13594	1219	43	3		3	RPGRIP1	14	21793413	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		21793413	85556127	210	10234											
SALL2	6297	broad.mit.edu;bcgsc.ca	37	chr14	21992636	21992636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgccacgggtggtaaaaCggtttccacagacattgcac	12	10	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:21992636C>T	ENST00000327430.3	-	2	1520	c.1226G>A	c.(1225-1227)cGt>cAt	p.R409H	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R272H	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R409H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTGGTAAAACGGTTTCCACA	0.537																																					p.R409H		.											.	SALL2-92	1	Substitution - Missense(1)	large_intestine(1)	c.G1226A						.						124	103	110					14																	21992636		2203	4300	6503	SO:0001583	missense	6297	exon2			GTAAAACGGTTTC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1226G>A	14.37:g.21992636C>T	ENSP00000333537:p.Arg409His	Somatic	290	1		WXS	Illumina GAIIx	Phase_I	548	12	NM_005407	0	0	8	8	0	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160985|4.160985	0.78226|0.78226	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.53640|.	0.61;0.61|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.38111|.	N|.	0.001809|.	T|T	0.55893|0.55893	0.1949|0.1949	L|L	0.33093|0.33093	0.98|0.98	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.51896|0.51896	-0.8647|-0.8647	10|5	0.87932|.	D|.	0|.	-36.6116|-36.6116	15.0135|15.0135	0.71567|0.71567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272;407;409|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	H|I	409;272;409|268	ENSP00000333537:R409H;ENSP00000396773:R272H|.	ENSP00000333537:R409H|.	R|V	-|-	2|1	0|0	SALL2|SALL2	21062476|21062476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.651000|7.651000	0.83577|0.83577	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	CGT|GTT	.		0.537	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21992636	C	T	21992636	3	4	49	1	0	0	0	0	1	0	0	0	13856	536	19	1	1801	1	SALL2	14	21992636	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	199223	21992636	85356904	211	10235											
REM2	161253	broad.mit.edu;bcgsc.ca	37	chr14	23355347	23355347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttccagagaccctacttCggctccgggctgggaggccg	14	13	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:23355347C>T	ENST00000267396.4	+	4	757	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	REM2_ENST00000536884.1_Missense_Mutation_p.S187L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	212					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACCCTACTTCGGCTCCGGGC	0.612																																					p.R212W		.											.	REM2-704	0			c.C634T						.						42	48	46					14																	23355347		1929	4127	6056	SO:0001583	missense	161253	exon4			CTACTTCGGCTCC		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.634C>T	14.37:g.23355347C>T	ENSP00000267396:p.Arg212Trp	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	281	13	NM_173527	0	0	0	0	0	B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	CCDS45082.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.04|14.04	2.416874|2.416874	0.42918|0.42918	.|.	.|.	ENSG00000139890|ENSG00000139890	ENST00000267396|ENST00000536884	T|T	0.77358|0.36699	-1.09|1.24	5.48|5.48	0.199|0.199	0.15175|0.15175	.|.	0.224273|.	0.39985|.	N|.	0.001202|.	T|T	0.29028|0.29028	0.0721|0.0721	L|L	0.51422|0.51422	1.61|1.61	0.22213|0.22213	N|N	0.999287|0.999287	B|B	0.12013|0.13594	0.005|0.008	B|B	0.09377|0.08055	0.004|0.003	T|T	0.29852|0.29852	-0.9998|-0.9998	10|9	0.72032|0.87932	D|D	0.01|0	.|.	5.4466|5.4466	0.16539|0.16539	0.3641:0.4516:0.1176:0.0667|0.3641:0.4516:0.1176:0.0667	.|.	212|187	Q8IYK8|B7Z5P1	REM2_HUMAN|.	W|L	212|187	ENSP00000267396:R212W|ENSP00000442774:S187L	ENSP00000267396:R212W|ENSP00000442774:S187L	R|S	+|+	1|2	2|0	REM2|REM2	22425187|22425187	0.986000|0.986000	0.35501|0.35501	0.791000|0.791000	0.31998|0.31998	0.650000|0.650000	0.38633|0.38633	1.139000|1.139000	0.31504|0.31504	-0.157000|-0.157000	0.11059|0.11059	-1.452000|-1.452000	0.01034|0.01034	CGG|TCG	.		0.612	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		T	23355347	C	T	23355347	3	4	49	1	0	0	0	0	1	0	0	0	13268	875	31	1	648	1	REM2	14	23355347	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1362711	23355347	83994193	212	10236											
ACIN1	22985	bcgsc.ca	37	chr14	23549785	23549785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggttttactctaggTatctcttccccttcttcctt	4	14	4	0	rs3811182	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:23549785T>C	ENST00000262710.1	-	6	1260	c.933A>G	c.(931-933)atA>atG	p.I311M	ACIN1_ENST00000605057.1_Missense_Mutation_p.I253M|ACIN1_ENST00000457657.1_Missense_Mutation_p.I271M|ACIN1_ENST00000555053.1_Missense_Mutation_p.I311M|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	311	Glu-rich.		I -> M (in dbSNP:rs3811182).		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)		TTACTCTAGGTATCTCTTCCC	0.458													C|||	2508	0.500799	0.6914	0.3689	5008	,	,		20323	0.4554		0.3777	False		,,,				2504	0.5102				p.I311M		.											.	ACIN1-156	0			c.A933G						.	C	MET/ILE,MET/ILE,MET/ILE	2869,1537	486.4+/-360.6	935,999,269	245	214	224		933,813,933	0.1	0	14	dbSNP_107	224	3543,5057	630.5+/-398.4	721,2101,1478	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	10,10,10	1656,3100,1747	CC,CT,TT		41.1977,34.8842,49.3003	benign,benign,benign	311/1329,271/1302,311/1342	23549785	6412,6594	2203	4300	6503	SO:0001583	missense	22985	exon6			TCTAGGTATCTCT	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.933A>G	14.37:g.23549785T>C	ENSP00000262710:p.Ile311Met	Somatic	122	2		WXS	Illumina GAIIx	Phase_I	249	7	NM_001164814	0	0	20	20	0	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	989	0.45283882783882784	320	0.6504065040650406	136	0.3756906077348066	259	0.4527972027972028	274	0.36147757255936674	C	0.001	-3.379418	0.00015	0.651158	0.411977	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.16457	2.34;2.34;2.34	4.16	0.113	0.14631	.	0.806596	0.10782	N	0.634812	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25433	-1.0132	9	0.32370	T	0.25	3.4746	3.2091	0.06676	0.2982:0.3234:0.0:0.3784	rs3811182;rs57721090;rs3811182	311;311	G3V3M7;Q9UKV3	.;ACINU_HUMAN	M	311;271;311	ENSP00000262710:I311M;ENSP00000405677:I271M;ENSP00000451328:I311M	ENSP00000262710:I311M	I	-	3	3	ACIN1	22619625	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-3.042000	0.00632	-0.194000	0.10399	-2.211000	0.00300	ATA	T|0.511;C|0.489		0.458	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		C	23549785	T	C	23549785	3	2	49	1	0	0	0	0	1	0	0	0	142	1628	57	4	3295	4	ACIN1	14	23549785	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	194438	23549785	83799755	213	10237											
EFS	10278	broad.mit.edu	37	chr14	23829997	23829997	+	Frame_Shift_Del	DEL	G	G	-													tcggcggaaggacagctcctGgggggactcagcggtgttgt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:23829997delG	ENST00000216733.3	-	2	671	c.64delC	c.(64-66)cagfs	p.Q22fs	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	22	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GACAGCTCCTGGGGGGACTCA	0.657																																					p.Q22fs		.											.	EFS-153	0			c.64delC						.						28	28	28					14																	23829997		2203	4298	6501	SO:0001589	frameshift_variant	10278	exon2			GCTCCTGGGGGGA	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.64delC	14.37:g.23829997delG	ENSP00000216733:p.Gln22fs	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	213	9	NM_005864	0	0	0	0	0	B2RAJ7|B4DJ56|E9PGU2|O43282	Frame_Shift_Del	DEL	ENST00000216733.3	37	CCDS9595.1																																																																																			.		0.657	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			-	23829997	G	-	23829997	7	5	49	1	0	1	0	1	0	0	0	0	4973	1357	47	0	1641	0	EFS	14	23829997	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	280212	23829997	83519543	214	10238											
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	23859651	23859651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctcgatgCgtgcctgggtcagacacaaa	9	16	1	1	rs369247906		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:23859651C>T	ENST00000356287.3	-	25	3376	c.3347G>A	c.(3346-3348)cGc>cAc	p.R1116H	MYH6_ENST00000405093.3_Missense_Mutation_p.R1116H|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1116					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ctcctcGATGCGTGCCTGGGT	0.632																																					p.R1116H		.											.	MYH6-94	0			c.G3347A						.	C	HIS/ARG	0,4406		0,0,2203	17	19	18		3347	4.2	0.9	14		18	1,8595		0,1,4297	no	missense	MYH6	NM_002471.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1116/1940	23859651	1,13001	2203	4298	6501	SO:0001583	missense	4624	exon26			TCGATGCGTGCCT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3347G>A	14.37:g.23859651C>T	ENSP00000348634:p.Arg1116His	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	103	39	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	17.51	3.407393	0.62399	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81579	-1.51;-1.51	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.91099	0.7198	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93254	0.6637	9	0.87932	D	0	.	17.0442	0.86498	0.0:1.0:0.0:0.0	.	1116	P13533	MYH6_HUMAN	H	1116	ENSP00000386041:R1116H;ENSP00000348634:R1116H	ENSP00000348634:R1116H	R	-	2	0	MYH6	22929491	1.000000	0.71417	0.906000	0.35671	0.076000	0.17211	7.575000	0.82447	2.092000	0.63282	0.561000	0.74099	CGC	.		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23859651	C	T	23859651	3	4	49	1	0	0	0	0	1	0	0	0	10076	768	27	1	2528	1	MYH6	14	23859651	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	29654	23859651	83489889	215	10239											
AP1G2	8906	bcgsc.ca	37	chr14	24031492	24031495	+	Splice_Site	DEL	CTTA	CTTA	-													tcaaggggctgggaccccttCttacttgttgtccccacaga							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTTA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:24031492_24031495delCTTA	ENST00000308724.5	-	15	2384		c.e15+1		AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Splice_Site|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGACCCCTTCTTACTTGTTGTCC	0.583											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		.											.	AP1G2-45	0			.						.																																			SO:0001630	splice_region_variant	8906	.			CCCCTTCTTACTT	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1628+1TAAG>-	14.37:g.24031492_24031495delCTTA		Somatic	191	1	768	WXS	Illumina GAIIx	Phase_I	321	154	.	0	0	0	0	0	D3DS51|O75504	Splice_Site	DEL	ENST00000308724.5	37	CCDS9602.1																																																																																			.		0.583	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	Intron	-	24031495	CTTA	-	24031492	8	5	49	1	0	1	0	1	0	0	1	0	733	928	32	0		0	AP1G2	14	24031492	Splice_Site	DEL	CTTA	TCGA-OR-A5LB-01A-11D-A29I-10	171841	24031492	83318048	216	10240											
LRRC16B	90668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24538366	24538366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccctgatccaggccggCggactgcccccctgaagccc	12	20	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:24538366C>T	ENST00000342740.5	+	39	4157	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R388W|CPNE6_ENST00000537691.1_5'Flank|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1335						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)		TCCAGGCCGGCGGACTGCCCC	0.617																																					p.R1335W		.											.	LRRC16B-139	0			c.C4003T						.						37	40	39					14																	24538366		2203	4300	6503	SO:0001583	missense	90668	exon39			GGCCGGCGGACTG	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.4003C>T	14.37:g.24538366C>T	ENSP00000340467:p.Arg1335Trp	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	241	106	NM_138360	0	0	0	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897674	0.72639	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.61627	0.09;0.09	5.18	3.19	0.36642	.	0.000000	0.39687	N	0.001293	T	0.58991	0.2161	N	0.19112	0.55	0.31332	N	0.684713	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.62992	-0.6736	10	0.62326	D	0.03	-23.1754	10.0437	0.42173	0.3873:0.6127:0.0:0.0	.	388;1335	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	W	1335;388	ENSP00000340467:R1335W;ENSP00000334701:R388W	ENSP00000334701:R388W	R	+	1	2	LRRC16B	23608206	0.526000	0.26298	0.997000	0.53966	0.954000	0.61252	0.240000	0.18042	1.384000	0.46424	0.655000	0.94253	CGG	.		0.617	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		T	24538366	C	T	24538366	3	4	49	1	0	0	0	0	1	0	0	0	9007	759	27	1	4157	1	LRRC16B	14	24538366	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	506874	24538366	82811174	217	10241											
NYNRIN	57523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	24885257	24885258	+	Frame_Shift_Del	DEL	CT	CT	-													taccgaacctcctaccggggCtctctgtttgctgtgacagt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:24885257_24885258delCT	ENST00000382554.3	+	9	4620_4621	c.4302_4303delCT	c.(4300-4305)ggctctfs	p.S1435fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1435					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTACCGGGGCTCTCTGTTTGC	0.594																																					p.1434_1435del		.											.	NYNRIN-3	0			c.4302_4303del						.																																			SO:0001589	frameshift_variant	57523	exon9			CCGGGGCTCTCTG	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4302_4303delCT	14.37:g.24885261_24885262delCT	ENSP00000371994:p.Ser1435fs	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	124	74	NM_025081	0	0	0	0	0	Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Del	DEL	ENST00000382554.3	37	CCDS45090.1																																																																																			.		0.594	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			-	24885258	CT	-	24885257	7	5	49	1	0	1	0	1	0	0	0	0	10835	784	28	0	4332	0	NYNRIN	14	24885257	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LB-01A-11D-A29I-10	346891	24885257	82464283	218	10242											
INSM2	84684	broad.mit.edu	37	chr14	36004658	36004658	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccaccgctgcctcagggCccctacacggagggggtgtt	15	14	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:36004658C>A	ENST00000307169.3	+	1	1411	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	400					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)			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)		TGCCTCAGGGCCCCTACACGG	0.682																																					p.G400G		.											.	INSM2-226	0			c.C1200A						.						24	30	28					14																	36004658		2160	4279	6439	SO:0001819	synonymous_variant	84684	exon1			TCAGGGCCCCTAC	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.1200C>A	14.37:g.36004658C>A		Somatic	39	1		WXS	Illumina GAIIx	Phase_I	146	5	NM_032594	0	0	0	0	0	A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	CCDS9657.1																																																																																			.		0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			A	36004658	C	A	36004658	2	1	49	1	0	0	0	0	0	0	0	1	7799	726	26	3		3	INSM2	14	36004658	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	11119401	36004658	71344882	219	10243											
FBXO34	55030	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	55818555	55818555	+	Frame_Shift_Del	DEL	T	T	-													acccagttccagggatgttgTtttttttgccacctggtcag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:55818555delT	ENST00000313833.4	+	2	1692	c.1447delT	c.(1447-1449)tttfs	p.F484fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.F484fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	484										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGGGATGTTGTTTTTTTTGCC	0.443																																					p.F483fs		.											.	FBXO34-228	0			c.1447delT						.						95	94	94					14																	55818555		2203	4300	6503	SO:0001589	frameshift_variant	55030	exon2			ATGTTGTTTTTTT	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1447delT	14.37:g.55818555delT	ENSP00000313159:p.Phe484fs	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	197	78	NM_017943	0	0	0	0	0	Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Del	DEL	ENST00000313833.4	37	CCDS32086.1																																																																																			.		0.443	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			-	55818555	T	-	55818555	7	5	49	1	0	1	0	1	0	0	0	0	5766	1725	60	0	1449	0	FBXO34	14	55818555	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	19813897	55818555	51530985	220	10244											
SYNE2	23224	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	64596621	64596621	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtttacaaattagaggTatgcctgagcagaaaacatt	11	5	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:64596621T>C	ENST00000344113.4	+	75	14351		c.e75+2		ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						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)		AAATTAGAGGTATGCCTGAGC	0.468																																					.		.											.	SYNE2-164	0			c.14139+2T>C						.						111	109	110					14																	64596621		2203	4300	6503	SO:0001630	splice_region_variant	23224	exon75			TAGAGGTATGCCT	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.14139+2T>C	14.37:g.64596621T>C		Somatic	91	2		WXS	Illumina GAIIx	Phase_I	230	95	NM_182914	0	0	0	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609547	0.66558	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6679	0.68921	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63666374	1.000000	0.71417	0.981000	0.43875	0.808000	0.45660	5.753000	0.68736	1.947000	0.56498	0.533000	0.62120	.	.		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	C	64596621	T	C	64596621	5	2	49	1	0	0	0	0	0	0	1	0	15493	1652	57	4	14435	4	SYNE2	14	64596621	Splice_Site	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	8778066	64596621	42752919	221	10245											
GPR68	8111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	91701094	91701094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagatgttctcgtacaGgaggatgccgcacacctggc	13	10	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:91701094G>T	ENST00000531499.2	-	2	640	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.L101M|GPR68_ENST00000238699.3_Missense_Mutation_p.L111M			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	101					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TTCTCGTACAGGAGGATGCCG	0.612																																					p.L101M		.											.	GPR68-91	0			c.C301A						.						69	55	60					14																	91701094		2203	4300	6503	SO:0001583	missense	8111	exon2			CGTACAGGAGGAT	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.301C>A	14.37:g.91701094G>T	ENSP00000434045:p.Leu101Met	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	405	199	NM_001177676	0	0	0	0	0	Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216892	0.39201	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.47469	0.1447	L	0.41236	1.265	0.42351	D	0.992374	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.33007	-0.9885	10	0.32370	T	0.25	.	10.5608	0.45144	0.1501:0.0:0.8499:0.0	.	101;101	Q6NWR5;Q15743	.;OGR1_HUMAN	M	101;111;101;101	ENSP00000434045:L101M;ENSP00000238699:L111M;ENSP00000440797:L101M;ENSP00000432740:L101M	ENSP00000238699:L111M	L	-	1	2	GPR68	90770847	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	3.626000	0.54245	2.455000	0.83008	0.561000	0.74099	CTG	.		0.612	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			T	91701094	G	T	91701094	3	4	49	1	0	0	0	0	1	0	0	0	6733	991	35	3	800	3	GPR68	14	91701094	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	27104473	91701094	15648446	222	10246											
GSC	145258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95235475	95235475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgcagctcggtgcgCgacagcgtgcccacgttcat	13	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:95235475C>T	ENST00000238558.3	-	2	644	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	145					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		GCTCGGTGCGCGACAGCGTGC	0.657																																					p.S145S	Pancreas(105;2165 2186 4892 18008)	.											.	GSC-90	0			c.G435A						.						21	16	18					14																	95235475		2193	4294	6487	SO:0001819	synonymous_variant	145258	exon2			GGTGCGCGACAGC		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"Homeoboxes / PRD class"	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.435G>A	14.37:g.95235475C>T		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	343	83	NM_173849	0	0	0	0	0	Q86YR1	Silent	SNP	ENST00000238558.3	37	CCDS9930.1																																																																																			.		0.657	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			T	95235475	C	T	95235475	2	4	49	1	0	0	0	0	0	0	0	1	6841	755	27	1		1	GSC	14	95235475	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	3534381	95235475	12114065	223	10247											
BDKRB2	624	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	96706741	96706741	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccactttctttcagcGccgacatgctcaatgtcacc	5	15	4	0	rs200693201		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:96706741G>A	ENST00000306005.3	+	3	272	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000554311.1_Splice_Site_p.A26T|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000542454.2_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	26					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TTCTTTCAGCGCCGACATGCT	0.552																																					p.A26T		.											.	BDKRB2-662	0			c.G76A						.						200	217	211					14																	96706741		2202	4300	6502	SO:0001630	splice_region_variant	624	exon3			TTCAGCGCCGACA	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.75-1G>A	14.37:g.96706741G>A		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	148	68	NM_000623	0	0	0	0	0		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	g	8.420	0.846275	0.16963	.	.	ENSG00000168398	ENST00000554311;ENST00000306005	T;T	0.70986	-0.53;-0.53	4.83	-7.43	0.01383	.	2.294120	0.01971	N	0.044132	T	0.37293	0.0998	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49437	-0.8940	10	0.02654	T	1	-0.0964	0.7593	0.01004	0.3814:0.1132:0.1789:0.3265	.	26	P30411	BKRB2_HUMAN	T	26	ENSP00000450482:A26T;ENSP00000307713:A26T	ENSP00000307713:A26T	A	+	1	0	BDKRB2	95776494	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.280000	0.02804	-1.391000	0.02085	-0.215000	0.12644	GCC	.		0.552	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1		Missense_Mutation	A	96706741	G	A	96706741	5	1	49	1	0	0	0	0	0	0	1	0	1394	1101	38	1	82	1	BDKRB2	14	96706741	Splice_Site	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1471266	96706741	10642799	224	10248											
ADSSL1	122622	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105201420	105201420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacgacttccacctgctgCccagcggcatcatcaacacc	7	17	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:105201420C>T	ENST00000330877.2	+	2	341	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	ADSSL1_ENST00000332972.5_Missense_Mutation_p.P129S	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CCACCTGCTGCCCAGCGGCAT	0.627																																					p.P129S		.											.	ADSSL1-515	0			c.C385T						.						74	58	63					14																	105201420		2203	4300	6503	SO:0001583	missense	122622	exon2			CTGCTGCCCAGCG	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.256C>T	14.37:g.105201420C>T	ENSP00000331260:p.Pro86Ser	Somatic	201	1		WXS	Illumina GAIIx	Phase_I	459	89	NM_199165	0	0	3	5	2		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741179	0.89573	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.73681	-0.77;-0.77	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94331	0.7562	10	0.87932	D	0	-12.0502	15.6745	0.77303	0.0:1.0:0.0:0.0	.	129;86	Q8N142-2;Q8N142	.;PURA1_HUMAN	S	86;129	ENSP00000331260:P86S;ENSP00000333019:P129S	ENSP00000331260:P86S	P	+	1	0	ADSSL1	104272465	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.491000	0.81471	1.914000	0.55421	0.561000	0.74099	CCC	.		0.627	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			T	105201420	C	T	105201420	3	4	49	1	0	0	0	0	1	0	0	0	348	739	26	3	587	3	ADSSL1	14	105201420	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	8494679	105201420	2148120	225	10249											
ADSSL1	122622	broad.mit.edu	37	chr14	105201447	105201447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatcaacaccaaggccGtgtccttcattggtgagtgc	10	12	3	1	rs554970016		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:105201447G>A	ENST00000330877.2	+	2	368	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	ADSSL1_ENST00000332972.5_Missense_Mutation_p.V138M	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CACCAAGGCCGTGTCCTTCAT	0.647																																					p.V138M		.											.	ADSSL1-515	0			c.G412A						.						65	50	55					14																	105201447		2203	4300	6503	SO:0001583	missense	122622	exon2			AAGGCCGTGTCCT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.283G>A	14.37:g.105201447G>A	ENSP00000331260:p.Val95Met	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	462	10	NM_199165	0	0	0	0	0		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990160	0.35131	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.44881	0.91;0.91	3.72	1.84	0.25277	.	0.471926	0.22193	N	0.063342	T	0.24661	0.0598	L	0.42487	1.325	0.58432	D	0.999998	P;B	0.36171	0.541;0.149	B;B	0.24269	0.052;0.022	T	0.05937	-1.0855	10	0.51188	T	0.08	-12.6825	3.1947	0.06629	0.3615:0.2102:0.4283:0.0	.	138;95	Q8N142-2;Q8N142	.;PURA1_HUMAN	M	95;138	ENSP00000331260:V95M;ENSP00000333019:V138M	ENSP00000331260:V95M	V	+	1	0	ADSSL1	104272492	0.940000	0.31905	0.552000	0.28243	0.484000	0.33280	1.899000	0.39818	0.254000	0.21573	-0.264000	0.10439	GTG	.		0.647	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			A	105201447	G	A	105201447	3	1	49	1	0	0	0	0	1	0	0	0	348	1145	40	1	614	1	ADSSL1	14	105201447	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	27	105201447	2148093	226	10250											
BRF1	2972	hgsc.bcm.edu;broad.mit.edu	37	chr14	105693009	105693010	+	Frame_Shift_Ins	INS	-	-	G													ctctgcccagctgtgtacgaINSgggggggtcgcactcctcct					rs369618475		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr14:105693009_105693010insG	ENST00000546474.1	-	8	15835_15836	c.876_877insC	c.(874-879)ccctcgfs	p.S293fs	BRF1_ENST00000379932.4_Frame_Shift_Ins_p.S89fs|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.S55fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.S178fs|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.S178fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.S266fs|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.S89fs|BRF1_ENST00000551787.1_Frame_Shift_Ins_p.S89fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	293					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.S293fs*11(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCTGTGTACGAGGGGGGGTCGC	0.584																																					p.S293fs		.											.	BRF1-155	1	Deletion - Frameshift(1)	large_intestine(1)	c.877_878insC						.																																			SO:0001589	frameshift_variant	2972	exon8			TGTACGAGGGGGG	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.877dupC	14.37:g.105693016_105693016dupG	ENSP00000448323:p.Ser293fs	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	75	12	NM_001519	0	0	0	0	0	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Ins	INS	ENST00000546474.1	37	CCDS10001.1																																																																																			.		0.584	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		G	105693010	-	G	105693009	7	5	49	1	0	1	1	0	0	0	0	0	1514	304	11	0	1200	0	BRF1	14	105693009	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	491562	105693009	1656531	227	10251											
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	29393975	29393975	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgatctgccatgtgttCgagtcggaggatgtaagtaa	13	5	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:29393975C>T	ENST00000558402.1	+	11	2111	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	APBA2_ENST00000411764.1_Silent_p.F492F|APBA2_ENST00000558330.1_Silent_p.F492F|APBA2_ENST00000558259.1_Silent_p.F504F|APBA2_ENST00000561069.1_Silent_p.F504F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	504	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCATGTGTTCGAGTCGGAGG	0.617																																					p.F504F		.											.	APBA2-90	0			c.C1512T						.						68	50	56					15																	29393975		2203	4299	6502	SO:0001819	synonymous_variant	321	exon9			TGTGTTCGAGTCG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1512C>T	15.37:g.29393975C>T		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	308	132	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			.		0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29393975	C	T	29393975	2	4	49	1	0	0	0	0	0	0	0	1	757	883	31	1		1	APBA2	15	29393975	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		29393975	73137417	228	10252											
RYR3	6263	ucsc.edu;bcgsc.ca	37	chr15	34080629	34080629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctctatgccttctaccCcatgctgatccgctacgtgg	8	14	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:34080629C>T	ENST00000389232.4	+	67	9870	c.9800C>T	c.(9799-9801)cCc>cTc	p.P3267L	RYR3_ENST00000415757.3_Missense_Mutation_p.P3267L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3267					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)		GCCTTCTACCCCATGCTGATC	0.552																																					p.P3267L		.											.	RYR3-520	0			c.C9800T						.						62	64	63					15																	34080629		2020	4206	6226	SO:0001583	missense	6263	exon67			TCTACCCCATGCT		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.9800C>T	15.37:g.34080629C>T	ENSP00000373884:p.Pro3267Leu	Somatic	131	2		WXS	Illumina GAIIx	Phase_I	283	124	NM_001243996	0	0	0	0	0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098078	0.76870	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62639	0.01;0.01	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85916	0.1443	10	0.87932	D	0	.	17.529	0.87808	0.0:1.0:0.0:0.0	.	3267;3267	Q15413-2;Q15413	.;RYR3_HUMAN	L	3267	ENSP00000373884:P3267L;ENSP00000399610:P3267L	ENSP00000354735:P3267L	P	+	2	0	RYR3	31867921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.447000	0.82792	0.655000	0.94253	CCC	.		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34080629	C	T	34080629	3	4	49	1	0	0	0	0	1	0	0	0	13815	623	22	3	10066	3	RYR3	15	34080629	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	4686654	34080629	68450763	229	10253											
LPCAT4	254531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	34651423	34651423	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgtctgggaggtgcctcGagaggtgtgtggggggcgca	22	6	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:34651423G>A	ENST00000314891.6	-	14	1657	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	494					cellular lipid metabolic process (GO:0044255)|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)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAGGTGCCTCGAGAGGTGTGT	0.577																																					p.R494X		.											.	LPCAT4-90	0			c.C1480T						.						88	84	86					15																	34651423		2200	4298	6498	SO:0001587	stop_gained	254531	exon14			TGCCTCGAGAGGT	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1480C>T	15.37:g.34651423G>A	ENSP00000317300:p.Arg494*	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	93	48	NM_153613	0	0	22	29	7	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Nonsense_Mutation	SNP	ENST00000314891.6	37	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	G	37	6.537817	0.97646	.	.	ENSG00000176454	ENST00000314891	.	.	.	4.01	4.01	0.46588	.	0.835795	0.10066	N	0.720260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-0.0668	13.0494	0.58946	0.0:0.0:1.0:0.0	.	.	.	.	X	494	.	ENSP00000317300:R494X	R	-	1	2	LPCAT4	32438715	0.996000	0.38824	0.994000	0.49952	0.987000	0.75469	0.789000	0.26886	1.748000	0.51833	0.313000	0.20887	CGA	.		0.577	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		A	34651423	G	A	34651423	4	1	49	1	0	0	0	0	0	1	0	0	8948	1066	37	1	98	1	LPCAT4	15	34651423	Nonsense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	570794	34651423	67879969	230	10254											
SPRED1	161742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	38643332	38643332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagacatcctgacatgtggAaaaatgacttggaaagagat	10	6	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:38643332A>G	ENST00000299084.4	+	7	1662	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	268	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				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)		TGACATGTGGAAAAATGACTT	0.393									Legius syndrome																												p.K268E	Melanoma(196;2146 2959 7698 16532)	.											.	SPRED1-1085	0			c.A802G						.						90	88	89					15																	38643332		2200	4297	6497	SO:0001583	missense	161742	exon7	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	ATGTGGAAAAATG	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.802A>G	15.37:g.38643332A>G	ENSP00000299084:p.Lys268Glu	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	171	29	NM_152594	0	0	7	11	4	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791835	0.50102	.	.	ENSG00000166068	ENST00000299084	D	0.84944	-1.92	5.83	5.83	0.93111	c-Kit-binding domain (1);	0.089688	0.85682	D	0.000000	D	0.82646	0.5082	L	0.43152	1.355	0.43745	D	0.996241	D	0.53151	0.958	P	0.49252	0.604	T	0.79396	-0.1821	10	0.17832	T	0.49	-0.1089	12.0913	0.53728	0.8567:0.1433:0.0:0.0	.	268	Q7Z699	SPRE1_HUMAN	E	268	ENSP00000299084:K268E	ENSP00000299084:K268E	K	+	1	0	SPRED1	36430624	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.932000	0.70121	2.217000	0.71921	0.528000	0.53228	AAA	.		0.393	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38643332	A	G	38643332	3	3	49	1	0	0	0	0	1	0	0	0	15139	247	9	4	828	4	SPRED1	15	38643332	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	3991909	38643332	63888060	231	10255											
RASGRP1	10125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	38786797	38786797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgaagggccctcactgCcaatccaaggctgtgattca	10	13	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:38786797C>T	ENST00000310803.5	-	16	2222	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G733D|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G634D|RASGRP1_ENST00000450598.2_Missense_Mutation_p.G647D|RASGRP1_ENST00000559830.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	682					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GCCCTCACTGCCAATCCAAGG	0.547																																					p.G682D		.											.	RASGRP1-697	0			c.G2045A						.						29	30	30					15																	38786797		1899	4106	6005	SO:0001583	missense	10125	exon16			TCACTGCCAATCC	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2045G>A	15.37:g.38786797C>T	ENSP00000310244:p.Gly682Asp	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	142	68	NM_005739	0	0	0	2	2	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491091	0.44249	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;T;T	0.79554	-1.06;-1.28;-1.15	5.01	4.1	0.47936	.	0.233339	0.35970	N	0.002874	T	0.66557	0.2801	L	0.27053	0.805	0.32844	D	0.505731	B;B	0.23058	0.078;0.079	B;B	0.23150	0.044;0.037	T	0.68819	-0.5308	10	0.62326	D	0.03	-10.8209	5.4897	0.16769	0.0:0.6437:0.1796:0.1766	.	682;647	O95267;O95267-2	GRP1_HUMAN;.	D	682;647;634	ENSP00000310244:G682D;ENSP00000388540:G647D;ENSP00000444762:G634D	ENSP00000310244:G682D	G	-	2	0	RASGRP1	36574089	0.110000	0.22057	0.876000	0.34364	0.644000	0.38419	0.714000	0.25808	1.363000	0.46019	-0.142000	0.14014	GGC	.		0.547	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		T	38786797	C	T	38786797	3	4	49	1	0	0	0	0	1	0	0	0	13119	739	26	3	356	3	RASGRP1	15	38786797	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	143465	38786797	63744595	232	10256											
INO80	54617	broad.mit.edu	37	chr15	41337219	41337219	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggcgctccccaggaGcgtagctgatggagcctgta	13	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:41337219G>T	ENST00000361937.3	-	24	3214	c.2790C>A	c.(2788-2790)cgC>cgA	p.R930R	INO80_ENST00000401393.3_Silent_p.R930R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	930	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCCCCAGGAGCGTAGCTGAT	0.507																																					p.R930R		.											.	INO80-72	0			c.C2790A						.						82	86	84					15																	41337219		2203	4300	6503	SO:0001819	synonymous_variant	54617	exon24			CCAGGAGCGTAGC	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.2790C>A	15.37:g.41337219G>T		Somatic	46	1		WXS	Illumina GAIIx	Phase_I	97	5	NM_017553	0	0	12	14	2	A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	CCDS10071.1																																																																																			.		0.507	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		T	41337219	G	T	41337219	2	4	49	1	0	0	0	0	0	0	0	1	7773	958	34	3		3	INO80	15	41337219	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2550422	41337219	61194173	233	10257											
SPTBN5	51332	bcgsc.ca	37	chr15	42169369	42169369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaggtggcagtgaaaCcatccacttctcggccaaac	10	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:42169369C>T	ENST00000320955.6	-	18	3883	c.3656G>A	c.(3655-3657)gGt>gAt	p.G1219D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1219					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)		GGCAGTGAAACCATCCACTTC	0.607																																					p.G1184D		.											.	SPTBN5-91	0			c.G3551A						.						66	76	73					15																	42169369		2146	4258	6404	SO:0001583	missense	51332	exon18			GTGAAACCATCCA	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.3656G>A	15.37:g.42169369C>T	ENSP00000317790:p.Gly1219Asp	Somatic	351	4		WXS	Illumina GAIIx	Phase_I	656	620	NM_016642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.34	1.910020	0.33721	.	.	ENSG00000137877	ENST00000320955	T	0.39406	1.08	4.96	1.96	0.26148	.	0.172740	0.38381	N	0.001702	T	0.26991	0.0661	L	0.41027	1.25	0.20196	N	0.99993	B	0.26512	0.151	B	0.30105	0.111	T	0.30592	-0.9973	10	0.05620	T	0.96	.	7.5259	0.27656	0.134:0.7159:0.0:0.1501	.	1219	Q9NRC6	SPTN5_HUMAN	D	1219	ENSP00000317790:G1219D	ENSP00000317790:G1219D	G	-	2	0	SPTBN5	39956661	0.007000	0.16637	0.659000	0.29680	0.989000	0.77384	0.693000	0.25497	0.203000	0.20529	0.561000	0.74099	GGT	.		0.607	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42169369	C	T	42169369	3	4	49	1	0	0	0	0	1	0	0	0	15169	507	18	3	7572	3	SPTBN5	15	42169369	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	832150	42169369	60362023	234	10258											
B2M	567	hgsc.bcm.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614																																					p.13_13del		.											.	B2M-93	6	Deletion - Frameshift(5)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|skin(1)	c.37_38del						.																																			SO:0001589	frameshift_variant	567	exon1			GCGCTACTCTCTC	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.37_38delCT	15.37:g.45003787_45003788delCT	ENSP00000452780:p.Leu13fs	Somatic	65	2		WXS	Illumina GAIIx	Phase_I	201	177	NM_004048	0	0	0	0	0	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																			.		0.614	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45003782	CT	-	45003781	7	5	49	1	0	1	0	1	0	0	0	0	1245	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LB-01A-11D-A29I-10	2834412	45003781	57527611	235	10259											
SPATA5L1	79029	hgsc.bcm.edu	37	chr15	45695445	45695445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccccggcgctgcagggttCccggcctggggagaccgagg	18	15	0	1	rs143453038	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:45695445C>G	ENST00000305560.6	+	1	917	c.818C>G	c.(817-819)tCc>tGc	p.S273C	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.S273C|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	273						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCAGGGTTCCCGGCCTGGG	0.761													C|||	50	0.00998403	0.0023	0.0202	5008	,	,		12129	0		0.0298	False		,,,				2504	0.0031				p.S273C		.											.	SPATA5L1-94	0			c.C818G						.	C	CYS/SER	17,3375		0,17,1679	3	4	4		818	4.9	0.3	15	dbSNP_134	4	149,7059		1,147,3456	no	missense	SPATA5L1	NM_024063.2	112	1,164,5135	GG,GC,CC		2.0671,0.5012,1.566	possibly-damaging	273/754	45695445	166,10434	1696	3604	5300	SO:0001583	missense	79029	exon1			AGGGTTCCCGGCC	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.818C>G	15.37:g.45695445C>G	ENSP00000305494:p.Ser273Cys	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	15	14	NM_024063	0	0	0	3	3	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	40	0.018315018315018316	8	0.016260162601626018	9	0.024861878453038673	0	0.0	23	0.030343007915567283	C	20.5	3.999282	0.74818	0.005012	0.020671	ENSG00000171763	ENST00000305560	D	0.93426	-3.22	4.9	4.9	0.64082	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.367137	0.28560	N	0.014910	D	0.89111	0.6622	M	0.68728	2.09	0.20307	N	0.999919	D	0.56035	0.974	P	0.57057	0.812	D	0.85330	0.1089	10	0.87932	D	0	-22.4119	16.8259	0.85931	0.0:1.0:0.0:0.0	.	273	Q9BVQ7	SPA5L_HUMAN	C	273	ENSP00000305494:S273C	ENSP00000305494:S273C	S	+	2	0	SPATA5L1	43482737	0.758000	0.28405	0.314000	0.25224	0.281000	0.26958	7.247000	0.78257	2.536000	0.85505	0.585000	0.79938	TCC	C|0.982;G|0.018		0.761	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		G	45695445	C	G	45695445	3	3	49	1	0	0	0	0	1	0	0	0	15059	855	30	3	820	3	SPATA5L1	15	45695445	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	691664	45695445	56835947	236	10260											
MNS1	55329	hgsc.bcm.edu	37	chr15	56736723	56736723	+	Frame_Shift_Del	DEL	T	T	-													gctgctcataagcttcctgcTtttttttttcttgttcttca					rs549395315	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:56736723delT	ENST00000260453.3	-	5	769	c.605delA	c.(604-606)aagfs	p.K202fs	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	202	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AGCTTCCTGCTTTTTTTTTTC	0.338													|||unknown(HR)	17	0.00339457	0.0076	0.0029	5008	,	,		18408	0		0.002	False		,,,				2504	0.0031				p.K202fs		.											.	MNS1-91	1	Unknown(1)	skin(1)	c.605delA						.						147	141	143					15																	56736723		2192	4292	6484	SO:0001589	frameshift_variant	55329	exon5			TCCTGCTTTTTTT	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.605delA	15.37:g.56736723delT	ENSP00000260453:p.Lys202fs	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	94	42	NM_018365	0	0	0	0	0	Q8IYT6|Q9NUP4	Frame_Shift_Del	DEL	ENST00000260453.3	37	CCDS10158.1																																																																																			.		0.338	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		-	56736723	T	-	56736723	7	5	49	1	0	1	0	1	0	0	0	0	9715	1609	56	0	906	0	MNS1	15	56736723	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	11041278	56736723	45794669	237	10261											
NR2E3	10002	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr15	72105935	72105935	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattggcggtggacccccaCggagtttgcctgcatgaagg	15	11	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:72105935C>T	ENST00000398840.2	+	0	1143							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						TGGACCCCCACGGAGTTTGCC	0.607																																					p.T318M		.											.	NR2E3-22	0			c.C953T						.						57	61	60					15																	72105935		2019	4168	6187			10002	exon7			CCCCCACGGAGTT		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72105935C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	131	46	NM_016346	0	0	0	0	0	B6ZGU0|Q9UHM4	Missense_Mutation	SNP	ENST00000398840.2	37		.	.	.	.	.	.	.	.	.	.	C	15.19	2.758665	0.49468	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	5.47	4.55	0.56014	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.	.	.	.	T	0.79902	0.4526	.	.	.	.	.	.	D	0.89917	1.0	D	0.75484	0.986	D	0.84279	0.0493	6	0.87932	D	0	.	15.7441	0.77926	0.1374:0.8626:0.0:0.0	.	318	Q9Y5X4	NR2E3_HUMAN	M	230;318	.	ENSP00000317199:T230M	T	+	2	0	NR2E3	69892989	1.000000	0.71417	0.955000	0.39395	0.975000	0.68041	5.993000	0.70616	1.274000	0.44362	0.561000	0.74099	ACG	.		0.607	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		T	72105935	C	T	72105935	1	4	49	0	1	0	0	0	0	0	0	0	10665	535	19	1		1	NR2E3	15	72105935	RNA	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	15369212	72105935	30425457	238	10262											
PML	5371	broad.mit.edu;bcgsc.ca	37	chr15	74315257	74315257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagtgcgacatcagcGcagagatccagcagcgacag	12	12	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:74315257G>A	ENST00000268058.3	+	3	787	c.691G>A	c.(691-693)Gca>Aca	p.A231T	PML_ENST00000569477.1_Missense_Mutation_p.A231T|PML_ENST00000435786.2_Missense_Mutation_p.A231T|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.A231T|PML_ENST00000395135.3_Missense_Mutation_p.A231T|PML_ENST00000395132.2_Missense_Mutation_p.A231T|PML_ENST00000354026.6_Missense_Mutation_p.A231T|PML_ENST00000268059.6_Missense_Mutation_p.A231T|PML_ENST00000563500.1_Missense_Mutation_p.A231T|PML_ENST00000359928.4_Missense_Mutation_p.A231T|PML_ENST00000564428.1_Missense_Mutation_p.A231T|PML_ENST00000565898.1_Missense_Mutation_p.A231T|PML_ENST00000436891.3_Missense_Mutation_p.A231T|PML_ENST00000569965.1_Missense_Mutation_p.A231T	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	231					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGACATCAGCGCAGAGATCCA	0.632			T	"RARA, PAX5"	"APL, ALL"																																p.A231T		.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML-1083	0			c.G691A						.						38	33	35					15																	74315257		2198	4297	6495	SO:0001583	missense	5371	exon3			ATCAGCGCAGAGA	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.691G>A	15.37:g.74315257G>A	ENSP00000268058:p.Ala231Thr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	193	7	NM_033250	0	0	12	13	1	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117528	0.20877	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T	0.57107	0.42;0.42;0.93;0.42	4.82	-5.46	0.02608	.	1.885520	0.02640	N	0.105231	T	0.18800	0.0451	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.31485	0.0;0.003;0.007;0.009;0.01;0.002;0.325;0.04;0.04;0.002;0.04;0.008	B;B;B;B;B;B;B;B;B;B;B;B	0.13407	0.001;0.002;0.002;0.005;0.005;0.001;0.009;0.007;0.007;0.001;0.008;0.002	T	0.10870	-1.0611	10	0.11485	T	0.65	-0.0203	5.54	0.17033	0.4895:0.0:0.2819:0.2286	.	181;231;231;231;231;231;231;231;231;231;231;234	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	T	231	ENSP00000353004:A231T;ENSP00000394642:A231T;ENSP00000268058:A231T;ENSP00000378564:A231T	ENSP00000268058:A231T	A	+	1	0	PML	72102310	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-3.299000	0.00521	-0.810000	0.04375	0.313000	0.20887	GCA	.		0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		A	74315257	G	A	74315257	3	1	49	1	0	0	0	0	1	0	0	0	12174	1087	38	1	701	1	PML	15	74315257	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2209322	74315257	28216135	239	10263											
PML	5371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74315308	74315308	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatgacgcaggcgctgCaggagcaggatagtgccttt	14	11	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:74315308C>T	ENST00000268058.3	+	3	838	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	PML_ENST00000569477.1_Nonsense_Mutation_p.Q248*|PML_ENST00000435786.2_Nonsense_Mutation_p.Q248*|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Nonsense_Mutation_p.Q248*|PML_ENST00000395135.3_Nonsense_Mutation_p.Q248*|PML_ENST00000395132.2_Nonsense_Mutation_p.Q248*|PML_ENST00000354026.6_Nonsense_Mutation_p.Q248*|PML_ENST00000268059.6_Nonsense_Mutation_p.Q248*|PML_ENST00000563500.1_Nonsense_Mutation_p.Q248*|PML_ENST00000359928.4_Nonsense_Mutation_p.Q248*|PML_ENST00000564428.1_Nonsense_Mutation_p.Q248*|PML_ENST00000565898.1_Nonsense_Mutation_p.Q248*|PML_ENST00000436891.3_Nonsense_Mutation_p.Q248*|PML_ENST00000569965.1_Nonsense_Mutation_p.Q248*	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	248					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCAGGCGCTGCAGGAGCAGGA	0.677			T	"RARA, PAX5"	"APL, ALL"																																p.Q248X		.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML-1083	0			c.C742T						.						27	23	24					15																	74315308		2198	4297	6495	SO:0001587	stop_gained	5371	exon3			GCGCTGCAGGAGC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.742C>T	15.37:g.74315308C>T	ENSP00000268058:p.Gln248*	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	133	57	NM_033250	0	0	2	2	0	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Nonsense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423985	0.96111	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	.	.	.	4.82	1.38	0.22167	.	1.218590	0.05768	N	0.606204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-13.2282	6.2759	0.20981	0.3918:0.3155:0.2927:0.0	.	.	.	.	X	248	.	ENSP00000268058:Q248X	Q	+	1	0	PML	72102361	0.997000	0.39634	0.959000	0.39883	0.601000	0.36947	0.544000	0.23253	0.409000	0.25649	0.313000	0.20887	CAG	.		0.677	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74315308	C	T	74315308	4	4	49	1	0	0	0	0	0	1	0	0	12174	711	25	3	752	3	PML	15	74315308	Nonsense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	51	74315308	28216084	240	10264											
KIAA1199	57214	broad.mit.edu	37	chr15	81201549	81201549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggccggtgatgtagacGaaaggggaggttatgaccca	15	8	0	3	rs200544972		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:81201549G>A	ENST00000394685.3	+	14	2118	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E567K|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E567K|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		567	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGATGTAGACGAAAGGGGAGG	0.542																																					p.E567K		.											.	KIAA1199-93	0			c.G1699A						.						172	124	140					15																	81201549		2203	4300	6503	SO:0001583	missense	57214	exon13			GTAGACGAAAGGG																												ENST00000394685.3:c.1699G>A	15.37:g.81201549G>A	ENSP00000378177:p.Glu567Lys	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	338	8	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	8.606	0.887984	0.17540	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.43294	0.95;0.95;0.95	4.57	3.65	0.41850	Pectin lyase fold/virulence factor (1);	0.261941	0.35207	N	0.003368	T	0.44307	0.1287	M	0.83774	2.66	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.37753	-0.9692	10	0.19590	T	0.45	-7.41	12.4512	0.55679	0.0814:0.0:0.9186:0.0	.	567	Q8WUJ3	K1199_HUMAN	K	567	ENSP00000220244:E567K;ENSP00000378177:E567K;ENSP00000348583:E567K	ENSP00000220244:E567K	E	+	1	0	KIAA1199	78988604	0.996000	0.38824	0.005000	0.12908	0.084000	0.17831	2.580000	0.46068	1.145000	0.42336	0.467000	0.42956	GAA	G|0.999;A|0.001		0.542	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81201549	G	A	81201549	3	1	49	1	0	0	0	0	1	0	0	0	8240	1059	37	1	1745	1	KIAA1199	15	81201549	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	6886241	81201549	21329843	241	10265											
KIAA1199	57214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81218052	81218052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacaagaaccaggaccaCggggcctggctgcgcggcgg	16	14	0	1	rs372531428		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:81218052C>T	ENST00000394685.3	+	19	2795	c.2376C>T	c.(2374-2376)caC>caT	p.H792H	KIAA1199_ENST00000220244.3_Silent_p.H792H|KIAA1199_ENST00000356249.5_Silent_p.H792H|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		792					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						ACCAGGACCACGGGGCCTGGC	0.657																																					p.H792H		.											.	KIAA1199-93	0			c.C2376T						.	C		1,4403	2.1+/-5.4	0,1,2201	30	34	33		2376	-5.4	0.9	15		33	0,8600		0,0,4300	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		792/1362	81218052	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	57214	exon18			GGACCACGGGGCC																												ENST00000394685.3:c.2376C>T	15.37:g.81218052C>T		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	170	159	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.		0.657	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81218052	C	T	81218052	2	4	49	1	0	0	0	0	0	0	0	1	8240	535	19	1		1	KIAA1199	15	81218052	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	16503	81218052	21313340	242	10266											
KIF7	374654	hgsc.bcm.edu	37	chr15	90171910	90171910	+	Frame_Shift_Del	DEL	C	C	-													ctcctcccgggtgcggggggCcccctcagtgaggggggaca							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:90171910delC	ENST00000394412.3	-	19	3848	c.3772delG	c.(3772-3774)gccfs	p.A1258fs	KIF7_ENST00000558928.1_5'UTR	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1258					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)			GTGCGGGGGGCCCCCTCAGTG	0.662																																					p.A1258fs		.											.	KIF7-523	0			c.3772delG						.						20	26	24					15																	90171910		2189	4287	6476	SO:0001589	frameshift_variant	374654	exon19			GGGGGGCCCCCTC	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.3772delG	15.37:g.90171910delC	ENSP00000377934:p.Ala1258fs	Somatic	49	2		WXS	Illumina GAIIx	Phase_I	113	19	NM_198525	0	0	0	0	0	Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	CCDS32325.2																																																																																			.		0.662	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		-	90171910	C	-	90171910	7	5	49	1	0	1	0	1	0	0	0	0	8336	739	26	0	263	0	KIF7	15	90171910	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	8953858	90171910	12359482	243	10267											
KIF7	374654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	90190208	90190209	+	Frame_Shift_Ins	INS	-	-	C													ggccattcaggagccgcgggINScccccccagcctggccgcac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:90190208_90190209insC	ENST00000394412.3	-	7	1716_1717	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGAGCCGCGGGCCCCCCCAGCC	0.693											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G547fs		.											.	KIF7-523	0			c.1641_1642insG						.																																			SO:0001589	frameshift_variant	374654	exon7			CCGCGGGCCCCCC	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.1641dupG	15.37:g.90190215_90190215dupC	ENSP00000377934:p.Gly547fs	Somatic	29	0	1273	WXS	Illumina GAIIx	Phase_I	156	63	NM_198525	0	0	0	0	0	Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Ins	INS	ENST00000394412.3	37	CCDS32325.2																																																																																			.		0.693	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		C	90190209	-	C	90190208	7	5	49	1	0	1	1	0	0	0	0	0	8336	1190	42	0	2442	0	KIF7	15	90190208	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	18298	90190208	12341184	244	10268											
KIF7	374654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	90192528	90192528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgtgtgccgcgccgcGttgcccatctccaggaggct	13	17	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr15:90192528G>A	ENST00000394412.3	-	4	676	c.600C>T	c.(598-600)aaC>aaT	p.N200N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	200	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCGCGCCGCGTTGCCCATCT	0.701																																					p.N200N		.											.	KIF7-523	0			c.C600T						.						1	2	2					15																	90192528		474	1207	1681	SO:0001819	synonymous_variant	374654	exon4			CGCCGCGTTGCCC	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.600C>T	15.37:g.90192528G>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	152	80	NM_198525	0	0	0	0	0	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	CCDS32325.2																																																																																			.		0.701	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90192528	G	A	90192528	2	1	49	1	0	0	0	0	0	0	0	1	8336	1136	40	1		1	KIF7	15	90192528	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2320	90192528	12338864	245	10269											
TPSAB1	7177	broad.mit.edu	37	chr16	1291287	1291287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggggctccctcatccaCccccagtgggtgctgaccgc	13	17	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:1291287C>T	ENST00000338844.3	+	3	228	c.195C>T	c.(193-195)caC>caT	p.H65H	TPSAB1_ENST00000461509.2_Silent_p.H72H	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	65	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCCTCATCCACCCCCAGTGGG	0.701																																					p.H65H		.											.	TPSAB1-22	0			c.C195T						.						48	47	47					16																	1291287		2198	4298	6496	SO:0001819	synonymous_variant	7177	exon3			CATCCACCCCCAG	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.195C>T	16.37:g.1291287C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	214	7	NM_003294	0	0	0	0	0	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																			.		0.701	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		T	1291287	C	T	1291287	2	4	49	1	0	0	0	0	0	0	0	1	16471	506	18	3		3	TPSAB1	16	1291287	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		1291287	89063466	246	10270											
TELO2	9894	hgsc.bcm.edu	37	chr16	1544462	1544462	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgcctcggcccacttctcGcctgtcctcagatgtcttgc	8	16	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:1544462G>T	ENST00000262319.6	+	2	459	c.180G>T	c.(178-180)tcG>tcT	p.S60S		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	60					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCACTTCTCGCCTGTCCTCA	0.642											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S60S		.											.	TELO2-90	0			c.G180T						.																																			SO:0001819	synonymous_variant	9894	exon2			CTTCTCGCCTGTC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.180G>T	16.37:g.1544462G>T		Somatic	96	0	596	WXS	Illumina GAIIx	Phase_I	107	6	NM_016111	0	0	18	18	0	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																			G|1.000;C|0.000		0.642	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1544462	G	T	1544462	2	4	49	1	0	0	0	0	0	0	0	1	15804	1074	38	2		2	TELO2	16	1544462	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	253175	1544462	88810291	247	10271											
IFT140	9742	broad.mit.edu;bcgsc.ca	37	chr16	1608017	1608017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtggagcatggcgtccCgggtggccttgtcgcagtcc	16	11	0	1	rs140458893		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:1608017C>A	ENST00000426508.2	-	19	2681	c.2318G>T	c.(2317-2319)cGg>cTg	p.R773L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	773					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CATGGCGTCCCGGGTGGCCTT	0.577																																					p.R773L		.											.	IFT140-95	0			c.G2318T						.						180	170	174					16																	1608017		2199	4300	6499	SO:0001583	missense	9742	exon19			GCGTCCCGGGTGG	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2318G>T	16.37:g.1608017C>A	ENSP00000406012:p.Arg773Leu	Somatic	125	2		WXS	Illumina GAIIx	Phase_I	157	8	NM_014714	0	0	1	1	0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377313	0.61735	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.60040	0.22	5.33	0.00553	0.14063	.	0.269957	0.37669	N	0.001981	T	0.60340	0.2261	M	0.76002	2.32	0.54753	D	0.999988	P;P	0.45715	0.667;0.865	B;P	0.50378	0.343;0.639	T	0.56727	-0.7931	10	0.52906	T	0.07	.	6.3561	0.21402	0.1114:0.4926:0.0:0.396	.	773;498	Q96RY7;B4DR58	IF140_HUMAN;.	L	773	ENSP00000406012:R773L	ENSP00000380562:R773L	R	-	2	0	IFT140	1548018	0.021000	0.18746	0.673000	0.29887	0.942000	0.58702	0.318000	0.19504	-0.205000	0.10219	-0.140000	0.14226	CGG	C|1.000;T|0.000		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1608017	C	A	1608017	3	1	49	1	0	0	0	0	1	0	0	0	7583	652	23	2	2122	2	IFT140	16	1608017	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	63555	1608017	88746736	248	10272											
DNAJA3	9093	ucsc.edu;bcgsc.ca	37	chr16	4496977	4496977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcttcttgggggtacaGccagagcccagggcctgtac	14	12	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:4496977G>A	ENST00000262375.6	+	8	1164	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	DNAJA3_ENST00000355296.4_Missense_Mutation_p.A363T|DNAJA3_ENST00000431375.2_Missense_Mutation_p.A210T	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	363					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						TGGGGGTACAGCCAGAGCCCA	0.522																																					p.A363T		.											.	DNAJA3-291	0			c.G1087A						.						68	70	70					16																	4496977		2197	4300	6497	SO:0001583	missense	9093	exon8			GGTACAGCCAGAG	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.1087G>A	16.37:g.4496977G>A	ENSP00000262375:p.Ala363Thr	Somatic	166	3		WXS	Illumina GAIIx	Phase_I	149	137	NM_001135110	0	0	0	0	0	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709728	0.68730	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.42131	0.98;0.98;0.98	5.47	5.47	0.80525	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.110120	0.64402	D	0.000006	T	0.42832	0.1220	L	0.43554	1.36	0.52099	D	0.999942	P;B;P	0.42337	0.743;0.171;0.776	B;B;B	0.43052	0.248;0.059;0.406	T	0.20638	-1.0269	10	0.36615	T	0.2	-19.7758	18.3202	0.90236	0.0:0.0:1.0:0.0	.	210;363;363	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	T	363;363;210	ENSP00000262375:A363T;ENSP00000347445:A363T;ENSP00000393970:A210T	ENSP00000262375:A363T	A	+	1	0	DNAJA3	4436978	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	7.984000	0.88150	2.583000	0.87209	0.561000	0.74099	GCC	.		0.522	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			A	4496977	G	A	4496977	3	1	49	1	0	0	0	0	1	0	0	0	4627	971	34	3	1117	3	DNAJA3	16	4496977	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2888960	4496977	85857776	249	10273											
SMG1	23049	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	18864971	18864974	+	Frame_Shift_Del	DEL	GAGT	GAGT	-													aacagatggcagttctattaGagtgagtatgtttttagaca							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	GAGT	GAGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:18864971_18864974delGAGT	ENST00000446231.2	-	31	5111_5114	c.4699_4702delACTC	c.(4699-4704)actctafs	p.TL1567fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.TL1567fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1567	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						AGTTCTATTAGAGTGAGTATGTTT	0.387																																					p.1567_1568del		.											.	SMG1-1160	0			c.4699_4702del						.																																			SO:0001589	frameshift_variant	23049	exon31			CTATTAGAGTGAG	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.4699_4702delACTC	16.37:g.18864975_18864978delGAGT	ENSP00000402515:p.Thr1567fs	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	222	87	NM_015092	0	0	0	0	0	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	CCDS45430.1																																																																																			.		0.387	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		-	18864974	GAGT	-	18864971	7	5	49	1	0	1	0	1	0	0	0	0	14840	933	33	0	6415	0	SMG1	16	18864971	Frame_Shift_Del	DEL	GAGT	TCGA-OR-A5LB-01A-11D-A29I-10	14367994	18864971	71489782	250	10274											
GPR139	124274	broad.mit.edu	37	chr16	20043749	20043749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgatatacctgtcaaTggttaacggtacagtaatcc	9	9	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:20043749T>C	ENST00000570682.1	-	2	670	c.370A>G	c.(370-372)Att>Gtt	p.I124V		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	124					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TACCTGTCAATGGTTAACGGT	0.493																																					p.I124V		.											.	GPR139-92	0			c.A370G						.						155	125	135					16																	20043749		2203	4300	6503	SO:0001583	missense	124274	exon2			TGTCAATGGTTAA	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.370A>G	16.37:g.20043749T>C	ENSP00000458791:p.Ile124Val	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	417	11	NM_001002911	0	0	0	0	0	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	0.094	-1.162077	0.01673	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.108332	0.64402	N	0.000007	T	0.25195	0.0612	N	0.05487	-0.04	0.42200	D	0.991768	B	0.02656	0.0	B	0.04013	0.001	T	0.17440	-1.0369	9	0.02654	T	1	-16.8107	8.8448	0.35164	0.0:0.1541:0.0:0.8459	.	124	Q6DWJ6	GP139_HUMAN	V	124	.	ENSP00000370779:I124V	I	-	1	0	GPR139	19951250	0.987000	0.35691	0.059000	0.19551	0.709000	0.40893	2.148000	0.42235	0.459000	0.27016	0.533000	0.62120	ATT	.		0.493	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		C	20043749	T	C	20043749	3	2	49	1	0	0	0	0	1	0	0	0	6674	1464	51	4	695	4	GPR139	16	20043749	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	1178778	20043749	70311004	251	10275											
VWA3A	146177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	22128481	22128481	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taggggctactaccactgctAcagcccaaagatggaggtaa	11	10	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:22128481A>T	ENST00000389398.5	+	11	1070	c.974A>T	c.(973-975)tAc>tTc	p.Y325F	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	325						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TACCACTGCTACAGCCCAAAG	0.562																																					p.Y325F		.											.	VWA3A-1	0			c.A974T						.						135	128	130					16																	22128481		1961	4157	6118	SO:0001583	missense	146177	exon11			ACTGCTACAGCCC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.974A>T	16.37:g.22128481A>T	ENSP00000374049:p.Tyr325Phe	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	357	161	NM_173615	0	0	0	0	0	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060269	0.76074	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.13420	2.59	5.49	5.49	0.81192	.	0.239385	0.29722	N	0.011374	T	0.36054	0.0953	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.10800	-1.0614	10	0.87932	D	0	.	12.9759	0.58537	1.0:0.0:0.0:0.0	.	325	A6NCI4	VWA3A_HUMAN	F	225;325	ENSP00000374049:Y325F	ENSP00000308827:Y225F	Y	+	2	0	VWA3A	22035982	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.339000	0.59322	2.085000	0.62840	0.533000	0.62120	TAC	.		0.562	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			T	22128481	A	T	22128481	3	4	49	1	0	0	0	0	1	0	0	0	17289	391	14	5	1016	5	VWA3A	16	22128481	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	2084732	22128481	68226272	252	10276											
GTF3C1	2975	broad.mit.edu	37	chr16	27512657	27512657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgatccatgatcatcTtctgaatcctgggcatcaca	6	13	5	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:27512657T>G	ENST00000356183.4	-	12	1931	c.1916A>C	c.(1915-1917)aAg>aCg	p.K639T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K639T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	639					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						CATGATCATCTTCTGAATCCT	0.517																																					p.K639T		.											.	GTF3C1-94	0			c.A1916C						.						133	123	127					16																	27512657		2197	4300	6497	SO:0001583	missense	2975	exon12			ATCATCTTCTGAA	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.1916A>C	16.37:g.27512657T>G	ENSP00000348510:p.Lys639Thr	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	312	7	NM_001520	0	0	0	0	0	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340987	0.60963	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.42131	0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.82630	2.6	0.48511	D	0.999667	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	T	0.73294	-0.4028	10	0.87932	D	0	-32.7371	15.3486	0.74363	0.0:0.0:0.0:1.0	.	639;639	Q12789;Q12789-3	TF3C1_HUMAN;.	T	639;637	ENSP00000348510:K639T	ENSP00000348510:K639T	K	-	2	0	GTF3C1	27420158	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.460000	0.80816	2.155000	0.67459	0.460000	0.39030	AAG	.		0.517	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		G	27512657	T	G	27512657	3	3	49	1	0	0	0	0	1	0	0	0	6899	1609	56	5	4517	5	GTF3C1	16	27512657	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	5384176	27512657	62842096	253	10277											
APOB48R	55911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr16	28509449	28509449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgtcccaaggagtcgCgtgcacctctcgagaagctc	11	14	2	1	rs186642005		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:28509449C>T	ENST00000431282.1	+	4	2986	c.2976C>T	c.(2974-2976)cgC>cgT	p.R992R	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.R1001R|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.R992R			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	992					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						CAAGGAGTCGCGTGCACCTCT	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		15711	0		0	False		,,,				2504	0				p.R1001R		.											.	APOBR-90	0			c.C3003T						.	C		1,4313		0,1,2156	18	22	20		2976	-9.3	0	16		20	0,8522		0,0,4261	no	coding-synonymous	APOBR	NM_018690.3		0,1,6417	TT,TC,CC		0.0,0.0232,0.0078		992/1089	28509449	1,12835	2157	4261	6418	SO:0001819	synonymous_variant	55911	exon3			GAGTCGCGTGCAC	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.2976C>T	16.37:g.28509449C>T		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	34	15	NM_018690	0	0	1	1	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																				C|0.999;T|0.000		0.687	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		T	28509449	C	T	28509449	2	4	49	1	0	0	0	0	0	0	0	1	786	755	27	1		1	APOB48R	16	28509449	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	996792	28509449	61845304	254	10278											
ATP2A1	487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28909569	28909569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagggtgcccctgagggcGtcatcgaccgctgtaactat	12	13	1	1	rs200092983		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:28909569G>A	ENST00000357084.3	+	14	1828	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V396I|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V521I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	521					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCTGAGGGCGTCATCGACCG	0.597																																					p.V521I		.											.	ATP2A1-93	0			c.G1561A						.						82	86	85					16																	28909569		2197	4300	6497	SO:0001583	missense	487	exon14			GAGGGCGTCATCG		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1561G>A	16.37:g.28909569G>A	ENSP00000349595:p.Val521Ile	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	120	50	NM_004320	0	0	2	2	0	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353869	0.41700	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82619	-1.63;-1.63;-1.63	5.46	5.46	0.80206	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	N	0.05280	-0.08	0.58432	D	0.999999	B;B;B	0.24963	0.115;0.001;0.008	B;B;B	0.20577	0.03;0.02;0.012	T	0.64364	-0.6425	10	0.15499	T	0.54	.	18.0542	0.89358	0.0:0.0:1.0:0.0	.	396;521;521	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	521;521;558;396	ENSP00000349595:V521I;ENSP00000378879:V521I;ENSP00000443101:V396I	ENSP00000349595:V521I	V	+	1	0	ATP2A1	28817070	1.000000	0.71417	0.972000	0.41901	0.624000	0.37722	9.791000	0.99081	2.554000	0.86153	0.655000	0.94253	GTC	G|0.999;A|0.001		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28909569	G	A	28909569	3	1	49	1	0	0	0	0	1	0	0	0	1137	1145	40	1	1615	1	ATP2A1	16	28909569	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	400120	28909569	61445184	255	10279											
LAT	27040	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	28996226	28996227	+	5'Flank	INS	-	-	G													caggtggctgtccccgtcttINSggggggggccagcagaccct							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:28996226_28996227insG	ENST00000360872.5	+	0	0				LAT_ENST00000395461.3_Frame_Shift_Ins_p.LG15fs|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000566177.1_5'Flank			O43561	LAT_HUMAN	linker for activation of T cells						blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				GTCCCCGTCTTGGGGGGGGCCA	0.723																																					p.L15fs		.											.	LAT-44	0			c.44_45insG						.																																			SO:0001631	upstream_gene_variant	27040	exon1			CCGTCTTGGGGGG	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761		16.37:g.28996234_28996234dupG	Exception_encountered	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	58	24	NM_001014989	0	0	0	0	0	B7WPI0|C7C5T6|G5E9K3|O43919	Frame_Shift_Ins	INS	ENST00000360872.5	37	CCDS10647.1																																																																																			.		0.723	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			G	28996227	-	G	28996226	6	5	49	0	1	1	1	0	0	0	0	0	8672	1821	63	0		0	LAT	16	28996226	5'Flank	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	86657	28996226	61358527	256	10280											
BCL7C	9274	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	30904237	30904238	+	Frame_Shift_Del	DEL	TC	TC	-													cgacgttcccggccacgggaTctctctgccccgccacctgc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:30904237_30904238delTC	ENST00000215115.4	-	3	1218_1219	c.203_204delGA	c.(202-204)agafs	p.R68fs	MIR762_ENST00000390236.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000380317.4_Frame_Shift_Del_p.R68fs|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000564901.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	68					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GGCCACGGGATCTCTCTGCCCC	0.634																																					p.68_68del		.											.	BCL7C-227	0			c.203_204del						.																																			SO:0001589	frameshift_variant	9274	exon3			ACGGGATCTCTCT	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.203_204delGA	16.37:g.30904241_30904242delTC	ENSP00000215115:p.Arg68fs	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	47	22	NM_004765	0	0	0	0	0	O43770|Q6PD89	Frame_Shift_Del	DEL	ENST00000215115.4	37	CCDS10693.1																																																																																			.		0.634	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		-	30904238	TC	-	30904237	7	5	49	1	0	1	0	1	0	0	0	0	1381	1432	50	0	465	0	BCL7C	16	30904237	Frame_Shift_Del	DEL	TC	TCGA-OR-A5LB-01A-11D-A29I-10	1908011	30904237	59450516	257	10281											
WDR59	79726	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	74937919	74937919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggctcccactgtataaacGaaggttcccaggggcctctg	13	12	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:74937919G>A	ENST00000262144.6	-	18	1922	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	598										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTGTATAAACGAAGGTTCCCA	0.522																																					p.R598C		.											.	WDR59-92	0			c.C1792T						.						56	53	54					16																	74937919		2198	4300	6498	SO:0001583	missense	79726	exon18			ATAAACGAAGGTT	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1792C>T	16.37:g.74937919G>A	ENSP00000262144:p.Arg598Cys	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	73	60	NM_030581	0	0	1	6	5	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497286	0.64186	.	.	ENSG00000103091	ENST00000262144	T	0.69306	-0.39	5.64	5.64	0.86602	.	0.050405	0.85682	D	0.000000	T	0.79724	0.4495	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.72338	0.719;0.977	T	0.79732	-0.1680	10	0.59425	D	0.04	-16.9312	19.7097	0.96089	0.0:0.0:1.0:0.0	.	598;43	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	C	598	ENSP00000262144:R598C	ENSP00000262144:R598C	R	-	1	0	WDR59	73495420	1.000000	0.71417	0.751000	0.31187	0.688000	0.40055	4.871000	0.63042	2.664000	0.90586	0.460000	0.39030	CGT	.		0.522	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		A	74937919	G	A	74937919	3	1	49	1	0	0	0	0	1	0	0	0	17357	1058	37	1	1168	1	WDR59	16	74937919	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	44033682	74937919	15416834	258	10282											
PKD1L2	114780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	81164209	81164209	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggggtccctctgcccGtaggccacgagcagtagcat	14	14	1	0	rs531025677		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr16:81164209G>A	ENST00000534142.1	-	0	286				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTCTGCCCGTAGGCCACGA	0.607													a|||	1	0.000199681	0	0	5008	,	,		18067	0.001		0	False		,,,				2504	0				.		.											.	PKD1L2-92	0			.						.						36	41	39					16																	81164209		2060	4198	6258			114780	.			CTGCCCGTAGGCC	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.81164209G>A		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	123	50	.	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																				.		0.607	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			A	81164209	G	A	81164209	1	1	49	0	1	0	0	0	0	0	0	0	12004	1140	40	1		1	PKD1L2	16	81164209	RNA	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	6226290	81164209	9190544	259	10283											
ZZEF1	23140	bcgsc.ca	37	chr17	3926110	3926110	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaagtagcacggatctcctCaaaaccgtgagcctgccaag	10	12	2	1	rs711177	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:3926110C>G	ENST00000381638.2	-	44	7229	c.7105G>C	c.(7105-7107)Gag>Cag	p.E2369Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2369			E -> Q (in dbSNP:rs711177). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9455477}.				calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGGATCTCCTCAAAACCGTGA	0.478													C|||	718	0.143371	0.2504	0.1311	5008	,	,		21530	0.0724		0.0706	False		,,,				2504	0.1554				p.E2369Q		.											.	ZZEF1-93	0			c.G7105C						.	C	GLN/GLU	1179,3227	413.3+/-336.4	161,857,1185	80	72	75		7105	5	1	17	dbSNP_86	75	497,8103	143.0+/-199.1	15,467,3818	yes	missense	ZZEF1	NM_015113.3	29	176,1324,5003	GG,GC,CC		5.7791,26.759,12.8864	benign	2369/2962	3926110	1676,11330	2203	4300	6503	SO:0001583	missense	23140	exon44			TCTCCTCAAAACC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7105G>C	17.37:g.3926110C>G	ENSP00000371051:p.Glu2369Gln	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	136	5	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	264	0.12087912087912088	121	0.2459349593495935	45	0.12430939226519337	38	0.06643356643356643	60	0.079155672823219	C	19.67	3.871784	0.72180	0.26759	0.057791	ENSG00000074755	ENST00000381638	T	0.26810	1.71	5.96	4.97	0.65823	.	0.163737	0.52532	N	0.000067	T	0.00012	0.0000	N	0.19112	0.55	0.21499	P	0.999669417	B	0.27498	0.18	B	0.23150	0.044	T	0.37842	-0.9688	9	0.42905	T	0.14	-13.283	11.0647	0.47968	0.0:0.6898:0.2439:0.0664	rs711177;rs3816483;rs17763614;rs711177	2369	O43149	ZZEF1_HUMAN	Q	2369	ENSP00000371051:E2369Q	ENSP00000371051:E2369Q	E	-	1	0	ZZEF1	3872859	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.495000	0.53280	1.472000	0.48140	0.655000	0.94253	GAG	C|0.870;G|0.130		0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		G	3926110	C	G	3926110	3	3	49	1	0	0	0	0	1	0	0	0	18303	835	29	3	1828	3	ZZEF1	17	3926110	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		3926110	77269100	260	10284											
SMTNL2	342527	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	4497117	4497119	+	Splice_Site	DEL	AGA	AGA	-													tctccctctctcttccacagAgaagaattcctctttcacgt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:4497117_4497119delAGA	ENST00000389313.4	+	4	798_800	c.731_733delAGA	c.(730-735)gagaag>gag	p.K245del	SMTNL2_ENST00000338859.4_Splice_Site_p.K101del	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	245										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TCTTCCACAGAGAAGAATTCCTC	0.576																																					p.244_245del		.											.	SMTNL2-90	0			c.731_733del						.																																			SO:0001630	splice_region_variant	342527	exon4			CCACAGAGAAGAA	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.731-1AGA>-	17.37:g.4497120_4497122delAGA		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	69	16	NM_001114974	0	0	0	0	0	Q6ZVK6	In_Frame_Del	DEL	ENST00000389313.4	37	CCDS45583.1																																																																																			.		0.576	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501	In_Frame_Del	-	4497119	AGA	-	4497117	8	5	49	1	0	1	0	1	0	0	1	0	14861	318	11	0	745	0	SMTNL2	17	4497117	Splice_Site	DEL	AGA	TCGA-OR-A5LB-01A-11D-A29I-10	571007	4497117	76698093	261	10285											
ACAP1	9744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7251702	7251702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcctgagattcgagggcGaagaggtggccgggggcgcc	20	10	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:7251702G>A	ENST00000158762.3	+	17	1792	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	529	Prevents interaction with ITGB1 when S- 554 is not phosphorylated.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						ATTCGAGGGCGAAGAGGTGGC	0.627																																					p.R529Q		.											.	ACAP1-153	0			c.G1586A						.						30	21	24					17																	7251702		2203	4299	6502	SO:0001583	missense	9744	exon17			GAGGGCGAAGAGG	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1586G>A	17.37:g.7251702G>A	ENSP00000158762:p.Arg529Gln	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	88	77	NM_014716	0	0	0	0	0	Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626579	0.87560	.	.	ENSG00000072818	ENST00000158762	T	0.73258	-0.73	5.22	5.22	0.72569	.	1.584270	0.03264	N	0.183727	T	0.66287	0.2774	N	0.22421	0.69	0.80722	D	1	D	0.56746	0.977	P	0.47102	0.537	T	0.56896	-0.7903	10	0.12430	T	0.62	.	14.1553	0.65413	0.0:0.0:1.0:0.0	.	529	Q15027	ACAP1_HUMAN	Q	529	ENSP00000158762:R529Q	ENSP00000158762:R529Q	R	+	2	0	ACAP1	7192426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.452000	0.44961	2.720000	0.93068	0.655000	0.94253	CGA	.		0.627	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		A	7251702	G	A	7251702	3	1	49	1	0	0	0	0	1	0	0	0	118	1058	37	1	1652	1	ACAP1	17	7251702	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2754585	7251702	73943508	262	10286											
NLGN2	57555	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7318830	7318830	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaccccttctccccagCtaccacatcgcctttgggcc	6	21	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:7318830C>T	ENST00000302926.2	+	6	1111	c.1038C>T	c.(1036-1038)cgC>cgT	p.R346R	NLGN2_ENST00000575301.1_Splice_Site_p.R346R	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	346					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TTCTCCCCAGCTACCACATCG	0.602																																					p.R346R		.											.	NLGN2-90	0			c.C1038T						.						74	55	61					17																	7318830		2203	4300	6503	SO:0001630	splice_region_variant	57555	exon6			CCCCAGCTACCAC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1038-1C>T	17.37:g.7318830C>T		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	224	12	NM_020795	0	0	0	0	0	Q9P2I1	Silent	SNP	ENST00000302926.2	37	CCDS11103.1																																																																																			.		0.602	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795	Silent	T	7318830	C	T	7318830	5	4	49	1	0	0	0	0	0	0	1	0	10501	811	28	3	1060	3	NLGN2	17	7318830	Splice_Site	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	67128	7318830	73876380	263	10287											
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	12649333	12649333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagtttttctggacaaActggtgtctcttctttcaaa	6	8	4	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:12649333A>G	ENST00000343344.4	+	9	1069	c.1069A>G	c.(1069-1071)Act>Gct	p.T357A	MYOCD_ENST00000425538.1_Missense_Mutation_p.T357A|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.T261A			Q8IZQ8	MYCD_HUMAN	myocardin	357					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCTGGACAAACTGGTGTCTC	0.413																																					p.T357A		.											.	MYOCD-93	0			c.A1069G						.						137	131	133					17																	12649333		2203	4300	6503	SO:0001583	missense	93649	exon9			GGACAAACTGGTG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1069A>G	17.37:g.12649333A>G	ENSP00000341835:p.Thr357Ala	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	98	94	NM_001146312	0	0	0	0	0	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381026	0.42207	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.45276	0.91;0.9	5.71	5.71	0.89125	.	0.193389	0.56097	D	0.000034	T	0.23410	0.0566	N	0.17082	0.46	0.39750	D	0.971876	B;B;B;B	0.30870	0.298;0.292;0.162;0.101	B;B;B;B	0.27380	0.036;0.079;0.058;0.026	T	0.15464	-1.0436	10	0.41790	T	0.15	-9.3687	5.3408	0.15982	0.7626:0.0:0.0813:0.1561	.	76;261;357;357	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	A	76;357;357;261;62	ENSP00000341835:T357A;ENSP00000400148:T62A	ENSP00000341835:T357A	T	+	1	0	MYOCD	12590058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.805000	0.55575	2.184000	0.69523	0.459000	0.35465	ACT	.		0.413	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		G	12649333	A	G	12649333	3	3	49	1	0	0	0	0	1	0	0	0	10125	43	2	4	1103	4	MYOCD	17	12649333	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	5330503	12649333	68545877	264	10288											
SLFN12	55106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33747391	33747391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcacctcttcatatgaaCtggaaaattcttaaaaacaa	4	8	4	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:33747391C>T	ENST00000394562.1	-	5	1572	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	SLFN12_ENST00000452764.3_Missense_Mutation_p.S350N|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Missense_Mutation_p.S350N			Q8IYM2	SLN12_HUMAN	schlafen family member 12	350							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)		TTCATATGAACTGGAAAATTC	0.373																																					p.S350N		.											.	SLFN12-91	0			c.G1049A						.						87	84	85					17																	33747391		2203	4300	6503	SO:0001583	missense	55106	exon3			TATGAACTGGAAA	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.1049G>A	17.37:g.33747391C>T	ENSP00000378063:p.Ser350Asn	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	73	59	NM_018042	0	0	0	1	1	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	C	0.322	-0.961459	0.02249	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03801	3.8;3.8;3.8	1.67	-0.621	0.11564	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.48514	-0.9029	9	0.16896	T	0.51	.	2.7881	0.05379	0.0:0.4894:0.3054:0.2052	.	350	Q8IYM2	SLN12_HUMAN	N	350	ENSP00000378063:S350N;ENSP00000302077:S350N;ENSP00000394903:S350N	ENSP00000302077:S350N	S	-	2	0	SLFN12	30771504	0.001000	0.12720	0.017000	0.16124	0.004000	0.04260	0.565000	0.23578	-0.129000	0.11620	-0.324000	0.08512	AGT	.		0.373	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		T	33747391	C	T	33747391	3	4	49	1	0	0	0	0	1	0	0	0	14779	565	20	3	695	3	SLFN12	17	33747391	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	21098058	33747391	47447819	265	10289											
C17orf66	256957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	34191866	34191866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggagatggaacattttgaTgtgggtttgatgtacctctt	13	4	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:34191866T>A	ENST00000311880.2	-	4	497	c.349A>T	c.(349-351)Atc>Ttc	p.I117F	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		117					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AACATTTTGATGTGGGTTTGA	0.478																																					p.I117F		.											.	C17orf66-155	0			c.A349T						.						291	262	272					17																	34191866		2203	4300	6503	SO:0001583	missense	256957	exon4			TTTTGATGTGGGT																												ENST00000311880.2:c.349A>T	17.37:g.34191866T>A	ENSP00000309560:p.Ile117Phe	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	241	215	NM_152781	0	0	0	0	0	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800749	0.31869	.	.	ENSG00000172653	ENST00000311880	T	0.52295	0.67	4.69	-7.12	0.01537	.	1.806760	0.02716	N	0.113512	T	0.29093	0.0723	L	0.29908	0.895	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.12837	0.008;0.004	T	0.11941	-1.0567	10	0.56958	D	0.05	.	1.1016	0.01685	0.2228:0.1567:0.3564:0.2641	.	83;117	A2RTY3-4;A2RTY3	.;CQ066_HUMAN	F	117	ENSP00000309560:I117F	ENSP00000309560:I117F	I	-	1	0	C17orf66	31215979	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.363000	0.07593	-1.541000	0.01727	-0.256000	0.11100	ATC	.		0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			A	34191866	T	A	34191866	3	1	49	1	0	0	0	0	1	0	0	0	1880	1464	51	5	1411	5	C17orf66	17	34191866	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	444475	34191866	47003344	266	10290											
MPP3	4356	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	41879215	41879215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccggtctatgaaggcggCagaagcggccatctcttgct	13	11	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:41879215C>T	ENST00000398389.4	-	20	1777	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	MPP3_ENST00000398393.1_Missense_Mutation_p.A563T	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	538	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ATGAAGGCGGCAGAAGCGGCC	0.527																																					p.A538T		.											.	MPP3-91	0			c.G1612A						.						75	72	73					17																	41879215		1935	4146	6081	SO:0001583	missense	4356	exon20			AGGCGGCAGAAGC		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1612G>A	17.37:g.41879215C>T	ENSP00000381425:p.Ala538Thr	Somatic	46	1		WXS	Illumina GAIIx	Phase_I	50	44	NM_001932	0	0	0	0	0	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578192	0.86645	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.44482	0.92;0.92	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.68096	-0.5499	10	0.66056	D	0.02	.	16.2504	0.82481	0.0:1.0:0.0:0.0	.	538;563	Q13368;D3DX46	MPP3_HUMAN;.	T	563;538	ENSP00000381430:A563T;ENSP00000381425:A538T	ENSP00000381425:A538T	A	-	1	0	MPP3	39234741	1.000000	0.71417	0.995000	0.50966	0.328000	0.28507	6.708000	0.74660	2.826000	0.97356	0.563000	0.77884	GCC	.		0.527	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		T	41879215	C	T	41879215	3	4	49	1	0	0	0	0	1	0	0	0	9773	710	25	3	149	3	MPP3	17	41879215	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	7687349	41879215	39315995	267	10291											
MAP3K14	100133991	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	43347830	43347830	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccgctgcagacacgCggtggatgggctctttcctc	12	15	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:43347830C>T	ENST00000585780.1	+	0	4950				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA					MAP3K14 antisense RNA 1																		TGCAGACACGCGGTGGATGGG	0.662																																					.		.											.	MAP3K14-1453	0			.						.						38	43	41					17																	43347830		2003	4154	6157			9020	.			GACACGCGGTGGA	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43347830C>T		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	143	70	.	0	0	0	7	7		RNA	SNP	ENST00000585780.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.310799	0.95629	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.53	5.53	0.82687	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	0.90280	0.6960	H	0.97214	3.96	0.44417	D	0.997332	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93472	0.6820	8	0.87932	D	0	.	18.4439	0.90677	0.0:1.0:0.0:0.0	.	641;171	Q99558;Q6ZMZ1	M3K14_HUMAN;.	H	640	.	ENSP00000342059:R640H	R	-	2	0	MAP3K14	40703613	0.994000	0.37717	0.884000	0.34674	0.010000	0.07245	7.453000	0.80700	2.587000	0.87381	0.561000	0.74099	CGC	.		0.662	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		T	43347830	C	T	43347830	1	4	49	0	1	0	0	0	0	0	0	0	9286	768	27	1		1	MAP3K14	17	43347830	RNA	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1468615	43347830	37847380	268	10292											
HOXB13	10481	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	46805884	46805884	+	Frame_Shift_Del	DEL	C	C	-													gagtgggcgaccagattccgCccccctcccgctcccagcaa							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:46805884delC	ENST00000290295.7	-	1	656	c.72delG	c.(70-72)gggfs	p.G24fs		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	24					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.G24G(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCAGATTCCGCCCCCCTCCCG	0.657																																					p.G24fs		.											.	HOXB13-514	1	Substitution - coding silent(1)	kidney(1)	c.72delG						.						20	23	22					17																	46805884		2203	4296	6499	SO:0001589	frameshift_variant	10481	exon1			ATTCCGCCCCCCT	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.72delG	17.37:g.46805884delC	ENSP00000290295:p.Gly24fs	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	133	111	NM_006361	0	0	0	0	0	B2R878|Q96QM4|Q99810	Frame_Shift_Del	DEL	ENST00000290295.7	37	CCDS11536.1																																																																																			.		0.657	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		-	46805884	C	-	46805884	7	5	49	1	0	1	0	1	0	0	0	0	7327	726	26	0	790	0	HOXB13	17	46805884	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	3458054	46805884	34389326	269	10293											
NGFR	4804	hgsc.bcm.edu	37	chr17	47583762	47583762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccgtgcgtggaggccgacGacgccgtgtgccgctgcgcc	17	16	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:47583762G>A	ENST00000172229.3	+	3	435	c.310G>A	c.(310-312)Gac>Aac	p.D104N	NGFR_ENST00000504201.1_Missense_Mutation_p.D10N|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	104					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GGAGGCCGACGACGCCGTGTG	0.711																																					p.D104N		.											.	NGFR-947	0			c.G310A						.						16	17	17					17																	47583762		2187	4249	6436	SO:0001583	missense	4804	exon3			GCCGACGACGCCG	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.310G>A	17.37:g.47583762G>A	ENSP00000172229:p.Asp104Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_002507	0	0	0	0	0	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650863	0.96714	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.91631	-2.72;-2.88	5.55	5.55	0.83447	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.042276	0.85682	D	0.000000	D	0.93556	0.7943	M	0.75264	2.295	0.52501	D	0.999953	D	0.67145	0.996	P	0.54431	0.752	D	0.91747	0.5409	10	0.25106	T	0.35	-36.33	13.426	0.61026	0.0763:0.0:0.9237:0.0	.	104	P08138	TNR16_HUMAN	N	104;10	ENSP00000172229:D104N;ENSP00000421731:D10N	ENSP00000172229:D104N	D	+	1	0	NGFR	44938761	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	7.684000	0.84104	2.590000	0.87494	0.561000	0.74099	GAC	.		0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			A	47583762	G	A	47583762	3	1	49	1	0	0	0	0	1	0	0	0	10435	1058	37	1	320	1	NGFR	17	47583762	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	777878	47583762	33611448	270	10294											
PCTP	58488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	53851112	53851112	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttcggcagcggcgagacCtggacatggaagggaggaag	17	9	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:53851112C>G	ENST00000268896.5	+	4	492	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V	PCTP_ENST00000576183.1_Missense_Mutation_p.L123V|PCTP_ENST00000325214.6_Missense_Mutation_p.L51V|PCTP_ENST00000573500.1_Missense_Mutation_p.L123V|PCTP_ENST00000576221.1_3'UTR	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	123	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)			GCGGCGAGACCTGGACATGGA	0.562																																					p.L123V		.											.	PCTP-91	0			c.C367G						.						87	59	68					17																	53851112		2203	4300	6503	SO:0001583	missense	58488	exon4			CGAGACCTGGACA	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.367C>G	17.37:g.53851112C>G	ENSP00000268896:p.Leu123Val	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	158	143	NM_021213	0	0	0	4	4	Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701925	0.48307	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T	0.49139	0.79	5.93	2.72	0.32119	Lipid-binding START (3);START-like domain (1);	0.184307	0.38058	N	0.001832	T	0.30916	0.0780	L	0.35414	1.06	0.47308	D	0.999381	B	0.21452	0.056	B	0.24269	0.052	T	0.05053	-1.0909	10	0.15499	T	0.54	-0.0172	6.8663	0.24094	0.3094:0.6096:0.0:0.0809	.	123	Q9UKL6	PPCT_HUMAN	V	123;51;102	ENSP00000268896:L123V	ENSP00000268896:L123V	L	+	1	2	PCTP	51206111	0.572000	0.26668	0.719000	0.30619	0.230000	0.25150	1.095000	0.30964	0.829000	0.34733	0.655000	0.94253	CTG	.		0.562	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		G	53851112	C	G	53851112	3	3	49	1	0	0	0	0	1	0	0	0	11646	680	24	3	381	3	PCTP	17	53851112	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	6267350	53851112	27344098	271	10295											
ANKFN1	162282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	54543810	54543810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtcaccatcagggaggtgGagatgctttattcatttttt	10	6	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:54543810G>A	ENST00000318698.2	+	14	1695	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	ANKFN1_ENST00000566473.2_Missense_Mutation_p.E554K	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	554										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGGGAGGTGGAGATGCTTTA	0.413																																					p.E554K		.											.	ANKFN1-136	0			c.G1660A						.						124	110	115					17																	54543810		2203	4300	6503	SO:0001583	missense	162282	exon14			GAGGTGGAGATGC	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.1660G>A	17.37:g.54543810G>A	ENSP00000321627:p.Glu554Lys	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	191	10	NM_153228	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820286	0.32145	.	.	ENSG00000153930	ENST00000318698	T	0.21031	2.03	5.69	5.69	0.88448	.	0.093215	0.64402	D	0.000001	T	0.16428	0.0395	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.08827	-1.0703	10	0.02654	T	1	-12.5869	19.8199	0.96589	0.0:0.0:1.0:0.0	.	554	Q8N957	ANKF1_HUMAN	K	554	ENSP00000321627:E554K	ENSP00000321627:E554K	E	+	1	0	ANKFN1	51898809	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	GAG	.		0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54543810	G	A	54543810	3	1	49	1	0	0	0	0	1	0	0	0	625	1175	41	3	1714	3	ANKFN1	17	54543810	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	692698	54543810	26651400	272	10296											
PRKCA	5578	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr17	64731690	64731690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgattcaggatgatgaCgtggagtgcaccatggtaga	16	5	1	4	rs541892161		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:64731690C>T	ENST00000413366.3	+	10	1166	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			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)	AGGATGATGACGTGGAGTGCA	0.517													C|||	1	0.000199681	0	0	5008	,	,		21641	0		0	False		,,,				2504	0.001				p.D380D		.											.	PRKCA-1404	0			c.C1140T						.						238	193	208					17																	64731690		2203	4300	6503	SO:0001819	synonymous_variant	5578	exon10			TGATGACGTGGAG		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.1140C>T	17.37:g.64731690C>T		Somatic	276	2		WXS	Illumina GAIIx	Phase_I	249	228	NM_002737	0	0	0	4	4	B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																			.		0.517	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			T	64731690	C	T	64731690	2	4	49	1	0	0	0	0	0	0	0	1	12549	535	19	1		1	PRKCA	17	64731690	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	10187880	64731690	16463520	273	10297											
DNAH17	8632	bcgsc.ca	37	chr17	76497920	76497920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgccagcgttgaggttcccCatgagcagcgtgatgagtac	13	11	0	4	rs690844	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:76497920C>A	ENST00000585328.1	-	34	5341	c.5217G>T	c.(5215-5217)atG>atT	p.M1739I	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.M1731I|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1731	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGGTTCCCCATGAGCAGCG	0.587													A|||	3700	0.738818	0.6823	0.7608	5008	,	,		21036	0.9435		0.6213	False		,,,				2504	0.7096				p.M1742I		.											.	DNAH17-142	0			c.G5226T						.	A	ILE/MET	3042,1334		1083,876,229	145	151	149		5226	-2.5	0.9	17	dbSNP_83	149	5283,3289		1662,1959,665	yes	missense	DNAH17	NM_173628.3	10	2745,2835,894	AA,AC,CC		38.3691,30.4845,35.7044		1742/4463	76497920	8325,4623	2188	4286	6474	SO:0001583	missense	8632	exon34			GTTCCCCATGAGC	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.5217G>T	17.37:g.76497920C>A	ENSP00000465516:p.Met1739Ile	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	120	5	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		1608	0.7362637362637363	333	0.676829268292683	256	0.7071823204419889	539	0.9423076923076923	480	0.633245382585752	A	4.531	0.098492	0.08681	0.695155	0.616309	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22336	1.96	4.65	-2.49	0.06403	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.41536	P	0.011517	.	.	.	.	.	.	T	0.21415	-1.0246	5	0.13853	T	0.58	.	6.3629	0.21439	0.4839:0.2284:0.2877:0.0	rs690844;rs690844	.	.	.	I	1739;1731	ENSP00000374490:M1731I	ENSP00000300671:M1739I	M	-	3	0	DNAH17	74009515	0.001000	0.12720	0.940000	0.37924	0.410000	0.31052	-1.454000	0.02381	-0.505000	0.06568	-2.049000	0.00408	ATG	C|0.273;A|0.727		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76497920	C	A	76497920	3	1	49	1	0	0	0	0	1	0	0	0	4615	594	21	3	8354	3	DNAH17	17	76497920	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	11766230	76497920	4697290	274	10298											
RPTOR	57521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	78933974	78933974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgacggctccatccgcGtctacgacagaaggatggca	13	12	1	2	rs375708825		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:78933974G>A	ENST00000306801.3	+	30	3936	c.3574G>A	c.(3574-3576)Gtc>Atc	p.V1192I	RPTOR_ENST00000544334.2_Missense_Mutation_p.V1034I|CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1192					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						CTCCATCCGCGTCTACGACAG	0.617																																					p.V1192I		.											.	RPTOR-847	0			c.G3574A						.						116	81	93					17																	78933974		2203	4300	6503	SO:0001583	missense	57521	exon30			ATCCGCGTCTACG		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.3574G>A	17.37:g.78933974G>A	ENSP00000307272:p.Val1192Ile	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	211	44	NM_020761	0	0	9	13	4	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271602	0.95429	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.28454	1.61;1.61	5.18	5.18	0.71444	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	0.47377	0.1442	L	0.47716	1.5	0.80722	D	1	D;P	0.57899	0.981;0.931	D;P	0.65010	0.931;0.483	T	0.18777	-1.0326	10	0.23891	T	0.37	.	18.6796	0.91541	0.0:0.0:1.0:0.0	.	1034;1192	F5H7J5;Q8N122	.;RPTOR_HUMAN	I	1192;1034	ENSP00000307272:V1192I;ENSP00000442479:V1034I	ENSP00000307272:V1192I	V	+	1	0	RPTOR	76548569	1.000000	0.71417	0.956000	0.39512	0.892000	0.51952	7.388000	0.79795	2.418000	0.82041	0.462000	0.41574	GTC	.		0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		A	78933974	G	A	78933974	3	1	49	1	0	0	0	0	1	0	0	0	13710	1145	40	1	3692	1	RPTOR	17	78933974	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2436054	78933974	2261236	275	10299											
RAB40B	10966	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	80616520	80616520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcctgggcctgctccgTgggcacctgccgcttgaacg	15	14	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr17:80616520T>C	ENST00000571995.1	-	5	543	c.412A>G	c.(412-414)Acg>Gcg	p.T138A	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	138					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTGCTCCGTGGGCACCTGC	0.647																																					p.T138A		.											.	RAB40B-227	0			c.A412G						.						28	31	30					17																	80616520		2203	4299	6502	SO:0001583	missense	10966	exon5			GCTCCGTGGGCAC	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.412A>G	17.37:g.80616520T>C	ENSP00000461785:p.Thr138Ala	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	80	56	NM_006822	0	0	0	6	6	Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282559	0.59867	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000005	T	0.44286	0.1286	L	0.37850	1.14	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.30446	-0.9978	9	0.12103	T	0.63	.	12.9779	0.58547	0.0:0.0:0.0:1.0	.	138	Q12829	RB40B_HUMAN	A	138;172	.	ENSP00000269347:T138A	T	-	1	0	RAB40B	78209809	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	7.788000	0.85771	1.692000	0.51112	0.482000	0.46254	ACG	.		0.647	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			C	80616520	T	C	80616520	3	2	49	1	0	0	0	0	1	0	0	0	12986	1696	59	4	432	4	RAB40B	17	80616520	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	1682546	80616520	578690	276	10300											
MPPE1	65258	broad.mit.edu	37	chr18	11889445	11889445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctgtacatgacttggGtgtctgaacattttctgaaa	9	7	3	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:11889445G>T	ENST00000588072.1	-	5	1656	c.435C>A	c.(433-435)caC>caA	p.H145Q	MPPE1_ENST00000317235.7_Missense_Mutation_p.H145Q|MPPE1_ENST00000344987.7_Missense_Mutation_p.H145Q|MPPE1_ENST00000309976.9_Missense_Mutation_p.H145Q|MPPE1_ENST00000399978.2_Missense_Mutation_p.H145Q	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	145					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CATGACTTGGGTGTCTGAACA	0.493																																					p.H145Q		.											.	MPPE1-90	0			c.C435A						.						126	107	113					18																	11889445		2203	4300	6503	SO:0001583	missense	65258	exon4			ACTTGGGTGTCTG	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.435C>A	18.37:g.11889445G>T	ENSP00000465894:p.His145Gln	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	83	4	NM_001242904	0	0	18	18	0	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	ENST00000588072.1	37	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268894	0.40095	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.77	1.4	0.22301	Calcineurin-like phosphoesterase superfamily domain (1);	0.084454	0.85682	D	0.000000	T	0.28134	0.0694	L	0.59436	1.845	0.44771	D	0.99777	D;D;D;D;D;P	0.89917	1.0;0.999;0.998;0.998;0.999;0.772	D;D;D;D;D;P	0.75484	0.986;0.952;0.977;0.969;0.977;0.526	T	0.15009	-1.0452	10	0.15952	T	0.53	-8.7791	6.7945	0.23717	0.5718:0.0:0.4282:0.0	.	145;145;48;145;145;145	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	Q	145;145;48;145;145	ENSP00000327257:H145Q;ENSP00000311200:H145Q;ENSP00000312935:H48Q;ENSP00000339423:H145Q;ENSP00000382860:H145Q	ENSP00000311200:H145Q	H	-	3	2	MPPE1	11879445	1.000000	0.71417	0.968000	0.41197	0.620000	0.37586	1.422000	0.34826	0.447000	0.26695	-0.768000	0.03414	CAC	.		0.493	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		T	11889445	G	T	11889445	3	4	49	1	0	0	0	0	1	0	0	0	9778	1252	44	3	783	3	MPPE1	18	11889445	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		11889445	66187803	277	10301											
ABHD3	171586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	19244151	19244151	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacatggtgaataactgtcTccaagtcttcagtgttagca	9	8	3	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:19244151T>G	ENST00000289119.2	-	5	735	c.596A>C	c.(595-597)gAg>gCg	p.E199A	ABHD3_ENST00000579875.1_5'UTR|RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Intron	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	199						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						AATAACTGTCTCCAAGTCTTC	0.408																																					p.E199A		.											.	ABHD3-90	0			c.A596C						.						91	81	85					18																	19244151		2203	4300	6503	SO:0001583	missense	171586	exon5			ACTGTCTCCAAGT	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.596A>C	18.37:g.19244151T>G	ENSP00000289119:p.Glu199Ala	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	79	68	NM_138340	0	0	0	2	2	B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942331	0.73672	.	.	ENSG00000158201	ENST00000289119	T	0.10477	2.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	L	0.33624	1.015	0.80722	D	1	P	0.37370	0.592	B	0.37091	0.241	T	0.28138	-1.0053	10	0.18710	T	0.47	-16.63	16.5285	0.84344	0.0:0.0:0.0:1.0	.	199	Q8WU67	ABHD3_HUMAN	A	199	ENSP00000289119:E199A	ENSP00000289119:E199A	E	-	2	0	ABHD3	17498149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.426000	0.80270	2.307000	0.77673	0.528000	0.53228	GAG	.		0.408	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			G	19244151	T	G	19244151	3	3	49	1	0	0	0	0	1	0	0	0	83	1551	54	5	653	5	ABHD3	18	19244151	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	7354706	19244151	58833097	278	10302											
ZNF521	25925	broad.mit.edu;bcgsc.ca	37	chr18	22806811	22806811	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggttggaatctggagtCgtactggacacggaggtata	16	5	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:22806811C>T	ENST00000361524.3	-	4	1219	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	ZNF521_ENST00000584787.1_Silent_p.T137T|ZNF521_ENST00000538137.2_Silent_p.T357T|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	357					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)					AATCTGGAGTCGTACTGGACA	0.572			T	PAX5	ALL																																p.T357T		.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521-275	0			c.G1071A						.						81	77	78					18																	22806811		2203	4300	6503	SO:0001819	synonymous_variant	25925	exon4			TGGAGTCGTACTG	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.1071G>A	18.37:g.22806811C>T		Somatic	68	1		WXS	Illumina GAIIx	Phase_I	73	5	NM_015461	0	0	13	13	0	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																			.		0.572	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22806811	C	T	22806811	2	4	49	1	0	0	0	0	0	0	0	1	18013	871	31	1		1	ZNF521	18	22806811	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	3562660	22806811	55270437	279	10303											
SLC39A6	25800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	33706547	33706547	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggcaaagagcttttcGcttatttttaccagaagcag	10	8	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:33706547G>A	ENST00000590986.1	-	2	713	c.424C>T	c.(424-426)Cga>Tga	p.R142*	SLC39A6_ENST00000269187.5_Nonsense_Mutation_p.R142*|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	142					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						AGAGCTTTTCGCTTATTTTTA	0.483																																					p.R142X		.											.	SLC39A6-92	0			c.C424T						.						114	102	106					18																	33706547		2029	4196	6225	SO:0001587	stop_gained	25800	exon2			CTTTTCGCTTATT	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.424C>T	18.37:g.33706547G>A	ENSP00000465915:p.Arg142*	Somatic	221	1		WXS	Illumina GAIIx	Phase_I	234	203	NM_012319	0	0	0	3	3	B4DR49|B4E224|Q8IXR3|Q96HP5	Nonsense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	G	37	6.338123	0.97485	.	.	ENSG00000141424	ENST00000269187	.	.	.	5.7	2.65	0.31530	.	0.476492	0.20353	N	0.094012	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4407	6.278	0.20991	0.1736:0.0:0.6684:0.158	.	.	.	.	X	142	.	ENSP00000269187:R142X	R	-	1	2	SLC39A6	31960545	0.512000	0.26186	0.894000	0.35097	0.757000	0.42996	1.558000	0.36309	0.774000	0.33427	0.555000	0.69702	CGA	.		0.483	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			A	33706547	G	A	33706547	4	1	49	1	0	0	0	0	0	1	0	0	14667	1095	38	1	1891	1	SLC39A6	18	33706547	Nonsense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	10899736	33706547	44370701	280	10304											
FHOD3	80206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	34289245	34289245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaaaaagagaggcagaaCgagggggtgaacgagaggga	19	3	0	5	rs141915411		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:34289245C>T	ENST00000359247.4	+	14	1848	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	FHOD3_ENST00000445677.1_Silent_p.N595N|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Silent_p.N633N|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Silent_p.N808N	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	616					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)				AGAGGCAGAACGAGGGGGTGA	0.587													C|||	1	0.000199681	0	0	5008	,	,		20005	0		0.001	False		,,,				2504	0				p.N633N		.											.	FHOD3-139	0			c.C1899T						.						62	60	61					18																	34289245		2203	4300	6503	SO:0001819	synonymous_variant	80206	exon15			GCAGAACGAGGGG	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.1848C>T	18.37:g.34289245C>T		Somatic	209	2		WXS	Illumina GAIIx	Phase_I	226	196	NM_025135	0	0	0	13	13	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37																																																																																				C|0.999;T|0.000		0.587	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34289245	C	T	34289245	2	4	49	1	0	0	0	0	0	0	0	1	5905	535	19	1		1	FHOD3	18	34289245	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	582698	34289245	43788003	281	10305											
PIAS2	9063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	44470593	44470593	+	Frame_Shift_Del	DEL	T	T	-													ggacatcataaaagggcagaTtttttaactgcacatcagga							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:44470593delT	ENST00000585916.1	-	2	448	c.449delA	c.(448-450)aatfs	p.N150fs	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Frame_Shift_Del_p.N150fs	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	150	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AAAGGGCAGATTTTTTAACTG	0.423																																					p.N150fs		.											.	PIAS2-662	0			c.449delA						.						85	75	78					18																	44470593		2203	4300	6503	SO:0001589	frameshift_variant	9063	exon2			GGCAGATTTTTTA	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.449delA	18.37:g.44470593delT	ENSP00000465676:p.Asn150fs	Somatic	260	0		WXS	Illumina GAIIx	Phase_I	277	241	NM_173206	0	0	0	0	0	O75927|Q96BT5|Q96KE3	Frame_Shift_Del	DEL	ENST00000585916.1	37	CCDS32824.1																																																																																			.		0.423	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		-	44470593	T	-	44470593	7	5	49	1	0	1	0	1	0	0	0	0	11915	1493	52	0	1543	0	PIAS2	18	44470593	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	10181348	44470593	33606655	282	10306											
ADNP2	22850	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	77893731	77893732	+	Frame_Shift_Del	DEL	TA	TA	-													gtgaatattttaggtgaaacTaaatcatctaggagcgatgt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	TA	TA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr18:77893731_77893732delTA	ENST00000262198.4	+	4	890_891	c.435_436delTA	c.(433-438)actaaafs	p.K146fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	146					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TAGGTGAAACTAAATCATCTAG	0.401																																					p.145_146del		.											.	ADNP2-140	0			c.435_436del						.																																			SO:0001589	frameshift_variant	22850	exon4			TGAAACTAAATCA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.435_436delTA	18.37:g.77893731_77893732delTA	ENSP00000262198:p.Lys146fs	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	103	94	NM_014913	0	0	0	0	0	A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL	ENST00000262198.4	37	CCDS32853.1																																																																																			.		0.401	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		-	77893732	TA	-	77893731	7	5	49	1	0	1	0	1	0	0	0	0	324	1509	53	0	445	0	ADNP2	18	77893731	Frame_Shift_Del	DEL	TA	TCGA-OR-A5LB-01A-11D-A29I-10	33423138	77893731	183517	283	10307											
LMNB2	84823	ucsc.edu;bcgsc.ca	37	chr19	2438488	2438488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactccaggtccttcacaCggccctgggccaccgtaagc	12	16	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:2438488C>T	ENST00000582871.1	-	3	469	c.383G>A	c.(382-384)cGt>cAt	p.R128H	LMNB2_ENST00000325327.3_Missense_Mutation_p.R148H	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	128	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTTCACACGGCCCTGGGC	0.667																																					p.R148H		.											.	LMNB2-290	0			c.G443A						.						30	26	27					19																	2438488		2203	4300	6503	SO:0001583	missense	84823	exon3			TTCACACGGCCCT	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.383G>A	19.37:g.2438488C>T	ENSP00000462730:p.Arg128His	Somatic	320	2		WXS	Illumina GAIIx	Phase_I	806	359	NM_032737	0	0	1	3	2	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	C	18.82	3.705188	0.68615	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.38	4.38	0.52667	Filament (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.71871	2.18	0.80722	D	1	P	0.47910	0.902	P	0.48425	0.577	T	0.71286	-0.4638	9	0.59425	D	0.04	.	15.5124	0.75793	0.0:1.0:0.0:0.0	.	128	Q03252	LMNB2_HUMAN	H	128	.	ENSP00000327054:R128H	R	-	2	0	LMNB2	2389488	1.000000	0.71417	0.912000	0.35992	0.120000	0.20174	6.049000	0.71053	1.983000	0.57843	0.561000	0.74099	CGT	.		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		T	2438488	C	T	2438488	3	4	49	1	0	0	0	0	1	0	0	0	8880	536	19	1	1459	1	LMNB2	19	2438488	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10		2438488	56690495	284	10308											
C19orf28	126321	broad.mit.edu	37	chr19	3547501	3547501	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatggccatgtaggtctgGgacaggttcacgatgagcct	13	9	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:3547501G>T	ENST00000355415.2	-	5	1051	c.882C>A	c.(880-882)tcC>tcA	p.S294S	MFSD12_ENST00000398558.4_Silent_p.S294S|MFSD12_ENST00000389395.3_Silent_p.S294S|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'Flank	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	294					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TGTAGGTCTGGGACAGGTTCA	0.642																																					p.S294S		.											.	.	0			c.C882A						.						48	54	52					19																	3547501		2104	4221	6325	SO:0001819	synonymous_variant	126321	exon5			GGTCTGGGACAGG	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.882C>A	19.37:g.3547501G>T		Somatic	308	0		WXS	Illumina GAIIx	Phase_I	610	10	NM_001042680	0	0	48	48	0	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	CCDS42465.1																																																																																			.		0.642	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		T	3547501	G	T	3547501	2	4	49	1	0	0	0	0	0	0	0	1	1924	1219	43	3		3	C19orf28	19	3547501	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1109013	3547501	55581482	285	10309											
C19orf28	126321	hgsc.bcm.edu	37	chr19	3547981	3547981	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggtgcccaggtggaaTagcagtgagaacacggcgcc	15	12	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:3547981T>G	ENST00000355415.2	-	4	871	c.702A>C	c.(700-702)ctA>ctC	p.L234L	MFSD12_ENST00000398558.4_Silent_p.L234L|MFSD12_ENST00000389395.3_Silent_p.L234L|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	234					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCAGGTGGAATAGCAGTGAGA	0.716																																					p.L234L		.											.	.	0			c.A702C						.						17	22	20					19																	3547981		1984	4124	6108	SO:0001819	synonymous_variant	126321	exon4			GTGGAATAGCAGT	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.702A>C	19.37:g.3547981T>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_001042680	0	0	29	47	18	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	CCDS42465.1																																																																																			.		0.716	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		G	3547981	T	G	3547981	2	3	49	1	0	0	0	0	0	0	0	1	1924	1393	49	5		5	C19orf28	19	3547981	Silent	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	480	3547981	55581002	286	10310											
CHAF1A	10036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4409751	4409751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccacctccacgcccctcCgcagagtgagtatctcccat	6	20	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:4409751C>T	ENST00000301280.5	+	3	1056	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	319					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)		CACGCCCCTCCGCAGAGTGAG	0.632								Chromatin Structure																													p.R319C		.											.	CHAF1A-92	0			c.C955T						.						54	52	52					19																	4409751		2203	4300	6503	SO:0001583	missense	10036	exon3			CCCCTCCGCAGAG	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.955C>T	19.37:g.4409751C>T	ENSP00000301280:p.Arg319Cys	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	117	49	NM_005483	0	0	0	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235826	0.39498	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.05786	3.39	5.78	-5.38	0.02673	.	.	.	.	.	T	0.02571	0.0078	N	0.11560	0.145	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.44065	-0.9352	9	0.87932	D	0	-1.1276	0.6845	0.00880	0.2308:0.2082:0.311:0.25	.	319	Q13111	CAF1A_HUMAN	C	319	ENSP00000301280:R319C	ENSP00000301280:R319C	R	+	1	0	CHAF1A	4360751	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.148000	0.10219	-1.138000	0.02884	0.591000	0.81541	CGC	.		0.632	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4409751	C	T	4409751	3	4	49	1	0	0	0	0	1	0	0	0	3318	652	23	1	965	1	CHAF1A	19	4409751	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	861770	4409751	54719232	287	10311											
KDM4B	23030	hgsc.bcm.edu	37	chr19	5151503	5151503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcaggtgcagggccGgcccggagcccccttctagg	14	17	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:5151503G>T	ENST00000159111.4	+	23	3490	c.3272G>T	c.(3271-3273)cGg>cTg	p.R1091L	KDM4B_ENST00000536461.1_Missense_Mutation_p.R1125L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1091					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						GTGCAGGGCCGGCCCGGAGCC	0.721																																					p.R1091L		.											.	KDM4B-226	0			c.G3272T						.						4	6	5					19																	5151503		2063	4116	6179	SO:0001583	missense	23030	exon23			AGGGCCGGCCCGG	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.3272G>T	19.37:g.5151503G>T	ENSP00000159111:p.Arg1091Leu	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	43	5	NM_015015	0	0	27	27	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936901	0.52972	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.19938	2.13;2.11	4.66	0.881	0.19166	.	0.351996	0.25400	N	0.030952	T	0.13329	0.0323	L	0.36672	1.1	0.29092	N	0.88206	B;B	0.31485	0.325;0.116	B;B	0.26202	0.067;0.044	T	0.10683	-1.0619	10	0.56958	D	0.05	-20.7107	6.8207	0.23855	0.4651:0.0:0.5349:0.0	.	1125;1091	F5GX28;O94953	.;KDM4B_HUMAN	L	1091;1125	ENSP00000159111:R1091L;ENSP00000440495:R1125L	ENSP00000159111:R1091L	R	+	2	0	KDM4B	5102503	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	1.741000	0.38238	0.367000	0.24454	0.448000	0.29417	CGG	.		0.721	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		T	5151503	G	T	5151503	3	4	49	1	0	0	0	0	1	0	0	0	8156	1116	39	2	3354	2	KDM4B	19	5151503	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	741752	5151503	53977480	288	10312											
FUT6	2528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	5831871	5831871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaacttgtaccgggacagCgtctccatcatggttccctg	10	12	2	1	rs141754965		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:5831871C>T	ENST00000318336.4	-	3	1902	c.708G>A	c.(706-708)acG>acA	p.T236T	FUT6_ENST00000527106.1_Silent_p.T236T|FUT6_ENST00000524754.1_Silent_p.T236T|FUT6_ENST00000592563.1_Silent_p.T236T|FUT6_ENST00000286955.5_Silent_p.T236T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	236					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						ACCGGGACAGCGTCTCCATCA	0.632																																					p.T236T		.											.	FUT6-90	0			c.G708A						.	C	,	0,4406		0,0,2203	120	116	117		708,708	-4.2	0	19	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FUT6	NM_000150.2,NM_001040701.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	236/360,236/360	5831871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2528	exon3			GGACAGCGTCTCC		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.708G>A	19.37:g.5831871C>T		Somatic	325	1		WXS	Illumina GAIIx	Phase_I	663	282	NM_000150	0	0	0	0	0	A6NEX0|D6W637|Q9UND8	Silent	SNP	ENST00000318336.4	37	CCDS12152.1																																																																																			C|1.000;T|0.000		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		T	5831871	C	T	5831871	2	4	49	1	0	0	0	0	0	0	0	1	6132	755	27	1		1	FUT6	19	5831871	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	680368	5831871	53297112	289	10313											
PSPN	5623	bcgsc.ca	37	chr19	6375624	6375624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggcaagggggcggtggGtgcctgtgggagggaagggc	26	6	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:6375624G>A	ENST00000245810.1	-	2	151	c.152C>T	c.(151-153)aCc>aTc	p.T51I	PSPN_ENST00000597721.1_Silent_p.H79H	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	51					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						GGGGCGGTGGGTGCCTGTGGG	0.672																																					p.T51I		.											.	PSPN-91	0			c.C152T						.						25	22	23					19																	6375624		2193	4290	6483	SO:0001583	missense	5623	exon2			CGGTGGGTGCCTG	AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"Endogenous ligands"	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.152C>T	19.37:g.6375624G>A	ENSP00000245810:p.Thr51Ile	Somatic	132	4		WXS	Illumina GAIIx	Phase_I	407	200	NM_004158	0	0	4	6	2		Missense_Mutation	SNP	ENST00000245810.1	37	CCDS12164.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.299861	0.23650	.	.	ENSG00000125650	ENST00000245810	D	0.88586	-2.4	2.27	2.27	0.28462	.	.	.	.	.	T	0.74222	0.3688	N	0.08118	0	0.25324	N	0.98909	B	0.34147	0.438	B	0.28638	0.092	T	0.64879	-0.6303	9	0.36615	T	0.2	-19.1332	8.54	0.33386	0.0:0.0:1.0:0.0	.	51	O60542	PSPN_HUMAN	I	51	ENSP00000245810:T51I	ENSP00000245810:T51I	T	-	2	0	PSPN	6326624	0.002000	0.14202	0.045000	0.18777	0.054000	0.15201	0.087000	0.14958	1.189000	0.43028	0.313000	0.20887	ACC	.		0.672	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398032.1	NM_004158		A	6375624	G	A	6375624	3	1	49	1	0	0	0	0	1	0	0	0	12760	1261	44	3	321	3	PSPN	19	6375624	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	543753	6375624	52753359	290	10314											
VAV1	7409	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6822269	6822269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggacctgtatgactgcGtggagaatgaggaggcggaa	17	5	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:6822269G>A	ENST00000602142.1	+	5	569	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	VAV1_ENST00000596764.1_Missense_Mutation_p.V163M|VAV1_ENST00000304076.2_Missense_Mutation_p.V163M|VAV1_ENST00000599806.1_Missense_Mutation_p.V108M|VAV1_ENST00000539284.1_Missense_Mutation_p.V98M	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	163					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTATGACTGCGTGGAGAATGA	0.637																																					p.V163M		.											.	VAV1-1276	0			c.G487A						.						107	78	88					19																	6822269		2202	4298	6500	SO:0001583	missense	7409	exon5			GACTGCGTGGAGA		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.487G>A	19.37:g.6822269G>A	ENSP00000472929:p.Val163Met	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	411	54	NM_005428	0	0	0	0	0	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586731	0.86851	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.56275	0.47;0.47	4.17	4.17	0.49024	Calponin homology domain (1);	0.173491	0.37012	N	0.002297	T	0.70745	0.3259	M	0.76170	2.325	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.999	T	0.73084	-0.4094	10	0.49607	T	0.09	.	14.3548	0.66730	0.0:0.0:1.0:0.0	.	98;163;108;163	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	M	163;98	ENSP00000302269:V163M;ENSP00000443242:V98M	ENSP00000302269:V163M	V	+	1	0	VAV1	6773269	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.000000	0.88501	2.323000	0.78572	0.563000	0.77884	GTG	.		0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			A	6822269	G	A	6822269	3	1	49	1	0	0	0	0	1	0	0	0	17180	1145	40	1	505	1	VAV1	19	6822269	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	446645	6822269	52306714	291	10315											
PNPLA6	10908	hgsc.bcm.edu;broad.mit.edu	37	chr19	7605851	7605851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtctgcccgggcggccCgggactccacggtgctgcgc	16	17	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:7605851C>T	ENST00000221249.6	+	10	1152	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R241W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R241W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R289W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R280W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	280					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGGGCGGCCCGGGACTCCAC	0.692																																					p.R289W		.											.	PNPLA6-47	0			c.C865T						.						12	14	13					19																	7605851		2200	4288	6488	SO:0001583	missense	10908	exon9			GCGGCCCGGGACT	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.721C>T	19.37:g.7605851C>T	ENSP00000221249:p.Arg241Trp	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	203	14	NM_001166111	0	0	10	10	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703911	0.68501	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.28	4.23	0.50019	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.207947	0.39834	N	0.001252	T	0.51873	0.1700	L	0.49126	1.545	0.30101	N	0.807419	D;D;D;D	0.57899	0.981;0.958;0.976;0.958	P;P;P;P	0.58970	0.849;0.764;0.764;0.764	T	0.55354	-0.8154	10	0.72032	D	0.01	.	11.1086	0.48218	0.334:0.666:0.0:0.0	.	280;241;280;241	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	W	241;241;289;178;241	ENSP00000221249:R241W;ENSP00000443323:R241W;ENSP00000407509:R289W;ENSP00000394348:R241W	ENSP00000221249:R241W	R	+	1	2	PNPLA6	7511851	0.022000	0.18835	0.867000	0.34043	0.469000	0.32828	1.979000	0.40608	1.203000	0.43233	0.491000	0.48974	CGG	.		0.692	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7605851	C	T	7605851	3	4	49	1	0	0	0	0	1	0	0	0	12208	643	23	1	895	1	PNPLA6	19	7605851	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	783582	7605851	51523132	292	10316											
TIMM44	10469	broad.mit.edu	37	chr19	7998852	7998852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccggtctgtcccaggaCgctgtcgtcaatttccttct	11	14	3	0	rs147925283		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:7998852C>T	ENST00000270538.3	-	6	848	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	194					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGTCCCAGGACGCTGTCGTCA	0.632													C|||	1	0.000199681	0	0	5008	,	,		16777	0.001		0	False		,,,				2504	0				p.V194I		.											.	TIMM44-91	0			c.G580A						.	C	ILE/VAL	3,4403	8.1+/-20.4	0,3,2200	64	76	72		580	4.2	0.4	19	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TIMM44	NM_006351.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	194/453	7998852	4,13002	2203	4300	6503	SO:0001583	missense	10469	exon6			CCAGGACGCTGTC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.580G>A	19.37:g.7998852C>T	ENSP00000270538:p.Val194Ile	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	109	4	NM_006351	0	0	83	84	1	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792464	0.31685	6.81E-4	1.16E-4	ENSG00000104980	ENST00000270538	T	0.76968	-1.06	5.22	4.17	0.49024	.	0.000000	0.64402	D	0.000003	T	0.73552	0.3601	M	0.65975	2.015	0.31204	N	0.699429	B	0.17038	0.02	B	0.09377	0.004	T	0.72257	-0.4346	10	0.37606	T	0.19	-32.3405	12.0525	0.53515	0.0:0.9126:0.0:0.0874	.	194	O43615	TIM44_HUMAN	I	194	ENSP00000270538:V194I	ENSP00000270538:V194I	V	-	1	0	TIMM44	7904852	0.009000	0.17119	0.354000	0.25760	0.513000	0.34164	1.726000	0.38085	2.454000	0.82982	0.561000	0.74099	GTC	C|0.999;T|0.001		0.632	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			T	7998852	C	T	7998852	3	4	49	1	0	0	0	0	1	0	0	0	15959	536	19	1	810	1	TIMM44	19	7998852	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	393001	7998852	51130131	293	10317											
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8206917	8206917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggaaggccccaggcacGgcccacagtggcacagcaaa	12	14	0	0	rs370751618		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:8206917G>A	ENST00000600128.1	-	7	1060	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	FBN3_ENST00000601739.1_Missense_Mutation_p.R216C|FBN3_ENST00000270509.2_Missense_Mutation_p.R216C			Q75N90	FBN3_HUMAN	fibrillin 3	216	TB 1.					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						CCCCAGGCACGGCCCACAGTG	0.652																																					p.R216C		.											.	FBN3-100	0			c.C646T						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	32	35	34		646	4	0.5	19		34	0,8600		0,0,4300	no	missense	FBN3	NM_032447.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	216/2810	8206917	1,13005	2203	4300	6503	SO:0001583	missense	84467	exon6			AGGCACGGCCCAC		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.646C>T	19.37:g.8206917G>A	ENSP00000470498:p.Arg216Cys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	163	50	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.581381	0.86748	2.27E-4	0.0	ENSG00000142449	ENST00000270509	D	0.93763	-3.28	3.95	3.95	0.45737	Matrix fibril-associated (3);TGF-beta binding (1);	0.079903	0.51477	U	0.000091	D	0.94076	0.8101	L	0.44542	1.39	0.58432	D	0.99999	D	0.76494	0.999	P	0.60609	0.877	D	0.94610	0.7803	10	0.62326	D	0.03	.	15.1368	0.72572	0.0:0.0:1.0:0.0	.	216	Q75N90	FBN3_HUMAN	C	216	ENSP00000270509:R216C	ENSP00000270509:R216C	R	-	1	0	FBN3	8112917	0.996000	0.38824	0.462000	0.27118	0.992000	0.81027	3.679000	0.54634	2.028000	0.59812	0.491000	0.48974	CGT	.		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8206917	G	A	8206917	3	1	49	1	0	0	0	0	1	0	0	0	5726	1116	39	1	8015	1	FBN3	19	8206917	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	208065	8206917	50922066	294	10318											
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	8587291	8587291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcaatgacctcgttcaCgttgaagctcagctcgtcca	8	13	3	2	rs376380813		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:8587291C>T	ENST00000338257.8	-	27	3457	c.3190G>A	c.(3190-3192)Gtg>Atg	p.V1064M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1064	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACCTCGTTCACGTTGAAGCTC	0.622																																					p.V1064M		.											.	MYO1F-93	0			c.G3190A						.	C	MET/VAL	0,4246		0,0,2123	70	73	72		3190	5.5	0.9	19		72	1,8459		0,1,4229	no	missense	MYO1F	NM_012335.3	21	0,1,6352	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	1064/1099	8587291	1,12705	2123	4230	6353	SO:0001583	missense	4542	exon27			CGTTCACGTTGAA	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3190G>A	19.37:g.8587291C>T	ENSP00000344871:p.Val1064Met	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	259	13	NM_012335	0	0	4	4	0	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647973	0.67358	0.0	1.18E-4	ENSG00000142347	ENST00000338257	T	0.31247	1.5	5.5	5.5	0.81552	Src homology-3 domain (5);	.	.	.	.	T	0.41811	0.1175	M	0.61703	1.905	0.53688	D	0.999975	P	0.42123	0.771	P	0.45474	0.482	T	0.24225	-1.0166	9	0.48119	T	0.1	.	18.3775	0.90440	0.0:1.0:0.0:0.0	.	1064	O00160	MYO1F_HUMAN	M	1064	ENSP00000344871:V1064M	ENSP00000344871:V1064M	V	-	1	0	MYO1F	8493291	0.993000	0.37304	0.945000	0.38365	0.699000	0.40488	3.317000	0.51968	2.572000	0.86782	0.650000	0.86243	GTG	.		0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8587291	C	T	8587291	3	4	49	1	0	0	0	0	1	0	0	0	10111	536	19	1	114	1	MYO1F	19	8587291	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	380374	8587291	50541692	295	10319											
ICAM1	3383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10394443	10394443	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaacacctcggccccCtaccagctccagacctttgg	8	16	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:10394443C>A	ENST00000264832.3	+	3	943	c.618C>A	c.(616-618)ccC>ccA	p.P206P	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	206					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)	CCTCGGCCCCCTACCAGCTCC	0.592																																					p.P206P		.											.	ICAM1-91	0			c.C618A						.						17	17	17					19																	10394443		2203	4300	6503	SO:0001819	synonymous_variant	3383	exon3			GGCCCCCTACCAG		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.618C>A	19.37:g.10394443C>A		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	100	39	NM_000201	0	0	2	2	0	B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	CCDS12231.1																																																																																			.		0.592	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			A	10394443	C	A	10394443	2	1	49	1	0	0	0	0	0	0	0	1	7506	668	24	3		3	ICAM1	19	10394443	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1807152	10394443	48734540	296	10320											
S1PR5	53637	broad.mit.edu;bcgsc.ca	37	chr19	10624719	10624719	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcaggagtggcgtccGcagcagaccaggcgcaggag	17	13	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:10624719G>T	ENST00000439028.3	-	2	1094	c.969C>A	c.(967-969)tgC>tgA	p.C323*	S1PR5_ENST00000333430.4_Nonsense_Mutation_p.C323*	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	323					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)	AGTGGCGTCCGCAGCAGACCA	0.706																																					p.C323X		.											.	S1PR5-523	0			c.C969A						.						22	24	23					19																	10624719		2199	4297	6496	SO:0001587	stop_gained	53637	exon2			GCGTCCGCAGCAG	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.969C>A	19.37:g.10624719G>T	ENSP00000416915:p.Cys323*	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	193	6	NM_030760	0	0	0	0	0	Q6NW11	Nonsense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736103	0.69189	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	.	.	.	5.11	-4.22	0.03800	.	0.299750	0.30879	U	0.008689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5494	0.56218	0.6384:0.0:0.3616:0.0	.	.	.	.	X	323	.	ENSP00000328472:C323X	C	-	3	2	S1PR5	10485719	1.000000	0.71417	0.138000	0.22173	0.035000	0.12851	0.573000	0.23699	-0.589000	0.05874	-0.658000	0.03865	TGC	.		0.706	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		T	10624719	G	T	10624719	4	4	49	1	0	0	0	0	0	1	0	0	13842	1079	38	2	231	2	S1PR5	19	10624719	Nonsense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	230276	10624719	48504264	297	10321											
LPHN1	22859	hgsc.bcm.edu;bcgsc.ca	37	chr19	14272167	14272167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaccagcatgccctgCtgggtggccggccactggac	12	17	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:14272167C>T	ENST00000340736.6	-	7	1779	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Silent_p.Q489Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	494					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						GCATGCCCTGCTGGGTGGCCG	0.701																																					p.Q494Q		.											.	LPHN1-523	0			c.G1482A						.						10	12	11					19																	14272167		2170	4251	6421	SO:0001819	synonymous_variant	22859	exon7			GCCCTGCTGGGTG	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.1482G>A	19.37:g.14272167C>T		Somatic	34	0		WXS	Illumina GAIIx	Phase_I	142	64	NM_001008701	0	0	1	4	3	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																			.		0.701	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		T	14272167	C	T	14272167	2	4	49	1	0	0	0	0	0	0	0	1	8950	796	28	3		3	LPHN1	19	14272167	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	3647448	14272167	44856816	298	10322											
CD97	976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14515325	14515325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcaccacctgccaatGcagccacctgagcagctttg	10	16	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:14515325G>A	ENST00000242786.5	+	13	1660	c.1580G>A	c.(1579-1581)tGc>tAc	p.C527Y	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.C478Y|CD97_ENST00000358600.3_Missense_Mutation_p.C434Y	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	527	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCTGCCAATGCAGCCACCTG	0.597																																					p.C527Y		.											.	CD97-570	0			c.G1580A						.						74	63	67					19																	14515325		2203	4300	6503	SO:0001583	missense	976	exon13			GCCAATGCAGCCA		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1580G>A	19.37:g.14515325G>A	ENSP00000242786:p.Cys527Tyr	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	261	54	NM_078481	0	0	1	1	0	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962429	0.92791	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	D;D;D	0.90788	-2.73;-2.73;-2.73	4.85	4.85	0.62838	GPS domain (3);	.	.	.	.	D	0.97155	0.9070	H	0.98178	4.165	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.996;0.999	D	0.98372	1.0554	9	0.87932	D	0	.	15.4798	0.75517	0.0:0.0:1.0:0.0	.	434;478;527	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	Y	527;478;434;477	ENSP00000242786:C527Y;ENSP00000349918:C478Y;ENSP00000351413:C434Y	ENSP00000242786:C527Y	C	+	2	0	CD97	14376325	1.000000	0.71417	0.084000	0.20598	0.604000	0.37047	9.054000	0.93866	2.532000	0.85374	0.561000	0.74099	TGC	.		0.597	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		A	14515325	G	A	14515325	3	1	49	1	0	0	0	0	1	0	0	0	3056	1319	46	3	1630	3	CD97	19	14515325	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	243158	14515325	44613658	299	10323											
EMR2	30817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14854448	14854448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggctgaggaggcagtAcaccaggaagatgaagacac	14	9	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:14854448A>G	ENST00000315576.3	-	19	2783	c.2332T>C	c.(2332-2334)Tac>Cac	p.Y778H	EMR2_ENST00000353005.1_Missense_Mutation_p.Y636H|EMR2_ENST00000595839.1_Missense_Mutation_p.Y636H|EMR2_ENST00000392967.2_Missense_Mutation_p.Y767H|EMR2_ENST00000594294.1_Missense_Mutation_p.Y729H|EMR2_ENST00000353876.1_Missense_Mutation_p.Y685H|EMR2_ENST00000392965.3_Missense_Mutation_p.Y720H|EMR2_ENST00000601345.1_Missense_Mutation_p.Y767H|EMR2_ENST00000346057.1_Missense_Mutation_p.Y729H|EMR2_ENST00000594076.1_Missense_Mutation_p.Y685H|EMR2_ENST00000596991.2_Missense_Mutation_p.Y767H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	778					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGAGGCAGTACACCAGGAAG	0.597																																					p.Y778H		.											.	EMR2-524	0			c.T2332C						.						169	153	158					19																	14854448		2203	4300	6503	SO:0001583	missense	30817	exon19			GGCAGTACACCAG	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2332T>C	19.37:g.14854448A>G	ENSP00000319883:p.Tyr778His	Somatic	245	0		WXS	Illumina GAIIx	Phase_I	454	87	NM_013447	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	8.012	0.757820	0.15846	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	5.21	4.19	0.49359	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.	.	.	.	T	0.33030	0.0849	N	0.16602	0.42	0.80722	D	1	B;B;P;B;B;B;B;B	0.42078	0.09;0.002;0.77;0.006;0.033;0.001;0.019;0.012	B;B;B;B;B;B;B;B	0.40134	0.047;0.016;0.32;0.02;0.048;0.009;0.047;0.065	T	0.38757	-0.9646	9	0.02654	T	1	.	6.5892	0.22638	0.8123:0.0:0.1877:0.0	.	720;685;778;636;729;778;778;767	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	778;767;729;685;636;720	ENSP00000319883:Y778H;ENSP00000376694:Y767H;ENSP00000263380:Y729H;ENSP00000319454:Y685H;ENSP00000319838:Y636H;ENSP00000376692:Y720H	ENSP00000319883:Y778H	Y	-	1	0	EMR2	14715448	1.000000	0.71417	0.961000	0.40146	0.959000	0.62525	2.493000	0.45320	0.835000	0.34877	0.491000	0.48974	TAC	.		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			G	14854448	A	G	14854448	3	3	49	1	0	0	0	0	1	0	0	0	5121	391	14	4	151	4	EMR2	19	14854448	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	339123	14854448	44274535	300	10324											
AKAP8	10270	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	15484604	15484604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccataatcacctctcccGgtcctgtatgccctccccac	6	19	2	0	rs140271912		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:15484604G>A	ENST00000269701.2	-	4	424	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	122					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CACCTCTCCCGGTCCTGTATG	0.637																																					p.R122W	GBM(190;1671 2163 3274 27186 30476)	.											.	AKAP8-290	0			c.C364T						.		TRP/ARG	0,4404		0,0,2202	25	23	24		364	4.8	1	19	dbSNP_134	24	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AKAP8	NM_005858.3	101	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	122/693	15484604	2,13002	2202	4300	6502	SO:0001583	missense	10270	exon4			TCTCCCGGTCCTG	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.364C>T	19.37:g.15484604G>A	ENSP00000269701:p.Arg122Trp	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	78	35	NM_005858	0	0	0	0	0		Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.342897	0.82022	0.0	2.33E-4	ENSG00000105127	ENST00000269701	T	0.48836	0.8	4.82	4.82	0.62117	.	0.150595	0.31450	N	0.007637	T	0.59376	0.2189	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	P	0.60415	0.874	T	0.62905	-0.6755	10	0.72032	D	0.01	-13.1424	15.1765	0.72916	0.0:0.0:1.0:0.0	.	122	O43823	AKAP8_HUMAN	W	122	ENSP00000269701:R122W	ENSP00000269701:R122W	R	-	1	2	AKAP8	15345604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.577000	0.67444	2.392000	0.81423	0.651000	0.88453	CGG	G|1.000;A|0.000		0.637	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		A	15484604	G	A	15484604	3	1	49	1	0	0	0	0	1	0	0	0	457	1115	39	1	1758	1	AKAP8	19	15484604	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	630156	15484604	43644379	301	10325											
OR10H5	284433	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15905080	15905080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgagatcctctacacCgtggccatcatcccgcgcat	7	17	3	1	rs201176627		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:15905080C>T	ENST00000308940.8	+	1	320	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCTACACCGTGGCCATCA	0.612																																					p.T74T		.											.	OR10H5-69	0			c.C222T						.	C		0,4406		0,0,2203	158	129	139		222	-4	0	19		139	1,8599		0,1,4299	no	coding-synonymous	OR10H5	NM_001004466.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		74/316	15905080	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284433	exon1			CTACACCGTGGCC	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.222C>T	19.37:g.15905080C>T		Somatic	338	3		WXS	Illumina GAIIx	Phase_I	766	330	NM_001004466	0	0	0	0	0	Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	CCDS32940.1																																																																																			C|0.999;T|0.001		0.612	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			T	15905080	C	T	15905080	2	4	49	1	0	0	0	0	0	0	0	1	10948	639	23	1		1	OR10H5	19	15905080	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	420476	15905080	43223903	302	10326											
SLC5A5	6528	broad.mit.edu;bcgsc.ca	37	chr19	17994831	17994831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccggctctcctccctgCtaacgactccagcagggccc	10	19	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:17994831C>T	ENST00000222248.3	+	12	1849	c.1502C>T	c.(1501-1503)gCt>gTt	p.A501V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	501					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCCTCCCTGCTAACGACTCC	0.642																																					p.A501V	Melanoma(65;1008 1708 7910 46650)	.											.	SLC5A5-93	0			c.C1502T						.						8	7	8					19																	17994831		2184	4266	6450	SO:0001583	missense	6528	exon12			TCCCTGCTAACGA		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1502C>T	19.37:g.17994831C>T	ENSP00000222248:p.Ala501Val	Somatic	68	2		WXS	Illumina GAIIx	Phase_I	162	76	NM_000453	0	0	0	0	0	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689512	0.14973	.	.	ENSG00000105641	ENST00000222248	D	0.85171	-1.95	4.43	0.741	0.18336	.	4.969260	0.01041	N	0.004309	T	0.75199	0.3817	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.55982	-0.8054	10	0.20519	T	0.43	.	2.7012	0.05149	0.1895:0.5217:0.1841:0.1048	.	501	Q92911	SC5A5_HUMAN	V	501	ENSP00000222248:A501V	ENSP00000222248:A501V	A	+	2	0	SLC5A5	17855831	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	-1.102000	0.03332	0.420000	0.25954	0.555000	0.69702	GCT	.		0.642	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	17994831	C	T	17994831	3	4	49	1	0	0	0	0	1	0	0	0	14713	797	28	3	1548	3	SLC5A5	19	17994831	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2089751	17994831	41134152	303	10327											
ARRDC2	27106	broad.mit.edu	37	chr19	18119374	18119374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggtcgtgagccaccgCgccacgctcctggcgccagg	16	15	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:18119374C>T	ENST00000222250.4	+	1	398	c.255C>T	c.(253-255)cgC>cgT	p.R85R	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	85					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGAGCCACCGCGCCACGCTCC	0.697																																					p.R85R		.											.	ARRDC2-91	0			c.C255T						.						12	14	13					19																	18119374		2191	4279	6470	SO:0001819	synonymous_variant	27106	exon1			CCACCGCGCCACG		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.255C>T	19.37:g.18119374C>T		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	30	4	NM_015683	0	0	10	12	2	B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	CCDS12370.1																																																																																			.		0.697	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		T	18119374	C	T	18119374	2	4	49	1	0	0	0	0	0	0	0	1	984	755	27	1		1	ARRDC2	19	18119374	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	124543	18119374	41009609	304	10328											
TMEM161A	54929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19243492	19243492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccacggtcgtgagggggCaggtctccagctggaacggg	17	11	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:19243492C>A	ENST00000162044.9	-	4	324	c.260G>T	c.(259-261)tGc>tTc	p.C87F	TMEM161A_ENST00000587583.2_Missense_Mutation_p.C87F|TMEM161A_ENST00000450333.2_Missense_Mutation_p.C87F|TMEM161A_ENST00000592147.1_5'UTR	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	87					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CGTGAGGGGGCAGGTCTCCAG	0.617																																					p.C87F		.											.	TMEM161A-154	0			c.G260T						.						81	60	68					19																	19243492		2203	4300	6503	SO:0001583	missense	54929	exon4			AGGGGGCAGGTCT	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.260G>T	19.37:g.19243492C>A	ENSP00000162044:p.Cys87Phe	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	119	20	NM_001256766	0	0	122	152	30	B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401835	0.25291	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.31	3.25	0.37280	.	0.325571	0.34603	N	0.003836	T	0.37839	0.1018	N	0.22421	0.69	0.32043	N	0.598034	P;P;D	0.55385	0.924;0.938;0.971	P;P;P	0.55161	0.461;0.477;0.77	T	0.46978	-0.9152	9	0.62326	D	0.03	-4.6908	6.3317	0.21274	0.0:0.7075:0.1897:0.1028	.	87;87;87	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	F	87	.	ENSP00000162044:C87F	C	-	2	0	TMEM161A	19104492	0.487000	0.25988	0.998000	0.56505	0.045000	0.14185	1.000000	0.29770	0.920000	0.36970	-0.304000	0.09214	TGC	.		0.617	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		A	19243492	C	A	19243492	3	1	49	1	0	0	0	0	1	0	0	0	16123	710	25	3	1215	3	TMEM161A	19	19243492	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1124118	19243492	39885491	305	10329											
ZNF486	90649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	20308051	20308052	+	Frame_Shift_Ins	INS	-	-	A													acataaaagaagacatactgINSaaaaaaaacctttgaaatat					rs558552453	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:20308051_20308052insA	ENST00000335117.8	+	4	589_590	c.532_533insA	c.(532-534)gaafs	p.E178fs	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K171fs*3(1)|p.K180fs*3(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAGACATACTGAAAAAAAACCT	0.302													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	6	0.00119808	0.0045	0	5008	,	,		18392	0		0	False		,,,				2504	0				p.E178fs		.											.	ZNF486-47	2	Deletion - Frameshift(2)	large_intestine(2)	c.532_533insA						.			21,3889		2,17,1936						-1.7	0			44	9,8053		0,9,4022	no	frameshift	ZNF486	NM_052852.2		2,26,5958	A1A1,A1R,RR		0.1116,0.5371,0.2506				30,11942				SO:0001589	frameshift_variant	90649	exon4			CATACTGAAAAAA	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.540dupA	19.37:g.20308059_20308059dupA	ENSP00000335042:p.Glu178fs	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	98	44	NM_052852	0	0	0	0	0	Q0VG00	Frame_Shift_Ins	INS	ENST00000335117.8	37	CCDS46029.1																																																																																			.		0.302	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		A	20308052	-	A	20308051	7	5	49	1	0	1	1	0	0	0	0	0	17987	1291	45	0	546	0	ZNF486	19	20308051	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	1064559	20308051	38820932	306	10330											
SLC7A10	56301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	33706703	33706703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgaagatctctgtgaCgtaggcgtagtccccgccag	12	15	1	2	rs551036567		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:33706703C>T	ENST00000253188.4	-	2	474	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	110					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATCTCTGTGACGTAGGCGTAG	0.657																																					p.V110I		.											.	SLC7A10-91	0			c.G328A						.						37	32	34					19																	33706703		2178	4281	6459	SO:0001583	missense	56301	exon2			CTGTGACGTAGGC	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.328G>A	19.37:g.33706703C>T	ENSP00000253188:p.Val110Ile	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	158	36	NM_019849	0	0	0	0	0	B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965812	0.34659	.	.	ENSG00000130876	ENST00000253188	D	0.90069	-2.61	4.79	4.79	0.61399	Amino acid permease domain (1);	0.062472	0.64402	D	0.000005	T	0.81791	0.4897	N	0.16233	0.39	0.80722	D	1	P	0.49696	0.927	P	0.46796	0.527	T	0.80195	-0.1483	10	0.02654	T	1	.	16.8665	0.86030	0.0:1.0:0.0:0.0	.	110	Q9NS82	AAA1_HUMAN	I	110	ENSP00000253188:V110I	ENSP00000253188:V110I	V	-	1	0	SLC7A10	38398543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.240000	0.73641	0.456000	0.33151	GTC	.		0.657	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		T	33706703	C	T	33706703	3	4	49	1	0	0	0	0	1	0	0	0	14738	536	19	1	1283	1	SLC7A10	19	33706703	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	13398652	33706703	25422280	307	10331											
COX6B1	1340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36145482	36145482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcacagacttccaccGctgtcagaaggcaatgaccg	8	13	3	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:36145482G>A	ENST00000592141.1	+	3	381	c.116G>A	c.(115-117)cGc>cAc	p.R39H	COX6B1_ENST00000246554.3_Missense_Mutation_p.R39H|COX6B1_ENST00000392201.1_Missense_Mutation_p.R39H			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	39					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACTTCCACCGCTGTCAGAAG	0.498																																					p.R39H		.											.	COX6B1-226	0			c.G116A						.						179	148	159					19																	36145482		2203	4300	6503	SO:0001583	missense	1340	exon3			TCCACCGCTGTCA	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2280	protein-coding gene	gene with protein product		124089	"cytochrome c oxidase subunit Vib", "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.116G>A	19.37:g.36145482G>A	ENSP00000466818:p.Arg39His	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	301	57	NM_001863	0	0	0	0	0	B2R5C9|Q6IBL4	Missense_Mutation	SNP	ENST00000592141.1	37	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368042	0.61513	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	D	0.84370	-1.84	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	.	.	.	0.80722	D	1	B	0.16166	0.016	B	0.20955	0.032	T	0.76247	-0.3029	9	0.48119	T	0.1	-11.8118	15.8518	0.78937	0.0:0.0:1.0:0.0	.	39	P14854	CX6B1_HUMAN	H	39;56	ENSP00000246554:R39H	ENSP00000246554:R39H	R	+	2	0	COX6B1	40837322	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	8.061000	0.89467	2.818000	0.97014	0.650000	0.86243	CGC	.		0.498	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		A	36145482	G	A	36145482	3	1	49	1	0	0	0	0	1	0	0	0	3783	1087	38	1	122	1	COX6B1	19	36145482	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2438779	36145482	22983501	308	10332											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu	37	chr19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-													tcgccatcccggaggcccttGgggggtgtctcctttggccc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:36223002delG	ENST00000222270.7	+	27	5631	c.5631delG	c.(5629-5631)ttgfs	p.L1877fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.L1877fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1877					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)	p.G1881fs*16(1)									GGAGGCCCTTGGGGGGTGTCT	0.672																																					p.L1877fs		.											.	MLL4-697	1	Deletion - Frameshift(1)	large_intestine(1)	c.5631delG						.						11	12	12					19																	36223002		1860	4086	5946	SO:0001589	frameshift_variant	8085	exon27			GCCCTTGGGGGGT	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.5631delG	19.37:g.36223002delG	ENSP00000222270:p.Leu1877fs	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	40	10	NM_014727	0	0	0	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.672	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		-	36223002	G	-	36223002	7	5	49	1	0	1	0	1	0	0	0	0	9661	1339	47	0	5737	0	MLL4	19	36223002	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	77520	36223002	22905981	309	10333											
LRFN3	79414	hgsc.bcm.edu	37	chr19	36431134	36431134	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcgcgggaggacgacctCgaggcctgcgcgtccccacc	15	17	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:36431134C>T	ENST00000588831.1	+	3	1861	c.807C>T	c.(805-807)ctC>ctT	p.L269L	LRFN3_ENST00000246529.3_Silent_p.L269L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	269	LRRCT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGACGACCTCGAGGCCTGCG	0.716																																					p.L269L		.											.	LRFN3-90	0			c.C807T						.						12	14	14					19																	36431134		2127	4179	6306	SO:0001819	synonymous_variant	79414	exon2			CGACCTCGAGGCC	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.807C>T	19.37:g.36431134C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	18	5	NM_024509	0	0	12	12	0	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																			.		0.716	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		T	36431134	C	T	36431134	2	4	49	1	0	0	0	0	0	0	0	1	8974	871	31	1		1	LRFN3	19	36431134	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	208132	36431134	22697849	310	10334											
ZNF529	57711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	37038306	37038306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccagtatgaattctcTgatgacgagcaagttctcta	7	9	3	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:37038306T>G	ENST00000591340.1	-	5	1312	c.1154A>C	c.(1153-1155)cAg>cCg	p.Q385P	ZNF529_ENST00000334116.7_Missense_Mutation_p.Q280P	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q385R(1)|p.Q384R(1)		breast(1)	1	Esophageal squamous(110;0.198)					ATGAATTCTCTGATGACGAGC	0.408																																					p.Q385P		.											.	ZNF529-67	2	Substitution - Missense(2)	endometrium(2)	c.A1154C						.						94	106	102					19																	37038306		2181	4294	6475	SO:0001583	missense	57711	exon6			ATTCTCTGATGAC	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.1154A>C	19.37:g.37038306T>G	ENSP00000465578:p.Gln385Pro	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	102	57	NM_001145649	0	0	1	1	0	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704994	0.30232	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	3.19	0.36642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	L	0.55017	1.72	0.24060	N	0.996014	B;B	0.22480	0.057;0.07	B;B	0.23852	0.029;0.049	T	0.42275	-0.9461	8	0.87932	D	0	.	7.3629	0.26756	0.0:0.0:0.2231:0.7769	.	280;352	Q6P280-2;Q6P280	.;ZN529_HUMAN	P	385	.	ENSP00000334695:Q385P	Q	-	2	0	ZNF529	41730146	0.013000	0.17824	0.997000	0.53966	0.968000	0.65278	0.693000	0.25497	1.312000	0.45043	0.482000	0.46254	CAG	.		0.408	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		G	37038306	T	G	37038306	3	3	49	1	0	0	0	0	1	0	0	0	18018	1580	55	5	541	5	ZNF529	19	37038306	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	607172	37038306	22090677	311	10335											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	38939333	38939333	+	Frame_Shift_Del	DEL	C	C	-													cgggatgtggagggcatgggCccccctgagatcaagtacgg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:38939333delC	ENST00000359596.3	+	11	1002	c.1002delC	c.(1000-1002)ggcfs	p.G334fs	RYR1_ENST00000355481.4_Frame_Shift_Del_p.G334fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.G334fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	334					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)	AGGGCATGGGCCCCCCTGAGA	0.637																																					p.G334fs		.											.	RYR1-100	0			c.1002delC						.						84	83	84					19																	38939333		2203	4300	6503	SO:0001589	frameshift_variant	6261	exon11			CATGGGCCCCCCT	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.1002delC	19.37:g.38939333delC	ENSP00000352608:p.Gly334fs	Somatic	166	0		WXS	Illumina GAIIx	Phase_I	344	136	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			-	38939333	C	-	38939333	7	5	49	1	0	1	0	1	0	0	0	0	13813	726	26	0	1044	0	RYR1	19	38939333	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	1901027	38939333	20189650	312	10336											
RYR1	6261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39018334	39018334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggctctgtaccggggCgtcccgggtcgcgaggagga	18	11	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:39018334C>T	ENST00000359596.3	+	73	10734	c.10734C>T	c.(10732-10734)ggC>ggT	p.G3578G	RYR1_ENST00000355481.4_Silent_p.G3573G|RYR1_ENST00000360985.3_Silent_p.G3578G|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3578					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)	TGTACCGGGGCGTCCCGGGTC	0.657																																					p.G3578G		.											.	RYR1-100	0			c.C10734T						.						39	41	40					19																	39018334		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon73			CCGGGGCGTCCCG	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.10734C>T	19.37:g.39018334C>T		Somatic	161	1		WXS	Illumina GAIIx	Phase_I	374	195	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39018334	C	T	39018334	2	4	49	1	0	0	0	0	0	0	0	1	13813	755	27	1		1	RYR1	19	39018334	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	79001	39018334	20110649	313	10337											
FBXO27	126433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39521937	39521937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgtccccaccgtgttGcaccatccactttcggaggc	9	18	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:39521937G>A	ENST00000292853.4	-	3	507	c.388C>T	c.(388-390)Caa>Taa	p.Q130*	FBXO27_ENST00000600828.1_Nonsense_Mutation_p.Q129*|CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.Q130*	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	130	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCACCGTGTTGCACCATCCAC	0.587																																					p.Q130X		.											.	FBXO27-227	0			c.C388T						.						78	73	75					19																	39521937		2203	4300	6503	SO:0001587	stop_gained	126433	exon3			CGTGTTGCACCAT	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.388C>T	19.37:g.39521937G>A	ENSP00000292853:p.Gln130*	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	269	50	NM_178820	0	0	0	0	0	Q96C87	Nonsense_Mutation	SNP	ENST00000292853.4	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673046	0.88445	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	.	.	.	3.66	-6.55	0.01854	.	2.361880	0.01889	N	0.038431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-18.5204	8.9226	0.35621	0.0:0.4812:0.1868:0.3321	.	.	.	.	X	130	.	ENSP00000292853:Q130X	Q	-	1	0	FBXO27	44213777	0.000000	0.05858	0.000000	0.03702	0.526000	0.34562	-0.080000	0.11339	-0.660000	0.05352	0.479000	0.44913	CAA	.		0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			A	39521937	G	A	39521937	4	1	49	1	0	0	0	0	0	1	0	0	5759	1328	46	3	479	3	FBXO27	19	39521937	Nonsense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	503603	39521937	19607046	314	10338											
FCGBP	8857	ucsc.edu;bcgsc.ca	37	chr19	40362754	40362754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagggcttcacggccaCgccagctgcctgacaggccg	12	18	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:40362754C>T	ENST00000221347.6	-	32	15323	c.15316G>A	c.(15316-15318)Gtg>Atg	p.V5106M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5106						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)			TTCACGGCCACGCCAGCTGCC	0.647																																					p.V5106M		.											.	FCGBP-98	0			c.G15316A						.						48	50	50					19																	40362754		2202	4300	6502	SO:0001583	missense	8857	exon32			CGGCCACGCCAGC	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.15316G>A	19.37:g.40362754C>T	ENSP00000221347:p.Val5106Met	Somatic	172	3		WXS	Illumina GAIIx	Phase_I	509	241	NM_003890	0	0	1	2	1	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615121	0.28712	.	.	ENSG00000090920	ENST00000221347	T	0.80123	-1.34	4.74	-1.54	0.08584	Uncharacterised domain, cysteine-rich (2);	30.927500	0.01214	N	0.007904	D	0.85630	0.5741	M	0.91196	3.185	0.09310	N	1	P	0.43231	0.801	P	0.45610	0.487	T	0.68150	-0.5485	10	0.59425	D	0.04	.	4.2294	0.10596	0.1493:0.4815:0.0:0.3692	.	5106	Q9Y6R7	FCGBP_HUMAN	M	5106	ENSP00000221347:V5106M	ENSP00000221347:V5106M	V	-	1	0	FCGBP	45054594	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.450000	0.06803	-0.308000	0.08792	-0.380000	0.06706	GTG	.		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40362754	C	T	40362754	3	4	49	1	0	0	0	0	1	0	0	0	5800	536	19	1	921	1	FCGBP	19	40362754	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	840817	40362754	18766229	315	10339											
PRX	57716	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	40900691	40900691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcagagacagggtcaCctggggcacctgaaccctgt	13	13	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:40900691C>T	ENST00000324001.7	-	7	3838	c.3568G>A	c.(3568-3570)Gtg>Atg	p.V1190M	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1190	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACAGGGTCACCTGGGGCACC	0.632																																					p.V1190M		.											.	PRX-92	0			c.G3568A						.						105	98	100					19																	40900691		2203	4300	6503	SO:0001583	missense	57716	exon7			GGGTCACCTGGGG	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3568G>A	19.37:g.40900691C>T	ENSP00000326018:p.Val1190Met	Somatic	87	1		WXS	Illumina GAIIx	Phase_I	225	107	NM_181882	0	0	6	12	6	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718169	0.48622	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01379	4.96	4.45	4.45	0.53987	.	0.162161	0.29002	N	0.013454	T	0.06554	0.0168	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14035	-1.0487	10	0.66056	D	0.02	-18.5263	14.0984	0.65039	0.0:1.0:0.0:0.0	.	1190	Q9BXM0	PRAX_HUMAN	M	1190;1125	ENSP00000326018:V1190M	ENSP00000326018:V1190M	V	-	1	0	PRX	45592531	0.000000	0.05858	0.992000	0.48379	0.696000	0.40369	0.150000	0.16263	2.301000	0.77427	0.561000	0.74099	GTG	.		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40900691	C	T	40900691	3	4	49	1	0	0	0	0	1	0	0	0	12684	507	18	3	821	3	PRX	19	40900691	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	537937	40900691	18228292	316	10340											
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42914911	42914913	+	In_Frame_Del	DEL	AGA	AGA	-													ttccccaggaccctggctcgAgaagaaggctatgttgtcct							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:42914911_42914913delAGA	ENST00000244289.4	-	2	1241_1243	c.965_967delTCT	c.(964-969)ttctcg>tcg	p.F322del	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	322					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCCTGGCTCGAGAAGAAGGCTAT	0.655																																					p.322_323del		.											.	LIPE-154	0			c.965_967del						.																																			SO:0001651	inframe_deletion	3991	exon2			GGCTCGAGAAGAA	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.965_967delTCT	19.37:g.42914914_42914916delAGA	ENSP00000244289:p.Phe322del	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	82	70	NM_005357	0	0	0	0	0	Q3LRT2|Q6NSL7	In_Frame_Del	DEL	ENST00000244289.4	37	CCDS12607.1																																																																																			.		0.655	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		-	42914913	AGA	-	42914911	7	5	49	1	0	1	0	1	0	0	0	0	8851	304	11	0	2299	0	LIPE	19	42914911	In_Frame_Del	DEL	AGA	TCGA-OR-A5LB-01A-11D-A29I-10	2014220	42914911	16214072	317	10341											
PSG6	5675	hgsc.bcm.edu	37	chr19	43421937	43421937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggaggggctgagaggGgtcccatggtctctgctgtc	18	9	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	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		.											.	PSG6-92	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	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	65	5	NM_001031850	0	0	0	0	0	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	49	1	0	0	0	0	1	0	0	0	12701	1232	43	3	1362	3	PSG6	19	43421937	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	507026	43421937	15707046	318	10342											
NKPD1	284353	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	45655516	45655516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtgaaggggaagtcggCgcccaggaagcgctcgaaga	17	10	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:45655516C>T	ENST00000438936.2	-	3	1724	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	NKPD1_ENST00000589776.1_Missense_Mutation_p.A505T|NKPD1_ENST00000317951.4_Missense_Mutation_p.A727T|NKPD1_ENST00000429338.1_Intron|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	505						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGGAAGTCGGCGCCCAGGAAG	0.672																																					p.A727T		.											.	NKPD1-68	0			c.G2179A						.						11	14	13					19																	45655516		1973	4122	6095	SO:0001583	missense	284353	exon4			AGTCGGCGCCCAG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1513G>A	19.37:g.45655516C>T	ENSP00000401739:p.Ala505Thr	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	165	27	NM_198478	0	0	0	0	0	B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37		.	.	.	.	.	.	.	.	.	.	C	10.27	1.303158	0.23736	.	.	ENSG00000179846	ENST00000317951;ENST00000438936	T;T	0.42900	0.97;0.96	5.43	-6.28	0.02020	.	.	.	.	.	T	0.09686	0.0238	N	0.01352	-0.895	0.09310	N	0.999998	B	0.13594	0.008	B	0.06405	0.002	T	0.21075	-1.0256	9	0.07644	T	0.81	-3.9475	2.3648	0.04316	0.5186:0.1697:0.1023:0.2094	.	505	Q17RQ9	NKPD1_HUMAN	T	727;505	ENSP00000321976:A727T;ENSP00000401739:A505T	ENSP00000321976:A727T	A	-	1	0	NKPD1	50347356	0.000000	0.05858	0.002000	0.10522	0.931000	0.56810	-0.614000	0.05604	-1.438000	0.01965	0.561000	0.74099	GCC	.		0.672	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		T	45655516	C	T	45655516	3	4	49	1	0	0	0	0	1	0	0	0	10485	768	27	1	323	1	NKPD1	19	45655516	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2233579	45655516	13473467	319	10343											
ERCC1	2067	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	45922382	45922382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggacaagcaggacccGcaaggcgaagttcttcccca	10	15	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:45922382G>A	ENST00000300853.3	-	5	1090	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	ERCC1_ENST00000591636.1_Missense_Mutation_p.R167W|ERCC1_ENST00000013807.5_Missense_Mutation_p.R167W|ERCC1_ENST00000340192.7_Missense_Mutation_p.R167W|ERCC1_ENST00000589165.1_Missense_Mutation_p.R167W|ERCC1_ENST00000423698.2_Missense_Mutation_p.R95W	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	167					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGCAGGACCCGCAAGGCGAAG	0.622								Nucleotide excision repair (NER)																													p.R167W		.											.	ERCC1-659	0			c.C499T						.						66	53	58					19																	45922382		2200	4299	6499	SO:0001583	missense	2067	exon5			GGACCCGCAAGGC		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.499C>T	19.37:g.45922382G>A	ENSP00000300853:p.Arg167Trp	Somatic	40	1		WXS	Illumina GAIIx	Phase_I	73	25	NM_001983	0	0	59	81	22	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162700	0.78226	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.56444	0.5;0.47;0.6;0.46	4.71	3.65	0.41850	Restriction endonuclease, type II-like (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	T	0.80683	-0.1273	10	0.87932	D	0	-28.4027	10.3876	0.44150	0.0:0.0:0.8052:0.1948	.	167;95;167;167	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	W	167;167;95;167	ENSP00000300853:R167W;ENSP00000345203:R167W;ENSP00000394875:R95W;ENSP00000013807:R167W	ENSP00000013807:R167W	R	-	1	2	ERCC1	50614222	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.420000	0.52735	0.949000	0.37715	0.462000	0.41574	CGG	.		0.622	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		A	45922382	G	A	45922382	3	1	49	1	0	0	0	0	1	0	0	0	5228	1086	38	1	547	1	ERCC1	19	45922382	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	266866	45922382	13206601	320	10344											
RTN2	6253	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	45996512	45996513	+	Frame_Shift_Ins	INS	-	-	G													gaacccggaggacaggagtaINSgggggggtggggcccctttg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:45996512_45996513insG	ENST00000245923.4	-	5	1173_1174	c.938_939insC	c.(937-939)cctfs	p.P313fs	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000590526.1_Frame_Shift_Ins_p.P39fs|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	313					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGGG	0.569																																					p.P313fs		.											.	RTN2-93	0			c.939_940insC						.		,	3,4259		0,3,2128					,	-1.2	0			65	17,8235		0,17,4109	no	intron,frameshift	RTN2	NM_206900.1,NM_005619.3	,	0,20,6237	A1A1,A1R,RR		0.206,0.0704,0.1598	,	,		20,12494				SO:0001589	frameshift_variant	6253	exon5			AGGAGTAGGGGGG	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.939dupC	19.37:g.45996519_45996519dupG	ENSP00000245923:p.Pro313fs	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	82	39	NM_005619	0	0	0	0	0	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Frame_Shift_Ins	INS	ENST00000245923.4	37	CCDS12665.1																																																																																			.		0.569	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		G	45996513	-	G	45996512	7	5	49	1	0	1	1	0	0	0	0	0	13771	407	15	0	726	0	RTN2	19	45996512	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	74130	45996512	13132471	321	10345											
GRIN2D	2906	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	48918195	48918195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacattctgaagcggctggCgcataccatcggcttcagct	11	13	2	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:48918195C>T	ENST00000263269.3	+	6	1575	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	496					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)	AAGCGGCTGGCGCATACCATC	0.617																																					p.A496V		.											.	GRIN2D-156	0			c.C1487T						.						49	50	49					19																	48918195		2203	4300	6503	SO:0001583	missense	2906	exon6			GGCTGGCGCATAC	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.1487C>T	19.37:g.48918195C>T	ENSP00000263269:p.Ala496Val	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	335	136	NM_000836	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361090	0.95877	.	.	ENSG00000105464	ENST00000263269	T	0.39997	1.05	4.88	4.88	0.63580	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.066103	0.64402	D	0.000016	T	0.72835	0.3510	M	0.93150	3.385	0.58432	D	0.999992	D	0.89917	1.0	D	0.68483	0.958	T	0.81551	-0.0881	10	0.87932	D	0	.	17.1833	0.86860	0.0:1.0:0.0:0.0	.	496	O15399	NMDE4_HUMAN	V	496	ENSP00000263269:A496V	ENSP00000263269:A496V	A	+	2	0	GRIN2D	53610007	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.636000	0.83301	2.445000	0.82738	0.655000	0.94253	GCG	.		0.617	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48918195	C	T	48918195	3	4	49	1	0	0	0	0	1	0	0	0	6809	768	27	1	1505	1	GRIN2D	19	48918195	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2921683	48918195	10210788	322	10346											
PTOV1	53635	hgsc.bcm.edu;bcgsc.ca	37	chr19	50360301	50360303	+	In_Frame_Del	DEL	AAG	AAG	-													tcatgctcctgtactcgtccAagaagaagatcttcatgggc							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:50360301_50360303delAAG	ENST00000601675.1	+	6	732_734	c.628_630delAAG	c.(628-630)aagdel	p.K212del	AC018766.5_ENST00000599259.1_RNA|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000599732.1_In_Frame_Del_p.K212del|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000600603.1_In_Frame_Del_p.K180del|AC018766.5_ENST00000601893.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_In_Frame_Del_p.K180del|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000391842.1_In_Frame_Del_p.K212del|PTOV1_ENST00000601638.1_In_Frame_Del_p.K180del			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	212	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTACTCGTCCAAGAAGAAGATCT	0.64																																					p.210_210del		.											.	PTOV1-226	0			c.628_630del						.																																			SO:0001651	inframe_deletion	53635	exon6			TCGTCCAAGAAGA	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.628_630delAAG	19.37:g.50360307_50360309delAAG	ENSP00000472816:p.Lys212del	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	337	144	NM_017432	0	0	0	0	0	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	CCDS12782.1																																																																																			.		0.64	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		-	50360303	AAG	-	50360301	7	5	49	1	0	1	0	1	0	0	0	0	12812	131	5	0	650	0	PTOV1	19	50360301	In_Frame_Del	DEL	AAG	TCGA-OR-A5LB-01A-11D-A29I-10	1442106	50360301	8768682	323	10347											
LRRC4B	94030	hgsc.bcm.edu	37	chr19	51051969	51051969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccggcggcagacgtcaCggccactccacctccaccgg	10	21	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:51051969C>T	ENST00000599957.1	-	2	324	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V43M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	43					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGACGTCACGGCCACTCCA	0.731																																					p.V43M		.											.	LRRC4B-205	0			c.G127A						.																																			SO:0001583	missense	94030	exon2			ACGTCACGGCCAC	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.127G>A	19.37:g.51051969C>T	ENSP00000471502:p.Val43Met	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_001080457	0	0	0	1	1	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779972	0.31502	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.59772	0.24	3.67	-4.41	0.03590	.	0.286883	0.20990	N	0.082060	T	0.24431	0.0592	N	0.08118	0	0.20489	N	0.999899	B	0.19200	0.034	B	0.10450	0.005	T	0.04961	-1.0915	10	0.37606	T	0.19	.	1.4986	0.02471	0.1528:0.2416:0.386:0.2197	.	43	Q9NT99	LRC4B_HUMAN	M	43	ENSP00000373853:V43M	ENSP00000373853:V43M	V	-	1	0	LRRC4B	55743781	0.133000	0.22466	0.382000	0.26119	0.914000	0.54420	0.763000	0.26517	-0.335000	0.08451	0.442000	0.29010	GTG	.		0.731	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		T	51051969	C	T	51051969	3	4	49	1	0	0	0	0	1	0	0	0	9042	536	19	1	2022	1	LRRC4B	19	51051969	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	691668	51051969	8077014	324	10348											
ZNF841	284371	broad.mit.edu;bcgsc.ca	37	chr19	52568564	52568564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagaccgccgcccaaaCgccttgccacattccataca	7	17	0	1	rs374222381		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:52568564C>T	ENST00000426391.2	-	5	2774	c.2223G>A	c.(2221-2223)gcG>gcA	p.A741A	ZNF841_ENST00000389534.4_Silent_p.A857A|ZNF841_ENST00000359973.2_Silent_p.A433A|CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.A857A			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GCCGCCCAAACGCCTTGCCAC	0.408																																					p.A857A		.											.	.	0			c.G2571A						.	C		0,1384		0,0,692	154	131	138		2571	-3.3	0	19		138	1,3181		0,1,1590	no	coding-synonymous	ZNF841	NM_001136499.1		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		857/925	52568564	1,4565	692	1591	2283	SO:0001819	synonymous_variant	284371	exon7			CCCAAACGCCTTG	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2223G>A	19.37:g.52568564C>T		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	320	10	NM_001136499	0	0	2	2	0	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																				.		0.408	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52568564	C	T	52568564	2	4	49	1	0	0	0	0	0	0	0	1	18237	523	19	1		1	ZNF841	19	52568564	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1516595	52568564	6560419	325	10349											
ZNF160	90338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53577421	53577421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctttgacacattccggCgttcttggttttcttgctat	8	11	2	1	rs374134545		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:53577421C>T	ENST00000429604.1	-	6	658	c.243G>A	c.(241-243)acG>acA	p.T81T	ZNF160_ENST00000355147.5_Silent_p.T81T|ZNF160_ENST00000599056.1_Silent_p.T81T|ZNF160_ENST00000601421.1_Silent_p.T45T|ZNF160_ENST00000418871.1_Silent_p.T81T|ZNF160_ENST00000599729.1_5'Flank	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	81					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACATTCCGGCGTTCTTGGTT	0.488																																					p.T81T		.											.	ZNF160-90	0			c.G243A						.	C	,,	0,4406		0,0,2203	201	172	182		243,243,243	0.8	0	19		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF160	NM_001102603.1,NM_033288.3,NM_198893.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	81/819,81/819,81/819	53577421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90338	exon6			TTCCGGCGTTCTT	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.243G>A	19.37:g.53577421C>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	175	83	NM_001102603	0	0	0	0	0	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																			.		0.488	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		T	53577421	C	T	53577421	2	4	49	1	0	0	0	0	0	0	0	1	17787	755	27	1		1	ZNF160	19	53577421	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	1008857	53577421	5551562	326	10350											
ZNF444	55311	hgsc.bcm.edu	37	chr19	56658405	56658405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgctggggctgctccGcgccctgtgccgggactggc	19	14	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:56658405G>A	ENST00000337080.3	+	3	492	c.125G>A	c.(124-126)cGc>cAc	p.R42H	ZNF444_ENST00000592949.1_Missense_Mutation_p.R42H	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	42	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)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGCTGCTCCGCGCCCTGTGC	0.746																																					p.R42H		.											.	ZNF444-90	0			c.G125A						.						6	7	7					19																	56658405		1979	3941	5920	SO:0001583	missense	55311	exon3			TGCTCCGCGCCCT	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.125G>A	19.37:g.56658405G>A	ENSP00000338860:p.Arg42His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_001253792	0	0	9	15	6	Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074791	0.76415	.	.	ENSG00000167685	ENST00000337080	T	0.05649	3.41	3.7	3.7	0.42460	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.22666	0.0547	M	0.79475	2.455	0.33192	D	0.551046	D;D	0.76494	0.999;0.999	D;D	0.78314	0.984;0.991	T	0.16958	-1.0385	9	0.37606	T	0.19	.	11.6447	0.51255	0.0:0.0:1.0:0.0	.	42;42	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	H	42	ENSP00000338860:R42H	ENSP00000338860:R42H	R	+	2	0	ZNF444	61350217	0.009000	0.17119	0.750000	0.31169	0.874000	0.50279	1.142000	0.31540	2.002000	0.58637	0.484000	0.47621	CGC	.		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		A	56658405	G	A	56658405	3	1	49	1	0	0	0	0	1	0	0	0	17965	1087	38	1	127	1	ZNF444	19	56658405	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	3080984	56658405	2470578	327	10351											
ZNF211	10520	hgsc.bcm.edu;bcgsc.ca	37	chr19	58153343	58153345	+	In_Frame_Del	DEL	ATT	ATT	-													ttagctgtaaatctaacctcAttaaacacctgagagttcac							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	ATT	ATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr19:58153343_58153345delATT	ENST00000347302.3	+	3	1668_1670	c.1489_1491delATT	c.(1489-1491)attdel	p.I497del	ZNF211_ENST00000544273.1_In_Frame_Del_p.I509del|ZNF211_ENST00000391703.3_In_Frame_Del_p.I436del|ZNF211_ENST00000254182.7_In_Frame_Del_p.I488del|ZNF211_ENST00000541801.1_In_Frame_Del_p.I488del|ZNF211_ENST00000420680.1_In_Frame_Del_p.I501del|ZNF211_ENST00000240731.4_In_Frame_Del_p.I510del|ZNF211_ENST00000299871.5_In_Frame_Del_p.I562del	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTAACCTCATTAAACACCTGA	0.443																																					p.562_562del		.											.	ZNF211-92	0			c.1684_1686del						.																																			SO:0001651	inframe_deletion	10520	exon5			AACCTCATTAAAC	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1489_1491delATT	19.37:g.58153343_58153345delATT	ENSP00000339562:p.Ile497del	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	213	104	NM_001265597	0	0	0	0	0	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	In_Frame_Del	DEL	ENST00000347302.3	37	CCDS12957.1																																																																																			.		0.443	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			-	58153345	ATT	-	58153343	7	5	49	1	0	1	0	1	0	0	0	0	17815	217	8	0	1542	0	ZNF211	19	58153343	In_Frame_Del	DEL	ATT	TCGA-OR-A5LB-01A-11D-A29I-10	1494938	58153343	975640	328	10352											
NOP56	10528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2637510	2637510	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggagagataccacgaaagaAtctggatgtcatgaaggaag	13	5	2	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:2637510A>T	ENST00000329276.5	+	10	1766	c.1250A>T	c.(1249-1251)aAt>aTt	p.N417I	NOP56_ENST00000492135.1_3'UTR|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	417					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCACGAAAGAATCTGGATGTC	0.507																																					p.N417I		.											.	NOP56-92	0			c.A1250T						.						177	145	156					20																	2637510		2203	4300	6503	SO:0001583	missense	10528	exon10			GAAAGAATCTGGA	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1250A>T	20.37:g.2637510A>T	ENSP00000370589:p.Asn417Ile	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	304	138	NM_006392	0	0	56	101	45	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.097350|4.097350	0.76870|0.76870	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000415272|ENST00000329276;ENST00000381169	.|T	.|0.40476	.|1.03	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.042518	.|0.85682	.|D	.|0.000000	T|T	0.53899|0.53899	0.1825|0.1825	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.83275	.|0.947;0.996	T|T	0.57277|0.57277	-0.7839|-0.7839	5|10	.|0.87932	.|D	.|0	-27.4111|-27.4111	14.0228|14.0228	0.64568|0.64568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|164;417	.|E9PDI8;O00567	.|.;NOP56_HUMAN	F|I	158|417;164	.|ENSP00000370589:N417I	.|ENSP00000370589:N417I	I|N	+|+	1|2	0|0	NOP56|NOP56	2585510|2585510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.969000|8.969000	0.93411|0.93411	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	ATC|AAT	.		0.507	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		T	2637510	A	T	2637510	3	4	49	1	0	0	0	0	1	0	0	0	10578	101	4	5	1288	5	NOP56	20	2637510	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10		2637510	60388010	329	10353											
ID1	3397	hgsc.bcm.edu	37	chr20	30193226	30193226	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaccgccaccgccgcCgcgggccccagctgcgcgct	14	21	0	0	rs11545368	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:30193226C>G	ENST00000376112.3	+	1	141	c.36C>G	c.(34-36)gcC>gcG	p.A12A	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Silent_p.A12A	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	12					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCACCGCCGCCGCGGGCCCCA	0.647													C|||	8	0.00159744	0	0.0014	5008	,	,		14076	0		0.007	False		,,,				2504	0				p.A12A	NSCLC(123;1618 1779 21803 28680 33854)	.											.	ID1-651	0			c.C36G						.	C	,	3,3435		0,3,1716	16	20	19		36,36	1.6	1	20	dbSNP_120	19	45,7333		0,45,3644	no	coding-synonymous,coding-synonymous	ID1	NM_002165.3,NM_181353.2	,	0,48,5360	GG,GC,CC		0.6099,0.0873,0.4438	,	12/156,12/150	30193226	48,10768	1719	3689	5408	SO:0001819	synonymous_variant	3397	exon1			CGCCGCCGCGGGC		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.36C>G	20.37:g.30193226C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_002165	0	0	0	1	1	A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Silent	SNP	ENST00000376112.3	37	CCDS13185.1																																																																																			C|0.993;G|0.007		0.647	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165		G	30193226	C	G	30193226	2	3	49	1	0	0	0	0	0	0	0	1	7516	639	23	2		2	ID1	20	30193226	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	27555716	30193226	32832294	330	10354											
KIF3B	9371	hgsc.bcm.edu;broad.mit.edu	37	chr20	30914608	30914609	+	Frame_Shift_Ins	INS	-	-	A													aaactttatccctctggaagINSaaaaaagtaaaattatgaat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:30914608_30914609insA	ENST00000375712.3	+	6	1950_1951	c.1783_1784insA	c.(1783-1785)gaafs	p.E595fs	KIF3B_ENST00000418717.2_Frame_Shift_Ins_p.E221fs	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	595	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTCTGGAAGAAAAAAGTAAA	0.351																																					p.E595fs		.											.	KIF3B-517	0			c.1783_1784insA						.																																			SO:0001589	frameshift_variant	9371	exon6			CTGGAAGAAAAAA	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1789dupA	20.37:g.30914614_30914614dupA	ENSP00000364864:p.Glu595fs	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	49	14	NM_004798	0	0	0	0	0	B2RMP4|B4DSR5|E1P5M5	Frame_Shift_Ins	INS	ENST00000375712.3	37	CCDS13200.1																																																																																			.		0.351	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		A	30914609	-	A	30914608	7	5	49	1	0	1	1	0	0	0	0	0	8328	943	33	0	1801	0	KIF3B	20	30914608	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	721382	30914608	32110912	331	10355											
E2F1	1869	broad.mit.edu;bcgsc.ca	37	chr20	32266084	32266084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtccagctgctgctcGctctcctgcagctgtcggag	14	13	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:32266084G>A	ENST00000343380.5	-	4	787	c.648C>T	c.(646-648)agC>agT	p.S216S	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	216	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTGCTGCTCGCTCTCCTGCA	0.637																																					p.S216S		.											.	E2F1-838	0			c.C648T						.						50	43	46					20																	32266084		2203	4300	6503	SO:0001819	synonymous_variant	1869	exon4			CTGCTCGCTCTCC		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.648C>T	20.37:g.32266084G>A		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	369	10	NM_005225	0	0	22	22	0	Q13143|Q92768	Silent	SNP	ENST00000343380.5	37	CCDS13224.1																																																																																			.		0.637	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			A	32266084	G	A	32266084	2	1	49	1	0	0	0	0	0	0	0	1	4880	1078	38	1		1	E2F1	20	32266084	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1351476	32266084	30759436	332	10356											
GSS	2937	hgsc.bcm.edu	37	chr20	33519853	33519855	+	In_Frame_Del	DEL	CTT	CTT	-													ctgcttagctcctgctgcacCttcttagtcccagccagctg							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:33519853_33519855delCTT	ENST00000216951.2	-	10	1014_1016	c.916_918delAAG	c.(916-918)aagdel	p.K306del	GSS_ENST00000451957.2_In_Frame_Del_p.K195del|GSS_ENST00000541098.1_In_Frame_Del_p.K178del	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	306					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCTGCTGCACCTTCTTAGTCCCA	0.611																																					p.306_306del		.											.	GSS-93	0			c.916_918del						.																																			SO:0001651	inframe_deletion	2937	exon10			CTGCACCTTCTTA		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.916_918delAAG	20.37:g.33519856_33519858delCTT	ENSP00000216951:p.Lys306del	Somatic	247	4		WXS	Illumina GAIIx	Phase_I	550	257	NM_000178	0	0	0	0	0	B2R697|B6F210|E1P5P9|Q4TTD9	In_Frame_Del	DEL	ENST00000216951.2	37	CCDS13245.1																																																																																			.		0.611	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			-	33519855	CTT	-	33519853	7	5	49	1	0	1	0	1	0	0	0	0	6856	680	24	0	522	0	GSS	20	33519853	In_Frame_Del	DEL	CTT	TCGA-OR-A5LB-01A-11D-A29I-10	1253769	33519853	29505667	333	10357											
TOP1	7150	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	39713140	39713141	+	Frame_Shift_Ins	INS	-	-	A													ccaagaataaagataaagatINSaaaaaagttcctgagccaga							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:39713140_39713141insA	ENST00000361337.2	+	8	796_797	c.546_547insA	c.(547-549)aaafs	p.K183fs		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	183	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAGATAAAGATAAAAAAGTTCC	0.371			T	NUP98	AML*																																p.D182fs		.		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	TOP1-1148	0			c.546_547insA						.																																			SO:0001589	frameshift_variant	7150	exon8			TAAAGATAAAAAA		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.552dupA	20.37:g.39713146_39713146dupA	ENSP00000354522:p.Lys183fs	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	76	24	NM_003286	0	0	0	0	0	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Frame_Shift_Ins	INS	ENST00000361337.2	37	CCDS13312.1																																																																																			.		0.371	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			A	39713141	-	A	39713140	7	5	49	1	0	1	1	0	0	0	0	0	16411	1403	49	0	576	0	TOP1	20	39713140	Frame_Shift_Ins	INS	-	TCGA-OR-A5LB-01A-11D-A29I-10	6193287	39713140	23312380	334	10358											
TH1L	51497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57568155	57568155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacccctgtccacctggcGttgctggatgaggtaagagg	13	11	0	2	rs141996345		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:57568155G>A	ENST00000344018.3	+	11	1386	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	NELFCD_ENST00000602795.1_Silent_p.A462A|NELFCD_ENST00000479207.1_3'UTR			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	453					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)											TCCACCTGGCGTTGCTGGATG	0.502													G|||	1	0.000199681	0	0	5008	,	,		17745	0.001		0	False		,,,				2504	0				p.A462A		.											.	.	0			c.G1386A						.	G		5,4401	9.9+/-24.2	0,5,2198	133	104	113		1359	-10.6	0	20	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	TH1L	NM_198976.1		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		453/591	57568155	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51497	exon11			CCTGGCGTTGCTG	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.1359G>A	20.37:g.57568155G>A		Somatic	315	0		WXS	Illumina GAIIx	Phase_I	639	152	NM_198976	0	0	6	6	0	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37																																																																																				G|0.999;A|0.001		0.502	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		A	57568155	G	A	57568155	2	1	49	1	0	0	0	0	0	0	0	1	15886	1132	40	1		1	TH1L	20	57568155	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	17855015	57568155	5457365	335	10359											
ZNF831	128611	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	57769225	57769225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggggctcccagggagGctacctcctccccgcccact	10	20	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:57769225G>A	ENST00000371030.2	+	1	3151	c.3151G>A	c.(3151-3153)Gct>Act	p.A1051T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1051							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)					TCCCAGGGAGGCTACCTCCTC	0.627																																					p.A1051T		.											.	ZNF831-126	0			c.G3151A						.						22	27	25					20																	57769225		2066	4220	6286	SO:0001583	missense	128611	exon1			AGGGAGGCTACCT	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.3151G>A	20.37:g.57769225G>A	ENSP00000360069:p.Ala1051Thr	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	139	67	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	2.621	-0.288473	0.05605	.	.	ENSG00000124203	ENST00000371030	T	0.04119	3.7	4.55	-2.6	0.06190	.	1.161610	0.06363	N	0.712095	T	0.01353	0.0044	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41752	-0.9491	10	0.02654	T	1	2.3096	1.2349	0.01951	0.3824:0.3086:0.1726:0.1364	.	1051	Q5JPB2	ZN831_HUMAN	T	1051	ENSP00000360069:A1051T	ENSP00000360069:A1051T	A	+	1	0	ZNF831	57202620	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.357000	0.20199	-0.736000	0.04831	-0.320000	0.08662	GCT	.		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57769225	G	A	57769225	3	1	49	1	0	0	0	0	1	0	0	0	18233	1203	42	3	3153	3	ZNF831	20	57769225	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	201070	57769225	5256295	336	10360											
PHACTR3	116154	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	58342325	58342325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagctctcccaagccttagCtggggctgactccctggaca	11	14	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:58342325C>A	ENST00000371015.1	+	5	1093	c.626C>A	c.(625-627)gCt>gAt	p.A209D	PHACTR3_ENST00000395636.2_Missense_Mutation_p.A168D|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A168D|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A168D|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A206D	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	209						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAAGCCTTAGCTGGGGCTGAC	0.627																																					p.A209D		.											.	PHACTR3-93	0			c.C626A						.						50	47	48					20																	58342325		2203	4300	6503	SO:0001583	missense	116154	exon5			CCTTAGCTGGGGC	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.626C>A	20.37:g.58342325C>A	ENSP00000360054:p.Ala209Asp	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	357	23	NM_080672	0	0	0	0	0	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085436	0.20390	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23552	1.91;1.93;1.9;1.9;1.9	4.7	3.75	0.43078	.	0.952451	0.08812	N	0.890151	T	0.15435	0.0372	N	0.25647	0.755	0.28336	N	0.921546	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.28902	-1.0029	10	0.12766	T	0.61	-2.1945	5.0112	0.14313	0.0:0.7099:0.0:0.2901	.	209;206	Q96KR7;B1AKX0	PHAR3_HUMAN;.	D	206;209;168;168;168	ENSP00000353002:A206D;ENSP00000360054:A209D;ENSP00000442483:A168D;ENSP00000347866:A168D;ENSP00000378998:A168D	ENSP00000347866:A168D	A	+	2	0	PHACTR3	57775720	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.274000	0.51631	2.166000	0.68216	0.460000	0.39030	GCT	.		0.627	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		A	58342325	C	A	58342325	3	1	49	1	0	0	0	0	1	0	0	0	11850	797	28	3	644	3	PHACTR3	20	58342325	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	573100	58342325	4683195	337	10361											
CABLES2	81928	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60966048	60966048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaactgctgggtgaggcgCctgtaatgaggtaacacttg	14	7	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:60966048C>A	ENST00000279101.5	-	10	1424	c.1416G>T	c.(1414-1416)agG>agT	p.R472S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	472					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGGCGCCTGTAATGAG	0.612																																					p.R472S		.											.	CABLES2-91	0			c.G1416T						.						101	98	99					20																	60966048		2203	4300	6503	SO:0001583	missense	81928	exon10			GAGGCGCCTGTAA	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1416G>T	20.37:g.60966048C>A	ENSP00000279101:p.Arg472Ser	Somatic	112	1		WXS	Illumina GAIIx	Phase_I	239	125	NM_031215	0	0	0	1	1	Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064030	0.55432	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.44881	0.91	5.43	0.289	0.15723	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.65975	2.015	0.58432	D	0.999999	B	0.32245	0.361	B	0.33690	0.168	T	0.06110	-1.0845	10	0.42905	T	0.14	-16.5176	6.0431	0.19746	0.0:0.1501:0.4134:0.4365	.	472	Q9BTV7	CABL2_HUMAN	S	260;472	ENSP00000279101:R472S	ENSP00000279101:R472S	R	-	3	2	CABLES2	60399443	1.000000	0.71417	0.955000	0.39395	0.982000	0.71751	0.782000	0.26788	-0.217000	0.10033	-0.302000	0.09304	AGG	.		0.612	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		A	60966048	C	A	60966048	3	1	49	1	0	0	0	0	1	0	0	0	2537	738	26	3	24	3	CABLES2	20	60966048	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	2623723	60966048	2059472	338	10362											
COL20A1	57642	broad.mit.edu	37	chr20	61938844	61938844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcccaccgccccagccGgcccccagttccgctgcctg	9	24	0	0	rs201827276		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:61938844G>A	ENST00000358894.6	+	6	599	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	COL20A1_ENST00000326996.6_Missense_Mutation_p.G167S|COL20A1_ENST00000422202.1_Missense_Mutation_p.G174S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G174S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	167					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)					CGCCCCAGCCGGCCCCCAGTT	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		13521	0		0	False		,,,				2504	0				p.G167S		.											.	COL20A1-90	0			c.G499A						.	G	SER/GLY	1,3905		0,1,1952	22	26	24		499	0.3	0	20		24	5,8243		0,5,4119	yes	missense	COL20A1	NM_020882.2	56	0,6,6071	AA,AG,GG		0.0606,0.0256,0.0494	benign	167/1285	61938844	6,12148	1953	4124	6077	SO:0001583	missense	57642	exon6			CCAGCCGGCCCCC	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.499G>A	20.37:g.61938844G>A	ENSP00000351767:p.Gly167Ser	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	129	4	NM_020882	0	0	0	0	0	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654191	0.14580	2.56E-4	6.06E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	3.59	0.283	0.15696	.	0.949413	0.08703	U	0.906200	T	0.59445	0.2194	N	0.24115	0.695	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.35176	-0.9799	10	0.10111	T	0.7	.	7.2734	0.26271	0.186:0.14:0.6741:0.0	.	167	Q9P218	COKA1_HUMAN	S	167;167;174;174	ENSP00000351767:G167S;ENSP00000323077:G167S;ENSP00000408690:G174S;ENSP00000414753:G174S	ENSP00000323077:G167S	G	+	1	0	COL20A1	61409289	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.023000	0.13533	-0.465000	0.06953	-1.786000	0.00637	GGC	.		0.677	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		A	61938844	G	A	61938844	3	1	49	1	0	0	0	0	1	0	0	0	3686	1116	39	1	517	1	COL20A1	20	61938844	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	972796	61938844	1086676	339	10363											
COL20A1	57642	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	61944185	61944185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtccatgacggagctgCcaggggatgcagtccagctg	15	11	0	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr20:61944185C>T	ENST00000358894.6	+	16	2075	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S	COL20A1_ENST00000326996.6_Missense_Mutation_p.P659S|COL20A1_ENST00000422202.1_Missense_Mutation_p.P666S|COL20A1_ENST00000435874.1_Missense_Mutation_p.P666S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	659	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)					GACGGAGCTGCCAGGGGATGC	0.657																																					p.P659S		.											.	COL20A1-90	0			c.C1975T						.						17	23	21					20																	61944185		1936	4115	6051	SO:0001583	missense	57642	exon16			GAGCTGCCAGGGG	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.1975C>T	20.37:g.61944185C>T	ENSP00000351767:p.Pro659Ser	Somatic	137	1		WXS	Illumina GAIIx	Phase_I	276	121	NM_020882	0	0	0	0	0	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	0.429	-0.904539	0.02453	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.29	3.34	0.38264	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.163489	0.43919	D	0.000510	T	0.29093	0.0723	N	0.19112	0.55	0.09310	N	1	P;P	0.39883	0.644;0.693	B;B	0.40659	0.227;0.336	T	0.13176	-1.0519	10	0.11485	T	0.65	.	8.1074	0.30894	0.0:0.8849:0.0:0.1151	.	666;659	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	659;659;666;666	ENSP00000351767:P659S;ENSP00000323077:P659S;ENSP00000408690:P666S;ENSP00000414753:P666S	ENSP00000323077:P659S	P	+	1	0	COL20A1	61414630	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-0.085000	0.11250	0.804000	0.34136	0.313000	0.20887	CCA	.		0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		T	61944185	C	T	61944185	3	4	49	1	0	0	0	0	1	0	0	0	3686	739	26	3	2033	3	COL20A1	20	61944185	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	5341	61944185	1081335	340	10364											
BACH1	571	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	30701923	30701925	+	In_Frame_Del	DEL	GAA	GAA	-													ggattgtatccatgatattcGaagaagaagtaaaaacagaa							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	GAA	GAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr21:30701923_30701925delGAA	ENST00000399921.1	+	4	1928_1930	c.1685_1687delGAA	c.(1684-1689)cgaaga>cga	p.562_563RR>R	BACH1_ENST00000286800.3_In_Frame_Del_p.562_563RR>R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CATGATATTCGAAGAAGAAGTAA	0.379																																					p.562_563del		.											.	BACH1-92	0			c.1685_1687del						.																																			SO:0001651	inframe_deletion	571	exon4			ATATTCGAAGAAG	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1685_1687delGAA	21.37:g.30701929_30701931delGAA	ENSP00000382805:p.Arg564del	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	232	107	NM_206866	0	0	0	0	0	Q3MJE2|Q8NCI5	In_Frame_Del	DEL	ENST00000399921.1	37	CCDS13585.1																																																																																			.		0.379	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		-	30701925	GAA	-	30701923	7	5	49	1	0	1	0	1	0	0	0	0	1284	1058	37	0	1695	0	BACH1	21	30701923	In_Frame_Del	DEL	GAA	TCGA-OR-A5LB-01A-11D-A29I-10		30701923	17427972	341	10365											
TIAM1	7074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	32638636	32638636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagctgccgcggactcGcccgcgtttccatcccccga	11	18	0	1	rs202148756		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr21:32638636G>A	ENST00000286827.3	-	5	1124	c.653C>T	c.(652-654)gCg>gTg	p.A218V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A218V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	218					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGCGGACTCGCCCGCGTTTC	0.567																																					p.A218V		.											.	TIAM1-724	0			c.C653T						.	G	VAL/ALA	0,4406		0,0,2203	66	68	68		653	-2.5	0.5	21		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	218/1592	32638636	1,13005	2203	4300	6503	SO:0001583	missense	7074	exon5			GGACTCGCCCGCG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.653C>T	21.37:g.32638636G>A	ENSP00000286827:p.Ala218Val	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	145	72	NM_003253	0	0	0	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341786	0.24339	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.40476	1.03;1.03	5.22	-2.47	0.06442	.	0.906660	0.09667	N	0.771714	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B;B;B	0.28933	0.228;0.146;0.0	B;B;B	0.19148	0.024;0.011;0.0	T	0.18840	-1.0324	10	0.18276	T	0.48	.	1.0628	0.01604	0.3718:0.268:0.2038:0.1564	.	218;218;218	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	218;59;218;218	ENSP00000286827:A218V;ENSP00000441570:A218V	ENSP00000286827:A218V	A	-	2	0	TIAM1	31560507	0.277000	0.24220	0.540000	0.28089	0.623000	0.37688	0.478000	0.22212	-0.242000	0.09667	-0.194000	0.12790	GCG	G|0.999;A|0.001		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32638636	G	A	32638636	3	1	49	1	0	0	0	0	1	0	0	0	15937	1087	38	1	4222	1	TIAM1	21	32638636	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	1936713	32638636	15491259	342	10366											
UMODL1	89766	broad.mit.edu	37	chr21	43531700	43531700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgtggcatgccaccCgttccacccgggaaacactt	8	16	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr21:43531700C>A	ENST00000408910.2	+	12	1984	c.1984C>A	c.(1984-1986)Cgt>Agt	p.R662S	UMODL1_ENST00000400424.2_Missense_Mutation_p.R590S|UMODL1_ENST00000400427.1_Missense_Mutation_p.R718S|UMODL1_ENST00000408989.2_Missense_Mutation_p.R790S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	662					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.R790S(1)|p.R590S(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						GCATGCCACCCGTTCCACCCG	0.617																																					p.R790S	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	2	Substitution - Missense(2)	kidney(2)	c.C2368A						.						49	58	55					21																	43531700		1990	4161	6151	SO:0001583	missense	89766	exon11			GCCACCCGTTCCA		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.1984C>A	21.37:g.43531700C>A	ENSP00000386147:p.Arg662Ser	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	225	5	NM_173568	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	1.090	-0.664425	0.03428	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.72615	-0.63;-0.67;-0.63;-0.67	4.18	2.29	0.28610	.	0.870854	0.09510	N	0.792493	T	0.47322	0.1439	N	0.19112	0.55	0.09310	N	1	B;P	0.34724	0.005;0.465	B;B	0.26416	0.003;0.069	T	0.20009	-1.0288	10	0.09084	T	0.74	-5.3927	7.6448	0.28315	0.0:0.734:0.1678:0.0982	.	790;662	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	S	718;590;790;662	ENSP00000383279:R718S;ENSP00000383276:R590S;ENSP00000386126:R790S;ENSP00000386147:R662S	ENSP00000383276:R590S	R	+	1	0	UMODL1	42404769	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.523000	0.06230	0.452000	0.26830	0.655000	0.94253	CGT	.		0.617	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43531700	C	A	43531700	3	1	49	1	0	0	0	0	1	0	0	0	17029	652	23	2	2410	2	UMODL1	21	43531700	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	10893064	43531700	4598195	343	10367											
CCT8L2	150160	ucsc.edu;bcgsc.ca	37	chr22	17072883	17072883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgatagcccagcaggcGtgggccaccagcttggtcaa	12	13	1	1			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:17072883G>A	ENST00000359963.3	-	1	817	c.558C>T	c.(556-558)caC>caT	p.H186H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	186					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)				CCCAGCAGGCGTGGGCCACCA	0.612																																					p.H186H		.											.	CCT8L2-69	0			c.C558T						.						66	64	65					22																	17072883		2203	4300	6503	SO:0001819	synonymous_variant	150160	exon1			GCAGGCGTGGGCC	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.558C>T	22.37:g.17072883G>A		Somatic	146	2		WXS	Illumina GAIIx	Phase_I	180	166	NM_014406	0	0	0	0	0	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	CCDS13738.1																																																																																			.		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072883	G	A	17072883	2	1	49	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CCT8L2	22	17072883	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10		17072883	34231683	344	10368											
LZTR1	8216	broad.mit.edu	37	chr22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-													accgagagctcacctgctggGaggaggtgaggggcgtgggg					rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	62	14	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del	-	21344002	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	21343966	8	5	49	1	0	1	0	1	0	0	1	0	9173	1175	41	0	672	0	LZTR1	22	21343966	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	TCGA-OR-A5LB-01A-11D-A29I-10	4271083	21343966	29960600	345	10369											
RAB36	9609	bcgsc.ca	37	chr22	23503121	23503121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggcattcgagcagtcGgtgctgcaggacctggagag	16	11	0	1	rs5759611	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:23503121G>A	ENST00000263116.2	+	10	913	c.873G>A	c.(871-873)tcG>tcA	p.S291S	RAB36_ENST00000341989.4_Silent_p.S269S	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	291					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCGAGCAGTCGGTGCTGCAGG	0.607													G|||	1138	0.227236	0.0976	0.3501	5008	,	,		20790	0.3413		0.2396	False		,,,				2504	0.1851				p.S291S		.											.	RAB36-228	0			c.G873A						.	G		535,3871	242.5+/-252.5	36,463,1704	80	69	73		873	-11.3	0.3	22	dbSNP_114	73	2217,6383	377.2+/-338.5	288,1641,2371	no	coding-synonymous	RAB36	NM_004914.2		324,2104,4075	AA,AG,GG		25.7791,12.1425,21.1595		291/334	23503121	2752,10254	2203	4300	6503	SO:0001819	synonymous_variant	9609	exon10			GCAGTCGGTGCTG	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.873G>A	22.37:g.23503121G>A		Somatic	245	1		WXS	Illumina GAIIx	Phase_I	301	8	NM_004914	0	0	5	5	0	Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	CCDS13805.1																																																																																			G|0.776;A|0.224		0.607	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		A	23503121	G	A	23503121	2	1	49	1	0	0	0	0	0	0	0	1	12971	1103	39	1		1	RAB36	22	23503121	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	2159155	23503121	27801445	346	10370											
MIF	4282	hgsc.bcm.edu	37	chr22	24237074	24237074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcggcgcgcagaaccgctCctacagcaagctgctgtgcg	14	15	0	1	rs182012324	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:24237074C>T	ENST00000215754.7	+	2	695	c.224C>T	c.(223-225)tCc>tTc	p.S75F	AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Missense_Mutation_p.P183S	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			urinary_tract(1)	1						CAGAACCGCTCCTACAGCAAG	0.741													c|||	2	0.000399361	0	0	5008	,	,		9651	0		0.001	False		,,,				2504	0.001				p.S75F		.											.	MIF-514	0			c.C224T						.		PHE/SER	0,3942		0,0,1971	3	4	4		224	2.8	0.8	22		4	7,7811		0,7,3902	yes	missense	MIF	NM_002415.1	155	0,7,5873	TT,TC,CC		0.0895,0.0,0.0595	benign	75/116	24237074	7,11753	1971	3909	5880	SO:0001583	missense	4282	exon2			ACCGCTCCTACAG	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.224C>T	22.37:g.24237074C>T	ENSP00000215754:p.Ser75Phe	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_002415	0	1	9	837	827	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000215754.7	37	CCDS13819.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	N	14.96	2.691564	0.48097	0.0	8.95E-4	ENSG00000240972	ENST00000215754	.	.	.	4.96	2.76	0.32466	Tautomerase (2);	0.780131	0.12276	N	0.483326	T	0.34629	0.0904	L	0.52905	1.665	0.09310	N	0.999996	B	0.30973	0.302	B	0.28553	0.091	T	0.33752	-0.9856	9	0.66056	D	0.02	-14.5498	5.3544	0.16053	0.1511:0.6297:0.1378:0.0814	.	75	P14174	MIF_HUMAN	F	75	.	ENSP00000215754:S75F	S	+	2	0	MIF	22567074	0.023000	0.18921	0.847000	0.33407	0.658000	0.38924	0.867000	0.27968	1.175000	0.42826	0.448000	0.29417	TCC	C|0.999;T|0.000		0.741	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1	NM_002415		T	24237074	C	T	24237074	3	4	49	1	0	0	0	0	1	0	0	0	9621	855	30	3	230	3	MIF	22	24237074	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	733953	24237074	27067492	347	10371											
CHEK2	11200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29130427	29130427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctgaagggcccataatcGagcccagggggcaggggtag	16	10	0	1	rs587781269		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:29130427G>A	ENST00000405598.1	-	3	474	c.283C>T	c.(283-285)Cga>Tga	p.R95*	CHEK2_ENST00000382566.1_Nonsense_Mutation_p.R95*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.R95*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.R95*|CHEK2_ENST00000382565.1_Nonsense_Mutation_p.R95*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.R95*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.R95*|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.R95*|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.R95*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.R95*			O96017	CHK2_HUMAN	checkpoint kinase 2	95					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						GCCCATAATCGAGCCCAGGGG	0.463			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.R95X		.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2-1515	0			c.C283T						.						46	51	49					22																	29130427		2203	4300	6503	SO:0001587	stop_gained	11200	exon2			ATAATCGAGCCCA	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.283C>T	22.37:g.29130427G>A	ENSP00000386087:p.Arg95*	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	49	47	NM_145862	0	0	0	0	0	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981356	0.97168	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	.	.	.	5.42	5.42	0.78866	.	0.052729	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3402	18.5716	0.91137	0.0:0.0:1.0:0.0	.	.	.	.	X	95;95;95;95;95;95;95;95;95;95;95;95;105	.	ENSP00000329178:R95X	R	-	1	2	CHEK2	27460427	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.658000	0.61497	2.704000	0.92352	0.655000	0.94253	CGA	.		0.463	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		A	29130427	G	A	29130427	4	1	49	1	0	0	0	0	0	1	0	0	3342	1066	37	1	1537	1	CHEK2	22	29130427	Nonsense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	4893353	29130427	22174139	348	10372											
XBP1	7494	broad.mit.edu	37	chr22	29191569	29191569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagcttggctgatgacGtccccactgacagagaaagg	11	12	0	4			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:29191569G>A	ENST00000216037.6	-	5	823	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	XBP1_ENST00000344347.5_Missense_Mutation_p.T242M|XBP1_ENST00000405219.3_Missense_Mutation_p.R201C|XBP1_ENST00000403532.3_Missense_Mutation_p.R256C	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	251					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						GGCTGATGACGTCCCCACTGA	0.522																																					p.R251C		.											.	XBP1-290	0			c.C751T						.						79	81	80					22																	29191569		2203	4300	6503	SO:0001583	missense	7494	exon5			GATGACGTCCCCA	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"basic leucine zipper proteins"	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.751C>T	22.37:g.29191569G>A	ENSP00000216037:p.Arg251Cys	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	114	4	NM_005080	0	0	71	71	0	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	CCDS13847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826173|3.826173	0.71143|0.71143	.|.	.|.	ENSG00000100219|ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000405219|ENST00000344347	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.400278	.|0.27782	.|N	.|0.017873	T|T	0.62816|0.62816	0.2459|0.2459	.|.	.|.	.|.	0.45704|0.45704	D|D	0.998614|0.998614	D|D	0.76494|0.63046	0.999|0.992	P|P	0.53689|0.47015	0.732|0.534	T|T	0.66118|0.66118	-0.6003|-0.6003	7|8	0.87932|0.59425	D|D	0|0.04	.|.	18.9768|18.9768	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201|242	B1AHH1|P17861-2	.|.	C|M	251;256;201|242	.|.	ENSP00000216037:R251C|ENSP00000343155:T242M	R|T	-|-	1|2	0|0	XBP1|XBP1	27521569|27521569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.176000|9.176000	0.94839|0.94839	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGT|ACG	.		0.522	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		A	29191569	G	A	29191569	3	1	49	1	0	0	0	0	1	0	0	0	17471	1145	40	1	409	1	XBP1	22	29191569	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	61142	29191569	22112997	349	10373											
ZNRF3	84133	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	29445345	29445345	+	Frame_Shift_Del	DEL	C	C	-													agcatggactcccacggcaaCcccgtcaccttgctgaccat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:29445345delC	ENST00000544604.2	+	8	1351	c.1176delC	c.(1174-1176)aacfs	p.N392fs	ZNRF3_ENST00000406323.3_Frame_Shift_Del_p.N292fs|ZNRF3_ENST00000402174.1_Frame_Shift_Del_p.N292fs|ZNRF3_ENST00000332811.4_Frame_Shift_Del_p.N292fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	392					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						CCCACGGCAACCCCGTCACCT	0.667																																					p.N392fs		.											.	ZNRF3-69	0			c.1176delC						.						56	65	62					22																	29445345		2181	4281	6462	SO:0001589	frameshift_variant	84133	exon8			CGGCAACCCCGTC	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.1176delC	22.37:g.29445345delC	ENSP00000443824:p.Asn392fs	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	165	146	NM_001206998	0	0	0	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Frame_Shift_Del	DEL	ENST00000544604.2	37	CCDS56225.1																																																																																			.		0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		-	29445345	C	-	29445345	7	5	49	1	0	1	0	1	0	0	0	0	18261	506	18	0	902	0	ZNRF3	22	29445345	Frame_Shift_Del	DEL	C	TCGA-OR-A5LB-01A-11D-A29I-10	253776	29445345	21859221	350	10374											
CRELD2	79174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50319196	50319196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgcctgtgtgccgccgGcagaggctggtgagtggcac	17	10	0	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:50319196G>A	ENST00000328268.4	+	9	1074	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CRELD2_ENST00000404488.3_Missense_Mutation_p.A383T|CRELD2_ENST00000403427.3_Missense_Mutation_p.A306T|CRELD2_ENST00000407217.3_Missense_Mutation_p.A302T	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	334						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TGTGCCGCCGGCAGAGGCTGG	0.592																																					p.A383T		.											.	CRELD2-90	0			c.G1147A						.						87	81	83					22																	50319196		2203	4300	6503	SO:0001583	missense	79174	exon10			CCGCCGGCAGAGG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.1000G>A	22.37:g.50319196G>A	ENSP00000332223:p.Ala334Thr	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	94	88	NM_001135101	0	0	0	0	0	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	G	6.921	0.539590	0.13250	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	T;T;T;T	0.57595	0.6;0.42;0.62;0.39	4.29	1.99	0.26369	.	62.780300	0.01754	U	0.030117	T	0.43389	0.1245	L	0.34521	1.04	0.09310	N	1	B;P;B;P;B	0.48089	0.257;0.905;0.43;0.651;0.304	B;B;B;B;B	0.42827	0.098;0.399;0.196;0.15;0.105	T	0.34875	-0.9811	10	0.14252	T	0.57	.	7.3531	0.26703	0.0915:0.3272:0.5813:0.0	.	302;383;306;334;334	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1	.;.;.;.;CREL2_HUMAN	T	383;334;302;306	ENSP00000383938:A383T;ENSP00000332223:A334T;ENSP00000386034:A302T;ENSP00000384111:A306T	ENSP00000332223:A334T	A	+	1	0	CRELD2	48705200	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.631000	0.24568	0.797000	0.33971	0.532000	0.56150	GCA	.		0.592	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		A	50319196	G	A	50319196	3	1	49	1	0	0	0	0	1	0	0	0	3874	1203	42	3	1185	3	CRELD2	22	50319196	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	20873851	50319196	985370	351	10375											
PLXNB2	23654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	50722344	50722344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctggcccccgcaccacGcacacctgtagtcggggtta	11	16	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:50722344G>A	ENST00000449103.1	-	14	2479	c.2339C>T	c.(2338-2340)gCg>gTg	p.A780V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A780V|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	780					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)		CCCGCACCACGCACACCTGTA	0.677																																					p.A780V		.											.	PLXNB2-211	0			c.C2339T						.						18	24	22					22																	50722344		2035	4169	6204	SO:0001583	missense	23654	exon14			CACCACGCACACC		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.2339C>T	22.37:g.50722344G>A	ENSP00000409171:p.Ala780Val	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	88	75	NM_012401	0	0	0	24	24	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	g	0.239	-1.015113	0.02078	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03094	4.05;4.05	4.52	0.975	0.19721	.	0.248739	0.28006	N	0.016964	T	0.00754	0.0025	N	0.00197	-1.87	0.23221	N	0.998095	B	0.02656	0.0	B	0.01281	0.0	T	0.45818	-0.9235	10	0.08381	T	0.77	.	3.8273	0.08859	0.6471:0.0:0.1951:0.1578	.	780	O15031	PLXB2_HUMAN	V	780	ENSP00000409171:A780V;ENSP00000352288:A780V	ENSP00000352288:A780V	A	-	2	0	PLXNB2	49064471	0.678000	0.27586	0.935000	0.37517	0.047000	0.14425	0.421000	0.21280	0.275000	0.22094	-0.348000	0.07805	GCG	.		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50722344	G	A	50722344	3	1	49	1	0	0	0	0	1	0	0	0	12163	1087	38	1	3273	1	PLXNB2	22	50722344	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	403148	50722344	582222	352	10376											
PLXNB2	23654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	50722601	50722601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgccgtaagacttgacGtagaggtgcaggggcagcgt	15	8	1	3			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:50722601G>A	ENST00000449103.1	-	13	2363	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	PLXNB2_ENST00000359337.4_Silent_p.Y741Y|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	741					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)		AAGACTTGACGTAGAGGTGCA	0.687																																					p.Y741Y		.											.	PLXNB2-211	0			c.C2223T						.						54	59	57					22																	50722601		2106	4218	6324	SO:0001819	synonymous_variant	23654	exon13			CTTGACGTAGAGG		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.2223C>T	22.37:g.50722601G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	71	65	NM_012401	0	0	1	32	31	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	g	1.393	-0.580304	0.03854	.	.	ENSG00000196576	ENST00000434732	.	.	.	4.39	-3.4	0.04853	.	.	.	.	.	T	0.53012	0.1770	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	4	.	.	.	.	9.0421	0.36325	0.5674:0.0:0.4326:0.0	.	.	.	.	M	83	.	.	T	-	2	0	PLXNB2	49064728	0.275000	0.24201	0.899000	0.35326	0.051000	0.14879	-0.876000	0.04201	-0.769000	0.04620	-0.696000	0.03686	ACG	.		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50722601	G	A	50722601	2	1	49	1	0	0	0	0	0	0	0	1	12163	1140	40	1		1	PLXNB2	22	50722601	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	257	50722601	581965	353	10377											
SCO2	9997	bcgsc.ca	37	chr22	50962208	50962208	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctcatccttggggccTgcattgtagtacacgcggta	12	11	1	0	rs12148	byFrequency	TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chr22:50962208T>G	ENST00000543927.1	-	2	839	c.633A>C	c.(631-633)gcA>gcC	p.A211A	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Silent_p.A211A|SCO2_ENST00000395693.3_Silent_p.A211A|SCO2_ENST00000252785.3_Silent_p.A211A	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	211	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTTGGGGCCTGCATTGTAGT	0.582													G|||	3283	0.655551	0.6694	0.6196	5008	,	,		19911	0.6677		0.6183	False		,,,				2504	0.6881				p.A211A		.											.	SCO2-226	0			c.A633C						.	G	,,,,,	2955,1451	469.8+/-355.6	982,991,230	190	160	170		633,633,633,,633,	-9.9	0	22	dbSNP_52	170	5305,3295	492.8+/-373.4	1611,2083,606	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous,utr-3	SCO2,NCAPH2	NM_001169109.1,NM_001169110.1,NM_001169111.1,NM_001185011.1,NM_005138.2,NM_152299.3	,,,,,	2593,3074,836	GG,GT,TT		38.314,32.9324,36.4909	,,,,,	211/267,211/267,211/267,,211/267,	50962208	8260,4746	2203	4300	6503	SO:0001819	synonymous_variant	9997	exon2			GGGGCCTGCATTG	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.633A>C	22.37:g.50962208T>G		Somatic	230	2		WXS	Illumina GAIIx	Phase_I	225	7	NM_001169111	0	0	93	93	0	Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	37	CCDS14095.1																																																																																			T|0.349;G|0.651		0.582	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		G	50962208	T	G	50962208	2	3	49	1	0	0	0	0	0	0	0	1	13977	1567	55	5		5	SCO2	22	50962208	Silent	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	239607	50962208	342358	354	10378											
YY2	404281	broad.mit.edu	37	chrX	21875129	21875129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagaagcaaatgcaggTcaaaacgctggagggtgagt	16	6	1	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:21875129T>G	ENST00000429584.2	+	1	1025	c.527T>G	c.(526-528)gTc>gGc	p.V176G	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	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)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CAAATGCAGGTCAAAACGCTG	0.577																																					p.V176G		.											.	YY2-193	0			c.T527G						.						113	112	113					X																	21875129		2203	4300	6503	SO:0001583	missense	404281	exon1			TGCAGGTCAAAAC	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.527T>G	X.37:g.21875129T>G	ENSP00000389381:p.Val176Gly	Somatic	67	1		WXS	Illumina GAIIx	Phase_I	104	3	NM_206923	0	0	0	0	0	B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793420	0.50102	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.35	3.14	0.36123	.	0.058961	0.64402	U	0.000004	T	0.05640	0.0148	N	0.08118	0	0.39328	D	0.965366	B	0.23735	0.09	B	0.21360	0.034	T	0.31194	-0.9952	10	0.87932	D	0	.	8.4325	0.32766	0.0:0.0:0.1955:0.8045	.	176	O15391	TYY2_HUMAN	G	176	ENSP00000389381:V176G	ENSP00000389381:V176G	V	+	2	0	YY2	21785050	0.993000	0.37304	0.003000	0.11579	0.446000	0.32137	1.890000	0.39728	0.613000	0.30089	0.486000	0.48141	GTC	.		0.577	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		G	21875129	T	G	21875129	3	3	49	1	0	0	0	0	1	0	0	0	17558	1667	58	5	529	5	YY2	23	21875129	Missense_Mutation	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10		21875129	133395431	355	10379											
SMC1A	8243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	53438821	53438823	+	In_Frame_Del	DEL	CTT	CTT	-													ggtagctgctctcttgctggCttcttctttcaaccggtggt							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:53438821_53438823delCTT	ENST00000322213.4	-	7	1269_1271	c.1142_1144delAAG	c.(1141-1146)gaagcc>gcc	p.E381del	SMC1A_ENST00000375340.6_In_Frame_Del_p.E147del	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	381					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCTTGCTGGCTTCTTCTTTCAA	0.532																																					p.381_382del		.											.	SMC1A-232	0			c.1142_1144del						.																																			SO:0001651	inframe_deletion	8243	exon7			TGCTGGCTTCTTC	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1142_1144delAAG	X.37:g.53438827_53438829delCTT	ENSP00000323421:p.Glu381del	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	123	109	NM_006306	0	0	0	0	0	O14995|Q16351|Q2M228	In_Frame_Del	DEL	ENST00000322213.4	37	CCDS14352.1																																																																																			.		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		-	53438823	CTT	-	53438821	7	5	49	1	0	1	0	1	0	0	0	0	14826	797	28	0	2633	0	SMC1A	23	53438821	In_Frame_Del	DEL	CTT	TCGA-OR-A5LB-01A-11D-A29I-10	31563692	53438821	101831739	356	10380											
FGD1	2245	broad.mit.edu	37	chrX	54497148	54497148	+	Frame_Shift_Del	DEL	G	G	-													gaggggggatgggctccagtGgggggggcatccggggcatc					rs201843295		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:54497148delG	ENST00000375135.3	-	3	1260	c.527delC	c.(526-528)ccafs	p.P176fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	176	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGCTCCAGTGGGGGGGGCAT	0.662																																					p.P176fs		.											.	FGD1-231	0			c.527delC						.			45,42,3159		2,0,25,16,2,30,8,1347,410	4	5	5			-0.4	0.5	X		5	69,69,5588		0,0,43,26,1,40,27,2055,1395	no	codingComplex	FGD1	NM_004463.2		2,0,68,42,3,70,35,3402,1805	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.4101,2.6802,2.5078			54497148	114,111,8747	2052	3958	6010	SO:0001589	frameshift_variant	2245	exon3			TCCAGTGGGGGGG	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.527delC	X.37:g.54497148delG	ENSP00000364277:p.Pro176fs	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	27	7	NM_004463	0	0	0	0	0	Q5H999|Q8N4D9	Frame_Shift_Del	DEL	ENST00000375135.3	37	CCDS14359.1																																																																																			.		0.662	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		-	54497148	G	-	54497148	7	5	49	1	0	1	0	1	0	0	0	0	5854	1348	47	0	2422	0	FGD1	23	54497148	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	1058327	54497148	100773412	357	10381											
CDX4	1046	broad.mit.edu;bcgsc.ca	37	chrX	72667191	72667191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaggcggcacagggggCggtgggagtccgatgccagc	21	10	0	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:72667191C>T	ENST00000373514.2	+	1	102	c.102C>T	c.(100-102)ggC>ggT	p.G34G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	34					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)					GCACAGGGGGCGGTGGGAGTC	0.612																																					p.G34G		.											.	CDX4-130	0			c.C102T						.						31	31	31					X																	72667191		2203	4300	6503	SO:0001819	synonymous_variant	1046	exon1			AGGGGGCGGTGGG	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.102C>T	X.37:g.72667191C>T		Somatic	42	2		WXS	Illumina GAIIx	Phase_I	107	95	NM_005193	0	0	0	0	0	A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	CCDS14424.1																																																																																			.		0.612	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		T	72667191	C	T	72667191	2	4	49	1	0	0	0	0	0	0	0	1	3191	755	27	1		1	CDX4	23	72667191	Silent	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	18170043	72667191	82603369	358	10382											
RPA4	29935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	96139817	96139817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacatgatgctggatAaagcccgtcgtgataccact	9	11	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:96139817A>G	ENST00000373040.3	+	1	911	c.508A>G	c.(508-510)Aaa>Gaa	p.K170E	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	170					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.K170*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GATGCTGGATAAAGCCCGTCG	0.458								Other identified genes with known or suspected DNA repair function																													p.K170E		.											.	RPA4-227	1	Substitution - Nonsense(1)	kidney(1)	c.A508G						.						142	112	122					X																	96139817		2203	4300	6503	SO:0001583	missense	29935	exon1			CTGGATAAAGCCC	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.508A>G	X.37:g.96139817A>G	ENSP00000362131:p.Lys170Glu	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	179	69	NM_013347	0	0	0	0	0	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902833	0.33628	.	.	ENSG00000204086	ENST00000373040	T	0.50001	0.76	3.66	2.42	0.29668	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.37100	0.0991	L	0.47190	1.495	0.09310	N	1	P	0.40578	0.722	B	0.36885	0.235	T	0.24190	-1.0167	9	0.72032	D	0.01	-23.5884	6.4038	0.21652	0.6468:0.3532:0.0:0.0	.	170	Q13156	RFA4_HUMAN	E	170	ENSP00000362131:K170E	ENSP00000362131:K170E	K	+	1	0	RPA4	96026473	0.264000	0.24093	0.003000	0.11579	0.231000	0.25187	2.139000	0.42149	0.530000	0.28619	0.486000	0.48141	AAA	.		0.458	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		G	96139817	A	G	96139817	3	3	49	1	0	0	0	0	1	0	0	0	13584	363	13	4	510	4	RPA4	23	96139817	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	23472626	96139817	59130743	359	10383											
HNRNPH2	3188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	100667308	100667308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgatactgccaacgatgGcttcgtccggcttagaggac	11	13	0	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:100667308G>A	ENST00000316594.5	+	2	410	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	111	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GCCAACGATGGCTTCGTCCGG	0.463																																					p.G111D		.											.	HNRNPH2-130	0			c.G332A						.						120	105	110					X																	100667308		2203	4300	6503	SO:0001583	missense	3188	exon2			ACGATGGCTTCGT	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.332G>A	X.37:g.100667308G>A	ENSP00000361927:p.Gly111Asp	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	357	328	NM_001032393	0	0	6	94	88	A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136872	0.56936	.	.	ENSG00000126945	ENST00000316594	T	0.11930	2.73	4.73	3.86	0.44501	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71871	2.18	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.01829	-1.1265	9	.	.	.	-6.2302	11.277	0.49172	0.0:0.0:0.8167:0.1833	.	111	P55795	HNRH2_HUMAN	D	111	ENSP00000361927:G111D	.	G	+	2	0	HNRNPH2	100553964	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.716000	0.84723	1.110000	0.41699	0.513000	0.50165	GGC	.		0.463	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		A	100667308	G	A	100667308	3	1	49	1	0	0	0	0	1	0	0	0	7294	1203	42	3	334	3	HNRNPH2	23	100667308	Missense_Mutation	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	4527491	100667308	54603252	360	10384											
RNF128	79589	hgsc.bcm.edu;broad.mit.edu	37	chrX	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-													aaccaggagaataggtccagTtttttttggctccttgtaat							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																					p.S8fs		.											.	RNF128-227	0			c.24delT						.						70	74	72					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589	exon1			GTCCAGTTTTTTT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	142	13	NM_024539	0	0	0	0	0	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	CCDS14520.1																																																																																			.		0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		-	105937256	T	-	105937256	7	5	49	1	0	1	0	1	0	0	0	0	13481	1722	60	0	26	0	RNF128	23	105937256	Frame_Shift_Del	DEL	T	TCGA-OR-A5LB-01A-11D-A29I-10	5269948	105937256	49333304	361	10385											
CAPN6	827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	110497633	110497633	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcatcacagatgtccTatgaatacaataattggtta	10	6	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:110497633T>C	ENST00000324068.1	-	3	333		c.e3-2		CAPN6_ENST00000541758.1_Splice_Site	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6						microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAGATGTCCTATGAATACAA	0.468																																					.		.											.	CAPN6-195	0			c.166-2A>G						.						93	82	86					X																	110497633		2203	4300	6503	SO:0001630	splice_region_variant	827	exon4			ATGTCCTATGAAT	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.166-2A>G	X.37:g.110497633T>C		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	142	80	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Splice_Site	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043760	0.55003	.	.	ENSG00000077274	ENST00000324068	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.346	0.66665	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN6	110384289	1.000000	0.71417	0.960000	0.40013	0.607000	0.37147	7.230000	0.78097	1.835000	0.53391	0.483000	0.47432	.	.		0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		Intron	C	110497633	T	C	110497633	5	2	49	1	0	0	0	0	0	0	1	0	2637	1536	53	4	1805	4	CAPN6	23	110497633	Splice_Site	SNP	T	TCGA-OR-A5LB-01A-11D-A29I-10	4560377	110497633	44772927	362	10386											
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118215302	118215302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagagctctttattgcgtgAtttctgccatgtggctccat	9	10	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:118215302A>T	ENST00000402510.2	-	14	5119	c.5120T>A	c.(5119-5121)aTc>aAc	p.I1707N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1707										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATTGCGTGATTTCTGCCAT	0.428																																					p.I1707N		.											.	KIAA1210-67	0			c.T5120A						.						152	134	140					X																	118215302		1896	4097	5993	SO:0001583	missense	57481	exon14			TGCGTGATTTCTG	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5120T>A	X.37:g.118215302A>T	ENSP00000384670:p.Ile1707Asn	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	81	78	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.11|12.11	1.840356|1.840356	0.32513|0.32513	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.19806|.	2.12|.	5.25|5.25	-3.91|-3.91	0.04168|0.04168	.|.	.|.	.|.	.|.	.|.	T|T	0.47801|0.47801	0.1465|0.1465	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	B|.	0.18741|.	0.03|.	B|.	0.17979|.	0.02|.	T|T	0.50162|0.50162	-0.8860|-0.8860	9|5	0.87932|.	D|.	0|.	.|.	6.2251|6.2251	0.20703|0.20703	0.404:0.0:0.458:0.138|0.404:0.0:0.458:0.138	.|.	1707|.	Q9ULL0|.	K1210_HUMAN|.	N|K	1707|1113	ENSP00000384670:I1707N|.	ENSP00000384670:I1707N|.	I|N	-|-	2|3	0|2	RP13-347D8.6|KIAA1210	118099330|118099330	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.403000|-0.403000	0.07214|0.07214	-0.994000|-0.994000	0.03463|0.03463	-0.343000|-0.343000	0.07986|0.07986	ATC|AAT	.		0.428	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118215302	A	T	118215302	3	4	49	1	0	0	0	0	1	0	0	0	8241	333	12	5	13	5	KIAA1210	23	118215302	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	7717669	118215302	37055258	363	10387											
GPC4	2239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	132437297	132437297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcagtatgtctggtttGctggtgtcaacctggacctc	12	9	3	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:132437297G>A	ENST00000370828.3	-	8	1889	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	GPC4_ENST00000535467.1_Silent_p.S385S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	455					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGGTTTGCTGGTGTCAA	0.463																																					p.S455S		.											.	GPC4-226	0			c.C1365T						.						213	160	178					X																	132437297		2203	4300	6503	SO:0001819	synonymous_variant	2239	exon8			TGGTTTGCTGGTG	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1365C>T	X.37:g.132437297G>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	140	126	NM_001448	0	0	0	22	22	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	CCDS14637.1																																																																																			.		0.463	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		A	132437297	G	A	132437297	2	1	49	1	0	0	0	0	0	0	0	1	6626	1310	46	3		3	GPC4	23	132437297	Silent	SNP	G	TCGA-OR-A5LB-01A-11D-A29I-10	14221995	132437297	22833263	364	10388											
SPANXC	64663	broad.mit.edu;bcgsc.ca	37	chrX	140336572	140336572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcttcaccccgccggCactggattgtttgtccattg	9	15	2	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:140336572C>A	ENST00000358993.2	-	1	57	c.19G>T	c.(19-21)Gcc>Tcc	p.A7S		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	7						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACCCCGCCGGCACTGGATTGT	0.502																																					p.A7S		.											.	SPANXC-62	0			c.G19T						.						91	121	111					X																	140336572		2198	4291	6489	SO:0001583	missense	64663	exon1			CGCCGGCACTGGA	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.19G>T	X.37:g.140336572C>A	ENSP00000351884:p.Ala7Ser	Somatic	262	1		WXS	Illumina GAIIx	Phase_I	466	12	NM_022661	0	0	0	0	0	Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	4.953	0.176990	0.09443	.	.	ENSG00000198573	ENST00000358993	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.24269	0.052	T	0.38779	-0.9645	7	0.72032	D	0.01	.	.	.	.	.	7	Q9NY87	SPNXC_HUMAN	S	7	ENSP00000351884:A7S	ENSP00000351884:A7S	A	-	1	0	SPANXC	140164238	0.644000	0.27277	0.001000	0.08648	0.001000	0.01503	-1.340000	0.02650	-0.728000	0.04882	-0.715000	0.03620	GCC	.		0.502	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		A	140336572	C	A	140336572	3	1	49	1	0	0	0	0	1	0	0	0	15034	710	25	3	282	3	SPANXC	23	140336572	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	7899275	140336572	14933988	365	10389											
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	140994548	140994548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagctcctctttctcctAcactttattgagtcttttcc	5	12	3	2	rs58117541		TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:140994548A>G	ENST00000285879.4	+	4	1644	c.1358A>G	c.(1357-1359)tAc>tGc	p.Y453C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	453										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)					TCTTTCTCCTACACTTTATTG	0.468										HNSCC(15;0.026)																											p.Y453C		.											.	MAGEC1-133	0			c.A1358G						.																																			SO:0001583	missense	9947	exon4			TCTCCTACACTTT	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.1358A>G	X.37:g.140994548A>G	ENSP00000285879:p.Tyr453Cys	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	87	82	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.599	0.295229	0.10622	.	.	ENSG00000155495	ENST00000285879	T	0.02395	4.31	0.131	0.131	0.14755	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.04013	0.001	T	0.46965	-0.9153	9	0.66056	D	0.02	.	4.7569	0.13088	0.3555:0.6445:0.0:0.0	.	453	O60732	MAGC1_HUMAN	C	453	ENSP00000285879:Y453C	ENSP00000285879:Y453C	Y	+	2	0	MAGEC1	140822214	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-5.594000	0.00111	-1.534000	0.01743	-1.562000	0.00884	TAC	A|0.500;C|0.500		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		G	140994548	A	G	140994548	3	3	49	1	0	0	0	0	1	0	0	0	9218	391	14	4	1364	4	MAGEC1	23	140994548	Missense_Mutation	SNP	A	TCGA-OR-A5LB-01A-11D-A29I-10	657976	140994548	14276012	366	10390											
PLXNB3	5365	hgsc.bcm.edu;bcgsc.ca	37	chrX	153042691	153042691	+	Frame_Shift_Del	DEL	G	G	-													acgctggaggatggcgaggaGgggggggtgtgcctctggca							TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:153042691delG	ENST00000361971.5	+	30	5070	c.4956delG	c.(4954-4956)gagfs	p.E1652fs	PLXNB3_ENST00000538966.1_Frame_Shift_Del_p.E1675fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.E1305fs|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1652					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)					ATGGCGAGGAGGGGGGGGTGT	0.692																																					p.E1675fs		.											.	PLXNB3-130	0			c.5025delG						.		,	72,3562		7,40,18,1526,470	12	10	10		,	3.9	0	X		10	114,6270		4,55,51,2279,1657	no	frameshift,frameshift	PLXNB3	NM_005393.2,NM_001163257.1	,	11,95,69,3805,2127	A1A1,A1R,A1,RR,R		1.7857,1.9813,1.8567	,	,	153042691	186,9832	2159	4243	6402	SO:0001589	frameshift_variant	5365	exon31			CGAGGAGGGGGGG	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.4956delG	X.37:g.153042691delG	ENSP00000355378:p.Glu1652fs	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	106	90	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Del	DEL	ENST00000361971.5	37	CCDS14729.1																																																																																			.		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			-	153042691	G	-	153042691	7	5	49	1	0	1	0	1	0	0	0	0	12164	991	35	0	5188	0	PLXNB3	23	153042691	Frame_Shift_Del	DEL	G	TCGA-OR-A5LB-01A-11D-A29I-10	12048143	153042691	2227869	367	10391											
HCFC1	3054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153225825	153225825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcacgggggatgttgtcCtccagtgtatccatcaggat	13	10	1	0			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:153225825C>A	ENST00000310441.7	-	7	1911	c.945G>T	c.(943-945)gaG>gaT	p.E315D	HCFC1_ENST00000369984.4_Missense_Mutation_p.E315D|HCFC1_ENST00000354233.3_Missense_Mutation_p.E315D|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	315					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATGTTGTCCTCCAGTGTAT	0.627																																					p.E315D		.											.	HCFC1-132	0			c.G945T						.						29	32	31					X																	153225825		2102	4184	6286	SO:0001583	missense	3054	exon7			GTTGTCCTCCAGT		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.945G>T	X.37:g.153225825C>A	ENSP00000309555:p.Glu315Asp	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	169	154	NM_005334	0	0	0	8	8	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275882	0.80580	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03745	3.83;3.82;3.92	5.39	4.53	0.55603	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	L	0.36672	1.1	0.54753	D	0.999981	P	0.36683	0.565	P	0.55161	0.77	T	0.09729	-1.0661	10	0.59425	D	0.04	.	12.2538	0.54613	0.0:0.9141:0.0:0.0859	.	315	P51610	HCFC1_HUMAN	D	315	ENSP00000309555:E315D;ENSP00000359001:E315D;ENSP00000346174:E315D	ENSP00000309555:E315D	E	-	3	2	HCFC1	152879019	0.974000	0.33945	1.000000	0.80357	0.978000	0.69477	0.230000	0.17852	1.045000	0.40225	0.600000	0.82982	GAG	.		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153225825	C	A	153225825	3	1	49	1	0	0	0	0	1	0	0	0	7018	680	24	3	5242	3	HCFC1	23	153225825	Missense_Mutation	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	183134	153225825	2044735	368	10392											
DKC1	1736	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	154004462	154004462	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaattgctttcatctcagCggaagcgagagagtgagagt	12	8	2	2			TCGA-OR-A5LB-01A-11D-A29I-10	TCGA-OR-A5LB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1859d4f0-1cb2-48c4-8c28-f41da397e24d	1486299d-8e03-4ae8-8a7f-90c4d57168c2	g.chrX:154004462C>T	ENST00000369550.5	+	14	1549	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	447	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCATCTCAGCGGAAGCGAGA	0.448									Congenital Dyskeratosis																												p.R447W		.											.	DKC1-227	0			c.C1339T						.						67	63	64					X																	154004462		2203	4300	6503	SO:0001630	splice_region_variant	1736	exon14	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	TCTCAGCGGAAGC	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1339-1C>T	X.37:g.154004462C>T		Somatic	80	1		WXS	Illumina GAIIx	Phase_I	131	49	NM_001363	0	0	0	1	1	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158188	0.57368	.	.	ENSG00000130826	ENST00000369550	D	0.97553	-4.43	5.1	1.97	0.26223	.	1.333460	0.04741	N	0.422775	D	0.96673	0.8914	L	0.48642	1.525	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	P;P	0.53146	0.719;0.719	D	0.90423	0.4418	9	.	.	.	-13.7508	10.4652	0.44602	0.6263:0.3737:0.0:0.0	.	447;447	A8MUT5;O60832	.;DKC1_HUMAN	W	447	ENSP00000358563:R447W	.	R	+	1	2	DKC1	153657656	1.000000	0.71417	0.994000	0.49952	0.704000	0.40688	0.818000	0.27295	0.556000	0.29098	0.600000	0.82982	CGG	.		0.448	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	Missense_Mutation	T	154004462	C	T	154004462	5	4	49	1	0	0	0	0	0	0	1	0	4556	782	27	1	1393	1	DKC1	23	154004462	Splice_Site	SNP	C	TCGA-OR-A5LB-01A-11D-A29I-10	778637	154004462	1266098	369	10393											
AGMAT	79814	hgsc.bcm.edu	37	chr1	15911349	15911349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttccggggcgcGtcggaagcctggcggctctg	21	11	1	0	rs3737705	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2	3	3		114	-4.1	0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_024758	0	0	0	1	1	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15911349	G	A	15911349	2	1	50	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15911349	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		15911349	233339272	1	10394											
TRIM63	84676	hgsc.bcm.edu	37	chr1	26386772	26386772	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttggtcactcgacgGgaatcctccagctgagtgat	10	13	2	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:26386772G>T	ENST00000374272.3	-	4	720	c.582C>A	c.(580-582)tcC>tcA	p.S194S	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	194	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTCGACGGGAATCCTCCA	0.567																																					p.S194S		.											.	TRIM63-226	0			c.C582A						.						118	109	112					1																	26386772		2203	4300	6503	SO:0001819	synonymous_variant	84676	exon4			TCGACGGGAATCC	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.582C>A	1.37:g.26386772G>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	45	4	NM_032588	0	0	0	0	0	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	ENST00000374272.3	37	CCDS273.1																																																																																			.		0.567	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		T	26386772	G	T	26386772	2	4	50	1	0	0	0	0	0	0	0	1	16586	1219	43	3		3	TRIM63	1	26386772	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	10475423	26386772	222863849	2	10395											
PTGER3	5733	broad.mit.edu	37	chr1	71512493	71512493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcccggcagcgggacacCagggccttaatggtggccag	16	12	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:71512493C>T	ENST00000306666.5	-	1	978	c.768G>A	c.(766-768)ctG>ctA	p.L256L	PTGER3_ENST00000414819.1_Silent_p.L256L|PTGER3_ENST00000354608.5_Silent_p.L256L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000460330.1_Silent_p.L256L|PTGER3_ENST00000370932.2_Silent_p.L256L|PTGER3_ENST00000356595.4_Silent_p.L256L|PTGER3_ENST00000370924.4_Silent_p.L256L|PTGER3_ENST00000370931.3_Silent_p.L256L|PTGER3_ENST00000351052.5_Silent_p.L256L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	256					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)	AGCGGGACACCAGGGCCTTAA	0.612																																					p.L256L		.											.	PTGER3-660	0			c.G768A						.						67	68	67					1																	71512493		2203	4300	6503	SO:0001819	synonymous_variant	5733	exon1			GGACACCAGGGCC	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.768G>A	1.37:g.71512493C>T		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	114	4	NM_001126044	0	0	0	0	0	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	CCDS657.1																																																																																			.		0.612	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		T	71512493	C	T	71512493	2	4	50	1	0	0	0	0	0	0	0	1	12787	581	21	3		3	PTGER3	1	71512493	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	45125721	71512493	177738128	3	10396											
HRNR	388697	broad.mit.edu;bcgsc.ca	37	chr1	152188140	152188140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactctcggtgacctaagcCagaagagtgaccggagccag	13	11	1	5			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:152188140C>T	ENST00000368801.2	-	3	6040	c.5965G>A	c.(5965-5967)Ggc>Agc	p.G1989S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1989					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)			TGACCTAAGCCAGAAGAGTGA	0.577																																					p.G1989S		.											.	HRNR-93	0			c.G5965A						.						35	57	50					1																	152188140		1614	3447	5061	SO:0001583	missense	388697	exon3			CTAAGCCAGAAGA	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.5965G>A	1.37:g.152188140C>T	ENSP00000357791:p.Gly1989Ser	Somatic	2748	0		WXS	Illumina GAIIx	Phase_I	3928	167	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026985	0.19512	.	.	ENSG00000197915	ENST00000368801	T	0.01947	4.54	3.2	-2.84	0.05751	.	.	.	.	.	T	0.00384	0.0012	L	0.28458	0.855	0.09310	N	1	P	0.43094	0.799	B	0.30782	0.12	T	0.41431	-0.9509	9	0.05436	T	0.98	.	8.8485	0.35186	0.0:0.4058:0.0:0.5942	.	1989	Q86YZ3	HORN_HUMAN	S	1989	ENSP00000357791:G1989S	ENSP00000357791:G1989S	G	-	1	0	HRNR	150454764	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.733000	0.04898	-0.499000	0.06623	0.505000	0.49811	GGC	.		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152188140	C	T	152188140	3	4	50	1	0	0	0	0	1	0	0	0	7386	594	21	3	2591	3	HRNR	1	152188140	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	80675647	152188140	97062481	4	10397											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	152280081	152280081	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcccggtccgtccatgGgcggactcagactgttcatg	13	13	2	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:152280081G>T	ENST00000368799.1	-	3	7316	c.7281C>A	c.(7279-7281)gcC>gcA	p.A2427A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2427	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)			TCCGTCCATGGGCGGACTCAG	0.597									Ichthyosis																												p.A2427A		.											.	FLG-106	0			c.C7281A						.						251	236	241					1																	152280081		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCCATGGGCGGAC	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.7281C>A	1.37:g.152280081G>T		Somatic	309	0		WXS	Illumina GAIIx	Phase_I	481	116	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152280081	G	T	152280081	2	4	50	1	0	0	0	0	0	0	0	1	5944	1219	43	3		3	FLG	1	152280081	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	91941	152280081	96970540	5	10398											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504669	228504670	+	Missense_Mutation	DNP	GC	GC	AT													cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg					rs61825302|rs11810627	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:228504669_228504670GC>AT	ENST00000422127.1	+	51	13589_13590	c.13545_13546GC>AT	c.(13543-13548)gcGCgg>gcATgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				TGGCCTCTGCGCGGCTCACCGT	0.733																																					p.R5228W		.											.	OBSCN-403	0			c.C16417T						.																																			SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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	Exception_encountered	1.37:g.228504669_228504670delinsAT	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	0	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	DNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.643;T|0.357		0.733	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		AT	228504670	GC	AT	228504669	3	1	50	1	0	0	0	0	1	0	0	0	10851	1074	38	1	13743	1	OBSCN	1	228504669	Missense_Mutation	DNP	GC	TCGA-OR-A5LC-01A-11D-A29I-10	76224588	228504669	20745952	6	10399											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	228526051	228526051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggggaggctgtgtctgaaGacgaatacaaggcaaggctg	16	7	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:228526051G>A	ENST00000422127.1	+	68	17106	c.17062G>A	c.(17062-17064)Gac>Aac	p.D5688N	OBSCN_ENST00000366707.4_Missense_Mutation_p.D3322N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D5688N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D6645N|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2807N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5688					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)				TGTGTCTGAAGACGAATACAA	0.622																																					p.D6645N		.											.	OBSCN-403	0			c.G19933A						.						33	42	39					1																	228526051		2026	4173	6199	SO:0001583	missense	84033	exon79			TCTGAAGACGAAT	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.17062G>A	1.37:g.228526051G>A	ENSP00000409493:p.Asp5688Asn	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	55	9	NM_001271223	0	0	2	2	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.158340|4.158340	0.78114|0.78114	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.62941|.	0.38;-0.01;0.01;0.51|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Dbl homology (DH) domain (1);|.	0.141275|.	0.47093|.	D|.	0.000248|.	T|T	0.55433|0.55433	0.1920|0.1920	L|L	0.27053|0.27053	0.805|0.805	0.46631|0.46631	D|D	0.999135|0.999135	P;P|.	0.49783|.	0.883;0.928|.	B;P|.	0.46758|.	0.327;0.526|.	T|T	0.51988|0.51988	-0.8635|-0.8635	10|5	0.66056|.	D|.	0.02|.	.|.	17.5666|17.5666	0.87921|0.87921	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5688;5688|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	N|K	5688;5688;3322;2807|303	ENSP00000284548:D5688N;ENSP00000409493:D5688N;ENSP00000355668:D3322N;ENSP00000355670:D2807N|.	ENSP00000284548:D5688N|.	D|R	+|+	1|2	0|0	OBSCN|OBSCN	226592674|226592674	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.047000|0.047000	0.14425|0.14425	8.400000|8.400000	0.90200|0.90200	2.383000|2.383000	0.81215|0.81215	0.491000|0.491000	0.48974|0.48974	GAC|AGA	.		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228526051	G	A	228526051	3	1	50	1	0	0	0	0	1	0	0	0	10851	942	33	3	17328	3	OBSCN	1	228526051	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	21382	228526051	20724570	7	10400											
PCNXL2	80003	bcgsc.ca	37	chr1	233225848	233225848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggcctgacatatgaTgtgatgaaaatgacactccc	8	10	1	5	rs12059884	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:233225848T>C	ENST00000258229.9	-	23	4269	c.4035A>G	c.(4033-4035)acA>acG	p.T1345T		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1345						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGACATATGATGTGATGAAAA	0.413													T|||	669	0.133586	0.3548	0.1066	5008	,	,		17968	0		0.1014	False		,,,				2504	0.0245				p.T1345T		.											.	PCNXL2-91	0			c.A4035G						.	T		1090,2644		175,740,952	115	110	112		4035	-11.7	0	1	dbSNP_120	112	1008,7208		59,890,3159	no	coding-synonymous	PCNXL2	NM_014801.3		234,1630,4111	CC,CT,TT		12.2687,29.1912,17.5565		1345/2138	233225848	2098,9852	1867	4108	5975	SO:0001819	synonymous_variant	80003	exon23			ATATGATGTGATG	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4035A>G	1.37:g.233225848T>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	147	6	NM_014801	0	0	0	0	0	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			T|0.854;C|0.146		0.413	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		C	233225848	T	C	233225848	2	2	50	1	0	0	0	0	0	0	0	1	11631	1451	51	4		4	PCNXL2	1	233225848	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	4699797	233225848	16024773	8	10401											
RYR2	6262	bcgsc.ca	37	chr1	237958589	237958589	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgcttttgtatattttagGtcatttcccaacaactactg	5	8	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:237958589G>T	ENST00000366574.2	+	96	14231	c.13914G>T	c.(13912-13914)caG>caT	p.Q4638H	RYR2_ENST00000542537.1_Splice_Site_p.Q4622H|RYR2_ENST00000360064.6_Splice_Site_p.Q4644H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4638					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)			TATATTTTAGGTCATTTCCCA	0.249																																					p.Q4638H		.											.	RYR2-158	0			c.G13914T						.						35	33	34					1																	237958589		1782	4032	5814	SO:0001630	splice_region_variant	6262	exon96			TTTTAGGTCATTT	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.13914-1G>T	1.37:g.237958589G>T		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	127	6	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062708	0.55432	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.96651	-4.08;-4.05;-4.07	5.45	4.51	0.55191	.	0.000000	0.64402	U	0.000015	D	0.92273	0.7549	N	0.14661	0.345	0.52501	D	0.999955	P;P	0.46277	0.808;0.875	P;P	0.49140	0.601;0.459	D	0.89804	0.3977	9	.	.	.	.	8.5779	0.33609	0.2401:0.0:0.7599:0.0	.	71;4638	F5H3C7;Q92736	.;RYR2_HUMAN	H	4638;4644;4622;71	ENSP00000355533:Q4638H;ENSP00000353174:Q4644H;ENSP00000443798:Q4622H	.	Q	+	3	2	RYR2	236025212	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.908000	0.39907	1.371000	0.46172	0.491000	0.48974	CAG	.		0.249	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	T	237958589	G	T	237958589	5	4	50	1	0	0	0	0	0	0	1	0	13814	1275	44	3	14296	3	RYR2	1	237958589	Splice_Site	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	4732741	237958589	11292032	9	10402											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	50	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10		7005369	236194004	10	10403											
ASPRV1	151516	broad.mit.edu	37	chr2	70188562	70188562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcctggctccgctccCggccatcctgctgctctcct	7	21	2	0	rs148290351		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:70188562C>T	ENST00000320256.4	-	1	835	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCTCCGCTCCCGGCCATCCTG	0.622													C|||	1	0.000199681	0	0	5008	,	,		17636	0		0.001	False		,,,				2504	0				p.G87R		.											.	ASPRV1-69	0			c.G259A						.	C	ARG/GLY	4,4402	8.1+/-20.4	0,4,2199	45	42	43		259	3.3	0	2	dbSNP_134	43	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ASPRV1	NM_152792.2	125	0,15,6488	TT,TC,CC		0.1279,0.0908,0.1153	possibly-damaging	87/344	70188562	15,12991	2203	4300	6503	SO:0001583	missense	151516	exon1			CGCTCCCGGCCAT	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.259G>A	2.37:g.70188562C>T	ENSP00000315383:p.Gly87Arg	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	200	5	NM_152792	0	0	1	1	0		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.173	0.792161	0.16258	9.08E-4	0.001279	ENSG00000244617	ENST00000320256	T	0.48836	0.8	5.79	3.27	0.37495	.	2.549940	0.03618	N	0.235833	T	0.35068	0.0919	N	0.19112	0.55	0.09310	N	1	P	0.47910	0.902	B	0.37304	0.246	T	0.36672	-0.9738	10	0.66056	D	0.02	-0.3537	9.2115	0.37322	0.0:0.8365:0.0:0.1635	.	87	Q53RT3	APRV1_HUMAN	R	87	ENSP00000315383:G87R	ENSP00000315383:G87R	G	-	1	0	ASPRV1	70042066	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.878000	0.28126	0.427000	0.26145	0.655000	0.94253	GGG	C|0.999;T|0.001		0.622	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		T	70188562	C	T	70188562	3	4	50	1	0	0	0	0	1	0	0	0	1059	652	23	1	776	1	ASPRV1	2	70188562	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	63183193	70188562	173010811	11	10404											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84771405	84771405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgactactatactattagCcaaagggcagtaacacacat	6	9	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:84771405C>T	ENST00000237449.6	+	4	719	c.711C>T	c.(709-711)agC>agT	p.S237S	DNAH6_ENST00000468661.1_3'UTR|DNAH6_ENST00000398278.2_Silent_p.S237S|DNAH6_ENST00000389394.3_Silent_p.S237S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	237	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						ATACTATTAGCCAAAGGGCAG	0.289																																					p.S237S		.											.	DNAH6-69	0			c.C711T						.						59	48	52					2																	84771405		692	1590	2282	SO:0001819	synonymous_variant	1768	exon5			TATTAGCCAAAGG	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.711C>T	2.37:g.84771405C>T		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	146	58	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			.		0.289	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84771405	C	T	84771405	2	4	50	1	0	0	0	0	0	0	0	1	4619	738	26	3		3	DNAH6	2	84771405	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	14582843	84771405	158427968	12	10405											
XIRP2	129446	broad.mit.edu	37	chr2	168108439	168108439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagaaccaccttccaagagGaatctgcatttataagtggt	9	8	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:168108439G>A	ENST00000409195.1	+	9	10626	c.10537G>A	c.(10537-10539)Gaa>Aaa	p.E3513K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3291K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3513K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3338					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						CTTCCAAGAGGAATCTGCATT	0.388																																					p.E3513K		.											.	XIRP2-104	0			c.G10537A						.						67	63	64					2																	168108439		1867	4089	5956	SO:0001583	missense	129446	exon9			CAAGAGGAATCTG	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.10537G>A	2.37:g.168108439G>A	ENSP00000386840:p.Glu3513Lys	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	26	3	NM_152381	0	0	0	0	0	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	15.86	2.958790	0.53400	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02944	4.1;4.1;4.1	5.76	5.76	0.90799	.	1.342540	0.04733	N	0.421408	T	0.10937	0.0267	M	0.68952	2.095	0.32197	N	0.578327	P;D;P	0.55385	0.952;0.971;0.873	B;P;B	0.46758	0.326;0.526;0.372	T	0.40997	-0.9533	10	0.72032	D	0.01	-4.0594	18.7332	0.91744	0.0:0.0:1.0:0.0	.	3338;3338;3291	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3513;3513;3291;927	ENSP00000386840:E3513K;ENSP00000295237:E3513K;ENSP00000387255:E3291K	ENSP00000295237:E3513K	E	+	1	0	XIRP2	167816685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.521000	0.67086	2.722000	0.93159	0.650000	0.86243	GAA	.		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168108439	G	A	168108439	3	1	50	1	0	0	0	0	1	0	0	0	17479	1175	41	3	10567	3	XIRP2	2	168108439	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	83337034	168108439	75090934	13	10406											
KCNE4	23704	broad.mit.edu;bcgsc.ca	37	chr2	223917881	223917881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagagcgtggcgccCgcgctgtcctgcaccctctg	14	16	1	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:223917881C>T	ENST00000281830.3	+	2	817	c.486C>T	c.(484-486)ccC>ccT	p.P162P	KCNE4_ENST00000604125.1_Silent_p.P111P|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	162						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCGTGGCGCCCGCGCTGTCCT	0.677																																					p.P162P		.											.	KCNE4-91	0			c.C486T						.						46	47	47					2																	223917881		2203	4300	6503	SO:0001819	synonymous_variant	23704	exon2			GGCGCCCGCGCTG	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"Potassium channels"	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.486C>T	2.37:g.223917881C>T		Somatic	47	2		WXS	Illumina GAIIx	Phase_I	110	36	NM_080671	0	0	3	3	0	B7Z275|Q53SM4|Q96CC4	Silent	SNP	ENST00000281830.3	37																																																																																				.		0.677	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		T	223917881	C	T	223917881	2	4	50	1	0	0	0	0	0	0	0	1	8052	639	23	1		1	KCNE4	2	223917881	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	55809442	223917881	19281492	14	10407											
WDFY1	57590	hgsc.bcm.edu	37	chr2	224809876	224809876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccctacctgtcctcgctGgccgtgatcacgccgtcctc	11	18	1	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:224809876G>T	ENST00000233055.4	-	1	228	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	42						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)		TGTCCTCGCTGGCCGTGATCA	0.751																																					p.A42A		.											.	WDFY1-226	0			c.C126A						.						11	12	12					2																	224809876		2184	4270	6454	SO:0001819	synonymous_variant	57590	exon1			CTCGCTGGCCGTG	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.126C>A	2.37:g.224809876G>T		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	71	40	NM_020830	0	0	0	0	0	Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	CCDS33387.1																																																																																			.		0.751	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		T	224809876	G	T	224809876	2	4	50	1	0	0	0	0	0	0	0	1	17317	1335	47	3		3	WDFY1	2	224809876	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	891995	224809876	18389497	15	10408											
CNTN4	152330	broad.mit.edu;bcgsc.ca	37	chr3	3030028	3030028	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcatttactttgatttcaGaattaccatttctgaagatg	6	6	3	4			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:3030028G>A	ENST00000397461.1	+	13	1742		c.e13-1		CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site|CNTN4_ENST00000475817.1_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4						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)		TTTGATTTCAGAATTACCATT	0.338																																					.		.											.	CNTN4-344	0			c.1359-1G>A						.						65	65	65					3																	3030028		2203	4300	6503	SO:0001630	splice_region_variant	152330	exon14			ATTTCAGAATTAC	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.1359-1G>A	3.37:g.3030028G>A		Somatic	49	1		WXS	Illumina GAIIx	Phase_I	60	5	NM_175607	0	0	0	0	0	B2RAX3|Q8IX14|Q8TC35	Splice_Site	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553774	0.86231	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN4	3005028	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.191000	0.94940	2.885000	0.99019	0.655000	0.94253	.	.		0.338	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Intron	A	3030028	G	A	3030028	5	1	50	1	0	0	0	0	0	0	1	0	3650	956	33	3	1400	3	CNTN4	3	3030028	Splice_Site	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		3030028	194992402	16	10409											
LRRC3B	116135	bcgsc.ca	37	chr3	26751493	26751493	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcatgccttcaaaggAgtagctgaaaccttgcagac	11	9	1	3	rs35497952	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:26751493A>T	ENST00000396641.2	+	2	922	c.330A>T	c.(328-330)ggA>ggT	p.G110G	LRRC3B_ENST00000417744.1_Silent_p.G110G|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Silent_p.G110G	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	110						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCTTCAAAGGAGTAGCTGAAA	0.438													A|||	739	0.147564	0.1036	0.1556	5008	,	,		21624	0.2421		0.0805	False		,,,				2504	0.1728				p.G110G		.											.	LRRC3B-94	0			c.A330T						.	A		439,3967	212.5+/-232.4	20,399,1784	65	62	63		330	-4.1	0.9	3	dbSNP_126	63	764,7836	181.8+/-230.4	43,678,3579	no	coding-synonymous	LRRC3B	NM_052953.2		63,1077,5363	TT,TA,AA		8.8837,9.9637,9.2496		110/260	26751493	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	116135	exon2			CAAAGGAGTAGCT	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.330A>T	3.37:g.26751493A>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	117	6	NM_052953	0	0	0	0	0	Q5M8T0	Silent	SNP	ENST00000396641.2	37	CCDS2644.1																																																																																			A|0.899;T|0.101		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		T	26751493	A	T	26751493	2	4	50	1	0	0	0	0	0	0	0	1	9031	291	11	5		5	LRRC3B	3	26751493	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	23721465	26751493	171270937	17	10410											
FAM3D	131177	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	58631299	58631299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactgcagattttaaacGcaaagtagttggctgggcag	11	10	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:58631299G>A	ENST00000358781.2	-	5	510	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	67					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GATTTTAAACGCAAAGTAGTT	0.488																																					p.A67V		.											.	FAM3D-90	0			c.C200T						.						57	53	54					3																	58631299		2203	4300	6503	SO:0001583	missense	131177	exon5			TTAAACGCAAAGT	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.200C>T	3.37:g.58631299G>A	ENSP00000351632:p.Ala67Val	Somatic	129	2		WXS	Illumina GAIIx	Phase_I	102	59	NM_138805	0	0	0	0	0	Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688521	0.48097	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.09	5.09	0.68999	.	0.162759	0.42172	D	0.000759	T	0.54111	0.1838	M	0.83953	2.67	0.42123	D	0.991436	D	0.89917	1.0	D	0.68483	0.958	T	0.61554	-0.7039	10	0.87932	D	0	-20.2881	16.3412	0.83082	0.0:0.0:1.0:0.0	.	67	Q96BQ1	FAM3D_HUMAN	V	67;66;30;67	ENSP00000351632:A67V;ENSP00000417099:A66V;ENSP00000417453:A30V;ENSP00000418982:A67V	ENSP00000351632:A67V	A	-	2	0	FAM3D	58606339	0.814000	0.29104	0.031000	0.17742	0.021000	0.10359	4.144000	0.58057	2.507000	0.84556	0.591000	0.81541	GCG	.		0.488	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		A	58631299	G	A	58631299	3	1	50	1	0	0	0	0	1	0	0	0	5581	1087	38	1	498	1	FAM3D	3	58631299	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	31879806	58631299	139391131	18	10411											
ADAMTS9	56999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	64536626	64536626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaaactacagctttcaCggtccaccggccgcttgctc	9	15	1	0	rs374354849		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:64536626C>T	ENST00000498707.1	-	31	5153	c.4811G>A	c.(4810-4812)cGt>cAt	p.R1604H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1576H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1604	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAGCTTTCACGGTCCACCGG	0.572																																					p.R1604H		.											.	ADAMTS9-230	0			c.G4811A						.	C	HIS/ARG	0,4406		0,0,2203	196	156	169		4811	-1.8	0	3		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS9	NM_182920.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1604/1936	64536626	1,13005	2203	4300	6503	SO:0001583	missense	56999	exon31			CTTTCACGGTCCA	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4811G>A	3.37:g.64536626C>T	ENSP00000418735:p.Arg1604His	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	178	101	NM_182920	0	0	0	0	0	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.098|0.098	-1.156236|-1.156236	0.01686|0.01686	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53423|.	0.62;0.62|.	5.69|5.69	-1.79|-1.79	0.07932|0.07932	.|.	0.838294|.	0.10738|.	N|.	0.639824|.	T|T	0.43853|0.43853	0.1266|0.1266	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.003;0.004;0.002|.	B;B;B|.	0.08055|.	0.003;0.002;0.003|.	T|T	0.41928|0.41928	-0.9481|-0.9481	10|5	0.42905|.	T|.	0.14|.	.|.	5.9462|5.9462	0.19219|0.19219	0.3492:0.3519:0.0:0.299|0.3492:0.3519:0.0:0.299	.|.	1576;1604;1604|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	H|M	1576;1604|660	ENSP00000295903:R1576H;ENSP00000418735:R1604H|.	ENSP00000295903:R1576H|.	R|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64511666|64511666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.476000|-0.476000	0.06591|0.06591	-1.132000|-1.132000	0.02907|0.02907	-2.615000|-2.615000	0.00158|0.00158	CGT|GTG	.		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64536626	C	T	64536626	3	4	50	1	0	0	0	0	1	0	0	0	273	536	19	1	1032	1	ADAMTS9	3	64536626	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	5905327	64536626	133485804	19	10412											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	50	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	85591766	150128392	47894038	20	10413											
TNK2	10188	hgsc.bcm.edu	37	chr3	195594805	195594805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcacccggggaggggaAgcaggtccaggccactggct	19	11	0	0	rs1056749	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:195594805A>G	ENST00000333602.6	-	12	2936	c.2319T>C	c.(2317-2319)gcT>gcC	p.A773A	TNK2_ENST00000392400.1_Silent_p.A773A|TNK2_ENST00000428187.1_Silent_p.A805A|TNK2_ENST00000381916.2_Silent_p.A851A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	773	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGAGGGGAAGCAGGTCCAG	0.746													a|||	593	0.118411	0.1505	0.0865	5008	,	,		11184	0.0327		0.175	False		,,,				2504	0.1278				p.A851A		.											.	TNK2-957	0			c.T2553C						.		,	451,3449		26,399,1525	5	7	6		2553,2319	-1.4	0.8	3	dbSNP_86	6	1067,6843		74,919,2962	no	coding-synonymous,coding-synonymous	TNK2	NM_001010938.1,NM_005781.4	,	100,1318,4487	GG,GA,AA		13.4893,11.5641,12.8535	,	851/1087,773/1039	195594805	1518,10292	1950	3955	5905	SO:0001819	synonymous_variant	10188	exon13			AGGGGAAGCAGGT	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.2319T>C	3.37:g.195594805A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	7	NM_001010938	0	0	3	5	2	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																			A|0.886;G|0.114		0.746	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195594805	A	G	195594805	2	3	50	1	0	0	0	0	0	0	0	1	16365	59	3	4		4	TNK2	3	195594805	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	45466413	195594805	2427625	21	10414											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	46	12	NM_175918	0	0	6	12	6	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	50	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10		1388755	189765521	22	10415											
WHSC1	7468	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1905977	1905977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcttgtccaaacactgGaagagacaaagaccacctgt	9	10	1	3	rs192103195		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:1905977G>A	ENST00000382895.3	+	5	1063	c.632G>A	c.(631-633)gGa>gAa	p.G211E	WHSC1_ENST00000514045.1_Missense_Mutation_p.G211E|WHSC1_ENST00000382892.2_Missense_Mutation_p.G211E|WHSC1_ENST00000420906.2_Missense_Mutation_p.G211E|WHSC1_ENST00000508803.1_Missense_Mutation_p.G211E|WHSC1_ENST00000382891.5_Missense_Mutation_p.G211E|WHSC1_ENST00000436793.1_Missense_Mutation_p.G211E|WHSC1_ENST00000503128.1_Missense_Mutation_p.G211E|WHSC1_ENST00000398261.1_Missense_Mutation_p.G211E	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	211					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)		CCAAACACTGGAAGAGACAAA	0.443			T	IGH@	MM								G|||	1	0.000199681	0	0	5008	,	,		20200	0		0.001	False		,,,				2504	0				p.G211E		.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1-664	0			c.G632A						.						151	141	144					4																	1905977		2203	4300	6503	SO:0001583	missense	7468	exon3			ACACTGGAAGAGA	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.632G>A	4.37:g.1905977G>A	ENSP00000372351:p.Gly211Glu	Somatic	179	1		WXS	Illumina GAIIx	Phase_I	177	68	NM_133335	0	0	0	1	1	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.022	-1.413299	0.01145	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;D;D;T;T;D;T;T;T	0.94650	-3.48;1.33;-3.48;-3.48;1.04;1.33;-3.48;1.32;1.33;1.32	5.58	2.64	0.31445	.	0.937562	0.08919	N	0.874624	D	0.84101	0.5398	N	0.17082	0.46	0.09310	N	1	P;P;B;P;B	0.39782	0.688;0.554;0.012;0.554;0.355	B;B;B;B;B	0.33521	0.165;0.165;0.009;0.165;0.165	T	0.77389	-0.2606	10	0.02654	T	1	.	5.7451	0.18116	0.0752:0.1431:0.5838:0.1979	.	211;211;211;211;211	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	E	211	ENSP00000423972:G211E;ENSP00000421681:G211E;ENSP00000372347:G211E;ENSP00000372348:G211E;ENSP00000416725:G211E;ENSP00000399251:G211E;ENSP00000372351:G211E;ENSP00000425761:G211E;ENSP00000422878:G211E;ENSP00000381311:G211E	ENSP00000308780:G211E	G	+	2	0	WHSC1	1875775	0.102000	0.21896	0.608000	0.28969	0.334000	0.28698	1.391000	0.34475	1.387000	0.46486	0.655000	0.94253	GGA	G|0.999;A|0.000		0.443	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		A	1905977	G	A	1905977	3	1	50	1	0	0	0	0	1	0	0	0	17411	1174	41	3	638	3	WHSC1	4	1905977	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	517222	1905977	189248299	23	10416											
WFS1	7466	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	6302448	6302448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgattgacatggcctccaGggcaggcatgcactggctgt	13	12	0	2	rs577526929		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:6302448G>T	ENST00000226760.1	+	8	1096	c.926G>T	c.(925-927)aGg>aTg	p.R309M	WFS1_ENST00000503569.1_Missense_Mutation_p.R309M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	309					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ATGGCCTCCAGGGCAGGCATG	0.572																																					p.R309M		.											.	WFS1-91	0			c.G926T						.						271	200	224					4																	6302448		2203	4300	6503	SO:0001583	missense	7466	exon8			CCTCCAGGGCAGG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.926G>T	4.37:g.6302448G>T	ENSP00000226760:p.Arg309Met	Somatic	248	3		WXS	Illumina GAIIx	Phase_I	279	157	NM_001145853	0	0	1	3	2	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.13|15.13	2.740751|2.740751	0.49045|0.49045	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.87571	.|-2.27;-2.27	4.6|4.6	2.09|2.09	0.27110|0.27110	.|.	.|0.293927	.|0.30989	.|N	.|0.008475	D|D	0.87180|0.87180	0.6113|0.6113	L|L	0.50333|0.50333	1.59|1.59	0.32657|0.32657	N|N	0.518542|0.518542	.|P	.|0.49358	.|0.923	.|P	.|0.54312	.|0.748	D|D	0.87059|0.87059	0.2152|0.2152	5|10	.|0.72032	.|D	.|0.01	-16.2187|-16.2187	8.3907|8.3907	0.32526|0.32526	0.8582:0.0:0.1418:0.0|0.8582:0.0:0.1418:0.0	.|.	.|309	.|O76024	.|WFS1_HUMAN	W|M	187|309	.|ENSP00000423337:R309M;ENSP00000226760:R309M	.|ENSP00000226760:R309M	G|R	+|+	1|2	0|0	WFS1|WFS1	6353349|6353349	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.935000|0.935000	0.57460|0.57460	4.150000|4.150000	0.58098|0.58098	0.041000|0.041000	0.15688|0.15688	0.556000|0.556000	0.70494|0.70494	GGG|AGG	.		0.572	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			T	6302448	G	T	6302448	3	4	50	1	0	0	0	0	1	0	0	0	17409	1000	35	3	952	3	WFS1	4	6302448	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	4396471	6302448	184851828	24	10417											
WFS1	7466	bcgsc.ca	37	chr4	6303354	6303354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtgcccctgctgttgcGctggtggaccaaggccagct	14	12	0	0	rs734312	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:6303354G>A	ENST00000226760.1	+	8	2002	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	WFS1_ENST00000503569.1_Missense_Mutation_p.R611H	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	611			R -> H (in dbSNP:rs734312). {ECO:0000269|PubMed:10521293, ECO:0000269|PubMed:10624825, ECO:0000269|PubMed:10679252, ECO:0000269|PubMed:10760554, ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:18688868, ECO:0000269|PubMed:9771706, ECO:0000269|Ref.5}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.R611H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTGCTGTTGCGCTGGTGGACC	0.637													G|||	2350	0.469249	0.0318	0.5476	5008	,	,		20311	0.8105		0.5626	False		,,,				2504	0.5573				p.R611H		.											.	WFS1-91	1	Substitution - Missense(1)	stomach(1)	c.G1832A	GRCh37	CM000447	WFS1	M	rs734312	.	G	HIS/ARG,HIS/ARG	515,3891	237.1+/-249.0	40,435,1728	199	184	189		1832,1832	4.6	1	4	dbSNP_86	189	4703,3897	606.5+/-395.1	1267,2169,864	yes	missense,missense	WFS1	NM_001145853.1,NM_006005.3	29,29	1307,2604,2592	AA,AG,GG		45.314,11.6886,40.1199	probably-damaging,probably-damaging	611/891,611/891	6303354	5218,7788	2203	4300	6503	SO:0001583	missense	7466	exon8			TGTTGCGCTGGTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1832G>A	4.37:g.6303354G>A	ENSP00000226760:p.Arg611His	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	196	7	NM_001145853	0	0	4	4	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	1136	0.5201465201465202	31	0.06300813008130081	202	0.5580110497237569	480	0.8391608391608392	423	0.558047493403694	G	7.640	0.680750	0.14907	0.116886	0.54686	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93604	-3.25;-3.25	5.41	4.57	0.56435	.	0.111903	0.64402	N	0.000013	T	0.00012	0.0000	M	0.80982	2.52	0.22142	P	0.999335408	B	0.26318	0.146	B	0.22601	0.04	T	0.47368	-0.9123	9	0.48119	T	0.1	-38.9527	13.2566	0.60083	0.0769:0.0:0.9231:0.0	rs734312;rs1046313;rs3733193;rs17719619;rs58910458;rs734312	611	O76024	WFS1_HUMAN	H	611	ENSP00000423337:R611H;ENSP00000226760:R611H	ENSP00000226760:R611H	R	+	2	0	WFS1	6354255	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.704000	0.61831	1.295000	0.44724	-0.258000	0.10820	CGC	G|0.550;A|0.450		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6303354	G	A	6303354	3	1	50	1	0	0	0	0	1	0	0	0	17409	1087	38	1	1858	1	WFS1	4	6303354	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	906	6303354	184850922	25	10418											
GABRB1	2560	bcgsc.ca	37	chr4	47322219	47322219	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaactgcaccctggagatCgaaagttgtgagttacttgg	12	8	0	3	rs6284	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:47322219C>A	ENST00000295454.3	+	5	829	c.537C>A	c.(535-537)atC>atA	p.I179I	GABRB1_ENST00000538619.1_Silent_p.I109I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	179					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCTGGAGATCGAAAGTTGTG	0.423													C|||	634	0.126597	0.1074	0.1282	5008	,	,		17941	0.1101		0.1968	False		,,,				2504	0.0961				p.I179I		.											.	GABRB1-92	0			c.C537A						.	C		553,3853	247.8+/-255.9	39,475,1689	111	96	101		537	-2.5	1	4	dbSNP_52	101	1727,6873	313.1+/-311.2	146,1435,2719	no	coding-synonymous	GABRB1	NM_000812.3		185,1910,4408	AA,AC,CC		20.0814,12.5511,17.5304		179/475	47322219	2280,10726	2203	4300	6503	SO:0001819	synonymous_variant	2560	exon5			GGAGATCGAAAGT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.537C>A	4.37:g.47322219C>A		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	100	5	NM_000812	0	0	0	0	0	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	CCDS3474.1																																																																																			C|0.849;A|0.151		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			A	47322219	C	A	47322219	2	1	50	1	0	0	0	0	0	0	0	1	6190	874	31	2		2	GABRB1	4	47322219	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	41018865	47322219	143832057	26	10419											
DSPP	1834	bcgsc.ca	37	chr4	88537267	88537267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagcagtgaaagcagCgacagcagtgacagcagcga	14	9	0	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:88537267C>T	ENST00000282478.7	+	4	3486	c.3453C>T	c.(3451-3453)agC>agT	p.S1151S	DSPP_ENST00000399271.1_Silent_p.S1151S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1151	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)		gtgaaagcagcgacagcagtg	0.562																																					p.S1151S		.											.	DSPP-90	0			c.C3453T						.						49	64	59					4																	88537267		1582	2857	4439	SO:0001819	synonymous_variant	1834	exon5			AAGCAGCGACAGC	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.3453C>T	4.37:g.88537267C>T		Somatic	531	7		WXS	Illumina GAIIx	Phase_I	589	27	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537267	C	T	88537267	2	4	50	1	0	0	0	0	0	0	0	1	4796	767	27	1		1	DSPP	4	88537267	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	41215048	88537267	102617009	27	10420											
TRPC3	7222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	122853648	122853648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgctcgatcctggcaccCttcatcagcagcatgtgcac	10	16	2	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:122853648C>A	ENST00000379645.3	-	2	838	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TRPC3_ENST00000264811.5_Missense_Mutation_p.K182N|TRPC3_ENST00000513531.1_Missense_Mutation_p.K182N	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	170					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCTGGCACCCTTCATCAGCA	0.607																																					p.K255N		.											.	TRPC3-92	0			c.G765T						.						64	58	60					4																	122853648		2203	4300	6503	SO:0001583	missense	7222	exon2			GGCACCCTTCATC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.765G>T	4.37:g.122853648C>A	ENSP00000368966:p.Lys255Asn	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	262	87	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061762	0.55432	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.70631	-0.5;-0.5;-0.5	5.66	1.83	0.25207	.	0.121359	0.51477	N	0.000081	T	0.76506	0.3997	L	0.56340	1.77	0.47407	D	0.999418	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.73883	-0.3842	10	0.87932	D	0	-1.123	6.6598	0.23009	0.0:0.398:0.4276:0.1744	.	182;255	E9PCJ9;Q5G1L5	.;.	N	182;255;182	ENSP00000264811:K182N;ENSP00000368966:K255N;ENSP00000426899:K182N	ENSP00000264811:K182N	K	-	3	2	TRPC3	123073098	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	1.346000	0.33964	0.274000	0.22072	-0.175000	0.13238	AAG	.		0.607	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122853648	C	A	122853648	3	1	50	1	0	0	0	0	1	0	0	0	16627	680	24	3	2044	3	TRPC3	4	122853648	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	34316381	122853648	68300628	28	10421											
INTU	27152	bcgsc.ca	37	chr4	128584580	128584580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgatgtgaaaagggagacGtcccatccaagacagaaaaa	10	7	0	5	rs4833380	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:128584580G>A	ENST00000335251.6	+	4	916	c.813G>A	c.(811-813)acG>acA	p.T271T	INTU_ENST00000296461.5_Silent_p.T271T	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	271					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAGGGAGACGTCCCATCCAA	0.403													A|||	3255	0.64996	0.7474	0.6023	5008	,	,		18606	0.5526		0.5646	False		,,,				2504	0.7403				p.T271T		.											.	INTU-91	0			c.G813A						.	A		3175,1231	424.7+/-340.5	1130,915,158	117	114	115		813	-7.8	0	4	dbSNP_111	115	4769,3831	540.3+/-383.8	1329,2111,860	no	coding-synonymous	INTU	NM_015693.3		2459,3026,1018	AA,AG,GG		44.5465,27.9392,38.9205		271/943	128584580	7944,5062	2203	4300	6503	SO:0001819	synonymous_variant	27152	exon4			GGAGACGTCCCAT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.813G>A	4.37:g.128584580G>A		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	184	8	NM_015693	0	0	0	0	0	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	CCDS34061.1																																																																																			G|0.390;A|0.610		0.403	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		A	128584580	G	A	128584580	2	1	50	1	0	0	0	0	0	0	0	1	7813	1132	40	1		1	INTU	4	128584580	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	5730932	128584580	62569696	29	10422											
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	138452025	138452025	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatatgtcttctgaagTttaaagtgaccatgtccatg	7	7	3	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:138452025T>C	ENST00000344876.4	-	1	1604	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	PCDH18_ENST00000412923.2_Silent_p.K406K|PCDH18_ENST00000507846.1_Silent_p.K186K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTCTGAAGTTTAAAGTGAC	0.363																																					p.K406K		.											.	PCDH18-185	0			c.A1218G						.						106	113	111					4																	138452025		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon1			CTGAAGTTTAAAG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1218A>G	4.37:g.138452025T>C		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	62	15	NM_019035	0	0	0	0	0	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																			.		0.363	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		C	138452025	T	C	138452025	2	2	50	1	0	0	0	0	0	0	0	1	11552	1722	60	4		4	PCDH18	4	138452025	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	9867445	138452025	52702251	30	10423											
TRIM2	23321	bcgsc.ca	37	chr4	154216710	154216710	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatccacaacctcgggacGatcttaaccaccaacgccgt	6	17	1	0	rs893805	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:154216710G>A	ENST00000437508.2	+	6	1152	c.951G>A	c.(949-951)acG>acA	p.T317T	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.T344T	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	317					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)	p.T317T(1)		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)		ACCTCGGGACGATCTTAACCA	0.622													G|||	2280	0.455272	0.6536	0.4049	5008	,	,		19242	0.1786		0.4563	False		,,,				2504	0.5072				p.T344T		.											.	TRIM2-650	1	Substitution - coding silent(1)	prostate(1)	c.G1032A						.	G	,	2770,1636	659.6+/-400.6	871,1028,304	69	61	63		951,1032	-4.9	0	4	dbSNP_86	63	4120,4480	563.6+/-388.2	984,2152,1164	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	1855,3180,1468	AA,AG,GG		47.907,37.1312,47.0245	,	317/745,344/772	154216710	6890,6116	2203	4300	6503	SO:0001819	synonymous_variant	23321	exon6			CGGGACGATCTTA	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.951G>A	4.37:g.154216710G>A		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	195	7	NM_015271	0	0	0	0	0	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	CCDS47147.1																																																																																			G|0.511;A|0.489		0.622	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			A	154216710	G	A	154216710	2	1	50	1	0	0	0	0	0	0	0	1	16542	1045	37	1		1	TRIM2	4	154216710	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	15764685	154216710	36937566	31	10424											
DCHS2	54798	bcgsc.ca	37	chr4	155241572	155241572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtcatgttttcatttcctGagaggatgctgtatgttact	9	7	2	1	rs11935573	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:155241572G>A	ENST00000357232.4	-	14	3613	c.3614C>T	c.(3613-3615)tCa>tTa	p.S1205L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1205	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> L (in dbSNP:rs11935573).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1205L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCATTTCCTGAGAGGATGCT	0.393													G|||	1317	0.262979	0.0613	0.2997	5008	,	,		22015	0.3552		0.3161	False		,,,				2504	0.3599				p.S1205L		.											.	DCHS2-94	2	Substitution - Missense(2)	prostate(1)|stomach(1)	c.C3614T						.	G	LEU/SER	461,3945	219.1+/-236.9	25,411,1767	186	168	174		3614	5.6	1	4	dbSNP_120	174	2792,5808	442.8+/-360.2	457,1878,1965	yes	missense	DCHS2	NM_017639.3	145	482,2289,3732	AA,AG,GG		32.4651,10.463,25.0115	probably-damaging	1205/2917	155241572	3253,9753	2203	4300	6503	SO:0001583	missense	54798	exon14			TTTCCTGAGAGGA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3614C>T	4.37:g.155241572G>A	ENSP00000349768:p.Ser1205Leu	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	159	6	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	597	0.2733516483516483	25	0.0508130081300813	115	0.31767955801104975	210	0.36713286713286714	247	0.3258575197889182	G	24.6	4.548489	0.86127	0.10463	0.324651	ENSG00000197410	ENST00000357232	T	0.43294	0.95	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.455087	0.18369	N	0.143322	T	0.00012	0.0000	M	0.76328	2.33	0.09310	P	1.0	D	0.71674	0.998	P	0.61592	0.891	T	0.26643	-1.0097	9	0.54805	T	0.06	.	14.3837	0.66929	0.0:0.0:0.8522:0.1478	rs11935573;rs52822939;rs61644114;rs11935573	1205	Q6V1P9	PCD23_HUMAN	L	1205	ENSP00000349768:S1205L	ENSP00000349768:S1205L	S	-	2	0	DCHS2	155461022	0.953000	0.32496	1.000000	0.80357	0.965000	0.64279	4.281000	0.58965	2.619000	0.88677	0.467000	0.42956	TCA	G|0.746;A|0.254		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155241572	G	A	155241572	3	1	50	1	0	0	0	0	1	0	0	0	4297	1294	45	3	5184	3	DCHS2	4	155241572	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	1024862	155241572	35912704	32	10425											
IRX4	50805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	1879909	1879909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggtctcgcgcgtggCgttcttgcgccgcgtgccgc	17	14	2	0	rs200961337		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:1879909C>A	ENST00000505790.1	-	5	901	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.A149S|IRX4_ENST00000513692.1_Missense_Mutation_p.A149S	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	149					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCGCGCGTGGCGTTCTTGCGC	0.642																																					p.A149S		.											.	IRX4-226	0			c.G445T						.						125	94	104					5																	1879909		2203	4300	6503	SO:0001583	missense	50805	exon4			GCGTGGCGTTCTT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.445G>T	5.37:g.1879909C>A	ENSP00000423161:p.Ala149Ser	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	106	82	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054298	0.93793	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.83837	-1.77;-1.77;-1.77;-0.27	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.93778	0.7081	10	0.72032	D	0.01	-26.1033	16.0968	0.81132	0.0:1.0:0.0:0.0	.	149	P78413	IRX4_HUMAN	S	149;149;149;175	ENSP00000231357:A149S;ENSP00000423161:A149S;ENSP00000424235:A149S;ENSP00000421772:A175S	ENSP00000231357:A149S	A	-	1	0	IRX4	1932909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.067000	0.61834	0.462000	0.41574	GCC	.		0.642	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		A	1879909	C	A	1879909	3	1	50	1	0	0	0	0	1	0	0	0	7873	768	27	2	1122	2	IRX4	5	1879909	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10		1879909	179035351	33	10426											
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	16671084	16671084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggataaccgcttcgtGggcctgaaaggagacagtca	13	10	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:16671084G>T	ENST00000513610.1	-	39	5888	c.5434C>A	c.(5434-5436)Cac>Aac	p.H1812N	MYO10_ENST00000515803.1_Missense_Mutation_p.H1151N|MYO10_ENST00000427430.2_Missense_Mutation_p.H1169N|MYO10_ENST00000274203.9_Missense_Mutation_p.H1169N|MYO10_ENST00000505695.1_Missense_Mutation_p.H1151N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1812	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCGCTTCGTGGGCCTGAAAG	0.562																																					p.H1812N		.											.	MYO10-3	0			c.C5434A						.						33	38	36					5																	16671084		2072	4212	6284	SO:0001583	missense	4651	exon39			CTTCGTGGGCCTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5434C>A	5.37:g.16671084G>T	ENSP00000421280:p.His1812Asn	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	86	13	NM_012334	0	0	0	0	0	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045054	0.55110	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.88695	0.6506	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.96;0.995;0.998	D	0.85797	0.1371	9	0.21540	T	0.41	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	691;1452;1812	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1812;1151;1169;1151;1169	ENSP00000421280:H1812N;ENSP00000425051:H1151N;ENSP00000274203:H1169N;ENSP00000421170:H1151N;ENSP00000391106:H1169N	ENSP00000274203:H1169N	H	-	1	0	MYO10	16724084	1.000000	0.71417	0.999000	0.59377	0.246000	0.25737	9.827000	0.99397	2.586000	0.87340	0.563000	0.77884	CAC	.		0.562	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16671084	G	T	16671084	3	4	50	1	0	0	0	0	1	0	0	0	10100	1348	47	3	754	3	MYO10	5	16671084	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	14791175	16671084	164244176	34	10427											
C9	735	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	39308392	39308392	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaattcagctccaacagagaTttcagagaaagccagagata	8	8	2	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:39308392T>A	ENST00000263408.4	-	8	1275	c.1180A>T	c.(1180-1182)Atc>Ttc	p.I394F		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	394	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCAACAGAGATTTCAGAGAAA	0.363																																					p.I394F		.											.	C9-90	0			c.A1180T						.						130	127	128					5																	39308392		2203	4300	6503	SO:0001583	missense	735	exon8			CAGAGATTTCAGA		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1180A>T	5.37:g.39308392T>A	ENSP00000263408:p.Ile394Phe	Somatic	144	2		WXS	Illumina GAIIx	Phase_I	161	73	NM_001737	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	4.278	0.050817	0.08243	.	.	ENSG00000113600	ENST00000263408	T	0.31769	1.48	4.73	-9.46	0.00597	Membrane attack complex component/perforin (MACPF) domain (3);	4.297030	0.00589	N	0.000345	T	0.15435	0.0372	L	0.34521	1.04	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.20974	-1.0259	10	0.15499	T	0.54	0.645	0.7129	0.00927	0.1908:0.2294:0.1917:0.3881	.	394	P02748	CO9_HUMAN	F	394	ENSP00000263408:I394F	ENSP00000263408:I394F	I	-	1	0	C9	39344149	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.298000	0.08265	-1.928000	0.01059	0.477000	0.44152	ATC	.		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			A	39308392	T	A	39308392	3	1	50	1	0	0	0	0	1	0	0	0	2450	1493	52	5	515	5	C9	5	39308392	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	22637308	39308392	141606868	35	10428											
HEATR7B2	133558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	41032905	41032905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagctaaggaatccagggGctcgtctctaatgaagtcct	11	10	1	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:41032905G>A	ENST00000399564.4	-	24	2830	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	MROH2B_ENST00000506092.2_Missense_Mutation_p.P349S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	794																	GAATCCAGGGGCTCGTCTCTA	0.388																																					p.P794S		.											.	.	0			c.C2380T						.						65	60	62					5																	41032905		1846	4082	5928	SO:0001583	missense	133558	exon24			CCAGGGGCTCGTC		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2380C>T	5.37:g.41032905G>A	ENSP00000382476:p.Pro794Ser	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	95	31	NM_173489	0	0	0	0	0	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894313	0.72639	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.09445	2.98;2.98	5.67	5.67	0.87782	.	0.577906	0.15923	N	0.238038	T	0.33469	0.0864	M	0.73217	2.22	0.44316	D	0.997192	D	0.89917	1.0	D	0.87578	0.998	T	0.00400	-1.1763	10	0.48119	T	0.1	.	15.2694	0.73689	0.0:0.0:1.0:0.0	.	794	Q7Z745	HTRB2_HUMAN	S	349;499;794	ENSP00000441504:P349S;ENSP00000382476:P794S	ENSP00000296803:P499S	P	-	1	0	HEATR7B2	41068662	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	4.860000	0.62961	2.674000	0.91012	0.655000	0.94253	CCC	.		0.388	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		A	41032905	G	A	41032905	3	1	50	1	0	0	0	0	1	0	0	0	7062	1203	42	3	2453	3	HEATR7B2	5	41032905	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	1724513	41032905	139882355	36	10429											
MSH3	4437	hgsc.bcm.edu	37	chr5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagcggctgcagcgGccgcagcggccgcagcgccc	17	18	0	0	rs144776112|rs201874762		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.G169C						.						7	7	7					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	26	14	NM_002439	0	0	0	0	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.834;C|0.166		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79950715	G	C	79950715	3	2	50	1	0	0	0	0	1	0	0	0	9909	1203	42	3	171	3	MSH3	5	79950715	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	38917810	79950715	100964545	37	10430											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	50	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	95841890	175792605	5122655	38	10431											
ATXN1	6310	broad.mit.edu	37	chr6	16327915	16327916	+	In_Frame_Ins	INS	-	-	TGC													gctgctgctgctgatgctgaINStgctgctgctgctgctgctg					rs11969612|rs369629396	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:16327915_16327916insTGC	ENST00000244769.4	-	8	1562_1563	c.626_627insGCA	c.(625-627)cat>caGCAt	p.208_209insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.208_209insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgctg	0.668																																					p.H209delinsQH		.											.	ATXN1-93	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_628insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			ATGCTGATGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626dupGCA	6.37:g.16327922_16327924dupTGC	ENSP00000244769:p.Gln209_Gln210dup	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	27	15	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327916	-	TGC	16327915	7	5	50	1	0	1	1	0	0	0	0	0	1210	330	12	0	1828	0	ATXN1	6	16327915	In_Frame_Ins	INS	-	TCGA-OR-A5LC-01A-11D-A29I-10		16327915	154787152	39	10432											
HIST1H2BA	255626	bcgsc.ca	37	chr6	25727334	25727334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatgagcattatgaattcCttcgtcactgatatctttga	7	8	2	4	rs4712961	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:25727334C>T	ENST00000274764.2	+	1	198	c.198C>T	c.(196-198)tcC>tcT	p.S66S	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	66					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TTATGAATTCCTTCGTCACTG	0.468													C|||	1738	0.347045	0.0976	0.4366	5008	,	,		21573	0.6825		0.2922	False		,,,				2504	0.3313				p.S66S		.											.	HIST1H2BA-204	0			c.C198T						.	C		605,3801	265.3+/-266.6	47,511,1645	401	304	337		198	-5.9	0	6	dbSNP_111	337	2391,6209	398.2+/-346.0	339,1713,2248	no	coding-synonymous	HIST1H2BA	NM_170610.2		386,2224,3893	TT,TC,CC		27.8023,13.7313,23.0355		66/128	25727334	2996,10010	2203	4300	6503	SO:0001819	synonymous_variant	255626	exon1			GAATTCCTTCGTC	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"Histones / Replication-dependent"	18730	protein-coding gene	gene with protein product		609904	"H2B histone family, member U, (testis-specific)", "histone 1, H2ba"			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.198C>T	6.37:g.25727334C>T		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	93	5	NM_170610	0	0	0	0	0	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Silent	SNP	ENST00000274764.2	37	CCDS4563.1																																																																																			C|0.679;T|0.321		0.468	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		T	25727334	C	T	25727334	2	4	50	1	0	0	0	0	0	0	0	1	7167	668	24	3		3	HIST1H2BA	6	25727334	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	9399419	25727334	145387733	40	10433											
COL21A1	81578	bcgsc.ca	37	chr6	56044578	56044578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacgtcatcttgggaTttgccatccgtaagtaccac	8	12	2	1	rs2038149	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:56044578T>C	ENST00000244728.5	-	3	835	c.438A>G	c.(436-438)aaA>aaG	p.K146K	COL21A1_ENST00000370819.1_Silent_p.K146K|COL21A1_ENST00000535941.1_Silent_p.K146K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	146	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(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)			CATCTTGGGATTTGCCATCCG	0.438													T|||	3460	0.690895	0.6225	0.5677	5008	,	,		21148	0.8631		0.6272	False		,,,				2504	0.7587				p.K146K		.											.	COL21A1-24	0			c.A438G						.	T		2568,1448		815,938,255	100	95	97		438	4.8	1	6	dbSNP_94	97	5406,2944		1767,1872,536	no	coding-synonymous	COL21A1	NM_030820.3		2582,2810,791	CC,CT,TT		35.2575,36.0558,35.5167		146/958	56044578	7974,4392	2008	4175	6183	SO:0001819	synonymous_variant	81578	exon3			TTGGGATTTGCCA	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.438A>G	6.37:g.56044578T>C		Somatic	213	3		WXS	Illumina GAIIx	Phase_I	198	8	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																			T|0.330;C|0.670		0.438	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			C	56044578	T	C	56044578	2	2	50	1	0	0	0	0	0	0	0	1	3687	1490	52	4		4	COL21A1	6	56044578	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	30317244	56044578	115070489	41	10434											
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20418693	20418693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccgaagctaattttatGctgaaagttcatcctctgaa	9	8	2	2	rs374723970		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:20418693G>A	ENST00000222573.4	+	4	1092	c.408G>A	c.(406-408)atG>atA	p.M136I	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Start_Codon_SNP_p.M1I	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	136					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						CTAATTTTATGCTGAAAGTTC	0.308																																					p.M136I		.											.	ITGB8-227	0			c.G408A						.						66	77	73					7																	20418693		2175	4296	6471	SO:0001583	missense	3696	exon4			TTTTATGCTGAAA		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.408G>A	7.37:g.20418693G>A	ENSP00000222573:p.Met136Ile	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	28	9	NM_002214	0	0	0	0	0	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149579	0.21288	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92348	-2.56;-3.02	5.42	2.56	0.30785	Integrin beta subunit, N-terminal (2);	0.114120	0.64402	N	0.000011	T	0.79370	0.4434	N	0.05441	-0.05	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.68398	-0.5419	10	0.34782	T	0.22	-11.2388	4.7624	0.13115	0.1363:0.121:0.6176:0.125	.	136;136	P26012;Q9BUG9	ITB8_HUMAN;.	I	1;136	ENSP00000441561:M1I;ENSP00000222573:M136I	ENSP00000222573:M136I	M	+	3	0	ITGB8	20385218	0.993000	0.37304	0.999000	0.59377	0.964000	0.63967	0.767000	0.26575	0.737000	0.32582	-0.142000	0.14014	ATG	.		0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		A	20418693	G	A	20418693	3	1	50	1	0	0	0	0	1	0	0	0	7928	1319	46	3	422	3	ITGB8	7	20418693	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		20418693	138719970	42	10435											
GARS	2617	hgsc.bcm.edu	37	chr7	30634630	30634630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagcccgaccctcgctcctGctccgccggtccctcagcgc	9	21	1	0	rs2529438	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:30634630G>C	ENST00000389266.3	+	1	334	c.93G>C	c.(91-93)ctG>ctC	p.L31L	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	31					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)	CCTCGCTCCTGCTCCGCCGGT	0.741													G|||	705	0.140775	0.1218	0.0994	5008	,	,		12290	0.1776		0.0726	False		,,,				2504	0.228				p.L31L		.											.	GARS-91	0			c.G93C						.	G		360,3594		14,332,1631	6	8	7		93	2.7	0	7	dbSNP_100	7	669,7413		24,621,3396	no	coding-synonymous	GARS	NM_002047.2		38,953,5027	CC,CG,GG		8.2777,9.1047,8.5494		31/740	30634630	1029,11007	1977	4041	6018	SO:0001819	synonymous_variant	2617	exon1			GCTCCTGCTCCGC	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.93G>C	7.37:g.30634630G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_002047	0	0	1	3	2	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			G|0.889;C|0.111		0.741	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		C	30634630	G	C	30634630	2	2	50	1	0	0	0	0	0	0	0	1	6267	1306	46	3		3	GARS	7	30634630	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	10215937	30634630	128504033	43	10436											
EPDR1	54749	hgsc.bcm.edu	37	chr7	37960577	37960577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctccgcaccgtcccgggCgccctgggtgcctggctgct	13	20	0	0	rs147877097	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:37960577C>A	ENST00000199448.4	+	1	415	c.36C>A	c.(34-36)ggC>ggA	p.G12G	EPDR1_ENST00000559325.1_Silent_p.G132G|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Silent_p.G12G	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	12					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGTCCCGGGCGCCCTGGGTG	0.786													C|||	20	0.00399361	8e-04	0.0159	5008	,	,		11784	0		0.007	False		,,,				2504	0.001				p.G12G		.											.	EPDR1-91	0			c.C36A						.	C		8,3816		0,8,1904	4	5	5		396	-1.9	0	7	dbSNP_134	5	83,7553		1,81,3736	no	coding-synonymous	EPDR1	NM_017549.4		1,89,5640	AA,AC,CC		1.087,0.2092,0.7941		132/345	37960577	91,11369	1912	3818	5730	SO:0001819	synonymous_variant	54749	exon1			CCCGGGCGCCCTG	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.36C>A	7.37:g.37960577C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_001242946	0	0	1	1	0	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																			C|0.995;A|0.005		0.786	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		A	37960577	C	A	37960577	2	1	50	1	0	0	0	0	0	0	0	1	5179	755	27	2		2	EPDR1	7	37960577	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	7325947	37960577	121178086	44	10437											
GLI3	2737	hgsc.bcm.edu	37	chr7	42005050	42005050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatagcccccagcaggcccGctcctcaaggggttctgcgg	13	15	2	1	rs374797309		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:42005050G>T	ENST00000395925.3	-	15	3705	c.3621C>A	c.(3619-3621)agC>agA	p.S1207R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1207					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCAGGCCCGCTCCTCAAGG	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.S1207R		.											.	GLI3-1149	0			c.C3621A						.						44	53	50					7																	42005050		2203	4300	6503	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	AGGCCCGCTCCTC		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3621C>A	7.37:g.42005050G>T	ENSP00000379258:p.Ser1207Arg	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	61	4	NM_000168	0	0	3	3	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562846	0.27915	.	.	ENSG00000106571	ENST00000395925	T	0.14144	2.53	5.59	-10.7	0.00240	.	1.414730	0.03939	N	0.286529	T	0.13457	0.0326	L	0.39898	1.24	0.09310	N	0.999992	B	0.13145	0.007	B	0.06405	0.002	T	0.39961	-0.9588	10	0.20046	T	0.44	.	23.7814	0.99985	0.2226:0.0:0.7774:0.0	.	1207	P10071	GLI3_HUMAN	R	1207	ENSP00000379258:S1207R	ENSP00000379258:S1207R	S	-	3	2	GLI3	41971575	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.515000	0.06290	-1.981000	0.00989	-0.768000	0.03414	AGC	G|1.000;T|0.000		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42005050	G	T	42005050	3	4	50	1	0	0	0	0	1	0	0	0	6465	1078	38	2	1125	2	GLI3	7	42005050	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	4044473	42005050	117133613	45	10438											
MYO1G	64005	hgsc.bcm.edu;mdanderson.org	37	chr7	45002430	45002430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccacggagatgaggcGccggaccccgcgatggctta	16	13	0	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:45002430G>A	ENST00000258787.7	-	22	3101	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	RP4-647J21.1_ENST00000568457.1_RNA	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	989	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGATGAGGCGCCGGACCCCG	0.736																																					p.R989C		.											.	MYO1G-137	0			c.C2965T						.						6	8	7					7																	45002430		2080	4152	6232	SO:0001583	missense	64005	exon22			TGAGGCGCCGGAC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2965C>T	7.37:g.45002430G>A	ENSP00000258787:p.Arg989Cys	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	105	64	NM_033054	0	0	0	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949537	0.34377	.	.	ENSG00000136286	ENST00000258787	T	0.36157	1.27	4.38	3.48	0.39840	Myosin tail 2 (1);	0.000000	0.37095	U	0.002243	T	0.28665	0.0710	L	0.51853	1.615	0.25284	N	0.989418	B	0.33857	0.429	B	0.28232	0.087	T	0.13764	-1.0497	10	0.39692	T	0.17	.	9.9021	0.41353	0.0:0.0:0.6315:0.3685	.	989	B0I1T2	MYO1G_HUMAN	C	989	ENSP00000258787:R989C	ENSP00000258787:R989C	R	-	1	0	MYO1G	44968955	0.990000	0.36364	0.409000	0.26459	0.886000	0.51366	1.653000	0.37323	0.946000	0.37632	0.555000	0.69702	CGC	.		0.736	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45002430	G	A	45002430	3	1	50	1	0	0	0	0	1	0	0	0	10112	1087	38	1	95	1	MYO1G	7	45002430	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	2997380	45002430	114136233	46	10439											
SND1	27044	hgsc.bcm.edu	37	chr7	127292433	127292434	+	In_Frame_Ins	INS	-	-	TCCTCCGCGCAGAGCGGCGGC													ttgcatctccacacatggcgINStcctccgcgcagagcggcgg					rs552710042	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:127292433_127292434insTCCTCCGCGCAGAGCGGCGGC	ENST00000354725.3	+	1	200_201	c.6_7insTCCTCCGCGCAGAGCGGCGGC	c.(7-9)tcc>TCCTCCGCGCAGAGCGGCGGCtcc	p.3_3S>SSAQSGGS	AC073934.6_ENST00000490314.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	3					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)	p.A2_S3insSSAQSGG(1)		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						CACACATGGCGTCCTCCGCGCA	0.678														52	0.0103834	0	0	5008	,	,		17286	0		0.004	False		,,,				2504	0.0491				p.A2delinsASSAQSGG		.											.	SND1-92	1	Insertion - In frame(1)	central_nervous_system(1)	c.6_7insTCCTCCGCGCAGAGCGGCGGC						.																																			SO:0001652	inframe_insertion	27044	exon1			CATGGCGTCCTCC		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.7_27dupTCCTCCGCGCAGAGCGGCGGC	7.37:g.127292433_127292434insTCCTCCGCGCAGAGCGGCGGC	Exception_encountered	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	246	0	NM_014390	0	0	0	0	0	Q13122|Q96AG0	In_Frame_Ins	INS	ENST00000354725.3	37	CCDS34747.1																																																																																			.		0.678	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		TCCTCCGCGCAGAGCGGCGGC	127292434	-	TCCTCCGCGCAGAGCGGCGGC	127292433	7	5	50	1	0	1	1	0	0	0	0	0	14889	1132	40	0	8	0	SND1	7	127292433	In_Frame_Ins	INS	-	TCGA-OR-A5LC-01A-11D-A29I-10	82290003	127292433	31846230	47	10440											
ZNF775	285971	broad.mit.edu	37	chr7	150093920	150093920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgcgggaagaggttcagCtggtggtcgtccctgaagat	16	8	1	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:150093920C>A	ENST00000329630.5	+	3	458	c.351C>A	c.(349-351)agC>agA	p.S117R		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGTTCAGCTGGTGGTCGT	0.667																																					p.S117R		.											.	ZNF775-90	0			c.C351A						.						13	17	16					7																	150093920		2163	4284	6447	SO:0001583	missense	285971	exon3			GTTCAGCTGGTGG	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.351C>A	7.37:g.150093920C>A	ENSP00000330838:p.Ser117Arg	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	36	3	NM_173680	0	0	2	2	0	Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612813	0.46631	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.15834	2.39;2.39;2.39	4.61	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22322	0.0538	N	0.24115	0.695	0.27087	N	0.962945	D	0.71674	0.998	D	0.66497	0.944	T	0.06661	-1.0814	9	0.40728	T	0.16	.	7.9261	0.29876	0.0:0.7776:0.0:0.2224	.	117	Q96BV0	ZN775_HUMAN	R	117	ENSP00000419336:S117R;ENSP00000330838:S117R;ENSP00000417483:S117R	ENSP00000330838:S117R	S	+	3	2	ZNF775	149724853	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.007000	0.12810	1.173000	0.42796	0.555000	0.69702	AGC	.		0.667	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		A	150093920	C	A	150093920	3	1	50	1	0	0	0	0	1	0	0	0	18196	796	28	3	357	3	ZNF775	7	150093920	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	22801487	150093920	9044743	48	10441											
ASB10	136371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	150873649	150873649	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggccttggaatctgaCctgcagagtttcaggagtca	12	9	4	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:150873649C>A	ENST00000420175.2	-	4	1243		c.e4+1		GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Splice_Site|ASB10_ENST00000434669.1_Intron|ASB10_ENST00000377867.3_Splice_Site|ASB10_ENST00000275838.1_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAATCTGACCTGCAGAGTT	0.577																																					.		.											.	ASB10-226	0			c.1173+1G>T						.						34	37	36					7																	150873649		692	1591	2283	SO:0001630	splice_region_variant	136371	exon5			ATCTGACCTGCAG	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1218+1G>T	7.37:g.150873649C>A		Somatic	234	0		WXS	Illumina GAIIx	Phase_I	288	133	NM_080871	0	0	0	0	0	A0AVH0|Q6ZUL6	Splice_Site	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586167	0.86851	.	.	ENSG00000146926	ENST00000377867;ENST00000422024;ENST00000420175	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8245	0.85927	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASB10	150504582	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.240000	0.72363	2.284000	0.76573	0.561000	0.74099	.	.		0.577	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871	Intron	A	150873649	C	A	150873649	5	1	50	1	0	0	0	0	0	0	1	0	1015	521	18	3	192	3	ASB10	7	150873649	Splice_Site	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	779729	150873649	8265014	49	10442											
UBE3C	9690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	157041208	157041208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctttctgaagagctaCgaagacgatgtggaggagct	13	7	2	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:157041208C>T	ENST00000348165.5	+	19	2988	c.2628C>T	c.(2626-2628)taC>taT	p.Y876Y		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	876	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAAGAGCTACGAAGACGATG	0.522																																					p.Y876Y		.											.	UBE3C-704	0			c.C2628T						.						171	174	173					7																	157041208		2203	4300	6503	SO:0001819	synonymous_variant	9690	exon19			GAGCTACGAAGAC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2628C>T	7.37:g.157041208C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	109	7	NM_014671	0	0	11	11	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	CCDS34789.1																																																																																			.		0.522	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		T	157041208	C	T	157041208	2	4	50	1	0	0	0	0	0	0	0	1	16930	547	19	1		1	UBE3C	7	157041208	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	6167559	157041208	2097455	50	10443											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	114186110	114186110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atataatacacctttgggtgGaacaccaggatttccacaag	8	9	0	0	rs201775807		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:114186110G>A	ENST00000297405.5	-	4	794	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P184S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P144S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P184S|CSMD3_ENST00000519485.1_5'Flank	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	184	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTGGGTGGAACACCAGGA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P184S		.											.	CSMD3-1132	0			c.C550T						.						85	79	81					8																	114186110		2203	4300	6503	SO:0001583	missense	114788	exon4			TGGGTGGAACACC	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.550C>T	8.37:g.114186110G>A	ENSP00000297405:p.Pro184Ser	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	78	31	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177304	0.38413	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000019	T	0.74207	0.3686	M	0.84156	2.68	0.33509	D	0.590939	B;D;P;B	0.55385	0.392;0.971;0.58;0.253	B;P;B;B	0.55455	0.315;0.776;0.254;0.15	T	0.81150	-0.1064	10	0.33940	T	0.23	.	12.9254	0.58257	0.0:0.0:0.838:0.162	.	184;184;184;144	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	144;184;184;184	ENSP00000345799:P144S;ENSP00000297405:P184S;ENSP00000412263:P184S;ENSP00000343124:P184S	ENSP00000297405:P184S	P	-	1	0	CSMD3	114255286	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	4.623000	0.61247	2.537000	0.85549	0.655000	0.94253	CCA	G|0.999;C|0.001		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	114186110	G	A	114186110	3	1	50	1	0	0	0	0	1	0	0	0	3955	1174	41	3	10845	3	CSMD3	8	114186110	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		114186110	32177912	51	10444											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	50	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	30815478	145001588	1362434	52	10445											
OPLAH	26873	hgsc.bcm.edu	37	chr8	145107390	145107390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggcccccaggatgaCatccaccacgcgctgcgacg	10	18	0	1	rs185836803	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:145107390C>T	ENST00000426825.1	-	23	3346	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1089				QRVVDV -> NAWWMF (in Ref. 4; AAB81519). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGGATGACATCCACCACG	0.746													C|||	20	0.00399361	8e-04	0.0101	5008	,	,		10202	0		0.0109	False		,,,				2504	0.001				p.V1089I		.											.	OPLAH-68	0			c.G3265A						.	C	ILE/VAL	6,3568		0,6,1781	4	5	5		3265	4.4	1	8		5	61,7691		0,61,3815	no	missense	OPLAH	NM_017570.3	29	0,67,5596	TT,TC,CC		0.7869,0.1679,0.5916	probably-damaging	1089/1289	145107390	67,11259	1787	3876	5663	SO:0001583	missense	26873	exon23			GGATGACATCCAC	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3265G>A	8.37:g.145107390C>T	ENSP00000475943:p.Val1089Ile	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	15	NM_017570	0	0	14	30	16	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	14.93	2.683579	0.47991	0.001679	0.007869	ENSG00000178814	ENST00000426825	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	.	.	.	0.35089	D	0.764157	D	0.61697	0.99	D	0.66497	0.944	T	0.80462	-0.1372	7	0.56958	D	0.05	.	14.8924	0.70620	0.0:1.0:0.0:0.0	.	1089	O14841	OPLA_HUMAN	I	1089	.	ENSP00000412071:V1089I	V	-	1	0	OPLAH	145179378	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.973000	0.63763	2.164000	0.68074	0.643000	0.83706	GTC	C|0.998;T|0.002		0.746	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		T	145107390	C	T	145107390	3	4	50	1	0	0	0	0	1	0	0	0	10915	478	17	3	623	3	OPLAH	8	145107390	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	105802	145107390	1256632	53	10446											
UBAP2	55833	bcgsc.ca	37	chr9	33941759	33941759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctactggactagcagaaTtcagtgatgagcttgtcaga	11	7	2	4	rs307658	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:33941759T>C	ENST00000379238.1	-	16	1934	c.1817A>G	c.(1816-1818)aAt>aGt	p.N606S	UBAP2_ENST00000379239.4_Missense_Mutation_p.N339S|UBAP2_ENST00000379225.1_Missense_Mutation_p.N239S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N361S|UBAP2_ENST00000418786.2_Missense_Mutation_p.N553S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N606S|UBAP2_ENST00000449054.1_Missense_Mutation_p.N606S					ubiquitin associated protein 2									p.N606S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTAGCAGAATTCAGTGATGA	0.448													C|||	1857	0.370807	0.5083	0.268	5008	,	,		18167	0.1726		0.3837	False		,,,				2504	0.4489				p.N606S		.											.	UBAP2-94	1	Substitution - Missense(1)	stomach(1)	c.A1817G						.	C	SER/ASN	2060,2346	607.3+/-390.9	478,1104,621	174	159	164		1817	5.8	1	9	dbSNP_79	164	3291,5309	646.8+/-400.3	648,1995,1657	yes	missense	UBAP2	NM_018449.2	46	1126,3099,2278	CC,CT,TT		38.2674,46.7544,41.1425	benign	606/1120	33941759	5351,7655	2203	4300	6503	SO:0001583	missense	55833	exon16			GCAGAATTCAGTG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1817A>G	9.37:g.33941759T>C	ENSP00000368540:p.Asn606Ser	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	85	4	NM_018449	0	0	3	3	0		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	778	0.35622710622710624	248	0.5040650406504065	106	0.292817679558011	114	0.1993006993006993	310	0.40897097625329815	C	1.094	-0.663234	0.03428	0.467544	0.382674	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.79;2.79;2.79;2.58;2.59;2.28;2.05	5.76	5.76	0.90799	.	0.521330	0.23587	N	0.046596	T	0.00012	0.0000	N	0.01015	-1.05	0.58432	P	4.000000000004E-6	B;B;B;B;B;B;B;B	0.17038	0.0;0.006;0.0;0.0;0.0;0.001;0.003;0.02	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.002	T	0.41124	-0.9526	9	0.02654	T	1	-4.2248	12.9291	0.58276	0.0:0.866:0.0:0.134	rs307658;rs601694;rs1626808;rs52833981;rs60695207;rs307658	553;531;361;339;515;239;531;606	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	S	606;606;606;515;339;361;553;239	ENSP00000368540:N606S;ENSP00000416932:N606S;ENSP00000354039:N606S;ENSP00000368541:N339S;ENSP00000439329:N361S;ENSP00000404436:N553S;ENSP00000368527:N239S	ENSP00000354039:N606S	N	-	2	0	UBAP2	33931759	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.117000	0.41939	1.449000	0.47699	-0.119000	0.15052	AAT	T|0.481;G|0.077		0.448	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		C	33941759	T	C	33941759	3	2	50	1	0	0	0	0	1	0	0	0	16886	1493	52	4	1598	4	UBAP2	9	33941759	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10		33941759	107271672	54	10447											
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35716437	35716437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagctaggatcttggcagCacttaagagcttgcgggagt	13	8	2	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:35716437C>T	ENST00000314888.9	-	20	2928	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	TLN1_ENST00000540444.1_Missense_Mutation_p.A859T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	859					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)			ATCTTGGCAGCACTTAAGAGC	0.562																																					p.A859T		.											.	TLN1-609	0			c.G2575A						.						168	143	152					9																	35716437		2203	4300	6503	SO:0001583	missense	7094	exon20			TGGCAGCACTTAA	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.2575G>A	9.37:g.35716437C>T	ENSP00000316029:p.Ala859Thr	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	101	86	NM_006289	0	0	2	7	5	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039753	0.93630	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71817	-0.59;-0.6	5.91	5.0	0.66597	.	0.049023	0.85682	D	0.000000	T	0.77980	0.4212	L	0.60067	1.865	0.80722	D	1	P	0.45672	0.864	P	0.53401	0.725	T	0.78831	-0.2049	10	0.49607	T	0.09	-10.119	17.1715	0.86832	0.0:0.8739:0.1261:0.0	.	859	Q9Y490	TLN1_HUMAN	T	859	ENSP00000316029:A859T;ENSP00000442981:A859T	ENSP00000316029:A859T	A	-	1	0	TLN1	35706437	1.000000	0.71417	0.942000	0.38095	0.997000	0.91878	7.818000	0.86416	1.485000	0.48380	0.655000	0.94253	GCT	.		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35716437	C	T	35716437	3	4	50	1	0	0	0	0	1	0	0	0	15994	710	25	3	5202	3	TLN1	9	35716437	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	1774678	35716437	105496994	55	10448											
VPS13A	23230	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	79954597	79954597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaagacattagttttgtcAgttttacttgtgttacagaa	8	5	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:79954597A>T	ENST00000360280.3	+	48	6804	c.6544A>T	c.(6544-6546)Agt>Tgt	p.S2182C	VPS13A_ENST00000376636.3_Missense_Mutation_p.S2143C|VPS13A_ENST00000376634.4_Missense_Mutation_p.S2182C|VPS13A_ENST00000357409.5_Missense_Mutation_p.S2182C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2182					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						TAGTTTTGTCAGTTTTACTTG	0.348																																					p.S2182C		.											.	VPS13A-161	0			c.A6544T						.						111	99	103					9																	79954597		2203	4300	6503	SO:0001583	missense	23230	exon48			TTTGTCAGTTTTA	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.6544A>T	9.37:g.79954597A>T	ENSP00000353422:p.Ser2182Cys	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	100	49	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732835	0.30684	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50001	0.93;0.76;0.84;0.93	5.96	5.96	0.96718	.	0.652135	0.16114	N	0.228957	T	0.49115	0.1538	L	0.36672	1.1	0.80722	D	1	B;P;P;P	0.50528	0.002;0.77;0.936;0.852	B;P;P;P	0.48627	0.015;0.497;0.584;0.487	T	0.43589	-0.9382	10	0.44086	T	0.13	.	16.4221	0.83766	1.0:0.0:0.0:0.0	.	2143;2182;2182;2182	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	C	2182;2143;2182;2182	ENSP00000365821:S2182C;ENSP00000365823:S2143C;ENSP00000353422:S2182C;ENSP00000349985:S2182C	ENSP00000349985:S2182C	S	+	1	0	VPS13A	79144417	0.992000	0.36948	0.965000	0.40720	0.358000	0.29455	5.638000	0.67861	2.283000	0.76528	0.477000	0.44152	AGT	.		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79954597	A	T	79954597	3	4	50	1	0	0	0	0	1	0	0	0	17238	188	7	5	6734	5	VPS13A	9	79954597	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	44238160	79954597	61258834	56	10449											
ALG2	10952	hgsc.bcm.edu	37	chr9	101984160	101984160	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgagtcccgttcccggCcctgctcctccgccatggcc	10	20	0	0	rs180849348	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:101984160C>G	ENST00000223641.4	+	0	0				SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_Missense_Mutation_p.G6A	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CCGTTCCCGGCCCTGCTCCTC	0.716													C|||	13	0.00259585	0	0.0058	5008	,	,		13219	0		0.008	False		,,,				2504	0.001				p.G6A		.											.	ALG2-92	0			c.G17C						.	C	ALA/GLY	9,4289		0,9,2140	8	11	10		17	-9.3	0	9		10	63,8427		0,63,4182	no	missense	ALG2	NM_033087.3	60	0,72,6322	GG,GC,CC		0.742,0.2094,0.563	benign	6/417	101984160	72,12716	2149	4245	6394	SO:0001631	upstream_gene_variant	85365	exon1			TCCCGGCCCTGCT	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101984160C>G	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_033087	0	0	0	5	5	P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	C	5.553	0.286952	0.10513	0.002094	0.00742	ENSG00000119523	ENST00000476832	T	0.75704	-0.96	4.66	-9.32	0.00643	.	4.053130	0.00559	N	0.000271	T	0.43433	0.1247	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.52548	-0.8561	10	0.10377	T	0.69	-0.3523	14.1304	0.65250	0.0:0.5322:0.3647:0.103	.	6	Q9H553	ALG2_HUMAN	A	6	ENSP00000417764:G6A	ENSP00000417764:G6A	G	-	2	0	ALG2	101023981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.560000	0.02160	-3.366000	0.00178	-3.473000	0.00035	GGC	C|0.996;G|0.004		0.716	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		G	101984160	C	G	101984160	1	3	50	0	1	0	0	0	0	0	0	0	519	739	26	3		3	ALG2	9	101984160	5'Flank	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	22029563	101984160	39229271	57	10450											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	15	3	2	4	rs79064394		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	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		.											.	CSGALNACT2-69	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	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	194	4	NM_018590	0	0	2	2	0	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	50	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		43659419	91875328	58	10451											
NPFFR1	64106	hgsc.bcm.edu	37	chr10	72014863	72014863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgactcagagggcagcccGgagtcgctgggccgcaccac	14	17	1	1	rs60225321	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:72014863G>A	ENST00000277942.6	-	4	1142	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	381					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						AGGGCAGCCCGGAGTCGCTGG	0.751													G|||	392	0.0782748	0.1165	0.0303	5008	,	,		10955	0.0942		0.0487	False		,,,				2504	0.0746				p.S381S		.											.	NPFFR1-22	0			c.C1143T						.	G		209,2965		3,203,1381	3	5	4		1143	-9.4	0.2	10	dbSNP_129	4	215,6851		0,215,3318	no	coding-synonymous	NPFFR1	NM_022146.4		3,418,4699	AA,AG,GG		3.0427,6.5848,4.1406		381/431	72014863	424,9816	1587	3533	5120	SO:0001819	synonymous_variant	64106	exon4			CAGCCCGGAGTCG	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.1143C>T	10.37:g.72014863G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	11	NM_022146	0	0	0	0	0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																			G|0.929;A|0.071		0.751	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		A	72014863	G	A	72014863	2	1	50	1	0	0	0	0	0	0	0	1	10616	1103	39	1		1	NPFFR1	10	72014863	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	28355444	72014863	63519884	59	10452											
NRG3	10718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	84745227	84745227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagaagactacgaactgGccagcgtagaaaccgaggac	13	10	1	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:84745227G>A	ENST00000404547.1	+	10	2029	c.2029G>A	c.(2029-2031)Gcc>Acc	p.A677T	NRG3_ENST00000545131.1_Missense_Mutation_p.A303T|NRG3_ENST00000372142.2_Missense_Mutation_p.A456T|NRG3_ENST00000556918.1_Missense_Mutation_p.A483T|NRG3_ENST00000372141.2_Missense_Mutation_p.A653T|NRG3_ENST00000537893.1_Missense_Mutation_p.A303T|NRG3_ENST00000404576.2_Missense_Mutation_p.A457T			P56975	NRG3_HUMAN	neuregulin 3	677					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTACGAACTGGCCAGCGTAGA	0.473																																					p.A653T		.											.	NRG3-522	0			c.G1957A						.						73	69	71					10																	84745227		2203	4300	6503	SO:0001583	missense	10718	exon9			GAACTGGCCAGCG	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2029G>A	10.37:g.84745227G>A	ENSP00000384796:p.Ala677Thr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	96	43	NM_001010848	0	0	2	2	0	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525718	0.44969	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53640	1.28;1.23;1.22;0.61;1.17;0.72;0.72	5.54	5.54	0.83059	.	0.141395	0.47852	D	0.000217	T	0.55878	0.1948	N	0.21448	0.665	0.47511	D	0.999441	D;B;D;B	0.71674	0.998;0.319;0.998;0.208	D;B;D;B	0.81914	0.995;0.047;0.995;0.047	T	0.55897	-0.8068	10	0.44086	T	0.13	-29.8512	16.9886	0.86347	0.0:0.0:1.0:0.0	.	652;677;456;653	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	T	653;677;652;456;457;483;303;303	ENSP00000361214:A653T;ENSP00000384796:A677T;ENSP00000361215:A456T;ENSP00000385804:A457T;ENSP00000451376:A483T;ENSP00000441201:A303T;ENSP00000440377:A303T	ENSP00000361214:A653T	A	+	1	0	NRG3	84735207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.894000	0.48640	2.615000	0.88500	0.655000	0.94253	GCC	.		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		A	84745227	G	A	84745227	3	1	50	1	0	0	0	0	1	0	0	0	10688	1203	42	3	2235	3	NRG3	10	84745227	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	12730364	84745227	50789520	60	10453											
PIK3AP1	118788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	98386618	98386618	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacatcttcttcctgaccaaGatggcactgatctctctcca	5	14	4	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:98386618G>C	ENST00000339364.5	-	10	1635	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L328V|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.L105V	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	506					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGACCAAGATGGCACTGA	0.527																																					p.L506V		.											.	PIK3AP1-519	0			c.C1516G						.						189	158	168					10																	98386618		2203	4300	6503	SO:0001583	missense	118788	exon10			GACCAAGATGGCA	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1516C>G	10.37:g.98386618G>C	ENSP00000339826:p.Leu506Val	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	187	87	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	8.438	0.850279	0.17034	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.23950	2.9;2.22;1.88	5.77	2.71	0.32032	.	1.021040	0.07765	N	0.950715	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B;B	0.26547	0.066;0.152	B;B	0.24155	0.014;0.051	T	0.34477	-0.9827	10	0.10636	T	0.68	-0.061	5.9394	0.19184	0.0683:0.2215:0.504:0.2062	.	506;105	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	V	506;328;105	ENSP00000339826:L506V;ENSP00000360151:L328V;ENSP00000360150:L105V	ENSP00000339826:L506V	L	-	1	0	PIK3AP1	98376608	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.095000	0.11077	0.800000	0.34041	0.561000	0.74099	CTT	.		0.527	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		C	98386618	G	C	98386618	3	2	50	1	0	0	0	0	1	0	0	0	11947	942	33	3	933	3	PIK3AP1	10	98386618	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	13641391	98386618	37148129	61	10454											
GPAM	57678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	113924340	113924340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagtagagcagacaccGgtttctgactttggctttct	12	8	2	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:113924340G>A	ENST00000348367.4	-	13	1447	c.1250C>T	c.(1249-1251)cCg>cTg	p.P417L	GPAM_ENST00000423155.1_Missense_Mutation_p.P417L|GPAM_ENST00000369425.1_Missense_Mutation_p.P417L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	417					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.P417L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGCAGACACCGGTTTCTGACT	0.368																																					p.P417L	Ovarian(161;1017 2606 18293 52943)	.											.	GPAM-92	1	Substitution - Missense(1)	lung(1)	c.C1250T						.						67	70	69					10																	113924340		2203	4300	6503	SO:0001583	missense	57678	exon13			GACACCGGTTTCT	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1250C>T	10.37:g.113924340G>A	ENSP00000265276:p.Pro417Leu	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	100	48	NM_001244949	0	0	0	0	0	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990400	0.35131	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69306	-0.39;-0.39;-0.39	5.25	4.31	0.51392	.	0.188167	0.48767	D	0.000177	T	0.45696	0.1355	L	0.34521	1.04	0.50039	D	0.999849	P;P	0.41131	0.739;0.524	B;B	0.25614	0.062;0.043	T	0.42732	-0.9434	10	0.11182	T	0.66	-15.8771	13.1613	0.59547	0.0:0.0:0.84:0.16	.	417;417	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	L	417	ENSP00000265276:P417L;ENSP00000409242:P417L;ENSP00000358433:P417L	ENSP00000265276:P417L	P	-	2	0	GPAM	113914330	1.000000	0.71417	0.884000	0.34674	0.674000	0.39518	5.342000	0.65970	1.122000	0.41944	0.643000	0.83706	CCG	.		0.368	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113924340	G	A	113924340	3	1	50	1	0	0	0	0	1	0	0	0	6614	1116	39	1	1276	1	GPAM	10	113924340	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	15537722	113924340	21610407	62	10455											
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118318731	118318731	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactatgctgatagatatccTgggaaaacaaatgatgtggg	11	6	0	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:118318731T>G	ENST00000369221.2	+	10	1024	c.996T>G	c.(994-996)ccT>ccG	p.P332P		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	332					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ATAGATATCCTGGGAAAACAA	0.398																																					p.P332P		.											.	PNLIP-92	0			c.T996G						.						109	105	107					10																	118318731		2203	4300	6503	SO:0001819	synonymous_variant	5406	exon10			ATATCCTGGGAAA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.996T>G	10.37:g.118318731T>G		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	134	62	NM_000936	0	0	0	0	0	Q5VSQ2	Silent	SNP	ENST00000369221.2	37	CCDS7594.1																																																																																			.		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		G	118318731	T	G	118318731	2	3	50	1	0	0	0	0	0	0	0	1	12188	1567	55	5		5	PNLIP	10	118318731	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	4394391	118318731	17216016	63	10456											
C11orf35	256329	hgsc.bcm.edu	37	chr11	556372	556372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacgatcttcaggcctgtCgggctgggaagagaggagac	16	10	2	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:556372C>T	ENST00000329451.3	-	10	1139	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		359										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGCCTGTCGGGCTGGGAA	0.682																																					p.P359P		.											.	C11orf35-69	0			c.G1077A						.						7	8	8					11																	556372		1823	3457	5280	SO:0001819	synonymous_variant	256329	exon10			GCCTGTCGGGCTG																												ENST00000329451.3:c.1077G>A	11.37:g.556372C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_173573	0	0	0	1	1		Silent	SNP	ENST00000329451.3	37	CCDS7701.1																																																																																			.		0.682	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			T	556372	C	T	556372	2	4	50	1	0	0	0	0	0	0	0	1	1643	871	31	1		1	C11orf35	11	556372	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10		556372	134450144	64	10457											
CDHR5	53841	hgsc.bcm.edu	37	chr11	617593	617593	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggggcttccgccagctcGggccgctgcggggggctcag	19	14	1	0	rs137998609	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:617593G>C	ENST00000358353.3	-	16	2618	c.2296C>G	c.(2296-2298)Cga>Gga	p.R766G	IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397566.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.R572G|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.R766G|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	766					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCGCCAGCTCGGGCCGCTGCG	0.751													G|||	40	0.00798722	0	0.0187	5008	,	,		9721	0		0.0258	False		,,,				2504	0.001				p.R766G		.											.	CDHR5-90	0			c.C2296G						.	G	GLY/ARG,GLY/ARG,GLY/ARG	11,4313		0,11,2151	9	11	10		2278,2296,1714	-1.8	0	11	dbSNP_134	10	127,8371		1,125,4123	yes	missense,missense,missense	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	125,125,125	1,136,6274	CC,CG,GG		1.4945,0.2544,1.0763	benign,benign,benign	760/840,766/846,572/652	617593	138,12684	2162	4249	6411	SO:0001583	missense	53841	exon15			CAGCTCGGGCCGC	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2296C>G	11.37:g.617593G>C	ENSP00000351118:p.Arg766Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	19	NM_021924	0	0	0	37	37	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	22	0.010073260073260074	0	0.0	5	0.013812154696132596	0	0.0	17	0.022427440633245383	G	4.342	0.062983	0.08388	0.002544	0.014945	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.41758	1.13;1.13;0.99	3.43	-1.76	0.08006	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.08055	0.0;0.002;0.003	T	0.17806	-1.0357	9	0.27082	T	0.32	4.1475	8.5493	0.33442	0.0:0.4378:0.4164:0.1457	.	760;572;766	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	G	766;766;572	ENSP00000380676:R766G;ENSP00000351118:R766G;ENSP00000345726:R572G	ENSP00000345726:R572G	R	-	1	2	CDHR5	607593	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.967000	0.03821	-0.419000	0.07439	-1.560000	0.00886	CGA	G|0.990;C|0.010		0.751	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	617593	G	C	617593	3	2	50	1	0	0	0	0	1	0	0	0	3129	1124	39	2	245	2	CDHR5	11	617593	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	61221	617593	134388923	65	10458											
MUC5B	727897	ucsc.edu;bcgsc.ca	37	chr11	1253942	1253942	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgcgctgtcctcctaTgtgcacgcctgtgccgccaa	11	17	0	0	rs908229	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1253942T>C	ENST00000529681.1	+	17	2065	c.2007T>C	c.(2005-2007)taT>taC	p.Y669Y	MUC5B_ENST00000447027.1_Silent_p.Y672Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	669					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)		TGTCCTCCTATGTGCACGCCT	0.667													c|||	2729	0.544928	0.4803	0.6081	5008	,	,		18613	0.6548		0.498	False		,,,				2504	0.5225				p.Y669Y		.											.	.	0			c.T2007C						.	C		2580,1720		569,1442,139	26	30	29		2007	-2.7	0.3	11	dbSNP_86	29	5188,3312		1163,2862,225	no	coding-synonymous	MUC5B	NM_002458.2		1732,4304,364	CC,CT,TT		38.9647,40.0,39.3125		669/5763	1253942	7768,5032	2150	4250	6400	SO:0001819	synonymous_variant	727897	exon17			CTCCTATGTGCAC	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.2007T>C	11.37:g.1253942T>C		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	123	16	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			T|0.463;C|0.537		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1253942	T	C	1253942	2	2	50	1	0	0	0	0	0	0	0	1	10017	1471	51	4		4	MUC5B	11	1253942	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	636349	1253942	133752574	66	10459											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	102	10	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	50	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	38	1253980	133752536	67	10460											
MUC5B	727897	broad.mit.edu	37	chr11	1267340	1267340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacccttgggaccaCcgggaccctcccagaacaga	8	18	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1267340C>G	ENST00000529681.1	+	31	9288	c.9230C>G	c.(9229-9231)aCc>aGc	p.T3077S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3080S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3077	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTGGGACCACCGGGACCCTC	0.602																																					p.T3077S		.											.	.	0			c.C9230G						.						153	168	163					11																	1267340		2084	4196	6280	SO:0001583	missense	727897	exon31			GGACCACCGGGAC	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.9230C>G	11.37:g.1267340C>G	ENSP00000436812:p.Thr3077Ser	Somatic	335	0		WXS	Illumina GAIIx	Phase_I	187	5	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.329	0.246034	0.10077	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	2.14	0.961	0.19638	.	.	.	.	.	T	0.12944	0.0314	L	0.34521	1.04	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.09377	0.004;0.004	T	0.25710	-1.0124	9	0.87932	D	0	.	8.506	0.33188	0.0:0.3594:0.6406:0.0	.	3660;3080	A7Y9J9;E9PBJ0	.;.	S	3077;3080;3049;3037	ENSP00000436812:T3077S;ENSP00000415793:T3080S	ENSP00000343037:T3049S	T	+	2	0	MUC5B	1223916	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.667000	0.01961	0.242000	0.21303	0.413000	0.27773	ACC	.		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1267340	C	G	1267340	3	3	50	1	0	0	0	0	1	0	0	0	10017	507	18	3	9361	3	MUC5B	11	1267340	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	13360	1267340	133739176	68	10461											
BRSK2	9024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1471882	1471882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggacacctgtccacacGccaaaggagagcccggctgg	14	13	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1471882G>A	ENST00000528841.1	+	14	1737	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	BRSK2_ENST00000382179.1_Silent_p.T497T|BRSK2_ENST00000308230.5_Silent_p.T473T|BRSK2_ENST00000544817.1_Silent_p.T146T|BRSK2_ENST00000526678.1_Silent_p.T473T|BRSK2_ENST00000531197.1_Silent_p.T451T|BRSK2_ENST00000528710.1_Silent_p.T391T|BRSK2_ENST00000308219.9_Silent_p.T451T			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	451	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTGTCCACACGCCAAAGGAGA	0.662																																					p.T497T		.											.	BRSK2-333	0			c.G1491A						.																																			SO:0001819	synonymous_variant	9024	exon14			CCACACGCCAAAG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1353G>A	11.37:g.1471882G>A		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	80	67	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																			.		0.662	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		A	1471882	G	A	1471882	2	1	50	1	0	0	0	0	0	0	0	1	1528	1074	38	1		1	BRSK2	11	1471882	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	204542	1471882	133534634	69	10462											
PLCB3	5331	broad.mit.edu	37	chr11	64034712	64034712	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgggcagcagcaggTcctgcaacagctggcagaag	16	10	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:64034712T>G	ENST00000540288.1	+	30	3573	c.3470T>G	c.(3469-3471)gTc>gGc	p.V1157G	PLCB3_ENST00000279230.6_Missense_Mutation_p.V1157G|PLCB3_ENST00000325234.5_Missense_Mutation_p.V1090G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1157					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCAGCAGGTCCTGCAACAG	0.672																																					p.V1157G		.											.	PLCB3-228	0			c.T3470G						.						20	19	19					11																	64034712		1955	3801	5756	SO:0001583	missense	5331	exon30			AGCAGGTCCTGCA	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3470T>G	11.37:g.64034712T>G	ENSP00000443631:p.Val1157Gly	Somatic	161	17		WXS	Illumina GAIIx	Phase_I	140	20	NM_000932	0	0	35	35	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529126	0.44969	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.48201	0.82;0.82;0.82	4.42	3.27	0.37495	PLC-beta, C-terminal (1);	0.657339	0.15374	N	0.265705	T	0.39118	0.1066	L	0.36672	1.1	0.51767	D	0.999933	B;B	0.34200	0.441;0.42	B;B	0.40782	0.326;0.34	T	0.15983	-1.0418	10	0.39692	T	0.17	.	5.3292	0.15922	0.0:0.0924:0.1811:0.7265	.	1090;1157	G5E960;Q01970	.;PLCB3_HUMAN	G	1157;1157;1090	ENSP00000279230:V1157G;ENSP00000443631:V1157G;ENSP00000324660:V1090G	ENSP00000279230:V1157G	V	+	2	0	PLCB3	63791288	0.982000	0.34865	0.991000	0.47740	0.993000	0.82548	2.965000	0.49200	0.724000	0.32296	0.459000	0.35465	GTC	.		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			G	64034712	T	G	64034712	3	3	50	1	0	0	0	0	1	0	0	0	12068	1667	58	5	3588	5	PLCB3	11	64034712	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	62562830	64034712	70971804	70	10463											
GSTP1	2950	bcgsc.ca	37	chr11	67353579	67353579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgtctggcaggaggCgggcaaggatgactatgtga	19	5	1	2	rs1138272	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:67353579C>T	ENST00000398606.3	+	6	590	c.341C>T	c.(340-342)gCg>gTg	p.A114V	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Intron	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	114	GST C-terminal.		A -> V (in allele GSTP1*C; dbSNP:rs1138272). {ECO:0000269|PubMed:9092542, ECO:0000269|Ref.9}.		cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TGGCAGGAGGCGGGCAAGGAT	0.592													C|||	168	0.0335463	0.0053	0.0288	5008	,	,		17961	0.001		0.0706	False		,,,				2504	0.0706				p.A114V		.											.	GSTP1-91	0			c.C341T	GRCh37	CM992339	GSTP1	M	rs1138272	.	C	VAL/ALA	64,4078		0,64,2007	45	49	48		341	0.5	0.1	11	dbSNP_86	48	690,7706		30,630,3538	yes	missense	GSTP1	NM_000852.3	64	30,694,5545	TT,TC,CC		8.2182,1.5451,6.0137	benign	114/211	67353579	754,11784	2071	4198	6269	SO:0001583	missense	2950	exon6			AGGAGGCGGGCAA	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.341C>T	11.37:g.67353579C>T	ENSP00000381607:p.Ala114Val	Somatic	134	2		WXS	Illumina GAIIx	Phase_I	90	6	NM_000852	0	0	1	1	0	O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	CCDS41679.1	78	0.03571428571428571	6	0.012195121951219513	14	0.03867403314917127	0	0.0	58	0.07651715039577836	C	8.369	0.834825	0.16820	0.015451	0.082182	ENSG00000084207	ENST00000398606	T	0.04119	3.7	5.3	0.531	0.17108	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.968577	0.08415	N	0.949193	T	0.00328	0.0010	M	0.69463	2.115	0.31278	N	0.6908909999999999	P	0.36412	0.552	B	0.25987	0.065	T	0.32295	-0.9912	9	0.41790	T	0.15	-10.8933	6.256	0.20874	0.5618:0.3405:0.0:0.0977	rs1138272;rs1799811;rs1804665;rs3202011;rs4134657;rs11553894;rs17434783;rs52800258;rs61323549;rs1138272	114	P09211	GSTP1_HUMAN	V	114	ENSP00000381607:A114V	ENSP00000381607:A114V	A	+	2	0	GSTP1	67110155	0.091000	0.21658	0.114000	0.21550	0.111000	0.19643	0.198000	0.17217	0.169000	0.19679	0.563000	0.77884	GCG	C|0.954;T|0.046		0.592	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		T	67353579	C	T	67353579	3	4	50	1	0	0	0	0	1	0	0	0	6871	768	27	1	363	1	GSTP1	11	67353579	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	3318867	67353579	67652937	71	10464											
ODZ4	26011	broad.mit.edu	37	chr11	78498081	78498081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatcctcgcagcggcaggTgccccctacgcacacgccat	10	19	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:78498081T>G	ENST00000278550.7	-	16	2689	c.2227A>C	c.(2227-2229)Acc>Ccc	p.T743P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	743	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)										CAGCGGCAGGTGCCCCCTACG	0.692																																					p.T743P		.											.	.	0			c.A2227C						.						6	9	8					11																	78498081		2026	4087	6113	SO:0001583	missense	26011	exon16			GGCAGGTGCCCCC	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.2227A>C	11.37:g.78498081T>G	ENSP00000278550:p.Thr743Pro	Somatic	65	9		WXS	Illumina GAIIx	Phase_I	90	12	NM_001098816	0	0	0	0	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923588	0.73213	.	.	ENSG00000149256	ENST00000278550	T	0.03386	3.95	5.07	3.94	0.45596	EGF, extracellular (1);Epidermal growth factor-like (1);	0.106709	0.64402	D	0.000012	T	0.07863	0.0197	M	0.72894	2.215	0.38198	D	0.940111	P	0.45044	0.849	P	0.45406	0.479	T	0.18681	-1.0329	9	.	.	.	.	10.531	0.44977	0.0:0.0756:0.0:0.9244	.	743	Q6N022	TEN4_HUMAN	P	743	ENSP00000278550:T743P	.	T	-	1	0	ODZ4	78175729	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.921000	0.48852	0.973000	0.38340	0.459000	0.35465	ACC	.		0.692	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			G	78498081	T	G	78498081	3	3	50	1	0	0	0	0	1	0	0	0	10876	1696	59	5	6158	5	ODZ4	11	78498081	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	11144502	78498081	56508435	72	10465											
LST-3TM12	338821	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	21196449	21196449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctaaaaactaatgaTaaaaggaatcaaatagctaa	6	5	1	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:21196449T>C	ENST00000421593.2	+	6	768	c.768T>C	c.(766-768)gaT>gaC	p.D256D	SLCO1B7_ENST00000554957.1_Silent_p.D303D|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Silent_p.D303D	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACTAATGATAAAAGGAATC	0.289																																					p.D256D		.											.	.	0			c.T768C						.						58	59	59					12																	21196449		2171	4283	6454	SO:0001819	synonymous_variant	338821	exon6			TAATGATAAAAGG	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.768T>C	12.37:g.21196449T>C		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	27	11	NM_001009562	0	0	0	0	0	Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																			.		0.289	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		C	21196449	T	C	21196449	2	2	50	1	0	0	0	0	0	0	0	1	9101	1403	49	4		4	LST-3TM12	12	21196449	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10		21196449	112655446	73	10466											
SLC2A13	114134	hgsc.bcm.edu	37	chr12	40499118	40499118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgttggccgcagccaGcaccgcggagccggcggtga	16	13	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:40499118G>A	ENST00000280871.4	-	1	543	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLC2A13_ENST00000380858.1_Silent_p.L165L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	165					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCGCAGCCAGCACCGCGGAG	0.726										HNSCC(50;0.14)																											p.L165L		.											.	SLC2A13-515	0			c.C493T						.						7	10	9					12																	40499118		2150	4198	6348	SO:0001819	synonymous_variant	114134	exon1			CAGCCAGCACCGC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.493C>T	12.37:g.40499118G>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	93	50	NM_052885	0	0	0	2	2	Q17S07	Silent	SNP	ENST00000280871.4	37	CCDS8736.2																																																																																			.		0.726	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			A	40499118	G	A	40499118	2	1	50	1	0	0	0	0	0	0	0	1	14587	962	34	3		3	SLC2A13	12	40499118	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	19302669	40499118	93352777	74	10467											
TMEM19	55266	hgsc.bcm.edu;broad.mit.edu	37	chr12	72091182	72091182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttttccaagcagtactccGcttcctggatgtgtttgtct	8	10	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:72091182G>T	ENST00000266673.5	+	4	1099	c.505G>T	c.(505-507)Gct>Tct	p.A169S	TMEM19_ENST00000549735.1_Missense_Mutation_p.A169S|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	169						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GCAGTACTCCGCTTCCTGGAT	0.517																																					p.A169S		.											.	TMEM19-90	0			c.G505T						.						103	103	103					12																	72091182		2203	4300	6503	SO:0001583	missense	55266	exon4			TACTCCGCTTCCT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.505G>T	12.37:g.72091182G>T	ENSP00000266673:p.Ala169Ser	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	72	4	NM_018279	0	0	5	5	0	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872369	0.72180	.	.	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735;ENST00000546677;ENST00000546795	.	.	.	5.94	5.94	0.96194	.	0.049668	0.85682	D	0.000000	T	0.72771	0.3502	L	0.46567	1.45	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.71656	0.974;0.869	T	0.63296	-0.6669	9	0.11485	T	0.65	-15.4776	20.3736	0.98901	0.0:0.0:1.0:0.0	.	169;169	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	S	169;169;169;68;13	.	ENSP00000266673:A169S	A	+	1	0	TMEM19	70377449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.717000	0.98755	2.820000	0.97059	0.650000	0.86243	GCT	.		0.517	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		T	72091182	G	T	72091182	3	4	50	1	0	0	0	0	1	0	0	0	16160	1087	38	2	519	2	TMEM19	12	72091182	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	31592064	72091182	61760713	75	10468											
GALNT4	8693	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	89916603	89916603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctctatttctcaaaaCtccaaatttgatttttatct	3	8	3	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:89916603C>T	ENST00000529983.2	-	1	1980	c.1724G>A	c.(1723-1725)aGt>aAt	p.S575N	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.S572N|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.S403N	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	575	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						TTTCTCAAAACTCCAAATTTG	0.418																																					p.S575N		.											.	.	0			c.G1724A						.						107	107	107					12																	89916603		1861	4099	5960	SO:0001583	missense	8693	exon1			TCAAAACTCCAAA	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.1724G>A	12.37:g.89916603C>T	ENSP00000436604:p.Ser575Asn	Somatic	80	2		WXS	Illumina GAIIx	Phase_I	104	25	NM_003774	0	0	0	0	0	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385602	0.25031	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.29917	1.55;1.55;1.55	5.93	3.0	0.34707	Ricin B-related lectin (1);Ricin B lectin (2);	.	.	.	.	T	0.23330	0.0564	L	0.45228	1.405	0.26354	N	0.977159	B;B	0.19200	0.034;0.006	B;B	0.20384	0.029;0.013	T	0.22487	-1.0215	9	0.25106	T	0.35	.	6.0697	0.19883	0.0:0.4959:0.0:0.5041	.	572;575	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	N	572;403;575	ENSP00000447852:S572N;ENSP00000389686:S403N;ENSP00000436604:S575N	ENSP00000436604:S575N	S	-	2	0	GALNT4;RP11-1109F11.4	88440734	0.992000	0.36948	0.997000	0.53966	0.975000	0.68041	1.655000	0.37345	0.748000	0.32831	0.591000	0.81541	AGT	.		0.418	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89916603	C	T	89916603	3	4	50	1	0	0	0	0	1	0	0	0	6240	565	20	3	16	3	GALNT4	12	89916603	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	17825421	89916603	43935292	76	10469											
C12orf65	91574	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123738436	123738436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggacacggtccaggggGccaggcaaccaacaaaacca	12	12	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:123738436G>T	ENST00000253233.1	+	2	859	c.215G>T	c.(214-216)gGc>gTc	p.G72V	C12orf65_ENST00000366329.2_Missense_Mutation_p.G72V|C12orf65_ENST00000429587.2_Missense_Mutation_p.G72V|RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.3_ENST00000543217.2_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	72	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GGTCCAGGGGGCCAGGCAACC	0.557																																					p.G72V		.											.	C12orf65-90	0			c.G215T						.						65	70	68					12																	123738436		2203	4300	6503	SO:0001583	missense	91574	exon2			CAGGGGGCCAGGC	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.215G>T	12.37:g.123738436G>T	ENSP00000253233:p.Gly72Val	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	139	53	NM_001194995	0	0	15	29	14	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930061	0.92389	.	.	ENSG00000130921	ENST00000253233;ENST00000546132;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.25	5.25	0.73442	Peptide chain release factor class I/class II (1);	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94523	0.7729	10	0.87932	D	0	-15.9795	18.8572	0.92257	0.0:0.0:1.0:0.0	.	72	Q9H3J6	CL065_HUMAN	V	72	ENSP00000253233:G72V;ENSP00000441796:G72V;ENSP00000390647:G72V;ENSP00000444843:G72V;ENSP00000391513:G72V	ENSP00000253233:G72V	G	+	2	0	C12orf65	122304389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.712000	0.98738	2.456000	0.83038	0.561000	0.74099	GGC	.		0.557	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		T	123738436	G	T	123738436	3	4	50	1	0	0	0	0	1	0	0	0	1713	1203	42	3	217	3	C12orf65	12	123738436	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	33821833	123738436	10113459	77	10470											
PCDH20	64881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	61986775	61986775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtctctagtaaatatTcattattgtatggtttgtaa	8	3	2	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr13:61986775T>C	ENST00000409186.1	-	5	3562	c.1457A>G	c.(1456-1458)gAa>gGa	p.E486G	PCDH20_ENST00000409204.4_Missense_Mutation_p.E486G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	486	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)|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)		TAGTAAATATTCATTATTGTA	0.403																																					p.E486G		.											.	PCDH20-581	0			c.A1457G						.						113	113	113					13																	61986775		2203	4300	6503	SO:0001583	missense	64881	exon2			AAATATTCATTAT	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.1457A>G	13.37:g.61986775T>C	ENSP00000386653:p.Glu486Gly	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	177	91	NM_022843	0	0	0	0	0	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806710	0.70682	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61040	0.14;0.14	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000004	T	0.65554	0.2702	M	0.65975	2.015	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.66131	-0.6000	10	0.39692	T	0.17	.	16.4116	0.83717	0.0:0.0:0.0:1.0	.	486	A8K1K9	.	G	486;486;232	ENSP00000387250:E486G;ENSP00000386653:E486G	ENSP00000351500:E232G	E	-	2	0	PCDH20	60884776	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.991000	0.88244	2.276000	0.75962	0.528000	0.53228	GAA	.		0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		C	61986775	T	C	61986775	3	2	50	1	0	0	0	0	1	0	0	0	11554	1783	62	4	1402	4	PCDH20	13	61986775	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10		61986775	53183103	78	10471											
KLF5	688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	73636282	73636282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcccctcctccggcccCgacccaggccctccctgagt	9	22	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr13:73636282C>T	ENST00000377687.4	+	2	1081	c.545C>T	c.(544-546)cCg>cTg	p.P182L	KLF5_ENST00000539231.1_Missense_Mutation_p.P91L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	182					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)	p.P182L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTCCGGCCCCGACCCAGGCC	0.527																																					p.P182L		.											.	KLF5-155	1	Substitution - Missense(1)	lung(1)	c.C545T						.						65	68	67					13																	73636282		2203	4300	6503	SO:0001583	missense	688	exon2			CGGCCCCGACCCA	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.545C>T	13.37:g.73636282C>T	ENSP00000366915:p.Pro182Leu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	77	38	NM_001730	0	0	0	0	0	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493978	0.64186	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08102	3.32;3.13	5.94	4.15	0.48705	.	0.218902	0.47852	D	0.000219	T	0.08403	0.0209	L	0.49350	1.555	0.80722	D	1	P	0.44006	0.824	B	0.30495	0.116	T	0.08722	-1.0708	10	0.52906	T	0.07	.	15.1844	0.72989	0.2597:0.7403:0.0:0.0	.	182	Q13887	KLF5_HUMAN	L	91;182;162	ENSP00000440407:P91L;ENSP00000366915:P182L	ENSP00000366915:P182L	P	+	2	0	KLF5	72534283	0.994000	0.37717	0.985000	0.45067	0.980000	0.70556	3.227000	0.51262	0.785000	0.33685	0.561000	0.74099	CCG	.		0.527	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			T	73636282	C	T	73636282	3	4	50	1	0	0	0	0	1	0	0	0	8376	652	23	1	551	1	KLF5	13	73636282	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	11649507	73636282	41533596	79	10472											
LRRC16B	90668	broad.mit.edu	37	chr14	24527404	24527404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctcaacagtcacctcagtGacctgcacctggatctcagc	7	17	4	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:24527404G>C	ENST00000342740.5	+	17	1517	c.1363G>C	c.(1363-1365)Gac>Cac	p.D455H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	455						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)		TCACCTCAGTGACCTGCACCT	0.622											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D455H		.											.	LRRC16B-139	0			c.G1363C						.						51	43	46					14																	24527404		2203	4300	6503	SO:0001583	missense	90668	exon17			CTCAGTGACCTGC	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.1363G>C	14.37:g.24527404G>C	ENSP00000340467:p.Asp455His	Somatic	195	0	772	WXS	Illumina GAIIx	Phase_I	200	5	NM_138360	0	0	0	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279724	0.59758	.	.	ENSG00000186648	ENST00000342740	T	0.16324	2.35	4.91	4.91	0.64330	.	0.054884	0.64402	D	0.000002	T	0.36303	0.0962	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04796	-1.0926	10	0.54805	T	0.06	-18.2364	13.6748	0.62447	0.0:0.0:1.0:0.0	.	455	Q8ND23	LR16B_HUMAN	H	455	ENSP00000340467:D455H	ENSP00000340467:D455H	D	+	1	0	LRRC16B	23597244	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.964000	0.70379	2.271000	0.75665	0.456000	0.33151	GAC	.		0.622	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		C	24527404	G	C	24527404	3	2	50	1	0	0	0	0	1	0	0	0	9007	1290	45	3	1429	3	LRRC16B	14	24527404	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		24527404	82822136	80	10473											
INSM2	84684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	36004341	36004341	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgtagagtaccgctgccctGagtgcgacaaggtgttcagc	14	11	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:36004341G>C	ENST00000307169.3	+	1	1094	c.883G>C	c.(883-885)Gag>Cag	p.E295Q		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	295					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)			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)		CCGCTGCCCTGAGTGCGACAA	0.662																																					p.E295Q		.											.	INSM2-226	0			c.G883C						.						35	36	36					14																	36004341		2203	4298	6501	SO:0001583	missense	84684	exon1			TGCCCTGAGTGCG	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.883G>C	14.37:g.36004341G>C	ENSP00000306523:p.Glu295Gln	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	92	25	NM_032594	0	0	0	0	0	A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733933	0.89482	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	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	0.32593	N	0.005886	T	0.59032	0.2164	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60301	-0.7290	10	0.48119	T	0.1	-27.5796	16.9569	0.86262	0.0:0.0:1.0:0.0	.	295	Q96T92	INSM2_HUMAN	Q	295	ENSP00000306523:E295Q	ENSP00000306523:E295Q	E	+	1	0	INSM2	35074092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.269000	0.75478	0.563000	0.77884	GAG	.		0.662	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			C	36004341	G	C	36004341	3	2	50	1	0	0	0	0	1	0	0	0	7799	1291	45	3	885	3	INSM2	14	36004341	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	11476937	36004341	71345199	81	10474											
SLC10A1	6554	broad.mit.edu	37	chr14	70246042	70246042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcagagagaactgtgacGgccacactgcacaagagaat	12	9	0	4			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:70246042G>A	ENST00000216540.4	-	3	736	c.603C>T	c.(601-603)gcC>gcT	p.A201A		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	201					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	GAACTGTGACGGCCACACTGC	0.488																																					p.A201A		.											.	SLC10A1-91	0			c.C603T						.						139	99	113					14																	70246042		2203	4300	6503	SO:0001819	synonymous_variant	6554	exon3			TGTGACGGCCACA	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.603C>T	14.37:g.70246042G>A		Somatic	92	1		WXS	Illumina GAIIx	Phase_I	89	5	NM_003049	0	0	0	0	0	B9EGB6|Q2TU29	Silent	SNP	ENST00000216540.4	37	CCDS9797.1																																																																																			.		0.488	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			A	70246042	G	A	70246042	2	1	50	1	0	0	0	0	0	0	0	1	14418	1103	39	1		1	SLC10A1	14	70246042	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	34241701	70246042	37103498	82	10475											
C14orf43	91748	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	74191989	74191989	+	Frame_Shift_Del	DEL	G	G	-													gctcaccagcttctgcaccaGgaagaaatccttcttgtaga							TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:74191989delG	ENST00000286523.5	-	9	3342	c.2560delC	c.(2560-2562)ctgfs	p.L854fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.L854fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	854	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)										TTCTGCACCAGGAAGAAATCC	0.562																																					p.L854fs		.											.	.	0			c.2560delC						.						152	143	146					14																	74191989		2203	4300	6503	SO:0001589	frameshift_variant	91748	exon9			GCACCAGGAAGAA	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.2560delC	14.37:g.74191989delG	ENSP00000286523:p.Leu854fs	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	70	57	NM_194278	0	0	0	0	0	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	CCDS9819.1																																																																																			.		0.562	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		-	74191989	G	-	74191989	7	5	50	1	0	1	0	1	0	0	0	0	1779	991	35	0	593	0	C14orf43	14	74191989	Frame_Shift_Del	DEL	G	TCGA-OR-A5LC-01A-11D-A29I-10	3945947	74191989	33157551	83	10476											
C14orf174	161394	bcgsc.ca	37	chr14	77845121	77845121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttgtcactaagtgacAaatttagaaaagaatattac	7	4	1	3	rs2193595	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:77845121A>G	ENST00000216471.4	+	1	1646	c.1360A>G	c.(1360-1362)Aaa>Gaa	p.K454E	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	454			K -> E (in dbSNP:rs2193595).					p.K454E(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTAAGTGACAAATTTAGAAA	0.373													G|||	2569	0.512979	0.888	0.4841	5008	,	,		21569	0.0883		0.497	False		,,,				2504	0.4806				p.K454E		.											.	SAMD15-90	1	Substitution - Missense(1)	stomach(1)	c.A1360G						.	G	GLU/LYS	3626,780	313.0+/-292.9	1499,628,76	74	73	73		1360	-2.4	0	14	dbSNP_96	73	4023,4577	597.9+/-393.8	955,2113,1232	yes	missense	SAMD15	NM_001010860.1	56	2454,2741,1308	GG,GA,AA		46.7791,17.7031,41.1887	benign	454/675	77845121	7649,5357	2203	4300	6503	SO:0001583	missense	161394	exon1			AGTGACAAATTTA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1360A>G	14.37:g.77845121A>G	ENSP00000216471:p.Lys454Glu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	48	4	NM_001010860	0	0	0	0	0	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	1051	0.48122710622710624	436	0.8861788617886179	197	0.5441988950276243	43	0.07517482517482517	375	0.4947229551451187	G	0.019	-1.454591	0.01071	0.822969	0.467791	ENSG00000100583	ENST00000216471	T	0.34275	1.37	2.27	-2.42	0.06542	.	.	.	.	.	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35500	-0.9786	8	0.02654	T	1	.	3.7904	0.08718	0.4507:0.1975:0.3518:0.0	rs2193595;rs3742735;rs52827749;rs57272414;rs2193595	454	Q9P1V8	SAM15_HUMAN	E	454	ENSP00000216471:K454E	ENSP00000216471:K454E	K	+	1	0	SAMD15	76914874	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.968000	0.03817	-0.675000	0.05246	-0.227000	0.12334	AAA	A|0.451;G|0.549		0.373	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		G	77845121	A	G	77845121	3	3	50	1	0	0	0	0	1	0	0	0	1764	131	5	4	1362	4	C14orf174	14	77845121	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	3653132	77845121	29504419	84	10477											
CHGA	1113	bcgsc.ca	37	chr14	93401178	93401178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagcctgtcggccattgaAgcagagctggagaaagtggc	16	8	0	4	rs941581|rs9658671	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:93401178A>G	ENST00000216492.5	+	8	1603	c.1323A>G	c.(1321-1323)gaA>gaG	p.E441E	CHGA_ENST00000334654.4_Silent_p.E290E	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	441					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGCCATTGAAGCAGAGCTGG	0.652													G|||	3983	0.795327	0.7519	0.7363	5008	,	,		18598	0.9554		0.7177	False		,,,				2504	0.8108				p.E441E	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	.											.	CHGA-516	0			c.A1323G						.	G		3454,948		1359,736,106	42	31	34		1323	4.4	1	14	dbSNP_86	34	6047,2551		2124,1799,376	no	coding-synonymous	CHGA	NM_001275.3		3483,2535,482	GG,GA,AA		29.6697,21.5357,26.9154		441/458	93401178	9501,3499	2201	4299	6500	SO:0001819	synonymous_variant	1113	exon8			CATTGAAGCAGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1323A>G	14.37:g.93401178A>G		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	232	9	NM_001275	0	0	0	0	0	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	CCDS9906.1																																																																																			A|0.243;G|0.757		0.652	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		G	93401178	A	G	93401178	2	3	50	1	0	0	0	0	0	0	0	1	3345	69	3	4		4	CHGA	14	93401178	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	15556057	93401178	13948362	85	10478											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001823	0	0	29	67	38	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	50	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	10587002	103988180	3361360	86	10479											
APBA2	321	broad.mit.edu;bcgsc.ca	37	chr15	29393975	29393975	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgatctgccatgtgttCgagtcggaggatgtaagtaa	13	5	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:29393975C>T	ENST00000558402.1	+	11	2111	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	APBA2_ENST00000411764.1_Silent_p.F492F|APBA2_ENST00000558330.1_Silent_p.F492F|APBA2_ENST00000561069.1_Silent_p.F504F|APBA2_ENST00000558259.1_Silent_p.F504F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	504	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCATGTGTTCGAGTCGGAGG	0.617																																					p.F504F		.											.	APBA2-90	0			c.C1512T						.						68	50	56					15																	29393975		2203	4299	6502	SO:0001819	synonymous_variant	321	exon9			TGTGTTCGAGTCG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1512C>T	15.37:g.29393975C>T		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	140	6	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			.		0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29393975	C	T	29393975	2	4	50	1	0	0	0	0	0	0	0	1	757	883	31	1		1	APBA2	15	29393975	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10		29393975	73137417	87	10480											
MFAP1	4236	broad.mit.edu	37	chr15	44116740	44116740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtagactgaatgggcggttGcttcatgagagcgcttggga	16	7	1	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:44116740G>T	ENST00000267812.3	-	1	260	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K	WDR76_ENST00000381246.2_5'Flank|WDR76_ENST00000263795.6_5'Flank	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	10					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		ATGGGCGGTTGCTTCATGAGA	0.537																																					p.Q10K		.											.	MFAP1-226	0			c.C28A						.						128	115	119					15																	44116740		2198	4298	6496	SO:0001583	missense	4236	exon1			GCGGTTGCTTCAT		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.28C>A	15.37:g.44116740G>T	ENSP00000267812:p.Gln10Lys	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	204	6	NM_005926	0	0	5	5	0	Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998091	0.35226	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.53	5.53	0.82687	.	0.059800	0.64402	D	0.000002	T	0.41119	0.1145	N	0.25144	0.715	0.80722	D	1	B	0.29531	0.247	B	0.23574	0.047	T	0.40175	-0.9577	9	0.02654	T	1	-4.2045	19.0999	0.93269	0.0:0.0:1.0:0.0	.	10	P55081	MFAP1_HUMAN	K	10	.	ENSP00000267812:Q10K	Q	-	1	0	MFAP1	41904032	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.026000	0.93700	2.596000	0.87737	0.655000	0.94253	CAA	.		0.537	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		T	44116740	G	T	44116740	3	4	50	1	0	0	0	0	1	0	0	0	9551	1328	46	3	1327	3	MFAP1	15	44116740	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	14722765	44116740	58414652	88	10481											
SPG11	80208	broad.mit.edu	37	chr15	44858189	44858189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccgctgacagtgctgggCctgtcgcacacaggagtcct	14	13	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:44858189C>A	ENST00000261866.7	-	38	6878	c.6862G>T	c.(6862-6864)Gcc>Tcc	p.A2288S	SPG11_ENST00000535302.2_Missense_Mutation_p.A2175S|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2288					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)		CAGTGCTGGGCCTGTCGCACA	0.532																																					p.A2288S		.											.	SPG11-95	0			c.G6862T						.						48	42	44					15																	44858189		2198	4298	6496	SO:0001583	missense	80208	exon38			GCTGGGCCTGTCG		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.6862G>T	15.37:g.44858189C>A	ENSP00000261866:p.Ala2288Ser	Somatic	80	1		WXS	Illumina GAIIx	Phase_I	55	4	NM_025137	0	0	27	27	0	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100708	0.76983	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	D;T	0.82893	-1.66;-1.28	5.8	5.8	0.92144	.	0.109103	0.64402	D	0.000008	D	0.87442	0.6178	L	0.53729	1.69	0.80722	D	1	P;D;D	0.71674	0.946;0.998;0.998	P;D;D	0.65443	0.586;0.935;0.935	D	0.85359	0.1106	10	0.33940	T	0.23	.	13.5081	0.61495	0.2727:0.7273:0.0:0.0	.	2175;2288;2288	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	S	2288;2175	ENSP00000261866:A2288S;ENSP00000445278:A2175S	ENSP00000261866:A2288S	A	-	1	0	SPG11	42645481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.252000	0.43196	2.741000	0.93983	0.585000	0.79938	GCC	.		0.532	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44858189	C	A	44858189	3	1	50	1	0	0	0	0	1	0	0	0	15088	739	26	3	481	3	SPG11	15	44858189	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	741449	44858189	57673203	89	10482											
PDE8A	5151	hgsc.bcm.edu;bcgsc.ca	37	chr15	85656649	85656650	+	Frame_Shift_Del	DEL	TC	TC	-													cttccatggcccggatacatTccatgacaattgaggcgccc							TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:85656649_85656650delTC	ENST00000310298.4	+	14	1408_1409	c.1156_1157delTC	c.(1156-1158)tccfs	p.S386fs	PDE8A_ENST00000339708.5_Frame_Shift_Del_p.S340fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.S314fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.S386fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	386					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CCGGATACATTCCATGACAATT	0.505																																					p.386_386del		.											.	PDE8A-94	0			c.1156_1157del						.																																			SO:0001589	frameshift_variant	5151	exon13			ATACATTCCATGA	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1156_1157delTC	15.37:g.85656649_85656650delTC	ENSP00000311453:p.Ser386fs	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	156	36	NM_002605	0	0	0	0	0	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	CCDS10336.1																																																																																			.		0.505	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		-	85656650	TC	-	85656649	7	5	50	1	0	1	0	1	0	0	0	0	11692	1783	62	0	1206	0	PDE8A	15	85656649	Frame_Shift_Del	DEL	TC	TCGA-OR-A5LC-01A-11D-A29I-10	40798460	85656649	16874743	90	10483											
PTX4	390667	hgsc.bcm.edu	37	chr16	1537601	1537601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggcagccgcccctccAgagcagccagcctggcgccc	12	21	0	1	rs2667674	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:1537601A>G	ENST00000447419.2	-	2	537	c.512T>C	c.(511-513)cTg>cCg	p.L171P	PTX4_ENST00000293922.1_Missense_Mutation_p.L166P|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	171						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCGCCCCTCCAGAGCAGCCAG	0.731													A|||	341	0.0680911	0.0719	0.0634	5008	,	,		14003	0.0526		0.0875	False		,,,				2504	0.0624				p.L166P		.											.	PTX4-90	0			c.T497C						.	A	PRO/LEU	253,4059		9,235,1912	11	14	13		497	4	0	16	dbSNP_100	13	771,7671		29,713,3479	no	missense	PTX4	NM_001013658.1	98	38,948,5391	GG,GA,AA		9.1329,5.8673,8.0289	probably-damaging	166/474	1537601	1024,11730	2156	4221	6377	SO:0001583	missense	390667	exon2			CCCTCCAGAGCAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.512T>C	16.37:g.1537601A>G	ENSP00000445277:p.Leu171Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	29	11	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		158	0.07234432234432235	30	0.06097560975609756	26	0.0718232044198895	28	0.04895104895104895	74	0.09762532981530343	A	11.77	1.737133	0.30774	0.058673	0.091329	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09630	3.08;2.96	5.1	3.99	0.46301	.	0.583371	0.15824	N	0.242871	T	0.00637	0.0021	L	0.52573	1.65	0.37568	P	0.08066399999999996	D	0.89917	1.0	D	0.81914	0.995	T	0.03898	-1.0994	9	0.72032	D	0.01	.	9.5613	0.39371	0.9143:0.0:0.0857:0.0	rs2667674	166	Q96A99-2	.	P	171;166	ENSP00000445277:L171P;ENSP00000293922:L166P	ENSP00000293922:L166P	L	-	2	0	PTX4	1477602	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.062000	0.30555	0.861000	0.35504	0.533000	0.62120	CTG	A|0.928;G|0.072		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		G	1537601	A	G	1537601	3	3	50	1	0	0	0	0	1	0	0	0	12868	188	7	4	931	4	PTX4	16	1537601	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10		1537601	88817152	91	10484											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	50	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	285843	1823444	88531309	92	10485											
PKD1	5310	hgsc.bcm.edu	37	chr16	2156447	2156447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgtgcacagcgcccaGtgggaagaggcggcaagagc	19	10	0	2	rs2003782	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:2156447G>A	ENST00000262304.4	-	18	7649	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	PKD1_ENST00000423118.1_Silent_p.L2481L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2481	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCGCCCAGTGGGAAGAGG	0.716													a|||	1082	0.216054	0.5439	0.1715	5008	,	,		15215	0		0.159	False		,,,				2504	0.0859				p.L2481L		.											.	PKD1-91	0			c.C7441T						.		,	1033,1813		192,649,582	3	4	4		7441,7441	0.4	0	16	dbSNP_92	4	861,5451		64,733,2359	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	256,1382,2941	AA,AG,GG		13.6407,36.2966,20.6814	,	2481/4303,2481/4304	2156447	1894,7264	1423	3156	4579	SO:0001819	synonymous_variant	5310	exon18			CGCCCAGTGGGAA	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.7441C>T	16.37:g.2156447G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	11	NM_000296	0	0	18	21	3	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.793;A|0.207		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			A	2156447	G	A	2156447	2	1	50	1	0	0	0	0	0	0	0	1	12002	1020	36	3		3	PKD1	16	2156447	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	333003	2156447	88198306	93	10486											
FLYWCH1	84256	hgsc.bcm.edu	37	chr16	2980747	2980747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctggagggggtgggccCgtggcagtgccctgaggagc	20	12	0	1	rs201356969	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:2980747C>T	ENST00000253928.9	+	4	1067	c.662C>T	c.(661-663)cCg>cTg	p.P221L	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P220L|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.P221L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	221						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGGGTGGGCCCGTGGCAGTGC	0.721													.|||	11	0.00219649	0	0.0014	5008	,	,		10944	0		0.0099	False		,,,				2504	0				p.P220L		.											.	FLYWCH1-22	0			c.C659T						.	C	LEU/PRO,LEU/PRO	3,3477		0,3,1737	4	5	4		659,659	2	0	16		4	16,7716		0,16,3850	yes	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	98,98	0,19,5587	TT,TC,CC		0.2069,0.0862,0.1695	probably-damaging,probably-damaging	220/704,220/716	2980747	19,11193	1740	3866	5606	SO:0001583	missense	84256	exon4			TGGGCCCGTGGCA	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.662C>T	16.37:g.2980747C>T	ENSP00000253928:p.Pro221Leu	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	42	20	NM_020912	0	0	3	7	4	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	C	6.182	0.401769	0.11696	8.62E-4	0.002069	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.35	2.02	0.26589	.	.	.	.	.	T	0.36496	0.0969	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74023	0.982;0.744	T	0.21042	-1.0257	8	0.11794	T	0.64	.	4.8772	0.13662	0.0:0.758:0.0:0.242	.	221;220	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	L	221;221;220	.	ENSP00000253928:P221L	P	+	2	0	FLYWCH1	2920748	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	0.165000	0.16564	0.669000	0.31146	0.591000	0.81541	CCG	.		0.721	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		T	2980747	C	T	2980747	3	4	50	1	0	0	0	0	1	0	0	0	5969	652	23	1	665	1	FLYWCH1	16	2980747	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	824300	2980747	87374006	94	10487											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304573	3304573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtccaggccctccgaGgccttctctctgcgtttgct	11	16	2	0	rs224223	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7	7	7		495,	2.9	0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	13	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304573	G	T	3304573	2	4	50	1	0	0	0	0	0	0	0	1	9497	987	35	3		3	MEFV	16	3304573	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	323826	3304573	87050180	95	10488											
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28844676	28844676	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgagggccctgttgctgaGtgagtggagcggggtggggc	22	6	0	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:28844676G>T	ENST00000336783.4	+	14	2122		c.e14+1		ATXN2L_ENST00000570200.1_Splice_Site|ATXN2L_ENST00000382686.4_Splice_Site|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Splice_Site|ATXN2L_ENST00000565845.1_Splice_Site|ATXN2L_ENST00000564304.1_Splice_Site|ATXN2L_ENST00000395547.2_Splice_Site|ATXN2L_ENST00000340394.8_Splice_Site	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGTTGCTGAGTGAGTGGAGC	0.572																																					.		.											.	ATXN2L-92	0			c.1955+1G>T						.						46	45	46					16																	28844676		2197	4300	6497	SO:0001630	splice_region_variant	11273	exon14			TGCTGAGTGAGTG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1955+1G>T	16.37:g.28844676G>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	89	43	NM_145714	0	0	0	9	9	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Splice_Site	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	g	16.74	3.206770	0.58343	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9149	0.92501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATXN2L	28752177	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.360000	0.66086	2.769000	0.95229	0.563000	0.77884	.	.		0.572	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	Intron	T	28844676	G	T	28844676	5	4	50	1	0	0	0	0	0	0	1	0	1213	1043	36	3	2010	3	ATXN2L	16	28844676	Splice_Site	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	25540103	28844676	61510077	96	10489											
SEZ6L2	26470	hgsc.bcm.edu	37	chr16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctagcgtggggtccCgatcagatcctgggacagtg	18	9	1	1	rs11649499	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7	10	9		,221,,221	2.8	1	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		G	29908433	C	G	29908433	3	3	50	1	0	0	0	0	1	0	0	0	14189	652	23	2	2614	2	SEZ6L2	16	29908433	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	1063757	29908433	60446320	97	10490											
CCDC102A	92922	hgsc.bcm.edu	37	chr16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcagtccgaccaccGgcgcatggtcttctccatct	11	15	3	0	rs12935069		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1	1	1	5008	,	,		3757	1		1	False		,,,				2504	1				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8	10	9					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		A	57562804	G	A	57562804	3	1	50	1	0	0	0	0	1	0	0	0	2743	1115	39	1	1398	1	CCDC102A	16	57562804	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	27654371	57562804	32791949	98	10491											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88520086	88520086	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccccggcagatcaagCgtgagtcaaactttgcccgc	10	15	2	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:88520086C>T	ENST00000319555.3	+	1	362	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	14					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAGATCAAGCGTGAGTCAAA	0.796																																					p.R14C	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.C40T						.						8	6	7					16																	88520086		1065	1914	2979	SO:0001630	splice_region_variant	161882	exon1			ATCAAGCGTGAGT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.40+1C>T	16.37:g.88520086C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_153813	0	0	0	0	0		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527576	0.27299	.	.	ENSG00000179588	ENST00000319555	T	0.11169	2.8	2.56	1.54	0.23209	.	3.210850	0.03429	U	0.207502	T	0.12050	0.0293	L	0.43923	1.385	0.45528	D	0.998483	B	0.21071	0.051	B	0.08055	0.003	T	0.30966	-0.9960	10	0.87932	D	0	.	7.7286	0.28773	0.0:0.8593:0.0:0.1407	.	14	Q8IX07	FOG1_HUMAN	C	14	ENSP00000326630:R14C	ENSP00000326630:R14C	R	+	1	0	ZFPM1	87047587	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.434000	0.34958	1.186000	0.42985	0.064000	0.15345	CGT	.		0.796	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		Missense_Mutation	T	88520086	C	T	88520086	5	4	50	1	0	0	0	0	0	0	1	0	17705	782	27	1	42	1	ZFPM1	16	88520086	Splice_Site	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	30957282	88520086	1834667	99	10492											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000599026.1_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000466740.2_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	50	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10		260182	80935028	100	10493											
HIC1	3090	hgsc.bcm.edu	37	chr17	1960974	1960974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagctgggccgggagcgCggctcccccagcgagcgctg	18	15	0	0	rs77393586	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:1960974C>T	ENST00000322941.3	+	2	1047	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Silent_p.R330R	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	349					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GCCGGGAGCGCGGCTCCCCCA	0.776													c|||	720	0.14377	0.2057	0.2824	5008	,	,		6818	0.0496		0.1272	False		,,,				2504	0.0757				p.R349R		.											.	HIC1-135	0			c.C1047T						.		,	305,2047		12,281,883	2	3	3		1047,990	-0.8	0.9	17	dbSNP_131	3	660,5334		34,592,2371	no	coding-synonymous,coding-synonymous	HIC1	NM_001098202.1,NM_006497.3	,	46,873,3254	TT,TC,CC		11.011,12.9677,11.5624	,	349/734,330/715	1960974	965,7381	1176	2997	4173	SO:0001819	synonymous_variant	3090	exon2			GGAGCGCGGCTCC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1047C>T	17.37:g.1960974C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_001098202	0	0	0	0	0	D3DTI4	Silent	SNP	ENST00000322941.3	37	CCDS42229.1																																																																																			C|0.839;T|0.161		0.776	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		T	1960974	C	T	1960974	2	4	50	1	0	0	0	0	0	0	0	1	7128	755	27	1		1	HIC1	17	1960974	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	1700792	1960974	79234236	101	10494											
GSG2	83903	broad.mit.edu	37	chr17	3629267	3629267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcactatccccagctgtGggttgcaagtgagcatcatt	11	11	1	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:3629267G>T	ENST00000325418.4	+	1	2057	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	680	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CCCCAGCTGTGGGTTGCAAGT	0.517																																					p.G680W		.											.	GSG2-297	0			c.G2038T						.						135	117	123					17																	3629267		2203	4300	6503	SO:0001583	missense	83903	exon1			AGCTGTGGGTTGC	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2038G>T	17.37:g.3629267G>T	ENSP00000325290:p.Gly680Trp	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	82	3	NM_031965	0	0	1	1	0	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521367	0.27211	.	.	ENSG00000177602	ENST00000325418	T	0.13196	2.61	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.47135	0.1429	M	0.92604	3.325	0.49915	D	0.999838	D	0.89917	1.0	D	0.97110	1.0	T	0.60120	-0.7325	10	0.87932	D	0	-22.1587	15.4291	0.75077	0.0:0.0:1.0:0.0	.	680	Q8TF76	HASP_HUMAN	W	680	ENSP00000325290:G680W	ENSP00000325290:G680W	G	+	1	0	GSG2	3576016	1.000000	0.71417	0.102000	0.21198	0.009000	0.06853	5.464000	0.66719	2.507000	0.84556	0.655000	0.94253	GGG	.		0.517	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		T	3629267	G	T	3629267	3	4	50	1	0	0	0	0	1	0	0	0	6849	1348	47	3	2040	3	GSG2	17	3629267	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	1668293	3629267	77565943	102	10495											
KRTAP4-7	100132476	bcgsc.ca	37	chr17	39240737	39240737	+	Missense_Mutation	SNP	C	C	G													cccagctgctgtatgtccagCtgctgcaagccccagtgctg					rs201389180		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:39240737C>G	ENST00000391417.4	+	1	279	c.279C>G	c.(277-279)agC>agG	p.S93R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	118	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gtatgtccagctgctgcaagc	0.687																																					p.S93R		.											.	.	0			c.C279G						.						10	16	14					17																	39240737		683	1573	2256	SO:0001583	missense	100132476	exon1			GTCCAGCTGCTGC	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.279C>G	17.37:g.39240737C>G	ENSP00000375236:p.Ser93Arg	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	122	37	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	14.06	2.421314	0.42918	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00642	6.02	3.69	3.69	0.42338	.	.	.	.	.	T	0.01627	0.0052	.	.	.	0.35803	D	0.823278	D	0.53462	0.96	P	0.54815	0.761	T	0.60722	-0.7207	8	0.62326	D	0.03	.	8.833	0.35096	0.2248:0.7752:0.0:0.0	.	93	Q9BYR0	KRA47_HUMAN	R	93;84	ENSP00000375236:S93R	ENSP00000375236:S93R	S	+	3	2	KRTAP4-9;KRTAP4-7	36494263	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.745000	0.55119	1.738000	0.51689	0.305000	0.20034	AGC	.		0.687	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240737	C	G	39240737	3	3	50	1	0	0	0	0	1	0	0	0	8583	796	28	3	281	3	KRTAP4-7	17	39240737	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	35611470	39240737	41954473	103	10496	103	2									
KRTAP4-7	100132476	bcgsc.ca	37	chr17	39240745	39240745	+	Missense_Mutation	SNP	A	A	G													ctgtatgtccagctgctgcaAgccccagtgctgccagtctg					rs199744933		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:39240745A>G	ENST00000391417.4	+	1	287	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	121	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgcaagccccagtgc	0.682																																					p.K96R		.											.	.	0			c.A287G						.						9	15	13					17																	39240745		684	1562	2246	SO:0001583	missense	100132476	exon1			GCTGCAAGCCCCA	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.287A>G	17.37:g.39240745A>G	ENSP00000375236:p.Lys96Arg	Somatic	28	1		WXS	Illumina GAIIx	Phase_I	119	41	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.517953	0.00151	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00576	6.45	3.54	-2.1	0.07210	.	2.018020	0.03642	N	0.239726	T	0.00300	0.0009	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	9	0.02654	T	1	.	4.8381	0.13474	0.449:0.158:0.393:0.0	.	96	Q9BYR0	KRA47_HUMAN	R	96;87	ENSP00000375236:K96R	ENSP00000375236:K96R	K	+	2	0	KRTAP4-9;KRTAP4-7	36494271	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.058000	0.14301	-0.272000	0.09259	-1.349000	0.01238	AAG	.		0.682	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			G	39240745	A	G	39240745	3	3	50	1	0	0	0	0	1	0	0	0	8583	72	3	4	289	4	KRTAP4-7	17	39240745	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	8	39240745	41954465	104	10497	103	2									
NPTX1	4884	hgsc.bcm.edu	37	chr17	78449948	78449948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcccgcccgggcctcgCcggctccggggtccagcgtg	16	20	0	0	rs144443274	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:78449948C>T	ENST00000306773.4	-	1	456	c.299G>A	c.(298-300)gGc>gAc	p.G100D	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	100					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ccgggcctcgccggcTCCGGG	0.721													C|||	393	0.0784744	0.0091	0.098	5008	,	,		6949	0.0238		0.173	False		,,,				2504	0.1176				p.G100D		.											.	NPTX1-90	0			c.G299A						.	C	ASP/GLY	146,4108		4,138,1985	11	15	14		299	2.1	1	17	dbSNP_134	14	1445,6809		128,1189,2810	no	missense	NPTX1	NM_002522.3	94	132,1327,4795	TT,TC,CC		17.5067,3.4321,12.7199	benign	100/433	78449948	1591,10917	2127	4127	6254	SO:0001583	missense	4884	exon1			GCCTCGCCGGCTC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.299G>A	17.37:g.78449948C>T	ENSP00000307549:p.Gly100Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_002522	0	0	0	1	1	B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	196	0.08974358974358974	6	0.012195121951219513	42	0.11602209944751381	10	0.017482517482517484	138	0.1820580474934037	C	14.35	2.508706	0.44660	0.034321	0.175067	ENSG00000171246	ENST00000306773	T	0.10382	2.88	3.44	2.11	0.27256	.	0.738536	0.13049	N	0.417861	T	0.00012	0.0000	N	0.14661	0.345	0.34958	P	0.24807100000000004	P	0.43287	0.802	B	0.35413	0.202	T	0.37174	-0.9717	9	0.15066	T	0.55	-13.6643	4.112	0.10063	0.0:0.5355:0.2155:0.249	.	100	Q15818	NPTX1_HUMAN	D	100	ENSP00000307549:G100D	ENSP00000307549:G100D	G	-	2	0	NPTX1	76064543	0.996000	0.38824	0.994000	0.49952	0.971000	0.66376	1.864000	0.39469	1.482000	0.48325	0.484000	0.47621	GGC	C|0.910;T|0.090		0.721	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78449948	C	T	78449948	3	4	50	1	0	0	0	0	1	0	0	0	10641	739	26	3	1019	3	NPTX1	17	78449948	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	39209203	78449948	2745262	105	10498											
C19orf22	91300	bcgsc.ca	37	chr19	899444	899444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccggcacttactggcCgagatgaggtccatgtactg	13	12	0	2	rs2965284	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:899444C>T	ENST00000361574.5	-	7	772	c.699G>A	c.(697-699)tcG>tcA	p.S233S	R3HDM4_ENST00000587975.1_Silent_p.S212S	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	233	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										ACTTACTGGCCGAGATGAGGT	0.657													C|||	408	0.0814696	0.0159	0.1081	5008	,	,		12934	0.0109		0.1809	False		,,,				2504	0.1217				p.S233S		.											.	.	0			c.G699A						.	C		177,4229	114.6+/-152.6	5,167,2031	46	47	47		699	-7.7	1	19	dbSNP_101	47	1656,6944	300.6+/-305.0	170,1316,2814	no	coding-synonymous	C19orf22	NM_138774.3		175,1483,4845	TT,TC,CC		19.2558,4.0172,14.0935		233/269	899444	1833,11173	2203	4300	6503	SO:0001819	synonymous_variant	91300	exon7			ACTGGCCGAGATG	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.699G>A	19.37:g.899444C>T		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	145	6	NM_138774	0	0	3	3	0		Silent	SNP	ENST00000361574.5	37	CCDS12048.1																																																																																			C|0.877;T|0.123		0.657	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		T	899444	C	T	899444	2	4	50	1	0	0	0	0	0	0	0	1	1921	639	23	1		1	C19orf22	19	899444	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10		899444	58229539	106	10499											
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8595175	8595175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggccgctcctccagccCcaggtagtccccgacgaagt	11	18	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:8595175C>A	ENST00000338257.8	-	21	2500	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	745	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCTCCAGCCCCAGGTAGTCC	0.632																																					p.G745W		.											.	MYO1F-93	0			c.G2233T						.						145	155	152					19																	8595175		2082	4184	6266	SO:0001583	missense	4542	exon21			CCAGCCCCAGGTA	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2233G>T	19.37:g.8595175C>A	ENSP00000344871:p.Gly745Trp	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	167	38	NM_012335	0	0	0	0	0	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065373	0.93898	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.38722	1.12	5.58	5.58	0.84498	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82602	-0.0376	10	0.87932	D	0	.	18.61	0.91281	0.0:1.0:0.0:0.0	.	745	O00160	MYO1F_HUMAN	W	790;745	ENSP00000344871:G745W	ENSP00000304899:G790W	G	-	1	0	MYO1F	8501175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.772000	0.85439	2.647000	0.89833	0.555000	0.69702	GGG	.		0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8595175	C	A	8595175	3	1	50	1	0	0	0	0	1	0	0	0	10111	623	22	3	1095	3	MYO1F	19	8595175	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	7695731	8595175	50533808	107	10500											
RLN3	117579	bcgsc.ca	37	chr19	14141666	14141666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctggcaaggaacccctgGggttcttcggggcagccgag	16	12	1	0	rs78161395	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:14141666G>T	ENST00000431365.2	+	2	392	c.335G>T	c.(334-336)gGg>gTg	p.G112V	IL27RA_ENST00000263379.2_5'Flank|RLN3_ENST00000585987.1_3'UTR|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	112						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						GGAACCCCTGGGGTTCTTCGG	0.612													G|||	951	0.189896	0.0469	0.17	5008	,	,		17645	0.2946		0.1511	False		,,,				2504	0.3292				p.G112V		.											.	RLN3-90	0			c.G335T						.	G	VAL/GLY	355,4051	171.2+/-201.5	9,337,1857	44	49	47		335	1.2	0	19	dbSNP_131	47	1282,7318	241.0+/-271.5	88,1106,3106	yes	missense	RLN3	NM_080864.2	109	97,1443,4963	TT,TG,GG		14.907,8.0572,12.5865	possibly-damaging	112/143	14141666	1637,11369	2203	4300	6503	SO:0001583	missense	117579	exon2			CCCCTGGGGTTCT	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.335G>T	19.37:g.14141666G>T	ENSP00000397415:p.Gly112Val	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	104	5	NM_080864	0	0	0	0	0	Q6UXW5	Missense_Mutation	SNP	ENST00000431365.2	37	CCDS12302.1	368	0.1684981684981685	23	0.046747967479674794	48	0.13259668508287292	174	0.3041958041958042	123	0.16226912928759896	G	11.28	1.591005	0.28357	0.080572	0.14907	ENSG00000171136	ENST00000431365	T	0.39056	1.1	4.62	1.21	0.21127	Insulin-like (3);	0.908383	0.09740	N	0.761990	T	0.00012	0.0000	L	0.46947	1.48	0.54753	P	1.3000000000040757E-5	B	0.13145	0.007	B	0.16289	0.015	T	0.25467	-1.0131	9	0.45353	T	0.12	-7.3272	6.2509	0.20845	0.1664:0.0:0.6851:0.1485	.	112	Q8WXF3	REL3_HUMAN	V	112	ENSP00000397415:G112V	ENSP00000397415:G112V	G	+	2	0	RLN3	14002666	0.009000	0.17119	0.004000	0.12327	0.003000	0.03518	0.842000	0.27627	0.059000	0.16252	-1.531000	0.00922	GGG	G|0.865;T|0.135		0.612	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			T	14141666	G	T	14141666	3	4	50	1	0	0	0	0	1	0	0	0	13438	1232	43	3	341	3	RLN3	19	14141666	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	5546491	14141666	44987317	108	10501											
OR7A10	390892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14951843	14951843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaggggttcagcatggGggtgaccacagtgtacatca	15	7	2	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:14951843G>T	ENST00000248058.1	-	1	846	c.847C>A	c.(847-849)Ccc>Acc	p.P283T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TTCAGCATGGGGGTGACCACA	0.443																																					p.P283T		.											.	OR7A10-68	0			c.C847A						.						90	87	88					19																	14951843		2203	4300	6503	SO:0001583	missense	390892	exon1			GCATGGGGGTGAC		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.847C>A	19.37:g.14951843G>T	ENSP00000248058:p.Pro283Thr	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	140	66	NM_001005190	0	0	0	0	0	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	13.71	2.318716	0.41096	.	.	ENSG00000127515	ENST00000248058	T	0.00344	8.02	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001549	T	0.01421	0.0046	H	0.98646	4.29	0.28120	N	0.930641	D	0.76494	0.999	D	0.83275	0.996	T	0.06826	-1.0805	10	0.72032	D	0.01	.	11.4206	0.49978	0.0:0.0:1.0:0.0	.	283	O76100	OR7AA_HUMAN	T	283	ENSP00000248058:P283T	ENSP00000248058:P283T	P	-	1	0	OR7A10	14812843	1.000000	0.71417	0.994000	0.49952	0.508000	0.34012	4.701000	0.61810	1.590000	0.49995	0.134000	0.15878	CCC	.		0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14951843	G	T	14951843	3	4	50	1	0	0	0	0	1	0	0	0	11253	1232	43	3	86	3	OR7A10	19	14951843	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	810177	14951843	44177140	109	10502											
SLC27A1	376497	hgsc.bcm.edu	37	chr19	17597661	17597661	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctggccaaggcgggcAtggaggccgcgctgctcaac	17	13	1	0	rs61743602	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:17597661A>T	ENST00000252595.7	+	2	554	c.457A>T	c.(457-459)Atg>Ttg	p.M153L	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_De_novo_Start_OutOfFrame|SLC27A1_ENST00000442725.1_Missense_Mutation_p.M153L	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	153					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAGGCGGGCATGGAGGCCGC	0.701													A|||	38	0.00758786	0	0.0043	5008	,	,		12339	0		0.006	False		,,,				2504	0.0297				p.M153L		.											.	SLC27A1-226	0			c.A457T						.	A	LEU/MET	14,4364		0,14,2175	15	17	16		457	1.4	1	19	dbSNP_129	16	88,8450		1,86,4182	yes	missense	SLC27A1	NM_198580.1	15	1,100,6357	TT,TA,AA		1.0307,0.3198,0.7897	benign	153/647	17597661	102,12814	2189	4269	6458	SO:0001583	missense	376497	exon2			GCGGGCATGGAGG	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.457A>T	19.37:g.17597661A>T	ENSP00000252595:p.Met153Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	10	NM_198580	0	0	0	1	1	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	A	15.08	2.726831	0.48833	0.003198	0.010307	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.38887	1.11;1.11	4.92	1.36	0.22044	AMP-dependent synthetase/ligase (1);	0.200219	0.43260	D	0.000599	T	0.12561	0.0305	N	0.03000	-0.44	0.27871	N	0.940037	B	0.02656	0.0	B	0.12156	0.007	T	0.13656	-1.0501	10	0.45353	T	0.12	.	8.4725	0.32993	0.2677:0.0:0.7323:0.0	rs61743602	153	Q6PCB7	S27A1_HUMAN	L	153;153;15	ENSP00000413424:M153L;ENSP00000252595:M153L	ENSP00000252595:M153L	M	+	1	0	SLC27A1	17458661	0.760000	0.28428	0.998000	0.56505	0.839000	0.47603	1.022000	0.30052	0.132000	0.18615	-0.337000	0.08149	ATG	A|0.993;T|0.007		0.701	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		T	17597661	A	T	17597661	3	4	50	1	0	0	0	0	1	0	0	0	14570	217	8	5	463	5	SLC27A1	19	17597661	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	2645818	17597661	41531322	110	10503											
ZNF254	9534	hgsc.bcm.edu;mdanderson.org	37	chr19	24310744	24310744	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcctcgcacctcaccacaGataagataactcattggaga	8	12	2	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:24310744G>A	ENST00000357002.4	+	4	2057	c.1942G>A	c.(1942-1944)Gat>Aat	p.D648N	ZNF254_ENST00000342944.6_Missense_Mutation_p.D563N	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	648					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)				CCTCACCACAGATAAGATAAC	0.373																																					p.D648N		.											.	ZNF254-90	0			c.G1942A						.						82	86	85					19																	24310744		2203	4297	6500	SO:0001583	missense	9534	exon4			ACCACAGATAAGA	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.1942G>A	19.37:g.24310744G>A	ENSP00000349494:p.Asp648Asn	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	16	7	NM_203282	0	0	2	3	1	A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785544	0.16189	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.07444	3.19;3.36	0.525	-1.05	0.10036	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42050	-0.9474	9	0.87932	D	0	.	5.747	0.18126	0.0:0.637:0.3629:0.0	.	648	O75437	ZN254_HUMAN	N	563;648;340	ENSP00000445527:D563N;ENSP00000349494:D648N	ENSP00000445527:D563N	D	+	1	0	ZNF254	24102584	0.703000	0.27826	0.000000	0.03702	0.006000	0.05464	3.324000	0.52022	-0.454000	0.07066	0.305000	0.20034	GAT	.		0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		A	24310744	G	A	24310744	3	1	50	1	0	0	0	0	1	0	0	0	17846	942	33	3	1956	3	ZNF254	19	24310744	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	6713083	24310744	34818239	111	10504											
LRP3	4037	hgsc.bcm.edu	37	chr19	33698018	33698018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttcaccggccgcgggCgccccgaggccagatcccac	12	19	2	1	rs11539586	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:33698018C>T	ENST00000253193.7	+	7	2052	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	617					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGCCGCGGGCGCCCCGAGGC	0.751													c|||	306	0.0611022	0.0598	0.0303	5008	,	,		10346	0.0446		0.0348	False		,,,				2504	0.1288				p.A617V		.											.	LRP3-92	0			c.C1850T						.	T	VAL/ALA	150,3256		0,150,1553	2	3	3		1850	1.1	0.1	19	dbSNP_120	3	222,6744		4,214,3265	no	missense	LRP3	NM_002333.3	64	4,364,4818	TT,TC,CC		3.1869,4.404,3.5866	benign	617/771	33698018	372,10000	1703	3483	5186	SO:0001583	missense	4037	exon7			CGCGGGCGCCCCG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1850C>T	19.37:g.33698018C>T	ENSP00000253193:p.Ala617Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	9	NM_002333	0	1	27	53	25	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	71	0.03250915750915751	23	0.046747967479674794	8	0.022099447513812154	15	0.026223776223776224	25	0.032981530343007916	c	1.581	-0.531531	0.04112	0.04404	0.031869	ENSG00000130881	ENST00000253193	D	0.87256	-2.23	3.32	1.14	0.20703	.	0.411391	0.20707	N	0.087178	T	0.38268	0.1034	L	0.38175	1.15	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.38562	0.001;0.276	T	0.55952	-0.8059	10	0.27785	T	0.31	-5.3016	8.5568	0.33487	0.0:0.7835:0.0:0.2165	rs11539586	617;535	O75074;B7ZAJ9	LRP3_HUMAN;.	V	617	ENSP00000253193:A617V	ENSP00000253193:A617V	A	+	2	0	LRP3	38389858	0.435000	0.25577	0.147000	0.22382	0.046000	0.14306	1.013000	0.29937	0.098000	0.17522	-3.141000	0.00059	GCG	T|0.000;G|0.967		0.751	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33698018	C	T	33698018	3	4	50	1	0	0	0	0	1	0	0	0	8993	768	27	1	1876	1	LRP3	19	33698018	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	9387274	33698018	25430965	112	10505											
SLC7A10	56301	broad.mit.edu	37	chr19	33699842	33699842	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggcagcagggagggTgggcaggggccattctcctc	19	10	1	0	rs541216108	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:33699842T>G	ENST00000253188.4	-	11	1673	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	509					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547													T|||	4	0.000798722	0.0023	0	5008	,	,		10342	0		0	False		,,,				2504	0.001				p.P509P		.											.	SLC7A10-91	0			c.A1527C						.						32	35	34					19																	33699842		2202	4300	6502	SO:0001819	synonymous_variant	56301	exon11			GGAGGGTGGGCAG	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1527A>C	19.37:g.33699842T>G		Somatic	40	7		WXS	Illumina GAIIx	Phase_I	58	13	NM_019849	0	0	0	0	0	B2RE84	Silent	SNP	ENST00000253188.4	37	CCDS12431.1																																																																																			.		0.547	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		G	33699842	T	G	33699842	2	3	50	1	0	0	0	0	0	0	0	1	14738	1683	59	5		5	SLC7A10	19	33699842	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	1824	33699842	25429141	113	10506											
FFAR1	2864	broad.mit.edu;mdanderson.org	37	chr19	35843174	35843174	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgcgtaggaccctaCaacgcctccaacgtggccag	10	16	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:35843174C>A	ENST00000246553.2	+	1	730	c.720C>A	c.(718-720)taC>taA	p.Y240*		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	240					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TAGGACCCTACAACGCCTCCA	0.692																																					p.Y240X		.											.	FFAR1-90	0			c.C720A						.						16	12	13					19																	35843174		2124	4155	6279	SO:0001587	stop_gained	2864	exon1			ACCCTACAACGCC	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.720C>A	19.37:g.35843174C>A	ENSP00000246553:p.Tyr240*	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	40	11	NM_005303	0	0	0	0	0	Q0VAS2|Q4VBL4	Nonsense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479450	0.63849	.	.	ENSG00000126266	ENST00000246553	.	.	.	4.0	2.96	0.34315	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6342	5.5872	0.17281	0.0:0.746:0.0:0.254	.	.	.	.	X	240	.	ENSP00000246553:Y240X	Y	+	3	2	FFAR1	40535014	1.000000	0.71417	0.981000	0.43875	0.612000	0.37316	2.523000	0.45580	0.845000	0.35118	0.561000	0.74099	TAC	.		0.692	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		A	35843174	C	A	35843174	4	1	50	1	0	0	0	0	0	1	0	0	5849	489	17	3	722	3	FFAR1	19	35843174	Nonsense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	2143332	35843174	23285809	114	10507											
CATSPERG	57828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38845375	38845375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattcgtgtcctggccagCgagtgcatcaagaagctgtg	14	9	1	1	rs114967522		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:38845375C>T	ENST00000409235.3	+	9	1138	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	CATSPERG_ENST00000410018.1_Silent_p.S341S|CATSPERG_ENST00000215069.4_Silent_p.S354S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	341					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCTGGCCAGCGAGTGCATCA	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		21200	0		0	False		,,,				2504	0				p.S341S		.											.	CATSPERG-92	0			c.C1023T						.						122	102	108					19																	38845375		692	1591	2283	SO:0001819	synonymous_variant	57828	exon9			GGCCAGCGAGTGC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1023C>T	19.37:g.38845375C>T		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	182	82	NM_021185	0	0	0	0	0	A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																			C|0.999;T|0.001		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		T	38845375	C	T	38845375	2	4	50	1	0	0	0	0	0	0	0	1	2699	767	27	1		1	CATSPERG	19	38845375	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	3002201	38845375	20283608	115	10508											
RINL	126432	hgsc.bcm.edu	37	chr19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgcaaggcgggggcgGggctctgcccttccggtccc	17	16	1	0	rs8110393	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4	4	4		1205,863	3.5	1	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39360720	G	A	39360720	3	1	50	1	0	0	0	0	1	0	0	0	13420	1232	43	3	511	3	RINL	19	39360720	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	515345	39360720	19768263	116	10509											
ZNF234	10780	bcgsc.ca	37	chr19	44660559	44660559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccccagacaaggtgatttGtcctgccaggttagggcagg	13	10	0	2	rs151243299	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:44660559G>T	ENST00000426739.2	+	6	648	c.390G>T	c.(388-390)ttG>ttT	p.L130F	ZNF234_ENST00000592437.1_Missense_Mutation_p.L130F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	130	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)				AAGGTGATTTGTCCTGCCAGG	0.398													G|||	15	0.00299521	0	0.0014	5008	,	,		22295	0		0.0139	False		,,,				2504	0				p.L130F		.											.	.	0			c.G390T						.	G	PHE/LEU,PHE/LEU	4,4016		0,4,2006	53	55	55		390,390	-2.5	0	19	dbSNP_134	55	52,8324		0,52,4136	yes	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	22,22	0,56,6142	TT,TG,GG		0.6208,0.0995,0.4518	benign,benign	130/701,130/701	44660559	56,12340	2010	4188	6198	SO:0001583	missense	10780	exon6			TGATTTGTCCTGC	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.390G>T	19.37:g.44660559G>T	ENSP00000400878:p.Leu130Phe	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	209	7	NM_006630	0	0	0	0	0	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	16	0.007326007326007326	0	0.0	1	0.0027624309392265192	0	0.0	15	0.01978891820580475	G	0.061	-1.224317	0.01530	9.95E-4	0.006208	ENSG00000167380	ENST00000426739	T	0.05447	3.44	3.34	-2.48	0.06423	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46925	-0.9156	9	0.09590	T	0.72	.	3.4279	0.07417	0.4494:0.0:0.3269:0.2237	.	130	Q14588	ZN234_HUMAN	F	130	ENSP00000400878:L130F	ENSP00000400878:L130F	L	+	3	2	ZNF226	49352399	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-0.211000	0.09332	-0.536000	0.06298	0.591000	0.81541	TTG	G|0.993;T|0.007		0.398	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			T	44660559	G	T	44660559	3	4	50	1	0	0	0	0	1	0	0	0	17835	1368	48	3	404	3	ZNF234	19	44660559	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	5299839	44660559	14468424	117	10510											
GLTSCR2	29997	hgsc.bcm.edu	37	chr19	48258619	48258619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcgggtacagcaggcCgcgttgcgggccgcccggct	16	16	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:48258619C>T	ENST00000246802.5	+	9	1106	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	356						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TACAGCAGGCCGCGTTGCGGG	0.721																																					p.A356A	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.C1068T						.																																			SO:0001819	synonymous_variant	29997	exon9			GCAGGCCGCGTTG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1068C>T	19.37:g.48258619C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_015710	0	0	158	299	141	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438155	0.12104	.	.	ENSG00000105373	ENST00000325566	.	.	.	3.97	-3.8	0.04307	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.30622	N	0.75839	.	.	.	.	.	.	T	0.43734	-0.9373	5	0.39692	T	0.17	-7.7767	4.7208	0.12917	0.0:0.1949:0.3227:0.4824	.	.	.	.	L	353	.	ENSP00000324079:P353L	P	+	2	0	GLTSCR2	52950431	0.000000	0.05858	0.021000	0.16686	0.727000	0.41649	-3.272000	0.00531	-0.590000	0.05866	-0.257000	0.10917	CCG	.		0.721	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		T	48258619	C	T	48258619	2	4	50	1	0	0	0	0	0	0	0	1	6501	639	23	1		1	GLTSCR2	19	48258619	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	3598060	48258619	10870364	118	10511											
RASIP1	54922	hgsc.bcm.edu	37	chr19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagccgggccaggcGgcccagcagtcgtggcaggt	17	12	0	2	rs2287922	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2	3	3		1801	4.2	1	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_017805	0	0	0	15	15	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49232226	G	A	49232226	3	1	50	1	0	0	0	0	1	0	0	0	13123	1116	39	1	1122	1	RASIP1	19	49232226	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	973607	49232226	9896757	119	10512											
TRPM4	54795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	49699903	49699903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcgtggatttccAgccggcgccgcccggctccc	14	17	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49699903A>G	ENST00000252826.5	+	17	2543	c.2417A>G	c.(2416-2418)cAg>cGg	p.Q806R	TRPM4_ENST00000355712.5_Missense_Mutation_p.Q452R|TRPM4_ENST00000427978.2_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	806					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTGGATTTCCAGCCGGCGCCG	0.657																																					p.Q806R		.											.	TRPM4-91	0			c.A2417G						.						21	19	19					19																	49699903		2148	4224	6372	SO:0001583	missense	54795	exon17			ATTTCCAGCCGGC	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2417A>G	19.37:g.49699903A>G	ENSP00000252826:p.Gln806Arg	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	55	26	NM_017636	0	0	2	2	0	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.407589	0.01155	.	.	ENSG00000130529	ENST00000252826;ENST00000355712	T;T	0.60040	0.22;0.22	3.91	-0.724	0.11177	.	0.633338	0.15732	N	0.247360	T	0.41743	0.1172	L	0.42529	1.33	0.09310	N	0.999996	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.09377	0.001;0.002;0.004	T	0.27773	-1.0064	10	0.15066	T	0.55	-5.8072	8.6911	0.34267	0.6693:0.0:0.3307:0.0	.	452;632;806	B4DIX5;Q8TD43-2;Q8TD43	.;.;TRPM4_HUMAN	R	806;452	ENSP00000252826:Q806R;ENSP00000347944:Q452R	ENSP00000252826:Q806R	Q	+	2	0	TRPM4	54391715	0.003000	0.15002	0.369000	0.25952	0.059000	0.15707	0.492000	0.22435	-0.357000	0.08175	-1.399000	0.01144	CAG	.		0.657	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		G	49699903	A	G	49699903	3	3	50	1	0	0	0	0	1	0	0	0	16636	188	7	4	2483	4	TRPM4	19	49699903	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	467677	49699903	9429080	120	10513											
SLC6A16	28968	broad.mit.edu	37	chr19	49812163	49812163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgatgtgtgatgactgtcGcccagaagcccaggacacag	13	11	0	3	rs534129369		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49812163G>A	ENST00000335875.4	-	7	1440	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	SLC6A16_ENST00000454748.3_Missense_Mutation_p.A400V|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	400					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GATGACTGTCGCCCAGAAGCC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		20092	0		0	False		,,,				2504	0				p.A400V		.											.	SLC6A16-94	0			c.C1199T						.						102	97	99					19																	49812163		1982	4162	6144	SO:0001583	missense	28968	exon7			ACTGTCGCCCAGA	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1199C>T	19.37:g.49812163G>A	ENSP00000338627:p.Ala400Val	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	148	5	NM_014037	0	0	0	0	0	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013835	0.75161	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.80824	-1.42;-1.42	4.27	2.14	0.27477	.	0.056803	0.64402	N	0.000002	D	0.90848	0.7125	H	0.95437	3.67	0.38758	D	0.95426	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.91182	0.4977	10	0.87932	D	0	.	8.7958	0.34878	0.187:0.0:0.813:0.0	.	400;400	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	V	400	ENSP00000338627:A400V;ENSP00000404022:A400V	ENSP00000338627:A400V	A	-	2	0	SLC6A16	54503975	1.000000	0.71417	0.661000	0.29709	0.027000	0.11550	8.387000	0.90167	0.745000	0.32763	0.561000	0.74099	GCG	.		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		A	49812163	G	A	49812163	3	1	50	1	0	0	0	0	1	0	0	0	14724	1087	38	1	1035	1	SLC6A16	19	49812163	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	112260	49812163	9316820	121	10514											
TSKS	60385	hgsc.bcm.edu	37	chr19	50249883	50249883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggccggggcagccctggGacgtggcggcggggcccagg	23	13	0	0	rs142807989	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:50249883G>A	ENST00000246801.3	-	6	918	c.836C>T	c.(835-837)tCc>tTc	p.S279F	TSKS_ENST00000358830.3_Missense_Mutation_p.S79F	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	279					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S279Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGCCCTGGGACGTGGCGGC	0.741													G|||	6	0.00119808	0	0.0014	5008	,	,		12913	0		0.005	False		,,,				2504	0				p.S279F		.											.	TSKS-154	1	Substitution - Missense(1)	central_nervous_system(1)	c.C836T						.	G	PHE/SER	2,4362		0,2,2180	14	16	15		836	2.3	0.3	19	dbSNP_134	15	25,8525		0,25,4250	no	missense	TSKS	NM_021733.1	155	0,27,6430	AA,AG,GG		0.2924,0.0458,0.2091	benign	279/593	50249883	27,12887	2182	4275	6457	SO:0001583	missense	60385	exon6			CCCTGGGACGTGG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.836C>T	19.37:g.50249883G>A	ENSP00000246801:p.Ser279Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	13	NM_021733	0	0	0	0	0	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	12.46	1.945926	0.34377	4.58E-4	0.002924	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.37411	1.2;1.2	4.51	2.31	0.28768	.	0.844658	0.10094	N	0.716874	T	0.15176	0.0366	N	0.14661	0.345	0.09310	N	0.999999	B	0.23735	0.09	B	0.26693	0.072	T	0.23797	-1.0178	10	0.51188	T	0.08	3.0E-4	4.532	0.12010	0.1171:0.0:0.6625:0.2203	.	279	Q9UJT2	TSKS_HUMAN	F	279;79	ENSP00000246801:S279F;ENSP00000351691:S79F	ENSP00000246801:S279F	S	-	2	0	TSKS	54941695	0.003000	0.15002	0.305000	0.25099	0.127000	0.20565	0.418000	0.21230	0.459000	0.27016	0.655000	0.94253	TCC	G|0.999;A|0.001		0.741	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		A	50249883	G	A	50249883	3	1	50	1	0	0	0	0	1	0	0	0	16674	1174	41	3	966	3	TSKS	19	50249883	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	437720	50249883	8879100	122	10515											
SHANK1	50944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51172454	51172454	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggacgtggtgggtggcggGggaatgtcctccgaaccagg	21	8	0	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:51172454G>T	ENST00000293441.1	-	22	2781	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	SHANK1_ENST00000391814.1_Silent_p.P929P|SHANK1_ENST00000359082.3_Silent_p.P912P|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391813.1_Silent_p.P308P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	921					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)		TGGGTGGCGGGGGAATGTCCT	0.657											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P921P		.											.	SHANK1-153	0			c.C2763A						.						22	21	21					19																	51172454		2203	4300	6503	SO:0001819	synonymous_variant	50944	exon22			TGGCGGGGGAATG	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.2763C>A	19.37:g.51172454G>T		Somatic	26	0	975	WXS	Illumina GAIIx	Phase_I	40	18	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			.		0.657	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		T	51172454	G	T	51172454	2	4	50	1	0	0	0	0	0	0	0	1	14309	1219	43	3		3	SHANK1	19	51172454	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	922571	51172454	7956529	123	10516											
DPRX	503834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54140161	54140161	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatatatactgcctctacccCattttggaatcccaagtttg	5	11	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:54140161C>G	ENST00000376650.1	+	3	546	c.495C>G	c.(493-495)ccC>ccG	p.P165P		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GCCTCTACCCCATTTTGGAAT	0.458																																					p.P165P		.											.	DPRX-90	0			c.C495G						.						114	112	113					19																	54140161		2203	4300	6503	SO:0001819	synonymous_variant	503834	exon3			CTACCCCATTTTG		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.495C>G	19.37:g.54140161C>G		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	166	71	NM_001012728	0	0	0	0	0		Silent	SNP	ENST00000376650.1	37	CCDS33103.1																																																																																			.		0.458	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		G	54140161	C	G	54140161	2	3	50	1	0	0	0	0	0	0	0	1	4752	581	21	3		3	DPRX	19	54140161	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	2967707	54140161	4988822	124	10517											
TMC4	147798	bcgsc.ca	37	chr19	54676763	54676763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccggggggccagccacCccctagaggagccccaggct	13	19	0	1	rs641738	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:54676763C>T	ENST00000376591.4	-	1	181	c.50G>A	c.(49-51)gGg>gAg	p.G17E	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.G17E	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	17			G -> E (in dbSNP:rs641738). {ECO:0000269|PubMed:12812529}.		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)					GGCCAGCCACCCCCTAGAGGA	0.632													C|||	1872	0.373802	0.32	0.3429	5008	,	,		15567	0.2173		0.4404	False		,,,				2504	0.5613				p.G17E		.											.	TMC4-91	0			c.G50A						.	C	GLU/GLY,GLU/GLY	1567,2839	480.3+/-358.8	280,1007,916	91	105	100		50,50	0.2	0	19	dbSNP_83	100	3725,4875	524.7+/-380.6	785,2155,1360	yes	missense,missense	TMC4	NM_001145303.1,NM_144686.2	98,98	1065,3162,2276	TT,TC,CC		43.314,35.5651,40.6889	benign,benign	17/713,17/707	54676763	5292,7714	2203	4300	6503	SO:0001583	missense	147798	exon1			AGCCACCCCCTAG	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.50G>A	19.37:g.54676763C>T	ENSP00000365776:p.Gly17Glu	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	64	5	NM_001145303	0	0	0	0	0	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	737	0.3374542124542125	159	0.3231707317073171	128	0.35359116022099446	112	0.1958041958041958	338	0.44591029023746703	C	11.35	1.613979	0.28712	0.355651	0.43314	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72615	-0.62;-0.67	3.92	0.213	0.15244	.	6.366860	0.00725	N	0.000915	T	0.00012	0.0000	L	0.45581	1.43	0.58432	P	9.000000000036756E-6	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.29088	-1.0023	9	0.05351	T	0.99	-3.0961	4.0735	0.09892	0.0:0.5573:0.1929:0.2497	rs641738;rs61242378;rs641738	17;17	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	E	17	ENSP00000301187:G17E;ENSP00000365776:G17E	ENSP00000301187:G17E	G	-	2	0	TMC4	59368575	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-1.506000	0.02271	0.015000	0.14971	0.462000	0.41574	GGG	C|0.615;T|0.385		0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			T	54676763	C	T	54676763	3	4	50	1	0	0	0	0	1	0	0	0	16034	623	22	3	2148	3	TMC4	19	54676763	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	536602	54676763	4452220	125	10518											
ZNF814	730051	ucsc.edu	37	chr19	58384712	58384712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataaggtctttctccagtAtggccatgctggtgtagaat	10	8	2	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:58384712A>G	ENST00000435989.2	-	3	2280	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	682					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCTCCAGTATGGCCATGCT	0.408																																					p.H682H		.											.	.	0			c.T2046C						.						68	57	60					19																	58384712		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TCCAGTATGGCCA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2046T>C	19.37:g.58384712A>G		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	189	1	NM_001144989	0	0	3	5	2	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384712	A	G	58384712	2	3	50	1	0	0	0	0	0	0	0	1	18224	446	16	4		4	ZNF814	19	58384712	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	3707949	58384712	744271	126	10519											
ZNF606	80095	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58500063	58500063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttgggtgaagtccacGgccacgtccttgaaggtcac	11	12	3	2	rs182994172	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:58500063G>A	ENST00000341164.4	-	5	824	c.204C>T	c.(202-204)gcC>gcT	p.A68A	ZNF606_ENST00000552579.1_5'UTR|ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		TGAAGTCCACGGCCACGTCCT	0.547																																					p.A68A		.											.	ZNF606-92	0			c.C204T						.						183	171	175					19																	58500063		2203	4300	6503	SO:0001819	synonymous_variant	80095	exon5			GTCCACGGCCACG	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.204C>T	19.37:g.58500063G>A		Somatic	67	1		WXS	Illumina GAIIx	Phase_I	90	43	NM_025027	0	0	0	0	0	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	CCDS12968.1																																																																																			G|0.999;T|0.001		0.547	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		A	58500063	G	A	58500063	2	1	50	1	0	0	0	0	0	0	0	1	18080	1103	39	1		1	ZNF606	19	58500063	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	115351	58500063	628920	127	10520											
IFT52	51098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	42233641	42233641	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttaatttttcttcttcaaGggaaattagccgagctgcag	8	7	3	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:42233641G>T	ENST00000373030.3	+	6	543		c.e6-1		IFT52_ENST00000373039.4_Splice_Site	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52						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)			TCTTCTTCAAGGGAAATTAGC	0.413																																					.		.											.	IFT52-92	0			c.414-1G>T						.						77	80	79					20																	42233641		2203	4300	6503	SO:0001630	splice_region_variant	51098	exon6			CTTCAAGGGAAAT	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.414-1G>T	20.37:g.42233641G>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	69	31	NM_016004	0	0	0	0	0	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Splice_Site	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139064	0.77775	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4356	0.87550	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT52	41667055	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.071000	0.93980	2.480000	0.83734	0.561000	0.74099	.	.		0.413	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Intron	T	42233641	G	T	42233641	5	4	50	1	0	0	0	0	0	0	1	0	7588	1014	35	3	431	3	IFT52	20	42233641	Splice_Site	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10		42233641	20791879	128	10521											
C20orf165	128497	bcgsc.ca	37	chr20	44515559	44515559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagctgcctcacatgcGggaatttgtggcagtttcgg	12	11	2	0	rs3827040	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:44515559G>A	ENST00000372519.3	-	2	325	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	94			P -> L (in dbSNP:rs3827040).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCACATGCGGGAATTTGTG	0.637													G|||	538	0.107428	0.202	0.062	5008	,	,		20003	0.1438		0.0209	False		,,,				2504	0.0634				p.P94L		.											.	.	0			c.C281T						.	G	LEU/PRO	800,3606	321.3+/-297.0	82,636,1485	123	124	124		281	1.9	0	20	dbSNP_107	124	101,8499	55.2+/-116.2	0,101,4199	yes	missense	C20orf165	NM_080608.3	98	82,737,5684	AA,AG,GG		1.1744,18.1571,6.9276	probably-damaging	94/228	44515559	901,12105	2203	4300	6503	SO:0001583	missense	128497	exon2			ACATGCGGGAATT	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.281C>T	20.37:g.44515559G>A	ENSP00000361597:p.Pro94Leu	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_080608	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372519.3	37	CCDS13383.1	202	0.0924908424908425	90	0.18292682926829268	22	0.06077348066298342	70	0.12237762237762238	20	0.026385224274406333	G	4.749	0.139295	0.09083	0.181571	0.011744	ENSG00000149634	ENST00000372519	T	0.59224	0.28	4.93	1.89	0.25635	.	0.254958	0.28349	N	0.015680	T	0.00109	0.0003	L	0.34521	1.04	0.58432	P	1.999999999946489E-6	B	0.24132	0.098	B	0.18871	0.023	T	0.04509	-1.0946	9	0.87932	D	0	-11.6784	5.9052	0.18992	0.1736:0.1577:0.6687:0.0	rs3827040;rs52798612;rs60326470;rs3827040	94	Q9BR10	CT165_HUMAN	L	94	ENSP00000361597:P94L	ENSP00000361597:P94L	P	-	2	0	C20orf165	43948966	0.738000	0.28186	0.000000	0.03702	0.075000	0.17131	3.143000	0.50608	0.263000	0.21812	-0.136000	0.14681	CCG	G|0.917;A|0.083		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			A	44515559	G	A	44515559	3	1	50	1	0	0	0	0	1	0	0	0	2101	1116	39	1	406	1	C20orf165	20	44515559	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	2281918	44515559	18509961	129	10522											
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	58450354	58450354	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctatagatgatggactGccagataaagatctgggaga	11	6	2	5			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:58450354G>T	ENST00000357552.3	-	34	3546	c.3321C>A	c.(3319-3321)ggC>ggA	p.G1107G	SYCP2_ENST00000371001.2_Silent_p.G1107G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1107					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)			ATGATGGACTGCCAGATAAAG	0.308																																					p.G1107G		.											.	SYCP2-525	0			c.C3321A						.						77	70	73					20																	58450354		2203	4299	6502	SO:0001819	synonymous_variant	10388	exon33			TGGACTGCCAGAT	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.3321C>A	20.37:g.58450354G>T		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	69	6	NM_014258	0	0	0	0	0	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																			.		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58450354	G	T	58450354	2	4	50	1	0	0	0	0	0	0	0	1	15479	1306	46	3		3	SYCP2	20	58450354	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	13934795	58450354	4575166	130	10523											
RGS19	10287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62705725	62705725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctcctcaggacttggCgtggcactgtgggcacgggg	16	12	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:62705725C>T	ENST00000395042.1	-	5	500	c.234G>A	c.(232-234)acG>acA	p.T78T	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.T78T	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	78					autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T78T(1)		lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CAGGACTTGGCGTGGCACTGT	0.667																																					p.T78T		.											.	RGS19-227	1	Substitution - coding silent(1)	prostate(1)	c.G234A						.						24	23	23					20																	62705725		2203	4299	6502	SO:0001819	synonymous_variant	10287	exon5			ACTTGGCGTGGCA	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"Regulators of G-protein signaling"	13735	protein-coding gene	gene with protein product		605071	"regulator of G-protein signalling 19"			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.234G>A	20.37:g.62705725C>T		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	131	64	NM_005873	0	0	0	0	0	A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	CCDS13555.1																																																																																			.		0.667	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		T	62705725	C	T	62705725	2	4	50	1	0	0	0	0	0	0	0	1	13346	755	27	1		1	RGS19	20	62705725	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	4255371	62705725	319795	131	10524											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36041978	36041978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgccgaggtgccccaAggaggggaggagacaagcgg	21	8	0	1	rs7280973		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36041978A>G	ENST00000360731.3	+	1	291	c.291A>G	c.(289-291)caA>caG	p.Q97Q	CLIC6_ENST00000349499.2_Silent_p.Q97Q			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	97						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGTGCCCCAAGGAGGGGAGG	0.796													G|||	5008	1	1	1	5008	,	,		8940	1		1	False		,,,				2504	1				p.Q97Q		.											.	CLIC6-91	0			c.A291G						.						2	2	2					21																	36041978		1056	2327	3383	SO:0001819	synonymous_variant	54102	exon1			GCCCCAAGGAGGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.291A>G	21.37:g.36041978A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				A|0.001;G|0.999		0.796	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36041978	A	G	36041978	2	3	50	1	0	0	0	0	0	0	0	1	3537	69	3	4		4	CLIC6	21	36041978	Silent	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10		36041978	12087917	132	10525											
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G													gggtctcgggtgagccgcagCaatcgggggacggcagcctc					rs13049028	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2	2	2		892	-0.8	0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042579	C	G	36042579	3	3	50	1	0	0	0	0	1	0	0	0	3537	711	25	3	894	3	CLIC6	21	36042579	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	601	36042579	12087316	133	10526	104	2									
CLIC6	54102	hgsc.bcm.edu	37	chr21	36042584	36042584	+	Silent	SNP	G	G	A													tcgggtgagccgcagcaatcGggggacggcagcctctcgcc					rs13049239	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2	2	2		897	-0.2	0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			A	36042584	G	A	36042584	2	1	50	1	0	0	0	0	0	0	0	1	3537	1103	39	1		1	CLIC6	21	36042584	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	5	36042584	12087311	134	10527	104	2									
U2AF1	7307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	44524486	44524486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgacgacatgctccaAttttgaaataaaatgaacag	6	9	0	3			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:44524486A>G	ENST00000291552.4	-	2	163	c.71T>C	c.(70-72)aTt>aCt	p.I24T	U2AF1_ENST00000380276.2_Missense_Mutation_p.I24T|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	24					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ACATGCTCCAATTTTGAAATA	0.378			Mis		"CLL, MDS"																																p.I24T		.		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	.	U2AF1-90	0			c.T71C						.						65	61	62					21																	44524486		2203	4300	6503	SO:0001583	missense	7307	exon2			GCTCCAATTTTGA	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.71T>C	21.37:g.44524486A>G	ENSP00000291552:p.Ile24Thr	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	125	44	NM_001025203	0	0	56	75	19	Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710497	0.68730	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.33216	1.42;1.42	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.43646	1.37	0.80722	D	1	D;P;P	0.89917	1.0;0.623;0.756	D;P;P	0.91635	0.999;0.462;0.456	T	0.48725	-0.9010	10	0.66056	D	0.02	-13.1066	15.535	0.75996	1.0:0.0:0.0:0.0	.	24;24;24	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	T	24	ENSP00000369629:I24T;ENSP00000291552:I24T	ENSP00000291552:I24T	I	-	2	0	U2AF1	43397555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.388000	0.90170	2.069000	0.61940	0.460000	0.39030	ATT	.		0.378	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		G	44524486	A	G	44524486	3	3	50	1	0	0	0	0	1	0	0	0	16870	101	4	4	750	4	U2AF1	21	44524486	Missense_Mutation	SNP	A	TCGA-OR-A5LC-01A-11D-A29I-10	8481902	44524486	3605409	135	10528											
COL6A2	1292	hgsc.bcm.edu	37	chr21	47552201	47552201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgccatcgtgcgcagccCgcgtggcggggcccggaggc	17	15	0	0	rs117725825	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:47552201C>T	ENST00000300527.4	+	28	2899	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	932	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.		P -> L (in BM; results in reduced intracellular collagen VI assembly and secretion). {ECO:0000269|PubMed:17886299}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGCGCAGCCCGCGTGGCGGG	0.672													C|||	8	0.00159744	8e-04	0	5008	,	,		16002	0		0.004	False		,,,				2504	0.0031				p.P932L		.											.	COL6A2-515	0			c.C2795T	GRCh37	CM076126	COL6A2	M	rs117725825	.	C	LEU/PRO	2,4396		0,2,2197	25	27	26		2795	3.2	0	21	dbSNP_133	26	22,8572		0,22,4275	yes	missense	COL6A2	NM_001849.3	98	0,24,6472	TT,TC,CC		0.256,0.0455,0.1847	benign	932/1020	47552201	24,12968	2199	4297	6496	SO:0001583	missense	1292	exon28			GCAGCCCGCGTGG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2795C>T	21.37:g.47552201C>T	ENSP00000300527:p.Pro932Leu	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	82	58	NM_001849	0	0	139	340	201	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816505	0.02776	4.55E-4	0.00256	ENSG00000142173	ENST00000300527	T	0.77750	-1.12	4.18	3.18	0.36537	von Willebrand factor, type A (3);	0.918398	0.09162	U	0.840028	T	0.69504	0.3118	L	0.39898	1.24	0.09310	N	1	B	0.25441	0.126	B	0.22753	0.041	T	0.61426	-0.7065	10	0.62326	D	0.03	-9.7797	9.2761	0.37700	0.19:0.6816:0.1284:0.0	.	932	P12110	CO6A2_HUMAN	L	932	ENSP00000300527:P932L	ENSP00000300527:P932L	P	+	2	0	COL6A2	46376629	0.002000	0.14202	0.006000	0.13384	0.001000	0.01503	1.516000	0.35856	1.891000	0.54761	0.313000	0.20887	CCG	C|0.998;T|0.002		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47552201	C	T	47552201	3	4	50	1	0	0	0	0	1	0	0	0	3707	652	23	1	3231	1	COL6A2	21	47552201	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	3027715	47552201	577694	136	10529											
MN1	4330	hgsc.bcm.edu	37	chr22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													tttggcgctgctgctgctgcTgctgttgctgttgctgttgc					rs202212250|rs530519178	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	TGCTGT	TGCTGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"AML, meningioma"																																p.544_546del		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1-993	0			c.1632_1637del						.			149,3245		28,93,1576						0.6	1		dbSNP_131	5	263,6801		42,179,3311	no	coding	MN1	NM_002430.2		70,272,4887	A1A1,A1R,RR		3.7231,4.3901,3.9396				412,10046				SO:0001651	inframe_deletion	4330	exon1			TGCTGCTGCTGTT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632_1637delACAGCA	22.37:g.28194901_28194906delTGCTGT	ENSP00000304956:p.Gln548_Gln549del	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	33	26	NM_002430	0	0	0	0	0	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	CCDS42998.1																																																																																			.		0.646	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		-	28194900	TGCTGT	-	28194895	7	5	50	1	0	1	0	1	0	0	0	0	9711	1580	55	0	2333	0	MN1	22	28194895	In_Frame_Del	DEL	TGCTGT	TCGA-OR-A5LC-01A-11D-A29I-10		28194895	23109671	137	10530											
RHBDD3	25807	bcgsc.ca	37	chr22	29656389	29656389	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccgtcaagaagcgaGgcctggatgccctcctgcag	14	14	1	1	rs2231398	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:29656389G>T	ENST00000216085.7	-	6	1333	c.909C>A	c.(907-909)gcC>gcA	p.A303A	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	303					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CAAGAAGCGAGGCCTGGATGC	0.667													G|||	858	0.171326	0.1006	0.245	5008	,	,		17314	0.0397		0.3608	False		,,,				2504	0.1554				p.A303A		.											.	RHBDD3-91	0			c.C909A						.	G		631,3775		46,539,1618	24	23	23		909	0.6	1	22	dbSNP_98	23	3246,5352		622,2002,1675	no	coding-synonymous	RHBDD3	NM_012265.1		668,2541,3293	TT,TG,GG		37.753,14.3214,29.8139		303/387	29656389	3877,9127	2203	4299	6502	SO:0001819	synonymous_variant	25807	exon6			AAGCGAGGCCTGG	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.909C>A	22.37:g.29656389G>T		Somatic	88	1		WXS	Illumina GAIIx	Phase_I	78	5	NM_012265	0	0	22	22	0	Q6I9X3|Q9UGQ7	Silent	SNP	ENST00000216085.7	37	CCDS13850.1																																																																																			G|0.749;T|0.251		0.667	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		T	29656389	G	T	29656389	2	4	50	1	0	0	0	0	0	0	0	1	13363	987	35	3		3	RHBDD3	22	29656389	Silent	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	1461494	29656389	21648177	138	10531											
SEC14L4	284904	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	30887672	30887672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcactctgctgctcccccatCttggtcttcaggaaaacccc	7	17	4	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:30887672C>G	ENST00000255858.7	-	11	1052	c.969G>C	c.(967-969)aaG>aaC	p.K323N	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.K323N|SEC14L4_ENST00000540456.1_Missense_Mutation_p.K308N|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.K269N	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	323	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)	GCTCCCCCATCTTGGTCTTCA	0.617																																					p.K323N		.											.	SEC14L4-91	0			c.G969C						.						97	89	92					22																	30887672		2203	4300	6503	SO:0001583	missense	284904	exon11			CCCCATCTTGGTC	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.969G>C	22.37:g.30887672C>G	ENSP00000255858:p.Lys323Asn	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	75	6	NM_001161368	0	0	0	0	0	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597039	0.28445	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.73	3.71	0.42584	GOLD (2);	0.152280	0.56097	D	0.000022	T	0.30727	0.0774	L	0.34521	1.04	0.80722	D	1	B;B;B	0.18968	0.004;0.032;0.005	B;B;B	0.16722	0.003;0.014;0.016	T	0.11275	-1.0594	10	0.46703	T	0.11	-3.0123	9.5751	0.39452	0.0:0.8365:0.0:0.1635	.	269;308;323	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	N	323;308;269;323	ENSP00000255858:K323N;ENSP00000440848:K308N;ENSP00000376525:K269N;ENSP00000371412:K323N	ENSP00000255858:K323N	K	-	3	2	SEC14L4	29217672	0.007000	0.16637	0.964000	0.40570	0.785000	0.44390	0.146000	0.16180	1.359000	0.45940	-0.216000	0.12614	AAG	.		0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		G	30887672	C	G	30887672	3	3	50	1	0	0	0	0	1	0	0	0	14029	912	32	3	265	3	SEC14L4	22	30887672	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	1231283	30887672	20416894	139	10532											
CARD10	29775	hgsc.bcm.edu	37	chr22	37915145	37915145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgcgtcctcctccgcCtcagaccccgagccggcccc	9	23	1	1	rs79861380	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:37915145C>T	ENST00000403299.1	-	2	279	c.63G>A	c.(61-63)gaG>gaA	p.E21E	CARD10_ENST00000251973.5_Silent_p.E21E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	21					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)					cctcctccgcctcagaccccg	0.756													C|||	295	0.0589058	0.1573	0.0548	5008	,	,		9486	0		0.0398	False		,,,				2504	0.0092				p.E21E		.											.	CARD10-662	0			c.G63A						.	C		625,3669		33,559,1555	8	9	9		63	3.9	1	22	dbSNP_131	9	324,8168		4,316,3926	no	coding-synonymous	CARD10	NM_014550.3		37,875,5481	TT,TC,CC		3.8154,14.5552,7.4222		21/1033	37915145	949,11837	2147	4246	6393	SO:0001819	synonymous_variant	29775	exon1			CTCCGCCTCAGAC	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.63G>A	22.37:g.37915145C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_014550	0	0	0	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																			C|0.935;T|0.065		0.756	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37915145	C	T	37915145	2	4	50	1	0	0	0	0	0	0	0	1	2651	680	24	3		3	CARD10	22	37915145	Silent	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	7027473	37915145	13389421	140	10533											
TCF20	6942	broad.mit.edu	37	chr22	42609400	42609400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccccaccattgctaggtgGcctttgagtggctgcaggat	13	11	0	1			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:42609400G>T	ENST00000359486.3	-	1	2048	c.1912C>A	c.(1912-1914)Cca>Aca	p.P638T	TCF20_ENST00000335626.4_Missense_Mutation_p.P638T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGCTAGGTGGCCTTTGAGTG	0.547																																					p.P638T		.											.	TCF20-95	0			c.C1912A						.						72	65	67					22																	42609400		2203	4300	6503	SO:0001583	missense	6942	exon1			TAGGTGGCCTTTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1912C>A	22.37:g.42609400G>T	ENSP00000352463:p.Pro638Thr	Somatic	112	1		WXS	Illumina GAIIx	Phase_I	94	5	NM_181492	0	0	1	1	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446021	0.43429	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61627	0.09;0.09	6.17	6.17	0.99709	.	0.092025	0.48286	D	0.000186	T	0.50017	0.1591	N	0.19112	0.55	0.80722	D	1	P;P	0.49559	0.925;0.877	P;B	0.49752	0.621;0.417	T	0.43637	-0.9379	10	0.33940	T	0.23	-11.2399	11.988	0.53159	0.0:0.1305:0.7341:0.1354	.	638;638	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	T	638	ENSP00000352463:P638T;ENSP00000335561:P638T	ENSP00000335561:P638T	P	-	1	0	TCF20	40939344	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	2.534000	0.45676	2.941000	0.99782	0.655000	0.94253	CCA	.		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42609400	G	T	42609400	3	4	50	1	0	0	0	0	1	0	0	0	15737	1203	42	3	4008	3	TCF20	22	42609400	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	4694255	42609400	8695166	141	10534											
PNPLA3	80339	bcgsc.ca	37	chr22	44322922	44322922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcctccgacagggtctcTgcaaatgcctcccggccaat	9	15	1	0	rs2076213	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:44322922T>G	ENST00000216180.3	+	2	468	c.295T>G	c.(295-297)Tgc>Ggc	p.C99G	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.C95G	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	99	Patatin.		C -> G (in dbSNP:rs2076213). {ECO:0000269|PubMed:15489334}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ACAGGGTCTCTGCAAATGCCT	0.522													T|||	362	0.0722843	0.0393	0.1628	5008	,	,		20589	0.0268		0.0855	False		,,,				2504	0.0859				p.C99G		.											.	PNPLA3-90	0			c.T295G						.	T	GLY/CYS	203,4203	126.6+/-163.6	3,197,2003	91	79	83		295	-2.1	0	22	dbSNP_96	83	838,7762	192.3+/-238.3	38,762,3500	yes	missense	PNPLA3	NM_025225.2	159	41,959,5503	GG,GT,TT		9.7442,4.6074,8.004	benign	99/482	44322922	1041,11965	2203	4300	6503	SO:0001583	missense	80339	exon2			GGTCTCTGCAAAT		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.295T>G	22.37:g.44322922T>G	ENSP00000216180:p.Cys99Gly	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	115	8	NM_025225	0	0	0	0	0	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	166	0.076007326007326	21	0.042682926829268296	61	0.1685082872928177	19	0.033216783216783216	65	0.08575197889182058	T	7.556	0.663724	0.14710	0.046074	0.097442	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.78816	-1.21;-0.99	5.68	-2.13	0.07144	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.465370	0.03714	N	0.250817	T	0.00144	0.0004	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03306	-1.1050	9	0.25751	T	0.34	-1.4464	0.6504	0.00826	0.2984:0.2845:0.1077:0.3094	rs2076213;rs17493955;rs17855951;rs57129774;rs2076213	99	Q9NST1	PLPL3_HUMAN	G	99;95	ENSP00000216180:C99G;ENSP00000397987:C95G	ENSP00000216180:C99G	C	+	1	0	PNPLA3	42654255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	0.008000	0.14787	-0.263000	0.10527	TGC	T|0.735;G|0.060;C|0.016;A|0.189		0.522	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		G	44322922	T	G	44322922	3	3	50	1	0	0	0	0	1	0	0	0	12205	1580	55	5	301	5	PNPLA3	22	44322922	Missense_Mutation	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10	1713522	44322922	6981644	142	10535											
PNPLA3	80339	bcgsc.ca	37	chr22	44322970	44322970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcatctccggcaaaataGgcatctctcttaccagagtg	8	12	4	1	rs2076212	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:44322970G>T	ENST00000216180.3	+	2	516	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.G111C	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	115	Patatin.		G -> C (in dbSNP:rs2076212). {ECO:0000269|PubMed:14702039}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CGGCAAAATAGGCATCTCTCT	0.502													T|||	610	0.121805	0.1513	0.1095	5008	,	,		22640	0.0694		0.1262	False		,,,				2504	0.1401				p.G115C		.											.	PNPLA3-90	0			c.G343T						.	T	CYS/GLY	697,3709	760.4+/-413.0	49,599,1555	88	78	81		343	-6.8	0	22	dbSNP_96	81	1155,7445	765.9+/-407.6	78,999,3223	yes	missense	PNPLA3	NM_025225.2	159	127,1598,4778	TT,TG,GG		13.4302,15.8193,14.2396	benign	115/482	44322970	1852,11154	2203	4300	6503	SO:0001583	missense	80339	exon2			AAAATAGGCATCT		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.343G>T	22.37:g.44322970G>T	ENSP00000216180:p.Gly115Cys	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	175	10	NM_025225	0	0	0	0	0	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	240	0.10989010989010989	70	0.14227642276422764	47	0.1298342541436464	36	0.06293706293706294	87	0.11477572559366754	T	1.886	-0.456571	0.04540	0.158193	0.134302	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.77229	-1.08;-1.08	5.5	-6.85	0.01681	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.730350	0.03006	N	0.148858	T	0.00241	0.0007	N	0.02357	-0.585	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	9	0.27785	T	0.31	-4.7916	6.1878	0.20508	0.1592:0.0569:0.4581:0.3258	rs2076212;rs17493969;rs59332912;rs2076212	115	Q9NST1	PLPL3_HUMAN	C	115;111	ENSP00000216180:G115C;ENSP00000397987:G111C	ENSP00000216180:G115C	G	+	1	0	PNPLA3	42654303	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.199000	0.09491	-1.567000	0.01671	-0.269000	0.10298	GGC	G|0.868;T|0.132		0.502	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		T	44322970	G	T	44322970	3	4	50	1	0	0	0	0	1	0	0	0	12205	1000	35	3	349	3	PNPLA3	22	44322970	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	48	44322970	6981596	143	10536											
GLRA2	2742	bcgsc.ca	37	chrX	14627144	14627144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgaggtcaagtttcaTctggaacgccaaatgggata	11	7	3	1	rs2229963	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:14627144T>C	ENST00000218075.4	+	7	1277	c.747T>C	c.(745-747)caT>caC	p.H249H	GLRA2_ENST00000443437.2_Silent_p.H160H|GLRA2_ENST00000355020.4_Silent_p.H249H	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	249					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)	TCAAGTTTCATCTGGAACGCC	0.383													T|||	820	0.217219	0.2277	0.1499	3775	,	,		13207	0.0139		0.2326	False		,,,				2504	0.1708				p.H249H		.											.	GLRA2-131	0			c.T747C						.	T	,,,	1075,2760		122,665,166,845,405	101	96	98		747,747,480,747	2.8	1	X	dbSNP_98	98	2050,4678		222,1044,562,1162,1310	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GLRA2	NM_001118885.1,NM_001118886.1,NM_001171942.1,NM_002063.3	,,,	344,1709,728,2007,1715	CC,CT,C,TT,T		30.4697,28.0313,29.5844	,,,	249/453,249/453,160/364,249/453	14627144	3125,7438	2203	4300	6503	SO:0001819	synonymous_variant	2742	exon7			GTTTCATCTGGAA		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.747T>C	X.37:g.14627144T>C		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	158	7	NM_002063	0	0	0	0	0	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	CCDS14160.1																																																																																			0|0.003;C|0.269		0.383	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			C	14627144	T	C	14627144	2	2	50	1	0	0	0	0	0	0	0	1	6481	1432	50	4		4	GLRA2	23	14627144	Silent	SNP	T	TCGA-OR-A5LC-01A-11D-A29I-10		14627144	140643416	144	10537											
IL13RA1	3597	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	117925779	117925779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggaggaaaccgactctGtagtgctgatagaaaacctg	11	9	1	2			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:117925779G>T	ENST00000371666.3	+	11	1313	c.1246G>T	c.(1246-1248)Gta>Tta	p.V416L	IL13RA1_ENST00000371637.3_Missense_Mutation_p.V215L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	416					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AACCGACTCTGTAGTGCTGAT	0.398																																					p.V416L		.											.	IL13RA1-554	0			c.G1246T						.						193	167	176					X																	117925779		2203	4300	6503	SO:0001583	missense	3597	exon11			GACTCTGTAGTGC	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1246G>T	X.37:g.117925779G>T	ENSP00000360730:p.Val416Leu	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	141	48	NM_001560	0	0	12	12	0	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708735	0.48517	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.91631	-2.88	5.18	4.32	0.51571	.	0.199967	0.32273	N	0.006322	D	0.93595	0.7955	L	0.53249	1.67	0.26836	N	0.968482	D	0.76494	0.999	D	0.76071	0.987	D	0.86849	0.2022	10	0.38643	T	0.18	-12.9856	9.1409	0.36903	0.1044:0.0:0.8956:0.0	.	416	P78552	I13R1_HUMAN	L	416;215	ENSP00000360730:V416L	ENSP00000360700:V215L	V	+	1	0	IL13RA1	117809807	1.000000	0.71417	0.574000	0.28523	0.970000	0.65996	4.431000	0.59915	1.085000	0.41206	0.600000	0.82982	GTA	.		0.398	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		T	117925779	G	T	117925779	3	4	50	1	0	0	0	0	1	0	0	0	7656	1377	48	3	1288	3	IL13RA1	23	117925779	Missense_Mutation	SNP	G	TCGA-OR-A5LC-01A-11D-A29I-10	103298635	117925779	37344781	145	10538											
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	129155104	129155104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccagtctccaggaaaaCgagccgacagccacgaggaa	11	13	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:129155104C>T	ENST00000218147.7	+	5	3783	c.3586C>T	c.(3586-3588)Cga>Tga	p.R1196*	BCORL1_ENST00000540052.1_Nonsense_Mutation_p.R1196*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.R1196*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.R1196*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1196					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCAGGAAAACGAGCCGACAG	0.647																																					p.R1196X		.											.	BCORL1-294	0			c.C3586T						.						30	31	31					X																	129155104		2201	4299	6500	SO:0001587	stop_gained	63035	exon4			GGAAAACGAGCCG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3586C>T	X.37:g.129155104C>T	ENSP00000218147:p.Arg1196*	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	321	158	NM_021946	0	0	1	2	1	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.111621|7.111621	0.98070|0.98070	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	.|.	.|.	.|.	6.17|6.17	4.25|4.25	0.50352|0.50352	.|.	0.000000|.	0.29900|.	N|.	0.010906|.	.|T	.|0.54029	.|0.1833	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63906	.|-0.6531	.|3	0.02654|.	T|.	1|.	-0.981|-0.981	10.5338|10.5338	0.44992|0.44992	0.1419:0.7821:0.0:0.076|0.1419:0.7821:0.0:0.076	.|.	.|.	.|.	.|.	X|M	1196;1196;1196;1196;796|631	.|.	ENSP00000218147:R1196X|.	R|T	+|+	1|2	2|0	BCORL1|BCORL1	128982785|128982785	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.506000|0.506000	0.33950|0.33950	1.655000|1.655000	0.37345|0.37345	1.354000|1.354000	0.45846|0.45846	0.600000|0.600000	0.82982|0.82982	CGA|ACG	.		0.647	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129155104	C	T	129155104	4	4	50	1	0	0	0	0	0	1	0	0	1388	528	19	1	3600	1	BCORL1	23	129155104	Nonsense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	11229325	129155104	26115456	146	10539											
MAP7D3	79649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135313873	135313873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccccttgggaggtgcttCcaggctcccctctggggctg	14	15	1	0			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:135313873C>T	ENST00000316077.9	-	8	1463	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.E380K|MAP7D3_ENST00000370663.5_Missense_Mutation_p.E397K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	415					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGCTTCCAGGCTCCCC	0.622																																					p.E415K		.											.	MAP7D3-110	0			c.G1243A						.						66	65	65					X																	135313873		1954	4107	6061	SO:0001583	missense	79649	exon8			GTGCTTCCAGGCT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1243G>A	X.37:g.135313873C>T	ENSP00000318086:p.Glu415Lys	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	183	90	NM_024597	0	0	0	1	1	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430486	0.43122	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.74002	3.15;-0.8;-0.8;3.15	4.98	3.21	0.36854	.	.	.	.	.	T	0.59321	0.2185	L	0.31578	0.945	0.09310	N	1	P;P;P;P	0.47191	0.826;0.891;0.826;0.891	B;B;B;B	0.41813	0.202;0.367;0.202;0.367	T	0.46247	-0.9205	9	0.30078	T	0.28	-4.5419	5.1583	0.15046	0.0:0.634:0.1682:0.1978	.	397;374;415;380	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	K	380;415;397;374	ENSP00000359695:E380K;ENSP00000318086:E415K;ENSP00000359697:E397K;ENSP00000359694:E374K	ENSP00000318086:E415K	E	-	1	0	MAP7D3	135141539	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.397000	0.07269	0.580000	0.29522	0.600000	0.82982	GAA	.		0.622	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135313873	C	T	135313873	3	4	50	1	0	0	0	0	1	0	0	0	9307	864	30	3	1431	3	MAP7D3	23	135313873	Missense_Mutation	SNP	C	TCGA-OR-A5LC-01A-11D-A29I-10	6158769	135313873	19956687	147	10540											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_003132	0	0	0	1	1	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	51	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10		11119899	238130722	1	10541											
SLC9A1	6548	broad.mit.edu;bcgsc.ca	37	chr1	27436203	27436203	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaagaagctcaggaagccGaggaagatgtccacgatgcc	13	10	1	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:27436203G>A	ENST00000263980.3	-	3	1454	c.879C>T	c.(877-879)ctC>ctT	p.L293L	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Silent_p.L293L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	293					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCAGGAAGCCGAGGAAGATGT	0.612																																					p.L293L		.											.	SLC9A1-91	0			c.C879T						.						146	144	145					1																	27436203		2203	4300	6503	SO:0001819	synonymous_variant	6548	exon3			GAAGCCGAGGAAG	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.879C>T	1.37:g.27436203G>A		Somatic	220	1		WXS	Illumina GAIIx	Phase_I	206	19	NM_003047	0	0	0	0	0	B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	CCDS295.1																																																																																			.		0.612	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		A	27436203	G	A	27436203	2	1	51	1	0	0	0	0	0	0	0	1	14754	1045	37	1		1	SLC9A1	1	27436203	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	16316304	27436203	221814418	2	10542											
KANK4	163782	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	62713267	62713267	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctgcagattgacatcTgcctggcagctaagcagcgc	12	12	1	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:62713267T>A	ENST00000371153.4	-	9	3138	c.2760A>T	c.(2758-2760)gcA>gcT	p.A920A	KANK4_ENST00000317477.4_Silent_p.A58A|KANK4_ENST00000354381.3_Silent_p.A292A|KANK4_ENST00000371150.1_Silent_p.A276A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	920						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GATTGACATCTGCCTGGCAGC	0.627																																					p.A920A		.											.	KANK4-74	0			c.A2760T						.						101	84	90					1																	62713267		2203	4300	6503	SO:0001819	synonymous_variant	163782	exon9			GACATCTGCCTGG	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2760A>T	1.37:g.62713267T>A		Somatic	178	3		WXS	Illumina GAIIx	Phase_I	140	44	NM_181712	0	0	0	0	0	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																			.		0.627	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		A	62713267	T	A	62713267	2	1	51	1	0	0	0	0	0	0	0	1	8006	1567	55	5		5	KANK4	1	62713267	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	35277064	62713267	186537354	3	10543											
CLCA4	22802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	87033202	87033202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggggatggttcactttgaTagtactgccactattgtaaa	11	6	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:87033202T>C	ENST00000370563.3	+	7	1092	c.1050T>C	c.(1048-1050)gaT>gaC	p.D350D	CLCA4_ENST00000263723.5_Silent_p.D63D	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	350	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTCACTTTGATAGTACTGCCA	0.418																																					p.D350D		.											.	CLCA4-92	0			c.T1050C						.						100	101	100					1																	87033202		1946	4177	6123	SO:0001819	synonymous_variant	22802	exon7			CTTTGATAGTACT	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1050T>C	1.37:g.87033202T>C		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	142	49	NM_012128	0	0	0	0	0	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																			.		0.418	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		C	87033202	T	C	87033202	2	2	51	1	0	0	0	0	0	0	0	1	3466	1403	49	4		4	CLCA4	1	87033202	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	24319935	87033202	162217419	4	10544											
SLC25A24	29957	bcgsc.ca	37	chr1	108728484	108728484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaactcttaaatgccaaTttcattttcttctcatggtc	3	10	5	0	rs862493	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:108728484T>C	ENST00000565488.1	-	2	495	c.276A>G	c.(274-276)aaA>aaG	p.K92K	SLC25A24_ENST00000370041.4_Silent_p.K73K	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	92	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TAAATGCCAATTTCATTTTCT	0.303													T|||	825	0.164736	0.1815	0.1657	5008	,	,		14544	0.0794		0.2157	False		,,,				2504	0.1769				p.K92K		.											.	SLC25A24-91	0			c.A276G						.	T	,	815,3581	315.2+/-294.0	86,643,1469	96	91	93		276,219	0.8	0.9	1	dbSNP_86	93	1794,6794	310.8+/-310.0	193,1408,2693	no	coding-synonymous,coding-synonymous	SLC25A24	NM_013386.3,NM_213651.1	,	279,2051,4162	CC,CT,TT		20.8896,18.5396,20.094	,	92/478,73/459	108728484	2609,10375	2198	4294	6492	SO:0001819	synonymous_variant	29957	exon2			TGCCAATTTCATT	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.276A>G	1.37:g.108728484T>C		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	90	6	NM_013386	0	0	2	2	0	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	CCDS41361.1																																																																																			C|0.183;N|0.000		0.303	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		C	108728484	T	C	108728484	2	2	51	1	0	0	0	0	0	0	0	1	14532	1490	52	4		4	SLC25A24	1	108728484	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	21695282	108728484	140522137	5	10545											
POGZ	23126	hgsc.bcm.edu;broad.mit.edu	37	chr1	151397436	151397437	+	Frame_Shift_Del	DEL	TG	TG	-													ggtgatatcacttacacacaTgtgacctctcaaagcttcag							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:151397436_151397437delTG	ENST00000271715.2	-	8	1493_1494	c.1179_1180delCA	c.(1177-1182)cacatgfs	p.M394fs	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Frame_Shift_Del_p.M332fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.M341fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.M341fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.M341fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.M299fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.M385fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	394					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CTTACACACATGTGACCTCTCA	0.431																																					p.393_394del		.											.	POGZ-93	0			c.1179_1180del						.																																			SO:0001589	frameshift_variant	23126	exon8			CACACATGTGACC	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1179_1180delCA	1.37:g.151397438_151397439delTG	ENSP00000271715:p.Met394fs	Somatic	295	0		WXS	Illumina GAIIx	Phase_I	259	23	NM_015100	0	0	0	0	0	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	CCDS997.1																																																																																			.		0.431	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		-	151397437	TG	-	151397436	7	5	51	1	0	1	0	1	0	0	0	0	12225	1464	51	0	3100	0	POGZ	1	151397436	Frame_Shift_Del	DEL	TG	TCGA-OR-A5LD-01A-11D-A29I-10	42668952	151397436	97853185	6	10546											
TNR	7143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175293508	175293508	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgactgtgcctggacTccccgtacttcccattgagg	9	14	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:175293508T>A	ENST00000367674.2	-	22	4649	c.3941A>T	c.(3940-3942)gAg>gTg	p.E1314V	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.E1314V			Q92752	TENR_HUMAN	tenascin R	1314	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGCCTGGACTCCCCGTACTT	0.493																																					p.E1314V		.											.	TNR-324	0			c.A3941T						.						190	138	156					1																	175293508		2203	4300	6503	SO:0001583	missense	7143	exon22			CTGGACTCCCCGT	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3941A>T	1.37:g.175293508T>A	ENSP00000356646:p.Glu1314Val	Somatic	294	0		WXS	Illumina GAIIx	Phase_I	257	67	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959588	0.92791	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.22336	1.96;1.96	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.15407	-1.0438	10	0.52906	T	0.07	.	15.5673	0.76303	0.0:0.0:0.0:1.0	.	1314	Q92752	TENR_HUMAN	V	1314;1314;1224	ENSP00000356646:E1314V;ENSP00000263525:E1314V	ENSP00000263525:E1314V	E	-	2	0	TNR	173560131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.930000	0.87610	2.154000	0.67381	0.533000	0.62120	GAG	.		0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175293508	T	A	175293508	3	1	51	1	0	0	0	0	1	0	0	0	16385	1551	54	5	143	5	TNR	1	175293508	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	23896072	175293508	73957113	7	10547											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186092320	186092320	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagccaatgtagcaggatCaagcagcacaagcaccaagc	11	12	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:186092320C>T	ENST00000271588.4	+	81	12696	c.12467C>T	c.(12466-12468)tCa>tTa	p.S4156L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4156L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4156	Ig-like C2-type 40.				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						GTAGCAGGATCAAGCAGCACA	0.502																																					p.S4156L		.											.	HMCN1-113	0			c.C12467T						.						57	42	47					1																	186092320		2203	4300	6503	SO:0001583	missense	83872	exon81			CAGGATCAAGCAG	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.12467C>T	1.37:g.186092320C>T	ENSP00000271588:p.Ser4156Leu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	103	32	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960547	0.53400	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.85	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181260	0.48767	D	0.000178	T	0.78201	0.4246	L	0.55103	1.725	0.49051	D	0.999741	D	0.71674	0.998	D	0.79784	0.993	T	0.78163	-0.2311	10	0.42905	T	0.14	.	16.467	0.84081	0.1321:0.8678:0.0:0.0	.	4156	Q96RW7	HMCN1_HUMAN	L	4156	ENSP00000271588:S4156L;ENSP00000356462:S4156L	ENSP00000271588:S4156L	S	+	2	0	HMCN1	184358943	1.000000	0.71417	0.471000	0.27229	0.051000	0.14879	5.372000	0.66156	1.466000	0.48025	0.655000	0.94253	TCA	.		0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186092320	C	T	186092320	3	4	51	1	0	0	0	0	1	0	0	0	7247	838	29	3	12789	3	HMCN1	1	186092320	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	10798812	186092320	63158301	8	10548											
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	204923329	204923329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagcttccactggacaCgaaacagcagattcttcaac	6	14	2	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:204923329C>T	ENST00000401399.1	+	5	428	c.229C>T	c.(229-231)Cga>Tga	p.R77*	NFASC_ENST00000338586.6_Nonsense_Mutation_p.R77*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.R71*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.R71*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.R77*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.R77*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.R77*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.R71*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.R71*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.R77*|NFASC_ENST00000367172.4_Nonsense_Mutation_p.R77*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.R77*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.R77*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.R71*			O94856	NFASC_HUMAN	neurofascin	77	Ig-like C2-type 1.				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)			CCACTGGACACGAAACAGCAG	0.617																																					p.R77X		.											.	NFASC-139	0			c.C229T						.						52	48	49					1																	204923329		2203	4300	6503	SO:0001587	stop_gained	23114	exon6			TGGACACGAAACA	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.229C>T	1.37:g.204923329C>T	ENSP00000385637:p.Arg77*	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	120	12	NM_001005388	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	38	6.758924	0.97817	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.	.	.	5.37	3.38	0.38709	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1434	0.59448	0.4451:0.5549:0.0:0.0	.	.	.	.	X	77;77;77;77;77;77;71;71;71;77;77;77;71;77;77;71;71;47	.	ENSP00000295776:R71X	R	+	1	2	NFASC	203189952	0.974000	0.33945	0.675000	0.29917	0.804000	0.45430	2.457000	0.45005	1.216000	0.43427	-0.274000	0.10170	CGA	.		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204923329	C	T	204923329	4	4	51	1	0	0	0	0	0	1	0	0	10398	528	19	1	243	1	NFASC	1	204923329	Nonsense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	18831009	204923329	44327292	9	10549											
CR2	1380	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	207643213	207643213	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacagttgatagtcagAagactgggacctggagtggc	15	6	1	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr1:207643213A>T	ENST00000367058.3	+	6	1180	c.991A>T	c.(991-993)Aag>Tag	p.K331*	CR2_ENST00000367059.3_Nonsense_Mutation_p.K331*|CR2_ENST00000367057.3_Nonsense_Mutation_p.K331*|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Nonsense_Mutation_p.K331*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	331	Sushi 5. {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						TGATAGTCAGAAGACTGGGAC	0.522																																					p.K331X		.											.	CR2-232	0			c.A991T						.						117	101	106					1																	207643213		2203	4300	6503	SO:0001587	stop_gained	1380	exon6			AGTCAGAAGACTG	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.991A>T	1.37:g.207643213A>T	ENSP00000356025:p.Lys331*	Somatic	163	2		WXS	Illumina GAIIx	Phase_I	156	22	NM_001006658	0	0	0	0	0	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194930	0.78902	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.09	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0476	0.09779	0.4476:0.0:0.3818:0.1706	.	.	.	.	X	331	.	ENSP00000356024:K331X	K	+	1	0	CR2	205709836	0.000000	0.05858	0.004000	0.12327	0.767000	0.43475	-0.128000	0.10531	-0.118000	0.11851	0.459000	0.35465	AAG	.		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207643213	A	T	207643213	4	4	51	1	0	0	0	0	0	1	0	0	3849	247	9	5	1013	5	CR2	1	207643213	Nonsense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	2719884	207643213	41607408	10	10550											
TPO	7173	hgsc.bcm.edu	37	chr2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggagacggccgcgccaGcgaggtcccctccctgacgg	16	17	0	2	rs2175977	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2	2	2		1193,1193,1193,1193,1193,	4.1	1	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		C	1481231	G	C	1481231	3	2	51	1	0	0	0	0	1	0	0	0	16458	971	34	3	1219	3	TPO	2	1481231	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		1481231	241718142	11	10551											
C2orf71	388939	broad.mit.edu;bcgsc.ca	37	chr2	29296512	29296512	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtctgggtggcctgatGgatgatgcacagaattgctt	15	8	1	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:29296512G>C	ENST00000331664.5	-	1	615	c.616C>G	c.(616-618)Cat>Gat	p.H206D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	206					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						GTGGCCTGATGGATGATGCAC	0.557																																					p.H206D		.											.	C2orf71-91	0			c.C616G						.						83	87	86					2																	29296512		2040	4201	6241	SO:0001583	missense	388939	exon1			CCTGATGGATGAT		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.616C>G	2.37:g.29296512G>C	ENSP00000332809:p.His206Asp	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	164	8	NM_001029883	0	0	0	0	0		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346075	0.24426	.	.	ENSG00000179270	ENST00000331664	T	0.18016	2.24	5.52	4.59	0.56863	.	0.410754	0.25817	N	0.028116	T	0.12561	0.0305	L	0.39898	1.24	0.23440	N	0.997676	B	0.13594	0.008	B	0.17722	0.019	T	0.22626	-1.0211	10	0.14252	T	0.57	-2.2757	8.5843	0.33649	0.0:0.12:0.5075:0.3726	.	206	A6NGG8	CB071_HUMAN	D	206	ENSP00000332809:H206D	ENSP00000332809:H206D	H	-	1	0	C2orf71	29150016	0.986000	0.35501	0.029000	0.17559	0.859000	0.49053	2.735000	0.47377	2.600000	0.87896	0.561000	0.74099	CAT	.		0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		C	29296512	G	C	29296512	3	2	51	1	0	0	0	0	1	0	0	0	2198	1348	47	3	3258	3	C2orf71	2	29296512	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	27815281	29296512	213902861	12	10552											
PEX13	5194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	61275821	61275821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgaacaggaagctgcCtttgaatctgtttttgttga	11	5	1	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:61275821C>T	ENST00000295030.5	+	4	1166	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	376					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			AGGAAGCTGCCTTTGAATCTG	0.393																																					p.A376A		.											.	PEX13-91	0			c.C1128T						.						117	113	115					2																	61275821		2203	4300	6503	SO:0001819	synonymous_variant	5194	exon4			AGCTGCCTTTGAA	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"peroxisome biogenesis factor 13"			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.1128C>T	2.37:g.61275821C>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	169	31	NM_002618	0	0	5	7	2	B2RCS1	Silent	SNP	ENST00000295030.5	37	CCDS1866.1																																																																																			.		0.393	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		T	61275821	C	T	61275821	2	4	51	1	0	0	0	0	0	0	0	1	11780	668	24	3		3	PEX13	2	61275821	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	31979309	61275821	181923552	13	10553											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	51	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	49096371	110372192	132827181	14	10554											
GLI2	2736	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	121747796	121747796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccgcctccgcaggacGcaggtggggccccggaccac	14	19	0	0	rs376388820		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:121747796G>A	ENST00000452319.1	+	14	4366	c.4306G>A	c.(4306-4308)Gca>Aca	p.A1436T	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1436T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCGCAGGACGCAGGTGGGGC	0.642																																					p.A1436T		.											.	GLI2-954	0			c.G4306A						.	G	THR/ALA	0,4406		0,0,2203	40	45	43		4306	-7.6	0	2		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1436/1587	121747796	1,13005	2203	4300	6503	SO:0001583	missense	2736	exon13			CAGGACGCAGGTG		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.4306G>A	2.37:g.121747796G>A	ENSP00000390436:p.Ala1436Thr	Somatic	256	1		WXS	Illumina GAIIx	Phase_I	312	66	NM_005270	0	0	4	4	0		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.332070	0.00227	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13901	2.55;2.55	4.41	-7.57	0.01318	.	0.666529	0.14198	N	0.334886	T	0.02610	0.0079	N	0.01267	-0.92	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38866	-0.9641	9	.	.	.	.	5.5669	0.17175	0.2425:0.119:0.5215:0.117	.	1436;1091	P10070;P10070-2	GLI2_HUMAN;.	T	1436	ENSP00000390436:A1436T;ENSP00000354586:A1436T	.	A	+	1	0	GLI2	121464266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.277000	0.02812	-1.234000	0.02548	-2.002000	0.00443	GCA	.		0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121747796	G	A	121747796	3	1	51	1	0	0	0	0	1	0	0	0	6464	1087	38	1	4356	1	GLI2	2	121747796	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	11375604	121747796	121451577	15	10555											
NXPH2	11249	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	139429091	139429091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatggggccgggcttggGcaccggagactgtttaacaa	15	11	0	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:139429091G>A	ENST00000272641.3	-	2	302	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	66	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCGGGCTTGGGCACCGGAGAC	0.552																																					p.P66S		.											.	NXPH2-72	0			c.C196T						.						115	114	114					2																	139429091		1928	4135	6063	SO:0001583	missense	11249	exon2			GCTTGGGCACCGG	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.196C>T	2.37:g.139429091G>A	ENSP00000272641:p.Pro66Ser	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	115	8	NM_007226	0	0	0	0	0	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566525	0.13560	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	2.98	0.34508	.	0.286388	0.39544	N	0.001328	T	0.36138	0.0956	L	0.36672	1.1	0.26682	N	0.971521	B	0.02656	0.0	B	0.08055	0.003	T	0.18241	-1.0343	8	.	.	.	-4.4449	13.429	0.61044	0.1992:0.0:0.8008:0.0	.	66	O95156	NXPH2_HUMAN	S	66	.	.	P	-	1	0	NXPH2	139145561	0.786000	0.28738	0.564000	0.28396	0.962000	0.63368	0.987000	0.29603	0.919000	0.36945	0.655000	0.94253	CCC	.		0.552	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			A	139429091	G	A	139429091	3	1	51	1	0	0	0	0	1	0	0	0	10830	1203	42	3	602	3	NXPH2	2	139429091	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	17681295	139429091	103770282	16	10556											
MAP2	4133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	210557459	210557459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagcaaagtaagcctGgtgaagaccttaaacatgct	10	8	0	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:210557459G>T	ENST00000360351.4	+	7	1071	c.565G>T	c.(565-567)Ggt>Tgt	p.G189C	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G185C|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	189					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAGTAAGCCTGGTGAAGACCT	0.463																																					p.G189C	Pancreas(27;423 979 28787 29963)	.											.	MAP2-591	0			c.G565T						.						90	76	81					2																	210557459		2203	4300	6503	SO:0001583	missense	4133	exon7			AAGCCTGGTGAAG		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.565G>T	2.37:g.210557459G>T	ENSP00000353508:p.Gly189Cys	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	162	37	NM_002374	0	0	0	0	0	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074297	0.76415	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.20881	2.04;2.04;2.04	5.98	5.1	0.69264	.	0.112697	0.40554	N	0.001079	T	0.31327	0.0793	L	0.57536	1.79	0.31643	N	0.647786	D;D	0.59357	0.985;0.975	P;P	0.54026	0.74;0.554	T	0.37686	-0.9695	10	0.87932	D	0	-20.7424	8.7483	0.34600	0.2095:0.0:0.7905:0.0	.	185;189	P11137-3;P11137	.;MAP2_HUMAN	C	189;271;185	ENSP00000353508:G189C;ENSP00000409969:G271C;ENSP00000392164:G185C	ENSP00000353508:G189C	G	+	1	0	MAP2	210265704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.277000	0.43417	2.838000	0.97847	0.655000	0.94253	GGT	.		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210557459	G	T	210557459	3	4	51	1	0	0	0	0	1	0	0	0	9273	1348	47	3	579	3	MAP2	2	210557459	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	71128368	210557459	32641914	17	10557											
ARPC2	10109	broad.mit.edu	37	chr2	219103504	219103505	+	Frame_Shift_Ins	INS	-	-	C													tctgtctttgaaaaatacttINSccaattccaagaagagggca							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:219103504_219103505insC	ENST00000295685.10	+	5	647_648	c.386_387insC	c.(385-390)ttccaafs	p.Q130fs	ARPC2_ENST00000315717.5_Frame_Shift_Ins_p.Q130fs|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	130					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)		GAAAAATACTTCCAATTCCAAG	0.426																																					p.F129fs		.											.	ARPC2-91	0			c.386_387insC						.																																			SO:0001589	frameshift_variant	10109	exon5			AATACTTCCAATT	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.388dupC	2.37:g.219103506_219103506dupC	ENSP00000295685:p.Gln130fs	Somatic	263	0		WXS	Illumina GAIIx	Phase_I	349	8	NM_005731	0	0	0	0	0	Q92801|Q9P1D4	Frame_Shift_Ins	INS	ENST00000295685.10	37	CCDS2410.1																																																																																			.		0.426	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		C	219103505	-	C	219103504	7	5	51	1	0	1	1	0	0	0	0	0	972	1783	62	0	404	0	ARPC2	2	219103504	Frame_Shift_Ins	INS	-	TCGA-OR-A5LD-01A-11D-A29I-10	8546045	219103504	24095869	18	10558											
SP140	11262	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	231102964	231102964	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaacctggtcccagtgAcaagagtgatgtattgtgta	11	6	0	4			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:231102964A>T	ENST00000392045.3	+	3	388	c.274A>T	c.(274-276)Aca>Tca	p.T92S	SP140_ENST00000350136.5_Missense_Mutation_p.T72S|SP140_ENST00000417495.3_Missense_Mutation_p.T92S|SP140_ENST00000343805.6_Missense_Mutation_p.T92S|SP140_ENST00000373645.3_Missense_Mutation_p.T92S|SP140_ENST00000486687.2_Missense_Mutation_p.T92S|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000420434.3_Missense_Mutation_p.T92S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	92	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCCCAGTGACAAGAGTGAT	0.383																																					p.T92S		.											.	SP140-90	0			c.A274T						.						118	112	114					2																	231102964		2203	4300	6503	SO:0001583	missense	11262	exon3			CCAGTGACAAGAG	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.274A>T	2.37:g.231102964A>T	ENSP00000375899:p.Thr92Ser	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	252	29	NM_007237	0	0	0	0	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	A	0.169	-1.073835	0.01918	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	3.36	-5.8	0.02347	Sp100 (2);	.	.	.	.	T	0.74261	0.3693	N	0.01048	-1.04	0.09310	N	1	B;B;B;B;P;B	0.39216	0.059;0.011;0.009;0.002;0.664;0.004	B;B;B;B;B;B	0.38842	0.041;0.011;0.01;0.029;0.283;0.011	T	0.73701	-0.3900	9	0.14252	T	0.57	-0.1529	6.1431	0.20271	0.2749:0.3679:0.3572:0.0	.	92;92;92;92;92;92	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	S	92;92;92;72;92;92;92;92;92	ENSP00000440107:T92S;ENSP00000345846:T72S;ENSP00000375899:T92S;ENSP00000342096:T92S;ENSP00000398210:T92S;ENSP00000362749:T92S	ENSP00000342096:T92S	T	+	1	0	SP140	230811208	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-3.197000	0.00562	-1.429000	0.01987	-2.794000	0.00115	ACA	.		0.383	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231102964	A	T	231102964	3	4	51	1	0	0	0	0	1	0	0	0	15007	275	10	5	284	5	SP140	2	231102964	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	11999460	231102964	12096409	19	10559											
ESPNL	339768	hgsc.bcm.edu	37	chr2	239009289	239009289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaccccagcgcatgacGccgctgccacgggcagcctg	14	18	0	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr2:239009289G>A	ENST00000343063.3	+	1	492	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ESPNL_ENST00000409169.1_Missense_Mutation_p.A77T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	77										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCGCATGACGCCGCTGCCAC	0.736																																					p.A77T		.											.	ESPNL-69	0			c.G229A						.						2	3	3					2																	239009289		1711	3586	5297	SO:0001583	missense	339768	exon1			CATGACGCCGCTG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.229G>A	2.37:g.239009289G>A	ENSP00000339115:p.Ala77Thr	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	19	6	NM_194312	0	0	0	0	0	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861974	0.71949	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	D;D	0.83075	-1.68;-1.56	4.1	4.1	0.47936	Ankyrin repeat-containing domain (4);	0.000000	0.64402	U	0.000015	D	0.88599	0.6480	M	0.90595	3.13	0.80722	D	1	D	0.61080	0.989	P	0.51806	0.68	D	0.90440	0.4431	10	0.72032	D	0.01	-12.6572	11.0966	0.48147	0.0:0.0:0.814:0.1859	.	77	Q6ZVH7	ESPNL_HUMAN	T	77	ENSP00000339115:A77T;ENSP00000386577:A77T	ENSP00000339115:A77T	A	+	1	0	ESPNL	238674028	1.000000	0.71417	0.068000	0.19968	0.368000	0.29767	6.551000	0.73909	1.838000	0.53458	0.462000	0.41574	GCC	.		0.736	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239009289	G	A	239009289	3	1	51	1	0	0	0	0	1	0	0	0	5271	1087	38	1	231	1	ESPNL	2	239009289	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	7906325	239009289	4190084	20	10560											
IQSEC1	9922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	12977227	12977227	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccaagtggctgtccaggGgcctggggggccggggccgc	21	12	0	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:12977227G>C	ENST00000273221.4	-	3	1547	c.1331C>G	c.(1330-1332)cCc>cGc	p.P444R	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	444					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						GCTGTCCAGGGGCCTGGGGGG	0.667																																					p.P444R		.											.	IQSEC1-91	0			c.C1331G						.						35	38	37					3																	12977227		2202	4300	6502	SO:0001583	missense	9922	exon3			TCCAGGGGCCTGG	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.1331C>G	3.37:g.12977227G>C	ENSP00000273221:p.Pro444Arg	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	54	12	NM_014869	0	0	0	0	0	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942589	0.53079	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.41758	0.99;0.99	5.38	4.51	0.55191	.	0.338170	0.32687	N	0.005761	T	0.40719	0.1128	.	.	.	0.44547	D	0.997501	P;P;P	0.51933	0.941;0.941;0.949	P;P;P	0.47864	0.559;0.536;0.548	T	0.12863	-1.0531	9	0.17369	T	0.5	.	14.0251	0.64582	0.073:0.0:0.927:0.0	.	430;430;444	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	R	444;430;430	ENSP00000273221:P444R;ENSP00000402299:P430R	ENSP00000273221:P444R	P	-	2	0	IQSEC1	12952227	1.000000	0.71417	0.972000	0.41901	0.809000	0.45718	5.566000	0.67372	1.272000	0.44329	0.655000	0.94253	CCC	.		0.667	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		C	12977227	G	C	12977227	3	2	51	1	0	0	0	0	1	0	0	0	7844	1232	43	3	2153	3	IQSEC1	3	12977227	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		12977227	185045203	21	10561											
LSM3	27258	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	14220380	14220380	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcggacgacgtagaccAggtaagtgtattttaaggag	14	6	0	1	rs200658802		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:14220380A>C	ENST00000306024.3	+	1	523	c.20A>C	c.(19-21)cAg>cCg	p.Q7P	XPC_ENST00000449060.2_5'Flank|XPC_ENST00000285021.7_5'Flank	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	7					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						GACGTAGACCAGGTAAGTGTA	0.517																																					p.Q7P		.											.	LSM3-91	0			c.A20C						.						111	105	107					3																	14220380		2203	4300	6503	SO:0001630	splice_region_variant	27258	exon1			TAGACCAGGTAAG	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.21+1A>C	3.37:g.14220380A>C		Somatic	152	9		WXS	Illumina GAIIx	Phase_I	138	42	NM_014463	0	0	0	0	0	Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	ENST00000306024.3	37	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113312	0.56398	.	.	ENSG00000170860	ENST00000306024	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30208	-0.9986	9	0.34782	T	0.22	-10.1698	14.4451	0.67345	1.0:0.0:0.0:0.0	.	7	P62310	LSM3_HUMAN	P	7	.	ENSP00000302160:Q7P	Q	+	2	0	LSM3	14195384	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.735000	0.74806	2.085000	0.62840	0.482000	0.46254	CAG	A|0.999;C|0.001		0.517	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463	Missense_Mutation	C	14220380	A	C	14220380	5	2	51	1	0	0	0	0	0	0	1	0	9092	202	7	5	22	5	LSM3	3	14220380	Splice_Site	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	1243153	14220380	183802050	22	10562											
LZTFL1	54585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	45879475	45879475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttttgagtctcaagcctctCtttgaacgagcaaaacgcat	8	10	2	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:45879475C>G	ENST00000296135.6	-	2	246	c.72G>C	c.(70-72)aaG>aaC	p.K24N	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Missense_Mutation_p.K7N|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	24					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TCAAGCCTCTCTTTGAACGAG	0.393																																					p.K24N		.											.	LZTFL1-90	0			c.G72C						.						76	77	76					3																	45879475		2203	4300	6503	SO:0001583	missense	54585	exon2			GCCTCTCTTTGAA	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.72G>C	3.37:g.45879475C>G	ENSP00000296135:p.Lys24Asn	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	60	16	NM_020347	0	0	0	0	0	B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179833	0.57800	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T;T	0.26067	1.76;1.76;1.76	5.49	-0.54	0.11861	.	0.086995	0.85682	D	0.000000	T	0.27832	0.0685	M	0.70595	2.14	0.80722	D	1	P	0.42785	0.79	B	0.42138	0.377	T	0.12400	-1.0549	10	0.54805	T	0.06	-25.5899	10.4369	0.44441	0.0:0.5432:0.0:0.4568	.	24	Q9NQ48	LZTL1_HUMAN	N	24;7;7	ENSP00000296135:K24N;ENSP00000439522:K7N;ENSP00000412240:K7N	ENSP00000296135:K24N	K	-	3	2	LZTFL1	45854479	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	0.681000	0.25320	-0.105000	0.12132	0.655000	0.94253	AAG	.		0.393	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		G	45879475	C	G	45879475	3	3	51	1	0	0	0	0	1	0	0	0	9172	912	32	3	863	3	LZTFL1	3	45879475	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	31659095	45879475	152142955	23	10563											
PTH1R	5745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	46943321	46943321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcgggagaccaacgcCggccggtgtgacacacggca	15	13	0	2	rs151330461	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:46943321C>A	ENST00000313049.5	+	11	1385	c.1182C>A	c.(1180-1182)gcC>gcA	p.A394A	PTH1R_ENST00000418619.1_Silent_p.A394A|PTH1R_ENST00000449590.1_Silent_p.A394A|PTH1R_ENST00000430002.2_Silent_p.A394A			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	394					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)	AGACCAACGCCGGCCGGTGTG	0.637																																					p.A394A		.											.	PTH1R-522	0			c.C1182A						.						54	55	55					3																	46943321		2203	4300	6503	SO:0001819	synonymous_variant	5745	exon12			CAACGCCGGCCGG		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.1182C>A	3.37:g.46943321C>A		Somatic	236	0		WXS	Illumina GAIIx	Phase_I	201	52	NM_001184744	0	0	0	0	0	Q2M1U3	Silent	SNP	ENST00000313049.5	37	CCDS2747.1																																																																																			C|1.000;T|0.000		0.637	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		A	46943321	C	A	46943321	2	1	51	1	0	0	0	0	0	0	0	1	12801	639	23	2		2	PTH1R	3	46943321	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	1063846	46943321	151079109	24	10564											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	51	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	75688575	122631896	75390534	25	10565											
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	154884739	154884739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttctttagtgcccagcagtCcaactcattgaactatgggg	9	11	2	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:154884739C>A	ENST00000460393.1	+	18	1829	c.1709C>A	c.(1708-1710)tCc>tAc	p.S570Y	MME_ENST00000492661.1_Missense_Mutation_p.S570Y|MME_ENST00000493237.1_Missense_Mutation_p.S570Y|MME_ENST00000360490.2_Missense_Mutation_p.S570Y|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.S570Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	570					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)	GCCCAGCAGTCCAACTCATTG	0.458																																					p.S570Y		.											.	MME-516	0			c.C1709A						.						142	136	138					3																	154884739		2203	4300	6503	SO:0001583	missense	4311	exon18			AGCAGTCCAACTC		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.1709C>A	3.37:g.154884739C>A	ENSP00000418525:p.Ser570Tyr	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	103	30	NM_007287	0	0	0	0	0	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522789	0.85600	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.254103	0.40818	N	0.001009	D	0.89729	0.6799	M	0.71296	2.17	0.42799	D	0.993922	D	0.53619	0.961	P	0.57620	0.824	D	0.90107	0.4189	10	0.87932	D	0	-1.8467	20.2789	0.98501	0.0:1.0:0.0:0.0	.	570	P08473	NEP_HUMAN	Y	570	ENSP00000420389:S570Y;ENSP00000418525:S570Y;ENSP00000419653:S570Y;ENSP00000417079:S570Y;ENSP00000353679:S570Y	ENSP00000353679:S570Y	S	+	2	0	MME	156367433	0.909000	0.30893	0.998000	0.56505	0.999000	0.98932	3.901000	0.56303	2.788000	0.95919	0.650000	0.86243	TCC	.		0.458	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154884739	C	A	154884739	3	1	51	1	0	0	0	0	1	0	0	0	9683	855	30	3	1775	3	MME	3	154884739	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	32252843	154884739	43137691	26	10566											
AHSG	197	bcgsc.ca	37	chr3	186338564	186338564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggcgcactacgacctgCgccacaccttcatgggtgtg	12	15	1	0	rs35457250	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr3:186338564C>T	ENST00000273784.5	+	7	1028	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	AHSG_ENST00000411641.2_Missense_Mutation_p.R317C	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	317					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTACGACCTGCGCCACACCTT	0.627													.|||	18	0.00359425	8e-04	0.0086	5008	,	,		19690	0		0.0099	False		,,,				2504	0.001				p.R317C		.											.	AHSG-90	0			c.C949T						.	C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	97	97	97		949	3.4	0.9	3	dbSNP_126	97	67,8533	39.8+/-96.3	0,67,4233	yes	missense	AHSG	NM_001622.2	180	0,70,6433	TT,TC,CC		0.7791,0.0681,0.5382	probably-damaging	317/368	186338564	70,12936	2203	4300	6503	SO:0001583	missense	197	exon7			GACCTGCGCCACA	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.952C>T	3.37:g.186338564C>T	ENSP00000273784:p.Arg318Cys	Somatic	172	2		WXS	Illumina GAIIx	Phase_I	168	6	NM_001622	0	0	0	0	0	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37		16	0.007326007326007326	0	0.0	5	0.013812154696132596	0	0.0	11	0.014511873350923483	c	13.99	2.402541	0.42613	6.81E-4	0.007791	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.08807	3.06;3.05	5.47	3.43	0.39272	.	0.476987	0.18976	N	0.126003	T	0.17916	0.0430	M	0.78456	2.415	0.39824	D	0.972881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.01401	-1.1364	10	0.87932	D	0	-16.2674	5.7642	0.18217	0.2338:0.6695:0.0:0.0967	rs35457250	383;317;318	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	C	317;383;318	ENSP00000393887:R317C;ENSP00000273784:R318C	ENSP00000273784:R318C	R	+	1	0	AHSG	187821258	0.437000	0.25593	0.850000	0.33497	0.046000	0.14306	1.353000	0.34045	1.452000	0.47756	0.563000	0.77884	CGC	C|0.993;T|0.007		0.627	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		T	186338564	C	T	186338564	3	4	51	1	0	0	0	0	1	0	0	0	420	768	27	1	975	1	AHSG	3	186338564	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	31453825	186338564	11683866	27	10567											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	62	10	NM_175918	0	0	3	6	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	51	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10		1388755	189765521	28	10568											
STIM2	57620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	26997088	26997088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaattttagagacaacaAtgtcaaaggaacgacacttc	8	7	1	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr4:26997088A>G	ENST00000467011.1	+	4	910	c.485A>G	c.(484-486)aAt>aGt	p.N162S	STIM2_ENST00000382009.3_Missense_Mutation_p.N249S|STIM2_ENST00000465503.1_Missense_Mutation_p.N162S|STIM2_ENST00000237364.5_Missense_Mutation_p.N249S|STIM2_ENST00000467087.1_Missense_Mutation_p.N162S|STIM2_ENST00000412829.2_Missense_Mutation_p.N249S	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	162	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGAGACAACAATGTCAAAGGA	0.388																																					p.N162S		.											.	STIM2-91	0			c.A485G						.						118	124	122					4																	26997088		2203	4300	6503	SO:0001583	missense	57620	exon4			ACAACAATGTCAA	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.485A>G	4.37:g.26997088A>G	ENSP00000419383:p.Asn162Ser	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	67	16	NM_001169118	0	0	3	3	0	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	9.876	1.200334	0.22121	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.64	4.64	0.57946	.	0.247628	0.41823	D	0.000810	T	0.75072	0.3800	N	0.25647	0.755	0.29458	N	0.857949	B;B;B	0.15473	0.013;0.013;0.011	B;B;B	0.18263	0.021;0.021;0.012	T	0.66015	-0.6028	10	0.27785	T	0.31	.	10.5285	0.44963	0.8377:0.1623:0.0:0.0	.	249;249;249	A6H8L7;E9PGD0;F5GXJ4	.;.;.	S	162;249;249;162;249;162	ENSP00000419073:N162S;ENSP00000371439:N249S;ENSP00000237364:N249S;ENSP00000419383:N162S;ENSP00000404812:N249S;ENSP00000417569:N162S	ENSP00000237364:N249S	N	+	2	0	STIM2	26606186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.148000	0.42235	1.851000	0.53745	0.482000	0.46254	AAT	.		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		G	26997088	A	G	26997088	3	3	51	1	0	0	0	0	1	0	0	0	15331	101	4	4	499	4	STIM2	4	26997088	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	25608333	26997088	164157188	29	10569											
DSPP	1834	bcgsc.ca	37	chr4	88536550	88536550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatagcagcaacagcagTgacagcagtgatagcagcaa	12	8	0	3	rs111215872|rs111456637	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr4:88536550T>C	ENST00000282478.7	+	4	2769	c.2736T>C	c.(2734-2736)agT>agC	p.S912S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S912S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	912	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S912S(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcaacagcagtgacagcagtg	0.488													T|||	1014	0.202476	0.1982	0.2637	5008	,	,		33910	0.1111		0.2972	False		,,,				2504	0.1616				p.S912S		.											.	DSPP-90	1	Substitution - coding silent(1)	stomach(1)	c.T2736C						.			276,2946		18,240,1353	65	93	83		2736	0.4	0.9	4	dbSNP_134	83	1274,4674		128,1018,1828	no	coding-synonymous	DSPP	NM_014208.3		146,1258,3181	CC,CT,TT		21.419,8.5661,16.9029		912/1302	88536550	1550,7620	1611	2974	4585	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGACAGC	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.2736T>C	4.37:g.88536550T>C		Somatic	560	5		WXS	Illumina GAIIx	Phase_I	564	17	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88536550	T	C	88536550	2	2	51	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88536550	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	61539462	88536550	102617726	30	10570											
FRG1	2483	bcgsc.ca	37	chr4	190874269	190874269	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtttacggctgtcaaattAtctgattccaggtgagctta	9	8	2	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr4:190874269A>T	ENST00000226798.4	+	4	528	c.306A>T	c.(304-306)ttA>ttT	p.L102F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	102					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)		CTGTCAAATTATCTGATTCCA	0.294																																					p.L102F		.											.	FRG1-90	0			c.A306T						.																																			SO:0001583	missense	2483	exon4			CAAATTATCTGAT	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.306A>T	4.37:g.190874269A>T	ENSP00000226798:p.Leu102Phe	Somatic	463	6		WXS	Illumina GAIIx	Phase_I	337	13	NM_004477	0	0	0	0	0	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.26	2.781529	0.49891	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.47869	1.92;0.83	3.71	-2.26	0.06867	Actin cross-linking (1);	0.140469	0.45361	D	0.000367	T	0.58793	0.2147	M	0.78916	2.43	0.52501	D	0.999953	D	0.63046	0.992	D	0.70487	0.969	T	0.56805	-0.7918	10	0.72032	D	0.01	-23.2027	4.8679	0.13618	0.3579:0.0:0.5038:0.1383	.	102	Q14331	FRG1_HUMAN	F	102;39	ENSP00000226798:L102F;ENSP00000435943:L39F	ENSP00000226798:L102F	L	+	3	2	FRG1	191111263	1.000000	0.71417	0.969000	0.41365	0.937000	0.57800	0.757000	0.26433	-0.634000	0.05538	-0.959000	0.02639	TTA	.		0.294	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		T	190874269	A	T	190874269	3	4	51	1	0	0	0	0	1	0	0	0	6070	446	16	5	320	5	FRG1	4	190874269	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	102337719	190874269	280007	31	10571											
SLCO6A1	133482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	101748695	101748695	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattataaaaaataattaccTttttttggttttgtgcttta	4	3	0	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr5:101748695T>G	ENST00000506729.1	-	9	1796	c.1625A>C	c.(1624-1626)aAg>aCg	p.K542T	SLCO6A1_ENST00000379810.1_Splice_Site_p.K289T|SLCO6A1_ENST00000513675.1_Splice_Site_p.K289T|SLCO6A1_ENST00000379807.3_Splice_Site_p.K542T|SLCO6A1_ENST00000389019.3_Splice_Site_p.K480T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	542	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.K542fs*13(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		aataatTACCTTTTTTTGGTT	0.234																																					p.K542T		.											.	SLCO6A1-96	1	Deletion - Frameshift(1)	large_intestine(1)	c.A1625C						.						10	10	10					5																	101748695		2105	4221	6326	SO:0001630	splice_region_variant	133482	exon9			ATTACCTTTTTTT	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1626+1A>C	5.37:g.101748695T>G		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	39	18	NM_173488	0	0	0	0	0	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851418	0.32699	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.17	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.284988	0.28712	N	0.014390	T	0.14485	0.0350	L	0.58510	1.815	0.38754	D	0.954185	D;P;D	0.89917	0.999;0.94;1.0	D;P;D	0.79784	0.982;0.897;0.993	T	0.02424	-1.1161	10	0.39692	T	0.17	.	8.682	0.34214	0.0:0.0886:0.0:0.9114	.	480;289;542	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	T	542;542;480;289;289	ENSP00000421339:K542T;ENSP00000369135:K542T;ENSP00000373671:K480T;ENSP00000421990:K289T;ENSP00000369138:K289T	ENSP00000369135:K542T	K	-	2	0	SLCO6A1	101776594	0.991000	0.36638	0.787000	0.31911	0.098000	0.18820	1.321000	0.33678	0.975000	0.38392	0.533000	0.62120	AAG	.		0.234	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	Missense_Mutation	G	101748695	T	G	101748695	5	3	51	1	0	0	0	0	0	0	1	0	14777	1623	56	5	554	5	SLCO6A1	5	101748695	Splice_Site	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10		101748695	79166565	32	10572											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	51	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	30400989	132149684	48765576	33	10573											
DOK3	79930	bcgsc.ca	37	chr5	176936590	176936590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacctggggagactgaTgacaggctggacgggaactc	15	9	1	4	rs2112181	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr5:176936590T>C	ENST00000357198.4	-	2	124	c.120A>G	c.(118-120)tcA>tcG	p.S40S	DOK3_ENST00000501403.2_5'UTR|DOK3_ENST00000377112.4_5'UTR|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	40					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGGAGACTGATGACAGGCTGG	0.632													T|||	734	0.146565	0.2466	0.098	5008	,	,		16457	0.1677		0.0517	False		,,,				2504	0.1217				p.S40S		.											.	DOK3-226	0			c.A120G						.	T	,,	793,3613	318.0+/-295.4	75,643,1485	69	74	72		,,120	0.7	0.6	5	dbSNP_96	72	465,8135	138.1+/-194.9	6,453,3841	no	intron,utr-5,coding-synonymous	DOK3	NM_001144875.1,NM_001144876.1,NM_024872.2	,,	81,1096,5326	CC,CT,TT		5.407,17.9982,9.6725	,,	,,40/497	176936590	1258,11748	2203	4300	6503	SO:0001819	synonymous_variant	79930	exon2			GACTGATGACAGG	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.120A>G	5.37:g.176936590T>C		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	101	5	NM_024872	0	0	0	0	0	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	CCDS4426.1																																																																																			T|0.892;C|0.108		0.632	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		C	176936590	T	C	176936590	2	2	51	1	0	0	0	0	0	0	0	1	4712	1451	51	4		4	DOK3	5	176936590	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	44786906	176936590	3978670	34	10574											
BPHL	670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	3118992	3118992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggtggctgtgctgggCggccggggcgtgttgcgcct	19	11	0	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr6:3118992C>T	ENST00000380379.5	+	1	67	c.18C>T	c.(16-18)ggC>ggT	p.G6G	BPHL_ENST00000434640.1_Intron|BPHL_ENST00000380368.2_5'UTR|BPHL_ENST00000380375.3_5'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	6					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)				CTGTGCTGGGCGGCCGGGGCG	0.721																																					p.G6G		.											.	BPHL-90	0			c.C18T						.						6	14	12					6																	3118992		642	1490	2132	SO:0001819	synonymous_variant	670	exon1			GCTGGGCGGCCGG	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.18C>T	6.37:g.3118992C>T		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	57	11	NM_004332	0	0	0	0	0	Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	CCDS4483.2																																																																																			.		0.721	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			T	3118992	C	T	3118992	2	4	51	1	0	0	0	0	0	0	0	1	1493	755	27	1		1	BPHL	6	3118992	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10		3118992	167996075	35	10575											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	65655687	65655687	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaaaaatatgttactcaccGatagcttttgtaaaggtcag	7	7	2	0	rs371032798		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr6:65655687G>A	ENST00000370621.3	-	15	2906	c.2380C>T	c.(2380-2382)Cga>Tga	p.R794*	EYS_ENST00000503581.1_Splice_Site_p.R794*|EYS_ENST00000370616.2_Splice_Site_p.R794*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	794	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTACTCACCGATAGCTTTTG	0.343																																					p.R794X		.											.	EYS-660	0			c.C2380T						.	G	stop/ARG	0,1384		0,0,692	260	230	239		2380	3.8	0.3	6		239	1,3181		0,1,1590	no	stop-gained-near-splice	EYS	NM_001142800.1		0,1,2282	AA,AG,GG		0.0314,0.0,0.0219		794/3145	65655687	1,4565	692	1591	2283	SO:0001630	splice_region_variant	346007	exon15			CTCACCGATAGCT		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.2381+1C>T	6.37:g.65655687G>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	91	24	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.103255	0.97286	0.0	3.14E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	4.7	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0343	0.42120	0.0963:0.0:0.9037:0.0	.	.	.	.	X	794	.	ENSP00000359650:R794X	R	-	1	2	EYS	65712408	0.003000	0.15002	0.324000	0.25361	0.172000	0.22775	0.475000	0.22164	0.980000	0.38523	0.561000	0.74099	CGA	.		0.343	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Nonsense_Mutation	A	65655687	G	A	65655687	5	1	51	1	0	0	0	0	0	0	1	0	5348	1072	37	1	7015	1	EYS	6	65655687	Splice_Site	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	62536695	65655687	105459380	36	10576											
SNX14	57231	broad.mit.edu	37	chr6	86227557	86227557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagactcacaagaattaaTgaaattcatgataaaaggtt	8	4	2	4			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr6:86227557T>C	ENST00000314673.3	-	23	2361	c.2185A>G	c.(2185-2187)Att>Gtt	p.I729V	SNX14_ENST00000346348.3_Missense_Mutation_p.I676V|SNX14_ENST00000505648.1_Missense_Mutation_p.I677V|SNX14_ENST00000369627.2_Missense_Mutation_p.I720V|SNX14_ENST00000513865.1_Missense_Mutation_p.I448V|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	729					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)		CAAGAATTAATGAAATTCATG	0.343																																					p.I729V		.											.	SNX14-226	0			c.A2185G						.						123	120	121					6																	86227557		2203	4300	6503	SO:0001583	missense	57231	exon23			AATTAATGAAATT	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.2185A>G	6.37:g.86227557T>C	ENSP00000313121:p.Ile729Val	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	54	3	NM_153816	0	0	3	3	0	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486542	0.44249	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.29142	2.0;1.99;1.58;1.99;1.99;1.99	4.97	4.97	0.65823	.	0.047656	0.85682	D	0.000000	T	0.12390	0.0301	L	0.29908	0.895	0.45634	D	0.998567	B;B;B;B	0.15141	0.007;0.012;0.004;0.007	B;B;B;B	0.16289	0.005;0.01;0.002;0.015	T	0.04229	-1.0967	10	0.31617	T	0.26	-16.6511	14.9504	0.71067	0.0:0.0:0.0:1.0	.	720;676;729;677	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	V	676;186;729;448;677;720;647;94	ENSP00000257769:I676V;ENSP00000313121:I729V;ENSP00000420938:I448V;ENSP00000427380:I677V;ENSP00000358641:I720V;ENSP00000425630:I647V	ENSP00000313121:I729V	I	-	1	0	SNX14	86284276	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.748000	0.62148	1.999000	0.58509	0.454000	0.30748	ATT	.		0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		C	86227557	T	C	86227557	3	2	51	1	0	0	0	0	1	0	0	0	14930	1464	51	4	683	4	SNX14	6	86227557	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	20571870	86227557	84887510	37	10577											
C6orf58	352999	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	127899852	127899852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagattagctgatccaacccGaaggacaaactgtggctatg	10	10	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr6:127899852G>A	ENST00000329722.7	+	2	335	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	C6orf58_ENST00000498112.1_3'UTR	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	108						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GATCCAACCCGAAGGACAAAC	0.423																																					p.R108Q		.											.	C6orf58-90	0			c.G323A						.						212	196	202					6																	127899852		2203	4299	6502	SO:0001583	missense	352999	exon2			CAACCCGAAGGAC	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.323G>A	6.37:g.127899852G>A	ENSP00000328069:p.Arg108Gln	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	153	51	NM_001010905	0	0	0	0	0	B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	G	1.160	-0.644016	0.03531	.	.	ENSG00000184530	ENST00000329722	T	0.44083	0.93	4.95	-1.57	0.08506	.	1.008770	0.07958	N	0.981926	T	0.04407	0.0121	N	0.02412	-0.56	0.09310	N	1	B	0.28233	0.204	B	0.19148	0.024	T	0.36286	-0.9754	10	0.11182	T	0.66	1.5261	9.1675	0.37060	0.6842:0.0:0.3158:0.0	.	108	Q6P5S2	CF058_HUMAN	Q	108	ENSP00000328069:R108Q	ENSP00000328069:R108Q	R	+	2	0	C6orf58	127941545	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.141000	0.16076	-0.364000	0.08088	0.591000	0.81541	CGA	.		0.423	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		A	127899852	G	A	127899852	3	1	51	1	0	0	0	0	1	0	0	0	2374	1058	37	1	329	1	C6orf58	6	127899852	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	41672295	127899852	43215215	38	10578											
FGFR1OP	11116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167436000	167436000	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccatgaaacaaaaattggatCttttctaagcaacagaactt	5	8	2	2	rs558048540	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr6:167436000C>G	ENST00000366847.4	+	8	914	c.683C>G	c.(682-684)tCt>tGt	p.S228C	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.S208C|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	228					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)		AAAATTGGATCTTTTCTAAGC	0.418			T	FGFR1	"MPD, NHL"																																p.S228C		.		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	FGFR1OP-683	0			c.C683G						.						94	90	92					6																	167436000		2203	4300	6503	SO:0001583	missense	11116	exon8			TTGGATCTTTTCT	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.683C>G	6.37:g.167436000C>G	ENSP00000355812:p.Ser228Cys	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	79	18	NM_007045	0	0	8	8	0	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	ENST00000366847.4	37	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724296	0.48728	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.35789	1.29;1.32	5.29	5.29	0.74685	.	0.507764	0.21392	N	0.075298	T	0.36496	0.0969	M	0.65975	2.015	0.09310	N	1	D;D;D	0.62365	0.989;0.991;0.984	P;P;P	0.55965	0.701;0.788;0.711	T	0.29731	-1.0002	10	0.62326	D	0.03	-5.3618	9.6836	0.40085	0.0:0.8421:0.0:0.1579	.	181;208;228	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	C	228;181;208	ENSP00000355812:S228C;ENSP00000230248:S208C	ENSP00000230248:S208C	S	+	2	0	FGFR1OP	167355990	0.584000	0.26766	0.008000	0.14137	0.901000	0.52897	1.503000	0.35715	2.467000	0.83353	0.544000	0.68410	TCT	.		0.418	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		G	167436000	C	G	167436000	3	3	51	1	0	0	0	0	1	0	0	0	5886	913	32	3	713	3	FGFR1OP	6	167436000	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	39536148	167436000	3679067	39	10579											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372406	5372406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaagatgcgctcgctGcggcgccgcgtccacaggtc	15	14	0	1	rs13238738	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							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)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2	3	3		5994	2.1	1	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	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.5994C>A	7.37:g.5372406G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372406	G	T	5372406	2	4	51	1	0	0	0	0	0	0	0	1	16386	1306	46	3		3	TNRC18	7	5372406	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		5372406	153766257	40	10580											
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	18705997	18705997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggatgacacactgggAcaagttggggctgtgaaggt	17	5	0	2	rs370270521		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr7:18705997A>G	ENST00000432645.2	+	11	1620	c.1620A>G	c.(1618-1620)ggA>ggG	p.G540G	HDAC9_ENST00000406072.1_Silent_p.G527G|HDAC9_ENST00000456174.2_Silent_p.G512G|HDAC9_ENST00000441542.2_Silent_p.G543G|HDAC9_ENST00000405010.3_Silent_p.G540G|HDAC9_ENST00000417496.2_Silent_p.G538G|HDAC9_ENST00000428307.2_Silent_p.G496G|HDAC9_ENST00000401921.1_Silent_p.G499G|HDAC9_ENST00000406451.4_Silent_p.G540G|HDAC9_ENST00000524023.1_Silent_p.G463G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	540					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)	ACACACTGGGACAAGTTGGGG	0.547											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G543G		.											.	HDAC9-227	0			c.A1629G						.	A	,,,,,,,,	1,4113		0,1,2056	81	96	91		1614,1488,1497,1389,1536,1620,1620,1620,1629	4.4	1	7		91	0,8384		0,0,4192	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	,,,,,,,,	0,1,6248	GG,GA,AA		0.0,0.0243,0.0080	,,,,,,,,	538/589,496/547,499/550,463/514,512/563,540/591,540/1012,540/1067,543/1070	18705997	1,12497	2057	4192	6249	SO:0001819	synonymous_variant	9734	exon11			ACTGGGACAAGTT	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.1620A>G	7.37:g.18705997A>G		Somatic	171	0	727	WXS	Illumina GAIIx	Phase_I	185	38	NM_178425	0	0	0	0	0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																			.		0.547	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			G	18705997	A	G	18705997	2	3	51	1	0	0	0	0	0	0	0	1	7041	262	10	4		4	HDAC9	7	18705997	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	13333591	18705997	140432666	41	10581											
OR2F1	26211	bcgsc.ca	37	chr7	143657801	143657801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgcctctcacctcacAgtggttgccctgtgctatgg	11	13	2	0	rs2072166	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr7:143657801A>G	ENST00000392899.1	+	1	775	c.738A>G	c.(736-738)acA>acG	p.T246T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	246					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTCACCTCACAGTGGTTGCCC	0.488													a|||	2291	0.457468	0.6687	0.415	5008	,	,		22020	0.5744		0.3231	False		,,,				2504	0.2198				p.T246T		.											.	OR2F1-71	0			c.A738G						.	G		2672,1734	519.3+/-369.9	816,1040,347	158	130	140		738	-11.1	0	7	dbSNP_96	140	2839,5761	675.2+/-403.2	481,1877,1942	no	coding-synonymous	OR2F1	NM_012369.2		1297,2917,2289	GG,GA,AA		33.0116,39.3554,42.3728		246/318	143657801	5511,7495	2203	4300	6503	SO:0001819	synonymous_variant	26211	exon1			CCTCACAGTGGTT	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.738A>G	7.37:g.143657801A>G		Somatic	225	2		WXS	Illumina GAIIx	Phase_I	143	5	NM_012369	0	0	0	0	0	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	CCDS5887.1																																																																																			A|0.568;G|0.432		0.488	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			G	143657801	A	G	143657801	2	3	51	1	0	0	0	0	0	0	0	1	11035	175	7	4		4	OR2F1	7	143657801	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	124951804	143657801	15480862	42	10582											
PCM1	5108	ucsc.edu;bcgsc.ca	37	chr8	17817553	17817553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcaaggagttatctctGccagtgcatcaaatttggat	9	9	3	0	rs17635381	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr8:17817553G>T	ENST00000519253.1	+	14	2322	c.2071G>T	c.(2071-2073)Gcc>Tcc	p.A691S	PCM1_ENST00000325083.8_Missense_Mutation_p.A691S|PCM1_ENST00000524226.1_Missense_Mutation_p.A692S			Q15154	PCM1_HUMAN	pericentriolar material 1	691			A -> S (in dbSNP:rs17635381).		centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTTATCTCTGCCAGTGCATC	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								G|||	723	0.144369	0.0227	0.1268	5008	,	,		17835	0.3661		0.1272	False		,,,				2504	0.1104				p.A691S		.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	.	PCM1-742	0			c.G2071T						.	G	SER/ALA	128,3638		5,118,1760	73	68	70		2071	5.2	1	8	dbSNP_123	70	1192,7040		77,1038,3001	yes	missense	PCM1	NM_006197.3	99	82,1156,4761	TT,TG,GG		14.4801,3.3988,11.0018	probably-damaging	691/2025	17817553	1320,10678	1883	4116	5999	SO:0001583	missense	5108	exon14			ATCTCTGCCAGTG		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2071G>T	8.37:g.17817553G>T	ENSP00000431099:p.Ala691Ser	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	108	25	NM_006197	0	0	1	1	0	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		379	0.17353479853479853	13	0.026422764227642278	48	0.13259668508287292	214	0.3741258741258741	104	0.13720316622691292	G	12.27	1.886862	0.33348	0.033988	0.144801	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.28454	3.5;2.55;1.61;1.61	5.17	5.17	0.71159	.	0.268940	0.35903	N	0.002912	T	0.00012	0.0000	L	0.44542	1.39	0.09310	P	1.0	B;B;P;B	0.40534	0.144;0.044;0.72;0.031	B;B;B;B	0.43536	0.082;0.082;0.423;0.017	T	0.50591	-0.8810	9	0.25106	T	0.35	-0.1599	16.7078	0.85377	0.0:0.0:1.0:0.0	rs17635381;rs17635381	691;730;692;691	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	S	691;730;691;692	ENSP00000327077:A691S;ENSP00000428131:A730S;ENSP00000431099:A691S;ENSP00000430521:A692S	ENSP00000327077:A691S	A	+	1	0	PCM1	17861833	1.000000	0.71417	0.992000	0.48379	0.161000	0.22273	3.715000	0.54897	2.791000	0.96007	0.637000	0.83480	GCC	G|0.834;N|0.000		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		T	17817553	G	T	17817553	3	4	51	1	0	0	0	0	1	0	0	0	11623	1319	46	3	2117	3	PCM1	8	17817553	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		17817553	128546469	43	10583											
ZFAT	57623	broad.mit.edu;bcgsc.ca	37	chr8	135615137	135615137	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttgaagaccttgttgcaGtattcacaagtgaagatttt	8	6	1	4			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr8:135615137G>T	ENST00000377838.3	-	6	999	c.825C>A	c.(823-825)taC>taA	p.Y275*	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.Y263*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.Y213*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.Y263*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.Y263*|ZFAT_ENST00000520727.1_Nonsense_Mutation_p.Y263*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	275					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCTTGTTGCAGTATTCACAAG	0.488																																					p.Y275X		.											.	ZFAT-90	0			c.C825A						.						98	99	98					8																	135615137		1989	4166	6155	SO:0001587	stop_gained	57623	exon6			GTTGCAGTATTCA	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.825C>A	8.37:g.135615137G>T	ENSP00000367069:p.Tyr275*	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	311	13	NM_020863	0	0	0	0	0	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660973	0.96734	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	.	.	.	5.83	4.96	0.65561	.	0.068180	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-34.0497	13.8359	0.63408	0.0727:0.0:0.9273:0.0	.	.	.	.	X	263;263;263;275;263;263;213;263	.	ENSP00000326997:Y263X	Y	-	3	2	ZFAT	135684319	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.163000	0.58183	1.477000	0.48234	0.563000	0.77884	TAC	.		0.488	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135615137	G	T	135615137	4	4	51	1	0	0	0	0	0	1	0	0	17680	1024	36	3	2950	3	ZFAT	8	135615137	Nonsense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	117797584	135615137	10748885	44	10584											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000527096.1_Silent_p.L1207L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	29	10	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	51	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	9386647	145001784	1362238	45	10585											
FAM75C1	441452	hgsc.bcm.edu	37	chr9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA													catcttgtctcccagcgtcaINStcttgtctcccagtgtccaa					rs567658963|rs536300617	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		Somatic	400	0		WXS	Illumina GAIIx	Phase_I	357	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		TCTTGTCTCCCAGCGTCA	90534193	-	TCTTGTCTCCCAGCGTCA	90534192	6	5	51	0	1	1	1	0	0	0	0	0	5645	217	8	0		0	FAM75C1	9	90534192	RNA	INS	-	TCGA-OR-A5LD-01A-11D-A29I-10		90534192	50679239	46	10586											
TTC16	158248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	130492920	130492920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacccccttcctagtcaggAccacaggcacctcagagact	8	17	2	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:130492920A>G	ENST00000373289.3	+	14	1938	c.1858A>G	c.(1858-1860)Acc>Gcc	p.T620A	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	620										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCTAGTCAGGACCACAGGCAC	0.587																																					p.T620A		.											.	TTC16-90	0			c.A1858G						.						45	37	39					9																	130492920		2203	4300	6503	SO:0001583	missense	158248	exon14			GTCAGGACCACAG	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1858A>G	9.37:g.130492920A>G	ENSP00000362386:p.Thr620Ala	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	67	23	NM_144965	0	0	0	0	0	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894203	0.33442	.	.	ENSG00000167094	ENST00000373289	T	0.19105	2.17	4.37	2.06	0.26882	.	1.020380	0.07839	N	0.962676	T	0.14830	0.0358	L	0.32530	0.975	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.17979	0.01;0.02	T	0.34700	-0.9818	10	0.27082	T	0.32	-13.0131	4.8113	0.13345	0.693:0.0:0.307:0.0	.	607;620	B4DZ42;Q8NEE8	.;TTC16_HUMAN	A	620	ENSP00000362386:T620A	ENSP00000362386:T620A	T	+	1	0	TTC16	129532741	0.059000	0.20769	0.048000	0.18961	0.209000	0.24338	0.875000	0.28079	0.465000	0.27167	0.459000	0.35465	ACC	.		0.587	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		G	130492920	A	G	130492920	3	3	51	1	0	0	0	0	1	0	0	0	16732	275	10	4	1912	4	TTC16	9	130492920	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	39958728	130492920	10720511	47	10587											
TTC16	158248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	130493619	130493619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggccgagtccacctggGgacccagcccaagtctcagc	12	16	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:130493619G>A	ENST00000373289.3	+	14	2637	c.2557G>A	c.(2557-2559)Gga>Aga	p.G853R	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	853										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTCCACCTGGGGACCCAGCCC	0.602																																					p.G853R		.											.	TTC16-90	0			c.G2557A						.						60	65	63					9																	130493619		2203	4300	6503	SO:0001583	missense	158248	exon14			ACCTGGGGACCCA	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2557G>A	9.37:g.130493619G>A	ENSP00000362386:p.Gly853Arg	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	215	19	NM_144965	0	0	0	0	0	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090217	0.55968	.	.	ENSG00000167094	ENST00000373289	T	0.36878	1.23	4.52	0.612	0.17591	.	1.235280	0.05711	N	0.596010	T	0.31702	0.0805	L	0.56769	1.78	0.09310	N	1	B;B	0.30033	0.266;0.266	B;B	0.27170	0.077;0.077	T	0.27706	-1.0066	10	0.42905	T	0.14	-0.5014	3.4904	0.07636	0.286:0.0:0.5376:0.1764	.	840;853	B4DZ42;Q8NEE8	.;TTC16_HUMAN	R	853	ENSP00000362386:G853R	ENSP00000362386:G853R	G	+	1	0	TTC16	129533440	0.003000	0.15002	0.000000	0.03702	0.436000	0.31835	0.144000	0.16135	0.114000	0.18032	0.462000	0.41574	GGA	.		0.602	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		A	130493619	G	A	130493619	3	1	51	1	0	0	0	0	1	0	0	0	16732	1233	43	3	2611	3	TTC16	9	130493619	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	699	130493619	10719812	48	10588											
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	51	1	0	0	0	0	1	0	0	0	17337	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	925209	131418828	9794603	49	10589											
SLC2A6	11182	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	136339193	136339193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacggccccaacgatggcTgcgtcgtccttggggggcta	15	14	0	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:136339193T>C	ENST00000371899.4	-	7	1022	c.945A>G	c.(943-945)gcA>gcG	p.A315A	SLC2A6_ENST00000371897.4_Silent_p.A315A|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	315					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CAACGATGGCTGCGTCGTCCT	0.677																																					p.A315A		.											.	SLC2A6-90	0			c.A945G						.						24	22	23					9																	136339193		2196	4293	6489	SO:0001819	synonymous_variant	11182	exon7			GATGGCTGCGTCG	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.945A>G	9.37:g.136339193T>C		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	112	7	NM_017585	0	0	0	0	0	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	CCDS6975.1																																																																																			.		0.677	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		C	136339193	T	C	136339193	2	2	51	1	0	0	0	0	0	0	0	1	14594	1567	55	4		4	SLC2A6	9	136339193	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	4920365	136339193	4874238	50	10590											
TPRN	286262	hgsc.bcm.edu;bcgsc.ca	37	chr9	140086594	140086594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggctggctcgctgcggaaGtccgagaggtcattctgact	15	10	2	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr9:140086594G>T	ENST00000409012.4	-	4	2192	c.2106C>A	c.(2104-2106)gaC>gaA	p.D702E	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.D669E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	702					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CGCTGCGGAAGTCCGAGAGGT	0.632																																					p.D702E		.											.	TPRN-90	0			c.C2106A						.						55	62	60					9																	140086594		2203	4300	6503	SO:0001583	missense	286262	exon4			GCGGAAGTCCGAG	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.2106C>A	9.37:g.140086594G>T	ENSP00000387100:p.Asp702Glu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	55	4	NM_001128228	0	0	9	9	0	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186144	0.78789	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	L	0.36672	1.1	0.53688	D	0.999979	D	0.76494	0.999	D	0.83275	0.996	T	0.69851	-0.5033	9	0.87932	D	0	-29.4474	13.2896	0.60264	0.0:0.0:1.0:0.0	.	702	Q4KMQ1	TPRN_HUMAN	E	528;702;669	.	ENSP00000313704:D669E	D	-	3	2	TPRN	139206415	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.091000	0.64505	2.213000	0.71641	0.462000	0.41574	GAC	.		0.632	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		T	140086594	G	T	140086594	3	4	51	1	0	0	0	0	1	0	0	0	16469	1020	36	3	33	3	TPRN	9	140086594	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	3747401	140086594	1126837	51	10591											
TACC2	10579	broad.mit.edu;bcgsc.ca	37	chr10	123842918	123842918	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcctcagtatttaacAgatgacttggaattcctcag	9	11	2	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr10:123842918A>T	ENST00000369005.1	+	4	1243	c.903A>T	c.(901-903)acA>acT	p.T301T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.T301T|TACC2_ENST00000334433.3_Silent_p.T301T|TACC2_ENST00000453444.2_Silent_p.T301T|TACC2_ENST00000515603.1_Silent_p.T301T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	301					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)				AGTATTTAACAGATGACTTGG	0.587																																					p.T301T		.											.	TACC2-296	0			c.A903T						.						48	58	55					10																	123842918		2203	4300	6503	SO:0001819	synonymous_variant	10579	exon4			TTTAACAGATGAC	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.903A>T	10.37:g.123842918A>T		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	184	11	NM_206862	0	0	0	0	0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																			.		0.587	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123842918	A	T	123842918	2	4	51	1	0	0	0	0	0	0	0	1	15549	175	7	5		5	TACC2	10	123842918	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10		123842918	11691829	52	10592											
KNDC1	85442	hgsc.bcm.edu;broad.mit.edu	37	chr10	135015372	135015372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctggggcggcagcaggcGgacggggccctgcccgacgc	19	15	0	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr10:135015372G>T	ENST00000304613.3	+	17	3378	c.3357G>T	c.(3355-3357)gcG>gcT	p.A1119A	KNDC1_ENST00000368572.2_Silent_p.A1121A|KNDC1_ENST00000368571.2_Silent_p.A1054A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1119					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCAGCAGGCGGACGGGGCCC	0.706																																					p.A1119A		.											.	KNDC1-229	0			c.G3357T						.																																			SO:0001819	synonymous_variant	85442	exon17			GCAGGCGGACGGG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3357G>T	10.37:g.135015372G>T		Somatic	23	0		WXS	Illumina GAIIx	Phase_I	69	5	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			.		0.706	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135015372	G	T	135015372	2	4	51	1	0	0	0	0	0	0	0	1	8453	1103	39	2		2	KNDC1	10	135015372	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	11172454	135015372	519375	53	10593											
OR52I2	143502	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	4608887	4608887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggttatggctttgtactAtctacctgggatggcatcca	13	8	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:4608887A>C	ENST00000312614.4	+	1	867	c.845A>C	c.(844-846)tAt>tCt	p.Y282S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTGTACTATCTACCTGGG	0.502																																					p.Y282S		.											.	OR52I2-91	0			c.A845C						.						157	150	152					11																	4608887		2201	4296	6497	SO:0001583	missense	143502	exon1			TGTACTATCTACC	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.845A>C	11.37:g.4608887A>C	ENSP00000308764:p.Tyr282Ser	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	222	50	NM_001005170	0	0	0	0	0	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700362	0.48307	.	.	ENSG00000226288	ENST00000312614	T	0.71817	-0.6	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001062	D	0.84911	0.5577	M	0.89414	3.03	0.41401	D	0.987673	D	0.76494	0.999	D	0.74674	0.984	D	0.87946	0.2720	10	0.87932	D	0	-8.1829	12.307	0.54908	1.0:0.0:0.0:0.0	.	282	Q8NH67	O52I2_HUMAN	S	282	ENSP00000308764:Y282S	ENSP00000308764:Y282S	Y	+	2	0	OR52I2	4565463	0.077000	0.21312	0.927000	0.36925	0.925000	0.55904	1.083000	0.30815	1.773000	0.52216	0.524000	0.50904	TAT	.		0.502	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		C	4608887	A	C	4608887	3	2	51	1	0	0	0	0	1	0	0	0	11160	449	16	5	847	5	OR52I2	11	4608887	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10		4608887	130397629	54	10594											
NLRP10	338322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	7982583	7982583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgggtacagagtaccGgtggcccagtccaacaccat	12	14	0	1	rs138681119	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:7982583G>A	ENST00000328600.2	-	2	737	c.576C>T	c.(574-576)acC>acT	p.T192T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	192	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAGTACCGGTGGCCCAGT	0.532																																					p.T192T		.											.	NLRP10-209	0			c.C576T						.	G		1,4401	2.1+/-5.4	0,1,2200	54	57	56		576	-10.5	0	11	dbSNP_134	56	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	NLRP10	NM_176821.3		0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154		192/656	7982583	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	338322	exon2			AGTACCGGTGGCC	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.576C>T	11.37:g.7982583G>A		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	140	25	NM_176821	0	0	0	0	0	Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	CCDS7784.1																																																																																			G|1.000;A|0.000		0.532	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		A	7982583	G	A	7982583	2	1	51	1	0	0	0	0	0	0	0	1	10511	1103	39	1		1	NLRP10	11	7982583	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	3373696	7982583	127023933	55	10595											
CAPRIN1	4076	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	34097794	34097795	+	Frame_Shift_Del	DEL	AA	AA	-													gttttgcagattcagaaaacAataaagaagacagcacgtcg							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	AA	AA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:34097794_34097795delAA	ENST00000341394.4	+	5	567_568	c.378_379delAA	c.(376-381)acaatafs	p.I127fs	CAPRIN1_ENST00000532820.1_Frame_Shift_Del_p.I127fs|CAPRIN1_ENST00000529307.1_Frame_Shift_Del_p.I46fs|CAPRIN1_ENST00000389645.3_Frame_Shift_Del_p.I127fs|CAPRIN1_ENST00000530820.1_Frame_Shift_Del_p.I127fs	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	127					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)				TTCAGAAAACAATAAAGAAGAC	0.332																																					p.126_127del		.											.	CAPRIN1-91	0			c.378_379del						.																																			SO:0001589	frameshift_variant	4076	exon5			GAAAACAATAAAG	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.378_379delAA	11.37:g.34097794_34097795delAA	ENSP00000340329:p.Ile127fs	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	50	13	NM_203364	0	0	0	0	0	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Frame_Shift_Del	DEL	ENST00000341394.4	37	CCDS31453.1																																																																																			.		0.332	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		-	34097795	AA	-	34097794	7	5	51	1	0	1	0	1	0	0	0	0	2642	117	5	0	392	0	CAPRIN1	11	34097794	Frame_Shift_Del	DEL	AA	TCGA-OR-A5LD-01A-11D-A29I-10	26115211	34097794	100908722	56	10596											
DGKZ	8525	broad.mit.edu;bcgsc.ca	37	chr11	46389253	46389253	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgagaccaacgtgtccgggGacttctgctacgttggggag	15	10	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:46389253G>C	ENST00000454345.1	+	4	1014	c.889G>C	c.(889-891)Gac>Cac	p.D297H	DGKZ_ENST00000421244.2_Missense_Mutation_p.D108H|DGKZ_ENST00000456247.2_Missense_Mutation_p.D108H|DGKZ_ENST00000527911.1_Missense_Mutation_p.D108H|DGKZ_ENST00000343674.6_Missense_Mutation_p.D125H|DGKZ_ENST00000532868.2_Missense_Mutation_p.D112H|DGKZ_ENST00000395574.3_Missense_Mutation_p.D74H|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.D108H|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	297					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGTGTCCGGGGACTTCTGCTA	0.652											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D297H		.											.	DGKZ-676	0			c.G889C						.						126	102	110					11																	46389253		2202	4297	6499	SO:0001583	missense	8525	exon4			TCCGGGGACTTCT	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.889G>C	11.37:g.46389253G>C	ENSP00000412178:p.Asp297His	Somatic	118	2	938	WXS	Illumina GAIIx	Phase_I	143	8	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247900	0.95305	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83992	-1.79;2.47;2.51;3.47;-1.79;2.36;2.47;1.7;2.63	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.101272	0.64402	D	0.000001	D	0.91168	0.7218	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;0.99;1.0;0.994;0.994;1.0;1.0;0.996	P;D;D;D;D;D;D;D;D;D	0.97110	0.895;0.982;0.987;0.921;0.99;0.951;0.964;0.982;1.0;0.928	D	0.91954	0.5573	10	0.87932	D	0	.	19.0817	0.93185	0.0:0.0:1.0:0.0	.	108;73;74;108;297;108;108;74;74;125	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	H	125;74;73;108;108;108;108;297;18	ENSP00000343065:D125H;ENSP00000378941:D74H;ENSP00000436273:D73H;ENSP00000436291:D108H;ENSP00000395684:D108H;ENSP00000391021:D108H;ENSP00000320340:D108H;ENSP00000412178:D297H;ENSP00000435763:D18H	ENSP00000320340:D108H	D	+	1	0	DGKZ	46345829	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.713000	0.98740	2.588000	0.87417	0.555000	0.69702	GAC	.		0.652	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		C	46389253	G	C	46389253	3	2	51	1	0	0	0	0	1	0	0	0	4488	1174	41	3	1343	3	DGKZ	11	46389253	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	12291459	46389253	88617263	57	10597											
CDC42BPG	55561	bcgsc.ca	37	chr11	64601933	64601933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggcctcctgcacctgTgtcagccgctcctgcaggcc	12	17	1	0	rs7933683	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:64601933T>C	ENST00000342711.5	-	19	2291	c.2292A>G	c.(2290-2292)acA>acG	p.T764T	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						CCTGCACCTGTGTCAGCCGCT	0.706													C|||	1376	0.27476	0.0424	0.2147	5008	,	,		15170	0.4921		0.2575	False		,,,				2504	0.4254				p.T764T		.											.	CDC42BPG-528	0			c.A2292G						.	C		284,3850		12,260,1795	6	7	6		2292	-6.1	0.8	11	dbSNP_116	6	1681,6531		171,1339,2596	no	coding-synonymous	CDC42BPG	NM_017525.2		183,1599,4391	CC,CT,TT		20.47,6.8699,15.9161		764/1552	64601933	1965,10381	2067	4106	6173	SO:0001819	synonymous_variant	55561	exon19			CACCTGTGTCAGC	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.2292A>G	11.37:g.64601933T>C		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	67	4	NM_017525	0	0	0	0	0		Silent	SNP	ENST00000342711.5	37	CCDS31601.1																																																																																			T|0.722;C|0.278		0.706	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		C	64601933	T	C	64601933	2	2	51	1	0	0	0	0	0	0	0	1	3081	1683	59	4		4	CDC42BPG	11	64601933	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	18212680	64601933	70404583	58	10598											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Silent_p.P52P|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	51	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	278157	64880090	70126426	59	10599											
FRMD8	83786	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	65167232	65167232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttcttccacggtgaggttGacaagccggcccaaggcttt	11	13	1	2	rs139960411	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:65167232G>A	ENST00000317568.5	+	8	992	c.829G>A	c.(829-831)Gac>Aac	p.D277N	FRMD8_ENST00000416776.2_Missense_Mutation_p.D243N|FRMD8_ENST00000355991.5_Missense_Mutation_p.D221N	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	277	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGTGAGGTTGACAAGCCGGC	0.627																																					p.D277N		.											.	FRMD8-227	0			c.G829A						.						62	62	62					11																	65167232		2201	4297	6498	SO:0001583	missense	83786	exon8			GAGGTTGACAAGC	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.829G>A	11.37:g.65167232G>A	ENSP00000319726:p.Asp277Asn	Somatic	87	3		WXS	Illumina GAIIx	Phase_I	323	42	NM_031904	0	0	3	3	0	B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324367	0.95708	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83250	-1.69;-1.11;-1.7	4.57	4.57	0.56435	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.994	D	0.90533	0.4497	10	0.54805	T	0.06	-6.255	15.1924	0.73057	0.0:0.0:1.0:0.0	.	243;221;277	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	N	277;221;243	ENSP00000319726:D277N;ENSP00000348270:D221N;ENSP00000392111:D243N	ENSP00000319726:D277N	D	+	1	0	FRMD8	64923808	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	8.572000	0.90756	2.262000	0.75019	0.561000	0.74099	GAC	G|0.999;C|0.001		0.627	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		A	65167232	G	A	65167232	3	1	51	1	0	0	0	0	1	0	0	0	6080	1290	45	3	855	3	FRMD8	11	65167232	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	287142	65167232	69839284	60	10600											
FRMD8	83786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65167323	65167323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgtgcacgtcatcgatagcaGagagaaggtactgcccccag	12	12	1	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:65167323G>C	ENST00000317568.5	+	8	1083	c.920G>C	c.(919-921)aGa>aCa	p.R307T	FRMD8_ENST00000416776.2_Missense_Mutation_p.R273T|FRMD8_ENST00000355991.5_Missense_Mutation_p.R251T	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	307	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ATCGATAGCAGAGAGAAGGTA	0.637																																					p.R307T		.											.	FRMD8-227	0			c.G920C						.						88	90	89					11																	65167323		2201	4297	6498	SO:0001583	missense	83786	exon8			ATAGCAGAGAGAA	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.920G>C	11.37:g.65167323G>C	ENSP00000319726:p.Arg307Thr	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	247	40	NM_031904	0	0	0	0	0	B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322302	0.41096	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.82526	-1.61;-1.03;-1.62	4.57	3.38	0.38709	FERM domain (1);	0.170421	0.49305	D	0.000158	T	0.63710	0.2534	N	0.24115	0.695	0.37506	D	0.916955	P;B;B	0.38922	0.651;0.43;0.421	B;B;B	0.35114	0.15;0.196;0.107	T	0.61973	-0.6952	10	0.12103	T	0.63	-23.6714	4.6596	0.12636	0.2818:0.0:0.7182:0.0	.	273;251;307	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	T	307;251;273	ENSP00000319726:R307T;ENSP00000348270:R251T;ENSP00000392111:R273T	ENSP00000319726:R307T	R	+	2	0	FRMD8	64923899	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.283000	0.65621	2.262000	0.75019	0.561000	0.74099	AGA	.		0.637	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		C	65167323	G	C	65167323	3	2	51	1	0	0	0	0	1	0	0	0	6080	942	33	3	946	3	FRMD8	11	65167323	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	91	65167323	69839193	61	10601											
TRPC6	7225	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	101375498	101375498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacggagaactgtctgccGccggtgagccagtctgttgt	13	12	3	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:101375498G>A	ENST00000344327.3	-	2	626	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	TRPC6_ENST00000348423.4_Missense_Mutation_p.R68W|TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Missense_Mutation_p.R68W|TRPC6_ENST00000360497.4_Missense_Mutation_p.R68W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	68					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)		ACTGTCTGCCGCCGGTGAGCC	0.468																																					p.R68W	Colon(166;1315 1927 11094 12848 34731)	.											.	TRPC6-93	0			c.C202T						.						68	75	72					11																	101375498		2203	4299	6502	SO:0001583	missense	7225	exon2			TCTGCCGCCGGTG	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.202C>T	11.37:g.101375498G>A	ENSP00000340913:p.Arg68Trp	Somatic	151	1		WXS	Illumina GAIIx	Phase_I	150	25	NM_004621	0	0	0	0	0	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182572	0.78677	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.80653	-1.22;-1.28;-1.14;-1.4	5.6	5.6	0.85130	.	0.328713	0.32901	N	0.005513	D	0.87489	0.6190	L	0.47190	1.495	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.79784	0.96;0.993;0.87	D	0.88101	0.2819	10	0.87932	D	0	-12.0751	19.6251	0.95674	0.0:0.0:1.0:0.0	.	68;68;68	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	W	68	ENSP00000340913:R68W;ENSP00000435574:R68W;ENSP00000343672:R68W;ENSP00000353687:R68W	ENSP00000340913:R68W	R	-	1	2	TRPC6	100880708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.437000	0.52863	2.636000	0.89361	0.655000	0.94253	CGG	.		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		A	101375498	G	A	101375498	3	1	51	1	0	0	0	0	1	0	0	0	16631	1086	38	1	2641	1	TRPC6	11	101375498	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	36208175	101375498	33631018	62	10602											
ESAM	90952	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124631990	124631990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcactcaccgagggcacTcagccccaggaacaaaaacc	8	15	3	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:124631990T>C	ENST00000278927.5	-	1	190	c.61A>G	c.(61-63)Agt>Ggt	p.S21G	ESAM_ENST00000442070.2_Missense_Mutation_p.S21G|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	21					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCGAGGGCACTCAGCCCCAGG	0.657																																					p.S21G		.											.	ESAM-90	0			c.A61G						.						38	40	40					11																	124631990		2201	4299	6500	SO:0001583	missense	90952	exon1			GGGCACTCAGCCC	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.61A>G	11.37:g.124631990T>C	ENSP00000278927:p.Ser21Gly	Somatic	155	1		WXS	Illumina GAIIx	Phase_I	166	49	NM_138961	0	0	0	0	0	B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454463	0.43634	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.72282	1.12;1.12;1.47;-0.64	4.41	3.27	0.37495	.	0.920038	0.09495	N	0.794455	T	0.59142	0.2172	L	0.39898	1.24	0.19300	N	0.999971	B;B;B	0.15930	0.015;0.015;0.005	B;B;B	0.14578	0.011;0.011;0.003	T	0.45338	-0.9268	10	0.25751	T	0.34	.	6.6513	0.22963	0.0:0.1089:0.0:0.8911	.	21;21;21	B4DVN8;F8WDW9;Q96AP7	.;.;ESAM_HUMAN	G	21	ENSP00000410351:S21G;ENSP00000406689:S21G;ENSP00000278927:S21G;ENSP00000415893:S21G	ENSP00000278927:S21G	S	-	1	0	ESAM	124137200	0.990000	0.36364	0.948000	0.38648	0.679000	0.39708	2.048000	0.41278	0.833000	0.34828	0.459000	0.35465	AGT	.		0.657	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		C	124631990	T	C	124631990	3	2	51	1	0	0	0	0	1	0	0	0	5263	1551	54	4	1139	4	ESAM	11	124631990	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	23256492	124631990	10374526	63	10603											
GLB1L2	89944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	134240910	134240910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtacgcagccaatcaaGtctgaaaagcccatcaacat	6	12	4	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr11:134240910G>C	ENST00000535456.2	+	13	1412	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	GLB1L2_ENST00000389881.3_Missense_Mutation_p.K408N|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.K408N	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	408					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGCCAATCAAGTCTGAAAAGC	0.567																																					p.K408N		.											.	GLB1L2-25	0			c.G1224C						.						127	129	128					11																	134240910		2201	4297	6498	SO:0001583	missense	89944	exon13			AATCAAGTCTGAA		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1224G>C	11.37:g.134240910G>C	ENSP00000444628:p.Lys408Asn	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	97	18	NM_138342	0	0	0	0	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.41|10.41	1.343297|1.343297	0.24339|0.24339	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.93811|.	-3.29;-3.29;-3.29|.	5.77|5.77	-3.62|-3.62	0.04543|0.04543	.|.	0.765819|.	0.12913|.	N|.	0.428836|.	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.61036|0.61036	1.89|1.89	0.21105|0.21105	N|N	0.999782|0.999782	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|T	0.40308|0.40308	-0.9570|-0.9570	10|5	0.25106|.	T|.	0.35|.	-2.112|-2.112	1.2858|1.2858	0.02050|0.02050	0.3504:0.2927:0.2302:0.1268|0.3504:0.2927:0.2302:0.1268	.|.	408|.	Q8IW92|.	GLBL2_HUMAN|.	N|L	408|347	ENSP00000344659:K408N;ENSP00000444628:K408N;ENSP00000374531:K408N|.	ENSP00000344659:K408N|.	K|V	+|+	3|1	2|0	GLB1L2|GLB1L2	133746120|133746120	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.046000|0.046000	0.14306|0.14306	0.019000|0.019000	0.13444|0.13444	-0.661000|-0.661000	0.05345|0.05345	-0.137000|-0.137000	0.14449|0.14449	AAG|GTC	.		0.567	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		C	134240910	G	C	134240910	3	2	51	1	0	0	0	0	1	0	0	0	6455	1020	36	3	1274	3	GLB1L2	11	134240910	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	9608920	134240910	765606	64	10604											
SLC2A13	114134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	40441854	40441854	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaagtatttacaaaccTccatccatccttctggagat	5	10	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr12:40441854T>A	ENST00000280871.4	-	2	765	c.715A>T	c.(715-717)Agg>Tgg	p.R239W	SLC2A13_ENST00000380858.1_Splice_Site_p.R239W	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TTTACAAACCTCCATCCATCC	0.373										HNSCC(50;0.14)																											p.R239W		.											.	SLC2A13-515	0			c.A715T						.						108	107	108					12																	40441854		2203	4300	6503	SO:0001630	splice_region_variant	114134	exon2			CAAACCTCCATCC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.716+1A>T	12.37:g.40441854T>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	62	9	NM_052885	0	0	0	0	0	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874687	0.91664	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.67698	-0.28;-0.28	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.093926	0.85682	D	0.000000	D	0.89403	0.6705	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93655	0.6976	10	0.87932	D	0	-24.6783	15.8848	0.79238	0.0:0.0:0.0:1.0	.	239;239	Q96QE2;E9PE47	MYCT_HUMAN;.	W	239	ENSP00000280871:R239W;ENSP00000370239:R239W	ENSP00000280871:R239W	R	-	1	2	SLC2A13	38728121	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.538000	0.82048	2.156000	0.67533	0.533000	0.62120	AGG	.		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		Missense_Mutation	A	40441854	T	A	40441854	5	1	51	1	0	0	0	0	0	0	1	0	14587	1565	54	5	1267	5	SLC2A13	12	40441854	Splice_Site	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10		40441854	93410041	65	10605											
MCRS1	10445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49957272	49957272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgctaaacagggccttGctctggatggctgcaatagc	12	11	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr12:49957272G>A	ENST00000550165.1	-	8	881	c.615C>T	c.(613-615)agC>agT	p.S205S	MCRS1_ENST00000357123.4_Silent_p.S218S|MCRS1_ENST00000343810.4_Silent_p.S205S|MCRS1_ENST00000546244.1_Silent_p.S14S|MCRS1_ENST00000547182.1_5'Flank			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	205					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						ACAGGGCCTTGCTCTGGATGG	0.602																																					p.S218S		.											.	MCRS1-289	0			c.C654T						.						81	65	70					12																	49957272		2203	4300	6503	SO:0001819	synonymous_variant	10445	exon6			GGCCTTGCTCTGG	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.615C>T	12.37:g.49957272G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	46	14	NM_001012300	0	0	2	3	1	O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	ENST00000550165.1	37	CCDS8787.1																																																																																			.		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		A	49957272	G	A	49957272	2	1	51	1	0	0	0	0	0	0	0	1	9437	1310	46	3		3	MCRS1	12	49957272	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	9515418	49957272	83894623	66	10606											
ALX1	8092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	85677521	85677521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatccagcagtaagaaacGgaggcaccgaaccaccttca	9	12	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr12:85677521G>A	ENST00000316824.3	+	2	553	c.398G>A	c.(397-399)cGg>cAg	p.R133Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	133					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGTAAGAAACGGAGGCACCGA	0.478																																					p.R133Q		.											.	ALX1-24	0			c.G398A						.						134	128	130					12																	85677521		2203	4300	6503	SO:0001583	missense	8092	exon2			AGAAACGGAGGCA	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.398G>A	12.37:g.85677521G>A	ENSP00000315417:p.Arg133Gln	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	210	41	NM_006982	0	0	0	0	0	Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262640	0.95399	.	.	ENSG00000180318	ENST00000316824	D	0.97209	-4.29	5.59	5.59	0.84812	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99282	1.0896	10	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	133	Q15699	ALX1_HUMAN	Q	133	ENSP00000315417:R133Q	ENSP00000315417:R133Q	R	+	2	0	ALX1	84201652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.801000	0.96364	0.650000	0.86243	CGG	.		0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		A	85677521	G	A	85677521	3	1	51	1	0	0	0	0	1	0	0	0	556	1116	39	1	404	1	ALX1	12	85677521	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	35720249	85677521	48174374	67	10607											
AACS	65985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	125561105	125561105	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtcggctcaactatgcAgaaaacctcctgcggcacaa	10	13	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr12:125561105A>C	ENST00000316519.6	+	3	512	c.306A>C	c.(304-306)gcA>gcC	p.A102A	AACS_ENST00000261686.6_Silent_p.A102A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	102					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCAACTATGCAGAAAACCTCC	0.488																																					p.A102A		.											.	AACS-92	0			c.A306C						.						157	145	149					12																	125561105		2203	4300	6503	SO:0001819	synonymous_variant	65985	exon3			CTATGCAGAAAAC	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.306A>C	12.37:g.125561105A>C		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	158	36	NM_023928	0	0	0	0	0	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	CCDS9263.1																																																																																			.		0.488	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		C	125561105	A	C	125561105	2	2	51	1	0	0	0	0	0	0	0	1	9	175	7	5		5	AACS	12	125561105	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	39883584	125561105	8290790	68	10608											
NOC4L	79050	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	132633391	132633391	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgccatcctgccgcagctGgcgcagcccacgctcatgat	11	17	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr12:132633391G>C	ENST00000330579.1	+	9	893	c.852G>C	c.(850-852)ctG>ctC	p.L284L	NOC4L_ENST00000538784.1_5'Flank|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	284					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGCCGCAGCTGGCGCAGCCCA	0.687																																					p.L284L		.											.	NOC4L-90	0			c.G852C						.						29	25	26					12																	132633391		2190	4291	6481	SO:0001819	synonymous_variant	79050	exon9			GCAGCTGGCGCAG		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.852G>C	12.37:g.132633391G>C		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	87	19	NM_024078	0	0	4	4	0	Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	CCDS9277.1																																																																																			.		0.687	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		C	132633391	G	C	132633391	2	2	51	1	0	0	0	0	0	0	0	1	10554	1335	47	3		3	NOC4L	12	132633391	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	7072286	132633391	1218504	69	10609											
TPTE2	93492	bcgsc.ca	37	chr13	20006685	20006685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagattccagttgtagagatGtttcacttgtgcaaaatatc	9	6	1	2	rs192298083	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr13:20006685G>T	ENST00000400230.2	-	16	1194	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N	TPTE2_ENST00000382977.4_Missense_Mutation_p.H384N|TPTE2_ENST00000382978.1_Missense_Mutation_p.H344N|TPTE2_ENST00000382975.4_Missense_Mutation_p.H344N|TPTE2_ENST00000457266.2_Missense_Mutation_p.H273N|TPTE2_ENST00000390680.2_Missense_Mutation_p.H307N|TPTE2_ENST00000400103.2_Missense_Mutation_p.H273N|TPTE2_ENST00000255310.6_Missense_Mutation_p.H307N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	384	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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)		TTGTAGAGATGTTTCACTTGT	0.323																																					p.H384N		.											.	TPTE2-92	0			c.C1150A						.						33	32	33					13																	20006685		2201	4291	6492	SO:0001583	missense	93492	exon17			AGAGATGTTTCAC	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.1150C>A	13.37:g.20006685G>T	ENSP00000383089:p.His384Asn	Somatic	228	0		WXS	Illumina GAIIx	Phase_I	153	7	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.878406	0.00537	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.32;-3.44;-3.44;-3.32;-3.45;-3.45	2.61	-1.48	0.08745	Phosphatase tensin type (1);	0.319355	0.35838	N	0.002942	T	0.63117	0.2484	N	0.00020	-2.77	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	0.74343	-0.3696	9	.	.	.	-3.8914	4.9076	0.13806	0.1623:0.0:0.3944:0.4433	.	273;307;384	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	344;273;384;307;307;384;344;273;384;253	ENSP00000372438:H344N;ENSP00000382974:H273N;ENSP00000383089:H384N;ENSP00000255310:H307N;ENSP00000375098:H307N;ENSP00000372437:H384N;ENSP00000372435:H344N;ENSP00000442218:H273N	.	H	-	1	0	TPTE2	18904685	0.015000	0.18098	0.000000	0.03702	0.065000	0.16274	0.109000	0.15417	-0.280000	0.09154	-0.683000	0.03753	CAT	G|0.999;A|0.001		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		T	20006685	G	T	20006685	3	4	51	1	0	0	0	0	1	0	0	0	16479	1377	48	3	438	3	TPTE2	13	20006685	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		20006685	95163193	70	10610											
ARL11	115761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	50204849	50204849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcgtgtacgtgctggAcagcacagatgaagcccgct	11	12	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr13:50204849A>G	ENST00000282026.1	+	2	601	c.266A>G	c.(265-267)gAc>gGc	p.D89G	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	89					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TACGTGCTGGACAGCACAGAT	0.612																																					p.D89G		.											.	ARL11-90	0			c.A266G						.						85	84	85					13																	50204849		2203	4300	6503	SO:0001583	missense	115761	exon2			TGCTGGACAGCAC	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.266A>G	13.37:g.50204849A>G	ENSP00000282026:p.Asp89Gly	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	98	11	NM_138450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703075	0.68501	.	.	ENSG00000152213	ENST00000282026	T	0.79845	-1.31	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95436	0.8521	10	0.87932	D	0	-10.5375	14.6494	0.68786	1.0:0.0:0.0:0.0	.	89	Q969Q4	ARL11_HUMAN	G	89	ENSP00000282026:D89G	ENSP00000282026:D89G	D	+	2	0	ARL11	49102850	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	8.918000	0.92759	2.053000	0.61076	0.533000	0.62120	GAC	.		0.612	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		G	50204849	A	G	50204849	3	3	51	1	0	0	0	0	1	0	0	0	927	275	10	4	268	4	ARL11	13	50204849	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	30198164	50204849	64965029	71	10611			1	52		2	2	15	N	G_A	4.974564e-05
ARL11	115761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	50204863	50204863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcacagatgaaGcccgcttacccgagtcggcg	13	13	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr13:50204863G>T	ENST00000282026.1	+	2	615	c.280G>T	c.(280-282)Gcc>Tcc	p.A94S	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	94					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CACAGATGAAGCCCGCTTACC	0.617																																					p.A94S		.											.	ARL11-90	0			c.G280T						.						86	86	86					13																	50204863		2203	4300	6503	SO:0001583	missense	115761	exon2			GATGAAGCCCGCT	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.280G>T	13.37:g.50204863G>T	ENSP00000282026:p.Ala94Ser	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	92	11	NM_138450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021246	0.54576	.	.	ENSG00000152213	ENST00000282026	D	0.81739	-1.53	5.42	4.56	0.56223	Small GTP-binding protein domain (1);	0.229741	0.43579	D	0.000554	T	0.70482	0.3229	L	0.31207	0.915	0.50171	D	0.999857	B	0.34103	0.437	B	0.29862	0.108	T	0.71108	-0.4688	10	0.54805	T	0.06	-15.8613	14.4521	0.67392	0.0:0.0:0.8519:0.1481	.	94	Q969Q4	ARL11_HUMAN	S	94	ENSP00000282026:A94S	ENSP00000282026:A94S	A	+	1	0	ARL11	49102864	0.094000	0.21725	0.609000	0.28983	0.207000	0.24258	2.190000	0.42630	1.241000	0.43820	0.655000	0.94253	GCC	.		0.617	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		T	50204863	G	T	50204863	3	4	51	1	0	0	0	0	1	0	0	0	927	971	34	3	282	3	ARL11	13	50204863	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	14	50204863	64965015	72	10612			1	52		2	2	15	N	G_A	4.974564e-05
GZMB	3002	bcgsc.ca	37	chr14	25101618	25101618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggataaactgctgggtcGgctcctgttctttgatattg	12	8	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr14:25101618G>A	ENST00000216341.4	-	3	357	c.251C>T	c.(250-252)cCg>cTg	p.P84L	GZMB_ENST00000382540.1_Intron|GZMB_ENST00000382542.1_Missense_Mutation_p.P118L|GZMB_ENST00000526004.1_Intron|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.P72L			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	84	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CTGCTGGGTCGGCTCCTGTTC	0.522																																					p.P84L		.											.	GZMB-514	0			c.C251T						.						111	123	119					14																	25101618		2203	4300	6503	SO:0001583	missense	3002	exon3			TGGGTCGGCTCCT	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.251C>T	14.37:g.25101618G>A	ENSP00000216341:p.Pro84Leu	Somatic	141	2		WXS	Illumina GAIIx	Phase_I	166	16	NM_004131	0	0	0	0	0	Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	g	10.34	1.322578	0.23994	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542	D;D;D	0.88741	-2.42;-2.42;-2.42	5.4	-4.52	0.03472	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.793260	0.03473	N	0.213946	T	0.80839	0.4700	L	0.33245	0.995	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.09377	0.004;0.002	T	0.64428	-0.6410	10	0.32370	T	0.25	.	6.234	0.20752	0.0:0.3182:0.2322:0.4495	.	72;84	Q6XGZ4;P10144	.;GRAB_HUMAN	L	72;84;118	ENSP00000387385:P72L;ENSP00000216341:P84L;ENSP00000371982:P118L	ENSP00000216341:P84L	P	-	2	0	GZMB	24171458	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-3.679000	0.00395	-0.666000	0.05310	-2.213000	0.00299	CCG	.		0.522	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		A	25101618	G	A	25101618	3	1	51	1	0	0	0	0	1	0	0	0	6943	1116	39	1	504	1	GZMB	14	25101618	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		25101618	82247922	73	10613											
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	92920319	92920319	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagctccagccctcccaagtTcaccttccctgaagcaggct	8	17	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr14:92920319T>A	ENST00000532405.1	+	11	1182	c.956T>A	c.(955-957)tTc>tAc	p.F319Y	SLC24A4_ENST00000393265.2_Missense_Mutation_p.F255Y|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F302Y|SLC24A4_ENST00000351924.5_Missense_Mutation_p.F283Y|SLC24A4_ENST00000531433.1_Missense_Mutation_p.F300Y			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	319					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCTCCCAAGTTCACCTTCCCT	0.517																																					p.F319Y	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4-93	0			c.T956A						.						192	143	159					14																	92920319		2203	4300	6503	SO:0001583	missense	123041	exon11			CCAAGTTCACCTT	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.956T>A	14.37:g.92920319T>A	ENSP00000431840:p.Phe319Tyr	Somatic	395	0		WXS	Illumina GAIIx	Phase_I	302	80	NM_153646	0	0	0	0	0	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	T	9.426	1.084370	0.20309	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	T;T;T;T;T	0.67698	-0.26;0.14;0.15;-0.26;-0.28	5.39	5.39	0.77823	.	0.158873	0.64402	D	0.000018	T	0.50446	0.1616	L	0.41632	1.29	0.32778	N	0.502921	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.14578	0.011;0.008;0.003	T	0.50600	-0.8809	10	0.02654	T	1	.	9.1598	0.37016	0.2781:0.0:0.0:0.7219	.	300;255;319	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	Y	255;300;319;302;283;171	ENSP00000376948:F255Y;ENSP00000433302:F300Y;ENSP00000431840:F319Y;ENSP00000298877:F302Y;ENSP00000337789:F283Y	ENSP00000298877:F302Y	F	+	2	0	SLC24A4	91990072	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	2.316000	0.43761	2.043000	0.60533	0.482000	0.46254	TTC	.		0.517	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		A	92920319	T	A	92920319	3	1	51	1	0	0	0	0	1	0	0	0	14513	1783	62	5	947	5	SLC24A4	14	92920319	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	67818701	92920319	14429221	74	10614											
AHNAK2	113146	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105404743	105404743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggcagttctgcctctggtCgtgcctcaggctgtgtttga	13	10	3	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr14:105404743C>T	ENST00000333244.5	-	7	17164	c.17045G>A	c.(17044-17046)cGa>cAa	p.R5682Q	AHNAK2_ENST00000557457.1_Missense_Mutation_p.R680Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5682						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)			TGCCTCTGGTCGTGCCTCAGG	0.473																																					p.R5682Q		.											.	AHNAK2-47	0			c.G17045A						.						58	54	55					14																	105404743		1911	4128	6039	SO:0001583	missense	113146	exon7			TCTGGTCGTGCCT	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.17045G>A	14.37:g.105404743C>T	ENSP00000353114:p.Arg5682Gln	Somatic	145	1		WXS	Illumina GAIIx	Phase_I	153	42	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882354	0.33255	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03065	4.06;4.2	3.41	0.161	0.14977	.	0.875959	0.09277	N	0.824271	T	0.02156	0.0067	L	0.32530	0.975	0.09310	N	1	P	0.42649	0.786	B	0.30495	0.116	T	0.45308	-0.9270	10	0.21014	T	0.42	.	3.4302	0.07425	0.139:0.3693:0.3859:0.1058	.	5682	Q8IVF2	AHNK2_HUMAN	Q	680;5682	ENSP00000450998:R680Q;ENSP00000353114:R5682Q	ENSP00000353114:R5682Q	R	-	2	0	AHNAK2	104475788	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.806000	0.04525	0.144000	0.18951	0.655000	0.94253	CGA	.		0.473	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105404743	C	T	105404743	3	4	51	1	0	0	0	0	1	0	0	0	415	884	31	1	346	1	AHNAK2	14	105404743	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	12484424	105404743	1944797	75	10615											
RYR3	6263	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	34030716	34030716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaggatgggggagctaCgggctagctgtggaagaaga	17	7	1	2	rs112521485	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr15:34030716C>T	ENST00000389232.4	+	50	7651	c.7581C>T	c.(7579-7581)taC>taT	p.Y2527Y	RYR3_ENST00000415757.3_Silent_p.Y2527Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2527	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)		GGGGGAGCTACGGGCTAGCTG	0.507											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	28	0.00559105	0.0204	0.0014	5008	,	,		19210	0		0	False		,,,				2504	0				p.Y2527Y		.											.	RYR3-520	0			c.C7581T						.	C		33,3865		0,33,1916	95	102	100		7581	-7.6	0.3	15	dbSNP_132	100	0,8262		0,0,4131	no	coding-synonymous	RYR3	NM_001036.3		0,33,6047	TT,TC,CC		0.0,0.8466,0.2714		2527/4871	34030716	33,12127	1949	4131	6080	SO:0001819	synonymous_variant	6263	exon50			GAGCTACGGGCTA		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.7581C>T	15.37:g.34030716C>T		Somatic	110	1	844	WXS	Illumina GAIIx	Phase_I	57	25	NM_001243996	0	0	0	0	0	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			C|0.995;T|0.005		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34030716	C	T	34030716	2	4	51	1	0	0	0	0	0	0	0	1	13815	547	19	1		1	RYR3	15	34030716	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10		34030716	68500676	76	10616											
SCG3	29106	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	51981440	51981440	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagccaagcacatacaCtggaagatgaagtagcagag	11	8	0	4			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr15:51981440C>G	ENST00000220478.3	+	6	968	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	189					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGCACATACACTGGAAGATGA	0.358																																					p.L189V		.											.	SCG3-91	0			c.C565G						.						90	91	91					15																	51981440		2195	4293	6488	SO:0001583	missense	29106	exon6			CATACACTGGAAG	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.565C>G	15.37:g.51981440C>G	ENSP00000220478:p.Leu189Val	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	86	8	NM_013243	0	0	0	0	0	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160916	0.57368	.	.	ENSG00000104112	ENST00000220478	T	0.37411	1.2	5.76	1.77	0.24775	.	0.000000	0.64402	D	0.000001	T	0.44808	0.1311	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.33624	-0.9861	10	0.72032	D	0.01	-16.6346	10.161	0.42851	0.0:0.6107:0.0:0.3893	.	189	Q8WXD2	SCG3_HUMAN	V	189	ENSP00000220478:L189V	ENSP00000220478:L189V	L	+	1	2	SCG3	49768732	0.137000	0.22531	0.807000	0.32361	0.930000	0.56654	0.647000	0.24812	0.373000	0.24621	0.462000	0.41574	CTG	.		0.358	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		G	51981440	C	G	51981440	3	3	51	1	0	0	0	0	1	0	0	0	13937	564	20	3	587	3	SCG3	15	51981440	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	17950724	51981440	50549952	77	10617											
NARG2	79664	bcgsc.ca	37	chr15	60734697	60734697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagagcttcaactccAtaacaagcttgatactctac	5	12	4	2	rs1063100	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr15:60734697A>G	ENST00000261520.4	-	12	2577	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	NARG2_ENST00000439632.1_Silent_p.Y644Y	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTCAACTCCATAACAAGCTT	0.323													A|||	2978	0.594649	0.2534	0.6513	5008	,	,		18942	0.8244		0.5726	False		,,,				2504	0.8016				p.Y781Y		.											.	NARG2-227	0			c.T2343C						.	A	,	1267,3139	430.4+/-342.5	187,893,1123	89	79	82		1932,2343	-7.4	0.9	15	dbSNP_86	82	4931,3667	621.5+/-397.2	1431,2069,799	no	coding-synonymous,coding-synonymous	NARG2	NM_001018089.1,NM_024611.4	,	1618,2962,1922	GG,GA,AA		42.6495,28.7562,47.6623	,	644/846,781/983	60734697	6198,6806	2203	4299	6502	SO:0001819	synonymous_variant	79664	exon12			AACTCCATAACAA																												ENST00000261520.4:c.2343T>C	15.37:g.60734697A>G		Somatic	393	4		WXS	Illumina GAIIx	Phase_I	316	12	NM_024611	0	0	2	2	0		Silent	SNP	ENST00000261520.4	37	CCDS10176.1																																																																																			.		0.323	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			G	60734697	A	G	60734697	2	3	51	1	0	0	0	0	0	0	0	1	10207	224	8	4		4	NARG2	15	60734697	Silent	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	8753257	60734697	41796695	78	10618											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	51	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10		2059674	88295079	79	10619											
C16orf45	89927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	15596190	15596190	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcttccatgtggggcgaCctcacagagacgggatgtat	12	9	2	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:15596190C>A	ENST00000300006.4	+	2	465				C16orf45_ENST00000452191.2_Missense_Mutation_p.D4E|RP11-1021N1.1_ENST00000568222.1_Intron|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TGTGGGGCGACCTCACAGAGA	0.527																																					p.D4E		.											.	C16orf45-91	0			c.C12A						.						136	128	130					16																	15596190		692	1591	2283	SO:0001627	intron_variant	89927	exon1			GGGCGACCTCACA	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.107-12972C>A	16.37:g.15596190C>A		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	185	22	NM_001142469	0	0	0	0	0	O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467622	0.26335	.	.	ENSG00000166780	ENST00000452191	.	.	.	3.36	-6.72	0.01755	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.32561	-0.9902	5	0.72032	D	0.01	.	0.4152	0.00447	0.2098:0.2403:0.3246:0.2253	.	.	.	.	E	4	.	ENSP00000408976:D4E	D	+	3	2	C16orf45	15503691	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.470000	0.06639	-2.136000	0.00810	0.411000	0.27672	GAC	.		0.527	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		A	15596190	C	A	15596190	1	1	51	0	1	0	0	0	0	0	0	0	1819	506	18	3		3	C16orf45	16	15596190	Intron	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	13536516	15596190	74758563	80	10620											
GTF3C1	2975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	27503663	27503663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagccgacacccacctagTggggtgttgaggcagacgca	14	12	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:27503663T>C	ENST00000356183.4	-	19	3162	c.3147A>G	c.(3145-3147)ccA>ccG	p.P1049P	GTF3C1_ENST00000561623.1_Silent_p.P1049P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1049					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						ACCCACCTAGTGGGGTGTTGA	0.552																																					p.P1049P		.											.	GTF3C1-94	0			c.A3147G						.						57	59	58					16																	27503663		2197	4300	6497	SO:0001819	synonymous_variant	2975	exon19			ACCTAGTGGGGTG	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.3147A>G	16.37:g.27503663T>C		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	137	24	NM_001520	0	0	0	0	0	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																			.		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		C	27503663	T	C	27503663	2	2	51	1	0	0	0	0	0	0	0	1	6899	1683	59	4		4	GTF3C1	16	27503663	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	11907473	27503663	62851090	81	10621											
CDIPT	10423	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	29870513	29870515	+	In_Frame_Del	DEL	CTT	CTT	-													gacccggggctccagcgtcaCttcttcttggcgcggtctgc							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:29870513_29870515delCTT	ENST00000219789.6	-	6	1515_1517	c.637_639delAAG	c.(637-639)aagdel	p.K213del	CDIPT_ENST00000566113.1_In_Frame_Del_p.K168del|CDIPT_ENST00000561555.1_In_Frame_Del_p.K237del|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000570016.1_In_Frame_Del_p.K213del|CDIPT_ENST00000569956.1_In_Frame_Del_p.K213del|CDIPT_ENST00000567459.1_5'UTR	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	213					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						TCCAGCGTCACTTCTTCTTGGCG	0.665																																					p.213_213del		.											.	CDIPT-90	0			c.637_639del						.																																			SO:0001651	inframe_deletion	10423	exon6			GCGTCACTTCTTC	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.637_639delAAG	16.37:g.29870519_29870521delCTT	ENSP00000219789:p.Lys213del	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	149	34	NM_006319	0	0	0	0	0	B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	In_Frame_Del	DEL	ENST00000219789.6	37	CCDS10657.1																																																																																			.		0.665	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		-	29870515	CTT	-	29870513	7	5	51	1	0	1	0	1	0	0	0	0	3130	564	20	0	6	0	CDIPT	16	29870513	In_Frame_Del	DEL	CTT	TCGA-OR-A5LD-01A-11D-A29I-10	2366850	29870513	60484240	82	10622											
ABCC11	85320	broad.mit.edu	37	chr16	48245093	48245093	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggacatagaaaacagggctCtcctggaggaaaaacttctg	11	8	2	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:48245093C>T	ENST00000394747.1	-	10	1723	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	ABCC11_ENST00000356608.2_Silent_p.E458E|ABCC11_ENST00000353782.5_Silent_p.E458E|ABCC11_ENST00000537808.1_Silent_p.E458E|ABCC11_ENST00000394748.1_Silent_p.E458E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	458					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)	AAACAGGGCTCTCCTGGAGGA	0.468																																					p.E458E		.											.	ABCC11-95	0			c.G1374A						.						82	89	87					16																	48245093		2201	4300	6501	SO:0001819	synonymous_variant	85320	exon10			AGGGCTCTCCTGG	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.1374G>A	16.37:g.48245093C>T		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	25	3	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																			.		0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48245093	C	T	48245093	2	4	51	1	0	0	0	0	0	0	0	1	51	912	32	3		3	ABCC11	16	48245093	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	18374580	48245093	42109660	83	10623											
N4BP1	9683	broad.mit.edu;bcgsc.ca	37	chr16	48595678	48595678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcttcttcgtatgcctTtcttcagaatcagaaaatct	5	10	5	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:48595678T>G	ENST00000262384.3	-	2	1112	c.876A>C	c.(874-876)gaA>gaC	p.E292D	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	292					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCGTATGCCTTTCTTCAGAAT	0.398																																					p.E292D		.											.	N4BP1-22	0			c.A876C						.						86	83	84					16																	48595678		1831	4084	5915	SO:0001583	missense	9683	exon2			ATGCCTTTCTTCA	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.876A>C	16.37:g.48595678T>G	ENSP00000262384:p.Glu292Asp	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	15	4	NM_153029	0	0	0	0	0	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449516	0.63178	.	.	ENSG00000102921	ENST00000262384	T	0.50813	0.73	5.75	4.61	0.57282	.	0.265873	0.36519	N	0.002554	T	0.53530	0.1802	L	0.32530	0.975	0.34235	D	0.676994	D	0.76494	0.999	D	0.69307	0.963	T	0.65664	-0.6113	10	0.72032	D	0.01	-22.1891	8.9758	0.35935	0.0:0.1604:0.0:0.8396	.	292	O75113	N4BP1_HUMAN	D	292	ENSP00000262384:E292D	ENSP00000262384:E292D	E	-	3	2	N4BP1	47153179	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.100000	0.41777	0.949000	0.37715	0.533000	0.62120	GAA	.		0.398	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		G	48595678	T	G	48595678	3	3	51	1	0	0	0	0	1	0	0	0	10147	1838	64	5	1838	5	N4BP1	16	48595678	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	350585	48595678	41759075	84	10624											
ELMO3	1874	broad.mit.edu	37	chr16	67234630	67234630	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttgggctgctggagaGtgtgaccttgagcagcccag	16	11	0	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:67234630G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Missense_Mutation_p.S231N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S248N|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.S82N|ELMO3_ENST00000571638.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGCTGGAGAGTGTGACCTTG	0.642																																					p.S248N		.											.	ELMO3-90	0			c.G743A						.						42	46	45					16																	67234630		2041	4181	6222	SO:0001628	intergenic_variant	79767	exon7			TGGAGAGTGTGAC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67234630G>A		Somatic	100	2		WXS	Illumina GAIIx	Phase_I	294	32	NM_024712	0	0	1	3	2	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870066	0.33069	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.37915	1.17;1.17	4.62	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.274240	0.47852	N	0.000212	T	0.23014	0.0556	L	0.27053	0.805	0.51767	D	0.999934	B;B;B	0.12013	0.002;0.005;0.005	B;B;B	0.15484	0.011;0.009;0.013	T	0.05209	-1.0899	10	0.24483	T	0.36	-3.7439	8.9277	0.35650	0.1797:0.0:0.8203:0.0	.	195;231;248	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	231;248	ENSP00000354077:S231N;ENSP00000377566:S248N	ENSP00000354077:S231N	S	+	2	0	ELMO3	65792131	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.157000	0.58144	1.181000	0.42912	0.561000	0.74099	AGT	.		0.642	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67234630	G	A	67234630	1	1	51	0	1	0	0	0	0	0	0	0	5083	1029	36	3		3	ELMO3	16	67234630	IGR	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	18638952	67234630	23120123	85	10625											
PKD1L2	114780	bcgsc.ca	37	chr16	81185478	81185478	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggaaataccacttccGgtccatcaccaggtcataga	8	13	2	1	rs374254873		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr16:81185478G>A	ENST00000525539.1	-	0	4446				PKD1L2_ENST00000533478.1_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						TACCACTTCCGGTCCATCACC	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		18087	0		0	False		,,,				2504	0				.		.											.	PKD1L2-92	0			.						.						60	56	58					16																	81185478		1954	4148	6102			114780	.			ACTTCCGGTCCAT	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.81185478G>A		Somatic	326	2		WXS	Illumina GAIIx	Phase_I	168	7	.	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																				.		0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81185478	G	A	81185478	1	1	51	0	1	0	0	0	0	0	0	0	12004	1115	39	1		1	PKD1L2	16	81185478	RNA	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	13950848	81185478	9169275	86	10626											
ACAP1	9744	hgsc.bcm.edu	37	chr17	7251272	7251273	+	Frame_Shift_Del	DEL	TC	TC	-													ttcacttctccaaagtccggTctctgacccttgactcatgg							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr17:7251272_7251273delTC	ENST00000158762.3	+	15	1581_1582	c.1375_1376delTC	c.(1375-1377)tctfs	p.S459fs	ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	459	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAAAGTCCGGTCTCTGACCCTT	0.604																																					p.459_459del		.											.	ACAP1-153	0			c.1375_1376del						.																																			SO:0001589	frameshift_variant	9744	exon15			GTCCGGTCTCTGA	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1375_1376delTC	17.37:g.7251274_7251275delTC	ENSP00000158762:p.Ser459fs	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	87	14	NM_014716	0	0	0	0	0	Q53XN9	Frame_Shift_Del	DEL	ENST00000158762.3	37	CCDS11101.1																																																																																			.		0.604	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		-	7251273	TC	-	7251272	7	5	51	1	0	1	0	1	0	0	0	0	118	1667	58	0	1433	0	ACAP1	17	7251272	Frame_Shift_Del	DEL	TC	TCGA-OR-A5LD-01A-11D-A29I-10		7251272	73943938	87	10627											
IGFBP4	3487	hgsc.bcm.edu	37	chr17	38600092	38600092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccgaggagaagctGgcgcgctgccgcccccccgt	13	19	0	1	rs598892	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr17:38600092G>A	ENST00000269593.4	+	1	380	c.105G>A	c.(103-105)ctG>ctA	p.L35L	IGFBP4_ENST00000542955.1_Intron	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGAGAAGCTGGCGCGCTGCC	0.771													G|||	1792	0.357827	0.0386	0.5	5008	,	,		9796	0.4752		0.3946	False		,,,				2504	0.5297				p.L35L	GBM(160;940 3581 26177)	.											.	IGFBP4-522	0			c.G105A						.	G		266,3270		24,218,1526	3	3	3		105	4	1	17	dbSNP_83	3	2267,4893		352,1563,1665	no	coding-synonymous	IGFBP4	NM_001552.2		376,1781,3191	AA,AG,GG		31.662,7.5226,23.6818		35/259	38600092	2533,8163	1768	3580	5348	SO:0001819	synonymous_variant	3487	exon1			GAAGCTGGCGCGC	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.105G>A	17.37:g.38600092G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001552	0	0	0	0	0	A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	ENST00000269593.4	37	CCDS11367.1																																																																																			G|0.645;A|0.355		0.771	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		A	38600092	G	A	38600092	2	1	51	1	0	0	0	0	0	0	0	1	7608	1335	47	3		3	IGFBP4	17	38600092	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	31348820	38600092	42595118	88	10628											
QRICH2	84074	bcgsc.ca	37	chr17	74288508	74288508	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttggaccaaaccatgctgaTctgcaccaggttggaccaaa	10	11	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr17:74288508T>A	ENST00000262765.5	-	4	1981	c.1802A>T	c.(1801-1803)gAt>gTt	p.D601V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	601	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACCATGCTGATCTGCACCAGG	0.537																																					p.D601V		.											.	QRICH2-94	0			c.A1802T						.						168	134	145					17																	74288508		2203	4300	6503	SO:0001583	missense	84074	exon4			TGCTGATCTGCAC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1802A>T	17.37:g.74288508T>A	ENSP00000262765:p.Asp601Val	Somatic	297	3		WXS	Illumina GAIIx	Phase_I	288	13	NM_032134	0	0	0	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	8.120	0.780708	0.16120	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.21734	1.99	4.82	-9.63	0.00544	.	.	.	.	.	T	0.06735	0.0172	N	0.16478	0.41	0.09310	N	1	P;B	0.37276	0.589;0.138	B;B	0.33454	0.164;0.033	T	0.14200	-1.0481	9	0.18710	T	0.47	0.7097	1.6345	0.02739	0.4588:0.2138:0.0952:0.2322	.	601;601	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	601	ENSP00000262765:D601V	ENSP00000262765:D601V	D	-	2	0	QRICH2	71800103	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.623000	0.00059	-2.309000	0.00651	-0.444000	0.05651	GAT	.		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74288508	T	A	74288508	3	1	51	1	0	0	0	0	1	0	0	0	12925	1435	50	5	3253	5	QRICH2	17	74288508	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	35688416	74288508	6906702	89	10629											
ENGASE	64772	hgsc.bcm.edu	37	chr17	77071040	77071040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcatggaggccgcggCggtgacggtcacccggtcgg	18	12	2	1	rs56107536	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr17:77071040C>A	ENST00000579016.1	+	1	14	c.14C>A	c.(13-15)gCg>gAg	p.A5E	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	5						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						gaggccgcggcggtgacggtc	0.766													C|||	823	0.164337	0.0159	0.2925	5008	,	,		7125	0.2917		0.1143	False		,,,				2504	0.1943				p.A5E		.											.	ENGASE-91	0			c.C14A						.	C	GLU/ALA	98,2574		1,96,1239	3	4	4		14	2.5	0	17	dbSNP_129	4	659,5613		26,607,2503	no	missense	ENGASE	NM_001042573.1	107	27,703,3742	AA,AC,CC		10.507,3.6677,8.4638	possibly-damaging	5/744	77071040	757,8187	1336	3136	4472	SO:0001583	missense	64772	exon1			CCGCGGCGGTGAC	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.14C>A	17.37:g.77071040C>A	ENSP00000462333:p.Ala5Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001042573	0	0	0	0	0	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	358	0.16391941391941392	12	0.024390243902439025	89	0.24585635359116023	166	0.2902097902097902	91	0.12005277044854881	C	14.26	2.483801	0.44147	0.036677	0.10507	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	T	0.00012	0.0000	N	0.22421	0.69	0.31931	P	0.612136	P;P	0.40000	0.572;0.698	B;P	0.45377	0.22;0.478	T	0.25363	-1.0134	7	0.49607	T	0.09	-17.5832	8.7108	0.34382	0.0:1.0:0.0:0.0	rs56107536	5;5	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	E	5	.	ENSP00000308158:A5E	A	+	2	0	ENGASE	74582635	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.338000	0.07842	1.723000	0.51488	0.563000	0.77884	GCG	C|0.836;A|0.164		0.766	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		A	77071040	C	A	77071040	3	1	51	1	0	0	0	0	1	0	0	0	5134	768	27	2	16	2	ENGASE	17	77071040	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	2782532	77071040	4124170	90	10630											
THOC1	9984	broad.mit.edu;bcgsc.ca	37	chr18	268019	268021	+	Start_Codon_Del	DEL	TCT	TCT	-													gagcggcggcgtcggagacaTcttctcggctgcgcgtgccc					rs186687400		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr18:268019_268021delTCT	ENST00000261600.6	-	0	6_8				THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1						apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTCGGAGACATCTTCTCGGCTGC	0.67																																							.											.	THOC1-91	0									.																																			SO:0001582	initiator_codon_variant	9984	wholegene			GAGACATCTTCTC	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9			18.37:g.268022_268024delTCT		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	69	0	NM_005131	0	0	0	0	0	B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Del	DEL	ENST00000261600.6	37	CCDS45820.1																																																																																			.		0.67	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		-	268021	TCT	-	268019	7	5	51	1	0	1	0	1	0	0	0	0	15911	1435	50	0	2056	0	THOC1	18	268019	Start_Codon_Del	DEL	TCT	TCGA-OR-A5LD-01A-11D-A29I-10		268019	77809229	91	10631											
RNF165	494470	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	44013156	44013156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccttgccttccaggtgCcccctttcaaaggtctcagc	8	16	2	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr18:44013156C>T	ENST00000269439.7	+	2	116	c.65C>T	c.(64-66)gCc>gTc	p.A22V	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	22							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTTCCAGGTGCCCCCTTTCAA	0.677																																					p.A22V		.											.	RNF165-90	0			c.C65T						.						49	36	41					18																	44013156		2203	4299	6502	SO:0001583	missense	494470	exon2			CAGGTGCCCCCTT	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.65C>T	18.37:g.44013156C>T	ENSP00000269439:p.Ala22Val	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	126	28	NM_152470	0	0	0	0	0	B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034657	0.75617	.	.	ENSG00000141622	ENST00000269439	T	0.19806	2.12	5.36	5.36	0.76844	.	0.070233	0.56097	D	0.000036	T	0.27489	0.0675	L	0.56769	1.78	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.04885	-1.0920	10	0.72032	D	0.01	-5.9537	19.0744	0.93154	0.0:1.0:0.0:0.0	.	22	Q6ZSG1	RN165_HUMAN	V	22	ENSP00000269439:A22V	ENSP00000269439:A22V	A	+	2	0	RNF165	42267154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.217000	0.58547	2.515000	0.84797	0.462000	0.41574	GCC	.		0.677	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		T	44013156	C	T	44013156	3	4	51	1	0	0	0	0	1	0	0	0	13501	739	26	3	71	3	RNF165	18	44013156	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	43745137	44013156	34064092	92	10632											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9045734	9045734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtagttctcaagataGtggttggactcactccttct	8	10	3	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:9045734G>C	ENST00000397910.4	-	5	36100	c.35897C>G	c.(35896-35898)aCt>aGt	p.T11966S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11968	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						TCTCAAGATAGTGGTTGGACT	0.473																																					p.T11966S		.											.	MUC16-566	0			c.C35897G						.						203	199	200					19																	9045734		1992	4158	6150	SO:0001583	missense	94025	exon5			AAGATAGTGGTTG	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.35897C>G	19.37:g.9045734G>C	ENSP00000381008:p.Thr11966Ser	Somatic	297	0		WXS	Illumina GAIIx	Phase_I	306	100	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928395	0.18131	.	.	ENSG00000181143	ENST00000397910	T	0.02158	4.42	3.42	3.42	0.39159	.	.	.	.	.	T	0.04497	0.0123	N	0.24115	0.695	.	.	.	D	0.64830	0.994	P	0.58970	0.849	T	0.38950	-0.9637	8	0.87932	D	0	.	10.6434	0.45606	0.0:0.0:1.0:0.0	.	11966	B5ME49	.	S	11966	ENSP00000381008:T11966S	ENSP00000381008:T11966S	T	-	2	0	MUC16	8906734	0.020000	0.18652	0.006000	0.13384	0.031000	0.12232	1.701000	0.37825	2.217000	0.71921	0.555000	0.69702	ACT	.		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9045734	G	C	9045734	3	2	51	1	0	0	0	0	1	0	0	0	10011	1029	36	3	7946	3	MUC16	19	9045734	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10		9045734	50083249	93	10633											
DNMT1	1786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	10259655	10259655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaagtaggtcttcccGtcgtccccctccagcaggga	12	13	1	1	rs200928585		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:10259655G>A	ENST00000340748.4	-	26	2812	c.2577C>T	c.(2575-2577)gaC>gaT	p.D859D	DNMT1_ENST00000359526.4_Silent_p.D875D|DNMT1_ENST00000540357.1_Silent_p.D859D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	859	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGGTCTTCCCGTCGTCCCCCT	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		19451	0		0	False		,,,				2504	0				p.D875D		.											.	DNMT1-660	0			c.C2625T						.	G	,	1,4405	2.1+/-5.4	0,1,2202	140	105	117		2625,2577	-10	0	19		117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	875/1633,859/1617	10259655	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1786	exon27			CTTCCCGTCGTCC	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.2577C>T	19.37:g.10259655G>A		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	170	36	NM_001130823	0	0	0	0	0	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																			G|0.999;A|0.000		0.557	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		A	10259655	G	A	10259655	2	1	51	1	0	0	0	0	0	0	0	1	4689	1136	40	1		1	DNMT1	19	10259655	Silent	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	1213921	10259655	48869328	94	10634											
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704002	29704002	+	Silent	SNP	T	T	C													aggacgggcgcgaacgggccTgagcgggatgctaccgacaa					rs11666764	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1	2	2					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704002	T	C	29704002	2	2	51	1	0	0	0	0	0	0	0	1	17070	1567	55	4		4	UQCRFS1	19	29704002	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	19444347	29704002	29424981	95	10635	105	2									
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C													cgcgaacgggcctgagcgggAtgctaccgacaacatggcga					rs8100724	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1	2	2					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_006003	0	0	0	0	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704010	A	C	29704010	3	2	51	1	0	0	0	0	1	0	0	0	17070	333	12	5	816	5	UQCRFS1	19	29704010	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10	8	29704010	29424973	96	10636	105	2									
ZNF420	147923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	37619839	37619839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaatgtaaggaatgtgGgaaggcctttactcgtggtt	12	5	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:37619839G>A	ENST00000337995.3	+	5	2161	c.1946G>A	c.(1945-1947)gGg>gAg	p.G649E	ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGTGGGAAGGCCTTT	0.388																																					p.G649E		.											.	ZNF420-90	0			c.G1946A						.						84	82	83					19																	37619839		2203	4299	6502	SO:0001583	missense	147923	exon5			AATGTGGGAAGGC	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1946G>A	19.37:g.37619839G>A	ENSP00000338770:p.Gly649Glu	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	88	22	NM_144689	0	0	1	1	0	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827427	0.32329	.	.	ENSG00000197050	ENST00000337995	T	0.07114	3.22	4.46	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	L	0.60012	1.86	0.80722	D	1	B	0.16396	0.017	B	0.17433	0.018	T	0.08249	-1.0731	8	.	.	.	.	11.0362	0.47802	0.0932:0.0:0.9068:0.0	.	649	Q8TAQ5	ZN420_HUMAN	E	649	ENSP00000338770:G649E	.	G	+	2	0	ZNF420	42311679	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.365000	0.20348	1.095000	0.41419	0.655000	0.94253	GGG	.		0.388	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		A	37619839	G	A	37619839	3	1	51	1	0	0	0	0	1	0	0	0	17945	1232	43	3	1956	3	ZNF420	19	37619839	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	7915829	37619839	21509144	97	10637											
ADCK4	79934	hgsc.bcm.edu;broad.mit.edu	37	chr19	41220217	41220217	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgggacgggcctccCgtgccctgcgaatgtcctcc	11	17	1	0	rs548830266		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:41220217C>G	ENST00000324464.3	-	3	489	c.188G>C	c.(187-189)cGg>cCg	p.R63P	ADCK4_ENST00000450541.1_Missense_Mutation_p.R63P|ITPKC_ENST00000263370.2_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R63P	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	63						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)			ACGGGCCTCCCGTGCCCTGCG	0.617																																					p.R63P		.											.	ADCK4-319	0			c.G188C						.						54	57	56					19																	41220217		2203	4300	6503	SO:0001583	missense	79934	exon3			GCCTCCCGTGCCC	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.188G>C	19.37:g.41220217C>G	ENSP00000315118:p.Arg63Pro	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	35	8	NM_001142555	0	0	0	0	0	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778841	0.70107	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.77877	-1.13;-1.07;-1.07	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.68317	2.08	0.42313	D	0.992228	D;D	0.89917	1.0;0.999	D;D	0.76071	0.979;0.987	D	0.86805	0.1994	10	0.51188	T	0.08	-10.9034	15.9215	0.79580	0.0:1.0:0.0:0.0	.	63;63	Q96D53;Q96D53-2	ADCK4_HUMAN;.	P	63	ENSP00000315118:R63P;ENSP00000412839:R63P;ENSP00000243583:R63P	ENSP00000243583:R63P	R	-	2	0	ADCK4	45912057	1.000000	0.71417	0.997000	0.53966	0.575000	0.36095	4.023000	0.57211	2.567000	0.86603	0.556000	0.70494	CGG	.		0.617	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		G	41220217	C	G	41220217	3	3	51	1	0	0	0	0	1	0	0	0	290	652	23	2	1498	2	ADCK4	19	41220217	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	3600378	41220217	17908766	98	10638											
ERF	2077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42753866	42753866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccacccgacggcactggcGgggcactctggggcactgca	14	15	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:42753866G>A	ENST00000222329.4	-	4	555	c.398C>T	c.(397-399)cCg>cTg	p.P133L	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.P58L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	133					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGGCACTGGCGGGGCACTCTG	0.672																																					p.P133L		.											.	ERF-658	0			c.C398T						.						45	44	45					19																	42753866		2203	4300	6503	SO:0001583	missense	2077	exon4			ACTGGCGGGGCAC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.398C>T	19.37:g.42753866G>A	ENSP00000222329:p.Pro133Leu	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	103	23	NM_006494	0	0	2	4	2	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890356	0.72524	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.52526	0.66;0.66	4.72	4.72	0.59763	.	0.059694	0.64402	D	0.000002	T	0.40448	0.1117	L	0.54323	1.7	0.80722	D	1	P	0.35551	0.509	B	0.18561	0.022	T	0.50355	-0.8838	10	0.87932	D	0	.	15.565	0.76284	0.0:0.0:1.0:0.0	.	133	P50548	ERF_HUMAN	L	133;58	ENSP00000222329:P133L;ENSP00000388173:P58L	ENSP00000222329:P133L	P	-	2	0	ERF	47445706	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	9.186000	0.94906	2.627000	0.88993	0.561000	0.74099	CCG	.		0.672	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		A	42753866	G	A	42753866	3	1	51	1	0	0	0	0	1	0	0	0	5237	1116	39	1	1252	1	ERF	19	42753866	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	1533649	42753866	16375117	99	10639											
ZNF226	7769	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	44680835	44680837	+	In_Frame_Del	DEL	TCA	TCA	-													gagttcacactggagagaagTcatacatatgtactgtatgt					rs61742482		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	TCA	TCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:44680835_44680837delTCA	ENST00000590089.1	+	7	1787_1789	c.1420_1422delTCA	c.(1420-1422)tcadel	p.S474del	ZNF226_ENST00000454662.2_In_Frame_Del_p.S474del|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_In_Frame_Del_p.S474del			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGGAGAGAAGTCATACATATGTA	0.448																																					p.474_474del	Pancreas(115;581 1665 13228 19278 50070)	.											.	.	0			c.1420_1422del						.																																			SO:0001651	inframe_deletion	7769	exon6			GAGAAGTCATACA	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1420_1422delTCA	19.37:g.44680835_44680837delTCA	ENSP00000465121:p.Ser474del	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	141	20	NM_001032372	0	0	0	0	0	Q8WWE6|Q96TE6|Q9NS44	In_Frame_Del	DEL	ENST00000590089.1	37	CCDS46102.1																																																																																			.		0.448	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			-	44680837	TCA	-	44680835	7	5	51	1	0	1	0	1	0	0	0	0	17828	1667	58	0	1488	0	ZNF226	19	44680835	In_Frame_Del	DEL	TCA	TCGA-OR-A5LD-01A-11D-A29I-10	1926969	44680835	14448148	100	10640											
SYMPK	8189	broad.mit.edu	37	chr19	46321272	46321272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccccccaggcgggggTacatggtcagggactggatg	17	11	1	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:46321272T>G	ENST00000245934.7	-	23	3270	c.3026A>C	c.(3025-3027)tAc>tCc	p.Y1009S	RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1009					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGCGGGGGTACATGGTCAG	0.637																																					p.Y1009S		.											.	SYMPK-91	0			c.A3026C						.						46	38	41					19																	46321272		2196	4295	6491	SO:0001583	missense	8189	exon23			CGGGGGTACATGG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3026A>C	19.37:g.46321272T>G	ENSP00000245934:p.Tyr1009Ser	Somatic	74	7		WXS	Illumina GAIIx	Phase_I	100	18	NM_004819	1	0	29	31	1	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683927	0.88639	.	.	ENSG00000125755	ENST00000245934	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.83582	0.0118	10	0.72032	D	0.01	.	13.295	0.60292	0.0:0.0:0.0:1.0	.	1009	Q92797	SYMPK_HUMAN	S	1009	ENSP00000245934:Y1009S	ENSP00000245934:Y1009S	Y	-	2	0	SYMPK	51013112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.039000	0.60335	0.454000	0.30748	TAC	.		0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		G	46321272	T	G	46321272	3	3	51	1	0	0	0	0	1	0	0	0	15486	1638	57	5	818	5	SYMPK	19	46321272	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	1640437	46321272	12807711	101	10641											
LILRB2	10288	broad.mit.edu;bcgsc.ca	37	chr19	54783810	54783810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatccaagatgctgattttTtctccctatatagacggtac	6	9	1	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr19:54783810T>C	ENST00000391749.4	-	4	462	c.191A>G	c.(190-192)aAa>aGa	p.K64R	LILRB2_ENST00000391748.1_Missense_Mutation_p.K64R|LILRB2_ENST00000391746.1_Missense_Mutation_p.K64R|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.K64R|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'UTR	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	64	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCTGATTTTTTCTCCCTATA	0.547																																					p.K64R		.											.	LILRB2-91	0			c.A191G						.						209	202	205					19																	54783810		2203	4300	6503	SO:0001583	missense	10288	exon4			GATTTTTTCTCCC	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.191A>G	19.37:g.54783810T>C	ENSP00000375629:p.Lys64Arg	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	209	6	NM_005874	0	0	0	0	0	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	6.581	0.475549	0.12521	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	2.48	-1.63	0.08345	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358570	0.04987	N	0.466614	T	0.08492	0.0211	L	0.31065	0.9	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14023	0.01;0.007;0.007	T	0.14227	-1.0480	10	0.38643	T	0.18	.	6.127	0.20184	0.0:0.5979:0.0:0.4021	.	64;81;64	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	R	64	ENSP00000375628:K64R;ENSP00000319960:K64R;ENSP00000375629:K64R;ENSP00000375626:K64R	ENSP00000319960:K64R	K	-	2	0	LILRB2	59475622	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.977000	0.03782	-0.393000	0.07739	-1.473000	0.01005	AAA	.		0.547	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			C	54783810	T	C	54783810	3	2	51	1	0	0	0	0	1	0	0	0	8820	1841	64	4	1649	4	LILRB2	19	54783810	Missense_Mutation	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	8462538	54783810	4345173	102	10642											
PANK2	80025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3869889	3869889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccgccccgtcacgatagcCtctcattggacggaggcacg	11	17	2	0			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr20:3869889C>G	ENST00000316562.4	+	1	148	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	48					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACGATAGCCTCTCATTGGA	0.662																																					p.L48V		.											.	PANK2-115	0			c.C142G						.						33	27	29					20																	3869889		2203	4300	6503	SO:0001583	missense	80025	exon1			GATAGCCTCTCAT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.142C>G	20.37:g.3869889C>G	ENSP00000313377:p.Leu48Val	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	118	46	NM_153638	0	0	0	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115102	0.37339	.	.	ENSG00000125779	ENST00000316562	D	0.97598	-4.45	4.9	-3.18	0.05186	.	1.754440	0.03254	N	0.182278	D	0.90473	0.7016	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	D	0.83597	0.0126	10	0.45353	T	0.12	.	3.6642	0.08250	0.2804:0.2981:0.0:0.4215	.	48	Q9BZ23	PANK2_HUMAN	V	48	ENSP00000313377:L48V	ENSP00000313377:L48V	L	+	1	0	PANK2	3817889	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-0.524000	0.06222	-0.400000	0.07656	-0.169000	0.13324	CTC	.		0.662	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		G	3869889	C	G	3869889	3	3	51	1	0	0	0	0	1	0	0	0	11456	681	24	3	144	3	PANK2	20	3869889	Missense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10		3869889	59155631	103	10643											
PAK7	57144	broad.mit.edu	37	chr20	9546653	9546653	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacgatgccggttgagccttCcccgattttgataaagttgg	11	9	0	2			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr20:9546653C>A	ENST00000378429.3	-	6	1915	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.E457*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.E457*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTGAGCCTTCCCCGATTTTG	0.557																																					p.E457X		.											.	PAK7-1434	0			c.G1369T						.						215	201	206					20																	9546653		2203	4300	6503	SO:0001587	stop_gained	57144	exon5			AGCCTTCCCCGAT	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1369G>T	20.37:g.9546653C>A	ENSP00000367686:p.Glu457*	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	191	6	NM_177990	0	0	0	0	0	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	42	9.387067	0.99156	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	.	.	.	X	457;457;457;405	.	.	E	-	1	0	PAK7	9494653	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.654000	0.90174	0.585000	0.79938	GAA	.		0.557	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9546653	C	A	9546653	4	1	51	1	0	0	0	0	0	1	0	0	11444	864	30	3	814	3	PAK7	20	9546653	Nonsense_Mutation	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	5676764	9546653	53478867	104	10644											
NINL	22981	bcgsc.ca	37	chr20	25439036	25439036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgctgtgcatccaggcGcctcctggcctgctctccct	9	19	1	0	rs41310175	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr20:25439036G>A	ENST00000278886.6	-	22	3899	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	NINL_ENST00000422516.1_Missense_Mutation_p.R927C|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1276			R -> C (in dbSNP:rs41310175).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCATCCAGGCGCCTCCTGGCC	0.677													g|||	77	0.0153754	0.0038	0.0216	5008	,	,		17279	0.001		0.0487	False		,,,				2504	0.0072				p.R1276C		.											.	NINL-94	0			c.C3826T						.	A	CYS/ARG	42,4364	46.0+/-80.4	0,42,2161	66	58	61		3826	-4.8	0	20	dbSNP_127	61	350,8250	119.0+/-178.4	8,334,3958	yes	missense	NINL	NM_025176.4	180	8,376,6119	AA,AG,GG		4.0698,0.9532,3.014	probably-damaging	1276/1383	25439036	392,12614	2203	4300	6503	SO:0001583	missense	22981	exon22			CCAGGCGCCTCCT		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3826C>T	20.37:g.25439036G>A	ENSP00000278886:p.Arg1276Cys	Somatic	101	1		WXS	Illumina GAIIx	Phase_I	115	6	NM_025176	0	0	9	9	0	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	52	0.023809523809523808	4	0.008130081300813009	9	0.024861878453038673	1	0.0017482517482517483	38	0.05013192612137203	g	8.701	0.909849	0.17833	0.009532	0.040698	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34859	1.34;1.34	2.4	-4.81	0.03180	.	0.935097	0.08759	N	0.897966	T	0.07863	0.0197	L	0.51422	1.61	0.09310	N	1	D;D;D	0.69078	0.975;0.97;0.997	B;B;P	0.54270	0.162;0.27;0.747	T	0.12066	-1.0562	10	0.59425	D	0.04	-0.6612	4.7227	0.12926	0.3007:0.2906:0.4087:0.0	rs41310175;rs61737614	927;1276;67	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	C	1276;927	ENSP00000278886:R1276C;ENSP00000410431:R927C	ENSP00000278886:R1276C	R	-	1	0	NINL	25387036	0.007000	0.16637	0.000000	0.03702	0.059000	0.15707	1.664000	0.37439	-1.568000	0.01670	-0.970000	0.02610	CGC	G|0.973;A|0.027		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		A	25439036	G	A	25439036	3	1	51	1	0	0	0	0	1	0	0	0	10459	1087	38	1	334	1	NINL	20	25439036	Missense_Mutation	SNP	G	TCGA-OR-A5LD-01A-11D-A29I-10	15892383	25439036	37586484	105	10645											
C20orf43	51507	hgsc.bcm.edu	37	chr20	55059239	55059239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagataaaagcggaagtttgCcacacggtgagttcctgaca	12	8	0	3			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr20:55059239C>T	ENST00000023939.4	+	5	578	c.471C>T	c.(469-471)tgC>tgT	p.C157C	RTFDC1_ENST00000395881.3_Silent_p.C157C|RTFDC1_ENST00000357348.5_Silent_p.C187C	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	157																	CGGAAGTTTGCCACACGGTGA	0.478																																					p.C157C		.											.	.	0			c.C471T						.						166	162	163					20																	55059239		2203	4300	6503	SO:0001819	synonymous_variant	51507	exon5			AGTTTGCCACACG	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 43"	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.471C>T	20.37:g.55059239C>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	76	4	NM_016407	0	0	0	0	0	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Silent	SNP	ENST00000023939.4	37	CCDS13453.1																																																																																			.		0.478	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		T	55059239	C	T	55059239	2	4	51	1	0	0	0	0	0	0	0	1	2119	747	26	3		3	C20orf43	20	55059239	Silent	SNP	C	TCGA-OR-A5LD-01A-11D-A29I-10	29620203	55059239	7966281	106	10646											
TIAM1	7074	broad.mit.edu	37	chr21	32624321	32624321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccggaagttctcgtacAccccctgacgagccgcatcc	9	19	1	1			TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr21:32624321A>C	ENST00000286827.3	-	6	1619	c.1148T>G	c.(1147-1149)gTg>gGg	p.V383G	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.V383G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	383					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTTCTCGTACACCCCCTGACG	0.667																																					p.V383G		.											.	TIAM1-724	0			c.T1148G						.						52	59	57					21																	32624321		2203	4299	6502	SO:0001583	missense	7074	exon6			TCGTACACCCCCT		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1148T>G	21.37:g.32624321A>C	ENSP00000286827:p.Val383Gly	Somatic	66	11		WXS	Illumina GAIIx	Phase_I	84	17	NM_003253	0	0	0	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497945	0.85069	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.50813	0.79;0.73	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.67612	-0.5626	10	0.87932	D	0	.	14.6199	0.68576	1.0:0.0:0.0:0.0	.	383;383;383	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	G	383;224;383	ENSP00000286827:V383G;ENSP00000441570:V383G	ENSP00000286827:V383G	V	-	2	0	TIAM1	31546192	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	8.596000	0.90844	2.021000	0.59480	0.533000	0.62120	GTG	.		0.667	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		C	32624321	A	C	32624321	3	2	51	1	0	0	0	0	1	0	0	0	15937	159	6	5	3723	5	TIAM1	21	32624321	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10		32624321	15505574	107	10647											
TIMP3	7078	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C													cagctggtaccgaggatgggINScccccccggataaaagcatc							TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)gccfs	p.A199fs	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					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						CCGAGGATGGGCCCCCCCGGAT	0.604																																					p.A199fs		.											.	TIMP3-226	0			c.595_596insC						.																																			SO:0001589	frameshift_variant	7078	exon5			GGATGGGCCCCCC		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.602dupC	22.37:g.33255330_33255330dupC	ENSP00000266085:p.Ala199fs	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	76	20	NM_000362	0	0	0	0	0	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Frame_Shift_Ins	INS	ENST00000266085.6	37	CCDS13911.1																																																																																			.		0.604	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		C	33255324	-	C	33255323	7	5	51	1	0	1	1	0	0	0	0	0	15966	1203	42	0	613	0	TIMP3	22	33255323	Frame_Shift_Ins	INS	-	TCGA-OR-A5LD-01A-11D-A29I-10		33255323	18049243	108	10648											
GCAT	23464	broad.mit.edu	37	chr22	38205989	38205989	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctttccaggcctgccctTgccccacctgagctgctgta	8	17	1	1	rs2285178	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chr22:38205989T>C	ENST00000248924.6	+	2	252				GCAT_ENST00000415371.1_Intron|GCAT_ENST00000323205.6_Missense_Mutation_p.L77S	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase						biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGCCTGCCCTTGCCCCACCTG	0.557													.|||	1380	0.275559	0.1014	0.3098	5008	,	,		18233	0.3135		0.332	False		,,,				2504	0.3896				p.L77S		.											.	GCAT-90	0			c.T230C						.	T	SER/LEU,	618,3788	253.4+/-259.3	47,524,1632	66	43	51		230,	0	0	22	dbSNP_100	51	2672,5926	399.5+/-346.5	383,1906,2010	yes	missense,intron	GCAT	NM_001171690.1,NM_014291.3	145,	430,2430,3642	CC,CT,TT		31.077,14.0263,25.2999	,	77/446,	38205989	3290,9714	2203	4299	6502	SO:0001627	intron_variant	23464	exon2			TGCCCTTGCCCCA	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.197-45T>C	22.37:g.38205989T>C		Somatic	145	1		WXS	Illumina GAIIx	Phase_I	95	5	NM_001171690	0	0	0	0	0	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	CCDS13957.1	614	0.28113553113553114	54	0.10975609756097561	114	0.3149171270718232	195	0.3409090909090909	251	0.3311345646437995	t	5.786	0.329321	0.10956	0.140263	0.31077	ENSG00000100116	ENST00000323205;ENST00000445195;ENST00000394944	D;D	0.94793	-3.52;-1.86	3.68	0.00572	0.14064	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	B	0.19583	0.037	B	0.13407	0.009	T	0.09378	-1.0677	7	0.87932	D	0	.	4.1025	0.10020	0.3637:0.0:0.1877:0.4486	rs2285178;rs59294489;rs2285178	77	E2QC23	.	S	77	ENSP00000371110:L77S;ENSP00000406719:L77S	ENSP00000371110:L77S	L	+	2	0	GCAT	36535935	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.213000	0.17521	-0.072000	0.12864	0.402000	0.26972	TTG	T|0.722;C|0.278		0.557	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		C	38205989	T	C	38205989	1	2	51	0	1	0	0	0	0	0	0	0	6309	1821	63	4		4	GCAT	22	38205989	Intron	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	4950666	38205989	13098577	109	10649											
AR	367	bcgsc.ca	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																												p.Q58L		.											.	AR-661	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.A173T	GRCh37	CM033749	AR	M	rs5902610	.						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCTGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	21	4	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	.		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765161	A	T	66765161	3	4	51	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-OR-A5LD-01A-11D-A29I-10		66765161	88505399	110	10650											
PASD1	139135	bcgsc.ca	37	chrX	150840185	150840185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcaagtgtttctgtggTttatctttatccaactctct	7	9	4	0	rs6627174	byFrequency	TCGA-OR-A5LD-01A-11D-A29I-10	TCGA-OR-A5LD-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0d84ce93-4c12-49da-87b3-c36d44672d59	afc22b50-442d-4fde-93ce-df0c281205c9	g.chrX:150840185T>C	ENST00000370357.4	+	13	1616	c.1371T>C	c.(1369-1371)ggT>ggC	p.G457G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	457						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCTGTGGTTTATCTTTAT	0.478													T|||	1488	0.394172	0.062	0.2939	3775	,	,		15542	0.6448		0.164	False		,,,				2504	0.3957				p.G457G		.											.	PASD1-133	0			c.T1371C						.	T		405,3430		17,316,55,1299,516	122	106	111		1371	-1.9	0	X	dbSNP_116	111	1495,5233		113,850,419,1465,1453	no	coding-synonymous	PASD1	NM_173493.2		130,1166,474,2764,1969	CC,CT,C,TT,T		22.2206,10.5606,17.9873		457/774	150840185	1900,8663	2203	4300	6503	SO:0001819	synonymous_variant	139135	exon13			CTGTGGTTTATCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1371T>C	X.37:g.150840185T>C		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	87	6	NM_173493	0	0	0	0	0	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																			0|0.003;C|0.270		0.478	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150840185	T	C	150840185	2	2	51	1	0	0	0	0	0	0	0	1	11510	1712	60	4		4	PASD1	23	150840185	Silent	SNP	T	TCGA-OR-A5LD-01A-11D-A29I-10	84075024	150840185	4430375	111	10651											
TNFRSF25	8718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	6525618	6525618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagcaccaggaggagCgcctgggggacaggtgctgc	17	13	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:6525618C>T	ENST00000356876.3	-	2	129	c.42G>A	c.(40-42)gcG>gcA	p.A14A	TNFRSF25_ENST00000377782.3_Silent_p.A14A|TNFRSF25_ENST00000351959.5_Silent_p.A14A|TNFRSF25_ENST00000351748.3_Silent_p.A14A|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Silent_p.A14A	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	14					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGGAGGAGCGCCTGGGGGA	0.647																																					p.A14A		.											.	TNFRSF25-714	0			c.G42A						.						18	20	19					1																	6525618		2196	4297	6493	SO:0001819	synonymous_variant	8718	exon2			GAGGAGCGCCTGG	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.42G>A	1.37:g.6525618C>T		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	174	141	NM_148966	0	0	1	2	1	B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	CCDS71.1																																																																																			.		0.647	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		T	6525618	C	T	6525618	2	4	52	1	0	0	0	0	0	0	0	1	16343	755	27	1		1	TNFRSF25	1	6525618	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		6525618	242725003	1	10652											
KLHL21	9903	broad.mit.edu;bcgsc.ca	37	chr1	6659127	6659127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagtacatgagtccGtttagagtcgcagtcttggg	12	8	1	3	rs141078522		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:6659127G>A	ENST00000377658.4	-	2	1458	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	KLHL21_ENST00000463043.1_Silent_p.N102N|KLHL21_ENST00000377663.3_Silent_p.N469N|KLHL21_ENST00000467612.1_Silent_p.N102N	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	469					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		ACATGAGTCCGTTTAGAGTCG	0.592													G|||	1	0.000199681	0	0	5008	,	,		18521	0		0.001	False		,,,				2504	0				p.N469N		.											.	KLHL21-514	0			c.C1407T						.	G		0,4406		0,0,2203	31	32	32		1407	-6.8	0.7	1	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL21	NM_014851.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		469/598	6659127	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9903	exon2			GAGTCCGTTTAGA	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1407C>T	1.37:g.6659127G>A		Somatic	225	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_014851	0	0	6	6	0	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Silent	SNP	ENST00000377658.4	37	CCDS30575.1																																																																																			A|0.000;C|0.000;G|1.000		0.592	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		A	6659127	G	A	6659127	2	1	52	1	0	0	0	0	0	0	0	1	8403	1136	40	1		1	KLHL21	1	6659127	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	133509	6659127	242591494	2	10653											
SRM	6723	hgsc.bcm.edu	37	chr1	11119899	11119899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctccacctgcagTgacagggcctggccgggcca	14	15	0	1	rs7545802		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1	1	1	5008	,	,		7294	1		1	False		,,,				2504	1				p.S34S		.											.	SRM-90	0			c.A102G						.						8	10	10					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_003132	0	0	0	27	27	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		C	11119899	T	C	11119899	2	2	52	1	0	0	0	0	0	0	0	1	15198	1683	59	4		4	SRM	1	11119899	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	4460772	11119899	238130722	3	10654											
PRAMEF18	391003	broad.mit.edu	37	chr1	13474795	13474798	+	Frame_Shift_Del	DEL	CTTA	CTTA	-													agaagatcctgttgggctccCttacttccctcagtatacgc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:13474795_13474798delCTTA	ENST00000376126.2	-	3	1330_1333	c.1331_1334delTAAG	c.(1330-1335)gtaaggfs	p.VR444fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	444					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)					lung(2)|ovary(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)		GTTGGGCTCCCTTACTTCCCTCAG	0.554																																					p.444_445del		.											.	.	0			c.1331_1334del						.																																			SO:0001589	frameshift_variant	645414	exon3			GGCTCCCTTACTT			1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1331_1334delTAAG	1.37:g.13474795_13474798delCTTA	ENSP00000365294:p.Val444fs	Somatic	863	2		WXS	Illumina GAIIx	Phase_I	470	250	NM_001099790	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000376126.2	37	CCDS41258.1																																																																																			.		0.554	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		-	13474798	CTTA	-	13474795	7	5	52	1	0	1	0	1	0	0	0	0	12475	681	24	0	109	0	PRAMEF18	1	13474795	Frame_Shift_Del	DEL	CTTA	TCGA-OR-A5LJ-01A-11D-A29I-10	2354896	13474795	235775826	4	10655											
MFAP2	4237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	17302155	17302155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtagaagcagacctcGttgagacactgtttgcaagg	11	10	0	3	rs369256913		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:17302155G>A	ENST00000375535.3	-	7	646	c.357C>T	c.(355-357)aaC>aaT	p.N119N	MFAP2_ENST00000375534.3_Silent_p.N118N|MFAP2_ENST00000438542.1_Silent_p.N118N|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	119					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGACCTCGTTGAGACACT	0.617																																					p.N119N		.											.	MFAP2-514	0			c.C357T						.	G	,,,	0,4406		0,0,2203	110	92	98		354,354,357,357	-3.6	1	1		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MFAP2	NM_001135247.1,NM_001135248.1,NM_002403.3,NM_017459.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	118/183,118/183,119/184,119/184	17302155	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4237	exon7			GACCTCGTTGAGA	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.357C>T	1.37:g.17302155G>A		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	96	73	NM_017459	0	0	1	1	0	Q53X60|Q5JXY0	Silent	SNP	ENST00000375535.3	37	CCDS174.1																																																																																			.		0.617	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		A	17302155	G	A	17302155	2	1	52	1	0	0	0	0	0	0	0	1	9552	1136	40	1		1	MFAP2	1	17302155	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3827360	17302155	231948466	5	10656											
IGSF21	84966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	18691904	18691904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtgggcgaccctacaCggagcgcccctcccgtggcc	15	18	0	0	rs144142024	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:18691904C>T	ENST00000251296.1	+	6	1111	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	243						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGACCCTACACGGAGCGCCCC	0.637													C|||	5	0.000998403	0.0038	0	5008	,	,		17365	0		0	False		,,,				2504	0				p.T243M		.											.	IGSF21-156	0			c.C728T						.	C	MET/THR	6,4400	12.9+/-30.5	0,6,2197	81	89	86		728	5	1	1	dbSNP_134	86	0,8600		0,0,4300	yes	missense	IGSF21	NM_032880.4	81	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging	243/468	18691904	6,13000	2203	4300	6503	SO:0001583	missense	84966	exon6			CCTACACGGAGCG	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.728C>T	1.37:g.18691904C>T	ENSP00000251296:p.Thr243Met	Somatic	274	1		WXS	Illumina GAIIx	Phase_I	154	125	NM_032880	0	0	3	3	0	Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.117062	0.77323	0.001362	0.0	ENSG00000117154	ENST00000251296	T	0.56941	0.43	5.03	5.03	0.67393	.	0.046439	0.85682	N	0.000000	T	0.59715	0.2214	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64575	-0.6375	10	0.59425	D	0.04	-6.423	17.2657	0.87086	0.0:1.0:0.0:0.0	.	243	Q96ID5	IGS21_HUMAN	M	243	ENSP00000251296:T243M	ENSP00000251296:T243M	T	+	2	0	IGSF21	18564491	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.273000	0.65564	2.501000	0.84356	0.561000	0.74099	ACG	C|1.000;T|0.000		0.637	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18691904	C	T	18691904	3	4	52	1	0	0	0	0	1	0	0	0	7626	536	19	1	750	1	IGSF21	1	18691904	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1389749	18691904	230558717	6	10657											
KIAA0090	23065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	19545802	19545802	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctttgttctttatcGccaggcccgattcaggagct	9	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:19545802G>A	ENST00000477853.1	-	23	3019	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Nonsense_Mutation_p.R971*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.R992*	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	993						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTTCTTTATCGCCAGGCCCGA	0.507																																					p.R993X		.											.	.	0			c.C2977T						.						71	67	68					1																	19545802		2203	4300	6503	SO:0001587	stop_gained	23065	exon23			TTTATCGCCAGGC		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2977C>T	1.37:g.19545802G>A	ENSP00000420608:p.Arg993*	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	70	41	NM_015047	0	0	15	33	18	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Nonsense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.370882|7.370882	0.98241|0.98241	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|.	.|.	.|.	6.06|6.06	4.12|4.12	0.48240|0.48240	.|.	.|0.049774	.|0.85682	.|D	.|0.000000	T|.	0.49372|.	0.1553|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27905|.	-1.0060|.	4|.	.|0.11794	.|T	.|0.64	.|.	12.0734|12.0734	0.53630|0.53630	0.0:0.1312:0.7322:0.1365|0.0:0.1312:0.7322:0.1365	.|.	.|.	.|.	.|.	V|X	617|993;992;971	.|.	.|ENSP00000364345:R992X	A|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418389|19418389	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.973000|0.973000	0.67179|0.67179	5.288000|5.288000	0.65651|0.65651	0.823000|0.823000	0.34589|0.34589	0.650000|0.650000	0.86243|0.86243	GCG|CGA	.		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		A	19545802	G	A	19545802	4	1	52	1	0	0	0	0	0	1	0	0	8180	1095	38	1	8	1	KIAA0090	1	19545802	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	853898	19545802	229704819	7	10658											
EPHB2	2048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	23222940	23222940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctgactcggagtacacGgacaagctgcaacactacac	10	13	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:23222940G>A	ENST00000400191.3	+	9	1752	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.T573T|EPHB2_ENST00000374632.3_Silent_p.T579T|EPHB2_ENST00000374630.3_Silent_p.T578T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	578					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGAGTACACGGACAAGCTGC	0.597																																					p.T579T		.											.	EPHB2-1381	0			c.G1737A						.						133	117	122					1																	23222940		2203	4300	6503	SO:0001819	synonymous_variant	2048	exon9			GTACACGGACAAG	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1734G>A	1.37:g.23222940G>A		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	78	62	NM_004442	0	0	0	12	12	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																				.		0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23222940	G	A	23222940	2	1	52	1	0	0	0	0	0	0	0	1	5191	1103	39	1		1	EPHB2	1	23222940	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3677138	23222940	226027681	8	10659											
FUCA1	2517	hgsc.bcm.edu	37	chr1	24194748	24194748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcgcgggacccgccGgccgcgacctcatccccgga	13	19	1	0	rs2070956	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:24194748G>C	ENST00000374479.3	-	1	36	c.29C>G	c.(28-30)cCg>cGg	p.P10R		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	10			P -> R (in dbSNP:rs2070956).		fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GGGACCCGCCGGCCGCGACCT	0.736													G|||	716	0.142971	0.1218	0.121	5008	,	,		12585	0.2183		0.0905	False		,,,				2504	0.1636				p.P10R		.											.	FUCA1-153	0			c.C29G	GRCh37	CM970536	FUCA1	M	rs2070956	.						3	6	5					1																	24194748		1730	3580	5310	SO:0001583	missense	2517	exon1			CCCGCCGGCCGCG	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.29C>G	1.37:g.24194748G>C	ENSP00000363603:p.Pro10Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_000147	0	0	0	1	1	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	CCDS244.2	269	0.12316849816849818	45	0.09146341463414634	34	0.09392265193370165	121	0.21153846153846154	69	0.09102902374670185	G	18.98	3.737058	0.69304	.	.	ENSG00000179163	ENST00000374479	T	0.51325	0.71	5.12	-3.29	0.05017	.	1.547770	0.03557	N	0.226491	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.30193	0.272	B	0.17433	0.018	T	0.05084	-1.0907	9	0.20046	T	0.44	-0.6522	1.8223	0.03113	0.3695:0.2015:0.3158:0.1131	rs2070956;rs9662382;rs16828776;rs17523969;rs57279632	10	P04066	FUCO_HUMAN	R	10	ENSP00000363603:P10R	ENSP00000363603:P10R	P	-	2	0	FUCA1	24067335	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.012000	0.12699	-0.489000	0.06716	0.561000	0.74099	CCG	G|0.177;C|0.823		0.736	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		C	24194748	G	C	24194748	3	2	52	1	0	0	0	0	1	0	0	0	6118	1116	39	2	1403	2	FUCA1	1	24194748	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	971808	24194748	225055873	9	10660											
MYOM3	127294	broad.mit.edu	37	chr1	24407850	24407853	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													cattgtccactctttgcactCaaacaggctgctgggtgccg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:24407850_24407853delCAAA	ENST00000374434.3	-	19	2536_2539	c.2374_2377delTTTG	c.(2374-2379)tttgagfs	p.FE792fs	MYOM3_ENST00000330966.7_Frame_Shift_Del_p.FE793fs|MYOM3_ENST00000475306.1_5'Flank|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.FE792fs|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	792	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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)		TCTTTGCACTCAAACAGGCTGCTG	0.583																																					p.792_793del		.											.	MYOM3-93	0			c.2374_2377del						.																																			SO:0001589	frameshift_variant	127294	exon19			TGCACTCAAACAG	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.2374_2377delTTTG	1.37:g.24407850_24407853delCAAA	ENSP00000363557:p.Phe792fs	Somatic	504	0		WXS	Illumina GAIIx	Phase_I	322	11	NM_152372	0	0	0	0	0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Frame_Shift_Del	DEL	ENST00000374434.3	37	CCDS41281.1																																																																																			.		0.583	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		-	24407853	CAAA	-	24407850	7	5	52	1	0	1	0	1	0	0	0	0	10131	835	29	0	2012	0	MYOM3	1	24407850	Frame_Shift_Del	DEL	CAAA	TCGA-OR-A5LJ-01A-11D-A29I-10	213102	24407850	224842771	10	10661											
SEPN1	57190	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	26139207	26139207	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccgttcactgaggccttCgaccgagccaaggctgagaa	12	12	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:26139207C>T	ENST00000374315.1	+	9	1247	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SEPN1_ENST00000361547.2_Silent_p.F437F|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Silent_p.F403F	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	437						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|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;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCTTCGACCGAGCCA	0.622																																					.		.											.	SEPN1-92	0			.						.						41	45	43					1																	26139207		2039	4181	6220	SO:0001819	synonymous_variant	57190	.			GGCCTTCGACCGA	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1209C>T	1.37:g.26139207C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	62	50	.	0	0	1	12	11	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	CCDS41283.1																																																																																			.		0.622	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		T	26139207	C	T	26139207	2	4	52	1	0	0	0	0	0	0	0	1	14101	883	31	1		1	SEPN1	1	26139207	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1731357	26139207	223111414	11	10662											
CATSPER4	378807	broad.mit.edu	37	chr1	26527381	26527381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcattgtgtggtcgccCgctcggagaaatctggtctc	14	10	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:26527381C>T	ENST00000456354.2	+	8	1115	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	350					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGTCGCCCGCTCGGAGAA	0.602																																					p.R350C		.											.	CATSPER4-91	0			c.C1048T						.						56	58	57					1																	26527381		2203	4300	6503	SO:0001583	missense	378807	exon8			GTCGCCCGCTCGG	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1048C>T	1.37:g.26527381C>T	ENSP00000390423:p.Arg350Cys	Somatic	210	1		WXS	Illumina GAIIx	Phase_I	147	5	NM_198137	0	0	0	0	0	A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057794	0.55325	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97620	-4.46;-4.45	3.83	0.61	0.17580	.	0.607232	0.14284	N	0.329355	D	0.96558	0.8877	L	0.59436	1.845	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	P;D	0.63703	0.828;0.917	D	0.90095	0.4180	10	0.72032	D	0.01	-2.6829	2.6883	0.05113	0.2275:0.5209:0.0:0.2517	.	350;334	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	C	350	ENSP00000341006:R350C;ENSP00000390423:R350C	ENSP00000341006:R350C	R	+	1	0	CATSPER4	26399968	0.826000	0.29277	0.152000	0.22495	0.122000	0.20287	0.605000	0.24179	0.404000	0.25506	0.313000	0.20887	CGC	.		0.602	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		T	26527381	C	T	26527381	3	4	52	1	0	0	0	0	1	0	0	0	2697	652	23	1	1078	1	CATSPER4	1	26527381	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	388174	26527381	222723240	12	10663											
C1orf172	126695	bcgsc.ca	37	chr1	27277925	27277925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgagttgaacgaccctccGaggtctgtgggcgagcacgg	15	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:27277925G>A	ENST00000320567.5	-	2	1035	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		316					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)		ACGACCCTCCGAGGTCTGTGG	0.632																																					p.S316L		.											.	C1orf172-154	0			c.C947T						.						37	38	38					1																	27277925		2203	4300	6503	SO:0001583	missense	126695	exon2			CCCTCCGAGGTCT																												ENST00000320567.5:c.947C>T	1.37:g.27277925G>A	ENSP00000319179:p.Ser316Leu	Somatic	265	0		WXS	Illumina GAIIx	Phase_I	199	7	NM_152365	0	0	0	0	0	Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	4.657	0.122238	0.08931	.	.	ENSG00000175707	ENST00000320567	T	0.20881	2.04	5.29	2.3	0.28687	.	1.032600	0.07649	N	0.931579	T	0.10895	0.0266	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36163	-0.9759	10	0.25106	T	0.35	.	2.7392	0.05249	0.1631:0.1323:0.5515:0.1531	.	316	Q8NAX2	CA172_HUMAN	L	316	ENSP00000319179:S316L	ENSP00000319179:S316L	S	-	2	0	C1orf172	27150512	0.590000	0.26815	0.327000	0.25402	0.380000	0.30137	1.510000	0.35790	0.628000	0.30357	-0.263000	0.10527	TCG	.		0.632	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			A	27277925	G	A	27277925	3	1	52	1	0	0	0	0	1	0	0	0	2020	1059	37	1	261	1	C1orf172	1	27277925	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	750544	27277925	221972696	13	10664											
RBBP4	5928	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	33134949	33134949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcttgccacaggatcAgctgacaaggtcagtttcgt	9	10	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:33134949A>G	ENST00000373493.5	+	7	1038	c.879A>G	c.(877-879)tcA>tcG	p.S293S	RBBP4_ENST00000458695.2_Silent_p.S258S|RBBP4_ENST00000414241.3_Silent_p.S292S|RBBP4_ENST00000544435.1_Silent_p.S41S|RBBP4_ENST00000373485.1_Silent_p.S293S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	293					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCACAGGATCAGCTGACAAGG	0.338																																					p.S293S		.											.	RBBP4-227	0			c.A879G						.						74	73	73					1																	33134949		2203	4300	6503	SO:0001819	synonymous_variant	5928	exon7			AGGATCAGCTGAC	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.879A>G	1.37:g.33134949A>G		Somatic	143	2		WXS	Illumina GAIIx	Phase_I	100	87	NM_005610	0	0	0	0	0	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.977|8.977	0.974303|0.974303	0.18736|0.18736	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000463378|ENST00000475321	.|T	.|0.70986	.|-0.53	5.27|5.27	-1.81|-1.81	0.07882|0.07882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69450|0.69450	0.3112|0.3112	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64525|0.64525	-0.6387|-0.6387	4|7	.|0.59425	.|D	.|0.04	.|.	6.1917|6.1917	0.20528|0.20528	0.5973:0.1229:0.2799:0.0|0.5973:0.1229:0.2799:0.0	.|.	.|.	.|.	.|.	R|G	53|96	.|ENSP00000436986:S96G	.|ENSP00000436986:S96G	Q|S	+|+	2|1	0|0	RBBP4|RBBP4	32907536|32907536	0.967000|0.967000	0.33354|0.33354	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	0.238000|0.238000	0.18004|0.18004	-0.496000|-0.496000	0.06650|0.06650	0.482000|0.482000	0.46254|0.46254	CAG|AGC	.		0.338	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		G	33134949	A	G	33134949	2	3	52	1	0	0	0	0	0	0	0	1	13146	175	7	4		4	RBBP4	1	33134949	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	5857024	33134949	216115672	14	10665											
DLGAP3	58512	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	35365799	35365799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctttgatgtagctgcCgctccgcatcctgcggcagg	13	13	0	1	rs140339373		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:35365799C>T	ENST00000373347.1	-	4	1451	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G395S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	395					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)				ATGTAGCTGCCGCTCCGCATC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17563	0.001		0	False		,,,				2504	0				p.G395S		.											.	DLGAP3-71	0			c.G1183A						.						100	99	99					1																	35365799		2203	4300	6503	SO:0001583	missense	58512	exon2			AGCTGCCGCTCCG	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.1183G>A	1.37:g.35365799C>T	ENSP00000362444:p.Gly395Ser	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	95	7	NM_001080418	0	0	3	4	1	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.112117	0.94339	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.23348	1.91;1.91	4.44	4.44	0.53790	.	0.053869	0.85682	D	0.000000	T	0.45558	0.1348	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.44877	-0.9299	10	0.62326	D	0.03	-16.0822	17.2399	0.87010	0.0:1.0:0.0:0.0	.	395	O95886	DLGP3_HUMAN	S	395;395;78	ENSP00000362444:G395S;ENSP00000235180:G395S	ENSP00000235180:G395S	G	-	1	0	DLGAP3	35138386	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.584000	0.82572	2.296000	0.77279	0.313000	0.20887	GGC	C|0.999;T|0.000		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35365799	C	T	35365799	3	4	52	1	0	0	0	0	1	0	0	0	4575	652	23	1	1792	1	DLGAP3	1	35365799	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2230850	35365799	213884822	15	10666											
KIAA0754	643314	broad.mit.edu	37	chr1	39879079	39879079	+	Frame_Shift_Del	DEL	A	A	-													ccccagctgctgcagtgcccAccccagaggagcccacctcc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:39879079delA	ENST00000530275.1	+	1	2929	c.2734delA	c.(2734-2736)accfs	p.T912fs	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	912	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)			TGCAGTGCCCACCCCAGAGGA	0.726																																					p.T1048fs		.											.	.	0			c.3142delA						.		,,	10,2388		2,6,1191	2	2	2		,,	-3.9	0	1		2	36,5528		14,8,2760	no	intron,frameshift,intron	MACF1,KIAA0754	NM_033044.3,NM_015038.1,NM_012090.4	,,	16,14,3951	A1A1,A1R,RR		0.647,0.417,0.5777	,,	,,	39879079	46,7916	1274	2978	4252	SO:0001589	frameshift_variant	643314	exon1			GTGCCCACCCCAG			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.2734delA	1.37:g.39879079delA	ENSP00000431179:p.Thr912fs	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	22	9	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Frame_Shift_Del	DEL	ENST00000530275.1	37																																																																																				.		0.726	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		-	39879079	A	-	39879079	7	5	52	1	0	1	0	1	0	0	0	0	8219	159	6	0	3144	0	KIAA0754	1	39879079	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	4513280	39879079	209371542	16	10667											
BMP8B	656	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	40230376	40230376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagtggcctcactgcccGaggggtgcggatgggactcg	16	13	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:40230376G>A	ENST00000372827.3	-	4	1162	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	BMP8B_ENST00000397360.2_Missense_Mutation_p.R288W	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	263					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCACTGCCCGAGGGGTGCGG	0.662																																					p.R263W		.											.	BMP8B-91	0			c.C787T						.						60	65	63					1																	40230376		2199	4298	6497	SO:0001583	missense	656	exon4			CTGCCCGAGGGGT	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.787C>T	1.37:g.40230376G>A	ENSP00000361915:p.Arg263Trp	Somatic	1460	0		WXS	Illumina GAIIx	Phase_I	996	157	NM_001720	0	0	0	0	0	E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	CCDS444.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	T;D	0.82803	-1.21;-1.65	3.86	1.83	0.25207	.	.	.	.	.	D	0.87505	0.6194	M	0.68952	2.095	0.38659	D	0.95203	D;D	0.89917	1.0;1.0	D;P	0.79784	0.993;0.847	D	0.86693	0.1924	9	0.87932	D	0	.	7.187	0.25804	0.0957:0.0:0.7367:0.1676	.	288;263	E7EMY8;P34820	.;BMP8B_HUMAN	W	263;288	ENSP00000361915:R263W;ENSP00000380518:R288W	ENSP00000361915:R263W	R	-	1	2	BMP8B	40002963	1.000000	0.71417	0.047000	0.18901	0.239000	0.25481	5.713000	0.68415	0.840000	0.34995	0.558000	0.71614	CGG	.		0.662	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		A	40230376	G	A	40230376	3	1	52	1	0	0	0	0	1	0	0	0	1469	1057	37	1	437	1	BMP8B	1	40230376	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	351297	40230376	209020245	17	10668											
FOXJ3	22887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	42657281	42657281	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgactgttggacagGctgctttggttgctgtgtgg	15	8	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:42657281G>C	ENST00000372572.1	-	11	1355	c.1044C>G	c.(1042-1044)agC>agG	p.S348R	FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361776.1_Missense_Mutation_p.S314R|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S348R|FOXJ3_ENST00000372573.1_Missense_Mutation_p.S348R|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S348R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	348					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTTGGACAGGCTGCTTTGGT	0.542																																					p.S348R		.											.	FOXJ3-228	0			c.C1044G						.						388	313	338					1																	42657281		2203	4300	6503	SO:0001583	missense	22887	exon11			GGACAGGCTGCTT	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1044C>G	1.37:g.42657281G>C	ENSP00000361653:p.Ser348Arg	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	169	144	NM_001198851	0	0	0	6	6	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636968	0.47049	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.31	2.42	0.29668	.	1.248540	0.05626	N	0.580831	T	0.25382	0.0617	N	0.08118	0	0.30403	N	0.779815	B;B	0.16603	0.018;0.01	B;B	0.18871	0.023;0.01	T	0.30621	-0.9972	10	0.25106	T	0.35	.	9.1487	0.36948	0.2422:0.0:0.7578:0.0	.	314;348	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	R	348;348;348;314;348;314	ENSP00000361654:S348R;ENSP00000361653:S348R;ENSP00000354620:S348R;ENSP00000354449:S314R;ENSP00000439044:S348R;ENSP00000393408:S314R	ENSP00000354620:S348R	S	-	3	2	FOXJ3	42429868	0.997000	0.39634	0.920000	0.36463	0.995000	0.86356	1.477000	0.35431	0.331000	0.23511	0.555000	0.69702	AGC	.		0.542	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		C	42657281	G	C	42657281	3	2	52	1	0	0	0	0	1	0	0	0	6037	1194	42	3	844	3	FOXJ3	1	42657281	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2426905	42657281	206593340	18	10669											
LRRC41	10489	broad.mit.edu;bcgsc.ca	37	chr1	46751559	46751559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctgtgtgctccggcGtgttacccgagtggcaggtg	15	12	1	0	rs145805978		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:46751559G>A	ENST00000343304.6	-	4	1255	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	324					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.R324C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGCTCCGGCGTGTTACCCGA	0.647																																					p.R324C		.											.	LRRC41-156	1	Substitution - Missense(1)	endometrium(1)	c.C970T						.	G	CYS/ARG	0,4406		0,0,2203	34	35	35		970	3	1	1	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC41	NM_006369.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	324/813	46751559	1,13005	2203	4300	6503	SO:0001583	missense	10489	exon4			TCCGGCGTGTTAC	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.970C>T	1.37:g.46751559G>A	ENSP00000343298:p.Arg324Cys	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	48	5	NM_006369	0	0	16	17	1	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	g	16.40	3.113184	0.56398	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972;ENST00000254454	T	0.49432	0.78	5.02	3.02	0.34903	.	0.304267	0.27591	N	0.018697	T	0.39145	0.1067	N	0.08118	0	0.35866	D	0.827881	D;D;D	0.76494	0.999;0.999;0.985	P;P;P	0.62382	0.764;0.901;0.682	T	0.49753	-0.8906	10	0.87932	D	0	-22.6798	5.8359	0.18607	0.1044:0.1973:0.6984:0.0	.	324;302;324	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	C	324;302;153	ENSP00000343298:R324C	ENSP00000254454:R153C	R	-	1	0	LRRC41	46524146	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	1.900000	0.39828	2.505000	0.84491	0.450000	0.29827	CGC	G|1.000;A|0.000		0.647	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		A	46751559	G	A	46751559	3	1	52	1	0	0	0	0	1	0	0	0	9034	1145	40	1	1496	1	LRRC41	1	46751559	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4094278	46751559	202499062	19	10670											
C1orf87	127795	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	60456488	60456488	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaggcgtctggctcGttccttctccagaactcctg	11	12	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:60456488G>A	ENST00000371201.3	-	12	1605	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	C1orf87_ENST00000450089.2_Nonsense_Mutation_p.R271*|C1orf87_ENST00000395552.1_Nonsense_Mutation_p.R134*|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	500							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CGTCTGGCTCGTTCCTTCTCC	0.453																																					p.R500X	NSCLC(75;811 1386 4923 13371 51772)	.											.	C1orf87-154	0			c.C1498T						.						214	222	219					1																	60456488		2203	4300	6503	SO:0001587	stop_gained	127795	exon12			TGGCTCGTTCCTT	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1498C>T	1.37:g.60456488G>A	ENSP00000360244:p.Arg500*	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	64	35	NM_152377	0	0	0	0	0	Q6ZU07|Q8IVS0	Nonsense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115971	0.56505	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	.	.	.	4.61	1.39	0.22231	.	0.000000	0.41605	D	0.000857	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7103	12.8217	0.57696	0.0:0.0:0.4973:0.5026	.	.	.	.	X	500;134	.	ENSP00000360244:R500X	R	-	1	2	C1orf87	60229076	0.005000	0.15991	0.995000	0.50966	0.993000	0.82548	-0.224000	0.09164	0.492000	0.27815	0.563000	0.77884	CGA	.		0.453	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		A	60456488	G	A	60456488	4	1	52	1	0	0	0	0	0	1	0	0	2071	1153	40	1	146	1	C1orf87	1	60456488	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	13704929	60456488	188794133	20	10671											
C1orf87	127795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	60463390	60463390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagctggattcacgaagggCtgggagactggcctgatctt	14	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:60463390C>G	ENST00000371201.3	-	11	1478	c.1371G>C	c.(1369-1371)caG>caC	p.Q457H	C1orf87_ENST00000450089.2_Missense_Mutation_p.Q228H|C1orf87_ENST00000395552.1_Missense_Mutation_p.Q91H|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	457							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCACGAAGGGCTGGGAGACTG	0.498																																					p.Q457H	NSCLC(75;811 1386 4923 13371 51772)	.											.	C1orf87-154	0			c.G1371C						.						116	113	114					1																	60463390		2203	4300	6503	SO:0001583	missense	127795	exon11			GAAGGGCTGGGAG	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1371G>C	1.37:g.60463390C>G	ENSP00000360244:p.Gln457His	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	85	73	NM_152377	0	0	0	0	0	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250685	0.39797	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.36699	1.97;1.24	5.49	4.58	0.56647	.	0.143117	0.32548	N	0.005954	T	0.49626	0.1568	L	0.59436	1.845	0.35445	D	0.795197	D	0.69078	0.997	D	0.63877	0.919	T	0.62286	-0.6886	10	0.66056	D	0.02	-4.2288	8.14	0.31078	0.0:0.8251:0.0:0.1749	.	457	Q8N0U7	CA087_HUMAN	H	457;91;228	ENSP00000360244:Q457H;ENSP00000378921:Q91H	ENSP00000360244:Q457H	Q	-	3	2	C1orf87	60235978	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	1.267000	0.33050	1.544000	0.49359	0.650000	0.86243	CAG	.		0.498	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		G	60463390	C	G	60463390	3	3	52	1	0	0	0	0	1	0	0	0	2071	796	28	3	277	3	C1orf87	1	60463390	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6902	60463390	188787231	21	10672											
FOXD3	27022	hgsc.bcm.edu;broad.mit.edu	37	chr1	63789205	63789207	+	In_Frame_Del	DEL	AGA	AGA	-													ggccatcctgcagagcccgcAgaagaagctgaccctgagcg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:63789205_63789207delAGA	ENST00000371116.2	+	1	476_478	c.476_478delAGA	c.(475-480)cagaag>cag	p.K161del	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	161					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q159Q(1)		breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAGAGCCCGCAGAAGAAGCTGAC	0.616																																					p.159_160del	Pancreas(68;276 1750 11966 31252)	.											.	FOXD3-226	1	Substitution - coding silent(1)	breast(1)	c.476_478del						.																																			SO:0001651	inframe_deletion	27022	exon1			GCCCGCAGAAGAA	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.476_478delAGA	1.37:g.63789208_63789210delAGA	ENSP00000360157:p.Lys161del	Somatic	301	0		WXS	Illumina GAIIx	Phase_I	209	20	NM_012183	0	0	0	0	0	Q9BYM2|Q9UDD1	In_Frame_Del	DEL	ENST00000371116.2	37	CCDS624.1																																																																																			.		0.616	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			-	63789207	AGA	-	63789205	7	5	52	1	0	1	0	1	0	0	0	0	6020	188	7	0	478	0	FOXD3	1	63789205	In_Frame_Del	DEL	AGA	TCGA-OR-A5LJ-01A-11D-A29I-10	3325815	63789205	185461416	22	10673											
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67155933	67155933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatagcacccttagcgCgggctgaaagcacttcttca	8	14	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:67155933C>T	ENST00000371037.4	+	17	1581	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	SGIP1_ENST00000371036.3_Missense_Mutation_p.R302W|SGIP1_ENST00000371039.1_Missense_Mutation_p.R303W|SGIP1_ENST00000237247.6_Missense_Mutation_p.R533W|SGIP1_ENST00000371035.3_Missense_Mutation_p.R292W	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	502					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACCCTTAGCGCGGGCTGAAAG	0.458																																					p.R502W		.											.	SGIP1-93	0			c.C1504T						.						159	153	155					1																	67155933		2203	4300	6503	SO:0001583	missense	84251	exon17			TTAGCGCGGGCTG	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1504C>T	1.37:g.67155933C>T	ENSP00000360076:p.Arg502Trp	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	73	61	NM_032291	0	0	0	0	0	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829372	0.90955	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	M	0.72894	2.215	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.982;0.982;0.993	T	0.00371	-1.1782	10	0.87932	D	0	-11.8746	20.5792	0.99380	0.0:1.0:0.0:0.0	.	532;102;292;502	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	W	533;303;292;532;505;302;502	ENSP00000237247:R533W;ENSP00000360078:R303W;ENSP00000360074:R292W;ENSP00000360075:R302W;ENSP00000360076:R502W	ENSP00000237247:R533W	R	+	1	2	SGIP1	66928521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.554000	0.60760	2.873000	0.98535	0.561000	0.74099	CGG	.		0.458	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		T	67155933	C	T	67155933	3	4	52	1	0	0	0	0	1	0	0	0	14251	759	27	1	1570	1	SGIP1	1	67155933	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3366728	67155933	182094688	23	10674											
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	67195022	67195022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacactttgccaacaacccGtccccagctgctctgacttt	6	16	1	2	rs150154953	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:67195022G>A	ENST00000371037.4	+	20	1895	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	SGIP1_ENST00000371036.3_Silent_p.P408P|SGIP1_ENST00000371039.1_Silent_p.P409P|SGIP1_ENST00000435165.2_Silent_p.P111P|SGIP1_ENST00000237247.6_Silent_p.P637P|SGIP1_ENST00000371035.3_Silent_p.P396P|AL354978.1_ENST00000408728.2_RNA	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	606	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCAACAACCCGTCCCCAGCTG	0.453													G|||	2	0.000399361	0	0	5008	,	,		19006	0.002		0	False		,,,				2504	0				p.P606P		.											.	SGIP1-93	0			c.G1818A						.	G		3,4403	6.2+/-15.9	0,3,2200	120	116	117		1818	-7.7	0.9	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SGIP1	NM_032291.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		606/829	67195022	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	84251	exon20			CAACCCGTCCCCA	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1818G>A	1.37:g.67195022G>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	146	107	NM_032291	0	0	1	1	0	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																			G|0.999;A|0.001		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67195022	G	A	67195022	2	1	52	1	0	0	0	0	0	0	0	1	14251	1132	40	1		1	SGIP1	1	67195022	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	39089	67195022	182055599	24	10675											
SEP15	9403	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	87369102	87369102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaactctctgcatgcctcCgatgaaaactctgccccaaa	5	16	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:87369102C>T	ENST00000331835.5	-	2	367	c.105G>A	c.(103-105)tcG>tcA	p.S35S	SEP15_ENST00000370554.1_Silent_p.S35S|SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000401030.3_Silent_p.S35S	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		35					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		TGCATGCCTCCGATGAAAACT	0.413																																					.		.											.	SEP15-68	0			.						.						38	35	36					1																	87369102		1871	4103	5974	SO:0001819	synonymous_variant	0	.			TGCCTCCGATGAA																												ENST00000331835.5:c.105G>A	1.37:g.87369102C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	87	75	.	0	0	4	53	49	Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Silent	SNP	ENST00000331835.5	37																																																																																				.		0.413	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			T	87369102	C	T	87369102	2	4	52	1	0	0	0	0	0	0	0	1	14098	639	23	1		1	SEP15	1	87369102	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	20174080	87369102	161881519	25	10676											
LPPR5	163404	broad.mit.edu	37	chr1	99470095	99470097	+	In_Frame_Del	DEL	AGA	AGA	-													gcggtaggcgctgtcgtggcAgaagaagccctgcacgttca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:99470095_99470097delAGA	ENST00000263177.4	-	1	352_354	c.131_133delTCT	c.(130-135)ttctgc>tgc	p.F44del	LPPR5_ENST00000370188.3_In_Frame_Del_p.F44del|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'Flank	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		44						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CTGTCGTGGCAGAAGAAGCCCTG	0.635																																					p.44_45del		.											.	.	0			c.131_133del						.																																			SO:0001651	inframe_deletion	0	exon1			CGTGGCAGAAGAA																												ENST00000263177.4:c.131_133delTCT	1.37:g.99470098_99470100delAGA	ENSP00000263177:p.Phe44del	Somatic	290	0		WXS	Illumina GAIIx	Phase_I	234	8	NM_001010861	0	0	0	0	0	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	In_Frame_Del	DEL	ENST00000263177.4	37	CCDS30778.1																																																																																			.		0.635	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			-	99470097	AGA	-	99470095	7	5	52	1	0	1	0	1	0	0	0	0	8963	188	7	0	856	0	LPPR5	1	99470095	In_Frame_Del	DEL	AGA	TCGA-OR-A5LJ-01A-11D-A29I-10	12100993	99470095	149780526	26	10677											
KCNC4	3749	bcgsc.ca	37	chr1	110766454	110766454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaggagacttccccccGggacagcacctgcagtgata	12	13	1	3	rs59123361	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:110766454G>A	ENST00000369787.3	+	2	1574	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	KCNC4_ENST00000413138.3_Missense_Mutation_p.R516Q|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R516Q	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	516			R -> Q (in dbSNP:rs59123361).		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACTTCCCCCCGGGACAGCACC	0.597													G|||	252	0.0503195	0.0265	0.0821	5008	,	,		19747	0.0437		0.0924	False		,,,				2504	0.0235				p.R516Q		.											.	KCNC4-154	0			c.G1547A						.	G	GLN/ARG,GLN/ARG	162,4244	108.2+/-146.6	5,152,2046	61	67	65		1547,1547	4.9	1	1	dbSNP_129	65	905,7695	201.7+/-245.1	39,827,3434	yes	missense,missense	KCNC4	NM_001039574.2,NM_004978.4	43,43	44,979,5480	AA,AG,GG		10.5233,3.6768,8.2039	possibly-damaging,possibly-damaging	516/627,516/636	110766454	1067,11939	2203	4300	6503	SO:0001583	missense	3749	exon2			CCCCCCGGGACAG	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1547G>A	1.37:g.110766454G>A	ENSP00000358802:p.Arg516Gln	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_001039574	0	0	4	4	0	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	144	0.06593406593406594	17	0.034552845528455285	29	0.08011049723756906	32	0.055944055944055944	66	0.0870712401055409	G	13.48	2.248558	0.39797	0.036768	0.105233	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97089	-4.24;-4.24;-4.24	4.89	4.89	0.63831	.	2.419330	0.01441	N	0.015100	D	0.94775	0.8313	L	0.50333	1.59	0.42263	D	0.992025	B;B;P	0.45569	0.143;0.338;0.861	B;B;P	0.46917	0.014;0.03;0.531	D	0.85354	0.1103	10	0.14252	T	0.57	.	12.5188	0.56048	0.0828:0.0:0.9172:0.0	rs59123361;rs61747371	516;516;516	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	Q	516	ENSP00000358802:R516Q;ENSP00000388029:R516Q;ENSP00000393655:R516Q	ENSP00000358802:R516Q	R	+	2	0	KCNC4	110567977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.299000	0.51826	2.422000	0.82143	0.462000	0.41574	CGG	G|0.919;A|0.081		0.597	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110766454	G	A	110766454	3	1	52	1	0	0	0	0	1	0	0	0	8044	1116	39	1	1553	1	KCNC4	1	110766454	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	11296359	110766454	138484167	27	10678											
OLFML3	56944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	114524270	114524270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactcccttattttccccGcagatatggtgcccatgcca	7	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:114524270G>A	ENST00000320334.4	+	3	1174	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	OLFML3_ENST00000393300.2_Missense_Mutation_p.R347H|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Missense_Mutation_p.R347H	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTTTCCCCGCAGATATGGT	0.587																																					p.R367H		.											.	OLFML3-68	0			c.G1100A						.						56	57	57					1																	114524270		2203	4300	6503	SO:0001583	missense	56944	exon3			TTCCCCGCAGATA	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1100G>A	1.37:g.114524270G>A	ENSP00000322273:p.Arg367His	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	85	11	NM_020190	0	0	0	0	0	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846626	0.71603	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.89270	-2.49;-2.49;-2.49	5.96	5.96	0.96718	Olfactomedin-like (3);	0.047980	0.85682	D	0.000000	D	0.89455	0.6720	L	0.55481	1.735	0.35813	D	0.824015	D;D	0.89917	1.0;0.999	D;D	0.66847	0.938;0.947	D	0.90559	0.4514	10	0.59425	D	0.04	.	8.219	0.31530	0.1862:0.0:0.8138:0.0	.	347;367	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	H	347;367;347	ENSP00000358564:R347H;ENSP00000322273:R367H;ENSP00000376977:R347H	ENSP00000322273:R367H	R	+	2	0	OLFML3	114325793	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.835000	0.62781	2.813000	0.96785	0.655000	0.94253	CGC	.		0.587	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		A	114524270	G	A	114524270	3	1	52	1	0	0	0	0	1	0	0	0	10898	1087	38	1	1110	1	OLFML3	1	114524270	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3757816	114524270	134726351	28	10679											
TSPAN2	10100	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115615562	115615562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggacttgtcctctgatgAtaactcctttatggcacctc	9	11	1	2	rs199774469		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:115615562A>G	ENST00000369516.2	-	2	167	c.136T>C	c.(136-138)Tca>Cca	p.S46P	TSPAN2_ENST00000369514.2_Missense_Mutation_p.S46P|TSPAN2_ENST00000369515.2_Missense_Mutation_p.S46P	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	46					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCTCTGATGATAACTCCTTT	0.502																																					p.S46P		.											.	TSPAN2-226	0			c.T136C						.						129	116	120					1																	115615562		2203	4300	6503	SO:0001583	missense	10100	exon2			CTGATGATAACTC	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.136T>C	1.37:g.115615562A>G	ENSP00000358529:p.Ser46Pro	Somatic	127	2		WXS	Illumina GAIIx	Phase_I	97	75	NM_005725	0	0	0	0	0	D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	CCDS881.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642827	0.67244	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.56	1.9	0.25705	.	0.962703	0.08676	N	0.910199	T	0.71213	0.3313	L	0.55990	1.75	0.29662	N	0.843155	D	0.54601	0.967	P	0.55260	0.772	T	0.57171	-0.7857	10	0.40728	T	0.16	.	4.8762	0.13656	0.5374:0.3011:0.1615:0.0	.	46	O60636	TSN2_HUMAN	P	46;46;40;46	ENSP00000358529:S46P;ENSP00000358528:S46P;ENSP00000415256:S40P;ENSP00000358527:S46P	ENSP00000358527:S46P	S	-	1	0	TSPAN2	115417085	0.992000	0.36948	0.951000	0.38953	0.879000	0.50718	1.822000	0.39052	0.064000	0.16427	-0.264000	0.10439	TCA	A|0.999;G|0.001		0.502	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		G	115615562	A	G	115615562	3	3	52	1	0	0	0	0	1	0	0	0	16692	333	12	4	557	4	TSPAN2	1	115615562	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1091292	115615562	133635059	29	10680											
THEM4	117145	hgsc.bcm.edu	37	chr1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcctactggcggcAggcacagagcccccagcgtg	16	16	0	1	rs3748805	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1	1	1					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_053055	0	0	0	1	1	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		C	151881885	A	C	151881885	3	2	52	1	0	0	0	0	1	0	0	0	15905	188	7	5	696	5	THEM4	1	151881885	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	36266323	151881885	97368736	30	10681											
RPTN	126638	bcgsc.ca	37	chr1	152128212	152128212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaactctggccttgtctgtCtgtctgaccatagtgggaat	12	9	4	1	rs143744326	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:152128212C>G	ENST00000316073.3	-	3	1427	c.1363G>C	c.(1363-1365)Gac>Cac	p.D455H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	455	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTGTCTGTCTGACCA	0.537													C|||	54	0.0107827	0.0015	0.0259	5008	,	,		24971	0		0.0219	False		,,,				2504	0.0123				p.D455H		.											.	RPTN-68	0			c.G1363C						.	C	HIS/ASP	22,3114		0,22,1546	792	699	727		1363	2.5	0	1	dbSNP_134	727	255,6909		6,243,3333	no	missense	RPTN	NM_001122965.1	81	6,265,4879	GG,GC,CC		3.5595,0.7015,2.6893	benign	455/785	152128212	277,10023	1568	3582	5150	SO:0001583	missense	126638	exon3			GTCTGTCTGTCTG	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.1363G>C	1.37:g.152128212C>G	ENSP00000317895:p.Asp455His	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	187	6	NM_001122965	0	0	0	0	0	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	22	0.010073260073260074	0	0.0	9	0.024861878453038673	0	0.0	13	0.017150395778364115	C	12.18	1.860533	0.32884	0.007015	0.035595	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12465	2.68	5.32	2.46	0.29980	.	.	.	.	.	T	0.09730	0.0239	M	0.84683	2.71	0.09310	N	1	P	0.51057	0.941	B	0.43360	0.417	T	0.12863	-1.0531	9	0.38643	T	0.18	-1.5611	9.003	0.36094	0.0:0.7547:0.0:0.2453	.	455	Q6XPR3	RPTN_HUMAN	H	455;110	ENSP00000317895:D455H	ENSP00000317895:D455H	D	-	1	0	RPTN	150394836	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.198000	0.17217	0.254000	0.21573	-0.315000	0.08773	GAC	C|0.978;G|0.022		0.537	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		G	152128212	C	G	152128212	3	3	52	1	0	0	0	0	1	0	0	0	13709	913	32	3	995	3	RPTN	1	152128212	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	246327	152128212	97122409	31	10682											
LCE2B	26239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152659333	152659333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggatgtcttgccagcAaaaccagcagcagtgccagc	11	13	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:152659333A>G	ENST00000368780.3	+	2	68	c.14A>G	c.(13-15)cAa>cGa	p.Q5R	LCE2B_ENST00000417924.2_Missense_Mutation_p.Q5R	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	5	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGCCAGCAAAACCAGCAG	0.458																																					p.Q5R		.											.	LCE2B-92	0			c.A14G						.						105	106	105					1																	152659333		2203	4300	6503	SO:0001583	missense	26239	exon2			GCCAGCAAAACCA	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.14A>G	1.37:g.152659333A>G	ENSP00000357769:p.Gln5Arg	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	80	69	NM_014357	0	0	0	0	0	Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	A	8.545	0.874274	0.17395	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.06449	3.3;3.3	2.46	2.46	0.29980	.	.	.	.	.	T	0.13927	0.0337	M	0.88105	2.93	0.21256	N	0.999749	P	0.51449	0.945	D	0.67900	0.954	T	0.05194	-1.0900	9	0.87932	D	0	.	6.705	0.23246	1.0:0.0:0.0:0.0	.	5	O14633	LCE2B_HUMAN	R	5	ENSP00000414043:Q5R;ENSP00000357769:Q5R	ENSP00000357769:Q5R	Q	+	2	0	LCE2B	150925957	0.989000	0.36119	0.986000	0.45419	0.924000	0.55760	2.223000	0.42936	1.118000	0.41863	0.260000	0.18958	CAA	.		0.458	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		G	152659333	A	G	152659333	3	3	52	1	0	0	0	0	1	0	0	0	8694	130	5	4	16	4	LCE2B	1	152659333	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	531121	152659333	96591288	32	10683											
HCN3	57657	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155257602	155257602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatactgcagcggaagcGctccgagccaagtccaggca	11	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:155257602G>A	ENST00000368358.3	+	8	1681	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	558					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCGGAAGCGCTCCGAGCCA	0.552																																					p.R558H		.											.	HCN3-154	0			c.G1673A						.						53	58	56					1																	155257602		2203	4300	6503	SO:0001583	missense	57657	exon8			GGAAGCGCTCCGA	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1673G>A	1.37:g.155257602G>A	ENSP00000357342:p.Arg558His	Somatic	456	1		WXS	Illumina GAIIx	Phase_I	254	39	NM_020897	0	0	8	8	0	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659403	0.67586	.	.	ENSG00000143630	ENST00000368358	T	0.42131	0.98	4.91	2.98	0.34508	.	0.122998	0.37530	N	0.002051	T	0.14013	0.0339	N	0.14661	0.345	0.37330	D	0.909946	P;P	0.52316	0.716;0.952	B;P	0.45099	0.298;0.469	T	0.03043	-1.1079	10	0.42905	T	0.14	.	8.235	0.31620	0.0884:0.1596:0.752:0.0	.	253;558	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	H	558	ENSP00000357342:R558H	ENSP00000357342:R558H	R	+	2	0	HCN3	153524226	0.638000	0.27225	1.000000	0.80357	0.929000	0.56500	1.153000	0.31676	0.740000	0.32651	0.557000	0.71058	CGC	.		0.552	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		A	155257602	G	A	155257602	3	1	52	1	0	0	0	0	1	0	0	0	7025	1087	38	1	1703	1	HCN3	1	155257602	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2598269	155257602	93993019	33	10684											
GON4L	54856	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-													tggcccaggcctgagtgtcaTttttttccctctctttgagc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:155823172delT	ENST00000368331.1	-	2	448	c.400delA	c.(400-402)atgfs	p.M134fs	GON4L_ENST00000437809.1_Frame_Shift_Del_p.M134fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.M134fs|GON4L_ENST00000361040.5_Frame_Shift_Del_p.M134fs|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	134					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)					CTGAGTGTCATTTTTTTCCCT	0.458																																					p.M134X		.											.	GON4L-93	0			c.400delA						.						131	133	132					1																	155823172		2203	4300	6503	SO:0001589	frameshift_variant	54856	exon2			GTGTCATTTTTTT	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.400delA	1.37:g.155823172delT	ENSP00000357315:p.Met134fs	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	110	33	NM_001037533	0	0	0	0	0	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	DEL	ENST00000368331.1	37																																																																																				.		0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		-	155823172	T	-	155823172	7	5	52	1	0	1	0	1	0	0	0	0	6598	1493	52	0	6563	0	GON4L	1	155823172	Frame_Shift_Del	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	565570	155823172	93427449	34	10685											
MEF2D	4209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156437983	156437983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacagctggagggggaggCgcagggctgcgctcacggct	18	11	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:156437983C>T	ENST00000348159.4	-	11	1836	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	MEF2D_ENST00000360595.3_Silent_p.A445A|MEF2D_ENST00000353795.3_Silent_p.A406A|MEF2D_ENST00000368240.2_Silent_p.A445A|MEF2D_ENST00000464356.2_Silent_p.A444A|MEF2D_ENST00000340875.5_Silent_p.A451A	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	452	Poly-Pro.				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)					GAGGGGGAGGCGCAGGGCTGC	0.687																																					p.A452A		.											.	MEF2D-659	0			c.G1356A						.						37	45	42					1																	156437983		2197	4286	6483	SO:0001819	synonymous_variant	4209	exon11			GGGAGGCGCAGGG	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.1356G>A	1.37:g.156437983C>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	73	63	NM_005920	0	0	0	16	16	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	CCDS1143.1																																																																																			.		0.687	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		T	156437983	C	T	156437983	2	4	52	1	0	0	0	0	0	0	0	1	9496	755	27	1		1	MEF2D	1	156437983	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	614811	156437983	92812638	35	10686											
NES	10763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	156640677	156640677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctcccaccccctgcccCgggcctggctcagctcccgc	9	24	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:156640677C>T	ENST00000368223.3	-	4	3435	c.3303G>A	c.(3301-3303)ccG>ccA	p.P1101P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1101	Tail.		P -> L (in dbSNP:rs2886443). {ECO:0000269|PubMed:1478958}.		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)					CCCCCTGCCCCGGGCCTGGCT	0.647																																					p.P1101P		.											.	NES-520	0			c.G3303A						.						18	22	20					1																	156640677		2187	4280	6467	SO:0001819	synonymous_variant	10763	exon4			CTGCCCCGGGCCT	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.3303G>A	1.37:g.156640677C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	52	47	NM_006617	0	0	0	2	2	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																			.		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156640677	C	T	156640677	2	4	52	1	0	0	0	0	0	0	0	1	10376	639	23	1		1	NES	1	156640677	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	202694	156640677	92609944	36	10687											
HDGF	3068	bcgsc.ca	37	chr1	156713558	156713558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagagccgggctcagagGgggtgctattcttttccacc	14	12	2	2	rs4399146	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:156713558G>A	ENST00000357325.5	-	5	916	c.602C>T	c.(601-603)cCc>cTc	p.P201L	HDGF_ENST00000416666.2_Missense_Mutation_p.P169L|HDGF_ENST00000537739.1_Missense_Mutation_p.P201L|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.P217L|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.P194L|MRPL24_ENST00000368211.4_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	201	Glu-rich.		P -> L (in dbSNP:rs4399146). {ECO:0000269|PubMed:14702039}.		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)		GGGCTCAGAGGGGGTGCTATT	0.602													G|||	962	0.192093	0.0666	0.2219	5008	,	,		17389	0.125		0.334	False		,,,				2504	0.2638				p.P217L		.											.	HDGF-226	0			c.C650T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	499,3907	224.6+/-240.7	31,437,1735	36	38	37		650,581,602	1.7	1	1	dbSNP_111	37	2966,5634	436.8+/-358.4	533,1900,1867	yes	missense,missense,missense	HDGF	NM_001126050.1,NM_001126051.1,NM_004494.2	98,98,98	564,2337,3602	AA,AG,GG		34.4884,11.3255,26.6416	benign,benign,benign	217/257,194/234,201/241	156713558	3465,9541	2203	4300	6503	SO:0001583	missense	3068	exon5			TCAGAGGGGGTGC	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.602C>T	1.37:g.156713558G>A	ENSP00000349878:p.Pro201Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	36	4	NM_001126050	0	0	63	63	0	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	449	0.20558608058608058	26	0.052845528455284556	99	0.27348066298342544	73	0.12762237762237763	251	0.3311345646437995	G	10.57	1.385885	0.25031	0.113255	0.344884	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.39406	1.67;1.15;1.67;1.22;1.08	4.67	1.7	0.24286	.	0.957193	0.08579	U	0.924918	T	0.17534	0.0421	L	0.50333	1.59	0.31954	P	0.609266	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.16512	-1.0400	9	0.52906	T	0.07	-1.8131	6.7766	0.23622	0.0948:0.343:0.5621:0.0	rs4399146;rs4399146	176;217;194;201	B7Z958;Q5SZ07;Q5SZ08;P51858	.;.;.;HDGF_HUMAN	L	201;194;201;169;217;224	ENSP00000349878:P201L;ENSP00000357192:P194L;ENSP00000443120:P201L;ENSP00000416752:P169L;ENSP00000357189:P217L	ENSP00000349878:P201L	P	-	2	0	HDGF	154980182	0.750000	0.28316	0.985000	0.45067	0.759000	0.43091	0.827000	0.27421	0.192000	0.20272	-0.366000	0.07423	CCC	G|0.789;A|0.211		0.602	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		A	156713558	G	A	156713558	3	1	52	1	0	0	0	0	1	0	0	0	7045	1232	43	3	128	3	HDGF	1	156713558	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	72881	156713558	92537063	37	10688											
CD5L	922	bcgsc.ca;mdanderson.org	37	chr1	157805632	157805632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatactcactctcacaCgatgccccagcatcttcatc	4	18	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:157805632C>T	ENST00000368174.4	-	3	465	c.369G>A	c.(367-369)tcG>tcA	p.S123S	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	123	SRCR 1. {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)			CACTCTCACACGATGCCCCAG	0.498																																					p.S123S		.											.	CD5L-91	0			c.G369A						.						105	106	106					1																	157805632		2203	4300	6503	SO:0001819	synonymous_variant	922	exon3			CTCACACGATGCC	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.369G>A	1.37:g.157805632C>T		Somatic	57	2		WXS	Illumina GAIIx	Phase_I	42	31	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																			.		0.498	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		T	157805632	C	T	157805632	2	4	52	1	0	0	0	0	0	0	0	1	3034	523	19	1		1	CD5L	1	157805632	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1092074	157805632	91444989	38	10689											
NHLH1	4807	hgsc.bcm.edu	37	chr1	160340658	160340658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgggagggggccaggcccGaggcccagagccgggagagc	20	13	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:160340658G>A	ENST00000302101.5	+	2	583	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	46					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCAGGCCCGAGGCCCAGAG	0.756																																					p.R46Q		.											.	NHLH1-69	0			c.G137A						.						6	9	8					1																	160340658		1930	3989	5919	SO:0001583	missense	4807	exon2			AGGCCCGAGGCCC	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"Basic helix-loop-helix proteins"	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.137G>A	1.37:g.160340658G>A	ENSP00000302189:p.Arg46Gln	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	24	21	NM_005598	0	0	0	0	0		Missense_Mutation	SNP	ENST00000302101.5	37	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593737	0.28445	.	.	ENSG00000171786	ENST00000302101	D	0.95518	-3.73	4.04	4.04	0.47022	.	0.000000	0.48767	D	0.000173	D	0.83986	0.5373	N	0.24115	0.695	0.29125	N	0.879981	B	0.16603	0.018	B	0.04013	0.001	T	0.70956	-0.4731	10	0.13853	T	0.58	-17.4146	15.2888	0.73852	0.0:0.0:1.0:0.0	.	46	Q02575	HEN1_HUMAN	Q	46	ENSP00000302189:R46Q	ENSP00000302189:R46Q	R	+	2	0	NHLH1	158607282	0.266000	0.24112	0.759000	0.31340	0.099000	0.18886	3.552000	0.53705	2.233000	0.73108	0.650000	0.86243	CGA	.		0.756	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		A	160340658	G	A	160340658	3	1	52	1	0	0	0	0	1	0	0	0	10442	1058	37	1	139	1	NHLH1	1	160340658	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2535026	160340658	88909963	39	10690											
UCK2	7371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	165865482	165865482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctctttgaagggatcCtggccttctactcccaggag	12	11	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:165865482C>A	ENST00000367879.4	+	4	715	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	UCK2_ENST00000372212.4_Intron|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000470820.1_5'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	138					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGAAGGGATCCTGGCCTTCTA	0.542																																					p.L138M		.											.	UCK2-91	0			c.C412A						.						216	202	207					1																	165865482		2203	4300	6503	SO:0001583	missense	7371	exon4			GGGATCCTGGCCT	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.412C>A	1.37:g.165865482C>A	ENSP00000356853:p.Leu138Met	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	145	19	NM_012474	0	0	7	7	0	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046533	0.75846	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.29	4.37	0.52481	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.80982	2.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.72808	-0.4181	8	0.48119	T	0.1	-19.8353	12.073	0.53628	0.0:0.9152:0.0:0.0848	.	138	Q9BZX2	UCK2_HUMAN	M	138	.	ENSP00000356853:L138M	L	+	1	2	UCK2	164132106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.091000	0.50199	1.217000	0.43442	0.655000	0.94253	CTG	.		0.542	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		A	165865482	C	A	165865482	3	1	52	1	0	0	0	0	1	0	0	0	16973	680	24	3	426	3	UCK2	1	165865482	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5524824	165865482	83385139	40	10691											
ILDR2	387597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	166891885	166891885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatggctgagggcccgcGgcttgccccactgctgcctc	12	18	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:166891885G>A	ENST00000271417.3	-	8	1211	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.R386C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259C|ILDR2_ENST00000529071.1_Missense_Mutation_p.R367C|ILDR2_ENST00000528703.1_Missense_Mutation_p.R327C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	386					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGGGCCCGCGGCTTGCCCCA	0.577																																					p.R386C		.											.	ILDR2-91	0			c.C1156T						.						170	181	177					1																	166891885		2203	4300	6503	SO:0001583	missense	387597	exon8			GCCCGCGGCTTGC	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1156C>T	1.37:g.166891885G>A	ENSP00000271417:p.Arg386Cys	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	61	45	NM_199351	0	0	0	0	0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311671	0.60414	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.80909	0.21;-1.43;0.34;0.19;-1.42;-0.4	4.71	3.77	0.43336	.	0.251901	0.31834	N	0.007000	T	0.74107	0.3673	L	0.51422	1.61	0.40761	D	0.983002	D	0.76494	0.999	P	0.53689	0.732	T	0.75866	-0.3166	10	0.51188	T	0.08	.	9.6908	0.40127	0.0:0.0:0.7839:0.216	.	386	Q71H61	ILDR2_HUMAN	C	386;259;386;367;278;327	ENSP00000271417:R386C;ENSP00000436120:R259C;ENSP00000437008:R386C;ENSP00000436882:R367C;ENSP00000434273:R278C;ENSP00000432750:R327C	ENSP00000271417:R386C	R	-	1	0	ILDR2	165158509	0.999000	0.42202	0.999000	0.59377	0.833000	0.47200	1.246000	0.32803	1.128000	0.42052	0.561000	0.74099	CGC	.		0.577	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166891885	G	A	166891885	3	1	52	1	0	0	0	0	1	0	0	0	7737	1116	39	1	775	1	ILDR2	1	166891885	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1026403	166891885	82358736	41	10692											
SELP	6403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	169559391	169559391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatagggatcttaccttaagGactcgggtcaaatgcagcgt	11	8	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:169559391G>A	ENST00000263686.6	-	16	2525	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	SELP_ENST00000367791.2_Missense_Mutation_p.P644S|SELP_ENST00000367786.2_Missense_Mutation_p.P768S|SELP_ENST00000458599.2_Missense_Mutation_p.P646S|SELP_ENST00000367793.2_Missense_Mutation_p.P768S|SELP_ENST00000367788.2_Missense_Mutation_p.P768S|SELP_ENST00000367792.2_Missense_Mutation_p.P646S|SELP_ENST00000367794.2_Missense_Mutation_p.P768S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	830	Interaction with SNX17.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTACCTTAAGGACTCGGGTCA	0.348																																					p.P830S		.											.	SELP-94	0			c.C2488T						.						103	99	100					1																	169559391		2203	4300	6503	SO:0001583	missense	6403	exon16			CTTAAGGACTCGG	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.2488C>T	1.37:g.169559391G>A	ENSP00000263686:p.Pro830Ser	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	43	35	NM_003005	0	0	0	0	0	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.010517|2.010517	0.35511|0.35511	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.26223|.	2.26;2.08;1.8;1.75;1.95;2.08;1.8|.	4.81|4.81	-1.8|-1.8	0.07907|0.07907	.|.	1.316620|.	0.05138|.	N|.	0.493705|.	T|T	0.08537|0.08537	0.0212|0.0212	N|N	0.16066|0.16066	0.365|0.365	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	0.995;1.0;0.999|.	P;D;P|.	0.83275|.	0.727;0.996;0.896|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|6	0.87932|0.87932	D|D	0|0	.|.	5.6825|5.6825	0.17784|0.17784	0.4127:0.0:0.4592:0.1281|0.4127:0.0:0.4592:0.1281	.|.	829;830;790|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	S|F	644;830;829;646;830;790;768;768;646;644;768;768;753|645	ENSP00000263686:P830S;ENSP00000356767:P768S;ENSP00000356768:P768S;ENSP00000356766:P646S;ENSP00000356765:P644S;ENSP00000356762:P768S;ENSP00000356760:P768S|.	ENSP00000263686:P830S|ENSP00000388683:S645F	P|S	-|-	1|2	0|0	SELP|SELP	167826015|167826015	0.028000|0.028000	0.19301|0.19301	0.005000|0.005000	0.12908|0.12908	0.001000|0.001000	0.01503|0.01503	-0.013000|-0.013000	0.12678|0.12678	-0.600000|-0.600000	0.05790|0.05790	-2.630000|-2.630000	0.00154|0.00154	CCT|TCC	.		0.348	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		A	169559391	G	A	169559391	3	1	52	1	0	0	0	0	1	0	0	0	14064	1174	41	3	8	3	SELP	1	169559391	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2667506	169559391	79691230	42	10693											
RASAL2	9462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	178412191	178412191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctattcggattaaatcaCgtttccaaactatcaccatt	3	11	3	0	rs200438546		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:178412191C>T	ENST00000462775.1	+	6	990	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	RASAL2_ENST00000367649.3_Missense_Mutation_p.R437C|RASAL2_ENST00000448150.3_Missense_Mutation_p.R419C	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	289					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						GATTAAATCACGTTTCCAAAC	0.438																																					p.R437C		.											.	RASAL2-155	0			c.C1309T						.						111	108	109					1																	178412191		2203	4300	6503	SO:0001583	missense	9462	exon8			AAATCACGTTTCC	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.865C>T	1.37:g.178412191C>T	ENSP00000420558:p.Arg289Cys	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	107	29	NM_170692	0	0	0	1	1	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901213	0.92035	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.27890	1.64;1.64;1.65	5.88	5.88	0.94601	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.70414	-0.4878	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	289;437	Q9UJF2;F8W755	NGAP_HUMAN;.	C	419;437;289	ENSP00000407768:R419C;ENSP00000356621:R437C;ENSP00000420558:R289C	ENSP00000356621:R437C	R	+	1	0	RASAL2	176678814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.780000	0.95670	0.655000	0.94253	CGT	.		0.438	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		T	178412191	C	T	178412191	3	4	52	1	0	0	0	0	1	0	0	0	13109	536	19	1	1356	1	RASAL2	1	178412191	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8852800	178412191	70838430	43	10694											
CACNA1E	777	broad.mit.edu	37	chr1	181702849	181702849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcaccgtcgccatcccCgacgtggaccccttggtgga	12	16	1	0	rs572301954	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:181702849C>T	ENST00000367573.2	+	21	3225	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	CACNA1E_ENST00000360108.3_Silent_p.P1056P|CACNA1E_ENST00000357570.5_Silent_p.P1026P|CACNA1E_ENST00000358338.5_Silent_p.P1007P|CACNA1E_ENST00000367567.4_Silent_p.P682P|CACNA1E_ENST00000526775.1_Silent_p.P1056P|CACNA1E_ENST00000367570.1_Silent_p.P1075P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					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						TCGCCATCCCCGACGTGGACC	0.652													C|||	2	0.000399361	0	0.0029	5008	,	,		18392	0		0	False		,,,				2504	0				p.P1075P		.											.	CACNA1E-95	0			c.C3225T						.						38	44	42					1																	181702849		2172	4257	6429	SO:0001819	synonymous_variant	777	exon21			CATCCCCGACGTG	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.3225C>T	1.37:g.181702849C>T		Somatic	436	0		WXS	Illumina GAIIx	Phase_I	342	7	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181702849	C	T	181702849	2	4	52	1	0	0	0	0	0	0	0	1	2549	639	23	1		1	CACNA1E	1	181702849	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3290658	181702849	67547772	44	10695											
LGR6	59352	broad.mit.edu	37	chr1	202287206	202287206	+	Frame_Shift_Del	DEL	T	T	-													cgtgttcgctggcgggcctgTccccctgcccccggtcaagt					rs788795|rs113146160	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:202287206delT	ENST00000367278.3	+	18	1864	c.1775delT	c.(1774-1776)gtcfs	p.V592fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.V540fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.V453fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	592			V -> A (in dbSNP:rs788795). {ECO:0000269|PubMed:12975309, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCGGGCCTGTCCCCCTGCCC	0.622																																					p.V592fs		.											.	LGR6-160	0			c.1775delT						.						87	75	79					1																	202287206		2203	4300	6503	SO:0001589	frameshift_variant	59352	exon18			GGCCTGTCCCCCT	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1775delT	1.37:g.202287206delT	ENSP00000356247:p.Val592fs	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	101	10	NM_001017403	0	0	0	0	0	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	CCDS30971.1																																																																																			.		0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		-	202287206	T	-	202287206	7	5	52	1	0	1	0	1	0	0	0	0	8787	1667	58	0	1992	0	LGR6	1	202287206	Frame_Shift_Del	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	20584357	202287206	46963415	45	10696											
PPFIA4	8497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	203025515	203025515	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgttcagtcgccagtgtctCgggaagagaaccgagaggat	14	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:203025515C>A	ENST00000447715.2	+	23	2494	c.2053C>A	c.(2053-2055)Cgg>Agg	p.R685R	PPFIA4_ENST00000414050.2_Silent_p.R414R|PPFIA4_ENST00000295706.4_Silent_p.R201R|PPFIA4_ENST00000272198.6_Silent_p.R201R|PPFIA4_ENST00000367240.2_Silent_p.R686R|PPFIA4_ENST00000599966.1_Silent_p.R201R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	685					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCAGTGTCTCGGGAAGAGAA	0.587																																					p.R201R		.											.	PPFIA4-230	0			c.C601A						.						48	53	52					1																	203025515		1954	4145	6099	SO:0001819	synonymous_variant	8497	exon5			GTGTCTCGGGAAG	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2053C>A	1.37:g.203025515C>A		Somatic	262	1		WXS	Illumina GAIIx	Phase_I	147	118	NM_015053	0	0	0	0	0	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37																																																																																				.		0.587	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203025515	C	A	203025515	2	1	52	1	0	0	0	0	0	0	0	1	12351	875	31	2		2	PPFIA4	1	203025515	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	738309	203025515	46225106	46	10697											
KCNK2	3776	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	215408439	215408439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctatctgaatggtttgaCgccacactgtgctggtgaag	11	8	2	3	rs538085965		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:215408439C>T	ENST00000444842.2	+	7	1382	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	KCNK2_ENST00000391894.2_Missense_Mutation_p.T396M|KCNK2_ENST00000391895.2_Missense_Mutation_p.T407M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	411	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.			T -> A (in Ref. 3; AAD01203). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	AATGGTTTGACGCCACACTGT	0.473													C|||	1	0.000199681	8e-04	0	5008	,	,		21139	0		0	False		,,,				2504	0				p.T411M		.											.	KCNK2-90	0			c.C1232T						.						144	141	142					1																	215408439		2203	4300	6503	SO:0001583	missense	3776	exon7			GTTTGACGCCACA	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1232C>T	1.37:g.215408439C>T	ENSP00000394033:p.Thr411Met	Somatic	87	1		WXS	Illumina GAIIx	Phase_I	46	36	NM_001017425	0	0	0	11	11	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037400	0.54896	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.20881	2.04;2.05;2.04	5.63	5.63	0.86233	.	0.395296	0.29066	N	0.013246	T	0.18964	0.0455	N	0.19112	0.55	0.53005	D	0.999964	D;P;D	0.52996	0.957;0.928;0.957	B;B;B	0.42882	0.308;0.162;0.401	T	0.01591	-1.1317	10	0.54805	T	0.06	.	19.6727	0.95916	0.0:1.0:0.0:0.0	.	396;411;407	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	M	407;396;411	ENSP00000375765:T407M;ENSP00000375764:T396M;ENSP00000394033:T411M	ENSP00000375764:T396M	T	+	2	0	KCNK2	213475062	0.996000	0.38824	0.998000	0.56505	0.993000	0.82548	2.971000	0.49248	2.661000	0.90470	0.491000	0.48974	ACG	.		0.473	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		T	215408439	C	T	215408439	3	4	52	1	0	0	0	0	1	0	0	0	8093	536	19	1	1301	1	KCNK2	1	215408439	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	12382924	215408439	33842182	47	10698											
ACBD3	64746	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	226342403	226342403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggttccagttctttttcGgagctgtcagtgtgtgtttt	11	7	3	0	rs545965641		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:226342403G>A	ENST00000366812.5	-	6	1089	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	345					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)			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)		GTTCTTTTTCGGAGCTGTCAG	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		16500	0		0	False		,,,				2504	0				p.S345S		.											.	ACBD3-226	0			c.C1035T						.						186	167	173					1																	226342403		2203	4300	6503	SO:0001819	synonymous_variant	64746	exon6			TTTTTCGGAGCTG	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.1035C>T	1.37:g.226342403G>A		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	150	134	NM_022735	0	0	0	12	12	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Silent	SNP	ENST00000366812.5	37	CCDS1551.1																																																																																			.		0.433	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		A	226342403	G	A	226342403	2	1	52	1	0	0	0	0	0	0	0	1	123	1103	39	1		1	ACBD3	1	226342403	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10933964	226342403	22908218	48	10699											
PARP1	142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	226555191	226555191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgttaccttaatgtcaGttttgagcttctcatagttg	7	9	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:226555191G>A	ENST00000366794.5	-	17	2539	c.2396C>T	c.(2395-2397)aCt>aTt	p.T799I	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	799	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTAATGTCAGTTTTGAGCTT	0.507								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.T799I		.											.	PARP1-727	0			c.C2396T						.						203	177	185					1																	226555191		2203	4300	6503	SO:0001583	missense	142	exon17			ATGTCAGTTTTGA	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2396C>T	1.37:g.226555191G>A	ENSP00000355759:p.Thr799Ile	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	110	24	NM_001618	0	0	0	1	1	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797902	0.90538	.	.	ENSG00000143799	ENST00000366794	T	0.14516	2.5	5.51	5.51	0.81932	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23261	-1.0193	10	0.72032	D	0.01	-24.5456	19.4293	0.94758	0.0:0.0:1.0:0.0	.	799	P09874	PARP1_HUMAN	I	799	ENSP00000355759:T799I	ENSP00000355759:T799I	T	-	2	0	PARP1	224621814	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	9.471000	0.97696	2.599000	0.87857	0.655000	0.94253	ACT	.		0.507	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		A	226555191	G	A	226555191	3	1	52	1	0	0	0	0	1	0	0	0	11493	1029	36	3	676	3	PARP1	1	226555191	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	212788	226555191	22695430	49	10700											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgccgtggcctctgcgCggctcaccgtgctgggtggg	18	14	2	0	rs11810627	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		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)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5	6	6		13546,13546	-1	0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	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.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_001271223	0	0	0	5	5	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	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228504670	C	T	228504670	3	4	52	1	0	0	0	0	1	0	0	0	10851	759	27	1	13744	1	OBSCN	1	228504670	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1949479	228504670	20745951	50	10701											
OBSCN	84033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	228509610	228509610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttccgcaccaaaagtcCggctgaagtttcagatgagg	11	11	2	3	rs182318410	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:228509610C>T	ENST00000422127.1	+	55	15112	c.15068C>T	c.(15067-15069)cCg>cTg	p.P5023L	OBSCN_ENST00000366707.4_Missense_Mutation_p.P2657L|OBSCN_ENST00000570156.2_Missense_Mutation_p.P5980L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5023L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2142L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5023					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)				ACCAAAAGTCCGGCTGAAGTT	0.637													C|||	17	0.00339457	0	0	5008	,	,		17596	0.0149		0	False		,,,				2504	0.002				p.P5980L		.											.	OBSCN-403	0			c.C17939T						.	C	LEU/PRO,LEU/PRO	2,3842		0,2,1920	24	27	26		15068,15068	5.1	0.3	1		26	4,8228		0,4,4112	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	98,98	0,6,6032	TT,TC,CC		0.0486,0.052,0.0497	benign,benign	5023/7969,5023/6621	228509610	6,12070	1922	4116	6038	SO:0001583	missense	84033	exon66			AAAGTCCGGCTGA	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.15068C>T	1.37:g.228509610C>T	ENSP00000409493:p.Pro5023Leu	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	44	32	NM_001271223	0	0	0	3	3	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	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	13.12	2.141720	0.37825	5.2E-4	4.86E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.69806	0.02;-0.43;0.02;0.51	5.07	5.07	0.68467	.	0.372655	0.24678	N	0.036482	T	0.47395	0.1443	L	0.27053	0.805	0.21782	N	0.999542	B;P	0.36587	0.423;0.559	B;B	0.32022	0.066;0.139	T	0.56013	-0.8049	10	0.72032	D	0.01	.	18.4625	0.90745	0.0:1.0:0.0:0.0	.	5023;5023	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	5023;5023;2657;2142	ENSP00000284548:P5023L;ENSP00000409493:P5023L;ENSP00000355668:P2657L;ENSP00000355670:P2142L	ENSP00000284548:P5023L	P	+	2	0	OBSCN	226576233	0.989000	0.36119	0.322000	0.25334	0.004000	0.04260	6.967000	0.76079	2.359000	0.80004	0.655000	0.94253	CCG	C|0.997;T|0.003		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228509610	C	T	228509610	3	4	52	1	0	0	0	0	1	0	0	0	10851	652	23	1	15282	1	OBSCN	1	228509610	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4940	228509610	20741011	51	10702											
HIST3H3	8290	broad.mit.edu;bcgsc.ca	37	chr1	228612628	228612628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccctcctaggcccgctcCccgcggatacggcgtgccag	12	18	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:228612628C>T	ENST00000366696.1	-	1	398	c.399G>A	c.(397-399)ggG>ggA	p.G133G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	133					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587																																					p.G133G		.											.	HIST3H3-90	0			c.G399A						.						64	58	60					1																	228612628		2203	4300	6503	SO:0001819	synonymous_variant	8290	exon1			CCGCTCCCCGCGG	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.399G>A	1.37:g.228612628C>T		Somatic	322	1		WXS	Illumina GAIIx	Phase_I	209	12	NM_003493	0	0	0	0	0	B2R5K3|Q6FGU4	Silent	SNP	ENST00000366696.1	37	CCDS1572.1																																																																																			.		0.587	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		T	228612628	C	T	228612628	2	4	52	1	0	0	0	0	0	0	0	1	7211	610	22	3		3	HIST3H3	1	228612628	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	103018	228612628	20637993	52	10703											
URB2	9816	broad.mit.edu;bcgsc.ca	37	chr1	229768022	229768022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaaattcaggtgttaCttgattgggcaagacaatca	8	8	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:229768022C>A	ENST00000258243.2	+	3	269	c.133C>A	c.(133-135)Ctt>Att	p.L45I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	45						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCAGGTGTTACTTGATTGGGC	0.318																																					p.L45I		.											.	URB2-174	0			c.C133A						.						74	76	75					1																	229768022		2203	4300	6503	SO:0001583	missense	9816	exon3			GTGTTACTTGATT	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.133C>A	1.37:g.229768022C>A	ENSP00000258243:p.Leu45Ile	Somatic	222	1		WXS	Illumina GAIIx	Phase_I	158	8	NM_014777	0	0	0	0	0	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971806	0.74246	.	.	ENSG00000135763	ENST00000258243	T	0.54479	0.57	5.65	5.65	0.86999	.	0.064074	0.64402	D	0.000003	T	0.63355	0.2504	L	0.32530	0.975	0.53688	D	0.999972	D	0.76494	0.999	D	0.68943	0.961	T	0.58662	-0.7597	9	.	.	.	-16.3855	19.7124	0.96100	0.0:1.0:0.0:0.0	.	45	Q14146	URB2_HUMAN	I	45	ENSP00000258243:L45I	.	L	+	1	0	URB2	227834645	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.906000	0.48735	2.662000	0.90505	0.655000	0.94253	CTT	.		0.318	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229768022	C	A	229768022	3	1	52	1	0	0	0	0	1	0	0	0	17074	565	20	3	139	3	URB2	1	229768022	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1155394	229768022	19482599	53	10704											
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	234367444	234367444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtactacgtggggcacGtctgcaagtccacagagaag	13	10	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:234367444G>A	ENST00000366617.3	+	2	586	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	SLC35F3_ENST00000366618.3_Missense_Mutation_p.V189I			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	120					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGTGGGGCACGTCTGCAAGTC	0.587																																					p.V189I		.											.	SLC35F3-92	0			c.G565A						.						141	132	135					1																	234367444		2203	4300	6503	SO:0001583	missense	148641	exon3			GGGCACGTCTGCA		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.358G>A	1.37:g.234367444G>A	ENSP00000355576:p.Val120Ile	Somatic	338	0		WXS	Illumina GAIIx	Phase_I	216	172	NM_173508	0	0	0	1	1	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	G	13.02	2.112606	0.37242	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.44083	0.94;0.93	4.61	-0.643	0.11482	.	0.516121	0.21468	N	0.074052	T	0.24509	0.0594	L	0.31578	0.945	0.37200	D	0.90433	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.05852	-1.0860	10	0.31617	T	0.26	-11.5618	6.1134	0.20114	0.3658:0.1211:0.5131:0.0	.	120;189	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	I	189;120	ENSP00000355577:V189I;ENSP00000355576:V120I	ENSP00000355576:V120I	V	+	1	0	SLC35F3	232434067	0.859000	0.29813	0.720000	0.30636	0.997000	0.91878	0.374000	0.20501	-0.313000	0.08728	0.591000	0.81541	GTC	.		0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234367444	G	A	234367444	3	1	52	1	0	0	0	0	1	0	0	0	14635	1145	40	1	575	1	SLC35F3	1	234367444	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4599422	234367444	14883177	54	10705											
FMN2	56776	hgsc.bcm.edu;bcgsc.ca	37	chr1	240370291	240370295	+	Frame_Shift_Del	DEL	AGGTT	AGGTT	-													atgtctgtctcgaagctctcAggttagaagaaaaggaagta							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AGGTT	AGGTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr1:240370291_240370295delAGGTT	ENST00000319653.9	+	5	2409_2413	c.2179_2183delAGGTT	c.(2179-2184)aggttafs	p.RL727fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	727					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)			CGAAGCTCTCAGGTTAGAAGAAAAG	0.541																																					p.727_728del		.											.	FMN2-145	0			c.2179_2183del						.																																			SO:0001589	frameshift_variant	56776	exon5			GCTCTCAGGTTAG	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.2179_2183delAGGTT	1.37:g.240370291_240370295delAGGTT	ENSP00000318884:p.Arg727fs	Somatic	197	1		WXS	Illumina GAIIx	Phase_I	121	92	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.541	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		-	240370295	AGGTT	-	240370291	7	5	52	1	0	1	0	1	0	0	0	0	5972	179	7	0	2197	0	FMN2	1	240370291	Frame_Shift_Del	DEL	AGGTT	TCGA-OR-A5LJ-01A-11D-A29I-10	6002847	240370291	8880330	55	10706											
TPO	7173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	1520736	1520736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcttcgcaggtctcacctCgacggtgatttgcaggtggt	14	10	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:1520736C>T	ENST00000345913.4	+	15	2691	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	TPO_ENST00000329066.4_Missense_Mutation_p.S867L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.S823L|TPO_ENST00000382201.3_Missense_Mutation_p.S810L|TPO_ENST00000349624.3_Missense_Mutation_p.S694L|TPO_ENST00000337415.3_Missense_Mutation_p.S867L|TPO_ENST00000382198.1_Missense_Mutation_p.S694L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	867					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTCTCACCTCGACGGTGATT	0.537																																					p.S867L		.											.	TPO-332	0			c.C2600T						.						78	69	72					2																	1520736		2203	4300	6503	SO:0001583	missense	7173	exon15			TCACCTCGACGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2600C>T	2.37:g.1520736C>T	ENSP00000318820:p.Ser867Leu	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	70	57	NM_001206744	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.898|9.898	1.206077|1.206077	0.22205|0.22205	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	.|T;T;T;T;T;T;T;T;T;T	.|0.67865	.|-0.13;-0.08;-0.07;0.15;-0.08;-0.02;0.15;-0.13;0.68;-0.29	5.52|5.52	4.64|4.64	0.57946|0.57946	.|.	.|1.260270	.|0.05517	.|N	.|0.561481	.|T	.|0.48943	.|0.1528	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.28128	.|0.165;0.201;0.114;0.069	.|B;B;B;B	.|0.21151	.|0.024;0.033;0.015;0.007	.|T	.|0.03545	.|-1.1026	.|10	.|0.23302	.|T	.|0.38	-23.8912|-23.8912	12.5246|12.5246	0.56079|0.56079	0.0:0.1707:0.8293:0.0|0.0:0.1707:0.8293:0.0	.|.	.|823;694;810;867	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	X|L	342|867;867;823;694;867;810;694;752;297;88	.|ENSP00000337263:S867L;ENSP00000318820:S867L;ENSP00000263886:S823L;ENSP00000332044:S694L;ENSP00000329869:S867L;ENSP00000371636:S810L;ENSP00000371633:S694L;ENSP00000405788:S752L;ENSP00000419461:S297L;ENSP00000389659:S88L	.|ENSP00000329869:S867L	R|S	+|+	1|2	2|0	TPO|TPO	1499743|1499743	1.000000|1.000000	0.71417|0.71417	0.725000|0.725000	0.30721|0.30721	0.007000|0.007000	0.05969|0.05969	2.482000|2.482000	0.45224|0.45224	1.346000|1.346000	0.45694|0.45694	-0.153000|-0.153000	0.13522|0.13522	CGA|TCG	.		0.537	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1520736	C	T	1520736	3	4	52	1	0	0	0	0	1	0	0	0	16458	893	31	1	2654	1	TPO	2	1520736	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		1520736	241678637	56	10707											
LPIN1	23175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	11960588	11960588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaatagaatatttaccGtcaaccctaaaggagagctg	8	8	1	3	rs557485971		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:11960588G>A	ENST00000256720.2	+	19	2554	c.2461G>A	c.(2461-2463)Gtc>Atc	p.V821I	LPIN1_ENST00000396097.1_Missense_Mutation_p.V551I|LPIN1_ENST00000396099.1_Missense_Mutation_p.V863I|LPIN1_ENST00000404113.2_Missense_Mutation_p.V322I|LPIN1_ENST00000449576.2_Missense_Mutation_p.V906I|LPIN1_ENST00000425416.2_Missense_Mutation_p.V827I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	821	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATATTTACCGTCAACCCTAA	0.338													G|||	1	0.000199681	8e-04	0	5008	,	,		19564	0		0	False		,,,				2504	0				p.V906I		.											.	LPIN1-156	0			c.G2716A						.						123	114	117					2																	11960588		2203	4300	6503	SO:0001583	missense	23175	exon21			TTTACCGTCAACC	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.2461G>A	2.37:g.11960588G>A	ENSP00000256720:p.Val821Ile	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	100	75	NM_001261428	0	0	0	6	6	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221052	0.95139	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	6.02	6.02	0.97574	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	N	0.20807	0.61	0.80722	D	1	D;D;B	0.89917	0.997;1.0;0.264	D;D;P	0.87578	0.954;0.998;0.6	T	0.75608	-0.3259	10	0.28530	T	0.3	-42.2648	20.5407	0.99260	0.0:0.0:1.0:0.0	.	322;906;821	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	I	906;863;827;821;551;322	ENSP00000397908:V906I;ENSP00000379406:V863I;ENSP00000401522:V827I;ENSP00000256720:V821I;ENSP00000379404:V551I;ENSP00000386120:V322I	ENSP00000256720:V821I	V	+	1	0	LPIN1	11878039	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	9.357000	0.97099	2.865000	0.98341	0.655000	0.94253	GTC	.		0.338	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11960588	G	A	11960588	3	1	52	1	0	0	0	0	1	0	0	0	8953	1145	40	1	2531	1	LPIN1	2	11960588	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10439852	11960588	231238785	57	10708											
APOB	338	broad.mit.edu	37	chr2	21230766	21230766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacatgctgggaatcgaCttgtgattgaatttcaagtt	10	8	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:21230766C>T	ENST00000233242.1	-	26	9101	c.8974G>A	c.(8974-8976)Gtc>Atc	p.V2992I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2992					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)					TGGGAATCGACTTGTGATTGA	0.423																																					p.V2992I		.											.	APOB-175	0			c.G8974A						.						90	94	93					2																	21230766		2203	4300	6503	SO:0001583	missense	338	exon26			AATCGACTTGTGA	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.8974G>A	2.37:g.21230766C>T	ENSP00000233242:p.Val2992Ile	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.016	-0.426023	0.04701	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.74	2.84	0.33178	.	0.485335	0.19019	N	0.124865	T	0.00967	0.0032	L	0.46157	1.445	0.18873	N	0.999989	B	0.06786	0.001	B	0.06405	0.002	T	0.44251	-0.9340	10	0.27785	T	0.31	.	10.2334	0.43268	0.0:0.6944:0.0:0.3056	.	2992	P04114	APOB_HUMAN	I	2992	ENSP00000233242:V2992I	ENSP00000233242:V2992I	V	-	1	0	APOB	21084271	0.787000	0.28750	0.481000	0.27354	0.331000	0.28603	0.672000	0.25187	0.714000	0.32081	0.561000	0.74099	GTC	.		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21230766	C	T	21230766	3	4	52	1	0	0	0	0	1	0	0	0	785	565	20	3	4733	3	APOB	2	21230766	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	9270178	21230766	221968607	58	10709											
SLC30A6	55676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32396391	32396391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgaaaaccacaaagatcCttttttggcaagttgttacg	7	8	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:32396391C>T	ENST00000282587.5	+	2	76	c.39C>T	c.(37-39)tcC>tcT	p.S13S	SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Intron|SLC30A6_ENST00000379343.2_Silent_p.S13S|SLC30A6_ENST00000435660.1_Silent_p.S13S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	13					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CACAAAGATCCTTTTTTGGCA	0.333																																					p.S13S		.											.	SLC30A6-90	0			c.C39T						.						107	106	107					2																	32396391		2203	4300	6503	SO:0001819	synonymous_variant	55676	exon2			AAGATCCTTTTTT	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.39C>T	2.37:g.32396391C>T		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	98	42	NM_001193513	0	0	0	1	1	A5YM45|B7Z901|Q8N5C9|Q96NC3	Silent	SNP	ENST00000282587.5	37	CCDS1780.1																																																																																			.		0.333	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			T	32396391	C	T	32396391	2	4	52	1	0	0	0	0	0	0	0	1	14604	668	24	3		3	SLC30A6	2	32396391	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	11165625	32396391	210802982	59	10710											
FEZ2	9637	hgsc.bcm.edu	37	chr2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccaagctgcaggccGgggccgggaaaccgtcggcg	15	15	1	0	rs1544655	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:36825137G>A	ENST00000405912.3	-	1	148	c.149C>T	c.(148-150)cCg>cTg	p.P50L	FEZ2_ENST00000379245.4_Missense_Mutation_p.P50L	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	50			P -> L (in dbSNP:rs1544655). {ECO:0000269|PubMed:10931946}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTGCAGGCCGGGGCCGGGAA	0.761													A|||	4355	0.869609	0.9039	0.8372	5008	,	,		3879	0.9881		0.7435	False		,,,				2504	0.8538				p.P50L		.											.	FEZ2-23	0			c.C149T						.						2	3	3					2																	36825137		1191	2916	4107	SO:0001583	missense	9637	exon1			CAGGCCGGGGCCG	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.149C>T	2.37:g.36825137G>A	ENSP00000385112:p.Pro50Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001042548	0	0	0	1	1	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1789	0.8191391941391941	416	0.8455284552845529	284	0.7845303867403315	557	0.9737762237762237	532	0.7018469656992085	A	9.679	1.148856	0.21288	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.16897	2.31;2.31	3.93	3.93	0.45458	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00121	-2.07	0.09310	P	0.9999999999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32025	-0.9922	9	0.02654	T	1	-21.1042	7.5473	0.27775	0.8952:0.0:0.1048:0.0	rs1544655	50;50;50	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	L	50	ENSP00000368547:P50L;ENSP00000385112:P50L	ENSP00000368547:P50L	P	-	2	0	FEZ2	36678641	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	0.606000	0.24194	0.590000	0.29694	-0.775000	0.03384	CCG	T|0.817;C|0.180		0.761	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			A	36825137	G	A	36825137	3	1	52	1	0	0	0	0	1	0	0	0	5846	1116	39	1	1029	1	FEZ2	2	36825137	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4428746	36825137	206374236	60	10711											
SIX3	6496	hgsc.bcm.edu	37	chr2	45171842	45171842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctgacggagcgcgcAgacaccggcacctccatcct	10	18	0	2	rs338074	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:45171842A>G	ENST00000260653.3	+	2	1284	c.942A>G	c.(940-942)gcA>gcG	p.A314A	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGAGCGCGCAGACACCGGCA	0.697													G|||	4695	0.9375	0.9773	0.9323	5008	,	,		10095	0.9901		0.9165	False		,,,				2504	0.8548				p.A314A		.											.	SIX3-90	0			c.A942G						.	G		4039,129		1959,121,4	18	19	19		942	1	1	2	dbSNP_129	19	7494,648		3453,588,30	yes	coding-synonymous	SIX3	NM_005413.3		5412,709,34	GG,GA,AA		7.9587,3.095,6.3119		314/333	45171842	11533,777	2084	4071	6155	SO:0001819	synonymous_variant	6496	exon2			GCGCGCAGACACC	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.942A>G	2.37:g.45171842A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005413	0	0	0	0	0	D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																			A|0.059;G|0.941		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		G	45171842	A	G	45171842	2	3	52	1	0	0	0	0	0	0	0	1	14393	175	7	4		4	SIX3	2	45171842	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	8346705	45171842	198027531	61	10712											
MSH2	4436	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	47707899	47707900	+	Frame_Shift_Del	DEL	AG	AG	-													aatttccctaagcatgtaatAgagtgtgctaaacagaaagc					rs587779148		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:47707899_47707900delAG	ENST00000233146.2	+	15	2746_2747	c.2523_2524delAG	c.(2521-2526)atagagfs	p.E842fs	MSH2_ENST00000406134.1_Frame_Shift_Del_p.E842fs|MSH2_ENST00000543555.1_Frame_Shift_Del_p.E776fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	842					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATGTAATAGAGTGTGCTAA	0.421			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.841_842del		.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2-2445	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	c.2523_2524del						.																																			SO:0001589	frameshift_variant	4436	exon15	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	TGTAATAGAGTGT	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2523_2524delAG	2.37:g.47707901_47707902delAG	ENSP00000233146:p.Glu842fs	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	112	91	NM_000251	0	0	0	0	0	B4E2Z2|O75488	Frame_Shift_Del	DEL	ENST00000233146.2	37	CCDS1834.1																																																																																			.		0.421	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			-	47707900	AG	-	47707899	7	5	52	1	0	1	0	1	0	0	0	0	9908	410	15	0	2581	0	MSH2	2	47707899	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LJ-01A-11D-A29I-10	2536057	47707899	195491474	62	10713											
XPO1	7514	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	61729431	61729431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgataatgaggccaacaaCgtatttttttattcctatta	5	7	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:61729431C>T	ENST00000401558.2	-	5	1043	c.316G>A	c.(316-318)Gtt>Att	p.V106I	XPO1_ENST00000404992.2_Missense_Mutation_p.V106I|XPO1_ENST00000406957.1_Missense_Mutation_p.V106I	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	106	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGGCCAACAACGTATTTTTTT	0.308			Mis		CLL																																p.V106I		.	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	.	XPO1-229	0			c.G316A						.						55	55	55					2																	61729431		2203	4300	6503	SO:0001583	missense	7514	exon5			CAACAACGTATTT	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.316G>A	2.37:g.61729431C>T	ENSP00000384863:p.Val106Ile	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	89	6	NM_003400	0	0	43	43	0	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830730	0.32329	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957;ENST00000451765;ENST00000443240	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.09	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	N	0.02142	-0.665	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46119	-0.9214	10	0.02654	T	1	-22.524	20.2265	0.98340	0.0:1.0:0.0:0.0	.	106	O14980	XPO1_HUMAN	I	106	ENSP00000384863:V106I;ENSP00000385942:V106I;ENSP00000385559:V106I;ENSP00000413853:V106I;ENSP00000406428:V106I	ENSP00000384863:V106I	V	-	1	0	XPO1	61582935	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	7.811000	0.86092	2.885000	0.99019	0.579000	0.79373	GTT	.		0.308	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		T	61729431	C	T	61729431	3	4	52	1	0	0	0	0	1	0	0	0	17494	536	19	1	2983	1	XPO1	2	61729431	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14021532	61729431	181469942	63	10714											
ARHGAP25	9938	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	69049670	69049670	+	Frame_Shift_Del	DEL	A	A	-													gcagcaaaatggagatctttAaaaatgaattctggtcgcct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:69049670delA	ENST00000295381.3	+	10	1815	c.1396delA	c.(1396-1398)aaafs	p.K466fs	ARHGAP25_ENST00000409030.3_Frame_Shift_Del_p.K459fs|ARHGAP25_ENST00000409220.1_Frame_Shift_Del_p.K460fs|ARHGAP25_ENST00000467265.1_Frame_Shift_Del_p.K427fs|ARHGAP25_ENST00000479844.1_Frame_Shift_Del_p.K160fs|ARHGAP25_ENST00000409202.3_Frame_Shift_Del_p.K467fs	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	466					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGAGATCTTTAAAAATGAATT	0.473																																					p.K467fs		.											.	ARHGAP25-274	0			c.1399delA						.						82	85	84					2																	69049670		2203	4300	6503	SO:0001589	frameshift_variant	9938	exon10			ATCTTTAAAAATG	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1396delA	2.37:g.69049670delA	ENSP00000295381:p.Lys466fs	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	110	34	NM_001007231	0	0	0	0	0	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Frame_Shift_Del	DEL	ENST00000295381.3	37																																																																																				.		0.473	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		-	69049670	A	-	69049670	7	5	52	1	0	1	0	1	0	0	0	0	874	363	13	0	1477	0	ARHGAP25	2	69049670	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	7320239	69049670	174149703	64	10715											
STAMBP	10617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	74058012	74058012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggagatgtgagcctccCgcccgaagaccgggtgaggg	16	12	0	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:74058012C>T	ENST00000394070.2	+	2	532	c.29C>T	c.(28-30)cCg>cTg	p.P10L	STAMBP_ENST00000394073.1_Missense_Mutation_p.P10L|STAMBP_ENST00000409707.1_Missense_Mutation_p.P10L|STAMBP_ENST00000339566.3_Missense_Mutation_p.P10L|STAMBP_ENST00000536064.1_Missense_Mutation_p.P10L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	10	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GTGAGCCTCCCGCCCGAAGAC	0.537																																					p.P10L		.											.	STAMBP-524	0			c.C29T						.						52	52	52					2																	74058012		2203	4300	6503	SO:0001583	missense	10617	exon3			GCCTCCCGCCCGA	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.29C>T	2.37:g.74058012C>T	ENSP00000377633:p.Pro10Leu	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	77	65	NM_006463	0	0	0	19	19	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407375	0.62399	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.45276	1.95;1.95;1.93;1.95;1.95;0.9	4.86	4.86	0.63082	.	0.055433	0.64402	D	0.000001	T	0.41073	0.1143	L	0.54323	1.7	0.80722	D	1	B	0.18968	0.032	B	0.15052	0.012	T	0.20706	-1.0267	10	0.34782	T	0.22	-6.8688	17.3085	0.87202	0.0:1.0:0.0:0.0	.	10	O95630	STABP_HUMAN	L	10	ENSP00000344742:P10L;ENSP00000386548:P10L;ENSP00000413874:P10L;ENSP00000377636:P10L;ENSP00000377633:P10L;ENSP00000443502:P10L	ENSP00000344742:P10L	P	+	2	0	STAMBP	73911520	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	4.344000	0.59354	2.687000	0.91594	0.655000	0.94253	CCG	.		0.537	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		T	74058012	C	T	74058012	3	4	52	1	0	0	0	0	1	0	0	0	15297	652	23	1	31	1	STAMBP	2	74058012	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5008342	74058012	169141361	65	10716											
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	74763595	74763595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccctttagacggacacGggcctatagaagagagaagt	13	10	0	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:74763595G>A	ENST00000264094.3	-	6	987	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	LOXL3_ENST00000393937.2_Missense_Mutation_p.R161C|LOXL3_ENST00000409249.1_Missense_Mutation_p.R306C|LOXL3_ENST00000409549.1_Missense_Mutation_p.R306C|LOXL3_ENST00000409986.1_Missense_Mutation_p.R161C	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	306					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGACGGACACGGGCCTATAGA	0.597																																					p.R306C		.											.	LOXL3-226	0			c.C916T						.						23	21	22					2																	74763595		2202	4300	6502	SO:0001583	missense	84695	exon6			GGACACGGGCCTA	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.916C>T	2.37:g.74763595G>A	ENSP00000264094:p.Arg306Cys	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	60	50	NM_032603	0	0	0	0	0	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271910|1.271910	0.23221|0.23221	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000420535|ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62	4.9|4.9	2.1|2.1	0.27182|0.27182	.|Speract/scavenger receptor-related (1);	.|0.417580	.|0.26035	.|N	.|0.026724	T|T	0.25082|0.25082	0.0609|0.0609	L|L	0.52905|0.52905	1.665|1.665	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;P	.|0.49358	.|0.006;0.0;0.03;0.923	.|B;B;B;B	.|0.40410	.|0.003;0.001;0.008;0.328	T|T	0.02683|0.02683	-1.1124|-1.1124	5|10	.|0.56958	.|D	.|0.05	.|.	6.5078|6.5078	0.22204|0.22204	0.1617:0.0:0.6933:0.145|0.1617:0.0:0.6933:0.145	.|.	.|161;306;161;306	.|B9A025;E7END4;Q6IPL7;P58215	.|.;.;.;LOXL3_HUMAN	L|C	32|306;306;161;306;161	.|ENSP00000264094:R306C;ENSP00000387103:R306C;ENSP00000377512:R161C;ENSP00000386696:R306C;ENSP00000386545:R161C	.|ENSP00000264094:R306C	P|R	-|-	2|1	0|0	LOXL3|LOXL3	74617103|74617103	0.594000|0.594000	0.26849|0.26849	0.390000|0.390000	0.26220|0.26220	0.028000|0.028000	0.11728|0.11728	3.770000|3.770000	0.55310|0.55310	0.345000|0.345000	0.23873|0.23873	-0.222000|-0.222000	0.12452|0.12452	CCG|CGT	.		0.597	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		A	74763595	G	A	74763595	3	1	52	1	0	0	0	0	1	0	0	0	8936	1116	39	1	1381	1	LOXL3	2	74763595	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	705583	74763595	168435778	66	10717											
GNLY	10578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	85922477	85922477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgagccctgagtactaCgacctggcaagagcccacct	10	15	1	3	rs201139886	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:85922477C>T	ENST00000263863.4	+	2	215	c.87C>T	c.(85-87)taC>taT	p.Y29Y	GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Silent_p.Y56Y|GNLY_ENST00000409696.3_Silent_p.Y14Y	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	29					cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CTGAGTACTACGACCTGGCAA	0.622													C|||	5	0.000998403	0	0	5008	,	,		19417	0.001		0	False		,,,				2504	0.0041				p.Y29Y		.											.	GNLY-90	0			c.C87T						.						86	70	75					2																	85922477		2203	4300	6503	SO:0001819	synonymous_variant	10578	exon2			GTACTACGACCTG	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"T-lymphocyte activation gene 519"	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.87C>T	2.37:g.85922477C>T		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	145	128	NM_006433	0	0	0	1	1	P09325|Q6GU08	Silent	SNP	ENST00000263863.4	37	CCDS1984.1																																																																																			C|0.999;T|0.000		0.622	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		T	85922477	C	T	85922477	2	4	52	1	0	0	0	0	0	0	0	1	6565	547	19	1		1	GNLY	2	85922477	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	11158882	85922477	157276896	67	10718											
GNLY	10578	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	85924745	85924745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacccagggcctcgtggcCggagaaactgcccagcagat	13	13	0	2	rs147680816		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:85924745C>T	ENST00000263863.4	+	4	500	c.372C>T	c.(370-372)gcC>gcT	p.A124A	GNLY_ENST00000524600.1_Silent_p.A151A|GNLY_ENST00000409696.3_Silent_p.A109A	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	124	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						GCCTCGTGGCCGGAGAAACTG	0.572																																					p.A124A		.											.	GNLY-90	0			c.C372T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	84	76	79		372,327	-2.6	0	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GNLY	NM_006433.3,NM_012483.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	124/146,109/131	85924745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10578	exon4			CGTGGCCGGAGAA	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"T-lymphocyte activation gene 519"	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.372C>T	2.37:g.85924745C>T		Somatic	132	2		WXS	Illumina GAIIx	Phase_I	118	103	NM_006433	0	0	3	3	0	P09325|Q6GU08	Silent	SNP	ENST00000263863.4	37	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	C	2.485	-0.318853	0.05386	2.27E-4	0.0	ENSG00000115523	ENST00000526018	.	.	.	1.9	-2.64	0.06114	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	2.9317	0.05802	0.216:0.1689:0.0:0.6151	.	.	.	.	L	91	.	.	P	+	2	0	GNLY	85778256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.347000	0.07750	-0.658000	0.05366	-1.267000	0.01435	CCG	C|1.000;T|0.000		0.572	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		T	85924745	C	T	85924745	2	4	52	1	0	0	0	0	0	0	0	1	6565	639	23	1		1	GNLY	2	85924745	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2268	85924745	157274628	68	10719											
POU3F3	5455	hgsc.bcm.edu	37	chr2	105472055	105472055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcggacgcggcaggggcTggcggcggcgggggtggcgg	24	11	0	0	rs186512421		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:105472055T>C	ENST00000361360.2	+	1	87	c.87T>C	c.(85-87)gcT>gcC	p.A29A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	29	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						cggcaggggctggcggcggcg	0.806																																					p.A29A		.											.	POU3F3-45	0			c.T87C						.						1	1	1					2																	105472055		328	609	937	SO:0001819	synonymous_variant	5455	exon1			AGGGGCTGGCGGC		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.87T>C	2.37:g.105472055T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_006236	0	0	0	0	0	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																			T|0.299;C|0.701		0.806	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			C	105472055	T	C	105472055	2	2	52	1	0	0	0	0	0	0	0	1	12315	1567	55	4		4	POU3F3	2	105472055	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	19547310	105472055	137727318	69	10720											
RGPD3	653489	bcgsc.ca	37	chr2	107049414	107049414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggcctttacttcttggcGaatcattttcagtaaagaat	7	7	3	1	rs199953271		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:107049414G>A	ENST00000409886.3	-	17	2533	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	RGPD3_ENST00000304514.7_Missense_Mutation_p.R816C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	816					protein targeting to Golgi (GO:0000042)			p.R816C(44)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACTTCTTGGCGAATCATTTTC	0.343																																					p.R816C		.											.	RGPD3-23	44	Substitution - Missense(44)	endometrium(44)	c.C2446T						.						2	2	2					2																	107049414		518	1207	1725	SO:0001583	missense	653489	exon17			CTTGGCGAATCAT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2446C>T	2.37:g.107049414G>A	ENSP00000386588:p.Arg816Cys	Somatic	675	7		WXS	Illumina GAIIx	Phase_I	551	67	NM_001144013	0	0	0	0	0	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.016333	0.00418	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.19532	2.14;2.14	2.34	2.34	0.29019	.	.	.	.	.	T	0.04048	0.0113	N	0.00146	-1.995	0.27625	N	0.948219	B	0.02656	0.0	B	0.01281	0.0	T	0.38779	-0.9645	9	0.21014	T	0.42	-2.8232	5.7003	0.17879	0.8499:0.0:0.1501:0.0	.	816	A6NKT7	RGPD3_HUMAN	C	816;574;816	ENSP00000386588:R816C;ENSP00000303659:R816C	ENSP00000303659:R816C	R	-	1	0	RGPD3	106415846	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	6.098000	0.71458	0.158000	0.19367	-1.467000	0.01014	CGC	.		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107049414	G	A	107049414	3	1	52	1	0	0	0	0	1	0	0	0	13332	1058	37	1	2858	1	RGPD3	2	107049414	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1577359	107049414	136149959	70	10721											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459762	107459762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtcaggtaatccttcatCgccttctgcaggcgcgggtt	13	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:107459762C>T	ENST00000409382.3	-	2	1282	c.672G>A	c.(670-672)gcG>gcA	p.A224A	ST6GAL2_ENST00000361686.4_Silent_p.A224A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.A224A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	224					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AATCCTTCATCGCCTTCTGCA	0.647																																					p.A224A		.											.	ST6GAL2-191	0			c.G672A						.						35	36	36					2																	107459762		2202	4300	6502	SO:0001819	synonymous_variant	84620	exon2			CTTCATCGCCTTC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.672G>A	2.37:g.107459762C>T		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																			.		0.647	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107459762	C	T	107459762	2	4	52	1	0	0	0	0	0	0	0	1	15269	871	31	1		1	ST6GAL2	2	107459762	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	410348	107459762	135739611	71	10722											
GCC2	9648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	109124031	109124031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtgaggaagaaaatgCttcccgttcttctggatggg	13	7	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:109124031C>T	ENST00000309863.6	+	23	5714	c.5000C>T	c.(4999-5001)gCt>gTt	p.A1667V	AC012487.2_ENST00000322353.3_RNA	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1667	Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAAGAAAATGCTTCCCGTTCT	0.294																																					p.A1667V		.											.	GCC2-91	0			c.C5000T						.						108	99	102					2																	109124031		2203	4300	6503	SO:0001583	missense	9648	exon23			AAAATGCTTCCCG	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.5000C>T	2.37:g.109124031C>T	ENSP00000307939:p.Ala1667Val	Somatic	381	1		WXS	Illumina GAIIx	Phase_I	228	191	NM_181453	0	0	0	1	1	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	-	15.31	2.795977	0.50208	.	.	ENSG00000135968	ENST00000309863	T	0.33216	1.42	4.73	1.64	0.23874	.	0.368443	0.25935	N	0.027345	T	0.16854	0.0405	N	0.14661	0.345	0.20638	N	0.999874	B	0.24823	0.112	B	0.21708	0.036	T	0.19778	-1.0295	10	0.56958	D	0.05	.	9.4244	0.38570	0.0:0.5161:0.4069:0.077	.	1667	Q8IWJ2	GCC2_HUMAN	V	1667	ENSP00000307939:A1667V	ENSP00000307939:A1667V	A	+	2	0	GCC2	108490463	0.042000	0.20092	0.993000	0.49108	0.994000	0.84299	0.621000	0.24418	0.516000	0.28340	0.550000	0.68814	GCT	.		0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109124031	C	T	109124031	3	4	52	1	0	0	0	0	1	0	0	0	6311	797	28	3	5090	3	GCC2	2	109124031	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1664269	109124031	134075342	72	10723											
EN1	2019	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-													gccgcttgtcctccttctcgTtcttcttcttcttcagcttc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TTC	TTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68																																					p.298_299del		.											.	EN1-154	0			c.894_896del						.			30,4196		1,28,2084						3.8	1			19	68,8142		2,64,4039	no	coding	EN1	NM_001426.3		3,92,6123	A1A1,A1R,RR		0.8283,0.7099,0.788				98,12338				SO:0001651	inframe_deletion	2019	exon2			TTCTCGTTCTTCT	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.894_896delGAA	2.37:g.119600806_119600808delTTC	ENSP00000295206:p.Lys298del	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	30	19	NM_001426	0	0	0	0	0	Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	CCDS2123.1																																																																																			.		0.68	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			-	119600799	TTC	-	119600797	7	5	52	1	0	1	0	1	0	0	0	0	5125	1725	60	0	286	0	EN1	2	119600797	In_Frame_Del	DEL	TTC	TCGA-OR-A5LJ-01A-11D-A29I-10	10476766	119600797	123598576	73	10724											
UGGT1	56886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128945079	128945079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgtgcggattgtcccGgagtggcaggactacgacca	15	11	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:128945079G>A	ENST00000259253.6	+	40	4580	c.4533G>A	c.(4531-4533)ccG>ccA	p.P1511P	UGGT1_ENST00000375990.3_Silent_p.P1487P|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1511	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGATTGTCCCGGAGTGGCAGG	0.468																																					p.P1511P		.											.	UGGT1-91	0			c.G4533A						.						59	57	57					2																	128945079		2203	4300	6503	SO:0001819	synonymous_variant	56886	exon40			TGTCCCGGAGTGG	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.4533G>A	2.37:g.128945079G>A		Somatic	312	1		WXS	Illumina GAIIx	Phase_I	252	45	NM_020120	0	0	16	18	2	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	6.469	0.454656	0.12283	.	.	ENSG00000136731	ENST00000418197	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.41534	0.1163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61724	-0.7004	4	.	.	.	.	4.8905	0.13724	0.0905:0.3903:0.1439:0.3753	.	.	.	.	R	87	.	.	G	+	1	0	UGGT1	128661549	0.000000	0.05858	0.007000	0.13788	0.774000	0.43823	-2.143000	0.01297	-5.130000	0.00021	-2.297000	0.00262	GGA	.		0.468	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128945079	G	A	128945079	2	1	52	1	0	0	0	0	0	0	0	1	16990	1103	39	1		1	UGGT1	2	128945079	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9344282	128945079	114254294	74	10725											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	162813676	162813676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccaaatttctcggcattCgggagcaaagggttactggg	12	9	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:162813676C>T	ENST00000446997.1	+	20	2812	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	SLC4A10_ENST00000375514.5_Missense_Mutation_p.R888W|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R907W|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R877W|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R877W	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	907					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)	TCTCGGCATTCGGGAGCAAAG	0.418																																					p.R907W		.											.	SLC4A10-229	0			c.C2719T						.						66	67	67					2																	162813676		2032	4236	6268	SO:0001583	missense	57282	exon20			GGCATTCGGGAGC		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.2719C>T	2.37:g.162813676C>T	ENSP00000393066:p.Arg907Trp	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	110	10	NM_001178015	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064824	0.76187	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.28	4.39	0.52855	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.995;0.999	D	0.95241	0.8351	10	0.87932	D	0	.	15.7686	0.78146	0.1371:0.8629:0.0:0.0	.	888;877;907	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	W	888;877;877;876;907;907;906	ENSP00000364664:R888W;ENSP00000395797:R877W;ENSP00000272716:R877W;ENSP00000393066:R907W;ENSP00000404486:R907W	ENSP00000272716:R877W	R	+	1	2	SLC4A10	162521922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.381000	0.34362	1.314000	0.45095	0.655000	0.94253	CGG	.		0.418	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		T	162813676	C	T	162813676	3	4	52	1	0	0	0	0	1	0	0	0	14696	875	31	1	2882	1	SLC4A10	2	162813676	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	33868597	162813676	80385697	75	10726											
KCNH7	90134	hgsc.bcm.edu;broad.mit.edu	37	chr2	163236465	163236465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcagctcgctgaagtgcaGatggactggagtcttcaggc	15	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:163236465G>C	ENST00000332142.5	-	14	3128	c.3029C>G	c.(3028-3030)tCt>tGt	p.S1010C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1010					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)	CTGAAGTGCAGATGGACTGGA	0.498																																					p.S1010C	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7-95	0			c.C3029G						.						198	183	188					2																	163236465		2203	4300	6503	SO:0001583	missense	90134	exon14			AGTGCAGATGGAC	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.3029C>G	2.37:g.163236465G>C	ENSP00000331727:p.Ser1010Cys	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	123	8	NM_033272	0	0	0	0	0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675925	0.29783	.	.	ENSG00000184611	ENST00000332142	D	0.98684	-5.07	5.73	5.73	0.89815	.	0.614723	0.17548	N	0.170281	D	0.96442	0.8839	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.92027	0.5630	10	0.56958	D	0.05	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	1010	Q9NS40	KCNH7_HUMAN	C	1010	ENSP00000331727:S1010C	ENSP00000331727:S1010C	S	-	2	0	KCNH7	162944711	1.000000	0.71417	0.985000	0.45067	0.049000	0.14656	7.066000	0.76734	2.720000	0.93068	0.591000	0.81541	TCT	.		0.498	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163236465	G	C	163236465	3	2	52	1	0	0	0	0	1	0	0	0	8064	942	33	3	573	3	KCNH7	2	163236465	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	422789	163236465	79962908	76	10727											
MYO3B	140469	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	171509587	171509587	+	Frame_Shift_Del	DEL	T	T	-													acaactcagcccacccttccTttttttcttcatcctcaaaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:171509587delT	ENST00000408978.4	+	35	4125	c.3982delT	c.(3982-3984)tttfs	p.F1329fs	MYO3B_ENST00000409044.3_Frame_Shift_Del_p.F1302fs|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000334231.6_Frame_Shift_Del_p.F1338fs|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1329					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						CCACCCTTCCTTTTTTTCTTC	0.413																																					p.F1328fs		.											.	MYO3B-530	0			c.3982delT						.						145	140	141					2																	171509587		1845	4099	5944	SO:0001589	frameshift_variant	140469	exon35			CCTTCCTTTTTTT		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.3982delT	2.37:g.171509587delT	ENSP00000386213:p.Phe1329fs	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	94	40	NM_138995	0	0	0	0	0	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Del	DEL	ENST00000408978.4	37	CCDS42773.1																																																																																			.		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			-	171509587	T	-	171509587	7	5	52	1	0	1	0	1	0	0	0	0	10115	1609	56	0	4246	0	MYO3B	2	171509587	Frame_Shift_Del	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	8273122	171509587	71689786	77	10728											
CDCA7	83879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	174228042	174228042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgaagtttccagcgcGgagtaccaggggagcaacca	15	10	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:174228042G>A	ENST00000347703.3	+	3	380	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	CDCA7_ENST00000410101.3_Missense_Mutation_p.R114Q|CDCA7_ENST00000306721.3_Missense_Mutation_p.R158Q|CDCA7_ENST00000392567.2_Missense_Mutation_p.R79Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.R37Q	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	79					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)			TTTCCAGCGCGGAGTACCAGG	0.542																																					p.R158Q		.											.	CDCA7-91	0			c.G473A						.						67	72	70					2																	174228042		2203	4300	6503	SO:0001583	missense	83879	exon4			CAGCGCGGAGTAC	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.236G>A	2.37:g.174228042G>A	ENSP00000272789:p.Arg79Gln	Somatic	337	0		WXS	Illumina GAIIx	Phase_I	214	29	NM_031942	0	0	0	0	0	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765946	0.49574	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.52057	0.76;0.68;0.8;0.74;0.76	5.93	4.07	0.47477	.	0.159487	0.45361	N	0.000370	T	0.37348	0.1000	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.25772	0.134;0.114;0.057;0.024	B;B;B;B	0.19391	0.011;0.023;0.011;0.025	T	0.27839	-1.0062	10	0.44086	T	0.13	-6.3713	8.0157	0.30379	0.1445:0.1279:0.7276:0.0	.	37;114;79;158	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	Q	79;79;158;114;37	ENSP00000272789:R79Q;ENSP00000376348:R79Q;ENSP00000306968:R158Q;ENSP00000386656:R114Q;ENSP00000386833:R37Q	ENSP00000306968:R158Q	R	+	2	0	CDCA7	173936288	1.000000	0.71417	0.053000	0.19242	0.078000	0.17371	4.052000	0.57420	1.462000	0.47948	0.655000	0.94253	CGG	.		0.542	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174228042	G	A	174228042	3	1	52	1	0	0	0	0	1	0	0	0	3097	1116	39	1	487	1	CDCA7	2	174228042	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2718455	174228042	68971331	78	10729											
TTN	7273	bcgsc.ca	37	chr2	179543217	179543217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggcttcttgggtacCtctggcactttaacgaaatg	11	10	2	0	rs35112591	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:179543217C>T	ENST00000591111.1	-	142	33107	c.32883G>A	c.(32881-32883)gaG>gaA	p.E10961E	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.E10034E|TTN_ENST00000589042.1_Silent_p.E11278E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33597	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E10034E(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)			TCTTGGGTACCTCTGGCACTT	0.373													C|||	1194	0.238419	0.1362	0.183	5008	,	,		13346	0.4454		0.1581	False		,,,				2504	0.2853				p.E11278E		.											.	TTN-636	1	Substitution - coding silent(1)	prostate(1)	c.G33834A						.	C	,,,	498,3178		42,414,1382	36	33	34		,30102,,	1.4	1	2	dbSNP_126	34	1313,6871		103,1107,2882	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	145,1521,4264	TT,TC,CC		16.0435,13.5473,15.2698	,,,	,10034/33424,,	179543217	1811,10049	1838	4092	5930	SO:0001819	synonymous_variant	7273	exon144			GGGTACCTCTGGC	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.32883G>A	2.37:g.179543217C>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				C|0.788;T|0.212		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179543217	C	T	179543217	2	4	52	1	0	0	0	0	0	0	0	1	16784	680	24	3		3	TTN	2	179543217	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5315175	179543217	63656156	79	10730											
NAB1	4664	bcgsc.ca	37	chr2	191524587	191524587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaccaacaagaagttgGccaaaatgattggtcacatc	7	8	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:191524587G>A	ENST00000337386.5	+	4	1146	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	NAB1_ENST00000357215.5_Missense_Mutation_p.A229T|NAB1_ENST00000545490.1_5'UTR|NAB1_ENST00000409581.1_Missense_Mutation_p.A229T|NAB1_ENST00000484774.1_3'UTR|NAB1_ENST00000409641.1_Missense_Mutation_p.A229T	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	229	NCD2.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CAAGAAGTTGGCCAAAATGAT	0.443																																					p.A229T		.											.	NAB1-226	0			c.G685A						.						68	63	65					2																	191524587		2203	4300	6503	SO:0001583	missense	4664	exon4			AAGTTGGCCAAAA		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.685G>A	2.37:g.191524587G>A	ENSP00000336894:p.Ala229Thr	Somatic	482	2		WXS	Illumina GAIIx	Phase_I	360	10	NM_005966	0	0	8	8	0	O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.416999|4.416999	0.83449|0.83449	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641|ENST00000434473	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	NAB co-repressor, domain (1);|.	0.051422|.	0.85682|.	D|.	0.000000|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;B;B|.	0.39520|.	0.676;0.012;0.012|.	B;B;B|.	0.43990|.	0.438;0.03;0.03|.	T|T	0.55909|0.55909	-0.8066|-0.8066	9|5	0.24483|.	T|.	0.36|.	-16.425|-16.425	13.5338|13.5338	0.61638|0.61638	0.0:0.0:0.8445:0.1555|0.0:0.0:0.8445:0.1555	.|.	229;229;229|.	F8W8J7;B8ZZS2;Q13506|.	.;.;NAB1_HUMAN|.	T|D	229|11	.|.	ENSP00000336894:A229T|.	A|G	+|+	1|2	0|0	NAB1|NAB1	191232832|191232832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.496000|7.496000	0.81526|0.81526	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCC|GGC	.		0.443	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		A	191524587	G	A	191524587	3	1	52	1	0	0	0	0	1	0	0	0	10169	1203	42	3	687	3	NAB1	2	191524587	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	11981370	191524587	51674786	80	10731											
ALS2CR8	79800	hgsc.bcm.edu	37	chr2	203817288	203817288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcttccaagatgatcGttgccagcccaacagaaaat	7	10	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:203817288G>A	ENST00000402905.3	+	5	634	c.313G>A	c.(313-315)Gtt>Att	p.V105I	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.V105I|CARF_ENST00000428585.1_Missense_Mutation_p.V29I|CARF_ENST00000434998.1_Missense_Mutation_p.V3I|CARF_ENST00000545262.1_Missense_Mutation_p.V29I|CARF_ENST00000320443.8_Missense_Mutation_p.V105I|CARF_ENST00000414439.1_Missense_Mutation_p.V3I|CARF_ENST00000456821.2_Missense_Mutation_p.V93I|CARF_ENST00000545253.1_Missense_Mutation_p.V17I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.V105I	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	105					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAAGATGATCGTTGCCAGCCC	0.358																																					p.V105I		.											.	ALS2CR8-136	0			c.G313A						.						137	121	126					2																	203817288		1843	4094	5937	SO:0001583	missense	79800	exon6			ATGATCGTTGCCA	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.313G>A	2.37:g.203817288G>A	ENSP00000384006:p.Val105Ile	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_024744	0	0	1	1	0	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627355	0.28978	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.46	2.67	0.31697	.	0.000000	0.50627	D	0.000105	T	0.36468	0.0968	L	0.38531	1.155	0.34528	D	0.70885	B;B;B;B;B	0.25667	0.025;0.004;0.131;0.025;0.056	B;B;B;B;B	0.17433	0.006;0.003;0.018;0.006;0.018	T	0.34229	-0.9837	9	0.44086	T	0.13	-5.2274	5.6501	0.17612	0.2354:0.1406:0.624:0.0	.	17;29;105;105;105	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	I	105;75;105;105;3;29;17;29;29;93;3;105;105	.	ENSP00000316224:V105I	V	+	1	0	ALS2CR8	203525533	1.000000	0.71417	0.586000	0.28679	0.620000	0.37586	2.284000	0.43478	0.272000	0.22027	-0.444000	0.05651	GTT	.		0.358	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		A	203817288	G	A	203817288	3	1	52	1	0	0	0	0	1	0	0	0	555	1145	40	1	323	1	ALS2CR8	2	203817288	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	12292701	203817288	39382085	81	10732											
ABCA12	26154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	215820071	215820071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccagcaagtacatccagGaaaatgttgcatacctgcag	9	11	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:215820071G>A	ENST00000272895.7	-	43	6467	c.6248C>T	c.(6247-6249)tCc>tTc	p.S2083F	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1765F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2083					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)		GTACATCCAGGAAAATGTTGC	0.438																																					p.S2083F	Ovarian(66;664 1488 5121 34295)	.											.	ABCA12-99	0			c.C6248T						.						76	71	72					2																	215820071		2203	4300	6503	SO:0001583	missense	26154	exon43			ATCCAGGAAAATG	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.6248C>T	2.37:g.215820071G>A	ENSP00000272895:p.Ser2083Phe	Somatic	219	0		WXS	Illumina GAIIx	Phase_I	201	161	NM_173076	0	0	0	0	0	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854446	0.91355	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.81415	-1.49;-1.49	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.88610	0.6483	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.976	D	0.88674	0.3197	10	0.87932	D	0	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	2083;1765	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	2083;1765	ENSP00000272895:S2083F;ENSP00000374312:S1765F	ENSP00000272895:S2083F	S	-	2	0	ABCA12	215528316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.834000	0.97654	0.650000	0.86243	TCC	.		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215820071	G	A	215820071	3	1	52	1	0	0	0	0	1	0	0	0	30	1174	41	3	1583	3	ABCA12	2	215820071	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	12002783	215820071	27379302	82	10733											
TNS1	7145	hgsc.bcm.edu	37	chr2	218712886	218712887	+	In_Frame_Ins	INS	-	-	GCT													ctggcgtggaggtgggcgagINSgctgctgctgctgctgctgc					rs375721540|rs61747065|rs3839056|rs574153391	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:218712886_218712887insGCT	ENST00000171887.4	-	17	2430_2431	c.1978_1979insAGC	c.(1978-1980)cct>cAGCct	p.659_660insQ	TNS1_ENST00000419504.1_In_Frame_Ins_p.659_660insQ|TNS1_ENST00000430930.1_In_Frame_Ins_p.659_660insQ|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGTGGGCGAGgctgctgctgc	0.663																																					p.P660delinsQP		.											.	TNS1-156	0			c.1979_1980insAGC						.																																			SO:0001652	inframe_insertion	7145	exon17			GGGCGAGGCTGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978dupAGC	2.37:g.218712893_218712895dupGCT	ENSP00000171887:p.Gln659_Gln659dup	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	66	37	NM_022648	0	0	0	0	0	Q4ZG71|Q6IPI5	In_Frame_Ins	INS	ENST00000171887.4	37	CCDS2407.1																																																																																			.		0.663	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		GCT	218712887	-	GCT	218712886	7	5	52	1	0	1	1	0	0	0	0	0	16390	1000	35	0	3296	0	TNS1	2	218712886	In_Frame_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	2892815	218712886	24486487	83	10734											
CCDC108	255101	hgsc.bcm.edu;bcgsc.ca	37	chr2	219892999	219892999	+	Frame_Shift_Del	DEL	G	G	-													gcatggcatccaggatgtcaGgggggtagagcgtcaggccc					rs375880549		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:219892999delG	ENST00000341552.5	-	12	1858	c.1775delC	c.(1774-1776)cctfs	p.P592fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P592fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P581fs|CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P527fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P592fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	592						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGATGTCAGGGGGGTAGAG	0.627																																					p.P592fs		.											.	CCDC108-94	0			c.1775delC						.						85	89	87					2																	219892999		2203	4300	6503	SO:0001589	frameshift_variant	255101	exon12			ATGTCAGGGGGGT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1775delC	2.37:g.219892999delG	ENSP00000340776:p.Pro592fs	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	95	78	NM_194302	0	0	0	0	0	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	CCDS2430.2																																																																																			.		0.627	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		-	219892999	G	-	219892999	7	5	52	1	0	1	0	1	0	0	0	0	2750	1000	35	0	4098	0	CCDC108	2	219892999	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1180113	219892999	23306374	84	10735											
LRRFIP1	9208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	238617211	238617211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccggctcgctgcaaaaCgggcggcccgcgcggaggct	16	15	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:238617211C>T	ENST00000392000.4	+	2	208	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.R31W|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.R31W|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R41W	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	31					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)		CGCTGCAAAACGGGCGGCCCG	0.617																																					p.R41W		.											.	LRRFIP1-153	0			c.C121T						.						17	20	19					2																	238617211		2203	4298	6501	SO:0001583	missense	9208	exon2			GCAAAACGGGCGG	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.91C>T	2.37:g.238617211C>T	ENSP00000375857:p.Arg31Trp	Somatic	246	1		WXS	Illumina GAIIx	Phase_I	304	238	NM_001137550	0	0	1	3	2	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079713	0.55753	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000420665;ENST00000392000	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.64	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.85197	2.74	0.51767	D	0.999935	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;0.998	T	0.80183	-0.1488	10	0.87932	D	0	-8.6955	12.5346	0.56135	0.1773:0.8227:0.0:0.0	.	31;31;31;31;41	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	W	41;31;31;31;31;31	ENSP00000310109:R41W;ENSP00000289175:R31W;ENSP00000244815:R31W;ENSP00000409431:R31W;ENSP00000375857:R31W	ENSP00000244815:R31W	R	+	1	2	LRRFIP1	238281950	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	2.349000	0.44054	2.657000	0.90304	0.655000	0.94253	CGG	.		0.617	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		T	238617211	C	T	238617211	3	4	52	1	0	0	0	0	1	0	0	0	9062	527	19	1	197	1	LRRFIP1	2	238617211	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	18724212	238617211	4582162	85	10736											
GPC1	2817	broad.mit.edu;bcgsc.ca	37	chr2	241401648	241401648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgactcggagcggacgctGcaggccaccttccccggcgc	13	17	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr2:241401648G>A	ENST00000264039.2	+	3	614	c.366G>A	c.(364-366)ctG>ctA	p.L122L		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	122					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)		AGCGGACGCTGCAGGCCACCT	0.672																																					p.L122L		.											.	GPC1-153	0			c.G366A						.						18	22	21					2																	241401648		2189	4293	6482	SO:0001819	synonymous_variant	2817	exon3			GACGCTGCAGGCC	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.366G>A	2.37:g.241401648G>A		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	154	7	NM_002081	0	0	80	85	5	B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.359|3.359	-0.130822|-0.130822	0.06753|0.06753	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000427506;ENST00000425056	.|.	.|.	.|.	3.1|3.1	-1.77|-1.77	0.07982|0.07982	.|.	.|.	.|.	.|.	.|.	T|T	0.40094|0.40094	0.1103|0.1103	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29181|0.29181	-1.0020|-1.0020	4|4	.|.	.|.	.|.	-5.5762|-5.5762	2.0139|2.0139	0.03493|0.03493	0.1135:0.1577:0.2498:0.479|0.1135:0.1577:0.2498:0.479	.|.	.|.	.|.	.|.	T|Y	162|79;118	.|.	.|.	A|C	+|+	1|2	0|0	GPC1|GPC1	241050321|241050321	0.997000|0.997000	0.39634|0.39634	0.010000|0.010000	0.14722|0.14722	0.290000|0.290000	0.27261|0.27261	0.243000|0.243000	0.18106|0.18106	-0.140000|-0.140000	0.11394|0.11394	0.586000|0.586000	0.80456|0.80456	GCA|TGC	.		0.672	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		A	241401648	G	A	241401648	2	1	52	1	0	0	0	0	0	0	0	1	6623	1306	46	3		3	GPC1	2	241401648	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2784437	241401648	1797725	86	10737											
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	447311	447311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaagatggatcatttAttggtgcctacgctggatct	11	7	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:447311A>G	ENST00000256509.2	+	28	4234	c.3592A>G	c.(3592-3594)Att>Gtt	p.I1198V	CHL1_ENST00000397491.2_Missense_Mutation_p.I1182V	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)		TGGATCATTTATTGGTGCCTA	0.458																																					p.I1198V		.											.	CHL1-583	0			c.A3592G						.						147	139	142					3																	447311		2203	4300	6503	SO:0001583	missense	10752	exon28			TCATTTATTGGTG	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.3592A>G	3.37:g.447311A>G	ENSP00000256509:p.Ile1198Val	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	75	62	NM_006614	0	0	0	4	4	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985220	0.74474	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.91894	-2.93;-2.93	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.88906	2.99	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.97358	0.9968	10	0.87932	D	0	.	15.9875	0.80174	1.0:0.0:0.0:0.0	.	1182;1198	O00533;O00533-2	CHL1_HUMAN;.	V	1198;1182	ENSP00000256509:I1198V;ENSP00000380628:I1182V	ENSP00000256509:I1198V	I	+	1	0	CHL1	422311	1.000000	0.71417	0.467000	0.27180	0.490000	0.33462	8.484000	0.90445	2.168000	0.68352	0.533000	0.62120	ATT	.		0.458	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		G	447311	A	G	447311	3	3	52	1	0	0	0	0	1	0	0	0	3356	449	16	4	3694	4	CHL1	3	447311	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10		447311	197575119	87	10738											
IL17RE	132014	broad.mit.edu	37	chr3	9953188	9953190	+	In_Frame_Del	DEL	CTC	CTC	-													cagcagctgattcttcacttCtcctcaagaatgcatgccac					rs148568377		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:9953188_9953190delCTC	ENST00000383814.3	+	12	1239_1241	c.1134_1136delCTC	c.(1132-1137)ttctcc>ttc	p.S380del	IL17RE_ENST00000454190.2_In_Frame_Del_p.S380del|IL17RE_ENST00000295980.3_In_Frame_Del_p.S380del|IL17RE_ENST00000421412.1_In_Frame_Del_p.S413del	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	380					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TTCTTCACTTCTCCTCAAGAATG	0.581																																					p.418_419del		.											.	IL17RE-90	0			c.1254_1256del						.																																			SO:0001651	inframe_deletion	132014	exon13			TCACTTCTCCTCA	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1134_1136delCTC	3.37:g.9953191_9953193delCTC	ENSP00000373325:p.Ser380del	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	276	15	NM_153483	0	0	0	0	0	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	In_Frame_Del	DEL	ENST00000383814.3	37	CCDS2589.1																																																																																			.		0.581	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		-	9953190	CTC	-	9953188	7	5	52	1	0	1	0	1	0	0	0	0	7670	912	32	0	1180	0	IL17RE	3	9953188	In_Frame_Del	DEL	CTC	TCGA-OR-A5LJ-01A-11D-A29I-10	9505877	9953188	188069242	88	10739											
IRAK2	3656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	10219666	10219666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgtggacctcctgtgccGcctggagctctaccgggctg	13	14	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:10219666G>A	ENST00000256458.4	+	2	329	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	80	Death.				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						CTCCTGTGCCGCCTGGAGCTC	0.637																																					p.R80H		.											.	IRAK2-574	0			c.G239A						.						58	54	55					3																	10219666		2203	4300	6503	SO:0001583	missense	3656	exon2			TGTGCCGCCTGGA	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.239G>A	3.37:g.10219666G>A	ENSP00000256458:p.Arg80His	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	96	9	NM_001570	0	0	0	0	0	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.786043	0.02907	.	.	ENSG00000134070	ENST00000256458	D	0.85484	-1.99	5.11	-8.13	0.01073	Death (1);DEATH-like (2);	1.262300	0.05476	N	0.554004	T	0.71796	0.3382	N	0.08118	0	0.09310	N	0.999995	B	0.13145	0.007	B	0.06405	0.002	T	0.58896	-0.7555	10	0.21540	T	0.41	-5.4863	21.0966	0.99945	0.1582:0.0:0.8418:0.0	.	80	O43187	IRAK2_HUMAN	H	80	ENSP00000256458:R80H	ENSP00000256458:R80H	R	+	2	0	IRAK2	10194666	0.000000	0.05858	0.200000	0.23457	0.881000	0.50899	-1.272000	0.02826	-2.401000	0.00578	-1.564000	0.00881	CGC	.		0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			A	10219666	G	A	10219666	3	1	52	1	0	0	0	0	1	0	0	0	7850	1087	38	1	245	1	IRAK2	3	10219666	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	266478	10219666	187802764	89	10740											
TMEM40	55287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	12778317	12778317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcaaagcacaggaggaCgaaatggaaaaactcatctg	12	7	2	0	rs201284335		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:12778317C>T	ENST00000314124.7	-	9	846	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	TMEM40_ENST00000431022.2_Missense_Mutation_p.V180I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V88I|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Missense_Mutation_p.V164I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V134I	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	164						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CACAGGAGGACGAAATGGAAA	0.537													C|||	1	0.000199681	0	0	5008	,	,		16875	0		0	False		,,,				2504	0.001				p.V164I		.											.	TMEM40-90	0			c.G490A						.						163	154	158					3																	12778317		2203	4300	6503	SO:0001583	missense	55287	exon9			GGAGGACGAAATG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.490G>A	3.37:g.12778317C>T	ENSP00000322837:p.Val164Ile	Somatic	398	0		WXS	Illumina GAIIx	Phase_I	460	54	NM_018306	0	0	1	1	0	C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294451	0.40594	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	5.23	3.39	0.38822	.	0.160657	0.29198	N	0.012853	T	0.21550	0.0519	N	0.17474	0.49	0.30845	N	0.735288	B;B;B;B	0.26577	0.078;0.025;0.153;0.078	B;B;B;B	0.17098	0.017;0.012;0.017;0.012	T	0.12167	-1.0558	9	0.23891	T	0.37	.	6.3107	0.21163	0.0:0.772:0.0:0.228	.	180;88;134;164	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	I	164;88;134;28;164;180	.	ENSP00000264728:V164I	V	-	1	0	TMEM40	12753317	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	1.669000	0.37492	1.171000	0.42768	0.467000	0.42956	GTC	C|0.999;T|0.001		0.537	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		T	12778317	C	T	12778317	3	4	52	1	0	0	0	0	1	0	0	0	16210	536	19	1	227	1	TMEM40	3	12778317	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2558651	12778317	185244113	90	10741											
EFHB	151651	bcgsc.ca	37	chr3	19961331	19961331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaataacttaccagtacTgaaattttagatctaattcc	4	7	1	3	rs2929362|rs386659061	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:19961331T>C	ENST00000295824.9	-	3	1151	c.990A>G	c.(988-990)tcA>tcG	p.S330S	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Silent_p.S200S	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	330							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTACCAGTACTGAAATTTTAG	0.338													T|||	983	0.196286	0.3177	0.1153	5008	,	,		16733	0.1081		0.1481	False		,,,				2504	0.2301				p.S330S		.											.	EFHB-22	0			c.A990G						.	T		24,4380		4,16,2182	84	94	90		990	1.3	0	3	dbSNP_101	90	14,8586		2,10,4288	no	coding-synonymous	EFHB	NM_144715.3		6,26,6470	CC,CT,TT		0.1628,0.545,0.2922		330/834	19961331	38,12966	2202	4300	6502	SO:0001819	synonymous_variant	151651	exon3			CAGTACTGAAATT	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.990A>G	3.37:g.19961331T>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	164	6	NM_144715	0	0	0	0	0	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	CCDS33715.2																																																																																			T|0.442;G|0.068;C|0.104;A|0.385		0.338	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		C	19961331	T	C	19961331	2	2	52	1	0	0	0	0	0	0	0	1	4959	1567	55	4		4	EFHB	3	19961331	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	7183014	19961331	178061099	91	10742											
NEK10	152110	broad.mit.edu	37	chr3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgcacaaagtaggcGcagcaactccgctgttagtc	12	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	275					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAGTAGGCGCAGCAACTCC	0.502																																					p.R275C		.											.	NEK10-695	0			c.C823T						.						44	41	42					3																	27346443		1568	3582	5150	SO:0001583	missense	152110	exon13			GTAGGCGCAGCAA	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.823C>T	3.37:g.27346443G>A	ENSP00000395849:p.Arg275Cys	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	87	3	NM_199347	0	0	0	0	0	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	G	14.46	2.541047	0.45280	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.51071	0.72	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67608	-0.5627	10	0.87932	D	0	.	14.7031	0.69168	0.0717:0.0:0.9283:0.0	.	275	Q6ZWH5	NEK10_HUMAN	C	275	ENSP00000343847:R275C	ENSP00000343847:R275C	R	-	1	0	NEK10	27321447	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	4.640000	0.61368	2.695000	0.91970	0.650000	0.86243	CGC	.		0.502	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		A	27346443	G	A	27346443	3	1	52	1	0	0	0	0	1	0	0	0	10361	1087	38	1	1367	1	NEK10	3	27346443	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7385112	27346443	170675987	92	10743											
CNOT10	25904	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	32774948	32774948	+	Frame_Shift_Del	DEL	A	A	-													aaactaaaggccttcccagcAaaaaaggaattgtacagtct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:32774948delA	ENST00000328834.5	+	11	1565	c.1249delA	c.(1249-1251)aaafs	p.K418fs	CNOT10_ENST00000538368.1_Frame_Shift_Del_p.K190fs|CNOT10_ENST00000331889.6_Frame_Shift_Del_p.K418fs|CNOT10_ENST00000454516.2_Frame_Shift_Del_p.K478fs|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	418					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CCTTCCCAGCAAAAAAGGAAT	0.313																																					p.K477fs		.											.	CNOT10-91	0			c.1429delA						.						79	83	82					3																	32774948		2203	4299	6502	SO:0001589	frameshift_variant	25904	exon11			CCCAGCAAAAAAG	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1249delA	3.37:g.32774948delA	ENSP00000330060:p.Lys418fs	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	169	48	NM_001256742	0	0	0	0	0	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Frame_Shift_Del	DEL	ENST00000328834.5	37	CCDS2655.1																																																																																			.		0.313	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		-	32774948	A	-	32774948	7	5	52	1	0	1	0	1	0	0	0	0	3625	131	5	0	1291	0	CNOT10	3	32774948	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	5428505	32774948	165247482	93	10744											
LRRFIP2	9209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	37107722	37107722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctaacatacctctcccGtcttcactgtctcctgcagg	6	15	4	0	rs148787856	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:37107722G>A	ENST00000336686.4	-	22	1639	c.1559C>T	c.(1558-1560)aCg>aTg	p.T520M	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.T520M|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421276.2_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	520					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TACCTCTCCCGTCTTCACTGT	0.473													G|||	2	0.000399361	0.0015	0	5008	,	,		20730	0		0	False		,,,				2504	0				p.T520M		.											.	LRRFIP2-91	1	Whole gene deletion(1)	ovary(1)	c.C1559T						.	G	,MET/THR,	8,4398	12.9+/-30.5	0,8,2195	186	166	173		,1559,	5.3	0.7	3	dbSNP_134	173	0,8600		0,0,4300	yes	intron,missense,intron	LRRFIP2	NM_001134369.1,NM_006309.2,NM_017724.2	,81,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,benign,	,520/722,	37107722	8,12998	2203	4300	6503	SO:0001583	missense	9209	exon23			TCTCCCGTCTTCA	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1559C>T	3.37:g.37107722G>A	ENSP00000338727:p.Thr520Met	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	146	15	NM_006309	0	0	3	3	0	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335516	0.24253	0.001816	0.0	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.43294	0.95;0.95	6.17	5.3	0.74995	.	0.447701	0.24813	N	0.035391	T	0.21631	0.0521	N	0.04959	-0.14	0.09310	N	1	B	0.24092	0.097	B	0.19391	0.025	T	0.12218	-1.0556	10	0.48119	T	0.1	-0.6185	8.328	0.32169	0.1387:0.1382:0.7231:0.0	.	520	Q9Y608	LRRF2_HUMAN	M	520	ENSP00000392217:T520M;ENSP00000338727:T520M	ENSP00000338727:T520M	T	-	2	0	LRRFIP2	37082726	0.987000	0.35691	0.690000	0.30148	0.980000	0.70556	2.235000	0.43044	1.634000	0.50500	0.655000	0.94253	ACG	G|1.000;A|0.000		0.473	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		A	37107722	G	A	37107722	3	1	52	1	0	0	0	0	1	0	0	0	9063	1145	40	1	634	1	LRRFIP2	3	37107722	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4332774	37107722	160914708	94	10745											
ITGA9	3680	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	37514857	37514857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagggaagaatcgggGcacgtcctgcggaaagacct	13	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:37514857G>A	ENST00000264741.5	+	3	582	c.326G>A	c.(325-327)gGc>gAc	p.G109D	ITGA9_ENST00000422441.1_Missense_Mutation_p.G109D	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	109					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)		AAGAATCGGGGCACGTCCTGC	0.587																																					p.G109D		.											.	ITGA9-715	0			c.G326A						.						54	55	54					3																	37514857		2203	4300	6503	SO:0001583	missense	3680	exon3			ATCGGGGCACGTC	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.326G>A	3.37:g.37514857G>A	ENSP00000264741:p.Gly109Asp	Somatic	184	2		WXS	Illumina GAIIx	Phase_I	274	117	NM_002207	0	0	1	1	0	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652771	0.88056	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.55413	0.52;0.52	5.55	5.55	0.83447	.	0.106321	0.64402	D	0.000004	T	0.56337	0.1978	N	0.16602	0.42	0.58432	D	0.999995	B;D	0.71674	0.439;0.998	B;D	0.69479	0.23;0.964	T	0.51803	-0.8659	10	0.19590	T	0.45	.	18.2718	0.90070	0.0:0.0:1.0:0.0	.	109;109	Q13797;E9PDS3	ITA9_HUMAN;.	D	109	ENSP00000397258:G109D;ENSP00000264741:G109D	ENSP00000264741:G109D	G	+	2	0	ITGA9	37489861	1.000000	0.71417	0.946000	0.38457	0.833000	0.47200	6.854000	0.75440	2.594000	0.87642	0.585000	0.79938	GGC	.		0.587	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		A	37514857	G	A	37514857	3	1	52	1	0	0	0	0	1	0	0	0	7910	1203	42	3	336	3	ITGA9	3	37514857	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	407135	37514857	160507573	95	10746											
SCN5A	6331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38618243	38618243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggtcatgtctgctgtGctgccctcggagcaactgtc	13	11	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:38618243G>A	ENST00000333535.4	-	19	3569	c.3420C>T	c.(3418-3420)agC>agT	p.S1140S	SCN5A_ENST00000443581.1_Silent_p.S1139S|SCN5A_ENST00000451551.2_Silent_p.S1086S|SCN5A_ENST00000413689.1_Silent_p.S1140S|SCN5A_ENST00000455624.2_Silent_p.S1139S|SCN5A_ENST00000423572.2_Silent_p.S1139S|SCN5A_ENST00000449557.2_Silent_p.S1086S|SCN5A_ENST00000450102.2_Silent_p.S1086S|SCN5A_ENST00000414099.2_Silent_p.S1140S|SCN5A_ENST00000425664.1_Silent_p.S1140S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1140					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)	TGTCTGCTGTGCTGCCCTCGG	0.602																																					p.S1140S		.											.	SCN5A-98	0			c.C3420T						.						46	52	50					3																	38618243		2161	4268	6429	SO:0001819	synonymous_variant	6331	exon19			TGCTGTGCTGCCC	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.3420C>T	3.37:g.38618243G>A		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	154	60	NM_198056	0	0	0	0	0	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																			.		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38618243	G	A	38618243	2	1	52	1	0	0	0	0	0	0	0	1	13967	1310	46	3		3	SCN5A	3	38618243	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1103386	38618243	159404187	96	10747											
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41266104	41266104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtcttacctggactctgGaatccattctggtgccacta	8	12	3	0	rs28931589|rs121913416		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:41266104G>A	ENST00000349496.5	+	3	381	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												p.G34E	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	.	CTNNB1-24361	276	Substitution - Missense(145)|Deletion - In frame(105)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(146)|endometrium(30)|large_intestine(27)|stomach(21)|central_nervous_system(20)|skin(8)|pancreas(8)|ovary(6)|small_intestine(2)|lung(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|pituitary(1)|prostate(1)|bone(1)	c.G101A						.						93	78	83					3																	41266104		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ACTCTGGAATCCA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.101G>A	3.37:g.41266104G>A	ENSP00000344456:p.Gly34Glu	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	110	97	NM_001098209	0	0	3	63	60	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678424	0.88542	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	.	34	P35222	CTNB1_HUMAN	E	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27E;ENSP00000385604:G34E;ENSP00000412219:G34E;ENSP00000379486:G34E;ENSP00000344456:G34E;ENSP00000411226:G27E;ENSP00000379488:G34E;ENSP00000409302:G34E;ENSP00000401599:G34E	ENSP00000344456:G34E	G	+	2	0	CTNNB1	41241108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA	G|1.000;T|0.000		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		A	41266104	G	A	41266104	3	1	52	1	0	0	0	0	1	0	0	0	4025	1174	41	3	107	3	CTNNB1	3	41266104	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2647861	41266104	156756326	97	10748											
ZNF445	353274	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	44488379	44488379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaggaagaccgtgcaggCgggctacgttcagcctgtgc	16	10	1	2	rs548627054		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:44488379C>T	ENST00000396077.2	-	8	3131	c.2784G>A	c.(2782-2784)ccG>ccA	p.P928P	ZNF445_ENST00000425708.2_Silent_p.P928P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	928					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCGTGCAGGCGGGCTACGTT	0.502																																					p.P928P		.											.	ZNF445-91	0			c.G2784A						.						83	81	81					3																	44488379		2203	4300	6503	SO:0001819	synonymous_variant	353274	exon8			TGCAGGCGGGCTA	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2784G>A	3.37:g.44488379C>T		Somatic	113	1		WXS	Illumina GAIIx	Phase_I	101	84	NM_181489	0	0	0	1	1	Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																			.		0.502	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		T	44488379	C	T	44488379	2	4	52	1	0	0	0	0	0	0	0	1	17966	755	27	1		1	ZNF445	3	44488379	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3222275	44488379	153534051	98	10749											
ALS2CL	259173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	46718502	46718502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacggggaaggcacccaCgcccagctgcctgcgatggg	14	15	0	0	rs200208936		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:46718502C>T	ENST00000318962.4	-	17	1851	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V590M|ALS2CL_ENST00000383742.3_De_novo_Start_InFrame	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	590					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAGGCACCCACGCCCAGCTGC	0.677													C|||	1	0.000199681	0	0	5008	,	,		14431	0.001		0	False		,,,				2504	0				p.V590M		.											.	ALS2CL-155	0			c.G1768A						.						39	49	45					3																	46718502		2203	4299	6502	SO:0001583	missense	259173	exon17			CACCCACGCCCAG	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1768G>A	3.37:g.46718502C>T	ENSP00000313670:p.Val590Met	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	46	35	NM_001190707	0	0	0	1	1	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	CCDS2743.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.585	-0.296479	0.05532	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.54866	0.55;0.55	4.65	-1.02	0.10135	.	1.059620	0.07450	N	0.898922	T	0.31827	0.0809	N	0.22421	0.69	0.09310	N	0.999998	P	0.44309	0.832	B	0.24974	0.057	T	0.18967	-1.0320	10	0.46703	T	0.11	.	13.0807	0.59112	0.0:0.6486:0.2349:0.1165	.	590	Q60I27	AL2CL_HUMAN	M	590	ENSP00000313670:V590M;ENSP00000413223:V590M	ENSP00000313670:V590M	V	-	1	0	ALS2CL	46693506	0.002000	0.14202	0.000000	0.03702	0.153000	0.21895	0.800000	0.27042	-0.068000	0.12953	-0.311000	0.09066	GTG	C|0.999;T|0.000		0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		T	46718502	C	T	46718502	3	4	52	1	0	0	0	0	1	0	0	0	551	536	19	1	1133	1	ALS2CL	3	46718502	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2230123	46718502	151303928	99	10750											
SCAP	22937	broad.mit.edu	37	chr3	47461048	47461048	+	Frame_Shift_Del	DEL	G	G	-													aaggcagggtccgggtggctGgggggcagcatgccactagg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:47461048delG	ENST00000265565.5	-	13	2122	c.1710delC	c.(1708-1710)cccfs	p.P570fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.P315fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.P178fs|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	570					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGGGTGGCTGGGGGGCAGCA	0.657																																					p.P570fs	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.1710delC						.						58	61	60					3																	47461048		2203	4300	6503	SO:0001589	frameshift_variant	22937	exon13			GTGGCTGGGGGGC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1710delC	3.37:g.47461048delG	ENSP00000265565:p.Pro570fs	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	139	7	NM_012235	0	0	0	0	0	Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	CCDS2755.2																																																																																			.		0.657	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		-	47461048	G	-	47461048	7	5	52	1	0	1	0	1	0	0	0	0	13922	1335	47	0	2173	0	SCAP	3	47461048	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	742546	47461048	150561382	100	10751											
NME6	10201	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	48336637	48336637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatctggggccacatggcGtgctcggaacactctggtgg	15	10	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:48336637G>A	ENST00000452211.1	-	6	559	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	NME6_ENST00000450160.1_Silent_p.H94H|NME6_ENST00000426689.2_Missense_Mutation_p.R108C|NME6_ENST00000435684.1_Silent_p.H94H|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000415644.1_Intron|NME6_ENST00000451657.1_Silent_p.H94H|NME6_ENST00000426723.1_Intron|NME6_ENST00000421967.1_Missense_Mutation_p.R116C|NME6_ENST00000447314.1_Missense_Mutation_p.R63C|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.R108C|NME6_ENST00000415053.1_Missense_Mutation_p.R108C			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	108					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCACATGGCGTGCTCGGAAC	0.587																																					p.R116C		.											.	NME6-115	0			c.C346T						.						89	79	82					3																	48336637		2203	4300	6503	SO:0001583	missense	10201	exon5			CATGGCGTGCTCG	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.322C>T	3.37:g.48336637G>A	ENSP00000392352:p.Arg108Cys	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	158	12	NM_005793	0	0	8	9	1	B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	ENST00000452211.1	37		.	.	.	.	.	.	.	.	.	.	G	17.75	3.465226	0.63513	.	.	ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495	T;T;T;T;T;T;T;T	0.66995	0.34;0.35;0.35;0.35;0.35;-0.24;0.36;1.08	4.91	3.13	0.36017	.	0.051363	0.85682	D	0.000000	T	0.80132	0.4567	M	0.84433	2.695	0.20489	N	0.999892	D;P	0.71674	0.998;0.956	D;P	0.68039	0.955;0.598	T	0.71069	-0.4699	10	0.87932	D	0	0.0011	9.5468	0.39286	0.1705:0.0:0.8295:0.0	.	108;108	O75414;C9J9V6	NDK6_HUMAN;.	C	116;108;108;108;108;63;108;108	ENSP00000416658:R116C;ENSP00000440286:R108C;ENSP00000392352:R108C;ENSP00000399582:R108C;ENSP00000406642:R108C;ENSP00000414842:R63C;ENSP00000411116:R108C;ENSP00000392715:R108C	ENSP00000399582:R108C	R	-	1	0	NME6	48311641	1.000000	0.71417	0.773000	0.31616	0.933000	0.57130	4.633000	0.61318	0.799000	0.34018	0.655000	0.94253	CGC	.		0.587	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793		A	48336637	G	A	48336637	3	1	52	1	0	0	0	0	1	0	0	0	10534	1145	40	1	246	1	NME6	3	48336637	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	875589	48336637	149685793	101	10752											
CELSR3	1951	broad.mit.edu;bcgsc.ca	37	chr3	48693263	48693263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgtagaagagcagcccGctctgctgcactgtcgcgaa	12	13	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:48693263G>A	ENST00000164024.4	-	4	4927	c.4647C>T	c.(4645-4647)agC>agT	p.S1549S	CELSR3_ENST00000544264.1_Silent_p.S1549S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1549	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGCAGCCCGCTCTGCTGCA	0.657																																					p.S1549S		.											.	CELSR3-523	0			c.C4647T						.						32	33	33					3																	48693263		2203	4300	6503	SO:0001819	synonymous_variant	1951	exon4			CAGCCCGCTCTGC	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4647C>T	3.37:g.48693263G>A		Somatic	187	1		WXS	Illumina GAIIx	Phase_I	121	17	NM_001407	0	0	0	0	0	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																			.		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48693263	G	A	48693263	2	1	52	1	0	0	0	0	0	0	0	1	3230	1078	38	1		1	CELSR3	3	48693263	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	356626	48693263	149329167	102	10753											
GMPPB	29925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49760038	49760038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctacacacctggatgcgCtgcagcactgcagggctcag	11	15	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:49760038C>A	ENST00000480687.1	-	6	668	c.552G>T	c.(550-552)caG>caT	p.Q184H	GMPPB_ENST00000308388.6_Missense_Mutation_p.Q184H|GMPPB_ENST00000308375.6_Missense_Mutation_p.Q184H|AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	184			Q -> R (in dbSNP:rs1466685). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTGGATGCGCTGCAGCACTG	0.602																																					p.Q184H		.											.	GMPPB-90	0			c.G552T						.						97	88	91					3																	49760038		2203	4300	6503	SO:0001583	missense	29925	exon5			GATGCGCTGCAGC	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.552G>T	3.37:g.49760038C>A	ENSP00000418565:p.Gln184His	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	150	42	NM_021971	0	0	0	0	0	A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514432	0.27123	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.94092	-3.35;-3.35;-3.35	4.8	2.54	0.30619	Nucleotidyl transferase (1);	0.836752	0.11140	N	0.595385	D	0.86033	0.5836	N	0.20483	0.58	0.19775	N	0.999951	B;P	0.38711	0.285;0.643	B;B	0.38264	0.269;0.11	T	0.78059	-0.2352	10	0.72032	D	0.01	-3.2529	3.9786	0.09486	0.171:0.5519:0.0:0.2771	.	184;184	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	H	184	ENSP00000418565:Q184H;ENSP00000309092:Q184H;ENSP00000311130:Q184H	ENSP00000309092:Q184H	Q	-	3	2	GMPPB	49735042	0.009000	0.17119	0.965000	0.40720	0.922000	0.55478	0.078000	0.14761	0.388000	0.25054	0.462000	0.41574	CAG	.		0.602	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		A	49760038	C	A	49760038	3	1	52	1	0	0	0	0	1	0	0	0	6521	796	28	3	627	3	GMPPB	3	49760038	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1066775	49760038	148262392	103	10754											
RBM6	10180	broad.mit.edu	37	chr3	50097175	50097175	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacctggccactggaaaaCgaaggtaaggcagaagggtg	14	7	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:50097175C>T	ENST00000266022.4	+	11	2483	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	RBM6_ENST00000422955.1_Nonsense_Mutation_p.R220*|RBM6_ENST00000539992.1_Nonsense_Mutation_p.R84*|RBM6_ENST00000442092.1_Nonsense_Mutation_p.R220*|RBM6_ENST00000443081.1_Nonsense_Mutation_p.R610*|RBM6_ENST00000441115.1_3'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	742					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CACTGGAAAACGAAGGTAAGG	0.463																																					p.R742X		.											.	RBM6-280	0			c.C2224T						.						113	107	109					3																	50097175		2203	4300	6503	SO:0001587	stop_gained	10180	exon11			GGAAAACGAAGGT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2224C>T	3.37:g.50097175C>T	ENSP00000266022:p.Arg742*	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	123	4	NM_005777	0	0	3	3	0	O60549|O75524|Q86SS3	Nonsense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	42	9.260230	0.99117	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	.	.	.	5.56	3.77	0.43336	.	0.856437	0.10367	N	0.683248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6325	8.1211	0.30971	0.4197:0.5048:0.0:0.0755	.	.	.	.	X	220;742;610;84;220	.	.	R	+	1	2	RBM6	50072179	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.983000	0.49345	0.721000	0.32231	-0.145000	0.13849	CGA	.		0.463	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50097175	C	T	50097175	4	4	52	1	0	0	0	0	0	1	0	0	13189	528	19	1	2262	1	RBM6	3	50097175	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	337137	50097175	147925255	104	10755											
SEMA3B	7869	broad.mit.edu	37	chr3	50310793	50310795	+	RNA	DEL	CTT	CTT	-													ccagacgacgacaaaatctaCttcttctttcgtgagacggc					rs373347159		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:50310793_50310795delCTT	ENST00000418948.1	+	0	963_965							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACAAAATCTACTTCTTCTTTCGT	0.626											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		.											.	SEMA3B-840	0			.						.																																					7869	.			AATCTACTTCTTC	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50310799_50310801delCTT		Somatic	529	0	968	WXS	Illumina GAIIx	Phase_I	377	8	.	0	0	0	0	0	Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	DEL	ENST00000418948.1	37																																																																																				.		0.626	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		-	50310795	CTT	-	50310793	6	5	52	0	1	1	0	1	0	0	0	0	14070	576	20	0		0	SEMA3B	3	50310793	RNA	DEL	CTT	TCGA-OR-A5LJ-01A-11D-A29I-10	213618	50310793	147711637	105	10756											
TLR9	54106	broad.mit.edu	37	chr3	52257538	52257538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacgagggcactccatgCaggggttgggagcgtggtcg	19	8	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52257538C>T	ENST00000360658.2	-	2	1427	c.794G>A	c.(793-795)tGc>tAc	p.C265Y	TLR9_ENST00000494383.1_Silent_p.L418L|TLR9_ENST00000597542.1_Missense_Mutation_p.C289Y	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	265					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)	GCACTCCATGCAGGGGTTGGG	0.617																																					p.C265Y		.											.	TLR9-587	0			c.G794A						.						44	38	40					3																	52257538		2203	4300	6503	SO:0001583	missense	54106	exon2			TCCATGCAGGGGT	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.794G>A	3.37:g.52257538C>T	ENSP00000353874:p.Cys265Tyr	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	158	5	NM_017442	0	0	3	3	0	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569214	0.86439	.	.	ENSG00000239732	ENST00000360658	T	0.28895	1.59	5.38	5.38	0.77491	.	0.000000	0.39687	N	0.001290	T	0.61198	0.2328	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67405	-0.5679	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	362;265	B4E0A1;Q9NR96	.;TLR9_HUMAN	Y	265	ENSP00000353874:C265Y	ENSP00000353874:C265Y	C	-	2	0	TLR9	52232578	1.000000	0.71417	0.949000	0.38748	0.857000	0.48899	4.615000	0.61190	2.521000	0.84997	0.655000	0.94253	TGC	.		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52257538	C	T	52257538	3	4	52	1	0	0	0	0	1	0	0	0	16005	710	25	3	2308	3	TLR9	3	52257538	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1946745	52257538	145764892	106	10757											
STAB1	23166	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52550142	52550142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtgctcaggccatggGcagtgccaggacaggttcct	17	10	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52550142G>A	ENST00000321725.6	+	38	4108	c.4032G>A	c.(4030-4032)ggG>ggA	p.G1344G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1344	Laminin EGF-like 1. {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)		CAGGCCATGGGCAGTGCCAGG	0.677																																					p.G1344G		.											.	STAB1-139	0			c.G4032A						.						32	31	31					3																	52550142		2201	4300	6501	SO:0001819	synonymous_variant	23166	exon38			CCATGGGCAGTGC	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.4032G>A	3.37:g.52550142G>A		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	122	13	NM_015136	0	0	2	2	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																			.		0.677	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52550142	G	A	52550142	2	1	52	1	0	0	0	0	0	0	0	1	15284	1190	42	3		3	STAB1	3	52550142	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	292604	52550142	145472288	107	10758											
STAB1	23166	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52554026	52554026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcacaatgctgtggcccacaGacgccgcctttcgagctctg	10	15	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52554026G>C	ENST00000321725.6	+	51	5378	c.5302G>C	c.(5302-5304)Gac>Cac	p.D1768H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1768	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, 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)		GTGGCCCACAGACGCCGCCTT	0.637																																					p.D1768H		.											.	STAB1-139	0			c.G5302C						.						49	50	50					3																	52554026		2203	4299	6502	SO:0001583	missense	23166	exon51			CCCACAGACGCCG	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.5302G>C	3.37:g.52554026G>C	ENSP00000312946:p.Asp1768His	Somatic	237	2		WXS	Illumina GAIIx	Phase_I	250	109	NM_015136	0	0	4	5	1	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511540	0.85389	.	.	ENSG00000010327	ENST00000321725	D	0.92965	-3.14	5.67	5.67	0.87782	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97380	0.9982	10	0.87932	D	0	.	17.9427	0.89030	0.0:0.0:1.0:0.0	.	1768	Q9NY15	STAB1_HUMAN	H	1768	ENSP00000312946:D1768H	ENSP00000312946:D1768H	D	+	1	0	STAB1	52529066	1.000000	0.71417	0.990000	0.47175	0.597000	0.36814	6.774000	0.75012	2.680000	0.91292	0.563000	0.77884	GAC	.		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		C	52554026	G	C	52554026	3	2	52	1	0	0	0	0	1	0	0	0	15284	942	33	3	5504	3	STAB1	3	52554026	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3884	52554026	145468404	108	10759											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52584594	52584594	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgacagggggtccagcTggatgtgggccgggatatgg	19	6	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52584594T>A	ENST00000296302.7	-	29	4741	c.4740A>T	c.(4738-4740)ccA>ccT	p.P1580P	RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000356770.4_Silent_p.P1493P|PBRM1_ENST00000394830.3_Silent_p.P1473P|PBRM1_ENST00000409767.1_Silent_p.P1488P|PBRM1_ENST00000409057.1_Silent_p.P1525P|PBRM1_ENST00000410007.1_Silent_p.P1500P|PBRM1_ENST00000409114.3_Silent_p.P1543P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Silent_p.P1473P			Q86U86	PB1_HUMAN	polybromo 1	1580	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGGTCCAGCTGGATGTGGGC	0.567			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.P1473P		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1-575	0			c.A4419T						.						84	87	86					3																	52584594		2203	4300	6503	SO:0001819	synonymous_variant	55193	exon29			TCCAGCTGGATGT	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.4740A>T	3.37:g.52584594T>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	71	39	NM_018313	0	0	10	18	8	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																				.		0.567	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52584594	T	A	52584594	2	1	52	1	0	0	0	0	0	0	0	1	11530	1567	55	5		5	PBRM1	3	52584594	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	30568	52584594	145437836	109	10760											
ITIH1	3697	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52821065	52821065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctccatgagcatcagggGcatggcggaccaggacggcc	15	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52821065G>T	ENST00000273283.2	+	14	1862	c.1838G>T	c.(1837-1839)gGc>gTc	p.G613V	ITIH1_ENST00000537050.1_Missense_Mutation_p.G325V|ITIH1_ENST00000542827.1_Missense_Mutation_p.G613V|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000540715.1_Missense_Mutation_p.G471V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	613	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCATCAGGGGCATGGCGGAC	0.607																																					p.G613V		.											.	ITIH1-93	0			c.G1838T						.						91	88	89					3																	52821065		2203	4300	6503	SO:0001583	missense	3697	exon14			TCAGGGGCATGGC		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.1838G>T	3.37:g.52821065G>T	ENSP00000273283:p.Gly613Val	Somatic	276	1		WXS	Illumina GAIIx	Phase_I	297	45	NM_002215	0	0	0	0	0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108034	0.56291	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.03124	4.42;4.91;4.77;4.6;4.04	5.35	4.4	0.53042	.	0.102132	0.64402	D	0.000002	T	0.10895	0.0266	M	0.72118	2.19	0.32339	N	0.560035	P;D;D	0.63046	0.913;0.974;0.992	B;P;P	0.59357	0.299;0.601;0.856	T	0.01532	-1.1331	10	0.66056	D	0.02	-35.0583	5.7244	0.18004	0.1824:0.0:0.8176:0.0	.	471;214;613	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	V	613;613;471;325;166	ENSP00000442584:G613V;ENSP00000273283:G613V;ENSP00000443973:G471V;ENSP00000443847:G325V;ENSP00000395836:G166V	ENSP00000273283:G613V	G	+	2	0	ITIH1	52796105	1.000000	0.71417	0.980000	0.43619	0.488000	0.33401	2.833000	0.48159	2.790000	0.95986	0.591000	0.81541	GGC	.		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52821065	G	T	52821065	3	4	52	1	0	0	0	0	1	0	0	0	7930	1203	42	3	1892	3	ITIH1	3	52821065	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	236471	52821065	145201365	110	10761											
ITIH4	3700	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52847474	52847474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaaatctccactcccGggggcccctcctggtaatcc	10	16	1	0	rs140372968		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:52847474G>A	ENST00000266041.4	-	24	2852	c.2756C>T	c.(2755-2757)cCg>cTg	p.P919L	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.P924L|ITIH4_ENST00000346281.5_Missense_Mutation_p.P903L|ITIH4_ENST00000406595.1_Missense_Mutation_p.P889L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	919					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACTCCCGGGGGCCCCTC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		17127	0		0	False		,,,				2504	0				p.P919L		.											.	ITIH4-46	0			c.C2756T						.	G	LEU/PRO,LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	65	74	71		2666,2756	3.2	0.1	3	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	98,98	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging	889/901,919/931	52847474	5,13001	2203	4300	6503	SO:0001583	missense	3700	exon24			ACTCCCGGGGGCC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2756C>T	3.37:g.52847474G>A	ENSP00000266041:p.Pro919Leu	Somatic	179	1		WXS	Illumina GAIIx	Phase_I	197	92	NM_002218	0	0	5	12	7	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.865	-0.733859	0.03111	0.001135	0.0	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.07	3.18	0.36537	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.549745	0.16687	N	0.203717	T	0.10551	0.0258	M	0.66939	2.045	0.20926	N	0.99983	B;P;P;B	0.35307	0.173;0.494;0.494;0.011	B;B;B;B	0.32090	0.077;0.115;0.14;0.008	T	0.18935	-1.0321	10	0.10636	T	0.68	-20.0389	9.1444	0.36923	0.0:0.0:0.7825:0.2175	.	889;924;919;903	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	L	919;903;924;889;877	ENSP00000266041:P919L;ENSP00000340520:P903L;ENSP00000417824:P924L;ENSP00000384425:P889L	ENSP00000266041:P919L	P	-	2	0	ITIH4	52822514	0.033000	0.19621	0.065000	0.19835	0.007000	0.05969	1.588000	0.36633	1.272000	0.44329	0.561000	0.74099	CCG	G|1.000;A|0.000		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		A	52847474	G	A	52847474	3	1	52	1	0	0	0	0	1	0	0	0	7933	1116	39	1	40	1	ITIH4	3	52847474	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	26409	52847474	145174956	111	10762											
ACTR8	93973	broad.mit.edu;bcgsc.ca	37	chr3	53911367	53911367	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatttaactgacctcttctGataggccagtgaatattgta	7	7	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:53911367G>A	ENST00000335754.3	-	5	658	c.558C>T	c.(556-558)atC>atT	p.I186I	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Silent_p.I75I	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	186					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GACCTCTTCTGATAGGCCAGT	0.413																																					p.I186I		.											.	ACTR8-91	0			c.C558T						.						57	61	60					3																	53911367		2203	4300	6503	SO:0001819	synonymous_variant	93973	exon5			TCTTCTGATAGGC		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.558C>T	3.37:g.53911367G>A		Somatic	177	0		WXS	Illumina GAIIx	Phase_I	254	12	NM_022899	0	0	6	6	0	B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1																																																																																			.		0.413	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		A	53911367	G	A	53911367	2	1	52	1	0	0	0	0	0	0	0	1	217	1280	45	3		3	ACTR8	3	53911367	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1063893	53911367	144111063	112	10763											
DNASE1L3	1776	ucsc.edu;bcgsc.ca	37	chr3	58196552	58196552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttccccaaaggacctgaCgttgaaggagcagatcctca	10	12	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:58196552C>T	ENST00000394549.2	-	1	398	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V28I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V28I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V28I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	28					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)		AAGGACCTGACGTTGAAGGAG	0.587																																					p.V28I	Esophageal Squamous(96;1069 1424 4841 43466 52325)	.											.	DNASE1L3-153	0			c.G82A						.						208	185	192					3																	58196552		2203	4300	6503	SO:0001583	missense	1776	exon1			ACCTGACGTTGAA	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.82G>A	3.37:g.58196552C>T	ENSP00000378053:p.Val28Ile	Somatic	275	2		WXS	Illumina GAIIx	Phase_I	258	110	NM_004944	0	0	2	2	0	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	8.615	0.890044	0.17540	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.49	2.76	0.32466	Endonuclease/exonuclease/phosphatase (2);	0.244593	0.29192	N	0.012861	T	0.24236	0.0587	N	0.11106	0.095	0.30710	N	0.749388	B;B;B	0.33841	0.428;0.327;0.428	B;B;B	0.30179	0.112;0.072;0.068	T	0.37197	-0.9716	10	0.02654	T	1	.	9.0085	0.36127	0.0:0.7701:0.0:0.2299	.	28;28;28	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	28	ENSP00000419052:V28I;ENSP00000316193:V28I;ENSP00000417047:V28I;ENSP00000378053:V28I;ENSP00000418113:V28I;ENSP00000418509:V28I	ENSP00000316193:V28I	V	-	1	0	DNASE1L3	58171592	0.601000	0.26907	0.061000	0.19648	0.778000	0.44026	1.046000	0.30354	0.439000	0.26476	0.655000	0.94253	GTC	.		0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		T	58196552	C	T	58196552	3	4	52	1	0	0	0	0	1	0	0	0	4677	536	19	1	867	1	DNASE1L3	3	58196552	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4285185	58196552	139825878	113	10764											
FEZF2	55079	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	62355881	62355881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctttgccgcaagtggcGcacgtgaaaggcttcttgtc	11	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.C419C|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000486811.1_Silent_p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522																																					p.C419C	NSCLC(170;1772 2053 12525 15604 23984)	.											.	FEZF2-278	2	Substitution - coding silent(2)	large_intestine(2)	c.C1257T						.						256	233	240					3																	62355881		2203	4300	6503	SO:0001819	synonymous_variant	55079	exon5			AGTGGCGCACGTG	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1257C>T	3.37:g.62355881G>A		Somatic	367	0		WXS	Illumina GAIIx	Phase_I	407	21	NM_018008	0	0	0	0	0	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																			.		0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		A	62355881	G	A	62355881	2	1	52	1	0	0	0	0	0	0	0	1	5848	1079	38	1		1	FEZF2	3	62355881	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4159329	62355881	135666549	114	10765											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	52	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4194875	66550756	131471674	115	10766	106	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	52	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	6	66550762	131471668	116	10767	106	2									
FOXP1	27086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	71027087	71027087	+	Frame_Shift_Del	DEL	G	G	-													gccttgggtgacgggagtcaGgggggcggttggggtcgttg					rs534691598		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:71027087delG	ENST00000318789.4	-	15	1765	c.1240delC	c.(1240-1242)ctgfs	p.L414fs	FOXP1_ENST00000498215.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.L338fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.L414fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.L416fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.L414fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	414					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACGGGAGTCAGGGGGGCGGTT	0.572			T	PAX5	ALL																																p.L416X		.		Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	FOXP1-415	0			c.1246delC						.						125	129	128					3																	71027087		2203	4300	6503	SO:0001589	frameshift_variant	27086	exon10			GAGTCAGGGGGGC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1240delC	3.37:g.71027087delG	ENSP00000318902:p.Leu414fs	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	135	18	NM_001244815	0	0	0	0	0	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	DEL	ENST00000318789.4	37	CCDS2914.1																																																																																			.		0.572	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		-	71027087	G	-	71027087	7	5	52	1	0	1	0	1	0	0	0	0	6050	991	35	0	821	0	FOXP1	3	71027087	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4476325	71027087	126995343	117	10768											
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	77623681	77623681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccagtttatccaaggctAccgagtgatgtatcgtcaga	9	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:77623681A>G	ENST00000461745.1	+	14	2903	c.2003A>G	c.(2002-2004)tAc>tGc	p.Y668C	ROBO2_ENST00000332191.8_Missense_Mutation_p.Y668C|ROBO2_ENST00000487694.3_Missense_Mutation_p.Y684C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	668	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCCAAGGCTACCGAGTGATG	0.433																																					p.Y668C		.											.	ROBO2-328	0			c.A2003G						.						107	95	99					3																	77623681		1924	4116	6040	SO:0001583	missense	6092	exon14			AAGGCTACCGAGT	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2003A>G	3.37:g.77623681A>G	ENSP00000417164:p.Tyr668Cys	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	244	14	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868859	0.72065	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.78481	-1.18;-1.18;-1.18	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000810	D	0.88901	0.6563	M	0.82323	2.585	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90500	0.4473	9	0.87932	D	0	.	15.9642	0.79952	1.0:0.0:0.0:0.0	.	684;668;668	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	684;684;688;668;668;389	ENSP00000417335:Y684C;ENSP00000417164:Y668C;ENSP00000327536:Y668C	ENSP00000327536:Y668C	Y	+	2	0	ROBO2	77706371	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.335000	0.96500	2.167000	0.68274	0.482000	0.46254	TAC	.		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		G	77623681	A	G	77623681	3	3	52	1	0	0	0	0	1	0	0	0	13559	391	14	4	2059	4	ROBO2	3	77623681	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	6596594	77623681	120398749	118	10769											
GABRR3	200959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	97744481	97744481	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatatttctgaggccgCgctttggtactgtcatcttt	9	10	4	1	rs370488601	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:97744481C>T	ENST00000472788.1	-	0	169					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCTGAGGCCGCGCTTTGGTAC	0.388													C|||	3	0.000599042	8e-04	0	5008	,	,		17079	0.001		0.001	False		,,,				2504	0				.		.											.	GABRR3-68	0			.						.	C		1,3675		0,1,1837	167	156	160		168	-4.8	0	3		160	0,8180		0,0,4090	no	coding-synonymous	GABRR3	NM_001105580.2		0,1,5927	TT,TC,CC		0.0,0.0272,0.0084		56/468	97744481	1,11855	1838	4090	5928			200959	.			AGGCCGCGCTTTG	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744481C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	151	65	.	0	0	0	0	0	Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																				.		0.388	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			T	97744481	C	T	97744481	1	4	52	0	1	0	0	0	0	0	0	0	6202	755	27	1		1	GABRR3	3	97744481	RNA	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	20120800	97744481	100277949	119	10770											
TFG	10342	bcgsc.ca	37	chr3	100451359	100451359	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatttttacagatactgtGgatggtagggaagaaaagtc	11	4	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:100451359G>T	ENST00000240851.4	+	5	763	c.423G>T	c.(421-423)gtG>gtT	p.V141V	TFG_ENST00000476228.1_Silent_p.V141V|TFG_ENST00000490574.1_Silent_p.V141V|TFG_ENST00000418917.2_Silent_p.V141V	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	141					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						CAGATACTGTGGATGGTAGGG	0.348			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																p.V141V		.		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	.	TFG-861	0			c.G423T						.						91	91	91					3																	100451359		2203	4300	6503	SO:0001819	synonymous_variant	10342	exon5			TACTGTGGATGGT	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.423G>T	3.37:g.100451359G>T		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	148	6	NM_006070	0	0	0	0	0	D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	CCDS2939.1																																																																																			.		0.348	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		T	100451359	G	T	100451359	2	4	52	1	0	0	0	0	0	0	0	1	15853	1335	47	3		3	TFG	3	100451359	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2706878	100451359	97571071	120	10771											
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	108219012	108219012	+	Frame_Shift_Del	DEL	G	G	-													tggcaacagcaaagatgtgaGggggagcctctgatcgcctc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:108219012delG	ENST00000273353.3	-	5	565	c.509delC	c.(508-510)cctfs	p.P170fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	170	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						AAAGATGTGAGGGGGAGCCTC	0.453																																					p.P170fs		.											.	MYH15-73	0			c.509delC						.						92	94	93					3																	108219012		1897	4118	6015	SO:0001589	frameshift_variant	22989	exon5			ATGTGAGGGGGAG	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.509delC	3.37:g.108219012delG	ENSP00000273353:p.Pro170fs	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	150	16	NM_014981	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000273353.3	37	CCDS43127.1																																																																																			.		0.453	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		-	108219012	G	-	108219012	7	5	52	1	0	1	0	1	0	0	0	0	10072	1000	35	0	5483	0	MYH15	3	108219012	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7767653	108219012	89803418	121	10772											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766778	111766778	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgactccctgaccatttacgActcccttttgcccatccgga	6	16	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:111766778A>T	ENST00000452346.2	+	7	926	c.923A>T	c.(922-924)gAc>gTc	p.D308V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D182V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	308	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACCATTTACGACTCCCTTTTG	0.468																																					p.D182V		.											.	TMPRSS7-70	0			c.A545T						.						94	96	95					3																	111766778		2101	4225	6326	SO:0001583	missense	344805	exon5			TTTACGACTCCCT	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.923A>T	3.37:g.111766778A>T	ENSP00000398236:p.Asp308Val	Somatic	186	2		WXS	Illumina GAIIx	Phase_I	198	6	NM_001042575	0	0	0	0	0	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.970292	0.74246	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.27890	1.64;1.64;1.64	5.33	4.14	0.48551	CUB (5);	0.062843	0.64402	N	0.000009	T	0.55529	0.1926	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58808	-0.7571	10	0.87932	D	0	.	9.6109	0.39663	0.844:0.0:0.0:0.156	.	308;182	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	308;296;282;182;171	ENSP00000398236:D308V;ENSP00000411645:D182V;ENSP00000447563:D171V	ENSP00000411645:D182V	D	+	2	0	TMPRSS7	113249468	1.000000	0.71417	0.886000	0.34754	0.885000	0.51271	7.969000	0.87988	0.919000	0.36945	0.460000	0.39030	GAC	.		0.468	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		T	111766778	A	T	111766778	3	4	52	1	0	0	0	0	1	0	0	0	16299	275	10	5	559	5	TMPRSS7	3	111766778	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	3547766	111766778	86255652	122	10773											
DRD3	1814	broad.mit.edu	37	chr3	113890760	113890760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcatagtaggcatgtgggCgggcctggctggcacctgtg	19	9	0	0	rs201554805		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:113890760C>A	ENST00000460779.1	-	3	369	c.80G>T	c.(79-81)cGc>cTc	p.R27L	DRD3_ENST00000383673.2_Missense_Mutation_p.R27L|DRD3_ENST00000295881.7_Missense_Mutation_p.R27L|DRD3_ENST00000467632.1_Missense_Mutation_p.R27L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	27					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCATGTGGGCGGGCCTGGCT	0.632																																					p.R27L		.											.	DRD3-93	0			c.G80T						.						44	39	40					3																	113890760		2203	4300	6503	SO:0001583	missense	1814	exon2			TGTGGGCGGGCCT		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.80G>T	3.37:g.113890760C>A	ENSP00000419402:p.Arg27Leu	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	200	4	NM_000796	0	0	0	0	0	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423125	0.43020	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.0	2.04	0.26737	.	0.587132	0.18863	N	0.129078	T	0.17959	0.0431	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.28801	0.088;0.088;0.223;0.002	B;B;B;B	0.26517	0.07;0.07;0.052;0.008	T	0.14727	-1.0462	10	0.19590	T	0.45	.	4.9542	0.14031	0.0:0.4871:0.1557:0.3571	.	27;27;27;27	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	L	27	ENSP00000419402:R27L;ENSP00000420662:R27L;ENSP00000373169:R27L;ENSP00000295881:R27L	ENSP00000281274:R27L	R	-	2	0	DRD3	115373450	0.344000	0.24827	0.644000	0.29465	0.372000	0.29890	0.097000	0.15168	0.716000	0.32124	0.655000	0.94253	CGC	.		0.632	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		A	113890760	C	A	113890760	3	1	52	1	0	0	0	0	1	0	0	0	4772	768	27	2	1146	2	DRD3	3	113890760	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2123982	113890760	84131670	123	10774											
POPDC2	64091	broad.mit.edu	37	chr3	119379040	119379040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaagctccaaagaacAatgtccaggccacaggcact	10	12	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:119379040A>G	ENST00000264231.3	-	1	397	c.231T>C	c.(229-231)atT>atC	p.I77I	POPDC2_ENST00000538678.1_Silent_p.I77I|POPDC2_ENST00000468801.1_Silent_p.I77I|POPDC2_ENST00000493094.1_Silent_p.I77I|POPDC2_ENST00000474523.1_Intron	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	77					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		TCCAAAGAACAATGTCCAGGC	0.582																																					p.I77I		.											.	POPDC2-90	0			c.T231C						.						128	111	117					3																	119379040		2203	4300	6503	SO:0001819	synonymous_variant	64091	exon1			AAGAACAATGTCC	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.231T>C	3.37:g.119379040A>G		Somatic	238	0		WXS	Illumina GAIIx	Phase_I	280	7	NM_022135	0	0	0	0	0	Q86UE7	Silent	SNP	ENST00000264231.3	37	CCDS2992.1																																																																																			.		0.582	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		G	119379040	A	G	119379040	2	3	52	1	0	0	0	0	0	0	0	1	12294	126	5	4		4	POPDC2	3	119379040	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	5488280	119379040	78643390	124	10775											
KALRN	8997	broad.mit.edu	37	chr3	124175505	124175505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccagcaagcctttcggatCgggaggtcaagctgcgggac	14	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:124175505C>T	ENST00000240874.3	+	23	3935	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	KALRN_ENST00000460856.1_Missense_Mutation_p.R1251W|KALRN_ENST00000360013.3_Missense_Mutation_p.R1260W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1260					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTTTCGGATCGGGAGGTCAA	0.537																																					p.R1260W		.											.	KALRN-738	0			c.C3778T						.						94	95	95					3																	124175505		2203	4300	6503	SO:0001583	missense	8997	exon23			TCGGATCGGGAGG	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3778C>T	3.37:g.124175505C>T	ENSP00000240874:p.Arg1260Trp	Somatic	306	0		WXS	Illumina GAIIx	Phase_I	396	9	NM_003947	0	0	1	1	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248696	0.80024	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.61274	0.68;0.61;0.12	4.88	3.98	0.46160	.	0.244279	0.35903	N	0.002906	T	0.50274	0.1606	N	0.08118	0	0.80722	D	1	D;D;D;D	0.65815	0.991;0.966;0.979;0.995	P;P;B;P	0.54924	0.586;0.586;0.183;0.764	T	0.60556	-0.7240	10	0.66056	D	0.02	.	14.3611	0.66771	0.1491:0.8509:0.0:0.0	.	1251;606;1260;1260	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	W	1251;1260;1260	ENSP00000418611:R1251W;ENSP00000240874:R1260W;ENSP00000353109:R1260W	ENSP00000240874:R1260W	R	+	1	2	KALRN	125658195	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.029000	0.41098	1.211000	0.43351	0.585000	0.79938	CGG	.		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	124175505	C	T	124175505	3	4	52	1	0	0	0	0	1	0	0	0	8002	875	31	1	3868	1	KALRN	3	124175505	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4796465	124175505	73846925	125	10776											
CHST13	166012	hgsc.bcm.edu	37	chr3	126261180	126261180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtcgcctccgctacgAcgtcgtgggcaagttcgaga	13	14	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:126261180A>G	ENST00000319340.2	+	3	835	c.785A>G	c.(784-786)gAc>gGc	p.D262G		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	262					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTCCGCTACGACGTCGTGGGC	0.741																																					p.D262G		.											.	CHST13-90	0			c.A785G						.						8	8	8					3																	126261180		2113	4146	6259	SO:0001583	missense	166012	exon3			GCTACGACGTCGT	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.785A>G	3.37:g.126261180A>G	ENSP00000317404:p.Asp262Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_152889	0	0	0	0	0	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.01|16.01	3.002422|3.002422	0.54254|0.54254	.|.	.|.	ENSG00000180767|ENSG00000180767	ENST00000319340|ENST00000383575	T|.	0.76186|.	-1.0|.	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.82167|0.82167	0.4978|0.4978	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82908|0.82908	-0.0224|-0.0224	10|6	0.72032|0.23302	D|T	0.01|0.38	-22.0611|-22.0611	11.4947|11.4947	0.50402|0.50402	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	262|.	Q8NET6|.	CHSTD_HUMAN|.	G|A	262|202	ENSP00000317404:D262G|.	ENSP00000317404:D262G|ENSP00000373069:T202A	D|T	+|+	2|1	0|0	CHST13|CHST13	127743870|127743870	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.042000|0.042000	0.13812|0.13812	8.924000|8.924000	0.92827|0.92827	1.602000|1.602000	0.50124|0.50124	0.260000|0.260000	0.18958|0.18958	GAC|ACG	.		0.741	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		G	126261180	A	G	126261180	3	3	52	1	0	0	0	0	1	0	0	0	3408	275	10	4	795	4	CHST13	3	126261180	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	2085675	126261180	71761250	126	10777											
PLXNA1	5361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	126726724	126726724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaacgtggctgactgcGccttcctggagggccgtgtc	13	14	0	1	rs149327396		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:126726724G>A	ENST00000393409.2	+	8	2080	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A671T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	694					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGCTGACTGCGCCTTCCTGGA	0.607																																					p.A694T		.											.	PLXNA1-93	0			c.G2080A						.	G	THR/ALA	0,4406		0,0,2203	80	70	74		2080	1.6	1	3	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA1	NM_032242.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	694/1897	126726724	1,13005	2203	4300	6503	SO:0001583	missense	5361	exon8			GACTGCGCCTTCC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2080G>A	3.37:g.126726724G>A	ENSP00000377061:p.Ala694Thr	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	191	80	NM_032242	0	0	2	4	2		Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622062	0.46840	0.0	1.16E-4	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.16073	2.37;2.37	3.63	1.57	0.23409	.	0.213808	0.31847	N	0.006967	T	0.12008	0.0292	L	0.29908	0.895	0.39513	D	0.968384	B	0.31413	0.322	B	0.32677	0.15	T	0.15896	-1.0421	10	0.37606	T	0.19	.	10.0928	0.42458	0.0:0.0:0.3708:0.6292	.	694	Q9UIW2	PLXA1_HUMAN	T	694;671	ENSP00000377061:A694T;ENSP00000251772:A671T	ENSP00000251772:A671T	A	+	1	0	PLXNA1	128209414	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.584000	0.60971	0.837000	0.34925	0.467000	0.42956	GCC	G|1.000;A|0.000		0.607	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		A	126726724	G	A	126726724	3	1	52	1	0	0	0	0	1	0	0	0	12158	1087	38	1	2110	1	PLXNA1	3	126726724	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	465544	126726724	71295706	127	10778											
PLXNA1	5361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	126752807	126752807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaggcgcggcggcagCggctgcggagcaagctggag	20	10	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:126752807C>T	ENST00000393409.2	+	31	5638	c.5638C>T	c.(5638-5640)Cgg>Tgg	p.R1880W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1857W|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1880					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCGGCAGCGGCTGCGGAG	0.652																																					p.R1880W		.											.	PLXNA1-93	0			c.C5638T						.						24	25	25					3																	126752807		2198	4293	6491	SO:0001583	missense	5361	exon31			CGGCAGCGGCTGC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5638C>T	3.37:g.126752807C>T	ENSP00000377061:p.Arg1880Trp	Somatic	266	0		WXS	Illumina GAIIx	Phase_I	467	98	NM_032242	0	0	49	58	9		Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060493	0.76074	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10960	2.82;2.82	4.02	4.02	0.46733	.	0.000000	0.48767	D	0.000180	T	0.30947	0.0781	M	0.79123	2.44	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.61132	0.776;0.884	T	0.21724	-1.0237	10	0.87932	D	0	.	15.918	0.79539	0.0:1.0:0.0:0.0	.	494;1880	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	W	1880;1857	ENSP00000377061:R1880W;ENSP00000251772:R1857W	ENSP00000251772:R1857W	R	+	1	2	PLXNA1	128235497	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.625000	0.61262	2.084000	0.62774	0.313000	0.20887	CGG	.		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126752807	C	T	126752807	3	4	52	1	0	0	0	0	1	0	0	0	12158	759	27	1	5760	1	PLXNA1	3	126752807	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	26083	126752807	71269623	128	10779											
MRPL3	11222	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	131219274	131219274	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctgtttctctcttacCtgaagtaatgtgaccacatg	7	10	4	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:131219274C>T	ENST00000264995.3	-	3	516	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Splice_Site_p.Q150Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	123					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCTCTCTTACCTGAAGTAATG	0.403																																					p.Q123Q		.											.	MRPL3-90	0			c.G369A						.						146	113	124					3																	131219274		2203	4300	6503	SO:0001630	splice_region_variant	11222	exon3			TCTTACCTGAAGT	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.369+1G>A	3.37:g.131219274C>T		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	115	48	NM_007208	0	0	0	1	1	Q6IBT2	Silent	SNP	ENST00000264995.3	37	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221389	0.22457	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.74	0.60224	.	.	.	.	.	T	0.60143	0.2246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	4	.	.	.	-12.7546	9.2115	0.37322	0.0:0.8386:0.0:0.1614	.	.	.	.	S	138	.	.	G	-	1	0	MRPL3	132701964	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	2.622000	0.46427	2.654000	0.90174	0.555000	0.69702	GGT	.		0.403	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208	Silent	T	131219274	C	T	131219274	5	4	52	1	0	0	0	0	0	0	1	0	9831	695	24	3	709	3	MRPL3	3	131219274	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4466467	131219274	66803156	129	10780											
EPHB1	2047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	134911554	134911554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggcgagcatcatgggCcagttcgaccatcctaacat	11	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:134911554C>T	ENST00000398015.3	+	11	2389	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	EPHB1_ENST00000493838.1_Silent_p.G234G	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	673	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCATCATGGGCCAGTTCGACC	0.542																																					p.G673G		.											.	EPHB1-1492	0			c.C2019T						.						107	108	108					3																	134911554		2201	4299	6500	SO:0001819	synonymous_variant	2047	exon11			CATGGGCCAGTTC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2019C>T	3.37:g.134911554C>T		Somatic	337	1		WXS	Illumina GAIIx	Phase_I	404	171	NM_004441	0	0	0	0	0	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																			.		0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134911554	C	T	134911554	2	4	52	1	0	0	0	0	0	0	0	1	5190	726	26	3		3	EPHB1	3	134911554	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3692280	134911554	63110876	130	10781											
PRR23B	389151	hgsc.bcm.edu	37	chr3	138739402	138739402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggggttcggggcccgcGggctcctccaatcggaggcg	19	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:138739402G>A	ENST00000329447.5	-	1	366	c.102C>T	c.(100-102)ccC>ccT	p.P34P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	34										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGGGCCCGCGGGCTCCTCCA	0.761																																					p.P34P		.											.	PRR23B-135	0			c.C102T						.						3	4	3					3																	138739402		1426	3256	4682	SO:0001819	synonymous_variant	389151	exon1			GCCCGCGGGCTCC	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.102C>T	3.37:g.138739402G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_001013650	0	0	0	0	0	B2RNV9	Silent	SNP	ENST00000329447.5	37	CCDS33868.1																																																																																			.		0.761	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		A	138739402	G	A	138739402	2	1	52	1	0	0	0	0	0	0	0	1	12637	1103	39	1		1	PRR23B	3	138739402	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3827848	138739402	59283028	131	10782											
TRIM42	287015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	140407267	140407267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgctggagcagacagCcagtctgtacagaacagcag	14	9	1	2	rs539700485		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:140407267C>T	ENST00000286349.3	+	3	1934	c.1743C>T	c.(1741-1743)agC>agT	p.S581S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	581						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						GAGCAGACAGCCAGTCTGTAC	0.577																																					p.S581S		.											.	TRIM42-227	0			c.C1743T						.						89	89	89					3																	140407267		2203	4300	6503	SO:0001819	synonymous_variant	287015	exon3			AGACAGCCAGTCT	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.1743C>T	3.37:g.140407267C>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	215	76	NM_152616	0	0	0	0	0	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	CCDS3113.1																																																																																			.		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140407267	C	T	140407267	2	4	52	1	0	0	0	0	0	0	0	1	16565	738	26	3		3	TRIM42	3	140407267	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1667865	140407267	57615163	132	10783											
GPR87	53836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	151011993	151011993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataatatatgcgaacttcCgatcttctcacactttgcag	5	11	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:151011993C>T	ENST00000260843.4	-	3	1505	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	347					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)			TGCGAACTTCCGATCTTCTCA	0.338																																					p.S347S		.											.	GPR87-153	0			c.G1041A						.						155	157	156					3																	151011993		2203	4300	6503	SO:0001819	synonymous_variant	53836	exon3			AACTTCCGATCTT	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.1041G>A	3.37:g.151011993C>T		Somatic	276	1		WXS	Illumina GAIIx	Phase_I	381	182	NM_023915	0	0	0	0	0	Q5KU35|Q96JZ8|Q9BXC2	Silent	SNP	ENST00000260843.4	37	CCDS3157.1																																																																																			.		0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			T	151011993	C	T	151011993	2	4	52	1	0	0	0	0	0	0	0	1	6742	639	23	1		1	GPR87	3	151011993	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10604726	151011993	47010437	133	10784											
SGEF	26084	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	153970947	153970947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccctgggacacagcagCgggaagccgcctgcagaccg	14	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:153970947C>T	ENST00000356448.4	+	13	2627	c.2343C>T	c.(2341-2343)agC>agT	p.S781S	ARHGEF26_ENST00000465093.1_Silent_p.S781S|ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	781	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.			S -> R (in Ref. 1; AAL27001). {ECO:0000305}.	endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GACACAGCAGCGGGAAGCCGC	0.572											OREG0015887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S781S	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	.											.	ARHGEF26-47	0			c.C2343T						.						58	61	60					3																	153970947		1884	4112	5996	SO:0001819	synonymous_variant	26084	exon13			CAGCAGCGGGAAG	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2343C>T	3.37:g.153970947C>T		Somatic	349	1	1759	WXS	Illumina GAIIx	Phase_I	481	62	NM_001251962	0	0	0	0	0	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	37	CCDS46938.1																																																																																			.		0.572	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		T	153970947	C	T	153970947	2	4	52	1	0	0	0	0	0	0	0	1	14250	767	27	1		1	SGEF	3	153970947	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2958954	153970947	44051483	134	10785											
SI	6476	broad.mit.edu	37	chr3	164712168	164712168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatttcagcaaaagttTcattccaggaagcgggatct	9	8	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:164712168T>C	ENST00000264382.3	-	41	4780	c.4718A>G	c.(4717-4719)gAa>gGa	p.E1573G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1573	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCAAAAGTTTCATTCCAGGA	0.318										HNSCC(35;0.089)																											p.E1573G		.											.	SI-104	0			c.A4718G						.						104	109	107					3																	164712168		2203	4300	6503	SO:0001583	missense	6476	exon41			AAAGTTTCATTCC	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.4718A>G	3.37:g.164712168T>C	ENSP00000264382:p.Glu1573Gly	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	325	8	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.587435	0.28268	.	.	ENSG00000090402	ENST00000264382	D	0.93712	-3.27	5.2	-4.46	0.03536	Glycoside hydrolase, superfamily (1);	1.007290	0.07978	N	0.985039	D	0.93494	0.7924	M	0.70595	2.14	0.09310	N	1	B	0.27229	0.172	B	0.36766	0.232	T	0.81165	-0.1057	10	0.30854	T	0.27	.	20.8094	0.99722	0.0:0.0:0.7291:0.2709	.	1573	P14410	SUIS_HUMAN	G	1573	ENSP00000264382:E1573G	ENSP00000264382:E1573G	E	-	2	0	SI	166194862	0.000000	0.05858	0.012000	0.15200	0.953000	0.61014	-0.180000	0.09754	-0.766000	0.04639	0.524000	0.50904	GAA	.		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164712168	T	C	164712168	3	2	52	1	0	0	0	0	1	0	0	0	14342	1783	62	4	797	4	SI	3	164712168	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	10741221	164712168	33310262	135	10786											
LRRC34	151827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	169511575	169511575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctaccacaaatggctccaCatctgtattgtctggtttta	6	10	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:169511575C>T	ENST00000316515.7	-	10	1384	c.1108G>A	c.(1108-1110)Gtg>Atg	p.V370M	LRRC34_ENST00000524327.1_5'Flank|LRRC34_ENST00000522526.2_Missense_Mutation_p.V383M|LRRC34_ENST00000446859.1_Missense_Mutation_p.V415M|LRRC34_ENST00000522830.1_Missense_Mutation_p.V354M|RP11-362K14.7_ENST00000602913.1_RNA|RP11-362K14.6_ENST00000602835.1_RNA	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	370										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATGGCTCCACATCTGTATTG	0.328																																					p.V415M		.											.	LRRC34-90	0			c.G1243A						.						92	88	89					3																	169511575		2203	4300	6503	SO:0001583	missense	151827	exon11			GCTCCACATCTGT	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.1108G>A	3.37:g.169511575C>T	ENSP00000326150:p.Val370Met	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	195	21	NM_001172779	0	0	1	1	0	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	C	16.75	3.208714	0.58343	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.75808	-0.3187	10	0.49607	T	0.09	-20.3598	19.4819	0.95013	0.0:1.0:0.0:0.0	.	354;415;370	G3V115;G5E9T7;Q8IZ02	.;.;LRC34_HUMAN	M	415;370;354;383	ENSP00000414635:V415M;ENSP00000326150:V370M;ENSP00000429593:V354M;ENSP00000429278:V383M	ENSP00000326150:V370M	V	-	1	0	LRRC34	170994269	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	4.453000	0.60061	2.689000	0.91719	0.650000	0.86243	GTG	.		0.328	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		T	169511575	C	T	169511575	3	4	52	1	0	0	0	0	1	0	0	0	9024	478	17	3	155	3	LRRC34	3	169511575	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4799407	169511575	28510855	136	10787											
PRKCI	5584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	169985778	169985778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactttccaagccaagcGtttcaacagggtaaacatag	7	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:169985778G>A	ENST00000295797.4	+	5	745	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	147	Regulatory domain.				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)	CAAGCCAAGCGTTTCAACAGG	0.388																																					p.R147H		.											.	PRKCI-1378	0			c.G440A						.						63	58	60					3																	169985778		2203	4300	6503	SO:0001583	missense	5584	exon5			CCAAGCGTTTCAA		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.440G>A	3.37:g.169985778G>A	ENSP00000295797:p.Arg147His	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	93	33	NM_002740	0	0	0	0	0	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518129	0.85495	.	.	ENSG00000163558	ENST00000295797	D	0.93076	-3.16	4.99	4.99	0.66335	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.94496	0.8228	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93662	0.6982	9	.	.	.	.	18.2456	0.89984	0.0:0.0:1.0:0.0	.	147	P41743	KPCI_HUMAN	H	147	ENSP00000295797:R147H	.	R	+	2	0	PRKCI	171468472	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.728000	0.98792	2.486000	0.83907	0.467000	0.42956	CGT	.		0.388	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		A	169985778	G	A	169985778	3	1	52	1	0	0	0	0	1	0	0	0	12556	1145	40	1	458	1	PRKCI	3	169985778	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	474203	169985778	28036652	137	10788											
FNDC3B	64778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	172070715	172070715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccccttgatgcctacccTgattcaccttctgcgtgcct	8	16	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:172070715T>C	ENST00000336824.4	+	22	2736	c.2637T>C	c.(2635-2637)ccT>ccC	p.P879P	FNDC3B_ENST00000416957.1_Silent_p.P879P|FNDC3B_ENST00000415807.2_Silent_p.P879P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	879	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATGCCTACCCTGATTCACCTT	0.542																																					p.P879P		.											.	FNDC3B-155	0			c.T2637C						.						113	94	101					3																	172070715		2203	4300	6503	SO:0001819	synonymous_variant	64778	exon22			CTACCCTGATTCA	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2637T>C	3.37:g.172070715T>C		Somatic	133	2		WXS	Illumina GAIIx	Phase_I	177	69	NM_001135095	0	0	6	12	6	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																			.		0.542	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		C	172070715	T	C	172070715	2	2	52	1	0	0	0	0	0	0	0	1	5992	1567	55	4		4	FNDC3B	3	172070715	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	2084937	172070715	25951715	138	10789											
USP13	8975	bcgsc.ca	37	chr3	179437819	179437819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatatgcttcatatgcaTggggtgaggtctccttttgt	11	6	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:179437819T>C	ENST00000263966.3	+	7	1368	c.897T>C	c.(895-897)caT>caC	p.H299H	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.H234H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	299					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)			TTCATATGCATGGGGTGAGGT	0.413																																					p.H299H		.											.	USP13-659	0			c.T897C						.						199	175	183					3																	179437819		2203	4300	6503	SO:0001819	synonymous_variant	8975	exon7			TATGCATGGGGTG	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.897T>C	3.37:g.179437819T>C		Somatic	70	1		WXS	Illumina GAIIx	Phase_I	126	6	NM_003940	0	0	0	0	0	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																			.		0.413	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			C	179437819	T	C	179437819	2	2	52	1	0	0	0	0	0	0	0	1	17093	1461	51	4		4	USP13	3	179437819	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	7367104	179437819	18584611	139	10790											
ABCC5	10057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	183732094	183732094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcttcacggtctctgtgCgtcccagaagtgctggttct	11	11	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:183732094C>T	ENST00000334444.6	-	2	327	c.87G>A	c.(85-87)acG>acA	p.T29T	ABCC5_ENST00000446941.2_Silent_p.T29T|ABCC5_ENST00000392579.2_Silent_p.T29T|ABCC5-AS1_ENST00000422946.1_RNA|ABCC5_ENST00000427120.2_Silent_p.T29T|ABCC5_ENST00000382494.2_Silent_p.T29T|ABCC5_ENST00000265586.6_Silent_p.T29T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	29					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTCTCTGTGCGTCCCAGAAG	0.453																																					p.T29T		.											.	ABCC5-137	0			c.G87A						.						138	121	127					3																	183732094		2203	4300	6503	SO:0001819	synonymous_variant	10057	exon2			TCTGTGCGTCCCA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.87G>A	3.37:g.183732094C>T		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	130	14	NM_005688	0	0	14	16	2	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																			.		0.453	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		T	183732094	C	T	183732094	2	4	52	1	0	0	0	0	0	0	0	1	56	755	27	1		1	ABCC5	3	183732094	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4294275	183732094	14290336	140	10791											
ECE2	9718	broad.mit.edu	37	chr3	183994339	183994339	+	Intron	DEL	C	C	-													ccccgtagagggcggggcctCcccggacgccatggaggtgg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:183994339delC	ENST00000402825.3	+	3	480				ECE2_ENST00000404464.3_Frame_Shift_Del_p.S37fs|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Frame_Shift_Del_p.S37fs	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCGGGGCCTCCCCGGACGCC	0.677																																					p.S37fs		.											.	ECE2-94	0			c.110delC						.						16	20	19					3																	183994339		1924	4106	6030	SO:0001627	intron_variant	9718	exon2			GGGCCTCCCCGGA	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-341C>-	3.37:g.183994339delC		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	198	13	NM_001100121	0	0	0	0	0	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Frame_Shift_Del	DEL	ENST00000402825.3	37	CCDS3256.2																																																																																			.		0.677	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		-	183994339	C	-	183994339	6	5	52	0	1	1	0	1	0	0	0	0	4904	855	30	0		0	ECE2	3	183994339	Intron	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	262245	183994339	14028091	141	10792											
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	184042024	184042025	+	Frame_Shift_Del	DEL	TG	TG	-													acggaaaagccaacagtgacTgtgaacttccgaaagctgtt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:184042024_184042025delTG	ENST00000346169.2	+	17	2779_2780	c.2508_2509delTG	c.(2506-2511)actgtgfs	p.V837fs	EIF4G1_ENST00000342981.4_Frame_Shift_Del_p.V838fs|EIF4G1_ENST00000352767.3_Frame_Shift_Del_p.V844fs|EIF4G1_ENST00000427845.1_Frame_Shift_Del_p.V751fs|EIF4G1_ENST00000414031.1_Frame_Shift_Del_p.V797fs|EIF4G1_ENST00000441154.1_Frame_Shift_Del_p.V674fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Frame_Shift_Del_p.V642fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000411531.1_Frame_Shift_Del_p.V798fs|EIF4G1_ENST00000435046.2_Frame_Shift_Del_p.V641fs|EIF4G1_ENST00000350481.5_Frame_Shift_Del_p.V673fs|EIF4G1_ENST00000319274.6_Frame_Shift_Del_p.V837fs|EIF4G1_ENST00000392537.2_Frame_Shift_Del_p.V750fs|EIF4G1_ENST00000382330.3_Frame_Shift_Del_p.V844fs|EIF4G1_ENST00000424196.1_Frame_Shift_Del_p.V844fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	837	eIF3/EIF4A-binding.				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)			CAACAGTGACTGTGAACTTCCG	0.46																																					p.843_844del		.											.	EIF4G1-344	0			c.2529_2530del						.																																			SO:0001589	frameshift_variant	1981	exon18			AGTGACTGTGAAC	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.2508_2509delTG	3.37:g.184042026_184042027delTG	ENSP00000316879:p.Val837fs	Somatic	298	0		WXS	Illumina GAIIx	Phase_I	376	92	NM_001194946	0	0	0	0	0	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Del	DEL	ENST00000346169.2	37	CCDS3259.1																																																																																			.		0.46	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		-	184042025	TG	-	184042024	7	5	52	1	0	1	0	1	0	0	0	0	5052	1567	55	0	2566	0	EIF4G1	3	184042024	Frame_Shift_Del	DEL	TG	TCGA-OR-A5LJ-01A-11D-A29I-10	47685	184042024	13980406	142	10793											
EPHB3	2049	ucsc.edu;bcgsc.ca	37	chr3	184290407	184290407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggttcatctggcggcGggatgtgcagcgggtctacg	18	10	3	0	rs376603901		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:184290407G>A	ENST00000330394.2	+	3	751	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCTGGCGGCGGGATGTGCAG	0.582																																					p.R100Q		.											.	EPHB3-1455	0			c.G299A						.	G	GLN/ARG	0,4406		0,0,2203	68	63	64		299	0.7	0.9	3		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHB3	NM_004443.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	100/999	184290407	1,13005	2203	4300	6503	SO:0001583	missense	2049	exon3			GGCGGCGGGATGT	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.299G>A	3.37:g.184290407G>A	ENSP00000332118:p.Arg100Gln	Somatic	249	3		WXS	Illumina GAIIx	Phase_I	310	156	NM_004443	0	0	2	4	2	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529628	0.44969	0.0	1.16E-4	ENSG00000182580	ENST00000330394	T	0.03607	3.87	5.53	0.684	0.18003	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.124000	0.53938	D	0.000053	T	0.02767	0.0083	L	0.31065	0.9	0.36386	D	0.862229	B	0.17268	0.021	B	0.09377	0.004	T	0.48410	-0.9038	10	0.25751	T	0.34	.	8.3612	0.32359	0.5786:0.0:0.4214:0.0	.	100	P54753	EPHB3_HUMAN	Q	100	ENSP00000332118:R100Q	ENSP00000332118:R100Q	R	+	2	0	EPHB3	185773101	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	4.421000	0.59848	0.041000	0.15688	0.655000	0.94253	CGG	.		0.582	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		A	184290407	G	A	184290407	3	1	52	1	0	0	0	0	1	0	0	0	5192	1116	39	1	309	1	EPHB3	3	184290407	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	248383	184290407	13732023	143	10794											
EPHB3	2049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	184297350	184297350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgccaaggagatcgaCgtgtcctgcgtcaagatcga	13	9	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:184297350C>T	ENST00000330394.2	+	10	2339	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	629					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGATCGACGTGTCCTGCG	0.547																																					p.D629D		.											.	EPHB3-1455	0			c.C1887T						.						77	72	73					3																	184297350		2203	4300	6503	SO:0001819	synonymous_variant	2049	exon10			GATCGACGTGTCC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1887C>T	3.37:g.184297350C>T		Somatic	390	0		WXS	Illumina GAIIx	Phase_I	441	47	NM_004443	0	0	9	10	1	Q7Z740	Silent	SNP	ENST00000330394.2	37	CCDS3268.1																																																																																			.		0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		T	184297350	C	T	184297350	2	4	52	1	0	0	0	0	0	0	0	1	5192	535	19	1		1	EPHB3	3	184297350	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6943	184297350	13725080	144	10795											
LRRC15	131578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	194080702	194080702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgcggaagacgttcccGtccaggtcctgcagtgcgtt	12	12	0	1	rs369755501		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:194080702G>A	ENST00000347624.3	-	2	1156	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	LRRC15_ENST00000428839.1_Silent_p.D363D|LRRC15_ENST00000439944.2_Silent_p.D363D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	357					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)		AGACGTTCCCGTCCAGGTCCT	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		19579	0		0	False		,,,				2504	0				p.D363D		.											.	LRRC15-71	0			c.C1089T						.	G	,	0,4406		0,0,2203	63	61	62		1089,1071	-4.5	0	3		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	363/588,357/582	194080702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			GTTCCCGTCCAGG	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.1071C>T	3.37:g.194080702G>A		Somatic	231	0		WXS	Illumina GAIIx	Phase_I	227	108	NM_001135057	0	0	0	0	0	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			.		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194080702	G	A	194080702	2	1	52	1	0	0	0	0	0	0	0	1	9005	1136	40	1		1	LRRC15	3	194080702	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9783352	194080702	3941728	145	10796											
APOD	347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	195306326	195306326	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcagcagcagcagcaTcaccatcttggggctgggtg	15	10	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:195306326T>G	ENST00000343267.3	-	2	368	c.7A>C	c.(7-9)Atg>Ctg	p.M3L		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	3					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGCAGCAGCATCACCATCTTG	0.587																																					p.M3L		.											.	APOD-516	0			c.A7C						.						30	32	31					3																	195306326		2203	4300	6503	SO:0001583	missense	347	exon2			GCAGCATCACCAT		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.7A>C	3.37:g.195306326T>G	ENSP00000345179:p.Met3Leu	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	71	27	NM_001647	0	0	11	11	0	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	T	3.830	-0.035905	0.07497	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.61627	0.53;0.51;0.09	5.68	-0.94	0.10405	.	1.784950	0.01966	N	0.043722	T	0.45196	0.1330	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.07809	-1.0753	10	0.20046	T	0.44	-0.0188	3.9732	0.09462	0.1178:0.0889:0.5131:0.2803	.	3;3	B4DGC3;P05090	.;APOD_HUMAN	L	3;31;3	ENSP00000345179:M3L;ENSP00000415235:M31L;ENSP00000393076:M3L	ENSP00000345179:M3L	M	-	1	0	APOD	196787615	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.264000	0.08658	0.113000	0.18004	-0.327000	0.08410	ATG	.		0.587	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		G	195306326	T	G	195306326	3	3	52	1	0	0	0	0	1	0	0	0	801	1435	50	5	578	5	APOD	3	195306326	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1225624	195306326	2716104	146	10797											
LRCH3	84859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	197598289	197598289	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatttggccaatcatgtgCgacctcgatctgtcccaagc	9	14	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:197598289C>T	ENST00000425562.2	+	19	2086	c.2086C>T	c.(2086-2088)Cga>Tga	p.R696*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R644*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R696*|LRCH3_ENST00000536618.1_Nonsense_Mutation_p.R291*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R696*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R542*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	696	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					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)		CAATCATGTGCGACCTCGATC	0.448																																					p.R696X		.											.	LRCH3-91	0			c.C2086T						.						297	271	279					3																	197598289		2203	4300	6503	SO:0001587	stop_gained	84859	exon19			CATGTGCGACCTC	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.2086C>T	3.37:g.197598289C>T	ENSP00000393579:p.Arg696*	Somatic	249	1		WXS	Illumina GAIIx	Phase_I	334	161	NM_032773	0	0	7	9	2	B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.389102|5.389102	0.95988|0.95988	.|.	.|.	ENSG00000186001|ENSG00000186001	ENST00000428136|ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	.|.	.|.	.|.	5.79|5.79	1.84|1.84	0.25277|0.25277	.|.	.|0.163393	.|0.39020	.|N	.|0.001494	T|.	0.29256|.	0.0728|.	.|.	.|.	.|.	0.38928|0.38928	D|D	0.957872|0.957872	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21075|.	-1.0256|.	4|.	.|0.02654	.|T	.|1	-3.4688|-3.4688	9.6547|9.6547	0.39919|0.39919	0.3607:0.5762:0.0:0.0631|0.3607:0.5762:0.0:0.0631	.|.	.|.	.|.	.|.	V|X	73|696;542;644;696;696;291;171;133	.|.	.|ENSP00000334375:R696X	A|R	+|+	2|1	0|2	LRCH3|LRCH3	199082686|199082686	0.792000|0.792000	0.28813|0.28813	0.925000|0.925000	0.36789|0.36789	0.998000|0.998000	0.95712|0.95712	0.666000|0.666000	0.25097|0.25097	0.054000|0.054000	0.16065|0.16065	0.650000|0.650000	0.86243|0.86243	GCG|CGA	.		0.448	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		T	197598289	C	T	197598289	4	4	52	1	0	0	0	0	0	1	0	0	8969	760	27	1	2160	1	LRCH3	3	197598289	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2291963	197598289	424141	147	10798											
LMLN	89782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	197702954	197702954	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagacttttcaggtccgtCgacctgcgggcactatctta	10	11	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr3:197702954C>T	ENST00000330198.4	+	4	425	c.403C>T	c.(403-405)Cga>Tga	p.R135*	LMLN_ENST00000482695.1_Nonsense_Mutation_p.R83*|LMLN_ENST00000420910.2_Nonsense_Mutation_p.R135*|LMLN_ENST00000332636.5_Nonsense_Mutation_p.R83*	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	135					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)		TCAGGTCCGTCGACCTGCGGG	0.373																																					p.R135X		.											.	LMLN-91	0			c.C403T						.						56	55	55					3																	197702954		2203	4300	6503	SO:0001587	stop_gained	89782	exon4			GTCCGTCGACCTG	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.403C>T	3.37:g.197702954C>T	ENSP00000328829:p.Arg135*	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	153	69	NM_001136049	0	0	1	1	0	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Nonsense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151818	0.94645	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	.	.	.	5.61	0.0634	0.14348	.	0.180813	0.45606	D	0.000355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3273	12.882	0.58022	0.4097:0.5903:0.0:0.0	.	.	.	.	X	83;135;63;135;83	.	ENSP00000328829:R135X	R	+	1	2	LMLN	199187351	0.998000	0.40836	0.800000	0.32199	0.988000	0.76386	1.856000	0.39389	-0.090000	0.12462	-0.276000	0.10085	CGA	.		0.373	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		T	197702954	C	T	197702954	4	4	52	1	0	0	0	0	0	1	0	0	8877	876	31	1	417	1	LMLN	3	197702954	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	104665	197702954	319476	148	10799											
RGS12	6002	broad.mit.edu	37	chr4	3432439	3432439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggacgaccccccccGggcagaagtctcccagcggg	13	18	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:3432439G>A	ENST00000344733.5	+	17	4775	c.3871G>A	c.(3871-3873)Ggg>Agg	p.G1291R	RGS12_ENST00000336727.3_Missense_Mutation_p.G1291R|RGS12_ENST00000382788.3_Missense_Mutation_p.G1291R|RGS12_ENST00000338806.4_Missense_Mutation_p.G643R|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1291					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCCCCCGGGCAGAAGTC	0.706																																					p.G1291R		.											.	RGS12-226	0			c.G3871A						.						7	10	9					4																	3432439		2141	4210	6351	SO:0001583	missense	6002	exon17			CCCCCCGGGCAGA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3871G>A	4.37:g.3432439G>A	ENSP00000339381:p.Gly1291Arg	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	40	3	NM_002926	0	0	23	24	1	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030394	0.35797	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.36699	1.55;1.59;1.59;1.24	3.46	2.29	0.28610	.	0.560169	0.17071	N	0.188156	T	0.21631	0.0521	L	0.29908	0.895	0.19775	N	0.999956	B;B;D;P	0.56035	0.008;0.008;0.974;0.938	B;B;B;B	0.42916	0.003;0.003;0.398;0.402	T	0.06625	-1.0816	10	0.18710	T	0.47	-17.8676	5.4595	0.16610	0.2756:0.0:0.7244:0.0	.	633;643;1291;1291	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	R	1291;1291;1291;643	ENSP00000339381:G1291R;ENSP00000338509:G1291R;ENSP00000372238:G1291R;ENSP00000342133:G643R	ENSP00000338509:G1291R	G	+	1	0	RGS12	3402237	0.009000	0.17119	0.173000	0.22940	0.054000	0.15201	1.392000	0.34486	1.465000	0.48006	0.655000	0.94253	GGG	.		0.706	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		A	3432439	G	A	3432439	3	1	52	1	0	0	0	0	1	0	0	0	13340	1116	39	1	3991	1	RGS12	4	3432439	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10		3432439	187721837	149	10800											
HGFAC	3083	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3444827	3444827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccttccgctacgggggcCgcatgctgcatgcctgcact	11	17	0	0	rs140691145		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:3444827C>T	ENST00000382774.3	+	3	464	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	HGFAC_ENST00000511533.1_Missense_Mutation_p.R117C	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	117	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTACGGGGGCCGCATGCTGCA	0.721													C|||	1	0.000199681	0	0.0014	5008	,	,		14413	0		0	False		,,,				2504	0				p.R117C		.											.	HGFAC-514	0			c.C349T						.	C	CYS/ARG	2,4384		0,2,2191	17	22	21		349	2.3	1	4	dbSNP_134	21	0,8578		0,0,4289	no	missense	HGFAC	NM_001528.2	180	0,2,6480	TT,TC,CC		0.0,0.0456,0.0154	probably-damaging	117/656	3444827	2,12962	2193	4289	6482	SO:0001583	missense	3083	exon3			GGGGGCCGCATGC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.349C>T	4.37:g.3444827C>T	ENSP00000372224:p.Arg117Cys	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	38	31	NM_001528	0	0	0	0	0	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406950	0.42715	4.56E-4	0.0	ENSG00000109758	ENST00000382774;ENST00000511533	T;T	0.51574	0.7;0.7	3.16	2.28	0.28536	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.64402	U	0.000005	T	0.62356	0.2421	M	0.81682	2.555	0.42444	D	0.992728	D;D	0.89917	1.0;0.999	D;D	0.70016	0.91;0.967	T	0.64567	-0.6377	10	0.66056	D	0.02	.	5.2932	0.15739	0.0:0.8372:0.0:0.1628	.	117;117	D6RAR4;Q04756	.;HGFA_HUMAN	C	117	ENSP00000372224:R117C;ENSP00000421801:R117C	ENSP00000372224:R117C	R	+	1	0	HGFAC	3414625	0.998000	0.40836	0.992000	0.48379	0.225000	0.24961	1.603000	0.36794	1.709000	0.51313	0.306000	0.20318	CGC	C|1.000;T|0.000		0.721	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			T	3444827	C	T	3444827	3	4	52	1	0	0	0	0	1	0	0	0	7113	652	23	1	359	1	HGFAC	4	3444827	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	12388	3444827	187709449	150	10801											
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	36069850	36069851	+	Frame_Shift_Del	DEL	TT	TT	-													aagctagagtccacggactcTttatcacacttttcactgag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:36069850_36069851delTT	ENST00000303965.4	-	33	5282_5283	c.4793_4794delAA	c.(4792-4794)aaafs	p.K1598fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1598					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCACGGACTCTTTATCACACTT	0.45																																					p.1598_1598del		.											.	ARAP2-93	0			c.4793_4794del						.																																			SO:0001589	frameshift_variant	116984	exon33			GGACTCTTTATCA	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.4793_4794delAA	4.37:g.36069850_36069851delTT	ENSP00000302895:p.Lys1598fs	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	38	34	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Del	DEL	ENST00000303965.4	37	CCDS3441.1																																																																																			.		0.45	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		-	36069851	TT	-	36069850	7	5	52	1	0	1	0	1	0	0	0	0	839	1606	56	0	324	0	ARAP2	4	36069850	Frame_Shift_Del	DEL	TT	TCGA-OR-A5LJ-01A-11D-A29I-10	32625023	36069850	155084426	151	10802											
TMEM165	55858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	56283354	56283354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcttaaagatgagcccTgatgagggtcaagaggaact	14	6	1	5			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:56283354T>C	ENST00000381334.5	+	3	782	c.549T>C	c.(547-549)ccT>ccC	p.P183P	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Silent_p.P120P	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	183					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AGATGAGCCCTGATGAGGGTC	0.428																																					p.P183P		.											.	TMEM165-514	0			c.T549C						.						87	87	87					4																	56283354		2203	4300	6503	SO:0001819	synonymous_variant	55858	exon3			GAGCCCTGATGAG	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.549T>C	4.37:g.56283354T>C		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	52	43	NM_018475	0	0	2	35	33	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	CCDS3499.1																																																																																			.		0.428	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		C	56283354	T	C	56283354	2	2	52	1	0	0	0	0	0	0	0	1	16127	1567	55	4		4	TMEM165	4	56283354	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	20213504	56283354	134870922	152	10803											
CXCL9	4283	broad.mit.edu	37	chr4	76924817	76924817	+	Frame_Shift_Del	DEL	T	T	-													agaactttctttttttgatgTtttttcccattcttttgctt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:76924817delT	ENST00000264888.5	-	4	350	c.312delA	c.(310-312)aaafs	p.K104fs	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	104					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.K104N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTTTTGATGTTTTTTCCCAT	0.338																																					p.K104fs		.											.	CXCL9-227	1	Substitution - Missense(1)	ovary(1)	c.312delA						.						160	149	153					4																	76924817		2202	4299	6501	SO:0001589	frameshift_variant	4283	exon4			TTGATGTTTTTTC	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"Endogenous ligands"	7098	protein-coding gene	gene with protein product		601704	"monokine induced by gamma interferon"	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.312delA	4.37:g.76924817delT	ENSP00000354901:p.Lys104fs	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	14	5	NM_002416	0	0	0	0	0	Q503B4	Frame_Shift_Del	DEL	ENST00000264888.5	37	CCDS34014.1																																																																																			.		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			-	76924817	T	-	76924817	7	5	52	1	0	1	0	1	0	0	0	0	4098	1722	60	0	69	0	CXCL9	4	76924817	Frame_Shift_Del	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	20641463	76924817	114229459	153	10804											
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	78987147	78987147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccccacaggtgcttgtGtctatcaggattccttgttg	9	10	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:78987147G>A	ENST00000325942.6	+	2	525	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FRAS1_ENST00000264895.6_Missense_Mutation_p.V29I|FRAS1_ENST00000264899.6_Missense_Mutation_p.V29I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	29	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGTGCTTGTGTCTATCAGGA	0.398																																					p.V29I		.											.	FRAS1-68	0			c.G85A						.						235	217	223					4																	78987147		1862	4098	5960	SO:0001583	missense	80144	exon2			GCTTGTGTCTATC	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.85G>A	4.37:g.78987147G>A	ENSP00000326330:p.Val29Ile	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	53	41	NM_001166133	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277978	0.40294	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674	T;T;T	0.65916	-0.18;-0.18;-0.18	5.9	4.13	0.48395	.	0.657623	0.13391	N	0.391393	T	0.43366	0.1244	N	0.22421	0.69	0.19775	N	0.999952	B;B	0.15141	0.001;0.012	B;B	0.14578	0.002;0.011	T	0.27839	-1.0062	10	0.17369	T	0.5	.	6.4649	0.21975	0.1626:0.1566:0.6808:0.0	.	29;29	E9PHH6;A2RRR8	.;.	I	29	ENSP00000326330:V29I;ENSP00000264895:V29I;ENSP00000264899:V29I	ENSP00000264895:V29I	V	+	1	0	FRAS1	79206171	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.842000	0.39250	0.783000	0.33636	0.563000	0.77884	GTC	.		0.398	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	78987147	G	A	78987147	3	1	52	1	0	0	0	0	1	0	0	0	6066	1377	48	3	91	3	FRAS1	4	78987147	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2062330	78987147	112167129	154	10805											
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	79366741	79366742	+	Frame_Shift_Ins	INS	-	-	A													tcctattcaagacgtcctggINSaaaactacatttactacttt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:79366741_79366742insA	ENST00000325942.6	+	42	6171_6172	c.5731_5732insA	c.(5731-5733)gaafs	p.E1911fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.E1911fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1911					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						AGACGTCCTGGAAAACTACATT	0.396																																					p.E1911fs		.											.	FRAS1-68	0			c.5731_5732insA						.																																			SO:0001589	frameshift_variant	80144	exon42			GTCCTGGAAAACT	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.5735dupA	4.37:g.79366745_79366745dupA	ENSP00000326330:p.Glu1911fs	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	108	13	NM_025074	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	CCDS54772.1																																																																																			.		0.396	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79366742	-	A	79366741	7	5	52	1	0	1	1	0	0	0	0	0	6066	1175	41	0	5897	0	FRAS1	4	79366741	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	379594	79366741	111787535	155	10806											
BMP3	651	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	81967503	81967503	+	Frame_Shift_Del	DEL	A	A	-													ctggggcagaataccagtatAaaaaggatgaggtgtgggag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:81967503delA	ENST00000282701.2	+	2	1248	c.928delA	c.(928-930)aaafs	p.K311fs		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	311					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ATACCAGTATAAAAAGGATGA	0.507																																					p.K310fs		.											.	BMP3-518	0			c.928delA						.						44	50	48					4																	81967503		2202	4299	6501	SO:0001589	frameshift_variant	651	exon2			CAGTATAAAAAGG	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.928delA	4.37:g.81967503delA	ENSP00000282701:p.Lys311fs	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	79	69	NM_001201	0	0	0	0	0	Q4VAS5	Frame_Shift_Del	DEL	ENST00000282701.2	37	CCDS3588.1																																																																																			.		0.507	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			-	81967503	A	-	81967503	7	5	52	1	0	1	0	1	0	0	0	0	1463	363	13	0	934	0	BMP3	4	81967503	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	2600762	81967503	109186773	156	10807	107	2									
BMP3	651	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr4	81967507	81967507	+	Missense_Mutation	SNP	A	A	T													ggcagaataccagtataaaaAggatgaggtgtgggaggaga							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:81967507A>T	ENST00000282701.2	+	2	1252	c.932A>T	c.(931-933)aAg>aTg	p.K311M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	311					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CAGTATAAAAAGGATGAGGTG	0.512																																					p.K311M		.											.	BMP3-518	0			c.A932T						.						44	50	48					4																	81967507		2203	4299	6502	SO:0001583	missense	651	exon2			ATAAAAAGGATGA	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.932A>T	4.37:g.81967507A>T	ENSP00000282701:p.Lys311Met	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	80	73	NM_001201	0	0	0	0	0	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	4.337	0.061955	0.08339	.	.	ENSG00000152785	ENST00000282701	T	0.74947	-0.89	5.16	2.67	0.31697	.	0.352028	0.35555	N	0.003139	T	0.58977	0.2160	L	0.34521	1.04	0.22378	N	0.999154	B	0.02656	0.0	B	0.01281	0.0	T	0.51268	-0.8727	10	0.54805	T	0.06	.	5.4368	0.16486	0.6584:0.0:0.0735:0.2681	.	311	P12645	BMP3_HUMAN	M	311	ENSP00000282701:K311M	ENSP00000282701:K311M	K	+	2	0	BMP3	82186531	1.000000	0.71417	0.830000	0.32933	0.011000	0.07611	2.110000	0.41873	0.359000	0.24239	-1.229000	0.01577	AAG	A|1.000;G|0.000		0.512	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967507	A	T	81967507	3	4	52	1	0	0	0	0	1	0	0	0	1463	72	3	5	938	5	BMP3	4	81967507	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	4	81967507	109186769	157	10808	107	2									
METAP1	23173	bcgsc.ca	37	chr4	99982342	99982342	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggccagatggttggacTgcggtgacaagagacggaaa	15	8	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:99982342T>G	ENST00000296411.6	+	11	1169	c.1035T>G	c.(1033-1035)acT>acG	p.T345T	METAP1_ENST00000544031.1_Silent_p.T295T	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	345					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)		ATGGTTGGACTGCGGTGACAA	0.483																																					p.T345T		.											.	.	0			c.T1035G						.						175	178	177					4																	99982342		1958	4146	6104	SO:0001819	synonymous_variant	23173	exon11			TTGGACTGCGGTG	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.1035T>G	4.37:g.99982342T>G		Somatic	180	4		WXS	Illumina GAIIx	Phase_I	101	44	NM_015143	0	0	5	10	5	B4E2E6	Silent	SNP	ENST00000296411.6	37	CCDS47110.1																																																																																			.		0.483	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		G	99982342	T	G	99982342	2	3	52	1	0	0	0	0	0	0	0	1	9524	1567	55	5		5	METAP1	4	99982342	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	18014835	99982342	91171934	158	10809											
ADH7	131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	100349278	100349278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggttgccatctgggttgcGacaagcattgcattctctac	10	10	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:100349278G>A	ENST00000209665.4	-	4	589	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	ADH7_ENST00000482593.1_Missense_Mutation_p.R48C|ADH7_ENST00000437033.2_Missense_Mutation_p.R105C|ADH7_ENST00000476959.1_Missense_Mutation_p.R125C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	117					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TCTGGGTTGCGACAAGCATTG	0.343																																					p.R125C		.											.	ADH7-227	0			c.C373T						.						146	146	146					4																	100349278		2203	4300	6503	SO:0001583	missense	131	exon4			GGTTGCGACAAGC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.349C>T	4.37:g.100349278G>A	ENSP00000209665:p.Arg117Cys	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	133	106	NM_001166504	0	0	0	0	0	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091407	0.55968	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	4.91	-4.26	0.03755	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.515963	0.19924	N	0.103003	T	0.06781	0.0173	M	0.75150	2.29	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.28170	-1.0052	10	0.72032	D	0.01	-4.2334	4.6986	0.12816	0.4511:0.0:0.2356:0.3133	.	117	P40394	ADH7_HUMAN	C	105;117;48;125;48	ENSP00000414254:R105C;ENSP00000209665:R117C;ENSP00000420613:R48C;ENSP00000420269:R125C;ENSP00000420300:R48C	ENSP00000209665:R117C	R	-	1	0	ADH7	100568301	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	-0.998000	0.03701	-0.461000	0.06993	0.655000	0.94253	CGC	.		0.343	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		A	100349278	G	A	100349278	3	1	52	1	0	0	0	0	1	0	0	0	313	1058	37	1	835	1	ADH7	4	100349278	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	366936	100349278	90804998	159	10810											
DDIT4L	115265	bcgsc.ca	37	chr4	101108877	101108877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatcagtgagtaaagtTttttcttaacaagtcgaaat	6	6	2	1	rs201713115	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:101108877T>C	ENST00000273990.2	-	3	753	c.539A>G	c.(538-540)aAa>aGa	p.K180R	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	180					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.K180R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TGAGTAAAGTTTTTTCTTAAC	0.378													T|||	341	0.0680911	0.0756	0.0692	5008	,	,		18390	0		0.0885	False		,,,				2504	0.1063				p.K180R		.											.	DDIT4L-91	1	Substitution - Missense(1)	pancreas(1)	c.A539G						.						58	64	62					4																	101108877		2203	4300	6503	SO:0001583	missense	115265	exon3			TAAAGTTTTTTCT	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.539A>G	4.37:g.101108877T>C	ENSP00000354830:p.Lys180Arg	Somatic	146	1		WXS	Illumina GAIIx	Phase_I	104	5	NM_145244	0	0	7	7	0	B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171331	0.78452	.	.	ENSG00000145358	ENST00000273990	T	0.54071	0.59	5.95	4.78	0.61160	.	0.180058	0.47093	N	0.000244	T	0.52175	0.1718	M	0.79475	2.455	0.39168	D	0.962542	B	0.15473	0.013	B	0.20184	0.028	T	0.55933	-0.8062	10	0.87932	D	0	-11.7506	7.04	0.25015	0.0:0.0755:0.149:0.7755	.	180	Q96D03	DDT4L_HUMAN	R	180	ENSP00000354830:K180R	ENSP00000354830:K180R	K	-	2	0	DDIT4L	101327900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.719000	0.47244	1.089000	0.41292	0.533000	0.62120	AAA	.		0.378	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		C	101108877	T	C	101108877	3	2	52	1	0	0	0	0	1	0	0	0	4341	1841	64	4	46	4	DDIT4L	4	101108877	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	759599	101108877	90045399	160	10811											
TET2	54790	broad.mit.edu;bcgsc.ca	37	chr4	106196951	106196951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatcattcaccttctcacAtaatccataactacagtgca	2	13	3	0	rs2454206	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:106196951A>G	ENST00000540549.1	+	11	6144	c.5284A>G	c.(5284-5286)Ata>Gta	p.I1762V	TET2_ENST00000380013.4_Missense_Mutation_p.I1762V|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.I1783V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1762			I -> V (in dbSNP:rs2454206). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19483684}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.I1762fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCTTCTCACATAATCCATAA	0.458			"Mis N, F"		MDS								A|||	1154	0.230431	0.0658	0.2795	5008	,	,		23352	0.1895		0.3718	False		,,,				2504	0.3149				p.I1762V		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	c.A5284G						.	A	VAL/ILE	124,1260		11,102,579	19	16	17		5284	-10.3	0	4	dbSNP_100	17	1188,1994		223,742,626	yes	missense	TET2	NM_001127208.2	29	234,844,1205	GG,GA,AA		37.335,8.9595,28.7341	benign	1762/2003	106196951	1312,3254	692	1591	2283	SO:0001583	missense	54790	exon11			TCTCACATAATCC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5284A>G	4.37:g.106196951A>G	ENSP00000442788:p.Ile1762Val	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	57	5	NM_001127208	0	0	1	1	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	526	0.24084249084249085	33	0.06707317073170732	92	0.2541436464088398	107	0.18706293706293706	294	0.38786279683377306	A	8.920	0.960733	0.18583	0.089595	0.37335	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.01963	4.53;4.53;4.53	5.16	-10.3	0.00346	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.00012	0.0000	L	0.43152	1.355	0.58432	P	1.0000000000287557E-6	B;B	0.15141	0.001;0.012	B;B	0.19666	0.001;0.026	T	0.48340	-0.9044	8	0.13853	T	0.58	0.7576	3.9686	0.09443	0.1159:0.4443:0.2131:0.2267	rs2454206;rs52829850;rs58031039;rs2454206	1783;1762	E7EQS8;Q6N021	.;TET2_HUMAN	V	1762;1783;1762	ENSP00000442788:I1762V;ENSP00000425443:I1783V;ENSP00000369351:I1762V	ENSP00000369351:I1762V	I	+	1	0	TET2	106416400	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.301000	0.08232	-1.622000	0.01560	-0.456000	0.05471	ATA	A|0.768;G|0.232		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106196951	A	G	106196951	3	3	52	1	0	0	0	0	1	0	0	0	15817	217	8	4	5407	4	TET2	4	106196951	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	5088074	106196951	84957325	161	10812											
QRFPR	84109	hgsc.bcm.edu;bcgsc.ca	37	chr4	122301511	122301513	+	In_Frame_Del	DEL	AGA	AGA	-													gagcatggtgacgggaatgcAgaagaaggtgatgagcaggt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:122301511_122301513delAGA	ENST00000394427.2	-	1	701_703	c.290_292delTCT	c.(289-294)ttctgc>tgc	p.F97del	QRFPR_ENST00000334383.5_In_Frame_Del_p.F97del	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	97					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACGGGAATGCAGAAGAAGGTGAT	0.571																																					p.97_98del		.											.	QRFPR-90	0			c.290_292del						.																																			SO:0001651	inframe_deletion	84109	exon1			GAATGCAGAAGAA	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.290_292delTCT	4.37:g.122301514_122301516delAGA	ENSP00000377948:p.Phe97del	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	134	110	NM_198179	0	0	0	0	0		In_Frame_Del	DEL	ENST00000394427.2	37	CCDS3719.1																																																																																			.		0.571	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		-	122301513	AGA	-	122301511	7	5	52	1	0	1	0	1	0	0	0	0	12923	188	7	0	1027	0	QRFPR	4	122301511	In_Frame_Del	DEL	AGA	TCGA-OR-A5LJ-01A-11D-A29I-10	16104560	122301511	68852765	162	10813											
FBXW7	55294	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	153249473	153249473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgatctgtagatccactAatgatgatgttgtctctcat	8	9	3	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:153249473A>G	ENST00000281708.4	-	9	2534	c.1305T>C	c.(1303-1305)atT>atC	p.I435I	FBXW7_ENST00000603548.1_Silent_p.I435I|FBXW7_ENST00000393956.3_Silent_p.I259I|FBXW7_ENST00000263981.5_Silent_p.I355I|FBXW7_ENST00000603841.1_Silent_p.I435I|FBXW7_ENST00000296555.5_Silent_p.I317I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	435					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)				TAGATCCACTAATGATGATGT	0.418			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																p.I435I		.		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	.	FBXW7-6296	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.T1305C						.						314	267	283					4																	153249473		2203	4300	6503	SO:0001819	synonymous_variant	55294	exon9			TCCACTAATGATG	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.1305T>C	4.37:g.153249473A>G		Somatic	170	2		WXS	Illumina GAIIx	Phase_I	130	111	NM_033632	0	0	0	3	3	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																			.		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			G	153249473	A	G	153249473	2	3	52	1	0	0	0	0	0	0	0	1	5791	358	13	4		4	FBXW7	4	153249473	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	30947962	153249473	37904803	163	10814											
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	159092445	159092445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtccttggacgccggctgCtccagagcttacgcacccgc	13	16	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:159092445C>G	ENST00000296530.8	-	2	704	c.83G>C	c.(82-84)aGc>aCc	p.S28T	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S28T|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.S28T|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S28T	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	28						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACGCCGGCTGCTCCAGAGCTT	0.622																																					p.S28T		.											.	FAM198B-90	0			c.G83C						.						40	41	40					4																	159092445		2199	4296	6495	SO:0001583	missense	51313	exon2			CGGCTGCTCCAGA		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.83G>C	4.37:g.159092445C>G	ENSP00000296530:p.Ser28Thr	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	123	105	NM_016613	0	0	0	6	6	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759046	0.49468	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.30448	1.53;1.53	5.21	5.21	0.72293	.	0.100317	0.64402	D	0.000004	T	0.22859	0.0552	L	0.33485	1.01	0.29691	N	0.840969	B;B;P	0.35793	0.394;0.208;0.521	B;B;B	0.30782	0.12;0.047;0.111	T	0.10154	-1.0642	10	0.26408	T	0.33	0.2619	15.59	0.76521	0.0:0.8526:0.1474:0.0	.	28;28;28	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	T	28	ENSP00000296530:S28T;ENSP00000377396:S28T	ENSP00000296530:S28T	S	-	2	0	FAM198B	159311895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.664000	0.46783	2.705000	0.92388	0.655000	0.94253	AGC	.		0.622	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		G	159092445	C	G	159092445	3	3	52	1	0	0	0	0	1	0	0	0	5548	797	28	3	1597	3	FAM198B	4	159092445	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5842972	159092445	32061831	164	10815											
SNX25	83891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	186272686	186272686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacctcaaggttatcgacGtgcaggggaaaaaaaattct	9	8	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:186272686G>A	ENST00000504273.1	+	14	2191	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	SNX25_ENST00000264694.8_Missense_Mutation_p.V633M|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	633					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)		GGTTATCGACGTGCAGGGGAA	0.443																																					p.V633M		.											.	SNX25-273	0			c.G1897A						.						152	144	147					4																	186272686		2203	4300	6503	SO:0001583	missense	83891	exon14			ATCGACGTGCAGG	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.1897G>A	4.37:g.186272686G>A	ENSP00000426255:p.Val633Met	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	68	49	NM_031953	0	0	0	4	4	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297986	0.60086	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.10192	2.9;2.9	5.94	5.05	0.67936	.	0.190528	0.47455	D	0.000229	T	0.11367	0.0277	L	0.29908	0.895	0.33613	D	0.603819	P;D	0.60160	0.943;0.987	B;P	0.48488	0.24;0.579	T	0.04440	-1.0951	10	0.46703	T	0.11	-17.8766	10.0464	0.42188	0.0711:0.1387:0.7902:0.0	.	166;633	Q9H5Q8;Q9H3E2	.;SNX25_HUMAN	M	633;633;166	ENSP00000426255:V633M;ENSP00000264694:V633M	ENSP00000264693:V166M	V	+	1	0	SNX25	186509680	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.404000	0.52623	2.820000	0.97059	0.650000	0.86243	GTG	.		0.443	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186272686	G	A	186272686	3	1	52	1	0	0	0	0	1	0	0	0	14941	1145	40	1	1947	1	SNX25	4	186272686	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	27180241	186272686	4881590	165	10816											
FAT1	2195	broad.mit.edu	37	chr4	187539571	187539574	+	Frame_Shift_Del	DEL	ATCT	ATCT	-													ctatgttctgctcggatgagAtctatctctgttccaatagg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr4:187539571_187539574delATCT	ENST00000441802.2	-	10	8375_8378	c.8166_8169delAGAT	c.(8164-8169)atagatfs	p.ID2722fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2722	Cadherin 25. {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						CTCGGATGAGATCTATCTCTGTTC	0.426										HNSCC(5;0.00058)																											p.2722_2723del	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.8166_8169del						.																																			SO:0001589	frameshift_variant	2195	exon10			GATGAGATCTATC	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.8166_8169delAGAT	4.37:g.187539575_187539578delATCT	ENSP00000406229:p.Ile2722fs	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	111	8	NM_005245	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187539574	ATCT	-	187539571	7	5	52	1	0	1	0	1	0	0	0	0	5711	330	12	0	5669	0	FAT1	4	187539571	Frame_Shift_Del	DEL	ATCT	TCGA-OR-A5LJ-01A-11D-A29I-10	1266885	187539571	3614705	166	10817											
LRRC14B	389257	hgsc.bcm.edu;broad.mit.edu	37	chr5	192355	192355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgcagcagcttctggcCcaggtgggcttcccccggct	13	16	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:192355C>A	ENST00000328278.3	+	1	730	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	234										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AGCTTCTGGCCCAGGTGGGCT	0.711																																					p.A234A		.											.	LRRC14B-69	0			c.C702A						.						10	13	12					5																	192355		2054	4182	6236	SO:0001819	synonymous_variant	389257	exon1			TCTGGCCCAGGTG		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.702C>A	5.37:g.192355C>A		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	159	12	NM_001080478	0	0	0	0	0		Silent	SNP	ENST00000328278.3	37	CCDS47184.1																																																																																			.		0.711	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		A	192355	C	A	192355	2	1	52	1	0	0	0	0	0	0	0	1	9004	610	22	3		3	LRRC14B	5	192355	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		192355	180722905	167	10818											
DAP	1611	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	10681252	10681252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctggtgagccacctgCgcagccgccggggggaaatc	16	13	1	1	rs370396587		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:10681252C>T	ENST00000230895.6	-	4	428	c.225G>A	c.(223-225)gcG>gcA	p.A75A	DAP_ENST00000432074.2_Missense_Mutation_p.R61H	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)	p.A75A(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GAGCCACCTGCGCAGCCGCCG	0.587																																					p.A75A		.											.	DAP-90	1	Substitution - coding silent(1)	endometrium(1)	c.G225A						.	C		1,4399		0,1,2199	56	48	51		225	-6	0.6	5		51	1,8599		0,1,4299	no	coding-synonymous	DAP	NM_004394.2		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		75/103	10681252	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	1611	exon4			CACCTGCGCAGCC	X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.225G>A	5.37:g.10681252C>T		Somatic	64	1		WXS	Illumina GAIIx	Phase_I	94	35	NM_004394	0	0	24	52	28	Q6FGC3|Q9BUC9	Silent	SNP	ENST00000230895.6	37	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490641	0.64074	2.27E-4	1.16E-4	ENSG00000112977	ENST00000432074	.	.	.	4.93	-6.03	0.02185	.	0.986982	0.08199	N	0.982593	T	0.23330	0.0564	.	.	.	0.19300	N	0.99998	B	0.15141	0.012	B	0.13407	0.009	T	0.33471	-0.9867	8	0.72032	D	0.01	-6.3781	2.2912	0.04139	0.1652:0.2323:0.3781:0.2244	.	61	B4DQ75	.	H	61	.	ENSP00000394163:R61H	R	-	2	0	DAP	10734252	0.013000	0.17824	0.638000	0.29380	0.756000	0.42949	-1.853000	0.01666	-0.779000	0.04560	-0.176000	0.13171	CGC	.		0.587	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394		T	10681252	C	T	10681252	2	4	52	1	0	0	0	0	0	0	0	1	4242	755	27	1		1	DAP	5	10681252	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10488897	10681252	170234008	168	10819											
DAB2	1601	hgsc.bcm.edu;bcgsc.ca	37	chr5	39390566	39390567	+	Frame_Shift_Ins	INS	-	-	A													tgttgcccggtttttatggcINSaaaaaactgatgctggcctt					rs1131363		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:39390566_39390567insA	ENST00000320816.6	-	5	908_909	c.441_442insT	c.(439-444)tttgccfs	p.A148fs	DAB2_ENST00000339788.6_Frame_Shift_Ins_p.A148fs|DAB2_ENST00000545653.1_Frame_Shift_Ins_p.A148fs|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Frame_Shift_Ins_p.A148fs	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	148	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.			A -> T (in Ref. 2; AAA98975). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTTTTATGGCAAAAAACTGAT	0.45																																					p.A148fs		.											.	DAB2-227	0			c.442_443insT						.																																			SO:0001589	frameshift_variant	1601	exon5			TTATGGCAAAAAA	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.442dupT	5.37:g.39390572_39390572dupA	ENSP00000313391:p.Ala148fs	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	122	37	NM_001343	0	0	0	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Frame_Shift_Ins	INS	ENST00000320816.6	37	CCDS34149.1																																																																																			.		0.45	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		A	39390567	-	A	39390566	7	5	52	1	0	1	1	0	0	0	0	0	4227	710	25	0	1910	0	DAB2	5	39390566	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	28709314	39390566	141524694	169	10820											
DDX4	54514	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	55056049	55056049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggatgatggaccttctcGaagagatcatttcatgaaaa	9	6	3	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:55056049G>A	ENST00000505374.1	+	4	241	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.R50Q|DDX4_ENST00000353507.5_Missense_Mutation_p.R50Q|DDX4_ENST00000514278.2_Missense_Mutation_p.R50Q|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	50					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GGACCTTCTCGAAGAGATCAT	0.373																																					p.R50Q		.											.	DDX4-227	0			c.G149A						.						183	180	181					5																	55056049		2203	4300	6503	SO:0001583	missense	54514	exon4			CTTCTCGAAGAGA	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.149G>A	5.37:g.55056049G>A	ENSP00000424838:p.Arg50Gln	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	150	68	NM_001166533	0	0	0	0	0	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014821	0.35511	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T	0.51071	2.03;1.99;2.05;3.52;0.76;2.03;0.72	5.04	0.19	0.15125	.	1.343540	0.04640	N	0.405232	T	0.35248	0.0925	N	0.19112	0.55	0.09310	N	1	D;P;P	0.55172	0.97;0.66;0.717	P;B;B	0.47346	0.544;0.255;0.13	T	0.17471	-1.0368	10	0.24483	T	0.36	-9.2527	4.3944	0.11356	0.358:0.1584:0.4836:0.0	.	50;50;50	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	Q	50	ENSP00000334167:R50Q;ENSP00000425359:R50Q;ENSP00000424838:R50Q;ENSP00000427167:R50Q;ENSP00000424112:R50Q;ENSP00000347087:R50Q;ENSP00000427522:R50Q	ENSP00000334167:R50Q	R	+	2	0	DDX4	55091806	0.998000	0.40836	0.241000	0.24154	0.817000	0.46193	1.124000	0.31320	-0.159000	0.11021	-0.251000	0.11542	CGA	.		0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55056049	G	A	55056049	3	1	52	1	0	0	0	0	1	0	0	0	4369	1058	37	1	159	1	DDX4	5	55056049	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	15665483	55056049	125859211	170	10821											
DDX4	54514	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	55063742	55063742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgaagataatccaacacGgaacagagggttttccaaga	10	9	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:55063742G>T	ENST00000505374.1	+	7	460	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.R123L|DDX4_ENST00000353507.5_Missense_Mutation_p.R123L|DDX4_ENST00000514278.2_Intron|DDX4_ENST00000511853.1_Missense_Mutation_p.R24L|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AATCCAACACGGAACAGAGGG	0.333																																					p.R123L		.											.	DDX4-227	0			c.G368T						.						83	83	83					5																	55063742		2203	4300	6503	SO:0001583	missense	54514	exon7			CAACACGGAACAG	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.368G>T	5.37:g.55063742G>T	ENSP00000424838:p.Arg123Leu	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	220	108	NM_001142549	0	0	0	0	0	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035220	0.35893	.	.	ENSG00000152670	ENST00000353507;ENST00000505374;ENST00000515709;ENST00000514679;ENST00000354991;ENST00000511491;ENST00000511853	T;T;T;T;T;T;T	0.54866	1.94;1.95;0.81;0.82;1.94;0.55;1.91	5.36	4.49	0.54785	.	0.081859	0.46758	D	0.000264	T	0.46964	0.1420	L	0.53249	1.67	0.80722	D	1	D;P;P	0.58268	0.982;0.489;0.811	B;B;B	0.43251	0.413;0.19;0.177	T	0.44847	-0.9301	10	0.36615	T	0.2	-18.9651	10.0407	0.42155	0.0907:0.0:0.9093:0.0	.	24;123;123	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	123;123;97;123;123;123;24	ENSP00000334167:R123L;ENSP00000424838:R123L;ENSP00000424779:R97L;ENSP00000424112:R123L;ENSP00000347087:R123L;ENSP00000427522:R123L;ENSP00000423123:R24L	ENSP00000334167:R123L	R	+	2	0	DDX4	55099499	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.847000	0.39299	1.484000	0.48361	0.655000	0.94253	CGG	.		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		T	55063742	G	T	55063742	3	4	52	1	0	0	0	0	1	0	0	0	4369	1116	39	2	431	2	DDX4	5	55063742	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7693	55063742	125851518	171	10822											
ERCC8	1161	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	60224762	60224765	+	Frame_Shift_Del	DEL	TTTA	TTTA	-													attctttcaacatctctgtcTttatttaattccagtcccaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TTTA	TTTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:60224762_60224765delTTTA	ENST00000265038.5	-	2	141_144	c.99_102delTAAA	c.(97-102)aataaafs	p.NK33fs	ERCC8_ENST00000426742.2_5'UTR|ERCC8_ENST00000543101.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	33					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CATCTCTGTCTTTATTTAATTCCA	0.294																																					p.33_34del		.											.	ERCC8-227	0			c.99_102del						.																																			SO:0001589	frameshift_variant	1161	exon2			TCTGTCTTTATTT	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.99_102delTAAA	5.37:g.60224766_60224769delTTTA	ENSP00000265038:p.Asn33fs	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	107	44	NM_000082	0	0	0	0	0	B2RB64|Q6FHX5|Q96GB9	Frame_Shift_Del	DEL	ENST00000265038.5	37	CCDS3978.1																																																																																			.		0.294	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		-	60224765	TTTA	-	60224762	7	5	52	1	0	1	0	1	0	0	0	0	5235	1606	56	0	1132	0	ERCC8	5	60224762	Frame_Shift_Del	DEL	TTTA	TCGA-OR-A5LJ-01A-11D-A29I-10	5161020	60224762	120690498	172	10823											
BDP1	55814	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	70858262	70858262	+	Frame_Shift_Del	DEL	A	A	-													tccattcaatgaaagccaggAaaaaaatcgagagtcctctg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:70858262delA	ENST00000358731.4	+	38	7921	c.7658delA	c.(7657-7659)gaafs	p.E2553fs	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2553					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)		GAAAGCCAGGAAAAAAATCGA	0.373																																					p.E2553fs		.											.	BDP1-92	0			c.7658delA						.						80	74	76					5																	70858262		1817	4085	5902	SO:0001589	frameshift_variant	55814	exon38			GCCAGGAAAAAAA	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.7658delA	5.37:g.70858262delA	ENSP00000351575:p.Glu2553fs	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	111	13	NM_018429	0	0	0	0	0	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	ENST00000358731.4	37	CCDS43328.1																																																																																			.		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		-	70858262	A	-	70858262	7	5	52	1	0	1	0	1	0	0	0	0	1396	246	9	0	7808	0	BDP1	5	70858262	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	10633500	70858262	110056998	173	10824											
NSA2	10412	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	74066537	74066539	+	In_Frame_Del	DEL	AAG	AAG	-													ttattcgaacaggaaagagaAagaagaaggcatggaagaga					rs374250860		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:74066537_74066539delAAG	ENST00000296802.5	+	4	793_795	c.424_426delAAG	c.(424-426)aagdel	p.K144del	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	144	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						AGGAAAGAGAAAGAAGAAGGCAT	0.394																																					p.142_142del		.											.	NSA2-91	0			c.424_426del						.			231,4035		115,1,2017						-1	1			97	340,7914		165,10,3952	no	coding	NSA2	NM_014886.3		280,11,5969	A1A1,A1R,RR		4.1192,5.4149,4.5607				571,11949				SO:0001651	inframe_deletion	10412	exon4			AAGAGAAAGAAGA	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.424_426delAAG	5.37:g.74066543_74066545delAAG	ENSP00000296802:p.Lys144del	Somatic	392	0		WXS	Illumina GAIIx	Phase_I	608	256	NM_001271665	0	0	0	0	0		In_Frame_Del	DEL	ENST00000296802.5	37	CCDS4025.1																																																																																			.		0.394	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		-	74066539	AAG	-	74066537	7	5	52	1	0	1	0	1	0	0	0	0	10707	15	1	0	438	0	NSA2	5	74066537	In_Frame_Del	DEL	AAG	TCGA-OR-A5LJ-01A-11D-A29I-10	3208275	74066537	106848723	174	10825											
PDE8B	8622	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	76709039	76709039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggttccaagtgatcgaaGccaactaccactcttccaat	6	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:76709039G>A	ENST00000264917.5	+	17	1861	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	PDE8B_ENST00000340978.3_Missense_Mutation_p.A559T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A509T|PDE8B_ENST00000333194.4_Missense_Mutation_p.A551T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A586T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A71T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	606	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGTGATCGAAGCCAACTACCA	0.478																																					p.A606T		.											.	PDE8B-90	0			c.G1816A						.						206	189	195					5																	76709039		2203	4300	6503	SO:0001583	missense	8622	exon17			ATCGAAGCCAACT	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1816G>A	5.37:g.76709039G>A	ENSP00000264917:p.Ala606Thr	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	232	25	NM_003719	0	0	35	35	0	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390638	0.62066	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.7	4.83	0.62350	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.047960	0.85682	D	0.000000	T	0.75199	0.3817	M	0.64404	1.975	0.80722	D	1	P;B;B;B;B	0.37663	0.604;0.181;0.282;0.181;0.113	B;B;B;B;B	0.36289	0.221;0.073;0.106;0.073;0.033	T	0.73968	-0.3815	10	0.32370	T	0.25	.	16.2143	0.82195	0.0:0.0:0.866:0.134	.	509;559;551;586;606	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	559;509;606;586;551;71	ENSP00000345446:A559T;ENSP00000330428:A509T;ENSP00000264917:A606T;ENSP00000345646:A586T;ENSP00000331336:A551T;ENSP00000423461:A71T	ENSP00000264917:A606T	A	+	1	0	PDE8B	76744795	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.690000	0.74567	1.407000	0.46875	0.561000	0.74099	GCC	.		0.478	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		A	76709039	G	A	76709039	3	1	52	1	0	0	0	0	1	0	0	0	11693	971	34	3	1882	3	PDE8B	5	76709039	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2642502	76709039	104206221	175	10826											
NR2F1	7025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	92929487	92929487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatcgaaactctcatccGcgatatgttactgtctggga	8	13	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:92929487G>A	ENST00000327111.3	+	3	2898	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	404					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACTCTCATCCGCGATATGTTA	0.587																																					p.R404H		.											.	NR2F1-227	0			c.G1211A						.						132	122	126					5																	92929487		2203	4300	6503	SO:0001583	missense	7025	exon3			TCATCCGCGATAT	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1211G>A	5.37:g.92929487G>A	ENSP00000325819:p.Arg404His	Somatic	332	1		WXS	Illumina GAIIx	Phase_I	332	165	NM_005654	0	0	1	1	0		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928131	0.92389	.	.	ENSG00000175745	ENST00000327111	T	0.52057	0.68	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73588	-0.3935	10	0.72032	D	0.01	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	404	P10589	COT1_HUMAN	H	404	ENSP00000325819:R404H	ENSP00000325819:R404H	R	+	2	0	NR2F1	92955243	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC	.		0.587	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		A	92929487	G	A	92929487	3	1	52	1	0	0	0	0	1	0	0	0	10666	1087	38	1	1221	1	NR2F1	5	92929487	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	16220448	92929487	87985773	176	10827											
C5orf36	285600	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	93807171	93807171	+	Splice_Site	DEL	T	T	-													ttaatttaaacaacactcacTttttagtcatttccttcatc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:93807171delT	ENST00000513200.3	-	8	1793	c.1721delA	c.(1720-1722)aaa>aa	p.K574fs	KIAA0825_ENST00000427991.2_Splice_Site_p.K574fs|KIAA0825_ENST00000312498.7_Splice_Site_p.K574fs	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	574										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CAACACTCACTTTTTAGTCAT	0.363																																					p.K574fs		.											.	KIAA0825-91	0			c.1721delA						.						97	82	87					5																	93807171		692	1591	2283	SO:0001630	splice_region_variant	285600	exon9			ACTCACTTTTTAG	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.1721+1A>-	5.37:g.93807171delT		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	136	70	NM_001145678	0	0	0	0	0	O94914|Q6ZNN2	Frame_Shift_Del	DEL	ENST00000513200.3	37																																																																																				.		0.363	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	Frame_Shift_Del	-	93807171	T	-	93807171	8	5	52	1	0	1	0	1	0	0	1	0	2302	1623	56	0	2158	0	C5orf36	5	93807171	Splice_Site	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	877684	93807171	87108089	177	10828											
WDR36	134430	broad.mit.edu	37	chr5	110428267	110428267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggttcagcgcgctcaagcGccggttctatgtaacaacct	11	13	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:110428267G>T	ENST00000513710.2	+	1	285	c.281G>T	c.(280-282)cGc>cTc	p.R94L	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000506538.2_Missense_Mutation_p.R94L|WDR36_ENST00000505303.1_Missense_Mutation_p.R38L			Q8NI36	WDR36_HUMAN	WD repeat domain 36	94					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCGCTCAAGCGCCGGTTCTAT	0.567																																					p.R94L		.											.	WDR36-92	0			c.G281T						.						37	37	37					5																	110428267		2202	4300	6502	SO:0001583	missense	134430	exon1			TCAAGCGCCGGTT	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.281G>T	5.37:g.110428267G>T	ENSP00000424628:p.Arg94Leu	Somatic	59	2		WXS	Illumina GAIIx	Phase_I	116	10	NM_139281	0	0	0	0	0	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789609	0.70337	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.28454	1.61;1.61;3.28	5.98	5.11	0.69529	WD40 repeat-like-containing domain (1);	0.108665	0.64402	D	0.000010	T	0.28599	0.0708	M	0.67397	2.05	0.58432	D	0.999996	P	0.38767	0.646	B	0.30855	0.121	T	0.15206	-1.0445	10	0.87932	D	0	-5.4709	9.7297	0.40352	0.0738:0.1425:0.7836:0.0	.	94	Q8NI36	WDR36_HUMAN	L	94;94;38	ENSP00000423067:R94L;ENSP00000424628:R94L;ENSP00000422158:R38L	ENSP00000422158:R38L	R	+	2	0	WDR36	110456166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.469000	0.60169	1.520000	0.48965	0.650000	0.86243	CGC	.		0.567	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		T	110428267	G	T	110428267	3	4	52	1	0	0	0	0	1	0	0	0	17339	1087	38	2	283	2	WDR36	5	110428267	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	16621096	110428267	70486993	178	10829											
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	115813772	115813772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcacacaggtagagaaCgcaacatacagagagctgct	9	9	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:115813772C>T	ENST00000343348.6	-	14	2293	c.1506G>A	c.(1504-1506)gcG>gcA	p.A502A	SEMA6A_ENST00000257414.8_Silent_p.A502A|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.A502A|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.A34A	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	502	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)		AGGTAGAGAACGCAACATACA	0.438																																					p.A502A		.											.	SEMA6A-92	0			c.G1506A						.						137	133	134					5																	115813772		2035	4202	6237	SO:0001819	synonymous_variant	57556	exon14			AGAGAACGCAACA	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.1506G>A	5.37:g.115813772C>T		Somatic	207	0		WXS	Illumina GAIIx	Phase_I	260	29	NM_020796	0	0	7	7	0	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049709	0.19827	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70321	-0.4904	4	.	.	.	.	13.6542	0.62328	0.0:0.3071:0.466:0.2269	.	.	.	.	H	72	.	.	R	-	2	0	SEMA6A	115841671	0.000000	0.05858	0.200000	0.23457	0.959000	0.62525	-2.482000	0.00981	-2.680000	0.00409	-1.188000	0.01700	CGT	.		0.438	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		T	115813772	C	T	115813772	2	4	52	1	0	0	0	0	0	0	0	1	14084	523	19	1		1	SEMA6A	5	115813772	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5385505	115813772	65101488	179	10830											
SEPT8	23176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	132097247	132097247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtgggtctgctcgcGgaggtcttccatgttcaccc	13	14	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:132097247G>A	ENST00000378719.2	-	7	1102	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287C|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289C|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289C|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229C	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	289	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCTGCTCGCGGAGGTCTTCC	0.592																																					p.R289C		.											.	SEPT8-70	0			c.C865T						.						67	74	72					5																	132097247		2191	4296	6487	SO:0001583	missense	23176	exon7			GCTCGCGGAGGTC	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.865C>T	5.37:g.132097247G>A	ENSP00000367991:p.Arg289Cys	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	156	72	NM_015146	0	0	41	74	33	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277135	0.80580	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.28	5.28	0.74379	.	0.053680	0.64402	D	0.000001	D	0.93429	0.7904	H	0.95187	3.635	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;0.999;0.996;1.0	D	0.94913	0.8066	10	0.87932	D	0	.	13.8337	0.63398	0.0:0.0:0.8472:0.1528	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	C	289;287;289;229;289;229;287;289	ENSP00000367991:R289C;ENSP00000367993:R287C;ENSP00000296873:R289C;ENSP00000399840:R229C;ENSP00000367978:R289C;ENSP00000367971:R229C;ENSP00000367973:R287C;ENSP00000394766:R289C	ENSP00000296873:R289C	R	-	1	0	SEPT8	132125146	1.000000	0.71417	0.838000	0.33150	0.862000	0.49288	2.857000	0.48349	2.470000	0.83445	0.561000	0.74099	CGC	.		0.592	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		A	132097247	G	A	132097247	3	1	52	1	0	0	0	0	1	0	0	0	14115	1116	39	1	657	1	SEPT8	5	132097247	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	16283475	132097247	48818013	180	10831											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	52	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	52437	132149684	48765576	181	10832											
FSTL4	23105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	132569152	132569152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacagctgctcgtggccGgaagcatggcaggtgtaatt	15	8	0	0	rs190908572		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:132569152G>A	ENST00000265342.7	-	8	1221	c.972C>T	c.(970-972)tcC>tcT	p.S324S	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	324	Ig-like 1.					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)			GCTCGTGGCCGGAAGCATGGC	0.537													g|||	1	0.000199681	0	0	5008	,	,		19168	0.001		0	False		,,,				2504	0				p.S324S		.											.	FSTL4-91	0			c.C972T						.	A		0,4406		0,0,2203	176	156	163		972	-6.5	0.1	5		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FSTL4	NM_015082.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		324/843	132569152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23105	exon8			GTGGCCGGAAGCA	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.972C>T	5.37:g.132569152G>A		Somatic	276	1		WXS	Illumina GAIIx	Phase_I	290	133	NM_015082	0	0	10	19	9	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																			G|0.999;A|0.000		0.537	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132569152	G	A	132569152	2	1	52	1	0	0	0	0	0	0	0	1	6103	1103	39	1		1	FSTL4	5	132569152	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	419468	132569152	48346108	182	10833											
BRD8	10902	broad.mit.edu;bcgsc.ca	37	chr5	137502305	137502305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggacacagactctacaGggggtggcacaagtttaact	12	9	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:137502305G>T	ENST00000254900.5	-	10	1270	c.899C>A	c.(898-900)cCt>cAt	p.P300H	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000455658.2_Missense_Mutation_p.P259H|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000230901.5_Missense_Mutation_p.P373H|BRD8_ENST00000402931.1_Missense_Mutation_p.P300H	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	300					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGACTCTACAGGGGGTGGCAC	0.537																																					p.P373H		.											.	BRD8-91	0			c.C1118A						.						71	66	68					5																	137502305		2203	4300	6503	SO:0001583	missense	10902	exon11			TCTACAGGGGGTG	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.899C>A	5.37:g.137502305G>T	ENSP00000254900:p.Pro300His	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	266	8	NM_006696	0	0	11	13	2	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948596	0.73787	.	.	ENSG00000112983	ENST00000254900;ENST00000230901;ENST00000402931;ENST00000455658	T;T;T;T	0.55413	1.56;0.52;1.37;1.36	5.65	5.65	0.86999	.	0.053941	0.85682	D	0.000000	T	0.62221	0.2410	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.998	D;D;D;P;P	0.91635	0.999;0.998;0.998;0.739;0.879	T	0.63752	-0.6566	10	0.59425	D	0.04	-6.6426	18.891	0.92403	0.0:0.0:1.0:0.0	.	259;284;79;373;300	F8W820;B4DN43;B4DMS9;Q9H0E9-2;Q9H0E9	.;.;.;.;BRD8_HUMAN	H	300;373;300;259	ENSP00000254900:P300H;ENSP00000230901:P373H;ENSP00000384845:P300H;ENSP00000408396:P259H	ENSP00000230901:P373H	P	-	2	0	BRD8	137530204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.243000	0.58721	2.941000	0.99782	0.655000	0.94253	CCT	.		0.537	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		T	137502305	G	T	137502305	3	4	52	1	0	0	0	0	1	0	0	0	1510	1000	35	3	2944	3	BRD8	5	137502305	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4933153	137502305	43412955	183	10834											
KDM3B	51780	broad.mit.edu	37	chr5	137708468	137708468	+	Frame_Shift_Del	DEL	C	C	-													aagggtctcttgtatgggcgCcccgtgaggacccagtcctt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:137708468delC	ENST00000314358.5	+	2	498	c.298delC	c.(298-300)cccfs	p.P100fs		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	100					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTATGGGCGCCCCGTGAGGA	0.522																																					p.P100fs		.											.	KDM3B-542	0			c.298delC						.						80	76	78					5																	137708468		2203	4300	6503	SO:0001589	frameshift_variant	51780	exon2			TGGGCGCCCCGTG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.298delC	5.37:g.137708468delC	ENSP00000326563:p.Pro100fs	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	194	7	NM_016604	0	0	0	0	0	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	CCDS34242.1																																																																																			.		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		-	137708468	C	-	137708468	7	5	52	1	0	1	0	1	0	0	0	0	8154	739	26	0	304	0	KDM3B	5	137708468	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	206163	137708468	43206792	184	10835											
EGR1	1958	broad.mit.edu	37	chr5	137803250	137803250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagcccttccagtgccGcatctgcatgcgcaacttca	8	16	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:137803250G>A	ENST00000239938.4	+	2	1384	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	371					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCCAGTGCCGCATCTGCATG	0.627																																					p.R371H		.											.	EGR1-227	0			c.G1112A						.						81	82	81					5																	137803250		2203	4300	6503	SO:0001583	missense	1958	exon2			AGTGCCGCATCTG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1112G>A	5.37:g.137803250G>A	ENSP00000239938:p.Arg371His	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	237	7	NM_001964	0	0	4	4	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579309	0.65878	.	.	ENSG00000120738	ENST00000239938	T	0.52526	0.66	4.2	4.2	0.49525	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	0.51244	0.1663	N	0.11698	0.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61941	-0.6959	10	0.87932	D	0	-16.3558	15.72	0.77700	0.0:0.0:1.0:0.0	.	371	P18146	EGR1_HUMAN	H	371	ENSP00000239938:R371H	ENSP00000239938:R371H	R	+	2	0	EGR1	137831149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.177000	0.69029	0.563000	0.77884	CGC	.		0.627	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		A	137803250	G	A	137803250	3	1	52	1	0	0	0	0	1	0	0	0	4985	1087	38	1	1118	1	EGR1	5	137803250	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	94782	137803250	43112010	185	10836											
APBB3	10307	broad.mit.edu;bcgsc.ca	37	chr5	139939977	139939977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcactggaagctctgaCggcccaggtcagcgatgagg	15	12	2	2	rs553019305		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:139939977C>T	ENST00000357560.4	-	12	1588	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	APBB3_ENST00000356738.2_Missense_Mutation_p.R387H|APBB3_ENST00000508496.2_Missense_Mutation_p.R159H|APBB3_ENST00000354402.5_Missense_Mutation_p.R389H|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.R380H|APBB3_ENST00000358580.5_3'UTR|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000507279.1_5'Flank	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)			GAAGCTCTGACGGCCCAGGTC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		18428	0		0	False		,,,				2504	0				p.R389H		.											.	APBB3-92	0			c.G1166A						.						59	53	55					5																	139939977		2203	4300	6503	SO:0001583	missense	10307	exon11			CTCTGACGGCCCA	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.1145G>A	5.37:g.139939977C>T	ENSP00000350171:p.Arg382His	Somatic	337	0		WXS	Illumina GAIIx	Phase_I	430	12	NM_006051	0	0	111	117	6	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553815	0.27739	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.28	0.714	0.18180	.	0.490245	0.22961	N	0.053554	T	0.13329	0.0323	N	0.08118	0	0.32190	N	0.579184	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	9	.	.	.	-0.011	10.1254	0.42646	0.0:0.5186:0.0:0.4814	.	380;387	O95704-2;O95704-3	.;.	H	387;389;382;159;380	ENSP00000349177:R387H;ENSP00000346378:R389H;ENSP00000350171:R382H;ENSP00000444013:R159H;ENSP00000402591:R380H	.	R	-	2	0	APBB3	139920161	0.020000	0.18652	0.998000	0.56505	0.999000	0.98932	0.390000	0.20768	0.187000	0.20147	0.655000	0.94253	CGT	.		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		T	139939977	C	T	139939977	3	4	52	1	0	0	0	0	1	0	0	0	762	536	19	1	323	1	APBB3	5	139939977	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2136727	139939977	40975283	186	10837											
PCDHA2	56146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140174695	140174695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcgtgggccgcatcgCgcaggacctggggctggagc	16	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140174695C>T	ENST00000526136.1	+	1	146	c.146C>T	c.(145-147)gCg>gTg	p.A49V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A49V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A49V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.672																																					p.A49V		.											.	PCDHA2-94	0			c.C146T						.						44	53	50					5																	140174695		2201	4297	6498	SO:0001583	missense	56146	exon1			GCATCGCGCAGGA	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.146C>T	5.37:g.140174695C>T	ENSP00000431748:p.Ala49Val	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	158	78	NM_031495	0	0	3	3	0	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	19.95	3.922375	0.73213	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53423	0.62;0.62;0.62	3.79	2.83	0.33086	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.39475	U	0.001346	T	0.67988	0.2952	M	0.88842	2.985	0.32135	N	0.586282	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.65010	0.819;0.931;0.819	T	0.76110	-0.3079	10	0.87932	D	0	.	10.6045	0.45386	0.1436:0.7164:0.14:0.0	.	49;49;49	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	49	ENSP00000430584:A49V;ENSP00000367372:A49V;ENSP00000431748:A49V	ENSP00000367372:A49V	A	+	2	0	PCDHA2	140154879	0.761000	0.28439	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.119000	0.64992	0.644000	0.83932	GCG	.		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140174695	C	T	140174695	3	4	52	1	0	0	0	0	1	0	0	0	11563	768	27	1	148	1	PCDHA2	5	140174695	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	234718	140174695	40740565	187	10838											
PCDHA12	56137	broad.mit.edu;bcgsc.ca	37	chr5	140256782	140256782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggcagcgcaggaggCgcagttagcgagttggtacc	17	11	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140256782C>T	ENST00000398631.2	+	1	1725	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	575					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGGAGGCGCAGTTAGCG	0.677																																					p.G575G	Pancreas(113;759 1672 13322 24104 50104)	.											.	.	0			c.C1725T						.						188	181	183					5																	140256782		2203	4299	6502	SO:0001819	synonymous_variant	56137	exon1			AGGAGGCGCAGTT	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1725C>T	5.37:g.140256782C>T		Somatic	57	2		WXS	Illumina GAIIx	Phase_I	672	332	NM_018903	0	0	0	0	0	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			.		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140256782	C	T	140256782	2	4	52	1	0	0	0	0	0	0	0	1	11561	755	27	1		1	PCDHA12	5	140256782	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	82087	140256782	40658478	188	10839											
PCDHA13	56136	broad.mit.edu	37	chr5	140263345	140263346	+	Frame_Shift_Ins	INS	-	-	G													ctactcgctggtggagcggcINSgggtgggcgagcgtgcgctg					rs199864330		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140263345_140263346insG	ENST00000289272.2	+	1	1492_1493	c.1492_1493insG	c.(1492-1494)cggfs	p.R498fs	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Ins_p.R498fs|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGGTGGGCGAG	0.658																																					p.R498fs	Melanoma(147;1739 1852 5500 27947 37288)	.											.	PCDHA13-75	0			c.1492_1493insG						.																																			SO:0001589	frameshift_variant	56136	exon1			GAGCGGCGGGTGG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1495dupG	5.37:g.140263348_140263348dupG	ENSP00000289272:p.Arg498fs	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	513	9	NM_031865	0	0	0	0	0	O75277	Frame_Shift_Ins	INS	ENST00000289272.2	37	CCDS4240.1																																																																																			.		0.658	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		G	140263346	-	G	140263345	7	5	52	1	0	1	1	0	0	0	0	0	11562	759	27	0	1494	0	PCDHA13	5	140263345	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	6563	140263345	40651915	189	10840											
PCDHB10	56126	broad.mit.edu	37	chr5	140573347	140573347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctaattacagaaggcGcgctggacagagagatcaga	11	9	1	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140573347G>A	ENST00000239446.4	+	1	1406	c.1222G>A	c.(1222-1224)Gcg>Acg	p.A408T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAGAAGGCGCGCTGGACAG	0.463																																					p.A408T		.											.	PCDHB10-92	0			c.G1222A						.						85	85	85					5																	140573347		2203	4300	6503	SO:0001583	missense	56126	exon1			GAAGGCGCGCTGG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1222G>A	5.37:g.140573347G>A	ENSP00000239446:p.Ala408Thr	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	227	6	NM_018930	0	0	2	2	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	1.429	-0.570758	0.03910	.	.	ENSG00000120324	ENST00000239446	T	0.52754	0.65	3.23	1.31	0.21738	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43456	0.1248	M	0.65320	2	0.09310	N	1	P	0.39696	0.683	B	0.43082	0.407	T	0.26189	-1.0110	9	0.28530	T	0.3	.	4.2571	0.10722	0.099:0.1568:0.5839:0.1602	.	408	Q9UN67	PCDBA_HUMAN	T	408	ENSP00000239446:A408T	ENSP00000239446:A408T	A	+	1	0	PCDHB10	140553531	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.604000	0.02076	0.665000	0.31066	0.556000	0.70494	GCG	.		0.463	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573347	G	A	140573347	3	1	52	1	0	0	0	0	1	0	0	0	11574	1087	38	1	1224	1	PCDHB10	5	140573347	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	310002	140573347	40341913	190	10841											
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140725147	140725147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacactggcgtcctatacgCgctgagatccttcgactacg	9	14	0	1	rs544058288		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140725147C>T	ENST00000253812.6	+	1	1547	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	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	516	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)			GTCCTATACGCGCTGAGATCC	0.557																																					p.A516V		.											.	PCDHGA3-68	0			c.C1547T						.						83	93	90					5																	140725147		2173	4292	6465	SO:0001583	missense	56112	exon1			TATACGCGCTGAG	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.1547C>T	5.37:g.140725147C>T	ENSP00000253812:p.Ala516Val	Somatic	340	0		WXS	Illumina GAIIx	Phase_I	527	178	NM_032011	0	0	2	4	2	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	18.19	3.568873	0.65765	.	.	ENSG00000254245	ENST00000253812	T	0.43294	0.95	5.36	5.36	0.76844	Cadherin (5);Cadherin-like (1);	0.000000	0.33023	U	0.005370	T	0.55016	0.1894	L	0.55743	1.74	0.45822	D	0.998693	D;D	0.67145	0.996;0.985	P;P	0.54431	0.752;0.668	T	0.57969	-0.7719	10	0.87932	D	0	.	19.0569	0.93069	0.0:1.0:0.0:0.0	.	516;516	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	516	ENSP00000253812:A516V	ENSP00000253812:A516V	A	+	2	0	PCDHGA3	140705331	0.994000	0.37717	0.872000	0.34217	0.100000	0.18952	3.202000	0.51067	2.665000	0.90641	0.563000	0.77884	GCG	.		0.557	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725147	C	T	140725147	3	4	52	1	0	0	0	0	1	0	0	0	11594	768	27	1	1549	1	PCDHGA3	5	140725147	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	151800	140725147	40190113	191	10842											
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	140725295	140725295	+	Silent	SNP	C	C	T													gcgcccgagatcctgtacccCgccctccccacagacggttc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140725295C>T	ENST00000253812.6	+	1	1695	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	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	565					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)			TCCTGTACCCCGCCCTCCCCA	0.662																																					p.P565P		.											.	PCDHGA3-68	0			c.C1695T						.						113	124	120					5																	140725295		2203	4298	6501	SO:0001819	synonymous_variant	56112	exon1			GTACCCCGCCCTC	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.1695C>T	5.37:g.140725295C>T		Somatic	190	0		WXS	Illumina GAIIx	Phase_I	468	99	NM_032011	0	0	6	6	0	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.662	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725295	C	T	140725295	2	4	52	1	0	0	0	0	0	0	0	1	11594	639	23	1		1	PCDHGA3	5	140725295	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	148	140725295	40189965	192	10843	108	2									
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	140725299	140725299	+	Missense_Mutation	SNP	C	C	T													ccgagatcctgtaccccgccCtccccacagacggttccact					rs201819603	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:140725299C>T	ENST00000253812.6	+	1	1699	c.1699C>T	c.(1699-1701)Ctc>Ttc	p.L567F	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	567					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)			GTACCCCGCCCTCCCCACAGA	0.667													C|||	2	0.000399361	8e-04	0	5008	,	,		16066	0		0.001	False		,,,				2504	0				p.L567F		.											.	PCDHGA3-68	0			c.C1699T						.	C	,,PHE/LEU,PHE/LEU	0,4406		0,0,2203	110	121	117		,,1699,1699	-0.6	0	5		117	21,8575		0,21,4277	no	intron,intron,missense,missense	PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_032011.1	,,22,22	0,21,6480	TT,TC,CC		0.2443,0.0,0.1615	,,,	,,567/933,567/830	140725299	21,12981	2203	4298	6501	SO:0001583	missense	56112	exon1			CCCGCCCTCCCCA	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.1699C>T	5.37:g.140725299C>T	ENSP00000253812:p.Leu567Phe	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	454	92	NM_032011	0	0	8	8	0	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	0.167	-1.074872	0.01903	0.0	0.002443	ENSG00000254245	ENST00000253812	T	0.50813	0.73	5.3	-0.565	0.11771	Cadherin-like (1);	0.523108	0.13407	U	0.390172	T	0.35770	0.0943	L	0.50993	1.605	0.09310	N	1	B;B	0.19331	0.035;0.009	B;B	0.25291	0.059;0.019	T	0.29761	-1.0001	10	0.40728	T	0.16	.	3.3378	0.07107	0.3009:0.4438:0.0975:0.1578	.	567;567	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	F	567	ENSP00000253812:L567F	ENSP00000253812:L567F	L	+	1	0	PCDHGA3	140705483	0.000000	0.05858	0.021000	0.16686	0.001000	0.01503	-0.609000	0.05635	-0.187000	0.10516	-2.051000	0.00406	CTC	C|0.999;T|0.001		0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725299	C	T	140725299	3	4	52	1	0	0	0	0	1	0	0	0	11594	681	24	3	1701	3	PCDHGA3	5	140725299	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4	140725299	40189961	193	10844	108	2									
CYFIP2	26999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	156746911	156746911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctgcggcaggcggtaCggaagaagaagaatgtcctc	14	11	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:156746911C>T	ENST00000521420.1	+	13	1511	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	CYFIP2_ENST00000522463.1_Missense_Mutation_p.R304W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R174W|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R500W|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R500W|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R500W|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R425W					cytoplasmic FMR1 interacting protein 2									p.R500W(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGGCGGTACGGAAGAAGAA	0.562																																					p.R500W		.											.	CYFIP2-22	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C1498T						.						146	153	151					5																	156746911		2199	4300	6499	SO:0001583	missense	26999	exon14			GCGGTACGGAAGA	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1420C>T	5.37:g.156746911C>T	ENSP00000430904:p.Arg474Trp	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	210	86	NM_001037332	0	0	5	10	5		Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	C	18.54	3.646358	0.67358	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.97	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.69078	0.99;0.995;0.997;0.993;0.997;0.994	P;D;P;P;P;P	0.64321	0.834;0.924;0.85;0.724;0.812;0.826	T	0.20505	-1.0273	10	0.87932	D	0	-27.8639	14.3106	0.66413	0.5048:0.4952:0.0:0.0	.	364;304;474;500;500;500	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	W	500;304;474;500;500;425;174	ENSP00000325817:R500W;ENSP00000428009:R304W;ENSP00000430904:R474W;ENSP00000313567:R500W;ENSP00000366799:R500W;ENSP00000444645:R425W;ENSP00000403793:R174W	ENSP00000325817:R500W	R	+	1	2	CYFIP2	156679489	0.614000	0.27017	0.337000	0.25536	0.743000	0.42351	1.098000	0.31000	0.825000	0.34637	0.655000	0.94253	CGG	.		0.562	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		T	156746911	C	T	156746911	3	4	52	1	0	0	0	0	1	0	0	0	4147	527	19	1	1548	1	CYFIP2	5	156746911	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	16021612	156746911	24168349	194	10845											
LCP2	3937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	169685169	169685169	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcaaaggtctctgatgCactgtgcagaagtagaaaac	13	7	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:169685169C>T	ENST00000046794.5	-	16	1587	c.972G>A	c.(970-972)gtG>gtA	p.V324V	LCP2_ENST00000521416.1_Splice_Site_p.V119V	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	324					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GTCTCTGATGCACTGTGCAGA	0.478																																					p.V324V		.											.	LCP2-23	0			c.G972A						.						156	154	155					5																	169685169		1928	4142	6070	SO:0001630	splice_region_variant	3937	exon16			CTGATGCACTGTG		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.971-1G>A	5.37:g.169685169C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	155	18	NM_005565	0	0	0	0	0	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																			.		0.478	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	Silent	T	169685169	C	T	169685169	5	4	52	1	0	0	0	0	0	0	1	0	8720	724	25	3	653	3	LCP2	5	169685169	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	12938258	169685169	11230091	195	10846											
STC2	8614	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	172744904	172744904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccactcgctgcttccGgaaggtccctgagccccaag	9	17	1	1	rs372848810		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:172744904G>A	ENST00000265087.4	-	4	2164	c.855C>T	c.(853-855)tcC>tcT	p.S285S	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	285					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTGCTTCCGGAAGGTCCCT	0.597																																					p.S285S		.											.	STC2-93	0			c.C855T						.	G		0,4406		0,0,2203	81	86	84		855	-4	1	5		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STC2	NM_003714.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		285/303	172744904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8614	exon4			GCTTCCGGAAGGT	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.855C>T	5.37:g.172744904G>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	160	10	NM_003714	0	0	28	28	0		Silent	SNP	ENST00000265087.4	37	CCDS4388.1																																																																																			.		0.597	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		A	172744904	G	A	172744904	2	1	52	1	0	0	0	0	0	0	0	1	15323	1103	39	1		1	STC2	5	172744904	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3059735	172744904	8170356	196	10847											
KIAA1191	57179	hgsc.bcm.edu;bcgsc.ca	37	chr5	175775319	175775320	+	Frame_Shift_Del	DEL	CT	CT	-													actgggctgatgcaggctgcCtctcttcttttgttacctct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:175775319_175775320delCT	ENST00000298569.4	-	7	1032_1033	c.499_500delAG	c.(499-501)aggfs	p.R167fs	KIAA1191_ENST00000533553.1_Frame_Shift_Del_p.E23fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Del_p.R148fs|KIAA1191_ENST00000510164.1_Frame_Shift_Del_p.R167fs|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	167						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TGCAGGCTGCCTCTCTTCTTTT	0.49																																					p.167_167del		.											.	KIAA1191-91	0			c.499_500del						.																																			SO:0001589	frameshift_variant	57179	exon7			GGCTGCCTCTCTT	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.499_500delAG	5.37:g.175775323_175775324delCT	ENSP00000298569:p.Arg167fs	Somatic	117	2		WXS	Illumina GAIIx	Phase_I	155	78	NM_020444	0	0	0	0	0	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Del	DEL	ENST00000298569.4	37	CCDS4399.1																																																																																			.		0.49	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		-	175775320	CT	-	175775319	7	5	52	1	0	1	0	1	0	0	0	0	8239	681	24	0	429	0	KIAA1191	5	175775319	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LJ-01A-11D-A29I-10	3030415	175775319	5139941	197	10848											
RNF44	22838	broad.mit.edu;bcgsc.ca	37	chr5	175959061	175959061	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctgggtgcagcattcGggggctcccgccggcaggag	20	11	0	0	rs557309360		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:175959061G>A	ENST00000274811.4	-	3	765	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RNF44_ENST00000509404.1_5'Flank|RNF44_ENST00000537487.1_5'UTR	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	81	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGCATTCGGGGGCTCCCG	0.697													G|||	1	0.000199681	0	0	5008	,	,		12248	0		0	False		,,,				2504	0.001				p.R81X		.											.	RNF44-658	0			c.C241T						.						22	31	28					5																	175959061		2199	4298	6497	SO:0001587	stop_gained	22838	exon3			GCATTCGGGGGCT	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"RING-type (C3HC4) zinc fingers"	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.241C>T	5.37:g.175959061G>A	ENSP00000274811:p.Arg81*	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	225	10	NM_014901	0	0	32	34	2	B4DYE0|Q8ND05|Q9UPQ2	Nonsense_Mutation	SNP	ENST00000274811.4	37	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	G	40	8.344587	0.98769	.	.	ENSG00000146083	ENST00000274811	.	.	.	3.77	2.89	0.33648	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9921	11.474	0.50286	0.089:0.0:0.9109:0.0	.	.	.	.	X	81	.	ENSP00000274811:R81X	R	-	1	2	RNF44	175891667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.197000	0.94985	0.937000	0.37394	0.561000	0.74099	CGA	.		0.697	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			A	175959061	G	A	175959061	4	1	52	1	0	0	0	0	0	1	0	0	13541	1124	39	1	1093	1	RNF44	5	175959061	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	183742	175959061	4956199	198	10849											
PROP1	5626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	177420005	177420005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggctgaagcagtgagCgctcttgcttccgttgctta	12	11	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:177420005C>T	ENST00000308304.2	-	3	694	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	129					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAGTGAGCGCTCTTGCTT	0.567																																					p.R129H		.											.	PROP1-90	0			c.G386A						.						148	135	139					5																	177420005		2203	4300	6503	SO:0001583	missense	5626	exon3			AGTGAGCGCTCTT	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.386G>A	5.37:g.177420005C>T	ENSP00000311290:p.Arg129His	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	141	49	NM_006261	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308304.2	37	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	16.63	3.177496	0.57692	.	.	ENSG00000175325	ENST00000308304	D	0.95885	-3.84	3.22	3.22	0.36961	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.38005	N	0.001842	D	0.94295	0.8167	L	0.32530	0.975	0.34067	D	0.657929	D	0.89917	1.0	D	0.63192	0.912	D	0.94555	0.7757	10	0.72032	D	0.01	-17.2775	6.4353	0.21819	0.0:0.8612:0.0:0.1388	.	129	O75360	PROP1_HUMAN	H	129	ENSP00000311290:R129H	ENSP00000311290:R129H	R	-	2	0	PROP1	177352611	0.990000	0.36364	0.987000	0.45799	0.548000	0.35241	3.960000	0.56752	1.830000	0.53286	0.467000	0.42956	CGC	.		0.567	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		T	177420005	C	T	177420005	3	4	52	1	0	0	0	0	1	0	0	0	12599	768	27	1	298	1	PROP1	5	177420005	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1460944	177420005	3495255	199	10850											
ADAMTS2	9509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178567010	178567010	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggatgtcaggtgtcagCcagatgcagtgtcctttaaa	12	7	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:178567010C>T	ENST00000251582.7	-	11	1757	c.1656G>A	c.(1654-1656)tgG>tgA	p.W552*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	552	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGTGTCAGCCAGATGCAGT	0.607																																					p.W552X		.											.	ADAMTS2-228	0			c.G1656A						.						159	167	164					5																	178567010		2203	4300	6503	SO:0001587	stop_gained	9509	exon11			TGTCAGCCAGATG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1656G>A	5.37:g.178567010C>T	ENSP00000251582:p.Trp552*	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	281	147	NM_014244	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.522044	0.98335	.	.	ENSG00000087116	ENST00000251582	.	.	.	4.92	4.92	0.64577	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.1242	0.86710	0.0:1.0:0.0:0.0	.	.	.	.	X	552	.	ENSP00000251582:W552X	W	-	3	0	ADAMTS2	178499616	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.338000	0.79269	2.281000	0.76405	0.561000	0.74099	TGG	.		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178567010	C	T	178567010	4	4	52	1	0	0	0	0	0	1	0	0	265	740	26	3	2027	3	ADAMTS2	5	178567010	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1147005	178567010	2348250	200	10851											
TRIM41	90933	hgsc.bcm.edu;bcgsc.ca	37	chr5	180651181	180651182	+	In_Frame_Ins	INS	-	-	GGA													gacagagatgagttagatcgINSggaggaggaggaggaggacg					rs539435490	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr5:180651181_180651182insGGA	ENST00000315073.5	+	1	892_893	c.182_183insGGA	c.(181-186)cgggag>cgGGAggag	p.66_67insE	TRIM41_ENST00000351937.5_In_Frame_Ins_p.66_67insE|MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	66	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTTAGATCGggaggaggagg	0.629																																					p.R61delinsRE		.											.	TRIM41-226	0			c.182_183insGGA						.																																			SO:0001652	inframe_insertion	90933	exon1			TAGATCGGGAGGA	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.198_200dupGGA	5.37:g.180651188_180651190dupGGA	ENSP00000320869:p.Glu66_Glu66dup	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	208	54	NM_033549	0	0	0	0	0	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	In_Frame_Ins	INS	ENST00000315073.5	37	CCDS4466.1																																																																																			.		0.629	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		GGA	180651182	-	GGA	180651181	7	5	52	1	0	1	1	0	0	0	0	0	16564	1116	39	0	184	0	TRIM41	5	180651181	In_Frame_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	2084171	180651181	264079	201	10852											
RIOK1	83732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	7393387	7393387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacattctgtttgaagacCttcaagacaatgtgaatgag	9	6	2	6			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:7393387C>T	ENST00000379834.2	+	2	634	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	43							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTTTGAAGACCTTCAAGACAA	0.373																																					p.L43F		.											.	RIOK1-336	0			c.C127T						.						147	130	136					6																	7393387		2203	4300	6503	SO:0001583	missense	83732	exon2			GAAGACCTTCAAG	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.127C>T	6.37:g.7393387C>T	ENSP00000369162:p.Leu43Phe	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	84	69	NM_031480	0	0	0	6	6	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734983	0.30774	.	.	ENSG00000124784	ENST00000379834	T	0.05996	3.36	4.85	-1.28	0.09318	.	1.618570	0.03750	N	0.256361	T	0.01765	0.0056	L	0.39633	1.23	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47699	-0.9097	10	0.17369	T	0.5	-1.2478	9.6137	0.39679	0.0:0.5062:0.0:0.4938	.	43	Q9BRS2	RIOK1_HUMAN	F	43	ENSP00000369162:L43F	ENSP00000369162:L43F	L	+	1	0	RIOK1	7338386	0.000000	0.05858	0.003000	0.11579	0.533000	0.34776	-0.152000	0.10159	-0.254000	0.09500	0.655000	0.94253	CTT	.		0.373	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		T	7393387	C	T	7393387	3	4	52	1	0	0	0	0	1	0	0	0	13422	681	24	3	133	3	RIOK1	6	7393387	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		7393387	163721680	202	10853											
NEDD9	4739	broad.mit.edu	37	chr6	11192636	11192636	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatctctcccactggaactGaaaacacagggccttttgct	7	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:11192636G>A	ENST00000379446.5	-	4	771	c.605C>T	c.(604-606)tCa>tTa	p.S202L	NEDD9_ENST00000504387.1_Missense_Mutation_p.S202L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	202	Interacts strongly with spindle- regulatory protein D1M1.				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)			CACTGGAACTGAAAACACAGG	0.458																																					p.S202L		.											.	NEDD9-226	0			c.C605T						.						110	99	103					6																	11192636		2203	4300	6503	SO:0001583	missense	4739	exon5			GGAACTGAAAACA	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.605C>T	6.37:g.11192636G>A	ENSP00000368759:p.Ser202Leu	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	105	4	NM_001142393	0	0	2	2	0	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496051	0.64186	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.42131	0.98;1.12	5.64	5.64	0.86602	.	0.720818	0.13347	N	0.394735	T	0.32010	0.0815	M	0.65975	2.015	0.80722	D	1	B;B;B	0.30763	0.294;0.026;0.22	B;B;B	0.35182	0.197;0.008;0.054	T	0.05566	-1.0877	10	0.31617	T	0.26	-9.2845	12.5736	0.56352	0.0763:0.0:0.9237:0.0	.	202;202;202	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	L	202	ENSP00000368759:S202L;ENSP00000422871:S202L	ENSP00000368759:S202L	S	-	2	0	NEDD9	11300622	0.998000	0.40836	0.877000	0.34402	0.975000	0.68041	4.355000	0.59424	2.820000	0.97059	0.650000	0.86243	TCA	.		0.458	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		A	11192636	G	A	11192636	3	1	52	1	0	0	0	0	1	0	0	0	10352	1294	45	3	1915	3	NEDD9	6	11192636	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3799249	11192636	159922431	203	10854											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	12162023	12162023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggaaggccaggcagcGtgctgcgagagatgaaaacg	17	9	0	2	rs539555538		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:12162023G>A	ENST00000379388.2	+	8	7171	c.6839G>A	c.(6838-6840)cGt>cAt	p.R2280H	HIVEP1_ENST00000541134.1_Missense_Mutation_p.R145H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2280					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCAGGCAGCGTGCTGCGAGA	0.542													G|||	1	0.000199681	0	0	5008	,	,		19043	0		0	False		,,,				2504	0.001				p.R2280H		.											.	HIVEP1-139	0			c.G6839A						.						89	92	91					6																	12162023		2118	4253	6371	SO:0001583	missense	3096	exon8			GGCAGCGTGCTGC	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6839G>A	6.37:g.12162023G>A	ENSP00000368698:p.Arg2280His	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	121	92	NM_002114	0	0	0	18	18	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121930	0.37436	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.29917	3.05;1.55	5.77	-7.49	0.01355	.	2.735890	0.01498	N	0.017393	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.15292	-1.0442	10	0.13108	T	0.6	3.6284	3.9224	0.09250	0.3028:0.094:0.4235:0.1796	.	2280	P15822	ZEP1_HUMAN	H	2280;207;145;262	ENSP00000368698:R2280H;ENSP00000445617:R145H	ENSP00000368698:R2280H	R	+	2	0	HIVEP1	12270009	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.904000	0.04080	-1.195000	0.02680	-0.136000	0.14681	CGT	.		0.542	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12162023	G	A	12162023	3	1	52	1	0	0	0	0	1	0	0	0	7213	1145	40	1	6865	1	HIVEP1	6	12162023	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	969387	12162023	158953044	204	10855											
MYLIP	29116	broad.mit.edu	37	chr6	16145408	16145408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagggcctcagctgccagCagacccgggtgctgcaggag	17	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:16145408C>T	ENST00000356840.3	+	6	1306	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	MYLIP_ENST00000349606.4_Nonsense_Mutation_p.Q189*	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	370					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CAGCTGCCAGCAGACCCGGGT	0.582																																					p.Q370X		.											.	MYLIP-91	0			c.C1108T						.						72	74	73					6																	16145408		2203	4300	6503	SO:0001587	stop_gained	29116	exon6			TGCCAGCAGACCC	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1108C>T	6.37:g.16145408C>T	ENSP00000349298:p.Gln370*	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	174	5	NM_013262	0	0	2	2	0	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Nonsense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	41	8.585200	0.98875	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.87	5.87	0.94306	.	0.148479	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	370;189	.	ENSP00000008686:Q189X	Q	+	1	0	MYLIP	16253387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.275000	0.58927	2.941000	0.99782	0.655000	0.94253	CAG	.		0.582	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		T	16145408	C	T	16145408	4	4	52	1	0	0	0	0	0	1	0	0	10093	711	25	3	1130	3	MYLIP	6	16145408	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3983385	16145408	154969659	205	10856											
ATXN1	6310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	16306908	16306908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgctggcgggatccacGggctggccctttttaacaga	14	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:16306908G>A	ENST00000244769.4	-	9	3036	c.2100C>T	c.(2098-2100)ccC>ccT	p.P700P	ATXN1_ENST00000436367.1_Silent_p.P700P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	700	Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGGATCCACGGGCTGGCCCT	0.567																																					p.P700P		.											.	ATXN1-93	0			c.C2100T						.						54	55	55					6																	16306908		2203	4300	6503	SO:0001819	synonymous_variant	6310	exon8			ATCCACGGGCTGG	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2100C>T	6.37:g.16306908G>A		Somatic	144	1		WXS	Illumina GAIIx	Phase_I	97	81	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.567	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16306908	G	A	16306908	2	1	52	1	0	0	0	0	0	0	0	1	1210	1103	39	1		1	ATXN1	6	16306908	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	161500	16306908	154808159	206	10857											
ATXN1	6310	hgsc.bcm.edu	37	chr6	16327924	16327924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgctgatgctgctgCtgctgctgctgctgctgctg	14	11	0	2	rs544512597	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:16327924C>A	ENST00000244769.4	-	8	1554	c.618G>T	c.(616-618)caG>caT	p.Q206H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q206H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	206	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgctgctgctgctgct	0.662													c|||	7	0.00139776	0.0038	0.0014	5008	,	,		13096	0.001		0	False		,,,				2504	0				p.Q206H		.											.	ATXN1-93	0			c.G618T						.																																			SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.618G>T	6.37:g.16327924C>A	ENSP00000244769:p.Gln206His	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_001128164	0	0	2	2	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	5.966	0.362195	0.11296	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.46063	0.88;0.88	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P	0.51240	0.943	P	0.55667	0.781	T	0.06338	-1.0832	8	0.56958	D	0.05	.	.	.	.	.	206	P54253	ATX1_HUMAN	H	206	ENSP00000244769:Q206H;ENSP00000416360:Q206H	ENSP00000244769:Q206H	Q	-	3	2	ATXN1	16435903	0.113000	0.22115	0.026000	0.17262	0.107000	0.19398	0.000000	0.12993	0.132000	0.18615	0.134000	0.15878	CAG	.		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327924	C	A	16327924	3	1	52	1	0	0	0	0	1	0	0	0	1210	796	28	3	1837	3	ATXN1	6	16327924	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	21016	16327924	154787143	207	10858											
PRL	5617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	22294740	22294740	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggcatcgggcagccccGccgggacagatgggcaaggg	17	13	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:22294740G>T	ENST00000306482.1	-	2	620	c.102C>A	c.(100-102)ggC>ggA	p.G34G	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	34					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGGCAGCCCCGCCGGGACAGA	0.602																																					p.G34G		.											.	PRL-90	0			c.C102A						.						43	41	42					6																	22294740		2203	4300	6503	SO:0001819	synonymous_variant	5617	exon3			AGCCCCGCCGGGA	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.102C>A	6.37:g.22294740G>T		Somatic	314	0		WXS	Illumina GAIIx	Phase_I	238	72	NM_001163558	0	0	0	0	0	Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	CCDS4548.1																																																																																			.		0.602	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		T	22294740	G	T	22294740	2	4	52	1	0	0	0	0	0	0	0	1	12570	1074	38	2		2	PRL	6	22294740	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5966816	22294740	148820327	208	10859											
HFE	3077	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26093089	26093089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaatggggatgggacctacCagggctggataaccttggct	14	10	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:26093089C>A	ENST00000357618.5	+	4	915	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	HFE_ENST00000336625.8_Missense_Mutation_p.Q159K|HFE_ENST00000349999.4_Missense_Mutation_p.Q177K|HFE_ENST00000317896.7_Missense_Mutation_p.Q173K|HFE_ENST00000309234.6_Missense_Mutation_p.Q265K|HFE_ENST00000461397.1_Missense_Mutation_p.Q251K|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Missense_Mutation_p.Q163K|HFE_ENST00000397022.3_Missense_Mutation_p.Q242K|HFE_ENST00000353147.5_Missense_Mutation_p.Q85K|HFE_ENST00000470149.1_Missense_Mutation_p.Q262K	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	265	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGACCTACCAGGGCTGGAT	0.562									Hemochromatosis																												p.Q265K		.											.	HFE-90	0			c.C793A						.						110	108	109					6																	26093089		2203	4300	6503	SO:0001583	missense	3077	exon4	Familial Cancer Database		ACCTACCAGGGCT		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.793C>A	6.37:g.26093089C>A	ENSP00000417404:p.Gln265Lys	Somatic	439	2		WXS	Illumina GAIIx	Phase_I	286	74	NM_000410	0	0	1	1	0	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482829	0.84747	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000488199;ENST00000309234	T;T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.464466	0.20305	N	0.094943	T	0.45418	0.1341	M	0.92412	3.305	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.975;0.99;0.99;1.0;1.0;1.0;1.0	T	0.52983	-0.8502	10	0.87932	D	0	.	14.7506	0.69522	0.0:1.0:0.0:0.0	.	262;85;163;173;159;251;177;242;265	Q6B0J5;Q30201-6;Q30201-4;Q30201-7;Q30201-10;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;.;.;.;HFE_HUMAN	K	177;242;173;85;265;262;159;251;163;265	ENSP00000259699:Q177K;ENSP00000380217:Q242K;ENSP00000313776:Q173K;ENSP00000312342:Q85K;ENSP00000417404:Q265K;ENSP00000419725:Q262K;ENSP00000337819:Q159K;ENSP00000420802:Q251K;ENSP00000420559:Q163K;ENSP00000311698:Q265K	ENSP00000311698:Q265K	Q	+	1	0	HFE	26201068	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	3.209000	0.51122	2.941000	0.99782	0.655000	0.94253	CAG	.		0.562	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			A	26093089	C	A	26093089	3	1	52	1	0	0	0	0	1	0	0	0	7108	595	21	3	807	3	HFE	6	26093089	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3798349	26093089	145021978	209	10860											
BTN2A2	10385	hgsc.bcm.edu;bcgsc.ca	37	chr6	26384116	26384118	+	In_Frame_Del	DEL	CTT	CTT	-													tcctcctcctgctcctcctcCttctcagcctgtgtgcactg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:26384116_26384118delCTT	ENST00000356709.4	+	2	178_180	c.67_69delCTT	c.(67-69)cttdel	p.L24del	BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					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						gctcctcctccttctcAGCCTGT	0.576																																					p.23_23del		.											.	BTN2A2-90	0			c.67_69del						.																																			SO:0001651	inframe_deletion	10385	exon2			CTCCTCCTTCTCA	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.67_69delCTT	6.37:g.26384116_26384118delCTT	ENSP00000349143:p.Leu24del	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	114	95	NM_181531	0	0	0	0	0	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	CCDS4606.1																																																																																			.		0.576	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			-	26384118	CTT	-	26384116	7	5	52	1	0	1	0	1	0	0	0	0	1565	681	24	0	69	0	BTN2A2	6	26384116	In_Frame_Del	DEL	CTT	TCGA-OR-A5LJ-01A-11D-A29I-10	291027	26384116	144730951	210	10861											
BAT3	7917	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	31615616	31615617	+	Frame_Shift_Del	DEL	GA	GA	-													cctcgacactgaaggtagggGagagtcaggataccaaaggc					rs533016581		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:31615616_31615617delGA	ENST00000375964.6	-	7	870_871	c.557_558delTC	c.(556-558)ctcfs	p.L186fs	BAG6_ENST00000211379.5_Intron|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Intron|BAG6_ENST00000404765.2_Intron	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	186					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GAAGGTAGGGGAGAGTCAGGAT	0.579																																					p.186_186del		.											.	BAG6-154	0			c.557_558del						.																																			SO:0001589	frameshift_variant	7917	exon7			GTAGGGGAGAGTC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.557_558delTC	6.37:g.31615618_31615619delGA	ENSP00000365131:p.Leu186fs	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_004639	0	0	0	0	0	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Del	DEL	ENST00000375964.6	37	CCDS47403.1																																																																																			.		0.579	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		-	31615617	GA	-	31615616	7	5	52	1	0	1	0	1	0	0	0	0	1323	1161	41	0	2916	0	BAT3	6	31615616	Frame_Shift_Del	DEL	GA	TCGA-OR-A5LJ-01A-11D-A29I-10	5231500	31615616	139499451	211	10862											
VARS	7407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31747038	31747038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccgccgatgccagggcGcccgtggcctcatccgccac	12	19	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:31747038G>A	ENST00000375663.3	-	29	3872	c.3432C>T	c.(3430-3432)ggC>ggT	p.G1144G	VWA7_ENST00000375686.3_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000467576.1_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1144					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ATGCCAGGGCGCCCGTGGCCT	0.682																																					p.G1144G		.											.	VARS-93	0			c.C3432T						.						11	14	13					6																	31747038		1501	2691	4192	SO:0001819	synonymous_variant	7407	exon29			CAGGGCGCCCGTG	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.3432C>T	6.37:g.31747038G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	65	59	NM_006295	4	0	8	94	82	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.682	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31747038	G	A	31747038	2	1	52	1	0	0	0	0	0	0	0	1	17172	1074	38	1		1	VARS	6	31747038	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	131422	31747038	139368029	212	10863											
EHMT2	10919	ucsc.edu;bcgsc.ca	37	chr6	31860337	31860337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagaacctaactcctcTgactagaaaaagatcagaaa	8	10	2	5	rs535586	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:31860337T>C	ENST00000375537.4	-	7	717	c.711A>G	c.(709-711)tcA>tcG	p.S237S	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Silent_p.S294S|EHMT2_ENST00000375528.4_Silent_p.S294S|EHMT2_ENST00000375530.4_Silent_p.S237S	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	237					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						CTAACTCCTCTGACTAGAAAA	0.577													C|||	4173	0.833267	0.9191	0.9049	5008	,	,		17794	0.7798		0.7217	False		,,,				2504	0.8364				p.S237S		.											.	EHMT2-91	0			c.A711G						.	C	,	2657,365		1172,313,26	40	43	42		711,711	-9.2	0.3	6	dbSNP_83	42	3657,1761		1230,1197,282	no	coding-synonymous,coding-synonymous	EHMT2	NM_006709.3,NM_025256.5	,	2402,1510,308	CC,CT,TT		32.5028,12.0781,25.1896	,	237/1211,237/1177	31860337	6314,2126	1511	2709	4220	SO:0001819	synonymous_variant	10919	exon7			CTCCTCTGACTAG	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.711A>G	6.37:g.31860337T>C		Somatic	95	1		WXS	Illumina GAIIx	Phase_I	62	7	NM_025256	0	0	0	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	CCDS4725.1																																																																																			T|0.179;G|0.170		0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		C	31860337	T	C	31860337	2	2	52	1	0	0	0	0	0	0	0	1	4998	1567	55	4		4	EHMT2	6	31860337	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	113299	31860337	139254730	213	10864											
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	32037421	32037421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggcagggtccaggccCggcacgctgacctccctgag	15	15	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:32037421C>T	ENST00000375244.3	-	15	5697	c.5496G>A	c.(5494-5496)ccG>ccA	p.P1832P	TNXB_ENST00000375247.2_Silent_p.P1832P			P22105	TENX_HUMAN	tenascin XB	1914	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCCAGGCCCGGCACGCTGA	0.657																																					p.P1832P		.											.	TNXB-90	0			c.G5496A						.						23	28	26					6																	32037421		2171	4278	6449	SO:0001819	synonymous_variant	7148	exon15			CAGGCCCGGCACG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5496G>A	6.37:g.32037421C>T		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	85	7	NM_019105	0	0	0	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				.		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32037421	C	T	32037421	2	4	52	1	0	0	0	0	0	0	0	1	16393	639	23	1		1	TNXB	6	32037421	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	177084	32037421	139077646	214	10865											
ZBTB9	221504	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	33423520	33423522	+	In_Frame_Del	DEL	GAG	GAG	-													aaattcaggtggaagaagaaGaggaggaggaggaagatgat							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	GAG	GAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:33423520_33423522delGAG	ENST00000395064.2	+	2	911_913	c.643_645delGAG	c.(643-645)gagdel	p.E219del		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ggaagaagaagaggaggaggagg	0.552																																					p.215_215del		.											.	ZBTB9-90	0			c.643_645del						.			7,4257		3,1,2128						-6.9	0.2			61	12,8242		6,0,4121	no	coding	ZBTB9	NM_152735.3		9,1,6249	A1A1,A1R,RR		0.1454,0.1642,0.1518				19,12499				SO:0001651	inframe_deletion	221504	exon2			GAAGAAGAGGAGG	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.643_645delGAG	6.37:g.33423529_33423531delGAG	ENSP00000378503:p.Glu219del	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	61	16	NM_152735	0	0	0	0	0	A2AB19	In_Frame_Del	DEL	ENST00000395064.2	37	CCDS4780.1																																																																																			.		0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		-	33423522	GAG	-	33423520	7	5	52	1	0	1	0	1	0	0	0	0	17606	943	33	0	645	0	ZBTB9	6	33423520	In_Frame_Del	DEL	GAG	TCGA-OR-A5LJ-01A-11D-A29I-10	1386099	33423520	137691547	215	10866											
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33638975	33638975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacaatctcatctacttcGgcttctacagcttcagcgag	7	14	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:33638975G>A	ENST00000374316.5	+	22	3680	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ITPR3_ENST00000605930.1_Missense_Mutation_p.G874S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	874					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)	CATCTACTTCGGCTTCTACAG	0.672																																					p.G874S		.											.	ITPR3-1085	0			c.G2620A						.						76	78	78					6																	33638975		2203	4300	6503	SO:0001583	missense	3710	exon21			TACTTCGGCTTCT	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.2620G>A	6.37:g.33638975G>A	ENSP00000363435:p.Gly874Ser	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	152	35	NM_002224	0	0	0	1	1	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	37	6.082173	0.97267	.	.	ENSG00000096433	ENST00000374316	D	0.95622	-3.76	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98530	1.0627	10	0.87932	D	0	-36.5516	18.6165	0.91304	0.0:0.0:1.0:0.0	.	874	Q14573	ITPR3_HUMAN	S	874	ENSP00000363435:G874S	ENSP00000363435:G874S	G	+	1	0	ITPR3	33746953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.537000	0.82033	2.380000	0.81148	0.655000	0.94253	GGC	.		0.672	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33638975	G	A	33638975	3	1	52	1	0	0	0	0	1	0	0	0	7949	1116	39	1	2702	1	ITPR3	6	33638975	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	215455	33638975	137476092	216	10867											
BRPF3	27154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	36179103	36179103	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagctgaaggagctgctgGagaaactggacctggtgagc	16	8	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:36179103G>T	ENST00000357641.6	+	7	2501	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*	BRPF3_ENST00000534400.1_Nonsense_Mutation_p.E750*|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	750					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAGCTGCTGGAGAAACTGGA	0.642																																					p.E750X		.											.	BRPF3-92	0			c.G2248T						.						48	49	49					6																	36179103		2203	4300	6503	SO:0001587	stop_gained	27154	exon7			CTGCTGGAGAAAC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2248G>T	6.37:g.36179103G>T	ENSP00000350267:p.Glu750*	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	51	47	NM_015695	0	0	0	3	3	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Nonsense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	43	9.879270	0.99286	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	.	.	.	5.74	5.74	0.90152	.	0.055310	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.9141	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	750;750;164	.	ENSP00000350267:E750X	E	+	1	0	BRPF3	36287081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.802000	0.99131	2.698000	0.92095	0.655000	0.94253	GAG	.		0.642	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		T	36179103	G	T	36179103	4	4	52	1	0	0	0	0	0	1	0	0	1525	1175	41	3	2270	3	BRPF3	6	36179103	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2540128	36179103	134935964	217	10868											
LRFN2	57497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	40400435	40400435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcaaaagcctcatctgCgatgccgcccagctggttgt	10	14	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:40400435C>T	ENST00000338305.6	-	2	960	c.418G>A	c.(418-420)Gca>Aca	p.A140T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	140						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTCATCTGCGATGCCGCCC	0.592																																					p.A140T		.											.	LRFN2-93	0			c.G418A						.						65	60	62					6																	40400435		2203	4300	6503	SO:0001583	missense	57497	exon2			CATCTGCGATGCC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.418G>A	6.37:g.40400435C>T	ENSP00000345985:p.Ala140Thr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	68	56	NM_020737	0	0	0	0	0	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681696	0.29872	.	.	ENSG00000156564	ENST00000338305	T	0.02395	4.31	5.76	4.84	0.62591	.	0.210371	0.50627	D	0.000106	T	0.01156	0.0038	N	0.16066	0.365	0.39632	D	0.970198	P	0.38020	0.615	B	0.40199	0.322	T	0.69053	-0.5247	10	0.27082	T	0.32	.	13.3505	0.60599	0.2253:0.7747:0.0:0.0	.	140	Q9ULH4	LRFN2_HUMAN	T	140	ENSP00000345985:A140T	ENSP00000345985:A140T	A	-	1	0	LRFN2	40508413	1.000000	0.71417	0.761000	0.31378	0.334000	0.28698	4.444000	0.60001	2.736000	0.93811	0.655000	0.94253	GCA	.		0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40400435	C	T	40400435	3	4	52	1	0	0	0	0	1	0	0	0	8973	768	27	1	1959	1	LRFN2	6	40400435	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4221332	40400435	130714632	218	10869											
UBR2	23304	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42627467	42627467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaacaaagacaattcGttacatgtatattgtgtcaa	6	7	1	2	rs147922807	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:42627467G>A	ENST00000372899.1	+	30	3574	c.3316G>A	c.(3316-3318)Gtt>Att	p.V1106I	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.V1106I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1106					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)			AAGACAATTCGTTACATGTAT	0.408													G|||	4	0.000798722	0.003	0	5008	,	,		17162	0		0	False		,,,				2504	0				p.V1106I		.											.	UBR2-94	0			c.G3316A						.	G	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	96	89	92		3316	4.7	1	6	dbSNP_134	92	0,8600		0,0,4300	yes	missense	UBR2	NM_015255.2	29	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	1106/1756	42627467	7,12999	2203	4300	6503	SO:0001583	missense	23304	exon30			CAATTCGTTACAT	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.3316G>A	6.37:g.42627467G>A	ENSP00000361990:p.Val1106Ile	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	110	88	NM_015255	0	0	0	13	13	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.61	3.432657	0.62844	0.001589	0.0	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49139	0.79;0.79	5.56	4.66	0.58398	.	0.117017	0.56097	N	0.000022	T	0.21962	0.0529	L	0.39898	1.24	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.10450	0.005;0.002	T	0.06232	-1.0838	10	0.22706	T	0.39	-11.1937	13.4134	0.60956	0.0783:0.0:0.9217:0.0	.	1106;1106	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	I	1106	ENSP00000361990:V1106I;ENSP00000361992:V1106I	ENSP00000361990:V1106I	V	+	1	0	UBR2	42735445	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	6.451000	0.73481	1.296000	0.44742	0.462000	0.41574	GTT	G|0.999;A|0.001		0.408	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42627467	G	A	42627467	3	1	52	1	0	0	0	0	1	0	0	0	16951	1145	40	1	3580	1	UBR2	6	42627467	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2227032	42627467	128487600	219	10870											
C6orf153	88745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42992729	42992729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccacttccacaggcacatCtaacatgtcatttgaggagc	7	14	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:42992729C>T	ENST00000244496.5	+	2	147	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	46					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ACAGGCACATCTAACATGTCA	0.463																																					p.S46F		.											.	RRP36-90	0			c.C137T						.						96	80	86					6																	42992729		2203	4300	6503	SO:0001583	missense	88745	exon2			GCACATCTAACAT	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.137C>T	6.37:g.42992729C>T	ENSP00000244496:p.Ser46Phe	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	71	26	NM_033112	0	0	0	0	0	Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608001	0.87258	.	.	ENSG00000124541	ENST00000244496	T	0.49432	0.78	4.62	4.62	0.57501	.	0.246246	0.34223	N	0.004159	T	0.29945	0.0749	N	0.19112	0.55	0.20638	N	0.999873	D	0.54397	0.966	P	0.50440	0.641	T	0.14504	-1.0470	10	0.72032	D	0.01	.	14.6557	0.68831	0.0:1.0:0.0:0.0	.	46	Q96EU6	RRP36_HUMAN	F	46	ENSP00000244496:S46F	ENSP00000244496:S46F	S	+	2	0	RRP36	43100707	0.158000	0.22850	0.024000	0.17045	0.689000	0.40095	3.519000	0.53458	2.575000	0.86900	0.561000	0.74099	TCT	.		0.463	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		T	42992729	C	T	42992729	3	4	52	1	0	0	0	0	1	0	0	0	2345	913	32	3	143	3	C6orf153	6	42992729	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	365262	42992729	128122338	220	10871											
TTBK1	84630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43230559	43230559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctggctcgccctcgcGccaggcctgctcctctcagc	10	20	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:43230559G>A	ENST00000259750.4	+	13	1540	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	TTBK1_ENST00000304139.5_Missense_Mutation_p.R435H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	486					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)			TCGCCCTCGCGCCAGGCCTGC	0.677																																					p.R486H		.											.	TTBK1-353	0			c.G1457A						.						17	16	16					6																	43230559		2197	4292	6489	SO:0001583	missense	84630	exon13			CCTCGCGCCAGGC	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.1457G>A	6.37:g.43230559G>A	ENSP00000259750:p.Arg486His	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	112	26	NM_032538	0	0	0	0	0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741348	0.69304	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.55052	0.54	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	L	0.51422	1.61	0.45477	D	0.998441	D;D	0.76494	0.999;0.993	D;P	0.80764	0.994;0.72	T	0.59653	-0.7414	10	0.46703	T	0.11	.	15.9195	0.79552	0.0:0.0:1.0:0.0	.	9;486	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	H	435;486;435	ENSP00000259750:R486H	ENSP00000259750:R486H	R	+	2	0	TTBK1	43338537	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	9.085000	0.94083	2.502000	0.84385	0.436000	0.28706	CGC	.		0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			A	43230559	G	A	43230559	3	1	52	1	0	0	0	0	1	0	0	0	16725	1087	38	1	1503	1	TTBK1	6	43230559	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	237830	43230559	127884508	221	10872											
ABCC10	89845	broad.mit.edu;bcgsc.ca	37	chr6	43415084	43415084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccatgctggtgagcGtcgagcggctggaagagtac	17	9	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:43415084G>A	ENST00000372530.4	+	17	3858	c.3643G>A	c.(3643-3645)Gtc>Atc	p.V1215I	ABCC10_ENST00000244533.3_Missense_Mutation_p.V1187I	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1215					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTGGTGAGCGTCGAGCGGCT	0.652																																					p.V1215I		.											.	ABCC10-96	0			c.G3643A						.						69	67	68					6																	43415084		2203	4300	6503	SO:0001583	missense	89845	exon17			GTGAGCGTCGAGC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3643G>A	6.37:g.43415084G>A	ENSP00000361608:p.Val1215Ile	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	59	4	NM_001198934	0	0	13	13	0	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356221	0.82243	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.93488	-3.23;-3.23	5.22	4.36	0.52297	ABC transporter, transmembrane domain, type 1 (1);	0.450147	0.20891	N	0.083838	D	0.89719	0.6796	L	0.53249	1.67	0.58432	D	0.999996	D;P	0.55385	0.971;0.92	P;B	0.46389	0.515;0.15	D	0.89114	0.3498	10	0.51188	T	0.08	-32.3089	13.6235	0.62150	0.0747:0.0:0.9253:0.0	.	1187;1215	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	I	1215;1187	ENSP00000361608:V1215I;ENSP00000244533:V1187I	ENSP00000244533:V1187I	V	+	1	0	ABCC10	43523062	1.000000	0.71417	0.986000	0.45419	0.934000	0.57294	7.979000	0.88103	1.198000	0.43158	0.591000	0.81541	GTC	.		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43415084	G	A	43415084	3	1	52	1	0	0	0	0	1	0	0	0	50	1145	40	1	3617	1	ABCC10	6	43415084	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	184525	43415084	127699983	222	10873											
CAPN11	11131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	44144037	44144037	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgattcgggtccggaatccCtggggccggattgagtggaa	16	9	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:44144037C>A	ENST00000398776.1	+	9	1001	c.963C>A	c.(961-963)ccC>ccA	p.P321P	CAPN11_ENST00000542245.1_Silent_p.P321P	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	321	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCGGAATCCCTGGGGCCGGA	0.597																																					p.P321P		.											.	CAPN11-136	0			c.C963A						.						80	84	83					6																	44144037		1940	4132	6072	SO:0001819	synonymous_variant	11131	exon9			GAATCCCTGGGGC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.963C>A	6.37:g.44144037C>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	125	32	NM_007058	0	0	0	0	0	B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	CCDS47436.1																																																																																			.		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44144037	C	A	44144037	2	1	52	1	0	0	0	0	0	0	0	1	2631	668	24	3		3	CAPN11	6	44144037	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	728953	44144037	126971030	223	10874											
TINAG	27283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	54185431	54185431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagtaattaaagaaaactGcaactcctggtaataaattt	5	6	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:54185431G>T	ENST00000259782.4	+	2	506	c.410G>T	c.(409-411)tGc>tTc	p.C137F	TINAG_ENST00000370864.3_Missense_Mutation_p.C119F|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.C133F	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	137					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAAGAAAACTGCAACTCCTGG	0.308																																					p.C137F		.											.	TINAG-93	0			c.G410T						.						127	136	133					6																	54185431		2202	4298	6500	SO:0001583	missense	27283	exon2			AAAACTGCAACTC	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.410G>T	6.37:g.54185431G>T	ENSP00000259782:p.Cys137Phe	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	27	17	NM_014464	0	0	0	0	0	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437111	0.62955	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	T;T;T	0.76060	-0.99;-0.99;-0.99	5.5	5.5	0.81552	.	0.078274	0.56097	D	0.000031	D	0.85261	0.5656	M	0.85859	2.78	0.48395	D	0.999648	P;D	0.89917	0.857;1.0	P;D	0.87578	0.65;0.998	D	0.87396	0.2366	10	0.87932	D	0	.	14.8827	0.70545	0.0:0.0:1.0:0.0	.	137;137	Q9UJW2;Q7Z477	TINAG_HUMAN;.	F	133;137;119	ENSP00000359906:C133F;ENSP00000259782:C137F;ENSP00000359901:C119F	ENSP00000259782:C137F	C	+	2	0	TINAG	54293390	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.479000	0.66813	2.568000	0.86640	0.563000	0.77884	TGC	.		0.308	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54185431	G	T	54185431	3	4	52	1	0	0	0	0	1	0	0	0	15968	1319	46	3	416	3	TINAG	6	54185431	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10041394	54185431	116929636	224	10875											
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	64395054	64395054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacagccagtcaagtagCgtttcttacttagagtcaaa	8	8	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:64395054C>T	ENST00000262043.3	+	4	1771	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	PHF3_ENST00000393387.1_Silent_p.S477S|PHF3_ENST00000509330.1_Silent_p.S477S			Q92576	PHF3_HUMAN	PHD finger protein 3	477					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)			AGTCAAGTAGCGTTTCTTACT	0.358																																					p.S477S	GBM(135;136 1820 29512 34071 46235)	.											.	PHF3-229	0			c.C1431T						.						45	49	48					6																	64395054		2199	4297	6496	SO:0001819	synonymous_variant	23469	exon3			AAGTAGCGTTTCT	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.1431C>T	6.37:g.64395054C>T		Somatic	187	1		WXS	Illumina GAIIx	Phase_I	136	112	NM_015153	0	0	0	6	6	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	CCDS4966.1																																																																																			.		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64395054	C	T	64395054	2	4	52	1	0	0	0	0	0	0	0	1	11875	767	27	1		1	PHF3	6	64395054	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10209623	64395054	106720013	225	10876											
COL19A1	1310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	70873275	70873275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcctggtcccacaggagCaaaaggtgaaaaggtacaaa	10	9	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:70873275C>T	ENST00000322773.4	+	36	2489	c.2387C>T	c.(2386-2388)gCa>gTa	p.A796V	COL19A1_ENST00000393344.1_Missense_Mutation_p.A418V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	796	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCACAGGAGCAAAAGGTGAA	0.438																																					p.A796V		.											.	COL19A1-156	0			c.C2387T						.						81	71	75					6																	70873275		2203	4300	6503	SO:0001583	missense	1310	exon36			CAGGAGCAAAAGG		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2387C>T	6.37:g.70873275C>T	ENSP00000316030:p.Ala796Val	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	82	61	NM_001858	0	0	0	0	0	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982236	0.34942	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93763	-3.28;-3.28	6.06	3.21	0.36854	.	0.447995	0.23760	N	0.044833	T	0.77994	0.4214	L	0.28694	0.88	0.28445	N	0.916627	B	0.06786	0.001	B	0.14578	0.011	T	0.66709	-0.5855	10	0.27082	T	0.32	.	8.5541	0.33469	0.1255:0.7435:0.0:0.1309	.	796	Q14993	COJA1_HUMAN	V	796;418	ENSP00000316030:A796V;ENSP00000377013:A418V	ENSP00000316030:A796V	A	+	2	0	COL19A1	70929996	0.913000	0.31002	1.000000	0.80357	0.990000	0.78478	1.587000	0.36622	0.897000	0.36392	0.655000	0.94253	GCA	.		0.438	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70873275	C	T	70873275	3	4	52	1	0	0	0	0	1	0	0	0	3683	710	25	3	2525	3	COL19A1	6	70873275	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6478221	70873275	100241792	226	10877											
ARMC2	84071	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	109249377	109249377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttccccagctctgcacGgcaatggaacagtacaaggg	11	14	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:109249377G>A	ENST00000392644.4	+	11	1605	c.1437G>A	c.(1435-1437)acG>acA	p.T479T	ARMC2_ENST00000368972.3_Silent_p.T314T	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	479										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGCTCTGCACGGCAATGGAAC	0.423																																					p.T479T		.											.	ARMC2-68	0			c.G1437A						.						190	171	178					6																	109249377		2203	4300	6503	SO:0001819	synonymous_variant	84071	exon11			CTGCACGGCAATG	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1437G>A	6.37:g.109249377G>A		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	117	59	NM_032131	0	0	1	1	0	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	CCDS5069.2																																																																																			.		0.423	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		A	109249377	G	A	109249377	2	1	52	1	0	0	0	0	0	0	0	1	952	1103	39	1		1	ARMC2	6	109249377	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	38376102	109249377	61865690	227	10878											
SESN1	27244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	109308793	109308793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcataaaggagttctGcttgcatcctagcttctata	8	9	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:109308793G>A	ENST00000356644.7	-	10	1527	c.1433C>T	c.(1432-1434)gCa>gTa	p.A478V	SESN1_ENST00000436639.2_Missense_Mutation_p.A537V|SESN1_ENST00000302071.2_Missense_Mutation_p.A412V	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	478					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AAGGAGTTCTGCTTGCATCCT	0.368																																					p.A537V		.											.	SESN1-227	0			c.C1610T						.						127	117	121					6																	109308793		2203	4300	6503	SO:0001583	missense	27244	exon10			AGTTCTGCTTGCA	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.1433C>T	6.37:g.109308793G>A	ENSP00000349061:p.Ala478Val	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	50	32	NM_014454	0	0	2	6	4	Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745198	0.89663	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.48201	0.82;0.82;0.82	6.03	6.03	0.97812	.	0.096627	0.64402	D	0.000001	T	0.66742	0.2820	M	0.78285	2.405	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.62515	-0.6838	10	0.40728	T	0.16	-26.5378	20.5666	0.99351	0.0:0.0:1.0:0.0	.	537;478	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	V	537;412;478	ENSP00000393762:A537V;ENSP00000306734:A412V;ENSP00000349061:A478V	ENSP00000306734:A412V	A	-	2	0	SESN1	109415486	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.421000	0.97455	2.854000	0.98071	0.655000	0.94253	GCA	.		0.368	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		A	109308793	G	A	109308793	3	1	52	1	0	0	0	0	1	0	0	0	14169	1319	46	3	49	3	SESN1	6	109308793	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	59416	109308793	61806274	228	10879											
GPR6	2830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	110300812	110300812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccattacggtggaccGctacctgtccctgtataacg	11	13	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:110300812G>A	ENST00000275169.3	+	1	515	c.497G>A	c.(496-498)cGc>cAc	p.R166H	GPR6_ENST00000414000.2_Missense_Mutation_p.R181H	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	166					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACGGTGGACCGCTACCTGTCC	0.637																																					p.R166H		.											.	GPR6-90	0			c.G497A						.						84	84	84					6																	110300812		2203	4300	6503	SO:0001583	missense	2830	exon1			TGGACCGCTACCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.497G>A	6.37:g.110300812G>A	ENSP00000275169:p.Arg166His	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	75	60	NM_005284	0	0	0	0	0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764096	0.89932	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	D;D	0.97161	-4.27;-4.27	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99208	1.0875	10	0.87932	D	0	.	18.0945	0.89485	0.0:0.0:1.0:0.0	.	181;166	B4DHS9;P46095	.;GPR6_HUMAN	H	166;181;166	ENSP00000406986:R181H;ENSP00000275169:R166H	ENSP00000275169:R166H	R	+	2	0	GPR6	110407505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.652000	0.98499	2.504000	0.84457	0.563000	0.77884	CGC	.		0.637	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			A	110300812	G	A	110300812	3	1	52	1	0	0	0	0	1	0	0	0	6727	1087	38	1	499	1	GPR6	6	110300812	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	992019	110300812	60814255	229	10880											
C6orf170	221322	broad.mit.edu;bcgsc.ca	37	chr6	121655474	121655474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaagaatctcttcggcacActccagggaaggggcacccg	11	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:121655474A>C	ENST00000398212.2	-	1	152	c.103T>G	c.(103-105)Tgt>Ggt	p.C35G	TBC1D32_ENST00000275159.6_Missense_Mutation_p.C35G	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	35					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)										TCTTCGGCACACTCCAGGGAA	0.483																																					p.C35G		.											.	C6orf170-92	0			c.T103G						.						68	67	67					6																	121655474		1917	4121	6038	SO:0001583	missense	221322	exon1			CGGCACACTCCAG	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.103T>G	6.37:g.121655474A>C	ENSP00000381270:p.Cys35Gly	Somatic	357	1		WXS	Illumina GAIIx	Phase_I	312	21	NM_152730	0	0	0	0	0	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895412	0.72639	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.26660	1.72;1.72;1.72	5.25	4.08	0.47627	.	0.275522	0.35495	N	0.003166	T	0.32164	0.0820	M	0.61703	1.905	0.47065	D	0.999309	D	0.69078	0.997	P	0.62014	0.897	T	0.13953	-1.0490	10	0.66056	D	0.02	-7.1289	12.3677	0.55238	0.8589:0.1411:0.0:0.0	.	35	Q96NH3	BROMI_HUMAN	G	35	ENSP00000275159:C35G;ENSP00000381270:C35G;ENSP00000397993:C35G	ENSP00000275159:C35G	C	-	1	0	C6orf170	121697173	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.202000	0.72131	0.999000	0.39023	0.260000	0.18958	TGT	.		0.483	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		C	121655474	A	C	121655474	3	2	52	1	0	0	0	0	1	0	0	0	2351	159	6	5	3798	5	C6orf170	6	121655474	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	11354662	121655474	49459593	230	10881											
MED23	9439	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	131944491	131944491	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttataataagaaaaatatacCttgtaatccactcccccaat	2	10	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:131944491C>A	ENST00000368068.3	-	5	575	c.396G>T	c.(394-396)aaG>aaT	p.K132N	MED23_ENST00000368058.1_Splice_Site_p.K132N|MED23_ENST00000403834.3_Splice_Site_p.K132N|MED23_ENST00000540546.1_Splice_Site_p.K132N|MED23_ENST00000368053.4_Splice_Site_p.K132N|MED23_ENST00000354577.4_Splice_Site_p.K132N|MED23_ENST00000539158.1_Splice_Site_p.K132N|MED23_ENST00000368060.3_Splice_Site_p.K132N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	132					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAAAATATACCTTGTAATCCA	0.358																																					p.K132N		.											.	MED23-24	0			c.G396T						.						63	68	67					6																	131944491		2203	4300	6503	SO:0001630	splice_region_variant	9439	exon5			ATATACCTTGTAA	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.396+1G>T	6.37:g.131944491C>A		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	20	6	NM_015979	0	0	0	0	0	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668191	0.88348	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.97110	0.978;1.0;0.999	D	0.88953	0.3388	9	.	.	.	-2.3956	19.5806	0.95465	0.0:1.0:0.0:0.0	.	132;132;132	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	N	132	ENSP00000346588:K132N;ENSP00000357047:K132N;ENSP00000384536:K132N;ENSP00000357039:K132N;ENSP00000357037:K132N;ENSP00000357032:K132N;ENSP00000437818:K132N;ENSP00000445072:K132N	.	K	-	3	2	MED23	131986184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.999000	0.70665	2.686000	0.91538	0.650000	0.86243	AAG	.		0.358	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Missense_Mutation	A	131944491	C	A	131944491	5	1	52	1	0	0	0	0	0	0	1	0	9479	695	24	3	3839	3	MED23	6	131944491	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10289017	131944491	39170576	231	10882											
TCF21	6943	broad.mit.edu;bcgsc.ca	37	chr6	134210849	134210849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccagactcaagaccaCcctgccctgggtgccccccg	8	20	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:134210849C>T	ENST00000367882.4	+	1	574	c.314C>T	c.(313-315)aCc>aTc	p.T105I	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T105I|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	105	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCAAGACCACCCTGCCCTGG	0.662																																					p.T105I		.											.	TCF21-90	0			c.C314T						.						77	78	78					6																	134210849		2203	4300	6503	SO:0001583	missense	6943	exon1			AGACCACCCTGCC	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.314C>T	6.37:g.134210849C>T	ENSP00000356857:p.Thr105Ile	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	181	9	NM_003206	0	0	1	1	0	E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985972	0.53934	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.97455	-4.39;-4.39	4.47	3.6	0.41247	Helix-loop-helix DNA-binding (5);	0.051182	0.85682	D	0.000000	D	0.90225	0.6944	N	0.05050	-0.12	0.58432	D	0.999999	B	0.29212	0.237	B	0.42386	0.386	D	0.87062	0.2154	10	0.41790	T	0.15	-19.4754	12.2279	0.54472	0.0:0.9164:0.0:0.0836	.	105	O43680	TCF21_HUMAN	I	105	ENSP00000356857:T105I;ENSP00000237316:T105I	ENSP00000237316:T105I	T	+	2	0	TCF21	134252542	1.000000	0.71417	0.758000	0.31321	0.606000	0.37113	7.818000	0.86416	0.867000	0.35654	0.462000	0.41574	ACC	.		0.662	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		T	134210849	C	T	134210849	3	4	52	1	0	0	0	0	1	0	0	0	15738	507	18	3	316	3	TCF21	6	134210849	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2266358	134210849	36904218	232	10883											
PLAGL1	5325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	144269185	144269185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacacacttgtacggcCgctccctggagtgggaataa	12	12	0	0	rs201696236		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:144269185C>T	ENST00000360537.2	-	4	2002	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	PLAGL1_ENST00000392307.1_Intron|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000367572.1_Intron|PLAGL1_ENST00000437412.1_Intron|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R30Q|PLAGL1_ENST00000354765.2_Missense_Mutation_p.R30Q|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R30Q			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	30					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTTGTACGGCCGCTCCCTGGA	0.498																																					p.R30Q		.											.	PLAGL1-91	0			c.G89A						.						80	66	70					6																	144269185		2203	4300	6503	SO:0001583	missense	5325	exon6			TACGGCCGCTCCC	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.89G>A	6.37:g.144269185C>T	ENSP00000353734:p.Arg30Gln	Somatic	310	1		WXS	Illumina GAIIx	Phase_I	272	232	NM_001080953	0	0	0	0	0	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026116	0.93518	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000367571	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	6.02	5.16	0.70880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.19927	0.0479	L	0.46819	1.47	0.80722	D	1	P	0.51791	0.948	P	0.57009	0.811	T	0.01042	-1.1471	10	0.72032	D	0.01	-31.3473	14.4943	0.67674	0.0:0.93:0.0:0.07	.	30	Q9UM63	PLAL1_HUMAN	Q	30	ENSP00000353734:R30Q;ENSP00000346810:R30Q;ENSP00000400929:R30Q;ENSP00000398409:R30Q;ENSP00000376125:R30Q;ENSP00000400060:R30Q;ENSP00000356543:R30Q	ENSP00000346810:R30Q	R	-	2	0	PLAGL1	144310878	1.000000	0.71417	0.984000	0.44739	0.900000	0.52787	3.813000	0.55636	1.565000	0.49641	0.655000	0.94253	CGG	.		0.498	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			T	144269185	C	T	144269185	3	4	52	1	0	0	0	0	1	0	0	0	12058	652	23	1	1310	1	PLAGL1	6	144269185	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10058336	144269185	26845882	233	10884											
SNX9	51429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158349722	158349722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcaggagcactggaagCgctgcacgggccgtaagtcc	17	11	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:158349722C>T	ENST00000392185.3	+	12	1447	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	426	BAR.				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)		GCACTGGAAGCGCTGCACGGG	0.602																																					p.R426C		.											.	SNX9-226	0			c.C1276T						.						58	40	46					6																	158349722		2203	4299	6502	SO:0001583	missense	51429	exon12			TGGAAGCGCTGCA	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.1276C>T	6.37:g.158349722C>T	ENSP00000376024:p.Arg426Cys	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	55	48	NM_016224	0	0	0	0	0	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299630	0.40694	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.52754	0.65	5.02	4.15	0.48705	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61187	-0.7113	10	0.87932	D	0	-17.3613	9.3112	0.37905	0.1524:0.7692:0.0:0.0784	.	426	Q9Y5X1	SNX9_HUMAN	C	426;426;226	ENSP00000376024:R426C	ENSP00000252631:R226C	R	+	1	0	SNX9	158269710	1.000000	0.71417	0.970000	0.41538	0.063000	0.16089	2.202000	0.42743	2.328000	0.79073	0.563000	0.77884	CGC	.		0.602	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			T	158349722	C	T	158349722	3	4	52	1	0	0	0	0	1	0	0	0	14954	768	27	1	1322	1	SNX9	6	158349722	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14080537	158349722	12765345	234	10885											
FNDC1	84624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	159660704	159660704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcaaaaaaaccacccatCcccctaccactaccatgcag	2	18	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:159660704C>T	ENST00000297267.9	+	14	4536	c.4336C>T	c.(4336-4338)Ccc>Tcc	p.P1446S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1383S|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1446	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AACCACCCATCCCCCTACCAC	0.597																																					p.P1446S		.											.	FNDC1-138	0			c.C4336T						.						60	94	82					6																	159660704		1976	3995	5971	SO:0001583	missense	84624	exon14			ACCCATCCCCCTA	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.4336C>T	6.37:g.159660704C>T	ENSP00000297267:p.Pro1446Ser	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	51	31	NM_032532	0	0	0	0	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.140|5.140	0.211481|0.211481	0.09757|0.09757	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08193|.	3.12;3.94|.	4.91|4.91	-3.23|-3.23	0.05109|0.05109	.|.	0.943151|.	0.08893|.	N|.	0.878427|.	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.16396|.	0.017;0.01|.	B;B|.	0.15484|.	0.013;0.005|.	T|T	0.38394|0.38394	-0.9663|-0.9663	10|5	0.52906|.	T|.	0.07|.	-0.797|-0.797	4.9618|4.9618	0.14070|0.14070	0.0892:0.364:0.3895:0.1572|0.0892:0.364:0.3895:0.1572	.|.	1383;1446|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|F	1446;1383|1341	ENSP00000297267:P1446S;ENSP00000342460:P1383S|.	ENSP00000297267:P1446S|.	P|S	+|+	1|2	0|0	FNDC1|FNDC1	159580694|159580694	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.243000|0.243000	0.25628|0.25628	-0.444000|-0.444000	0.06854|0.06854	-0.289000|-0.289000	0.09038|0.09038	-0.175000|-0.175000	0.13238|0.13238	CCC|TCC	.		0.597	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159660704	C	T	159660704	3	4	52	1	0	0	0	0	1	0	0	0	5990	855	30	3	4390	3	FNDC1	6	159660704	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1310982	159660704	11454363	235	10886											
SLC22A3	6581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	160864677	160864677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaatttcggagtttcGctctgttcaggtctgtgtga	11	7	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:160864677G>A	ENST00000275300.2	+	9	1565	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	SLC22A3_ENST00000392145.1_Silent_p.S472S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	471					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.S471S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TCGGAGTTTCGCTCTGTTCAG	0.378																																					p.S471S		.											.	SLC22A3-517	1	Substitution - coding silent(1)	prostate(1)	c.G1413A						.						114	104	108					6																	160864677		2203	4300	6503	SO:0001819	synonymous_variant	6581	exon9			AGTTTCGCTCTGT	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1413G>A	6.37:g.160864677G>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	42	35	NM_021977	0	0	0	19	19	Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	CCDS5277.1																																																																																			.		0.378	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		A	160864677	G	A	160864677	2	1	52	1	0	0	0	0	0	0	0	1	14500	1074	38	1		1	SLC22A3	6	160864677	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1203973	160864677	10250390	236	10887											
PLG	5340	broad.mit.edu;bcgsc.ca	37	chr6	161139344	161139344	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaacacctccaccatcttCtggtcccacctaccagtgtc	5	18	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:161139344C>A	ENST00000308192.9	+	8	869	c.806C>A	c.(805-807)tCt>tAt	p.S269Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	269					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCACCATCTTCTGGTCCCACC	0.502																																					p.S269Y		.											.	PLG-94	0			c.C806A						.						109	100	103					6																	161139344		2203	4300	6503	SO:0001583	missense	5340	exon8			CATCTTCTGGTCC	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.806C>A	6.37:g.161139344C>A	ENSP00000308938:p.Ser269Tyr	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	129	6	NM_000301	0	0	0	0	0	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807946	0.50421	.	.	ENSG00000122194	ENST00000308192	D	0.88046	-2.33	5.0	5.0	0.66597	Kringle-like fold (1);	0.436751	0.16674	U	0.204228	T	0.81931	0.4927	M	0.70842	2.15	0.09310	N	1	P	0.38788	0.647	B	0.36186	0.219	T	0.79463	-0.1793	10	0.62326	D	0.03	.	17.4383	0.87558	0.0:1.0:0.0:0.0	.	269	P00747	PLMN_HUMAN	Y	269	ENSP00000308938:S269Y	ENSP00000308938:S269Y	S	+	2	0	PLG	161059334	0.975000	0.34042	0.001000	0.08648	0.090000	0.18270	4.958000	0.63660	2.486000	0.83907	0.591000	0.81541	TCT	.		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161139344	C	A	161139344	3	1	52	1	0	0	0	0	1	0	0	0	12125	913	32	3	840	3	PLG	6	161139344	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	274667	161139344	9975723	237	10888											
PRR18	285800	hgsc.bcm.edu	37	chr6	166720806	166720806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgcgcggcagccgcGgactccacgccgcgcagcca	14	21	0	0	rs911203	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7	7	7		825	2.4	1	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		C	166720806	G	C	166720806	2	2	52	1	0	0	0	0	0	0	0	1	12632	1103	39	2		2	PRR18	6	166720806	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5581462	166720806	4394261	238	10889											
SMOC2	64094	hgsc.bcm.edu	37	chr6	168842113	168842113	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgccggtgcccgcTcagaagttctcggcgctcac	11	18	3	1	rs73270928	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr6:168842113T>G	ENST00000356284.2	+	1	283	c.63T>G	c.(61-63)gcT>gcG	p.A21A	SMOC2_ENST00000354536.5_Silent_p.A21A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	21					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGTGCCCGCTCAGAAGTTCT	0.751													G|||	1980	0.395367	0.5787	0.2839	5008	,	,		9314	0.4593		0.167	False		,,,				2504	0.3957				p.A21A		.											.	SMOC2-91	0			c.T63G						.	G	,	924,2074		89,746,664	2	3	3		63,63	-0.4	1	6	dbSNP_131	3	645,5799		34,577,2611	no	coding-synonymous,coding-synonymous	SMOC2	NM_001166412.1,NM_022138.2	,	123,1323,3275	GG,GT,TT		10.0093,30.8205,16.6172	,	21/447,21/458	168842113	1569,7873	1499	3222	4721	SO:0001819	synonymous_variant	64094	exon1			GCCCGCTCAGAAG	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.63T>G	6.37:g.168842113T>G		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	25	20	NM_022138	0	0	0	0	0	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																			T|0.654;G|0.346		0.751	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168842113	T	G	168842113	2	3	52	1	0	0	0	0	0	0	0	1	14847	1538	54	5		5	SMOC2	6	168842113	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	2121307	168842113	2272954	239	10890											
CYP2W1	54905	hgsc.bcm.edu	37	chr7	1027032	1027032	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccctgggcggactccCcggctggaggaccagcaggc	17	15	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:1027032C>G	ENST00000308919.7	+	7	1021	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	CYP2W1_ENST00000340150.6_Silent_p.P280P	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	336					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGCGGACTCCCCGGCTGGAGG	0.726																																					p.P336P		.											.	CYP2W1-90	0			c.C1008G						.						11	13	13					7																	1027032		2162	4274	6436	SO:0001819	synonymous_variant	54905	exon7			GACTCCCCGGCTG	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.1008C>G	7.37:g.1027032C>G		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	45	20	NM_017781	0	0	0	6	6		Silent	SNP	ENST00000308919.7	37	CCDS5319.2																																																																																			.		0.726	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		G	1027032	C	G	1027032	2	3	52	1	0	0	0	0	0	0	0	1	4185	610	22	3		3	CYP2W1	7	1027032	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		1027032	158111631	240	10891											
IQCE	23288	hgsc.bcm.edu;broad.mit.edu	37	chr7	2641074	2641075	+	Splice_Site	INS	-	-	A													ctttctttttttttttccagINSaaaaaaaaggctgttctgga							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:2641074_2641075insA	ENST00000402050.2	+	18	1792_1793		c.e18-1		IQCE_ENST00000438376.2_Splice_Site|IQCE_ENST00000404984.1_Splice_Site|IQCE_ENST00000325979.7_Splice_Site	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E							mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTTTTTTCCAGAAAAAAAAGGC	0.342																																					.		.											.	IQCE-226	0			c.1561-1->A						.																																			SO:0001630	splice_region_variant	23288	exon17			TTTCCAGAAAAAA	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1609-1->A	7.37:g.2641082_2641082dupA		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	82	13	NM_001100390	0	0	0	0	0	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Splice_Site	INS	ENST00000402050.2	37	CCDS43542.1																																																																																			.		0.342	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	Intron	A	2641075	-	A	2641074	8	5	52	1	0	1	1	0	0	0	1	0	7833	956	33	0	1678	0	IQCE	7	2641074	Splice_Site	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	1614042	2641074	156497589	241	10892											
HOXA3	3200	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	27147667	27147667	+	Frame_Shift_Del	DEL	C	C	-													cgctgcccagcggcccggcaCccccatagtccatggcgccc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:27147667delC	ENST00000396352.4	-	3	1398	c.1199delG	c.(1198-1200)ggtfs	p.G400fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Frame_Shift_Del_p.G400fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	400					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CGGCCCGGCACCCCCATAGTC	0.697																																					p.G400fs	Esophageal Squamous(136;1368 1743 5685 7935 50360)	.											.	HOXA3-153	0			c.1199delG						.						27	31	29					7																	27147667		2201	4300	6501	SO:0001589	frameshift_variant	3200	exon3			CCGGCACCCCCAT		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1199delG	7.37:g.27147667delC	ENSP00000379640:p.Gly400fs	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	76	37	NM_030661	0	0	0	0	0	A4D181	Frame_Shift_Del	DEL	ENST00000396352.4	37	CCDS5404.1																																																																																			.		0.697	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			-	27147667	C	-	27147667	7	5	52	1	0	1	0	1	0	0	0	0	7320	507	18	0	136	0	HOXA3	7	27147667	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	24506593	27147667	131990996	242	10893											
PRR15	222171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	29606205	29606205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatccggcagcagccgccGcaatttgaagatctcgcgct	10	14	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:29606205G>A	ENST00000319694.2	+	2	972	c.260G>A	c.(259-261)cGc>cAc	p.R87H	AC007255.8_ENST00000447171.1_RNA|AC007255.8_ENST00000450540.2_RNA	NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	87					multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						AGCAGCCGCCGCAATTTGAAG	0.657																																					p.R87H		.											.	PRR15-46	0			c.G260A						.						7	9	9					7																	29606205		2177	4269	6446	SO:0001583	missense	222171	exon2			GCCGCCGCAATTT	BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.260G>A	7.37:g.29606205G>A	ENSP00000317836:p.Arg87His	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	88	14	NM_175887	0	0	11	14	3		Missense_Mutation	SNP	ENST00000319694.2	37	CCDS5421.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957730	0.92726	.	.	ENSG00000176532	ENST00000319694	T	0.61627	0.09	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.74997	0.3790	M	0.72894	2.215	0.47374	D	0.999403	D	0.89917	1.0	D	0.91635	0.999	T	0.78391	-0.2222	10	0.87932	D	0	-24.6843	15.7838	0.78286	0.0:0.0:1.0:0.0	.	87	Q8IV56	PRR15_HUMAN	H	87	ENSP00000317836:R87H	ENSP00000317836:R87H	R	+	2	0	PRR15	29572730	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.809000	0.69172	2.324000	0.78689	0.313000	0.20887	CGC	.		0.657	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250402.2	NM_175887		A	29606205	G	A	29606205	3	1	52	1	0	0	0	0	1	0	0	0	12629	1087	38	1	262	1	PRR15	7	29606205	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2458538	29606205	129532458	243	10894											
NOD1	10392	hgsc.bcm.edu;bcgsc.ca	37	chr7	30491510	30491510	+	Frame_Shift_Del	DEL	C	C	-													actcataggactgctggtcaCccccggggcccagctccggc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:30491510delC	ENST00000222823.4	-	6	2048	c.1523delG	c.(1522-1524)ggtfs	p.G508fs		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	508	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCTGGTCACCCCCGGGGCC	0.627																																					p.G508fs		.											.	NOD1-229	0			c.1523delG						.						36	43	41					7																	30491510		2203	4300	6503	SO:0001589	frameshift_variant	10392	exon6			TGGTCACCCCCGG	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1523delG	7.37:g.30491510delC	ENSP00000222823:p.Gly508fs	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	94	40	NM_006092	0	0	0	0	0	B4DTU3|Q549U4|Q8IWF5	Frame_Shift_Del	DEL	ENST00000222823.4	37	CCDS5427.1																																																																																			.		0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			-	30491510	C	-	30491510	7	5	52	1	0	1	0	1	0	0	0	0	10555	507	18	0	1374	0	NOD1	7	30491510	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	885305	30491510	128647153	244	10895											
MYO1G	64005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45014805	45014805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagtttctttcacccaCgtgctgcttgaggacccgag	12	11	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:45014805C>T	ENST00000258787.7	-	5	722	c.586G>A	c.(586-588)Gtg>Atg	p.V196M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	196	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V196M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTTTCACCCACGTGCTGCTTG	0.597																																					p.V196M		.											.	MYO1G-137	1	Substitution - Missense(1)	large_intestine(1)	c.G586A						.						227	219	222					7																	45014805		2203	4300	6503	SO:0001583	missense	64005	exon5			CACCCACGTGCTG	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.586G>A	7.37:g.45014805C>T	ENSP00000258787:p.Val196Met	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	179	80	NM_033054	0	0	0	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.701282	0.48307	.	.	ENSG00000136286	ENST00000258787	D	0.87256	-2.23	4.82	1.86	0.25419	Myosin head, motor domain (2);	0.726614	0.11295	N	0.578856	T	0.79644	0.4481	L	0.28192	0.835	0.09310	N	1	P;P	0.50369	0.934;0.893	P;P	0.48368	0.536;0.575	T	0.69851	-0.5033	10	0.49607	T	0.09	.	1.6308	0.02732	0.1479:0.4067:0.2584:0.1871	.	196;196	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	196	ENSP00000258787:V196M	ENSP00000258787:V196M	V	-	1	0	MYO1G	44981330	0.149000	0.22717	0.951000	0.38953	0.952000	0.60782	1.097000	0.30988	1.170000	0.42753	-0.119000	0.15052	GTG	.		0.597	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			T	45014805	C	T	45014805	3	4	52	1	0	0	0	0	1	0	0	0	10112	536	19	1	2542	1	MYO1G	7	45014805	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14523295	45014805	114123858	245	10896											
TNS3	64759	broad.mit.edu	37	chr7	47331569	47331569	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgccccctgcttcaaCagctcagctgctgaattggc	9	15	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:47331569C>G	ENST00000398879.1	-	27	4278	c.3912G>C	c.(3910-3912)ctG>ctC	p.L1304L	TNS3_ENST00000311160.9_Silent_p.L1304L|TNS3_ENST00000355730.3_Silent_p.L1064L			Q68CZ2	TENS3_HUMAN	tensin 3	1304					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						CCTGCTTCAACAGCTCAGCTG	0.483																																					p.L1304L		.											.	TNS3-94	0			c.G3912C						.						74	75	75					7																	47331569		1879	4113	5992	SO:0001819	synonymous_variant	64759	exon27			CTTCAACAGCTCA	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.3912G>C	7.37:g.47331569C>G		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	88	3	NM_022748	0	0	1	1	0	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	CCDS5506.2																																																																																			.		0.483	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		G	47331569	C	G	47331569	2	3	52	1	0	0	0	0	0	0	0	1	16391	465	17	3		3	TNS3	7	47331569	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2316764	47331569	111807094	246	10897											
EGFR	1956	broad.mit.edu;bcgsc.ca	37	chr7	55273030	55273030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcagcctctgaaccccgCgcccagcagagacccacact	7	19	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:55273030C>T	ENST00000275493.2	+	28	3530	c.3353C>T	c.(3352-3354)gCg>gTg	p.A1118V	EGFR_ENST00000454757.2_Missense_Mutation_p.A1065V|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1118					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)	CTGAACCCCGCGCCCAGCAGA	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.A1118V		.	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-44910	0			c.C3353T						.						85	78	80					7																	55273030		2203	4300	6503	SO:0001583	missense	1956	exon28	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ACCCCGCGCCCAG		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.3353C>T	7.37:g.55273030C>T	ENSP00000275493:p.Ala1118Val	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	162	6	NM_005228	0	0	2	3	1	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	4.660	0.122727	0.08931	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.73681	-0.76;-0.77	5.34	4.34	0.51931	.	0.886115	0.10237	N	0.698862	T	0.66336	0.2779	M	0.63843	1.955	0.22771	N	0.998758	B	0.31413	0.322	B	0.21917	0.037	T	0.55717	-0.8097	10	0.33141	T	0.24	.	6.0512	0.19787	0.2604:0.6445:0.0:0.0951	.	1118	P00533	EGFR_HUMAN	V	988;1118;1065	ENSP00000275493:A1118V;ENSP00000395243:A1065V	ENSP00000275493:A1118V	A	+	2	0	EGFR	55240524	0.039000	0.19947	0.019000	0.16419	0.025000	0.11179	3.145000	0.50623	2.663000	0.90544	0.558000	0.71614	GCG	.		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55273030	C	T	55273030	3	4	52	1	0	0	0	0	1	0	0	0	4981	768	27	1	3727	1	EGFR	7	55273030	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7941461	55273030	103865633	247	10898											
MLXIPL	51085	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	73008706	73008709	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													caccatcccgttgaaggactCaaacagaggccggatgagga							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CAAA	CAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:73008706_73008709delCAAA	ENST00000313375.3	-	16	2382_2385	c.2335_2338delTTTG	c.(2335-2340)tttgagfs	p.FE779fs	MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.FE777fs|MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.FE685fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.FE686fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.FE760fs|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.FE758fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	779					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)				TTGAAGGACTCAAACAGAGGCCGG	0.637																																					p.779_780del		.											.	MLXIPL-91	0			c.2335_2338del						.																																			SO:0001589	frameshift_variant	51085	exon16			AGGACTCAAACAG	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.2335_2338delTTTG	7.37:g.73008706_73008709delCAAA	ENSP00000320886:p.Phe779fs	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	61	29	NM_032951	0	0	0	0	0	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	ENST00000313375.3	37	CCDS5553.1																																																																																			.		0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		-	73008709	CAAA	-	73008706	7	5	52	1	0	1	0	1	0	0	0	0	9675	835	29	0	228	0	MLXIPL	7	73008706	Frame_Shift_Del	DEL	CAAA	TCGA-OR-A5LJ-01A-11D-A29I-10	17735676	73008706	86129957	248	10899											
GTF2IRD2B	389524	bcgsc.ca	37	chr7	74538966	74538966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggacaacagtgatggtgCctgttccctatgagaagatg	13	7	0	3	rs200012926	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:74538966C>T	ENST00000312575.7	+	5	563	c.388C>T	c.(388-390)Cct>Tct	p.P130S	GTF2IRD2B_ENST00000430511.2_Missense_Mutation_p.P130S|GTF2IRD2B_ENST00000356115.5_Missense_Mutation_p.P130S	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						AGTGATGGTGCCTGTTCCCTA	0.478																																					p.P130S		.											.	GTF2IRD2B-45	0			c.C388T						.																																			SO:0001583	missense	389524	exon5			ATGGTGCCTGTTC	AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.388C>T	7.37:g.74538966C>T	ENSP00000308080:p.Pro130Ser	Somatic	1243	1		WXS	Illumina GAIIx	Phase_I	1350	30	NM_001003795	0	0	9	9	0	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	37	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200097	0.38905	.	.	ENSG00000174428	ENST00000356115;ENST00000430511;ENST00000312575	T;T;T	0.43294	0.95;0.95;0.95	4.01	3.13	0.36017	.	.	.	.	.	T	0.59348	0.2187	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61783	-0.6992	9	0.87932	D	0	-24.7571	10.5736	0.45214	0.0:0.9024:0.0:0.0976	.	130;130	Q86UP8-2;Q6EKJ0	.;GTD2B_HUMAN	S	130	ENSP00000348427:P130S;ENSP00000413588:P130S;ENSP00000308080:P130S	ENSP00000308080:P130S	P	+	1	0	GTF2IRD2B	74176902	0.993000	0.37304	0.399000	0.26333	0.094000	0.18550	3.376000	0.52417	1.012000	0.39366	0.585000	0.79938	CCT	C|0.500;T|0.500		0.478	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		T	74538966	C	T	74538966	3	4	52	1	0	0	0	0	1	0	0	0	6897	739	26	3	402	3	GTF2IRD2B	7	74538966	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1530260	74538966	84599697	249	10900											
DTX2	113878	broad.mit.edu	37	chr7	76111983	76111983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggggcaaccagctcGtggacttggcccccctgggg	16	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:76111983G>A	ENST00000324432.5	+	5	937	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	DTX2_ENST00000307569.8_Missense_Mutation_p.V143M|DTX2_ENST00000430490.2_Missense_Mutation_p.V143M|DTX2_ENST00000413936.2_Missense_Mutation_p.V143M|DTX2_ENST00000446600.1_Missense_Mutation_p.V52M|DTX2_ENST00000446820.2_Missense_Mutation_p.V143M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	143	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAACCAGCTCGTGGACTTGGC	0.617																																					p.V143M		.											.	DTX2-524	0			c.G427A						.						49	42	44					7																	76111983		2203	4300	6503	SO:0001583	missense	113878	exon2			CAGCTCGTGGACT		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.427G>A	7.37:g.76111983G>A	ENSP00000322885:p.Val143Met	Somatic	362	0		WXS	Illumina GAIIx	Phase_I	506	14	NM_001102596	0	0	3	3	0	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.092921	0.76756	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.41	4.51	0.55191	WWE domain (2);WWE domain, subgroup (1);	0.122706	0.53938	D	0.000042	T	0.61540	0.2355	M	0.72894	2.215	0.42148	D	0.991548	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.70227	0.956;0.968;0.942	T	0.65319	-0.6197	10	0.66056	D	0.02	-15.3213	13.6407	0.62249	0.0766:0.0:0.9234:0.0	.	52;143;143	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	M	143;143;52;52;143;143;143	ENSP00000322885:V143M;ENSP00000305242:V143M;ENSP00000397648:V52M;ENSP00000390218:V143M;ENSP00000411986:V143M;ENSP00000392545:V143M	ENSP00000305242:V143M	V	+	1	0	AC005522.1	75949919	1.000000	0.71417	0.983000	0.44433	0.961000	0.63080	7.599000	0.82757	2.552000	0.86080	0.561000	0.74099	GTG	.		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			A	76111983	G	A	76111983	3	1	52	1	0	0	0	0	1	0	0	0	4808	1145	40	1	433	1	DTX2	7	76111983	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1573017	76111983	83026680	250	10901											
CCDC146	57639	broad.mit.edu	37	chr7	76888378	76888378	+	Frame_Shift_Del	DEL	A	A	-													agatagaaaaaataacacgcAaaaaagtgtatgatttaata							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:76888378delA	ENST00000285871.4	+	7	878	c.751delA	c.(751-753)aaafs	p.K252fs	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	252										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AATAACACGCAAAAAAGTGTA	0.338																																					p.K251fs		.											.	CCDC146-70	0			c.751delA						.						63	58	60					7																	76888378		2203	4300	6503	SO:0001589	frameshift_variant	57639	exon7			ACACGCAAAAAAG	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.751delA	7.37:g.76888378delA	ENSP00000285871:p.Lys252fs	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	104	10	NM_020879	0	0	0	0	0	A8K8X6|Q9P223	Frame_Shift_Del	DEL	ENST00000285871.4	37	CCDS34671.1																																																																																			.		0.338	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		-	76888378	A	-	76888378	7	5	52	1	0	1	0	1	0	0	0	0	2787	131	5	0	773	0	CCDC146	7	76888378	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	776395	76888378	82250285	251	10902											
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu	37	chr7	86556094	86556096	+	In_Frame_Del	DEL	AAG	AAG	-													tccaggaggacagggatggcAagaagatgatccattgttat							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:86556094_86556096delAAG	ENST00000450689.2	-	9	1411_1413	c.1226_1228delCTT	c.(1225-1230)tcttgc>tgc	p.S409del	KIAA1324L_ENST00000297222.6_In_Frame_Del_p.S169del|KIAA1324L_ENST00000416314.1_In_Frame_Del_p.S242del|KIAA1324L_ENST00000444627.1_In_Frame_Del_p.S409del	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	409						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)					CAGGGATGGCAAGAAGATGATCC	0.458																																					p.409_410del		.											.	KIAA1324L-97	0			c.1226_1228del						.																																			SO:0001651	inframe_deletion	222223	exon9			GATGGCAAGAAGA	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.1226_1228delCTT	7.37:g.86556097_86556099delAAG	ENSP00000413445:p.Ser409del	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	154	12	NM_001142749	0	0	0	0	0	A4D1C9|B4DJV3|Q17RI6|Q96DP2	In_Frame_Del	DEL	ENST00000450689.2	37	CCDS47632.1																																																																																			.		0.458	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		-	86556096	AAG	-	86556094	7	5	52	1	0	1	0	1	0	0	0	0	8251	130	5	0	1917	0	KIAA1324L	7	86556094	In_Frame_Del	DEL	AAG	TCGA-OR-A5LJ-01A-11D-A29I-10	9667716	86556094	72582569	252	10903											
DBF4	10926	hgsc.bcm.edu	37	chr7	87514295	87514295	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atactttgttctcttctagcGagttgaagaatttctcagca	7	8	3	2	rs533546324		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:87514295G>A	ENST00000265728.1	+	3	725	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	74	BRCT 1.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTCTTCTAGCGAGTTGAAGAA	0.353													G|||	1	0.000199681	0	0.0014	5008	,	,		19192	0		0	False		,,,				2504	0				p.R74Q		.											.	DBF4-253	0			c.G221A						.						30	32	31					7																	87514295		2203	4300	6503	SO:0001630	splice_region_variant	10926	exon3			TCTAGCGAGTTGA	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.220-1G>A	7.37:g.87514295G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	70	4	NM_006716	0	0	0	0	0	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720146	0.68844	.	.	ENSG00000006634	ENST00000265728	T	0.12672	2.66	5.83	5.83	0.93111	BRCT (1);	0.149352	0.43416	D	0.000580	T	0.22820	0.0551	L	0.60455	1.87	0.37746	D	0.925807	D	0.60160	0.987	P	0.48654	0.585	T	0.01409	-1.1362	10	0.59425	D	0.04	-10.2917	15.59	0.76521	0.0:0.1369:0.8631:0.0	.	74	Q9UBU7	DBF4A_HUMAN	Q	74	ENSP00000265728:R74Q	ENSP00000265728:R74Q	R	+	2	0	DBF4	87352231	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.994000	0.63901	2.775000	0.95449	0.585000	0.79938	CGA	.		0.353	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Missense_Mutation	A	87514295	G	A	87514295	5	1	52	1	0	0	0	0	0	0	1	0	4257	1072	37	1	231	1	DBF4	7	87514295	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	958201	87514295	71624368	253	10904											
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	88964603	88964603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttgtctgatgatatAacaaagagcagccaaatgca	7	8	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:88964603A>G	ENST00000333190.4	+	4	2916	c.2307A>G	c.(2305-2307)atA>atG	p.I769M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	769							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGATGATATAACAAAGAGCA	0.378										HNSCC(36;0.09)																											p.I769M		.											.	ZNF804B-101	0			c.A2307G						.						56	50	52					7																	88964603		2203	4300	6503	SO:0001583	missense	219578	exon4			TGATATAACAAAG	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2307A>G	7.37:g.88964603A>G	ENSP00000329638:p.Ile769Met	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	273	22	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561506	0.27915	.	.	ENSG00000182348	ENST00000333190	T	0.04654	3.58	5.26	-10.5	0.00291	.	2.088330	0.01326	N	0.011103	T	0.01627	0.0052	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.44329	-0.9335	10	0.46703	T	0.11	4.6728	2.2724	0.04094	0.2293:0.1965:0.3743:0.1999	.	769	A4D1E1	Z804B_HUMAN	M	769	ENSP00000329638:I769M	ENSP00000329638:I769M	I	+	3	3	ZNF804B	88802539	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.365000	0.07573	-2.208000	0.00740	0.455000	0.32223	ATA	.		0.378	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88964603	A	G	88964603	3	3	52	1	0	0	0	0	1	0	0	0	18219	352	13	4	2321	4	ZNF804B	7	88964603	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1450308	88964603	70174060	254	10905											
AKAP9	10142	broad.mit.edu	37	chr7	91659279	91659279	+	Frame_Shift_Del	DEL	A	A	-													tgtaccctggaagttgtgtgAaaaagaatattgatggtaca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:91659279delA	ENST00000359028.2	+	16	4480	c.4255delA	c.(4255-4257)aaafs	p.K1420fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.K1408fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.K1420fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1420					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)			AAGTTGTGTGAAAAAGAATAT	0.279			T	BRAF	papillary thyroid																																p.K1407fs		.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9-755	0			c.4219delA						.						99	106	104					7																	91659279		2203	4298	6501	SO:0001589	frameshift_variant	10142	exon15			TGTGTGAAAAAGA	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.4255delA	7.37:g.91659279delA	ENSP00000351922:p.Lys1420fs	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	186	9	NM_005751	0	0	0	0	0	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37																																																																																				.		0.279	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		-	91659279	A	-	91659279	7	5	52	1	0	1	0	1	0	0	0	0	459	247	9	0	4277	0	AKAP9	7	91659279	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	2694676	91659279	67479384	255	10906											
AP4M1	9179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	99701292	99701292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcagccagccgccccGtcctgtccagtcgctctgac	11	18	1	1	rs201065427	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:99701292G>A	ENST00000359593.4	+	6	678	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000421755.1_Missense_Mutation_p.V174I|AP4M1_ENST00000422582.1_Missense_Mutation_p.V46I|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000429084.1_Missense_Mutation_p.V181I	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	174					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGCCCCGTCCTGTCCAG	0.577													G|||	2	0.000399361	0	0	5008	,	,		17187	0.001		0	False		,,,				2504	0.001				p.V174I	Pancreas(174;1182 2812 29595 49511)	.											.	AP4M1-90	0			c.G520A						.						97	115	109					7																	99701292		2203	4300	6503	SO:0001583	missense	9179	exon6			CGCCCCGTCCTGT	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.520G>A	7.37:g.99701292G>A	ENSP00000352603:p.Val174Ile	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	96	44	NM_004722	0	0	6	20	14	D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	CCDS5685.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.22	1.573053	0.28092	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.77489	-1.09;-1.09;-1.08;-1.1;-1.08;-1.1	4.72	2.91	0.33838	.	0.120075	0.56097	D	0.000035	T	0.60405	0.2266	N	0.21448	0.665	0.34931	D	0.74939	B;P;P;P	0.37083	0.253;0.581;0.563;0.563	B;B;B;B	0.31751	0.034;0.12;0.085;0.135	T	0.66348	-0.5946	10	0.51188	T	0.08	-13.3304	9.2776	0.37709	0.179:0.0:0.821:0.0	.	130;126;181;174	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	I	106;181;174;130;174;46	ENSP00000401613:V106I;ENSP00000403663:V181I;ENSP00000352603:V174I;ENSP00000414286:V130I;ENSP00000412185:V174I;ENSP00000406676:V46I	ENSP00000352603:V174I	V	+	1	0	AP4M1	99539228	0.992000	0.36948	0.499000	0.27577	0.743000	0.42351	2.365000	0.44196	0.588000	0.29660	-0.448000	0.05591	GTC	G|0.999;A|0.000		0.577	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		A	99701292	G	A	99701292	3	1	52	1	0	0	0	0	1	0	0	0	753	1145	40	1	542	1	AP4M1	7	99701292	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	8042013	99701292	59437371	256	10907											
C7orf51	222950	broad.mit.edu	37	chr7	100086933	100086933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctccaccaccgcggctGcctggcctccccccacagcc	9	23	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:100086933G>T	ENST00000300179.2	+	4	1748	c.1589G>T	c.(1588-1590)tGc>tTc	p.C530F	NYAP1_ENST00000454988.1_Missense_Mutation_p.C473F|NYAP1_ENST00000423930.1_Missense_Mutation_p.C530F	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	530					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CACCGCGGCTGCCTGGCCTCC	0.706																																					p.C530F		.											.	.	0			c.G1589T						.						11	14	13					7																	100086933		2189	4294	6483	SO:0001583	missense	222950	exon4			GCGGCTGCCTGGC	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1589G>T	7.37:g.100086933G>T	ENSP00000300179:p.Cys530Phe	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	82	8	NM_173564	0	0	1	1	0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415821	0.42817	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.36699	1.24;1.24;1.25	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000031	T	0.24928	0.0605	N	0.14661	0.345	0.39515	D	0.968414	B;B	0.28713	0.22;0.22	B;B	0.25506	0.041;0.061	T	0.09250	-1.0683	10	0.46703	T	0.11	-12.2661	16.5573	0.84488	0.0:0.0:1.0:0.0	.	473;530	C9JS30;Q6ZVC0	.;CG051_HUMAN	F	530;530;473	ENSP00000300179:C530F;ENSP00000411861:C530F;ENSP00000394424:C473F	ENSP00000300179:C530F	C	+	2	0	C7orf51	99924869	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.307000	0.59123	2.508000	0.84585	0.561000	0.74099	TGC	.		0.706	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		T	100086933	G	T	100086933	3	4	52	1	0	0	0	0	1	0	0	0	2407	1319	46	3	1599	3	C7orf51	7	100086933	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	385641	100086933	59051730	257	10908											
PLOD3	8985	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100853911	100853911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcagggtatcaccccGgatcacataggcctgggaga	12	13	2	1	rs75592752	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:100853911G>A	ENST00000223127.3	-	13	1800	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	468					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	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 galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTATCACCCCGGATCACATAG	0.602																																					p.R468W		.											.	PLOD3-92	0			c.C1402T						.	G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	91	78	82		1402	2.4	0.6	7	dbSNP_131	82	0,8600		0,0,4300	no	missense	PLOD3	NM_001084.4	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	468/739	100853911	3,13003	2203	4300	6503	SO:0001583	missense	8985	exon13			CACCCCGGATCAC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1402C>T	7.37:g.100853911G>A	ENSP00000223127:p.Arg468Trp	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	132	57	NM_001084	0	0	82	197	115	B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879371	0.33162	6.81E-4	0.0	ENSG00000106397	ENST00000223127	D	0.89810	-2.57	4.52	2.44	0.29823	.	0.265512	0.25798	N	0.028229	D	0.88403	0.6427	L	0.50333	1.59	0.21105	N	0.999786	D;D	0.64830	0.994;0.986	P;P	0.51701	0.556;0.677	T	0.81514	-0.0898	10	0.87932	D	0	-8.5417	11.0058	0.47633	0.0:0.0:0.5662:0.4338	.	95;468	Q9UG85;O60568	.;PLOD3_HUMAN	W	468	ENSP00000223127:R468W	ENSP00000223127:R468W	R	-	1	2	PLOD3	100640631	0.196000	0.23350	0.624000	0.29186	0.001000	0.01503	0.928000	0.28831	0.915000	0.36847	-0.372000	0.07161	CGG	A|0.000;C|0.010;G|0.990		0.602	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			A	100853911	G	A	100853911	3	1	52	1	0	0	0	0	1	0	0	0	12142	1115	39	1	842	1	PLOD3	7	100853911	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	766978	100853911	58284752	258	10909											
PRKRIP1	79706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	102038071	102038071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaaatgttgcaggacaAagcagttccaattccagaga	9	7	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:102038071A>G	ENST00000496391.1	+	6	1441	c.131A>G	c.(130-132)aAa>aGa	p.K44R	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.K44R|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.K6R|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	44	Interaction with EIF2AK2. {ECO:0000250}.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TTGCAGGACAAAGCAGTTCCA	0.413																																					p.K44R		.											.	PRKRIP1-91	0			c.A131G						.						113	103	106					7																	102038071		2203	4300	6503	SO:0001583	missense	79706	exon2			AGGACAAAGCAGT	AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.131A>G	7.37:g.102038071A>G	ENSP00000419270:p.Lys44Arg	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	169	83	NM_024653	0	0	2	2	0	B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	ENST00000496391.1	37	CCDS34714.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.065734	0.76187	.	.	ENSG00000128563	ENST00000496391;ENST00000397912;ENST00000354783	T;T;T	0.50001	0.76;0.76;0.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.42686	1.345	0.80722	D	1	D;B	0.76494	0.999;0.41	D;P	0.83275	0.996;0.555	T	0.56251	-0.8010	10	0.31617	T	0.26	-16.6442	14.1876	0.65617	1.0:0.0:0.0:0.0	.	6;44	B4DGM2;Q9H875	.;PKRI1_HUMAN	R	44;44;6	ENSP00000419270:K44R;ENSP00000381010:K44R;ENSP00000346837:K6R	ENSP00000346837:K6R	K	+	2	0	PRKRIP1	101825076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.180000	0.77674	2.238000	0.73509	0.529000	0.55759	AAA	.		0.413	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653		G	102038071	A	G	102038071	3	3	52	1	0	0	0	0	1	0	0	0	12567	14	1	4	137	4	PRKRIP1	7	102038071	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1184160	102038071	57100592	259	10910											
ALKBH4	54784	bcgsc.ca	37	chr7	102098305	102098305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcactgctcgacgggccGgaagccctccagccccgggt	14	16	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:102098305G>A	ENST00000292566.3	-	3	484	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						TCGACGGGCCGGAAGCCCTCC	0.687																																					p.R149W		.											.	ALKBH4-90	0			c.C445T						.						25	26	26					7																	102098305		2202	4300	6502	SO:0001583	missense	54784	exon3			CGGGCCGGAAGCC	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.445C>T	7.37:g.102098305G>A	ENSP00000292566:p.Arg149Trp	Somatic	38	1		WXS	Illumina GAIIx	Phase_I	76	23	NM_017621	0	0	8	14	6	Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803748	0.70682	.	.	ENSG00000160993	ENST00000292566	T	0.48836	0.8	4.45	4.45	0.53987	.	0.599443	0.16196	N	0.225149	T	0.51024	0.1650	L	0.46157	1.445	0.40195	D	0.977441	D	0.71674	0.998	P	0.53722	0.733	T	0.52823	-0.8524	10	0.56958	D	0.05	-14.5705	9.7227	0.40313	0.1059:0.0:0.8941:0.0	.	149	Q9NXW9	ALKB4_HUMAN	W	149	ENSP00000292566:R149W	ENSP00000292566:R149W	R	-	1	2	ALKBH4	101885310	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	1.962000	0.40442	2.301000	0.77427	0.561000	0.74099	CGG	.		0.687	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		A	102098305	G	A	102098305	3	1	52	1	0	0	0	0	1	0	0	0	529	1115	39	1	467	1	ALKBH4	7	102098305	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	60234	102098305	57040358	260	10911											
PSMC2	5701	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	103006564	103006564	+	Frame_Shift_Del	DEL	A	A	-													ctctttgaaatggccagaacAaaaaaagcctgccttatctt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:103006564delA	ENST00000435765.1	+	10	1209	c.798delA	c.(796-798)acafs	p.T266fs	PSMC2_ENST00000292644.3_Frame_Shift_Del_p.T266fs|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Frame_Shift_Del_p.T129fs|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGGCCAGAACAAAAAAAGCCT	0.328																																					p.T266fs		.											.	PSMC2-90	0			c.798delA						.						116	126	122					7																	103006564		2203	4300	6503	SO:0001589	frameshift_variant	5701	exon9			CAGAACAAAAAAA	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.798delA	7.37:g.103006564delA	ENSP00000391211:p.Thr266fs	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	78	34	NM_002803	0	0	0	0	0	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Frame_Shift_Del	DEL	ENST00000435765.1	37	CCDS5731.1																																																																																			.		0.328	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		-	103006564	A	-	103006564	7	5	52	1	0	1	0	1	0	0	0	0	12728	117	5	0	832	0	PSMC2	7	103006564	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	908259	103006564	56132099	261	10912											
MLL5	55904	ucsc.edu;bcgsc.ca	37	chr7	104717504	104717504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgatatgaagaagcaaAtaacaaccagtacagtgagg	11	6	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:104717504A>G	ENST00000311117.3	+	10	1408	c.863A>G	c.(862-864)aAt>aGt	p.N288S	KMT2E_ENST00000334877.4_Missense_Mutation_p.N288S|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.N288S|KMT2E_ENST00000257745.4_Missense_Mutation_p.N288S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	288					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)										GAAGAAGCAAATAACAACCAG	0.398																																					p.N288S		.											.	MLL5-93	0			c.A863G						.						133	124	127					7																	104717504		2203	4300	6503	SO:0001583	missense	55904	exon9			AAGCAAATAACAA	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.863A>G	7.37:g.104717504A>G	ENSP00000312379:p.Asn288Ser	Somatic	222	3		WXS	Illumina GAIIx	Phase_I	350	151	NM_018682	0	0	5	14	9	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829256	0.32329	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95482	-2.77;-2.42;-2.77;-3.72;-3.19	6.07	4.92	0.64577	.	0.186699	0.56097	N	0.000028	D	0.87696	0.6242	N	0.10874	0.06	0.80722	D	1	B;B	0.15473	0.013;0.003	B;B	0.15870	0.014;0.003	T	0.80874	-0.1187	10	0.17832	T	0.49	.	9.236	0.37466	0.862:0.0:0.138:0.0	.	288;288	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	S	288;288;288;288;288;146;288;222	ENSP00000312379:N288S;ENSP00000335599:N288S;ENSP00000257745:N288S;ENSP00000419883:N146S;ENSP00000417888:N288S	ENSP00000257745:N288S	N	+	2	0	MLL5	104504740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.976000	0.49289	1.114000	0.41781	0.533000	0.62120	AAT	.		0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104717504	A	G	104717504	3	3	52	1	0	0	0	0	1	0	0	0	9662	101	4	4	893	4	MLL5	7	104717504	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1710940	104717504	54421159	262	10913											
SRPK2	6733	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	104767476	104767479	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													gtcttccccagaatgtggttCaaacaaataatctcccgttg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CAAA	CAAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:104767476_104767479delCAAA	ENST00000393651.3	-	14	1870_1873	c.1783_1786delTTTG	c.(1783-1788)tttgaafs	p.FE595fs	SRPK2_ENST00000489828.1_Frame_Shift_Del_p.FE584fs|SRPK2_ENST00000357311.3_Frame_Shift_Del_p.FE584fs	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GAATGTGGTTCAAACAAATAATCT	0.48																																					p.595_596del		.											.	SRPK2-805	0			c.1783_1786del						.																																			SO:0001589	frameshift_variant	6733	exon14			GTGGTTCAAACAA	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1783_1786delTTTG	7.37:g.104767480_104767483delCAAA	ENSP00000377262:p.Phe595fs	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	166	62	NM_182692	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000393651.3	37	CCDS34724.1																																																																																			.		0.48	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		-	104767479	CAAA	-	104767476	7	5	52	1	0	1	0	1	0	0	0	0	15207	835	29	0	325	0	SRPK2	7	104767476	Frame_Shift_Del	DEL	CAAA	TCGA-OR-A5LJ-01A-11D-A29I-10	49972	104767476	54371187	263	10914											
BCAP29	55973	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	107253834	107253834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcagtcagagagactttCgaaagaatatgatcaactcc	9	8	2	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:107253834C>T	ENST00000005259.4	+	7	986	c.647C>T	c.(646-648)tCg>tTg	p.S216L	BCAP29_ENST00000445771.2_Missense_Mutation_p.S216L|BCAP29_ENST00000465919.1_Missense_Mutation_p.S122L|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.S216L|BCAP29_ENST00000379121.2_Missense_Mutation_p.S122L|BCAP29_ENST00000379119.2_Missense_Mutation_p.S216L	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	216					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						GAGAGACTTTCGAAAGAATAT	0.333																																					p.S216L		.											.	BCAP29-136	0			c.C647T						.						80	80	80					7																	107253834		2203	4300	6503	SO:0001583	missense	55973	exon7			GACTTTCGAAAGA		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.647C>T	7.37:g.107253834C>T	ENSP00000005259:p.Ser216Leu	Somatic	208	1		WXS	Illumina GAIIx	Phase_I	232	101	NM_018844	0	0	39	72	33	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133052	0.56828	.	.	ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	T	0.44083	0.93	5.08	5.08	0.68730	.	0.637111	0.15674	N	0.250204	T	0.36166	0.0957	L	0.41824	1.3	0.37549	D	0.918627	B;B;B	0.26708	0.157;0.031;0.031	B;B;B	0.21151	0.033;0.005;0.007	T	0.36089	-0.9762	10	0.62326	D	0.03	-44.9992	13.8372	0.63417	0.0:1.0:0.0:0.0	.	216;216;216	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	L	216;122;216;216;216;216;173;122	ENSP00000368416:S122L	ENSP00000005259:S216L	S	+	2	0	BCAP29	107041070	0.995000	0.38212	0.981000	0.43875	0.914000	0.54420	2.496000	0.45346	2.643000	0.89663	0.555000	0.69702	TCG	.		0.333	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		T	107253834	C	T	107253834	3	4	52	1	0	0	0	0	1	0	0	0	1347	893	31	1	669	1	BCAP29	7	107253834	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2486358	107253834	51884829	264	10915											
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107820770	107820770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctaaagggctctagcccCggcaacatgccatgagtctt	11	12	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:107820770C>T	ENST00000425651.2	-	22	2747	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	NRCAM_ENST00000379024.4_Silent_p.P897P|NRCAM_ENST00000351718.4_Silent_p.P900P|NRCAM_ENST00000413765.2_Silent_p.P897P|NRCAM_ENST00000379022.4_Silent_p.P916P|NRCAM_ENST00000379028.3_Silent_p.P916P	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	916	Fibronectin type-III 3. {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						GCTCTAGCCCCGGCAACATGC	0.493																																					p.P916P		.											.	NRCAM-156	0			c.G2748A						.						99	86	90					7																	107820770		2203	4300	6503	SO:0001819	synonymous_variant	4897	exon22			TAGCCCCGGCAAC		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.2748G>A	7.37:g.107820770C>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	187	100	NM_001037132	0	0	24	35	11	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1																																																																																			.		0.493	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107820770	C	T	107820770	2	4	52	1	0	0	0	0	0	0	0	1	10683	639	23	1		1	NRCAM	7	107820770	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	566936	107820770	51317893	265	10916											
WNT16	51384	broad.mit.edu;bcgsc.ca	37	chr7	120971850	120971850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacaccaccttgcagaaCggcggctcagcaagtgaagg	13	11	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:120971850C>T	ENST00000222462.2	+	3	755	c.465C>T	c.(463-465)aaC>aaT	p.N155N	WNT16_ENST00000361301.2_Silent_p.N145N	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	155					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCTTGCAGAACGGCGGCTCAG	0.542																																					p.N155N		.											.	WNT16-1011	0			c.C465T						.						57	56	56					7																	120971850		2203	4300	6503	SO:0001819	synonymous_variant	51384	exon3			GCAGAACGGCGGC	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.465C>T	7.37:g.120971850C>T		Somatic	175	0		WXS	Illumina GAIIx	Phase_I	245	11	NM_057168	0	0	0	0	0	Q2M3G1|Q9Y5C0	Silent	SNP	ENST00000222462.2	37	CCDS5781.1																																																																																			.		0.542	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		T	120971850	C	T	120971850	2	4	52	1	0	0	0	0	0	0	0	1	17434	535	19	1		1	WNT16	7	120971850	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	13151080	120971850	38166813	266	10917											
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128843243	128843243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctccggaatgccccccGctgctgggcagtgatccagc	13	16	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:128843243G>A	ENST00000249373.3	+	2	630	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	117	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R117L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AATGCCCCCCGCTGCTGGGCA	0.652			Mis		skin basal cell																																p.R117H		.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO-2451	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G350A						.						15	13	14					7																	128843243		2163	4229	6392	SO:0001583	missense	6608	exon2			CCCCCCGCTGCTG	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.350G>A	7.37:g.128843243G>A	ENSP00000249373:p.Arg117His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	120	55	NM_005631	0	0	0	1	1	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045449	0.93685	.	.	ENSG00000128602	ENST00000249373	T	0.79845	-1.31	5.5	5.5	0.81552	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90551	0.4509	10	0.51188	T	0.08	.	16.9188	0.86158	0.0:0.0:1.0:0.0	.	117	Q99835	SMO_HUMAN	H	117	ENSP00000249373:R117H	ENSP00000249373:R117H	R	+	2	0	SMO	128630479	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.707000	0.98725	2.584000	0.87258	0.563000	0.77884	CGC	.		0.652	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		A	128843243	G	A	128843243	3	1	52	1	0	0	0	0	1	0	0	0	14845	1087	38	1	356	1	SMO	7	128843243	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7871393	128843243	30295420	267	10918											
TMEM209	84928	broad.mit.edu;bcgsc.ca	37	chr7	129832631	129832631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaacagtggtagggtaCggagaaggaggagaggggct	20	5	0	2	rs367746679		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:129832631C>T	ENST00000397622.2	-	6	728	c.606G>A	c.(604-606)ccG>ccA	p.P202P	TMEM209_ENST00000473456.1_Silent_p.P202P|TMEM209_ENST00000336804.8_Silent_p.P201P|TMEM209_ENST00000462753.1_Silent_p.P201P|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	202	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TGGTAGGGTACGGAGAAGGAG	0.408																																					p.P202P		.											.	TMEM209-92	0			c.G606A						.	C		0,3766		0,0,1883	92	90	91		606	-11.3	0	7		91	1,8209		0,1,4104	no	coding-synonymous	TMEM209	NM_032842.3		0,1,5987	TT,TC,CC		0.0122,0.0,0.0084		202/562	129832631	1,11975	1883	4105	5988	SO:0001819	synonymous_variant	84928	exon6			AGGGTACGGAGAA		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.606G>A	7.37:g.129832631C>T		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	207	8	NM_032842	0	0	18	18	0	A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Silent	SNP	ENST00000397622.2	37	CCDS47712.1																																																																																			.		0.408	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		T	129832631	C	T	129832631	2	4	52	1	0	0	0	0	0	0	0	1	16181	523	19	1		1	TMEM209	7	129832631	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	989388	129832631	29306032	268	10919											
AKR1D1	6718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	137761290	137761290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtgctgcaagtcaccGcatacctctaagtgatggaa	9	11	3	1	rs537010232		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:137761290G>A	ENST00000242375.3	+	1	68	c.26G>A	c.(25-27)cGc>cAc	p.R9H	AKR1D1_ENST00000432161.1_Missense_Mutation_p.R9H|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R9H	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	9					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GCAAGTCACCGCATACCTCTA	0.448													G|||	1	0.000199681	0	0	5008	,	,		19933	0.001		0	False		,,,				2504	0				p.R9H		.											.	AKR1D1-91	0			c.G26A						.						200	158	172					7																	137761290		2203	4300	6503	SO:0001583	missense	6718	exon1			GTCACCGCATACC	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.26G>A	7.37:g.137761290G>A	ENSP00000242375:p.Arg9His	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	165	87	NM_001190907	0	0	0	0	0	A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693858	0.48202	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.92	3.08	0.35506	NADP-dependent oxidoreductase domain (2);	0.494453	0.21660	N	0.071031	T	0.32852	0.0843	L	0.28192	0.835	0.41088	D	0.985571	B;B;B	0.21309	0.054;0.015;0.004	B;B;B	0.13407	0.009;0.002;0.002	T	0.06734	-1.0810	10	0.15499	T	0.54	.	6.927	0.24419	0.2126:0.0:0.7874:0.0	.	9;9;9	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	H	9	ENSP00000389197:R9H;ENSP00000402374:R9H;ENSP00000242375:R9H;ENSP00000397042:R9H	ENSP00000242375:R9H	R	+	2	0	AKR1D1	137411830	0.934000	0.31675	0.998000	0.56505	0.990000	0.78478	1.524000	0.35942	0.755000	0.32990	0.650000	0.86243	CGC	.		0.448	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		A	137761290	G	A	137761290	3	1	52	1	0	0	0	0	1	0	0	0	473	1087	38	1	28	1	AKR1D1	7	137761290	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7928659	137761290	21377373	269	10920											
JHDM1D	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139796487	139796487	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcctttgtaaacacgTggaatagtgcaaccctgcca	8	10	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:139796487T>A	ENST00000397560.2	-	17	2339	c.2242A>T	c.(2242-2244)Acg>Tcg	p.T748S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.T748S|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		748					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGTAAACACGTGGAATAGTGC	0.483																																					p.T748S		.											.	JHDM1D-91	0			c.A2242T						.						135	131	132					7																	139796487		1978	4163	6141	SO:0001583	missense	80853	exon17			AACACGTGGAATA																												ENST00000397560.2:c.2242A>T	7.37:g.139796487T>A	ENSP00000380692:p.Thr748Ser	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	192	75	NM_030647	0	0	1	1	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	T	3.116	-0.181681	0.06340	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.13307	2.84;2.6	5.85	-1.7	0.08159	.	0.605655	0.17790	N	0.161938	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41662	-0.9496	10	0.02654	T	1	-0.5527	4.7079	0.12858	0.1112:0.0625:0.3466:0.4797	.	748	Q6ZMT4	KDM7_HUMAN	S	748	ENSP00000380692:T748S;ENSP00000006967:T748S	ENSP00000006967:T748S	T	-	1	0	JHDM1D	139442956	0.742000	0.28228	0.092000	0.20876	0.943000	0.58893	-0.254000	0.08781	-0.163000	0.10946	0.460000	0.39030	ACG	.		0.483	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			A	139796487	T	A	139796487	3	1	52	1	0	0	0	0	1	0	0	0	7975	1696	59	5	599	5	JHDM1D	7	139796487	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	2035197	139796487	19342176	270	10921											
ZYX	7791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	143087734	143087734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccctggacggtcacGtgctctgtcggaagtgccac	12	15	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:143087734G>A	ENST00000322764.5	+	10	2023	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M	EPHA1_ENST00000458129.1_5'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.V473M|ZYX_ENST00000392910.2_Missense_Mutation_p.V403M	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	560	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)					GGACGGTCACGTGCTCTGTCG	0.612																																					p.V560M		.											.	ZYX-90	0			c.G1678A						.						94	71	79					7																	143087734		2202	4294	6496	SO:0001583	missense	7791	exon10			GGTCACGTGCTCT	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.1678G>A	7.37:g.143087734G>A	ENSP00000324422:p.Val560Met	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	180	17	NM_003461	0	0	174	198	24	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596291	0.66332	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.19	3.22	0.36961	Zinc finger, LIM-type (4);	0.088942	0.46442	U	0.000297	D	0.91375	0.7279	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.90904	0.4771	10	0.87932	D	0	.	6.8474	0.23996	0.0903:0.0:0.7344:0.1754	.	473;560	B4DQR8;Q15942	.;ZYX_HUMAN	M	560;528;473;403	ENSP00000324422:V560M;ENSP00000346417:V528M;ENSP00000394158:V473M;ENSP00000376642:V403M	ENSP00000324422:V560M	V	+	1	0	ZYX	142797856	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	5.381000	0.66208	2.052000	0.61016	0.305000	0.20034	GTG	.		0.612	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		A	143087734	G	A	143087734	3	1	52	1	0	0	0	0	1	0	0	0	18302	1145	40	1	1712	1	ZYX	7	143087734	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3291247	143087734	16050929	271	10922											
OR2A14	135941	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143826996	143826996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatggcccccaagtcccGccatcctgaggagcagcaga	11	15	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:143826996G>A	ENST00000408899.2	+	1	846	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCAAGTCCCGCCATCCTGAG	0.542																																					p.R264H		.											.	OR2A14-90	0			c.G791A						.						116	122	120					7																	143826996		1977	4168	6145	SO:0001583	missense	135941	exon1			AGTCCCGCCATCC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.791G>A	7.37:g.143826996G>A	ENSP00000386137:p.Arg264His	Somatic	187	1		WXS	Illumina GAIIx	Phase_I	224	85	NM_001001659	0	0	0	0	0	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	2.913	-0.224927	0.06022	.	.	ENSG00000221938	ENST00000408899	T	0.00115	8.71	4.18	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.28235	-1.0050	10	0.54805	T	0.06	0.4492	8.5452	0.33417	0.6459:0.1234:0.2307:0.0	.	264	Q96R47	O2A14_HUMAN	H	264	ENSP00000386137:R264H	ENSP00000386137:R264H	R	+	2	0	OR2A14	143457929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.642000	0.00863	-1.416000	0.02019	-1.077000	0.02231	CGC	.		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			A	143826996	G	A	143826996	3	1	52	1	0	0	0	0	1	0	0	0	11015	1087	38	1	793	1	OR2A14	7	143826996	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	739262	143826996	15311667	272	10923											
OR2A7	401427	hgsc.bcm.edu;broad.mit.edu	37	chr7	143955878	143955878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gataaggggattgagcatggGattaaagaggctgtgaaaca	15	3	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:143955878G>T	ENST00000493325.1	-	1	937	c.844C>A	c.(844-846)Ccc>Acc	p.P282T	OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TTGAGCATGGGATTAAAGAGG	0.423																																					p.P282T		.											.	OR2A7-23	0			c.C844A						.						47	52	50					7																	143955878		2202	4280	6482	SO:0001583	missense	401427	exon1			GCATGGGATTAAA		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.844C>A	7.37:g.143955878G>T	ENSP00000420502:p.Pro282Thr	Somatic	469	0		WXS	Illumina GAIIx	Phase_I	433	23	NM_001005328	0	0	1	1	0	B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.271982	0.40194	.	.	ENSG00000243896	ENST00000493325	T	0.00344	8.02	3.17	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01222	0.0040	H	0.96398	3.815	0.39083	D	0.960945	D	0.71674	0.998	D	0.77557	0.99	T	0.42344	-0.9457	9	0.87932	D	0	.	12.5872	0.56424	0.0:0.0:1.0:0.0	.	282	Q96R45	OR2A7_HUMAN	T	282	ENSP00000420502:P282T	ENSP00000420502:P282T	P	-	1	0	OR2A7	143586811	1.000000	0.71417	0.997000	0.53966	0.206000	0.24218	8.915000	0.92740	2.062000	0.61559	0.508000	0.49915	CCC	.		0.423	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			T	143955878	G	T	143955878	3	4	52	1	0	0	0	0	1	0	0	0	11021	1174	41	3	91	3	OR2A7	7	143955878	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	128882	143955878	15182785	273	10924											
NOBOX	135935	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	144096190	144096190	+	Frame_Shift_Del	DEL	G	G	-													caggtggggggctgaagagtGggggggtcaccaccctctga							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:144096190delG	ENST00000467773.1	-	8	1321	c.1322delC	c.(1321-1323)ccafs	p.P441fs	NOBOX_ENST00000223140.5_Frame_Shift_Del_p.P324fs|NOBOX_ENST00000483238.1_Frame_Shift_Del_p.P409fs	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	441	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P409fs*25(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCTGAAGAGTGGGGGGGTCAC	0.622																																					p.P441fs		.											.	NOBOX-69	1	Deletion - Frameshift(1)	large_intestine(1)	c.1322delC						.						12	13	13					7																	144096190		1790	3873	5663	SO:0001589	frameshift_variant	135935	exon8			AAGAGTGGGGGGG			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1322delC	7.37:g.144096190delG	ENSP00000419457:p.Pro441fs	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	89	49	NM_001080413	0	0	0	0	0	A6NCD3|A8MZN5	Frame_Shift_Del	DEL	ENST00000467773.1	37																																																																																				.		0.622	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		-	144096190	G	-	144096190	7	5	52	1	0	1	0	1	0	0	0	0	10551	1348	47	0	765	0	NOBOX	7	144096190	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	140312	144096190	15042473	274	10925											
SSPO	23145	broad.mit.edu	37	chr7	149474770	149474770	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggagccagcaccagcGtccctcggccacctgtgcct	11	18	1	0	rs374482349		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:149474770G>A	ENST00000378016.2	+	0	569							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)			CAGCACCAGCGTCCCTCGGCC	0.667																																					p.R190H		.											.	.	0			c.G569A						.	G	HIS/ARG	0,4102		0,0,2051	21	26	24		569	0.4	0.1	7		24	1,8349		0,1,4174	no	missense	SSPO	NM_198455.2	29	0,1,6225	AA,AG,GG		0.012,0.0,0.0080	benign	190/5148	149474770	1,12451	2051	4175	6226			23145	exon5			ACCAGCGTCCCTC	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.149474770G>A		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	73	3	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149474770	G	A	149474770	1	1	52	0	1	0	0	0	0	0	0	0	15236	1145	40	1		1	SSPO	7	149474770	RNA	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5378580	149474770	9663893	275	10926											
NOS3	4846	hgsc.bcm.edu;mdanderson.org	37	chr7	150706627	150706627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggaggacccgccggcGcccactgagcccgtggcagt	16	16	0	1	rs558767937		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:150706627G>A	ENST00000297494.3	+	20	2823	c.2466G>A	c.(2464-2466)gcG>gcA	p.A822A	NOS3_ENST00000461406.1_Silent_p.A616A|ATG9B_ENST00000494791.1_5'Flank	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)		ACCCGCCGGCGCCCACTGAGC	0.716													G|||	1	0.000199681	0	0	5008	,	,		9347	0		0	False		,,,				2504	0.001				p.A822A		.											.	NOS3-1011	0			c.G2466A						.						5	8	7					7																	150706627		1914	3733	5647	SO:0001819	synonymous_variant	4846	exon20			GCCGGCGCCCACT		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.2466G>A	7.37:g.150706627G>A		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	85	41	NM_000603	0	0	17	18	1	Q495E5	Silent	SNP	ENST00000297494.3	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	8.918	0.960319	0.18507	.	.	ENSG00000164867	ENST00000475017	.	.	.	5.53	-8.64	0.00874	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.51309	-0.8722	4	.	.	.	-7.2749	6.8246	0.23876	0.524:0.0:0.2917:0.1843	.	.	.	.	H	116	.	.	R	+	2	0	NOS3	150337560	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	-3.390000	0.00487	-1.715000	0.01389	-0.459000	0.05422	CGC	.		0.716	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		A	150706627	G	A	150706627	2	1	52	1	0	0	0	0	0	0	0	1	10583	1074	38	1		1	NOS3	7	150706627	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1231857	150706627	8432036	276	10927											
ABCF2	10061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150920935	150920935	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagcttctcacactccGctgtggacagtgtatggcca	10	13	1	1	rs138611892		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:150920935G>A	ENST00000287844.2	-	5	660	c.551C>T	c.(550-552)gCg>gTg	p.A184V	ABCF2_ENST00000222388.2_Splice_Site_p.A184V|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	184	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCACACTCCGCTGTGGACAG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		17793	0		0	False		,,,				2504	0				p.A184V		.											.	ABCF2-90	0			c.C551T						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	39	37	38		551,551	4.7	1	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	ABCF2	NM_005692.3,NM_007189.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	184/635,184/624	150920935	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10061	exon5			CACTCCGCTGTGG	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.551-1C>T	7.37:g.150920935G>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	95	40	NM_005692	0	0	0	0	0	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.16	3.319490	0.60524	0.0	1.16E-4	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.53	4.66	0.58398	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.147402	0.64402	D	0.000008	D	0.85292	0.5663	N	0.20483	0.58	0.80722	D	1	P;P	0.44260	0.83;0.83	B;B	0.33568	0.166;0.166	D	0.84438	0.0581	10	0.32370	T	0.25	.	13.5254	0.61593	0.0748:0.0:0.9252:0.0	.	184;184	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	V	184	ENSP00000222388:A184V;ENSP00000287844:A184V;ENSP00000419720:A184V;ENSP00000395785:A184V	ENSP00000222388:A184V	A	-	2	0	ABCF2	150551868	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.153000	0.94687	1.346000	0.45694	0.467000	0.42956	GCG	G|1.000;A|0.000		0.622	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692	Missense_Mutation	A	150920935	G	A	150920935	5	1	52	1	0	0	0	0	0	0	1	0	66	1101	38	1	1405	1	ABCF2	7	150920935	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	214308	150920935	8217728	277	10928											
RNF32	140545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	156469120	156469120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgccgcaggctctgcGccgggagacccacgagtgct	15	14	1	1	rs572104115		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr7:156469120G>A	ENST00000405335.1	+	10	1269	c.860G>A	c.(859-861)cGc>cAc	p.R287H	LMBR1_ENST00000430825.2_5'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.R287H|RNF32_ENST00000392743.2_Missense_Mutation_p.R287H|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.R287H|RNF32_ENST00000343665.4_Missense_Mutation_p.R263H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	287						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CAGGCTCTGCGCCGGGAGACC	0.627													G|||	1	0.000199681	0	0	5008	,	,		13621	0		0	False		,,,				2504	0.001				p.R287H		.											.	RNF32-226	0			c.G860A						.						36	36	36					7																	156469120		2203	4300	6503	SO:0001583	missense	140545	exon9			CTCTGCGCCGGGA		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.860G>A	7.37:g.156469120G>A	ENSP00000385285:p.Arg287His	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	176	94	NM_001184996	0	0	3	9	6	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	7.565	0.665471	0.14710	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000392743;ENST00000343665	T;T;T;T;T	0.22539	2.25;2.25;2.25;2.25;1.95	4.65	-0.418	0.12344	Zinc finger, RING/FYVE/PHD-type (1);	0.392106	0.30556	N	0.009371	T	0.07638	0.0192	N	0.02765	-0.5	0.19300	N	0.999979	B	0.10296	0.003	B	0.04013	0.001	T	0.34453	-0.9828	10	0.21540	T	0.41	-0.4351	11.1365	0.48377	0.3893:0.0:0.6107:0.0	.	287	Q9H0A6	RNF32_HUMAN	H	287;287;287;287;263	ENSP00000405588:R287H;ENSP00000315950:R287H;ENSP00000385285:R287H;ENSP00000376499:R287H;ENSP00000341185:R263H	ENSP00000315950:R287H	R	+	2	0	RNF32	156161881	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	-0.054000	0.11826	-0.358000	0.08162	-0.471000	0.05019	CGC	.		0.627	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		A	156469120	G	A	156469120	3	1	52	1	0	0	0	0	1	0	0	0	13533	1087	38	1	890	1	RNF32	7	156469120	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5548185	156469120	2669543	278	10929											
ANGPT2	285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	6371316	6371316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgctgattagtcagttgcGaaacaaactcatttcccagc	8	10	2	1	rs370206079		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:6371316G>A	ENST00000325203.5	-	7	1556	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.S309L|ANGPT2_ENST00000415216.1_Missense_Mutation_p.S360L|ANGPT2_ENST00000523120.1_Missense_Mutation_p.S360L			O15123	ANGP2_HUMAN	angiopoietin 2	361	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGTCAGTTGCGAAACAAACTC	0.353																																					p.S361L		.											.	ANGPT2-91	0			c.C1082T						.						102	105	104					8																	6371316		2203	4300	6503	SO:0001583	missense	285	exon7			AGTTGCGAAACAA	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1082C>T	8.37:g.6371316G>A	ENSP00000314897:p.Ser361Leu	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	56	45	NM_001147	0	0	7	7	0	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010087	0.75046	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.77620	2.1;2.1;2.1;-1.11	4.77	2.87	0.33458	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.113427	0.64402	D	0.000007	T	0.79805	0.4509	L	0.57536	1.79	0.51767	D	0.999939	P;D;P;P	0.56746	0.867;0.977;0.867;0.795	B;P;B;B	0.56514	0.236;0.8;0.169;0.261	T	0.77824	-0.2444	10	0.72032	D	0.01	.	6.9951	0.24779	0.0979:0.0:0.7324:0.1697	.	309;360;360;361	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	L	361;360;309;360	ENSP00000314897:S361L;ENSP00000400782:S360L;ENSP00000343517:S309L;ENSP00000428023:S360L	ENSP00000314897:S361L	S	-	2	0	ANGPT2	6358724	1.000000	0.71417	0.396000	0.26296	0.960000	0.62799	3.054000	0.49908	0.462000	0.27095	0.557000	0.71058	TCG	.		0.353	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		A	6371316	G	A	6371316	3	1	52	1	0	0	0	0	1	0	0	0	611	1059	37	1	420	1	ANGPT2	8	6371316	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10		6371316	139992706	279	10930											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_194284	0	0	0	2	2	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	52	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2189220	8560536	137803486	280	10931											
PDLIM2	64236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	22447189	22447189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaaaatcgcgagggacGggcggccccccgacagtcca	15	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:22447189G>A	ENST00000397760.4	+	8	1098	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	AC037459.4_ENST00000430850.2_Missense_Mutation_p.R27Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R233Q|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R233Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000265810.4_Missense_Mutation_p.R233Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R483Q			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	233						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CGCGAGGGACGGGCGGCCCCC	0.657																																					p.R483Q		.											.	PDLIM2-90	0			c.G1448A						.						19	20	20					8																	22447189		2199	4290	6489	SO:0001583	missense	64236	exon8			AGGGACGGGCGGC	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.698G>A	8.37:g.22447189G>A	ENSP00000380867:p.Arg233Gln	Somatic	295	2		WXS	Illumina GAIIx	Phase_I	183	152	NM_021630	0	0	1	30	29	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37		.	.	.	.	.	.	.	.	.	.	G	16.61	3.171921	0.57584	.	.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235;ENSG00000248235	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000409141;ENST00000265810;ENST00000409417;ENST00000450780;ENST00000430850	T;T;T;T;T;T;T;T;T;T	0.30182	1.74;3.54;2.6;2.6;2.6;2.6;2.6;2.67;2.6;1.54	5.16	3.34	0.38264	.	0.073529	0.56097	D	0.000037	T	0.16514	0.0397	L	0.41824	1.3	0.32131	N	0.586729	B;P;B;B	0.42357	0.41;0.777;0.168;0.059	B;B;B;B	0.26517	0.017;0.07;0.023;0.01	T	0.19353	-1.0308	10	0.13470	T	0.59	-22.2844	10.3648	0.44017	0.1643:0.0:0.8357:0.0	.	27;233;233;233	B3KPU0;Q96JY6-3;Q96JY6-4;Q96JY6	.;.;.;PDLI2_HUMAN	Q	233;483;233;233;233;233;233;233;233;61;27	ENSP00000401992:R233Q;ENSP00000312634:R483Q;ENSP00000394376:R233Q;ENSP00000380867:R233Q;ENSP00000342035:R233Q;ENSP00000380868:R233Q;ENSP00000386868:R233Q;ENSP00000265810:R233Q;ENSP00000387084:R233Q;ENSP00000428700:R27Q	ENSP00000428700:R27Q	R	+	2	0	AC037459.4;PDLIM2	22503134	0.654000	0.27367	0.440000	0.26846	0.543000	0.35085	3.285000	0.51716	1.319000	0.45190	0.558000	0.71614	CGG	.		0.657	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			A	22447189	G	A	22447189	3	1	52	1	0	0	0	0	1	0	0	0	11719	1116	39	1	724	1	PDLIM2	8	22447189	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	13886653	22447189	123916833	281	10932											
CDCA2	157313	bcgsc.ca	37	chr8	25365209	25365209	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaagggagagagctctctGactgccttggaaaggattga	16	6	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:25365209G>T	ENST00000330560.3	+	15	3504	c.3027G>T	c.(3025-3027)ctG>ctT	p.L1009L	CDCA2_ENST00000380665.3_Silent_p.L994L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1009					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)		AGAGCTCTCTGACTGCCTTGG	0.428																																					p.L1009L		.											.	CDCA2-90	0			c.G3027T						.						79	84	82					8																	25365209		2203	4300	6503	SO:0001819	synonymous_variant	157313	exon15			CTCTCTGACTGCC	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.3027G>T	8.37:g.25365209G>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_152562	0	0	7	7	0	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																			.		0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25365209	G	T	25365209	2	4	52	1	0	0	0	0	0	0	0	1	3093	1277	45	3		3	CDCA2	8	25365209	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2918020	25365209	120998813	282	10933											
CHRNA2	1135	bcgsc.ca	37	chr8	27328511	27328511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacactcacctgctgggGtcagaaggagccaccacagg	11	13	2	1	rs2472553	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:27328511G>A	ENST00000520933.2	-	1	218	c.65C>T	c.(64-66)aCc>aTc	p.T22I	CHRNA2_ENST00000240132.2_Missense_Mutation_p.T22I|CHRNA2_ENST00000407991.1_Missense_Mutation_p.T22I			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	22			T -> I (in dbSNP:rs2472553).		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ACCTGCTGGGGTCAGAAGGAG	0.542													G|||	1107	0.221046	0.1921	0.1945	5008	,	,		20986	0.4325		0.1372	False		,,,				2504	0.1472				p.T22I		.											.	CHRNA2-91	0			c.C65T						.	G	ILE/THR	810,3596	322.9+/-297.8	75,660,1468	78	69	72		65	-2.5	0	8	dbSNP_100	72	1125,7475	232.1+/-265.8	78,969,3253	yes	missense	CHRNA2	NM_000742.3	89	153,1629,4721	AA,AG,GG		13.0814,18.384,14.8777	benign	22/530	27328511	1935,11071	2203	4300	6503	SO:0001583	missense	1135	exon2			GCTGGGGTCAGAA	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.65C>T	8.37:g.27328511G>A	ENSP00000429616:p.Thr22Ile	Somatic	245	0		WXS	Illumina GAIIx	Phase_I	209	8	NM_000742	0	0	0	0	0	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	550	0.2518315018315018	93	0.18902439024390244	69	0.19060773480662985	291	0.5087412587412588	97	0.1279683377308707	G	0	-2.672280	0.00104	0.18384	0.130814	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712;ENST00000521921	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	4.42	-2.5	0.06384	.	3.327300	0.00649	N	0.000552	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36744	-0.9735	9	0.02654	T	1	.	5.1178	0.14845	0.4675:0.1607:0.3719:0.0	rs2472553;rs57302661;rs2472553	22;22	B4DK19;Q15822	.;ACHA2_HUMAN	I	22	ENSP00000385026:T22I;ENSP00000429616:T22I;ENSP00000240132:T22I;ENSP00000430422:T22I;ENSP00000430856:T22I;ENSP00000429953:T22I	ENSP00000240132:T22I	T	-	2	0	CHRNA2	27384428	0.793000	0.28825	0.004000	0.12327	0.072000	0.16883	0.305000	0.19254	-0.388000	0.07797	-0.794000	0.03295	ACC	G|0.819;A|0.181		0.542	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			A	27328511	G	A	27328511	3	1	52	1	0	0	0	0	1	0	0	0	3390	1261	44	3	1548	3	CHRNA2	8	27328511	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1963302	27328511	119035511	283	10934											
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	35608159	35608159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttttggacccctttgcGtgtcatgtgctcctggacag	11	12	1	0	rs145027081		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:35608159G>A	ENST00000404895.2	+	13	2323	c.1995G>A	c.(1993-1995)gcG>gcA	p.A665A	UNC5D_ENST00000416672.1_Silent_p.A670A|UNC5D_ENST00000453357.2_Silent_p.A660A|UNC5D_ENST00000287272.2_Silent_p.A596A|UNC5D_ENST00000449677.1_Silent_p.A241A|UNC5D_ENST00000420357.1_Silent_p.A598A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	665					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)		ACCCCTTTGCGTGTCATGTGC	0.488																																					p.A665A		.											.	UNC5D-96	0			c.G1995A						.						248	208	222					8																	35608159		2203	4300	6503	SO:0001819	synonymous_variant	137970	exon13			CTTTGCGTGTCAT	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.1995G>A	8.37:g.35608159G>A		Somatic	248	0		WXS	Illumina GAIIx	Phase_I	186	145	NM_080872	0	0	0	0	0	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			G|1.000;C|0.000		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35608159	G	A	35608159	2	1	52	1	0	0	0	0	0	0	0	1	17044	1132	40	1		1	UNC5D	8	35608159	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	8279648	35608159	110755863	284	10935											
BRF2	25960	broad.mit.edu;bcgsc.ca	37	chr8	37702689	37702689	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctctttgtcttccacGtatttggctggcacagaagg	9	10	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:37702689G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.Y193Y|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGTCTTCCACGTATTTGGCTG	0.498																																					p.Y193Y		.											.	BRF2-90	0			c.C579T						.						76	77	77					8																	37702689		2203	4300	6503	SO:0001628	intergenic_variant	55290	exon4			TTCCACGTATTTG	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		8.37:g.37702689G>A		Somatic	234	1		WXS	Illumina GAIIx	Phase_I	147	8	NM_018310	0	0	10	10	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.498	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			A	37702689	G	A	37702689	1	1	52	0	1	0	0	0	0	0	0	0	1515	1140	40	1		1	BRF2	8	37702689	IGR	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2094530	37702689	108661333	285	10936											
BAG4	9530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	38067995	38067995	+	Frame_Shift_Del	DEL	A	A	-													ggccatactggaaaaattagAaaaaaaaggattatgaaagg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:38067995delA	ENST00000287322.4	+	5	1629	c.1358delA	c.(1357-1359)gaafs	p.E453fs	BAG4_ENST00000432471.2_Frame_Shift_Del_p.E417fs	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	453	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GAAAAATTAGAAAAAAAAGGA	0.398																																					p.E453fs		.											.	BAG4-228	0			c.1358delA						.						28	32	31					8																	38067995		2181	4249	6430	SO:0001589	frameshift_variant	9530	exon5			AATTAGAAAAAAA	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1358delA	8.37:g.38067995delA	ENSP00000287322:p.Glu453fs	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	54	29	NM_004874	0	0	0	0	0	B4E217|O95818	Frame_Shift_Del	DEL	ENST00000287322.4	37	CCDS6104.1																																																																																			.		0.398	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		-	38067995	A	-	38067995	7	5	52	1	0	1	0	1	0	0	0	0	1290	246	9	0	1376	0	BAG4	8	38067995	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	365306	38067995	108296027	286	10937											
WHSC1L1	54904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	38162210	38162210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatactaacatgcttcCggccgcaatgcaagcatctc	10	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:38162210C>T	ENST00000317025.8	-	14	3023	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G836R|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G836R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	836					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)			AACATGCTTCCGGCCGCAATG	0.413			T	NUP98	AML																																p.G836R		.		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	WHSC1L1-658	0			c.G2506A						.						117	112	114					8																	38162210		1924	4143	6067	SO:0001583	missense	54904	exon14			TGCTTCCGGCCGC	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.2506G>A	8.37:g.38162210C>T	ENSP00000313983:p.Gly836Arg	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	57	45	NM_023034	0	0	0	1	1	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670063	0.67814	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.96459	-4.02;-4.02;-4.02	5.72	5.72	0.89469	Zinc finger, PHD-type (1);	0.000000	0.47455	U	0.000236	D	0.98074	0.9365	M	0.75085	2.285	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	0.98438	1.0585	10	0.87932	D	0	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	836;836;836	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	R	836;836;773;836	ENSP00000393284:G836R;ENSP00000313983:G836R;ENSP00000434730:G836R	ENSP00000313983:G836R	G	-	1	0	WHSC1L1	38281367	1.000000	0.71417	0.236000	0.24074	0.016000	0.09150	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	GGA	.		0.413	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		T	38162210	C	T	38162210	3	4	52	1	0	0	0	0	1	0	0	0	17412	661	23	1	1851	1	WHSC1L1	8	38162210	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	94215	38162210	108201812	287	10938											
HOOK3	84376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	42823193	42823193	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatctaaactagaaggtcaaGtagaatcttataaaaagaag	7	4	3	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:42823193G>C	ENST00000307602.4	+	11	1158	c.958G>C	c.(958-960)Gta>Cta	p.V320L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	320					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAAGGTCAAGTAGAATCTTA	0.333			T	RET	papillary thyroid																																p.V320L		.		Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	HOOK3-154	0			c.G958C						.						63	66	65					8																	42823193		2202	4300	6502	SO:0001583	missense	84376	exon11			GGTCAAGTAGAAT	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.958G>C	8.37:g.42823193G>C	ENSP00000305699:p.Val320Leu	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	153	27	NM_032410	0	0	4	4	0	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875527	0.51695	.	.	ENSG00000168172	ENST00000307602	T	0.16597	2.33	5.37	5.37	0.77165	.	0.131761	0.50627	D	0.000101	T	0.21921	0.0528	N	0.16166	0.38	0.50632	D	0.999886	D;P	0.54397	0.966;0.923	P;P	0.62885	0.908;0.669	T	0.03315	-1.1049	10	0.07644	T	0.81	-18.8304	19.0793	0.93175	0.0:0.0:1.0:0.0	.	320;320	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	L	320	ENSP00000305699:V320L	ENSP00000305699:V320L	V	+	1	0	HOOK3	42942350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.772000	0.98984	2.649000	0.89929	0.655000	0.94253	GTA	.		0.333	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		C	42823193	G	C	42823193	3	2	52	1	0	0	0	0	1	0	0	0	7311	1029	36	3	1000	3	HOOK3	8	42823193	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4660983	42823193	103540829	288	10939											
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	61743055	61743055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatttctttccaaaggcGgtggtcaagctaacgtacct	8	11	3	0	rs190548814	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:61743055G>A	ENST00000423902.2	+	15	4176	c.3697G>A	c.(3697-3699)Ggt>Agt	p.G1233S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1233					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)			TTCCAAAGGCGGTGGTCAAGC	0.418													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		21444	0		0	False		,,,				2504	0				p.G1233S		.											.	CHD7-141	0			c.G3697A						.	G	SER/GLY	28,3808		0,28,1890	115	110	112		3697	5.5	1	8		112	0,8262		0,0,4131	yes	missense	CHD7	NM_017780.3	56	0,28,6021	AA,AG,GG		0.0,0.7299,0.2314	probably-damaging	1233/2998	61743055	28,12070	1918	4131	6049	SO:0001583	missense	55636	exon15			AAAGGCGGTGGTC	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.3697G>A	8.37:g.61743055G>A	ENSP00000392028:p.Gly1233Ser	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	115	33	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	28.0	4.881269	0.91740	0.007299	0.0	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74947	-0.89	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	N	0.17248	0.465	0.80722	D	1	P	0.41420	0.749	B	0.34824	0.19	T	0.66504	-0.5907	10	0.66056	D	0.02	-16.2139	19.6762	0.95934	0.0:0.0:1.0:0.0	.	1233	Q9P2D1	CHD7_HUMAN	S	1233	ENSP00000392028:G1233S	ENSP00000307304:G1233S	G	+	1	0	CHD7	61905609	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.018000	0.88722	2.729000	0.93468	0.591000	0.81541	GGT	G|0.999;A|0.001		0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61743055	G	A	61743055	3	1	52	1	0	0	0	0	1	0	0	0	3337	1116	39	1	3751	1	CHD7	8	61743055	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	18919862	61743055	84620967	289	10940											
BHLHE22	27319	hgsc.bcm.edu	37	chr8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcctcgtcgccccTgggctgcttcgagccggctg	12	18	0	0	rs62519835	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4	5	4		185	2	1	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		A	65493532	T	A	65493532	3	1	52	1	0	0	0	0	1	0	0	0	1423	1580	55	5	187	5	BHLHE22	8	65493532	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	3750477	65493532	80870490	290	10941											
TRIM55	84675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	67049359	67049359	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgatggcatcgccatcctCgtgggcagcaacgatcgagt	13	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:67049359C>T	ENST00000315962.4	+	4	910	c.537C>T	c.(535-537)ctC>ctT	p.L179L	TRIM55_ENST00000350034.4_Silent_p.L179L|TRIM55_ENST00000276573.7_Silent_p.L179L|TRIM55_ENST00000353317.5_Silent_p.L179L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	179					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)			TCGCCATCCTCGTGGGCAGCA	0.512																																					p.L179L		.											.	TRIM55-230	0			c.C537T						.						100	84	89					8																	67049359		2203	4300	6503	SO:0001819	synonymous_variant	84675	exon4			CATCCTCGTGGGC	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.537C>T	8.37:g.67049359C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	92	19	NM_184086	0	0	0	0	0	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	CCDS6184.1																																																																																			.		0.512	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		T	67049359	C	T	67049359	2	4	52	1	0	0	0	0	0	0	0	1	16577	871	31	1		1	TRIM55	8	67049359	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1555827	67049359	79314663	291	10942											
CA3	761	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	86354416	86354416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagtcaagtatgcagCggaggtaagaggaactgcca	16	6	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:86354416C>T	ENST00000285381.2	+	3	430	c.347C>T	c.(346-348)gCg>gTg	p.A116V	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	116					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)	p.A116V(1)		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)	AAGTATGCAGCGGAGGTAAGA	0.483																																					p.A116V		.											.	CA3-514	1	Substitution - Missense(1)	large_intestine(1)	c.C347T						.						107	102	104					8																	86354416		2203	4300	6503	SO:0001583	missense	761	exon3			ATGCAGCGGAGGT	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.347C>T	8.37:g.86354416C>T	ENSP00000285381:p.Ala116Val	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	114	15	NM_005181	0	0	0	0	0	B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013202	0.75161	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.44881	0.91	5.96	5.96	0.96718	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.193052	0.53938	D	0.000048	T	0.63803	0.2542	M	0.81614	2.55	0.42033	D	0.991039	D	0.89917	1.0	P	0.61940	0.896	T	0.65606	-0.6127	9	.	.	.	-22.7218	15.0363	0.71751	0.0:0.7486:0.2513:0.0	.	116	P07451	CAH3_HUMAN	V	116;100	ENSP00000285381:A116V	.	A	+	2	0	CA3	86541668	0.113000	0.22115	0.880000	0.34516	0.469000	0.32828	0.642000	0.24735	2.832000	0.97577	0.655000	0.94253	GCG	.		0.483	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		T	86354416	C	T	86354416	3	4	52	1	0	0	0	0	1	0	0	0	2524	768	27	1	357	1	CA3	8	86354416	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	19305057	86354416	60009606	292	10943											
POP1	10940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	99146235	99146235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaagaaatactaaaggCgctttctggaatgtgtaaca	11	5	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:99146235C>T	ENST00000401707.2	+	6	875	c.794C>T	c.(793-795)gCg>gTg	p.A265V	POP1_ENST00000349693.3_Missense_Mutation_p.A265V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	265					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATACTAAAGGCGCTTTCTGGA	0.338																																					p.A265V		.											.	POP1-154	0			c.C794T						.						176	173	174					8																	99146235		2203	4300	6503	SO:0001583	missense	10940	exon6			TAAAGGCGCTTTC	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.794C>T	8.37:g.99146235C>T	ENSP00000385787:p.Ala265Val	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	140	66	NM_001145860	0	0	0	1	1	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183387	0.78677	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.36340	1.26;1.26	5.51	4.64	0.57946	.	0.202809	0.40818	N	0.001016	T	0.34077	0.0885	M	0.80183	2.485	0.43756	D	0.99626	P	0.37176	0.586	B	0.30855	0.121	T	0.15350	-1.0440	10	0.21540	T	0.41	-1.9912	8.6751	0.34174	0.159:0.7622:0.0:0.0788	.	265	Q99575	POP1_HUMAN	V	265	ENSP00000385787:A265V;ENSP00000339529:A265V	ENSP00000339529:A265V	A	+	2	0	POP1	99215411	0.841000	0.29509	1.000000	0.80357	0.795000	0.44927	1.592000	0.36676	1.334000	0.45468	0.313000	0.20887	GCG	.		0.338	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		T	99146235	C	T	99146235	3	4	52	1	0	0	0	0	1	0	0	0	12290	768	27	1	812	1	POP1	8	99146235	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	12791819	99146235	47217787	293	10944											
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	103297999	103297999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcaatataaatcaaaccCgctgaacttgctataaggaa	7	8	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:103297999C>T	ENST00000520539.1	-	39	5832	c.5226G>A	c.(5224-5226)gcG>gcA	p.A1742A	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Silent_p.A1742A|UBR5_ENST00000521922.1_Silent_p.A1736A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1742					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)			AAATCAAACCCGCTGAACTTG	0.423																																					p.A1742A	Ovarian(131;96 1741 5634 7352 27489)	.											.	UBR5-761	0			c.G5226A						.						46	46	46					8																	103297999		2203	4300	6503	SO:0001819	synonymous_variant	51366	exon39			CAAACCCGCTGAA	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.5226G>A	8.37:g.103297999C>T		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	75	33	NM_015902	0	0	0	2	2	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																			.		0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103297999	C	T	103297999	2	4	52	1	0	0	0	0	0	0	0	1	16954	639	23	1		1	UBR5	8	103297999	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4151764	103297999	43066023	294	10945											
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	106813889	106813889	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgaactggtgcatcggCgactgaggcatggcagtagt	15	8	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:106813889C>T	ENST00000407775.2	+	8	1829	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R258*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R395*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R395*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	527					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGCATCGGCGACTGAGGCA	0.468																																					p.R527X		.											.	ZFPM2-139	0			c.C1579T						.						92	94	93					8																	106813889		1942	4128	6070	SO:0001587	stop_gained	23414	exon8			CATCGGCGACTGA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1579C>T	8.37:g.106813889C>T	ENSP00000384179:p.Arg527*	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	54	27	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495973	0.97612	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.97	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9927	0.64376	0.2789:0.7211:0.0:0.0	.	.	.	.	X	527;395;395;258	.	ENSP00000367733:R258X	R	+	1	2	ZFPM2	106883065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.655000	0.67981	2.836000	0.97738	0.655000	0.94253	CGA	.		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106813889	C	T	106813889	4	4	52	1	0	0	0	0	0	1	0	0	17706	760	27	1	1609	1	ZFPM2	8	106813889	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3515890	106813889	39550133	295	10946											
TRPS1	7227	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	116616259	116616259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggactcatgcacactttcaTagtgaaagaggagtacatct	10	8	3	2	rs571137340		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:116616259T>C	ENST00000220888.5	-	3	2057	c.1898A>G	c.(1897-1899)tAt>tGt	p.Y633C	TRPS1_ENST00000395715.3_Missense_Mutation_p.Y646C|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y637C|TRPS1_ENST00000519076.1_Missense_Mutation_p.Y387C|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y633C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	633					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CACACTTTCATAGTGAAAGAG	0.507									Langer-Giedion syndrome				T|||	1	0.000199681	0	0	5008	,	,		18208	0		0	False		,,,				2504	0.001				p.Y646C		.											.	TRPS1-229	0			c.A1937G						.						88	84	85					8																	116616259		2034	4201	6235	SO:0001583	missense	7227	exon4	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	CTTTCATAGTGAA	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.1898A>G	8.37:g.116616259T>C	ENSP00000220888:p.Tyr633Cys	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	268	15	NM_014112	0	0	2	2	0	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	T	12.54	1.967506	0.34754	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.32241	-0.9914	10	0.87932	D	0	.	16.188	0.81967	0.0:0.0:0.0:1.0	.	637;633;646	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	C	646;633;387;637;633	ENSP00000379065:Y646C;ENSP00000220888:Y633C;ENSP00000428910:Y387C;ENSP00000428680:Y637C;ENSP00000429174:Y633C	ENSP00000220888:Y633C	Y	-	2	0	TRPS1	116685434	1.000000	0.71417	0.990000	0.47175	0.028000	0.11728	5.794000	0.69067	2.270000	0.75569	0.533000	0.62120	TAT	.		0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		C	116616259	T	C	116616259	3	2	52	1	0	0	0	0	1	0	0	0	16641	1406	49	4	1963	4	TRPS1	8	116616259	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	9802370	116616259	29747763	296	10947											
COLEC10	10584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	120101975	120101975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcatggcaaagtgggaCgcatggggccgaaaggtaac	16	7	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:120101975C>T	ENST00000332843.2	+	2	246	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	69	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CAAAGTGGGACGCATGGGGCC	0.418																																					p.R69C		.											.	COLEC10-229	0			c.C205T						.						128	110	116					8																	120101975		2203	4300	6503	SO:0001583	missense	10584	exon2			GTGGGACGCATGG	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.205C>T	8.37:g.120101975C>T	ENSP00000332723:p.Arg69Cys	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	270	18	NM_006438	0	0	0	0	0	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740768	0.49045	.	.	ENSG00000184374	ENST00000332843	D	0.94576	-3.46	5.91	5.91	0.95273	.	0.224065	0.45867	D	0.000323	D	0.95201	0.8444	M	0.78285	2.405	0.45867	D	0.998725	P	0.48640	0.913	P	0.47206	0.541	D	0.95105	0.8233	10	0.56958	D	0.05	-9.542	15.7986	0.78433	0.0:1.0:0.0:0.0	.	69	Q9Y6Z7	COL10_HUMAN	C	69	ENSP00000332723:R69C	ENSP00000332723:R69C	R	+	1	0	COLEC10	120171156	0.983000	0.35010	0.837000	0.33122	0.103000	0.19146	4.021000	0.57196	2.793000	0.96121	0.655000	0.94253	CGC	.		0.418	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			T	120101975	C	T	120101975	3	4	52	1	0	0	0	0	1	0	0	0	3717	536	19	1	211	1	COLEC10	8	120101975	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3485716	120101975	26262047	297	10948											
MAL2	114569	hgsc.bcm.edu	37	chr8	120220776	120220776	+	Splice_Site	DEL	G	G	-													cgtgtccttcccgccgccccGgggtcaccctgcccgccggc					rs398009582|rs71302978		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1	1	1	5008	,	,		6681	1		1	False		,,,				2504	1				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1	1	1			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del	-	120220776	G	-	120220776	8	5	52	1	0	1	0	1	0	0	1	0	9238	1116	39	0	67	0	MAL2	8	120220776	Splice_Site	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	118801	120220776	26143246	298	10949											
MTBP	27085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	121458716	121458716	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttgaaaagaagcatTagtgcttcaattaatccaga	6	9	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:121458716T>C	ENST00000305949.1	+	2	207	c.162T>C	c.(160-162)atT>atC	p.I54I	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	54					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)			AAAGAAGCATTAGTGCTTCAA	0.328																																					p.I54I		.											.	MTBP-228	0			c.T162C						.						146	147	147					8																	121458716		2203	4300	6503	SO:0001819	synonymous_variant	27085	exon2			AAGCATTAGTGCT		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.162T>C	8.37:g.121458716T>C		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	74	10	NM_022045	0	0	2	2	0	B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	CCDS6333.1																																																																																			.		0.328	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		C	121458716	T	C	121458716	2	2	52	1	0	0	0	0	0	0	0	1	9950	1742	61	4		4	MTBP	8	121458716	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1237940	121458716	24905306	299	10950											
FER1L6	654463	ucsc.edu;bcgsc.ca	37	chr8	125015418	125015418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcaggtaattttggaAacctgattgatggaggatcc	11	8	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:125015418A>G	ENST00000522917.1	+	13	1737	c.1531A>G	c.(1531-1533)Aac>Gac	p.N511D	FER1L6_ENST00000399018.1_Missense_Mutation_p.N511D|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	511						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)			TAATTTTGGAAACCTGATTGA	0.498																																					p.N511D		.											.	FER1L6-100	0			c.A1531G						.						118	106	109					8																	125015418		1903	4112	6015	SO:0001583	missense	654463	exon13			TTTGGAAACCTGA	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.1531A>G	8.37:g.125015418A>G	ENSP00000428280:p.Asn511Asp	Somatic	343	2		WXS	Illumina GAIIx	Phase_I	408	199	NM_001039112	0	0	0	0	0		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961475	0.53400	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83335	-1.71;-1.71	5.73	4.56	0.56223	.	0.222672	0.35013	U	0.003509	T	0.82162	0.4977	M	0.76002	2.32	0.35775	D	0.821246	B	0.22746	0.074	B	0.17979	0.02	T	0.82847	-0.0255	10	0.72032	D	0.01	.	12.7896	0.57526	0.8631:0.1369:0.0:0.0	.	511	Q2WGJ9	FR1L6_HUMAN	D	511	ENSP00000428280:N511D;ENSP00000381982:N511D	ENSP00000381982:N511D	N	+	1	0	FER1L6	125084599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	0.980000	0.38523	0.533000	0.62120	AAC	.		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		G	125015418	A	G	125015418	3	3	52	1	0	0	0	0	1	0	0	0	5837	14	1	4	1577	4	FER1L6	8	125015418	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	3556702	125015418	21348604	300	10951											
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133913766	133913766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaagaggtgcctgggaCgcgcgtgaccgggggccagc	20	11	0	3	rs201453011		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:133913766C>T	ENST00000220616.4	+	16	3642	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	TG_ENST00000377869.1_Missense_Mutation_p.T1201M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1201	Thyroglobulin type-1 10. {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)		GTGCCTGGGACGCGCGTGACC	0.637													C|||	1	0.000199681	0	0	5008	,	,		14997	0.001		0	False		,,,				2504	0				p.T1201M		.											.	TG-145	0			c.C3602T						.						33	36	35					8																	133913766		2203	4300	6503	SO:0001583	missense	7038	exon16			CTGGGACGCGCGT	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.3602C>T	8.37:g.133913766C>T	ENSP00000220616:p.Thr1201Met	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	210	106	NM_003235	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	3|3	0.0013736263736263737|0.0013736263736263737	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	15.67|15.67	2.901379|2.901379	0.52227|0.52227	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000220616	.|T;T	.|0.69926	.|-0.44;-0.44	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Thyroglobulin type-1 (5);	.|0.000000	.|0.64402	.|D	.|0.000008	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.91406|0.91406	3.205|3.205	0.35938|0.35938	D|D	0.832994|0.832994	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91436|0.91436	0.5170|0.5170	5|10	.|0.87932	.|D	.|0	.|.	16.3966|16.3966	0.83607|0.83607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1201	.|P01266	.|THYG_HUMAN	C|M	145|1201	.|ENSP00000367100:T1201M;ENSP00000220616:T1201M	.|ENSP00000220616:T1201M	R|T	+|+	1|2	0|0	TG|TG	133982948|133982948	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.024000|0.024000	0.10985|0.10985	5.609000|5.609000	0.67661|0.67661	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	CGC|ACG	C|0.999;T|0.001		0.637	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133913766	C	T	133913766	3	4	52	1	0	0	0	0	1	0	0	0	15860	536	19	1	3664	1	TG	8	133913766	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8898348	133913766	12450256	301	10952											
FAM135B	51059	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139164439	139164439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagtgagtgccacctccCgctcatcctcctcaaaaggt	7	15	2	1	rs371769088		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:139164439C>T	ENST00000395297.1	-	13	2449	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	760										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCCACCTCCCGCTCATCCTC	0.522										HNSCC(54;0.14)																											p.R760Q		.											.	FAM135B-31	0			c.G2279A						.	C	GLN/ARG	1,4377		0,1,2188	41	45	43		2279	3.9	0.8	8		43	1,8581		0,1,4290	no	missense	FAM135B	NM_015912.3	43	0,2,6478	TT,TC,CC		0.0117,0.0228,0.0154	probably-damaging	760/1407	139164439	2,12958	2189	4291	6480	SO:0001583	missense	51059	exon13			ACCTCCCGCTCAT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2279G>A	8.37:g.139164439C>T	ENSP00000378710:p.Arg760Gln	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	62	15	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338070	0.81911	2.28E-4	1.17E-4	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.64	3.86	0.44501	.	0.386553	0.24456	N	0.038373	T	0.15176	0.0366	L	0.58669	1.825	0.27858	N	0.940509	P;P;P	0.50066	0.931;0.761;0.553	B;B;B	0.36666	0.23;0.11;0.032	T	0.09862	-1.0655	10	0.32370	T	0.25	-9.8171	11.1415	0.48404	0.0:0.8526:0.0:0.1474	.	760;760;760	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Q	760	ENSP00000378710:R760Q	ENSP00000276737:R760Q	R	-	2	0	FAM135B	139233621	0.765000	0.28485	0.816000	0.32577	0.962000	0.63368	2.821000	0.48065	0.753000	0.32945	-0.136000	0.14681	CGG	.		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139164439	C	T	139164439	3	4	52	1	0	0	0	0	1	0	0	0	5468	652	23	1	1973	1	FAM135B	8	139164439	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5250673	139164439	7199583	302	10953											
TRAPPC9	83696	broad.mit.edu;bcgsc.ca	37	chr8	140898200	140898200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacactcgcctcgccactgCgcttcagggaggggtgagcc	13	16	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:140898200C>T	ENST00000438773.2	-	21	3111	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R984H|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R1091H|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	993					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						CTCGCCACTGCGCTTCAGGGA	0.612																																					p.R1091H		.											.	TRAPPC9-228	0			c.G3272A						.						24	24	24					8																	140898200		2196	4283	6479	SO:0001583	missense	83696	exon21			CCACTGCGCTTCA	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.2978G>A	8.37:g.140898200C>T	ENSP00000405060:p.Arg993His	Somatic	472	0		WXS	Illumina GAIIx	Phase_I	331	14	NM_031466	0	0	0	0	0	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328142	0.81690	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.71062	-0.4701	9	0.33940	T	0.23	.	17.0314	0.86462	0.0:1.0:0.0:0.0	.	993;1091	Q96Q05;Q96Q05-2	TPPC9_HUMAN;.	H	1091;984;993	.	ENSP00000373978:R984H	R	-	2	0	TRAPPC9	140967382	1.000000	0.71417	0.994000	0.49952	0.578000	0.36192	6.741000	0.74837	2.620000	0.88729	0.655000	0.94253	CGC	.		0.612	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		T	140898200	C	T	140898200	3	4	52	1	0	0	0	0	1	0	0	0	16513	768	27	1	480	1	TRAPPC9	8	140898200	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1733761	140898200	5465822	303	10954											
CYP11B1	1584	broad.mit.edu	37	chr8	143960582	143960582	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatcacacacaccatGcctgctcctcccaagtcgta	7	17	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:143960582G>C	ENST00000292427.4	-	2	293	c.261C>G	c.(259-261)ggC>ggG	p.G87G	CYP11B1_ENST00000517471.1_Silent_p.G87G|CYP11B1_ENST00000377675.3_Silent_p.G132G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	87					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CACACACCATGCCTGCTCCTC	0.632									Familial Hyperaldosteronism type I																												p.G87G		.											.	CYP11B1-94	0			c.C261G						.						166	128	141					8																	143960582		2203	4300	6503	SO:0001819	synonymous_variant	1584	exon2	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CACCATGCCTGCT	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.261C>G	8.37:g.143960582G>C		Somatic	197	0		WXS	Illumina GAIIx	Phase_I	115	4	NM_000497	0	0	4	4	0	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																			.		0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143960582	G	C	143960582	2	2	52	1	0	0	0	0	0	0	0	1	4154	1306	46	3		3	CYP11B1	8	143960582	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3062382	143960582	2403440	304	10955											
GRINA	2907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145066998	145066998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaccatcattggccgcGccaaggagtagccgagctcc	10	16	2	0	rs371899632		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:145066998G>A	ENST00000313269.5	+	7	1383	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	GRINA_ENST00000395068.4_Missense_Mutation_p.A369T	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	369						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)			CATTGGCCGCGCCAAGGAGTA	0.607																																					p.A369T		.											.	GRINA-90	0			c.G1105A						.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	105	66	79		1105,1105	4.9	1	8		79	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	GRINA	NM_000837.1,NM_001009184.1	58,58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	369/372,369/372	145066998	1,13003	2203	4299	6502	SO:0001583	missense	2907	exon7			GGCCGCGCCAAGG	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.1105G>A	8.37:g.145066998G>A	ENSP00000314380:p.Ala369Thr	Somatic	144	1		WXS	Illumina GAIIx	Phase_I	115	89	NM_001009184	1	0	3	407	403	B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.82|12.82	2.053475|2.053475	0.36181|0.36181	0.0|0.0	1.16E-4|1.16E-4	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000527194	T;T|.	0.23552|.	1.9;1.9|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.437967|.	0.24771|.	N|.	0.035722|.	T|T	0.54319|0.54319	0.1851|0.1851	L|L	0.28014|0.28014	0.82|0.82	0.38257|0.38257	D|D	0.941785|0.941785	P|.	0.44429|.	0.835|.	B|.	0.25405|.	0.06|.	T|T	0.58538|0.58538	-0.7619|-0.7619	10|6	0.14252|0.44086	T|T	0.57|0.13	-29.6673|-29.6673	13.5416|13.5416	0.61676|0.61676	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	369|.	Q7Z429|.	GRINA_HUMAN|.	T|H	369;369;350|181	ENSP00000314380:A369T;ENSP00000378507:A369T|.	ENSP00000314380:A369T|ENSP00000431217:R181H	A|R	+|+	1|2	0|0	GRINA|GRINA	145138986|145138986	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.914000|0.914000	0.54420|0.54420	2.501000|2.501000	0.45389|0.45389	2.556000|2.556000	0.86216|0.86216	0.585000|0.585000	0.79938|0.79938	GCC|CGC	.		0.607	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		A	145066998	G	A	145066998	3	1	52	1	0	0	0	0	1	0	0	0	6812	1087	38	1	1127	1	GRINA	8	145066998	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1106416	145066998	1297024	305	10956											
ZNF251	90987	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145947714	145947714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacaagagtggaactcCgacgaaaggctttgccgcac	12	11	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr8:145947714C>T	ENST00000292562.7	-	5	1606	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	444					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)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGTGGAACTCCGACGAAAGGC	0.493																																					p.R444Q		.											.	ZNF251-68	0			c.G1331A						.						70	80	77					8																	145947714		2185	4291	6476	SO:0001583	missense	90987	exon5			GAACTCCGACGAA	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1331G>A	8.37:g.145947714C>T	ENSP00000292562:p.Arg444Gln	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	70	63	NM_138367	0	0	1	9	8	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109063	0.20714	.	.	ENSG00000198169	ENST00000292562	T	0.35973	1.28	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12774	0.0310	N	0.16862	0.45	0.09310	N	1	P	0.41131	0.739	B	0.23716	0.048	T	0.06006	-1.0851	9	0.12430	T	0.62	-10.6708	3.544	0.07821	0.0:0.5726:0.2697:0.1576	.	444	Q9BRH9	ZN251_HUMAN	Q	444	ENSP00000292562:R444Q	ENSP00000292562:R444Q	R	-	2	0	ZNF251	145918523	0.000000	0.05858	0.730000	0.30809	0.983000	0.72400	-2.049000	0.01405	1.521000	0.48983	0.563000	0.77884	CGG	.		0.493	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		T	145947714	C	T	145947714	3	4	52	1	0	0	0	0	1	0	0	0	17844	652	23	1	688	1	ZNF251	8	145947714	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	880716	145947714	416308	306	10957											
WASH1	0	bcgsc.ca	37	chr9	14909	14909	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggctcctccgggcccCtcaccagccccaggtccttt	8	19	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:14909C>G								None (None upstream) : MIR1302-2 (12747 downstream)																							CTCCGGGCCCCTCACCAGCCC	0.637																																					p.E432D		.											.	.	0			c.G1296C						.						4	6	6					9																	14909		801	3300	4101	SO:0001628	intergenic_variant	100287171	exon11			GGGCCCCTCACCA																													9.37:g.14909C>G		Somatic	611	1		WXS	Illumina GAIIx	Phase_I	457	40	NM_182905	0	0	230	230	0		Missense_Mutation	SNP		37																																																																																				.	0	0.637									G	14909	C	G	14909	1	3	52	0	1	0	0	0	0	0	0	0	17304	680	24	3		3	WASH1	9	14909	IGR	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		14909	141198522	307	10958											
C9orf66	157983	hgsc.bcm.edu	37	chr9	214719	214719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatcgggaggccagttcCgcgctgggcccacgccctcc	13	17	0	0	rs115610637	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:214719C>T	ENST00000382387.2	-	1	1174	c.678G>A	c.(676-678)gcG>gcA	p.A226A	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	226	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGCCAGTTCCGCGCTGGGCC	0.801													C|||	65	0.0129792	0.0015	0.0115	5008	,	,		9667	0		0.0437	False		,,,				2504	0.0112				p.A226A		.											.	C9orf66-514	0			c.G678A						.	C		12,3136		0,12,1562	3	3	3		678	-2.7	0.1	9	dbSNP_132	3	227,6207		3,221,2993	no	coding-synonymous	C9orf66	NM_152569.2		3,233,4555	TT,TC,CC		3.5281,0.3812,2.4943		226/296	214719	239,9343	1574	3217	4791	SO:0001819	synonymous_variant	157983	exon1			CAGTTCCGCGCTG	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.678G>A	9.37:g.214719C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_152569	0	0	0	0	0	Q96NB0	Silent	SNP	ENST00000382387.2	37	CCDS6439.1																																																																																			C|0.983;T|0.017		0.801	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		T	214719	C	T	214719	2	4	52	1	0	0	0	0	0	0	0	1	2497	639	23	1		1	C9orf66	9	214719	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	199810	214719	140998712	308	10959											
SMARCA2	6595	hgsc.bcm.edu	37	chr9	2039777	2039791	+	In_Frame_Del	DEL	CAGCAGCAGCAGCAG	CAGCAGCAGCAGCAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs376509101|rs145170448|rs142219087|rs147609454|rs62639301	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CAGCAGCAGCAGCAG	CAGCAGCAGCAGCAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:2039777_2039791delCAGCAGCAGCAGCAG	ENST00000382203.1	+	4	876_890	c.667_681delCAGCAGCAGCAGCAG	c.(667-681)cagcagcagcagcagdel	p.QQQQQ233del	SMARCA2_ENST00000357248.2_In_Frame_Del_p.QQQQQ233del|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_In_Frame_Del_p.QQQQQ233del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.QQQQQ233del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	233	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagcagcagcagcagc	0.614																																					p.223_227del		.											.	SMARCA2-653	0			c.667_681del						.																																			SO:0001651	inframe_deletion	6595	exon4			CAGCAACAGCAGC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_681delCAGCAGCAGCAGCAG	9.37:g.2039777_2039791delCAGCAGCAGCAGCAG	ENSP00000371638:p.Gln233_Gln237del	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	141	48	NM_139045	0	0	0	0	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	CCDS34977.1																																																																																			-|0.500;CAG|0.500		0.614	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		-	2039791	CAGCAGCAGCAGCAG	-	2039777	7	5	52	1	0	1	0	1	0	0	0	0	14814	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAGCAGCAGCAGCAG	TCGA-OR-A5LJ-01A-11D-A29I-10	1825058	2039777	139173654	309	10960											
RFX3	5991	broad.mit.edu;bcgsc.ca	37	chr9	3263055	3263055	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgacgtgtatcttcgcagAgtctgggcaaaggcacttac	12	10	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:3263055A>C	ENST00000382004.3	-	14	1796	c.1485T>G	c.(1483-1485)acT>acG	p.T495T	RFX3_ENST00000358730.2_Silent_p.T495T|RFX3_ENST00000302303.1_Silent_p.T495T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	495					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATCTTCGCAGAGTCTGGGCAA	0.478																																					p.T495T		.											.	RFX3-93	0			c.T1485G						.						151	128	136					9																	3263055		2203	4300	6503	SO:0001819	synonymous_variant	5991	exon14			TCGCAGAGTCTGG	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1485T>G	9.37:g.3263055A>C		Somatic	206	0		WXS	Illumina GAIIx	Phase_I	225	9	NM_134428	0	0	1	1	0	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	CCDS6449.1																																																																																			.		0.478	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		C	3263055	A	C	3263055	2	2	52	1	0	0	0	0	0	0	0	1	13309	291	11	5		5	RFX3	9	3263055	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1223278	3263055	137950376	310	10961											
MPDZ	8777	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	13119542	13119542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgggtggcattacgaaCgtcttccccattcaccatta	7	12	3	0	rs202112833		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:13119542C>T	ENST00000319217.7	-	39	5585	c.5338G>A	c.(5338-5340)Gtt>Att	p.V1780I	MPDZ_ENST00000541093.1_Missense_Mutation_p.V14I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V1780I|MPDZ_ENST00000447879.1_Missense_Mutation_p.V1747I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V1780I|MPDZ_ENST00000538841.1_Missense_Mutation_p.V639I|MPDZ_ENST00000381015.4_Missense_Mutation_p.V1780I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V1794I|MPDZ_ENST00000536827.1_Missense_Mutation_p.V1747I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1780	PDZ 11. {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)		GCATTACGAACGTCTTCCCCA	0.398																																					p.V1780I		.											.	MPDZ-231	0			c.G5338A						.	C	ILE/VAL	0,3790		0,0,1895	161	157	158		5338	6	1	9		158	2,8246		0,2,4122	yes	missense	MPDZ	NM_003829.3	29	0,2,6017	TT,TC,CC		0.0242,0.0,0.0166	probably-damaging	1780/2042	13119542	2,12036	1895	4124	6019	SO:0001583	missense	8777	exon39			TACGAACGTCTTC	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.5338G>A	9.37:g.13119542C>T	ENSP00000320006:p.Val1780Ile	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	132	61	NM_003829	0	0	5	10	5	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.936895	0.73557	0.0	2.42E-4	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.54479	0.68;0.57;0.57;0.68;0.57;0.68;0.68;0.57;0.68;0.68;0.68	6.03	6.03	0.97812	PDZ/DHR/GLGF (4);	0.000000	0.42294	D	0.000727	T	0.64746	0.2626	L	0.46947	1.48	0.52501	D	0.999955	D;D;D;D;D;D;D;D	0.89917	1.0;0.994;0.976;1.0;1.0;1.0;0.999;0.976	D;P;P;D;D;D;D;P	0.91635	0.999;0.846;0.692;0.997;0.997;0.997;0.934;0.692	T	0.58736	-0.7584	10	0.30854	T	0.27	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	1747;639;485;1747;1660;1780;1780;473	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	I	1780;1780;1780;321;14;716;639;1747;1747;1780;1660;1794	ENSP00000320006:V1780I;ENSP00000439807:V1780I;ENSP00000370410:V1780I;ENSP00000415964:V321I;ENSP00000445259:V14I;ENSP00000444230:V716I;ENSP00000444717:V639I;ENSP00000444151:V1747I;ENSP00000415208:V1747I;ENSP00000370403:V1780I;ENSP00000446358:V1794I	ENSP00000320006:V1780I	V	-	1	0	MPDZ	13109542	1.000000	0.71417	0.960000	0.40013	0.356000	0.29392	6.052000	0.71080	2.861000	0.98227	0.655000	0.94253	GTT	.		0.398	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		T	13119542	C	T	13119542	3	4	52	1	0	0	0	0	1	0	0	0	9760	536	19	1	819	1	MPDZ	9	13119542	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	9856487	13119542	128093889	311	10962											
KIAA1797	54914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	20881923	20881923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaatggtgaatatgcctCgtgggatatatcactctgca	10	7	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:20881923C>T	ENST00000380249.1	+	22	2735	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	FOCAD_ENST00000605086.1_Missense_Mutation_p.R227C|FOCAD_ENST00000338382.6_Missense_Mutation_p.R791C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	791						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAATATGCCTCGTGGGATATA	0.373																																					p.R791C		.											.	.	0			c.C2371T						.						86	97	93					9																	20881923		2203	4300	6503	SO:0001583	missense	54914	exon22			ATGCCTCGTGGGA	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2371C>T	9.37:g.20881923C>T	ENSP00000369599:p.Arg791Cys	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	80	42	NM_017794	0	0	4	13	9	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079930	0.94050	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.09911	2.93;2.93	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00953	-1.1502	10	0.87932	D	0	-7.8485	20.1022	0.97879	0.0:1.0:0.0:0.0	.	791	Q5VW36	K1797_HUMAN	C	791	ENSP00000369599:R791C;ENSP00000344307:R791C	ENSP00000344307:R791C	R	+	1	0	KIAA1797	20871923	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.678000	0.84035	2.759000	0.94783	0.555000	0.69702	CGT	.		0.373	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		T	20881923	C	T	20881923	3	4	52	1	0	0	0	0	1	0	0	0	8285	884	31	1	2445	1	KIAA1797	9	20881923	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7762381	20881923	120331508	312	10963											
MTAP	4507	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	21854738	21854738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagaaagcttcatgttcCgcacctggggggcggatgtt	16	9	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:21854738C>T	ENST00000460874.2	+	6	835	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000380172.4_Missense_Mutation_p.R187C|MTAP_ENST00000580900.1_Missense_Mutation_p.R187C					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CTTCATGTTCCGCACCTGGGG	0.532																																					p.R187C		.											.	MTAP-651	2	Whole gene deletion(2)	lung(2)	c.C559T						.						77	76	76					9																	21854738		2203	4300	6503	SO:0001583	missense	4507	exon6			ATGTTCCGCACCT	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.610C>T	9.37:g.21854738C>T	ENSP00000461932:p.Arg204Cys	Somatic	142	3		WXS	Illumina GAIIx	Phase_I	217	42	NM_002451	0	0	14	17	3		Missense_Mutation	SNP	ENST00000460874.2	37		.	.	.	.	.	.	.	.	.	.	C	13.64	2.297555	0.40694	.	.	ENSG00000099810	ENST00000380172	T	0.53423	0.62	5.3	5.3	0.74995	Nucleoside phosphorylase domain (1);	0.062767	0.64402	D	0.000005	T	0.78175	0.4242	H	0.94886	3.595	0.80722	D	1	D;P	0.89917	1.0;0.761	D;B	0.87578	0.998;0.376	D	0.84788	0.0777	10	0.87932	D	0	-12.6136	17.7411	0.88407	0.0:1.0:0.0:0.0	.	204;187	B4DUC8;Q13126	.;MTAP_HUMAN	C	187	ENSP00000369519:R187C	ENSP00000347923:R19C	R	+	1	0	MTAP	21844738	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	4.305000	0.59110	2.491000	0.84063	0.655000	0.94253	CGC	.		0.532	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		T	21854738	C	T	21854738	3	4	52	1	0	0	0	0	1	0	0	0	9949	652	23	1	581	1	MTAP	9	21854738	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	972815	21854738	119358693	313	10964											
C9orf82	79886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	26842344	26842344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttcattagggctttaatCgctcttgccctcatctcaag	7	12	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:26842344C>T	ENST00000333916.5	-	6	1129	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A	CAAP1_ENST00000535437.1_Silent_p.A202A|CAAP1_ENST00000520187.1_3'UTR	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	347					apoptotic process (GO:0006915)												GGGCTTTAATCGCTCTTGCCC	0.428																																					p.A347A		.											.	.	0			c.G1041A						.						90	87	88					9																	26842344		2203	4300	6503	SO:0001819	synonymous_variant	79886	exon6			TTTAATCGCTCTT	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.1041G>A	9.37:g.26842344C>T		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	103	48	NM_024828	0	0	7	13	6	B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Silent	SNP	ENST00000333916.5	37	CCDS6516.1																																																																																			.		0.428	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		T	26842344	C	T	26842344	2	4	52	1	0	0	0	0	0	0	0	1	2506	871	31	1		1	C9orf82	9	26842344	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4987606	26842344	114371087	314	10965											
SMU1	55234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	33056173	33056173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttgtgtaaatgttgcttCgttaacaaaggaggaatggc	11	5	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:33056173C>T	ENST00000397149.3	-	9	1110	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	SMU1_ENST00000536631.1_Missense_Mutation_p.E193K	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AATGTTGCTTCGTTAACAAAG	0.343																																					p.E354K		.											.	SMU1-91	0			c.G1060A						.						95	82	86					9																	33056173		2203	4300	6503	SO:0001583	missense	55234	exon9			TTGCTTCGTTAAC	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1060G>A	9.37:g.33056173C>T	ENSP00000380336:p.Glu354Lys	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	85	41	NM_018225	0	0	39	68	29	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572318	0.65765	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.59364	0.27;0.27	5.56	5.56	0.83823	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	0.43233	0.1238	N	0.12182	0.205	0.80722	D	1	B;B;B	0.19073	0.033;0.026;0.033	B;B;B	0.19148	0.024;0.011;0.024	T	0.31861	-0.9928	10	0.52906	T	0.07	-27.1029	17.3679	0.87368	0.0:1.0:0.0:0.0	.	354;193;354	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	K	354;193	ENSP00000380336:E354K;ENSP00000443639:E193K	ENSP00000380336:E354K	E	-	1	0	SMU1	33046173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.494000	0.81503	2.774000	0.95407	0.655000	0.94253	GAA	.		0.343	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		T	33056173	C	T	33056173	3	4	52	1	0	0	0	0	1	0	0	0	14862	893	31	1	497	1	SMU1	9	33056173	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6213829	33056173	108157258	315	10966											
KIF24	347240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	34306345	34306345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataatattaatttctccacGacgtacctccctcatgccca	3	14	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:34306345G>A	ENST00000402558.2	-	2	742	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	KIF24_ENST00000345050.2_Missense_Mutation_p.R240C|KIF24_ENST00000379174.3_Missense_Mutation_p.R240C|KIF24_ENST00000379166.2_Missense_Mutation_p.R240C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	240	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)			ATTTCTCCACGACGTACCTCC	0.408																																					p.R240C		.											.	KIF24-22	0			c.C718T						.						199	194	196					9																	34306345		1833	4088	5921	SO:0001583	missense	347240	exon3			CTCCACGACGTAC	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.718C>T	9.37:g.34306345G>A	ENSP00000384433:p.Arg240Cys	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	123	8	NM_194313	0	0	0	0	0	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471195	0.84533	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.76060	-0.99;2.24;-0.99;2.24	5.83	5.83	0.93111	Kinesin, motor domain (4);	0.000000	0.44483	D	0.000448	D	0.89458	0.6721	M	0.89601	3.045	0.43118	D	0.994837	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	D	0.90836	0.4720	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	240;240	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	C	240	ENSP00000384433:R240C;ENSP00000368472:R240C;ENSP00000368464:R240C;ENSP00000340179:R240C	ENSP00000340179:R240C	R	-	1	0	KIF24	34296345	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.033000	0.76504	2.770000	0.95276	0.655000	0.94253	CGT	.		0.408	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			A	34306345	G	A	34306345	3	1	52	1	0	0	0	0	1	0	0	0	8319	1058	37	1	3432	1	KIF24	9	34306345	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1250172	34306345	106907086	316	10967											
UNC13B	10497	broad.mit.edu	37	chr9	35399222	35399222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtactgaaggagctctggCgcgtggtgatgaacacaatg	15	7	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:35399222C>T	ENST00000378495.3	+	33	4114	c.3892C>T	c.(3892-3894)Cgc>Tgc	p.R1298C	UNC13B_ENST00000396787.1_Missense_Mutation_p.R1310C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1298C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1298	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCTCTGGCGCGTGGTGAT	0.557																																					p.R1298C		.											.	UNC13B-157	0			c.C3892T						.						215	185	195					9																	35399222		2203	4300	6503	SO:0001583	missense	10497	exon33			CTCTGGCGCGTGG	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3892C>T	9.37:g.35399222C>T	ENSP00000367756:p.Arg1298Cys	Somatic	393	1		WXS	Illumina GAIIx	Phase_I	473	8	NM_006377	0	1	27	31	3	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766618	0.69878	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.74209	-0.82;-0.82;-0.82	6.08	3.15	0.36227	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.939;0.964	T	0.78902	-0.2021	10	0.87932	D	0	-16.9534	8.3479	0.32284	0.4042:0.5269:0.0:0.0689	.	1298;1298	F8W8M9;O14795	.;UN13B_HUMAN	C	1310;1298;1298;885	ENSP00000380006:R1310C;ENSP00000367756:R1298C;ENSP00000367757:R1298C	ENSP00000367756:R1298C	R	+	1	0	UNC13B	35389222	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.629000	0.24538	0.396000	0.25283	-0.182000	0.12963	CGC	C|1.000;T|0.000		0.557	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35399222	C	T	35399222	3	4	52	1	0	0	0	0	1	0	0	0	17034	768	27	1	4022	1	UNC13B	9	35399222	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1092877	35399222	105814209	317	10968											
RUSC2	9853	hgsc.bcm.edu;bcgsc.ca	37	chr9	35560687	35560688	+	Frame_Shift_Del	DEL	CT	CT	-													tggatggggagcccccctgaCtctgtgctggccgagctgag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:35560687_35560688delCT	ENST00000455600.1	+	10	4619_4620	c.4050_4051delCT	c.(4048-4053)gactctfs	p.S1351fs	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1351						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)			GCCCCCCTGACTCTGTGCTGGC	0.688																																					p.1350_1351del		.											.	RUSC2-91	0			c.4050_4051del						.																																			SO:0001589	frameshift_variant	9853	exon10			CCCTGACTCTGTG	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.4050_4051delCT	9.37:g.35560689_35560690delCT	ENSP00000393922:p.Ser1351fs	Somatic	53	1		WXS	Illumina GAIIx	Phase_I	69	31	NM_014806	0	0	0	0	0	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	CCDS35008.1																																																																																			.		0.688	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		-	35560688	CT	-	35560687	7	5	52	1	0	1	0	1	0	0	0	0	13796	564	20	0	4084	0	RUSC2	9	35560687	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LJ-01A-11D-A29I-10	161465	35560687	105652744	318	10969											
CEP78	84131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	80854984	80854984	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtcgtgttcctgcgataaGatacaaagatgtgaccttcc	9	9	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:80854984G>A	ENST00000424347.2	+	2	588	c.299G>A	c.(298-300)aGa>aAa	p.R100K	CEP78_ENST00000376597.4_Missense_Mutation_p.R100K|CEP78_ENST00000277082.5_Missense_Mutation_p.R100K|CEP78_ENST00000415759.2_Missense_Mutation_p.R100K|CEP78_ENST00000376598.2_Missense_Mutation_p.R100K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	100					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CCTGCGATAAGATACAAAGAT	0.343																																					p.R100K		.											.	CEP78-69	0			c.G299A						.						120	106	110					9																	80854984		1847	4097	5944	SO:0001583	missense	84131	exon2			CGATAAGATACAA	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.299G>A	9.37:g.80854984G>A	ENSP00000411284:p.Arg100Lys	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	105	9	NM_001098802	0	0	3	3	0	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.995788	0.74703	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.29917	1.57;1.75;1.55;1.57;1.56	5.61	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	M	0.76574	2.34	0.28506	N	0.913774	P;D;D;D	0.63880	0.935;0.988;0.993;0.984	B;P;P;P	0.60789	0.399;0.76;0.879;0.724	T	0.42396	-0.9454	10	0.32370	T	0.25	-15.457	12.104	0.53801	0.0:0.1288:0.7377:0.1335	.	13;100;100;100	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	K	100	ENSP00000411284:R100K;ENSP00000399286:R100K;ENSP00000365782:R100K;ENSP00000277082:R100K;ENSP00000365783:R100K	ENSP00000277082:R100K	R	+	2	0	CEP78	80044804	1.000000	0.71417	0.846000	0.33378	0.785000	0.44390	4.053000	0.57427	2.653000	0.90120	0.650000	0.86243	AGA	.		0.343	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		A	80854984	G	A	80854984	3	1	52	1	0	0	0	0	1	0	0	0	3269	942	33	3	305	3	CEP78	9	80854984	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	45294297	80854984	60358447	319	10970											
DAPK1	1612	broad.mit.edu;bcgsc.ca	37	chr9	90321154	90321154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggagaccccacgggcGctgcaccactaccggggccg	14	17	0	1	rs193150601	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:90321154G>A	ENST00000408954.3	+	26	3503	c.3168G>A	c.(3166-3168)gcG>gcA	p.A1056A	DAPK1_ENST00000472284.1_Silent_p.A1056A|DAPK1_ENST00000469640.2_Silent_p.A1081A|DAPK1_ENST00000358077.5_Silent_p.A1056A|DAPK1_ENST00000491893.1_Silent_p.A990A	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1056					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						CCCCACGGGCGCTGCACCACT	0.637									Chronic Lymphocytic Leukemia, Familial Clustering of				G|||	2	0.000399361	0.0015	0	5008	,	,		16512	0		0	False		,,,				2504	0				p.A1056A		.											.	DAPK1-359	0			c.G3168A						.	G		1,4113		0,1,2056	29	34	32		3168	2.9	1	9		32	0,8408		0,0,4204	no	coding-synonymous	DAPK1	NM_004938.2		0,1,6260	AA,AG,GG		0.0,0.0243,0.0080		1056/1431	90321154	1,12521	2057	4204	6261	SO:0001819	synonymous_variant	1612	exon26	Familial Cancer Database	Familial CLL	ACGGGCGCTGCAC	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.3168G>A	9.37:g.90321154G>A		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	327	15	NM_004938	0	0	2	2	0	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																			G|0.999;A|0.000		0.637	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		A	90321154	G	A	90321154	2	1	52	1	0	0	0	0	0	0	0	1	4244	1074	38	1		1	DAPK1	9	90321154	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9466170	90321154	50892277	320	10971											
SPTLC1	10558	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	94794822	94794822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctctgtttgttccacCgtgaccacaacccgaatgct	6	15	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:94794822C>T	ENST00000262554.2	-	15	1352	c.1347G>A	c.(1345-1347)acG>acA	p.T449T		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	449					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTGTTCCACCGTGACCACAA	0.567																																					p.T449T		.											.	SPTLC1-154	0			c.G1347A						.						162	132	142					9																	94794822		2203	4300	6503	SO:0001819	synonymous_variant	10558	exon15			TTCCACCGTGACC	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1347G>A	9.37:g.94794822C>T		Somatic	193	1		WXS	Illumina GAIIx	Phase_I	193	81	NM_006415	0	0	49	106	57	A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	CCDS6692.1																																																																																			.		0.567	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		T	94794822	C	T	94794822	2	4	52	1	0	0	0	0	0	0	0	1	15170	639	23	1		1	SPTLC1	9	94794822	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4473668	94794822	46418609	321	10972											
PTCH1	5727	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	98231105	98231105	+	Frame_Shift_Del	DEL	G	G	-													gagagtgtccacttcgtacaGgggggctcgaggcagtggag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:98231105delG	ENST00000331920.6	-	14	2477	c.2178delC	c.(2176-2178)cccfs	p.P726fs	PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P725fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P575fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P575fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P660fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P660fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P575fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	726					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.C727fs*11(3)|p.C726fs*11(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGTACAGGGGGGCTCGA	0.557																																					p.P726fs		.											.	PTCH1-3532	4	Insertion - Frameshift(4)	central_nervous_system(3)|skin(1)	c.2178delC						.						99	110	106					9																	98231105		2203	4300	6503	SO:0001589	frameshift_variant	5727	exon14			CGTACAGGGGGGC	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.2178delC	9.37:g.98231105delG	ENSP00000332353:p.Pro726fs	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	184	76	NM_000264	0	0	0	0	0	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	ENST00000331920.6	37	CCDS6714.1																																																																																			.		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		-	98231105	G	-	98231105	7	5	52	1	0	1	0	1	0	0	0	0	12772	987	35	0	2205	0	PTCH1	9	98231105	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3436283	98231105	42982326	322	10973											
C9orf30	91283	broad.mit.edu	37	chr9	103204598	103204598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctgcagagccccccGgaggaggagcccgaatacca	11	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:103204598G>A	ENST00000395067.2	+	2	649	c.378G>A	c.(376-378)ccG>ccA	p.P126P	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Silent_p.P126P|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.G16R|TMEFF1_ENST00000334943.6_Silent_p.P13P	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	126										endometrium(2)|lung(2)	4						AGAGCCCCCCGGAGGAGGAGC	0.582																																					p.P126P		.											.	.	0			c.G378A						.						43	46	45					9																	103204598		2203	4300	6503	SO:0001819	synonymous_variant	91283	exon2			CCCCCCGGAGGAG	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.378G>A	9.37:g.103204598G>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	77	5	NM_001198805	0	0	19	19	0	B2RC35|Q5T726|Q5T727|Q5T728	Silent	SNP	ENST00000395067.2	37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857666	0.17178	.	.	ENSG00000251349	ENST00000502978	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.43389	0.1245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60850	-0.7181	4	.	.	.	-2.3523	6.9255	0.24412	0.2673:0.4864:0.0713:0.175	.	.	.	.	R	16	.	.	G	+	1	0	C9orf30-TMEFF1	102244419	0.000000	0.05858	0.002000	0.10522	0.937000	0.57800	-3.279000	0.00529	-4.279000	0.00059	-0.878000	0.02970	GGA	.		0.582	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		A	103204598	G	A	103204598	2	1	52	1	0	0	0	0	0	0	0	1	2485	1103	39	1		1	C9orf30	9	103204598	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4973493	103204598	38008833	323	10974											
C9orf4	23732	broad.mit.edu	37	chr9	111909469	111909469	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcctggtttgccataTctagaagagatatcgaaaga	9	7	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:111909469T>C	ENST00000561981.2	-	3	476	c.477A>G	c.(475-477)agA>agG	p.R159R		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	159						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											GTTTGCCATATCTAGAAGAGA	0.413																																					p.R159R		.											.	.	0			c.A477G						.						120	110	114					9																	111909469		2203	4300	6503	SO:0001630	splice_region_variant	23732	exon3			GCCATATCTAGAA	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"chromosome 9 open reading frame 4"	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.477-1A>G	9.37:g.111909469T>C		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	146	4	NM_014334	0	0	0	0	0	Q5T4G4	Silent	SNP	ENST00000561981.2	37	CCDS35098.1																																																																																			.		0.413	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334	Silent	C	111909469	T	C	111909469	5	2	52	1	0	0	0	0	0	0	1	0	2487	1449	50	4	569	4	C9orf4	9	111909469	Splice_Site	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	8704871	111909469	29303962	324	10975											
MUSK	4593	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	113562990	113562990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtccattttttataacCgctacactacagagtctgat	6	10	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:113562990C>T	ENST00000374448.4	+	15	2466	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	MUSK_ENST00000416899.2_Missense_Mutation_p.R770C|MUSK_ENST00000189978.5_Missense_Mutation_p.R778C	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R778C(1)|p.R778S(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						TTTTTATAACCGCTACACTAC	0.512																																					p.R778C		.											.	MUSK-1379	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2332T						.						86	84	85					9																	113562990		1957	4147	6104	SO:0001583	missense	4593	exon14			TATAACCGCTACA	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.2332C>T	9.37:g.113562990C>T	ENSP00000363571:p.Arg778Cys	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	209	90	NM_005592	0	0	0	0	0	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549601	0.86127	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.83250	-1.7	5.32	5.32	0.75619	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	0.90772	0.7103	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91474	0.5199	10	0.87932	D	0	.	18.355	0.90355	0.0:1.0:0.0:0.0	.	778	O15146	MUSK_HUMAN	C	784;778;778;692;692;776	ENSP00000363571:R778C	ENSP00000189978:R784C	R	+	1	0	MUSK	112602811	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.772000	0.85439	2.636000	0.89361	0.557000	0.71058	CGC	.		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	113562990	C	T	113562990	3	4	52	1	0	0	0	0	1	0	0	0	10027	652	23	1	2422	1	MUSK	9	113562990	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1653521	113562990	27650441	325	10976											
ASTN2	23245	broad.mit.edu	37	chr9	119625887	119625887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccgaggaatccacctgcCggtcagacacacacttgaag	9	14	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:119625887C>T	ENST00000313400.4	-	11	2115	c.2015G>A	c.(2014-2016)cGg>cAg	p.R672Q	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R668Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.R621Q			O75129	ASTN2_HUMAN	astrotactin 2	672	EGF-like 2.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATCCACCTGCCGGTCAGACAC	0.587																																					p.R621Q		.											.	ASTN2-161	0			c.G1862A						.						105	91	96					9																	119625887		2203	4300	6503	SO:0001583	missense	23245	exon10			ACCTGCCGGTCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2015G>A	9.37:g.119625887C>T	ENSP00000314038:p.Arg672Gln	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	154	5	NM_014010	0	0	0	0	0	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.317082	0.81469	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.14391	2.68;2.68;2.51;2.72	5.71	5.71	0.89125	.	0.064028	0.64402	D	0.000008	T	0.29223	0.0727	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.83275	0.996;0.901;0.996	T	0.00706	-1.1601	9	.	.	.	-23.6129	19.8381	0.96666	0.0:1.0:0.0:0.0	.	621;672;668	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Q	672;668;395;621	ENSP00000314038:R672Q;ENSP00000363108:R668Q;ENSP00000363098:R395Q;ENSP00000354504:R621Q	.	R	-	2	0	ASTN2	118665708	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.452000	0.80683	2.690000	0.91761	0.655000	0.94253	CGG	.		0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119625887	C	T	119625887	3	4	52	1	0	0	0	0	1	0	0	0	1066	652	23	1	2288	1	ASTN2	9	119625887	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6062897	119625887	21587544	326	10977											
DBC1	1620	ucsc.edu;bcgsc.ca	37	chr9	121929614	121929614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgccctgtgtgtaggaCtggttgacctgctgcactgc	14	12	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:121929614C>T	ENST00000265922.3	-	8	2495	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	678					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTGTGTAGGACTGGTTGACCT	0.557																																					p.Q678Q		.											.	DBC1-582	0			c.G2034A						.						161	150	154					9																	121929614		2203	4300	6503	SO:0001819	synonymous_variant	1620	exon8			GTAGGACTGGTTG	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2034G>A	9.37:g.121929614C>T		Somatic	228	3		WXS	Illumina GAIIx	Phase_I	269	97	NM_014618	0	0	1	1	0	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	CCDS6822.1																																																																																			.		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	121929614	C	T	121929614	2	4	52	1	0	0	0	0	0	0	0	1	4256	564	20	3		3	DBC1	9	121929614	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2303727	121929614	19283817	327	10978											
PSMD5	5711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	123586958	123586958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttccaaaaaacttcaCgaatcctaaagagatttaca	5	9	1	1	rs149552567		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:123586958C>T	ENST00000210313.3	-	7	894	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.V231M	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	274					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)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AAAAACTTCACGAATCCTAAA	0.383																																					p.V274M		.											.	PSMD5-90	0			c.G820A						.	C	MET/VAL	1,4405		0,1,2202	54	57	56		820	6.2	1	9	dbSNP_134	56	0,8600		0,0,4300	no	missense	PSMD5	NM_005047.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	274/505	123586958	1,13005	2203	4300	6503	SO:0001583	missense	5711	exon7			ACTTCACGAATCC	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.820G>A	9.37:g.123586958C>T	ENSP00000210313:p.Val274Met	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	64	33	NM_005047	0	0	0	0	0	B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022359	0.35701	2.27E-4	0.0	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.29397	1.57;1.57	6.17	6.17	0.99709	Armadillo-type fold (1);	0.056242	0.64402	D	0.000001	T	0.30916	0.0780	L	0.45051	1.395	0.58432	D	0.999998	D;D	0.53745	0.962;0.962	P;P	0.46144	0.481;0.505	T	0.01583	-1.1319	10	0.14656	T	0.56	.	15.0188	0.71613	0.0:0.9306:0.0:0.0694	.	231;274	B4DZM8;Q16401	.;PSMD5_HUMAN	M	274;231;45	ENSP00000210313:V274M;ENSP00000363011:V231M	ENSP00000210313:V274M	V	-	1	0	PSMD5	122626779	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.574000	0.60900	2.941000	0.99782	0.655000	0.94253	GTG	C|1.000;T|0.000		0.383	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		T	123586958	C	T	123586958	3	4	52	1	0	0	0	0	1	0	0	0	12743	536	19	1	710	1	PSMD5	9	123586958	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1657344	123586958	17626473	328	10979											
DAB2IP	153090	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	124519406	124519406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggtggtcatcaagccCgtgcacagcagcatccttgg	13	11	2	1	rs35510547	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:124519406C>T	ENST00000408936.3	+	4	659	c.477C>T	c.(475-477)ccC>ccT	p.P159P	DAB2IP_ENST00000309989.1_Silent_p.P35P|DAB2IP_ENST00000259371.2_Silent_p.P131P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	159	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCATCAAGCCCGTGCACAGCA	0.647																																					p.P131P		.											.	DAB2IP-91	0			c.C393T						.						161	123	136					9																	124519406		2203	4300	6503	SO:0001819	synonymous_variant	153090	exon4			CAAGCCCGTGCAC	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.477C>T	9.37:g.124519406C>T		Somatic	330	1		WXS	Illumina GAIIx	Phase_I	376	165	NM_032552	0	0	0	0	0	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																				C|0.994;G|0.006		0.647	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124519406	C	T	124519406	2	4	52	1	0	0	0	0	0	0	0	1	4228	639	23	1		1	DAB2IP	9	124519406	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	932448	124519406	16694025	329	10980											
HSPA5	3309	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	127998973	127998973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaatttcttccagttcCttcttcttagctttgaagtc	5	10	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:127998973C>A	ENST00000324460.6	-	8	2066	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTCCAGTTCCTTCTTCTTAG	0.423										Prostate(1;0.17)																											p.K621N		.											.	HSPA5-230	0			c.G1863T						.						106	100	102					9																	127998973		2203	4300	6503	SO:0001583	missense	3309	exon8			CAGTTCCTTCTTC		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1863G>T	9.37:g.127998973C>A	ENSP00000324173:p.Lys621Asn	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	140	8	NM_005347	0	1	570	593	22	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084760	0.76642	.	.	ENSG00000044574	ENST00000324460	T	0.18338	2.22	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.72576	2.205	0.80722	D	1	D	0.53885	0.963	P	0.55260	0.772	T	0.15206	-1.0445	10	0.87932	D	0	-19.9514	18.0542	0.89358	0.0:1.0:0.0:0.0	.	621	P11021	GRP78_HUMAN	N	621	ENSP00000324173:K621N	ENSP00000324173:K621N	K	-	3	2	HSPA5	127038794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.348000	0.33987	2.587000	0.87381	0.585000	0.79938	AAG	.		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			A	127998973	C	A	127998973	3	1	52	1	0	0	0	0	1	0	0	0	7441	680	24	3	105	3	HSPA5	9	127998973	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3479567	127998973	13214458	330	10981											
TTC16	158248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	130479967	130479967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgacttctcctcggcCgcccagaacctgcgaagggc	11	16	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:130479967C>T	ENST00000373289.3	+	4	422	c.342C>T	c.(340-342)gcC>gcT	p.A114A	PTRH1_ENST00000423807.1_5'Flank|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	114										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTCCTCGGCCGCCCAGAACC	0.617																																					p.A114A		.											.	TTC16-90	0			c.C342T						.						68	64	66					9																	130479967		2203	4300	6503	SO:0001819	synonymous_variant	158248	exon4			CTCGGCCGCCCAG	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.342C>T	9.37:g.130479967C>T		Somatic	190	1		WXS	Illumina GAIIx	Phase_I	197	90	NM_144965	0	0	0	0	0	B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	CCDS6875.1																																																																																			.		0.617	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		T	130479967	C	T	130479967	2	4	52	1	0	0	0	0	0	0	0	1	16732	639	23	1		1	TTC16	9	130479967	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2480994	130479967	10733464	331	10982											
FPGS	2356	hgsc.bcm.edu	37	chr9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtctgcgcgcggcAtaacgacccaggtcgcggcg	16	15	1	0	rs11554717|rs10760502	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_5'Flank|FPGS_ENST00000373245.1_Missense_Mutation_p.I22V|FPGS_ENST00000393706.2_Missense_Mutation_p.I22V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		.											.	FPGS-90	0			c.A64G						.		VAL/ILE	2249,281		997,255,13	1	3	2		64	1.8	0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_004957	0	0	0	2	2	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.235;G|0.765		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130565267	A	G	130565267	3	3	52	1	0	0	0	0	1	0	0	0	6060	217	8	4	66	4	FPGS	9	130565267	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	85300	130565267	10648164	332	10983											
BAT2L1	84726	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	134340407	134340407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcagagaaggaagtgccCtggtctccaagtgctgagaa	14	9	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:134340407C>A	ENST00000357304.4	+	11	1717	c.1662C>A	c.(1660-1662)ccC>ccA	p.P554P	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.P554P|PRRC2B_ENST00000405995.1_Silent_p.P554P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	554							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAAGTGCCCTGGTCTCCAA	0.607																																					p.P554P		.											.	PRRC2B-24	0			c.C1662A						.						50	59	56					9																	134340407		2050	4191	6241	SO:0001819	synonymous_variant	84726	exon11			AGTGCCCTGGTCT	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1662C>A	9.37:g.134340407C>A		Somatic	265	0		WXS	Illumina GAIIx	Phase_I	293	18	NM_013318	0	0	9	9	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																			.		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134340407	C	A	134340407	2	1	52	1	0	0	0	0	0	0	0	1	1321	668	24	3		3	BAT2L1	9	134340407	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3775140	134340407	6873024	333	10984											
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	137623934	137623934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattggaggacctcggggCgagaaaggccaaaagggaga	17	7	0	3	rs576332528		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:137623934C>T	ENST00000371817.3	+	9	1764	c.1350C>T	c.(1348-1350)ggC>ggT	p.G450G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCTCGGGGCGAGAAAGGCC	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		16133	0		0	False		,,,				2504	0				p.G450G		.											.	COL5A1-524	0			c.C1350T						.						112	101	104					9																	137623934		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon9			TCGGGGCGAGAAA	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.1350C>T	9.37:g.137623934C>T		Somatic	160	1		WXS	Illumina GAIIx	Phase_I	177	68	NM_000093	0	0	3	5	2	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137623934	C	T	137623934	2	4	52	1	0	0	0	0	0	0	0	1	3703	755	27	1		1	COL5A1	9	137623934	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3283527	137623934	3589497	334	10985											
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	137716657	137716657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagcagaaccccgcccGcacctgcaaggacctgcagc	10	19	0	1	rs199998065		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:137716657G>A	ENST00000371817.3	+	62	5324	c.4910G>A	c.(4909-4911)cGc>cAc	p.R1637H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1637	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACCCCGCCCGCACCTGCAAG	0.652																																					p.R1637H		.											.	COL5A1-524	0			c.G4910A						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	37	37	37		4910	4.2	1	9		37	2,8598	2.2+/-6.3	0,2,4298	no	missense	COL5A1	NM_000093.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1637/1839	137716657	3,13003	2203	4300	6503	SO:0001583	missense	1289	exon62			CCGCCCGCACCTG	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.4910G>A	9.37:g.137716657G>A	ENSP00000360882:p.Arg1637His	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	173	85	NM_000093	0	0	7	12	5	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221527	0.79464	2.27E-4	2.33E-4	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.79352	-1.26	4.16	4.16	0.48862	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000002	D	0.92231	0.7536	H	0.97365	3.99	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	D	0.95365	0.8459	10	0.87932	D	0	.	16.9814	0.86328	0.0:0.0:1.0:0.0	.	1637	P20908	CO5A1_HUMAN	H	1637;174	ENSP00000360882:R1637H	ENSP00000347458:R174H	R	+	2	0	COL5A1	136856478	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	9.671000	0.98627	2.065000	0.61736	0.539000	0.68188	CGC	G|0.999;A|0.001		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137716657	G	A	137716657	3	1	52	1	0	0	0	0	1	0	0	0	3703	1087	38	1	5156	1	COL5A1	9	137716657	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	92723	137716657	3496774	335	10986											
RNF208	727800	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu	37	chr9	140115250	140115251	+	Missense_Mutation	DNP	CG	CG	TA													ggtggggcactccaggggctCgcctgccgccgccgaagaag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C|G	C|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:140115250_140115251CG>TA	ENST00000392827.1	-	2	582_583	c.414_415CG>TA	c.(412-417)ggCGag>ggTAag	p.E139K	RNF208_ENST00000391553.1_Missense_Mutation_p.E139K			Q9H0X6	RN208_HUMAN	ring finger protein 208	139					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)		TCCAGGGGCTCGCCTGCCGCCG	0.668																																					p.E139K|p.G138G		.											.	.	0			c.G415A|c.C414T						.																																			SO:0001583	missense	727800	exon1			GGGGCTCGCCTGC|GGGCTCGCCTGCC	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.414_415delinsTA	9.37:g.140115250_140115251delinsTA	ENSP00000376572:p.Glu139Lys	Somatic	21|18	0		WXS	Illumina GAIIx	Phase_I	104|100	18|10	NM_031297	0|2	0	12|13	15|22	3|7	A2BFA0	Missense_Mutation|Silent	SNP	ENST00000392827.1	37	CCDS7037.2																																																																																			.		0.668	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		TA	140115251	CG	TA	140115250	3	4	52	1	0	0	0	0	1	0	0	0	13520	893	31	1	374	1	RNF208	9	140115250	Missense_Mutation	DNP	CG	TCGA-OR-A5LJ-01A-11D-A29I-10	2398593	140115250	1098181	336	10987											
EXD3	54932	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	140243597	140243597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctgacgctttctgcaGgccgggtggcttccgtgccc	15	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:140243597G>T	ENST00000340951.4	-	16	1990	c.1795C>A	c.(1795-1797)Ctg>Atg	p.L599M	EXD3_ENST00000342129.4_Missense_Mutation_p.L279M	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						GCTTTCTGCAGGCCGGGTGGC	0.667																																					p.L599M		.											.	EXD3-90	0			c.C1795A						.						17	23	21					9																	140243597		1978	4146	6124	SO:0001583	missense	54932	exon16			TCTGCAGGCCGGG		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.1795C>A	9.37:g.140243597G>T	ENSP00000340474:p.Leu599Met	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	91	44	NM_017820	0	0	0	0	0	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	g	8.536	0.872184	0.17322	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65916	-0.18;0.6	2.68	-1.22	0.09494	.	3.172790	0.01487	U	0.016933	T	0.51839	0.1698	L	0.27053	0.805	0.09310	N	1	D;P	0.54964	0.969;0.947	P;B	0.47162	0.54;0.339	T	0.44605	-0.9317	10	0.31617	T	0.26	.	4.7014	0.12828	0.1238:0.0:0.522:0.3542	.	279;599	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	M	279;599	ENSP00000343705:L279M;ENSP00000340474:L599M	ENSP00000340474:L599M	L	-	1	2	EXD3	139363418	0.019000	0.18553	0.000000	0.03702	0.011000	0.07611	1.521000	0.35910	-0.037000	0.13646	-1.011000	0.02470	CTG	.		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140243597	G	T	140243597	3	4	52	1	0	0	0	0	1	0	0	0	5315	991	35	3	863	3	EXD3	9	140243597	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	128347	140243597	969834	337	10988											
EXD3	54932	broad.mit.edu	37	chr9	140262422	140262422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgactgcagcttcaacGtcgcgcccagcgtggctgcc	12	17	1	0	rs555383988		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:140262422G>A	ENST00000340951.4	-	6	677	c.482C>T	c.(481-483)aCg>aTg	p.T161M	EXD3_ENST00000479452.1_Missense_Mutation_p.T161M|EXD3_ENST00000342129.4_De_novo_Start_InFrame|EXD3_ENST00000475006.1_5'UTR	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						CAGCTTCAACGTCGCGCCCAG	0.557													G|||	1	0.000199681	0	0	5008	,	,		21168	0		0	False		,,,				2504	0.001				p.T161M		.											.	EXD3-90	0			c.C482T						.						38	39	39					9																	140262422		1992	4172	6164	SO:0001583	missense	54932	exon6			TTCAACGTCGCGC		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.482C>T	9.37:g.140262422G>A	ENSP00000340474:p.Thr161Met	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	113	5	NM_017820	0	0	1	1	0	Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	G	6.474	0.455616	0.12283	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.51817	0.69;1.47	2.85	0.217	0.15264	.	0.272597	0.35124	U	0.003422	T	0.24044	0.0582	N	0.22421	0.69	0.41580	D	0.988736	P;D	0.58620	0.955;0.983	B;B	0.38562	0.276;0.266	T	0.05818	-1.0862	10	0.59425	D	0.04	.	3.3268	0.07070	0.0:0.1425:0.2477:0.6098	.	161;161	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	M	161	ENSP00000340474:T161M;ENSP00000431859:T161M	ENSP00000340474:T161M	T	-	2	0	EXD3	139382243	0.001000	0.12720	0.259000	0.24435	0.176000	0.22953	0.031000	0.13710	-0.044000	0.13491	-0.823000	0.03104	ACG	.		0.557	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		A	140262422	G	A	140262422	3	1	52	1	0	0	0	0	1	0	0	0	5315	1145	40	1	2216	1	EXD3	9	140262422	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	18825	140262422	951009	338	10989											
ARRDC1	92714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	140508572	140508572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagcactgatctccGcggctatgtggtggggcagg	15	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:140508572G>A	ENST00000371421.4	+	5	588	c.524G>A	c.(523-525)cGc>cAc	p.R175H	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	175						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		ACTGATCTCCGCGGCTATGTG	0.622																																					p.R175H		.											.	ARRDC1-90	0			c.G524A						.						125	117	120					9																	140508572		2203	4300	6503	SO:0001583	missense	92714	exon5			ATCTCCGCGGCTA	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.524G>A	9.37:g.140508572G>A	ENSP00000360475:p.Arg175His	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	192	15	NM_152285	0	0	92	99	7		Missense_Mutation	SNP	ENST00000371421.4	37	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.113370	0.77210	.	.	ENSG00000197070	ENST00000371421	T	0.07444	3.19	5.65	4.75	0.60458	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.143965	0.56097	D	0.000030	T	0.22589	0.0545	M	0.62723	1.935	0.41639	D	0.989067	D;P	0.89917	1.0;0.942	D;B	0.76071	0.987;0.337	T	0.00097	-1.2072	10	0.54805	T	0.06	-9.2621	9.5702	0.39422	0.1462:0.0:0.8538:0.0	.	64;175	Q59FD7;Q8N5I2	.;ARRD1_HUMAN	H	175	ENSP00000360475:R175H	ENSP00000360475:R175H	R	+	2	0	ARRDC1	139628393	0.997000	0.39634	0.718000	0.30602	0.959000	0.62525	2.715000	0.47210	2.684000	0.91462	0.555000	0.69702	CGC	.		0.622	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		A	140508572	G	A	140508572	3	1	52	1	0	0	0	0	1	0	0	0	983	1087	38	1	542	1	ARRDC1	9	140508572	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	246150	140508572	704859	339	10990											
EHMT1	79813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140676778	140676778	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacttcaaaatggagcacCagaataagcgctctccactg	7	13	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr9:140676778C>T	ENST00000460843.1	+	15	2338	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*	EHMT1_ENST00000334856.6_Nonsense_Mutation_p.Q740*|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Nonsense_Mutation_p.Q771*	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	771					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AATGGAGCACCAGAATAAGCG	0.552																																					p.Q771X		.											.	EHMT1-154	0			c.C2311T						.						51	40	44					9																	140676778		2203	4300	6503	SO:0001587	stop_gained	79813	exon15			GAGCACCAGAATA	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2311C>T	9.37:g.140676778C>T	ENSP00000417980:p.Gln771*	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	95	43	NM_001145527	0	0	18	24	6	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Nonsense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	39	7.390957	0.98255	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	.	.	.	4.89	4.89	0.63831	.	0.103811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.4065	0.90538	0.0:1.0:0.0:0.0	.	.	.	.	X	740;740;771;771	.	ENSP00000334476:Q740X	Q	+	1	0	EHMT1	139796599	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	5.763000	0.68818	2.408000	0.81797	0.484000	0.47621	CAG	.		0.552	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		T	140676778	C	T	140676778	4	4	52	1	0	0	0	0	0	1	0	0	4997	595	21	3	2369	3	EHMT1	9	140676778	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	168206	140676778	536653	340	10991											
NET1	10276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	5498113	5498113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtcacacggaacgaaCggcactcttaccaggtttac	10	14	2	0	rs139037982		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:5498113C>T	ENST00000355029.4	+	11	1403	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	NET1_ENST00000380359.3_Missense_Mutation_p.R367W|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Missense_Mutation_p.R240W	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						ACGGAACGAACGGCACTCTTA	0.488																																					p.R421W		.											.	NET1-290	0			c.C1261T						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	87	87	87		1261,1099	4.9	1	10	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NET1	NM_001047160.1,NM_005863.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	421/597,367/543	5498113	1,13005	2203	4300	6503	SO:0001583	missense	10276	exon11			AACGAACGGCACT	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.1261C>T	10.37:g.5498113C>T	ENSP00000347134:p.Arg421Trp	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	103	46	NM_001047160	0	0	5	11	6	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570345	0.86542	0.0	1.16E-4	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.30981	1.51;1.51;1.51	5.78	4.87	0.63330	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.42682	D	0.000668	T	0.50205	0.1602	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.70016	0.967;0.967	T	0.49781	-0.8903	10	0.87932	D	0	-15.7783	14.0086	0.64481	0.0:0.9251:0.0:0.0749	.	367;421	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	W	421;240;367	ENSP00000347134:R421W;ENSP00000446452:R240W;ENSP00000369717:R367W	ENSP00000347134:R421W	R	+	1	2	NET1	5488113	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.868000	0.56055	2.735000	0.93741	0.557000	0.71058	CGG	C|1.000;T|0.000		0.488	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		T	5498113	C	T	5498113	3	4	52	1	0	0	0	0	1	0	0	0	10377	527	19	1	1400	1	NET1	10	5498113	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		5498113	130036634	341	10992											
TAF3	83860	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	8007680	8007682	+	In_Frame_Del	DEL	AGA	AGA	-													gcgagagaagagagaaaaagAgaaggagaaacacaagcatg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:8007680_8007682delAGA	ENST00000344293.5	+	3	2413_2415	c.2207_2209delAGA	c.(2206-2211)gagaag>gag	p.K737del		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	737	Lys-rich.				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)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agagaaaaagagaaggagaaACA	0.389																																					p.736_737del		.											.	TAF3-69	0			c.2207_2209del						.																																			SO:0001651	inframe_deletion	83860	exon3			AAAAAGAGAAGGA	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.2207_2209delAGA	10.37:g.8007680_8007682delAGA	ENSP00000340271:p.Lys737del	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	160	65	NM_031923	0	0	0	0	0	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	In_Frame_Del	DEL	ENST00000344293.5	37	CCDS41487.1																																																																																			.		0.389	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		-	8007682	AGA	-	8007680	7	5	52	1	0	1	0	1	0	0	0	0	15572	304	11	0	2217	0	TAF3	10	8007680	In_Frame_Del	DEL	AGA	TCGA-OR-A5LJ-01A-11D-A29I-10	2509567	8007680	127527067	342	10993											
ARHGAP21	57584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	24873649	24873649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtactggtgcgtaggcGttccctggccagccagtctg	15	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:24873649G>A	ENST00000396432.2	-	26	6055	c.5569C>T	c.(5569-5571)Cgc>Tgc	p.R1857C		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1856	Interaction with CTNNA1.				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						GTGCGTAGGCGTTCCCTGGCC	0.532																																					p.R1857C		.											.	ARHGAP21-235	0			c.C5569T						.						65	64	64					10																	24873649		2203	4297	6500	SO:0001583	missense	57584	exon26			GTAGGCGTTCCCT	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.5569C>T	10.37:g.24873649G>A	ENSP00000379709:p.Arg1857Cys	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	244	102	NM_020824	0	0	20	45	25	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490479	0.44249	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.16324	2.35	5.52	3.63	0.41609	.	0.050068	0.85682	D	0.000000	T	0.39306	0.1073	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.32348	-0.9910	10	0.87932	D	0	.	11.6487	0.51275	0.0681:0.1232:0.8087:0.0	.	1856	Q5T5U3	RHG21_HUMAN	C	1857;1306	ENSP00000379709:R1857C	ENSP00000379709:R1857C	R	-	1	0	ARHGAP21	24913655	1.000000	0.71417	0.987000	0.45799	0.121000	0.20230	7.727000	0.84838	1.299000	0.44798	-0.165000	0.13383	CGC	.		0.532	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		A	24873649	G	A	24873649	3	1	52	1	0	0	0	0	1	0	0	0	871	1145	40	1	311	1	ARHGAP21	10	24873649	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	16865969	24873649	110661098	343	10994											
KIAA1462	57608	hgsc.bcm.edu;bcgsc.ca	37	chr10	30316849	30316852	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													ggttacgggcacttggcctcTgtttgtgatcaccggtaggg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TGTT	TGTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:30316849_30316852delTGTT	ENST00000375377.1	-	3	2326_2329	c.2225_2228delAACA	c.(2224-2229)aaacagfs	p.KQ742fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	742					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.Q743*(1)		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						ACTTGGCCTCTGTTTGTGATCACC	0.578																																					p.742_743del		.											.	KIAA1462-72	1	Substitution - Nonsense(1)	lung(1)	c.2225_2228del						.																																			SO:0001589	frameshift_variant	57608	exon3			GGCCTCTGTTTGT	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.2225_2228delAACA	10.37:g.30316849_30316852delTGTT	ENSP00000364526:p.Lys742fs	Somatic	190	1		WXS	Illumina GAIIx	Phase_I	232	92	NM_020848	0	0	0	0	0	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Del	DEL	ENST00000375377.1	37	CCDS41500.1																																																																																			.		0.578	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		-	30316852	TGTT	-	30316849	7	5	52	1	0	1	0	1	0	0	0	0	8261	1580	55	0	1859	0	KIAA1462	10	30316849	Frame_Shift_Del	DEL	TGTT	TCGA-OR-A5LJ-01A-11D-A29I-10	5443200	30316849	105217898	344	10995											
ERCC6	2074	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	50691492	50691492	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgctaatgtcatcctgcAtcaatcgaatgtaggagtaa	8	9	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:50691492A>C	ENST00000355832.5	-	9	1970	c.1892T>G	c.(1891-1893)aTg>aGg	p.M631R	ERCC6_ENST00000542458.1_Start_Codon_SNP_p.M1R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	631	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCATCCTGCATCAATCGAAT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																													p.M631R		.											.	ERCC6-1153	0			c.T1892G						.						168	141	150					10																	50691492		2203	4300	6503	SO:0001583	missense	2074	exon9			TCCTGCATCAATC	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1892T>G	10.37:g.50691492A>C	ENSP00000348089:p.Met631Arg	Somatic	149	1		WXS	Illumina GAIIx	Phase_I	230	108	NM_000124	0	0	0	0	0	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041580	0.55003	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.91945	-2.94;-1.52	5.5	3.08	0.35506	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	T	0.78836	0.4346	N	0.03050	-0.425	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.006;0.008	T	0.66468	-0.5916	9	0.25106	T	0.35	-18.6008	9.0038	0.36100	0.7439:0.1312:0.0:0.1249	.	631;40	Q03468;Q59FF6	ERCC6_HUMAN;.	R	631;40;1	ENSP00000348089:M631R;ENSP00000445134:M1R	ENSP00000348089:M631R	M	-	2	0	ERCC6	50361498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.788000	0.62439	0.416000	0.25844	0.528000	0.53228	ATG	.		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50691492	A	C	50691492	3	2	52	1	0	0	0	0	1	0	0	0	5233	217	8	5	2641	5	ERCC6	10	50691492	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	20374643	50691492	84843255	345	10996											
SGMS1	259230	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	52103641	52103641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcccattggcatggccGttcttgtgtgcttccaaatg	12	10	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:52103641G>A	ENST00000361781.2	-	7	1193	c.234C>T	c.(232-234)aaC>aaT	p.N78N	SGMS1_ENST00000361543.2_Silent_p.N78N|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	84					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGCATGGCCGTTCTTGTGTG	0.532																																					p.N78N		.											.	SGMS1-227	0			c.C234T						.						112	98	103					10																	52103641		2203	4300	6503	SO:0001819	synonymous_variant	259230	exon7			ATGGCCGTTCTTG	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.234C>T	10.37:g.52103641G>A		Somatic	80	1		WXS	Illumina GAIIx	Phase_I	138	29	NM_147156	0	0	2	6	4	Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	CCDS7240.1																																																																																			.		0.532	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		A	52103641	G	A	52103641	2	1	52	1	0	0	0	0	0	0	0	1	14259	1136	40	1		1	SGMS1	10	52103641	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1412149	52103641	83431106	346	10997											
PCDH15	65217	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	55581863	55581863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttttggttctctctgagGgtctgttttacacactgtcg	10	10	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:55581863G>T	ENST00000320301.6	-	33	6017	c.5623C>A	c.(5623-5625)Cct>Act	p.P1875T	PCDH15_ENST00000361849.3_Missense_Mutation_p.P1877T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P729T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1835T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1852T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1806T|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1872T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1875					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)				TCTCTCTGAGGGTCTGTTTTA	0.388										HNSCC(58;0.16)																											p.P1882T		.											.	PCDH15-193	0			c.C5644A						.						249	235	240					10																	55581863		2203	4300	6503	SO:0001583	missense	65217	exon35			TCTGAGGGTCTGT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5623C>A	10.37:g.55581863G>T	ENSP00000322604:p.Pro1875Thr	Somatic	76	2		WXS	Illumina GAIIx	Phase_I	114	62	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	8.356	0.831960	0.16820	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T	0.69175	-0.34;-0.38;-0.3;-0.23;-0.2;-0.2;-0.28	5.15	0.843	0.18935	.	.	.	.	.	T	0.67832	0.2935	L	0.34521	1.04	0.42758	D	0.993792	B;B;B;B;B;B;B;D;B	0.89917	0.009;0.002;0.002;0.002;0.009;0.009;0.002;1.0;0.002	B;B;B;B;B;B;B;D;B	0.87578	0.01;0.005;0.005;0.005;0.01;0.01;0.005;0.998;0.005	T	0.64820	-0.6317	9	0.87932	D	0	.	5.5135	0.16894	0.0699:0.1231:0.5527:0.2543	.	1852;1875;1877;1882;1806;1835;1872;729;1875	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1835;1877;1852;729;1875;1872;1882;1806	ENSP00000378820:P1835T;ENSP00000354950:P1877T;ENSP00000378821:P1852T;ENSP00000363068:P729T;ENSP00000322604:P1875T;ENSP00000378818:P1872T;ENSP00000412628:P1806T	ENSP00000322604:P1875T	P	-	1	0	PCDH15	55251869	1.000000	0.71417	0.015000	0.15790	0.032000	0.12392	3.118000	0.50414	-0.109000	0.12044	0.591000	0.81541	CCT	.		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55581863	G	T	55581863	3	4	52	1	0	0	0	0	1	0	0	0	11550	1232	43	3	1854	3	PCDH15	10	55581863	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3478222	55581863	79952884	347	10998											
IPMK	253430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatattttcctgtgacgcGcatacatcttggacaagctt	7	9	1	1	rs375383787		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378																																					p.A319V		.											.	IPMK-228	0			c.C956T						.	G	VAL/ALA	0,4406		0,0,2203	144	146	145		956	2.9	0.5	10		145	3,8597	3.0+/-9.4	0,3,4297	no	missense	IPMK	NM_152230.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	319/417	59956132	3,13003	2203	4300	6503	SO:0001583	missense	253430	exon6			TGACGCGCATACA	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.956C>T	10.37:g.59956132G>A	ENSP00000363046:p.Ala319Val	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	83	34	NM_152230	0	0	1	2	1		Missense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489926	0.12702	0.0	3.49E-4	ENSG00000151151	ENST00000373935	T	0.17213	2.29	6.07	2.93	0.34026	.	0.417900	0.29876	N	0.010973	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.36672	-0.9738	9	.	.	.	-0.9649	7.9357	0.29929	0.3101:0.0:0.6899:0.0	.	319	Q8NFU5	IPMK_HUMAN	V	319	ENSP00000363046:A319V	.	A	-	2	0	IPMK	59626138	0.995000	0.38212	0.540000	0.28089	0.248000	0.25809	3.557000	0.53741	0.918000	0.36919	-0.225000	0.12378	GCG	.		0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		A	59956132	G	A	59956132	3	1	52	1	0	0	0	0	1	0	0	0	7819	1087	38	1	298	1	IPMK	10	59956132	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4374269	59956132	75578615	348	10999											
ANK3	288	broad.mit.edu	37	chr10	61828580	61828580	+	Frame_Shift_Del	DEL	T	T	-													cggacaactcggactgcatcTttttttcttcttcagagagg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:61828580delT	ENST00000280772.2	-	37	12250	c.12059delA	c.(12058-12060)aagfs	p.K4020fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_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.K4020fs		.											.	ANK3-107	0			c.12059delA						.						118	115	116					10																	61828580		2203	4300	6503	SO:0001589	frameshift_variant	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.12059delA	10.37:g.61828580delT	ENSP00000280772:p.Lys4020fs	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	162	7	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	CCDS7258.1																																																																																			.		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61828580	T	-	61828580	7	5	52	1	0	1	0	1	0	0	0	0	622	1609	56	0	1415	0	ANK3	10	61828580	Frame_Shift_Del	DEL	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1872448	61828580	73706167	349	11000											
RUFY2	3189	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	70105818	70105820	+	IGR	DEL	TTT	TTT	-													agtttacaatgtgttgcttcTttgtctttcagccaaaccag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TTT	TTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:70105818_70105820delTTT	ENST00000265866.7	+	0	2339				RUFY2_ENST00000265865.3_In_Frame_Del_p.K131del|RUFY2_ENST00000388768.2_In_Frame_Del_p.K576del|RUFY2_ENST00000602465.1_In_Frame_Del_p.K541del	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GTGTTGCTTCTTTGTCTTTCAGC	0.34																																					p.576_576del		.											.	RUFY2-91	0			c.1726_1728del						.																																			SO:0001628	intergenic_variant	55680	exon17			TGCTTCTTTGTCT		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105818_70105820delTTT		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	65	27	NM_017987	0	0	0	0	0	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	In_Frame_Del	DEL	ENST00000265866.7	37	CCDS7278.1																																																																																			.		0.34	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			-	70105820	TTT	-	70105818	6	5	52	0	1	1	0	1	0	0	0	0	13784	1606	56	0		0	RUFY2	10	70105818	IGR	DEL	TTT	TCGA-OR-A5LJ-01A-11D-A29I-10	8277238	70105818	65428929	350	11001											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70426853	70426853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgtttggtccggcagCgtacaggccaccactgtcca	10	13	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:70426853C>T	ENST00000373644.4	+	7	4722	c.4513C>T	c.(4513-4515)Cgt>Tgt	p.R1505C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1505					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R1505C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTCCGGCAGCGTACAGGCCA	0.463																																					p.R1505C		.											.	TET1-663	2	Substitution - Missense(2)	ovary(1)|lung(1)	c.C4513T						.						112	100	104					10																	70426853		2203	4300	6503	SO:0001583	missense	80312	exon7			CGGCAGCGTACAG	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4513C>T	10.37:g.70426853C>T	ENSP00000362748:p.Arg1505Cys	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	138	59	NM_030625	0	0	0	0	0	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269285	0.80469	.	.	ENSG00000138336	ENST00000373644	T	0.42513	0.97	5.3	4.4	0.53042	TET cysteine-rich domain (1);	0.059737	0.64402	N	0.000007	T	0.64068	0.2565	M	0.75884	2.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69143	-0.5223	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.9274:0.0:0.0726	.	1505	Q8NFU7	TET1_HUMAN	C	1505	ENSP00000362748:R1505C	ENSP00000362748:R1505C	R	+	1	0	TET1	70096859	1.000000	0.71417	0.920000	0.36463	0.944000	0.59088	4.956000	0.63645	1.364000	0.46038	0.650000	0.86243	CGT	.		0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70426853	C	T	70426853	3	4	52	1	0	0	0	0	1	0	0	0	15816	768	27	1	4535	1	TET1	10	70426853	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	321035	70426853	65107894	351	11002											
NPFFR1	64106	hgsc.bcm.edu	37	chr10	72014863	72014863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgactcagagggcagcccGgagtcgctgggccgcaccac	14	17	1	1	rs60225321	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:72014863G>A	ENST00000277942.6	-	4	1142	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	381					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						AGGGCAGCCCGGAGTCGCTGG	0.751													G|||	392	0.0782748	0.1165	0.0303	5008	,	,		10955	0.0942		0.0487	False		,,,				2504	0.0746				p.S381S		.											.	NPFFR1-22	0			c.C1143T						.	G		209,2965		3,203,1381	3	5	4		1143	-9.4	0.2	10	dbSNP_129	4	215,6851		0,215,3318	no	coding-synonymous	NPFFR1	NM_022146.4		3,418,4699	AA,AG,GG		3.0427,6.5848,4.1406		381/431	72014863	424,9816	1587	3533	5120	SO:0001819	synonymous_variant	64106	exon4			CAGCCCGGAGTCG	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.1143C>T	10.37:g.72014863G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	9	NM_022146	0	0	0	0	0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																			G|0.929;A|0.071		0.751	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		A	72014863	G	A	72014863	2	1	52	1	0	0	0	0	0	0	0	1	10616	1103	39	1		1	NPFFR1	10	72014863	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1588010	72014863	63519884	352	11003											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	73551036	73551036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgacaatgacaaccGgcccacctttagccctgcca	8	16	0	2	rs201887949	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:73551036G>A	ENST00000224721.6	+	46	6217	c.6212G>A	c.(6211-6213)cGg>cAg	p.R2071Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2066	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATGACAACCGGCCCACCTTT	0.637													G|||	65	0.0129792	0	0	5008	,	,		18534	0		0	False		,,,				2504	0.0665				p.R2066Q		.											.	CDH23-563	0			c.G6197A						.	G	GLN/ARG	0,4364		0,0,2182	62	69	67		6197	-3.3	0.1	10		67	1,8557		0,1,4278	no	missense	CDH23	NM_022124.5	43	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	benign	2066/3355	73551036	1,12921	2182	4279	6461	SO:0001583	missense	64072	exon45			ACAACCGGCCCAC	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.6212G>A	10.37:g.73551036G>A	ENSP00000224721:p.Arg2071Gln	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	207	35	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	6.610	0.480903	0.12581	0.0	1.17E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.63	-3.31	0.04988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	1.025270	0.07738	N	0.946426	T	0.17365	0.0417	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20806	-1.0264	9	0.28530	T	0.3	.	1.3795	0.02228	0.358:0.1006:0.3354:0.2061	.	2066	Q9H251	CAD23_HUMAN	Q	2071;2066;2069	.	ENSP00000224721:R2071Q	R	+	2	0	CDH23	73221042	0.000000	0.05858	0.065000	0.19835	0.077000	0.17291	0.362000	0.20284	-0.740000	0.04803	-1.613000	0.00800	CGG	G|0.998;A|0.002		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73551036	G	A	73551036	3	1	52	1	0	0	0	0	1	0	0	0	3115	1116	39	1	6724	1	CDH23	10	73551036	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1536173	73551036	61983711	353	11004											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73560424	73560424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtcttctctggaccGggagaagaaggaccactata	12	9	2	2	rs199903227		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:73560424G>A	ENST00000224721.6	+	52	7414	c.7409G>A	c.(7408-7410)cGg>cAg	p.R2470Q	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R225Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2465	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTCTGGACCGGGAGAAGAAG	0.512																																					p.R2465Q		.											.	CDH23-563	0			c.G7394A						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,3890		0,0,1945	62	65	64		674,674,7394	5.4	1	10		64	3,8271		0,3,4134	yes	missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	43,43,43	0,3,6079	AA,AG,GG		0.0363,0.0,0.0247	probably-damaging,probably-damaging,probably-damaging	225/1115,225/1080,2465/3355	73560424	3,12161	1945	4137	6082	SO:0001583	missense	64072	exon51			TGGACCGGGAGAA	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.7409G>A	10.37:g.73560424G>A	ENSP00000224721:p.Arg2470Gln	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	155	61	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	36	5.742046	0.96873	0.0	3.63E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01725	4.67	5.43	5.43	0.79202	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.93420	3.415	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.70016	0.947;0.967	T	0.02966	-1.1088	10	0.72032	D	0.01	.	19.2498	0.93919	0.0:0.0:1.0:0.0	.	2465;2465	E9PEX1;Q9H251	.;CAD23_HUMAN	Q	2470;2465;2468;225	ENSP00000381768:R225Q	ENSP00000224721:R2470Q	R	+	2	0	CDH23	73230430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.182000	0.94881	2.549000	0.85964	0.536000	0.68110	CGG	.		0.512	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73560424	G	A	73560424	3	1	52	1	0	0	0	0	1	0	0	0	3115	1116	39	1	7945	1	CDH23	10	73560424	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9388	73560424	61974323	354	11005											
SYNPO2L	79933	broad.mit.edu;bcgsc.ca	37	chr10	75414029	75414029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgccagcctggctccGtcttcgaatctgagatgttg	11	12	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:75414029G>A	ENST00000394810.2	-	2	264	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	RP11-464F9.21_ENST00000607450.1_RNA|RP11-464F9.21_ENST00000606726.1_RNA	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	39	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCCTGGCTCCGTCTTCGAATC	0.547																																					p.R39W		.											.	SYNPO2L-91	0			c.C115T						.						82	71	74					10																	75414029		692	1591	2283	SO:0001583	missense	79933	exon2			GGCTCCGTCTTCG	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.115C>T	10.37:g.75414029G>A	ENSP00000378289:p.Arg39Trp	Somatic	136	3		WXS	Illumina GAIIx	Phase_I	162	59	NM_001114133	0	0	0	0	0	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514087	0.64522	.	.	ENSG00000166317	ENST00000372872;ENST00000394810	T;T	0.43294	0.95;0.95	5.31	3.19	0.36642	PDZ/DHR/GLGF (4);	0.000000	0.64402	U	0.000004	T	0.64238	0.2580	M	0.79258	2.445	0.49130	D	0.999757	D	0.89917	1.0	D	0.97110	1.0	T	0.70597	-0.4828	10	0.72032	D	0.01	-3.4782	14.2851	0.66240	0.0:0.0:0.6549:0.3451	.	39	Q9H987	SYP2L_HUMAN	W	39	ENSP00000361963:R39W;ENSP00000378289:R39W	ENSP00000361963:R39W	R	-	1	2	SYNPO2L	75084035	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.988000	0.40697	1.203000	0.43233	0.455000	0.32223	CGG	.		0.547	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		A	75414029	G	A	75414029	3	1	52	1	0	0	0	0	1	0	0	0	15505	1144	40	1	2934	1	SYNPO2L	10	75414029	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1853605	75414029	60120718	355	11006											
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	79603319	79603319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccccagctgctccaggCggctcaggtctgcattgtgg	12	16	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:79603319C>T	ENST00000372391.2	-	6	1015	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DLG5_ENST00000372388.2_Missense_Mutation_p.R337H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	337					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGCTCCAGGCGGCTCAGGTC	0.602																																					p.R337H		.											.	DLG5-98	0			c.G1010A						.						152	144	147					10																	79603319		2203	4300	6503	SO:0001583	missense	9231	exon6			TCCAGGCGGCTCA	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.1010G>A	10.37:g.79603319C>T	ENSP00000361467:p.Arg337His	Somatic	277	1		WXS	Illumina GAIIx	Phase_I	311	155	NM_004747	0	0	14	22	8	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727950	0.89390	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06371	3.31;3.39	5.36	4.44	0.53790	.	0.196194	0.25622	N	0.029406	T	0.25195	0.0612	M	0.73962	2.25	0.43412	D	0.99555	D;D	0.89917	1.0;0.975	D;P	0.87578	0.998;0.707	T	0.01460	-1.1349	10	0.59425	D	0.04	.	15.2942	0.73891	0.1413:0.8587:0.0:0.0	.	337;337	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	H	337	ENSP00000361467:R337H;ENSP00000361464:R337H	ENSP00000361464:R337H	R	-	2	0	DLG5	79273325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	1.246000	0.43901	0.655000	0.94253	CGC	.		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79603319	C	T	79603319	3	4	52	1	0	0	0	0	1	0	0	0	4572	768	27	1	4857	1	DLG5	10	79603319	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4189290	79603319	55931428	356	11007											
GRID1	2894	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	87675969	87675969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaaagacccagtggctgtCcttggaagccaggttggtct	12	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:87675969C>T	ENST00000327946.7	-	5	839	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	252					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CAGTGGCTGTCCTTGGAAGCC	0.522										Multiple Myeloma(13;0.14)																											p.D252N		.											.	GRID1-142	0			c.G754A						.						77	73	74					10																	87675969		2203	4300	6503	SO:0001583	missense	2894	exon5			GGCTGTCCTTGGA	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.754G>A	10.37:g.87675969C>T	ENSP00000330148:p.Asp252Asn	Somatic	55	1		WXS	Illumina GAIIx	Phase_I	65	31	NM_017551	0	0	1	2	1	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649142	0.47362	.	.	ENSG00000182771	ENST00000327946	D	0.86562	-2.14	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.285420	0.42821	D	0.000653	D	0.90277	0.6959	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.86510	0.1809	10	0.02654	T	1	.	14.6027	0.68453	0.0:1.0:0.0:0.0	.	252	Q9ULK0	GRID1_HUMAN	N	252	ENSP00000330148:D252N	ENSP00000330148:D252N	D	-	1	0	GRID1	87665949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.801000	0.69115	2.504000	0.84457	0.561000	0.74099	GAC	.		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87675969	C	T	87675969	3	4	52	1	0	0	0	0	1	0	0	0	6798	855	30	3	2323	3	GRID1	10	87675969	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8072650	87675969	47858778	357	11008											
GRID1	2894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	87898579	87898579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccccatgacctacctcGttgatgaaggagtgggctcc	12	13	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:87898579G>A	ENST00000327946.7	-	4	808	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	241					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.N241N(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						GACCTACCTCGTTGATGAAGG	0.627										Multiple Myeloma(13;0.14)																											p.N241N		.											.	GRID1-142	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T						.						83	77	79					10																	87898579		2203	4300	6503	SO:0001819	synonymous_variant	2894	exon4			TACCTCGTTGATG	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.723C>T	10.37:g.87898579G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	170	81	NM_017551	0	0	0	0	0	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																			.		0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87898579	G	A	87898579	2	1	52	1	0	0	0	0	0	0	0	1	6798	1136	40	1		1	GRID1	10	87898579	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	222610	87898579	47636168	358	11009											
HELLS	3070	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	96353307	96353307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcttcttagtgagtacaCgagctggtggcctgggcatt	12	8	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:96353307C>T	ENST00000348459.5	+	18	2128	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	HELLS_ENST00000371332.4_Nonsense_Mutation_p.R721*|HELLS_ENST00000394045.1_Nonsense_Mutation_p.R577*|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGTGAGTACACGAGCTGGTGG	0.373																																					p.R675X		.											.	HELLS-92	0			c.C2023T						.						133	124	127					10																	96353307		2203	4300	6503	SO:0001587	stop_gained	3070	exon18			AGTACACGAGCTG	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2023C>T	10.37:g.96353307C>T	ENSP00000239027:p.Arg675*	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	200	99	NM_018063	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	C	40	7.912960	0.98557	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	6.02	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3931	13.9691	0.64228	0.4415:0.5585:0.0:0.0	.	.	.	.	X	675;577;721;112	.	ENSP00000239027:R675X	R	+	1	2	HELLS	96343297	0.974000	0.33945	0.998000	0.56505	0.996000	0.88848	1.195000	0.32186	0.775000	0.33450	0.650000	0.86243	CGA	.		0.373	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		T	96353307	C	T	96353307	4	4	52	1	0	0	0	0	0	1	0	0	7073	528	19	1	2093	1	HELLS	10	96353307	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8454728	96353307	39181440	359	11010											
MORN4	118812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	99376052	99376052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctggctgacttggaggCgctctgggcccgctgaacaa	13	11	2	2	rs150577682	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:99376052C>T	ENST00000307450.6	-	5	572	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.A195T|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	137										large_intestine(1)|lung(1)|stomach(2)	4						GACTTGGAGGCGCTCTGGGCC	0.532													C|||	2	0.000399361	0.0015	0	5008	,	,		19909	0		0	False		,,,				2504	0				p.A137T		.											.	MORN4-90	0			c.G409A						.						61	58	59					10																	99376052		2203	4300	6503	SO:0001583	missense	118812	exon5			TGGAGGCGCTCTG	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.409G>A	10.37:g.99376052C>T	ENSP00000307636:p.Ala137Thr	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	114	55	NM_001098831	0	0	3	4	1	Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	CCDS7468.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.594683	0.96602	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.60672	0.59;0.17	5.03	5.03	0.67393	.	0.120926	0.64402	D	0.000020	T	0.69958	0.3169	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.978	T	0.67425	-0.5674	10	0.37606	T	0.19	-15.135	18.5536	0.91075	0.0:1.0:0.0:0.0	.	195;137	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	T	137;137;195	ENSP00000307636:A137T;ENSP00000335498:A195T	ENSP00000307636:A137T	A	-	1	0	MORN4	99366042	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	5.401000	0.66326	2.622000	0.88805	0.561000	0.74099	GCC	C|0.999;T|0.000		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		T	99376052	C	T	99376052	3	4	52	1	0	0	0	0	1	0	0	0	9748	768	27	1	35	1	MORN4	10	99376052	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3022745	99376052	36158695	360	11011											
PI4K2A	55361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	99426276	99426276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgatccttccaaagatatCggaccctaacttcgtcaagg	7	12	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:99426276C>G	ENST00000370631.3	+	7	1223	c.1166C>G	c.(1165-1167)tCg>tGg	p.S389W	PI4K2A_ENST00000555577.1_Missense_Mutation_p.S359W|PI4K2A_ENST00000370649.3_Missense_Mutation_p.S359W	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	389	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CCAAAGATATCGGACCCTAAC	0.453																																					p.S389W		.											.	PI4K2A-226	0			c.C1166G						.						71	69	69					10																	99426276		2203	4300	6503	SO:0001583	missense	55361	exon7			AGATATCGGACCC	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1166C>G	10.37:g.99426276C>G	ENSP00000359665:p.Ser389Trp	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	56	15	NM_018425	0	0	0	14	14	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802976	0.50315	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77229	-1.08;-1.08;-1.08	5.55	5.55	0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.126390	0.56097	D	0.000036	D	0.90065	0.6897	M	0.86805	2.84	0.58432	D	0.999997	D;D	0.76494	0.999;0.994	D;D	0.81914	0.995;0.96	D	0.91292	0.5060	10	0.87932	D	0	-5.6151	19.5116	0.95144	0.0:1.0:0.0:0.0	.	359;389	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	W	359;389;359	ENSP00000452243:S359W;ENSP00000359665:S389W;ENSP00000359683:S359W	ENSP00000359665:S389W	S	+	2	0	PI4K2A;RP11-548K23.11	99416266	0.999000	0.42202	0.962000	0.40283	0.994000	0.84299	4.480000	0.60243	2.619000	0.88677	0.655000	0.94253	TCG	.		0.453	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		G	99426276	C	G	99426276	3	3	52	1	0	0	0	0	1	0	0	0	11910	893	31	2	1192	2	PI4K2A	10	99426276	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	50224	99426276	36108471	361	11012											
CNNM1	26507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	101124242	101124242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctttacttactatggCgtcccagccatcatgaccac	8	14	1	1	rs142898303		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:101124242C>T	ENST00000356713.4	+	5	2386	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	CNNM1_ENST00000370534.4_Silent_p.G334G|CNNM1_ENST00000370528.3_Silent_p.G628G|CNNM1_ENST00000446890.1_Silent_p.G628G	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	699					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTACTATGGCGTCCCAGCCA	0.423													C|||	1	0.000199681	0	0	5008	,	,		19092	0		0.001	False		,,,				2504	0				p.G699G		.											.	CNNM1-68	0			c.C2097T						.	C		1,4405	2.1+/-5.4	0,1,2202	104	84	91		2097	-9.9	0.6	10	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	CNNM1	NM_020348.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		699/952	101124242	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26507	exon5			CTATGGCGTCCCA	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2097C>T	10.37:g.101124242C>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	83	38	NM_020348	0	0	0	0	0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2																																																																																			C|1.000;T|0.000		0.423	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		T	101124242	C	T	101124242	2	4	52	1	0	0	0	0	0	0	0	1	3619	755	27	1		1	CNNM1	10	101124242	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1697966	101124242	34410505	362	11013											
FBXW4	6468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	103371420	103371420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgccggtcccacagccGtacaacaccgtagtaggagg	12	13	0	1	rs140286143		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:103371420G>A	ENST00000331272.7	-	8	1702	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	362					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCCACAGCCGTACAACACCG	0.597																																					p.R362W		.											.	FBXW4-226	0			c.C1084T						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	109	94	99		1084	5.1	0.9	10	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FBXW4	NM_022039.3	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	362/413	103371420	3,13003	2203	4300	6503	SO:0001583	missense	6468	exon8			ACAGCCGTACAAC	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1084C>T	10.37:g.103371420G>A	ENSP00000359149:p.Arg362Trp	Somatic	204	0		WXS	Illumina GAIIx	Phase_I	206	82	NM_022039	0	0	56	122	66	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836071	0.91117	2.27E-4	2.33E-4	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.22539	1.95	5.05	5.05	0.67936	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	0.58264	0.2110	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69577	-0.5108	10	0.87932	D	0	-17.4466	18.5925	0.91218	0.0:0.0:1.0:0.0	.	362	P57775	FBXW4_HUMAN	W	362	ENSP00000359149:R362W	ENSP00000359149:R362W	R	-	1	2	FBXW4	103361410	1.000000	0.71417	0.920000	0.36463	0.686000	0.39977	7.240000	0.78192	2.618000	0.88619	0.561000	0.74099	CGG	G|1.000;A|0.000		0.597	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		A	103371420	G	A	103371420	3	1	52	1	0	0	0	0	1	0	0	0	5789	1144	40	1	162	1	FBXW4	10	103371420	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2247178	103371420	32163327	363	11014											
C10orf76	79591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	103716388	103716388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaagctctggtgcatGcggataatctcatagtaaag	10	7	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:103716388G>A	ENST00000370033.4	-	22	1790	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	557						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TCTGGTGCATGCGGATAATCT	0.398																																					p.R557R		.											.	C10orf76-90	0			c.C1671T						.						117	118	118					10																	103716388		1901	4109	6010	SO:0001819	synonymous_variant	79591	exon22			GTGCATGCGGATA	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1671C>T	10.37:g.103716388G>A		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	203	35	NM_024541	0	0	14	15	1	Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	CCDS41563.1																																																																																			.		0.398	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		A	103716388	G	A	103716388	2	1	52	1	0	0	0	0	0	0	0	1	1621	1306	46	3		3	C10orf76	10	103716388	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	344968	103716388	31818359	364	11015											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000428099.1_Silent_p.P423P|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_001077494	0	0	0	7	7	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	52	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	442808	104159196	31375551	365	11016											
PDCD11	22984	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	105177645	105177645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaaagaaagagcctGcaggacacagtcagaagaaa	11	9	1	5	rs11598673	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:105177645G>A	ENST00000369797.3	+	14	1961	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	623			A -> S (in dbSNP:rs11598673).		mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAAGAGCCTGCAGGACACAG	0.478																																					p.A623T		.											.	PDCD11-275	0			c.G1867A						.						154	138	143					10																	105177645		2203	4300	6503	SO:0001583	missense	22984	exon14			GAGCCTGCAGGAC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1867G>A	10.37:g.105177645G>A	ENSP00000358812:p.Ala623Thr	Somatic	223	2		WXS	Illumina GAIIx	Phase_I	279	134	NM_014976	0	0	2	3	1	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209073	0.39003	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10573	2.86	5.28	2.15	0.27550	Nucleic acid-binding, OB-fold-like (1);	1.245640	0.05180	N	0.501217	T	0.05640	0.0148	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.36720	-0.9736	9	0.13853	T	0.58	0.2355	6.3238	0.21232	0.2411:0.1436:0.6154:0.0	.	623	Q14690	RRP5_HUMAN	T	623	ENSP00000358812:A623T	ENSP00000358812:A623T	A	+	1	0	PDCD11	105167635	0.000000	0.05858	0.001000	0.08648	0.949000	0.60115	0.046000	0.14035	1.161000	0.42604	0.462000	0.41574	GCA	G|0.954;T|0.046		0.478	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			A	105177645	G	A	105177645	3	1	52	1	0	0	0	0	1	0	0	0	11656	1319	46	3	1917	3	PDCD11	10	105177645	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1018449	105177645	30357102	366	11017											
COL17A1	1308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	105803593	105803593	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcctacccgaagtcacGatcttgcctggagctcctgg	10	15	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:105803593G>A	ENST00000353479.5	-	34	2714	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	COL17A1_ENST00000369733.3_Silent_p.I808I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	808	Triple-helical region.				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)		p.I808I(1)		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)		CCGAAGTCACGATCTTGCCTG	0.517																																					p.I808I		.											.	COL17A1-95	1	Substitution - coding silent(1)	skin(1)	c.C2424T						.						131	122	125					10																	105803593		2203	4300	6503	SO:0001819	synonymous_variant	1308	exon34			AGTCACGATCTTG	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.2424C>T	10.37:g.105803593G>A		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	209	93	NM_000494	0	0	0	0	0	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																			.		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105803593	G	A	105803593	2	1	52	1	0	0	0	0	0	0	0	1	3681	1048	37	1		1	COL17A1	10	105803593	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	625948	105803593	29731154	367	11018											
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu	37	chr10	112838325	112838327	+	In_Frame_Del	DEL	GGC	GGC	-													tcatctccatcgagaagaagGgcggcggcggcggcccgcag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	GGC	GGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:112838325_112838327delGGC	ENST00000280155.2	+	1	1536_1538	c.571_573delGGC	c.(571-573)ggcdel	p.G195del		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	180					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)	CGAGAAGAAgggcggcggcggcg	0.665																																					p.191_191del	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.571_573del						.																																			SO:0001651	inframe_deletion	150	exon1			AAGAAGGGCGGCG	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.571_573delGGC	10.37:g.112838334_112838336delGGC	ENSP00000280155:p.Gly195del	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	77	15	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	In_Frame_Del	DEL	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.665	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		-	112838327	GGC	-	112838325	7	5	52	1	0	1	0	1	0	0	0	0	337	1232	43	0	573	0	ADRA2A	10	112838325	In_Frame_Del	DEL	GGC	TCGA-OR-A5LJ-01A-11D-A29I-10	7034732	112838325	22696422	368	11019											
VWA2	340706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	116049187	116049187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggattccctgatccaCgtggcagcttacgccgacct	10	17	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:116049187C>T	ENST00000392982.3	+	12	2311	c.2061C>T	c.(2059-2061)caC>caT	p.H687H	VWA2_ENST00000603594.1_Silent_p.H687H			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	687	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCCTGATCCACGTGGCAGCTT	0.627																																					p.H687H		.											.	VWA2-156	0			c.C2061T						.						138	108	118					10																	116049187		2203	4300	6503	SO:0001819	synonymous_variant	340706	exon12			GATCCACGTGGCA	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.2061C>T	10.37:g.116049187C>T		Somatic	240	0		WXS	Illumina GAIIx	Phase_I	265	38	NM_001272046	0	0	0	0	0	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37																																																																																				.		0.627	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		T	116049187	C	T	116049187	2	4	52	1	0	0	0	0	0	0	0	1	17288	535	19	1		1	VWA2	10	116049187	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3210862	116049187	19485560	369	11020											
SEC23IP	11196	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	121691801	121691803	+	In_Frame_Del	DEL	AAG	AAG	-													gaaggtggccaatcagatcaAagaagaagaagaaaagcaag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:121691801_121691803delAAG	ENST00000369075.3	+	16	2801_2803	c.2729_2731delAAG	c.(2728-2733)aaagaa>aaa	p.E914del	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_In_Frame_Del_p.E703del	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	914	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AATCAGATCAAAGAAGAAGAAGA	0.355																																					p.910_911del		.											.	SEC23IP-93	0			c.2729_2731del						.																																			SO:0001651	inframe_deletion	11196	exon16			AGATCAAAGAAGA	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2729_2731delAAG	10.37:g.121691810_121691812delAAG	ENSP00000358071:p.Glu914del	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	109	32	NM_007190	0	0	0	0	0	D3DRD2|Q8IXH5|Q9BUK5	In_Frame_Del	DEL	ENST00000369075.3	37	CCDS7618.1																																																																																			.		0.355	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			-	121691803	AAG	-	121691801	7	5	52	1	0	1	0	1	0	0	0	0	14038	14	1	0	2791	0	SEC23IP	10	121691801	In_Frame_Del	DEL	AAG	TCGA-OR-A5LJ-01A-11D-A29I-10	5642614	121691801	13842946	370	11021											
FANK1	92565	hgsc.bcm.edu	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	16	13	0	1	rs202109621		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X		.											.	FANK1-91	0			c.C10T						.						8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	115	6	NM_145235	0	0	1	1	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG	.		0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		T	127585221	C	T	127585221	4	4	52	1	0	0	0	0	0	1	0	0	5694	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5893420	127585221	7949526	371	11022											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000124	135000124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccagactcccagggaCgatgagagaattccagaagg	13	10	0	4	rs367788279		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:135000124C>T	ENST00000304613.3	+	6	1293	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	KNDC1_ENST00000368571.2_Silent_p.D359D|KNDC1_ENST00000368572.2_Silent_p.D424D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	424					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCCAGGGACGATGAGAGAA	0.647													c|||	1	0.000199681	8e-04	0	5008	,	,		13936	0		0	False		,,,				2504	0				p.D424D		.											.	KNDC1-229	0			c.C1272T						.			0,4400		0,0,2200	31	38	36		1272	-8	0	10		36	1,8595		0,1,4297	no	coding-synonymous	KNDC1	NM_152643.6		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		424/1750	135000124	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	85442	exon6			CAGGGACGATGAG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1272C>T	10.37:g.135000124C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	12	NM_152643	0	0	9	18	9	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			.		0.647	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135000124	C	T	135000124	2	4	52	1	0	0	0	0	0	0	0	1	8453	535	19	1		1	KNDC1	10	135000124	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7414903	135000124	534623	372	11023			1	53		3	3	36	N	T_C_A	2.971695e-07
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000148	135000148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaattccagaaggagcTaggcagctggaaagtgcagc	15	7	0	2	rs3810965	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368571.2_Silent_p.A367A|KNDC1_ENST00000368572.2_Silent_p.A432A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595				p.A432A		.											.	KNDC1-229	0			c.T1296C						.			719,3683		63,593,1545	26	32	30		1296	-4.2	0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442	exon6			AGGAGCTAGGCAG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1296T>C	10.37:g.135000148T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	8	5	NM_152643	0	0	10	10	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.607;C|0.393		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		C	135000148	T	C	135000148	2	2	52	1	0	0	0	0	0	0	0	1	8453	1509	53	4		4	KNDC1	10	135000148	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	24	135000148	534599	373	11024			1	53		3	3	36	N	T_C_A	2.971695e-07
KNDC1	85442	hgsc.bcm.edu	37	chr10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctaggcagctggAaagtgcagccgcggagcagg	18	8	0	1	rs3810964	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:135000159A>G	ENST00000304613.3	+	6	1328	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	KNDC1_ENST00000368571.2_Missense_Mutation_p.E371G|KNDC1_ENST00000368572.2_Missense_Mutation_p.E436G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	436			E -> G (in dbSNP:rs3810964). {ECO:0000269|Ref.1}.		cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGCTGGAAAGTGCAGCC	0.652													a|||	2088	0.416933	0.118	0.3847	5008	,	,		14228	0.5774		0.4354	False		,,,				2504	0.6595				p.E436G		.											.	KNDC1-229	0			c.A1307G						.		GLY/GLU	699,3701		65,569,1566	23	28	26		1307	-5.9	0	10	dbSNP_107	26	3934,4658		927,2080,1289	yes	missense	KNDC1	NM_152643.6	98	992,2649,2855	GG,GA,AA		45.7868,15.8864,35.6604	benign	436/1750	135000159	4633,8359	2200	4296	6496	SO:0001583	missense	85442	exon6			AGCTGGAAAGTGC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1307A>G	10.37:g.135000159A>G	ENSP00000304437:p.Glu436Gly	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_152643	0	0	1	1	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	871	0.39880952380952384	52	0.10569105691056911	135	0.3729281767955801	338	0.5909090909090909	346	0.45646437994722955	A	6.455	0.452036	0.12283	0.158864	0.457868	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.28895	1.59;1.59;1.59	3.02	-5.95	0.02241	.	0.946911	0.08625	N	0.917834	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	9	0.09843	T	0.71	-2.0863	2.4481	0.04511	0.2095:0.4457:0.2064:0.1384	rs3810964;rs58651584;rs3810964	371;436	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	G	436;436;371	ENSP00000304437:E436G;ENSP00000357561:E436G;ENSP00000357560:E371G	ENSP00000304437:E436G	E	+	2	0	KNDC1	134850149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.198000	0.02669	-1.676000	0.00740	GAA	A|0.608;G|0.392		0.652	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		G	135000159	A	G	135000159	3	3	52	1	0	0	0	0	1	0	0	0	8453	246	9	4	1329	4	KNDC1	10	135000159	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	11	135000159	534588	374	11025			1	53		3	3	36	N	T_C_A	2.971695e-07
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC													tgagccgatcccacctggagTtgcttccgggggcctcaggc					rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D|KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	7	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		AC	135012430	TT	AC	135012429	3	1	52	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	DNP	TT	TCGA-OR-A5LJ-01A-11D-A29I-10	12270	135012429	522318	375	11026											
LRDD	55367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	800997	800997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaccaggagaagtgtGtgacctggaagcgtgcgtac	15	9	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:800997G>A	ENST00000347755.5	-	10	1895	c.1754C>T	c.(1753-1755)aCa>aTa	p.T585I	PIDD_ENST00000411829.2_Missense_Mutation_p.T585I|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GGAGAAGTGTGTGACCTGGAA	0.632																																					p.T585I		.											.	PIDD-205	0			c.C1754T						.						36	29	31					11																	800997		2179	4290	6469	SO:0001583	missense	55367	exon10			AAGTGTGTGACCT																												ENST00000347755.5:c.1754C>T	11.37:g.800997G>A	ENSP00000337797:p.Thr585Ile	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	101	8	NM_145887	0	0	3	4	1		Missense_Mutation	SNP	ENST00000347755.5	37	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441085	0.63067	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.53206	0.72;0.63	4.55	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	L	0.29908	0.895	0.34738	D	0.730472	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74674	0.981;0.963;0.984	T	0.59825	-0.7381	10	0.87932	D	0	.	5.3112	0.15831	0.1704:0.0:0.667:0.1626	.	272;585;585	Q9HB75-5;Q9HB75;Q9HB75-2	.;PIDD_HUMAN;.	I	585	ENSP00000416801:T585I;ENSP00000337797:T585I	ENSP00000337797:T585I	T	-	2	0	PIDD	790997	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	4.319000	0.59197	0.904000	0.36572	0.561000	0.74099	ACA	.		0.632	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			A	800997	G	A	800997	3	1	52	1	0	0	0	0	1	0	0	0	8971	1377	48	3	1006	3	LRDD	11	800997	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10		800997	134205519	376	11027											
MUC5B	727897	bcgsc.ca	37	chr11	1271633	1271633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggactgcaactgcccttcCagcactgagaagcacagcca	10	14	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:1271633C>A	ENST00000529681.1	+	31	13581	c.13523C>A	c.(13522-13524)cCa>cAa	p.P4508Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P4511Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4508	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGCCCTTCCAGCACTGAGA	0.627																																					p.P4508Q		.											.	.	0			c.C13523A						.						155	199	184					11																	1271633		2177	4262	6439	SO:0001583	missense	727897	exon31			CCCTTCCAGCACT	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.13523C>A	11.37:g.1271633C>A	ENSP00000436812:p.Pro4508Gln	Somatic	1117	7		WXS	Illumina GAIIx	Phase_I	707	541	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.261	-0.369302	0.05069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.25579	1.79;1.98	1.46	-1.15	0.09709	.	.	.	.	.	T	0.20047	0.0482	L	0.54323	1.7	0.09310	N	1	B;B	0.28552	0.215;0.215	B;B	0.29440	0.102;0.102	T	0.34825	-0.9813	9	0.87932	D	0	.	1.786	0.03041	0.3136:0.4279:0.0:0.2585	.	4981;4511	A7Y9J9;E9PBJ0	.;.	Q	4508;4511;4452;4358;287	ENSP00000436812:P4508Q;ENSP00000415793:P4511Q	ENSP00000343037:P4452Q	P	+	2	0	MUC5B	1228209	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.074000	0.11450	-0.281000	0.09141	0.184000	0.17185	CCA	.		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1271633	C	A	1271633	3	1	52	1	0	0	0	0	1	0	0	0	10017	594	21	3	13654	3	MUC5B	11	1271633	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	470636	1271633	133734883	377	11028											
KRTAP5-5	439915	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1651190	1651190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgggggctgtggctcCggctgtggaggctgtggggg	24	7	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:1651190C>T	ENST00000399676.2	+	1	158	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	40						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)		gctgtggctccggctgtggag	0.716																																					p.S40S		.											.	KRTAP5-5-23	0			c.C120T						.						17	27	24					11																	1651190		1821	3747	5568	SO:0001819	synonymous_variant	439915	exon1			TGGCTCCGGCTGT	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.120C>T	11.37:g.1651190C>T		Somatic	36	2		WXS	Illumina GAIIx	Phase_I	147	119	NM_001001480	0	0	0	0	0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																			.		0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			T	1651190	C	T	1651190	2	4	52	1	0	0	0	0	0	0	0	1	8592	639	23	1		1	KRTAP5-5	11	1651190	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	379557	1651190	133355326	378	11029											
TH	7054	ucsc.edu;bcgsc.ca	37	chr11	2190951	2190951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagagcaggtttagcaCggccttcccctccttctcct	10	14	1	2	rs6356	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:2190951C>T	ENST00000381178.1	-	3	352	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	TH_ENST00000333684.5_Missense_Mutation_p.V85M|TH_ENST00000352909.3_Missense_Mutation_p.V81M|TH_ENST00000381175.1_Missense_Mutation_p.V108M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	112			V -> M (common polymorphism; dbSNP:rs6356). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21940685, ECO:0000269|PubMed:7789962, ECO:0000269|PubMed:9613851}.		anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGTTTAGCACGGCCTTCCCC	0.697													C|||	2156	0.430511	0.1014	0.3919	5008	,	,		15378	0.7877		0.4026	False		,,,				2504	0.5634				p.V112M		.											.	TH-90	0			c.G334A						.	C	MET/VAL,MET/VAL,MET/VAL	623,3779	265.6+/-266.7	36,551,1614	58	60	60	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	241,334,322	-1.8	0	11	dbSNP_52	60	3121,5477	472.4+/-368.3	569,1983,1747	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	21,21,21	605,2534,3361	TT,TC,CC		36.2991,14.1527,28.8	benign,benign,benign	81/498,112/529,108/525	2190951	3744,9256	2201	4299	6500	SO:0001583	missense	7054	exon3			TTAGCACGGCCTT	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.334G>A	11.37:g.2190951C>T	ENSP00000370571:p.Val112Met	Somatic	317	3		WXS	Illumina GAIIx	Phase_I	203	170	NM_199292	0	0	0	0	0	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	913	0.41804029304029305	52	0.10569105691056911	127	0.35082872928176795	443	0.7744755244755245	291	0.3839050131926121	C	13.68	2.310931	0.40895	0.141527	0.362991	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	3.59	-1.8	0.07907	.	0.577810	0.17552	N	0.170143	T	0.00012	0.0000	L	0.31664	0.95	0.80722	P	0.0	B;B;B;B;B	0.24576	0.037;0.037;0.044;0.016;0.106	B;B;B;B;B	0.21151	0.006;0.006;0.02;0.005;0.033	T	0.41662	-0.9496	9	0.33141	T	0.24	.	4.7289	0.12955	0.0:0.2915:0.2918:0.4167	rs6356;rs57599796;rs6356	85;81;81;112;108	Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;TY3H_HUMAN;.	M	112;108;81;85	ENSP00000370571:V112M;ENSP00000370567:V108M;ENSP00000325951:V81M;ENSP00000328814:V85M	ENSP00000328814:V85M	V	-	1	0	TH	2147527	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.327000	0.07955	-0.189000	0.10482	0.491000	0.48974	GTG	C|0.652;T|0.348		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2190951	C	T	2190951	3	4	52	1	0	0	0	0	1	0	0	0	15885	536	19	1	1300	1	TH	11	2190951	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	539761	2190951	132815565	379	11030											
OR56A3	390083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5969261	5969261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaccttcattctgcgagctGtgctgagactcaaggcagag	11	11	3	2	rs373849227		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:5969261G>T	ENST00000329564.6	+	1	692	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCGAGCTGTGCTGAGACT	0.512																																					p.V229L		.											.	OR56A3-68	0			c.G685T						.						200	195	197					11																	5969261		2186	4285	6471	SO:0001583	missense	390083	exon1			CGAGCTGTGCTGA		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.685G>T	11.37:g.5969261G>T	ENSP00000331572:p.Val229Leu	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	90	71	NM_001003443	0	0	0	0	0	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090996	0.36855	.	.	ENSG00000184478	ENST00000329564	T	0.00291	8.27	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000073	T	0.00754	0.0025	M	0.91354	3.2	0.29041	N	0.88509	P	0.36465	0.554	P	0.50162	0.633	T	0.00975	-1.1494	10	0.87932	D	0	-30.5221	17.393	0.87437	0.0:0.0:1.0:0.0	.	229	Q8NH54	O56A3_HUMAN	L	229	ENSP00000331572:V229L	ENSP00000331572:V229L	V	+	1	0	OR56A3	5925837	0.000000	0.05858	1.000000	0.80357	0.024000	0.10985	0.466000	0.22019	2.687000	0.91594	0.650000	0.86243	GTG	.		0.512	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		T	5969261	G	T	5969261	3	4	52	1	0	0	0	0	1	0	0	0	11173	1377	48	3	687	3	OR56A3	11	5969261	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3778310	5969261	129037255	380	11031											
FAM160A2	84067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	6232915	6232915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagagcctcaccttggcGttcaggggccccgccccggg	14	16	2	1	rs201012137		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:6232915G>A	ENST00000449352.2	-	12	3003	c.2740C>T	c.(2740-2742)Cgc>Tgc	p.R914C	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R928C|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	914					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACCTTGGCGTTCAGGGGCC	0.597													G|||	1	0.000199681	0	0.0014	5008	,	,		16333	0		0	False		,,,				2504	0				p.R928C		.											.	FAM160A2-92	0			c.C2782T						.	G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	58	65	63		2740,2782	5.2	1	11		63	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	FAM160A2	NM_001098794.1,NM_032127.3	180,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	914/973,928/987	6232915	1,12993	2201	4296	6497	SO:0001583	missense	84067	exon12			CTTGGCGTTCAGG		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2740C>T	11.37:g.6232915G>A	ENSP00000416918:p.Arg914Cys	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	54	9	NM_032127	0	0	8	11	3	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.769998	0.49680	0.0	1.16E-4	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09163	3.01;3.01	5.22	5.22	0.72569	.	0.081264	0.50627	D	0.000112	T	0.18635	0.0447	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57960	0.68;0.83	T	0.00304	-1.1832	10	0.49607	T	0.09	-7.8508	11.3748	0.49722	0.0:0.0:0.7163:0.2837	.	914;928	Q8N612;Q8N612-2	F16A2_HUMAN;.	C	914;928	ENSP00000416918:R914C;ENSP00000265978:R928C	ENSP00000265978:R928C	R	-	1	0	FAM160A2	6189491	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.243000	0.51392	2.418000	0.82041	0.650000	0.86243	CGC	G|1.000;A|0.000		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6232915	G	A	6232915	3	1	52	1	0	0	0	0	1	0	0	0	5488	1145	40	1	182	1	FAM160A2	11	6232915	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	263654	6232915	128773601	381	11032											
ST5	6764	broad.mit.edu	37	chr11	8724250	8724250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccttgagtccatgggCcgccgcagctctaacacctg	10	16	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:8724250C>T	ENST00000534127.1	-	17	2974	c.2589G>A	c.(2587-2589)cgG>cgA	p.R863R	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.R443R|ST5_ENST00000530991.1_Silent_p.R335R|ST5_ENST00000357665.1_Silent_p.R863R|ST5_ENST00000534278.1_Silent_p.R54R|ST5_ENST00000313726.6_Silent_p.R863R|ST5_ENST00000526757.1_Silent_p.R443R|ST5_ENST00000526099.1_Silent_p.R376R	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	863	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)		AGTCCATGGGCCGCCGCAGCT	0.622																																					p.R863R		.											.	ST5-227	0			c.G2589A						.						67	62	64					11																	8724250		2201	4296	6497	SO:0001819	synonymous_variant	6764	exon17			CATGGGCCGCCGC	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.2589G>A	11.37:g.8724250C>T		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	88	4	NM_005418	0	0	8	9	1	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	CCDS7791.1																																																																																			.		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		T	8724250	C	T	8724250	2	4	52	1	0	0	0	0	0	0	0	1	15267	726	26	3		3	ST5	11	8724250	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2491335	8724250	126282266	382	11033											
TEAD1	7003	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	12923632	12923632	+	Frame_Shift_Del	DEL	A	A	-													actgtttggaaagggccctcAaaatgccttcttcctcgtaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:12923632delA	ENST00000526600.1	+	5	780	c.557delA	c.(556-558)caafs	p.Q186fs	TEAD1_ENST00000361985.2_Frame_Shift_Del_p.Q282fs|TEAD1_ENST00000361905.4_Frame_Shift_Del_p.Q267fs|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.Q282fs|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000334310.6_Intron|SCARNA16_ENST00000516520.1_RNA			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	282	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAGGGCCCTCAAAATGCCTTC	0.418																																					p.Q282fs		.											.	TEAD1-90	0			c.845delA						.						190	182	184					11																	12923632		2200	4294	6494	SO:0001589	frameshift_variant	7003	exon10			GCCCTCAAAATGC	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.557delA	11.37:g.12923632delA	ENSP00000435393:p.Gln186fs	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	141	25	NM_021961	0	0	0	0	0	A4FUP2|E7EV65	Frame_Shift_Del	DEL	ENST00000526600.1	37																																																																																				.		0.418	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		-	12923632	A	-	12923632	7	5	52	1	0	1	0	1	0	0	0	0	15785	130	5	0	875	0	TEAD1	11	12923632	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	4199382	12923632	122082884	383	11034											
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	19955447	19955447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggaagctcaacagtgccAagaaggagcccatggcccct	14	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:19955447A>G	ENST00000396087.3	+	8	1825	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E	NAV2_ENST00000360655.4_Missense_Mutation_p.K489E|NAV2_ENST00000349880.4_Missense_Mutation_p.K553E|NAV2_ENST00000540292.1_Missense_Mutation_p.K507E|NAV2_ENST00000527559.2_Missense_Mutation_p.K505E|NAV2_ENST00000396085.1_Missense_Mutation_p.K553E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	576					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						CAACAGTGCCAAGAAGGAGCC	0.562																																					p.K576E		.											.	NAV2-96	0			c.A1726G						.						73	79	77					11																	19955447		2199	4293	6492	SO:0001583	missense	89797	exon8			AGTGCCAAGAAGG	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.1726A>G	11.37:g.19955447A>G	ENSP00000379396:p.Lys576Glu	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	24	20	NM_001244963	0	0	0	0	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349082	0.82132	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.65512	0.2698	M	0.64997	1.995	0.80722	D	1	P;D	0.76494	0.699;0.999	P;D	0.85130	0.696;0.997	T	0.65944	-0.6045	9	.	.	.	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	553;489	Q8IVL1-3;Q8IVL1-4	.;.	E	489;553;553;576;505;507	ENSP00000353871:K489E;ENSP00000379394:K553E;ENSP00000309577:K553E;ENSP00000379396:K576E;ENSP00000435395:K505E;ENSP00000443489:K507E	.	K	+	1	0	NAV2	19912023	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.327000	0.96396	1.943000	0.56356	0.379000	0.24179	AAG	.		0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	19955447	A	G	19955447	3	3	52	1	0	0	0	0	1	0	0	0	10222	131	5	4	1762	4	NAV2	11	19955447	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	7031815	19955447	115051069	384	11035											
QSER1	79832	hgsc.bcm.edu;bcgsc.ca	37	chr11	32979554	32979554	+	Frame_Shift_Del	DEL	A	A	-													agccaccaccaaagaaacggAaaaaatggaaagaagaattt							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:32979554delA	ENST00000399302.2	+	8	4839	c.4504delA	c.(4504-4506)aaafs	p.K1503fs	QSER1_ENST00000527788.1_Frame_Shift_Del_p.K1264fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1503										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)					AAAGAAACGGAAAAAATGGAA	0.418																																					p.K1502fs		.											.	QSER1-95	0			c.4504delA						.						86	80	82					11																	32979554		1854	4106	5960	SO:0001589	frameshift_variant	79832	exon8			AAACGGAAAAAAT	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.4504delA	11.37:g.32979554delA	ENSP00000382241:p.Lys1503fs	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	102	79	NM_001076786	0	0	0	0	0	Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	ENST00000399302.2	37	CCDS41631.1																																																																																			.		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		-	32979554	A	-	32979554	7	5	52	1	0	1	0	1	0	0	0	0	12927	247	9	0	4526	0	QSER1	11	32979554	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	13024107	32979554	102026962	385	11036											
TNKS1BP1	85456	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	57077118	57077119	+	Frame_Shift_Del	DEL	CT	CT	-													actgaacaagcccccggatcCtctctctcctggccggccag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:57077118_57077119delCT	ENST00000532437.1	-	5	3377_3378	c.3066_3067delAG	c.(3064-3069)agaggafs	p.G1023fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1023fs|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1023	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCCCGGATCCTCTCTCTCCTG	0.589																																					p.1022_1023del		.											.	TNKS1BP1-91	0			c.3066_3067del						.																																			SO:0001589	frameshift_variant	85456	exon6			CGGATCCTCTCTC	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3066_3067delAG	11.37:g.57077124_57077125delCT	ENSP00000437271:p.Gly1023fs	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	52	36	NM_033396	0	0	0	0	0	A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	CCDS7951.1																																																																																			.		0.589	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		-	57077119	CT	-	57077118	7	5	52	1	0	1	0	1	0	0	0	0	16367	690	24	0	2146	0	TNKS1BP1	11	57077118	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LJ-01A-11D-A29I-10	24097564	57077118	77929398	386	11037											
FADS2	9415	hgsc.bcm.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TCC	TCC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000522056.1_In_Frame_Del_p.L106del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|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 plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																					p.133_134del		.											.	FADS2-92	0			c.398_400del						.																																			SO:0001651	inframe_deletion	9415	exon3			TGTTCTTCCTCCT	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del	Somatic	292	1		WXS	Illumina GAIIx	Phase_I	193	14	NM_004265	0	0	0	0	0	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	CCDS8012.1																																																																																			.		0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		-	61607887	TCC	-	61607885	7	5	52	1	0	1	0	1	0	0	0	0	5385	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-OR-A5LJ-01A-11D-A29I-10	4530767	61607885	73398631	387	11038											
SLC22A24	283238	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62850786	62850786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatatctggcttattcgaCgacccatatgattcagtgtc	7	10	2	1	rs373291441		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:62850786C>T	ENST00000417740.1	-	7	1655	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GCTTATTCGACGACCCATATG	0.473																																					p.R405H		.											.	.	0			c.G1214A						.	C	HIS/ARG	0,1384		0,0,692	151	122	130		1214	1.9	0	11		130	1,3181		0,1,1590	no	missense	SLC22A24	NM_001136506.2	29	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	probably-damaging	405/553	62850786	1,4565	692	1591	2283	SO:0001583	missense	283238	exon7			ATTCGACGACCCA		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1214G>A	11.37:g.62850786C>T	ENSP00000396586:p.Arg405His	Somatic	175	2		WXS	Illumina GAIIx	Phase_I	153	129	NM_001136506	0	0	0	0	0		Missense_Mutation	SNP	ENST00000417740.1	37		.	.	.	.	.	.	.	.	.	.	C	16.26	3.072946	0.55646	0.0	3.14E-4	ENSG00000197658	ENST00000417740	D	0.84070	-1.8	3.8	1.92	0.25849	.	.	.	.	.	D	0.90157	0.6924	H	0.94345	3.525	0.09310	N	0.999997	D	0.56968	0.978	P	0.54590	0.756	T	0.81426	-0.0938	9	0.87932	D	0	.	7.7017	0.28627	0.0:0.7857:0.0:0.2143	.	405	C9JC66	.	H	405	ENSP00000396586:R405H	ENSP00000396586:R405H	R	-	2	0	SLC22A24	62607362	0.001000	0.12720	0.016000	0.15963	0.136000	0.21042	0.228000	0.17814	0.307000	0.22880	0.596000	0.82720	CGT	.		0.473	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		T	62850786	C	T	62850786	3	4	52	1	0	0	0	0	1	0	0	0	14498	536	19	1	455	1	SLC22A24	11	62850786	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1242901	62850786	72155730	388	11039											
LGALS12	85329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63276041	63276041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtggttccttatgtcaCgacgatttttggaggcctgc	12	9	2	0	rs144263194	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:63276041C>T	ENST00000394618.3	+	2	443	c.152C>T	c.(151-153)aCg>aTg	p.T51M	LGALS12_ENST00000425950.2_5'UTR|LGALS12_ENST00000255684.5_Missense_Mutation_p.T51M|LGALS12_ENST00000415491.2_5'UTR|LGALS12_ENST00000340246.5_Missense_Mutation_p.T51M	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	51	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CCTTATGTCACGACGATTTTT	0.547													C|||	2	0.000399361	0.0015	0	5008	,	,		20398	0		0	False		,,,				2504	0				p.T51M		.											.	LGALS12-92	0			c.C152T						.	C	MET/THR,MET/THR,,,MET/THR	2,4400	4.2+/-10.8	0,2,2199	99	89	92		152,152,,,152	4.6	0.9	11	dbSNP_134	92	0,8596		0,0,4298	no	missense,missense,utr-5,utr-5,missense	LGALS12	NM_001142535.1,NM_001142536.1,NM_001142537.1,NM_001142538.1,NM_033101.3	81,81,,,81	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,,,probably-damaging	51/338,51/328,,,51/337	63276041	2,12996	2201	4298	6499	SO:0001583	missense	85329	exon2			ATGTCACGACGAT	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.152C>T	11.37:g.63276041C>T	ENSP00000378116:p.Thr51Met	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	70	56	NM_001142535	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652238	0.29336	4.54E-4	0.0	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246	T;T;T	0.05199	3.48;3.48;3.48	5.51	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000009	T	0.07052	0.0179	L	0.59967	1.855	0.80722	D	1	P;P;P	0.48350	0.889;0.532;0.909	B;B;B	0.37047	0.154;0.07;0.24	T	0.13818	-1.0495	10	0.62326	D	0.03	-10.1985	8.396	0.32557	0.0:0.7628:0.1546:0.0826	.	51;51;51	G5E970;Q96DT0-3;Q96DT0	.;.;LEG12_HUMAN	M	51	ENSP00000255684:T51M;ENSP00000378116:T51M;ENSP00000339374:T51M	ENSP00000255684:T51M	T	+	2	0	LGALS12	63032617	0.203000	0.23435	0.867000	0.34043	0.530000	0.34684	1.803000	0.38863	1.494000	0.48533	-0.137000	0.14449	ACG	C|1.000;T|0.000		0.547	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		T	63276041	C	T	63276041	3	4	52	1	0	0	0	0	1	0	0	0	8767	536	19	1	158	1	LGALS12	11	63276041	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	425255	63276041	71730475	389	11040											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_003273	0	0	0	29	29	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	52	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1604049	64880090	70126426	390	11041											
LTBP3	4054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65319519	65319519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggcttgggtggcccGtcagggtgcaggaaaaggga	20	7	1	0	rs200551731		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:65319519G>A	ENST00000301873.5	-	8	1723	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	LTBP3_ENST00000322147.4_Silent_p.D485D|LTBP3_ENST00000536982.1_Silent_p.D111D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	485					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGGTGGCCCGTCAGGGTGCA	0.602											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		17924	0		0.001	False		,,,				2504	0				p.D485D		.											.	LTBP3-91	0			c.C1455T						.						116	126	123					11																	65319519		2201	4297	6498	SO:0001819	synonymous_variant	4054	exon8			TGGCCCGTCAGGG	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1455C>T	11.37:g.65319519G>A		Somatic	185	1	1083	WXS	Illumina GAIIx	Phase_I	132	110	NM_001130144	0	0	3	27	24	O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	CCDS44647.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.207	0.406265	0.11754	.	.	ENSG00000168056	ENST00000526927	.	.	.	3.85	-4.19	0.03835	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32161	-0.9917	4	.	.	.	.	2.4074	0.04416	0.276:0.1513:0.4241:0.1486	.	.	.	.	W	136	.	.	R	-	1	2	LTBP3	65076095	0.002000	0.14202	0.703000	0.30354	0.711000	0.40976	-1.030000	0.03581	-1.109000	0.02996	0.195000	0.17529	CGG	G|1.000;A|0.000		0.602	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		A	65319519	G	A	65319519	2	1	52	1	0	0	0	0	0	0	0	1	9110	1136	40	1		1	LTBP3	11	65319519	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	439429	65319519	69686997	391	11042											
RHOD	29984	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66838933	66838933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggcgaggtccgtgggcGcggtggcctacctcgagtgc	18	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:66838933G>A	ENST00000308831.2	+	5	578	c.493G>A	c.(493-495)Gcg>Acg	p.A165T	RHOD_ENST00000532559.1_Missense_Mutation_p.A99T	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	165					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GTCCGTGGGCGCGGTGGCCTA	0.682																																					p.A165T		.											.	RHOD-659	0			c.G493A						.						32	30	31					11																	66838933		2200	4290	6490	SO:0001583	missense	29984	exon5			GTGGGCGCGGTGG	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.493G>A	11.37:g.66838933G>A	ENSP00000308576:p.Ala165Thr	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	76	6	NM_014578	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308831.2	37	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772823	0.69992	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.71461	-0.57;-0.57	4.27	4.27	0.50696	Small GTP-binding protein domain (1);	0.000000	0.43110	D	0.000608	T	0.81931	0.4927	M	0.90705	3.14	0.18873	N	0.999988	D	0.65815	0.995	P	0.54401	0.751	T	0.76844	-0.2809	10	0.87932	D	0	-18.434	12.088	0.53708	0.0:0.0:1.0:0.0	.	165	O00212	RHOD_HUMAN	T	165;99	ENSP00000308576:A165T;ENSP00000432003:A99T	ENSP00000308576:A165T	A	+	1	0	RHOD	66595509	1.000000	0.71417	0.091000	0.20842	0.595000	0.36748	6.435000	0.73412	2.220000	0.72140	0.561000	0.74099	GCG	.		0.682	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		A	66838933	G	A	66838933	3	1	52	1	0	0	0	0	1	0	0	0	13382	1087	38	1	511	1	RHOD	11	66838933	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1519414	66838933	68167583	392	11043											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682296	68682296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcggttcccaggttctGtgctgcgccccctccaacat	9	16	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:68682296G>A	ENST00000255078.3	+	6	828	c.717G>A	c.(715-717)ctG>ctA	p.L239L	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	239					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCAGGTTCTGTGCTGCGCCC	0.527																																					p.L239L		.											.	IGHMBP2-90	0			c.G717A						.						88	89	89					11																	68682296		2200	4294	6494	SO:0001819	synonymous_variant	3508	exon6			GGTTCTGTGCTGC	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.717G>A	11.37:g.68682296G>A		Somatic	126	1		WXS	Illumina GAIIx	Phase_I	87	4	NM_002180	0	0	0	0	0	A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	CCDS8187.1																																																																																			.		0.527	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68682296	G	A	68682296	2	1	52	1	0	0	0	0	0	0	0	1	7618	1364	48	3		3	IGHMBP2	11	68682296	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1843363	68682296	66324220	393	11044											
KCTD21	283219	ucsc.edu;bcgsc.ca	37	chr11	77885257	77885257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacacgctggttcagtGtgatgttgagcatggcattc	12	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:77885257G>T	ENST00000340067.3	-	2	622	c.344C>A	c.(343-345)aCa>aAa	p.T115K	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	115					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	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;1.46e-24)			CTGGTTCAGTGTGATGTTGAG	0.582																																					p.T115K		.											.	KCTD21-69	0			c.C344A						.						139	108	119					11																	77885257		2200	4292	6492	SO:0001583	missense	283219	exon2			TTCAGTGTGATGT	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.344C>A	11.37:g.77885257G>T	ENSP00000339340:p.Thr115Lys	Somatic	141	2		WXS	Illumina GAIIx	Phase_I	70	59	NM_001029859	0	0	0	4	4	B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991570	0.35131	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447;ENST00000529350	T;T;T;T	0.53206	0.63;0.7;0.7;0.71	6.03	5.11	0.69529	.	0.105769	0.41712	D	0.000824	T	0.25494	0.0620	N	0.08118	0	0.34322	D	0.686705	B	0.09022	0.002	B	0.13407	0.009	T	0.30357	-0.9981	10	0.16420	T	0.52	.	10.1171	0.42598	0.0744:0.1469:0.7787:0.0	.	115	Q4G0X4	KCD21_HUMAN	K	115	ENSP00000339340:T115K;ENSP00000431789:T115K;ENSP00000434174:T115K;ENSP00000431130:T115K	ENSP00000339340:T115K	T	-	2	0	KCTD21	77562905	0.976000	0.34144	0.896000	0.35187	0.915000	0.54546	1.704000	0.37857	1.551000	0.49450	0.655000	0.94253	ACA	.		0.582	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		T	77885257	G	T	77885257	3	4	52	1	0	0	0	0	1	0	0	0	8136	1377	48	3	442	3	KCTD21	11	77885257	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9202961	77885257	57121259	394	11045											
PICALM	8301	broad.mit.edu	37	chr11	85694914	85694914	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttttttccttacccccaGaatctacaataacatttgta	2	10	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:85694914G>T	ENST00000393346.3	-	14	1659	c.1511C>A	c.(1510-1512)tCt>tAt	p.S504Y	PICALM_ENST00000526033.1_Missense_Mutation_p.S497Y|PICALM_ENST00000356360.5_Missense_Mutation_p.S504Y|PICALM_ENST00000528398.1_Missense_Mutation_p.S403Y|PICALM_ENST00000532317.1_Missense_Mutation_p.S454Y			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	504					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CTTACCCCCAGAATCTACAAT	0.308			T	"MLLT10, MLL"	"TALL, AML, "																																p.S504Y		.		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	PICALM-659	0			c.C1511A						.						27	27	27					11																	85694914		2202	4298	6500	SO:0001583	missense	8301	exon14			CCCCCAGAATCTA	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1511C>A	11.37:g.85694914G>T	ENSP00000377015:p.Ser504Tyr	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	79	3	NM_007166	0	0	0	0	0	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.27|18.27|18.27	3.586929|3.586929|3.586929	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000073921|ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961;ENST00000530542|ENST00000530692;ENST00000529016|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|.|T;T;T;T;T	.|.|0.39787	.|.|1.06;1.06;1.06;1.06;1.06	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	.|.|0.180058	.|.|0.49305	.|.|D	.|.|0.000144	T|T|T	0.62196|0.62196|0.62196	0.2408|0.2408|0.2408	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.58432|0.58432|0.58432	D|D|D	0.999994|0.999994|0.999994	.|.|P;D;P;P;P;P	.|.|0.71674	.|.|0.766;0.998;0.713;0.811;0.911;0.697	.|.|B;D;B;P;B;B	.|.|0.79108	.|.|0.125;0.992;0.359;0.476;0.391;0.223	T|T|T	0.55909|0.55909|0.55909	-0.8066|-0.8066|-0.8066	5|5|9	.|.|.	.|.|.	.|.|.	-7.0121|-7.0121|-7.0121	20.1434|20.1434|20.1434	0.98067|0.98067|0.98067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|403;86;504;497;504;454	.|.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.|.;.;.;.;PICAL_HUMAN;.	L|M|Y	156;10;112;206|38;151|454;497;504;504;403;504	.|.|ENSP00000436958:S454Y;ENSP00000433846:S497Y;ENSP00000377015:S504Y;ENSP00000434884:S403Y;ENSP00000348718:S504Y	.|.|.	F|L|S	-|-|-	3|1|2	2|2|0	PICALM|PICALM|PICALM	85372562|85372562|85372562	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	8.739000|8.739000|8.739000	0.91574|0.91574|0.91574	2.769000|2.769000|2.769000	0.95229|0.95229|0.95229	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTG|TCT	.		0.308	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		T	85694914	G	T	85694914	3	4	52	1	0	0	0	0	1	0	0	0	11919	942	33	3	503	3	PICALM	11	85694914	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7809657	85694914	49311602	395	11046											
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	92616519	92616519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctgccgctccgactgCgactccatccggaagaatgg	10	16	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:92616519C>T	ENST00000298047.6	+	23	12914	c.12897C>T	c.(12895-12897)tgC>tgT	p.C4299C	FAT3_ENST00000533797.1_Silent_p.C634C|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.C4149C|FAT3_ENST00000409404.2_Silent_p.C4299C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4299					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)				GCTCCGACTGCGACTCCATCC	0.662										TCGA Ovarian(4;0.039)																											p.C4299C		.											.	FAT3-73	0			c.C12897T						.						26	29	28					11																	92616519		1980	4039	6019	SO:0001819	synonymous_variant	120114	exon23			CGACTGCGACTCC	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.12897C>T	11.37:g.92616519C>T		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	162	128	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																				.		0.662	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92616519	C	T	92616519	2	4	52	1	0	0	0	0	0	0	0	1	5713	776	27	1		1	FAT3	11	92616519	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6921605	92616519	42389997	396	11047											
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	108138056	108138056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacgaacctggagagagCcaaagtaccataggtaaata	10	8	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:108138056C>T	ENST00000452508.2	+	18	2814	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	ATM_ENST00000278616.4_Silent_p.S875S|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	875					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)	CTGGAGAGAGCCAAAGTACCA	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.S875S		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	ATM-3419	0			c.C2625T						.						90	87	88					11																	108138056		2201	4298	6499	SO:0001819	synonymous_variant	472	exon17	Familial Cancer Database	AT, Louis-Bar syndrome	AGAGAGCCAAAGT	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.2625C>T	11.37:g.108138056C>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	74	14	NM_000051	0	0	0	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																			.		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108138056	C	T	108138056	2	4	52	1	0	0	0	0	0	0	0	1	1110	738	26	3		3	ATM	11	108138056	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	15521537	108138056	26868460	397	11048											
DIXDC1	85458	broad.mit.edu;bcgsc.ca	37	chr11	111865744	111865744	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcatgctgctgtaggCgaccaactacaacagtcaca	7	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:111865744C>T	ENST00000440460.2	+	16	1733	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Splice_Site_p.A268V	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	480					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CTGCTGTAGGCGACCAACTAC	0.423																																					.		.											.	DIXDC1-91	0			.						.						131	126	127					11																	111865744		1957	4159	6116	SO:0001630	splice_region_variant	85458	.			TGTAGGCGACCAA	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1435-1C>T	11.37:g.111865744C>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	71	5	.	0	0	0	0	0	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Splice_Site	SNP	ENST00000440460.2	37		.	.	.	.	.	.	.	.	.	.	C	0.014	-1.601569	0.00849	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.68765	-0.35;1.07	5.33	3.02	0.34903	.	0.316645	0.33670	N	0.004672	T	0.37376	0.1001	.	.	.	0.20307	N	0.999917	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27571	-1.0070	9	0.02654	T	1	-34.1631	8.4272	0.32735	0.0:0.1542:0.0:0.8458	.	145;268;480	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	V	479;268	ENSP00000394352:A479V;ENSP00000314068:A268V	ENSP00000314068:A268V	A	+	2	0	DIXDC1	111370954	1.000000	0.71417	0.892000	0.35008	0.018000	0.09664	1.248000	0.32827	0.486000	0.27676	-1.027000	0.02421	GCG	.		0.423	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954	Missense_Mutation	T	111865744	C	T	111865744	5	4	52	1	0	0	0	0	0	0	1	0	4555	782	27	1	1523	1	DIXDC1	11	111865744	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3727688	111865744	23140772	398	11049											
C11orf57	55216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	111953573	111953576	+	Frame_Shift_Del	DEL	AAAG	AAAG	-													actaagaaaaccaaaaggaaAaagagagagaaaaaagccca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AAAG	AAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:111953573_111953576delAAAG	ENST00000280352.9	+	6	1392_1395	c.756_759delAAAG	c.(754-759)aaaaagfs	p.KK252fs	C11orf57_ENST00000532163.1_Frame_Shift_Del_p.KK224fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.KK253fs|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.KK252fs|TIMM8B_ENST00000507614.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	252	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CCAAAAGGAAAAAGAGAGAGAAAA	0.402																																					p.253_254del		.											.	C11orf57-155	0			c.759_762del						.																																			SO:0001589	frameshift_variant	55216	exon6			AAGGAAAAAGAGA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.756_759delAAAG	11.37:g.111953573_111953576delAAAG	ENSP00000339076:p.Lys252fs	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	22	19	NM_001082969	0	0	0	0	0	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	37	CCDS41715.1																																																																																			.		0.402	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		-	111953576	AAAG	-	111953573	7	5	52	1	0	1	0	1	0	0	0	0	1655	11	1	0	777	0	C11orf57	11	111953573	Frame_Shift_Del	DEL	AAAG	TCGA-OR-A5LJ-01A-11D-A29I-10	87829	111953573	23052943	399	11050											
TIMM8B	26521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	111956053	111956053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtacaatctgggcaaacCgactggtgatggcaagagtg	13	8	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:111956053C>T	ENST00000504148.2	-	2	289	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SDHD_ENST00000525291.1_5'Flank|SDHD_ENST00000526592.1_5'Flank|SDHD_ENST00000532699.1_5'Flank|SDHD_ENST00000528182.1_5'Flank|SDHD_ENST00000528021.1_5'Flank|SDHD_ENST00000375549.3_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.R88Q|SDHD_ENST00000528048.1_5'Flank|TIMM8B_ENST00000507614.1_5'UTR	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	73					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	zinc ion binding (GO:0008270)			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|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;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CTGGGCAAACCGACTGGTGAT	0.512																																					p.R88Q		.											.	TIMM8B-90	0			c.G263A						.						116	96	103					11																	111956053		2201	4297	6498	SO:0001583	missense	26521	exon2			GCAAACCGACTGG	AF150087	CCDS8357.1, CCDS8357.2	11q23.1-q23.2	2010-11-23	2001-11-28		ENSG00000150779	ENSG00000150779			11818	protein-coding gene	gene with protein product	"mitochondrial import inner membrane translocase subunit Tim8 B"	606659	"translocase of inner mitochondrial membrane 8 (yeast) homolog B"			10552927	Standard	NM_012459		Approved	TIM8B, DDP2, FLJ21744, MGC102866, MGC117373	uc001pmx.3	Q9Y5J9	OTTHUMG00000162261	ENST00000504148.2:c.218G>A	11.37:g.111956053C>T	ENSP00000422122:p.Arg73Gln	Somatic	148	1		WXS	Illumina GAIIx	Phase_I	96	81	NM_012459	1	0	6	106	99	B0YJA5|Q3KQS9|Q9UN04	Missense_Mutation	SNP	ENST00000504148.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.642661	0.96704	.	.	ENSG00000150779	ENST00000504148;ENST00000541231	T;T	0.65916	-0.18;-0.18	5.66	5.66	0.87406	.	0.054650	0.85682	N	0.000000	T	0.79173	0.4401	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.78513	-0.2175	9	0.46703	T	0.11	-29.3406	18.5699	0.91132	0.0:1.0:0.0:0.0	.	73	Q9Y5J9	TIM8B_HUMAN	Q	73;88	ENSP00000422122:R73Q;ENSP00000438455:R88Q	ENSP00000422122:R73Q	R	-	2	0	TIMM8B	111461263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.843000	0.75384	2.702000	0.92279	0.549000	0.68633	CGG	.		0.512	TIMM8B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000368270.2	NM_012459		T	111956053	C	T	111956053	3	4	52	1	0	0	0	0	1	0	0	0	15962	652	23	1	37	1	TIMM8B	11	111956053	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2480	111956053	23050463	400	11051											
DSCAML1	57453	broad.mit.edu;bcgsc.ca	37	chr11	117303148	117303148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcaaggagacgccaGtacagaagctctgtgggttg	17	7	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:117303148G>A	ENST00000321322.6	-	30	5280	c.5279C>T	c.(5278-5280)aCt>aTt	p.T1760I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T1490I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1700					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)		GGAGACGCCAGTACAGAAGCT	0.557																																					p.T1760I		.											.	DSCAML1-159	0			c.C5279T						.						210	152	172					11																	117303148		2201	4296	6497	SO:0001583	missense	57453	exon30			ACGCCAGTACAGA		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.5279C>T	11.37:g.117303148G>A	ENSP00000315465:p.Thr1760Ile	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	140	6	NM_020693	0	0	0	0	0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252186	0.59212	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.61274	0.15;0.12	5.96	5.96	0.96718	.	.	.	.	.	T	0.43545	0.1252	N	0.14661	0.345	0.58432	D	0.999998	P	0.35124	0.485	B	0.32677	0.15	T	0.30995	-0.9959	9	0.28530	T	0.3	.	20.0112	0.97449	0.0:0.0:1.0:0.0	.	1700	Q8TD84	DSCL1_HUMAN	I	1490;1760;1467	ENSP00000434335:T1490I;ENSP00000315465:T1760I	ENSP00000315465:T1760I	T	-	2	0	DSCAML1	116808358	1.000000	0.71417	0.377000	0.26055	0.706000	0.40770	7.876000	0.87215	2.826000	0.97356	0.655000	0.94253	ACT	.		0.557	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117303148	G	A	117303148	3	1	52	1	0	0	0	0	1	0	0	0	4783	1029	36	3	1078	3	DSCAML1	11	117303148	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5347095	117303148	17703368	401	11052											
CD3D	915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118210583	118210583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgacaatgatgccagCcacggtggctggatccagct	12	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:118210583C>T	ENST00000300692.4	-	3	449	c.313G>A	c.(313-315)Gct>Act	p.A105T	CD3D_ENST00000392884.2_Intron|CD3D_ENST00000529594.1_Missense_Mutation_p.A32T	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	105					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	ATGATGCCAGCCACGGTGGCT	0.552																																					p.A105T		.											.	CD3D-91	0			c.G313A						.						81	64	70					11																	118210583		2200	4296	6496	SO:0001583	missense	915	exon3			TGCCAGCCACGGT	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.313G>A	11.37:g.118210583C>T	ENSP00000300692:p.Ala105Thr	Somatic	235	0		WXS	Illumina GAIIx	Phase_I	161	134	NM_000732	0	0	6	6	0	A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716925	0.30413	.	.	ENSG00000167286	ENST00000300692;ENST00000529594	T;T	0.65178	0.78;-0.14	5.66	0.915	0.19366	.	0.563803	0.19542	N	0.111765	T	0.64864	0.2637	M	0.74546	2.27	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.61357	-0.7079	10	0.44086	T	0.13	-3.2852	2.809	0.05435	0.3847:0.3814:0.0:0.2339	.	105	P04234	CD3D_HUMAN	T	105;32	ENSP00000300692:A105T;ENSP00000437335:A32T	ENSP00000300692:A105T	A	-	1	0	CD3D	117715793	0.799000	0.28903	0.988000	0.46212	0.383000	0.30230	-0.073000	0.11468	0.278000	0.22164	-0.140000	0.14226	GCT	.		0.552	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		T	118210583	C	T	118210583	3	4	52	1	0	0	0	0	1	0	0	0	3017	739	26	3	214	3	CD3D	11	118210583	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	907435	118210583	16795933	402	11053											
TRIM29	23650	broad.mit.edu;bcgsc.ca	37	chr11	119983148	119983148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgttggacccaatccCgttgcctttgttgacgtaga	11	11	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:119983148C>T	ENST00000341846.5	-	9	2162	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000528870.1_Missense_Mutation_p.G114R|TRIM29_ENST00000524816.3_Missense_Mutation_p.G147R|TRIM29_ENST00000529044.1_Missense_Mutation_p.G320R|TRIM29_ENST00000541857.1_Missense_Mutation_p.G314R	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	581					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)		GACCCAATCCCGTTGCCTTTG	0.587																																					p.G581R		.											.	TRIM29-291	0			c.G1741A						.						182	141	155					11																	119983148		2199	4295	6494	SO:0001583	missense	23650	exon9			CAATCCCGTTGCC	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.1741G>A	11.37:g.119983148C>T	ENSP00000343129:p.Gly581Arg	Somatic	497	1		WXS	Illumina GAIIx	Phase_I	334	8	NM_012101	0	0	0	0	0	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.640211|3.640211	0.67244|0.67244	.|.	.|.	ENSG00000137699|ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000533302;ENST00000524816;ENST00000528870;ENST00000529044|ENST00000525327	T|.	0.54071|.	0.59|.	5.09|5.09	4.18|4.18	0.49190|0.49190	.|.	0.319968|.	0.26638|.	N|.	0.023279|.	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.989|.	T|T	0.19095|0.19095	-1.0316|-1.0316	9|5	.|.	.|.	.|.	.|.	10.6116|10.6116	0.45425|0.45425	0.0:0.9118:0.0:0.0882|0.0:0.9118:0.0:0.0882	.|.	314;320;581|.	B7Z8U9;E9PRL4;Q14134|.	.;.;TRI29_HUMAN|.	R|Q	581;314;162;147;114;320|173	ENSP00000343129:G581R|.	.|.	G|R	-|-	1|2	0|0	TRIM29|TRIM29	119488358|119488358	0.076000|0.076000	0.21285|0.21285	0.083000|0.083000	0.20561|0.20561	0.962000|0.962000	0.63368|0.63368	3.038000|3.038000	0.49783|0.49783	1.144000|1.144000	0.42321|0.42321	0.561000|0.561000	0.74099|0.74099	GGG|CGG	.		0.587	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		T	119983148	C	T	119983148	3	4	52	1	0	0	0	0	1	0	0	0	16551	652	23	1	29	1	TRIM29	11	119983148	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1772565	119983148	15023368	403	11054											
GRIK4	2900	broad.mit.edu	37	chr11	120852883	120852883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaatcgtggccatttttAtggctatgttggagttttta	10	5	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr11:120852883A>G	ENST00000527524.2	+	20	2751	c.2464A>G	c.(2464-2466)Atg>Gtg	p.M822V	GRIK4_ENST00000438375.2_Missense_Mutation_p.M822V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	822					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGCCATTTTTATGGCTATGTT	0.398																																					p.M822V		.											.	GRIK4-92	0			c.A2464G						.						235	237	236					11																	120852883		2203	4299	6502	SO:0001583	missense	2900	exon18			ATTTTTATGGCTA	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2464A>G	11.37:g.120852883A>G	ENSP00000435648:p.Met822Val	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	54	3	NM_014619	0	0	7	7	0	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	A	2.433	-0.330463	0.05314	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.08193	3.12;3.12	5.74	5.74	0.90152	.	0.036475	0.85682	D	0.000000	T	0.05777	0.0151	N	0.20530	0.585	0.52099	D	0.999945	B	0.02656	0.0	B	0.06405	0.002	T	0.12167	-1.0558	10	0.02654	T	1	.	15.7081	0.77602	1.0:0.0:0.0:0.0	.	822	Q16099	GRIK4_HUMAN	V	822	ENSP00000435648:M822V;ENSP00000404063:M822V	ENSP00000404063:M822V	M	+	1	0	GRIK4	120358093	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.207000	0.58480	2.182000	0.69389	0.533000	0.62120	ATG	.		0.398	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		G	120852883	A	G	120852883	3	3	52	1	0	0	0	0	1	0	0	0	6803	449	16	4	2534	4	GRIK4	11	120852883	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	869735	120852883	14153633	404	11055											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6230433	6230433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccatcaaaggtgttgaCgaagtcacttccgaaaaggc	10	11	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:6230433C>T	ENST00000261405.5	-	3	381	c.127G>A	c.(127-129)Gtc>Atc	p.V43I	VWF_ENST00000572068.1_Missense_Mutation_p.V80I|VWF_ENST00000545906.1_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	43	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGGTGTTGACGAAGTCACTT	0.572																																					p.V43I		.											.	VWF-163	0			c.G127A						.						82	71	75					12																	6230433		2203	4300	6503	SO:0001583	missense	7450	exon3			TGTTGACGAAGTC		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.127G>A	12.37:g.6230433C>T	ENSP00000261405:p.Val43Ile	Somatic	225	0		WXS	Illumina GAIIx	Phase_I	266	131	NM_000552	0	0	2	2	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	5.528	0.282423	0.10458	.	.	ENSG00000110799	ENST00000261405	T	0.58797	0.31	5.32	-3.74	0.04385	von Willebrand factor, type D domain (3);	0.573247	0.14443	N	0.319300	T	0.17831	0.0428	N	0.01091	-1.02	0.20703	N	0.999867	B;B;B	0.15930	0.0;0.015;0.0	B;B;B	0.20184	0.005;0.028;0.002	T	0.37430	-0.9706	10	0.02654	T	1	.	7.0242	0.24930	0.0:0.3512:0.1176:0.5312	.	43;80;43	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	I	43	ENSP00000261405:V43I	ENSP00000261405:V43I	V	-	1	0	VWF	6100694	1.000000	0.71417	0.939000	0.37840	0.271000	0.26615	0.607000	0.24209	-0.550000	0.06183	-0.959000	0.02639	GTC	.		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6230433	C	T	6230433	3	4	52	1	0	0	0	0	1	0	0	0	17295	536	19	1	8514	1	VWF	12	6230433	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		6230433	127621462	405	11056											
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6424203	6424203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgagctggaggtgagGctgcacactttcagcatgtt	13	10	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:6424203G>A	ENST00000396988.3	+	4	557	c.327G>A	c.(325-327)agG>agA	p.R109R	PLEKHG6_ENST00000536531.1_Silent_p.R109R|PLEKHG6_ENST00000011684.7_Silent_p.R109R|PLEKHG6_ENST00000449001.2_Silent_p.R77R	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	109						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGGAGGTGAGGCTGCACACTT	0.652																																					p.R109R		.											.	PLEKHG6-295	0			c.G327A						.						102	88	93					12																	6424203		2203	4300	6503	SO:0001819	synonymous_variant	55200	exon4			GGTGAGGCTGCAC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.327G>A	12.37:g.6424203G>A		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	184	77	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	CCDS8541.1																																																																																			.		0.652	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6424203	G	A	6424203	2	1	52	1	0	0	0	0	0	0	0	1	12113	1194	42	3		3	PLEKHG6	12	6424203	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	193770	6424203	127427692	406	11057											
GPR162	27239	bcgsc.ca	37	chr12	6933232	6933232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctctgcttcctagcGggcacacacatactcatggc	9	15	2	0	rs141636256	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:6933232G>A	ENST00000311268.3	+	2	955	c.168G>A	c.(166-168)gcG>gcA	p.A56A	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTTCCTAGCGGGCACACACA	0.602													G|||	2	0.000399361	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0.001				p.A56A		.											.	GPR162-92	0			c.G168A						.	G	,	0,4406		0,0,2203	69	56	60		,168	-1.6	1	12	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GPR162	NM_014449.1,NM_019858.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,56/589	6933232	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27239	exon2			CCTAGCGGGCACA	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.168G>A	12.37:g.6933232G>A		Somatic	121	2		WXS	Illumina GAIIx	Phase_I	151	59	NM_019858	0	0	9	9	0	Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																			G|1.000;A|0.000		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		A	6933232	G	A	6933232	2	1	52	1	0	0	0	0	0	0	0	1	6692	1103	39	1		1	GPR162	12	6933232	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	509029	6933232	126918663	407	11058											
CSDA	8531	hgsc.bcm.edu	37	chr12	10875525	10875525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggtgcccgtggctgcGggggccgcgtccccaccggg	19	17	0	0	rs1042085	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:10875525G>A	ENST00000228251.4	-	1	386	c.186C>T	c.(184-186)ccC>ccT	p.P62P	YBX3_ENST00000279550.7_Silent_p.P62P	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	62					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										ccgtggctgcgggggccgcgt	0.771													G|||	848	0.169329	0.0681	0.1282	5008	,	,		7327	0.374		0.0736	False		,,,				2504	0.2229				p.P62P		.											.	CSDA-586	0			c.C186T						.						2	3	3					12																	10875525		1633	3205	4838	SO:0001819	synonymous_variant	8531	exon1			GGCTGCGGGGGCC	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.186C>T	12.37:g.10875525G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_003651	0	0	2	4	2	B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	CCDS8630.1																																																																																			G|0.824;A|0.176		0.771	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		A	10875525	G	A	10875525	2	1	52	1	0	0	0	0	0	0	0	1	3936	1103	39	1		1	CSDA	12	10875525	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3942293	10875525	122976370	408	11059											
KIAA1467	57613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	13229066	13229066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaccaccggcacagtgaCggcttcagagggtgagtccc	12	14	1	3	rs142863695	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:13229066C>T	ENST00000197268.8	+	11	1751	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	544						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCACAGTGACGGCTTCAGAG	0.587													C|||	4	0.000798722	0.0015	0.0029	5008	,	,		20248	0		0	False		,,,				2504	0				p.T544M		.											.	KIAA1467-92	0			c.C1631T						.	C	MET/THR	11,4395	17.9+/-39.9	0,11,2192	131	98	109		1631	4.7	1	12	dbSNP_134	109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KIAA1467	NM_020853.1	81	0,15,6488	TT,TC,CC		0.0465,0.2497,0.1153	probably-damaging	544/623	13229066	15,12991	2203	4300	6503	SO:0001583	missense	57613	exon11			CAGTGACGGCTTC	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1631C>T	12.37:g.13229066C>T	ENSP00000197268:p.Thr544Met	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	186	84	NM_020853	0	0	0	0	0	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.53	3.413029	0.62511	0.002497	4.65E-4	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.69	4.72	0.59763	.	0.236110	0.45126	D	0.000397	T	0.47116	0.1428	L	0.47716	1.5	0.29750	N	0.836412	D	0.64830	0.994	P	0.55508	0.777	T	0.46789	-0.9166	9	0.51188	T	0.08	-15.9682	9.4592	0.38774	0.1566:0.757:0.0:0.0864	.	544	A2RU67	K1467_HUMAN	M	544;320	.	ENSP00000197268:T544M	T	+	2	0	KIAA1467	13120333	0.823000	0.29233	0.962000	0.40283	0.954000	0.61252	1.300000	0.33436	2.683000	0.91414	0.563000	0.77884	ACG	C|0.999;T|0.001		0.587	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		T	13229066	C	T	13229066	3	4	52	1	0	0	0	0	1	0	0	0	8262	536	19	1	1673	1	KIAA1467	12	13229066	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2353541	13229066	120622829	409	11060											
EPS8	2059	broad.mit.edu	37	chr12	15814975	15814975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccacatctctgtcaatGcgggctgccatcatctcagg	8	14	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:15814975G>A	ENST00000281172.5	-	9	1231	c.795C>T	c.(793-795)cgC>cgT	p.R265R	EPS8_ENST00000540613.1_Silent_p.R5R|EPS8_ENST00000543612.1_Silent_p.R265R|EPS8_ENST00000542903.1_Silent_p.R5R|EPS8_ENST00000543523.1_Silent_p.R265R	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	265					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTCTGTCAATGCGGGCTGCCA	0.388																																					p.R265R		.											.	EPS8-94	0			c.C795T						.						237	227	230					12																	15814975		2203	4300	6503	SO:0001819	synonymous_variant	2059	exon9			GTCAATGCGGGCT	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.795C>T	12.37:g.15814975G>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	118	4	NM_004447	0	0	1	1	0	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	CCDS31753.1																																																																																			.		0.388	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			A	15814975	G	A	15814975	2	1	52	1	0	0	0	0	0	0	0	1	5210	1306	46	3		3	EPS8	12	15814975	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2585909	15814975	118036920	410	11061											
TM7SF3	51768	bcgsc.ca	37	chr12	27152534	27152534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccccaagtaccaagtgcAtgtactctgctctggtctaa	8	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:27152534A>G	ENST00000343028.4	-	3	547	c.322T>C	c.(322-324)Tgc>Cgc	p.C108R	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	108						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TACCAAGTGCATGTACTCTGC	0.488																																					p.C108R		.											.	TM7SF3-92	0			c.T322C						.						157	137	144					12																	27152534		2203	4300	6503	SO:0001583	missense	51768	exon3			AAGTGCATGTACT	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.322T>C	12.37:g.27152534A>G	ENSP00000342322:p.Cys108Arg	Somatic	157	1		WXS	Illumina GAIIx	Phase_I	236	7	NM_016551	0	0	4	4	0	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913342	0.72983	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.4	4.4	0.53042	.	0.252664	0.41500	D	0.000867	T	0.49881	0.1583	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.56402	-0.7985	10	0.87932	D	0	-19.9011	14.1212	0.65189	1.0:0.0:0.0:0.0	.	108	Q9NS93	TM7S3_HUMAN	R	108;87;113	ENSP00000342322:C108R	ENSP00000342322:C108R	C	-	1	0	TM7SF3	27043801	0.996000	0.38824	0.996000	0.52242	0.958000	0.62258	3.902000	0.56310	1.988000	0.58038	0.528000	0.53228	TGC	.		0.488	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		G	27152534	A	G	27152534	3	3	52	1	0	0	0	0	1	0	0	0	16022	217	8	4	1430	4	TM7SF3	12	27152534	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	11337559	27152534	106699361	411	11062											
CCNT1	904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49086936	49086936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggattcagatagtcactAtaaggacgaacaaattcaaa	8	7	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:49086936A>G	ENST00000261900.3	-	9	2283	c.2061T>C	c.(2059-2061)taT>taC	p.Y687Y		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	687					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GATAGTCACTATAAGGACGAA	0.512																																					p.Y687Y		.											.	CCNT1-418	0			c.T2061C						.						128	119	122					12																	49086936		2203	4300	6503	SO:0001819	synonymous_variant	904	exon9			GTCACTATAAGGA	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.2061T>C	12.37:g.49086936A>G		Somatic	149	0		WXS	Illumina GAIIx	Phase_I	226	84	NM_001240	0	0	4	5	1	A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	CCDS8766.1																																																																																			.		0.512	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		G	49086936	A	G	49086936	2	3	52	1	0	0	0	0	0	0	0	1	2941	456	16	4		4	CCNT1	12	49086936	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	21934402	49086936	84764959	412	11063											
ADCY6	112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49170332	49170332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctgtggatgcccacgcGcatgttcacattcacacctg	9	16	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:49170332G>A	ENST00000307885.4	-	6	2108	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	ADCY6_ENST00000550422.1_Missense_Mutation_p.R472C|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Missense_Mutation_p.R472C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	472					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)|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)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|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)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATGCCCACGCGCATGTTCACA	0.617																																					p.R472C		.											.	ADCY6-90	0			c.C1414T						.						75	67	70					12																	49170332		2203	4300	6503	SO:0001583	missense	112	exon7			CCACGCGCATGTT		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1414C>T	12.37:g.49170332G>A	ENSP00000311405:p.Arg472Cys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	95	37	NM_020983	0	0	7	11	4	Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333792	0.81801	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.88277	-2.36;-2.36;-2.36	4.02	4.02	0.46733	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.97151	0.9069	H	0.99752	4.75	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	0.87932	D	0	.	15.4426	0.75200	0.0:0.0:1.0:0.0	.	472;472	O43306-2;O43306	.;ADCY6_HUMAN	C	472	ENSP00000350536:R472C;ENSP00000446730:R472C;ENSP00000311405:R472C	ENSP00000311405:R472C	R	-	1	0	ADCY6	47456599	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.204000	0.51082	2.239000	0.73571	0.313000	0.20887	CGC	.		0.617	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		A	49170332	G	A	49170332	3	1	52	1	0	0	0	0	1	0	0	0	298	1087	38	1	2156	1	ADCY6	12	49170332	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	83396	49170332	84681563	413	11064											
FKBP11	51303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	49318027	49318028	+	Frame_Shift_Del	DEL	CT	CT	-													ccacacacatgtcgagaagaCtctgctccagaccttgaaga							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:49318027_49318028delCT	ENST00000550765.1	-	4	693_694	c.295_296delAG	c.(295-297)agtfs	p.S99fs	AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000444214.2_5'UTR|FKBP11_ENST00000453172.2_Frame_Shift_Del_p.S99fs|CCDC65_ENST00000266984.5_Intron|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Frame_Shift_Del_p.S99fs	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	99	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						GTCGAGAAGACTCTGCTCCAGA	0.53																																					p.99_99del		.											.	FKBP11-226	0			c.295_296del						.																																			SO:0001589	frameshift_variant	51303	exon4			AGAAGACTCTGCT	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.295_296delAG	12.37:g.49318029_49318030delCT	ENSP00000449751:p.Ser99fs	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	158	69	NM_016594	0	0	0	0	0	B4DWB7	Frame_Shift_Del	DEL	ENST00000550765.1	37	CCDS8773.1																																																																																			.		0.53	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		-	49318028	CT	-	49318027	7	5	52	1	0	1	0	1	0	0	0	0	5925	565	20	0	378	0	FKBP11	12	49318027	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LJ-01A-11D-A29I-10	147695	49318027	84533868	414	11065											
ARF3	377	bcgsc.ca	37	chr12	49333524	49333524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcccgggcctcatttaCtcgctcccgatcattgctgt	7	16	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:49333524C>T	ENST00000256682.4	-	4	632	c.298G>A	c.(298-300)Gta>Ata	p.V100I	ARF3_ENST00000541959.1_Missense_Mutation_p.V100I|AC073610.5_ENST00000537495.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.V100I|ARF3_ENST00000447318.2_Missense_Mutation_p.V63I|ARF3_ENST00000541967.1_5'Flank	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	100					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GCCTCATTTACTCGCTCCCGA	0.537																																					p.V100I	Pancreas(189;1862 2134 4419 30933 49364)	.											.	ARF3-227	0			c.G298A						.						124	116	119					12																	49333524		2203	4300	6503	SO:0001583	missense	377	exon4			CATTTACTCGCTC	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.298G>A	12.37:g.49333524C>T	ENSP00000256682:p.Val100Ile	Somatic	211	0		WXS	Illumina GAIIx	Phase_I	248	7	NM_001659	0	0	128	133	5	A8K6G8|B7ZB63|P16587	Missense_Mutation	SNP	ENST00000256682.4	37	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660760	0.47572	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.19	4.28	0.50868	Small GTP-binding protein domain (1);	0.131104	0.50627	D	0.000113	T	0.21962	0.0529	N	0.00500	-1.43	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.005	T	0.37314	-0.9711	10	0.02654	T	1	.	14.0291	0.64604	0.1527:0.8473:0.0:0.0	.	63;100	B7ZB63;P61204	.;ARF3_HUMAN	I	100;100;63;100;100	ENSP00000438507:V100I;ENSP00000256682:V100I;ENSP00000395370:V63I;ENSP00000438510:V100I;ENSP00000438063:V100I	ENSP00000256682:V100I	V	-	1	0	ARF3	47619791	1.000000	0.71417	0.931000	0.37212	0.998000	0.95712	7.814000	0.86154	1.258000	0.44101	0.557000	0.71058	GTA	.		0.537	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		T	49333524	C	T	49333524	3	4	52	1	0	0	0	0	1	0	0	0	845	565	20	3	255	3	ARF3	12	49333524	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	15497	49333524	84518371	415	11066											
C1QL4	338761	broad.mit.edu	37	chr12	49729769	49729769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgctggtgccgtcgccGccgcgcatgagcacgtggta	14	14	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:49729769G>A	ENST00000334221.3	-	1	1202	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	164	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TGCCGTCGCCGCCGCGCATGA	0.617																																					p.G164G		.											.	C1QL4-90	0			c.C492T						.						37	40	39					12																	49729769		2202	4300	6502	SO:0001819	synonymous_variant	338761	exon1			GTCGCCGCCGCGC		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.492C>T	12.37:g.49729769G>A		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	165	6	NM_001008223	0	0	0	0	0		Silent	SNP	ENST00000334221.3	37	CCDS31793.1																																																																																			.		0.617	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		A	49729769	G	A	49729769	2	1	52	1	0	0	0	0	0	0	0	1	1968	1074	38	1		1	C1QL4	12	49729769	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	396245	49729769	84122126	416	11067											
CSRNP2	81566	broad.mit.edu;bcgsc.ca	37	chr12	51457707	51457707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggttacaatcttcgggcAatagagcttctagggtgggt	14	7	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:51457707A>G	ENST00000228515.1	-	5	1751	c.1454T>C	c.(1453-1455)tTg>tCg	p.L485S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	485					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ATCTTCGGGCAATAGAGCTTC	0.547																																					p.L485S		.											.	CSRNP2-90	0			c.T1454C						.						100	109	106					12																	51457707		2203	4300	6503	SO:0001583	missense	81566	exon5			TCGGGCAATAGAG	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1454T>C	12.37:g.51457707A>G	ENSP00000228515:p.Leu485Ser	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	157	7	NM_030809	0	0	46	47	1		Missense_Mutation	SNP	ENST00000228515.1	37	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728368	0.30593	.	.	ENSG00000110925	ENST00000228515	T	0.53423	0.62	4.91	4.91	0.64330	.	0.308893	0.23606	N	0.046391	T	0.25865	0.0630	N	0.14661	0.345	0.24195	N	0.99554	B	0.19817	0.039	B	0.22386	0.039	T	0.19063	-1.0317	10	0.10111	T	0.7	-0.6283	7.4418	0.27187	0.9045:0.0:0.0955:0.0	.	485	Q9H175	CSRN2_HUMAN	S	485	ENSP00000228515:L485S	ENSP00000228515:L485S	L	-	2	0	CSRNP2	49743974	0.879000	0.30193	0.904000	0.35570	0.823000	0.46562	1.584000	0.36589	2.202000	0.70862	0.454000	0.30748	TTG	.		0.547	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			G	51457707	A	G	51457707	3	3	52	1	0	0	0	0	1	0	0	0	3973	131	5	4	181	4	CSRNP2	12	51457707	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1727938	51457707	82394188	417	11068											
KRT71	112802	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	52946699	52946699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggccacattgaggctccGgacaccccccaggctgtaga	11	15	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:52946699G>A	ENST00000267119.5	-	1	232	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	55	Gly-rich.|Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTGAGGCTCCGGACACCCCCC	0.652																																					p.R55W		.											.	KRT71-92	0			c.C163T						.						57	67	63					12																	52946699		2203	4300	6503	SO:0001583	missense	112802	exon1			GGCTCCGGACACC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.163C>T	12.37:g.52946699G>A	ENSP00000267119:p.Arg55Trp	Somatic	70	1		WXS	Illumina GAIIx	Phase_I	96	9	NM_033448	0	0	0	0	0	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	7.577	0.667883	0.14710	.	.	ENSG00000139648	ENST00000267119	T	0.76186	-1.0	5.1	3.24	0.37175	.	0.191592	0.25104	N	0.033117	T	0.76550	0.4003	M	0.85710	2.77	0.23459	N	0.997633	B	0.22480	0.07	B	0.17722	0.019	T	0.69993	-0.4994	10	0.87932	D	0	.	14.0232	0.64571	0.0:0.0:0.5423:0.4577	.	55	Q3SY84	K2C71_HUMAN	W	55	ENSP00000267119:R55W	ENSP00000267119:R55W	R	-	1	2	KRT71	51232966	0.000000	0.05858	0.979000	0.43373	0.124000	0.20399	-0.323000	0.07997	0.631000	0.30412	-0.310000	0.09108	CGG	.		0.652	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		A	52946699	G	A	52946699	3	1	52	1	0	0	0	0	1	0	0	0	8511	1115	39	1	1444	1	KRT71	12	52946699	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1488992	52946699	80905196	418	11069											
KRT76	51350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53170942	53170942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctccgctcctgaagCcacaggcccctccaccagct	8	20	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:53170942C>T	ENST00000332411.2	-	1	187	c.134G>A	c.(133-135)gGc>gAc	p.G45D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	45	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCCTGAAGCCACAGGCCCC	0.662																																					p.G45D		.											.	KRT76-154	0			c.G134A						.						50	66	61					12																	53170942		2203	4300	6503	SO:0001583	missense	51350	exon1			CTGAAGCCACAGG	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.134G>A	12.37:g.53170942C>T	ENSP00000330101:p.Gly45Asp	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	124	56	NM_015848	0	0	0	0	0	B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	11.38	1.622717	0.28889	.	.	ENSG00000185069	ENST00000332411	D	0.93953	-3.32	4.47	4.47	0.54385	.	0.000000	0.47455	D	0.000235	D	0.92348	0.7572	M	0.64404	1.975	0.47153	D	0.999337	B	0.25904	0.137	B	0.30855	0.121	D	0.91040	0.4870	10	0.59425	D	0.04	.	16.1756	0.81847	0.0:1.0:0.0:0.0	.	45	Q01546	K22O_HUMAN	D	45	ENSP00000330101:G45D	ENSP00000330101:G45D	G	-	2	0	KRT76	51457209	0.001000	0.12720	0.378000	0.26068	0.113000	0.19764	0.938000	0.28965	2.775000	0.95449	0.555000	0.69702	GGC	.		0.662	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		T	53170942	C	T	53170942	3	4	52	1	0	0	0	0	1	0	0	0	8516	739	26	3	1818	3	KRT76	12	53170942	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	224243	53170942	80680953	419	11070											
SOAT2	8435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	53497419	53497419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagggctgggaggggagCgggagcgccaaccctgtgga	20	9	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:53497419C>T	ENST00000301466.3	+	1	118	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	20					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)	GGGAGGGGAGCGGGAGCGCCA	0.697																																					p.R20W		.											.	SOAT2-91	0			c.C58T						.						12	14	14					12																	53497419		1836	3505	5341	SO:0001583	missense	8435	exon1			GGGGAGCGGGAGC	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.58C>T	12.37:g.53497419C>T	ENSP00000301466:p.Arg20Trp	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	101	8	NM_003578	0	0	0	0	0	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387725	0.42308	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.47528	0.84;1.87	4.97	2.06	0.26882	.	0.767540	0.12009	N	0.508108	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	P	0.44260	0.83	B	0.29942	0.109	T	0.05818	-1.0862	10	0.59425	D	0.04	-3.3173	7.9123	0.29798	0.3267:0.5154:0.1579:0.0	.	20	O75908	SOAT2_HUMAN	W	20	ENSP00000450120:R20W;ENSP00000301466:R20W	ENSP00000301466:R20W	R	+	1	2	SOAT2	51783686	0.012000	0.17670	0.012000	0.15200	0.074000	0.17049	1.202000	0.32271	0.352000	0.24053	0.563000	0.77884	CGG	.		0.697	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			T	53497419	C	T	53497419	3	4	52	1	0	0	0	0	1	0	0	0	14956	759	27	1	60	1	SOAT2	12	53497419	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	326477	53497419	80354476	420	11071											
MAP3K12	7786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	53876621	53876621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccgcctgtggccccccGgccccgggaccctagtgctg	13	19	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:53876621G>A	ENST00000267079.2	-	12	2092	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R656W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R656W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	623					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GTGGCCCCCCGGCCCCGGGAC	0.687																																					p.R656W		.											.	MAP3K12-604	0			c.C1966T						.						24	30	28					12																	53876621		2190	4276	6466	SO:0001583	missense	7786	exon11			CCCCCCGGCCCCG	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1867C>T	12.37:g.53876621G>A	ENSP00000267079:p.Arg623Trp	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	54	8	NM_001193511	0	0	12	17	5	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486424	0.84854	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.80123	-1.32;-1.34;-1.34	4.14	4.14	0.48551	.	0.376508	0.19673	N	0.108712	D	0.82536	0.5058	L	0.29908	0.895	0.51767	D	0.999937	D;D	0.76494	0.999;0.999	D;D	0.71414	0.942;0.973	D	0.83571	0.0112	10	0.87932	D	0	.	12.2031	0.54337	0.0:0.0:1.0:0.0	.	656;623	G3V1Y2;Q12852	.;M3K12_HUMAN	W	623;656;656	ENSP00000267079:R623W;ENSP00000449038:R656W;ENSP00000448689:R656W	ENSP00000267079:R623W	R	-	1	2	MAP3K12	52162888	0.997000	0.39634	1.000000	0.80357	0.927000	0.56198	2.053000	0.41326	2.604000	0.88044	0.491000	0.48974	CGG	.		0.687	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		A	53876621	G	A	53876621	3	1	52	1	0	0	0	0	1	0	0	0	9284	1115	39	1	728	1	MAP3K12	12	53876621	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	379202	53876621	79975274	421	11072											
ATF7	11016	bcgsc.ca	37	chr12	53946410	53946410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgccaggtggtcctcGtttgtaaatctctgaaacga	10	9	1	2	rs33921258	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:53946410G>A	ENST00000548446.2	-	3	172	c.60C>T	c.(58-60)aaC>aaT	p.N20N	ATF7_ENST00000591397.1_Silent_p.N20N|ATF7_ENST00000548118.2_Silent_p.N20N|ATF7_ENST00000456903.4_Silent_p.N20N|ATF7_ENST00000328463.7_Silent_p.N20N|ATF7_ENST00000415113.1_Silent_p.N20N|ATF7_ENST00000420353.2_Silent_p.N20N|RP11-793H13.10_ENST00000591834.1_Silent_p.N20N			P17544	ATF7_HUMAN	activating transcription factor 7	20	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GGTGGTCCTCGTTTGTAAATC	0.418													G|||	213	0.0425319	0.0023	0.0634	5008	,	,		19842	0.0228		0.1153	False		,,,				2504	0.0276				p.N20N		.											.	ATF7-455	0			c.C60T						.	G	,,,,	78,3680		0,78,1801	109	103	105		60,60,60,60,60	0.4	1	12	dbSNP_126	105	878,7348		53,772,3288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATF7	NM_001130059.1,NM_001130060.1,NM_001206682.1,NM_001206683.1,NM_006856.2	,,,,	53,850,5089	AA,AG,GG		10.6735,2.0756,7.9773	,,,,	20/495,20/463,20/118,20/118,20/484	53946410	956,11028	1879	4113	5992	SO:0001819	synonymous_variant	11016	exon3			GTCCTCGTTTGTA	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.60C>T	12.37:g.53946410G>A		Somatic	80	2		WXS	Illumina GAIIx	Phase_I	125	56	NM_001130060	0	0	0	0	0	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37																																																																																				G|0.934;A|0.066		0.418	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		A	53946410	G	A	53946410	2	1	52	1	0	0	0	0	0	0	0	1	1087	1136	40	1		1	ATF7	12	53946410	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	69789	53946410	79905485	422	11073											
NACA	4666	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57113563	57113564	+	Frame_Shift_Del	DEL	AG	AG	-													ctagggtggcttcaggagaaAgaggtatctctggagaagag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:57113563_57113564delAG	ENST00000454682.1	-	3	2031_2032	c.1750_1751delCT	c.(1750-1752)cttfs	p.L584fs	NACA_ENST00000550952.1_Frame_Shift_Del_p.L584fs|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	584	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						TTCAGGAGAAAGAGGTATCTCT	0.505			T	BCL6	NHL																																p.584_584del		.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA-254	0			c.1750_1751del						.																																			SO:0001589	frameshift_variant	4666	exon3			GGAGAAAGAGGTA	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.1750_1751delCT	12.37:g.57113565_57113566delAG	ENSP00000403817:p.Leu584fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	104	42	NM_001113203	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000454682.1	37																																																																																				.		0.505	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		-	57113564	AG	-	57113563	7	5	52	1	0	1	0	1	0	0	0	0	10171	72	3	0	4513	0	NACA	12	57113563	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LJ-01A-11D-A29I-10	3167153	57113563	76738332	423	11074											
TAC3	6866	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57409529	57409530	+	Frame_Shift_Del	DEL	CT	CT	-													ccttacagacagccccaaagCtctgagctaggctgaaggcc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:57409529_57409530delCT	ENST00000458521.2	-	2	211_212	c.52_53delAG	c.(52-54)agcfs	p.S18fs	TAC3_ENST00000415231.1_Frame_Shift_Del_p.S18fs|TAC3_ENST00000441881.1_Frame_Shift_Del_p.S18fs	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	18					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGCCCCAAAGCTCTGAGCTAGG	0.589																																					p.18_18del		.											.	TAC3-92	0			c.52_53del						.																																			SO:0001589	frameshift_variant	6866	exon2			CCAAAGCTCTGAG	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.52_53delAG	12.37:g.57409531_57409532delCT	ENSP00000404056:p.Ser18fs	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	111	52	NM_013251	0	0	0	0	0	Q6IAG2|Q71BC6|Q71BC9	Frame_Shift_Del	DEL	ENST00000458521.2	37	CCDS8928.1																																																																																			.		0.589	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		-	57409530	CT	-	57409529	7	5	52	1	0	1	0	1	0	0	0	0	15546	797	28	0	332	0	TAC3	12	57409529	Frame_Shift_Del	DEL	CT	TCGA-OR-A5LJ-01A-11D-A29I-10	295966	57409529	76442366	424	11075											
KIF5A	3798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57963112	57963112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgggggaaactgccggaCgactatgttcatctgttgct	12	10	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:57963112C>T	ENST00000455537.2	+	10	1167	c.893C>T	c.(892-894)aCg>aTg	p.T298M	KIF5A_ENST00000286452.5_Missense_Mutation_p.T209M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	298	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						AACTGCCGGACGACTATGTTC	0.522																																					p.T298M		.											.	KIF5A-517	0			c.C893T						.						72	70	71					12																	57963112		2203	4300	6503	SO:0001583	missense	3798	exon10			GCCGGACGACTAT	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.893C>T	12.37:g.57963112C>T	ENSP00000408979:p.Thr298Met	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	156	69	NM_004984	0	0	0	1	1	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161388	0.78226	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.77750	-1.12;-1.12	4.23	4.23	0.50019	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93255	0.6638	10	0.87932	D	0	.	15.9283	0.79639	0.0:1.0:0.0:0.0	.	209;298	B7Z2M7;Q12840	.;KIF5A_HUMAN	M	298;209	ENSP00000408979:T298M;ENSP00000286452:T209M	ENSP00000286452:T209M	T	+	2	0	KIF5A	56249379	1.000000	0.71417	0.942000	0.38095	0.773000	0.43773	7.374000	0.79633	2.362000	0.80069	0.555000	0.69702	ACG	.		0.522	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57963112	C	T	57963112	3	4	52	1	0	0	0	0	1	0	0	0	8332	536	19	1	931	1	KIF5A	12	57963112	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	553583	57963112	75888783	425	11076											
SLC16A7	9194	broad.mit.edu	37	chr12	60173233	60173233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatttaactggagaatatAaatacatgtacatgtcctgt	8	5	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:60173233A>G	ENST00000261187.4	+	5	1374	c.1210A>G	c.(1210-1212)Aaa>Gaa	p.K404E	SLC16A7_ENST00000547379.1_Missense_Mutation_p.K404E|SLC16A7_ENST00000543448.1_Missense_Mutation_p.K305E|SLC16A7_ENST00000552024.1_Missense_Mutation_p.K404E|SLC16A7_ENST00000552432.1_Missense_Mutation_p.K404E	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	404					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGGAGAATATAAATACATGTA	0.348																																					p.K404E		.											.	SLC16A7-91	0			c.A1210G						.						64	63	63					12																	60173233		2203	4299	6502	SO:0001583	missense	9194	exon6			GAATATAAATACA	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1210A>G	12.37:g.60173233A>G	ENSP00000261187:p.Lys404Glu	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	56	5	NM_001270622	0	0	1	1	0	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	A	8.069	0.769737	0.15983	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.26	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.144842	0.64402	N	0.000011	T	0.36635	0.0974	M	0.86268	2.805	0.45806	D	0.998684	B	0.23854	0.092	B	0.27262	0.078	T	0.16424	-1.0403	9	.	.	.	.	7.9149	0.29812	0.7773:0.1473:0.0754:0.0	.	404	O60669	MOT2_HUMAN	E	404;404;404;404;404;305	ENSP00000449547:K404E;ENSP00000448071:K404E;ENSP00000448742:K404E;ENSP00000446722:K404E;ENSP00000261187:K404E;ENSP00000443731:K305E	.	K	+	1	0	SLC16A7	58459500	1.000000	0.71417	0.899000	0.35326	0.059000	0.15707	2.909000	0.48758	0.943000	0.37553	0.482000	0.46254	AAA	.		0.348	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		G	60173233	A	G	60173233	3	3	52	1	0	0	0	0	1	0	0	0	14458	363	13	4	1224	4	SLC16A7	12	60173233	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	2210121	60173233	73678662	426	11077											
BEST3	144453	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-													ttccaggtgggtgaggccctGggggggtttcttgagggcac							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)cccfs	p.P444fs	BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444					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)			GTGAGGCCCTGGGGGGGTTTC	0.592																																					p.P444fs		.											.	BEST3-248	0			c.1332delC						.						76	78	78					12																	70049362		1929	4152	6081	SO:0001589	frameshift_variant	144453	exon10			GGCCCTGGGGGGG	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.1332delC	12.37:g.70049362delG	ENSP00000332413:p.Pro444fs	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	59	17	NM_032735	0	0	0	0	0	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	CCDS8992.2																																																																																			.		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		-	70049362	G	-	70049362	7	5	52	1	0	1	0	1	0	0	0	0	1407	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9876129	70049362	63802533	427	11078											
ZDHHC17	23390	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	77222254	77222255	+	Frame_Shift_Ins	INS	-	-	T													ggatgtatgtgacgtggttcINSttctggttttggaatgatat							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:77222254_77222255insT	ENST00000426126.2	+	10	1774_1775	c.1125_1126insT	c.(1126-1128)ttcfs	p.F376fs	ZDHHC17_ENST00000334822.5_Frame_Shift_Ins_p.F376fs	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	376					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						TGACGTGGTTCTTCTGGTTTTG	0.327																																					p.F375fs		.											.	.	0			c.1125_1126insT						.																																			SO:0001589	frameshift_variant	23390	exon10			GTGGTTCTTCTGG	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.1127dupT	12.37:g.77222256_77222256dupT	ENSP00000403397:p.Phe376fs	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	108	41	NM_015336	0	0	0	0	0	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Frame_Shift_Ins	INS	ENST00000426126.2	37	CCDS44946.1																																																																																			.		0.327	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		T	77222255	-	T	77222254	7	5	52	1	0	1	1	0	0	0	0	0	17655	912	32	0	1163	0	ZDHHC17	12	77222254	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	7172892	77222254	56629641	428	11079											
NAV3	89795	broad.mit.edu	37	chr12	78400316	78400316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgccagcaagccctggcGcagcaagtccatgaatgtca	11	12	1	1	rs557942798		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:78400316G>A	ENST00000397909.2	+	8	1171	c.998G>A	c.(997-999)cGc>cAc	p.R333H	NAV3_ENST00000266692.7_Missense_Mutation_p.R333H|NAV3_ENST00000228327.6_Missense_Mutation_p.R333H|NAV3_ENST00000536525.2_Missense_Mutation_p.R333H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	333						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R333H(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGCCCTGGCGCAGCAAGTCC	0.552										HNSCC(70;0.22)																											p.R333H		.											.	NAV3-279	1	Substitution - Missense(1)	large_intestine(1)	c.G998A						.						58	61	60					12																	78400316		2089	4222	6311	SO:0001583	missense	89795	exon8			CCTGGCGCAGCAA	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.998G>A	12.37:g.78400316G>A	ENSP00000381007:p.Arg333His	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	214	6	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	32	5.127584	0.94473	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.000000	0.41097	U	0.000949	T	0.62829	0.2460	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.64381	-0.6421	10	0.87932	D	0	-13.2715	19.3844	0.94551	0.0:0.0:1.0:0.0	.	333;333	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	333	ENSP00000446628:R333H;ENSP00000446132:R333H;ENSP00000381007:R333H;ENSP00000228327:R333H;ENSP00000266692:R333H	ENSP00000228327:R333H	R	+	2	0	NAV3	76924447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.619000	0.98369	2.575000	0.86900	0.561000	0.74099	CGC	.		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78400316	G	A	78400316	3	1	52	1	0	0	0	0	1	0	0	0	10223	1087	38	1	1028	1	NAV3	12	78400316	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1178062	78400316	55451579	429	11080											
CEP290	80184	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	88508192	88508210	+	Splice_Site	DEL	CTTACATTAACTAGTCTTT	CTTACATTAACTAGTCTTT	-													cattaacatgaaaaaaataaCttacattaactagtctttca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CTTACATTAACTAGTCTTT	CTTACATTAACTAGTCTTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:88508192_88508210delCTTACATTAACTAGTCTTT	ENST00000552810.1	-	20	2382_2396	c.2039_2053delAAAGACTAGTTAATGTAAG	c.(2038-2055)gaaagactagttaatgta>gta	p.ERLVN680fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Splice_Site_p.ERLVN682fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	680					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						aaaaaaataacTTACATTAACTAGTCTTTCAAGGCTAGG	0.324																																					p.680_684del		.											.	CEP290-96	0			c.2039_2052del						.																																			SO:0001630	splice_region_variant	80184	exon20			AAATAACTTACAT	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.2052+1AAAGACTAGTTAATGTAAG>-	12.37:g.88508192_88508210delCTTACATTAACTAGTCTTT		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	41	9	NM_025114	0	0	0	0	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																			.		0.324	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	Frame_Shift_Del	-	88508210	CTTACATTAACTAGTCTTT	-	88508192	8	5	52	1	0	1	0	1	0	0	1	0	3260	580	20	0		0	CEP290	12	88508192	Splice_Site	DEL	CTTACATTAACTAGTCTTT	TCGA-OR-A5LJ-01A-11D-A29I-10	10107876	88508192	45343703	430	11081											
GNPTAB	79158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	102158675	102158675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttaaacttcgggaagcGtttttctttgggaatatcct	8	8	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:102158675G>A	ENST00000299314.7	-	13	2282	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	674					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						TTCGGGAAGCGTTTTTCTTTG	0.418																																					p.R674C		.											.	GNPTAB-92	0			c.C2020T						.						69	70	70					12																	102158675		2203	4300	6503	SO:0001583	missense	79158	exon13			GGAAGCGTTTTTC	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.2020C>T	12.37:g.102158675G>A	ENSP00000299314:p.Arg674Cys	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	35	16	NM_024312	0	0	1	3	2	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738367	0.69304	.	.	ENSG00000111670	ENST00000299314	D	0.97209	-4.29	5.96	5.96	0.96718	.	0.220091	0.49305	D	0.000149	D	0.96716	0.8928	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.54706	0.759	D	0.97000	0.9728	10	0.72032	D	0.01	-16.9783	20.422	0.99049	0.0:0.0:1.0:0.0	.	674	Q3T906	GNPTA_HUMAN	C	674	ENSP00000299314:R674C	ENSP00000299314:R674C	R	-	1	0	GNPTAB	100682806	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	9.117000	0.94347	2.832000	0.97577	0.655000	0.94253	CGC	.		0.418	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102158675	G	A	102158675	3	1	52	1	0	0	0	0	1	0	0	0	6571	1145	40	1	1786	1	GNPTAB	12	102158675	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	13650483	102158675	31693220	431	11082											
IFT81	28981	bcgsc.ca	37	chr12	110630488	110630488	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagttataaaagagctaCgacagttgcgtcaaaaatat	7	8	2	1	rs200335504		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:110630488C>T	ENST00000242591.5	+	14	2040	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	IFT81_ENST00000552912.1_Nonsense_Mutation_p.R512*	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	512					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAAAGAGCTACGACAGTTGCG	0.284																																					p.R512X		.											.	IFT81-91	0			c.C1534T						.	C	stop/ARG,stop/ARG	0,3580		0,0,1790	79	77	77		1534,1534	3.9	1	12		77	1,8139		0,1,4069	yes	stop-gained,stop-gained	IFT81	NM_001143779.1,NM_014055.3	,	0,1,5859	TT,TC,CC		0.0123,0.0,0.0085	,	512/677,512/677	110630488	1,11719	1790	4070	5860	SO:0001587	stop_gained	28981	exon14			GAGCTACGACAGT	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1534C>T	12.37:g.110630488C>T	ENSP00000242591:p.Arg512*	Somatic	156	4		WXS	Illumina GAIIx	Phase_I	201	64	NM_014055	0	0	7	7	0	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Nonsense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621294	0.96660	0.0	1.23E-4	ENSG00000122970	ENST00000552912;ENST00000242591	.	.	.	5.93	3.91	0.45181	.	0.103499	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9378	13.7686	0.63010	0.4193:0.5807:0.0:0.0	.	.	.	.	X	512	.	ENSP00000242591:R512X	R	+	1	2	IFT81	109114871	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.260000	0.51523	1.458000	0.47871	0.655000	0.94253	CGA	.		0.284	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		T	110630488	C	T	110630488	4	4	52	1	0	0	0	0	0	1	0	0	7592	528	19	1	1696	1	IFT81	12	110630488	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8471813	110630488	23221407	432	11083											
ATP2A2	488	hgsc.bcm.edu;bcgsc.ca	37	chr12	110784062	110784064	+	In_Frame_Del	DEL	CTC	CTC	-													tggctgatggtgctgaaaatCtccttgcccgtgattctcat							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:110784062_110784064delCTC	ENST00000539276.2	+	20	3025_3027	c.2916_2918delCTC	c.(2914-2919)atctcc>atc	p.S973del	ATP2A2_ENST00000308664.6_In_Frame_Del_p.S973del|ATP2A2_ENST00000395494.2_In_Frame_Del_p.S946del			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	973					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTGAAAATCTCCTTGCCCGTG	0.562																																					p.972_973del		.											.	ATP2A2-94	0			c.2916_2918del						.																																			SO:0001651	inframe_deletion	488	exon20			GAAAATCTCCTTG		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2916_2918delCTC	12.37:g.110784062_110784064delCTC	ENSP00000440045:p.Ser973del	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	268	107	NM_001681	0	0	0	0	0	A6NDN7|B4DF05|P16614|Q86VJ2	In_Frame_Del	DEL	ENST00000539276.2	37	CCDS9144.1																																																																																			.		0.562	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		-	110784064	CTC	-	110784062	7	5	52	1	0	1	0	1	0	0	0	0	1138	903	32	0	2994	0	ATP2A2	12	110784062	In_Frame_Del	DEL	CTC	TCGA-OR-A5LJ-01A-11D-A29I-10	153574	110784062	23067833	433	11084											
OAS3	4940	bcgsc.ca	37	chr12	113400607	113400607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggacggtgctggggctcGtgcaacagcatcagcagctc	14	13	1	0	rs201723513		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:113400607G>A	ENST00000228928.7	+	9	2163	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	662	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTGGGGCTCGTGCAACAGCA	0.577																																					p.V662M		.											.	OAS3-1	0			c.G1984A						.	G	MET/VAL	0,4120		0,0,2060	120	130	126		1984	-0.2	0	12		126	2,8430		0,2,4214	yes	missense	OAS3	NM_006187.2	21	0,2,6274	AA,AG,GG		0.0237,0.0,0.0159	benign	662/1088	113400607	2,12550	2060	4216	6276	SO:0001583	missense	4940	exon9			GGGCTCGTGCAAC	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1984G>A	12.37:g.113400607G>A	ENSP00000228928:p.Val662Met	Somatic	245	4		WXS	Illumina GAIIx	Phase_I	280	129	NM_006187	0	0	1	4	3	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797863	0.31777	0.0	2.37E-4	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.54479	0.57	4.1	-0.235	0.13071	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48786	0.1519	M	0.84219	2.685	0.09310	N	1	P	0.38551	0.636	B	0.33454	0.164	T	0.45948	-0.9226	9	0.66056	D	0.02	.	6.0077	0.19554	0.5397:0.0:0.4603:0.0	.	662	Q9Y6K5	OAS3_HUMAN	M	662;661	ENSP00000228928:V662M	ENSP00000228928:V662M	V	+	1	0	OAS3	111884990	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.855000	0.04295	0.064000	0.16427	0.655000	0.94253	GTG	.		0.577	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			A	113400607	G	A	113400607	3	1	52	1	0	0	0	0	1	0	0	0	10840	1145	40	1	2018	1	OAS3	12	113400607	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2616545	113400607	20451288	434	11085											
MLEC	9761	hgsc.bcm.edu;bcgsc.ca	37	chr12	121132922	121132923	+	Frame_Shift_Del	DEL	TG	TG	-													actatgacaatcccaaggtcTgtgcactctacatcatggct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:121132922_121132923delTG	ENST00000228506.3	+	4	1044_1045	c.616_617delTG	c.(616-618)tgtfs	p.C206fs	MLEC_ENST00000412616.2_Intron|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	206					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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TCCCAAGGTCTGTGCACTCTAC	0.51																																					p.206_206del		.											.	MLEC-91	0			c.616_617del						.																																			SO:0001589	frameshift_variant	9761	exon4			AAGGTCTGTGCAC	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.616_617delTG	12.37:g.121132924_121132925delTG	ENSP00000228506:p.Cys206fs	Somatic	119	1		WXS	Illumina GAIIx	Phase_I	61	49	NM_014730	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000228506.3	37	CCDS9206.1																																																																																			.		0.51	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		-	121132923	TG	-	121132922	7	5	52	1	0	1	0	1	0	0	0	0	9651	1580	55	0	630	0	MLEC	12	121132922	Frame_Shift_Del	DEL	TG	TCGA-OR-A5LJ-01A-11D-A29I-10	7732315	121132922	12718973	435	11086											
P2RX7	5027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	121622497	121622497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacctggcgcttcggctcCcaggacatggctgactttgc	12	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:121622497C>A	ENST00000546057.1	+	13	1823	c.1680C>A	c.(1678-1680)tcC>tcA	p.S560S	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Silent_p.S271S|P2RX7_ENST00000328963.5_Silent_p.S390S|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000535250.1_Silent_p.S470S	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	560					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTTCGGCTCCCAGGACATGG	0.612																																					p.S560S		.											.	P2RX7-268	0			c.C1680A						.						14	12	13					12																	121622497		2194	4283	6477	SO:0001819	synonymous_variant	5027	exon13			CGGCTCCCAGGAC	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1680C>A	12.37:g.121622497C>A		Somatic	184	0		WXS	Illumina GAIIx	Phase_I	132	41	NM_002562	0	0	3	4	1	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	CCDS9213.1																																																																																			.		0.612	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		A	121622497	C	A	121622497	2	1	52	1	0	0	0	0	0	0	0	1	11384	610	22	3		3	P2RX7	12	121622497	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	489575	121622497	12229398	436	11087											
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123089580	123089580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttattgtcagtctctacGaacatcctagcatcaatcaa	4	11	5	0	rs542508586		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:123089580G>A	ENST00000333479.7	+	50	5509	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.E203K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1778					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAGTCTCTACGAACATCCTAG	0.408													G|||	1	0.000199681	0	0	5008	,	,		16438	0.001		0	False		,,,				2504	0				p.E1778K		.											.	KNTC1-543	0			c.G5332A						.						63	58	60					12																	123089580		1897	4119	6016	SO:0001583	missense	9735	exon50			CTCTACGAACATC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5332G>A	12.37:g.123089580G>A	ENSP00000328236:p.Glu1778Lys	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	95	50	NM_014708	0	0	1	4	3	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307917	0.95629	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.33438	1.41;1.41	5.71	5.71	0.89125	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.71581	2.175	0.58432	D	0.999995	D	0.76494	0.999	D	0.72075	0.976	T	0.56129	-0.8030	10	0.66056	D	0.02	-24.9476	16.1449	0.81559	0.0:0.1334:0.8666:0.0	.	1778	P50748	KNTC1_HUMAN	K	1778;203	ENSP00000328236:E1778K;ENSP00000443622:E203K	ENSP00000328236:E1778K	E	+	1	0	KNTC1	121655533	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.315000	0.78998	2.697000	0.92050	0.591000	0.81541	GAA	.		0.408	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123089580	G	A	123089580	3	1	52	1	0	0	0	0	1	0	0	0	8455	1059	37	1	5526	1	KNTC1	12	123089580	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1467083	123089580	10762315	437	11088											
ARL6IP4	23457	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	123466588	123466588	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggcagagcatcatccGcaaggtggtggaccctgaga	14	12	1	2	rs372275437		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:123466588G>A	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000543566.1_Missense_Mutation_p.R289H|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.R177H|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.R118H|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.R174H|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.R289H|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.R300H|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.R308H|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.R166H|ARL6IP4_ENST00000357866.4_Missense_Mutation_p.R129H			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGCATCATCCGCAAGGTGGTG	0.607																																					p.R308H	Ovarian(49;786 1333 9175 38236)	.											.	ARL6IP4-90	0			c.G923A						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	58	58	58		899,866,866,923	5.3	1	12		58	1,8599		0,1,4299	no	missense,missense,missense,missense	ARL6IP4	NM_001002251.1,NM_001002252.1,NM_016638.2,NM_018694.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	300/353,289/339,289/342,308/361	123466588	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	51329	exon4			TCATCCGCAAGGT	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466588G>A	Exception_encountered	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	114	12	NM_018694	0	1	356	404	47	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778369	0.90195	0.0	1.16E-4	ENSG00000182196	ENST00000544323;ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000412505;ENST00000439686;ENST00000456762;ENST00000357866	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	0.95;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.83223	2.63	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	0.997;0.993;0.997;0.998;0.998;0.996	D	0.84493	0.0612	10	0.87932	D	0	.	18.9825	0.92760	0.0:0.0:1.0:0.0	.	174;252;289;289;308;300	B3V0L1;Q66PJ3-5;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;.;AR6P4_HUMAN;.	H	241;289;308;297;289;177;166;300;174;118;177;167;129	ENSP00000445309:R241H;ENSP00000442718:R289H;ENSP00000313422:R308H;ENSP00000442200:R297H;ENSP00000376230:R289H;ENSP00000441406:R177H;ENSP00000406036:R166H;ENSP00000414847:R300H;ENSP00000396723:R174H;ENSP00000413132:R118H;ENSP00000396365:R177H;ENSP00000391598:R167H;ENSP00000350532:R129H	ENSP00000313422:R308H	R	+	2	0	ARL6IP4	122032541	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.385000	0.97223	2.475000	0.83589	0.561000	0.74099	CGC	.		0.607	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		A	123466588	G	A	123466588	1	1	52	0	1	0	0	0	0	0	0	0	944	1087	38	1		1	ARL6IP4	12	123466588	5'Flank	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	377008	123466588	10385307	438	11089											
RIMBP2	23504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	130912861	130912861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctctctgtgtggtactCgtctccatggcaacagtgcg	12	12	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:130912861C>T	ENST00000261655.4	-	12	2387	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	742					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTGTGGTACTCGTCTCCATGG	0.592																																					p.E742K		.											.	RIMBP2-142	0			c.G2224A						.						70	63	65					12																	130912861		2203	4300	6503	SO:0001583	missense	23504	exon12			GGTACTCGTCTCC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2224G>A	12.37:g.130912861C>T	ENSP00000261655:p.Glu742Lys	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	74	68	NM_015347	0	0	0	5	5	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286497	0.80803	.	.	ENSG00000060709	ENST00000261655	T	0.20200	2.09	4.77	4.77	0.60923	.	0.442481	0.23740	N	0.045030	T	0.18257	0.0438	L	0.50333	1.59	0.80722	D	1	P	0.40681	0.727	B	0.28916	0.096	T	0.07635	-1.0762	10	0.23302	T	0.38	-7.2135	17.8061	0.88601	0.0:1.0:0.0:0.0	.	742	O15034	RIMB2_HUMAN	K	742	ENSP00000261655:E742K	ENSP00000261655:E742K	E	-	1	0	RIMBP2	129478814	1.000000	0.71417	0.858000	0.33744	0.860000	0.49131	7.791000	0.85805	2.198000	0.70561	0.561000	0.74099	GAG	.		0.592	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130912861	C	T	130912861	3	4	52	1	0	0	0	0	1	0	0	0	13408	893	31	1	966	1	RIMBP2	12	130912861	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7446273	130912861	2939034	439	11090											
EP400	57634	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	132504663	132504663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttccccagcactcacccGccccggacggcagcccccac	8	23	1	0	rs150248915	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr12:132504663G>A	ENST00000333577.4	+	23	4564	c.4455G>A	c.(4453-4455)ccG>ccA	p.P1485P	EP400_ENST00000330386.6_Silent_p.P1449P|EP400_ENST00000389562.2_Silent_p.P1448P|EP400_ENST00000389561.2_Silent_p.P1449P|EP400_ENST00000332482.4_Silent_p.P1412P			Q96L91	EP400_HUMAN	E1A binding protein p400	1485					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)		GCACTCACCCGCCCCGGACGG	0.647																																					p.P1449P		.											.	EP400-520	0			c.G4347A						.	G		3,4403	6.2+/-15.9	0,3,2200	49	50	50		4347	-10.4	0.5	12	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EP400	NM_015409.4		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		1449/3124	132504663	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	57634	exon22			TCACCCGCCCCGG	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.4455G>A	12.37:g.132504663G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	80	62	NM_015409	0	0	0	11	11	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				G|0.999;A|0.001		0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132504663	G	A	132504663	2	1	52	1	0	0	0	0	0	0	0	1	5165	1074	38	1		1	EP400	12	132504663	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1591802	132504663	1347232	440	11091											
ATP12A	479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	25262636	25262636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgggattcagtactccagCgacaagtctgcatccctgaa	9	11	2	1	rs369759214		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:25262636C>T	ENST00000381946.3	+	4	575	c.408C>T	c.(406-408)agC>agT	p.S136S	ATP12A_ENST00000218548.6_Silent_p.S136S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	136					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)		AGTACTCCAGCGACAAGTCTG	0.577																																					p.S136S	Pancreas(156;1582 1935 18898 22665 26498)	.											.	ATP12A-137	0			c.C408T						.	C	,	0,4406		0,0,2203	178	177	177		408,408	-5.7	0	13		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP12A	NM_001185085.1,NM_001676.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	136/1046,136/1040	25262636	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	479	exon4			CTCCAGCGACAAG	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.408C>T	13.37:g.25262636C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	37	32	NM_001185085	0	0	0	0	0	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																			.		0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25262636	C	T	25262636	2	4	52	1	0	0	0	0	0	0	0	1	1123	767	27	1		1	ATP12A	13	25262636	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		25262636	89907242	441	11092											
PABPC3	5042	ucsc.edu	37	chr13	25671755	25671755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccacgagtcatgtcaacGcagcgtgttgctaacacatc	9	12	2	0	rs116223079	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:25671755G>A	ENST00000281589.3	+	1	1456	c.1419G>A	c.(1417-1419)acG>acA	p.T473T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCATGTCAACGCAGCGTGTTG	0.537																																					p.T473T		.											.	PABPC3-72	0			c.G1419A						.						96	87	90					13																	25671755		2203	4300	6503	SO:0001819	synonymous_variant	5042	exon1			GTCAACGCAGCGT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1419G>A	13.37:g.25671755G>A		Somatic	154	3		WXS	Illumina GAIIx	Phase_I	99	18	NM_030979	4	0	1	2358	2353	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																			G|0.977;A|0.023		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671755	G	A	25671755	2	1	52	1	0	0	0	0	0	0	0	1	11404	1074	38	1		1	PABPC3	13	25671755	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	409119	25671755	89498123	442	11093											
PABPC3	5042	ucsc.edu	37	chr13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacacatcaacacagacaGtgggtccacgtcctgcagct	8	14	1	1	rs113301206	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646				p.V484M		.											.	PABPC3-72	0			c.G1450A						.						64	58	60					13																	25671786		2203	4300	6503	SO:0001583	missense	5042	exon1			CAGACAGTGGGTC	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met	Somatic	142	4		WXS	Illumina GAIIx	Phase_I	95	17	NM_030979	0	0	1	1207	1206	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG	G|0.994;A|0.006		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671786	G	A	25671786	3	1	52	1	0	0	0	0	1	0	0	0	11404	1029	36	3	1452	3	PABPC3	13	25671786	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	31	25671786	89498092	443	11094											
FAM123A	219287	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	25744555	25744555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccggcttgcctggcccGgggacatgcttgtcacagct	14	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:25744555G>A	ENST00000515384.1	-	1	1870	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.P282P|AMER2_ENST00000357816.2_Silent_p.P282P			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	401					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TGCCTGGCCCGGGGACATGCT	0.577																																					p.P401P		.											.	.	0			c.C1203T						.						31	36	34					13																	25744555		2203	4300	6503	SO:0001819	synonymous_variant	219287	exon1			TGGCCCGGGGACA	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1203C>T	13.37:g.25744555G>A		Somatic	118	1		WXS	Illumina GAIIx	Phase_I	91	73	NM_152704	0	0	0	0	0	Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	CCDS53859.1																																																																																			.		0.577	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		A	25744555	G	A	25744555	2	1	52	1	0	0	0	0	0	0	0	1	5441	1103	39	1		1	FAM123A	13	25744555	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	72769	25744555	89425323	444	11095											
RASL11A	387496	broad.mit.edu;bcgsc.ca	37	chr13	27847563	27847563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgctctcccaacatgCaggacctgaagagacgcttc	10	16	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:27847563C>T	ENST00000241463.4	+	4	1279	c.661C>T	c.(661-663)Cag>Tag	p.Q221*		NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCCCAACATGCAGGACCTGAA	0.532																																					p.Q221X		.											.	RASL11A-522	0			c.C661T						.						54	52	53					13																	27847563		2203	4300	6503	SO:0001587	stop_gained	387496	exon4			AACATGCAGGACC	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.661C>T	13.37:g.27847563C>T	ENSP00000241463:p.Gln221*	Somatic	245	0		WXS	Illumina GAIIx	Phase_I	181	7	NM_206827	0	0	12	12	0		Nonsense_Mutation	SNP	ENST00000241463.4	37	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	C	42	9.166344	0.99087	.	.	ENSG00000122035	ENST00000241463	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.805	0.92034	0.0:1.0:0.0:0.0	.	.	.	.	X	221	.	ENSP00000241463:Q221X	Q	+	1	0	RASL11A	26745563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.523000	0.85059	0.591000	0.81541	CAG	.		0.532	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		T	27847563	C	T	27847563	4	4	52	1	0	0	0	0	0	1	0	0	13126	711	25	3	675	3	RASL11A	13	27847563	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2103008	27847563	87322315	445	11096											
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	39264775	39264775	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgaagatgtcgactccctGaatgatgacatcttgtgcac	10	10	1	5			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:39264775G>T	ENST00000280481.7	+	1	3510	c.3294G>T	c.(3292-3294)ctG>ctT	p.L1098L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1098					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)		TCGACTCCCTGAATGATGACA	0.408																																					p.L1098L		.											.	FREM2-100	0			c.G3294T						.						89	83	85					13																	39264775		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			CTCCCTGAATGAT	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.3294G>T	13.37:g.39264775G>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	22	6	NM_207361	0	0	0	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39264775	G	T	39264775	2	4	52	1	0	0	0	0	0	0	0	1	6069	1277	45	3		3	FREM2	13	39264775	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	11417212	39264775	75905103	446	11097											
LHFP	10186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	39952603	39952603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtagccacaagtctgcCggacttcctcactgtcccag	9	14	2	0	rs374053260		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:39952603C>T	ENST00000379589.3	-	3	908	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	149						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.R149Q(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		ACAAGTCTGCCGGACTTCCTC	0.488			T	HMGA2	lipoma																																p.R149Q		.		Dom	yes		13	13q12	10186	lipoma HMGIC fusion partner		M	.	LHFP-683	1	Substitution - Missense(1)	endometrium(1)	c.G446A						.	C	GLN/ARG	0,4406		0,0,2203	79	72	74		446	4.1	1	13		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	LHFP	NM_005780.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	149/201	39952603	1,13005	2203	4300	6503	SO:0001583	missense	10186	exon3			GTCTGCCGGACTT	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.446G>A	13.37:g.39952603C>T	ENSP00000368908:p.Arg149Gln	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	61	46	NM_005780	0	0	8	12	4	B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077952	0.55753	0.0	1.16E-4	ENSG00000183722	ENST00000379589	T	0.73152	-0.72	5.76	4.05	0.47172	.	0.095414	0.44483	N	0.000449	T	0.51568	0.1682	N	0.20685	0.6	0.36692	D	0.879636	B	0.27117	0.168	B	0.20184	0.028	T	0.50398	-0.8833	9	.	.	.	.	10.8421	0.46722	0.0:0.8458:0.0:0.1542	.	149	Q9Y693	LHFP_HUMAN	Q	149	ENSP00000368908:R149Q	.	R	-	2	0	LHFP	38850603	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.036000	0.41165	0.785000	0.33685	0.555000	0.69702	CGG	.		0.488	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		T	39952603	C	T	39952603	3	4	52	1	0	0	0	0	1	0	0	0	8792	652	23	1	164	1	LHFP	13	39952603	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	687828	39952603	75217275	447	11098											
EBPL	84650	broad.mit.edu	37	chr13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaactggtttctttcTgatgcattttcttgagttct	7	8	5	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					p.Q196P	NSCLC(39;857 1083 36109 42364 51411)	.											.	EBPL-90	2	Substitution - Missense(2)	endometrium(2)	c.A587C						.						73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650	exon4			TCTTTCTGATGCA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	105	3	NM_032565	0	0	84	84	0	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG	.		0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		G	50235138	T	G	50235138	3	3	52	1	0	0	0	0	1	0	0	0	4901	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	10282535	50235138	64934740	448	11099											
PCDH8	5100	hgsc.bcm.edu	37	chr13	53420056	53420056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaccgcaggcggaggcGcgtccgccgcggggctgcca	19	16	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:53420056G>A	ENST00000377942.3	-	1	2719	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	PCDH8_ENST00000338862.4_Intron	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	839					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCGGAGGCGCGTCCGCCGC	0.751																																					p.A839V	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.C2516T						.						2	3	3					13																	53420056		1569	3212	4781	SO:0001583	missense	5100	exon1			GGAGGCGCGTCCG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2516C>T	13.37:g.53420056G>A	ENSP00000367177:p.Ala839Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222426	0.39300	.	.	ENSG00000136099	ENST00000377942;ENST00000418407;ENST00000448969	D	0.94576	-3.46	5.37	4.48	0.54585	.	0.396402	0.18573	N	0.137274	D	0.86506	0.5949	N	0.08118	0	0.80722	D	1	B	0.20550	0.046	B	0.08055	0.003	T	0.82057	-0.0646	10	0.13470	T	0.59	.	16.0595	0.80830	0.0:0.1455:0.8545:0.0	.	839	O95206	PCDH8_HUMAN	V	839;365;682	ENSP00000367177:A839V	ENSP00000367177:A839V	A	-	2	0	PCDH8	52318057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.878000	0.75567	2.497000	0.84241	0.651000	0.88453	GCG	.		0.751	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		A	53420056	G	A	53420056	3	1	52	1	0	0	0	0	1	0	0	0	11556	1087	38	1	708	1	PCDH8	13	53420056	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3184918	53420056	61749822	449	11100											
SCEL	8796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr13	78211275	78211275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaatcacccaaggatggatAtcaggagaatatctctggaa	9	7	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:78211275A>T	ENST00000349847.3	+	30	1868	c.1784A>T	c.(1783-1785)tAt>tTt	p.Y595F	SCEL_ENST00000377246.3_Missense_Mutation_p.Y575F|SCEL_ENST00000535157.1_Missense_Mutation_p.Y553F	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	595					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAGGATGGATATCAGGAGAAT	0.338																																					p.Y595F		.											.	SCEL-95	0			c.A1784T						.						100	94	96					13																	78211275		2203	4298	6501	SO:0001583	missense	8796	exon30			ATGGATATCAGGA	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1784A>T	13.37:g.78211275A>T	ENSP00000302579:p.Tyr595Phe	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	42	7	NM_144777	0	0	0	0	0	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048516	0.75846	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.83914	-1.78;-1.78;-1.78	5.93	4.69	0.59074	.	0.127580	0.36268	N	0.002694	D	0.84969	0.5590	M	0.70595	2.14	0.30128	N	0.805088	P;P;P	0.47302	0.867;0.893;0.893	B;P;P	0.49853	0.359;0.624;0.461	D	0.83810	0.0241	10	0.52906	T	0.07	-5.4464	11.0315	0.47776	0.8444:0.1556:0.0:0.0	.	553;575;595	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	F	553;575;595	ENSP00000437895:Y553F;ENSP00000366454:Y575F;ENSP00000302579:Y595F	ENSP00000302579:Y595F	Y	+	2	0	SCEL	77109276	0.971000	0.33674	0.956000	0.39512	0.810000	0.45777	2.290000	0.43531	2.263000	0.75096	0.533000	0.62120	TAT	.		0.338	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		T	78211275	A	T	78211275	3	4	52	1	0	0	0	0	1	0	0	0	13933	449	16	5	1898	5	SCEL	13	78211275	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	24791219	78211275	36958603	450	11101											
ABCC4	10257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	95830011	95830011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactgcactgagaggatcGtccaggagatagatgtcagc	12	9	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:95830011G>A	ENST00000376887.4	-	13	1791	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.D559D|ABCC4_ENST00000431522.1_Silent_p.D559D|ABCC4_ENST00000536256.1_Silent_p.D484D	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	559	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGAGAGGATCGTCCAGGAGAT	0.438																																					p.D559D		.											.	ABCC4-515	0			c.C1677T						.						144	123	131					13																	95830011		2203	4300	6503	SO:0001819	synonymous_variant	10257	exon13			AGGATCGTCCAGG	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.1677C>T	13.37:g.95830011G>A		Somatic	172	0		WXS	Illumina GAIIx	Phase_I	127	35	NM_005845	0	0	0	0	0	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																			.		0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95830011	G	A	95830011	2	1	52	1	0	0	0	0	0	0	0	1	55	1136	40	1		1	ABCC4	13	95830011	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	17618736	95830011	19339867	451	11102											
COL4A1	1282	hgsc.bcm.edu;broad.mit.edu	37	chr13	110804812	110804812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcaggagccgggggaCgccagggcttggccagagcc	18	13	0	1	rs146638269	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr13:110804812C>T	ENST00000375820.4	-	51	4918	c.4797G>A	c.(4795-4797)gcG>gcA	p.A1599A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1599	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCGGGGGACGCCAGGGCTT	0.592																																					p.A1599A		.											.	COL4A1-654	0			c.G4797A						.	C		1,4405	2.1+/-5.4	0,1,2202	45	39	41		4797	-11	0	13	dbSNP_134	41	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	COL4A1	NM_001845.4		0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538		1599/1670	110804812	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon51			GGGGGACGCCAGG	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.4797G>A	13.37:g.110804812C>T		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	89	4	NM_001845	0	0	60	60	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			C|1.000;T|0.000		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110804812	C	T	110804812	2	4	52	1	0	0	0	0	0	0	0	1	3696	523	19	1		1	COL4A1	13	110804812	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14974801	110804812	4365066	452	11103											
OR4Q3	441669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	20216029	20216029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctttggttggttcttgCctgctggtgtgggggtttta	15	6	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:20216029C>T	ENST00000331723.1	+	1	443	c.443C>T	c.(442-444)gCc>gTc	p.A148V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	148						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)		TTGGTTCTTGCCTGCTGGTGT	0.493																																					p.A148V		.											.	OR4Q3-71	0			c.C443T						.						92	95	94					14																	20216029		2203	4300	6503	SO:0001583	missense	441669	exon1			TTCTTGCCTGCTG	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.443C>T	14.37:g.20216029C>T	ENSP00000330049:p.Ala148Val	Somatic	508	0		WXS	Illumina GAIIx	Phase_I	342	26	NM_172194	0	0	0	0	0	Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.226	0.803588	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.36878	1.23	4.09	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.395767	0.18188	U	0.148904	T	0.24353	0.0590	L	0.37897	1.145	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21484	-1.0244	10	0.08837	T	0.75	.	11.6971	0.51551	0.0:0.6456:0.3543:0.0	.	148	Q8NH05	OR4Q3_HUMAN	V	148	ENSP00000330049:A148V	ENSP00000330049:A148V	A	+	2	0	OR4Q3	19285869	0.000000	0.05858	0.976000	0.42696	0.716000	0.41182	0.053000	0.14184	0.883000	0.36040	0.406000	0.27484	GCC	.		0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			T	20216029	C	T	20216029	3	4	52	1	0	0	0	0	1	0	0	0	11120	739	26	3	445	3	OR4Q3	14	20216029	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		20216029	87133511	453	11104											
OR4K2	390431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaagtggcataattgCgttgtcctgttttattgttt	8	7	1	0	rs371172454		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A207V(1)|p.A207E(1)		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)		GGCATAATTGCGTTGTCCTGT	0.398																																					p.A207V		.											.	OR4K2-72	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C620T						.	C	VAL/ALA	0,4406		0,0,2203	312	312	312		620	4.1	0.9	14		312	1,8599		0,1,4299	no	missense	OR4K2	NM_001005501.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/315	20345046	1,13005	2203	4300	6503	SO:0001583	missense	390431	exon1			TAATTGCGTTGTC		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.620C>T	14.37:g.20345046C>T	ENSP00000298642:p.Ala207Val	Somatic	254	0		WXS	Illumina GAIIx	Phase_I	206	57	NM_001005501	0	0	0	0	0	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197465	0.38806	0.0	1.16E-4	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.0	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.38374	0.1038	N	0.25060	0.705	0.28288	N	0.923682	D	0.64830	0.994	P	0.62491	0.903	T	0.15435	-1.0437	10	0.59425	D	0.04	.	7.7058	0.28648	0.0:0.8129:0.0:0.1871	.	207	Q8NGD2	OR4K2_HUMAN	V	207	ENSP00000298642:A207V	ENSP00000298642:A207V	A	+	2	0	OR4K2	19414886	0.000000	0.05858	0.866000	0.34008	0.186000	0.23388	-0.259000	0.08721	1.331000	0.45412	0.467000	0.42956	GCG	.		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			T	20345046	C	T	20345046	3	4	52	1	0	0	0	0	1	0	0	0	11111	768	27	1	622	1	OR4K2	14	20345046	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	129017	20345046	87004494	454	11105											
CMA1	1215	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacaatgagcagccGtcagcacaaagttccgtctt	8	13	2	1	rs13306251	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	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)		ATGAGCAGCCGTCAGCACAAA	0.488													G|||	5	0.000998403	0	0	5008	,	,		19023	0.001		0	False		,,,				2504	0.0041				p.T63M		.											.	CMA1-90	0			c.C188T						.	G	MET/THR	0,4406		0,0,2203	132	126	128		188	5	1	14	dbSNP_121	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMA1	NM_001836.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/248	24976583	1,13005	2203	4300	6503	SO:0001583	missense	1215	exon2			GCAGCCGTCAGCA		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.188C>T	14.37:g.24976583G>A	ENSP00000250378:p.Thr63Met	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	101	75	NM_001836	0	0	0	0	0	B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	CCDS9630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.63	3.666101	0.67700	0.0	1.16E-4	ENSG00000092009	ENST00000250378	D	0.81908	-1.55	5.01	5.01	0.66863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000056	D	0.93239	0.7846	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	D	0.94940	0.8090	10	0.72032	D	0.01	.	14.0034	0.64446	0.0:0.0:1.0:0.0	rs13306251;rs13306251	63	P23946	CMA1_HUMAN	M	63	ENSP00000250378:T63M	ENSP00000250378:T63M	T	-	2	0	CMA1	24046423	0.998000	0.40836	0.955000	0.39395	0.773000	0.43773	3.381000	0.52455	2.766000	0.95052	0.655000	0.94253	ACG	G|0.163;T|0.000		0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			A	24976583	G	A	24976583	3	1	52	1	0	0	0	0	1	0	0	0	3581	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4631537	24976583	82372957	455	11106											
C14orf106	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	45675328	45675328	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagacaataccaccattactTttatgatatttttgcatacg	4	9	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:45675328T>A	ENST00000310806.4	-	15	3656	c.3198A>T	c.(3196-3198)aaA>aaT	p.K1066N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1066					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CACCATTACTTTTATGATATT	0.254																																					p.K1066N		.											.	MIS18BP1-90	0			c.A3198T						.						64	63	63					14																	45675328		2199	4294	6493	SO:0001583	missense	55320	exon15			ATTACTTTTATGA	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3198A>T	14.37:g.45675328T>A	ENSP00000309790:p.Lys1066Asn	Somatic	242	1		WXS	Illumina GAIIx	Phase_I	182	145	NM_018353	0	0	1	17	16	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752963	0.49362	.	.	ENSG00000129534	ENST00000310806	T	0.26373	1.74	5.71	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	M	0.73598	2.24	0.41278	D	0.98689	P	0.40144	0.704	B	0.31442	0.13	T	0.06445	-1.0826	10	0.51188	T	0.08	-29.6423	8.5478	0.33433	0.0:0.1571:0.0:0.8429	.	1066	Q6P0N0	M18BP_HUMAN	N	1066	ENSP00000309790:K1066N	ENSP00000309790:K1066N	K	-	3	2	MIS18BP1	44745078	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	0.984000	0.29565	0.994000	0.38892	0.477000	0.44152	AAA	.		0.254	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			A	45675328	T	A	45675328	3	1	52	1	0	0	0	0	1	0	0	0	1743	1838	64	5	212	5	C14orf106	14	45675328	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	20698745	45675328	61674212	456	11107											
C14orf104	55172	hgsc.bcm.edu	37	chr14	50100683	50100683	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtggcctccgtcctcCgcgcgactcctcgcgggtcc	12	18	0	0	rs2985686	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:50100683C>G	ENST00000298292.8	-	1	1265	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A	DNAAF2_ENST00000406043.3_Silent_p.A395A	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	395					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCGTCCTCCGCGCGACTCC	0.781													G|||	2800	0.559105	0.6702	0.6715	5008	,	,		11594	0.1736		0.7604	False		,,,				2504	0.5194				p.A395A		.											.	.	0			c.G1185C						.						1	1	1					14																	50100683		917	2082	2999	SO:0001819	synonymous_variant	55172	exon1			GTCCTCCGCGCGA	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1185G>C	14.37:g.50100683C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_018139	0	0	0	2	2	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	CCDS9691.2																																																																																			C|0.569;G|0.431		0.781	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			G	50100683	C	G	50100683	2	3	52	1	0	0	0	0	0	0	0	1	1741	639	23	2		2	C14orf104	14	50100683	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4425355	50100683	57248857	457	11108											
C14orf43	91748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	74193665	74193665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggaaccgggagcccaCgttgatccgtctagaggagt	14	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:74193665C>T	ENST00000286523.5	-	6	2955	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V725M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	725	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CGGGAGCCCACGTTGATCCGT	0.602																																					p.V725M		.											.	.	0			c.G2173A						.						48	43	45					14																	74193665		2203	4300	6503	SO:0001583	missense	91748	exon6			AGCCCACGTTGAT	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.2173G>A	14.37:g.74193665C>T	ENSP00000286523:p.Val725Met	Somatic	283	0		WXS	Illumina GAIIx	Phase_I	137	40	NM_194278	0	0	2	3	1	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246437	0.80024	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.09	5.09	0.68999	ELM2 domain (2);	0.196194	0.35262	N	0.003322	T	0.69015	0.3064	L	0.50333	1.59	0.47153	D	0.999334	D;D	0.89917	1.0;1.0	D;D	0.75484	0.985;0.986	T	0.70850	-0.4760	10	0.87932	D	0	-19.9807	12.0619	0.53566	0.0:0.9218:0.0:0.0782	.	725;725	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	725	ENSP00000377634:V725M;ENSP00000286523:V725M;ENSP00000407767:V725M;ENSP00000402380:V725M	ENSP00000286523:V725M	V	-	1	0	C14orf43	73263418	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.518000	0.60510	2.646000	0.89796	0.655000	0.94253	GTG	.		0.602	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74193665	C	T	74193665	3	4	52	1	0	0	0	0	1	0	0	0	1779	536	19	1	992	1	C14orf43	14	74193665	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	24092982	74193665	33155875	458	11109											
VSX2	338917	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	74711911	74711911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagctggagaaggcaTtcaacgaagcccactaccca	11	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:74711911T>G	ENST00000261980.2	+	3	589	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	167					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGAGAAGGCATTCAACGAAGC	0.557																																					p.F167V		.											.	VSX2-69	0			c.T499G						.						76	64	68					14																	74711911		2203	4300	6503	SO:0001583	missense	338917	exon3			AAGGCATTCAACG	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.499T>G	14.37:g.74711911T>G	ENSP00000261980:p.Phe167Val	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	112	9	NM_182894	0	0	0	0	0	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707993	0.89018	.	.	ENSG00000119614	ENST00000261980	D	0.99405	-5.84	4.52	4.52	0.55395	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99834	4.825	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96527	0.9390	10	0.87932	D	0	.	14.2832	0.66226	0.0:0.0:0.0:1.0	.	167	P58304	VSX2_HUMAN	V	167	ENSP00000261980:F167V	ENSP00000261980:F167V	F	+	1	0	VSX2	73781664	1.000000	0.71417	0.953000	0.39169	0.912000	0.54170	7.581000	0.82535	2.023000	0.59567	0.533000	0.62120	TTC	.		0.557	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		G	74711911	T	G	74711911	3	3	52	1	0	0	0	0	1	0	0	0	17281	1493	52	5	509	5	VSX2	14	74711911	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	518246	74711911	32637629	459	11110											
TDP1	55775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	90450919	90450919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccacaaatctggagagtCgccaacacattttaaagctg	7	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:90450919C>T	ENST00000335725.4	+	9	1194	c.944C>T	c.(943-945)tCg>tTg	p.S315L	TDP1_ENST00000393452.3_Missense_Mutation_p.S315L|TDP1_ENST00000393454.2_Missense_Mutation_p.S315L|TDP1_ENST00000555880.1_Missense_Mutation_p.S315L|TDP1_ENST00000357382.3_Missense_Mutation_p.S76L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	315					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.S315L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCTGGAGAGTCGCCAACACAT	0.418								Repair of DNA-protein crosslinks																													p.S315L		.											.	TDP1-92	1	Substitution - Missense(1)	prostate(1)	c.C944T						.						168	161	163					14																	90450919		2203	4300	6503	SO:0001583	missense	55775	exon9			GAGAGTCGCCAAC	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.944C>T	14.37:g.90450919C>T	ENSP00000337353:p.Ser315Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	37	30	NM_018319	0	0	0	1	1	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874318	0.51695	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.47	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.92169	3.28	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	T	0.82176	-0.0587	10	0.62326	D	0.03	-4.6674	15.2178	0.73285	0.142:0.858:0.0:0.0	.	315;315;76;315	G3V2F4;E7EPD8;Q86TV8;Q9NUW8	.;.;.;TYDP1_HUMAN	L	315;315;216;315;76;315	ENSP00000377098:S315L;ENSP00000377099:S315L;ENSP00000450708:S216L;ENSP00000337353:S315L;ENSP00000349952:S76L;ENSP00000450628:S315L	ENSP00000337353:S315L	S	+	2	0	TDP1	89520672	1.000000	0.71417	0.126000	0.21872	0.004000	0.04260	7.281000	0.78621	1.293000	0.44690	-0.181000	0.13052	TCG	.		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		T	90450919	C	T	90450919	3	4	52	1	0	0	0	0	1	0	0	0	15775	893	31	1	970	1	TDP1	14	90450919	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	15739008	90450919	16898621	460	11111											
DYNC1H1	1778	bcgsc.ca	37	chr14	102508056	102508056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccgctcgacctgacccaCattgtgggcacagaggtaat	11	13	0	2	rs10129889	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:102508056C>A	ENST00000360184.4	+	65	12251	c.12087C>A	c.(12085-12087)caC>caA	p.H4029Q	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4029	AAA 6. {ECO:0000250}.		H -> Q (in dbSNP:rs10129889). {ECO:0000269|PubMed:9205841, ECO:0000269|Ref.4}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCTGACCCACATTGTGGGCA	0.602													C|||	496	0.0990415	0.2784	0.0519	5008	,	,		19868	0.002		0.0696	False		,,,				2504	0.0204				p.H4029Q		.											.	DYNC1H1-98	0			c.C12087A						.	C	GLN/HIS	1199,3207	418.7+/-338.4	164,871,1168	59	61	60		12087	4.6	1	14	dbSNP_119	60	534,8066	148.8+/-204.0	20,494,3786	yes	missense	DYNC1H1	NM_001376.4	24	184,1365,4954	AA,AC,CC		6.2093,27.2129,13.3246	benign	4029/4647	102508056	1733,11273	2203	4300	6503	SO:0001583	missense	1778	exon65			GACCCACATTGTG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12087C>A	14.37:g.102508056C>A	ENSP00000348965:p.His4029Gln	Somatic	143	1		WXS	Illumina GAIIx	Phase_I	84	5	NM_001376	0	0	85	85	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	203	0.09294871794871795	138	0.2804878048780488	20	0.055248618784530384	0	0.0	45	0.059366754617414245	C	7.360	0.624576	0.14193	0.272129	0.062093	ENSG00000197102	ENST00000360184	T	0.07908	3.15	5.61	4.59	0.56863	Dynein heavy chain (1);	0.094690	0.64402	D	0.000001	T	0.00012	0.0000	N	0.03154	-0.405	0.22112	P	0.999354976	B	0.06786	0.001	B	0.04013	0.001	T	0.48570	-0.9024	9	0.18710	T	0.47	.	8.1177	0.30953	0.0:0.7299:0.0:0.2701	rs10129889;rs17292699;rs17292706;rs17541554;rs57501843;rs10129889	4029	Q14204	DYHC1_HUMAN	Q	4029	ENSP00000348965:H4029Q	ENSP00000348965:H4029Q	H	+	3	2	DYNC1H1	101577809	0.995000	0.38212	0.984000	0.44739	0.984000	0.73092	0.450000	0.21762	1.256000	0.44068	0.655000	0.94253	CAC	C|0.882;A|0.118		0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102508056	C	A	102508056	3	1	52	1	0	0	0	0	1	0	0	0	4855	477	17	3	12345	3	DYNC1H1	14	102508056	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	12057137	102508056	4841484	461	11112											
TDRD9	122402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	104481118	104481118	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttcaacatgcatgtTgattctcggcgacctgtcat	8	11	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:104481118T>C	ENST00000409874.4	+	21	2211	c.2163T>C	c.(2161-2163)gtT>gtC	p.V721V	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Silent_p.V721V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	721					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)				ACATGCATGTTGATTCTCGGC	0.368																																					p.V721V		.											.	TDRD9-70	0			c.T2163C						.						152	151	151					14																	104481118		2203	4300	6503	SO:0001819	synonymous_variant	122402	exon21			GCATGTTGATTCT	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.2163T>C	14.37:g.104481118T>C		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	48	39	NM_153046	0	0	0	0	0	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	T	6.733	0.504059	0.12822	.	.	ENSG00000156414	ENST00000557332	.	.	.	4.94	-3.17	0.05202	.	.	.	.	.	.	.	.	.	.	.	0.38694	D	0.95282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8696	0.70448	0.0:0.0655:0.7271:0.2074	.	.	.	.	R	448	.	.	X	+	1	0	TDRD9	103550871	0.417000	0.25432	0.007000	0.13788	0.841000	0.47740	0.091000	0.15046	-0.685000	0.05177	-0.461000	0.05368	TGA	.		0.368	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		C	104481118	T	C	104481118	2	2	52	1	0	0	0	0	0	0	0	1	15783	1799	63	4		4	TDRD9	14	104481118	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1973062	104481118	2868422	462	11113											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015656	0	0	0	10	10	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	52	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	162981	104644099	2705441	463	11114											
AHNAK2	113146	ucsc.edu;bcgsc.ca	37	chr14	105409902	105409902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacttgctgtctttggcCgtcatgtccttgtcggccag	11	11	2	1	rs371817706		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr14:105409902C>T	ENST00000333244.5	-	7	12005	c.11886G>A	c.(11884-11886)acG>acA	p.T3962T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3962						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T3962T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTTGGCCGTCATGTCCT	0.622																																					p.T3962T		.											.	AHNAK2-47	1	Substitution - coding silent(1)	lung(1)	c.G11886A						.	A		0,4016		0,0,2008	223	217	219		11886	-4.2	0	14		219	2,8314		0,2,4156	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6164	TT,TC,CC		0.0241,0.0,0.0162		3962/5796	105409902	2,12330	2008	4158	6166	SO:0001819	synonymous_variant	113146	exon7			TTTGGCCGTCATG	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.11886G>A	14.37:g.105409902C>T		Somatic	355	3		WXS	Illumina GAIIx	Phase_I	164	123	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																			.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105409902	C	T	105409902	2	4	52	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105409902	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	765803	105409902	1939638	464	11115											
OR4M2	390538	bcgsc.ca	37	chr15	22369046	22369046	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggggcttcattcattctatCatacaggtggctctcattgt	10	9	5	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:22369046C>T	ENST00000332663.2	+	1	569	c.471C>T	c.(469-471)atC>atT	p.I157I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCATTCTATCATACAGGTGG	0.512																																					p.I157I		.											.	OR4M2-69	0			c.C471T						.						364	303	324					15																	22369046		2203	4300	6503	SO:0001819	synonymous_variant	390538	exon1			TTCTATCATACAG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.471C>T	15.37:g.22369046C>T		Somatic	1141	2		WXS	Illumina GAIIx	Phase_I	733	29	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	CCDS32172.1																																																																																			.		0.512	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			T	22369046	C	T	22369046	2	4	52	1	0	0	0	0	0	0	0	1	11115	816	29	3		3	OR4M2	15	22369046	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		22369046	80162346	465	11116											
MTMR10	54893	broad.mit.edu	37	chr15	31269078	31269078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagttactgcatatcaGctttccccacaaatcgtact	5	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:31269078G>A	ENST00000435680.1	-	3	299	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	MTMR10_ENST00000563714.1_5'UTR|MTMR10_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Silent_p.L68L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	68							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTGCATATCAGCTTTCCCCAC	0.343																																					p.L68L		.											.	MTMR10-91	0			c.C202T						.						121	122	121					15																	31269078		1869	4099	5968	SO:0001819	synonymous_variant	54893	exon3			ATATCAGCTTTCC	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.202C>T	15.37:g.31269078G>A		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	102	3	NM_017762	0	0	0	0	0	Q6P4Q6	Silent	SNP	ENST00000435680.1	37	CCDS45204.1																																																																																			.		0.343	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		A	31269078	G	A	31269078	2	1	52	1	0	0	0	0	0	0	0	1	9977	962	34	3		3	MTMR10	15	31269078	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	8900032	31269078	71262314	466	11117											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	33358991	33358991	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctcttctctcctgggCgactcagggtctgctccctt	8	17	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:33358991C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Silent_p.S365S|FMN1_ENST00000558197.1_Silent_p.S365S|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCTCCTGGGCGACTCAGGGT	0.582																																					p.S365S		.											.	FMN1-23	0			c.G1095A						.						78	80	79					15																	33358991		2051	4201	6252	SO:0001627	intron_variant	342184	exon1			CCTGGGCGACTCA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1716G>A	15.37:g.33358991C>T		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	72	10	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																				.		0.582	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33358991	C	T	33358991	1	4	52	0	1	0	0	0	0	0	0	0	5971	755	27	1		1	FMN1	15	33358991	Intron	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2089913	33358991	69172401	467	11118											
ZFYVE19	84936	broad.mit.edu;bcgsc.ca	37	chr15	41106184	41106185	+	Frame_Shift_Ins	INS	-	-	C													gaggctgaggaagaggagctINScccctggtgctgcatctgca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:41106184_41106185insC	ENST00000355341.4	+	10	1754_1755	c.1253_1254insC	c.(1252-1257)ctccccfs	p.LP418fs	ZFYVE19_ENST00000299173.10_Frame_Shift_Ins_p.LP350fs|ZFYVE19_ENST00000570108.1_Frame_Shift_Ins_p.LP395fs|ZFYVE19_ENST00000564258.1_Frame_Shift_Ins_p.LP243fs|ZFYVE19_ENST00000336455.5_Frame_Shift_Ins_p.LP408fs	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	418					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)		GAAGAGGAGCTCCCCTGGTGCT	0.614																																					p.L418fs		.											.	ZFYVE19-91	0			c.1253_1254insC						.																																			SO:0001589	frameshift_variant	84936	exon10			AGGAGCTCCCCTG	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.1257dupC	15.37:g.41106188_41106188dupC	ENSP00000347498:p.Leu418fs	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	72	8	NM_001077268	0	0	0	0	0	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Frame_Shift_Ins	INS	ENST00000355341.4	37	CCDS42025.1																																																																																			.		0.614	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		C	41106185	-	C	41106184	7	5	52	1	0	1	1	0	0	0	0	0	17713	1551	54	0	1291	0	ZFYVE19	15	41106184	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	7747193	41106184	61425208	468	11119											
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42137956	42137956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggcttcctgagtcccGcatctgcttcttagaaggtg	12	10	2	3	rs150220260		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:42137956G>A	ENST00000452633.1	+	16	1830	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R493H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R724H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R724H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R724H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	493	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCTGAGTCCCGCATCTGCTTC	0.602													G|||	1	0.000199681	0	0	5008	,	,		17007	0		0.001	False		,,,				2504	0				p.R724H		.											.	JMJD7-PLA2G4B-135	0			c.G2171A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51	52	52		1478,2171,2171	5.1	1	15	dbSNP_134	52	2,8598		0,2,4298	no	missense,missense,missense	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	493/782,724/894,724/1013	42137956	2,13004	2203	4300	6503	SO:0001583	missense	8681	exon20			AGTCCCGCATCTG	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1478G>A	15.37:g.42137956G>A	ENSP00000396045:p.Arg493His	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	35	26	NM_005090	0	0	1	17	16	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	22.3	4.268265	0.80469	0.0	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.12	5.12	0.69794	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.085303	0.48286	D	0.000200	T	0.28665	0.0710	M	0.90019	3.08	0.33787	D	0.624981	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.995;0.95;0.975;0.992	T	0.49978	-0.8881	10	0.66056	D	0.02	-13.567	17.7004	0.88293	0.0:0.0:1.0:0.0	.	493;724;194;724	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	H	724;724;493;493	ENSP00000371886:R724H;ENSP00000342785:R724H;ENSP00000416610:R493H;ENSP00000396045:R493H	ENSP00000342785:R724H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39925248	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.460000	0.60108	2.542000	0.85734	0.491000	0.48974	CGC	G|1.000;A|0.000		0.602	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		A	42137956	G	A	42137956	3	1	52	1	0	0	0	0	1	0	0	0	7982	1087	38	1	2249	1	JMJD7-PLA2G4B	15	42137956	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1031772	42137956	60393436	469	11120											
SCG3	29106	broad.mit.edu	37	chr15	52011690	52011690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttgacaaggaagaagcCgaggccatcaagcgcattta	10	10	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:52011690C>T	ENST00000220478.3	+	12	1777	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	SCG3_ENST00000542355.2_Silent_p.A226A	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	458					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAAGAAGCCGAGGCCATCA	0.368																																					p.A458A		.											.	SCG3-91	0			c.C1374T						.						59	58	58					15																	52011690		2195	4293	6488	SO:0001819	synonymous_variant	29106	exon12			AGAAGCCGAGGCC	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.1374C>T	15.37:g.52011690C>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	74	3	NM_013243	0	0	0	0	0	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	CCDS10142.1																																																																																			.		0.368	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		T	52011690	C	T	52011690	2	4	52	1	0	0	0	0	0	0	0	1	13937	639	23	1		1	SCG3	15	52011690	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	9873734	52011690	50519702	470	11121											
LACTB	114294	hgsc.bcm.edu	37	chr15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgccatgtaccggctcAtgtcagcagtgactgcccgg	13	13	2	2	rs34317102	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4	4	4		13,13	3.1	1	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		C	63414083	A	C	63414083	3	2	52	1	0	0	0	0	1	0	0	0	8625	217	8	5	15	5	LACTB	15	63414083	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	11402393	63414083	39117309	471	11122											
DENND4A	10260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65995235	65995235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttcttctgaacatgggCaaagggctattaggactact	10	7	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:65995235C>T	ENST00000431932.2	-	16	2407	c.2199G>A	c.(2197-2199)ttG>ttA	p.L733L	DENND4A_ENST00000443035.3_Silent_p.L733L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	733					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						TGAACATGGGCAAAGGGCTAT	0.328																																					p.L733L		.											.	DENND4A-229	0			c.G2199A						.						209	196	200					15																	65995235		1825	4073	5898	SO:0001819	synonymous_variant	10260	exon16			CATGGGCAAAGGG	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.2199G>A	15.37:g.65995235C>T		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	34	31	NM_001144823	0	0	0	4	4	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																			.		0.328	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65995235	C	T	65995235	2	4	52	1	0	0	0	0	0	0	0	1	4447	709	25	3		3	DENND4A	15	65995235	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2581152	65995235	36536157	472	11123											
CLK3	1198	bcgsc.ca	37	chr15	74921337	74921337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatgagaacagctctgaCggccggtatgtgaaggagaa	16	6	1	4	rs192164311		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:74921337C>T	ENST00000395066.3	+	12	2165	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	CLK3_ENST00000345005.4_Silent_p.D420D|CLK3_ENST00000352989.5_Silent_p.D397D|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ACAGCTCTGACGGCCGGTATG	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		19490	0		0	False		,,,				2504	0				p.D568D	Ovarian(133;694 1754 28950 29027 31859)	.											.	CLK3-358	0			c.C1704T						.						74	76	75					15																	74921337		2197	4296	6493	SO:0001819	synonymous_variant	1198	exon12			CTCTGACGGCCGG	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.1704C>T	15.37:g.74921337C>T		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	121	5	NM_001130028	0	0	76	77	1	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	CCDS45304.1																																																																																			C|0.999;T|0.000		0.522	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			T	74921337	C	T	74921337	2	4	52	1	0	0	0	0	0	0	0	1	3545	535	19	1		1	CLK3	15	74921337	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8926102	74921337	27610055	473	11124											
FBXO22	26263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	76225297	76225297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctagtgttcccttattcGgcttctttggaaatggagaa	9	8	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:76225297G>A	ENST00000308275.3	+	7	1171	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S	FBXO22_ENST00000540507.1_Missense_Mutation_p.G252S	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	356					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.G356C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCCTTATTCGGCTTCTTTGG	0.403																																					p.G356S		.											.	FBXO22-658	1	Substitution - Missense(1)	lung(1)	c.G1066A						.						194	193	194					15																	76225297		2197	4294	6491	SO:0001583	missense	26263	exon7			TTATTCGGCTTCT	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.1066G>A	15.37:g.76225297G>A	ENSP00000307833:p.Gly356Ser	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	98	23	NM_147188	0	0	24	27	3	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396754	0.96009	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.82	5.82	0.92795	FIST C domain (1);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89186	0.3547	9	0.87932	D	0	-27.2227	19.0872	0.93209	0.0:0.0:1.0:0.0	.	356	Q8NEZ5	FBX22_HUMAN	S	356;252	.	ENSP00000307833:G356S	G	+	1	0	FBXO22	74012352	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	9.122000	0.94380	2.752000	0.94435	0.655000	0.94253	GGC	.		0.403	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		A	76225297	G	A	76225297	3	1	52	1	0	0	0	0	1	0	0	0	5756	1116	39	1	1129	1	FBXO22	15	76225297	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1303960	76225297	26306095	474	11125											
C15orf40	123207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	83679055	83679055	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgacgcatcctttaggatCaactgccacaggacctaagg	11	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:83679055C>T	ENST00000513601.2	-	2	179	c.172G>A	c.(172-174)Gat>Aat	p.D58N	C15orf40_ENST00000538348.2_Missense_Mutation_p.D58N|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Missense_Mutation_p.D31N|C15orf40_ENST00000451195.3_Missense_Mutation_p.D58N|RP11-382A20.7_ENST00000570202.1_RNA			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	58								p.D31N(1)|p.D58N(1)		large_intestine(3)|lung(2)|skin(1)	6						CCTTTAGGATCAACTGCCACA	0.463																																					p.D58N		.											.	C15orf40-91	2	Substitution - Missense(2)	lung(2)	c.G172A						.						225	198	207					15																	83679055		2203	4300	6503	SO:0001583	missense	123207	exon2			TAGGATCAACTGC	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.172G>A	15.37:g.83679055C>T	ENSP00000424666:p.Asp58Asn	Somatic	262	0		WXS	Illumina GAIIx	Phase_I	183	153	NM_001160116	0	0	0	4	4	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275097	0.59649	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.65	5.65	0.86999	.	0.052124	0.64402	D	0.000001	T	0.43233	0.1238	N	0.08118	0	0.52501	D	0.999951	B;B;P;P	0.44006	0.069;0.383;0.824;0.681	B;B;B;B	0.37833	0.024;0.155;0.259;0.256	T	0.41787	-0.9489	10	0.25751	T	0.34	-36.6732	18.8669	0.92296	0.0:1.0:0.0:0.0	.	31;58;58;58	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	N	58;58;31;58	ENSP00000441077:D58N;ENSP00000403987:D58N;ENSP00000307071:D31N;ENSP00000424666:D58N	ENSP00000307071:D31N	D	-	1	0	C15orf40	81470059	0.996000	0.38824	0.219000	0.23793	0.948000	0.59901	3.793000	0.55484	2.824000	0.97209	0.655000	0.94253	GAT	.		0.463	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		T	83679055	C	T	83679055	3	4	52	1	0	0	0	0	1	0	0	0	1799	826	29	3	773	3	C15orf40	15	83679055	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7453758	83679055	18852337	475	11126											
ALPK3	57538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	85360157	85360157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagtcacggctggtgcCaggaagagggctggttcttt	17	8	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:85360157C>T	ENST00000258888.5	+	1	247	c.80C>T	c.(79-81)cCa>cTa	p.P27L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	27					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)			CGGCTGGTGCCAGGAAGAGGG	0.657																																					p.P27L		.											.	ALPK3-337	0			c.C80T						.						72	63	66					15																	85360157		2203	4299	6502	SO:0001583	missense	57538	exon1			TGGTGCCAGGAAG	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.80C>T	15.37:g.85360157C>T	ENSP00000258888:p.Pro27Leu	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	220	21	NM_020778	0	0	0	0	0	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649099	0.47362	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	2.4	1.43	0.22495	.	.	.	.	.	T	0.45895	0.1365	N	0.14661	0.345	0.09310	N	1	P	0.41524	0.753	B	0.43838	0.433	T	0.35748	-0.9776	9	0.87932	D	0	-0.0022	6.1993	0.20567	0.2997:0.7003:0.0:0.0	.	27	Q96L96	ALPK3_HUMAN	L	27	ENSP00000258888:P27L	ENSP00000258888:P27L	P	+	2	0	ALPK3	83161161	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	0.121000	0.15667	0.535000	0.28714	0.491000	0.48974	CCA	.		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		T	85360157	C	T	85360157	3	4	52	1	0	0	0	0	1	0	0	0	546	594	21	3	82	3	ALPK3	15	85360157	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1681102	85360157	17171235	476	11127											
HDDC3	374659	bcgsc.ca	37	chr15	91475059	91475060	+	Frame_Shift_Del	DEL	AG	AG	-													tctttctctccagcttgggcAgagtcttgtcatctgttacc					rs575157554		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	AG	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:91475059_91475060delAG	ENST00000394272.3	-	3	311_312	c.283_284delCT	c.(283-285)ctgfs	p.L95fs	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000330334.3_Frame_Shift_Del_p.L95fs|HDDC3_ENST00000559898.1_Frame_Shift_Del_p.L95fs|AC068831.3_ENST00000438890.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3	95	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCTTGGGCAGAGTCTTGTCA	0.594											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.95_95del		.											.	HDDC3-91	0			c.283_284del						.		,	16,4246		1,14,2116					,	3.7	1			86	16,8236		8,0,4118	no	frameshift,intron	UNC45A,HDDC3	NM_198527.2,NM_001039675.1	,	9,14,6234	A1A1,A1R,RR		0.1939,0.3754,0.2557	,	,		32,12482				SO:0001589	frameshift_variant	374659	exon3			TTGGGCAGAGTCT	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.283_284delCT	15.37:g.91475061_91475062delAG	ENSP00000377814:p.Leu95fs	Somatic	60	0	1282	WXS	Illumina GAIIx	Phase_I	33	7	NM_198527	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000394272.3	37																																																																																				.		0.594	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		-	91475060	AG	-	91475059	7	5	52	1	0	1	0	1	0	0	0	0	7044	188	7	0	146	0	HDDC3	15	91475059	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LJ-01A-11D-A29I-10	6114902	91475059	11056333	477	11128											
ARRDC4	91947	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	98513945	98513945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtatacaagaattccGgtttcaacccccacctcttt	5	14	2	1	rs575728067	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:98513945G>A	ENST00000268042.6	+	7	1336	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ARRDC4_ENST00000538249.1_Missense_Mutation_p.R304Q	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	391					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CAAGAATTCCGGTTTCAACCC	0.393													G|||	6	0.00119808	0	0	5008	,	,		17799	0		0	False		,,,				2504	0.0061				p.R391Q		.											.	ARRDC4-90	0			c.G1172A						.						104	89	94					15																	98513945		2197	4298	6495	SO:0001583	missense	91947	exon7			AATTCCGGTTTCA	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1172G>A	15.37:g.98513945G>A	ENSP00000268042:p.Arg391Gln	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	41	4	NM_183376	0	0	0	0	0	Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115952	0.56505	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.10763	2.84;2.99	5.49	4.58	0.56647	.	0.084809	0.50627	N	0.000120	T	0.13670	0.0331	M	0.65975	2.015	0.46356	D	0.999007	B;B	0.30033	0.174;0.266	B;B	0.19946	0.007;0.027	T	0.02275	-1.1184	10	0.42905	T	0.14	-13.6376	14.3487	0.66685	0.0711:0.0:0.9289:0.0	.	391;304	Q8NCT1;F5H824	ARRD4_HUMAN;.	Q	304;391	ENSP00000443774:R304Q;ENSP00000268042:R391Q	ENSP00000268042:R391Q	R	+	2	0	ARRDC4	96314949	1.000000	0.71417	0.573000	0.28510	0.010000	0.07245	7.519000	0.81809	1.453000	0.47775	0.655000	0.94253	CGG	.		0.393	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		A	98513945	G	A	98513945	3	1	52	1	0	0	0	0	1	0	0	0	986	1116	39	1	1198	1	ARRDC4	15	98513945	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	7038886	98513945	4017447	478	11129											
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	100594247	100594247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgatggaccccttacccGagtctttgagagctagaaag	11	9	1	3	rs143817747	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:100594247G>A	ENST00000268070.4	-	16	2255	c.2150C>T	c.(2149-2151)tCg>tTg	p.S717L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	717	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S717L(1)		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)		CCCCTTACCCGAGTCTTTGAG	0.532													G|||	3	0.000599042	0	0	5008	,	,		17330	0		0.003	False		,,,				2504	0				p.S717L		.											.	ADAMTS17-228	1	Substitution - Missense(1)	large_intestine(1)	c.C2150T						.	G	LEU/SER	0,4406		0,0,2203	106	111	109		2150	5	0.4	15	dbSNP_134	109	8,8592	5.7+/-21.5	0,8,4292	yes	missense	ADAMTS17	NM_139057.2	145	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign	717/1096	100594247	8,12998	2203	4300	6503	SO:0001583	missense	170691	exon16			TTACCCGAGTCTT	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.2150C>T	15.37:g.100594247G>A	ENSP00000268070:p.Ser717Leu	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	57	43	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.53	3.844130	0.71488	0.0	9.3E-4	ENSG00000140470	ENST00000268070	T	0.52983	0.64	5.97	5.04	0.67666	ADAM-TS Spacer 1 (1);	0.147808	0.44902	D	0.000403	T	0.39226	0.1070	L	0.33668	1.02	0.50039	D	0.999847	D	0.53151	0.958	B	0.41917	0.37	T	0.15492	-1.0435	10	0.27785	T	0.31	.	16.5202	0.84312	0.0:0.0:0.868:0.132	.	717	Q8TE56	ATS17_HUMAN	L	717	ENSP00000268070:S717L	ENSP00000268070:S717L	S	-	2	0	ADAMTS17	98411770	1.000000	0.71417	0.435000	0.26784	0.881000	0.50899	9.235000	0.95353	1.511000	0.48818	0.655000	0.94253	TCG	G|0.999;A|0.001		0.532	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100594247	G	A	100594247	3	1	52	1	0	0	0	0	1	0	0	0	262	1059	37	1	1165	1	ADAMTS17	15	100594247	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2080302	100594247	1937145	479	11130											
OR4F15	390649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	102358851	102358851	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctctatcattggccttatCcactcattggtccaattagt	5	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr15:102358851C>T	ENST00000332238.4	+	1	486	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGGCCTTATCCACTCATTGG	0.413																																					p.I154I		.											.	OR4F15-68	0			c.C462T						.						237	220	226					15																	102358851		2203	4300	6503	SO:0001819	synonymous_variant	390649	exon1			CCTTATCCACTCA	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.462C>T	15.37:g.102358851C>T		Somatic	247	0		WXS	Illumina GAIIx	Phase_I	187	53	NM_001001674	0	0	0	0	0	B2RNQ5|Q6IF57|Q96R70	Silent	SNP	ENST00000332238.4	37	CCDS32342.1																																																																																			.		0.413	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		T	102358851	C	T	102358851	2	4	52	1	0	0	0	0	0	0	0	1	11100	845	30	3		3	OR4F15	15	102358851	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1764604	102358851	172541	480	11131											
ITFG3	83986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	314146	314146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttctggggcctccaCgagctggggagcaccagcga	13	13	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:314146C>T	ENST00000399932.3	+	11	1771	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	ITFG3_ENST00000600536.1_Silent_p.H440H|ITFG3_ENST00000301678.3_Silent_p.H440H|ITFG3_ENST00000442458.2_Silent_p.H440H|ITFG3_ENST00000450082.2_Silent_p.H440H|ITFG3_ENST00000301679.2_Silent_p.H440H	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	440						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGGGCCTCCACGAGCTGGGGA	0.697																																					p.H440H		.											.	ITFG3-90	0			c.C1320T						.						13	18	16					16																	314146		1957	4141	6098	SO:0001819	synonymous_variant	83986	exon11			CCTCCACGAGCTG	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1320C>T	16.37:g.314146C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	28	23	NM_032039	0	0	1	19	18	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	CCDS10402.1																																																																																			.		0.697	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		T	314146	C	T	314146	2	4	52	1	0	0	0	0	0	0	0	1	7898	535	19	1		1	ITFG3	16	314146	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		314146	90040607	481	11132											
JMJD8	339123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	732820	732820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaggtggagatgaagaCgctggtgtcaaggttgagcg	19	4	1	4	rs113649865	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:732820C>T	ENST00000293882.4	-	9	978	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	JMJD8_ENST00000562824.1_Missense_Mutation_p.V227I|JMJD8_ENST00000562111.1_Missense_Mutation_p.V212I|JMJD8_ENST00000609261.1_Missense_Mutation_p.V257I|JMJD8_ENST00000454700.1_Missense_Mutation_p.V297I|JMJD8_ENST00000412368.2_Missense_Mutation_p.V278I			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	327	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						GAGATGAAGACGCTGGTGTCA	0.587													C|||	5	0.000998403	0	0.0029	5008	,	,		19417	0.003		0	False		,,,				2504	0				p.V278I		.											.	JMJD8-67	0			c.G832A						.						45	52	49					16																	732820		2149	4256	6405	SO:0001583	missense	339123	exon9			TGAAGACGCTGGT		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.979G>A	16.37:g.732820C>T	ENSP00000293882:p.Val327Ile	Somatic	238	2		WXS	Illumina GAIIx	Phase_I	144	122	NM_001005920	0	0	2	60	58	B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.9	4.072303	0.76415	.	.	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	T;T;T	0.69040	-0.37;-0.37;-0.37	4.78	4.78	0.61160	.	0.066357	0.64402	D	0.000013	T	0.71065	0.3296	L	0.41079	1.255	0.58432	D	0.999995	D	0.67145	0.996	P	0.58820	0.846	T	0.67237	-0.5721	10	0.25751	T	0.34	-40.6105	17.0034	0.86386	0.0:1.0:0.0:0.0	.	297	Q96S16-2	.	I	278;327;297	ENSP00000399475:V278I;ENSP00000293882:V327I;ENSP00000394147:V297I	ENSP00000293882:V327I	V	-	1	0	JMJD8	672821	1.000000	0.71417	0.982000	0.44146	0.257000	0.26127	7.232000	0.78116	2.482000	0.83794	0.655000	0.94253	GTC	C|0.999;T|0.001		0.587	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		T	732820	C	T	732820	3	4	52	1	0	0	0	0	1	0	0	0	7983	536	19	1	29	1	JMJD8	16	732820	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	418674	732820	89621933	482	11133											
UBE2I	7329	bcgsc.ca	37	chr16	1364365	1364365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgggagtgcgccattccAggaaagaaaggggtaagggg	17	6	0	1	rs4610	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:1364365A>G	ENST00000355803.4	+	3	689	c.138A>G	c.(136-138)ccA>ccG	p.P46P	UBE2I_ENST00000402301.1_Silent_p.P46P|UBE2I_ENST00000325437.5_Silent_p.P46P|UBE2I_ENST00000566587.1_Silent_p.P46P|UBE2I_ENST00000403747.2_Silent_p.P46P|UBE2I_ENST00000397514.3_Silent_p.P46P|UBE2I_ENST00000406620.1_Silent_p.P46P|UBE2I_ENST00000397515.2_Silent_p.P46P	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	46					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GCGCCATTCCAGGAAAGAAAG	0.577													A|||	696	0.138978	0.1634	0.2262	5008	,	,		17411	0.0456		0.1382	False		,,,				2504	0.1411				p.P46P		.											.	UBE2I-290	0			c.A138G						.	A	,,,	691,3707	286.3+/-278.7	58,575,1566	67	65	66		138,138,138,138	-4	0.7	16	dbSNP_52	66	1228,7372	246.2+/-274.8	87,1054,3159	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UBE2I	NM_003345.4,NM_194259.2,NM_194260.2,NM_194261.2	,,,	145,1629,4725	GG,GA,AA		14.2791,15.7117,14.7638	,,,	46/159,46/159,46/159,46/159	1364365	1919,11079	2199	4300	6499	SO:0001819	synonymous_variant	7329	exon3			CATTCCAGGAAAG	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.138A>G	16.37:g.1364365A>G		Somatic	175	1		WXS	Illumina GAIIx	Phase_I	133	6	NM_003345	0	0	1	1	0	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	CCDS10433.1																																																																																			A|0.870;G|0.130		0.577	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		G	1364365	A	G	1364365	2	3	52	1	0	0	0	0	0	0	0	1	16908	175	7	4		4	UBE2I	16	1364365	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	631545	1364365	88990388	483	11134											
RNF151	146310	hgsc.bcm.edu	37	chr16	2018635	2018635	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctgggctgcggggccacCctggacccggccgagcgtgc	16	18	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:2018635C>A	ENST00000569714.1	+	4	455	c.447C>A	c.(445-447)acC>acA	p.T149T	RNF151_ENST00000321392.3_Silent_p.T148T|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	149					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						GCGGGGCCACCCTGGACCCGG	0.736																																					p.T149T		.											.	RNF151-22	0			c.C447A						.						4	5	5					16																	2018635		1936	3967	5903	SO:0001819	synonymous_variant	146310	exon4			GGCCACCCTGGAC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.447C>A	16.37:g.2018635C>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	25	23	NM_174903	0	0	0	0	0	Q8NHS5	Silent	SNP	ENST00000569714.1	37	CCDS58405.1																																																																																			.		0.736	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		A	2018635	C	A	2018635	2	1	52	1	0	0	0	0	0	0	0	1	13497	610	22	3		3	RNF151	16	2018635	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	654270	2018635	88336118	484	11135											
PKMYT1	9088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3024609	3024609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccagccctccccaccGtggggcagctccatgttgca	11	17	0	0	rs371472836		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:3024609G>A	ENST00000262300.8	-	5	1429	c.921C>T	c.(919-921)caC>caT	p.H307H	PKMYT1_ENST00000440027.2_Silent_p.H307H|PKMYT1_ENST00000574385.1_Silent_p.H298H|PKMYT1_ENST00000573944.1_Silent_p.H298H|PKMYT1_ENST00000574730.1_Silent_p.H238H|PKMYT1_ENST00000431515.2_Silent_p.H307H	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTCCCCACCGTGGGGCAGCT	0.682																																					p.H307H		.											.	PKMYT1-765	0			c.C921T						.	G	,	1,4361		0,1,2180	16	14	14		921,921	-10.3	0.1	16		14	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous	PKMYT1	NM_004203.4,NM_182687.2	,	0,1,6465	AA,AG,GG		0.0,0.0229,0.0077	,	307/500,307/481	3024609	1,12931	2181	4285	6466	SO:0001819	synonymous_variant	9088	exon5			CCCACCGTGGGGC	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.921C>T	16.37:g.3024609G>A		Somatic	277	1		WXS	Illumina GAIIx	Phase_I	162	122	NM_182687	0	0	2	23	21	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	CCDS10486.1																																																																																			.		0.682	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		A	3024609	G	A	3024609	2	1	52	1	0	0	0	0	0	0	0	1	12017	1136	40	1		1	PKMYT1	16	3024609	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1005974	3024609	87330144	485	11136											
ZNF263	10127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3340332	3340332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtataaatgtaccctttgtgGggaaaacttctctcatagat	8	7	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:3340332G>T	ENST00000219069.5	+	6	2702	c.1826G>T	c.(1825-1827)gGg>gTg	p.G609V	ZNF263_ENST00000538765.1_Missense_Mutation_p.G257V	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	609					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						ACCCTTTGTGGGGAAAACTTC	0.468																																					p.G609V		.											.	ZNF263-94	0			c.G1826T						.						71	69	70					16																	3340332		2197	4300	6497	SO:0001583	missense	10127	exon6			TTTGTGGGGAAAA	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.1826G>T	16.37:g.3340332G>T	ENSP00000219069:p.Gly609Val	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	60	13	NM_005741	0	0	4	7	3	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281724	0.59758	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.01495	4.83;4.83	5.71	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000023	T	0.13756	0.0333	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.00904	-1.1520	10	0.87932	D	0	.	12.9397	0.58335	0.0787:0.0:0.9213:0.0	.	609	O14978	ZN263_HUMAN	V	257;609	ENSP00000444497:G257V;ENSP00000219069:G609V	ENSP00000219069:G609V	G	+	2	0	ZNF263	3280333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.743000	0.68655	1.571000	0.49722	0.561000	0.74099	GGG	.		0.468	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			T	3340332	G	T	3340332	3	4	52	1	0	0	0	0	1	0	0	0	17851	1232	43	3	1848	3	ZNF263	16	3340332	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	315723	3340332	87014421	486	11137											
ERCC4	2072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	14041727	14041727	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaagcgtcccgtgcttctGattgagtttgaccctagcaa	9	11	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:14041727G>A	ENST00000311895.7	+	11	2283	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	758	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCGTGCTTCTGATTGAGTTTG	0.483			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.L758L		.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	.	ERCC4-665	0			c.G2274A						.						124	119	121					16																	14041727		2197	4300	6497	SO:0001819	synonymous_variant	2072	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GCTTCTGATTGAG	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2274G>A	16.37:g.14041727G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	79	8	NM_005236	0	0	0	0	0	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1																																																																																			.		0.483	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14041727	G	A	14041727	2	1	52	1	0	0	0	0	0	0	0	1	5231	1277	45	3		3	ERCC4	16	14041727	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10701395	14041727	76313026	487	11138											
ABCC1	4363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	16184382	16184382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctggctcgagacggcGccttcgctgagttcctgcgt	14	13	0	2	rs45517537		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:16184382G>A	ENST00000399410.3	+	19	2756	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	ABCC1_ENST00000349029.5_Missense_Mutation_p.A746T|ABCC1_ENST00000346370.5_Missense_Mutation_p.A805T|ABCC1_ENST00000351154.5_Missense_Mutation_p.A802T|ABCC1_ENST00000345148.5_Missense_Mutation_p.A861T|ABCC1_ENST00000399408.2_Missense_Mutation_p.A861T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	861	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		A -> T (in dbSNP:rs45517537). {ECO:0000269|Ref.4}.		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)	TCGAGACGGCGCCTTCGCTGA	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		17381	0		0	False		,,,				2504	0				p.A861T		.											.	ABCC1-94	0			c.G2581A						.						32	35	34					16																	16184382		2057	4200	6257	SO:0001583	missense	4363	exon19			GACGGCGCCTTCG	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.2581G>A	16.37:g.16184382G>A	ENSP00000382342:p.Ala861Thr	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	64	54	NM_004996	0	0	2	11	9	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.65	3.442408	0.63067	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.152379	0.64402	D	0.000019	T	0.78381	0.4274	N	0.16066	0.365	0.58432	D	0.999995	P;B;P;D;B;B	0.89917	0.743;0.179;0.88;1.0;0.028;0.048	B;B;B;P;B;B	0.62382	0.314;0.049;0.355;0.901;0.011;0.024	T	0.81942	-0.0702	10	0.59425	D	0.04	-19.9851	18.174	0.89756	0.0:0.0:1.0:0.0	rs45517537	746;861;805;802;861;861	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	T	861;861;805;802;861;746;535	ENSP00000382342:A861T;ENSP00000382340:A861T;ENSP00000263019:A805T;ENSP00000263017:A802T;ENSP00000263014:A861T;ENSP00000263016:A746T	ENSP00000263014:A861T	A	+	1	0	ABCC1	16091883	1.000000	0.71417	0.998000	0.56505	0.081000	0.17604	7.963000	0.87922	2.531000	0.85337	0.655000	0.94253	GCC	G|1.000;A|0.000		0.612	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16184382	G	A	16184382	3	1	52	1	0	0	0	0	1	0	0	0	49	1087	38	1	2655	1	ABCC1	16	16184382	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2142655	16184382	74170371	488	11139											
COG7	91949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	23415033	23415033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtccatcttcgaaataagCaacagctgttgtttgatgcg	9	9	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:23415033C>T	ENST00000307149.5	-	13	1970	c.1785G>A	c.(1783-1785)ttG>ttA	p.L595L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	595					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)		p.L595L(1)		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)		TCGAAATAAGCAACAGCTGTT	0.542																																					p.L595L		.											.	COG7-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G1785A						.						91	82	85					16																	23415033		2197	4300	6497	SO:0001819	synonymous_variant	91949	exon13			AATAAGCAACAGC	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.1785G>A	16.37:g.23415033C>T		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	139	14	NM_153603	0	0	13	15	2	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																			.		0.542	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			T	23415033	C	T	23415033	2	4	52	1	0	0	0	0	0	0	0	1	3670	709	25	3		3	COG7	16	23415033	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7230651	23415033	66939720	489	11140											
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	29997670	29997670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcgggagctggagctgCggcagctccaggccgtgcag	17	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:29997670C>T	ENST00000308893.4	+	16	3120	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	TAOK2_ENST00000543033.1_Missense_Mutation_p.R693W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R520W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R693W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	693					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGAGCTGCGGCAGCTCCA	0.642																																					p.R693W		.											.	TAOK2-521	0			c.C2077T						.						40	40	40					16																	29997670		2197	4294	6491	SO:0001583	missense	9344	exon16			GAGCTGCGGCAGC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2077C>T	16.37:g.29997670C>T	ENSP00000310094:p.Arg693Trp	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	88	6	NM_004783	0	0	42	44	2	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083995	0.55861	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.53423	0.62;0.62;0.62	5.28	0.315	0.15852	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.75777	2.31	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.995;1.0;0.999;0.997	T	0.68569	-0.5374	9	.	.	.	.	15.477	0.75489	0.4666:0.5334:0.0:0.0	.	884;520;693;693;693	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	693	ENSP00000310094:R693W;ENSP00000440336:R693W;ENSP00000279394:R693W	.	R	+	1	2	TAOK2	29905171	0.981000	0.34729	0.528000	0.27938	0.959000	0.62525	2.608000	0.46308	0.207000	0.20607	-0.261000	0.10672	CGG	.		0.642	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29997670	C	T	29997670	3	4	52	1	0	0	0	0	1	0	0	0	15595	759	27	1	2135	1	TAOK2	16	29997670	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6582637	29997670	60357083	490	11141											
PRR14	78994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30664048	30664048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctcttccaggtccccGtggtgccctcaaagcagacc	8	16	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:30664048G>A	ENST00000542965.2	+	3	655	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PRR14_ENST00000300835.4_Missense_Mutation_p.V67M			Q9BWN1	PRR14_HUMAN	proline rich 14	67										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAGGTCCCCGTGGTGCCCTC	0.607																																					p.V67M		.											.	PRR14-90	0			c.G199A						.						100	90	93					16																	30664048		2197	4300	6497	SO:0001583	missense	78994	exon4			GTCCCCGTGGTGC	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.199G>A	16.37:g.30664048G>A	ENSP00000441641:p.Val67Met	Somatic	242	0		WXS	Illumina GAIIx	Phase_I	175	47	NM_024031	0	0	0	0	0	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961293	0.34565	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.47528	0.84;0.84	5.33	-0.661	0.11417	.	0.598474	0.14577	N	0.311105	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	P	0.42039	0.769	B	0.28305	0.088	T	0.14448	-1.0472	10	0.46703	T	0.11	-4.449	5.845	0.18661	0.0:0.4369:0.2965:0.2666	.	67	Q9BWN1	PRR14_HUMAN	M	67	ENSP00000300835:V67M;ENSP00000441641:V67M	ENSP00000300835:V67M	V	+	1	0	PRR14	30571549	0.017000	0.18338	0.611000	0.29010	0.158000	0.22134	0.136000	0.15974	0.013000	0.14918	-0.353000	0.07706	GTG	.		0.607	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		A	30664048	G	A	30664048	3	1	52	1	0	0	0	0	1	0	0	0	12628	1145	40	1	209	1	PRR14	16	30664048	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	666378	30664048	59690705	491	11142											
RNF40	9810	broad.mit.edu;bcgsc.ca	37	chr16	30780607	30780607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcagttgcgggaaaaggAtgatgccaactttaagctaa	11	7	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:30780607A>G	ENST00000324685.6	+	16	2783	c.2348A>G	c.(2347-2349)gAt>gGt	p.D783G	RNF40_ENST00000402121.3_Missense_Mutation_p.D475G|RNF40_ENST00000357890.5_Missense_Mutation_p.D683G|RNF40_ENST00000563683.1_Missense_Mutation_p.D743G	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	783					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CGGGAAAAGGATGATGCCAAC	0.552																																					p.D783G		.											.	RNF40-226	0			c.A2348G						.						133	135	134					16																	30780607		2197	4300	6497	SO:0001583	missense	9810	exon16			AAAAGGATGATGC	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2348A>G	16.37:g.30780607A>G	ENSP00000325677:p.Asp783Gly	Somatic	334	0		WXS	Illumina GAIIx	Phase_I	216	8	NM_014771	0	0	27	28	1	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133297	0.77662	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.40756	1.02;1.05;1.08	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.81802	2.56	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;0.994;0.998;0.998;0.998	T	0.71846	-0.4469	10	0.87932	D	0	-31.2056	15.2129	0.73241	1.0:0.0:0.0:0.0	.	115;475;683;783;783	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	G	783;683;475;115	ENSP00000325677:D783G;ENSP00000350563:D683G;ENSP00000384942:D475G	ENSP00000325677:D783G	D	+	2	0	RNF40	30688108	1.000000	0.71417	0.950000	0.38849	0.876000	0.50452	8.962000	0.93254	2.233000	0.73108	0.533000	0.62120	GAT	.		0.552	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		G	30780607	A	G	30780607	3	3	52	1	0	0	0	0	1	0	0	0	13538	333	12	4	2406	4	RNF40	16	30780607	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	116559	30780607	59574146	492	11143											
ZNF646	9726	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31091261	31091261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagcggcccttcagctgcGaggtgtgtggccgatcctac	14	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:31091261G>A	ENST00000394979.2	+	1	4039	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1206K			O15015	ZN646_HUMAN	zinc finger protein 646	1206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTCAGCTGCGAGGTGTGTGG	0.642																																					p.E1206K		.											.	ZNF646-153	0			c.G3616A						.						33	38	36					16																	31091261		2196	4300	6496	SO:0001583	missense	9726	exon2			AGCTGCGAGGTGT	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3616G>A	16.37:g.31091261G>A	ENSP00000378429:p.Glu1206Lys	Somatic	218	1		WXS	Illumina GAIIx	Phase_I	152	26	NM_014699	0	0	5	6	1	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298914	0.60195	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.50813	0.73;0.73	5.86	4.88	0.63580	.	.	.	.	.	T	0.54870	0.1885	L	0.28740	0.885	0.09310	N	0.999994	D	0.76494	0.999	D	0.71184	0.972	T	0.49762	-0.8905	9	0.19590	T	0.45	-12.8023	15.0307	0.71705	0.0:0.0:0.8565:0.1435	.	1206	O15015-2	.	K	1206;1206;90	ENSP00000300850:E1206K;ENSP00000378429:E1206K	ENSP00000300850:E1206K	E	+	1	0	ZNF646	30998762	0.567000	0.26626	0.967000	0.41034	0.822000	0.46500	1.324000	0.33712	1.416000	0.47057	0.563000	0.77884	GAG	.		0.642	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31091261	G	A	31091261	3	1	52	1	0	0	0	0	1	0	0	0	18110	1059	37	1	3618	1	ZNF646	16	31091261	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	310654	31091261	59263492	493	11144											
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31473937	31473937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgtgtgcctcctatgtCgtgaggccatcaaccgggcc	14	13	1	1	rs374639681		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:31473937C>T	ENST00000563544.1	+	4	1615	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	ARMC5_ENST00000538189.1_Missense_Mutation_p.R389C|ARMC5_ENST00000457010.2_Missense_Mutation_p.R357C|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Missense_Mutation_p.R452C|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R357C			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	357										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTCCTATGTCGTGAGGCCAT	0.652													c|||	1	0.000199681	0	0	5008	,	,		17770	0		0	False		,,,				2504	0.001				p.R357C		.											.	ARMC5-24	0			c.C1069T						.		CYS/ARG,CYS/ARG	1,4015		0,1,2007	43	49	47		1069,1069	1.5	1	16		47	0,8338		0,0,4169	no	missense,missense	ARMC5	NM_001105247.1,NM_024742.2	180,180	0,1,6176	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging,probably-damaging	357/936,357/726	31473937	1,12353	2008	4169	6177	SO:0001583	missense	79798	exon3			CTATGTCGTGAGG	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.1069C>T	16.37:g.31473937C>T	ENSP00000456877:p.Arg357Cys	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	39	34	NM_024742	0	0	0	7	7	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	15.57	2.871706	0.51695	2.49E-4	0.0	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.8	1.54	0.23209	Armadillo-like helical (1);Armadillo-type fold (1);	0.193329	0.44688	D	0.000435	T	0.38692	0.1050	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68765	0.95;0.96;0.95;0.96	T	0.03597	-1.1021	10	0.42905	T	0.14	-30.6424	8.5743	0.33590	0.3069:0.5445:0.1486:0.0	.	389;452;357;357	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	C	452;389;357;357	ENSP00000386125:R452C;ENSP00000443995:R389C;ENSP00000268314:R357C;ENSP00000399561:R357C	ENSP00000268314:R357C	R	+	1	0	ARMC5	31381438	1.000000	0.71417	0.987000	0.45799	0.541000	0.35023	2.656000	0.46716	0.054000	0.16065	0.457000	0.33378	CGT	.		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31473937	C	T	31473937	3	4	52	1	0	0	0	0	1	0	0	0	955	884	31	1	1079	1	ARMC5	16	31473937	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	382676	31473937	58880816	494	11145											
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	47697593	47697593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatccaatgtctaggtaccGtttctgatcacattgagaga	8	8	3	3	rs56010117	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:47697593G>A	ENST00000323584.5	+	24	2308	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I	PHKB_ENST00000299167.8_Missense_Mutation_p.V762I|PHKB_ENST00000566044.1_Missense_Mutation_p.V755I|PHKB_ENST00000455779.1_Missense_Mutation_p.V755I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	762					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)				TCTAGGTACCGTTTCTGATCA	0.328													G|||	2	0.000399361	0	0.0014	5008	,	,		17538	0		0	False		,,,				2504	0.001				p.V762I		.											.	PHKB-154	0			c.G2284A						.	G	ILE/VAL,ILE/VAL	15,4387	22.3+/-47.3	0,15,2186	208	188	194		2284,2263	3.8	1	16	dbSNP_129	194	0,8600		0,0,4300	yes	missense,missense	PHKB	NM_000293.2,NM_001031835.2	29,29	0,15,6486	AA,AG,GG		0.0,0.3408,0.1154	benign,benign	762/1094,755/1087	47697593	15,12987	2201	4300	6501	SO:0001583	missense	5257	exon24			GGTACCGTTTCTG		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.2284G>A	16.37:g.47697593G>A	ENSP00000313504:p.Val762Ile	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	50	33	NM_000293	0	0	0	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.68	2.310872	0.40895	0.003408	0.0	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92545	-3.06;-3.06	5.73	3.78	0.43462	Glycoside hydrolase 15-related (1);	0.199088	0.44285	N	0.000480	D	0.88883	0.6558	L	0.46947	1.48	0.46927	D	0.999254	B;B	0.19200	0.034;0.018	B;B	0.23275	0.045;0.005	D	0.84595	0.0669	10	0.56958	D	0.05	-18.7004	12.5818	0.56394	0.135:0.0:0.865:0.0	rs56010117	762;755	Q93100;Q93100-4	KPBB_HUMAN;.	I	755;755;762	ENSP00000414345:V755I;ENSP00000313504:V762I	ENSP00000299167:V755I	V	+	1	0	PHKB	46255094	0.944000	0.32072	0.993000	0.49108	0.996000	0.88848	1.236000	0.32683	0.778000	0.33520	-0.136000	0.14681	GTT	G|0.999;A|0.001		0.328	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			A	47697593	G	A	47697593	3	1	52	1	0	0	0	0	1	0	0	0	11884	1145	40	1	2437	1	PHKB	16	47697593	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	16223656	47697593	42657160	495	11146											
NKD1	85407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50667165	50667165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccaatcccactcgatctCgctcccatgagccggaagcc	7	19	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:50667165C>T	ENST00000268459.3	+	10	1110	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	296					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)			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)		CACTCGATCTCGCTCCCATGA	0.592																																					p.R296C		.											.	NKD1-226	0			c.C886T						.						110	108	109					16																	50667165		2198	4300	6498	SO:0001583	missense	85407	exon10			CGATCTCGCTCCC	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.886C>T	16.37:g.50667165C>T	ENSP00000268459:p.Arg296Cys	Somatic	312	1		WXS	Illumina GAIIx	Phase_I	221	181	NM_033119	0	0	0	30	30	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269060	0.80469	.	.	ENSG00000140807	ENST00000268459	T	0.74209	-0.82	4.54	4.54	0.55810	.	0.106321	0.64402	D	0.000003	D	0.86205	0.5877	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88426	0.3032	10	0.87932	D	0	-32.1432	15.6554	0.77129	0.0:1.0:0.0:0.0	.	296	Q969G9	NKD1_HUMAN	C	296	ENSP00000268459:R296C	ENSP00000268459:R296C	R	+	1	0	NKD1	49224666	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	3.413000	0.52686	2.354000	0.79902	0.585000	0.79938	CGC	.		0.592	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			T	50667165	C	T	50667165	3	4	52	1	0	0	0	0	1	0	0	0	10480	884	31	1	924	1	NKD1	16	50667165	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2969572	50667165	39687588	496	11147											
DOK4	55715	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	57507532	57507532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgactcaccagcataGctggaggcttcggcgatgtt	14	10	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:57507532G>A	ENST00000340099.4	-	8	1226	c.855C>T	c.(853-855)agC>agT	p.S285S	DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Silent_p.S285S|DOK4_ENST00000566936.1_Silent_p.S285S	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	285					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						CACCAGCATAGCTGGAGGCTT	0.587																																					p.S285S		.											.	DOK4-227	0			c.C855T						.						139	128	131					16																	57507532		2198	4300	6498	SO:0001819	synonymous_variant	55715	exon8			AGCATAGCTGGAG	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.855C>T	16.37:g.57507532G>A		Somatic	224	0		WXS	Illumina GAIIx	Phase_I	156	35	NM_018110	0	0	3	3	0	O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	CCDS10783.1																																																																																			.		0.587	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			A	57507532	G	A	57507532	2	1	52	1	0	0	0	0	0	0	0	1	4713	962	34	3		3	DOK4	16	57507532	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	6840367	57507532	32847221	497	11148											
CDH8	1006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	61761065	61761065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcaggggcgttgtcaTtgacatccagcactttaata	9	9	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:61761065T>C	ENST00000577390.1	-	9	2423	c.1469A>G	c.(1468-1470)aAt>aGt	p.N490S	CDH8_ENST00000584337.1_Missense_Mutation_p.N490S|CDH8_ENST00000577730.1_Missense_Mutation_p.N490S|CDH8_ENST00000299345.6_Missense_Mutation_p.N490S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	490	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGCGTTGTCATTGACATCCAG	0.393																																					p.N490S		.											.	CDH8-161	0			c.A1469G						.						187	171	176					16																	61761065		2203	4299	6502	SO:0001583	missense	1006	exon9			TTGTCATTGACAT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1469A>G	16.37:g.61761065T>C	ENSP00000462701:p.Asn490Ser	Somatic	161	1		WXS	Illumina GAIIx	Phase_I	131	105	NM_001796	0	0	0	0	0	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673088	0.88445	.	.	ENSG00000150394	ENST00000299345	D	0.85171	-1.95	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	H	0.99090	4.425	0.58432	D	0.999999	P;D	0.76494	0.647;0.999	B;D	0.68353	0.41;0.957	D	0.97769	1.0225	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	306;490	Q3LID3;P55286	.;CADH8_HUMAN	S	490	ENSP00000299345:N490S	ENSP00000299345:N490S	N	-	2	0	CDH8	60318566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	AAT	.		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61761065	T	C	61761065	3	2	52	1	0	0	0	0	1	0	0	0	3123	1493	52	4	946	4	CDH8	16	61761065	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	4253533	61761065	28593688	498	11149											
LRRC36	55282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67380244	67380244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgtcccgtctacaacCgttacccttcctcaaagaac	7	14	2	1	rs529032150		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:67380244C>T	ENST00000329956.6	+	3	303	c.284C>T	c.(283-285)cCg>cTg	p.P95L	LRRC36_ENST00000541146.1_5'Flank|LRRC36_ENST00000563189.1_5'Flank|LRRC36_ENST00000290940.7_5'Flank|LRRC36_ENST00000435835.3_5'Flank|LRRC36_ENST00000563303.1_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	95										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CGTCTACAACCGTTACCCTTC	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		20003	0		0	False		,,,				2504	0				p.P95L		.											.	LRRC36-90	0			c.C284T						.						120	118	119					16																	67380244		2198	4300	6498	SO:0001583	missense	55282	exon3			TACAACCGTTACC	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.284C>T	16.37:g.67380244C>T	ENSP00000329943:p.Pro95Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	72	59	NM_018296	0	0	0	0	0	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967089	0.34754	.	.	ENSG00000159708	ENST00000329956	T	0.23348	1.91	5.55	4.54	0.55810	.	0.325192	0.30159	N	0.010276	T	0.15046	0.0363	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.37091	0.241	T	0.02539	-1.1144	10	0.25751	T	0.34	-11.9804	11.8762	0.52548	0.0:0.8243:0.1756:0.0	.	95	Q1X8D7	LRC36_HUMAN	L	95	ENSP00000329943:P95L	ENSP00000329943:P95L	P	+	2	0	LRRC36	65937745	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.678000	0.37586	2.768000	0.95171	0.655000	0.94253	CCG	.		0.378	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		T	67380244	C	T	67380244	3	4	52	1	0	0	0	0	1	0	0	0	9025	652	23	1	294	1	LRRC36	16	67380244	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5619179	67380244	22974509	499	11150											
C16orf86	388284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67701268	67701268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccagagtgaagaccagCgcccagcaggcgcagcttcg	13	14	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:67701268C>T	ENST00000403458.4	+	2	327	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_Intron	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	58										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)		TGAAGACCAGCGCCCAGCAGG	0.667																																					p.R58C		.											.	.	0			c.C172T						.						21	27	25					16																	67701268		2049	4174	6223	SO:0001583	missense	388284	exon2			GACCAGCGCCCAG		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.172C>T	16.37:g.67701268C>T	ENSP00000384117:p.Arg58Cys	Somatic	193	1		WXS	Illumina GAIIx	Phase_I	156	135	NM_001012984	0	0	0	1	1	B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680645	0.29872	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.15	-4.47	0.03525	.	.	.	.	.	T	0.08537	0.0212	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	8	0.32370	T	0.25	1.0277	1.9404	0.03345	0.1339:0.3439:0.2749:0.2472	.	58	Q6ZW13	CP086_HUMAN	C	58	.	ENSP00000384117:R58C	R	+	1	0	C16orf86	66258769	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.345000	0.19979	-0.422000	0.07405	-0.471000	0.05019	CGC	.		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		T	67701268	C	T	67701268	3	4	52	1	0	0	0	0	1	0	0	0	1844	768	27	1	178	1	C16orf86	16	67701268	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	321024	67701268	22653485	500	11151											
TSNAXIP1	80152	broad.mit.edu	37	chr16	67859858	67859858	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctacgaggaggttcgcaaGgagcatgagatcctcatgca	13	9	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:67859858G>T	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K341N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K272N|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.K287N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGGTTCGCAAGGAGCATGAGA	0.627																																					p.K287N		.											.	TSNAXIP1-90	0			c.G861T						.						56	47	50					16																	67859858		2198	4300	6498	SO:0001628	intergenic_variant	55815	exon9			TCGCAAGGAGCAT	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859858G>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	75	3	NM_018430	0	0	0	0	0	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469527	0.26423	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	4.85	0.62838	.	0.308092	0.28803	N	0.014083	T	0.67850	0.2937	L	0.60455	1.87	0.35640	D	0.810921	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.68943	0.961;0.943;0.961;0.943	T	0.74009	-0.3802	9	0.41790	T	0.15	-37.5715	8.9147	0.35574	0.0755:0.0:0.7776:0.1468	.	272;341;77;287	E7ENJ7;B4DXD0;B4DY78;Q2TAA8	.;.;.;TXIP1_HUMAN	N	272;287;77	.	ENSP00000373485:K287N	K	+	3	2	TSNAXIP1	66417359	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	1.480000	0.35464	1.457000	0.47850	-0.137000	0.14449	AAG	.		0.627	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		T	67859858	G	T	67859858	1	4	52	0	1	0	0	0	0	0	0	0	16680	991	35	3		3	TSNAXIP1	16	67859858	IGR	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	158590	67859858	22494895	501	11152											
VPS4A	27183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	69352767	69352767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatacggtggaacgacGtggccgggctggagggggcc	18	11	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:69352767G>A	ENST00000254950.11	+	5	541	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.V153M	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GTGGAACGACGTGGCCGGGCT	0.617																																					p.V129M		.											.	.	0			c.G385A						.						121	136	132					16																	69352767		1925	4140	6065	SO:0001583	missense	27183	exon5			AACGACGTGGCCG	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.385G>A	16.37:g.69352767G>A	ENSP00000254950:p.Val129Met	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	48	38	NM_013245	0	0	0	30	30		Missense_Mutation	SNP	ENST00000254950.11	37	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560294	0.96527	.	.	ENSG00000132612	ENST00000254950	D	0.95885	-3.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.98583	1.0651	10	0.87932	D	0	-33.1431	19.6509	0.95805	0.0:0.0:1.0:0.0	.	129	Q9UN37	VPS4A_HUMAN	M	129	ENSP00000254950:V129M	ENSP00000254950:V129M	V	+	1	0	VPS4A	67910268	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	9.858000	0.99539	2.941000	0.99782	0.655000	0.94253	GTG	.		0.617	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		A	69352767	G	A	69352767	3	1	52	1	0	0	0	0	1	0	0	0	17261	1145	40	1	403	1	VPS4A	16	69352767	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1492909	69352767	21001986	502	11153											
MLYCD	23417	hgsc.bcm.edu	37	chr16	83933193	83933193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacatcagcaagctggaCggcggcgtgcgcttcctggt	13	14	1	0	rs62640904	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:83933193C>T	ENST00000262430.4	+	1	463	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	148	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCAAGCTGGACGGCGGCGTGC	0.736													C|||	165	0.0329473	0.1029	0.013	5008	,	,		10966	0.002		0.0179	False		,,,				2504	0				p.D148D		.											.	MLYCD-90	0			c.C444T						.	C		252,2956		9,234,1361	6	7	7		444	2.6	1	16	dbSNP_129	7	63,6985		0,63,3461	no	coding-synonymous	MLYCD	NM_012213.2		9,297,4822	TT,TC,CC		0.8939,7.8554,3.0714		148/494	83933193	315,9941	1604	3524	5128	SO:0001819	synonymous_variant	23417	exon1			GCTGGACGGCGGC	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.444C>T	16.37:g.83933193C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_012213	0	0	0	2	2	Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	CCDS42206.1																																																																																			C|0.970;T|0.030		0.736	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		T	83933193	C	T	83933193	2	4	52	1	0	0	0	0	0	0	0	1	9676	535	19	1		1	MLYCD	16	83933193	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14580426	83933193	6421560	503	11154											
MBTPS1	8720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	84092913	84092913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggacactaacctgggcGccgtctcgtttaaaggctgt	13	11	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:84092913G>A	ENST00000343411.3	-	21	3320	c.2825C>T	c.(2824-2826)gCg>gTg	p.A942V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	942					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAACCTGGGCGCCGTCTCGTT	0.532																																					p.A942V		.											.	MBTPS1-92	0			c.C2825T						.						76	73	74					16																	84092913		2200	4300	6500	SO:0001583	missense	8720	exon21			CTGGGCGCCGTCT	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2825C>T	16.37:g.84092913G>A	ENSP00000344223:p.Ala942Val	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	105	15	NM_003791	0	0	1	1	0	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154442	0.78114	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.22945	1.93	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.35723	1.085	0.80722	D	1	B	0.34329	0.449	B	0.20384	0.029	T	0.02115	-1.1211	10	0.39692	T	0.17	-21.0716	19.5469	0.95302	0.0:0.0:1.0:0.0	.	942	Q14703	MBTP1_HUMAN	V	942;387	ENSP00000344223:A942V	ENSP00000344223:A942V	A	-	2	0	MBTPS1	82650414	1.000000	0.71417	0.899000	0.35326	0.809000	0.45718	7.890000	0.87313	2.619000	0.88677	0.561000	0.74099	GCG	.		0.532	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		A	84092913	G	A	84092913	3	1	52	1	0	0	0	0	1	0	0	0	9399	1087	38	1	345	1	MBTPS1	16	84092913	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	159720	84092913	6261840	504	11155											
IL17C	27189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	88706470	88706470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgcgtgctgccccGttcagtgtgaccgccgaggc	13	16	1	1	rs189692693		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:88706470G>A	ENST00000244241.4	+	3	633	c.584G>A	c.(583-585)cGt>cAt	p.R195H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	195					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GTGCTGCCCCGTTCAGTGTGA	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		17095	0		0	False		,,,				2504	0				p.R195H		.											.	IL17C-90	0			c.G584A						.	G	HIS/ARG	0,3882		0,0,1941	43	49	47		584	3.5	0.8	16		47	1,8231		0,1,4115	no	missense	IL17C	NM_013278.3	29	0,1,6056	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	195/198	88706470	1,12113	1941	4116	6057	SO:0001583	missense	27189	exon3			TGCCCCGTTCAGT	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.584G>A	16.37:g.88706470G>A	ENSP00000244241:p.Arg195His	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	92	10	NM_013278	0	0	0	0	0	Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	CCDS42217.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.38	3.107809	0.56291	0.0	1.21E-4	ENSG00000124391	ENST00000244241	T	0.56444	0.46	4.45	3.48	0.39840	.	0.000000	0.56097	D	0.000032	T	0.59115	0.2170	L	0.34521	1.04	0.29368	N	0.864218	D	0.89917	1.0	D	0.83275	0.996	T	0.55685	-0.8102	10	0.87932	D	0	-19.6347	10.7685	0.46308	0.094:0.0:0.906:0.0	.	195	Q9P0M4	IL17C_HUMAN	H	195	ENSP00000244241:R195H	ENSP00000244241:R195H	R	+	2	0	IL17C	87233971	0.991000	0.36638	0.755000	0.31263	0.148000	0.21650	3.851000	0.55926	2.032000	0.59987	0.561000	0.74099	CGT	G|0.999;A|0.000		0.627	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		A	88706470	G	A	88706470	3	1	52	1	0	0	0	0	1	0	0	0	7663	1145	40	1	594	1	IL17C	16	88706470	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4613557	88706470	1648283	505	11156											
CDT1	353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	88873021	88873021	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccagccacccgccaCggagaagctcaccactgctc	9	20	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:88873021C>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.T354M	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCACCCGCCACGGAGAAGCTC	0.677																																					p.T354M		.											.	CDT1-227	0			c.C1061T						.						15	18	17					16																	88873021		2183	4289	6472	SO:0001628	intergenic_variant	81620	exon7			CCGCCACGGAGAA		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873021C>T		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	218	59	NM_030928	0	0	12	18	6	G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	3.816	-0.038711	0.07497	.	.	ENSG00000167513	ENST00000301019	T	0.62105	0.05	4.97	-0.454	0.12197	.	0.955902	0.08723	N	0.903188	T	0.41811	0.1175	N	0.25426	0.745	0.09310	N	1	B	0.31705	0.336	B	0.18561	0.022	T	0.14504	-1.0470	10	0.44086	T	0.13	.	6.3261	0.21244	0.1325:0.3048:0.0:0.5628	.	354	Q9H211	CDT1_HUMAN	M	354	ENSP00000301019:T354M	ENSP00000301019:T354M	T	+	2	0	CDT1	87400522	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.481000	0.06552	-0.340000	0.08388	-1.449000	0.01048	ACG	.		0.677	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		T	88873021	C	T	88873021	1	4	52	0	1	0	0	0	0	0	0	0	3187	536	19	1		1	CDT1	16	88873021	IGR	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	166551	88873021	1481732	506	11157											
CPNE7	27132	broad.mit.edu;bcgsc.ca	37	chr16	89661966	89661966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacggggtgagcccgcGctccgggacatcgtacagtt	13	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:89661966G>A	ENST00000268720.5	+	16	1849	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPNE7_ENST00000319518.8_Silent_p.A498A|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	573	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GTGAGCCCGCGCTCCGGGACA	0.662																																					p.A573A		.											.	CPNE7-90	0			c.G1719A						.						42	41	41					16																	89661966		2197	4295	6492	SO:0001819	synonymous_variant	27132	exon16			GCCCGCGCTCCGG	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1719G>A	16.37:g.89661966G>A		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	174	7	NM_014427	1	0	18	21	2		Silent	SNP	ENST00000268720.5	37	CCDS10980.1																																																																																			.		0.662	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89661966	G	A	89661966	2	1	52	1	0	0	0	0	0	0	0	1	3824	1074	38	1		1	CPNE7	16	89661966	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	788945	89661966	692787	507	11158											
DEF8	54849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	90021667	90021667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaggaccacttctcccGccctgtggtaaggttttaga	11	11	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr16:90021667G>A	ENST00000268676.7	+	4	487	c.398G>A	c.(397-399)cGc>cAc	p.R133H	DEF8_ENST00000418391.2_Missense_Mutation_p.R72H|DEF8_ENST00000570182.1_Missense_Mutation_p.R72H|DEF8_ENST00000563795.1_Missense_Mutation_p.R72H|DEF8_ENST00000567874.1_Missense_Mutation_p.R12H|DEF8_ENST00000563594.1_Missense_Mutation_p.R72H|DEF8_ENST00000569453.1_Missense_Mutation_p.R72H	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	133					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACTTCTCCCGCCCTGTGGTA	0.637																																					p.R133H		.											.	DEF8-68	0			c.G398A						.						84	80	81					16																	90021667		2198	4300	6498	SO:0001583	missense	54849	exon4			TCTCCCGCCCTGT	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.398G>A	16.37:g.90021667G>A	ENSP00000268676:p.Arg133His	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	120	13	NM_207514	0	0	0	0	0	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981105	0.93044	.	.	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.51071	0.72;0.77	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.62016	1.91	0.54753	D	0.999986	P;P;P;D	0.55385	0.954;0.953;0.871;0.971	B;B;B;P	0.49252	0.378;0.33;0.14;0.604	T	0.61342	-0.7082	10	0.56958	D	0.05	-16.1584	16.717	0.85399	0.0:0.0:1.0:0.0	.	72;72;133;72	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	H	133;72	ENSP00000268676:R133H;ENSP00000412784:R72H	ENSP00000268676:R133H	R	+	2	0	DEF8	88549168	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.413000	0.90235	2.293000	0.77203	0.561000	0.74099	CGC	.		0.637	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		A	90021667	G	A	90021667	3	1	52	1	0	0	0	0	1	0	0	0	4396	1087	38	1	408	1	DEF8	16	90021667	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	359701	90021667	333086	508	11159											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3954155	3954155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtggcactgctgcgcGtctgggggtccagcttctcc	17	12	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:3954155G>A	ENST00000381638.2	-	36	5907	c.5783C>T	c.(5782-5784)aCg>aTg	p.T1928M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1928							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T1928M(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTGCTGCGCGTCTGGGGGTC	0.597																																					p.T1928M		.											.	ZZEF1-93	1	Substitution - Missense(1)	large_intestine(1)	c.C5783T						.						64	59	61					17																	3954155		2203	4300	6503	SO:0001583	missense	23140	exon36			CTGCGCGTCTGGG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5783C>T	17.37:g.3954155G>A	ENSP00000371051:p.Thr1928Met	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	94	72	NM_015113	0	0	0	4	4	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	7.757	0.704548	0.15172	.	.	ENSG00000074755	ENST00000381638	T	0.20881	2.04	5.66	-1.43	0.08884	.	0.616958	0.17746	N	0.163381	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	P;P	0.40376	0.715;0.592	B;B	0.37833	0.259;0.091	T	0.23868	-1.0176	10	0.41790	T	0.15	-0.3777	4.0199	0.09660	0.3054:0.0:0.3413:0.3533	.	1928;1928	O43149-2;O43149	.;ZZEF1_HUMAN	M	1928	ENSP00000371051:T1928M	ENSP00000371051:T1928M	T	-	2	0	ZZEF1	3900904	0.001000	0.12720	0.649000	0.29536	0.192000	0.23643	0.928000	0.28831	0.056000	0.16144	-0.140000	0.14226	ACG	.		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3954155	G	A	3954155	3	1	52	1	0	0	0	0	1	0	0	0	18303	1145	40	1	3182	1	ZZEF1	17	3954155	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10		3954155	77241055	509	11160											
ANKFY1	51479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	4071191	4071191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatttatggcaaagaagaCgtccgcagtgacgactgtgg	13	8	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:4071191C>T	ENST00000341657.4	-	25	3427	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H	ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1173H|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1132H|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1131					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						GCAAAGAAGACGTCCGCAGTG	0.488																																					p.R1173H		.											.	ANKFY1-93	0			c.G3518A						.						61	66	64					17																	4071191		1959	4147	6106	SO:0001583	missense	51479	exon25			AGAAGACGTCCGC	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.3392G>A	17.37:g.4071191C>T	ENSP00000343362:p.Arg1131His	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	49	5	NM_001257999	0	0	7	8	1	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	C	29.4	5.006134	0.93287	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79131	0.4394	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.998	T	0.81322	-0.0985	9	0.66056	D	0.02	-12.8532	17.2353	0.86997	0.0:1.0:0.0:0.0	.	1073;1131;1132;1173	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	H	1132;1073	.	ENSP00000343362:R1132H	R	-	2	0	ANKFY1	4017940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.627000	0.88993	0.563000	0.77884	CGT	.		0.488	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		T	4071191	C	T	4071191	3	4	52	1	0	0	0	0	1	0	0	0	626	536	19	1	121	1	ANKFY1	17	4071191	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	117036	4071191	77124019	510	11161											
SPNS3	201305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4348462	4348462	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagctccttcatctccccccGggtacgtgtccatgcccctg	8	18	2	0	rs141797761		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:4348462G>C	ENST00000355530.2	+	3	681	c.401G>C	c.(400-402)cGg>cCg	p.R134P	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	134					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ATCTCCCCCCGGGTACGTGTC	0.622																																					p.R134P		.											.	SPNS3-153	0			c.G401C						.						102	86	92					17																	4348462		2203	4300	6503	SO:0001630	splice_region_variant	201305	exon3			CCCCCCGGGTACG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.402+1G>C	17.37:g.4348462G>C		Somatic	176	1		WXS	Illumina GAIIx	Phase_I	93	83	NM_182538	0	0	0	0	0	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649096	0.29336	.	.	ENSG00000182557	ENST00000355530	T	0.56941	0.43	4.62	-5.8	0.02347	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.631687	0.16389	N	0.216540	T	0.30479	0.0766	N	0.14661	0.345	0.28902	N	0.893181	B	0.09022	0.002	B	0.12837	0.008	T	0.06534	-1.0821	10	0.45353	T	0.12	-1.8699	13.5659	0.61817	0.3067:0.0:0.6933:0.0	.	134	Q6ZMD2	SPNS3_HUMAN	P	134	ENSP00000347721:R134P	ENSP00000347721:R134P	R	+	2	0	SPNS3	4295211	0.000000	0.05858	0.021000	0.16686	0.011000	0.07611	-0.297000	0.08276	-1.040000	0.03271	-1.036000	0.02392	CGG	G|1.000;A|0.000		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	Missense_Mutation	C	4348462	G	C	4348462	5	2	52	1	0	0	0	0	0	0	1	0	15123	1130	39	2	411	2	SPNS3	17	4348462	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	277271	4348462	76846748	511	11162											
NLRP1	22861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	5436698	5436698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcaacatgggaagccGccctctctacagaaaaaaga	9	12	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:5436698G>A	ENST00000572272.1	-	10	3058	c.3059C>T	c.(3058-3060)gCg>gTg	p.A1020V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A990V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A1020V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.A990V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1020V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1020V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					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)				atgggaagccgccctctctac	0.532																																					p.A1020V		.											.	NLRP1-274	0			c.C3059T						.						54	50	51					17																	5436698		1327	2309	3636	SO:0001583	missense	22861	exon10			GAAGCCGCCCTCT	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.3059C>T	17.37:g.5436698G>A	ENSP00000460475:p.Ala1020Val	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	28	25	NM_014922	0	0	0	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	0.256	-1.003144	0.02128	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.71461	-0.57;-0.57;-0.55;-0.46;-0.55	0.707	-1.41	0.08941	.	.	.	.	.	T	0.46347	0.1388	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.22604	0.072;0.001;0.015;0.004;0.007;0.002	B;B;B;B;B;B	0.14578	0.011;0.0;0.011;0.001;0.008;0.001	T	0.19910	-1.0291	8	0.16420	T	0.52	.	.	.	.	.	286;990;990;1020;1020;1020	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	V	1020;1020;1020;990;1020;286	ENSP00000442029:A1020V;ENSP00000262467:A1020V;ENSP00000269280:A1020V;ENSP00000346390:A990V;ENSP00000324366:A1020V	ENSP00000262467:A1020V	A	-	2	0	NLRP1	5377422	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.106000	0.03008	-0.935000	0.02700	GCG	.		0.532	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5436698	G	A	5436698	3	1	52	1	0	0	0	0	1	0	0	0	10510	1087	38	1	1469	1	NLRP1	17	5436698	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1088236	5436698	75758512	512	11163											
KIAA0753	9851	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	6502594	6502594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcgctgtgtttactgacGagccatctttcaaatgaata	7	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:6502594G>A	ENST00000361413.3	-	14	2493	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	KIAA0753_ENST00000589033.1_Missense_Mutation_p.S168L|RNA5SP435_ENST00000364044.1_RNA|KIAA0753_ENST00000542606.1_Missense_Mutation_p.S413L|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Missense_Mutation_p.S413L	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	712						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTTTACTGACGAGCCATCTTT	0.363																																					p.S712L		.											.	KIAA0753-90	0			c.C2135T						.						97	94	95					17																	6502594		1959	4148	6107	SO:0001583	missense	9851	exon14			ACTGACGAGCCAT		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2135C>T	17.37:g.6502594G>A	ENSP00000355250:p.Ser712Leu	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	90	6	NM_014804	0	0	6	6	0	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065903	0.36470	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.11063	2.98;2.81	4.98	1.88	0.25563	.	0.660756	0.15743	N	0.246832	T	0.08044	0.0201	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	10	0.36615	T	0.2	-0.7242	7.7179	0.28715	0.2746:0.0:0.7254:0.0	.	712	Q2KHM9	K0753_HUMAN	L	712;413;168	ENSP00000355250:S712L;ENSP00000444634:S413L	ENSP00000355250:S712L	S	-	2	0	KIAA0753	6443318	0.004000	0.15560	0.002000	0.10522	0.012000	0.07955	0.442000	0.21628	0.358000	0.24211	-0.251000	0.11542	TCG	.		0.363	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		A	6502594	G	A	6502594	3	1	52	1	0	0	0	0	1	0	0	0	8218	1059	37	1	792	1	KIAA0753	17	6502594	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1065896	6502594	74692616	513	11164											
DVL2	1856	broad.mit.edu	37	chr17	7132483	7132483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcccctggctcaatgcGcccgtcggccgccacagccc	10	20	1	0	rs376743029		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:7132483G>A	ENST00000005340.5	-	8	1210	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DVL2_ENST00000575458.1_Missense_Mutation_p.R304C|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	310	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GGCTCAATGCGCCCGTCGGCC	0.637																																					p.R310C		.											.	DVL2-659	0			c.C928T						.	G	CYS/ARG	0,4406		0,0,2203	64	63	63		928	5.3	1	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DVL2	NM_004422.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	310/737	7132483	1,13005	2203	4300	6503	SO:0001583	missense	1856	exon8			CAATGCGCCCGTC	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.928C>T	17.37:g.7132483G>A	ENSP00000005340:p.Arg310Cys	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	88	4	NM_004422	0	0	7	7	0	D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337129	0.81801	0.0	1.16E-4	ENSG00000004975	ENST00000005340	T	0.20332	2.08	5.26	5.26	0.73747	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.66901	-0.5806	10	0.87932	D	0	-15.7215	11.453	0.50164	0.0:0.0:0.8201:0.1799	.	304;310	B4DLQ0;O14641	.;DVL2_HUMAN	C	310	ENSP00000005340:R310C	ENSP00000005340:R310C	R	-	1	0	DVL2	7073207	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	3.645000	0.54389	2.473000	0.83533	0.561000	0.74099	CGC	.		0.637	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		A	7132483	G	A	7132483	3	1	52	1	0	0	0	0	1	0	0	0	4850	1087	38	1	1314	1	DVL2	17	7132483	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	629889	7132483	74062727	514	11165											
NEURL4	84461	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	7224496	7224496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgtctgaactgggggAaggaggctgggtgccttctg	19	8	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:7224496A>G	ENST00000399464.2	-	20	3310	c.3295T>C	c.(3295-3297)Tcc>Ccc	p.S1099P	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1097P|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1075P	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1099						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						GAACTGGGGGAAGGAGGCTGG	0.612																																					p.S1099P		.											.	NEURL4-46	0			c.T3295C						.						62	67	65					17																	7224496		2185	4278	6463	SO:0001583	missense	84461	exon20			TGGGGGAAGGAGG		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.3295T>C	17.37:g.7224496A>G	ENSP00000382390:p.Ser1099Pro	Somatic	229	0		WXS	Illumina GAIIx	Phase_I	113	20	NM_032442	0	0	6	10	4	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049634	0.75846	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35789	1.29;1.29	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	L	0.55481	1.735	0.43852	D	0.996447	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.50874	-0.8776	10	0.40728	T	0.16	-18.9821	13.3494	0.60593	1.0:0.0:0.0:0.0	.	1097;1099	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	P	1097;1099	ENSP00000319826:S1097P;ENSP00000382390:S1099P	ENSP00000319826:S1097P	S	-	1	0	NEURL4	7165220	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.442000	0.80503	1.988000	0.58038	0.460000	0.39030	TCC	.		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		G	7224496	A	G	7224496	3	3	52	1	0	0	0	0	1	0	0	0	10386	246	9	4	1433	4	NEURL4	17	7224496	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	92013	7224496	73970714	515	11166											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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.R213X	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	c.C637T	GRCh37	CM951226	TP53	M		.						132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	exon6	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;	TATGTCGAAAAGT	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	132	112	NM_000546	0	0	0	1	1	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	52	1	0	0	0	0	0	1	0	0	16429	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	353716	7578212	73616998	516	11167											
KDM6B	23135	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	7752034	7752034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaaatccttggcctccGtgctggagggacaaaagtac	11	11	1	0	rs148573983		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:7752034G>A	ENST00000448097.2	+	11	2759	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	KDM6B_ENST00000254846.5_Missense_Mutation_p.V810M			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	810	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						CTTGGCCTCCGTGCTGGAGGG	0.652																																					p.V810M		.											.	KDM6B-205	0			c.G2428A						.	G	MET/VAL	0,4402		0,0,2201	45	49	47		2428	4.5	1	17	dbSNP_134	47	1,8599		0,1,4299	no	missense	KDM6B	NM_001080424.1	21	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	810/1683	7752034	1,13001	2201	4300	6501	SO:0001583	missense	23135	exon11			GCCTCCGTGCTGG	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.2428G>A	17.37:g.7752034G>A	ENSP00000412513:p.Val810Met	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	61	48	NM_001080424	0	0	0	3	3	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885698	0.33255	0.0	1.16E-4	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.12569	2.67;2.67	4.54	4.54	0.55810	.	0.305466	0.25830	N	0.028027	T	0.23492	0.0568	N	0.19112	0.55	0.39358	D	0.965878	D;D	0.89917	0.999;1.0	P;D	0.71414	0.862;0.973	T	0.09773	-1.0659	10	0.87932	D	0	-10.752	16.5716	0.84613	0.0:0.0:1.0:0.0	.	810;810	O15054;O15054-1	KDM6B_HUMAN;.	M	810	ENSP00000254846:V810M;ENSP00000412513:V810M	ENSP00000254846:V810M	V	+	1	0	KDM6B	7692759	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	5.214000	0.65236	2.526000	0.85167	0.462000	0.41574	GTG	G|1.000;A|0.000		0.652	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		A	7752034	G	A	7752034	3	1	52	1	0	0	0	0	1	0	0	0	8165	1145	40	1	2458	1	KDM6B	17	7752034	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	173822	7752034	73443176	517	11168											
MPRIP	23164	hgsc.bcm.edu;bcgsc.ca	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:17046886delC	ENST00000341712.4	+	9	1052	c.1052delC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395811.5_Frame_Shift_Del_p.A351fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					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						ACCAATGAAGCCCCCCCAGCT	0.652																																					p.A351fs		.											.	MPRIP-90	0			c.1052delC						.						54	48	50					17																	17046886		2202	4300	6502	SO:0001589	frameshift_variant	23164	exon9			ATGAAGCCCCCCC	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.1052delC	17.37:g.17046886delC	ENSP00000342379:p.Ala351fs	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	78	68	NM_015134	0	0	0	0	0	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Del	DEL	ENST00000341712.4	37	CCDS32578.1																																																																																			.		0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		-	17046886	C	-	17046886	7	5	52	1	0	1	0	1	0	0	0	0	9781	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	9294852	17046886	64148324	518	11169											
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18054476	18054476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggcaccggtccccctgCcaaacccgtgctcctgcgtg	11	17	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:18054476C>T	ENST00000205890.5	+	39	7864	c.7526C>T	c.(7525-7527)gCc>gTc	p.A2509V	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2509	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCCCCCTGCCAAACCCGTG	0.647																																					p.A2509V		.											.	MYO15A-97	0			c.C7526T						.						103	116	112					17																	18054476		2003	4162	6165	SO:0001583	missense	51168	exon38			CCCCTGCCAAACC	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.7526C>T	17.37:g.18054476C>T	ENSP00000205890:p.Ala2509Val	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	72	57	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906102	0.33628	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.25	4.28	0.50868	.	.	.	.	.	T	0.81992	0.4940	L	0.54323	1.7	0.80722	D	1	P	0.37015	0.578	B	0.33799	0.17	T	0.78465	-0.2193	9	0.23891	T	0.37	.	11.9545	0.52974	0.0:0.914:0.0:0.086	.	2509	Q9UKN7	MYO15_HUMAN	V	2509	ENSP00000205890:A2509V	ENSP00000205890:A2509V	A	+	2	0	MYO15A	17995201	0.998000	0.40836	0.834000	0.33040	0.085000	0.17905	1.503000	0.35715	1.342000	0.45619	0.655000	0.94253	GCC	.		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18054476	C	T	18054476	3	4	52	1	0	0	0	0	1	0	0	0	10101	739	26	3	7672	3	MYO15A	17	18054476	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1007590	18054476	63140734	519	11170											
FLII	2314	broad.mit.edu	37	chr17	18152474	18152474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtccccttgaggggcacaGgctccaacttgatgttcttt	11	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:18152474G>T	ENST00000327031.4	-	16	2126	c.1901C>A	c.(1900-1902)cCt>cAt	p.P634H	FLII_ENST00000545457.2_Missense_Mutation_p.P579H|FLII_ENST00000578558.1_Missense_Mutation_p.P633H|FLII_ENST00000579294.1_Missense_Mutation_p.P623H|FLII_ENST00000379450.4_Missense_Mutation_p.P548H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	634	Interaction with ACTL6A.				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)					GAGGGGCACAGGCTCCAACTT	0.587																																					p.P634H		.											.	FLII-91	0			c.C1901A						.						133	123	127					17																	18152474		2203	4300	6503	SO:0001583	missense	2314	exon16			GGCACAGGCTCCA	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.1901C>A	17.37:g.18152474G>T	ENSP00000324573:p.Pro634His	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	67	3	NM_002018	0	0	37	37	0	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320634	0.60634	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.63417	-0.04;-0.04	5.54	5.54	0.83059	Gelsolin domain (1);	0.156448	0.64402	D	0.000015	T	0.82153	0.4975	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.98;0.998;0.995	D;D;P;D;D	0.74023	0.951;0.951;0.785;0.982;0.924	D	0.84652	0.0701	10	0.87932	D	0	-9.0108	19.4761	0.94989	0.0:0.0:1.0:0.0	.	548;548;634;634;603	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	H	634;634;548	ENSP00000324573:P634H;ENSP00000368763:P548H	ENSP00000324573:P634H	P	-	2	0	FLII	18093199	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.388000	0.97237	2.618000	0.88619	0.462000	0.41574	CCT	.		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		T	18152474	G	T	18152474	3	4	52	1	0	0	0	0	1	0	0	0	5947	1000	35	3	1968	3	FLII	17	18152474	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	97998	18152474	63042736	520	11171											
SLC13A2	9058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26800779	26800779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcgctcctacctgatcGtgttcttcgtgcccattctc	6	16	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:26800779G>A	ENST00000314669.5	+	1	469	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	SLC13A2_ENST00000444914.3_Missense_Mutation_p.V17M|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V17M|SLC13A2_ENST00000537681.1_5'UTR	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	17					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTACCTGATCGTGTTCTTCGT	0.602																																					p.V17M		.											.	SLC13A2-90	0			c.G49A						.						108	75	86					17																	26800779		2203	4300	6503	SO:0001583	missense	9058	exon1			CTGATCGTGTTCT	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.49G>A	17.37:g.26800779G>A	ENSP00000316202:p.Val17Met	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	92	17	NM_001145975	0	0	0	0	0	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498081	0.04291	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060	T;T;T	0.70869	3.89;3.89;-0.52	4.86	1.52	0.23074	.	0.284999	0.37348	N	0.002124	T	0.72676	0.3490	L	0.58354	1.805	0.18873	N	0.999983	D;D;D	0.69078	0.997;0.996;0.989	P;P;P	0.58928	0.814;0.848;0.782	T	0.61505	-0.7049	10	0.62326	D	0.03	.	5.2264	0.15397	0.0965:0.0:0.543:0.3605	.	17;17;17	F5GWV6;E7ETH5;Q13183	.;.;S13A2_HUMAN	M	17	ENSP00000316202:V17M;ENSP00000392411:V17M;ENSP00000441935:V17M	ENSP00000316202:V17M	V	+	1	0	SLC13A2	23824906	0.026000	0.19158	0.009000	0.14445	0.154000	0.21943	1.133000	0.31430	0.744000	0.32741	-0.266000	0.10368	GTG	.		0.602	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		A	26800779	G	A	26800779	3	1	52	1	0	0	0	0	1	0	0	0	14437	1145	40	1	51	1	SLC13A2	17	26800779	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	8648305	26800779	54394431	521	11172											
SPAG5	10615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26919548	26919548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggaaggcaagaaggcGttactttcagaaggtactaa	12	6	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:26919548G>A	ENST00000321765.5	-	3	1046	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	238					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCAAGAAGGCGTTACTTTCAG	0.498																																					p.N238N		.											.	SPAG5-90	0			c.C714T						.						129	118	122					17																	26919548		2203	4300	6503	SO:0001819	synonymous_variant	10615	exon3			GAAGGCGTTACTT	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.714C>T	17.37:g.26919548G>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	71	58	NM_006461	0	0	0	6	6	O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	CCDS32594.1																																																																																			.		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26919548	G	A	26919548	2	1	52	1	0	0	0	0	0	0	0	1	15028	1136	40	1		1	SPAG5	17	26919548	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	118769	26919548	54275662	522	11173											
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	28405430	28405430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaggaattctgccaggCggaaatggctgcaccaaatc	12	10	2	1	rs376451950		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:28405430C>T	ENST00000394835.3	+	15	3127	c.2935C>T	c.(2935-2937)Cgg>Tgg	p.R979W	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R855W|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	979							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						TTCTGCCAGGCGGAAATGGCT	0.493													C|||	1	0.000199681	0	0	5008	,	,		18814	0		0	False		,,,				2504	0.001				p.R979W		.											.	EFCAB5-70	0			c.C2935T						.	C	TRP/ARG	0,3856		0,0,1928	83	83	83		2935	3.9	0.9	17		83	1,8259		0,1,4129	no	missense	EFCAB5	NM_198529.3	101	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	benign	979/1504	28405430	1,12115	1928	4130	6058	SO:0001583	missense	374786	exon15			GCCAGGCGGAAAT	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.2935C>T	17.37:g.28405430C>T	ENSP00000378312:p.Arg979Trp	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	171	147	NM_198529	0	0	0	0	0	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595220	0.46318	0.0	1.21E-4	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.16897	2.31;2.33;2.33	4.89	3.92	0.45320	GAF (1);	0.338736	0.19963	N	0.102163	T	0.10035	0.0246	N	0.25647	0.755	0.34743	D	0.730944	B;B	0.32939	0.2;0.391	B;B	0.24541	0.046;0.054	T	0.18241	-1.0343	10	0.59425	D	0.04	-3.9203	6.3165	0.21194	0.195:0.7095:0.0:0.0955	.	855;979	E7EVS9;A4FU69	.;EFCB5_HUMAN	W	979;855;661	ENSP00000378312:R979W;ENSP00000322003:R855W;ENSP00000417009:R661W	ENSP00000322003:R855W	R	+	1	2	EFCAB5	25429556	0.661000	0.27430	0.942000	0.38095	0.356000	0.29392	0.674000	0.25218	1.067000	0.40740	0.655000	0.94253	CGG	.		0.493	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		T	28405430	C	T	28405430	3	4	52	1	0	0	0	0	1	0	0	0	4952	759	27	1	3160	1	EFCAB5	17	28405430	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1485882	28405430	52789780	523	11174											
ATAD5	79915	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	29204542	29204542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacccagcagaaaaaatgCaacatctcttattctttttg	5	9	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:29204542C>T	ENST00000321990.4	+	16	4271	c.3893C>T	c.(3892-3894)gCa>gTa	p.A1298V		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1298					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)				AGAAAAAATGCAACATCTCTT	0.318																																					p.A1298V		.											.	ATAD5-93	0			c.C3893T						.						77	86	83					17																	29204542		2203	4298	6501	SO:0001583	missense	79915	exon16			AAAATGCAACATC		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.3893C>T	17.37:g.29204542C>T	ENSP00000313171:p.Ala1298Val	Somatic	170	2		WXS	Illumina GAIIx	Phase_I	89	71	NM_024857	0	0	0	0	0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060602	0.93846	.	.	ENSG00000176208	ENST00000321990	T	0.18016	2.24	4.94	4.94	0.65067	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.74258	2.255	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.40553	-0.9557	10	0.62326	D	0.03	.	17.5675	0.87924	0.0:1.0:0.0:0.0	.	1298	Q96QE3	ATAD5_HUMAN	V	1298	ENSP00000313171:A1298V	ENSP00000313171:A1298V	A	+	2	0	ATAD5	26228668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.587000	0.74071	2.463000	0.83235	0.306000	0.20318	GCA	.		0.318	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29204542	C	T	29204542	3	4	52	1	0	0	0	0	1	0	0	0	1077	710	25	3	3955	3	ATAD5	17	29204542	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	799112	29204542	51990668	524	11175											
RFFL	117584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33338994	33338994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgcaagctctcaggacCggaagacatgcacagctcgg	12	13	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:33338994C>T	ENST00000315249.7	-	7	1307	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	RFFL_ENST00000394597.2_Missense_Mutation_p.R362Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R362Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R354Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R326Q|RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000413582.2_Missense_Mutation_p.R354Q|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R271Q|RFFL_ENST00000268850.7_Missense_Mutation_p.R326Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R362Q					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTCAGGACCGGAAGACATG	0.547																																					p.R362Q		.											.	RFFL-90	0			c.G1085A						.						107	91	96					17																	33338994		2203	4300	6503	SO:0001583	missense	117584	exon7			CAGGACCGGAAGA	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.1085G>A	17.37:g.33338994C>T	ENSP00000326170:p.Arg362Gln	Somatic	152	1		WXS	Illumina GAIIx	Phase_I	129	25	NM_001017368	0	0	2	4	2		Missense_Mutation	SNP	ENST00000315249.7	37	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426604	0.96131	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.50001	0.76;0.76;0.76;0.79	5.64	5.64	0.86602	.	0.054516	0.64402	D	0.000002	T	0.55752	0.1940	L	0.27944	0.81	0.58432	D	0.999998	D;D;P	0.76494	0.999;0.999;0.948	D;P;B	0.77557	0.99;0.856;0.325	T	0.56872	-0.7907	10	0.72032	D	0.01	-14.5217	14.1102	0.65118	0.0:0.9266:0.0:0.0734	.	326;362;354	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	Q	362;362;354;326	ENSP00000326170:R362Q;ENSP00000378096:R362Q;ENSP00000367777:R354Q;ENSP00000268850:R326Q	ENSP00000268850:R326Q	R	-	2	0	RFFL	30363107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.123000	0.50453	2.937000	0.99478	0.650000	0.86243	CGG	.		0.547	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		T	33338994	C	T	33338994	3	4	52	1	0	0	0	0	1	0	0	0	13295	652	23	1	10	1	RFFL	17	33338994	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4134452	33338994	47856216	525	11176											
ACACA	31	bcgsc.ca	37	chr17	35581989	35581989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagactctacttggttatggCgaagctcatatgatggcaaa	10	7	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:35581989C>T	ENST00000394406.2	-	27	3477	c.3287G>A	c.(3286-3288)cGc>cAc	p.R1096H	ACACA_ENST00000335166.5_Missense_Mutation_p.R1018H|ACACA_ENST00000353139.5_Missense_Mutation_p.R1133H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1038H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1096					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1038H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGGTTATGGCGAAGCTCATA	0.368																																					p.R1133H	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA-154	1	Substitution - Missense(1)	large_intestine(1)	c.G3398A						.						106	97	100					17																	35581989		2203	4300	6503	SO:0001583	missense	31	exon27			TTATGGCGAAGCT	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3287G>A	17.37:g.35581989C>T	ENSP00000377928:p.Arg1096His	Somatic	283	2		WXS	Illumina GAIIx	Phase_I	218	6	NM_198834	0	0	0	0	0	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678160	0.88542	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.95	5.95	0.96441	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.986;0.999;1.0	D;D;D	0.73380	0.919;0.973;0.98	D	0.94193	0.7443	10	0.87932	D	0	-2.0597	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1133;1096;1038	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	1133;1038;1096;1120;1018	ENSP00000344789:R1133H;ENSP00000353898:R1038H;ENSP00000377928:R1096H;ENSP00000335323:R1018H	ENSP00000335323:R1018H	R	-	2	0	ACACA	32656102	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.770000	0.85390	2.824000	0.97209	0.655000	0.94253	CGC	.		0.368	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35581989	C	T	35581989	3	4	52	1	0	0	0	0	1	0	0	0	106	768	27	1	3873	1	ACACA	17	35581989	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2242995	35581989	45613221	526	11177											
GSDMA	284110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38130530	38130530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattgtccccataggggaCgtacacgaaggcttcaggac	11	10	1	0	rs565172157		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:38130530C>T	ENST00000301659.4	+	9	874	c.756C>T	c.(754-756)gaC>gaT	p.D252D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	252				DV -> EM (in Ref. 2; AAL14426). {ECO:0000305}.	apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCATAGGGGACGTACACGAAG	0.562													C|||	1	0.000199681	0	0	5008	,	,		17337	0		0	False		,,,				2504	0.001				p.D252D		.											.	GSDMA-90	0			c.C756T						.						38	36	37					17																	38130530		1917	4128	6045	SO:0001819	synonymous_variant	284110	exon9			AGGGGACGTACAC	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.756C>T	17.37:g.38130530C>T		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	76	61	NM_178171	0	0	0	0	0	Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	CCDS45669.1																																																																																			.		0.562	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		T	38130530	C	T	38130530	2	4	52	1	0	0	0	0	0	0	0	1	6843	535	19	1		1	GSDMA	17	38130530	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2548541	38130530	43064680	527	11178											
TNS4	84951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38633890	38633890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccaggccgatgacctGcgaggctggctggaccatgt	14	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:38633890G>T	ENST00000254051.6	-	13	2256	c.2098C>A	c.(2098-2100)Cag>Aag	p.Q700K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	700	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCGATGACCTGCGAGGCTGGC	0.592																																					p.Q700K		.											.	TNS4-155	0			c.C2098A						.						125	99	108					17																	38633890		2203	4300	6503	SO:0001583	missense	84951	exon13			TGACCTGCGAGGC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.2098C>A	17.37:g.38633890G>T	ENSP00000254051:p.Gln700Lys	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	95	79	NM_032865	0	0	0	0	0	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200330	0.09652	.	.	ENSG00000131746	ENST00000377816;ENST00000394072;ENST00000254051	T	0.28666	1.6	5.27	4.29	0.51040	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.607849	0.14805	N	0.297383	T	0.22859	0.0552	N	0.19112	0.55	0.29702	N	0.840116	B;B	0.24823	0.0;0.112	B;B	0.23419	0.001;0.046	T	0.10847	-1.0612	10	0.35671	T	0.21	-2.5067	15.0178	0.71600	0.0:0.0:0.8565:0.1435	.	700;113	Q8IZW8;F2Z318	TENS4_HUMAN;.	K	700;113;700	ENSP00000254051:Q700K	ENSP00000254051:Q700K	Q	-	1	0	TNS4	35887416	0.929000	0.31497	0.811000	0.32455	0.939000	0.58152	5.478000	0.66806	1.230000	0.43646	-0.268000	0.10319	CAG	.		0.592	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38633890	G	T	38633890	3	4	52	1	0	0	0	0	1	0	0	0	16392	1328	46	3	53	3	TNS4	17	38633890	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	503360	38633890	42561320	528	11179											
KRT33B	3884	broad.mit.edu	37	chr17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagcgtccacctccaCgttgaggcggtctccaagct	13	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522																																					p.V211M		.											.	KRT33B-90	0			c.G631A						.						62	61	61					17																	39521763		2191	4300	6491	SO:0001583	missense	3884	exon4			CCTCCACGTTGAG	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.631G>A	17.37:g.39521763C>T	ENSP00000251646:p.Val211Met	Somatic	224	0		WXS	Illumina GAIIx	Phase_I	124	5	NM_002279	0	0	0	0	0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.641356	0.87859	.	.	ENSG00000131738	ENST00000251646	D	0.92299	-3.01	4.51	4.51	0.55191	Filament (1);	0.119655	0.38436	N	0.001685	D	0.95921	0.8672	M	0.84082	2.675	0.46203	D	0.998927	D	0.76494	0.999	D	0.67231	0.95	D	0.96541	0.9400	10	0.87932	D	0	.	16.7327	0.85439	0.0:1.0:0.0:0.0	.	211	Q14525	KT33B_HUMAN	M	211	ENSP00000251646:V211M	ENSP00000251646:V211M	V	-	1	0	KRT33B	36775289	0.994000	0.37717	1.000000	0.80357	0.888000	0.51559	3.159000	0.50731	2.474000	0.83562	0.650000	0.86243	GTG	.		0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		T	39521763	C	T	39521763	3	4	52	1	0	0	0	0	1	0	0	0	8497	536	19	1	599	1	KRT33B	17	39521763	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	887873	39521763	41673447	529	11180											
MLX	6945	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	40720854	40720856	+	Splice_Site	DEL	GAT	GAT	-													tgcccccatctctgagcgtaGatgatgaggacagtgattac							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	GAT	GAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:40720854_40720856delGAT	ENST00000246912.4	+	4	384_386	c.331_333delGAT	c.(331-333)gatdel	p.D112del	MLX_ENST00000346833.4_Splice_Site_p.D28del|MLX_ENST00000435881.2_Splice_Site_p.D58del	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	112					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCTGAGCGTAGATGATGAGGACA	0.606																																					p.111_111del	GBM(121;657 1601 4665 24731 34640)	.											.	MLX-90	0			c.332_333del						.																																			SO:0001630	splice_region_variant	6945	exon4			AGCGTAGATGATG	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.332-1GAT>-	17.37:g.40720857_40720859delGAT		Somatic	304	0		WXS	Illumina GAIIx	Phase_I	165	131	NM_170607	0	0	0	0	0	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Frame_Shift_Del	DEL	ENST00000246912.4	37	CCDS11430.1																																																																																			.		0.606	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607	In_Frame_Del	-	40720856	GAT	-	40720854	8	5	52	1	0	1	0	1	0	0	1	0	9673	956	33	0	345	0	MLX	17	40720854	Splice_Site	DEL	GAT	TCGA-OR-A5LJ-01A-11D-A29I-10	1199091	40720854	40474356	530	11181											
WNT3	7473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	44846089	44846089	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggaagtcaggctgcgccCaccagcaggtcttcacctca	10	16	4	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:44846089C>T	ENST00000225512.5	-	4	827	c.665G>A	c.(664-666)tGg>tAg	p.W222*		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	222					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|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 fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	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)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGCTGCGCCCACCAGCAGGT	0.602																																					p.Q222Q		.											.	WNT3-522	0			c.A665A						.						83	85	85					17																	44846089		2203	4300	6503	SO:0001587	stop_gained	7473	exon4			TGCGCCCACCAGC	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.665G>A	17.37:g.44846089C>T	ENSP00000225512:p.Trp222*	Somatic	201	1		WXS	Illumina GAIIx	Phase_I	137	99	NM_030753	0	0	0	11	11	Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	37	6.124041	0.97305	.	.	ENSG00000108379	ENST00000225512	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.8438	0.92196	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000225512:W222X	W	-	2	0	WNT3	42201258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.676000	0.91093	0.561000	0.74099	TGG	.		0.602	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		T	44846089	C	T	44846089	4	4	52	1	0	0	0	0	0	1	0	0	17437	595	21	3	406	3	WNT3	17	44846089	Nonsense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4125235	44846089	36349121	531	11182											
BZRAP1	9256	broad.mit.edu	37	chr17	56388998	56388998	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggatgtgccagcagcatcGatggtgactgggagccaact	14	9	0	1	rs561022287	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:56388998G>T	ENST00000343736.4	-	18	3178	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	BZRAP1_ENST00000355701.3_Silent_p.I1005I|BZRAP1_ENST00000268893.6_Silent_p.I945I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1005	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAGCATCGATGGTGACTG	0.632																																					p.I1005I		.											.	BZRAP1-229	0			c.C3015A						.						79	69	72					17																	56388998		2203	4300	6503	SO:0001819	synonymous_variant	9256	exon18			AGCATCGATGGTG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3015C>A	17.37:g.56388998G>T		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	154	5	NM_004758	0	0	1	2	1	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																			.		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		T	56388998	G	T	56388998	2	4	52	1	0	0	0	0	0	0	0	1	1581	1048	37	2		2	BZRAP1	17	56388998	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	11542909	56388998	24806212	532	11183											
CLTC	1213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	57754463	57754463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctactatgacagtcgcGttgttggaaagtattgtgag	11	7	0	2	rs371208527		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:57754463G>A	ENST00000269122.3	+	17	2984	c.2710G>A	c.(2710-2712)Gtt>Att	p.V904I	CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.V904I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	904	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGACAGTCGCGTTGTTGGAAA	0.433			T	"ALK, TFE3"	"ALCL, renal "																																p.V904I		.		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	.	CLTC-835	0			c.G2710A						.	G	ILE/VAL	0,4406		0,0,2203	119	118	118		2710	5.7	1	17		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLTC	NM_004859.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	904/1676	57754463	1,13005	2203	4300	6503	SO:0001583	missense	1213	exon17			AGTCGCGTTGTTG	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2710G>A	17.37:g.57754463G>A	ENSP00000269122:p.Val904Ile	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	110	89	NM_004859	0	0	1	19	18	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182552	0.78677	0.0	1.16E-4	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.19532	2.14;2.14	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.76574	2.34	0.80722	D	1	B;B	0.25048	0.117;0.072	B;B	0.27380	0.064;0.079	T	0.05818	-1.0862	10	0.44086	T	0.13	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	904;904	Q00610;Q00610-2	CLH1_HUMAN;.	I	904	ENSP00000269122:V904I;ENSP00000376763:V904I	ENSP00000269122:V904I	V	+	1	0	CLTC	55109245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.751000	0.98889	2.685000	0.91497	0.557000	0.71058	GTT	.		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		A	57754463	G	A	57754463	3	1	52	1	0	0	0	0	1	0	0	0	3573	1145	40	1	2776	1	CLTC	17	57754463	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1365465	57754463	23440747	533	11184											
KCNH6	81033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	61621675	61621675	+	Frame_Shift_Del	DEL	C	C	-													ctgagctactgcaggaaatgCccccaaggcacagcccccaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:61621675delC	ENST00000583023.1	+	12	2418	c.2407delC	c.(2407-2409)cccfs	p.P804fs	KCNH6_ENST00000314672.5_Frame_Shift_Del_p.P768fs|KCNH6_ENST00000456941.2_Frame_Shift_Del_p.P715fs|KCNH6_ENST00000581784.1_Frame_Shift_Del_p.P715fs	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	804					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCAGGAAATGCCCCCAAGGCA	0.612																																					p.P803fs		.											.	KCNH6-91	0			c.2407delC						.						41	45	43					17																	61621675		2203	4300	6503	SO:0001589	frameshift_variant	81033	exon12			GAAATGCCCCCAA	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2407delC	17.37:g.61621675delC	ENSP00000463533:p.Pro804fs	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	65	49	NM_030779	0	0	0	0	0	Q9BRD7	Frame_Shift_Del	DEL	ENST00000583023.1	37	CCDS11638.1																																																																																			.		0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		-	61621675	C	-	61621675	7	5	52	1	0	1	0	1	0	0	0	0	8063	739	26	0	2453	0	KCNH6	17	61621675	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3867212	61621675	19573535	534	11185											
DDX42	11325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	61895428	61895428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactggcaatcggcatagCgatagtccacgtcacggaga	13	10	1	2	rs145932119		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:61895428C>T	ENST00000578681.1	+	19	3088	c.2487C>T	c.(2485-2487)agC>agT	p.S829S	DDX42_ENST00000457800.2_Silent_p.S829S|DDX42_ENST00000583590.1_Silent_p.S829S|DDX42_ENST00000359353.5_Silent_p.S710S|DDX42_ENST00000389924.2_Silent_p.S829S|DDX42_ENST00000582985.1_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	829	Gly-rich.|His-rich.|Necessary for interaction with TP53BP2.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATCGGCATAGCGATAGTCCAC	0.587																																					p.S829S		.											.	DDX42-230	0			c.C2487T						.	C	,	0,4406		0,0,2203	59	56	57		2487,2487	-9.6	0.2	17	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DDX42	NM_007372.2,NM_203499.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	829/939,829/939	61895428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11325	exon18			GCATAGCGATAGT	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2487C>T	17.37:g.61895428C>T		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	80	9	NM_203499	0	0	43	44	1	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	CCDS32704.1																																																																																			C|1.000;T|0.000		0.587	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		T	61895428	C	T	61895428	2	4	52	1	0	0	0	0	0	0	0	1	4371	767	27	1		1	DDX42	17	61895428	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	273753	61895428	19299782	535	11186											
TEX2	55852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	62271012	62271012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccattcctctttttctcGgccagttctcccaaagagat	5	13	3	1	rs369050753	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:62271012G>A	ENST00000583097.1	-	4	2255	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	TEX2_ENST00000258991.3_Nonsense_Mutation_p.R695*|TEX2_ENST00000584379.1_Nonsense_Mutation_p.R695*			Q8IWB9	TEX2_HUMAN	testis expressed 2	695					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)		TCTTTTTCTCGGCCAGTTCTC	0.483																																					p.R695X		.											.	TEX2-91	0			c.C2083T						.						144	141	142					17																	62271012		2203	4300	6503	SO:0001587	stop_gained	55852	exon4			TTTCTCGGCCAGT	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.2083C>T	17.37:g.62271012G>A	ENSP00000462665:p.Arg695*	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	115	96	NM_018469	0	0	0	0	0	Q6AHZ5|Q8N3L0|Q9C0C5	Nonsense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	G	41	8.681300	0.98912	.	.	ENSG00000136478	ENST00000258991	.	.	.	5.78	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4584	13.2419	0.60002	0.0:0.0:0.5698:0.4302	.	.	.	.	X	695	.	ENSP00000258991:R695X	R	-	1	2	TEX2	59624744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.477000	0.45180	1.425000	0.47237	0.650000	0.86243	CGA	.		0.483	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62271012	G	A	62271012	4	1	52	1	0	0	0	0	0	1	0	0	15828	1124	39	1	1357	1	TEX2	17	62271012	Nonsense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	375584	62271012	18924198	536	11187											
ARSG	22901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	66391298	66391298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatggtgtggacgtctcCgaggtgctctttggccggtc	15	9	2	1	rs536459923		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:66391298C>T	ENST00000448504.2	+	10	1972	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	ARSG_ENST00000452479.2_Silent_p.S228S|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	392					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACGTCTCCGAGGTGCTCT	0.582													C|||	1	0.000199681	0	0	5008	,	,		20367	0		0	False		,,,				2504	0.001				p.S392S		.											.	ARSG-91	0			c.C1176T						.						144	114	124					17																	66391298		2203	4300	6503	SO:0001819	synonymous_variant	22901	exon10			CGTCTCCGAGGTG	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1176C>T	17.37:g.66391298C>T		Somatic	168	0		WXS	Illumina GAIIx	Phase_I	104	83	NM_001267727	0	0	1	2	1	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																			.		0.582	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		T	66391298	C	T	66391298	2	4	52	1	0	0	0	0	0	0	0	1	993	639	23	1		1	ARSG	17	66391298	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4120286	66391298	14803912	537	11188											
ABCA9	10350	bcgsc.ca	37	chr17	67028260	67028260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggttacctgatggcttcTttcccacagaattctggaga	9	9	2	3	rs2302291	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:67028260T>C	ENST00000340001.4	-	10	1645	c.1434A>G	c.(1432-1434)aaA>aaG	p.K478K	ABCA9_ENST00000370732.2_Silent_p.K478K|ABCA9_ENST00000453985.2_Silent_p.K478K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	478					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K478K(1)		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)					TGATGGCTTCTTTCCCACAGA	0.458													T|||	2038	0.406949	0.093	0.5591	5008	,	,		20125	0.2659		0.662	False		,,,				2504	0.6063				p.K478K		.											.	ABCA9-95	1	Substitution - coding silent(1)	stomach(1)	c.A1434G						.	T		848,3558	333.3+/-302.9	94,660,1449	82	75	78		1434	3.8	1	17	dbSNP_100	78	5924,2676	683.7+/-403.9	2031,1862,407	no	coding-synonymous	ABCA9	NM_080283.3		2125,2522,1856	CC,CT,TT		31.1163,19.2465,47.9317		478/1625	67028260	6772,6234	2203	4300	6503	SO:0001819	synonymous_variant	10350	exon10			GGCTTCTTTCCCA	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.1434A>G	17.37:g.67028260T>C		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	84	6	NM_080283	0	0	0	0	0	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																			T|0.542;C|0.458		0.458	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		C	67028260	T	C	67028260	2	2	52	1	0	0	0	0	0	0	0	1	39	1606	56	4		4	ABCA9	17	67028260	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	636962	67028260	14166950	538	11189											
ABCA6	23460	hgsc.bcm.edu;bcgsc.ca	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					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)					TAAGCCATATAAAAAAAAGAG	0.308																																					p.L306fs		.											.	ABCA6-159	0			c.917delT						.						75	81	79					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	23460	exon7			CCATATAAAAAAA	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.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs	Somatic	202	1		WXS	Illumina GAIIx	Phase_I	180	144	NM_080284	0	0	0	0	0	Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	ENST00000284425.2	37	CCDS11683.1																																																																																			.		0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		-	67125767	A	-	67125767	7	5	52	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	97507	67125767	14069443	539	11190											
GRIN2C	2905	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	72838754	72838754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggagagccaggagccGtggctggcacagggtggaag	19	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:72838754G>A	ENST00000293190.5	-	13	3668	c.3522C>T	c.(3520-3522)caC>caT	p.H1174H		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1174					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCAGGAGCCGTGGCTGGCAC	0.687																																					p.H1174H		.											.	GRIN2C-228	0			c.C3522T						.						8	11	10					17																	72838754		2138	4206	6344	SO:0001819	synonymous_variant	2905	exon13			GGAGCCGTGGCTG		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3522C>T	17.37:g.72838754G>A		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	90	22	NM_000835	0	0	7	11	4	B2RTT1	Silent	SNP	ENST00000293190.5	37	CCDS32724.1																																																																																			.		0.687	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72838754	G	A	72838754	2	1	52	1	0	0	0	0	0	0	0	1	6808	1136	40	1		1	GRIN2C	17	72838754	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5712987	72838754	8356456	540	11191											
TRIM65	201292	broad.mit.edu	37	chr17	73888574	73888574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaggccaagatgcagGccgagttctgggcgggaaca	16	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:73888574G>T	ENST00000269383.3	-	3	583	c.518C>A	c.(517-519)gCc>gAc	p.A173D		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	173						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A173D(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAAGATGCAGGCCGAGTTCTG	0.647																																					p.A173D		.											.	TRIM65-90	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C518A						.						29	32	31					17																	73888574		2202	4299	6501	SO:0001583	missense	201292	exon3			ATGCAGGCCGAGT	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.518C>A	17.37:g.73888574G>T	ENSP00000269383:p.Ala173Asp	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	55	5	NM_001256124	0	0	3	3	0	Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.860568|1.860568	0.32884|0.32884	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.61040|.	0.14|.	4.13|4.13	3.16|3.16	0.36331|0.36331	.|.	0.000000|.	0.46145|.	D|.	0.000301|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.87932|.	D|.	0|.	.|.	9.6999|9.6999	0.40180|0.40180	0.1032:0.0:0.8968:0.0|0.1032:0.0:0.8968:0.0	.|.	173|.	Q6PJ69|.	TRI65_HUMAN|.	D|T	173|47	ENSP00000269383:A173D|.	ENSP00000269383:A173D|.	A|P	-|-	2|1	0|0	TRIM65|TRIM65	71400169|71400169	0.016000|0.016000	0.18221|0.18221	0.752000|0.752000	0.31206|0.31206	0.065000|0.065000	0.16274|0.16274	1.007000|1.007000	0.29860|0.29860	0.961000|0.961000	0.38030|0.38030	0.462000|0.462000	0.41574|0.41574	GCC|CCT	.		0.647	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		T	73888574	G	T	73888574	3	4	52	1	0	0	0	0	1	0	0	0	16587	1203	42	3	1051	3	TRIM65	17	73888574	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1049820	73888574	7306636	541	11192											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76424720	76424720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaaagccaatctctgcGttggggtgcaggccatacag	13	10	2	1	rs375394275		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:76424720G>A	ENST00000585328.1	-	77	12583	c.12459C>T	c.(12457-12459)aaC>aaT	p.N4153N	DNAH17_ENST00000389840.5_Silent_p.N4152N|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4152					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)			CAATCTCTGCGTTGGGGTGCA	0.552																																					p.N4158N		.											.	DNAH17-142	0			c.C12474T						.	G		0,4406		0,0,2203	106	92	97		12474	-4.6	0.9	17		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH17	NM_173628.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		4158/4463	76424720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8632	exon77			CTCTGCGTTGGGG	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.12459C>T	17.37:g.76424720G>A		Somatic	226	0		WXS	Illumina GAIIx	Phase_I	122	34	NM_173628	0	0	1	1	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																				.		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76424720	G	A	76424720	2	1	52	1	0	0	0	0	0	0	0	1	4615	1136	40	1		1	DNAH17	17	76424720	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2536146	76424720	4770490	542	11193											
SGSH	6448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	78188920	78188920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtcctggtgcagcccGtacatcccattctgatgctg	10	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:78188920G>A	ENST00000326317.6	-	3	353	c.267C>T	c.(265-267)taC>taT	p.Y89Y	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Missense_Mutation_p.T101M|SGSH_ENST00000534910.1_Intron	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	89					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTGCAGCCCGTACATCCCAT	0.667																																					p.Y89Y		.											.	SGSH-91	0			c.C267T						.						77	62	67					17																	78188920		2200	4300	6500	SO:0001819	synonymous_variant	6448	exon3			CAGCCCGTACATC	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.267C>T	17.37:g.78188920G>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	52	48	NM_000199	0	0	1	9	8	A8K5E2	Silent	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649096	0.47362	.	.	ENSG00000181523	ENST00000535808	.	.	.	3.82	-0.863	0.10669	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	P	0.46859	0.885	B	0.31290	0.127	T	0.09818	-1.0657	7	0.27785	T	0.31	-19.3966	8.655	0.34058	0.5577:0.0:0.4423:0.0	.	101	B7Z9A6	.	M	101	.	ENSP00000443457:T101M	T	-	2	0	SGSH	75803515	0.675000	0.27558	0.996000	0.52242	0.892000	0.51952	-0.209000	0.09358	-0.006000	0.14370	0.563000	0.77884	ACG	.		0.667	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		A	78188920	G	A	78188920	2	1	52	1	0	0	0	0	0	0	0	1	14266	1140	40	1		1	SGSH	17	78188920	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1764200	78188920	3006290	543	11194											
BAHCC1	57597	bcgsc.ca	37	chr17	79424537	79424537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggccagtgtggccgtgCtggggccctcaccctcctct	14	17	2	0	rs34224936	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:79424537C>T	ENST00000307745.7	+	21	4960	c.4960C>T	c.(4960-4962)Ctg>Ttg	p.L1654L																								TGTGGCCGTGCTGGGGCCCTC	0.632													C|||	1526	0.304712	0.2821	0.4222	5008	,	,		13963	0.1438		0.3807	False		,,,				2504	0.3395				.		.											.	BAHCC1-23	0			.						.	C		1245,2881		195,855,1013	17	24	21		4789	3.9	1	17	dbSNP_126	21	3100,5308		559,1982,1663	no	coding-synonymous	BAHCC1	NM_001080519.2		754,2837,2676	TT,TC,CC		36.8696,30.1745,34.6657		1597/2552	79424537	4345,8189	2063	4204	6267	SO:0001819	synonymous_variant	57597	.			GCCGTGCTGGGGC																												ENST00000307745.7:c.4960C>T	17.37:g.79424537C>T		Somatic	122	1		WXS	Illumina GAIIx	Phase_I	61	5	.	0	0	0	0	0		Silent	SNP	ENST00000307745.7	37																																																																																				C|0.696;T|0.304		0.632	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79424537	C	T	79424537	2	4	52	1	0	0	0	0	0	0	0	1	1297	796	28	3		3	BAHCC1	17	79424537	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1235617	79424537	1770673	544	11195											
BAHCC1	57597	broad.mit.edu;bcgsc.ca	37	chr17	79424588	79424590	+	In_Frame_Del	DEL	AAG	AAG	-													tggaggccaaccagaaggccAagaagaagaaggagaggcag					rs372057166	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr17:79424588_79424590delAAG	ENST00000307745.7	+	21	5011_5013	c.5011_5013delAAG	c.(5011-5013)aagdel	p.K1674del																								CCAGAAGGCCAAGAAGAAGAAGG	0.621																																					.		.											.	BAHCC1-23	0			.						.																																			SO:0001651	inframe_deletion	57597	.			AAGGCCAAGAAGA																												ENST00000307745.7:c.5011_5013delAAG	17.37:g.79424597_79424599delAAG	ENSP00000303486:p.Lys1674del	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	55	8	.	0	0	0	0	0		In_Frame_Del	DEL	ENST00000307745.7	37																																																																																				.		0.621	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				-	79424590	AAG	-	79424588	7	5	52	1	0	1	0	1	0	0	0	0	1297	131	5	0	4908	0	BAHCC1	17	79424588	In_Frame_Del	DEL	AAG	TCGA-OR-A5LJ-01A-11D-A29I-10	51	79424588	1770622	545	11196											
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	6997824	6997824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggttcagagaaagaaCggcatcaccaatctcatcca	9	10	3	3	rs150510890		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:6997824C>T	ENST00000389658.3	-	33	4816	c.4723G>A	c.(4723-4725)Gtt>Att	p.V1575I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1575	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)				AGAGAAAGAACGGCATCACCA	0.398																																					p.V1575I		.											.	LAMA1-149	0			c.G4723A						.	T	ILE/VAL	0,4406		0,0,2203	212	193	199		4723	1.6	0	18	dbSNP_134	199	1,8599	819.2+/-406.8	0,1,4299	no	missense	LAMA1	NM_005559.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1575/3076	6997824	1,13005	2203	4300	6503	SO:0001583	missense	284217	exon33			AAAGAACGGCATC	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.4723G>A	18.37:g.6997824C>T	ENSP00000374309:p.Val1575Ile	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	110	34	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.277503	0.00254	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.12147	2.71	5.36	1.58	0.23477	Laminin I (1);	0.472608	0.23332	N	0.049326	T	0.03053	0.0090	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	10	0.10377	T	0.69	.	5.9579	0.19283	0.0:0.2809:0.1267:0.5924	.	1575	P25391	LAMA1_HUMAN	I	1575	ENSP00000374309:V1575I	ENSP00000374309:V1575I	V	-	1	0	LAMA1	6987824	0.017000	0.18338	0.000000	0.03702	0.018000	0.09664	0.098000	0.15189	-0.122000	0.11766	-0.982000	0.02568	GTT	C|1.000;T|0.000		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6997824	C	T	6997824	3	4	52	1	0	0	0	0	1	0	0	0	8633	536	19	1	4628	1	LAMA1	18	6997824	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		6997824	71079424	546	11197											
FAM38B	63895	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	10672692	10672692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgagtccttacccataGccagccaggaaccccagact	7	15	1	2	rs146400447		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:10672692G>A	ENST00000503781.3	-	51	8000	c.8001C>T	c.(7999-8001)ggC>ggT	p.G2667G	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.G2692G|PIEZO2_ENST00000285141.4_Silent_p.G459G|PIEZO2_ENST00000302079.6_Silent_p.G2604G|PIEZO2_ENST00000538948.1_Silent_p.G624G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2667					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)										CTTACCCATAGCCAGCCAGGA	0.448													G|||	1	0.000199681	0	0	5008	,	,		18529	0		0.001	False		,,,				2504	0				p.G2667G		.											.	.	0			c.C8001T						.	G		2,4404	4.2+/-10.8	0,2,2201	104	99	101		8001	4	1	18	dbSNP_134	101	23,8577	16.0+/-53.3	0,23,4277	no	coding-synonymous	PIEZO2	NM_022068.2		0,25,6478	AA,AG,GG		0.2674,0.0454,0.1922		2667/2753	10672692	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	63895	exon51			CCCATAGCCAGCC	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.8001C>T	18.37:g.10672692G>A		Somatic	78	1		WXS	Illumina GAIIx	Phase_I	53	16	NM_022068	0	0	0	0	0	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37																																																																																				G|0.998;A|0.002		0.448	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		A	10672692	G	A	10672692	2	1	52	1	0	0	0	0	0	0	0	1	5577	958	34	3		3	FAM38B	18	10672692	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3674868	10672692	67404556	547	11198											
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	25582999	25582999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccactgtgatgatgtcacCagtctcattgttgattgtaa	9	8	2	3	rs202045628		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:25582999C>A	ENST00000269141.3	-	7	1405	c.982G>T	c.(982-984)Ggt>Tgt	p.G328C	CDH2_ENST00000399380.3_Missense_Mutation_p.G297C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	328	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGATGTCACCAGTCTCATTG	0.428																																					p.G328C		.											.	CDH2-525	0			c.G982T						.						248	206	220					18																	25582999		2203	4300	6503	SO:0001583	missense	1000	exon7			TGTCACCAGTCTC	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.982G>T	18.37:g.25582999C>A	ENSP00000269141:p.Gly328Cys	Somatic	271	1		WXS	Illumina GAIIx	Phase_I	173	145	NM_001792	0	0	0	5	5	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075455	0.94000	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	D;D	0.91464	-2.85;-2.85	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97489	1.0052	10	0.87932	D	0	.	19.9902	0.97362	0.0:1.0:0.0:0.0	.	297;328	A8MWK3;P19022	.;CADH2_HUMAN	C	328;297	ENSP00000269141:G328C;ENSP00000382312:G297C	ENSP00000269141:G328C	G	-	1	0	CDH2	23836997	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	7.815000	0.86186	2.724000	0.93272	0.563000	0.77884	GGT	.		0.428	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		A	25582999	C	A	25582999	3	1	52	1	0	0	0	0	1	0	0	0	3112	594	21	3	1778	3	CDH2	18	25582999	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14910307	25582999	52494249	548	11199											
C18orf34	374864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	30672841	30672841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatactcttgagctaaacGcagattttcttcaagtgaat	7	7	3	4	rs148945908		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:30672841G>A	ENST00000383096.3	-	21	2454	c.2272C>T	c.(2272-2274)Cgt>Tgt	p.R758C	CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R758C|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.R720C|CCDC178_ENST00000406524.2_Missense_Mutation_p.R758C|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.R758C|CCDC178_ENST00000579947.1_Missense_Mutation_p.R758C			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	758																	TGAGCTAAACGCAGATTTTCT	0.259																																					p.R758C		.											.	.	0			c.C2272T						.	G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	41	43	42		2272,2158	5	0.9	18	dbSNP_134	42	1,8557	1.2+/-3.3	0,1,4278	no	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	180,180	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	758/868,720/830	30672841	1,12959	2201	4279	6480	SO:0001583	missense	374864	exon20			CTAAACGCAGATT	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.2272C>T	18.37:g.30672841G>A	ENSP00000372576:p.Arg758Cys	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	43	33	NM_001105528	0	0	0	0	0	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765154	0.15914	0.0	1.17E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524	T;T;T;T	0.17054	2.32;2.32;2.34;2.3	5.84	4.96	0.65561	.	.	.	.	.	T	0.31888	0.0811	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.70487	0.951;0.951;0.969;0.951	T	0.01102	-1.1451	9	0.72032	D	0.01	-4.7041	14.2196	0.65818	0.074:0.0:0.926:0.0	.	758;758;720;758	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	C	758;758;720;758	ENSP00000385591:R758C;ENSP00000372576:R758C;ENSP00000300227:R720C;ENSP00000385867:R758C	ENSP00000300227:R720C	R	-	1	0	C18orf34	28926839	0.032000	0.19561	0.949000	0.38748	0.226000	0.24999	1.710000	0.37920	2.770000	0.95276	0.650000	0.86243	CGT	G|1.000;A|0.000		0.259	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30672841	G	A	30672841	3	1	52	1	0	0	0	0	1	0	0	0	1909	1087	38	1	343	1	C18orf34	18	30672841	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	5089842	30672841	47404407	549	11200											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	31250678	31250678	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagaaatggagtctcaatGatggtaaacaagactgttcc	10	6	1	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:31250678G>A	ENST00000269197.5	+	6	519	c.519G>A	c.(517-519)atG>atA	p.M173I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGTCTCAATGATGGTAAACA	0.353																																					p.M173I		.											.	ASXL3-49	0			c.G519A						.						76	79	78					18																	31250678		1872	4092	5964	SO:0001583	missense	80816	exon6			CTCAATGATGGTA	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.519G>A	18.37:g.31250678G>A	ENSP00000269197:p.Met173Ile	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	87	74	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374296	0.42105	.	.	ENSG00000141431	ENST00000269197	T	0.15139	2.45	5.48	5.48	0.80851	.	.	.	.	.	T	0.13157	0.0319	N	0.19112	0.55	0.41319	D	0.987165	B	0.30406	0.278	B	0.24155	0.051	T	0.10200	-1.0640	9	0.30854	T	0.27	.	19.3689	0.94477	0.0:0.0:1.0:0.0	.	173	Q9C0F0	ASXL3_HUMAN	I	173	ENSP00000269197:M173I	ENSP00000269197:M173I	M	+	3	0	ASXL3	29504676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.595000	0.87683	0.655000	0.94253	ATG	.		0.353	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31250678	G	A	31250678	3	1	52	1	0	0	0	0	1	0	0	0	1069	1290	45	3	541	3	ASXL3	18	31250678	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	577837	31250678	46826570	550	11201											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	31324011	31324011	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agccctcagctgcagtgattCtgtagcggtcacagactctc	10	13	4	2	rs267605176		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:31324011C>G	ENST00000269197.5	+	12	4199	c.4199C>G	c.(4198-4200)tCt>tGt	p.S1400C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1400					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						TGCAGTGATTCTGTAGCGGTC	0.483											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1400C		.											.	ASXL3-49	0			c.C4199G						.						120	123	122					18																	31324011		2007	4164	6171	SO:0001583	missense	80816	exon12			GTGATTCTGTAGC	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.4199C>G	18.37:g.31324011C>G	ENSP00000269197:p.Ser1400Cys	Somatic	150	0	823	WXS	Illumina GAIIx	Phase_I	137	8	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	5.505	0.278217	0.10403	.	.	ENSG00000141431	ENST00000269197	T	0.15372	2.43	6.03	4.15	0.48705	.	.	.	.	.	T	0.14700	0.0355	N	0.19112	0.55	0.09310	N	1	P	0.46020	0.871	B	0.43916	0.436	T	0.08785	-1.0705	9	0.62326	D	0.03	.	12.2483	0.54583	0.0:0.7997:0.1299:0.0704	.	1400	Q9C0F0	ASXL3_HUMAN	C	1400	ENSP00000269197:S1400C	ENSP00000269197:S1400C	S	+	2	0	ASXL3	29578009	0.003000	0.15002	0.042000	0.18584	0.283000	0.27025	1.817000	0.39002	1.558000	0.49541	0.655000	0.94253	TCT	.		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31324011	C	G	31324011	3	3	52	1	0	0	0	0	1	0	0	0	1069	913	32	3	4245	3	ASXL3	18	31324011	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	73333	31324011	46753237	551	11202											
SLC14A1	6563	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	43319234	43319234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcctccccactcatgtGcctgcatgctgccataggat	7	16	2	0	rs201451018		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:43319234G>A	ENST00000321925.4	+	7	1002	c.770G>A	c.(769-771)tGc>tAc	p.C257Y	SLC14A1_ENST00000436407.3_Missense_Mutation_p.C313Y|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000402943.2_Missense_Mutation_p.C152Y|SLC14A1_ENST00000535474.1_Missense_Mutation_p.C125Y|SLC14A1_ENST00000591541.1_5'Flank|SLC14A1_ENST00000415427.3_Missense_Mutation_p.C313Y|SLC14A1_ENST00000502059.2_Missense_Mutation_p.C149Y|SLC14A1_ENST00000586142.1_Missense_Mutation_p.C257Y	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	257					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCACTCATGTGCCTGCATGCT	0.522																																					p.C313Y		.											.	SLC14A1-515	0			c.G938A						.						103	92	96					18																	43319234		2203	4300	6503	SO:0001583	missense	6563	exon6			TCATGTGCCTGCA	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.770G>A	18.37:g.43319234G>A	ENSP00000318546:p.Cys257Tyr	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	88	8	NM_001146037	0	0	0	0	0	A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055127	0.55325	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.71	2.84	0.33178	.	0.066254	0.64402	D	0.000014	T	0.74627	0.3741	M	0.93678	3.445	0.80722	D	1	P;P;P	0.47106	0.85;0.873;0.89	B;P;P	0.59703	0.42;0.862;0.714	T	0.77247	-0.2658	10	0.87932	D	0	-11.3005	10.675	0.45781	0.0:0.2383:0.5151:0.2466	.	313;149;257	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	Y	257;313;149;152;125;313	ENSP00000318546:C257Y;ENSP00000412309:C313Y;ENSP00000442180:C149Y;ENSP00000385320:C152Y;ENSP00000441998:C125Y;ENSP00000390637:C313Y	ENSP00000318546:C257Y	C	+	2	0	SLC14A1	41573232	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.467000	0.53078	0.296000	0.22592	-0.165000	0.13383	TGC	G|0.999;T|0.001		0.522	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		A	43319234	G	A	43319234	3	1	52	1	0	0	0	0	1	0	0	0	14441	1319	46	3	960	3	SLC14A1	18	43319234	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	11995223	43319234	34758014	552	11203											
CXXC1	30827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	47809921	47809921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatggacccaaaggacGtctggctctcatactggagg	13	10	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:47809921G>A	ENST00000285106.6	-	12	2252	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M	MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.T517M|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.T513M|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000587605.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	513					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCAAAGGACGTCTGGCTCTC	0.577																																					p.T517M		.											.	CXXC1-131	0			c.C1550T						.						79	59	66					18																	47809921		2203	4300	6503	SO:0001583	missense	30827	exon12			AAGGACGTCTGGC	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1538C>T	18.37:g.47809921G>A	ENSP00000285106:p.Thr513Met	Somatic	267	1		WXS	Illumina GAIIx	Phase_I	144	109	NM_001101654	0	0	2	20	18	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746235	0.49257	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24538	1.85;1.86	4.65	4.65	0.58169	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	L	0.31065	0.9	0.80722	D	1	D;D;P	0.55172	0.963;0.97;0.854	P;P;B	0.48227	0.571;0.552;0.196	T	0.02053	-1.1222	10	0.45353	T	0.12	-12.5162	15.3793	0.74641	0.0:0.0:1.0:0.0	.	517;513;380	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	M	513;517	ENSP00000285106:T513M;ENSP00000390475:T517M	ENSP00000285106:T513M	T	-	2	0	CXXC1	46063919	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.906000	0.92626	2.290000	0.77057	0.467000	0.42956	ACG	.		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		A	47809921	G	A	47809921	3	1	52	1	0	0	0	0	1	0	0	0	4106	1145	40	1	448	1	CXXC1	18	47809921	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4490687	47809921	30267327	553	11204											
NEDD4L	23327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	56063446	56063446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaacctttgaagatttacGagagaaacttctcatggccg	9	8	1	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:56063446G>A	ENST00000400345.3	+	31	3156	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NEDD4L_ENST00000589054.1_Missense_Mutation_p.R89Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R938Q|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R837Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R894Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R837Q|RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R950Q|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R854Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R818Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R817Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R817Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R930Q	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	958	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAAGATTTACGAGAGAAACTT	0.453																																					p.R958Q		.											.	NEDD4L-658	0			c.G2873A						.						107	92	97					18																	56063446		1859	4109	5968	SO:0001583	missense	23327	exon31			ATTTACGAGAGAA	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2873G>A	18.37:g.56063446G>A	ENSP00000383199:p.Arg958Gln	Somatic	74	1		WXS	Illumina GAIIx	Phase_I	45	32	NM_001144967	0	0	1	12	11	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220610	0.79464	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.77	5.77	0.91146	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0;1.0	P;P;P;D;D;P	0.63488	0.74;0.797;0.562;0.915;0.91;0.797	T	0.73789	-0.3872	10	0.49607	T	0.09	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	930;950;817;894;958;938	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	Q	958;938;894;854;818;837;950;817;817;837	ENSP00000383199:R958Q;ENSP00000372301:R938Q;ENSP00000348847:R894Q;ENSP00000256830:R854Q;ENSP00000256832:R818Q;ENSP00000411947:R837Q;ENSP00000350569:R950Q;ENSP00000393395:R817Q;ENSP00000405440:R817Q;ENSP00000389406:R837Q	ENSP00000256830:R854Q	R	+	2	0	NEDD4L	54214426	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.813000	0.99286	2.890000	0.99128	0.650000	0.86243	CGA	.		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	56063446	G	A	56063446	3	1	52	1	0	0	0	0	1	0	0	0	10350	1058	37	1	3023	1	NEDD4L	18	56063446	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	8253525	56063446	22013802	554	11205											
TNFRSF11A	8792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	60017106	60017106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtctgccctgtggcccGgatgaatacttggatagctg	13	9	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:60017106G>A	ENST00000586569.1	+	3	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_ENST00000269485.7_Silent_p.P73P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	73					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P73P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423																																					p.P73P		.											.	TNFRSF11A-659	1	Substitution - coding silent(1)	cervix(1)	c.G219A						.						192	182	185					18																	60017106		2203	4300	6503	SO:0001819	synonymous_variant	8792	exon3			TGGCCCGGATGAA	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.219G>A	18.37:g.60017106G>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	68	59	NM_001270951	0	0	0	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																			.		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			A	60017106	G	A	60017106	2	1	52	1	0	0	0	0	0	0	0	1	16331	1103	39	1		1	TNFRSF11A	18	60017106	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3953660	60017106	18060142	555	11206											
SERPINB2	5055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	61564454	61564454	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcgagcttccgggaaGtaagtgaaacctgtaattga	12	7	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:61564454G>A	ENST00000299502.4	+	4	497		c.e4+1		SERPINB2_ENST00000482254.1_Splice_Site|SERPINB2_ENST00000457692.1_Splice_Site	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2						blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CTTCCGGGAAGTAAGTGAAAC	0.418																																					.		.											.	SERPINB2-226	0			c.417+1G>A						.						99	100	100					18																	61564454		2203	4300	6503	SO:0001630	splice_region_variant	5055	exon4			CGGGAAGTAAGTG	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.417+1G>A	18.37:g.61564454G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	35	24	NM_002575	0	0	0	0	0	Q96E96	Splice_Site	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020839	0.75275	.	.	ENSG00000197632;ENSG00000197632;ENSG00000197632;ENSG00000242550;ENSG00000242550	ENST00000299502;ENST00000457692;ENST00000413956;ENST00000397996;ENST00000418725	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9148	0.92501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB10;SERPINB2	59715434	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.746000	0.62133	2.805000	0.96524	0.655000	0.94253	.	.		0.418	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	Intron	A	61564454	G	A	61564454	5	1	52	1	0	0	0	0	0	0	1	0	14146	1043	36	3	428	3	SERPINB2	18	61564454	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1547348	61564454	16512794	556	11207											
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	72347651	72347651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcctggcacacattcGcactcacacaggtatgtagc	9	14	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr18:72347651G>A	ENST00000299687.5	+	1	4676	c.4676G>A	c.(4675-4677)cGc>cAc	p.R1559H	ZNF407_ENST00000582337.1_Missense_Mutation_p.R1559H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1559H|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1559H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1559					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)		GCACACATTCGCACTCACACA	0.527																																					p.R1559H		.											.	ZNF407-92	0			c.G4676A						.						79	84	82					18																	72347651		2125	4237	6362	SO:0001583	missense	55628	exon1			ACATTCGCACTCA	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.4676G>A	18.37:g.72347651G>A	ENSP00000299687:p.Arg1559His	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	201	171	NM_001146190	0	0	0	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334645	0.81801	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.25749	1.78;1.78	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.52468	0.1736	M	0.69248	2.105	0.41275	D	0.986871	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.57923	-0.7727	10	0.87932	D	0	.	18.7659	0.91873	0.0:0.0:1.0:0.0	.	1559;1559;1559	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	1559	ENSP00000299687:R1559H;ENSP00000310359:R1559H	ENSP00000299687:R1559H	R	+	2	0	ZNF407	70476639	1.000000	0.71417	0.997000	0.53966	0.745000	0.42441	9.476000	0.97823	1.148000	0.42385	0.585000	0.79938	CGC	.		0.527	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72347651	G	A	72347651	3	1	52	1	0	0	0	0	1	0	0	0	17935	1087	38	1	4678	1	ZNF407	18	72347651	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10783197	72347651	5729597	557	11208											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_005224	0	0	0	1	1	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	52	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10		929753	58199230	558	11209											
ATP8B3	148229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1796766	1796766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcagatggccagcaggCgccagaactcccgcacggcc	14	15	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:1796766C>T	ENST00000310127.6	-	16	1935	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R566H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R519H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	566					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)		GGCCAGCAGGCGCCAGAACTC	0.697																																					p.R566H		.											.	.	0			c.G1697A						.						28	35	32					19																	1796766		2098	4184	6282	SO:0001583	missense	148229	exon16			AGCAGGCGCCAGA	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.1697G>A	19.37:g.1796766C>T	ENSP00000311336:p.Arg566His	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	114	101	NM_138813	0	0	0	0	0	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625068	0.66901	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.69040	-0.37;-0.37;-0.37	3.63	2.53	0.30540	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.068275	0.56097	D	0.000034	T	0.81754	0.4889	M	0.88570	2.965	0.19775	N	0.999958	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.70799	-0.4774	10	0.62326	D	0.03	.	10.5401	0.45029	0.0:0.899:0.0:0.101	.	566;519	O60423;Q7Z485	AT8B3_HUMAN;.	H	566;566;519	ENSP00000311336:R566H;ENSP00000443574:R566H;ENSP00000437115:R519H	ENSP00000311336:R566H	R	-	2	0	ATP8B3	1747766	0.002000	0.14202	0.972000	0.41901	0.724000	0.41520	0.786000	0.26844	1.878000	0.54408	0.561000	0.74099	CGC	.		0.697	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1796766	C	T	1796766	3	4	52	1	0	0	0	0	1	0	0	0	1197	768	27	1	2291	1	ATP8B3	19	1796766	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	867013	1796766	57332217	559	11210											
NCLN	56926	broad.mit.edu	37	chr19	3198895	3198895	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcctttggagtggccccCgtacgtatgtgtgtccccat	12	13	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:3198895C>T	ENST00000246117.4	+	5	1127	c.696C>T	c.(694-696)ccC>ccT	p.P232P	NCLN_ENST00000590671.1_Splice_Site_p.P158P	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	232					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGGCCCCCGTACGTATGT	0.662																																					p.P232P		.											.	NCLN-90	0			c.C696T						.						82	62	69					19																	3198895		2203	4300	6503	SO:0001630	splice_region_variant	56926	exon5			GGCCCCCGTACGT	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.696+1C>T	19.37:g.3198895C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	92	4	NM_020170	0	0	1	1	0	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	CCDS32869.1																																																																																			.		0.662	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170	Silent	T	3198895	C	T	3198895	5	4	52	1	0	0	0	0	0	0	1	0	10266	666	23	1	714	1	NCLN	19	3198895	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1402129	3198895	55930088	560	11211											
TBXA2R	6915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	3595765	3595765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggcgaggctggagaCgccggagcacggcgcggcgg	21	11	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:3595765C>T	ENST00000375190.4	-	3	1346	c.953G>A	c.(952-954)cGt>cAt	p.R318H	TBXA2R_ENST00000589966.1_Silent_p.A188A|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R318H|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	318					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)			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)	AGGCTGGAGACGCCGGAGCAC	0.677																																					p.R318H		.											.	TBXA2R-90	0			c.G953A						.						15	20	18					19																	3595765		2160	4268	6428	SO:0001583	missense	6915	exon3			TGGAGACGCCGGA		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.953G>A	19.37:g.3595765C>T	ENSP00000364336:p.Arg318His	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	182	66	NM_201636	0	0	6	8	2	O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598287	0.87055	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.38077	1.16;1.19	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.32530	0.975	0.37262	D	0.907037	D	0.89917	1.0	D	0.68621	0.959	T	0.57341	-0.7828	10	0.72032	D	0.01	-28.8672	17.4889	0.87698	0.0:1.0:0.0:0.0	.	318	P21731	TA2R_HUMAN	H	318	ENSP00000393333:R318H;ENSP00000364336:R318H	ENSP00000364336:R318H	R	-	2	0	TBXA2R	3546765	0.995000	0.38212	0.195000	0.23364	0.062000	0.15995	3.606000	0.54095	2.486000	0.83907	0.561000	0.74099	CGT	.		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3595765	C	T	3595765	3	4	52	1	0	0	0	0	1	0	0	0	15710	536	19	1	327	1	TBXA2R	19	3595765	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	396870	3595765	55533218	561	11212											
PLIN3	10226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	4839518	4839518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgctgggcaatgtcccGgaacatggtgagcgcccggg	16	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:4839518G>A	ENST00000221957.4	-	8	1167	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000585479.1_Missense_Mutation_p.R330W|PLIN3_ENST00000592528.1_Missense_Mutation_p.R319W	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	331					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GCAATGTCCCGGAACATGGTG	0.622																																					p.R331W		.											.	PLIN3-90	0			c.C991T						.						29	25	26					19																	4839518		2203	4300	6503	SO:0001583	missense	10226	exon8			TGTCCCGGAACAT	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.991C>T	19.37:g.4839518G>A	ENSP00000221957:p.Arg331Trp	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	89	69	NM_005817	0	0	3	84	81	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813369	0.50527	.	.	ENSG00000105355	ENST00000221957	T	0.10860	2.83	4.85	2.59	0.31030	.	0.782498	0.11340	U	0.574180	T	0.37732	0.1014	M	0.86268	2.805	0.36953	D	0.892942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.953;0.999;0.98	T	0.42616	-0.9441	10	0.87932	D	0	-25.2727	13.3523	0.60609	0.0:0.0:0.5792:0.4208	.	330;148;331	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	W	331	ENSP00000221957:R331W	ENSP00000221957:R331W	R	-	1	2	PLIN3	4790518	0.886000	0.30341	0.518000	0.27811	0.198000	0.23893	3.035000	0.49759	0.390000	0.25115	0.555000	0.69702	CGG	.		0.622	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		A	4839518	G	A	4839518	3	1	52	1	0	0	0	0	1	0	0	0	12130	1115	39	1	317	1	PLIN3	19	4839518	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1243753	4839518	54289465	562	11213											
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	5244045	5244045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaggctgtcgtccacGttgtgcttctgccagttgcc	12	13	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:5244045G>A	ENST00000587303.1	-	10	1536	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.N475N|PTPRS_ENST00000588012.1_Silent_p.N466N|PTPRS_ENST00000592099.1_Silent_p.N466N|PTPRS_ENST00000372412.4_Silent_p.N480N|PTPRS_ENST00000348075.2_Silent_p.N466N|PTPRS_ENST00000353284.2_Silent_p.N466N|PTPRS_ENST00000357368.4_Silent_p.N479N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	479	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGTCGTCCACGTTGTGCTTCT	0.677																																					p.N479N		.											.	PTPRS-357	0			c.C1437T						.						104	86	92					19																	5244045		2203	4300	6503	SO:0001819	synonymous_variant	5802	exon11			GTCCACGTTGTGC	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.1437C>T	19.37:g.5244045G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	61	47	NM_002850	0	0	0	1	1	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																			.		0.677	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5244045	G	A	5244045	2	1	52	1	0	0	0	0	0	0	0	1	12856	1136	40	1		1	PTPRS	19	5244045	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	404527	5244045	53884938	563	11214											
ARHGEF18	23370	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	7529570	7529576	+	Splice_Site	DEL	GCAGGTG	GCAGGTG	-													gggagctctgaggaatcgccGcaggtggtacgtggatatcc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	GCAGGTG	GCAGGTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:7529570_7529576delGCAGGTG	ENST00000359920.6	+	13	2587_2593	c.2334_2340delGCAGGTG	c.(2332-2340)ccgcaggtg>cc	p.PQV778fs	CTD-2207O23.3_ENST00000593531.1_Splice_Site_p.RRW736fs|ARHGEF18_ENST00000319670.9_Splice_Site_p.PQV620fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	778					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGGAATCGCCGCAGGTGGTACGTGGAT	0.556																																					p.778_780del		.											.	ARHGEF18-228	0			c.2334_2340del						.																																			SO:0001630	splice_region_variant	23370	exon13			ATCGCCGCAGGTG	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2340+1GCAGGTG>-	19.37:g.7529570_7529576delGCAGGTG		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	194	29	NM_001130955	0	0	0	0	0	A8MV62|B5ME81|O60274|Q6DD92	Frame_Shift_Del	DEL	ENST00000359920.6	37	CCDS45946.1																																																																																			.		0.556	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Frame_Shift_Del	-	7529576	GCAGGTG	-	7529570	8	5	52	1	0	1	0	1	0	0	1	0	901	1074	38	0	2384	0	ARHGEF18	19	7529570	Splice_Site	DEL	GCAGGTG	TCGA-OR-A5LJ-01A-11D-A29I-10	2285525	7529570	51599413	564	11215											
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	8203066	8203066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctggggatcccacgcGcatcagagccatgggggttg	16	12	1	1	rs141919495	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:8203066G>A	ENST00000600128.1	-	10	1574	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	FBN3_ENST00000601739.1_Missense_Mutation_p.A387V|FBN3_ENST00000270509.2_Missense_Mutation_p.A387V			Q75N90	FBN3_HUMAN	fibrillin 3	387						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						GATCCCACGCGCATCAGAGCC	0.637													G|||	2	0.000399361	8e-04	0	5008	,	,		16552	0		0.001	False		,,,				2504	0				p.A387V		.											.	FBN3-100	0			c.C1160T						.	G	VAL/ALA	0,4396		0,0,2198	18	22	21		1160	2.2	0	19	dbSNP_134	21	2,8584		0,2,4291	yes	missense	FBN3	NM_032447.3	64	0,2,6489	AA,AG,GG		0.0233,0.0,0.0154	benign	387/2810	8203066	2,12980	2198	4293	6491	SO:0001583	missense	84467	exon9			CCACGCGCATCAG		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.1160C>T	19.37:g.8203066G>A	ENSP00000470498:p.Ala387Val	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	162	93	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.460	-0.889713	0.02511	0.0	2.33E-4	ENSG00000142449	ENST00000270509	D	0.87029	-2.2	4.38	2.23	0.28157	.	0.749875	0.11829	U	0.525365	T	0.67878	0.2940	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.53732	-0.8397	10	0.15952	T	0.53	.	6.6156	0.22774	0.0:0.7139:0.1849:0.1011	.	387	Q75N90	FBN3_HUMAN	V	387	ENSP00000270509:A387V	ENSP00000270509:A387V	A	-	2	0	FBN3	8109066	0.361000	0.24972	0.014000	0.15608	0.036000	0.12997	1.223000	0.32527	0.314000	0.23086	-0.306000	0.09157	GCG	G|1.000;A|0.000		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8203066	G	A	8203066	3	1	52	1	0	0	0	0	1	0	0	0	5726	1087	38	1	7489	1	FBN3	19	8203066	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	673496	8203066	50925917	565	11216											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399709	8399709	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccacgcgtccgcctcCacggtctcgggggcagcctc	12	19	2	0	rs890852	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:8399709C>A	ENST00000593649.1	-	3	1067	c.1002G>T	c.(1000-1002)gtG>gtT	p.V334V	KANK3_ENST00000330915.3_Silent_p.V334V			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	334										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGTCCGCCTCCACGGTCTCGG	0.781													A|||	606	0.121006	0.0946	0.0634	5008	,	,		9441	0.0893		0.1859	False		,,,				2504	0.1636				p.V334V		.											.	KANK3-90	0			c.G1002T						.						1	1	1					19																	8399709		1139	2506	3645	SO:0001819	synonymous_variant	256949	exon3			CGCCTCCACGGTC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1002G>T	19.37:g.8399709C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_198471	0	0	0	1	1	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37																																																																																				T|0.129;G|0.871		0.781	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		A	8399709	C	A	8399709	2	1	52	1	0	0	0	0	0	0	0	1	8005	581	21	3		3	KANK3	19	8399709	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	196643	8399709	50729274	566	11217											
RAB11B	9230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8464942	8464942	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgcgccatcacctccgCgtgcgtgtcggcagcctggg	13	17	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:8464942C>T	ENST00000328024.6	+	2	454	c.236C>T	c.(235-237)gCg>gTg	p.A79V	RAB11B_ENST00000594216.1_Splice_Site_p.A79V|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	79					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						ATCACCTCCGCGTGCGTGTCG	0.672																																					p.A79V		.											.	RAB11B-227	0			c.C236T						.						46	44	45					19																	8464942		2203	4299	6502	SO:0001630	splice_region_variant	9230	exon2			CCTCCGCGTGCGT	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.236+1C>T	19.37:g.8464942C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	574	210	NM_004218	0	0	0	0	0	A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263575	0.95399	.	.	ENSG00000185236	ENST00000328024	T	0.80214	-1.35	4.23	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.984	D	0.87417	0.2379	10	0.87932	D	0	.	15.6927	0.77466	0.0:1.0:0.0:0.0	.	79;79	B4DMK0;Q15907	.;RB11B_HUMAN	V	79	ENSP00000333547:A79V	ENSP00000333547:A79V	A	+	2	0	RAB11B	8370942	1.000000	0.71417	0.986000	0.45419	0.914000	0.54420	7.651000	0.83577	2.341000	0.79615	0.462000	0.41574	GCG	.		0.672	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218	Missense_Mutation	T	8464942	C	T	8464942	5	4	52	1	0	0	0	0	0	0	1	0	12937	782	27	1	242	1	RAB11B	19	8464942	Splice_Site	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	65233	8464942	50664041	567	11218											
PIN1	5300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9959811	9959811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcgtttgcgctgcggaCgggggagatgagcgggcccg	19	12	0	2	rs112773610		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:9959811C>T	ENST00000247970.4	+	4	450	c.428C>T	c.(427-429)aCg>aTg	p.T143M	PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000588695.1_Missense_Mutation_p.T143M|AC008752.3_ENST00000582439.1_RNA	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	143	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GCGCTGCGGACGGGGGAGATG	0.677																																					p.T143M		.											.	PIN1-227	0			c.C428T						.						55	50	51					19																	9959811		2203	4300	6503	SO:0001583	missense	5300	exon4			TGCGGACGGGGGA		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.428C>T	19.37:g.9959811C>T	ENSP00000247970:p.Thr143Met	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	128	76	NM_006221	0	0	61	165	104	A8K4V9|Q53X75	Missense_Mutation	SNP	ENST00000247970.4	37	CCDS12220.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694168	0.48202	.	.	ENSG00000127445	ENST00000247970;ENST00000380889	T	0.43294	0.95	4.09	4.09	0.47781	Peptidyl-prolyl cis-trans isomerase, PpiC-type (2);	0.407250	0.24625	N	0.036932	T	0.35278	0.0926	L	0.29908	0.895	0.34174	D	0.670111	B	0.32467	0.372	B	0.39027	0.288	T	0.48103	-0.9064	9	.	.	.	-8.0004	13.9228	0.63942	0.0:1.0:0.0:0.0	.	143	Q13526	PIN1_HUMAN	M	143;14	ENSP00000247970:T143M	.	T	+	2	0	PIN1	9820811	0.999000	0.42202	0.986000	0.45419	0.654000	0.38779	3.978000	0.56881	2.125000	0.65367	0.555000	0.69702	ACG	C|0.500;T|0.500		0.677	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			T	9959811	C	T	9959811	3	4	52	1	0	0	0	0	1	0	0	0	11969	536	19	1	442	1	PIN1	19	9959811	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1494869	9959811	49169172	568	11219											
TYK2	7297	hgsc.bcm.edu;bcgsc.ca	37	chr19	10479028	10479028	+	Frame_Shift_Del	DEL	G	G	-													ggatctctaggatgtggtttGggggcaaccagacttgggcc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:10479028delG	ENST00000525621.1	-	4	741	c.260delC	c.(259-261)ccafs	p.P87fs	TYK2_ENST00000264818.6_Frame_Shift_Del_p.P87fs|TYK2_ENST00000529370.1_Frame_Shift_Del_p.P87fs|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	87	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			GATGTGGTTTGGGGGCAACCA	0.532																																					p.P87fs		.											.	TYK2-1009	0			c.260delC						.						144	130	135					19																	10479028		2203	4300	6503	SO:0001589	frameshift_variant	7297	exon4			TGGTTTGGGGGCA		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.260delC	19.37:g.10479028delG	ENSP00000431885:p.Pro87fs	Somatic	285	2		WXS	Illumina GAIIx	Phase_I	509	156	NM_003331	0	0	0	0	0	Q6QB10|Q96CH0	Frame_Shift_Del	DEL	ENST00000525621.1	37	CCDS12236.1																																																																																			.		0.532	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			-	10479028	G	-	10479028	7	5	52	1	0	1	0	1	0	0	0	0	16859	1348	47	0	3391	0	TYK2	19	10479028	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	519217	10479028	48649955	569	11220											
ILF3	3609	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	10798173	10798173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaagaagcagccgcaCgggggccagcagaagccctc	16	13	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:10798173C>T	ENST00000590261.1	+	17	2211	c.2211C>T	c.(2209-2211)caC>caT	p.H737H	ILF3_ENST00000449870.1_Silent_p.H741H|ILF3_ENST00000588657.1_Silent_p.H741H|ILF3_ENST00000318511.3_Silent_p.H737H			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	737	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCAGCCGCACGGGGGCCAGC	0.647																																					p.H741H		.											.	ILF3-93	0			c.C2223T						.						31	32	32					19																	10798173		2203	4300	6503	SO:0001819	synonymous_variant	3609	exon18			GCCGCACGGGGGC	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2211C>T	19.37:g.10798173C>T		Somatic	166	0		WXS	Illumina GAIIx	Phase_I	279	166	NM_017620	0	1	53	134	80	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																			.		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10798173	C	T	10798173	2	4	52	1	0	0	0	0	0	0	0	1	7739	535	19	1		1	ILF3	19	10798173	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	319145	10798173	48330810	570	11221											
LDLR	3949	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	11218155	11218155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaacatggctagagactGccgggactggtcagatgaac	13	10	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:11218155G>T	ENST00000558518.1	+	6	1092	c.905G>T	c.(904-906)tGc>tTc	p.C302F	LDLR_ENST00000535915.1_Missense_Mutation_p.C261F|LDLR_ENST00000557933.1_Missense_Mutation_p.C302F|LDLR_ENST00000558013.1_Missense_Mutation_p.C302F|LDLR_ENST00000455727.2_Missense_Mutation_p.C134F|LDLR_ENST00000545707.1_Missense_Mutation_p.C175F	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	302	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> W (in FH; Iraki patient). {ECO:0000269|PubMed:9026534}.|C -> Y (in FH; Spanish patient).		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)	GCTAGAGACTGCCGGGACTGG	0.562																																					p.C302F	GBM(18;201 575 7820 21545)	.											.	LDLR-94	1	Unknown(1)	lung(1)	c.G905T	GRCh37	CM970882	LDLR	M		.						123	104	110					19																	11218155		2203	4300	6503	SO:0001583	missense	3949	exon6			GAGACTGCCGGGA	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.905G>T	19.37:g.11218155G>T	ENSP00000454071:p.Cys302Phe	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	351	22	NM_001195798	0	0	75	78	3	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852653	0.71719	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.99939	-8.0;-8.35;-8.35	5.33	5.33	0.75918	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000004	D	0.99964	0.9986	H	0.99881	4.885	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96431	0.9319	10	0.87932	D	0	.	17.7893	0.88547	0.0:0.0:1.0:0.0	.	134;175;181;261;314;302	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	F	302;175;261;134	ENSP00000437639:C175F;ENSP00000440520:C261F;ENSP00000397829:C134F	ENSP00000252444:C302F	C	+	2	0	LDLR	11079155	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	9.678000	0.98647	2.496000	0.84212	0.561000	0.74099	TGC	.		0.562	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			T	11218155	G	T	11218155	3	4	52	1	0	0	0	0	1	0	0	0	8732	1319	46	3	927	3	LDLR	19	11218155	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	419982	11218155	47910828	571	11222											
ZNF563	147837	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	12429665	12429665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatatcttgcatttatgagGtccacctccagtgtgcatta	7	10	1	1	rs201356487		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:12429665G>A	ENST00000293725.5	-	4	1379	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATTTATGAGGTCCACCTCCA	0.423																																					p.P392S	GBM(39;623 795 5132 29510 31476)	.											.	ZNF563-90	0			c.C1174T						.						190	181	184					19																	12429665		2203	4300	6503	SO:0001583	missense	147837	exon4			TATGAGGTCCACC	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1174C>T	19.37:g.12429665G>A	ENSP00000293725:p.Pro392Ser	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	287	15	NM_145276	0	0	11	13	2	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664715	0.67700	.	.	ENSG00000188868	ENST00000293725	T	0.28454	1.61	1.0	1.0	0.19881	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47655	0.1457	M	0.64170	1.965	0.40146	D	0.97689	D	0.89917	1.0	D	0.97110	1.0	T	0.50541	-0.8816	9	0.66056	D	0.02	.	9.5191	0.39124	0.0:0.0:1.0:0.0	.	392	Q8TA94	ZN563_HUMAN	S	392	ENSP00000293725:P392S	ENSP00000293725:P392S	P	-	1	0	ZNF563	12290665	0.895000	0.30542	0.030000	0.17652	0.540000	0.34992	1.989000	0.40707	0.840000	0.34995	0.313000	0.20887	CCT	G|1.000;T|0.000		0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		A	12429665	G	A	12429665	3	1	52	1	0	0	0	0	1	0	0	0	18042	1261	44	3	260	3	ZNF563	19	12429665	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1211510	12429665	46699318	572	11223											
ASNA1	439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12858083	12858083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaggagacgctgcccGtcatccgctcagtcagcgaa	13	13	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:12858083G>A	ENST00000591090.1	+	6	784	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	ASNA1_ENST00000357332.3_Missense_Mutation_p.V228I					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						GACGCTGCCCGTCATCCGCTC	0.657																																					p.V228I		.											.	ASNA1-92	0			c.G682A						.						62	55	58					19																	12858083		2203	4300	6503	SO:0001583	missense	439	exon5			CTGCCCGTCATCC	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.682G>A	19.37:g.12858083G>A	ENSP00000466379:p.Val228Ile	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	201	53	NM_004317	0	0	180	252	72		Missense_Mutation	SNP	ENST00000591090.1	37	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635871	0.47049	.	.	ENSG00000198356	ENST00000357332	T	0.42900	0.96	5.24	5.24	0.73138	.	0.128334	0.52532	D	0.000072	T	0.25306	0.0615	N	0.21583	0.68	0.80722	D	1	P;B	0.44521	0.837;0.11	B;B	0.27715	0.082;0.022	T	0.08006	-1.0743	10	0.29301	T	0.29	-48.3867	17.5926	0.88001	0.0:0.0:1.0:0.0	.	210;228	E7EVN0;O43681	.;ASNA_HUMAN	I	228	ENSP00000349887:V228I	ENSP00000349887:V228I	V	+	1	0	ASNA1	12719083	1.000000	0.71417	0.982000	0.44146	0.465000	0.32709	9.060000	0.93907	2.444000	0.82710	0.655000	0.94253	GTC	.		0.657	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		A	12858083	G	A	12858083	3	1	52	1	0	0	0	0	1	0	0	0	1048	1145	40	1	700	1	ASNA1	19	12858083	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	428418	12858083	46270900	573	11224											
HOOK2	29911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	12881872	12881872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaggcgctcatcctccCtgccactctccagcctgggg	11	18	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:12881872C>A	ENST00000397668.3	-	10	849	c.776G>T	c.(775-777)aGg>aTg	p.R259M	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.R259M	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	259	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTCATCCTCCCTGCCACTCTC	0.701																																					p.R259M		.											.	HOOK2-92	0			c.G776T						.						16	20	19					19																	12881872		2008	4160	6168	SO:0001583	missense	29911	exon10			TCCTCCCTGCCAC	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.776G>T	19.37:g.12881872C>A	ENSP00000380785:p.Arg259Met	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	215	21	NM_001100176	0	0	6	10	4	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	c	12.38	1.921228	0.33908	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.24538	1.85;1.85	4.8	2.37	0.29283	.	0.250737	0.37348	N	0.002122	T	0.45458	0.1343	M	0.80183	2.485	0.28473	N	0.915329	D;D	0.76494	0.998;0.999	D;D	0.66716	0.911;0.946	T	0.31998	-0.9923	10	0.87932	D	0	-16.0147	6.7677	0.23576	0.1799:0.689:0.0:0.1312	.	259;259	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	259	ENSP00000380785:R259M;ENSP00000264827:R259M	ENSP00000264827:R259M	R	-	2	0	HOOK2	12742872	0.003000	0.15002	0.959000	0.39883	0.171000	0.22731	1.263000	0.33004	0.961000	0.38030	0.454000	0.30748	AGG	.		0.701	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12881872	C	A	12881872	3	1	52	1	0	0	0	0	1	0	0	0	7310	681	24	3	1439	3	HOOK2	19	12881872	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	23789	12881872	46247111	574	11225											
MAST1	22983	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	12980051	12980051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtatggcttcacactgcGtgccatccgtgtctacatgg	11	11	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:12980051G>A	ENST00000251472.4	+	22	2984	c.2945G>A	c.(2944-2946)cGt>cAt	p.R982H		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						TTCACACTGCGTGCCATCCGT	0.587																																					p.R982H		.											.	MAST1-523	0			c.G2945A						.						71	60	64					19																	12980051		2203	4300	6503	SO:0001583	missense	22983	exon22			CACTGCGTGCCAT	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.2945G>A	19.37:g.12980051G>A	ENSP00000251472:p.Arg982His	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	283	99	NM_014975	0	0	0	0	0		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529547	0.85706	.	.	ENSG00000105613	ENST00000251472	T	0.27256	1.68	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	N	0.12527	0.23	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.12785	-1.0534	10	0.22706	T	0.39	-10.5303	15.5035	0.75719	0.0:0.0:1.0:0.0	.	982	Q9Y2H9	MAST1_HUMAN	H	982	ENSP00000251472:R982H	ENSP00000251472:R982H	R	+	2	0	MAST1	12841051	1.000000	0.71417	0.968000	0.41197	0.925000	0.55904	9.734000	0.98822	2.327000	0.79052	0.462000	0.41574	CGT	.		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		A	12980051	G	A	12980051	3	1	52	1	0	0	0	0	1	0	0	0	9362	1145	40	1	3031	1	MAST1	19	12980051	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	98179	12980051	46148932	575	11226											
KLF1	10661	broad.mit.edu	37	chr19	12995769	12995769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgggcagagctggcagCggaaggggcgctgccccgtg	19	12	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:12995769C>T	ENST00000264834.4	-	3	1059	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	340					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTGGCAGCGGAAGGGGCG	0.647																																					p.R340H		.											.	KLF1-90	0			c.G1019A						.						47	51	50					19																	12995769		2203	4300	6503	SO:0001583	missense	10661	exon3			TGGCAGCGGAAGG	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.1019G>A	19.37:g.12995769C>T	ENSP00000264834:p.Arg340His	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	265	5	NM_006563	0	0	0	0	0	Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026680	0.93518	.	.	ENSG00000105610	ENST00000264834	T	0.18174	2.23	4.9	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184593	0.26919	N	0.021823	T	0.11580	0.0282	L	0.32530	0.975	0.30586	N	0.761968	B	0.30686	0.29	B	0.29862	0.108	T	0.04307	-1.0961	10	0.56958	D	0.05	.	5.4295	0.16446	0.0:0.6806:0.208:0.1114	.	340	Q13351	KLF1_HUMAN	H	340	ENSP00000264834:R340H	ENSP00000264834:R340H	R	-	2	0	KLF1	12856769	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.889000	0.56212	2.557000	0.86248	0.561000	0.74099	CGC	.		0.647	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		T	12995769	C	T	12995769	3	4	52	1	0	0	0	0	1	0	0	0	8364	768	27	1	73	1	KLF1	19	12995769	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	15718	12995769	46133214	576	11227											
FARSA	2193	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13035057	13035057	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaagacccccgagtttccGacctccacccacttcttcag	7	18	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:13035057G>A	ENST00000314606.4	-	12	1314	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	FARSA_ENST00000423140.2_Silent_p.V401V|FARSA_ENST00000588025.1_Silent_p.V472V	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	432					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCGAGTTTCCGACCTCCACCC	0.607																																					p.V432V		.											.	FARSA-91	0			c.C1296T						.						75	78	77					19																	13035057		2203	4300	6503	SO:0001819	synonymous_variant	2193	exon12			GTTTCCGACCTCC	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1296C>T	19.37:g.13035057G>A		Somatic	105	1		WXS	Illumina GAIIx	Phase_I	188	65	NM_004461	0	0	110	161	51	B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	CCDS12287.1																																																																																			.		0.607	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13035057	G	A	13035057	2	1	52	1	0	0	0	0	0	0	0	1	5701	1045	37	1		1	FARSA	19	13035057	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	39288	13035057	46093926	577	11228											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	52	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2098869	15133926	43995057	578	11229											
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	15292567	15292567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggaggcaggagcaggaaAaggagcccacgccgtcttgg	17	10	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:15292567A>G	ENST00000263388.2	-	17	2687	c.2612T>C	c.(2611-2613)tTt>tCt	p.F871S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	871	EGF-like 22; 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)			GGAGCAGGAAAAGGAGCCCAC	0.667																																					p.F871S		.											.	NOTCH3-855	0			c.T2612C						.						36	31	33					19																	15292567		2190	4290	6480	SO:0001583	missense	4854	exon17			CAGGAAAAGGAGC	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.2612T>C	19.37:g.15292567A>G	ENSP00000263388:p.Phe871Ser	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	422	31	NM_000435	0	0	1	1	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705493	0.68615	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.93547	-3.24	5.45	4.44	0.53790	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32970	N	0.005427	D	0.95962	0.8685	M	0.78049	2.395	0.49299	D	0.999773	D;D	0.89917	0.999;1.0	D;D	0.87578	0.97;0.998	D	0.95385	0.8476	10	0.72032	D	0.01	.	9.9987	0.41916	0.9195:0.0:0.0805:0.0	.	822;871	Q59FL3;Q9UM47	.;NOTC3_HUMAN	S	871;821	ENSP00000263388:F871S	ENSP00000263388:F871S	F	-	2	0	NOTCH3	15153567	0.997000	0.39634	0.801000	0.32222	0.542000	0.35054	3.615000	0.54167	0.932000	0.37266	0.459000	0.35465	TTT	.		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15292567	A	G	15292567	3	3	52	1	0	0	0	0	1	0	0	0	10589	14	1	4	4421	4	NOTCH3	19	15292567	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	158641	15292567	43836416	579	11230											
BRD4	23476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15355539	15355539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcttctgctccctcccGgggtgccccttcttttttga	7	16	3	1	rs201923211		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:15355539G>A	ENST00000263377.2	-	12	2414	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	731					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.P731P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTCCCTCCCGGGGTGCCCCT	0.582			T	C15orf55	lethal midline carcinoma of young people																																p.P731P		.		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4-767	1	Substitution - coding silent(1)	lung(1)	c.C2193T						.						146	142	143					19																	15355539		2203	4300	6503	SO:0001819	synonymous_variant	23476	exon12			CCTCCCGGGGTGC	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2193C>T	19.37:g.15355539G>A		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	213	72	NM_058243	0	0	14	23	9	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																			.		0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		A	15355539	G	A	15355539	2	1	52	1	0	0	0	0	0	0	0	1	1508	1103	39	1		1	BRD4	19	15355539	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	62972	15355539	43773444	580	11231											
CYP4F8	11283	broad.mit.edu;bcgsc.ca	37	chr19	15740063	15740063	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcctggcgctcacgctGctgcgcttccgcatcctgcc	12	17	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:15740063G>A	ENST00000441682.2	+	0	1519							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGCTCACGCTGCTGCGCTTCC	0.642																																					.		.											.	CYP4F8-90	0			.						.						54	52	53					19																	15740063		2202	4300	6502			11283	.			CACGCTGCTGCGC	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15740063G>A		Somatic	216	0		WXS	Illumina GAIIx	Phase_I	361	12	.	0	0	1	1	0		RNA	SNP	ENST00000441682.2	37																																																																																				.		0.642	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		A	15740063	G	A	15740063	1	1	52	0	1	0	0	0	0	0	0	0	4200	1306	46	3		3	CYP4F8	19	15740063	RNA	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	384524	15740063	43388920	581	11232											
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccgagcgcacgctggcctCtgtgtgcgccctgctggtgt	15	15	1	0	rs17710707	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5	5	5		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	12	7	NM_018174	0	0	4	9	5	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		G	17837425	C	G	17837425	3	3	52	1	0	0	0	0	1	0	0	0	9272	913	32	3	1250	3	MAP1S	19	17837425	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2097362	17837425	41291558	582	11233											
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	17945987	17945987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagccaggagcaccttcCgggcagagacattgccatgg	13	14	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:17945987C>T	ENST00000527670.1	-	14	1981	c.1952G>A	c.(1951-1953)cGg>cAg	p.R651Q	JAK3_ENST00000534444.1_Missense_Mutation_p.R651Q|JAK3_ENST00000458235.1_Missense_Mutation_p.R651Q			P52333	JAK3_HUMAN	Janus kinase 3	651	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			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)	GAGCACCTTCCGGGCAGAGAC	0.602		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.R651Q		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	JAK3-2418	0			c.G1952A						.						33	36	35					19																	17945987		2203	4300	6503	SO:0001583	missense	3718	exon15			ACCTTCCGGGCAG	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.1952G>A	19.37:g.17945987C>T	ENSP00000432511:p.Arg651Gln	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	145	13	NM_000215	0	0	6	6	0	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488093	0.64074	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87334	-2.24;-2.24;-2.24	5.1	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000017	T	0.81297	0.4793	L	0.52266	1.64	0.36834	D	0.887027	P;P	0.49783	0.928;0.792	B;B	0.42462	0.388;0.182	D	0.83950	0.0316	10	0.87932	D	0	-35.1193	4.6177	0.12435	0.0:0.7275:0.0:0.2725	.	651;651	P52333-2;P52333	.;JAK3_HUMAN	Q	651	ENSP00000391676:R651Q;ENSP00000432511:R651Q;ENSP00000436421:R651Q	ENSP00000391676:R651Q	R	-	2	0	JAK3	17806987	1.000000	0.71417	0.998000	0.56505	0.259000	0.26198	5.758000	0.68776	2.366000	0.80165	0.555000	0.69702	CGG	.		0.602	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17945987	C	T	17945987	3	4	52	1	0	0	0	0	1	0	0	0	7966	652	23	1	1462	1	JAK3	19	17945987	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	108562	17945987	41182996	583	11234											
ATP13A1	57130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	19770410	19770410	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaatcaaggactcacTtgttgctcccaaatttcttc	6	12	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:19770410T>G	ENST00000357324.6	-	3	703	c.677A>C	c.(676-678)aAg>aCg	p.K226T	ATP13A1_ENST00000291503.5_Splice_Site_p.K108T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	226						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						AAGGACTCACTTGTTGCTCCC	0.517																																					p.K226T	Esophageal Squamous(142;920 1789 9047 14684 24777)	.											.	ATP13A1-138	0			c.A677C						.						54	59	57					19																	19770410		2203	4300	6503	SO:0001630	splice_region_variant	57130	exon3			ACTCACTTGTTGC	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.677+1A>C	19.37:g.19770410T>G		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	192	23	NM_020410	0	0	0	0	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	T	8.716	0.913121	0.17907	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88818	-2.43;-2.43	4.55	3.52	0.40303	.	0.110450	0.64402	D	0.000013	T	0.80433	0.4622	L	0.28776	0.89	0.80722	D	1	B;B	0.19817	0.034;0.039	B;B	0.23150	0.01;0.044	T	0.69187	-0.5211	9	.	.	.	-15.647	8.4892	0.33089	0.0:0.0959:0.0:0.9041	.	226;108	Q9HD20;Q9HD20-2	AT131_HUMAN;.	T	108;226	ENSP00000291503:K108T;ENSP00000349877:K226T	.	K	-	2	0	ATP13A1	19631410	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	1.833000	0.39161	0.589000	0.29677	0.533000	0.62120	AAG	.		0.517	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	Missense_Mutation	G	19770410	T	G	19770410	5	3	52	1	0	0	0	0	0	0	1	0	1124	1623	56	5	3033	5	ATP13A1	19	19770410	Splice_Site	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1824423	19770410	39358573	584	11235											
PLEKHF1	79156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	30165469	30165469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcccatctgcggagcGtccagtggagatgacgatga	15	12	1	3	rs143273878		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:30165469G>A	ENST00000436066.3	+	2	1189	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PLEKHF1_ENST00000592810.1_Silent_p.A241A	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	241					apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TCTGCGGAGCGTCCAGTGGAG	0.721																																					p.A241A		.											.	PLEKHF1-226	0			c.G723A						.						16	15	16					19																	30165469		2190	4287	6477	SO:0001819	synonymous_variant	79156	exon2			CGGAGCGTCCAGT	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.723G>A	19.37:g.30165469G>A		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	89	25	NM_024310	0	0	4	8	4	Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	CCDS12417.1																																																																																			G|0.999;T|0.001		0.721	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		A	30165469	G	A	30165469	2	1	52	1	0	0	0	0	0	0	0	1	12105	1132	40	1		1	PLEKHF1	19	30165469	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10395059	30165469	28963514	585	11236											
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	31769263	31769263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtttctcgtcagtgaccGctttctccttgtcgacttcc	8	13	3	1	rs572265018		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:31769263G>A	ENST00000240587.4	-	2	1763	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	479					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCAGTGACCGCTTTCTCCTT	0.493													G|||	1	0.000199681	0	0	5008	,	,		19637	0		0.001	False		,,,				2504	0				p.A479V		.											.	TSHZ3-232	0			c.C1436T						.						181	182	182					19																	31769263		2203	4300	6503	SO:0001583	missense	57616	exon2			GTGACCGCTTTCT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1436C>T	19.37:g.31769263G>A	ENSP00000240587:p.Ala479Val	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	155	25	NM_020856	0	0	3	3	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	1.405	-0.577181	0.03854	.	.	ENSG00000121297	ENST00000240587	T	0.32515	1.45	5.55	-3.52	0.04682	.	0.451188	0.24436	N	0.038560	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28235	-1.0050	10	0.19147	T	0.46	-6.0722	7.4848	0.27425	0.5295:0.2716:0.199:0.0	.	479	Q63HK5	TSH3_HUMAN	V	479	ENSP00000240587:A479V	ENSP00000240587:A479V	A	-	2	0	TSHZ3	36461103	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.463000	0.06696	-0.144000	0.11314	0.655000	0.94253	GCG	.		0.493	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31769263	G	A	31769263	3	1	52	1	0	0	0	0	1	0	0	0	16673	1087	38	1	1813	1	TSHZ3	19	31769263	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1603794	31769263	27359720	586	11237											
DMKN	93099	ucsc.edu;bcgsc.ca	37	chr19	35991471	35991471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtttctgcagtgatgaCgcgtccgcaccctgaaagga	12	12	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:35991471C>T	ENST00000339686.3	-	12	1427	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	DMKN_ENST00000480502.1_Silent_p.A111A|DMKN_ENST00000419602.1_Silent_p.A406A|DMKN_ENST00000429837.1_Silent_p.A376A|DMKN_ENST00000402589.2_Silent_p.A130A|DMKN_ENST00000414866.2_Silent_p.A130A|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000443640.1_Silent_p.A180A|DMKN_ENST00000602781.1_Silent_p.A130A|DMKN_ENST00000472252.2_Silent_p.A64A|DMKN_ENST00000408915.2_Silent_p.A31A|DMKN_ENST00000467637.1_Silent_p.A142A|DMKN_ENST00000436012.1_Silent_p.A113A|DMKN_ENST00000492341.2_Silent_p.A64A	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	417						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGTGATGACGCGTCCGCAC	0.627																																					p.A417A		.											.	DMKN-155	0			c.G1251A						.						79	52	61					19																	35991471		2203	4300	6503	SO:0001819	synonymous_variant	93099	exon12			TGATGACGCGTCC	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.1251G>A	19.37:g.35991471C>T		Somatic	126	2		WXS	Illumina GAIIx	Phase_I	174	68	NM_033317	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.508|3.508	-0.100459|-0.100459	0.06967|0.06967	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000443857|ENST00000434389	.|.	.|.	.|.	3.79|3.79	-3.65|-3.65	0.04502|0.04502	.|.	.|.	.|.	.|.	.|.	T|T	0.21103|0.21103	0.0508|0.0508	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30446|0.30446	-0.9978|-0.9978	4|4	.|.	.|.	.|.	9.6883|9.6883	4.769|4.769	0.13146|0.13146	0.0:0.4377:0.2947:0.2676|0.0:0.4377:0.2947:0.2676	.|.	.|.	.|.	.|.	H|I	121|128	.|.	.|.	R|V	-|-	2|1	0|0	DMKN|DMKN	40683311|40683311	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-2.911000|-2.911000	0.00698|0.00698	-0.607000|-0.607000	0.05738|0.05738	-2.491000|-2.491000	0.00194|0.00194	CGT|GTC	.		0.627	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	35991471	C	T	35991471	2	4	52	1	0	0	0	0	0	0	0	1	4596	523	19	1		1	DMKN	19	35991471	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4222208	35991471	23137512	587	11238											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	36218685	36218686	+	Frame_Shift_Del	DEL	TG	TG	-													gaggatggccactacaagtcTgtggtgagtggtacaccagg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:36218685_36218686delTG	ENST00000222270.7	+	17	4389_4390	c.4389_4390delTG	c.(4387-4392)tctgtgfs	p.V1464fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.V1464fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1464					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)										ACTACAAGTCTGTGGTGAGTGG	0.604																																					p.1463_1464del		.											.	MLL4-697	0			c.4389_4390del						.																																			SO:0001589	frameshift_variant	8085	exon17			CAAGTCTGTGGTG	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.4389_4390delTG	19.37:g.36218687_36218688delTG	ENSP00000222270:p.Val1464fs	Somatic	259	0		WXS	Illumina GAIIx	Phase_I	264	39	NM_014727	0	0	0	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.604	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		-	36218686	TG	-	36218685	7	5	52	1	0	1	0	1	0	0	0	0	9661	1567	55	0	4455	0	MLL4	19	36218685	Frame_Shift_Del	DEL	TG	TCGA-OR-A5LJ-01A-11D-A29I-10	227214	36218685	22910298	588	11239											
MLL4	9757	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	36229230	36229230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactttgatgtagtggaCgccacgatgcatggcaatgc	13	8	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:36229230C>T	ENST00000222270.7	+	37	7920	c.7920C>T	c.(7918-7920)gaC>gaT	p.D2640D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.D2640D|IGFLR1_ENST00000587101.1_5'Flank	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										ATGTAGTGGACGCCACGATGC	0.582																																					p.D2640D		.											.	MLL4-697	0			c.C7920T						.						77	85	82					19																	36229230		2196	4297	6493	SO:0001819	synonymous_variant	8085	exon37			AGTGGACGCCACG	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.7920C>T	19.37:g.36229230C>T		Somatic	161	2		WXS	Illumina GAIIx	Phase_I	229	84	NM_014727	0	0	60	116	56	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36229230	C	T	36229230	2	4	52	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MLL4	19	36229230	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10545	36229230	22899753	589	11240											
KIRREL2	84063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:36357214delC	ENST00000360202.5	+	15	2145	c.1947delC	c.(1945-1947)gtcfs	p.V649fs	APLP1_ENST00000221891.4_5'Flank|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000592409.1_Frame_Shift_Del_p.V614fs|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	649	Pro-rich.				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)			TGGGCATGGTCCCCCCCTGCA	0.627																																					p.V649fs		.											.	KIRREL2-93	0			c.1947delC						.						86	88	88					19																	36357214		2203	4300	6503	SO:0001589	frameshift_variant	84063	exon15			CATGGTCCCCCCC	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.1947delC	19.37:g.36357214delC	ENSP00000353331:p.Val649fs	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	32	18	NM_199180	0	0	0	0	0	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Frame_Shift_Del	DEL	ENST00000360202.5	37	CCDS12481.1																																																																																			.		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		-	36357214	C	-	36357214	7	5	52	1	0	1	0	1	0	0	0	0	8352	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	127984	36357214	22771769	590	11241											
ZNF793	390927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	38028650	38028650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attggagaactcacacaggaGagaagccctatgggtgcaat	12	8	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:38028650G>C	ENST00000587143.1	+	6	1325	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.E364Q|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Missense_Mutation_p.E364Q			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACAGGAGAGAAGCCCTA	0.448																																					p.E364Q	Melanoma(44;400 1431 1499 19093)	.											.	ZNF793-68	0			c.G1090C						.						65	73	70					19																	38028650		2155	4290	6445	SO:0001583	missense	390927	exon8			ACAGGAGAGAAGC	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1090G>C	19.37:g.38028650G>C	ENSP00000468605:p.Glu364Gln	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	95	9	NM_001013659	0	0	1	1	0	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642592	0.67244	.	.	ENSG00000188227	ENST00000542455;ENST00000445217	T;T	0.25912	1.77;1.77	3.95	3.95	0.45737	.	.	.	.	.	T	0.41166	0.1147	L	0.48174	1.505	0.31637	N	0.648306	D	0.71674	0.998	P	0.62885	0.908	T	0.41502	-0.9505	8	.	.	.	.	15.2562	0.73588	0.0:0.0:1.0:0.0	.	364	E9PGN4	.	Q	364	ENSP00000444355:E364Q;ENSP00000396402:E364Q	.	E	+	1	0	ZNF793	42720490	1.000000	0.71417	0.993000	0.49108	0.904000	0.53231	3.844000	0.55873	2.172000	0.68678	0.650000	0.86243	GAG	.		0.448	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		C	38028650	G	C	38028650	3	2	52	1	0	0	0	0	1	0	0	0	18213	943	33	3	1104	3	ZNF793	19	38028650	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1671436	38028650	21100333	591	11242											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	38609984	38609985	+	Frame_Shift_Ins	INS	-	-	C													aaagacgctcctcctttcggINScccccccatccccagtggaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:38609984_38609985insC	ENST00000222345.6	+	9	2839_2840	c.2330_2331insC	c.(2329-2334)ggccccfs	p.GP777fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.G777A(1)		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)			CCTCCTTTCGGCCCCCCCATCC	0.535																																					p.G777fs		.											.	SIPA1L3-91	1	Substitution - Missense(1)	kidney(1)	c.2330_2331insC						.																																			SO:0001589	frameshift_variant	23094	exon9			CTTTCGGCCCCCC	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.2337dupC	19.37:g.38609991_38609991dupC	ENSP00000222345:p.Gly777fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	85	35	NM_015073	0	0	0	0	0	Q2TV87	Frame_Shift_Ins	INS	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.535	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38609985	-	C	38609984	7	5	52	1	0	1	1	0	0	0	0	0	14376	1203	42	0	2356	0	SIPA1L3	19	38609984	Frame_Shift_Ins	INS	-	TCGA-OR-A5LJ-01A-11D-A29I-10	581334	38609984	20518999	592	11243											
SPINT2	10653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38780794	38780794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagtcactgggccttgcCgtgcatccttcccacgctgg	11	16	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:38780794C>T	ENST00000301244.7	+	5	862	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	SPINT2_ENST00000454580.3_Missense_Mutation_p.R86C|SPINT2_ENST00000587090.1_Missense_Mutation_p.R93C|CTB-102L5.4_ENST00000591889.1_Silent_p.A20A	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	143	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond. {ECO:0000250}.			cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGCCTTGCCGTGCATCCTT	0.547																																					p.R143C		.											.	SPINT2-90	0			c.C427T						.						77	71	73					19																	38780794		2203	4300	6503	SO:0001583	missense	10653	exon5			CCTTGCCGTGCAT	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.427C>T	19.37:g.38780794C>T	ENSP00000301244:p.Arg143Cys	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	172	99	NM_021102	0	0	22	32	10	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794482	0.70452	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.58940	0.3;0.3	5.55	5.55	0.83447	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.64402	D	0.000012	D	0.84737	0.5538	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89917	0.4056	10	0.87932	D	0	.	15.0009	0.71469	0.0:1.0:0.0:0.0	.	86;143	B4DLU1;O43291	.;SPIT2_HUMAN	C	143;86	ENSP00000301244:R143C;ENSP00000389788:R86C	ENSP00000301244:R143C	R	+	1	0	SPINT2	43472634	1.000000	0.71417	0.998000	0.56505	0.090000	0.18270	2.280000	0.43443	2.620000	0.88729	0.655000	0.94253	CGT	.		0.547	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			T	38780794	C	T	38780794	3	4	52	1	0	0	0	0	1	0	0	0	15116	652	23	1	445	1	SPINT2	19	38780794	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	170810	38780794	20348189	593	11244											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39018344	39018344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaccggggcgtcccgggtCgcgaggaggacgccgatgac	18	12	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:39018344C>T	ENST00000359596.3	+	73	10744	c.10744C>T	c.(10744-10746)Cgc>Tgc	p.R3582C	RYR1_ENST00000360985.3_Missense_Mutation_p.R3582C|RYR1_ENST00000355481.4_Missense_Mutation_p.R3577C|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3582					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)	CGTCCCGGGTCGCGAGGAGGA	0.667																																					p.R3582C		.											.	RYR1-100	0			c.C10744T						.						41	43	42					19																	39018344		2203	4300	6503	SO:0001583	missense	6261	exon73			CCGGGTCGCGAGG	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.10744C>T	19.37:g.39018344C>T	ENSP00000352608:p.Arg3582Cys	Somatic	237	1		WXS	Illumina GAIIx	Phase_I	244	119	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.075919	0.20227	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97016	-4.21;-4.21;-4.21	4.69	4.69	0.59074	.	0.093499	0.39985	U	0.001204	D	0.96543	0.8872	M	0.65498	2.005	0.45046	D	0.998068	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.56700	0.804;0.804;0.642	D	0.96266	0.9195	10	0.87932	D	0	.	10.2413	0.43314	0.3111:0.6889:0.0:0.0	.	3582;3577;3582	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	3582;3577;3582;502	ENSP00000352608:R3582C;ENSP00000347667:R3577C;ENSP00000354254:R3582C	ENSP00000347667:R3577C	R	+	1	0	RYR1	43710184	0.942000	0.31987	1.000000	0.80357	0.229000	0.25112	2.889000	0.48601	2.425000	0.82216	0.467000	0.42956	CGC	.		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39018344	C	T	39018344	3	4	52	1	0	0	0	0	1	0	0	0	13813	884	31	1	11034	1	RYR1	19	39018344	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	237550	39018344	20110639	594	11245											
PLEKHG2	64857	hgsc.bcm.edu;bcgsc.ca	37	chr19	39905656	39905656	+	Frame_Shift_Del	DEL	C	C	-													tgcagcccccaccatggcctCcccccgaggttctgggagct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:39905656delC	ENST00000409794.3	+	3	984	c.134delC	c.(133-135)tccfs	p.S45fs	PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.S45fs|PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S45fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S45fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	45					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)			ACCATGGCCTCCCCCCGAGGT	0.652																																					p.S45fs		.											.	PLEKHG2-274	0			c.134delC						.						9	9	9					19																	39905656		2161	4229	6390	SO:0001589	frameshift_variant	64857	exon3			TGGCCTCCCCCCG	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.134delC	19.37:g.39905656delC	ENSP00000386733:p.Ser45fs	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	176	76	NM_022835	0	0	0	0	0	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	CCDS33022.2																																																																																			.		0.652	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		-	39905656	C	-	39905656	7	5	52	1	0	1	0	1	0	0	0	0	12108	855	30	0	140	0	PLEKHG2	19	39905656	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	887312	39905656	19223327	595	11246											
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	40368454	40368454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaagctctcaggtggCacatgagcatggcaggtggt	15	7	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:40368454C>T	ENST00000221347.6	-	28	12901	c.12894G>A	c.(12892-12894)gtG>gtA	p.V4298V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4298						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)			TCTCAGGTGGCACATGAGCAT	0.622																																					p.V4298V		.											.	FCGBP-98	0			c.G12894A						.						108	105	106					19																	40368454		2203	4298	6501	SO:0001819	synonymous_variant	8857	exon28			AGGTGGCACATGA	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.12894G>A	19.37:g.40368454C>T		Somatic	360	0		WXS	Illumina GAIIx	Phase_I	399	56	NM_003890	0	0	0	0	0	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																			.		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368454	C	T	40368454	2	4	52	1	0	0	0	0	0	0	0	1	5800	697	25	3		3	FCGBP	19	40368454	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	462798	40368454	18760529	596	11247											
PSMC4	5704	bcgsc.ca	37	chr19	40486359	40486359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaggttgacttggaagActgtatcctgctccagaagt	13	7	0	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:40486359A>T	ENST00000157812.2	+	9	1283	c.1085A>T	c.(1084-1086)gAc>gTc	p.D362V	PSMC4_ENST00000455878.2_Missense_Mutation_p.D331V	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	362					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)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GACTTGGAAGACTGTATCCTG	0.507																																					p.D362V	Colon(105;1478 1543 4034 6132 38638)	.											.	PSMC4-91	0			c.A1085T						.						96	101	99					19																	40486359		2203	4300	6503	SO:0001583	missense	5704	exon9			TGGAAGACTGTAT	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1085A>T	19.37:g.40486359A>T	ENSP00000157812:p.Asp362Val	Somatic	72	2		WXS	Illumina GAIIx	Phase_I	90	39	NM_006503	0	0	3	4	1	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	a	19.29	3.799260	0.70567	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94650	-3.48;-3.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	L	0.54965	1.715	0.80722	D	1	B;D	0.64830	0.077;0.994	B;D	0.66716	0.098;0.946	D	0.96304	0.9223	10	0.87932	D	0	-31.6301	13.6481	0.62294	1.0:0.0:0.0:0.0	.	331;362	P43686-2;P43686	.;PRS6B_HUMAN	V	362;331	ENSP00000157812:D362V;ENSP00000413869:D331V	ENSP00000157812:D362V	D	+	2	0	PSMC4	45178199	1.000000	0.71417	0.977000	0.42913	0.656000	0.38851	8.975000	0.93437	2.107000	0.64212	0.459000	0.35465	GAC	.		0.507	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		T	40486359	A	T	40486359	3	4	52	1	0	0	0	0	1	0	0	0	12731	275	10	5	1119	5	PSMC4	19	40486359	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	117905	40486359	18642624	597	11248											
LTBP4	8425	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41132999	41132999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccttaccagggcctcCcatatgggcctgagttgtac	10	14	0	1	rs368212304		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:41132999C>T	ENST00000308370.7	+	32	4303	c.4303C>T	c.(4303-4305)Cca>Tca	p.P1435S	LTBP4_ENST00000396819.3_Missense_Mutation_p.P1368S|LTBP4_ENST00000545697.1_Missense_Mutation_p.P803S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1398S|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1436	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGGCCTCCCATATGGGCC	0.662																																					.		.											.	LTBP4-93	0			.						.	C	SER/PRO,SER/PRO,SER/PRO	1,3941		0,1,1970	34	41	39		4305,4104,4194	4.6	1	19		39	0,8304		0,0,4152	no	missense,missense,missense	LTBP4	NM_001042544.1,NM_001042545.1,NM_003573.2	74,74,74	0,1,6122	TT,TC,CC		0.0,0.0254,0.0082	probably-damaging,probably-damaging,probably-damaging	1436/1625,1369/1558,1399/1588	41132999	1,12245	1971	4152	6123	SO:0001583	missense	8425	.			GGCCTCCCATATG	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4303C>T	19.37:g.41132999C>T	ENSP00000311905:p.Pro1435Ser	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	105	43	.	0	0	31	60	29	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837787	0.71373	2.54E-4	0.0	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83837	-1.37;-1.77;-1.38;-1.36	4.58	4.58	0.56647	.	0.000000	0.36740	N	0.002421	D	0.86785	0.6016	.	.	.	0.45899	D	0.998745	D;D;D;D;D;P	0.61697	0.982;0.982;0.99;0.99;0.99;0.948	P;D;P;P;P;P	0.63033	0.873;0.91;0.868;0.868;0.868;0.588	D	0.83429	0.0037	9	0.17832	T	0.49	.	14.3917	0.66983	0.0:1.0:0.0:0.0	.	196;448;656;1368;1436;1398	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	S	1398;803;1435;1368;196	ENSP00000204005:P1398S;ENSP00000441054:P803S;ENSP00000311905:P1435S;ENSP00000380031:P1368S	ENSP00000204005:P1398S	P	+	1	0	LTBP4	45824839	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	3.040000	0.49799	2.371000	0.80710	0.462000	0.41574	CCA	.		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		T	41132999	C	T	41132999	3	4	52	1	0	0	0	0	1	0	0	0	9111	623	22	3	4720	3	LTBP4	19	41132999	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	646640	41132999	17995984	598	11249											
ADCK4	79934	broad.mit.edu	37	chr19	41211038	41211038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgaagtcggcgctctggCggacccgctcaaagatgtgc	14	12	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:41211038C>T	ENST00000324464.3	-	7	840	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000450541.1_Missense_Mutation_p.R139H|ADCK4_ENST00000243583.6_Missense_Mutation_p.R139H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	180						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)			GGCGCTCTGGCGGACCCGCTC	0.632																																					p.R180H		.											.	ADCK4-319	0			c.G539A						.						35	33	34					19																	41211038		2203	4300	6503	SO:0001583	missense	79934	exon7			CTCTGGCGGACCC	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.539G>A	19.37:g.41211038C>T	ENSP00000315118:p.Arg180His	Somatic	189	0		WXS	Illumina GAIIx	Phase_I	171	6	NM_024876	0	0	17	17	0	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298867	0.95574	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.75260	-0.92;-0.5;-0.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.88871	0.3333	10	0.87932	D	0	-16.3173	17.1591	0.86799	0.0:1.0:0.0:0.0	.	180;139	Q96D53;Q96D53-2	ADCK4_HUMAN;.	H	180;139;139	ENSP00000315118:R180H;ENSP00000412839:R139H;ENSP00000243583:R139H	ENSP00000243583:R139H	R	-	2	0	ADCK4	45902878	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.548000	0.82154	2.342000	0.79632	0.561000	0.74099	CGC	.		0.632	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		T	41211038	C	T	41211038	3	4	52	1	0	0	0	0	1	0	0	0	290	768	27	1	1131	1	ADCK4	19	41211038	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	78039	41211038	17917945	599	11250											
ITPKC	80271	broad.mit.edu;bcgsc.ca	37	chr19	41245300	41245300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgtgcacgaccacacCggcctggccaaggtctggat	11	15	2	0	rs376988971		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:41245300C>T	ENST00000263370.2	+	7	1920	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	C19orf54_ENST00000594163.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	629					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACGACCACACCGGCCTGGCCA	0.652																																					p.T629T		.											.	ITPKC-115	0			c.C1887T						.	C		0,4406		0,0,2203	50	40	44		1887	-9.4	0.7	19		44	1,8599		0,1,4299	no	coding-synonymous	ITPKC	NM_025194.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		629/684	41245300	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80271	exon7			CCACACCGGCCTG	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1887C>T	19.37:g.41245300C>T		Somatic	274	0		WXS	Illumina GAIIx	Phase_I	326	9	NM_025194	0	0	5	5	0	Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	CCDS12563.1																																																																																			.		0.652	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		T	41245300	C	T	41245300	2	4	52	1	0	0	0	0	0	0	0	1	7946	639	23	1		1	ITPKC	19	41245300	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	34262	41245300	17883683	600	11251											
GRIK5	2901	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42525580	42525580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaggatgtgggggcGtgcccgcaggcatgggtgtg	19	9	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:42525580G>A	ENST00000262895.3	-	14	1743	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GRIK5_ENST00000301218.4_Missense_Mutation_p.R582C|GRIK5_ENST00000593562.1_Missense_Mutation_p.R582C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	582					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)	p.R582C(2)		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)				ATGTGGGGGCGTGCCCGCAGG	0.652																																					p.R582C		.											.	GRIK5-90	2	Substitution - Missense(2)	prostate(2)	c.C1744T						.						35	29	31					19																	42525580		2203	4300	6503	SO:0001583	missense	2901	exon14			GGGGGCGTGCCCG		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.1744C>T	19.37:g.42525580G>A	ENSP00000262895:p.Arg582Cys	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	74	6	NM_002088	0	0	15	16	1	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194809	0.58017	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.14022	2.59;2.54	4.51	4.51	0.55191	Ionotropic glutamate receptor (2);	0.153806	0.42821	D	0.000644	T	0.24353	0.0590	L	0.32530	0.975	0.45621	D	0.99855	D	0.89917	1.0	D	0.70016	0.967	T	0.01114	-1.1447	10	0.62326	D	0.03	.	11.8849	0.52596	0.0:0.0:0.8248:0.1752	.	582	Q16478	GRIK5_HUMAN	C	582	ENSP00000262895:R582C;ENSP00000301218:R582C	ENSP00000262895:R582C	R	-	1	0	GRIK5	47217420	0.846000	0.29590	0.903000	0.35520	0.645000	0.38454	1.338000	0.33873	2.055000	0.61198	0.563000	0.77884	CGC	.		0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42525580	G	A	42525580	3	1	52	1	0	0	0	0	1	0	0	0	6804	1145	40	1	1222	1	GRIK5	19	42525580	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1280280	42525580	16603403	601	11252											
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	42914843	42914843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccggctccagccccagCgcctgctcccgtacaccggc	12	20	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:42914843C>T	ENST00000244289.4	-	2	1311	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	345					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCAGCCCCAGCGCCTGCTCCC	0.667																																					p.A345A		.											.	LIPE-154	0			c.G1035A						.						20	20	20					19																	42914843		2202	4296	6498	SO:0001819	synonymous_variant	3991	exon2			CCCCAGCGCCTGC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1035G>A	19.37:g.42914843C>T		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	171	39	NM_005357	0	0	5	6	1	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																			.		0.667	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42914843	C	T	42914843	2	4	52	1	0	0	0	0	0	0	0	1	8851	755	27	1		1	LIPE	19	42914843	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	389263	42914843	16214140	602	11253											
PSG6	5675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43411758	43411758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggttactgcGgatgccaccatatcggtccc	13	12	0	1	rs200244036		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:43411758G>A	ENST00000292125.2	-	4	999	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.R319C	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	319	Ig-like C2-type 2.				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)				GGGTTACTGCGGATGCCACCA	0.502													.|||	1	0.000199681	0	0	5008	,	,		21082	0		0.001	False		,,,				2504	0				p.R319C		.											.	PSG6-92	0			c.C955T						.						154	137	143					19																	43411758		2202	4298	6500	SO:0001583	missense	5675	exon4			TACTGCGGATGCC		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.955C>T	19.37:g.43411758G>A	ENSP00000292125:p.Arg319Cys	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	156	65	NM_001031850	0	0	0	0	0	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	11.17	1.559258	0.27827	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12774	2.65;2.65	1.42	-2.83	0.05769	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24890	0.0604	M	0.78285	2.405	0.09310	N	1	D;B	0.76494	0.999;0.004	P;B	0.60473	0.875;0.017	T	0.12268	-1.0554	9	0.51188	T	0.08	.	2.0346	0.03537	0.3133:0.0:0.4236:0.263	.	319;319	Q00889;Q00889-2	PSG6_HUMAN;.	C	319	ENSP00000187910:R319C;ENSP00000292125:R319C	ENSP00000187910:R319C	R	-	1	0	PSG6	48103598	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.926000	0.03988	-0.461000	0.06993	0.134000	0.15878	CGC	.		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		A	43411758	G	A	43411758	3	1	52	1	0	0	0	0	1	0	0	0	12701	1116	39	1	403	1	PSG6	19	43411758	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	496915	43411758	15717225	603	11254											
PVR	5817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	45157249	45157249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccctgacctgcgatgctCgcagcaacccagagcccaca	8	19	0	2	rs3745145		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:45157249C>T	ENST00000425690.3	+	4	1104	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PVR_ENST00000403059.4_Missense_Mutation_p.R269C|PVR_ENST00000344956.4_Missense_Mutation_p.R269C|PVR_ENST00000406449.4_Missense_Mutation_p.R269C|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	269	Ig-like C2-type 2.				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)		CTGCGATGCTCGCAGCAACCC	0.572																																					p.R269C		.											.	PVR-90	0			c.C805T						.						87	91	90					19																	45157249		2203	4300	6503	SO:0001583	missense	5817	exon4			GATGCTCGCAGCA	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.805C>T	19.37:g.45157249C>T	ENSP00000402060:p.Arg269Cys	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	87	50	NM_001135769	0	0	23	48	25	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082989	0.36758	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.72	3.68	0.42216	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.969853	0.08443	N	0.945130	T	0.46678	0.1405	M	0.81682	2.555	0.22156	N	0.999325	D;D;D;D	0.71674	0.998;0.996;0.997;0.998	P;D;D;D	0.66847	0.884;0.94;0.938;0.947	T	0.15723	-1.0427	10	0.59425	D	0.04	.	8.9702	0.35901	0.0:0.8953:0.0:0.1046	.	269;269;269;269	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	C	269	ENSP00000340870:R269C;ENSP00000402060:R269C;ENSP00000383907:R269C;ENSP00000385344:R269C	ENSP00000340870:R269C	R	+	1	0	PVR	49849089	0.000000	0.05858	0.554000	0.28268	0.314000	0.28054	0.620000	0.24403	1.132000	0.42129	0.591000	0.81541	CGC	C|0.161;G|0.839		0.572	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		T	45157249	C	T	45157249	3	4	52	1	0	0	0	0	1	0	0	0	12882	884	31	1	819	1	PVR	19	45157249	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1745491	45157249	13971734	604	11255											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	7	NM_000400	0	0	6	10	4	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	52	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	710010	45867259	13261724	605	11256											
GPR4	2828	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	46094248	46094248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggccacatcgctgcgggCgccctcgttgaccaggcagt	13	15	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:46094248C>T	ENST00000323040.4	-	2	1821	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	293					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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCGCTGCGGGCGCCCTCGTTG	0.632																																					p.A293T	Esophageal Squamous(117;181 1612 1673 14956 42937)	.											.	GPR4-92	0			c.G877A						.						54	54	54					19																	46094248		2203	4300	6503	SO:0001583	missense	2828	exon2			TGCGGGCGCCCTC	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.877G>A	19.37:g.46094248C>T	ENSP00000319744:p.Ala293Thr	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	163	79	NM_005282	0	0	43	58	15	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927527	0.18056	.	.	ENSG00000177464	ENST00000323040	T	0.37058	1.22	4.53	2.41	0.29592	.	0.078682	0.48286	N	0.000182	T	0.12646	0.0307	N	0.08118	0	0.37324	D	0.909669	P	0.38504	0.634	B	0.22753	0.041	T	0.19976	-1.0289	10	0.19590	T	0.45	.	8.6885	0.34251	0.0:0.8124:0.0:0.1876	.	293	P46093	GPR4_HUMAN	T	293	ENSP00000319744:A293T	ENSP00000319744:A293T	A	-	1	0	GPR4	50786088	0.498000	0.26075	0.936000	0.37596	0.908000	0.53690	1.178000	0.31981	0.547000	0.28938	0.455000	0.32223	GCC	.		0.632	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094248	C	T	46094248	3	4	52	1	0	0	0	0	1	0	0	0	6720	768	27	1	215	1	GPR4	19	46094248	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	226989	46094248	13034735	606	11257											
DMWD	1762	hgsc.bcm.edu	37	chr19	46289542	46289544	+	In_Frame_Del	DEL	CTC	CTC	-													cctgtgcccgcagcctcgggCtcctcctcctcctcttcgcc							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CTC	CTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:46289542_46289544delCTC	ENST00000270223.6	-	3	1255_1257	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E404del	DMWD_ENST00000377735.3_In_Frame_Del_p.E404del|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	404										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCCTCGGGCTCCTCCTCCTCC	0.695																																					p.404_404del		.											.	DMWD-90	0			c.1210_1212del						.																																			SO:0001651	inframe_deletion	1762	exon3			CTCGGGCTCCTCC	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1210_1212delGAG	19.37:g.46289551_46289553delCTC	ENSP00000270223:p.Glu404del	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	197	80	NM_004943	0	0	0	0	0		In_Frame_Del	DEL	ENST00000270223.6	37	CCDS33054.1																																																																																			.		0.695	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		-	46289544	CTC	-	46289542	7	5	52	1	0	1	0	1	0	0	0	0	4607	796	28	0	824	0	DMWD	19	46289542	In_Frame_Del	DEL	CTC	TCGA-OR-A5LJ-01A-11D-A29I-10	195294	46289542	12839441	607	11258											
STRN4	29888	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	47236402	47236402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactcggctccactgcccCgttgagctccagcgagcggc	11	17	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:47236402C>T	ENST00000263280.6	-	5	680	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Missense_Mutation_p.G211R|STRN4_ENST00000539396.1_Missense_Mutation_p.G92R	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	211						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCCACTGCCCCGTTGAGCTCC	0.662																																					p.G211R		.											.	STRN4-90	0			c.G631A						.						46	41	43					19																	47236402		2203	4300	6503	SO:0001583	missense	29888	exon5			CTGCCCCGTTGAG	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.631G>A	19.37:g.47236402C>T	ENSP00000263280:p.Gly211Arg	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	73	6	NM_001039877	0	0	38	40	2	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897766	0.52227	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.68181	-0.29;-0.31;-0.14	4.71	3.68	0.42216	.	0.127453	0.53938	D	0.000056	T	0.74520	0.3727	M	0.70595	2.14	0.54753	D	0.999986	D;P	0.59357	0.985;0.78	P;B	0.61592	0.891;0.106	T	0.71728	-0.4505	10	0.13470	T	0.59	-29.6975	12.0376	0.53433	0.0:0.9143:0.0:0.0856	.	211;211	F8VYA6;Q9NRL3	.;STRN4_HUMAN	R	211;211;92;92	ENSP00000375777:G211R;ENSP00000263280:G211R;ENSP00000440901:G92R	ENSP00000263280:G211R	G	-	1	0	STRN4	51928242	1.000000	0.71417	0.991000	0.47740	0.038000	0.13279	5.245000	0.65405	1.197000	0.43143	0.561000	0.74099	GGG	.		0.662	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			T	47236402	C	T	47236402	3	4	52	1	0	0	0	0	1	0	0	0	15378	652	23	1	1703	1	STRN4	19	47236402	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	946860	47236402	11892581	608	11259											
ARHGAP35	2909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47423998	47423998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtccacgctgggccggcGggataatcatttagtccatc	12	11	1	1	rs142807428		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:47423998G>A	ENST00000404338.3	+	1	2066	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	689					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)										CTGGGCCGGCGGGATAATCAT	0.458													G|||	1	0.000199681	0	0	5008	,	,		19691	0		0.001	False		,,,				2504	0				p.R689Q		.											.	.	0			c.G2066A						.						27	27	27					19																	47423998		1936	4133	6069	SO:0001583	missense	2909	exon1			GCCGGCGGGATAA	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.2066G>A	19.37:g.47423998G>A	ENSP00000385720:p.Arg689Gln	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	119	51	NM_004491	0	0	2	5	3	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.36	1.617103	0.28801	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.07800	3.16	5.88	5.88	0.94601	.	0.101126	0.64402	D	0.000003	T	0.12050	0.0293	M	0.61703	1.905	0.42825	D	0.994002	P	0.49783	0.928	B	0.42462	0.388	T	0.01312	-1.1388	10	0.41790	T	0.15	-20.6565	12.3464	0.55124	0.0779:0.0:0.9221:0.0	.	689	Q9NRY4-2	.	Q	689	ENSP00000385720:R689Q	ENSP00000324820:R689Q	R	+	2	0	ARHGAP35	52115838	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	5.782000	0.68973	2.785000	0.95823	0.650000	0.86243	CGG	G|0.999;A|0.000		0.458	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47423998	G	A	47423998	3	1	52	1	0	0	0	0	1	0	0	0	6822	1116	39	1	2068	1	ARHGAP35	19	47423998	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	187596	47423998	11704985	609	11260											
ZC3H4	23211	broad.mit.edu;bcgsc.ca	37	chr19	47597799	47597799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctctcaggccctccGgaggtatcctgggtctcctc	11	16	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:47597799G>A	ENST00000253048.5	-	3	265	c.228C>T	c.(226-228)tcC>tcT	p.S76S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	76							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S76S(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGCCCTCCGGAGGTATCCT	0.522																																					p.S76S		.											.	ZC3H4-74	1	Substitution - coding silent(1)	endometrium(1)	c.C228T						.						241	243	242					19																	47597799		1924	4131	6055	SO:0001819	synonymous_variant	23211	exon3			CCCTCCGGAGGTA	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.228C>T	19.37:g.47597799G>A		Somatic	199	1		WXS	Illumina GAIIx	Phase_I	240	11	NM_015168	0	0	1	1	0	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																			.		0.522	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47597799	G	A	47597799	2	1	52	1	0	0	0	0	0	0	0	1	17618	1103	39	1		1	ZC3H4	19	47597799	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	173801	47597799	11531184	610	11261											
FAM83E	54854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	49107038	49107038	+	Frame_Shift_Del	DEL	G	G	-													acctatgaccgagggtttctGggggggcgcaggtgggagcg					rs560890077	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:49107038delG	ENST00000263266.3	-	4	1078	c.889delC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAGGGTTTCTGGGGGGGCGCA	0.721																																					p.Q297fs		.											.	FAM83E-91	0			c.889delC						.			26,13,3701		0,0,26,5,3,1836						-3.4	0			12	19,26,7747		0,0,19,8,10,3859	no	codingComplex	FAM83E	NM_017708.3		0,0,45,13,13,5695	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5775,1.0428,0.7284				45,39,11448				SO:0001589	frameshift_variant	54854	exon4			GTTTCTGGGGGGG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.889delC	19.37:g.49107038delG	ENSP00000263266:p.Gln297fs	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	117	57	NM_017708	0	0	0	0	0	Q9NXK1	Frame_Shift_Del	DEL	ENST00000263266.3	37	CCDS42587.1																																																																																			.		0.721	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		-	49107038	G	-	49107038	7	5	52	1	0	1	0	1	0	0	0	0	5659	1357	47	0	555	0	FAM83E	19	49107038	Frame_Shift_Del	DEL	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1509239	49107038	10021945	611	11262											
RASIP1	54922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49238683	49238683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagacaagttttctgagcGctccttgcctccagacccag	8	14	1	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:49238683G>A	ENST00000222145.4	-	4	1153	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	317					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TTTTCTGAGCGCTCCTTGCCT	0.697																																					p.R317C		.											.	RASIP1-228	0			c.C949T						.						12	11	11					19																	49238683		2197	4294	6491	SO:0001583	missense	54922	exon4			CTGAGCGCTCCTT	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.949C>T	19.37:g.49238683G>A	ENSP00000222145:p.Arg317Cys	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	189	92	NM_017805	0	0	18	29	11	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647495	0.67358	.	.	ENSG00000105538	ENST00000222145	T	0.07327	3.2	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.50333	1.59	0.50632	D	0.999889	D	0.62365	0.991	P	0.48654	0.585	T	0.00279	-1.1853	10	0.87932	D	0	-4.0032	14.4879	0.67629	0.0:0.0:1.0:0.0	.	317	Q5U651	RAIN_HUMAN	C	317	ENSP00000222145:R317C	ENSP00000222145:R317C	R	-	1	0	RASIP1	53930495	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.258000	0.43249	2.571000	0.86741	0.511000	0.50034	CGC	.		0.697	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		A	49238683	G	A	49238683	3	1	52	1	0	0	0	0	1	0	0	0	13123	1087	38	1	1978	1	RASIP1	19	49238683	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	131645	49238683	9890300	612	11263											
DHDH	27294	bcgsc.ca	37	chr19	49445795	49445795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctccaacacggcctccGtgagcggcaccaagggcatg	12	15	1	1	rs140363616		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:49445795G>A	ENST00000221403.2	+	5	758	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.V101M	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	240					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)		CACGGCCTCCGTGAGCGGCAC	0.622																																					p.V240M		.											.	DHDH-90	0			c.G718A						.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	59	53	55		718	2.7	0.2	19	dbSNP_134	55	0,8600		0,0,4300	no	missense	DHDH	NM_014475.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/335	49445795	1,13005	2203	4300	6503	SO:0001583	missense	27294	exon5			GCCTCCGTGAGCG	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.718G>A	19.37:g.49445795G>A	ENSP00000221403:p.Val240Met	Somatic	247	5		WXS	Illumina GAIIx	Phase_I	264	129	NM_014475	0	0	4	5	1		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970319	0.34754	2.27E-4	0.0	ENSG00000104808	ENST00000221403;ENST00000523250	T;T	0.27557	1.66;1.66	4.84	2.69	0.31865	.	0.135555	0.51477	D	0.000092	T	0.50990	0.1648	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.50841	-0.8780	10	0.87932	D	0	-38.281	4.428	0.11513	0.1825:0.0:0.6377:0.1798	.	240	Q9UQ10	DHDH_HUMAN	M	240;101	ENSP00000221403:V240M;ENSP00000428935:V101M	ENSP00000221403:V240M	V	+	1	0	DHDH	54137607	1.000000	0.71417	0.201000	0.23476	0.064000	0.16182	5.568000	0.67385	0.755000	0.32990	0.484000	0.47621	GTG	G|1.000;A|0.000		0.622	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		A	49445795	G	A	49445795	3	1	52	1	0	0	0	0	1	0	0	0	4493	1145	40	1	736	1	DHDH	19	49445795	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	207112	49445795	9683188	613	11264											
TRPM4	54795	hgsc.bcm.edu	37	chr19	49699770	49699770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgggttgctgcgggggcCgctgcggggggcgccggtgc	23	12	0	0	rs113100797|rs369602287|rs555341136		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:49699770C>T	ENST00000252826.5	+	17	2410	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R408C|TRPM4_ENST00000427978.2_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	762					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGCGGGGGCCGCTGCGGGGG	0.711													C|||	1	0.000199681	0	0	5008	,	,		9864	0		0	False		,,,				2504	0.001				p.R762C		.											.	TRPM4-91	0			c.C2284T						.						5	6	6					19																	49699770		1981	3893	5874	SO:0001583	missense	54795	exon17			GGGGGCCGCTGCG	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2284C>T	19.37:g.49699770C>T	ENSP00000252826:p.Arg762Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_017636	0	0	0	1	1	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	0.837	-0.743382	0.03088	.	.	ENSG00000130529	ENST00000252826;ENST00000355712	D;D	0.82803	-1.65;-1.65	.	.	.	.	.	.	.	.	T	0.68504	0.3008	N	0.02202	-0.64	0.09310	N	1	D;D;D	0.59767	0.976;0.986;0.978	P;P;B	0.58210	0.689;0.835;0.136	T	0.60816	-0.7188	7	0.52906	T	0.07	.	.	.	.	.	408;588;762	B4DIX5;Q8TD43-2;Q8TD43	.;.;TRPM4_HUMAN	C	762;408	ENSP00000252826:R762C;ENSP00000347944:R408C	ENSP00000252826:R762C	R	+	1	0	TRPM4	54391582	0.001000	0.12720	0.038000	0.18304	0.011000	0.07611	0.140000	0.16056	-1.258000	0.02471	-1.243000	0.01532	CGC	.		0.711	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		T	49699770	C	T	49699770	3	4	52	1	0	0	0	0	1	0	0	0	16636	652	23	1	2350	1	TRPM4	19	49699770	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	253975	49699770	9429213	614	11265											
FUZ	80199	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	50311889	50311889	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagttccaggtggaggagCagcagcctgtgggaaaggga	17	7	1	0	rs374092791		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:50311889C>G	ENST00000313777.4	-	9	1063	c.900G>C	c.(898-900)ctG>ctC	p.L300L	FUZ_ENST00000445575.2_Silent_p.L300L|FUZ_ENST00000528094.1_Silent_p.L264L|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Silent_p.L250L|FUZ_ENST00000534008.1_5'Flank	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	300	Leu-rich.				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)		GGTGGAGGAGCAGCAGCCTGT	0.632																																					p.L300L		.											.	FUZ-90	0			c.G900C						.						48	44	45					19																	50311889		2203	4297	6500	SO:0001819	synonymous_variant	80199	exon9			GAGGAGCAGCAGC	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.900G>C	19.37:g.50311889C>G		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	122	66	NM_025129	0	0	0	2	2	B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	ENST00000313777.4	37	CCDS12781.1																																																																																			.		0.632	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		G	50311889	C	G	50311889	2	3	52	1	0	0	0	0	0	0	0	1	6136	697	25	3		3	FUZ	19	50311889	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	612119	50311889	8817094	615	11266											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	20	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		Somatic	39	1		WXS	Illumina GAIIx	Phase_I	97	25	NM_007254	0	0	33	33	0	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		C	50370408	T	C	50370408	2	2	52	1	0	0	0	0	0	0	0	1	12186	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	58519	50370408	8758575	616	11267											
ZNF845	91664	broad.mit.edu	37	chr19	53856028	53856028	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgagtgtggcaagaccttCggtcgaaattcagcccttat	10	9	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:53856028C>T	ENST00000595091.1	+	5	2319	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	ZNF845_ENST00000458035.1_Silent_p.F700F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	700				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCAAGACCTTCGGTCGAAATT	0.438																																					p.F700F		.											.	.	0			c.C2100T						.						97	95	95					19																	53856028		692	1591	2283	SO:0001819	synonymous_variant	91664	exon4			GACCTTCGGTCGA	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2100C>T	19.37:g.53856028C>T		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	98	3	NM_138374	0	0	0	0	0		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																			.		0.438	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		T	53856028	C	T	53856028	2	4	52	1	0	0	0	0	0	0	0	1	18239	883	31	1		1	ZNF845	19	53856028	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	3485620	53856028	5272955	617	11268											
LILRB4	11006	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55177714	55177714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacaggctgatttccaaCgtcctccaggggctgccgag	13	12	0	2	rs201125273	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:55177714C>T	ENST00000391736.1	+	10	1213	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	LILRB4_ENST00000391734.3_Missense_Mutation_p.R300C|LILRB4_ENST00000270452.2_Missense_Mutation_p.R300C|LILRB4_ENST00000430952.2_Missense_Mutation_p.R300C|LILRB4_ENST00000391733.3_Missense_Mutation_p.R300C	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	300					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGATTTCCAACGTCCTCCAGG	0.587													C|||	8	0.00159744	0	0	5008	,	,		14724	0		0.008	False		,,,				2504	0				p.R300C		.											.	LILRB4-93	0			c.C898T						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	66	63	64		898,898	-0.5	0	19		64	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	180,180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	300/448,300/449	55177714	4,13002	2203	4300	6503	SO:0001583	missense	11006	exon8			TTCCAACGTCCTC	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.898C>T	19.37:g.55177714C>T	ENSP00000375616:p.Arg300Cys	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	136	62	NM_006847	0	0	4	4	0	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	C	11.66	1.705413	0.30232	0.0	4.65E-4	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00492	7.08;7.08;7.08;7.01;7.1;7.06	1.77	-0.465	0.12157	.	.	.	.	.	T	0.00412	0.0013	L	0.42245	1.32	0.09310	N	1	D;D;D;B;D	0.76494	0.999;0.975;0.993;0.034;0.999	P;B;P;B;P	0.52881	0.619;0.366;0.712;0.005;0.519	T	0.53662	-0.8407	9	0.39692	T	0.17	.	3.9773	0.09479	0.0:0.5741:0.0:0.4259	.	300;299;300;300;300	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	C	300;300;300;300;300;299	ENSP00000375616:R300C;ENSP00000270452:R300C;ENSP00000408995:R300C;ENSP00000375614:R300C;ENSP00000375613:R300C;ENSP00000401962:R299C	ENSP00000270452:R300C	R	+	1	0	LILRB4	59869526	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-0.448000	0.06820	-0.064000	0.13043	0.407000	0.27541	CGT	C|0.997;T|0.003		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55177714	C	T	55177714	3	4	52	1	0	0	0	0	1	0	0	0	8822	536	19	1	928	1	LILRB4	19	55177714	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1321686	55177714	3951269	618	11269											
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55494012	55494012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagaagccggtgcccGtcctcctggggagtttgctg	15	10	0	3	rs561774583		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:55494012G>A	ENST00000543010.1	+	6	1089	c.946G>A	c.(946-948)Gtc>Atc	p.V316I	NLRP2_ENST00000537859.1_Missense_Mutation_p.V294I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V313I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V292I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V293I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V292I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V294I|NLRP2_ENST00000448584.2_Missense_Mutation_p.V316I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	316	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCGGTGCCCGTCCTCCTGGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		17190	0		0	False		,,,				2504	0.001				p.V316I		.											.	NLRP2-120	0			c.G946A						.						46	43	44					19																	55494012		2203	4300	6503	SO:0001583	missense	55655	exon6			GTGCCCGTCCTCC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.946G>A	19.37:g.55494012G>A	ENSP00000445135:p.Val316Ile	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	129	53	NM_017852	0	0	0	0	0	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363564	0.41902	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	1.55	-2.03	0.07365	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.79329	0.4427	L	0.52759	1.655	0.09310	N	1	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.998;0.998	D;D;D;D;D	0.72338	0.936;0.961;0.977;0.912;0.977	T	0.67558	-0.5640	9	0.22109	T	0.4	.	6.3559	0.21400	0.6687:0.0:0.3313:0.0	.	293;294;313;292;316	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	I	316;292;294;316;294;293;292;313	ENSP00000445135:V316I;ENSP00000375601:V292I;ENSP00000344074:V294I;ENSP00000409370:V316I;ENSP00000440601:V294I;ENSP00000402474:V293I;ENSP00000441133:V292I;ENSP00000263437:V313I	ENSP00000263437:V313I	V	+	1	0	NLRP2	60185824	0.000000	0.05858	0.002000	0.10522	0.192000	0.23643	-1.068000	0.03447	-0.512000	0.06505	0.485000	0.47835	GTC	.		0.637	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55494012	G	A	55494012	3	1	52	1	0	0	0	0	1	0	0	0	10516	1145	40	1	964	1	NLRP2	19	55494012	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	316298	55494012	3634971	619	11270											
TNNT1	7138	broad.mit.edu	37	chr19	55656925	55656925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcaccttggtttggggcGttcctcttctgttggtggtg	13	9	3	0	rs139279150	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:55656925G>A	ENST00000588981.1	-	6	319	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	TNNT1_ENST00000587758.1_Missense_Mutation_p.R28C|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587465.2_De_novo_Start_OutOfFrame|TNNT1_ENST00000291901.8_Missense_Mutation_p.R39C|TNNT1_ENST00000356783.5_Missense_Mutation_p.R28C|TNNT1_ENST00000585321.2_De_novo_Start_OutOfFrame|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	39					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGTTTGGGGCGTTCCTCTTCT	0.542																																					p.R39C		.											.	TNNT1-91	0			c.C115T						.						161	168	165					19																	55656925		2203	4300	6503	SO:0001583	missense	7138	exon6			TGGGGCGTTCCTC		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.115C>T	19.37:g.55656925G>A	ENSP00000467176:p.Arg39Cys	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_001126132	0	0	0	0	0	O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018054	0.54576	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000429737	D;D	0.98849	-5.18;-5.18	3.72	3.72	0.42706	.	0.532644	0.16444	N	0.214174	D	0.98451	0.9484	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.973;0.988;0.988;0.973	D	0.98696	1.0698	10	0.87932	D	0	-10.4465	13.8205	0.63318	0.0:0.0:1.0:0.0	.	39;28;39;39	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	C	39;28;54	ENSP00000291901:R39C;ENSP00000349233:R28C	ENSP00000291901:R39C	R	-	1	0	TNNT1	60348737	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.075000	0.57584	2.006000	0.58801	0.590000	0.80494	CGC	G|1.000;T|0.000		0.542	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		A	55656925	G	A	55656925	3	1	52	1	0	0	0	0	1	0	0	0	16377	1145	40	1	757	1	TNNT1	19	55656925	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	162913	55656925	3472058	620	11271											
CCDC106	29903	broad.mit.edu	37	chr19	56162847	56162847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggaagcccaaggcccGggagaggcagcgaggtgagt	18	9	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:56162847G>A	ENST00000586790.1	+	4	1416	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000588740.1_Missense_Mutation_p.R171Q|CCDC106_ENST00000591241.1_Missense_Mutation_p.R136Q|CCDC106_ENST00000308964.3_Missense_Mutation_p.R171Q|CCDC106_ENST00000591578.1_Missense_Mutation_p.R171Q			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	171						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCCAAGGCCCGGGAGAGGCAG	0.667																																					p.R171Q		.											.	CCDC106-90	0			c.G512A						.						23	19	20					19																	56162847		2183	4285	6468	SO:0001583	missense	29903	exon5			AGGCCCGGGAGAG	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.512G>A	19.37:g.56162847G>A	ENSP00000465757:p.Arg171Gln	Somatic	195	0		WXS	Illumina GAIIx	Phase_I	330	8	NM_013301	0	0	1	1	0	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845349	0.91197	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.3	4.3	0.51218	.	0.000000	0.64402	D	0.000002	T	0.66025	0.2748	L	0.40543	1.245	0.47374	D	0.999408	D	0.89917	1.0	D	0.69307	0.963	T	0.63382	-0.6650	9	0.29301	T	0.29	-0.0561	15.9464	0.79796	0.0:0.0:1.0:0.0	.	171	Q9BWC9	CC106_HUMAN	Q	171	.	ENSP00000309681:R171Q	R	+	2	0	CCDC106	60854659	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.592000	0.67543	2.113000	0.64589	0.655000	0.94253	CGG	.		0.667	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		A	56162847	G	A	56162847	3	1	52	1	0	0	0	0	1	0	0	0	2748	1116	39	1	526	1	CCDC106	19	56162847	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	505922	56162847	2966136	621	11272											
ZNF470	388566	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	57088962	57088964	+	In_Frame_Del	DEL	TAT	TAT	-													ctcttatacgtcatcggcgaTattatcatactggagagaaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TAT	TAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:57088962_57088964delTAT	ENST00000330619.8	+	6	1851_1853	c.1165_1167delTAT	c.(1165-1167)tatdel	p.Y390del	ZNF470_ENST00000391709.3_In_Frame_Del_p.Y390del|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	390					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.Y389*(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCATCGGCGATATTATCATACTG	0.414																																					p.389_389del		.											.	ZNF470-92	1	Substitution - Nonsense(1)	skin(1)	c.1165_1167del						.			3,4261		1,1,2130						-4.5	0			86	1,8251		0,1,4125	no	coding	ZNF470	NM_001001668.3		1,2,6255	A1A1,A1R,RR		0.0121,0.0704,0.032				4,12512				SO:0001651	inframe_deletion	388566	exon6			CGGCGATATTATC	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1165_1167delTAT	19.37:g.57088965_57088967delTAT	ENSP00000333223:p.Tyr390del	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	161	57	NM_001001668	0	0	0	0	0	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	In_Frame_Del	DEL	ENST00000330619.8	37	CCDS33122.1																																																																																			.		0.414	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		-	57088964	TAT	-	57088962	7	5	52	1	0	1	0	1	0	0	0	0	17977	1406	49	0	1179	0	ZNF470	19	57088962	In_Frame_Del	DEL	TAT	TCGA-OR-A5LJ-01A-11D-A29I-10	926115	57088962	2040021	622	11273											
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	57328441	57328441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactgaacgacctcccacActcatcacatacatatggca	5	15	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:57328441A>G	ENST00000326441.9	-	10	1732	c.1369T>C	c.(1369-1371)Tgt>Cgt	p.C457R	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C457R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C331R|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C333R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	457					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GACCTCCCACACTCATCACAT	0.483																																					p.C457R		.											.	PEG3-164	0			c.T1369C						.						204	177	186					19																	57328441		2203	4300	6503	SO:0001583	missense	5178	exon9			TCCCACACTCATC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1369T>C	19.37:g.57328441A>G	ENSP00000326581:p.Cys457Arg	Somatic	321	1		WXS	Illumina GAIIx	Phase_I	398	193	NM_001146184	0	0	0	7	7	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974142	0.74246	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	D;D	0.99925	-8.03;-8.03	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000114	D	0.99935	0.9971	H	0.95917	3.74	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95889	0.8905	9	0.87932	D	0	-29.6813	12.4261	0.55548	1.0:0.0:0.0:0.0	.	333;457;392	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	457;457;427	ENSP00000326581:C457R;ENSP00000403051:C457R	ENSP00000292074:C427R	C	-	1	0	ZIM2	62020253	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.756000	0.85195	2.098000	0.63641	0.528000	0.53228	TGT	.		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57328441	A	G	57328441	3	3	52	1	0	0	0	0	1	0	0	0	11759	159	6	4	3401	4	PEG3	19	57328441	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	239479	57328441	1800542	623	11274											
ZNF419	79744	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	58002904	58002904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatggagattgcttgatgaCgctcagaggctcctctaccg	12	10	2	4	rs540265152		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:58002904C>T	ENST00000221735.7	+	3	324	c.138C>T	c.(136-138)gaC>gaT	p.D46D	ZNF419_ENST00000520540.1_Silent_p.D34D|ZNF419_ENST00000424930.2_Silent_p.D47D|ZNF419_ENST00000518999.1_Silent_p.D47D|ZNF419_ENST00000347466.6_Silent_p.D47D|ZNF419_ENST00000442920.2_Silent_p.D33D|ZNF419_ENST00000426954.2_Silent_p.D34D|AC003005.4_ENST00000601674.1_Silent_p.D33D|ZNF419_ENST00000415379.2_Silent_p.D33D|ZNF419_ENST00000354197.4_Silent_p.D34D			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCTTGATGACGCTCAGAGGC	0.527													c|||	1	0.000199681	0	0	5008	,	,		19039	0		0	False		,,,				2504	0.001				p.D47D		.											.	ZNF419-90	0			c.C141T						.						147	141	143					19																	58002904		2203	4298	6501	SO:0001819	synonymous_variant	79744	exon3			TGATGACGCTCAG	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.138C>T	19.37:g.58002904C>T		Somatic	268	0		WXS	Illumina GAIIx	Phase_I	379	122	NM_001098494	0	0	7	9	2	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	ENST00000221735.7	37	CCDS54326.1																																																																																			.		0.527	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		T	58002904	C	T	58002904	2	4	52	1	0	0	0	0	0	0	0	1	17944	535	19	1		1	ZNF419	19	58002904	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	674463	58002904	1126079	624	11275											
ZNF814	730051	ucsc.edu	37	chr19	58385033	58385033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattctccacacccataAgatctttctctagggtgaac	5	14	3	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:58385033A>G	ENST00000435989.2	-	3	1959	c.1725T>C	c.(1723-1725)tcT>tcC	p.S575S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	575					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACACCCATAAGATCTTTCTC	0.463																																					p.S575S		.											.	.	0			c.T1725C						.						99	79	85					19																	58385033		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			CCCATAAGATCTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1725T>C	19.37:g.58385033A>G		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	113	1	NM_001144989	0	0	4	6	2	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.463	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58385033	A	G	58385033	2	3	52	1	0	0	0	0	0	0	0	1	18224	59	3	4		4	ZNF814	19	58385033	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	382129	58385033	743950	625	11276											
ZSCAN22	342945	bcgsc.ca	37	chr19	58846516	58846516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccagagtcccaagagCggagaggaagccgctgtgct	16	11	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:58846516C>T	ENST00000329665.4	+	2	495	c.348C>T	c.(346-348)agC>agT	p.S116S		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	116	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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCCAAGAGCGGAGAGGAAG	0.622																																					p.S116S		.											.	ZSCAN22-91	0			c.C348T						.						27	28	27					19																	58846516		2203	4300	6503	SO:0001819	synonymous_variant	342945	exon2			CAAGAGCGGAGAG	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.348C>T	19.37:g.58846516C>T		Somatic	164	3		WXS	Illumina GAIIx	Phase_I	207	86	NM_181846	0	0	1	1	0	Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	CCDS12975.1																																																																																			.		0.622	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		T	58846516	C	T	58846516	2	4	52	1	0	0	0	0	0	0	0	1	18282	767	27	1		1	ZSCAN22	19	58846516	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	461483	58846516	282467	626	11277											
ZBTB45	84878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	59028363	59028363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggccctcgcctgggccGccaccttcgccatcctcgcc	10	22	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr19:59028363G>A	ENST00000594051.1	-	2	1158	c.678C>T	c.(676-678)ggC>ggT	p.G226G	ZBTB45_ENST00000354590.3_Silent_p.G226G|ZBTB45_ENST00000600990.1_Silent_p.G226G			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGCCTGGGCCGCCACCTTCGC	0.657											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G226G	NSCLC(164;1383 2017 5233 27540 46677)	.											.	ZBTB45-90	0			c.C678T						.						184	191	188					19																	59028363		2202	4299	6501	SO:0001819	synonymous_variant	84878	exon2			TGGGCCGCCACCT	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.678C>T	19.37:g.59028363G>A		Somatic	158	0	1035	WXS	Illumina GAIIx	Phase_I	224	29	NM_032792	0	0	8	10	2		Silent	SNP	ENST00000594051.1	37	CCDS12984.1																																																																																			.		0.657	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		A	59028363	G	A	59028363	2	1	52	1	0	0	0	0	0	0	0	1	17594	1074	38	1		1	ZBTB45	19	59028363	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	181847	59028363	100620	627	11278											
TCF15	6939	hgsc.bcm.edu	37	chr20	590456	590456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcactgcccgcggcAcggaagcacggctgcccgtc	13	18	0	0	rs282164	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7	8	8		426	-9	0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_004609	0	0	0	1	1	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		G	590456	A	G	590456	2	3	52	1	0	0	0	0	0	0	0	1	15735	146	6	4		4	TCF15	20	590456	Silent	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10		590456	62435064	628	11279											
C20orf194	25943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3275220	3275220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaactttagggaactccGtttctccccagcaggctggc	11	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:3275220G>A	ENST00000252032.9	-	24	2141	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	C20orf194_ENST00000453730.2_Missense_Mutation_p.R430W|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	692										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGGGAACTCCGTTTCTCCCCA	0.473																																					p.R692W		.											.	C20orf194-68	0			c.C2074T						.						66	65	65					20																	3275220		1868	4102	5970	SO:0001583	missense	25943	exon24			AACTCCGTTTCTC	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.2074C>T	20.37:g.3275220G>A	ENSP00000252032:p.Arg692Trp	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	68	24	NM_001009984	0	0	1	1	0	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124329	0.37533	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.31510	2.23;1.49	5.21	-5.25	0.02781	.	0.867849	0.10612	N	0.654348	T	0.10809	0.0264	N	0.02539	-0.55	0.20074	N	0.999939	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30119	-0.9989	10	0.40728	T	0.16	.	10.2742	0.43499	0.729:0.1225:0.1484:0.0	.	431;692	Q0IIP3;Q5TEA3	.;CT194_HUMAN	W	692;430	ENSP00000252032:R692W;ENSP00000407229:R430W	ENSP00000252032:R692W	R	-	1	2	C20orf194	3223220	0.032000	0.19561	0.042000	0.18584	0.986000	0.74619	-0.364000	0.07583	-0.684000	0.05183	0.563000	0.77884	CGG	.		0.473	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		A	3275220	G	A	3275220	3	1	52	1	0	0	0	0	1	0	0	0	2106	1144	40	1	1515	1	C20orf194	20	3275220	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2684764	3275220	59750300	629	11280											
GFRA4	64096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3640605	3640605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtatggagagcagggagCgtctctccagggccctgcct	15	11	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:3640605C>T	ENST00000319242.3	-	5	850	c.851G>A	c.(850-852)cGc>cAc	p.R284H	GFRA4_ENST00000290417.2_Missense_Mutation_p.R254H			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	284					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						GAGCAGGGAGCGTCTCTCCAG	0.637																																					p.R284H		.											.	GFRA4-90	0			c.G851A						.						25	26	26					20																	3640605		2200	4291	6491	SO:0001583	missense	64096	exon5			AGGGAGCGTCTCT	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.851G>A	20.37:g.3640605C>T	ENSP00000313423:p.Arg284His	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	61	25	NM_145762	0	0	0	0	0	Q5JT74|Q9H191|Q9H192	Missense_Mutation	SNP	ENST00000319242.3	37	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781343	0.31502	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	4.59	-0.807	0.10872	.	3.230950	0.01092	N	0.005216	T	0.19644	0.0472	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	0.23583	-1.0184	9	0.59425	D	0.04	-1.4926	3.3612	0.07188	0.1791:0.4229:0.0:0.398	.	284;254	Q9GZZ7;Q9GZZ7-2	GFRA4_HUMAN;.	H	254;284	.	ENSP00000290417:R254H	R	-	2	0	GFRA4	3588605	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.012000	0.13287	-0.013000	0.14199	-0.150000	0.13652	CGC	.		0.637	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		T	3640605	C	T	3640605	3	4	52	1	0	0	0	0	1	0	0	0	6376	768	27	1	52	1	GFRA4	20	3640605	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	365385	3640605	59384915	630	11281											
C20orf186	149954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	31671498	31671498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagttgccactggggcGgtgggcccaggtggtttgct	18	10	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:31671498G>A	ENST00000375483.3	+	3	495	c.495G>A	c.(493-495)gcG>gcA	p.A165A		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	165	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCACTGGGGCGGTGGGCCCAG	0.677																																					p.A165A		.											.	.	0			c.G495A						.						32	35	34					20																	31671498		2203	4300	6503	SO:0001819	synonymous_variant	149954	exon3			TGGGGCGGTGGGC	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.495G>A	20.37:g.31671498G>A		Somatic	153	0		WXS	Illumina GAIIx	Phase_I	253	115	NM_182519	0	0	0	0	0	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																			.		0.677	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		A	31671498	G	A	31671498	2	1	52	1	0	0	0	0	0	0	0	1	2105	1103	39	1		1	C20orf186	20	31671498	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	28030893	31671498	31354022	631	11282											
CEP250	11190	broad.mit.edu;bcgsc.ca	37	chr20	34092645	34092645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagagcccaggctgcagCgggagctggagcggctacag	16	11	0	1	rs147676735		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:34092645C>T	ENST00000397527.1	+	30	7168	c.6448C>T	c.(6448-6450)Cgg>Tgg	p.R2150W	CEP250_ENST00000342580.4_Missense_Mutation_p.R2094W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2150	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)			CAGGCTGCAGCGGGAGCTGGA	0.567																																					p.R2150W		.											.	CEP250-27	0			c.C6448T						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	60	58		6448	1.8	0.2	20	dbSNP_134	58	0,8600		0,0,4300	no	missense	CEP250	NM_007186.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2150/2443	34092645	1,13005	2203	4300	6503	SO:0001583	missense	11190	exon30			CTGCAGCGGGAGC	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.6448C>T	20.37:g.34092645C>T	ENSP00000380661:p.Arg2150Trp	Somatic	179	2		WXS	Illumina GAIIx	Phase_I	191	11	NM_007186	0	0	8	8	0	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254638	0.39896	2.27E-4	0.0	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.44881	2.92;2.92;0.91	5.01	1.84	0.25277	.	0.725300	0.12376	N	0.474360	T	0.33904	0.0879	L	0.47716	1.5	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.32241	-0.9914	10	0.72032	D	0.01	.	7.1822	0.25778	0.1109:0.6481:0.1612:0.0799	.	2150	Q9BV73	CP250_HUMAN	W	2150;2094;638	ENSP00000380661:R2150W;ENSP00000341541:R2094W;ENSP00000395992:R638W	ENSP00000341541:R2094W	R	+	1	2	CEP250	33556059	0.996000	0.38824	0.204000	0.23530	0.455000	0.32408	0.078000	0.14761	0.696000	0.31696	-0.181000	0.13052	CGG	C|1.000;T|0.000		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34092645	C	T	34092645	3	4	52	1	0	0	0	0	1	0	0	0	3259	759	27	1	6554	1	CEP250	20	34092645	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2421147	34092645	28932875	632	11283											
DLGAP4	22839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35060497	35060497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccctccaatttccccGtggcgaggccaaggcccgtg	11	17	0	0	rs202172659		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:35060497G>A	ENST00000373907.2	+	2	576	c.377G>A	c.(376-378)cGt>cAt	p.R126H	DLGAP4_ENST00000373913.3_Missense_Mutation_p.R126H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R126H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R126H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	126					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAATTTCCCCGTGGCGAGGCC	0.637																																					p.R126H		.											.	DLGAP4-94	0			c.G377A						.	G	HIS/ARG	0,4406		0,0,2203	65	67	66		377	5.5	1	20		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP4	NM_014902.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	126/990	35060497	1,13005	2203	4300	6503	SO:0001583	missense	22839	exon2			TTCCCCGTGGCGA	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.377G>A	20.37:g.35060497G>A	ENSP00000363014:p.Arg126His	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	134	62	NM_014902	0	0	0	0	0	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.591927	0.86953	0.0	1.16E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.53	5.53	0.82687	.	0.056069	0.64402	D	0.000001	T	0.52500	0.1738	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57608	-0.7782	10	0.87932	D	0	.	18.4578	0.90727	0.0:0.0:1.0:0.0	.	126	Q9Y2H0-1	.	H	126	ENSP00000363023:R126H;ENSP00000384954:R126H;ENSP00000363014:R126H;ENSP00000341633:R126H	ENSP00000341633:R126H	R	+	2	0	DLGAP4	34493911	1.000000	0.71417	0.995000	0.50966	0.842000	0.47809	9.827000	0.99397	2.590000	0.87494	0.561000	0.74099	CGT	G|0.999;A|0.001		0.637	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35060497	G	A	35060497	3	1	52	1	0	0	0	0	1	0	0	0	4576	1145	40	1	379	1	DLGAP4	20	35060497	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	967852	35060497	27965023	633	11284											
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	37546897	37546897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatggcctccgggctcCggtcagtgcctaccagtatg	13	12	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:37546897C>T	ENST00000299824.1	+	11	1481	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P389L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	431					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTCCGGGCTCCGGTCAGTGCC	0.602																																					p.P431L		.											.	PPP1R16B-228	0			c.C1292T						.						156	151	153					20																	37546897		2203	4300	6503	SO:0001583	missense	26051	exon11			GGGCTCCGGTCAG	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1292C>T	20.37:g.37546897C>T	ENSP00000299824:p.Pro431Leu	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	219	18	NM_015568	0	0	2	2	0	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.24|18.24	3.579237|3.579237	0.65878|0.65878	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.71103|.	-0.31;-0.54|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.110120|.	0.64402|.	D|.	0.000006|.	T|T	0.61677|0.61677	0.2366|0.2366	L|L	0.40543|0.40543	1.245|1.245	0.46981|0.46981	D|D	0.999271|0.999271	B;P|.	0.40282|.	0.005;0.711|.	B;B|.	0.27170|.	0.001;0.077|.	T|T	0.56786|0.56786	-0.7921|-0.7921	10|5	0.25751|.	T|.	0.34|.	.|.	17.4517|17.4517	0.87594|0.87594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	389;431|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	L|W	431;389|332	ENSP00000299824:P431L;ENSP00000362428:P389L|.	ENSP00000299824:P431L|.	P|R	+|+	2|1	0|2	PPP1R16B|PPP1R16B	36980311|36980311	0.999000|0.999000	0.42202|0.42202	0.964000|0.964000	0.40570|0.40570	0.985000|0.985000	0.73830|0.73830	5.402000|5.402000	0.66332|0.66332	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	CCG|CGG	.		0.602	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		T	37546897	C	T	37546897	3	4	52	1	0	0	0	0	1	0	0	0	12408	652	23	1	1330	1	PPP1R16B	20	37546897	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2486400	37546897	25478623	634	11285											
PLCG1	5335	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	39795024	39795024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccacagaccaacgcccacGagagcaaagagtgagggaag	12	12	0	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:39795024G>A	ENST00000373271.1	+	17	2395	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	PLCG1_ENST00000373272.2_Missense_Mutation_p.E664K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E664K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	664					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)				CAACGCCCACGAGAGCAAAGA	0.617																																					p.E664K		.											.	PLCG1-911	0			c.G1990A						.						58	57	57					20																	39795024		2203	4300	6503	SO:0001583	missense	5335	exon17			GCCCACGAGAGCA	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.1990G>A	20.37:g.39795024G>A	ENSP00000362368:p.Glu664Lys	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	202	95	NM_182811	0	0	0	2	2	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274499	0.80580	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.93019	-3.15;-3.15;-3.15	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.961;0.992;0.915;0.915	D	0.95184	0.8302	10	0.48119	T	0.1	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	664;240;664;664	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	K	664	ENSP00000244007:E664K;ENSP00000362368:E664K;ENSP00000362369:E664K	ENSP00000244007:E664K	E	+	1	0	PLCG1	39228438	1.000000	0.71417	0.999000	0.59377	0.203000	0.24098	9.863000	0.99569	2.653000	0.90120	0.491000	0.48974	GAG	.		0.617	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39795024	G	A	39795024	3	1	52	1	0	0	0	0	1	0	0	0	12074	1059	37	1	2056	1	PLCG1	20	39795024	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2248127	39795024	23230496	635	11286											
JPH2	57158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	42815069	42815069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgccggattccgtagcGtcccttgaagccatgtgtcc	11	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:42815069G>A	ENST00000372980.3	-	1	1149	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	JPH2_ENST00000342272.3_Missense_Mutation_p.R93C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	93	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATTCCGTAGCGTCCCTTGAAG	0.597																																					p.R93C		.											.	JPH2-91	0			c.C277T						.						141	109	120					20																	42815069		2203	4300	6503	SO:0001583	missense	57158	exon1			CGTAGCGTCCCTT	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.277C>T	20.37:g.42815069G>A	ENSP00000362071:p.Arg93Cys	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	150	8	NM_175913	0	0	1	1	0	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.770050	0.69992	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.42900	0.96;0.96	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.81914	0.888;0.995	T	0.54084	-0.8346	10	0.87932	D	0	.	13.289	0.60260	0.0:0.0:0.841:0.159	.	93;93	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	C	93	ENSP00000362071:R93C;ENSP00000344590:R93C	ENSP00000344590:R93C	R	-	1	0	JPH2	42248483	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.885000	0.56182	2.096000	0.63516	0.550000	0.68814	CGC	.		0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			A	42815069	G	A	42815069	3	1	52	1	0	0	0	0	1	0	0	0	7988	1145	40	1	1848	1	JPH2	20	42815069	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3020045	42815069	20210451	636	11287											
TTPAL	79183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	43118014	43118014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacactgccacctggaaCgcggtactgctggcttcaga	12	13	1	1	rs180792442		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:43118014C>T	ENST00000372904.3	+	6	1004	c.861C>T	c.(859-861)aaC>aaT	p.N287N	TTPAL_ENST00000262605.4_Silent_p.N287N|TTPAL_ENST00000372906.2_3'UTR	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	287						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CCACCTGGAACGCGGTACTGC	0.582													C|||	1	0.000199681	0	0	5008	,	,		18640	0.001		0	False		,,,				2504	0				p.N287N		.											.	TTPAL-153	0			c.C861T						.						77	72	74					20																	43118014		2203	4300	6503	SO:0001819	synonymous_variant	79183	exon5			CTGGAACGCGGTA	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.861C>T	20.37:g.43118014C>T		Somatic	214	0		WXS	Illumina GAIIx	Phase_I	206	11	NM_001039199	0	0	5	5	0	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	CCDS13332.2																																																																																			C|0.999;T|0.000		0.582	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		T	43118014	C	T	43118014	2	4	52	1	0	0	0	0	0	0	0	1	16786	535	19	1		1	TTPAL	20	43118014	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	302945	43118014	19907506	637	11288											
PABPC1L	80336	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43559220	43559220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaccaagccactctaCgtggcactggcccagcgcaa	12	15	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:43559220C>T	ENST00000217073.2	+	8	1092	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000255136.3_Silent_p.Y364Y|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	364	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCACTCTACGTGGCACTGG	0.602																																					p.Y364Y		.											.	PABPC1L-47	0			c.C1092T						.						187	179	181					20																	43559220		1568	3582	5150	SO:0001819	synonymous_variant	80336	exon8			ACTCTACGTGGCA	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1092C>T	20.37:g.43559220C>T		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	202	87	NM_001124756	0	0	12	16	4	Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1																																																																																			.		0.602	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			T	43559220	C	T	43559220	2	4	52	1	0	0	0	0	0	0	0	1	11403	547	19	1		1	PABPC1L	20	43559220	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	441206	43559220	19466300	638	11289											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_052951	0	0	0	6	6	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	52	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	861462	44420682	18604838	639	11290											
ELMO2	63916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45023110	45023110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactttgacaatgtctgaCggtggtggcatcgttcccaa	11	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:45023110C>T	ENST00000290246.6	-	3	206	c.12G>A	c.(10-12)ccG>ccA	p.P4P	ELMO2_ENST00000396391.1_Silent_p.P4P|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Silent_p.P4P|ELMO2_ENST00000439931.2_Silent_p.P4P|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	4					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CAATGTCTGACGGTGGTGGCA	0.502																																					p.P4P		.											.	ELMO2-91	0			c.G12A						.						118	92	101					20																	45023110		2203	4300	6503	SO:0001819	synonymous_variant	63916	exon2			GTCTGACGGTGGT	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.12G>A	20.37:g.45023110C>T		Somatic	250	0		WXS	Illumina GAIIx	Phase_I	379	156	NM_182764	0	0	0	0	0	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																			.		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		T	45023110	C	T	45023110	2	4	52	1	0	0	0	0	0	0	0	1	5082	523	19	1		1	ELMO2	20	45023110	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	602428	45023110	18002410	640	11291											
SULF2	55959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	46293982	46293982	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttctggccgctttttcTtcaggtgacctcggacttcc	8	13	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:46293982T>G	ENST00000359930.4	-	14	2809	c.1958A>C	c.(1957-1959)aAg>aCg	p.K653T	SULF2_ENST00000467815.1_Missense_Mutation_p.K653T|SULF2_ENST00000484875.1_Missense_Mutation_p.K653T|SULF2_ENST00000361612.4_Missense_Mutation_p.K653T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	653					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGCTTTTTCTTCAGGTGACC	0.507																																					p.K653T		.											.	SULF2-293	0			c.A1958C						.						268	253	258					20																	46293982		2203	4300	6503	SO:0001583	missense	55959	exon14			TTTTTCTTCAGGT	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1958A>C	20.37:g.46293982T>G	ENSP00000353007:p.Lys653Thr	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	171	79	NM_001161841	0	0	66	148	82	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423869	0.83667	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81	5.15	4.05	0.47172	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	M	0.76170	2.325	0.49915	D	0.999838	D;D	0.56287	0.975;0.957	P;P	0.60682	0.878;0.855	D	0.98705	1.0702	10	0.52906	T	0.07	-18.8207	10.9467	0.47304	0.0:0.0744:0.0:0.9256	.	653;653	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	T	653;653;653;72;653	ENSP00000353007:K653T;ENSP00000418290:K653T;ENSP00000354662:K653T;ENSP00000418442:K653T	ENSP00000353007:K653T	K	-	2	0	SULF2	45727389	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.269000	0.72558	0.795000	0.33922	-0.609000	0.04063	AAG	.		0.507	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		G	46293982	T	G	46293982	3	3	52	1	0	0	0	0	1	0	0	0	15418	1609	56	5	686	5	SULF2	20	46293982	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	1270872	46293982	16731538	641	11292											
SPATA2	9825	broad.mit.edu	37	chr20	48524772	48524772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgctgaaggcgccgtGcagagcccgcaggctagagg	16	12	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:48524772G>A	ENST00000422556.1	-	2	605	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	SPATA2_ENST00000289431.5_Missense_Mutation_p.H86Y|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	86					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGGCGCCGTGCAGAGCCCGC	0.577																																					p.H86Y		.											.	SPATA2-91	0			c.C256T						.						86	81	82					20																	48524772		2203	4300	6503	SO:0001583	missense	9825	exon2			CGCCGTGCAGAGC	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.256C>T	20.37:g.48524772G>A	ENSP00000416799:p.His86Tyr	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	181	6	NM_006038	0	0	2	2	0	E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	1.671	-0.509050	0.04231	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.44482	0.92;0.92	4.72	3.76	0.43208	.	0.310848	0.34531	N	0.003881	T	0.38983	0.1061	L	0.51422	1.61	0.80722	D	1	B	0.29766	0.256	B	0.34138	0.176	T	0.31943	-0.9925	10	0.46703	T	0.11	-30.1627	11.1765	0.48603	0.0:0.1383:0.7181:0.1435	.	86	Q9UM82	SPAT2_HUMAN	Y	86	ENSP00000289431:H86Y;ENSP00000416799:H86Y	ENSP00000289431:H86Y	H	-	1	0	SPATA2	47958179	1.000000	0.71417	0.816000	0.32577	0.089000	0.18198	3.662000	0.54510	1.336000	0.45506	0.655000	0.94253	CAC	.		0.577	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		A	48524772	G	A	48524772	3	1	52	1	0	0	0	0	1	0	0	0	15052	1319	46	3	1314	3	SPATA2	20	48524772	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2230790	48524772	14500748	642	11293											
BMP7	655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	55777574	55777574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcccaggttgtgccgCggattgaccacccagtggtt	14	12	0	1	rs368039601		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:55777574C>T	ENST00000395863.3	-	3	1222	c.717G>A	c.(715-717)ccG>ccA	p.P239P	BMP7_ENST00000450594.2_Silent_p.P239P|BMP7_ENST00000395864.3_Silent_p.P239P|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	239					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)			GGTTGTGCCGCGGATTGACCA	0.637													c|||	1	0.000199681	0	0	5008	,	,		16300	0.001		0	False		,,,				2504	0				p.P239P		.											.	BMP7-187	0			c.G717A						.	T		2,4404	4.2+/-10.8	0,2,2201	50	45	47		717	-9.6	0.1	20		47	0,8600		0,0,4300	no	coding-synonymous	BMP7	NM_001719.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		239/432	55777574	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	655	exon3			GTGCCGCGGATTG		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.717G>A	20.37:g.55777574C>T		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	107	46	NM_001719	0	0	0	2	2	Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	c	9.242	1.038484	0.19669	4.54E-4	0.0	ENSG00000101144	ENST00000433911	.	.	.	4.78	-9.55	0.00569	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45775	-0.9238	4	.	.	.	.	0.7548	0.00997	0.2038:0.208:0.2733:0.315	.	.	.	.	T	161	.	.	A	-	1	0	BMP7	55210981	0.000000	0.05858	0.145000	0.22337	0.983000	0.72400	-2.617000	0.00881	-3.556000	0.00142	-0.215000	0.12644	GCG	.		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			T	55777574	C	T	55777574	2	4	52	1	0	0	0	0	0	0	0	1	1467	755	27	1		1	BMP7	20	55777574	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	7252802	55777574	7247946	643	11294											
RAE1	8480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	55931510	55931510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttactacaggttcgctgCtgggaagttcaagacagtgg	13	7	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:55931510C>T	ENST00000395841.2	+	4	624	c.204C>T	c.(202-204)tgC>tgT	p.C68C	RAE1_ENST00000371242.2_Silent_p.C68C|RAE1_ENST00000395840.2_Silent_p.C68C|RAE1_ENST00000527947.1_Silent_p.C68C	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	68					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AGGTTCGCTGCTGGGAAGTTC	0.443																																					p.C68C		.											.	RAE1-226	0			c.C204T						.						133	117	122					20																	55931510		2203	4300	6503	SO:0001819	synonymous_variant	8480	exon4			TCGCTGCTGGGAA	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.204C>T	20.37:g.55931510C>T		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	141	61	NM_003610	0	0	0	0	0	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Silent	SNP	ENST00000395841.2	37	CCDS13458.1																																																																																			.		0.443	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			T	55931510	C	T	55931510	2	4	52	1	0	0	0	0	0	0	0	1	13043	805	28	3		3	RAE1	20	55931510	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	153936	55931510	7094010	644	11295											
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggccagatcaccacggCggcagtgctggaccgtgagt	14	13	1	2	rs1051676		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:60499460C>T	ENST00000360469.5	+	11	1785	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	566	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			A -> V (in Ref. 1; AAA35627 and 6; no nucleotide entry). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCACCACGGCGGCAGTGCTG	0.612																																					p.A566V		.											.	CDH4-282	0			c.C1697T						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115	89	98		1697	4.4	0.1	20	dbSNP_86	98	0,8600		0,0,4300	no	missense	CDH4	NM_001794.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	566/917	60499460	1,13005	2203	4300	6503	SO:0001583	missense	1002	exon11			CCACGGCGGCAGT	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1697C>T	20.37:g.60499460C>T	ENSP00000353656:p.Ala566Val	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	241	96	NM_001794	0	0	1	4	3	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184831	0.01620	2.27E-4	0.0	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51071	0.72;0.72	4.44	4.44	0.53790	Cadherin (4);Cadherin-like (1);	0.170141	0.52532	D	0.000063	T	0.42404	0.1201	L	0.31476	0.935	0.34968	D	0.752891	P	0.43169	0.8	P	0.44561	0.453	T	0.53648	-0.8409	9	.	.	.	.	17.0744	0.86582	0.0:1.0:0.0:0.0	rs1051676	566	P55283	CADH4_HUMAN	V	566;474;492	ENSP00000353656:A566V;ENSP00000443301:A492V	.	A	+	2	0	CDH4	59932855	0.002000	0.14202	0.083000	0.20561	0.009000	0.06853	0.578000	0.23773	2.025000	0.59659	0.561000	0.74099	GCG	C|1.000;T|0.000		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60499460	C	T	60499460	3	4	52	1	0	0	0	0	1	0	0	0	3119	768	27	1	1739	1	CDH4	20	60499460	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4567950	60499460	2526060	645	11296											
CDH4	1002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60509119	60509119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccctcccccaggactaCgacctcagccagctgcagca	9	19	1	0	rs559494744		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:60509119C>T	ENST00000360469.5	+	15	2473	c.2385C>T	c.(2383-2385)taC>taT	p.Y795Y	CDH4_ENST00000543233.1_Silent_p.Y721Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	795					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAGGACTACGACCTCAGCC	0.677													C|||	1	0.000199681	0	0	5008	,	,		15024	0		0	False		,,,				2504	0.001				p.Y795Y		.											.	CDH4-282	0			c.C2385T						.						30	37	35					20																	60509119		2202	4297	6499	SO:0001819	synonymous_variant	1002	exon15			GGACTACGACCTC	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2385C>T	20.37:g.60509119C>T		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	181	84	NM_001794	0	0	0	0	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																			.		0.677	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60509119	C	T	60509119	2	4	52	1	0	0	0	0	0	0	0	1	3119	547	19	1		1	CDH4	20	60509119	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	9659	60509119	2516401	646	11297											
OGFR	11054	broad.mit.edu	37	chr20	61443813	61443813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacttccggccccgctgCaagttcgtctgggggcccca	13	16	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:61443813C>T	ENST00000290291.6	+	7	871	c.846C>T	c.(844-846)tgC>tgT	p.C282C	OGFR_ENST00000370461.1_Silent_p.C230C	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	282					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)					GGCCCCGCTGCAAGTTCGTCT	0.667																																					p.C282C		.											.	OGFR-68	0			c.C846T						.						9	9	9					20																	61443813		2165	4263	6428	SO:0001819	synonymous_variant	11054	exon7			CCGCTGCAAGTTC	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.846C>T	20.37:g.61443813C>T		Somatic	45	1		WXS	Illumina GAIIx	Phase_I	130	17	NM_007346	0	0	57	66	9	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																			.		0.667	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			T	61443813	C	T	61443813	2	4	52	1	0	0	0	0	0	0	0	1	10882	718	25	3		3	OGFR	20	61443813	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	934694	61443813	1581707	647	11298											
SRMS	6725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62172334	62172334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcatgatctgctgcagcGtctcgtggttggtcatccct	11	13	3	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:62172334G>A	ENST00000217188.1	-	8	1344	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTGCTGCAGCGTCTCGTGGTT	0.682																																					p.T435M		.											.	SRMS-521	0			c.C1304T						.						45	51	49					20																	62172334		2200	4291	6491	SO:0001583	missense	6725	exon8			TGCAGCGTCTCGT		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1304C>T	20.37:g.62172334G>A	ENSP00000217188:p.Thr435Met	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	75	35	NM_080823	0	0	0	0	0		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309248	0.81247	.	.	ENSG00000125508	ENST00000217188	D	0.82433	-1.61	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.102221	0.43110	D	0.000616	D	0.84316	0.5445	N	0.17838	0.53	0.37537	D	0.918161	D	0.76494	0.999	D	0.65987	0.94	D	0.88337	0.2972	10	0.87932	D	0	.	16.4576	0.84025	0.0:0.0:1.0:0.0	.	435	Q9H3Y6	SRMS_HUMAN	M	435	ENSP00000217188:T435M	ENSP00000217188:T435M	T	-	2	0	SRMS	61642778	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	4.865000	0.62998	2.427000	0.82271	0.655000	0.94253	ACG	.		0.682	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		A	62172334	G	A	62172334	3	1	52	1	0	0	0	0	1	0	0	0	15199	1145	40	1	166	1	SRMS	20	62172334	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	728521	62172334	853186	648	11299											
TNFRSF6B	8771	hgsc.bcm.edu;broad.mit.edu	37	chr20	62328346	62328346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggcccgtgtccaccgCgccactacacgcagttctgg	12	16	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr20:62328346C>T	ENST00000369996.1	+	1	326	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1378V|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1378V|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	76					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GTGTCCACCGCGCCACTACAC	0.697																																					p.R76C		.											.	TNFRSF6B-651	0			c.C226T						.						23	25	24					20																	62328346		2184	4279	6463	SO:0001583	missense	8771	exon1			CCACCGCGCCACT	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.226C>T	20.37:g.62328346C>T	ENSP00000359013:p.Arg76Cys	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	154	10	NM_003823	0	0	8	8	0		Missense_Mutation	SNP	ENST00000369996.1	37	CCDS13532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.57|13.57	2.275862|2.275862	0.40294|0.40294	.|.	.|.	ENSG00000258366|ENSG00000243509	ENST00000318100|ENST00000370006;ENST00000369996;ENST00000342852	D|D	0.82526|0.91521	-1.62|-2.86	4.0|4.0	3.05|3.05	0.35203|0.35203	.|TNFR/CD27/30/40/95 cysteine-rich region (3);	1.943570|.	0.03649|.	U|.	0.240707|.	T|T	0.78553|0.78553	0.4301|0.4301	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P	.|0.34699	.|0.464	.|B	.|0.25987	.|0.065	T|T	0.69128|0.69128	-0.5227|-0.5227	8|9	0.87932|0.52906	D|T	0|0.07	-13.7917|-13.7917	5.3555|5.3555	0.16059|0.16059	0.1595:0.6624:0.0:0.1781|0.1595:0.6624:0.0:0.1781	.|.	.|76	.|O95407	.|TNF6B_HUMAN	V|C	1378|76	ENSP00000322287:A1378V|ENSP00000359013:R76C	ENSP00000322287:A1378V|ENSP00000342328:R76C	A|R	+|+	2|1	0|0	AL353715.1|TNFRSF6B	61798790|61798790	0.317000|0.317000	0.24589|0.24589	0.249000|0.249000	0.24280|0.24280	0.095000|0.095000	0.18619|0.18619	1.278000|1.278000	0.33179|0.33179	0.675000|0.675000	0.31264|0.31264	-0.258000|-0.258000	0.10820|0.10820	GCG|CGC	.		0.697	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			T	62328346	C	T	62328346	3	4	52	1	0	0	0	0	1	0	0	0	16345	768	27	1	228	1	TNFRSF6B	20	62328346	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	156012	62328346	697174	649	11300											
PWP2	5822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45548439	45548439	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctccctttcagagccggGacgctgctgcctgtcattca	10	14	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr21:45548439G>A	ENST00000291576.7	+	20	2644	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	839					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TCAGAGCCGGGACGCTGCTGC	0.597																																					p.G839G		.											.	PWP2-91	0			c.G2517A						.						52	38	43					21																	45548439		2203	4300	6503	SO:0001819	synonymous_variant	5822	exon20			AGCCGGGACGCTG		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2517G>A	21.37:g.45548439G>A		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	109	98	NM_005049	0	0	0	2	2	B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	CCDS33579.1																																																																																			.		0.597	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		A	45548439	G	A	45548439	2	1	52	1	0	0	0	0	0	0	0	1	12889	1161	41	3		3	PWP2	21	45548439	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10		45548439	2581456	650	11301											
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	46931077	46931077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcaggctctgagggtcCgctgaagcccggggcacgca	15	13	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr21:46931077C>T	ENST00000359759.4	+	40	5012	c.4991C>T	c.(4990-4992)cCg>cTg	p.P1664L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.P1249L|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.P1429L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1664	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)		TCTGAGGGTCCGCTGAAGCCC	0.612																																					p.P1426L		.											.	COL18A1-90	0			c.C4277T						.						42	44	43					21																	46931077		1999	4170	6169	SO:0001583	missense	80781	exon41			AGGGTCCGCTGAA		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.4991C>T	21.37:g.46931077C>T	ENSP00000352798:p.Pro1664Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	66	17	NM_030582	0	0	165	236	71	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.809|5.809	0.333510|0.333510	0.11013|0.11013	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02|.	4.71|4.71	-2.72|-2.72	0.05968|0.05968	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);|.	0.385862|.	0.28538|.	N|.	0.014991|.	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.11235|.	0.004;0.001;0.003;0.003|.	B;B;B;B|.	0.06405|.	0.002;0.001;0.001;0.001|.	T|T	0.10222|0.10222	-1.0639|-1.0639	10|5	0.32370|.	T|.	0.25|.	.|.	3.702|3.702	0.08386|0.08386	0.405:0.3953:0.0762:0.1235|0.405:0.3953:0.0762:0.1235	.|.	1664;1246;1429;1249|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	L|C	1249;1249;1429;1664;1664;597|234	ENSP00000383191:P1249L;ENSP00000347665:P1429L;ENSP00000352798:P1664L;ENSP00000339118:P597L|.	ENSP00000339118:P597L|.	P|R	+|+	2|1	0|0	COL18A1|COL18A1	45755505|45755505	0.000000|0.000000	0.05858|0.05858	0.920000|0.920000	0.36463|0.36463	0.003000|0.003000	0.03518|0.03518	-0.731000|-0.731000	0.04909|0.04909	-0.689000|-0.689000	0.05149|0.05149	-2.180000|-2.180000	0.00316|0.00316	CCG|CGC	.		0.612	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46931077	C	T	46931077	3	4	52	1	0	0	0	0	1	0	0	0	3682	652	23	1	5258	1	COL18A1	21	46931077	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1382638	46931077	1198818	651	11302											
SLC25A18	83733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18070754	18070754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaacaacctggggttcaaCgagctcgccggtaaggcgtc	12	12	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:18070754C>T	ENST00000327451.6	+	9	1177	c.639C>T	c.(637-639)aaC>aaT	p.N213N	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.N213N	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	213						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		TGGGGTTCAACGAGCTCGCCG	0.532																																					p.N213N	Colon(118;1560 1625 18964 29606 50093)	.											.	SLC25A18-90	0			c.C639T						.						224	181	195					22																	18070754		2203	4300	6503	SO:0001819	synonymous_variant	83733	exon9			GTTCAACGAGCTC	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.639C>T	22.37:g.18070754C>T		Somatic	301	0		WXS	Illumina GAIIx	Phase_I	173	142	NM_031481	0	0	0	0	0		Silent	SNP	ENST00000327451.6	37	CCDS13744.1																																																																																			.		0.532	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		T	18070754	C	T	18070754	2	4	52	1	0	0	0	0	0	0	0	1	14525	535	19	1		1	SLC25A18	22	18070754	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		18070754	33233812	652	11303											
RTN4R	65078	ucsc.edu;bcgsc.ca	37	chr22	20230060	20230060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaggctgtgcagcccaCggaaggcgcgctcgggcacg	18	13	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:20230060C>T	ENST00000043402.7	-	2	1034	c.596G>A	c.(595-597)cGt>cAt	p.R199H	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	199					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTGCAGCCCACGGAAGGCGCG	0.647																																					p.R199H		.											.	RTN4R-90	0			c.G596A						.						80	80	80					22																	20230060		2203	4300	6503	SO:0001583	missense	65078	exon2			AGCCCACGGAAGG	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.596G>A	22.37:g.20230060C>T	ENSP00000043402:p.Arg199His	Somatic	153	2		WXS	Illumina GAIIx	Phase_I	184	151	NM_023004	0	0	0	82	82	D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.384316|4.384316	0.82792|0.82792	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000043402|ENST00000416372;ENST00000425986	T|.	0.57436|.	0.4|.	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	0.226096|.	0.22961|.	N|.	0.053553|.	T|T	0.48003|0.48003	0.1476|0.1476	N|N	0.16567|0.16567	0.415|0.415	0.53688|0.53688	D|D	0.999974|0.999974	D|.	0.60160|.	0.987|.	P|.	0.46758|.	0.526|.	T|T	0.41016|0.41016	-0.9532|-0.9532	10|5	0.56958|.	D|.	0.05|.	.|.	14.1964|14.1964	0.65675|0.65675	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	199|.	Q9BZR6|.	RTN4R_HUMAN|.	H|M	199|219;285	ENSP00000043402:R199H|.	ENSP00000043402:R199H|.	R|V	-|-	2|1	0|0	RTN4R|RTN4R	18610060|18610060	0.828000|0.828000	0.29307|0.29307	0.867000|0.867000	0.34043|0.34043	0.866000|0.866000	0.49608|0.49608	2.538000|2.538000	0.45710|0.45710	2.287000|2.287000	0.76781|0.76781	0.561000|0.561000	0.74099|0.74099	CGT|GTG	.		0.647	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			T	20230060	C	T	20230060	3	4	52	1	0	0	0	0	1	0	0	0	13775	536	19	1	829	1	RTN4R	22	20230060	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	2159306	20230060	31074506	653	11304											
AIFM3	150209	broad.mit.edu	37	chr22	21332292	21332292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagatggctcatgctcAgggtatggccagtcccgagg	15	10	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:21332292A>G	ENST00000399167.2	+	16	1715	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	AIFM3_ENST00000405089.1_Missense_Mutation_p.Q498R|AIFM3_ENST00000399163.2_Missense_Mutation_p.Q492R|AIFM3_ENST00000333607.6_Missense_Mutation_p.Q492R|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.Q480R|AIFM3_ENST00000440238.2_Missense_Mutation_p.Q492R	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	492					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)			GCTCATGCTCAGGGTATGGCC	0.602																																					p.Q498R		.											.	AIFM3-280	0			c.A1493G						.						98	65	76					22																	21332292		2203	4300	6503	SO:0001583	missense	150209	exon16			ATGCTCAGGGTAT	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.1475A>G	22.37:g.21332292A>G	ENSP00000382120:p.Gln492Arg	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	107	4	NM_001146288	0	0	0	0	0	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232268	0.58777	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.56611	0.46;0.47;0.46;0.45;0.46;0.47	4.56	4.56	0.56223	.	0.128909	0.52532	D	0.000064	T	0.50292	0.1607	M	0.73319	2.225	0.51767	D	0.999934	P;P;B;B;B	0.36789	0.565;0.57;0.23;0.23;0.417	B;B;B;B;B	0.32980	0.156;0.09;0.098;0.098;0.045	T	0.58399	-0.7643	10	0.66056	D	0.02	-13.4468	12.1655	0.54127	1.0:0.0:0.0:0.0	.	480;480;498;492;492	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	R	492;492;498;480;492;492	ENSP00000382120:Q492R;ENSP00000382116:Q492R;ENSP00000385800:Q498R;ENSP00000335369:Q480R;ENSP00000390798:Q492R;ENSP00000327671:Q492R	ENSP00000327671:Q492R	Q	+	2	0	AIFM3	19662292	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.502000	0.90505	1.822000	0.53115	0.460000	0.39030	CAG	.		0.602	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		G	21332292	A	G	21332292	3	3	52	1	0	0	0	0	1	0	0	0	428	188	7	4	1551	4	AIFM3	22	21332292	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1102232	21332292	29972274	654	11305											
MYO18B	84700	broad.mit.edu	37	chr22	26422656	26422656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacaaatacatccccgctgtCgagggaaaagctgcccagtc	9	13	0	0	rs192136611		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:26422656C>T	ENST00000407587.2	+	43	6888	c.6719C>T	c.(6718-6720)tCg>tTg	p.S2240L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2239L|MYO18B_ENST00000335473.7_Missense_Mutation_p.S2239L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2239						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S2240W(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCGCTGTCGAGGGAAAAG	0.612																																					p.S2239L		.											.	MYO18B-142	1	Substitution - Missense(1)	lung(1)	c.C6716T						.						24	26	26					22																	26422656		1916	4107	6023	SO:0001583	missense	84700	exon43			CGCTGTCGAGGGA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6719C>T	22.37:g.26422656C>T	ENSP00000386096:p.Ser2240Leu	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	73	4	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.478996|2.478996	0.44044|0.44044	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86432	.|-2.1;-2.1;-2.12	4.94|4.94	2.35|2.35	0.29111|0.29111	.|.	.|0.496579	.|0.15587	.|N	.|0.254603	.|T	.|0.81489	.|0.4833	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.18013	.|0.005;0.014;0.014;0.01;0.025	.|B;B;B;B;B	.|0.09377	.|0.003;0.002;0.002;0.003;0.004	.|T	.|0.68379	.|-0.5424	.|10	.|0.31617	.|T	.|0.26	.|.	8.222|8.222	0.31547|0.31547	0.0:0.7324:0.1644:0.1032|0.0:0.7324:0.1644:0.1032	.|.	.|1752;2241;2239;2240;2239	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	X|L	189|2239;2239;2240	.|ENSP00000441229:S2239L;ENSP00000334563:S2239L;ENSP00000386096:S2240L	.|ENSP00000334563:S2239L	R|S	+|+	1|2	2|0	MYO18B|MYO18B	24752656|24752656	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.779000|0.779000	0.44077|0.44077	0.299000|0.299000	0.19138|0.19138	1.030000|1.030000	0.39839|0.39839	0.491000|0.491000	0.48974|0.48974	CGA|TCG	C|0.999;G|0.000		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422656	C	T	26422656	3	4	52	1	0	0	0	0	1	0	0	0	10104	893	31	1	6882	1	MYO18B	22	26422656	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	5090364	26422656	24881910	655	11306											
SLC5A4	6527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	32614516	32614516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttcaggcatagtagccGtgaataaagaccaccacagc	10	10	1	3	rs372331398		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:32614516G>A	ENST00000266086.4	-	15	1976	c.1965C>T	c.(1963-1965)caC>caT	p.H655H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	655					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATAGTAGCCGTGAATAAAGA	0.393																																					p.H655H		.											.	SLC5A4-90	0			c.C1965T						.						95	72	80					22																	32614516		2203	4300	6503	SO:0001819	synonymous_variant	6527	exon15			GTAGCCGTGAATA	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1965C>T	22.37:g.32614516G>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	75	66	NM_014227	0	0	0	0	0	O15279	Silent	SNP	ENST00000266086.4	37	CCDS13903.1																																																																																			.		0.393	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		A	32614516	G	A	32614516	2	1	52	1	0	0	0	0	0	0	0	1	14712	1136	40	1		1	SLC5A4	22	32614516	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	6191860	32614516	18690050	656	11307											
TOM1	10043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	35734781	35734781	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcagagcactggcgcGgtaagcagaggggccatcct	16	12	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:35734781G>A	ENST00000449058.2	+	12	1349	c.1224G>A	c.(1222-1224)gcG>gcA	p.A408A	TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Splice_Site_p.A408A|TOM1_ENST00000447733.1_Splice_Site_p.A375A|TOM1_ENST00000436462.2_Splice_Site_p.A370A|TOM1_ENST00000425375.1_Splice_Site_p.A363A	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	408					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						GCACTGGCGCGGTAAGCAGAG	0.642																																					p.A408A		.											.	TOM1-91	0			c.G1224A						.						19	17	18					22																	35734781		2185	4291	6476	SO:0001630	splice_region_variant	10043	exon12			TGGCGCGGTAAGC	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.1224+1G>A	22.37:g.35734781G>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	37	5	NM_001135732	0	0	1	1	0	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1																																																																																			.		0.642	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488	Silent	A	35734781	G	A	35734781	5	1	52	1	0	0	0	0	0	0	1	0	16398	1130	39	1	1270	1	TOM1	22	35734781	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3120265	35734781	15569785	657	11308											
FOXRED2	80020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	36900582	36900582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtctccaacgtagtgGgtggcccaggacagacggac	15	11	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:36900582G>T	ENST00000397224.4	-	3	852	c.759C>A	c.(757-759)acC>acA	p.T253T	FOXRED2_ENST00000216187.6_Silent_p.T253T|FOXRED2_ENST00000397223.4_Silent_p.T253T	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	253					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAACGTAGTGGGTGGCCCAGG	0.592																																					p.T253T		.											.	FOXRED2-92	0			c.C759A						.						55	48	50					22																	36900582		2203	4300	6503	SO:0001819	synonymous_variant	80020	exon3			GTAGTGGGTGGCC	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.759C>A	22.37:g.36900582G>T		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	87	75	NM_001102371	0	0	0	3	3	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	CCDS13929.1																																																																																			.		0.592	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		T	36900582	G	T	36900582	2	4	52	1	0	0	0	0	0	0	0	1	6058	1219	43	3		3	FOXRED2	22	36900582	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1165801	36900582	14403984	658	11309											
TRIOBP	11078	hgsc.bcm.edu	37	chr22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggggccgcacccAcagccctggccgtgcagagg	16	16	0	1	rs739138	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		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)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4	6	5		3899	3.9	1	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	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.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38122462	A	G	38122462	3	3	52	1	0	0	0	0	1	0	0	0	16601	159	6	4	3917	4	TRIOBP	22	38122462	Missense_Mutation	SNP	A	TCGA-OR-A5LJ-01A-11D-A29I-10	1221880	38122462	13182104	659	11310											
EIF3L	51386	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	38273801	38273801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatggggacaagatgttgCgcatgcagaaaggtgaccca	13	7	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:38273801C>T	ENST00000412331.2	+	11	1780	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	EIF3L_ENST00000406934.1_Missense_Mutation_p.R302C|EIF3L_ENST00000381683.6_Missense_Mutation_p.R352C	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAAGATGTTGCGCATGCAGAA	0.517																																					p.R400C		.											.	EIF3L-69	0			c.C1198T						.						102	82	89					22																	38273801		2203	4300	6503	SO:0001583	missense	51386	exon11			ATGTTGCGCATGC	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1198C>T	22.37:g.38273801C>T	ENSP00000416892:p.Arg400Cys	Somatic	279	1		WXS	Illumina GAIIx	Phase_I	169	140	NM_016091	0	0	18	285	267		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.908439	0.92107	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.46063	0.88;0.88;0.88	4.94	4.94	0.65067	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	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	0.73380	0.976;0.959;0.964;0.98	T	0.71629	-0.4535	10	0.72032	D	0.01	-20.0235	18.5732	0.91144	0.0:1.0:0.0:0.0	.	352;302;400;443	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	C	400;443;352;367;302	ENSP00000416892:R400C;ENSP00000371099:R352C;ENSP00000384634:R302C	ENSP00000262832:R367C	R	+	1	0	EIF3L	36603747	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.784000	0.85713	2.436000	0.82500	0.436000	0.28706	CGC	.		0.517	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		T	38273801	C	T	38273801	3	4	52	1	0	0	0	0	1	0	0	0	5038	768	27	1	1240	1	EIF3L	22	38273801	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	151339	38273801	13030765	660	11311											
SGSM3	57591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	40803553	40803553	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgacgagctgggcttccGcaagaacgacatcatcacag	11	13	2	1	rs376663138		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:40803553G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Missense_Mutation_p.R435H|SGSM3_ENST00000248929.9_Missense_Mutation_p.R502H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGGGCTTCCGCAAGAACGAC	0.672			T	RBM15	acute megakaryocytic leukemia																																p.R502H		.		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	SGSM3-494	0			c.G1505A						.						36	32	33					22																	40803553		2202	4300	6502	SO:0001628	intergenic_variant	27352	exon13			GCTTCCGCAAGAA	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803553G>A		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	35	34	NM_015705	0	0	0	30	30	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435179	0.96150	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.51325	0.71;0.71	5.41	5.41	0.78517	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.28274	0.84	0.80722	D	1	P;D;D;D	0.64830	0.944;0.987;0.994;0.987	P;P;P;P	0.58820	0.735;0.749;0.761;0.846	T	0.57533	-0.7795	10	0.59425	D	0.04	.	19.1834	0.93632	0.0:0.0:1.0:0.0	.	439;435;530;502	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	H	502;435	ENSP00000248929:R502H;ENSP00000390998:R435H	ENSP00000248929:R502H	R	+	2	0	SGSM3	39133499	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.581000	0.82535	2.529000	0.85273	0.561000	0.74099	CGC	.		0.672	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		A	40803553	G	A	40803553	1	1	52	0	1	0	0	0	0	0	0	0	14269	1087	38	1		1	SGSM3	22	40803553	IGR	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2529752	40803553	10501013	661	11312											
EP300	2033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	41572252	41572254	+	Splice_Site	DEL	TCT	TCT	-													gagactgtctgtttttcaggTcttctttgtgatccgcctca							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:41572252_41572254delTCT	ENST00000263253.7	+	30	6000_6002	c.4781_4783delTCT	c.(4780-4785)gtcttc>gtc	p.F1596del	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1596	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						GTTTTTCAGGTCTTCTTTGTGAT	0.537			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.1594_1595del		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	EP300-2011	0			c.4781_4783del						.																																			SO:0001630	splice_region_variant	2033	exon30	Familial Cancer Database	Broad Thumb-Hallux syndrome	TTCAGGTCTTCTT	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.4780-1TCT>-	22.37:g.41572255_41572257delTCT		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	59	41	NM_001429	0	0	0	0	0	B1AKC2	In_Frame_Del	DEL	ENST00000263253.7	37	CCDS14010.1																																																																																			.		0.537	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	In_Frame_Del	-	41572254	TCT	-	41572252	8	5	52	1	0	1	0	1	0	0	1	0	5164	1681	58	0	4899	0	EP300	22	41572252	Splice_Site	DEL	TCT	TCGA-OR-A5LJ-01A-11D-A29I-10	768699	41572252	9732314	662	11313											
TOB2	10766	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	41832698	41832698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgggtgagcgggccatgcGaggctgctgtggtggctgct	21	8	0	1	rs139245662	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:41832698G>A	ENST00000327492.3	-	2	1358	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	218					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CGGGCCATGCGAGGCTGCTGT	0.617													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		14686	0		0	False		,,,				2504	0				p.R218C		.											.	TOB2-227	0			c.C652T						.	G	CYS/ARG	4,4400		0,4,2198	26	21	23		652	6.1	0.6	22	dbSNP_134	23	0,8600		0,0,4300	yes	missense	TOB2	NM_016272.3	180	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	218/345	41832698	4,13000	2202	4300	6502	SO:0001583	missense	10766	exon2			CCATGCGAGGCTG	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.652C>T	22.37:g.41832698G>A	ENSP00000331305:p.Arg218Cys	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	103	82	NM_016272	0	0	0	6	6	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	CCDS14015.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.38	3.375391	0.61735	9.08E-4	0.0	ENSG00000183864	ENST00000327492	T	0.45668	0.89	6.08	6.08	0.98989	.	0.099034	0.56097	D	0.000025	T	0.55449	0.1921	L	0.50333	1.59	0.52501	D	0.999951	D	0.89917	1.0	P	0.57846	0.828	T	0.53732	-0.8397	10	0.66056	D	0.02	-14.7604	16.8682	0.86034	0.0:0.0:0.8712:0.1288	.	218	Q14106	TOB2_HUMAN	C	218	ENSP00000331305:R218C	ENSP00000331305:R218C	R	-	1	0	TOB2	40162644	0.728000	0.28080	0.647000	0.29507	0.795000	0.44927	0.948000	0.29096	2.894000	0.99253	0.655000	0.94253	CGC	G|1.000;A|0.000		0.617	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		A	41832698	G	A	41832698	3	1	52	1	0	0	0	0	1	0	0	0	16395	1058	37	1	386	1	TOB2	22	41832698	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	260446	41832698	9471868	663	11314											
PKDREJ	10343	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	46653903	46653903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggattcaggtcattgtGtaacaaaggcaacagcacgc	11	8	2	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:46653903G>A	ENST00000253255.5	-	1	5316	c.5317C>T	c.(5317-5319)Cac>Tac	p.H1773Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1773					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)		AGGTCATTGTGTAACAAAGGC	0.413																																					p.H1773Y		.											.	PKDREJ-156	0			c.C5317T						.						148	143	145					22																	46653903		2203	4300	6503	SO:0001583	missense	10343	exon1			CATTGTGTAACAA	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.5317C>T	22.37:g.46653903G>A	ENSP00000253255:p.His1773Tyr	Somatic	136	2		WXS	Illumina GAIIx	Phase_I	97	20	NM_006071	0	0	2	2	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426557	0.62733	.	.	ENSG00000130943	ENST00000253255	T	0.70282	-0.47	4.58	4.58	0.56647	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000016	T	0.81527	0.4841	M	0.76574	2.34	0.37417	D	0.913465	D	0.89917	1.0	D	0.91635	0.999	T	0.80668	-0.1280	10	0.16896	T	0.51	-33.7266	14.4679	0.67497	0.0:0.0:1.0:0.0	.	1773	Q9NTG1	PKDRE_HUMAN	Y	1773	ENSP00000253255:H1773Y	ENSP00000253255:H1773Y	H	-	1	0	PKDREJ	45032567	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.288000	0.72679	2.279000	0.76181	0.305000	0.20034	CAC	.		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46653903	G	A	46653903	3	1	52	1	0	0	0	0	1	0	0	0	12009	1377	48	3	1448	3	PKDREJ	22	46653903	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4821205	46653903	4650663	664	11315											
CELSR1	9620	broad.mit.edu	37	chr22	46835126	46835126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgctgtctcaggccccGgaaggtgacgaaggactggg	17	10	1	1	rs150197128	byFrequency	TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:46835126G>A	ENST00000262738.3	-	3	4365	c.4366C>T	c.(4366-4368)Cgg>Tgg	p.R1456W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1456	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCAGGCCCCGGAAGGTGACG	0.642													G|||	2	0.000399361	0	0	5008	,	,		17270	0		0	False		,,,				2504	0.002				p.R1456W		.											.	CELSR1-525	0			c.C4366T						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104	87	93		4366	2.9	1	22	dbSNP_134	93	2,8598	3.0+/-9.4	0,2,4298	yes	missense	CELSR1	NM_014246.1	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	1456/3015	46835126	3,13003	2203	4300	6503	SO:0001583	missense	9620	exon3			GGCCCCGGAAGGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4366C>T	22.37:g.46835126G>A	ENSP00000262738:p.Arg1456Trp	Somatic	198	1		WXS	Illumina GAIIx	Phase_I	140	4	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783988	0.49891	2.27E-4	2.33E-4	ENSG00000075275	ENST00000262738	T	0.80123	-1.34	5.1	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.165961	0.34932	U	0.003575	D	0.88317	0.6404	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88839	0.3311	10	0.66056	D	0.02	.	11.3229	0.49433	0.0:0.0:0.3958:0.6042	.	1456	Q9NYQ6	CELR1_HUMAN	W	1456	ENSP00000262738:R1456W	ENSP00000262738:R1456W	R	-	1	2	CELSR1	45213790	1.000000	0.71417	0.990000	0.47175	0.165000	0.22458	2.912000	0.48782	1.146000	0.42352	-0.310000	0.09108	CGG	G|1.000;A|0.000		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46835126	G	A	46835126	3	1	52	1	0	0	0	0	1	0	0	0	3228	1115	39	1	4810	1	CELSR1	22	46835126	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	181223	46835126	4469440	665	11316											
SBF1	6305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	50899065	50899065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatgtccggcgggtacCgcagcttatgcagctgctta	12	13	0	1	rs372268920		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chr22:50899065C>T	ENST00000390679.3	-	24	3228	c.3044G>A	c.(3043-3045)cGg>cAg	p.R1015Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R1016Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R1015Q			O95248	MTMR5_HUMAN	SET binding factor 1	1015					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCGGGTACCGCAGCTTATG	0.607																																					p.R1015Q		.											.	SBF1-90	0			c.G3044A						.	C	GLN/ARG	0,4094		0,0,2047	91	99	96		3044	4.5	1	22		96	2,8362		0,2,4180	no	missense	SBF1	NM_002972.2	43	0,2,6227	TT,TC,CC		0.0239,0.0,0.0161	probably-damaging	1015/1894	50899065	2,12456	2047	4182	6229	SO:0001583	missense	6305	exon24			GGGTACCGCAGCT	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3044G>A	22.37:g.50899065C>T	ENSP00000375097:p.Arg1015Gln	Somatic	167	1		WXS	Illumina GAIIx	Phase_I	87	67	NM_002972	0	0	0	12	12	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.957790	0.73902	0.0	2.39E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.10668	2.85;2.85;2.85	4.47	4.47	0.54385	.	0.069512	0.64402	D	0.000020	T	0.36054	0.0953	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.96;0.99	T	0.36237	-0.9756	10	0.87932	D	0	.	16.711	0.85385	0.0:1.0:0.0:0.0	.	1015;1015	O95248;O95248-4	MTMR5_HUMAN;.	Q	1015;1016;1025;1015	ENSP00000370196:R1015Q;ENSP00000252027:R1016Q;ENSP00000375097:R1015Q	ENSP00000336522:R1025Q	R	-	2	0	SBF1	49245931	1.000000	0.71417	0.998000	0.56505	0.329000	0.28539	7.415000	0.80131	2.027000	0.59764	0.467000	0.42956	CGG	.		0.607	SBF1-201	KNOWN	basic	protein_coding	protein_coding				T	50899065	C	T	50899065	3	4	52	1	0	0	0	0	1	0	0	0	13903	652	23	1	2709	1	SBF1	22	50899065	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	4063939	50899065	405501	666	11317											
ASMTL	8623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	1546767	1546767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatcgcggctgcccgCgtccctctgagtgggctccg	12	17	2	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:1546767C>T	ENST00000381317.3	-	7	789	c.757G>A	c.(757-759)Gcg>Acg	p.A253T	ASMTL_ENST00000534940.1_Missense_Mutation_p.A195T|ASMTL_ENST00000381333.4_Missense_Mutation_p.A237T|ASMTL_ENST00000416733.2_Missense_Mutation_p.A177T|ASMTL_ENST00000463763.1_5'UTR	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	253						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCTGCCCGCGTCCCTCTGA	0.701																																					p.A253T		.											.	ASMTL-62	0			c.G757A						.						51	68	62					X																	1546767		2053	4157	6210	SO:0001583	missense	8623	exon7			TGCCCGCGTCCCT	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.757G>A	X.37:g.1546767C>T	ENSP00000370718:p.Ala253Thr	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	98	82	NM_004192	0	0	3	55	52	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	0.738	-0.777307	0.02929	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	1.11	-2.21	0.06973	.	30.130400	0.00447	N	0.000093	T	0.27663	0.0680	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.16630	-1.0396	10	0.15066	T	0.55	.	7.3176	0.26509	0.0:0.7901:0.0:0.2099	.	177;237;253	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	T	177;195;237;253	ENSP00000410578:A177T;ENSP00000446410:A195T;ENSP00000370734:A237T;ENSP00000370718:A253T	ENSP00000370718:A253T	A	-	1	0	ASMTL	1506767	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.195000	0.09546	-1.243000	0.02519	-1.605000	0.00808	GCG	.		0.701	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1546767	C	T	1546767	3	4	52	1	0	0	0	0	1	0	0	0	1047	768	27	1	1136	1	ASMTL	23	1546767	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10		1546767	153723793	667	11318											
PNPLA4	8228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	7890071	7890071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccatgaagtcataaccGggcgttactgccccgaaaga	12	12	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:7890071G>A	ENST00000381042.4	-	3	419	c.249C>T	c.(247-249)ccC>ccT	p.P83P	PNPLA4_ENST00000444736.1_Silent_p.P83P|PNPLA4_ENST00000537427.1_5'UTR	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	83	Patatin.				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)				AGTCATAACCGGGCGTTACTG	0.418																																					p.P83P		.											.	PNPLA4-130	0			c.C249T						.						93	79	83					X																	7890071		2203	4299	6502	SO:0001819	synonymous_variant	8228	exon3			ATAACCGGGCGTT	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.249C>T	X.37:g.7890071G>A		Somatic	263	1		WXS	Illumina GAIIx	Phase_I	242	202	NM_004650	0	0	1	37	36	A8K1H3|B4E362|Q8WW83	Silent	SNP	ENST00000381042.4	37	CCDS14129.1																																																																																			.		0.418	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		A	7890071	G	A	7890071	2	1	52	1	0	0	0	0	0	0	0	1	12206	1103	39	1		1	PNPLA4	23	7890071	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	6343304	7890071	147380489	668	11319											
KAL1	3730	broad.mit.edu;bcgsc.ca	37	chrX	8538724	8538724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagccggaggttagccGgtgctggtggggcagatgga	20	8	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:8538724G>A	ENST00000262648.3	-	7	1027	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	293	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GAGGTTAGCCGGTGCTGGTGG	0.512																																					p.P293L		.											.	KAL1-134	0			c.C878T						.						44	37	40					X																	8538724		2203	4300	6503	SO:0001583	missense	3730	exon7			TTAGCCGGTGCTG		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.878C>T	X.37:g.8538724G>A	ENSP00000262648:p.Pro293Leu	Somatic	321	0		WXS	Illumina GAIIx	Phase_I	237	9	NM_000216	0	0	0	0	0	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151261	0.38021	.	.	ENSG00000011201	ENST00000262648	T	0.62498	0.02	4.11	3.24	0.37175	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.115830	0.64402	N	0.000013	T	0.70657	0.3249	M	0.80183	2.485	0.80722	D	1	P	0.52463	0.953	P	0.51895	0.683	T	0.73167	-0.4068	10	0.87932	D	0	-15.7654	10.4994	0.44796	0.0986:0.0:0.9014:0.0	.	293	P23352	KALM_HUMAN	L	293	ENSP00000262648:P293L	ENSP00000262648:P293L	P	-	2	0	KAL1	8498724	1.000000	0.71417	0.003000	0.11579	0.107000	0.19398	7.777000	0.85628	0.595000	0.29777	0.431000	0.28591	CCG	.		0.512	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		A	8538724	G	A	8538724	3	1	52	1	0	0	0	0	1	0	0	0	8001	1116	39	1	1196	1	KAL1	23	8538724	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	648653	8538724	146731836	669	11320											
KAL1	3730	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	8553424	8553424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatgtcagtcagttgaactCgctcgtctgtggtctgaggg	13	8	4	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:8553424C>T	ENST00000262648.3	-	6	889	c.740G>A	c.(739-741)cGa>cAa	p.R247Q		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	247	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CAGTTGAACTCGCTCGTCTGT	0.488																																					p.R247Q		.											.	KAL1-134	0			c.G740A						.						196	137	157					X																	8553424		2203	4300	6503	SO:0001583	missense	3730	exon6			TGAACTCGCTCGT		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.740G>A	X.37:g.8553424C>T	ENSP00000262648:p.Arg247Gln	Somatic	164	2		WXS	Illumina GAIIx	Phase_I	144	112	NM_000216	0	0	0	0	0	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404183	0.42613	.	.	ENSG00000011201	ENST00000262648	T	0.57595	0.39	3.74	3.74	0.42951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.120339	0.53938	D	0.000045	T	0.58963	0.2159	L	0.36672	1.1	0.51012	D	0.999903	D	0.76494	0.999	D	0.65233	0.933	T	0.56414	-0.7983	10	0.30854	T	0.27	.	14.1448	0.65344	0.0:1.0:0.0:0.0	.	247	P23352	KALM_HUMAN	Q	247	ENSP00000262648:R247Q	ENSP00000262648:R247Q	R	-	2	0	KAL1	8513424	1.000000	0.71417	0.148000	0.22405	0.211000	0.24417	4.781000	0.62389	1.488000	0.48433	0.594000	0.82650	CGA	.		0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		T	8553424	C	T	8553424	3	4	52	1	0	0	0	0	1	0	0	0	8001	884	31	1	1338	1	KAL1	23	8553424	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	14700	8553424	146717136	670	11321											
MAP3K15	389840	broad.mit.edu	37	chrX	19390842	19390842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattttgtacaggatggCacggcgctcactgtccttgc	13	10	1	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:19390842C>T	ENST00000338883.4	-	22	3036	c.3037G>A	c.(3037-3039)Gcc>Acc	p.A1013T	MAP3K15_ENST00000359173.3_Missense_Mutation_p.A448T|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A845T|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1013							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)					TACAGGATGGCACGGCGCTCA	0.627											OREG0019699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1013T		.											.	MAP3K15-335	0			c.G3037A						.						78	68	72					X																	19390842		2203	4300	6503	SO:0001583	missense	389840	exon22			GGATGGCACGGCG	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.3037G>A	X.37:g.19390842C>T	ENSP00000345629:p.Ala1013Thr	Somatic	323	0	732	WXS	Illumina GAIIx	Phase_I	229	6	NM_001001671	0	0	18	19	1	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	c	18.89	3.720370	0.68959	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73575	-0.74;-0.76;-0.73	5.58	2.81	0.32909	.	0.101091	0.64402	D	0.000002	T	0.78855	0.4349	M	0.62088	1.915	0.48452	D	0.999654	D;D	0.61697	0.99;0.983	D;P	0.63957	0.92;0.838	T	0.72561	-0.4256	10	0.25106	T	0.35	.	7.5854	0.27989	0.1346:0.7194:0.0:0.1459	.	488;1013	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	T	1013;448;845	ENSP00000345629:A1013T;ENSP00000352093:A448T;ENSP00000428356:A845T	ENSP00000345629:A1013T	A	-	1	0	MAP3K15	19300763	1.000000	0.71417	0.011000	0.14972	0.746000	0.42486	4.513000	0.60476	0.154000	0.19237	0.525000	0.51046	GCC	.		0.627	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19390842	C	T	19390842	3	4	52	1	0	0	0	0	1	0	0	0	9287	710	25	3	936	3	MAP3K15	23	19390842	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	10837418	19390842	135879718	671	11322											
MAGEB1	4112	broad.mit.edu	37	chrX	30268991	30268991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaagtataaaatgagagaGcccattatgaaggcagatat	10	5	0	4			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:30268991G>A	ENST00000378981.3	+	4	702	c.381G>A	c.(379-381)gaG>gaA	p.E127E	MAGEB1_ENST00000397550.1_Silent_p.E127E|MAGEB1_ENST00000397548.2_Silent_p.E127E	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	127	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AAATGAGAGAGCCCATTATGA	0.483																																					p.E127E		.											.	MAGEB1-130	0			c.G381A						.						59	46	50					X																	30268991		2202	4300	6502	SO:0001819	synonymous_variant	4112	exon3			GAGAGAGCCCATT		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.381G>A	X.37:g.30268991G>A		Somatic	189	0		WXS	Illumina GAIIx	Phase_I	141	4	NM_177415	0	0	0	0	0	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																			.		0.483	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		A	30268991	G	A	30268991	2	1	52	1	0	0	0	0	0	0	0	1	9210	962	34	3		3	MAGEB1	23	30268991	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	10878149	30268991	125001569	672	11323											
TSPAN7	7102	hgsc.bcm.edu;bcgsc.ca	37	chrX	38535027	38535027	+	Frame_Shift_Del	DEL	C	C	-													tacttcctggagcatggcatCccccccagctgctgcatgaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:38535027delC	ENST00000378482.2	+	5	687	c.510delC	c.(508-510)atcfs	p.I170fs	TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.I196fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.I144fs|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.I200fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.I187fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	170					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGCATGGCATCCCCCCCAGCT	0.498																																					p.I170fs		.											.	TSPAN7-63	0			c.510delC						.						73	58	63					X																	38535027		2202	4300	6502	SO:0001589	frameshift_variant	7102	exon5			TGGCATCCCCCCC	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.510delC	X.37:g.38535027delC	ENSP00000367743:p.Ile170fs	Somatic	206	1		WXS	Illumina GAIIx	Phase_I	170	136	NM_004615	0	0	0	0	0	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Frame_Shift_Del	DEL	ENST00000378482.2	37	CCDS14248.1																																																																																			.		0.498	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			-	38535027	C	-	38535027	7	5	52	1	0	1	0	1	0	0	0	0	16700	845	30	0	528	0	TSPAN7	23	38535027	Frame_Shift_Del	DEL	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8266036	38535027	116735533	673	11324											
MED14	9282	broad.mit.edu;bcgsc.ca	37	chrX	40518765	40518765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcacttttagctgaagcGtttggttggttttgggacta	13	5	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:40518765G>A	ENST00000324817.1	-	27	3897	c.3779C>T	c.(3778-3780)aCg>aTg	p.T1260M		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1260					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGCTGAAGCGTTTGGTTGGT	0.393																																					p.T1260M		.											.	MED14-289	0			c.C3779T						.						201	174	183					X																	40518765		2203	4300	6503	SO:0001583	missense	9282	exon27			TGAAGCGTTTGGT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3779C>T	X.37:g.40518765G>A	ENSP00000323720:p.Thr1260Met	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_004229	0	0	28	32	4	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493047	0.84962	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.56275	0.47;0.47	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.965	T	0.69606	-0.5100	10	0.87932	D	0	.	18.2116	0.89872	0.0:0.0:1.0:0.0	.	1260;1260	A8KAK5;O60244	.;MED14_HUMAN	M	1260;159	ENSP00000323720:T1260M;ENSP00000411357:T159M	ENSP00000323720:T1260M	T	-	2	0	MED14	40403709	1.000000	0.71417	0.991000	0.47740	0.958000	0.62258	9.230000	0.95299	2.238000	0.73509	0.600000	0.82982	ACG	.		0.393	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		A	40518765	G	A	40518765	3	1	52	1	0	0	0	0	1	0	0	0	9470	1145	40	1	605	1	MED14	23	40518765	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1983738	40518765	114751795	674	11325											
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	41075161	41075161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttattttaggttgataccGtaaagcgcttgctgattaaa	9	5	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:41075161G>A	ENST00000324545.8	+	35	5974	c.5341G>A	c.(5341-5343)Gta>Ata	p.V1781I	USP9X_ENST00000378308.2_Missense_Mutation_p.V1781I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1781	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGTTGATACCGTAAAGCGCTT	0.323																																					p.V1781I	Ovarian(172;1807 2695 35459 49286)	.											.	USP9X-563	0			c.G5341A						.						51	48	49					X																	41075161		1935	4173	6108	SO:0001583	missense	8239	exon35			GATACCGTAAAGC	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.5341G>A	X.37:g.41075161G>A	ENSP00000316357:p.Val1781Ile	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	119	9	NM_001039591	0	0	1	1	0	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027826	0.54790	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.05319	3.46;3.46	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.052244	0.85682	N	0.000000	T	0.08133	0.0203	L	0.34521	1.04	0.80722	D	1	D;P	0.57571	0.98;0.869	B;B	0.42959	0.403;0.343	T	0.23547	-1.0185	10	0.39692	T	0.17	.	18.7552	0.91830	0.0:0.0:1.0:0.0	.	1781;1781	Q93008-1;Q93008	.;USP9X_HUMAN	I	1781	ENSP00000367558:V1781I;ENSP00000316357:V1781I	ENSP00000316357:V1781I	V	+	1	0	USP9X	40960105	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	9.416000	0.97383	2.375000	0.81037	0.600000	0.82982	GTA	.		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41075161	G	A	41075161	3	1	52	1	0	0	0	0	1	0	0	0	17139	1145	40	1	5475	1	USP9X	23	41075161	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	556396	41075161	114195399	675	11326											
SSX5	6758	ucsc.edu;bcgsc.ca	37	chrX	48053647	48053647	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacgcatgaaaggtgggagGgtggccttgaaacctagaaa	14	6	0	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:48053647G>T	ENST00000376923.1	-	3	197	c.198C>A	c.(196-198)acC>acA	p.T66T	SSX5_ENST00000311798.1_Silent_p.T107T|SSX5_ENST00000347757.1_Silent_p.T66T			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	66	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						AAGGTGGGAGGGTGGCCTTGA	0.478																																					p.T107T		.											.	SSX5-90	0			c.C321A						.						130	116	121					X																	48053647		2203	4299	6502	SO:0001819	synonymous_variant	6758	exon5			TGGGAGGGTGGCC	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.198C>A	X.37:g.48053647G>T		Somatic	1273	4		WXS	Illumina GAIIx	Phase_I	786	631	NM_021015	0	0	0	0	0	Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	CCDS14289.1																																																																																			.		0.478	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		T	48053647	G	T	48053647	2	4	52	1	0	0	0	0	0	0	0	1	15255	1219	43	3		3	SSX5	23	48053647	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	6978486	48053647	107216913	676	11327											
KCND1	3750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48826543	48826543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagcgccgtccgctcaCgttcaccaccagaacctcat	6	18	4	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:48826543C>T	ENST00000218176.3	-	1	1433	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	46					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CGTCCGCTCACGTTCACCACC	0.627																																					p.V46M		.											.	KCND1-133	0			c.G136A						.						45	29	35					X																	48826543		2203	4300	6503	SO:0001583	missense	3750	exon1			CGCTCACGTTCAC	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.136G>A	X.37:g.48826543C>T	ENSP00000218176:p.Val46Met	Somatic	225	1		WXS	Illumina GAIIx	Phase_I	126	109	NM_004979	0	0	0	2	2	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864880	0.71949	.	.	ENSG00000102057	ENST00000218176	T	0.66638	-0.22	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000002	D	0.90290	0.6963	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94716	0.7896	10	0.87932	D	0	.	15.3122	0.74042	0.0:1.0:0.0:0.0	.	46	Q9NSA2	KCND1_HUMAN	M	46	ENSP00000218176:V46M	ENSP00000218176:V46M	V	-	1	0	KCND1	48711487	1.000000	0.71417	0.920000	0.36463	0.832000	0.47134	7.651000	0.83577	2.120000	0.65058	0.422000	0.28245	GTG	.		0.627	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		T	48826543	C	T	48826543	3	4	52	1	0	0	0	0	1	0	0	0	8045	536	19	1	1831	1	KCND1	23	48826543	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	772896	48826543	106444017	677	11328											
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	50350688	50350690	+	In_Frame_Del	DEL	CCT	CCT	-													ctcctcttcctcctcctctgCctcctcctcctcctcttcct							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	CCT	CCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:50350688_50350690delCCT	ENST00000289292.7	-	6	3735_3737	c.3452_3454delAGG	c.(3451-3456)gaggca>gca	p.E1151del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.E1035del|SHROOM4_ENST00000376020.2_In_Frame_Del_p.E1151del			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1151	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)					tcctcctctgcctcctcctcctc	0.562																																					p.1151_1152del		.											.	SHROOM4-131	0			c.3452_3454del						.																																			SO:0001651	inframe_deletion	57477	exon6			CCTCTGCCTCCTC	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.3452_3454delAGG	X.37:g.50350697_50350699delCCT	ENSP00000289292:p.Glu1151del	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	92	65	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	CCDS35277.1																																																																																			-|0.701;TCC|0.299		0.562	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		-	50350690	CCT	-	50350688	7	5	52	1	0	1	0	1	0	0	0	0	14341	739	26	0	1043	0	SHROOM4	23	50350688	In_Frame_Del	DEL	CCT	TCGA-OR-A5LJ-01A-11D-A29I-10	1524145	50350688	104919872	678	11329											
HEPH	9843	broad.mit.edu;bcgsc.ca	37	chrX	65486456	65486456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcgacagagaaagctacGacgcaataggaggtccatcc	10	11	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:65486456G>A	ENST00000343002.2	+	20	4083	c.3419G>A	c.(3418-3420)cGa>cAa	p.R1140Q	HEPH_ENST00000374727.3_Missense_Mutation_p.R1143Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R1142Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R951Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R1194Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R873Q			Q9BQS7	HEPH_HUMAN	hephaestin	1140					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						AGAAAGCTACGACGCAATAGG	0.488																																					p.R1194Q		.											.	HEPH-135	0			c.G3581A						.						243	166	192					X																	65486456		2203	4300	6503	SO:0001583	missense	9843	exon21			AGCTACGACGCAA	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.3419G>A	X.37:g.65486456G>A	ENSP00000343939:p.Arg1140Gln	Somatic	327	0		WXS	Illumina GAIIx	Phase_I	240	10	NM_138737	0	0	1	1	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	.	19.95	3.921083	0.73213	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99311	-5.72;-5.69;-5.69;-5.69;-5.73;-5.69	5.6	5.6	0.85130	.	0.000000	0.49916	D	0.000130	D	0.98789	0.9592	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.987;0.948;0.988	D	0.95862	0.8884	10	0.34782	T	0.22	.	15.2239	0.73336	0.0:0.0:1.0:0.0	.	1194;951;1140	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	Q	1194;1143;873;1142;951;1140	ENSP00000430620:R1194Q;ENSP00000363859:R1143Q;ENSP00000337418:R873Q;ENSP00000411687:R1142Q;ENSP00000413211:R951Q;ENSP00000343939:R1140Q	ENSP00000337418:R873Q	R	+	2	0	HEPH	65403181	0.721000	0.28007	0.122000	0.21767	0.523000	0.34469	5.619000	0.67729	2.354000	0.79902	0.600000	0.82982	CGA	.		0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		A	65486456	G	A	65486456	3	1	52	1	0	0	0	0	1	0	0	0	7081	1058	37	1	3663	1	HEPH	23	65486456	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	15135768	65486456	89784104	679	11330											
TEX11	56159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	69774510	69774510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagctcttacttgcaattgTttcaaaagttttagtttcta	5	6	3	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:69774510T>C	ENST00000395889.2	-	27	2481	c.2326A>G	c.(2326-2328)Aca>Gca	p.T776A	TEX11_ENST00000344304.3_Missense_Mutation_p.T776A|TEX11_ENST00000374320.2_Missense_Mutation_p.T451A|TEX11_ENST00000374333.2_Missense_Mutation_p.T761A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	776					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTTGCAATTGTTTCAAAAGTT	0.368																																					p.T776A		.											.	TEX11-178	0			c.A2326G						.						80	67	71					X																	69774510		2203	4300	6503	SO:0001583	missense	56159	exon27			CAATTGTTTCAAA	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2326A>G	X.37:g.69774510T>C	ENSP00000379226:p.Thr776Ala	Somatic	246	0		WXS	Illumina GAIIx	Phase_I	161	32	NM_001003811	0	0	0	0	0	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	9.308	1.054823	0.19907	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.49139	1.38;1.4;0.79;1.4	4.43	2.03	0.26663	.	0.495422	0.20074	N	0.099801	T	0.39708	0.1088	L	0.58101	1.795	0.09310	N	1	B;B	0.23937	0.094;0.057	B;B	0.26864	0.074;0.042	T	0.27434	-1.0074	9	.	.	.	0.3524	6.6869	0.23150	0.0:0.2006:0.0:0.7994	.	761;776	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	A	761;776;451;776	ENSP00000363453:T761A;ENSP00000379226:T776A;ENSP00000363440:T451A;ENSP00000340995:T776A	.	T	-	1	0	TEX11	69691235	1.000000	0.71417	0.007000	0.13788	0.788000	0.44548	2.115000	0.41921	0.198000	0.20407	0.486000	0.48141	ACA	.		0.368	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			C	69774510	T	C	69774510	3	2	52	1	0	0	0	0	1	0	0	0	15821	1725	60	4	516	4	TEX11	23	69774510	Missense_Mutation	SNP	T	TCGA-OR-A5LJ-01A-11D-A29I-10	4288054	69774510	85496050	680	11331											
MED12	9968	ucsc.edu;bcgsc.ca	37	chrX	70356163	70356163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaaacagaagatctcGccctgggatctttttgaggg	10	11	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:70356163G>A	ENST00000374080.3	+	37	5090	c.5058G>A	c.(5056-5058)tcG>tcA	p.S1686S	MED12_ENST00000374102.1_Silent_p.S1686S|MED12_ENST00000333646.6_Silent_p.S1686S			Q93074	MED12_HUMAN	mediator complex subunit 12	1686	Interaction with CTNNB1 and GLI3.				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)					AGAAGATCTCGCCCTGGGATC	0.512			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.S1686S		.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12-272	0			c.G5058A						.						50	49	49					X																	70356163		1892	4119	6011	SO:0001819	synonymous_variant	9968	exon37			GATCTCGCCCTGG	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.5058G>A	X.37:g.70356163G>A		Somatic	239	2		WXS	Illumina GAIIx	Phase_I	175	143	NM_005120	0	0	0	45	45	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1																																																																																			.		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70356163	G	A	70356163	2	1	52	1	0	0	0	0	0	0	0	1	9466	1074	38	1		1	MED12	23	70356163	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	581653	70356163	84914397	681	11332											
CXCR3	2833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	70836820	70836820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggcaggtgagggtcaCgcgggccgggggcccccggc	20	14	1	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:70836820C>T	ENST00000373693.3	-	2	569	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	CXCR3_ENST00000373691.4_Missense_Mutation_p.V215M	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	168					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GTGAGGGTCAcgcgggccggg	0.657																																					p.V215M		.											.	CXCR3-660	0			c.G643A						.						25	27	27					X																	70836820		2192	4287	6479	SO:0001583	missense	2833	exon2			GGGTCACGCGGGC	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.502G>A	X.37:g.70836820C>T	ENSP00000362797:p.Val168Met	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	171	15	NM_001142797	0	0	6	6	0	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926058	0.34002	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.39056	1.1;1.1	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.071575	0.53938	D	0.000045	T	0.54481	0.1861	L	0.46947	1.48	0.37781	D	0.927028	D;D	0.89917	1.0;1.0	D;D	0.83275	0.962;0.996	T	0.57940	-0.7724	10	0.46703	T	0.11	.	10.2579	0.43408	0.1966:0.8034:0.0:0.0	.	215;168	P49682-2;P49682	.;CXCR3_HUMAN	M	215;168;168	ENSP00000362795:V215M;ENSP00000362797:V168M	ENSP00000362791:V168M	V	-	1	0	CXCR3	70753545	0.000000	0.05858	0.653000	0.29593	0.010000	0.07245	0.235000	0.17948	2.472000	0.83506	0.538000	0.68166	GTG	.		0.657	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			T	70836820	C	T	70836820	3	4	52	1	0	0	0	0	1	0	0	0	4101	536	19	1	608	1	CXCR3	23	70836820	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	480657	70836820	84433740	682	11333											
ZDHHC15	158866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	74636938	74636938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttggttgtcatcctcGttgtcttcccaggtttcttc	7	12	3	0	rs192529997		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:74636938G>A	ENST00000373367.3	-	10	1181	c.951C>T	c.(949-951)aaC>aaT	p.N317N	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Silent_p.N308N	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	317					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TGTCATCCTCGTTGTCTTCCC	0.428													A|||	3	0.000794702	0	0.0043	3775	,	,		15042	0		0	False		,,,				2504	0				p.N317N		.											.	ZDHHC15-132	0			c.C951T						.	A	,	1,3834		0,1,1631,571	283	225	244		924,951	-3.4	0.2	X		244	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	ZDHHC15	NM_001146256.1,NM_144969.2	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	308/329,317/338	74636938	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	158866	exon10			ATCCTCGTTGTCT	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.951C>T	X.37:g.74636938G>A		Somatic	200	0		WXS	Illumina GAIIx	Phase_I	100	76	NM_144969	0	0	0	1	1	B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	ENST00000373367.3	37	CCDS14430.1																																																																																			G|0.998;A|0.002		0.428	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		A	74636938	G	A	74636938	2	1	52	1	0	0	0	0	0	0	0	1	17653	1136	40	1		1	ZDHHC15	23	74636938	Silent	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	3800118	74636938	80633622	683	11334											
ATRX	546	hgsc.bcm.edu	37	chrX	76938582	76938585	+	Frame_Shift_Del	DEL	TGAT	TGAT	-													gaattttgatccacagtctcTgattgcttagattttggcaa							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	TGAT	TGAT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:76938582_76938585delTGAT	ENST00000373344.5	-	9	2377_2380	c.2163_2166delATCA	c.(2161-2166)caatcafs	p.QS721fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QS683fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	721					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCACAGTCTCTGATTGCTTAGATT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.721_722del		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX-248	1	Unknown(1)	bone(1)	c.2163_2166del						.																																			SO:0001589	frameshift_variant	546	exon9			AGTCTCTGATTGC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2163_2166delATCA	X.37:g.76938582_76938585delTGAT	ENSP00000362441:p.Gln721fs	Somatic	39	2		WXS	Illumina GAIIx	Phase_I	28	22	NM_000489	0	0	0	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																			.		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76938585	TGAT	-	76938582	7	5	52	1	0	1	0	1	0	0	0	0	1209	1567	55	0	5420	0	ATRX	23	76938582	Frame_Shift_Del	DEL	TGAT	TCGA-OR-A5LJ-01A-11D-A29I-10	2301644	76938582	78331978	684	11335											
ZNF711	7552	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	84510411	84510413	+	In_Frame_Del	DEL	ATC	ATC	-													aagttgtccatggacctgatAtcatcacagagactgatgta							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	ATC	ATC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:84510411_84510413delATC	ENST00000373165.3	+	4	532_534	c.226_228delATC	c.(226-228)atcdel	p.I77del	ZNF711_ENST00000276123.3_In_Frame_Del_p.I77del|ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000360700.4_In_Frame_Del_p.I77del|ZNF711_ENST00000395402.1_In_Frame_Del_p.I55del	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	77					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGACCTGATATCATCACAGAGA	0.429																																					p.76_76del		.											.	ZNF711-134	0			c.226_228del						.																																			SO:0001651	inframe_deletion	7552	exon4			CCTGATATCATCA	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.226_228delATC	X.37:g.84510414_84510416delATC	ENSP00000362260:p.Ile77del	Somatic	396	0		WXS	Illumina GAIIx	Phase_I	285	47	NM_021998	0	0	0	0	0	B4DSV4|Q6NX42|Q9Y4J6	In_Frame_Del	DEL	ENST00000373165.3	37	CCDS35344.1																																																																																			.		0.429	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		-	84510413	ATC	-	84510411	7	5	52	1	0	1	0	1	0	0	0	0	18164	449	16	0	232	0	ZNF711	23	84510411	In_Frame_Del	DEL	ATC	TCGA-OR-A5LJ-01A-11D-A29I-10	7571829	84510411	70760149	685	11336											
PCDH11X	27328	hgsc.bcm.edu;bcgsc.ca	37	chrX	91132408	91132408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgacggataaggatgCggaccataatggcagggtga	15	6	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:91132408C>T	ENST00000373094.1	+	2	2014	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A390V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A390V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A390V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A390V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A390V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A390V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	390	Cadherin 4. {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						GATAAGGATGCGGACCATAAT	0.413																																					p.A390V	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C1169T						.						99	86	90					X																	91132408		2203	4297	6500	SO:0001583	missense	27328	exon2			AGGATGCGGACCA	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.1169C>T	X.37:g.91132408C>T	ENSP00000362186:p.Ala390Val	Somatic	413	2		WXS	Illumina GAIIx	Phase_I	313	261	NM_001168363	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589812	0.46214	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	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	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.109437	0.64402	D	0.000010	T	0.57213	0.2038	L	0.53671	1.685	0.30983	N	0.722264	P;P;D;D;D;D;P;P	0.56746	0.949;0.578;0.971;0.971;0.971;0.977;0.949;0.949	P;B;P;P;P;P;P;P	0.53809	0.532;0.22;0.562;0.562;0.616;0.735;0.532;0.475	T	0.63963	-0.6518	10	0.54805	T	0.06	.	16.5733	0.84630	0.0:1.0:0.0:0.0	.	390;390;390;390;390;390;390;390	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	390	ENSP00000378746:A390V;ENSP00000362186:A390V;ENSP00000362189:A390V;ENSP00000355040:A390V;ENSP00000362180:A390V;ENSP00000423762:A390V;ENSP00000355105:A390V;ENSP00000384758:A390V;ENSP00000298274:A390V	ENSP00000298274:A390V	A	+	2	0	PCDH11X	91019064	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.826000	0.69293	2.115000	0.64714	0.544000	0.68410	GCG	.		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91132408	C	T	91132408	3	4	52	1	0	0	0	0	1	0	0	0	11547	768	27	1	1175	1	PCDH11X	23	91132408	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	6621997	91132408	64138152	686	11337											
SRPX2	27286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	99905848	99905848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcccacaggctcctgCcctggactaccgaggtaatc	12	14	0	0			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:99905848C>T	ENST00000373004.3	+	3	577	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	50					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						CAGGCTCCTGCCCTGGACTAC	0.493																																					p.A50V		.											.	SRPX2-132	0			c.C149T						.						110	101	104					X																	99905848		2203	4300	6503	SO:0001583	missense	27286	exon3			CTCCTGCCCTGGA	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.149C>T	X.37:g.99905848C>T	ENSP00000362095:p.Ala50Val	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	89	79	NM_014467	0	0	0	0	0	B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599614	0.13939	.	.	ENSG00000102359	ENST00000373004	T	0.28069	1.63	5.56	3.7	0.42460	.	0.606847	0.18330	N	0.144527	T	0.15349	0.0370	N	0.12182	0.205	0.20926	N	0.999828	B	0.13594	0.008	B	0.09377	0.004	T	0.20806	-1.0264	9	.	.	.	-3.2031	8.4826	0.33052	0.0:0.7596:0.1507:0.0897	.	50	O60687	SRPX2_HUMAN	V	50	ENSP00000362095:A50V	.	A	+	2	0	SRPX2	99792504	0.306000	0.24490	0.437000	0.26809	0.192000	0.23643	0.957000	0.29215	1.217000	0.43442	0.600000	0.82982	GCC	.		0.493	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		T	99905848	C	T	99905848	3	4	52	1	0	0	0	0	1	0	0	0	15212	739	26	3	155	3	SRPX2	23	99905848	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	8773440	99905848	55364712	687	11338											
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	109695052	109695052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatgtctgcaccaccaGtaagagctttagattctgga	12	8	2	3			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:109695052G>C	ENST00000465301.2	+	3	1453	c.1207G>C	c.(1207-1209)Gta>Cta	p.V403L	RGAG1_ENST00000540313.1_Missense_Mutation_p.V403L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	403										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGCACCACCAGTAAGAGCTTT	0.507																																					p.V403L		.											.	RGAG1-132	0			c.G1207C						.						195	203	200					X																	109695052		2203	4300	6503	SO:0001583	missense	57529	exon3			CCACCAGTAAGAG	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1207G>C	X.37:g.109695052G>C	ENSP00000419786:p.Val403Leu	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	98	6	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490926	0.26774	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.49432	0.78;0.78	4.06	-0.0615	0.13784	.	1.137840	0.06919	N	0.809084	T	0.42086	0.1187	L	0.50333	1.59	0.09310	N	1	B	0.23806	0.091	B	0.28849	0.095	T	0.38200	-0.9672	9	.	.	.	-0.1124	7.8121	0.29237	0.4628:0.0:0.5372:0.0	.	403	Q8NET4	RGAG1_HUMAN	L	403	ENSP00000419786:V403L;ENSP00000441452:V403L	.	V	+	1	0	RGAG1	109581708	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.014000	0.13333	-0.151000	0.11176	0.600000	0.82982	GTA	.		0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		C	109695052	G	C	109695052	3	2	52	1	0	0	0	0	1	0	0	0	13319	1029	36	3	1209	3	RGAG1	23	109695052	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	9789204	109695052	45575508	688	11339											
SLITRK4	139065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	142717897	142717897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcagaagcaaggtgccGggcaaggtgttagaggaggc	17	6	0	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:142717897G>A	ENST00000381779.4	-	2	1253	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P343L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P343L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	343	LRRNT.					integral component of membrane (GO:0016021)		p.P343L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGGTGCCGGGCAAGGTGT	0.473																																					p.P343L		.											.	SLITRK4-193	1	Substitution - Missense(1)	pancreas(1)	c.C1028T						.						111	101	104					X																	142717897		2203	4300	6503	SO:0001583	missense	139065	exon2			GGTGCCGGGCAAG	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1028C>T	X.37:g.142717897G>A	ENSP00000371198:p.Pro343Leu	Somatic	272	1		WXS	Illumina GAIIx	Phase_I	212	177	NM_001184750	0	0	0	0	0	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355546	0.61293	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57752	0.38;0.38;0.38	5.57	5.57	0.84162	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76440	-0.2958	10	0.87932	D	0	-5.8852	17.1846	0.86863	0.0:0.0:1.0:0.0	.	343	Q8IW52	SLIK4_HUMAN	L	343	ENSP00000371198:P343L;ENSP00000349400:P343L;ENSP00000336627:P343L	ENSP00000336627:P343L	P	-	2	0	SLITRK4	142545563	1.000000	0.71417	0.912000	0.35992	0.875000	0.50365	9.813000	0.99286	2.466000	0.83321	0.594000	0.82650	CCG	.		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		A	142717897	G	A	142717897	3	1	52	1	0	0	0	0	1	0	0	0	14790	1116	39	1	1489	1	SLITRK4	23	142717897	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	33022845	142717897	12552663	689	11340											
FMR1NB	158521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	147090160	147090160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctaaacagatgatgcaaatGtttgggcttggtgcgatcag	12	7	1	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:147090160G>T	ENST00000370467.3	+	4	635	c.561G>T	c.(559-561)atG>atT	p.M187I	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	187						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGCAAATGTTTGGGCTTG	0.388																																					p.M187I		.											.	FMR1NB-131	0			c.G561T						.						216	160	179					X																	147090160		2203	4300	6503	SO:0001583	missense	158521	exon4			GCAAATGTTTGGG		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.561G>T	X.37:g.147090160G>T	ENSP00000359498:p.Met187Ile	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	90	75	NM_152578	0	0	0	0	0	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357313	0.11239	.	.	ENSG00000176988	ENST00000370467	T	0.34667	1.35	5.52	-3.74	0.04385	.	0.816366	0.10603	N	0.655342	T	0.16128	0.0388	N	0.19112	0.55	0.09310	N	1	B	0.28713	0.22	B	0.26416	0.069	T	0.20638	-1.0269	10	0.52906	T	0.07	-1.9275	0.2209	0.00168	0.2528:0.2287:0.1684:0.3501	.	187	Q8N0W7	FMR1N_HUMAN	I	187	ENSP00000359498:M187I	ENSP00000359498:M187I	M	+	3	0	FMR1NB	146897852	0.008000	0.16893	0.002000	0.10522	0.022000	0.10575	-1.504000	0.02275	-0.380000	0.07894	0.544000	0.68410	ATG	.		0.388	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		T	147090160	G	T	147090160	3	4	52	1	0	0	0	0	1	0	0	0	5983	1377	48	3	575	3	FMR1NB	23	147090160	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	4372263	147090160	8180400	690	11341											
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-													aacaagaccgtagtgcacttAaaaaaagggaatgggagcgg							TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aaafs	p.K27fs	AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCACTTAAAAAAAGGGA	0.378																																					p.K26fs		.											.	AFF2-135	0			c.76delA						.						178	171	173					X																	147733548		2203	4300	6503	SO:0001589	frameshift_variant	2334	exon2			GCACTTAAAAAAA	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.76delA	X.37:g.147733548delA	ENSP00000359489:p.Lys27fs	Somatic	315	0		WXS	Illumina GAIIx	Phase_I	277	157	NM_002025	0	0	0	0	0	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Frame_Shift_Del	DEL	ENST00000370460.2	37	CCDS14684.1																																																																																			.		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		-	147733548	A	-	147733548	7	5	52	1	0	1	0	1	0	0	0	0	357	363	13	0	82	0	AFF2	23	147733548	Frame_Shift_Del	DEL	A	TCGA-OR-A5LJ-01A-11D-A29I-10	643388	147733548	7537012	691	11342											
MAGEA11	4110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	148797592	148797592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaggagcaggaggctgCcttcttctcctctactctga	11	12	4	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:148797592C>T	ENST00000355220.5	+	5	548	c.446C>T	c.(445-447)gCc>gTc	p.A149V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.A120V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	149						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGGAGGCTGCCTTCTTCTCC	0.582																																					p.A149V		.											.	MAGEA11-132	0			c.C446T						.						45	43	44					X																	148797592		2203	4300	6503	SO:0001583	missense	4110	exon5			AGGCTGCCTTCTT		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.446C>T	X.37:g.148797592C>T	ENSP00000347358:p.Ala149Val	Somatic	301	0		WXS	Illumina GAIIx	Phase_I	198	163	NM_005366	0	0	0	0	0	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	12.53	1.965553	0.34659	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04454	3.62;3.62;3.62	0.871	0.871	0.19107	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.07728	0.0194	L	0.42686	1.345	0.09310	N	1	P;P	0.42908	0.513;0.793	P;P	0.49953	0.493;0.627	T	0.37009	-0.9724	8	0.27082	T	0.32	.	.	.	.	.	120;149	G5E962;P43364	.;MAGAB_HUMAN	V	120;120;149	ENSP00000391496:A120V;ENSP00000328177:A120V;ENSP00000347358:A149V	ENSP00000328177:A120V	A	+	2	0	MAGEA11	148576813	0.022000	0.18835	0.015000	0.15790	0.018000	0.09664	1.314000	0.33597	0.704000	0.31869	0.429000	0.28392	GCC	.		0.582	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		T	148797592	C	T	148797592	3	4	52	1	0	0	0	0	1	0	0	0	9201	739	26	3	473	3	MAGEA11	23	148797592	Missense_Mutation	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	1064044	148797592	6472968	692	11343											
CD99L2	83692	broad.mit.edu	37	chrX	149999704	149999704	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgatttactactcacGctttactgaggaagtttctt	6	7	2	2			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:149999704G>A	ENST00000370377.3	-	2	247	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CD99L2_ENST00000437787.2_Splice_Site_p.Q44*|CD99L2_ENST00000355149.3_Splice_Site_p.R44*|CD99L2_ENST00000320893.6_Splice_Site_p.P44S|CD99L2_ENST00000466436.1_Splice_Site_p.Q44*|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	44					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACTACTCACGCTTTACTGAG	0.289																																					p.Q44X		.											.	CD99L2-195	0			c.C130T						.						94	88	90					X																	149999704		2203	4299	6502	SO:0001630	splice_region_variant	83692	exon2			ACTCACGCTTTAC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.130+1C>T	X.37:g.149999704G>A		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	25	3	NM_001242614	0	0	0	0	0	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Nonsense_Mutation	SNP	ENST00000370377.3	37	CCDS35427.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.9|28.9|28.9	4.961103|4.961103|4.961103	0.92791|0.92791|0.92791	.|.|.	.|.|.	ENSG00000102181|ENSG00000102181|ENSG00000102181	ENST00000320893|ENST00000370377;ENST00000438086;ENST00000437787;ENST00000466436;ENST00000418547|ENST00000355149	.|.|.	.|.|.	.|.|.	4.52|4.52|4.52	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|0.193628|.	.|0.23296|.	.|U|.	.|0.049731|.	T|.|.	0.63827|.|.	0.2544|.|.	.|.|.	.|.|.	.|.|.	0.49582|0.49582|0.49582	D|D|D	0.999802|0.999802|0.999802	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|.	0.62651|.|.	-0.6809|.|.	4|.|.	.|.|.	.|.|.	.|.|.	.|.|.	12.2924|12.2924|12.2924	0.54825|0.54825|0.54825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	S|X|X	44|44;44;44;44;7|44	.|.|.	.|.|.	P|Q|R	-|-|-	1|1|1	0|0|2	CD99L2|CD99L2|CD99L2	149750362|149750362|149750362	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.799000|0.799000|0.799000	0.45148|0.45148|0.45148	2.487000|2.487000|2.487000	0.45268|0.45268|0.45268	2.193000|2.193000|2.193000	0.70182|0.70182|0.70182	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	CCT|CAG|CGA	.		0.289	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462	Nonsense_Mutation	A	149999704	G	A	149999704	5	1	52	1	0	0	0	0	0	0	1	0	3058	1101	38	1	698	1	CD99L2	23	149999704	Splice_Site	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	1202112	149999704	5270856	693	11344											
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	152815531	152815531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggcgccctcccacGccaggtgggcaataagacgg	15	12	0	1			TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:152815531G>A	ENST00000349466.2	+	11	1936	c.1610G>A	c.(1609-1611)cGc>cAc	p.R537H	ATP2B3_ENST00000370181.2_Missense_Mutation_p.R523H|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R523H|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R537H|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R523H|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R537H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	537					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTCCCACGCCAGGTGGGC	0.657																																					p.R537H		.											.	ATP2B3-109	0			c.G1610A						.						45	34	38					X																	152815531		2203	4300	6503	SO:0001583	missense	492	exon10			TCCCACGCCAGGT	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1610G>A	X.37:g.152815531G>A	ENSP00000343886:p.Arg537His	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	102	86	NM_001001344	1	0	0	25	24	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.286170	0.80803	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.118254	0.56097	N	0.000022	T	0.58323	0.2114	L	0.35288	1.05	0.27498	N	0.952086	P;B	0.36874	0.572;0.335	B;B	0.34824	0.19;0.076	T	0.61028	-0.7145	10	0.66056	D	0.02	-10.3159	10.3979	0.44211	0.0935:0.0:0.9065:0.0	.	537;537	Q16720;Q16720-2	AT2B3_HUMAN;.	H	523;537;523;537;537;523	ENSP00000359205:R523H;ENSP00000343886:R537H;ENSP00000377425:R523H;ENSP00000352062:R537H;ENSP00000263519:R537H;ENSP00000359200:R523H	ENSP00000263519:R537H	R	+	2	0	ATP2B3	152468725	0.432000	0.25554	1.000000	0.80357	0.996000	0.88848	2.554000	0.45845	2.197000	0.70478	0.592000	0.82586	CGC	.		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		A	152815531	G	A	152815531	3	1	52	1	0	0	0	0	1	0	0	0	1142	1087	38	1	1648	1	ATP2B3	23	152815531	Missense_Mutation	SNP	G	TCGA-OR-A5LJ-01A-11D-A29I-10	2815827	152815531	2455029	694	11345											
GDI1	2664	broad.mit.edu;bcgsc.ca	37	chrX	153669455	153669455	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccacagattgagtgccatCtatggggggacatatatgct	11	9	1	2	rs201655775		TCGA-OR-A5LJ-01A-11D-A29I-10	TCGA-OR-A5LJ-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6c34287-1788-487a-a5e2-0d5e329894ee	096a0d03-997c-4951-9168-94d78bccc493	g.chrX:153669455C>A	ENST00000447750.2	+	7	1067	c.732C>A	c.(730-732)atC>atA	p.I244I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	244					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)					TGAGTGCCATCTATGGGGGGA	0.557																																					p.I244I		.											.	GDI1-90	0			c.C732A						.						145	126	133					X																	153669455		2203	4300	6503	SO:0001819	synonymous_variant	2664	exon7			TGCCATCTATGGG	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.732C>A	X.37:g.153669455C>A		Somatic	125	0		WXS	Illumina GAIIx	Phase_I	66	9	NM_001493	0	0	4	6	2	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	CCDS35452.1																																																																																			.		0.557	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		A	153669455	C	A	153669455	2	1	52	1	0	0	0	0	0	0	0	1	6346	903	32	3		3	GDI1	23	153669455	Silent	SNP	C	TCGA-OR-A5LJ-01A-11D-A29I-10	853924	153669455	1601105	695	11346											
NOL9	79707	broad.mit.edu;bcgsc.ca	37	chr1	6610521	6610521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccttcttgcttttctcaGgctgtgagtagtgaagtgca	11	8	2	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:6610521G>T	ENST00000377705.5	-	2	583	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	184					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)		GCTTTTCTCAGGCTGTGAGTA	0.448																																					p.P184H		.											.	NOL9-515	0			c.C551A						.						141	140	140					1																	6610521		2203	4300	6503	SO:0001583	missense	79707	exon2			TTCTCAGGCTGTG	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.551C>A	1.37:g.6610521G>T	ENSP00000366934:p.Pro184His	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	84	6	NM_024654	0	0	1	1	0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885766	0.17540	.	.	ENSG00000162408	ENST00000377705	T	0.47528	0.84	5.23	3.32	0.38043	.	0.271433	0.28016	N	0.016925	T	0.29423	0.0733	N	0.22421	0.69	0.34871	D	0.743553	B	0.18741	0.03	B	0.14578	0.011	T	0.26985	-1.0087	10	0.13470	T	0.59	-11.8073	10.1226	0.42630	0.0:0.1419:0.6947:0.1634	.	184	Q5SY16	NOL9_HUMAN	H	184	ENSP00000366934:P184H	ENSP00000366934:P184H	P	-	2	0	NOL9	6533108	0.713000	0.27926	0.949000	0.38748	0.048000	0.14542	3.024000	0.49674	0.731000	0.32448	0.555000	0.69702	CCT	.		0.448	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6610521	G	T	6610521	3	4	53	1	0	0	0	0	1	0	0	0	10567	1000	35	3	1601	3	NOL9	1	6610521	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		6610521	242640100	1	11347											
HNRNPCL1	343069	bcgsc.ca	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagctggtcatcccccTgatcttcattaacatcatca	4	15	5	1	rs74587302|rs559905244	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	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		.											.	HNRNPCL1-68	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	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	86	9	NM_001013631	0	0	0	0	0	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	53	1	0	0	0	0	1	0	0	0	7290	1580	55	4	98	4	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	6296837	12907358	236343263	2	11348											
ARHGEF19	128272	bcgsc.ca	37	chr1	16534646	16534646	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttgcactacctggcCaggctctaggaagacagcgt	11	13	2	1	rs221058	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:16534646C>G	ENST00000270747.3	-	3	623	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	163			G -> R (in dbSNP:rs221058). {ECO:0000269|PubMed:14702039}.		regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGCCAGGCTCTAGG	0.657													C|||	1222	0.24401	0.0862	0.3948	5008	,	,		16480	0.1528		0.2654	False		,,,				2504	0.4223				p.G163R		.											.	ARHGEF19-229	0			c.G487C						.	C	ARG/GLY	453,3953	209.2+/-230.0	35,383,1785	56	61	59		487	2.1	1	1	dbSNP_79	59	2233,6367	370.2+/-335.8	295,1643,2362	yes	missense	ARHGEF19	NM_153213.3	125	330,2026,4147	GG,GC,CC		25.9651,10.2814,20.652	benign	163/803	16534646	2686,10320	2203	4300	6503	SO:0001583	missense	128272	exon3			CCTGGCCAGGCTC	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.487G>C	1.37:g.16534646C>G	ENSP00000270747:p.Gly163Arg	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	148	5	NM_153213	0	0	0	0	0	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	CCDS170.1	450	0.20604395604395603	47	0.09552845528455285	118	0.3259668508287293	74	0.12937062937062938	211	0.2783641160949868	C	10.83	1.459937	0.26248	0.102814	0.259651	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.50001	0.76;0.76	5.21	2.13	0.27403	.	1.238380	0.05817	N	0.615075	T	0.00012	0.0000	L	0.32530	0.975	0.45390	P	0.001623000000000041	B	0.15719	0.014	B	0.14578	0.011	T	0.31138	-0.9954	9	0.30078	T	0.28	.	6.6718	0.23072	0.0:0.6669:0.0:0.3331	rs221058;rs221058	163	Q8IW93	ARHGJ_HUMAN	R	163	ENSP00000270747:G163R;ENSP00000396001:G163R	ENSP00000270747:G163R	G	-	1	0	ARHGEF19	16407233	0.296000	0.24398	0.967000	0.41034	0.118000	0.20060	0.673000	0.25203	0.220000	0.20860	0.561000	0.74099	GGC	C|0.794;G|0.206		0.657	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		G	16534646	C	G	16534646	3	3	53	1	0	0	0	0	1	0	0	0	902	594	21	3	1977	3	ARHGEF19	1	16534646	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	3627288	16534646	232715975	3	11349											
PLA2G2C	391013	bcgsc.ca	37	chr1	20501582	20501582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgagaagaaggcacttcGccccgtgatgtgtttgaccc	11	10	0	4	rs12139100	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:20501582G>A	ENST00000429261.2	-	2	157	c.97C>T	c.(97-99)Cga>Tga	p.R33*	PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000247992.5_Nonsense_Mutation_p.R36*			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	33					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)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGGCACTTCGCCCCGTGATG	0.532													G|||	1203	0.240216	0.2829	0.121	5008	,	,		18086	0.1766		0.1839	False		,,,				2504	0.3906				p.R36X		.											.	PLA2G2C-68	0			c.C106T						.	G	stop/ARG	979,2931		124,731,1100	99	103	101		106	-0.9	0.1	1	dbSNP_120	101	1469,6879		122,1225,2827	yes	stop-gained	PLA2G2C	NM_001105572.1		246,1956,3927	AA,AG,GG		17.597,25.0384,19.9706		36/151	20501582	2448,9810	1955	4174	6129	SO:0001587	stop_gained	391013	exon1			CACTTCGCCCCGT			1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"phospholipase A2, group IIC (possible pseudogene)"			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.97C>T	1.37:g.20501582G>A	ENSP00000389335:p.Arg33*	Somatic	242	2		WXS	Illumina GAIIx	Phase_I	188	9	NM_001105572	0	0	0	0	0	Q7M4M6	Nonsense_Mutation	SNP	ENST00000429261.2	37		403	0.18452380952380953	119	0.241869918699187	45	0.12430939226519337	94	0.16433566433566432	145	0.19129287598944592	G	18.40	3.615689	0.66672	0.250384	0.17597	ENSG00000187980	ENST00000429261;ENST00000247992	.	.	.	5.13	-0.89	0.10577	.	0.311359	0.23189	N	0.050933	.	.	.	.	.	.	0.09310	P	0.999999999909794	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	4.7511	0.13061	0.1801:0.0:0.3081:0.5118	rs12139100;rs57362211;rs12139100	.	.	.	X	33;36	.	ENSP00000247992:R36X	R	-	1	2	PLA2G2C	20374169	0.033000	0.19621	0.057000	0.19452	0.256000	0.26092	0.198000	0.17217	-0.055000	0.13244	-0.751000	0.03497	CGA	G|0.802;A|0.198		0.532	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		A	20501582	G	A	20501582	4	1	53	1	0	0	0	0	0	1	0	0	12035	1095	38	1	358	1	PLA2G2C	1	20501582	Nonsense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	3966936	20501582	228749039	4	11350											
MUL1	79594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	20828581	20828581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggtgggtggttcgatTccacaccatcttgtgctcct	10	12	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:20828581T>C	ENST00000264198.3	-	3	446	c.310A>G	c.(310-312)Aat>Gat	p.N104D		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	104					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GTGGTTCGATTCCACACCATC	0.507																																					p.N104D		.											.	MUL1-90	0			c.A310G						.						153	146	149					1																	20828581		2203	4300	6503	SO:0001583	missense	79594	exon3			TTCGATTCCACAC	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.310A>G	1.37:g.20828581T>C	ENSP00000264198:p.Asn104Asp	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	130	26	NM_024544	0	0	1	2	1	B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	CCDS208.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754767	0.89843	.	.	ENSG00000090432	ENST00000264198	T	0.30182	1.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56559	-0.7959	10	0.56958	D	0.05	-31.0143	14.7743	0.69713	0.0:0.0:0.0:1.0	.	104	Q969V5	MUL1_HUMAN	D	104	ENSP00000264198:N104D	ENSP00000264198:N104D	N	-	1	0	MUL1	20701168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.598000	0.82745	2.371000	0.80710	0.533000	0.62120	AAT	.		0.507	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		C	20828581	T	C	20828581	3	2	53	1	0	0	0	0	1	0	0	0	10022	1783	62	4	756	4	MUL1	1	20828581	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	326999	20828581	228422040	5	11351											
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	22182300	22182300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccactcgagggtgggcGtggggctccctgtggcgctg	18	12	0	0	rs151035968		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:22182300G>A	ENST00000374695.3	-	45	5760	c.5681C>T	c.(5680-5682)aCg>aTg	p.T1894M	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1894	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GAGGGTGGGCGTGGGGCTCCC	0.667																																					p.T1894M		.											.	HSPG2-141	0			c.C5681T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	37	37	37		5681	2.3	0.8	1	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	1894/4392	22182300	2,13004	2203	4300	6503	SO:0001583	missense	3339	exon45			GTGGGCGTGGGGC	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.5681C>T	1.37:g.22182300G>A	ENSP00000363827:p.Thr1894Met	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	61	42	NM_005529	0	0	0	0	0	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.215071	0.39102	2.27E-4	1.16E-4	ENSG00000142798	ENST00000374695	T	0.68624	-0.34	5.24	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.574006	0.14494	N	0.316190	T	0.59432	0.2193	L	0.53671	1.685	0.31361	N	0.681397	B	0.24043	0.096	B	0.26864	0.074	T	0.57207	-0.7851	10	0.34782	T	0.22	.	9.198	0.37240	0.2455:0.0:0.7545:0.0	.	1894	P98160	PGBM_HUMAN	M	1894	ENSP00000363827:T1894M	ENSP00000363827:T1894M	T	-	2	0	HSPG2	22054887	0.571000	0.26659	0.847000	0.33407	0.762000	0.43233	1.150000	0.31639	0.219000	0.20840	0.558000	0.71614	ACG	G|1.000;T|0.000		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22182300	G	A	22182300	3	1	53	1	0	0	0	0	1	0	0	0	7457	1145	40	1	7706	1	HSPG2	1	22182300	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	1353719	22182300	227068321	6	11352											
SEPN1	57190	bcgsc.ca	37	chr1	26138262	26138262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatcgacagccacctgccTtcaggggagcccctgcagtt	11	14	1	1	rs760597	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:26138262T>C	ENST00000374315.1	+	8	1109	c.1071T>C	c.(1069-1071)ccT>ccC	p.P357P	SEPN1_ENST00000354177.4_Silent_p.P357P|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000361547.2_Silent_p.P391P	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	391						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.P391P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|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;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCTGCCTTCAGGGGAGC	0.642													C|||	3966	0.791933	0.5575	0.8516	5008	,	,		18488	0.9683		0.7753	False		,,,				2504	0.9018				.		.											.	SEPN1-92	1	Substitution - coding silent(1)	prostate(1)	.						.	C	,	2631,1521		845,941,290	25	27	26		1173,1071	4.1	1	1	dbSNP_86	26	6650,1788		2621,1408,190	no	coding-synonymous,coding-synonymous	SEPN1	NM_020451.2,NM_206926.1	,	3466,2349,480	CC,CT,TT		21.1899,36.6329,26.2828	,	391/591,357/557	26138262	9281,3309	2076	4219	6295	SO:0001819	synonymous_variant	57190	.			CCTGCCTTCAGGG	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1071T>C	1.37:g.26138262T>C		Somatic	366	3		WXS	Illumina GAIIx	Phase_I	338	12	.	0	0	5	5	0	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	CCDS41283.1																																																																																			T|0.001;G|0.786;C|0.007;A|0.206		0.642	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		C	26138262	T	C	26138262	2	2	53	1	0	0	0	0	0	0	0	1	14101	1596	56	4		4	SEPN1	1	26138262	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	3955962	26138262	223112359	7	11353											
CSF1	1435	bcgsc.ca	37	chr1	110466338	110466338	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagatgtaactggtacCgccttgcccagggtgggccc	14	14	0	1	rs333970	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:110466338C>A	ENST00000329608.6	+	6	1486	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.T365T|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	365					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)		TAACTGGTACCGCCTTGCCCA	0.632											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2154	0.430112	0.1067	0.5749	5008	,	,		17431	0.4018		0.6213	False		,,,				2504	0.5971				p.T365T		.											.	CSF1-91	0			c.C1095A						.	C	,,,	843,3563	328.8+/-300.7	89,665,1449	55	56	56		1095,,,1095	-3.9	0	1	dbSNP_79	56	5200,3400	632.1+/-398.6	1572,2056,672	no	coding-synonymous,intron,intron,coding-synonymous	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	,,,	1661,2721,2121	AA,AC,CC		39.5349,19.133,46.4632	,,,	365/555,,,365/555	110466338	6043,6963	2203	4300	6503	SO:0001819	synonymous_variant	1435	exon6			TGGTACCGCCTTG	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.1095C>A	1.37:g.110466338C>A		Somatic	160	0	1427	WXS	Illumina GAIIx	Phase_I	126	5	NM_000757	0	0	4	4	0	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	CCDS816.1																																																																																			C|0.554;A|0.446		0.632	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		A	110466338	C	A	110466338	2	1	53	1	0	0	0	0	0	0	0	1	3940	639	23	2		2	CSF1	1	110466338	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	84328076	110466338	138784283	8	11354											
KCNN3	3782	broad.mit.edu	37	chr1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCTGCT													ctgagacaggggatgcggtgINSgctgctgctgctgctgctgc					rs56352724|rs3831942|rs367921715|rs58327065		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:154842199_154842200insGCTGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGCAGC	c.(241-243)cca>cAGCAGCAGCca	p.80_81insQQQ	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	80	Gln-rich.		Missing.		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)	p.Q80_P81insQQ(2)		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)	GGGATGCGGTGgctgctgctgc	0.698																																					p.P81delinsQQQP		.											.	KCNN3-91	2	Insertion - In frame(2)	prostate(2)	c.242_243insAGCAGCAGC						.																																			SO:0001652	inframe_insertion	3782	exon1			TGCGGTGGCTGCT	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.233_241dupAGCAGCAGC	1.37:g.154842200_154842208dupGCTGCTGCT	ENSP00000271915:p.Gln78_Gln80dup	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	65	14	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		GCTGCTGCT	154842200	-	GCTGCTGCT	154842199	7	5	53	1	0	1	1	0	0	0	0	0	8107	1348	47	0	2007	0	KCNN3	1	154842199	In_Frame_Ins	INS	-	TCGA-OR-A5LK-01A-11D-A29I-10	44375861	154842199	94408422	9	11355											
HSPA6	3310	bcgsc.ca	37	chr1	161495885	161495885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccagatagaggtgacTtttgacattgatgctaatgg	11	8	0	5	rs404508	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:161495885T>C	ENST00000309758.4	+	1	1850	c.1437T>C	c.(1435-1437)acT>acC	p.T479T	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	479					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAGAGGTGACTTTTGACATTG	0.552													C|||	4012	0.801118	0.7791	0.7233	5008	,	,		20105	0.9117		0.7883	False		,,,				2504	0.7853				p.T479T		.											.	HSPA6-226	0			c.T1437C						.	C		3495,911		1377,741,85	69	64	66		1437	1.6	0.9	1	dbSNP_80	66	6462,2138		2425,1612,263	no	coding-synonymous	HSPA6	NM_002155.3		3802,2353,348	CC,CT,TT		24.8605,20.6764,23.443		479/644	161495885	9957,3049	2203	4300	6503	SO:0001819	synonymous_variant	3310	exon1			GGTGACTTTTGAC		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1437T>C	1.37:g.161495885T>C		Somatic	452	2		WXS	Illumina GAIIx	Phase_I	331	9	NM_002155	0	14	2	16	0	Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	CCDS1231.1																																																																																			T|0.179;G|0.216;C|0.555;A|0.050		0.552	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		C	161495885	T	C	161495885	2	2	53	1	0	0	0	0	0	0	0	1	7442	1596	56	4		4	HSPA6	1	161495885	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	6653686	161495885	87754736	10	11356											
TNR	7143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	175365862	175365862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagagatcacatattccGtcactgccatcggcccgtcc	9	14	2	1	rs138654492		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:175365862G>A	ENST00000367674.2	-	5	1766	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TNR_ENST00000263525.2_Missense_Mutation_p.T353M			Q92752	TENR_HUMAN	tenascin R	353	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATATTCCGTCACTGCCAT	0.617																																					p.T353M		.											.	TNR-324	0			c.C1058T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83	83	83		1058	6	1	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/1359	175365862	1,13005	2203	4300	6503	SO:0001583	missense	7143	exon5			TATTCCGTCACTG	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1058C>T	1.37:g.175365862G>A	ENSP00000356646:p.Thr353Met	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	100	13	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905250	0.92035	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.60171	0.21;0.21	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055941	0.64402	D	0.000001	T	0.77805	0.4185	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76277	-0.3018	10	0.46703	T	0.11	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	353	Q92752	TENR_HUMAN	M	353	ENSP00000356646:T353M;ENSP00000263525:T353M	ENSP00000263525:T353M	T	-	2	0	TNR	173632485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	ACG	G|1.000;A|0.000		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175365862	G	A	175365862	3	1	53	1	0	0	0	0	1	0	0	0	16385	1145	40	1	3094	1	TNR	1	175365862	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	13869977	175365862	73884759	11	11357											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186092228	186092228	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgtggaatctatccgccaGcgcgtcctcagctctggctc	10	14	3	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:186092228G>C	ENST00000271588.4	+	81	12604	c.12375G>C	c.(12373-12375)caG>caC	p.Q4125H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4125H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4125	Ig-like C2-type 40.				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						CTATCCGCCAGCGCGTCCTCA	0.537																																					p.Q4125H		.											.	HMCN1-113	0			c.G12375C						.						101	78	86					1																	186092228		2203	4300	6503	SO:0001583	missense	83872	exon81			CCGCCAGCGCGTC	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.12375G>C	1.37:g.186092228G>C	ENSP00000271588:p.Gln4125His	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	103	33	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538323	0.65085	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.16;-0.16	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178723	0.49916	D	0.000128	T	0.55609	0.1931	N	0.04746	-0.17	0.47994	D	0.999567	D	0.67145	0.996	P	0.60789	0.879	T	0.54166	-0.8334	10	0.15499	T	0.54	.	15.3266	0.74168	0.0686:0.0:0.9314:0.0	.	4125	Q96RW7	HMCN1_HUMAN	H	4125	ENSP00000271588:Q4125H;ENSP00000356462:Q4125H	ENSP00000271588:Q4125H	Q	+	3	2	HMCN1	184358851	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	2.821000	0.48065	2.768000	0.95171	0.655000	0.94253	CAG	.		0.537	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186092228	G	C	186092228	3	2	53	1	0	0	0	0	1	0	0	0	7247	962	34	3	12697	3	HMCN1	1	186092228	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	10726366	186092228	63158393	12	11358											
OR2T12	127064	bcgsc.ca	37	chr1	248457979	248457979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacacacgtccccagccacCgtttcagggcttccttgacc	7	17	1	1	rs6667171	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:248457979C>A	ENST00000317996.1	-	1	901	c.902G>T	c.(901-903)cGg>cTg	p.R301L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	301			R -> L (in dbSNP:rs6667171).			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)			CCCCAGCCACCGTTTCAGGGC	0.453													N|||	3980	0.794728	0.7496	0.7608	5008	,	,		19195	0.8591		0.7177	False		,,,				2504	0.8926				p.R301L		.											.	OR2T12-71	0			c.G902T						.	T	LEU/ARG	3382,1024	728.5+/-409.9	1274,834,95	165	160	162		902	-1.1	0	1	dbSNP_116	162	6434,2166	713.1+/-405.9	2427,1580,293	no	missense	OR2T12	NM_001004692.1	102	3701,2414,388	AA,AC,CC		25.186,23.241,24.5271	benign	301/321	248457979	9816,3190	2203	4300	6503	SO:0001583	missense	127064	exon1			AGCCACCGTTTCA	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.902G>T	1.37:g.248457979C>A	ENSP00000324583:p.Arg301Leu	Somatic	270	3		WXS	Illumina GAIIx	Phase_I	252	7	NM_001004692	0	0	0	0	0		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	1674	0.7664835164835165	364	0.7398373983739838	256	0.7071823204419889	490	0.8566433566433567	564	0.7440633245382586	c	9.029	0.986776	0.18889	0.76759	0.74814	ENSG00000177201	ENST00000317996	T	0.40225	1.04	1.25	-1.12	0.09808	.	1.589820	0.05228	U	0.509856	T	0.00012	0.0000	M	0.63208	1.945	0.80722	P	0.0	B	0.14438	0.01	B	0.15870	0.014	T	0.46693	-0.9173	9	0.87932	D	0	.	5.2518	0.15527	0.0:0.5861:0.0:0.4139	rs6667171	301	Q8NG77	O2T12_HUMAN	L	301	ENSP00000324583:R301L	ENSP00000324583:R301L	R	-	2	0	OR2T12	246524602	0.000000	0.05858	0.002000	0.10522	0.175000	0.22909	-1.839000	0.01686	-0.207000	0.10187	0.175000	0.17021	CGG	C|0.242;A|0.758		0.453	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		A	248457979	C	A	248457979	3	1	53	1	0	0	0	0	1	0	0	0	11058	652	23	2	63	2	OR2T12	1	248457979	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	62365751	248457979	792642	13	11359											
OR2M7	391196	bcgsc.ca	37	chr1	248487638	248487638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgaaggccatcttgggtAcagtggtgcagatgagcatg	15	6	1	3	rs7555310	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr1:248487638A>G	ENST00000317965.2	-	1	261	c.233T>C	c.(232-234)gTa>gCa	p.V78A		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	78			V -> A (in dbSNP:rs7555310).			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(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTGGGTACAGTGGTGCA	0.498													a|||	4009	0.800519	0.77	0.7651	5008	,	,		21843	0.8601		0.7117	False		,,,				2504	0.8967				p.V78A		.											.	OR2M7-70	0			c.T233C						.	A	ALA/VAL	3420,986	732.6+/-410.4	1321,778,104	281	269	274		233	0	0.9	1	dbSNP_116	274	6420,2180	712.3+/-405.9	2414,1592,294	no	missense	OR2M7	NM_001004691.1	64	3735,2370,398	GG,GA,AA		25.3488,22.3786,24.3426	possibly-damaging	78/313	248487638	9840,3166	2203	4300	6503	SO:0001583	missense	391196	exon1			TTGGGTACAGTGG	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.233T>C	1.37:g.248487638A>G	ENSP00000324557:p.Val78Ala	Somatic	290	1		WXS	Illumina GAIIx	Phase_I	216	9	NM_001004691	0	0	0	0	0	B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	CCDS31111.1	1672	0.7655677655677655	364	0.7398373983739838	260	0.7182320441988951	490	0.8566433566433567	558	0.7361477572559367	A	12.09	1.833168	0.32421	0.776214	0.746512	ENSG00000177186	ENST00000317965	T	0.04917	3.53	1.54	-0.0112	0.13993	GPCR, rhodopsin-like superfamily (1);	0.303544	0.17742	U	0.163532	T	0.00012	0.0000	M	0.62088	1.915	0.80722	P	0.0	D	0.54964	0.969	P	0.52514	0.701	T	0.07578	-1.0765	9	0.72032	D	0.01	.	7.0716	0.25181	0.7737:0.2263:0.0:0.0	rs7555310;rs52824261;rs59109346;rs7555310	78	Q8NG81	OR2M7_HUMAN	A	78	ENSP00000324557:V78A	ENSP00000324557:V78A	V	-	2	0	OR2M7	246554261	0.000000	0.05858	0.903000	0.35520	0.318000	0.28184	0.285000	0.18883	0.703000	0.31848	0.155000	0.16302	GTA	A|0.247;G|0.753		0.498	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		G	248487638	A	G	248487638	3	3	53	1	0	0	0	0	1	0	0	0	11053	391	14	4	708	4	OR2M7	1	248487638	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	29659	248487638	762983	14	11360											
PLB1	151056	bcgsc.ca	37	chr2	28827533	28827533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccagagcagcatgcgCgagctggtggggtcaggccg	17	12	1	1	rs146023795	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr2:28827533C>T	ENST00000327757.5	+	41	2912	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000422425.2_Silent_p.R945R	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	956	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCAGCATGCGCGAGCTGGTGG	0.637													C|||	35	0.00698882	0.0023	0.0043	5008	,	,		18259	0		0.0209	False		,,,				2504	0.0082				p.R956R		.											.	PLB1-141	0			c.C2868T						.	C	,	10,4396	17.9+/-39.9	0,10,2193	104	86	92		2835,2868	-10.8	0	2	dbSNP_134	92	72,8528	42.2+/-99.7	0,72,4228	no	coding-synonymous,coding-synonymous	PLB1	NM_001170585.1,NM_153021.4	,	0,82,6421	TT,TC,CC		0.8372,0.227,0.6305	,	945/1448,956/1459	28827533	82,12924	2203	4300	6503	SO:0001819	synonymous_variant	151056	exon41			CATGCGCGAGCTG		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2868C>T	2.37:g.28827533C>T		Somatic	171	0		WXS	Illumina GAIIx	Phase_I	119	6	NM_153021	0	0	0	0	0	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	17	0.007783882783882784	0	0.0	2	0.0055248618784530384	0	0.0	15	0.01978891820580475	C	3.123	-0.180047	0.06380	0.00227	0.008372	ENSG00000163803	ENST00000404858	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.12390	0.0301	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.15607	-1.0431	4	.	.	.	-3.2672	8.7579	0.34656	0.0794:0.3128:0.4975:0.1102	.	.	.	.	V	944	.	.	A	+	2	0	PLB1	28681037	0.000000	0.05858	0.027000	0.17364	0.556000	0.35491	-8.051000	0.00025	-3.188000	0.00220	-3.030000	0.00073	GCG	C|0.993;T|0.007		0.637	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			T	28827533	C	T	28827533	2	4	53	1	0	0	0	0	0	0	0	1	12063	755	27	1		1	PLB1	2	28827533	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		28827533	214371840	15	11361											
ADD2	119	broad.mit.edu	37	chr2	70918047	70918047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacaggcaggaggccccaCttcatggccgacaccttaga	12	13	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr2:70918047C>A	ENST00000264436.4	-	8	1164	c.720G>T	c.(718-720)aaG>aaT	p.K240N	ADD2_ENST00000430656.1_Missense_Mutation_p.K256N|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000355733.3_Missense_Mutation_p.K240N|ADD2_ENST00000407644.2_Missense_Mutation_p.K240N|ADD2_ENST00000413157.2_Missense_Mutation_p.K240N	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	240					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGAGGCCCCACTTCATGGCCG	0.587																																					p.K256N		.											.	ADD2-93	0			c.G768T						.						73	62	65					2																	70918047		2203	4300	6503	SO:0001583	missense	119	exon7			GCCCCACTTCATG	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.720G>T	2.37:g.70918047C>A	ENSP00000264436:p.Lys240Asn	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	109	4	NM_001185055	0	0	0	0	0	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052866	0.75960	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.13	5.13	0.70059	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.67953	2.075	0.54753	D	0.999987	D;D;D;D	0.76494	0.999;0.994;0.986;0.998	D;P;D;D	0.74348	0.983;0.88;0.93;0.959	T	0.18681	-1.0329	10	0.87932	D	0	-39.3853	9.7751	0.40614	0.0:0.9083:0.0:0.0917	.	256;240;240;240	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	N	240;240;240;240;240;240;256	ENSP00000264436:K240N;ENSP00000384677:K240N;ENSP00000347972:K240N;ENSP00000388072:K240N;ENSP00000398112:K256N	ENSP00000264436:K240N	K	-	3	2	ADD2	70771555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.968000	0.40500	2.823000	0.97156	0.650000	0.86243	AAG	.		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70918047	C	A	70918047	3	1	53	1	0	0	0	0	1	0	0	0	305	564	20	3	1673	3	ADD2	2	70918047	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	42090514	70918047	172281326	16	11362											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	162820668	162820668	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgataggataaagctcttCtggatgccggcaaaacatca	9	8	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr2:162820668C>T	ENST00000446997.1	+	22	2979	c.2886C>T	c.(2884-2886)ttC>ttT	p.F962F	SLC4A10_ENST00000415876.2_Silent_p.F932F|SLC4A10_ENST00000272716.5_Silent_p.F932F|SLC4A10_ENST00000375514.5_Silent_p.F943F|SLC4A10_ENST00000421911.1_Silent_p.F962F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	962					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)	TAAAGCTCTTCTGGATGCCGG	0.363																																					p.F962F		.											.	SLC4A10-229	0			c.C2886T						.						64	57	59					2																	162820668		1835	4088	5923	SO:0001819	synonymous_variant	57282	exon22			GCTCTTCTGGATG		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.2886C>T	2.37:g.162820668C>T		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	33	7	NM_001178015	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																			.		0.363	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		T	162820668	C	T	162820668	2	4	53	1	0	0	0	0	0	0	0	1	14696	912	32	3		3	SLC4A10	2	162820668	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	91902621	162820668	80378705	17	11363											
XIRP1	165904	bcgsc.ca	37	chr3	39230386	39230386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccctgcacatctccgctgGctgcaggctccctcacagtg	9	17	2	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:39230386G>T	ENST00000340369.3	-	2	779	c.551C>A	c.(550-552)gCc>gAc	p.A184D	XIRP1_ENST00000396251.1_Missense_Mutation_p.A184D|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	184					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCCGCTGGCTGCAGGCTC	0.647																																					p.A184D		.											.	XIRP1-158	0			c.C551A						.						49	48	48					3																	39230386		2203	4300	6503	SO:0001583	missense	165904	exon2			CCGCTGGCTGCAG	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.551C>A	3.37:g.39230386G>T	ENSP00000343140:p.Ala184Asp	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	73	4	NM_001198621	0	0	0	0	0	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226542	0.09916	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04970	3.52;3.91	4.61	3.72	0.42706	.	0.642918	0.13814	U	0.360934	T	0.07098	0.0180	L	0.46157	1.445	0.80722	D	1	P;P	0.45902	0.868;0.804	B;B	0.41571	0.273;0.36	T	0.32955	-0.9887	10	0.45353	T	0.12	.	6.4548	0.21924	0.0958:0.0:0.7263:0.1779	.	184;184	Q702N8;Q702N8-2	XIRP1_HUMAN;.	D	184	ENSP00000379550:A184D;ENSP00000343140:A184D	ENSP00000343140:A184D	A	-	2	0	XIRP1	39205390	1.000000	0.71417	0.299000	0.25016	0.117000	0.20001	3.776000	0.55356	1.036000	0.39998	0.655000	0.94253	GCC	.		0.647	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39230386	G	T	39230386	3	4	53	1	0	0	0	0	1	0	0	0	17478	1203	42	3	4984	3	XIRP1	3	39230386	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		39230386	158792044	18	11364											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	53	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	27320376	66550762	131471668	19	11365											
OR5H14	403273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	97869140	97869140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagcttcattcacaaaaaTgttcaaaagaaatgatgttt	5	5	3	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:97869140T>C	ENST00000437310.1	+	1	971	c.911T>C	c.(910-912)aTg>aCg	p.M304T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	304						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						TTCACAAAAATGTTCAAAAGA	0.308																																					p.M304T		.											.	OR5H14-91	0			c.T911C						.						31	31	31					3																	97869140		2193	4295	6488	SO:0001583	missense	403273	exon1			CAAAAATGTTCAA		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.911T>C	3.37:g.97869140T>C	ENSP00000401706:p.Met304Thr	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	214	19	NM_001005514	0	0	0	0	0	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	3.394	-0.123756	0.06795	.	.	ENSG00000236032	ENST00000437310	T	0.37235	1.21	2.49	1.29	0.21616	.	1.921520	0.02567	N	0.097382	T	0.24236	0.0587	L	0.31207	0.915	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13575	-1.0504	10	0.06891	T	0.86	.	5.353	0.16045	0.0:0.1585:0.0:0.8415	.	304	A6NHG9	O5H14_HUMAN	T	304	ENSP00000401706:M304T	ENSP00000401706:M304T	M	+	2	0	OR5H14	99351830	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.822000	0.27352	0.212000	0.20703	0.164000	0.16699	ATG	.		0.308	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			C	97869140	T	C	97869140	3	2	53	1	0	0	0	0	1	0	0	0	11199	1464	51	4	913	4	OR5H14	3	97869140	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	31318378	97869140	100153290	20	11366											
SEMA5B	54437	hgsc.bcm.edu	37	chr3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgctgcgcaggaggAcctccaccagggctgcggag	15	15	0	0	rs2276782	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D	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	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4	5	5		2519	5	1	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	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.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122631896	A	T	122631896	3	4	53	1	0	0	0	0	1	0	0	0	14083	275	10	5	960	5	SEMA5B	3	122631896	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	24762756	122631896	75390534	21	11367											
TRIM42	287015	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	140401765	140401765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctcaaggccttccactCggatgtggccatgcaagacc	10	15	1	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:140401765C>T	ENST00000286349.3	+	2	994	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	268						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S268L(1)		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						GCCTTCCACTCGGATGTGGCC	0.597																																					p.S268L		.											.	TRIM42-227	1	Substitution - Missense(1)	large_intestine(1)	c.C803T						.						117	104	108					3																	140401765		2203	4300	6503	SO:0001583	missense	287015	exon2			TCCACTCGGATGT	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.803C>T	3.37:g.140401765C>T	ENSP00000286349:p.Ser268Leu	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	244	16	NM_152616	0	0	0	0	0	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986617	0.53934	.	.	ENSG00000155890	ENST00000286349	T	0.38887	1.11	5.41	4.52	0.55395	.	0.588445	0.15101	N	0.280534	T	0.27278	0.0669	L	0.39898	1.24	0.32689	N	0.514476	P	0.45011	0.848	B	0.26969	0.075	T	0.48969	-0.8987	10	0.62326	D	0.03	-20.1333	10.4343	0.44426	0.0:0.9074:0.0:0.0926	.	268	Q8IWZ5	TRI42_HUMAN	L	268	ENSP00000286349:S268L	ENSP00000286349:S268L	S	+	2	0	TRIM42	141884455	0.231000	0.23751	1.000000	0.80357	0.986000	0.74619	0.546000	0.23284	2.546000	0.85860	0.561000	0.74099	TCG	.		0.597	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140401765	C	T	140401765	3	4	53	1	0	0	0	0	1	0	0	0	16565	893	31	1	809	1	TRIM42	3	140401765	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	17769869	140401765	57620665	22	11368											
SHOX2	6474	hgsc.bcm.edu	37	chr3	157823581	157823582	+	In_Frame_Ins	INS	-	-	CACCTCCTC													gcctgctcctcctcctcctaINScacctcctccgcctcctccg							TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:157823581_157823582insCACCTCCTC	ENST00000425436.3	-	1	257_258	c.232_233insGAGGAGGTG	c.(232-234)gta>gGAGGAGGTGta	p.77_78insGGG	SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000483851.2_In_Frame_Ins_p.77_78insGGG|RSRC1_ENST00000480820.1_5'Flank|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_In_Frame_Ins_p.77_78insGGG|SHOX2_ENST00000441443.2_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	77	Poly-Gly.				cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			tcctcctcctacacctcctccg	0.787																																					p.V78delinsGGGV		.											.	SHOX2-90	0			c.233_234insGAGGAGGTG						.		,,	21,2419		6,9,1205					,,	-1	0.6			7	162,5396		41,80,2658	no	coding,coding,coding	SHOX2	NM_006884.3,NM_003030.4,NM_001163678.1	,,	47,89,3863	A1A1,A1R,RR		2.9147,0.8607,2.2881	,,	,,		183,7815				SO:0001652	inframe_insertion	6474	exon1			CCTCCTACACCTC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.224_232dupGAGGAGGTG	3.37:g.157823582_157823590dupCACCTCCTC	ENSP00000398704:p.Gly80_Gly81dup	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	56	14	NM_001163678	0	0	0	0	0	O60465|O60467|O60903	In_Frame_Ins	INS	ENST00000425436.3	37	CCDS43164.1																																																																																			.		0.787	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			CACCTCCTC	157823582	-	CACCTCCTC	157823581	7	5	53	1	0	1	1	0	0	0	0	0	14334	391	14	0	858	0	SHOX2	3	157823581	In_Frame_Ins	INS	-	TCGA-OR-A5LK-01A-11D-A29I-10	17421816	157823581	40198849	23	11369											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	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.H1047R	Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	.	PIK3CA-27752	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.A3140G						.						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>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	179	38	NM_006218	0	0	6	6	0	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	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	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	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			G	178952085	A	G	178952085	3	3	53	1	0	0	0	0	1	0	0	0	11952	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	21128504	178952085	19070345	24	11370											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000453894.1_Missense_Mutation_p.T396P|IDUA_ENST00000514224.1_Missense_Mutation_p.T242P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	29	1		WXS	Illumina GAIIx	Phase_I	236	96	NM_000203	0	0	4	4	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	53	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10		996204	190158072	25	11371											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_175918	0	0	3	6	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	53	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	392770	1388974	189765302	26	11372											
RBM47	54502	hgsc.bcm.edu	37	chr4	40440854	40440854	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgccctcgggcaccttggcGgaggacccggcggccgagtc	16	16	0	0	rs1052153	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:40440854G>C	ENST00000381793.2	-	3	453	c.57C>G	c.(55-57)tcC>tcG	p.S19S	RBM47_ENST00000295971.7_Silent_p.S19S|RBM47_ENST00000319592.4_Silent_p.S19S|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.S19S|RBM47_ENST00000514014.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	19					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						GCACCTTGGCGGAGGACCCGG	0.662													C|||	4016	0.801917	0.6808	0.8588	5008	,	,		14653	0.7679		0.8837	False		,,,				2504	0.8763				p.S19S		.											.	RBM47-25	0			c.C57G						.	C	,	3111,1133		1151,809,162	8	9	9		57,57	-7.6	0	4	dbSNP_86	9	7487,919		3358,771,74	no	coding-synonymous,coding-synonymous	RBM47	NM_001098634.1,NM_019027.3	,	4509,1580,236	CC,CG,GG		10.9327,26.6965,16.2213	,	19/594,19/525	40440854	10598,2052	2122	4203	6325	SO:0001819	synonymous_variant	54502	exon4			CTTGGCGGAGGAC	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.57C>G	4.37:g.40440854G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001098634	0	0	0	1	1	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																			G|0.794;C|0.206		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440854	G	C	40440854	2	2	53	1	0	0	0	0	0	0	0	1	13186	1103	39	2		2	RBM47	4	40440854	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	39051880	40440854	150713422	27	11373											
PHOX2B	8929	broad.mit.edu	37	chr4	41749416	41749416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagctcctcccgagTgtagatgtcggggtagtgag	16	10	0	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:41749416T>G	ENST00000226382.2	-	2	738	c.379A>C	c.(379-381)Act>Cct	p.T127P	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	127					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCCTCCCGAGTGTAGATGTCG	0.652			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.T127P		.	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	PHOX2B-1970	0			c.A379C						.						51	55	54					4																	41749416		2203	4300	6503	SO:0001583	missense	8929	exon2	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CCCGAGTGTAGAT	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.379A>C	4.37:g.41749416T>G	ENSP00000226382:p.Thr127Pro	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	57	3	NM_003924	0	0	0	0	0	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660852	0.67700	.	.	ENSG00000109132	ENST00000226382	D	0.95788	-3.81	5.54	5.54	0.83059	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98953	1.0795	10	0.87932	D	0	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	127	Q99453	PHX2B_HUMAN	P	127	ENSP00000226382:T127P	ENSP00000226382:T127P	T	-	1	0	PHOX2B	41444173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.326000	0.78906	0.533000	0.62120	ACT	.		0.652	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			G	41749416	T	G	41749416	3	3	53	1	0	0	0	0	1	0	0	0	11898	1696	59	5	573	5	PHOX2B	4	41749416	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	1308562	41749416	149404860	28	11374											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	53	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	6743018	48492434	142661842	29	11375											
NPFFR2	10886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	73012700	73012700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaattgcaggttccAgtgtgtggtctaccctttta	10	7	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:73012700A>G	ENST00000308744.6	+	4	838	c.740A>G	c.(739-741)cAg>cGg	p.Q247R	NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q148R|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q145R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	247					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGCAGGTTCCAGTGTGTGGTC	0.403																																					p.Q247R		.											.	NPFFR2-92	0			c.A740G						.						172	174	173					4																	73012700		2203	4300	6503	SO:0001583	missense	10886	exon4			GGTTCCAGTGTGT	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.740A>G	4.37:g.73012700A>G	ENSP00000307822:p.Gln247Arg	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	79	14	NM_004885	0	0	0	0	0	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	0.585	-0.835509	0.02713	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.36520	1.25;1.25;1.25	5.81	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.259551	0.27876	N	0.017484	T	0.11537	0.0281	N	0.00855	-1.145	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26189	-1.0110	10	0.06494	T	0.89	.	12.7025	0.57041	0.1346:0.0:0.8654:0.0	.	148;247	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	R	247;148;145	ENSP00000307822:Q247R;ENSP00000379321:Q148R;ENSP00000351599:Q145R	ENSP00000307822:Q247R	Q	+	2	0	NPFFR2	73231564	0.994000	0.37717	0.983000	0.44433	0.137000	0.21094	3.431000	0.52814	0.824000	0.34613	-0.128000	0.14901	CAG	.		0.403	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		G	73012700	A	G	73012700	3	3	53	1	0	0	0	0	1	0	0	0	10617	188	7	4	760	4	NPFFR2	4	73012700	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	24520266	73012700	118141576	30	11376											
COQ2	27235	hgsc.bcm.edu	37	chr4	84205872	84205872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacgccagtgccaCagcccgcaggccccgcgcga	13	20	0	0	rs6818847	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:84205872C>A	ENST00000311469.4	-	1	195	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	COQ2_ENST00000439031.2_Missense_Mutation_p.V29L|COQ2_ENST00000311461.7_Missense_Mutation_p.V16L	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	16					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GCCAGTGCCACAGCCCGCAGG	0.766													C|||	3254	0.64976	0.3775	0.647	5008	,	,		9689	0.8879		0.7227	False		,,,				2504	0.6994				p.V66L		.											.	COQ2-92	0			c.G196T						.	C	LEU/VAL	1570,1290		474,622,334	2	3	3		196	-2.7	0	4	dbSNP_116	3	4779,1627		1892,995,316	no	missense	COQ2	NM_015697.7	32	2366,1617,650	AA,AC,CC		25.3981,45.1049,31.4807	benign	66/422	84205872	6349,2917	1430	3203	4633	SO:0001583	missense	27235	exon1			GTGCCACAGCCCG		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.196G>T	4.37:g.84205872C>A	ENSP00000310873:p.Val66Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015697	0	0	0	0	0	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	1475	0.6753663003663004	219	0.4451219512195122	244	0.6740331491712708	490	0.8566433566433567	522	0.6886543535620053	C	5.506	0.278257	0.10403	0.548951	0.746019	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	T;T;T	0.77098	-1.07;-1.03;-1.0	3.59	-2.74	0.05932	.	2.205390	0.02429	N	0.083323	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	8	0.07813	T	0.8	-2.056	4.7989	0.13287	0.0:0.2608:0.3311:0.4081	rs6818847;rs17850399;rs17858544	16	E2QRG7	.	L	66;29;16	ENSP00000310873:V66L;ENSP00000409275:V29L;ENSP00000311835:V16L	ENSP00000311835:V16L	V	-	1	0	COQ2	84424896	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.921000	0.01569	-0.746000	0.04766	0.467000	0.42956	GTG	C|0.324;A|0.676		0.766	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		A	84205872	C	A	84205872	3	1	53	1	0	0	0	0	1	0	0	0	3752	478	17	3	1097	3	COQ2	4	84205872	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	11193172	84205872	106948404	31	11377											
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	94376818	94376818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaatttctcagagagcCgacatagggatttctgcttt	8	9	3	1	rs560303075		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:94376818C>T	ENST00000282020.4	+	11	1809	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A	GRID2_ENST00000510992.1_Silent_p.A422A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	517					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTCAGAGAGCCGACATAGGGA	0.408													C|||	1	0.000199681	8e-04	0	5008	,	,		18711	0		0	False		,,,				2504	0				p.A517A		.											.	GRID2-159	0			c.C1551T						.						58	60	59					4																	94376818		2203	4300	6503	SO:0001819	synonymous_variant	2895	exon11			GAGAGCCGACATA	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1551C>T	4.37:g.94376818C>T		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	149	21	NM_001510	0	0	0	0	0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																			.		0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94376818	C	T	94376818	2	4	53	1	0	0	0	0	0	0	0	1	6799	639	23	1		1	GRID2	4	94376818	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	10170946	94376818	96777458	32	11378											
RAPGEF2	9693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	160275135	160275135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtgactacggaagaaAccaagcctgtccccatgcct	9	14	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr4:160275135A>G	ENST00000264431.4	+	22	4524	c.4105A>G	c.(4105-4107)Acc>Gcc	p.T1369A		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1369					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)		TACGGAAGAAACCAAGCCTGT	0.488																																					p.T1369A		.											.	RAPGEF2-637	0			c.A4105G						.						43	44	44					4																	160275135		1946	4153	6099	SO:0001583	missense	9693	exon22			GAAGAAACCAAGC	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.4105A>G	4.37:g.160275135A>G	ENSP00000264431:p.Thr1369Ala	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	131	46	NM_014247	1	0	1	3	1	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.967|3.967	-0.009184|-0.009184	0.07727|0.07727	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.36878	.|1.23	6.17|6.17	-2.93|-2.93	0.05598|0.05598	.|.	.|0.438573	.|0.28031	.|N	.|0.016866	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.22421|0.22421	0.69|0.69	0.20764|0.20764	N|N	0.999859|0.999859	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.14727|0.14727	-1.0462|-1.0462	5|10	.|0.16896	.|T	.|0.51	.|.	2.6806|2.6806	0.05093|0.05093	0.3973:0.1978:0.3088:0.0961|0.3973:0.1978:0.3088:0.0961	.|.	.|1369	.|Q9Y4G8	.|RPGF2_HUMAN	S|A	303|1369	.|ENSP00000264431:T1369A	.|ENSP00000264431:T1369A	N|T	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160494585|160494585	0.036000|0.036000	0.19791|0.19791	0.118000|0.118000	0.21660|0.21660	0.059000|0.059000	0.15707|0.15707	-0.231000|-0.231000	0.09069|0.09069	-0.684000|-0.684000	0.05183|0.05183	0.533000|0.533000	0.62120|0.62120	AAC|ACC	.		0.488	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		G	160275135	A	G	160275135	3	3	53	1	0	0	0	0	1	0	0	0	13089	43	2	4	4191	4	RAPGEF2	4	160275135	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	65898317	160275135	30879141	33	11379											
DNAH5	1767	broad.mit.edu;bcgsc.ca	37	chr5	13845019	13845019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtatagtgtgggagtccGacgcctgccccagaatctct	11	13	1	1	rs146087064		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr5:13845019G>A	ENST00000265104.4	-	32	5302	c.5198C>T	c.(5197-5199)tCg>tTg	p.S1733L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1733	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)					GTGGGAGTCCGACGCCTGCCC	0.463									Kartagener syndrome				G|||	0	0	0	0	5008	,	,		18049	0		0	False		,,,				2504	0				p.S1733L		.											.	DNAH5-182	0			c.C5198T						.	G	LEU/SER	1,4405	4.2+/-10.8	0,1,2202	110	110	110		5198	5.1	0.4	5	dbSNP_134	110	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1733/4625	13845019	1,13005	2203	4300	6503	SO:0001583	missense	1767	exon32	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAGTCCGACGCCT	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.5198C>T	5.37:g.13845019G>A	ENSP00000265104:p.Ser1733Leu	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	219	10	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215149	0.79352	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.61859	0.07	5.09	5.09	0.68999	Dynein heavy chain, domain-2 (1);	0.138751	0.50627	D	0.000104	D	0.85186	0.5639	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90855	0.4734	10	0.87932	D	0	.	18.588	0.91197	0.0:0.0:1.0:0.0	.	1733	Q8TE73	DYH5_HUMAN	L	1733	ENSP00000265104:S1733L	ENSP00000265104:S1733L	S	-	2	0	DNAH5	13898019	1.000000	0.71417	0.414000	0.26521	0.341000	0.28922	7.827000	0.86722	2.384000	0.81235	0.650000	0.86243	TCG	G|1.000;A|0.000		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13845019	G	A	13845019	3	1	53	1	0	0	0	0	1	0	0	0	4618	1059	37	1	8868	1	DNAH5	5	13845019	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		13845019	167070241	34	11380											
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	127863580	127863580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttacgttgtccacaataagTtccaatatatcctttctggc	5	11	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr5:127863580T>A	ENST00000508053.1	-	10	1491	c.517A>T	c.(517-519)Act>Tct	p.T173S	FBN2_ENST00000508989.1_Missense_Mutation_p.T140S|FBN2_ENST00000262464.4_Missense_Mutation_p.T173S			P35556	FBN2_HUMAN	fibrillin 2	173	EGF-like 2. {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)		CCACAATAAGTTCCAATATAT	0.378																																					p.T173S		.											.	FBN2-146	0			c.A517T						.						89	81	84					5																	127863580		2203	4300	6503	SO:0001583	missense	2201	exon4			AATAAGTTCCAAT	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.517A>T	5.37:g.127863580T>A	ENSP00000424571:p.Thr173Ser	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	172	20	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	2.518	-0.311415	0.05422	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.85171	-1.78;-1.78;-1.95;0.15	4.06	1.64	0.23874	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.612294	0.16116	N	0.228854	T	0.68696	0.3029	N	0.11698	0.16	0.20975	N	0.999816	B;B;B;B	0.11235	0.0;0.004;0.001;0.001	B;B;B;B	0.12156	0.001;0.007;0.002;0.001	T	0.51028	-0.8757	10	0.16420	T	0.52	.	9.0398	0.36311	0.0:0.248:0.0:0.752	.	140;173;140;173	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	S	173;173;140;173	ENSP00000262464:T173S;ENSP00000424571:T173S;ENSP00000425596:T140S;ENSP00000424753:T173S	ENSP00000262464:T173S	T	-	1	0	FBN2	127891479	0.990000	0.36364	0.995000	0.50966	0.092000	0.18411	2.535000	0.45685	0.051000	0.15978	-2.200000	0.00306	ACT	.		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127863580	T	A	127863580	3	1	53	1	0	0	0	0	1	0	0	0	5725	1725	60	5	8469	5	FBN2	5	127863580	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	114018561	127863580	53051680	35	11381											
GDF9	2661	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	132197395	132197395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttggcaggtacacatgaCggtcttggcactgaggagtc	13	8	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr5:132197395C>T	ENST00000378673.2	-	3	2117	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	GDF9_ENST00000296875.2_Silent_p.P417P|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	417					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.P417P(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTACACATGACGGTCTTGGCA	0.483																																					p.P417P		.											.	GDF9-227	1	Substitution - coding silent(1)	cervix(1)	c.G1251A						.						139	113	122					5																	132197395		2203	4300	6503	SO:0001819	synonymous_variant	2661	exon2			ACATGACGGTCTT		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1251G>A	5.37:g.132197395C>T		Somatic	133	0		WXS	Illumina GAIIx	Phase_I	209	13	NM_005260	0	0	0	0	0	Q4VAW5	Silent	SNP	ENST00000378673.2	37	CCDS4162.1																																																																																			.		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		T	132197395	C	T	132197395	2	4	53	1	0	0	0	0	0	0	0	1	6345	523	19	1		1	GDF9	5	132197395	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	4333815	132197395	48717865	36	11382											
SEC24A	10802	broad.mit.edu	37	chr5	134022586	134022586	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtttgttagacaatcTggatttgtaagtttctcaat	8	6	2	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr5:134022586T>A	ENST00000398844.2	+	10	1886	c.1598T>A	c.(1597-1599)cTg>cAg	p.L533Q	SEC24A_ENST00000322887.4_Missense_Mutation_p.L533Q	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	533					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAGACAATCTGGATTTGTAA	0.303																																					p.L533Q		.											.	SEC24A-68	0			c.T1598A						.						106	93	97					5																	134022586		1824	4080	5904	SO:0001583	missense	10802	exon10			ACAATCTGGATTT	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1598T>A	5.37:g.134022586T>A	ENSP00000381823:p.Leu533Gln	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_001252231	0	0	0	0	0	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.648795|4.648795	0.87958|0.87958	.|.	.|.	ENSG00000113615|ENSG00000113615	ENST00000398844;ENST00000322887|ENST00000513123	D;D|.	0.85773|.	-2.03;-2.03|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Sec23/Sec24, trunk domain (1);|.	0.202288|.	0.43260|.	D|.	0.000592|.	D|D	0.88112|0.88112	0.6349|0.6349	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.92051|0.92051	0.5648|0.5648	10|5	0.87932|.	D|.	0|.	-10.0175|-10.0175	16.1502|16.1502	0.81611|0.81611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	297;533|.	B4E205;O95486|.	.;SC24A_HUMAN|.	Q|R	533|79	ENSP00000381823:L533Q;ENSP00000321749:L533Q|.	ENSP00000321749:L533Q|.	L|W	+|+	2|1	0|0	SEC24A|SEC24A	134050485|134050485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.671000|7.671000	0.83941|0.83941	2.203000|2.203000	0.70933|0.70933	0.460000|0.460000	0.39030|0.39030	CTG|TGG	.		0.303	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			A	134022586	T	A	134022586	3	1	53	1	0	0	0	0	1	0	0	0	14039	1580	55	5	1636	5	SEC24A	5	134022586	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	1825191	134022586	46892674	37	11383											
ABLIM3	22885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	148624490	148624490	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaagtgaagacatcagCcagacctccaagtacagtcc	7	12	1	3			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr5:148624490C>G	ENST00000506113.1	+	15	1880	c.1398C>G	c.(1396-1398)agC>agG	p.S466R	ABLIM3_ENST00000508983.1_Missense_Mutation_p.S433R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.S355R|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S371R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S355R|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S466R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	466					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACATCAGCCAGACCTCCA	0.542																																					p.S466R		.											.	ABLIM3-93	0			c.C1398G						.						170	150	157					5																	148624490		2203	4300	6503	SO:0001583	missense	22885	exon16			CATCAGCCAGACC	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1398C>G	5.37:g.148624490C>G	ENSP00000425394:p.Ser466Arg	Somatic	178	0		WXS	Illumina GAIIx	Phase_I	222	81	NM_014945	0	0	1	5	4	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394888	0.25205	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.2	2.26	0.28386	.	0.437967	0.27354	N	0.019741	T	0.09992	0.0245	N	0.03608	-0.345	0.36981	D	0.89427	B;B;B	0.27416	0.001;0.178;0.0	B;B;B	0.25759	0.007;0.063;0.001	T	0.13202	-1.0518	10	0.17832	T	0.49	.	2.9817	0.05955	0.2134:0.5232:0.1099:0.1535	.	371;355;466	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	R	371;355;466;466;355;433	ENSP00000315841:S371R;ENSP00000348938:S355R;ENSP00000310309:S466R;ENSP00000425394:S466R;ENSP00000421183:S355R;ENSP00000420855:S433R	ENSP00000310309:S466R	S	+	3	2	ABLIM3	148604683	0.856000	0.29760	1.000000	0.80357	0.997000	0.91878	-0.075000	0.11431	0.584000	0.29591	0.563000	0.77884	AGC	.		0.542	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		G	148624490	C	G	148624490	3	3	53	1	0	0	0	0	1	0	0	0	96	738	26	3	1456	3	ABLIM3	5	148624490	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	14601904	148624490	32290770	38	11384											
HLA-B	3106	hgsc.bcm.edu	37	chr6	31323953	31323960	+	Frame_Shift_Del	DEL	CCAGCTTG	CCAGCTTG	-													gcccctggtaccagcgcgctCcagcttgtccttcccgttct					rs113893121|rs151341334|rs151341333|rs1131279|rs137854786|rs1131275|rs1131285	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	CCAGCTTG	CCAGCTTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:31323953_31323960delCCAGCTTG	ENST00000412585.2	-	3	631_638	c.603_610delCAAGCTGG	c.(601-612)gacaagctggagfs	p.DKL201fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	201	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						CCAGCGCGCTCCAGCTTGTCCTTCCCGT	0.654									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.201_204del		.											.	HLA-B-90	0			c.603_610del						.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	CGCGCTCCAGCTT	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.603_610delCAAGCTGG	6.37:g.31323953_31323960delCCAGCTTG	ENSP00000399168:p.Asp201fs	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	85	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.654	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31323960	CCAGCTTG	-	31323953	7	5	53	1	0	1	0	1	0	0	0	0	7223	864	30	0	498	0	HLA-B	6	31323953	Frame_Shift_Del	DEL	CCAGCTTG	TCGA-OR-A5LK-01A-11D-A29I-10		31323953	139791114	39	11385											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	65622395	65622395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctctacaaatacaatGctgatttgcgtctaccaaag	5	11	2	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:65622395G>A	ENST00000370621.3	-	16	3149	c.2623C>T	c.(2623-2625)Cat>Tat	p.H875Y	EYS_ENST00000370616.2_Missense_Mutation_p.H875Y|EYS_ENST00000503581.1_Missense_Mutation_p.H875Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	875	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAATACAATGCTGATTTGCG	0.353																																					p.H875Y		.											.	EYS-660	0			c.C2623T						.						143	113	122					6																	65622395		692	1591	2283	SO:0001583	missense	346007	exon16			TACAATGCTGATT		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.2623C>T	6.37:g.65622395G>A	ENSP00000359655:p.His875Tyr	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	171	19	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	1.297	-0.606100	0.03717	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.91521	-2.86;-2.86;-2.86	4.88	-3.51	0.04696	.	1.499370	0.04680	N	0.412163	T	0.48696	0.1514	N	0.04994	-0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57423	-0.7814	10	0.02654	T	1	.	2.0511	0.03571	0.3814:0.1065:0.3526:0.1595	.	875	Q5T1H1-1	.	Y	875	ENSP00000424243:H875Y;ENSP00000359655:H875Y;ENSP00000359650:H875Y	ENSP00000359650:H875Y	H	-	1	0	EYS	65679116	0.001000	0.12720	0.000000	0.03702	0.624000	0.37722	-0.452000	0.06787	-0.264000	0.09365	-0.367000	0.07326	CAT	.		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	65622395	G	A	65622395	3	1	53	1	0	0	0	0	1	0	0	0	5348	1319	46	3	6768	3	EYS	6	65622395	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	34298442	65622395	105492672	40	11386											
ROS1	6098	broad.mit.edu	37	chr6	117622297	117622297	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcactgggtcattaaattCcacctaaatatatggggaaa	8	8	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:117622297C>T	ENST00000368508.3	-	42	6771	c.6573G>A	c.(6571-6573)tgG>tgA	p.W2191*	RN7SKP51_ENST00000410781.1_RNA|RN7SKP18_ENST00000516005.1_RNA|ROS1_ENST00000368507.3_Nonsense_Mutation_p.W2185*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TCATTAAATTCCACCTAAATA	0.353			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.W2191X		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1-1353	0			c.G6573A						.						81	86	84					6																	117622297		2203	4300	6503	SO:0001587	stop_gained	6098	exon42			TAAATTCCACCTA	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.6573G>A	6.37:g.117622297C>T	ENSP00000357494:p.Trp2191*	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	69	3	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	47	13.275274	0.99731	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.01	5.01	0.66863	.	0.114465	0.41823	D	0.000806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.8761	0.52548	0.1863:0.8137:0.0:0.0	.	.	.	.	X	2191;2185	.	ENSP00000357493:W2185X	W	-	3	0	ROS1	117728990	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	2.851000	0.48302	2.710000	0.92621	0.650000	0.86243	TGG	.		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117622297	C	T	117622297	4	4	53	1	0	0	0	0	0	1	0	0	13576	856	30	3	478	3	ROS1	6	117622297	Nonsense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	51999902	117622297	53492770	41	11387											
MAP3K5	4217	broad.mit.edu;bcgsc.ca	37	chr6	136913613	136913613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcccttgacatctctttcTccgcaggacttggctcttgt	7	13	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:136913613T>C	ENST00000359015.4	-	22	3378	c.3018A>G	c.(3016-3018)ggA>ggG	p.G1006G	MAP3K5_ENST00000355845.4_Silent_p.G253G	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1006			G -> R (in dbSNP:rs45626535). {ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CATCTCTTTCTCCGCAGGACT	0.478																																					p.G1006G		.											.	MAP3K5-982	0			c.A3018G						.						137	137	137					6																	136913613		2203	4300	6503	SO:0001819	synonymous_variant	4217	exon22			TCTTTCTCCGCAG	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3018A>G	6.37:g.136913613T>C		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	175	7	NM_005923	0	0	2	2	0	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	CCDS5179.1																																																																																			.		0.478	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	136913613	T	C	136913613	2	2	53	1	0	0	0	0	0	0	0	1	9291	1538	54	4		4	MAP3K5	6	136913613	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	19291316	136913613	34201454	42	11388											
PPIL4	85313	hgsc.bcm.edu	37	chr6	149862718	149862718	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagtttcaagaaattcaaGcaggctgaaagaaagtaaat	8	6	2	3			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:149862718G>T	ENST00000253329.2	-	2	107	c.75C>A	c.(73-75)tgC>tgA	p.C25*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	25	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AGAAATTCAAGCAGGCTGAAA	0.274																																					p.C25X		.											.	PPIL4-90	0			c.C75A						.						59	61	60					6																	149862718		2203	4300	6503	SO:0001587	stop_gained	85313	exon2			ATTCAAGCAGGCT		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.75C>A	6.37:g.149862718G>T	ENSP00000253329:p.Cys25*	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_139126	0	0	0	0	0	B2RD34|Q7Z3Q5	Nonsense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381438	0.82792	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.57	1.76	0.24704	.	0.048633	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3696	0.38246	0.466:0.0:0.534:0.0	.	.	.	.	X	25	.	ENSP00000253329:C25X	C	-	3	2	PPIL4	149904411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.587000	0.36622	0.381000	0.24851	-0.136000	0.14681	TGC	.		0.274	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			T	149862718	G	T	149862718	4	4	53	1	0	0	0	0	0	1	0	0	12371	963	34	3	1451	3	PPIL4	6	149862718	Nonsense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	12949105	149862718	21252349	43	11389											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	152832157	152832157	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcacaatacctggaaatataGaataatggtccacatcaatc	6	9	1	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:152832157G>T	ENST00000367255.5	-	7	992	c.391C>A	c.(391-393)Cta>Ata	p.L131I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L138I|SYNE1_ENST00000413186.2_Missense_Mutation_p.L131I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L131I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L138I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L131I|SYNE1_ENST00000367253.4_Missense_Mutation_p.L131I|SYNE1_ENST00000466159.2_Missense_Mutation_p.L131I|SYNE1_ENST00000367248.3_Missense_Mutation_p.L138I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	131	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TGGAAATATAGAATAATGGTC	0.378										HNSCC(10;0.0054)																											p.L138I		.											.	SYNE1-607	0			c.C412A						.						170	173	172					6																	152832157		2203	4300	6503	SO:0001583	missense	23345	exon7			AATATAGAATAAT	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.391C>A	6.37:g.152832157G>T	ENSP00000356224:p.Leu131Ile	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	190	23	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933123	0.73442	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.65	1.88	0.25563	Calponin homology domain (5);	0.000000	0.45126	D	0.000390	D	0.97139	0.9065	H	0.94771	3.58	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	0.91635	0.999;0.999;0.998;0.999;0.998	D	0.96984	0.9717	10	0.87932	D	0	.	10.3651	0.44019	0.3324:0.0:0.6676:0.0	.	131;131;131;131;138	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	I	131;138;131;138;131;131;138;131;131;131	ENSP00000356224:L131I;ENSP00000396024:L138I;ENSP00000265368:L131I;ENSP00000390975:L138I;ENSP00000341887:L131I;ENSP00000356222:L131I;ENSP00000356217:L138I;ENSP00000414510:L131I;ENSP00000446021:L131I;ENSP00000441264:L131I	ENSP00000265368:L131I	L	-	1	2	SYNE1	152873850	1.000000	0.71417	0.455000	0.27031	0.972000	0.66771	3.236000	0.51336	0.748000	0.32831	0.637000	0.83480	CTA	.		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152832157	G	T	152832157	3	4	53	1	0	0	0	0	1	0	0	0	15492	933	33	3	26635	3	SYNE1	6	152832157	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	2969439	152832157	18282910	44	11390											
MTRF1L	54516	broad.mit.edu;bcgsc.ca	37	chr6	153315693	153315693	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acagtcatggtgctagtatgGacgcggccttgcttttctgt	12	9	2	0	rs369828849		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:153315693G>C	ENST00000367233.5	-	4	641	c.642C>G	c.(640-642)gtC>gtG	p.V214V	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_Silent_p.V214V|MTRF1L_ENST00000367230.1_Silent_p.V178V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	214			V -> I (in dbSNP:rs3192723).			mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TGCTAGTATGGACGCGGCCTT	0.517																																					p.V214V		.											.	MTRF1L-90	0			c.C642G						.						184	160	168					6																	153315693		2203	4300	6503	SO:0001819	synonymous_variant	54516	exon4			AGTATGGACGCGG	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.642C>G	6.37:g.153315693G>C		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	151	6	NM_019041	0	0	1	1	0	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																			.		0.517	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		C	153315693	G	C	153315693	2	2	53	1	0	0	0	0	0	0	0	1	9998	1161	41	3		3	MTRF1L	6	153315693	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	483536	153315693	17799374	45	11391											
IGF2R	3482	broad.mit.edu;bcgsc.ca	37	chr6	160450598	160450598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcttgtcctgagttacGtgagggaagaggcaggaaag	16	7	0	3	rs199715599		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:160450598G>A	ENST00000356956.1	+	7	941	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	265					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)	CCTGAGTTACGTGAGGGAAGA	0.463																																					p.V265M		.											.	IGF2R-118	0			c.G793A						.						113	99	104					6																	160450598		2203	4300	6503	SO:0001583	missense	3482	exon7			AGTTACGTGAGGG	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.793G>A	6.37:g.160450598G>A	ENSP00000349437:p.Val265Met	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	136	6	NM_000876	0	0	1	1	0	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232855	0.39498	.	.	ENSG00000197081	ENST00000356956	T	0.14516	2.5	4.91	3.97	0.46021	Mannose-6-phosphate receptor, binding (1);	0.343543	0.29699	N	0.011438	T	0.11665	0.0284	M	0.66939	2.045	0.37494	D	0.916507	P	0.47762	0.9	P	0.45881	0.496	T	0.03969	-1.0988	10	0.32370	T	0.25	-34.7656	13.3849	0.60791	0.0:0.0:0.8423:0.1577	.	265	P11717	MPRI_HUMAN	M	265	ENSP00000349437:V265M	ENSP00000349437:V265M	V	+	1	0	IGF2R	160370588	0.988000	0.35896	0.856000	0.33681	0.974000	0.67602	2.286000	0.43496	2.433000	0.82419	0.655000	0.94253	GTG	.		0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160450598	G	A	160450598	3	1	53	1	0	0	0	0	1	0	0	0	7603	1145	40	1	819	1	IGF2R	6	160450598	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	7134905	160450598	10664469	46	11392											
PRR18	285800	hgsc.bcm.edu	37	chr6	166720806	166720806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgcgcggcagccgcGgactccacgccgcgcagcca	14	21	0	0	rs911203	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr6:166720806G>C	ENST00000322583.3	-	1	1065	c.825C>G	c.(823-825)tcC>tcG	p.S275S		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	275										haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		cggcagccgcggACTCCACGC	0.741													C|||	3992	0.797125	0.8525	0.6196	5008	,	,		7867	0.9206		0.7465	False		,,,				2504	0.773				p.S275S		.											.	PRR18-514	0			c.C825G						.	C		3541,683		1503,535,74	7	7	7		825	2.4	1	6	dbSNP_86	7	6180,2074		2355,1470,302	no	coding-synonymous	PRR18	NM_175922.3		3858,2005,376	CC,CG,GG		25.1272,16.1695,22.0949		275/296	166720806	9721,2757	2112	4127	6239	SO:0001819	synonymous_variant	285800	exon1			AGCCGCGGACTCC	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"proline rich region 18"			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.825C>G	6.37:g.166720806G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_175922	0	0	0	0	0		Silent	SNP	ENST00000322583.3	37	CCDS5291.1																																																																																			G|0.796;C|0.204		0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		C	166720806	G	C	166720806	2	2	53	1	0	0	0	0	0	0	0	1	12632	1103	39	2		2	PRR18	6	166720806	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	6270208	166720806	4394261	47	11393											
CHN2	1124	bcgsc.ca	37	chr7	29407600	29407600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagaatcatttgtcctcgGgaggtcagtgctcagctatt	11	8	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:29407600G>T	ENST00000222792.6	+	3	671	c.141G>T	c.(139-141)cgG>cgT	p.R47R	CHN2_ENST00000495789.2_Silent_p.R60R|CHN2_ENST00000539406.1_Silent_p.R122R|CHN2_ENST00000435288.2_Silent_p.R47R|CHN2_ENST00000546235.1_Silent_p.R32R|CHN2_ENST00000539389.1_Silent_p.R47R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	47					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TTTGTCCTCGGGAGGTCAGTG	0.408																																					p.R47R	Ovarian(1;44 48 13232 18918 31480)	.											.	CHN2-229	0			c.G141T						.						115	112	113					7																	29407600		2203	4300	6503	SO:0001819	synonymous_variant	1124	exon3			TCCTCGGGAGGTC	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.141G>T	7.37:g.29407600G>T		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_004067	0	0	0	0	0	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	CCDS5420.1																																																																																			.		0.408	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		T	29407600	G	T	29407600	2	4	53	1	0	0	0	0	0	0	0	1	3370	1219	43	3		3	CHN2	7	29407600	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		29407600	129731063	48	11394											
CHN2	1124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	29519803	29519803	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctaagcagggcaggaaacGccaagaactgctggccgtag	14	10	1	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:29519803G>A	ENST00000222792.6	+	7	1106				CHN2_ENST00000439711.2_Missense_Mutation_p.R26H|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Missense_Mutation_p.R26H|CHN2_ENST00000546235.1_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.R26H|CHN2_ENST00000409041.4_Missense_Mutation_p.R26H|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GGCAGGAAACGCCAAGAACTG	0.532																																					p.R26H	Ovarian(1;44 48 13232 18918 31480)	.											.	CHN2-229	0			c.G77A						.						116	128	124					7																	29519803		1327	2309	3636	SO:0001627	intron_variant	1124	exon1			GGAAACGCCAAGA	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.577-92G>A	7.37:g.29519803G>A		Somatic	220	0		WXS	Illumina GAIIx	Phase_I	307	52	NM_001039936	0	0	0	0	0	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655023	0.29425	.	.	ENSG00000106069	ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T	0.75589	-0.44;-0.04;-0.95;0.18	5.64	4.76	0.60689	.	.	.	.	.	T	0.81508	0.4837	L	0.50333	1.59	0.27348	N	0.956324	D;D;B;D;B;D;B;B	0.65815	0.987;0.967;0.013;0.995;0.018;0.992;0.014;0.018	P;P;B;P;B;P;B;B	0.61800	0.579;0.482;0.003;0.469;0.003;0.894;0.002;0.003	T	0.75007	-0.3469	9	0.49607	T	0.09	.	15.9203	0.79562	0.0:0.0:0.8635:0.1365	.	26;26;26;26;26;26;26;26	B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCF6;E9PGE0	.;.;.;.;.;.;.;.	H	26	ENSP00000386849:R26H;ENSP00000406337:R26H;ENSP00000387425:R26H;ENSP00000394284:R26H	ENSP00000386849:R26H	R	+	2	0	CHN2	29486328	1.000000	0.71417	0.991000	0.47740	0.071000	0.16799	3.582000	0.53921	1.509000	0.48786	-0.188000	0.12872	CGC	.		0.532	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		A	29519803	G	A	29519803	1	1	53	0	1	0	0	0	0	0	0	0	3370	1087	38	1		1	CHN2	7	29519803	Intron	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	112203	29519803	129618860	49	11395											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_002047	0	0	0	1	1	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	53	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	1114858	30634661	128504002	50	11396											
C7orf64	84060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	92164285	92164285	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcataaacttaaagagGtaaggttatttttaaaaaac	7	4	0	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:92164285G>T	ENST00000265732.5	+	4	1058		c.e4+1		RBM48_ENST00000481551.1_Missense_Mutation_p.V340L	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48							nucleus (GO:0005634)	RNA binding (GO:0003723)										ACTTAAAGAGGTAAGGTTATT	0.318																																					.		.											.	.	0			c.1017+1G>T						.						30	29	30					7																	92164285		1807	4071	5878	SO:0001630	splice_region_variant	84060	exon4			AAAGAGGTAAGGT	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.1017+1G>T	7.37:g.92164285G>T		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	124	13	NM_032120	0	0	1	1	0	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Splice_Site	SNP	ENST00000265732.5	37	CCDS43615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|G	16.67|16.67	3.187708|3.187708	0.57909|0.57909	.|.	.|.	ENSG00000127993|ENSG00000127993	ENST00000265732;ENST00000450580|ENST00000481551	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79947	.|0.4534	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	.|T	.|0.80077	.|-0.1533	.|6	.|.	.|.	.|.	.|-0.3204	18.7127|18.7127	0.91664|0.91664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|340	.|B7Z2K5	.|.	.|L	-1|340	.|.	.|.	.|V	+|+	.|1	.|0	C7orf64|C7orf64	92002221|92002221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.472000|0.472000	0.32918|0.32918	8.952000|8.952000	0.93031|0.93031	2.656000|2.656000	0.90262|0.90262	0.460000|0.460000	0.39030|0.39030	.|GTA	.		0.318	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	Intron	T	92164285	G	T	92164285	5	4	53	1	0	0	0	0	0	0	1	0	2417	1275	44	3	1032	3	C7orf64	7	92164285	Splice_Site	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	61529624	92164285	66974378	51	11397											
TRRAP	8295	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	98581870	98581870	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctctggatatattaagtcgGattcatactattccaactgt	7	8	2	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:98581870G>C	ENST00000359863.4	+	60	9398	c.9189G>C	c.(9187-9189)cgG>cgC	p.R3063R	TRRAP_ENST00000355540.3_Silent_p.R3034R|TRRAP_ENST00000446306.3_Silent_p.R3034R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3063	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TATTAAGTCGGATTCATACTA	0.463																																					p.R3063R		.											.	TRRAP-923	0			c.G9189C						.						187	172	177					7																	98581870		2203	4300	6503	SO:0001819	synonymous_variant	8295	exon60			AAGTCGGATTCAT	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9189G>C	7.37:g.98581870G>C		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	204	16	NM_001244580	0	0	1	1	0	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823387	0.16678	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.26	-7.42	0.01388	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47898	-0.9081	4	.	.	.	.	6.0445	0.19752	0.1781:0.4968:0.0957:0.2294	.	.	.	.	A	2774	.	.	G	+	2	0	TRRAP	98419806	0.000000	0.05858	0.660000	0.29694	0.994000	0.84299	-3.122000	0.00594	-1.875000	0.01132	-0.262000	0.10625	GGA	.		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98581870	G	C	98581870	2	2	53	1	0	0	0	0	0	0	0	1	16649	1161	41	3		3	TRRAP	7	98581870	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	6417585	98581870	60556793	52	11398											
PTPRN2	5799	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	157333452	157333452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttcacctcctcagccaCggctgtcagcgcgaactcaa	10	16	4	0	rs138836883		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr7:157333452C>T	ENST00000389418.4	-	23	3013	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	PTPRN2_ENST00000409483.1_Missense_Mutation_p.V964M|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V973M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V1025M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V985M	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	1002	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTCAGCCACGGCTGTCAGC	0.657																																					p.V1002M		.											.	PTPRN2-295	0			c.G3004A						.		MET/VAL,MET/VAL,MET/VAL	1,4389		0,1,2194	25	25	25		3004,2953,2917	4.7	0.9	7	dbSNP_134	25	0,8576		0,0,4288	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	21,21,21	0,1,6482	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging	1002/1016,985/999,973/987	157333452	1,12965	2195	4288	6483	SO:0001583	missense	5799	exon23			CAGCCACGGCTGT	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.3004G>A	7.37:g.157333452C>T	ENSP00000374069:p.Val1002Met	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	267	20	NM_002847	0	0	10	11	1	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602298	0.87055	2.28E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	D	0.92344	0.7571	M	0.78456	2.415	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	0.981;0.989;0.969;1.0;0.982	D	0.93293	0.6670	10	0.66056	D	0.02	.	17.927	0.88986	0.0:1.0:0.0:0.0	.	1025;964;973;985;1002	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	964;973;985;1002;1025	ENSP00000387114:V964M;ENSP00000374064:V973M;ENSP00000374067:V985M;ENSP00000374069:V1002M;ENSP00000385464:V1025M	ENSP00000374064:V973M	V	-	1	0	PTPRN2	157026213	1.000000	0.71417	0.931000	0.37212	0.761000	0.43186	7.052000	0.76634	2.307000	0.77673	0.561000	0.74099	GTG	C|1.000;T|0.000		0.657	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157333452	C	T	157333452	3	4	53	1	0	0	0	0	1	0	0	0	12853	536	19	1	47	1	PTPRN2	7	157333452	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	58751582	157333452	1805211	53	11399											
EBF2	64641	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	25708132	25708132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatccatttccattgccGctggagcaggcaggtgaagg	13	10	0	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:25708132G>A	ENST00000520164.1	-	15	2211	c.1674C>T	c.(1672-1674)agC>agT	p.S558S	EBF2_ENST00000408929.3_Silent_p.S410S|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	558					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)			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)		TTCCATTGCCGCTGGAGCAGG	0.488																																					p.S558S	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	.											.	EBF2-26	0			c.C1674T						.						127	125	126					8																	25708132		1948	4136	6084	SO:0001819	synonymous_variant	64641	exon15			ATTGCCGCTGGAG	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.1674C>T	8.37:g.25708132G>A		Somatic	209	1		WXS	Illumina GAIIx	Phase_I	152	18	NM_022659	0	0	1	1	0	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	CCDS43726.1																																																																																			.		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25708132	G	A	25708132	2	1	53	1	0	0	0	0	0	0	0	1	4895	1078	38	1		1	EBF2	8	25708132	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		25708132	120655890	54	11400											
ADAM2	2515	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	39634610	39634610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatgtcatcataagtgAtccccatactaaggctcaat	6	9	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:39634610A>T	ENST00000265708.4	-	11	1065	c.962T>A	c.(961-963)aTc>aAc	p.I321N	ADAM2_ENST00000347580.4_Missense_Mutation_p.I302N|ADAM2_ENST00000521880.1_Missense_Mutation_p.I321N|ADAM2_ENST00000379853.2_Missense_Mutation_p.I195N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	321	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.			I -> T (in Ref. 1; AAC51110). {ECO:0000305}.	adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATCATAAGTGATCCCCATACT	0.353																																					p.I321N		.											.	ADAM2-227	0			c.T962A						.						75	72	73					8																	39634610		2203	4300	6503	SO:0001583	missense	2515	exon11			TAAGTGATCCCCA	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.962T>A	8.37:g.39634610A>T	ENSP00000265708:p.Ile321Asn	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	84	7	NM_001464	0	0	0	1	1	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924431	0.34002	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.58	5.58	0.84498	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.83211	0.5205	M	0.86953	2.85	0.09310	N	1	D;D;D;D	0.89917	0.995;1.0;0.993;0.995	D;D;D;D	0.77004	0.981;0.989;0.967;0.986	T	0.76669	-0.2874	8	.	.	.	.	12.1357	0.53970	1.0:0.0:0.0:0.0	.	321;195;302;321	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	N	302;195;321;321	ENSP00000343854:I302N;ENSP00000369182:I195N;ENSP00000265708:I321N;ENSP00000429352:I321N	.	I	-	2	0	ADAM2	39753767	0.323000	0.24643	0.103000	0.21229	0.068000	0.16541	4.542000	0.60677	2.121000	0.65114	0.528000	0.53228	ATC	.		0.353	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		T	39634610	A	T	39634610	3	4	53	1	0	0	0	0	1	0	0	0	241	333	12	5	1285	5	ADAM2	8	39634610	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	13926478	39634610	106729412	55	11401											
CHRNB3	1142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	42586825	42586825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcagtgctgacggccgcttCgaaggctccctgatgaccaa	12	13	0	3			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:42586825C>A	ENST00000289957.2	+	5	503	c.375C>A	c.(373-375)ttC>ttA	p.F125L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.F125F(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ACGGCCGCTTCGAAGGCTCCC	0.507																																					p.F125L		.											.	CHRNB3-91	2	Substitution - coding silent(2)	large_intestine(2)	c.C375A						.						49	48	48					8																	42586825		2203	4300	6503	SO:0001583	missense	1142	exon5			CCGCTTCGAAGGC	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.375C>A	8.37:g.42586825C>A	ENSP00000289957:p.Phe125Leu	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	106	61	NM_000749	0	0	0	0	0	Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147648	0.37923	.	.	ENSG00000147432	ENST00000289957	T	0.79454	-1.27	5.35	-5.04	0.02964	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.71581	2.175	0.51482	D	0.999925	D	0.76494	0.999	D	0.87578	0.998	D	0.83923	0.0302	10	0.87932	D	0	.	15.8638	0.79047	0.0:0.2906:0.0:0.7094	.	125	Q05901	ACHB3_HUMAN	L	125	ENSP00000289957:F125L	ENSP00000289957:F125L	F	+	3	2	CHRNB3	42705982	0.334000	0.24739	0.584000	0.28653	0.081000	0.17604	-0.346000	0.07760	-1.335000	0.02241	-1.484000	0.00983	TTC	.		0.507	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			A	42586825	C	A	42586825	3	1	53	1	0	0	0	0	1	0	0	0	3399	883	31	2	393	2	CHRNB3	8	42586825	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	2952215	42586825	103777197	56	11402											
PXDNL	137902	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	52321748	52321748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgtggtccaagtcGtgctctagaaaccagcccca	11	13	1	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:52321748G>A	ENST00000356297.4	-	17	2536	c.2436C>T	c.(2434-2436)caC>caT	p.H812H	PXDNL_ENST00000543296.1_Silent_p.H812H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	812					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)				GGTCCAAGTCGTGCTCTAGAA	0.677																																					p.H812H		.											.	PXDNL-70	0			c.C2436T						.						15	19	18					8																	52321748		2124	4234	6358	SO:0001819	synonymous_variant	137902	exon17			CAAGTCGTGCTCT		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.2436C>T	8.37:g.52321748G>A		Somatic	17	0		WXS	Illumina GAIIx	Phase_I	26	5	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																			.		0.677	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52321748	G	A	52321748	2	1	53	1	0	0	0	0	0	0	0	1	12893	1136	40	1		1	PXDNL	8	52321748	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	9734923	52321748	94042274	57	11403											
E2F5	1875	hgsc.bcm.edu	37	chr8	86089787	86089787	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgcagctcgggggcgcCgggggcggcagcagcaggca	20	15	0	0	rs12926	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:86089787C>G	ENST00000416274.2	+	1	166	c.132C>G	c.(130-132)gcC>gcG	p.A44A	RP11-219B4.7_ENST00000566000.1_RNA|E2F5_ENST00000256117.5_Silent_p.A44A|E2F5_ENST00000418930.2_Silent_p.A44A|RP11-219B4.3_ENST00000520129.1_RNA|RP11-219B4.7_ENST00000562577.1_RNA	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	44					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCGGGGGCGCCGGGGGCGGCA	0.751													C|||	2815	0.562101	0.5545	0.549	5008	,	,		6370	0.4157		0.6928	False		,,,				2504	0.5982				p.A44A		.											.	E2F5-415	0			c.C132G						.	C	,	2392,1558		800,792,383	4	5	5		132,132	0.9	0.1	8	dbSNP_52	5	5668,2428		2076,1516,456	no	coding-synonymous,coding-synonymous	E2F5	NM_001083588.1,NM_001951.3	,	2876,2308,839	GG,GC,CC		29.9901,39.443,33.0898	,	44/346,44/347	86089787	8060,3986	1975	4048	6023	SO:0001819	synonymous_variant	1875	exon1			GGGCGCCGGGGGC	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.132C>G	8.37:g.86089787C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001083588	0	0	0	0	0	E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	CCDS47885.1																																																																																			C|0.434;G|0.566		0.751	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		G	86089787	C	G	86089787	2	3	53	1	0	0	0	0	0	0	0	1	4884	639	23	2		2	E2F5	8	86089787	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	33768039	86089787	60274235	58	11404											
ESRP1	54845	bcgsc.ca	37	chr8	95655596	95655596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgtctctgtactgaTgggcagcttcatgtcaggca	10	11	4	1	rs72676907	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr8:95655596T>C	ENST00000433389.2	+	3	517	c.327T>C	c.(325-327)gaT>gaC	p.D109D	ESRP1_ENST00000358397.5_Silent_p.D109D|ESRP1_ENST00000454170.2_Silent_p.D109D|ESRP1_ENST00000423620.2_Silent_p.D109D	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	109					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						TCTGTACTGATGGGCAGCTTC	0.468													T|||	323	0.0644968	0.0053	0.0735	5008	,	,		19201	0.002		0.1968	False		,,,				2504	0.0665				p.D109D		.											.	ESRP1-94	0			c.T327C						.	T	,,,,	127,3771		4,119,1826	110	106	107		327,327,327,327,327	-2.6	0.9	8	dbSNP_130	107	1501,6773		135,1231,2771	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRP1	NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3	,,,,	139,1350,4597	CC,CT,TT		18.1412,3.2581,13.375	,,,,	109/678,109/609,109/660,109/605,109/682	95655596	1628,10544	1949	4137	6086	SO:0001819	synonymous_variant	54845	exon3			TACTGATGGGCAG	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.327T>C	8.37:g.95655596T>C		Somatic	156	0		WXS	Illumina GAIIx	Phase_I	157	6	NM_001122827	0	0	0	0	0	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	CCDS47897.1																																																																																			T|0.887;C|0.113		0.468	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		C	95655596	T	C	95655596	2	2	53	1	0	0	0	0	0	0	0	1	5274	1461	51	4		4	ESRP1	8	95655596	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	9565809	95655596	50708426	59	11405											
SMARCA2	6595	bcgsc.ca	37	chr9	2191309	2191309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctcaataaaaaagatgaCaaaggccgggacaaagggaa	11	6	1	2	rs2296212	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr9:2191309C>G	ENST00000382203.1	+	33	4847	c.4638C>G	c.(4636-4638)gaC>gaG	p.D1546E	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1528E|SMARCA2_ENST00000382186.1_Missense_Mutation_p.D210E|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1528E|SMARCA2_ENST00000382185.1_Missense_Mutation_p.D192E|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1546E|SMARCA2_ENST00000324954.5_Missense_Mutation_p.D192E|SMARCA2_ENST00000302401.3_Missense_Mutation_p.D234E			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1546			D -> E (in dbSNP:rs2296212).		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAAAAGATGACAAAGGCCGGG	0.413													G|||	1120	0.223642	0.3071	0.2061	5008	,	,		20895	0.2163		0.0984	False		,,,				2504	0.2597				p.D1546E		.											.	SMARCA2-653	0			c.C4638G						.	G	GLU/ASP,GLU/ASP	1187,3219	710.9+/-407.9	149,889,1165	111	95	100	http://omim.org/entry/600014	4584,4638	3.8	1	9	dbSNP_100	100	962,7638	775.6+/-407.7	53,856,3391	yes	missense,missense	SMARCA2	NM_139045.2,NM_003070.3	45,45	202,1745,4556	GG,GC,CC		11.186,26.9405,16.5231	benign,benign	1528/1573,1546/1591	2191309	2149,10857	2203	4300	6503	SO:0001583	missense	6595	exon33			AGATGACAAAGGC	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.4638C>G	9.37:g.2191309C>G	ENSP00000371638:p.Asp1546Glu	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	170	6	NM_003070	0	0	3	3	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	397	0.18177655677655677	143	0.29065040650406504	70	0.19337016574585636	115	0.20104895104895104	69	0.09102902374670185	G	5.237	0.229183	0.09916	0.269405	0.11186	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000382182	D;D;D;D;T;T;T;T;T;T	0.86956	-2.19;-2.13;-2.19;-2.13;3.19;3.34;3.12;3.35;3.34;3.34	5.71	3.76	0.43208	.	0.232312	0.35466	N	0.003181	T	0.00012	0.0000	N	0.03115	-0.41	0.49798	P	1.7100000000003224E-4	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	0.04090	-1.0978	9	0.02654	T	1	-24.9	12.6243	0.56620	0.0717:0.5959:0.3323:0.0	rs2296212;rs2296212	232;234;1528;1546	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	E	1546;1528;1546;1528;234;192;210;232;192;192;75	ENSP00000265773:D1546E;ENSP00000349788:D1528E;ENSP00000371638:D1546E;ENSP00000371629:D1528E;ENSP00000305411:D234E;ENSP00000324770:D192E;ENSP00000371621:D210E;ENSP00000387486:D232E;ENSP00000371620:D192E;ENSP00000371618:D192E	ENSP00000305411:D234E	D	+	3	2	SMARCA2	2181309	0.982000	0.34865	1.000000	0.80357	0.994000	0.84299	0.094000	0.15107	0.742000	0.32697	-0.127000	0.14921	GAC	C|0.831;G|0.169		0.413	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		G	2191309	C	G	2191309	3	3	53	1	0	0	0	0	1	0	0	0	14814	477	17	3	4764	3	SMARCA2	9	2191309	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		2191309	139022122	60	11406											
KDM4C	23081	bcgsc.ca	37	chr9	7174673	7174673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatatgtggccgaccctGtataccgcacttttttgaag	9	9	0	2	rs913588	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr9:7174673G>A	ENST00000381309.3	+	22	3680	c.3115G>A	c.(3115-3117)Gta>Ata	p.V1039I	KDM4C_ENST00000428870.2_Missense_Mutation_p.V726I|KDM4C_ENST00000442236.2_Missense_Mutation_p.V784I	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1039			V -> I (in dbSNP:rs913588). {ECO:0000269|PubMed:15489334}.		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						GGCCGACCCTGTATACCGCAC	0.468													G|||	1594	0.318291	0.3215	0.3919	5008	,	,		19345	0.1151		0.4751	False		,,,				2504	0.3098				p.V1039I		.											.	KDM4C-228	0			c.G3115A						.	G	ILE/VAL	1546,2860	488.0+/-361.1	271,1004,928	165	170	168		3115	4.7	1	9	dbSNP_86	168	4279,4321	576.0+/-390.3	1074,2131,1095	yes	missense	KDM4C	NM_015061.3	29	1345,3135,2023	AA,AG,GG		49.7558,35.0885,44.787	benign	1039/1057	7174673	5825,7181	2203	4300	6503	SO:0001583	missense	23081	exon22			GACCCTGTATACC	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.3115G>A	9.37:g.7174673G>A	ENSP00000370710:p.Val1039Ile	Somatic	169	2		WXS	Illumina GAIIx	Phase_I	122	6	NM_015061	0	0	3	3	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	753	0.3447802197802198	165	0.3353658536585366	133	0.3674033149171271	75	0.13111888111888112	380	0.5013192612137203	G	11.78	1.740653	0.30865	0.350885	0.497558	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.34275	1.37;1.37;1.37	5.69	4.74	0.60224	.	0.240620	0.33005	N	0.005393	T	0.00012	0.0000	N	0.01874	-0.695	0.47153	P	6.610000000000227E-4	B;B	0.30406	0.278;0.011	B;B	0.24974	0.057;0.006	T	0.33420	-0.9869	9	0.32370	T	0.25	-13.4956	11.1935	0.48698	0.0:0.1374:0.7201:0.1425	rs913588;rs17597498;rs56477554;rs59891141;rs913588	784;1039	E7EV17;Q9H3R0	.;KDM4C_HUMAN	I	1039;784;726	ENSP00000370710:V1039I;ENSP00000409353:V784I;ENSP00000405739:V726I	ENSP00000370710:V1039I	V	+	1	0	KDM4C	7164673	0.447000	0.25673	0.994000	0.49952	0.875000	0.50365	2.329000	0.43876	2.671000	0.90904	0.591000	0.81541	GTA	G|0.609;A|0.391		0.468	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		A	7174673	G	A	7174673	3	1	53	1	0	0	0	0	1	0	0	0	8157	1377	48	3	3439	3	KDM4C	9	7174673	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	4983364	7174673	134038758	61	11407											
SYK	6850	bcgsc.ca	37	chr9	93640009	93640009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgagtcctggatgctGgttatggagatggcagaact	16	7	0	2	rs2290887	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr9:93640009G>A	ENST00000375754.4	+	10	1486	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	SYK_ENST00000375751.4_Silent_p.L423L|SYK_ENST00000375747.1_Silent_p.L423L|SYK_ENST00000375746.1_Silent_p.L446L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCTGGATGCTGGTTATGGAGA	0.502			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								G|||	982	0.196086	0.2095	0.366	5008	,	,		20829	0.2321		0.1362	False		,,,				2504	0.0818				p.L446L		.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK-1402	0			c.G1338A						.	G	,,,	928,3478	355.1+/-312.9	91,746,1366	138	116	123		1269,1338,1269,1338	3.7	1	9	dbSNP_100	123	1215,7385	245.3+/-274.2	88,1039,3173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	179,1785,4539	AA,AG,GG		14.1279,21.0622,16.477	,,,	423/613,446/636,423/613,446/636	93640009	2143,10863	2203	4300	6503	SO:0001819	synonymous_variant	6850	exon10			GATGCTGGTTATG	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1338G>A	9.37:g.93640009G>A		Somatic	258	0		WXS	Illumina GAIIx	Phase_I	200	7	NM_003177	0	0	0	0	0		Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																			G|0.824;A|0.176		0.502	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			A	93640009	G	A	93640009	2	1	53	1	0	0	0	0	0	0	0	1	15485	1335	47	3		3	SYK	9	93640009	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	86465336	93640009	47573422	62	11408											
AKAP2	11217	hgsc.bcm.edu	37	chr9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagtctcctggaccccCggagtctcctggacccccgg	12	19	2	0	rs78923754	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2	3	2		59,59,,	0.3	0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001004065	0	0	0	0	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		T	112811038	C	T	112811038	3	4	53	1	0	0	0	0	1	0	0	0	451	652	23	1	61	1	AKAP2	9	112811038	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	19171029	112811038	28402393	63	11409											
PRDM12	59335	bcgsc.ca	37	chr9	133553993	133553993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggatcccaggtgtgccCgggctagaggaggaccagaa	17	10	0	2	rs7021384	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr9:133553993C>T	ENST00000253008.2	+	4	708	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	216					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGGTGTGCCCGGGCTAGAGG	0.592													C|||	1893	0.377995	0.3336	0.451	5008	,	,		18722	0.4722		0.3211	False		,,,				2504	0.3476				p.P216P		.											.	PRDM12-90	0			c.C648T						.	C		1542,2864	486.4+/-360.6	264,1014,925	89	85	86		648	-11.5	0	9	dbSNP_116	86	2733,5867	436.9+/-358.5	436,1861,2003	no	coding-synonymous	PRDM12	NM_021619.2		700,2875,2928	TT,TC,CC		31.7791,34.9977,32.8694		216/368	133553993	4275,8731	2203	4300	6503	SO:0001819	synonymous_variant	59335	exon4			TGTGCCCGGGCTA	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.648C>T	9.37:g.133553993C>T		Somatic	223	1		WXS	Illumina GAIIx	Phase_I	168	8	NM_021619	0	0	0	0	0	A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																			C|0.650;T|0.350		0.592	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		T	133553993	C	T	133553993	2	4	53	1	0	0	0	0	0	0	0	1	12495	639	23	1		1	PRDM12	9	133553993	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	20742955	133553993	7659438	64	11410											
PITRM1	10531	hgsc.bcm.edu	37	chr10	3214937	3214937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcctcagcacacacaGgccctgccgcccgccgcagc	10	22	1	0	rs572092794		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:3214937G>A	ENST00000224949.4	-	1	62	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PITRM1_ENST00000451104.2_Missense_Mutation_p.P12L|PITRM1_ENST00000380989.2_Silent_p.L10L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	10					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AGCACACACAGGCCCTGCCGC	0.756													G|||	1	0.000199681	0	0	5008	,	,		8769	0		0.001	False		,,,				2504	0				p.P12L		.											.	PITRM1-91	0			c.C35T						.						4	7	6					10																	3214937		1873	3764	5637	SO:0001819	synonymous_variant	10531	exon1			CACACAGGCCCTG	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.28C>T	10.37:g.3214937G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	63	50	NM_001242309	0	0	0	0	0	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783106	0.16189	.	.	ENSG00000107959	ENST00000380980;ENST00000451104	T	0.04049	3.72	3.31	-1.02	0.10135	.	.	.	.	.	T	0.02230	0.0069	.	.	.	0.09310	N	0.999993	B	0.06786	0.001	B	0.01281	0.0	T	0.48186	-0.9057	7	.	.	.	.	0.5482	0.00657	0.2427:0.1955:0.3619:0.1999	.	12	E7ES23	.	L	12	ENSP00000401201:P12L	.	P	-	2	0	PITRM1	3204937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-0.082000	0.12640	-1.943000	0.00494	CCT	.		0.756	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			A	3214937	G	A	3214937	2	1	53	1	0	0	0	0	0	0	0	1	11992	991	35	3		3	PITRM1	10	3214937	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		3214937	132319810	65	11411											
MYPN	84665	bcgsc.ca	37	chr10	69926334	69926334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagaccaggcccgattctttCcaggagaggttcaacggaca	11	12	2	2	rs10823148	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:69926334C>G	ENST00000358913.5	+	10	2372	c.1884C>G	c.(1882-1884)ttC>ttG	p.F628L	MYPN_ENST00000354393.2_Missense_Mutation_p.F353L|MYPN_ENST00000540630.1_Missense_Mutation_p.F628L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	628			F -> L (in dbSNP:rs10823148). {ECO:0000269|PubMed:22286171, ECO:0000269|PubMed:22892539}.		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						CCGATTCTTTCCAGGAGAGGT	0.537													C|||	1585	0.316494	0.1104	0.4049	5008	,	,		16523	0.2163		0.5099	False		,,,				2504	0.4366				p.F628L		.											.	MYPN-95	0			c.C1884G						.	C	LEU/PHE	768,3638	311.9+/-292.3	73,622,1508	71	66	68		1884	4.3	1	10	dbSNP_120	68	4382,4218	582.8+/-391.5	1167,2048,1085	yes	missense	MYPN	NM_032578.2	22	1240,2670,2593	GG,GC,CC		49.0465,17.4308,39.5971	benign	628/1321	69926334	5150,7856	2203	4300	6503	SO:0001583	missense	84665	exon10			TTCTTTCCAGGAG	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.1884C>G	10.37:g.69926334C>G	ENSP00000351790:p.Phe628Leu	Somatic	113	1		WXS	Illumina GAIIx	Phase_I	95	7	NM_032578	0	0	0	0	0	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	736	0.336996336996337	64	0.13008130081300814	157	0.43370165745856354	128	0.22377622377622378	387	0.5105540897097626	C	0.738	-0.777515	0.02929	0.174308	0.509535	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.55588	0.51;0.57;0.55	5.29	4.3	0.51218	.	0.087877	0.49305	D	0.000149	T	0.00012	0.0000	N	0.22421	0.69	0.29149	P	0.878514	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.13407	0.009;0.006;0.003	T	0.45071	-0.9286	8	.	.	.	.	7.6139	0.28145	0.129:0.6838:0.1132:0.0741	rs10823148;rs17457985;rs52812887;rs10823148	628;353;628	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	353;353;628;628	ENSP00000346369:F353L;ENSP00000351790:F628L;ENSP00000441668:F628L	.	F	+	3	2	MYPN	69596340	1.000000	0.71417	0.994000	0.49952	0.087000	0.18053	2.051000	0.41307	2.455000	0.83008	0.655000	0.94253	TTC	C|0.625;G|0.374		0.537	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		G	69926334	C	G	69926334	3	3	53	1	0	0	0	0	1	0	0	0	10136	854	30	3	1918	3	MYPN	10	69926334	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	66711397	69926334	65608413	66	11412											
SEC31B	25956	bcgsc.ca	37	chr10	102265847	102265847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcctacccatcacagAgtacaaactgatccagccgt	6	16	1	2	rs2295774	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:102265847A>C	ENST00000370345.3	-	9	1091	c.994T>G	c.(994-996)Tct>Gct	p.S332A	SEC31B_ENST00000451524.1_Missense_Mutation_p.S332A|SEC31B_ENST00000535773.1_Missense_Mutation_p.S175A|SEC31B_ENST00000370329.5_Missense_Mutation_p.S335A	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	332			S -> A (in dbSNP:rs2295774). {ECO:0000269|PubMed:15489334}.		protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCATCACAGAGTACAAACTG	0.542													A|||	751	0.14996	0.0719	0.1744	5008	,	,		19627	0.1319		0.1909	False		,,,				2504	0.2147				p.S332A		.											.	SEC31B-91	0			c.T994G						.	A	ALA/SER	340,4066	181.5+/-209.5	13,314,1876	158	156	157		994	5.9	1	10	dbSNP_100	157	1888,6712	335.8+/-321.6	216,1456,2628	yes	missense	SEC31B	NM_015490.3	99	229,1770,4504	CC,CA,AA		21.9535,7.7167,17.1306	probably-damaging	332/1180	102265847	2228,10778	2203	4300	6503	SO:0001583	missense	25956	exon9			TCACAGAGTACAA	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.994T>G	10.37:g.102265847A>C	ENSP00000359370:p.Ser332Ala	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	146	5	NM_015490	0	0	1	1	0	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	338	0.15476190476190477	19	0.03861788617886179	66	0.18232044198895028	94	0.16433566433566432	159	0.20976253298153033	A	32	5.124589	0.94429	0.077167	0.219535	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	T;T;T;T	0.71817	1.47;1.47;-0.6;1.47	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050373	0.85682	D	0.000000	T	0.00300	0.0009	M	0.92169	3.28	0.09310	P	0.9999999837421	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.979;0.994;0.979;0.987	T	0.01566	-1.1323	9	0.72032	D	0.01	-11.7028	15.579	0.76418	1.0:0.0:0.0:0.0	rs2295774;rs2295774	332;335;331;332;332	A8KAL6;B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;.;SC31B_HUMAN	A	332;332;175;335	ENSP00000359370:S332A;ENSP00000391178:S332A;ENSP00000442621:S175A;ENSP00000359354:S335A	ENSP00000359354:S335A	S	-	1	0	SEC31B	102255837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.334000	0.79224	2.279000	0.76181	0.459000	0.35465	TCT	A|0.836;C|0.164		0.542	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		C	102265847	A	C	102265847	3	2	53	1	0	0	0	0	1	0	0	0	14044	304	11	5	2617	5	SEC31B	10	102265847	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	32339513	102265847	33268900	67	11413											
ATRNL1	26033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	116853707	116853707	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaagccgtgcgagaggacCggctcctgcttctcgggccg	14	15	1	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:116853707C>A	ENST00000355044.3	+	1	324	c.198C>A	c.(196-198)acC>acA	p.T66T	ATRNL1_ENST00000527407.1_Silent_p.T66T|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	66	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCGAGAGGACCGGCTCCTGCT	0.662																																					p.T66T		.											.	ATRNL1-96	0			c.C198A						.						20	19	19					10																	116853707		2189	4275	6464	SO:0001819	synonymous_variant	26033	exon1			GAGGACCGGCTCC	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.198C>A	10.37:g.116853707C>A		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	75	30	NM_207303	0	0	0	0	0	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																			.		0.662	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		A	116853707	C	A	116853707	2	1	53	1	0	0	0	0	0	0	0	1	1208	639	23	2		2	ATRNL1	10	116853707	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	14587860	116853707	18681040	68	11414											
LHPP	64077	hgsc.bcm.edu	37	chr10	126150523	126150523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcgcgggcggcggcaCggccatcgccggctcggtgg	20	15	0	0	rs75426652	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:126150523C>A	ENST00000368842.5	+	1	120	c.92C>A	c.(91-93)aCg>aAg	p.T31K	LHPP_ENST00000368839.1_Missense_Mutation_p.T31K|LHPP_ENST00000392757.4_Missense_Mutation_p.T31K	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	31					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		GGCGGCGGCACGGCCATCGCC	0.771													C|||	497	0.0992412	0.3427	0.0288	5008	,	,		7758	0.0109		0.0119	False		,,,				2504	0.001				p.T31K	GBM(165;1980 2715 15999 18454)	.											.	LHPP-90	0			c.C92A						.	C	LYS/THR,LYS/THR	756,2764		49,658,1053	5	5	5		92,92	-8.6	0	10	dbSNP_131	5	60,6906		1,58,3424	no	missense,missense	LHPP	NM_001167880.1,NM_022126.3	78,78	50,716,4477	AA,AC,CC		0.8613,21.4773,7.7818	benign,benign	31/211,31/271	126150523	816,9670	1760	3483	5243	SO:0001583	missense	64077	exon1			GCGGCACGGCCAT	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.92C>A	10.37:g.126150523C>A	ENSP00000357835:p.Thr31Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_022126	0	0	0	1	1	B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	CCDS7640.1	176	0.08058608058608059	156	0.3170731707317073	10	0.027624309392265192	3	0.005244755244755245	7	0.009234828496042216	C	4.235	0.042626	0.08196	0.214773	0.008613	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.26810	1.71;1.71;1.71	4.3	-8.6	0.00889	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	2.588180	0.01329	N	0.011196	T	0.00012	0.0000	N	0.17838	0.53	0.80722	P	0.0	B;B;B	0.15719	0.014;0.01;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.26849	-1.0091	9	0.07813	T	0.8	0.4261	4.7267	0.12945	0.0882:0.123:0.2632:0.5256	.	31;31;31	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	K	31	ENSP00000376512:T31K;ENSP00000357835:T31K;ENSP00000357832:T31K	ENSP00000357832:T31K	T	+	2	0	LHPP	126140513	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-1.087000	0.03383	-2.575000	0.00465	-0.300000	0.09419	ACG	C|0.919;A|0.081		0.771	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		A	126150523	C	A	126150523	3	1	53	1	0	0	0	0	1	0	0	0	8798	536	19	2	94	2	LHPP	10	126150523	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	9296816	126150523	9384224	69	11415											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219066	134219066	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaccgggccgagctggtGggggagctgaacgggtacct	19	9	0	1	rs76595411	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr10:134219066G>C	ENST00000305233.5	+	2	1121	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	PWWP2B_ENST00000368609.4_Silent_p.V354V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	354										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCGAGCTGGTGGGGGAGCTGA	0.726													G|||	150	0.0299521	0.0083	0.0504	5008	,	,		14238	0.002		0.0636	False		,,,				2504	0.0389				p.V354V		.											.	PWWP2B-90	0			c.G1062C						.	G	,	58,4234		0,58,2088	21	26	24		1062,1062	-1.9	0.8	10	dbSNP_132	24	487,7941		17,453,3744	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	17,511,5832	CC,CG,GG		5.7784,1.3514,4.2846	,	354/500,354/591	134219066	545,12175	2146	4214	6360	SO:0001819	synonymous_variant	170394	exon2			GCTGGTGGGGGAG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1062G>C	10.37:g.134219066G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_001098637	0	0	0	10	10	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			G|0.955;C|0.045		0.726	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		C	134219066	G	C	134219066	2	2	53	1	0	0	0	0	0	0	0	1	12891	1335	47	3		3	PWWP2B	10	134219066	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	8068543	134219066	1315681	70	11416											
MUC2	4583	broad.mit.edu	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	6	21	0	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I		.											.	MUC2-90	0			c.C4790T						.						47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	93	7	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092971	C	T	1092971	3	4	53	1	0	0	0	0	1	0	0	0	10013	478	17	3	4908	3	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		1092971	133913545	71	11417											
SCUBE2	57758	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	9101018	9101018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatattcaaacagtcatggaCacagcctccattgagctcat	6	11	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:9101018C>A	ENST00000309263.3	-	3	367	c.295G>T	c.(295-297)Gtc>Ttc	p.V99F	SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000457346.2_Missense_Mutation_p.V99F|SCUBE2_ENST00000450649.2_Missense_Mutation_p.V99F|SCUBE2_ENST00000520467.1_Missense_Mutation_p.V99F			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	99	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					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)		CAGTCATGGACACAGCCTCCA	0.403																																					p.V99F		.											.	SCUBE2-92	0			c.G295T						.						242	198	213					11																	9101018		2201	4296	6497	SO:0001583	missense	57758	exon3			CATGGACACAGCC	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.295G>T	11.37:g.9101018C>A	ENSP00000310658:p.Val99Phe	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	105	9	NM_001170690	0	0	1	1	0	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.361610	0.95877	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.37	5.37	0.77165	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	0.89287	0.6672	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.986;0.978;0.935	D	0.90724	0.4637	10	0.66056	D	0.02	.	19.4788	0.95000	0.0:1.0:0.0:0.0	.	99;99;99	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	F	99	ENSP00000390481:V99F;ENSP00000310658:V99F;ENSP00000415187:V99F;ENSP00000429969:V99F	ENSP00000310658:V99F	V	-	1	0	SCUBE2	9057594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.684000	0.84104	2.676000	0.91093	0.655000	0.94253	GTC	.		0.403	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9101018	C	A	9101018	3	1	53	1	0	0	0	0	1	0	0	0	13990	478	17	3	2875	3	SCUBE2	11	9101018	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	8008047	9101018	125905498	72	11418											
ATG2A	23130	hgsc.bcm.edu	37	chr11	64673875	64673880	+	In_Frame_Del	DEL	GCCCTT	GCCCTT	-													atgtggggtccccggccctgGcccttgcggcccgaggctcc					rs369499174		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	GCCCTT	GCCCTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:64673875_64673880delGCCCTT	ENST00000377264.3	-	21	3221_3226	c.3109_3114delAAGGGC	c.(3109-3114)aagggcdel	p.KG1037del	ATG2A_ENST00000421419.2_In_Frame_Del_p.KG1037del	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1037					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						CCCGGCCCTGGCCCTTGCGGCCCGAG	0.655																																					p.1037_1038del		.											.	ATG2A-69	0			c.3109_3114del						.																																			SO:0001651	inframe_deletion	23130	exon21			GCCCTGGCCCTTG		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.3109_3114delAAGGGC	11.37:g.64673875_64673880delGCCCTT	ENSP00000366475:p.Lys1037_Gly1038del	Somatic	5	1		WXS	Illumina GAIIx	Phase_I	33	21	NM_015104	0	0	0	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	In_Frame_Del	DEL	ENST00000377264.3	37	CCDS31602.1																																																																																			.		0.655	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		-	64673880	GCCCTT	-	64673875	7	5	53	1	0	1	0	1	0	0	0	0	1094	1190	42	0	2786	0	ATG2A	11	64673875	In_Frame_Del	DEL	GCCCTT	TCGA-OR-A5LK-01A-11D-A29I-10	55572857	64673875	70332641	73	11419											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	99942451	99942451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacagagtagggttgagatGgttaatggagtattgatgat	14	1	0	4			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:99942451G>T	ENST00000524871.1	+	12	1604	c.1314G>T	c.(1312-1314)atG>atT	p.M438I	CNTN5_ENST00000279463.3_Missense_Mutation_p.M438I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M438I|CNTN5_ENST00000527185.1_Missense_Mutation_p.M438I|CNTN5_ENST00000418526.2_Missense_Mutation_p.M364I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	438	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGGTTGAGATGGTTAATGGAG	0.343																																					p.M438I		.											.	CNTN5-366	0			c.G1314T						.						115	105	108					11																	99942451		1853	4110	5963	SO:0001583	missense	53942	exon11			TGAGATGGTTAAT	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.1314G>T	11.37:g.99942451G>T	ENSP00000435637:p.Met438Ile	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	84	12	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	3.035	-0.198697	0.06219	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.48	4.38	0.52667	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.080619	0.85682	D	0.000000	T	0.25005	0.0607	N	0.00602	-1.34	0.39898	D	0.973869	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.005;0.004;0.007	T	0.33650	-0.9860	10	0.02654	T	1	.	10.5911	0.45310	0.1182:0.0:0.8818:0.0	.	438;364;438	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	I	438;438;438;364;438	ENSP00000433575:M438I;ENSP00000436185:M438I;ENSP00000435637:M438I;ENSP00000393229:M364I;ENSP00000279463:M438I	ENSP00000279463:M438I	M	+	3	0	CNTN5	99447661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.897000	0.48664	1.018000	0.39521	0.655000	0.94253	ATG	.		0.343	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99942451	G	T	99942451	3	4	53	1	0	0	0	0	1	0	0	0	3651	1348	47	3	1352	3	CNTN5	11	99942451	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	35268576	99942451	35064065	74	11420											
SORL1	6653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	121490527	121490527	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtagtgaagatgatcccggaCagcaggcttccaccccgtca	11	13	1	3			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:121490527C>G	ENST00000260197.7	+	43	5919	c.5790C>G	c.(5788-5790)gaC>gaG	p.D1930E	SORL1_ENST00000534286.1_Missense_Mutation_p.D840E|SORL1_ENST00000532694.1_Missense_Mutation_p.D776E|SORL1_ENST00000525532.1_Missense_Mutation_p.D874E|SORL1_ENST00000527934.1_Missense_Mutation_p.D545E	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1930					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGATCCCGGACAGCAGGCTTC	0.537																																					p.D1930E		.											.	SORL1-228	0			c.C5790G						.						219	187	198					11																	121490527		2202	4299	6501	SO:0001583	missense	6653	exon43			CCCGGACAGCAGG	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5790C>G	11.37:g.121490527C>G	ENSP00000260197:p.Asp1930Glu	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	147	40	NM_003105	0	0	0	0	0	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650688	0.47362	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;T;D;D	0.91631	-2.88;-2.62;0.59;-2.3;-2.15	5.77	4.81	0.61882	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.055720	0.64402	D	0.000001	D	0.90981	0.7164	L	0.34521	1.04	0.48288	D	0.99962	D;D	0.67145	0.996;0.982	P;B	0.55923	0.787;0.446	D	0.90963	0.4814	10	0.72032	D	0.01	.	9.8541	0.41075	0.0:0.7776:0.0:0.2224	.	545;1930	E9PKB0;Q92673	.;SORL_HUMAN	E	1930;874;776;840;545	ENSP00000260197:D1930E;ENSP00000434634:D874E;ENSP00000432131:D776E;ENSP00000436447:D840E;ENSP00000435405:D545E	ENSP00000260197:D1930E	D	+	3	2	SORL1	120995737	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.382000	0.34374	1.331000	0.45412	0.561000	0.74099	GAC	.		0.537	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		G	121490527	C	G	121490527	3	3	53	1	0	0	0	0	1	0	0	0	14979	477	17	3	5960	3	SORL1	11	121490527	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	21548076	121490527	13515989	75	11421											
OR10S1	219873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	123848074	123848074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagctgtacggcacagccctCaaaggagatcaccttcccat	8	14	2	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr11:123848074C>G	ENST00000531945.1	-	1	414	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCACAGCCCTCAAAGGAGATC	0.547																																					p.E109Q		.											.	OR10S1-70	0			c.G325C						.						90	70	77					11																	123848074		2202	4299	6501	SO:0001583	missense	219873	exon1			AGCCCTCAAAGGA	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.325G>C	11.37:g.123848074C>G	ENSP00000431914:p.Glu109Gln	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	103	12	NM_001004474	0	0	0	0	0	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	1.115	-0.657117	0.03480	.	.	ENSG00000196248	ENST00000531945	T	0.00402	7.56	4.53	0.263	0.15602	GPCR, rhodopsin-like superfamily (1);	1.503160	0.04716	N	0.418539	T	0.00241	0.0007	N	0.16708	0.43	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	10	0.10377	T	0.69	-2.4621	7.4888	0.27449	0.0:0.3423:0.4905:0.1672	.	109	Q8NGN2	O10S1_HUMAN	Q	109	ENSP00000431914:E109Q	ENSP00000431914:E109Q	E	-	1	0	OR10S1	123353284	0.000000	0.05858	0.040000	0.18447	0.923000	0.55619	-3.059000	0.00624	-0.091000	0.12440	0.573000	0.79308	GAG	.		0.547	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		G	123848074	C	G	123848074	3	3	53	1	0	0	0	0	1	0	0	0	10957	835	29	3	674	3	OR10S1	11	123848074	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	2357547	123848074	11158442	76	11422											
ABCD2	225	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	40012643	40012643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacaccacaagtcctgctaGtagggtgggcccaattgggc	12	11	0	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr12:40012643G>T	ENST00000308666.3	-	1	910	c.775C>A	c.(775-777)Cta>Ata	p.L259I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	259	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGTCCTGCTAGTAGGGTGGGC	0.448																																					p.L259I		.											.	ABCD2-95	0			c.C775A						.						117	115	115					12																	40012643		2203	4300	6503	SO:0001583	missense	225	exon1			CTGCTAGTAGGGT	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.775C>A	12.37:g.40012643G>T	ENSP00000310688:p.Leu259Ile	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	259	85	NM_005164	0	0	0	0	0	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	0.570	-0.841375	0.02692	.	.	ENSG00000173208	ENST00000308666	D	0.91237	-2.81	5.51	-2.96	0.05547	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.64402	D	0.000002	T	0.79986	0.4541	N	0.05414	-0.055	0.24864	N	0.992321	B	0.30526	0.283	B	0.38225	0.268	T	0.68682	-0.5344	9	.	.	.	-24.6613	14.1325	0.65263	0.2339:0.0:0.7661:0.0	.	259	Q9UBJ2	ABCD2_HUMAN	I	259	ENSP00000310688:L259I	.	L	-	1	2	ABCD2	38298910	0.531000	0.26338	0.259000	0.24435	0.880000	0.50808	0.773000	0.26661	-0.430000	0.07318	-1.193000	0.01689	CTA	.		0.448	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		T	40012643	G	T	40012643	3	4	53	1	0	0	0	0	1	0	0	0	61	1020	36	3	1487	3	ABCD2	12	40012643	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		40012643	93839252	77	11423											
NDUFA12	55967	bcgsc.ca	37	chr12	95387985	95387985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatccacatcccagaatGtgtttttgccattcatttca	4	12	2	1	rs199506466		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr12:95387985G>T	ENST00000327772.2	-	3	307	c.218C>A	c.(217-219)aCa>aAa	p.T73K	NDUFA12_ENST00000547986.1_Intron|NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000550187.1_5'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	73					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						ATCCCAGAATGTGTTTTTGCC	0.368																																					p.T73K		.											.	NDUFA12-90	0			c.C218A						.						126	112	117					12																	95387985		2203	4300	6503	SO:0001583	missense	55967	exon3			CAGAATGTGTTTT	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"Mitochondrial respiratory chain complex / Complex I"	23987	protein-coding gene	gene with protein product	"complex I B17.2 subunit"	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.218C>A	12.37:g.95387985G>T	ENSP00000330737:p.Thr73Lys	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_018838	0	0	160	160	0	F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274570	0.40194	.	.	ENSG00000184752	ENST00000327772	T	0.42131	0.98	5.37	4.47	0.54385	.	0.089324	0.85682	D	0.000000	T	0.60508	0.2274	M	0.71581	2.175	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	T	0.60115	-0.7326	10	0.30854	T	0.27	-11.7968	15.3884	0.74723	0.0:0.1402:0.8598:0.0	.	73	Q9UI09	NDUAC_HUMAN	K	73	ENSP00000330737:T73K	ENSP00000330737:T73K	T	-	2	0	NDUFA12	93912116	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	8.350000	0.90069	1.379000	0.46325	-0.314000	0.08810	ACA	G|1.000;A|0.000		0.368	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		T	95387985	G	T	95387985	3	4	53	1	0	0	0	0	1	0	0	0	10301	1377	48	3	227	3	NDUFA12	12	95387985	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	55375342	95387985	38463910	78	11424											
FAM109A	144717	hgsc.bcm.edu	37	chr12	111800603	111800603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggggtgccgaggcccggCggcgaggcggtggtggaggg	25	9	0	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr12:111800603C>T	ENST00000547838.2	-	2	726	c.629G>A	c.(628-630)cGc>cAc	p.R210H	FAM109A_ENST00000450786.2_Missense_Mutation_p.A191T|FAM109A_ENST00000361483.3_Missense_Mutation_p.R223H|FAM109A_ENST00000548163.1_Missense_Mutation_p.R210H|FAM109A_ENST00000392658.5_Missense_Mutation_p.R210H			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	210	Pro-rich.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CGAGGCCCGGCGGCGAGGCGG	0.736																																					p.R223H		.											.	FAM109A-90	0			c.G668A						.						5	3	4					12																	111800603		1529	2980	4509	SO:0001583	missense	144717	exon4			GCCCGGCGGCGAG	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.629G>A	12.37:g.111800603C>T	ENSP00000447353:p.Arg210His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	13	NM_001177996	0	0	2	2	0	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP	ENST00000547838.2	37	CCDS9152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109703|4.109703	0.77096|0.77096	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000450786|ENST00000547838;ENST00000361483;ENST00000392658;ENST00000548163	.|T;T;T;T	.|0.40225	.|1.07;1.04;1.07;1.07	4.14|4.14	3.23|3.23	0.37069|0.37069	.|.	.|.	.|.	.|.	.|.	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.46157|0.46157	1.445|1.445	0.34173|0.34173	D|D	0.670073|0.670073	D|D;D	0.56521|0.67145	0.976|0.996;0.996	B|P;P	0.40477|0.50192	0.33|0.634;0.634	T|T	0.54768|0.54768	-0.8244|-0.8244	8|9	0.87932|0.39692	D|T	0|0.17	.|.	10.4944|10.4944	0.44768|0.44768	0.0:0.9065:0.0:0.0935|0.0:0.9065:0.0:0.0935	.|.	191|210;207	G3V0F1|Q8N4B1;B4DRN3	.|SESQ1_HUMAN;.	T|H	191|210;223;210;210	.|ENSP00000447353:R210H;ENSP00000354461:R223H;ENSP00000376426:R210H;ENSP00000449994:R210H	ENSP00000390552:A191T|ENSP00000354461:R223H	A|R	-|-	1|2	0|0	FAM109A|FAM109A	110284986|110284986	0.000000|0.000000	0.05858|0.05858	0.767000|0.767000	0.31495|0.31495	0.285000|0.285000	0.27093|0.27093	0.730000|0.730000	0.26043|0.26043	0.709000|0.709000	0.31976|0.31976	0.561000|0.561000	0.74099|0.74099	GCC|CGC	.		0.736	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		T	111800603	C	T	111800603	3	4	53	1	0	0	0	0	1	0	0	0	5413	768	27	1	124	1	FAM109A	12	111800603	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	16412618	111800603	22051292	79	11425											
TRAFD1	10906	bcgsc.ca	37	chr12	112590550	112590550	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcaccaggcaaagccttcCaagcaacagggagctgggga	13	11	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr12:112590550C>G	ENST00000257604.5	+	12	2321	c.1704C>G	c.(1702-1704)tcC>tcG	p.S568S	TRAFD1_ENST00000412615.2_Silent_p.S568S	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	568					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						CAAAGCCTTCCAAGCAACAGG	0.493																																					p.S568S		.											.	TRAFD1-90	0			c.C1704G						.						145	135	138					12																	112590550		2203	4300	6503	SO:0001819	synonymous_variant	10906	exon12			GCCTTCCAAGCAA	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.1704C>G	12.37:g.112590550C>G		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_001143906	0	0	0	0	0	A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																			.		0.493	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		G	112590550	C	G	112590550	2	3	53	1	0	0	0	0	0	0	0	1	16495	581	21	3		3	TRAFD1	12	112590550	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	789947	112590550	21261345	80	11426											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000536002.1_Silent_p.P565P|RIMBP2_ENST00000535703.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	34	14	NM_015347	0	0	1	1	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	53	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	18330921	130921471	2930424	81	11427											
TMCO3	55002	bcgsc.ca	37	chr13	114156093	114156093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaccataggaatgctgtcCttgccttgtggctggctatg	12	9	0	0	rs2260080	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr13:114156093C>T	ENST00000434316.2	+	5	1202	c.843C>T	c.(841-843)tcC>tcT	p.S281S	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.S281S	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	281						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.S281S(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAATGCTGTCCTTGCCTTGTG	0.408													.|||	1207	0.241014	0.4107	0.147	5008	,	,		22189	0.2708		0.1581	False		,,,				2504	0.1329				p.S281S		.											.	TMCO3-90	1	Substitution - coding silent(1)	stomach(1)	c.C843T						.	C		1535,2871	486.2+/-360.5	264,1007,932	167	164	165		843	-3.1	0.1	13	dbSNP_100	165	1275,7325	252.3+/-278.5	90,1095,3115	no	coding-synonymous	TMCO3	NM_017905.4		354,2102,4047	TT,TC,CC		14.8256,34.8389,21.6054		281/678	114156093	2810,10196	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon5			GCTGTCCTTGCCT	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.843C>T	13.37:g.114156093C>T		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	74	5	NM_017905	0	0	1	1	0	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.772;T|0.228		0.408	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		T	114156093	C	T	114156093	2	4	53	1	0	0	0	0	0	0	0	1	16044	668	24	3		3	TMCO3	13	114156093	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		114156093	1013785	82	11428											
ACIN1	22985	hgsc.bcm.edu	37	chr14	23548793	23548793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgaacgagaacgtgaaCgtgaccttgatctggactct	11	9	2	5	rs80007670	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr14:23548793C>T	ENST00000262710.1	-	6	2252	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	ACIN1_ENST00000457657.1_Missense_Mutation_p.R602H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R584H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.R642H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	642	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAACGTGAACGTGACCTTGA	0.478																																					p.R642H		.											.	ACIN1-156	0			c.G1925A						.	C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	6.2+/-15.9	0,6,2197	258	226	237		1925,1805,1925	3.2	0.8	14	dbSNP_131	237	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	ACIN1	NM_001164814.1,NM_001164815.1,NM_014977.3	29,29,29	0,30,6473	TT,TC,CC		0.2791,0.1362,0.2307	probably-damaging,probably-damaging,probably-damaging	642/1329,602/1302,642/1342	23548793	30,12976	2203	4300	6503	SO:0001583	missense	22985	exon6			CGTGAACGTGACC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1925G>A	14.37:g.23548793C>T	ENSP00000262710:p.Arg642His	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	148	8	NM_001164814	0	0	0	0	0	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	9	0.004120879120879121	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	4	0.005277044854881266	C	14.59	2.580077	0.46006	0.001362	0.002791	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.39;1.55;2.39	5.05	3.18	0.36537	.	0.000000	0.40144	N	0.001165	T	0.20170	0.0485	L	0.27053	0.805	0.26413	N	0.976231	D;D;D	0.67145	0.992;0.986;0.996	P;P;P	0.51582	0.674;0.475;0.572	T	0.04440	-1.0951	10	0.59425	D	0.04	-4.3727	7.238	0.26079	0.0:0.7908:0.0:0.2092	.	642;642;602	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	642;602;642	ENSP00000262710:R642H;ENSP00000405677:R602H;ENSP00000451328:R642H	ENSP00000262710:R642H	R	-	2	0	ACIN1	22618633	0.984000	0.35163	0.847000	0.33407	0.542000	0.35054	0.703000	0.25646	0.669000	0.31146	-0.216000	0.12614	CGT	C|0.994;T|0.006		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23548793	C	T	23548793	3	4	53	1	0	0	0	0	1	0	0	0	142	536	19	1	2303	1	ACIN1	14	23548793	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		23548793	83800747	83	11429											
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	33149251	33149251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctagtttgtccttgaaaGgctggagatactcctttggg	11	9	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr15:33149251G>T	ENST00000559047.1	-	14	3892	c.3893C>A	c.(3892-3894)cCt>cAt	p.P1298H	FMN1_ENST00000334528.9_Missense_Mutation_p.P1075H|FMN1_ENST00000561249.1_Missense_Mutation_p.P1200H			Q68DA7	FMN1_HUMAN	formin 1	1298	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)		GTCCTTGAAAGGCTGGAGATA	0.443																																					p.P1075H		.											.	FMN1-23	0			c.C3224A						.						125	127	126					15																	33149251		1943	4131	6074	SO:0001583	missense	342184	exon13			TTGAAAGGCTGGA	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.3893C>A	15.37:g.33149251G>T	ENSP00000454047:p.Pro1298His	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	79	15	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	G	18.85	3.712299	0.68730	.	.	ENSG00000248905	ENST00000334528	T	0.17691	2.26	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.87547	2.89	0.19775	N	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.60347	-0.7281	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1075	Q68DA7-5	.	H	1075	ENSP00000333950:P1075H	ENSP00000333950:P1075H	P	-	2	0	FMN1	30936543	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	CCT	.		0.443	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33149251	G	T	33149251	3	4	53	1	0	0	0	0	1	0	0	0	5971	1000	35	3	386	3	FMN1	15	33149251	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10		33149251	69382141	84	11430											
ADAMTS7	11173	ucsc.edu	37	chr15	79089111	79089111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaacgctcccgtcgagActccagctctgggtacactg	9	17	1	1	rs3825807	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr15:79089111A>G	ENST00000388820.4	-	4	850	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	214			S -> P (in dbSNP:rs3825807).		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						tcccgtcgAGACTCCAGCTCT	0.657													G|||	1253	0.2502	0.1112	0.2968	5008	,	,		14046	0.1518		0.4274	False		,,,				2504	0.3241				p.S214P		.											.	ADAMTS7-226	0			c.T640C						.	G	PRO/SER	678,3714		57,564,1575	22	21	22	http://www.ncbi.nlm.nih.gov/pubmed?term	640	-9	0	15	dbSNP_107	22	3816,4762		878,2060,1351	yes	missense	ADAMTS7	NM_014272.3	74	935,2624,2926	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	44.4859,15.4372,34.6492	benign	214/1687	79089111	4494,8476	2196	4289	6485	SO:0001583	missense	11173	exon4			GTCGAGACTCCAG	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.640T>C	15.37:g.79089111A>G	ENSP00000373472:p.Ser214Pro	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	34	8	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	584	0.2673992673992674	63	0.12804878048780488	123	0.3397790055248619	77	0.1346153846153846	321	0.4234828496042216	G	12.54	1.968180	0.34754	0.154372	0.444859	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60920	0.15	5.11	-8.98	0.00754	.	0.967066	0.08499	N	0.936716	T	0.00012	0.0000	N	0.00436	-1.5	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.40384	-0.9566	9	0.30078	T	0.28	.	2.7518	0.05283	0.5523:0.0989:0.1616:0.1872	rs3825807;rs57075956;rs3825807	214;214;214	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	P	214	ENSP00000373472:S214P	ENSP00000373472:S214P	S	-	1	0	ADAMTS7	76876166	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.471000	0.02344	-1.596000	0.01611	-1.382000	0.01172	TCT	A|0.704;G|0.296		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79089111	A	G	79089111	3	3	53	1	0	0	0	0	1	0	0	0	271	275	10	4	4504	4	ADAMTS7	15	79089111	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	45939860	79089111	23442281	85	11431											
SLC28A1	9154	bcgsc.ca	37	chr15	85432030	85432030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagctccctaggagtgacTtgagccccgcagagatcagg	13	13	1	3	rs17222302	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr15:85432030T>C	ENST00000286749.3	+	3	214	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	SLC28A1_ENST00000538177.1_Silent_p.L42L|SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000394573.1_Silent_p.L42L|SLC28A1_ENST00000537624.1_Silent_p.L42L|SLC28A1_ENST00000338602.2_Silent_p.L42L|SLC28A1_ENST00000537216.1_Silent_p.L42L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	42					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TAGGAGTGACTTGAGCCCCGC	0.667													T|||	37	0.00738818	0.0045	0.0115	5008	,	,		16707	0.0079		0.0149	False		,,,				2504	0				p.L42L		.											.	SLC28A1-93	0			c.T124C						.	T	,	17,4293		0,17,2138	20	19	19		124,124	-0.2	0	15	dbSNP_126	19	81,8365		0,81,4142	no	coding-synonymous,coding-synonymous	SLC28A1	NM_004213.3,NM_201651.1	,	0,98,6280	CC,CT,TT		0.959,0.3944,0.7683	,	42/650,42/176	85432030	98,12658	2155	4223	6378	SO:0001819	synonymous_variant	9154	exon4			AGTGACTTGAGCC	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.124T>C	15.37:g.85432030T>C		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	75	4	NM_201651	0	0	0	0	0	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																			T|0.991;C|0.009		0.667	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			C	85432030	T	C	85432030	2	2	53	1	0	0	0	0	0	0	0	1	14576	1606	56	4		4	SLC28A1	15	85432030	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	6342919	85432030	17099362	86	11432											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000562103.1_5'UTR|ZNF598_ENST00000563630.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	53	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10		2059674	88295079	87	11433											
MYLK3	91807	broad.mit.edu	37	chr16	46744683	46744683	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgtttcccctagaaaTggggacaagccactgagtct	10	11	2	2	rs200273306		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:46744683T>G	ENST00000394809.4	-	11	2248	c.2133A>C	c.(2131-2133)ccA>ccC	p.P711P	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Silent_p.P370P	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	711	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCCCTAGAAATGGGGACAAGC	0.473																																					p.P711P		.											.	MYLK3-374	0			c.A2133C						.						81	90	87					16																	46744683		2203	4300	6503	SO:0001819	synonymous_variant	91807	exon11			TAGAAATGGGGAC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2133A>C	16.37:g.46744683T>G		Somatic	73	8		WXS	Illumina GAIIx	Phase_I	58	9	NM_182493	0	0	0	0	0	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	CCDS10723.2																																																																																			T|0.996;G|0.004		0.473	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		G	46744683	T	G	46744683	2	3	53	1	0	0	0	0	0	0	0	1	10096	1451	51	5		5	MYLK3	16	46744683	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	44685009	46744683	43610070	88	11434											
WWP2	11060	bcgsc.ca	37	chr16	69963355	69963355	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttctcatgtggcagagaaGagacaggacaatggacgggt	14	7	2	2	rs1566452	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:69963355G>A	ENST00000359154.2	+	12	1340	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.K413K|WWP2_ENST00000356003.2_Silent_p.K413K|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000542271.1_Silent_p.K297K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	413	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCAGAGAAGAGACAGGACA	0.557													G|||	4282	0.855032	0.9455	0.7493	5008	,	,		17978	0.9683		0.7535	False		,,,				2504	0.7955				p.K413K		.											.	WWP2-658	0			c.G1239A						.	G	,	3933,463	777.5+/-414.2	1759,415,24	51	47	49		1239,	4.3	1	16	dbSNP_88	49	6376,2224	703.7+/-405.4	2379,1618,303	no	coding-synonymous,utr-5	WWP2	NM_007014.3,NM_199424.1	,	4138,2033,327	AA,AG,GG		25.8605,10.5323,20.6756	,	413/871,	69963355	10309,2687	2198	4300	6498	SO:0001819	synonymous_variant	11060	exon12			AGAGAAGAGACAG	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1239G>A	16.37:g.69963355G>A		Somatic	265	1		WXS	Illumina GAIIx	Phase_I	224	8	NM_001270454	0	0	1	1	0	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																			A|0.812;C|0.000		0.557	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		A	69963355	G	A	69963355	2	1	53	1	0	0	0	0	0	0	0	1	17465	933	33	3		3	WWP2	16	69963355	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	23218672	69963355	20391398	89	11435											
MTSS1L	92154	hgsc.bcm.edu	37	chr16	70698094	70698094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggccagcgctggacaggGcgcggcgcacggtgggcttg	21	11	0	0	rs77173170	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:70698094G>A	ENST00000338779.6	-	15	2004	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	577					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCTGGACAGGGCGCGGCGCAC	0.766													G|||	25	0.00499201	0	0.0029	5008	,	,		10718	0		0.0099	False		,,,				2504	0.0133				p.A577V		.											.	MTSS1L-68	0			c.C1730T						.	G	VAL/ALA	16,4360		0,16,2172	16	17	17		1730	4.4	1	16	dbSNP_131	17	89,8459		1,87,4186	no	missense	MTSS1L	NM_138383.2	64	1,103,6358	AA,AG,GG		1.0412,0.3656,0.8124	benign	577/748	70698094	105,12819	2188	4274	6462	SO:0001583	missense	92154	exon15			GACAGGGCGCGGC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1730C>T	16.37:g.70698094G>A	ENSP00000341171:p.Ala577Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_138383	0	0	0	7	7	A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	CCDS32476.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	21.1	4.104706	0.77096	0.003656	0.010412	ENSG00000132613	ENST00000338779	T	0.31247	1.5	4.38	4.38	0.52667	.	0.173169	0.50627	D	0.000114	T	0.21468	0.0517	L	0.36672	1.1	0.43531	D	0.99581	B	0.22683	0.073	B	0.26094	0.066	T	0.07712	-1.0758	10	0.51188	T	0.08	-14.3388	16.5688	0.84606	0.0:0.0:1.0:0.0	.	577	Q765P7	MTSSL_HUMAN	V	577	ENSP00000341171:A577V	ENSP00000341171:A577V	A	-	2	0	MTSS1L	69255595	0.769000	0.28531	0.961000	0.40146	0.985000	0.73830	3.986000	0.56937	1.964000	0.57103	0.462000	0.41574	GCC	G|0.995;A|0.005		0.766	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		A	70698094	G	A	70698094	3	1	53	1	0	0	0	0	1	0	0	0	10001	1203	42	3	517	3	MTSS1L	16	70698094	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	734739	70698094	19656659	90	11436											
PLCG2	5336	bcgsc.ca	37	chr16	81929527	81929527	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagaccacgcctttgttacCtcgaggtcagttggctgatt	10	10	1	2	rs13333716	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:81929527C>G	ENST00000359376.3	+	13	1402	c.1188C>G	c.(1186-1188)acC>acG	p.T396T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	396	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTTTGTTACCTCGAGGTCAG	0.547													C|||	224	0.0447284	0.0749	0.0403	5008	,	,		19718	0.002		0.0696	False		,,,				2504	0.0256				p.T396T		.											.	PLCG2-892	0			c.C1188G						.	C		300,3886		11,278,1804	170	180	177		1188	3	1	16	dbSNP_121	177	619,7837		19,581,3628	no	coding-synonymous	PLCG2	NM_002661.3		30,859,5432	GG,GC,CC		7.3202,7.1667,7.2694		396/1266	81929527	919,11723	2093	4228	6321	SO:0001819	synonymous_variant	5336	exon13			TGTTACCTCGAGG		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1188C>G	16.37:g.81929527C>G		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	137	5	NM_002661	0	0	0	0	0	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																			C|0.936;G|0.064		0.547	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			G	81929527	C	G	81929527	2	3	53	1	0	0	0	0	0	0	0	1	12075	668	24	3		3	PLCG2	16	81929527	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	11231433	81929527	8425226	91	11437											
LRRC50	123872	bcgsc.ca	37	chr16	84203612	84203612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagctctgcccggaaaAgccaagtggagaggagccgc	16	11	1	1	rs17856705	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:84203612A>G	ENST00000378553.5	+	8	1302	c.1178A>G	c.(1177-1179)aAg>aGg	p.K393R	DNAAF1_ENST00000334315.5_Missense_Mutation_p.K393R|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	393	Pro-rich.		K -> R (in dbSNP:rs17856705). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.K393R(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCCCGGAAAAGCCAAGTGGA	0.577													A|||	1608	0.321086	0.1853	0.4063	5008	,	,		18118	0.3403		0.4473	False		,,,				2504	0.2945				p.K393R		.											.	DNAAF1-73	1	Substitution - Missense(1)	stomach(1)	c.A1178G						.	A	ARG/LYS	991,3409	369.1+/-318.9	105,781,1314	61	67	65		1178	0.1	0	16	dbSNP_123	65	3932,4666	546.9+/-385.1	897,2138,1264	yes	missense	DNAAF1	NM_178452.4	26	1002,2919,2578	GG,GA,AA		45.7316,22.5227,37.8751	benign	393/726	84203612	4923,8075	2200	4299	6499	SO:0001583	missense	123872	exon8			CGGAAAAGCCAAG	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1178A>G	16.37:g.84203612A>G	ENSP00000367815:p.Lys393Arg	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	113	5	NM_178452	0	0	0	0	0	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	795	0.364010989010989	99	0.20121951219512196	145	0.4005524861878453	209	0.36538461538461536	342	0.45118733509234826	A	9.460	1.092818	0.20471	0.225227	0.457316	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.34472	1.36;1.78	5.18	0.133	0.14766	.	1.732920	0.03435	N	0.208365	T	0.00012	0.0000	L	0.51422	1.61	0.80722	P	0.0	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.44682	-0.9312	9	0.18710	T	0.47	-2.2671	1.0174	0.01510	0.5219:0.1476:0.1697:0.1609	rs17856705;rs17856705	157;393	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	R	393	ENSP00000334593:K393R;ENSP00000367815:K393R	ENSP00000334593:K393R	K	+	2	0	DNAAF1	82761113	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.630000	0.24553	-0.189000	0.10482	-1.652000	0.00757	AAG	A|0.639;G|0.361		0.577	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		G	84203612	A	G	84203612	3	3	53	1	0	0	0	0	1	0	0	0	9044	72	3	4	1208	4	LRRC50	16	84203612	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	2274085	84203612	6151141	92	11438											
JPH3	57338	hgsc.bcm.edu	37	chr16	87678021	87678021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggcgctgcatcccgaCgcctctccggcggtggccgg	16	17	1	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr16:87678021C>T	ENST00000284262.2	+	2	782	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	180					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697																																					p.D180D		.											.	JPH3-92	0			c.C540T						.						39	42	41					16																	87678021		2194	4296	6490	SO:0001819	synonymous_variant	57338	exon2			TCCCGACGCCTCT	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.540C>T	16.37:g.87678021C>T		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	46	10	NM_020655	0	0	0	0	0	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	CCDS10962.1																																																																																			.		0.697	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			T	87678021	C	T	87678021	2	4	53	1	0	0	0	0	0	0	0	1	7989	535	19	1		1	JPH3	16	87678021	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	3474409	87678021	2676732	93	11439											
MPRIP	23164	hgsc.bcm.edu	37	chr17	17062002	17062002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgccctgaggcggagCctggggagctggagcgggag	20	12	0	1	rs190974068	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr17:17062002C>T	ENST00000341712.4	+	14	1732	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	MPRIP_ENST00000444976.1_Missense_Mutation_p.P540S|MPRIP_ENST00000395804.3_Missense_Mutation_p.P578S|MPRIP_ENST00000395811.5_Missense_Mutation_p.P578S			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	578	Interaction with RHOA.			P -> S (in Ref. 1; AAQ63176). {ECO:0000305}.		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						TGAGGCGGAGCCTGGGGAGCT	0.731													C|||	2	0.000399361	0	0	5008	,	,		14407	0		0	False		,,,				2504	0.002				p.P578S		.											.	MPRIP-90	0			c.C1732T						.	C	SER/PRO,SER/PRO	1,4337		0,1,2168	10	12	12		1732,1732	0.7	0	17		12	15,8431		0,15,4208	no	missense,missense	MPRIP	NM_015134.3,NM_201274.3	74,74	0,16,6376	TT,TC,CC		0.1776,0.0231,0.1252	,	578/1039,578/1026	17062002	16,12768	2169	4223	6392	SO:0001583	missense	23164	exon14			GCGGAGCCTGGGG	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.1732C>T	17.37:g.17062002C>T	ENSP00000342379:p.Pro578Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	6	NM_015134	0	0	4	4	0	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.418	-0.573734	0.03882	2.31E-4	0.001776	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.22945	1.93;2.25;2.26;2.26	5.45	0.739	0.18324	.	.	.	.	.	T	0.17152	0.0412	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.33292	-0.9874	9	0.19590	T	0.45	.	5.8487	0.18681	0.0:0.5417:0.1339:0.3244	.	578;578	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	S	540;578;578;578	ENSP00000400189:P540S;ENSP00000379156:P578S;ENSP00000379149:P578S;ENSP00000342379:P578S	ENSP00000342379:P578S	P	+	1	0	MPRIP	17002727	0.000000	0.05858	0.007000	0.13788	0.552000	0.35366	-0.642000	0.05427	-0.068000	0.12953	0.456000	0.33151	CCT	C|0.999;T|0.000		0.731	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		T	17062002	C	T	17062002	3	4	53	1	0	0	0	0	1	0	0	0	9781	739	26	3	1786	3	MPRIP	17	17062002	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		17062002	64133208	94	11440											
SLC47A2	146802	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	19582079	19582079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagcagccccacggcGgatgaccagctgtttcactg	11	16	1	2	rs201004962		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr17:19582079G>A	ENST00000325411.5	-	17	1779	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	SLC47A2_ENST00000350657.5_Missense_Mutation_p.R555C|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	577					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)	GCCCCACGGCGGATGACCAGC	0.587																																					p.R577C		.											.	SLC47A2-90	0			c.C1729T						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	54	51	52		1621,1729	2	0	17		52	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SLC47A2	NM_001099646.1,NM_152908.3	180,180	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	541/567,577/603	19582079	4,13002	2203	4300	6503	SO:0001583	missense	146802	exon17			CACGGCGGATGAC	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.1729C>T	17.37:g.19582079G>A	ENSP00000326671:p.Arg577Cys	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	132	8	NM_152908	0	0	0	0	0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872148	0.51695	2.27E-4	3.49E-4	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.37058	1.27;1.22	5.16	2.01	0.26516	.	0.064473	0.64402	N	0.000008	T	0.46288	0.1385	L	0.52126	1.63	0.22034	N	0.999407	D;D;D	0.89917	0.974;0.994;1.0	P;P;D	0.83275	0.89;0.724;0.996	T	0.28004	-1.0057	10	0.87932	D	0	-12.9926	4.1946	0.10437	0.2551:0.0:0.583:0.162	.	541;555;577	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	C	555;577	ENSP00000338084:R555C;ENSP00000326671:R577C	ENSP00000326671:R577C	R	-	1	0	SLC47A2	19522671	1.000000	0.71417	0.004000	0.12327	0.648000	0.38561	4.047000	0.57383	0.177000	0.19895	-0.471000	0.05019	CGC	.		0.587	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		A	19582079	G	A	19582079	3	1	53	1	0	0	0	0	1	0	0	0	14693	1116	39	1	83	1	SLC47A2	17	19582079	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	2520077	19582079	61613131	95	11441											
ENPP7	339221	bcgsc.ca	37	chr17	77709339	77709339	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaaggtgtacgatgcCctcaaggacgcccaccccaa	11	14	1	1	rs11657217	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr17:77709339C>G	ENST00000328313.5	+	3	1118	c.897C>G	c.(895-897)gcC>gcG	p.A299A		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTACGATGCCCTCAAGGACG	0.592													G|||	1599	0.319289	0.4864	0.2435	5008	,	,		5034	0.1101		0.2942	False		,,,				2504	0.3885				p.A299A		.											.	ENPP7-92	0			c.C897G						.	G		2062,2344	607.3+/-390.9	479,1104,620	94	76	82		897	-0.9	0	17	dbSNP_120	82	2625,5975	686.6+/-404.1	414,1797,2089	no	coding-synonymous	ENPP7	NM_178543.3		893,2901,2709	GG,GC,CC		30.5233,46.7998,36.0372		299/459	77709339	4687,8319	2203	4300	6503	SO:0001819	synonymous_variant	339221	exon3			CGATGCCCTCAAG	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.897C>G	17.37:g.77709339C>G		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	128	5	NM_178543	0	0	0	0	0		Silent	SNP	ENST00000328313.5	37	CCDS11763.1																																																																																			C|0.673;G|0.327		0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		G	77709339	C	G	77709339	2	3	53	1	0	0	0	0	0	0	0	1	5151	610	22	3		3	ENPP7	17	77709339	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	58127260	77709339	3485871	96	11442											
C17orf101	79701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	80361861	80361861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcgccgtccgcgcttcCgtgctgtttatgcgggagaa	14	12	0	1	rs200973304		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr17:80361861C>T	ENST00000313056.5	-	7	802	c.651G>A	c.(649-651)acG>acA	p.T217T	OGFOD3_ENST00000329197.5_Silent_p.T217T|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	217	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TCCGCGCTTCCGTGCTGTTTA	0.637													C|||	1	0.000199681	0	0	5008	,	,		18921	0		0.001	False		,,,				2504	0				p.T217T		.											.	.	0			c.G651A						.						98	74	82					17																	80361861		2203	4299	6502	SO:0001819	synonymous_variant	79701	exon7			CGCTTCCGTGCTG	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.651G>A	17.37:g.80361861C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	105	8	NM_175902	0	0	32	42	10	C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																			C|0.999;T|0.000		0.637	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		T	80361861	C	T	80361861	2	4	53	1	0	0	0	0	0	0	0	1	1853	639	23	1		1	C17orf101	17	80361861	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	2652522	80361861	833349	97	11443											
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	7013829	7013829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataccttgcaagggcaggcCccggtttcctccacacagcc	9	16	0	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr18:7013829C>T	ENST00000389658.3	-	23	3441	c.3348G>A	c.(3346-3348)ggG>ggA	p.G1116G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1116	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGGGCAGGCCCCGGTTTCCT	0.577																																					p.G1116G		.											.	LAMA1-149	0			c.G3348A						.						63	66	65					18																	7013829		2203	4300	6503	SO:0001819	synonymous_variant	284217	exon23			GCAGGCCCCGGTT	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.3348G>A	18.37:g.7013829C>T		Somatic	214	0		WXS	Illumina GAIIx	Phase_I	174	13	NM_005559	0	0	0	0	0		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																			.		0.577	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7013829	C	T	7013829	2	4	53	1	0	0	0	0	0	0	0	1	8633	610	22	3		3	LAMA1	18	7013829	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		7013829	71063419	98	11444											
RAX	30062	hgsc.bcm.edu	37	chr18	56940307	56940307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgccgaggatcccgtcGtccttggtaaaccccaggat	12	12	0	0	rs2271733	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr18:56940307G>T	ENST00000334889.3	-	1	318	c.132C>A	c.(130-132)gaC>gaA	p.D44E	RAX_ENST00000256852.7_Missense_Mutation_p.D44E	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	44			D -> E (in dbSNP:rs2271733). {ECO:0000269|PubMed:14662654}.		camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGATCCCGTCGTCCTTGGTAA	0.746													G|||	980	0.195687	0.1452	0.1571	5008	,	,		10556	0.128		0.3002	False		,,,				2504	0.2536				p.D44E	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.C132A						.	G	GLU/ASP	490,2640		39,412,1114	11	9	10		132	0.1	1	18	dbSNP_100	10	1484,4096		212,1060,1518	yes	missense	RAX	NM_013435.2	45	251,1472,2632	TT,TG,GG		26.595,15.655,22.6636	benign	44/347	56940307	1974,6736	1565	2790	4355	SO:0001583	missense	30062	exon1			CCCGTCGTCCTTG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.132C>A	18.37:g.56940307G>T	ENSP00000334813:p.Asp44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_013435	0	0	0	0	0	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	CCDS11972.1	453	0.20741758241758243	75	0.1524390243902439	69	0.19060773480662985	76	0.13286713286713286	233	0.3073878627968338	G	12.43	1.936984	0.34189	0.15655	0.26595	ENSG00000134438	ENST00000256852;ENST00000334889;ENST00000555288	T;D;T	0.87966	0.09;-2.32;0.09	5.56	0.117	0.14652	.	0.213892	0.50627	N	0.000107	T	0.00012	0.0000	N	0.12182	0.205	0.42455	P	0.0072349999999999914	B;B	0.22800	0.075;0.004	B;B	0.23574	0.047;0.009	T	0.06481	-1.0824	9	0.06365	T	0.9	.	0.4639	0.00520	0.2353:0.2064:0.3162:0.2421	rs2271733;rs58469971;rs2271733	44;44	Q86V11;Q9Y2V3	.;RX_HUMAN	E	44	ENSP00000256852:D44E;ENSP00000334813:D44E;ENSP00000450583:D44E	ENSP00000256852:D44E	D	-	3	2	RAX	55091287	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	-0.819000	0.04462	0.271000	0.22005	0.561000	0.74099	GAC	G|0.801;T|0.199		0.746	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			T	56940307	G	T	56940307	3	4	53	1	0	0	0	0	1	0	0	0	13141	1136	40	2	920	2	RAX	18	56940307	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	49926478	56940307	21136941	99	11445											
CNDP2	55748	bcgsc.ca	37	chr18	72178161	72178161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaggatgtggactaTgtctgcatttctgacaatta	8	6	3	1	rs2278159	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr18:72178161T>C	ENST00000324262.4	+	6	886	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CNDP2_ENST00000579847.1_Silent_p.Y190Y|CNDP2_ENST00000324301.8_Silent_p.Y106Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	190					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.Y190Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGTGGACTATGTCTGCATTT	0.507													T|||	1013	0.202276	0.0779	0.3026	5008	,	,		23053	0.2986		0.162	False		,,,				2504	0.2413				p.Y190Y		.											.	CNDP2-93	1	Substitution - coding silent(1)	stomach(1)	c.T570C						.	T	,	493,3913	230.4+/-244.6	34,425,1744	146	127	134		318,570	1.8	0.9	18	dbSNP_100	134	1634,6966	303.4+/-306.4	133,1368,2799	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	167,1793,4543	CC,CT,TT		19.0,11.1893,16.354	,	106/392,190/476	72178161	2127,10879	2203	4300	6503	SO:0001819	synonymous_variant	55748	exon6			GGACTATGTCTGC	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.570T>C	18.37:g.72178161T>C		Somatic	225	1		WXS	Illumina GAIIx	Phase_I	195	8	NM_018235	0	0	6	6	0	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	CCDS12006.1																																																																																			T|0.825;C|0.175		0.507	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		C	72178161	T	C	72178161	2	2	53	1	0	0	0	0	0	0	0	1	3601	1471	51	4		4	CNDP2	18	72178161	Silent	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	15237854	72178161	5899087	100	11446											
CNDP1	84735	bcgsc.ca	37	chr18	72234635	72234635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagccagcaatcacttaCggaacccgggggaacagcta	12	11	1	0	rs12960862	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr18:72234635C>T	ENST00000358821.3	+	6	951	c.723C>T	c.(721-723)taC>taT	p.Y241Y	CNDP1_ENST00000582365.1_Silent_p.Y198Y	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	241						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)		CAATCACTTACGGAACCCGGG	0.493													C|||	2276	0.454473	0.2852	0.4856	5008	,	,		17870	0.4008		0.671	False		,,,				2504	0.4939				p.Y241Y	Melanoma(32;1029 1042 25286 38395 44237)	.											.	CNDP1-90	0			c.C723T						.	C		1625,2781	499.3+/-364.4	307,1011,885	95	93	94		723	-5.6	0	18	dbSNP_121	94	5730,2870	672.9+/-403.0	1907,1916,477	no	coding-synonymous	CNDP1	NM_032649.5		2214,2927,1362	TT,TC,CC		33.3721,36.8815,43.4492		241/508	72234635	7355,5651	2203	4300	6503	SO:0001819	synonymous_variant	84735	exon6			CACTTACGGAACC		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.723C>T	18.37:g.72234635C>T		Somatic	165	0		WXS	Illumina GAIIx	Phase_I	177	8	NM_032649	0	0	0	0	0	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	CCDS12007.1																																																																																			C|0.481;T|0.519		0.493	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		T	72234635	C	T	72234635	2	4	53	1	0	0	0	0	0	0	0	1	3600	547	19	1		1	CNDP1	18	72234635	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	56474	72234635	5842613	101	11447											
SALL3	27164	hgsc.bcm.edu	37	chr18	76753067	76753067	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcggcgcccggcctgcCaagtccgcttctacctcaga	13	16	2	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr18:76753067C>G	ENST00000537592.2	+	2	1076	c.1076C>G	c.(1075-1077)cCa>cGa	p.P359R	SALL3_ENST00000536229.3_Missense_Mutation_p.P226R|SALL3_ENST00000575389.2_Missense_Mutation_p.P359R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	359					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCGGCCTGCCAAGTCCGCTT	0.741																																					p.P359R		.											.	SALL3-155	0			c.C1076G						.						11	12	12					18																	76753067		2164	4257	6421	SO:0001583	missense	27164	exon2			GCCTGCCAAGTCC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1076C>G	18.37:g.76753067C>G	ENSP00000441823:p.Pro359Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	40	10	NM_171999	0	0	0	0	0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.151	1.016350	0.19355	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.10860	2.87;2.83	4.37	4.37	0.52481	.	0.000000	0.56097	D	0.000035	T	0.35624	0.0938	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.33033	-0.9884	10	0.56958	D	0.05	-13.1988	17.1219	0.86704	0.0:1.0:0.0:0.0	.	359	Q9BXA9	SALL3_HUMAN	R	359;359;91	ENSP00000441823:P359R;ENSP00000439975:P359R	ENSP00000299466:P359R	P	+	2	0	SALL3	74854055	1.000000	0.71417	0.990000	0.47175	0.029000	0.11900	3.668000	0.54554	2.269000	0.75478	0.460000	0.39030	CCA	.		0.741	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		G	76753067	C	G	76753067	3	3	53	1	0	0	0	0	1	0	0	0	13857	594	21	3	1082	3	SALL3	18	76753067	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	4518432	76753067	1324181	102	11448											
POLRMT	5442	hgsc.bcm.edu	37	chr19	621561	621561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaccaggtccagcaCgcgcccgttgacgcgccagg	13	17	0	1	rs10421235	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:621561C>A	ENST00000588649.2	-	10	2221	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	713					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCAGCACGCGCCCGTTG	0.741													C|||	677	0.135184	0.2254	0.0461	5008	,	,		10089	0.0764		0.0258	False		,,,				2504	0.2495				p.V713L		.											.	POLRMT-92	0			c.G2137T						.	C	LEU/VAL	447,3185		14,419,1383	4	3	3		2137	2.1	0.5	19	dbSNP_119	3	143,6993		2,139,3427	no	missense	POLRMT	NM_005035.3	32	16,558,4810	AA,AC,CC		2.0039,12.3073,5.4792	benign	713/1231	621561	590,10178	1816	3568	5384	SO:0001583	missense	5442	exon10			CCAGCACGCGCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2137G>T	19.37:g.621561C>A	ENSP00000465759:p.Val713Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	12	NM_005035	0	0	2	2	0	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	179	0.08195970695970696	98	0.1991869918699187	23	0.06353591160220995	41	0.07167832167832168	17	0.022427440633245383	.	1.831	-0.469877	0.04445	0.123073	0.020039	ENSG00000099821	ENST00000215591	T	0.41400	1.0	4.38	2.07	0.26955	DNA-directed RNA polymerase, helix hairpin domain (1);	0.337088	0.28971	N	0.013545	T	0.00039	0.0001	L	0.28274	0.84	0.40284	P	0.021571000000000007	B	0.21520	0.057	B	0.21708	0.036	T	0.23226	-1.0194	9	0.10636	T	0.68	-21.1616	7.9361	0.29931	0.0:0.4845:0.4232:0.0923	rs10421235	713	O00411	RPOM_HUMAN	L	713	ENSP00000215591:V713L	ENSP00000215591:V713L	V	-	1	0	POLRMT	572561	0.015000	0.18098	0.490000	0.27465	0.466000	0.32739	0.069000	0.14552	0.409000	0.25649	0.455000	0.32223	GTG	C|0.918;A|0.082		0.741	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	621561	C	A	621561	3	1	53	1	0	0	0	0	1	0	0	0	12277	536	19	2	1603	2	POLRMT	19	621561	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		621561	58507422	103	11449											
XAB2	56949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	7689283	7689283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaaacacctgtgtgaagtCccgcacggtcatcactgtcc	9	14	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:7689283C>T	ENST00000358368.4	-	7	908	c.871G>A	c.(871-873)Gac>Aac	p.D291N	XAB2_ENST00000534844.1_Missense_Mutation_p.D288N	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	291					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						TGTGTGAAGTCCCGCACGGTC	0.637								Direct reversal of damage;Nucleotide excision repair (NER)																													p.D291N		.											.	XAB2-272	0			c.G871A						.						140	110	120					19																	7689283		2203	4300	6503	SO:0001583	missense	56949	exon7			TGAAGTCCCGCAC	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.871G>A	19.37:g.7689283C>T	ENSP00000351137:p.Asp291Asn	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	141	9	NM_020196	0	0	9	11	2	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464791	0.96257	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.33438	1.41;1.41	4.1	4.1	0.47936	.	0.067844	0.56097	D	0.000021	T	0.63402	0.2508	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74281	-0.3716	10	0.87932	D	0	-39.1188	15.2759	0.73742	0.0:1.0:0.0:0.0	.	291	Q9HCS7	SYF1_HUMAN	N	291;288	ENSP00000351137:D291N;ENSP00000438225:D288N	ENSP00000351137:D291N	D	-	1	0	XAB2	7595283	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.580000	0.67464	2.128000	0.65567	0.491000	0.48974	GAC	.		0.637	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		T	7689283	C	T	7689283	3	4	53	1	0	0	0	0	1	0	0	0	17467	855	30	3	1748	3	XAB2	19	7689283	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	7067722	7689283	51439700	104	11450											
KLF1	10661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr19	12996235	12996235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcctcttgcgcgcccacGaacgtcggcctcgcttggat	11	17	1	0	rs558942739		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:12996235G>A	ENST00000264834.4	-	2	849	c.809C>T	c.(808-810)tCg>tTg	p.S270L	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	270					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGCCCACGAACGTCGGCC	0.672																																					p.S270L		.											.	KLF1-90	0			c.C809T						.						14	13	14					19																	12996235		2200	4296	6496	SO:0001583	missense	10661	exon2			GCCCACGAACGTC	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.809C>T	19.37:g.12996235G>A	ENSP00000264834:p.Ser270Leu	Somatic	10	0		WXS	Illumina GAIIx	Phase_I	142	21	NM_006563	0	0	0	0	0	Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431753	0.83776	.	.	ENSG00000105610	ENST00000264834	T	0.12672	2.66	4.25	4.25	0.50352	.	0.207319	0.24504	N	0.037945	T	0.13329	0.0323	L	0.59436	1.845	0.26639	N	0.972326	P	0.42757	0.789	B	0.36092	0.217	T	0.19582	-1.0301	10	0.66056	D	0.02	.	9.4263	0.38581	0.0:0.0:0.788:0.212	.	270	Q13351	KLF1_HUMAN	L	270	ENSP00000264834:S270L	ENSP00000264834:S270L	S	-	2	0	KLF1	12857235	0.766000	0.28496	0.960000	0.40013	0.832000	0.47134	4.250000	0.58772	2.199000	0.70637	0.561000	0.74099	TCG	.		0.672	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		A	12996235	G	A	12996235	3	1	53	1	0	0	0	0	1	0	0	0	8364	1059	37	1	287	1	KLF1	19	12996235	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	5306952	12996235	46132748	105	11451											
OCEL1	79629	hgsc.bcm.edu	37	chr19	17337557	17337557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgccccccgcaggacccGcccatcagcccggaaacccc	9	23	1	0	rs10425488	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:17337557G>T	ENST00000215061.4	+	2	169	c.125G>T	c.(124-126)cGc>cTc	p.R42L	OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.R42L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	42	Pro-rich.		R -> L (in dbSNP:rs10425488).							central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGCAGGACCCGCCCATCAGCC	0.746													G|||	385	0.076877	0.115	0.0836	5008	,	,		10155	0.001		0.0755	False		,,,				2504	0.1002				p.R42L		.											.	OCEL1-68	0			c.G125T						.	G	LEU/ARG	300,3398		14,272,1563	4	6	6		125	3	0.1	19	dbSNP_119	6	480,6968		14,452,3258	no	missense	OCEL1	NM_024578.1	102	28,724,4821	TT,TG,GG		6.4447,8.1125,6.998	possibly-damaging	42/265	17337557	780,10366	1849	3724	5573	SO:0001583	missense	79629	exon2			GGACCCGCCCATC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.125G>T	19.37:g.17337557G>T	ENSP00000215061:p.Arg42Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_024578	0	0	3	5	2		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	142	0.06501831501831502	54	0.10975609756097561	30	0.08287292817679558	0	0.0	58	0.07651715039577836	G	16.23	3.063736	0.55432	0.081125	0.064447	ENSG00000099330	ENST00000215061	T	0.32988	1.43	3.01	3.01	0.34805	.	0.596543	0.14714	N	0.302724	T	0.00666	0.0022	N	0.19112	0.55	0.80722	P	0.0	D	0.76494	0.999	D	0.79108	0.992	T	0.04855	-1.0922	9	0.39692	T	0.17	-18.151	6.1073	0.20081	0.1412:0.0:0.8588:0.0	rs10425488	42	Q9H607	OCEL1_HUMAN	L	42	ENSP00000215061:R42L	ENSP00000215061:R42L	R	+	2	0	OCEL1	17198557	0.003000	0.15002	0.067000	0.19924	0.403000	0.30841	0.226000	0.17776	2.001000	0.58596	0.491000	0.48974	CGC	G|0.934;T|0.066		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		T	17337557	G	T	17337557	3	4	53	1	0	0	0	0	1	0	0	0	10855	1087	38	2	131	2	OCEL1	19	17337557	Missense_Mutation	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	4341322	17337557	41791426	106	11452											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_012088	0	0	0	12	12		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	53	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	285057	17622614	41506369	107	11453											
MAP1S	55201	hgsc.bcm.edu	37	chr19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccgagcgcacgctggcctCtgtgtgcgccctgctggtgt	15	15	1	0	rs17710707	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5	5	5		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_018174	0	0	1	3	2	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		G	17837425	C	G	17837425	3	3	53	1	0	0	0	0	1	0	0	0	9272	913	32	3	1250	3	MAP1S	19	17837425	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	214811	17837425	41291558	108	11454											
LGI4	163175	hgsc.bcm.edu	37	chr19	35622449	35622449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacactggaacgggttccCgcggaggtccctggggcaag	16	12	1	0	rs556580869		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:35622449C>A	ENST00000310123.3	-	6	988	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	LGI4_ENST00000591633.1_Missense_Mutation_p.G157W|LGI4_ENST00000392225.3_Missense_Mutation_p.G157W|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	157					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AACGGGTTCCCGCGGAGGTCC	0.721																																					p.G157W		.											.	LGI4-91	0			c.G469T						.						11	10	10					19																	35622449		1942	3711	5653	SO:0001583	missense	163175	exon6			GGTTCCCGCGGAG	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.469G>T	19.37:g.35622449C>A	ENSP00000312273:p.Gly157Trp	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	93	15	NM_139284	0	0	0	0	0	B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069835	0.55539	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.61040	0.14;0.14	3.74	3.74	0.42951	.	0.000000	0.64402	D	0.000016	T	0.76183	0.3952	M	0.83774	2.66	0.50313	D	0.999862	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80714	-0.1259	10	0.87932	D	0	.	13.0908	0.59166	0.0:1.0:0.0:0.0	.	157;157	Q8N135-2;Q8N135	.;LGI4_HUMAN	W	157	ENSP00000312273:G157W;ENSP00000376059:G157W	ENSP00000312273:G157W	G	-	1	0	LGI4	40314289	1.000000	0.71417	0.992000	0.48379	0.321000	0.28281	7.017000	0.76399	1.653000	0.50694	0.306000	0.20318	GGG	.		0.721	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			A	35622449	C	A	35622449	3	1	53	1	0	0	0	0	1	0	0	0	8783	652	23	2	1160	2	LGI4	19	35622449	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	17785024	35622449	23506534	109	11455											
SFRS16	11129	hgsc.bcm.edu	37	chr19	45567668	45567668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagctcccgctccagctctCgctccagctcccgctctcgc	7	23	2	0	rs71352251	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:45567668C>A	ENST00000221455.3	+	13	1287	c.1189C>A	c.(1189-1191)Cgc>Agc	p.R397S	CLASRP_ENST00000544944.2_Missense_Mutation_p.R397S|CLASRP_ENST00000391953.4_Missense_Mutation_p.R335S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	397	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ctccagctctcgctccagctc	0.751													C|||	9	0.00179712	0	0.0014	5008	,	,		8999	0		0.008	False		,,,				2504	0				p.R397S		.											.	CLASRP-154	0			c.C1189A						.	C	SER/ARG	15,3921		0,15,1953	7	8	8		1189	2.2	0.9	19	dbSNP_130	8	110,7628		0,110,3759	yes	missense	CLASRP	NM_007056.2	110	0,125,5712	AA,AC,CC		1.4216,0.3811,1.0708	benign	397/675	45567668	125,11549	1968	3869	5837	SO:0001583	missense	11129	exon13			AGCTCTCGCTCCA	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1189C>A	19.37:g.45567668C>A	ENSP00000221455:p.Arg397Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	36	20	NM_007056	0	0	2	5	3	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	9.225	1.034325	0.19590	0.003811	0.014216	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.10960	2.82;2.83;2.82;2.82	4.39	2.19	0.27852	.	0.442461	0.16641	N	0.205652	T	0.03695	0.0105	N	0.19112	0.55	0.47698	D	0.999495	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.29305	-1.0016	10	0.02654	T	1	-2.0521	9.152	0.36969	0.4644:0.5356:0.0:0.0	.	335;397;397	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	397;397;335;397	ENSP00000221455:R397S;ENSP00000375814:R397S;ENSP00000375815:R335S;ENSP00000438702:R397S	ENSP00000221455:R397S	R	+	1	0	CLASRP	50259508	0.075000	0.21258	0.922000	0.36590	0.800000	0.45204	0.653000	0.24902	0.414000	0.25790	0.563000	0.77884	CGC	C|0.996;A|0.004		0.751	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		A	45567668	C	A	45567668	3	1	53	1	0	0	0	0	1	0	0	0	14217	884	31	2	1235	2	SFRS16	19	45567668	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	9945219	45567668	13561315	110	11456											
CKM	1158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	45815122	45815122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctccttctccgTcatgctcttcagagggtagt	10	13	4	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:45815122T>C	ENST00000221476.3	-	5	712	c.538A>G	c.(538-540)Acg>Gcg	p.T180A		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	180	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTTCTCCGTCATGCTCTTC	0.617																																					p.T180A		.											.	CKM-91	0			c.A538G						.						88	65	73					19																	45815122		2203	4300	6503	SO:0001583	missense	1158	exon5			TCTCCGTCATGCT	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.538A>G	19.37:g.45815122T>C	ENSP00000221476:p.Thr180Ala	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	119	19	NM_001824	0	0	0	0	0	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974073	0.53720	.	.	ENSG00000104879	ENST00000221476	T	0.23950	1.88	5.18	4.15	0.48705	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.110120	0.64402	D	0.000009	T	0.41673	0.1169	H	0.95645	3.7	0.51012	D	0.999901	B	0.25272	0.122	B	0.31442	0.13	T	0.42982	-0.9419	10	0.72032	D	0.01	-23.8165	5.9795	0.19399	0.1649:0.0:0.1719:0.6632	.	180	P06732	KCRM_HUMAN	A	180	ENSP00000221476:T180A	ENSP00000221476:T180A	T	-	1	0	CKM	50506962	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	3.743000	0.55104	0.799000	0.34018	0.459000	0.35465	ACG	.		0.617	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			C	45815122	T	C	45815122	3	2	53	1	0	0	0	0	1	0	0	0	3455	1667	58	4	623	4	CKM	19	45815122	Missense_Mutation	SNP	T	TCGA-OR-A5LK-01A-11D-A29I-10	247454	45815122	13313861	111	11457											
PPP1R13L	10848	hgsc.bcm.edu	37	chr19	45900158	45900158	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagagcggggtgcgcggcgaCgacggccgtcccttggggga	20	11	0	1	rs367747237		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:45900158C>G	ENST00000418234.2	-	4	435	c.357G>C	c.(355-357)tcG>tcC	p.S119S	PPP1R13L_ENST00000360957.5_Silent_p.S119S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	119	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGCGCGGCGACGACGGCCGTC	0.741																																					p.S119S	Pancreas(61;1447 1663 31419 50578)	.											.	PPP1R13L-91	0			c.G357C						.	C	,	1,4343		0,1,2171	14	19	17		357,357	-2.2	0.1	19		17	0,8490		0,0,4245	no	coding-synonymous,coding-synonymous	PPP1R13L	NM_001142502.1,NM_006663.3	,	0,1,6416	GG,GC,CC		0.0,0.023,0.0078	,	119/829,119/829	45900158	1,12833	2172	4245	6417	SO:0001819	synonymous_variant	10848	exon4			CGGCGACGACGGC	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.357G>C	19.37:g.45900158C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_001142502	0	0	0	1	1	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	CCDS33050.1																																																																																			.		0.741	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		G	45900158	C	G	45900158	2	3	53	1	0	0	0	0	0	0	0	1	12400	523	19	2		2	PPP1R13L	19	45900158	Silent	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	85036	45900158	13228825	112	11458											
ARHGAP35	2909	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	47492807	47492807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcctttcagaccacaAcctggacctggcagagaaag	9	12	1	3			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:47492807A>G	ENST00000404338.3	+	4	3911	c.3911A>G	c.(3910-3912)aAc>aGc	p.N1304S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1304	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)										TCAGACCACAACCTGGACCTG	0.527																																					p.N1304S		.											.	.	0			c.A3911G						.						79	80	80					19																	47492807		1976	4171	6147	SO:0001583	missense	2909	exon4			ACCACAACCTGGA	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.3911A>G	19.37:g.47492807A>G	ENSP00000385720:p.Asn1304Ser	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	154	21	NM_004491	0	0	0	0	0	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484783	0.44147	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.18174	2.23	5.62	3.54	0.40534	.	0.151012	0.56097	D	0.000029	T	0.12902	0.0313	L	0.37507	1.11	0.43246	D	0.995166	B	0.06786	0.001	B	0.01281	0.0	T	0.06356	-1.0831	10	0.34782	T	0.22	-43.0572	9.6935	0.40143	0.8719:0.0:0.1281:0.0	.	1304	Q9NRY4-2	.	S	1304	ENSP00000385720:N1304S	ENSP00000324820:N1304S	N	+	2	0	ARHGAP35	52184647	0.621000	0.27077	1.000000	0.80357	0.983000	0.72400	0.885000	0.28227	2.150000	0.67090	0.533000	0.62120	AAC	.		0.527	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		G	47492807	A	G	47492807	3	3	53	1	0	0	0	0	1	0	0	0	6822	43	2	4	3925	4	ARHGAP35	19	47492807	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	1592649	47492807	11636176	113	11459											
NR1H2	7376	hgsc.bcm.edu;ucsc.edu	37	chr19	50881825	50881825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagattcggaaacaGcagcaggagtcacagtcaca	11	8	2	3	rs55817866	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000411902.2_Silent_p.Q76Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																					p.Q173Q		.											.	NR1H2-186	0			c.G519A						.						38	47	44					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376	exon6			GAAACAGCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	125	7	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																			G|0.903;A|0.097		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			A	50881825	G	A	50881825	2	1	53	1	0	0	0	0	0	0	0	1	10656	962	34	3		3	NR1H2	19	50881825	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	3389018	50881825	8247158	114	11460											
ZNF761	388561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53959137	53959137	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacatgccatcgtagacGtcatactggagagcaacctt	8	12	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:53959137G>A	ENST00000454407.1	+	0	1829							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)		CATCGTAGACGTCATACTGGA	0.393																																					p.R459H		.											.	ZNF761-91	0			c.G1376A						.						101	105	104					19																	53959137		2203	4300	6503			388561	exon7			GTAGACGTCATAC	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.53959137G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	131	24	NM_001008401	0	0	2	2	0	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																				.		0.393	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53959137	G	A	53959137	1	1	53	0	1	0	0	0	0	0	0	0	18184	1145	40	1		1	ZNF761	19	53959137	RNA	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	3077312	53959137	5169846	115	11461											
PPP1R12C	54776	hgsc.bcm.edu	37	chr19	55628609	55628609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgcagggcgctgatAccgtcggcgttggtggagtc	17	10	0	1	rs66707428	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1	2	1					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_017607	0	0	1	2	1		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		G	55628609	A	G	55628609	2	3	53	1	0	0	0	0	0	0	0	1	12398	378	14	4		4	PPP1R12C	19	55628609	Silent	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	1669472	55628609	3500374	116	11462											
ZNF628	89887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55995158	55995158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggtgaccacggtccaGctccagcccgtggccggcca	14	16	0	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr19:55995158G>A	ENST00000598519.1	+	3	3151	c.2598G>A	c.(2596-2598)caG>caA	p.Q866Q	NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q862Q|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	866					transcription, DNA-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)		CCACGGTCCAGCTCCAGCCCG	0.647																																					p.Q866Q		.											.	ZNF628-22	0			c.G2598A						.						37	42	41					19																	55995158		2202	4300	6502	SO:0001819	synonymous_variant	89887	exon3			GGTCCAGCTCCAG	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.2598G>A	19.37:g.55995158G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	202	68	NM_033113	0	0	3	8	5	Q86X34	Silent	SNP	ENST00000598519.1	37	CCDS33116.3																																																																																			.		0.647	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		A	55995158	G	A	55995158	2	1	53	1	0	0	0	0	0	0	0	1	18100	962	34	3		3	ZNF628	19	55995158	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	366549	55995158	3133825	117	11463											
TMC2	117532	broad.mit.edu;bcgsc.ca	37	chr20	2582894	2582894	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttactttgtggttaagCgatctcagcaattctccaaa	6	9	3	0	rs202171256		TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr20:2582894C>T	ENST00000358864.1	+	11	1375	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	454					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTGGTTAAGCGATCTCAGCA	0.408																																					p.R454X		.											.	TMC2-93	0			c.C1360T						.						169	146	154					20																	2582894		2203	4300	6503	SO:0001587	stop_gained	117532	exon11			GTTAAGCGATCTC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1360C>T	20.37:g.2582894C>T	ENSP00000351732:p.Arg454*	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	261	10	NM_080751	0	0	0	0	0	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	39	7.678704	0.98428	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.58	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0622	13.7421	0.62853	0.1551:0.8449:0.0:0.0	.	.	.	.	X	454	.	ENSP00000351732:R454X	R	+	1	2	TMC2	2530894	0.998000	0.40836	0.998000	0.56505	0.983000	0.72400	0.837000	0.27558	1.457000	0.47850	0.655000	0.94253	CGA	C|0.999;T|0.001		0.408	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2582894	C	T	2582894	4	4	53	1	0	0	0	0	0	1	0	0	16032	760	27	1	1402	1	TMC2	20	2582894	Nonsense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10		2582894	60442626	118	11464											
MYLK2	85366	broad.mit.edu;bcgsc.ca	37	chr20	30418931	30418931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgtggagtatgggggtgAtcacctacatgctgtgagct	14	7	1	2			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr20:30418931A>C	ENST00000375994.2	+	9	1684	c.1411A>C	c.(1411-1413)Atc>Ctc	p.I471L	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.I471L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGGGGGTGATCACCTACAT	0.562																																					p.I471L		.											.	MYLK2-760	0			c.A1411C						.						99	100	100					20																	30418931		2203	4300	6503	SO:0001583	missense	85366	exon10			GGGGTGATCACCT	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1411A>C	20.37:g.30418931A>C	ENSP00000365162:p.Ile471Leu	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	198	8	NM_033118	0	0	0	0	0	Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971184	0.74246	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68903	-0.36;-0.36	3.94	3.94	0.45596	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	0.69495	0.3117	L	0.28458	0.855	0.40402	D	0.979656	P	0.47191	0.891	P	0.62382	0.901	T	0.71623	-0.4537	9	0.51188	T	0.08	.	12.0531	0.53518	1.0:0.0:0.0:0.0	.	471	Q9H1R3	MYLK2_HUMAN	L	471	ENSP00000365162:I471L;ENSP00000365152:I471L	ENSP00000365152:I471L	I	+	1	0	MYLK2	29882592	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.871000	0.75531	1.756000	0.51951	0.448000	0.29417	ATC	.		0.562	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		C	30418931	A	C	30418931	3	2	53	1	0	0	0	0	1	0	0	0	10095	333	12	5	1445	5	MYLK2	20	30418931	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	27836037	30418931	32606589	119	11465											
PRIC285	85441	hgsc.bcm.edu	37	chr20	62194713	62194713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggccgtctccacggccAgggtgtgtgggtccggcaca	16	13	1	0	rs3810486	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr20:62194713A>C	ENST00000467148.1	-	8	5531	c.5462T>G	c.(5461-5463)cTg>cGg	p.L1821R	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1252R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1821			L -> R (in dbSNP:rs3810486).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCACGGCCAGGGTGTGTGG	0.726													C|||	1226	0.244808	0.0575	0.1023	5008	,	,		15371	0.5923		0.1948	False		,,,				2504	0.2924				p.L1821R		.											.	.	0			c.T5462G						.	C	ARG/LEU,ARG/LEU	196,3498		4,188,1655	3	3	3		5462,3755	-2.5	0	20	dbSNP_107	3	895,6669		51,793,2938	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	102,102	55,981,4593	CC,CA,AA		11.8324,5.3059,9.6909	benign,benign	1821/2650,1252/2081	62194713	1091,10167	1847	3782	5629	SO:0001583	missense	85441	exon9			ACGGCCAGGGTGT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5462T>G	20.37:g.62194713A>C	ENSP00000417401:p.Leu1821Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	6	NM_001037335	0	0	3	4	1	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	575	0.2632783882783883	23	0.046747967479674794	44	0.12154696132596685	352	0.6153846153846154	156	0.20580474934036938	C	7.173	0.588046	0.13812	0.053059	0.118324	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79033	-1.23;-1.15	4.54	-2.49	0.06403	.	2.710140	0.01204	N	0.007649	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	9	0.18710	T	0.47	0.0741	1.1162	0.01714	0.3228:0.32:0.1009:0.2562	rs3810486	1821;1252	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	1252;1821	ENSP00000393257:L1252R;ENSP00000417401:L1821R	ENSP00000393257:L1252R	L	-	2	0	RP4-697K14.7	61665157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.351000	0.08249	-0.323000	0.08544	CTG	A|0.739;C|0.261		0.726	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62194713	A	C	62194713	3	2	53	1	0	0	0	0	1	0	0	0	12527	188	7	5	2535	5	PRIC285	20	62194713	Missense_Mutation	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10	31775782	62194713	830807	120	11466											
RTDR1	27156	bcgsc.ca	37	chr22	23482460	23482460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcatgaggtcacacaAggccatgagggctttctgcc	12	11	3	2	rs4822360	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr22:23482460A>G	ENST00000216036.4	-	2	344	c.148T>C	c.(148-150)Ttg>Ctg	p.L50L	RTDR1_ENST00000406876.1_Silent_p.L50L	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		50								p.L50L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGGTCACACAAGGCCATGAGG	0.577													G|||	2628	0.52476	0.6354	0.5706	5008	,	,		18083	0.4038		0.5547	False		,,,				2504	0.4366				p.L50L		.											.	RTDR1-516	1	Substitution - coding silent(1)	stomach(1)	c.T148C						.	G		2827,1579	493.4+/-362.7	899,1029,275	151	114	126		148	3.9	1	22	dbSNP_111	126	4819,3781	536.0+/-382.9	1365,2089,846	no	coding-synonymous	RTDR1	NM_014433.2		2264,3118,1121	GG,GA,AA		43.9651,35.8375,41.2117		50/349	23482460	7646,5360	2203	4300	6503	SO:0001819	synonymous_variant	27156	exon2			CACACAAGGCCAT																												ENST00000216036.4:c.148T>C	22.37:g.23482460A>G		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	95	4	NM_014433	0	0	0	0	0		Silent	SNP	ENST00000216036.4	37	CCDS13803.1																																																																																			A|0.436;G|0.564		0.577	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			G	23482460	A	G	23482460	2	3	53	1	0	0	0	0	0	0	0	1	13764	69	3	4		4	RTDR1	22	23482460	Silent	SNP	A	TCGA-OR-A5LK-01A-11D-A29I-10		23482460	27822106	121	11467											
CRYBB3	1417	broad.mit.edu;bcgsc.ca	37	chr22	25597401	25597401	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcacccgaacaggctgcagCtggcaagagccatggagacc	13	13	0	2	rs147831812	byFrequency	TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr22:25597401C>G	ENST00000215855.2	+	2	118	c.38C>G	c.(37-39)gCt>gGt	p.A13G	CRYBB3_ENST00000404334.1_Missense_Mutation_p.A13G	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	13	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						CAGGCTGCAGCTGGCAAGAGC	0.607													C|||	7	0.00139776	0	0.0014	5008	,	,		17324	0		0.003	False		,,,				2504	0.0031				p.E13G		.											.	CRYBB3-90	0			c.A38G						.	C	GLY/ALA	7,4399	11.4+/-27.6	0,7,2196	76	78	78		38	4.8	1	22	dbSNP_134	78	60,8540	37.8+/-93.5	0,60,4240	yes	missense	CRYBB3	NM_004076.3	60	0,67,6436	GG,GC,CC		0.6977,0.1589,0.5151	benign	13/212	25597401	67,12939	2203	4300	6503	SO:0001583	missense	1417	exon2			CTGCAGCTGGCAA		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.38C>G	22.37:g.25597401C>G	ENSP00000215855:p.Ala13Gly	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	119	6	NM_004076	0	0	0	0	0	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	16.18	3.049798	0.55218	0.001589	0.006977	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.79749	-0.97;-1.3	4.81	4.81	0.61882	.	1.241440	0.05694	N	0.592805	T	0.76076	0.3937	L	0.53249	1.67	0.49130	D	0.999751	B	0.34241	0.444	B	0.35607	0.206	T	0.66388	-0.5936	10	0.45353	T	0.12	.	15.3457	0.74334	0.0:1.0:0.0:0.0	.	13	P26998	CRBB3_HUMAN	G	13	ENSP00000215855:A13G;ENSP00000386123:A13G	ENSP00000215855:A13G	A	+	2	0	CRYBB3	23927401	1.000000	0.71417	0.974000	0.42286	0.879000	0.50718	4.709000	0.61867	2.201000	0.70794	0.655000	0.94253	GCT	C|0.997;G|0.003		0.607	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		G	25597401	C	G	25597401	3	3	53	1	0	0	0	0	1	0	0	0	3919	797	28	3	40	3	CRYBB3	22	25597401	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	2114941	25597401	25707165	122	11468											
LIMK2	3985	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	31667154	31667154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgtgcatcatccaccgGgatctgaactcgcacaactg	8	13	3	1			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chr22:31667154G>A	ENST00000331728.4	+	12	1464	c.1350G>A	c.(1348-1350)cgG>cgA	p.R450R	LIMK2_ENST00000340552.4_Silent_p.R429R|LIMK2_ENST00000406516.1_Silent_p.R372R|LIMK2_ENST00000333611.4_Silent_p.R429R|LIMK2_ENST00000444929.2_Silent_p.R204R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCATCCACCGGGATCTGAACT	0.532																																					p.R450R		.											.	LIMK2-548	0			c.G1350A						.						187	142	157					22																	31667154		2203	4300	6503	SO:0001819	synonymous_variant	3985	exon12			CCACCGGGATCTG	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1350G>A	22.37:g.31667154G>A		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	131	10	NM_005569	0	0	1	1	0	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	CCDS13891.1																																																																																			.		0.532	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		A	31667154	G	A	31667154	2	1	53	1	0	0	0	0	0	0	0	1	8831	1219	43	3		3	LIMK2	22	31667154	Silent	SNP	G	TCGA-OR-A5LK-01A-11D-A29I-10	6069753	31667154	19637412	123	11469											
TBL1X	6907	hgsc.bcm.edu;broad.mit.edu	37	chrX	9656179	9656180	+	In_Frame_Ins	INS	-	-	GCG													tcgctcagcagcaagccagtINSgcggcggcggcggcggctgc							TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chrX:9656179_9656180insGCG	ENST00000217964.7	+	7	1120_1121	c.480_481insGCG	c.(481-483)gcg>GCGgcg	p.161_161A>AA	TBL1X_ENST00000407597.2_In_Frame_Ins_p.161_161A>AA|TBL1X_ENST00000380961.1_In_Frame_Ins_p.110_110A>AA|TBL1X_ENST00000536365.1_In_Frame_Ins_p.110_110A>AA|TBL1X_ENST00000424279.1_In_Frame_Ins_p.110_110A>AA	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	161	Poly-Ala.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGCAAGCCAGTgcggcggcggc	0.658														2	0.000529801	0	0.0014	3775	,	,		12227	0.001		0	False		,,,				2504	0				p.S160delinsSA		.											.	TBL1X-131	0			c.480_481insGCG						.																																			SO:0001652	inframe_insertion	6907	exon7			AGCCAGTGCGGCG	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.493_495dupGCG	X.37:g.9656186_9656188dupGCG	ENSP00000217964:p.Ala168dup	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	81	28	NM_001139466	0	0	0	0	0	A8K044|A8K4J7|Q86UY2	In_Frame_Ins	INS	ENST00000217964.7	37	CCDS14133.1																																																																																			.		0.658	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		GCG	9656180	-	GCG	9656179	7	5	53	1	0	1	1	0	0	0	0	0	15686	1693	59	0	494	0	TBL1X	23	9656179	In_Frame_Ins	INS	-	TCGA-OR-A5LK-01A-11D-A29I-10		9656179	145614381	124	11470											
PPEF1	5475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	18822065	18822065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggctgttttccaaataCgtgccgaggagggggctgct	14	8	0	0			TCGA-OR-A5LK-01A-11D-A29I-10	TCGA-OR-A5LK-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	de28f978-5783-417f-acac-610329360c22	695b49cf-c521-442f-9074-e9b47b7200c9	g.chrX:18822065C>T	ENST00000361511.4	+	14	1615	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.T321M|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.T309M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	374	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTTCCAAATACGTGCCGAGGA	0.418																																					p.T374M		.											.	PPEF1-226	0			c.C1121T						.						141	128	132					X																	18822065		2203	4300	6503	SO:0001583	missense	5475	exon14			CAAATACGTGCCG	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1121C>T	X.37:g.18822065C>T	ENSP00000354871:p.Thr374Met	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	46	8	NM_006240	0	0	0	0	0	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450373	0.26074	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	T;T;T	0.06142	3.34;3.34;3.34	5.03	4.14	0.48551	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.311972	0.27846	N	0.017602	T	0.23492	0.0568	M	0.85373	2.75	0.29828	N	0.830246	D;D	0.89917	1.0;0.999	D;P	0.69824	0.966;0.855	T	0.11251	-1.0595	10	0.72032	D	0.01	-14.0088	7.396	0.26936	0.4569:0.4142:0.1289:0.0	.	374;346	O14829;O14829-3	PPE1_HUMAN;.	M	374;321;309	ENSP00000354871:T374M;ENSP00000352806:T321M;ENSP00000441289:T309M	ENSP00000352806:T321M	T	+	2	0	PPEF1	18731986	0.016000	0.18221	0.653000	0.29593	0.113000	0.19764	0.548000	0.23314	1.042000	0.40150	0.594000	0.82650	ACG	.		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		T	18822065	C	T	18822065	3	4	53	1	0	0	0	0	1	0	0	0	12346	536	19	1	1163	1	PPEF1	23	18822065	Missense_Mutation	SNP	C	TCGA-OR-A5LK-01A-11D-A29I-10	9165886	18822065	136448495	125	11471											
PRAMEF4	400735	broad.mit.edu;bcgsc.ca	37	chr1	12939507	12939507	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagccctaatttgagcaaatCtgctccagcagagagtacca	8	12	1	2	rs543370672		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:12939507C>G	ENST00000235349.5	-	4	1365	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	432					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAGCAAATCTGCTCCAGCA	0.507													c|||	1	0.000199681	0	0	5008	,	,		23226	0		0	False		,,,				2504	0.001				p.R432T		.											.	PRAMEF4-45	0			c.G1295C						.						68	79	75					1																	12939507		1489	2646	4135	SO:0001583	missense	400735	exon4			GCAAATCTGCTCC		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1295G>C	1.37:g.12939507C>G	ENSP00000235349:p.Arg432Thr	Somatic	244	2		WXS	Illumina GAIIx	Phase_I	217	55	NM_001009611	0	0	0	0	0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	C	7.227	0.598573	0.13939	.	.	ENSG00000243073	ENST00000235349	T	0.52295	0.67	1.48	0.46	0.16684	.	0.822734	0.10980	N	0.612781	T	0.62258	0.2413	M	0.76328	2.33	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.48502	-0.9030	10	0.66056	D	0.02	.	5.4413	0.16511	0.0:0.6403:0.3597:0.0	.	432	O60810	PRAM4_HUMAN	T	432	ENSP00000235349:R432T	ENSP00000235349:R432T	R	-	2	0	PRAMEF4	12862094	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.374000	0.07484	0.165000	0.19558	0.400000	0.26472	AGA	C|1.000;G|0.000		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12939507	C	G	12939507	3	3	54	1	0	0	0	0	1	0	0	0	12479	913	32	3	145	3	PRAMEF4	1	12939507	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		12939507	236311114	1	11472											
PRAMEF10	343071	ucsc.edu	37	chr1	12952796	12952796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatggccatgagccacagTtagggcaagggacgggacca	15	10	0	2	rs199584852		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:12952796T>G	ENST00000235347.4	-	4	1455	c.1376A>C	c.(1375-1377)aAc>aCc	p.N459T		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	459					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCCACAGTTAGGGCAAGG	0.537																																					p.N459T		.											.	PRAMEF10-90	0			c.A1376C						.																																			SO:0001583	missense	343071	exon4			CCACAGTTAGGGC	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.1376A>C	1.37:g.12952796T>G	ENSP00000235347:p.Asn459Thr	Somatic	170	12		WXS	Illumina GAIIx	Phase_I	41	17	NM_001039361	0	0	0	0	0	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	N	0.993	-0.693518	0.03303	.	.	ENSG00000187545	ENST00000235347	T	0.44881	0.91	1.02	-0.309	0.12769	.	3.436970	0.01056	N	0.004550	T	0.21186	0.0510	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11591	-1.0581	10	0.12766	T	0.61	.	5.3537	0.16050	0.0:0.0:0.2898:0.7102	.	459	O60809	PRA10_HUMAN	T	459	ENSP00000235347:N459T	ENSP00000235347:N459T	N	-	2	0	PRAMEF10	12875383	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.706000	0.05028	-1.044000	0.02363	AAC	T|0.667;G|0.333		0.537	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		G	12952796	T	G	12952796	3	3	54	1	0	0	0	0	1	0	0	0	12468	1725	60	5	52	5	PRAMEF10	1	12952796	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	13289	12952796	236297825	2	11473											
TMEM50A	23585	bcgsc.ca	37	chr1	25678142	25678142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagtatcgaatggacaaGtccgaggtgatagttacagt	12	6	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:25678142G>T	ENST00000374358.4	+	4	785	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	78						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GAATGGACAAGTCCGAGGTGA	0.358																																					p.V78F		.											.	TMEM50A-90	0			c.G232T						.						174	162	166					1																	25678142		2203	4300	6503	SO:0001583	missense	23585	exon4			GGACAAGTCCGAG	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.232G>T	1.37:g.25678142G>T	ENSP00000363478:p.Val78Phe	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	54	4	NM_014313	0	0	58	58	0		Missense_Mutation	SNP	ENST00000374358.4	37	CCDS264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386027	0.95967	.	.	ENSG00000183726	ENST00000374358	T	0.33865	1.39	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.72576	2.205	0.80722	D	1	D;D	0.63880	0.981;0.993	P;D	0.69142	0.901;0.962	T	0.60347	-0.7281	10	0.54805	T	0.06	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	78;78	B7Z5M7;O95807	.;TM50A_HUMAN	F	78	ENSP00000363478:V78F	ENSP00000363478:V78F	V	+	1	0	TMEM50A	25550729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.873000	0.92357	2.663000	0.90544	0.645000	0.84053	GTC	.		0.358	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1			T	25678142	G	T	25678142	3	4	54	1	0	0	0	0	1	0	0	0	16222	1029	36	3	242	3	TMEM50A	1	25678142	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	12725346	25678142	223572479	3	11474											
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34276428	34276428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgggggaggtgatgatGcccgaggggcctcgaaggtg	19	6	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:34276428G>A	ENST00000338325.1	-	3	445	c.33C>T	c.(31-33)ggC>ggT	p.G11G	CSMD2_ENST00000373381.4_Silent_p.G454G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	414						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)				AGGTGATGATGCCCGAGGGGC	0.532																																					p.G414G		.											.	CSMD2-103	0			c.C1242T						.						115	113	114					1																	34276428		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon10			GATGATGCCCGAG	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.33C>T	1.37:g.34276428G>A		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_052896	0	0	0	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000338325.1	37																																																																																				.		0.532	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		A	34276428	G	A	34276428	2	1	54	1	0	0	0	0	0	0	0	1	3954	1306	46	3		3	CSMD2	1	34276428	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	8598286	34276428	214974193	4	11475											
DNAJC6	9829	bcgsc.ca	37	chr1	65858145	65858145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagtcattctgtgaggaGgaccacgctgccctagtgaa	13	9	2	3	rs4325172	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:65858145G>A	ENST00000395325.3	+	12	1486	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	DNAJC6_ENST00000263441.7_Silent_p.E430E|DNAJC6_ENST00000371069.4_Silent_p.E500E	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	443					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						TCTGTGAGGAGGACCACGCTG	0.448													G|||	1773	0.354034	0.2784	0.4323	5008	,	,		21332	0.1885		0.5338	False		,,,				2504	0.3865				p.E500E		.											.	DNAJC6-272	0			c.G1500A						.	G		1412,2994	462.4+/-353.2	217,978,1008	57	53	55		1329	2.5	1	1	dbSNP_111	55	4592,4008	596.6+/-393.6	1213,2166,921	no	coding-synonymous	DNAJC6	NM_014787.2		1430,3144,1929	AA,AG,GG		46.6047,32.0472,46.1633		443/914	65858145	6004,7002	2203	4300	6503	SO:0001819	synonymous_variant	9829	exon12			TGAGGAGGACCAC	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.1329G>A	1.37:g.65858145G>A		Somatic	226	1		WXS	Illumina GAIIx	Phase_I	77	5	NM_001256864	0	0	2	2	0	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																			G|0.576;A|0.424		0.448	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			A	65858145	G	A	65858145	2	1	54	1	0	0	0	0	0	0	0	1	4667	991	35	3		3	DNAJC6	1	65858145	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	31581717	65858145	183392476	5	11476											
SV2A	9900	bcgsc.ca	37	chr1	149876665	149876665	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatgggtgcagccttggtGattcccacgaaggatgtgaa	15	7	0	2	rs13067	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:149876665G>A	ENST00000369146.3	-	13	2620	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	710					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)	CAGCCTTGGTGATTCCCACGA	0.602													G|||	107	0.0213658	8e-04	0.0115	5008	,	,		19445	0.001		0.0308	False		,,,				2504	0.0675				p.I710I		.											.	SV2A-97	0			c.C2130T						.	G		21,4385	29.0+/-57.7	0,21,2182	59	49	52		2130	4.2	1	1	dbSNP_52	52	255,8345	98.6+/-160.1	1,253,4046	no	coding-synonymous	SV2A	NM_014849.3		1,274,6228	AA,AG,GG		2.9651,0.4766,2.1221		710/743	149876665	276,12730	2203	4300	6503	SO:0001819	synonymous_variant	9900	exon13			CTTGGTGATTCCC	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.2130C>T	1.37:g.149876665G>A		Somatic	352	1		WXS	Illumina GAIIx	Phase_I	480	40	NM_014849	0	0	2	2	0	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																			G|0.984;A|0.016		0.602	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149876665	G	A	149876665	2	1	54	1	0	0	0	0	0	0	0	1	15464	1280	45	3		3	SV2A	1	149876665	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	84018520	149876665	99373956	6	11477											
SPTA1	6708	broad.mit.edu	37	chr1	158641186	158641186	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaaagtcttcatgcttctGaagaagggcttctgcactgc	9	11	5	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:158641186G>A	ENST00000368147.4	-	12	1726	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	516					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q516K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCTTCTGAAGAAGGGCT	0.488																																					p.Q516X		.											.	SPTA1-142	1	Substitution - Missense(1)	lung(1)	c.C1546T						.						113	108	109					1																	158641186		1873	4091	5964	SO:0001587	stop_gained	6708	exon12			GCTTCTGAAGAAG	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.1546C>T	1.37:g.158641186G>A	ENSP00000357129:p.Gln516*	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	161	6	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	39	7.893551	0.98548	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.17	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4201	0.32694	0.0:0.1452:0.5845:0.2703	.	.	.	.	X	516	.	ENSP00000357129:Q516X	Q	-	1	0	SPTA1	156907810	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	3.271000	0.51608	1.398000	0.46701	0.655000	0.94253	CAG	.		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158641186	G	A	158641186	4	1	54	1	0	0	0	0	0	1	0	0	15163	1299	45	3	5877	3	SPTA1	1	158641186	Nonsense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	8764521	158641186	90609435	7	11478											
SPTA1	6708	broad.mit.edu;bcgsc.ca	37	chr1	158644356	158644356	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctgatgcctgtccagcaGaacttctccaccagccacat	7	16	1	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:158644356G>A	ENST00000368147.4	-	9	1402	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	408					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)					CTGTCCAGCAGAACTTCTCCA	0.498																																					p.L408L		.											.	SPTA1-142	0			c.C1222T						.						127	125	126					1																	158644356		1996	4177	6173	SO:0001819	synonymous_variant	6708	exon9			CCAGCAGAACTTC	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.1222C>T	1.37:g.158644356G>A		Somatic	96	1		WXS	Illumina GAIIx	Phase_I	183	12	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																			.		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158644356	G	A	158644356	2	1	54	1	0	0	0	0	0	0	0	1	15163	933	33	3		3	SPTA1	1	158644356	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	3170	158644356	90606265	8	11479											
OR10J1	26476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159410014	159410014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggctgcgtatccaacttGtcctgggggcctgcagcatt	13	11	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:159410014G>T	ENST00000423932.3	+	1	503	c.466G>T	c.(466-468)Gtc>Ttc	p.V156F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	156					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TATCCAACTTGTCCTGGGGGC	0.502																																					p.V156F		.											.	OR10J1-69	0			c.G466T						.						136	129	131					1																	159410014		2203	4300	6503	SO:0001583	missense	26476	exon1			CAACTTGTCCTGG	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.466G>T	1.37:g.159410014G>T	ENSP00000399078:p.Val156Phe	Somatic	239	0		WXS	Illumina GAIIx	Phase_I	800	83	NM_012351	0	0	0	0	0	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	9.858	1.195392	0.22037	.	.	ENSG00000196184	ENST00000423932	T	0.39997	1.05	4.58	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.447166	0.16499	N	0.211768	T	0.46521	0.1397	M	0.91090	3.175	0.09310	N	1	D	0.53151	0.958	P	0.52710	0.707	T	0.48875	-0.8996	10	0.87932	D	0	.	6.9948	0.24777	0.2013:0.0:0.7987:0.0	.	156	P30954	O10J1_HUMAN	F	156	ENSP00000399078:V156F	ENSP00000399078:V156F	V	+	1	0	OR10J1	157676638	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	0.082000	0.14847	1.258000	0.44101	0.655000	0.94253	GTC	.		0.502	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		T	159410014	G	T	159410014	3	4	54	1	0	0	0	0	1	0	0	0	10949	1377	48	3	468	3	OR10J1	1	159410014	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	765658	159410014	89840607	9	11480											
OLFML2B	25903	bcgsc.ca	37	chr1	161967692	161967692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttccccacccagcaggaGcatctttccccagcgagtct	8	16	2	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:161967692G>A	ENST00000294794.3	-	6	1820	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A467V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	466					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCCAGCAGGAGCATCTTTCCC	0.577																																					p.A466V		.											.	OLFML2B-69	0			c.C1397T						.						110	107	108					1																	161967692		2203	4300	6503	SO:0001583	missense	25903	exon6			GCAGGAGCATCTT	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1397C>T	1.37:g.161967692G>A	ENSP00000294794:p.Ala466Val	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	280	8	NM_015441	0	0	10	10	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	9.543	1.114015	0.20795	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86865	-2.18;-2.18	4.29	-1.09	0.09904	.	.	.	.	.	T	0.49064	0.1535	N	0.12182	0.205	0.19300	N	0.999973	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.04191	-1.0970	8	0.17832	T	0.49	.	4.4761	0.11745	0.3929:0.2986:0.3085:0.0	.	467;466	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	466;467	ENSP00000294794:A466V;ENSP00000356917:A467V	ENSP00000294794:A466V	A	-	2	0	OLFML2B	160234316	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.454000	0.02381	-0.428000	0.07339	0.462000	0.41574	GCT	.		0.577	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161967692	G	A	161967692	3	1	54	1	0	0	0	0	1	0	0	0	10897	971	34	3	867	3	OLFML2B	1	161967692	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	2557678	161967692	87282929	10	11481											
FMO1	2326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	171254505	171254505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcaccataccagttccGcttgactggcccaggaaaat	8	13	1	1	rs28360433	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:171254505G>A	ENST00000354841.4	+	8	1552	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	FMO1_ENST00000367750.3_Missense_Mutation_p.R474H|FMO1_ENST00000402921.2_Missense_Mutation_p.R411H|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	474			R -> H (in dbSNP:rs28360433). {ECO:0000269|Ref.2}.		NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TACCAGTTCCGCTTGACTGGC	0.498																																					p.R474H		.											.	FMO1-515	0			c.G1421A						.						115	103	107					1																	171254505		2203	4300	6503	SO:0001583	missense	2326	exon9			AGTTCCGCTTGAC	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1421G>A	1.37:g.171254505G>A	ENSP00000346901:p.Arg474His	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	99	14	NM_002021	0	0	0	0	0	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532165	0.85812	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.63580	-0.05;-0.05;-0.05	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	D	0.88258	0.2921	10	0.87932	D	0	-0.2348	14.3145	0.66440	0.0719:0.0:0.9281:0.0	rs28360433;rs28360433	411;474	B7Z3P4;Q01740	.;FMO1_HUMAN	H	474;411;474	ENSP00000356724:R474H;ENSP00000385543:R411H;ENSP00000346901:R474H	ENSP00000346901:R474H	R	+	2	0	FMO1	169521129	1.000000	0.71417	0.988000	0.46212	0.789000	0.44602	9.851000	0.99511	1.412000	0.46977	-0.259000	0.10710	CGC	G|0.994;A|0.006		0.498	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		A	171254505	G	A	171254505	3	1	54	1	0	0	0	0	1	0	0	0	5976	1087	38	1	1451	1	FMO1	1	171254505	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	9286813	171254505	77996116	11	11482											
HMCN1	83872	broad.mit.edu	37	chr1	185956605	185956605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagatactcagtacaAttgaaggcattccagtaact	9	9	1	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:185956605A>G	ENST00000271588.4	+	20	3206	c.2977A>G	c.(2977-2979)Att>Gtt	p.I993V	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.I993V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	993	Ig-like C2-type 7.				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						ACTCAGTACAATTGAAGGCAT	0.403																																					p.I993V		.											.	HMCN1-113	0			c.A2977G						.						166	163	164					1																	185956605		2203	4300	6503	SO:0001583	missense	83872	exon20			AGTACAATTGAAG	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.2977A>G	1.37:g.185956605A>G	ENSP00000271588:p.Ile993Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	63	3	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	8.793	0.931086	0.18131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052033	0.85682	D	0.000000	T	0.60932	0.2307	N	0.04260	-0.245	0.58432	D	0.999998	B;P	0.51653	0.083;0.947	B;D	0.66716	0.247;0.946	T	0.60105	-0.7328	10	0.11485	T	0.65	.	15.2902	0.73859	1.0:0.0:0.0:0.0	.	377;993	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	V	993	ENSP00000271588:I993V;ENSP00000356462:I993V	ENSP00000271588:I993V	I	+	1	0	HMCN1	184223228	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	5.747000	0.68689	2.021000	0.59480	0.528000	0.53228	ATT	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185956605	A	G	185956605	3	3	54	1	0	0	0	0	1	0	0	0	7247	101	4	4	3055	4	HMCN1	1	185956605	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	14702100	185956605	63294016	12	11483											
PM20D1	148811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	205797785	205797785	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaaactggctcctggtctGtgtcagcattctgaatcaac	10	10	4	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:205797785G>C	ENST00000367136.4	-	13	1516	c.1472C>G	c.(1471-1473)aCa>aGa	p.T491R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	491					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTCCTGGTCTGTGTCAGCATT	0.512																																					p.T491R		.											.	PM20D1-69	0			c.C1472G						.						153	138	143					1																	205797785		2203	4300	6503	SO:0001583	missense	148811	exon13			TGGTCTGTGTCAG		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1472C>G	1.37:g.205797785G>C	ENSP00000356104:p.Thr491Arg	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	54	9	NM_152491	0	0	0	0	0	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	g	15.33	2.801107	0.50315	.	.	ENSG00000162877	ENST00000367136	T	0.06687	3.27	6.06	-4.15	0.03881	.	0.777216	0.12788	N	0.439065	T	0.05547	0.0146	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.42344	-0.9457	10	0.19147	T	0.46	.	6.1532	0.20322	0.42:0.3674:0.2126:0.0	.	491	Q6GTS8	P20D1_HUMAN	R	491	ENSP00000356104:T491R	ENSP00000356104:T491R	T	-	2	0	PM20D1	204064408	0.000000	0.05858	0.001000	0.08648	0.639000	0.38242	-0.171000	0.09883	-0.290000	0.09025	0.655000	0.94253	ACA	.		0.512	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		C	205797785	G	C	205797785	3	2	54	1	0	0	0	0	1	0	0	0	12167	1377	48	3	40	3	PM20D1	1	205797785	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	19841180	205797785	43452836	13	11484											
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	247587746	247587746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacattctcctgagcaGcctcatcagaaagaagctgc	11	11	3	4			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr1:247587746G>A	ENST00000336119.3	+	3	1747	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	NLRP3_ENST00000366496.2_Missense_Mutation_p.S334N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S334N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.S334N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S334N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S334N	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	334	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCTGAGCAGCCTCATCAGA	0.587																																					p.S334N		.											.	NLRP3-674	0			c.G1001A						.						57	59	59					1																	247587746		2203	4300	6503	SO:0001583	missense	114548	exon3			TGAGCAGCCTCAT	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.1001G>A	1.37:g.247587746G>A	ENSP00000337383:p.Ser334Asn	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	84	28	NM_183395	0	0	0	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511495	0.64522	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.000000	0.64402	D	0.000007	T	0.81475	0.4830	L	0.41415	1.275	0.35497	D	0.799477	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.997;0.993;0.979;0.986;0.996	D	0.83490	0.0069	10	0.39692	T	0.17	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	334;334;334;334;334	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	334	ENSP00000375704:S334N;ENSP00000355453:S334N;ENSP00000337383:S334N;ENSP00000294752:S334N;ENSP00000355452:S334N;ENSP00000375703:S334N	ENSP00000337383:S334N	S	+	2	0	NLRP3	245654369	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.875000	0.63072	2.543000	0.85770	0.563000	0.77884	AGC	.		0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587746	G	A	247587746	3	1	54	1	0	0	0	0	1	0	0	0	10517	971	34	3	1011	3	NLRP3	1	247587746	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	41789961	247587746	1662875	14	11485											
DCTN1	1639	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	74588719	74588719	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagccgcacatgagaaggtCactttgcccatgtagactgt	10	12	1	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:74588719C>T	ENST00000361874.3	-	32	4061	c.3744G>A	c.(3742-3744)gtG>gtA	p.V1248V	DCTN1_ENST00000409567.3_Silent_p.V1223V|DCTN1_ENST00000409868.1_Silent_p.V1226V|RP11-287D1.3_ENST00000451608.2_Silent_p.V161V|DCTN1_ENST00000409438.1_Silent_p.V1109V|DCTN1_ENST00000394003.3_Silent_p.V1241V|DCTN1_ENST00000409240.1_Silent_p.V1206V|DCTN1_ENST00000407639.2_Silent_p.V1114V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1248					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATGAGAAGGTCACTTTGCCCA	0.577																																					p.V1248V		.											.	DCTN1-95	0			c.G3744A						.						147	119	128					2																	74588719		2203	4300	6503	SO:0001819	synonymous_variant	1639	exon32			GAAGGTCACTTTG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3744G>A	2.37:g.74588719C>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	34	6	NM_004082	1	0	24	54	29	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	CCDS1939.1																																																																																			.		0.577	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74588719	C	T	74588719	2	4	54	1	0	0	0	0	0	0	0	1	4315	813	29	3		3	DCTN1	2	74588719	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		74588719	168610654	15	11486											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84924798	84924798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactggagcaggttttagcgGccaccagaccaagagcaaaa	11	10	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:84924798G>T	ENST00000237449.6	+	46	7632	c.7624G>T	c.(7624-7626)Gcc>Tcc	p.A2542S	DNAH6_ENST00000602588.1_Missense_Mutation_p.A514S|DNAH6_ENST00000398278.2_Missense_Mutation_p.A2493S|DNAH6_ENST00000389394.3_Missense_Mutation_p.A2542S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2542	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGTTTTAGCGGCCACCAGACC	0.423																																					p.A2542S		.											.	DNAH6-69	0			c.G7624T						.						123	117	119					2																	84924798		692	1591	2283	SO:0001583	missense	1768	exon47			TTAGCGGCCACCA	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.7624G>T	2.37:g.84924798G>T	ENSP00000237449:p.Ala2542Ser	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	388	44	NM_001370	0	0	1	1	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225015	0.79576	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.39592	1.13;1.07;1.13	5.67	5.67	0.87782	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	.	.	.	.	T	0.42291	0.1196	L	0.33339	1.005	0.51012	D	0.999904	P;P	0.47191	0.891;0.778	P;P	0.49999	0.628;0.596	T	0.07654	-1.0761	9	0.09338	T	0.73	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	2542;2493	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	S	2542;2493;2542	ENSP00000374045:A2542S;ENSP00000381326:A2493S;ENSP00000237449:A2542S	ENSP00000237449:A2542S	A	+	1	0	DNAH6	84778309	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.607000	0.74163	2.682000	0.91365	0.484000	0.47621	GCC	.		0.423	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84924798	G	T	84924798	3	4	54	1	0	0	0	0	1	0	0	0	4619	1203	42	3	7806	3	DNAH6	2	84924798	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	10336079	84924798	158274575	16	11487											
ZRANB3	84083	broad.mit.edu;bcgsc.ca	37	chr2	135965341	135965341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtagagggcttcacaGtgagatctgcctggactgtg	15	7	2	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:135965341G>A	ENST00000264159.6	-	19	2788	c.2672C>T	c.(2671-2673)aCt>aTt	p.T891I	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.T889I|ZRANB3_ENST00000536680.1_Missense_Mutation_p.T889I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	891					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGGCTTCACAGTGAGATCTGC	0.423																																					p.T891I		.											.	ZRANB3-658	0			c.C2672T						.						108	102	104					2																	135965341		1940	4142	6082	SO:0001583	missense	84083	exon19			TTCACAGTGAGAT	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2672C>T	2.37:g.135965341G>A	ENSP00000264159:p.Thr891Ile	Somatic	69	2		WXS	Illumina GAIIx	Phase_I	66	28	NM_032143	0	0	1	1	0	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369182	0.24771	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90732	-2.72;-2.72;-2.71	6.03	1.03	0.20045	.	1.335270	0.04218	N	0.333011	D	0.85071	0.5613	L	0.41027	1.25	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.67150	-0.5743	10	0.46703	T	0.11	-20.2985	2.477	0.04578	0.2688:0.1173:0.4932:0.1208	.	891;889	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	354;354;889;891;889	ENSP00000383979:T889I;ENSP00000264159:T891I;ENSP00000441320:T889I	ENSP00000264159:T891I	T	-	2	0	ZRANB3	135681811	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.097000	0.15168	-0.082000	0.12640	0.655000	0.94253	ACT	.		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		A	135965341	G	A	135965341	3	1	54	1	0	0	0	0	1	0	0	0	18272	1029	36	3	579	3	ZRANB3	2	135965341	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	51040543	135965341	107234032	17	11488											
SP5	389058	hgsc.bcm.edu	37	chr2	171573185	171573185	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcaggccgcgctgccGccaggctactccaacctgct	13	18	0	0	rs1134626	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:171573185G>T	ENST00000375281.3	+	2	630	c.468G>T	c.(466-468)ccG>ccT	p.P156P	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	156					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P156P(1)		NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCGCGCTGCCGCCAGGCTACT	0.751													G|||	1034	0.20647	0.0242	0.2017	5008	,	,		6711	0.1815		0.3579	False		,,,				2504	0.3262				p.P156P		.											.	SP5-90	1	Substitution - coding silent(1)	NS(1)	c.G468T						.	G		219,2535		16,187,1174	5	6	6		468	-7.5	0.4	2	dbSNP_86	6	2090,4520		318,1454,1533	no	coding-synonymous	SP5	NM_001003845.2		334,1641,2707	TT,TG,GG		31.6188,7.9521,24.6583		156/399	171573185	2309,7055	1377	3305	4682	SO:0001819	synonymous_variant	389058	exon2			GCTGCCGCCAGGC		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.468G>T	2.37:g.171573185G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001003845	0	0	0	1	1		Silent	SNP	ENST00000375281.3	37	CCDS33322.1																																																																																			G|0.766;T|0.234		0.751	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		T	171573185	G	T	171573185	2	4	54	1	0	0	0	0	0	0	0	1	15012	1074	38	2		2	SP5	2	171573185	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	35607844	171573185	71626188	18	11489											
CLK1	1195	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	201719353	201719353	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgtacctggttttctgtatCatatgttttggtagaggtcc	10	7	2	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:201719353C>T	ENST00000321356.4	-	11	1341	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	CLK1_ENST00000434813.2_Missense_Mutation_p.M444I|CLK1_ENST00000409769.2_Missense_Mutation_p.M225I	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	402	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						TTTTCTGTATCATATGTTTTG	0.328																																					p.M444I		.											.	CLK1-784	0			c.G1332A						.						195	201	199					2																	201719353		2203	4300	6503	SO:0001583	missense	1195	exon11			CTGTATCATATGT	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.1206G>A	2.37:g.201719353C>T	ENSP00000326830:p.Met402Ile	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	53	6	NM_001162407	0	0	130	169	39	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078795	0.76528	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.65178	-0.14;-0.14;-0.14	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);	0.039831	0.85682	D	0.000000	T	0.68165	0.2971	N	0.21240	0.645	0.42599	D	0.993277	P;D;P;B	0.55605	0.742;0.972;0.742;0.181	P;P;P;B	0.62089	0.876;0.898;0.876;0.237	T	0.72090	-0.4395	10	0.87932	D	0	.	19.4145	0.94689	0.0:1.0:0.0:0.0	.	444;372;402;225	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	I	402;372;225;444	ENSP00000326830:M402I;ENSP00000386358:M225I;ENSP00000394734:M444I	ENSP00000326830:M402I	M	-	3	0	CLK1	201427598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.847000	0.55895	2.757000	0.94681	0.563000	0.77884	ATG	.		0.328	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			T	201719353	C	T	201719353	3	4	54	1	0	0	0	0	1	0	0	0	3543	826	29	3	260	3	CLK1	2	201719353	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	30146168	201719353	41480020	19	11490											
FAM124B	79843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	225266236	225266236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggagagagtccaggacgcGaaatagcctatcctctcccg	11	13	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:225266236G>A	ENST00000409685.3	-	1	515	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM124B_ENST00000389874.3_Missense_Mutation_p.R84C|FAM124B_ENST00000243806.2_Missense_Mutation_p.R84C	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	84										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCCAGGACGCGAAATAGCCTA	0.547																																					p.R84C		.											.	FAM124B-92	0			c.C250T						.						59	57	58					2																	225266236		2203	4300	6503	SO:0001583	missense	79843	exon1			GGACGCGAAATAG	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.250C>T	2.37:g.225266236G>A	ENSP00000386895:p.Arg84Cys	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	93	19	NM_024785	0	0	0	0	0	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501625	0.44455	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.47528	0.84;0.84;0.84	5.69	4.81	0.61882	.	0.522618	0.21107	N	0.080042	T	0.55545	0.1927	M	0.62723	1.935	0.19575	N	0.999969	D;P	0.60160	0.987;0.956	P;B	0.50049	0.629;0.401	T	0.54655	-0.8261	10	0.72032	D	0.01	-6.6696	14.7933	0.69860	0.0693:0.0:0.9307:0.0	.	84;84	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	C	84	ENSP00000374524:R84C;ENSP00000386895:R84C;ENSP00000243806:R84C	ENSP00000243806:R84C	R	-	1	0	FAM124B	224974480	0.648000	0.27313	0.002000	0.10522	0.001000	0.01503	4.069000	0.57541	1.400000	0.46741	0.655000	0.94253	CGC	.		0.547	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		A	225266236	G	A	225266236	3	1	54	1	0	0	0	0	1	0	0	0	5445	1058	37	1	1216	1	FAM124B	2	225266236	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	23546883	225266236	17933137	20	11491											
KLHL30	377007	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	239059526	239059526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgctgtacgtgacgggCggccgctggcagggcatgga	19	10	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr2:239059526C>T	ENST00000409223.1	+	8	1664	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	KLHL30_ENST00000305959.4_Silent_p.G501G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	519										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACGTGACGGGCGGCCGCTGGC	0.677																																					p.G519G		.											.	KLHL30-22	0			c.C1557T						.						18	25	23					2																	239059526		2175	4258	6433	SO:0001819	synonymous_variant	377007	exon8			GACGGGCGGCCGC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1557C>T	2.37:g.239059526C>T		Somatic	236	1		WXS	Illumina GAIIx	Phase_I	155	21	NM_198582	0	0	0	0	0	Q6ZUS1	Silent	SNP	ENST00000409223.1	37	CCDS46555.2																																																																																			.		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		T	239059526	C	T	239059526	2	4	54	1	0	0	0	0	0	0	0	1	8411	755	27	1		1	KLHL30	2	239059526	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	13793290	239059526	4139847	21	11492											
STAB1	23166	broad.mit.edu	37	chr3	52546974	52546974	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgccgaacctggtcaGgtggggccgccattgccagg	16	13	1	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr3:52546974G>T	ENST00000321725.6	+	29	3234	c.3158G>T	c.(3157-3159)aGg>aTg	p.R1053M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1053	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, 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)		AACCTGGTCAGGTGGGGCCGC	0.687																																					p.R1053M		.											.	STAB1-139	0			c.G3158T						.						12	15	14					3																	52546974		2193	4280	6473	SO:0001630	splice_region_variant	23166	exon29			TGGTCAGGTGGGG	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.3158+1G>T	3.37:g.52546974G>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	86	3	NM_015136	0	0	1	1	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524933	0.64747	.	.	ENSG00000010327	ENST00000321725	D	0.90788	-2.73	5.84	5.84	0.93424	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.64567	1.98	0.54753	D	0.999989	D	0.89917	1.0	D	0.81914	0.995	D	0.93526	0.6865	10	0.44086	T	0.13	.	17.9316	0.88999	0.0:0.0:1.0:0.0	.	1053	Q9NY15	STAB1_HUMAN	M	1053	ENSP00000312946:R1053M	ENSP00000312946:R1053M	R	+	2	0	STAB1	52522014	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.914000	0.75764	2.769000	0.95229	0.563000	0.77884	AGG	.		0.687	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	T	52546974	G	T	52546974	5	4	54	1	0	0	0	0	0	0	1	0	15284	1014	35	3	3272	3	STAB1	3	52546974	Splice_Site	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		52546974	145475456	22	11493											
DZIP3	9666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	108407467	108407467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcagtgtcaaatgttAattgtgtttcacctagtcat	7	6	4	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr3:108407467A>G	ENST00000361582.3	+	30	3528	c.3298A>G	c.(3298-3300)Aat>Gat	p.N1100D	DZIP3_ENST00000463306.1_Missense_Mutation_p.N1100D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1100					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						GTCAAATGTTAATTGTGTTTC	0.418																																					p.N1100D		.											.	DZIP3-91	0			c.A3298G						.						74	72	73					3																	108407467		2203	4300	6503	SO:0001583	missense	9666	exon30			AATGTTAATTGTG	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.3298A>G	3.37:g.108407467A>G	ENSP00000355028:p.Asn1100Asp	Somatic	260	0		WXS	Illumina GAIIx	Phase_I	179	95	NM_014648	0	0	3	9	6	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303523	0.10678	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.17054	2.3;2.3	5.05	3.91	0.45181	.	0.319079	0.27202	N	0.020451	T	0.07908	0.0198	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.31280	-0.9949	10	0.17369	T	0.5	-14.2268	6.919	0.24376	0.9001:0.0:0.0999:0.0	.	718;1100	D3DN61;Q86Y13	.;DZIP3_HUMAN	D	1100	ENSP00000355028:N1100D;ENSP00000419981:N1100D	ENSP00000355028:N1100D	N	+	1	0	DZIP3	109890157	0.003000	0.15002	0.053000	0.19242	0.981000	0.71138	1.147000	0.31602	2.243000	0.73865	0.533000	0.62120	AAT	.		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		G	108407467	A	G	108407467	3	3	54	1	0	0	0	0	1	0	0	0	4879	362	13	4	3412	4	DZIP3	3	108407467	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	55860493	108407467	89614963	23	11494											
PODXL2	50512	broad.mit.edu;bcgsc.ca	37	chr3	127379708	127379708	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggcttggggtagagttCgaggctcctcaggaagcaag	17	8	1	1	rs114235935	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr3:127379708C>T	ENST00000342480.6	+	3	876	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	279					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGTAGAGTTCGAGGCTCCTC	0.617													C|||	4	0.000798722	0	0	5008	,	,		17851	0.001		0.002	False		,,,				2504	0.001				p.F279F		.											.	PODXL2-91	0			c.C837T						.	C		1,4405	2.1+/-5.4	0,1,2202	35	38	37		837	-4.3	0	3	dbSNP_132	37	35,8565	23.4+/-69.3	0,35,4265	no	coding-synonymous	PODXL2	NM_015720.2		0,36,6467	TT,TC,CC		0.407,0.0227,0.2768		279/606	127379708	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	50512	exon3			AGAGTTCGAGGCT	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.837C>T	3.37:g.127379708C>T		Somatic	112	0		WXS	Illumina GAIIx	Phase_I	80	14	NM_015720	0	0	9	12	3	Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	CCDS3044.1																																																																																			C|0.997;T|0.003		0.617	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		T	127379708	C	T	127379708	2	4	54	1	0	0	0	0	0	0	0	1	12220	883	31	1		1	PODXL2	3	127379708	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	18972241	127379708	70642722	24	11495											
CP	1356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	148896230	148896230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttattgctttctatgaattcCtcatcatctttgtttacttt	3	8	4	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr3:148896230C>G	ENST00000264613.6	-	16	3112	c.2850G>C	c.(2848-2850)gaG>gaC	p.E950D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	950	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)	CTATGAATTCCTCATCATCTT	0.294																																					p.E950D		.											.	CP-515	0			c.G2850C						.						123	114	117					3																	148896230		2201	4300	6501	SO:0001583	missense	1356	exon16			GAATTCCTCATCA	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.2850G>C	3.37:g.148896230C>G	ENSP00000264613:p.Glu950Asp	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_000096	0	0	4	4	0	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068745	0.20147	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99751	-6.63;-6.63;-6.63	5.68	-11.4	0.00090	Cupredoxin (2);	0.208186	0.49305	N	0.000141	D	0.97567	0.9203	L	0.37850	1.14	0.31835	N	0.624248	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	D	0.88039	0.2780	10	0.17369	T	0.5	-5.7476	7.8359	0.29369	0.5022:0.1773:0.0:0.3205	.	950;950;950;663	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	D	85;950;733	ENSP00000420367:E85D;ENSP00000264613:E950D;ENSP00000420545:E733D	ENSP00000264613:E950D	E	-	3	2	CP	150378920	0.001000	0.12720	0.008000	0.14137	0.903000	0.53119	-1.285000	0.02791	-3.331000	0.00185	-1.036000	0.02392	GAG	.		0.294	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		G	148896230	C	G	148896230	3	3	54	1	0	0	0	0	1	0	0	0	3794	680	24	3	363	3	CP	3	148896230	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	21516522	148896230	49126200	25	11496											
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164908554	164908554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccatcctagagcaattGtgcttagaagaattatccac	7	9	0	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr3:164908554G>A	ENST00000475390.1	-	2	508	c.65C>T	c.(64-66)aCa>aTa	p.T22I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.T22I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	22					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGAGCAATTGTGCTTAGAAG	0.418										HNSCC(40;0.11)																											p.T22I		.											.	SLITRK3-100	0			c.C65T						.						98	91	93					3																	164908554		2201	4300	6501	SO:0001583	missense	22865	exon2			GCAATTGTGCTTA	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.65C>T	3.37:g.164908554G>A	ENSP00000420091:p.Thr22Ile	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	67	15	NM_014926	0	0	0	0	0	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025435	0.54683	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.69306	0.6;0.6;-0.39	6.01	6.01	0.97437	.	0.000000	0.38897	N	0.001521	T	0.66790	0.2825	N	0.20685	0.6	0.45295	D	0.998299	D	0.64830	0.994	P	0.53266	0.722	T	0.68062	-0.5508	10	0.51188	T	0.08	-3.0494	20.5182	0.99214	0.0:0.0:1.0:0.0	.	22	O94933	SLIK3_HUMAN	I	22	ENSP00000420091:T22I;ENSP00000241274:T22I;ENSP00000419611:T22I	ENSP00000241274:T22I	T	-	2	0	SLITRK3	166391248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.860000	0.98153	0.655000	0.94253	ACA	.		0.418	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		A	164908554	G	A	164908554	3	1	54	1	0	0	0	0	1	0	0	0	14789	1377	48	3	2872	3	SLITRK3	3	164908554	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	16012324	164908554	33113876	26	11497											
RFC1	5981	broad.mit.edu;bcgsc.ca	37	chr4	39310527	39310528	+	Frame_Shift_Ins	INS	-	-	A													ccttttttattgtctttgccINSaaactgtcccttttggaagt							TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr4:39310527_39310528insA	ENST00000381897.1	-	13	1746_1747	c.1613_1614insT	c.(1612-1614)ttgfs	p.L538fs	RFC1_ENST00000349703.2_Frame_Shift_Ins_p.L538fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	538					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGTCTTTGCCAAACTGTCCCT	0.406																																					p.L538fs	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	.											.	RFC1-230	0			c.1614_1615insT						.																																			SO:0001589	frameshift_variant	5981	exon13			CTTTGCCAAACTG	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1614dupT	4.37:g.39310530_39310530dupA	ENSP00000371321:p.Leu538fs	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	78	9	NM_002913	0	0	0	0	0	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Ins	INS	ENST00000381897.1	37	CCDS56329.1																																																																																			.		0.406	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		A	39310528	-	A	39310527	7	5	54	1	0	1	1	0	0	0	0	0	13289	593	21	0	1881	0	RFC1	4	39310527	Frame_Shift_Ins	INS	-	TCGA-OR-A5LL-01A-11D-A29I-10		39310527	151843749	27	11498											
CHRNA9	55584	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	40337918	40337918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagattattctaatgctcttCgtccagtggaagatacagat	8	7	2	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr4:40337918C>T	ENST00000310169.2	+	2	278	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	47					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TAATGCTCTTCGTCCAGTGGA	0.423																																					p.R47C	Esophageal Squamous(115;1297 1602 22235 25158 43327)	.											.	CHRNA9-96	0			c.C139T						.						176	164	168					4																	40337918		2203	4300	6503	SO:0001583	missense	55584	exon2			GCTCTTCGTCCAG	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.139C>T	4.37:g.40337918C>T	ENSP00000312663:p.Arg47Cys	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	144	8	NM_017581	0	0	0	0	0	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599831	0.66332	.	.	ENSG00000174343	ENST00000310169	D	0.83506	-1.73	5.76	4.84	0.62591	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096897	0.64402	D	0.000002	D	0.94374	0.8191	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95640	0.8697	10	0.87932	D	0	.	13.4791	0.61326	0.2345:0.7655:0.0:0.0	.	47	Q9UGM1	ACHA9_HUMAN	C	47	ENSP00000312663:R47C	ENSP00000312663:R47C	R	+	1	0	CHRNA9	40032675	0.998000	0.40836	0.999000	0.59377	0.707000	0.40811	1.996000	0.40776	2.733000	0.93635	0.467000	0.42956	CGT	.		0.423	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			T	40337918	C	T	40337918	3	4	54	1	0	0	0	0	1	0	0	0	3396	884	31	1	145	1	CHRNA9	4	40337918	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	1027391	40337918	150816358	28	11499											
FRAS1	80144	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	79328954	79328954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcatcgtatggtacaggCactcaggagccccagcccag	12	13	1	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr4:79328954C>T	ENST00000325942.6	+	31	4707	c.4267C>T	c.(4267-4269)Cac>Tac	p.H1423Y	FRAS1_ENST00000264895.6_Missense_Mutation_p.H1423Y	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1423					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						ATGGTACAGGCACTCAGGAGC	0.557																																					p.H1423Y		.											.	FRAS1-68	0			c.C4267T						.						71	79	77					4																	79328954		2115	4231	6346	SO:0001583	missense	80144	exon31			TACAGGCACTCAG	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.4267C>T	4.37:g.79328954C>T	ENSP00000326330:p.His1423Tyr	Somatic	172	1		WXS	Illumina GAIIx	Phase_I	126	41	NM_001166133	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156834	0.78114	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.42900	0.96;0.96	5.67	5.67	0.87782	.	0.054051	0.64402	D	0.000001	T	0.67458	0.2895	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.63597	0.869;0.916	T	0.71882	-0.4458	10	0.87932	D	0	.	18.7528	0.91821	0.0:1.0:0.0:0.0	.	1423;1423	E9PHH6;A2RRR8	.;.	Y	1423	ENSP00000326330:H1423Y;ENSP00000264895:H1423Y	ENSP00000264895:H1423Y	H	+	1	0	FRAS1	79547978	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.397000	0.66302	2.671000	0.90904	0.585000	0.79938	CAC	.		0.557	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79328954	C	T	79328954	3	4	54	1	0	0	0	0	1	0	0	0	6066	710	25	3	4389	3	FRAS1	4	79328954	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	38991036	79328954	111825322	29	11500											
DSPP	1834	bcgsc.ca	37	chr4	88536999	88536999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatagcagtgacagcagtgAcagcagcgacagcagtgata	12	9	0	3	rs202222170		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr4:88536999A>G	ENST00000282478.7	+	4	3218	c.3185A>G	c.(3184-3186)gAc>gGc	p.D1062G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1062G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1062	Asp/Ser-rich.			D -> G (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagtgacagcagcgac	0.532																																					p.D1062G		.											.	DSPP-90	0			c.A3185G						.						48	61	56					4																	88536999		1554	2803	4357	SO:0001583	missense	1834	exon5			GCAGTGACAGCAG	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.3185A>G	4.37:g.88536999A>G	ENSP00000282478:p.Asp1062Gly	Somatic	452	0		WXS	Illumina GAIIx	Phase_I	356	17	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503863	0.12822	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	1.51	1.51	0.23008	.	.	.	.	.	D	0.87716	0.6247	L	0.29908	0.895	0.21762	N	0.99955	D	0.76494	0.999	D	0.74023	0.982	T	0.76072	-0.3093	9	0.24483	T	0.36	.	5.1866	0.15187	1.0:0.0:0.0:0.0	.	1062	Q9NZW4	DSPP_HUMAN	G	1062	ENSP00000382213:D1062G;ENSP00000282478:D1062G	ENSP00000282478:D1062G	D	+	2	0	DSPP	88756023	0.386000	0.25180	0.936000	0.37596	0.006000	0.05464	2.307000	0.43682	0.963000	0.38082	0.242000	0.17961	GAC	.		0.532	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		G	88536999	A	G	88536999	3	3	54	1	0	0	0	0	1	0	0	0	4796	275	10	4	3199	4	DSPP	4	88536999	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	9208045	88536999	102617277	30	11501											
FBXL7	23194	bcgsc.ca	37	chr5	15937010	15937010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccacggtgtggagtacctCgccaagaactgcaccaaact	10	13	0	1	rs61748187	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:15937010C>T	ENST00000504595.1	+	4	1672	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.L350L|FBXL7_ENST00000329673.7_Silent_p.L385L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	397					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGAGTACCTCGCCAAGAACT	0.602													C|||	51	0.0101837	0.0015	0.013	5008	,	,		20130	0		0.0318	False		,,,				2504	0.0082				p.L397L		.											.	FBXL7-228	0			c.C1191T						.	C		27,4305		0,27,2139	97	104	102		1191	-7.5	0.9	5	dbSNP_129	102	274,8230		6,262,3984	no	coding-synonymous	FBXL7	NM_012304.3		6,289,6123	TT,TC,CC		3.222,0.6233,2.345		397/492	15937010	301,12535	2166	4252	6418	SO:0001819	synonymous_variant	23194	exon4			GTACCTCGCCAAG	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1191C>T	5.37:g.15937010C>T		Somatic	128	1		WXS	Illumina GAIIx	Phase_I	122	5	NM_012304	0	0	7	7	0	B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	CCDS54833.1																																																																																			C|0.982;T|0.018		0.602	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15937010	C	T	15937010	2	4	54	1	0	0	0	0	0	0	0	1	5746	871	31	1		1	FBXL7	5	15937010	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		15937010	164978250	31	11502											
LOX	4015	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	121405754	121405754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaataacacttacggtgaaAttgtgcagcctgaggcatac	9	9	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:121405754A>C	ENST00000231004.4	-	6	1540	c.1241T>G	c.(1240-1242)aTt>aGt	p.I414S	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	414	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TTACGGTGAAATTGTGCAGCC	0.398																																					p.I414S		.											.	LOX-650	0			c.T1241G						.						112	105	107					5																	121405754		2203	4300	6503	SO:0001583	missense	4015	exon6			GGTGAAATTGTGC		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.1241T>G	5.37:g.121405754A>C	ENSP00000231004:p.Ile414Ser	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	247	16	NM_002317	0	0	0	0	0	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647175	0.87958	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.36699	1.24	5.33	5.33	0.75918	.	0.100076	0.64402	D	0.000001	T	0.58807	0.2148	M	0.72479	2.2	0.58432	D	0.999992	D	0.60160	0.987	D	0.67231	0.95	T	0.63444	-0.6636	10	0.87932	D	0	.	15.5949	0.76572	1.0:0.0:0.0:0.0	.	414	P28300	LYOX_HUMAN	S	414;374	ENSP00000231004:I414S	ENSP00000231004:I414S	I	-	2	0	LOX	121433653	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	6.214000	0.72200	2.134000	0.65973	0.460000	0.39030	ATT	.		0.398	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			C	121405754	A	C	121405754	3	2	54	1	0	0	0	0	1	0	0	0	8933	101	4	5	20	5	LOX	5	121405754	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	105468744	121405754	59509506	32	11503											
PHAX	51808	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	125939673	125939673	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatctcaagagcatacaaaaGatctagacaaggaactagat	7	7	2	4			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:125939673G>C	ENST00000297540.4	+	2	1203	c.508G>C	c.(508-510)Gat>Cat	p.D170H	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	170	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCATACAAAAGATCTAGACAA	0.413																																					p.D170H		.											.	PHAX-90	0			c.G508C						.						85	81	82					5																	125939673		2203	4300	6503	SO:0001583	missense	51808	exon2			ACAAAAGATCTAG	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.508G>C	5.37:g.125939673G>C	ENSP00000297540:p.Asp170His	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	268	16	NM_032177	0	0	51	51	0	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246848	0.39697	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.22134	1.97	5.74	3.49	0.39957	.	0.354823	0.34750	N	0.003706	T	0.09686	0.0238	N	0.14661	0.345	0.25999	N	0.982145	P	0.34837	0.472	B	0.33960	0.173	T	0.10291	-1.0636	10	0.49607	T	0.09	-20.6667	2.7803	0.05359	0.2536:0.2824:0.464:0.0	.	170	Q9H814	PHAX_HUMAN	H	170;135	ENSP00000297540:D170H	ENSP00000297540:D170H	D	+	1	0	PHAX	125967572	1.000000	0.71417	0.967000	0.41034	0.827000	0.46813	3.680000	0.54641	2.715000	0.92844	0.655000	0.94253	GAT	.		0.413	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		C	125939673	G	C	125939673	3	2	54	1	0	0	0	0	1	0	0	0	11852	942	33	3	514	3	PHAX	5	125939673	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	4533919	125939673	54975587	33	11504			1	54		4	4	153	G		1.992045e-11
PHAX	51808	broad.mit.edu;bcgsc.ca	37	chr5	125939735	125939735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgggatcaaaggaagaGgaaaatgggcaaggtcatct	13	4	3	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:125939735G>C	ENST00000297540.4	+	2	1265	c.570G>C	c.(568-570)gaG>gaC	p.E190D	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	190	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CAAAGGAAGAGGAAAATGGGC	0.418																																					p.E190D		.											.	PHAX-90	0			c.G570C						.						70	67	68					5																	125939735		2203	4300	6503	SO:0001583	missense	51808	exon2			GGAAGAGGAAAAT	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.570G>C	5.37:g.125939735G>C	ENSP00000297540:p.Glu190Asp	Somatic	85	1		WXS	Illumina GAIIx	Phase_I	295	23	NM_032177	0	0	85	85	0	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886931	0.33348	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.23754	1.89	5.74	2.96	0.34315	.	0.238942	0.48767	N	0.000172	T	0.20129	0.0484	L	0.59436	1.845	0.32318	N	0.56283	B	0.09022	0.002	B	0.12156	0.007	T	0.14727	-1.0462	10	0.21540	T	0.41	-26.1885	4.2251	0.10577	0.1882:0.1089:0.591:0.1119	.	190	Q9H814	PHAX_HUMAN	D	190;155	ENSP00000297540:E190D	ENSP00000297540:E190D	E	+	3	2	PHAX	125967634	0.518000	0.26234	1.000000	0.80357	0.990000	0.78478	-0.292000	0.08332	0.762000	0.33152	0.655000	0.94253	GAG	.		0.418	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		C	125939735	G	C	125939735	3	2	54	1	0	0	0	0	1	0	0	0	11852	991	35	3	576	3	PHAX	5	125939735	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	62	125939735	54975525	34	11505			1	54		4	4	153	G		1.992045e-11
PHAX	51808	broad.mit.edu;bcgsc.ca	37	chr5	125939799	125939799	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaggctagggaacagaccaGaaatgaactataaaggtcga	11	7	0	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:125939799G>C	ENST00000297540.4	+	2	1329	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	212	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GAACAGACCAGAAATGAACTA	0.408																																					p.E212Q		.											.	PHAX-90	0			c.G634C						.						57	54	55					5																	125939799		2203	4300	6503	SO:0001583	missense	51808	exon2			AGACCAGAAATGA	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.634G>C	5.37:g.125939799G>C	ENSP00000297540:p.Glu212Gln	Somatic	107	1		WXS	Illumina GAIIx	Phase_I	324	18	NM_032177	0	0	79	79	0	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348139	0.82132	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.46819	0.86	5.74	5.74	0.90152	.	0.094116	0.64402	D	0.000001	T	0.55721	0.1938	M	0.64997	1.995	0.58432	D	0.999997	P	0.40302	0.712	P	0.44394	0.448	T	0.53528	-0.8426	10	0.42905	T	0.14	-8.9414	19.9279	0.97110	0.0:0.0:1.0:0.0	.	212	Q9H814	PHAX_HUMAN	Q	212;177	ENSP00000297540:E212Q	ENSP00000297540:E212Q	E	+	1	0	PHAX	125967698	1.000000	0.71417	0.950000	0.38849	0.846000	0.48090	7.893000	0.87330	2.715000	0.92844	0.655000	0.94253	GAA	.		0.408	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		C	125939799	G	C	125939799	3	2	54	1	0	0	0	0	1	0	0	0	11852	943	33	3	640	3	PHAX	5	125939799	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	64	125939799	54975461	35	11506			1	54		4	4	153	G		1.992045e-11
PHAX	51808	broad.mit.edu;bcgsc.ca	37	chr5	125939825	125939825	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactataaaggtcgatacgaGatcacagcggaagattctca	9	8	2	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:125939825G>A	ENST00000297540.4	+	2	1355	c.660G>A	c.(658-660)gaG>gaA	p.E220E		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	220	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GTCGATACGAGATCACAGCGG	0.408																																					p.E220E		.											.	PHAX-90	0			c.G660A						.						57	54	55					5																	125939825		2203	4300	6503	SO:0001819	synonymous_variant	51808	exon2			ATACGAGATCACA	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.660G>A	5.37:g.125939825G>A		Somatic	125	1		WXS	Illumina GAIIx	Phase_I	318	22	NM_032177	0	0	116	116	0	Q9H8W1	Silent	SNP	ENST00000297540.4	37	CCDS4138.1																																																																																			.		0.408	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		A	125939825	G	A	125939825	2	1	54	1	0	0	0	0	0	0	0	1	11852	933	33	3		3	PHAX	5	125939825	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	26	125939825	54975435	36	11507			1	54		4	4	153	G		1.992045e-11
CDKN2AIPNL	91368	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	133745680	133745680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcaccttgtctaaaaGgtctttattgtaactgcaca	5	10	3	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:133745680G>C	ENST00000458198.2	-	2	296	c.253C>G	c.(253-255)Ctt>Gtt	p.L85V		NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	85										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTAAAAGGTCTTTATTG	0.353																																					p.L85V		.											.	CDKN2AIPNL-68	0			c.C253G						.						91	86	87					5																	133745680		2203	4300	6503	SO:0001583	missense	91368	exon2			CTAAAAGGTCTTT	BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.253C>G	5.37:g.133745680G>C	ENSP00000394183:p.Leu85Val	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	103	11	NM_080656	0	0	23	23	0	Q8WVE3	Missense_Mutation	SNP	ENST00000458198.2	37	CCDS4175.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031074	0.35797	.	.	ENSG00000237190	ENST00000458198	.	.	.	5.34	4.46	0.54185	.	0.073365	0.56097	D	0.000031	T	0.35480	0.0933	N	0.12569	0.235	0.80722	D	1	D	0.57257	0.979	P	0.53185	0.72	T	0.07829	-1.0752	9	0.06757	T	0.87	-5.7184	12.126	0.53917	0.0867:0.0:0.9133:0.0	.	85	Q96HQ2	C2AIL_HUMAN	V	85	.	ENSP00000394183:L85V	L	-	1	0	CDKN2AIPNL	133773579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.508000	0.67006	2.675000	0.91044	0.462000	0.41574	CTT	.		0.353	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251171.2	NM_080656		C	133745680	G	C	133745680	3	2	54	1	0	0	0	0	1	0	0	0	3170	1000	35	3	105	3	CDKN2AIPNL	5	133745680	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	7805855	133745680	47169580	37	11508											
KLHL3	26249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	137056267	137056267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagagtctgggagctcagCttgacactgtgaacaggaag	13	8	3	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:137056267C>T	ENST00000309755.4	-	2	464	c.21G>A	c.(19-21)aaG>aaA	p.K7K	KLHL3_ENST00000508657.1_5'UTR|KLHL3_ENST00000394937.3_Silent_p.K7K	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	7					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)		GGGAGCTCAGCTTGACACTGT	0.498																																					p.K7K		.											.	KLHL3-90	0			c.G21A						.						128	114	119					5																	137056267		2203	4300	6503	SO:0001819	synonymous_variant	26249	exon2			GCTCAGCTTGACA	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.21G>A	5.37:g.137056267C>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	90	13	NM_017415	0	0	0	0	0	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	CCDS4192.1																																																																																			.		0.498	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			T	137056267	C	T	137056267	2	4	54	1	0	0	0	0	0	0	0	1	8410	796	28	3		3	KLHL3	5	137056267	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	3310587	137056267	43858993	38	11509											
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140731780	140731780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacagccgccactctcCgccaccgccacgctgcacct	10	20	1	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:140731780C>T	ENST00000523390.1	+	1	1953	c.1953C>T	c.(1951-1953)tcC>tcT	p.S651S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA3_ENST00000253812.6_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	651	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)			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)			CGCCACTCTCCGCCACCGCCA	0.687																																					p.S651S		.											.	PCDHGB1-33	0			c.C1953T						.						47	55	53					5																	140731780		2154	4251	6405	SO:0001819	synonymous_variant	56104	exon1			ACTCTCCGCCACC	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.1953C>T	5.37:g.140731780C>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	57	12	NM_018922	0	0	6	6	0	Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	CCDS54923.1																																																																																			.		0.687	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		T	140731780	C	T	140731780	2	4	54	1	0	0	0	0	0	0	0	1	11601	639	23	1		1	PCDHGB1	5	140731780	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	3675513	140731780	40183480	39	11510											
PCDHGB2	56103	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140741378	140741378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgacctcaatgacaatgCgccacgggtgctgtaccccg	13	14	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:140741378C>T	ENST00000522605.1	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAATGCGCCACGGGTG	0.692																																					p.A559V		.											.	PCDHGB2-33	0			c.C1676T						.						32	39	37					5																	140741378		2091	4229	6320	SO:0001583	missense	56103	exon1			ACAATGCGCCACG	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1676C>T	5.37:g.140741378C>T	ENSP00000429018:p.Ala559Val	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	113	17	NM_018923	0	0	1	1	0	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872463	0.33069	.	.	ENSG00000253910	ENST00000522605	T	0.02656	4.21	5.11	3.31	0.37934	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.10078	0.0247	L	0.57536	1.79	0.22835	N	0.998673	D;D	0.71674	0.998;0.97	P;P	0.62491	0.903;0.604	T	0.09314	-1.0680	9	0.54805	T	0.06	.	11.5341	0.50626	0.0:0.7839:0.0:0.2161	.	559;559	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	559	ENSP00000429018:A559V	ENSP00000429018:A559V	A	+	2	0	PCDHGB2	140721562	0.035000	0.19736	0.845000	0.33349	0.005000	0.04900	3.123000	0.50453	0.267000	0.21916	-1.641000	0.00772	GCG	.		0.692	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		T	140741378	C	T	140741378	3	4	54	1	0	0	0	0	1	0	0	0	11602	768	27	1	1678	1	PCDHGB2	5	140741378	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	9598	140741378	40173882	40	11511											
RASGEF1C	255426	bcgsc.ca	37	chr5	179563435	179563435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcccgatagtcgactcTtcctggaagtcccttgggaa	12	11	1	0	rs11546322	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr5:179563435T>C	ENST00000393371.2	-	3	677	c.381A>G	c.(379-381)gaA>gaG	p.E127E	RASGEF1C_ENST00000361132.4_Silent_p.E127E|RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	127	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTCGACTCTTCCTGGAAGT	0.682													C|||	2335	0.466254	0.2595	0.5432	5008	,	,		13834	0.7113		0.3857	False		,,,				2504	0.5215				p.E127E		.											.	RASGEF1C-228	0			c.A381G						.	C		1217,3105		198,821,1142	54	44	47		381	0.2	1	5	dbSNP_120	47	3063,5459		613,1837,1811	no	coding-synonymous	RASGEF1C	NM_175062.3		811,2658,2953	CC,CT,TT		35.9423,28.1583,33.323		127/467	179563435	4280,8564	2161	4261	6422	SO:0001819	synonymous_variant	255426	exon4			CGACTCTTCCTGG	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.381A>G	5.37:g.179563435T>C		Somatic	280	1		WXS	Illumina GAIIx	Phase_I	314	11	NM_175062	0	0	0	0	0	D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	CCDS4452.1																																																																																			T|0.588;C|0.412		0.682	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		C	179563435	T	C	179563435	2	2	54	1	0	0	0	0	0	0	0	1	13116	1606	56	4		4	RASGEF1C	5	179563435	Silent	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	38822057	179563435	1351825	41	11512											
E2F3	1871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	20488470	20488470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaatatccctaaacccGcttccaaaggtaaaaactcc	6	12	0	0	rs147333935	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr6:20488470G>A	ENST00000346618.3	+	6	1192	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	E2F3_ENST00000535432.1_Missense_Mutation_p.A245T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	376					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A376T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCCTAAACCCGCTTCCAAAGG	0.408																																					p.A376T		.											.	E2F3-414	1	Substitution - Missense(1)	lung(1)	c.G1126A						.	G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	97	93	95		1126	-0.8	0.9	6	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	E2F3	NM_001949.4	58	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	376/466	20488470	3,13003	2203	4300	6503	SO:0001583	missense	1871	exon6			AAACCCGCTTCCA	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1126G>A	6.37:g.20488470G>A	ENSP00000262904:p.Ala376Thr	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	78	14	NM_001949	0	0	0	0	0	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	9.680	1.149027	0.21288	4.54E-4	1.16E-4	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.06687	3.27;3.27	5.91	-0.816	0.10839	.	0.764210	0.12639	N	0.451509	T	0.01189	0.0039	L	0.32530	0.975	0.25279	N	0.989452	B	0.09022	0.002	B	0.01281	0.0	T	0.48758	-0.9007	10	0.13108	T	0.6	.	1.1125	0.01707	0.4251:0.2375:0.124:0.2134	.	376	O00716	E2F3_HUMAN	T	376;245	ENSP00000262904:A376T;ENSP00000443418:A245T	ENSP00000262904:A376T	A	+	1	0	E2F3	20596449	0.999000	0.42202	0.950000	0.38849	0.979000	0.70002	1.203000	0.32284	-0.338000	0.08413	-0.351000	0.07748	GCT	G|0.999;A|0.001		0.408	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			A	20488470	G	A	20488470	3	1	54	1	0	0	0	0	1	0	0	0	4882	1087	38	1	1148	1	E2F3	6	20488470	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		20488470	150626597	42	11513											
OR2B6	26212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27925596	27925596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatcttgtgttgagacaaCagcaaatgaggctgaactat	10	6	1	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr6:27925596C>T	ENST00000244623.1	+	1	578	c.578C>T	c.(577-579)aCa>aTa	p.T193I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTGAGACAACAGCAAATGAG	0.448																																					p.T193I		.											.	OR2B6-69	0			c.C578T						.						184	181	182					6																	27925596		2203	4300	6503	SO:0001583	missense	26212	exon1			AGACAACAGCAAA	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.578C>T	6.37:g.27925596C>T	ENSP00000244623:p.Thr193Ile	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	129	54	NM_012367	0	0	0	0	0	O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.705	0.498672	0.12762	.	.	ENSG00000124657	ENST00000244623	T	0.00091	8.74	3.55	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.501626	0.14698	U	0.303748	T	0.00039	0.0001	L	0.28400	0.85	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.34601	-0.9822	10	0.39692	T	0.17	.	4.7812	0.13202	0.0:0.6124:0.0:0.3876	.	193	P58173	OR2B6_HUMAN	I	193	ENSP00000244623:T193I	ENSP00000244623:T193I	T	+	2	0	OR2B6	28033575	0.000000	0.05858	0.852000	0.33557	0.697000	0.40408	-0.751000	0.04803	0.761000	0.33130	0.467000	0.42956	ACA	.		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			T	27925596	C	T	27925596	3	4	54	1	0	0	0	0	1	0	0	0	11030	478	17	3	580	3	OR2B6	6	27925596	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	7437126	27925596	143189471	43	11514											
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	102511871	102511871	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttagtgccaccataccatcCagacactgtttagtaatctt	6	11	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr6:102511871C>A	ENST00000421544.1	+	16	3052				GRIK2_ENST00000369134.4_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.P866Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.P866Q|GRIK2_ENST00000369138.1_Intron|GRIK2_ENST00000369137.3_Intron	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)	p.P866L(1)		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)	CCATACCATCCAGACACTGTT	0.289																																					p.P866Q		.											.	GRIK2-157	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.C2597A						.						72	70	71					6																	102511871		2201	4292	6493	SO:0001627	intron_variant	2898	exon16			ACCATCCAGACAC		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.2563-4351C>A	6.37:g.102511871C>A		Somatic	212	0		WXS	Illumina GAIIx	Phase_I	171	42	NM_175768	0	0	0	0	0	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639308	0.29157	.	.	ENSG00000164418	ENST00000413795;ENST00000318991;ENST00000540076	T;T	0.12672	2.66;2.66	5.05	5.05	0.67936	.	.	.	.	.	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	T	0.36114	-0.9761	9	0.24483	T	0.36	.	11.9017	0.52687	0.0:0.8247:0.1753:0.0	.	866	Q13002-2	.	Q	866;866;641	ENSP00000405596:P866Q;ENSP00000313276:P866Q	ENSP00000313276:P866Q	P	+	2	0	GRIK2	102618564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.675000	0.25232	2.785000	0.95823	0.591000	0.81541	CCA	.		0.289	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102511871	C	A	102511871	1	1	54	0	1	0	0	0	0	0	0	0	6801	594	21	3		3	GRIK2	6	102511871	Intron	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	74586275	102511871	68603196	44	11515											
ESR1	2099	broad.mit.edu	37	chr6	152129382	152129382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgctgatgctactgcAcccgccgccgcagctgtcgc	12	18	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr6:152129382A>C	ENST00000206249.3	+	1	697	c.335A>C	c.(334-336)cAc>cCc	p.H112P	ESR1_ENST00000406599.1_Missense_Mutation_p.H112P|ESR1_ENST00000456483.2_Missense_Mutation_p.H112P|ESR1_ENST00000440973.1_Missense_Mutation_p.H112P|ESR1_ENST00000443427.1_Missense_Mutation_p.H112P|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000338799.5_Missense_Mutation_p.H112P	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	112	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ATGCTACTGCACCCGCCGCCG	0.711																																					p.H112P		.											.	ESR1-1042	0			c.A335C						.																																			SO:0001583	missense	2099	exon1			TACTGCACCCGCC	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.335A>C	6.37:g.152129382A>C	ENSP00000206249:p.His112Pro	Somatic	58	7		WXS	Illumina GAIIx	Phase_I	67	14	NM_000125	0	0	0	0	0	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	A	6.385	0.439069	0.12104	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000446550;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.01	2.51	0.30379	.	0.618160	0.18516	N	0.138909	T	0.13030	0.0316	N	0.19112	0.55	0.80722	D	1	D;P;P;P	0.71674	0.998;0.632;0.579;0.632	D;P;B;B	0.63488	0.915;0.545;0.247;0.362	T	0.11665	-1.0578	10	0.02654	T	1	.	7.6419	0.28298	0.7846:0.1409:0.0745:0.0	.	112;112;112;112	Q9H2M1;A8KAF4;G4XH65;P03372	.;.;.;ESR1_HUMAN	P	112;112;112;112;112;112;112;40	ENSP00000405330:H112P;ENSP00000342630:H112P;ENSP00000415934:H112P;ENSP00000411105:H112P;ENSP00000387500:H112P;ENSP00000206249:H112P;ENSP00000384064:H112P	ENSP00000206249:H112P	H	+	2	0	ESR1	152171075	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.076000	0.50081	0.232000	0.21100	0.533000	0.62120	CAC	.		0.711	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			C	152129382	A	C	152129382	3	2	54	1	0	0	0	0	1	0	0	0	5272	159	6	5	337	5	ESR1	6	152129382	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	49617511	152129382	18985685	45	11516											
STK31	56164	bcgsc.ca	37	chr7	23811800	23811800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattgaatatttaaataagaGtcccagtgtggatcacttgc	8	6	1	2	rs10247878	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr7:23811800G>T	ENST00000355870.3	+	15	1987	c.1868G>T	c.(1867-1869)aGt>aTt	p.S623I	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S623I|STK31_ENST00000428484.1_Missense_Mutation_p.S600I|STK31_ENST00000354639.3_Missense_Mutation_p.S600I	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	623			S -> I (in dbSNP:rs10247878). {ECO:0000269|PubMed:17344846}.	NKS -> KKI (in Ref. 1; AAK31978). {ECO:0000305}.		acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAATAAGAGTCCCAGTGTG	0.299													G|||	373	0.0744808	0.0431	0.0908	5008	,	,		16735	0.0476		0.16	False		,,,				2504	0.045				p.S623I		.											.	STK31-338	0			c.G1868T						.	G	ILE/SER,ILE/SER,ILE/SER	263,4139	141.9+/-177.2	8,247,1946	46	48	47		1799,1868,1799	2.3	1	7	dbSNP_119	47	1404,7184	265.6+/-286.2	107,1190,2997	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	142,142,142	115,1437,4943	TT,TG,GG		16.3484,5.9746,12.8329	benign,benign,benign	600/997,623/1020,600/997	23811800	1667,11323	2201	4294	6495	SO:0001583	missense	56164	exon15			ATAAGAGTCCCAG	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.1868G>T	7.37:g.23811800G>T	ENSP00000348132:p.Ser623Ile	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	93	5	NM_031414	0	0	0	0	0	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	222	0.10164835164835165	26	0.052845528455284556	47	0.1298342541436464	24	0.04195804195804196	125	0.16490765171503957	G	11.86	1.763990	0.31228	0.059746	0.163484	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70869	-0.52;1.21;-0.52;-0.52	5.19	2.34	0.29019	.	0.238536	0.42821	D	0.000653	T	0.00384	0.0012	M	0.62723	1.935	0.42167	P	0.008380000000000054	P;B	0.39216	0.664;0.0	B;B	0.31191	0.125;0.002	T	0.04664	-1.0935	9	0.37606	T	0.19	-0.6498	8.4601	0.32923	0.1231:0.2418:0.6351:0.0	rs10247878;rs10247878	623;623	B4DZ06;Q9BXU1	.;STK31_HUMAN	I	623;623;600;600	ENSP00000348132:S623I;ENSP00000411852:S623I;ENSP00000346660:S600I;ENSP00000406146:S600I	ENSP00000346660:S600I	S	+	2	0	STK31	23778325	0.983000	0.35010	0.987000	0.45799	0.867000	0.49689	1.051000	0.30417	0.188000	0.20168	-0.266000	0.10368	AGT	G|0.876;T|0.124		0.299	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23811800	G	T	23811800	3	4	54	1	0	0	0	0	1	0	0	0	15343	1029	36	3	1926	3	STK31	7	23811800	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		23811800	135326863	46	11517											
WNT2	7472	broad.mit.edu;bcgsc.ca	37	chr7	116937913	116937913	+	Frame_Shift_Del	DEL	C	C	-													tggcacttgcactcttgtttCaagaaccgctttacagcctg							TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr7:116937913delC	ENST00000265441.3	-	4	905	c.606delG	c.(604-606)ttgfs	p.L202fs		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	202					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACTCTTGTTTCAAGAACCGCT	0.547																																					p.L202fs		.											.	WNT2-1011	0			c.606delG						.						86	82	84					7																	116937913		2203	4300	6503	SO:0001589	frameshift_variant	7472	exon4			TTGTTTCAAGAAC	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.606delG	7.37:g.116937913delC	ENSP00000265441:p.Leu202fs	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	28	8	NM_003391	0	0	0	0	0	A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	CCDS5771.1																																																																																			.		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		-	116937913	C	-	116937913	7	5	54	1	0	1	0	1	0	0	0	0	17435	825	29	0	484	0	WNT2	7	116937913	Frame_Shift_Del	DEL	C	TCGA-OR-A5LL-01A-11D-A29I-10	93126113	116937913	42200750	47	11518	109	2									
WNT2	7472	broad.mit.edu;bcgsc.ca	37	chr7	116937915	116937916	+	Frame_Shift_Del	DEL	AG	AG	-													gcacttgcactcttgtttcaAgaaccgctttacagcctgcc							TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr7:116937915_116937916delAG	ENST00000265441.3	-	4	902_903	c.603_604delCT	c.(601-606)ttcttgfs	p.L202fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	202					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGTTTCAAGAACCGCTTTA	0.545																																					p.201_202del		.											.	WNT2-1011	0			c.603_604del						.																																			SO:0001589	frameshift_variant	7472	exon4			GTTTCAAGAACCG	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.603_604delCT	7.37:g.116937915_116937916delAG	ENSP00000265441:p.Leu202fs	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	27	8	NM_003391	0	0	0	0	0	A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	CCDS5771.1																																																																																			.		0.545	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		-	116937916	AG	-	116937915	7	5	54	1	0	1	0	1	0	0	0	0	17435	69	3	0	486	0	WNT2	7	116937915	Frame_Shift_Del	DEL	AG	TCGA-OR-A5LL-01A-11D-A29I-10	2	116937915	42200748	48	11519	109	2									
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_194284	0	0	0	2	2	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	54	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		8560536	137803486	49	11520											
DOCK5	80005	bcgsc.ca	37	chr8	25203011	25203013	+	In_Frame_Del	DEL	CCA	CCA	-													agtgcagagaagtgctgctgCcactgctgacagaccagctc					rs148691535		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	CCA	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr8:25203011_25203013delCCA	ENST00000276440.7	+	26	2682_2684	c.2638_2640delCCA	c.(2638-2640)ccadel	p.P880del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	880					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGCTGCTGCCACTGCTGACAG	0.562																																					p.880_880del	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.2638_2640del						.																																			SO:0001651	inframe_deletion	80005	exon26			CTGCTGCCACTGC		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2638_2640delCCA	8.37:g.25203011_25203013delCCA	ENSP00000276440:p.Pro880del	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	23	4	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	In_Frame_Del	DEL	ENST00000276440.7	37	CCDS6047.1																																																																																			.		0.562	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		-	25203013	CCA	-	25203011	7	5	54	1	0	1	0	1	0	0	0	0	4704	739	26	0	2740	0	DOCK5	8	25203011	In_Frame_Del	DEL	CCA	TCGA-OR-A5LL-01A-11D-A29I-10	16642475	25203011	121161011	50	11521											
ARMC1	55156	bcgsc.ca	37	chr8	66525548	66525548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagttcccagaaaaaaTtgagctttccttcgacgtga	8	8	0	3	rs11559265	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr8:66525548T>C	ENST00000276569.3	-	4	640	c.396A>G	c.(394-396)caA>caG	p.Q132Q	ARMC1_ENST00000523384.1_5'Flank|ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	132					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCAGAAAAAATTGAGCTTTCC	0.393													C|||	1283	0.25619	0.0877	0.3228	5008	,	,		19145	0.379		0.3002	False		,,,				2504	0.2648				p.Q132Q		.											.	ARMC1-91	0			c.A396G						.	C		542,3864	776.6+/-414.2	34,474,1695	152	140	144		396	5.9	1	8	dbSNP_120	144	2698,5902	682.6+/-403.8	398,1902,2000	no	coding-synonymous	ARMC1	NM_018120.4		432,2376,3695	CC,CT,TT		31.3721,12.3014,24.9116		132/283	66525548	3240,9766	2203	4300	6503	SO:0001819	synonymous_variant	55156	exon4			AAAAAATTGAGCT	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.396A>G	8.37:g.66525548T>C		Somatic	106	1		WXS	Illumina GAIIx	Phase_I	79	4	NM_018120	0	0	23	23	0	B4E2W7|Q9H018|Q9H820	Silent	SNP	ENST00000276569.3	37	CCDS6181.1																																																																																			T|0.731;C|0.269		0.393	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		C	66525548	T	C	66525548	2	2	54	1	0	0	0	0	0	0	0	1	950	1490	52	4		4	ARMC1	8	66525548	Silent	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	41322537	66525548	79838474	51	11522											
RGS22	26166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	101016248	101016248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatgcttgtattctgcagGaacattatcccaatattctg	6	8	2	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr8:101016248G>A	ENST00000360863.6	-	17	2727	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	RGS22_ENST00000523437.1_Missense_Mutation_p.P833S|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Missense_Mutation_p.P664S|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	845					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATTCTGCAGGAACATTATCC	0.373																																					p.P845S		.											.	RGS22-140	0			c.C2533T						.						142	130	134					8																	101016248		1861	4094	5955	SO:0001583	missense	26166	exon17			CTGCAGGAACATT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2533C>T	8.37:g.101016248G>A	ENSP00000354109:p.Pro845Ser	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	92	17	NM_015668	0	0	0	0	0	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784358	0.49997	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.51325	0.77;0.73;0.76;0.71	5.49	5.49	0.81192	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.66939	2.045	0.34814	D	0.738049	D;D;D	0.55605	0.959;0.959;0.972	P;P;P	0.53313	0.503;0.503;0.723	T	0.68845	-0.5301	10	0.45353	T	0.12	.	12.367	0.55234	0.0818:0.0:0.9182:0.0	.	833;845;664	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	S	845;833;664;833;160	ENSP00000354109:P845S;ENSP00000429382:P664S;ENSP00000428212:P833S;ENSP00000427754:P160S	ENSP00000354109:P845S	P	-	1	0	RGS22	101085424	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.342000	0.59341	2.571000	0.86741	0.655000	0.94253	CCT	.		0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	101016248	G	A	101016248	3	1	54	1	0	0	0	0	1	0	0	0	13350	1174	41	3	1305	3	RGS22	8	101016248	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	34490700	101016248	45347774	52	11523											
COL14A1	7373	broad.mit.edu	37	chr8	121344902	121344902	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttcctacctctcttctaGggcattcctggcacccctgg	7	15	2	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr8:121344902G>T	ENST00000297848.3	+	42	4983		c.e42-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCTCTTCTAGGGCATTCCTG	0.507																																					.		.											.	COL14A1-543	0			c.4714-1G>T						.						154	134	141					8																	121344902		2203	4300	6503	SO:0001630	splice_region_variant	7373	exon42			CTTCTAGGGCATT		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4714-1G>T	8.37:g.121344902G>T		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	62	3	NM_021110	0	0	0	0	0		Splice_Site	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359633	0.24598	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.52	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0253	0.53367	0.0841:0.0:0.9159:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121414083	1.000000	0.71417	0.999000	0.59377	0.093000	0.18481	4.263000	0.58853	2.594000	0.87642	0.561000	0.74099	.	.		0.507	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	T	121344902	G	T	121344902	5	4	54	1	0	0	0	0	0	0	1	0	3678	1014	35	3	4875	3	COL14A1	8	121344902	Splice_Site	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	20328654	121344902	25019120	53	11524											
KIAA1432	57589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	5754924	5754924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataacataaatgaccgtcaAgaagaggtaagttttttctc	7	6	2	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr9:5754924A>G	ENST00000414202.2	+	15	1877	c.1686A>G	c.(1684-1686)caA>caG	p.Q562Q	KIAA1432_ENST00000251879.6_Silent_p.Q562Q|KIAA1432_ENST00000418622.3_Silent_p.Q483Q|KIAA1432_ENST00000449720.2_Silent_p.Q446Q|KIAA1432_ENST00000381532.2_Silent_p.Q483Q	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)		ATGACCGTCAAGAAGAGGTAA	0.294																																					p.Q562Q		.											.	KIAA1432-90	0			c.A1686G						.						80	81	81					9																	5754924		2203	4300	6503	SO:0001819	synonymous_variant	57589	exon15			CCGTCAAGAAGAG																												ENST00000414202.2:c.1686A>G	9.37:g.5754924A>G		Somatic	17	0		WXS	Illumina GAIIx	Phase_I	26	6	NM_001135920	0	0	0	0	0		Silent	SNP	ENST00000414202.2	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	8.536	0.872115	0.17322	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57069	-0.7874	4	.	.	.	-11.1198	7.4465	0.27213	0.8302:0.0:0.1698:0.0	.	.	.	.	G	454	.	.	R	+	1	2	KIAA1432	5744924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.749000	0.55150	1.927000	0.55829	0.528000	0.53228	AGA	.		0.294	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			G	5754924	A	G	5754924	2	3	54	1	0	0	0	0	0	0	0	1	8260	69	3	4		4	KIAA1432	9	5754924	Silent	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10		5754924	135458507	54	11525											
FRMPD1	22844	bcgsc.ca	37	chr9	37731007	37731007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagggaggagtcacatgaCtaccgctgcctcttcagggt	13	10	3	1	rs2274324	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr9:37731007C>T	ENST00000539465.1	+	9	1358	c.765C>T	c.(763-765)gaC>gaT	p.D255D	FRMPD1_ENST00000377765.3_Silent_p.D255D|FRMPD1_ENST00000536622.1_Silent_p.D77D|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.D124D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	255	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTCACATGACTACCGCTGCC	0.507													C|||	441	0.0880591	0.0688	0.0821	5008	,	,		19066	0.1885		0.0239	False		,,,				2504	0.0808				p.D255D		.											.	FRMPD1-159	0			c.C765T						.	C		257,4149	149.9+/-184.0	7,243,1953	103	96	98		765	5.6	1	9	dbSNP_100	98	217,8383	92.8+/-154.8	1,215,4084	yes	coding-synonymous	FRMPD1	NM_014907.2		8,458,6037	TT,TC,CC		2.5233,5.833,3.6445		255/1579	37731007	474,12532	2203	4300	6503	SO:0001819	synonymous_variant	22844	exon9			ACATGACTACCGC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.765C>T	9.37:g.37731007C>T		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	52	4	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																			C|0.942;T|0.058		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37731007	C	T	37731007	2	4	54	1	0	0	0	0	0	0	0	1	6081	564	20	3		3	FRMPD1	9	37731007	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	31976083	37731007	103482424	55	11526											
PSAT1	29968	broad.mit.edu	37	chr9	80919786	80919786	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaggagcttggtcagcTaaggccgcagaagaagccaa	14	9	1	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr9:80919786T>G	ENST00000376588.3	+	4	395	c.327T>G	c.(325-327)gcT>gcG	p.A109A	PSAT1_ENST00000347159.2_Silent_p.A109A	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	109					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CTTGGTCAGCTAAGGCCGCAG	0.502																																					p.A109A	Colon(34;187 791 10662 18313 37609)	.											.	PSAT1-91	0			c.T327G						.						111	102	105					9																	80919786		2203	4300	6503	SO:0001819	synonymous_variant	29968	exon4			GTCAGCTAAGGCC	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.327T>G	9.37:g.80919786T>G		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	84	8	NM_021154	0	0	83	84	1	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	CCDS6660.1																																																																																			.		0.502	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		G	80919786	T	G	80919786	2	3	54	1	0	0	0	0	0	0	0	1	12686	1509	53	5		5	PSAT1	9	80919786	Silent	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	43188779	80919786	60293645	56	11527											
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	137710730	137710730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatccccaggcccggacGgtccccccggccccatggtg	13	19	0	0	rs183114696		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr9:137710730G>A	ENST00000371817.3	+	56	4789	c.4375G>A	c.(4375-4377)Ggt>Agt	p.G1459S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1459	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)		AGGCCCGGACGGTCCCCCCGG	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		15371	0		0	False		,,,				2504	0				p.G1459S		.											.	COL5A1-524	0			c.G4375A						.						51	50	50					9																	137710730		2203	4300	6503	SO:0001583	missense	1289	exon56			CCGGACGGTCCCC	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.4375G>A	9.37:g.137710730G>A	ENSP00000360882:p.Gly1459Ser	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	70	8	NM_000093	0	0	1	2	1	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.6	4.018713	0.75275	.	.	ENSG00000130635	ENST00000371817	D	0.99329	-5.75	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99622	0.9862	H	0.98802	4.335	0.80722	D	1	D	0.71674	0.998	P	0.58210	0.835	D	0.97512	1.0067	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1459	P20908	CO5A1_HUMAN	S	1459	ENSP00000360882:G1459S	ENSP00000360882:G1459S	G	+	1	0	COL5A1	136850551	1.000000	0.71417	0.151000	0.22473	0.875000	0.50365	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGT	G|0.999;A|0.000		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137710730	G	A	137710730	3	1	54	1	0	0	0	0	1	0	0	0	3703	1116	39	1	4597	1	COL5A1	9	137710730	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	56790944	137710730	3502701	57	11528											
ECHDC3	79746	hgsc.bcm.edu;bcgsc.ca	37	chr10	11805375	11805375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgagccgtccggtggtGtccctgggcaaagccacctt	13	14	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr10:11805375G>A	ENST00000379215.4	+	5	955	c.744G>A	c.(742-744)gtG>gtA	p.V248V	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	248						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GTCCGGTGGTGTCCCTGGGCA	0.647																																					p.V248V		.											.	ECHDC3-90	0			c.G744A						.						74	61	66					10																	11805375		2203	4300	6503	SO:0001819	synonymous_variant	79746	exon5			GGTGGTGTCCCTG	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.744G>A	10.37:g.11805375G>A		Somatic	33	0		WXS	Illumina GAIIx	Phase_I	41	7	NM_024693	0	0	3	3	0	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																			.		0.647	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		A	11805375	G	A	11805375	2	1	54	1	0	0	0	0	0	0	0	1	4909	1364	48	3		3	ECHDC3	10	11805375	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		11805375	123729372	58	11529											
SLIT1	6585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	98799839	98799839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaggcgcactcctgtgGgcactgtgggcggggcaggc	19	12	0	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr10:98799839G>A	ENST00000266058.4	-	21	2448	c.2203C>T	c.(2203-2205)Cca>Tca	p.P735S	SLIT1_ENST00000371070.4_Missense_Mutation_p.P735S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	735	LRRNT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACTCCTGTGGGCACTGTGGG	0.662																																					p.P735S		.											.	SLIT1-94	0			c.C2203T						.						33	31	32					10																	98799839		2203	4300	6503	SO:0001583	missense	6585	exon21			CCTGTGGGCACTG	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2203C>T	10.37:g.98799839G>A	ENSP00000266058:p.Pro735Ser	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	203	39	NM_003061	0	0	1	1	0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987470	0.93106	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;D	0.98075	-4.7;-4.7;-4.7	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	D	0.99457	1.0942	10	0.62326	D	0.03	.	18.7361	0.91755	0.0:0.0:1.0:0.0	.	745;735	E7EWQ8;O75093	.;SLIT1_HUMAN	S	735;745;735;728	ENSP00000266058:P735S;ENSP00000360109:P735S;ENSP00000315005:P728S	ENSP00000266058:P735S	P	-	1	0	SLIT1	98789829	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.263000	0.95617	2.657000	0.90304	0.655000	0.94253	CCA	.		0.662	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		A	98799839	G	A	98799839	3	1	54	1	0	0	0	0	1	0	0	0	14784	1232	43	3	2469	3	SLIT1	10	98799839	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	86994464	98799839	36734908	59	11530											
PTPMT1	114971	broad.mit.edu	37	chr11	47587390	47587390	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccctgccccgtccccgCcgctccgtccctgtcgggcc	12	23	0	0	rs193125282	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr11:47587390C>T	ENST00000326674.9	+	1	196				PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Silent_p.R72R|PTPMT1_ENST00000534775.1_Silent_p.R72R|NDUFS3_ENST00000533507.1_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1						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)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CCCGTCCCCGCCGCTCCGTCC	0.731													C|||	4	0.000798722	0	0	5008	,	,		10718	0		0.004	False		,,,				2504	0				p.R72R		.											.	PTPMT1-23	0			c.C216T						.	C	,	1,3739		0,1,1869	7	8	8		216,	0.8	0	11		8	20,8132		0,20,4056	no	coding-synonymous,intron	PTPMT1	NM_001143984.1,NM_175732.2	,	0,21,5925	TT,TC,CC		0.2453,0.0267,0.1766	,	72/152,	47587390	21,11871	1870	4076	5946	SO:0001627	intron_variant	114971	exon1			TCCCCGCCGCTCC	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.174+42C>T	11.37:g.47587390C>T		Somatic	34	1		WXS	Illumina GAIIx	Phase_I	45	8	NM_001143984	0	0	5	6	1	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Silent	SNP	ENST00000326674.9	37	CCDS41643.1																																																																																			C|0.998;T|0.002		0.731	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		T	47587390	C	T	47587390	1	4	54	0	1	0	0	0	0	0	0	0	12821	726	26	3		3	PTPMT1	11	47587390	Intron	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		47587390	87419126	60	11531											
PC	5091	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66636324	66636324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacactcactcggtgaTctcctctgtgaccgtgtgct	9	16	3	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr11:66636324T>C	ENST00000393958.2	-	9	1108	c.1015A>G	c.(1015-1017)Atc>Gtc	p.I339V	PC_ENST00000393960.1_Missense_Mutation_p.I339V|PC_ENST00000355677.3_Missense_Mutation_p.I339V|PC_ENST00000393955.2_Missense_Mutation_p.I339V|PC_ENST00000524491.1_Missense_Mutation_p.I299V	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	339	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACTCGGTGATCTCCTCTGTG	0.642																																					p.I339V		.											.	PC-228	0			c.A1015G						.						57	53	55					11																	66636324		2200	4295	6495	SO:0001583	missense	5091	exon9			CGGTGATCTCCTC	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.1015A>G	11.37:g.66636324T>C	ENSP00000377530:p.Ile339Val	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	79	7	NM_000920	0	0	0	0	0	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906912	0.33628	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	4.65	3.51	0.40186	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.067688	0.56097	N	0.000029	D	0.92061	0.7484	N	0.16708	0.43	0.53005	D	0.999967	B	0.26445	0.149	B	0.33960	0.173	D	0.85296	0.1070	10	0.18710	T	0.47	-21.4714	8.3459	0.32272	0.0:0.0964:0.0:0.9036	.	339	P11498	PYC_HUMAN	V	339;339;339;299;339	ENSP00000377527:I339V;ENSP00000377530:I339V;ENSP00000377532:I339V;ENSP00000434192:I299V;ENSP00000347900:I339V	ENSP00000347900:I339V	I	-	1	0	PC	66392900	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	3.737000	0.55060	0.638000	0.30545	-0.379000	0.06801	ATC	.		0.642	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		C	66636324	T	C	66636324	3	2	54	1	0	0	0	0	1	0	0	0	11536	1435	50	4	2577	4	PC	11	66636324	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	19048934	66636324	68370192	61	11532											
MRPS35	60488	bcgsc.ca	37	chr12	27867727	27867727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcggaaagaacacccGgaaatgaaaggccaccaaga	11	10	0	3	rs1127787	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:27867727G>A	ENST00000081029.3	+	2	198	c.127G>A	c.(127-129)Gga>Aga	p.G43R	MRPS35_ENST00000538315.1_Missense_Mutation_p.G43R	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)					AAGAACACCCGGAAATGAAAG	0.348													G|||	598	0.119409	0.0068	0.1009	5008	,	,		18221	0.1944		0.173	False		,,,				2504	0.1524				p.G43R		.											.	MRPS35-90	0			c.G127A						.	G	ARG/GLY,ARG/GLY	148,4258	103.4+/-141.9	1,146,2056	101	104	103		127,127	2	0	12	dbSNP_86	103	1372,7228	266.9+/-287.0	108,1156,3036	yes	missense,missense	MRPS35	NM_001190864.1,NM_021821.3	125,125	109,1302,5092	AA,AG,GG		15.9535,3.3591,11.6869	benign,benign	43/195,43/324	27867727	1520,11486	2203	4300	6503	SO:0001583	missense	60488	exon2			ACACCCGGAAATG	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.127G>A	12.37:g.27867727G>A	ENSP00000081029:p.Gly43Arg	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	97	6	NM_001190864	0	0	0	0	0	B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	CCDS8714.1	282	0.12912087912087913	7	0.014227642276422764	37	0.10220994475138122	106	0.1853146853146853	132	0.1741424802110818	G	0.077	-1.191671	0.01607	0.033591	0.159535	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	4.42	1.99	0.26369	.	0.456688	0.23123	N	0.051666	T	0.00012	0.0000	N	0.00152	-1.975	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26608	-1.0098	9	0.08599	T	0.76	-4.1139	4.4065	0.11411	0.6957:0.2013:0.103:0.0	rs1127787;rs1801373;rs3177168;rs3184093;rs11545242;rs17404577;rs52803578;rs3177168	43;43	P82673-2;P82673	.;RT35_HUMAN	R	43	ENSP00000081029:G43R;ENSP00000445390:G43R	ENSP00000081029:G43R	G	+	1	0	MRPS35	27758994	0.008000	0.16893	0.007000	0.13788	0.008000	0.06430	1.190000	0.32126	0.438000	0.26450	-0.238000	0.12139	GGA	G|0.873;A|0.127		0.348	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		A	27867727	G	A	27867727	3	1	54	1	0	0	0	0	1	0	0	0	9882	1117	39	1	133	1	MRPS35	12	27867727	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		27867727	105984168	62	11533											
KRT1	3848	hgsc.bcm.edu	37	chr12	53069243	53069243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccggagccgtagctgcTacctccggagccatagctgc	11	16	0	0	rs77846840|rs540699806|rs267607656	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:53069243T>C	ENST00000252244.3	-	9	1727	c.1669A>G	c.(1669-1671)Agc>Ggc	p.S557G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccgtagctgctacctccggag	0.682																																					p.S557G		.											.	KRT1-92	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)	c.A1669G						.						4	4	4					12																	53069243		1805	3566	5371	SO:0001583	missense	3848	exon9			AGCTGCTACCTCC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669A>G	12.37:g.53069243T>C	ENSP00000252244:p.Ser557Gly	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	17	4	NM_006121	0	0	0	0	0	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	t	12.77	2.037794	0.35989	.	.	ENSG00000167768	ENST00000252244	T	0.81247	-1.47	3.63	0.628	0.17681	.	.	.	.	.	T	0.54711	0.1875	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	8	0.07644	T	0.81	.	5.639	0.17552	0.0:0.6406:0.1602:0.1993	.	557	P04264	K2C1_HUMAN	G	557	ENSP00000252244:S557G	ENSP00000252244:S557G	S	-	1	0	KRT1	51355510	0.000000	0.05858	0.034000	0.17996	0.201000	0.24016	-0.192000	0.09587	-0.104000	0.12154	-1.598000	0.00824	AGC	T|0.500;C|0.500		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		C	53069243	T	C	53069243	3	2	54	1	0	0	0	0	1	0	0	0	8474	1522	53	4	269	4	KRT1	12	53069243	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	25201516	53069243	80782652	63	11534											
DNAJC14	85406	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	56215846	56215846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgggcttagaggctGcagcggctccaggggcaggc	18	10	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:56215846G>A	ENST00000357606.3	-	8	2313	c.2024C>T	c.(2023-2025)gCa>gTa	p.A675V	RP11-762I7.5_ENST00000546837.1_Silent_p.C304C|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A675V|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A675V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	675	Poly-Ala.				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						CTTAGAGGCTGCAGCGGCTCC	0.557																																					p.A675V		.											.	DNAJC14-229	0			c.C2024T						.						103	97	99					12																	56215846		2203	4300	6503	SO:0001583	missense	85406	exon7			GAGGCTGCAGCGG	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.2024C>T	12.37:g.56215846G>A	ENSP00000350223:p.Ala675Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	66	31	NM_032364	0	0	8	16	8	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.771156|1.771156	0.31320|0.31320	.|.	.|.	ENSG00000135392|ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000540330	T;T;T|.	0.37584|.	1.19;1.19;1.19|.	5.11|5.11	4.21|4.21	0.49690|0.49690	.|.	0.451250|.	0.21765|.	N|.	0.069457|.	T|.	0.30448|.	0.0765|.	N|N	0.08118|0.08118	0|0	0.24477|0.24477	N|N	0.994368|0.994368	B;B|.	0.24258|.	0.1;0.047|.	B;B|.	0.21708|.	0.036;0.024|.	T|.	0.31916|.	-0.9926|.	10|.	0.56958|0.59425	D|D	0.05|0.04	-0.0012|-0.0012	13.683|13.683	0.62499|0.62499	0.0:0.1561:0.8439:0.0|0.0:0.1561:0.8439:0.0	.|.	675;675|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	V|X	675;675;385;675|171	ENSP00000350223:A675V;ENSP00000316240:A675V;ENSP00000317500:A675V|.	ENSP00000316240:A675V|ENSP00000441495:Q171X	A|Q	-|-	2|1	0|0	DNAJC14|DNAJC14	54502113|54502113	0.092000|0.092000	0.21681|0.21681	0.703000|0.703000	0.30354|0.30354	0.233000|0.233000	0.25261|0.25261	2.061000|2.061000	0.41403|0.41403	1.506000|1.506000	0.48736|0.48736	0.591000|0.591000	0.81541|0.81541	GCA|CAG	.		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56215846	G	A	56215846	3	1	54	1	0	0	0	0	1	0	0	0	4647	1319	46	3	88	3	DNAJC14	12	56215846	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	3146603	56215846	77636049	64	11535											
MMP19	4327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56231788	56231788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcataggtcttcccacggGgccctgagcgtaatggtgtg	14	10	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:56231788G>A	ENST00000322569.4	-	7	990	c.899C>T	c.(898-900)cCc>cTc	p.P300L	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.P14L|MMP19_ENST00000548629.1_Missense_Mutation_p.P277L|MMP19_ENST00000409200.3_Silent_p.A253A	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	300					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CTTCCCACGGGGCCCTGAGCG	0.532																																					p.P300L		.											.	MMP19-227	0			c.C899T						.						48	47	48					12																	56231788		2203	4300	6503	SO:0001583	missense	4327	exon7			CCACGGGGCCCTG	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.899C>T	12.37:g.56231788G>A	ENSP00000313437:p.Pro300Leu	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	56	15	NM_002429	0	0	0	0	0	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825252	0.50739	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.15372	4.57;2.58;2.43	5.7	5.7	0.88788	Hemopexin/matrixin (2);	0.108661	0.64402	D	0.000004	T	0.27765	0.0683	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.429;0.981	B;P	0.57776	0.102;0.827	T	0.02026	-1.1227	10	0.02654	T	1	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	300;14	Q99542;Q99542-3	MMP19_HUMAN;.	L	14;300;277	ENSP00000377736:P14L;ENSP00000313437:P300L;ENSP00000446979:P277L	ENSP00000313437:P300L	P	-	2	0	MMP19	54518055	1.000000	0.71417	0.978000	0.43139	0.221000	0.24807	9.056000	0.93881	2.711000	0.92665	0.561000	0.74099	CCC	.		0.532	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		A	56231788	G	A	56231788	3	1	54	1	0	0	0	0	1	0	0	0	9695	1232	43	3	639	3	MMP19	12	56231788	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	15942	56231788	77620107	65	11536											
MBD6	114785	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57922471	57922471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgggagtagtcagaaAgtctcgtcgtggccgtagga	15	11	2	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:57922471A>C	ENST00000355673.3	+	11	3199	c.2843A>C	c.(2842-2844)aAg>aCg	p.K948T	MBD6_ENST00000431731.2_Missense_Mutation_p.K948T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	948						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTAGTCAGAAAGTCTCGTCGT	0.493																																					p.K948T		.											.	MBD6-516	0			c.A2843C						.						113	116	115					12																	57922471		2203	4300	6503	SO:0001583	missense	114785	exon11			TCAGAAAGTCTCG	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2843A>C	12.37:g.57922471A>C	ENSP00000347896:p.Lys948Thr	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	88	8	NM_052897	0	0	26	31	5	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.8|21.8	4.197271|4.197271	0.79015|0.79015	.|.	.|.	ENSG00000166987|ENSG00000166987	ENST00000300263;ENST00000552163|ENST00000355673;ENST00000431731	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.110360|0.110360	0.39210|0.39210	N|N	0.001423|0.001423	T|T	0.50684|0.50684	0.1630|0.1630	N|N	0.08118|0.08118	0|0	0.36615|0.36615	D|D	0.875431|0.875431	.|D;D	.|0.61080	.|0.989;0.989	.|D;D	.|0.70487	.|0.969;0.969	T|T	0.64097|0.64097	-0.6487|-0.6487	7|9	0.87932|0.87932	D|D	0|0	-5.1585|-5.1585	11.2115|11.2115	0.48802|0.48802	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|948;948	.|Q6P0P0;Q96DN6	.|.;MBD6_HUMAN	N|T	409;182|948	.|.	ENSP00000300263:K409N|ENSP00000347896:K948T	K|K	+|+	3|2	2|0	MBD6|MBD6	56208738|56208738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.702000|2.702000	0.47102|0.47102	2.225000|2.225000	0.72522|0.72522	0.529000|0.529000	0.55759|0.55759	AAA|AAG	.		0.493	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			C	57922471	A	C	57922471	3	2	54	1	0	0	0	0	1	0	0	0	9386	72	3	5	2877	5	MBD6	12	57922471	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	1690683	57922471	75929424	66	11537											
WIF1	11197	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	65448919	65448919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttattgcagtgtcttccatGccaaccttcttgacattggc	7	11	2	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr12:65448919G>T	ENST00000286574.4	-	9	1371	c.997C>A	c.(997-999)Cat>Aat	p.H333N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	333	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGTCTTCCATGCCAACCTTCT	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																p.H333N	Esophageal Squamous(148;1595 1816 48559 49439 49664)	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1-1110	0			c.C997A						.						94	88	90					12																	65448919		2203	4300	6503	SO:0001583	missense	11197	exon9			TTCCATGCCAACC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.997C>A	12.37:g.65448919G>T	ENSP00000286574:p.His333Asn	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	68	6	NM_007191	0	0	0	0	0	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557952	0.27827	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.55052	1.01;0.54	5.71	4.82	0.62117	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.058488	0.64402	D	0.000003	T	0.36663	0.0975	L	0.28115	0.83	0.51767	D	0.999931	B	0.10296	0.003	B	0.10450	0.005	T	0.15492	-1.0435	9	.	.	.	.	9.8659	0.41142	0.0697:0.0:0.792:0.1383	.	333	Q9Y5W5	WIF1_HUMAN	N	333;82	ENSP00000286574:H333N;ENSP00000439024:H82N	.	H	-	1	0	WIF1	63735186	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.036000	0.64164	1.557000	0.49525	0.655000	0.94253	CAT	.		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			T	65448919	G	T	65448919	3	4	54	1	0	0	0	0	1	0	0	0	17415	1319	46	3	150	3	WIF1	12	65448919	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	7526448	65448919	68402976	67	11538											
ERCC5	2073	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	103498624	103498624	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgcagccgcctcatgggggTccaggggctctggaagctgc	16	13	2	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr13:103498624T>A	ENST00000355739.4	+	1	1431	c.8T>A	c.(7-9)gTc>gAc	p.V3D	ERCC5_ENST00000535557.1_Missense_Mutation_p.V3D|BIVM-ERCC5_ENST00000602836.1_Intron	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	3	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCATGGGGGTCCAGGGGCTC	0.637			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.V3D		.	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	.	ERCC5-689	0			c.T8A						.						28	30	30					13																	103498624		2203	4300	6503	SO:0001583	missense	2073	exon1	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TGGGGGTCCAGGG	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.8T>A	13.37:g.103498624T>A	ENSP00000347978:p.Val3Asp	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	22	14	NM_000123	0	0	3	8	5	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	T	31	5.078337	0.94000	.	.	ENSG00000134899	ENST00000355739;ENST00000535557	T;T	0.71698	-0.59;-0.59	5.18	5.18	0.71444	XPG N-terminal (2);	0.184413	0.46758	D	0.000273	D	0.84456	0.5476	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86886	0.2045	9	0.87932	D	0	-14.3441	15.2046	0.73169	0.0:0.0:0.0:1.0	.	3;3	B4DSI5;P28715	.;ERCC5_HUMAN	D	3	ENSP00000347978:V3D;ENSP00000442117:V3D	ENSP00000347978:V3D	V	+	2	0	ERCC5	102296625	1.000000	0.71417	0.992000	0.48379	0.944000	0.59088	7.410000	0.80065	2.171000	0.68590	0.533000	0.62120	GTC	.		0.637	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103498624	T	A	103498624	3	1	54	1	0	0	0	0	1	0	0	0	5232	1667	58	5	10	5	ERCC5	13	103498624	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10		103498624	11671254	68	11539											
LRP10	26020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	23345363	23345363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggcattgccagcctggCaatttccgatgccgggacga	13	12	0	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr14:23345363C>T	ENST00000359591.4	+	5	1897	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	LRP10_ENST00000546834.1_Silent_p.G402G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	402	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCCAGCCTGGCAATTTCCGAT	0.597																																					p.G402G		.											.	LRP10-90	0			c.C1206T						.						146	134	138					14																	23345363		2203	4300	6503	SO:0001819	synonymous_variant	26020	exon5			GCCTGGCAATTTC	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1206C>T	14.37:g.23345363C>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	71	9	NM_014045	0	0	68	77	9	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820702	0.16678	.	.	ENSG00000197324	ENST00000551466	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.8755	14.0852	0.64951	0.1507:0.8493:0.0:0.0	.	.	.	.	X	304	.	.	Q	+	1	0	LRP10	22415203	0.916000	0.31088	1.000000	0.80357	0.991000	0.79684	0.032000	0.13732	2.837000	0.97791	0.655000	0.94253	CAA	.		0.597	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			T	23345363	C	T	23345363	2	4	54	1	0	0	0	0	0	0	0	1	8987	697	25	3		3	LRP10	14	23345363	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		23345363	84004177	69	11540											
EXOC5	10640	bcgsc.ca	37	chr14	57714427	57714427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atattcatctgccacaaaagGctcctagtttacaaaaaaat	4	9	2	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr14:57714427G>T	ENST00000413566.2	-	2	390	c.31C>A	c.(31-33)Cct>Act	p.P11T	EXOC5_ENST00000340918.7_Missense_Mutation_p.P11T|EXOC5_ENST00000556911.1_5'Flank	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	11					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GCCACAAAAGGCTCCTAGTTT	0.333																																					p.P11T		.											.	EXOC5-137	0			c.C31A						.						23	21	21					14																	57714427		1782	4053	5835	SO:0001583	missense	10640	exon2			CAAAAGGCTCCTA	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.31C>A	14.37:g.57714427G>T	ENSP00000389934:p.Pro11Thr	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	135	5	NM_006544	0	0	0	0	0	B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708609	0.68615	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.64085	-0.08;-0.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.64404	1.975	0.80722	D	1	P;P	0.37330	0.59;0.455	B;B	0.41036	0.346;0.188	T	0.70791	-0.4776	10	0.72032	D	0.01	-12.1402	19.2566	0.93948	0.0:0.0:1.0:0.0	.	11;11	F8W9B8;O00471	.;EXOC5_HUMAN	T	11	ENSP00000389934:P11T;ENSP00000342100:P11T	ENSP00000342100:P11T	P	-	1	0	EXOC5	56784180	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.100000	0.94213	2.628000	0.89032	0.585000	0.79938	CCT	.		0.333	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		T	57714427	G	T	57714427	3	4	54	1	0	0	0	0	1	0	0	0	5323	1203	42	3	2163	3	EXOC5	14	57714427	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	34369064	57714427	49635113	70	11541											
MTHFD1	4522	broad.mit.edu	37	chr14	64884686	64884686	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcatgacttgcttctgTggaacaatgccacagtgacc	10	11	1	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr14:64884686T>G	ENST00000545908.1	+	7	956	c.727T>G	c.(727-729)Tgg>Ggg	p.W243G	MTHFD1_ENST00000216605.8_Missense_Mutation_p.W187G			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	187	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTTGCTTCTGTGGAACAATGC	0.572																																					p.W187G	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	.											.	MTHFD1-92	0			c.T559G						.						94	77	83					14																	64884686		2203	4300	6503	SO:0001583	missense	4522	exon7			CTTCTGTGGAACA	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.727T>G	14.37:g.64884686T>G	ENSP00000438588:p.Trp243Gly	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	69	6	NM_005956	0	0	42	42	0	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	T	12.24	1.877840	0.33162	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.17	5.17	0.71159	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	L	0.58925	1.835	0.80722	D	1	B;B;P	0.45634	0.08;0.202;0.863	B;B;B	0.41088	0.015;0.065;0.347	T	0.46247	-0.9205	10	0.13108	T	0.6	-7.6928	15.0289	0.71691	0.0:0.0:0.0:1.0	.	243;187;187	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	G	243;187;243;167	ENSP00000438588:W243G;ENSP00000450560:W187G;ENSP00000216605:W243G;ENSP00000451309:W167G	ENSP00000216605:W187G	W	+	1	0	MTHFD1	63954439	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.452000	0.80683	1.955000	0.56771	0.459000	0.35465	TGG	.		0.572	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			G	64884686	T	G	64884686	3	3	54	1	0	0	0	0	1	0	0	0	9965	1696	59	5	585	5	MTHFD1	14	64884686	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	7170259	64884686	42464854	71	11542											
ADAM21	8747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	70926008	70926008	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtattgactatcatttaAggatgaacatatctgacatt	9	5	2	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr14:70926008A>C	ENST00000603540.1	+	2	2050	c.1792A>C	c.(1792-1794)Agg>Cgg	p.R598R	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.R598R	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	598	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTATCATTTAAGGATGAACAT	0.423																																					p.R598R		.											.	ADAM21-92	0			c.A1792C						.						151	138	143					14																	70926008		2203	4300	6503	SO:0001819	synonymous_variant	8747	exon2			CATTTAAGGATGA	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.1792A>C	14.37:g.70926008A>C		Somatic	363	1		WXS	Illumina GAIIx	Phase_I	313	146	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																			.		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			C	70926008	A	C	70926008	2	2	54	1	0	0	0	0	0	0	0	1	243	63	3	5		5	ADAM21	14	70926008	Silent	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	6041322	70926008	36423532	72	11543											
FAM161B	145483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	74411292	74411292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggggcaggtagacaTgtgcaggcacaggctgtgcc	18	8	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr14:74411292T>A	ENST00000534936.1	-	3	776	c.671A>T	c.(670-672)cAt>cTt	p.H224L	FAM161B_ENST00000286544.3_Missense_Mutation_p.H287L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	224										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGGTAGACATGTGCAGGCAC	0.617																																					p.H287L		.											.	FAM161B-91	0			c.A860T						.						48	49	48					14																	74411292		2203	4300	6503	SO:0001583	missense	145483	exon3			TAGACATGTGCAG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.671A>T	14.37:g.74411292T>A	ENSP00000445326:p.His224Leu	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	65	27	NM_152445	0	0	1	3	2	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	T	26.1	4.708333	0.89018	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.21932	1.98;1.98	5.26	5.26	0.73747	.	0.155316	0.44902	D	0.000407	T	0.48822	0.1521	M	0.80616	2.505	0.58432	D	0.999995	D	0.89917	1.0	D	0.77557	0.99	T	0.51387	-0.8712	10	0.51188	T	0.08	-16.7414	15.3487	0.74363	0.0:0.0:0.0:1.0	.	224	Q96MY7	F161B_HUMAN	L	287;224	ENSP00000286544:H287L;ENSP00000445326:H224L	ENSP00000286544:H287L	H	-	2	0	FAM161B	73481045	1.000000	0.71417	0.561000	0.28357	0.995000	0.86356	7.513000	0.81739	2.208000	0.71279	0.460000	0.39030	CAT	.		0.617	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		A	74411292	T	A	74411292	3	1	54	1	0	0	0	0	1	0	0	0	5492	1464	51	5	1300	5	FAM161B	14	74411292	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10	3485284	74411292	32938248	73	11544											
CEP152	22995	hgsc.bcm.edu	37	chr15	49034286	49034286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttactctcctgaatataacGaagcatgtcacctataggga	7	10	2	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr15:49034286G>T	ENST00000380950.2	-	25	4034	c.3847C>A	c.(3847-3849)Cgt>Agt	p.R1283S	CEP152_ENST00000325747.5_Missense_Mutation_p.R1190S|CEP152_ENST00000399334.3_Missense_Mutation_p.R1227S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1283					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)	p.R1227C(1)		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)		TGAATATAACGAAGCATGTCA	0.418																																					p.R1283S		.											.	CEP152-70	1	Substitution - Missense(1)	large_intestine(1)	c.C3847A						.						130	114	119					15																	49034286		1873	4112	5985	SO:0001583	missense	22995	exon25			TATAACGAAGCAT	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.3847C>A	15.37:g.49034286G>T	ENSP00000370337:p.Arg1283Ser	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	75	4	NM_001194998	0	0	0	0	0	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171878	0.78452	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.56611	0.46;0.53;0.45	6.03	5.1	0.69264	.	0.137636	0.48767	D	0.000162	T	0.67392	0.2888	M	0.65498	2.005	0.50632	D	0.999886	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68353	0.957;0.957;0.957	T	0.69049	-0.5248	10	0.52906	T	0.07	-6.8434	11.0386	0.47816	0.0737:0.1314:0.795:0.0	.	1190;1283;1227	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	1283;1190;1227	ENSP00000370337:R1283S;ENSP00000321000:R1190S;ENSP00000382271:R1227S	ENSP00000321000:R1190S	R	-	1	0	CEP152	46821578	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.784000	0.55416	1.536000	0.49237	0.655000	0.94253	CGT	.		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49034286	G	T	49034286	3	4	54	1	0	0	0	0	1	0	0	0	3255	1058	37	2	1297	2	CEP152	15	49034286	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		49034286	53497106	74	11545											
PML	5371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	74335395	74335395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggaaggccccagcacCctcagggtcctggacgagaa	13	14	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr15:74335395C>T	ENST00000268058.3	+	8	1872	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	PML_ENST00000565898.1_Silent_p.T544T|PML_ENST00000569965.1_3'UTR|PML_ENST00000395135.3_Silent_p.T592T|PML_ENST00000359928.4_3'UTR|PML_ENST00000564428.1_Silent_p.T544T	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	592					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCCCCAGCACCCTCAGGGTCC	0.552			T	"RARA, PAX5"	"APL, ALL"																																p.T592T		.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML-1083	0			c.C1776T						.						101	99	99					15																	74335395		2198	4297	6495	SO:0001819	synonymous_variant	5371	exon8			CAGCACCCTCAGG	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1776C>T	15.37:g.74335395C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	75	9	NM_002675	0	0	0	1	1	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																			.		0.552	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74335395	C	T	74335395	2	4	54	1	0	0	0	0	0	0	0	1	12174	610	22	3		3	PML	15	74335395	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	25301109	74335395	28195997	75	11546											
LRRK1	79705	broad.mit.edu	37	chr15	101528910	101528910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgagggcacctgggggttGtgaagctcctggtcctgacg	17	10	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr15:101528910G>T	ENST00000388948.3	+	5	864	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	LRRK1_ENST00000532029.2_Missense_Mutation_p.V169L|LRRK1_ENST00000284395.5_Missense_Mutation_p.V166L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGGGTTGTGAAGCTCCT	0.622																																					p.V169L		.											.	LRRK1-602	0			c.G505T						.						67	72	71					15																	101528910		2036	4174	6210	SO:0001583	missense	79705	exon5			GGGGTTGTGAAGC	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.505G>T	15.37:g.101528910G>T	ENSP00000373600:p.Val169Leu	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	52	3	NM_024652	0	0	0	0	0		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365025	0.82463	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.71579	-0.58;0.27;-0.58	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	D	0.82981	0.5155	M	0.62266	1.93	0.58432	D	0.99999	P;D	0.89917	0.794;1.0	B;D	0.83275	0.372;0.996	D	0.83966	0.0324	10	0.66056	D	0.02	.	18.3807	0.90449	0.0:0.0:1.0:0.0	.	169;169	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	L	169;166;169	ENSP00000373600:V169L;ENSP00000284395:V166L;ENSP00000433268:V169L	ENSP00000284395:V166L	V	+	1	0	LRRK1	99346433	1.000000	0.71417	0.968000	0.41197	0.378000	0.30076	8.284000	0.89912	2.591000	0.87537	0.650000	0.86243	GTG	.		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101528910	G	T	101528910	3	4	54	1	0	0	0	0	1	0	0	0	9067	1377	48	3	519	3	LRRK1	15	101528910	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	27193515	101528910	1002482	76	11547											
CCNF	899	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	2506732	2506732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctggtccgcaccagccGggagccagggaaggacgtca	14	15	1	0	rs148419125	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr16:2506732G>A	ENST00000397066.4	+	17	2160	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	691	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGCACCAGCCGGGAGCCAGGG	0.672													G|||	2	0.000399361	0	0	5008	,	,		20909	0.001		0.001	False		,,,				2504	0				p.R691Q		.											.	CCNF-658	0			c.G2072A						.	G	GLN/ARG	0,4396		0,0,2198	67	60	63		2072	-1.8	0	16	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CCNF	NM_001761.2	43	0,4,6494	AA,AG,GG		0.0465,0.0,0.0308	benign	691/787	2506732	4,12992	2198	4300	6498	SO:0001583	missense	899	exon17			CCAGCCGGGAGCC	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2072G>A	16.37:g.2506732G>A	ENSP00000380256:p.Arg691Gln	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	145	31	NM_001761	0	0	2	2	0	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.872	0.728457	0.15507	0.0	4.65E-4	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25749	1.78	5.43	-1.84	0.07809	.	1.194080	0.05811	N	0.613964	T	0.16938	0.0407	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.13470	T	0.59	-3.2634	7.2658	0.26229	0.2316:0.3572:0.4112:0.0	.	691	P41002	CCNF_HUMAN	Q	691;606	ENSP00000380256:R691Q	ENSP00000293968:R606Q	R	+	2	0	CCNF	2446733	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.128000	0.10531	-0.929000	0.03757	-2.481000	0.00198	CGG	G|1.000;A|0.000		0.672	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		A	2506732	G	A	2506732	3	1	54	1	0	0	0	0	1	0	0	0	2929	1116	39	1	2138	1	CCNF	16	2506732	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		2506732	87848021	77	11548											
DNAH3	55567	broad.mit.edu	37	chr16	20966303	20966303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggagccctttgggggGctcattggtcattttgattc	14	10	2	1	rs148915896	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr16:20966303G>T	ENST00000261383.3	-	55	10902	c.10903C>A	c.(10903-10905)Ccc>Acc	p.P3635T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3635	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTTTGGGGGGCTCATTGGTC	0.517																																					p.P3635T		.											.	DNAH3-167	0			c.C10903A						.						104	103	103					16																	20966303		2201	4300	6501	SO:0001583	missense	55567	exon55			TGGGGGGCTCATT	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.10903C>A	16.37:g.20966303G>T	ENSP00000261383:p.Pro3635Thr	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	70	3	NM_017539	0	0	0	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830347	0.91036	.	.	ENSG00000158486	ENST00000261383	T	0.15139	2.45	5.43	5.43	0.79202	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78811	-0.2057	10	0.87932	D	0	.	19.2436	0.93893	0.0:0.0:1.0:0.0	.	3635	Q8TD57	DYH3_HUMAN	T	3635	ENSP00000261383:P3635T	ENSP00000261383:P3635T	P	-	1	0	DNAH3	20873804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.817000	0.99352	2.543000	0.85770	0.655000	0.94253	CCC	G|1.000;A|0.000		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20966303	G	T	20966303	3	4	54	1	0	0	0	0	1	0	0	0	4617	1203	42	3	1478	3	DNAH3	16	20966303	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	18459571	20966303	69388450	78	11549											
ZFPM1	161882	broad.mit.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	15	9	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	54	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-OR-A5LL-01A-11D-A29I-10	67633393	88599696	1755057	79	11550											
NLRP1	22861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	5424256	5424256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacacagtgtaacgacagCccatataaagtggggtcagc	11	10	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr17:5424256C>T	ENST00000572272.1	-	14	3859	c.3860G>A	c.(3859-3861)gGc>gAc	p.G1287D	NLRP1_ENST00000262467.5_Missense_Mutation_p.G1291D|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.G1257D|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1287					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.G1287D(2)|p.G1291D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTAACGACAGCCCATATAAAG	0.498																																					p.G1291D		.											.	NLRP1-274	3	Substitution - Missense(3)	lung(3)	c.G3872A						.						84	72	76					17																	5424256		2203	4300	6503	SO:0001583	missense	22861	exon14			CGACAGCCCATAT	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.3860G>A	17.37:g.5424256C>T	ENSP00000460475:p.Gly1287Asp	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	24	21	NM_001033053	0	0	0	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075573	0.55646	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T;T	0.42900	0.96;0.96;2.27;0.96	4.59	3.62	0.41486	.	0.000000	0.39544	N	0.001337	T	0.60314	0.2259	M	0.73598	2.24	0.23449	N	0.997657	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51419	-0.8708	10	0.87932	D	0	.	8.7769	0.34767	0.0:0.8965:0.0:0.1035	.	1257;1287;1291	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	D	1291;1291;1287;1257	ENSP00000442029:G1291D;ENSP00000262467:G1291D;ENSP00000269280:G1287D;ENSP00000346390:G1257D	ENSP00000262467:G1291D	G	-	2	0	NLRP1	5364980	0.999000	0.42202	0.026000	0.17262	0.011000	0.07611	3.327000	0.52045	1.303000	0.44873	0.644000	0.83932	GGC	.		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5424256	C	T	5424256	3	4	54	1	0	0	0	0	1	0	0	0	10510	739	26	3	640	3	NLRP1	17	5424256	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10		5424256	75770954	80	11551											
MFSD6L	162387	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8702218	8702218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaagcgctctccttttcCggtagcttttggccaggaag	11	11	2	1	rs111726322	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr17:8702218C>T	ENST00000329805.4	-	1	449	c.221G>A	c.(220-222)cGg>cAg	p.R74Q		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	74						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCTTTTCCGGTAGCTTTT	0.632													C|||	3	0.000599042	0.0023	0	5008	,	,		15531	0		0	False		,,,				2504	0				p.R74Q		.											.	MFSD6L-90	0			c.G221A						.						56	63	60					17																	8702218		2203	4300	6503	SO:0001583	missense	162387	exon1			CTTTTCCGGTAGC	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.221G>A	17.37:g.8702218C>T	ENSP00000330051:p.Arg74Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	67	20	NM_152599	0	0	0	0	0	Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	5.972	0.363228	0.11296	.	.	ENSG00000185156	ENST00000329805	T	0.80824	-1.42	4.71	2.28	0.28536	Major facilitator superfamily domain, general substrate transporter (1);	0.524413	0.18914	N	0.127676	T	0.51550	0.1681	N	0.02721	-0.515	0.25505	N	0.987519	B	0.14805	0.011	B	0.09377	0.004	T	0.38757	-0.9646	10	0.08179	T	0.78	-7.178	6.9943	0.24774	0.0:0.3233:0.0:0.6767	.	74	Q8IWD5	MFS6L_HUMAN	Q	74	ENSP00000330051:R74Q	ENSP00000330051:R74Q	R	-	2	0	MFSD6L	8642943	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	0.638000	0.24674	0.238000	0.21222	-0.345000	0.07892	CGG	C|0.986;A|0.014		0.632	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		T	8702218	C	T	8702218	3	4	54	1	0	0	0	0	1	0	0	0	9574	652	23	1	1543	1	MFSD6L	17	8702218	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	3277962	8702218	72492992	81	11552											
MYH3	4621	ucsc.edu;bcgsc.ca	37	chr17	10551910	10551910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcctcacagtcttggcGttcccaaaggcctccagcag	8	15	3	0	rs16943604	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr17:10551910G>A	ENST00000583535.1	-	8	786	c.699C>T	c.(697-699)aaC>aaT	p.N233N	MYH3_ENST00000226209.7_Silent_p.N233N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	233	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGTCTTGGCGTTCCCAAAGG	0.453													G|||	62	0.0123802	0.0333	0.0115	5008	,	,		19056	0		0.003	False		,,,				2504	0.0072				p.N233N		.											.	MYH3-95	0			c.C699T						.	G		127,4279	93.4+/-132.2	4,119,2080	128	124	125		699	-6.8	0.8	17	dbSNP_123	125	43,8557	28.5+/-78.6	0,43,4257	no	coding-synonymous	MYH3	NM_002470.3		4,162,6337	AA,AG,GG		0.5,2.8824,1.3071		233/1941	10551910	170,12836	2203	4300	6503	SO:0001819	synonymous_variant	4621	exon8			CTTGGCGTTCCCA		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.699C>T	17.37:g.10551910G>A		Somatic	213	3		WXS	Illumina GAIIx	Phase_I	212	45	NM_002470	0	0	0	0	0	Q15492	Silent	SNP	ENST00000583535.1	37	CCDS11157.1																																																																																			G|0.987;A|0.013		0.453	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10551910	G	A	10551910	2	1	54	1	0	0	0	0	0	0	0	1	10074	1136	40	1		1	MYH3	17	10551910	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	1849692	10551910	70643300	82	11553											
RAI1	10743	broad.mit.edu	37	chr17	17700826	17700826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagccccagacaaggGcacagaaacagccaggccac	10	17	0	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr17:17700826G>T	ENST00000353383.1	+	3	5033	c.4564G>T	c.(4564-4566)Gca>Tca	p.A1522S	RAI1_ENST00000261641.6_Missense_Mutation_p.A1522S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1522					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAGACAAGGGCACAGAAACA	0.637																																					p.A1522S		.											.	RAI1-91	0			c.G4564T						.						50	60	57					17																	17700826		2203	4300	6503	SO:0001583	missense	10743	exon3			ACAAGGGCACAGA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4564G>T	17.37:g.17700826G>T	ENSP00000323074:p.Ala1522Ser	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	99	3	NM_030665	0	0	16	16	0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726751	0.30593	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.66995	-0.24;0.32	5.03	5.03	0.67393	.	0.078008	0.52532	D	0.000065	T	0.53753	0.1816	L	0.32530	0.975	0.27825	N	0.941667	B	0.20368	0.044	B	0.19148	0.024	T	0.44682	-0.9312	10	0.32370	T	0.25	.	11.6202	0.51113	0.0824:0.0:0.9176:0.0	.	1522	Q7Z5J4	RAI1_HUMAN	S	1522;1522;1522;1410	ENSP00000323074:A1522S;ENSP00000261641:A1522S	ENSP00000261641:A1522S	A	+	1	0	RAI1	17641551	0.988000	0.35896	0.995000	0.50966	0.993000	0.82548	2.108000	0.41854	2.621000	0.88768	0.561000	0.74099	GCA	.		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17700826	G	T	17700826	3	4	54	1	0	0	0	0	1	0	0	0	13052	1203	42	3	4566	3	RAI1	17	17700826	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	7148916	17700826	63494384	83	11554											
CD300A	11314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72470793	72470793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacccacagtgccagcatcCaggaggaaactgaggaggtg	13	12	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr17:72470793C>A	ENST00000360141.3	+	3	790	c.502C>A	c.(502-504)Cag>Aag	p.Q168K	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Missense_Mutation_p.Q55K|CD300A_ENST00000392625.3_Missense_Mutation_p.Q55K|CD300A_ENST00000577511.1_Missense_Mutation_p.Q38K	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	168					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCCAGCATCCAGGAGGAAAC	0.572																																					p.Q168K		.											.	CD300A-92	0			c.C502A						.						131	98	109					17																	72470793		2203	4300	6503	SO:0001583	missense	11314	exon3			AGCATCCAGGAGG	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.502C>A	17.37:g.72470793C>A	ENSP00000353259:p.Gln168Lys	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	135	25	NM_007261	0	0	0	0	0	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746362	0.15710	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.41758	4.24;0.99	2.9	0.852	0.18995	.	3.203550	0.01149	N	0.006364	T	0.32164	0.0820	L	0.38175	1.15	0.09310	N	1	B;B;P	0.37466	0.137;0.288;0.596	B;B;B	0.32465	0.046;0.046;0.146	T	0.26503	-1.0101	10	0.62326	D	0.03	.	4.4422	0.11579	0.0:0.6369:0.2302:0.1329	.	55;55;168	Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	K	168;55;55	ENSP00000353259:Q168K;ENSP00000308188:Q55K	ENSP00000308188:Q55K	Q	+	1	0	CD300A	69982388	0.002000	0.14202	0.006000	0.13384	0.001000	0.01503	0.029000	0.13666	0.271000	0.22005	-0.219000	0.12488	CAG	.		0.572	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		A	72470793	C	A	72470793	3	1	54	1	0	0	0	0	1	0	0	0	3003	595	21	3	512	3	CD300A	17	72470793	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	54769967	72470793	8724417	84	11555											
LONP1	9361	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	5707755	5707755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgggactcggccccggTgagcgcggcgcccatgtcgc	15	16	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr19:5707755T>G	ENST00000360614.3	-	6	1172	c.1015A>C	c.(1015-1017)Acc>Ccc	p.T339P	LONP1_ENST00000585374.1_Missense_Mutation_p.T225P|LONP1_ENST00000590729.1_Missense_Mutation_p.T209P|LONP1_ENST00000593119.1_Missense_Mutation_p.T275P|LONP1_ENST00000540670.2_Missense_Mutation_p.T143P	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGGCCCCGGTGAGCGCGGCG	0.662																																					p.F339L		.											.	LONP1-91	0			c.T1015C						.						58	59	59					19																	5707755		2203	4299	6502	SO:0001583	missense	9361	exon6			CCCCGGTGAGCGC	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1015A>C	19.37:g.5707755T>G	ENSP00000353826:p.Thr339Pro	Somatic	203	1		WXS	Illumina GAIIx	Phase_I	158	26	NM_004793	0	0	85	117	32		Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159243	0.38119	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.45668	0.89;0.89	4.63	4.63	0.57726	Peptidase S16, lon N-terminal (2);	0.051589	0.85682	D	0.000000	T	0.51753	0.1693	M	0.85945	2.785	0.53688	D	0.999978	B;B;B	0.24092	0.097;0.054;0.097	B;B;B	0.33254	0.16;0.16;0.16	T	0.57613	-0.7781	10	0.66056	D	0.02	-39.3211	11.9998	0.53224	0.0:0.0:0.0:1.0	.	339;275;339	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	P	339;303;143	ENSP00000353826:T339P;ENSP00000441523:T143P	ENSP00000351177:T303P	T	-	1	0	LONP1	5658755	1.000000	0.71417	0.892000	0.35008	0.043000	0.13939	7.577000	0.82486	1.716000	0.51395	0.454000	0.30748	ACC	.		0.662	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		G	5707755	T	G	5707755	3	3	54	1	0	0	0	0	1	0	0	0	8927	1696	59	5	1916	5	LONP1	19	5707755	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10		5707755	53421228	85	11556											
QTRT1	81890	hgsc.bcm.edu;broad.mit.edu	37	chr19	10823651	10823651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccgcgccttcctgcacGcactgctgcacagtgacaac	9	17	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr19:10823651G>A	ENST00000250237.5	+	9	1004	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	332					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCCTGCACGCACTGCTGCA	0.697																																					p.A332T		.											.	QTRT1-91	0			c.G994A						.						40	34	36					19																	10823651		2203	4296	6499	SO:0001583	missense	81890	exon9			CTGCACGCACTGC	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.994G>A	19.37:g.10823651G>A	ENSP00000250237:p.Ala332Thr	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_031209	0	0	51	53	2	B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	5.889	0.348182	0.11126	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.33	-0.501	0.12008	.	0.147971	0.43416	N	0.000562	T	0.39200	0.1069	N	0.25380	0.74	0.47037	D	0.999296	B	0.02656	0.0	B	0.09377	0.004	T	0.09707	-1.0662	9	0.56958	D	0.05	-7.3286	8.8853	0.35400	0.3313:0.0:0.6687:0.0	.	332	Q9BXR0	TGT_HUMAN	T	332	.	ENSP00000250237:A332T	A	+	1	0	QTRT1	10684651	0.844000	0.29557	0.588000	0.28705	0.025000	0.11179	1.754000	0.38369	-0.274000	0.09232	-0.424000	0.05967	GCA	.		0.697	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		A	10823651	G	A	10823651	3	1	54	1	0	0	0	0	1	0	0	0	12930	1087	38	1	1028	1	QTRT1	19	10823651	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	5115896	10823651	48305332	86	11557											
CCDC105	126402	hgsc.bcm.edu	37	chr19	15133926	15133926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagagcagcgcggacCcctagtgaccccagcgtccc	12	17	0	2	rs8112667	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr19:15133926C>A	ENST00000292574.3	+	7	1577	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	499			P -> T (in dbSNP:rs8112667).			extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CAGCGCGGACCCCTAGTGACC	0.716													c|||	1705	0.340455	0.1929	0.438	5008	,	,		11943	0.5208		0.2326	False		,,,				2504	0.3957				p.P499T		.											.	CCDC105-91	0			c.C1495A						.		THR/PRO	868,3356		95,678,1339	7	9	8		1495	-6.6	0	19	dbSNP_116	8	1799,6519		206,1387,2566	yes	missense	CCDC105	NM_173482.2	38	301,2065,3905	AA,AC,CC		21.6278,20.5492,21.2646	benign	499/500	15133926	2667,9875	2112	4159	6271	SO:0001583	missense	126402	exon7			GCGGACCCCTAGT	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1495C>A	19.37:g.15133926C>A	ENSP00000292574:p.Pro499Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_173482	0	0	0	0	0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	718	0.32875457875457875	102	0.2073170731707317	139	0.3839779005524862	297	0.5192307692307693	180	0.23746701846965698	c	12.70	2.017064	0.35606	0.205492	0.216278	ENSG00000160994	ENST00000292574	T	0.15139	2.45	3.29	-6.58	0.01836	.	1.321340	0.05609	N	0.577760	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44528	-0.9322	9	0.87932	D	0	.	0.9387	0.01351	0.3527:0.1586:0.3022:0.1865	rs8112667;rs59368867;rs8112667	499	Q8IYK2	CC105_HUMAN	T	499	ENSP00000292574:P499T	ENSP00000292574:P499T	P	+	1	0	CCDC105	14994926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-1.857000	0.01159	-1.528000	0.00924	CCC	C|0.671;A|0.329		0.716	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133926	C	A	15133926	3	1	54	1	0	0	0	0	1	0	0	0	2747	623	22	3	1521	3	CCDC105	19	15133926	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	4310275	15133926	43995057	87	11558											
UPF1	5976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	18966869	18966869	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccccggtgtcttttctggcCctgcacaaccagatcaggaa	9	14	3	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr19:18966869C>G	ENST00000599848.1	+	12	1922	c.1713C>G	c.(1711-1713)gcC>gcG	p.A571A	UPF1_ENST00000262803.5_Silent_p.A560A			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	571					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTTTCTGGCCCTGCACAACC	0.592																																					p.A560A		.											.	UPF1-91	0			c.C1680G						.						69	58	62					19																	18966869		2203	4300	6503	SO:0001819	synonymous_variant	5976	exon12			TCTGGCCCTGCAC	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1713C>G	19.37:g.18966869C>G		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	119	24	NM_002911	0	0	26	34	8	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																				.		0.592	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		G	18966869	C	G	18966869	2	3	54	1	0	0	0	0	0	0	0	1	17052	610	22	3		3	UPF1	19	18966869	Silent	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	3832943	18966869	40162114	88	11559											
C19orf2	8725	broad.mit.edu	37	chr19	30500035	30500035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcatactccttgtcataaGgatgttgcaagttcagaacc	7	10	3	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr19:30500035G>C	ENST00000542441.2	+	8	1107	c.810G>C	c.(808-810)aaG>aaC	p.K270N	URI1_ENST00000392271.1_Missense_Mutation_p.K194N|URI1_ENST00000360605.4_Missense_Mutation_p.K252N|URI1_ENST00000312051.6_Missense_Mutation_p.K230N			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	270					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)										CTTGTCATAAGGATGTTGCAA	0.403																																					p.K270N		.											.	.	0			c.G810C						.						147	118	128					19																	30500035		2203	4299	6502	SO:0001583	missense	8725	exon8			TCATAAGGATGTT	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.810G>C	19.37:g.30500035G>C	ENSP00000442436:p.Lys270Asn	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	78	4	NM_003796	0	0	43	46	3	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450483	0.26074	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.08102	3.13;3.13;3.13	5.57	-0.861	0.10676	.	0.869927	0.10572	N	0.659032	T	0.02342	0.0072	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.45614	-0.9249	10	0.18276	T	0.48	5.096	0.9877	0.01450	0.2964:0.2768:0.286:0.1408	.	230;270;268	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	N	268;194;270;230	ENSP00000376097:K194N;ENSP00000442436:K270N;ENSP00000312530:K230N	ENSP00000312530:K230N	K	+	3	2	C19orf2	35191875	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	0.087000	0.14958	-0.268000	0.09312	0.313000	0.20887	AAG	.		0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		C	30500035	G	C	30500035	3	2	54	1	0	0	0	0	1	0	0	0	1918	991	35	3	840	3	C19orf2	19	30500035	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	11533166	30500035	28628948	89	11560											
C20orf186	149954	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	31671359	31671359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagcatcagggacctccGaaacagtggctatcgcagtg	14	10	1	0	rs373461211		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr20:31671359G>A	ENST00000375483.3	+	3	356	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	119						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGGGACCTCCGAAACAGTGGC	0.587																																					p.R119Q		.											.	.	0			c.G356A						.	G	GLN/ARG	0,4406		0,0,2203	72	66	68		356	1.2	0	20		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB4	NM_182519.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	119/615	31671359	1,13005	2203	4300	6503	SO:0001583	missense	149954	exon3			ACCTCCGAAACAG	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.356G>A	20.37:g.31671359G>A	ENSP00000364632:p.Arg119Gln	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	125	8	NM_182519	0	0	0	0	0	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	2.522	-0.310518	0.05458	0.0	1.16E-4	ENSG00000186191	ENST00000375483	T	0.01495	4.83	3.28	1.18	0.20946	.	1.013370	0.07936	N	0.978416	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.48198	-0.9056	10	0.46703	T	0.11	-0.5271	4.6783	0.12722	0.1301:0.2236:0.6463:0.0	.	119	P59827	BPIB4_HUMAN	Q	119	ENSP00000364632:R119Q	ENSP00000364632:R119Q	R	+	2	0	BPIFB4	31135020	0.569000	0.26643	0.030000	0.17652	0.031000	0.12232	0.806000	0.27126	0.197000	0.20387	-0.362000	0.07510	CGA	.		0.587	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		A	31671359	G	A	31671359	3	1	54	1	0	0	0	0	1	0	0	0	2105	1058	37	1	366	1	C20orf186	20	31671359	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		31671359	31354161	90	11561											
TFAP2C	7022	broad.mit.edu	37	chr20	55206414	55206414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctccctaccagcagctgGcctactcccagtcggccgac	8	21	0	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr20:55206414G>A	ENST00000201031.2	+	2	445	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	68	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCAGCAGCTGGCCTACTCCCA	0.697																																					p.A68T		.											.	TFAP2C-514	0			c.G202A						.						31	31	31					20																	55206414		2203	4300	6503	SO:0001583	missense	7022	exon2			CAGCTGGCCTACT		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.202G>A	20.37:g.55206414G>A	ENSP00000201031:p.Ala68Thr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	75	4	NM_003222	0	0	1	1	0	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	G	8.786	0.929331	0.18131	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	T;T	0.77489	-1.1;-1.1	5.57	2.4	0.29515	.	0.266800	0.43747	N	0.000526	T	0.64394	0.2594	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56318	-0.7999	10	0.23302	T	0.38	-26.8187	6.5046	0.22188	0.1871:0.3132:0.4997:0.0	.	68	Q92754	AP2C_HUMAN	T	68;56	ENSP00000201031:A68T;ENSP00000390857:A56T	ENSP00000201031:A68T	A	+	1	0	TFAP2C	54639821	1.000000	0.71417	0.988000	0.46212	0.868000	0.49771	1.328000	0.33758	1.358000	0.45922	0.561000	0.74099	GCC	.		0.697	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		A	55206414	G	A	55206414	3	1	54	1	0	0	0	0	1	0	0	0	15836	1203	42	3	208	3	TFAP2C	20	55206414	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	23535055	55206414	7819106	91	11562											
CTCFL	140690	hgsc.bcm.edu;broad.mit.edu	37	chr20	56090847	56090847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcaacactgaaaggggCgctccccagtgtgggatcgg	15	11	0	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr20:56090847C>T	ENST00000608263.1	-	5	1764	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	CTCFL_ENST00000422869.2_Missense_Mutation_p.R368H|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000609232.1_Missense_Mutation_p.R368H|CTCFL_ENST00000371196.2_Missense_Mutation_p.R368H|CTCFL_ENST00000608440.1_Missense_Mutation_p.R368H|CTCFL_ENST00000429804.3_Missense_Mutation_p.R368H|CTCFL_ENST00000608425.1_Missense_Mutation_p.R368H|CTCFL_ENST00000243914.3_Missense_Mutation_p.R368H|CTCFL_ENST00000423479.3_Missense_Mutation_p.R368H|CTCFL_ENST00000539382.1_Missense_Mutation_p.R163H|CTCFL_ENST00000608903.1_Missense_Mutation_p.R106H|CTCFL_ENST00000433949.3_Missense_Mutation_p.R163H|CTCFL_ENST00000502686.2_Missense_Mutation_p.R106H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	368					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)	p.R368H(1)		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)			CTGAAAGGGGCGCTCCCCAGT	0.478																																					p.R368H		.											.	CTCFL-292	1	Substitution - Missense(1)	large_intestine(1)	c.G1103A						.						168	160	162					20																	56090847		2203	4300	6503	SO:0001583	missense	140690	exon5			AAGGGGCGCTCCC		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.1103G>A	20.37:g.56090847C>T	ENSP00000476783:p.Arg368His	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	44	5	NM_001269044	0	0	0	0	0	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	34	5.309861	0.95629	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.24	5.24	0.73138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000406	T	0.46073	0.1374	M	0.64260	1.97	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	0.999;1.0;1.0;1.0;1.0	T	0.39418	-0.9615	10	0.72032	D	0.01	-44.5807	17.9608	0.89084	0.0:1.0:0.0:0.0	.	368;368;368;368;368	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	368;368;368;368;368;106;368;368;163;368	ENSP00000415579:R368H;ENSP00000243914:R368H;ENSP00000360239:R368H;ENSP00000415329:R368H;ENSP00000392034:R368H;ENSP00000437999:R106H;ENSP00000413713:R368H;ENSP00000403369:R368H;ENSP00000439998:R163H;ENSP00000399061:R368H	ENSP00000243914:R368H	R	-	2	0	CTCFL	55524253	1.000000	0.71417	0.949000	0.38748	0.796000	0.44982	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	CGC	.		0.478	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		T	56090847	C	T	56090847	3	4	54	1	0	0	0	0	1	0	0	0	4010	768	27	1	912	1	CTCFL	20	56090847	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	884433	56090847	6934673	92	11563											
CDH4	1002	broad.mit.edu	37	chr20	60348208	60348208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaacgtgcccgagaactcGcgcgggcccttcccgcagca	11	17	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr20:60348208G>A	ENST00000360469.5	+	4	634	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CDH4_ENST00000543233.1_Silent_p.S108S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	182	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGAGAACTCGCGCGGGCCCT	0.692																																					p.S182S		.											.	CDH4-282	0			c.G546A						.						18	16	17					20																	60348208		2194	4294	6488	SO:0001819	synonymous_variant	1002	exon4			GAACTCGCGCGGG	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.546G>A	20.37:g.60348208G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	104	4	NM_001794	0	0	0	0	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																			.		0.692	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60348208	G	A	60348208	2	1	54	1	0	0	0	0	0	0	0	1	3119	1074	38	1		1	CDH4	20	60348208	Silent	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	4257361	60348208	2677312	93	11564											
OLIG2	10215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	34399459	34399459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgtcgtccaccaagaagGacaagaagcaaatgacagag	11	10	0	4			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr21:34399459G>A	ENST00000333337.3	+	1	1217	c.289G>A	c.(289-291)Gac>Aac	p.D97N	AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.D97N			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	97					myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CACCAAGAAGGACAAGAAGCA	0.607			T	TRA@	T-ALL																																p.D97N		.		Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	.	OLIG2-629	0			c.G289A						.						24	25	25					21																	34399459		2201	4300	6501	SO:0001583	missense	10215	exon2			AAGAAGGACAAGA	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"Basic helix-loop-helix proteins"	9398	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 2", "protein kinase C binding protein 2", "human protein kinase C-binding protein RACK17", "basic domain, helix-loop-helix protein, class B, 1"	606386	"protein kinase C binding protein 2"	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.289G>A	21.37:g.34399459G>A	ENSP00000331040:p.Asp97Asn	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	132	25	NM_005806	0	0	0	0	0	B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	ENST00000333337.3	37	CCDS13620.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553275	0.65425	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	T;T	0.79554	-1.28;-1.28	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000005	T	0.73481	0.3592	L	0.27053	0.805	0.53005	D	0.999963	D	0.53885	0.963	P	0.49922	0.626	T	0.68941	-0.5276	10	0.15952	T	0.53	.	13.0583	0.58992	0.0:0.0:1.0:0.0	.	97	Q13516	OLIG2_HUMAN	N	97	ENSP00000371794:D97N;ENSP00000331040:D97N	ENSP00000331040:D97N	D	+	1	0	OLIG2	33321329	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.499000	0.60380	1.539000	0.49286	0.462000	0.41574	GAC	.		0.607	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806		A	34399459	G	A	34399459	3	1	54	1	0	0	0	0	1	0	0	0	10900	1174	41	3	291	3	OLIG2	21	34399459	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10		34399459	13730436	94	11565											
NEFH	4744	ucsc.edu	37	chr22	29885594	29885594	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggccaagtccccAgagaaggaagaggccaagtc	13	11	0	3	rs79235463|rs200984527|rs267607533	byFrequency	TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr22:29885594A>T	ENST00000310624.6	+	4	1998	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	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						CCAAGTCCCCAGAGAAGGAAG	0.552																																					p.P655P		.											.	NEFH-90	0			c.A1965T						.						83	92	89					22																	29885594		2203	4300	6503	SO:0001819	synonymous_variant	4744	exon4			GTCCCCAGAGAAG		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.1965A>T	22.37:g.29885594A>T		Somatic	263	1		WXS	Illumina GAIIx	Phase_I	205	37	NM_021076	0	0	7	7	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	CCDS13858.1																																																																																			A|0.500;T|0.500		0.552	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		T	29885594	A	T	29885594	2	4	54	1	0	0	0	0	0	0	0	1	10353	175	7	5		5	NEFH	22	29885594	Silent	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10		29885594	21418972	95	11566											
RABL2B	11158	hgsc.bcm.edu;bcgsc.ca	37	chr22	51208398	51208399	+	Frame_Shift_Ins	INS	-	-	A													ctcccgaagctctgtataccINSaggtgctcaggttcctatag							TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chr22:51208398_51208399insA	ENST00000395598.3	-	6	554_555	c.343_344insT	c.(343-345)tggfs	p.W115fs	RABL2B_ENST00000354869.3_Frame_Shift_Ins_p.W115fs|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395595.3_Frame_Shift_Ins_p.W115fs|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395593.3_Frame_Shift_Ins_p.W115fs|RABL2B_ENST00000435118.1_Frame_Shift_Ins_p.W115fs	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	115					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTGTATACCAGGTGCTCAGG	0.505																																					p.W115fs	GBM(148;358 1894 4987 13698 40400)	.											.	RABL2B-131	0			c.344_345insT						.																																			SO:0001589	frameshift_variant	11158	exon7			GTATACCAGGTGC		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"RAB, member RAS oncogene"	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.344dupT	22.37:g.51208399_51208399dupA	ENSP00000378962:p.Trp115fs	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	116	30	NM_001130920	0	0	0	0	0	Q5TZT8|Q96C33	Frame_Shift_Ins	INS	ENST00000395598.3	37	CCDS14102.1																																																																																			.		0.505	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	NM_001003789		A	51208399	-	A	51208398	7	5	54	1	0	1	1	0	0	0	0	0	13016	595	21	0	391	0	RABL2B	22	51208398	Frame_Shift_Ins	INS	-	TCGA-OR-A5LL-01A-11D-A29I-10	21322804	51208398	96168	96	11567											
AKAP4	8852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	49957052	49957052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcctggagctgcttcTgcaagctatttgtagagcac	12	10	1	1	rs61751432		TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:49957052T>C	ENST00000376056.2	-	5	2435	c.2285A>G	c.(2284-2286)cAg>cGg	p.Q762R	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q762R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.Q388R|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q771R					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAGCTGCTTCTGCAAGCTATT	0.473																																					p.Q771R		.											.	AKAP4-540	0			c.A2312G						.						77	56	63					X																	49957052		2203	4300	6503	SO:0001583	missense	8852	exon5			TGCTTCTGCAAGC	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2285A>G	X.37:g.49957052T>C	ENSP00000365224:p.Gln762Arg	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	102	14	NM_003886	0	0	0	0	0		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339701	0.41398	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.94	3.74	0.42951	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.50627	D	0.000107	T	0.27933	0.0688	M	0.77103	2.36	0.26431	N	0.97594	P;D	0.63046	0.872;0.992	P;D	0.64410	0.562;0.925	T	0.07328	-1.0778	9	.	.	.	-5.3588	8.1023	0.30865	0.0:0.0:0.2018:0.7982	.	771;388	Q5JQC9;A6ND82	AKAP4_HUMAN;.	R	762;388;771;762	ENSP00000365224:Q762R;ENSP00000365226:Q388R;ENSP00000351327:Q771R;ENSP00000365232:Q762R	.	Q	-	2	0	AKAP4	49843792	1.000000	0.71417	0.991000	0.47740	0.158000	0.22134	4.411000	0.59781	0.552000	0.29026	0.430000	0.28490	CAG	.		0.473	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		C	49957052	T	C	49957052	3	2	54	1	0	0	0	0	1	0	0	0	453	1580	55	4	260	4	AKAP4	23	49957052	Missense_Mutation	SNP	T	TCGA-OR-A5LL-01A-11D-A29I-10		49957052	105313508	97	11568											
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	50377344	50377344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccggttttggatcgagcGgccccgggtccctccacttc	12	17	0	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:50377344G>A	ENST00000289292.7	-	4	2012	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R577C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R461C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	577					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)					TGGATCGAGCGGCCCCGGGTC	0.582																																					p.R577C		.											.	SHROOM4-131	0			c.C1729T						.						33	32	32					X																	50377344		2203	4300	6503	SO:0001583	missense	57477	exon4			TCGAGCGGCCCCG	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.1729C>T	X.37:g.50377344G>A	ENSP00000289292:p.Arg577Cys	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	46	10	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163267	0.38217	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.18657	2.65;2.65;2.2	5.53	5.53	0.82687	.	0.071575	0.56097	D	0.000032	T	0.46444	0.1393	M	0.65975	2.015	0.54753	D	0.999983	D	0.89917	1.0	D	0.76071	0.987	T	0.40627	-0.9553	10	0.72032	D	0.01	.	17.0818	0.86601	0.0:0.0:1.0:0.0	.	577	Q9ULL8	SHRM4_HUMAN	C	577;577;461	ENSP00000289292:R577C;ENSP00000365188:R577C;ENSP00000421450:R461C	ENSP00000289292:R577C	R	-	1	0	SHROOM4	50394084	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.289000	0.59013	2.562000	0.86427	0.600000	0.82982	CGC	.		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		A	50377344	G	A	50377344	3	1	54	1	0	0	0	0	1	0	0	0	14341	1116	39	1	2776	1	SHROOM4	23	50377344	Missense_Mutation	SNP	G	TCGA-OR-A5LL-01A-11D-A29I-10	420292	50377344	104893216	98	11569											
ITM2A	9452	ucsc.edu;bcgsc.ca	37	chrX	78616969	78616969	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cataagtttgaggcagatatCtgccactctaaaaatcaaaa	6	8	3	2			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:78616969C>A	ENST00000373298.2	-	5	703	c.560G>T	c.(559-561)aGa>aTa	p.R187I	ITM2A_ENST00000434584.2_Missense_Mutation_p.R143I|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	187	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCAGATATCTGCCACTCTA	0.343																																					p.R187I		.											.	ITM2A-131	0			c.G560T						.						53	47	49					X																	78616969		2201	4297	6498	SO:0001583	missense	9452	exon5			AGATATCTGCCAC	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.560G>T	X.37:g.78616969C>A	ENSP00000362395:p.Arg187Ile	Somatic	285	4		WXS	Illumina GAIIx	Phase_I	317	59	NM_004867	0	0	0	0	0	B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449439	0.12223	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.79141	-1.24;-1.24	4.5	-1.78	0.07957	BRICHOS (2);	0.275526	0.35970	N	0.002872	T	0.52125	0.1715	N	0.08118	0	0.28798	N	0.89896	B;B	0.22146	0.0;0.065	B;B	0.27500	0.001;0.08	T	0.41875	-0.9484	10	0.30078	T	0.28	-17.4096	6.552	0.22440	0.0:0.2226:0.5219:0.2554	.	143;187	B4E062;O43736	.;ITM2A_HUMAN	I	187;143	ENSP00000362395:R187I;ENSP00000415533:R143I	ENSP00000362395:R187I	R	-	2	0	ITM2A	78503625	1.000000	0.71417	0.101000	0.21167	0.022000	0.10575	2.459000	0.45023	-0.178000	0.10672	-0.503000	0.04515	AGA	.		0.343	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		A	78616969	C	A	78616969	3	1	54	1	0	0	0	0	1	0	0	0	7939	913	32	3	239	3	ITM2A	23	78616969	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	28239625	78616969	76653591	99	11570											
COL4A6	1288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107457358	107457358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacgggtggtccgagaagcCcaggatagccatcagggcct	14	11	1	1			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:107457358C>A	ENST00000372216.4	-	6	528	c.428G>T	c.(427-429)gGg>gTg	p.G143V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G142V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G142V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G142V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G141V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	143	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCGAGAAGCCCAGGATAGCC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												p.G143V	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G428T						.						91	82	85					X																	107457358		2203	4300	6503	SO:0001583	missense	1288	exon6	Familial Cancer Database		AGAAGCCCAGGAT	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.428G>T	X.37:g.107457358C>A	ENSP00000361290:p.Gly143Val	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	64	24	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042466	0.35989	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-5.77;-5.77;-6.29;-5.77;-5.77	4.92	4.92	0.64577	.	0.000000	0.41194	D	0.000927	D	0.99813	0.9918	H	0.98980	4.39	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	0.96716	0.9529	10	0.87932	D	0	.	14.6254	0.68616	0.0:1.0:0.0:0.0	.	142;142;143;142	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	143;142;141;142;142;142	ENSP00000361290:G143V;ENSP00000334733:G142V;ENSP00000378340:G141V;ENSP00000443707:G142V;ENSP00000445236:G142V	ENSP00000334733:G142V	G	-	2	0	COL4A6	107344014	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.988000	0.63863	2.360000	0.80028	0.506000	0.49869	GGG	.		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107457358	C	A	107457358	3	1	54	1	0	0	0	0	1	0	0	0	3702	623	22	3	4807	3	COL4A6	23	107457358	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	28840389	107457358	47813202	100	11571											
GPR50	9248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	150349287	150349287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caagtctgtctttagccactCcaaggctgcctctggtcacc	8	15	4	0			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:150349287C>G	ENST00000218316.3	+	2	1301	c.1232C>G	c.(1231-1233)tCc>tGc	p.S411C	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	411	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAGCCACTCCAAGGCTGCC	0.597																																					p.S411C		.											.	GPR50-176	0			c.C1232G						.						125	139	134					X																	150349287		2078	4192	6270	SO:0001583	missense	9248	exon2			GCCACTCCAAGGC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1232C>G	X.37:g.150349287C>G	ENSP00000218316:p.Ser411Cys	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	92	16	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533172	0.13188	.	.	ENSG00000102195	ENST00000218316	T	0.73363	-0.74	3.67	1.81	0.25067	.	0.501719	0.15091	N	0.281047	T	0.55893	0.1949	N	0.14661	0.345	0.09310	N	1	D	0.54047	0.964	B	0.43783	0.431	T	0.50931	-0.8769	10	0.87932	D	0	-4.9115	5.61	0.17400	0.0:0.4962:0.3824:0.1215	.	411	Q13585	MTR1L_HUMAN	C	411	ENSP00000218316:S411C	ENSP00000218316:S411C	S	+	2	0	GPR50	150099945	0.000000	0.05858	0.006000	0.13384	0.127000	0.20565	-0.060000	0.11712	0.183000	0.20059	-0.516000	0.04426	TCC	.		0.597	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		G	150349287	C	G	150349287	3	3	54	1	0	0	0	0	1	0	0	0	6723	855	30	3	1238	3	GPR50	23	150349287	Missense_Mutation	SNP	C	TCGA-OR-A5LL-01A-11D-A29I-10	42891929	150349287	4921273	101	11572											
SRPK3	26576	broad.mit.edu	37	chrX	153047594	153047594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtccgggacagcgaccccAgtgaccccaaaagagagacc	12	14	0	3			TCGA-OR-A5LL-01A-11D-A29I-10	TCGA-OR-A5LL-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	9bfd4b2e-0577-4c94-8d6c-dafa9104b502	2d4f1606-9261-4ba8-96a9-ee307989af11	g.chrX:153047594A>C	ENST00000370101.3	+	5	452	c.406A>C	c.(406-408)Agt>Cgt	p.S136R	SRPK3_ENST00000489426.1_Missense_Mutation_p.S203R|SRPK3_ENST00000370108.3_Missense_Mutation_p.S136R|SRPK3_ENST00000393786.3_Missense_Mutation_p.S136R|SRPK3_ENST00000370100.1_Missense_Mutation_p.S94R|SRPK3_ENST00000370104.1_Missense_Mutation_p.S136R	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGACCCCAGTGACCCCAA	0.557																																					p.S136R	Esophageal Squamous(167;766 3400 32156)	.											.	SRPK3-540	0			c.A406C						.						106	100	102					X																	153047594		2201	4300	6501	SO:0001583	missense	26576	exon5			GACCCCAGTGACC	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.406A>C	X.37:g.153047594A>C	ENSP00000359119:p.Ser136Arg	Somatic	220	1		WXS	Illumina GAIIx	Phase_I	179	5	NM_014370	0	0	7	7	0	Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398719	0.62177	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.27419	0.0673	L	0.38692	1.165	0.50171	D	0.999859	B;D;B;B;B	0.58620	0.004;0.983;0.054;0.28;0.026	B;P;B;B;B	0.44597	0.013;0.454;0.029;0.068;0.102	T	0.02991	-1.1085	10	0.20519	T	0.43	-18.209	14.0717	0.64863	1.0:0.0:0.0:0.0	.	94;136;136;136;203	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	R	203;136;136;136;136;94	ENSP00000420058:S203R;ENSP00000377376:S136R;ENSP00000359122:S136R;ENSP00000359126:S136R;ENSP00000359119:S136R;ENSP00000359118:S94R	ENSP00000359118:S94R	S	+	1	0	SRPK3	152700788	0.998000	0.40836	1.000000	0.80357	0.683000	0.39861	3.883000	0.56168	1.969000	0.57287	0.430000	0.28490	AGT	.		0.557	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		C	153047594	A	C	153047594	3	2	54	1	0	0	0	0	1	0	0	0	15208	188	7	5	424	5	SRPK3	23	153047594	Missense_Mutation	SNP	A	TCGA-OR-A5LL-01A-11D-A29I-10	2698307	153047594	2222966	102	11573											
AGMAT	79814	hgsc.bcm.edu	37	chr1	15911349	15911349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttccggggcgcGtcggaagcctggcggctctg	21	11	1	0	rs3737705	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2	3	3		114	-4.1	0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024758	0	0	0	3	3	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15911349	G	A	15911349	2	1	55	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15911349	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		15911349	233339272	1	11574											
KIAA0754	643314	broad.mit.edu;mdanderson.org	37	chr1	39879083	39879083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcagtgcccacccCagaggagcccacctccccag	10	19	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:39879083C>A	ENST00000530275.1	+	1	2933	c.2738C>A	c.(2737-2739)cCa>cAa	p.P913Q	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	913	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)			GTGCCCACCCCAGAGGAGCCC	0.721																																					p.P1049Q		.											.	.	0			c.C3146A						.						2	2	2					1																	39879083		1049	2640	3689	SO:0001583	missense	643314	exon1			CCACCCCAGAGGA			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.2738C>A	1.37:g.39879083C>A	ENSP00000431179:p.Pro913Gln	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	25	11	NM_015038	0	0	0	0	0	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	14.70	2.613041	0.46631	.	.	ENSG00000255103	ENST00000530275	T	0.23348	1.91	4.42	0.00655	0.14067	.	.	.	.	.	T	0.20700	0.0498	L	0.34521	1.04	0.09310	N	1	B	0.32467	0.372	B	0.39419	0.299	T	0.33163	-0.9879	9	0.66056	D	0.02	.	5.3766	0.16168	0.0:0.5472:0.157:0.2957	.	913	O94854	K0754_HUMAN	Q	913	ENSP00000431179:P913Q	ENSP00000431179:P913Q	P	+	2	0	RP4-562N20.1	39651670	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.548000	0.06048	0.128000	0.18479	0.297000	0.19635	CCA	.		0.721	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		A	39879083	C	A	39879083	3	1	55	1	0	0	0	0	1	0	0	0	8219	594	21	3	3148	3	KIAA0754	1	39879083	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	23967734	39879083	209371538	2	11575											
IGSF3	3321	broad.mit.edu	37	chr1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcagccttctcgAtggcagttcgggttcggaag	14	10	2	0	rs138851517	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031				p.I639T		.											.	IGSF3-92	0			c.T1916C						.																																			SO:0001583	missense	3321	exon8			TTCTCGATGGCAG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	79	9	NM_001542	0	0	11	18	7	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC	A|0.500;G|0.500		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117142736	A	G	117142736	3	3	55	1	0	0	0	0	1	0	0	0	7628	333	12	4	1748	4	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	77263653	117142736	132107885	3	11576											
TTF2	8458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	117618146	117618146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcctcaggggcatttcCaagagcggccggagacccac	13	15	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:117618146C>G	ENST00000369466.4	+	5	984	c.940C>G	c.(940-942)Caa>Gaa	p.Q314E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	314					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGGGCATTTCCAAGAGCGGCC	0.607																																					p.Q314E		.											.	TTF2-91	0			c.C940G						.						40	42	42					1																	117618146		2203	4300	6503	SO:0001583	missense	8458	exon5			CATTTCCAAGAGC	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.940C>G	1.37:g.117618146C>G	ENSP00000358478:p.Gln314Glu	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	101	48	NM_003594	0	0	0	0	0	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	4.762	0.141696	0.09083	.	.	ENSG00000116830	ENST00000369466	D	0.86366	-2.11	4.95	0.831	0.18860	.	0.223491	0.23074	N	0.052238	T	0.48259	0.1490	L	0.27053	0.805	0.09310	N	1	B;B	0.33103	0.063;0.397	B;B	0.28991	0.026;0.097	T	0.51679	-0.8675	10	0.08837	T	0.75	0.5593	1.8643	0.03195	0.165:0.4944:0.1599:0.1807	.	314;314	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	E	314	ENSP00000358478:Q314E	ENSP00000358478:Q314E	Q	+	1	0	TTF2	117419669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.593000	0.23999	-0.035000	0.13691	-0.305000	0.09177	CAA	.		0.607	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			G	117618146	C	G	117618146	3	3	55	1	0	0	0	0	1	0	0	0	16768	595	21	3	958	3	TTF2	1	117618146	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	475410	117618146	131632475	4	11577											
NBPF7	343505	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	120378701	120378701	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcagagcaaactttctgttCaactagtgccaagaaagtgc	9	9	2	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:120378701C>G								REG4 (24418 upstream) : ADAM30 (57454 downstream)																							ACTTTCTGTTCAACTAGTGCC	0.493																																					p.E349Q		.											.	NBPF7-24	0			c.G1045C						.						107	107	107					1																	120378701		1966	4169	6135	SO:0001628	intergenic_variant	343505	exon7			TCTGTTCAACTAG																													1.37:g.120378701C>G		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	129	56	NM_001047980	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.493									G	120378701	C	G	120378701	1	3	55	0	1	0	0	0	0	0	0	0	10237	835	29	3		3	NBPF7	1	120378701	IGR	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	2760555	120378701	128871920	5	11578											
TXNIP	10628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	145441200	145441202	+	In_Frame_Del	DEL	CAA	CAA	-													taggtggatccctgcatcctCaacaacaatgtgcagtgagc							TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	CAA	CAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:145441200_145441202delCAA	ENST00000369317.4	+	8	1492_1494	c.1158_1160delCAA	c.(1156-1161)ctcaac>ctc	p.N389del	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	389					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATGTG	0.394																																					p.386_387del		.											.	TXNIP-92	1	Deletion - In frame(1)	breast(1)	c.1158_1160del						.																																			SO:0001651	inframe_deletion	10628	exon8			CATCCTCAACAAC	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1158_1160delCAA	1.37:g.145441206_145441208delCAA	ENSP00000358323:p.Asn389del	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	108	25	NM_006472	0	0	0	0	0	B4E3D3|Q16226|Q6PML0|Q9BXG9	In_Frame_Del	DEL	ENST00000369317.4	37	CCDS913.1																																																																																			.		0.394	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		-	145441202	CAA	-	145441200	7	5	55	1	0	1	0	1	0	0	0	0	16852	813	29	0	1188	0	TXNIP	1	145441200	In_Frame_Del	DEL	CAA	TCGA-OR-A5LO-01A-11D-A29I-10	25062499	145441200	103809421	6	11579											
DENND4B	9909	broad.mit.edu	37	chr1	153906135	153906135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagccctcgtcggggggTgcctgcctcatcctgtcgcc	12	18	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:153906135T>G	ENST00000361217.4	-	20	3572	c.3154A>C	c.(3154-3156)Acc>Ccc	p.T1052P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1052					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTCGGGGGGTGCCTGCCTCA	0.697																																					p.T1052P		.											.	DENND4B-69	0			c.A3154C						.						4	6	6					1																	153906135		1855	3985	5840	SO:0001583	missense	9909	exon20			GGGGGGTGCCTGC	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.3154A>C	1.37:g.153906135T>G	ENSP00000354597:p.Thr1052Pro	Somatic	20	2		WXS	Illumina GAIIx	Phase_I	38	10	NM_014856	0	0	13	14	1	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469936	0.43839	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08282	3.19;3.11	5.09	5.09	0.68999	.	0.331958	0.31949	N	0.006804	T	0.02267	0.0070	L	0.27053	0.805	0.32932	D	0.517261	B	0.18310	0.027	B	0.12837	0.008	T	0.39057	-0.9632	10	0.35671	T	0.21	-23.9096	8.5979	0.33727	0.0:0.0872:0.0:0.9128	.	1052	O75064	DEN4B_HUMAN	P	1052;1063	ENSP00000354597:T1052P;ENSP00000357635:T1063P	ENSP00000354597:T1052P	T	-	1	0	DENND4B	152172759	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.953000	0.49105	2.131000	0.65755	0.379000	0.24179	ACC	.		0.697	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		G	153906135	T	G	153906135	3	3	55	1	0	0	0	0	1	0	0	0	4448	1696	59	5	1372	5	DENND4B	1	153906135	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	8464935	153906135	95344486	7	11580											
NUP210L	91181	broad.mit.edu	37	chr1	154076608	154076608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgatacattgcaatggGtatttctataatctggccaa	8	6	2	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:154076608G>T	ENST00000368559.3	-	13	1770	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	MIR5698_ENST00000577643.1_RNA|NUP210L_ENST00000271854.3_Missense_Mutation_p.P567T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	567					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)			ATTGCAATGGGTATTTCTATA	0.383																																					p.P567T		.											.	NUP210L-77	0			c.C1699A						.						182	164	169					1																	154076608		1870	4114	5984	SO:0001583	missense	91181	exon13			CAATGGGTATTTC	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.1699C>A	1.37:g.154076608G>T	ENSP00000357547:p.Pro567Thr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_001159484	0	0	0	0	0	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560769	0.45590	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05199	3.48;3.48	4.83	3.92	0.45320	.	0.000000	0.64402	D	0.000013	T	0.10337	0.0253	M	0.65975	2.015	0.34633	D	0.719807	D;P	0.76494	0.999;0.747	D;B	0.64144	0.922;0.399	T	0.03555	-1.1025	10	0.42905	T	0.14	-10.8982	11.1265	0.48322	0.0866:0.0:0.9134:0.0	.	567;567	E7EP56;Q5VU65	.;P210L_HUMAN	T	567	ENSP00000357547:P567T;ENSP00000271854:P567T	ENSP00000271854:P567T	P	-	1	0	NUP210L	152343232	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.249000	0.65427	1.267000	0.44247	-0.142000	0.14014	CCC	.		0.383	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154076608	G	T	154076608	3	4	55	1	0	0	0	0	1	0	0	0	10800	1261	44	3	4079	3	NUP210L	1	154076608	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	170473	154076608	95174013	8	11581											
SCAMP3	10067	ucsc.edu;bcgsc.ca	37	chr1	155230131	155230131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattacttactagctgtgccCcccagggcagcatgctgcag	10	13	0	0	rs1142287	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:155230131C>T	ENST00000302631.3	-	4	485	c.378G>A	c.(376-378)ggG>ggA	p.G126G	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Silent_p.G100G|CLK2_ENST00000497188.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	126					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGCTGTGCCCCCCAGGGCAG	0.592													C|||	2263	0.451877	0.5416	0.3199	5008	,	,		20022	0.6944		0.2753	False		,,,				2504	0.3558				p.G126G		.											.	SCAMP3-93	0			c.G378A						.	C	,	2359,2047		635,1089,479	86	84	85	http://www.ncbi.nlm.nih.gov/pubmed?term	378,300	-1.6	0.4	1	dbSNP_86	85	2253,6347		306,1641,2353	yes	coding-synonymous,coding-synonymous	SCAMP3	NM_005698.3,NM_052837.2	,	941,2730,2832	TT,TC,CC	http://www.ncbi.nlm.nih.gov/pubmed?term	26.1977,46.4594,35.4606	,	126/348,100/322	155230131	4612,8394	2203	4300	6503	SO:0001819	synonymous_variant	10067	exon4			TGTGCCCCCCAGG	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.378G>A	1.37:g.155230131C>T		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	26	4	NM_005698	0	0	0	0	0	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Silent	SNP	ENST00000302631.3	37	CCDS1105.1																																																																																			C|0.584;T|0.416		0.592	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		T	155230131	C	T	155230131	2	4	55	1	0	0	0	0	0	0	0	1	13917	610	22	3		3	SCAMP3	1	155230131	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	1153523	155230131	94020490	9	11582											
ATP1B1	481	bcgsc.ca	37	chr1	169096477	169096477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagatgtgcccagtgaacCgaaagaacgaggagacttta	11	7	0	4	rs141812161	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:169096477C>T	ENST00000367816.1	+	5	927	c.398C>T	c.(397-399)cCg>cTg	p.P133L	ATP1B1_ENST00000367815.4_Missense_Mutation_p.P133L|ATP1B1_ENST00000367813.3_Missense_Mutation_p.P125L|ATP1B1_ENST00000499679.3_Missense_Mutation_p.P77L			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	133					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CCCAGTGAACCGAAAGAACGA	0.383																																					p.P133L		.											.	ATP1B1-540	0			c.C398T						.	C	LEU/PRO	0,4406		0,0,2203	88	85	86		398	-0.7	0.1	1	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP1B1	NM_001677.3	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	133/304	169096477	2,13004	2203	4300	6503	SO:0001583	missense	481	exon4			GTGAACCGAAAGA	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.398C>T	1.37:g.169096477C>T	ENSP00000356790:p.Pro133Leu	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	56	6	NM_001677	0	0	60	60	0	Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759301	0.03019	0.0	2.33E-4	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	6.02	-0.683	0.11335	.	0.669254	0.16844	N	0.197210	T	0.03651	0.0104	N	0.19112	0.55	0.27608	N	0.948748	B	0.02656	0.0	B	0.04013	0.001	T	0.43956	-0.9359	9	0.12103	T	0.63	-27.1059	6.2604	0.20897	0.615:0.2166:0.0:0.1684	.	133	P05026	AT1B1_HUMAN	L	133;133;77;125	ENSP00000356790:P133L;ENSP00000356789:P133L;ENSP00000423450:P77L;ENSP00000356787:P125L	ENSP00000356787:P125L	P	+	2	0	ATP1B1	167363101	0.786000	0.28738	0.050000	0.19076	0.136000	0.21042	1.042000	0.30303	-0.019000	0.14055	0.655000	0.94253	CCG	C|1.000;T|0.000		0.383	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			T	169096477	C	T	169096477	3	4	55	1	0	0	0	0	1	0	0	0	1133	652	23	1	412	1	ATP1B1	1	169096477	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	13866346	169096477	80154144	10	11583											
NME7	29922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	169292366	169292366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttacttttctttcctActgcccagctggcgagctgt	7	12	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:169292366A>G	ENST00000367811.3	-	3	523	c.267T>C	c.(265-267)agT>agC	p.S89S	NME7_ENST00000472647.1_Silent_p.S53S|NME7_ENST00000469474.1_5'UTR|RP4-800F24.1_ENST00000432081.1_RNA	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	89	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TTTCTTTCCTACTGCCCAGCT	0.353																																					p.S89S		.											.	NME7-514	0			c.T267C						.						84	84	84					1																	169292366		2203	4300	6503	SO:0001819	synonymous_variant	29922	exon3			TTTCCTACTGCCC	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.267T>C	1.37:g.169292366A>G		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	32	13	NM_013330	0	0	1	1	0	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	ENST00000367811.3	37	CCDS1277.1																																																																																			.		0.353	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		G	169292366	A	G	169292366	2	3	55	1	0	0	0	0	0	0	0	1	10535	388	14	4		4	NME7	1	169292366	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	195889	169292366	79958255	11	11584											
PAPPA2	60676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	176679229	176679229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcccaaaggatacttggatCaatgggctacccgggcttac	10	12	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:176679229C>G	ENST00000367662.3	+	11	4732	c.3568C>G	c.(3568-3570)Caa>Gaa	p.Q1190E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1190					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						ATACTTGGATCAATGGGCTAC	0.453																																					p.Q1190E		.											.	PAPPA2-548	0			c.C3568G						.						126	122	124					1																	176679229		1896	4126	6022	SO:0001583	missense	60676	exon11			TTGGATCAATGGG	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.3568C>G	1.37:g.176679229C>G	ENSP00000356634:p.Gln1190Glu	Somatic	193	1		WXS	Illumina GAIIx	Phase_I	128	52	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529859	0.64860	.	.	ENSG00000116183	ENST00000367662	T	0.56941	0.43	5.76	5.76	0.90799	.	0.113881	0.64402	D	0.000011	T	0.76990	0.4065	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.79899	-0.1608	10	0.87932	D	0	-6.6759	19.571	0.95419	0.0:1.0:0.0:0.0	.	1190	Q9BXP8	PAPP2_HUMAN	E	1190	ENSP00000356634:Q1190E	ENSP00000356634:Q1190E	Q	+	1	0	PAPPA2	174945852	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.040000	0.76551	2.713000	0.92767	0.655000	0.94253	CAA	.		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176679229	C	G	176679229	3	3	55	1	0	0	0	0	1	0	0	0	11472	827	29	3	3659	3	PAPPA2	1	176679229	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	7386863	176679229	72571392	12	11585											
C1orf106	55765	hgsc.bcm.edu	37	chr1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggcgagtgggagctgCgccgcgcagccccgggccct	17	17	0	0	rs296520	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5	7	6		1357,1612	0.8	0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_018265	0	0	0	1	1	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200880978	C	T	200880978	3	4	55	1	0	0	0	0	1	0	0	0	1987	768	27	1	1646	1	C1orf106	1	200880978	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	24201749	200880978	48369643	13	11586											
ELK4	2005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205592890	205592890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcccccagagacgagccaCctcttctgcctgcaaaagct	7	16	2	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:205592890C>A	ENST00000357992.4	-	2	460	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.V41L	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	41					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|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 cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGACGAGCCACCTCTTCTGCC	0.473			T	SLC45A3	prostate																																p.V41L		.		Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	.	ELK4-658	0			c.G121T						.						160	158	159					1																	205592890		2203	4300	6503	SO:0001583	missense	2005	exon2			GAGCCACCTCTTC	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.121G>T	1.37:g.205592890C>A	ENSP00000350681:p.Val41Leu	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	114	50	NM_021795	0	0	1	4	3	P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519149	0.96416	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.60672	0.17;0.17	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.66439	2.03	0.80722	D	1	P;D	0.76494	0.832;0.999	P;D	0.78314	0.699;0.991	T	0.76881	-0.2795	10	0.87932	D	0	.	18.4943	0.90858	0.0:1.0:0.0:0.0	.	41;41	P28324-2;P28324	.;ELK4_HUMAN	L	131;41;41	ENSP00000350681:V41L;ENSP00000289703:V41L	ENSP00000289703:V41L	V	-	1	0	ELK4	203859513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.778000	0.95560	0.655000	0.94253	GTG	.		0.473	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		A	205592890	C	A	205592890	3	1	55	1	0	0	0	0	1	0	0	0	5077	507	18	3	1328	3	ELK4	1	205592890	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	4711912	205592890	43657731	14	11587											
PGBD2	267002	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	249211953	249211953	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaaaagaccccaaagaactGaaaaaaatgaagaggggttc	9	7	0	5			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr1:249211953G>C	ENST00000329291.5	+	3	1317	c.1170G>C	c.(1168-1170)ctG>ctC	p.L390L	PGBD2_ENST00000539153.1_Silent_p.L387L|PGBD2_ENST00000355360.4_Silent_p.L139L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	390										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)			CCAAAGAACTGAAAAAAATGA	0.463																																					p.L390L		.											.	PGBD2-91	0			c.G1170C						.						59	64	62					1																	249211953		2203	4300	6503	SO:0001819	synonymous_variant	267002	exon3			AGAACTGAAAAAA	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.1170G>C	1.37:g.249211953G>C		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	93	36	NM_170725	0	0	0	2	2	B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	CCDS31128.1																																																																																			.		0.463	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249211953	G	C	249211953	2	2	55	1	0	0	0	0	0	0	0	1	11820	1277	45	3		3	PGBD2	1	249211953	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	43619063	249211953	38668	15	11588											
RETSAT	54884	broad.mit.edu	37	chr2	85577299	85577299	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagcccacacctgtcgagGagctgaaccacgggcaatgg	13	13	0	1	rs138358940		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:85577299G>A	ENST00000295802.4	-	4	775	c.663C>T	c.(661-663)ctC>ctT	p.L221L	RETSAT_ENST00000263854.6_Silent_p.L221L|RETSAT_ENST00000457495.2_Silent_p.L160L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	221					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ACCTGTCGAGGAGCTGAACCA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		16925	0		0	False		,,,				2504	0				p.L221L		.											.	RETSAT-70	0			c.C663T						.	G		4,4402	8.1+/-20.4	0,4,2199	91	88	89		663	-1.8	0.1	2	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	RETSAT	NM_017750.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		221/611	85577299	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54884	exon4			GTCGAGGAGCTGA	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.663C>T	2.37:g.85577299G>A		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	123	3	NM_017750	0	0	51	51	0	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	1.577	-0.532504	0.04112	9.08E-4	0.0	ENSG00000042445	ENST00000409984	.	.	.	5.82	-1.81	0.07882	.	.	.	.	.	T	0.52008	0.1708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45862	-0.9232	4	.	.	.	-4.6362	7.8367	0.29374	0.2497:0.3451:0.4052:0.0	.	.	.	.	F	160	.	.	S	-	2	0	RETSAT	85430810	0.824000	0.29247	0.126000	0.21872	0.155000	0.21991	-0.203000	0.09438	-0.231000	0.09825	-0.136000	0.14681	TCC	G|1.000;A|0.000		0.602	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85577299	G	A	85577299	2	1	55	1	0	0	0	0	0	0	0	1	13283	1161	41	3		3	RETSAT	2	85577299	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		85577299	157622074	16	11589											
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682235	106682235	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgccatggctgcctccccCgcgcggcctgctgtcctggc	13	20	0	0	rs4266035	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:106682235C>G	ENST00000238044.3	+	1	124	c.15C>G	c.(13-15)ccC>ccG	p.P5P	C2orf40_ENST00000409944.1_Intron|C2orf40_ENST00000489174.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	5					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTGCCTCCCCCGCGCGGCCTG	0.751													C|||	1156	0.230831	0.18	0.1239	5008	,	,		11837	0.2391		0.2187	False		,,,				2504	0.3793				p.P5P		.											.	C2orf40-90	0			c.C15G						.						2	3	3					2																	106682235		1650	3370	5020	SO:0001819	synonymous_variant	84417	exon1			CTCCCCCGCGCGG	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.15C>G	2.37:g.106682235C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_032411	0	0	1	1	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			C|0.795;G|0.205		0.751	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		G	106682235	C	G	106682235	2	3	55	1	0	0	0	0	0	0	0	1	2172	639	23	2		2	C2orf40	2	106682235	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	21104936	106682235	136517138	17	11590											
ANKRD57	65124	hgsc.bcm.edu	37	chr2	110372192	110372192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttcaggggcgccctAggcggcgaaccggagcagcg	16	14	1	0	rs6594048		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1	1	1	5008	,	,		6158	1		1	False		,,,				2504	1				p.L42L		.											.	.	0			c.A126G						.						1	2	2					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110372192	A	G	110372192	2	3	55	1	0	0	0	0	0	0	0	1	683	407	15	4		4	ANKRD57	2	110372192	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	3689957	110372192	132827181	18	11591											
PTPN4	5775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	120640081	120640081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcctttcattattagctGaacttggagactacgatcag	7	8	2	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:120640081G>A	ENST00000263708.2	+	8	1240	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	157	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)	ATTATTAGCTGAACTTGGAGA	0.299																																					p.E157K		.											.	PTPN4-228	0			c.G469A						.						23	23	23					2																	120640081		2181	4277	6458	SO:0001583	missense	5775	exon8			TTAGCTGAACTTG		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.469G>A	2.37:g.120640081G>A	ENSP00000263708:p.Glu157Lys	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	116	60	NM_002830	0	0	0	0	0	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337778	0.95758	.	.	ENSG00000088179	ENST00000263708	T	0.74842	-0.88	5.73	5.73	0.89815	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	0.85652	0.5746	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86114	0.1564	10	0.87932	D	0	.	19.8954	0.96955	0.0:0.0:1.0:0.0	.	157	P29074	PTN4_HUMAN	K	157	ENSP00000263708:E157K	ENSP00000263708:E157K	E	+	1	0	PTPN4	120356551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.050000	0.93843	2.708000	0.92522	0.591000	0.81541	GAA	.		0.299	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120640081	G	A	120640081	3	1	55	1	0	0	0	0	1	0	0	0	12835	1291	45	3	495	3	PTPN4	2	120640081	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	10267889	120640081	122559292	19	11592											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179581920	179581920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcctactttgagaactGtcagagtggcagtattttct	9	8	2	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:179581920G>A	ENST00000591111.1	-	86	24814	c.24590C>T	c.(24589-24591)aCa>aTa	p.T8197I	TTN_ENST00000589042.1_Missense_Mutation_p.T8514I|TTN_ENST00000342992.6_Missense_Mutation_p.T7270I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12381	Ig-like 64.				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)			TTTGAGAACTGTCAGAGTGGC	0.493																																					p.T8514I		.											.	TTN-636	0			c.C25541T						.						67	68	68					2																	179581920		1920	4127	6047	SO:0001583	missense	7273	exon88			AGAACTGTCAGAG	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.24590C>T	2.37:g.179581920G>A	ENSP00000465570:p.Thr8197Ile	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	67	34	NM_001267550	0	0	0	0	0	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	8.755	0.922143	0.17982	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.52	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59878	0.2226	L	0.42487	1.325	0.80722	D	1	P	0.41265	0.744	B	0.43123	0.409	T	0.62996	-0.6735	9	0.87932	D	0	.	7.4149	0.27038	0.1426:0.0:0.7217:0.1357	.	8197	Q8WZ42	TITIN_HUMAN	I	7270	ENSP00000343764:T7270I	ENSP00000343764:T7270I	T	-	2	0	TTN	179290165	0.990000	0.36364	0.962000	0.40283	0.981000	0.71138	1.995000	0.40767	1.452000	0.47756	0.655000	0.94253	ACA	.		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179581920	G	A	179581920	3	1	55	1	0	0	0	0	1	0	0	0	16784	1377	48	3	79088	3	TTN	2	179581920	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	58941839	179581920	63617453	20	11593											
RAPH1	65059	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	204305290	204305290	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgagattccatggcaggggGagttggagggggtggaaact	19	5	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:204305290G>C	ENST00000319170.5	-	14	2922	c.2623C>G	c.(2623-2625)Ccc>Gcc	p.P875A	RAPH1_ENST00000374493.3_Missense_Mutation_p.P927A|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	875					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGGCAGGGGGAGTTGGAGGG	0.582																																					p.P875A		.											.	RAPH1-1151	0			c.C2623G						.						74	89	84					2																	204305290		2203	4300	6503	SO:0001583	missense	65059	exon14			CAGGGGGAGTTGG	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2623C>G	2.37:g.204305290G>C	ENSP00000316543:p.Pro875Ala	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	33	22	NM_213589	0	0	0	2	2	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	7.155	0.584608	0.13749	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.47528	0.84;0.86	2.63	2.63	0.31362	.	.	.	.	.	T	0.25901	0.0631	N	0.19112	0.55	0.54753	D	0.999982	P	0.34977	0.478	B	0.28553	0.091	T	0.05209	-1.0899	9	0.25751	T	0.34	.	7.9186	0.29833	0.1189:0.0:0.8811:0.0	.	875	Q70E73	RAPH1_HUMAN	A	875;927	ENSP00000316543:P875A;ENSP00000363617:P927A	ENSP00000316543:P875A	P	-	1	0	RAPH1	204013535	0.923000	0.31300	0.015000	0.15790	0.187000	0.23431	1.762000	0.38451	1.476000	0.48215	0.411000	0.27672	CCC	.		0.582	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		C	204305290	G	C	204305290	3	2	55	1	0	0	0	0	1	0	0	0	13095	1174	41	3	1133	3	RAPH1	2	204305290	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	24723370	204305290	38894083	21	11594											
RHBDD1	84236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	227729481	227729481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatcttccatgttgggatCaacaatattccacctgtcac	5	12	3	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:227729481C>T	ENST00000341329.3	+	2	314	c.72C>T	c.(70-72)atC>atT	p.I24I	RHBDD1_ENST00000392062.2_Silent_p.I24I	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	24					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		ATGTTGGGATCAACAATATTC	0.458																																					p.I24I		.											.	RHBDD1-91	0			c.C72T						.						179	165	170					2																	227729481		2203	4300	6503	SO:0001819	synonymous_variant	84236	exon4			TGGGATCAACAAT	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.72C>T	2.37:g.227729481C>T		Somatic	163	0		WXS	Illumina GAIIx	Phase_I	102	42	NM_001167608	0	0	4	5	1	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	CCDS2464.1																																																																																			.		0.458	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			T	227729481	C	T	227729481	2	4	55	1	0	0	0	0	0	0	0	1	13361	816	29	3		3	RHBDD1	2	227729481	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	23424191	227729481	15469892	22	11595											
ILKAP	80895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	239079640	239079640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggtaaagaccttgaagaGcccatcacaggccaacaaaa	10	10	1	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr2:239079640G>T	ENST00000254654.3	-	11	1157	c.982C>A	c.(982-984)Ctc>Atc	p.L328I		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	328	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ACCTTGAAGAGCCCATCACAG	0.453																																					p.L328I		.											.	ILKAP-118	0			c.C982A						.						107	121	116					2																	239079640		2203	4300	6503	SO:0001583	missense	80895	exon11			TGAAGAGCCCATC	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.982C>A	2.37:g.239079640G>T	ENSP00000254654:p.Leu328Ile	Somatic	174	0		WXS	Illumina GAIIx	Phase_I	141	67	NM_030768	0	1	26	50	23	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285561	0.80803	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.16597	2.33;2.33	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.45422	1.42	0.58432	D	0.999996	P	0.52061	0.95	D	0.66716	0.946	T	0.00531	-1.1686	10	0.29301	T	0.29	-27.4657	18.4752	0.90790	0.0:0.0:1.0:0.0	.	328	Q9H0C8	ILKAP_HUMAN	I	328;145	ENSP00000254654:L328I;ENSP00000406254:L145I	ENSP00000254654:L328I	L	-	1	0	ILKAP	238744379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.603000	0.61105	2.655000	0.90218	0.655000	0.94253	CTC	.		0.453	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		T	239079640	G	T	239079640	3	4	55	1	0	0	0	0	1	0	0	0	7741	971	34	3	204	3	ILKAP	2	239079640	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	11350159	239079640	4119733	23	11596											
SI	6476	bcgsc.ca	37	chr3	164764719	164764719	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattgtctcctaaccaatgCgcagcatgtcttccagatcc	7	13	2	1	rs9838509	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr3:164764719C>A	ENST00000264382.3	-	16	1859	c.1797G>T	c.(1795-1797)gcG>gcT	p.A599A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	599	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A599A(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTAACCAATGCGCAGCATGTC	0.383										HNSCC(35;0.089)			T|||	3048	0.608626	0.4675	0.6225	5008	,	,		13303	0.8284		0.6282	False		,,,				2504	0.5429				p.A599A		.											.	SI-104	1	Substitution - coding silent(1)	prostate(1)	c.G1797T						.	T		2137,2269		526,1085,592	93	89	90		1797	-5.7	1	3	dbSNP_119	90	5139,3461		1533,2073,694	no	coding-synonymous	SI	NM_001041.3		2059,3158,1286	AA,AC,CC		40.2442,48.502,44.0566		599/1828	164764719	7276,5730	2203	4300	6503	SO:0001819	synonymous_variant	6476	exon16			CCAATGCGCAGCA	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.1797G>T	3.37:g.164764719C>A		Somatic	181	0		WXS	Illumina GAIIx	Phase_I	161	5	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																			C|0.416;A|0.584		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164764719	C	A	164764719	2	1	55	1	0	0	0	0	0	0	0	1	14342	755	27	2		2	SI	3	164764719	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		164764719	33257711	24	11597											
SPATA16	83893	bcgsc.ca	37	chr3	172766822	172766822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaatgaaacttgccacGcttgctatatcttcagcagg	8	11	3	1	rs508508	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr3:172766822G>A	ENST00000351008.3	-	3	858	c.675C>T	c.(673-675)agC>agT	p.S225S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	225					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTTGCCACGCTTGCTATAT	0.383													G|||	859	0.171526	0.2231	0.1801	5008	,	,		17129	0.1379		0.1511	False		,,,				2504	0.1513				p.S225S		.											.	SPATA16-94	0			c.C675T						.	G		1031,3375	380.2+/-323.6	131,769,1303	104	92	96		675	-2.7	1	3	dbSNP_83	96	1243,7357	249.3+/-276.6	92,1059,3149	no	coding-synonymous	SPATA16	NM_031955.5		223,1828,4452	AA,AG,GG		14.4535,23.3999,17.4842		225/570	172766822	2274,10732	2203	4300	6503	SO:0001819	synonymous_variant	83893	exon3			TGCCACGCTTGCT	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.675C>T	3.37:g.172766822G>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	79	5	NM_031955	0	0	0	0	0	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	CCDS3221.1																																																																																			G|0.824;A|0.176		0.383	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172766822	G	A	172766822	2	1	55	1	0	0	0	0	0	0	0	1	15048	1078	38	1		1	SPATA16	3	172766822	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	8002103	172766822	25255608	25	11598											
MAP6D1	79929	hgsc.bcm.edu	37	chr3	183543009	183543009	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaccccgcgggcgccgggCgcaggtggcgcggaggactg	20	13	0	1	rs114532244	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr3:183543009C>A	ENST00000318631.3	-	1	357	c.327G>T	c.(325-327)gcG>gcT	p.A109A	MAP6D1_ENST00000431348.1_Silent_p.A109A|MAP6D1_ENST00000463801.1_5'UTR	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	109					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026)	cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874)				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGCGCCGGGCGCAGGTGGCG	0.771													C|||	51	0.0101837	0.0325	0.0072	5008	,	,		9364	0		0.003	False		,,,				2504	0				p.A109A		.											.	MAP6D1-90	0			c.G327T						.	C		58,3080		0,58,1511	2	3	3		327	-0.3	0	3	dbSNP_132	3	7,6561		0,7,3277	no	coding-synonymous	MAP6D1	NM_024871.2		0,65,4788	AA,AC,CC		0.1066,1.8483,0.6697		109/200	183543009	65,9641	1569	3284	4853	SO:0001819	synonymous_variant	79929	exon1			GCCGGGCGCAGGT	BC006434	CCDS3247.1	3q27.1	2005-12-22			ENSG00000180834	ENSG00000180834			25753	protein-coding gene	gene with protein product		610593				12477932	Standard	NM_024871		Approved	FLJ12748	uc003fmc.2	Q9H9H5	OTTHUMG00000156900	ENST00000318631.3:c.327G>T	3.37:g.183543009C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	35	33	NM_024871	0	0	0	0	0		Silent	SNP	ENST00000318631.3	37	CCDS3247.1																																																																																			C|0.982;A|0.018		0.771	MAP6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346516.1	NM_024871		A	183543009	C	A	183543009	2	1	55	1	0	0	0	0	0	0	0	1	9303	755	27	2		2	MAP6D1	3	183543009	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	10776187	183543009	14479421	26	11599											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	10	19	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P		.											.	IDUA-91	0			c.A1120C						.						26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro	Somatic	71	6		WXS	Illumina GAIIx	Phase_I	131	54	NM_000203	0	0	4	5	1	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC	.		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		C	996204	A	C	996204	3	2	55	1	0	0	0	0	1	0	0	0	7531	159	6	5	1150	5	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10		996204	190158072	27	11600											
DOK7	285489	hgsc.bcm.edu	37	chr4	3495064	3495064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggctgggcacgagaCggcggggcctggtgatggag	21	9	0	2	rs16844470	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:3495064C>T	ENST00000340083.5	+	7	1416	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	DOK7_ENST00000389653.2_Missense_Mutation_p.R451W|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	451			R -> W (in dbSNP:rs16844470). {ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGCACGAGACGGCGGGGCCT	0.771													.|||	83	0.0165735	0.0598	0.0043	5008	,	,		12796	0		0	False		,,,				2504	0.001				p.R451W		.											.	DOK7-91	0			c.C1351T						.	C	,TRP/ARG	173,4055		1,171,1942	6	7	7		,1351	2.5	0.6	4	dbSNP_123	7	11,8329		0,11,4159	no	utr-3,missense	DOK7	NM_001164673.1,NM_173660.4	,101	1,182,6101	TT,TC,CC		0.1319,4.0918,1.464	,probably-damaging	,451/505	3495064	184,12384	2114	4170	6284	SO:0001583	missense	285489	exon7			ACGAGACGGCGGG	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1351C>T	4.37:g.3495064C>T	ENSP00000344432:p.Arg451Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	17	0.007783882783882784	15	0.03048780487804878	2	0.0055248618784530384	0	0.0	0	0.0	C	13.64	2.297697	0.40694	0.040918	0.001319	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.66815	-0.23;-0.14	4.29	2.51	0.30379	.	0.374919	0.23426	N	0.048314	T	0.45216	0.1331	M	0.68317	2.08	0.09310	N	1	D;D;B	0.89917	1.0;1.0;0.27	P;D;B	0.67382	0.897;0.951;0.026	T	0.52388	-0.8582	10	0.62326	D	0.03	-7.8434	7.5471	0.27772	0.1653:0.7458:0.0:0.089	rs16844470;rs16844470	451;313;451	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	W	451	ENSP00000374304:R451W;ENSP00000344432:R451W	ENSP00000344432:R451W	R	+	1	2	DOK7	3464862	0.000000	0.05858	0.621000	0.29145	0.160000	0.22226	0.169000	0.16641	0.787000	0.33731	0.555000	0.69702	CGG	C|0.990;T|0.010		0.771	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		T	3495064	C	T	3495064	3	4	55	1	0	0	0	0	1	0	0	0	4716	527	19	1	1377	1	DOK7	4	3495064	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	2498860	3495064	187659212	28	11601											
CRMP1	1400	hgsc.bcm.edu	37	chr4	5894586	5894586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaggcgccctccaccgcGgcgaacatgccgccgtactt	11	17	0	0	rs143304363	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:5894586G>A	ENST00000324989.7	-	1	199	c.111C>T	c.(109-111)gcC>gcT	p.A37A	CRMP1_ENST00000512574.1_5'Flank	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	0					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTCCACCGCGGCGAACATGC	0.756													G|||	277	0.0553115	0.0076	0.0461	5008	,	,		4031	0.0437		0.0805	False		,,,				2504	0.1125				p.A37A		.											.	CRMP1-92	0			c.C111T						.	G		56,3324		2,52,1636	4	4	4		111	0.2	1	4	dbSNP_134	4	409,6095		9,391,2852	no	coding-synonymous	CRMP1	NM_001014809.1		11,443,4488	AA,AG,GG		6.2884,1.6568,4.7046		37/687	5894586	465,9419	1690	3252	4942	SO:0001819	synonymous_variant	1400	exon1			CACCGCGGCGAAC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000324989.7:c.111C>T	4.37:g.5894586G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	11	NM_001014809	0	0	0	1	1	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000324989.7	37	CCDS33950.1																																																																																			G|0.946;A|0.054		0.756	CRMP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246814.2	NM_001313		A	5894586	G	A	5894586	2	1	55	1	0	0	0	0	0	0	0	1	3897	1103	39	1		1	CRMP1	4	5894586	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	2399522	5894586	185259690	29	11602											
CPZ	8532	broad.mit.edu	37	chr4	8621339	8621339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgctggctgctcaagTactagccccggccccagcac	11	18	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:8621339T>G	ENST00000360986.4	+	11	2128	c.1954T>G	c.(1954-1956)Tac>Gac	p.Y652D	CPZ_ENST00000315782.6_Missense_Mutation_p.Y641D|CPZ_ENST00000382480.2_Missense_Mutation_p.Y515D|CPZ_ENST00000429646.2_Missense_Mutation_p.Y260D	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	652					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTGCTCAAGTACTAGCCCCG	0.667																																					p.Y652D		.											.	CPZ-93	0			c.T1954G						.						15	15	15					4																	8621339		2197	4293	6490	SO:0001583	missense	8532	exon11			CTCAAGTACTAGC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1954T>G	4.37:g.8621339T>G	ENSP00000354255:p.Tyr652Asp	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	34	4	NM_001014447	0	0	6	6	0	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563445	0.45694	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.59638	0.56;1.95;0.25;1.76	4.55	4.55	0.56014	.	0.514451	0.18046	N	0.153444	T	0.65575	0.2704	L	0.60455	1.87	0.27808	N	0.94226	D;D	0.62365	0.991;0.985	P;P	0.59487	0.858;0.724	T	0.60515	-0.7248	10	0.72032	D	0.01	.	7.6329	0.28249	0.0:0.1064:0.0:0.8936	.	641;652	Q66K79-2;Q66K79	.;CBPZ_HUMAN	D	652;515;641;260	ENSP00000354255:Y652D;ENSP00000371920:Y515D;ENSP00000315074:Y641D;ENSP00000403981:Y260D	ENSP00000315074:Y641D	Y	+	1	0	CPZ	8672239	0.994000	0.37717	1.000000	0.80357	0.354000	0.29330	0.838000	0.27572	1.687000	0.51057	0.379000	0.24179	TAC	.		0.667	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		G	8621339	T	G	8621339	3	3	55	1	0	0	0	0	1	0	0	0	3846	1638	57	5	1996	5	CPZ	4	8621339	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	2726753	8621339	182532937	30	11603											
CSN1S1	1446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	70802862	70802862	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actaggaatgagtctactcaGgtgagaccctttgttttaaa	9	7	2	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:70802862G>T	ENST00000246891.4	+	8	268	c.219G>T	c.(217-219)caG>caT	p.Q73H	CSN1S1_ENST00000507763.1_Splice_Site_p.Q72H|CSN1S1_ENST00000444405.3_Splice_Site_p.Q72H|CSN1S1_ENST00000507772.1_Splice_Site_p.Q73H|CSN1S1_ENST00000505782.1_Intron	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	73						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTCTACTCAGGTGAGACCCT	0.299																																					p.Q73H		.											.	.	0			c.G219T						.						30	30	30					4																	70802862		1780	3999	5779	SO:0001630	splice_region_variant	1446	exon8			TACTCAGGTGAGA	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.219+1G>T	4.37:g.70802862G>T		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	239	43	NM_001890	0	0	0	0	0	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755659	0.15846	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000507763;ENST00000507772	T;T;T;T	0.46819	0.87;0.86;0.86;0.86	3.25	0.0712	0.14381	.	.	.	.	.	T	0.23727	0.0574	N	0.08118	0	.	.	.	B;B;B	0.22541	0.071;0.071;0.071	B;B;B	0.22601	0.04;0.04;0.04	T	0.19679	-1.0298	8	0.87932	D	0	0.004	3.7241	0.08467	0.1881:0.0:0.577:0.2349	.	73;72;73	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	H	73;72;72;73	ENSP00000246891:Q73H;ENSP00000413157:Q72H;ENSP00000422611:Q72H;ENSP00000427490:Q73H	ENSP00000246891:Q73H	Q	+	3	2	CSN1S1	70837451	0.044000	0.20184	0.198000	0.23420	0.016000	0.09150	-0.086000	0.11233	0.000000	0.14550	0.478000	0.44815	CAG	.		0.299	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		Missense_Mutation	T	70802862	G	T	70802862	5	4	55	1	0	0	0	0	0	0	1	0	3956	1014	35	3	245	3	CSN1S1	4	70802862	Splice_Site	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	62181523	70802862	120351414	31	11604											
CSN1S1	1446	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	70810573	70810573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtttttccctctagcctttCcagcagctcaaccaacttgc	5	15	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:70810573C>A	ENST00000246891.4	+	15	457	c.408C>A	c.(406-408)ttC>ttA	p.F136L	CSN1S1_ENST00000507763.1_Missense_Mutation_p.F127L|CSN1S1_ENST00000444405.3_Missense_Mutation_p.F127L|CSN1S1_ENST00000507772.1_Missense_Mutation_p.F128L|CSN1S1_ENST00000505782.1_Missense_Mutation_p.F120L	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	136						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TCTAGCCTTTCCAGCAGCTCA	0.413																																					p.F136L		.											.	.	0			c.C408A						.						352	338	343					4																	70810573		1945	4136	6081	SO:0001583	missense	1446	exon15			GCCTTTCCAGCAG	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.408C>A	4.37:g.70810573C>A	ENSP00000246891:p.Phe136Leu	Somatic	151	1		WXS	Illumina GAIIx	Phase_I	254	70	NM_001890	0	0	0	0	0	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	C	9.038	0.989017	0.18966	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.42513	1.0;0.99;0.99;0.99;1.0;0.97	4.08	3.21	0.36854	.	0.976699	0.08353	N	0.958955	T	0.36936	0.0985	L	0.49126	1.545	0.09310	N	1.0	P;P;P	0.37101	0.582;0.582;0.582	B;B;B	0.33392	0.163;0.163;0.163	T	0.42799	-0.9430	9	0.46703	T	0.11	-0.1926	9.6654	0.39981	0.0:0.7878:0.2122:0.0	.	128;127;136	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	L	136;127;128;127;128;120;27	ENSP00000246891:F136L;ENSP00000413157:F127L;ENSP00000422611:F127L;ENSP00000427490:F128L;ENSP00000426684:F120L;ENSP00000421314:F27L	ENSP00000246891:F136L	F	+	3	2	CSN1S1	70845162	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	0.699000	0.25586	1.235000	0.43724	0.655000	0.94253	TTC	.		0.413	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			A	70810573	C	A	70810573	3	1	55	1	0	0	0	0	1	0	0	0	3956	854	30	3	462	3	CSN1S1	4	70810573	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	7711	70810573	120343703	32	11605											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001029870	0	0	0	2	2	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	55	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	7007629	77818202	113336074	33	11606											
DSPP	1834	bcgsc.ca	37	chr4	88537051	88537051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgacagcagcgacagcagTgatagcagtgaaagcagtga	14	7	0	4	rs371970214		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:88537051T>C	ENST00000282478.7	+	4	3270	c.3237T>C	c.(3235-3237)agT>agC	p.S1079S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1079S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1079	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)		gcgacagcagtgatagcagtg	0.552																																					p.S1079S		.											.	DSPP-90	0			c.T3237C						.						42	49	47					4																	88537051		1482	2726	4208	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGATAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3237T>C	4.37:g.88537051T>C		Somatic	1025	16		WXS	Illumina GAIIx	Phase_I	752	39	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.552	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537051	T	C	88537051	2	2	55	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537051	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	10718849	88537051	102617225	34	11607											
DSPP	1834	bcgsc.ca	37	chr4	88537117	88537117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagcgatagcagcgaCagcagcgacagcagcgatag	14	11	0	0	rs199799532	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:88537117C>T	ENST00000282478.7	+	4	3336	c.3303C>T	c.(3301-3303)gaC>gaT	p.D1101D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1101D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1101	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)		atagcagcgacagcagcgaca	0.537													C|||	689	0.13758	0.0968	0.1427	5008	,	,		12804	0.1528		0.1461	False		,,,				2504	0.1646				p.D1101D		.											.	DSPP-90	0			c.C3303T						.						13	20	18					4																	88537117		1053	1995	3048	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGC	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.3303C>T	4.37:g.88537117C>T		Somatic	643	15		WXS	Illumina GAIIx	Phase_I	329	28	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537117	C	T	88537117	2	4	55	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537117	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	66	88537117	102617159	35	11608											
METTL14	57721	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	119626935	119626935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatttttgtcttggtagaaGacgccttcatctatttggaa	9	7	3	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:119626935G>A	ENST00000388822.5	+	10	1192	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	METTL14_ENST00000506780.1_Missense_Mutation_p.R304K			Q9HCE5	MET14_HUMAN	methyltransferase like 14	342					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CTTGGTAGAAGACGCCTTCAT	0.333																																					p.R342K		.											.	METTL14-90	0			c.G1025A						.						79	81	81					4																	119626935		2203	4300	6503	SO:0001583	missense	57721	exon10			GTAGAAGACGCCT	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1025G>A	4.37:g.119626935G>A	ENSP00000373474:p.Arg342Lys	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	87	21	NM_020961	0	0	10	10	0	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239670	0.95240	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.38077	1.16;1.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.72894	2.215	0.80722	D	1	D;D	0.58970	0.984;0.972	P;P	0.58577	0.779;0.841	T	0.56153	-0.8026	10	0.51188	T	0.08	-2.8726	20.0938	0.97831	0.0:0.0:1.0:0.0	.	304;342	D6RBL4;Q9HCE5	.;MTL14_HUMAN	K	342;304	ENSP00000373474:R342K;ENSP00000424111:R304K	ENSP00000373474:R342K	R	+	2	0	METTL14	119846383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.757000	0.94681	0.585000	0.79938	AGA	.		0.333	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		A	119626935	G	A	119626935	3	1	55	1	0	0	0	0	1	0	0	0	9536	942	33	3	1063	3	METTL14	4	119626935	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	31089818	119626935	71527341	36	11609											
SMARCA5	8467	bcgsc.ca	37	chr4	144442735	144442735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgagaagcagaacttaCtatccgttggcgagtgagta	12	6	0	4	rs11541117	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:144442735C>T	ENST00000283131.3	+	3	868	c.406C>T	c.(406-408)Cta>Tta	p.L136L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	136					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)					GCAGAACTTACTATCCGTTGG	0.378													C|||	2603	0.519768	0.5129	0.4251	5008	,	,		15820	0.744		0.4175	False		,,,				2504	0.4703				p.L136L		.											.	SMARCA5-227	0			c.C406T						.	C		2287,2119	594.5+/-388.2	596,1095,512	42	41	42		406	1.1	0.1	4	dbSNP_120	42	3646,4954	517.0+/-378.9	789,2068,1443	no	coding-synonymous	SMARCA5	NM_003601.3		1385,3163,1955	TT,TC,CC		42.3953,48.0935,45.6174		136/1053	144442735	5933,7073	2203	4300	6503	SO:0001819	synonymous_variant	8467	exon3			AACTTACTATCCG	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.406C>T	4.37:g.144442735C>T		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	154	7	NM_003601	0	0	0	0	0		Silent	SNP	ENST00000283131.3	37	CCDS3761.1																																																																																			C|0.512;T|0.488		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			T	144442735	C	T	144442735	2	4	55	1	0	0	0	0	0	0	0	1	14816	564	20	3		3	SMARCA5	4	144442735	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	24815800	144442735	46711541	37	11610											
TRIM60	166655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	165962195	165962195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatatgaaagaaaaaaacGaaacatttgttatgacccaa	7	6	0	3	rs371675727		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr4:165962195G>A	ENST00000512596.1	+	3	1187	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_ENST00000341062.5_Missense_Mutation_p.R324Q|TRIM60_ENST00000508504.1_Missense_Mutation_p.R324Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	324	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R324Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418																																					p.R324Q		.											.	TRIM60-226	1	Substitution - Missense(1)	large_intestine(1)	c.G971A						.						104	106	105					4																	165962195		2203	4300	6503	SO:0001583	missense	166655	exon4			AAAAACGAAACAT	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.971G>A	4.37:g.165962195G>A	ENSP00000421142:p.Arg324Gln	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	154	33	NM_001258025	0	0	0	0	0	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	g	2.421	-0.333126	0.05278	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.06687	3.27;3.27;3.27	2.49	-4.98	0.03019	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.660443	0.11343	N	0.573786	T	0.01287	0.0042	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	10	0.02654	T	1	.	6.1076	0.20081	0.3102:0.3951:0.2948:0.0	.	324	Q495X7	TRI60_HUMAN	Q	324	ENSP00000421142:R324Q;ENSP00000426496:R324Q;ENSP00000343765:R324Q	ENSP00000343765:R324Q	R	+	2	0	TRIM60	166181645	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.965000	0.03829	-2.237000	0.00712	-2.294000	0.00264	CGA	.		0.418	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		A	165962195	G	A	165962195	3	1	55	1	0	0	0	0	1	0	0	0	16583	1058	37	1	973	1	TRIM60	4	165962195	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	21519460	165962195	25192081	38	11611											
ADAMTS16	170690	hgsc.bcm.edu	37	chr5	5140632	5140632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcgctgtggatgctgTtggcgcaggtggccgagcag	20	9	0	0	rs270208	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:5140632T>C	ENST00000274181.7	+	1	190	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	ADAMTS16_ENST00000511368.1_Silent_p.L18L|CTD-2297D10.2_ENST00000512155.1_RNA|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18					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						GTGGATGCTGTTGGCGCAGGT	0.766													C|||	3127	0.624401	0.6747	0.6571	5008	,	,		8861	0.8065		0.501	False		,,,				2504	0.4724				p.L18L		.											.	ADAMTS16-275	0			c.T52C						.	C		2046,874		775,496,189	2	5	4		52	1.2	1	5	dbSNP_79	4	3653,3047		1121,1411,818	no	coding-synonymous	ADAMTS16	NM_139056.2		1896,1907,1007	CC,CT,TT		45.4776,29.9315,40.7588		18/1225	5140632	5699,3921	1460	3350	4810	SO:0001819	synonymous_variant	170690	exon1			ATGCTGTTGGCGC	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.52T>C	5.37:g.5140632T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			T|0.352;C|0.648		0.766	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5140632	T	C	5140632	2	2	55	1	0	0	0	0	0	0	0	1	261	1722	60	4		4	ADAMTS16	5	5140632	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10		5140632	175774628	39	11612											
SEMA5A	9037	broad.mit.edu	37	chr5	9197318	9197318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgggatacggtagccaggCcgagcgcgagttttcttggt	16	8	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:9197318C>A	ENST00000382496.5	-	10	1695	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S		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	344	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						GGTAGCCAGGCCGAGCGCGAG	0.582																																					p.A344S		.											.	SEMA5A-91	0			c.G1030T						.						87	85	86					5																	9197318		2203	4300	6503	SO:0001583	missense	9037	exon10			GCCAGGCCGAGCG	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.1030G>T	5.37:g.9197318C>A	ENSP00000371936:p.Ala344Ser	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	129	9	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316962	0.95682	.	.	ENSG00000112902	ENST00000382496	T	0.10763	2.84	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.53561	1.675	0.80722	D	1	D	0.55605	0.972	P	0.58266	0.836	T	0.00116	-1.2036	10	0.54805	T	0.06	.	16.7642	0.85520	0.0:1.0:0.0:0.0	.	344	Q13591	SEM5A_HUMAN	S	344	ENSP00000371936:A344S	ENSP00000371936:A344S	A	-	1	0	SEMA5A	9250318	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.749000	0.62155	2.621000	0.88768	0.603000	0.83216	GCC	.		0.582	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9197318	C	A	9197318	3	1	55	1	0	0	0	0	1	0	0	0	14082	739	26	3	2250	3	SEMA5A	5	9197318	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	4056686	9197318	171717942	40	11613											
FYB	2533	broad.mit.edu	37	chr5	39135108	39135108	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatggatgacttgaataggGcctgttagctgcaaagagaa	13	5	0	4			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:39135108G>T	ENST00000351578.6	-	8	1714	c.1524C>A	c.(1522-1524)ggC>ggA	p.G508G	FYB_ENST00000540520.1_Silent_p.G518G|FYB_ENST00000512982.1_Silent_p.G508G|FYB_ENST00000515010.1_Silent_p.G508G|FYB_ENST00000505428.1_Silent_p.G508G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	508					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTGAATAGGGCCTGTTAGCT	0.343																																					p.G518G		.											.	FYB-24	0			c.C1554A						.						143	126	131					5																	39135108		1826	4093	5919	SO:0001819	synonymous_variant	2533	exon8			AATAGGGCCTGTT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1524C>A	5.37:g.39135108G>T		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	79	3	NM_001243093	0	0	0	0	0	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																			.		0.343	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39135108	G	T	39135108	2	4	55	1	0	0	0	0	0	0	0	1	6148	1190	42	3		3	FYB	5	39135108	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	29937790	39135108	141780152	41	11614											
MAST4	375449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	66462103	66462103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagccggccgccaacaccGacagaagggcggaagggaag	16	12	1	1	rs377512686		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:66462103G>A	ENST00000403625.2	+	29	7391	c.7096G>A	c.(7096-7098)Gac>Aac	p.D2366N	MAST4_ENST00000403666.1_Missense_Mutation_p.D2177N|MAST4_ENST00000405643.1_Missense_Mutation_p.D2187N|MAST4_ENST00000261569.7_Missense_Mutation_p.D2172N|MAST4_ENST00000404260.3_Missense_Mutation_p.D2369N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2369						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)		CGCCAACACCGACAGAAGGGC	0.567											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D2366N		.											.	MAST4-647	0			c.G7096A						.						17	28	24					5																	66462103		2071	4174	6245	SO:0001583	missense	375449	exon29			AACACCGACAGAA	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.7096G>A	5.37:g.66462103G>A	ENSP00000385727:p.Asp2366Asn	Somatic	96	0	1092	WXS	Illumina GAIIx	Phase_I	135	33	NM_001164664	0	0	15	21	6	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.278180|2.278180	0.40294|0.40294	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.70631|.	-0.48;-0.48;-0.5;-0.5;-0.47|.	4.58|4.58	3.71|3.71	0.42584|0.42584	.|.	1.119980|.	0.06787|.	N|.	0.786361|.	T|T	0.33990|0.33990	0.0882|0.0882	N|N	0.20986|0.20986	0.625|0.625	0.30331|0.30331	N|N	0.786644|0.786644	B;B|.	0.21381|.	0.033;0.055|.	B;B|.	0.15484|.	0.006;0.013|.	T|T	0.27971|0.27971	-1.0058|-1.0058	10|5	0.72032|.	D|.	0.01|.	-19.2472|-19.2472	12.7288|12.7288	0.57187|0.57187	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	2369;2177|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	N|Q	2369;2366;2177;2187;2187;2172|1422	ENSP00000385048:D2369N;ENSP00000385727:D2366N;ENSP00000384313:D2177N;ENSP00000384099:D2187N;ENSP00000261569:D2172N|.	ENSP00000261569:D2172N|.	D|R	+|+	1|2	0|0	MAST4|MAST4	66497859|66497859	1.000000|1.000000	0.71417|0.71417	0.560000|0.560000	0.28344|0.28344	0.426000|0.426000	0.31534|0.31534	5.084000|5.084000	0.64462|0.64462	1.149000|1.149000	0.42402|0.42402	0.561000|0.561000	0.74099|0.74099	GAC|CGA	.		0.567	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66462103	G	A	66462103	3	1	55	1	0	0	0	0	1	0	0	0	9365	1058	37	1	7340	1	MAST4	5	66462103	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	27326995	66462103	114453157	42	11615											
CENPH	64946	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	68485476	68485476	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaatggaggagcagccCcagatgcaagacgccgacga	13	13	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:68485476C>G	ENST00000283006.2	+	1	102	c.15C>G	c.(13-15)ccC>ccG	p.P5P	CENPH_ENST00000515001.1_Silent_p.P5P	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AGGAGCAGCCCCAGATGCAAG	0.677																																					p.P5P		.											.	CENPH-153	0			c.C15G						.						14	17	16					5																	68485476		2190	4290	6480	SO:0001819	synonymous_variant	64946	exon1			GCAGCCCCAGATG	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.15C>G	5.37:g.68485476C>G		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	51	12	NM_022909	0	0	0	1	1		Silent	SNP	ENST00000283006.2	37	CCDS3998.1																																																																																			.		0.677	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			G	68485476	C	G	68485476	2	3	55	1	0	0	0	0	0	0	0	1	3239	610	22	3		3	CENPH	5	68485476	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	2023373	68485476	112429784	43	11616											
VCAN	1462	broad.mit.edu;bcgsc.ca	37	chr5	82833991	82833991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtaccactgttgaggaaaaGaaaaggaaggaggaggaggg	17	3	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:82833991G>T	ENST00000265077.3	+	8	5734	c.5169G>T	c.(5167-5169)aaG>aaT	p.K1723N	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.K736N|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1723	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGAGGAAAAGAAAAGGAAGG	0.408																																					p.K1723N		.											.	VCAN-238	0			c.G5169T						.						84	87	86					5																	82833991		2201	4300	6501	SO:0001583	missense	1462	exon8			GGAAAAGAAAAGG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5169G>T	5.37:g.82833991G>T	ENSP00000265077:p.Lys1723Asn	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	76	5	NM_004385	0	0	2	2	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938563	0.34189	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.90261	-2.63;-2.64;2.46	5.96	-0.0549	0.13812	.	0.680537	0.14498	N	0.315960	D	0.84772	0.5546	L	0.40543	1.245	0.09310	N	1	B;B	0.26902	0.144;0.163	B;B	0.26094	0.066;0.03	T	0.73591	-0.3934	10	0.48119	T	0.1	.	10.5844	0.45273	0.4559:0.0:0.5441:0.0	.	736;1723	P13611-2;P13611	.;CSPG2_HUMAN	N	1723;736;736	ENSP00000265077:K1723N;ENSP00000340062:K736N;ENSP00000426251:K736N	ENSP00000265077:K1723N	K	+	3	2	VCAN	82869747	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.231000	0.17872	-0.067000	0.12976	-0.136000	0.14681	AAG	.		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82833991	G	T	82833991	3	4	55	1	0	0	0	0	1	0	0	0	17187	933	33	3	5195	3	VCAN	5	82833991	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	14348515	82833991	98081269	44	11617											
CAMK4	814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	110819981	110819981	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatataaatgctgaagaggcCcccaaaatggtgcccaaggc	11	10	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:110819981C>A	ENST00000282356.4	+	11	1637	c.1239C>A	c.(1237-1239)gcC>gcA	p.A413A	CAMK4_ENST00000512453.1_Silent_p.A413A|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	413					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTGAAGAGGCCCCCAAAATGG	0.552																																					p.A413A		.											.	CAMK4-386	0			c.C1239A						.						52	55	54					5																	110819981		2202	4300	6502	SO:0001819	synonymous_variant	814	exon11			AGAGGCCCCCAAA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1239C>A	5.37:g.110819981C>A		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	127	39	NM_001744	0	0	0	0	0	D3DSZ7	Silent	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																			.		0.552	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		A	110819981	C	A	110819981	2	1	55	1	0	0	0	0	0	0	0	1	2612	610	22	3		3	CAMK4	5	110819981	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	27985990	110819981	70095279	45	11618											
AQPEP	206338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	115336915	115336915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgaaaacattaaaaAtcggactcttctaaccagca	4	9	3	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:115336915A>G	ENST00000357872.4	+	10	1923	c.1799A>G	c.(1798-1800)aAt>aGt	p.N600S	AQPEP_ENST00000395528.2_Missense_Mutation_p.N117S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		600						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AACATTAAAAATCGGACTCTT	0.448																																					p.N600S		.											.	.	0			c.A1799G						.						106	105	106					5																	115336915		2202	4300	6502	SO:0001583	missense	0	exon10			TTAAAAATCGGAC																												ENST00000357872.4:c.1799A>G	5.37:g.115336915A>G	ENSP00000350541:p.Asn600Ser	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	376	100	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024415	0.35701	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.07216	3.21;5.02	5.48	2.91	0.33838	.	2.309540	0.01451	N	0.015505	T	0.09468	0.0233	L	0.32530	0.975	0.37009	D	0.895627	B	0.31968	0.349	B	0.28638	0.092	T	0.14008	-1.0488	10	0.36615	T	0.2	.	10.7584	0.46251	0.6977:0.3023:0.0:0.0	.	600	Q6Q4G3	AMPQ_HUMAN	S	117;600;589	ENSP00000378899:N117S;ENSP00000350541:N600S	ENSP00000350541:N600S	N	+	2	0	AC010282.1	115364814	1.000000	0.71417	0.990000	0.47175	0.687000	0.40016	2.395000	0.44459	0.879000	0.35944	0.460000	0.39030	AAT	.		0.448	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			G	115336915	A	G	115336915	3	3	55	1	0	0	0	0	1	0	0	0	834	101	4	4	1837	4	AQPEP	5	115336915	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	4516934	115336915	65578345	46	11619											
SLC26A2	1836	hgsc.bcm.edu;broad.mit.edu	37	chr5	149360347	149360348	+	Frame_Shift_Del	DEL	TG	TG	-													atcattggttttgctatcacTgtatcactttctgagatgtt					rs374310335		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:149360347_149360348delTG	ENST00000286298.4	+	3	1459_1460	c.1191_1192delTG	c.(1189-1194)actgtafs	p.V398fs		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	398					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGCTATCACTGTATCACTTTC	0.406																																					p.397_398del		.											.	SLC26A2-90	0			c.1191_1192del						.																																			SO:0001589	frameshift_variant	1836	exon3			TATCACTGTATCA	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1191_1192delTG	5.37:g.149360347_149360348delTG	ENSP00000286298:p.Val398fs	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	130	12	NM_000112	0	0	0	0	0	A8K2U3|B2R6J1|Q6N051	Frame_Shift_Del	DEL	ENST00000286298.4	37	CCDS4300.1																																																																																			.		0.406	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		-	149360348	TG	-	149360347	7	5	55	1	0	1	0	1	0	0	0	0	14562	1567	55	0	1197	0	SLC26A2	5	149360347	Frame_Shift_Del	DEL	TG	TCGA-OR-A5LO-01A-11D-A29I-10	34023432	149360347	31554913	47	11620											
NIPAL4	348938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	156899852	156899852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacccacccccttctcccGccccggaacccactgttatt	4	20	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:156899852G>A	ENST00000311946.7	+	6	1401	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A410T	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	429						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCTTCTCCCGCCCCGGAACC	0.512																																					p.A429T		.											.	NIPAL4-68	0			c.G1285A						.						39	38	39					5																	156899852		1915	4129	6044	SO:0001583	missense	348938	exon6			TCTCCCGCCCCGG	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1285G>A	5.37:g.156899852G>A	ENSP00000311687:p.Ala429Thr	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	95	46	NM_001099287	0	0	0	0	0	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	3.535	-0.094927	0.07010	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90444	-2.63;-2.67	5.93	-2.56	0.06268	.	1.041360	0.07411	N	0.892376	T	0.77498	0.4139	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.09377	0.004;0.001	T	0.62006	-0.6945	10	0.12766	T	0.61	-0.8624	5.4735	0.16682	0.4325:0.0:0.3569:0.2106	.	410;429	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	T	410;429	ENSP00000406456:A410T;ENSP00000311687:A429T	ENSP00000311687:A429T	A	+	1	0	NIPAL4	156832430	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.092000	0.15066	-0.380000	0.07894	-0.258000	0.10820	GCC	.		0.512	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		A	156899852	G	A	156899852	3	1	55	1	0	0	0	0	1	0	0	0	10466	1087	38	1	1307	1	NIPAL4	5	156899852	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	7539505	156899852	24015408	48	11621											
DBN1	1627	hgsc.bcm.edu	37	chr5	176900502	176900502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctccaggcggtggccGctgaagctgacgccggccat	15	14	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:176900502G>A	ENST00000309007.5	-	1	240	c.21C>T	c.(19-21)agC>agT	p.S7S	DBN1_ENST00000292385.5_5'Flank|DBN1_ENST00000393565.1_Silent_p.S7S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	7	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGGTGGCCGCTGAAGCTGA	0.736																																					p.S7S		.											.	DBN1-587	0			c.C21T						.						2	2	2					5																	176900502		1495	2999	4494	SO:0001819	synonymous_variant	1627	exon1			GTGGCCGCTGAAG		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.21C>T	5.37:g.176900502G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	32	4	NM_004395	0	0	7	7	0	A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	CCDS4420.1																																																																																			.		0.736	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		A	176900502	G	A	176900502	2	1	55	1	0	0	0	0	0	0	0	1	4261	1078	38	1		1	DBN1	5	176900502	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	20000650	176900502	4014758	49	11622											
ADAMTS2	9509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178608155	178608155	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatggtagatttcattgAcctgaaagaaacagggaggc	12	7	2	4			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr5:178608155A>G	ENST00000251582.7	-	5	994	c.893T>C	c.(892-894)gTc>gCc	p.V298A	ADAMTS2_ENST00000274609.5_Splice_Site_p.V298A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GATTTCATTGACCTGAAAGAA	0.562																																					p.V298A		.											.	ADAMTS2-228	0			c.T893C						.						119	89	99					5																	178608155		2203	4300	6503	SO:0001630	splice_region_variant	9509	exon5			TCATTGACCTGAA	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.892-1T>C	5.37:g.178608155A>G		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	240	69	NM_021599	0	0	0	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125869	0.56721	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.89617	-2.54;-2.54	4.33	4.33	0.51752	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.350108	0.20141	U	0.098364	D	0.89801	0.6820	L	0.57536	1.79	0.80722	D	1	P;D	0.54047	0.891;0.964	P;P	0.51742	0.543;0.678	D	0.90391	0.4395	10	0.87932	D	0	.	11.5023	0.50446	1.0:0.0:0.0:0.0	.	298;298	O95450-2;O95450	.;ATS2_HUMAN	A	298	ENSP00000251582:V298A;ENSP00000274609:V298A	ENSP00000251582:V298A	V	-	2	0	ADAMTS2	178540761	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.540000	0.82074	1.803000	0.52742	0.459000	0.35465	GTC	.		0.562	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	Missense_Mutation	G	178608155	A	G	178608155	5	3	55	1	0	0	0	0	0	0	1	0	265	289	10	4	2889	4	ADAMTS2	5	178608155	Splice_Site	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	1707653	178608155	2307105	50	11623											
CD83	9308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	14131769	14131769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttattggagggtggtgaaGagaggatggagacaccccag	17	5	0	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:14131769G>C	ENST00000379153.3	+	3	343	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502																																					p.E58Q		.											.	CD83-90	0			c.G172C						.						76	72	73					6																	14131769		2203	4300	6503	SO:0001583	missense	9308	exon3			GGTGAAGAGAGGA	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.172G>C	6.37:g.14131769G>C	ENSP00000368450:p.Glu58Gln	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	127	46	NM_004233	0	0	34	59	25	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050582	0.55218	.	.	ENSG00000112149	ENST00000379153	T	0.66460	-0.21	5.39	0.0343	0.14183	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.596334	0.17670	N	0.166010	T	0.43942	0.1270	M	0.65498	2.005	0.09310	N	1	B	0.22746	0.074	B	0.23574	0.047	T	0.50750	-0.8791	10	0.66056	D	0.02	0.2392	10.3167	0.43740	0.0797:0.5462:0.3742:0.0	.	58	Q01151	CD83_HUMAN	Q	58	ENSP00000368450:E58Q	ENSP00000368450:E58Q	E	+	1	0	CD83	14239748	0.291000	0.24352	0.001000	0.08648	0.098000	0.18820	0.223000	0.17719	-0.206000	0.10203	0.655000	0.94253	GAG	.		0.502	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			C	14131769	G	C	14131769	3	2	55	1	0	0	0	0	1	0	0	0	3048	943	33	3	182	3	CD83	6	14131769	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		14131769	156983298	51	11624											
ATXN1	6310	broad.mit.edu	37	chr6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgatgctgaTgctgctgctgctgctgctgc					rs28555263	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cagcat>cat	p.Q208del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q208del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665																																					p.208_209del		.											.	ATXN1-93	0			c.624_626del						.																																			SO:0001651	inframe_deletion	6310	exon7			TGCTGATGCTGCT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626delGCA	6.37:g.16327925_16327927delTGC	ENSP00000244769:p.Gln208del	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	30	19	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		-	16327918	TGC	-	16327916	7	5	55	1	0	1	0	1	0	0	0	0	1210	1464	51	0	1829	0	ATXN1	6	16327916	In_Frame_Del	DEL	TGC	TCGA-OR-A5LO-01A-11D-A29I-10	2196147	16327916	154787151	52	11625											
HIST1H1E	3008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26156922	26156922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagggcaccggcgcgTcgggttccttcaaactcaac	11	14	2	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:26156922T>A	ENST00000304218.3	+	1	364	c.304T>A	c.(304-306)Tcg>Acg	p.S102T	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	102	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CACCGGCGCGTCGGGTTCCTT	0.617																																					p.S102T		.											.	HIST1H1E-154	0			c.T304A						.						41	47	45					6																	26156922		2203	4300	6503	SO:0001583	missense	3008	exon1			GGCGCGTCGGGTT	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.304T>A	6.37:g.26156922T>A	ENSP00000307705:p.Ser102Thr	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	124	64	NM_005321	0	0	1	3	2	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432561	0.62844	.	.	ENSG00000168298	ENST00000304218	T	0.25749	1.78	5.35	5.35	0.76521	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.063724	0.64402	D	0.000004	T	0.46521	0.1397	M	0.82517	2.595	0.54753	D	0.999989	D	0.71674	0.998	D	0.76071	0.987	T	0.54892	-0.8225	10	0.87932	D	0	-5.2304	14.7974	0.69886	0.0:0.0:0.0:1.0	.	102	P10412	H14_HUMAN	T	102	ENSP00000307705:S102T	ENSP00000307705:S102T	S	+	1	0	HIST1H1E	26264901	1.000000	0.71417	0.306000	0.25113	0.521000	0.34408	3.971000	0.56831	2.146000	0.66826	0.459000	0.35465	TCG	.		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26156922	T	A	26156922	3	1	55	1	0	0	0	0	1	0	0	0	7153	1667	58	5	306	5	HIST1H1E	6	26156922	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	9829006	26156922	144958145	53	11626											
MUC21	394263	bcgsc.ca	37	chr6	30954594	30954594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcacagccaccaactctgaGtccagaacgacctccaatgg	8	15	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:30954594G>C	ENST00000376296.3	+	2	883	c.642G>C	c.(640-642)gaG>gaC	p.E214D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	214	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						CCAACTCTGAGTCCAGAACGA	0.612																																					p.E214D		.											.	MUC21-92	0			c.G642C						.						154	152	153					6																	30954594		2203	4300	6503	SO:0001583	missense	394263	exon2			CTCTGAGTCCAGA	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.642G>C	6.37:g.30954594G>C	ENSP00000365473:p.Glu214Asp	Somatic	276	4		WXS	Illumina GAIIx	Phase_I	237	13	NM_001010909	0	0	0	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192132	0.06299	.	.	ENSG00000204544	ENST00000376296	T	0.01787	4.64	3.54	-7.08	0.01558	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.43196	-0.9406	8	.	.	.	.	10.9515	0.47332	0.1259:0.5078:0.3663:0.0	.	214	Q5SSG8	MUC21_HUMAN	D	214	ENSP00000365473:E214D	.	E	+	3	2	MUC21	31062573	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.756000	0.04777	-2.750000	0.00375	-0.349000	0.07799	GAG	.		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954594	G	C	30954594	3	2	55	1	0	0	0	0	1	0	0	0	10015	1020	36	3	648	3	MUC21	6	30954594	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	4797672	30954594	140160473	54	11627											
HLA-DQA1	3117	bcgsc.ca	37	chr6	32609105	32609105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccacgttgcctcttGtggtgtaaacttgtaccagt	10	10	1	1	rs1129740	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:32609105G>A	ENST00000343139.5	+	2	203	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.C34Y|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.C34Y	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	34	Alpha-1.		Y -> C (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07; dbSNP:rs1129740).		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						GTTGCCTCTTGTGGTGTAAAC	0.473													.|||	2620	0.523163	0.503	0.6758	5008	,	,		16991	0.4623		0.5547	False		,,,				2504	0.4724				p.C34Y		.											.	HLA-DQA1-90	0			c.G101A						.	A	TYR/CYS	1866,2540		609,648,946	147	124	131		101	-0.3	0	6	dbSNP_86	131	3996,4590		1509,978,1806	yes	missense	HLA-DQA1	NM_002122.3	194	2118,1626,2752	AA,AG,GG		46.5409,42.3513,45.1201	benign	34/256	32609105	5862,7130	2203	4293	6496	SO:0001583	missense	3117	exon2			CCTCTTGTGGTGT		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.101G>A	6.37:g.32609105G>A	ENSP00000339398:p.Cys34Tyr	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	26	16	NM_002122	0	0	0	0	0	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	1155|1155	0.5288461538461539|0.5288461538461539	219|219	0.4451219512195122|0.4451219512195122	236|236	0.6519337016574586|0.6519337016574586	300|300	0.5244755244755245|0.5244755244755245	400|400	0.5277044854881267|0.5277044854881267	.|.	0.005|0.005	-2.227569|-2.227569	0.00280|0.00280	0.423513|0.423513	0.465409|0.465409	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00627|.	6.12;6.12;6.12;6.12|.	3.84|3.84	-0.275|-0.275	0.12906|0.12906	.|.	1.206650|.	0.05915|.	N|.	0.632490|.	T|T	0.00784|0.00784	0.0026|0.0026	N|N	0.00067|0.00067	-2.295|-2.295	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.16289|.	0.015;0.002|.	T|T	0.39035|0.39035	-0.9633|-0.9633	9|4	0.02654|.	T|.	1|.	.|.	1.0863|1.0863	0.01654|0.01654	0.4832:0.1399:0.1032:0.2736|0.4832:0.1399:0.1032:0.2736	rs1129740;rs1142321;rs3187980;rs3205982;rs9272689;rs12722045;rs17412265|rs1129740;rs1142321;rs3187980;rs3205982;rs9272689;rs12722045;rs17412265	40;34|.	Q59F33;G4XQK2|.	.;.|.	Y|M	34|7	ENSP00000339398:C34Y;ENSP00000378767:C34Y;ENSP00000437302:C34Y;ENSP00000364087:C34Y|.	ENSP00000339398:C34Y|.	C|V	+|+	2|1	0|0	HLA-DQA1|HLA-DQA1	32717083|32717083	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.118000|0.118000	0.15605|0.15605	-0.454000|-0.454000	0.07066|0.07066	-1.852000|-1.852000	0.00566|0.00566	TGT|GTG	G|0.446;A|0.554		0.473	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		A	32609105	G	A	32609105	3	1	55	1	0	0	0	0	1	0	0	0	7231	1377	48	3	107	3	HLA-DQA1	6	32609105	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1654511	32609105	138505962	55	11628											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	55	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	6672931	39282036	131833031	56	11629											
ENPP4	22875	broad.mit.edu	37	chr6	46107907	46107907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcaagtggccacaaatacgGacctgaagataaagaaaaca	9	8	0	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:46107907G>T	ENST00000321037.4	+	2	817	c.587G>T	c.(586-588)gGa>gTa	p.G196V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	196					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CACAAATACGGACCTGAAGAT	0.383																																					p.G196V		.											.	ENPP4-94	0			c.G587T						.						107	105	105					6																	46107907		2203	4300	6503	SO:0001583	missense	22875	exon2			AATACGGACCTGA	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.587G>T	6.37:g.46107907G>T	ENSP00000318066:p.Gly196Val	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	125	4	NM_014936	0	0	15	15	0	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355688	0.82243	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.81579	-1.51	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95244	0.8354	10	0.87932	D	0	-19.276	19.8579	0.96771	0.0:0.0:1.0:0.0	.	196	Q9Y6X5	ENPP4_HUMAN	V	196	ENSP00000318066:G196V	ENSP00000318066:G196V	G	+	2	0	ENPP4	46215866	1.000000	0.71417	0.852000	0.33557	0.885000	0.51271	9.438000	0.97539	2.687000	0.91594	0.655000	0.94253	GGA	.		0.383	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			T	46107907	G	T	46107907	3	4	55	1	0	0	0	0	1	0	0	0	5148	1174	41	3	589	3	ENPP4	6	46107907	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	6825871	46107907	125007160	57	11630											
POU3F2	5454	hgsc.bcm.edu	37	chr6	99283376	99283376	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcagccggccggTctgcaccaccacggcctgcg	16	18	1	0	rs195860	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4	4	4		627	3.1	1	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283376	T	G	99283376	2	3	55	1	0	0	0	0	0	0	0	1	12314	1654	58	5		5	POU3F2	6	99283376	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	53175469	99283376	71831691	58	11631											
ZDHHC14	79683	bcgsc.ca	37	chr6	158074629	158074629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccaatggcatcaccatGtacggggccacgcagtcaca	9	16	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr6:158074629G>A	ENST00000359775.5	+	8	1927	c.1038G>A	c.(1036-1038)atG>atA	p.M346I	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.M346I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	346					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCATCACCATGTACGGGGCCA	0.587																																					p.M346I		.											.	ZDHHC14-227	0			c.G1038A						.						74	65	68					6																	158074629		2203	4300	6503	SO:0001583	missense	79683	exon8			CACCATGTACGGG	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1038G>A	6.37:g.158074629G>A	ENSP00000352821:p.Met346Ile	Somatic	84	2		WXS	Illumina GAIIx	Phase_I	51	45	NM_024630	0	0	2	4	2	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532229	0.45073	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.42513	1.99;0.97	5.38	2.64	0.31445	.	1.200410	0.05931	N	0.635157	T	0.21227	0.0511	L	0.50333	1.59	0.51767	D	0.999931	B;B	0.28178	0.042;0.202	B;B	0.29862	0.015;0.108	T	0.41805	-0.9488	10	0.21014	T	0.42	-4.042	8.0886	0.30786	0.147:0.1309:0.7221:0.0	.	346;346	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	I	346;346;350	ENSP00000352821:M346I;ENSP00000410713:M346I	ENSP00000352821:M346I	M	+	3	0	ZDHHC14	157994617	1.000000	0.71417	0.991000	0.47740	0.937000	0.57800	2.422000	0.44696	2.043000	0.60533	0.460000	0.39030	ATG	.		0.587	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		A	158074629	G	A	158074629	3	1	55	1	0	0	0	0	1	0	0	0	17652	1377	48	3	1068	3	ZDHHC14	6	158074629	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	58791253	158074629	13040438	59	11632											
USP42	84132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6175530	6175530	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcacatattacccaggcactCagtaatcctggggacgttat	9	11	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:6175530C>G	ENST00000306177.5	+	4	659	c.501C>G	c.(499-501)ctC>ctG	p.L167L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	167	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCCAGGCACTCAGTAATCCTG	0.348																																					p.L167L		.											.	USP42-659	0			c.C501G						.						122	111	115					7																	6175530		1879	4123	6002	SO:0001819	synonymous_variant	84132	exon4			GGCACTCAGTAAT	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.501C>G	7.37:g.6175530C>G		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	195	34	NM_032172	0	0	2	2	0	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																			.		0.348	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		G	6175530	C	G	6175530	2	3	55	1	0	0	0	0	0	0	0	1	17122	813	29	3		3	USP42	7	6175530	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		6175530	152963133	60	11633											
GARS	2617	hgsc.bcm.edu	37	chr7	30634630	30634630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagcccgaccctcgctcctGctccgccggtccctcagcgc	9	21	1	0	rs2529438	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:30634630G>C	ENST00000389266.3	+	1	334	c.93G>C	c.(91-93)ctG>ctC	p.L31L	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	31					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)	CCTCGCTCCTGCTCCGCCGGT	0.741													G|||	705	0.140775	0.1218	0.0994	5008	,	,		12290	0.1776		0.0726	False		,,,				2504	0.228				p.L31L		.											.	GARS-91	0			c.G93C						.	G		360,3594		14,332,1631	6	8	7		93	2.7	0	7	dbSNP_100	7	669,7413		24,621,3396	no	coding-synonymous	GARS	NM_002047.2		38,953,5027	CC,CG,GG		8.2777,9.1047,8.5494		31/740	30634630	1029,11007	1977	4041	6018	SO:0001819	synonymous_variant	2617	exon1			GCTCCTGCTCCGC	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.93G>C	7.37:g.30634630G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_002047	0	0	0	48	48	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			G|0.889;C|0.111		0.741	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		C	30634630	G	C	30634630	2	2	55	1	0	0	0	0	0	0	0	1	6267	1306	46	3		3	GARS	7	30634630	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	24459100	30634630	128504033	61	11634											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_002047	0	0	0	36	36	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	55	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	31	30634661	128504002	62	11635											
ZMIZ2	83637	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	44802986	44802986	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatccagctccctgccCgaggtcatgactgtcgccac	11	16	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:44802986C>T	ENST00000309315.4	+	13	1957	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	ZMIZ2_ENST00000413916.1_Nonsense_Mutation_p.R554*|ZMIZ2_ENST00000441627.1_Nonsense_Mutation_p.R612*|ZMIZ2_ENST00000433667.1_Nonsense_Mutation_p.R580*|ZMIZ2_ENST00000265346.7_Nonsense_Mutation_p.R586*	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	612					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						GCTCCCTGCCCGAGGTCATGA	0.557																																					p.R612X	NSCLC(20;604 852 1948 16908 50522)	.											.	ZMIZ2-137	0			c.C1834T						.						95	104	101					7																	44802986		2193	4297	6490	SO:0001587	stop_gained	83637	exon13			CCTGCCCGAGGTC	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.1834C>T	7.37:g.44802986C>T	ENSP00000311778:p.Arg612*	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	299	41	NM_031449	0	0	50	54	4	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Nonsense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	38	7.130784	0.98085	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	.	.	.	4.82	3.93	0.45458	.	0.224065	0.28618	N	0.014720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1762	11.4094	0.49917	0.4919:0.5081:0.0:0.0	.	.	.	.	X	554;612;612;580;586;615	.	ENSP00000265346:R586X	R	+	1	2	ZMIZ2	44769511	0.997000	0.39634	0.976000	0.42696	0.949000	0.60115	1.745000	0.38278	1.255000	0.44051	0.555000	0.69702	CGA	.		0.557	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		T	44802986	C	T	44802986	4	4	55	1	0	0	0	0	0	1	0	0	17745	644	23	1	1880	1	ZMIZ2	7	44802986	Nonsense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	14168325	44802986	114335677	63	11636											
ELN	2006	broad.mit.edu	37	chr7	73466109	73466109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccggagtcctccctggtGttggaggggctggtgttcct	16	11	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:73466109G>T	ENST00000252034.7	+	16	1228	c.829G>T	c.(829-831)Gtt>Ttt	p.V277F	ELN_ENST00000380562.4_Missense_Mutation_p.V277F|ELN_ENST00000380576.5_Missense_Mutation_p.V277F|ELN_ENST00000429192.1_Missense_Mutation_p.V282F|ELN_ENST00000320399.6_Missense_Mutation_p.V277F|ELN_ENST00000320492.7_Missense_Mutation_p.V241F|ELN_ENST00000358929.4_Missense_Mutation_p.V277F|ELN_ENST00000458204.1_Missense_Mutation_p.V267F|ELN_ENST00000380553.4_Missense_Mutation_p.V160F|ELN_ENST00000357036.5_Missense_Mutation_p.V282F|ELN_ENST00000380584.4_Missense_Mutation_p.V263F|ELN_ENST00000414324.1_Missense_Mutation_p.V272F|ELN_ENST00000380575.4_Missense_Mutation_p.V267F|ELN_ENST00000445912.1_Missense_Mutation_p.V277F	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	277	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)				CCTCCCTGGTGTTGGAGGGGC	0.602			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V282F		.		Dom	yes		7	7q11.23	2006	elastin	yes	L	.	ELN-95	0			c.G844T						.						104	79	87					7																	73466109		2203	4300	6503	SO:0001583	missense	2006	exon16			CCTGGTGTTGGAG		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.829G>T	7.37:g.73466109G>T	ENSP00000252034:p.Val277Phe	Somatic	121	0	1145	WXS	Illumina GAIIx	Phase_I	129	3	NM_001081753	0	0	9	9	0	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	5.943	0.358054	0.11239	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;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;T;T	0.49139	1.28;1.26;1.3;1.06;0.79;0.81;1.37;1.26;1.34;1.34;1.26;1.3;1.32;1.15;1.35;1.26	4.61	1.64	0.23874	.	.	.	.	.	T	0.35885	0.0947	L	0.38175	1.15	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.48016	0.904;0.815;0.835;0.904;0.904;0.904;0.904;0.904;0.904;0.904;0.904;0.904;0.904;0.904	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42625	0.393;0.24;0.305;0.393;0.393;0.393;0.393;0.393;0.393;0.393;0.393;0.393;0.393;0.393	T	0.13656	-1.0501	9	0.48119	T	0.1	-7.4001	6.2858	0.21033	0.3658:0.0:0.6342:0.0	.	277;246;241;272;267;277;267;282;282;277;160;233;263;277	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	277;277;277;241;255;138;272;277;267;263;267;282;282;246;160;277;277	ENSP00000389857:V277F;ENSP00000252034:V277F;ENSP00000351807:V277F;ENSP00000315607:V241F;ENSP00000406949:V255F;ENSP00000389206:V138F;ENSP00000392575:V272F;ENSP00000369936:V277F;ENSP00000369949:V267F;ENSP00000369958:V263F;ENSP00000403162:V267F;ENSP00000349540:V282F;ENSP00000391129:V282F;ENSP00000369926:V160F;ENSP00000369950:V277F;ENSP00000313565:V277F	ENSP00000252034:V277F	V	+	1	0	ELN	73104045	0.015000	0.18098	0.044000	0.18714	0.074000	0.17049	0.587000	0.23909	0.090000	0.17273	-0.480000	0.04831	GTT	.		0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		T	73466109	G	T	73466109	3	4	55	1	0	0	0	0	1	0	0	0	5087	1377	48	3	906	3	ELN	7	73466109	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	28663123	73466109	85672554	64	11637											
FZD1	8321	hgsc.bcm.edu	37	chr7	90894459	90894460	+	In_Frame_Ins	INS	-	-	CCG													ggcccgggccggggcagcaaINSccgccgccgccgcctcagca					rs71292991|rs139480179	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:90894459_90894460insCCG	ENST00000287934.2	+	1	677_678	c.264_265insCCG	c.(265-267)ccg>CCGccg	p.89_89P>PP		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	89	Poly-Pro.				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)			cggggcAGCAACCGCCGCCGCC	0.743														1874	0.374201	0.4047	0.4625	5008	,	,		10872	0.2986		0.4294	False		,,,				2504	0.2914				p.Q88delinsQP		.											.	FZD1-658	3	Insertion - In frame(3)	breast(2)|liver(1)	c.264_265insCCG						.			1606,5,2563		359,2,886,0,3,837						0.6	1		dbSNP_134	11	3182,3,4959		703,0,1776,1,1,1591	no	codingComplex	FZD1	NM_003505.1		1062,2,2662,1,4,2428	A1A1,A1A2,A1R,A2A2,A2R,RR		39.1085,38.5961,38.9349				4788,8,7522				SO:0001652	inframe_insertion	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.274_276dupCCG	7.37:g.90894466_90894468dupCCG	ENSP00000287934:p.Pro93dup	Somatic	5	5		WXS	Illumina GAIIx	Phase_I	25	24	NM_003505	0	0	0	0	0	A4D1E8|O94815|Q549T8	In_Frame_Ins	INS	ENST00000287934.2	37	CCDS5620.1																																																																																			-|0.606;CCG|0.394		0.743	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		CCG	90894460	-	CCG	90894459	7	5	55	1	0	1	1	0	0	0	0	0	6152	40	2	0	266	0	FZD1	7	90894459	In_Frame_Ins	INS	-	TCGA-OR-A5LO-01A-11D-A29I-10	17428350	90894459	68244204	65	11638											
MCM7	4176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	99697290	99697290	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcctggcattctcacaAattgagtccaccaactcggg	9	13	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:99697290A>T	ENST00000303887.5	-	3	843	c.198T>A	c.(196-198)atT>atA	p.I66I	AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000354230.3_De_novo_Start_OutOfFrame|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Silent_p.I66I|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	66					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATTCTCACAAATTGAGTCCA	0.557																																					p.I66I		.											.	MCM7-651	0			c.T198A						.						144	137	140					7																	99697290		2203	4300	6503	SO:0001819	synonymous_variant	4176	exon3			CTCACAAATTGAG		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.198T>A	7.37:g.99697290A>T		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	38	6	NM_005916	0	0	15	23	8	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865243	0.32977	.	.	ENSG00000166508	ENST00000542483	.	.	.	4.5	0.838	0.18902	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42241	-0.9463	4	.	.	.	-0.6701	7.0721	0.25183	0.5972:0.0:0.4028:0.0	.	.	.	.	Y	9	.	.	F	-	2	0	MCM7	99535226	0.999000	0.42202	0.918000	0.36340	0.984000	0.73092	0.456000	0.21859	-0.011000	0.14247	0.455000	0.32223	TTT	.		0.557	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			T	99697290	A	T	99697290	2	4	55	1	0	0	0	0	0	0	0	1	9430	10	1	5		5	MCM7	7	99697290	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	8802831	99697290	59441373	66	11639											
MUC17	140453	broad.mit.edu	37	chr7	100677627	100677627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taccagcataccaacctcgaCtcctagtgaaggaacgactc	7	14	0	1	rs551784528	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:100677627C>G	ENST00000306151.4	+	3	2994	c.2930C>G	c.(2929-2931)aCt>aGt	p.T977S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	977	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)					CCAACCTCGACTCCTAGTGAA	0.512													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		34527	0		0	False		,,,				2504	0				p.T977S		.											.	MUC17-95	0			c.C2930G						.						355	331	339					7																	100677627		2203	4300	6503	SO:0001583	missense	140453	exon3			CCTCGACTCCTAG	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.2930C>G	7.37:g.100677627C>G	ENSP00000302716:p.Thr977Ser	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	227	4	NM_001040105	0	0	0	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653807	0.03480	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.73	-0.243	0.13035	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.30851	0.297	B	0.19148	0.024	T	0.45264	-0.9273	9	0.06365	T	0.9	.	5.173	0.15120	0.0:0.7617:0.0:0.2383	.	977	Q685J3	MUC17_HUMAN	S	977	ENSP00000302716:T977S	ENSP00000302716:T977S	T	+	2	0	MUC17	100464347	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.869000	0.04232	-0.074000	0.12820	-1.381000	0.01174	ACT	C|1.000;G|0.000		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100677627	C	G	100677627	3	3	55	1	0	0	0	0	1	0	0	0	10012	565	20	3	2940	3	MUC17	7	100677627	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	980337	100677627	58461036	67	11640											
TAS2R5	54429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141490447	141490447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggccagcttatggtttGccaccttcctcagtgtcttc	9	14	2	0	rs142196311		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:141490447G>T	ENST00000247883.4	+	1	431	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	96					chemosensory behavior (GO:0007635)|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)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CTTATGGTTTGCCACCTTCCT	0.507																																					p.A96S		.											.	TAS2R5-90	0			c.G286T						.						87	83	84					7																	141490447		2203	4300	6503	SO:0001583	missense	54429	exon1			TGGTTTGCCACCT	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.286G>T	7.37:g.141490447G>T	ENSP00000247883:p.Ala96Ser	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	118	31	NM_018980	0	0	0	0	0	Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699118	0.68501	.	.	ENSG00000127366	ENST00000247883	T	0.37411	1.2	4.24	2.37	0.29283	.	.	.	.	.	T	0.50137	0.1598	L	0.56199	1.76	0.24214	N	0.995462	D	0.89917	1.0	D	0.83275	0.996	T	0.22906	-1.0203	9	0.72032	D	0.01	.	6.647	0.22941	0.2275:0.0:0.7725:0.0	.	96	Q9NYW4	TA2R5_HUMAN	S	96	ENSP00000247883:A96S	ENSP00000247883:A96S	A	+	1	0	TAS2R5	141136916	0.779000	0.28652	0.997000	0.53966	0.943000	0.58893	0.813000	0.27225	1.005000	0.39183	0.561000	0.74099	GCC	G|1.000;A|0.000		0.507	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			T	141490447	G	T	141490447	3	4	55	1	0	0	0	0	1	0	0	0	15630	1319	46	3	288	3	TAS2R5	7	141490447	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	40812820	141490447	17648216	68	11641											
NOS3	4846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150696313	150696313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctgggcctgcgctggtAcgccctcccggcagtgtcca	13	17	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr7:150696313A>G	ENST00000484524.1	+	8	992	c.992A>G	c.(991-993)tAc>tGc	p.Y331C	NOS3_ENST00000297494.3_Missense_Mutation_p.Y331C|NOS3_ENST00000461406.1_Missense_Mutation_p.Y125C|NOS3_ENST00000467517.1_Missense_Mutation_p.Y331C	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)		CTGCGCTGGTACGCCCTCCCG	0.647																																					p.Y331C		.											.	NOS3-1011	0			c.A992G						.						60	67	64					7																	150696313		2201	4294	6495	SO:0001583	missense	4846	exon8			GCTGGTACGCCCT		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.992A>G	7.37:g.150696313A>G	ENSP00000420215:p.Tyr331Cys	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	65	36	NM_001160111	0	0	2	5	3	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	21.3	4.124114	0.77436	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33438	1.41;1.46;1.41;1.41	5.59	5.59	0.84812	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.56097	D	0.000040	T	0.63581	0.2523	M	0.91196	3.185	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;0.999;1.0;1.0;0.988	T	0.72523	-0.4267	10	0.87932	D	0	-17.7669	13.733	0.62799	1.0:0.0:0.0:0.0	.	331;331;331;125;331	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	C	331;125;331;331	ENSP00000297494:Y331C;ENSP00000417143:Y125C;ENSP00000420215:Y331C;ENSP00000420551:Y331C	ENSP00000297494:Y331C	Y	+	2	0	NOS3	150327246	1.000000	0.71417	0.976000	0.42696	0.897000	0.52465	9.339000	0.96797	2.119000	0.64992	0.520000	0.50463	TAC	.		0.647	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		G	150696313	A	G	150696313	3	3	55	1	0	0	0	0	1	0	0	0	10583	391	14	4	1022	4	NOS3	7	150696313	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	9205866	150696313	8442350	69	11642											
NEFL	4747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	24811264	24811264	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccactggttatgcttccCacgctggtgaaactgagtcg	11	11	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr8:24811264C>T	ENST00000221169.5	-	0	1809				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTATGCTTCCCACGCTGGTGA	0.542																																					p.V405V		.											.	NEFL-24	0			c.G1215A						.						34	39	37					8																	24811264		1966	4171	6137			4747	exon3			GCTTCCCACGCTG		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811264C>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	65	52	NM_006158	0	0	0	215	215	B9ZVN2|Q16154|Q8IU72	Silent	SNP	ENST00000221169.5	37																																																																																				.		0.542	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		T	24811264	C	T	24811264	1	4	55	0	1	0	0	0	0	0	0	0	10354	581	21	3		3	NEFL	8	24811264	RNA	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		24811264	121552758	70	11643											
GPR124	25960	hgsc.bcm.edu	37	chr8	37699516	37699516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtccagcgagagcggCagtctgcacaacagccccac	11	16	1	1	rs7010546	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr8:37699516C>T	ENST00000412232.2	+	19	3673	c.3660C>T	c.(3658-3660)ggC>ggT	p.G1220G	GPR124_ENST00000315215.7_Silent_p.G1003G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1220					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGAGAGCGGCAGTCTGCACA	0.746													C|||	2324	0.464058	0.3048	0.5144	5008	,	,		7503	0.6716		0.4165	False		,,,				2504	0.4785				p.G1220G		.											.	GPR124-157	0			c.C3660T						.	C		594,1854		106,382,736	2	3	2		3660	3.1	1	8	dbSNP_116	2	1524,3502		291,942,1280	no	coding-synonymous	GPR124	NM_032777.9		397,1324,2016	TT,TC,CC		30.3223,24.2647,28.3382		1220/1339	37699516	2118,5356	1224	2513	3737	SO:0001819	synonymous_variant	25960	exon19			GAGCGGCAGTCTG	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.3660C>T	8.37:g.37699516C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2	1050	0.4807692307692308	166	0.33739837398373984	169	0.46685082872928174	397	0.6940559440559441	318	0.41952506596306066	C	4.050	0.006880	0.07866	0.242647	0.303223	ENSG00000020181	ENST00000416514	.	.	.	3.95	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999997394	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-18.0593	4.3087	0.10960	0.1378:0.5532:0.2174:0.0916	rs7010546;rs59434562;rs7010546	.	.	.	X	1213	.	ENSP00000405145:Q1213X	Q	+	1	0	GPR124	37818674	0.843000	0.29541	1.000000	0.80357	0.388000	0.30384	-0.114000	0.10757	0.874000	0.35823	0.313000	0.20887	CAG	C|0.479;G|0.000;T|0.520		0.746	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37699516	C	T	37699516	2	4	55	1	0	0	0	0	0	0	0	1	6664	697	25	3		3	GPR124	8	37699516	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	12888252	37699516	108664506	71	11644											
OPRK1	4986	hgsc.bcm.edu	37	chr8	54163562	54163562	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcgcaggtagggccCggctccccgcggaagatctg	17	14	1	1	rs1051660	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6	9	8		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		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.36G>T	8.37:g.54163562C>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54163562	C	A	54163562	2	1	55	1	0	0	0	0	0	0	0	1	10924	639	23	2		2	OPRK1	8	54163562	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	16464046	54163562	92200460	72	11645											
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	69020559	69020559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaagaaaacaaatcttcGgagcaaggtatgctagcttt	9	6	1	1	rs570753617		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr8:69020559G>A	ENST00000288368.4	+	24	3208	c.2931G>A	c.(2929-2931)tcG>tcA	p.S977S		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	977					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						ACAAATCTTCGGAGCAAGGTA	0.363													G|||	1	0.000199681	0	0.0014	5008	,	,		20845	0		0	False		,,,				2504	0				p.S977S		.											.	PREX2-390	0			c.G2931A						.						82	81	81					8																	69020559		2203	4300	6503	SO:0001819	synonymous_variant	80243	exon24			ATCTTCGGAGCAA	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.2931G>A	8.37:g.69020559G>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	63	22	NM_024870	0	0	0	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	CCDS6201.1																																																																																			.		0.363	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69020559	G	A	69020559	2	1	55	1	0	0	0	0	0	0	0	1	12519	1103	39	1		1	PREX2	8	69020559	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	14856997	69020559	77343463	73	11646											
JRK	8629	bcgsc.ca	37	chr8	143746416	143746416	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcatgttgtagcgggcAtgggggccctgcagggggac	18	9	1	0	rs754957	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr8:143746416A>G	ENST00000507178.2	-	0	1394							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgtagcgggcatgggggccct	0.612													G|||	2671	0.533347	0.7209	0.3213	5008	,	,		18399	0.5188		0.3917	False		,,,				2504	0.591				p.H354H		.											.	.	0			c.T1062C						.	G	,	2462,1536		789,884,326	8	9	9		1062,1062	-0.7	0	8	dbSNP_86	9	3105,5209		657,1791,1709	yes	coding-synonymous,coding-synonymous	JRK	NM_001077527.1,NM_003724.2	,	1446,2675,2035	GG,GA,AA		37.3466,38.4192,45.216	,	354/557,354/569	143746416	5567,6745	1999	4157	6156			8629	exon2			GCGGGCATGGGGG	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746416A>G		Somatic	139	0		WXS	Illumina GAIIx	Phase_I	96	5	NM_003724	0	0	1	1	0	O75565	Silent	SNP	ENST00000507178.2	37																																																																																				A|0.477;G|0.523		0.612	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		G	143746416	A	G	143746416	1	3	55	0	1	0	0	0	0	0	0	0	7991	214	8	4		4	JRK	8	143746416	RNA	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	74725857	143746416	2617606	74	11647											
GNE	10020	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	36217454	36217454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgaaaccaccacatccacgtCctgcacggaggacaaggcct	9	16	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr9:36217454C>G	ENST00000539815.1	-	11	2117	c.2077G>C	c.(2077-2079)Gac>Cac	p.D693H	GNE_ENST00000396594.3_Missense_Mutation_p.D724H|GNE_ENST00000377902.5_Missense_Mutation_p.D693H|GNE_ENST00000539208.1_Missense_Mutation_p.D583H|GNE_ENST00000447283.2_Missense_Mutation_p.D619H|GNE_ENST00000543356.2_Missense_Mutation_p.D688H			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	693	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACATCCACGTCCTGCACGGAG	0.562																																					p.D724H	GBM(184;106 2118 20004 35750 50727)	.											.	GNE-115	0			c.G2170C						.						131	95	107					9																	36217454		2203	4300	6503	SO:0001583	missense	10020	exon12			CCACGTCCTGCAC	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2077G>C	9.37:g.36217454C>G	ENSP00000439155:p.Asp693His	Somatic	169	1		WXS	Illumina GAIIx	Phase_I	140	50	NM_001128227	0	0	20	31	11	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836207	0.50951	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99578	-4.83;-4.83;-4.83;-4.83;-6.21	5.67	4.67	0.58626	.	0.363482	0.33631	N	0.004709	D	0.97371	0.9140	N	0.21373	0.66	0.31358	N	0.681689	B;B;B;B;B	0.29862	0.002;0.259;0.259;0.053;0.119	B;B;B;B;B	0.28139	0.002;0.086;0.086;0.039;0.07	D	0.95688	0.8738	10	0.56958	D	0.05	-6.8645	5.2737	0.15638	0.0:0.7647:0.0:0.2353	.	583;652;724;693;619	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	H	693;724;688;693;665;583;619	ENSP00000367134:D693H;ENSP00000379839:D724H;ENSP00000439155:D693H;ENSP00000445117:D583H;ENSP00000414760:D619H	ENSP00000340770:D688H	D	-	1	0	GNE	36207454	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.884000	0.48562	2.681000	0.91329	0.561000	0.74099	GAC	.		0.562	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		G	36217454	C	G	36217454	3	3	55	1	0	0	0	0	1	0	0	0	6548	855	30	3	95	3	GNE	9	36217454	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		36217454	104995977	75	11648											
KIAA1958	158405	ucsc.edu;bcgsc.ca	37	chr9	115421992	115421992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctactttgcccggacGgacagcgtcaagcgggagag	14	13	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr9:115421992G>A	ENST00000337530.6	+	4	2090	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	KIAA1958_ENST00000536272.1_Silent_p.T626T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	598										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TTGCCCGGACGGACAGCGTCA	0.582																																					p.T598T		.											.	KIAA1958-91	0			c.G1794A						.						69	67	68					9																	115421992		2203	4300	6503	SO:0001819	synonymous_variant	158405	exon4			CCGGACGGACAGC	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.1794G>A	9.37:g.115421992G>A		Somatic	194	2		WXS	Illumina GAIIx	Phase_I	165	75	NM_133465	0	0	3	5	2	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																			.		0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		A	115421992	G	A	115421992	2	1	55	1	0	0	0	0	0	0	0	1	8291	1103	39	1		1	KIAA1958	9	115421992	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	79204538	115421992	25791439	76	11649											
GPSM1	26086	broad.mit.edu	37	chr9	139244081	139244081	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attcaggggactggcgggggCccagcagggactcgctaccc	16	13	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr9:139244081C>G	ENST00000440944.1	+	11	1541	c.1321C>G	c.(1321-1323)Ccc>Gcc	p.P441A		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	441	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CTGGCGGGGGCCCAGCAGGGA	0.672																																					p.P441A		.											.	GPSM1-90	0			c.C1321G						.						10	8	9					9																	139244081		1912	3854	5766	SO:0001583	missense	26086	exon11			CGGGGGCCCAGCA	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1321C>G	9.37:g.139244081C>G	ENSP00000392828:p.Pro441Ala	Somatic	149	10		WXS	Illumina GAIIx	Phase_I	116	16	NM_001145638	0	0	1	1	0	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	4.392	0.072409	0.08436	.	.	ENSG00000160360	ENST00000440944;ENST00000354753	D;D	0.89617	-2.54;-2.54	4.62	1.4	0.22301	.	1.757100	0.02738	N	0.115901	T	0.77928	0.4204	N	0.14661	0.345	0.26310	N	0.977848	B	0.02656	0.0	B	0.01281	0.0	T	0.65286	-0.6205	10	0.24483	T	0.36	-16.6286	2.1338	0.03756	0.3465:0.3824:0.1686:0.1024	.	441	Q86YR5	GPSM1_HUMAN	A	441;418	ENSP00000392828:P441A;ENSP00000346797:P418A	ENSP00000346797:P418A	P	+	1	0	GPSM1	138363902	0.000000	0.05858	0.666000	0.29783	0.999000	0.98932	0.230000	0.17852	0.998000	0.38996	0.655000	0.94253	CCC	.		0.672	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		G	139244081	C	G	139244081	3	3	55	1	0	0	0	0	1	0	0	0	6761	739	26	3	1530	3	GPSM1	9	139244081	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	23822089	139244081	1969350	77	11650											
NOXA1	10811	hgsc.bcm.edu	37	chr9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctctctgggggaCctggtgcgcgcctggcacct	15	15	1	0	rs112864733	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000340951.4_5'Flank|EXD3_ENST00000475006.1_5'Flank|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000342129.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|EXD3_ENST00000479452.1_5'Flank	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4	5	5		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			G	140317999	C	G	140317999	3	3	55	1	0	0	0	0	1	0	0	0	10599	506	18	3	20	3	NOXA1	9	140317999	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	1073918	140317999	895432	78	11651											
C10orf18	54906	hgsc.bcm.edu	37	chr10	5773063	5773063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaaaggtgaacttgtgCcgcccctttcccaaaagaac	8	11	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:5773063C>T	ENST00000328090.5	+	11	1726	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	367																	TGAACTTGTGCCGCCCCTTTC	0.468																																					p.C367C		.											.	.	0			c.C1101T						.						51	52	52					10																	5773063		2004	4152	6156	SO:0001819	synonymous_variant	54906	exon11			CTTGTGCCGCCCC	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.1101C>T	10.37:g.5773063C>T		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_017782	0	0	7	7	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	4.275	0.050130	0.08243	.	.	ENSG00000108021	ENST00000380270	.	.	.	5.78	4.79	0.61399	.	.	.	.	.	T	0.63908	0.2551	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62258	-0.6892	4	.	.	.	.	12.4442	0.55641	0.0:0.9156:0.0:0.0844	.	.	.	.	S	147	.	.	P	+	1	0	C10orf18	5813069	0.000000	0.05858	0.935000	0.37517	0.398000	0.30690	0.168000	0.16622	1.291000	0.44653	0.555000	0.69702	CCG	.		0.468	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5773063	C	T	5773063	2	4	55	1	0	0	0	0	0	0	0	1	1601	747	26	3		3	C10orf18	10	5773063	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		5773063	129761684	79	11652											
TAF3	83860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	8006163	8006163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccaccaatgctttctccAgtccatgtacaggacagtac	6	14	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:8006163A>G	ENST00000344293.5	+	3	896	c.690A>G	c.(688-690)ccA>ccG	p.P230P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	230					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)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGCTTTCTCCAGTCCATGTAC	0.468																																					p.P230P		.											.	TAF3-69	0			c.A690G						.						85	85	85					10																	8006163		1948	4143	6091	SO:0001819	synonymous_variant	83860	exon3			TTCTCCAGTCCAT	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.690A>G	10.37:g.8006163A>G		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	222	44	NM_031923	0	0	10	11	1	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	CCDS41487.1																																																																																			.		0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		G	8006163	A	G	8006163	2	3	55	1	0	0	0	0	0	0	0	1	15572	175	7	4		4	TAF3	10	8006163	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	2233100	8006163	127528584	80	11653											
ARHGAP21	57584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	24909959	24909959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacctgtatggttgtTtctattggataacaaatcta	9	5	2	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:24909959T>C	ENST00000396432.2	-	9	1351	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.N76D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	288					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						GTATGGTTGTTTCTATTGGAT	0.408																																					p.N289D		.											.	ARHGAP21-235	0			c.A865G						.						125	112	116					10																	24909959		2203	4300	6503	SO:0001583	missense	57584	exon9			GGTTGTTTCTATT	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.865A>G	10.37:g.24909959T>C	ENSP00000379709:p.Asn289Asp	Somatic	285	0		WXS	Illumina GAIIx	Phase_I	429	93	NM_020824	0	0	2	3	1	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945911	0.34377	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.45276	2.85;2.96;0.9;0.9	5.35	4.19	0.49359	.	0.548840	0.21758	N	0.069573	T	0.35566	0.0936	L	0.51422	1.61	0.25817	N	0.984328	B;B	0.30511	0.218;0.282	B;B	0.23574	0.047;0.021	T	0.22452	-1.0216	10	0.46703	T	0.11	.	11.5495	0.50713	0.0:0.0712:0.0:0.9288	.	279;288	F8W9U9;Q5T5U3	.;RHG21_HUMAN	D	289;278;76;279;289;124	ENSP00000379709:N289D;ENSP00000365604:N76D;ENSP00000365592:N279D;ENSP00000405018:N289D	ENSP00000365604:N76D	N	-	1	0	ARHGAP21	24949965	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	2.914000	0.48797	0.953000	0.37825	0.528000	0.53228	AAC	.		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24909959	T	C	24909959	3	2	55	1	0	0	0	0	1	0	0	0	871	1841	64	4	5083	4	ARHGAP21	10	24909959	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	16903796	24909959	110624788	81	11654											
ZEB1	6935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	31810238	31810238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatatccctgccaagaacAatgatcagcctcaatctgca	5	12	3	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:31810238A>C	ENST00000320985.10	+	7	2085	c.1975A>C	c.(1975-1977)Aat>Cat	p.N659H	ZEB1_ENST00000560721.2_Missense_Mutation_p.N639H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.N660H|ZEB1_ENST00000446923.2_Missense_Mutation_p.N643H|ZEB1_ENST00000542815.3_Missense_Mutation_p.N592H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	659					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)				TGCCAAGAACAATGATCAGCC	0.428																																					p.N660H	Ovarian(40;423 959 14296 36701 49589)	.											.	ZEB1-518	0			c.A1978C						.						79	71	74					10																	31810238		2203	4300	6503	SO:0001583	missense	6935	exon7			AAGAACAATGATC	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.1975A>C	10.37:g.31810238A>C	ENSP00000319248:p.Asn659His	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	145	45	NM_001174096	0	0	5	6	1	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	4.648	0.120500	0.08881	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12569	2.99;2.68;2.72;2.67;2.72	5.34	-0.146	0.13432	.	1.262630	0.05488	N	0.556097	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	B;B;P;B;B;B;P;B	0.35600	0.419;0.249;0.511;0.328;0.291;0.294;0.511;0.328	P;B;B;B;B;B;B;B	0.46110	0.504;0.115;0.135;0.087;0.054;0.308;0.087;0.087	T	0.46512	-0.9186	10	0.19590	T	0.45	-0.0419	9.8506	0.41055	0.4674:0.0:0.5326:0.0	.	592;659;643;659;659;639;660;659	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	441;659;660;659;592;659;639;518;550;643	ENSP00000444282:N441H;ENSP00000354487:N660H;ENSP00000444891:N592H;ENSP00000319248:N659H;ENSP00000391612:N643H	ENSP00000319248:N659H	N	+	1	0	ZEB1	31850244	0.000000	0.05858	0.001000	0.08648	0.746000	0.42486	-0.069000	0.11542	0.016000	0.14998	-0.242000	0.12053	AAT	.		0.428	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		C	31810238	A	C	31810238	3	2	55	1	0	0	0	0	1	0	0	0	17671	130	5	5	2015	5	ZEB1	10	31810238	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	6900279	31810238	103724509	82	11655											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	11	NM_024886	0	0	1	2	1	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	55	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	72400497	104210735	31324012	83	11656											
NEURL	9148	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	105330702	105330702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcactgtccggcagtgctGcccagcggggggctcccagc	15	15	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:105330702G>T	ENST00000369780.4	+	2	568	c.159G>T	c.(157-159)ctG>ctT	p.L53L	NEURL_ENST00000369777.2_Silent_p.L36L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		53					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGGCAGTGCTGCCCAGCGGGG	0.647																																					p.L53L		.											.	NEURL-226	0			c.G159T						.						79	93	88					10																	105330702		2203	4300	6503	SO:0001819	synonymous_variant	9148	exon2			AGTGCTGCCCAGC																												ENST00000369780.4:c.159G>T	10.37:g.105330702G>T		Somatic	221	1		WXS	Illumina GAIIx	Phase_I	210	55	NM_004210	0	0	2	2	0	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	CCDS7551.1																																																																																			.		0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			T	105330702	G	T	105330702	2	4	55	1	0	0	0	0	0	0	0	1	10384	1306	46	3		3	NEURL	10	105330702	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1119967	105330702	30204045	84	11657											
ADRB1	153	hgsc.bcm.edu	37	chr10	115804008	115804008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcccgcgtcgccgccCgcctcgttgctgcctcccgc	12	21	0	0	rs371084372	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:115804008C>T	ENST00000369295.2	+	1	203	c.117C>T	c.(115-117)ccC>ccT	p.P39P		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	39					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CGTCGCCGCCCGCCTCGTTGC	0.741													C|||	2	0.000399361	0	0.0029	5008	,	,		8204	0		0	False		,,,				2504	0				p.P39P		.											.	ADRB1-658	0			c.C117T						.	C		0,3832		0,0,1916	4	4	4		117	4.4	0.2	10		4	12,7610		0,12,3799	no	coding-synonymous	ADRB1	NM_000684.2		0,12,5715	TT,TC,CC		0.1574,0.0,0.1048		39/478	115804008	12,11442	1916	3811	5727	SO:0001819	synonymous_variant	153	exon1			GCCGCCCGCCTCG	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.117C>T	10.37:g.115804008C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_000684	0	0	0	0	0	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	CCDS7586.1																																																																																			.		0.741	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			T	115804008	C	T	115804008	2	4	55	1	0	0	0	0	0	0	0	1	340	639	23	1		1	ADRB1	10	115804008	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	10473306	115804008	19730739	85	11658											
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	118307963	118307963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatggattcatagacaaggGagaagaaaactggctggcca	12	7	2	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:118307963G>A	ENST00000369221.2	+	4	321	c.293G>A	c.(292-294)gGa>gAa	p.G98E	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	98					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ATAGACAAGGGAGAAGAAAAC	0.413																																					p.G98E		.											.	PNLIP-92	0			c.G293A						.						130	126	127					10																	118307963		2203	4300	6503	SO:0001583	missense	5406	exon4			ACAAGGGAGAAGA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.293G>A	10.37:g.118307963G>A	ENSP00000358223:p.Gly98Glu	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	131	31	NM_000936	0	0	0	0	0	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926702	0.73327	.	.	ENSG00000175535	ENST00000369221	D	0.91068	-2.78	5.39	5.39	0.77823	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.93923	0.8055	M	0.81112	2.525	0.58432	D	0.999997	D	0.65815	0.995	P	0.59221	0.854	D	0.93964	0.7243	10	0.72032	D	0.01	.	12.063	0.53572	0.0818:0.0:0.9182:0.0	.	98	P16233	LIPP_HUMAN	E	98	ENSP00000358223:G98E	ENSP00000358223:G98E	G	+	2	0	PNLIP	118297953	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.537000	0.53590	2.814000	0.96858	0.585000	0.79938	GGA	.		0.413	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		A	118307963	G	A	118307963	3	1	55	1	0	0	0	0	1	0	0	0	12188	1174	41	3	303	3	PNLIP	10	118307963	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	2503955	118307963	17226784	86	11659											
BTBD16	118663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	124089066	124089066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcttcctctgcttgcGtctgcacggcatcaccaaag	9	16	4	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:124089066G>A	ENST00000260723.4	+	11	1234	c.983G>A	c.(982-984)cGt>cAt	p.R328H	BTBD16_ENST00000368994.2_Missense_Mutation_p.R329H	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	328										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)				CTCTGCTTGCGTCTGCACGGC	0.602																																					p.R328H		.											.	BTBD16-91	0			c.G983A						.						125	109	115					10																	124089066		2203	4300	6503	SO:0001583	missense	118663	exon11			GCTTGCGTCTGCA	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.983G>A	10.37:g.124089066G>A	ENSP00000260723:p.Arg328His	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	71	28	NM_144587	0	0	1	1	0	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590001	0.46214	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.53206	0.63;0.64	5.77	4.83	0.62350	.	0.085303	0.46442	N	0.000295	T	0.64227	0.2579	M	0.67953	2.075	0.46113	D	0.998875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66783	-0.5836	10	0.87932	D	0	-8.884	9.8685	0.41160	0.1:0.0:0.9:0.0	.	329;328	Q32M84-2;Q32M84	.;BTBDG_HUMAN	H	328;329	ENSP00000260723:R328H;ENSP00000357990:R329H	ENSP00000260723:R328H	R	+	2	0	BTBD16	124079056	1.000000	0.71417	0.617000	0.29091	0.002000	0.02628	3.350000	0.52224	1.347000	0.45714	-0.345000	0.07892	CGT	.		0.602	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		A	124089066	G	A	124089066	3	1	55	1	0	0	0	0	1	0	0	0	1545	1145	40	1	1021	1	BTBD16	10	124089066	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	5781103	124089066	11445681	87	11660											
EBF3	253738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	131639127	131639127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtagggagagttagcGgaggagccattaagaaatcc	14	8	0	2	rs369433267		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:131639127G>A	ENST00000355311.5	-	14	1614	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Silent_p.S505S			Q9H4W6	COE3_HUMAN	early B-cell factor 3	514	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAGAGTTAGCGGAGGAGCCAT	0.502																																					p.S505S		.											.	EBF3-91	0			c.C1515T						.	G		1,4405	2.1+/-5.4	0,1,2202	104	103	104		1515	2.9	1	10		104	0,8600		0,0,4300	no	coding-synonymous	EBF3	NM_001005463.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		505/552	131639127	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253738	exon14			GTTAGCGGAGGAG		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1542C>T	10.37:g.131639127G>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	64	15	NM_001005463	0	0	0	0	0	A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	7.774	0.708137	0.15239	2.27E-4	0.0	ENSG00000108001	ENST00000440978	.	.	.	4.89	2.88	0.33553	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37407	-0.9707	4	.	.	.	-19.6946	2.8604	0.05585	0.0978:0.1284:0.507:0.2668	.	.	.	.	C	76	.	.	R	-	1	0	EBF3	131529117	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.026000	0.30103	1.276000	0.44395	0.655000	0.94253	CGC	.		0.502	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131639127	G	A	131639127	2	1	55	1	0	0	0	0	0	0	0	1	4896	1103	39	1		1	EBF3	10	131639127	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	7550061	131639127	3895620	88	11661											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC													tgagccgatcccacctggagTtgcttccgggggcctcaggc					rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D|KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		AC	135012430	TT	AC	135012429	3	1	55	1	0	0	0	0	1	0	0	0	8453	1725	60	5	2471	5	KNDC1	10	135012429	Missense_Mutation	DNP	TT	TCGA-OR-A5LO-01A-11D-A29I-10	3373302	135012429	522318	89	11662											
MUC2	4583	bcgsc.ca	37	chr11	1092973	1092973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaccccaaccccaacaCccaccggcacacagacccca	6	22	0	2	rs55847666		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:1092973C>T	ENST00000441003.2	+	30	4819	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1598S(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aaccccaacacccaccggcac	0.637																																					p.P1598S		.											.	MUC2-90	1	Substitution - Missense(1)	endometrium(1)	c.C4792T						.						47	83	70					11																	1092973		1782	3238	5020	SO:0001583	missense	4583	exon30			CCAACACCCACCG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4792C>T	11.37:g.1092973C>T	ENSP00000415183:p.Pro1598Ser	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	77	6	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.622	-0.077443	0.07184	.	.	ENSG00000198788	ENST00000441003	T	0.13778	2.56	1.75	-2.88	0.05682	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43686	-0.9376	8	0.07482	T	0.82	.	3.4241	0.07403	0.4105:0.429:0.0:0.1605	rs55847666	1598	E7EUV1	.	S	1598	ENSP00000415183:P1598S	ENSP00000415183:P1598S	P	+	1	0	MUC2	1082973	0.007000	0.16637	0.000000	0.03702	0.120000	0.20174	0.230000	0.17852	-0.314000	0.08716	0.121000	0.15741	CCC	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092973	C	T	1092973	3	4	55	1	0	0	0	0	1	0	0	0	10013	507	18	3	4910	3	MUC2	11	1092973	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		1092973	133913543	90	11663											
MUC5B	727897	bcgsc.ca	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	30	1		WXS	Illumina GAIIx	Phase_I	80	11	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	55	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	161007	1253980	133752536	91	11664											
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000535046.1_3'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_138567	0	0	0	1	1	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	55	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	604592	1858572	133147944	92	11665											
WT1	7490	hgsc.bcm.edu	37	chr11	32456694	32456694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagcccatttgctgCggctcagacccggacgcccc	12	17	1	1	rs2234582	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1_ENST00000448076.3_Silent_p.P66P|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000395900.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2	3	3		198,198,198	1.2	0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456694	C	A	32456694	2	1	55	1	0	0	0	0	0	0	0	1	17457	755	27	2		2	WT1	11	32456694	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	30598122	32456694	102549822	93	11666											
LRRC4C	57689	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	40136210	40136210	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcttgtagaaaatgaCcagcatcactgcagccatga	7	12	3	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:40136210C>G	ENST00000278198.2	-	2	3596	c.1633G>C	c.(1633-1635)Gtc>Ctc	p.V545L	LRRC4C_ENST00000528697.1_Missense_Mutation_p.V545L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V545L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V545L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	545					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAGAAAATGACCAGCATCACT	0.443																																					p.V545L		.											.	LRRC4C-521	0			c.G1633C						.						148	133	138					11																	40136210		2203	4300	6503	SO:0001583	missense	57689	exon7			AAATGACCAGCAT	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1633G>C	11.37:g.40136210C>G	ENSP00000278198:p.Val545Leu	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	143	11	NM_001258419	0	0	6	6	0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916410	0.33815	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.99	5.99	0.97316	.	0.056765	0.64402	D	0.000001	T	0.32615	0.0835	L	0.42245	1.32	0.47862	D	0.999531	B	0.12013	0.005	B	0.21360	0.034	T	0.02909	-1.1095	10	0.46703	T	0.11	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	545	Q9HCJ2	LRC4C_HUMAN	L	545	ENSP00000278198:V545L;ENSP00000436976:V545L;ENSP00000437132:V545L;ENSP00000434761:V545L	ENSP00000278198:V545L	V	-	1	0	LRRC4C	40092786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.742000	0.62103	2.840000	0.97914	0.655000	0.94253	GTC	.		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		G	40136210	C	G	40136210	3	3	55	1	0	0	0	0	1	0	0	0	9043	507	18	3	293	3	LRRC4C	11	40136210	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	7679516	40136210	94870306	94	11667											
FOLH1	2346	bcgsc.ca	37	chr11	49204732	49204732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcatcatagtatccaaTtggatgaacaggaatacttg	9	7	1	1	rs199782232		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:49204732T>C	ENST00000256999.2	-	7	1149	c.889A>G	c.(889-891)Att>Gtt	p.I297V	FOLH1_ENST00000340334.7_Missense_Mutation_p.I282V|FOLH1_ENST00000533034.1_Missense_Mutation_p.I282V|FOLH1_ENST00000356696.3_Missense_Mutation_p.I297V|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	297	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TAGTATCCAATTGGATGAACA	0.363																																					p.I297V		.											.	FOLH1-579	0			c.A889G						.						78	79	78					11																	49204732		2201	4298	6499	SO:0001583	missense	2346	exon7			ATCCAATTGGATG	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.889A>G	11.37:g.49204732T>C	ENSP00000256999:p.Ile297Val	Somatic	145	1		WXS	Illumina GAIIx	Phase_I	114	6	NM_004476	0	0	5	5	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.025	0.559465	0.13436	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.76	1.59	0.23543	.	0.125811	0.35349	N	0.003276	T	0.50582	0.1624	M	0.78344	2.41	0.80722	D	1	B;B;B;B	0.20459	0.007;0.001;0.045;0.02	B;B;B;B	0.28139	0.046;0.018;0.086;0.035	T	0.47355	-0.9124	10	0.54805	T	0.06	.	6.1691	0.20406	0.0:0.1358:0.0:0.8642	.	282;282;297;297	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	297;297;282;282;297	ENSP00000256999:I297V;ENSP00000349129:I297V;ENSP00000344131:I282V;ENSP00000431463:I282V	ENSP00000256999:I297V	I	-	1	0	FOLH1	49161308	1.000000	0.71417	0.994000	0.49952	0.146000	0.21551	3.347000	0.52200	0.301000	0.22738	0.163000	0.16589	ATT	.		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		C	49204732	T	C	49204732	3	2	55	1	0	0	0	0	1	0	0	0	6001	1493	52	4	1415	4	FOLH1	11	49204732	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	9068522	49204732	85801784	95	11668											
FOLH1	2346	ucsc.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagcctctgcaattccaCgcctataagcatattctgaa	5	13	2	1	rs116795343	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																					p.R281H		.											.	FOLH1-579	1	Substitution - Missense(1)	lung(1)	c.G842A						.						72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	2346	exon7			ATTCCACGCCTAT	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His	Somatic	120	4		WXS	Illumina GAIIx	Phase_I	93	14	NM_004476	0	0	5	5	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	C|0.974;T|0.026		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49204779	C	T	49204779	3	4	55	1	0	0	0	0	1	0	0	0	6001	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	47	49204779	85801737	96	11669											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_003273	1	0	1	252	250	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	55	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	15675311	64880090	70126426	97	11670											
PPME1	51400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73957234	73957234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagttgtcccattcctaaAttgctgctcttggctggtaa	8	10	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr11:73957234A>G	ENST00000328257.8	+	10	1271	c.948A>G	c.(946-948)aaA>aaG	p.K316K	PPME1_ENST00000398427.4_Silent_p.K330K|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000543525.1_Silent_p.K129K			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	316					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CCATTCCTAAATTGCTGCTCT	0.408																																					p.K330K		.											.	.	0			c.A990G						.						74	72	72					11																	73957234		1796	3906	5702	SO:0001819	synonymous_variant	51400	exon10			TCCTAAATTGCTG		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.948A>G	11.37:g.73957234A>G		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	66	63	NM_001271593	0	0	0	22	22	B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Silent	SNP	ENST00000328257.8	37	CCDS44678.1																																																																																			.		0.408	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		G	73957234	A	G	73957234	2	3	55	1	0	0	0	0	0	0	0	1	12389	98	4	4		4	PPME1	11	73957234	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	9077144	73957234	61049282	98	11671											
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7531782	7531782	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaacaacttcagcaatgttCattccccagccattagcaca	4	14	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:7531782C>A	ENST00000313599.3	-	9	2220	c.2163G>T	c.(2161-2163)atG>atT	p.M721I	CD163L1_ENST00000396630.1_Missense_Mutation_p.M721I|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.M731I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	721	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCAATGTTCATTCCCCAGC	0.488																																					p.M721I		.											.	CD163L1-100	0			c.G2163T						.						130	102	111					12																	7531782		2203	4300	6503	SO:0001583	missense	283316	exon9			AATGTTCATTCCC	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.2163G>T	12.37:g.7531782C>A	ENSP00000315945:p.Met721Ile	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	141	28	NM_174941	0	0	1	1	0	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	3.499	-0.102274	0.06967	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34275	1.37;1.37;1.37	2.69	1.75	0.24633	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.329040	0.05696	N	0.593129	T	0.23806	0.0576	N	0.12663	0.25	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.29088	-1.0023	10	0.31617	T	0.26	.	10.8589	0.46815	0.0:0.8776:0.0:0.1224	.	731;721	E7EVK4;Q9NR16	.;C163B_HUMAN	I	721;731;721	ENSP00000315945:M721I;ENSP00000393474:M731I;ENSP00000379871:M721I	ENSP00000315945:M721I	M	-	3	0	CD163L1	7423049	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.170000	0.09897	0.006000	0.14734	-1.644000	0.00765	ATG	.		0.488	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7531782	C	A	7531782	3	1	55	1	0	0	0	0	1	0	0	0	2975	826	29	3	2242	3	CD163L1	12	7531782	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		7531782	126320113	99	11672											
WBP11	51729	broad.mit.edu	37	chr12	14941906	14941906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgcagggggaggtaGccttggtgggggtccacgag	22	6	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:14941906G>T	ENST00000261167.2	-	11	1704	c.1471C>A	c.(1471-1473)Cta>Ata	p.L491I		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	491	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGGGGAGGTAGCCTTGGTGGG	0.542																																					p.L491I		.											.	WBP11-92	0			c.C1471A						.						13	16	15					12																	14941906		2203	4295	6498	SO:0001583	missense	51729	exon11			GAGGTAGCCTTGG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1471C>A	12.37:g.14941906G>T	ENSP00000261167:p.Leu491Ile	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	117	4	NM_016312	0	0	90	90	0	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363341	0.41902	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.90004	-2.6	4.68	3.77	0.43336	.	0.000000	0.64402	D	0.000003	D	0.91825	0.7413	M	0.64997	1.995	0.47737	D	0.999509	D	0.63880	0.993	D	0.67548	0.952	D	0.91037	0.4868	10	0.49607	T	0.09	-13.3668	10.9246	0.47184	0.0947:0.0:0.9053:0.0	.	491	Q9Y2W2	WBP11_HUMAN	I	491;457	ENSP00000442868:L457I	ENSP00000261167:L491I	L	-	1	2	WBP11	14833173	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.560000	0.53763	2.442000	0.82660	0.585000	0.79938	CTA	.		0.542	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		T	14941906	G	T	14941906	3	4	55	1	0	0	0	0	1	0	0	0	17307	962	34	3	462	3	WBP11	12	14941906	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	7410124	14941906	118909989	100	11673											
EPS8	2059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	15823815	15823815	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacggtattgagatatatctGacacactgctgacactgtcc	8	11	1	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:15823815G>A	ENST00000281172.5	-	4	615	c.179C>T	c.(178-180)tCa>tTa	p.S60L	EPS8_ENST00000543612.1_Missense_Mutation_p.S60L|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.S60L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	60					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGATATATCTGACACACTGCT	0.363																																					p.S60L		.											.	EPS8-94	0			c.C179T						.						171	154	160					12																	15823815		2203	4300	6503	SO:0001583	missense	2059	exon4			ATATCTGACACAC	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.179C>T	12.37:g.15823815G>A	ENSP00000281172:p.Ser60Leu	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	120	32	NM_004447	0	0	3	3	0	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201234	0.79015	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752;ENST00000543363;ENST00000536793;ENST00000544064	T;T;T;T;T	0.47528	3.28;3.28;3.28;0.85;0.84	5.04	5.04	0.67666	Phosphotyrosine interaction domain (1);	0.064059	0.64402	D	0.000005	T	0.46014	0.1371	L	0.59436	1.845	0.80722	D	1	P	0.37864	0.61	B	0.33521	0.165	T	0.46105	-0.9215	10	0.37606	T	0.19	-16.9535	18.9408	0.92604	0.0:0.0:1.0:0.0	.	60	Q12929	EPS8_HUMAN	L	60	ENSP00000441867:S60L;ENSP00000281172:S60L;ENSP00000442388:S60L;ENSP00000445235:S60L;ENSP00000440591:S60L	ENSP00000281172:S60L	S	-	2	0	EPS8	15715082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.118000	0.77137	2.785000	0.95823	0.655000	0.94253	TCA	.		0.363	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			A	15823815	G	A	15823815	3	1	55	1	0	0	0	0	1	0	0	0	5210	1294	45	3	2361	3	EPS8	12	15823815	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	881909	15823815	118028080	101	11674											
KRT72	140807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52980754	52980754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcacagaatttggatattCgccagacatcctgaagaagg	10	9	1	4			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:52980754C>T	ENST00000537672.2	-	8	1331	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	KRT72_ENST00000398066.3_Missense_Mutation_p.E253K|KRT72_ENST00000293745.2_Missense_Mutation_p.E441K|KRT72_ENST00000354310.4_Missense_Mutation_p.E399K	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	441	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTTGGATATTCGCCAGACATC	0.453																																					p.E441K		.											.	KRT72-96	0			c.G1321A						.						116	104	108					12																	52980754		2203	4300	6503	SO:0001583	missense	140807	exon8			GATATTCGCCAGA	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1321G>A	12.37:g.52980754C>T	ENSP00000441160:p.Glu441Lys	Somatic	185	0		WXS	Illumina GAIIx	Phase_I	242	50	NM_001146225	0	0	0	0	0	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766583	0.69878	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.83673	-1.69;-1.69;-1.75;-1.36	4.44	4.44	0.53790	.	0.114504	0.38720	N	0.001584	D	0.84174	0.5414	M	0.65975	2.015	0.35204	D	0.774539	D;D	0.59357	0.985;0.972	P;P	0.48901	0.594;0.594	D	0.89563	0.3808	10	0.87932	D	0	.	12.9246	0.58252	0.0:1.0:0.0:0.0	.	399;441	B4DEI8;Q14CN4	.;K2C72_HUMAN	K	441;441;399;253	ENSP00000441160:E441K;ENSP00000293745:E441K;ENSP00000346269:E399K;ENSP00000446151:E253K	ENSP00000293745:E441K	E	-	1	0	KRT72	51267021	0.998000	0.40836	0.900000	0.35374	0.604000	0.37047	2.550000	0.45811	2.774000	0.95407	0.555000	0.69702	GAA	.		0.453	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52980754	C	T	52980754	3	4	55	1	0	0	0	0	1	0	0	0	8512	893	31	1	222	1	KRT72	12	52980754	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	37156939	52980754	80871141	102	11675											
HNRNPA1	3178	broad.mit.edu;ucsc.edu	37	chr12	54677695	54677695	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggaggaaattttggaggcaGaagctctggcccctatggcg	16	8	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:54677695G>C	ENST00000340913.6	+	9	1060	c.1007G>C	c.(1006-1008)aGa>aCa	p.R336T	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R231T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R271T|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.R284T|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	336	Gly-rich.|Nuclear targeting sequence (M9).				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGGAGGCAGAAGCTCTGGC	0.428																																					p.R336T	Colon(83;502 1289 8436 16406 24870)	.											.	HNRNPA1-93	0			c.G1007C						.						70	77	75					12																	54677695		2023	4173	6196	SO:0001583	missense	3178	exon9			GAGGCAGAAGCTC	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1007G>C	12.37:g.54677695G>C	ENSP00000341826:p.Arg336Thr	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	23	5	NM_031157	1	1	1960	2572	610	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733322	0.69189	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000550482	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	4.06	4.06	0.47325	.	0.000000	0.64402	D	0.000020	D	0.92260	0.7545	M	0.72576	2.205	0.45946	D	0.998778	D;D;D;D;P;D;D	0.62365	0.991;0.989;0.989;0.989;0.851;0.989;0.981	D;D;D;D;P;D;D	0.76071	0.987;0.978;0.978;0.978;0.474;0.978;0.95	D	0.92793	0.6250	10	0.72032	D	0.01	.	14.5535	0.68084	0.0:0.0:1.0:0.0	.	262;271;284;284;231;284;336	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;.;ROA1_HUMAN	T	284;268;284;336;284;284;271;231;155	ENSP00000448617:R284T;ENSP00000341826:R336T;ENSP00000447260:R231T;ENSP00000446486:R155T	ENSP00000333504:R284T	R	+	2	0	HNRNPA1	52963962	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.572000	0.82409	2.573000	0.86826	0.561000	0.74099	AGA	.		0.428	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		C	54677695	G	C	54677695	3	2	55	1	0	0	0	0	1	0	0	0	7284	942	33	3	1041	3	HNRNPA1	12	54677695	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1696941	54677695	79174200	103	11676											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_152435	0	0	0	1	1	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	55	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	41659488	96337183	37514712	104	11677											
UNG	7374	hgsc.bcm.edu	37	chr12	109536257	109536257	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatcccagccaagaaggcCccggctgggcaggaggagcc	15	15	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:109536257C>G	ENST00000242576.2	+	2	259	c.153C>G	c.(151-153)gcC>gcG	p.A51A	UNG_ENST00000336865.2_Silent_p.A42A	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCAAGAAGGCCCCGGCTGGGC	0.716								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																												p.A51A		.											.	UNG-1083	0			c.C153G						.						16	20	19					12																	109536257		2164	4240	6404	SO:0001819	synonymous_variant	7374	exon2	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	GAAGGCCCCGGCT	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.153C>G	12.37:g.109536257C>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	94	30	NM_080911	0	0	71	106	35		Silent	SNP	ENST00000242576.2	37	CCDS9124.1																																																																																			.		0.716	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		G	109536257	C	G	109536257	2	3	55	1	0	0	0	0	0	0	0	1	17048	610	22	3		3	UNG	12	109536257	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	13199074	109536257	24315638	105	11678											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000392549.2_Silent_p.H115H|RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000407967.3_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	11	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	55	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	7651650	117187907	16663988	106	11679			1	55		2	2	13	N	T_C	6.318305e-05
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187919	117187919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccatttccaccatggCggccaccgcgggggctccct	10	19	0	0	rs116754010	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:117187919C>T	ENST00000257575.4	+	4	590	c.357C>T	c.(355-357)ggC>ggT	p.G119G	RNFT2_ENST00000392549.2_Silent_p.G119G|RNFT2_ENST00000319176.7_Silent_p.G119G|RNFT2_ENST00000407967.3_Silent_p.G119G			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	119	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCCACCATGGCGGCCACCGCG	0.751													C|||	314	0.0626997	0.1452	0.0144	5008	,	,		11841	0.0208		0.0159	False		,,,				2504	0.0767				p.G119G		.											.	.	0			c.C357T						.	C	,	436,3370		21,394,1488	4	4	4		357,357	-7.2	0	12	dbSNP_132	4	155,7571		1,153,3709	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	22,547,5197	TT,TC,CC		2.0062,11.4556,5.1249	,	119/445,119/421	117187919	591,10941	1903	3863	5766	SO:0001819	synonymous_variant	84900	exon4			CCATGGCGGCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.357C>T	12.37:g.117187919C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			C|0.954;T|0.046		0.751	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		T	117187919	C	T	117187919	2	4	55	1	0	0	0	0	0	0	0	1	13547	755	27	1		1	RNFT2	12	117187919	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	12	117187919	16663976	107	11680			1	55		2	2	13	N	T_C	6.318305e-05
PGAM5	192111	hgsc.bcm.edu	37	chr12	133294107	133294107	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtccattcgtctatgacGcgcgccatagagaccaccga	9	14	1	2	rs547560937		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr12:133294107G>T	ENST00000498926.2	+	3	511	c.453G>T	c.(451-453)acG>acT	p.T151T	PGAM5_ENST00000317555.2_Silent_p.T151T|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_Silent_p.T2T|PGAM5_ENST00000454808.2_Silent_p.T2T	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	151					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CGTCTATGACGCGCGCCATAG	0.612																																					p.T151T		.											.	PGAM5-90	0			c.G453T						.						68	73	71					12																	133294107		2203	4298	6501	SO:0001819	synonymous_variant	192111	exon3			TATGACGCGCGCC	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.453G>T	12.37:g.133294107G>T		Somatic	107	0		WXS	Illumina GAIIx	Phase_I	77	4	NM_138575	0	0	24	24	0	A9LN06|C9IZY7|Q96JB0	Silent	SNP	ENST00000498926.2	37	CCDS53845.1																																																																																			.		0.612	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		T	133294107	G	T	133294107	2	4	55	1	0	0	0	0	0	0	0	1	11815	1074	38	2		2	PGAM5	12	133294107	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	16106188	133294107	557788	108	11681											
SIX6	4990	broad.mit.edu	37	chr14	60977896	60977897	+	Frame_Shift_Ins	INS	-	-	C													gggcgtcgccaccagcccggINSccgccagtctatccagcaag					rs372216093		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr14:60977896_60977897insC	ENST00000327720.5	+	2	1115_1116	c.667_668insC	c.(667-669)gccfs	p.A223fs		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	223					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CACCAGCCCGGCCGCCAGTCTA	0.663																																					p.A223fs		.											.	SIX6-90	0			c.667_668insC						.																																			SO:0001589	frameshift_variant	4990	exon2			AGCCCGGCCGCCA	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.669dupC	14.37:g.60977898_60977898dupC	ENSP00000328596:p.Ala223fs	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	124	6	NM_007374	0	0	0	0	0	Q6NT42|Q9P1X8	Frame_Shift_Ins	INS	ENST00000327720.5	37	CCDS9747.1																																																																																			.		0.663	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			C	60977897	-	C	60977896	7	5	55	1	0	1	1	0	0	0	0	0	14396	1203	42	0	673	0	SIX6	14	60977896	Frame_Shift_Ins	INS	-	TCGA-OR-A5LO-01A-11D-A29I-10		60977896	46371644	109	11682											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	81209477	81209477	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcctttctatctgttgaaaGagacactgcaactcagattc	7	10	3	3	rs201355718		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr14:81209477G>C	ENST00000555265.1	-	19	3123	c.2748C>G	c.(2746-2748)ctC>ctG	p.L916L	CEP128_ENST00000281129.3_Silent_p.L916L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	916						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGTTGAAAGAGACACTGCA	0.393																																					p.L916L		.											.	CEP128-91	0			c.C2748G						.						123	111	115					14																	81209477		2203	4300	6503	SO:0001819	synonymous_variant	145508	exon18			TTGAAAGAGACAC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2748C>G	14.37:g.81209477G>C		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	102	20	NM_152446	0	0	4	4	0	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																			G|0.999;C|0.001		0.393	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		C	81209477	G	C	81209477	2	2	55	1	0	0	0	0	0	0	0	1	1754	929	33	3		3	C14orf145	14	81209477	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	20231581	81209477	26140063	110	11683											
DIO3	1735	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102028383	102028383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgccttccagcgcctgGtcactaagtaccagcgcgac	11	15	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr14:102028383G>T	ENST00000510508.4	+	1	696	c.550G>T	c.(550-552)Gtc>Ttc	p.V184F	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.V158F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	184					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCAGCGCCTGGTCACTAAGTA	0.617																																					.		.											.	DIO3-494	0			.						.						41	47	45					14																	102028383		2073	4189	6262	SO:0001583	missense	1735	.			CGCCTGGTCACTA	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.550G>T	14.37:g.102028383G>T	ENSP00000427336:p.Val184Phe	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	100	22	.	0	0	0	0	0	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536858	0.85812	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.38401	1.14;1.14	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.231875	0.26096	U	0.026372	T	0.56321	0.1977	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.60342	-0.7282	10	0.48119	T	0.1	.	14.2065	0.65737	0.0:0.0:1.0:0.0	.	158	P55073	IOD3_HUMAN	F	158;184	ENSP00000352273:V158F;ENSP00000427336:V184F	ENSP00000352273:V184F	V	+	1	0	DIO3;AL049836.1	101098136	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.515000	0.98015	1.799000	0.52666	0.462000	0.41574	GTC	.		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028383	G	T	102028383	3	4	55	1	0	0	0	0	1	0	0	0	4540	1261	44	3	552	3	DIO3	14	102028383	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	20818906	102028383	5321157	111	11684											
SMAD6	4091	hgsc.bcm.edu	37	chr15	66995716	66995716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggatgggagcttgggCagccgagctgagccggcccc	18	12	0	1	rs149612008		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr15:66995716C>T	ENST00000288840.5	+	1	1151	c.120C>T	c.(118-120)ggC>ggT	p.G40G	SMAD6_ENST00000457357.2_Silent_p.G40G	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	40					BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						GGAGCTTGGGCAGCCGAGCTG	0.776																																					p.G40G	Esophageal Squamous(179;72 2004 22333 39628 47290)	.											.	SMAD6-415	0			c.C120T						.	C		13,2667		0,13,1327	2	2	2		120	2.6	1	15	dbSNP_134	2	163,5563		1,161,2701	no	coding-synonymous	SMAD6	NM_005585.4		1,174,4028	TT,TC,CC		2.8467,0.4851,2.0937		40/497	66995716	176,8230	1340	2863	4203	SO:0001819	synonymous_variant	4091	exon1			CTTGGGCAGCCGA	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.120C>T	15.37:g.66995716C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	57	23	NM_005585	0	0	0	0	0	A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Silent	SNP	ENST00000288840.5	37	CCDS10221.1																																																																																			A|0.008;C|0.992		0.776	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		T	66995716	C	T	66995716	2	4	55	1	0	0	0	0	0	0	0	1	14807	697	25	3		3	SMAD6	15	66995716	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10		66995716	35535676	112	11685											
PTPN9	5780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75782617	75782617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagggtacatccccataacGgtttttctctaggtttcctg	9	11	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr15:75782617G>C	ENST00000306726.2	-	8	1506	c.994C>G	c.(994-996)Cgt>Ggt	p.R332G	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	332	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCCCATAACGGTTTTTCTCT	0.418																																					p.R332G		.											.	PTPN9-226	0			c.C994G						.						158	141	147					15																	75782617		2197	4294	6491	SO:0001583	missense	5780	exon8			CATAACGGTTTTT		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.994C>G	15.37:g.75782617G>C	ENSP00000303554:p.Arg332Gly	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	110	54	NM_002833	0	0	7	14	7	Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.968450	0.74131	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.90844	-2.74	5.6	3.55	0.40652	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	H	0.97415	4	0.49389	D	0.999785	D	0.89917	1.0	D	0.79784	0.993	D	0.96937	0.9685	10	0.87932	D	0	.	11.4621	0.50217	0.0:0.0:0.6626:0.3374	.	332	P43378	PTN9_HUMAN	G	332;322	ENSP00000303554:R332G	ENSP00000303554:R332G	R	-	1	0	PTPN9	73569672	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.744000	0.47450	1.304000	0.44892	0.651000	0.88453	CGT	.		0.418	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			C	75782617	G	C	75782617	3	2	55	1	0	0	0	0	1	0	0	0	12839	1116	39	2	811	2	PTPN9	15	75782617	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	8786901	75782617	26748775	113	11686											
C16orf11	146325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	615240	615241	+	In_Frame_Ins	INS	-	-	GACGAGGAGTTCCCA													ggctggggcacctgtgttgcINSgacgaggagttcccagaccc					rs368109839|rs547328716		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:615240_615241insGACGAGGAGTTCCCA	ENST00000409413.3	+	3	1928_1929	c.1649_1650insGACGAGGAGTTCCCA	c.(1648-1653)gcgacg>gcGACGAGGAGTTCCCAgacg	p.556_557insRSSQT	NHLRC4_ENST00000424439.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank|PIGQ_ENST00000409527.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		556										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						ACCTGTGTTGCGACGAGGAGTT	0.673																																					p.A550delinsATRSSQ		.											.	C16orf11-23	0			c.1649_1650insGACGAGGAGTTCCCA						.																																			SO:0001652	inframe_insertion	146325	exon3			GTGTTGCGACGAG																												ENST00000409413.3:c.1650_1664dupGACGAGGAGTTCCCA	16.37:g.615240_615241insGACGAGGAGTTCCCA	ENSP00000386499:p.Arg552_Thr556dup	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	265	13	NM_145270	0	0	0	0	0	B8ZZ27|Q8N233|Q96AX3|Q96S23	In_Frame_Ins	INS	ENST00000409413.3	37	CCDS45365.1																																																																																			.		0.673	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			GACGAGGAGTTCCCA	615241	-	GACGAGGAGTTCCCA	615240	7	5	55	1	0	1	1	0	0	0	0	0	1815	768	27	0	1655	0	C16orf11	16	615240	In_Frame_Ins	INS	-	TCGA-OR-A5LO-01A-11D-A29I-10		615240	89739513	114	11687											
PKD1	5310	hgsc.bcm.edu	37	chr16	2140912	2140912	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcaggaagagcagcgaGgccgccaggccacgggctgc	16	12	0	1	rs112387277	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:2140912G>C	ENST00000262304.4	-	43	12184	c.11976C>G	c.(11974-11976)gcC>gcG	p.A3992A	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Silent_p.A3991A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3992					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						AGAGCAGCGAGGCCGCCAGGC	0.706													g|||	4	0.000798722	0	0.0014	5008	,	,		10868	0		0.003	False		,,,				2504	0				p.A3992A		.											.	PKD1-91	0			c.C11976G						.		,	1,4287		0,1,2143	9	11	10		11973,11976	-2	0.8	16	dbSNP_132	10	29,8457		0,29,4214	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,30,6357	CC,CG,GG		0.3417,0.0233,0.2349	,	3991/4303,3992/4304	2140912	30,12744	2144	4243	6387	SO:0001819	synonymous_variant	5310	exon43			CAGCGAGGCCGCC	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.11976C>G	16.37:g.2140912G>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	23	22	NM_001009944	0	0	0	10	10	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.999;C|0.001		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2140912	G	C	2140912	2	2	55	1	0	0	0	0	0	0	0	1	12002	987	35	3		3	PKD1	16	2140912	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1525672	2140912	88213841	115	11688											
BFAR	51283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	14761544	14761544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtatcaacgcaggggCtttttgtggccatgttctgg	14	7	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:14761544C>A	ENST00000261658.2	+	8	1490	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	BFAR_ENST00000426842.2_Missense_Mutation_p.L277I|BFAR_ENST00000563971.1_Missense_Mutation_p.L280I|BFAR_ENST00000563082.1_3'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	405					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AACGCAGGGGCTTTTTGTGGC	0.473																																					p.L405I		.											.	BFAR-92	0			c.C1213A						.						145	141	142					16																	14761544		2197	4300	6497	SO:0001583	missense	51283	exon8			CAGGGGCTTTTTG	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1213C>A	16.37:g.14761544C>A	ENSP00000261658:p.Leu405Ile	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	92	41	NM_016561	0	0	24	37	13	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500000	0.44455	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.54071	2.94;0.59	5.69	5.69	0.88448	.	0.123452	0.56097	D	0.000030	T	0.34978	0.0916	N	0.12182	0.205	0.37461	D	0.915217	B;B;B	0.15141	0.002;0.012;0.012	B;B;B	0.11329	0.001;0.006;0.006	T	0.26224	-1.0109	10	0.29301	T	0.29	.	13.7201	0.62720	0.1539:0.8461:0.0:0.0	.	277;405;405	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	I	405;277	ENSP00000261658:L405I;ENSP00000400634:L277I	ENSP00000261658:L405I	L	+	1	0	BFAR	14669045	0.993000	0.37304	0.996000	0.52242	0.989000	0.77384	2.864000	0.48404	2.673000	0.90976	0.563000	0.77884	CTT	.		0.473	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		A	14761544	C	A	14761544	3	1	55	1	0	0	0	0	1	0	0	0	1416	797	28	3	1239	3	BFAR	16	14761544	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	12620632	14761544	75593209	116	11689											
TOX3	27324	broad.mit.edu	37	chr16	52473370	52473370	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctgttgattaatttGctgctggagatgctgctgct	12	8	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:52473370G>C	ENST00000219746.9	-	7	1782	c.1498C>G	c.(1498-1500)Caa>Gaa	p.Q500E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q495E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	500	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						tgattaatttgctgctggaga	0.577																																					p.Q500E		.											.	TOX3-68	0			c.C1498G						.						15	14	14					16																	52473370		2095	4151	6246	SO:0001583	missense	27324	exon7			TAATTTGCTGCTG	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.1498C>G	16.37:g.52473370G>C	ENSP00000219746:p.Gln500Glu	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	17	3	NM_001080430	0	0	0	0	0	B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906825	0.33628	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.11495	3.05;2.77	5.66	5.66	0.87406	.	0.246720	0.34046	N	0.004302	T	0.10337	0.0253	N	0.24115	0.695	0.58432	D	0.999998	B;B	0.24483	0.104;0.044	B;B	0.21708	0.036;0.036	T	0.17806	-1.0357	10	0.37606	T	0.19	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	495;500	B4DRD0;O15405	.;TOX3_HUMAN	E	500;495	ENSP00000219746:Q500E;ENSP00000385705:Q495E	ENSP00000219746:Q500E	Q	-	1	0	TOX3	51030871	1.000000	0.71417	0.997000	0.53966	0.634000	0.38068	9.032000	0.93736	2.666000	0.90696	0.563000	0.77884	CAA	.		0.577	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		C	52473370	G	C	52473370	3	2	55	1	0	0	0	0	1	0	0	0	16427	1328	46	3	236	3	TOX3	16	52473370	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	37711826	52473370	37881383	117	11690											
IRX3	79191	hgsc.bcm.edu	37	chr16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggagagcgggtgcAggcgggggccgggcggtggg	25	9	0	1	rs1450355	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1		1	False		,,,				2504	1				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1	2	2		1265	2.5	1	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_024336	0	0	0	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54318528	A	G	54318528	3	3	55	1	0	0	0	0	1	0	0	0	7872	188	7	4	252	4	IRX3	16	54318528	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	1845158	54318528	36036225	118	11691											
CNOT1	23019	broad.mit.edu	37	chr16	58577421	58577421	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattaagaataagtggtaaCgcccagtgccatatatagac	8	7	0	2	rs41260	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:58577421C>T	ENST00000317147.5	-	31	4767				CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Silent_p.A1508A|CNOT1_ENST00000569240.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		taagtggtaacgcccagtgcc	0.343													T|||	4038	0.80631	0.9062	0.7392	5008	,	,		20105	0.9712		0.5726	False		,,,				2504	0.7894				p.A1508A		.											.	CNOT1-95	0			c.G4524A						.	T	,	2224,396		955,314,41	48	54	52		,4524	-6.4	0	16	dbSNP_76	52	2544,2074		737,1070,502	no	intron,coding-synonymous	CNOT1	NM_016284.3,NM_206999.1	,	1692,1384,543	TT,TC,CC		44.9112,15.1145,34.1254	,	,1508/1552	58577421	4768,2470	1310	2309	3619	SO:0001627	intron_variant	23019	exon31			TGGTAACGCCCAG	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+89G>A	16.37:g.58577421C>T		Somatic	84	2		WXS	Illumina GAIIx	Phase_I	102	6	NM_206999	0	0	6	6	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			C|0.186;T|0.814		0.343	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58577421	C	T	58577421	1	4	55	0	1	0	0	0	0	0	0	0	3624	523	19	1		1	CNOT1	16	58577421	Intron	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	4258893	58577421	31777332	119	11692											
CTRL	1506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67963838	67963838	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggagggcctgtggtgagctCagttgtaggctatgacctgg	18	7	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:67963838C>G	ENST00000574481.1	-	7	1355	c.794G>C	c.(793-795)tGa>tCa	p.*265S	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	0					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTGGTGAGCTCAGTTGTAGGC	0.542																																					p.X265S		.											.	CTRL-90	0			c.G794C						.						142	131	135					16																	67963838		2198	4300	6498	SO:0001578	stop_lost	1506	exon7			TGAGCTCAGTTGT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.794G>C	16.37:g.67963838C>G		Somatic	54	0		WXS	Illumina GAIIx	Phase_I	82	19	NM_001907	0	0	0	2	2		Missense_Mutation	SNP	ENST00000574481.1	37	CCDS10852.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638761	0.47153	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.74	-0.425	0.12317	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5296	0.22320	0.1162:0.521:0.0:0.3628	.	.	.	.	S	265	.	.	X	-	2	2	CTRL	66521339	0.424000	0.25490	0.208000	0.23602	0.916000	0.54674	-0.037000	0.12164	0.058000	0.16222	0.491000	0.48974	TGA	.		0.542	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			G	67963838	C	G	67963838	4	3	55	1	0	0	0	0	0	0	0	0	4037	837	29	3	4	3	CTRL	16	67963838	Nonstop_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	9386417	67963838	22390915	120	11693											
FUK	197258	broad.mit.edu	37	chr16	70507049	70507049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccctgcgagcctggcggGcctcctggcgcctgtcctgg	16	16	0	0	rs550917987	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:70507049G>T	ENST00000288078.6	+	15	1802	c.1570G>T	c.(1570-1572)Gcc>Tcc	p.A524S	FUK_ENST00000378912.2_Missense_Mutation_p.A556S|FUK_ENST00000571514.1_Missense_Mutation_p.A17S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	524						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGCCTGGCGGGCCTCCTGGCG	0.701													G|||	10	0.00199681	8e-04	0	5008	,	,		13478	0.001		0	False		,,,				2504	0.0082				p.A524S		.											.	FUK-91	0			c.G1570T						.						5	7	7					16																	70507049		1868	4034	5902	SO:0001583	missense	197258	exon15			TGGCGGGCCTCCT		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.1570G>T	16.37:g.70507049G>T	ENSP00000288078:p.Ala524Ser	Somatic	13	1		WXS	Illumina GAIIx	Phase_I	68	5	NM_145059	0	0	3	3	0	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280454	0.40294	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.06068	3.35;3.37	5.84	3.9	0.45041	.	0.430306	0.25642	N	0.029261	T	0.03520	0.0101	N	0.17872	0.535	0.80722	D	1	B;B;B	0.30406	0.016;0.038;0.278	B;B;B	0.24974	0.018;0.006;0.057	T	0.35226	-0.9797	10	0.06757	T	0.87	-9.6279	9.5691	0.39416	0.2717:0.0:0.7283:0.0	.	556;430;524	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	S	524;556	ENSP00000288078:A524S;ENSP00000368192:A556S	ENSP00000288078:A524S	A	+	1	0	FUK	69064550	0.625000	0.27111	0.557000	0.28306	0.834000	0.47266	2.535000	0.45685	0.836000	0.34901	0.655000	0.94253	GCC	.		0.701	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70507049	G	T	70507049	3	4	55	1	0	0	0	0	1	0	0	0	6120	1203	42	3	1624	3	FUK	16	70507049	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	2543211	70507049	19847704	121	11694											
MARVELD3	91862	broad.mit.edu	37	chr16	71660364	71660365	+	Frame_Shift_Del	DEL	GA	GA	-													ggaaccgggaccgggagaggGagagagagagggaaagagac							TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr16:71660364_71660365delGA	ENST00000268485.3	+	1	276_277	c.232_233delGA	c.(232-234)gagfs	p.E78fs	MARVELD3_ENST00000567501.1_5'Flank|MARVELD3_ENST00000565261.1_Frame_Shift_Del_p.E78fs|MARVELD3_ENST00000299952.4_Frame_Shift_Del_p.E78fs|MARVELD3_ENST00000567566.1_Frame_Shift_Del_p.E78fs|RP11-432I5.2_ENST00000562763.1_RNA	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	78	Arg-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCgggagagggagagagagagg	0.703																																					p.78_78del		.											.	MARVELD3-91	0			c.232_233del						.																																			SO:0001589	frameshift_variant	91862	exon1			GAGAGGGAGAGAG	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.232_233delGA	16.37:g.71660372_71660373delGA	ENSP00000268485:p.Glu78fs	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	228	9	NM_001017967	0	0	0	0	0	A8K820|H3BQM5|Q96MJ4	Frame_Shift_Del	DEL	ENST00000268485.3	37	CCDS10904.1																																																																																			.		0.703	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		-	71660365	GA	-	71660364	7	5	55	1	0	1	0	1	0	0	0	0	9357	1175	41	0	234	0	MARVELD3	16	71660364	Frame_Shift_Del	DEL	GA	TCGA-OR-A5LO-01A-11D-A29I-10	1153315	71660364	18694389	122	11695											
UNC45B	146862	broad.mit.edu	37	chr17	33475419	33475419	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgctggccacgctttAtcggaaccgggcagcctgtg	14	14	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:33475419A>T	ENST00000268876.5	+	2	234	c.137A>T	c.(136-138)tAt>tTt	p.Y46F	UNC45B_ENST00000591048.1_Missense_Mutation_p.Y46F|UNC45B_ENST00000394570.2_Missense_Mutation_p.Y46F|UNC45B_ENST00000433649.1_Missense_Mutation_p.Y46F|UNC45B_ENST00000378449.1_Missense_Mutation_p.Y46F	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	46					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)				GCCACGCTTTATCGGAACCGG	0.632																																					p.Y46F		.											.	UNC45B-157	0			c.A137T						.						59	55	57					17																	33475419		2203	4300	6503	SO:0001583	missense	146862	exon2			CGCTTTATCGGAA	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.137A>T	17.37:g.33475419A>T	ENSP00000268876:p.Tyr46Phe	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	86	3	NM_001267052	0	0	0	0	0	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373644	0.82573	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.81	4.81	0.61882	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.414726	0.29266	N	0.012644	T	0.67720	0.2923	L	0.31664	0.95	0.80722	D	1	B;P;D	0.54047	0.383;0.923;0.964	B;P;D	0.65773	0.237;0.718;0.938	T	0.71115	-0.4686	10	0.66056	D	0.02	-12.764	13.7027	0.62620	1.0:0.0:0.0:0.0	.	46;46;46	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	F	46	ENSP00000378071:Y46F;ENSP00000268876:Y46F;ENSP00000412840:Y46F;ENSP00000367710:Y46F	ENSP00000268876:Y46F	Y	+	2	0	UNC45B	30499532	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.756000	0.68757	2.026000	0.59711	0.460000	0.39030	TAT	.		0.632	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33475419	A	T	33475419	3	4	55	1	0	0	0	0	1	0	0	0	17038	449	16	5	139	5	UNC45B	17	33475419	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10		33475419	47719791	123	11696											
MED1	5469	bcgsc.ca	37	chr17	37580917	37580917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaccccataattaatgGtgcaattgggagtttgtaca	10	6	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:37580917G>T	ENST00000394287.3	-	11	1019	c.814C>A	c.(814-816)Cca>Aca	p.P272T	MED1_ENST00000300651.6_Missense_Mutation_p.P272T			O95243	MBD4_HUMAN	mediator complex subunit 1	429					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)		ATAATTAATGGTGCAATTGGG	0.368										HNSCC(31;0.082)																											p.P272T	Pancreas(21;279 768 2492 4877 24026)	.											.	MED1-620	0			c.C814A						.						156	147	150					17																	37580917		2203	4300	6503	SO:0001583	missense	5469	exon11			TTAATGGTGCAAT	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	ENST00000394287.3:c.814C>A	17.37:g.37580917G>T	ENSP00000377828:p.Pro272Thr	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_004774	0	0	1	1	0	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.678439	0.88542	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.47528	0.84	5.46	5.46	0.80206	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.67804	0.2932	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64011	-0.6507	9	0.33141	T	0.24	-6.463	18.8995	0.92437	0.0:0.0:1.0:0.0	.	272;272	Q15648;Q15648-3	MED1_HUMAN;.	T	272	ENSP00000300651:P272T	ENSP00000300651:P272T	P	-	1	0	MED1	34834443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.118000	0.94355	2.571000	0.86741	0.561000	0.74099	CCA	.		0.368	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		T	37580917	G	T	37580917	3	4	55	1	0	0	0	0	1	0	0	0	9463	1261	44	3	3959	3	MED1	17	37580917	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	4105498	37580917	43614293	124	11697											
KRTAP4-4	84616	bcgsc.ca	37	chr17	39316482	39316482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacaatggggcctgtagcaCctggacacacagcagctggg	13	13	0	0	rs366700	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:39316482C>G	ENST00000390661.3	-	1	501	c.462G>C	c.(460-462)agG>agC	p.R154S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	154	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		R -> S (in dbSNP:rs366700).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCTGTAGCACCTGGACACAC	0.617													c|||	523	0.104433	0.379	0.0288	5008	,	,		20637	0		0.002	False		,,,				2504	0				p.R154S		.											.	KRTAP4-4-44	0			c.G462C						.	G	SER/ARG	1375,3019		224,927,1046	39	46	44		462	1.5	1	17	dbSNP_80	44	7,8585		0,7,4289	yes	missense	KRTAP4-4	NM_032524.1	110	224,934,5335	GG,GC,CC		0.0815,31.2927,10.6422	benign	154/167	39316482	1382,11604	2197	4296	6493	SO:0001583	missense	84616	exon1			GTAGCACCTGGAC	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.462G>C	17.37:g.39316482C>G	ENSP00000375076:p.Arg154Ser	Somatic	274	2		WXS	Illumina GAIIx	Phase_I	116	6	NM_032524	0	0	0	0	0	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	190	0.08699633699633699	179	0.3638211382113821	11	0.03038674033149171	0	0.0	0	0.0	.	2.548	-0.304815	0.05495	0.312927	8.15E-4	ENSG00000171396	ENST00000390661	T	0.00571	6.5	4.79	1.5	0.22942	.	0.286046	0.18063	U	0.152889	T	0.00012	0.0000	N	0.00159	-1.955	0.54753	P	1.8999999999991246E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.03068	-1.1076	9	0.19147	T	0.46	.	4.8968	0.13755	0.2534:0.289:0.4576:0.0	rs366700;rs52806510;rs366700	154	Q9BYR3	KRA44_HUMAN	S	154	ENSP00000375076:R154S	ENSP00000375076:R154S	R	-	3	2	KRTAP4-4	36570008	0.000000	0.05858	0.990000	0.47175	0.502000	0.33828	-0.971000	0.03806	0.113000	0.18004	-0.335000	0.08231	AGG	C|0.485;G|0.515		0.617	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			G	39316482	C	G	39316482	3	3	55	1	0	0	0	0	1	0	0	0	8581	506	18	3	42	3	KRTAP4-4	17	39316482	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	1735565	39316482	41878728	125	11698											
ASB16	92591	hgsc.bcm.edu	37	chr17	42254281	42254281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagactgcgctgaacAcggcgtgcgctggggccgag	19	11	0	2	rs7212573	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:42254281A>G	ENST00000293414.1	+	3	829	c.745A>G	c.(745-747)Acg>Gcg	p.T249A	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	249				T -> A (in Ref. 1; BAB70800/BAG37167, 3; AAH75088 and 4; AAL57353). {ECO:0000305}.	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)		TGCGCTGAACACGGCGTGCGC	0.756													G|||	2594	0.517971	0.702	0.4424	5008	,	,		11135	0.752		0.2932	False		,,,				2504	0.3129				p.T249A		.											.	ASB16-227	0			c.A745G						.	G	ALA/THR,ARG/CYS	2530,1736		801,928,404	7	8	7		745,340	3.1	0.7	17	dbSNP_116	7	2387,5811		422,1543,2134	no	missense,missense	ASB16,C17orf65	NM_080863.4,NM_178542.3	58,180	1223,2471,2538	GG,GA,AA		29.1169,40.6939,39.4496	benign,benign	249/454,114/194	42254281	4917,7547	2133	4099	6232	SO:0001583	missense	92591	exon3			CTGAACACGGCGT	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.745A>G	17.37:g.42254281A>G	ENSP00000293414:p.Thr249Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_080863	0	0	0	3	3	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	1144|1144	0.5238095238095238|0.5238095238095238	349|349	0.709349593495935|0.709349593495935	142|142	0.39226519337016574|0.39226519337016574	420|420	0.7342657342657343|0.7342657342657343	233|233	0.3073878627968338|0.3073878627968338	G|G	5.919|5.919	0.353578|0.353578	0.11182|0.11182	0.593061|0.593061	0.291169|0.291169	ENSG00000168597|ENSG00000161664	ENST00000303061|ENST00000293414	.|T	.|0.51817	.|0.69	5.22|5.22	3.08|3.08	0.35506|0.35506	.|Ankyrin repeat-containing domain (4);	.|0.157781	.|0.56097	.|N	.|0.000038	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.04148|0.04148	-0.265|-0.265	0.58432|0.58432	P|P	8.000000000008E-6|8.000000000008E-6	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.41502|0.41502	-0.9505|-0.9505	7|9	0.87932|0.05833	D|T	0|0.94	-9.3151|-9.3151	9.5645|9.5645	0.39389|0.39389	0.0761:0.0:0.6662:0.2577|0.0761:0.0:0.6662:0.2577	rs7212573|rs7212573	114|249	Q495Z4|Q96NS5	CQ065_HUMAN|ASB16_HUMAN	R|A	114|249	.|ENSP00000293414:T249A	ENSP00000366342:C114R|ENSP00000293414:T249A	C|T	-|+	1|1	0|0	C17orf65|ASB16	39609807|39609807	0.002000|0.002000	0.14202|0.14202	0.723000|0.723000	0.30687|0.30687	0.056000|0.056000	0.15407|0.15407	1.059000|1.059000	0.30517|0.30517	0.777000|0.777000	0.33496|0.33496	-0.227000|-0.227000	0.12334|0.12334	TGT|ACG	A|0.476;G|0.524		0.756	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			G	42254281	A	G	42254281	3	3	55	1	0	0	0	0	1	0	0	0	1021	159	6	4	755	4	ASB16	17	42254281	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	2937799	42254281	38940929	126	11699											
GFAP	2670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42989105	42989105	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgccggtagtcgttggcttCgtgcttggcctggcggagca	17	11	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:42989105C>A	ENST00000253408.5	-	5	906	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	GFAP_ENST00000435360.2_Nonsense_Mutation_p.E281*|GFAP_ENST00000586793.1_Nonsense_Mutation_p.E281*|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	281	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCGTTGGCTTCGTGCTTGGCC	0.682																																					p.E281X		.											.	GFAP-516	0			c.G841T						.						53	49	50					17																	42989105		2203	4300	6503	SO:0001587	stop_gained	2670	exon5			TGGCTTCGTGCTT	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.841G>T	17.37:g.42989105C>A	ENSP00000253408:p.Glu281*	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	86	70	NM_001131019	0	0	0	0	0	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Nonsense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402053	0.83120	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9208	0.88965	0.0:1.0:0.0:0.0	.	.	.	.	X	281;256;281	.	ENSP00000253408:E281X	E	-	1	0	GFAP	40344631	1.000000	0.71417	0.997000	0.53966	0.442000	0.32017	7.583000	0.82559	2.755000	0.94549	0.655000	0.94253	GAA	.		0.682	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		A	42989105	C	A	42989105	4	1	55	1	0	0	0	0	0	1	0	0	6363	893	31	2	606	2	GFAP	17	42989105	Nonsense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	734824	42989105	38206105	127	11700											
PRKAR1A	5573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	66521052	66521052	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttttaccctcttttaGgtgatgaaggggataacttc	8	7	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:66521052G>A	ENST00000589228.1	+	6	630		c.e6-1		PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CCCTCTTTTAGGTGATGAAGG	0.289			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												.	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	.	PRKAR1A-1141	0			c.503-1G>A						.						114	121	118					17																	66521052		2203	4300	6503	SO:0001630	splice_region_variant	5573	exon6	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	CTTTTAGGTGATG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.503-1G>A	17.37:g.66521052G>A		Somatic	67	0		WXS	Illumina GAIIx	Phase_I	34	18	NM_212471	0	0	2	2	0	K7ER48|Q567S7	Splice_Site	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560436	0.86335	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1221	0.97964	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAR1A	64032647	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.476000	0.97823	2.754000	0.94517	0.655000	0.94253	.	.		0.289	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		Intron	A	66521052	G	A	66521052	5	1	55	1	0	0	0	0	0	0	1	0	12545	1014	35	3	520	3	PRKAR1A	17	66521052	Splice_Site	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	23531947	66521052	14674158	128	11701											
FASN	2194	hgsc.bcm.edu	37	chr17	80039129	80039129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggacagcaccaggttgagcTcacgctccagcgtctggcgc	13	15	2	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:80039129T>A	ENST00000306749.2	-	38	6724	c.6506A>T	c.(6505-6507)gAg>gTg	p.E2169V	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2169	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CAGGTTGAGCTCACGCTCCAG	0.662																																					p.E2169V	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.A6506T						.						29	25	26					17																	80039129		2185	4284	6469	SO:0001583	missense	2194	exon38			TTGAGCTCACGCT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6506A>T	17.37:g.80039129T>A	ENSP00000304592:p.Glu2169Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	208	14	NM_004104	0	0	62	62	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424698	0.62733	.	.	ENSG00000169710	ENST00000306749	T	0.50277	0.75	4.87	4.87	0.63330	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.259619	0.35838	N	0.002953	T	0.64382	0.2593	M	0.71920	2.185	0.48696	D	0.999696	D	0.59767	0.986	P	0.60886	0.88	T	0.69610	-0.5099	10	0.87932	D	0	-25.7181	14.4292	0.67238	0.0:0.0:0.0:1.0	.	2169	P49327	FAS_HUMAN	V	2169	ENSP00000304592:E2169V	ENSP00000304592:E2169V	E	-	2	0	FASN	77632418	1.000000	0.71417	0.260000	0.24451	0.007000	0.05969	6.185000	0.72013	1.808000	0.52836	0.260000	0.18958	GAG	.		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80039129	T	A	80039129	3	1	55	1	0	0	0	0	1	0	0	0	5705	1551	54	5	1053	5	FASN	17	80039129	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	13518077	80039129	1156081	129	11702											
FASN	2194	hgsc.bcm.edu	37	chr17	80042498	80042498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcaggtgggctgggcAtggcgcagcgaggagcagac	20	10	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr17:80042498A>C	ENST00000306749.2	-	27	4877	c.4659T>G	c.(4657-4659)caT>caG	p.H1553Q	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1553					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGGGCTGGGCATGGCGCAGCG	0.662																																					p.H1553Q	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.T4659G						.						36	35	35					17																	80042498		2184	4295	6479	SO:0001583	missense	2194	exon27			CTGGGCATGGCGC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4659T>G	17.37:g.80042498A>C	ENSP00000304592:p.His1553Gln	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	195	26	NM_004104	0	0	81	81	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	7.805	0.714479	0.15306	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.25250	1.81	4.5	-3.53	0.04667	Polyketide synthase, enoylreductase (1);	0.111909	0.64402	D	0.000013	T	0.07818	0.0196	N	0.01242	-0.935	0.37105	D	0.90005	B	0.25351	0.124	B	0.20767	0.031	T	0.15954	-1.0419	10	0.42905	T	0.14	-27.2261	13.0182	0.58771	0.4491:0.0:0.5509:0.0	.	1553	P49327	FAS_HUMAN	Q	1553;518	ENSP00000304592:H1553Q	ENSP00000304592:H1553Q	H	-	3	2	FASN	77635787	0.005000	0.15991	0.000000	0.03702	0.218000	0.24690	-1.393000	0.02521	-0.538000	0.06281	-0.856000	0.03024	CAT	.		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		C	80042498	A	C	80042498	3	2	55	1	0	0	0	0	1	0	0	0	5705	214	8	5	2944	5	FASN	17	80042498	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	3369	80042498	1152712	130	11703											
KISS1R	84634	hgsc.bcm.edu	37	chr19	920642	920642	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccccacacgcggagctgcTccgcctggggtcccacccgg	13	19	0	0	rs350132	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:920642T>A	ENST00000234371.5	+	5	1244	c.1091T>A	c.(1090-1092)cTc>cAc	p.L364H	KISS1R_ENST00000606939.1_3'UTR	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	364			L -> H (in dbSNP:rs350132). {ECO:0000269|PubMed:11385580, ECO:0000269|PubMed:11414709, ECO:0000269|PubMed:11457843, ECO:0000269|PubMed:14573733, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15598687, ECO:0000269|Ref.8}.		activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGAGCTGCTCCGCCTGGGG	0.816													a|||	3926	0.783946	0.916	0.6988	5008	,	,		7496	0.7589		0.7485	False		,,,				2504	0.728				p.L364H		.											.	KISS1R-91	0			c.T1091A						.						1	2	1					19																	920642		976	2331	3307	SO:0001583	missense	84634	exon5			AGCTGCTCCGCCT	AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"GPCR / Class A : RF amide peptide receptors"	4510	protein-coding gene	gene with protein product		604161	"G protein-coupled receptor 54"	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.1091T>A	19.37:g.920642T>A	ENSP00000234371:p.Leu364His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_032551	0	0	0	3	3	A5D8U2|B2RTV1|Q96QG0	Missense_Mutation	SNP	ENST00000234371.5	37	CCDS12049.1	1676	0.7673992673992674	432	0.8780487804878049	253	0.6988950276243094	435	0.7604895104895105	556	0.7335092348284961	N	2.523	-0.310400	0.05458	.	.	ENSG00000116014	ENST00000234371	T	0.71579	-0.58	4.36	-0.607	0.11615	.	0.579379	0.14719	N	0.302432	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	9	0.13108	T	0.6	.	0.8843	0.01241	0.3667:0.1686:0.3009:0.1639	rs350132;rs3746148	364	Q969F8	KISSR_HUMAN	H	364	ENSP00000234371:L364H	ENSP00000234371:L364H	L	+	2	0	KISS1R	871642	0.000000	0.05858	0.075000	0.20258	0.190000	0.23558	-1.559000	0.02162	-0.349000	0.08274	-0.385000	0.06624	CTC	T|0.232;A|0.768		0.816	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458217.3	NM_032551		A	920642	T	A	920642	3	1	55	1	0	0	0	0	1	0	0	0	8355	1551	54	5	1109	5	KISS1R	19	920642	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10		920642	58208341	131	11704											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000539243.2_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_019112	0	0	4	7	3	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	55	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	144402	1065044	58063939	132	11705											
SH3GL1	6455	broad.mit.edu	37	chr19	4361787	4361787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagctcggctggtccAggggcgctgggggcgggagc	20	12	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:4361787A>C	ENST00000269886.3	-	10	1095	c.917T>G	c.(916-918)cTg>cGg	p.L306R	SH3GL1_ENST00000598564.1_Missense_Mutation_p.L242R|SH3GL1_ENST00000417295.2_Missense_Mutation_p.L258R|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	306	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		CGGCTGGTCCAGGGGCGCTGG	0.687			T	MLL	AL																																p.L306R	NSCLC(94;1152 2133 30346 33362)	.		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	.	SH3GL1-659	0			c.T917G						.						32	30	31					19																	4361787		2203	4297	6500	SO:0001583	missense	6455	exon10			TGGTCCAGGGGCG		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.917T>G	19.37:g.4361787A>C	ENSP00000269886:p.Leu306Arg	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	52	7	NM_003025	0	0	2	4	2	B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532159	0.27387	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.31769	1.48;1.48	3.9	3.9	0.45041	Src homology-3 domain (2);	0.276964	0.29783	N	0.011212	T	0.17323	0.0416	N	0.14661	0.345	0.58432	D	0.999997	B;B;B	0.12013	0.001;0.005;0.005	B;B;B	0.12837	0.008;0.006;0.006	T	0.06232	-1.0838	10	0.17832	T	0.49	-0.3252	12.042	0.53458	1.0:0.0:0.0:0.0	.	258;306;306	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	R	306;258	ENSP00000269886:L306R;ENSP00000404568:L258R	ENSP00000269886:L306R	L	-	2	0	SH3GL1	4312787	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.354000	0.59417	1.624000	0.50355	0.418000	0.28097	CTG	.		0.687	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		C	4361787	A	C	4361787	3	2	55	1	0	0	0	0	1	0	0	0	14295	188	7	5	193	5	SH3GL1	19	4361787	Missense_Mutation	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	3296743	4361787	54767196	133	11706											
LASS4	79603	broad.mit.edu	37	chr19	8316107	8316107	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcccctggcgctggtcctCctggccatgcgccttgcctt	11	18	0	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:8316107C>T	ENST00000251363.5	+	3	447	c.147C>T	c.(145-147)ctC>ctT	p.L49L	CERS4_ENST00000559450.1_Silent_p.L49L|CERS4_ENST00000558331.1_5'UTR|CERS4_ENST00000559336.1_Silent_p.L49L|CERS4_ENST00000595722.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	49					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CGCTGGTCCTCCTGGCCATGC	0.622																																					p.L49L		.											.	.	0			c.C147T						.						112	114	113					19																	8316107		2203	4300	6503	SO:0001819	synonymous_variant	79603	exon3			GGTCCTCCTGGCC		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.147C>T	19.37:g.8316107C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	115	5	NM_024552	0	0	17	18	1	D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																			.		0.622	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		T	8316107	C	T	8316107	2	4	55	1	0	0	0	0	0	0	0	1	8669	842	30	3		3	LASS4	19	8316107	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	3954320	8316107	50812876	134	11707											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9066010	9066010	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtgaactggttacaagttCtgggcttgtgtgtaacatgt	13	5	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:9066010C>G	ENST00000397910.4	-	3	21639	c.21436G>C	c.(21436-21438)Gaa>Caa	p.E7146Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7148	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						GTTACAAGTTCTGGGCTTGTG	0.502																																					p.E7146Q		.											.	MUC16-566	0			c.G21436C						.						205	187	193					19																	9066010		2068	4207	6275	SO:0001583	missense	94025	exon3			CAAGTTCTGGGCT	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.21436G>C	19.37:g.9066010C>G	ENSP00000381008:p.Glu7146Gln	Somatic	326	0		WXS	Illumina GAIIx	Phase_I	489	216	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.868	0.161352	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.32515	1.45	2.6	0.392	0.16288	.	.	.	.	.	T	0.30916	0.0780	L	0.47716	1.5	.	.	.	P	0.50710	0.938	P	0.50049	0.629	T	0.38887	-0.9640	8	0.87932	D	0	.	4.758	0.13093	0.0:0.6873:0.0:0.3127	.	7146	B5ME49	.	Q	7146	ENSP00000381008:E7146Q	ENSP00000381008:E7146Q	E	-	1	0	MUC16	8927010	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.237000	0.08990	0.168000	0.19655	0.400000	0.26472	GAA	.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9066010	C	G	9066010	3	3	55	1	0	0	0	0	1	0	0	0	10011	922	32	3	22415	3	MUC16	19	9066010	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	749903	9066010	50062973	135	11708											
LDLR	3949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11234004	11234004	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcaccacggtggagatagtGacaatgtctcaccaaggtaa	10	10	2	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:11234004G>C	ENST00000558518.1	+	15	2482	c.2295G>C	c.(2293-2295)gtG>gtC	p.V765V	LDLR_ENST00000455727.2_Silent_p.V597V|LDLR_ENST00000545707.1_Silent_p.V587V|LDLR_ENST00000535915.1_Silent_p.V724V|LDLR_ENST00000557933.1_Silent_p.V765V|LDLR_ENST00000558013.1_Silent_p.V765V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	765	Clustered O-linked oligosaccharides.				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)			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)	TGGAGATAGTGACAATGTCTC	0.612																																					p.V765V	GBM(18;201 575 7820 21545)	.											.	LDLR-94	0			c.G2295C						.						83	70	74					19																	11234004		2203	4300	6503	SO:0001819	synonymous_variant	3949	exon15			GATAGTGACAATG	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.2295G>C	19.37:g.11234004G>C		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	134	27	NM_001195798	0	0	343	474	131	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	CCDS12254.1																																																																																			.		0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11234004	G	C	11234004	2	2	55	1	0	0	0	0	0	0	0	1	8732	1277	45	3		3	LDLR	19	11234004	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	2167994	11234004	47894979	136	11709											
RNASEH2A	10535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12918306	12918306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatgcattggaccagggcGtgaacgtcacccaggtgagt	14	9	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:12918306G>T	ENST00000221486.4	+	4	491	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	133					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.V133M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGACCAGGGCGTGAACGTCAC	0.493																																					p.V133L		.											.	RNASEH2A-524	1	Substitution - Missense(1)	large_intestine(1)	c.G397T						.						130	113	119					19																	12918306		2203	4300	6503	SO:0001583	missense	10535	exon4			CAGGGCGTGAACG	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.397G>T	19.37:g.12918306G>T	ENSP00000221486:p.Val133Leu	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	296	134	NM_006397	0	0	13	25	12	B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676821	0.67928	.	.	ENSG00000104889	ENST00000221486	D	0.87334	-2.24	4.8	4.8	0.61643	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.067299	0.64402	N	0.000018	D	0.85164	0.5634	L	0.48174	1.505	0.80722	D	1	B	0.18610	0.029	B	0.31016	0.123	T	0.82741	-0.0307	10	0.49607	T	0.09	-15.5002	15.3366	0.74260	0.0:0.0:1.0:0.0	.	133	O75792	RNH2A_HUMAN	L	133	ENSP00000221486:V133L	ENSP00000221486:V133L	V	+	1	0	RNASEH2A	12779306	1.000000	0.71417	0.983000	0.44433	0.927000	0.56198	8.500000	0.90498	2.194000	0.70268	0.505000	0.49811	GTG	.		0.493	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		T	12918306	G	T	12918306	3	4	55	1	0	0	0	0	1	0	0	0	13457	1145	40	2	411	2	RNASEH2A	19	12918306	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1684302	12918306	46210677	137	11710											
RAD23A	5886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13063541	13063541	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcagttcatccagatgctGaacgagccccctggggagct	13	12	1	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:13063541G>A	ENST00000586534.1	+	8	913	c.852G>A	c.(850-852)ctG>ctA	p.L284L	RAD23A_ENST00000541222.1_Silent_p.L119L|RAD23A_ENST00000316856.3_Silent_p.L283L|RAD23A_ENST00000592268.1_Intron			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	284					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCCAGATGCTGAACGAGCCCC	0.627								Nucleotide excision repair (NER)																													p.L284L		.											.	RAD23A-227	0			c.G852A						.						36	39	38					19																	13063541		2203	4300	6503	SO:0001819	synonymous_variant	5886	exon8			GATGCTGAACGAG		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.852G>A	19.37:g.13063541G>A		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	151	36	NM_005053	0	0	122	187	65	K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	CCDS12289.1																																																																																			.		0.627	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		A	13063541	G	A	13063541	2	1	55	1	0	0	0	0	0	0	0	1	13027	1277	45	3		3	RAD23A	19	13063541	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	145235	13063541	46065442	138	11711											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_012088	0	0	0	18	18		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	55	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	4559073	17622614	41506369	139	11712											
KIAA0892	23383	hgsc.bcm.edu	37	chr19	19431690	19431704	+	In_Frame_Del	DEL	GCGGCCCAGGCGGCG	GCGGCCCAGGCGGCG	-													tggcggctcaggcggcggcaGcggcccaggcggcggcggcc					rs553682593|rs375425486|rs550594758	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	GCGGCCCAGGCGGCG	GCGGCCCAGGCGGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:19431690_19431704delGCGGCCCAGGCGGCG	ENST00000392313.6	+	1	201_215	c.22_36delGCGGCCCAGGCGGCG	c.(22-36)gcggcccaggcggcgdel	p.AAQAA13del	MAU2_ENST00000262815.8_In_Frame_Del_p.AAQAA13del|SUGP1_ENST00000585763.1_5'Flank|SUGP1_ENST00000247001.5_5'Flank|SUGP1_ENST00000334782.5_5'Flank	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	13	Ala-rich.|Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ggcggcggcagcggcccaggcggcggcggcccagg	0.735																																					p.8_12del		.											.	MAU2-91	0			c.22_36del						.			89,1901		39,11,945						-8.2	0.6			3	148,4936		53,42,2447	no	coding	MAU2	NM_015329.3		92,53,3392	A1A1,A1R,RR		2.9111,4.4724,3.3503				237,6837				SO:0001651	inframe_deletion	23383	exon1			GCGGCAGCGGCCC	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.22_36delGCGGCCCAGGCGGCG	19.37:g.19431690_19431704delGCGGCCCAGGCGGCG	ENSP00000376127:p.Ala13_Ala17del	Somatic	4	3		WXS	Illumina GAIIx	Phase_I	49	35	NM_015329	0	0	0	0	0	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	In_Frame_Del	DEL	ENST00000392313.6	37	CCDS32969.2																																																																																			.		0.735	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		-	19431704	GCGGCCCAGGCGGCG	-	19431690	7	5	55	1	0	1	0	1	0	0	0	0	8223	971	34	0	24	0	KIAA0892	19	19431690	In_Frame_Del	DEL	GCGGCCCAGGCGGCG	TCGA-OR-A5LO-01A-11D-A29I-10	1809076	19431690	39697293	140	11713											
MEGF8	1954	broad.mit.edu	37	chr19	42867198	42867198	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccccgtgccccacccccAggggagacccgccgcatcct	9	21	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:42867198A>G	ENST00000251268.6	+	35	6058		c.e35-1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCACCCCCAGGGGAGACCC	0.647																																					.		.											.	MEGF8-23	0			c.6059-2A>G						.						48	47	48					19																	42867198		2203	4299	6502	SO:0001630	splice_region_variant	1954	exon35			ACCCCCAGGGGAG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6059-1A>G	19.37:g.42867198A>G		Somatic	105	3		WXS	Illumina GAIIx	Phase_I	145	8	NM_001271938	0	0	0	0	0	A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	A	17.01	3.280451	0.59758	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2039	0.65721	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47559038	1.000000	0.71417	0.940000	0.37924	0.497000	0.33675	8.203000	0.89739	2.067000	0.61834	0.416000	0.27883	.	.		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Intron	G	42867198	A	G	42867198	5	3	55	1	0	0	0	0	0	0	1	0	9501	202	7	4	5990	4	MEGF8	19	42867198	Splice_Site	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	23435508	42867198	16261785	141	11714											
ZFP112	7771	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	44832623	44832623	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggactctctgatgggcttGaagatatgaactccgactga	12	8	1	5			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:44832623G>C	ENST00000337401.4	-	5	1793	c.1705C>G	c.(1705-1707)Caa>Gaa	p.Q569E	ZNF112_ENST00000354340.4_Missense_Mutation_p.Q563E|ZNF112_ENST00000536500.1_Missense_Mutation_p.Q586E	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGATGGGCTTGAAGATATGAA	0.428																																					p.Q569E		.											.	ZFP112-95	0			c.C1705G						.						153	157	156					19																	44832623		2203	4300	6503	SO:0001583	missense	7771	exon5			GGGCTTGAAGATA	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.1705C>G	19.37:g.44832623G>C	ENSP00000337081:p.Gln569Glu	Somatic	74	1		WXS	Illumina GAIIx	Phase_I	108	13	NM_001083335	0	0	11	14	3	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703758	0.15172	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.38560	1.13;1.13;1.13	5.1	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33005	N	0.005388	T	0.27241	0.0668	N	0.20357	0.565	0.09310	N	1	B;P;B	0.35714	0.398;0.517;0.398	B;B;B	0.44085	0.44;0.313;0.44	T	0.09907	-1.0653	10	0.22109	T	0.4	-10.7358	3.334	0.07094	0.0946:0.2467:0.5044:0.1544	.	568;586;569	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	E	569;569;563;586;568	ENSP00000337081:Q569E;ENSP00000346305:Q563E;ENSP00000441990:Q586E	ENSP00000253426:Q568E	Q	-	1	0	ZNF285	49524463	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.431000	0.06965	2.541000	0.85698	0.655000	0.94253	CAA	.		0.428	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		C	44832623	G	C	44832623	3	2	55	1	0	0	0	0	1	0	0	0	17686	1299	45	3	1040	3	ZFP112	19	44832623	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1965425	44832623	14296360	142	11715											
ERCC2	2068	hgsc.bcm.edu	37	chr19	45867259	45867259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccctgcagcacttcgtCgggcagcacggggttggcca	13	15	1	0	rs1799793	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:45867259C>T	ENST00000391945.4	-	10	1011	c.934G>A	c.(934-936)Gac>Aac	p.D312N	ERCC2_ENST00000485403.2_Missense_Mutation_p.D288N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.D234N|ERCC2_ENST00000391940.4_Missense_Mutation_p.D288N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	312			D -> N (in dbSNP:rs1799793). {ECO:0000269|PubMed:11245433, ECO:0000269|PubMed:11470747, ECO:0000269|PubMed:11709541, ECO:0000269|Ref.3}.		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)		AGCACTTCGTCGGGCAGCACG	0.746			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	974	0.194489	0.0734	0.1988	5008	,	,		10423	0.0496		0.3588	False		,,,				2504	0.3354				p.D312N		.	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	.	ERCC2-848	0			c.G934A	GRCh37	CM015299	ERCC2	M	rs1799793	.	C	ASN/ASP,ASN/ASP	387,3577		30,327,1625	5	8	7		934,862	5.2	0.5	19	dbSNP_89	7	2507,5397		444,1619,1889	no	missense,missense	ERCC2	NM_000400.3,NM_001130867.1	23,23	474,1946,3514	TT,TC,CC		31.7181,9.7629,24.3849	benign,benign	312/761,288/406	45867259	2894,8974	1982	3952	5934	SO:0001583	missense	2068	exon10	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	CTTCGTCGGGCAG		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.934G>A	19.37:g.45867259C>T	ENSP00000375809:p.Asp312Asn	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_000400	0	0	12	23	11	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	423	0.1936813186813187	34	0.06910569105691057	70	0.19337016574585636	38	0.06643356643356643	281	0.370712401055409	C	20.0	3.930510	0.73327	0.097629	0.317181	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.64438	-0.1;-0.1;-0.1	5.15	5.15	0.70609	Domain of unknown function DUF1227 (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.46947	1.48	0.09310	P	1.0	B;P;B	0.34639	0.065;0.461;0.053	B;B;B	0.35353	0.059;0.201;0.051	T	0.28267	-1.0049	9	0.33940	T	0.23	-30.0006	16.1268	0.81402	0.0:1.0:0.0:0.0	rs1799793;rs3916814;rs58989209;rs1799793	234;288;312	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	N	262;288;312;234;288	ENSP00000375809:D312N;ENSP00000375808:D234N;ENSP00000375804:D288N	ENSP00000375804:D288N	D	-	1	0	ERCC2	50559099	1.000000	0.71417	0.523000	0.27875	0.865000	0.49528	7.192000	0.77771	2.388000	0.81334	0.561000	0.74099	GAC	C|0.804;T|0.196		0.746	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45867259	C	T	45867259	3	4	55	1	0	0	0	0	1	0	0	0	5229	884	31	1	1461	1	ERCC2	19	45867259	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	1034636	45867259	13261724	143	11716											
GIPR	2696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	46176189	46176189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatacacaatgtgagaacCcagagaagaatgaggccttt	9	9	0	4			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:46176189C>T	ENST00000590918.1	+	5	460	c.361C>T	c.(361-363)Cca>Tca	p.P121S	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.P121S|GIPR_ENST00000304207.8_Missense_Mutation_p.P85S	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	121					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATGTGAGAACCCAGAGAAGAA	0.537																																					p.P121S		.											.	GIPR-523	0			c.C361T						.						109	94	99					19																	46176189		2203	4300	6503	SO:0001583	missense	2696	exon5			GAGAACCCAGAGA		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.361C>T	19.37:g.46176189C>T	ENSP00000467494:p.Pro121Ser	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	151	30	NM_000164	0	0	0	0	0	B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296302	0.10622	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.56776	0.44;0.6	4.81	4.81	0.61882	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.49916	D	0.000124	T	0.47838	0.1467	L	0.28274	0.84	0.37216	D	0.905003	B;D;B	0.57257	0.232;0.979;0.057	B;P;B	0.55508	0.113;0.777;0.113	T	0.40646	-0.9552	10	0.06494	T	0.89	.	13.25	0.60045	0.0:1.0:0.0:0.0	.	85;121;121	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	S	121;85	ENSP00000263281:P121S;ENSP00000305321:P85S	ENSP00000263281:P121S	P	+	1	0	GIPR	50868029	0.973000	0.33851	1.000000	0.80357	0.929000	0.56500	1.726000	0.38085	2.504000	0.84457	0.561000	0.74099	CCA	.		0.537	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			T	46176189	C	T	46176189	3	4	55	1	0	0	0	0	1	0	0	0	6421	623	22	3	375	3	GIPR	19	46176189	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	308930	46176189	12952794	144	11717											
SLC1A5	6510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	47278856	47278856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttccttcctcagtggGgactggcagcggatccaggg	17	10	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:47278856G>C	ENST00000542575.2	-	8	2165	c.1537C>G	c.(1537-1539)Ccc>Gcc	p.P513A	SLC1A5_ENST00000412532.2_Missense_Mutation_p.P285A|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.P311A|SLC1A5_ENST00000594991.1_Missense_Mutation_p.P337A	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	513					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCCTCAGTGGGGACTGGCAGC	0.582																																					p.P513A		.											.	SLC1A5-90	0			c.C1537G						.						144	144	144					19																	47278856		2203	4300	6503	SO:0001583	missense	6510	exon8			CAGTGGGGACTGG	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1537C>G	19.37:g.47278856G>C	ENSP00000444408:p.Pro513Ala	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	112	17	NM_005628	0	0	0	0	0	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	10.14	1.268107	0.23136	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.61859	0.89;0.07;0.08	4.58	-0.278	0.12894	.	0.509628	0.19842	N	0.104825	T	0.23249	0.0562	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.17379	-1.0371	10	0.07644	T	0.81	-15.7083	3.6723	0.08279	0.0811:0.2624:0.4031:0.2534	.	311;513;513	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	A	513;311;285;520	ENSP00000444408:P513A;ENSP00000406532:P311A;ENSP00000397924:P285A	ENSP00000303623:P520A	P	-	1	0	SLC1A5	51970696	0.000000	0.05858	0.006000	0.13384	0.438000	0.31896	-0.469000	0.06648	0.210000	0.20664	-0.284000	0.09977	CCC	.		0.582	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			C	47278856	G	C	47278856	3	2	55	1	0	0	0	0	1	0	0	0	14480	1232	43	3	92	3	SLC1A5	19	47278856	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1102667	47278856	11850127	145	11718											
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48184063	48184063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcacatcctctccgccgctCccatccaggtgggccagcct	9	20	1	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:48184063C>T	ENST00000396720.3	+	6	1830	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	546										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)		CTCCGCCGCTCCCATCCAGGT	0.751																																					p.P546S		.											.	GLTSCR1-48	0			c.C1636T						.						14	17	16					19																	48184063		1785	3878	5663	SO:0001583	missense	29998	exon6			GCCGCTCCCATCC	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.1636C>T	19.37:g.48184063C>T	ENSP00000379946:p.Pro546Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	49	9	NM_015711	0	0	2	2	0	A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419190	0.25552	.	.	ENSG00000063169	ENST00000396720	T	0.76448	-1.02	4.57	4.57	0.56435	.	.	.	.	.	T	0.81230	0.4779	L	0.43152	1.355	0.45837	D	0.998709	D	0.76494	0.999	D	0.63033	0.91	T	0.81095	-0.1088	9	0.46703	T	0.11	.	12.4212	0.55522	0.0:0.8302:0.1698:0.0	.	546	Q9NZM4	GSCR1_HUMAN	S	546	ENSP00000379946:P546S	ENSP00000379946:P546S	P	+	1	0	GLTSCR1	52875875	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	5.423000	0.66458	2.249000	0.74217	0.462000	0.41574	CCC	.		0.751	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		T	48184063	C	T	48184063	3	4	55	1	0	0	0	0	1	0	0	0	6500	855	30	3	1650	3	GLTSCR1	19	48184063	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	905207	48184063	10944920	146	11719											
HRC	3270	hgsc.bcm.edu	37	chr19	49657889	49657889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcagtggaggcctcctcTtcctcctcctcctcctcctc	5	20	2	0	rs57199624|rs147238387|rs551367394|rs542091249		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:49657889T>C	ENST00000252825.4	-	1	792	c.606A>G	c.(604-606)gaA>gaG	p.E202E	HRC_ENST00000595625.1_Silent_p.E202E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	202	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGcctcctcttcctcctcct	0.567																																					p.E202E	Melanoma(37;75 1097 24567 25669 30645)	.											.	HRC-91	0			c.A606G						.						122	91	101					19																	49657889		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCCTCTTCCTCC		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.606A>G	19.37:g.49657889T>C		Somatic	73	0		WXS	Illumina GAIIx	Phase_I	110	5	NM_002152	0	0	0	0	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			.		0.567	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657889	T	C	49657889	2	2	55	1	0	0	0	0	0	0	0	1	7379	1606	56	4		4	HRC	19	49657889	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	1473826	49657889	9471094	147	11720											
HRC	3270	hgsc.bcm.edu	37	chr19	49657916	49657916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcTtctccttcatcatcttcccc	0	23	5	0	rs7409255		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:49657916T>C	ENST00000252825.4	-	1	765	c.579A>G	c.(577-579)gaA>gaG	p.E193E	HRC_ENST00000595625.1_Silent_p.E193E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	193	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcttcTCCTTCAT	0.557																																					p.E193E	Melanoma(37;75 1097 24567 25669 30645)	.											.	HRC-91	0			c.A579G						.						119	95	103					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCCTCTTCTCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.579A>G	19.37:g.49657916T>C		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	100	6	NM_002152	0	0	0	0	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			.		0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657916	T	C	49657916	2	2	55	1	0	0	0	0	0	0	0	1	7379	1606	56	4		4	HRC	19	49657916	Silent	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	27	49657916	9471067	148	11721											
ZNF83	55769	bcgsc.ca	37	chr19	53116855	53116856	+	Missense_Mutation	DNP	CT	CT	TA													tgactgaagaccttgccacaCtcattacatttgtaaggttt					rs199873537|rs7247359		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:53116855_53116856CT>TA	ENST00000597597.1	-	2	3215_3216	c.962_963AG>TA	c.(961-963)gAG>gTA	p.E321V	ZNF83_ENST00000391789.4_Missense_Mutation_p.E293V|ZNF83_ENST00000544146.1_Missense_Mutation_p.E321V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.E321V|ZNF83_ENST00000536937.1_Missense_Mutation_p.E321V|ZNF83_ENST00000545872.1_Missense_Mutation_p.E321V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.E321V|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CCTTGCCACACTCATTACATTT	0.411																																					p.E321V		.											.	ZNF83-91	0			c.A962T						.																																			SO:0001583	missense	55769	exon3			CCACACTCATTAC	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.962_963delinsTA	19.37:g.53116855_53116856delinsTA	ENSP00000472619:p.Glu321Val	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	192	0	NM_018300	0	0	0	0	0	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	DNP	ENST00000597597.1	37	CCDS12854.1																																																																																			.		0.411	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		TA	53116856	CT	TA	53116855	3	4	55	1	0	0	0	0	1	0	0	0	18231	564	20	3	591	3	ZNF83	19	53116855	Missense_Mutation	DNP	CT	TCGA-OR-A5LO-01A-11D-A29I-10	3458939	53116855	6012128	149	11722	110	2									
ZNF83	55769	bcgsc.ca	37	chr19	53116865	53116865	+	Missense_Mutation	SNP	T	T	C													ccttgccacactcattacatTtgtaaggtttctctccagta					rs141749555		TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:53116865T>C	ENST00000597597.1	-	2	3206	c.953A>G	c.(952-954)aAa>aGa	p.K318R	ZNF83_ENST00000391789.4_Missense_Mutation_p.K290R|ZNF83_ENST00000544146.1_Missense_Mutation_p.K318R|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.K318R|ZNF83_ENST00000536937.1_Missense_Mutation_p.K318R|ZNF83_ENST00000545872.1_Missense_Mutation_p.K318R|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.K318R|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCATTACATTTGTAAGGTTT	0.413																																					p.K318R		.											.	ZNF83-91	0			c.A953G						.						98	104	102					19																	53116865		2203	4300	6503	SO:0001583	missense	55769	exon3			TTACATTTGTAAG	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.953A>G	19.37:g.53116865T>C	ENSP00000472619:p.Lys318Arg	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	187	9	NM_018300	0	0	216	216	0	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	8.722	0.914503	0.17907	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	2.16	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	N	0.16201	0.385	0.09310	N	1	B;D	0.69078	0.017;0.997	B;D	0.81914	0.01;0.995	T	0.10706	-1.0618	9	0.54805	T	0.06	.	3.4318	0.07432	0.0:0.144:0.2323:0.6237	.	290;318	P51522-2;P51522	.;ZNF83_HUMAN	R	318;318;318;290;318;318;290	ENSP00000445993:K318R;ENSP00000301096:K318R;ENSP00000445470:K318R;ENSP00000440713:K318R;ENSP00000439681:K318R;ENSP00000375666:K290R	ENSP00000301096:K318R	K	-	2	0	ZNF83	57808677	0.000000	0.05858	0.706000	0.30403	0.082000	0.17680	-0.250000	0.08830	0.101000	0.17610	-0.540000	0.04249	AAA	T|1.000;C|0.000		0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		C	53116865	T	C	53116865	3	2	55	1	0	0	0	0	1	0	0	0	18231	1841	64	4	601	4	ZNF83	19	53116865	Missense_Mutation	SNP	T	TCGA-OR-A5LO-01A-11D-A29I-10	10	53116865	6012118	150	11723	110	2									
NLRP12	91662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54313435	54313435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgttcatgttgaggaagGcagagacgtcttccccgtct	12	9	3	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:54313435G>A	ENST00000324134.6	-	3	1646	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	NLRP12_ENST00000345770.5_Missense_Mutation_p.A493V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A493V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A493V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A493V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A493V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A493V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A493V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	493	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTGAGGAAGGCAGAGACGTC	0.502																																					p.N493I		.											.	NLRP12-211	0			c.A1478T						.						121	121	121					19																	54313435		2203	4300	6503	SO:0001583	missense	91662	exon3			AGGAAGGCAGAGA	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1478C>T	19.37:g.54313435G>A	ENSP00000319377:p.Ala493Val	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	257	41	NM_144687	0	0	0	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718411	0.30503	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.43	4.43	0.53597	NACHT nucleoside triphosphatase (1);	0.449473	0.16320	N	0.219616	T	0.66025	0.2748	L	0.28344	0.845	0.80722	D	1	P;P;P;P	0.42456	0.78;0.657;0.78;0.709	B;B;B;B	0.40901	0.335;0.255;0.335;0.343	T	0.63721	-0.6573	10	0.30854	T	0.27	.	10.9758	0.47465	0.0:0.19:0.81:0.0	.	493;493;493;493	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	493	ENSP00000319377:A493V;ENSP00000438030:A493V;ENSP00000340473:A493V;ENSP00000346231:A493V;ENSP00000375655:A493V;ENSP00000375653:A493V;ENSP00000375652:A493V	ENSP00000319377:A493V	A	-	2	0	NLRP12	59005247	0.767000	0.28508	0.892000	0.35008	0.399000	0.30720	1.476000	0.35420	2.185000	0.69588	0.485000	0.47835	GCC	.		0.502	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54313435	G	A	54313435	3	1	55	1	0	0	0	0	1	0	0	0	10513	1203	42	3	1835	3	NLRP12	19	54313435	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1196570	54313435	4815548	151	11724											
NLRP9	338321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56226564	56226564	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcggaaatggagtcacaggaGacagaggtgagacagcagta	15	6	1	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:56226564G>C	ENST00000332836.2	-	6	2385	c.2358C>G	c.(2356-2358)gtC>gtG	p.V786V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	786						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGTCACAGGAGACAGAGGTGA	0.512																																					p.V786V		.											.	NLRP9-294	0			c.C2358G						.						120	97	105					19																	56226564		2201	4293	6494	SO:0001819	synonymous_variant	338321	exon6			ACAGGAGACAGAG	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2358C>G	19.37:g.56226564G>C		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	170	30	NM_176820	0	0	0	0	0	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																			.		0.512	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		C	56226564	G	C	56226564	2	2	55	1	0	0	0	0	0	0	0	1	10523	929	33	3		3	NLRP9	19	56226564	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	1913129	56226564	2902419	152	11725											
ZNF135	7694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58579299	58579299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagcacacacctcaccCaacaccagcgaatccacaca	6	18	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr19:58579299C>A	ENST00000313434.5	+	5	1548	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	ZNF135_ENST00000511556.1_Missense_Mutation_p.Q495K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.Q483K|ZNF135_ENST00000506786.1_Missense_Mutation_p.Q441K|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.Q507K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	483					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)		ACACCTCACCCAACACCAGCG	0.567																																					p.Q507K		.											.	ZNF135-91	0			c.C1519A						.						95	84	88					19																	58579299		2203	4300	6503	SO:0001583	missense	7694	exon4			CTCACCCAACACC	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.1447C>A	19.37:g.58579299C>A	ENSP00000321406:p.Gln483Lys	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	204	44	NM_007134	0	0	0	0	0	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412374	0.01145	.	.	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	2.99	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	N	0.02169	-0.655	0.09310	N	1	P;P	0.42078	0.77;0.647	P;P	0.49887	0.625;0.593	T	0.25779	-1.0122	9	0.06494	T	0.89	.	10.2671	0.43462	0.0:0.6677:0.3323:0.0	.	495;483	E9PEV2;P52742	.;ZN135_HUMAN	K	507;483;483;495;441	ENSP00000441410:Q507K;ENSP00000444828:Q483K;ENSP00000321406:Q483K;ENSP00000422074:Q495K;ENSP00000427691:Q441K	ENSP00000321406:Q483K	Q	+	1	0	ZNF135	63271111	0.000000	0.05858	0.497000	0.27552	0.025000	0.11179	-1.088000	0.03379	1.676000	0.50930	0.557000	0.71058	CAA	.		0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		A	58579299	C	A	58579299	3	1	55	1	0	0	0	0	1	0	0	0	17773	595	21	3	1650	3	ZNF135	19	58579299	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	2352735	58579299	549684	153	11726											
PAK7	57144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	9538346	9538346	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagagagctctcagaactGacaggcagacagtagctatc	12	9	1	4			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr20:9538346G>T	ENST00000378429.3	-	8	2198	c.1652C>A	c.(1651-1653)tCa>tAa	p.S551*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.S551*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.S551*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTCAGAACTGACAGGCAGAC	0.423																																					p.S551X		.											.	PAK7-1434	0			c.C1652A						.						137	119	125					20																	9538346		2203	4300	6503	SO:0001587	stop_gained	57144	exon7			AGAACTGACAGGC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1652C>A	20.37:g.9538346G>T	ENSP00000367686:p.Ser551*	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	73	29	NM_177990	0	0	0	1	1	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	42	9.601142	0.99216	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8171	0.96573	0.0:0.0:1.0:0.0	.	.	.	.	X	551;551;551;499	.	.	S	-	2	0	PAK7	9486346	1.000000	0.71417	0.977000	0.42913	0.974000	0.67602	9.869000	0.99810	2.678000	0.91216	0.643000	0.83706	TCA	.		0.423	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			T	9538346	G	T	9538346	4	4	55	1	0	0	0	0	0	1	0	0	11444	1294	45	3	523	3	PAK7	20	9538346	Nonsense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		9538346	53487174	154	11727											
PRIC285	85441	bcgsc.ca	37	chr20	62198662	62198662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggtgccgtgcgaggcAtaggccagcggggtgagggc	22	9	0	1	rs367440	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr20:62198662A>G	ENST00000467148.1	-	6	2118	c.2049T>C	c.(2047-2049)taT>taC	p.Y683Y	HELZ2_ENST00000427522.2_Silent_p.Y114Y|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	683	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGTGCGAGGCATAGGCCAGCG	0.701													G|||	4686	0.935703	0.9062	0.9092	5008	,	,		14522	0.999		0.8767	False		,,,				2504	0.9898				p.Y683Y		.											.	.	0			c.T2049C						.	G	,	3905,393		1773,359,17	13	17	15		2049,342	-5	0	20	dbSNP_80	15	7595,809		3439,717,46	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	5212,1076,63	GG,GA,AA		9.6264,9.1438,9.4631	,	683/2650,114/2081	62198662	11500,1202	2149	4202	6351	SO:0001819	synonymous_variant	85441	exon7			CGAGGCATAGGCC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2049T>C	20.37:g.62198662A>G		Somatic	16	1		WXS	Illumina GAIIx	Phase_I	68	61	NM_001037335	0	0	1	1	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																			A|0.084;G|0.916		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62198662	A	G	62198662	2	3	55	1	0	0	0	0	0	0	0	1	12527	224	8	4		4	PRIC285	20	62198662	Silent	SNP	A	TCGA-OR-A5LO-01A-11D-A29I-10	52660316	62198662	826858	155	11728											
DSCR6	53820	broad.mit.edu;ucsc.edu	37	chr21	38390362	38390362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggaggtgggaggtcGgcaggaaaatggcccagggg	20	9	0	0	rs150799198	byFrequency	TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr21:38390362G>T	ENST00000329553.2	+	4	638	c.428G>T	c.(427-429)cGg>cTg	p.R143L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	143					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GTGGGAGGTCGGCAGGAAAAT	0.627																																					p.R143L		.											.	DSCR6-153	0			c.G428T						.						38	37	37					21																	38390362		2203	4300	6503	SO:0001583	missense	53820	exon4			GAGGTCGGCAGGA	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.428G>T	21.37:g.38390362G>T	ENSP00000331734:p.Arg143Leu	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	35	4	NM_018962	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	T	8.495	0.862844	0.17178	.	.	ENSG00000183145	ENST00000329553	.	.	.	3.4	-3.2	0.05156	.	2.938470	0.01542	N	0.019279	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04635	-1.0937	9	0.25106	T	0.35	0.0892	0.833	0.01134	0.2755:0.2891:0.2734:0.1621	.	143	P57055	DSCR6_HUMAN	L	143	.	ENSP00000331734:R143L	R	+	2	0	DSCR6	37312232	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.415000	0.01036	-1.416000	0.02019	-0.363000	0.07495	CGG	G|0.999;A|0.001		0.627	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			T	38390362	G	T	38390362	3	4	55	1	0	0	0	0	1	0	0	0	4787	1116	39	2	442	2	DSCR6	21	38390362	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		38390362	9739533	156	11729											
PDE9A	5152	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	44185575	44185575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagagaaaatggagaattttGactacagcaacgaggagcac	11	6	0	3			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr21:44185575G>C	ENST00000291539.6	+	15	1387	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	PDE9A_ENST00000328862.6_Missense_Mutation_p.D417H|PDE9A_ENST00000398224.3_Missense_Mutation_p.D316H|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.D341H|PDE9A_ENST00000398236.3_Missense_Mutation_p.D357H|PDE9A_ENST00000335512.4_Missense_Mutation_p.D383H|PDE9A_ENST00000380328.2_Missense_Mutation_p.D390H|PDE9A_ENST00000349112.3_Missense_Mutation_p.D315H|PDE9A_ENST00000398232.3_Missense_Mutation_p.D376H|PDE9A_ENST00000398229.3_Missense_Mutation_p.D309H|PDE9A_ENST00000398225.3_Missense_Mutation_p.D402H|PDE9A_ENST00000398234.3_Missense_Mutation_p.D342H|PDE9A_ENST00000398227.3_Missense_Mutation_p.D283H|PDE9A_ENST00000539837.1_Missense_Mutation_p.D315H	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	443	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)	GGAGAATTTTGACTACAGCAA	0.488																																					p.D443H		.											.	PDE9A-92	0			c.G1327C						.						95	85	89					21																	44185575		2203	4300	6503	SO:0001583	missense	5152	exon15			AATTTTGACTACA	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.1327G>C	21.37:g.44185575G>C	ENSP00000291539:p.Asp443His	Somatic	312	1		WXS	Illumina GAIIx	Phase_I	306	77	NM_002606	0	0	31	43	12	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	21.9	4.219497	0.79464	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	3.93	3.93	0.45458	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097482	0.64402	D	0.000002	D	0.90041	0.6890	M	0.86420	2.815	0.80722	D	1	P;D;D;P;D;D;D;D;D;P;P;D;D;D;P;D	0.71674	0.956;0.993;0.978;0.911;0.993;0.993;0.959;0.978;0.978;0.956;0.911;0.974;0.973;0.993;0.911;0.998	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;D	0.66084	0.649;0.861;0.753;0.649;0.887;0.857;0.697;0.649;0.753;0.649;0.572;0.687;0.711;0.753;0.649;0.941	D	0.92275	0.5828	10	0.72032	D	0.01	.	16.4974	0.84249	0.0:0.0:1.0:0.0	.	315;376;357;342;417;402;335;383;226;283;309;315;341;390;316;443	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	H	383;315;443;390;376;342;357;417;341;402;309;283;315;316	ENSP00000335242:D383H;ENSP00000441899:D315H;ENSP00000291539:D443H;ENSP00000369685:D390H;ENSP00000381287:D376H;ENSP00000381289:D342H;ENSP00000381291:D357H;ENSP00000328699:D417H;ENSP00000335365:D341H;ENSP00000381281:D402H;ENSP00000381285:D309H;ENSP00000381283:D283H;ENSP00000344730:D315H;ENSP00000381280:D316H	ENSP00000291539:D443H	D	+	1	0	PDE9A	43058644	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.943000	0.92975	2.189000	0.69895	0.514000	0.50259	GAC	.		0.488	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			C	44185575	G	C	44185575	3	2	55	1	0	0	0	0	1	0	0	0	11694	1290	45	3	1465	3	PDE9A	21	44185575	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	5795213	44185575	3944320	157	11730											
POFUT2	23275	broad.mit.edu;mdanderson.org	37	chr21	46707762	46707762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactgcccccagcagcaGgaagacgaagctgagtgtcg	14	12	0	2			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr21:46707762G>A	ENST00000349485.5	-	1	51	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	POFUT2_ENST00000331343.7_Silent_p.L9L|BX322557.10_ENST00000454115.2_RNA	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	9					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCCAGCAGCAGGAAGACGAAG	0.726																																					p.L9L		.											.	POFUT2-90	0			c.C25T						.						5	7	6					21																	46707762		2064	4047	6111	SO:0001819	synonymous_variant	23275	exon1			GCAGCAGGAAGAC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.25C>T	21.37:g.46707762G>A		Somatic	13	0		WXS	Illumina GAIIx	Phase_I	22	8	NM_015227	0	0	27	44	17	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	CCDS13719.1																																																																																			.		0.726	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		A	46707762	G	A	46707762	2	1	55	1	0	0	0	0	0	0	0	1	12223	991	35	3		3	POFUT2	21	46707762	Silent	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	2522187	46707762	1422133	158	11731											
OR11H1	81061	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	16449102	16449102	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caacatagctttcaggacaaGagtataggatccaataataa	7	7	1	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chr22:16449102G>C	ENST00000252835.4	-	1	703	c.703C>G	c.(703-705)Ctt>Gtt	p.L235V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	235						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(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTCAGGACAAGAGTATAGGAT	0.418																																					p.L235V		.											.	OR11H1-22	0			c.C703G						.						141	136	138					22																	16449102		2201	4297	6498	SO:0001583	missense	81061	exon1			GGACAAGAGTATA	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.703C>G	22.37:g.16449102G>C	ENSP00000252835:p.Leu235Val	Somatic	431	0		WXS	Illumina GAIIx	Phase_I	513	147	NM_001005239	0	0	0	0	0	Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	g	3.525	-0.096995	0.07010	.	.	ENSG00000130538	ENST00000252835	T	0.00130	8.69	1.73	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	N	0.002264	T	0.00178	0.0005	L	0.46614	1.455	0.09310	N	1	P	0.42483	0.781	P	0.47044	0.535	T	0.34329	-0.9833	10	0.42905	T	0.14	.	4.8457	0.13512	0.2164:0.0:0.7836:0.0	.	235	Q8NG94	O11H1_HUMAN	V	235	ENSP00000252835:L235V	ENSP00000252835:L235V	L	-	1	0	OR11H1	14829102	0.000000	0.05858	0.886000	0.34754	0.151000	0.21798	-0.274000	0.08537	0.917000	0.36895	0.368000	0.22195	CTT	T|1.000;|0.000		0.418	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		C	16449102	G	C	16449102	3	2	55	1	0	0	0	0	1	0	0	0	10965	942	33	3	279	3	OR11H1	22	16449102	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10		16449102	34855464	159	11732											
KLHL15	80311	hgsc.bcm.edu;bcgsc.ca	37	chrX	24006761	24006763	+	In_Frame_Del	DEL	ATC	ATC	-													tcagagcgtggtacagacatAtctgccatctgcagccagga							TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	ATC	ATC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:24006761_24006763delATC	ENST00000328046.8	-	4	1345_1347	c.1090_1092delGAT	c.(1090-1092)gatdel	p.D364del		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	364					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTACAGACATATCTGCCATCTGC	0.488																																					p.364_364del		.											.	KLHL15-131	0			c.1090_1092del						.																																			SO:0001651	inframe_deletion	80311	exon4			AGACATATCTGCC	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1090_1092delGAT	X.37:g.24006761_24006763delATC	ENSP00000332791:p.Asp364del	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	231	103	NM_030624	0	0	0	0	0	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	In_Frame_Del	DEL	ENST00000328046.8	37	CCDS35217.1																																																																																			.		0.488	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		-	24006763	ATC	-	24006761	7	5	55	1	0	1	0	1	0	0	0	0	8398	446	16	0	726	0	KLHL15	23	24006761	In_Frame_Del	DEL	ATC	TCGA-OR-A5LO-01A-11D-A29I-10		24006761	131263799	160	11733											
CXorf21	80231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30577888	30577888	+	Silent	SNP	C	C	T													tgcatttgcaagctgcttttCtctttgatgcttgttattct							TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:30577888C>T	ENST00000378962.3	-	3	907	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	195										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGCTGCTTTTCTCTTTGATGC	0.413																																					p.E195E		.											.	CXorf21-131	0			c.G585A						.						110	101	104					X																	30577888		2202	4300	6502	SO:0001819	synonymous_variant	80231	exon3			GCTTTTCTCTTTG	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.585G>A	X.37:g.30577888C>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	147	38	NM_025159	0	0	0	0	0		Silent	SNP	ENST00000378962.3	37	CCDS14224.1																																																																																			.		0.413	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		T	30577888	C	T	30577888	2	4	55	1	0	0	0	0	0	0	0	1	4110	912	32	3		3	CXorf21	23	30577888	Silent	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	6571127	30577888	124692672	161	11734	111	2									
CXorf21	80231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30577890	30577890	+	Missense_Mutation	SNP	C	C	T													catttgcaagctgcttttctCtttgatgcttgttattctcc							TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:30577890C>T	ENST00000378962.3	-	3	905	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	195								p.E195*(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTGCTTTTCTCTTTGATGCTT	0.413																																					p.E195K		.											.	CXorf21-131	1	Substitution - Nonsense(1)	lung(1)	c.G583A						.						107	98	101					X																	30577890		2202	4300	6502	SO:0001583	missense	80231	exon3			TTTTCTCTTTGAT	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.583G>A	X.37:g.30577890C>T	ENSP00000368245:p.Glu195Lys	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	146	36	NM_025159	0	0	0	0	0		Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225555	0.58668	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	4.4	0.53042	.	0.062507	0.64402	D	0.000017	T	0.54159	0.1841	M	0.65498	2.005	0.38248	D	0.941533	P	0.38078	0.617	B	0.37144	0.242	T	0.61486	-0.7053	9	0.62326	D	0.03	-14.5142	9.7712	0.40591	0.1328:0.6628:0.2044:0.0	.	195	Q9HAI6	CX021_HUMAN	K	195	.	ENSP00000368245:E195K	E	-	1	0	CXorf21	30487811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.253000	0.58791	1.169000	0.42739	0.513000	0.50165	GAG	.		0.413	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		T	30577890	C	T	30577890	3	4	55	1	0	0	0	0	1	0	0	0	4110	922	32	3	326	3	CXorf21	23	30577890	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	2	30577890	124692670	162	11735	111	2									
TAF1	6872	ucsc.edu;bcgsc.ca	37	chrX	70587376	70587376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcacttggcaggcttgGgggctttggggctgggcagc	19	8	0	1			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:70587376G>T	ENST00000373790.4	+	2	259	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	TAF1_ENST00000276072.3_Missense_Mutation_p.G70W|TAF1_ENST00000423759.1_Missense_Mutation_p.G70W|TAF1_ENST00000449580.1_Missense_Mutation_p.G70W	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	70	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGCAGGCTTGGGGGCTTTGGG	0.507																																					p.G70W		.											.	TAF1-900	0			c.G208T						.						86	70	75					X																	70587376		2203	4300	6503	SO:0001583	missense	6872	exon2			GGCTTGGGGGCTT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.208G>T	X.37:g.70587376G>T	ENSP00000362895:p.Gly70Trp	Somatic	183	2		WXS	Illumina GAIIx	Phase_I	270	127	NM_004606	0	0	6	6	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.173984	0.78452	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10288	2.89;2.95;2.98;2.92	4.51	3.61	0.41365	TAFII-230 TBP-binding (2);	0.054987	0.64402	D	0.000001	T	0.28101	0.0693	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.01508	-1.1337	10	0.72032	D	0.01	.	13.1622	0.59550	0.0:0.0:0.8391:0.1609	.	70;70	P21675;P21675-2	TAF1_HUMAN;.	W	70	ENSP00000362895:G70W;ENSP00000389000:G70W;ENSP00000406549:G70W;ENSP00000276072:G70W	ENSP00000276072:G70W	G	+	1	0	TAF1	70504101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.606000	0.90888	0.987000	0.38709	0.513000	0.50165	GGG	.		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70587376	G	T	70587376	3	4	55	1	0	0	0	0	1	0	0	0	15560	1232	43	3	214	3	TAF1	23	70587376	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	40009486	70587376	84683184	163	11736											
HS6ST2	90161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	132090979	132090979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccgcttacccggccgGtggcaagtgcatttcttctg	11	13	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:132090979G>T	ENST00000370836.2	-	3	1219	c.804C>A	c.(802-804)caC>caA	p.H268Q	HS6ST2_ENST00000370833.2_Missense_Mutation_p.H122Q|HS6ST2_ENST00000521489.1_Missense_Mutation_p.H268Q	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	268					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TACCCGGCCGGTGGCAAGTGC	0.647																																					p.H268Q		.											.	HS6ST2-130	0			c.C804A						.						25	29	28					X																	132090979		2171	4256	6427	SO:0001583	missense	90161	exon3			CGGCCGGTGGCAA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.804C>A	X.37:g.132090979G>T	ENSP00000359873:p.His268Gln	Somatic	256	0		WXS	Illumina GAIIx	Phase_I	519	111	NM_001077188	0	0	0	0	0	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	g	13.15	2.151687	0.38021	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.56	2.79	0.32731	.	0.165190	0.53938	D	0.000044	T	0.68137	0.2968	M	0.66939	2.045	0.80722	D	1	B;B	0.33318	0.055;0.408	B;B	0.32149	0.102;0.141	T	0.62144	-0.6916	10	0.38643	T	0.18	-0.7085	8.8794	0.35365	0.1906:0.0:0.8094:0.0	.	268;268	Q96MM7;E9PDY5	H6ST2_HUMAN;.	Q	122;268;268;122;109	ENSP00000359874:H122Q;ENSP00000359873:H268Q;ENSP00000429473:H268Q;ENSP00000359870:H122Q	ENSP00000324617:H109Q	H	-	3	2	HS6ST2	131918661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.155000	0.64900	0.384000	0.24942	0.525000	0.51046	CAC	.		0.647	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		T	132090979	G	T	132090979	3	4	55	1	0	0	0	0	1	0	0	0	7398	1252	44	3	1149	3	HS6ST2	23	132090979	Missense_Mutation	SNP	G	TCGA-OR-A5LO-01A-11D-A29I-10	61503603	132090979	23179581	164	11737											
L1CAM	3897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153133282	153133282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggcattgtggtcttctgCaggactccaggacacgcgca	15	11	2	0			TCGA-OR-A5LO-01A-11D-A29I-10	TCGA-OR-A5LO-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	89d60dde-b03a-4cb7-b32a-5d06fa328603	4a5886aa-889d-4ef2-89a9-be2f7a06bd58	g.chrX:153133282C>A	ENST00000370060.1	-	16	2101	c.1912G>T	c.(1912-1914)Gca>Tca	p.A638S	L1CAM_ENST00000543994.1_Missense_Mutation_p.A640S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A633S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A640S|L1CAM_ENST00000370057.3_Missense_Mutation_p.A638S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A633S|L1CAM_ENST00000361699.4_Missense_Mutation_p.A638S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	638	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCTTCTGCAGGACTCCAG	0.672																																					p.A638S		.											.	L1CAM-138	0			c.G1912T						.						55	49	51					X																	153133282		2175	4194	6369	SO:0001583	missense	3897	exon15			CTTCTGCAGGACT	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1912G>T	X.37:g.153133282C>A	ENSP00000359077:p.Ala638Ser	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	177	34	NM_000425	0	0	14	14	0	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416582	0.42918	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.36	4.36	0.52297	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.113123	0.38164	N	0.001789	T	0.35595	0.0937	N	0.21194	0.64	0.09310	N	1	B;B;B	0.34399	0.452;0.372;0.302	B;B;B	0.35413	0.202;0.202;0.163	T	0.38243	-0.9670	10	0.56958	D	0.05	.	13.37	0.60707	0.0:1.0:0.0:0.0	.	633;638;638	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	638;640;638;640;633;633;638	ENSP00000359077:A638S;ENSP00000438430:A640S;ENSP00000359074:A638S;ENSP00000439645:A640S;ENSP00000354712:A633S;ENSP00000359072:A633S;ENSP00000355380:A638S	ENSP00000355380:A638S	A	-	1	0	L1CAM	152786476	0.116000	0.22171	0.068000	0.19968	0.825000	0.46686	1.390000	0.34464	2.013000	0.59113	0.436000	0.28706	GCA	.		0.672	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153133282	C	A	153133282	3	1	55	1	0	0	0	0	1	0	0	0	8616	710	25	3	1917	3	L1CAM	23	153133282	Missense_Mutation	SNP	C	TCGA-OR-A5LO-01A-11D-A29I-10	21042303	153133282	2137278	165	11738											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	56	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		29138975	220111646	1	11739											
CCDC30	728621	bcgsc.ca	37	chr1	43047057	43047057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagcggaaattagaAcatgctcataaagtctgtct	9	9	3	1	rs12037518	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:43047057A>G	ENST00000340612.4	+	7	1092	c.1092A>G	c.(1090-1092)gaA>gaG	p.E364E	CCDC30_ENST00000390640.4_Silent_p.E153E|CCDC30_ENST00000342022.4_Silent_p.E364E|CCDC30_ENST00000428554.2_Silent_p.E364E|CCDC30_ENST00000507855.1_Silent_p.E153E			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAAATTAGAACATGCTCATA	0.348													A|||	1397	0.278954	0.1702	0.1499	5008	,	,		18052	0.4395		0.1879	False		,,,				2504	0.4458				p.E364E		.											.	CCDC30-90	0			c.A1092G						.	A		792,3614	317.7+/-295.3	72,648,1483	89	93	92		1092	2	0.8	1	dbSNP_120	92	1708,6892	311.8+/-310.5	177,1354,2769	no	coding-synonymous	CCDC30	NM_001080850.2		249,2002,4252	GG,GA,AA		19.8605,17.9755,19.2219		364/784	43047057	2500,10506	2203	4300	6503	SO:0001819	synonymous_variant	728621	exon8			ATTAGAACATGCT	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1092A>G	1.37:g.43047057A>G		Somatic	220	1		WXS	Illumina GAIIx	Phase_I	172	6	NM_001080850	0	0	6	6	0	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																			A|0.811;G|0.189		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		G	43047057	A	G	43047057	2	3	56	1	0	0	0	0	0	0	0	1	2812	40	2	4		4	CCDC30	1	43047057	Silent	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	13908082	43047057	206203564	2	11740											
CTH	1491	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	70904780	70904784	+	Splice_Site	DEL	ATAGC	ATAGC	-													ttttcttgtgcactgttattAtagcaccctccaagtggaag							TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	ATAGC	ATAGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:70904780_70904784delATAGC	ENST00000370938.3	+	12	1335_1336	c.1191_1192delATAGC	c.(1189-1194)gcatag>gcag	p.*398fs	CTH_ENST00000346806.2_Splice_Site_p.*354fs|CTH_ENST00000411986.2_Splice_Site_p.*366fs	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACTGTTATTATAGCACCCTCCAAG	0.371																																					p.398_398del		.											.	CTH-91	0			c.1192_1192del						.																																			SO:0001630	splice_region_variant	1491	exon12			GTTATTATAGCAC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1192-1ATAGC>-	1.37:g.70904780_70904784delATAGC		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	84	33	NM_001902	0	0	0	0	0	O95791|Q9NX42	Frame_Shift_Del	DEL	ENST00000370938.3	37	CCDS650.1																																																																																			.		0.371	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	Frame_Shift_Del	-	70904784	ATAGC	-	70904780	8	5	56	1	0	1	0	1	0	0	1	0	4018	464	16	0		0	CTH	1	70904780	Splice_Site	DEL	ATAGC	TCGA-OR-A5LP-01A-11D-A29I-10	27857723	70904780	178345841	3	11741											
GPR88	54112	hgsc.bcm.edu	37	chr1	101005425	101005425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccacgcagccactggtGtgggtgagcctggccagcgg	17	13	0	1	rs201200849	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:101005425G>A	ENST00000315033.4	+	2	1342	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	301					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		AGCCACTGGTGTGGGTGAGCC	0.736													G|||	2	0.000399361	0	0.0029	5008	,	,		8659	0		0	False		,,,				2504	0				p.V301V		.											.	GPR88-90	0			c.G903A						.	G		4,4118		0,4,2057	9	11	10		903	0.6	1	1		10	33,8169		0,33,4068	no	coding-synonymous	GPR88	NM_022049.2		0,37,6125	AA,AG,GG		0.4023,0.097,0.3002		301/385	101005425	37,12287	2061	4101	6162	SO:0001819	synonymous_variant	54112	exon2			ACTGGTGTGGGTG	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.903G>A	1.37:g.101005425G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	10	NM_022049	0	0	0	0	0	Q29S24|Q6VN48	Silent	SNP	ENST00000315033.4	37	CCDS772.1																																																																																			G|0.993;A|0.007		0.736	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049		A	101005425	G	A	101005425	2	1	56	1	0	0	0	0	0	0	0	1	6743	1364	48	3		3	GPR88	1	101005425	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	30100645	101005425	148245196	4	11742											
RSBN1	54665	hgsc.bcm.edu	37	chr1	114354654	114354654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttggggctgcattcgtTggcggcagcggcccaggatg	17	10	0	0	rs3195954	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13	24	21		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	15	11	NM_018364	0	0	0	3	3	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		C	114354654	T	C	114354654	2	2	56	1	0	0	0	0	0	0	0	1	13741	1799	63	4		4	RSBN1	1	114354654	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	13349229	114354654	134895967	5	11743											
PLEKHO1	51177	ucsc.edu	37	chr1	150131221	150131221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctctcccgaccttggGaaaaaacagacaaaggggcc	11	12	1	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:150131221G>A	ENST00000369124.4	+	6	1011	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E62K|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E211K|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	245	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|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)			CCGACCTTGGGAAAAAACAGA	0.637																																					p.E245K		.											.	PLEKHO1-226	0			c.G733A						.						36	43	41					1																	150131221		2203	4300	6503	SO:0001583	missense	51177	exon6			CCTTGGGAAAAAA	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.733G>A	1.37:g.150131221G>A	ENSP00000358120:p.Glu245Lys	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	125	2	NM_016274	0	0	46	59	13	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182749	0.78677	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.49139	0.79;0.82	4.97	4.05	0.47172	.	0.359070	0.31963	N	0.006788	T	0.23410	0.0566	L	0.50333	1.59	0.38303	D	0.943042	B	0.32245	0.361	B	0.21708	0.036	T	0.06625	-1.0816	10	0.27785	T	0.31	-10.5391	14.501	0.67722	0.0:0.1477:0.8523:0.0	.	245	Q53GL0	PKHO1_HUMAN	K	62;211;245;125	ENSP00000025469:E211K;ENSP00000358120:E245K	ENSP00000025469:E211K	E	+	1	0	PLEKHO1	148397845	1.000000	0.71417	0.984000	0.44739	0.804000	0.45430	2.060000	0.41394	1.287000	0.44583	0.655000	0.94253	GAA	.		0.637	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		A	150131221	G	A	150131221	3	1	56	1	0	0	0	0	1	0	0	0	12123	1175	41	3	755	3	PLEKHO1	1	150131221	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	35776567	150131221	99119400	6	11744											
CEP350	9857	ucsc.edu;bcgsc.ca	37	chr1	179956383	179956383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcccagcagatataAccacatcgtgggatgcactt	7	10	0	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:179956383A>G	ENST00000367607.3	+	3	500	c.82A>G	c.(82-84)Acc>Gcc	p.T28A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	28					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						AGCAGATATAACCACATCGTG	0.333																																					p.T28A		.											.	CEP350-26	0			c.A82G						.						82	78	79					1																	179956383		2203	4300	6503	SO:0001583	missense	9857	exon3			GATATAACCACAT	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.82A>G	1.37:g.179956383A>G	ENSP00000356579:p.Thr28Ala	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	34	4	NM_014810	0	0	0	0	0	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.953|7.953	0.745239|0.745239	0.15710|0.15710	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000491495|ENST00000367607;ENST00000357434	.|T	.|0.57436	.|0.4	4.78|4.78	2.43|2.43	0.29744|0.29744	.|.	.|0.278864	.|0.19818	.|U	.|0.105367	T|T	0.28665|0.28665	0.0710|0.0710	N|N	0.12182|0.12182	0.205|0.205	0.18873|0.18873	N|N	0.999983|0.999983	B|B;B	0.26602|0.22800	0.154|0.075;0.013	B|B;B	0.28011|0.19946	0.085|0.027;0.005	T|T	0.14200|0.14200	-1.0481|-1.0481	7|9	.|.	.|.	.|.	.|.	7.0399|7.0399	0.25015|0.25015	0.7414:0.0:0.2586:0.0|0.7414:0.0:0.2586:0.0	.|.	40|28;28	E9PIK0|E7EU22;Q5VT06	.|.;CE350_HUMAN	S|A	40|28;27	.|ENSP00000356579:T28A	.|.	N|T	+|+	2|1	0|0	CEP350|CEP350	178223006|178223006	0.950000|0.950000	0.32346|0.32346	0.903000|0.903000	0.35520|0.35520	0.322000|0.322000	0.28314|0.28314	0.962000|0.962000	0.29280|0.29280	0.780000|0.780000	0.33566|0.33566	0.397000|0.397000	0.26171|0.26171	AAC|ACC	.		0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	179956383	A	G	179956383	3	3	56	1	0	0	0	0	1	0	0	0	3261	43	2	4	88	4	CEP350	1	179956383	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	29825162	179956383	69294238	7	11745											
RGL1	23179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	183867009	183867009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagcgtacccagaggcGgctgcagctccagaaggaca	13	13	0	3			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:183867009G>T	ENST00000360851.3	+	10	1386	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	RGL1_ENST00000304685.4_Missense_Mutation_p.R438L|RGL1_ENST00000536277.1_Missense_Mutation_p.R401L|RGL1_ENST00000539189.1_Missense_Mutation_p.R403L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	403	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACCCAGAGGCGGCTGCAGCTC	0.542																																					p.R438L		.											.	RGL1-725	0			c.G1313T						.						79	82	81					1																	183867009		2203	4300	6503	SO:0001583	missense	23179	exon11			AGAGGCGGCTGCA	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1208G>T	1.37:g.183867009G>T	ENSP00000354097:p.Arg403Leu	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	119	60	NM_015149	0	0	4	25	21	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.109492	0.94292	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50277	0.76;0.76;0.76;0.75;1.54	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.78049	2.395	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.178;1.0;1.0	D;D;B;D;D	0.87578	0.997;0.998;0.276;0.998;0.998	T	0.67317	-0.5701	10	0.29301	T	0.29	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	403;401;208;403;438	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	L	438;438;401;208;403;403	ENSP00000303192:R438L;ENSP00000356501:R438L;ENSP00000438662:R401L;ENSP00000354097:R403L;ENSP00000437355:R403L	ENSP00000303192:R438L	R	+	2	0	RGL1	182133632	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.505000	0.97989	2.496000	0.84212	0.655000	0.94253	CGG	.		0.542	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		T	183867009	G	T	183867009	3	4	56	1	0	0	0	0	1	0	0	0	13321	1116	39	2	1351	2	RGL1	1	183867009	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	3910626	183867009	65383612	8	11746											
IKBKE	9641	bcgsc.ca	37	chr1	206651107	206651107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtaccggatcaccacGgagaagccggctggggccat	15	13	1	1	rs2297545	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:206651107G>A	ENST00000367120.3	+	8	1090	c.717G>A	c.(715-717)acG>acA	p.T239T	IKBKE_ENST00000537984.1_Silent_p.T154T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGATCACCACGGAGAAGCCGG	0.652													G|||	1580	0.315495	0.1558	0.402	5008	,	,		15713	0.6131		0.2286	False		,,,				2504	0.2526				p.T239T		.											.	IKBKE-1061	0			c.G717A						.	G	,,	716,3650		56,604,1523	13	14	13		462,717,717	-9.1	0.1	1	dbSNP_100	13	1791,6755		176,1439,2658	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	232,2043,4181	AA,AG,GG		20.9572,16.3995,19.416	,,	154/632,239/658,239/717	206651107	2507,10405	2183	4273	6456	SO:0001819	synonymous_variant	9641	exon8			CACCACGGAGAAG	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.717G>A	1.37:g.206651107G>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	123	6	NM_001193322	0	0	0	0	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																			G|0.745;A|0.255		0.652	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			A	206651107	G	A	206651107	2	1	56	1	0	0	0	0	0	0	0	1	7639	1103	39	1		1	IKBKE	1	206651107	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	22784098	206651107	42599514	9	11747											
KCTD3	51133	hgsc.bcm.edu	37	chr1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggcactgcggcagcTtccccgcggcggcggccggc	19	16	0	0	rs2275768	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		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)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3	5	5		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	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.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	7	NM_016121	1	0	0	9	8	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215741053	T	G	215741053	3	3	56	1	0	0	0	0	1	0	0	0	8137	1609	56	5	27	5	KCTD3	1	215741053	Missense_Mutation	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	9089946	215741053	33509568	10	11748											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228399799	228399799	+	Silent	SNP	C	C	T													gtggacgcggaggccgcgtgCgccgagcaggcgccgcactt					rs11582369	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228399799C>T	ENST00000422127.1	+	2	359	c.315C>T	c.(313-315)tgC>tgT	p.C105C	OBSCN_ENST00000570156.2_Silent_p.C105C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.C105C|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	105					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)				AGGCCGCGTGCGCCGAGCAGG	0.736													C|||	254	0.0507188	0.0129	0.0591	5008	,	,		8585	0.121		0.0338	False		,,,				2504	0.0409				p.C105C		.											.	OBSCN-403	0			c.C315T						.	C	,	63,3177		0,63,1557	6	7	6		315,315	-4.9	0	1	dbSNP_120	6	259,6741		4,251,3245	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	4,314,4802	TT,TC,CC		3.7,1.9444,3.1445	,	105/7969,105/6621	228399799	322,9918	1620	3500	5120	SO:0001819	synonymous_variant	84033	exon2			CGCGTGCGCCGAG	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.315C>T	1.37:g.228399799C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.943;T|0.057		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228399799	C	T	228399799	2	4	56	1	0	0	0	0	0	0	0	1	10851	776	27	1		1	OBSCN	1	228399799	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	12658746	228399799	20850822	11	11749	112	2									
OBSCN	84033	hgsc.bcm.edu	37	chr1	228399803	228399803	+	Missense_Mutation	SNP	G	G	C													acgcggaggccgcgtgcgccGagcaggcgccgcacttcctg							TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228399803G>C	ENST00000422127.1	+	2	363	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.E107Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E107Q|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	107					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)				CGCGTGCGCCGAGCAGGCGCC	0.741																																					p.E107Q		.											.	OBSCN-403	0			c.G319C						.						6	6	6					1																	228399803		1584	3420	5004	SO:0001583	missense	84033	exon2			TGCGCCGAGCAGG	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.319G>C	1.37:g.228399803G>C	ENSP00000409493:p.Glu107Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001271223	0	0	0	0	0	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	9.243	1.038879	0.19669	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.62941	0.41;-0.01	4.57	1.26	0.21427	Immunoglobulin-like fold (1);	0.199030	0.32836	N	0.005581	T	0.38268	0.1034	N	0.17901	0.54	0.80722	D	1	P;P	0.35714	0.517;0.477	B;B	0.36186	0.185;0.219	T	0.05784	-1.0864	10	0.15066	T	0.55	.	5.4525	0.16572	0.0793:0.1408:0.6345:0.1454	.	107;107	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	107	ENSP00000284548:E107Q;ENSP00000409493:E107Q	ENSP00000284548:E107Q	E	+	1	0	OBSCN	226466426	1.000000	0.71417	0.342000	0.25602	0.005000	0.04900	5.963000	0.70372	0.317000	0.23160	-0.300000	0.09419	GAG	.		0.741	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228399803	G	C	228399803	3	2	56	1	0	0	0	0	1	0	0	0	10851	1059	37	2	321	2	OBSCN	1	228399803	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	4	228399803	20850818	12	11750	112	2									
OBSCN	84033	hgsc.bcm.edu	37	chr1	228504669	228504669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgacgccgtggcctctgcGcggctcaccgtgctgggtgg	17	15	2	0	rs61825302	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000366709.4_Silent_p.A1634A|OBSCN_ENST00000366707.4_Silent_p.A2149A|OBSCN_ENST00000284548.11_Silent_p.A4515A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941				p.A5472A		.											.	OBSCN-403	0			c.G16416A						.		,	507,3253		36,435,1409	5	6	6		13545,13545	-6.2	0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033	exon62			CTCTGCGCGGCTC	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.13545G>A	1.37:g.228504669G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.841;A|0.159		0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228504669	G	A	228504669	2	1	56	1	0	0	0	0	0	0	0	1	10851	1074	38	1		1	OBSCN	1	228504669	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	104866	228504669	20745952	13	11751											
RNF149	284996	hgsc.bcm.edu	37	chr2	101925026	101925026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgcgagccccgacgcTggcttcgcgccgccgccacg	13	21	0	0	rs11123868	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:101925026T>C	ENST00000295317.3	-	1	132	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	9			S -> G (in dbSNP:rs11123868). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCCCCGACGCTGGCTTCGCGC	0.726													C|||	2397	0.478634	0.7678	0.4582	5008	,	,		13525	0.3175		0.3917	False		,,,				2504	0.3579				p.S9G	Colon(25;331 612 6521 7355 31028)	.											.	RNF149-290	0			c.A25G						.	C	GLY/SER	1794,1350		547,700,325	4	6	5		25	-2.5	0	2	dbSNP_120	5	2382,4344		496,1390,1477	no	missense	RNF149	NM_173647.3	56	1043,2090,1802	CC,CT,TT		35.4148,42.9389,42.31	benign	9/401	101925026	4176,5694	1572	3363	4935	SO:0001583	missense	284996	exon1			CGACGCTGGCTTC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.25A>G	2.37:g.101925026T>C	ENSP00000295317:p.Ser9Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_173647	0	0	0	0	0	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	1023	0.4684065934065934	378	0.7682926829268293	162	0.44751381215469616	189	0.3304195804195804	294	0.38786279683377306	C	1.566	-0.535355	0.04082	0.570611	0.354148	ENSG00000163162	ENST00000295317	T	0.08634	3.07	3.96	-2.45	0.06481	.	4.553570	0.01792	N	0.032390	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	0.16896	T	0.51	.	7.6769	0.28490	0.0:0.1603:0.4369:0.4028	rs11123868;rs17856944;rs56755384	9	Q8NC42	RN149_HUMAN	G	9	ENSP00000295317:S9G	ENSP00000295317:S9G	S	-	1	0	RNF149	101291458	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.581000	0.05820	-0.783000	0.04534	-0.374000	0.07098	AGC	T|0.543;C|0.457		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		C	101925026	T	C	101925026	3	2	56	1	0	0	0	0	1	0	0	0	13495	1580	55	4	1205	4	RNF149	2	101925026	Missense_Mutation	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10		101925026	141274347	14	11752											
RANBP2	5903	broad.mit.edu;bcgsc.ca	37	chr2	109382319	109382319	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaggctccaaagagtggatTtgaaggaatgttcatcagga	12	6	2	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:109382319T>A	ENST00000283195.6	+	20	5450	c.5324T>A	c.(5323-5325)tTt>tAt	p.F1775Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1775					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAGTGGATTTGAAGGAATG	0.403																																					p.F1775Y		.											.	RANBP2-675	0			c.T5324A						.						98	99	99					2																	109382319		2203	4300	6503	SO:0001583	missense	5903	exon20			GTGGATTTGAAGG	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.5324T>A	2.37:g.109382319T>A	ENSP00000283195:p.Phe1775Tyr	Somatic	346	0		WXS	Illumina GAIIx	Phase_I	299	10	NM_006267	0	0	12	12	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869349	0.32977	.	.	ENSG00000153201	ENST00000283195	T	0.30981	1.51	2.64	2.64	0.31445	.	.	.	.	.	T	0.38878	0.1057	H	0.95260	3.645	0.22940	N	0.998539	B	0.26975	0.165	B	0.23018	0.043	T	0.52411	-0.8579	9	0.08179	T	0.78	-5.0514	7.0107	0.24861	0.0:0.0:0.0:1.0	.	1775	P49792	RBP2_HUMAN	Y	1775	ENSP00000283195:F1775Y	ENSP00000283195:F1775Y	F	+	2	0	RANBP2	108748751	0.946000	0.32159	0.990000	0.47175	0.896000	0.52359	2.073000	0.41519	1.203000	0.43233	0.379000	0.24179	TTT	.		0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109382319	T	A	109382319	3	1	56	1	0	0	0	0	1	0	0	0	13073	1841	64	5	5402	5	RANBP2	2	109382319	Missense_Mutation	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	7457293	109382319	133817054	15	11753											
FOXD4L1	200350	mdanderson.org	37	chr2	114257443	114257443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgtaggaagcgtttcAagcgccaccaactgaccccg	11	15	1	1	rs377465547	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:114257443A>C	ENST00000306507.5	+	1	783	c.610A>C	c.(610-612)Aag>Cag	p.K204Q		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	204					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K204Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAAGCGTTTCAAGCGCCACCA	0.682													.|||	1167	0.233027	0.1029	0.3184	5008	,	,		11316	0.501		0.1302	False		,,,				2504	0.1779				p.K204Q		.											.	FOXD4L1-84	1	Substitution - Missense(1)	breast(1)	c.A610C						.	A	GLN/LYS	1,2995		0,1,1497	16	22	20		610	2.6	1	2		20	1,6035		0,1,3017	no	missense	FOXD4L1	NM_012184.4	53	0,2,4514	CC,CA,AA		0.0166,0.0334,0.0221	benign	204/409	114257443	2,9030	1498	3018	4516	SO:0001583	missense	200350	exon1			CGTTTCAAGCGCC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.610A>C	2.37:g.114257443A>C	ENSP00000302756:p.Lys204Gln	Somatic	23	1		WXS	Illumina GAIIx	Phase_I	25	12	NM_012184	0	0	0	1	1	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234654	0.39498	3.34E-4	1.66E-4	ENSG00000184492	ENST00000306507	D	0.96168	-3.93	2.57	2.57	0.30868	.	0.000000	0.35378	U	0.003255	D	0.89546	0.6746	N	0.20986	0.625	0.49798	D	0.999826	B	0.25563	0.129	B	0.25614	0.062	D	0.85812	0.1380	10	0.48119	T	0.1	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	204	Q9NU39	FX4L1_HUMAN	Q	204	ENSP00000302756:K204Q	ENSP00000302756:K204Q	K	+	1	0	FOXD4L1	113973913	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	8.525000	0.90583	1.190000	0.43042	0.155000	0.16302	AAG	.		0.682	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		C	114257443	A	C	114257443	3	2	56	1	0	0	0	0	1	0	0	0	6022	131	5	5	612	5	FOXD4L1	2	114257443	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	4875124	114257443	128941930	16	11754											
C2orf54	79919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241835134	241835134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcctctggttcctcaAtcagtagagcctcggcatcc	12	13	3	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:241835134A>G	ENST00000388934.4	-	1	439	c.281T>C	c.(280-282)aTt>aCt	p.I94T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	94										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TGGTTCCTCAATCAGTAGAGC	0.642																																					p.I94T		.											.	C2orf54-90	0			c.T281C						.						41	45	44					2																	241835134		2028	4158	6186	SO:0001583	missense	79919	exon1			TCCTCAATCAGTA	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.281T>C	2.37:g.241835134A>G	ENSP00000373586:p.Ile94Thr	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	186	118	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	A	8.430	0.848330	0.17034	.	.	ENSG00000172478	ENST00000388934;ENST00000414499;ENST00000454476	T;T;T	0.11169	2.8;2.8;2.8	5.41	0.0119	0.14089	.	1.340470	0.05108	N	0.488313	T	0.10680	0.0261	L	0.51422	1.61	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.41052	-0.9530	10	0.54805	T	0.06	1.116	1.8678	0.03202	0.5835:0.1373:0.1473:0.1319	.	94	Q08AI8	CB054_HUMAN	T	94;94;84	ENSP00000373586:I94T;ENSP00000390935:I94T;ENSP00000394874:I84T	ENSP00000373586:I94T	I	-	2	0	C2orf54	241483807	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	0.529000	0.23019	0.020000	0.15106	0.459000	0.35465	ATT	.		0.642	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		G	241835134	A	G	241835134	3	3	56	1	0	0	0	0	1	0	0	0	2182	101	4	4	1096	4	C2orf54	2	241835134	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	127577691	241835134	1364239	17	11755											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_014779	0	0	0	2	2	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	56	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		150128392	47894038	18	11756											
FAT4	79633	bcgsc.ca	37	chr4	126238924	126238924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggcgcagcagtccAggcgcgctcttctgtggcaa	13	16	2	0	rs6847454	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr4:126238924A>T	ENST00000394329.3	+	1	1371	c.1358A>T	c.(1357-1359)cAg>cTg	p.Q453L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> L (in dbSNP:rs6847454).		branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCAGTCCAGGCGCGCTCT	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	2135	0.426318	0.615	0.4092	5008	,	,		18623	0.2371		0.4205	False		,,,				2504	0.3845				p.Q453L		.											.	FAT4-108	0			c.A1358T						.	A	LEU/GLN	2215,1847		622,971,438	43	46	45		1358	-2.6	0.1	4	dbSNP_116	45	3559,4781		753,2053,1364	yes	missense	FAT4	NM_024582.4	113	1375,3024,1802	TT,TA,AA		42.6739,45.4702,46.557	benign	453/4982	126238924	5774,6628	2031	4170	6201	SO:0001583	missense	79633	exon1			CAGTCCAGGCGCG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1358A>T	4.37:g.126238924A>T	ENSP00000377862:p.Gln453Leu	Somatic	260	3	1548	WXS	Illumina GAIIx	Phase_I	207	7	NM_024582	0	0	2	2	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	914	0.4184981684981685	309	0.6280487804878049	150	0.4143646408839779	134	0.23426573426573427	321	0.4234828496042216	A	1.356	-0.590036	0.03799	0.545298	0.426739	ENSG00000196159	ENST00000394329	T	0.53640	0.61	3.81	-2.64	0.06114	Cadherin (4);Cadherin-like (1);	1.015660	0.07944	U	0.979875	T	0.00012	0.0000	N	0.08118	0	0.38401	P	0.05432099999999995	B	0.09022	0.002	B	0.13407	0.009	T	0.45101	-0.9284	9	0.28530	T	0.3	.	7.174	0.25734	0.3191:0.1978:0.4831:0.0	rs6847454;rs52793335;rs58376448;rs6847454	453	Q6V0I7	FAT4_HUMAN	L	453	ENSP00000377862:Q453L	ENSP00000377862:Q453L	Q	+	2	0	FAT4	126458374	0.049000	0.20398	0.080000	0.20451	0.545000	0.35147	0.150000	0.16263	-0.504000	0.06577	0.459000	0.35465	CAG	A|0.518;T|0.482		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126238924	A	T	126238924	3	4	56	1	0	0	0	0	1	0	0	0	5714	188	7	5	1360	5	FAT4	4	126238924	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10		126238924	64915352	19	11757											
EDIL3	10085	bcgsc.ca	37	chr5	83259162	83259162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccagtcactttggtTggaacaagaagatccacctt	9	9	1	3			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr5:83259162T>C	ENST00000296591.5	-	10	1573	c.1155A>G	c.(1153-1155)ccA>ccG	p.P385P	EDIL3_ENST00000380138.3_Silent_p.P375P	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	385	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCACTTTGGTTGGAACAAGAA	0.373																																					p.P385P		.											.	EDIL3-131	0			c.A1155G						.						99	95	96					5																	83259162		2203	4300	6503	SO:0001819	synonymous_variant	10085	exon10			TTTGGTTGGAACA	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1155A>G	5.37:g.83259162T>C		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	93	6	NM_005711	0	0	133	133	0	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																			.		0.373	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		C	83259162	T	C	83259162	2	2	56	1	0	0	0	0	0	0	0	1	4929	1799	63	4		4	EDIL3	5	83259162	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10		83259162	97656098	20	11758											
MAN2A1	4124	broad.mit.edu;bcgsc.ca	37	chr5	109091082	109091082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggtggctgggttatgcctGatgaagctactccacattat	11	9	0	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr5:109091082G>A	ENST00000261483.4	+	5	1812	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	254					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GGTTATGCCTGATGAAGCTAC	0.318																																					p.D254N		.											.	MAN2A1-92	0			c.G760A						.						133	131	132					5																	109091082		2202	4300	6502	SO:0001583	missense	4124	exon5			ATGCCTGATGAAG		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.760G>A	5.37:g.109091082G>A	ENSP00000261483:p.Asp254Asn	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	147	8	NM_002372	0	0	22	22	0	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157388	0.94686	.	.	ENSG00000112893	ENST00000261483	D	0.85773	-2.03	5.44	5.44	0.79542	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.98980	4.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97764	1.0222	10	0.87932	D	0	-26.6293	18.0355	0.89301	0.0:0.0:1.0:0.0	.	254	Q16706	MA2A1_HUMAN	N	254	ENSP00000261483:D254N	ENSP00000261483:D254N	D	+	1	0	MAN2A1	109118981	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.690000	0.98676	2.539000	0.85634	0.555000	0.69702	GAT	.		0.318	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			A	109091082	G	A	109091082	3	1	56	1	0	0	0	0	1	0	0	0	9252	1290	45	3	778	3	MAN2A1	5	109091082	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	25831920	109091082	71824178	21	11759											
ATXN1	6310	broad.mit.edu	37	chr6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC													gccccggagccctgctgaggINStgctgctgctgctgctgctg							TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		.											.	ATXN1-93	0			c.678_679insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	48	14	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		TGC	16327865	-	TGC	16327864	7	5	56	1	0	1	1	0	0	0	0	0	1210	1252	44	0	1777	0	ATXN1	6	16327864	In_Frame_Ins	INS	-	TCGA-OR-A5LP-01A-11D-A29I-10		16327864	154787203	22	11760											
MCCD1	401250	bcgsc.ca	37	chr6	31497706	31497706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagagccttggaggaggCgcctaagtttcccccagtgc	13	12	0	1	rs2075582	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:31497706C>T	ENST00000376191.2	+	2	652	c.354C>T	c.(352-354)ggC>ggT	p.G118G	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	118						mitochondrion (GO:0005739)				skin(1)	1						TTGGAGGAGGCGCCTAAGTTT	0.602																																					p.G118G		.											.	MCCD1-90	0			c.C354T						.	C		2456,484		1032,392,46	17	10	12		354	-8.9	0	6	dbSNP_96	12	4016,1284		1550,916,184	no	coding-synonymous	MCCD1	NM_001011700.2		2582,1308,230	TT,TC,CC		24.2264,16.4626,21.4563		118/120	31497706	6472,1768	1470	2650	4120	SO:0001819	synonymous_variant	401250	exon2			AGGAGGCGCCTAA		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.354C>T	6.37:g.31497706C>T		Somatic	230	1		WXS	Illumina GAIIx	Phase_I	205	8	NM_001011700	0	0	0	0	0	A2AB29|A2RUP7|B0UZB2|Q7RTY2	Silent	SNP	ENST00000376191.2	37	CCDS34396.1																																																																																			C|0.215;T|0.785		0.602	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			T	31497706	C	T	31497706	2	4	56	1	0	0	0	0	0	0	0	1	9414	755	27	1		1	MCCD1	6	31497706	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	15169842	31497706	139617361	23	11761											
TNRC18	84629	hgsc.bcm.edu	37	chr7	5372499	5372499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccgggccttgcgcccCttctccaccgccagcttggc	10	19	1	0	rs113405524	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:5372499C>T	ENST00000430969.1	-	19	6249	c.5901G>A	c.(5899-5901)aaG>aaA	p.K1967K	TNRC18_ENST00000399537.4_Silent_p.K1967K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1967							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)		CCTTGCGCCCCTTCTCCACCG	0.771													C|||	67	0.0133786	0	0.0086	5008	,	,		9553	0		0.0149	False		,,,				2504	0.047				p.K1967K		.											.	TNRC18-46	0			c.G5901A						.	C		2,2776		0,2,1387	3	4	3		5901	3.2	1	7	dbSNP_132	3	19,6349		0,19,3165	no	coding-synonymous	TNRC18	NM_001080495.2		0,21,4552	TT,TC,CC		0.2984,0.072,0.2296		1967/2969	5372499	21,9125	1389	3184	4573	SO:0001819	synonymous_variant	84629	exon19			GCGCCCCTTCTCC	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.5901G>A	7.37:g.5372499C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	23	0.010531135531135532	7	0.014227642276422764	3	0.008287292817679558	2	0.0034965034965034965	11	0.014511873350923483	.	9.698	1.153785	0.21371	7.2E-4	0.002984	ENSG00000182095	ENST00000455076	.	.	.	4.35	3.21	0.36854	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	.	9.2245	0.37398	0.0:0.8174:0.0:0.1826	.	.	.	.	K	4	.	.	R	-	2	0	TNRC18	5339025	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	0.720000	0.25896	1.955000	0.56771	0.555000	0.69702	AGG	C|0.989;T|0.011		0.771	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5372499	C	T	5372499	2	4	56	1	0	0	0	0	0	0	0	1	16386	680	24	3		3	TNRC18	7	5372499	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		5372499	153766164	24	11762											
RAPGEF5	9771	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	22348060	22348060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaattcacagtacaagTagctacattcatcagaggaa	6	8	4	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:22348060T>C	ENST00000405243.1	-	5	661	c.578A>G	c.(577-579)tAc>tGc	p.Y193C	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.Y40C			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	121	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACAGTACAAGTAGCTACATTC	0.363																																					p.Y40C		.											.	RAPGEF5-206	0			c.A119G						.						71	66	67					7																	22348060		1875	4099	5974	SO:0001583	missense	9771	exon5			TACAAGTAGCTAC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.578A>G	7.37:g.22348060T>C	ENSP00000384870:p.Tyr193Cys	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	117	7	NM_012294	0	0	0	0	0	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37		.	.	.	.	.	.	.	.	.	.	T	13.00	2.107632	0.37145	.	.	ENSG00000136237	ENST00000344041;ENST00000405243	T;T	0.13778	2.56;2.56	6.03	4.87	0.63330	.	0.150151	0.42172	D	0.000752	T	0.14184	0.0343	L	0.47716	1.5	0.34455	D	0.701131	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	10	0.45353	T	0.12	.	12.3361	0.55067	0.0:0.0659:0.0:0.9341	.	40	A8MQ07	.	C	40;193	ENSP00000343656:Y40C;ENSP00000384870:Y193C	ENSP00000343656:Y40C	Y	-	2	0	RAPGEF5	22314585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.553000	0.36255	1.090000	0.41315	0.533000	0.62120	TAC	.		0.363	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		C	22348060	T	C	22348060	3	2	56	1	0	0	0	0	1	0	0	0	13092	1638	57	4	2161	4	RAPGEF5	7	22348060	Missense_Mutation	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	16975561	22348060	136790603	25	11763											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_002047	0	0	0	104	104	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	56	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	8286601	30634661	128504002	26	11764											
RAMP3	10268	hgsc.bcm.edu	37	chr7	45197433	45197433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcggccggccagccatggaGactggagcgctgcggcgccc	17	15	0	1	rs67477213	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000496212.1_Silent_p.E2E|RAMP3_ENST00000481345.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					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)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3	3	3		6	2	0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	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.6G>A	7.37:g.45197433G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_005856	0	0	0	36	36	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45197433	G	A	45197433	2	1	56	1	0	0	0	0	0	0	0	1	13068	933	33	3		3	RAMP3	7	45197433	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	14562772	45197433	113941230	27	11765											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	51111334	51111334	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctccgcctctgacagCacctgcggggctccatccgg	11	18	2	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:51111334C>A	ENST00000265136.7	-	8	1317	c.1152G>T	c.(1150-1152)gtG>gtT	p.V384V	COBL_ENST00000395542.2_Silent_p.V466V	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	384					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTCTGACAGCACCTGCGGGG	0.627																																					p.V384V	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G1152T						.						45	43	44					7																	51111334		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon8			TGACAGCACCTGC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1152G>T	7.37:g.51111334C>A		Somatic	81	0		WXS	Illumina GAIIx	Phase_I	104	43	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021174	0.08006	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.19	-1.35	0.09114	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24048	-1.0171	4	.	.	.	.	1.1276	0.01738	0.1445:0.3222:0.2818:0.2515	.	.	.	.	S	360	.	.	A	-	1	0	COBL	51078828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	-0.231000	0.09825	-0.947000	0.02670	GCT	.		0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51111334	C	A	51111334	2	1	56	1	0	0	0	0	0	0	0	1	3660	697	25	3		3	COBL	7	51111334	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	5913901	51111334	108027329	28	11766											
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu	37	chr7	53103693	53103693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggggagaccgctctggggcGagacctctcctgtgcctggg	17	13	2	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:53103693G>T	ENST00000408890.4	+	1	345	c.329G>T	c.(328-330)cGa>cTa	p.R110L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	110										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTCTGGGGCGAGACCTCTCC	0.716																																					p.R110L		.											.	.	0			c.G329T						.						24	28	27					7																	53103693		1976	4131	6107	SO:0001583	missense	285877	exon1			TGGGGCGAGACCT		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.329G>T	7.37:g.53103693G>T	ENSP00000386133:p.Arg110Leu	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	82	8	NM_182595	0	0	0	0	0	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	4.354	0.065257	0.08388	.	.	ENSG00000221900	ENST00000408890	T	0.21191	2.02	1.55	-2.22	0.06952	.	.	.	.	.	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.27971	0.196	B	0.14023	0.01	T	0.36480	-0.9746	9	0.16896	T	0.51	.	4.0799	0.09921	0.0:0.2747:0.5148:0.2105	.	110	Q8N7R1	P1L12_HUMAN	L	110	ENSP00000386133:R110L	ENSP00000386133:R110L	R	+	2	0	POM121L12	53071187	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.729000	0.04920	-0.722000	0.04922	-0.502000	0.04539	CGA	.		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103693	G	T	53103693	3	4	56	1	0	0	0	0	1	0	0	0	12280	1058	37	2	331	2	POM121L12	7	53103693	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	1992359	53103693	106034970	29	11767											
MLL3	58508	bcgsc.ca	37	chr7	151962269	151962269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctcccgggctgtcgcaCactgcacagtttgcatcttc	10	14	2	0			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					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)										GGCTGTCGCACACTGCACAGT	0.368																																					p.V346V		.											.	MLL3-1398	0			c.G1038A						.						108	97	101					7																	151962269		2203	4298	6501	SO:0001819	synonymous_variant	58508	exon8			GTCGCACACTGCA	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.1038G>A	7.37:g.151962269C>T		Somatic	309	9		WXS	Illumina GAIIx	Phase_I	264	25	NM_170606	0	0	1	1	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			.		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151962269	C	T	151962269	2	4	56	1	0	0	0	0	0	0	0	1	9660	465	17	3		3	MLL3	7	151962269	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	98858576	151962269	7176394	30	11768											
NOM1	64434	hgsc.bcm.edu	37	chr7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgtggtccgcatgaagCgcagaggcgggcgcgggccg	20	12	0	2	rs6969990	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			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)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3	4	3		70	4.4	0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	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.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	4	NM_138400	0	0	0	1	1	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156742501	C	G	156742501	3	3	56	1	0	0	0	0	1	0	0	0	10569	768	27	2	72	2	NOM1	7	156742501	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	4780232	156742501	2396162	31	11769											
DLGAP2	9228	broad.mit.edu	37	chr8	1626628	1626628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccctgccccctccagAcccctggctggagcccgcca	8	23	0	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr8:1626628A>C	ENST00000421627.2	+	9	2431	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	845					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)		CCCCCTCCAGACCCCTGGCTG	0.612																																					p.D766A		.											.	DLGAP2-22	0			c.A2297C						.						21	25	24					8																	1626628		1874	4109	5983	SO:0001583	missense	9228	exon9			CTCCAGACCCCTG	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.2297A>C	8.37:g.1626628A>C	ENSP00000400258:p.Asp766Ala	Somatic	97	17		WXS	Illumina GAIIx	Phase_I	77	13	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.931|9.931	1.214878|1.214878	0.22373|0.22373	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19394|.	2.15|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.358149|.	0.29113|.	N|.	0.013116|.	T|T	0.65048|0.65048	0.2654|0.2654	L|L	0.54965|0.54965	1.715|1.715	0.38350|0.38350	D|D	0.944301|0.944301	B;B|.	0.24721|.	0.11;0.064|.	B;B|.	0.33042|.	0.157;0.114|.	T|T	0.66870|0.66870	-0.5814|-0.5814	10|5	0.87932|.	D|.	0|.	-12.6457|-12.6457	15.2784|15.2784	0.73760|0.73760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	831;845|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	A|P	797;766|769	ENSP00000400258:D766A|.	ENSP00000348366:D797A|.	D|T	+|+	2|1	0|0	DLGAP2|DLGAP2	1614035|1614035	0.993000|0.993000	0.37304|0.37304	0.599000|0.599000	0.28851|0.28851	0.085000|0.085000	0.17905|0.17905	3.185000|3.185000	0.50934|0.50934	2.003000|2.003000	0.58678|0.58678	0.528000|0.528000	0.53228|0.53228	GAC|ACC	.		0.612	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		C	1626628	A	C	1626628	3	2	56	1	0	0	0	0	1	0	0	0	4574	275	10	5	2327	5	DLGAP2	8	1626628	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10		1626628	144737394	32	11770											
EPPK1	83481	hgsc.bcm.edu	37	chr8	144940658	144940658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagggccgtgccgggcCgcagcacgcccttccacatg	13	18	0	0	rs201270359		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr8:144940658C>T	ENST00000525985.1	-	2	6835	c.6764G>A	c.(6763-6765)cGg>cAg	p.R2255Q				P58107	EPIPL_HUMAN	epiplakin 1	2255						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)			CGTGCCGGGCCGCAGCACGCC	0.721																																					p.R2255Q		.											.	EPPK1-25	0			c.G6764A						.	C	GLN/ARG	13,4339		0,13,2163	50	47	48		6764	4.7	1	8		48	10,8504		0,10,4247	yes	missense	EPPK1	NM_031308.1	43	0,23,6410	TT,TC,CC		0.1175,0.2987,0.1788	probably-damaging	2255/2420	144940658	23,12843	2176	4257	6433	SO:0001583	missense	83481	exon1			CCGGGCCGCAGCA	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.6764G>A	8.37:g.144940658C>T	ENSP00000436337:p.Arg2255Gln	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	32	15	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313731	0.81358	0.002987	0.001175	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.67	4.67	0.58626	.	.	.	.	.	T	0.82061	0.4955	M	0.69358	2.11	0.29694	N	0.840709	D	0.89917	1.0	D	0.78314	0.991	T	0.76979	-0.2758	9	0.40728	T	0.16	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2255	E9PPU0	.	Q	2255	ENSP00000436337:R2255Q	ENSP00000436337:R2255Q	R	-	2	0	EPPK1	145012646	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.431000	0.52814	2.420000	0.82092	0.591000	0.81541	CGG	.		0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940658	C	T	144940658	3	4	56	1	0	0	0	0	1	0	0	0	5206	652	23	1	502	1	EPPK1	8	144940658	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	143314030	144940658	1423364	33	11771											
CTSL1	1514	ucsc.edu;bcgsc.ca	37	chr9	90346015	90346015	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcagccagctaccccaCtgtgtgagctggtggacggt	13	13	1	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:90346015C>G	ENST00000343150.5	+	8	1885	c.995C>G	c.(994-996)aCt>aGt	p.T332S	CTSL_ENST00000340342.6_Missense_Mutation_p.T332S|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	332					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										AGCTACCCCACTGTGTGAGCT	0.552																																					p.T332S		.											.	CTSL1-93	0			c.C995G						.						80	62	68					9																	90346015		2203	4300	6503	SO:0001583	missense	1514	exon8			ACCCCACTGTGTG	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.995C>G	9.37:g.90346015C>G	ENSP00000345344:p.Thr332Ser	Somatic	124	2		WXS	Illumina GAIIx	Phase_I	89	49	NM_145918	0	0	49	325	276	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187021	0.38609	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	D;D	0.87412	-2.25;-2.25	3.94	-1.49	0.08718	Peptidase C1A, papain C-terminal (2);	0.641465	0.16118	N	0.228774	T	0.80974	0.4727	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70436	-0.4872	10	0.56958	D	0.05	.	9.3979	0.38415	0.0:0.2548:0.0:0.7452	.	332	P07711	CATL1_HUMAN	S	332	ENSP00000345344:T332S;ENSP00000365061:T332S	ENSP00000365061:T332S	T	+	2	0	CTSL1	89535835	0.002000	0.14202	0.000000	0.03702	0.632000	0.37999	1.310000	0.33551	-0.177000	0.10690	0.591000	0.81541	ACT	.		0.552	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		G	90346015	C	G	90346015	3	3	56	1	0	0	0	0	1	0	0	0	4047	565	20	3	1021	3	CTSL1	9	90346015	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		90346015	50867416	34	11772											
SECISBP2	79048	ucsc.edu	37	chr9	91947874	91947874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtaactgctaatgccGctaccaattctccttcatgt	5	12	3	0	rs367986134		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:91947874G>A	ENST00000375807.3	+	6	924	c.853G>A	c.(853-855)Gct>Act	p.A285T	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A212T|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A217T	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	285					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)	p.A285T(1)		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						TGCTAATGCCGCTACCAATTC	0.318																																					p.A285T		.											.	SECISBP2-93	1	Substitution - Missense(1)	ovary(1)	c.G853A						.	G	THR/ALA	0,4406		0,0,2203	91	86	88		853	0.1	0	9		88	3,8597	3.0+/-9.4	0,3,4297	no	missense	SECISBP2	NM_024077.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	285/855	91947874	3,13003	2203	4300	6503	SO:0001583	missense	79048	exon6			AATGCCGCTACCA	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.853G>A	9.37:g.91947874G>A	ENSP00000364965:p.Ala285Thr	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	38	4	NM_024077	0	0	26	26	0	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621061	0.14193	0.0	3.49E-4	ENSG00000187742	ENST00000375807;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.73469	-0.73;-0.75;-0.74;0.85	4.19	0.06	0.14334	.	.	.	.	.	T	0.45034	0.1322	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.27971	0.123;0.196;0.123;0.196	B;B;B;B	0.14578	0.005;0.011;0.005;0.011	T	0.22977	-1.0201	9	0.11485	T	0.65	-0.3552	2.3191	0.04206	0.099:0.1744:0.4081:0.3185	.	284;212;285;217	B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;SEBP2_HUMAN;.	T	285;212;217;120	ENSP00000364965:A285T;ENSP00000364959:A212T;ENSP00000436650:A217T;ENSP00000414288:A120T	ENSP00000364959:A212T	A	+	1	0	SECISBP2	91137694	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.108000	0.15396	0.013000	0.14918	0.650000	0.86243	GCT	.		0.318	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		A	91947874	G	A	91947874	3	1	56	1	0	0	0	0	1	0	0	0	14051	1087	38	1	875	1	SECISBP2	9	91947874	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	1601859	91947874	49265557	35	11773											
AKAP2	11217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	112899504	112899504	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgctgctcgcaaacaAtttcagctgatggagaattc	8	10	2	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:112899504A>T	ENST00000259318.7	+	2	1194	c.987A>T	c.(985-987)caA>caT	p.Q329H	AKAP2_ENST00000374525.1_Missense_Mutation_p.Q418H|AKAP2_ENST00000434623.2_Missense_Mutation_p.Q418H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q560H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q560H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q560H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q560H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	329										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTCGCAAACAATTTCAGCTGA	0.527																																					p.Q560H		.											.	PALM2-AKAP2-475	0			c.A1680T						.						29	29	29					9																	112899504		2201	4300	6501	SO:0001583	missense	445815	exon8			CAAACAATTTCAG	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.987A>T	9.37:g.112899504A>T	ENSP00000259318:p.Gln329His	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	70	13	NM_007203	0	0	18	26	8	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702850	0.48307	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	6.07	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.70275	2.135	0.45567	D	0.998516	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.997;0.998;0.979;0.998;0.995;0.984;0.984;0.965	T	0.70494	-0.4856	10	0.87932	D	0	-28.9006	8.8844	0.35394	0.287:0.0:0.713:0.0	.	329;418;412;418;419;560;560;378	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	H	560;560;560;560;418;418;378;329	ENSP00000363654:Q560H;ENSP00000305861:Q560H;ENSP00000451476:Q560H;ENSP00000421522:Q560H;ENSP00000404782:Q418H;ENSP00000363649:Q418H;ENSP00000419268:Q378H;ENSP00000259318:Q329H	ENSP00000259318:Q329H	Q	+	3	2	PALM2-AKAP2;AKAP2	111939325	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.976000	0.40579	0.427000	0.26145	-0.912000	0.02778	CAA	.		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		T	112899504	A	T	112899504	3	4	56	1	0	0	0	0	1	0	0	0	451	98	4	5	1260	5	AKAP2	9	112899504	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	20951630	112899504	28313927	36	11774											
GSN	2934	bcgsc.ca	37	chr9	124083614	124083614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggacagttctatggaggCgacagctacatcattctgta	10	8	3	0	rs2304393	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:124083614C>T	ENST00000373818.4	+	10	1482	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	GSN_ENST00000545652.1_Silent_p.G428G|GSN_ENST00000436847.1_Silent_p.G431G|GSN_ENST00000373808.2_Silent_p.G420G|GSN_ENST00000394353.2_Silent_p.G431G|GSN_ENST00000373823.3_Silent_p.G420G|GSN_ENST00000412819.1_Silent_p.G420G|GSN_ENST00000341272.2_Silent_p.G420G|GSN_ENST00000373807.1_Silent_p.G202G|GSN_ENST00000449733.1_Silent_p.G420G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	471	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCTATGGAGGCGACAGCTACA	0.547													C|||	428	0.0854633	0.0779	0.0418	5008	,	,		18140	0.1776		0.0457	False		,,,				2504	0.0726				p.G471G		.											.	GSN-154	0			c.C1413T						.	C	,,,,,,,	348,4058	181.2+/-209.3	18,312,1873	79	71	73		1413,1260,1260,1260,1260,1293,1293,1260	-10.1	0	9	dbSNP_100	73	344,8256	117.4+/-177.0	7,330,3963	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	25,642,5836	TT,TC,CC		4.0,7.8983,5.3206	,,,,,,,	471/783,420/732,420/732,420/732,420/732,431/743,431/743,420/732	124083614	692,12314	2203	4300	6503	SO:0001819	synonymous_variant	2934	exon10			TGGAGGCGACAGC	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1413C>T	9.37:g.124083614C>T		Somatic	133	1		WXS	Illumina GAIIx	Phase_I	95	6	NM_000177	0	0	286	286	0	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																			C|0.923;T|0.077		0.547	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		T	124083614	C	T	124083614	2	4	56	1	0	0	0	0	0	0	0	1	6852	755	27	1		1	GSN	9	124083614	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	11184110	124083614	17129817	37	11775											
NR5A1	2516	broad.mit.edu	37	chr9	127262468	127262468	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggccgaaggccgccggctgGtcggggcggcttttggtggg	21	10	0	0			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:127262468G>C	ENST00000373588.4	-	4	967	c.771C>G	c.(769-771)gaC>gaG	p.D257E		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	257	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CCGCCGGCTGGTCGGGGCGGC	0.662																																					p.D257E		.											.	NR5A1-186	0			c.C771G						.						16	19	18					9																	127262468		2201	4293	6494	SO:0001583	missense	2516	exon4			CGGCTGGTCGGGG	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.771C>G	9.37:g.127262468G>C	ENSP00000362690:p.Asp257Glu	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	71	3	NM_004959	0	0	49	49	0	O15196|Q5T6F5	Missense_Mutation	SNP	ENST00000373588.4	37	CCDS6856.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130634	0.01756	.	.	ENSG00000136931	ENST00000373588;ENST00000373587	D;D	0.98550	-4.99;-1.75	4.94	-0.987	0.10249	Nuclear hormone receptor, ligand-binding (2);	0.159470	0.56097	N	0.000036	D	0.87136	0.6102	N	0.01576	-0.805	0.30202	N	0.798544	B	0.02656	0.0	B	0.04013	0.001	T	0.83275	-0.0041	10	0.02654	T	1	.	3.2061	0.06666	0.0825:0.3491:0.244:0.3243	.	257	Q13285	STF1_HUMAN	E	257;41	ENSP00000362690:D257E;ENSP00000362689:D41E	ENSP00000362689:D41E	D	-	3	2	NR5A1	126302289	0.958000	0.32768	0.979000	0.43373	0.261000	0.26267	0.005000	0.13129	0.087000	0.17167	0.655000	0.94253	GAC	.		0.662	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		C	127262468	G	C	127262468	3	2	56	1	0	0	0	0	1	0	0	0	10674	1252	44	3	630	3	NR5A1	9	127262468	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	3178854	127262468	13950963	38	11776											
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	137676893	137676893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaaggcccaaagggtcGcggaggtcccaatggtgacc	14	13	0	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:137676893G>A	ENST00000371817.3	+	30	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	848	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)		CCAAAGGGTCGCGGAGGTCCC	0.637																																					p.R848H		.											.	COL5A1-524	0			c.G2543A						.						37	43	41					9																	137676893		2203	4299	6502	SO:0001583	missense	1289	exon30			AGGGTCGCGGAGG	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.2543G>A	9.37:g.137676893G>A	ENSP00000360882:p.Arg848His	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	56	7	NM_000093	0	0	6	9	3	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.174704	0.78452	.	.	ENSG00000130635	ENST00000371817	D	0.96992	-4.2	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000002	D	0.96439	0.8838	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97184	0.9853	10	0.59425	D	0.04	.	15.7525	0.77997	0.0:0.0:1.0:0.0	.	848	P20908	CO5A1_HUMAN	H	848	ENSP00000360882:R848H	ENSP00000360882:R848H	R	+	2	0	COL5A1	136816714	1.000000	0.71417	0.987000	0.45799	0.554000	0.35429	6.593000	0.74100	1.999000	0.58509	0.298000	0.19748	CGC	.		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137676893	G	A	137676893	3	1	56	1	0	0	0	0	1	0	0	0	3703	1087	38	1	2661	1	COL5A1	9	137676893	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	10414425	137676893	3536538	39	11777											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	15	3	2	4	rs79064394		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	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		.											.	CSGALNACT2-69	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	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	140	4	NM_018590	0	0	9	9	0	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	56	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		43659419	91875328	40	11778											
ARHGAP22	58504	hgsc.bcm.edu	37	chr10	49659006	49659006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaggtcctgtgcgcgGgcaggccggggccgccgggc	22	12	0	1	rs80345791	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:49659006G>A	ENST00000249601.4	-	9	1462	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P222L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P299L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P230L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P405L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P280L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P395L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	389					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTGCGCGGGCAGGCCGGG	0.761													G|||	40	0.00798722	8e-04	0.0115	5008	,	,		12686	0		0.0288	False		,,,				2504	0.002				p.P405L		.											.	ARHGAP22-228	0			c.C1214T						.	G	LEU/PRO	9,4077		0,9,2034	5	6	6		1166	4.3	0.5	10	dbSNP_131	6	110,7946		2,106,3920	no	missense	ARHGAP22	NM_021226.2	98	2,115,5954	AA,AG,GG		1.3654,0.2203,0.9801	benign	389/699	49659006	119,12023	2043	4028	6071	SO:0001583	missense	58504	exon9			TGCGCGGGCAGGC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1166C>T	10.37:g.49659006G>A	ENSP00000249601:p.Pro389Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	10	NM_001256024	0	0	0	2	2	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	29	0.013278388278388278	0	0.0	7	0.019337016574585635	0	0.0	22	0.029023746701846966	G	8.393	0.840164	0.16891	0.002203	0.013654	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.26518	2.87;2.54;1.73;2.13;2.53;2.83;2.88	5.2	4.3	0.51218	.	0.373141	0.31123	N	0.008203	T	0.10809	0.0264	M	0.72894	2.215	0.18873	N	0.999982	B;B;B;B;B;B	0.29188	0.001;0.001;0.037;0.002;0.002;0.236	B;B;B;B;B;B	0.30251	0.003;0.004;0.024;0.004;0.007;0.113	T	0.07501	-1.0769	10	0.35671	T	0.21	.	10.957	0.47364	0.0867:0.0:0.9133:0.0	.	395;389;405;389;299;222	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	L	389;280;230;222;299;395;405	ENSP00000249601:P389L;ENSP00000363287:P280L;ENSP00000363285:P230L;ENSP00000422868:P222L;ENSP00000410054:P299L;ENSP00000416701:P395L;ENSP00000412461:P405L	ENSP00000249601:P389L	P	-	2	0	ARHGAP22	49329012	0.179000	0.23135	0.481000	0.27354	0.053000	0.15095	1.605000	0.36815	1.204000	0.43247	0.313000	0.20887	CCC	G|0.987;A|0.013		0.761	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		A	49659006	G	A	49659006	3	1	56	1	0	0	0	0	1	0	0	0	872	1232	43	3	938	3	ARHGAP22	10	49659006	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	5999587	49659006	85875741	41	11779											
GLUD1	2746	broad.mit.edu	37	chr10	88817461	88817461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccgatatcctgtctTggaactctgccgtgggtaca	9	13	3	0			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:88817461T>C	ENST00000277865.4	-	11	1577	c.1481A>G	c.(1480-1482)cAa>cGa	p.Q494R	GLUD1_ENST00000544149.1_Missense_Mutation_p.Q361R|GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000537649.1_Missense_Mutation_p.Q327R	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	494					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TATCCTGTCTTGGAACTCTGC	0.438																																					p.Q494R		.											.	GLUD1-90	0			c.A1481G	GRCh37	CM001179	GLUD1	M		.						201	180	187					10																	88817461		2203	4300	6503	SO:0001583	missense	2746	exon11			CTGTCTTGGAACT	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1481A>G	10.37:g.88817461T>C	ENSP00000277865:p.Gln494Arg	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	82	4	NM_005271	0	0	0	0	0	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686598	0.47991	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96265	-3.96;-3.96;-3.96	4.98	4.98	0.66077	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92335	0.7568	N	0.25647	0.755	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.12156	0.003;0.007	D	0.89108	0.3494	10	0.28530	T	0.3	.	14.996	0.71431	0.0:0.0:0.0:1.0	.	361;494	B4DGN5;P00367	.;DHE3_HUMAN	R	494;451;327;193;426;361	ENSP00000277865:Q494R;ENSP00000439291:Q327R;ENSP00000444732:Q361R	ENSP00000277865:Q494R	Q	-	2	0	GLUD1	88807441	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.669000	0.83911	2.011000	0.59026	0.248000	0.18094	CAA	.		0.438	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		C	88817461	T	C	88817461	3	2	56	1	0	0	0	0	1	0	0	0	6502	1812	63	4	207	4	GLUD1	10	88817461	Missense_Mutation	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	39158455	88817461	46717286	42	11780											
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96163039	96163039	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgactcgggggacagcccCgccagcagctgcagcagtag	15	14	0	0	rs2477534	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2	3	3		669	-2	0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96163039	C	G	96163039	2	3	56	1	0	0	0	0	0	0	0	1	15648	639	23	2		2	TBC1D12	10	96163039	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	7345578	96163039	39371708	43	11781											
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	129913821	129913821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgcgagaccaacagttggGtctccccctgtaaaccatca	8	14	2	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:129913821G>T	ENST00000368654.3	-	7	1226	c.851C>A	c.(850-852)aCc>aAc	p.T284N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	284					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)				CAACAGTTGGGTCTCCCCCTG	0.458																																					p.T284N		.											.	MKI67-519	0			c.C851A						.						89	94	92					10																	129913821		2203	4300	6503	SO:0001583	missense	4288	exon7			AGTTGGGTCTCCC	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.851C>A	10.37:g.129913821G>T	ENSP00000357643:p.Thr284Asn	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	69	40	NM_002417	0	0	0	0	0	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654793	0.47467	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23754	1.89	3.59	-0.799	0.10901	.	0.785086	0.11327	N	0.575439	T	0.14917	0.0360	L	0.32530	0.975	0.09310	N	1	B	0.24963	0.115	B	0.19666	0.026	T	0.28650	-1.0037	10	0.87932	D	0	.	1.5943	0.02660	0.1148:0.1824:0.3177:0.3851	.	284	P46013	KI67_HUMAN	N	284	ENSP00000357643:T284N	ENSP00000357643:T284N	T	-	2	0	MKI67	129803811	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.204000	0.17335	-0.133000	0.11537	0.655000	0.94253	ACC	.		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129913821	G	T	129913821	3	4	56	1	0	0	0	0	1	0	0	0	9636	1261	44	3	8955	3	MKI67	10	129913821	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	33750782	129913821	5620926	44	11782											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134218296	134218296	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccccccgagaccaccCgccccgagccacccccgccc	7	26	1	1	rs10747057	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:134218296C>G	ENST00000305233.5	+	2	351	c.292C>G	c.(292-294)Cgc>Ggc	p.R98G	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R98G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	98	Pro-rich.		R -> G (in dbSNP:rs10747057). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGAGACCACCCGCCCCGAGCC	0.756													G|||	2967	0.592452	0.7065	0.5461	5008	,	,		5878	0.6954		0.4563	False		,,,				2504	0.5051				p.R98G		.											.	PWWP2B-90	0			c.C292G						.	G	GLY/ARG,GLY/ARG	2822,1070		1079,664,203	6	9	8		292,292	2.8	0	10	dbSNP_120	8	3931,3905		1096,1739,1083	no	missense,missense	PWWP2B	NM_001098637.1,NM_138499.3	125,125	2175,2403,1286	GG,GC,CC		49.8341,27.4923,42.4198	benign,benign	98/500,98/591	134218296	6753,4975	1946	3918	5864	SO:0001583	missense	170394	exon2			ACCACCCGCCCCG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.292C>G	10.37:g.134218296C>G	ENSP00000306324:p.Arg98Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_001098637	0	0	0	21	21	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	1241	0.5682234432234432	337	0.6849593495934959	177	0.4889502762430939	394	0.6888111888111889	333	0.4393139841688654	G	0.032	-1.327586	0.01309	0.725077	0.501659	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54675	0.56;1.56	2.77	2.77	0.32553	.	1.934230	0.03132	N	0.165319	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.23302	T	0.38	0.1321	1.7392	0.02948	0.1217:0.2122:0.4474:0.2187	rs10747057;rs57970936	98	Q6NUJ5	PWP2B_HUMAN	G	98	ENSP00000306324:R98G;ENSP00000357598:R98G	ENSP00000306324:R98G	R	+	1	0	PWWP2B	134068286	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.230000	0.02942	0.744000	0.32741	-0.224000	0.12420	CGC	C|0.431;G|0.569		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		G	134218296	C	G	134218296	3	3	56	1	0	0	0	0	1	0	0	0	12891	652	23	2	298	2	PWWP2B	10	134218296	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	4304475	134218296	1316451	45	11783											
PWWP2B	170394	hgsc.bcm.edu	37	chr10	134219045	134219045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagcgagcacgagccCgtgtaccgggccgagctggt	18	12	0	0	rs11146364	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16	21	20		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001098637	0	0	2	65	63	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		T	134219045	C	T	134219045	2	4	56	1	0	0	0	0	0	0	0	1	12891	639	23	1		1	PWWP2B	10	134219045	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	749	134219045	1315702	46	11784											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	97	6	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	56	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10		1253980	133752536	47	11785											
ANO5	203859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	22279254	22279254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttacatgcctctatacaCgcgtattccatggtactttc	5	13	1	0	rs148698633		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:22279254C>T	ENST00000324559.8	+	14	1678	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	454					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTATACACGCGTATTCCA	0.373													C|||	1	0.000199681	0	0	5008	,	,		19759	0.001		0	False		,,,				2504	0				p.T454M		.											.	ANO5-515	0			c.C1361T						.	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	166	156	159		1358,1361	-4.1	0	11	dbSNP_134	159	0,8600		0,0,4300	yes	missense,missense	ANO5	NM_001142649.1,NM_213599.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	453/913,454/914	22279254	1,13005	2203	4300	6503	SO:0001583	missense	203859	exon14			TATACACGCGTAT	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1361C>T	11.37:g.22279254C>T	ENSP00000315371:p.Thr454Met	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	87	42	NM_213599	0	0	0	6	6		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	8.271	0.813309	0.16537	2.27E-4	0.0	ENSG00000171714	ENST00000324559	T	0.64085	-0.08	5.71	-4.14	0.03892	.	0.567977	0.21905	N	0.067400	T	0.36853	0.0982	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.21708	0.036	T	0.09378	-1.0677	10	0.45353	T	0.12	.	7.3399	0.26632	0.3349:0.2129:0.4521:0.0	.	454	Q75V66	ANO5_HUMAN	M	454	ENSP00000315371:T454M	ENSP00000315371:T454M	T	+	2	0	ANO5	22235830	0.113000	0.22115	0.000000	0.03702	0.068000	0.16541	0.881000	0.28173	-1.272000	0.02427	0.460000	0.39030	ACG	C|1.000;T|0.000		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		T	22279254	C	T	22279254	3	4	56	1	0	0	0	0	1	0	0	0	700	536	19	1	1415	1	ANO5	11	22279254	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	21025274	22279254	112727262	48	11786											
CST6	1474	hgsc.bcm.edu	37	chr11	65779590	65779590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgccacgcgaCgcccgggcccggccgcagga	15	19	0	0	rs1131544	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5	6	5		75	-4.6	0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65779590	C	T	65779590	2	4	56	1	0	0	0	0	0	0	0	1	3985	535	19	1		1	CST6	11	65779590	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	43500336	65779590	69226926	49	11787											
TNFRSF1A	7132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6439136	6439136	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgaaggtggaactggGcacgggactgaagcccaggg	20	7	0	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:6439136G>C	ENST00000162749.2	-	9	1164	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P246A|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	289					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						gtggaactgggcacgggactg	0.622																																					p.P289A		.											.	TNFRSF1A-659	0			c.C865G						.						37	42	41					12																	6439136		2192	4289	6481	SO:0001583	missense	7132	exon9			AACTGGGCACGGG	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.865C>G	12.37:g.6439136G>C	ENSP00000162749:p.Pro289Ala	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	38	14	NM_001065	0	0	185	319	134	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	g	6.123	0.390999	0.11581	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.92752	-3.1;-3.06	3.35	2.46	0.29980	.	3.595680	0.00695	N	0.000740	D	0.87434	0.6176	L	0.34521	1.04	0.09310	N	0.999999	P;B	0.37955	0.612;0.278	B;B	0.35182	0.197;0.084	T	0.77362	-0.2616	9	.	.	.	-4.6013	6.6302	0.22853	0.1354:0.0:0.8646:0.0	.	246;289	F5H061;P19438	.;TNR1A_HUMAN	A	289;246	ENSP00000162749:P289A;ENSP00000438343:P246A	.	P	-	1	0	TNFRSF1A	6309397	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.019000	0.12546	0.741000	0.32674	0.556000	0.70494	CCC	.		0.622	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		C	6439136	G	C	6439136	3	2	56	1	0	0	0	0	1	0	0	0	16340	1203	42	3	510	3	TNFRSF1A	12	6439136	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		6439136	127412759	50	11788											
LAG3	3902	hgsc.bcm.edu	37	chr12	6887493	6887494	+	In_Frame_Ins	INS	-	-	CCGGAG													tagaggagctggagcaagaaINSccggagccggagccggagcc							TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:6887493_6887494insCCGGAG	ENST00000203629.2	+	8	1848_1849	c.1515_1516insCCGGAG	c.(1516-1518)ccg>CCGGAGccg	p.506_506P>PEP		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	506	12 X 2 AA tandem repeats of E-X.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAGCAAGAAccggagccgga	0.629																																					p.E505delinsEPE		.											.	LAG3-90	0			c.1515_1516insCCGGAG						.																																			SO:0001652	inframe_insertion	3902	exon8			GCAAGAACCGGAG		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1528_1533dupCCGGAG	12.37:g.6887494_6887499dupCCGGAG	ENSP00000203629:p.GluPro522dup	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	84	22	NM_002286	0	0	0	0	0	A8K7T9|Q7Z643	In_Frame_Ins	INS	ENST00000203629.2	37	CCDS8561.1																																																																																			.		0.629	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			CCGGAG	6887494	-	CCGGAG	6887493	7	5	56	1	0	1	1	0	0	0	0	0	8628	40	2	0	1545	0	LAG3	12	6887493	In_Frame_Ins	INS	-	TCGA-OR-A5LP-01A-11D-A29I-10	448357	6887493	126964402	51	11789											
LRIG3	121227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	59268001	59268001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgatatattactgaagCtccgttcgcaggattcttct	8	11	2	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:59268001C>T	ENST00000320743.3	-	18	3237	c.2951G>A	c.(2950-2952)aGc>aAc	p.S984N	LRIG3_ENST00000379141.4_Missense_Mutation_p.S924N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	984					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTACTGAAGCTCCGTTCGCA	0.418			T	ROS1	NSCLC																																p.S984N		.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	LRIG3-229	0			c.G2951A						.						95	93	93					12																	59268001		2203	4300	6503	SO:0001583	missense	121227	exon18			CTGAAGCTCCGTT	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2951G>A	12.37:g.59268001C>T	ENSP00000326759:p.Ser984Asn	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	227	76	NM_153377	0	0	8	14	6	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	1.776	-0.483255	0.04383	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.59224	0.31;0.28	5.83	2.68	0.31781	.	0.591077	0.14258	N	0.330966	T	0.27384	0.0672	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	9	.	.	.	.	8.102	0.30863	0.0:0.647:0.0:0.353	.	924;984	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	924;984	ENSP00000368436:S924N;ENSP00000326759:S984N	.	S	-	2	0	LRIG3	57554268	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.332000	0.19751	0.818000	0.34468	-0.142000	0.14014	AGC	.		0.418	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		T	59268001	C	T	59268001	3	4	56	1	0	0	0	0	1	0	0	0	8981	797	28	3	416	3	LRIG3	12	59268001	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	52380508	59268001	74583894	52	11790											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763699	120763700	+	Frame_Shift_Ins	INS	-	-	A													cgggggtgcctgagccccccINSaagccacagtagcagccgta					rs376517815|rs78096484		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:120763699_120763700insA	ENST00000308366.4	-	2	193_194	c.158_159insT	c.(157-159)ttgfs	p.L53fs	PLA2G1B_ENST00000549767.1_Frame_Shift_Ins_p.L24fs|PLA2G1B_ENST00000423423.3_Frame_Shift_Ins_p.L53fs	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	53					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L53fs	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	.											.	PLA2G1B-91	0			c.159_160insT						.																																			SO:0001589	frameshift_variant	5319	exon2			GCCCCCCAAGCCA		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.159dupT	12.37:g.120763701_120763701dupA	ENSP00000312286:p.Leu53fs	Somatic	98	0	1506	WXS	Illumina GAIIx	Phase_I	129	19	NM_000928	0	0	0	0	0	B2R4H5|Q3KPI1	Frame_Shift_Ins	INS	ENST00000308366.4	37	CCDS9195.1																																																																																			.		0.614	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			A	120763700	-	A	120763699	7	5	56	1	0	1	1	0	0	0	0	0	12033	593	21	0	299	0	PLA2G1B	12	120763699	Frame_Shift_Ins	INS	-	TCGA-OR-A5LP-01A-11D-A29I-10	61495698	120763699	13088196	53	11791											
TMCO3	55002	bcgsc.ca	37	chr13	114152755	114152755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtttatccatgcttgaCgagattcttgaagatgtaag	9	6	1	4	rs2260218	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr13:114152755C>T	ENST00000434316.2	+	3	902	c.543C>T	c.(541-543)gaC>gaT	p.D181D	TMCO3_ENST00000375391.1_Silent_p.D181D|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	181						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCATGCTTGACGAGATTCTTG	0.398													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		19525	0.1488		0.1292	False		,,,				2504	0.1053				p.D181D		.											.	TMCO3-90	0			c.C543T						.	C		1511,2895	481.5+/-359.1	256,999,948	133	130	131		543	-3.9	0	13	dbSNP_100	131	1089,7511	226.6+/-262.3	62,965,3273	no	coding-synonymous	TMCO3	NM_017905.4		318,1964,4221	TT,TC,CC		12.6628,34.2941,19.9908		181/678	114152755	2600,10406	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon3			GCTTGACGAGATT	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.543C>T	13.37:g.114152755C>T		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	99	8	NM_017905	0	0	37	37	0	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.795;T|0.205		0.398	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		T	114152755	C	T	114152755	2	4	56	1	0	0	0	0	0	0	0	1	16044	535	19	1		1	TMCO3	13	114152755	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		114152755	1017123	54	11792											
ATP10A	57194	bcgsc.ca	37	chr15	25926186	25926186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctggaaggcggcgtcGgccatgttaaaccagaacgt	14	10	1	1	rs2076743	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr15:25926186G>A	ENST00000356865.6	-	18	3639	c.3528C>T	c.(3526-3528)gcC>gcT	p.A1176A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1176					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCGGCGTCGGCCATGTTAA	0.512													G|||	3395	0.677915	0.8094	0.7147	5008	,	,		17707	0.6121		0.6123	False		,,,				2504	0.6094				p.A1176A		.											.	ATP10A-139	0			c.C3528T						.	G		3525,881	742.5+/-411.4	1413,699,91	84	81	82		3528	-9.7	0	15	dbSNP_96	82	5320,3280	647.2+/-400.4	1655,2010,635	no	coding-synonymous	ATP10A	NM_024490.3		3068,2709,726	AA,AG,GG		38.1395,19.9955,31.9929		1176/1500	25926186	8845,4161	2203	4300	6503	SO:0001819	synonymous_variant	57194	exon18			GGCGTCGGCCATG	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3528C>T	15.37:g.25926186G>A		Somatic	242	4		WXS	Illumina GAIIx	Phase_I	216	7	NM_024490	0	0	3	3	0	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			G|0.329;A|0.671		0.512	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25926186	G	A	25926186	2	1	56	1	0	0	0	0	0	0	0	1	1117	1103	39	1		1	ATP10A	15	25926186	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		25926186	76605206	55	11793											
KBTBD13	390594	hgsc.bcm.edu	37	chr15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgagctgctgcaggCcgtggagtgcgccgccttcc	17	13	0	0	rs2919358	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2	3	2		242	4.6	1	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369395	C	T	65369395	3	4	56	1	0	0	0	0	1	0	0	0	8019	739	26	3	244	3	KBTBD13	15	65369395	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	39443209	65369395	37161997	56	11794											
SOLH	6650	hgsc.bcm.edu	37	chr16	597453	597453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctccacctggcctcccCggggaaggtgccgaggccaa	14	17	0	0	rs141612773		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr16:597453C>T	ENST00000219611.2	+	4	978	c.615C>T	c.(613-615)ccC>ccT	p.P205P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	205					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGCCTCCCCGGGGAAGGTG	0.741																																					p.P205P		.											.	SOLH-523	0			c.C615T						.						6	10	9					16																	597453		1986	3998	5984	SO:0001819	synonymous_variant	6650	exon4			CCTCCCCGGGGAA	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.615C>T	16.37:g.597453C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	9	NM_005632	0	0	3	10	7	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			C|0.999;T|0.001		0.741	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		T	597453	C	T	597453	2	4	56	1	0	0	0	0	0	0	0	1	14970	639	23	1		1	SOLH	16	597453	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		597453	89757300	57	11795											
SPIRE2	84501	bcgsc.ca	37	chr16	89921057	89921057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacaagctgcgcaaggtcAtggtgagcggggcagacgca	15	10	1	2	rs139065194		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr16:89921057A>G	ENST00000378247.3	+	5	932	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	SPIRE2_ENST00000393062.2_Missense_Mutation_p.M297V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	297					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)		GCGCAAGGTCATGGTGAGCGG	0.652																																					p.M297V		.											.	SPIRE2-90	0			c.A889G						.	A	VAL/MET	0,4390		0,0,2195	61	62	62		889	5.2	1	16	dbSNP_134	62	1,8589	1.2+/-3.3	0,1,4294	yes	missense	SPIRE2	NM_032451.1	21	0,1,6489	GG,GA,AA		0.0116,0.0,0.0077	benign	297/715	89921057	1,12979	2195	4295	6490	SO:0001583	missense	84501	exon5			AAGGTCATGGTGA	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.889A>G	16.37:g.89921057A>G	ENSP00000367494:p.Met297Val	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	202	19	NM_032451	0	0	0	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040345	0.75732	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.49139	0.79;0.79	5.22	5.22	0.72569	.	0.035075	0.85682	D	0.000000	T	0.58793	0.2147	M	0.71036	2.16	0.80722	D	1	B;P;B	0.46859	0.095;0.885;0.095	B;P;B	0.51229	0.09;0.663;0.09	T	0.62779	-0.6782	10	0.54805	T	0.06	-57.4475	14.2172	0.65800	1.0:0.0:0.0:0.0	.	297;249;297	Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	V	297	ENSP00000367494:M297V;ENSP00000376782:M297V	ENSP00000367494:M297V	M	+	1	0	SPIRE2	88448558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.611000	0.61162	2.106000	0.64143	0.459000	0.35465	ATG	A|1.000;G|0.000		0.652	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		G	89921057	A	G	89921057	3	3	56	1	0	0	0	0	1	0	0	0	15119	217	8	4	907	4	SPIRE2	16	89921057	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	89323604	89921057	433696	58	11796											
C17orf97	400566	hgsc.bcm.edu	37	chr17	260182	260182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctgagagtcgccgaTtagtcggcatcgggcctcgg	15	13	0	1	rs7502594	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000599026.1_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3	4	4		49	2.9	0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_001013672	0	0	0	1	1	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		C	260182	T	C	260182	2	2	56	1	0	0	0	0	0	0	0	1	1899	1490	52	4		4	C17orf97	17	260182	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10		260182	80935028	59	11797											
SMG6	23293	ucsc.edu	37	chr17	2203570	2203570	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctccacccgactggcGgattctttgctaacagtctg	8	15	2	0	rs150211793	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:2203570G>C	ENST00000263073.6	-	2	527	c.477C>G	c.(475-477)tcC>tcG	p.S159S	SMG6_ENST00000544865.1_Silent_p.S128S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	159	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCGACTGGCGGATTCTTTGC	0.473																																					p.S159S	Melanoma(59;28 1088 11621 25887 46638 50814)	.											.	SMG6-228	0			c.C477G						.						150	164	159					17																	2203570		2203	4300	6503	SO:0001819	synonymous_variant	23293	exon2			ACTGGCGGATTCT	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.477C>G	17.37:g.2203570G>C		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	29	4	NM_017575	0	0	12	12	0	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																			G|1.000;A|0.000		0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			C	2203570	G	C	2203570	2	2	56	1	0	0	0	0	0	0	0	1	14842	1103	39	2		2	SMG6	17	2203570	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	1943388	2203570	78991640	60	11798											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctcctggcagaggtctCggccacagccttggtgagag	15	11	2	2	rs9897031	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685				p.R17Q		.											.	.	0			c.G50A						.	T	GLN/ARG	1290,94		606,78,8	33	36	35		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240	exon1			AGGTCTCGGCCAC	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	167	6	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA	C|0.308;T|0.692		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274518	C	T	39274518	3	4	56	1	0	0	0	0	1	0	0	0	8577	884	31	1	541	1	KRTAP4-11	17	39274518	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	37070948	39274518	41920692	61	11799											
HSD17B1	3292	hgsc.bcm.edu	37	chr17	40706906	40706906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggacgaggccgggcgcGgtgcggtgggggaccctgag	22	10	0	2	rs605059	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:40706906G>A	ENST00000585807.1	+	6	4657	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G314S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	313			G -> S (in dbSNP:rs605059). {ECO:0000269|PubMed:1327779, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2197970, ECO:0000269|PubMed:2330005, ECO:0000269|PubMed:2779584, ECO:0000269|PubMed:2846351, ECO:0000269|PubMed:8389226, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCCGGGCGCGGTGCGGTGGG	0.736													A|||	2617	0.522564	0.4849	0.4942	5008	,	,		11834	0.4534		0.5249	False		,,,				2504	0.6626				p.G313S		.											.	HSD17B1-90	0			c.G937A	GRCh37	CM057951	HSD17B1	M	rs605059	.	A	SER/GLY	2209,1645		683,843,401	3	5	4		937	-1.2	0	17	dbSNP_83	4	4593,3023		1489,1615,704	no	missense	HSD17B1	NM_000413.2	56	2172,2458,1105	AA,AG,GG		39.6928,42.6829,40.6975	benign	313/329	40706906	6802,4668	1927	3808	5735	SO:0001583	missense	3292	exon6			GGGCGCGGTGCGG		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.937G>A	17.37:g.40706906G>A	ENSP00000466799:p.Gly313Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_000413	0	0	0	0	0	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	1065	0.4876373626373626	249	0.5060975609756098	161	0.4447513812154696	257	0.4493006993006993	398	0.525065963060686	A	1.679	-0.506941	0.04231	0.573171	0.603072	ENSG00000108786	ENST00000225929	.	.	.	0.605	-1.21	0.09524	.	15.510600	0.00792	N	0.001347	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49916	-0.8888	7	0.15952	T	0.53	.	.	.	.	rs605059;rs58087383	344;313	B3RFR9;P14061	.;DHB1_HUMAN	S	313	.	ENSP00000225929:G313S	G	+	1	0	HSD17B1	37960432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.026000	0.03596	-2.560000	0.00474	-1.912000	0.00520	GGT	G|0.505;A|0.495		0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		A	40706906	G	A	40706906	3	1	56	1	0	0	0	0	1	0	0	0	7405	1116	39	1	959	1	HSD17B1	17	40706906	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	1432388	40706906	40488304	62	11800											
COG1	9382	bcgsc.ca	37	chr17	71197439	71197439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatgcggcctgggtcagCgtggcaaaccggggtcagtt	16	11	2	0	rs1551036	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:71197439C>T	ENST00000299886.4	+	7	1553	c.1473C>T	c.(1471-1473)agC>agT	p.S491S		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	491					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)			CCTGGGTCAGCGTGGCAAACC	0.532													C|||	660	0.131789	0.0083	0.1225	5008	,	,		20222	0.1746		0.1958	False		,,,				2504	0.1953				p.S491S		.											.	COG1-91	0			c.C1473T						.	C		172,4234	112.5+/-150.6	5,162,2036	139	129	132		1473	-2.5	0	17	dbSNP_88	132	1661,6939	304.5+/-307.0	178,1305,2817	no	coding-synonymous	COG1	NM_018714.2		183,1467,4853	TT,TC,CC		19.314,3.9038,14.0935		491/981	71197439	1833,11173	2203	4300	6503	SO:0001819	synonymous_variant	9382	exon7			GGTCAGCGTGGCA		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.1473C>T	17.37:g.71197439C>T		Somatic	137	1		WXS	Illumina GAIIx	Phase_I	104	6	NM_018714	0	0	18	18	0	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																			C|0.867;N|0.001		0.532	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			T	71197439	C	T	71197439	2	4	56	1	0	0	0	0	0	0	0	1	3664	767	27	1		1	COG1	17	71197439	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	30490533	71197439	9997771	63	11801											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	56	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		70209321	7867927	64	11802											
ODF3L2	284451	hgsc.bcm.edu	37	chr19	464080	464080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggcggtaggtgtttgCgtccgggctgtcgtactggc	18	10	0	0	rs76592524	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6	7	7		634	2.7	1	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_182577	0	0	1	4	3	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		T	464080	C	T	464080	3	4	56	1	0	0	0	0	1	0	0	0	10871	768	27	1	239	1	ODF3L2	19	464080	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10		464080	58664903	65	11803											
POLRMT	5442	hgsc.bcm.edu	37	chr19	621561	621561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaccaggtccagcaCgcgcccgttgacgcgccagg	13	17	0	1	rs10421235	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:621561C>A	ENST00000588649.2	-	10	2221	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	713					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCAGCACGCGCCCGTTG	0.741													C|||	677	0.135184	0.2254	0.0461	5008	,	,		10089	0.0764		0.0258	False		,,,				2504	0.2495				p.V713L		.											.	POLRMT-92	0			c.G2137T						.	C	LEU/VAL	447,3185		14,419,1383	4	3	3		2137	2.1	0.5	19	dbSNP_119	3	143,6993		2,139,3427	no	missense	POLRMT	NM_005035.3	32	16,558,4810	AA,AC,CC		2.0039,12.3073,5.4792	benign	713/1231	621561	590,10178	1816	3568	5384	SO:0001583	missense	5442	exon10			CCAGCACGCGCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2137G>T	19.37:g.621561C>A	ENSP00000465759:p.Val713Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	15	NM_005035	0	0	10	21	11	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	179	0.08195970695970696	98	0.1991869918699187	23	0.06353591160220995	41	0.07167832167832168	17	0.022427440633245383	.	1.831	-0.469877	0.04445	0.123073	0.020039	ENSG00000099821	ENST00000215591	T	0.41400	1.0	4.38	2.07	0.26955	DNA-directed RNA polymerase, helix hairpin domain (1);	0.337088	0.28971	N	0.013545	T	0.00039	0.0001	L	0.28274	0.84	0.40284	P	0.021571000000000007	B	0.21520	0.057	B	0.21708	0.036	T	0.23226	-1.0194	9	0.10636	T	0.68	-21.1616	7.9361	0.29931	0.0:0.4845:0.4232:0.0923	rs10421235	713	O00411	RPOM_HUMAN	L	713	ENSP00000215591:V713L	ENSP00000215591:V713L	V	-	1	0	POLRMT	572561	0.015000	0.18098	0.490000	0.27465	0.466000	0.32739	0.069000	0.14552	0.409000	0.25649	0.455000	0.32223	GTG	C|0.918;A|0.082		0.741	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		A	621561	C	A	621561	3	1	56	1	0	0	0	0	1	0	0	0	12277	536	19	2	1603	2	POLRMT	19	621561	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	157481	621561	58507422	66	11804											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_019112	0	0	1	3	2	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	56	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	443483	1065044	58063939	67	11805											
ARRDC2	3780	hgsc.bcm.edu	37	chr19	18112361	18112361	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggagacctacctgcggCgtcggcagctgctgctccga	14	16	0	1	rs113540008	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:18112361C>T	ENST00000222249.9	+	0	3625				ARRDC2_ENST00000379656.3_Missense_Mutation_p.R80C	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						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)	CTACCTGCGGCGTCGGCAGCT	0.741													C|||	200	0.0399361	0.0318	0.0403	5008	,	,		8599	0.003		0.0746	False		,,,				2504	0.0532				p.R80C		.											.	ARRDC2-91	0			c.C238T						.	C	CYS/ARG	76,2440		1,74,1183	2	2	2		238	-0.2	0.3	19	dbSNP_132	2	257,4909		3,251,2329	yes	missense	ARRDC2	NM_001025604.1	180	4,325,3512	TT,TC,CC		4.9748,3.0207,4.3348		80/403	18112361	333,7349	1258	2583	3841	SO:0001628	intergenic_variant	27106	exon1			CTGCGGCGTCGGC	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			19.37:g.18112361C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_001025604	0	0	0	5	5	Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		74	0.03388278388278388	19	0.03861788617886179	16	0.04419889502762431	0	0.0	39	0.051451187335092345	C	18.53	3.644965	0.67358	0.030207	0.049748	ENSG00000105643	ENST00000379656	T	0.06528	3.29	3.58	-0.231	0.13086	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.53005	D	0.999967	D	0.76494	0.999	P	0.59948	0.866	T	0.29941	-0.9995	8	0.40728	T	0.16	.	3.6128	0.08066	0.3235:0.4746:0.0:0.2019	.	80	Q8TBH0-2	.	C	80	ENSP00000368977:R80C	ENSP00000368977:R80C	R	+	1	0	ARRDC2	17973361	0.531000	0.26338	0.311000	0.25182	0.952000	0.60782	0.358000	0.20216	0.164000	0.19529	0.491000	0.48974	CGT	C|0.966;T|0.034		0.741	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18112361	C	T	18112361	1	4	56	0	1	0	0	0	0	0	0	0	984	768	27	1		1	ARRDC2	19	18112361	IGR	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	17047317	18112361	41016622	68	11806											
GPATCH1	55094	bcgsc.ca	37	chr19	33579128	33579128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgattccacggggcctttagTggaggtttctctgctggata	13	9	1	0	rs7259333	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:33579128T>C	ENST00000170564.2	+	2	476	c.162T>C	c.(160-162)agT>agC	p.S54S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	54					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCCTTTAGTGGAGGTTTCT	0.363													C|||	2674	0.533946	0.8018	0.2867	5008	,	,		13444	0.5099		0.2416	False		,,,				2504	0.6728				p.S54S	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.T162C						.	C		3204,1202	416.7+/-337.7	1159,886,158	96	101	99		162	-4	0.7	19	dbSNP_116	99	2313,6287	705.1+/-405.5	284,1745,2271	no	coding-synonymous	GPATCH1	NM_018025.2		1443,2631,2429	CC,CT,TT		26.8953,27.281,42.4189		54/932	33579128	5517,7489	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			CTTTAGTGGAGGT	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.162T>C	19.37:g.33579128T>C		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	112	6	NM_018025	0	0	4	4	0	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			T|0.549;C|0.451		0.363	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33579128	T	C	33579128	2	2	56	1	0	0	0	0	0	0	0	1	6616	1693	59	4		4	GPATCH1	19	33579128	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	15466767	33579128	25549855	69	11807											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	FBXO17_ENST00000595329.1_Silent_p.P14P|CTC-360G5.8_ENST00000599996.1_5'Flank|SARS2_ENST00000448145.2_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	56	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	5861790	39440918	19688065	70	11808											
IRGC	56269	broad.mit.edu;bcgsc.ca	37	chr19	44223431	44223431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacctgccctcccaccggCgccacgctggcctgctgtcg	11	20	0	0			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:44223431C>T	ENST00000244314.5	+	2	920	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	241						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCCACCGGCGCCACGCTGG	0.647																																					p.R241C	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C721T						.						22	20	21					19																	44223431		2202	4300	6502	SO:0001583	missense	56269	exon2			CACCGGCGCCACG	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.721C>T	19.37:g.44223431C>T	ENSP00000244314:p.Arg241Cys	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	181	9	NM_019612	0	0	0	0	0	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733303	0.48939	.	.	ENSG00000124449	ENST00000244314	T	0.24908	1.83	5.83	3.67	0.42095	.	0.065830	0.56097	D	0.000025	T	0.24812	0.0602	L	0.59436	1.845	0.48975	D	0.999731	D	0.54047	0.964	B	0.43680	0.427	T	0.02625	-1.1132	10	0.52906	T	0.07	.	6.1023	0.20053	0.0:0.6803:0.1566:0.1631	.	241	Q6NXR0	IIGP5_HUMAN	C	241	ENSP00000244314:R241C	ENSP00000244314:R241C	R	+	1	0	IRGC	48915271	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	1.282000	0.33226	0.785000	0.33685	0.655000	0.94253	CGC	.		0.647	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		T	44223431	C	T	44223431	3	4	56	1	0	0	0	0	1	0	0	0	7865	768	27	1	723	1	IRGC	19	44223431	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	4782513	44223431	14905552	71	11809											
SIX5	147912	broad.mit.edu;bcgsc.ca	37	chr19	46269609	46269609	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggagggagatgggggtaccTggggcagtggccgaaggcag	23	6	0	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:46269609T>A	ENST00000317578.6	-	2	1989	c.1608A>T	c.(1606-1608)ccA>ccT	p.P536P	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	536					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGGGGTACCTGGGGCAGTGG	0.677																																					p.P536P		.											.	SIX5-91	0			c.A1608T						.						6	8	7					19																	46269609		2162	4233	6395	SO:0001630	splice_region_variant	147912	exon2			GGTACCTGGGGCA	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1609+1A>T	19.37:g.46269609T>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	81	5	NM_175875	0	0	2	2	0		Silent	SNP	ENST00000317578.6	37	CCDS12673.1																																																																																			.		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875	Silent	A	46269609	T	A	46269609	5	1	56	1	0	0	0	0	0	0	1	0	14395	1594	55	5	619	5	SIX5	19	46269609	Splice_Site	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	2046178	46269609	12859374	72	11810											
PTGIR	5739	hgsc.bcm.edu	37	chr19	47127324	47127324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggtggccgccagtccggtCaccagcaccgcgaaggccga	14	16	1	0	rs2229128	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3	5	5		159	2.2	1	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_000960	0	0	3	3	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47127324	C	G	47127324	2	3	56	1	0	0	0	0	0	0	0	1	12794	813	29	3		3	PTGIR	19	47127324	Silent	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	857715	47127324	12001659	73	11811											
PPFIA3	8541	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	49645325	49645325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcctgccgccagggcCtaccttttgctgcctgggac	14	14	0	0			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:49645325C>G	ENST00000334186.4	+	20	2846	c.2497C>G	c.(2497-2499)Cta>Gta	p.L833V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L833V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	833					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				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)		CCGCCAGGGCCTACCTTTTGC	0.642																																					p.L833V		.											.	PPFIA3-226	0			c.C2497G						.						25	20	22					19																	49645325		2201	4296	6497	SO:0001583	missense	8541	exon20			CAGGGCCTACCTT	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.2497C>G	19.37:g.49645325C>G	ENSP00000335614:p.Leu833Val	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	97	6	NM_003660	0	0	5	5	0	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061318	0.55432	.	.	ENSG00000177380	ENST00000334186	T	0.17691	2.26	4.87	4.87	0.63330	.	0.183475	0.24659	N	0.036643	T	0.22898	0.0553	M	0.77820	2.39	0.80722	D	1	B;B	0.15719	0.014;0.001	B;B	0.15052	0.012;0.001	T	0.03121	-1.1070	10	0.46703	T	0.11	-3.4865	11.53	0.50604	0.0:0.911:0.0:0.089	.	833;833	O75145-2;O75145	.;LIPA3_HUMAN	V	833	ENSP00000335614:L833V	ENSP00000335614:L833V	L	+	1	2	PPFIA3	54337137	0.619000	0.27059	1.000000	0.80357	0.994000	0.84299	1.298000	0.33412	2.438000	0.82558	0.551000	0.68910	CTA	.		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		G	49645325	C	G	49645325	3	3	56	1	0	0	0	0	1	0	0	0	12350	680	24	3	2571	3	PPFIA3	19	49645325	Missense_Mutation	SNP	C	TCGA-OR-A5LP-01A-11D-A29I-10	2518001	49645325	9483658	74	11812											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	20	11	1	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600910.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		Somatic	34	1		WXS	Illumina GAIIx	Phase_I	98	25	NM_007254	0	0	39	42	3	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		C	50370408	T	C	50370408	2	2	56	1	0	0	0	0	0	0	0	1	12186	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	725083	50370408	8758575	75	11813											
LILRA3	11026	bcgsc.ca	37	chr19	54804167	54804167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaggaccgtgaggatggGggtcatggcgtctcctccca	15	11	3	1	rs11574606	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:54804167G>A	ENST00000251390.3	-	1	98	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	LILRA3_ENST00000391745.1_Missense_Mutation_p.P20S|LILRA3_ENST00000391744.3_Missense_Mutation_p.P3S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	3			P -> S (in dbSNP:rs11574606). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9278324, ECO:0000269|PubMed:9548455}.		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGGATGGGGGTCATGGCG	0.592													G|||	314	0.0626997	0.0129	0.111	5008	,	,		14210	0.003		0.1829	False		,,,				2504	0.0337				p.P3S		.											.	LILRA3-91	0			c.C7T						.	G	SER/PRO,SER/PRO	124,4266		18,88,2089	129	98	109		7,7	-3.9	0	19	dbSNP_120	109	1433,6907		320,793,3057	yes	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	74,74	338,881,5146	AA,AG,GG		17.1823,2.8246,12.231	,	3/376,3/440	54804167	1557,11173	2195	4170	6365	SO:0001583	missense	11026	exon1			GGATGGGGGTCAT	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.7C>T	19.37:g.54804167G>A	ENSP00000251390:p.Pro3Ser	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	177	6	NM_001172654	0	0	1	1	0	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	172	0.07875457875457875	10	0.02032520325203252	38	0.10497237569060773	2	0.0034965034965034965	122	0.16094986807387862	G	12.13	1.845588	0.32606	0.028246	0.171823	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00745	5.75;5.79;5.77	1.96	-3.93	0.04143	.	1.147850	0.06558	N	0.746265	T	0.00012	0.0000	L	0.53617	1.68	0.80722	P	0.0	B;B;B	0.30542	0.106;0.284;0.027	B;B;B	0.32805	0.098;0.153;0.001	T	0.37197	-0.9716	9	0.45353	T	0.12	.	0.1575	0.00099	0.3149:0.1943:0.2667:0.2242	rs11574606;rs17852512	3;3;3	E7EU74;Q8N6C8;B5ME96	.;LIRA3_HUMAN;.	S	3;3;20	ENSP00000251390:P3S;ENSP00000375624:P3S;ENSP00000375625:P20S	ENSP00000251390:P3S	P	-	1	0	LILRA3	59495979	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.321000	0.08018	-0.876000	0.04017	0.485000	0.47835	CCC	G|0.907;A|0.093		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			A	54804167	G	A	54804167	3	1	56	1	0	0	0	0	1	0	0	0	8815	1232	43	3	1340	3	LILRA3	19	54804167	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	4433759	54804167	4324816	76	11814											
ZNF471	57573	broad.mit.edu	37	chr19	57036436	57036436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgatggctcgtcttttGctcgacatcagagatgtcac	10	10	4	2	rs75422502		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:57036436G>T	ENST00000308031.5	+	5	1133	c.1000G>T	c.(1000-1002)Gct>Tct	p.A334S	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L193F	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTCGTCTTTTGCTCGACATCA	0.443																																					p.A334S	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	.											.	ZNF471-154	0			c.G1000T						.						43	47	45					19																	57036436		2203	4300	6503	SO:0001583	missense	57573	exon5			TCTTTTGCTCGAC	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1000G>T	19.37:g.57036436G>T	ENSP00000309161:p.Ala334Ser	Somatic	79	10		WXS	Illumina GAIIx	Phase_I	94	20	NM_020813	0	0	2	4	2	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930052	0.34096	.	.	ENSG00000196263	ENST00000308031	T	0.03524	3.9	3.72	0.228	0.15364	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.20328	0.56	0.09310	N	1	B	0.25441	0.126	B	0.31946	0.138	T	0.48068	-0.9067	9	0.33141	T	0.24	.	4.2445	0.10665	0.4119:0.1702:0.4179:0.0	.	334	Q9BX82	ZN471_HUMAN	S	334	ENSP00000309161:A334S	ENSP00000309161:A334S	A	+	1	0	ZNF471	61728248	0.000000	0.05858	0.126000	0.21872	0.980000	0.70556	-0.929000	0.03976	0.260000	0.21731	0.462000	0.41574	GCT	.		0.443	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		T	57036436	G	T	57036436	3	4	56	1	0	0	0	0	1	0	0	0	17978	1319	46	3	1014	3	ZNF471	19	57036436	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	2232269	57036436	2092547	77	11815											
TCF15	6939	hgsc.bcm.edu	37	chr20	590456	590456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcactgcccgcggcAcggaagcacggctgcccgtc	13	18	0	0	rs282164	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7	8	8		426	-9	0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_004609	0	0	0	0	0	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		G	590456	A	G	590456	2	3	56	1	0	0	0	0	0	0	0	1	15735	146	6	4		4	TCF15	20	590456	Silent	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10		590456	62435064	78	11816											
OTOR	56914	hgsc.bcm.edu	37	chr20	16729548	16729548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctcaagaagattataAtgccccggactgtagattca	9	8	2	3			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:16729548A>G	ENST00000246081.2	+	2	196	c.152A>G	c.(151-153)aAt>aGt	p.N51S		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	51	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTATAATGCCCCGGAC	0.363																																					p.N51S		.											.	OTOR-206	0			c.A152G						.						64	66	65					20																	16729548		2203	4300	6503	SO:0001583	missense	56914	exon2			ATTATAATGCCCC	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.152A>G	20.37:g.16729548A>G	ENSP00000246081:p.Asn51Ser	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	48	4	NM_020157	0	0	0	0	0	D3DW22|Q3MIU6	Missense_Mutation	SNP	ENST00000246081.2	37	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	A	6.730	0.503380	0.12822	.	.	ENSG00000125879	ENST00000246081	T	0.09445	2.98	5.8	2.34	0.29019	Src homology-3 domain (2);Variant SH3 (1);	0.393903	0.30410	N	0.009699	T	0.07954	0.0199	L	0.38531	1.155	0.35154	D	0.770038	B	0.09022	0.002	B	0.14578	0.011	T	0.30937	-0.9961	10	0.19147	T	0.46	-9.8635	8.4721	0.32991	0.7855:0.0:0.2145:0.0	.	51	Q9NRC9	OTOR_HUMAN	S	51	ENSP00000246081:N51S	ENSP00000246081:N51S	N	+	2	0	OTOR	16677548	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	0.947000	0.29082	0.136000	0.18733	0.460000	0.39030	AAT	.		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			G	16729548	A	G	16729548	3	3	56	1	0	0	0	0	1	0	0	0	11347	101	4	4	158	4	OTOR	20	16729548	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	16139092	16729548	46295972	79	11817											
CST3	1471	hgsc.bcm.edu	37	chr20	23618488	23618488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagcggggcgcgcagGggcccggccatggtcggcta	20	12	0	0	rs1055084	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:23618488G>A	ENST00000398411.1	-	1	94	c.12C>T	c.(10-12)ccC>ccT	p.P4P	CST3_ENST00000376925.3_Silent_p.P4P|CST3_ENST00000398409.1_Silent_p.P4P			P01034	CYTC_HUMAN	cystatin C	4					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GGGCGCGCAGGGGCCCGGCCA	0.756													g|||	114	0.0227636	0.0015	0.0476	5008	,	,		7697	0		0.0696	False		,,,				2504	0.0092				p.P4P		.											.	CST3-91	0			c.C12T						.			35,2527		0,35,1246	2	2	2		12	-3	0	20	dbSNP_86	2	290,4772		2,286,2243	no	coding-synonymous	CST3	NM_000099.2		2,321,3489	AA,AG,GG		5.729,1.3661,4.2629		4/147	23618488	325,7299	1281	2531	3812	SO:0001819	synonymous_variant	1471	exon1			GCGCAGGGGCCCG		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.12C>T	20.37:g.23618488G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000099	0	0	294	644	350	B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	CCDS13158.1																																																																																			T|0.037;C|0.962		0.756	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099		A	23618488	G	A	23618488	2	1	56	1	0	0	0	0	0	0	0	1	3982	1219	43	3		3	CST3	20	23618488	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	6888940	23618488	39407032	80	11818											
MANBAL	63905	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35944722	35944722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcacaggaggctgaaccGtctgagcccagaagtgctga	12	12	2	4	rs368166811		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:35944722G>A	ENST00000373605.3	+	4	974	c.162G>A	c.(160-162)ccG>ccA	p.P54P	MANBAL_ENST00000397156.3_Silent_p.P54P|MANBAL_ENST00000373606.3_Silent_p.P54P|MANBAL_ENST00000397152.3_Silent_p.P54P|MANBAL_ENST00000397151.1_Silent_p.P54P|MANBAL_ENST00000397150.1_3'UTR			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	54						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				AGGCTGAACCGTCTGAGCCCA	0.502																																					p.P54P		.											.	MANBAL-90	0			c.G162A						.	G	,	1,4405	2.1+/-5.4	0,1,2202	55	53	53		162,162	-9.9	0	20		53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MANBAL	NM_001003897.1,NM_022077.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	54/86,54/86	35944722	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63905	exon3			TGAACCGTCTGAG		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.162G>A	20.37:g.35944722G>A		Somatic	265	1		WXS	Illumina GAIIx	Phase_I	335	107	NM_001003897	0	0	0	0	0	A8KAA6|E1P5V3	Silent	SNP	ENST00000373605.3	37	CCDS13293.1																																																																																			.		0.502	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		A	35944722	G	A	35944722	2	1	56	1	0	0	0	0	0	0	0	1	9258	1132	40	1		1	MANBAL	20	35944722	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	12326234	35944722	27080798	81	11819											
NRIP1	8204	broad.mit.edu	37	chr21	16337507	16337507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagtttttactacacctgGgtatgaaaatgtcctgttat	9	6	0	1			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:16337507G>T	ENST00000400202.1	-	3	3719	c.3007C>A	c.(3007-3009)Cca>Aca	p.P1003T	NRIP1_ENST00000400199.1_Missense_Mutation_p.P1003T|NRIP1_ENST00000318948.4_Missense_Mutation_p.P1003T|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1003	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACTACACCTGGGTATGAAAAT	0.463																																					p.P1003T		.											.	NRIP1-186	0			c.C3007A						.						57	52	53					21																	16337507		2203	4299	6502	SO:0001583	missense	8204	exon4			CACCTGGGTATGA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3007C>A	21.37:g.16337507G>T	ENSP00000383063:p.Pro1003Thr	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	34	3	NM_003489	0	0	12	12	0	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625995	0.46840	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.11930	2.73;2.73;2.73	5.87	4.95	0.65309	.	0.072360	0.56097	D	0.000040	T	0.11793	0.0287	N	0.24115	0.695	0.43321	D	0.995347	P	0.35575	0.51	B	0.39258	0.295	T	0.03193	-1.1062	10	0.66056	D	0.02	-8.4685	11.9385	0.52886	0.0677:0.1236:0.8087:0.0	.	1003	P48552	NRIP1_HUMAN	T	1003	ENSP00000383060:P1003T;ENSP00000383063:P1003T;ENSP00000327213:P1003T	ENSP00000327213:P1003T	P	-	1	0	NRIP1	15259378	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	3.914000	0.56401	2.941000	0.99782	0.655000	0.94253	CCA	.		0.463	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		T	16337507	G	T	16337507	3	4	56	1	0	0	0	0	1	0	0	0	10691	1232	43	3	473	3	NRIP1	21	16337507	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		16337507	31792388	82	11820											
RNF160	26046	ucsc.edu;bcgsc.ca	37	chr21	30341891	30341891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattactgccgaggactctAaagagctggttttagttctc	9	8	2	1	rs2254796	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:30341891A>G	ENST00000361371.5	-	9	1287	c.1208T>C	c.(1207-1209)tTa>tCa	p.L403S	LTN1_ENST00000389194.2_Missense_Mutation_p.L449S|LTN1_ENST00000389195.2_Missense_Mutation_p.L449S			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	403			L -> S (in dbSNP:rs2254796). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452, ECO:0000269|Ref.6}.		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						CGAGGACTCTAAAGAGCTGGT	0.343													G|||	3599	0.71865	0.8631	0.6614	5008	,	,		15657	0.8333		0.6024	False		,,,				2504	0.5654				p.L449S		.											.	LTN1-530	0			c.T1346C						.	G	SER/LEU	3576,828	326.7+/-299.7	1459,658,85	70	72	71		1346	4.9	1	21	dbSNP_100	71	4751,3849	540.6+/-383.8	1318,2115,867	yes	missense	LTN1	NM_015565.2	145	2777,2773,952	GG,GA,AA		44.7558,18.8011,35.9659	benign	449/1813	30341891	8327,4677	2202	4300	6502	SO:0001583	missense	26046	exon9			GACTCTAAAGAGC	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.1208T>C	21.37:g.30341891A>G	ENSP00000354977:p.Leu403Ser	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	45	5	NM_015565	0	0	1	1	0	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		1594	0.7298534798534798	419	0.8516260162601627	251	0.6933701657458563	477	0.833916083916084	447	0.5897097625329816	G	1.147	-0.647937	0.03506	0.811989	0.552442	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.64438	3.73;3.73;-0.1	4.91	4.91	0.64330	Armadillo-type fold (1);	0.077470	0.53938	N	0.000041	T	0.00012	0.0000	N	0.00621	-1.32	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	9	0.02654	T	1	.	11.0688	0.47991	0.0873:0.0:0.9127:0.0	rs2254796;rs52795528;rs61451660;rs2254796	403	O94822	LTN1_HUMAN	S	449;403;405;449	ENSP00000373846:L449S;ENSP00000354977:L403S;ENSP00000373847:L449S	ENSP00000354977:L403S	L	-	2	0	LTN1	29263762	1.000000	0.71417	0.993000	0.49108	0.345000	0.29048	4.344000	0.59354	1.456000	0.47831	-0.119000	0.15052	TTA	A|0.317;G|0.683		0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		G	30341891	A	G	30341891	3	3	56	1	0	0	0	0	1	0	0	0	13500	372	13	4	4180	4	RNF160	21	30341891	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	14004384	30341891	17788004	83	11821											
PLAC4	25825	bcgsc.ca	37	chr21	42551432	42551432	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggagtgacggtgtcTggggtgagtgagggtgtcca	22	4	1	4	rs5019194		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:42551432T>A	ENST00000330333.6	+	1	775				BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|BACE2-IT1_ENST00000433378.1_RNA|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000430327.2_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGACGGTGTCTGGGGTGAGTG	0.612																																					p.R42X		.											.	.	0			c.A124T						.						123	106	112					21																	42551432		2195	4272	6467	SO:0001627	intron_variant	191585	exon1			GGTGTCTGGGGTG	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10930T>A	21.37:g.42551432T>A		Somatic	119	2		WXS	Illumina GAIIx	Phase_I	128	9	NM_182832	0	0	0	0	0	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Nonsense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																			.		0.612	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			A	42551432	T	A	42551432	1	1	56	0	1	0	0	0	0	0	0	0	12053	1588	55	5		5	PLAC4	21	42551432	Intron	SNP	T	TCGA-OR-A5LP-01A-11D-A29I-10	12209541	42551432	5578463	84	11822											
KRTAP10-6	386674	ucsc.edu	37	chr21	46011987	46011987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatccccacagcagacggAcacacagcacacaggcttgc	9	15	0	2	rs201334923	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:46011987A>G	ENST00000400368.1	-	1	399	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	127	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGCAGACGGACACACAGCAC	0.642													.|||	980	0.195687	0.3873	0.1282	5008	,	,		18410	0.2401		0.0855	False		,,,				2504	0.0521				p.S127P		.											.	KRTAP10-6-90	0			c.T379C						.	G	,PRO/SER	346,3600		9,328,1636	65	101	89		,379	-1.7	0	21	dbSNP_132	89	122,8214		6,110,4052	no	intron,missense	TSPEAR,KRTAP10-6	NM_144991.2,NM_198688.2	,74	15,438,5688	GG,GA,AA		1.4635,8.7684,3.8105	,benign	,127/366	46011987	468,11814	1973	4168	6141	SO:0001583	missense	386674	exon1			AGACGGACACACA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.379T>C	21.37:g.46011987A>G	ENSP00000383219:p.Ser127Pro	Somatic	163	27		WXS	Illumina GAIIx	Phase_I	120	62	NM_198688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.506709	0.00992	0.087684	0.014635	ENSG00000188155	ENST00000400368	T	0.01397	4.94	2.44	-1.71	0.08133	.	.	.	.	.	T	0.00039	0.0001	N	0.00793	-1.18	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39522	-0.9610	8	0.02654	T	1	.	2.6267	0.04931	0.3892:0.0:0.2528:0.358	.	127	P60371	KR106_HUMAN	P	127	ENSP00000383219:S127P	ENSP00000383219:S127P	S	-	1	0	KRTAP10-6	44836415	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.886000	0.04157	-0.713000	0.04981	-1.032000	0.02404	TCC	.		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		G	46011987	A	G	46011987	3	3	56	1	0	0	0	0	1	0	0	0	8540	275	10	4	722	4	KRTAP10-6	21	46011987	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10	3460555	46011987	2117908	85	11823											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20779768	20779768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttccggggggtctcaggcGcgggcaagtcggtcgccgcc	17	14	2	0	rs874101	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr22:20779768G>C	ENST00000266214.5	-	11	2614	c.2510C>G	c.(2509-2511)gCg>gGg	p.A837G	SCARF2_ENST00000405555.3_Missense_Mutation_p.A832G	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	837	Pro-rich.		A -> G (in dbSNP:rs874101).		cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGTCTCAGGCGCGGGCAAGTC	0.756													G|||	2677	0.534545	0.6188	0.5043	5008	,	,		8768	0.3304		0.6471	False		,,,				2504	0.5368				p.A837G		.											.	SCARF2-341	0			c.C2510G						.	G	GLY/ALA,GLY/ALA	1896,962		640,616,173	4	6	5		2510,2495	-3.1	0	22	dbSNP_86	5	4269,2301		1472,1325,488	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	60,60	2112,1941,661	CC,CG,GG		35.0228,33.6599,34.6097	benign,benign	837/871,832/866	20779768	6165,3263	1429	3285	4714	SO:0001583	missense	91179	exon11			TCAGGCGCGGGCA	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2510C>G	22.37:g.20779768G>C	ENSP00000266214:p.Ala837Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	1159	0.5306776556776557	311	0.6321138211382114	198	0.5469613259668509	174	0.3041958041958042	476	0.6279683377308707	G	5.500	0.277180	0.10403	0.663401	0.649772	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.20069	2.16;2.1	3.63	-3.09	0.05331	.	3.824140	0.02067	N	0.051201	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42849	-0.9427	9	0.24483	T	0.36	.	1.7179	0.02905	0.1488:0.3654:0.3149:0.1709	rs874101	832;833	E5RFB8;Q96GP6	.;SREC2_HUMAN	G	832;831;837	ENSP00000385589:A832G;ENSP00000266214:A837G	ENSP00000266214:A837G	A	-	2	0	SCARF2	19109768	0.000000	0.05858	0.004000	0.12327	0.115000	0.19883	0.260000	0.18424	-0.480000	0.06803	0.579000	0.79373	GCG	G|0.531;C|0.469		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20779768	G	C	20779768	3	2	56	1	0	0	0	0	1	0	0	0	13929	1087	38	2	106	2	SCARF2	22	20779768	Missense_Mutation	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10		20779768	30524798	86	11824											
RAB36	9609	bcgsc.ca	37	chr22	23503121	23503121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggcattcgagcagtcGgtgctgcaggacctggagag	16	11	0	1	rs5759611	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr22:23503121G>A	ENST00000263116.2	+	10	913	c.873G>A	c.(871-873)tcG>tcA	p.S291S	RAB36_ENST00000341989.4_Silent_p.S269S	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	291					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCGAGCAGTCGGTGCTGCAGG	0.607													G|||	1138	0.227236	0.0976	0.3501	5008	,	,		20790	0.3413		0.2396	False		,,,				2504	0.1851				p.S291S		.											.	RAB36-228	0			c.G873A						.	G		535,3871	242.5+/-252.5	36,463,1704	80	69	73		873	-11.3	0.3	22	dbSNP_114	73	2217,6383	377.2+/-338.5	288,1641,2371	no	coding-synonymous	RAB36	NM_004914.2		324,2104,4075	AA,AG,GG		25.7791,12.1425,21.1595		291/334	23503121	2752,10254	2203	4300	6503	SO:0001819	synonymous_variant	9609	exon10			GCAGTCGGTGCTG	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.873G>A	22.37:g.23503121G>A		Somatic	250	2		WXS	Illumina GAIIx	Phase_I	212	8	NM_004914	0	0	2	2	0	Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	CCDS13805.1																																																																																			G|0.776;A|0.224		0.607	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		A	23503121	G	A	23503121	2	1	56	1	0	0	0	0	0	0	0	1	12971	1103	39	1		1	RAB36	22	23503121	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	2723353	23503121	27801445	87	11825											
RBBP7	5931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	16871808	16871808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttccaccttacatcAtaagtttctgatcatcagca	4	10	4	2			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chrX:16871808A>G	ENST00000380087.2	-	6	1115	c.755T>C	c.(754-756)aTg>aCg	p.M252T	RBBP7_ENST00000404022.1_Missense_Mutation_p.M243T|RBBP7_ENST00000380084.4_Missense_Mutation_p.M296T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	252					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACCTTACATCATAAGTTTCTG	0.423																																					p.M296T		.											.	RBBP7-227	0			c.T887C						.						101	79	87					X																	16871808		2203	4300	6503	SO:0001583	missense	5931	exon6			TACATCATAAGTT	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.755T>C	X.37:g.16871808A>G	ENSP00000369427:p.Met252Thr	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	117	39	NM_001198719	0	0	0	5	5	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438873	0.63067	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.44	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.067648	0.85682	D	0.000000	T	0.72534	0.3472	L	0.52823	1.66	0.58432	D	0.999997	B;B;B;B	0.27166	0.016;0.17;0.005;0.021	B;P;B;P	0.56823	0.341;0.807;0.274;0.492	T	0.72953	-0.4135	10	0.87932	D	0	.	10.8006	0.46487	0.8431:0.1569:0.0:0.0	.	238;243;252;296	B0R0W4;E9PC52;Q16576;Q5JP00	.;.;RBBP7_HUMAN;.	T	252;296;243;56;172	ENSP00000369427:M252T;ENSP00000369424:M296T;ENSP00000386068:M243T;ENSP00000402796:M56T;ENSP00000392714:M172T	ENSP00000369424:M296T	M	-	2	0	RBBP7	16781729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.443000	0.80521	0.773000	0.33404	0.486000	0.48141	ATG	.		0.423	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		G	16871808	A	G	16871808	3	3	56	1	0	0	0	0	1	0	0	0	13149	217	8	4	550	4	RBBP7	23	16871808	Missense_Mutation	SNP	A	TCGA-OR-A5LP-01A-11D-A29I-10		16871808	138398752	88	11826											
KIAA1210	57481	broad.mit.edu	37	chrX	118222406	118222406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagaagtgcccactgaactGgtggggacttgttgctgaac	13	8	0	3			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chrX:118222406G>T	ENST00000402510.2	-	11	2786	c.2787C>A	c.(2785-2787)acC>acA	p.T929T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	929										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCACTGAACTGGTGGGGACTT	0.488																																					p.T929T		.											.	KIAA1210-67	0			c.C2787A						.						56	50	52					X																	118222406		1901	4117	6018	SO:0001819	synonymous_variant	57481	exon11			TGAACTGGTGGGG	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2787C>A	X.37:g.118222406G>T		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	130	5	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	3.345	-0.133826	0.06711	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.46	-7.71	0.01254	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	4	.	.	.	.	12.0484	0.53493	0.0:0.1653:0.6923:0.1424	.	.	.	.	K	336	.	.	Q	-	1	0	KIAA1210	118106434	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.175000	0.03102	-1.755000	0.01320	-0.315000	0.08773	CAG	.		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118222406	G	T	118222406	2	4	56	1	0	0	0	0	0	0	0	1	8241	1335	47	3		3	KIAA1210	23	118222406	Silent	SNP	G	TCGA-OR-A5LP-01A-11D-A29I-10	101350598	118222406	37048154	89	11827											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	57	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		29138975	220111646	1	11828											
FAM176B	55194	hgsc.bcm.edu	37	chr1	36788122	36788122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggcagcgtgtcgtcgGggcccagccgagtcaccgtg	17	15	1	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:36788122G>A	ENST00000270824.1	-	3	563	c.272C>T	c.(271-273)cCc>cTc	p.P91L	RP11-268J15.5_ENST00000373137.2_5'Flank|SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	91						integral component of membrane (GO:0016021)											CGTGTCGTCGGGGCCCAGCCG	0.761																																					p.P91L		.											.	.	0			c.C272T						.						11	12	11					1																	36788122		2055	4096	6151	SO:0001583	missense	55194	exon3			TCGTCGGGGCCCA	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.272C>T	1.37:g.36788122G>A	ENSP00000270824:p.Pro91Leu	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_018166	0	0	1	10	9	D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	37	CCDS406.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481029	0.63849	.	.	ENSG00000142694	ENST00000270824	T	0.39592	1.07	4.54	4.54	0.55810	.	0.186285	0.47852	D	0.000206	T	0.30135	0.0755	L	0.27053	0.805	0.50813	D	0.999898	B	0.28760	0.221	B	0.34138	0.176	T	0.10405	-1.0631	10	0.28530	T	0.3	-14.1507	8.7109	0.34382	0.1068:0.0:0.8932:0.0	.	91	Q9NVM1	F176B_HUMAN	L	91	ENSP00000270824:P91L	ENSP00000270824:P91L	P	-	2	0	FAM176B	36560709	0.003000	0.15002	1.000000	0.80357	0.921000	0.55340	1.113000	0.31184	2.053000	0.61076	0.462000	0.41574	CCC	.		0.761	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		A	36788122	G	A	36788122	3	1	57	1	0	0	0	0	1	0	0	0	5519	1232	43	3	229	3	FAM176B	1	36788122	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	7649147	36788122	212462499	2	11829											
HRNR	388697	bcgsc.ca	37	chr1	152192555	152192555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagacccatgctgaccaTagctggaagatgaacctgca	10	12	0	4	rs41266134	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:152192555T>C	ENST00000368801.2	-	3	1625	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	517			Y -> C (in dbSNP:rs41266134).		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)			ATGCTGACCATAGCTGGAAGA	0.582													T|||	1464	0.292332	0.0242	0.3905	5008	,	,		23145	0.5962		0.1412	False		,,,				2504	0.4274				p.Y517C		.											.	HRNR-93	0			c.A1550G						.	T	CYS/TYR	206,4200	126.6+/-163.6	3,200,2000	260	249	253		1550	-6	0	1	dbSNP_127	253	1241,7359	249.2+/-276.5	96,1049,3155	yes	missense	HRNR	NM_001009931.1	194	99,1249,5155	CC,CT,TT		14.4302,4.6754,11.1256	benign	517/2851	152192555	1447,11559	2203	4300	6503	SO:0001583	missense	388697	exon3			TGACCATAGCTGG	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.1550A>G	1.37:g.152192555T>C	ENSP00000357791:p.Tyr517Cys	Somatic	359	3		WXS	Illumina GAIIx	Phase_I	281	12	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	582	0.2664835164835165	13	0.026422764227642278	119	0.3287292817679558	338	0.5909090909090909	112	0.14775725593667546	T	2.829	-0.243134	0.05906	0.046754	0.144302	ENSG00000197915	ENST00000368801	T	0.01725	4.67	3.01	-6.02	0.02192	.	.	.	.	.	T	0.00300	0.0009	N	0.14661	0.345	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.46952	-0.9154	8	0.38643	T	0.18	.	0.3516	0.00350	0.3025:0.2331:0.2662:0.1982	rs41266134	517	Q86YZ3	HORN_HUMAN	C	517	ENSP00000357791:Y517C	ENSP00000357791:Y517C	Y	-	2	0	HRNR	150459179	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.023000	0.00085	-1.875000	0.01132	-0.515000	0.04445	TAT	T|0.836;C|0.164		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		C	152192555	T	C	152192555	3	2	57	1	0	0	0	0	1	0	0	0	7386	1406	49	4	7006	4	HRNR	1	152192555	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	115404433	152192555	97058066	3	11830											
ADAMTS4	9507	bcgsc.ca	37	chr1	161160928	161160928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccgggatagtgaggTtatttcctgcccgcccaggg	16	11	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:161160928T>C	ENST00000367996.5	-	9	2942	c.2514A>G	c.(2512-2514)taA>taG	p.*838*		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GATAGTGAGGTTATTTCCTGC	0.627																																					p.X838X		.											.	ADAMTS4-230	0			c.A2514G						.						18	23	22					1																	161160928		2172	4255	6427	SO:0001819	synonymous_variant	9507	exon9			GTGAGGTTATTTC	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2514A>G	1.37:g.161160928T>C		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_005099	0	0	0	0	0	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	CCDS1223.1																																																																																			.		0.627	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		C	161160928	T	C	161160928	2	2	57	1	0	0	0	0	0	0	0	1	268	1732	60	4		4	ADAMTS4	1	161160928	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	8968373	161160928	88089693	4	11831											
LAMC1	3915	bcgsc.ca	37	chr1	183072590	183072590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtactacagtggttcctgTgagaacacctactccaaggc	9	12	0	1	rs2296288	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:183072590T>C	ENST00000258341.4	+	2	803	c.546T>C	c.(544-546)tgT>tgC	p.C182C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	182	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						GTGGTTCCTGTGAGAACACCT	0.552													C|||	2664	0.531949	0.3321	0.6268	5008	,	,		19406	0.628		0.5646	False		,,,				2504	0.6022				p.C182C		.											.	LAMC1-252	0			c.T546C						.	C		1657,2749	658.8+/-400.5	337,983,883	88	81	83		546	-3.3	1	1	dbSNP_100	83	4913,3687	528.5+/-381.4	1352,2209,739	no	coding-synonymous	LAMC1	NM_002293.3		1689,3192,1622	CC,CT,TT		42.8721,37.6078,49.4849		182/1610	183072590	6570,6436	2203	4300	6503	SO:0001819	synonymous_variant	3915	exon2			TTCCTGTGAGAAC	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.546T>C	1.37:g.183072590T>C		Somatic	355	3		WXS	Illumina GAIIx	Phase_I	267	9	NM_002293	0	0	7	7	0	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																			T|0.486;C|0.514		0.552	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		C	183072590	T	C	183072590	2	2	57	1	0	0	0	0	0	0	0	1	8642	1702	59	4		4	LAMC1	1	183072590	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	21911662	183072590	66178031	5	11832											
OR2L3	391192	ucsc.edu	37	chr1	248224578	248224578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtctatgagggcacagtgTttttgagcaccaccatcttt	11	9	2	2	rs60743763	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr1:248224578T>C	ENST00000359959.3	+	1	595	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCACAGTGTTTTTGAGCAC	0.488													t|||	389	0.0776757	0.1324	0.0288	5008	,	,		24690	0.119		0.0626	False		,,,				2504	0.0112				p.F199L		.											.	OR2L3-68	0			c.T595C						.						179	198	191					1																	248224578		2189	4300	6489	SO:0001583	missense	391192	exon1			ACAGTGTTTTTGA	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.595T>C	1.37:g.248224578T>C	ENSP00000353044:p.Phe199Leu	Somatic	235	9		WXS	Illumina GAIIx	Phase_I	107	23	NM_001004687	0	0	0	0	0	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	145	0.06639194139194139	38	0.07723577235772358	9	0.024861878453038673	67	0.11713286713286714	31	0.040897097625329816	T	7.648	0.682293	0.14907	.	.	ENSG00000198128	ENST00000359959	T	0.00042	8.84	2.05	0.915	0.19366	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	U	0.004607	T	0.00012	0.0000	N	0.13043	0.29	0.09310	N	1	P	0.49447	0.924	P	0.56088	0.791	T	0.44667	-0.9313	10	0.51188	T	0.08	.	0.1554	0.00097	0.2252:0.2557:0.23:0.2891	rs60743763	199	Q8NG85	OR2L3_HUMAN	L	199	ENSP00000353044:F199L	ENSP00000353044:F199L	F	+	1	0	OR2L3	246291201	0.000000	0.05858	0.068000	0.19968	0.037000	0.13140	-2.920000	0.00694	0.928000	0.37168	0.379000	0.24179	TTT	T|0.975;C|0.025		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		C	248224578	T	C	248224578	3	2	57	1	0	0	0	0	1	0	0	0	11047	1725	60	4	597	4	OR2L3	1	248224578	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	65151988	248224578	1026043	6	11833											
RBM6	10180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	50005492	50005492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagggccagagaacagtccCgttctgattttaggaataga	11	7	1	3			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr3:50005492C>T	ENST00000266022.4	+	3	893	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.R80C|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	212					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAACAGTCCCGTTCTGATTT	0.428																																					p.R212C		.											.	RBM6-280	0			c.C634T						.						57	58	58					3																	50005492		2203	4300	6503	SO:0001583	missense	10180	exon3			CAGTCCCGTTCTG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.634C>T	3.37:g.50005492C>T	ENSP00000266022:p.Arg212Cys	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	77	17	NM_005777	0	0	5	9	4	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146473	0.37923	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32988	1.43;1.46	6.04	6.04	0.98038	.	0.293452	0.34700	N	0.003756	T	0.17874	0.0429	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.03051	-1.1078	9	.	.	.	-5.9312	11.4594	0.50202	0.0:0.8932:0.0:0.1068	.	212	P78332	RBM6_HUMAN	C	212;80	ENSP00000266022:R212C;ENSP00000396466:R80C	.	R	+	1	0	RBM6	49980496	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.518000	0.45537	2.873000	0.98535	0.561000	0.74099	CGT	.		0.428	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005492	C	T	50005492	3	4	57	1	0	0	0	0	1	0	0	0	13189	652	23	1	640	1	RBM6	3	50005492	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10		50005492	148016938	7	11834											
HLTF	6596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	148763873	148763873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctccataccttccaAtagtggctctgccttcattt	4	13	4	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr3:148763873A>G	ENST00000310053.5	-	18	2259	c.2066T>C	c.(2065-2067)aTt>aCt	p.I689T	HLTF_ENST00000392912.2_Missense_Mutation_p.I689T|HLTF_ENST00000494055.1_Missense_Mutation_p.I689T|HLTF_ENST00000465259.1_Missense_Mutation_p.I688T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	689					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATACCTTCCAATAGTGGCTCT	0.323																																					p.I689T		.											.	HLTF-659	0			c.T2066C						.						97	95	95					3																	148763873		2203	4299	6502	SO:0001583	missense	6596	exon18			CTTCCAATAGTGG	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2066T>C	3.37:g.148763873A>G	ENSP00000308944:p.Ile689Thr	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	92	65	NM_139048	0	0	0	0	0	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928378	0.73327	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.54	5.54	0.83059	SNF2-related (1);	.	.	.	.	D	0.85873	0.5798	M	0.64997	1.995	0.49687	D	0.999812	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75020	0.976;0.985;0.976	D	0.86976	0.2101	9	0.62326	D	0.03	-23.1717	14.661	0.68870	1.0:0.0:0.0:0.0	.	689;689;689	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	688;689;689;689;153	ENSP00000420745:I688T;ENSP00000308944:I689T;ENSP00000376644:I689T;ENSP00000420429:I689T;ENSP00000420106:I153T	ENSP00000308944:I689T	I	-	2	0	HLTF	150246563	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.709000	0.74665	2.090000	0.63153	0.528000	0.53228	ATT	.		0.323	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			G	148763873	A	G	148763873	3	3	57	1	0	0	0	0	1	0	0	0	7242	101	4	4	995	4	HLTF	3	148763873	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10	98758381	148763873	49258557	8	11835											
EIF2B5	8893	broad.mit.edu;bcgsc.ca	37	chr3	183853220	183853220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtggtggttagtcgggCtaacaagcgcagcggcgcgg	19	8	0	0	rs113994041		TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr3:183853220C>T	ENST00000273783.3	+	1	169	c.47C>T	c.(46-48)gCt>gTt	p.A16V	EIF2B5_ENST00000432569.1_Missense_Mutation_p.A16V|RP11-778D9.13_ENST00000609288.1_lincRNA|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000444495.1_Missense_Mutation_p.A16V	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	16					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTTAGTCGGGCTAACAAGCGC	0.697											OREG0015363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A16V		.											.	EIF2B5-95	0			c.C47T	GRCh37	CM041311	EIF2B5	M	rs113994041	.						6	8	7					3																	183853220		2156	4225	6381	SO:0001583	missense	8893	exon1			GTCGGGCTAACAA	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.47C>T	3.37:g.183853220C>T	ENSP00000273783:p.Ala16Val	Somatic	50	0	1987	WXS	Illumina GAIIx	Phase_I	95	5	NM_003907	0	0	7	9	2	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211828	0.39102	.	.	ENSG00000145191	ENST00000273783;ENST00000432569;ENST00000444495	D;D;D	0.98135	-4.73;-4.17;-4.74	4.93	0.441	0.16577	.	0.600141	0.16984	N	0.191582	D	0.93507	0.7928	L	0.36672	1.1	0.25177	N	0.990238	B	0.02656	0.0	B	0.04013	0.001	D	0.87388	0.2361	10	0.52906	T	0.07	-3.2246	5.2587	0.15561	0.0:0.4724:0.2236:0.304	.	16	Q13144	EI2BE_HUMAN	V	16	ENSP00000273783:A16V;ENSP00000414775:A16V;ENSP00000409142:A16V	ENSP00000273783:A16V	A	+	2	0	EIF2B5	185335914	0.063000	0.20901	0.123000	0.21794	0.252000	0.25951	0.030000	0.13688	0.267000	0.21916	0.650000	0.86243	GCT	.		0.697	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183853220	C	T	183853220	3	4	57	1	0	0	0	0	1	0	0	0	5018	797	28	3	49	3	EIF2B5	3	183853220	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	35089347	183853220	14169210	9	11836											
CRIPAK	285464	ucsc.edu;bcgsc.ca	37	chr4	1388324	1388324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagccctcgctttgtgccAatgtggagtgcccgcctgct	12	13	0	1	rs74377230		TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:1388324A>C	ENST00000324803.4	+	1	2985	c.25A>C	c.(25-27)Aat>Cat	p.N9H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	9					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTTTGTGCCAATGTGGAGTG	0.537																																					p.N9H		.											.	CRIPAK-90	0			c.A25C						.						124	130	128					4																	1388324		2203	4300	6503	SO:0001583	missense	285464	exon1			TGTGCCAATGTGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.25A>C	4.37:g.1388324A>C	ENSP00000323978:p.Asn9His	Somatic	134	3		WXS	Illumina GAIIx	Phase_I	136	23	NM_175918	0	0	1	1	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	0.580	-0.837604	0.02692	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.23348	1.91	.	.	.	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	7	0.49607	T	0.09	.	.	.	.	.	9	Q8N1N5	CRPAK_HUMAN	H	9;2	ENSP00000323978:N9H	ENSP00000323978:N9H	N	+	1	0	CRIPAK	1378324	0.752000	0.28338	0.019000	0.16419	0.027000	0.11550	-1.046000	0.03525	-1.644000	0.01517	-1.639000	0.00775	AAT	A|0.939;C|0.061		0.537	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388324	A	C	1388324	3	2	57	1	0	0	0	0	1	0	0	0	3884	130	5	5	27	5	CRIPAK	4	1388324	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		1388324	189765952	10	11837											
HGFAC	3083	bcgsc.ca	37	chr4	3449886	3449886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccagctccctgcgggaGgccctggtccccctggtcgc	12	18	0	0	rs28468427	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:3449886G>A	ENST00000382774.3	+	13	1783	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	HGFAC_ENST00000511533.1_Silent_p.E563E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	556	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTGCGGGAGGCCCTGGTCC	0.672													G|||	1393	0.278155	0.2943	0.3285	5008	,	,		15192	0.3581		0.2336	False		,,,				2504	0.184				p.E556E		.											.	HGFAC-514	0			c.G1668A						.	G		1189,3185		196,797,1194	23	21	22		1668	2.1	1	4	dbSNP_125	22	1931,6629		246,1439,2595	no	coding-synonymous	HGFAC	NM_001528.2		442,2236,3789	AA,AG,GG		22.5584,27.1834,24.1225		556/656	3449886	3120,9814	2187	4280	6467	SO:0001819	synonymous_variant	3083	exon13			GCGGGAGGCCCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1668G>A	4.37:g.3449886G>A		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	167	7	NM_001528	0	0	0	0	0	Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	CCDS3369.1																																																																																			G|0.745;A|0.255		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3449886	G	A	3449886	2	1	57	1	0	0	0	0	0	0	0	1	7113	991	35	3		3	HGFAC	4	3449886	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	2061562	3449886	187704390	11	11838											
DSPP	1834	bcgsc.ca	37	chr4	88537294	88537294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgacagcagcgacagcagTgacagcagcgatagcagcga	14	10	0	2	rs111216206		TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:88537294T>C	ENST00000282478.7	+	4	3513	c.3480T>C	c.(3478-3480)agT>agC	p.S1160S	DSPP_ENST00000399271.1_Silent_p.S1160S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1160	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)		gcgacagcagtgacagcagcg	0.567																																					p.S1160S		.											.	DSPP-90	0			c.T3480C						.						43	58	53					4																	88537294		1580	2849	4429	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGACAGC	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.3480T>C	4.37:g.88537294T>C		Somatic	994	8		WXS	Illumina GAIIx	Phase_I	519	120	NM_014208	0	0	0	0	0	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		C	88537294	T	C	88537294	2	2	57	1	0	0	0	0	0	0	0	1	4796	1693	59	4		4	DSPP	4	88537294	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	85087408	88537294	102616982	12	11839											
C4orf33	132321	bcgsc.ca	37	chr4	130032886	130032886	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattttaacacactgctTggagaagagtggaaacaacc	8	8	1	2			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:130032886T>A	ENST00000281146.5	+	6	1261	c.540T>A	c.(538-540)ctT>ctA	p.L180L	C4orf33_ENST00000425929.1_Silent_p.L180L	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	180										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACACACTGCTTGGAGAAGAGT	0.348																																					p.L180L		.											.	C4orf33-69	0			c.T540A						.						108	104	106					4																	130032886		2203	4300	6503	SO:0001819	synonymous_variant	132321	exon6			ACTGCTTGGAGAA	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.540T>A	4.37:g.130032886T>A		Somatic	161	0		WXS	Illumina GAIIx	Phase_I	154	6	NM_001099783	0	0	15	15	0	D3DNY2|Q6PJF3|Q8NBC5	Silent	SNP	ENST00000281146.5	37	CCDS3741.1																																																																																			.		0.348	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		A	130032886	T	A	130032886	2	1	57	1	0	0	0	0	0	0	0	1	2270	1799	63	5		5	C4orf33	4	130032886	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	41495592	130032886	61121390	13	11840											
EDNRA	1909	bcgsc.ca	37	chr4	148461037	148461037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctggttccctcttcaTttaagccgtatattgaagaa	7	9	2	2	rs5333	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:148461037T>C	ENST00000324300.5	+	6	1484	c.969T>C	c.(967-969)caT>caC	p.H323H	EDNRA_ENST00000506066.1_Silent_p.H214H|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Silent_p.H98H|EDNRA_ENST00000358556.4_Silent_p.H214H|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	323					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TCCCTCTTCATTTAAGCCGTA	0.378													T|||	1925	0.384385	0.6498	0.3386	5008	,	,		19262	0.2381		0.2237	False		,,,				2504	0.3742				p.H323H		.											.	EDNRA-586	0			c.T969C						.	T	,	2444,1962	621.4+/-393.7	684,1076,443	193	193	193		642,969	-1.1	1	4	dbSNP_52	193	2140,6460	367.5+/-334.7	275,1590,2435	no	coding-synonymous,coding-synonymous	EDNRA	NM_001166055.1,NM_001957.3	,	959,2666,2878	CC,CT,TT		24.8837,44.5302,35.2453	,	214/319,323/428	148461037	4584,8422	2203	4300	6503	SO:0001819	synonymous_variant	1909	exon6			TCTTCATTTAAGC	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.969T>C	4.37:g.148461037T>C		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_001957	0	0	1	1	0	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	CCDS3769.1																																																																																			T|0.642;C|0.358		0.378	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			C	148461037	T	C	148461037	2	2	57	1	0	0	0	0	0	0	0	1	4933	1490	52	4		4	EDNRA	4	148461037	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	18428151	148461037	42693239	14	11841			1	56		2	2	37	N	T_G	7.093518e-05
EDNRA	1909	ucsc.edu;bcgsc.ca	37	chr4	148461073	148461073	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaaactgtgtataacgaGatggacaagaaccgatgtga	11	5	0	4	rs5334	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr4:148461073G>A	ENST00000324300.5	+	6	1520	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	EDNRA_ENST00000506066.1_Silent_p.E226E|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Silent_p.E110E|EDNRA_ENST00000358556.4_Silent_p.E226E|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	335					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGTATAACGAGATGGACAAGA	0.348													G|||	1924	0.384185	0.6498	0.3372	5008	,	,		18834	0.2381		0.2237	False		,,,				2504	0.3742				p.E335E		.											.	EDNRA-586	0			c.G1005A						.	G	,	2444,1962	621.4+/-393.7	684,1076,443	182	182	182		678,1005	3.6	1	4	dbSNP_52	182	2140,6460	367.3+/-334.7	275,1590,2435	no	coding-synonymous,coding-synonymous	EDNRA	NM_001166055.1,NM_001957.3	,	959,2666,2878	AA,AG,GG		24.8837,44.5302,35.2453	,	226/319,335/428	148461073	4584,8422	2203	4300	6503	SO:0001819	synonymous_variant	1909	exon6			TAACGAGATGGAC	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1005G>A	4.37:g.148461073G>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	61	6	NM_001957	0	0	1	1	0	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	CCDS3769.1																																																																																			G|0.644;A|0.356		0.348	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			A	148461073	G	A	148461073	2	1	57	1	0	0	0	0	0	0	0	1	4933	933	33	3		3	EDNRA	4	148461073	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	36	148461073	42693203	15	11842			1	56		2	2	37	N	T_G	7.093518e-05
MRPS30	10884	broad.mit.edu	37	chr5	44809179	44809179	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaagacgtcgcggcgAcccccgtcgcgcggtacccg	13	19	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr5:44809179A>C	ENST00000507110.1	+	1	153	c.115A>C	c.(115-117)Acc>Ccc	p.T39P	RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	39					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGTCGCGGCGACCCCCGTCGC	0.677																																					p.T39P		.											.	MRPS30-227	0			c.A115C						.						9	11	11					5																	44809179		2159	4249	6408	SO:0001583	missense	10884	exon1			GCGGCGACCCCCG	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.115A>C	5.37:g.44809179A>C	ENSP00000424328:p.Thr39Pro	Somatic	23	2		WXS	Illumina GAIIx	Phase_I	175	42	NM_016640	0	0	8	9	1	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267918	0.59540	.	.	ENSG00000112996	ENST00000507110	T	0.18960	2.18	5.03	1.94	0.25998	.	0.293028	0.30528	N	0.009432	T	0.16685	0.0401	L	0.55481	1.735	0.19775	N	0.999952	B	0.09022	0.002	B	0.12156	0.007	T	0.16808	-1.0390	10	0.32370	T	0.25	-5.4412	5.1907	0.15209	0.2516:0.0:0.5853:0.163	.	39	Q9NP92	RT30_HUMAN	P	39	ENSP00000424328:T39P	ENSP00000424328:T39P	T	+	1	0	MRPS30	44844936	0.001000	0.12720	0.009000	0.14445	0.043000	0.13939	0.701000	0.25616	0.578000	0.29487	-0.250000	0.11733	ACC	.		0.677	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		C	44809179	A	C	44809179	3	2	57	1	0	0	0	0	1	0	0	0	9878	275	10	5	117	5	MRPS30	5	44809179	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		44809179	136106081	16	11843											
PNPLA1	285848	ucsc.edu;bcgsc.ca	37	chr6	36260858	36260858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctatactgcagctgcttCgtcccggtgtactgtggcct	11	14	0	0	rs2239795	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr6:36260858C>T	ENST00000394571.2	+	3	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F	PNPLA1_ENST00000312917.5_Silent_p.F58F|PNPLA1_ENST00000388715.3_Silent_p.F58F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	153	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCAGCTGCTTCGTCCCGGTGT	0.662													C|||	2095	0.418331	0.5703	0.3213	5008	,	,		17655	0.3472		0.4155	False		,,,				2504	0.3579				p.F153F		.											.	PNPLA1-137	0			c.C459T						.	C	,,	2278,2128	598.9+/-389.2	596,1086,521	116	96	103		174,459,174	-5.1	0.9	6	dbSNP_98	103	3346,5254	497.8+/-374.6	654,2038,1608	no	coding-synonymous,coding-synonymous,coding-synonymous	PNPLA1	NM_001145716.1,NM_001145717.1,NM_173676.2	,,	1250,3124,2129	TT,TC,CC		38.907,48.2978,43.2416	,,	58/447,153/533,58/438	36260858	5624,7382	2203	4300	6503	SO:0001819	synonymous_variant	285848	exon3			CTGCTTCGTCCCG		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.459C>T	6.37:g.36260858C>T		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	64	6	NM_001145717	0	0	0	0	0	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	CCDS54997.1																																																																																			C|0.568;T|0.432		0.662	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		T	36260858	C	T	36260858	2	4	57	1	0	0	0	0	0	0	0	1	12203	883	31	1		1	PNPLA1	6	36260858	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10		36260858	134854209	17	11844											
SH3BGRL2	83699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	80406276	80406276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaaccacggttggcAtcaaaggtaggtaaatcttt	11	8	2	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr6:80406276A>G	ENST00000369838.4	+	3	485	c.306A>G	c.(304-306)gcA>gcG	p.A102A		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	102						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		CACGGTTGGCATCAAAGGTAG	0.333																																					p.A102A		.											.	SH3BGRL2-226	0			c.A306G						.						125	114	118					6																	80406276		2203	4300	6503	SO:0001819	synonymous_variant	83699	exon3			GTTGGCATCAAAG	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"SH3 domain binding glutamic acid-rich protein like 2"			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.306A>G	6.37:g.80406276A>G		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	55	14	NM_031469	0	0	0	0	0	A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Silent	SNP	ENST00000369838.4	37	CCDS4991.1																																																																																			.		0.333	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			G	80406276	A	G	80406276	2	3	57	1	0	0	0	0	0	0	0	1	14287	204	8	4		4	SH3BGRL2	6	80406276	Silent	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10	44145418	80406276	90708791	18	11845											
EIF3B	8662	hgsc.bcm.edu	37	chr7	2394991	2394991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccccgggcgctggagaaCggcgacgcggacgagccctc	16	15	0	1	rs11551167	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr7:2394991C>T	ENST00000360876.4	+	1	491	c.435C>T	c.(433-435)aaC>aaT	p.N145N	EIF3B_ENST00000397011.2_Silent_p.N145N	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)		CGCTGGAGAACGGCGACGCGG	0.756													C|||	1173	0.234225	0.0847	0.1513	5008	,	,		9860	0.2808		0.2704	False		,,,				2504	0.41				p.N145N		.											.	EIF3B-68	0			c.C435T						.	C	,	311,3057		24,263,1397	4	4	4		435,435	0.5	1	7	dbSNP_120	4	1454,5336		174,1106,2115	no	coding-synonymous,coding-synonymous	EIF3B	NM_001037283.1,NM_003751.3	,	198,1369,3512	TT,TC,CC		21.4138,9.234,17.3755	,	145/815,145/815	2394991	1765,8393	1684	3395	5079	SO:0001819	synonymous_variant	8662	exon1			GGAGAACGGCGAC	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.435C>T	7.37:g.2394991C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001037283	0	0	0	12	12		Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																			C|0.787;T|0.213		0.756	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			T	2394991	C	T	2394991	2	4	57	1	0	0	0	0	0	0	0	1	5027	535	19	1		1	EIF3B	7	2394991	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10		2394991	156743672	19	11846											
CLDN23	137075	hgsc.bcm.edu	37	chr8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaccatccaaGtggagtggcccgagcccgac	13	15	1	0	rs12548737	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5	8	7		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		A	8560536	G	A	8560536	3	1	57	1	0	0	0	0	1	0	0	0	3491	1029	36	3	630	3	CLDN23	8	8560536	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		8560536	137803486	20	11847											
OPRK1	4986	hgsc.bcm.edu	37	chr8	54163562	54163562	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcgcaggtagggccCggctccccgcggaagatctg	17	14	1	1	rs1051660	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr8:54163562C>A	ENST00000265572.3	-	2	333	c.36G>T	c.(34-36)ccG>ccT	p.P12P	OPRK1_ENST00000520287.1_Silent_p.P12P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	12					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGTAGGGCCCGGCTCCCCGC	0.726													c|||	573	0.114417	0.0968	0.0476	5008	,	,		11885	0.1478		0.0785	False		,,,				2504	0.1881				p.P12P		.											.	OPRK1-70	0			c.G36T	GRCh37	CM074395	OPRK1	M	rs1051660	.			392,3590		20,352,1619	6	9	8		36	-1.5	0.1	8	dbSNP_86	8	701,7415		24,653,3381	no	coding-synonymous	OPRK1	NM_000912.3		44,1005,5000	AA,AC,CC		8.6373,9.8443,9.0346		12/381	54163562	1093,11005	1991	4058	6049	SO:0001819	synonymous_variant	4986	exon2			AGGGCCCGGCTCC		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.36G>T	8.37:g.54163562C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	8	NM_000912	0	0	0	0	0	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																			C|0.895;A|0.105		0.726	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54163562	C	A	54163562	2	1	57	1	0	0	0	0	0	0	0	1	10924	639	23	2		2	OPRK1	8	54163562	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	45603026	54163562	92200460	21	11848											
PLEC	5339	hgsc.bcm.edu	37	chr8	144992388	144992388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggccggtgccgtcGtcacgacggcaccgcctgag	15	15	1	1	rs75833626	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr8:144992388G>A	ENST00000322810.4	-	32	12181	c.12012C>T	c.(12010-12012)gaC>gaT	p.D4004D	PLEC_ENST00000345136.3_Silent_p.D3867D|PLEC_ENST00000356346.3_Silent_p.D3853D|PLEC_ENST00000398774.2_Silent_p.D3835D|PLEC_ENST00000436759.2_Silent_p.D3894D|PLEC_ENST00000357649.2_Silent_p.D3871D|PLEC_ENST00000527096.1_Silent_p.D3890D|PLEC_ENST00000354958.2_Silent_p.D3845D|PLEC_ENST00000354589.3_Silent_p.D3867D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4004	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCGTCGTCACGACGGC	0.687													G|||	212	0.0423323	0.152	0.0086	5008	,	,		11105	0.004		0.001	False		,,,				2504	0				p.D4004D		.											.	PLEC-141	0			c.C12012T						.	G	,,,,,,,	484,3264		25,434,1415	9	12	11		11682,11559,11535,12012,11505,11601,11613,11601	-5.8	0	8	dbSNP_132	11	9,7997		0,9,3994	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	25,443,5409	AA,AG,GG		0.1124,12.9136,4.1943	,,,,,,,	3894/4575,3853/4534,3845/4526,4004/4685,3835/4516,3867/4548,3871/4552,3867/4548	144992388	493,11261	1874	4003	5877	SO:0001819	synonymous_variant	5339	exon32			GCCGTCGTCACGA	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.12012C>T	8.37:g.144992388G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	12	NM_201380	1	0	21	49	27	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.965;A|0.035		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144992388	G	A	144992388	2	1	57	1	0	0	0	0	0	0	0	1	12091	1136	40	1		1	PLEC	8	144992388	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	90828826	144992388	1371634	22	11849											
HSF1	3297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145535011	145535011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctccacagctcaTtcagttcctgatctcactgg	5	16	5	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr8:145535011T>A	ENST00000528838.1	+	6	729	c.569T>A	c.(568-570)aTt>aAt	p.I190N	HSF1_ENST00000400780.4_Missense_Mutation_p.I125N	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	190	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCACAGCTCATTCAGTTCCTG	0.617																																					p.I190N		.											.	HSF1-46	0			c.T569A						.						69	72	71					8																	145535011		2203	4296	6499	SO:0001583	missense	3297	exon6			AGCTCATTCAGTT	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.569T>A	8.37:g.145535011T>A	ENSP00000431512:p.Ile190Asn	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	79	27	NM_005526	0	0	1	2	1	A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329887	0.81690	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.84948	2.725	0.54753	D	0.999988	D	0.54397	0.966	P	0.59288	0.855	T	0.79546	-0.1759	9	0.87932	D	0	-21.2902	8.1715	0.31258	0.0:0.0888:0.0:0.9112	.	190	Q00613	HSF1_HUMAN	N	190;125;125	.	ENSP00000383590:I125N	I	+	2	0	HSF1	145505819	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.115000	0.50391	2.082000	0.62665	0.533000	0.62120	ATT	.		0.617	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		A	145535011	T	A	145535011	3	1	57	1	0	0	0	0	1	0	0	0	7422	1493	52	5	591	5	HSF1	8	145535011	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	542623	145535011	829011	23	11850											
TMEM2	23670	broad.mit.edu;ucsc.edu	37	chr9	74359971	74359971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagttcacttcccaaccGttcctggatcatctggatgg	9	12	4	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr9:74359971G>A	ENST00000377044.4	-	4	1536	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	TMEM2_ENST00000377066.5_Missense_Mutation_p.R333W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	333					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)		CTTCCCAACCGTTCCTGGATC	0.517																																					p.R333W		.											.	TMEM2-92	0			c.C997T						.						149	131	137					9																	74359971		2203	4300	6503	SO:0001583	missense	23670	exon4			CCAACCGTTCCTG		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.997C>T	9.37:g.74359971G>A	ENSP00000366243:p.Arg333Trp	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	60	7	NM_001135820	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951185	0.73787	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73469	-0.75;-0.7	6.03	5.11	0.69529	.	0.450530	0.24695	N	0.036355	T	0.78310	0.4263	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.56474	0.634;0.799	T	0.80555	-0.1330	10	0.66056	D	0.02	.	16.4709	0.84112	0.0:0.0:0.8678:0.1322	.	333;333	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	W	333	ENSP00000366243:R333W;ENSP00000366266:R333W	ENSP00000366243:R333W	R	-	1	2	TMEM2	73549791	1.000000	0.71417	0.831000	0.32960	0.749000	0.42624	3.286000	0.51724	1.514000	0.48869	0.655000	0.94253	CGG	.		0.517	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		A	74359971	G	A	74359971	3	1	57	1	0	0	0	0	1	0	0	0	16168	1144	40	1	3238	1	TMEM2	9	74359971	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		74359971	66853460	24	11851											
PPAPDC3	84814	bcgsc.ca	37	chr9	134165546	134165546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccccacctgctggtgaCggggccagagagcgacgcca	14	16	0	2	rs141024100	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr9:134165546C>T	ENST00000372264.3	+	1	466	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PPAPDC3_ENST00000372261.1_Silent_p.D54D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	54					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CTGCTGGTGACGGGGCCAGAG	0.677																																					p.D54D		.											.	PPAPDC3-153	0			c.C162T						.						29	28	29					9																	134165546		2202	4299	6501	SO:0001819	synonymous_variant	84814	exon1			TGGTGACGGGGCC	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.162C>T	9.37:g.134165546C>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	80	5	NM_032728	0	0	7	7	0	Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	CCDS6942.1																																																																																			C|0.999;A|0.001		0.677	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		T	134165546	C	T	134165546	2	4	57	1	0	0	0	0	0	0	0	1	12335	535	19	1		1	PPAPDC3	9	134165546	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	59805575	134165546	7047885	25	11852											
ABCA2	20	broad.mit.edu	37	chr9	139907251	139907251	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgtcgcctgtgaccAcccgcatctggggcgggtgc	15	13	2	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr9:139907251A>C	ENST00000371605.3	-	30	5138	c.4991T>G	c.(4990-4992)gTg>gGg	p.V1664G	ABCA2_ENST00000341511.6_Missense_Mutation_p.V1665G|ABCA2_ENST00000265662.5_Missense_Mutation_p.V1665G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1664					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCTGTGACCACCCGCATCTG	0.687																																					p.V1695G		.											.	ABCA2-90	0			c.T5084G						.						17	22	20					9																	139907251		2020	4135	6155	SO:0001583	missense	20	exon31			GTGACCACCCGCA	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4991T>G	9.37:g.139907251A>C	ENSP00000360666:p.Val1664Gly	Somatic	93	7		WXS	Illumina GAIIx	Phase_I	174	50	NM_212533	0	0	7	7	0	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	A	14.80	2.642131	0.47153	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87966	-2.32;-2.32;-2.32	4.15	4.15	0.48705	.	2.364680	0.02861	U	0.130366	D	0.90079	0.6901	L	0.60455	1.87	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.49502	0.534;0.613	T	0.80915	-0.1169	10	0.87932	D	0	.	13.3138	0.60394	1.0:0.0:0.0:0.0	.	1664;1695	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	G	1665;1664;1695;1665	ENSP00000265662:V1665G;ENSP00000360666:V1664G;ENSP00000344155:V1665G	ENSP00000265662:V1665G	V	-	2	0	ABCA2	139027072	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	5.356000	0.66052	1.738000	0.51689	0.402000	0.26972	GTG	.		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		C	139907251	A	C	139907251	3	2	57	1	0	0	0	0	1	0	0	0	32	159	6	5	2392	5	ABCA2	9	139907251	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10	5741705	139907251	1306180	26	11853											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	15	3	2	4	rs79064394		TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	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		.											.	CSGALNACT2-69	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	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	136	5	NM_018590	0	0	3	3	0	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	57	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		43659419	91875328	27	11854											
TYSND1	219743	bcgsc.ca	37	chr10	71906150	71906150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacggcgccggccgcggTcaggacttcgctgccagctc	15	15	1	1	rs4746970	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr10:71906150T>C	ENST00000287078.6	-	1	192	c.193A>G	c.(193-195)Acc>Gcc	p.T65A	TYSND1_ENST00000335494.5_Missense_Mutation_p.T65A|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	65			T -> A (in dbSNP:rs4746970). {ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGCCGCGGTCAGGACTTCG	0.726													T|||	1930	0.385383	0.1679	0.513	5008	,	,		13022	0.5327		0.4115	False		,,,				2504	0.41				p.T65A		.											.	TYSND1-135	0			c.A193G						.	T	ALA/THR,ALA/THR	733,3169		101,531,1319	7	8	8		193,193	2.6	0	10	dbSNP_111	8	2989,4601		673,1643,1479	yes	missense,missense	TYSND1	NM_001040273.1,NM_173555.2	58,58	774,2174,2798	CC,CT,TT		39.3808,18.7852,32.3877	benign,benign	65/399,65/567	71906150	3722,7770	1951	3795	5746	SO:0001583	missense	219743	exon1			CCGCGGTCAGGAC	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.193A>G	10.37:g.71906150T>C	ENSP00000287078:p.Thr65Ala	Somatic	9	1		WXS	Illumina GAIIx	Phase_I	36	33	NM_173555	0	0	0	2	2	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	CCDS31213.1	903	0.41346153846153844	77	0.1565040650406504	179	0.494475138121547	330	0.5769230769230769	317	0.4182058047493404	T	3.128	-0.179013	0.06380	0.187852	0.393808	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.47177	0.85;0.85	4.98	2.59	0.31030	.	0.704604	0.13805	N	0.361502	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.42068	-0.9473	9	0.44086	T	0.13	-20.2145	2.3036	0.04168	0.2184:0.3024:0.0:0.4792	rs4746970;rs17854223	65;65	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	A	65	ENSP00000287078:T65A;ENSP00000335673:T65A	ENSP00000287078:T65A	T	-	1	0	TYSND1	71576156	0.001000	0.12720	0.030000	0.17652	0.297000	0.27493	0.483000	0.22292	0.905000	0.36596	0.418000	0.28097	ACC	T|0.585;C|0.415		0.726	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		C	71906150	T	C	71906150	3	2	57	1	0	0	0	0	1	0	0	0	16866	1667	58	4	1523	4	TYSND1	10	71906150	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	28246731	71906150	63628597	28	11855											
ADAMTS14	140766	ucsc.edu	37	chr10	72498690	72498690	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaccaagtttgggtcatgTtcgcggtcatgtgggggcgg	18	7	2	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr10:72498690T>A	ENST00000373207.1	+	11	1692	c.1692T>A	c.(1690-1692)tgT>tgA	p.C564*	ADAMTS14_ENST00000373208.1_Nonsense_Mutation_p.C567*	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	564	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGGTCATGTTCGCGGTCAT	0.637																																					p.C567X		.											.	ADAMTS14-232	0			c.T1701A						.						71	64	67					10																	72498690		2203	4300	6503	SO:0001587	stop_gained	140766	exon11			GTCATGTTCGCGG	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1692T>A	10.37:g.72498690T>A	ENSP00000362303:p.Cys564*	Somatic	72	1		WXS	Illumina GAIIx	Phase_I	42	4	NM_139155	0	0	0	0	0	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Nonsense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	T	38	6.828038	0.97869	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.89	-0.0368	0.13887	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9927	0.36033	0.0:0.4925:0.0:0.5075	.	.	.	.	X	567;564	.	ENSP00000362303:C564X	C	+	3	2	ADAMTS14	72168696	1.000000	0.71417	0.967000	0.41034	0.969000	0.65631	0.959000	0.29240	0.065000	0.16485	0.374000	0.22700	TGT	.		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72498690	T	A	72498690	4	1	57	1	0	0	0	0	0	1	0	0	259	1731	60	5	1743	5	ADAMTS14	10	72498690	Nonsense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	592540	72498690	63036057	29	11856											
TAF5	6877	hgsc.bcm.edu	37	chr10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggcagtggcgggcTccggagccccgggagaggtg	22	9	0	1	rs10883859	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3	5	4		388	1.9	1	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_006951	0	0	0	1	1	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105128134	T	G	105128134	3	3	57	1	0	0	0	0	1	0	0	0	15575	1551	54	5	390	5	TAF5	10	105128134	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	32629444	105128134	30406613	30	11857											
KNDC1	85442	hgsc.bcm.edu	37	chr10	135015263	135015263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccttgtcccccggccCagccggattccagagctgca	10	19	0	1	rs199987564	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr10:135015263C>T	ENST00000304613.3	+	17	3269	c.3248C>T	c.(3247-3249)cCa>cTa	p.P1083L	KNDC1_ENST00000368571.2_Missense_Mutation_p.P1018L|KNDC1_ENST00000368572.2_Missense_Mutation_p.P1085L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1083					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCCCCGGCCCAGCCGGATTC	0.706													C|||	2	0.000399361	0	0	5008	,	,		14257	0		0.002	False		,,,				2504	0				p.P1083L		.											.	KNDC1-229	0			c.C3248T						.	C	LEU/PRO	1,4369		0,1,2184	10	13	12		3248	3.4	0	10		12	9,8525		0,9,4258	no	missense	KNDC1	NM_152643.6	98	0,10,6442	TT,TC,CC		0.1055,0.0229,0.0775	benign	1083/1750	135015263	10,12894	2185	4267	6452	SO:0001583	missense	85442	exon17			CCGGCCCAGCCGG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3248C>T	10.37:g.135015263C>T	ENSP00000304437:p.Pro1083Leu	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	66	9	NM_152643	0	0	9	9	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177605	0.57692	2.29E-4	0.001055	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11604	2.76;2.76;2.76	4.3	3.39	0.38822	.	0.531595	0.15745	N	0.246723	T	0.11153	0.0272	L	0.53249	1.67	0.18873	N	0.999988	B;B;B	0.33318	0.154;0.408;0.296	B;B;B	0.32980	0.156;0.135;0.041	T	0.19745	-1.0296	10	0.21014	T	0.42	-2.5559	10.3324	0.43831	0.0:0.899:0.0:0.101	.	1083;1018;1083	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	L	1083;1085;1018	ENSP00000304437:P1083L;ENSP00000357561:P1085L;ENSP00000357560:P1018L	ENSP00000304437:P1083L	P	+	2	0	KNDC1	134865253	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.040000	0.12104	0.925000	0.37094	0.313000	0.20887	CCA	.		0.706	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135015263	C	T	135015263	3	4	57	1	0	0	0	0	1	0	0	0	8453	594	21	3	3314	3	KNDC1	10	135015263	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	29887129	135015263	519484	31	11858											
RASSF7	8045	broad.mit.edu;ucsc.edu	37	chr11	562525	562525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggagcgagagggacagGcacgcctgcaggcactaagt	16	12	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:562525G>A	ENST00000397583.3	+	3	1004	c.571G>A	c.(571-573)Gca>Aca	p.A191T	RASSF7_ENST00000454668.2_Missense_Mutation_p.A191T|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.A191T|RASSF7_ENST00000431809.1_Missense_Mutation_p.A191T|RASSF7_ENST00000344375.4_Missense_Mutation_p.A191T	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	191					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGGGACAGGCACGCCTGCA	0.701																																					p.A191T	Pancreas(184;1170 3913 7268)	.											.	RASSF7-91	0			c.G571A						.						13	13	13					11																	562525		1904	3711	5615	SO:0001583	missense	8045	exon3			GGACAGGCACGCC	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.571G>A	11.37:g.562525G>A	ENSP00000380713:p.Ala191Thr	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	46	5	NM_001143994	0	0	4	4	0	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304531	0.23736	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	4.05	3.12	0.35913	.	0.418236	0.25680	N	0.029007	D	0.85617	0.5738	L	0.51422	1.61	0.09310	N	1	P;P;P	0.43477	0.642;0.808;0.642	B;B;B	0.35278	0.199;0.168;0.199	T	0.76413	-0.2968	10	0.22109	T	0.4	5.9654	9.2634	0.37625	0.0857:0.2218:0.6925:0.0	.	191;191;191	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	T	191	ENSP00000403068:A191T;ENSP00000380712:A191T;ENSP00000344226:A191T;ENSP00000380713:A191T;ENSP00000405606:A191T	ENSP00000344226:A191T	A	+	1	0	RASSF7	552525	0.124000	0.22315	0.946000	0.38457	0.133000	0.20885	0.419000	0.21247	1.824000	0.53156	0.462000	0.41574	GCA	.		0.701	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		A	562525	G	A	562525	3	1	57	1	0	0	0	0	1	0	0	0	13136	1203	42	3	577	3	RASSF7	11	562525	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		562525	134443991	32	11859											
SYT8	90019	hgsc.bcm.edu	37	chr11	1858572	1858572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggcccattgcccagCggcaccccctgcggccagcc	12	22	0	0	rs2292474	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:1858572C>T	ENST00000381968.3	+	9	1245	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.R359W	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	373					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CATTGCCCAGCGGCACCCCCT	0.731													T|||	1928	0.384984	0.1679	0.415	5008	,	,		13483	0.378		0.498	False		,,,				2504	0.5481				p.R373W		.											.	SYT8-91	0			c.C1117T						.	T	TRP/ARG	906,3442		119,668,1387	12	14	14		1117	2.7	1	11	dbSNP_100	14	4072,4398		1026,2020,1189	no	missense	SYT8	NM_138567.3	101	1145,2688,2576	TT,TC,CC		48.0756,20.8372,38.836	benign	373/402	1858572	4978,7840	2174	4235	6409	SO:0001583	missense	90019	exon9			GCCCAGCGGCACC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1117C>T	11.37:g.1858572C>T	ENSP00000371394:p.Arg373Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	855|855	0.3914835164835165|0.3914835164835165	84|84	0.17073170731707318|0.17073170731707318	163|163	0.45027624309392267|0.45027624309392267	226|226	0.3951048951048951|0.3951048951048951	382|382	0.503957783641161|0.503957783641161	t|t	1.107|1.107	-0.659353|-0.659353	0.03454|0.03454	0.208372|0.208372	0.480756|0.480756	ENSG00000149043|ENSG00000149043	ENST00000381978|ENST00000381968;ENST00000341958	.|T;T	.|0.03951	.|3.77;3.75	3.85|3.85	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00005|0.00005	-3.275|-3.275	0.09310|0.09310	P|P	1.0|1.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.41928|0.41928	-0.9481|-0.9481	4|8	.|0.02654	.|T	.|1	.|.	8.5203|8.5203	0.33270|0.33270	0.0:0.1655:0.0:0.8345|0.0:0.1655:0.0:0.8345	rs2292474|rs2292474	.|373;359	.|Q8NBV8;A6NCR4	.|SYT8_HUMAN;.	V|W	371|373;359	.|ENSP00000371394:R373W;ENSP00000343691:R359W	.|ENSP00000343691:R359W	A|R	+|+	2|1	0|2	SYT8|SYT8	1815148|1815148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.293000|0.293000	0.27360|0.27360	3.304000|3.304000	0.51866|0.51866	0.174000|0.174000	0.19809|0.19809	-0.665000|-0.665000	0.03846|0.03846	GCG|CGG	C|0.602;T|0.398		0.731	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858572	C	T	1858572	3	4	57	1	0	0	0	0	1	0	0	0	15527	759	27	1	1151	1	SYT8	11	1858572	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	1296047	1858572	133147944	33	11860											
OR51D1	390038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	4661767	4661767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcggagggcagcactcaaGgctttcaacacctgcatctc	9	14	4	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:4661767G>T	ENST00000357605.2	+	1	823	c.747G>T	c.(745-747)aaG>aaT	p.K249N	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCACTCAAGGCTTTCAACA	0.552																																					p.K249N		.											.	OR51D1-68	0			c.G747T						.						179	162	168					11																	4661767		2201	4298	6499	SO:0001583	missense	390038	exon1			ACTCAAGGCTTTC	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.747G>T	11.37:g.4661767G>T	ENSP00000350222:p.Lys249Asn	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	80	69	NM_001004751	0	0	0	0	0	B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671428	0.29693	.	.	ENSG00000197428	ENST00000357605	T	0.00374	7.72	4.58	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000247	T	0.01421	0.0046	H	0.97131	3.945	0.40612	D	0.981686	D	0.76494	0.999	D	0.79108	0.992	T	0.32188	-0.9916	10	0.87932	D	0	.	8.6498	0.34027	0.2599:0.0:0.7401:0.0	.	249	Q8NGF3	O51D1_HUMAN	N	249	ENSP00000350222:K249N	ENSP00000350222:K249N	K	+	3	2	OR51D1	4618343	0.181000	0.23161	1.000000	0.80357	0.097000	0.18754	-0.442000	0.06871	0.637000	0.30526	0.563000	0.77884	AAG	.		0.552	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		T	4661767	G	T	4661767	3	4	57	1	0	0	0	0	1	0	0	0	11132	991	35	3	749	3	OR51D1	11	4661767	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	2803195	4661767	130344749	34	11861											
PTPMT1	114971	hgsc.bcm.edu	37	chr11	47587369	47587369	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagccgggccggggagccCgggcccctgccccgtccccg	17	19	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:47587369C>T	ENST00000326674.9	+	1	196				PTPMT1_ENST00000426530.2_Silent_p.P65P|PTPMT1_ENST00000534775.1_Silent_p.P65P|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326656.8_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1						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)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CCGGGGAGCCCGGGCCCCTGC	0.741																																					p.P65P		.											.	PTPMT1-23	0			c.C195T						.						5	6	6					11																	47587369		1777	3929	5706	SO:0001627	intron_variant	114971	exon1			GGAGCCCGGGCCC	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.174+21C>T	11.37:g.47587369C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	35	34	NM_001143984	0	0	1	2	1	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Silent	SNP	ENST00000326674.9	37	CCDS41643.1																																																																																			.		0.741	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		T	47587369	C	T	47587369	1	4	57	0	1	0	0	0	0	0	0	0	12821	639	23	1		1	PTPMT1	11	47587369	Intron	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	42925602	47587369	87419147	35	11862											
OR5D18	219438	bcgsc.ca	37	chr11	55587212	55587212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtttttctggccatctAcaatgtcactgtgctaggga	10	10	3	0	rs7948629	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:55587212A>G	ENST00000333976.4	+	1	127	c.107A>G	c.(106-108)tAc>tGc	p.Y36C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	36			Y -> C (in dbSNP:rs7948629).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTGGCCATCTACAATGTCACT	0.458													N|||	123	0.0245607	0.003	0.0259	5008	,	,		17251	0.001		0.0616	False		,,,				2504	0.0389				p.Y36C		.											.	OR5D18-71	0			c.A107G						.	A	CYS/TYR	42,4358		0,42,2158	161	150	154		107	3.6	0.2	11	dbSNP_116	154	535,8057		23,489,3784	yes	missense	OR5D18	NM_001001952.1	194	23,531,5942	GG,GA,AA		6.2267,0.9545,4.4412	probably-damaging	36/314	55587212	577,12415	2200	4296	6496	SO:0001583	missense	219438	exon1			CCATCTACAATGT	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.107A>G	11.37:g.55587212A>G	ENSP00000335025:p.Tyr36Cys	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	147	6	NM_001001952	0	0	0	0	0	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	50	0.022893772893772892	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	43	0.05672823218997362	.	14.11	2.437675	0.43224	0.009545	0.062267	ENSG00000186119	ENST00000333976	T	0.04706	3.57	4.79	3.64	0.41730	.	0.000000	0.35677	N	0.003044	T	0.02888	0.0086	M	0.92649	3.33	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.02263	-1.1186	10	0.87932	D	0	-30.0673	10.1492	0.42782	0.8503:0.0:0.0:0.1497	rs7948629;rs56831774;rs7948629	36	Q8NGL1	OR5DI_HUMAN	C	36	ENSP00000335025:Y36C	ENSP00000335025:Y36C	Y	+	2	0	OR5D18	55343788	0.971000	0.33674	0.157000	0.22605	0.859000	0.49053	2.534000	0.45676	0.801000	0.34066	0.514000	0.50259	TAC	A|0.964;G|0.036		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		G	55587212	A	G	55587212	3	3	57	1	0	0	0	0	1	0	0	0	11196	391	14	4	109	4	OR5D18	11	55587212	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10	7999843	55587212	79419304	36	11863											
SLC37A2	219855	bcgsc.ca	37	chr11	124951752	124951752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaaatgctccaaggggCcatgcgaagagcctgctgcc	13	13	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr11:124951752C>T	ENST00000403796.2	+	9	1136	c.835C>T	c.(835-837)Cca>Tca	p.P279S	SLC37A2_ENST00000407458.1_Missense_Mutation_p.P279S|SLC37A2_ENST00000298280.5_Missense_Mutation_p.P279S|SLC37A2_ENST00000308074.4_Missense_Mutation_p.P279S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	279					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTCCAAGGGGCCATGCGAAGA	0.562																																					p.P279S	Melanoma(11;373 620 21213 26083 47768)	.											.	SLC37A2-92	0			c.C835T						.						63	61	62					11																	124951752		2201	4299	6500	SO:0001583	missense	219855	exon9			AAGGGGCCATGCG	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.835C>T	11.37:g.124951752C>T	ENSP00000384407:p.Pro279Ser	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	94	5	NM_001145290	0	0	2	2	0	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	C	1.692	-0.503725	0.04261	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.0	2.1	0.27182	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.748249	0.13178	N	0.407746	T	0.27697	0.0681	N	0.11064	0.09	0.35839	D	0.825915	B;B	0.06786	0.001;0.001	B;B	0.13407	0.002;0.009	T	0.20306	-1.0279	10	0.08599	T	0.76	-0.3753	8.1322	0.31033	0.0:0.7524:0.1587:0.0889	.	279;279	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	S	279	ENSP00000384407:P279S;ENSP00000385126:P279S;ENSP00000298280:P279S;ENSP00000311833:P279S	ENSP00000298280:P279S	P	+	1	0	SLC37A2	124456962	0.014000	0.17966	0.234000	0.24042	0.025000	0.11179	1.099000	0.31013	0.644000	0.30656	-0.150000	0.13652	CCA	.		0.562	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		T	124951752	C	T	124951752	3	4	57	1	0	0	0	0	1	0	0	0	14643	739	26	3	869	3	SLC37A2	11	124951752	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	69364540	124951752	10054764	37	11864											
KLRB1	3820	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	9751229	9751229	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgccaatatattgggcAgtttaagagacccggtctct	10	9	1	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr12:9751229A>T	ENST00000229402.3	-	4	326	c.280T>A	c.(280-282)Tgc>Agc	p.C94S		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	94					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						TATATTGGGCAGTTTAAGAGA	0.383																																					p.C94S		.											.	KLRB1-90	0			c.T280A						.						78	80	79					12																	9751229		2203	4300	6503	SO:0001583	missense	3820	exon4			TTGGGCAGTTTAA	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.280T>A	12.37:g.9751229A>T	ENSP00000229402:p.Cys94Ser	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	152	11	NM_002258	0	0	5	5	0	Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986388	0.53934	.	.	ENSG00000111796	ENST00000229402	T	0.38887	1.11	3.63	3.63	0.41609	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.48767	D	0.000168	T	0.57286	0.2043	M	0.67700	2.07	0.28518	N	0.913209	D	0.89917	1.0	D	0.71414	0.973	T	0.52525	-0.8564	10	0.87932	D	0	-8.6217	8.9346	0.35691	1.0:0.0:0.0:0.0	.	94	Q12918	KLRB1_HUMAN	S	94	ENSP00000229402:C94S	ENSP00000229402:C94S	C	-	1	0	KLRB1	9642496	0.872000	0.30054	0.506000	0.27664	0.007000	0.05969	2.786000	0.47790	1.879000	0.54435	0.528000	0.53228	TGC	.		0.383	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		T	9751229	A	T	9751229	3	4	57	1	0	0	0	0	1	0	0	0	8441	188	7	5	408	5	KLRB1	12	9751229	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		9751229	124100666	38	11865											
PABPC3	5042	broad.mit.edu	37	chr13	25671714	25671714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagagtaccatttagtactAtgagaccagcttcttcacag	7	10	2	2	rs61739066	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr13:25671714A>G	ENST00000281589.3	+	1	1415	c.1378A>G	c.(1378-1380)Atg>Gtg	p.M460V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	460					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)		ATTTAGTACTATGAGACCAGC	0.537													a|||	11	0.00219649	0	0.0029	5008	,	,		23014	0		0.007	False		,,,				2504	0.002				p.M460V		.											.	PABPC3-72	0			c.A1378G						.	A	VAL/MET	5,4401	9.9+/-24.2	0,5,2198	114	108	110		1378	-0.7	1	13	dbSNP_129	110	75,8525	44.5+/-102.8	0,75,4225	yes	missense	PABPC3	NM_030979.2	21	0,80,6423	GG,GA,AA		0.8721,0.1135,0.6151	benign	460/632	25671714	80,12926	2203	4300	6503	SO:0001583	missense	5042	exon1			AGTACTATGAGAC	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.1378A>G	13.37:g.25671714A>G	ENSP00000281589:p.Met460Val	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	117	4	NM_030979	0	0	0	0	0	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	A	0.005	-2.155195	0.00325	0.001135	0.008721	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.745	0.11098	.	0.000000	0.56097	U	0.000023	T	0.06234	0.0161	N	0.10782	0.045	0.33109	D	0.540323	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	10	0.13853	T	0.58	.	4.2065	0.10491	0.5788:0.0:0.4212:0.0	rs61739066	460	Q9H361	PABP3_HUMAN	V	460	ENSP00000281589:M460V	ENSP00000281589:M460V	M	+	1	0	PABPC3	24569714	1.000000	0.71417	0.977000	0.42913	0.068000	0.16541	3.896000	0.56266	-0.276000	0.09206	0.260000	0.18958	ATG	A|0.996;G|0.004		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25671714	A	G	25671714	3	3	57	1	0	0	0	0	1	0	0	0	11404	449	16	4	1380	4	PABPC3	13	25671714	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		25671714	89498164	39	11866											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_005537	0	0	0	3	3	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	57	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	85696602	111368316	3801562	40	11867											
CDH24	64403	bcgsc.ca	37	chr14	23518918	23518918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgttgccaacttcatcTctgtccagggcccggatgac	9	14	2	1	rs11623976	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr14:23518918T>C	ENST00000267383.5	-	10	1721	c.1629A>G	c.(1627-1629)agA>agG	p.R543R	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.R505R|CDH24_ENST00000487137.2_Silent_p.R505R|CDH24_ENST00000397359.3_Silent_p.R543R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	543	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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CAACTTCATCTCTGTCCAGGG	0.582													T|||	584	0.116613	0.0204	0.1398	5008	,	,		19997	0.004		0.2604	False		,,,				2504	0.1984				p.R543R		.											.	CDH24-90	0			c.A1629G						.	T	,	249,4157	143.5+/-178.5	6,237,1960	60	53	56		1629,1515	2.3	1	14	dbSNP_120	56	2068,6532	357.3+/-330.7	248,1572,2480	no	coding-synonymous,coding-synonymous	CDH24	NM_022478.3,NM_144985.3	,	254,1809,4440	CC,CT,TT		24.0465,5.6514,17.8149	,	543/820,505/782	23518918	2317,10689	2203	4300	6503	SO:0001819	synonymous_variant	64403	exon11			TTCATCTCTGTCC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1629A>G	14.37:g.23518918T>C		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	83	5	NM_022478	0	0	0	0	0	D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	CCDS9585.1																																																																																			T|0.841;C|0.159		0.582	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		C	23518918	T	C	23518918	2	2	57	1	0	0	0	0	0	0	0	1	3116	1548	54	4		4	CDH24	14	23518918	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10		23518918	83830622	41	11868											
KIAA1409	57578	bcgsc.ca	37	chr14	94152959	94152959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgaggcagtacatcaaCgaagtgctggatttcatggc	13	7	2	1	rs76973270	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr14:94152959C>T	ENST00000393151.2	+	44	6978	c.6978C>T	c.(6976-6978)aaC>aaT	p.N2326N	UNC79_ENST00000553484.1_Silent_p.N2348N|UNC79_ENST00000555664.1_Silent_p.N2287N|UNC79_ENST00000256339.4_Silent_p.N2149N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2326					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						AGTACATCAACGAAGTGCTGG	0.507													C|||	130	0.0259585	0.0015	0.0187	5008	,	,		21966	0.002		0.0497	False		,,,				2504	0.0644				p.N2149N		.											.	.	0			c.C6447T						.	C		37,4369	41.6+/-74.8	0,37,2166	221	148	173		6447	-2.3	0.2	14	dbSNP_131	173	336,8264	115.7+/-175.5	5,326,3969	no	coding-synonymous	UNC79	NM_020818.3		5,363,6135	TT,TC,CC		3.907,0.8398,2.8679		2149/2459	94152959	373,12633	2203	4300	6503	SO:0001819	synonymous_variant	57578	exon44			CATCAACGAAGTG	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.6978C>T	14.37:g.94152959C>T		Somatic	204	0		WXS	Illumina GAIIx	Phase_I	127	8	NM_020818	0	0	0	0	0	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																				C|0.972;T|0.028		0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94152959	C	T	94152959	2	4	57	1	0	0	0	0	0	0	0	1	8257	535	19	1		1	KIAA1409	14	94152959	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	70634041	94152959	13196581	42	11869											
LIPC	3990	bcgsc.ca	37	chr15	58834741	58834741	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcttccaggaatctgtGcaactctctcgaagccatgt	9	12	3	0	rs690	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr15:58834741G>T	ENST00000356113.6	+	6	1080	c.465G>T	c.(463-465)gtG>gtT	p.V155V	LIPC_ENST00000299022.5_Silent_p.V155V|LIPC_ENST00000414170.3_Silent_p.V155V|LIPC_ENST00000433326.2_Silent_p.V94V			P11150	LIPC_HUMAN	lipase, hepatic	155					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)		AGGAATCTGTGCAACTCTCTC	0.562													T|||	2394	0.478035	0.5484	0.4308	5008	,	,		21003	0.2401		0.5606	False		,,,				2504	0.5767				p.V155V		.											.	LIPC-91	0			c.G465T						.	T		2460,1924	548.5+/-377.6	691,1078,423	177	156	163		465	-7.9	0	15	dbSNP_36	163	5047,3537	515.3+/-378.6	1493,2061,738	no	coding-synonymous	LIPC	NM_000236.2		2184,3139,1161	TT,TG,GG		41.2046,43.8869,42.1114		155/500	58834741	7507,5461	2192	4292	6484	SO:0001819	synonymous_variant	3990	exon4			ATCTGTGCAACTC		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.465G>T	15.37:g.58834741G>T		Somatic	232	2		WXS	Illumina GAIIx	Phase_I	187	7	NM_000236	0	0	0	0	0	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																			G|0.489;T|0.511		0.562	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			T	58834741	G	T	58834741	2	4	57	1	0	0	0	0	0	0	0	1	8850	1306	46	3		3	LIPC	15	58834741	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		58834741	43696651	43	11870											
C16orf3	2622	bcgsc.ca	37	chr16	90095596	90095597	+	Intron	DNP	AT	AT	GC													ggcagcttacggggcaggctAtggggcagcctacggggcag					rs61118444|rs55742939|rs71137702	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																					p.I52A		.											.	C16orf3-90	0			c.A154G						.																																			SO:0001627	intron_variant	750	exon1			AGGCTATGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	110	0	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	DNP	ENST00000268699.4	37	CCDS10992.1																																																																																			T|0.361;C|0.639		0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	57	0	1	0	0	0	0	0	0	0	1817	449	16	4		4	C16orf3	16	90095596	Intron	DNP	AT	TCGA-OR-A5LR-01A-11D-A29I-10		90095596	259157	44	11871											
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274238	39274238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggcgAcagcagctggagatgcagca	15	11	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																					p.C110C		.											.	.	0			c.T330C						.						5	9	8					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240	exon1			GGGGCGACAGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	104	7	NM_033059	0	0	0	0	0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																			.		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			G	39274238	A	G	39274238	2	3	57	1	0	0	0	0	0	0	0	1	8577	273	10	4		4	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		39274238	41920972	45	11872											
SP6	80320	hgsc.bcm.edu	37	chr17	45925222	45925222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccggggcggctacttccaAggccttagccccgtcgggcg	14	16	0	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr17:45925222A>C	ENST00000536300.1	-	2	905	c.574T>G	c.(574-576)Ttg>Gtg	p.L192V	SP6_ENST00000342234.2_Missense_Mutation_p.L192V	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	192					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GCTACTTCCAAGGCCTTAGCC	0.716																																					p.L192V		.											.	SP6-91	0			c.T574G						.																																			SO:0001583	missense	80320	exon2			CTTCCAAGGCCTT		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.574T>G	17.37:g.45925222A>C	ENSP00000438209:p.Leu192Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	13	9	NM_001258248	0	0	0	2	2	B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.676439	0.29783	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.07688	3.17;3.17	4.5	0.958	0.19619	.	0.000000	0.34853	N	0.003637	T	0.02230	0.0069	N	0.00841	-1.15	0.26753	N	0.970157	P	0.36535	0.557	B	0.39805	0.31	T	0.44982	-0.9292	10	0.09338	T	0.73	.	7.1414	0.25558	0.6236:0.0:0.3764:0.0	.	192	Q3SY56	SP6_HUMAN	V	192	ENSP00000340799:L192V;ENSP00000438209:L192V	ENSP00000340799:L192V	L	-	1	2	SP6	43280221	0.003000	0.15002	0.998000	0.56505	0.960000	0.62799	0.051000	0.14141	0.267000	0.21916	0.379000	0.24179	TTG	.		0.716	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		C	45925222	A	C	45925222	3	2	57	1	0	0	0	0	1	0	0	0	15013	69	3	5	560	5	SP6	17	45925222	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10	6650984	45925222	35269988	46	11873											
SP2	6668	broad.mit.edu	37	chr17	45994401	45994401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccccagcaggctctgCgggtggtgcaggcggcatct	15	13	2	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr17:45994401C>T	ENST00000376741.4	+	3	1101	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	322					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCAGGCTCTGCGGGTGGTGCA	0.667																																					p.R322W		.											.	SP2-90	0			c.C964T						.						34	35	35					17																	45994401		2202	4296	6498	SO:0001583	missense	6668	exon3			GCTCTGCGGGTGG		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.964C>T	17.37:g.45994401C>T	ENSP00000365931:p.Arg322Trp	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	66	4	NM_003110	0	0	2	2	0	A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558458	0.65538	.	.	ENSG00000167182	ENST00000376741	T	0.09723	2.95	5.41	4.43	0.53597	.	0.059538	0.64402	D	0.000005	T	0.24509	0.0594	L	0.51422	1.61	0.49798	D	0.999821	D	0.89917	1.0	D	0.65573	0.936	T	0.00780	-1.1569	10	0.72032	D	0.01	.	12.2793	0.54755	0.3376:0.6624:0.0:0.0	.	322	Q02086	SP2_HUMAN	W	322	ENSP00000365931:R322W	ENSP00000365931:R322W	R	+	1	2	SP2	43349400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.362000	0.44169	1.439000	0.47511	0.563000	0.77884	CGG	.		0.667	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		T	45994401	C	T	45994401	3	4	57	1	0	0	0	0	1	0	0	0	15009	759	27	1	974	1	SP2	17	45994401	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	69179	45994401	35200809	47	11874											
FADS6	283985	ucsc.edu	37	chr17	72889685	72889685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttccatgggctccgtGggttccatggactctgtggg	16	9	1	0	rs2683274	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr17:72889685G>A	ENST00000310226.6	-	1	23	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	9	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGGCTCCGTGGGTTCCATGG	0.746																																					p.P3P		.											.	FADS6-22	0			c.C9T						.																																			SO:0001819	synonymous_variant	283985	exon1			CTCCGTGGGTTCC	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.9C>T	17.37:g.72889685G>A		Somatic	33	3		WXS	Illumina GAIIx	Phase_I	102	31	NM_178128	0	0	0	0	0	Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	CCDS54163.1																																																																																			G|0.500;A|0.500		0.746	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			A	72889685	G	A	72889685	2	1	57	1	0	0	0	0	0	0	0	1	5387	1335	47	3		3	FADS6	17	72889685	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	26895284	72889685	8305525	48	11875											
AATK	9625	hgsc.bcm.edu	37	chr17	79096115	79096115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggtcgtggccggCggcgggtgcggcctcctcta	18	13	2	0	rs61738821	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr17:79096115C>T	ENST00000326724.4	-	11	1645	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	AATK_ENST00000417379.1_Missense_Mutation_p.A438T|AATK_ENST00000572339.1_5'Flank|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	541				A -> T (in Ref. 1; BAD18544). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCGTGGCCGGCGGCGGGTGCG	0.756													C|||	710	0.141773	0.2451	0.0836	5008	,	,		7975	0.0337		0.1342	False		,,,				2504	0.1626				p.A541T		.											.	AATK-933	0			c.G1621A						.						2	2	2					17																	79096115		1391	2783	4174	SO:0001583	missense	9625	exon11			GGCCGGCGGCGGG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1621G>A	17.37:g.79096115C>T	ENSP00000324196:p.Ala541Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001080395	0	0	0	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	322	0.14743589743589744	149	0.30284552845528456	49	0.13535911602209943	11	0.019230769230769232	113	0.14907651715039577	C	10.34	1.324257	0.24080	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.77489	-1.1;-1.09	4.26	3.26	0.37387	.	0.388682	0.24547	N	0.037589	T	0.00012	0.0000	L	0.48642	1.525	0.80722	P	0.0	P	0.45986	0.87	B	0.27608	0.081	T	0.05716	-1.0868	9	0.29301	T	0.29	.	11.2582	0.49067	0.1833:0.8167:0.0:0.0	rs61738821	541	Q6ZMQ8	LMTK1_HUMAN	T	541;505	ENSP00000324196:A541T;ENSP00000363924:A505T	ENSP00000324196:A541T	A	-	1	0	AATK	76710710	0.009000	0.17119	0.030000	0.17652	0.032000	0.12392	0.876000	0.28092	0.731000	0.32448	0.561000	0.74099	GCC	C|0.850;T|0.150		0.756	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79096115	C	T	79096115	3	4	57	1	0	0	0	0	1	0	0	0	26	768	27	1	2519	1	AATK	17	79096115	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	6206430	79096115	2099095	49	11876											
VAPA	9218	broad.mit.edu;bcgsc.ca	37	chr18	9914291	9914291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgaagcacgagcAgatcctggtcctcgatccgc	13	14	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr18:9914291A>G	ENST00000400000.2	+	1	293	c.38A>G	c.(37-39)cAg>cGg	p.Q13R	RP11-474N24.6_ENST00000609787.1_lincRNA|VAPA_ENST00000340541.4_Missense_Mutation_p.Q13R	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	13					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|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)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						AAGCACGAGCAGATCCTGGTC	0.716																																					p.Q13R		.											.	VAPA-90	0			c.A38G						.						20	22	21					18																	9914291		1923	4127	6050	SO:0001583	missense	9218	exon1			ACGAGCAGATCCT		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.38A>G	18.37:g.9914291A>G	ENSP00000382880:p.Gln13Arg	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	86	6	NM_003574	0	0	91	92	1	A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266539	0.40095	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.62788	-0.0;-0.0	4.16	4.16	0.48862	PapD-like (2);	0.118979	0.64402	D	0.000019	T	0.61590	0.2359	M	0.78916	2.43	0.44129	D	0.996912	B;B	0.18166	0.005;0.026	B;B	0.23018	0.013;0.043	T	0.59669	-0.7411	9	.	.	.	-8.9302	11.4876	0.50363	1.0:0.0:0.0:0.0	.	13;13	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	R	13	ENSP00000345656:Q13R;ENSP00000382880:Q13R	.	Q	+	2	0	VAPA	9904291	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.218000	0.58554	1.532000	0.49169	0.165000	0.16767	CAG	.		0.716	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			G	9914291	A	G	9914291	3	3	57	1	0	0	0	0	1	0	0	0	17170	188	7	4	40	4	VAPA	18	9914291	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		9914291	68162957	50	11877											
GNAL	2774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	11752854	11752854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgtttgtttgcagggGctggtgagtctgggaaaagc	15	6	2	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr18:11752854G>A	ENST00000423027.3	+	2	469	c.148G>A	c.(148-150)Gct>Act	p.A50T	GNAL_ENST00000334049.6_Missense_Mutation_p.A127T|GNAL_ENST00000535121.1_Missense_Mutation_p.A50T|GNAL_ENST00000269162.5_Missense_Mutation_p.A50T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	50					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)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GTTTGCAGGGGCTGGTGAGTC	0.517																																					p.A127T		.											.	GNAL-228	0			c.G379A						.						147	135	139					18																	11752854		2203	4300	6503	SO:0001583	missense	2774	exon2			GCAGGGGCTGGTG	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.148G>A	18.37:g.11752854G>A	ENSP00000408489:p.Ala50Thr	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	112	86	NM_182978	0	0	0	0	0	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403213	0.96051	.	.	ENSG00000141404	ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.04	5.04	0.67666	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.97110	1.0;0.897	D	0.92867	0.6311	10	0.44086	T	0.13	.	18.5611	0.91100	0.0:0.0:1.0:0.0	.	50;127	P38405;Q86XU3	GNAL_HUMAN;.	T	127;50;50;50	ENSP00000334051:A127T;ENSP00000439023:A50T;ENSP00000269162:A50T;ENSP00000408489:A50T	ENSP00000269162:A50T	A	+	1	0	GNAL	11742854	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.141000	0.94612	2.603000	0.88011	0.462000	0.41574	GCT	.		0.517	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		A	11752854	G	A	11752854	3	1	57	1	0	0	0	0	1	0	0	0	6533	1203	42	3	534	3	GNAL	18	11752854	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	1838563	11752854	66324394	51	11878											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9063253	9063253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggattcatgtccagaacTggaggtccccacatcggtca	11	11	2	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr19:9063253T>C	ENST00000397910.4	-	3	24396	c.24193A>G	c.(24193-24195)Agt>Ggt	p.S8065G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8067	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						TGTCCAGAACTGGAGGTCCCC	0.473																																					p.S8065G		.											.	MUC16-566	0			c.A24193G						.						109	106	107					19																	9063253		2078	4210	6288	SO:0001583	missense	94025	exon3			CAGAACTGGAGGT	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.24193A>G	19.37:g.9063253T>C	ENSP00000381008:p.Ser8065Gly	Somatic	245	0		WXS	Illumina GAIIx	Phase_I	165	113	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.409	0.443600	0.12164	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	3.15	2.13	0.27403	.	.	.	.	.	T	0.21761	0.0524	L	0.53249	1.67	.	.	.	B	0.23650	0.089	B	0.16289	0.015	T	0.19976	-1.0289	8	0.87932	D	0	.	5.2183	0.15354	0.0:0.1373:0.0:0.8627	.	8065	B5ME49	.	G	8065	ENSP00000381008:S8065G	ENSP00000381008:S8065G	S	-	1	0	MUC16	8924253	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.046000	0.11983	0.597000	0.29811	0.416000	0.27883	AGT	.		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9063253	T	C	9063253	3	2	57	1	0	0	0	0	1	0	0	0	10011	1580	55	4	19658	4	MUC16	19	9063253	Missense_Mutation	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10		9063253	50065730	52	11879											
ISYNA1	51477	bcgsc.ca	37	chr19	18546678	18546678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaactgcaatggcgccgaTaggttctccccatcgttgtt	11	12	1	0	rs2303697	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr19:18546678T>C	ENST00000338128.8	-	8	1246	c.1029A>G	c.(1027-1029)ctA>ctG	p.L343L	ISYNA1_ENST00000578963.1_Silent_p.L215L|ISYNA1_ENST00000457269.4_Silent_p.L289L|ISYNA1_ENST00000317018.6_Silent_p.L141L|ISYNA1_ENST00000545187.1_Silent_p.L193L	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	343					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						ATGGCGCCGATAGGTTCTCCC	0.602													C|||	2366	0.472444	0.8298	0.3732	5008	,	,		15663	0.2163		0.3479	False		,,,				2504	0.4519				p.L343L		.											.	ISYNA1-92	0			c.A1029G	GRCh37	CM044082	ISYNA1	M	rs2303697	.	C	,,	3313,1093	394.0+/-329.1	1253,807,143	163	176	172		867,579,1029	0.8	1	19	dbSNP_100	172	2947,5653	668.2+/-402.5	537,1873,1890	no	coding-synonymous,coding-synonymous,coding-synonymous	ISYNA1	NM_001170938.1,NM_001170939.1,NM_016368.4	,,	1790,2680,2033	CC,CT,TT		34.2674,24.8071,48.1316	,,	289/505,193/409,343/559	18546678	6260,6746	2203	4300	6503	SO:0001819	synonymous_variant	51477	exon8			CGCCGATAGGTTC		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.1029A>G	19.37:g.18546678T>C		Somatic	164	0		WXS	Illumina GAIIx	Phase_I	183	7	NM_016368	0	0	93	93	0	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			T|0.535;C|0.465		0.602	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		C	18546678	T	C	18546678	2	2	57	1	0	0	0	0	0	0	0	1	7894	1393	49	4		4	ISYNA1	19	18546678	Silent	SNP	T	TCGA-OR-A5LR-01A-11D-A29I-10	9483425	18546678	40582305	53	11880											
MAG	4099	bcgsc.ca	37	chr19	35786868	35786868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccttctcagagcacagCgtcctggatatcgtcagtga	9	12	2	2	rs2301600	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr19:35786868C>T	ENST00000392213.3	+	4	558	c.399C>T	c.(397-399)agC>agT	p.S133S	MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Silent_p.S133S|MAG_ENST00000537831.2_Silent_p.S108S	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	133					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGCACAGCGTCCTGGATA	0.662													C|||	1450	0.289537	0.0998	0.3746	5008	,	,		17137	0.4226		0.2416	False		,,,				2504	0.3978				p.S133S		.											.	MAG-947	0			c.C399T						.	C	,,	519,3887		28,463,1712	88	86	87		324,399,399	2.8	1	19	dbSNP_100	87	1857,6739		199,1459,2640	no	coding-synonymous,coding-synonymous,coding-synonymous	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	,,	227,1922,4352	TT,TC,CC		21.6031,11.7794,18.2741	,,	108/602,133/627,133/583	35786868	2376,10626	2203	4298	6501	SO:0001819	synonymous_variant	4099	exon4			GCACAGCGTCCTG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.399C>T	19.37:g.35786868C>T		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	73	5	NM_080600	0	0	0	0	0	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																			C|0.780;T|0.220		0.662	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		T	35786868	C	T	35786868	2	4	57	1	0	0	0	0	0	0	0	1	9198	767	27	1		1	MAG	19	35786868	Silent	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	17240190	35786868	23342115	54	11881											
C20orf117	140710	hgsc.bcm.edu	37	chr20	35491180	35491180	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcgctgagcggcaagcGgctgctgcccaccgacgacg	16	15	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr20:35491180G>A	ENST00000357779.3	-	0	0				SOGA1_ENST00000279034.6_5'Flank|SOGA1_ENST00000237536.4_Missense_Mutation_p.R190C			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						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						AGCGGCAAGCGGCTGCTGCCC	0.776																																					p.R190C		.											.	.	0			c.C568T						.						1	2	1					20																	35491180		303	875	1178	SO:0001631	upstream_gene_variant	140710	exon1			GCAAGCGGCTGCT	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		20.37:g.35491180G>A	Exception_encountered	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	8	NM_080627	0	0	1	2	1	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.425604	0.83667	.	.	ENSG00000149639	ENST00000237536	T	0.19250	2.16	2.95	2.95	0.34219	.	.	.	.	.	T	0.36936	0.0985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	6	0.66056	D	0.02	-10.9934	13.0885	0.59154	0.0:0.0:1.0:0.0	.	.	.	.	C	190	ENSP00000237536:R190C	ENSP00000237536:R190C	R	-	1	0	KIAA0889	34924594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.766000	0.38491	1.664000	0.50801	0.436000	0.28706	CGC	.		0.776	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35491180	G	A	35491180	1	1	57	0	1	0	0	0	0	0	0	0	2090	1116	39	1		1	C20orf117	20	35491180	5'Flank	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		35491180	27534340	55	11882											
RUNX1	861	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	36259202	36259202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcacggagcagaggaAgttggggctgtcggtgcgca	19	8	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr21:36259202A>G	ENST00000344691.4	-	1	1785	c.208T>C	c.(208-210)Ttc>Ctc	p.F70L	RUNX1_ENST00000437180.1_Missense_Mutation_p.F97L|RUNX1_ENST00000300305.3_Missense_Mutation_p.F97L|RUNX1_ENST00000486278.2_Missense_Mutation_p.F73L|RUNX1_ENST00000325074.5_Missense_Mutation_p.F85L|RUNX1_ENST00000358356.5_Missense_Mutation_p.F70L|RUNX1_ENST00000399240.1_Missense_Mutation_p.F70L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	70	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V90_K117del(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GAGCAGAGGAAGTTGGGGCTG	0.697			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																p.F97L		.		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	.	RUNX1-5146	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.T289C						.						56	53	54					21																	36259202		2203	4300	6503	SO:0001583	missense	861	exon4			AGAGGAAGTTGGG	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.208T>C	21.37:g.36259202A>G	ENSP00000340690:p.Phe70Leu	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	104	23	NM_001754	0	0	0	0	0	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100093	0.76983	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	4.72	4.72	0.59763	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	M	0.64630	1.985	0.80722	D	1	D;P;D;P;D	0.76494	0.962;0.948;0.998;0.94;0.999	P;D;D;P;D	0.80764	0.775;0.956;0.992;0.566;0.994	D	0.99282	1.0896	10	0.46703	T	0.11	-27.4112	14.3606	0.66768	1.0:0.0:0.0:0.0	.	97;70;97;85;70	Q2TAM6;Q01196-3;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	L	70;97;97;85;70;73;70;85;73;84	ENSP00000340690:F70L;ENSP00000300305:F97L;ENSP00000409227:F97L;ENSP00000319459:F85L;ENSP00000382184:F70L;ENSP00000351123:F70L;ENSP00000382182:F85L;ENSP00000438019:F73L;ENSP00000388189:F84L	ENSP00000300305:F97L	F	-	1	0	RUNX1	35181072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.587000	0.90810	1.980000	0.57719	0.460000	0.39030	TTC	.		0.697	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			G	36259202	A	G	36259202	3	3	57	1	0	0	0	0	1	0	0	0	13791	72	3	4	1210	4	RUNX1	21	36259202	Missense_Mutation	SNP	A	TCGA-OR-A5LR-01A-11D-A29I-10		36259202	11870693	56	11883											
LIMK2	3985	broad.mit.edu	37	chr22	31674324	31674324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggactcctttgaggccctctCcctgtacctgggggagctgg	14	13	1	1	rs149034313	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr22:31674324C>G	ENST00000331728.4	+	16	1928	c.1814C>G	c.(1813-1815)tCc>tGc	p.S605C	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.S584C|LIMK2_ENST00000444929.2_Missense_Mutation_p.S359C	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGGCCCTCTCCCTGTACCTG	0.592													C|||	44	0.00878594	0	0.0043	5008	,	,		18334	0		0.001	False		,,,				2504	0.0409				p.S605C		.											.	LIMK2-548	0			c.C1814G						.	C	CYS/SER,CYS/SER	1,4405		0,1,2202	189	200	196		1814,1751	5.4	1	22	dbSNP_134	196	21,8579		0,21,4279	yes	missense,missense	LIMK2	NM_005569.3,NM_016733.2	112,112	0,22,6481	GG,GC,CC		0.2442,0.0227,0.1692	benign,benign	605/639,584/618	31674324	22,12984	2203	4300	6503	SO:0001583	missense	3985	exon16			CCCTCTCCCTGTA	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1814C>G	22.37:g.31674324C>G	ENSP00000332687:p.Ser605Cys	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	52	3	NM_005569	0	0	3	3	0	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	.	15.62	2.887290	0.52014	2.27E-4	0.002442	ENSG00000182541	ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611	T;T;T	0.74947	-0.89;-0.77;-0.83	5.37	5.37	0.77165	Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58708	0.2141	L	0.31476	0.935	0.54753	D	0.999985	B;B;B	0.24132	0.098;0.036;0.022	B;B;B	0.23852	0.049;0.022;0.013	T	0.59690	-0.7407	9	0.37606	T	0.19	.	18.0911	0.89476	0.0:1.0:0.0:0.0	.	637;359;605	F5GY29;E7EUC1;P53671	.;.;LIMK2_HUMAN	C	359;605;637;584	ENSP00000409522:S359C;ENSP00000332687:S605C;ENSP00000330470:S584C	ENSP00000332687:S605C	S	+	2	0	LIMK2	30004324	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.499000	0.60380	2.501000	0.84356	0.563000	0.77884	TCC	C|0.998;G|0.002		0.592	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		G	31674324	C	G	31674324	3	3	57	1	0	0	0	0	1	0	0	0	8831	855	30	3	2289	3	LIMK2	22	31674324	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10		31674324	19630242	57	11884											
PPPDE2	27351	bcgsc.ca	37	chr22	41997128	41997128	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgttgggtctgcccacGgagctccctcctggaggctg	15	14	1	0			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr22:41997128G>T	ENST00000263256.6	-	6	736	c.480C>A	c.(478-480)tcC>tcA	p.S160S	DESI1_ENST00000463886.1_5'Flank	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	160						cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										GTCTGCCCACGGAGCTCCCTC	0.577																																					p.S160S		.											.	.	0			c.C480A						.						36	36	36					22																	41997128		2203	4300	6503	SO:0001819	synonymous_variant	27351	exon6			GCCCACGGAGCTC	AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"family with sequence similarity 152, member B", "PPPDE peptidase domain containing 2"	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.480C>A	22.37:g.41997128G>T		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_015704	0	0	35	35	0		Silent	SNP	ENST00000263256.6	37	CCDS33652.1																																																																																			.		0.577	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704		T	41997128	G	T	41997128	2	4	57	1	0	0	0	0	0	0	0	1	12451	1103	39	2		2	PPPDE2	22	41997128	Silent	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10	10322804	41997128	9307438	58	11885											
CELSR1	9620	ucsc.edu;bcgsc.ca	37	chr22	46760481	46760481	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcctggtccggggggtactCtccacggtgactgccctgct	13	15	1	1	rs9615351	byFrequency	TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chr22:46760481C>G	ENST00000262738.3	-	33	8706	c.8707G>C	c.(8707-8709)Gag>Cag	p.E2903Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2903			E -> Q (in dbSNP:rs9615351).		anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGGGTACTCTCCACGGTGA	0.687													C|||	1203	0.240216	0.5492	0.1816	5008	,	,		16369	0.005		0.2455	False		,,,				2504	0.1012				p.E2903Q		.											.	CELSR1-525	0			c.G8707C						.	C	GLN/GLU	2305,2093	560.8+/-380.6	594,1117,488	31	36	34		8707	-1.8	0	22	dbSNP_119	34	2074,6516	337.7+/-322.4	228,1618,2449	yes	missense	CELSR1	NM_014246.1	29	822,2735,2937	GG,GC,CC		24.1444,47.5898,33.7157	possibly-damaging	2903/3015	46760481	4379,8609	2199	4295	6494	SO:0001583	missense	9620	exon33			GGTACTCTCCACG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8707G>C	22.37:g.46760481C>G	ENSP00000262738:p.Glu2903Gln	Somatic	12	0		WXS	Illumina GAIIx	Phase_I	52	47	NM_014246	0	0	0	1	1	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	515	0.2358058608058608	265	0.5386178861788617	73	0.20165745856353592	1	0.0017482517482517483	176	0.23218997361477572	C	11.43	1.635840	0.29068	0.524102	0.241444	ENSG00000075275	ENST00000262738	T	0.70516	-0.49	3.64	-1.76	0.08006	.	0.482328	0.14430	U	0.320053	T	0.00012	0.0000	L	0.61218	1.895	0.80722	P	0.0	P	0.39665	0.682	B	0.38428	0.273	T	0.43065	-0.9414	9	0.21540	T	0.41	.	2.3608	0.04307	0.1521:0.5191:0.1482:0.1806	rs9615351;rs60150914	2903	Q9NYQ6	CELR1_HUMAN	Q	2903	ENSP00000262738:E2903Q	ENSP00000262738:E2903Q	E	-	1	0	CELSR1	45139145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.527000	0.22987	-0.226000	0.09899	-0.251000	0.11542	GAG	C|0.700;G|0.300		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46760481	C	G	46760481	3	3	57	1	0	0	0	0	1	0	0	0	3228	922	32	3	349	3	CELSR1	22	46760481	Missense_Mutation	SNP	C	TCGA-OR-A5LR-01A-11D-A29I-10	4763353	46760481	4544085	59	11886											
CDKL5	6792	ucsc.edu;bcgsc.ca	37	chrX	18622933	18622933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttggatggaagcttgaGcatagggcaagggatggcag	19	5	0	1			TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chrX:18622933G>A	ENST00000379989.3	+	13	2174	c.1889G>A	c.(1888-1890)aGc>aAc	p.S630N	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S630N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	630					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)					GGAAGCTTGAGCATAGGGCAA	0.542																																					p.S630N		.											.	CDKL5-838	0			c.G1889A						.						181	167	172					X																	18622933		2203	4300	6503	SO:0001583	missense	6792	exon12			GCTTGAGCATAGG	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.1889G>A	X.37:g.18622933G>A	ENSP00000369325:p.Ser630Asn	Somatic	214	3		WXS	Illumina GAIIx	Phase_I	292	120	NM_003159	0	0	0	0	0	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203734	0.22121	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70749	-0.51;-0.51	5.83	2.71	0.32032	.	0.260249	0.51477	D	0.000092	T	0.48040	0.1478	N	0.08118	0	0.22446	N	0.999097	B	0.06786	0.001	B	0.06405	0.002	T	0.41070	-0.9529	10	0.45353	T	0.12	-9.4695	10.1316	0.42682	0.312:0.0:0.688:0.0	.	630	O76039	CDKL5_HUMAN	N	630	ENSP00000369332:S630N;ENSP00000369325:S630N	ENSP00000369325:S630N	S	+	2	0	CDKL5	18532854	1.000000	0.71417	0.920000	0.36463	0.975000	0.68041	2.022000	0.41030	0.627000	0.30340	-0.191000	0.12829	AGC	.		0.542	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		A	18622933	G	A	18622933	3	1	57	1	0	0	0	0	1	0	0	0	3164	971	34	3	1931	3	CDKL5	23	18622933	Missense_Mutation	SNP	G	TCGA-OR-A5LR-01A-11D-A29I-10		18622933	136647627	60	11887											
MAOA	4128	broad.mit.edu	37	chrX	43595521	43595523	+	In_Frame_Del	DEL	AAA	AAA	-													acttgctaagctacataaggAaataaggtaagaatttataa							TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chrX:43595521_43595523delAAA	ENST00000338702.3	+	10	1223_1225	c.1100_1102delAAA	c.(1099-1104)gaaata>gta	p.367_368EI>V	MAOA_ENST00000542639.1_In_Frame_Del_p.234_235EI>V	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	367					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTACATAAGGAAATAAGGTAAGA	0.345																																					p.367_368del		.											.	MAOA-194	0			c.1100_1102del						.																																			SO:0001651	inframe_deletion	4128	exon10			ATAAGGAAATAAG		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1100_1102delAAA	X.37:g.43595521_43595523delAAA	ENSP00000340684:p.Glu367_Ile368delinsVal	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	259	7	NM_000240	0	0	0	0	0	B4DF46|Q16426	In_Frame_Del	DEL	ENST00000338702.3	37	CCDS14260.1																																																																																			.		0.345	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		-	43595523	AAA	-	43595521	7	5	57	1	0	1	0	1	0	0	0	0	9263	246	9	0	1138	0	MAOA	23	43595521	In_Frame_Del	DEL	AAA	TCGA-OR-A5LR-01A-11D-A29I-10	24972588	43595521	111675039	61	11888	113	2									
MAOA	4128	broad.mit.edu;bcgsc.ca	37	chrX	43595525	43595530	+	Splice_Site	DEL	AAGGTA	AAGGTA	-													gctaagctacataaggaaatAaggtaagaatttataactga							TCGA-OR-A5LR-01A-11D-A29I-10	TCGA-OR-A5LR-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	a4944d75-a6da-45bb-b5b9-3fa3355b0ead	c2a8460f-138e-44eb-a933-a5cd6ca34d8b	g.chrX:43595525_43595530delAAGGTA	ENST00000338702.3	+	10	1227_1229	c.1104_1106delAAGGTA	c.(1102-1107)ataagg>atg	p.368_369IR>M	MAOA_ENST00000542639.1_Splice_Site_p.235_236IR>M	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	368					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	ATAAGGAAATAAGGTAAGAATTTATA	0.34																																					p.368_369del		.											.	MAOA-194	0			c.1104_1106del						.																																			SO:0001630	splice_region_variant	4128	exon10			GGAAATAAGGTAA		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1106+1AAGGTA>-	X.37:g.43595525_43595530delAAGGTA		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	244	7	NM_000240	0	0	0	0	0	B4DF46|Q16426	In_Frame_Del	DEL	ENST00000338702.3	37	CCDS14260.1																																																																																			.		0.34	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	In_Frame_Del	-	43595530	AAGGTA	-	43595525	8	5	57	1	0	1	0	1	0	0	1	0	9263	352	13	0	1142	0	MAOA	23	43595525	Splice_Site	DEL	AAGGTA	TCGA-OR-A5LR-01A-11D-A29I-10	4	43595525	111675035	62	11889	113	2									
IPP	3652	bcgsc.ca	37	chr1	46195375	46195375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgttctctttgggagatTtgcatacttcacagtactct	7	9	3	1	rs28375469	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr1:46195375T>C	ENST00000396478.3	-	4	893	c.791A>G	c.(790-792)aAa>aGa	p.K264R		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	264			K -> R (in dbSNP:rs28375469). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.			actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.K264R(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTTGGGAGATTTGCATACTTC	0.373													T|||	1577	0.314896	0.2504	0.3473	5008	,	,		15649	0.3135		0.2833	False		,,,				2504	0.4131				p.K264R		.											.	IPP-91	1	Substitution - Missense(1)	stomach(1)	c.A791G						.	T	ARG/LYS,ARG/LYS	1088,3318	393.7+/-329.0	138,812,1253	110	112	111		791,791	5.8	1	1	dbSNP_125	111	2546,6054	415.3+/-351.7	384,1778,2138	yes	missense,missense	IPP	NM_001145349.1,NM_005897.2	26,26	522,2590,3391	CC,CT,TT		29.6047,24.6936,27.941	benign,benign	264/583,264/585	46195375	3634,9372	2203	4300	6503	SO:0001583	missense	3652	exon4			GGAGATTTGCATA	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.791A>G	1.37:g.46195375T>C	ENSP00000379739:p.Lys264Arg	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_001145349	0	0	2	2	0	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	649	0.29716117216117216	130	0.26422764227642276	114	0.3149171270718232	182	0.3181818181818182	223	0.2941952506596306	T	16.43	3.121918	0.56613	0.246936	0.296047	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.74106	-0.63;-0.81	5.81	5.81	0.92471	.	0.197772	0.52532	D	0.000068	T	0.00012	0.0000	N	0.08118	0	0.20873	P	0.999833586	B;B	0.12630	0.003;0.006	B;B	0.10450	0.002;0.005	T	0.05354	-1.0890	9	0.59425	D	0.04	.	16.1671	0.81777	0.0:0.0:0.0:1.0	rs28375469;rs28375469	264;264	Q9Y573;A2A6V3	IPP_HUMAN;.	R	264	ENSP00000353024:K264R;ENSP00000379739:K264R	ENSP00000353024:K264R	K	-	2	0	IPP	45967962	1.000000	0.71417	0.994000	0.49952	0.629000	0.37895	7.623000	0.83113	2.226000	0.72624	0.459000	0.35465	AAA	T|0.709;C|0.291		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		C	46195375	T	C	46195375	3	2	58	1	0	0	0	0	1	0	0	0	7827	1841	64	4	1089	4	IPP	1	46195375	Missense_Mutation	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10		46195375	203055246	1	11890											
FLG	2312	bcgsc.ca	37	chr1	152281479	152281479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaccggctctgtcttcGtgatgggacccagggtgtct	14	12	3	2	rs3126079	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr1:152281479G>T	ENST00000368799.1	-	3	5918	c.5883C>A	c.(5881-5883)caC>caA	p.H1961Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1961	Ser-rich.		H -> Q (in dbSNP:rs3126079).		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)			CTCTGTCTTCGTGATGGGACC	0.572									Ichthyosis				-|||	2695	0.538139	0.7897	0.4683	5008	,	,		26201	0.6607		0.1759	False		,,,				2504	0.4939				p.H1961Q		.											.	FLG-106	0			c.C5883A						.	T	GLN/HIS	3032,1374	454.4+/-350.6	1056,920,227	293	278	283		5883	-4.8	0	1	dbSNP_103	283	1480,7120	749.5+/-407.4	129,1222,2949	no	missense	FLG	NM_002016.1	24	1185,2142,3176	TT,TG,GG		17.2093,31.1847,34.6917	benign	1961/4062	152281479	4512,8494	2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GTCTTCGTGATGG	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.5883C>A	1.37:g.152281479G>T	ENSP00000357789:p.His1961Gln	Somatic	409	4		WXS	Illumina GAIIx	Phase_I	246	7	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1005	0.46016483516483514	366	0.7439024390243902	142	0.39226519337016574	362	0.6328671328671329	135	0.17810026385224276	t	0.268	-0.994755	0.02145	0.688153	0.172093	ENSG00000143631	ENST00000368799	T	0.00949	5.51	2.37	-4.75	0.03239	.	.	.	.	.	T	0.00144	0.0004	N	0.12746	0.255	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40757	-0.9546	8	0.13470	T	0.59	-0.1204	2.7757	0.05347	0.1149:0.1132:0.4273:0.3447	rs3126079;rs28567722;rs35290811	1961	P20930	FILA_HUMAN	Q	1961	ENSP00000357789:H1961Q	ENSP00000357789:H1961Q	H	-	3	2	FLG	150548103	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.708000	0.00196	-3.868000	0.00097	-4.206000	0.00009	CAC	A|0.000;G|0.622;T|0.378		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281479	G	T	152281479	3	4	58	1	0	0	0	0	1	0	0	0	5944	1136	40	2	6306	2	FLG	1	152281479	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	106086104	152281479	96969142	2	11891											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_022371	0	0	0	1	1	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	58	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	26769821	179051300	70199321	3	11892											
THSD7B	80731	bcgsc.ca	37	chr2	137917922	137917922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccatgaaaactgtcatgaTcctcaggggaaaaaaggtga	10	7	2	3	rs4954474	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr2:137917922T>A	ENST00000409968.1	+	6	1687	c.1509T>A	c.(1507-1509)gaT>gaA	p.D503E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D503E|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.D472E			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	503	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.			D -> E (in Ref. 2; BAB21770). {ECO:0000305}.		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)		ACTGTCATGATCCTCAGGGGA	0.493													T|||	1413	0.282149	0.1437	0.3501	5008	,	,		20794	0.1419		0.4861	False		,,,				2504	0.3558				.		.											.	THSD7B-75	0			.						.	T	GLU/ASP	828,3282		98,632,1325	115	116	116		1416	2.2	0.9	2	dbSNP_111	116	4037,4371		975,2087,1142	yes	missense	THSD7B	NM_001080427.1	45	1073,2719,2467	AA,AT,TT		48.0138,20.146,38.864	benign	472/1578	137917922	4865,7653	2055	4204	6259	SO:0001583	missense	80731	.			TCATGATCCTCAG			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.1509T>A	2.37:g.137917922T>A	ENSP00000387145:p.Asp503Glu	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	137	7	.	0	0	2	2	0		Missense_Mutation	SNP	ENST00000409968.1	37		618	0.28296703296703296	72	0.14634146341463414	122	0.3370165745856354	67	0.11713286713286714	357	0.470976253298153	T	11.18	1.561850	0.27915	0.20146	0.480138	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61274	0.12;0.12;0.12	5.96	2.25	0.28309	.	0.229864	0.51477	N	0.000090	T	0.00012	0.0000	L	0.33245	0.995	0.09310	P	0.9999999999999558	B;B	0.10296	0.001;0.003	B;B	0.15870	0.014;0.008	T	0.47368	-0.9123	9	0.12766	T	0.61	.	5.4062	0.16323	0.0:0.2053:0.2566:0.538	rs4954474;rs17795328;rs52831925;rs4954474	503;472	Q9C0I4;C9JKN6	THS7B_HUMAN;.	E	503;503;472	ENSP00000387145:D503E;ENSP00000272643:D503E;ENSP00000413841:D472E	ENSP00000272643:D503E	D	+	3	2	THSD7B	137634392	1.000000	0.71417	0.948000	0.38648	0.552000	0.35366	1.121000	0.31283	0.147000	0.19030	0.528000	0.53228	GAT	T|0.686;A|0.314		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	137917922	T	A	137917922	3	1	58	1	0	0	0	0	1	0	0	0	15927	1432	50	5	1434	5	THSD7B	2	137917922	Missense_Mutation	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10		137917922	105281451	4	11893											
SP140	11262	broad.mit.edu	37	chr2	231174695	231174695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggagctgttctgttgCgacacttgttcaagagtctt	14	7	3	1	rs186449912	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	705					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.C705C(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)		TGTTCTGTTGCGACACTTGTT	0.512													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		21260	0		0	False		,,,				2504	0				p.C705C		.											.	SP140-90	1	Substitution - coding silent(1)	large_intestine(1)	c.C2115T						.	C		3,4367	4.2+/-10.8	0,3,2182	179	192	188		2115	-4.4	0	2		188	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous	SP140	NM_007237.4		0,7,6472	TT,TC,CC		0.0466,0.0686,0.054		705/868	231174695	7,12951	2185	4294	6479	SO:0001819	synonymous_variant	11262	exon23			CTGTTGCGACACT	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.2115C>T	2.37:g.231174695C>T		Somatic	381	0		WXS	Illumina GAIIx	Phase_I	193	5	NM_007237	0	0	11	11	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																			C|0.999;T|0.001		0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231174695	C	T	231174695	2	4	58	1	0	0	0	0	0	0	0	1	15007	776	27	1		1	SP140	2	231174695	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	93256773	231174695	12024678	5	11894											
SGEF	26084	bcgsc.ca	37	chr3	153839960	153839960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacggagggacgctccTcgcagcgcagattcccgccc	15	15	0	1	rs386667246|rs12497267	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr3:153839960T>C	ENST00000356448.4	+	2	463	c.179T>C	c.(178-180)cTc>cCc	p.L60P	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.L60P|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.L60P	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	60			L -> P (in dbSNP:rs12497267). {ECO:0000269|PubMed:15221005}.	L -> S (in Ref. 1; AAL27001, 2; AAS59842, 3; BAG53860 and 6; AAH78655). {ECO:0000305}.	endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGGACGCTCCTCGCAGCGCAG	0.667													C|||	4756	0.949681	0.9826	0.9308	5008	,	,		13135	0.9911		0.8648	False		,,,				2504	0.9632				p.L60P	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	.											.	ARHGEF26-47	0			c.T179C						.	C	PRO/LEU	3634,194		1775,84,55	14	17	16		179	3.6	0	3	dbSNP_120	16	6529,1735		3076,377,679	no	missense	ARHGEF26	NM_015595.3	98	4851,461,734	CC,CT,TT		20.9947,5.0679,15.9527	benign	60/872	153839960	10163,1929	1914	4132	6046	SO:0001583	missense	26084	exon2			CGCTCCTCGCAGC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.179T>C	3.37:g.153839960T>C	ENSP00000348828:p.Leu60Pro	Somatic	406	8		WXS	Illumina GAIIx	Phase_I	210	6	NM_001251962	0	0	1	1	0	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	1871	0.8566849816849816	462	0.9390243902439024	309	0.8535911602209945	541	0.9458041958041958	559	0.737467018469657	C	0.005	-2.221097	0.00286	0.949321	0.790053	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.55760	0.5;0.5;2.29	4.49	3.62	0.41486	.	0.550370	0.17209	N	0.182795	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32134	-0.9918	9	0.16420	T	0.52	-4.7085	10.2649	0.43449	0.0:0.8443:0.0:0.1557	rs12497267;rs60339993	60;60	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	P	60	ENSP00000348828:L60P;ENSP00000423418:L60P;ENSP00000423295:L60P	ENSP00000348828:L60P	L	+	2	0	ARHGEF26	155322650	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	0.962000	0.29280	0.346000	0.23899	-0.930000	0.02707	CTC	T|0.139;C|0.861		0.667	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		C	153839960	T	C	153839960	3	2	58	1	0	0	0	0	1	0	0	0	14250	1551	54	4	181	4	SGEF	3	153839960	Missense_Mutation	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10		153839960	44182470	6	11895											
PLCH1	23007	broad.mit.edu	37	chr3	155199167	155199167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaatatagcacttggcAgttgtcttcctggtcaaagg	10	8	2	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr3:155199167A>T	ENST00000340059.7	-	23	4671	c.4672T>A	c.(4672-4674)Tgc>Agc	p.C1558S	PLCH1_ENST00000334686.6_Missense_Mutation_p.C1520S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.C1520S|PLCH1_ENST00000414191.1_Missense_Mutation_p.C1520S|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1558					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCACTTGGCAGTTGTCTTCC	0.512																																					p.C1558S		.											.	PLCH1-151	0			c.T4672A						.						76	79	78					3																	155199167		2203	4300	6503	SO:0001583	missense	23007	exon23			CTTGGCAGTTGTC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4672T>A	3.37:g.155199167A>T	ENSP00000345988:p.Cys1558Ser	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	72	3	NM_001130960	0	0	0	0	0	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	0.559	-0.846071	0.02671	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.26	2.65	0.31530	.	0.861843	0.10735	N	0.640182	T	0.16171	0.0389	L	0.54323	1.7	0.09310	N	1	B;B	0.32467	0.372;0.255	B;B	0.27796	0.083;0.038	T	0.24333	-1.0163	10	0.26408	T	0.33	.	3.4868	0.07622	0.539:0.2641:0.0807:0.1163	.	1520;1558	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	S	1520;1558;1520;1520	ENSP00000417502:C1520S;ENSP00000345988:C1558S;ENSP00000335469:C1520S;ENSP00000412977:C1520S	ENSP00000335469:C1520S	C	-	1	0	PLCH1	156681861	0.000000	0.05858	0.606000	0.28943	0.043000	0.13939	-0.077000	0.11394	0.802000	0.34089	0.528000	0.53228	TGC	.		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		T	155199167	A	T	155199167	3	4	58	1	0	0	0	0	1	0	0	0	12076	188	7	5	413	5	PLCH1	3	155199167	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	1359207	155199167	42823263	7	11896											
KNG1	3827	broad.mit.edu;bcgsc.ca	37	chr3	186460034	186460034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccccaaaatgtcctggaCgcccctggaagtcagttagt	9	14	1	0	rs201737072		TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr3:186460034C>T	ENST00000265023.4	+	10	2061	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	617					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ATGTCCTGGACGCCCCTGGAA	0.408													C|||	1	0.000199681	0	0	5008	,	,		21142	0		0.001	False		,,,				2504	0				p.R617C		.											.	KNG1-92	0			c.C1849T						.						108	103	105					3																	186460034		1837	4089	5926	SO:0001583	missense	3827	exon10			CCTGGACGCCCCT		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1849C>T	3.37:g.186460034C>T	ENSP00000265023:p.Arg617Cys	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	51	5	NM_001102416	0	0	0	0	0	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.4	3.983327	0.74474	.	.	ENSG00000113889	ENST00000265023	T	0.19394	2.15	5.28	5.28	0.74379	.	0.483186	0.18033	N	0.153878	T	0.37625	0.1010	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.01349	-1.1378	9	.	.	.	-10.2697	14.7871	0.69810	0.0:1.0:0.0:0.0	.	617	P01042	KNG1_HUMAN	C	617	ENSP00000265023:R617C	.	R	+	1	0	KNG1	187942728	0.518000	0.26234	0.991000	0.47740	0.874000	0.50279	0.709000	0.25734	2.652000	0.90054	0.563000	0.77884	CGC	C|0.999;T|0.000		0.408	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186460034	C	T	186460034	3	4	58	1	0	0	0	0	1	0	0	0	8454	536	19	1	1887	1	KNG1	3	186460034	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	31260867	186460034	11562396	8	11897											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-													tcgagtccctcaagtccttcCagcagcagcagcagcagcag					rs71180116|rs374076986	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	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)		CAAGTCCTTCcagcagcagcagcagc	0.704														1892	0.377796	0.0741	0.3343	5008	,	,		6929	0.7421		0.327	False		,,,				2504	0.4959				p.18_19del		.											.	HTT-281	0			c.52_57del						.			33,28,149		16,0,1,14,0,74						2.6	1		dbSNP_119	4	239,82,669		114,3,8,38,3,329	no	codingComplex	HTT	NM_002111.6		130,3,9,52,3,403	A1A1,A1A2,A1R,A2A2,A2R,RR		32.4242,29.0476,31.8333				272,110,818				SO:0001651	inframe_deletion	3064	exon1			TCCTTCCAGCAGC	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.52_57delCAGCAG	4.37:g.3076610_3076615delCAGCAG	ENSP00000347184:p.Gln36_Gln37del	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	16	5	NM_002111	0	0	0	0	0	Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																			.		0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		-	3076609	CAGCAG	-	3076604	7	5	58	1	0	1	0	1	0	0	0	0	7484	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-P6-A5OF-01A-11D-A29I-10		3076604	188077672	9	11898											
NMU	10874	hgsc.bcm.edu	37	chr4	56502304	56502304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggagcggggacGccgcggccacctgtccggcg	18	15	0	0	rs35771241	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr4:56502304G>T	ENST00000264218.3	-	1	161	c.56C>A	c.(55-57)gCg>gAg	p.A19E	NMU_ENST00000515325.1_Intron|NMU_ENST00000507338.1_Missense_Mutation_p.A19E|NMU_ENST00000511469.1_Missense_Mutation_p.A19E|NMU_ENST00000505262.1_Missense_Mutation_p.A19E	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	19					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		gagcGGGGACGCCGCGGCCAC	0.761													G|||	88	0.0175719	0.0038	0.0245	5008	,	,		10083	0		0.0577	False		,,,				2504	0.0082				p.A19E		.											.	NMU-650	0			c.C56A	GRCh37	CM066152	NMU	M	rs35771241	.	G	GLU/ALA	34,3224		0,34,1595	5	7	6		56	1.1	0	4	dbSNP_126	6	262,5824		1,260,2782	no	missense	NMU	NM_006681.2	107	1,294,4377	TT,TG,GG		4.305,1.0436,3.1678	benign	19/175	56502304	296,9048	1629	3043	4672	SO:0001583	missense	10874	exon1			GGGGACGCCGCGG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"Endogenous ligands"	7859	protein-coding gene	gene with protein product	"prepro-NMU"	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.56C>A	4.37:g.56502304G>T	ENSP00000264218:p.Ala19Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_006681	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	6	0.012195121951219513	16	0.04419889502762431	0	0.0	42	0.055408970976253295	G	14.57	2.576146	0.45902	0.010436	0.04305	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.38887	1.11;1.25;1.19;1.18	2.89	1.06	0.20224	.	0.337479	0.19087	U	0.123078	T	0.03959	0.0111	L	0.44542	1.39	0.09310	N	1	D	0.54397	0.966	P	0.45195	0.473	T	0.03784	-1.1004	10	0.52906	T	0.07	-8.0688	3.8411	0.08914	0.1476:0.2562:0.5962:0.0	rs35771241	19	P48645	NMU_HUMAN	E	19	ENSP00000422399:A19E;ENSP00000264218:A19E;ENSP00000424246:A19E;ENSP00000422870:A19E	ENSP00000264218:A19E	A	-	2	0	NMU	56197061	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.032000	0.12266	0.255000	0.21593	0.195000	0.17529	GCG	G|0.970;T|0.030		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			T	56502304	G	T	56502304	3	4	58	1	0	0	0	0	1	0	0	0	10544	1087	38	2	504	2	NMU	4	56502304	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	53425700	56502304	134651972	10	11899											
MAB21L2	10586	broad.mit.edu;bcgsc.ca	37	chr4	151504413	151504413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgaatttgaggtggtgCtctacctaaaccagatgggc	11	11	1	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr4:151504413C>T	ENST00000317605.4	+	1	1337	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	78					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGAGGTGGTGCTCTACCTAAA	0.607																																					p.L78F		.											.	MAB21L2-91	0			c.C232T						.						82	74	77					4																	151504413		2203	4300	6503	SO:0001583	missense	10586	exon1			GTGGTGCTCTACC	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.232C>T	4.37:g.151504413C>T	ENSP00000324701:p.Leu78Phe	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	142	6	NM_006439	0	0	0	0	0	B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953194	0.73902	.	.	ENSG00000181541	ENST00000317605	T	0.07688	3.17	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.32912	0.0845	M	0.80982	2.52	0.58432	D	0.999999	D	0.67145	0.996	D	0.71870	0.975	T	0.00647	-1.1628	10	0.37606	T	0.19	-18.274	20.2985	0.98592	0.0:1.0:0.0:0.0	.	78	Q9Y586	MB212_HUMAN	F	78	ENSP00000324701:L78F	ENSP00000324701:L78F	L	+	1	0	MAB21L2	151723863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.793000	0.96121	0.655000	0.94253	CTC	.		0.607	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		T	151504413	C	T	151504413	3	4	58	1	0	0	0	0	1	0	0	0	9178	797	28	3	234	3	MAB21L2	4	151504413	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	95002109	151504413	39649863	11	11900											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001047	0	0	0	4	4	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	58	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		6633779	174281481	12	11901											
PCDHAC1	56135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140307778	140307778	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgaaggacaatcactgtgtCagttgctgatgtgaatgaca	11	8	2	3			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr5:140307778C>T	ENST00000253807.2	+	1	1301	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S434L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	434	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(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGTGTCAGTTGCTGAT	0.542																																					p.S434L		.											.	PCDHAC1-28	0			c.C1301T						.						78	78	78					5																	140307778		2203	4300	6503	SO:0001583	missense	56135	exon1			CTGTGTCAGTTGC	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1301C>T	5.37:g.140307778C>T	ENSP00000253807:p.Ser434Leu	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	108	49	NM_031882	0	0	0	1	1	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076286	0.20227	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01821	4.62;4.62	5.54	0.683	0.17998	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.20483	0.58	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.19148	0.024;0.003	T	0.47071	-0.9145	9	0.52906	T	0.07	.	4.588	0.12291	0.3078:0.4075:0.0:0.2847	.	434;434	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	434	ENSP00000386356:S434L;ENSP00000253807:S434L	ENSP00000253807:S434L	S	+	2	0	PCDHAC1	140287962	0.000000	0.05858	0.097000	0.21041	0.975000	0.68041	-0.746000	0.04829	0.006000	0.14734	0.462000	0.41574	TCA	.		0.542	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		T	140307778	C	T	140307778	3	4	58	1	0	0	0	0	1	0	0	0	11571	838	29	3	1303	3	PCDHAC1	5	140307778	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	133673999	140307778	40607482	13	11902											
HAVCR1	26762	broad.mit.edu	37	chr5	156482501	156482501	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggtagtgtgacagaTggacctgcctctccaccaac	12	12	1	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr5:156482501T>G	ENST00000339252.3	-	2	622	c.90A>C	c.(88-90)ccA>ccC	p.P30P	HAVCR1_ENST00000523175.1_Silent_p.P30P|HAVCR1_ENST00000522693.1_Silent_p.P30P|HAVCR1_ENST00000425854.1_Silent_p.P30P|HAVCR1_ENST00000544197.1_Silent_p.P30P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGTGACAGATGGACCTGCCT	0.473																																					p.P30P		.											.	HAVCR1-92	0			c.A90C						.						48	51	50					5																	156482501		1955	4153	6108	SO:0001819	synonymous_variant	26762	exon3			GACAGATGGACCT	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.90A>C	5.37:g.156482501T>G		Somatic	254	4		WXS	Illumina GAIIx	Phase_I	234	8	NM_001099414	0	0	0	0	0	O43656	Silent	SNP	ENST00000339252.3	37	CCDS43392.1																																																																																			.		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			G	156482501	T	G	156482501	2	3	58	1	0	0	0	0	0	0	0	1	7000	1451	51	5		5	HAVCR1	5	156482501	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	16174723	156482501	24432759	14	11903											
AGXT2L2	85007	hgsc.bcm.edu	37	chr5	177659519	177659519	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccgttgcctcagggccagCgtgtcggccttcgggcgctg	16	14	1	0	rs116735771	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr5:177659519C>G	ENST00000308158.5	-	1	267	c.33G>C	c.(31-33)acG>acC	p.T11T	PHYKPL_ENST00000481811.1_5'Flank|PHYKPL_ENST00000476170.2_Silent_p.T11T	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	11						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TCAGGGCCAGCGTGTCGGCCT	0.776													G|||	765	0.152756	0.3419	0.0663	5008	,	,		8862	0.1052		0.0755	False		,,,				2504	0.0869				p.T11T		.											.	AGXT2L2-91	0			c.G33C						.	G		758,2778		67,624,1077	3	3	3		33	-4.8	0.9	5	dbSNP_132	3	393,6805		10,373,3216	no	coding-synonymous	AGXT2L2	NM_153373.2		77,997,4293	GG,GC,CC		5.4598,21.4367,10.7229		11/451	177659519	1151,9583	1768	3599	5367	SO:0001819	synonymous_variant	85007	exon1			GGCCAGCGTGTCG	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.33G>C	5.37:g.177659519C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_153373	0	0	6	14	8	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	CCDS4434.1																																																																																			C|0.854;G|0.146		0.776	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		G	177659519	C	G	177659519	2	3	58	1	0	0	0	0	0	0	0	1	407	755	27	2		2	AGXT2L2	5	177659519	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	21177018	177659519	3255741	15	11904											
SAMD5	389432	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	147830225	147830225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccgcgcaccgccgccGtatcctggaggccgtgcgcc	15	19	0	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr6:147830225G>A	ENST00000367474.1	+	1	163	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	54	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		CACCGCCGCCGTATCCTGGAG	0.731																																					p.R54H		.											.	SAMD5-68	0			c.G161A						.						9	11	10					6																	147830225		2088	4119	6207	SO:0001583	missense	389432	exon1			GCCGCCGTATCCT	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.161G>A	6.37:g.147830225G>A	ENSP00000356444:p.Arg54His	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	40	7	NM_001030060	0	0	0	0	0		Missense_Mutation	SNP	ENST00000367474.1	37	CCDS34548.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680166	0.88542	.	.	ENSG00000203727	ENST00000367474	T	0.55052	0.54	3.95	3.95	0.45737	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.061993	0.64402	D	0.000005	T	0.71978	0.3404	M	0.92604	3.325	0.37407	D	0.913108	D	0.89917	1.0	D	0.70935	0.971	T	0.81226	-0.1029	10	0.87932	D	0	-7.4586	13.7698	0.63018	0.0:0.0:1.0:0.0	.	54	Q5TGI4	SAMD5_HUMAN	H	54	ENSP00000356444:R54H	ENSP00000356444:R54H	R	+	2	0	SAMD5	147871918	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.038000	0.57318	1.739000	0.51704	0.460000	0.39030	CGT	.		0.731	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		A	147830225	G	A	147830225	3	1	58	1	0	0	0	0	1	0	0	0	13868	1145	40	1	163	1	SAMD5	6	147830225	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		147830225	23284842	16	11905											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000596229.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|LRP11_ENST00000546019.1_Intron|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_032832	0	0	0	0	0	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	58	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	2354657	150184882	20930185	17	11906											
TWISTNB	221830	hgsc.bcm.edu;bcgsc.ca	37	chr7	19748559	19748560	+	Frame_Shift_Ins	INS	-	-	T													aagtcggcaactctaggcaaINSggcaggacgccagcctgccc							TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr7:19748559_19748560insT	ENST00000222567.5	-	1	150_151	c.80_81insA	c.(79-81)cctfs	p.P27fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	27					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACTCTAGGCAAGGCAGGACGCC	0.649											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P27fs		.											.	TWISTNB-91	0			c.81_82insA						.																																			SO:0001589	frameshift_variant	221830	exon1			TAGGCAAGGCAGG	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.80_81insA	7.37:g.19748559_19748560insT	ENSP00000222567:p.Pro27fs	Somatic	106	0	735	WXS	Illumina GAIIx	Phase_I	74	12	NM_001002926	0	0	0	0	0	A0PJ45|B7Z724	Frame_Shift_Ins	INS	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.649	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			T	19748560	-	T	19748559	7	5	58	1	0	1	1	0	0	0	0	0	16833	59	3	0	951	0	TWISTNB	7	19748559	Frame_Shift_Ins	INS	-	TCGA-P6-A5OF-01A-11D-A29I-10		19748559	139390104	18	11907	114	3									
TWISTNB	221830	hgsc.bcm.edu	37	chr7	19748560	19748582	+	Frame_Shift_Del	DEL	GGCAGGACGCCAGCCTGCCCTAC	GGCAGGACGCCAGCCTGCCCTAC	-													aagtcggcaactctaggcaaGgcaggacgccagcctgccct					rs150063001|rs140370583	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	GGCAGGACGCCAGCCTGCCCTAC	GGCAGGACGCCAGCCTGCCCTAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr7:19748560_19748582delGGCAGGACGCCAGCCTGCCCTAC	ENST00000222567.5	-	1	128_150	c.58_80delGTAGGGCAGGCTGGCGTCCTGCC	c.(58-81)gtagggcaggctggcgtcctgcctfs	p.VGQAGVLP20fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	20					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTCTAGGCAAGGCAGGACGCCAGCCTGCCCTACCAGAGACCCA	0.659											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.20_27del		.											.	TWISTNB-91	0			c.58_80del						.																																			SO:0001589	frameshift_variant	221830	exon1			AGGCAAGGCAGGA	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.58_80delGTAGGGCAGGCTGGCGTCCTGCC	7.37:g.19748560_19748582delGGCAGGACGCCAGCCTGCCCTAC	ENSP00000222567:p.Val20fs	Somatic	106	0	735	WXS	Illumina GAIIx	Phase_I	74	0	NM_001002926	0	0	0	0	0	A0PJ45|B7Z724	Frame_Shift_Del	DEL	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.659	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			-	19748582	GGCAGGACGCCAGCCTGCCCTAC	-	19748560	7	5	58	1	0	1	0	1	0	0	0	0	16833	1000	35	0	952	0	TWISTNB	7	19748560	Frame_Shift_Del	DEL	GGCAGGACGCCAGCCTGCCCTAC	TCGA-P6-A5OF-01A-11D-A29I-10	1	19748560	139390103	19	11908	114	3									
TWISTNB	221830	bcgsc.ca	37	chr7	19748562	19748582	+	In_Frame_Del	DEL	CAGGACGCCAGCCTGCCCTAC	CAGGACGCCAGCCTGCCCTAC	-													gtcggcaactctaggcaaggCaggacgccagcctgccctac					rs150063001|rs140370583	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	CAGGACGCCAGCCTGCCCTAC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr7:19748562_19748582delCAGGACGCCAGCCTGCCCTAC	ENST00000222567.5	-	1	128_148	c.58_78delGTAGGGCAGGCTGGCGTCCTG	c.(58-78)gtagggcaggctggcgtcctgdel	p.VGQAGVL20del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	20					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTAGGCAAGGCAGGACGCCAGCCTGCCCTACCAGAGACCCA	0.656											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.20_26del		.											.	TWISTNB-91	0			c.58_78del						.																																			SO:0001651	inframe_deletion	221830	exon1			GCAAGGCAGGACG	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.58_78delGTAGGGCAGGCTGGCGTCCTG	7.37:g.19748562_19748582delCAGGACGCCAGCCTGCCCTAC	ENSP00000222567:p.Val20_Leu26del	Somatic	104	0	735	WXS	Illumina GAIIx	Phase_I	72	4	NM_001002926	0	0	0	0	0	A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.656	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			-	19748582	CAGGACGCCAGCCTGCCCTAC	-	19748562	7	5	58	1	0	1	0	1	0	0	0	0	16833	697	25	0	954	0	TWISTNB	7	19748562	In_Frame_Del	DEL	CAGGACGCCAGCCTGCCCTAC	TCGA-P6-A5OF-01A-11D-A29I-10	2	19748562	139390101	20	11909	114	3									
GPR141	353345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	37780431	37780431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacgctggtgattgtcAttgtggtacccctggttgtc	14	8	1	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr7:37780431A>T	ENST00000447769.1	+	4	725	c.436A>T	c.(436-438)Att>Ttt	p.I146F	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I146F|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGATTGTCATTGTGGTACC	0.448																																					p.I146F		.											.	GPR141-93	0			c.A436T						.						153	147	149					7																	37780431		2203	4300	6503	SO:0001583	missense	353345	exon1			ATTGTCATTGTGG	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.436A>T	7.37:g.37780431A>T	ENSP00000390410:p.Ile146Phe	Somatic	199	0		WXS	Illumina GAIIx	Phase_I	161	61	NM_181791	0	0	0	0	0	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309230	0.23821	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.73897	-0.79;-0.79	4.56	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.485095	0.20937	N	0.082994	T	0.61689	0.2367	L	0.45137	1.4	0.28487	N	0.914655	B	0.17038	0.02	B	0.19946	0.027	T	0.51513	-0.8696	10	0.30078	T	0.28	-14.5284	5.0929	0.14718	0.748:0.0:0.089:0.163	.	146	Q7Z602	GP141_HUMAN	F	146	ENSP00000390410:I146F;ENSP00000334540:I146F	ENSP00000334540:I146F	I	+	1	0	GPR141	37746956	0.474000	0.25886	0.736000	0.30914	0.711000	0.40976	1.117000	0.31234	0.849000	0.35215	0.533000	0.62120	ATT	.		0.448	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		T	37780431	A	T	37780431	3	4	58	1	0	0	0	0	1	0	0	0	6675	217	8	5	438	5	GPR141	7	37780431	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	18031869	37780431	121358232	21	11910											
RAMP3	10268	hgsc.bcm.edu	37	chr7	45197433	45197433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcggccggccagccatggaGactggagcgctgcggcgccc	17	15	0	1	rs67477213	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000481345.1_Silent_p.E2E|RAMP3_ENST00000496212.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					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)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3	3	3		6	2	0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	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.6G>A	7.37:g.45197433G>A		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	9	9	NM_005856	0	0	9	19	10	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		A	45197433	G	A	45197433	2	1	58	1	0	0	0	0	0	0	0	1	13068	933	33	3		3	RAMP3	7	45197433	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	7417002	45197433	113941230	22	11911											
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	61769317	61769317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcctttcgcgcacacCcacaaggcatctccttaatg	8	15	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr8:61769317C>G	ENST00000423902.2	+	34	7957	c.7478C>G	c.(7477-7479)cCc>cGc	p.P2493R	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2493					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)			TCGCGCACACCCACAAGGCAT	0.493																																					p.P2493R		.											.	CHD7-141	0			c.C7478G						.						143	140	141					8																	61769317		1950	4154	6104	SO:0001583	missense	55636	exon34			GCACACCCACAAG	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.7478C>G	8.37:g.61769317C>G	ENSP00000392028:p.Pro2493Arg	Somatic	229	0		WXS	Illumina GAIIx	Phase_I	224	125	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432311	0.62844	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.81659	-1.52	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	L	0.29908	0.895	0.43924	D	0.99657	P	0.38978	0.652	B	0.35813	0.211	T	0.75494	-0.3298	10	0.49607	T	0.09	-13.9639	18.6309	0.91359	0.0:1.0:0.0:0.0	.	2493	Q9P2D1	CHD7_HUMAN	R	2493	ENSP00000392028:P2493R	ENSP00000307304:P2493R	P	+	2	0	CHD7	61931871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.518000	0.73764	2.630000	0.89119	0.563000	0.77884	CCC	.		0.493	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61769317	C	G	61769317	3	3	58	1	0	0	0	0	1	0	0	0	3337	623	22	3	7608	3	CHD7	8	61769317	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		61769317	84594705	23	11912											
TSNARE1	203062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	143427201	143427201	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcagcttgctctctggCgacgggcaggggaaatggcg	16	10	2	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr8:143427201C>A	ENST00000307180.3	-	3	258	c.141G>T	c.(139-141)tcG>tcT	p.S47S	TSNARE1_ENST00000524325.1_Silent_p.S47S|TSNARE1_ENST00000520166.1_Silent_p.S47S|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	47					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)					TGCTCTCTGGCGACGGGCAGG	0.607																																					p.S47S		.											.	TSNARE1-90	0			c.G141T						.						123	101	108					8																	143427201		2203	4300	6503	SO:0001819	synonymous_variant	203062	exon3			CTCTGGCGACGGG			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.141G>T	8.37:g.143427201C>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	145	57	NM_145003	0	0	6	12	6	B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	CCDS6384.1																																																																																			.		0.607	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143427201	C	A	143427201	2	1	58	1	0	0	0	0	0	0	0	1	16678	755	27	2		2	TSNARE1	8	143427201	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	81657884	143427201	2936821	24	11913											
SCRIB	23513	hgsc.bcm.edu	37	chr8	144874554	144874554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgccacctcccaggggTgggggggacgccgggctctg	21	13	1	0	rs6991873	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Silent_p.P1369P|SCRIB_ENST00000356994.2_Silent_p.P1450P|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					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)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1		0.998	False		,,,				2504	1				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3	4	4		4350,4350	-2.9	0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	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.4350A>G	8.37:g.144874554T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_015356	0	0	0	27	27	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		C	144874554	T	C	144874554	2	2	58	1	0	0	0	0	0	0	0	1	13982	1683	59	4		4	SCRIB	8	144874554	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	1447353	144874554	1489468	25	11914											
SLC24A2	25769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	19786455	19786455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcattccaatgacatgcAgaatgatcgcaccttttctt	6	10	2	4			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr9:19786455A>G	ENST00000341998.2	-	1	471	c.410T>C	c.(409-411)cTg>cCg	p.L137P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L137P	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	137					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)		AATGACATGCAGAATGATCGC	0.438																																					p.L137P		.											.	SLC24A2-517	0			c.T410C						.						104	98	100					9																	19786455		2203	4300	6503	SO:0001583	missense	25769	exon1			ACATGCAGAATGA	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.410T>C	9.37:g.19786455A>G	ENSP00000344801:p.Leu137Pro	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	53	9	NM_001193288	0	0	0	0	0	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781174	0.70222	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	D;T	0.81499	-1.5;-1.48	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89774	0.3956	9	.	.	.	.	16.0738	0.80955	1.0:0.0:0.0:0.0	.	137;137	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	137	ENSP00000344801:L137P;ENSP00000286344:L137P	.	L	-	2	0	SLC24A2	19776455	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.335000	0.96500	2.192000	0.70111	0.533000	0.62120	CTG	.		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		G	19786455	A	G	19786455	3	3	58	1	0	0	0	0	1	0	0	0	14511	188	7	4	1615	4	SLC24A2	9	19786455	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10		19786455	121426976	26	11915											
CCDC107	203260	bcgsc.ca	37	chr9	35660990	35660990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggaggacgaggaggagAttggtgacagtcaggcctgg	18	5	1	2	rs1339374	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr9:35660990A>G	ENST00000426546.2	+	5	724	c.658A>G	c.(658-660)Att>Gtt	p.I220V	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.I193V|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|RMRP_ENST00000602361.1_lincRNA	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	220			I -> V (in dbSNP:rs1339374). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGGAGGAGATTGGTGACAG	0.552													G|||	4073	0.813299	0.5968	0.8703	5008	,	,		20167	0.9782		0.8181	False		,,,				2504	0.8906				p.I220V		.											.	CCDC107-90	0			c.A658G						.	G	VAL/ILE,,,,VAL/ILE	2784,1622	495.0+/-363.1	903,978,322	89	88	88		577,,,,658	1.2	0.4	9	dbSNP_88	88	6870,1730	313.7+/-311.4	2729,1412,159	yes	missense,utr-3,utr-3,utr-3,missense	C9orf100,CCDC107	NM_001195200.1,NM_001195201.1,NM_001195217.1,NM_032818.2,NM_174923.2	29,,,,29	3632,2390,481	GG,GA,AA		20.1163,36.8134,25.7727	benign,,,,benign	193/257,,,,220/284	35660990	9654,3352	2203	4300	6503	SO:0001583	missense	203260	exon5			GAGGAGATTGGTG	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.658A>G	9.37:g.35660990A>G	ENSP00000414964:p.Ile220Val	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	128	5	NM_174923	0	0	215	215	0	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	CCDS6583.1	1809	0.8282967032967034	317	0.6443089430894309	308	0.850828729281768	566	0.9895104895104895	618	0.8153034300791556	G	0.008	-1.863490	0.00552	0.631866	0.798837	ENSG00000159884	ENST00000426546;ENST00000378409	T;T	0.30448	1.95;1.53	5.08	1.22	0.21188	.	0.730594	0.12230	N	0.487558	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40232	-0.9574	9	0.02654	T	1	1.2077	7.7533	0.28909	0.4372:0.0:0.5628:0.0	rs1339374;rs17856574;rs52795236;rs59175010;rs1339374	193;220	F8W8S5;Q8WV48	.;CC107_HUMAN	V	220;193	ENSP00000414964:I220V;ENSP00000367665:I193V	ENSP00000367665:I193V	I	+	1	0	CCDC107	35650990	0.069000	0.21087	0.364000	0.25888	0.018000	0.09664	-0.106000	0.10890	-0.128000	0.11641	-1.201000	0.01664	ATT	A|0.226;G|0.774		0.552	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		G	35660990	A	G	35660990	3	3	58	1	0	0	0	0	1	0	0	0	2749	333	12	4	676	4	CCDC107	9	35660990	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	15874535	35660990	105552441	27	11916											
BICD2	23299	broad.mit.edu	37	chr9	95526977	95526977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcagccactccggctgcGcctccatcaccagccgcgcg	11	21	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr9:95526977G>T	ENST00000375512.3	-	1	117	c.50C>A	c.(49-51)gCg>gAg	p.A17E	BICD2_ENST00000356884.6_Missense_Mutation_p.A17E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	17					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCGGCTGCGCCTCCATCAC	0.731																																					p.A17E		.											.	BICD2-226	0			c.C50A						.						9	10	9					9																	95526977		2068	4116	6184	SO:0001583	missense	23299	exon1			GGCTGCGCCTCCA	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.50C>A	9.37:g.95526977G>T	ENSP00000364662:p.Ala17Glu	Somatic	37	3		WXS	Illumina GAIIx	Phase_I	61	12	NM_001003800	0	0	19	20	1	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	.	16.77	3.215213	0.58452	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44881	0.91;0.92	4.35	4.35	0.52113	.	0.211686	0.38548	N	0.001654	T	0.42539	0.1207	L	0.34521	1.04	0.43512	D	0.995772	D;P	0.55800	0.973;0.954	P;P	0.53360	0.724;0.534	T	0.10660	-1.0620	10	0.17832	T	0.49	-38.5328	15.1518	0.72706	0.0:0.0:1.0:0.0	.	17;17	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	17	ENSP00000349351:A17E;ENSP00000364662:A17E	ENSP00000349351:A17E	A	-	2	0	BICD2	94566798	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.700000	0.91322	2.349000	0.79799	0.195000	0.17529	GCG	.		0.731	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		T	95526977	G	T	95526977	3	4	58	1	0	0	0	0	1	0	0	0	1431	1087	38	2	2555	2	BICD2	9	95526977	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	59865987	95526977	45686454	28	11917											
MAP3K8	1326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	30740635	30740635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctaagtgttcaaatgaccGaagatgtctattttcctaag	8	8	2	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr10:30740635G>A	ENST00000263056.1	+	6	1531	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	MAP3K8_ENST00000375321.1_Missense_Mutation_p.E279K|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E279K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	279	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)				TCAAATGACCGAAGATGTCTA	0.323																																					p.E279K		.											.	MAP3K8-981	0			c.G835A						.						81	82	82					10																	30740635		2203	4300	6503	SO:0001583	missense	1326	exon5			ATGACCGAAGATG	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.835G>A	10.37:g.30740635G>A	ENSP00000263056:p.Glu279Lys	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	79	7	NM_001244134	0	0	2	2	0	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962937	0.74016	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.64618	-0.11;-0.11;-0.11	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094359	0.64402	D	0.000001	T	0.60392	0.2265	L	0.33293	1	0.58432	D	0.999998	D	0.56035	0.974	P	0.46389	0.515	T	0.63545	-0.6613	10	0.54805	T	0.06	.	19.538	0.95262	0.0:0.0:1.0:0.0	.	279	P41279	M3K8_HUMAN	K	279	ENSP00000263056:E279K;ENSP00000443610:E279K;ENSP00000364470:E279K	ENSP00000263056:E279K	E	+	1	0	MAP3K8	30780641	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.074000	0.93998	2.596000	0.87737	0.467000	0.42956	GAA	.		0.323	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		A	30740635	G	A	30740635	3	1	58	1	0	0	0	0	1	0	0	0	9294	1059	37	1	849	1	MAP3K8	10	30740635	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		30740635	104794112	29	11918											
ZCCHC24	219654	hgsc.bcm.edu	37	chr10	81205023	81205023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccagctgctcggggcgGcccttgccgaaggccagctc	15	16	0	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr10:81205023G>A	ENST00000372336.3	-	1	360	c.174C>T	c.(172-174)ggC>ggT	p.G58G	ZCCHC24_ENST00000372333.3_5'Flank	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	58							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCTCGGGGCGGCCCTTGCCGA	0.736																																					p.G58G		.											.	ZCCHC24-153	0			c.C174T						.						3	4	3					10																	81205023		1694	3361	5055	SO:0001819	synonymous_variant	219654	exon1			GGGGCGGCCCTTG	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.174C>T	10.37:g.81205023G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	18	12	NM_153367	0	0	6	6	0	Q5U5T9|Q8TAG0	Silent	SNP	ENST00000372336.3	37	CCDS7359.1																																																																																			.		0.736	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		A	81205023	G	A	81205023	2	1	58	1	0	0	0	0	0	0	0	1	17636	1190	42	3		3	ZCCHC24	10	81205023	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	50464388	81205023	54329724	30	11919											
KRTAP5-3	387266	bcgsc.ca	37	chr11	1628992	1628992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcaggatgacccacaGcctgaggagcagcagcaggg	16	11	0	2	rs60210378	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:1628992G>A	ENST00000399685.1	-	1	701	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	208	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		atgacccacagcctgaggagc	0.617													g|||	2309	0.461062	0.4939	0.4467	5008	,	,		17035	0.3879		0.5239	False		,,,				2504	0.4376				p.G208G		.											.	KRTAP5-3-92	0			c.C624T						.						111	121	118					11																	1628992		2201	4295	6496	SO:0001819	synonymous_variant	387266	exon1			CCCACAGCCTGAG	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.624C>T	11.37:g.1628992G>A		Somatic	212	2		WXS	Illumina GAIIx	Phase_I	130	6	NM_001012708	0	0	0	0	0	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																			G|0.562;A|0.438		0.617	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1628992	G	A	1628992	2	1	58	1	0	0	0	0	0	0	0	1	8590	958	34	3		3	KRTAP5-3	11	1628992	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		1628992	133377524	31	11920											
NRXN2	9379	hgsc.bcm.edu	37	chr11	64480641	64480641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaggttggccaagagGccgcggaagggcggctcgta	17	10	1	1	rs2518907	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:64480641G>A	ENST00000377551.1	-	1	742	c.531C>T	c.(529-531)ggC>ggT	p.G177G	NRXN2_ENST00000377559.3_Silent_p.G177G|NRXN2_ENST00000409571.1_Silent_p.G177G|NRXN2_ENST00000265459.6_Silent_p.G177G			Q9P2S2	NRX2A_HUMAN	neurexin 2	177	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGCCAAGAGGCCGCGGAAGG	0.756													G|||	2672	0.533546	0.2216	0.5403	5008	,	,		8112	0.5407		0.7604	False		,,,				2504	0.7096				p.G177G		.											.	NRXN2-232	0			c.C531T						.	G	,	1316,1684		331,654,515	2	2	2		531,531	1.3	1	11	dbSNP_100	2	4949,1205		2080,789,208	no	coding-synonymous,coding-synonymous	NRXN2	NM_015080.3,NM_138732.2	,	2411,1443,723	AA,AG,GG		19.5808,43.8667,31.56	,	177/1713,177/1643	64480641	6265,2889	1500	3077	4577	SO:0001819	synonymous_variant	9379	exon2			CAAGAGGCCGCGG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.531C>T	11.37:g.64480641G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_138732	0	0	0	0	0	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			G|0.449;A|0.551		0.756	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64480641	G	A	64480641	2	1	58	1	0	0	0	0	0	0	0	1	10705	1190	42	3		3	NRXN2	11	64480641	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	62851649	64480641	70525875	32	11921											
MEN1	4221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64574681	64574681	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaggtcatagagcagcCagagcagcttctaggagccg	13	12	2	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:64574681C>T	ENST00000337652.1	-	5	1312	c.809G>A	c.(808-810)tGg>tAg	p.W270*	MEN1_ENST00000377313.1_Nonsense_Mutation_p.W270*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.W265*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.W230*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.W265*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.W265*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.W265*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.W270*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000443283.1_Nonsense_Mutation_p.W270*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.W270*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	270	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.K262_Y268del(1)|p.W265fs*16(1)|p.W265_L267del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATAGAGCAGCCAGAGCAGCTT	0.597			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.W270X	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	3	Deletion - In frame(2)|Deletion - Frameshift(1)	parathyroid(2)|gastrointestinal_tract_(site_indeterminate)(1)	c.G809A	GRCh37	CM970930	MEN1	M		.						39	43	42					11																	64574681		2201	4297	6498	SO:0001587	stop_gained	4221	exon5	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	AGCAGCCAGAGCA	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.809G>A	11.37:g.64574681C>T	ENSP00000337088:p.Trp270*	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	23	14	NM_130800	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	37	5.982488	0.97173	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3926	14.8396	0.70214	0.0:1.0:0.0:0.0	.	.	.	.	X	265;230;265;265;265;270;270;270;270;270;265;265	.	ENSP00000308975:W265X	W	-	2	0	MEN1	64331257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.579000	0.60936	2.158000	0.67659	0.462000	0.41574	TGG	.		0.597	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			T	64574681	C	T	64574681	4	4	58	1	0	0	0	0	0	1	0	0	9510	595	21	3	1062	3	MEN1	11	64574681	Nonsense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	94040	64574681	70431835	33	11922											
DNAJB13	374407	bcgsc.ca	37	chr11	73681135	73681135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccccagaagaagcagatGctgcgccaggcattgctgac	11	13	0	4	rs72982975	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:73681135G>A	ENST00000339764.1	+	8	1678	c.927G>A	c.(925-927)atG>atA	p.M309I	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.M134I|DNAJB13_ENST00000537753.1_Missense_Mutation_p.M134I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	309					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AGAAGCAGATGCTGCGCCAGG	0.622													g|||	1119	0.223442	0.1929	0.3473	5008	,	,		18231	0.1637		0.2575	False		,,,				2504	0.2035				p.M309I		.											.	DNAJB13-90	0			c.G927A						.	G	ILE/MET	879,3521	342.8+/-307.3	76,727,1397	117	108	111		927	4.6	1	11	dbSNP_130	111	2234,6352	378.8+/-339.0	280,1674,2339	yes	missense	DNAJB13	NM_153614.2	10	356,2401,3736	AA,AG,GG		26.0191,19.9773,23.972	benign	309/317	73681135	3113,9873	2200	4293	6493	SO:0001583	missense	374407	exon8			GCAGATGCTGCGC	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.927G>A	11.37:g.73681135G>A	ENSP00000344431:p.Met309Ile	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	57	5	NM_153614	0	0	0	0	0	B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	CCDS8227.1	521|521	0.23855311355311357|0.23855311355311357	104|104	0.21138211382113822|0.21138211382113822	118|118	0.3259668508287293|0.3259668508287293	94|94	0.16433566433566432|0.16433566433566432	205|205	0.2704485488126649|0.2704485488126649	G|G	16.13|16.13	3.036820|3.036820	0.54896|0.54896	0.199773|0.199773	0.260191|0.260191	ENSG00000187726|ENSG00000187726	ENST00000542350|ENST00000339764;ENST00000537753;ENST00000543947	.|T;T;T	.|0.39229	.|1.09;1.09;1.09	5.54|5.54	4.59|4.59	0.56863|0.56863	.|HSP40/DnaJ peptide-binding (1);	.|0.115848	.|0.64402	.|D	.|0.000011	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.02708|0.02708	-0.52|-0.52	0.31243|0.31243	P|P	0.6949609999999999|0.6949609999999999	.|B	.|0.10296	.|0.003	.|B	.|0.16722	.|0.016	T|T	0.30851|0.30851	-0.9964|-0.9964	4|9	.|0.23891	.|T	.|0.37	.|.	13.1925|13.1925	0.59719|0.59719	0.0:0.2743:0.7257:0.0|0.0:0.2743:0.7257:0.0	.|.	.|309	.|P59910	.|DJB13_HUMAN	T|I	210|309;134;134	.|ENSP00000344431:M309I;ENSP00000439711:M134I;ENSP00000438576:M134I	.|ENSP00000344431:M309I	A|M	+|+	1|3	0|0	DNAJB13|DNAJB13	73358783|73358783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.898000|2.898000	0.48672|0.48672	2.619000|2.619000	0.88677|0.88677	0.644000|0.644000	0.83932|0.83932	GCT|ATG	G|0.758;A|0.242		0.622	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		A	73681135	G	A	73681135	3	1	58	1	0	0	0	0	1	0	0	0	4632	1319	46	3	957	3	DNAJB13	11	73681135	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	9106454	73681135	61325381	34	11923											
PHLDB1	23187	bcgsc.ca	37	chr11	118509668	118509668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcaggccgtgcaggaAtcagaacgcctggcccggga	16	13	2	1	rs483598	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:118509668A>G	ENST00000361417.2	+	12	3006	c.2595A>G	c.(2593-2595)gaA>gaG	p.E865E	PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000356063.5_Silent_p.E865E|PHLDB1_ENST00000524713.1_5'Flank|PHLDB1_ENST00000534672.1_3'UTR|AP002954.3_ENST00000530198.1_RNA	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	865										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)		CCGTGCAGGAATCAGAACGCC	0.612													G|||	2868	0.572684	0.4773	0.7089	5008	,	,		18170	0.6558		0.5368	False		,,,				2504	0.5562				p.E865E		.											.	PHLDB1-90	0			c.A2595G						.	G	,,	2087,2311	593.3+/-388.0	490,1107,602	38	36	37		2595,2595,2595	-1.5	0.7	11	dbSNP_83	37	4742,3848	531.7+/-382.0	1319,2104,872	no	coding-synonymous,coding-synonymous,coding-synonymous	PHLDB1	NM_001144758.1,NM_001144759.1,NM_015157.2	,,	1809,3211,1474	GG,GA,AA		44.7963,47.4534,47.4207	,,	865/1378,865/1320,865/1378	118509668	6829,6159	2199	4295	6494	SO:0001819	synonymous_variant	23187	exon11			GCAGGAATCAGAA		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.2595A>G	11.37:g.118509668A>G		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	127	5	NM_001144758	0	0	24	24	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																			A|0.454;G|0.546		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		G	118509668	A	G	118509668	2	3	58	1	0	0	0	0	0	0	0	1	11890	98	4	4		4	PHLDB1	11	118509668	Silent	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	44828533	118509668	16496848	35	11924											
HYLS1	219844	broad.mit.edu;bcgsc.ca	37	chr11	125770031	125770031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccccaatccaaacctcaGcatatatatgtcccaaacaa	3	14	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr11:125770031G>A	ENST00000425380.2	+	3	1549	c.768G>A	c.(766-768)caG>caA	p.Q256Q	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Silent_p.Q256Q|HYLS1_ENST00000526028.1_Silent_p.Q256Q	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	256						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAAACCTCAGCATATATATG	0.463																																					p.Q256Q	Esophageal Squamous(172;2590 2636 8884 10471)	.											.	HYLS1-91	0			c.G768A						.						88	82	84					11																	125770031		2201	4299	6500	SO:0001819	synonymous_variant	219844	exon3			ACCTCAGCATATA	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.768G>A	11.37:g.125770031G>A		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	103	5	NM_001134793	0	0	10	10	0	B3KXI8|Q96BX9	Silent	SNP	ENST00000425380.2	37	CCDS8467.1																																																																																			.		0.463	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		A	125770031	G	A	125770031	2	1	58	1	0	0	0	0	0	0	0	1	7496	962	34	3		3	HYLS1	11	125770031	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	7260363	125770031	9236485	36	11925											
BHLHE41	79365	broad.mit.edu	37	chr12	26275863	26275863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggccgcggacccggcGgccgagggagcgccggtgcc	22	15	0	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:26275863G>A	ENST00000242728.4	-	5	932	c.585C>T	c.(583-585)gcC>gcT	p.A195A	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	195					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CGGACCCGGCGGCCGAGGGAG	0.711																																					p.A195A		.											.	BHLHE41-226	0			c.C585T						.						6	9	8					12																	26275863		2043	4068	6111	SO:0001819	synonymous_variant	79365	exon5			CCCGGCGGCCGAG	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"Basic helix-loop-helix proteins"	16617	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 2", "Enhancer-of-split and hairy-related protein 1"	606200	"basic helix-loop-helix domain containing, class B, 3"	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.585C>T	12.37:g.26275863G>A		Somatic	49	2		WXS	Illumina GAIIx	Phase_I	40	4	NM_030762	0	0	12	13	1	A2I2N8	Silent	SNP	ENST00000242728.4	37	CCDS8706.1																																																																																			.		0.711	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		A	26275863	G	A	26275863	2	1	58	1	0	0	0	0	0	0	0	1	1426	1103	39	1		1	BHLHE41	12	26275863	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		26275863	107576032	37	11926											
KRT85	3891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52757872	52757872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcatagaggcgcctcaGgaagctagactcctccacca	8	15	3	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:52757872G>A	ENST00000257901.3	-	4	841	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	KRT85_ENST00000544265.1_Silent_p.L44L	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	256	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)		AGGCGCCTCAGGAAGCTAGAC	0.622																																					p.L256L		.											.	KRT85-91	0			c.C766T						.						103	105	104					12																	52757872		2203	4300	6503	SO:0001819	synonymous_variant	3891	exon4			GCCTCAGGAAGCT	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.766C>T	12.37:g.52757872G>A		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	157	26	NM_002283	0	0	0	0	0	Q9NSB1	Silent	SNP	ENST00000257901.3	37	CCDS8824.1																																																																																			.		0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		A	52757872	G	A	52757872	2	1	58	1	0	0	0	0	0	0	0	1	8526	991	35	3		3	KRT85	12	52757872	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	26482009	52757872	81094023	38	11927											
CD63	967	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	56119366	56119366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatcacctcgtagccactTctgatactcttcacgaggca	6	14	4	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:56119366T>G	ENST00000549117.1	-	8	1132	c.696A>C	c.(694-696)agA>agC	p.R232S	CD63_ENST00000548160.1_Missense_Mutation_p.R139S|CD63_ENST00000552754.1_Missense_Mutation_p.R209S|CD63_ENST00000548898.1_Missense_Mutation_p.R139S|CD63_ENST00000552067.1_Missense_Mutation_p.R139S|CD63_ENST00000546939.1_Missense_Mutation_p.R150S|CD63_ENST00000420846.3_Missense_Mutation_p.R230S|CD63_ENST00000552692.1_Missense_Mutation_p.R232S|CD63_ENST00000550776.1_Missense_Mutation_p.R150S|CD63_ENST00000257857.4_Missense_Mutation_p.R232S	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	232					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CGTAGCCACTTCTGATACTCT	0.493																																					p.R232S	Pancreas(123;1459 1747 6717 18841 37380)	.											.	CD63-90	0			c.A696C						.						103	96	99					12																	56119366		2203	4300	6503	SO:0001583	missense	967	exon8			GCCACTTCTGATA	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.696A>C	12.37:g.56119366T>G	ENSP00000447730:p.Arg232Ser	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	113	53	NM_001257390	1	1	1628	3231	1601	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133517	0.77662	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776	T;T;T;T;T;T;T;T;T;T	0.50548	0.85;0.85;1.09;0.85;0.74;1.08;1.08;1.08;0.83;0.74	5.29	1.29	0.21616	.	0.146852	0.44483	N	0.000455	T	0.51719	0.1691	L	0.54965	1.715	0.52501	D	0.999958	D;D;D	0.65815	0.995;0.975;0.981	P;P;P	0.59115	0.743;0.781;0.852	T	0.50030	-0.8875	10	0.72032	D	0.01	.	5.3332	0.15944	0.0:0.167:0.1497:0.6832	.	209;230;232	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	139;139;230;139;150;232;232;232;209;150	ENSP00000447938:R139S;ENSP00000449684:R139S;ENSP00000393502:R230S;ENSP00000449654:R139S;ENSP00000447356:R150S;ENSP00000449337:R232S;ENSP00000447730:R232S;ENSP00000257857:R232S;ENSP00000446807:R209S;ENSP00000448091:R150S	ENSP00000257857:R232S	R	-	3	2	CD63	54405633	0.753000	0.28349	0.998000	0.56505	0.979000	0.70002	-0.565000	0.05929	0.391000	0.25143	0.533000	0.62120	AGA	.		0.493	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			G	56119366	T	G	56119366	3	3	58	1	0	0	0	0	1	0	0	0	3036	1780	62	5	24	5	CD63	12	56119366	Missense_Mutation	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	3361494	56119366	77732529	39	11928											
USP15	9958	broad.mit.edu	37	chr12	62777929	62777929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagtagatatatttcatgGccttttcaaatcaactttag	5	7	3	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:62777929G>T	ENST00000280377.5	+	11	1377	c.1319G>T	c.(1318-1320)gGc>gTc	p.G440V	USP15_ENST00000353364.3_Missense_Mutation_p.G411V|USP15_ENST00000393654.3_Missense_Mutation_p.G415V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	440	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATATTTCATGGCCTTTTCAAA	0.343																																					p.G440V	Melanoma(181;615 2041 39364 49691 50001)	.											.	USP15-1084	0			c.G1319T						.						115	110	112					12																	62777929		2203	4299	6502	SO:0001583	missense	9958	exon11			TTCATGGCCTTTT	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1319G>T	12.37:g.62777929G>T	ENSP00000280377:p.Gly440Val	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_001252078	0	0	20	20	0	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631069	0.87660	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.44881	3.54;3.54;0.91	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83710	0.0187	9	.	.	.	-7.2919	18.8461	0.92208	0.0:0.0:1.0:0.0	.	440;411	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	411;440;415	ENSP00000258123:G411V;ENSP00000280377:G440V;ENSP00000377264:G415V	.	G	+	2	0	USP15	61064196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.690000	0.91761	0.655000	0.94253	GGC	.		0.343	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		T	62777929	G	T	62777929	3	4	58	1	0	0	0	0	1	0	0	0	17095	1203	42	3	1270	3	USP15	12	62777929	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	6658563	62777929	71073966	40	11929											
ARL6IP4	23457	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	123465730	123465730	+	5'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcgaggagtcgcagccGgtcccggggacgggggtcgg	21	12	0	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:123465730G>T	ENST00000542678.1	-	0	466				ARL6IP4_ENST00000543566.1_Missense_Mutation_p.R138L|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.R138L|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.R15L|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.R138L|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.R15L|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.R15L|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.R15L|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.R138L|ARL6IP4_ENST00000357866.4_Missense_Mutation_p.R15L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGTCGCAGCCGGTCCCGGGGA	0.672																																					p.R138L	Ovarian(49;786 1333 9175 38236)	.											.	ARL6IP4-90	0			c.G413T						.						22	23	23					12																	123465730		1857	3537	5394	SO:0001623	5_prime_UTR_variant	51329	exon2			GCAGCCGGTCCCG	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.-2373C>A	12.37:g.123465730G>T		Somatic	143	0		WXS	Illumina GAIIx	Phase_I	154	14	NM_018694	0	0	122	132	10	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035846	0.75617	.	.	ENSG00000182196	ENST00000544323;ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000412505;ENST00000439686;ENST00000456762;ENST00000357866	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53857	1.1;0.87;1.5;0.87;0.87;0.87;0.87;0.87;0.87;0.66;0.87;0.87;0.6	5.11	2.26	0.28386	.	.	.	.	.	T	0.57417	0.2052	L	0.55481	1.735	0.24550	N	0.99403	B;B;D;D;D;D	0.56521	0.349;0.3;0.97;0.976;0.976;0.97	B;B;P;P;P;P	0.55055	0.158;0.151;0.655;0.767;0.652;0.655	T	0.47824	-0.9087	9	0.72032	D	0.01	.	7.4283	0.27113	0.3543:0.0:0.6457:0.0	.	15;138;138;138;138;138	B3V0L1;Q66PJ3-5;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;.;AR6P4_HUMAN;.	L	138;138;138;138;138;15;15;138;15;15;15;16;15	ENSP00000445309:R138L;ENSP00000442718:R138L;ENSP00000313422:R138L;ENSP00000442200:R138L;ENSP00000376230:R138L;ENSP00000441406:R15L;ENSP00000406036:R15L;ENSP00000414847:R138L;ENSP00000396723:R15L;ENSP00000413132:R15L;ENSP00000396365:R15L;ENSP00000391598:R16L;ENSP00000350532:R15L	ENSP00000313422:R138L	R	+	2	0	ARL6IP4	122031683	0.028000	0.19301	0.257000	0.24404	0.948000	0.59901	0.581000	0.23819	0.265000	0.21872	0.549000	0.68633	CGG	.		0.672	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		T	123465730	G	T	123465730	1	4	58	0	1	0	0	0	0	0	0	0	944	1116	39	2		2	ARL6IP4	12	123465730	5'UTR	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	60687801	123465730	10386165	41	11930											
EP400	57634	hgsc.bcm.edu	37	chr12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAGCAGCAG													agcagcagcagcagcaacaaINScagcagcagcagcagcagca					rs10902490|rs113304321|rs528214697	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:132547093_132547094insCAGCAGCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAGCAGCAG	c.(8290-8292)cag>CAGCAGCAGcag	p.2764_2764Q>QQQQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQQQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQQQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQQQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQQQ			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.Q2727delinsQQQQ		.											.	EP400-520	9	Substitution - coding silent(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	c.8181_8182insCAGCAGCAG						.																																			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.8317_8325dupCAGCAGCAG	12.37:g.132547094_132547102dupCAGCAGCAG	ENSP00000333602:p.GlnGlnGln2782dup	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	184	40	NM_015409	0	0	0	0	0	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		CAGCAGCAG	132547094	-	CAGCAGCAG	132547093	7	5	58	1	0	1	1	0	0	0	0	0	5165	40	2	0	8360	0	EP400	12	132547093	In_Frame_Ins	INS	-	TCGA-P6-A5OF-01A-11D-A29I-10	9081363	132547093	1304802	42	11931											
PXMP2	5827	hgsc.bcm.edu	37	chr12	133264332	133264332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcgctcgcccagtacCtgctcttcctgcggctctac	12	17	2	0	rs11538534	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr12:133264332C>T	ENST00000317479.3	+	1	141	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	PXMP2_ENST00000428960.2_5'Flank|POLE_ENST00000535270.1_5'Flank|PXMP2_ENST00000545677.1_5'Flank|PXMP2_ENST00000539093.1_5'Flank|PXMP2_ENST00000543589.1_Silent_p.L26L|RP13-672B3.2_ENST00000537262.1_5'Flank|POLE_ENST00000320574.5_5'Flank	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	26						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCCAGTACCTGCTCTTCCT	0.801													c|||	1952	0.389776	0.2231	0.464	5008	,	,		4712	0.3244		0.5706	False		,,,				2504	0.4438				p.L26L		.											.	PXMP2-90	0			c.C76T						.						1	1	1					12																	133264332		888	1858	2746	SO:0001819	synonymous_variant	5827	exon1			CAGTACCTGCTCT		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.76C>T	12.37:g.133264332C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_018663	0	0	5	5	0		Silent	SNP	ENST00000317479.3	37	CCDS9279.1																																																																																			C|0.572;T|0.428		0.801	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		T	133264332	C	T	133264332	2	4	58	1	0	0	0	0	0	0	0	1	12895	680	24	3		3	PXMP2	12	133264332	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	717239	133264332	587563	43	11932											
KIAA0564	23078	broad.mit.edu	37	chr13	42189173	42189173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgggtcctccttcccGtgtttgggggagcttacatc	12	11	1	0	rs527452350		TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr13:42189173G>T	ENST00000379310.3	-	38	4727	c.4659C>A	c.(4657-4659)caC>caA	p.H1553Q		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1553						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCTCCTTCCCGTGTTTGGGGG	0.502																																					p.H1553Q		.											.	.	0			c.C4659A						.						151	154	153					13																	42189173		1984	4160	6144	SO:0001583	missense	23078	exon38			CTTCCCGTGTTTG	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.4659C>A	13.37:g.42189173G>T	ENSP00000368612:p.His1553Gln	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	93	3	NM_015058	0	0	21	21	0	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.702044	0.68501	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11495	2.77	5.93	-4.16	0.03869	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	P	0.56700	0.804	T	0.20107	-1.0285	10	0.62326	D	0.03	.	13.9302	0.63991	0.7826:0.0:0.2174:0.0	.	1553	A3KMH1	K0564_HUMAN	Q	1457;1553	ENSP00000368612:H1553Q	ENSP00000251030:H1457Q	H	-	3	2	KIAA0564	41087173	0.160000	0.22878	0.945000	0.38365	0.992000	0.81027	-0.314000	0.08092	-0.722000	0.04922	-0.136000	0.14681	CAC	.		0.502	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42189173	G	T	42189173	3	4	58	1	0	0	0	0	1	0	0	0	8212	1136	40	2	1090	2	KIAA0564	13	42189173	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		42189173	72980705	44	11933											
ING1	3621	hgsc.bcm.edu	37	chr13	111368316	111368316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacagtttcaggccgcatctCtgctgacccgagggtggggc	15	12	2	1	rs9555726	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14	24	21		526,,,	-5.6	0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005537	0	0	2	5	3	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111368316	C	T	111368316	2	4	58	1	0	0	0	0	0	0	0	1	7762	912	32	3		3	ING1	13	111368316	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	69179143	111368316	3801562	45	11934											
TDP1	55775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	90450896	90450896	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatacccacgaattgctgaTggaacccacaaatctggaga	8	10	1	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr14:90450896T>C	ENST00000335725.4	+	9	1171	c.921T>C	c.(919-921)gaT>gaC	p.D307D	TDP1_ENST00000555880.1_Silent_p.D307D|TDP1_ENST00000357382.3_Silent_p.D68D|TDP1_ENST00000393452.3_Silent_p.D307D|TDP1_ENST00000393454.2_Silent_p.D307D	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	307					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GAATTGCTGATGGAACCCACA	0.408								Repair of DNA-protein crosslinks																													p.D307D		.											.	TDP1-92	0			c.T921C						.						171	165	167					14																	90450896		2203	4300	6503	SO:0001819	synonymous_variant	55775	exon9			TGCTGATGGAACC	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.921T>C	14.37:g.90450896T>C		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	44	24	NM_018319	0	0	2	8	6	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	CCDS9888.1																																																																																			.		0.408	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		C	90450896	T	C	90450896	2	2	58	1	0	0	0	0	0	0	0	1	15775	1461	51	4		4	TDP1	14	90450896	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10		90450896	16898644	46	11935											
MGA	23269	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	42042367	42042367	+	Frame_Shift_Del	DEL	G	G	-													ccttaaccaggaaatgtgttGgagcttcacaggaatgtaag							TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr15:42042367delG	ENST00000570161.1	+	16	6562	c.6562delG	c.(6562-6564)ggafs	p.G2188fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.G2188fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.G2149fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.G1979fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.G1979fs			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)			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)	GAAATGTGTTGGAGCTTCACA	0.438																																					p.G2188fs		.											.	MGA-522	0			c.6562delG						.						102	101	101					15																	42042367		1879	4112	5991	SO:0001589	frameshift_variant	23269	exon17			TGTGTTGGAGCTT	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.6562delG	15.37:g.42042367delG	ENSP00000457035:p.Gly2188fs	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	41	31	NM_001164273	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																			.		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		-	42042367	G	-	42042367	7	5	58	1	0	1	0	1	0	0	0	0	9578	1349	47	0	6624	0	MGA	15	42042367	Frame_Shift_Del	DEL	G	TCGA-P6-A5OF-01A-11D-A29I-10		42042367	60489025	47	11936											
MFAP1	4236	bcgsc.ca	37	chr15	44102010	44102010	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtatttgcccttaacAgctttgttggtaatgacttt	7	7	0	1	rs2228368	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr15:44102010A>C	ENST00000267812.3	-	7	1222	c.990T>G	c.(988-990)gcT>gcG	p.A330A		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	330					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TGCCCTTAACAGCTTTGTTGG	0.433													A|||	1015	0.202676	0.2935	0.1801	5008	,	,		19004	0.2599		0.0954	False		,,,				2504	0.1472				p.A330A		.											.	MFAP1-226	0			c.T990G						.	A		1052,3344	383.5+/-324.9	117,818,1263	252	231	238		990	3.3	1	15	dbSNP_98	238	824,7772	190.8+/-237.2	39,746,3513	no	coding-synonymous	MFAP1	NM_005926.2		156,1564,4776	CC,CA,AA		9.5859,23.9308,14.4397		330/440	44102010	1876,11116	2198	4298	6496	SO:0001819	synonymous_variant	4236	exon7			CTTAACAGCTTTG		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.990T>G	15.37:g.44102010A>C		Somatic	197	2		WXS	Illumina GAIIx	Phase_I	109	5	NM_005926	0	0	21	21	0	Q86TG6	Silent	SNP	ENST00000267812.3	37	CCDS10105.1																																																																																			T|0.304;G|0.088		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		C	44102010	A	C	44102010	2	2	58	1	0	0	0	0	0	0	0	1	9551	175	7	5		5	MFAP1	15	44102010	Silent	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	2059643	44102010	58429382	48	11937											
GOLGA6A	342096	bcgsc.ca	37	chr15	74364639	74364639	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcactgtccagatgttGtcctccatctcctgtaggga	8	14	2	1	rs200350318		TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr15:74364639G>C	ENST00000290438.3	-	14	1553	c.1513C>G	c.(1513-1515)Caa>Gaa	p.Q505E	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	505						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCCAGATGTTGTCCTCCATCT	0.632																																					p.Q505E		.											.	GOLGA6A-44	0			c.C1513G						.	C	GLU/GLN	13,2839		0,13,1413	43	76	64		1513	-1.8	0	15		64	41,5189		0,41,2574	no	missense	GOLGA6A	NM_001038640.2	29	0,54,3987	CC,CG,GG		0.7839,0.4558,0.6682	benign	505/694	74364639	54,8028	1426	2615	4041	SO:0001583	missense	342096	exon14			GATGTTGTCCTCC	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1513C>G	15.37:g.74364639G>C	ENSP00000290438:p.Gln505Glu	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	32	6	NM_001038640	0	0	0	0	0	A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.871708	0.00062	0.004558	0.007839	ENSG00000159289	ENST00000290438	T	0.17213	2.29	0.887	-1.77	0.07982	.	.	.	.	.	T	0.02193	0.0068	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22068	-1.0227	9	0.02654	T	1	.	5.0871	0.14689	0.1703:0.3999:0.4298:0.0	.	505	Q9NYA3	GOG6A_HUMAN	E	505	ENSP00000290438:Q505E	ENSP00000290438:Q505E	Q	-	1	0	GOLGA6A	72151692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.799000	0.00762	-2.200000	0.00747	-2.001000	0.00444	CAA	G|0.999;C|0.001		0.632	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		C	74364639	G	C	74364639	3	2	58	1	0	0	0	0	1	0	0	0	6583	1386	48	3	588	3	GOLGA6A	15	74364639	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	30262629	74364639	28166753	49	11938											
E4F1	1877	broad.mit.edu	37	chr16	2282180	2282180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcctaggtggtgggCacatcaaagaggtcatcgtg	13	9	3	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr16:2282180C>A	ENST00000301727.4	+	4	472	c.424C>A	c.(424-426)Cac>Aac	p.H142N	E4F1_ENST00000565090.1_Missense_Mutation_p.H142N|E4F1_ENST00000564139.1_Missense_Mutation_p.H142N	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	142					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						AGGTGGTGGGCACATCAAAGA	0.687																																					p.H142N		.											.	E4F1-187	0			c.C424A						.						62	74	70					16																	2282180		2196	4292	6488	SO:0001583	missense	1877	exon4			GGTGGGCACATCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.424C>A	16.37:g.2282180C>A	ENSP00000301727:p.His142Asn	Somatic	42	1		WXS	Illumina GAIIx	Phase_I	54	4	NM_004424	0	0	2	2	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993031	0.35131	.	.	ENSG00000167967	ENST00000301727	T	0.06218	3.33	5.33	1.97	0.26223	.	0.446382	0.27705	N	0.018185	T	0.14098	0.0341	L	0.42245	1.32	0.40811	D	0.98342	B;B;D	0.63880	0.076;0.076;0.993	B;B;D	0.70227	0.041;0.021;0.968	T	0.01397	-1.1365	10	0.87932	D	0	-13.8253	8.2677	0.31824	0.3165:0.5301:0.1534:0.0	.	138;142;142	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	N	142	ENSP00000301727:H142N	ENSP00000301727:H142N	H	+	1	0	E4F1	2222181	1.000000	0.71417	0.983000	0.44433	0.868000	0.49771	1.279000	0.33191	0.569000	0.29329	0.561000	0.74099	CAC	.		0.687	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		A	2282180	C	A	2282180	3	1	58	1	0	0	0	0	1	0	0	0	4888	710	25	3	438	3	E4F1	16	2282180	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		2282180	88072573	50	11939											
NUDT16L1	84309	hgsc.bcm.edu	37	chr16	4744169	4744169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcacctgtacgcgcGgcagctgacgctggagcagc	16	14	0	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr16:4744169G>T	ENST00000304301.6	+	2	377	c.344G>T	c.(343-345)cGg>cTg	p.R115L	NUDT16L1_ENST00000586536.1_Missense_Mutation_p.R115L|NUDT16L1_ENST00000405142.1_Missense_Mutation_p.R115L|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.R115L	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	115						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						CTGTACGCGCGGCAGCTGACG	0.766																																					p.R115L		.											.	NUDT16L1-90	0			c.G344T						.						8	8	8					16																	4744169		2120	4211	6331	SO:0001583	missense	84309	exon2			ACGCGCGGCAGCT	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.344G>T	16.37:g.4744169G>T	ENSP00000306670:p.Arg115Leu	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	29	4	NM_032349	0	0	37	37	0	Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734420	0.69189	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	T	0.39997	1.05	4.13	4.13	0.48395	NUDIX hydrolase domain-like (1);	0.063272	0.64402	D	0.000009	T	0.39358	0.1075	N	0.11427	0.14	0.43647	D	0.996058	D;D	0.89917	1.0;0.98	D;P	0.66084	0.941;0.703	T	0.32877	-0.9890	10	0.46703	T	0.11	.	9.2625	0.37621	0.1025:0.0:0.8975:0.0	.	115;115	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	L	115	ENSP00000306670:R115L	ENSP00000306670:R115L	R	+	2	0	NUDT16L1	4684170	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.000000	0.40816	2.015000	0.59207	0.650000	0.86243	CGG	.		0.766	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		T	4744169	G	T	4744169	3	4	58	1	0	0	0	0	1	0	0	0	10772	1116	39	2	350	2	NUDT16L1	16	4744169	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	2461989	4744169	85610584	51	11940											
USP31	57478	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	23119496	23119496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcagtgcattctttgaCacaatagtctatgcaggtaa	8	8	2	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr16:23119496C>T	ENST00000219689.7	-	2	641	c.642G>A	c.(640-642)gtG>gtA	p.V214V		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	169	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CATTCTTTGACACAATAGTCT	0.423																																					p.V214V		.											.	USP31-663	0			c.G642A						.						82	82	82					16																	23119496		2197	4300	6497	SO:0001819	synonymous_variant	57478	exon2			CTTTGACACAATA	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.642G>A	16.37:g.23119496C>T		Somatic	126	2		WXS	Illumina GAIIx	Phase_I	116	52	NM_020718	0	0	0	0	0	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	CCDS10607.1																																																																																			.		0.423	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23119496	C	T	23119496	2	4	58	1	0	0	0	0	0	0	0	1	17111	465	17	3		3	USP31	16	23119496	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	18375327	23119496	67235257	52	11941											
TMEM188	255919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	50063678	50063678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacagctactggtgcctGgaactggttaatagaccctg	11	10	0	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr16:50063678G>T	ENST00000427478.2	+	3	194	c.140G>T	c.(139-141)tGg>tTg	p.W47L	CNEP1R1_ENST00000565556.1_Missense_Mutation_p.W15L|CNEP1R1_ENST00000562576.1_Missense_Mutation_p.W47L|CNEP1R1_ENST00000458059.3_Missense_Mutation_p.W64L	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	47					lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											ACTGGTGCCTGGAACTGGTTA	0.318																																					p.W64L		.											.	.	0			c.G191T						.						183	165	171					16																	50063678		1863	4091	5954	SO:0001583	missense	255919	exon4			GTGCCTGGAACTG	AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.140G>T	16.37:g.50063678G>T	ENSP00000394224:p.Trp47Leu	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	105	14	NM_153261	0	0	14	14	0	Q4G1A9|Q5H9V0|Q8NE06	Missense_Mutation	SNP	ENST00000427478.2	37		.	.	.	.	.	.	.	.	.	.	G	29.5	5.007830	0.93287	.	.	ENSG00000205423	ENST00000458059;ENST00000427478	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.63640	0.2528	L	0.55990	1.75	0.80722	D	1	P;P	0.51933	0.681;0.949	B;P	0.48189	0.437;0.57	T	0.62450	-0.6852	8	0.45353	T	0.12	-10.5676	20.3046	0.98621	0.0:0.0:1.0:0.0	.	47;64	Q8N9A8;Q8N9A8-2	TM188_HUMAN;.	L	64;47	.	ENSP00000394224:W47L	W	+	2	0	TMEM188	48621179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.878000	0.98634	0.650000	0.86243	TGG	.		0.318	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153261		T	50063678	G	T	50063678	3	4	58	1	0	0	0	0	1	0	0	0	16157	1357	47	3	205	3	TMEM188	16	50063678	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	26944182	50063678	40291075	53	11942											
CCL11	6356	broad.mit.edu;ucsc.edu	37	chr17	32614690	32614690	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtatctggaccaaaaatCtccaactccaaagccataaa	5	11	2	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr17:32614690C>A	ENST00000305869.3	+	3	416	c.275C>A	c.(274-276)tCt>tAt	p.S92Y		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	92					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GACCAAAAATCTCCAACTCCA	0.433																																					p.S92Y		.											.	CCL11-90	0			c.C275A						.						68	59	62					17																	32614690		2203	4300	6503	SO:0001583	missense	6356	exon3			AAAAATCTCCAAC	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.275C>A	17.37:g.32614690C>A	ENSP00000302234:p.Ser92Tyr	Somatic	106	2		WXS	Illumina GAIIx	Phase_I	47	9	NM_002986	0	0	0	0	0	P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992550	0.35131	.	.	ENSG00000172156	ENST00000305869	T	0.04049	3.72	4.47	-1.38	0.09027	Chemokine interleukin-8-like domain (1);	0.348748	0.18906	N	0.127906	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.44659	0.84	P	0.45232	0.474	T	0.30679	-0.9970	9	0.42905	T	0.14	.	7.8473	0.29433	0.0:0.4569:0.0:0.5431	.	92	P51671	CCL11_HUMAN	Y	92	ENSP00000302234:S92Y	ENSP00000302234:S92Y	S	+	2	0	CCL11	29638803	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.625000	0.05534	-0.178000	0.10672	0.561000	0.74099	TCT	.		0.433	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		A	32614690	C	A	32614690	3	1	58	1	0	0	0	0	1	0	0	0	2890	913	32	3	285	3	CCL11	17	32614690	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		32614690	48580520	54	11943											
NT5C	30833	hgsc.bcm.edu	37	chr17	73127683	73127683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaggaagccgcggcgTtgctccagcggcacgtgcgg	18	14	0	0	rs4788867	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr17:73127683T>C	ENST00000245552.2	-	1	207	c.120A>G	c.(118-120)caA>caG	p.Q40Q	NT5C_ENST00000582160.1_5'Flank|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Silent_p.Q40Q|NT5C_ENST00000578337.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	40					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	AGCCGCGGCGTTGCTCCAGCG	0.766													C|||	2491	0.497404	0.4372	0.5115	5008	,	,		10373	0.2817		0.66	False		,,,				2504	0.6237				p.Q40Q		.											.	NT5C-90	0			c.A120G						.						1	1	1					17																	73127683		1084	2247	3331	SO:0001819	synonymous_variant	30833	exon1			GCGGCGTTGCTCC	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.120A>G	17.37:g.73127683T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001252377	0	0	0	4	4	Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	37	CCDS11715.1																																																																																			T|0.502;C|0.498		0.766	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			C	73127683	T	C	73127683	2	2	58	1	0	0	0	0	0	0	0	1	10723	1722	60	4		4	NT5C	17	73127683	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	40512993	73127683	8067527	55	11944											
SEC14L1	6397	bcgsc.ca	37	chr17	75190962	75190962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccctcagcagccccagCgcacctgagcccgtggtggg	14	16	1	1	rs674402	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr17:75190962C>T	ENST00000413679.2	+	7	981	c.678C>T	c.(676-678)agC>agT	p.S226S	SEC14L1_ENST00000591437.1_Silent_p.S192S|SEC14L1_ENST00000443798.4_Silent_p.S226S|SEC14L1_ENST00000392476.2_Silent_p.S226S|SEC14L1_ENST00000585618.1_Silent_p.S226S|SEC14L1_ENST00000430767.4_Silent_p.S226S|SEC14L1_ENST00000431431.2_Silent_p.S192S|SEC14L1_ENST00000436233.4_Silent_p.S226S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	226					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						GCAGCCCCAGCGCACCTGAGC	0.622													C|||	1794	0.358227	0.3064	0.3329	5008	,	,		15446	0.3433		0.3559	False		,,,				2504	0.4642				p.S226S		.											.	SEC14L1-92	0			c.C678T						.	C	,,,,,,	1390,3016	456.7+/-351.4	232,926,1045	65	64	64		678,678,678,576,678,678,678	-11.2	0	17	dbSNP_83	64	3214,5386	476.3+/-369.4	585,2044,1671	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEC14L1	NM_001039573.2,NM_001143998.1,NM_001143999.1,NM_001144001.1,NM_001204408.1,NM_001204410.1,NM_003003.3	,,,,,,	817,2970,2716	TT,TC,CC		37.3721,31.5479,35.399	,,,,,,	226/720,226/716,226/716,192/682,226/720,226/716,226/716	75190962	4604,8402	2203	4300	6503	SO:0001819	synonymous_variant	6397	exon9			CCCCAGCGCACCT	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.678C>T	17.37:g.75190962C>T		Somatic	198	2		WXS	Illumina GAIIx	Phase_I	124	5	NM_001204408	0	0	43	43	0	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																			C|0.643;T|0.357		0.622	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		T	75190962	C	T	75190962	2	4	58	1	0	0	0	0	0	0	0	1	14026	767	27	1		1	SEC14L1	17	75190962	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	2063279	75190962	6004248	56	11945											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	31324560	31324560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataactttgctgagcaggCacgtggcccagctcctttca	9	13	2	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr18:31324560C>T	ENST00000269197.5	+	12	4748	c.4748C>T	c.(4747-4749)gCa>gTa	p.A1583V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1583					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						GCTGAGCAGGCACGTGGCCCA	0.483											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1583V		.											.	ASXL3-49	0			c.C4748T						.						26	25	25					18																	31324560		1935	4158	6093	SO:0001583	missense	80816	exon12			AGCAGGCACGTGG	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.4748C>T	18.37:g.31324560C>T	ENSP00000269197:p.Ala1583Val	Somatic	43	0	823	WXS	Illumina GAIIx	Phase_I	28	23	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	9.093	1.002195	0.19121	.	.	ENSG00000141431	ENST00000269197	T	0.13778	2.56	5.87	4.96	0.65561	.	.	.	.	.	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	0.999998	B	0.24483	0.104	B	0.19148	0.024	T	0.10428	-1.0630	9	0.44086	T	0.13	.	5.761	0.18201	0.0:0.65:0.1833:0.1667	.	1583	Q9C0F0	ASXL3_HUMAN	V	1583	ENSP00000269197:A1583V	ENSP00000269197:A1583V	A	+	2	0	ASXL3	29578558	0.369000	0.25039	0.965000	0.40720	0.626000	0.37791	2.392000	0.44433	2.941000	0.99782	0.655000	0.94253	GCA	.		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31324560	C	T	31324560	3	4	58	1	0	0	0	0	1	0	0	0	1069	710	25	3	4794	3	ASXL3	18	31324560	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		31324560	46752688	57	11946											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_005224	0	0	0	1	1	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	58	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10		929753	58199230	58	11947											
TCF3	6929	hgsc.bcm.edu	37	chr19	1619333	1619333	+	Silent	SNP	G	G	A													accaggcctgcgtgccgcccGcccagtgacatggggccggt					rs1140828	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:1619333G>A	ENST00000262965.5	-	15	1652	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.G385G|TCF3_ENST00000588136.1_Silent_p.G436G|TCF3_ENST00000344749.5_Silent_p.G436G|TCF3_ENST00000453954.2_Silent_p.G352G	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCCGCCCGCCCAGTGACA	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								G|||	1179	0.235423	0.1702	0.2435	5008	,	,		13595	0.2897		0.3032	False		,,,				2504	0.1922				p.G436G		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.C1308T						.	G	,	770,3572		79,612,1480	11	14	13		1308,1308	-3.3	0.4	19	dbSNP_86	13	2644,5770		436,1772,1999	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	515,2384,3479	AA,AG,GG		31.4238,17.7338,26.7639	,	436/652,436/655	1619333	3414,9342	2171	4207	6378	SO:0001819	synonymous_variant	6929	exon15			CCGCCCGCCCAGT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1308C>T	19.37:g.1619333G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	6	NM_003200	0	0	12	12	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.749;A|0.251		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		A	1619333	G	A	1619333	2	1	58	1	0	0	0	0	0	0	0	1	15741	1074	38	1		1	TCF3	19	1619333	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	689580	1619333	57509650	59	11948	115	2									
TCF3	6929	hgsc.bcm.edu	37	chr19	1619339	1619339	+	Silent	SNP	T	T	C													cctgcgtgccgcccgcccagTgacatggggccggtgaaacc					rs8140	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S|TCF3_ENST00000453954.2_Silent_p.S350S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11	14	13		1302,1302	-7.1	0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_003200	0	0	14	14	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		C	1619339	T	C	1619339	2	2	58	1	0	0	0	0	0	0	0	1	15741	1683	59	4		4	TCF3	19	1619339	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	6	1619339	57509644	60	11949	115	2									
C19orf10	56005	hgsc.bcm.edu	37	chr19	4670313	4670313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccacaagctcgcgcCgacgccgttccaccctccgc	10	22	0	0	rs2270090	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:4670313C>G	ENST00000262947.3	-	1	69	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	C19orf10_ENST00000599630.1_Missense_Mutation_p.G12R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	12			G -> R (in dbSNP:rs2270090).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AAGCTCGCGCCGACGCCGTTC	0.756													c|||	1444	0.288339	0.6589	0.098	5008	,	,		7783	0.2411		0.1103	False		,,,				2504	0.1544				p.G12R		.											.	C19orf10-90	0			c.G34C						.	C	ARG/GLY	1761,2025		414,933,546	4	5	4		34	-4.8	0	19	dbSNP_100	4	578,6710		38,502,3104	yes	missense	C19orf10	NM_019107.3	125	452,1435,3650	GG,GC,CC		7.9308,46.5135,21.1215	benign	12/174	4670313	2339,8735	1893	3644	5537	SO:0001583	missense	56005	exon1			TCGCGCCGACGCC	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"interleukin 27 working designation"	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.34G>C	19.37:g.4670313C>G	ENSP00000262947:p.Gly12Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	5	NM_019107	0	0	1	2	1	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	CCDS12133.1	541	0.24771062271062272	295	0.5995934959349594	32	0.08839779005524862	134	0.23426573426573427	80	0.10554089709762533	C	13.04	2.119829	0.37436	0.465135	0.079308	ENSG00000074842	ENST00000262947	T	0.47177	0.85	3.82	-4.84	0.03151	.	1.090020	0.07201	U	0.857494	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.09022	0.002	B	0.15052	0.012	T	0.44329	-0.9335	9	0.59425	D	0.04	-5.96	1.5568	0.02586	0.118:0.2656:0.2321:0.3842	rs2270090;rs60071392	12	Q969H8	CS010_HUMAN	R	12	ENSP00000262947:G12R	ENSP00000262947:G12R	G	-	1	0	C19orf10	4621313	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.427000	0.01026	-1.087000	0.03081	-0.513000	0.04457	GGC	C|0.752;G|0.248		0.756	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		G	4670313	C	G	4670313	3	3	58	1	0	0	0	0	1	0	0	0	1915	652	23	2	511	2	C19orf10	19	4670313	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	3050974	4670313	54458670	61	11950											
CLPP	8192	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	6364521	6364521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcagtacatcctcaacccGatctgcacctggtgcgtggg	11	13	2	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:6364521G>A	ENST00000245816.4	+	4	549	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596605.1_Intron|CLPP_ENST00000596149.1_Silent_p.P55P	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	142					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						TCCTCAACCCGATCTGCACCT	0.687																																					p.P142P		.											.	CLPP-91	0			c.G426A						.						36	33	34					19																	6364521		2201	4299	6500	SO:0001819	synonymous_variant	8192	exon4			CAACCCGATCTGC	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.426G>A	19.37:g.6364521G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	186	12	NM_006012	0	0	140	144	4	B2R4W5	Silent	SNP	ENST00000245816.4	37	CCDS12162.1																																																																																			.		0.687	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012		A	6364521	G	A	6364521	2	1	58	1	0	0	0	0	0	0	0	1	3559	1045	37	1		1	CLPP	19	6364521	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	1694208	6364521	52764462	62	11951											
MCOLN1	57192	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	7589911	7589911	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcggggccttcaccggccccTccgacacccccagaagagga	12	18	1	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:7589911T>A	ENST00000264079.6	+	2	221	c.96T>A	c.(94-96)ccT>ccA	p.P32P		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	32					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						CACCGGCCCCTCCGACACCCC	0.632																																					p.P32P		.											.	MCOLN1-153	0			c.T96A						.						22	24	24					19																	7589911		2203	4300	6503	SO:0001819	synonymous_variant	57192	exon2			GGCCCCTCCGACA	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.96T>A	19.37:g.7589911T>A		Somatic	71	1		WXS	Illumina GAIIx	Phase_I	67	26	NM_020533	2	0	49	79	28	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	CCDS12180.1																																																																																			.		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		A	7589911	T	A	7589911	2	1	58	1	0	0	0	0	0	0	0	1	9433	1538	54	5		5	MCOLN1	19	7589911	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	1225390	7589911	51539072	63	11952											
MUC16	94025	bcgsc.ca	37	chr19	9075969	9075969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatctgggcacctgcCctggatgtgcagaagtggtg	15	10	1	2	rs2591593	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:9075969C>T	ENST00000397910.4	-	3	11680	c.11477G>A	c.(11476-11478)gGg>gAg	p.G3826E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3827	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.G3826E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCACCTGCCCTGGATGTGC	0.507													C|||	1243	0.248203	0.2005	0.2118	5008	,	,		21707	0.249		0.3121	False		,,,				2504	0.272				p.G3826E		.											.	MUC16-566	2	Substitution - Missense(2)	stomach(2)	c.G11477A						.	C	GLU/GLY	852,3266		98,656,1305	209	197	201		11477	-0.6	0	19	dbSNP_100	201	2423,5995		347,1729,2133	yes	missense	MUC16	NM_024690.2	98	445,2385,3438	TT,TC,CC		28.7836,20.6897,26.1248	possibly-damaging	3826/14508	9075969	3275,9261	2059	4209	6268	SO:0001583	missense	94025	exon3			ACCTGCCCTGGAT	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.11477G>A	19.37:g.9075969C>T	ENSP00000381008:p.Gly3826Glu	Somatic	224	2		WXS	Illumina GAIIx	Phase_I	260	8	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	551	0.2522893772893773	109	0.22154471544715448	88	0.2430939226519337	122	0.21328671328671328	232	0.30606860158311344	c	4.377	0.069544	0.08436	0.206897	0.287836	ENSG00000181143	ENST00000397910	T	0.03553	3.89	1.67	-0.571	0.11749	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	.	.	.	P	0.38370	0.628	B	0.28232	0.087	T	0.49753	-0.8906	8	0.87932	D	0	.	4.0285	0.09698	0.0:0.5788:0.0:0.4212	rs2591593;rs17418331;rs52808109;rs60034029;rs2591593	3826	B5ME49	.	E	3826	ENSP00000381008:G3826E	ENSP00000381008:G3826E	G	-	2	0	MUC16	8936969	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-0.107000	0.10873	-0.095000	0.12351	0.205000	0.17691	GGG	C|0.750;T|0.250		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9075969	C	T	9075969	3	4	58	1	0	0	0	0	1	0	0	0	10011	623	22	3	32374	3	MUC16	19	9075969	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	1486058	9075969	50053014	64	11953											
OCEL1	79629	hgsc.bcm.edu	37	chr19	17337555	17337555	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgacgccccccgcaggacCcgcccatcagcccggaaacc	9	22	1	0	rs3745163	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:17337555C>A	ENST00000215061.4	+	2	167	c.123C>A	c.(121-123)acC>acA	p.T41T	OCEL1_ENST00000601529.1_Silent_p.T41T|OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	41	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCGCAGGACCCGCCCATCAG	0.746													C|||	1146	0.228834	0.1702	0.2522	5008	,	,		10081	0.4018		0.2018	False		,,,				2504	0.1411				p.T41T		.											.	OCEL1-68	0			c.C123A						.	C		573,3093		51,471,1311	4	6	5		123	-3.2	0	19	dbSNP_107	5	1379,6017		128,1123,2447	no	coding-synonymous	OCEL1	NM_024578.1		179,1594,3758	AA,AC,CC		18.6452,15.6301,17.646		41/265	17337555	1952,9110	1833	3698	5531	SO:0001819	synonymous_variant	79629	exon2			CAGGACCCGCCCA	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.123C>A	19.37:g.17337555C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	7	NM_024578	0	0	5	30	25		Silent	SNP	ENST00000215061.4	37	CCDS12351.1																																																																																			C|0.734;A|0.266		0.746	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		A	17337555	C	A	17337555	2	1	58	1	0	0	0	0	0	0	0	1	10855	610	22	3		3	OCEL1	19	17337555	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	8261586	17337555	41791428	65	11954											
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	22171652	22171652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctgctgtgcagtgtcCaggcattgccactcctccag	9	13	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:22171652C>T	ENST00000397126.4	-	2	211	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ZNF208_ENST00000601773.1_Silent_p.L21L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Silent_p.L21L	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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)				GTGCAGTGTCCAGGCATTGCC	0.408																																					p.L21L		.											.	ZNF208-7	0			c.G63A						.						135	144	141					19																	22171652		2203	4299	6502	SO:0001819	synonymous_variant	7757	exon2			AGTGTCCAGGCAT	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.63G>A	19.37:g.22171652C>T		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	189	22	NM_007153	0	0	28	28	0		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																			.		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22171652	C	T	22171652	2	4	58	1	0	0	0	0	0	0	0	1	17814	581	21	3		3	ZNF208	19	22171652	Silent	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	4834097	22171652	36957331	66	11955											
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704002	29704002	+	Silent	SNP	T	T	C													aggacgggcgcgaacgggccTgagcgggatgctaccgacaa					rs11666764	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:29704002T>C	ENST00000304863.4	-	1	446	c.24A>G	c.(22-24)tcA>tcG	p.S8S	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	8					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGAACGGGCCTGAGCGGGATG	0.751													C|||	4781	0.954673	0.9433	0.9294	5008	,	,		9645	0.999		0.9195	False		,,,				2504	0.9785				p.S8S		.											.	UQCRFS1-226	0			c.A24G						.						1	2	2					19																	29704002		760	1811	2571	SO:0001819	synonymous_variant	7386	exon1			CGGGCCTGAGCGG	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.24A>G	19.37:g.29704002T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_006003	0	0	1	1	0	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																			T|0.072;C|0.928		0.751	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704002	T	C	29704002	2	2	58	1	0	0	0	0	0	0	0	1	17070	1567	55	4		4	UQCRFS1	19	29704002	Silent	SNP	T	TCGA-P6-A5OF-01A-11D-A29I-10	7532350	29704002	29424981	67	11956	116	2									
UQCRFS1	7386	hgsc.bcm.edu	37	chr19	29704010	29704010	+	Missense_Mutation	SNP	A	A	C													cgcgaacgggcctgagcgggAtgctaccgacaacatggcga					rs8100724	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:29704010A>C	ENST00000304863.4	-	1	438	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	CTB-32O4.2_ENST00000587859.1_lincRNA	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	6			S -> A (in dbSNP:rs8100724). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2158323, ECO:0000269|PubMed:7721092}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CCTGAGCGGGATGCTACCGAC	0.746													C|||	4777	0.953874	0.944	0.9265	5008	,	,		9603	0.999		0.9165	False		,,,				2504	0.9785				p.S6A		.											.	UQCRFS1-226	0			c.T16G						.						1	2	2					19																	29704010		816	1888	2704	SO:0001583	missense	7386	exon1			AGCGGGATGCTAC	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.16T>G	19.37:g.29704010A>C	ENSP00000306397:p.Ser6Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_006003	0	0	1	1	0	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	2044	0.9358974358974359	461	0.9369918699186992	326	0.9005524861878453	569	0.9947552447552448	688	0.9076517150395779	C	0.037	-1.301919	0.01353	.	.	ENSG00000169021	ENST00000304863	T	0.36520	1.25	4.42	-0.0799	0.13708	Ubiquinol-cytochrome c reductase 8kDa, N-terminal (1);Globular protein, non-globular alpha/beta subunit (1);	0.198900	0.43579	N	0.000544	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	9	0.02654	T	1	.	4.4059	0.11409	0.1479:0.436:0.0:0.4161	rs8100724;rs17856012;rs17856322;rs60176823;rs8100724	6	P47985	UCRI_HUMAN	A	6	ENSP00000306397:S6A	ENSP00000306397:S6A	S	-	1	0	UQCRFS1	34395850	0.363000	0.24989	0.510000	0.27712	0.005000	0.04900	0.594000	0.24014	-0.304000	0.08843	-1.900000	0.00529	TCC	A|0.065;C|0.935		0.746	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		C	29704010	A	C	29704010	3	2	58	1	0	0	0	0	1	0	0	0	17070	333	12	5	816	5	UQCRFS1	19	29704010	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	8	29704010	29424973	68	11957	116	2									
PPP5C	5536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	46857169	46857169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctggacaagaagtacAtcaagggttattaccgccgg	12	8	1	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:46857169A>T	ENST00000012443.4	+	2	389	c.286A>T	c.(286-288)Atc>Ttc	p.I96F	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	96					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)		CAAGAAGTACATCAAGGGTTA	0.632																																					p.I96F		.											.	PPP5C-227	0			c.A286T						.						38	28	32					19																	46857169		2202	4299	6501	SO:0001583	missense	5536	exon2			AAGTACATCAAGG		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.286A>T	19.37:g.46857169A>T	ENSP00000012443:p.Ile96Phe	Somatic	259	1		WXS	Illumina GAIIx	Phase_I	248	116	NM_006247	0	0	49	92	43	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153725	0.57259	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	T	0.29917	1.55	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.060427	0.64402	D	0.000005	T	0.39708	0.1088	M	0.76838	2.35	0.80722	D	1	P;B	0.45348	0.856;0.11	B;B	0.43052	0.406;0.052	T	0.43909	-0.9362	10	0.56958	D	0.05	-19.2667	13.3443	0.60564	1.0:0.0:0.0:0.0	.	96;96	B2R6R6;P53041	.;PPP5_HUMAN	F	96;83	ENSP00000012443:I96F	ENSP00000012443:I96F	I	+	1	0	PPP5C	51549009	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.043000	0.57354	2.099000	0.63709	0.460000	0.39030	ATC	.		0.632	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		T	46857169	A	T	46857169	3	4	58	1	0	0	0	0	1	0	0	0	12448	217	8	5	292	5	PPP5C	19	46857169	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10	17153159	46857169	12271814	69	11958											
GLTSCR1	29998	hgsc.bcm.edu	37	chr19	48205288	48205288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcatccgcgagctggcGgccgtggaggacgagctgta	18	11	1	0	rs8100472	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr19:48205288G>A	ENST00000396720.3	+	15	4493	c.4299G>A	c.(4297-4299)gcG>gcA	p.A1433A	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1433										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)		GCGAGCTGGCGGCCGTGGAGG	0.771													G|||	514	0.102636	0.2519	0.0548	5008	,	,		5835	0.001		0.0577	False		,,,				2504	0.0859				p.A1433A		.											.	GLTSCR1-48	0			c.G4299A						.	G		266,1774		1,264,755	1	2	2		4299	-3.5	1	19	dbSNP_116	2	222,4724		0,222,2251	no	coding-synonymous	GLTSCR1	NM_015711.3		1,486,3006	AA,AG,GG		4.4885,13.0392,6.9854		1433/1561	48205288	488,6498	1020	2473	3493	SO:0001819	synonymous_variant	29998	exon15			GCTGGCGGCCGTG	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.4299G>A	19.37:g.48205288G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	5	NM_015711	0	0	0	0	0	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																			G|0.917;A|0.083		0.771	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48205288	G	A	48205288	2	1	58	1	0	0	0	0	0	0	0	1	6500	1103	39	1		1	GLTSCR1	19	48205288	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	1348119	48205288	10923695	70	11959											
PYGB	5834	bcgsc.ca	37	chr20	25276297	25276297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggcacaggtggaccaGctgtaccgggtgaggctcct	15	12	0	1	rs1130694	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr20:25276297G>A	ENST00000216962.4	+	19	2480	c.2370G>A	c.(2368-2370)caG>caA	p.Q790Q	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	790					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						AGGTGGACCAGCTGTACCGGG	0.582													G|||	2562	0.511581	0.3729	0.3314	5008	,	,		19374	0.9107		0.4264	False		,,,				2504	0.5031				p.Q790Q		.											.	PYGB-91	0			c.G2370A						.	G	,	1602,2804	494.6+/-363.0	289,1024,890	74	72	73		2370,	1.5	1	20	dbSNP_86	73	3660,4940	524.8+/-380.6	763,2134,1403	no	coding-synonymous,intron	PYGB,ABHD12	NM_002862.3,NM_015600.4	,	1052,3158,2293	AA,AG,GG		42.5581,36.3595,40.4583	,	790/844,	25276297	5262,7744	2203	4300	6503	SO:0001819	synonymous_variant	5834	exon19			GGACCAGCTGTAC		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.2370G>A	20.37:g.25276297G>A		Somatic	269	1		WXS	Illumina GAIIx	Phase_I	301	9	NM_002862	0	0	0	0	0	Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	CCDS13171.1	1160	0.5311355311355311	181	0.3678861788617886	123	0.3397790055248619	530	0.9265734265734266	326	0.43007915567282323	G	9.855	1.194604	0.22037	0.363595	0.425581	ENSG00000100994	ENST00000428458	.	.	.	4.64	1.51	0.23008	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999393846	.	.	.	.	.	.	T	0.16512	-1.0400	3	.	.	.	-24.2095	5.1835	0.15173	0.2442:0.0:0.6053:0.1505	rs1130694;rs1802895;rs2227893;rs2258727;rs3177790;rs3189839;rs11549035;rs1130694	.	.	.	N	209	.	.	S	+	2	0	PYGB	25224297	0.491000	0.26019	0.998000	0.56505	0.988000	0.76386	0.237000	0.17985	0.251000	0.21505	0.561000	0.74099	AGC	G|0.542;A|0.458		0.582	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		A	25276297	G	A	25276297	2	1	58	1	0	0	0	0	0	0	0	1	12905	962	34	3		3	PYGB	20	25276297	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10		25276297	37749223	71	11960											
LIME1	54923	bcgsc.ca	37	chr20	62368925	62368925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgccagtgtcctgggCccctcctgccctctgggttc	14	16	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr20:62368925C>T	ENST00000309546.3	+	2	110	c.23C>T	c.(22-24)gCc>gTc	p.A8V	SLC2A4RG_ENST00000266077.2_5'Flank|RP4-583P15.14_ENST00000467211.1_5'Flank|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	8					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGTCCTGGGCCCCTCCTGCC	0.701																																					p.A8V		.											.	LIME1-44	0			c.C23T						.						12	13	12					20																	62368925		2190	4297	6487	SO:0001583	missense	54923	exon2			CCTGGGCCCCTCC	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.23C>T	20.37:g.62368925C>T	ENSP00000309521:p.Ala8Val	Somatic	172	3		WXS	Illumina GAIIx	Phase_I	200	175	NM_017806	0	0	0	16	16	E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	c	12.47	1.946771	0.34377	.	.	ENSG00000203896	ENST00000444951;ENST00000309546	T	0.57436	0.4	4.18	2.23	0.28157	.	.	.	.	.	T	0.30417	0.0764	N	0.12182	0.205	0.09310	N	1	B	0.30851	0.297	B	0.27170	0.077	T	0.13548	-1.0505	9	0.34782	T	0.22	.	7.4981	0.27500	0.0:0.7027:0.0:0.2973	.	8	Q9H400	LIME1_HUMAN	V	8	ENSP00000309521:A8V	ENSP00000309521:A8V	A	+	2	0	LIME1	61839369	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.589000	0.05767	0.241000	0.21283	0.290000	0.19541	GCC	.		0.701	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		T	62368925	C	T	62368925	3	4	58	1	0	0	0	0	1	0	0	0	8829	739	26	3	25	3	LIME1	20	62368925	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	37092628	62368925	656595	72	11961											
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	46932128	46932128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagcgtgtggcatggctCggaccccaacgggcgcaggc	17	12	0	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr21:46932128C>T	ENST00000359759.4	+	41	5102	c.5081C>T	c.(5080-5082)tCg>tTg	p.S1694L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.S1279L|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.S1459L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1694	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)		TGGCATGGCTCGGACCCCAAC	0.706																																					p.S1456L		.											.	COL18A1-90	0			c.C4367T						.						18	23	21					21																	46932128		2080	4198	6278	SO:0001583	missense	80781	exon42			ATGGCTCGGACCC		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.5081C>T	21.37:g.46932128C>T	ENSP00000352798:p.Ser1694Leu	Somatic	448	0		WXS	Illumina GAIIx	Phase_I	565	47	NM_030582	0	0	278	287	9	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108263|4.108263	0.77096|0.77096	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000423214|ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.|T;T;T;T	.|0.61392	.|0.11;0.11;0.11;0.11	4.07|4.07	4.07|4.07	0.47477|0.47477	.|Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	.|0.154454	.|0.45126	.|U	.|0.000382	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.998;0.998	D|D	0.84442|0.84442	0.0583|0.0583	5|10	.|0.87932	.|D	.|0	.|.	15.1994|15.1994	0.73122|0.73122	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1694;1276;1459;1279	.|P39060;D3DSM4;P39060-1;P39060-2	.|COIA1_HUMAN;.;.;.	W|L	264|1279;1279;1459;1694;1694;627	.|ENSP00000383191:S1279L;ENSP00000347665:S1459L;ENSP00000352798:S1694L;ENSP00000339118:S627L	.|ENSP00000339118:S627L	R|S	+|+	1|2	2|0	COL18A1|COL18A1	45756556|45756556	1.000000|1.000000	0.71417|0.71417	0.862000|0.862000	0.33874|0.33874	0.093000|0.093000	0.18481|0.18481	7.142000|7.142000	0.77339|0.77339	2.002000|2.002000	0.58637|0.58637	0.478000|0.478000	0.44815|0.44815	CGG|TCG	.		0.706	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			T	46932128	C	T	46932128	3	4	58	1	0	0	0	0	1	0	0	0	3682	893	31	1	5352	1	COL18A1	21	46932128	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10		46932128	1197767	73	11962											
ZNRF3	84133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	29444479	29444480	+	Splice_Site	DNP	GG	GG	TT													actgtcggcacaacatcataGgtaactgtcacccgccttag							TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr22:29444479_29444480GG>TT	ENST00000544604.2	+	7	1190	c.1015_1015GG>TT	c.(1015-1017)GGga>TTgga	p.G339L	ZNRF3_ENST00000406323.3_Splice_Site_p.G239L|ZNRF3_ENST00000402174.1_Splice_Site_p.G239L|ZNRF3_ENST00000332811.4_Splice_Site_p.G239L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	339					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						CAACATCATAGGTAACTGTCAC	0.589																																					.		.											.	ZNRF3-69	0			c.1015+1G>T						.																																			SO:0001630	splice_region_variant	84133	exon7			TCATAGGTAACTG	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	Exception_encountered	22.37:g.29444479_29444480delinsTT		Somatic	217	0		WXS	Illumina GAIIx	Phase_I	112	40	NM_001206998	0	0	0	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	DNP	ENST00000544604.2	37	CCDS56225.1																																																																																			.		0.589	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Missense_Mutation	TT	29444480	GG	TT	29444479	5	4	58	1	0	0	0	0	0	0	1	0	18261	1014	35	3	737	3	ZNRF3	22	29444479	Splice_Site	DNP	GG	TCGA-P6-A5OF-01A-11D-A29I-10		29444479	21860087	74	11963											
TNRC6B	23112	broad.mit.edu;bcgsc.ca	37	chr22	40657974	40657974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccgccaagcgccgcccGctacatgcctcgggaggtgc	12	17	0	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chr22:40657974G>A	ENST00000454349.2	+	4	465	c.254G>A	c.(253-255)cGc>cAc	p.R85H	TNRC6B_ENST00000402203.1_Missense_Mutation_p.R121H|TNRC6B_ENST00000301923.9_Missense_Mutation_p.R121H|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R85H	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	85	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AGCGCCGCCCGCTACATGCCT	0.627																																					p.R121H		.											.	TNRC6B-22	0			c.G362A						.						17	22	21					22																	40657974		2003	4168	6171	SO:0001583	missense	23112	exon7			CCGCCCGCTACAT	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.254G>A	22.37:g.40657974G>A	ENSP00000401946:p.Arg85His	Somatic	371	1		WXS	Illumina GAIIx	Phase_I	217	9	NM_001024843	0	0	1	1	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498438	0.96355	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.56366	-0.7991	10	0.72032	D	0.01	-4.9617	20.3213	0.98679	0.0:0.0:1.0:0.0	.	85;85;121	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	H	121;121;85;85;85	ENSP00000306759:R121H;ENSP00000384795:R121H;ENSP00000401946:R85H;ENSP00000338371:R85H	ENSP00000306759:R121H	R	+	2	0	TNRC6B	38987920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.810000	0.96702	0.650000	0.86243	CGC	.		0.627	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				A	40657974	G	A	40657974	3	1	58	1	0	0	0	0	1	0	0	0	16388	1087	38	1	389	1	TNRC6B	22	40657974	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	11213495	40657974	10646592	75	11964											
TBL1X	6907	broad.mit.edu;bcgsc.ca	37	chrX	9656265	9656265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccaaaatccatcgaAgaacagagaggccacggtga	9	12	0	3			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:9656265A>G	ENST00000217964.7	+	7	1206	c.566A>G	c.(565-567)aAg>aGg	p.K189R	TBL1X_ENST00000407597.2_Missense_Mutation_p.K189R|TBL1X_ENST00000424279.1_Missense_Mutation_p.K138R|TBL1X_ENST00000380961.1_Missense_Mutation_p.K138R|TBL1X_ENST00000536365.1_Missense_Mutation_p.K138R	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	189					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AATCCATCGAAGAACAGAGAG	0.627																																					p.K189R		.											.	TBL1X-131	0			c.A566G						.						33	26	28					X																	9656265		2201	4298	6499	SO:0001583	missense	6907	exon7			CATCGAAGAACAG	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.566A>G	X.37:g.9656265A>G	ENSP00000217964:p.Lys189Arg	Somatic	374	1		WXS	Illumina GAIIx	Phase_I	281	8	NM_001139466	0	0	2	2	0	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559872	0.27827	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.56776	0.44;0.54;0.54;0.54;0.44	4.63	4.63	0.57726	.	0.247959	0.39687	N	0.001292	T	0.46229	0.1382	L	0.43923	1.385	0.42123	D	0.991431	B;B	0.27380	0.177;0.177	B;B	0.34489	0.066;0.184	T	0.33828	-0.9853	10	0.14656	T	0.56	.	13.3863	0.60797	1.0:0.0:0.0:0.0	.	152;189	Q59F53;O60907	.;TBL1X_HUMAN	R	189;138;138;138;189	ENSP00000385988:K189R;ENSP00000394097:K138R;ENSP00000445317:K138R;ENSP00000370348:K138R;ENSP00000217964:K189R	ENSP00000217964:K189R	K	+	2	0	TBL1X	9616265	1.000000	0.71417	0.796000	0.32109	0.031000	0.12232	6.446000	0.73460	1.531000	0.49152	0.417000	0.27973	AAG	.		0.627	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		G	9656265	A	G	9656265	3	3	58	1	0	0	0	0	1	0	0	0	15686	72	3	4	580	4	TBL1X	23	9656265	Missense_Mutation	SNP	A	TCGA-P6-A5OF-01A-11D-A29I-10		9656265	145614295	76	11965											
TCEAL6	158931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101395946	101395946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagagtccttgggggaatCgtccgtccccctgtctgttt	12	12	1	1	rs376334850		TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:101395946C>T	ENST00000372774.3	-	3	607	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D120N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D120N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTGGGGGAATCGTCCGTCCCC	0.577																																					p.D120N		.											.	TCEAL6-91	1	Substitution - Missense(1)	central_nervous_system(1)	c.G358A						.	C	ASN/ASP	0,3835		0,0,0,1632,571	100	93	95		358	0.9	0	X		95	1,6727		0,0,1,2428,1871	no	missense	TCEAL6	NM_001006938.2	23	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	120/184	101395946	1,10562	2203	4300	6503	SO:0001583	missense	158931	exon3			GGGAATCGTCCGT	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.358G>A	X.37:g.101395946C>T	ENSP00000361860:p.Asp120Asn	Somatic	307	0		WXS	Illumina GAIIx	Phase_I	170	39	NM_001006938	0	0	94	94	0	Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097651	0.20552	0.0	1.49E-4	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.09911	2.93;2.93	2.75	0.888	0.19206	.	0.000000	0.39834	N	0.001248	T	0.23806	0.0576	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02751	-1.1115	10	0.45353	T	0.12	.	8.034	0.30482	0.0:0.5087:0.4913:0.0	.	120	Q6IPX3-2	.	N	120	ENSP00000361860:D120N;ENSP00000361859:D120N	ENSP00000361859:D120N	D	-	1	0	TCEAL6	101282602	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	-0.652000	0.05366	0.113000	0.18004	0.468000	0.43344	GAT	.		0.577	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		T	101395946	C	T	101395946	3	4	58	1	0	0	0	0	1	0	0	0	15722	884	31	1	197	1	TCEAL6	23	101395946	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	91739681	101395946	53874614	77	11966											
TCEAL3	85012	broad.mit.edu	37	chrX	102864350	102864350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacggacagggggacggacGattcccccaaggactctcag	13	12	1	0			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:102864350G>A	ENST00000372628.1	+	3	716	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D120N|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D120N			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGGGACGGACGATTCCCCCAA	0.567																																					p.D120N		.											.	TCEAL3-90	0			c.G358A						.						131	119	123					X																	102864350		2203	4300	6503	SO:0001583	missense	85012	exon3			ACGGACGATTCCC	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.358G>A	X.37:g.102864350G>A	ENSP00000361711:p.Asp120Asn	Somatic	476	0		WXS	Illumina GAIIx	Phase_I	292	10	NM_001006933	0	0	94	94	0	D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205831	0.58234	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.09911	2.93;2.93;2.93	4.59	4.59	0.56863	.	0.000000	0.40222	N	0.001147	T	0.26304	0.0642	L	0.57536	1.79	0.22581	N	0.998967	D	0.89917	1.0	D	0.91635	0.999	T	0.02491	-1.1151	10	0.37606	T	0.19	.	11.6175	0.51098	0.0:0.0:1.0:0.0	.	120	Q969E4	TCAL3_HUMAN	N	120	ENSP00000361711:D120N;ENSP00000361710:D120N;ENSP00000243286:D120N	ENSP00000243286:D120N	D	+	1	0	TCEAL3	102751006	0.991000	0.36638	0.383000	0.26132	0.681000	0.39784	3.500000	0.53318	2.516000	0.84829	0.538000	0.68166	GAT	.		0.567	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		A	102864350	G	A	102864350	3	1	58	1	0	0	0	0	1	0	0	0	15719	1058	37	1	360	1	TCEAL3	23	102864350	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	1468404	102864350	52406210	78	11967											
IRS4	8471	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	107979158	107979158	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcggtggaatgagcggGgggatcgcggcgccagaggc	21	11	0	2			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:107979158G>T	ENST00000372129.2	-	1	493	c.417C>A	c.(415-417)ccC>ccA	p.P139P	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	139	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATGAGCGGGGGGATCGCGG	0.642																																					p.P139P		.											.	IRS4-623	0			c.C417A						.						25	24	24					X																	107979158		2197	4288	6485	SO:0001819	synonymous_variant	8471	exon1			GAGCGGGGGGATC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.417C>A	X.37:g.107979158G>T		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	47	17	NM_003604	0	0	0	0	0		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			.		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107979158	G	T	107979158	2	4	58	1	0	0	0	0	0	0	0	1	7869	1219	43	3		3	IRS4	23	107979158	Silent	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	5114808	107979158	47291402	79	11968											
NDUFA1	4694	broad.mit.edu	37	chrX	119007288	119007288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaagggttgctcattttGggtatcactggagtctgatg	12	5	3	1			TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:119007288G>T	ENST00000371437.4	+	2	549	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	42					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TGCTCATTTTGGGTATCACTG	0.393																																					p.G42W		.											.	NDUFA1-193	0			c.G124T						.						162	142	149					X																	119007288		2203	4300	6503	SO:0001583	missense	4694	exon2			CATTTTGGGTATC		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"Mitochondrial respiratory chain complex / Complex I"	7683	protein-coding gene	gene with protein product	"NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit"	300078	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.124G>T	X.37:g.119007288G>T	ENSP00000360492:p.Gly42Trp	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	99	4	NM_004541	0	0	627	627	0		Missense_Mutation	SNP	ENST00000371437.4	37	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	2.227	-0.376972	0.05000	.	.	ENSG00000125356	ENST00000371437	T	0.72051	-0.62	4.88	-8.61	0.00885	.	1.740220	0.03102	N	0.161307	T	0.54464	0.1860	.	.	.	0.09310	N	1	P	0.42785	0.79	B	0.39660	0.306	T	0.60250	-0.7300	9	0.59425	D	0.04	20.8417	2.0644	0.03599	0.203:0.1786:0.4015:0.2169	.	42	O15239	NDUA1_HUMAN	W	42	ENSP00000360492:G42W	ENSP00000360492:G42W	G	+	1	0	NDUFA1	118891316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.533000	0.02215	-3.116000	0.00240	-1.612000	0.00800	GGG	.		0.393	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		T	119007288	G	T	119007288	3	4	58	1	0	0	0	0	1	0	0	0	10298	1348	47	3	130	3	NDUFA1	23	119007288	Missense_Mutation	SNP	G	TCGA-P6-A5OF-01A-11D-A29I-10	11028130	119007288	36263272	80	11969											
MAGEA3	4102	bcgsc.ca	37	chrX	151935712	151935712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggaactggaagctttgCtgaagatcacaggaaagaaa	12	6	1	3	rs61744011	byFrequency	TCGA-P6-A5OF-01A-11D-A29I-10	TCGA-P6-A5OF-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8949a62c-41ca-4e16-94a2-348838d35055	29f21b2f-1b0d-47d0-b2c7-c423fb460fa1	g.chrX:151935712C>A	ENST00000393902.3	-	3	1022	c.455G>T	c.(454-456)aGc>aTc	p.S152I	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S152I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	152	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGCTTTGCTGAAGATCAC	0.537																																					p.S152I		.											.	MAGEA3-90	0			c.G455T						.						138	123	128					X																	151935712		2203	4293	6496	SO:0001583	missense	4102	exon3			GCTTTGCTGAAGA		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.455G>T	X.37:g.151935712C>A	ENSP00000377480:p.Ser152Ile	Somatic	674	17		WXS	Illumina GAIIx	Phase_I	378	28	NM_005362	0	0	0	0	0	Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	5.545	0.285489	0.10513	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.05081	3.5;3.5;3.5	1.42	-1.91	0.07641	.	1.536110	0.03025	N	0.151241	T	0.17831	0.0428	M	0.74881	2.28	0.09310	N	1	D	0.53619	0.961	P	0.57846	0.828	T	0.20405	-1.0276	10	0.41790	T	0.15	.	4.9877	0.14198	0.0:0.3789:0.0:0.6211	.	152	P43357	MAGA3_HUMAN	I	152	ENSP00000359301:S152I;ENSP00000377480:S152I;ENSP00000392758:S152I	ENSP00000359301:S152I	S	-	2	0	MAGEA3	151686368	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.557000	0.05985	-0.772000	0.04602	0.358000	0.22013	AGC	C|0.995;A|0.005		0.537	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		A	151935712	C	A	151935712	3	1	58	1	0	0	0	0	1	0	0	0	9203	797	28	3	493	3	MAGEA3	23	151935712	Missense_Mutation	SNP	C	TCGA-P6-A5OF-01A-11D-A29I-10	32928424	151935712	3334848	81	11970											
ARHGEF16	27237	ucsc.edu;bcgsc.ca	37	chr1	3395174	3395174	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctctcctcggactcCgcgtaagtgggctcccggga	12	16	1	0	rs61734742	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:3395174C>A	ENST00000378378.4	+	12	2217	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	ARHGEF16_ENST00000378373.1_Silent_p.S316S|ARHGEF16_ENST00000378371.2_Silent_p.S316S|ARHGEF16_ENST00000413250.2_Silent_p.S308S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	604	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCGGACTCCGCGTAAGTGG	0.682													C|||	457	0.091254	0.0061	0.1427	5008	,	,		14942	0.1935		0.0577	False		,,,				2504	0.0992				p.S604S		.											.	ARHGEF16-228	0			c.C1812A						.	C		85,4283	64.7+/-102.0	1,83,2100	24	28	27		1812	-8.6	0.2	1	dbSNP_129	27	587,7971	147.1+/-202.6	20,547,3712	no	coding-synonymous	ARHGEF16	NM_014448.3		21,630,5812	AA,AC,CC		6.8591,1.946,5.1988		604/710	3395174	672,12254	2184	4279	6463	SO:0001819	synonymous_variant	27237	exon12			GGACTCCGCGTAA	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1812C>A	1.37:g.3395174C>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	64	7	NM_014448	0	0	0	0	0	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																			C|0.938;A|0.062		0.682	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3395174	C	A	3395174	2	1	59	1	0	0	0	0	0	0	0	1	899	639	23	2		2	ARHGEF16	1	3395174	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		3395174	245855447	1	11971											
PEX14	5195	bcgsc.ca	37	chr1	10596341	10596341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaaccaggagagcattCctaaagaagaaaggtacagg	11	8	0	3	rs12375	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:10596341C>T	ENST00000356607.4	+	3	236	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_3'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	52					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGAGCATTCCTAAAGAAGA	0.562													C|||	1142	0.228035	0.0658	0.4265	5008	,	,		16571	0.2004		0.3141	False		,,,				2504	0.2464				p.F52F		.											.	PEX14-90	0			c.C156T						.	C		472,3934	220.7+/-238.1	30,412,1761	52	50	51		156	3.4	1	1	dbSNP_52	51	2770,5830	432.8+/-357.2	469,1832,1999	no	coding-synonymous	PEX14	NM_004565.2		499,2244,3760	TT,TC,CC		32.2093,10.7127,24.927		52/378	10596341	3242,9764	2203	4300	6503	SO:0001819	synonymous_variant	5195	exon3			AGCATTCCTAAAG	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.156C>T	1.37:g.10596341C>T		Somatic	273	0		WXS	Illumina GAIIx	Phase_I	172	8	NM_004565	0	0	0	0	0	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	CCDS30582.1																																																																																			C|0.770;T|0.230		0.562	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			T	10596341	C	T	10596341	2	4	59	1	0	0	0	0	0	0	0	1	11781	854	30	3		3	PEX14	1	10596341	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	7201167	10596341	238654280	2	11972											
MTHFR	4524	bcgsc.ca	37	chr1	11850927	11850927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatacagctttccccacCgctcaatccacagggcaaag	6	17	2	0	rs2274976	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:11850927C>T	ENST00000376592.1	-	11	1909	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R594Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R635Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R635Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTTTCCCCACCGCTCAATCCA	0.557													C|||	373	0.0744808	0.0227	0.0418	5008	,	,		19254	0.1181		0.0338	False		,,,				2504	0.1646				p.R594Q		.											.	MTHFR-90	0			c.G1781A	GRCh37	CM056008	MTHFR	M	rs2274976	.	C	GLN/ARG	131,4275	95.3+/-134.0	1,129,2073	181	162	168		1781	3	1	1	dbSNP_100	168	397,8203	127.3+/-185.7	6,385,3909	yes	missense	MTHFR	NM_005957.4	43	7,514,5982	TT,TC,CC		4.6163,2.9732,4.0597	benign	594/657	11850927	528,12478	2203	4300	6503	SO:0001583	missense	4524	exon12			CCCCACCGCTCAA	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1781G>A	1.37:g.11850927C>T	ENSP00000365777:p.Arg594Gln	Somatic	199	3		WXS	Illumina GAIIx	Phase_I	260	9	NM_005957	0	0	0	0	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	112	0.05128205128205128	10	0.02032520325203252	16	0.04419889502762431	57	0.09965034965034965	29	0.03825857519788918	C	8.813	0.935719	0.18206	0.029732	0.046163	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.80909	-1.43;-1.42;-1.43;-1.42	5.31	2.99	0.34606	.	0.104915	0.64402	N	0.000002	T	0.01454	0.0047	N	0.00517	-1.405	0.42732	P	0.006286000000000014	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26326	-1.0106	9	0.02654	T	1	.	9.1481	0.36946	0.0:0.1498:0.0:0.8502	rs2274976;rs17854807;rs52829200;rs58316272;rs2274976	594;635	P42898;Q5SNW6	MTHR_HUMAN;.	Q	594;635;594;635	ENSP00000365777:R594Q;ENSP00000365767:R635Q;ENSP00000365775:R594Q;ENSP00000365770:R635Q	ENSP00000365767:R635Q	R	-	2	0	MTHFR	11773514	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.211000	0.51137	0.336000	0.23639	-0.415000	0.06103	CGG	C|0.949;T|0.051		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		T	11850927	C	T	11850927	3	4	59	1	0	0	0	0	1	0	0	0	9969	652	23	1	193	1	MTHFR	1	11850927	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1254586	11850927	237399694	3	11973											
HNRNPCL1	343069	ucsc.edu;bcgsc.ca	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagctggtcatcccccTgatcttcattaacatcatca	4	15	5	1	rs74587302|rs559905244	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	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		.											.	HNRNPCL1-68	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	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	59	10	NM_001013631	0	0	0	0	0	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	59	1	0	0	0	0	1	0	0	0	7290	1580	55	4	98	4	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	1056431	12907358	236343263	4	11974											
AGMAT	79814	ucsc.edu;bcgsc.ca	37	chr1	15909850	15909850	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctaggattgactgtccCaagcatcactgattcttccc	8	13	2	2	rs6429757	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:15909850C>G	ENST00000375826.3	-	2	455	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	105			G -> R (in dbSNP:rs6429757). {ECO:0000269|PubMed:11804860, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTGACTGTCCCAAGCATCACT	0.527													G|||	3171	0.633187	0.9017	0.5274	5008	,	,		18672	0.6359		0.5288	False		,,,				2504	0.4499				p.G105R	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.G313C						.	G	ARG/GLY	3749,657	279.0+/-274.6	1598,553,52	63	57	59		313	-1.4	0	1	dbSNP_116	59	4755,3845	541.2+/-384.0	1338,2079,883	yes	missense	AGMAT	NM_024758.4	125	2936,2632,935	GG,GC,CC		44.7093,14.9115,34.6148	benign	105/353	15909850	8504,4502	2203	4300	6503	SO:0001583	missense	79814	exon2			CTGTCCCAAGCAT	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.313G>C	1.37:g.15909850C>G	ENSP00000364986:p.Gly105Arg	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	70	7	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	1383	0.6332417582417582	428	0.8699186991869918	193	0.5331491712707183	344	0.6013986013986014	418	0.5514511873350924	G	0.008	-1.909524	0.00508	0.850885	0.552907	ENSG00000116771	ENST00000375826	D	0.84800	-1.9	5.13	-1.41	0.08941	Ureohydrolase domain (1);	0.051023	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00405	-1.535	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	9	0.02654	T	1	-8.5468	3.7841	0.08692	0.0764:0.1895:0.3075:0.4267	rs6429757;rs17856129;rs56615894;rs6429757	105	Q9BSE5	SPEB_HUMAN	R	105	ENSP00000364986:G105R	ENSP00000364986:G105R	G	-	1	0	AGMAT	15782437	0.997000	0.39634	0.010000	0.14722	0.138000	0.21146	0.598000	0.24074	-0.321000	0.08627	-0.986000	0.02555	GGG	C|0.348;G|0.652		0.527	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		G	15909850	C	G	15909850	3	3	59	1	0	0	0	0	1	0	0	0	385	594	21	3	769	3	AGMAT	1	15909850	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	3002492	15909850	233340771	5	11975											
WASF2	10163	broad.mit.edu;bcgsc.ca	37	chr1	27736665	27736665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggatcttttgggtccaGccaaaccagatcctctttgg	9	12	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:27736665G>A	ENST00000430629.2	-	8	1075	c.860C>T	c.(859-861)gCt>gTt	p.A287V	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	287					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)		TTTGGGTCCAGCCAAACCAGA	0.517																																					p.A287V		.											.	WASF2-228	0			c.C860T						.						50	51	50					1																	27736665		2203	4300	6503	SO:0001583	missense	10163	exon8			GGTCCAGCCAAAC	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.860C>T	1.37:g.27736665G>A	ENSP00000396211:p.Ala287Val	Somatic	68	1		WXS	Illumina GAIIx	Phase_I	105	25	NM_006990	0	0	0	0	0	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.512460	0.44660	.	.	ENSG00000158195	ENST00000430629	T	0.45276	0.9	4.16	3.25	0.37280	.	0.682031	0.13509	N	0.382617	T	0.28896	0.0717	L	0.39898	1.24	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08106	-1.0738	10	0.21014	T	0.42	-2.0245	4.6268	0.12482	0.2052:0.2493:0.5455:0.0	.	287	Q9Y6W5	WASF2_HUMAN	V	287	ENSP00000396211:A287V	ENSP00000396211:A287V	A	-	2	0	WASF2	27609252	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.209000	0.32357	0.971000	0.38288	0.443000	0.29094	GCT	.		0.517	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		A	27736665	G	A	27736665	3	1	59	1	0	0	0	0	1	0	0	0	17302	971	34	3	644	3	WASF2	1	27736665	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	11826815	27736665	221513956	6	11976											
OPRD1	4985	hgsc.bcm.edu	37	chr1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcctaccctagcgcctGccccagcgctggcgccaatg	12	18	0	0	rs1042114	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		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)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4	6	5	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	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.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29138975	G	T	29138975	3	4	59	1	0	0	0	0	1	0	0	0	10923	1319	46	3	82	3	OPRD1	1	29138975	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1402310	29138975	220111646	7	11977											
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	39920766	39920766	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccttatcgctgagcaTcaggtatcttaacctcactg	7	12	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:39920766T>A	ENST00000372915.3	+	88	20856	c.20769T>A	c.(20767-20769)caT>caA	p.H6923Q	MACF1_ENST00000564288.1_Missense_Mutation_p.H7024Q|MACF1_ENST00000545844.1_Missense_Mutation_p.H4965Q|MACF1_ENST00000317713.7_Missense_Mutation_p.H4965Q|MACF1_ENST00000361689.2_Missense_Mutation_p.H4965Q|MACF1_ENST00000567887.1_Missense_Mutation_p.H7061Q|MACF1_ENST00000289893.4_Missense_Mutation_p.H5467Q|MACF1_ENST00000539005.1_Missense_Mutation_p.H4835Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6923					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)			TCGCTGAGCATCAGGTATCTT	0.493																																					p.H4965Q		.											.	MACF1-165	0			c.T14895A						.						125	107	113					1																	39920766		2203	4300	6503	SO:0001583	missense	23499	exon86			TGAGCATCAGGTA	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.20769T>A	1.37:g.39920766T>A	ENSP00000362006:p.His6923Gln	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	115	8	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.6|21.6|21.6	4.168454|4.168454|4.168454	0.78339|0.78339|0.78339	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000360115|ENST00000372925	T;T;T;T;T;T|.|.	0.58940|.|.	0.95;0.95;0.95;0.3;0.95;0.95|.|.	5.63|5.63|5.63	2.0|2.0|2.0	0.26442|0.26442|0.26442	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000006|.|.	T|T|T	0.73799|0.73799|0.73799	0.3633|0.3633|0.3633	M|M|M	0.86420|0.86420|0.86420	2.815|2.815|2.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	0.999;1.0|.|.	D;D|.|.	0.91635|.|.	0.997;0.999|.|.	T|T|T	0.72697|0.72697|0.72697	-0.4215|-0.4215|-0.4215	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	8.5531|8.5531|8.5531	0.33465|0.33465|0.33465	0.0:0.4224:0.0:0.5776|0.0:0.4224:0.0:0.5776|0.0:0.4224:0.0:0.5776	.|.|.	6923;4965|.|.	Q9UPN3;F8W8Q1|.|.	MACF1_HUMAN;.|.|.	Q|N|T	4965;6923;4965;4965;4835;5467|67|3969	ENSP00000439537:H4965Q;ENSP00000362006:H6923Q;ENSP00000354573:H4965Q;ENSP00000313438:H4965Q;ENSP00000444364:H4835Q;ENSP00000289893:H5467Q|.|.	ENSP00000289893:H5467Q|.|.	H|I|S	+|+|+	3|2|1	2|0|0	MACF1|MACF1|MACF1	39693353|39693353|39693353	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.938000|0.938000|0.938000	0.57974|0.57974|0.57974	1.204000|1.204000|1.204000	0.32296|0.32296|0.32296	0.423000|0.423000|0.423000	0.26033|0.26033|0.26033	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATC|TCA	.		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39920766	T	A	39920766	3	1	59	1	0	0	0	0	1	0	0	0	9180	1432	50	5	21384	5	MACF1	1	39920766	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	10781791	39920766	209329855	8	11978											
KDM4A	9682	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	44134891	44134891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagcagtatgagatgacGgagtgcccggcagccctcgc	14	12	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:44134891G>A	ENST00000372396.3	+	10	1418	c.1284G>A	c.(1282-1284)acG>acA	p.T428T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	428					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)			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						ATGAGATGACGGAGTGCCCGG	0.542																																					p.T428T		.											.	KDM4A-227	0			c.G1284A						.						146	140	142					1																	44134891		2203	4300	6503	SO:0001819	synonymous_variant	9682	exon10			GATGACGGAGTGC	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.1284G>A	1.37:g.44134891G>A		Somatic	210	1		WXS	Illumina GAIIx	Phase_I	305	65	NM_014663	0	0	0	0	0	Q5VVB1	Silent	SNP	ENST00000372396.3	37	CCDS491.1																																																																																			.		0.542	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		A	44134891	G	A	44134891	2	1	59	1	0	0	0	0	0	0	0	1	8155	1103	39	1		1	KDM4A	1	44134891	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	4214125	44134891	205115730	9	11979											
FOXD2	2306	hgsc.bcm.edu	37	chr1	47904909	47904909	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgccaaagccttctacGcggcgtccctgagtcctccc	10	18	1	1	rs2405913	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:47904909G>C	ENST00000334793.5	+	1	3221	c.1102G>C	c.(1102-1104)Gcg>Ccg	p.A368P		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	368	Ala-rich.|Gly-rich.		A -> P (in dbSNP:rs2405913). {ECO:0000269|PubMed:9403061}.		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		AGCCTTCTACGCGGCGTCCCT	0.776													C|||	5006	0.999601	0.9985	1	5008	,	,		8227	1		1	False		,,,				2504	1				p.A368P		.											.	FOXD2-226	0			c.G1102C						.						2	3	2					1																	47904909		1345	2971	4316	SO:0001583	missense	2306	exon1			TTCTACGCGGCGT	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.1102G>C	1.37:g.47904909G>C	ENSP00000335493:p.Ala368Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_004474	0	0	0	0	0	Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	CCDS30708.1	2181	0.9986263736263736	489	0.9939024390243902	362	1.0	572	1.0	758	1.0	C	0.800	-0.755720	0.03019	.	.	ENSG00000186564	ENST00000334793	D	0.93547	-3.24	4.4	3.48	0.39840	.	.	.	.	.	T	0.00012	0.0000	N	0.00210	-1.845	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.42515	-0.9447	8	0.02654	T	1	.	4.1889	0.10411	0.1624:0.5916:0.1573:0.0887	rs2405913;rs2405913	368	O60548	FOXD2_HUMAN	P	368	ENSP00000335493:A368P	ENSP00000335493:A368P	A	+	1	0	FOXD2	47677496	0.000000	0.05858	0.905000	0.35620	0.496000	0.33645	0.098000	0.15189	0.309000	0.22966	-0.978000	0.02582	GCG	G|0.835;C|0.165		0.776	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		C	47904909	G	C	47904909	3	2	59	1	0	0	0	0	1	0	0	0	6019	1087	38	2	1104	2	FOXD2	1	47904909	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	3770018	47904909	201345712	10	11980											
NFIA	4774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	61554105	61554106	+	Missense_Mutation	DNP	TC	TC	AT													aaaaaacctccatgttgtgtTctttccaacccagaccagaa							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:61554105_61554106TC>AT	ENST00000403491.3	+	2	796_797	c.312_313TC>AT	c.(310-315)gtTCtt>gtATtt	p.L105F	NFIA_ENST00000371185.2_Missense_Mutation_p.L105F|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.L105F|NFIA_ENST00000371191.1_Missense_Mutation_p.L128F|NFIA_ENST00000371189.4_Missense_Mutation_p.L150F|NFIA_ENST00000407417.3_Missense_Mutation_p.L97F|NFIA_ENST00000371187.3_Missense_Mutation_p.L105F|NFIA_ENST00000371184.2_Missense_Mutation_p.L105F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	105					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CATGTTGTGTTCTTTCCAACCC	0.455																																					p.L150F		.											.	NFIA-92	0			c.C448T						.																																			SO:0001583	missense	4774	exon3			TGTGTTCTTTCCA	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	Exception_encountered	1.37:g.61554105_61554106delinsAT	ENSP00000384523:p.Leu105Phe	Somatic	198	0		WXS	Illumina GAIIx	Phase_I	143	0	NM_001145512	0	0	0	0	0	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	DNP	ENST00000403491.3	37	CCDS44156.1																																																																																			.		0.455	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		AT	61554106	TC	AT	61554105	3	1	59	1	0	0	0	0	1	0	0	0	10409	1770	62	5	464	5	NFIA	1	61554105	Missense_Mutation	DNP	TC	TCGA-P6-A5OH-01A-11D-A30A-10	13649196	61554105	187696516	11	11981											
ADAMTSL4	54507	bcgsc.ca	37	chr1	150526044	150526044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcttctagaggggaagagGctattccgtcccctactcca	9	13	2	2	rs41317515	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:150526044G>C	ENST00000369038.2	+	4	778	c.577G>C	c.(577-579)Gct>Cct	p.A193P	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A193P|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A193P|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A193P			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	193			A -> P (in dbSNP:rs41317515). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGGGAAGAGGCTATTCCGTC	0.607													C|||	2646	0.528355	0.6074	0.4337	5008	,	,		15288	0.5675		0.5338	False		,,,				2504	0.4427				p.A193P		.											.	ADAMTSL4-92	0			c.G577C						.	C	PRO/ALA,PRO/ALA	2600,1806	530.3+/-372.9	787,1026,390	118	115	116		577,577	-4.6	0	1	dbSNP_127	116	4515,4085	561.1+/-387.7	1178,2159,963	yes	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	27,27	1965,3185,1353	CC,CG,GG		47.5,40.9896,45.2945	benign,benign	193/1075,193/878	150526044	7115,5891	2203	4300	6503	SO:0001583	missense	54507	exon6			GAAGAGGCTATTC	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.577G>C	1.37:g.150526044G>C	ENSP00000358034:p.Ala193Pro	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	186	8	NM_019032	0	0	0	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	1217	0.5572344322344323	295	0.5995934959349594	177	0.4889502762430939	319	0.5576923076923077	426	0.5620052770448549	C	0.516	-0.864147	0.02590	0.590104	0.525	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.63255	0.05;-0.03;0.23;-0.03	3.65	-4.57	0.03421	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11641	-1.0579	8	0.28530	T	0.3	.	3.1698	0.06549	0.1886:0.2054:0.4843:0.1217	rs41317515;rs59910312;rs61819441	193;193;193	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	P	193	ENSP00000358037:A193P;ENSP00000271643:A193P;ENSP00000358035:A193P;ENSP00000358034:A193P	ENSP00000271643:A193P	A	+	1	0	ADAMTSL4	148792668	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.494000	0.02296	-1.085000	0.03088	-1.087000	0.02190	GCT	G|0.456;C|0.544		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		C	150526044	G	C	150526044	3	2	59	1	0	0	0	0	1	0	0	0	277	1203	42	3	591	3	ADAMTSL4	1	150526044	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	88971939	150526044	98724577	12	11982											
FLG	2312	bcgsc.ca	37	chr1	152280782	152280782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattgttccttgtcatAtgtttttctgcttgcacttc	6	10	2	1	rs2184953	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:152280782A>G	ENST00000368799.1	-	3	6615	c.6580T>C	c.(6580-6582)Tat>Cat	p.Y2194H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2194	Ser-rich.		Y -> H (in dbSNP:rs2184953).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCATATGTTTTTCTG	0.547									Ichthyosis				-|||	2703	0.539736	0.7897	0.4683	5008	,	,		29126	0.6607		0.1759	False		,,,				2504	0.502				p.Y2194H		.											.	FLG-106	0			c.T6580C						.						483	407	432					1																	152280782		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGTCATATGTTTT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6580T>C	1.37:g.152280782A>G	ENSP00000357789:p.Tyr2194His	Somatic	219	2		WXS	Illumina GAIIx	Phase_I	241	9	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1006	0.4606227106227106	366	0.7439024390243902	142	0.39226519337016574	362	0.6328671328671329	136	0.17941952506596306	g	2.593	-0.294672	0.05568	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.99	-5.98	0.02220	.	.	.	.	.	T	0.00241	0.0007	N	0.02011	-0.69	0.80722	P	0.0	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	8	0.45353	T	0.12	.	4.3415	0.11112	0.287:0.0:0.31:0.403	rs2184953;rs2184953	2194	P20930	FILA_HUMAN	H	2194	ENSP00000357789:Y2194H	ENSP00000357789:Y2194H	Y	-	1	0	FLG	150547406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.749000	0.00793	-2.890000	0.00315	-2.627000	0.00155	TAT	A|0.532;G|0.468		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152280782	A	G	152280782	3	3	59	1	0	0	0	0	1	0	0	0	5944	449	16	4	5609	4	FLG	1	152280782	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	1754738	152280782	96969839	13	11983											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	59	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	952919	153233701	96016920	14	11984											
GATAD2B	57459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	153800736	153800736	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccctccattttgagtcgctTtgccaggacatcatctcgct	7	15	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:153800736T>A	ENST00000368655.4	-	2	331	c.88A>T	c.(88-90)Aag>Tag	p.K30*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	30					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGAGTCGCTTTGCCAGGACA	0.473																																					p.K30X		.											.	GATAD2B-90	0			c.A88T						.						154	145	148					1																	153800736		2203	4300	6503	SO:0001587	stop_gained	57459	exon2			GTCGCTTTGCCAG	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.88A>T	1.37:g.153800736T>A	ENSP00000357644:p.Lys30*	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	51	17	NM_020699	0	0	0	0	0	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	37	6.571382	0.97671	.	.	ENSG00000143614	ENST00000368655	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.3192	15.5757	0.76380	0.0:0.0:0.0:1.0	.	.	.	.	X	30	.	ENSP00000357644:K30X	K	-	1	0	GATAD2B	152067360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.320000	0.78422	0.528000	0.53228	AAG	.		0.473	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		A	153800736	T	A	153800736	4	1	59	1	0	0	0	0	0	1	0	0	6286	1850	64	5	1733	5	GATAD2B	1	153800736	Nonsense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	567035	153800736	95449885	15	11985											
NUP210L	91181	hgsc.bcm.edu	37	chr1	154067601	154067601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccttcacagactgccatGtcaccaatgccacttccaca	4	16	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:154067601G>T	ENST00000368559.3	-	15	2068	c.1997C>A	c.(1996-1998)aCa>aAa	p.T666K	NUP210L_ENST00000271854.3_Missense_Mutation_p.T666K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	666					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)			AGACTGCCATGTCACCAATGC	0.403																																					p.T666K		.											.	NUP210L-77	0			c.C1997A						.						77	73	74					1																	154067601		1844	4084	5928	SO:0001583	missense	91181	exon15			TGCCATGTCACCA	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.1997C>A	1.37:g.154067601G>T	ENSP00000357547:p.Thr666Lys	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	56	4	NM_001159484	0	0	0	0	0	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600544	0.87055	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23348	1.91;1.91	5.63	5.63	0.86233	.	0.095453	0.45867	D	0.000321	T	0.40222	0.1108	M	0.67397	2.05	0.38505	D	0.948312	D;D	0.69078	0.997;0.995	P;P	0.61874	0.895;0.82	T	0.28073	-1.0055	10	0.72032	D	0.01	-5.1911	17.4736	0.87653	0.0:0.0:1.0:0.0	.	666;666	E7EP56;Q5VU65	.;P210L_HUMAN	K	666	ENSP00000357547:T666K;ENSP00000271854:T666K	ENSP00000271854:T666K	T	-	2	0	NUP210L	152334225	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.870000	0.69620	2.657000	0.90304	0.555000	0.69702	ACA	.		0.403	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154067601	G	T	154067601	3	4	59	1	0	0	0	0	1	0	0	0	10800	1377	48	3	3773	3	NUP210L	1	154067601	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	266865	154067601	95183020	16	11986											
CADM3	57863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159170626	159170626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatgaggcaaaaggctccGacgatgctccagacgcggac	12	13	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:159170626G>A	ENST00000368125.4	+	9	1268	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D405N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	371					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.D405N(1)|p.D405H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAAAGGCTCCGACGATGCTCC	0.572																																					p.D405N		.											.	CADM3-92	2	Substitution - Missense(2)	lung(1)|breast(1)	c.G1213A						.						94	87	90					1																	159170626		2203	4300	6503	SO:0001583	missense	57863	exon10			GGCTCCGACGATG	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1111G>A	1.37:g.159170626G>A	ENSP00000357107:p.Asp371Asn	Somatic	343	0		WXS	Illumina GAIIx	Phase_I	392	114	NM_021189	0	0	0	0	0	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422049	0.62622	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.56776	0.44;0.45	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.66137	0.2759	M	0.83603	2.65	0.58432	D	0.999999	D;B	0.89917	1.0;0.14	D;B	0.71414	0.973;0.013	T	0.71813	-0.4479	10	0.59425	D	0.04	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	371;405	Q8N126;Q8N126-2	CADM3_HUMAN;.	N	405;371	ENSP00000357106:D405N;ENSP00000357107:D371N	ENSP00000357106:D405N	D	+	1	0	CADM3	157437250	1.000000	0.71417	0.976000	0.42696	0.857000	0.48899	7.173000	0.77612	1.965000	0.57142	0.591000	0.81541	GAC	.		0.572	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		A	159170626	G	A	159170626	3	1	59	1	0	0	0	0	1	0	0	0	2575	1058	37	1	1251	1	CADM3	1	159170626	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	5103025	159170626	90079995	17	11987											
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	167095939	167095939	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatgaggacagcgtggGctctgaggccagttccttct	15	9	2	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:167095939G>C	ENST00000361200.2	+	6	1737	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	DUSP27_ENST00000443333.1_Missense_Mutation_p.G524A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G524A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	524					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACAGCGTGGGCTCTGAGGCC	0.557																																					p.G524A		.											.	DUSP27-71	0			c.G1571C						.						81	76	77					1																	167095939		2203	4300	6503	SO:0001583	missense	92235	exon5			GCGTGGGCTCTGA	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1571G>C	1.37:g.167095939G>C	ENSP00000354483:p.Gly524Ala	Somatic	397	0		WXS	Illumina GAIIx	Phase_I	477	28	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.076859	0.00035	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02737	4.18;4.18;4.18	5.09	0.923	0.19413	.	1.797320	0.03056	N	0.155306	T	0.00300	0.0009	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	10	0.02654	T	1	-0.0025	5.0098	0.14306	0.0:0.2868:0.3321:0.3812	.	524	Q5VZP5	DUS27_HUMAN	A	524	ENSP00000354483:G524A;ENSP00000271385:G524A;ENSP00000404874:G524A	ENSP00000271385:G524A	G	+	2	0	DUSP27	165362563	0.026000	0.19158	0.011000	0.14972	0.189000	0.23516	0.874000	0.28065	-0.096000	0.12329	-0.196000	0.12772	GGC	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167095939	G	C	167095939	3	2	59	1	0	0	0	0	1	0	0	0	4838	1203	42	3	1589	3	DUSP27	1	167095939	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	7925313	167095939	82154682	18	11988											
TNR	7143	broad.mit.edu	37	chr1	175375841	175375841	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaaccactgtttccccatCtgcccccatcctctcagcca	4	20	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:175375841C>G	ENST00000367674.2	-	3	718	c.10G>C	c.(10-12)Gat>Cat	p.D4H	TNR_ENST00000263525.2_Missense_Mutation_p.D4H			Q92752	TENR_HUMAN	tenascin R	4					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTTCCCCATCTGCCCCCATC	0.532																																					p.D4H		.											.	TNR-324	0			c.G10C						.						108	102	104					1																	175375841		2203	4300	6503	SO:0001583	missense	7143	exon3			CCCCATCTGCCCC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.10G>C	1.37:g.175375841C>G	ENSP00000356646:p.Asp4His	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	113	4	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196899	0.58126	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27557	1.66;1.66	5.56	5.56	0.83823	.	0.356365	0.29791	N	0.011182	T	0.36110	0.0955	L	0.27053	0.805	0.46499	D	0.99907	D;P	0.58620	0.983;0.778	P;B	0.51487	0.671;0.299	T	0.16070	-1.0415	10	0.87932	D	0	.	19.1256	0.93382	0.0:1.0:0.0:0.0	.	4;4	B4DIX8;Q92752	.;TENR_HUMAN	H	4	ENSP00000356646:D4H;ENSP00000263525:D4H	ENSP00000263525:D4H	D	-	1	0	TNR	173642464	0.996000	0.38824	0.397000	0.26308	0.997000	0.91878	3.983000	0.56916	2.609000	0.88269	0.561000	0.74099	GAT	.		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		G	175375841	C	G	175375841	3	3	59	1	0	0	0	0	1	0	0	0	16385	913	32	3	4150	3	TNR	1	175375841	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	8279902	175375841	73874780	19	11989											
IER5	51278	hgsc.bcm.edu	37	chr1	181058313	181058313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgcccgccgctcGtgcctcttggccggagaccg	13	21	1	1	rs3747955	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:181058313G>A	ENST00000367577.4	+	1	676	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	92			R -> H (in dbSNP:rs3747955). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						cccgccgcTCGTGCCTCTTGG	0.801													G|||	2220	0.443291	0.2489	0.4452	5008	,	,		6443	0.6002		0.3777	False		,,,				2504	0.6104				p.R92H		.											.	IER5-227	0			c.G275A						.	G	HIS/ARG	975,3037		142,691,1173	5	6	6		275	-1.2	0	1	dbSNP_107	6	2425,5403		398,1629,1887	no	missense	IER5	NM_016545.4	29	540,2320,3060	AA,AG,GG		30.9785,24.3021,28.7162	benign	92/328	181058313	3400,8440	2006	3914	5920	SO:0001583	missense	51278	exon1			CCGCTCGTGCCTC	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.275G>A	1.37:g.181058313G>A	ENSP00000356549:p.Arg92His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	20	20	NM_016545	0	0	0	0	0	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	943	0.4317765567765568	134	0.27235772357723576	158	0.43646408839779005	358	0.6258741258741258	293	0.3865435356200528	G	2.870	-0.234111	0.05983	0.243021	0.309785	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.10668	2.85	3.62	-1.18	0.09617	.	0.978663	0.08289	U	0.968738	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.15719	0.014	B	0.14578	0.011	T	0.36407	-0.9749	9	0.15066	T	0.55	.	7.4605	0.27291	0.1106:0.5642:0.3252:0.0	rs3747955	92	Q5VY09	IER5_HUMAN	H	92	ENSP00000356549:R92H	ENSP00000356549:R92H	R	+	2	0	IER5	179324936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.173000	0.16724	-0.337000	0.08426	0.297000	0.19635	CGT	G|0.568;A|0.432		0.801	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		A	181058313	G	A	181058313	3	1	59	1	0	0	0	0	1	0	0	0	7535	1145	40	1	277	1	IER5	1	181058313	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	5682472	181058313	68192308	20	11990											
SLC26A9	115019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205890762	205890762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtccaggatgagggtgtGgaaggtgacgaagggtggga	20	4	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:205890762G>T	ENST00000367135.3	-	17	2100	c.1987C>A	c.(1987-1989)Cac>Aac	p.H663N	SLC26A9_ENST00000340781.4_Missense_Mutation_p.H663N|SLC26A9_ENST00000367134.2_Missense_Mutation_p.H663N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	663	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATGAGGGTGTGGAAGGTGACG	0.642																																					p.H663N		.											.	SLC26A9-92	0			c.C1987A						.						49	39	42					1																	205890762		2203	4300	6503	SO:0001583	missense	115019	exon17			GGGTGTGGAAGGT	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1987C>A	1.37:g.205890762G>T	ENSP00000356103:p.His663Asn	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	85	26	NM_052934	0	0	0	0	0	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315908	0.81469	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.88431	-2.38;-2.38;-2.38	4.9	4.9	0.64082	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.114329	0.56097	D	0.000027	D	0.94598	0.8259	M	0.80422	2.495	0.54753	D	0.999981	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.992	D	0.95274	0.8380	10	0.87932	D	0	.	18.0403	0.89317	0.0:0.0:1.0:0.0	.	663;663	Q7LBE3;B1AVM8	S26A9_HUMAN;.	N	663	ENSP00000341682:H663N;ENSP00000356103:H663N;ENSP00000356102:H663N	ENSP00000341682:H663N	H	-	1	0	SLC26A9	204157385	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.064000	0.93933	2.429000	0.82318	0.655000	0.94253	CAC	.		0.642	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		T	205890762	G	T	205890762	3	4	59	1	0	0	0	0	1	0	0	0	14569	1348	47	3	704	3	SLC26A9	1	205890762	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	24832449	205890762	43359859	21	11991											
KCTD3	51133	hgsc.bcm.edu	37	chr1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggcactgcggcagcTtccccgcggcggcggccggc	19	16	0	0	rs2275768	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		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)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3	5	5		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	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.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	57	14	NM_016121	0	0	0	0	0	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215741053	T	G	215741053	3	3	59	1	0	0	0	0	1	0	0	0	8137	1609	56	5	27	5	KCTD3	1	215741053	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	9850291	215741053	33509568	22	11992											
TGFB2	7042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	218609421	218609421	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaatgttattgccctcCtacagacttgagtcacaaca	6	12	1	2	rs373646036		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:218609421C>G	ENST00000366930.4	+	5	1331	c.864C>G	c.(862-864)tcC>tcG	p.S288S	TGFB2_ENST00000366929.4_Silent_p.S316S|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	288					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TATTGCCCTCCTACAGACTTG	0.443																																					p.S316S		.											.	TGFB2-710	0			c.C948G						.	C	,	0,4406		0,0,2203	93	87	89		948,864	6.2	1	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	316/443,288/415	218609421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7042	exon6			GCCCTCCTACAGA	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.864C>G	1.37:g.218609421C>G		Somatic	317	0		WXS	Illumina GAIIx	Phase_I	291	36	NM_001135599	0	0	0	0	0	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																			.		0.443	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		G	218609421	C	G	218609421	2	3	59	1	0	0	0	0	0	0	0	1	15865	668	24	3		3	TGFB2	1	218609421	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2868368	218609421	30641200	23	11993											
LBR	3930	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	225600179	225600179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaggcgacaggtcaTtccggggcgctttcaaagag	15	10	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:225600179T>C	ENST00000338179.2	-	8	1186	c.1061A>G	c.(1060-1062)aAt>aGt	p.N354S	LBR_ENST00000272163.4_Missense_Mutation_p.N354S|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	354					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)			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)		CGACAGGTCATTCCGGGGCGC	0.488																																					p.N354S		.											.	LBR-228	0			c.A1061G						.						72	73	73					1																	225600179		2203	4300	6503	SO:0001583	missense	3930	exon8			AGGTCATTCCGGG	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.1061A>G	1.37:g.225600179T>C	ENSP00000339883:p.Asn354Ser	Somatic	280	1		WXS	Illumina GAIIx	Phase_I	289	53	NM_194442	0	0	0	0	0	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	7.997	0.754602	0.15778	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97870	-4.58;-4.58	6.06	-0.655	0.11439	.	1.033990	0.07598	N	0.923230	D	0.87877	0.6288	N	0.01202	-0.96	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.82131	-0.0609	10	0.08837	T	0.75	-0.5481	5.2239	0.15383	0.0:0.2146:0.2583:0.5271	.	354	Q14739	LBR_HUMAN	S	354	ENSP00000272163:N354S;ENSP00000339883:N354S	ENSP00000272163:N354S	N	-	2	0	LBR	223666802	0.023000	0.18921	0.000000	0.03702	0.188000	0.23474	1.763000	0.38461	-0.349000	0.08274	-0.417000	0.06048	AAT	.		0.488	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		C	225600179	T	C	225600179	3	2	59	1	0	0	0	0	1	0	0	0	8680	1493	52	4	814	4	LBR	1	225600179	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	6990758	225600179	23650442	24	11994											
GJC2	57165	hgsc.bcm.edu	37	chr1	228346053	228346053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcccgaccgggcaacaCgatgggcggaggcgcatcca	16	15	0	0	rs116557768	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr1:228346053C>T	ENST00000366714.2	+	2	769	c.594C>T	c.(592-594)caC>caT	p.H198H		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	198					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				CCGGGCAACACGATGGGCGGA	0.731													.|||	80	0.0159744	0.0015	0.013	5008	,	,		5629	0		0.0328	False		,,,				2504	0.0368				p.H198H		.											.	GJC2-68	0			c.C594T						.	C		46,4328		2,42,2143	13	16	15		594	-2	0.6	1	dbSNP_132	15	341,8201		6,329,3936	no	coding-synonymous	GJC2	NM_020435.3		8,371,6079	TT,TC,CC		3.992,1.0517,2.9963		198/440	228346053	387,12529	2187	4271	6458	SO:0001819	synonymous_variant	57165	exon2			GCAACACGATGGG	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.594C>T	1.37:g.228346053C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	73	49	NM_020435	0	0	0	0	0	O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	CCDS1569.1																																																																																			C|0.986;T|0.014		0.731	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		T	228346053	C	T	228346053	2	4	59	1	0	0	0	0	0	0	0	1	6441	535	19	1		1	GJC2	1	228346053	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2745874	228346053	20904568	25	11995											
PLEKHH2	130271	broad.mit.edu	37	chr2	43953487	43953487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgattcagatgaagattAtgaagccagtggacgaagtc	12	5	1	5			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:43953487A>C	ENST00000282406.4	+	17	2728	c.2618A>C	c.(2617-2619)tAt>tCt	p.Y873S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	873	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGAAGATTATGAAGCCAGT	0.393																																					p.Y873S		.											.	PLEKHH2-92	0			c.A2618C						.						111	104	106					2																	43953487		2203	4300	6503	SO:0001583	missense	130271	exon17			AAGATTATGAAGC	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2618A>C	2.37:g.43953487A>C	ENSP00000282406:p.Tyr873Ser	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	314	7	NM_172069	0	0	0	0	0	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732458	0.69189	.	.	ENSG00000152527	ENST00000282406	T	0.73258	-0.73	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.139468	0.50627	D	0.000103	T	0.80834	0.4699	L	0.58428	1.81	0.47905	D	0.999545	D;D	0.76494	0.966;0.999	P;D	0.68943	0.842;0.961	T	0.80582	-0.1318	10	0.42905	T	0.14	-17.9703	15.7475	0.77958	1.0:0.0:0.0:0.0	.	873;310	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	S	873	ENSP00000282406:Y873S	ENSP00000282406:Y873S	Y	+	2	0	PLEKHH2	43806991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.355000	0.59424	2.102000	0.63906	0.528000	0.53228	TAT	.		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		C	43953487	A	C	43953487	3	2	59	1	0	0	0	0	1	0	0	0	12116	449	16	5	2680	5	PLEKHH2	2	43953487	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10		43953487	199245886	26	11996											
PROKR1	10887	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	68873425	68873425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgccctgctggccAtcgccattgacaggtgagtg	11	14	0	2	rs147256235		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:68873425A>G	ENST00000303786.3	+	2	892	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	PROKR1_ENST00000394342.2_Missense_Mutation_p.I158V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	158					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGCTGGCCATCGCCATTGA	0.597																																					p.I158V		.											.	PROKR1-523	0			c.A472G						.	A	VAL/ILE	0,4406		0,0,2203	71	66	68		472	5.2	1	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR1	NM_138964.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	158/394	68873425	1,13005	2203	4300	6503	SO:0001583	missense	10887	exon1			CTGGCCATCGCCA	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.472A>G	2.37:g.68873425A>G	ENSP00000303775:p.Ile158Val	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	150	32	NM_138964	0	0	0	0	0	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122625	0.77436	0.0	1.16E-4	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.80566	-1.39;-1.39	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.092760	0.85682	D	0.000000	D	0.88833	0.6544	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.89500	0.3763	10	0.56958	D	0.05	.	13.3807	0.60766	1.0:0.0:0.0:0.0	.	158	Q8TCW9	PKR1_HUMAN	V	158	ENSP00000303775:I158V;ENSP00000377874:I158V	ENSP00000303775:I158V	I	+	1	0	PROKR1	68726929	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.972000	0.93424	2.330000	0.79161	0.528000	0.53228	ATC	A|1.000;G|0.000		0.597	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			G	68873425	A	G	68873425	3	3	59	1	0	0	0	0	1	0	0	0	12594	217	8	4	474	4	PROKR1	2	68873425	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	24919938	68873425	174325948	27	11997											
HK2	3099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	75115104	75115104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catcgatttcaccaagcgtgGactactcttccgaggccgca	9	14	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:75115104G>T	ENST00000290573.2	+	16	2894	c.2294G>T	c.(2293-2295)gGa>gTa	p.G765V	HK2_ENST00000409174.1_Missense_Mutation_p.G737V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	765	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACCAAGCGTGGACTACTCTTC	0.483																																					p.G765V		.											.	HK2-252	0			c.G2294T						.						158	138	145					2																	75115104		2203	4300	6503	SO:0001583	missense	3099	exon16			AGCGTGGACTACT		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.2294G>T	2.37:g.75115104G>T	ENSP00000290573:p.Gly765Val	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	275	39	NM_000189	0	0	0	0	0	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927308	0.92389	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96913	-4.17;-4.17	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.98740	1.0716	10	0.87932	D	0	-32.4998	15.5668	0.76300	0.0:0.0:1.0:0.0	.	765	P52789	HXK2_HUMAN	V	765;765;737	ENSP00000290573:G765V;ENSP00000387140:G737V	ENSP00000290573:G765V	G	+	2	0	HK2	74968612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.592000	0.98245	2.623000	0.88846	0.555000	0.69702	GGA	.		0.483	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75115104	G	T	75115104	3	4	59	1	0	0	0	0	1	0	0	0	7218	1174	41	3	2356	3	HK2	2	75115104	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6241679	75115104	168084269	28	11998											
TGOLN2	10618	broad.mit.edu;bcgsc.ca	37	chr2	85553698	85553700	+	In_Frame_Del	DEL	AAG	AAG	-													ctgcagtcaccagatatgcaAagaagtggctgctctccgcg							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:85553698_85553700delAAG	ENST00000409232.3	-	2	1216_1218	c.1155_1157delCTT	c.(1153-1158)ttcttt>ttt	p.385_386FF>F	TGOLN2_ENST00000398263.2_In_Frame_Del_p.327_328FF>F|TGOLN2_ENST00000444342.2_In_Frame_Del_p.385_386FF>F|TGOLN2_ENST00000377386.3_In_Frame_Del_p.385_386FF>F|TGOLN2_ENST00000282120.2_In_Frame_Del_p.229_230FF>F|TGOLN2_ENST00000409015.1_In_Frame_Del_p.385_386FF>F			O43493	TGON2_HUMAN	trans-golgi network protein 2	385				F -> S (in Ref. 5; CAE45926). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CAGATATGCAAAGAAGTGGCTGC	0.547																																					p.385_386del		.											.	TGOLN2-22	0			c.1155_1157del						.																																			SO:0001651	inframe_deletion	10618	exon2			TATGCAAAGAAGT	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1155_1157delCTT	2.37:g.85553701_85553703delAAG	ENSP00000386443:p.Phe386del	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	292	42	NM_001206841	0	0	0	0	0	B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	In_Frame_Del	DEL	ENST00000409232.3	37	CCDS56126.1																																																																																			.		0.547	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		-	85553700	AAG	-	85553698	7	5	59	1	0	1	0	1	0	0	0	0	15883	14	1	0	168	0	TGOLN2	2	85553698	In_Frame_Del	DEL	AAG	TCGA-P6-A5OH-01A-11D-A30A-10	10438594	85553698	157645675	29	11999											
AFF3	3899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	100167958	100167958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaggtgggcgctgttcCgcagccagtgcaggccctgt	15	12	0	1	rs150108936		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:100167958C>T	ENST00000409236.2	-	23	3771	c.3659G>A	c.(3658-3660)cGg>cAg	p.R1220Q	AFF3_ENST00000409579.1_Missense_Mutation_p.R1245Q|AFF3_ENST00000356421.2_Missense_Mutation_p.R1245Q|AFF3_ENST00000317233.4_Missense_Mutation_p.R1220Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1220					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						GGCGCTGTTCCGCAGCCAGTG	0.592																																					p.R1245Q		.											.	AFF3-230	0			c.G3734A						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	42	41	41		3734,3659	6.2	1	2	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFF3	NM_001025108.1,NM_002285.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1245/1252,1220/1227	100167958	1,13005	2203	4300	6503	SO:0001583	missense	3899	exon24			CTGTTCCGCAGCC	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.3659G>A	2.37:g.100167958C>T	ENSP00000387207:p.Arg1220Gln	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	90	26	NM_001025108	0	0	0	0	0	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	37	6.025587	0.97216	0.0	1.16E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	0.969;1.0	D;D	0.85130	0.975;0.997	D	0.83770	0.0219	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1220;1245	P51826;P51826-2	AFF3_HUMAN;.	Q	1220;1245;1245;1220	ENSP00000317421:R1220Q;ENSP00000348793:R1245Q;ENSP00000386834:R1245Q;ENSP00000387207:R1220Q	ENSP00000317421:R1220Q	R	-	2	0	AFF3	99534390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.941000	0.99782	0.655000	0.94253	CGG	C|1.000;T|0.000		0.592	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100167958	C	T	100167958	3	4	59	1	0	0	0	0	1	0	0	0	358	652	23	1	25	1	AFF3	2	100167958	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	14614260	100167958	143031415	30	12000											
POU3F3	5455	bcgsc.ca	37	chr2	105473180	105473180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaagatcgcggcgcagggCcgcaagcgcaagaagcggac	16	12	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:105473180C>A	ENST00000361360.2	+	1	1212	c.1212C>A	c.(1210-1212)ggC>ggA	p.G404G	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	404					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGGCGCAGGGCCGCAAGCGCA	0.632																																					p.G404G		.											.	POU3F3-45	0			c.C1212A						.						41	41	41					2																	105473180		2203	4300	6503	SO:0001819	synonymous_variant	5455	exon1			GCAGGGCCGCAAG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1212C>A	2.37:g.105473180C>A		Somatic	350	3		WXS	Illumina GAIIx	Phase_I	634	30	NM_006236	0	0	0	0	0	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																			.		0.632	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			A	105473180	C	A	105473180	2	1	59	1	0	0	0	0	0	0	0	1	12315	726	26	3		3	POU3F3	2	105473180	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	5305222	105473180	137726193	31	12001											
C2orf40	84417	hgsc.bcm.edu	37	chr2	106682235	106682235	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgccatggctgcctccccCgcgcggcctgctgtcctggc	13	20	0	0	rs4266035	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:106682235C>G	ENST00000238044.3	+	1	124	c.15C>G	c.(13-15)ccC>ccG	p.P5P	C2orf40_ENST00000409944.1_Intron|C2orf40_ENST00000489174.1_Intron	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	5					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTGCCTCCCCCGCGCGGCCTG	0.751													C|||	1156	0.230831	0.18	0.1239	5008	,	,		11837	0.2391		0.2187	False		,,,				2504	0.3793				p.P5P		.											.	C2orf40-90	0			c.C15G						.						2	3	3					2																	106682235		1650	3370	5020	SO:0001819	synonymous_variant	84417	exon1			CTCCCCCGCGCGG	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.15C>G	2.37:g.106682235C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_032411	0	0	0	0	0	D3DVK2	Silent	SNP	ENST00000238044.3	37	CCDS2072.1																																																																																			C|0.795;G|0.205		0.751	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		G	106682235	C	G	106682235	2	3	59	1	0	0	0	0	0	0	0	1	2172	639	23	2		2	C2orf40	2	106682235	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1209055	106682235	136517138	32	12002											
IKZF2	22807	broad.mit.edu	37	chr2	213872285	213872285	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttctccttctccattgaaGaccttgtagatgtccttcag	7	11	3	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:213872285G>T	ENST00000434687.1	-	9	1689	c.1380C>A	c.(1378-1380)gtC>gtA	p.V460V	IKZF2_ENST00000374319.4_Silent_p.V434V|IKZF2_ENST00000457361.1_Silent_p.V460V|IKZF2_ENST00000342002.2_Silent_p.V466V|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374327.4_Silent_p.V315V|IKZF2_ENST00000421754.2_Silent_p.V386V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Silent_p.V388V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	460					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCCATTGAAGACCTTGTAGA	0.478																																					p.V460V		.											.	IKZF2-226	0			c.C1380A						.						181	177	178					2																	213872285		2203	4300	6503	SO:0001819	synonymous_variant	22807	exon8			ATTGAAGACCTTG	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1380C>A	2.37:g.213872285G>T		Somatic	370	0		WXS	Illumina GAIIx	Phase_I	383	9	NM_016260	0	0	0	0	0	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	CCDS2395.1																																																																																			.		0.478	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		T	213872285	G	T	213872285	2	4	59	1	0	0	0	0	0	0	0	1	7642	929	33	3		3	IKZF2	2	213872285	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	107190050	213872285	29327088	33	12003											
DNPEP	23549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220250725	220250725	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgggcccaaagttctcgttGatatttcgctgcagatggat	11	8	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:220250725G>C	ENST00000273075.4	-	6	775	c.555C>G	c.(553-555)atC>atG	p.I185M	AC053503.4_ENST00000420563.1_RNA|DNPEP_ENST00000523282.1_Missense_Mutation_p.I193M|DNPEP_ENST00000373972.1_Missense_Mutation_p.I110M	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	175					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTTCTCGTTGATATTTCGCT	0.582																																					p.I185M		.											.	DNPEP-90	0			c.C555G						.						87	97	94					2																	220250725		2083	4224	6307	SO:0001583	missense	23549	exon6			CTCGTTGATATTT		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.555C>G	2.37:g.220250725G>C	ENSP00000273075:p.Ile185Met	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	260	57	NM_012100	0	0	0	0	0	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365635	0.41902	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206	.	.	.	4.87	3.97	0.46021	Peptidase M18, domain 2 (1);	0.497523	0.21802	N	0.068916	T	0.67505	0.2900	M	0.69823	2.125	0.47819	D	0.999522	B;B;B;B;B	0.22746	0.03;0.074;0.03;0.004;0.03	B;B;B;B;B	0.27500	0.051;0.051;0.08;0.038;0.031	T	0.66571	-0.5890	9	0.52906	T	0.07	-9.5064	14.4917	0.67654	0.0:0.2783:0.7217:0.0	.	193;185;193;175;185	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	M	185;185;110;193;78;193;171;185;185;110;110	.	ENSP00000273075:I185M	I	-	3	3	DNPEP	219958969	1.000000	0.71417	0.964000	0.40570	0.814000	0.46013	1.802000	0.38853	1.007000	0.39238	0.561000	0.74099	ATC	.		0.582	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		C	220250725	G	C	220250725	3	2	59	1	0	0	0	0	1	0	0	0	4693	1280	45	3	942	3	DNPEP	2	220250725	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6378440	220250725	22948648	34	12004											
ASB18	401036	hgsc.bcm.edu	37	chr2	237123104	237123104	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagcgcaggatgcggtctgGagcacgcggcccagcggcga	18	12	1	1	rs7588748	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr2:237123104G>C	ENST00000409749.3	-	4	1001	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Silent_p.L305L	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ATGCGGTCTGGAGCACGCGGC	0.756													C|||	1421	0.283746	0.7451	0.1369	5008	,	,		6279	0.005		0.1551	False		,,,				2504	0.184				p.L334L		.											.	ASB18-227	0			c.C1002G						.	C		1787,1791		461,865,463	3	4	4		1002	3	1	2	dbSNP_116	4	881,6987		75,731,3128	no	coding-synonymous	ASB18	NM_212556.2		536,1596,3591	CC,CG,GG		11.1973,49.9441,23.3095		334/467	237123104	2668,8778	1789	3934	5723	SO:0001819	synonymous_variant	401036	exon4			GGTCTGGAGCACG	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1002C>G	2.37:g.237123104G>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	39	17	NM_212556	0	0	0	0	0	B6ZDL7	Silent	SNP	ENST00000409749.3	37	CCDS46548.1																																																																																			G|0.754;C|0.246		0.756	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		C	237123104	G	C	237123104	2	2	59	1	0	0	0	0	0	0	0	1	1023	1161	41	3		3	ASB18	2	237123104	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	16872379	237123104	6076269	35	12005											
PRRT3	285368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9988097	9988097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgatgacagcccgtgGcgccaggggttccaactgat	12	13	0	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:9988097G>A	ENST00000412055.1	-	4	2889	c.2760C>T	c.(2758-2760)cgC>cgT	p.R920R	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	920						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						ACAGCCCGTGGCGCCAGGGGT	0.642																																					p.R920R		.											.	PRRT3-90	0			c.C2760T						.						15	20	18					3																	9988097		1958	4145	6103	SO:0001819	synonymous_variant	285368	exon4			CCCGTGGCGCCAG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.2760C>T	3.37:g.9988097G>A		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	258	67	NM_207351	0	0	0	0	0	Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	CCDS43049.1																																																																																			.		0.642	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		A	9988097	G	A	9988097	2	1	59	1	0	0	0	0	0	0	0	1	12653	1190	42	3		3	PRRT3	3	9988097	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10		9988097	188034333	36	12006											
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	42799655	42799655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagtttggctcccctgcGtggagaaggctgaggccatc	14	11	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:42799655G>A	ENST00000310232.6	-	2	266	c.183C>T	c.(181-183)caC>caT	p.H61H	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	61										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTCCCCTGCGTGGAGAAGGC	0.488																																					p.H61H		.											.	CCDC13-91	0			c.C183T						.						170	147	155					3																	42799655		2203	4300	6503	SO:0001819	synonymous_variant	152206	exon2			CCCTGCGTGGAGA	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.183C>T	3.37:g.42799655G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	129	29	NM_144719	0	0	0	0	0		Silent	SNP	ENST00000310232.6	37	CCDS2705.1																																																																																			.		0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42799655	G	A	42799655	2	1	59	1	0	0	0	0	0	0	0	1	2772	1136	40	1		1	CCDC13	3	42799655	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	32811558	42799655	155222775	37	12007											
SACM1L	22908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	45776839	45776839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatccagagtttgttagctCgtcgttcacttcaggcccaa	9	11	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:45776839C>T	ENST00000389061.5	+	14	1417	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	SACM1L_ENST00000418611.1_Missense_Mutation_p.R302C|SACM1L_ENST00000541314.1_Missense_Mutation_p.R344C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	405	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTGTTAGCTCGTCGTTCACT	0.418																																					p.R405C		.											.	SACM1L-91	0			c.C1213T						.						163	139	147					3																	45776839		2203	4300	6503	SO:0001583	missense	22908	exon14			TTAGCTCGTCGTT	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1213C>T	3.37:g.45776839C>T	ENSP00000373713:p.Arg405Cys	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	119	35	NM_014016	0	0	0	0	0	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946492	0.92593	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.68	5.68	0.88126	Synaptojanin, N-terminal (1);	0.157463	0.64402	D	0.000016	T	0.69975	0.3171	M	0.92219	3.285	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;D;D	0.68039	0.901;0.924;0.955	T	0.77504	-0.2563	10	0.87932	D	0	-3.7603	19.7934	0.96469	0.0:1.0:0.0:0.0	.	344;48;405	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	C	302;405;344;82	ENSP00000396387:R302C;ENSP00000373713:R405C;ENSP00000443373:R344C;ENSP00000412883:R82C	ENSP00000373713:R405C	R	+	1	0	SACM1L	45751843	1.000000	0.71417	0.664000	0.29753	0.997000	0.91878	4.482000	0.60257	2.678000	0.91216	0.585000	0.79938	CGT	.		0.418	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		T	45776839	C	T	45776839	3	4	59	1	0	0	0	0	1	0	0	0	13848	884	31	1	1267	1	SACM1L	3	45776839	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2977184	45776839	152245591	38	12008											
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													actgttcttccccaggtagaCtgtctgtaacaggtccccgt							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTGT	CTGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583																																					p.1235_1236del	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.3703_3706del						.																																			SO:0001589	frameshift_variant	22937	exon23			GGTAGACTGTCTG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3703_3706delACAG	3.37:g.47455482_47455485delCTGT	ENSP00000265565:p.Thr1235fs	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	137	0	NM_012235	0	0	0	0	0	Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	CCDS2755.2																																																																																			.		0.583	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		-	47455481	CTGT	-	47455478	7	5	59	1	0	1	0	1	0	0	0	0	13922	565	20	0	137	0	SCAP	3	47455478	Frame_Shift_Del	DEL	CTGT	TCGA-P6-A5OH-01A-11D-A30A-10	1678639	47455478	150566952	39	12009											
CACNA1D	776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	53844133	53844133	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaccgtgctacacccccctGatccaagtggagcagtcaga	9	15	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:53844133G>C	ENST00000350061.5	+	47	6511	c.6000G>C	c.(5998-6000)ctG>ctC	p.L2000L	CACNA1D_ENST00000422281.2_Silent_p.L1976L|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Silent_p.L2020L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2000					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)	ACACCCCCCTGATCCAAGTGG	0.647																																					p.L2020L		.											.	CACNA1D-100	0			c.G6060C						.						51	50	50					3																	53844133		2203	4300	6503	SO:0001819	synonymous_variant	776	exon48			CCCCCTGATCCAA	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.6000G>C	3.37:g.53844133G>C		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	177	38	NM_000720	0	0	0	0	0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																			.		0.647	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		C	53844133	G	C	53844133	2	2	59	1	0	0	0	0	0	0	0	1	2548	1277	45	3		3	CACNA1D	3	53844133	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6388655	53844133	144178297	40	12010											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctccagccgaagcaaaaGcagccagagaaggagaaggc	14	11	0	2	rs1403626	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	59	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	12706629	66550762	131471668	41	12011											
GBE1	2632	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	81627176	81627176	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataactggagtaaaaggagtCaggacactcatgtttgtata	10	5	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:81627176C>A	ENST00000429644.2	-	12	2161	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	GBE1_ENST00000489715.1_Silent_p.L465L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	506					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)		TAAAAGGAGTCAGGACACTCA	0.403									Glycogen Storage Disease, type IV																												p.L506L		.											.	GBE1-25	0			c.G1518T						.						90	86	87					3																	81627176		1950	4153	6103	SO:0001819	synonymous_variant	2632	exon12	Familial Cancer Database	Andersen Disease, Brancher deficiency	AGGAGTCAGGACA		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.1518G>T	3.37:g.81627176C>A		Somatic	95	1		WXS	Illumina GAIIx	Phase_I	84	17	NM_000158	0	0	0	0	0	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			.		0.403	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			A	81627176	C	A	81627176	2	1	59	1	0	0	0	0	0	0	0	1	6295	813	29	3		3	GBE1	3	81627176	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	15076414	81627176	116395254	42	12012											
PTPLB	201562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	123247281	123247281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attagaaaaactcttgacatCacctggaaagaagtcaggac	8	8	3	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:123247281C>T	ENST00000383657.5	-	4	490	c.333G>A	c.(331-333)gtG>gtA	p.V111V		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	111					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		CTCTTGACATCACCTGGAAAG	0.328																																					p.V111V		.											.	PTPLB-226	0			c.G333A						.						161	143	149					3																	123247281		1835	4104	5939	SO:0001819	synonymous_variant	201562	exon4			TGACATCACCTGG	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.333G>A	3.37:g.123247281C>T		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	43	6	NM_198402	0	0	0	0	0		Silent	SNP	ENST00000383657.5	37	CCDS46895.1																																																																																			.		0.328	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402		T	123247281	C	T	123247281	2	4	59	1	0	0	0	0	0	0	0	1	12820	813	29	3		3	PTPLB	3	123247281	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	41620105	123247281	74775149	43	12013											
MYLK	4638	bcgsc.ca	37	chr3	123357037	123357037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttcagagaccccgcAttctctgaaaccaggatgga	10	12	2	2	rs820463	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:123357037A>G	ENST00000475616.1	-	26	4841	c.4842T>C	c.(4840-4842)aaT>aaC	p.N1614N	MYLK_ENST00000360304.3_Silent_p.N1614N|MYLK_ENST00000346322.5_Silent_p.N1545N|MYLK_ENST00000360772.3_Silent_p.N1614N|MYLK_ENST00000359169.1_Silent_p.N1614N|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Silent_p.N414N			Q15746	MYLK_HUMAN	myosin light chain kinase	1614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGACCCCGCATTCTCTGAAA	0.552													A|||	1875	0.374401	0.4743	0.3271	5008	,	,		20106	0.6399		0.0785	False		,,,				2504	0.3037				p.N1614N		.											.	MYLK-365	0			c.T4842C						.	A	,,,	1798,2608	529.2+/-372.6	372,1054,777	57	58	58		4842,4635,4842,4635	-0.1	1	3	dbSNP_86	58	776,7824	184.5+/-232.4	41,694,3565	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	413,1748,4342	GG,GA,AA		9.0233,40.808,19.7909	,,,	1614/1915,1545/1846,1614/1864,1545/1795	123357037	2574,10432	2203	4300	6503	SO:0001819	synonymous_variant	4638	exon29			CCCCGCATTCTCT	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4842T>C	3.37:g.123357037A>G		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	126	5	NM_053025	0	0	0	0	0	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			A|0.733;G|0.267		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123357037	A	G	123357037	2	3	59	1	0	0	0	0	0	0	0	1	10094	214	8	4		4	MYLK	3	123357037	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	109756	123357037	74665393	44	12014											
COL6A5	256076	broad.mit.edu	37	chr3	130098349	130098349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccggaggaaatttaagGcatcttcagaccttccttga	11	9	2	2	rs16845861	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:130098349G>A	ENST00000432398.2	+	4	1250	c.756G>A	c.(754-756)agG>agA	p.R252R	COL6A5_ENST00000265379.6_Silent_p.R252R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	252	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAATTTAAGGCATCTTCAGA	0.468													G|||	1956	0.390575	0.4697	0.4553	5008	,	,		20494	0.5099		0.2008	False		,,,				2504	0.3098				p.R252R		.											.	.	0			c.G756A						.	G		583,801		114,355,223	95	85	88		756	4.2	0	3	dbSNP_123	88	696,2486		84,528,979	no	coding-synonymous	COL6A5	NM_153264.5		198,883,1202	AA,AG,GG		21.873,42.1243,28.0114		252/2527	130098349	1279,3287	692	1591	2283	SO:0001819	synonymous_variant	256076	exon4			TTTAAGGCATCTT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.756G>A	3.37:g.130098349G>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	95	5	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																				G|0.633;A|0.367		0.468	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130098349	G	A	130098349	2	1	59	1	0	0	0	0	0	0	0	1	3709	1194	42	3		3	COL6A5	3	130098349	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6741312	130098349	67924081	45	12015											
ASTE1	28990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	130737507	130737507	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggattggctccagaatggtCtgtttcaccttcagggtttc	12	9	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:130737507C>A	ENST00000264992.3	-	4	1797	c.1356G>T	c.(1354-1356)caG>caT	p.Q452H	ASTE1_ENST00000514044.1_Missense_Mutation_p.Q452H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	452					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCAGAATGGTCTGTTTCACCT	0.473																																					p.Q452H		.											.	ASTE1-90	0			c.G1356T						.						131	127	128					3																	130737507		2203	4300	6503	SO:0001583	missense	28990	exon4			AATGGTCTGTTTC	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1356G>T	3.37:g.130737507C>A	ENSP00000264992:p.Gln452His	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	117	12	NM_014065	0	0	0	0	0	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.925|1.925	-0.447480|-0.447480	0.04572|0.04572	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992|ENST00000505290	.|.	.|.	.|.	5.48|5.48	2.59|2.59	0.31030|0.31030	.|.	0.477633|.	0.24750|.	N|.	0.035917|.	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.21245|0.21245	-1.0251|-1.0251	9|5	0.33940|.	T|.	0.23|.	-2.9892|-2.9892	5.5466|5.5466	0.17067|0.17067	0.0:0.5058:0.2775:0.2167|0.0:0.5058:0.2775:0.2167	.|.	452;452|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	H|I	452|29	.|.	ENSP00000264992:Q452H|.	Q|R	-|-	3|2	2|0	ASTE1|ASTE1	132220197|132220197	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	-0.318000|-0.318000	0.08050|0.08050	0.702000|0.702000	0.31825|0.31825	-0.188000|-0.188000	0.12872|0.12872	CAG|AGA	.		0.473	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		A	130737507	C	A	130737507	3	1	59	1	0	0	0	0	1	0	0	0	1063	912	32	3	695	3	ASTE1	3	130737507	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	639158	130737507	67284923	46	12016											
TSC22D2	9819	hgsc.bcm.edu	37	chr3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcaccggccagaatGcttcctcggtgggcgcgcag	16	14	0	1	rs879634	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		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)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2	3	3		1255	1.5	0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	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.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150128392	G	A	150128392	3	1	59	1	0	0	0	0	1	0	0	0	16656	1319	46	3	1257	3	TSC22D2	3	150128392	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	19390885	150128392	47894038	47	12017											
LRRC31	79782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	169558017	169558017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttttggcagaacatgGtccaccccgcatcacagatg	10	13	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:169558017G>A	ENST00000316428.5	-	9	1469	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	LRRC31_ENST00000264676.5_Missense_Mutation_p.T415I|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	471										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCAGAACATGGTCCACCCCGC	0.478																																					p.P471L		.											.	LRRC31-93	0			c.C1412T						.						125	118	120					3																	169558017		2017	4176	6193	SO:0001583	missense	79782	exon9			AACATGGTCCACC	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1412C>T	3.37:g.169558017G>A	ENSP00000325978:p.Thr471Ile	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	217	24	NM_024727	0	0	0	0	0	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	7.696	0.692112	0.15039	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.51817	0.69;0.69	4.24	4.24	0.50183	.	0.583489	0.18815	N	0.130410	T	0.30103	0.0754	N	0.19112	0.55	0.20196	N	0.99992	P;P	0.38078	0.617;0.521	B;B	0.37650	0.173;0.255	T	0.09509	-1.0671	10	0.20046	T	0.44	-3.6309	9.2447	0.37518	0.1715:0.0:0.8285:0.0	.	415;471	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	I	471;415	ENSP00000325978:T471I;ENSP00000264676:T415I	ENSP00000264676:T415I	T	-	2	0	LRRC31	171040711	0.600000	0.26899	0.734000	0.30879	0.106000	0.19336	2.296000	0.43584	2.077000	0.62373	0.555000	0.69702	ACC	.		0.478	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		A	169558017	G	A	169558017	3	1	59	1	0	0	0	0	1	0	0	0	9021	1261	44	3	250	3	LRRC31	3	169558017	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	19429625	169558017	28464413	48	12018											
HTR3D	200909	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183756600	183756600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagagctgacaggggGctcagaatggacaagggccc	18	9	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr3:183756600G>A	ENST00000382489.3	+	8	1202	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	HTR3D_ENST00000428798.2_Missense_Mutation_p.G351D|HTR3D_ENST00000453435.1_Missense_Mutation_p.G180D|HTR3D_ENST00000334128.2_Missense_Mutation_p.G226D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	401					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGACAGGGGGCTCAGAATGG	0.627																																					p.G401D		.											.	HTR3D-90	0			c.G1202A						.						60	59	59					3																	183756600		2203	4300	6503	SO:0001583	missense	200909	exon8			CAGGGGGCTCAGA	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1202G>A	3.37:g.183756600G>A	ENSP00000371929:p.Gly401Asp	Somatic	280	1		WXS	Illumina GAIIx	Phase_I	488	75	NM_001163646	0	0	0	0	0	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084489	0.20309	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	3.8	-0.264	0.12950	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.979436	0.08333	N	0.961952	T	0.56731	0.2005	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.17098	0.017;0.009;0.013;0.011	T	0.40627	-0.9553	10	0.11485	T	0.65	-0.9225	2.7532	0.05286	0.3539:0.0:0.4388:0.2073	.	401;226;180;226	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	D	226;351;401;180	ENSP00000334315:G226D;ENSP00000405409:G351D;ENSP00000371929:G401D;ENSP00000389268:G180D	ENSP00000334315:G226D	G	+	2	0	HTR3D	185239294	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	0.412000	0.21131	0.027000	0.15297	0.563000	0.77884	GGC	.		0.627	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		A	183756600	G	A	183756600	3	1	59	1	0	0	0	0	1	0	0	0	7474	1203	42	3	1402	3	HTR3D	3	183756600	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	14198583	183756600	14265830	49	12019											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388755	1388755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	11	19	1	0	rs373946226	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75	67	69					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	72	13	NM_175918	0	0	0	0	0	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		G	1388755	C	G	1388755	2	3	59	1	0	0	0	0	0	0	0	1	3884	581	21	3		3	CRIPAK	4	1388755	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		1388755	189765521	50	12020											
TNIP2	79155	hgsc.bcm.edu	37	chr4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctgctcccggaagcGcgcaacctgctccagcagcg	12	17	0	0	rs74548850	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5	7	6		217	2.8	1	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	8	NM_024309	0	0	0	0	0		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		C	2757800	G	C	2757800	3	2	59	1	0	0	0	0	1	0	0	0	16362	1087	38	2	1096	2	TNIP2	4	2757800	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1369045	2757800	188396476	51	12021											
JAKMIP1	152789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	6114570	6114570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccttgctccggcctttcTtcgacatgcttccccttggg	9	17	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:6114570T>C	ENST00000282924.5	-	2	493	c.8A>G	c.(7-9)aAg>aGg	p.K3R	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.K3R|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.K3R|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.K3R|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.K3R|JAKMIP1_ENST00000457227.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	3	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGCCTTTCTTCGACATGCT	0.627																																					p.K3R		.											.	JAKMIP1-292	0			c.A8G						.						93	72	79					4																	6114570		2203	4300	6503	SO:0001583	missense	152789	exon2			CCTTTCTTCGACA	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.8A>G	4.37:g.6114570T>C	ENSP00000282924:p.Lys3Arg	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	85	27	NM_001099433	0	0	0	0	0	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563612	0.65651	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.37752	1.64;1.23;1.63;1.63;1.18	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000003	T	0.47691	0.1459	L	0.39633	1.23	0.29931	N	0.821929	D;D;D;D;B	0.67145	0.996;0.996;0.996;0.996;0.015	D;D;D;D;B	0.77557	0.981;0.99;0.981;0.981;0.011	T	0.42849	-0.9427	10	0.37606	T	0.19	.	12.1489	0.54038	0.0:0.0:0.0:1.0	.	3;3;3;3;3	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	R	3	ENSP00000386711:K3R;ENSP00000387042:K3R;ENSP00000282924:K3R;ENSP00000386925:K3R;ENSP00000386745:K3R	ENSP00000282924:K3R	K	-	2	0	JAKMIP1	6165471	1.000000	0.71417	0.928000	0.36995	0.466000	0.32739	5.317000	0.65822	1.661000	0.50771	0.482000	0.46254	AAG	.		0.627	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		C	6114570	T	C	6114570	3	2	59	1	0	0	0	0	1	0	0	0	7967	1609	56	4	2642	4	JAKMIP1	4	6114570	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	3356770	6114570	185039706	52	12022											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044357	7044357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggctcctcagccccAacctcggccggctcttcggg	14	17	2	0	rs871133	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1		0.9702	False		,,,				2504	1				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3	3	3		309	-4.5	0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	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.309T>C	4.37:g.7044357A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_153376	0	0	0	0	0	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		G	7044357	A	G	7044357	2	3	59	1	0	0	0	0	0	0	0	1	2881	117	5	4		4	CCDC96	4	7044357	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	929787	7044357	184109919	53	12023											
SEL1L3	23231	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	25760664	25760664	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggattatcgtaccttcctcGattagcagggccaggttaaa	11	9	0	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:25760664G>A	ENST00000399878.3	-	21	3104	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	SEL1L3_ENST00000264868.5_Silent_p.I959I|SEL1L3_ENST00000502949.1_Silent_p.I841I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	994						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TACCTTCCTCGATTAGCAGGG	0.388																																					p.I994I		.											.	.	0			c.C2982T						.						140	133	135					4																	25760664		1852	4096	5948	SO:0001819	synonymous_variant	23231	exon21			TTCCTCGATTAGC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2982C>T	4.37:g.25760664G>A		Somatic	78	1		WXS	Illumina GAIIx	Phase_I	79	37	NM_015187	0	0	0	0	0	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	8.463	0.855732	0.17106	.	.	ENSG00000091490	ENST00000510448	.	.	.	5.56	-3.59	0.04583	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	-13.1425	0.8547	0.01180	0.3528:0.0985:0.2492:0.2996	.	.	.	.	L	21	.	.	S	-	2	0	SEL1L3	25369762	0.528000	0.26314	0.611000	0.29010	0.858000	0.48976	-0.416000	0.07097	-0.465000	0.06953	-0.290000	0.09829	TCG	.		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		A	25760664	G	A	25760664	2	1	59	1	0	0	0	0	0	0	0	1	14057	1048	37	1		1	SEL1L3	4	25760664	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	18716307	25760664	165393612	54	12024											
ZAR1	326340	hgsc.bcm.edu	37	chr4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcagctggcagcaGcgcggcaggggctgccttcc	19	14	0	0	rs10008444	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1		1	False		,,,				2504	1				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2	3	3		126	-0.2	0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	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.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			C	48492434	G	C	48492434	3	2	59	1	0	0	0	0	1	0	0	0	17564	962	34	3	128	3	ZAR1	4	48492434	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	22731770	48492434	142661842	55	12025											
ANKRD56	345079	hgsc.bcm.edu	37	chr4	77818202	77818202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggggaagccctgctTgtcgcagcctcgacggtggc	17	13	0	0	rs2645674	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:77818202T>C	ENST00000334306.2	-	1	800	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	267	Ala-rich.																AAGCCCTGCTTGTCGCAGCCT	0.726													C|||	1670	0.333466	0.4887	0.2392	5008	,	,		13358	0.2292		0.332	False		,,,				2504	0.2996				p.T267T		.											.	.	0			c.A801G						.	C		1258,2610		207,844,883	3	5	4		801	-3.8	0	4	dbSNP_100	4	1803,5973		226,1351,2311	no	coding-synonymous	ANKRD56	NM_001029870.1		433,2195,3194	CC,CT,TT		23.1867,32.5233,26.2882		267/794	77818202	3061,8583	1934	3888	5822	SO:0001819	synonymous_variant	345079	exon1			CCTGCTTGTCGCA		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.801A>G	4.37:g.77818202T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_001029870	0	0	0	0	0	B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																			T|0.691;C|0.309		0.726	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77818202	T	C	77818202	2	2	59	1	0	0	0	0	0	0	0	1	682	1799	63	4		4	ANKRD56	4	77818202	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	29325768	77818202	113336074	56	12026											
ALPK1	80216	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	113352657	113352657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatgatctctctcttcagGaacccaacaatgacaatttg	5	11	4	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:113352657G>A	ENST00000458497.1	+	11	2233	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ALPK1_ENST00000504176.2_Missense_Mutation_p.E574K|ALPK1_ENST00000177648.9_Missense_Mutation_p.E652K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	652							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCTCTTCAGGAACCCAACAA	0.483																																					p.E652K		.											.	ALPK1-337	0			c.G1954A						.						83	79	81					4																	113352657		2203	4300	6503	SO:0001583	missense	80216	exon11			CTTCAGGAACCCA	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1954G>A	4.37:g.113352657G>A	ENSP00000398048:p.Glu652Lys	Somatic	124	1		WXS	Illumina GAIIx	Phase_I	116	17	NM_001102406	0	0	0	0	0	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459767	0.12342	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02525	4.33;4.33;4.26	5.1	1.27	0.21489	.	1.650740	0.03103	N	0.161349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29716	0.231;0.255;0.148	B;B;B	0.24848	0.056;0.037;0.025	T	0.45249	-0.9274	10	0.07175	T	0.84	0.3709	6.55	0.22427	0.2228:0.1283:0.6489:0.0	.	574;574;652	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	K	652;652;574	ENSP00000398048:E652K;ENSP00000177648:E652K;ENSP00000426044:E574K	ENSP00000177648:E652K	E	+	1	0	ALPK1	113572106	0.004000	0.15560	0.002000	0.10522	0.005000	0.04900	0.777000	0.26718	0.142000	0.18901	0.591000	0.81541	GAA	.		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113352657	G	A	113352657	3	1	59	1	0	0	0	0	1	0	0	0	544	1175	41	3	1988	3	ALPK1	4	113352657	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	35534455	113352657	77801619	57	12027											
INTU	27152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	128628123	128628123	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgggaccttgcttaAggtgtgtgcttattcaagtg	13	5	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:128628123A>T	ENST00000335251.6	+	12	2373	c.2270A>T	c.(2269-2271)aAg>aTg	p.K757M		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	757					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACCTTGCTTAAGGTGTGTGCT	0.428																																					p.K757M		.											.	INTU-91	0			c.A2270T						.						171	172	172					4																	128628123		2203	4300	6503	SO:0001630	splice_region_variant	27152	exon12			TGCTTAAGGTGTG	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2271+1A>T	4.37:g.128628123A>T		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	127	17	NM_015693	0	0	0	0	0	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246633	0.39697	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.36	4.36	0.52297	.	0.172062	0.49916	D	0.000127	T	0.66886	0.2835	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	T	0.69986	-0.4996	9	0.62326	D	0.03	-9.4626	14.2792	0.66200	1.0:0.0:0.0:0.0	.	757	Q9ULD6	PDZD6_HUMAN	M	757	.	ENSP00000334003:K757M	K	+	2	0	INTU	128847573	1.000000	0.71417	0.994000	0.49952	0.134000	0.20937	3.406000	0.52637	2.193000	0.70182	0.528000	0.53228	AAG	.		0.428	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Missense_Mutation	T	128628123	A	T	128628123	5	4	59	1	0	0	0	0	0	0	1	0	7813	86	3	5	2316	5	INTU	4	128628123	Splice_Site	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	15275466	128628123	62526153	58	12028											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134072249	134072249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcggcgagttggactaTgaagagagcccagtgtacca	14	8	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:134072249T>C	ENST00000264360.5	+	1	1780	c.954T>C	c.(952-954)taT>taC	p.Y318Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|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)		AGTTGGACTATGAAGAGAGCC	0.612																																					p.Y318Y		.											.	PCDH10-92	0			c.T954C						.						75	69	71					4																	134072249		2203	4300	6503	SO:0001819	synonymous_variant	57575	exon1			GGACTATGAAGAG	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.954T>C	4.37:g.134072249T>C		Somatic	123	0		WXS	Illumina GAIIx	Phase_I	156	40	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		C	134072249	T	C	134072249	2	2	59	1	0	0	0	0	0	0	0	1	11546	1471	51	4		4	PCDH10	4	134072249	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	5444126	134072249	57082027	59	12029											
TTC29	83894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	147830303	147830303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcctccctcagggcaTcccaccgctccatcagagcg	9	19	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr4:147830303T>G	ENST00000325106.4	-	5	501	c.275A>C	c.(274-276)gAt>gCt	p.D92A	TTC29_ENST00000398886.4_Missense_Mutation_p.D118A|TTC29_ENST00000513335.1_Missense_Mutation_p.D118A	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	92										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTCAGGGCATCCCACCGCTC	0.527																																					p.D92A		.											.	TTC29-90	0			c.A275C						.						66	68	67					4																	147830303		1928	4136	6064	SO:0001583	missense	83894	exon5			AGGGCATCCCACC	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.275A>C	4.37:g.147830303T>G	ENSP00000316740:p.Asp92Ala	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	49	10	NM_031956	0	0	0	0	0	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.492834	0.44352	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.23	5.23	0.72850	.	0.690269	0.14722	N	0.302249	T	0.18425	0.0442	L	0.54323	1.7	0.36089	D	0.843349	P;P;P	0.46142	0.488;0.873;0.488	B;B;B	0.39660	0.079;0.306;0.079	T	0.20739	-1.0266	10	0.15499	T	0.54	-6.6917	15.4425	0.75195	0.0:0.0:0.0:1.0	.	92;118;92	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	A	118;118;92;92;92	ENSP00000423505:D118A;ENSP00000381861:D118A;ENSP00000316740:D92A;ENSP00000425778:D92A	ENSP00000316740:D92A	D	-	2	0	TTC29	148049753	0.990000	0.36364	0.915000	0.36163	0.830000	0.47004	2.245000	0.43133	2.100000	0.63781	0.533000	0.62120	GAT	.		0.527	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		G	147830303	T	G	147830303	3	3	59	1	0	0	0	0	1	0	0	0	16745	1435	50	5	1188	5	TTC29	4	147830303	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	13758054	147830303	43323973	60	12030											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000506139.1_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	6	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	59	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		6633779	174281481	61	12031											
EGFLAM	133584	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	38418285	38418285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaggctgtgtgcagtcgCtcgctgtgaatgggaggaga	16	7	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:38418285C>T	ENST00000354891.3	+	12	1958	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	EGFLAM_ENST00000322350.5_Missense_Mutation_p.L538F|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.L304F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	538	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					TGTGCAGTCGCTCGCTGTGAA	0.572																																					p.L538F	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.C1612T						.						92	96	95					5																	38418285		2203	4300	6503	SO:0001583	missense	133584	exon12			CAGTCGCTCGCTG	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.1612C>T	5.37:g.38418285C>T	ENSP00000346964:p.Leu538Phe	Somatic	152	2		WXS	Illumina GAIIx	Phase_I	205	35	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198453	0.58126	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.78707	-1.2;-1.2;-1.2	5.78	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.985	D;D;D	0.91635	0.996;0.999;0.943	D	0.83460	0.0053	10	0.37606	T	0.19	-17.3699	15.2287	0.73369	0.0:0.9314:0.0:0.0686	.	304;538;538	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	F	538;538;304;304	ENSP00000346964:L538F;ENSP00000313084:L538F;ENSP00000337607:L304F	ENSP00000313084:L538F	L	+	1	0	EGFLAM	38454042	1.000000	0.71417	0.258000	0.24420	0.447000	0.32167	4.633000	0.61318	2.718000	0.92993	0.557000	0.71058	CTC	.		0.572	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		T	38418285	C	T	38418285	3	4	59	1	0	0	0	0	1	0	0	0	4980	797	28	3	1672	3	EGFLAM	5	38418285	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	31784506	38418285	142496975	62	12032											
NAIP	4671	broad.mit.edu;bcgsc.ca	37	chr5	70308258	70308258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttcctgaaggacgcaagtCtagcctcctcttcttggtac	9	12	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:70308258C>G	ENST00000517649.1	-	4	775	c.485G>C	c.(484-486)aGa>aCa	p.R162T	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.R162T|NAIP_ENST00000194097.4_Missense_Mutation_p.R162T	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	162					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)		GGACGCAAGTCTAGCCTCCTC	0.458																																					p.R162T		.											.	NAIP-205	0			c.G485C						.						196	144	162					5																	70308258		2202	4296	6498	SO:0001583	missense	4671	exon4			GCAAGTCTAGCCT	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.485G>C	5.37:g.70308258C>G	ENSP00000428657:p.Arg162Thr	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	204	6	NM_004536	0	0	0	0	0	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	16.17	3.048423	0.55110	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	D;D;D	0.96265	-3.96;-3.96;-3.96	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	D	0.98830	0.9605	H	0.98276	4.19	0.44719	D	0.997714	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98805	1.0741	9	0.87932	D	0	.	14.4292	0.67238	0.0:1.0:0.0:0.0	.	162;162	E7EQW0;Q13075	.;BIRC1_HUMAN	T	162	ENSP00000428657:R162T;ENSP00000443944:R162T;ENSP00000429545:R162T	ENSP00000443944:R162T	R	-	2	0	NAIP	70344014	0.853000	0.29707	0.517000	0.27799	0.575000	0.36095	2.927000	0.48900	2.121000	0.65114	0.436000	0.28706	AGA	.		0.458	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		G	70308258	C	G	70308258	3	3	59	1	0	0	0	0	1	0	0	0	10185	913	32	3	3782	3	NAIP	5	70308258	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	31889973	70308258	110607002	63	12033											
HMGCR	3156	broad.mit.edu;bcgsc.ca	37	chr5	74639696	74639698	+	In_Frame_Del	DEL	ATT	ATT	-													aggatgttttgagcagtgacAttataattctgacaataaca							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:74639696_74639698delATT	ENST00000287936.4	+	3	340_342	c.184_186delATT	c.(184-186)attdel	p.I64del	HMGCR_ENST00000511206.1_In_Frame_Del_p.I64del|HMGCR_ENST00000343975.5_In_Frame_Del_p.I64del	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	64	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGCAGTGACATTATAATTCTGA	0.296																																					p.62_62del		.											.	HMGCR-227	0			c.184_186del						.																																			SO:0001651	inframe_deletion	3156	exon3			AGTGACATTATAA		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.184_186delATT	5.37:g.74639696_74639698delATT	ENSP00000287936:p.Ile64del	Somatic	278	0		WXS	Illumina GAIIx	Phase_I	295	38	NM_001130996	0	0	0	0	0	B7Z3Y9|Q8N190	In_Frame_Del	DEL	ENST00000287936.4	37	CCDS4027.1																																																																																			.		0.296	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			-	74639698	ATT	-	74639696	7	5	59	1	0	1	0	1	0	0	0	0	7258	217	8	0	190	0	HMGCR	5	74639696	In_Frame_Del	DEL	ATT	TCGA-P6-A5OH-01A-11D-A30A-10	4331438	74639696	106275564	64	12034											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	90055402	90055402	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtatttggatttgaagaaaaGactgtaagttaaacatatca	8	3	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:90055402G>C	ENST00000405460.2	+	58	12213	c.12117G>C	c.(12115-12117)aaG>aaC	p.K4039N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4039	Calx-beta 27. {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)		TTGAAGAAAAGACTGTAAGTT	0.383																																					p.K4039N		.											.	GPR98-103	0			c.G12117C						.						115	108	110					5																	90055402		1944	4146	6090	SO:0001583	missense	84059	exon58			AGAAAAGACTGTA	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.12117G>C	5.37:g.90055402G>C	ENSP00000384582:p.Lys4039Asn	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	108	8	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.724122|1.724122	0.30593|0.30593	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.30714|.	1.52|.	5.06|5.06	2.26|2.26	0.28386|0.28386	Na-Ca exchanger/integrin-beta4 (2);|.	0.348459|.	0.33092|.	N|.	0.005291|.	T|T	0.53899|0.53899	0.1825|0.1825	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P;P|.	0.44521|.	0.837;0.801|.	P;P|.	0.48400|.	0.576;0.494|.	T|T	0.41395|0.41395	-0.9511|-0.9511	10|5	0.38643|.	T|.	0.18|.	.|.	9.2834|9.2834	0.37742|0.37742	0.4288:0.0:0.5712:0.0|0.4288:0.0:0.5712:0.0	.|.	4039;4039|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	N|T	4039|1605	ENSP00000384582:K4039N|.	ENSP00000296619:K4039N|.	K|R	+|+	3|2	2|0	GPR98|GPR98	90091158|90091158	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	0.208000|0.208000	0.17415|0.17415	0.246000|0.246000	0.21394|0.21394	0.563000|0.563000	0.77884|0.77884	AAG|AGA	.		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90055402	G	C	90055402	3	2	59	1	0	0	0	0	1	0	0	0	6748	933	33	3	12347	3	GPR98	5	90055402	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	15415706	90055402	90859858	65	12035											
RGMB	285704	hgsc.bcm.edu	37	chr5	98109838	98109838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttgagcagcgccgcAgccccgggctctgccccccg	14	19	1	1	rs2662263	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:98109838A>C	ENST00000513185.1	+	1	500	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	RGMB_ENST00000504776.1_3'UTR|RGMB-AS1_ENST00000505362.1_RNA|RGMB-AS1_ENST00000498871.2_RNA|RGMB-AS1_ENST00000501938.2_RNA|RGMB-AS1_ENST00000505677.1_RNA|RGMB-AS1_ENST00000515003.1_RNA|RGMB_ENST00000308234.7_Missense_Mutation_p.S63R			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	22				S -> R (in Ref. 3; AAH67736). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		gcagcgccgcagccccgggct	0.741													C|||	4970	0.992412	1	0.9885	5008	,	,		8183	1		0.9791	False		,,,				2504	0.9908				p.S63R		.											.	.	0			c.A187C						.						1	1	1					5																	98109838		379	926	1305	SO:0001583	missense	285704	exon3			CGCCGCAGCCCCG	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.64A>C	5.37:g.98109838A>C	ENSP00000423256:p.Ser22Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001012761	0	0	0	0	0	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		2084	0.9542124542124543	469	0.9532520325203252	342	0.9447513812154696	557	0.9737762237762237	716	0.9445910290237467	C	10.21	1.287484	0.23478	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93019	-3.14;-3.15	4.16	2.33	0.28932	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	8	0.11794	T	0.64	-0.2125	4.3815	0.11297	0.1608:0.5981:0.1551:0.0861	rs2662263;rs61109719	22	Q6NW40	RGMB_HUMAN	R	63;22	ENSP00000308219:S63R;ENSP00000423256:S22R	ENSP00000308219:S63R	S	+	1	0	RGMB	98137738	0.902000	0.30710	0.372000	0.25991	0.345000	0.29048	0.380000	0.20602	0.144000	0.18951	-0.371000	0.07208	AGC	T|0.046;G|0.950		0.741	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		C	98109838	A	C	98109838	3	2	59	1	0	0	0	0	1	0	0	0	13326	188	7	5	193	5	RGMB	5	98109838	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	8054436	98109838	82805422	66	12036											
ST8SIA4	7903	hgsc.bcm.edu	37	chr5	100147798	100147798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgagaagacctgtgctgGgtcttttgataggaactttg	12	6	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:100147798G>T	ENST00000231461.5	-	5	1143	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	278					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)		ACCTGTGCTGGGTCTTTTGAT	0.388																																					p.P278H		.											.	ST8SIA4-153	0			c.C833A						.						50	53	52					5																	100147798		2203	4295	6498	SO:0001583	missense	7903	exon5			GTGCTGGGTCTTT	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.833C>A	5.37:g.100147798G>T	ENSP00000231461:p.Pro278His	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	87	5	NM_005668	0	0	0	0	0	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178771	0.78564	.	.	ENSG00000113532	ENST00000231461	T	0.47177	0.85	5.97	5.1	0.69264	.	0.063541	0.64402	D	0.000006	T	0.78824	0.4344	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85965	0.1473	10	0.72032	D	0.01	.	14.2473	0.65997	0.071:0.0:0.929:0.0	.	278	Q92187	SIA8D_HUMAN	H	278	ENSP00000231461:P278H	ENSP00000231461:P278H	P	-	2	0	ST8SIA4	100175697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	1.537000	0.49254	0.655000	0.94253	CCC	.		0.388	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		T	100147798	G	T	100147798	3	4	59	1	0	0	0	0	1	0	0	0	15281	1232	43	3	250	3	ST8SIA4	5	100147798	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	2037960	100147798	80767462	67	12037											
ZNF474	133923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	121487769	121487769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacccactttccttatcaaCcaagctgggcttctctctag	6	14	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:121487769C>G	ENST00000296600.4	+	2	467	c.84C>G	c.(82-84)aaC>aaG	p.N28K	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	28							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TCCTTATCAACCAAGCTGGGC	0.368																																					p.N28K		.											.	ZNF474-90	0			c.C84G						.						88	94	92					5																	121487769		2203	4300	6503	SO:0001583	missense	133923	exon2			TATCAACCAAGCT	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.84C>G	5.37:g.121487769C>G	ENSP00000296600:p.Asn28Lys	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	92	20	NM_207317	0	0	0	0	0	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	6.349	0.432532	0.12045	.	.	ENSG00000164185	ENST00000296600;ENST00000504912;ENST00000505843	T	0.39787	1.06	5.58	3.75	0.43078	.	1.423520	0.05327	U	0.527689	T	0.33440	0.0863	L	0.27053	0.805	0.25122	N	0.99064	B	0.26195	0.144	B	0.21708	0.036	T	0.18967	-1.0320	10	0.09338	T	0.73	-8.9857	14.8286	0.70132	0.0:0.5738:0.4262:0.0	.	28	Q6S9Z5	ZN474_HUMAN	K	28	ENSP00000296600:N28K	ENSP00000296600:N28K	N	+	3	2	ZNF474	121515668	0.029000	0.19370	0.978000	0.43139	0.772000	0.43724	-0.085000	0.11250	0.676000	0.31285	0.655000	0.94253	AAC	.		0.368	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		G	121487769	C	G	121487769	3	3	59	1	0	0	0	0	1	0	0	0	17980	506	18	3	86	3	ZNF474	5	121487769	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	21339971	121487769	59427491	68	12038											
CHSY3	337876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	129241282	129241282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaccactacctggacaagTatgagtggttcatgcgcgcc	11	12	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:129241282T>C	ENST00000305031.4	+	1	1118	c.760T>C	c.(760-762)Tat>Cat	p.Y254H	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTGGACAAGTATGAGTGGTT	0.557																																					p.Y254H		.											.	CHSY3-25	0			c.T760C						.						115	118	117					5																	129241282		2203	4300	6503	SO:0001583	missense	337876	exon1			GACAAGTATGAGT	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.760T>C	5.37:g.129241282T>C	ENSP00000302629:p.Tyr254His	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	276	39	NM_175856	0	0	0	0	0	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952452	0.73787	.	.	ENSG00000198108	ENST00000305031	D	0.85629	-2.01	3.38	3.38	0.38709	.	0.270927	0.19748	U	0.106970	D	0.91506	0.7318	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	D	0.91737	0.5401	9	.	.	.	.	12.8485	0.57844	0.0:0.0:0.0:1.0	.	254	Q70JA7	CHSS3_HUMAN	H	254	ENSP00000302629:Y254H	.	Y	+	1	0	CHSY3	129269181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	1.773000	0.52216	0.260000	0.18958	TAT	.		0.557	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		C	129241282	T	C	129241282	3	2	59	1	0	0	0	0	1	0	0	0	3420	1638	57	4	762	4	CHSY3	5	129241282	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	7753513	129241282	51673978	69	12039											
PCDHA8	56140	broad.mit.edu;bcgsc.ca	37	chr5	140221852	140221852	+	Frame_Shift_Del	DEL	T	T	-													attttgaacaagaaaacttaTacaaaatcctcattgacgcc							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140221852delT	ENST00000531613.1	+	1	946	c.946delT	c.(946-948)tacfs	p.Y316fs	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Frame_Shift_Del_p.Y316fs|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAACTTATACAAAATCCT	0.403																																					p.Y316fs		.											.	PCDHA8-92	0			c.946delT						.						28	31	30					5																	140221852		2172	4278	6450	SO:0001589	frameshift_variant	56140	exon1			AACTTATACAAAA	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.946delT	5.37:g.140221852delT	ENSP00000434655:p.Tyr316fs	Somatic	435	0		WXS	Illumina GAIIx	Phase_I	476	66	NM_031856	0	0	0	0	0	B9EGT7|O75281	Frame_Shift_Del	DEL	ENST00000531613.1	37	CCDS54919.1																																																																																			.		0.403	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		-	140221852	T	-	140221852	7	5	59	1	0	1	0	1	0	0	0	0	11569	1406	49	0	948	0	PCDHA8	5	140221852	Frame_Shift_Del	DEL	T	TCGA-P6-A5OH-01A-11D-A30A-10	10980570	140221852	40693408	70	12040											
PCDHA12	56137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140255507	140255507	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgcgcctctggactcTcattttcctctagagggcgc	10	13	4	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140255507T>A	ENST00000398631.2	+	1	450	c.450T>A	c.(448-450)tcT>tcA	p.S150S	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGACTCTCATTTTCCTC	0.448																																					p.S150S	Pancreas(113;759 1672 13322 24104 50104)	.											.	.	0			c.T450A						.						63	73	70					5																	140255507		2203	4300	6503	SO:0001819	synonymous_variant	56137	exon1			GGACTCTCATTTT	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.450T>A	5.37:g.140255507T>A		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	197	38	NM_018903	0	0	0	0	0	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																			.		0.448	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140255507	T	A	140255507	2	1	59	1	0	0	0	0	0	0	0	1	11561	1538	54	5		5	PCDHA12	5	140255507	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	33655	140255507	40659753	71	12041											
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140594583	140594583	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaacctttaagatcaaTcccttgacaggagaaattga	8	8	1	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140594583T>C	ENST00000341948.4	+	1	1075	c.888T>C	c.(886-888)aaT>aaC	p.N296N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAGATCAATCCCTTGACAG	0.403																																					p.N296N		.											.	PCDHB13-93	0			c.T888C						.						96	100	98					5																	140594583		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			GATCAATCCCTTG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.888T>C	5.37:g.140594583T>C		Somatic	228	1		WXS	Illumina GAIIx	Phase_I	194	48	NM_018933	0	0	0	0	0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			.		0.403	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		C	140594583	T	C	140594583	2	2	59	1	0	0	0	0	0	0	0	1	11577	1432	50	4		4	PCDHB13	5	140594583	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	339076	140594583	40320677	72	12042											
PCDHGA8	9708	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	140774156	140774156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggtgaccaaggtggtGgcggtggacagagactcggg	18	8	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140774156G>A	ENST00000398604.2	+	1	1776	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	592	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGTGGTGGCGGTGGACA	0.697																																					p.V592V		.											.	.	0			c.G1776A						.						45	53	50					5																	140774156		2201	4298	6499	SO:0001819	synonymous_variant	9708	exon1			GGTGGTGGCGGTG	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1776G>A	5.37:g.140774156G>A		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	353	64	NM_014004	0	0	0	0	0	A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																			.		0.697	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140774156	G	A	140774156	2	1	59	1	0	0	0	0	0	0	0	1	11599	1335	47	3		3	PCDHGA8	5	140774156	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	179573	140774156	40141104	73	12043											
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140799544	140799544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctctttctcctcgcGgtgattctagctattgctct	8	12	5	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:140799544G>A	ENST00000398594.2	+	1	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCTCGCGGTGATTCTAG	0.552																																					p.A706A		.											.	PCDHGB7-29	0			c.G2118A						.						100	105	103					5																	140799544		2159	4254	6413	SO:0001819	synonymous_variant	56099	exon1			CCTCGCGGTGATT	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2118G>A	5.37:g.140799544G>A		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	202	32	NM_018927	0	0	0	0	0	Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																			.		0.552	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		A	140799544	G	A	140799544	2	1	59	1	0	0	0	0	0	0	0	1	11607	1103	39	1		1	PCDHGB7	5	140799544	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	25388	140799544	40115716	74	12044											
KCTD16	57528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	143853595	143853595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatgtatccaggattTcctaaaaatcaaaattccag	7	7	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:143853595T>C	ENST00000507359.3	+	3	2296	c.1205T>C	c.(1204-1206)tTc>tCc	p.F402S	KCTD16_ENST00000512467.1_Missense_Mutation_p.F402S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	402					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCAGGATTTCCTAAAAATC	0.433																																					p.F402S		.											.	KCTD16-137	0			c.T1205C						.						58	68	65					5																	143853595		2198	4299	6497	SO:0001583	missense	57528	exon4			AGGATTTCCTAAA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1205T>C	5.37:g.143853595T>C	ENSP00000426548:p.Phe402Ser	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	118	8	NM_020768	0	0	0	0	0	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437932	0.83885	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.52754	0.65;0.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.36672	1.1	0.53688	D	0.999976	D	0.65815	0.995	P	0.56163	0.793	T	0.57642	-0.7776	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	402	Q68DU8	KCD16_HUMAN	S	402	ENSP00000424151:F402S;ENSP00000426548:F402S	ENSP00000426548:F402S	F	+	2	0	KCTD16	143833788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.371000	0.80710	0.533000	0.62120	TTC	.		0.433	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		C	143853595	T	C	143853595	3	2	59	1	0	0	0	0	1	0	0	0	8130	1783	62	4	1211	4	KCTD16	5	143853595	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	3054051	143853595	37061665	75	12045											
FBXO38	81545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	147820759	147820759	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcattacgagctgcagagcCcaacagcttcgctcgatacg	10	13	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:147820759C>G	ENST00000340253.5	+	21	3515	c.3347C>G	c.(3346-3348)cCc>cGc	p.P1116R	FBXO38_ENST00000394370.3_Missense_Mutation_p.P1041R|FBXO38_ENST00000513826.1_Missense_Mutation_p.P871R|FBXO38_ENST00000296701.6_Missense_Mutation_p.P871R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1116					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGAGCCCAACAGCTTC	0.413																																					p.P1041R		.											.	FBXO38-231	0			c.C3122G						.						228	189	202					5																	147820759		2203	4300	6503	SO:0001583	missense	81545	exon21			CAGAGCCCAACAG	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3347C>G	5.37:g.147820759C>G	ENSP00000342023:p.Pro1116Arg	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	133	18	NM_030793	0	0	0	0	0	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	25.1	4.604465	0.87157	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39592	1.07;1.11;1.07;1.11	5.51	5.51	0.81932	.	0.046072	0.85682	D	0.000000	T	0.56202	0.1969	L	0.32530	0.975	0.39964	D	0.974702	P;D;D	0.89917	0.95;1.0;0.996	P;D;D	0.85130	0.605;0.997;0.931	T	0.59204	-0.7498	10	0.72032	D	0.01	-10.4717	18.3358	0.90287	0.0:1.0:0.0:0.0	.	871;1041;1116	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	R	1116;871;1041;871	ENSP00000342023:P1116R;ENSP00000296701:P871R;ENSP00000377895:P1041R;ENSP00000426410:P871R	ENSP00000296701:P871R	P	+	2	0	FBXO38	147800952	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.376000	0.79658	2.750000	0.94351	0.591000	0.81541	CCC	.		0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147820759	C	G	147820759	3	3	59	1	0	0	0	0	1	0	0	0	5768	623	22	3	3425	3	FBXO38	5	147820759	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	3967164	147820759	33094501	76	12046											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	59	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	27971846	175792605	5122655	77	12047											
UNC5A	90249	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176305481	176305481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgcatccccatcaggagatCcccttttatcacatctggaa	6	14	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176305481C>G	ENST00000329542.4	+	13	2299	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	UNC5A_ENST00000261961.3_Missense_Mutation_p.I635M	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	675					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGGAGATCCCCTTTTATC	0.607																																					p.I675M		.											.	UNC5A-91	0			c.C2025G						.						93	85	88					5																	176305481		2203	4300	6503	SO:0001583	missense	90249	exon13			GGAGATCCCCTTT	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.2025C>G	5.37:g.176305481C>G	ENSP00000332737:p.Ile675Met	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	377	57	NM_133369	0	0	0	0	0	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087652	0.55968	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.61040	0.14;0.46	5.41	2.3	0.28687	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.82517	2.595	0.41919	D	0.990501	D	0.69078	0.997	P	0.60789	0.879	T	0.66436	-0.5924	10	0.87932	D	0	-42.2542	4.1772	0.10358	0.1556:0.5582:0.0:0.2862	.	675	Q6ZN44	UNC5A_HUMAN	M	675;635	ENSP00000332737:I675M;ENSP00000261961:I635M	ENSP00000261961:I635M	I	+	3	3	UNC5A	176238087	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.675000	0.25232	0.131000	0.18576	0.491000	0.48974	ATC	.		0.607	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		G	176305481	C	G	176305481	3	3	59	1	0	0	0	0	1	0	0	0	17040	845	30	3	2075	3	UNC5A	5	176305481	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	512876	176305481	4609779	78	12048											
DBN1	1627	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176885468	176885468	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcagcagtggcagtgTcagtttcaatggtgtcagct	14	7	4	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176885468T>G	ENST00000309007.5	-	12	1586	c.1367A>C	c.(1366-1368)gAc>gCc	p.D456A	DBN1_ENST00000512501.1_Missense_Mutation_p.D188A|DBN1_ENST00000393565.1_Missense_Mutation_p.D502A|DBN1_ENST00000292385.5_Missense_Mutation_p.D458A|DBN1_ENST00000393563.4_Missense_Mutation_p.D188A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	456					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGGCAGTGTCAGTTTCAAT	0.617																																					p.D458A		.											.	DBN1-587	0			c.A1373C						.						147	168	161					5																	176885468		2203	4300	6503	SO:0001583	missense	1627	exon13			GCAGTGTCAGTTT		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1367A>C	5.37:g.176885468T>G	ENSP00000308532:p.Asp456Ala	Somatic	292	3		WXS	Illumina GAIIx	Phase_I	688	135	NM_080881	0	0	0	0	0	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	0.143	-1.100211	0.01843	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.30448	1.56;1.55;1.57;1.53;1.58	4.24	-2.6	0.06190	.	2.701610	0.01862	N	0.036691	T	0.15652	0.0377	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.18398	-1.0338	10	0.35671	T	0.21	-11.0899	5.588	0.17285	0.0:0.2453:0.493:0.2617	.	406;502;456;458	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	A	456;458;502;188;188	ENSP00000308532:D456A;ENSP00000292385:D458A;ENSP00000377195:D502A;ENSP00000423208:D188A;ENSP00000377193:D188A	ENSP00000292385:D458A	D	-	2	0	DBN1	176818074	0.000000	0.05858	0.198000	0.23420	0.036000	0.12997	-0.188000	0.09642	-0.290000	0.09025	-0.865000	0.03005	GAC	.		0.617	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		G	176885468	T	G	176885468	3	3	59	1	0	0	0	0	1	0	0	0	4261	1667	58	5	594	5	DBN1	5	176885468	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	579987	176885468	4029792	79	12049											
DBN1	1627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	176894041	176894041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccttcttccgctcctccTccttccgcagctcttcttcc	6	20	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr5:176894041T>G	ENST00000309007.5	-	7	797	c.578A>C	c.(577-579)gAg>gCg	p.E193A	DBN1_ENST00000393565.1_Missense_Mutation_p.E193A|DBN1_ENST00000292385.5_Missense_Mutation_p.E195A	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	193					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTCCTCCTCCTTCCGCAG	0.677																																					p.E195A		.											.	DBN1-587	0			c.A584C						.						67	72	70					5																	176894041		2203	4300	6503	SO:0001583	missense	1627	exon8			TCCTCCTCCTTCC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.578A>C	5.37:g.176894041T>G	ENSP00000308532:p.Glu193Ala	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	95	8	NM_080881	0	0	0	0	0	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925710	0.73213	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.43688	0.94;0.94;1.66	4.99	4.99	0.66335	.	0.053586	0.64402	D	0.000001	T	0.51261	0.1664	L	0.28192	0.835	0.80722	D	1	D;D;P;D	0.89917	1.0;0.961;0.951;0.971	D;P;P;P	0.85130	0.997;0.696;0.525;0.79	T	0.53697	-0.8402	10	0.52906	T	0.07	-20.8442	14.5249	0.67881	0.0:0.0:0.0:1.0	.	143;193;193;195	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	A	193;195;193;192	ENSP00000308532:E193A;ENSP00000292385:E195A;ENSP00000377195:E193A	ENSP00000292385:E195A	E	-	2	0	DBN1	176826647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.161000	0.50747	2.091000	0.63221	0.533000	0.62120	GAG	.		0.677	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		G	176894041	T	G	176894041	3	3	59	1	0	0	0	0	1	0	0	0	4261	1551	54	5	1403	5	DBN1	5	176894041	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	8573	176894041	4021219	80	12050											
FOXQ1	94234	hgsc.bcm.edu	37	chr6	1313117	1313117	+	Missense_Mutation	SNP	A	A	C													cgggcggcggcgccagagatAcgcagggcgacggcgaacag					rs9502889	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:1313117A>C	ENST00000296839.2	+	1	443	c.178A>C	c.(178-180)Acg>Ccg	p.T60P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	60	Ala/Gly-rich.		T -> P (in dbSNP:rs9502889). {ECO:0000269|PubMed:11747606, ECO:0000269|PubMed:15489334}.		hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		cgccagagatacgcagggcga	0.781													C|||	4155	0.829673	0.8268	0.817	5008	,	,		7725	0.6478		0.9811	False		,,,				2504	0.8742				p.T60P		.											.	FOXQ1-226	0			c.A178C						.	C	PRO/THR	1459,205		630,199,3	1	2	2		178	2	0	6	dbSNP_119	2	3448,86		1681,86,0	no	missense	FOXQ1	NM_033260.3	38	2311,285,3	CC,CA,AA		2.4335,12.3197,5.5983	benign	60/404	1313117	4907,291	832	1767	2599	SO:0001583	missense	94234	exon1			AGAGATACGCAGG	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.178A>C	6.37:g.1313117A>C	ENSP00000296839:p.Thr60Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_033260	0	0	0	0	0	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	1832	0.8388278388278388	418	0.8495934959349594	299	0.8259668508287292	378	0.6608391608391608	737	0.9722955145118733	C	2.302	-0.359998	0.05103	0.876803	0.975665	ENSG00000164379	ENST00000296839	T	0.42513	0.97	2.88	1.96	0.26148	.	1.166200	0.06867	N	0.800158	T	0.07143	0.0181	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.30078	T	0.28	.	2.761	0.05306	0.229:0.5157:0.0:0.2553	rs9502889;rs17857429	60	Q9C009	FOXQ1_HUMAN	P	60	ENSP00000296839:T60P	ENSP00000296839:T60P	T	+	1	0	FOXQ1	1258117	0.000000	0.05858	0.011000	0.14972	0.029000	0.11900	-0.022000	0.12480	0.431000	0.26258	-0.506000	0.04501	ACG	A|0.161;C|0.839		0.781	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		C	1313117	A	C	1313117	3	2	59	1	0	0	0	0	1	0	0	0	6054	391	14	5	180	5	FOXQ1	6	1313117	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10		1313117	169801950	81	12051	117	2									
FOXQ1	94234	hgsc.bcm.edu	37	chr6	1313121	1313121	+	Missense_Mutation	SNP	A	A	C													cggcggcgccagagatacgcAgggcgacggcgaacagagtg					rs9502890	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:1313121A>C	ENST00000296839.2	+	1	447	c.182A>C	c.(181-183)cAg>cCg	p.Q61P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	61	Ala/Gly-rich.		Q -> P (in dbSNP:rs9502890). {ECO:0000269|PubMed:11747606, ECO:0000269|PubMed:15489334}.		hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		agagatacgcagggcgacggc	0.786													C|||	4155	0.829673	0.8268	0.817	5008	,	,		7820	0.6478		0.9811	False		,,,				2504	0.8742				p.Q61P		.											.	FOXQ1-226	0			c.A182C						.	C	PRO/GLN	1291,195		553,185,5	1	2	1		182	-6	0	6	dbSNP_119	1	3133,85		1524,85,0	no	missense	FOXQ1	NM_033260.3	76	2077,270,5	CC,CA,AA		2.6414,13.1225,5.9524	benign	61/404	1313121	4424,280	743	1609	2352	SO:0001583	missense	94234	exon1			ATACGCAGGGCGA	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.182A>C	6.37:g.1313121A>C	ENSP00000296839:p.Gln61Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_033260	0	0	0	0	0	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	1806	0.8269230769230769	387	0.7865853658536586	298	0.8232044198895028	383	0.6695804195804196	738	0.9736147757255936	C	1.298	-0.605630	0.03717	0.868775	0.973586	ENSG00000164379	ENST00000296839	T	0.41758	0.99	3.01	-6.03	0.02185	.	5.999610	0.01694	N	0.026822	T	0.05502	0.0145	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06552	-1.0820	9	0.30078	T	0.28	.	2.125	0.03736	0.2444:0.1884:0.4343:0.1329	rs9502890;rs17857430	61	Q9C009	FOXQ1_HUMAN	P	61	ENSP00000296839:Q61P	ENSP00000296839:Q61P	Q	+	2	0	FOXQ1	1258121	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	-0.174000	0.09839	-1.850000	0.01169	-1.043000	0.02367	CAG	A|0.173;C|0.827		0.786	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		C	1313121	A	C	1313121	3	2	59	1	0	0	0	0	1	0	0	0	6054	188	7	5	184	5	FOXQ1	6	1313121	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	4	1313121	169801946	82	12052	117	2									
BAT4	7918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31630170	31630170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccctcccagccacagctCgggtatcccaagctgggaaa	9	16	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:31630170C>T	ENST00000375906.1	-	4	1628	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	C6orf47-AS1_ENST00000422049.1_RNA|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R315Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R315Q|GPANK1_ENST00000375896.4_Missense_Mutation_p.R315Q|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.R315Q|C6orf47_ENST00000375911.1_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	315							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGCCACAGCTCGGGTATCCCA	0.617																																					p.R315Q		.											.	GPANK1-91	0			c.G944A						.						87	89	88					6																	31630170		1510	2709	4219	SO:0001583	missense	7918	exon4			ACAGCTCGGGTAT		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.944G>A	6.37:g.31630170C>T	ENSP00000365071:p.Arg315Gln	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	210	32	NM_001199238	0	0	0	0	0	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810720	0.50421	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.0	4.13	0.48395	.	0.471361	0.21390	N	0.075326	T	0.02688	0.0081	L	0.50919	1.6	0.30408	N	0.779341	B	0.16166	0.016	B	0.06405	0.002	T	0.35375	-0.9791	10	0.33141	T	0.24	-7.7347	6.416	0.21717	0.1792:0.7292:0.0:0.0916	.	315	O95872	GPAN1_HUMAN	Q	315	ENSP00000365071:R315Q;ENSP00000365060:R315Q;ENSP00000365057:R315Q;ENSP00000365059:R315Q;ENSP00000365065:R315Q	ENSP00000365057:R315Q	R	-	2	0	GPANK1	31738149	0.532000	0.26346	1.000000	0.80357	0.586000	0.36452	1.195000	0.32186	1.333000	0.45449	-0.150000	0.13652	CGA	.		0.617	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		T	31630170	C	T	31630170	3	4	59	1	0	0	0	0	1	0	0	0	1324	884	31	1	130	1	BAT4	6	31630170	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	30317049	31630170	139484897	83	12053											
STK19	8859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	31940267	31940267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcgagggcctgtggagtcgGatcctcttcggggtgagcca	17	10	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:31940267G>C	ENST00000375333.2	+	2	462	c.409G>C	c.(409-411)Gat>Cat	p.D137H	DXO_ENST00000478221.1_5'Flank|DXO_ENST00000337523.5_5'Flank|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.D137H|STK19_ENST00000463823.1_3'UTR|DXO_ENST00000375349.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	137					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						TGTGGAGTCGGATCCTCTTCG	0.612																																					p.D137H		.											.	STK19-336	0			c.G409C						.						44	57	52					6																	31940267		1510	2709	4219	SO:0001583	missense	8859	exon2			GAGTCGGATCCTC	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.409G>C	6.37:g.31940267G>C	ENSP00000364482:p.Asp137His	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	38	8	NM_032454	0	0	0	0	0	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774121	0.49786	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.29917	1.55;1.56	4.51	3.64	0.41730	.	0.823268	0.11138	N	0.595623	T	0.28200	0.0696	L	0.29908	0.895	0.40378	D	0.97941	D;D;D;D;D	0.89917	0.977;1.0;0.995;0.977;0.976	P;D;D;P;P	0.73380	0.62;0.98;0.912;0.62;0.556	T	0.06570	-1.0819	10	0.59425	D	0.04	-8.5563	8.4493	0.32860	0.107:0.0:0.893:0.0	.	94;137;137;137;94	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	H	137	ENSP00000364480:D137H;ENSP00000364482:D137H	ENSP00000364480:D137H	D	+	1	0	STK19	32048246	0.261000	0.24063	0.872000	0.34217	0.088000	0.18126	2.838000	0.48199	1.257000	0.44085	0.655000	0.94253	GAT	.		0.612	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			C	31940267	G	C	31940267	3	2	59	1	0	0	0	0	1	0	0	0	15339	1174	41	3	415	3	STK19	6	31940267	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	310097	31940267	139174800	84	12054											
ITPR3	3710	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33651116	33651116	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaccacgcgggccttccCccgcgtcacccccaccgcca	9	23	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:33651116C>G	ENST00000374316.5	+	36	5790	c.4730C>G	c.(4729-4731)cCc>cGc	p.P1577R	ITPR3_ENST00000605930.1_Missense_Mutation_p.P1577R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1577					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)	CGGGCCTTCCCCCGCGTCACC	0.647																																					p.P1577R		.											.	ITPR3-1085	0			c.C4730G						.						23	19	20					6																	33651116		2196	4296	6492	SO:0001583	missense	3710	exon35			CCTTCCCCCGCGT	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.4730C>G	6.37:g.33651116C>G	ENSP00000363435:p.Pro1577Arg	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	226	64	NM_002224	0	0	0	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092409	0.55968	.	.	ENSG00000096433	ENST00000374316	T	0.62232	0.04	4.71	4.71	0.59529	.	0.000000	0.56097	D	0.000028	T	0.48857	0.1523	L	0.36672	1.1	0.49051	D	0.999742	P	0.52577	0.954	P	0.55577	0.779	T	0.53809	-0.8386	10	0.02654	T	1	-31.3777	17.6627	0.88196	0.0:1.0:0.0:0.0	.	1577	Q14573	ITPR3_HUMAN	R	1577	ENSP00000363435:P1577R	ENSP00000363435:P1577R	P	+	2	0	ITPR3	33759094	0.727000	0.28069	0.991000	0.47740	0.869000	0.49853	2.019000	0.41001	2.173000	0.68751	0.561000	0.74099	CCC	.		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33651116	C	G	33651116	3	3	59	1	0	0	0	0	1	0	0	0	7949	623	22	3	4868	3	ITPR3	6	33651116	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1710849	33651116	137463951	85	12055											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_000287	0	0	0	0	0	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	59	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	9295374	42946490	128168577	86	12056											
CENPQ	55166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	49456158	49456158	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agattctggcaagtgaggtgGaagaagaagaggagagagta	17	2	1	6			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:49456158G>T	ENST00000335783.3	+	7	665	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	191					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAGTGAGGTGGAAGAAGAAGA	0.323																																					p.E191X		.											.	CENPQ-92	0			c.G571T						.						67	70	69					6																	49456158		2203	4298	6501	SO:0001587	stop_gained	55166	exon7			GAGGTGGAAGAAG	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.571G>T	6.37:g.49456158G>T	ENSP00000337289:p.Glu191*	Somatic	228	0		WXS	Illumina GAIIx	Phase_I	176	31	NM_018132	0	0	0	0	0	A8KAF1|Q6IN61|Q9NVS5	Nonsense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210122	0.39003	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	.	.	.	5.73	3.0	0.34707	.	0.111657	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.2358	6.2777	0.20989	0.1636:0.1519:0.6846:0.0	.	.	.	.	X	191	.	ENSP00000337289:E191X	E	+	1	0	CENPQ	49564117	1.000000	0.71417	0.531000	0.27976	0.084000	0.17831	3.392000	0.52537	0.453000	0.26858	-0.147000	0.13772	GAA	.		0.323	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		T	49456158	G	T	49456158	4	4	59	1	0	0	0	0	0	1	0	0	3248	1175	41	3	593	3	CENPQ	6	49456158	Nonsense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6509668	49456158	121658909	87	12057											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56391195	56391195	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggctgcatcgatctcctcCaccttctgagtgatggtgtc	10	12	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:56391195C>A	ENST00000361203.3	-	64	17140	c.17133G>T	c.(17131-17133)gtG>gtT	p.V5711V	DST_ENST00000370754.5_Silent_p.V6000V|DST_ENST00000421834.2_Silent_p.V3734V|DST_ENST00000244364.6_Silent_p.V3408V|DST_ENST00000446842.2_Silent_p.V5496V|DST_ENST00000370769.4_Silent_p.V5822V|DST_ENST00000370788.2_Silent_p.V3625V|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5711					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)			CGATCTCCTCCACCTTCTGAG	0.473																																					p.V3408V		.											.	DST-523	0			c.G10224T						.						194	177	183					6																	56391195		1988	4175	6163	SO:0001819	synonymous_variant	667	exon50			CTCCTCCACCTTC	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.17133G>T	6.37:g.56391195C>A		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	149	38	NM_015548	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																				.		0.473	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56391195	C	A	56391195	2	1	59	1	0	0	0	0	0	0	0	1	4797	581	21	3		3	DST	6	56391195	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	6935037	56391195	114723872	88	12058											
PHF3	23469	broad.mit.edu	37	chr6	64422984	64422984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtttggatttccaccaCatttgccacctccattactt	5	13	0	0	rs3734881	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:64422984C>T	ENST00000262043.3	+	16	5840	c.5500C>T	c.(5500-5502)Cat>Tat	p.H1834Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H1834Y			Q92576	PHF3_HUMAN	PHD finger protein 3	1834	Pro-rich.		H -> Y (in dbSNP:rs3734881).		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)			ATTTCCACCACATTTGCCACC	0.527													C|||	14	0.00279553	0	0	5008	,	,		16983	0.0129		0	False		,,,				2504	0.001				p.H1834Y	GBM(135;136 1820 29512 34071 46235)	.											.	PHF3-229	0			c.C5500T						.						147	153	151					6																	64422984		2203	4300	6503	SO:0001583	missense	23469	exon15			CCACCACATTTGC	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.5500C>T	6.37:g.64422984C>T	ENSP00000262043:p.His1834Tyr	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	26	3	NM_015153	0	0	0	0	0	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	11.47	1.649003	0.29336	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21543	2.0;2.0	5.97	5.11	0.69529	.	0.000000	0.40728	N	0.001030	T	0.07279	0.0184	L	0.29908	0.895	0.43095	D	0.994777	B	0.22851	0.076	B	0.18263	0.021	T	0.12578	-1.0542	9	.	.	.	-11.9825	15.3109	0.74031	0.0:0.9331:0.0:0.0669	rs3734881;rs52827350;rs3734881	1834	Q92576	PHF3_HUMAN	Y	1834	ENSP00000262043:H1834Y;ENSP00000377048:H1834Y	.	H	+	1	0	PHF3	64480943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.236000	0.51336	1.539000	0.49286	0.655000	0.94253	CAT	C|0.995;T|0.005		0.527	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64422984	C	T	64422984	3	4	59	1	0	0	0	0	1	0	0	0	11875	478	17	3	5558	3	PHF3	6	64422984	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	8031789	64422984	106692083	89	12059											
RAET1G	353091	bcgsc.ca	37	chr6	150240829	150240829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggactgacgggtgtgactGtcttgctgccacagtcatag	15	9	2	2	rs9397449	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:150240829G>C	ENST00000367360.2	-	2	276	c.209C>G	c.(208-210)aCa>aGa	p.T70R	RAET1E-AS1_ENST00000446954.2_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T70R|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GGGTGTGACTGTCTTGCTGCC	0.517													g|||	1132	0.226038	0.1021	0.111	5008	,	,		20972	0.5317		0.1501	False		,,,				2504	0.2382				p.T70R		.											.	RAET1G-90	0			c.C209G						.	C	ARG/THR	492,3914	780.8+/-414.5	27,438,1738	278	261	267		209	-2	0	6	dbSNP_119	267	1130,7470	767.0+/-407.6	83,964,3253	no	missense	RAET1G	NM_001001788.2	71	110,1402,4991	CC,CG,GG		13.1395,11.1666,12.4712	benign	70/335	150240829	1622,11384	2203	4300	6503	SO:0001583	missense	353091	exon2			GTGACTGTCTTGC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.209C>G	6.37:g.150240829G>C	ENSP00000356329:p.Thr70Arg	Somatic	593	7		WXS	Illumina GAIIx	Phase_I	604	16	NM_001001788	0	0	0	0	0		Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	503	0.2303113553113553	47	0.09552845528455285	46	0.1270718232044199	308	0.5384615384615384	102	0.1345646437994723	C	2.358	-0.347240	0.05208	0.111666	0.131395	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00626	6.13;6.13	2.4	-2.05	0.07321	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00144	0.0004	L	0.29908	0.895	0.80722	P	0.0	B	0.21688	0.059	B	0.26094	0.066	T	0.43540	-0.9385	8	0.02654	T	1	.	0.992	0.01459	0.1668:0.1581:0.398:0.2771	rs9397449;rs60358512;rs9397449	70	Q6H3X3	RET1G_HUMAN	R	70	ENSP00000356329:T70R;ENSP00000417503:T70R	ENSP00000356329:T70R	T	-	2	0	RAET1G	150282522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.137000	0.01304	-0.955000	0.03636	-3.292000	0.00046	ACA	G|0.807;C|0.193		0.517	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			C	150240829	G	C	150240829	3	2	59	1	0	0	0	0	1	0	0	0	13045	1377	48	3	811	3	RAET1G	6	150240829	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	85817845	150240829	20874238	90	12060											
SYTL3	94120	bcgsc.ca	37	chr6	159178345	159178345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttggagaagtgatcattCctctggccacgtgggacttt	11	9	3	2	rs901363	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr6:159178345C>T	ENST00000297239.9	+	13	1434	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	SYTL3_ENST00000367081.3_Missense_Mutation_p.P140S|SYTL3_ENST00000360448.3_Missense_Mutation_p.P346S			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	414			P -> S (in dbSNP:rs901363).		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)		AGTGATCATTCCTCTGGCCAC	0.612													C|||	2249	0.449081	0.2753	0.598	5008	,	,		14777	0.7361		0.328	False		,,,				2504	0.407				p.P414S		.											.	SYTL3-90	0			c.C1240T						.	C	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1241,3165	429.1+/-342.1	182,877,1144	92	78	83		1036,1240,1240,1036	5.1	1	6	dbSNP_86	83	2893,5707	452.8+/-363.1	496,1901,1903	yes	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	74,74,74,74	678,2778,3047	TT,TC,CC		33.6395,28.1661,31.7853	probably-damaging,probably-damaging,probably-damaging,probably-damaging	346/543,414/611,414/611,346/543	159178345	4134,8872	2203	4300	6503	SO:0001583	missense	94120	exon15			ATCATTCCTCTGG	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.1240C>T	6.37:g.159178345C>T	ENSP00000297239:p.Pro414Ser	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	121	7	NM_001242384	0	0	0	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	1012	0.4633699633699634	146	0.2967479674796748	188	0.5193370165745856	437	0.763986013986014	241	0.3179419525065963	C	18.21	3.572424	0.65765	0.281661	0.336395	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.08370	3.1;3.1;3.1	5.07	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	M	0.74881	2.28	0.20563	P	0.999887067	P;P;P	0.45212	0.791;0.853;0.851	B;B;B	0.42692	0.332;0.288;0.395	T	0.29458	-1.0011	9	0.20519	T	0.43	-17.7371	12.8384	0.57786	0.0:0.9208:0.0:0.0792	rs901363;rs59429263;rs901363	140;414;346	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	S	346;414;414;140	ENSP00000353631:P346S;ENSP00000297239:P414S;ENSP00000356048:P140S	ENSP00000297239:P414S	P	+	1	0	SYTL3	159098333	0.999000	0.42202	0.980000	0.43619	0.951000	0.60555	2.629000	0.46485	2.356000	0.79943	0.491000	0.48974	CCT	C|0.605;T|0.395		0.612	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			T	159178345	C	T	159178345	3	4	59	1	0	0	0	0	1	0	0	0	15531	855	30	3	1070	3	SYTL3	6	159178345	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	8937516	159178345	11936722	91	12061											
GARS	2617	hgsc.bcm.edu	37	chr7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcgcggcctcctgcCccccgatctccttgcccgcc	8	24	2	0	rs1049402	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5	8	7		124	-6.6	0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	19	NM_002047	0	0	0	0	0	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		G	30634661	C	G	30634661	3	3	59	1	0	0	0	0	1	0	0	0	6267	623	22	3	126	3	GARS	7	30634661	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		30634661	128504002	92	12062											
ANLN	54443	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	36436004	36436006	+	In_Frame_Del	DEL	CAG	CAG	-													cactttcagaagcaagtaacCagcagcccctctctggtggt							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CAG	CAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:36436004_36436006delCAG	ENST00000265748.2	+	2	369_371	c.148_150delCAG	c.(148-150)cagdel	p.Q51del	ANLN_ENST00000396068.2_In_Frame_Del_p.Q51del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	51	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAGTAACCAGCAGCCCCTCT	0.438																																					p.50_50del		.											.	ANLN-517	0			c.148_150del						.																																			SO:0001651	inframe_deletion	54443	exon2			AGTAACCAGCAGC	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.148_150delCAG	7.37:g.36436007_36436009delCAG	ENSP00000265748:p.Gln51del	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	103	25	NM_018685	0	0	0	0	0	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	In_Frame_Del	DEL	ENST00000265748.2	37	CCDS5447.1																																																																																			.		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		-	36436006	CAG	-	36436004	7	5	59	1	0	1	0	1	0	0	0	0	694	595	21	0	154	0	ANLN	7	36436004	In_Frame_Del	DEL	CAG	TCGA-P6-A5OH-01A-11D-A30A-10	5801343	36436004	122702659	93	12063											
GLI3	2737	broad.mit.edu;bcgsc.ca	37	chr7	42005406	42005406	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgtccggcaggaaatcctCatcgttcaggttggcatcag	12	11	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:42005406C>T	ENST00000395925.3	-	15	3349	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1089					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGAAATCCTCATCGTTCAGG	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.E1089K		.											.	GLI3-1149	0			c.G3265A						.						84	84	84					7																	42005406		2203	4300	6503	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	AATCCTCATCGTT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3265G>A	7.37:g.42005406C>T	ENSP00000379258:p.Glu1089Lys	Somatic	215	0		WXS	Illumina GAIIx	Phase_I	307	11	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997459	0.93227	.	.	ENSG00000106571	ENST00000395925	T	0.15139	2.45	5.17	5.17	0.71159	.	0.139892	0.64402	D	0.000004	T	0.19604	0.0471	N	0.22421	0.69	0.80722	D	1	P	0.50943	0.94	P	0.49752	0.621	T	0.02275	-1.1184	10	0.24483	T	0.36	.	19.0412	0.93000	0.0:1.0:0.0:0.0	.	1089	P10071	GLI3_HUMAN	K	1089	ENSP00000379258:E1089K	ENSP00000379258:E1089K	E	-	1	0	GLI3	41971931	1.000000	0.71417	0.991000	0.47740	0.841000	0.47740	5.902000	0.69869	2.561000	0.86390	0.563000	0.77884	GAG	.		0.587	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42005406	C	T	42005406	3	4	59	1	0	0	0	0	1	0	0	0	6465	835	29	3	1481	3	GLI3	7	42005406	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	5569402	42005406	117133257	94	12064											
GLI3	2737	hgsc.bcm.edu	37	chr7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcacgccgtggcccGgcgcatcgtgcggctgcagg	14	18	1	0	rs929387	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4	5	5	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_000168	0	0	0	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42005678	G	A	42005678	3	1	59	1	0	0	0	0	1	0	0	0	6465	1116	39	1	1753	1	GLI3	7	42005678	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	272	42005678	117132985	95	12065											
WBSCR22	114049	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	73101340	73101340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctaatgtagatgaggctgtgGaccgagagatagagggagac	16	5	0	5			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:73101340G>C	ENST00000265758.2	+	5	335	c.277G>C	c.(277-279)Gac>Cac	p.D93H	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.D93H	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	93					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)				TGAGGCTGTGGACCGAGAGAT	0.522																																					p.D93H		.											.	WBSCR22-90	0			c.G277C						.						72	74	73					7																	73101340		2203	4300	6503	SO:0001583	missense	114049	exon5			GCTGTGGACCGAG	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.277G>C	7.37:g.73101340G>C	ENSP00000265758:p.Asp93His	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_001202560	0	0	0	0	0	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948457	0.53186	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	T;T	0.44083	0.93;0.93	4.69	4.69	0.59074	Methyltransferase type 11 (1);	0.213278	0.49916	D	0.000137	T	0.52208	0.1720	L	0.38175	1.15	0.80722	D	1	D;D	0.62365	0.979;0.991	P;D	0.64877	0.873;0.93	T	0.52049	-0.8627	10	0.51188	T	0.08	-13.4174	15.1268	0.72489	0.0:0.0:1.0:0.0	.	93;93	C9K060;O43709	.;WBS22_HUMAN	H	93	ENSP00000265758:D93H;ENSP00000401191:D93H	ENSP00000265758:D93H	D	+	1	0	WBSCR22	72739276	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.387000	0.79785	2.432000	0.82394	0.555000	0.69702	GAC	.		0.522	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			C	73101340	G	C	73101340	3	2	59	1	0	0	0	0	1	0	0	0	17314	1174	41	3	295	3	WBSCR22	7	73101340	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	31095662	73101340	86037323	96	12066											
TFPI2	7980	bcgsc.ca	37	chr7	93518486	93518486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacttttctgtggacccCtcacactggtcgtccacact	6	14	2	0	rs34489123	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:93518486C>T	ENST00000222543.5	-	3	633	c.321G>A	c.(319-321)gaG>gaA	p.E107E	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	107	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond. {ECO:0000250}.			blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGTGGACCCCTCACACTGGT	0.438													C|||	505	0.100839	0.1029	0.1369	5008	,	,		17172	0.1538		0.0358	False		,,,				2504	0.0849				p.E107E		.											.	TFPI2-515	0			c.G321A						.	C		465,3941	201.8+/-224.7	23,419,1761	67	78	75		321	-9	0	7	dbSNP_126	75	173,8427	74.5+/-137.1	6,161,4133	no	coding-synonymous	TFPI2	NM_006528.2		29,580,5894	TT,TC,CC		2.0116,10.5538,4.9054		107/236	93518486	638,12368	2203	4300	6503	SO:0001819	synonymous_variant	7980	exon3			GGACCCCTCACAC	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.321G>A	7.37:g.93518486C>T		Somatic	110	0		WXS	Illumina GAIIx	Phase_I	89	6	NM_006528	0	0	0	0	0	Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	CCDS5632.1																																																																																			C|0.942;T|0.058		0.438	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		T	93518486	C	T	93518486	2	4	59	1	0	0	0	0	0	0	0	1	15856	680	24	3		3	TFPI2	7	93518486	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	20417146	93518486	65620177	97	12067											
AP1S1	1174	broad.mit.edu	37	chr7	100800053	100800053	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaagttgtctataagaGgtgactccccacctactttc	6	13	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:100800053G>C	ENST00000337619.5	+	2	300	c.182G>C	c.(181-183)aGa>aCa	p.R61T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GTCTATAAGAGGTGACTCCCC	0.532																																					p.R61T		.											.	AP1S1-226	0			c.G182C						.						35	38	37					7																	100800053		1966	4145	6111	SO:0001630	splice_region_variant	1174	exon2			ATAAGAGGTGACT	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.182+1G>C	7.37:g.100800053G>C		Somatic	25	0		WXS	Illumina GAIIx	Phase_I	29	3	NM_001283	0	0	0	0	0	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274803|5.274803	0.95459|0.95459	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000429457|ENST00000337619	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86041|0.86041	0.5838|0.5838	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.76575	.|0.988	D|D	0.89017|0.89017	0.3432|0.3432	5|9	.|0.87932	.|D	.|0	-6.393|-6.393	17.0798|17.0798	0.86595|0.86595	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|61	.|P61966	.|AP1S1_HUMAN	H|T	103|61	.|.	.|ENSP00000336666:R61T	D|R	+|+	1|2	0|0	AP1S1|AP1S1	100586773|100586773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.186000|9.186000	0.94906|0.94906	2.696000|2.696000	0.92011|0.92011	0.561000|0.561000	0.74099|0.74099	GAT|AGA	.		0.532	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	Missense_Mutation	C	100800053	G	C	100800053	5	2	59	1	0	0	0	0	0	0	1	0	736	1014	35	3	188	3	AP1S1	7	100800053	Splice_Site	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	7281567	100800053	58338610	98	12068											
GPR85	54329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	112724050	112724050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaaatcctgctagccAattggcagctgcctggccac	8	16	0	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:112724050A>G	ENST00000297146.3	-	3	1330	c.727T>C	c.(727-729)Tgg>Cgg	p.W243R	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.W243R|GPR85_ENST00000424100.1_Missense_Mutation_p.W243R|GPR85_ENST00000449591.1_Missense_Mutation_p.W243R	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	243					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						CCTGCTAGCCAATTGGCAGCT	0.532																																					p.W243R		.											.	GPR85-91	0			c.T727C						.						80	87	85					7																	112724050		2203	4300	6503	SO:0001583	missense	54329	exon3			CTAGCCAATTGGC	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.727T>C	7.37:g.112724050A>G	ENSP00000297146:p.Trp243Arg	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	102	7	NM_001146265	0	0	0	0	0	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502040	0.44455	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.52	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.59332	-0.7474	10	0.14656	T	0.56	.	12.8633	0.57926	0.8639:0.1361:0.0:0.0	.	243	P60893	GPR85_HUMAN	R	243	ENSP00000445808:W243R;ENSP00000297146:W243R;ENSP00000396763:W243R;ENSP00000401178:W243R	ENSP00000297146:W243R	W	-	1	0	GPR85	112511286	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.287000	0.95975	1.001000	0.39076	0.528000	0.53228	TGG	.		0.532	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			G	112724050	A	G	112724050	3	3	59	1	0	0	0	0	1	0	0	0	6741	130	5	4	389	4	GPR85	7	112724050	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	11923997	112724050	46414613	99	12069											
KCND2	3751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	119915231	119915231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaacccccacaccagcaCgatggccctggtgttctact	9	16	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:119915231C>T	ENST00000331113.4	+	1	1510	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	182					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACACCAGCACGATGGCCCTG	0.607																																					p.T182M		.											.	KCND2-517	0			c.C545T						.						79	76	77					7																	119915231		2203	4300	6503	SO:0001583	missense	3751	exon1			CCAGCACGATGGC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.545C>T	7.37:g.119915231C>T	ENSP00000333496:p.Thr182Met	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	122	27	NM_012281	0	0	0	0	0	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137012	0.77775	.	.	ENSG00000184408	ENST00000331113	D	0.97430	-4.38	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	M	0.83312	2.635	0.80722	D	1	D	0.57257	0.979	P	0.47915	0.561	D	0.97468	1.0039	9	.	.	.	.	19.5831	0.95478	0.0:1.0:0.0:0.0	.	182	Q9NZV8	KCND2_HUMAN	M	182	ENSP00000333496:T182M	.	T	+	2	0	KCND2	119702467	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	5.999000	0.70665	2.641000	0.89580	0.563000	0.77884	ACG	.		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915231	C	T	119915231	3	4	59	1	0	0	0	0	1	0	0	0	8046	536	19	1	547	1	KCND2	7	119915231	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	7191181	119915231	39223432	100	12070											
SSPO	23145	hgsc.bcm.edu	37	chr7	149476671	149476672	+	RNA	DNP	TG	TG	CT													cccagggctgtgacagccccTggggctcatagacgcagatg					rs201032059		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr7:149476671_149476672TG>CT	ENST00000378016.2	+	0	1121_1122							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)			TGACAGCCCCTGGGGCTCATAG	0.619																																					.		.											.	.	0			c.G1122T						.																																					23145	exon10			GCCCCTGGGGCTC	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.149476671_149476672delinsCT		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	313	0	NM_198455	0	0	0	0	0	Q76B61	Silent	DNP	ENST00000378016.2	37																																																																																				.		0.619	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				CT	149476672	TG	CT	149476671	1	2	59	0	1	0	0	0	0	0	0	0	15236	1580	55	4		4	SSPO	7	149476671	RNA	DNP	TG	TCGA-P6-A5OH-01A-11D-A30A-10	29561440	149476671	9661992	101	12071											
GPR124	25960	broad.mit.edu	37	chr8	37686785	37686785	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtgtctctctagagatctCtccaacaaccggattggctg	9	12	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:37686785C>T	ENST00000412232.2	+	4	430	c.417C>T	c.(415-417)ctC>ctT	p.L139L	GPR124_ENST00000315215.7_Silent_p.L139L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	139					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTAGAGATCTCTCCAACAACC	0.597																																					p.L139L		.											.	GPR124-157	0			c.C417T						.						89	80	83					8																	37686785		2203	4300	6503	SO:0001819	synonymous_variant	25960	exon4			AGATCTCTCCAAC	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.417C>T	8.37:g.37686785C>T		Somatic	57	2		WXS	Illumina GAIIx	Phase_I	79	17	NM_032777	0	0	0	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																			.		0.597	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37686785	C	T	37686785	2	4	59	1	0	0	0	0	0	0	0	1	6664	900	32	3		3	GPR124	8	37686785	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		37686785	108677237	102	12072											
TGS1	96764	bcgsc.ca	37	chr8	56705325	56705325	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggttcccttctaggattcaAgtatggctcaggacaaaagt	10	8	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:56705325A>T	ENST00000260129.5	+	6	1826	c.1349A>T	c.(1348-1350)aAg>aTg	p.K450M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	450					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CTAGGATTCAAGTATGGCTCA	0.373																																					p.K450M	Esophageal Squamous(34;275 823 4842 34837 48447)	.											.	TGS1-227	0			c.A1349T						.						123	117	119					8																	56705325		2203	4300	6503	SO:0001583	missense	96764	exon6			GATTCAAGTATGG	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1349A>T	8.37:g.56705325A>T	ENSP00000260129:p.Lys450Met	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	55	4	NM_024831	0	0	0	0	0	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021903	0.75275	.	.	ENSG00000137574	ENST00000260129	T	0.52754	0.65	6.07	3.57	0.40892	.	0.553053	0.21121	N	0.079811	T	0.62282	0.2415	M	0.69823	2.125	0.36397	D	0.862856	D;D	0.69078	0.997;0.997	P;P	0.61070	0.883;0.873	T	0.69815	-0.5043	10	0.87932	D	0	-4.1483	11.3139	0.49379	0.757:0.0:0.0:0.243	.	450;450	B2RBJ7;Q96RS0	.;TGS1_HUMAN	M	450	ENSP00000260129:K450M	ENSP00000260129:K450M	K	+	2	0	TGS1	56867879	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.783000	0.62403	0.460000	0.27045	0.533000	0.62120	AAG	.		0.373	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		T	56705325	A	T	56705325	3	4	59	1	0	0	0	0	1	0	0	0	15884	72	3	5	1371	5	TGS1	8	56705325	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	19018540	56705325	89658697	103	12073											
ZNF696	79943	hgsc.bcm.edu	37	chr8	144378868	144378868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttccggcaccagcgActccacacgggcgagaagcc	12	16	1	1	rs7386259	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5	5	5		1023	-0.3	0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	27	9	NM_030895	0	0	0	0	0	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		G	144378868	A	G	144378868	2	3	59	1	0	0	0	0	0	0	0	1	18147	262	10	4		4	ZNF696	8	144378868	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	87673543	144378868	1985154	104	12074											
C8orf73	642475	hgsc.bcm.edu	37	chr8	144649625	144649625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggggtcgctctgcagTcgccctaggtctgcgaggag	17	11	2	0	rs10097556	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	648																	CGCTCTGCAGTCGCCCTAGGT	0.771													C|||	4736	0.945687	0.8041	0.9841	5008	,	,		9094	1		0.998	False		,,,				2504	1				p.R648R		.											.	.	0			c.A1944G						.						2	3	2					8																	144649625		1227	2564	3791	SO:0001819	synonymous_variant	642475	exon14			CTGCAGTCGCCCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1944A>G	8.37:g.144649625T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_001100878	0	0	0	0	0	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.058;C|0.942		0.771	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144649625	T	C	144649625	2	2	59	1	0	0	0	0	0	0	0	1	2442	1654	58	4		4	C8orf73	8	144649625	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	270757	144649625	1714397	105	12075											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcccacctgctcctgcCgcagctgctcccgcacagcc	8	22	0	0	rs11136334	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12	16	15		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	35	11	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001588	C	T	145001588	3	4	59	1	0	0	0	0	1	0	0	0	12091	652	23	1	9921	1	PLEC	8	145001588	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	351963	145001588	1362434	106	12076											
PLEC	5339	hgsc.bcm.edu	37	chr8	145001784	145001784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccagcgctcaagcaActgggcgacccgctcccgcc	11	19	1	0	rs3135109	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000398774.2_Silent_p.L1152L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5	6	6		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	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.3961T>C	8.37:g.145001784A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	23	5	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	145001784	A	G	145001784	2	3	59	1	0	0	0	0	0	0	0	1	12091	40	2	4		4	PLEC	8	145001784	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	196	145001784	1362238	107	12077											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	59	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	1031563	146033347	330675	108	12078											
TPD52L3	89882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	6328653	6328653	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaatcccactcgacttctGaactggaggatctgacagag	10	10	2	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:6328653G>C	ENST00000344545.5	+	1	305	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	TPD52L3_ENST00000381428.1_Missense_Mutation_p.E20Q|TPD52L3_ENST00000314556.3_Missense_Mutation_p.E20Q	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	20										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CTCGACTTCTGAACTGGAGGA	0.493																																					p.E20Q		.											.	TPD52L3-68	0			c.G58C						.						87	88	88					9																	6328653		2203	4300	6503	SO:0001583	missense	89882	exon1			ACTTCTGAACTGG	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.58G>C	9.37:g.6328653G>C	ENSP00000341677:p.Glu20Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	85	15	NM_033516	0	0	0	0	0	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683352	0.29872	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.24723	1.84;1.84;1.84	4.74	-1.67	0.08238	.	0.876631	0.09954	N	0.734251	T	0.17152	0.0412	L	0.43152	1.355	0.09310	N	1	B;B;B	0.24768	0.019;0.111;0.043	B;B;B	0.24541	0.032;0.054;0.032	T	0.35226	-0.9797	10	0.18276	T	0.48	-25.866	5.4762	0.16697	0.3868:0.1365:0.4767:0.0	.	20;20;20	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	Q	20	ENSP00000341677:E20Q;ENSP00000370836:E20Q;ENSP00000318665:E20Q	ENSP00000318665:E20Q	E	+	1	0	TPD52L3	6318653	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-0.573000	0.05874	-0.424000	0.07382	0.511000	0.50034	GAA	.		0.493	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		C	6328653	G	C	6328653	3	2	59	1	0	0	0	0	1	0	0	0	16448	1291	45	3	60	3	TPD52L3	9	6328653	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10		6328653	134884778	109	12079											
VPS13A	23230	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	79933239	79933241	+	In_Frame_Del	DEL	CTA	CTA	-													cccagaagaaacggcttcttCtactgcacatttatgggaaa					rs371138709	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTA	CTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:79933239_79933241delCTA	ENST00000360280.3	+	41	5305_5307	c.5045_5047delCTA	c.(5044-5049)tctact>tct	p.T1683del	VPS13A_ENST00000376636.3_In_Frame_Del_p.T1644del|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_In_Frame_Del_p.T1683del|VPS13A_ENST00000357409.5_In_Frame_Del_p.T1683del	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1683					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						ACGGCTTCTTCTACTGCACATTT	0.335																																					p.1682_1683del		.											.	VPS13A-161	0			c.5045_5047del						.																																			SO:0001651	inframe_deletion	23230	exon41			CTTCTTCTACTGC	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.5045_5047delCTA	9.37:g.79933239_79933241delCTA	ENSP00000353422:p.Thr1683del	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	126	21	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																			.		0.335	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		-	79933241	CTA	-	79933239	7	5	59	1	0	1	0	1	0	0	0	0	17238	913	32	0	5207	0	VPS13A	9	79933239	In_Frame_Del	DEL	CTA	TCGA-P6-A5OH-01A-11D-A30A-10	73604586	79933239	61280192	110	12080											
UBQLN1	29979	broad.mit.edu;bcgsc.ca	37	chr9	86294747	86294747	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttctggatttctctgtatCaactgctgcatttgtggatt	8	7	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:86294747C>G	ENST00000376395.4	-	4	1177	c.654G>C	c.(652-654)ttG>ttC	p.L218F	UBQLN1_ENST00000257468.7_Missense_Mutation_p.L218F	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	218					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						TTCTCTGTATCAACTGCTGCA	0.363																																					p.L218F	Melanoma(186;1284 2073 12755 14558 18426)	.											.	UBQLN1-90	0			c.G654C						.						122	118	119					9																	86294747		2203	4300	6503	SO:0001583	missense	29979	exon4			CTGTATCAACTGC	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.654G>C	9.37:g.86294747C>G	ENSP00000365576:p.Leu218Phe	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	134	8	NM_053067	0	0	0	0	0	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903973	0.72754	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.33216	1.42;1.42	5.37	3.14	0.36123	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.52435	0.1734	M	0.81179	2.53	0.53005	D	0.999962	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	T	0.54846	-0.8232	10	0.72032	D	0.01	.	7.8491	0.29444	0.1408:0.7138:0.0:0.1453	.	218;218	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	F	218	ENSP00000365576:L218F;ENSP00000257468:L218F	ENSP00000257468:L218F	L	-	3	2	UBQLN1	85484567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.337000	0.52120	1.237000	0.43756	0.650000	0.86243	TTG	.		0.363	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		G	86294747	C	G	86294747	3	3	59	1	0	0	0	0	1	0	0	0	16945	825	29	3	1147	3	UBQLN1	9	86294747	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	6361508	86294747	54918684	111	12081											
RMI1	80010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	86616405	86616405	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctccaggtacaaaaattttGatttatggaaatatatcttt	5	6	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:86616405G>C	ENST00000325875.3	+	3	836	c.504G>C	c.(502-504)ttG>ttC	p.L168F		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	168					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CAAAAATTTTGATTTATGGAA	0.363																																					p.L168F		.											.	RMI1-90	0			c.G504C						.						55	57	56					9																	86616405		2203	4298	6501	SO:0001583	missense	80010	exon3			AATTTTGATTTAT	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.504G>C	9.37:g.86616405G>C	ENSP00000317039:p.Leu168Phe	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	52	7	NM_024945	0	0	0	0	0	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582684	0.46006	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.57752	0.38;0.97	5.76	2.75	0.32379	.	0.223530	0.37857	N	0.001905	T	0.70124	0.3188	M	0.89904	3.07	0.36261	D	0.854527	D	0.71674	0.998	D	0.64776	0.929	T	0.76332	-0.2998	10	0.56958	D	0.05	0.4439	6.1957	0.20548	0.0723:0.1811:0.5662:0.1804	.	168	Q9H9A7	RMI1_HUMAN	F	168	ENSP00000402433:L168F;ENSP00000317039:L168F	ENSP00000317039:L168F	L	+	3	2	RMI1	85806225	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.231000	0.32624	1.545000	0.49373	0.650000	0.86243	TTG	.		0.363	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		C	86616405	G	C	86616405	3	2	59	1	0	0	0	0	1	0	0	0	13440	1281	45	3	506	3	RMI1	9	86616405	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	321658	86616405	54597026	112	12082											
FAM120A	23196	broad.mit.edu;ucsc.edu	37	chr9	96318860	96318860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccccactcattgaccTctgtgatggtcaggtatgct	9	11	3	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:96318860T>C	ENST00000277165.6	+	13	2665	c.2471T>C	c.(2470-2472)cTc>cCc	p.L824P	FAM120A_ENST00000333936.5_Missense_Mutation_p.L852P|FAM120A_ENST00000340893.4_Missense_Mutation_p.L824P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	824						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCATTGACCTCTGTGATGGT	0.468																																					p.L824P		.											.	FAM120A-90	0			c.T2471C						.						102	107	106					9																	96318860		2203	4300	6503	SO:0001583	missense	23196	exon13			TTGACCTCTGTGA	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2471T>C	9.37:g.96318860T>C	ENSP00000277165:p.Leu824Pro	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	75	9	NM_014612	0	0	0	0	0	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505063	0.85282	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.65178	0.36;0.38;0.27;-0.14	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.75421	0.3847	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.999;0.999	T	0.77515	-0.2559	10	0.87932	D	0	-18.0598	16.3648	0.83312	0.0:0.0:0.0:1.0	.	824;852;824	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	P	824;852;824;246	ENSP00000277165:L824P;ENSP00000334918:L852P;ENSP00000344698:L824P;ENSP00000412440:L246P	ENSP00000277165:L824P	L	+	2	0	FAM120A	95358681	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.015000	0.88690	2.263000	0.75096	0.533000	0.62120	CTC	.		0.468	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		C	96318860	T	C	96318860	3	2	59	1	0	0	0	0	1	0	0	0	5434	1551	54	4	2521	4	FAM120A	9	96318860	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	9702455	96318860	44894571	113	12083											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113169657	113169657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtccaggtttacagctAtactgcacagcacttcccat	7	12	0	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:113169657A>G	ENST00000401783.2	-	38	8559	c.8223T>C	c.(8221-8223)taT>taC	p.Y2741Y	SVEP1_ENST00000297826.5_Silent_p.Y667Y|SVEP1_ENST00000374469.1_Silent_p.Y2718Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2741	Sushi 22. {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						GTTTACAGCTATACTGCACAG	0.463																																					p.Y2741Y		.											.	SVEP1-75	0			c.T8223C						.						84	87	86					9																	113169657		1983	4160	6143	SO:0001819	synonymous_variant	79987	exon38			ACAGCTATACTGC	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.8223T>C	9.37:g.113169657A>G		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	177	29	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																			.		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113169657	A	G	113169657	2	3	59	1	0	0	0	0	0	0	0	1	15467	456	16	4		4	SVEP1	9	113169657	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	16850797	113169657	28043774	114	12084											
FPGS	2356	broad.mit.edu;bcgsc.ca	37	chr9	130572350	130572350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcttcaatgctaccgggGaccgggacccggcggccctg	14	15	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:130572350G>A	ENST00000373247.2	+	13	1302	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.D368N|FPGS_ENST00000373245.1_Silent_p.G368G|FPGS_ENST00000393706.2_Missense_Mutation_p.D392N	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	418					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCTACCGGGGACCGGGACCC	0.677																																					p.D418N		.											.	FPGS-90	0			c.G1252A						.						25	27	26					9																	130572350		2202	4300	6502	SO:0001583	missense	2356	exon13			ACCGGGGACCGGG		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1252G>A	9.37:g.130572350G>A	ENSP00000362344:p.Asp418Asn	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	275	57	NM_004957	0	0	0	0	0	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078829	0.55753	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.53857	0.6;0.6;0.6	4.9	4.9	0.64082	Mur ligase, C-terminal (2);	0.226284	0.45867	D	0.000326	T	0.53110	0.1776	M	0.63843	1.955	0.80722	D	1	P;B	0.35383	0.498;0.317	B;B	0.36666	0.23;0.177	T	0.54483	-0.8287	10	0.34782	T	0.22	-18.8052	17.0455	0.86501	0.0:0.0:1.0:0.0	.	392;418	Q05932-4;Q05932	.;FOLC_HUMAN	N	418;392;368	ENSP00000362344:D418N;ENSP00000377309:D392N;ENSP00000362322:D368N	ENSP00000362322:D368N	D	+	1	0	FPGS	129612171	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	6.859000	0.75467	2.275000	0.75901	0.455000	0.32223	GAC	.		0.677	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			A	130572350	G	A	130572350	3	1	59	1	0	0	0	0	1	0	0	0	6060	1174	41	3	1302	3	FPGS	9	130572350	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	17402693	130572350	10641081	115	12085											
COL5A1	1289	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	137704528	137704528	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaggtcccccaggtggAataggaaaccctggtgcagt	12	12	0	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:137704528A>T	ENST00000371817.3	+	48	4236	c.3822A>T	c.(3820-3822)ggA>ggT	p.G1274G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1274	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)		CCCCAGGTGGAATAGGAAACC	0.627																																					p.G1274G		.											.	COL5A1-524	0			c.A3822T						.						27	25	26					9																	137704528		2200	4296	6496	SO:0001819	synonymous_variant	1289	exon48			AGGTGGAATAGGA	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.3822A>T	9.37:g.137704528A>T		Somatic	91	1		WXS	Illumina GAIIx	Phase_I	131	33	NM_000093	0	0	0	0	0	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	137704528	A	T	137704528	2	4	59	1	0	0	0	0	0	0	0	1	3703	233	9	5		5	COL5A1	9	137704528	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	7132178	137704528	3508903	116	12086											
NOXA1	10811	hgsc.bcm.edu	37	chr9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctctctgggggaCctggtgcgcgcctggcacct	15	15	1	0	rs112864733	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000479452.1_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000340951.4_5'Flank|EXD3_ENST00000342129.4_5'Flank|EXD3_ENST00000475006.1_5'Flank	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	6	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCTGGGGGACCTGGTGCGCG	0.811													c|||	278	0.0555112	0.0401	0.049	5008	,	,		6061	0.005		0.1213	False		,,,				2504	0.0654				p.D6E		.											.	NOXA1-90	0			c.C18G						.		GLU/ASP	116,3312		1,114,1599	4	5	5		18	-2.8	0.8	9	dbSNP_132	5	595,6781		18,559,3111	no	missense	NOXA1	NM_006647.1	45	19,673,4710	GG,GC,CC		8.0667,3.3839,6.5809	probably-damaging	6/484	140317999	711,10093	1714	3688	5402	SO:0001583	missense	10811	exon1			GGGGGACCTGGTG	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.18C>G	9.37:g.140317999C>G	ENSP00000342848:p.Asp6Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	4	NM_006647	0	0	0	0	0	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	143	0.06547619047619048	20	0.04065040650406504	22	0.06077348066298342	4	0.006993006993006993	97	0.1279683377308707	c	14.61	2.587081	0.46110	0.033839	0.080667	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.86627	-1.91;-2.15	4.24	-2.81	0.05805	.	0.176261	0.47455	D	0.000234	T	0.02230	0.0069	L	0.27053	0.805	0.58432	P	2.9999999999752447E-6	P;B;B	0.48230	0.907;0.24;0.201	P;B;B	0.48795	0.59;0.05;0.094	T	0.64118	-0.6482	9	0.02654	T	1	.	5.957	0.19279	0.0:0.3375:0.4365:0.2261	.	6;6;6	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	E	6	ENSP00000342848:D6E;ENSP00000376562:D6E	ENSP00000342848:D6E	D	+	3	2	NOXA1	139437820	0.486000	0.25980	0.844000	0.33320	0.587000	0.36485	-0.046000	0.11983	-0.407000	0.07576	0.387000	0.25754	GAC	C|0.934;G|0.066		0.811	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			G	140317999	C	G	140317999	3	3	59	1	0	0	0	0	1	0	0	0	10599	506	18	3	20	3	NOXA1	9	140317999	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2613471	140317999	895432	117	12087											
GPRIN2	9721	hgsc.bcm.edu	37	chr10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcagtccctgcggcGccccagctgctgcggctgct	13	16	1	0	rs72780221	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8	9	9					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	35	10	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000217	G	A	47000217	3	1	59	1	0	0	0	0	1	0	0	0	6757	1087	38	1	1339	1	GPRIN2	10	47000217	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10		47000217	88534530	118	12088											
ARHGAP22	58504	hgsc.bcm.edu	37	chr10	49659006	49659006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaggtcctgtgcgcgGgcaggccggggccgccgggc	22	12	0	1	rs80345791	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:49659006G>A	ENST00000249601.4	-	9	1462	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P222L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P230L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P280L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P405L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P395L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P299L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	389					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTGCGCGGGCAGGCCGGG	0.761													G|||	40	0.00798722	8e-04	0.0115	5008	,	,		12686	0		0.0288	False		,,,				2504	0.002				p.P405L		.											.	ARHGAP22-228	0			c.C1214T						.	G	LEU/PRO	9,4077		0,9,2034	5	6	6		1166	4.3	0.5	10	dbSNP_131	6	110,7946		2,106,3920	no	missense	ARHGAP22	NM_021226.2	98	2,115,5954	AA,AG,GG		1.3654,0.2203,0.9801	benign	389/699	49659006	119,12023	2043	4028	6071	SO:0001583	missense	58504	exon9			TGCGCGGGCAGGC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1166C>T	10.37:g.49659006G>A	ENSP00000249601:p.Pro389Leu	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	34	14	NM_001256024	0	0	0	0	0	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	29	0.013278388278388278	0	0.0	7	0.019337016574585635	0	0.0	22	0.029023746701846966	G	8.393	0.840164	0.16891	0.002203	0.013654	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.26518	2.87;2.54;1.73;2.13;2.53;2.83;2.88	5.2	4.3	0.51218	.	0.373141	0.31123	N	0.008203	T	0.10809	0.0264	M	0.72894	2.215	0.18873	N	0.999982	B;B;B;B;B;B	0.29188	0.001;0.001;0.037;0.002;0.002;0.236	B;B;B;B;B;B	0.30251	0.003;0.004;0.024;0.004;0.007;0.113	T	0.07501	-1.0769	10	0.35671	T	0.21	.	10.957	0.47364	0.0867:0.0:0.9133:0.0	.	395;389;405;389;299;222	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	L	389;280;230;222;299;395;405	ENSP00000249601:P389L;ENSP00000363287:P280L;ENSP00000363285:P230L;ENSP00000422868:P222L;ENSP00000410054:P299L;ENSP00000416701:P395L;ENSP00000412461:P405L	ENSP00000249601:P389L	P	-	2	0	ARHGAP22	49329012	0.179000	0.23135	0.481000	0.27354	0.053000	0.15095	1.605000	0.36815	1.204000	0.43247	0.313000	0.20887	CCC	G|0.987;A|0.013		0.761	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		A	49659006	G	A	49659006	3	1	59	1	0	0	0	0	1	0	0	0	872	1232	43	3	938	3	ARHGAP22	10	49659006	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	2658789	49659006	85875741	119	12089											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	55582342	55582342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatacaaataggtgtctctCtcctagagagtgaagaatgt	9	7	2	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:55582342C>A	ENST00000320301.6	-	33	5538	c.5144G>T	c.(5143-5145)aGa>aTa	p.R1715I	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1646I|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1717I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1712I|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1692I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1675I|PCDH15_ENST00000373965.2_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1715					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1722K(1)|p.R1715K(1)		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)				AGGTGTCTCTCTCCTAGAGAG	0.413										HNSCC(58;0.16)																											p.R1722I		.											.	PCDH15-193	2	Substitution - Missense(2)	skin(2)	c.G5165T						.						77	77	77					10																	55582342		2203	4299	6502	SO:0001583	missense	65217	exon35			GTCTCTCTCCTAG	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5144G>T	10.37:g.55582342C>A	ENSP00000322604:p.Arg1715Ile	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	43	11	NM_001142763	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008031	0.54361	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57907	0.4;0.37;0.42;0.38;0.38;0.37	4.99	0.552	0.17230	.	.	.	.	.	T	0.48786	0.1519	L	0.29908	0.895	0.09310	N	1	B;P;P;P;D;P;P;P	0.56968	0.029;0.731;0.731;0.731;0.978;0.731;0.859;0.731	B;P;P;P;P;P;P;P	0.56788	0.02;0.451;0.451;0.451;0.806;0.451;0.451;0.451	T	0.35301	-0.9794	9	0.87932	D	0	.	3.8892	0.09111	0.2656:0.3257:0.0:0.4087	.	1692;1715;1717;1722;1646;1675;1712;1715	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1675;1717;1692;1715;1712;1722;1646	ENSP00000378820:R1675I;ENSP00000354950:R1717I;ENSP00000378821:R1692I;ENSP00000322604:R1715I;ENSP00000378818:R1712I;ENSP00000412628:R1646I	ENSP00000322604:R1715I	R	-	2	0	PCDH15	55252348	0.917000	0.31117	0.006000	0.13384	0.031000	0.12232	0.371000	0.20450	0.165000	0.19558	0.655000	0.94253	AGA	.		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55582342	C	A	55582342	3	1	59	1	0	0	0	0	1	0	0	0	11550	913	32	3	2333	3	PCDH15	10	55582342	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	5923336	55582342	79952405	120	12090											
SPOCK2	9806	hgsc.bcm.edu	37	chr10	73848075	73848075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagccgcccgcagccCggggcgcgcatcgtggtctg	15	17	1	0	rs2306324	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:73848075C>T	ENST00000373109.2	-	1	456	c.12G>A	c.(10-12)ccG>ccA	p.P4P	SPOCK2_ENST00000412663.1_Silent_p.P4P|SPOCK2_ENST00000536168.1_Silent_p.P4P|SPOCK2_ENST00000317376.4_Silent_p.P4P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	4					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCCGCAGCCCGGGGCGCGCA	0.697													C|||	722	0.144169	0.2201	0.1585	5008	,	,		11692	0.1438		0.0437	False		,,,				2504	0.135				p.P4P		.											.	SPOCK2-90	0			c.G12A						.	C	,	759,3439		58,643,1398	6	8	7		12,12	0.9	0.9	10	dbSNP_100	7	414,7646		9,396,3625	yes	coding-synonymous,coding-synonymous	SPOCK2	NM_001134434.1,NM_014767.2	,	67,1039,5023	TT,TC,CC		5.1365,18.08,9.5693	,	4/78,4/425	73848075	1173,11085	2099	4030	6129	SO:0001819	synonymous_variant	9806	exon2			GCAGCCCGGGGCG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.12G>A	10.37:g.73848075C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	5	NM_001134434	0	0	0	0	0	C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	CCDS7313.1																																																																																			C|0.870;T|0.130		0.697	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			T	73848075	C	T	73848075	2	4	59	1	0	0	0	0	0	0	0	1	15127	639	23	1		1	SPOCK2	10	73848075	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	18265733	73848075	61686672	121	12091											
OIT3	170392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	74684374	74684374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccaagatcgacgagGtcctgaaatactacctcatc	6	15	1	2	rs139078371		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:74684374G>A	ENST00000334011.5	+	7	1557	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	447	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GATCGACGAGGTCCTGAAATA	0.552																																					p.V447I	Colon(7;19 345 13446 17537)	.											.	OIT3-70	0			c.G1339A						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60	52	55		1339	3.3	1	10	dbSNP_134	55	0,8600		0,0,4300	no	missense	OIT3	NM_152635.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	447/546	74684374	1,13005	2203	4300	6503	SO:0001583	missense	170392	exon7			GACGAGGTCCTGA		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1339G>A	10.37:g.74684374G>A	ENSP00000333900:p.Val447Ile	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	214	40	NM_152635	0	0	0	0	0	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098935	0.20552	2.27E-4	0.0	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.59	3.29	0.37713	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.100063	0.41938	N	0.000794	T	0.49729	0.1574	N	0.00347	-1.61	0.23293	N	0.997965	B	0.02656	0.0	B	0.04013	0.001	T	0.48375	-0.9041	10	0.23302	T	0.38	-18.3649	8.4443	0.32833	0.7726:0.0:0.2274:0.0	.	447	Q8WWZ8	OIT3_HUMAN	I	447	ENSP00000333900:V447I	ENSP00000333900:V447I	V	+	1	0	OIT3	74354380	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.199000	0.51043	0.422000	0.26005	-0.471000	0.05019	GTC	G|1.000;A|0.000		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		A	74684374	G	A	74684374	3	1	59	1	0	0	0	0	1	0	0	0	10888	1261	44	3	1365	3	OIT3	10	74684374	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	836299	74684374	60850373	122	12092											
C10orf11	83938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	77542776	77542776	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaatcattcttcaaatAaaaggttagccagacaggac	9	9	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:77542776A>T	ENST00000372499.1	+	1	258	c.43A>T	c.(43-45)Aaa>Taa	p.K15*	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	15					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTCTTCAAATAAAAGGTTAGC	0.413																																					p.K15X		.											.	C10orf11-90	0			c.A43T						.						84	77	80					10																	77542776		2203	4300	6503	SO:0001587	stop_gained	83938	exon1			TCAAATAAAAGGT	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.43A>T	10.37:g.77542776A>T	ENSP00000361577:p.Lys15*	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	110	17	NM_032024	0	0	0	0	0	B1AVW6	Nonsense_Mutation	SNP	ENST00000372499.1	37	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	A	40	8.003587	0.98605	.	.	ENSG00000148655	ENST00000372499	.	.	.	5.69	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.0166	0.42018	0.9162:0.0:0.0838:0.0	.	.	.	.	X	15	.	ENSP00000361577:K15X	K	+	1	0	C10orf11	77212782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.618000	0.54188	0.985000	0.38656	0.533000	0.62120	AAA	.		0.413	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		T	77542776	A	T	77542776	4	4	59	1	0	0	0	0	0	1	0	0	1587	363	13	5	45	5	C10orf11	10	77542776	Nonsense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	2858402	77542776	57991971	123	12093											
TBC1D12	23232	hgsc.bcm.edu	37	chr10	96163039	96163039	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgactcgggggacagcccCgccagcagctgcagcagtag	15	14	0	0	rs2477534	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2	3	3		669	-2	0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	33	17	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96163039	C	G	96163039	2	3	59	1	0	0	0	0	0	0	0	1	15648	639	23	2		2	TBC1D12	10	96163039	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	18620263	96163039	39371708	124	12094											
LZTS2	84445	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	102766836	102766836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcagcagctcagcctgGagctggaggcccgggagctc	16	13	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:102766836G>A	ENST00000370220.1	+	4	4984	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	LZTS2_ENST00000370223.3_Missense_Mutation_p.E641K					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCTCAGCCTGGAGCTGGAGGC	0.642																																					p.E641K	Esophageal Squamous(8;38 437 13604 19902 37640)	.											.	LZTS2-155	0			c.G1921A						.						23	18	20					10																	102766836		2187	4258	6445	SO:0001583	missense	84445	exon5			AGCCTGGAGCTGG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1921G>A	10.37:g.102766836G>A	ENSP00000359240:p.Glu641Lys	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	247	44	NM_032429	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017145	0.93404	.	.	ENSG00000107816	ENST00000370223;ENST00000370220	T;T	0.37915	1.17;1.17	4.72	4.72	0.59763	.	0.114043	0.56097	D	0.000022	T	0.35219	0.0924	N	0.08118	0	0.58432	D	0.999999	D	0.61080	0.989	P	0.60473	0.875	T	0.30995	-0.9959	10	0.38643	T	0.18	-25.4741	14.4763	0.67548	0.0:0.1479:0.8521:0.0	.	641	Q9BRK4	LZTS2_HUMAN	K	641	ENSP00000359243:E641K;ENSP00000359240:E641K	ENSP00000359240:E641K	E	+	1	0	LZTS2	102756826	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.030000	0.70903	2.321000	0.78463	0.462000	0.41574	GAG	.		0.642	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		A	102766836	G	A	102766836	3	1	59	1	0	0	0	0	1	0	0	0	9175	1175	41	3	1935	3	LZTS2	10	102766836	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6603797	102766836	32767911	125	12095											
NFKB2	4791	hgsc.bcm.edu	37	chr10	104159196	104159196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaagccgcggagccAagcgccccctccaggacccc	15	17	0	0	rs4919633	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					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)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1		0.999	False		,,,				2504	1				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3	5	4		1269,1269,1269	-4.9	0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	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.1269A>G	10.37:g.104159196A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	16	NM_001077494	0	0	0	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			G	104159196	A	G	104159196	2	3	59	1	0	0	0	0	0	0	0	1	10415	117	5	4		4	NFKB2	10	104159196	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	1392360	104159196	31375551	126	12096											
CDHR5	53841	broad.mit.edu;bcgsc.ca	37	chr11	624261	624263	+	Splice_Site	DEL	CTC	CTC	-													tgagcctcaagcagtgacttCtcctgtggatgtagacaggt							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:624261_624263delCTC	ENST00000358353.3	-	4	584_586	c.262_264delGAG	c.(262-264)gagdel	p.E88del	CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000349570.7_Splice_Site_p.E88del|CDHR5_ENST00000397542.2_Splice_Site_p.E88del			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						gcagtgacttctcctgtggatgt	0.665																																					p.88_88del		.											.	CDHR5-90	0			c.262_264del						.																																			SO:0001630	splice_region_variant	53841	exon3			TGACTTCTCCTGT	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.262-1GAG>-	11.37:g.624261_624263delCTC		Somatic	121	0		WXS	Illumina GAIIx	Phase_I	340	38	NM_031264	0	0	0	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																			.		0.665	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	In_Frame_Del	-	624263	CTC	-	624261	8	5	59	1	0	1	0	1	0	0	1	0	3129	912	32	0	2325	0	CDHR5	11	624261	Splice_Site	DEL	CTC	TCGA-P6-A5OH-01A-11D-A30A-10		624261	134382255	127	12097											
MUC2	4583	broad.mit.edu	37	chr11	1092947	1092947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1	rs111219026		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:1092947C>A	ENST00000441003.2	+	30	4793	c.4766C>A	c.(4765-4767)aCc>aAc	p.T1589N	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1590N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1589N(2)|p.T1590N(2)|p.T1590I(2)|p.T1589I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.627																																					p.T1589N		.											.	MUC2-90	8	Substitution - Missense(8)	endometrium(8)	c.C4766A						.						58	93	81					11																	1092947		1850	3386	5236	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.4766C>A	11.37:g.1092947C>A	ENSP00000415183:p.Thr1589Asn	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	186	5	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	6.043	0.376346	0.11466	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14516	2.5;2.84	1.75	1.75	0.24633	.	1.843980	0.03632	U	0.238018	T	0.07863	0.0197	.	.	.	0.09310	N	1	P	0.45986	0.87	B	0.31101	0.124	T	0.33189	-0.9878	9	0.27082	T	0.32	.	8.7142	0.34401	0.0:1.0:0.0:0.0	.	1589	E7EUV1	.	N	1589;1590	ENSP00000415183:T1589N;ENSP00000351956:T1590N	ENSP00000351956:T1590N	T	+	2	0	MUC2	1082947	0.034000	0.19679	0.006000	0.13384	0.170000	0.22686	1.835000	0.39181	1.016000	0.39470	0.121000	0.15741	ACC	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092947	C	A	1092947	3	1	59	1	0	0	0	0	1	0	0	0	10013	507	18	3	4884	3	MUC2	11	1092947	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	468686	1092947	133913569	128	12098											
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5510738	5510738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcacccaccgctttGgtcaccacgaagtccccaag	6	19	2	0	rs542670667		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:5510738G>C	ENST00000322641.5	+	1	824	c.802G>C	c.(802-804)Ggt>Cgt	p.G268R	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCGCTTTGGTCACCACGA	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		21824	0		0	False		,,,				2504	0				p.G268R		.											.	OR52D1-68	0			c.G802C						.						153	136	142					11																	5510738		2201	4297	6498	SO:0001583	missense	390066	exon1			CGCTTTGGTCACC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.802G>C	11.37:g.5510738G>C	ENSP00000326232:p.Gly268Arg	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	123	27	NM_001005163	0	0	0	0	0	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851027	0.71719	.	.	ENSG00000181609	ENST00000322641	T	0.37752	1.18	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.67841	0.2936	M	0.88377	2.95	0.39511	D	0.968367	D	0.89917	1.0	D	0.97110	1.0	T	0.73780	-0.3875	10	0.72032	D	0.01	.	18.3106	0.90199	0.0:0.0:1.0:0.0	.	268	Q9H346	O52D1_HUMAN	R	268	ENSP00000326232:G268R	ENSP00000326232:G268R	G	+	1	0	OR52D1	5467314	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	2.168000	0.42424	2.906000	0.99361	0.655000	0.94253	GGT	.		0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		C	5510738	G	C	5510738	3	2	59	1	0	0	0	0	1	0	0	0	11153	1348	47	3	804	3	OR52D1	11	5510738	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	4417791	5510738	129495778	129	12099											
DNHD1	144132	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6579406	6579406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcgcctcctggccctgGcaacctcaggcagtttccct	8	17	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:6579406G>A	ENST00000527990.2	+	23	8881	c.8881G>A	c.(8881-8883)Gca>Aca	p.A2961T	DNHD1_ENST00000254579.6_Missense_Mutation_p.A2961T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2961					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGGCCCTGGCAACCTCAGG	0.552																																					p.A2961T		.											.	DNHD1-24	0			c.G8881A						.						70	59	63					11																	6579406		692	1591	2283	SO:0001583	missense	144132	exon25			GCCCTGGCAACCT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8881G>A	11.37:g.6579406G>A	ENSP00000436180:p.Ala2961Thr	Somatic	144	1		WXS	Illumina GAIIx	Phase_I	242	45	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848009	0.32699	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210;ENST00000524401	T;T	0.26373	1.74;1.74	5.19	5.19	0.71726	.	.	.	.	.	T	0.26521	0.0648	N	0.14661	0.345	0.28056	N	0.933172	D;D	0.60160	0.987;0.979	P;P	0.56865	0.808;0.801	T	0.06092	-1.0846	9	0.41790	T	0.15	.	10.174	0.42927	0.0917:0.0:0.9083:0.0	.	2961;708	Q96M86;E9PHZ7	DNHD1_HUMAN;.	T	2961;2961;708;26	ENSP00000254579:A2961T;ENSP00000436180:A2961T	ENSP00000254579:A2961T	A	+	1	0	DNHD1	6535982	0.984000	0.35163	1.000000	0.80357	0.954000	0.61252	2.609000	0.46317	2.569000	0.86673	0.650000	0.86243	GCA	.		0.552	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6579406	G	A	6579406	3	1	59	1	0	0	0	0	1	0	0	0	4682	1203	42	3	8980	3	DNHD1	11	6579406	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1068668	6579406	128427110	130	12100											
FANCF	2188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	22646416	22646416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggaggggcctgacagAggctttgaaacctattgtgc	16	7	0	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:22646416A>G	ENST00000327470.3	-	1	971	c.941T>C	c.(940-942)cTc>cCc	p.L314P	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	314					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGCCTGACAGAGGCTTTGAAA	0.498			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L314P		.	yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	.	FANCF-1083	0			c.T941C						.						95	101	99					11																	22646416		2203	4300	6503	SO:0001583	missense	2188	exon1	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGACAGAGGCTTT		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.941T>C	11.37:g.22646416A>G	ENSP00000330875:p.Leu314Pro	Somatic	93	0	757	WXS	Illumina GAIIx	Phase_I	96	10	NM_022725	0	0	0	0	0	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364059	0.82353	.	.	ENSG00000183161	ENST00000327470	T	0.50001	0.76	5.51	5.51	0.81932	.	0.000000	0.64402	U	0.000014	T	0.65933	0.2739	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68868	-0.5295	10	0.87932	D	0	-13.9608	14.3548	0.66730	1.0:0.0:0.0:0.0	.	314	Q9NPI8	FANCF_HUMAN	P	314	ENSP00000330875:L314P	ENSP00000330875:L314P	L	-	2	0	FANCF	22602992	0.999000	0.42202	0.995000	0.50966	0.979000	0.70002	5.406000	0.66357	2.317000	0.78254	0.459000	0.35465	CTC	.		0.498	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		G	22646416	A	G	22646416	3	3	59	1	0	0	0	0	1	0	0	0	5689	304	11	4	187	4	FANCF	11	22646416	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	16067010	22646416	112360100	131	12101											
PRDM11	56981	broad.mit.edu	37	chr11	45204461	45204461	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatgcccaaaccatggCcccccggtgtttgtgtctga	11	12	1	2	rs374034058		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:45204461C>A	ENST00000530656.1	+	4	375	c.375C>A	c.(373-375)ggC>ggA	p.G125G	PRDM11_ENST00000424263.2_Silent_p.G91G|PRDM11_ENST00000263765.4_Silent_p.G125G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	125							methyltransferase activity (GO:0008168)	p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAAACCATGGCCCCCCGGTGT	0.607																																					p.G91G	NSCLC(118;1511 1736 6472 36603 43224)	.											.	PRDM11-91	1	Substitution - coding silent(1)	endometrium(1)	c.C273A						.						71	73	72					11																	45204461		2203	4299	6502	SO:0001819	synonymous_variant	56981	exon4			CCATGGCCCCCCG	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.375C>A	11.37:g.45204461C>A		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	113	5	NM_001256695	0	0	0	0	0	Q8N9F1	Silent	SNP	ENST00000530656.1	37																																																																																				.		0.607	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		A	45204461	C	A	45204461	2	1	59	1	0	0	0	0	0	0	0	1	12494	726	26	3		3	PRDM11	11	45204461	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	22558045	45204461	89802055	132	12102											
DGKZ	8525	hgsc.bcm.edu	37	chr11	46387868	46387868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccctggagaggggcagcAgcggcccagcagcgtggggc	20	12	0	1	rs1317826	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:46387868A>G	ENST00000454345.1	+	2	187	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	21			Q -> R (in dbSNP:rs1317826). {ECO:0000269|PubMed:9159104}.		blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGGGGCAGCAGCGGCCCAGC	0.701													G|||	2181	0.435503	0.9107	0.2493	5008	,	,		13838	0.1458		0.3111	False		,,,				2504	0.3517				p.Q21R		.											.	DGKZ-676	0			c.A62G						.	G	ARG/GLN,,,,,,	2682,930		1027,628,151	8	9	9		62,,,,,,	4.5	1	11	dbSNP_88	9	2229,5713		386,1457,2128	yes	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	43,,,,,,	1413,2085,2279	GG,GA,AA		28.066,25.7475,42.5048	benign,,,,,,	21/1118,,,,,,	46387868	4911,6643	1806	3971	5777	SO:0001583	missense	8525	exon2			GGCAGCAGCGGCC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.62A>G	11.37:g.46387868A>G	ENSP00000412178:p.Gln21Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	872	0.3992673992673993	446	0.9065040650406504	95	0.26243093922651933	97	0.16958041958041958	234	0.3087071240105541	G	2.360	-0.346808	0.05208	0.742525	0.28066	ENSG00000149091	ENST00000454345	T	0.64260	-0.09	4.53	4.53	0.55603	.	0.291635	0.22594	N	0.058046	T	0.00012	0.0000	N	0.02916	-0.46	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	9	0.02654	T	1	.	13.0604	0.59003	0.0784:0.0:0.9216:0.0	rs1317826	21	Q13574	DGKZ_HUMAN	R	21	ENSP00000412178:Q21R	ENSP00000412178:Q21R	Q	+	2	0	DGKZ	46344444	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	3.832000	0.55783	1.049000	0.40321	-0.213000	0.12676	CAG	A|0.608;G|0.392		0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		G	46387868	A	G	46387868	3	3	59	1	0	0	0	0	1	0	0	0	4488	188	7	4	508	4	DGKZ	11	46387868	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	1183407	46387868	88618648	133	12103											
DGKZ	8525	hgsc.bcm.edu	37	chr11	46387906	46387906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcccacaggcaaggccCggcgtcgctcccccgctggg	15	18	0	0	rs376052908	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:46387906C>T	ENST00000454345.1	+	2	225	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	34					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGCAAGGCCCGGCGTCGCTC	0.711													C|||	7	0.00139776	0	0	5008	,	,		12225	0		0	False		,,,				2504	0.0072				p.R34W		.											.	DGKZ-676	0			c.C100T						.	C	TRP/ARG,,,,,,	0,3652		0,0,1826	5	6	6		100,,,,,,	3.6	1	11		6	2,7962		0,2,3980	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	101,,,,,,	0,2,5806	TT,TC,CC		0.0251,0.0,0.0172	probably-damaging,,,,,,	34/1118,,,,,,	46387906	2,11614	1826	3982	5808	SO:0001583	missense	8525	exon2			AAGGCCCGGCGTC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.100C>T	11.37:g.46387906C>T	ENSP00000412178:p.Arg34Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747226	0.49257	0.0	2.51E-4	ENSG00000149091	ENST00000454345	T	0.79749	-1.3	4.53	3.59	0.41128	.	1.558090	0.04229	N	0.334954	T	0.81475	0.4830	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.69643	-0.5090	10	0.87932	D	0	.	13.1739	0.59615	0.3773:0.6227:0.0:0.0	.	34	Q13574	DGKZ_HUMAN	W	34	ENSP00000412178:R34W	ENSP00000412178:R34W	R	+	1	2	DGKZ	46344482	0.977000	0.34250	0.996000	0.52242	0.444000	0.32077	1.008000	0.29872	0.989000	0.38761	0.563000	0.77884	CGG	.		0.711	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		T	46387906	C	T	46387906	3	4	59	1	0	0	0	0	1	0	0	0	4488	643	23	1	546	1	DGKZ	11	46387906	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	38	46387906	88618610	134	12104											
DDB2	1643	broad.mit.edu	37	chr11	47256376	47256376	+	Frame_Shift_Del	DEL	C	C	-													aacccatgctgtgattggttCctggccacagcctccgtaga							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:47256376delC	ENST00000256996.4	+	6	966	c.771delC	c.(769-771)ttcfs	p.F257fs	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Frame_Shift_Del_p.F193fs	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	257					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						GTGATTGGTTCCTGGCCACAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.F257fs		.	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	DDB2-971	0			c.771delC						.						53	51	51					11																	47256376		2201	4298	6499	SO:0001589	frameshift_variant	1643	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TTGGTTCCTGGCC		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.771delC	11.37:g.47256376delC	ENSP00000256996:p.Phe257fs	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	232	21	NM_000107	0	0	0	0	0	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Frame_Shift_Del	DEL	ENST00000256996.4	37	CCDS7927.1																																																																																			.		0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		-	47256376	C	-	47256376	7	5	59	1	0	1	0	1	0	0	0	0	4333	854	30	0	793	0	DDB2	11	47256376	Frame_Shift_Del	DEL	C	TCGA-P6-A5OH-01A-11D-A30A-10	868470	47256376	87750140	135	12105											
OR5M1	390168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	56380625	56380625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacatagcgatccaatgcCattgaagcaaggatgtaaaa	9	8	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:56380625C>T	ENST00000526538.1	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GATCCAATGCCATTGAAGCAA	0.468																																					p.M118I		.											.	OR5M1-94	0			c.G354A						.						165	149	154					11																	56380625		1995	4174	6169	SO:0001583	missense	390168	exon1			CAATGCCATTGAA	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.354G>A	11.37:g.56380625C>T	ENSP00000435416:p.Met118Ile	Somatic	350	0		WXS	Illumina GAIIx	Phase_I	362	74	NM_001004740	0	0	0	0	0	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855826	0.71834	.	.	ENSG00000255012	ENST00000526538	T	0.01126	5.3	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.06325	0.0163	H	0.95402	3.665	0.38861	D	0.956479	P	0.50943	0.94	P	0.48454	0.578	T	0.11397	-1.0589	10	0.87932	D	0	-98.617	14.3562	0.66740	0.0:1.0:0.0:0.0	.	118	Q8NGP8	OR5M1_HUMAN	I	118	ENSP00000435416:M118I	ENSP00000435416:M118I	M	-	3	0	OR5M1	56137201	1.000000	0.71417	0.933000	0.37362	0.942000	0.58702	5.477000	0.66799	1.949000	0.56562	0.280000	0.19369	ATG	.		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		T	56380625	C	T	56380625	3	4	59	1	0	0	0	0	1	0	0	0	11211	594	21	3	597	3	OR5M1	11	56380625	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	9124249	56380625	78625891	136	12106											
OR10Q1	219960	broad.mit.edu;bcgsc.ca	37	chr11	57995729	57995729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcacgaggatgctcaCgacatagaggacagcctggt	14	10	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:57995729C>T	ENST00000316770.2	-	1	661	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGATGCTCACGACATAGAGG	0.627																																					p.V207M		.											.	OR10Q1-70	0			c.G619A						.						79	67	71					11																	57995729		2201	4295	6496	SO:0001583	missense	219960	exon1			TGCTCACGACATA	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.619G>A	11.37:g.57995729C>T	ENSP00000314324:p.Val207Met	Somatic	276	0		WXS	Illumina GAIIx	Phase_I	277	12	NM_001004471	0	0	0	0	0	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	9.269	1.045112	0.19748	.	.	ENSG00000180475	ENST00000316770	T	0.00211	8.54	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.192597	0.25194	N	0.032434	T	0.00241	0.0007	L	0.45470	1.425	0.25967	N	0.982545	P	0.49447	0.924	B	0.43990	0.438	T	0.63251	-0.6679	10	0.52906	T	0.07	.	14.9035	0.70699	0.0:1.0:0.0:0.0	.	207	Q8NGQ4	O10Q1_HUMAN	M	207	ENSP00000314324:V207M	ENSP00000314324:V207M	V	-	1	0	OR10Q1	57752305	0.000000	0.05858	0.941000	0.38009	0.020000	0.10135	0.162000	0.16501	2.368000	0.80403	0.580000	0.79431	GTG	.		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57995729	C	T	57995729	3	4	59	1	0	0	0	0	1	0	0	0	10955	536	19	1	344	1	OR10Q1	11	57995729	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1615104	57995729	77010787	137	12107											
C11orf66	220004	bcgsc.ca	37	chr11	61249383	61249383	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgccaccagctactgcacCgcctacggtgagggtgcctt	11	15	0	1	rs3019200	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61249383C>A	ENST00000338608.2	+	2	227	c.102C>A	c.(100-102)acC>acA	p.T34T	RP11-286N22.8_ENST00000544880.1_Intron|RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Silent_p.T34T	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	34							phosphatase binding (GO:0019902)										GCTACTGCACCGCCTACGGTG	0.617													A|||	3884	0.775559	0.5008	0.8458	5008	,	,		19122	0.9732		0.826	False		,,,				2504	0.8415				p.T34T		.											.	.	0			c.C102A						.	A	,	2354,2050	558.9+/-380.1	639,1076,487	35	34	34		102,102	-0.7	0.8	11	dbSNP_101	34	7027,1571	286.2+/-297.6	2878,1271,150	no	coding-synonymous,coding-synonymous	C11orf66	NM_001170753.1,NM_145017.2	,	3517,2347,637	AA,AC,CC		18.2717,46.5486,27.8496	,	34/406,34/426	61249383	9381,3621	2202	4299	6501	SO:0001819	synonymous_variant	220004	exon2			CTGCACCGCCTAC	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.102C>A	11.37:g.61249383C>A		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	61	5	NM_001170753	0	0	0	0	0	Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	CCDS8008.1																																																																																			C|0.251;A|0.749		0.617	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		A	61249383	C	A	61249383	2	1	59	1	0	0	0	0	0	0	0	1	1661	639	23	2		2	C11orf66	11	61249383	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	3253654	61249383	73757133	138	12108											
SYT7	9066	broad.mit.edu;bcgsc.ca	37	chr11	61291923	61291923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggatggacacctccccaAtggggtcgttgcggctgaag	17	10	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61291923A>G	ENST00000263846.4	-	6	1031	c.704T>C	c.(703-705)aTt>aCt	p.I235T	SYT7_ENST00000535826.1_Missense_Mutation_p.I354T|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000539008.1_Missense_Mutation_p.I518T|SYT7_ENST00000542670.1_Missense_Mutation_p.I443T|SYT7_ENST00000540677.1_Missense_Mutation_p.I310T|SYT7_ENST00000542836.1_Missense_Mutation_p.I279T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	235	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCTCCCCAATGGGGTCGTT	0.557																																					p.I310T		.											.	SYT7-94	0			c.T929C						.						87	81	83					11																	61291923		2202	4299	6501	SO:0001583	missense	9066	exon7			TCCCCAATGGGGT	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.704T>C	11.37:g.61291923A>G	ENSP00000263846:p.Ile235Thr	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	272	11	NM_001252065	0	0	0	0	0	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109635	0.77096	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	M	0.89214	3.015	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.87932	D	0	.	14.4328	0.67261	1.0:0.0:0.0:0.0	.	310;235	F5GZU9;O43581	.;SYT7_HUMAN	T	235;310;518;279;443;354	ENSP00000263846:I235T;ENSP00000444201:I310T;ENSP00000439694:I518T;ENSP00000444568:I279T;ENSP00000444019:I443T;ENSP00000437720:I354T	ENSP00000263846:I235T	I	-	2	0	SYT7	61048499	1.000000	0.71417	0.954000	0.39281	0.968000	0.65278	9.229000	0.95273	1.855000	0.53841	0.379000	0.24179	ATT	.		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		G	61291923	A	G	61291923	3	3	59	1	0	0	0	0	1	0	0	0	15526	101	4	4	523	4	SYT7	11	61291923	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	42540	61291923	73714593	139	12109											
INCENP	3619	hgsc.bcm.edu	37	chr11	61914282	61914282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagcaggagcggcgcgaGcaggagcggcgggagcagga	22	10	0	0	rs113981632	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:61914282G>A	ENST00000394818.3	+	15	2314	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	INCENP_ENST00000278849.4_Silent_p.E700E	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	704					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						agcggcgcgagcaggagcggc	0.751													G|||	148	0.0295527	0.0439	0.0303	5008	,	,		10530	0.002		0.0507	False		,,,				2504	0.0164				p.E704E		.											.	INCENP-227	0			c.G2112A						.	G	,	138,3434		2,134,1650	3	5	4		2112,2100	0.2	0	11	dbSNP_132	4	293,6883		6,281,3301	no	coding-synonymous,coding-synonymous	INCENP	NM_001040694.1,NM_020238.2	,	8,415,4951	AA,AG,GG		4.0831,3.8634,4.01	,	704/919,700/915	61914282	431,10317	1786	3588	5374	SO:0001819	synonymous_variant	3619	exon15			GCGCGAGCAGGAG	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2112G>A	11.37:g.61914282G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001040694	0	0	0	0	0	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																			A|0.035;G|0.965		0.751	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61914282	G	A	61914282	2	1	59	1	0	0	0	0	0	0	0	1	7760	962	34	3		3	INCENP	11	61914282	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	622359	61914282	73092234	140	12110											
TM7SF2	7108	hgsc.bcm.edu	37	chr11	64880090	64880090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtccacccgcgtccctgccGgggctggaggtgctgtggag	18	13	0	0	rs4930284	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1		0.999	False		,,,				2504	1				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2	2	2		156	-9.8	0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64880090	G	C	64880090	2	2	59	1	0	0	0	0	0	0	0	1	16021	1103	39	2		2	TM7SF2	11	64880090	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	2965808	64880090	70126426	141	12111											
PCNXL3	399909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65386303	65386303	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cggccatatgggacccagcgGacgcctagtaccgccagcgc	13	16	0	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:65386303G>C	ENST00000355703.3	+	6	2009	c.1470G>C	c.(1468-1470)cgG>cgC	p.R490R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	490						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGACCCAGCGGACGCCTAGTA	0.687																																					p.R490R		.											.	PCNXL3-46	0			c.G1470C						.						23	26	25					11																	65386303		1925	4123	6048	SO:0001819	synonymous_variant	399909	exon6			CCAGCGGACGCCT	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.1470G>C	11.37:g.65386303G>C		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	34	12	NM_032223	0	0	0	0	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			.		0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		C	65386303	G	C	65386303	2	2	59	1	0	0	0	0	0	0	0	1	11632	1161	41	3		3	PCNXL3	11	65386303	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	506213	65386303	69620213	142	12112											
SPTBN2	6712	broad.mit.edu	37	chr11	66461607	66461608	+	Splice_Site	DEL	CA	CA	-													cgtccttggccccagtgactCacaatctcatcttccacatc							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:66461607_66461608delCA	ENST00000533211.1	-	22	4835		c.e22+1		SPTBN2_ENST00000309996.2_Splice_Site|SPTBN2_ENST00000529997.1_Splice_Site			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2						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						CCCAGTGACTCACAATCTCATC	0.629																																					.		.											.	SPTBN2-155	0			.						.																																			SO:0001630	splice_region_variant	6712	.			GTGACTCACAATC	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.4503+1TG>-	11.37:g.66461609_66461610delCA		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	18	8	.	0	0	0	0	0	O14872|O14873	Splice_Site	DEL	ENST00000533211.1	37	CCDS8150.1																																																																																			.		0.629	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	Intron	-	66461608	CA	-	66461607	8	5	59	1	0	1	0	1	0	0	1	0	15167	841	29	0		0	SPTBN2	11	66461607	Splice_Site	DEL	CA	TCGA-P6-A5OH-01A-11D-A30A-10	1075304	66461607	68544909	143	12113											
LRRC32	2615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	76370747	76370747	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accagtatgaaggtgaggatGatgatgaggttgatgttctt	14	3	1	6			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:76370747G>T	ENST00000407242.2	-	3	2132	c.1890C>A	c.(1888-1890)atC>atA	p.I630I	LRRC32_ENST00000404995.1_Silent_p.I630I|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.I630I|LRRC32_ENST00000464145.1_Intron|RP11-672A2.4_ENST00000531511.1_lincRNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	630					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTGAGGATGATGATGAGGT	0.567																																					p.I630I		.											.	LRRC32-90	0			c.C1890A						.						158	147	151					11																	76370747		2200	4292	6492	SO:0001819	synonymous_variant	2615	exon3			GAGGATGATGATG	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1890C>A	11.37:g.76370747G>T		Somatic	95	0		WXS	Illumina GAIIx	Phase_I	108	16	NM_005512	0	0	0	0	0	Q86V06	Silent	SNP	ENST00000407242.2	37	CCDS8245.1																																																																																			.		0.567	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		T	76370747	G	T	76370747	2	4	59	1	0	0	0	0	0	0	0	1	9022	1280	45	3		3	LRRC32	11	76370747	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	9909140	76370747	58635769	144	12114											
ODZ4	26011	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	78369696	78369696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcggccatccttcaaggCaaacttgacccccttgccaa	6	17	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:78369696C>A	ENST00000278550.7	-	34	8179	c.7717G>T	c.(7717-7719)Gcc>Tcc	p.A2573S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2573					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)										TCCTTCAAGGCAAACTTGACC	0.542																																					p.A2573S		.											.	.	0			c.G7717T						.						45	47	46					11																	78369696		2054	4196	6250	SO:0001583	missense	26011	exon34			TCAAGGCAAACTT	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.7717G>T	11.37:g.78369696C>A	ENSP00000278550:p.Ala2573Ser	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	114	11	NM_001098816	0	0	0	0	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656471	0.67586	.	.	ENSG00000149256	ENST00000278550	D	0.88277	-2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92609	0.7652	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90787	0.4683	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2573	Q6N022	TEN4_HUMAN	S	2573	ENSP00000278550:A2573S	.	A	-	1	0	ODZ4	78047344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.875000	0.69660	2.941000	0.99782	0.655000	0.94253	GCC	.		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78369696	C	A	78369696	3	1	59	1	0	0	0	0	1	0	0	0	10876	710	25	3	596	3	ODZ4	11	78369696	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1998949	78369696	56636820	145	12115											
TMEM135	65084	broad.mit.edu	37	chr11	86749164	86749164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacccttcctgccgggtctCcttcctgcagatcaccgggg	11	17	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:86749164C>T	ENST00000305494.5	+	1	116	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000340353.7_Missense_Mutation_p.S26F|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.S26F	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	26					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCCGGGTCTCCTTCCTGCAG	0.612																																					p.S26F		.											.	TMEM135-514	0			c.C77T						.						75	71	72					11																	86749164		2201	4299	6500	SO:0001583	missense	65084	exon1			GGGTCTCCTTCCT	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.77C>T	11.37:g.86749164C>T	ENSP00000306344:p.Ser26Phe	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	98	5	NM_022918	0	0	0	0	0	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918116	0.92249	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.51071	0.87;0.72;0.85	5.13	4.21	0.49690	.	0.192224	0.46442	D	0.000291	T	0.54208	0.1844	L	0.50333	1.59	0.80722	D	1	P;P;D	0.61080	0.874;0.937;0.989	P;P;P	0.54312	0.568;0.735;0.748	T	0.53961	-0.8364	9	.	.	.	-10.0636	14.4255	0.67212	0.0:0.8515:0.1485:0.0	.	26;26;26	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	F	26	ENSP00000345513:S26F;ENSP00000433927:S26F;ENSP00000306344:S26F	.	S	+	2	0	TMEM135	86426812	0.991000	0.36638	0.999000	0.59377	0.994000	0.84299	5.107000	0.64603	1.367000	0.46095	0.563000	0.77884	TCC	.		0.612	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		T	86749164	C	T	86749164	3	4	59	1	0	0	0	0	1	0	0	0	16098	855	30	3	79	3	TMEM135	11	86749164	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	8379468	86749164	48257352	146	12116											
FAT3	120114	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	92624186	92624186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctttgacgattccgaAgtagccatgagtgactacga	12	9	0	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:92624186A>T	ENST00000298047.6	+	27	13694	c.13677A>T	c.(13675-13677)gaA>gaT	p.E4559D	FAT3_ENST00000533797.1_Missense_Mutation_p.E862D|FAT3_ENST00000409404.2_Missense_Mutation_p.E4527D|FAT3_ENST00000525166.1_Missense_Mutation_p.E4409D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4559					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)				ACGATTCCGAAGTAGCCATGA	0.557										TCGA Ovarian(4;0.039)																											p.E4527D		.											.	FAT3-73	0			c.A13581T						.						38	40	40					11																	92624186		2069	4205	6274	SO:0001583	missense	120114	exon25			TTCCGAAGTAGCC	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.13677A>T	11.37:g.92624186A>T	ENSP00000298047:p.Glu4559Asp	Somatic	150	2		WXS	Illumina GAIIx	Phase_I	145	40	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.20	3.056200	0.55325	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;T;D;D	0.89123	-1.67;-1.48;-1.63;-2.47	5.41	0.47	0.16747	.	.	.	.	.	D	0.85682	0.5753	M	0.76574	2.34	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.78565	-0.2155	9	0.87932	D	0	.	5.7508	0.18146	0.5788:0.1328:0.2884:0.0	.	4527;4559	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	4559;4527;4409;862	ENSP00000298047:E4559D;ENSP00000387040:E4527D;ENSP00000432586:E4409D;ENSP00000436399:E862D	ENSP00000298047:E4559D	E	+	3	2	FAT3	92263834	0.316000	0.24580	0.940000	0.37924	0.793000	0.44817	0.116000	0.15561	0.042000	0.15717	0.533000	0.62120	GAA	.		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92624186	A	T	92624186	3	4	59	1	0	0	0	0	1	0	0	0	5713	69	3	5	13679	5	FAT3	11	92624186	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	5875022	92624186	42382330	147	12117											
BACE1	23621	hgsc.bcm.edu	37	chr11	117186506	117186506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccagggcagggcttgGgccatggtgggccccggcct	19	12	0	0	rs28917234	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:117186506G>A	ENST00000313005.6	-	1	466	c.6C>T	c.(4-6)gcC>gcT	p.A2A	AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000445823.2_Silent_p.A2A|BACE1_ENST00000513780.1_Silent_p.A2A|BACE1_ENST00000528053.1_Silent_p.A2A|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Silent_p.A2A	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	2					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)		GCAGGGCTTGGGCCATGGTGG	0.746													G|||	92	0.0183706	0.0023	0.0159	5008	,	,		10280	0		0.0378	False		,,,				2504	0.0409				p.A2A		.											.	BACE1-91	0			c.C6T						.	G	,,,	14,2658		0,14,1322	2	3	3		6,6,6,6	0.6	0.9	11	dbSNP_125	3	131,5129		1,129,2500	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,	1,143,3822	AA,AG,GG		2.4905,0.524,1.828	,,,	2/502,2/458,2/477,2/433	117186506	145,7787	1336	2630	3966	SO:0001819	synonymous_variant	23621	exon1			GGCTTGGGCCATG	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.6C>T	11.37:g.117186506G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_138972	0	0	0	0	0	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	CCDS8383.1																																																																																			G|0.979;A|0.021		0.746	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			A	117186506	G	A	117186506	2	1	59	1	0	0	0	0	0	0	0	1	1282	1219	43	3		3	BACE1	11	117186506	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	24562320	117186506	17820010	148	12118											
PDZD3	79849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	119057343	119057343	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgccagggtcttcaggaaGgagacaggatcctggcggtg	17	9	2	1	rs141570563		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:119057343G>T	ENST00000531114.1	+	2	1021	c.472G>T	c.(472-474)Gga>Tga	p.G158*	PDZD3_ENST00000355547.5_Nonsense_Mutation_p.G92*|PDZD3_ENST00000525131.1_Nonsense_Mutation_p.G79*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.G92*|PDZD3_ENST00000392817.2_Nonsense_Mutation_p.G158*			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	158	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTTCAGGAAGGAGACAGGAT	0.592																																					p.G92X		.											.	PDZD3-153	0			c.G274T						.						64	43	50					11																	119057343		2200	4295	6495	SO:0001587	stop_gained	79849	exon4			CAGGAAGGAGACA	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.472G>T	11.37:g.119057343G>T	ENSP00000431164:p.Gly158*	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	210	57	NM_001168468	0	0	0	0	0	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Nonsense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.428937	0.96131	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	.	.	.	5.28	5.28	0.74379	.	0.062187	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.0891	19.0957	0.93249	0.0:0.0:1.0:0.0	.	.	.	.	X	79;158;92;92;92;158	.	ENSP00000327107:G92X	G	+	1	0	PDZD3	118562553	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	5.518000	0.67068	2.755000	0.94549	0.655000	0.94253	GGA	G|1.000;A|0.000		0.592	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		T	119057343	G	T	119057343	4	4	59	1	0	0	0	0	0	1	0	0	11741	1001	35	3	288	3	PDZD3	11	119057343	Nonsense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1870837	119057343	15949173	149	12119											
B3GAT1	27087	hgsc.bcm.edu	37	chr11	134253805	134253805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgcgcagcaggcgcgcGgtcagcggcgtccggcgcgg	20	14	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr11:134253805G>A	ENST00000524765.1	-	3	4934	c.390C>T	c.(388-390)acC>acT	p.T130T	B3GAT1_ENST00000312527.4_Silent_p.T130T|B3GAT1_ENST00000392580.1_Silent_p.T130T|B3GAT1_ENST00000537389.1_Silent_p.T143T|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCAGGCGCGCGGTCAGCGGCG	0.706																																					p.T130T		.											.	B3GAT1-91	0			c.C390T						.						24	23	23					11																	134253805		2172	4207	6379	SO:0001819	synonymous_variant	27087	exon3			GCGCGCGGTCAGC	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.390C>T	11.37:g.134253805G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	21	9	NM_054025	0	0	0	0	0	Q96FS7	Silent	SNP	ENST00000524765.1	37	CCDS8500.1																																																																																			.		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		A	134253805	G	A	134253805	2	1	59	1	0	0	0	0	0	0	0	1	1254	1103	39	1		1	B3GAT1	11	134253805	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	15196462	134253805	752711	150	12120											
FKBP4	2288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2912330	2912330	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaggccaaggcagaggCttcctcaggagaccatccca	11	14	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:2912330C>G	ENST00000001008.4	+	10	1473	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.6_ENST00000552469.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	429					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			AAGGCAGAGGCTTCCTCAGGA	0.522																																					p.A429G		.											.	FKBP4-226	0			c.C1286G						.						62	53	56					12																	2912330		2203	4300	6503	SO:0001583	missense	2288	exon10			CAGAGGCTTCCTC	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1286C>G	12.37:g.2912330C>G	ENSP00000001008:p.Ala429Gly	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	64	17	NM_002014	0	0	0	0	0	D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865603	0.02590	.	.	ENSG00000004478	ENST00000001008	D	0.82344	-1.6	4.07	0.383	0.16239	.	1.908060	0.02348	N	0.075576	T	0.71492	0.3346	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53746	-0.8395	10	0.22706	T	0.39	-1.2012	5.6755	0.17745	0.0:0.4395:0.0:0.5605	.	429	Q02790	FKBP4_HUMAN	G	429	ENSP00000001008:A429G	ENSP00000001008:A429G	A	+	2	0	FKBP4	2782591	0.000000	0.05858	0.033000	0.17914	0.257000	0.26127	-0.143000	0.10296	0.178000	0.19917	-0.367000	0.07326	GCT	.		0.522	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2912330	C	G	2912330	3	3	59	1	0	0	0	0	1	0	0	0	5932	797	28	3	1324	3	FKBP4	12	2912330	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		2912330	130939565	151	12121											
C1S	716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7177252	7177252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctggcaagtcttctTtgacaacccatgggctggtg	10	13	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:7177252T>A	ENST00000406697.1	+	15	1992	c.1364T>A	c.(1363-1365)tTt>tAt	p.F455Y	C1S_ENST00000328916.3_Missense_Mutation_p.F455Y|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.F288Y|C1S_ENST00000360817.5_Missense_Mutation_p.F455Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	455	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)	CAAGTCTTCTTTGACAACCCA	0.488																																					p.F455Y	GBM(156;750 1943 12971 24779 31015)	.											.	C1S-91	0			c.T1364A						.						62	64	63					12																	7177252		2203	4300	6503	SO:0001583	missense	716	exon12			TCTTCTTTGACAA		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.1364T>A	12.37:g.7177252T>A	ENSP00000385035:p.Phe455Tyr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	100	23	NM_201442	0	0	0	0	0	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131372	0.56828	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.03	5.03	0.67393	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000564	D	0.84579	0.5503	N	0.20685	0.6	0.28760	N	0.90098	B	0.30634	0.288	B	0.39590	0.304	T	0.81033	-0.1116	10	0.48119	T	0.1	.	14.9297	0.70906	0.0:0.0:0.0:1.0	.	455	P09871	C1S_HUMAN	Y	455;455;455;449;288	ENSP00000385035:F455Y;ENSP00000328173:F455Y;ENSP00000354057:F455Y;ENSP00000384171:F288Y	ENSP00000328173:F455Y	F	+	2	0	C1S	7047513	0.980000	0.34600	0.831000	0.32960	0.103000	0.19146	3.373000	0.52394	2.107000	0.64212	0.379000	0.24179	TTT	.		0.488	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		A	7177252	T	A	7177252	3	1	59	1	0	0	0	0	1	0	0	0	1981	1841	64	5	1406	5	C1S	12	7177252	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	4264922	7177252	126674643	152	12122											
IPO8	10526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	30783824	30783824	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacagtcccaaaattAaatgcggagaggactccttt	10	10	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:30783824A>T	ENST00000256079.4	-	25	3422	c.3084T>A	c.(3082-3084)ttT>ttA	p.F1028L	IPO8_ENST00000544829.1_Missense_Mutation_p.F823L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1028					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCAAAATTAAATGCGGAGA	0.428																																					p.F1028L		.											.	IPO8-227	0			c.T3084A						.						105	103	103					12																	30783824		2203	4300	6503	SO:0001583	missense	10526	exon25			AAAATTAAATGCG	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.3084T>A	12.37:g.30783824A>T	ENSP00000256079:p.Phe1028Leu	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	87	21	NM_006390	0	0	0	0	0	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547127	0.86022	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.58060	1.31;0.36	4.37	3.19	0.36642	.	0.000000	0.49916	D	0.000129	T	0.61874	0.2382	M	0.66297	2.02	0.36653	D	0.877523	D;D	0.61080	0.98;0.989	P;P	0.58721	0.844;0.718	T	0.70410	-0.4879	10	0.72032	D	0.01	-17.3008	8.7239	0.34458	0.9101:0.0:0.0899:0.0	.	823;1028	B7Z7M3;O15397	.;IPO8_HUMAN	L	1028;504;823	ENSP00000256079:F1028L;ENSP00000444520:F823L	ENSP00000256079:F1028L	F	-	3	2	IPO8	30675091	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.178000	0.50879	1.812000	0.52913	0.460000	0.39030	TTT	.		0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		T	30783824	A	T	30783824	3	4	59	1	0	0	0	0	1	0	0	0	7825	359	13	5	33	5	IPO8	12	30783824	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	23606572	30783824	103068071	153	12123											
CNTN1	1272	broad.mit.edu	37	chr12	41419057	41419057	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctgccagacacccagTattttatagaagtcggggcc	9	12	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:41419057T>G	ENST00000551295.2	+	21	2746	c.2629T>G	c.(2629-2631)Tat>Gat	p.Y877D	CNTN1_ENST00000348761.2_Missense_Mutation_p.Y866D|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y877D	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGACACCCAGTATTTTATAGA	0.502																																					p.Y877D		.											.	CNTN1-1149	0			c.T2629G						.						167	186	179					12																	41419057		2203	4300	6503	SO:0001583	missense	1272	exon21			ACCCAGTATTTTA	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2629T>G	12.37:g.41419057T>G	ENSP00000447006:p.Tyr877Asp	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	70	4	NM_001843	0	0	0	0	0	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978343	0.74360	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	D;D;D	0.89343	-2.5;-2.5;-2.5	4.88	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97056	0.9767	10	0.72032	D	0.01	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	866;877	Q12860-2;Q12860	.;CNTN1_HUMAN	D	877;877;866	ENSP00000447006:Y877D;ENSP00000325660:Y877D;ENSP00000261160:Y866D	ENSP00000325660:Y877D	Y	+	1	0	CNTN1	39705324	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.375000	0.79646	2.127000	0.65507	0.533000	0.62120	TAT	.		0.502	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		G	41419057	T	G	41419057	3	3	59	1	0	0	0	0	1	0	0	0	3647	1638	57	5	2707	5	CNTN1	12	41419057	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	10635233	41419057	92432838	154	12124											
LETMD1	25875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	51451824	51451824	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagtggtataggcttgttatCtccgtggcctgaattctacg	12	8	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:51451824C>G	ENST00000262055.4	+	8	964	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.L192V|LETMD1_ENST00000418425.2_Missense_Mutation_p.L322V|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.L185V|LETMD1_ENST00000550929.1_Missense_Mutation_p.L253V	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	309	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GGCTTGTTATCTCCGTGGCCT	0.408																																					p.L322V		.											.	LETMD1-90	0			c.C964G						.						157	141	146					12																	51451824		2203	4300	6503	SO:0001583	missense	25875	exon8			TGTTATCTCCGTG	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.925C>G	12.37:g.51451824C>G	ENSP00000262055:p.Leu309Val	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	118	23	NM_001243689	0	0	0	0	0	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.89|10.89	1.478723|1.478723	0.26511|0.26511	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739	.|T;T;T;T;T;T;T;T;T	.|0.61158	.|0.91;0.91;0.91;0.91;0.13;0.91;0.91;0.91;0.91	5.21|5.21	5.21|5.21	0.72293|0.72293	.|LETM1-like (1);	.|0.267040	.|0.36482	.|N	.|0.002561	T|T	0.49184|0.49184	0.1542|0.1542	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47841	.|0.775;0.901;0.607;0.775	.|B;P;B;B	.|0.49085	.|0.306;0.6;0.12;0.306	T|T	0.26395|0.26395	-1.0104|-1.0104	5|10	.|0.17832	.|T	.|0.49	-13.1303|-13.1303	11.4497|11.4497	0.50145|0.50145	0.2761:0.7239:0.0:0.0|0.2761:0.7239:0.0:0.0	.|.	.|322;185;192;309	.|B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	M|V	92|276;253;309;259;117;64;322;185;192	.|ENSP00000446862:L276V;ENSP00000450163:L253V;ENSP00000262055:L309V;ENSP00000449896:L259V;ENSP00000448222:L117V;ENSP00000450391:L64V;ENSP00000389903:L322V;ENSP00000447419:L185V;ENSP00000450333:L192V	.|ENSP00000262055:L309V	I|L	+|+	3|1	3|0	LETMD1|LETMD1	49738091|49738091	0.650000|0.650000	0.27331|0.27331	0.995000|0.995000	0.50966|0.50966	0.961000|0.961000	0.63080|0.63080	0.714000|0.714000	0.25808|0.25808	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	ATC|CTC	.		0.408	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51451824	C	G	51451824	3	3	59	1	0	0	0	0	1	0	0	0	8764	913	32	3	955	3	LETMD1	12	51451824	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	10032767	51451824	82400071	155	12125											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	57594933	57594933	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggggaggatgagagggacTgccgtgagtgtcagaggtgg	21	4	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:57594933T>A	ENST00000243077.3	+	65	10808	c.10342T>A	c.(10342-10344)Tgc>Agc	p.C3448S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3448	LDL-receptor class A 23. {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)	TGAGAGGGACTGCCGTGAGTG	0.582																																					p.C3448S		.											.	LRP1-596	0			c.T10342A						.						186	161	169					12																	57594933		2203	4300	6503	SO:0001583	missense	4035	exon65			AGGGACTGCCGTG	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.10342T>A	12.37:g.57594933T>A	ENSP00000243077:p.Cys3448Ser	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	148	12	NM_002332	0	0	0	0	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	33	5.204228	0.95033	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;T	0.99919	-8.0;0.18	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.95850	3.73	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96020	0.9008	10	0.62326	D	0.03	.	14.5525	0.68078	0.0:0.0:0.0:1.0	.	3448	Q07954	LRP1_HUMAN	S	3448;15	ENSP00000243077:C3448S;ENSP00000451012:C15S	ENSP00000243077:C3448S	C	+	1	0	LRP1	55881200	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.771000	0.85420	2.276000	0.75962	0.454000	0.30748	TGC	.		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57594933	T	A	57594933	3	1	59	1	0	0	0	0	1	0	0	0	8986	1580	55	5	10600	5	LRP1	12	57594933	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	6143109	57594933	76256962	156	12126											
SLC26A10	65012	broad.mit.edu	37	chr12	58015619	58015619	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgccgatcccgggggaagtCgtcttggtgaggatggccgt	17	10	1	1	rs184174469	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:58015619C>T	ENST00000320442.4	+	4	1013	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SLC26A10_ENST00000379218.2_Silent_p.V234V|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	234						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CGGGGGAAGTCGTCTTGGTGA	0.687											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	18	0.00359425	0	0	5008	,	,		15370	0.0179		0	False		,,,				2504	0				p.V234V		.											.	SLC26A10-531	0			c.C702T						.						19	22	21					12																	58015619		2194	4293	6487	SO:0001819	synonymous_variant	65012	exon4			GGAAGTCGTCTTG		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.702C>T	12.37:g.58015619C>T		Somatic	58	0	1027	WXS	Illumina GAIIx	Phase_I	213	4	NM_133489	0	0	0	0	0	A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	CCDS8949.2																																																																																			C|0.994;T|0.006		0.687	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			T	58015619	C	T	58015619	2	4	59	1	0	0	0	0	0	0	0	1	14560	871	31	1		1	SLC26A10	12	58015619	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	420686	58015619	75836276	157	12127											
CAND1	55832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	67691276	67691276	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagacttgcagtgaggaaaaGaaccattatcgctcttggcc	10	9	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:67691276G>C	ENST00000545606.1	+	5	1018	c.581G>C	c.(580-582)aGa>aCa	p.R194T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	194					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)		GTGAGGAAAAGAACCATTATC	0.393																																					p.R194T		.											.	CAND1-516	0			c.G581C						.						154	151	152					12																	67691276		2203	4300	6503	SO:0001583	missense	55832	exon5			GGAAAAGAACCAT		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.581G>C	12.37:g.67691276G>C	ENSP00000442318:p.Arg194Thr	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	102	20	NM_018448	0	0	0	0	0	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885143	0.91814	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.34472	1.36	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.77175	-0.2684	9	.	.	.	-14.6833	19.6379	0.95744	0.0:0.0:1.0:0.0	.	194	Q86VP6	CAND1_HUMAN	T	194;194;36	ENSP00000442318:R194T	.	R	+	2	0	CAND1	65977543	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.827000	0.99397	2.657000	0.90304	0.655000	0.94253	AGA	.		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		C	67691276	G	C	67691276	3	2	59	1	0	0	0	0	1	0	0	0	2622	942	33	3	599	3	CAND1	12	67691276	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	9675657	67691276	66160619	158	12128											
C12orf12	196477	broad.mit.edu	37	chr12	91347423	91347423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcagcctctacgaagattGataaaggcatttccagaggc	9	10	2	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:91347423G>A	ENST00000358859.2	-	1	1530	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	366	Glu-rich.																TACGAAGATTGATAAAGGCAT	0.473																																					p.S366L		.											.	.	0			c.C1097T						.						149	143	145					12																	91347423		2203	4300	6503	SO:0001583	missense	196477	exon1			AAGATTGATAAAG	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1097C>T	12.37:g.91347423G>A	ENSP00000351727:p.Ser366Leu	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	111	4	NM_152638	0	0	0	0	0	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468875	0.26335	.	.	ENSG00000197651	ENST00000358859	T	0.24908	1.83	4.97	4.97	0.65823	.	0.000000	0.28730	N	0.014336	T	0.35422	0.0931	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	D	0.64776	0.929	T	0.11275	-1.0594	10	0.72032	D	0.01	-6.9436	13.9755	0.64271	0.0:0.0:1.0:0.0	.	366	Q8TC90	CL012_HUMAN	L	366	ENSP00000351727:S366L	ENSP00000351727:S366L	S	-	2	0	C12orf12	89871554	0.745000	0.28261	0.266000	0.24541	0.123000	0.20343	2.725000	0.47294	2.746000	0.94184	0.585000	0.79938	TCA	.		0.473	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		A	91347423	G	A	91347423	3	1	59	1	0	0	0	0	1	0	0	0	1681	1294	45	3	127	3	C12orf12	12	91347423	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	23656147	91347423	42504472	159	12129											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	59	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	4989760	96337183	37514712	160	12130											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	18	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	59	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	42	96337225	37514670	161	12131											
PAH	5053	broad.mit.edu;bcgsc.ca	37	chr12	103306614	103306614	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgcaccaacttcttctttGagtgagaagatcagtgatat	8	7	3	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:103306614G>T	ENST00000553106.1	-	2	595	c.123C>A	c.(121-123)ctC>ctA	p.L41L	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Silent_p.L36L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	41	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		L -> F (in PKU).|L -> P (in PKU; mild).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTCTTTGAGTGAGAAGA	0.378																																					p.L41L		.											.	PAH-72	0			c.C123A						.						227	194	205					12																	103306614		2203	4300	6503	SO:0001819	synonymous_variant	5053	exon2			TTCTTTGAGTGAG	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.123C>A	12.37:g.103306614G>T		Somatic	230	3		WXS	Illumina GAIIx	Phase_I	232	10	NM_000277	0	0	0	0	0	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																			.		0.378	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			T	103306614	G	T	103306614	2	4	59	1	0	0	0	0	0	0	0	1	11433	1277	45	3		3	PAH	12	103306614	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	6969389	103306614	30545281	162	12132											
FAM109A	144717	hgsc.bcm.edu	37	chr12	111800570	111800570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgggcgaagggggccAtgtccaggggcccgtggggt	21	11	0	0	rs564558968		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:111800570A>G	ENST00000547838.2	-	2	759	c.662T>C	c.(661-663)aTg>aCg	p.M221T	FAM109A_ENST00000361483.3_Missense_Mutation_p.M234T|FAM109A_ENST00000548163.1_Missense_Mutation_p.M221T|FAM109A_ENST00000450786.2_Missense_Mutation_p.W202R|FAM109A_ENST00000392658.5_Missense_Mutation_p.M221T			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	221	Pro-rich.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GAAGGGGGCCATGTCCAGGGG	0.741													A|||	1	0.000199681	0	0	5008	,	,		11754	0		0.001	False		,,,				2504	0				p.M234T		.											.	FAM109A-90	0			c.T701C						.																																			SO:0001583	missense	144717	exon4			GGGGCCATGTCCA	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.662T>C	12.37:g.111800570A>G	ENSP00000447353:p.Met221Thr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	23	10	NM_001177996	0	0	0	0	0	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP	ENST00000547838.2	37	CCDS9152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.024|0.024	-1.392076|-1.392076	0.01185|0.01185	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000547838;ENST00000361483;ENST00000392658;ENST00000548163|ENST00000450786	T;T;T;T|.	0.26518|.	1.73;1.75;1.73;1.73|.	4.14|4.14	1.07|1.07	0.20283|0.20283	.|.	.|.	.|.	.|.	.|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.01281|0.04013	0.0;0.0|0.001	T|T	0.20739|0.20739	-1.0266|-1.0266	9|8	0.02654|0.87932	T|D	1|0	.|.	5.0701|5.0701	0.14602|0.14602	0.2642:0.1502:0.5856:0.0|0.2642:0.1502:0.5856:0.0	.|.	221;218|202	Q8N4B1;B4DRN3|G3V0F1	SESQ1_HUMAN;.|.	T|R	221;234;221;221|202	ENSP00000447353:M221T;ENSP00000354461:M234T;ENSP00000376426:M221T;ENSP00000449994:M221T|.	ENSP00000354461:M234T|ENSP00000390552:W202R	M|W	-|-	2|1	0|0	FAM109A|FAM109A	110284953|110284953	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.107000|0.107000	0.19398|0.19398	-0.507000|-0.507000	0.06352|0.06352	-0.099000|-0.099000	0.12263|0.12263	-0.366000|-0.366000	0.07423|0.07423	ATG|TGG	.		0.741	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		G	111800570	A	G	111800570	3	3	59	1	0	0	0	0	1	0	0	0	5413	217	8	4	91	4	FAM109A	12	111800570	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	8493956	111800570	22051325	163	12133											
RNFT2	84900	hgsc.bcm.edu	37	chr12	117187907	117187907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaccaccaTttccaccatggcggccaccg	7	22	0	0	rs111256849	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:117187907T>C	ENST00000257575.4	+	4	578	c.345T>C	c.(343-345)caT>caC	p.H115H	RNFT2_ENST00000319176.7_Silent_p.H115H|RNFT2_ENST00000392549.2_Silent_p.H115H|RNFT2_ENST00000407967.3_Silent_p.H115H			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	115	His-rich.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCCACCACCATTTCCACCATG	0.746													C|||	1284	0.25639	0.4826	0.1326	5008	,	,		12011	0.1786		0.166	False		,,,				2504	0.2117				p.H115H		.											.	.	0			c.T345C						.	C	,	1295,2539		234,827,856	3	4	4		345,345	3.2	1	12	dbSNP_132	4	888,6786		67,754,3016	no	coding-synonymous,coding-synonymous	RNFT2	NM_001109903.1,NM_032814.3	,	301,1581,3872	CC,CT,TT		11.5715,33.7767,18.9694	,	115/445,115/421	117187907	2183,9325	1917	3837	5754	SO:0001819	synonymous_variant	84900	exon4			CCACCATTTCCAC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.345T>C	12.37:g.117187907T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	19	14	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			T|0.767;C|0.233		0.746	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117187907	T	C	117187907	2	2	59	1	0	0	0	0	0	0	0	1	13547	1490	52	4		4	RNFT2	12	117187907	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	5387337	117187907	16663988	164	12134											
RFC5	5985	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	118454660	118454660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagcactcaagcagcagGagcagcccgcggcgaccaag	12	16	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:118454660G>A	ENST00000454402.2	+	1	146	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	10					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGCAGCAGGAGCAGCCCGC	0.701																																					p.E10K		.											.	RFC5-227	0			c.G28A						.						24	25	25					12																	118454660		2196	4298	6494	SO:0001583	missense	5985	exon1			CAGCAGGAGCAGC		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.28G>A	12.37:g.118454660G>A	ENSP00000408295:p.Glu10Lys	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	176	43	NM_007370	0	0	0	0	0	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228043	0.22542	.	.	ENSG00000111445	ENST00000454402	T	0.13901	2.55	4.05	2.17	0.27698	.	0.977578	0.08358	N	0.958171	T	0.07098	0.0180	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.26916	-1.0089	10	0.06236	T	0.91	17.0228	12.1044	0.53803	0.0:0.4806:0.5194:0.0	.	24;10	Q59GW7;P40937	.;RFC5_HUMAN	K	10	ENSP00000408295:E10K	ENSP00000408295:E10K	E	+	1	0	RFC5	116939043	0.997000	0.39634	0.679000	0.29978	0.217000	0.24651	0.963000	0.29293	0.458000	0.26988	-0.304000	0.09214	GAG	.		0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		A	118454660	G	A	118454660	3	1	59	1	0	0	0	0	1	0	0	0	13293	1175	41	3	30	3	RFC5	12	118454660	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1266753	118454660	15397235	165	12135											
STX2	2054	broad.mit.edu	37	chr12	131285773	131285773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctccagcttcatgatGtccttgtgacgtgactcgat	10	11	2	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr12:131285773G>A	ENST00000392373.2	-	8	694	c.600C>T	c.(598-600)gaC>gaT	p.D200D	STX2_ENST00000261653.6_Silent_p.D200D	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	200	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GCTTCATGATGTCCTTGTGAC	0.378																																					p.D200D		.											.	STX2-90	0			c.C600T						.						138	118	125					12																	131285773		2203	4300	6503	SO:0001819	synonymous_variant	2054	exon8			CATGATGTCCTTG	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.600C>T	12.37:g.131285773G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	141	5	NM_194356	0	0	0	0	0	Q86VW8	Silent	SNP	ENST00000392373.2	37	CCDS9270.1																																																																																			.		0.378	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		A	131285773	G	A	131285773	2	1	59	1	0	0	0	0	0	0	0	1	15392	1368	48	3		3	STX2	12	131285773	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	12831113	131285773	2566122	166	12136											
MTUS2	23281	bcgsc.ca	37	chr13	29599410	29599410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcgggagcctgactcCgcagcatccacagcctctat	10	15	1	1	rs116224145	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:29599410C>T	ENST00000431530.3	+	1	663	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	192						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P202L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGACTCCGCAGCATCCA	0.582													C|||	157	0.0313498	0.0265	0.0159	5008	,	,		15906	0.0675		0.0278	False		,,,				2504	0.0153				p.P202L		.											.	MTUS2-218	1	Substitution - Missense(1)	NS(1)	c.C605T						.	C	LEU/PRO	116,4124		1,114,2005	36	42	40		605	-10.2	0	13	dbSNP_132	40	142,8334		1,140,4097	yes	missense	MTUS2	NM_001033602.2	98	2,254,6102	TT,TC,CC		1.6753,2.7358,2.0289	benign	202/1380	29599410	258,12458	2120	4238	6358	SO:0001583	missense	23281	exon1			TGACTCCGCAGCA	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.605C>T	13.37:g.29599410C>T	ENSP00000392057:p.Pro202Leu	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	98	5	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	67	0.030677655677655676	12	0.024390243902439025	8	0.022099447513812154	25	0.043706293706293704	22	0.029023746701846966	c	4.445	0.082414	0.08533	0.027358	0.016753	ENSG00000132938	ENST00000431530	T	0.11169	2.8	5.18	-10.2	0.00374	.	2.838500	0.01252	N	0.008901	T	0.00967	0.0032	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	9	.	.	.	.	2.181	0.03874	0.3365:0.2554:0.3043:0.1038	.	192	Q5JR59	MTUS2_HUMAN	L	202	ENSP00000392057:P202L	.	P	+	2	0	MTUS2	28497410	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.786000	0.04623	-1.796000	0.01253	-1.633000	0.00780	CCG	C|0.972;T|0.028		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599410	C	T	29599410	3	4	59	1	0	0	0	0	1	0	0	0	10004	652	23	1	607	1	MTUS2	13	29599410	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		29599410	85570468	167	12137											
DLEU7	220107	hgsc.bcm.edu	37	chr13	51417535	51417535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctctggggagttcGcccgcgccgcggtccgccga	13	19	1	0	rs898861	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:51417535G>A	ENST00000504404.1	-	1	297	c.248C>T	c.(247-249)gCg>gTg	p.A83V	DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000400393.3_Missense_Mutation_p.A83V			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	83			A -> V (in dbSNP:rs898861). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.										Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGGGGAGTTCGCCCGCGCCGC	0.811													G|||	885	0.176717	0.0968	0.1888	5008	,	,		8444	0.2917		0.1988	False		,,,				2504	0.135				p.A83V		.											.	.	0			c.C248T						.	G	VAL/ALA	212,2568		7,198,1185	2	3	3		248	1.8	0	13	dbSNP_86	3	970,5336		43,884,2226	yes	missense	DLEU7	NM_198989.2	64	50,1082,3411	AA,AG,GG		15.3822,7.6259,13.009	possibly-damaging	83/161	51417535	1182,7904	1390	3153	4543	SO:0001583	missense	220107	exon1			GAGTTCGCCCGCG	AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000504404.1:c.248C>T	13.37:g.51417535G>A	ENSP00000427177:p.Ala83Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		458	0.2097069597069597	57	0.11585365853658537	67	0.1850828729281768	188	0.32867132867132864	146	0.19261213720316622	G	11.22	1.574237	0.28092	0.076259	0.153822	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.49139	0.79;0.82	2.72	1.81	0.25067	.	0.342483	0.19746	U	0.107012	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.28026	0.198;0.198	B;B	0.25506	0.061;0.061	T	0.32587	-0.9901	9	0.07175	T	0.84	.	5.0335	0.14423	0.0:0.2383:0.5179:0.2437	rs898861;rs12869977	83;83	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	V	83;83;36	ENSP00000420976:A83V;ENSP00000427177:A83V	ENSP00000439677:A36V	A	-	2	0	DLEU7	50315536	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.065000	0.14466	0.650000	0.30769	0.491000	0.48974	GCG	G|0.789;A|0.211		0.811	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989		A	51417535	G	A	51417535	3	1	59	1	0	0	0	0	1	0	0	0	4567	1087	38	1	242	1	DLEU7	13	51417535	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	21818125	51417535	63752343	168	12138											
SLITRK6	84189	hgsc.bcm.edu	37	chr13	86369481	86369481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtgaagcatttccaaaGtgaaatattccactagatca	6	9	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:86369481G>T	ENST00000400286.2	-	2	1761	c.1163C>A	c.(1162-1164)aCt>aAt	p.T388N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	388					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATTTCCAAAGTGAAATATTC	0.358																																					p.T388N		.											.	SLITRK6-137	0			c.C1163A						.						71	65	67					13																	86369481		1839	4089	5928	SO:0001583	missense	84189	exon2			TCCAAAGTGAAAT	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1163C>A	13.37:g.86369481G>T	ENSP00000383143:p.Thr388Asn	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_032229	0	0	0	0	0	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952271	0.18431	.	.	ENSG00000184564	ENST00000400286	T	0.01947	4.54	5.76	4.9	0.64082	.	0.231644	0.33040	U	0.005341	T	0.00845	0.0028	N	0.00569	-1.365	0.32608	N	0.52502	B	0.02656	0.0	B	0.09377	0.004	T	0.31420	-0.9944	10	0.21014	T	0.42	-9.0543	9.0828	0.36563	0.0:0.1422:0.5641:0.2937	.	388	Q9H5Y7	SLIK6_HUMAN	N	388	ENSP00000383143:T388N	ENSP00000383143:T388N	T	-	2	0	SLITRK6	85267482	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.237000	0.51344	1.396000	0.46663	0.585000	0.79938	ACT	.		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86369481	G	T	86369481	3	4	59	1	0	0	0	0	1	0	0	0	14792	1029	36	3	1366	3	SLITRK6	13	86369481	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	34951946	86369481	28800397	169	12139											
COL4A2	1284	bcgsc.ca	37	chr13	111111173	111111173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctatcaaaggtcttccGggactgccaggacccaaggg	13	11	2	0	rs7990214	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:111111173G>A	ENST00000360467.5	+	22	1794	c.1488G>A	c.(1486-1488)ccG>ccA	p.P496P	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	496	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAGGTCTTCCGGGACTGCCAG	0.627													G|||	2461	0.491414	0.6505	0.4942	5008	,	,		18334	0.2232		0.5974	False		,,,				2504	0.4417				p.P496P		.											.	COL4A2-95	0			c.G1488A						.	G		2619,1419		871,877,271	95	100	99		1488	-10.7	0	13	dbSNP_116	99	5076,3278		1549,1978,650	no	coding-synonymous	COL4A2	NM_001846.2		2420,2855,921	AA,AG,GG		39.2387,35.1412,37.9035		496/1713	111111173	7695,4697	2019	4177	6196	SO:0001819	synonymous_variant	1284	exon22			TCTTCCGGGACTG	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1488G>A	13.37:g.111111173G>A		Somatic	183	1		WXS	Illumina GAIIx	Phase_I	183	7	NM_001846	0	0	0	0	0	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																			G|0.463;A|0.537		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111111173	G	A	111111173	2	1	59	1	0	0	0	0	0	0	0	1	3697	1103	39	1		1	COL4A2	13	111111173	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	24741692	111111173	4058705	170	12140											
COL4A2	1284	bcgsc.ca	37	chr13	111111235	111111235	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccggggaggaaaggggacaGaggagaccccggccaacacg	18	11	0	2	rs7990383	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:111111235G>A	ENST00000360467.5	+	22	1856	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	517	Triple-helical region.		R -> K (in dbSNP:rs7990383). {ECO:0000269|PubMed:21527998, ECO:0000269|PubMed:22209247, ECO:0000269|PubMed:3345760}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAAGGGGACAGAGGAGACCCC	0.607													A|||	2550	0.509185	0.7171	0.5	5008	,	,		18731	0.2232		0.5964	False		,,,				2504	0.4397				p.R517K		.											.	COL4A2-95	0			c.G1550A						.	A	LYS/ARG	2674,1178		945,784,197	41	46	45		1550	-10.1	0	13	dbSNP_116	45	5007,3245		1519,1969,638	yes	missense	COL4A2	NM_001846.2	26	2464,2753,835	AA,AG,GG		39.3238,30.5815,36.5416	benign	517/1713	111111235	7681,4423	1926	4126	6052	SO:0001583	missense	1284	exon22			GGGACAGAGGAGA	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1550G>A	13.37:g.111111235G>A	ENSP00000353654:p.Arg517Lys	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	163	7	NM_001846	0	0	0	0	0	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	1126	0.5155677655677655	355	0.7215447154471545	203	0.5607734806629834	117	0.20454545454545456	451	0.5949868073878628	A	4.997	0.185066	0.09495	0.694185	0.606762	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.95885	-3.84	5.37	-10.1	0.00402	.	1.354980	0.04859	N	0.443815	T	0.00012	0.0000	N	0.11000	0.08	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.43360	-0.9396	9	0.02654	T	1	.	3.0355	0.06121	0.2229:0.42:0.1878:0.1693	rs7990383;rs17457824;rs52809886;rs7990383	517	P08572	CO4A2_HUMAN	K	517	ENSP00000353654:R517K	ENSP00000257309:R517K	R	+	2	0	COL4A2	109909236	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.295000	0.02764	-1.566000	0.01673	-2.620000	0.00156	AGA	G|0.479;A|0.521		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111111235	G	A	111111235	3	1	59	1	0	0	0	0	1	0	0	0	3697	942	33	3	1632	3	COL4A2	13	111111235	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	62	111111235	4058643	171	12141											
MCF2L	23263	broad.mit.edu	37	chr13	113719264	113719264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaggccatcgaaagtttCgccctcatggtgaagcagac	10	13	1	2	rs199810332	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr13:113719264C>T	ENST00000375608.3	+	8	769	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000397030.1_Silent_p.F240F|MCF2L_ENST00000375597.4_Silent_p.F205F|MCF2L_ENST00000423482.2_Silent_p.F205F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577													C|||	5	0.000998403	0	0	5008	,	,		20712	0.005		0	False		,,,				2504	0				p.F207F		.											.	MCF2L-228	4	Substitution - coding silent(4)	lung(4)	c.C621T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	94	74	81		621,615	-4.2	0.1	13		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	207/1126,205/1124	113719264	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23263	exon7			AAGTTTCGCCCTC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.711C>T	13.37:g.113719264C>T		Somatic	144	2		WXS	Illumina GAIIx	Phase_I	187	4	NM_001112732	0	0	0	0	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37																																																																																				C|0.999;T|0.001		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			T	113719264	C	T	113719264	2	4	59	1	0	0	0	0	0	0	0	1	9417	883	31	1		1	MCF2L	13	113719264	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2608029	113719264	1450614	172	12142											
TRIM9	114088	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	51561207	51561207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtcaattaccccttccaGtacgcgattcttggggaagc	11	12	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:51561207G>T	ENST00000298355.3	-	1	1572	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	TRIM9_ENST00000338969.5_Missense_Mutation_p.L151M|TRIM9_ENST00000360392.4_Missense_Mutation_p.L151M	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	151					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)					ACCCCTTCCAGTACGCGATTC	0.647																																					p.L151M		.											.	TRIM9-227	0			c.C451A						.						21	23	22					14																	51561207		2203	4298	6501	SO:0001583	missense	114088	exon1			CTTCCAGTACGCG	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.451C>A	14.37:g.51561207G>T	ENSP00000298355:p.Leu151Met	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	136	9	NM_015163	0	0	0	0	0	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139718	0.37728	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.60672	1.84;1.84;0.17	5.14	2.28	0.28536	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000005	T	0.63721	0.2535	L	0.45137	1.4	0.36048	D	0.840555	D;D;P	0.89917	1.0;1.0;0.897	D;D;P	0.97110	1.0;1.0;0.593	T	0.65717	-0.6100	10	0.36615	T	0.2	.	8.9189	0.35599	0.2562:0.0:0.7438:0.0	.	151;151;151	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	M	151	ENSP00000298355:L151M;ENSP00000342970:L151M;ENSP00000353561:L151M	ENSP00000298355:L151M	L	-	1	2	TRIM9	50630957	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.588000	0.53964	0.567000	0.29293	0.561000	0.74099	CTG	.		0.647	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		T	51561207	G	T	51561207	3	4	59	1	0	0	0	0	1	0	0	0	16597	1020	36	3	1771	3	TRIM9	14	51561207	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10		51561207	55788333	173	12143											
LGALS3	3958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	55611906	55611906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgttgcagtacaatcatCgggttaaaaaactcaatgaa	7	7	2	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:55611906C>T	ENST00000254301.9	+	6	931	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	224	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GTACAATCATCGGGTTAAAAA	0.393																																					p.R224W		.											.	LGALS3-514	0			c.C670T						.						131	127	128					14																	55611906		1884	4113	5997	SO:0001583	missense	3958	exon6			AATCATCGGGTTA	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"Lectins, galactoside-binding", "Endogenous ligands"	6563	protein-coding gene	gene with protein product	"galectin 3"	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.670C>T	14.37:g.55611906C>T	ENSP00000254301:p.Arg224Trp	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	141	39	NM_002306	0	0	0	0	0	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	ENST00000254301.9	37	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829725	0.50845	.	.	ENSG00000131981	ENST00000254301	T	0.13089	2.62	5.9	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.051183	0.85682	D	0.000000	T	0.51686	0.1689	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65290	-0.6204	10	0.87932	D	0	-6.8355	8.9733	0.35919	0.1474:0.7773:0.0:0.0753	.	224	P17931	LEG3_HUMAN	W	224	ENSP00000254301:R224W	ENSP00000254301:R224W	R	+	1	2	LGALS3	54681659	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	3.321000	0.51999	1.519000	0.48950	-0.136000	0.14681	CGG	.		0.393	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		T	55611906	C	T	55611906	3	4	59	1	0	0	0	0	1	0	0	0	8771	875	31	1	688	1	LGALS3	14	55611906	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	4050699	55611906	51737634	174	12144											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81259439	81259439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttttccccattctccaGttcacgtgttaaattctacg	5	12	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:81259439G>C	ENST00000555265.1	-	14	1600	c.1225C>G	c.(1225-1227)Ctg>Gtg	p.L409V	CEP128_ENST00000281129.3_Missense_Mutation_p.L409V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	409						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCATTCTCCAGTTCACGTGTT	0.403																																					p.L409V		.											.	CEP128-91	0			c.C1225G						.						123	115	118					14																	81259439		2203	4300	6503	SO:0001583	missense	145508	exon13			TCTCCAGTTCACG	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1225C>G	14.37:g.81259439G>C	ENSP00000451162:p.Leu409Val	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	85	20	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	7.704	0.693798	0.15039	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.47177	0.85;0.85	5.51	1.91	0.25777	.	0.101366	0.39687	N	0.001300	T	0.55609	0.1931	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.50355	-0.8838	10	0.45353	T	0.12	.	4.8203	0.13387	0.5443:0.0:0.3216:0.134	.	409	Q6ZU80	CE128_HUMAN	V	409	ENSP00000281129:L409V;ENSP00000451162:L409V	ENSP00000281129:L409V	L	-	1	2	CEP128	80329192	0.998000	0.40836	0.448000	0.26945	0.027000	0.11550	1.595000	0.36708	0.078000	0.16900	-0.806000	0.03193	CTG	.		0.403	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		C	81259439	G	C	81259439	3	2	59	1	0	0	0	0	1	0	0	0	1754	1020	36	3	2107	3	C14orf145	14	81259439	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	25647533	81259439	26090101	175	12145											
KIAA1409	57578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	93962775	93962775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgtatcattgtcaattacTggaatgcctcatgaaatata	7	6	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:93962775T>A	ENST00000393151.2	+	6	731	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	UNC79_ENST00000256339.4_Missense_Mutation_p.L67Q|UNC79_ENST00000555664.1_Missense_Mutation_p.L244Q|UNC79_ENST00000553484.1_Missense_Mutation_p.L244Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	244					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						TGTCAATTACTGGAATGCCTC	0.274																																					p.L67Q		.											.	.	0			c.T200A						.						79	81	81					14																	93962775		2202	4287	6489	SO:0001583	missense	57578	exon6			AATTACTGGAATG	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.731T>A	14.37:g.93962775T>A	ENSP00000376858:p.Leu244Gln	Somatic	312	0		WXS	Illumina GAIIx	Phase_I	258	16	NM_020818	0	0	0	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.267251	0.80469	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27557	1.66;1.67;1.67;1.67	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.51041	0.1651	L	0.52573	1.65	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.52586	-0.8556	10	0.87932	D	0	-12.9559	15.8222	0.78662	0.0:0.0:0.0:1.0	.	244	C9JQL1	.	Q	67;244;244;244;244	ENSP00000256339:L67Q;ENSP00000450868:L244Q;ENSP00000451360:L244Q;ENSP00000376858:L244Q	ENSP00000256339:L67Q	L	+	2	0	KIAA1409	93032528	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.639000	0.83342	2.123000	0.65237	0.460000	0.39030	CTG	.		0.274	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	93962775	T	A	93962775	3	1	59	1	0	0	0	0	1	0	0	0	8257	1580	55	5	210	5	KIAA1409	14	93962775	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	12703336	93962775	13386765	176	12146											
OTUB2	78990	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	94510351	94510353	+	In_Frame_Del	DEL	CTT	CTT	-													tactgcagaccccaaatgacCttctggctgctggctttgag							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:94510351_94510353delCTT	ENST00000203664.5	+	4	462_464	c.253_255delCTT	c.(253-255)cttdel	p.L86del		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	86	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CCCAAATGACCTTCTGGCTGCTG	0.527																																					p.85_85del		.											.	OTUB2-500	0			c.253_255del						.																																			SO:0001651	inframe_deletion	78990	exon4			AATGACCTTCTGG	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"OTU domain containing"	20351	protein-coding gene	gene with protein product		608338	"chromosome 14 open reading frame 137", "OTU domain, ubiquitin aldehyde binding 2"	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.253_255delCTT	14.37:g.94510351_94510353delCTT	ENSP00000203664:p.Leu86del	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	251	57	NM_023112	0	0	0	0	0	Q6IA10|Q9H6T1	In_Frame_Del	DEL	ENST00000203664.5	37	CCDS9917.1																																																																																			.		0.527	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			-	94510353	CTT	-	94510351	7	5	59	1	0	1	0	1	0	0	0	0	11351	681	24	0	267	0	OTUB2	14	94510351	In_Frame_Del	DEL	CTT	TCGA-P6-A5OH-01A-11D-A30A-10	547576	94510351	12839189	177	12147											
EML1	2009	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	100404174	100404174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttccctctgcctgtaagCaagtcgtaagtgtggaaact	12	9	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:100404174C>T	ENST00000262233.6	+	20	2255	c.2116C>T	c.(2116-2118)Caa>Taa	p.Q706*	EML1_ENST00000327921.9_Nonsense_Mutation_p.Q694*|EML1_ENST00000334192.4_Nonsense_Mutation_p.Q725*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	706	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCTGTAAGCAAGTCGTAAG	0.502																																					p.Q725X		.											.	EML1-138	0			c.C2173T						.						240	206	217					14																	100404174		2203	4300	6503	SO:0001587	stop_gained	2009	exon21			TGTAAGCAAGTCG	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2116C>T	14.37:g.100404174C>T	ENSP00000262233:p.Gln706*	Somatic	125	1		WXS	Illumina GAIIx	Phase_I	173	34	NM_001008707	0	0	0	0	0	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	41	8.854017	0.98978	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-18.2741	18.1469	0.89661	0.0:1.0:0.0:0.0	.	.	.	.	X	694;706;725;725	.	ENSP00000262233:Q706X	Q	+	1	0	EML1	99473927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.455000	0.80726	2.364000	0.80123	0.561000	0.74099	CAA	.		0.502	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		T	100404174	C	T	100404174	4	4	59	1	0	0	0	0	0	1	0	0	5112	711	25	3	2255	3	EML1	14	100404174	Nonsense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	5893823	100404174	6945366	178	12148											
CKB	1152	hgsc.bcm.edu	37	chr14	103988180	103988180	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcgagcttctcgatggcGcggcgctccccgcggctgca	14	17	1	0	rs1136165	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3	4	3		456	0	1	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	10	NM_001823	0	0	0	0	0	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			T	103988180	G	T	103988180	2	4	59	1	0	0	0	0	0	0	0	1	3453	1074	38	2		2	CKB	14	103988180	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	3584006	103988180	3361360	179	12149											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644984	104644984	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtggacctgcccccGcccctggctggctccctgaa	13	17	0	1	rs375841914	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr14:104644984G>T	ENST00000423312.2	+	13	5208	c.5208G>T	c.(5206-5208)ccG>ccT	p.P1736P	KIF26A_ENST00000315264.7_Silent_p.P1597P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1736					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCTGCCCCCGCCCCTGGCTG	0.721																																					p.P1736P		.											.	KIF26A-24	0			c.G5208T						.						4	5	5					14																	104644984		1722	3898	5620	SO:0001819	synonymous_variant	26153	exon13			GCCCCCGCCCCTG	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5208G>T	14.37:g.104644984G>T		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	58	12	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			.		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			T	104644984	G	T	104644984	2	4	59	1	0	0	0	0	0	0	0	1	8321	1074	38	2		2	KIF26A	14	104644984	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	656804	104644984	2704556	180	12150											
C15orf2	23742	hgsc.bcm.edu	37	chr15	24921115	24921115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcccgggacgcctcccCgcccggtcgggctcactctg	12	20	2	0	rs35022251	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:24921115C>A	ENST00000329468.2	+	1	575	c.101C>A	c.(100-102)cCg>cAg	p.P34Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	34			P -> Q (in dbSNP:rs35022251).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACGCCTCCCCGCCCGGTCGG	0.711													C|||	130	0.0259585	0.0023	0.0303	5008	,	,		10406	0		0.0586	False		,,,				2504	0.0481				p.P34Q		.											.	.	0			c.C101A						.	C	GLN/PRO	32,4026		0,32,1997	7	10	9		101	-4.8	0	15	dbSNP_126	9	352,7666		8,336,3665	no	missense	C15orf2	NM_018958.2	76	8,368,5662	AA,AC,CC		4.3901,0.7886,3.1799	benign	34/1157	24921115	384,11692	2029	4009	6038	SO:0001583	missense	23742	exon1			CCTCCCCGCCCGG	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.101C>A	15.37:g.24921115C>A	ENSP00000333735:p.Pro34Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	63	0.028846153846153848	2	0.0040650406504065045	10	0.027624309392265192	0	0.0	51	0.06728232189973615	.	2.243	-0.373292	0.05034	0.007886	0.043901	ENSG00000185823	ENST00000329468	T	0.08720	3.06	2.42	-4.83	0.03161	.	.	.	.	.	T	0.00210	0.0006	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46133	-0.9213	9	0.19147	T	0.46	.	7.4625	0.27304	0.2268:0.4738:0.2994:0.0	rs35022251	34	Q9NZP6	CO002_HUMAN	Q	34	ENSP00000333735:P34Q	ENSP00000333735:P34Q	P	+	2	0	C15orf2	22472208	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.979000	0.00992	-1.747000	0.00681	CCG	C|0.970;A|0.030		0.711	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921115	C	A	24921115	3	1	59	1	0	0	0	0	1	0	0	0	1789	652	23	2	103	2	C15orf2	15	24921115	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		24921115	77610277	181	12151											
C15orf2	23742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	24921967	24921967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggagcgctgctcctcCcagagctgcccgcaacaggc	11	17	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:24921967C>A	ENST00000329468.2	+	1	1427	c.953C>A	c.(952-954)cCc>cAc	p.P318H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	318	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCTGCTCCTCCCAGAGCTGCC	0.587																																					p.P318H		.											.	.	0			c.C953A						.						48	48	48					15																	24921967		2203	4300	6503	SO:0001583	missense	23742	exon1			CTCCTCCCAGAGC	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.953C>A	15.37:g.24921967C>A	ENSP00000333735:p.Pro318His	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	43	15	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128145	0.37533	.	.	ENSG00000185823	ENST00000329468	T	0.14266	2.52	1.82	-0.18	0.13295	.	1.079520	0.07366	N	0.884993	T	0.25082	0.0609	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.72338	0.977	T	0.19063	-1.0317	10	0.56958	D	0.05	.	4.1173	0.10088	0.0:0.5985:0.0:0.4015	.	318	Q9NZP6	CO002_HUMAN	H	318	ENSP00000333735:P318H	ENSP00000333735:P318H	P	+	2	0	C15orf2	22473060	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.385000	0.07379	-0.050000	0.13356	0.205000	0.17691	CCC	.		0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921967	C	A	24921967	3	1	59	1	0	0	0	0	1	0	0	0	1789	623	22	3	955	3	C15orf2	15	24921967	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	852	24921967	77609425	182	12152											
DUOX1	53905	hgsc.bcm.edu	37	chr15	45453135	45453135	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcgacaagctggtgagccTgagccggaagaaggtggaga	19	7	0	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:45453135T>A	ENST00000321429.4	+	30	4210	c.3803T>A	c.(3802-3804)cTg>cAg	p.L1268Q	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1268Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.L914Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1268	Ferric oxidoreductase.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGGTGAGCCTGAGCCGGAAG	0.587																																					p.L1268Q		.											.	DUOX1-142	0			c.T3803A						.						128	109	115					15																	45453135		2198	4298	6496	SO:0001583	missense	53905	exon30			TGAGCCTGAGCCG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3803T>A	15.37:g.45453135T>A	ENSP00000317997:p.Leu1268Gln	Somatic	147	0		WXS	Illumina GAIIx	Phase_I	163	15	NM_017434	0	0	0	0	0	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277630	0.80692	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87412	-2.25;-2.25	3.47	3.47	0.39725	.	0.072010	0.56097	D	0.000025	D	0.92535	0.7629	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.93014	0.6434	10	0.72032	D	0.01	-8.3023	10.2086	0.43128	0.0:0.0:0.0:1.0	.	1268	Q9NRD9	DUOX1_HUMAN	Q	1268	ENSP00000317997:L1268Q;ENSP00000373689:L1268Q	ENSP00000317997:L1268Q	L	+	2	0	DUOX1	43240427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	1.563000	0.49615	0.379000	0.24179	CTG	.		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45453135	T	A	45453135	3	1	59	1	0	0	0	0	1	0	0	0	4814	1580	55	5	3913	5	DUOX1	15	45453135	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	20531168	45453135	57078257	183	12153											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	54542551	54542551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtgaagggctcctgtgGggcattgcaaggcaaggcat	17	7	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:54542551G>T	ENST00000260323.11	+	7	3357	c.3357G>T	c.(3355-3357)tgG>tgT	p.W1119C	UNC13C_ENST00000537900.1_Missense_Mutation_p.W1117C|UNC13C_ENST00000545554.1_Missense_Mutation_p.W1119C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1119					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)		GGCTCCTGTGGGGCATTGCAA	0.512																																					p.W1119C		.											.	UNC13C-51	0			c.G3357T						.						100	98	99					15																	54542551		2140	4279	6419	SO:0001583	missense	440279	exon6			CCTGTGGGGCATT	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.3357G>T	15.37:g.54542551G>T	ENSP00000260323:p.Trp1119Cys	Somatic	261	0		WXS	Illumina GAIIx	Phase_I	190	47	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283466	0.80803	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.93547	-3.24;-3.24;-3.24	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	H	0.96861	3.895	0.80722	D	1	D	0.55172	0.97	D	0.65684	0.937	D	0.98997	1.0810	10	0.87932	D	0	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	1119	Q8NB66	UN13C_HUMAN	C	1119;1119;1117	ENSP00000260323:W1119C;ENSP00000438156:W1119C;ENSP00000442569:W1117C	ENSP00000260323:W1119C	W	+	3	0	UNC13C	52329843	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.856000	0.99531	2.626000	0.88956	0.650000	0.86243	TGG	.		0.512	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54542551	G	T	54542551	3	4	59	1	0	0	0	0	1	0	0	0	17035	1241	43	3	3379	3	UNC13C	15	54542551	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	9089416	54542551	47988841	184	12154											
ISLR	3671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74467204	74467204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggaggcaccatgcAggagctgcatctgctctggt	13	12	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:74467204A>G	ENST00000249842.3	+	2	362	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	ISLR_ENST00000395118.1_Missense_Mutation_p.Q2R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	2					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCACCATGCAGGAGCTGCAT	0.622																																					p.Q2R		.											.	ISLR-155	0			c.A5G						.						28	27	28					15																	74467204		2198	4297	6495	SO:0001583	missense	3671	exon2			CCATGCAGGAGCT	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.5A>G	15.37:g.74467204A>G	ENSP00000249842:p.Gln2Arg	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	41	14	NM_201526	0	0	0	0	0		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	A	5.245	0.230686	0.09969	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.61040	0.14;0.14	3.91	-7.83	0.01201	.	1.239000	0.06120	N	0.668731	T	0.29458	0.0734	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14200	-1.0481	10	0.15066	T	0.55	.	1.9418	0.03348	0.1934:0.3915:0.2203:0.1948	.	2	O14498	ISLR_HUMAN	R	2	ENSP00000249842:Q2R;ENSP00000378550:Q2R	ENSP00000249842:Q2R	Q	+	2	0	ISLR	72254257	0.000000	0.05858	0.001000	0.08648	0.441000	0.31987	-1.712000	0.01885	-3.201000	0.00217	-0.736000	0.03550	CAG	.		0.622	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		G	74467204	A	G	74467204	3	3	59	1	0	0	0	0	1	0	0	0	7885	188	7	4	7	4	ISLR	15	74467204	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	19924653	74467204	28064188	185	12155											
PTPN9	5780	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	75809664	75809665	+	Frame_Shift_Del	DEL	AT	AT	-													tggcataattagaaccacacAtgtcatagataaacaccagt							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:75809664_75809665delAT	ENST00000306726.2	-	5	975_976	c.463_464delAT	c.(463-465)atgfs	p.M155fs		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAACCACACATGTCATAGATA	0.416																																					p.155_155del		.											.	PTPN9-226	0			c.463_464del						.																																			SO:0001589	frameshift_variant	5780	exon5			CCACACATGTCAT		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.463_464delAT	15.37:g.75809664_75809665delAT	ENSP00000303554:p.Met155fs	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	92	29	NM_002833	0	0	0	0	0	Q53XR9	Frame_Shift_Del	DEL	ENST00000306726.2	37	CCDS10280.1																																																																																			.		0.416	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			-	75809665	AT	-	75809664	7	5	59	1	0	1	0	1	0	0	0	0	12839	217	8	0	1353	0	PTPN9	15	75809664	Frame_Shift_Del	DEL	AT	TCGA-P6-A5OH-01A-11D-A30A-10	1342460	75809664	26721728	186	12156											
MESP2	145873	hgsc.bcm.edu	37	chr15	90319773	90319773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccgagctgcagctcccGagccgcagaggcagccgcga	14	17	0	1	rs566641514	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr15:90319773G>A	ENST00000341735.3	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	62					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TGCAGCTCCCGAGCCGCAGAG	0.746													G|||	2	0.000399361	0	0	5008	,	,		12077	0		0.002	False		,,,				2504	0				p.R62Q		.											.	MESP2-68	0			c.G185A						.						1	2	2					15																	90319773		1189	2703	3892	SO:0001583	missense	145873	exon1			GCTCCCGAGCCGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.185G>A	15.37:g.90319773G>A	ENSP00000342392:p.Arg62Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_001039958	0	0	0	0	0	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	3.019	-0.202264	0.06219	.	.	ENSG00000188095	ENST00000341735	T	0.78924	-1.22	2.11	-1.41	0.08941	.	.	.	.	.	T	0.52419	0.1733	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.30090	-0.9990	9	0.23891	T	0.37	.	2.8229	0.05477	0.3425:0.2461:0.4114:0.0	.	62	Q0VG99	MESP2_HUMAN	Q	62	ENSP00000342392:R62Q	ENSP00000342392:R62Q	R	+	2	0	MESP2	88120777	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.613000	0.00883	-0.185000	0.10550	-0.680000	0.03767	CGA	.		0.746	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90319773	G	A	90319773	3	1	59	1	0	0	0	0	1	0	0	0	9521	1058	37	1	187	1	MESP2	15	90319773	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	14510109	90319773	12211619	187	12157											
UNKL	64718	broad.mit.edu	37	chr16	1417283	1417283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgcagcgccagctgcCggtcgctatcggccacacgg	12	16	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:1417283C>T	ENST00000389221.4	-	14	1846	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UNKL_ENST00000403703.1_Missense_Mutation_p.R118Q|UNKL_ENST00000397464.1_Missense_Mutation_p.R118Q|UNKL_ENST00000508903.2_Missense_Mutation_p.R619Q|UNKL_ENST00000248104.7_Missense_Mutation_p.R115Q|UNKL_ENST00000402641.2_Missense_Mutation_p.R118Q|UNKL_ENST00000391893.2_Missense_Mutation_p.R115Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	616					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGCCAGCTGCCGGTCGCTATC	0.692																																					p.R619Q		.											.	UNKL-90	0			c.G1856A						.						14	11	12					16																	1417283		2162	4209	6371	SO:0001583	missense	64718	exon14			AGCTGCCGGTCGC	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1847G>A	16.37:g.1417283C>T	ENSP00000373873:p.Arg616Gln	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	118	10	NM_001193388	0	0	0	0	0	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.792428	0.50102	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903	T;T;T;T;T;T	0.77750	-1.12;-0.2;-1.12;-1.12;-0.29;-1.12	5.38	2.02	0.26589	.	.	.	.	.	T	0.79335	0.4428	M	0.64997	1.995	0.80722	D	1	P;D;P	0.76494	0.954;0.999;0.783	B;P;B	0.56751	0.336;0.805;0.084	T	0.74352	-0.3693	9	0.29301	T	0.29	.	7.3001	0.26415	0.0:0.6476:0.0:0.3524	.	616;115;619	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	Q	115;616;118;115;118;118;619	ENSP00000248104:R115Q;ENSP00000373873:R616Q;ENSP00000385895:R118Q;ENSP00000375763:R115Q;ENSP00000380606:R118Q;ENSP00000384850:R118Q	ENSP00000248104:R115Q	R	-	2	0	UNKL	1357284	0.929000	0.31497	1.000000	0.80357	0.356000	0.29392	1.399000	0.34566	0.669000	0.31146	0.444000	0.29173	CGG	.		0.692	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		T	1417283	C	T	1417283	3	4	59	1	0	0	0	0	1	0	0	0	17050	652	23	1	353	1	UNKL	16	1417283	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		1417283	88937470	188	12158											
CLCN7	1186	bcgsc.ca	37	chr16	1503879	1503879	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagttcaaggcattgaacacTgctccaagcacaccgcctgc	8	14	1	1	rs2235579	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:1503879T>A	ENST00000382745.4	-	14	1775	c.1170A>T	c.(1168-1170)gcA>gcT	p.A390A	CLCN7_ENST00000262318.8_Silent_p.A366A|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.A366A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	390					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CATTGAACACTGCTCCAAGCA	0.602													A|||	2784	0.555911	0.5197	0.5346	5008	,	,		16225	0.6895		0.4861	False		,,,				2504	0.5542				p.A390A		.											.	CLCN7-92	0			c.A1170T						.	A	,	2308,2090	571.5+/-383.1	614,1080,505	111	85	94		1098,1170	-8.3	0.7	16	dbSNP_98	94	4312,4288	575.4+/-390.2	1060,2192,1048	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	1674,3272,1553	AA,AT,TT		49.8605,47.5216,49.0691	,	366/782,390/806	1503879	6620,6378	2199	4300	6499	SO:0001819	synonymous_variant	1186	exon14			GAACACTGCTCCA	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1170A>T	16.37:g.1503879T>A		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	216	9	NM_001287	0	0	0	0	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																			T|0.472;A|0.528		0.602	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1503879	T	A	1503879	2	1	59	1	0	0	0	0	0	0	0	1	3475	1567	55	5		5	CLCN7	16	1503879	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	86596	1503879	88850874	189	12159											
SYNGR3	9143	hgsc.bcm.edu	37	chr16	2042139	2042139	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcgccgccttcctgctgctCgatgtgcgcttccagcaaat	10	15	0	0	rs12922682	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:2042139C>A	ENST00000248121.2	+	2	422	c.264C>A	c.(262-264)ctC>ctA	p.L88L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	88	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						TCCTGCTGCTCGATGTGCGCT	0.736													c|||	14	0.00279553	0.0023	0.0029	5008	,	,		8836	0		0.008	False		,,,				2504	0.001				p.L88L		.											.	SYNGR3-90	0			c.C264A						.	T		2,4148		0,2,2073	4	5	5		264	-1.4	0.9	16	dbSNP_121	5	65,8143		0,65,4039	no	coding-synonymous	SYNGR3	NM_004209.5		0,67,6112	AA,AC,CC		0.7919,0.0482,0.5422		88/230	2042139	67,12291	2075	4104	6179	SO:0001819	synonymous_variant	9143	exon2			GCTGCTCGATGTG	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.264C>A	16.37:g.2042139C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	50	33	NM_004209	0	0	0	0	0	B2R9S0	Silent	SNP	ENST00000248121.2	37	CCDS10456.1																																																																																			C|0.996;A|0.004		0.736	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			A	2042139	C	A	2042139	2	1	59	1	0	0	0	0	0	0	0	1	15497	871	31	2		2	SYNGR3	16	2042139	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	538260	2042139	88312614	190	12160											
ZNF598	90850	hgsc.bcm.edu	37	chr16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcagctcccgcctTcccgctcaggagctgccgcc	10	20	1	0	rs71384660		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							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						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1	1	1	5008	,	,		5162	1		1	False		,,,				2504	1				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1	2	2					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	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		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167		C	2059674	T	C	2059674	3	2	59	1	0	0	0	0	1	0	0	0	18076	1770	62	4	2689	4	ZNF598	16	2059674	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	17535	2059674	88295079	191	12161											
MEFV	4210	hgsc.bcm.edu	37	chr16	3304463	3304463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgtttctgcgcagcCggacctcggcctggcccccc	13	18	1	0	rs224222	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:3304463C>T	ENST00000219596.1	-	2	644	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	202			R -> Q (in dbSNP:rs224222). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9668175}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCTGCGCAGCCGGACCTCGGC	0.771													C|||	681	0.135982	0.0363	0.3242	5008	,	,		10819	0.0308		0.2783	False		,,,				2504	0.0992				p.R202Q		.											.	MEFV-228	0			c.G605A	GRCh37	CM044663	MEFV	M	rs224222	.	C	GLN/ARG,	280,4020		7,266,1877	9	11	10		605,	-5.2	0	16	dbSNP_79	10	1996,6326		253,1490,2418	no	missense,intron	MEFV	NM_000243.2,NM_001198536.1	43,	260,1756,4295	TT,TC,CC		23.9846,6.5116,18.032	benign,	202/782,	3304463	2276,10346	2150	4161	6311	SO:0001583	missense	4210	exon2			CGCAGCCGGACCT	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.605G>A	16.37:g.3304463C>T	ENSP00000219596:p.Arg202Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	16	9	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	367	0.16804029304029305	20	0.04065040650406504	120	0.3314917127071823	18	0.03146853146853147	209	0.2757255936675462	C	1.316	-0.600781	0.03744	0.065116	0.239846	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.62364	0.03	4.79	-5.23	0.02798	.	2.737930	0.01004	N	0.003723	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.15896	-1.0421	9	0.02654	T	1	-27.8034	1.8616	0.03189	0.114:0.2357:0.2258:0.4246	rs224222	202	O15553	MEFV_HUMAN	Q	202	ENSP00000219596:R202Q	ENSP00000219596:R202Q	R	-	2	0	MEFV	3244464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.420000	0.01032	-1.150000	0.02840	-2.943000	0.00086	CGG	C|0.816;T|0.184		0.771	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3304463	C	T	3304463	3	4	59	1	0	0	0	0	1	0	0	0	9497	652	23	1	1776	1	MEFV	16	3304463	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1244789	3304463	87050290	192	12162											
DNASE1	1773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3705910	3705910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagacagccacctgactgccGtggggaagctgctggacaac	14	12	0	2	rs571444570		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:3705910G>C	ENST00000246949.5	+	3	3417	c.208G>C	c.(208-210)Gtg>Ctg	p.V70L	DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Missense_Mutation_p.V70L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	70					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CCTGACTGCCGTGGGGAAGCT	0.627																																					p.V70L		.											.	DNASE1-90	0			c.G208C						.						103	85	91					16																	3705910		2197	4300	6497	SO:0001583	missense	1773	exon3			ACTGCCGTGGGGA		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.208G>C	16.37:g.3705910G>C	ENSP00000246949:p.Val70Leu	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	204	50	NM_005223	0	0	0	0	0	B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	CCDS10507.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143810	0.77888	.	.	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.50548	0.74;0.74	4.96	4.96	0.65561	Endonuclease/exonuclease/phosphatase (2);	0.122227	0.56097	D	0.000029	T	0.50497	0.1619	M	0.64676	1.99	0.80722	D	1	P	0.44659	0.84	P	0.46659	0.523	T	0.51616	-0.8683	10	0.46703	T	0.11	-1.5672	11.1052	0.48199	0.0852:0.0:0.9148:0.0	.	70	P24855	DNAS1_HUMAN	L	70	ENSP00000385905:V70L;ENSP00000246949:V70L	ENSP00000246949:V70L	V	+	1	0	DNASE1	3645911	0.999000	0.42202	0.949000	0.38748	0.995000	0.86356	3.480000	0.53172	2.474000	0.83562	0.462000	0.41574	GTG	G|1.000;T|0.000		0.627	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			C	3705910	G	C	3705910	3	2	59	1	0	0	0	0	1	0	0	0	4674	1145	40	2	214	2	DNASE1	16	3705910	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	401447	3705910	86648843	193	12163											
ADCY7	113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50326734	50326734	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcatcgagaagcgccagCaggtgggacccggcccccac	14	16	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:50326734C>T	ENST00000394697.2	+	5	1025	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	ADCY7_ENST00000566433.2_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000254235.3_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000537579.1_Nonsense_Mutation_p.Q229*|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	229					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAAGCGCCAGCAGGTGGGACC	0.582																																					p.Q229X		.											.	ADCY7-91	0			c.C685T						.						68	76	73					16																	50326734		2198	4300	6498	SO:0001587	stop_gained	113	exon4			CGCCAGCAGGTGG	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.685C>T	16.37:g.50326734C>T	ENSP00000378187:p.Gln229*	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	47	14	NM_001114	0	0	0	0	0	A0AVA6	Nonsense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	40	8.168278	0.98686	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	.	.	.	5.14	5.14	0.70334	.	0.000000	0.42172	U	0.000759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000254235:Q229X	Q	+	1	0	ADCY7	48884235	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.497000	0.81536	2.668000	0.90789	0.655000	0.94253	CAG	.		0.582	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			T	50326734	C	T	50326734	4	4	59	1	0	0	0	0	0	1	0	0	299	711	25	3	699	3	ADCY7	16	50326734	Nonsense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	46620824	50326734	40028019	194	12164											
CDH1	999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	68867311	68867314	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													ctccctgaactcctcagagtCagacaaagaccaggactatg					rs569928380		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CAGA	CAGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:68867311_68867314delCAGA	ENST00000261769.5	+	16	2749_2752	c.2558_2561delCAGA	c.(2557-2562)tcagacfs	p.SD853fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.SD792fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	853	Required for binding alpha, beta and gamma catenins.				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)			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)		TCCTCAGAGTCAGACAAAGACCAG	0.544			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																												p.853_854del		.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	.	CDH1-3377	0			c.2558_2561del						.																																			SO:0001589	frameshift_variant	999	exon16	Familial Cancer Database	HDGC	CAGAGTCAGACAA	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.2558_2561delCAGA	16.37:g.68867311_68867314delCAGA	ENSP00000261769:p.Ser853fs	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	146	24	NM_004360	0	0	0	0	0	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	ENST00000261769.5	37	CCDS10869.1																																																																																			.		0.544	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		-	68867314	CAGA	-	68867311	7	5	59	1	0	1	0	1	0	0	0	0	3102	838	29	0	2620	0	CDH1	16	68867311	Frame_Shift_Del	DEL	CAGA	TCGA-P6-A5OH-01A-11D-A30A-10	18540577	68867311	21487442	195	12165											
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	59	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-P6-A5OH-01A-11D-A30A-10	19732385	88599696	1755057	196	12166	118	3									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-													ggagaggccagagcggagccTctggcccagaatggaggcag					rs67322929|rs149145771	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1	1	1					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599701	T	-	88599701	7	5	59	1	0	1	0	1	0	0	0	0	17705	1538	54	0	1373	0	ZFPM1	16	88599701	Frame_Shift_Del	DEL	T	TCGA-P6-A5OH-01A-11D-A30A-10	5	88599701	1755052	197	12167	118	3									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-													agaggccagagcggagcctcTggcccagaatggaggcagca					rs149145771|rs67873604	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	10	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	TGG	-	88599703	7	5	59	1	0	1	0	1	0	0	0	0	17705	1580	55	0	1375	0	ZFPM1	16	88599703	In_Frame_Del	DEL	TGG	TCGA-P6-A5OH-01A-11D-A30A-10	2	88599703	1755050	198	12168	118	3									
CYBA	1535	hgsc.bcm.edu	37	chr16	88709869	88709869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttgcgggcctcggcCgggggccgcggcggggggtt	22	12	1	0	rs72547284	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr16:88709869C>T	ENST00000261623.3	-	6	618	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	160	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	gggcctcggccgggggccgcg	0.761													C|||	43	0.00858626	0.0023	0.0259	5008	,	,		6547	0		0.0179	False		,,,				2504	0.0041				p.P160P		.											.	CYBA-90	0			c.G480A						.	C		5,2091		0,5,1043	1	2	2		480	-9	0	16	dbSNP_130	2	77,5181		0,77,2552	no	coding-synonymous	CYBA	NM_000101.2		0,82,3595	TT,TC,CC		1.4644,0.2385,1.115		160/196	88709869	82,7272	1048	2629	3677	SO:0001819	synonymous_variant	1535	exon6			CTCGGCCGGGGGC		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"Cytochrome b genes"	2577	protein-coding gene	gene with protein product	"flavocytochrome b-558 alpha polypeptide"	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.480G>A	16.37:g.88709869C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_000101	0	0	0	0	0	Q14090|Q9BR72	Silent	SNP	ENST00000261623.3	37	CCDS32504.1																																																																																			C|0.985;T|0.015		0.761	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		T	88709869	C	T	88709869	2	4	59	1	0	0	0	0	0	0	0	1	4140	639	23	1		1	CYBA	16	88709869	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	110166	88709869	1644884	199	12169											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693384	4693384	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccgtgcggccctgggTccgcatcacccctggctggt	13	17	1	0	rs150754782	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:4693384T>C	ENST00000331264.7	+	4	722	c.669T>C	c.(667-669)ggT>ggC	p.G223G		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	223						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.G223G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CGGCCCTGGGTCCGCATCACC	0.766													T|||	90	0.0179712	0.0015	0.0288	5008	,	,		10010	0.003		0.0596	False		,,,				2504	0.0051				p.G223G		.											.	GLTPD2-68	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.T669C						.	T		9,3409		0,9,1700	2	3	3		669	-0.3	0.9	17	dbSNP_134	3	203,7141		2,199,3471	no	coding-synonymous	GLTPD2	NM_001014985.2		2,208,5171	CC,CT,TT		2.7642,0.2633,1.9699		223/292	4693384	212,10550	1709	3672	5381	SO:0001819	synonymous_variant	388323	exon4			CCTGGGTCCGCAT	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.669T>C	17.37:g.4693384T>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	16	9	NM_001014985	0	0	0	0	0	A7E2T2	Silent	SNP	ENST00000331264.7	37	CCDS32534.1																																																																																			T|0.978;C|0.022		0.766	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		C	4693384	T	C	4693384	2	2	59	1	0	0	0	0	0	0	0	1	6499	1654	58	4		4	GLTPD2	17	4693384	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10		4693384	76501826	200	12170											
PLSCR3	100529211	hgsc.bcm.edu	37	chr17	7297121	7297121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagggtagggaggtggGggcgaaggggcgtagccttt	22	5	0	1	rs2277641	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:7297121G>A	ENST00000576362.1	-	2	199	c.42C>T	c.(40-42)ccC>ccT	p.P14P	TMEM256-PLSCR3_ENST00000324822.11_Silent_p.P14P|TMEM256-PLSCR3_ENST00000535512.1_Silent_p.P14P|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Silent_p.P14P|TMEM256-PLSCR3_ENST00000576201.1_Silent_p.P14P					TMEM256-PLSCR3 readthrough (NMD candidate)																		AGGGAGGTGGGGGCGAAGGGG	0.662													G|||	169	0.033746	0.0015	0.0375	5008	,	,		12381	0.0863		0.0308	False		,,,				2504	0.0235				p.P14P		.											.	PLSCR3-22	0			c.C42T						.	G	,	14,2896		1,12,1442	2	3	3		42,42	3.9	1	17	dbSNP_100	3	136,6508		10,116,3196	no	coding-synonymous,coding-synonymous	PLSCR3	NM_001201576.1,NM_020360.3	,	11,128,4638	AA,AG,GG		2.047,0.4811,1.57	,	14/296,14/296	7297121	150,9404	1455	3322	4777	SO:0001819	synonymous_variant	57048	exon3			AGGTGGGGGCGAA			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.42C>T	17.37:g.7297121G>A		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_020360	0	0	0	0	0		Silent	SNP	ENST00000576362.1	37																																																																																				G|0.929;A|0.071		0.662	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			A	7297121	G	A	7297121	2	1	59	1	0	0	0	0	0	0	0	1	12150	1219	43	3		3	PLSCR3	17	7297121	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	2603737	7297121	73898089	201	12171											
LSMD1	84316	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	7760499	7760499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagccgccgagtcctcGcgctctccgtccgaatcctg	10	19	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:7760499G>A	ENST00000335155.5	-	2	98	c.99C>T	c.(97-99)cgC>cgT	p.R33R	LSMD1_ENST00000576861.1_Silent_p.R7R|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575071.1_5'UTR|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000333775.5_Silent_p.R81R|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000576384.1_5'UTR|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000575208.1_5'UTR			Q9BRA0	LSMD1_HUMAN		33					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CCGAGTCCTCGCGCTCTCCGT	0.692											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R81R	GBM(66;626 1401 29924 42527)	.											.	LSMD1-91	0			c.C243T						.						63	66	65					17																	7760499		2202	4293	6495	SO:0001819	synonymous_variant	84316	exon1			GTCCTCGCGCTCT																												ENST00000335155.5:c.99C>T	17.37:g.7760499G>A		Somatic	62	1	644	WXS	Illumina GAIIx	Phase_I	95	19	NM_032356	0	0	0	0	0	Q8N4M0	Silent	SNP	ENST00000335155.5	37																																																																																				.		0.692	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	7760499	G	A	7760499	2	1	59	1	0	0	0	0	0	0	0	1	9097	1074	38	1		1	LSMD1	17	7760499	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	463378	7760499	73434711	202	12172											
MYH2	4620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10428659	10428659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgttccgtgaggtcagaaAtctcctctgttgtttgagta	10	8	4	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:10428659A>T	ENST00000245503.5	-	33	4928	c.4544T>A	c.(4543-4545)aTt>aAt	p.I1515N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.I1515N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1515					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						GAGGTCAGAAATCTCCTCTGT	0.378																																					p.I1515N		.											.	MYH2-194	0			c.T4544A						.						92	83	86					17																	10428659		2203	4300	6503	SO:0001583	missense	4620	exon33			TCAGAAATCTCCT		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.4544T>A	17.37:g.10428659A>T	ENSP00000245503:p.Ile1515Asn	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	60	20	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386812	0.82902	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82344	-1.6;-1.6	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.39759	U	0.001279	D	0.93180	0.7828	M	0.94021	3.485	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94857	0.8018	10	0.87932	D	0	.	15.2299	0.73378	1.0:0.0:0.0:0.0	.	1515	Q9UKX2	MYH2_HUMAN	N	1515	ENSP00000245503:I1515N;ENSP00000380367:I1515N	ENSP00000245503:I1515N	I	-	2	0	MYH2	10369384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.113000	0.94321	2.190000	0.69967	0.482000	0.46254	ATT	.		0.378	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10428659	A	T	10428659	3	4	59	1	0	0	0	0	1	0	0	0	10073	101	4	5	1313	5	MYH2	17	10428659	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	2668160	10428659	70766551	203	12173											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400090	13400090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgacgaagtaactgggcgtCttctccatggtgatctgccc	12	11	3	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:13400090C>G	ENST00000284110.1	-	2	1442	c.645G>C	c.(643-645)aaG>aaC	p.K215N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.K13N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	215	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AACTGGGCGTCTTCTCCATGG	0.617																																					p.K215N		.											.	HS3ST3A1-515	0			c.G645C						.						57	66	63					17																	13400090		2203	4300	6503	SO:0001583	missense	9955	exon2			GGGCGTCTTCTCC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.645G>C	17.37:g.13400090C>G	ENSP00000284110:p.Lys215Asn	Somatic	272	1		WXS	Illumina GAIIx	Phase_I	419	13	NM_006042	0	0	0	0	0	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807873	0.70797	.	.	ENSG00000153976	ENST00000284110	T	0.53423	0.62	5.32	4.32	0.51571	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.77624	0.4158	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83639	0.0149	10	0.87932	D	0	.	10.6131	0.45434	0.0:0.7903:0.1357:0.074	.	215	Q9Y663	HS3SA_HUMAN	N	215	ENSP00000284110:K215N	ENSP00000284110:K215N	K	-	3	2	HS3ST3A1	13340815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.675000	0.37555	1.507000	0.48752	0.563000	0.77884	AAG	.		0.617	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		G	13400090	C	G	13400090	3	3	59	1	0	0	0	0	1	0	0	0	7392	912	32	3	579	3	HS3ST3A1	17	13400090	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2971431	13400090	67795120	204	12174											
UBB	7314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	16285604	16285604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaagcagctggaagAtggccgcactctttctgact	12	11	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:16285604A>G	ENST00000395837.1	+	2	564	c.383A>G	c.(382-384)gAt>gGt	p.D128G	UBB_ENST00000395839.1_Missense_Mutation_p.D128G|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.D128G|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	128	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.D128G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CAGCTGGAAGATGGCCGCACT	0.547																																					p.D128G	Melanoma(163;1126 3406 34901)	.											.	UBB-47	1	Substitution - Missense(1)	lung(1)	c.A383G						.						83	84	84					17																	16285604		2203	4299	6502	SO:0001583	missense	7314	exon2			TGGAAGATGGCCG		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.383A>G	17.37:g.16285604A>G	ENSP00000379178:p.Asp128Gly	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	437	83	NM_018955	0	0	0	0	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635593	0.47049	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.53423	0.62;0.62;0.62	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000067	T	0.72423	0.3458	M	0.93898	3.47	0.80722	D	1	P	0.35493	0.505	P	0.52823	0.71	T	0.78388	-0.2223	10	0.87932	D	0	.	12.6923	0.56982	1.0:0.0:0.0:0.0	.	128	P0CG47	UBB_HUMAN	G	128	ENSP00000304697:D128G;ENSP00000379180:D128G;ENSP00000379178:D128G	ENSP00000304697:D128G	D	+	2	0	UBB	16226329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.275000	0.89892	1.662000	0.50781	0.524000	0.50904	GAT	.		0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		G	16285604	A	G	16285604	3	3	59	1	0	0	0	0	1	0	0	0	16890	333	12	4	385	4	UBB	17	16285604	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	2885514	16285604	64909606	205	12175											
SMCR8	140775	broad.mit.edu	37	chr17	18221001	18221001	+	Frame_Shift_Del	DEL	A	A	-													ccgtgtagacttttcagtggAaaatgccaacccttcttccc							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:18221001delA	ENST00000406438.3	+	1	2378	c.1898delA	c.(1897-1899)gaafs	p.E633fs	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	633						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTTCAGTGGAAAATGCCAAC	0.587																																					p.E633fs		.											.	SMCR8-91	0			c.1898delA						.						64	61	62					17																	18221001		2203	4300	6503	SO:0001589	frameshift_variant	140775	exon1			CAGTGGAAAATGC	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1898delA	17.37:g.18221001delA	ENSP00000385025:p.Glu633fs	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	187	7	NM_144775	0	0	0	0	0	A5PKZ5|Q3ZCN0|Q6PJL3	Frame_Shift_Del	DEL	ENST00000406438.3	37	CCDS11195.2																																																																																			.		0.587	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		-	18221001	A	-	18221001	7	5	59	1	0	1	0	1	0	0	0	0	14837	246	9	0	1900	0	SMCR8	17	18221001	Frame_Shift_Del	DEL	A	TCGA-P6-A5OH-01A-11D-A30A-10	1935397	18221001	62974209	206	12176											
NEK8	284086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	27064883	27064883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcccaccaccactgtcGtcagtgtatgcctggggtgg	12	14	1	0	rs146798411	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:27064883G>A	ENST00000268766.6	+	7	970	c.936G>A	c.(934-936)tcG>tcA	p.S312S	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	312					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CACCACTGTCGTCAGTGTATG	0.627													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		14534	0		0	False		,,,				2504	0				p.S312S	NSCLC(6;19 293 14866 25253 49845)	.											.	NEK8-335	0			c.G936A						.	G		5,4401	8.1+/-20.4	0,5,2198	62	69	67		936	-11.1	0	17	dbSNP_134	67	0,8598		0,0,4299	no	coding-synonymous	NEK8	NM_178170.2		0,5,6497	AA,AG,GG		0.0,0.1135,0.0384		312/693	27064883	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	284086	exon7			ACTGTCGTCAGTG	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.936G>A	17.37:g.27064883G>A		Somatic	70	0		WXS	Illumina GAIIx	Phase_I	237	35	NM_178170	0	0	0	0	0	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	CCDS32597.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	4.242	0.043850	0.08196	0.001135	0.0	ENSG00000160602	ENST00000543014	T	0.70986	-0.53	5.54	-11.1	0.00147	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	6	0.29301	T	0.29	.	6.7338	0.23399	0.0773:0.1697:0.5053:0.2477	.	.	.	.	I	366	ENSP00000465859:V366I	ENSP00000446066:V366I	V	+	1	0	NEK8	24089010	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-3.117000	0.00597	-4.849000	0.00029	-2.511000	0.00188	GTC	G|1.000;A|0.000		0.627	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			A	27064883	G	A	27064883	2	1	59	1	0	0	0	0	0	0	0	1	10369	1132	40	1		1	NEK8	17	27064883	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	8843882	27064883	54130327	207	12177											
KRTAP3-2	83897	bcgsc.ca	37	chr17	39156027	39156027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggcagactccacagcGgcaggatttgtcggaggagc	17	10	0	1	rs3829598	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:39156027G>A	ENST00000391587.1	-	1	111	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	27	3 X 5 AA repeats of C-C-X(3).		R -> C (in dbSNP:rs3829598).			keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				ACTCCACAGCGGCAGGATTTG	0.612													.|||	872	0.174121	0.0265	0.2709	5008	,	,		18323	0.2629		0.169	False		,,,				2504	0.2188				p.R27C		.											.	.	0			c.C79T						.	G	CYS/ARG	191,4215	120.4+/-158.0	6,179,2018	71	81	78		79	2.6	1	17	dbSNP_107	78	1495,7097	281.3+/-295.0	129,1237,2930	no	missense	KRTAP3-2	NM_031959.2	180	135,1416,4948	AA,AG,GG		17.3999,4.335,12.9712	probably-damaging	27/99	39156027	1686,11312	2203	4296	6499	SO:0001583	missense	83897	exon1			CACAGCGGCAGGA	AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"Keratin associated proteins"	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.79C>T	17.37:g.39156027G>A	ENSP00000375429:p.Arg27Cys	Somatic	315	3		WXS	Illumina GAIIx	Phase_I	195	8	NM_031959	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391587.1	37	CCDS32644.1	372	0.17032967032967034	13	0.026422764227642278	91	0.2513812154696133	140	0.24475524475524477	128	0.16886543535620052	G	15.53	2.862235	0.51482	0.04335	0.173999	ENSG00000212900	ENST00000391587	T	0.33865	1.39	5.76	2.56	0.30785	.	0.000000	0.51477	D	0.000100	T	0.00039	0.0001	.	.	.	0.22199	P	0.99929956	D	0.89917	1.0	D	0.87578	0.998	T	0.04307	-1.0961	8	0.87932	D	0	.	11.8174	0.52218	0.0:0.0:0.5368:0.4632	rs3829598	27	Q9BYR7	KRA32_HUMAN	C	27	ENSP00000375429:R27C	ENSP00000375429:R27C	R	-	1	0	KRTAP3-2	36409553	1.000000	0.71417	0.959000	0.39883	0.472000	0.32918	2.055000	0.41345	0.312000	0.23038	-0.318000	0.08688	CGC	G|0.865;A|0.135		0.612	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1			A	39156027	G	A	39156027	3	1	59	1	0	0	0	0	1	0	0	0	8574	1116	39	1	221	1	KRTAP3-2	17	39156027	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	12091144	39156027	42039183	208	12178											
FKBP10	60681	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39974745	39974745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagagaaggaagattatcatCcctccattcctggcctatgg	10	10	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:39974745C>G	ENST00000321562.4	+	4	797	c.693C>G	c.(691-693)atC>atG	p.I231M	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	231	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGATTATCATCCCTCCATTCC	0.557																																					p.I231M		.											.	FKBP10-227	0			c.C693G						.						112	92	99					17																	39974745		2203	4300	6503	SO:0001583	missense	60681	exon4			TATCATCCCTCCA	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.693C>G	17.37:g.39974745C>G	ENSP00000317232:p.Ile231Met	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	142	45	NM_021939	0	0	0	0	0	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605014	0.66445	.	.	ENSG00000141756	ENST00000321562;ENST00000414352	D	0.90844	-2.74	5.53	2.13	0.27403	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.138224	0.45867	D	0.000337	D	0.95037	0.8393	M	0.89840	3.065	0.80722	D	1	D	0.67145	0.996	D	0.73380	0.98	D	0.94245	0.7488	10	0.72032	D	0.01	-11.3554	9.4911	0.38960	0.1252:0.734:0.0:0.1408	.	231	Q96AY3	FKB10_HUMAN	M	231	ENSP00000317232:I231M	ENSP00000317232:I231M	I	+	3	3	FKBP10	37228271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.116000	0.31221	0.730000	0.32425	0.561000	0.74099	ATC	.		0.557	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		G	39974745	C	G	39974745	3	3	59	1	0	0	0	0	1	0	0	0	5924	845	30	3	707	3	FKBP10	17	39974745	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	818718	39974745	41220465	209	12179											
BECN1	8678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40963676	40963676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgcgctatactgacctgTagggaagacaaaaacgtgtc	10	9	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:40963676T>C	ENST00000361523.4	-	11	1313	c.1181A>G	c.(1180-1182)tAc>tGc	p.Y394C	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.Y394C	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	394					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TACTGACCTGTAGGGAAGACA	0.443																																					p.Y394C		.											.	BECN1-228	0			c.A1181G						.						177	149	158					17																	40963676		2203	4300	6503	SO:0001583	missense	8678	exon11			GACCTGTAGGGAA	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1181A>G	17.37:g.40963676T>C	ENSP00000355231:p.Tyr394Cys	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	97	27	NM_003766	0	0	0	0	0	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752410	0.69533	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.61859	0.07	5.54	5.54	0.83059	.	0.057070	0.64402	D	0.000001	T	0.79161	0.4399	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82619	-0.0368	10	0.62326	D	0.03	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	394	Q14457	BECN1_HUMAN	C	394;307	ENSP00000355231:Y394C	ENSP00000355231:Y394C	Y	-	2	0	BECN1	38217202	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.836000	0.86788	2.326000	0.78906	0.533000	0.62120	TAC	.		0.443	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		C	40963676	T	C	40963676	3	2	59	1	0	0	0	0	1	0	0	0	1397	1638	57	4	179	4	BECN1	17	40963676	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	988931	40963676	40231534	210	12180											
GRN	2896	broad.mit.edu	37	chr17	42427607	42427607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacaggtaacaactccGtgggtgccatccagtgccct	10	14	0	0	rs63749940		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:42427607G>A	ENST00000053867.3	+	5	423	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	GRN_ENST00000589265.1_Missense_Mutation_p.V121M	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	121					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACAACTCCGTGGGTGCCAT	0.602																																					p.V121M		.											.	GRN-517	0			c.G361A	GRCh37	CD075440	GRN	D	rs63749940	.						197	166	177					17																	42427607		2203	4300	6503	SO:0001583	missense	2896	exon5			AACTCCGTGGGTG	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.361G>A	17.37:g.42427607G>A	ENSP00000053867:p.Val121Met	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	155	5	NM_002087	0	0	0	0	0	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	g	6.281	0.419956	0.11928	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.70869	-0.52	3.89	-7.78	0.01223	.	0.792111	0.10534	N	0.663510	T	0.52191	0.1719	L	0.52011	1.625	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.27872	-1.0061	10	0.34782	T	0.22	0.5809	2.683	0.05100	0.1991:0.4599:0.2058:0.1351	.	121	P28799	GRN_HUMAN	M	121	ENSP00000053867:V121M	ENSP00000053867:V121M	V	+	1	0	GRN	39783133	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-2.170000	0.01268	-2.484000	0.00521	-1.503000	0.00956	GTG	.		0.602	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		A	42427607	G	A	42427607	3	1	59	1	0	0	0	0	1	0	0	0	6831	1145	40	1	375	1	GRN	17	42427607	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	1463931	42427607	38767603	211	12181											
MARCH10	162333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	60779069	60779069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttggcttccttgctagaCgacctggctttgagaaatgc	11	10	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:60779069C>T	ENST00000311269.5	-	11	2696	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	MARCH10_ENST00000456609.2_Missense_Mutation_p.V808I|MARCH10_ENST00000583600.1_Missense_Mutation_p.V846I|MARCH10_ENST00000582358.1_5'UTR|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	808					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCTTGCTAGACGACCTGGCTT	0.572																																					p.V808I		.											.	MARCH10-90	0			c.G2422A						.						192	169	177					17																	60779069		2203	4300	6503	SO:0001583	missense	162333	exon11			GCTAGACGACCTG	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2422G>A	17.37:g.60779069C>T	ENSP00000311496:p.Val808Ile	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	109	16	NM_001100875	0	0	0	0	0	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	7.703	0.693565	0.15039	.	.	ENSG00000173838	ENST00000456609;ENST00000311269	T;T	0.12672	2.66;2.66	5.06	-2.78	0.05859	.	.	.	.	.	T	0.05456	0.0144	N	0.16478	0.41	0.21325	N	0.999729	B	0.15719	0.014	B	0.08055	0.003	T	0.43048	-0.9415	9	0.02654	T	1	.	5.7271	0.18018	0.0:0.392:0.1382:0.4698	.	808	Q8NA82	MARHA_HUMAN	I	808	ENSP00000416177:V808I;ENSP00000311496:V808I	ENSP00000311496:V808I	V	-	1	0	MARCH10	58132801	0.000000	0.05858	0.003000	0.11579	0.533000	0.34776	-1.543000	0.02194	-0.913000	0.03832	-0.254000	0.11334	GTC	.		0.572	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		T	60779069	C	T	60779069	3	4	59	1	0	0	0	0	1	0	0	0	9337	536	19	1	8	1	MARCH10	17	60779069	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	18351462	60779069	20416141	212	12182											
RAB37	326624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	72740494	72740494	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccagagggacgtggtgatCatgctgctaggcaacaaggt	15	9	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:72740494C>T	ENST00000392613.5	+	6	470	c.414C>T	c.(412-414)atC>atT	p.I138I	RAB37_ENST00000528438.1_Silent_p.I111I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392610.1_Silent_p.I138I|RAB37_ENST00000392614.4_Silent_p.I143I|RAB37_ENST00000392615.5_Silent_p.I106I|RAB37_ENST00000392612.3_Silent_p.I101I|RAB37_ENST00000402449.4_Silent_p.I131I|RAB37_ENST00000340415.3_Silent_p.I131I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	138					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ACGTGGTGATCATGCTGCTAG	0.602											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I143I		.											.	RAB37-230	0			c.C429T						.						139	117	124					17																	72740494		2203	4300	6503	SO:0001819	synonymous_variant	326624	exon6			GGTGATCATGCTG	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.414C>T	17.37:g.72740494C>T		Somatic	62	0	1139	WXS	Illumina GAIIx	Phase_I	124	10	NM_001163989	0	0	0	0	0	A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	37	CCDS32722.1																																																																																			.		0.602	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		T	72740494	C	T	72740494	2	4	59	1	0	0	0	0	0	0	0	1	12972	816	29	3		3	RAB37	17	72740494	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	11961425	72740494	8454716	213	12183											
FDXR	2232	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	72862635	72862635	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcccacctccacgttgCcccagaaggcacagcggcca	9	20	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:72862635C>G	ENST00000293195.5	-	4	404	c.326G>C	c.(325-327)gGc>gCc	p.G109A	FDXR_ENST00000442102.2_Missense_Mutation_p.G152A|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.G140A|FDXR_ENST00000455107.2_Missense_Mutation_p.G65A|FDXR_ENST00000581530.1_Missense_Mutation_p.G109A|FDXR_ENST00000582944.1_Missense_Mutation_p.G101A|FDXR_ENST00000544854.1_Missense_Mutation_p.G57A|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000583917.1_Missense_Mutation_p.G110A	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	109					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)	CTCCACGTTGCCCCAGAAGGC	0.647																																					p.G152A		.											.	FDXR-226	0			c.G455C						.						40	34	36					17																	72862635		2203	4300	6503	SO:0001583	missense	2232	exon4			ACGTTGCCCCAGA	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.326G>C	17.37:g.72862635C>G	ENSP00000293195:p.Gly109Ala	Somatic	184	1		WXS	Illumina GAIIx	Phase_I	401	102	NM_001258012	0	0	0	0	0	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312529	0.60414	.	.	ENSG00000161513	ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.993;0.999;0.987;0.971;0.982;1.0;0.982;1.0	T	0.73113	-0.4085	10	0.72032	D	0.01	-9.4406	18.0275	0.89273	0.0:1.0:0.0:0.0	.	152;140;107;57;140;109;101;109;109	B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	A	57;109;65;152;140	ENSP00000445432:G57A;ENSP00000293195:G109A;ENSP00000390875:G65A;ENSP00000416515:G152A;ENSP00000408595:G140A	ENSP00000293195:G109A	G	-	2	0	FDXR	70374230	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	5.771000	0.68881	2.362000	0.80069	0.561000	0.74099	GGC	.		0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		G	72862635	C	G	72862635	3	3	59	1	0	0	0	0	1	0	0	0	5829	739	26	3	1203	3	FDXR	17	72862635	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	122141	72862635	8332575	214	12184											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	76424635	76424635	+	Frame_Shift_Del	DEL	C	C	-													gcgggacactcccgtgcctgCccccgagtccgtctcttttg							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:76424635delC	ENST00000585328.1	-	77	12668	c.12544delG	c.(12544-12546)gcafs	p.A4182fs	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.A4181fs	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4181					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)			CCCGTGCCTGCCCCCGAGTCC	0.597																																					p.A4187fs		.											.	DNAH17-142	0			c.12559delG						.						57	48	51					17																	76424635		2203	4300	6503	SO:0001589	frameshift_variant	8632	exon77			TGCCTGCCCCCGA	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.12544delG	17.37:g.76424635delC	ENSP00000465516:p.Ala4182fs	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	154	43	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37																																																																																				.		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		-	76424635	C	-	76424635	7	5	59	1	0	1	0	1	0	0	0	0	4615	739	26	0	849	0	DNAH17	17	76424635	Frame_Shift_Del	DEL	C	TCGA-P6-A5OH-01A-11D-A30A-10	3562000	76424635	4770575	215	12185											
TIMP2	7077	hgsc.bcm.edu	37	chr17	76921135	76921135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgccagcagcaggaggccGagcgccagccgcagggtgcg	18	14	0	0	rs577686887	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:76921135G>A	ENST00000262768.7	-	1	334	c.36C>T	c.(34-36)ctC>ctT	p.L12L	TIMP2_ENST00000536189.2_5'Flank	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	12					aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GCAGGAGGCCGAGCGCCAGCC	0.781													G|||	90	0.0179712	0.0098	0.0159	5008	,	,		2705	0		0.0398	False		,,,				2504	0.0266				p.L12L		.											.	TIMP2-650	0			c.C36T						.						2	2	2					17																	76921135		972	1756	2728	SO:0001819	synonymous_variant	7077	exon1			GAGGCCGAGCGCC		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.36C>T	17.37:g.76921135G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	8	NM_003255	0	0	0	0	0	Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	37	CCDS11758.1																																																																																			.		0.781	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		A	76921135	G	A	76921135	2	1	59	1	0	0	0	0	0	0	0	1	15965	1045	37	1		1	TIMP2	17	76921135	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	496500	76921135	4274075	216	12186											
BAHCC1	57597	broad.mit.edu	37	chr17	79410879	79410881	+	In_Frame_Del	DEL	GAG	GAG	-													acgcgctggacctggaggctGaggaggagaggacgaggcta							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:79410879_79410881delGAG	ENST00000307745.7	+	10	2260_2262	c.2260_2262delGAG	c.(2260-2262)gagdel	p.E756del	RP11-1055B8.7_ENST00000570375.1_3'UTR																							CCTGGAGGCTGAGGAGGAGAGGA	0.69																																					.		.											.	BAHCC1-23	0			.						.																																			SO:0001651	inframe_deletion	57597	.			GAGGCTGAGGAGG																												ENST00000307745.7:c.2260_2262delGAG	17.37:g.79410885_79410887delGAG	ENSP00000303486:p.Glu756del	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	108	11	.	0	0	0	0	0		In_Frame_Del	DEL	ENST00000307745.7	37																																																																																				.		0.69	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				-	79410881	GAG	-	79410879	7	5	59	1	0	1	0	1	0	0	0	0	1297	1291	45	0	2113	0	BAHCC1	17	79410879	In_Frame_Del	DEL	GAG	TCGA-P6-A5OH-01A-11D-A30A-10	2489744	79410879	1784331	217	12187											
FASN	2194	hgsc.bcm.edu	37	chr17	80043739	80043739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaggtgaccgtggccAgccagcacctgtagggggtg	16	10	0	1	rs2229422	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:80043739A>G	ENST00000306749.2	-	23	3959	c.3741T>C	c.(3739-3741)gcT>gcC	p.A1247A	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1247					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GACCGTGGCCAGCCAGCACCT	0.662													.|||	1182	0.236022	0.1997	0.2032	5008	,	,		16566	0.2877		0.3121	False		,,,				2504	0.1769				p.A1247A	Colon(59;314 1043 11189 28578 32273)	.											.	FASN-90	0			c.T3741C						.	A		966,3322		118,730,1296	9	9	9		3741	-6.6	0.1	17	dbSNP_98	9	2628,5830		429,1770,2030	no	coding-synonymous	FASN	NM_004104.4		547,2500,3326	GG,GA,AA		31.0712,22.528,28.1971		1247/2512	80043739	3594,9152	2144	4229	6373	SO:0001819	synonymous_variant	2194	exon23			GTGGCCAGCCAGC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3741T>C	17.37:g.80043739A>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_004104	0	0	0	0	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																			T|0.697;G|0.014;C|0.242;A|0.047		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		G	80043739	A	G	80043739	2	3	59	1	0	0	0	0	0	0	0	1	5705	175	7	4		4	FASN	17	80043739	Silent	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	632860	80043739	1151471	218	12188											
CSNK1D	1453	broad.mit.edu;ucsc.edu	37	chr17	80206823	80206823	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatgttgacgggggccccGcggtgcagccgcatactcac	15	13	1	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr17:80206823G>T	ENST00000314028.6	-	8	1474	c.1125C>A	c.(1123-1125)cgC>cgA	p.R375R	CSNK1D_ENST00000392334.2_Silent_p.R375R|CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Silent_p.R375R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	375					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGGGGGCCCCGCGGTGCAGCC	0.662																																					p.R375R		.											.	CSNK1D-909	0			c.C1125A						.						49	44	45					17																	80206823		2200	4298	6498	SO:0001819	synonymous_variant	1453	exon8			GGCCCCGCGGTGC		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1125C>A	17.37:g.80206823G>T		Somatic	69	1		WXS	Illumina GAIIx	Phase_I	98	13	NM_001893	0	0	0	0	0	A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	CCDS11805.1																																																																																			.		0.662	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		T	80206823	G	T	80206823	2	4	59	1	0	0	0	0	0	0	0	1	3961	1074	38	2		2	CSNK1D	17	80206823	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	163084	80206823	988387	219	12189											
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	14763720	14763720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacacctgatgaggctgcaCccttggcggaaagaacacct	11	12	0	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:14763720C>A	ENST00000358984.4	+	7	1036	c.856C>A	c.(856-858)Ccc>Acc	p.P286T	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P286T|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	286								p.P286S(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAGGCTGCACCCTTGGCGGA	0.478																																					p.P286T		.											.	ANKRD30B-24	1	Substitution - Missense(1)	NS(1)	c.C856A						.						29	29	29					18																	14763720		692	1591	2283	SO:0001583	missense	374860	exon7			GCTGCACCCTTGG	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.856C>A	18.37:g.14763720C>A	ENSP00000351875:p.Pro286Thr	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	55	11	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	7.635	0.679660	0.14907	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32272	1.51;1.46	0.235	0.235	0.15431	.	.	.	.	.	T	0.14570	0.0352	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.17776	-1.0358	8	0.16420	T	0.52	.	.	.	.	.	286	F8WAG3	.	T	286	ENSP00000351875:P286T;ENSP00000399031:P286T	ENSP00000351875:P286T	P	+	1	0	ANKRD30B	14753720	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	0.260000	0.18424	0.308000	0.22923	0.313000	0.20887	CCC	.		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14763720	C	A	14763720	3	1	59	1	0	0	0	0	1	0	0	0	659	507	18	3	882	3	ANKRD30B	18	14763720	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		14763720	63313528	220	12190											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	31323513	31323513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgctttttaataaaaAttctgtccctgtatctgttt	5	9	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:31323513A>T	ENST00000269197.5	+	12	3701	c.3701A>T	c.(3700-3702)aAt>aTt	p.N1234I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1234	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTTAATAAAAATTCTGTCCCT	0.368																																					p.N1234I		.											.	ASXL3-49	0			c.A3701T						.						80	72	75					18																	31323513		1833	4082	5915	SO:0001583	missense	80816	exon12			ATAAAAATTCTGT	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.3701A>T	18.37:g.31323513A>T	ENSP00000269197:p.Asn1234Ile	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	37	15	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990495	0.54041	.	.	ENSG00000141431	ENST00000269197	T	0.52295	0.67	5.68	4.52	0.55395	.	1.356650	0.04419	N	0.367278	T	0.53610	0.1807	L	0.32530	0.975	0.36295	D	0.856635	D	0.57899	0.981	P	0.55161	0.77	T	0.23476	-1.0187	10	0.41790	T	0.15	.	9.2789	0.37716	0.8439:0.0:0.1561:0.0	.	1234	Q9C0F0	ASXL3_HUMAN	I	1234	ENSP00000269197:N1234I	ENSP00000269197:N1234I	N	+	2	0	ASXL3	29577511	0.992000	0.36948	0.984000	0.44739	0.990000	0.78478	1.230000	0.32612	0.991000	0.38814	0.533000	0.62120	AAT	.		0.368	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31323513	A	T	31323513	3	4	59	1	0	0	0	0	1	0	0	0	1069	101	4	5	3747	5	ASXL3	18	31323513	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	16559793	31323513	46753735	221	12191											
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	42531586	42531586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccggatgttccagccGtgccttccaactttcagtca	9	15	2	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:42531586G>A	ENST00000282030.5	+	4	2577	c.2281G>A	c.(2281-2283)Gtg>Atg	p.V761M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	761						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGTTCCAGCCGTGCCTTCCAA	0.577									Schinzel-Giedion syndrome																												p.V761M		.											.	SETBP1-155	0			c.G2281A						.						52	55	54					18																	42531586		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	CCAGCCGTGCCTT	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2281G>A	18.37:g.42531586G>A	ENSP00000282030:p.Val761Met	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	152	27	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680010	0.68042	.	.	ENSG00000152217	ENST00000282030	D	0.90197	-2.63	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	L	0.50333	1.59	0.49299	D	0.999777	D	0.89917	1.0	D	0.83275	0.996	D	0.93932	0.7215	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	761	Q9Y6X0	SETBP_HUMAN	M	761	ENSP00000282030:V761M	ENSP00000282030:V761M	V	+	1	0	SETBP1	40785584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.941000	0.99782	0.655000	0.94253	GTG	.		0.577	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42531586	G	A	42531586	3	1	59	1	0	0	0	0	1	0	0	0	14174	1145	40	1	2484	1	SETBP1	18	42531586	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	11208073	42531586	35545662	222	12192											
SERPINB10	5273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr18	61587036	61587036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaaatatttagaagaCatgaaaacatattttggtgc	7	4	1	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:61587036C>T	ENST00000238508.3	+	5	446	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	129					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATTTAGAAGACATGAAAACAT	0.338																																					p.D129D		.											.	SERPINB10-227	0			c.C387T						.						67	82	77					18																	61587036		2203	4299	6502	SO:0001819	synonymous_variant	5273	exon4			AGAAGACATGAAA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.387C>T	18.37:g.61587036C>T		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	48	7	NM_005024	0	0	0	0	0	Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	CCDS11990.1																																																																																			.		0.338	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		T	61587036	C	T	61587036	2	4	59	1	0	0	0	0	0	0	0	1	14142	477	17	3		3	SERPINB10	18	61587036	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	19055450	61587036	16490212	223	12193											
CDH7	1005	broad.mit.edu	37	chr18	63547655	63547655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgatcctccttatcgTcactatgagaagacggaaaa	9	8	1	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:63547655T>C	ENST00000397968.2	+	12	2309	c.1883T>C	c.(1882-1884)gTc>gCc	p.V628A	CDH7_ENST00000323011.3_Missense_Mutation_p.V628A	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	628					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)				CTCCTTATCGTCACTATGAGA	0.443																																					p.V628A		.											.	CDH7-94	0			c.T1883C						.						53	54	54					18																	63547655		2203	4300	6503	SO:0001583	missense	1005	exon12			TTATCGTCACTAT	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.1883T>C	18.37:g.63547655T>C	ENSP00000381058:p.Val628Ala	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	55	3	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	5.013	0.188102	0.09547	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.59638	0.25;0.25	5.71	5.71	0.89125	.	0.354886	0.28301	N	0.015842	T	0.48607	0.1509	L	0.38953	1.18	0.54753	D	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	10	0.23302	T	0.38	.	15.9883	0.80179	0.0:0.0:0.0:1.0	.	628	Q9ULB5	CADH7_HUMAN	A	628	ENSP00000319166:V628A;ENSP00000381058:V628A	ENSP00000319166:V628A	V	+	2	0	CDH7	61698635	1.000000	0.71417	0.993000	0.49108	0.243000	0.25628	5.955000	0.70306	2.172000	0.68678	0.533000	0.62120	GTC	.		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		C	63547655	T	C	63547655	3	2	59	1	0	0	0	0	1	0	0	0	3122	1667	58	4	1925	4	CDH7	18	63547655	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	1960619	63547655	14529593	224	12194											
CBLN2	147381	hgsc.bcm.edu	37	chr18	70209321	70209321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggatccgcagccgccCggctcgcgcagcgccccccg	14	20	0	0	rs7237888	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5	7	6		75	-0.8	1	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		A	70209321	C	A	70209321	2	1	59	1	0	0	0	0	0	0	0	1	2712	639	23	2		2	CBLN2	18	70209321	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	6661666	70209321	7867927	225	12195											
C19orf21	126353	bcgsc.ca	37	chr19	756985	756985	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccccatcctgggcatcccTcaggcacaccgtggcaccgg	10	18	1	0	rs8110536	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:756985T>G	ENST00000215582.6	+	2	142	c.39T>G	c.(37-39)ccT>ccG	p.P13P		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	13					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGGGCATCCCTCAGGCACACC	0.652													G|||	940	0.1877	0.09	0.2291	5008	,	,		20137	0.3552		0.163	False		,,,				2504	0.1431				p.P13P		.											.	C19orf21-91	0			c.T39G						.	G		440,3962		21,398,1782	27	24	25		39	-8.5	0	19	dbSNP_116	25	1315,7279		95,1125,3077	no	coding-synonymous	C19orf21	NM_173481.2		116,1523,4859	GG,GT,TT		15.3014,9.9955,13.5042		13/680	756985	1755,11241	2201	4297	6498	SO:0001819	synonymous_variant	126353	exon2			CATCCCTCAGGCA	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.39T>G	19.37:g.756985T>G		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	337	10	NM_173481	0	0	0	0	0		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			T|0.840;G|0.160		0.652	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		G	756985	T	G	756985	2	3	59	1	0	0	0	0	0	0	0	1	1920	1538	54	5		5	C19orf21	19	756985	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10		756985	58371998	226	12196											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929678	929678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgaggacagagagcccgaGagtgcccggatgcagcgggc	18	11	0	2	rs3826948	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3	4	3		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	6	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	929678	G	A	929678	2	1	59	1	0	0	0	0	0	0	0	1	916	933	33	3		3	ARID3A	19	929678	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	172693	929678	58199305	227	12197											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1065044	1065044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgaggcacatggaggCcgcctgcgcttccagctgcc	14	16	0	0	rs4147935	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000313093.2_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	2053					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)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5	6	6		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	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.6159C>T	19.37:g.1065044C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	27	19	NM_019112	0	0	0	0	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1065044	C	T	1065044	2	4	59	1	0	0	0	0	0	0	0	1	37	726	26	3		3	ABCA7	19	1065044	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	135366	1065044	58063939	228	12198											
CREB3L3	84699	broad.mit.edu	37	chr19	4168347	4168347	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccatttcacttggcaGtacgaggagcgagtgctgaa	11	12	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:4168347G>A	ENST00000078445.2	+	6	861		c.e6-1		CREB3L3_ENST00000595923.1_Splice_Site|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Splice_Site|CREB3L3_ENST00000252587.3_Splice_Site	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACTTGGCAGTACGAGGAGC	0.552																																					.		.											.	CREB3L3-92	0			c.712-1G>A						.						48	49	49					19																	4168347		2203	4300	6503	SO:0001630	splice_region_variant	84699	exon6			TTGGCAGTACGAG		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.715-1G>A	19.37:g.4168347G>A		Somatic	46	2		WXS	Illumina GAIIx	Phase_I	66	25	NM_001271995	0	0	0	0	0	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Splice_Site	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290981	0.59976	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CREB3L3	4119347	1.000000	0.71417	0.911000	0.35937	0.524000	0.34500	8.943000	0.92975	2.507000	0.84556	0.655000	0.94253	.	.		0.552	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	Intron	A	4168347	G	A	4168347	5	1	59	1	0	0	0	0	0	0	1	0	3865	1043	36	3	736	3	CREB3L3	19	4168347	Splice_Site	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	3103303	4168347	54960636	229	12199											
KDM4B	23030	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	5041154	5041154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgttcaccaggtactgTaccccgcggcaccaggactt	10	13	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:5041154T>C	ENST00000159111.4	+	5	542	c.324T>C	c.(322-324)tgT>tgC	p.C108C	KDM4B_ENST00000536461.1_Silent_p.C108C|KDM4B_ENST00000381759.4_Silent_p.C108C	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	108					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						CCAGGTACTGTACCCCGCGGC	0.577																																					p.C108C		.											.	KDM4B-226	0			c.T324C						.						107	95	99					19																	5041154		2203	4300	6503	SO:0001819	synonymous_variant	23030	exon5			GTACTGTACCCCG	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.324T>C	19.37:g.5041154T>C		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	140	12	NM_015015	0	0	0	0	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																			.		0.577	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		C	5041154	T	C	5041154	2	2	59	1	0	0	0	0	0	0	0	1	8156	1644	57	4		4	KDM4B	19	5041154	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	872807	5041154	54087829	230	12200											
C3	718	broad.mit.edu;bcgsc.ca	37	chr19	6684638	6684638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagttgatctttggcCttagcatggtacattgtcac	11	8	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:6684638C>T	ENST00000245907.6	-	32	4145	c.4053G>A	c.(4051-4053)aaG>aaA	p.K1351K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1351					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)	GATCTTTGGCCTTAGCATGGT	0.488																																					p.K1351K		.											.	C3-95	0			c.G4053A						.						245	211	223					19																	6684638		2203	4300	6503	SO:0001819	synonymous_variant	718	exon32			TTTGGCCTTAGCA	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.4053G>A	19.37:g.6684638C>T		Somatic	140	1		WXS	Illumina GAIIx	Phase_I	180	11	NM_000064	0	0	0	0	0	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																			.		0.488	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6684638	C	T	6684638	2	4	59	1	0	0	0	0	0	0	0	1	2211	680	24	3		3	C3	19	6684638	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1643484	6684638	52444345	231	12201											
KEAP1	9817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	10600462	10600462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgattgaggacagccaCgcccaccccgatccttcgtg	11	15	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:10600462C>T	ENST00000171111.5	-	4	1940	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V465M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	465					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)	AGGACAGCCACGCCCACCCCG	0.572																																					p.V465M		.											.	KEAP1-637	0			c.G1393A						.						67	55	59					19																	10600462		2203	4300	6503	SO:0001583	missense	9817	exon4			CAGCCACGCCCAC	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.1393G>A	19.37:g.10600462C>T	ENSP00000171111:p.Val465Met	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	264	27	NM_012289	0	0	0	0	0	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769885	0.90020	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.79033	-1.23;-1.23	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88687	0.3206	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	465	Q14145	KEAP1_HUMAN	M	465	ENSP00000171111:V465M;ENSP00000377245:V465M	ENSP00000171111:V465M	V	-	1	0	KEAP1	10461462	1.000000	0.71417	0.976000	0.42696	0.758000	0.43043	5.775000	0.68915	2.752000	0.94435	0.558000	0.71614	GTG	.		0.572	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		T	10600462	C	T	10600462	3	4	59	1	0	0	0	0	1	0	0	0	8168	536	19	1	493	1	KEAP1	19	10600462	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	3915824	10600462	48528521	232	12202											
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	11097013	11097013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggcagcagaaccggggCccaaccccatttaaccagaa	11	13	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:11097013C>T	ENST00000429416.3	+	5	785	c.504C>T	c.(502-504)ggC>ggT	p.G168G	SMARCA4_ENST00000541122.2_Silent_p.G168G|SMARCA4_ENST00000589677.1_Silent_p.G168G|SMARCA4_ENST00000450717.3_Silent_p.G168G|SMARCA4_ENST00000444061.3_Silent_p.G168G|SMARCA4_ENST00000413806.3_Silent_p.G168G|SMARCA4_ENST00000358026.2_Silent_p.G168G|SMARCA4_ENST00000344626.4_Silent_p.G168G|SMARCA4_ENST00000590574.1_Silent_p.G168G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	168	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAACCGGGGCCCAACCCCAT	0.667			"F, N, Mis"		NSCLC																																p.G168G		.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.C504T						.						26	22	23					19																	11097013		2201	4299	6500	SO:0001819	synonymous_variant	6597	exon4			CCGGGGCCCAACC	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.504C>T	19.37:g.11097013C>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	136	17	NM_003072	0	0	0	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																			.		0.667	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11097013	C	T	11097013	2	4	59	1	0	0	0	0	0	0	0	1	14815	726	26	3		3	SMARCA4	19	11097013	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	496551	11097013	48031970	233	12203											
NOTCH3	4854	ucsc.edu	37	chr19	15284881	15284881	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtggggtcactcacccGatcacctcgggggccagctc	13	16	3	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:15284881G>A	ENST00000263388.2	-	25	4809	c.4734C>T	c.(4732-4734)atC>atT	p.I1578I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1578					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)			TCACTCACCCGATCACCTCGG	0.627																																					p.I1578I		.											.	NOTCH3-855	0			c.C4734T						.						17	24	22					19																	15284881		2173	4260	6433	SO:0001819	synonymous_variant	4854	exon25			TCACCCGATCACC	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.4734C>T	19.37:g.15284881G>A		Somatic	21	1		WXS	Illumina GAIIx	Phase_I	111	19	NM_000435	0	0	0	0	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																			.		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15284881	G	A	15284881	2	1	59	1	0	0	0	0	0	0	0	1	10589	1048	37	1		1	NOTCH3	19	15284881	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	4187868	15284881	43844102	234	12204											
CRTC1	23373	broad.mit.edu	37	chr19	18856713	18856714	+	Frame_Shift_Ins	INS	-	-	G													acagggtgtaccgggagcgtINSggccggctcggctccccaca							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:18856713_18856714insG	ENST00000321949.8	+	3	350_351	c.324_325insG	c.(325-327)ggcfs	p.G109fs	CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.G34fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.G68fs|CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.G125fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCGGGAGCGTGGCCGGCTCGG	0.678																																					p.R124fs		.											.	CRTC1-1361	0			c.372_373insG						.																																			SO:0001589	frameshift_variant	23373	exon4			GGAGCGTGGCCGG	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.326dupG	19.37:g.18856715_18856715dupG	ENSP00000323332:p.Gly109fs	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	351	10	NM_001098482	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000321949.8	37	CCDS32963.1																																																																																			.		0.678	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		G	18856714	-	G	18856713	7	5	59	1	0	1	1	0	0	0	0	0	3906	1683	59	0	386	0	CRTC1	19	18856713	Frame_Shift_Ins	INS	-	TCGA-P6-A5OH-01A-11D-A30A-10	3571832	18856713	40272270	235	12205											
NCAN	1463	broad.mit.edu	37	chr19	19339014	19339014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaccaccttgagccctcAggtggccctggatacaagca	10	14	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:19339014A>C	ENST00000252575.6	+	8	2684	c.2585A>C	c.(2584-2586)cAg>cCg	p.Q862P	NCAN_ENST00000538881.1_Missense_Mutation_p.Q313P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	862					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTGAGCCCTCAGGTGGCCCTG	0.582																																					p.Q862P		.											.	NCAN-94	0			c.A2585C						.						82	84	84					19																	19339014		2203	4300	6503	SO:0001583	missense	1463	exon8			GCCCTCAGGTGGC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2585A>C	19.37:g.19339014A>C	ENSP00000252575:p.Gln862Pro	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	105	3	NM_004386	0	0	0	0	0	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	5.643	0.303284	0.10678	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84944	-1.79;-1.92	3.47	-6.95	0.01628	.	1.618630	0.04150	N	0.321063	T	0.71091	0.3299	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55976	-0.8055	10	0.42905	T	0.14	.	2.5614	0.04772	0.1569:0.4634:0.1748:0.2048	.	876;862	Q4LE67;O14594	.;NCAN_HUMAN	P	876;862;313	ENSP00000252575:Q862P;ENSP00000442202:Q313P	ENSP00000252575:Q862P	Q	+	2	0	NCAN	19200014	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-2.364000	0.01080	-2.597000	0.00453	-0.512000	0.04463	CAG	.		0.582	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		C	19339014	A	C	19339014	3	2	59	1	0	0	0	0	1	0	0	0	10243	188	7	5	2611	5	NCAN	19	19339014	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	482301	19339014	39789969	236	12206											
TSHZ3	57616	ucsc.edu;bcgsc.ca	37	chr19	31770605	31770605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgccgtatgctcctctgGgtctaaaccttcgtccacca	7	15	3	0	rs200205002	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:31770605G>A	ENST00000240587.4	-	2	421	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	32					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTCCTCTGGGTCTAAACCT	0.582													G|||	3	0.000599042	0	0	5008	,	,		15712	0.003		0	False		,,,				2504	0				p.P32S		.											.	TSHZ3-232	0			c.C94T						.						55	56	56					19																	31770605		1964	4161	6125	SO:0001583	missense	57616	exon2			CCTCTGGGTCTAA	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.94C>T	19.37:g.31770605G>A	ENSP00000240587:p.Pro32Ser	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	39	5	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	0.017	-1.505918	0.00992	.	.	ENSG00000121297	ENST00000240587	T	0.10668	2.85	5.92	2.55	0.30701	.	0.481200	0.19635	U	0.109590	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.31280	-0.9949	10	0.30078	T	0.28	-3.5459	15.369	0.74548	0.0:0.3875:0.5142:0.0983	.	32	Q63HK5	TSH3_HUMAN	S	32	ENSP00000240587:P32S	ENSP00000240587:P32S	P	-	1	0	TSHZ3	36462445	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	2.151000	0.42263	0.098000	0.17522	-0.810000	0.03169	CCA	G|0.999;A|0.001		0.582	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31770605	G	A	31770605	3	1	59	1	0	0	0	0	1	0	0	0	16673	1232	43	3	3155	3	TSHZ3	19	31770605	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	12431591	31770605	27358378	237	12207											
GPATCH1	55094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	33579080	33579080	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccctcttcaggatcagacTgtcagagatgaaaaaggaag	10	8	4	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:33579080T>A	ENST00000170564.2	+	2	428	c.114T>A	c.(112-114)acT>acA	p.T38T		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	38					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)					AGGATCAGACTGTCAGAGATG	0.373																																					p.T38T	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.T114A						.						81	79	80					19																	33579080		2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			TCAGACTGTCAGA	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.114T>A	19.37:g.33579080T>A		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	45	11	NM_018025	0	0	0	0	0	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			.		0.373	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		A	33579080	T	A	33579080	2	1	59	1	0	0	0	0	0	0	0	1	6616	1567	55	5		5	GPATCH1	19	33579080	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	1808475	33579080	25549903	238	12208											
ETV2	2116	broad.mit.edu	37	chr19	36135558	36135558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctctgtcctaggtggCtcggctgtggggcgagcgca	18	12	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:36135558C>A	ENST00000403402.1	+	6	1139	c.833C>A	c.(832-834)gCt>gAt	p.A278D	ETV2_ENST00000379026.2_Missense_Mutation_p.A306D|ETV2_ENST00000402764.2_Missense_Mutation_p.A278D|ETV2_ENST00000479824.1_Missense_Mutation_p.A185D|ETV2_ENST00000379023.4_Missense_Mutation_p.A91D			O00321	ETV2_HUMAN	ets variant 2	278					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTAGGTGGCTCGGCTGTGG	0.677																																					p.A278D		.											.	ETV2-226	0			c.C833A						.						17	18	18					19																	36135558		2195	4278	6473	SO:0001583	missense	2116	exon7			AGGTGGCTCGGCT	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.833C>A	19.37:g.36135558C>A	ENSP00000385369:p.Ala278Asp	Somatic	48	1		WXS	Illumina GAIIx	Phase_I	154	10	NM_014209	0	0	0	0	0	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946747	0.92593	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.302462	0.25135	N	0.032880	T	0.68970	0.3059	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.97110	1.0;0.964;1.0;0.964	T	0.78275	-0.2267	10	0.87932	D	0	.	14.7549	0.69557	0.0:1.0:0.0:0.0	.	91;277;306;278	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	D	306;278;91;278	ENSP00000368312:A306D;ENSP00000384524:A278D;ENSP00000368309:A91D;ENSP00000385369:A278D	ENSP00000368309:A91D	A	+	2	0	ETV2	40827398	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.210000	0.77924	2.335000	0.79485	0.505000	0.49811	GCT	.		0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		A	36135558	C	A	36135558	3	1	59	1	0	0	0	0	1	0	0	0	5294	797	28	3	855	3	ETV2	19	36135558	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2556478	36135558	22993425	239	12209											
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38573068	38573068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcccggaagaaacctgCgcggggcctcggcggcgggg	20	12	0	1	rs150674546	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38573068C>T	ENST00000222345.6	+	3	1372	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	288					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)			AAGAAACCTGCGCGGGGCCTC	0.697													C|||	36	0.0071885	0	0.0202	5008	,	,		13770	0		0.0189	False		,,,				2504	0.0031				p.A288V		.											.	SIPA1L3-91	0			c.C863T						.	C	VAL/ALA	3,3473		0,3,1735	6	8	7		863	-10.8	0	19	dbSNP_134	7	80,7014		0,80,3467	yes	missense	SIPA1L3	NM_015073.1	64	0,83,5202	TT,TC,CC		1.1277,0.0863,0.7852	benign	288/1782	38573068	83,10487	1738	3547	5285	SO:0001583	missense	23094	exon3			AACCTGCGCGGGG	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.863C>T	19.37:g.38573068C>T	ENSP00000222345:p.Ala288Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	27	15	NM_015073	0	0	0	0	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	23	0.010531135531135532	0	0.0	9	0.024861878453038673	0	0.0	14	0.018469656992084433	C	4.163	0.028743	0.08054	8.63E-4	0.011277	ENSG00000105738	ENST00000222345	T	0.75154	-0.91	5.38	-10.8	0.00216	.	0.837572	0.10759	N	0.637472	T	0.29389	0.0732	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42616	-0.9441	10	0.02654	T	1	-0.5382	13.7085	0.62654	0.0:0.5756:0.0903:0.3341	.	288	O60292	SI1L3_HUMAN	V	288	ENSP00000222345:A288V	ENSP00000222345:A288V	A	+	2	0	SIPA1L3	43264908	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	-1.097000	0.03349	-2.556000	0.00476	-1.350000	0.01237	GCG	C|0.989;T|0.011		0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38573068	C	T	38573068	3	4	59	1	0	0	0	0	1	0	0	0	14376	768	27	1	865	1	SIPA1L3	19	38573068	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	2437510	38573068	20555915	240	12210											
GGN	199720	hgsc.bcm.edu	37	chr19	38876464	38876464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcagagcaggggctgCggtgggagccagggctgact	22	8	0	2	rs11083455	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38876464C>G	ENST00000334928.6	-	3	1570	c.1438G>C	c.(1438-1440)Gca>Cca	p.A480P	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	480	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gcaggggctgcggtgggagcc	0.756													G|||	1149	0.229433	0.1437	0.2522	5008	,	,		9781	0.4514		0.1074	False		,,,				2504	0.226				p.A480P		.											.	GGN-90	0			c.G1438C						.	G	PRO/ALA	210,3338		0,210,1564	3	4	3		1438	2.6	0	19	dbSNP_120	3	369,6773		3,363,3205	no	missense	GGN	NM_152657.3	27	3,573,4769	GG,GC,CC		5.1666,5.9188,5.4163	benign	480/653	38876464	579,10111	1774	3571	5345	SO:0001583	missense	199720	exon3			GGGCTGCGGTGGG	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1438G>C	19.37:g.38876464C>G	ENSP00000334940:p.Ala480Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	6	NM_152657	0	0	0	0	0	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	461	0.21108058608058608	72	0.14634146341463414	65	0.17955801104972377	262	0.458041958041958	62	0.08179419525065963	G	1.972	-0.436347	0.04636	0.059188	0.051666	ENSG00000179168	ENST00000334928	.	.	.	3.69	2.63	0.31362	.	0.580033	0.13105	N	0.413421	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47649	-0.9101	8	0.09843	T	0.71	0.5499	9.8256	0.40910	0.0:0.4094:0.5906:0.0	rs11083455;rs60130214	397;480	Q86UU5-2;Q86UU5	.;GGN_HUMAN	P	480	.	ENSP00000334940:A480P	A	-	1	0	GGN	43568304	0.365000	0.25006	0.001000	0.08648	0.091000	0.18340	0.603000	0.24149	0.245000	0.21373	-0.371000	0.07208	GCA	C|0.789;G|0.211		0.756	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		G	38876464	C	G	38876464	3	3	59	1	0	0	0	0	1	0	0	0	6384	768	27	2	528	2	GGN	19	38876464	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	303396	38876464	20252519	241	12211											
FAM98C	147965	hgsc.bcm.edu	37	chr19	38894307	38894307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcgcggctgcgcttcggGaacccggtgccggactgcgc	17	14	0	0	rs150024474	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:38894307G>A	ENST00000252530.5	+	3	341	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.E108K|FAM98C_ENST00000588262.1_Missense_Mutation_p.E108K	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	108										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCGCTTCGGGAACCCGGTGC	0.701													G|||	163	0.0325479	0.0567	0.0187	5008	,	,		8213	0		0.0378	False		,,,				2504	0.0378				p.E108K		.											.	FAM98C-91	0			c.G322A						.	G	LYS/GLU	88,3112		0,88,1512	3	4	4		322	0.3	0.6	19	dbSNP_134	4	135,6981		0,135,3423	yes	missense	FAM98C	NM_174905.3	56	0,223,4935	AA,AG,GG		1.8971,2.75,2.1617	benign	108/350	38894307	223,10093	1600	3558	5158	SO:0001583	missense	147965	exon3			CTTCGGGAACCCG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.322G>A	19.37:g.38894307G>A	ENSP00000252530:p.Glu108Lys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	12	9	NM_174905	0	0	0	0	0	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	70	0.03205128205128205	34	0.06910569105691057	6	0.016574585635359115	0	0.0	30	0.0395778364116095	g	0.538	-0.854682	0.02630	0.0275	0.018971	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.40476	1.03;1.03	3.77	0.289	0.15723	.	0.714837	0.11500	U	0.557841	T	0.01523	0.0049	N	0.17872	0.535	0.09310	N	1	B;B	0.17268	0.021;0.006	B;B	0.15484	0.013;0.007	T	0.15150	-1.0447	10	0.16896	T	0.51	-13.154	3.9581	0.09399	0.3104:0.1826:0.507:0.0	.	108;108	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	K	108	ENSP00000252530:E108K;ENSP00000340348:E108K	ENSP00000252530:E108K	E	+	1	0	FAM98C	43586147	0.000000	0.05858	0.571000	0.28486	0.022000	0.10575	-0.097000	0.11042	0.297000	0.22615	-0.393000	0.06486	GAA	G|0.968;A|0.032		0.701	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		A	38894307	G	A	38894307	3	1	59	1	0	0	0	0	1	0	0	0	5680	1175	41	3	332	3	FAM98C	19	38894307	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	17843	38894307	20234676	242	12212											
MAP3K10	4294	hgsc.bcm.edu	37	chr19	40720079	40720079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggcggacgccatcggaCggggcgctggggcagcgggg	21	13	0	0	rs3746005	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:40720079C>T	ENST00000253055.3	+	9	2781	c.2493C>T	c.(2491-2493)gaC>gaT	p.D831D		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	831					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCATCGGACGGGGCGCTGG	0.716													C|||	3754	0.749601	0.7753	0.7392	5008	,	,		8943	0.6974		0.7485	False		,,,				2504	0.7771				p.D831D		.											.	MAP3K10-981	0			c.C2493T						.	C		2775,495		1188,399,48	2	3	3		2493	-3.8	0.9	19	dbSNP_107	3	5211,1383		2065,1081,151	no	coding-synonymous	MAP3K10	NM_002446.3		3253,1480,199	TT,TC,CC		20.9736,15.1376,19.0389		831/955	40720079	7986,1878	1635	3297	4932	SO:0001819	synonymous_variant	4294	exon9			ATCGGACGGGGCG	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2493C>T	19.37:g.40720079C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_002446	0	0	0	0	0	Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	CCDS12549.1																																																																																			C|0.260;T|0.740		0.716	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40720079	C	T	40720079	2	4	59	1	0	0	0	0	0	0	0	1	9282	535	19	1		1	MAP3K10	19	40720079	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1825772	40720079	18408904	243	12213											
CYP2B6	1555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	41509976	41509976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcatgctgtgtggagTagaggccatacgggaggccc	17	9	1	1	rs138912615		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:41509976T>C	ENST00000324071.4	+	2	249	c.242T>C	c.(241-243)gTa>gCa	p.V81A	CYP2B6_ENST00000593831.1_Missense_Mutation_p.V5A|CYP2B6_ENST00000330446.5_Missense_Mutation_p.V41A|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	81					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CTGTGTGGAGTAGAGGCCATA	0.592																																					p.V81A		.											.	CYP2B6-92	0			c.T242C						.	T	ALA/VAL	0,4406		0,0,2203	79	80	80		242	-8.3	0	19	dbSNP_134	80	1,8599		0,1,4299	no	missense	CYP2B6	NM_000767.4	64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	81/492	41509976	1,13005	2203	4300	6503	SO:0001583	missense	1555	exon2			GTGGAGTAGAGGC	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.242T>C	19.37:g.41509976T>C	ENSP00000324648:p.Val81Ala	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	355	46	NM_000767	0	0	0	0	0	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.482372	0.44147	0.0	1.16E-4	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.66638	5.16;-0.22	4.15	-8.3	0.01005	.	0.601481	0.17820	N	0.160889	T	0.31167	0.0788	N	0.03016	-0.435	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.19391	0.004;0.025	T	0.14671	-1.0464	10	0.87932	D	0	.	5.4949	0.16797	0.5622:0.1959:0.0:0.2418	.	41;81	B4DWP3;P20813	.;CP2B6_HUMAN	A	81;41	ENSP00000324648:V81A;ENSP00000330650:V41A	ENSP00000324648:V81A	V	+	2	0	CYP2B6	46201816	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.093000	0.15086	-1.643000	0.01519	-0.460000	0.05396	GTA	T|1.000;C|0.000		0.592	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		C	41509976	T	C	41509976	3	2	59	1	0	0	0	0	1	0	0	0	4173	1638	57	4	248	4	CYP2B6	19	41509976	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	789897	41509976	17619007	244	12214											
CEACAM6	4680	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42270108	42270108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtgctcctgtcctcTcagctgtggccaccgtcggc	12	14	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42270108T>C	ENST00000199764.6	+	5	1194	c.976T>C	c.(976-978)Tca>Cca	p.S326P	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	326					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCCTGTCCTCTCAGCTGTGGC	0.517																																					p.S326P		.											.	CEACAM6-91	0			c.T976C						.						143	124	130					19																	42270108		2203	4300	6503	SO:0001583	missense	4680	exon5			GTCCTCTCAGCTG	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.976T>C	19.37:g.42270108T>C	ENSP00000199764:p.Ser326Pro	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	176	16	NM_002483	0	0	0	0	0	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550350	0.27739	.	.	ENSG00000086548	ENST00000199764	T	0.22336	1.96	1.61	0.467	0.16721	.	.	.	.	.	T	0.31295	0.0792	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.20472	-1.0274	9	0.21014	T	0.42	.	3.6825	0.08316	0.0:0.2221:0.0:0.7779	.	326	P40199	CEAM6_HUMAN	P	326	ENSP00000199764:S326P	ENSP00000199764:S326P	S	+	1	0	CEACAM6	46961948	0.002000	0.14202	0.004000	0.12327	0.008000	0.06430	0.138000	0.16016	0.053000	0.16036	0.377000	0.23210	TCA	.		0.517	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			C	42270108	T	C	42270108	3	2	59	1	0	0	0	0	1	0	0	0	3203	1551	54	4	994	4	CEACAM6	19	42270108	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	760132	42270108	16858875	245	12215											
DMRTC2	63946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	42354402	42354402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcaactctgatactccagCcctgtggcaccccagaccct	6	18	2	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42354402C>G	ENST00000269945.3	+	7	829	c.778C>G	c.(778-780)Ccc>Gcc	p.P260A	DMRTC2_ENST00000596827.1_Missense_Mutation_p.P260A	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	260	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GATACTCCAGCCCTGTGGCAC	0.527																																					p.P260A		.											.	DMRTC2-90	0			c.C778G						.						221	230	227					19																	42354402		2203	4300	6503	SO:0001583	missense	63946	exon7			CTCCAGCCCTGTG	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.778C>G	19.37:g.42354402C>G	ENSP00000269945:p.Pro260Ala	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	127	20	NM_001040283	0	0	0	0	0	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925020	0.34002	.	.	ENSG00000142025	ENST00000269945	T	0.30981	1.51	4.85	1.5	0.22942	.	0.478233	0.18613	N	0.136089	T	0.25044	0.0608	M	0.63843	1.955	0.23174	N	0.998172	P;B	0.37441	0.595;0.088	B;B	0.34931	0.192;0.033	T	0.09862	-1.0655	10	0.33940	T	0.23	-1.8851	5.9172	0.19061	0.0:0.59:0.0:0.41	.	260;260	B4DX56;Q8IXT2	.;DMRTD_HUMAN	A	260	ENSP00000269945:P260A	ENSP00000269945:P260A	P	+	1	0	DMRTC2	47046242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.816000	0.27267	0.432000	0.26286	-0.469000	0.05056	CCC	.		0.527	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		G	42354402	C	G	42354402	3	3	59	1	0	0	0	0	1	0	0	0	4605	739	26	3	800	3	DMRTC2	19	42354402	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	84294	42354402	16774581	246	12216											
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42795782	42795782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgggaaggtcctagTgcctctggccgcccctagca	13	15	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:42795782T>A	ENST00000575354.2	+	11	2811	c.2771T>A	c.(2770-2772)gTg>gAg	p.V924E	CIC_ENST00000160740.3_Missense_Mutation_p.V924E|CIC_ENST00000572681.2_Missense_Mutation_p.V1833E	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	924	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGTCCTAGTGCCTCTGGCC	0.652			"Mis, F, S"		oligodendroglioma																																p.V924E		.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC-591	0			c.T2771A						.						58	69	65					19																	42795782		2166	4255	6421	SO:0001583	missense	23152	exon11			TCCTAGTGCCTCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2771T>A	19.37:g.42795782T>A	ENSP00000458663:p.Val924Glu	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	145	28	NM_015125	0	0	0	0	0	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068654	0.36470	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	T	0.46600	0.1401	L	0.29908	0.895	0.45995	D	0.998806	P	0.51240	0.943	P	0.46758	0.526	T	0.51872	-0.8650	8	0.87932	D	0	-11.5366	12.0538	0.53522	0.0:0.0:0.0:1.0	.	924	Q96RK0	CIC_HUMAN	E	924	.	ENSP00000160740:V924E	V	+	2	0	CIC	47487622	1.000000	0.71417	0.999000	0.59377	0.478000	0.33099	4.801000	0.62532	1.960000	0.56953	0.459000	0.35465	GTG	.		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			A	42795782	T	A	42795782	3	1	59	1	0	0	0	0	1	0	0	0	3431	1696	59	5	2813	5	CIC	19	42795782	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	441380	42795782	16333201	247	12217											
LYPD5	284348	broad.mit.edu	37	chr19	44302693	44302694	+	Frame_Shift_Ins	INS	-	-	CC													cctgccgatagcgcagtcatINScctggtggaccccgatacag							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:44302693_44302694insCC	ENST00000377950.3	-	4	510_511	c.430_431insGG	c.(430-432)gatfs	p.D144fs	LYPD5_ENST00000594013.1_Frame_Shift_Ins_p.D101fs|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Frame_Shift_Ins_p.D101fs	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	144	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				AGCGCAGTCATCCTGGTGGACC	0.634																																					p.D144fs		.											.	LYPD5-90	0			c.431_432insGG						.																																			SO:0001589	frameshift_variant	284348	exon4			CAGTCATCCTGGT	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.429_430dupGG	19.37:g.44302694_44302695dupCC	ENSP00000367185:p.Asp144fs	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	95	11	NM_001031749	0	0	0	0	0	Q6PEX9|Q96DR2	Frame_Shift_Ins	INS	ENST00000377950.3	37	CCDS46096.1																																																																																			.		0.634	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		CC	44302694	-	CC	44302693	7	5	59	1	0	1	1	0	0	0	0	0	9149	1435	50	0	332	0	LYPD5	19	44302693	Frame_Shift_Ins	INS	-	TCGA-P6-A5OH-01A-11D-A30A-10	1506911	44302693	14826290	248	12218											
GRIN2D	2906	hgsc.bcm.edu	37	chr19	48945880	48945880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtacagctgctgcagcgcTgaggccgccccaccgcccgc	12	18	0	1	rs62130268	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:48945880T>C	ENST00000263269.3	+	13	2785	c.2697T>C	c.(2695-2697)gcT>gcC	p.A899A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	899					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)	GCTGCAGCGCTGAGGCCGCCC	0.781													c|||	3742	0.747204	0.6188	0.8545	5008	,	,		4716	0.6548		0.8887	False		,,,				2504	0.7945				p.A899A		.											.	GRIN2D-156	0			c.T2697C						.			1689,437		638,413,12	1	1	1		2697	-3.3	1	19	dbSNP_129	1	3712,202		1757,198,2	no	coding-synonymous	GRIN2D	NM_000836.2		2395,611,14	CC,CT,TT		5.161,20.555,10.5795		899/1337	48945880	5401,639	1063	1957	3020	SO:0001819	synonymous_variant	2906	exon13			CAGCGCTGAGGCC	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.2697T>C	19.37:g.48945880T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_000836	0	0	0	0	0		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																			T|0.245;C|0.755		0.781	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			C	48945880	T	C	48945880	2	2	59	1	0	0	0	0	0	0	0	1	6809	1567	55	4		4	GRIN2D	19	48945880	Silent	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	4643187	48945880	10183103	249	12219											
SCAF1	58506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50157674	50157674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcccaggagctgatcCaggccaccaaccaggtgggc	14	14	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:50157674C>G	ENST00000360565.3	+	8	3509	c.3385C>G	c.(3385-3387)Cag>Gag	p.Q1129E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1129					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGAGCTGATCCAGGCCACCAA	0.617																																					p.Q1129E		.											.	SCAF1-68	0			c.C3385G						.						27	26	26					19																	50157674		2203	4300	6503	SO:0001583	missense	58506	exon8			CTGATCCAGGCCA	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3385C>G	19.37:g.50157674C>G	ENSP00000353769:p.Gln1129Glu	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	196	37	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551764	0.45487	.	.	ENSG00000126461	ENST00000360565	T	0.38077	1.16	5.1	5.1	0.69264	.	0.000000	0.43416	D	0.000573	T	0.45478	0.1344	L	0.27053	0.805	0.53005	D	0.999961	D	0.67145	0.996	D	0.76071	0.987	T	0.14755	-1.0461	10	0.15066	T	0.55	-32.5772	17.4355	0.87550	0.0:1.0:0.0:0.0	.	1129	Q9H7N4	SFR19_HUMAN	E	1129	ENSP00000353769:Q1129E	ENSP00000353769:Q1129E	Q	+	1	0	SCAF1	54849486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.235000	0.72332	2.651000	0.90000	0.651000	0.88453	CAG	.		0.617	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		G	50157674	C	G	50157674	3	3	59	1	0	0	0	0	1	0	0	0	13913	595	21	3	3411	3	SCAF1	19	50157674	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	1211794	50157674	8971309	250	12220											
MYH14	79784	hgsc.bcm.edu	37	chr19	50713814	50713814	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttcggagcttcacggGttcgaggcggcggcgctgcg	18	12	1	0	rs181055215		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:50713814G>T	ENST00000596571.1	+	1	192	c.192G>T	c.(190-192)ggG>ggT	p.G64G	MYH14_ENST00000598205.1_Silent_p.G64G|MYH14_ENST00000601313.1_Silent_p.G64G|MYH14_ENST00000262269.8_Silent_p.G64G|MYH14_ENST00000425460.1_Silent_p.G64G|MYH14_ENST00000440075.2_Silent_p.G64G|MYH14_ENST00000376970.2_Silent_p.G64G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	64					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTTCACGGGTTCGAGGCGG	0.766																																					p.G64G		.											.	MYH14-23	0			c.G192T						.	G	,,	2,3974		0,2,1986	7	11	9		192,192,192	-2.2	1	19		9	21,8149		0,21,4064	no	coding-synonymous,coding-synonymous,coding-synonymous	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	,,	0,23,6050	TT,TG,GG		0.257,0.0503,0.1894	,,	64/2004,64/2037,64/1996	50713814	23,12123	1988	4085	6073	SO:0001819	synonymous_variant	79784	exon2			TCACGGGTTCGAG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.192G>T	19.37:g.50713814G>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	86	52	NM_001077186	0	0	0	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																			.		0.766	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50713814	G	T	50713814	2	4	59	1	0	0	0	0	0	0	0	1	10071	1248	44	3		3	MYH14	19	50713814	Silent	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	556140	50713814	8415169	251	12221											
LILRA4	23547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54849247	54849247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcactgggttccgaccaCacgtatggggtgttgttttc	14	9	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:54849247C>T	ENST00000291759.4	-	4	671	c.615G>A	c.(613-615)gtG>gtA	p.V205V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	205	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCCGACCACACGTATGGGG	0.557																																					p.V205V		.											.	LILRA4-91	0			c.G615A						.						81	70	73					19																	54849247		2203	4300	6503	SO:0001819	synonymous_variant	23547	exon4			CGACCACACGTAT	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.615G>A	19.37:g.54849247C>T		Somatic	65	0		WXS	Illumina GAIIx	Phase_I	102	16	NM_012276	0	0	0	0	0	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																			.		0.557	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		T	54849247	C	T	54849247	2	4	59	1	0	0	0	0	0	0	0	1	8816	465	17	3		3	LILRA4	19	54849247	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	4135433	54849247	4279736	252	12222											
LILRA2	11027	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr19	55098715	55098715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagtggagaatctcatcCgcatgggtgtggctggcttg	14	9	1	1	rs149580797	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:55098715C>T	ENST00000251377.3	+	9	1487	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391738.3_Missense_Mutation_p.R452C|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.R435C|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.R423C			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	452					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAATCTCATCCGCATGGGTGT	0.582													c|||	15	0.00299521	0.0106	0.0014	5008	,	,		20272	0		0	False		,,,				2504	0				p.R452C		.											.	LILRA2-91	0			c.C1354T						.	C	CYS/ARG,CYS/ARG	25,4381	31.7+/-61.6	0,25,2178	124	107	113		1354,1303	1.7	0	19	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	180,180	0,27,6476	TT,TC,CC		0.0233,0.5674,0.2076	,	452/484,435/467	55098715	27,12979	2203	4300	6503	SO:0001583	missense	11027	exon8			CTCATCCGCATGG	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1354C>T	19.37:g.55098715C>T	ENSP00000251377:p.Arg452Cys	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	266	36	NM_001130917	0	0	0	0	0	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	13.34	2.208439	0.39003	0.005674	2.33E-4	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00574	6.5;6.5;6.58;6.47	2.74	1.68	0.24146	.	24.497700	0.00610	U	0.000408	T	0.01695	0.0054	M	0.93106	3.38	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.64144	0.922;0.912;0.742	T	0.30357	-0.9981	10	0.87932	D	0	.	5.3465	0.16012	0.0:0.829:0.0:0.171	.	423;452;435	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	C	452;452;435;423	ENSP00000251377:R452C;ENSP00000375618:R452C;ENSP00000251376:R435C;ENSP00000375617:R423C	ENSP00000251376:R435C	R	+	1	0	LILRA2	59790527	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.318000	0.08050	0.470000	0.27294	0.609000	0.83330	CGC	C|0.996;T|0.004		0.582	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55098715	C	T	55098715	3	4	59	1	0	0	0	0	1	0	0	0	8814	652	23	1	1384	1	LILRA2	19	55098715	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	249468	55098715	4030268	253	12223											
ZNF628	89887	hgsc.bcm.edu	37	chr19	55993260	55993260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccccgccccgggtAccgcctccgcggccccgccc	12	26	0	0	rs34864744	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:55993260A>G	ENST00000598519.1	+	3	1253	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	ZNF628_ENST00000391718.2_Missense_Mutation_p.T230A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	234	Pro-rich.			T -> A (in Ref. 2; AAH89449). {ECO:0000305}.	transcription, DNA-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)		cgccccgggtaccgcctccgc	0.766													N|||	3815	0.761781	0.9387	0.732	5008	,	,		4719	0.4395		0.837	False		,,,				2504	0.7986				p.T234A		.											.	ZNF628-22	0			c.A700G						.						3	4	4					19																	55993260		1771	3509	5280	SO:0001583	missense	89887	exon3			CCGGGTACCGCCT	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.700A>G	19.37:g.55993260A>G	ENSP00000469591:p.Thr234Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	1594	0.7298534798534798	448	0.9105691056910569	272	0.7513812154696132	259	0.4527972027972028	615	0.8113456464379947	.	0.001	-2.964343	0.00049	.	.	ENSG00000197483	ENST00000391718	T	0.08193	3.12	3.0	-0.723	0.11181	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.05852	-1.0860	8	0.25106	T	0.35	0.0335	6.0751	0.19911	0.3452:0.3167:0.3381:0.0	rs34864744	230	Q5EBL2	ZN628_HUMAN	A	230	ENSP00000375598:T230A	ENSP00000375598:T230A	T	+	1	0	ZNF628	60685072	0.324000	0.24652	0.001000	0.08648	0.007000	0.05969	-0.265000	0.08644	-0.261000	0.09405	-2.335000	0.00248	ACC	A|0.270;G|0.730		0.766	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		G	55993260	A	G	55993260	3	3	59	1	0	0	0	0	1	0	0	0	18100	391	14	4	690	4	ZNF628	19	55993260	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	894545	55993260	3135723	254	12224											
SBK2	646643	hgsc.bcm.edu	37	chr19	56041209	56041210	+	Frame_Shift_Ins	INS	-	-	G													gatcacagcgctcctccttcINSgggggtgagggtccagcagc							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:56041209_56041210insG	ENST00000413299.1	-	4	974_975	c.937_938insC	c.(937-939)cgafs	p.R313fs	SBK2_ENST00000344158.3_Frame_Shift_Ins_p.R313fs	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R313Q(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCTCCTTCGGGGGTGAGGG	0.757																																					p.R313fs		.											.	SBK2-68	2	Substitution - Missense(2)	skin(2)	c.938_939insC						.																																			SO:0001589	frameshift_variant	646643	exon4			CTCCTTCGGGGGT		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.938dupC	19.37:g.56041214_56041214dupG	ENSP00000389015:p.Arg313fs	Somatic	8	2		WXS	Illumina GAIIx	Phase_I	58	19	NM_001101401	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000413299.1	37	CCDS42631.1																																																																																			.		0.757	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		G	56041210	-	G	56041209	7	5	59	1	0	1	1	0	0	0	0	0	13906	884	31	0	111	0	SBK2	19	56041209	Frame_Shift_Ins	INS	-	TCGA-P6-A5OH-01A-11D-A30A-10	47949	56041209	3087774	255	12225											
ZNF784	147808	hgsc.bcm.edu	37	chr19	56133551	56133551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccgccgccatcaccacctCcgccctctccggggccaccc	8	25	2	0	rs200843026	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:56133551C>T	ENST00000325351.4	-	2	577	c.538G>A	c.(538-540)Gag>Aag	p.E180K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	180					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)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		atcaccacctccgccctctcc	0.731													C|||	46	0.0091853	0	0.0058	5008	,	,		8698	0.001		0.0109	False		,,,				2504	0.0307				p.E180K		.											.	ZNF784-68	0			c.G538A						.						2	2	2					19																	56133551		1398	2919	4317	SO:0001583	missense	147808	exon2			CCACCTCCGCCCT	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.538G>A	19.37:g.56133551C>T	ENSP00000320096:p.Glu180Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	17	NM_203374	0	0	0	0	0		Missense_Mutation	SNP	ENST00000325351.4	37	CCDS12930.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065757	0.36470	.	.	ENSG00000179922	ENST00000325351	T	0.09350	2.99	3.21	3.21	0.36854	.	0.000000	0.38164	N	0.001782	T	0.05456	0.0144	N	0.24115	0.695	0.80722	D	1	P	0.47409	0.895	B	0.34873	0.191	T	0.47824	-0.9087	10	0.20046	T	0.44	-19.2128	10.1999	0.43077	0.0:1.0:0.0:0.0	.	180	Q8NCA9	ZN784_HUMAN	K	180	ENSP00000320096:E180K	ENSP00000320096:E180K	E	-	1	0	ZNF784	60825363	0.023000	0.18921	0.904000	0.35570	0.344000	0.29017	0.548000	0.23314	2.113000	0.64589	0.462000	0.41574	GAG	.		0.731	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		T	56133551	C	T	56133551	3	4	59	1	0	0	0	0	1	0	0	0	18204	864	30	3	437	3	ZNF784	19	56133551	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	92342	56133551	2995432	256	12226											
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T													cacattctccacattcataaGgtcttttcccagtgtgaact					rs111727691		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		.											.	.	0			c.C968A						.						15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	108	15	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	G|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	59	1	0	0	0	0	1	0	0	0	18224	1000	35	3	1603	3	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	2252239	58385790	743193	257	12227	119	3									
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T													attctccacattcataaggtCttttcccagtgtgaactctc					rs113623532		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		.											.	.	0			c.G965A						.						15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	104	15	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	C|0.500;T|0.500		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	59	1	0	0	0	0	1	0	0	0	18224	913	32	3	1606	3	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	3	58385793	743190	258	12228	119	3									
ZNF814	730051	hgsc.bcm.edu	37	chr19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT													ccacattcataaggtcttttCccagtgtgaactctctgatg							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																					p.G320E		.											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)	c.G959A						.																																			SO:0001583	missense	730051	exon3			CTTTTCCCAGTGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	100	7	NM_001144989	0	0	0	0	0	A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		TT	58385799	CC	TT	58385798	3	4	59	1	0	0	0	0	1	0	0	0	18224	842	30	3	1611	3	ZNF814	19	58385798	Missense_Mutation	DNP	CC	TCGA-P6-A5OH-01A-11D-A30A-10	5	58385798	743185	259	12229	119	3									
PANK2	80025	hgsc.bcm.edu	37	chr20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgctgctgcggatgggagGgggccggctcggcgcgccca	19	13	0	0	rs3737084	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000497424.1_Intron|PANK2_ENST00000610179.1_Missense_Mutation_p.G3A	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2	3	3		,377	4.7	1	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_153638	0	0	0	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3870124	G	C	3870124	3	2	59	1	0	0	0	0	1	0	0	0	11456	1232	43	3	379	3	PANK2	20	3870124	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10		3870124	59155396	260	12230											
ACTR5	79913	hgsc.bcm.edu	37	chr20	37377139	37377139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggcggcgaacgtgttCccgttccgcgacgcccgtgc	14	14	0	1	rs2254105	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3	4	4					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	12	NM_024855	0	0	0	0	0	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		T	37377139	C	T	37377139	2	4	59	1	0	0	0	0	0	0	0	1	215	854	30	3		3	ACTR5	20	37377139	Silent	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	33507015	37377139	25648381	261	12231											
TOP1	7150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	39746844	39746844	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaagatcctttcttatAaccgtgccaatcgagctgtt	8	11	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:39746844A>T	ENST00000361337.2	+	18	2108	c.1858A>T	c.(1858-1860)Aac>Tac	p.N620Y	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	620					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CCTTTCTTATAACCGTGCCAA	0.423			T	NUP98	AML*																																p.N620Y		.		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	TOP1-1148	0			c.A1858T						.						95	78	84					20																	39746844		2203	4300	6503	SO:0001583	missense	7150	exon18			TCTTATAACCGTG		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1858A>T	20.37:g.39746844A>T	ENSP00000354522:p.Asn620Tyr	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	351	47	NM_003286	0	0	0	0	0	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025497	0.93518	.	.	ENSG00000198900	ENST00000361337	T	0.47869	0.83	5.96	5.96	0.96718	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86823	0.2006	10	0.87932	D	0	-32.1899	16.4447	0.83919	1.0:0.0:0.0:0.0	.	620	P11387	TOP1_HUMAN	Y	620	ENSP00000354522:N620Y	ENSP00000354522:N620Y	N	+	1	0	TOP1	39180258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	AAC	.		0.423	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			T	39746844	A	T	39746844	3	4	59	1	0	0	0	0	1	0	0	0	16411	362	13	5	1928	5	TOP1	20	39746844	Missense_Mutation	SNP	A	TCGA-P6-A5OH-01A-11D-A30A-10	2369705	39746844	23278676	262	12232											
PLCG1	5335	ucsc.edu;bcgsc.ca	37	chr20	39794128	39794128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgttctgaccagcagcaaGatctactactctgaggagac	9	10	3	4			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:39794128G>T	ENST00000373271.1	+	15	1953	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	PLCG1_ENST00000244007.3_Missense_Mutation_p.K516N|PLCG1_ENST00000373272.2_Missense_Mutation_p.K516N	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	516	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)				CCAGCAGCAAGATCTACTACT	0.587																																					p.K516N		.											.	PLCG1-911	0			c.G1548T						.						103	85	91					20																	39794128		2203	4300	6503	SO:0001583	missense	5335	exon15			CAGCAAGATCTAC	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.1548G>T	20.37:g.39794128G>T	ENSP00000362368:p.Lys516Asn	Somatic	152	4		WXS	Illumina GAIIx	Phase_I	218	44	NM_182811	0	0	0	0	0	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884851	0.72410	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.66	2.21	0.28008	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.67953	2.075	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.969;0.994	D;P;P	0.66602	0.945;0.677;0.882	T	0.04153	-1.0973	10	0.62326	D	0.03	.	11.551	0.50721	0.2784:0.0:0.7216:0.0	.	516;516;516	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	N	516	ENSP00000244007:K516N;ENSP00000362368:K516N;ENSP00000362369:K516N	ENSP00000244007:K516N	K	+	3	2	PLCG1	39227542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.446000	0.44908	0.759000	0.33084	0.655000	0.94253	AAG	.		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		T	39794128	G	T	39794128	3	4	59	1	0	0	0	0	1	0	0	0	12074	933	33	3	1606	3	PLCG1	20	39794128	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	47284	39794128	23231392	263	12233											
RBPJL	11317	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	43945172	43945172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggagagaacttccacgCggggctcaaggtgtggtttg	15	10	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:43945172C>T	ENST00000343694.3	+	11	1304	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	RBPJL_ENST00000372741.3_Missense_Mutation_p.A411V|RBPJL_ENST00000372743.1_Missense_Mutation_p.A411V|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	411	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AACTTCCACGCGGGGCTCAAG	0.672																																					p.A411V		.											.	RBPJL-227	0			c.C1232T						.						37	38	38					20																	43945172		1966	3749	5715	SO:0001583	missense	11317	exon11			TCCACGCGGGGCT	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1232C>T	20.37:g.43945172C>T	ENSP00000341243:p.Ala411Val	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	397	25	NM_014276	0	0	0	0	0	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953889	0.92660	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.18657	2.2;2.2;2.2	4.55	4.55	0.56014	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.084008	0.48286	D	0.000186	T	0.30885	0.0779	L	0.50333	1.59	0.47308	D	0.999384	D;D	0.67145	0.996;0.992	P;P	0.50490	0.642;0.491	T	0.08432	-1.0722	10	0.87932	D	0	-29.9754	16.8816	0.86064	0.0:1.0:0.0:0.0	.	411;411	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	V	411	ENSP00000361828:A411V;ENSP00000361826:A411V;ENSP00000341243:A411V	ENSP00000341243:A411V	A	+	2	0	RBPJL	43378586	1.000000	0.71417	0.316000	0.25252	0.988000	0.76386	5.819000	0.69243	2.515000	0.84797	0.555000	0.69702	GCG	.		0.672	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		T	43945172	C	T	43945172	3	4	59	1	0	0	0	0	1	0	0	0	13207	768	27	1	1274	1	RBPJL	20	43945172	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	4151044	43945172	19080348	264	12234											
ZSWIM3	140831	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	44505469	44505472	+	Frame_Shift_Del	DEL	TATT	TATT	-													caacgagagactagatagacTatttatcagtgaactaaaca							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TATT	TATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:44505469_44505472delTATT	ENST00000255152.2	+	2	481_484	c.272_275delTATT	c.(271-276)ctatttfs	p.LF91fs	ZSWIM3_ENST00000454862.2_Frame_Shift_Del_p.LF85fs	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	91							zinc ion binding (GO:0008270)	p.L91Q(1)		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)				CTAGATAGACTATTTATCAGTGAA	0.475																																					p.91_92del		.											.	ZSWIM3-92	1	Substitution - Missense(1)	ovary(1)	c.272_275del						.																																			SO:0001589	frameshift_variant	140831	exon2			ATAGACTATTTAT	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.272_275delTATT	20.37:g.44505469_44505472delTATT	ENSP00000255152:p.Leu91fs	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	194	40	NM_080752	0	0	0	0	0	Q9BR13	Frame_Shift_Del	DEL	ENST00000255152.2	37	CCDS13381.1																																																																																			.		0.475	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		-	44505472	TATT	-	44505469	7	5	59	1	0	1	0	1	0	0	0	0	18290	1522	53	0	278	0	ZSWIM3	20	44505469	Frame_Shift_Del	DEL	TATT	TCGA-P6-A5OH-01A-11D-A30A-10	560297	44505469	18520051	265	12235											
TMEM189	387522	hgsc.bcm.edu	37	chr20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggcccggccagtTctcggcgcccgccatggcca	13	18	1	0	rs232733		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D|TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D|TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1	1	1	5008	,	,		6103	1		1	False		,,,				2504	1				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2	2	2					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_199129	0	0	0	0	0		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			C	48770159	T	C	48770159	3	2	59	1	0	0	0	0	1	0	0	0	16158	1783	62	4	820	4	TMEM189	20	48770159	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	4264690	48770159	14255361	266	12236											
RBM11	54033	broad.mit.edu	37	chr21	15592023	15592023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcgtttatatggaagacCaattaacgtgcagtatcgat	8	6	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr21:15592023C>A	ENST00000400577.3	+	2	245	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TATGGAAGACCAATTAACGTG	0.388																																					p.P79Q		.											.	.	0			c.C236A						.						103	93	96					21																	15592023		1568	3582	5150	SO:0001583	missense	54033	exon2			GAAGACCAATTAA	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.236C>A	21.37:g.15592023C>A	ENSP00000383421:p.Pro79Gln	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	194	6	NM_144770	0	0	0	0	0	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897005	0.72639	.	.	ENSG00000185272	ENST00000400577	T	0.16196	2.36	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000013	T	0.22513	0.0543	L	0.28344	0.845	0.50813	D	0.999899	P	0.41420	0.749	P	0.48189	0.57	T	0.01182	-1.1426	10	0.59425	D	0.04	-12.4034	18.9174	0.92512	0.0:1.0:0.0:0.0	.	79	P57052	RBM11_HUMAN	Q	79	ENSP00000383421:P79Q	ENSP00000383421:P79Q	P	+	2	0	RBM11	14513894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.310000	0.59141	2.661000	0.90470	0.655000	0.94253	CCA	.		0.388	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		A	15592023	C	A	15592023	3	1	59	1	0	0	0	0	1	0	0	0	13157	594	21	3	242	3	RBM11	21	15592023	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		15592023	32537872	267	12237											
PI4KA	5297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	21150535	21150535	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgagcagctcatccaCcaggtgctcgtcttggatgt	11	11	3	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:21150535C>G	ENST00000572273.1	-	18	2232	c.2002G>C	c.(2002-2004)Gtg>Ctg	p.V668L	PI4KA_ENST00000255882.6_Missense_Mutation_p.V726L|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	668					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)			AGCTCATCCACCAGGTGCTCG	0.572																																					p.V726L	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.G2176C						.						94	66	75					22																	21150535		2203	4300	6503	SO:0001583	missense	5297	exon18			CATCCACCAGGTG	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.2002G>C	22.37:g.21150535C>G	ENSP00000458238:p.Val668Leu	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	229	64	NM_058004	0	0	0	0	0	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	12.19	1.862855	0.32884	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.068760	0.64402	D	0.000016	T	0.22282	0.0537	N	0.01668	-0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	9	0.11485	T	0.65	-25.6881	11.1783	0.48612	0.0:0.9157:0.0:0.0843	.	668	P42356	PI4KA_HUMAN	L	668	.	ENSP00000255882:V668L	V	-	1	0	PI4KA	19480535	1.000000	0.71417	0.992000	0.48379	0.904000	0.53231	5.883000	0.69721	2.402000	0.81655	0.591000	0.81541	GTG	.		0.572	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		G	21150535	C	G	21150535	3	3	59	1	0	0	0	0	1	0	0	0	11912	507	18	3	4284	3	PI4KA	22	21150535	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		21150535	30154031	268	12238											
PLA2G3	50487	bcgsc.ca	37	chr22	31535872	31535872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctccaactccacaccacaGtgtgccaggcatggtccatc	7	16	1	0	rs2074735	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:31535872G>C	ENST00000215885.3	-	1	721	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	157	Phospholipase A2-like.		L -> V (in dbSNP:rs2074735).		acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCACACCACAGTGTGCCAGGC	0.627													G|||	838	0.167332	0.0053	0.1239	5008	,	,		16719	0.38		0.0805	False		,,,				2504	0.2873				p.L157V		.											.	PLA2G3-226	0			c.C469G						.	G	VAL/LEU	104,4302	82.4+/-120.9	1,102,2100	100	88	92		469	4.2	1	22	dbSNP_96	92	628,7972	162.6+/-215.3	21,586,3693	yes	missense	PLA2G3	NM_015715.3	32	22,688,5793	CC,CG,GG		7.3023,2.3604,5.6282	probably-damaging	157/510	31535872	732,12274	2203	4300	6503	SO:0001583	missense	50487	exon1			ACCACAGTGTGCC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.469C>G	22.37:g.31535872G>C	ENSP00000215885:p.Leu157Val	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	78	5	NM_015715	0	0	0	0	0	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	315	0.14423076923076922	2	0.0040650406504065045	39	0.10773480662983426	206	0.36013986013986016	68	0.08970976253298153	G	22.1	4.247613	0.80024	0.023604	0.073023	ENSG00000100078	ENST00000215885	T	0.30714	1.52	5.17	4.16	0.48862	Phospholipase A2 (3);	0.000000	0.64402	D	0.000001	T	0.00012	0.0000	M	0.84846	2.72	0.20926	P	0.99982135	D	0.76494	0.999	D	0.74674	0.984	T	0.24693	-1.0153	9	0.54805	T	0.06	2.8557	10.8817	0.46942	0.0889:0.0:0.9111:0.0	rs2074735;rs2074735	157	Q9NZ20	PA2G3_HUMAN	V	157	ENSP00000215885:L157V	ENSP00000215885:L157V	L	-	1	2	PLA2G3	29865872	0.998000	0.40836	0.959000	0.39883	0.972000	0.66771	2.777000	0.47717	1.184000	0.42957	0.591000	0.81541	CTG	G|0.733;C|0.267		0.627	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		C	31535872	G	C	31535872	3	2	59	1	0	0	0	0	1	0	0	0	12039	1020	36	3	1088	3	PLA2G3	22	31535872	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	10385337	31535872	19768694	269	12239											
PACSIN2	11252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	43289603	43289603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgatccgcttcacagtcCgcttgtagttcccgacctag	9	15	1	0			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chr22:43289603C>T	ENST00000263246.3	-	3	278	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	PACSIN2_ENST00000402229.1_Missense_Mutation_p.R26Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R26Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.R26Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R26Q	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	26	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTTCACAGTCCGCTTGTAGTT	0.632																																					p.R26Q		.											.	PACSIN2-68	0			c.G77A						.						51	58	56					22																	43289603		2173	4295	6468	SO:0001583	missense	11252	exon3			ACAGTCCGCTTGT	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.77G>A	22.37:g.43289603C>T	ENSP00000263246:p.Arg26Gln	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	191	32	NM_007229	0	0	0	0	0	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131341	0.94473	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336;ENST00000453079	T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	4.51	4.51	0.55191	Fps/Fes/Fer/CIP4 homology (3);	0.184730	0.47852	D	0.000204	T	0.42743	0.1216	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68353	0.927;0.957	T	0.32161	-0.9917	10	0.14252	T	0.57	-2.2919	18.5461	0.91047	0.0:1.0:0.0:0.0	.	26;26	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	Q	26	ENSP00000263246:R26Q;ENSP00000338379:R26Q;ENSP00000385952:R26Q;ENSP00000385372:R26Q;ENSP00000385040:R26Q;ENSP00000398573:R26Q;ENSP00000396816:R26Q;ENSP00000403435:R26Q	ENSP00000263246:R26Q	R	-	2	0	PACSIN2	41619547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.805000	0.69143	2.793000	0.96121	0.563000	0.77884	CGG	.		0.632	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		T	43289603	C	T	43289603	3	4	59	1	0	0	0	0	1	0	0	0	11414	652	23	1	1419	1	PACSIN2	22	43289603	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	11753731	43289603	8014963	270	12240											
VCX	26609	bcgsc.ca	37	chrX	7811812	7811812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtggaagaaccactgagtCaggagagccaggtggaggaa	17	6	1	3	rs144779201		TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:7811812C>G	ENST00000381059.3	+	3	595	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	VCX_ENST00000341408.4_Intron	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	126	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCACTGAGTCAGGAGAGCCA	0.617																																					p.Q126E		.											.	VCX-22	0			c.C376G						.						33	43	39					X																	7811812		1478	3106	4584	SO:0001583	missense	26609	exon3			CTGAGTCAGGAGA	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.376C>G	X.37:g.7811812C>G	ENSP00000370447:p.Gln126Glu	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	147	7	NM_013452	0	0	0	0	0	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.794547	0.00617	.	.	ENSG00000182583	ENST00000381059	T	0.18657	2.2	.	.	.	.	.	.	.	.	T	0.09598	0.0236	N	0.24115	0.695	0.80722	D	1	P	0.45594	0.862	B	0.40702	0.338	T	0.34030	-0.9845	8	0.02654	T	1	.	5.8616	0.18752	0.0:0.9991:0.0:9.0E-4	.	126	Q9H320	VCX1_HUMAN	E	126	ENSP00000370447:Q126E	ENSP00000370447:Q126E	Q	+	1	0	VCX	7771812	0.000000	0.05858	0.064000	0.19789	0.064000	0.16182	-4.355000	0.00247	0.068000	0.16574	0.068000	0.15388	CAG	C|0.996;G|0.004		0.617	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		G	7811812	C	G	7811812	3	3	59	1	0	0	0	0	1	0	0	0	17191	827	29	3	382	3	VCX	23	7811812	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10		7811812	147458748	271	12241											
MAGEE2	139599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	75003782	75003782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggtatcaacctcaaTcagagacaacccatagaaca	5	13	4	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:75003782T>G	ENST00000373359.2	-	1	1297	c.1105A>C	c.(1105-1107)Att>Ctt	p.I369L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	369	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAACCTCAATCAGAGACAAC	0.453																																					p.I369L		.											.	MAGEE2-132	0			c.A1105C						.						97	79	85					X																	75003782		2203	4300	6503	SO:0001583	missense	139599	exon1			CCTCAATCAGAGA	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1105A>C	X.37:g.75003782T>G	ENSP00000362457:p.Ile369Leu	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	53	11	NM_138703	0	0	0	0	0	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.938	1.216583	0.22373	.	.	ENSG00000186675	ENST00000373359	T	0.04603	3.59	3.18	3.18	0.36537	.	.	.	.	.	T	0.10165	0.0249	L	0.41492	1.28	0.26640	N	0.972308	P	0.52463	0.953	D	0.65443	0.935	T	0.22452	-1.0216	9	0.18710	T	0.47	.	7.1074	0.25370	0.0:0.0:0.0:1.0	.	369	Q8TD90	MAGE2_HUMAN	L	369	ENSP00000362457:I369L	ENSP00000362457:I369L	I	-	1	0	MAGEE2	74920507	1.000000	0.71417	0.986000	0.45419	0.557000	0.35523	2.128000	0.42045	1.485000	0.48380	0.345000	0.21793	ATT	.		0.453	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		G	75003782	T	G	75003782	3	3	59	1	0	0	0	0	1	0	0	0	9224	1435	50	5	470	5	MAGEE2	23	75003782	Missense_Mutation	SNP	T	TCGA-P6-A5OH-01A-11D-A30A-10	67191970	75003782	80266778	272	12242											
VSIG1	340547	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	107320488	107320488	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgaccttgacatcgaGctggagctggagccagaaac	13	11	0	3			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:107320488G>C	ENST00000217957.5	+	7	1158	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	VSIG1_ENST00000415430.3_Missense_Mutation_p.E383D	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	347						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGACATCGAGCTGGAGCTGG	0.577																																					p.E383D		.											.	VSIG1-132	0			c.G1149C						.						74	69	70					X																	107320488		2203	4300	6503	SO:0001583	missense	340547	exon8			CATCGAGCTGGAG	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.1041G>C	X.37:g.107320488G>C	ENSP00000217957:p.Glu347Asp	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	112	36	NM_001170553	0	0	0	0	0	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851630	0.32699	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.42900	0.96;0.96	3.99	-2.8	0.05823	.	1.809900	0.02838	N	0.127647	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.04693	-1.0933	10	0.15499	T	0.54	.	2.2228	0.03977	0.2063:0.4312:0.2152:0.1473	.	383;347	C9J4P2;Q86XK7	.;VSIG1_HUMAN	D	383;347	ENSP00000402219:E383D;ENSP00000217957:E347D	ENSP00000217957:E347D	E	+	3	2	VSIG1	107207144	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.657000	0.05335	-0.837000	0.04223	0.513000	0.50165	GAG	.		0.577	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		C	107320488	G	C	107320488	3	2	59	1	0	0	0	0	1	0	0	0	17271	962	34	3	1179	3	VSIG1	23	107320488	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	32316706	107320488	47950072	273	12243											
RHOXF1	158800	broad.mit.edu;ucsc.edu	37	chrX	119249707	119249707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccagctgaggtgtgggGcttatttttacctggtatac	12	10	0	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:119249707G>T	ENST00000217999.2	-	1	140	c.66C>A	c.(64-66)agC>agA	p.S22R	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	22					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|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)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GAGGTGTGGGGCTTATTTTTA	0.597																																					p.S22R		.											.	RHOXF1-130	0			c.C66A						.						43	40	41					X																	119249707		2201	4298	6499	SO:0001583	missense	158800	exon1			TGTGGGGCTTATT		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.66C>A	X.37:g.119249707G>T	ENSP00000217999:p.Ser22Arg	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	41	5	NM_139282	0	0	0	0	0	O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.896692	0.00059	.	.	ENSG00000101883	ENST00000217999	D	0.89746	-2.56	2.02	-4.05	0.03998	.	.	.	.	.	T	0.68952	0.3057	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.30854	T	0.27	0.7631	1.3128	0.02101	0.1908:0.3994:0.1226:0.2872	.	22	Q8NHV9	RHXF1_HUMAN	R	22	ENSP00000217999:S22R	ENSP00000217999:S22R	S	-	3	2	RHOXF1	119133735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.233000	0.00547	-4.355000	0.00054	-2.286000	0.00268	AGC	.		0.597	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		T	119249707	G	T	119249707	3	4	59	1	0	0	0	0	1	0	0	0	13392	1194	42	3	500	3	RHOXF1	23	119249707	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	11929219	119249707	36020853	274	12244											
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu	37	chrX	125685583	125685583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccggatgttctgctggtCctggcgcagatccaggaaag	16	10	1	1			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:125685583C>T	ENST00000371126.1	-	1	1251	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	337										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTCTGCTGGTCCTGGCGCAGA	0.602																																					p.D337N		.											.	DCAF12L1-132	0			c.G1009A						.						49	47	47					X																	125685583		2203	4300	6503	SO:0001583	missense	139170	exon1			GCTGGTCCTGGCG	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1009G>A	X.37:g.125685583C>T	ENSP00000360167:p.Asp337Asn	Somatic	223	0		WXS	Illumina GAIIx	Phase_I	180	11	NM_178470	0	0	0	0	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	4.025	0.002104	0.07819	.	.	ENSG00000198889	ENST00000371126	T	0.62364	0.03	3.64	-1.73	0.08081	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.307940	0.05630	N	0.581517	T	0.42154	0.1190	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.26155	-1.0111	10	0.37606	T	0.19	.	12.2471	0.54576	0.0:0.1711:0.7265:0.1024	.	337	Q5VU92	DC121_HUMAN	N	337	ENSP00000360167:D337N	ENSP00000360167:D337N	D	-	1	0	DCAF12L1	125513264	0.292000	0.24362	0.000000	0.03702	0.434000	0.31775	0.939000	0.28978	-0.540000	0.06265	0.429000	0.28392	GAC	.		0.602	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685583	C	T	125685583	3	4	59	1	0	0	0	0	1	0	0	0	4273	855	30	3	386	3	DCAF12L1	23	125685583	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	6435876	125685583	29584977	275	12245											
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	125685622	125685622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgtgggaatgggagcCcacggcgtacacagacatat	14	9	0	2			TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:125685622C>T	ENST00000371126.1	-	1	1212	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	324										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAATGGGAGCCCACGGCGTAC	0.607																																					p.G324S		.											.	DCAF12L1-132	0			c.G970A						.						61	55	57					X																	125685622		2203	4300	6503	SO:0001583	missense	139170	exon1			GGGAGCCCACGGC	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.970G>A	X.37:g.125685622C>T	ENSP00000360167:p.Gly324Ser	Somatic	285	0		WXS	Illumina GAIIx	Phase_I	268	18	NM_178470	0	0	0	0	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101002	0.56183	.	.	ENSG00000198889	ENST00000371126	T	0.68479	-0.33	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36778	N	0.002416	T	0.81322	0.4798	M	0.83384	2.64	0.46131	D	0.998882	D	0.89917	1.0	D	0.91635	0.999	D	0.83990	0.0337	10	0.66056	D	0.02	.	12.4843	0.55863	0.0:1.0:0.0:0.0	.	324	Q5VU92	DC121_HUMAN	S	324	ENSP00000360167:G324S	ENSP00000360167:G324S	G	-	1	0	DCAF12L1	125513303	1.000000	0.71417	0.994000	0.49952	0.143000	0.21401	6.262000	0.72514	2.098000	0.63641	0.429000	0.28392	GGC	.		0.607	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685622	C	T	125685622	3	4	59	1	0	0	0	0	1	0	0	0	4273	623	22	3	425	3	DCAF12L1	23	125685622	Missense_Mutation	SNP	C	TCGA-P6-A5OH-01A-11D-A30A-10	39	125685622	29584938	276	12246											
GPC3	2719	hgsc.bcm.edu;bcgsc.ca	37	chrX	132730533	132730535	+	In_Frame_Del	DEL	TCT	TCT	-													cagagcctccaatgcactcaTcttcatcatcaccgcagtct							TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10	TCT	TCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:132730533_132730535delTCT	ENST00000370818.3	-	7	1951_1953	c.1506_1508delAGA	c.(1504-1509)gaagat>gat	p.E502del	GPC3_ENST00000394299.2_In_Frame_Del_p.E525del|GPC3_ENST00000543339.1_In_Frame_Del_p.E448del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	502					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)					AATGCACTCATCTTCATCATCAC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.525_526del		.	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3-847	0			c.1575_1577del						.																																			SO:0001651	inframe_deletion	2719	exon8	Familial Cancer Database	SGBS	CACTCATCTTCAT	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.1506_1508delAGA	X.37:g.132730533_132730535delTCT	ENSP00000359854:p.Glu502del	Somatic	396	1		WXS	Illumina GAIIx	Phase_I	269	62	NM_001164617	0	0	0	0	0	C9JLE3|G3V1R0|Q2L880|Q2L882	In_Frame_Del	DEL	ENST00000370818.3	37	CCDS14638.1																																																																																			.		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		-	132730535	TCT	-	132730533	7	5	59	1	0	1	0	1	0	0	0	0	6625	1435	50	0	242	0	GPC3	23	132730533	In_Frame_Del	DEL	TCT	TCGA-P6-A5OH-01A-11D-A30A-10	7044911	132730533	22540027	277	12247											
PLXNA3	55558	broad.mit.edu	37	chrX	153689643	153689643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatcgtgcgcatgtgcGcgggagactcagagttctac	13	11	2	3	rs145244142	byFrequency	TCGA-P6-A5OH-01A-11D-A30A-10	TCGA-P6-A5OH-11A-01D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5632f8dc-6bed-4bbd-be97-3b2512028431	5f342e4b-0132-4834-8eb1-7654c0ddfdf2	g.chrX:153689643G>A	ENST00000369682.3	+	3	974	c.799G>A	c.(799-801)Gcg>Acg	p.A267T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCATGTGCGCGGGAGACTC	0.607																																					p.A267T		.											.	PLXNA3-132	0			c.G799A						.	G	THR/ALA	3,3832		0,3,1629,571	95	88	90		799	3.5	0	X	dbSNP_134	90	2,6726		0,2,2426,1872	yes	missense	PLXNA3	NM_017514.3	58	0,5,4055,2443	AA,AG,GG,G		0.0297,0.0782,0.0473	benign	267/1872	153689643	5,10558	2203	4300	6503	SO:0001583	missense	55558	exon3			ATGTGCGCGGGAG	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.799G>A	X.37:g.153689643G>A	ENSP00000358696:p.Ala267Thr	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	233	6	NM_017514	0	0	0	0	0	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	8.118	0.780273	0.16120	7.82E-4	2.97E-4	ENSG00000130827	ENST00000369682	T	0.10960	2.82	5.29	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.124679	0.56097	D	0.000036	T	0.08133	0.0203	L	0.43152	1.355	0.23816	N	0.996762	B	0.24258	0.1	B	0.26202	0.067	T	0.40534	-0.9558	10	0.09338	T	0.73	.	6.5277	0.22310	0.087:0.0:0.5809:0.3321	.	267	P51805	PLXA3_HUMAN	T	267	ENSP00000358696:A267T	ENSP00000358696:A267T	A	+	1	0	PLXNA3	153342837	0.000000	0.05858	0.019000	0.16419	0.256000	0.26092	0.639000	0.24690	0.584000	0.29591	0.594000	0.82650	GCG	G|0.999;A|0.001		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153689643	G	A	153689643	3	1	59	1	0	0	0	0	1	0	0	0	12160	1087	38	1	805	1	PLXNA3	23	153689643	Missense_Mutation	SNP	G	TCGA-P6-A5OH-01A-11D-A30A-10	20959110	153689643	1580917	278	12248											
SRRM1	10250	ucsc.edu	37	chr1	24978030	24978030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgctccagaaaagaagGaaaaaactccagagctccca	7	14	0	3			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr1:24978030G>A	ENST00000323848.9	+	6	967	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	SRRM1_ENST00000537199.1_Missense_Mutation_p.E87K|SRRM1_ENST00000447431.2_Missense_Mutation_p.E218K|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.E218K	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	218	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAAAAGAAGGAAAAAACTCC	0.448																																					p.E218K	Ovarian(68;897 1494 3282 17478)	.											.	SRRM1-93	0			c.G652A						.						46	54	51					1																	24978030		2203	4300	6503	SO:0001583	missense	10250	exon6			AAGAAGGAAAAAA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.652G>A	1.37:g.24978030G>A	ENSP00000326261:p.Glu218Lys	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	97	1	NM_005839	0	0	9	9	0	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932311	0.92389	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.47528	0.84;0.88;0.88;0.84	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000009	T	0.67277	0.2876	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.65529	-0.6146	10	0.52906	T	0.07	-4.0836	20.0684	0.97708	0.0:0.0:1.0:0.0	.	218;218	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	K	218;218;218;87	ENSP00000326261:E218K;ENSP00000391430:E218K;ENSP00000363510:E218K;ENSP00000441776:E87K	ENSP00000326261:E218K	E	+	1	0	SRRM1	24850617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.429000	0.66495	2.734000	0.93682	0.650000	0.86243	GAA	.		0.448	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		A	24978030	G	A	24978030	3	1	60	1	0	0	0	0	1	0	0	0	15215	1175	41	3	674	3	SRRM1	1	24978030	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		24978030	224272591	1	12249											
MAST2	23139	bcgsc.ca	37	chr1	46493460	46493460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactttggactgtccaaaatTggcctcatgagtctgacaac	9	10	2	2	rs1707336	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr1:46493460T>G	ENST00000361297.2	+	17	2260	c.1977T>G	c.(1975-1977)atT>atG	p.I659M	MAST2_ENST00000372009.2_Missense_Mutation_p.I589M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGTCCAAAATTGGCCTCATGA	0.438													T|||	2430	0.485224	0.4259	0.4827	5008	,	,		21616	0.6607		0.4463	False		,,,				2504	0.4264				p.I659M		.											.	MAST2-581	0			c.T1977G						.	T	MET/ILE	1588,2230		341,906,662	116	112	113		1977	-0.6	1	1	dbSNP_89	113	3613,4673		806,2001,1336	yes	missense	MAST2	NM_015112.2	10	1147,2907,1998	GG,GT,TT		43.6037,41.5925,42.9693	benign	659/1799	46493460	5201,6903	1909	4143	6052	SO:0001583	missense	23139	exon17			CAAAATTGGCCTC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1977T>G	1.37:g.46493460T>G	ENSP00000354671:p.Ile659Met	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	217	6	NM_015112	0	0	10	10	0		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	1011	0.46291208791208793	196	0.3983739837398374	170	0.4696132596685083	343	0.5996503496503497	302	0.39841688654353563	T	12.25	1.881032	0.33255	0.415925	0.436037	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.65364	-0.15;-0.15;-0.15	5.41	-0.618	0.11576	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	0.00012	0.0000	N	0.21545	0.675	0.20307	P	0.9999129408	D;B;D;B	0.89917	0.988;0.12;1.0;0.379	D;B;D;P	0.91635	0.977;0.068;0.999;0.45	T	0.39440	-0.9614	9	0.02654	T	1	-11.8172	5.7492	0.18138	0.1423:0.203:0.0:0.6546	rs1707336;rs17402588;rs17845481;rs17858361;rs61064119;rs1707336	589;333;589;659	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	M	659;589;333;544	ENSP00000354671:I659M;ENSP00000361079:I589M;ENSP00000361078:I544M	ENSP00000354671:I659M	I	+	3	3	MAST2	46266047	0.264000	0.24093	1.000000	0.80357	0.937000	0.57800	-0.392000	0.07314	0.093000	0.17368	0.459000	0.35465	ATT	G|0.475;N|0.000		0.438	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		G	46493460	T	G	46493460	3	3	60	1	0	0	0	0	1	0	0	0	9363	1800	63	5	2043	5	MAST2	1	46493460	Missense_Mutation	SNP	T	TCGA-PA-A5YG-01A-11D-A29I-10	21515430	46493460	202757161	2	12250											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784860	149784861	+	Frame_Shift_Del	DEL	TG	TG	-													cgcggatgcggcgggccaacTggatgtccttgggcatgatg							TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr1:149784860_149784861delTG	ENST00000331491.1	-	1	375_376	c.376_377delCA	c.(376-378)cagfs	p.Q126fs	HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	126					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCGGGCCAACTGGATGTCCTTG	0.589																																					p.126_126del		.											.	HIST2H3D-22	0			c.376_377del						.																																			SO:0001589	frameshift_variant	653604	exon1			GCCAACTGGATGT	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.376_377delCA	1.37:g.149784860_149784861delTG	ENSP00000333277:p.Gln126fs	Somatic	315	0		WXS	Illumina GAIIx	Phase_I	611	11	NM_001123375	0	0	0	0	0	A2BDF6|A6NFS4|Q6B053	Frame_Shift_Del	DEL	ENST00000331491.1	37	CCDS41388.1																																																																																			.		0.589	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		-	149784861	TG	-	149784860	7	5	60	1	0	1	0	1	0	0	0	0	7208	1580	55	0	35	0	HIST2H3D	1	149784860	Frame_Shift_Del	DEL	TG	TCGA-PA-A5YG-01A-11D-A29I-10	103291400	149784860	99465761	3	12251											
DENND4B	9909	hgsc.bcm.edu	37	chr1	153907287	153907287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacacctgctcctgctgctGctgctgctgctgctgctgtt	11	14	0	1	rs3835302|rs199597671		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr1:153907287G>C	ENST00000361217.4	-	18	3140	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	908	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			tcctgctgctgctgctgctgc	0.632																																					p.Q908E		.											.	DENND4B-69	0			c.C2722G						.						23	27	26					1																	153907287		2184	4281	6465	SO:0001583	missense	9909	exon18			GCTGCTGCTGCTG	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2722C>G	1.37:g.153907287G>C	ENSP00000354597:p.Gln908Glu	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	113	6	NM_014856	0	0	5	5	0	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481073	0.04383	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06294	3.33;3.32	2.67	0.673	0.17941	.	5.053470	0.00166	N	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.02654	T	1	-2.4288	3.3651	0.07201	0.1454:0.0:0.5849:0.2697	.	908	O75064	DEN4B_HUMAN	E	908;919	ENSP00000354597:Q908E;ENSP00000357635:Q919E	ENSP00000354597:Q908E	Q	-	1	0	DENND4B	152173911	0.943000	0.32029	0.986000	0.45419	0.760000	0.43138	0.537000	0.23144	0.194000	0.20326	0.271000	0.19318	CAG	.		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153907287	G	C	153907287	3	2	60	1	0	0	0	0	1	0	0	0	4448	1328	46	3	1812	3	DENND4B	1	153907287	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	4122427	153907287	95343334	4	12252											
NCOA1	8648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24951320	24951320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagctgaactagacagagCtctgggaattgacaaacttg	11	8	1	4			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr2:24951320C>T	ENST00000406961.1	+	16	3513	c.2861C>T	c.(2860-2862)gCt>gTt	p.A954V	NCOA1_ENST00000405141.1_Missense_Mutation_p.A954V|NCOA1_ENST00000407230.1_Missense_Mutation_p.A803V|NCOA1_ENST00000395856.3_Missense_Mutation_p.A954V|NCOA1_ENST00000538539.1_Missense_Mutation_p.A954V|NCOA1_ENST00000348332.3_Missense_Mutation_p.A954V|NCOA1_ENST00000288599.5_Missense_Mutation_p.A954V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	954	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGACAGAGCTCTGGGAATT	0.368			T	PAX3	alveolar rhadomyosarcoma																																p.A954V		.		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	NCOA1-228	0			c.C2861T						.						70	67	68					2																	24951320		2203	4300	6503	SO:0001583	missense	8648	exon14			ACAGAGCTCTGGG	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2861C>T	2.37:g.24951320C>T	ENSP00000385216:p.Ala954Val	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	64	27	NM_147223	0	0	13	24	11	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659225	0.96734	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.04119	3.7;3.7;3.71;3.7;3.7;3.7;3.71	5.75	5.75	0.90469	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.052374	0.85682	D	0.000000	T	0.22437	0.0541	M	0.67397	2.05	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;0.997;0.998	T	0.00010	-1.2453	10	0.72032	D	0.01	.	19.9262	0.97102	0.0:1.0:0.0:0.0	.	954;954;954;803	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	V	954;954;803;954;954;954;954	ENSP00000385216:A954V;ENSP00000385097:A954V;ENSP00000385195:A803V;ENSP00000444039:A954V;ENSP00000320940:A954V;ENSP00000288599:A954V;ENSP00000379197:A954V	ENSP00000288599:A954V	A	+	2	0	NCOA1	24804824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.423000	0.80229	2.894000	0.99253	0.655000	0.94253	GCT	.		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		T	24951320	C	T	24951320	3	4	60	1	0	0	0	0	1	0	0	0	10267	797	28	3	2907	3	NCOA1	2	24951320	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10		24951320	218248053	5	12253											
ST6GAL2	84620	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	107423245	107423245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgcccatgttcaggcgCtgcaccaggagcttctcata	11	13	2	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr2:107423245C>A	ENST00000409382.3	-	6	2089	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.Q493H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	493					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGTTCAGGCGCTGCACCAGGA	0.622																																					p.Q493H		.											.	ST6GAL2-191	0			c.G1479T						.						93	80	84					2																	107423245		2203	4300	6503	SO:0001583	missense	84620	exon6			CAGGCGCTGCACC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1479G>T	2.37:g.107423245C>A	ENSP00000386942:p.Gln493His	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	159	32	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.974809|3.974809	0.74360|0.74360	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361803|ENST00000361686;ENST00000409382	.|T;T	.|0.34072	.|1.38;1.38	5.8|5.8	4.0|4.0	0.46444|0.46444	.|.	.|0.053669	.|0.85682	.|D	.|0.000000	T|T	0.45337|0.45337	0.1337|0.1337	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P	.|0.42248	.|0.774	.|P	.|0.48873	.|0.593	T|T	0.44498|0.44498	-0.9324|-0.9324	5|10	.|0.54805	.|T	.|0.06	-46.3163|-46.3163	9.0825|9.0825	0.36561|0.36561	0.0:0.7776:0.0:0.2224|0.0:0.7776:0.0:0.2224	.|.	.|493	.|Q96JF0	.|SIAT2_HUMAN	S|H	59|493	.|ENSP00000355273:Q493H;ENSP00000386942:Q493H	.|ENSP00000355273:Q493H	A|Q	-|-	1|3	0|2	ST6GAL2|ST6GAL2	106789677|106789677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	2.076000|2.076000	0.41548|0.41548	1.453000|1.453000	0.47775|0.47775	0.655000|0.655000	0.94253|0.94253	GCG|CAG	.		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107423245	C	A	107423245	3	1	60	1	0	0	0	0	1	0	0	0	15269	796	28	3	114	3	ST6GAL2	2	107423245	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	82471925	107423245	135776128	6	12254											
FAM171B	165215	ucsc.edu	37	chr2	187559047	187559047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacaacaacaacaacagca	7	14	0	0	rs73979342|rs144403657|rs71017336	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr2:187559047G>A	ENST00000304698.5	+	1	350	c.147G>A	c.(145-147)caG>caA	p.Q49Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	49	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcagcagcaacaacaac	0.632																																					p.Q49Q		.											.	FAM171B-141	0			c.G147A						.						23	26	25					2																	187559047		2202	4300	6502	SO:0001819	synonymous_variant	165215	exon1			GCAGCAGCAACAA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.147G>A	2.37:g.187559047G>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	135	16	NM_177454	0	0	18	29	11	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																			G|0.500;A|0.500		0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187559047	G	A	187559047	2	1	60	1	0	0	0	0	0	0	0	1	5510	962	34	3		3	FAM171B	2	187559047	Silent	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	80135802	187559047	55640326	7	12255											
NBEAL2	23218	broad.mit.edu	37	chr3	47043602	47043602	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcagctgcagcagctgcaGagcgctgctcctggctggtg	15	13	0	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr3:47043602G>A	ENST00000450053.3	+	31	5154	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1475K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1659					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		agcagctgcagAGCGCTGCTC	0.667																																					p.E1659K		.											.	NBEAL2-69	0			c.G4975A						.						4	6	5					3																	47043602		1988	3958	5946	SO:0001583	missense	23218	exon31			GCTGCAGAGCGCT	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4975G>A	3.37:g.47043602G>A	ENSP00000415034:p.Glu1659Lys	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	73	3	NM_015175	0	0	4	4	0	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.519048|3.519048	0.64634|0.64634	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000443829	T;T|.	0.67345|.	-0.15;-0.26|.	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.423781|.	0.24305|.	N|.	0.039684|.	T|T	0.73528|0.73528	0.3598|0.3598	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.884;0.976|.	P;P|.	0.59487|.	0.503;0.858|.	T|T	0.74737|0.74737	-0.3564|-0.3564	10|5	0.56958|.	D|.	0.05|.	.|.	15.7432|15.7432	0.77918|0.77918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1475;1659|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	K|K	1475;1659|27	ENSP00000292309:E1475K;ENSP00000415034:E1659K|.	ENSP00000292309:E1475K|.	E|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47018606|47018606	0.995000|0.995000	0.38212|0.38212	0.928000|0.928000	0.36995|0.36995	0.506000|0.506000	0.33950|0.33950	0.075000|0.075000	0.14686|0.14686	2.287000|2.287000	0.76781|0.76781	0.479000|0.479000	0.44913|0.44913	GAG|AGA	.		0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47043602	G	A	47043602	3	1	60	1	0	0	0	0	1	0	0	0	10227	943	33	3	5097	3	NBEAL2	3	47043602	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		47043602	150978828	8	12256											
PLXND1	23129	bcgsc.ca	37	chr3	129285429	129285429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgccctgggagttgaGggtctgggagggcagcacgt	20	8	1	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr3:129285429G>T	ENST00000324093.4	-	23	4310	c.4132C>A	c.(4132-4134)Ctc>Atc	p.L1378I	PLXND1_ENST00000393239.1_Missense_Mutation_p.L1378I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1378					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGGAGTTGAGGGTCTGGGAG	0.632																																					p.L1378I	Ovarian(97;366 1484 3738 22084 39045)	.											.	PLXND1-90	0			c.C4132A						.						88	78	81					3																	129285429		2203	4300	6503	SO:0001583	missense	23129	exon23			AGTTGAGGGTCTG	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4132C>A	3.37:g.129285429G>T	ENSP00000317128:p.Leu1378Ile	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	79	4	NM_015103	0	0	30	30	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192262	0.38707	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35421	1.37;1.31	5.21	4.33	0.51752	Plexin, cytoplasmic RasGAP domain (1);	28.477000	0.00855	N	0.001874	T	0.22742	0.0549	N	0.08118	0	0.36131	D	0.84615	B	0.32010	0.351	B	0.25506	0.061	T	0.17198	-1.0377	10	0.36615	T	0.2	.	9.5532	0.39324	0.1558:0.0:0.8442:0.0	.	1378	Q9Y4D7	PLXD1_HUMAN	I	1378	ENSP00000317128:L1378I;ENSP00000376931:L1378I	ENSP00000317128:L1378I	L	-	1	0	PLXND1	130768119	1.000000	0.71417	0.974000	0.42286	0.830000	0.47004	2.685000	0.46959	2.415000	0.81967	0.563000	0.77884	CTC	.		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129285429	G	T	129285429	3	4	60	1	0	0	0	0	1	0	0	0	12166	1000	35	3	1701	3	PLXND1	3	129285429	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	82241827	129285429	68737001	9	12257											
UGT2B15	7366	bcgsc.ca	37	chr4	69536084	69536084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagagaatcttccaaatAatttttagttaaagatgtag	7	4	1	3	rs1902023	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr4:69536084A>C	ENST00000338206.5	-	1	262	c.253T>G	c.(253-255)Tat>Gat	p.Y85D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	85			Y -> D (in dbSNP:rs1902023). {ECO:0000269|PubMed:7835232, ECO:0000269|PubMed:8399210}.		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)	TCTTCCAAATAATTTTTAGTT	0.308													c|||	2737	0.546526	0.6021	0.6052	5008	,	,		19778	0.5774		0.4871	False		,,,				2504	0.4591				p.Y85D		.											.	UGT2B15-46	0			c.T253G	GRCh37	CM004865	UGT2B15	M	rs1902023	.	C	ASP/TYR	2534,1866		729,1076,395	76	90	86	http://www.ncbi.nlm.nih.gov/omim/600069,601903,606497|http://omim.org/entry/606497|http://omim.org/entry/601903|http://omim.org/entry/600069	253	2.6	0	4	dbSNP_92	86	3995,4599		937,2121,1239	no	missense	UGT2B15	NM_001076.2	160	1666,3197,1634	CC,CA,AA		46.4859,42.4091,49.7537	benign	85/531	69536084	6529,6465	2200	4297	6497	SO:0001583	missense	7366	exon1			CCAAATAATTTTT	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.253T>G	4.37:g.69536084A>C	ENSP00000341045:p.Tyr85Asp	Somatic	294	2		WXS	Illumina GAIIx	Phase_I	289	10	NM_001076	0	0	0	0	0	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	1230	0.5631868131868132	315	0.6402439024390244	221	0.6104972375690608	331	0.5786713286713286	363	0.4788918205804749	N	0.004	-2.341011	0.00222	0.575909	0.464859	ENSG00000196620	ENST00000338206	T	0.55588	0.51	2.58	2.58	0.30949	.	1.156670	0.06579	N	0.750000	T	0.00012	0.0000	N	0.00815	-1.16	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	9	0.11794	T	0.64	.	3.3319	0.07087	0.259:0.5958:0.0:0.1453	.	85	P54855	UDB15_HUMAN	D	85	ENSP00000341045:Y85D	ENSP00000341045:Y85D	Y	-	1	0	UGT2B15	69218679	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	-1.341000	0.02647	0.401000	0.25424	-0.407000	0.06327	TAT	A|0.468;C|0.532		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		C	69536084	A	C	69536084	3	2	60	1	0	0	0	0	1	0	0	0	17007	362	13	5	2980	5	UGT2B15	4	69536084	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10		69536084	121618192	10	12258											
ADH1A	124	ucsc.edu	37	chr4	100203572	100203572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcatttcctttagcacCtcctggatgggtttcttgta	8	10	3	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr4:100203572C>T	ENST00000209668.2	-	6	872	c.759G>A	c.(757-759)gaG>gaA	p.E253E	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	253					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTTTAGCACCTCCTGGATGG	0.463																																					p.E253E		.											.	ADH1A-227	0			c.G759A						.						352	350	351					4																	100203572		2203	4300	6503	SO:0001819	synonymous_variant	124	exon6			TAGCACCTCCTGG	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.759G>A	4.37:g.100203572C>T		Somatic	282	16		WXS	Illumina GAIIx	Phase_I	404	15	NM_000667	1	1	1	1788	1785	A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	CCDS3648.1																																																																																			.		0.463	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		T	100203572	C	T	100203572	2	4	60	1	0	0	0	0	0	0	0	1	307	680	24	3		3	ADH1A	4	100203572	Silent	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	30667488	100203572	90950704	11	12259											
PCDHB3	56132	ucsc.edu	37	chr5	140482342	140482342	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttcgctcttcctcttTtcggtgctcctgttcgtggc	10	13	3	0	rs17844403	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr5:140482342T>C	ENST00000231130.2	+	1	2109	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	703					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCCTCTTTTCGGTGCTCC	0.692																																					p.F703F		.											.	PCDHB3-92	0			c.T2109C						.						75	77	77					5																	140482342		2191	4265	6456	SO:0001819	synonymous_variant	56132	exon1			CCTCTTTTCGGTG	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2109T>C	5.37:g.140482342T>C		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	67	9	NM_018937	0	0	10	34	24	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																			T|0.997;C|0.003		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		C	140482342	T	C	140482342	2	2	60	1	0	0	0	0	0	0	0	1	11582	1838	64	4		4	PCDHB3	5	140482342	Silent	SNP	T	TCGA-PA-A5YG-01A-11D-A29I-10		140482342	40432918	12	12260											
BAT2	7916	broad.mit.edu	37	chr6	31597341	31597358	+	In_Frame_Del	DEL	AGCAGCAGCAGCACCAGT	AGCAGCAGCAGCACCAGT	-													ctaggagcagctcctgaagcAgcagcagcagcaccagtggc							TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr6:31597341_31597358delAGCAGCAGCAGCACCAGT	ENST00000376033.2	+	14	2207_2224	c.1973_1990delAGCAGCAGCAGCACCAGT	c.(1972-1992)cagcagcagcagcaccagtgg>cgg	p.658_664QQQQHQW>R	PRRC2A_ENST00000376007.4_In_Frame_Del_p.658_664QQQQHQW>R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	658	4 X 57 AA type A repeats.|Poly-Gln.					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						CTCCTGAagcagcagcagcagcaccagtggcagcagca	0.578																																					p.658_664del		.											.	PRRC2A-156	0			c.1973_1990del						.																																			SO:0001651	inframe_deletion	7916	exon14			TGAAGCAGCAGCA	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.1973_1990delAGCAGCAGCAGCACCAGT	6.37:g.31597341_31597358delAGCAGCAGCAGCACCAGT	ENSP00000365201:p.Gln658_Trp664delinsArg	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_004638	0	0	0	0	0	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	CCDS4708.1																																																																																			.		0.578	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		-	31597358	AGCAGCAGCAGCACCAGT	-	31597341	7	5	60	1	0	1	0	1	0	0	0	0	1320	188	7	0	2023	0	BAT2	6	31597341	In_Frame_Del	DEL	AGCAGCAGCAGCACCAGT	TCGA-PA-A5YG-01A-11D-A29I-10		31597341	139517726	13	12261											
LAMA2	3908	bcgsc.ca	37	chr6	129722453	129722453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatactcgatgaagccaacCgtcttgcagatgaaatcaac	7	11	2	3	rs56173620	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr6:129722453C>A	ENST00000421865.2	+	38	5579	c.5530C>A	c.(5530-5532)Cgt>Agt	p.R1844S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1844	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGCCAACCGTCTTGCAGA	0.403													C|||	25	0.00499201	0	0.0043	5008	,	,		20618	0		0.0199	False		,,,				2504	0.002				p.R1844S		.											.	LAMA2-162	0			c.C5530A						.	C	SER/ARG,SER/ARG	18,4388	26.2+/-53.5	0,18,2185	132	127	129		5530,5530	4.4	1	6	dbSNP_129	129	147,8453	71.3+/-133.9	4,139,4157	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	110,110	4,157,6342	AA,AC,CC		1.7093,0.4085,1.2686	benign,benign	1844/3123,1844/3119	129722453	165,12841	2203	4300	6503	SO:0001583	missense	3908	exon38			GCCAACCGTCTTG	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.5530C>A	6.37:g.129722453C>A	ENSP00000400365:p.Arg1844Ser	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	88	4	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	14	0.00641025641025641	0	0.0	1	0.0027624309392265192	0	0.0	13	0.017150395778364115	C	7.208	0.594825	0.13875	0.004085	0.017093	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.22134	1.97	5.28	4.4	0.53042	Laminin I (1);	0.586969	0.17927	N	0.157316	T	0.03915	0.0110	N	0.24115	0.695	0.26528	N	0.974306	B;B	0.23442	0.085;0.085	B;B	0.25291	0.059;0.059	T	0.39800	-0.9596	10	0.08837	T	0.75	.	8.7839	0.34809	0.3635:0.442:0.1945:0.0	rs56173620	1844;1844	A6NF00;P24043	.;LAMA2_HUMAN	S	1844	ENSP00000400365:R1844S	ENSP00000346769:R1844S	R	+	1	0	LAMA2	129764146	0.020000	0.18652	0.986000	0.45419	0.833000	0.47200	1.080000	0.30779	1.312000	0.45043	0.655000	0.94253	CGT	C|0.989;A|0.011		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129722453	C	A	129722453	3	1	60	1	0	0	0	0	1	0	0	0	8634	652	23	2	5680	2	LAMA2	6	129722453	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	98125112	129722453	41392614	14	12262											
POU5F1B	5462	bcgsc.ca	37	chr8	128428621	128428621	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggccgatgtggggctcatCctgggggttctatttgggaa	16	8	2	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr8:128428621C>A	ENST00000465342.2	+	2	1667	c.510C>A	c.(508-510)atC>atA	p.I170I	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.I170I|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	170	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TGGGGCTCATCCTGGGGGTTC	0.522																																					p.I170I		.											.	.	0			c.C510A						.						84	88	86					8																	128428621		692	1591	2283	SO:0001819	synonymous_variant	5462	exon1			GCTCATCCTGGGG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.510C>A	8.37:g.128428621C>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	30	4	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.522	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		A	128428621	C	A	128428621	2	1	60	1	0	0	0	0	0	0	0	1	12321	845	30	3		3	POU5F1B	8	128428621	Silent	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10		128428621	17935401	15	12263											
GNAQ	2776	broad.mit.edu	37	chr9	80646047	80646047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgagctcccggcgggcGtcccgcttgtccctgcggag	15	15	0	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																p.D35D		.		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	.	GNAQ-3808	0			c.C105T						.						10	11	11					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	2776	exon1			GCGGGCGTCCCGC		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	100	10	NM_002072	0	0	4	4	0	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	CCDS6658.1																																																																																			.		0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		A	80646047	G	A	80646047	2	1	60	1	0	0	0	0	0	0	0	1	6535	1136	40	1		1	GNAQ	9	80646047	Silent	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		80646047	60567384	16	12264											
COL15A1	1306	ucsc.edu	37	chr9	101748114	101748114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatctacctgggcctgcGgctctcaggtgtggaggacg	16	11	3	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr9:101748114G>A	ENST00000375001.3	+	3	791	c.368G>A	c.(367-369)cGg>cAg	p.R123Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	123	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGGCCTGCGGCTCTCAGGT	0.632																																					p.R123Q		.											.	COL15A1-96	0			c.G368A						.						72	70	71					9																	101748114		2203	4300	6503	SO:0001583	missense	1306	exon3			GCCTGCGGCTCTC	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.368G>A	9.37:g.101748114G>A	ENSP00000364140:p.Arg123Gln	Somatic	113	0		WXS	Illumina GAIIx	Phase_I	140	2	NM_001855	0	0	34	64	30	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284260	0.40394	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73469	-0.75	5.25	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339351	0.30649	N	0.009161	T	0.59756	0.2217	L	0.52364	1.645	0.33484	D	0.58789	B;P	0.37122	0.175;0.583	B;B	0.31614	0.027;0.133	T	0.62872	-0.6762	10	0.08381	T	0.77	-10.2132	8.3769	0.32449	0.179:0.0:0.821:0.0	.	123;93	P39059;B3KTP7	COFA1_HUMAN;.	Q	123;93	ENSP00000364140:R123Q	ENSP00000364140:R123Q	R	+	2	0	COL15A1	100787935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.239000	0.43079	1.343000	0.45638	0.650000	0.86243	CGG	.		0.632	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101748114	G	A	101748114	3	1	60	1	0	0	0	0	1	0	0	0	3679	1116	39	1	378	1	COL15A1	9	101748114	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	21102067	101748114	39465317	17	12265											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	114195628	114195628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcacctgttcagcttctaTgaatttcacgattcccaatt	6	11	3	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr9:114195628T>C	ENST00000338205.5	-	7	952	c.733A>G	c.(733-735)Ata>Gta	p.I245V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.I423V			Q5VYK3	ECM29_HUMAN	KIAA0368	251					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						TCAGCTTCTATGAATTTCACG	0.463																																					p.I423V		.											.	KIAA0368-68	0			c.A1267G						.						94	89	90					9																	114195628		1929	4128	6057	SO:0001583	missense	23392	exon9			CTTCTATGAATTT	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.733A>G	9.37:g.114195628T>C	ENSP00000339889:p.Ile245Val	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	152	8	NM_001080398	0	0	14	14	0	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	T	15.95	2.984508	0.53934	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.44083	0.93	5.95	4.78	0.61160	Armadillo-type fold (1);	0.043412	0.85682	D	0.000000	T	0.32041	0.0816	L	0.39020	1.185	0.80722	D	1	B	0.18968	0.032	B	0.23018	0.043	T	0.08700	-1.0709	10	0.37606	T	0.19	.	8.4058	0.32614	0.1311:0.0:0.1374:0.7314	.	251	Q5VYK3	ECM29_HUMAN	V	245;423	ENSP00000259335:I423V	ENSP00000259335:I423V	I	-	1	0	KIAA0368	113235449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.842000	0.69417	1.031000	0.39867	0.460000	0.39030	ATA	.		0.463	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		C	114195628	T	C	114195628	3	2	60	1	0	0	0	0	1	0	0	0	8198	1464	51	4	4958	4	KIAA0368	9	114195628	Missense_Mutation	SNP	T	TCGA-PA-A5YG-01A-11D-A29I-10	12447514	114195628	27017803	18	12266											
FRMD4A	55691	hgsc.bcm.edu	37	chr10	13699100	13699100	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actccttgatgcggtactgcGagctgggctggctctggctg	15	11	1	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr10:13699100G>T	ENST00000357447.2	-	22	2857	c.2489C>A	c.(2488-2490)tCg>tAg	p.S830*	FRMD4A_ENST00000378503.1_Nonsense_Mutation_p.S830*|FRMD4A_ENST00000358621.4_Nonsense_Mutation_p.S815*	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	830					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCGGTACTGCGAGCTGGGCTG	0.736																																					p.S830X		.											.	FRMD4A-229	0			c.C2489A						.						15	14	14					10																	13699100		2199	4293	6492	SO:0001587	stop_gained	55691	exon22			TACTGCGAGCTGG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2489C>A	10.37:g.13699100G>T	ENSP00000350032:p.Ser830*	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	28	20	NM_018027	0	0	0	0	0	A7E2Y3|Q5T377	Nonsense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	41	8.619892	0.98888	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6288	17.8751	0.88823	0.0:0.0:1.0:0.0	.	.	.	.	X	815;830;830	.	ENSP00000350032:S830X	S	-	2	0	FRMD4A	13739106	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.167000	0.94773	2.195000	0.70347	0.174000	0.16983	TCG	.		0.736	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		T	13699100	G	T	13699100	4	4	60	1	0	0	0	0	0	1	0	0	6075	1059	37	2	642	2	FRMD4A	10	13699100	Nonsense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		13699100	121835647	19	12267											
STAM	8027	broad.mit.edu	37	chr10	17730077	17730077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcttatggttgaatggacaGatgaatttaagaatgatcca	9	5	1	5	rs568999505		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr10:17730077G>C	ENST00000377524.3	+	5	564	c.349G>C	c.(349-351)Gat>Cat	p.D117H	STAM_ENST00000540523.1_Missense_Mutation_p.D6H	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	117	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAATGGACAGATGAATTTAA	0.353													G|||	1	0.000199681	0	0.0014	5008	,	,		16406	0		0	False		,,,				2504	0				p.D117H		.											.	STAM-154	0			c.G349C						.						128	131	130					10																	17730077		2203	4300	6503	SO:0001583	missense	8027	exon5			TGGACAGATGAAT	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.349G>C	10.37:g.17730077G>C	ENSP00000366746:p.Asp117His	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	117	4	NM_003473	0	0	5	5	0	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781683	0.70222	.	.	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500;ENST00000540523	T;T	0.23950	1.91;1.88	5.83	4.92	0.64577	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.140240	0.64402	D	0.000006	T	0.33731	0.0873	L	0.28054	0.825	0.80722	D	1	D	0.60575	0.988	P	0.58928	0.848	T	0.04203	-1.0969	10	0.59425	D	0.04	-28.5957	15.329	0.74190	0.0682:0.0:0.9318:0.0	.	117	Q92783	STAM1_HUMAN	H	117;67;20;6	ENSP00000366746:D117H;ENSP00000438073:D6H	ENSP00000366721:D20H	D	+	1	0	STAM	17770083	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.943000	0.87716	2.762000	0.94881	0.591000	0.81541	GAT	.		0.353	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		C	17730077	G	C	17730077	3	2	60	1	0	0	0	0	1	0	0	0	15295	942	33	3	367	3	STAM	10	17730077	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	4030977	17730077	117804670	20	12268											
IDE	3416	broad.mit.edu	37	chr10	94268534	94268534	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaggaccttcatgcccaatGagatgaccaagataatgacc	8	12	1	4	rs201815833		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr10:94268534G>T	ENST00000265986.6	-	7	1067	c.1011C>A	c.(1009-1011)ctC>ctA	p.L337L		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	337	Substrate binding exosite.				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)"	CATGCCCAATGAGATGACCAA	0.408																																					p.L337L		.											.	IDE-92	0			c.C1011A						.						156	153	154					10																	94268534		2203	4300	6503	SO:0001819	synonymous_variant	3416	exon7			CCCAATGAGATGA	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.1011C>A	10.37:g.94268534G>T		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	109	5	NM_004969	0	0	16	16	0	B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																			.		0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		T	94268534	G	T	94268534	2	4	60	1	0	0	0	0	0	0	0	1	7520	1277	45	3		3	IDE	10	94268534	Silent	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	76538457	94268534	41266213	21	12269											
ERLIN1	10613	bcgsc.ca	37	chr10	101912064	101912064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttactgttagaagcaaTggcctggtactttttgagct	10	7	1	2	rs2862954	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr10:101912064T>C	ENST00000421367.2	-	11	3578	c.871A>G	c.(871-873)Att>Gtt	p.I291V	ERLIN1_ENST00000407654.3_Missense_Mutation_p.I291V	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	289					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		TTAGAAGCAATGGCCTGGTAC	0.438													T|||	940	0.1877	0.0295	0.2997	5008	,	,		21899	0.0665		0.4811	False		,,,				2504	0.1452				p.I291V		.											.	.	0			c.A871G						.	T	VAL/ILE,VAL/ILE	460,3946	220.7+/-238.1	29,402,1772	112	110	111		871,871	4.4	1	10	dbSNP_101	111	4044,4556	558.7+/-387.3	949,2146,1205	yes	missense,missense	ERLIN1	NM_001100626.1,NM_006459.3	29,29	978,2548,2977	CC,CT,TT		47.0233,10.4403,34.6302	benign,benign	291/349,291/349	101912064	4504,8502	2203	4300	6503	SO:0001583	missense	10613	exon11			AAGCAATGGCCTG	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.871A>G	10.37:g.101912064T>C	ENSP00000410964:p.Ile291Val	Somatic	150	1		WXS	Illumina GAIIx	Phase_I	180	6	NM_006459	0	0	24	24	0	B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	CCDS7487.2	540	0.24725274725274726	15	0.03048780487804878	135	0.3729281767955801	39	0.06818181818181818	351	0.4630606860158311	T	14.97	2.695080	0.48202	0.104403	0.470233	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410	T;T	0.66638	-0.22;-0.22	5.49	4.36	0.52297	.	0.175745	0.46442	U	0.000283	T	0.00012	0.0000	L	0.31157	0.91	0.09310	P	0.99999600384	B;B	0.13594	0.008;0.004	B;B	0.18263	0.021;0.015	T	0.41610	-0.9499	9	0.37606	T	0.19	-9.2173	9.7803	0.40645	0.0:0.0821:0.0:0.9179	rs2862954;rs17728805;rs59558087;rs2862954	289;291	O75477;D3DR65	ERLN1_HUMAN;.	V	291;291;207	ENSP00000410964:I291V;ENSP00000384900:I291V	ENSP00000359438:I207V	I	-	1	0	ERLIN1	101902054	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.751000	0.68720	1.037000	0.40024	0.459000	0.35465	ATT	A|0.005;C|0.270		0.438	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		C	101912064	T	C	101912064	3	2	60	1	0	0	0	0	1	0	0	0	5248	1464	51	4	179	4	ERLIN1	10	101912064	Missense_Mutation	SNP	T	TCGA-PA-A5YG-01A-11D-A29I-10	7643530	101912064	33622683	22	12270											
MUC2	4583	broad.mit.edu	37	chr11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.637																																					p.T1704I		.											.	MUC2-90	0			c.C5111T						.						107	156	138					11																	1093292		1878	3453	5331	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.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	132	4	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093292	C	T	1093292	3	4	60	1	0	0	0	0	1	0	0	0	10013	507	18	3	5229	3	MUC2	11	1093292	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10		1093292	133913224	23	12271											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1271221	1271221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgaccacgaaggccAccacgacaagggccaccagt	11	15	0	1	rs61430934|rs199629887	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr11:1271221A>G	ENST00000529681.1	+	31	13169	c.13111A>G	c.(13111-13113)Acc>Gcc	p.T4371A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4374A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4371	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGAAGGCCACCACGACAAG	0.637																																					p.T4371A		.											.	.	0			c.A13111G						.						100	111	107					11																	1271221		2126	4211	6337	SO:0001583	missense	727897	exon31			AAGGCCACCACGA	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.13111A>G	11.37:g.1271221A>G	ENSP00000436812:p.Thr4371Ala	Somatic	462	0		WXS	Illumina GAIIx	Phase_I	549	23	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	5.021	0.189632	0.09547	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19250	2.16;2.35	2.29	-4.58	0.03410	.	.	.	.	.	T	0.16896	0.0406	L	0.55481	1.735	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.21360	0.034;0.034	T	0.35525	-0.9785	9	0.87932	D	0	.	5.3519	0.16040	0.6731:0.1246:0.0:0.2023	.	4844;4374	A7Y9J9;E9PBJ0	.;.	A	4371;4374;4315;4221;150	ENSP00000436812:T4371A;ENSP00000415793:T4374A	ENSP00000343037:T4315A	T	+	1	0	MUC5B	1227797	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.260000	0.00137	-1.046000	0.03246	0.155000	0.16302	ACC	.		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1271221	A	G	1271221	3	3	60	1	0	0	0	0	1	0	0	0	10017	159	6	4	13242	4	MUC5B	11	1271221	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10	177929	1271221	133735295	24	12272											
SYT8	90019	bcgsc.ca	37	chr11	1858262	1858262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccaccaaaaagggcaCggcggccccctacttcaatg	10	15	1	0	rs484955	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr11:1858262C>T	ENST00000381968.3	+	8	1036	c.908C>T	c.(907-909)aCg>aTg	p.T303M	SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000341958.3_Missense_Mutation_p.T289M	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	303	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAAAAGGGCACGGCGGCCCCC	0.622													C|||	929	0.185503	0.0507	0.2262	5008	,	,		18566	0.4137		0.1282	False		,,,				2504	0.1626				p.T303M		.											.	SYT8-91	0			c.C908T						.	C	MET/THR	270,4134	151.0+/-185.0	12,246,1944	97	112	107		908	2.3	0.1	11	dbSNP_83	107	1035,7563	219.7+/-257.6	60,915,3324	yes	missense	SYT8	NM_138567.3	81	72,1161,5268	TT,TC,CC		12.0377,6.1308,10.0369	probably-damaging	303/402	1858262	1305,11697	2202	4299	6501	SO:0001583	missense	90019	exon8			AGGGCACGGCGGC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.908C>T	11.37:g.1858262C>T	ENSP00000371394:p.Thr303Met	Somatic	189	1		WXS	Illumina GAIIx	Phase_I	121	8	NM_138567	0	0	0	0	0	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	417	0.19093406593406592	22	0.044715447154471545	80	0.22099447513812154	220	0.38461538461538464	95	0.12532981530343007	c	13.83	2.354034	0.41700	0.061308	0.120377	ENSG00000149043	ENST00000381968;ENST00000341958	T;T	0.12039	2.72;2.72	3.28	2.34	0.29019	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.00012	0.0000	H	0.94620	3.56	0.09310	P	1.0	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.29274	-1.0017	8	0.87932	D	0	.	10.6724	0.45766	0.0:0.9005:0.0:0.0995	rs484955;rs484955	303;289	Q8NBV8;A6NCR4	SYT8_HUMAN;.	M	303;289	ENSP00000371394:T303M;ENSP00000343691:T289M	ENSP00000343691:T289M	T	+	2	0	SYT8	1814838	0.689000	0.27690	0.051000	0.19133	0.176000	0.22953	2.807000	0.47955	0.720000	0.32209	0.436000	0.28706	ACG	C|0.863;T|0.137		0.622	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858262	C	T	1858262	3	4	60	1	0	0	0	0	1	0	0	0	15527	536	19	1	938	1	SYT8	11	1858262	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	587041	1858262	133148254	25	12273											
PGAP2	27315	broad.mit.edu	37	chr11	3845156	3845156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagccatcggcggggAggtgccccagcgctacgtgt	16	13	1	0	rs533117826	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr11:3845156A>G	ENST00000463452.2	+	3	292	c.209A>G	c.(208-210)gAg>gGg	p.E70G	PGAP2_ENST00000300730.6_Missense_Mutation_p.E127G|PGAP2_ENST00000278243.4_Missense_Mutation_p.E131G|PGAP2_ENST00000396986.2_Missense_Mutation_p.E127G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000493547.2_Missense_Mutation_p.E70G|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Missense_Mutation_p.E131G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396993.4_Silent_p.G23G|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000465307.2_Silent_p.G73G	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	70					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						ATCGGCGGGGAGGTGCCCCAG	0.642													A|||	26	0.00519169	0.0076	0.0014	5008	,	,		16736	0.003		0.003	False		,,,				2504	0.0092				p.E188G		.											.	PGAP2-90	0			c.A563G						.						69	70	70					11																	3845156		2201	4298	6499	SO:0001583	missense	27315	exon5			GCGGGGAGGTGCC	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.209A>G	11.37:g.3845156A>G	ENSP00000435223:p.Glu70Gly	Somatic	20	3		WXS	Illumina GAIIx	Phase_I	81	30	NM_001256236	0	0	10	10	0	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.91|18.91	3.723931|3.723931	0.68959|0.68959	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307|ENST00000459679;ENST00000464906	T;T;T;T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.64994|0.64994	0.2649|0.2649	L|L	0.60455|0.60455	1.87|1.87	0.40366|0.40366	D|D	0.97929|0.97929	D;P;P;D;P|.	0.76494|.	0.973;0.865;0.942;0.999;0.865|.	P;B;P;D;B|.	0.87578|.	0.783;0.343;0.783;0.998;0.343|.	T|T	0.65236|0.65236	-0.6217|-0.6217	10|5	0.26408|.	T|.	0.33|.	-17.084|-17.084	12.6354|12.6354	0.56681|0.56681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	127;70;131;70;70|.	A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2|.	.;.;PGAP2_HUMAN;.;.|.	G|G	127;127;131;100;70;131;70;70|101;161	ENSP00000380183:E127G;ENSP00000300730:E127G;ENSP00000380188:E131G;ENSP00000434088:E100G;ENSP00000431851:E70G;ENSP00000278243:E131G;ENSP00000435223:E70G;ENSP00000434507:E70G|.	ENSP00000278243:E131G|.	E|R	+|+	2|1	0|2	PGAP2|PGAP2	3801732|3801732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.258000|4.258000	0.58822|0.58822	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	GAG|AGG	.		0.642	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			G	3845156	A	G	3845156	3	3	60	1	0	0	0	0	1	0	0	0	11817	304	11	4	581	4	PGAP2	11	3845156	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10	1986894	3845156	131161360	26	12274											
PTPRJ	5795	bcgsc.ca	37	chr11	48166267	48166267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgaaatacacgtatgaGgatttcaaaaagggagcctc	10	8	1	2	rs4752904	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr11:48166267G>C	ENST00000418331.2	+	13	2968	c.2616G>C	c.(2614-2616)gaG>gaC	p.E872D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	872	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> D (in dbSNP:rs4752904). {ECO:0000269|PubMed:12089527, ECO:0000269|PubMed:15378013, ECO:0000269|PubMed:7937872, ECO:0000269|PubMed:7994032}.		contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACACGTATGAGGATTTCAAAA	0.403													G|||	1839	0.367212	0.056	0.5908	5008	,	,		23017	0.3839		0.5835	False		,,,				2504	0.3896				p.E872D		.											.	PTPRJ-541	0			c.G2616C	GRCh37	CM043073	PTPRJ	M	rs4752904	.	G	ASP/GLU	654,3748	277.5+/-273.7	49,556,1596	99	94	96		2616	-10.9	0	11	dbSNP_111	96	4952,3644	625.0+/-397.7	1407,2138,753	yes	missense	PTPRJ	NM_002843.3	45	1456,2694,2349	CC,CG,GG		42.3918,14.8569,43.1297	possibly-damaging	872/1338	48166267	5606,7392	2201	4298	6499	SO:0001583	missense	5795	exon13			GTATGAGGATTTC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2616G>C	11.37:g.48166267G>C	ENSP00000400010:p.Glu872Asp	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	112	5	NM_002843	0	0	0	0	0	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	955	0.43727106227106227	39	0.07926829268292683	214	0.5911602209944752	252	0.4405594405594406	450	0.5936675461741425	G	4.648	0.120524	0.08881	0.148569	0.576082	ENSG00000149177	ENST00000418331	T	0.13657	2.57	5.45	-10.9	0.00192	Fibronectin, type III (2);	.	.	.	.	T	0.00012	0.0000	N	0.17082	0.46	0.21184	P	0.999766262	B	0.13145	0.007	B	0.11329	0.006	T	0.47535	-0.9110	8	0.02654	T	1	.	1.7439	0.02958	0.2538:0.0802:0.3284:0.3375	rs4752904;rs17789721;rs52831595;rs56898824;rs4752904	872	Q12913	PTPRJ_HUMAN	D	872	ENSP00000400010:E872D	ENSP00000400010:E872D	E	+	3	2	PTPRJ	48122843	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-4.356000	0.00247	-2.555000	0.00477	-0.911000	0.02809	GAG	G|0.569;C|0.431		0.403	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			C	48166267	G	C	48166267	3	2	60	1	0	0	0	0	1	0	0	0	12849	991	35	3	2675	3	PTPRJ	11	48166267	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	44321111	48166267	86840249	27	12275											
ATN1	1822	hgsc.bcm.edu;ucsc.edu	37	chr12	7045900	7045900	+	Silent	SNP	G	G	A													cagcaacagcaacagcagcaGcagcagcagcagcagcagca					rs377147612|rs60216939		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:7045900G>A	ENST00000356654.4	+	5	1707	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	ATN1_ENST00000396684.2_Silent_p.Q490Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	490	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						aacagcagcagcagcagcagc	0.642																																					p.Q490Q		.											.	ATN1-139	0			c.G1470A						.						50	62	58					12																	7045900		2202	4291	6493	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1470G>A	12.37:g.7045900G>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	209	18	NM_001007026	0	0	247	252	5	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			G|0.985;A|0.015		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045900	G	A	7045900	2	1	60	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045900	Silent	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		7045900	126805995	28	12276	120	2	1	57		3	2	25	N	G	3.721252e-05
ATN1	1822	ucsc.edu	37	chr12	7045906	7045906	+	Silent	SNP	G	G	A													cagcaacagcagcagcagcaGcagcagcagcagcagcagca					rs377147612		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:7045906G>A	ENST00000356654.4	+	5	1713	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	ATN1_ENST00000396684.2_Silent_p.Q492Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	492	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.647																																					p.Q492Q		.											.	ATN1-139	0			c.G1476A						.						43	53	49					12																	7045906		2188	4263	6451	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1476G>A	12.37:g.7045906G>A		Somatic	98	0		WXS	Illumina GAIIx	Phase_I	195	27	NM_001007026	0	0	361	364	3	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.		0.647	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045906	G	A	7045906	2	1	60	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045906	Silent	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	6	7045906	126805989	29	12277	120	2	1	57		3	2	25	N	G	3.721252e-05
ATN1	1822	hgsc.bcm.edu	37	chr12	7045924	7045924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcatcacgg	13	14	1	0	rs199988271		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:7045924G>T	ENST00000356654.4	+	5	1731	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q498H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	498	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.637																																					p.Q498H		.											.	ATN1-139	0			c.G1494T						.						43	53	49					12																	7045924		2201	4297	6498	SO:0001583	missense	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1494G>T	12.37:g.7045924G>T	ENSP00000349076:p.Gln498His	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	194	20	NM_001007026	0	0	344	344	0	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.273578	0.00257	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	1.44	-2.88	0.05682	.	.	.	.	.	T	0.24392	0.0591	N	0.22421	0.69	0.09310	N	1	P	0.40970	0.734	B	0.30401	0.115	T	0.19353	-1.0308	9	0.17832	T	0.49	.	3.3676	0.07208	0.2981:0.2446:0.4573:0.0	.	498	P54259	ATN1_HUMAN	H	498;498;498;83	ENSP00000349076:Q498H;ENSP00000379915:Q498H;ENSP00000441744:Q498H	ENSP00000229279:Q83H	Q	+	3	2	ATN1	6916185	0.175000	0.23083	0.269000	0.24586	0.334000	0.28698	-0.489000	0.06490	-0.760000	0.04677	0.109000	0.15622	CAG	G|0.999;A|0.001		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045924	G	T	7045924	3	4	60	1	0	0	0	0	1	0	0	0	1112	962	34	3	1508	3	ATN1	12	7045924	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	18	7045924	126805971	30	12278			1	57		3	2	25	N	G	3.721252e-05
TAS2R46	259292	hgsc.bcm.edu	37	chr12	11214495	11214510	+	Frame_Shift_Del	DEL	TAGTATCACCAGAACA	TAGTATCACCAGAACA	-													aaaaatagcaaaggccccaaTagtatcaccagaacaacact					rs537338046|rs200321584	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	TAGTATCACCAGAACA	TAGTATCACCAGAACA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:11214495_11214510delTAGTATCACCAGAACA	ENST00000533467.1	-	1	383_398	c.384_399delTGTTCTGGTGATACTA	c.(382-399)gttgttctggtgatactafs	p.VVLVIL128fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	128					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGGCCCCAATAGTATCACCAGAACAACACTCTTAA	0.356																																					p.128_133del		.											.	TAS2R46-1	0			c.384_399del						.																																			SO:0001589	frameshift_variant	259292	exon1			CCCCAATAGTATC	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.384_399delTGTTCTGGTGATACTA	12.37:g.11214495_11214510delTAGTATCACCAGAACA	ENSP00000436450:p.Val128fs	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	231	0	NM_176887	0	0	0	0	0	P59548|Q645X6	Frame_Shift_Del	DEL	ENST00000533467.1	37	CCDS53748.1																																																																																			.		0.356	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		-	11214510	TAGTATCACCAGAACA	-	11214495	7	5	60	1	0	1	0	1	0	0	0	0	15629	1393	49	0	534	0	TAS2R46	12	11214495	Frame_Shift_Del	DEL	TAGTATCACCAGAACA	TCGA-PA-A5YG-01A-11D-A29I-10	4168571	11214495	122637400	31	12279											
DIP2B	57609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	51072495	51072495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaccagcccaagccggAgggacggcagatgacccctg	12	17	0	2			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:51072495A>G	ENST00000301180.5	+	8	984	c.950A>G	c.(949-951)gAg>gGg	p.E317G		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	317						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCAAGCCGGAGGGACGGCAG	0.517																																					p.E317G		.											.	DIP2B-95	0			c.A950G						.						76	72	73					12																	51072495		2203	4300	6503	SO:0001583	missense	57609	exon8			AGCCGGAGGGACG	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.950A>G	12.37:g.51072495A>G	ENSP00000301180:p.Glu317Gly	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	240	25	NM_173602	0	0	10	12	2	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770898	0.90108	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.39406	1.08	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72007	-0.4420	10	0.87932	D	0	-19.5995	14.6888	0.69068	1.0:0.0:0.0:0.0	.	317;327	Q9P265;E9PHD6	DIP2B_HUMAN;.	G	327;317	ENSP00000301180:E317G	ENSP00000301180:E317G	E	+	2	0	DIP2B	49358762	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.087000	0.94110	2.117000	0.64856	0.383000	0.25322	GAG	.		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51072495	A	G	51072495	3	3	60	1	0	0	0	0	1	0	0	0	4542	304	11	4	980	4	DIP2B	12	51072495	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10	39858000	51072495	82779400	32	12280											
WSCD2	9671	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	108589790	108589790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcccagctgagGgtgctgagctgtccttcttg	15	11	1	2			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:108589790G>T	ENST00000332082.4	+	3	999	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	WSCD2_ENST00000549903.1_Missense_Mutation_p.G61C|WSCD2_ENST00000261400.3_Missense_Mutation_p.G61C|WSCD2_ENST00000547525.1_Missense_Mutation_p.G61C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	61						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCCAGCTGAGGGTGCTGAGCT	0.617																																					p.G61C		.											.	WSCD2-136	0			c.G181T						.						126	130	129					12																	108589790		2065	4204	6269	SO:0001583	missense	9671	exon2			GCTGAGGGTGCTG		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.181G>T	12.37:g.108589790G>T	ENSP00000331933:p.Gly61Cys	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	339	74	NM_014653	0	0	1	1	0	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264650	0.40095	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.32753	1.45;1.44;1.45;1.44	5.74	5.74	0.90152	.	0.049620	0.85682	D	0.000000	T	0.42154	0.1190	M	0.62723	1.935	0.32805	D	0.500642	D	0.58620	0.983	P	0.47206	0.541	T	0.56733	-0.7930	10	0.72032	D	0.01	-15.4019	18.8897	0.92395	0.0:0.0:1.0:0.0	.	61	Q2TBF2	WSCD2_HUMAN	C	61	ENSP00000448047:G61C;ENSP00000261400:G61C;ENSP00000331933:G61C;ENSP00000447272:G61C	ENSP00000261400:G61C	G	+	1	0	WSCD2	107113920	1.000000	0.71417	0.269000	0.24586	0.002000	0.02628	5.354000	0.66040	2.704000	0.92352	0.655000	0.94253	GGT	.		0.617	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		T	108589790	G	T	108589790	3	4	60	1	0	0	0	0	1	0	0	0	17456	1232	43	3	183	3	WSCD2	12	108589790	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	57517295	108589790	25262105	33	12281											
TAOK3	51347	broad.mit.edu	37	chr12	118610311	118610311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcttgatcattattttcCgcttgaagaaacgacaattt	7	9	1	3			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr12:118610311C>T	ENST00000392533.3	-	17	2340	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	TAOK3_ENST00000537952.1_Missense_Mutation_p.R157Q|TAOK3_ENST00000419821.2_Missense_Mutation_p.R617Q	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	617					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)					CATTATTTTCCGCTTGAAGAA	0.433																																					p.R617Q		.											.	TAOK3-933	0			c.G1850A						.						268	230	243					12																	118610311		2203	4300	6503	SO:0001583	missense	51347	exon17			ATTTTCCGCTTGA	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.1850G>A	12.37:g.118610311C>T	ENSP00000376317:p.Arg617Gln	Somatic	264	0		WXS	Illumina GAIIx	Phase_I	494	10	NM_016281	0	0	54	56	2	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	c	32	5.142701	0.94560	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.50548	0.74;0.74;0.74	4.58	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.82193	2.58	0.58432	D	0.999999	P	0.46578	0.88	P	0.45474	0.482	T	0.65981	-0.6036	10	0.56958	D	0.05	.	14.1756	0.65539	0.151:0.849:0.0:0.0	.	617	Q9H2K8	TAOK3_HUMAN	Q	617;617;157;237	ENSP00000416374:R617Q;ENSP00000376317:R617Q;ENSP00000443834:R157Q	ENSP00000352863:R237Q	R	-	2	0	TAOK3	117094694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.891000	0.69782	1.247000	0.43917	0.651000	0.88453	CGG	.		0.433	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		T	118610311	C	T	118610311	3	4	60	1	0	0	0	0	1	0	0	0	15596	652	23	1	866	1	TAOK3	12	118610311	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	10020521	118610311	15241584	34	12282											
RNF17	56163	broad.mit.edu	37	chr13	25367256	25367256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaggaactttcttgttacGatacatacccaccgctagaa	6	10	1	1	rs572750591		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr13:25367256G>T	ENST00000255324.5	+	10	1064	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y	RNF17_ENST00000381921.1_Missense_Mutation_p.D338Y|RNF17_ENST00000255325.6_Missense_Mutation_p.D338Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	338					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCTTGTTACGATACATACCC	0.343																																					p.D338Y		.											.	RNF17-228	0			c.G1012T						.						136	133	134					13																	25367256		2203	4300	6503	SO:0001583	missense	56163	exon10			TGTTACGATACAT	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1012G>T	13.37:g.25367256G>T	ENSP00000255324:p.Asp338Tyr	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	126	3	NM_001184993	0	0	0	0	0	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	9.650	1.141351	0.21205	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.32272	2.58;2.6;1.46	5.07	3.33	0.38152	.	0.281525	0.30611	N	0.009250	T	0.38639	0.1048	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	0.99;0.99;1.0	P;P;D	0.76575	0.706;0.706;0.988	T	0.08638	-1.0712	10	0.59425	D	0.04	.	6.8838	0.24189	0.0933:0.1763:0.7303:0.0	.	338;338;338	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	Y	338;338;197;339;338	ENSP00000255324:D338Y;ENSP00000371346:D338Y;ENSP00000255325:D339Y	ENSP00000255324:D338Y	D	+	1	0	RNF17	24265256	0.042000	0.20092	0.003000	0.11579	0.001000	0.01503	1.518000	0.35877	0.723000	0.32274	-0.142000	0.14014	GAT	.		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25367256	G	T	25367256	3	4	60	1	0	0	0	0	1	0	0	0	13506	1058	37	2	1050	2	RNF17	13	25367256	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		25367256	89802622	35	12283											
FRY	10129	bcgsc.ca	37	chr13	32811974	32811974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttgagaaactccaggCacagctgaagtgggccgact	12	10	0	2	rs73169136	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr13:32811974C>T	ENST00000380250.3	+	44	6765	c.6269C>T	c.(6268-6270)gCa>gTa	p.A2090V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2090						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)		AAACTCCAGGCACAGCTGAAG	0.527													C|||	39	0.00778754	0	0.0346	5008	,	,		18641	0		0.0129	False		,,,				2504	0.002				p.A2090V		.											.	FRY-142	0			c.C6269T						.	C	VAL/ALA	6,3982		0,6,1988	61	65	63		6269	4.3	0.9	13	dbSNP_130	63	95,8227		0,95,4066	yes	missense	FRY	NM_023037.2	64	0,101,6054	TT,TC,CC		1.1416,0.1505,0.8205	benign	2090/3014	32811974	101,12209	1994	4161	6155	SO:0001583	missense	10129	exon44			TCCAGGCACAGCT	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.6269C>T	13.37:g.32811974C>T	ENSP00000369600:p.Ala2090Val	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	211	7	NM_023037	0	0	10	10	0	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	24	0.01098901098901099	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	10	0.013192612137203167	C	15.28	2.786075	0.49997	0.001505	0.011416	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23950	1.88	6.03	4.26	0.50523	.	0.390654	0.30850	N	0.008748	T	0.07234	0.0183	L	0.50333	1.59	0.80722	D	1	B	0.11235	0.004	B	0.19666	0.026	T	0.02805	-1.1108	10	0.52906	T	0.07	.	16.0022	0.80301	0.0:0.623:0.377:0.0	.	2090	Q5TBA9	FRY_HUMAN	V	2090;927	ENSP00000369600:A2090V	ENSP00000369600:A2090V	A	+	2	0	FRY	31709974	0.424000	0.25490	0.926000	0.36857	0.984000	0.73092	0.907000	0.28531	1.543000	0.49345	0.655000	0.94253	GCA	C|0.990;T|0.010		0.527	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32811974	C	T	32811974	3	4	60	1	0	0	0	0	1	0	0	0	6087	710	25	3	6443	3	FRY	13	32811974	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	7444718	32811974	82357904	36	12284											
RNASE4	6038	bcgsc.ca	37	chr14	21167576	21167576	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgcttttgctgctgAccctgctggggctggggctg	15	11	1	1	rs3748338	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr14:21167576A>T	ENST00000555835.1	+	2	722	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.T16S|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Missense_Mutation_p.T16S|RNASE4_ENST00000397995.2_Missense_Mutation_p.T16S	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	16			T -> S (in dbSNP:rs3748338).		cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TTTGCTGCTGACCCTGCTGGG	0.562													A|||	639	0.127596	0.0068	0.1023	5008	,	,		19999	0.1935		0.1431	False		,,,				2504	0.2249				p.T16S	Esophageal Squamous(59;1059 1362 26290 51151)	.											.	RNASE4-514	0			c.A46T						.	A	SER/THR,SER/THR	141,4265	95.7+/-134.4	3,135,2065	97	94	95		46,46	4.1	1	14	dbSNP_107	95	1256,7344	245.3+/-274.2	82,1092,3126	yes	missense,missense	RNASE4	NM_002937.3,NM_194431.1	58,58	85,1227,5191	TT,TA,AA		14.6047,3.2002,10.7412	possibly-damaging,possibly-damaging	16/148,16/148	21167576	1397,11609	2203	4300	6503	SO:0001583	missense	6038	exon2			CTGCTGACCCTGC	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"Ribonucleases, RNase A"	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.46A>T	14.37:g.21167576A>T	ENSP00000452245:p.Thr16Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	57	4	NM_002937	0	0	2	2	0		Missense_Mutation	SNP	ENST00000555835.1	37	CCDS9555.1	257	0.11767399267399267	4	0.008130081300813009	36	0.09944751381215469	109	0.19055944055944055	108	0.1424802110817942	A	19.15	3.772011	0.69992	0.032002	0.146047	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.24	4.12	0.48240	Ribonuclease A, domain (1);	0.641420	0.15716	N	0.248145	T	0.00300	0.0009	L	0.46157	1.445	0.43835	P	0.0035809999999999453	D	0.54772	0.968	P	0.45856	0.495	T	0.32929	-0.9888	9	0.87932	D	0	-15.0045	6.9947	0.24777	0.9021:0.0:0.0979:0.0	rs3748338;rs17242797;rs52831469;rs3748338	16	P34096	RNAS4_HUMAN	S	16	ENSP00000452245:T16S;ENSP00000381081:T16S;ENSP00000451624:T16S;ENSP00000381087:T16S;ENSP00000307096:T16S;ENSP00000381085:T16S	ENSP00000307096:T16S	T	+	1	0	AL163636.2;RNASE4	20237416	0.998000	0.40836	0.999000	0.59377	0.879000	0.50718	0.755000	0.26405	2.285000	0.76669	0.533000	0.62120	ACC	A|0.887;N|0.000		0.562	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			T	21167576	A	T	21167576	3	4	60	1	0	0	0	0	1	0	0	0	13451	275	10	5	48	5	RNASE4	14	21167576	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10		21167576	86181964	37	12285											
KREMEN2	79412	hgsc.bcm.edu	37	chr16	3017992	3017992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctccagccagagcTccctgcgctcgctcatctcc	9	18	2	2			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr16:3017992T>C	ENST00000303746.5	+	9	1937	c.1360T>C	c.(1360-1362)Tcc>Ccc	p.S454P	KREMEN2_ENST00000575769.1_3'UTR|KREMEN2_ENST00000575885.1_3'UTR|PAQR4_ENST00000293978.8_5'Flank|PAQR4_ENST00000574988.1_5'Flank|KREMEN2_ENST00000571007.1_Missense_Mutation_p.S415P|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000576565.1_5'Flank|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000319500.6_3'UTR|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000572045.1_3'UTR			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	454					Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CAGCCAGAGCTCCCTGCGCTC	0.726																																					p.S454P		.											.	KREMEN2-659	0			c.T1360C						.						6	8	7					16																	3017992		2141	4223	6364	SO:0001583	missense	79412	exon9			CAGAGCTCCCTGC	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.1360T>C	16.37:g.3017992T>C	ENSP00000304422:p.Ser454Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_172229	0	0	1	4	3	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032151	0.35893	.	.	ENSG00000131650	ENST00000303746	T	0.63417	-0.04	5.02	5.02	0.67125	.	0.000000	0.40640	U	0.001060	T	0.62514	0.2434	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.56278	0.795;0.795	T	0.66646	-0.5871	10	0.87932	D	0	.	11.1287	0.48334	0.0:0.0:0.0:1.0	.	415;454	B4DXF6;Q8NCW0	.;KREM2_HUMAN	P	454	ENSP00000304422:S454P	ENSP00000304422:S454P	S	+	1	0	KREMEN2	2957993	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	1.265000	0.33027	1.898000	0.54952	0.448000	0.29417	TCC	.		0.726	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		C	3017992	T	C	3017992	3	2	60	1	0	0	0	0	1	0	0	0	8470	1551	54	4	1394	4	KREMEN2	16	3017992	Missense_Mutation	SNP	T	TCGA-PA-A5YG-01A-11D-A29I-10		3017992	87336761	38	12286											
SEZ6L2	26470	hgsc.bcm.edu;ucsc.edu	37	chr16	29884982	29884982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactggacgtgggagccaaCggggaagccggcgtccgagg	19	10	0	0	rs146085461		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr16:29884982C>T	ENST00000308713.5	-	13	2700	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.V655I|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.V681I|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.V611I	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	725	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGCCAACGGGGAAGCCG	0.662																																					p.V725I		.											.	SEZ6L2-92	0			c.G2173A						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4393	2.1+/-5.4	0,1,2196	38	38	38		1963,1831,1963,2173	3.6	1	16	dbSNP_134	38	0,8600		0,0,4300	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	29,29,29,29	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign,benign	655/841,611/810,655/854,725/911	29884982	1,12993	2197	4300	6497	SO:0001583	missense	26470	exon13			AGCCAACGGGGAA	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2173G>A	16.37:g.29884982C>T	ENSP00000312550:p.Val725Ile	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	117	53	NM_001243332	0	0	9	38	29	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215009	0.39102	2.28E-4	0.0	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.67	3.6	0.41247	Complement control module (2);Sushi/SCR/CCP (3);	0.168473	0.27861	N	0.017541	T	0.47340	0.1440	L	0.41961	1.31	0.47153	D	0.999331	B;B;B;B;B;B	0.23937	0.094;0.006;0.01;0.009;0.006;0.011	B;B;B;B;B;B	0.20577	0.03;0.004;0.008;0.004;0.004;0.006	T	0.51450	-0.8704	10	0.48119	T	0.1	.	3.6333	0.08140	0.0:0.6245:0.0:0.3755	.	681;725;611;655;725;655	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	I	655;725;611;681	ENSP00000310206:V655I;ENSP00000312550:V725I;ENSP00000319215:V611I;ENSP00000439412:V681I	ENSP00000312550:V725I	V	-	1	0	SEZ6L2	29792483	0.935000	0.31712	0.996000	0.52242	0.938000	0.57974	1.893000	0.39758	2.138000	0.66242	0.655000	0.94253	GTT	C|1.000;T|0.000		0.662	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29884982	C	T	29884982	3	4	60	1	0	0	0	0	1	0	0	0	14189	536	19	1	622	1	SEZ6L2	16	29884982	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	26866990	29884982	60469771	39	12287											
DHODH	1723	bcgsc.ca	37	chr16	72042682	72042682	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgtggagacacctgAaagtgagtcccgcgagtgag	16	9	0	4	rs3213422	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr16:72042682A>C	ENST00000219240.4	+	1	40	c.19A>C	c.(19-21)Aaa>Caa	p.K7Q	DHODH_ENST00000572887.1_Missense_Mutation_p.K7Q	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	7			K -> Q (in dbSNP:rs3213422). {ECO:0000269|PubMed:1446837, ECO:0000269|PubMed:14702039}.		'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GAGACACCTGAAAGTGAGTCC	0.657													A|||	2825	0.564097	0.5204	0.6441	5008	,	,		16500	0.7381		0.4901	False		,,,				2504	0.4632				p.K7Q		.											.	DHODH-227	0			c.A19C						.	A	GLN/LYS	2268,1612		715,838,387	31	37	35		19	2.9	1	16	dbSNP_106	35	4234,3824		1200,1834,995	yes	missense	DHODH	NM_001361.4	53	1915,2672,1382	CC,CA,AA		47.4559,41.5464,45.5353	benign	7/396	72042682	6502,5436	1940	4029	5969	SO:0001583	missense	1723	exon1			CACCTGAAAGTGA		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.19A>C	16.37:g.72042682A>C	ENSP00000219240:p.Lys7Gln	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	493	11	NM_001361	0	0	0	0	0	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	1246	0.5705128205128205	237	0.4817073170731707	219	0.6049723756906077	413	0.722027972027972	377	0.4973614775725594	A	11.65	1.702177	0.30232	0.584536	0.525441	ENSG00000102967	ENST00000219240	D	0.85013	-1.93	4.01	2.88	0.33553	.	0.499875	0.21331	N	0.076300	T	0.00012	0.0000	L	0.48642	1.525	0.39894	P	0.02618699999999996	B	0.09022	0.002	B	0.10450	0.005	T	0.46233	-0.9206	9	0.30078	T	0.28	-4.161	7.4494	0.27229	0.7786:0.2214:0.0:0.0	rs3213422;rs17665243;rs52805696;rs61491058;rs3213422	7	Q02127	PYRD_HUMAN	Q	7	ENSP00000219240:K7Q	ENSP00000219240:K7Q	K	+	1	0	DHODH	70600183	0.938000	0.31826	0.995000	0.50966	0.471000	0.32888	1.402000	0.34600	0.851000	0.35264	0.472000	0.43445	AAA	A|0.433;C|0.567		0.657	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		C	72042682	A	C	72042682	3	2	60	1	0	0	0	0	1	0	0	0	4498	247	9	5	21	5	DHODH	16	72042682	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10	42157700	72042682	18312071	40	12288											
TBC1D26	353149	broad.mit.edu	37	chr17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgtctcaaagagtatAcaaagtcattcccctggcgg	10	10	2	1	rs202131240		TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr17:15641610A>G	ENST00000437605.2	+	7	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	99							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527																																					p.Y99C		.											.	TBC1D26-90	0			c.A296G						.						94	90	91					17																	15641610		1953	4139	6092	SO:0001583	missense	353149	exon7			GAGTATACAAAGT		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.296A>G	17.37:g.15641610A>G	ENSP00000410111:p.Tyr99Cys	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	208	4	NM_178571	0	0	0	0	0	A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	6.884	0.532498	0.13127	.	.	ENSG00000214946	ENST00000437605	T	0.40756	1.02	1.44	-0.0271	0.13927	Rab-GAP/TBC domain (2);	0.436109	0.22940	U	0.053784	T	0.48943	0.1528	L	0.58583	1.82	0.19945	N	0.999948	D;D	0.76494	0.999;0.981	D;D	0.67231	0.95;0.914	T	0.36601	-0.9741	10	0.52906	T	0.07	.	3.1782	0.06576	0.6204:0.0:0.0:0.3796	.	99;99	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	99	ENSP00000410111:Y99C	ENSP00000410111:Y99C	Y	+	2	0	TBC1D26	15582335	0.952000	0.32445	0.008000	0.14137	0.029000	0.11900	1.676000	0.37565	-0.258000	0.09446	0.338000	0.21704	TAC	.		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		G	15641610	A	G	15641610	3	3	60	1	0	0	0	0	1	0	0	0	15663	391	14	4	314	4	TBC1D26	17	15641610	Missense_Mutation	SNP	A	TCGA-PA-A5YG-01A-11D-A29I-10		15641610	65553600	41	12289											
KRT12	3859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39021191	39021191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggcctctacgccctggCgcagggccagttcattctca	11	15	3	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr17:39021191C>T	ENST00000251643.4	-	3	697	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	225	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACGCCCTGGCGCAGGGCCAG	0.557																																					p.R225H		.											.	KRT12-91	0			c.G674A						.						70	70	70					17																	39021191		2203	4300	6503	SO:0001583	missense	3859	exon3			CCCTGGCGCAGGG		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.674G>A	17.37:g.39021191C>T	ENSP00000251643:p.Arg225His	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	131	56	NM_000223	0	0	0	0	0	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267188	0.23136	.	.	ENSG00000187242	ENST00000251643	D	0.91945	-2.94	5.96	1.16	0.20824	Filament (1);	0.548852	0.16745	N	0.201287	D	0.89681	0.6785	M	0.85462	2.755	0.40623	D	0.981787	B	0.27951	0.195	B	0.22386	0.039	T	0.82596	-0.0379	10	0.29301	T	0.29	.	5.9905	0.19458	0.1281:0.6352:0.0:0.2367	.	225	Q99456	K1C12_HUMAN	H	225	ENSP00000251643:R225H	ENSP00000251643:R225H	R	-	2	0	KRT12	36274717	0.010000	0.17322	0.143000	0.22291	0.254000	0.26022	0.490000	0.22403	0.289000	0.22422	0.655000	0.94253	CGC	.		0.557	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		T	39021191	C	T	39021191	3	4	60	1	0	0	0	0	1	0	0	0	8476	768	27	1	834	1	KRT12	17	39021191	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	23379581	39021191	42174019	42	12290											
KLHL10	317719	broad.mit.edu;bcgsc.ca	37	chr17	40004254	40004254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtggctaacacttggCgcacaatccccactatgttt	8	14	0	0			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr17:40004254C>T	ENST00000293303.4	+	5	1675	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	508					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TAACACTTGGCGCACAATCCC	0.493																																					p.R508C		.											.	KLHL10-227	0			c.C1522T						.						130	124	126					17																	40004254		1965	4155	6120	SO:0001583	missense	317719	exon5			ACTTGGCGCACAA	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1522C>T	17.37:g.40004254C>T	ENSP00000293303:p.Arg508Cys	Somatic	323	1		WXS	Illumina GAIIx	Phase_I	393	9	NM_152467	0	0	0	0	0	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673695	0.47781	.	.	ENSG00000161594	ENST00000293303	T	0.79454	-1.27	5.98	5.98	0.97165	Galactose oxidase, beta-propeller (1);	0.275753	0.41396	D	0.000894	D	0.85150	0.5631	L	0.61218	1.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.84074	0.0381	9	.	.	.	.	13.9226	0.63942	0.1521:0.8479:0.0:0.0	.	508	Q6JEL2	KLH10_HUMAN	C	508	ENSP00000293303:R508C	.	R	+	1	0	KLHL10	37257780	0.949000	0.32298	1.000000	0.80357	0.974000	0.67602	0.595000	0.24029	2.838000	0.97847	0.591000	0.81541	CGC	.		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		T	40004254	C	T	40004254	3	4	60	1	0	0	0	0	1	0	0	0	8393	768	27	1	1540	1	KLHL10	17	40004254	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	983063	40004254	41190956	43	12291											
ENOSF1	55556	broad.mit.edu	37	chr18	683362	683362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcaggcacatcccagcGctggttggcatccatcatct	9	16	3	0	rs142662421	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr18:683362G>A	ENST00000251101.7	-	11	848	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	ENOSF1_ENST00000319815.6_Missense_Mutation_p.R24C|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R275C|ENOSF1_ENST00000383578.3_Missense_Mutation_p.R172C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.R178C	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	254					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						ACATCCCAGCGCTGGTTGGCA	0.582																																					p.R275C		.											.	ENOSF1-91	0			c.C823T						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	102	89	94		514,760,823	4.8	1	18	dbSNP_134	94	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense	ENOSF1	NM_001126123.3,NM_017512.5,NM_202758.3	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	172/362,254/444,275/451	683362	4,13002	2203	4300	6503	SO:0001583	missense	55556	exon11			CCCAGCGCTGGTT	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.760C>T	18.37:g.683362G>A	ENSP00000251101:p.Arg254Cys	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	252	5	NM_202758	0	0	37	37	0	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540647	0.45280	0.0	4.65E-4	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.68	4.81	0.61882	Mandelate racemase/muconate lactonizing enzyme, conserved site (1);Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.100716	0.64402	D	0.000003	T	0.40498	0.1119	M	0.78637	2.42	0.80722	D	1	B;B;P;B;B	0.39181	0.276;0.047;0.663;0.078;0.146	B;B;B;B;B	0.25987	0.065;0.026;0.06;0.026;0.024	T	0.39440	-0.9614	10	0.36615	T	0.2	.	7.3827	0.26864	0.0797:0.0:0.6585:0.2618	.	275;73;299;254;172	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	C	172;24;254;275	ENSP00000373072:R172C;ENSP00000313346:R24C;ENSP00000251101:R254C;ENSP00000345974:R275C	ENSP00000251101:R254C	R	-	1	0	ENOSF1	673362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.139000	0.42149	1.396000	0.46663	0.585000	0.79938	CGC	G|0.999;A|0.001		0.582	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		A	683362	G	A	683362	3	1	60	1	0	0	0	0	1	0	0	0	5141	1087	38	1	595	1	ENOSF1	18	683362	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10		683362	77393886	44	12292											
SMTN	6525	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	31495743	31495743	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatagcacgtcgacatcCagaacttctcctccagctgg	8	14	1	1			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr22:31495743C>T	ENST00000347557.2	+	19	2682	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*	SMTN_ENST00000333137.7_Nonsense_Mutation_p.Q822*|SMTN_ENST00000358743.1_Nonsense_Mutation_p.Q822*|SMTN_ENST00000404574.1_Nonsense_Mutation_p.Q345*	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	822	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CGTCGACATCCAGAACTTCTC	0.567																																					p.Q907X		.											.	SMTN-154	0			c.C2719T						.						143	104	117					22																	31495743		2203	4300	6503	SO:0001587	stop_gained	6525	exon20			GACATCCAGAACT	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2464C>T	22.37:g.31495743C>T	ENSP00000328635:p.Gln822*	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	150	8	NM_001207017	0	0	1	1	0	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Nonsense_Mutation	SNP	ENST00000347557.2	37	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	41	9.100588	0.99066	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000404574;ENST00000403419	.	.	.	5.17	5.17	0.71159	.	0.000000	0.35936	N	0.002883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.157	19.0644	0.93104	0.0:1.0:0.0:0.0	.	.	.	.	X	822;822;822;820;845;345;202	.	ENSP00000329393:Q820X	Q	+	1	0	SMTN	29825743	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.673000	0.61604	2.600000	0.87896	0.650000	0.86243	CAG	.		0.567	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		T	31495743	C	T	31495743	4	4	60	1	0	0	0	0	0	1	0	0	14859	595	21	3	2534	3	SMTN	22	31495743	Nonsense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10		31495743	19808823	45	12293											
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37462261	37462261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgccttgcacaccagCggaccacctgagtcaccctg	10	16	1	2			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chr22:37462261C>T	ENST00000346753.3	-	18	2411	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	TMPRSS6_ENST00000406856.1_Silent_p.P778P|TMPRSS6_ENST00000381792.2_Silent_p.P778P|TMPRSS6_ENST00000406725.1_Silent_p.P756P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	765	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		P -> A (in IRIDA; severely reduced proteolytic processing; loss of activity). {ECO:0000269|PubMed:22581667}.		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						TGCACACCAGCGGACCACCTG	0.617																																					p.P765P		.											.	TMPRSS6-292	0			c.G2295A						.						25	25	25					22																	37462261		2203	4299	6502	SO:0001819	synonymous_variant	164656	exon18			CACCAGCGGACCA	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.2295G>A	22.37:g.37462261C>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	185	47	NM_153609	0	0	0	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			.		0.617	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37462261	C	T	37462261	2	4	60	1	0	0	0	0	0	0	0	1	16298	755	27	1		1	TMPRSS6	22	37462261	Silent	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	5966518	37462261	13842305	46	12294											
TNMD	64102	broad.mit.edu	37	chrX	99854070	99854070	+	Frame_Shift_Del	DEL	A	A	-													tcttcactttcctgccaacgAaaaaaaagggattgaacaaa							TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chrX:99854070delA	ENST00000373031.4	+	6	852	c.635delA	c.(634-636)gaafs	p.E212fs		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	212					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCTGCCAACGAAAAAAAAGGG	0.418																																					p.E212fs		.											.	TNMD-130	0			c.635delA						.						73	60	64					X																	99854070		2203	4300	6503	SO:0001589	frameshift_variant	64102	exon6			CCAACGAAAAAAA	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.635delA	X.37:g.99854070delA	ENSP00000362122:p.Glu212fs	Somatic	226	0		WXS	Illumina GAIIx	Phase_I	458	7	NM_022144	0	0	0	0	0	Q9HBX0|Q9UJG0	Frame_Shift_Del	DEL	ENST00000373031.4	37	CCDS14469.1																																																																																			.		0.418	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		-	99854070	A	-	99854070	7	5	60	1	0	1	0	1	0	0	0	0	16369	246	9	0	657	0	TNMD	23	99854070	Frame_Shift_Del	DEL	A	TCGA-PA-A5YG-01A-11D-A29I-10		99854070	55416490	47	12295											
CAPN6	827	bcgsc.ca	37	chrX	110494841	110494841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggcgaaccatatacaCcttctcagcactgaagactt	6	13	2	2	rs12013711	byFrequency	TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chrX:110494841C>G	ENST00000324068.1	-	6	996	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	CAPN6_ENST00000541758.1_Missense_Mutation_p.V22L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	277	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		V -> L (in dbSNP:rs12013711). {ECO:0000269|Ref.4}.		microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACCATATACACCTTCTCAGCA	0.478													G|||	740	0.196026	0.5083	0.0605	3775	,	,		14134	0.002		0.0239	False		,,,				2504	0				p.V277L		.											.	CAPN6-195	0			c.G829C						.	G	LEU/VAL	2345,1490		605,789,346,238,225	253	254	254		829	5.3	1	X	dbSNP_120	254	211,6517		4,155,48,2269,1824	yes	missense	CAPN6	NM_014289.3	32	609,944,394,2507,2049	GG,GC,G,CC,C		3.1361,38.8527,24.1977	benign	277/642	110494841	2556,8007	2203	4300	6503	SO:0001583	missense	827	exon6			TATACACCTTCTC	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.829G>C	X.37:g.110494841C>G	ENSP00000317214:p.Val277Leu	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	288	8	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	288	0.1735985533453888	171	0.5181818181818182	16	0.04519774011299435	0	0.0	12	0.016	G	4.454	0.084028	0.08583	0.611473	0.031361	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.41758	0.99;2.39	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.137951	0.49916	N	0.000139	T	0.00012	0.0000	N	0.04768	-0.165	0.58432	P	9.000000000036756E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	9	0.02654	T	1	.	11.5044	0.50456	0.0682:0.1227:0.8091:0.0	rs12013711;rs17880204;rs52812550;rs56633453;rs60491464;rs12013711	277	Q9Y6Q1	CAN6_HUMAN	L	277;22	ENSP00000317214:V277L;ENSP00000441736:V22L	ENSP00000317214:V277L	V	-	1	0	CAPN6	110381497	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.455000	0.44988	0.729000	0.32403	-0.170000	0.13304	GTG	C|0.723;0|0.021		0.478	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			G	110494841	C	G	110494841	3	3	60	1	0	0	0	0	1	0	0	0	2637	507	18	3	1128	3	CAPN6	23	110494841	Missense_Mutation	SNP	C	TCGA-PA-A5YG-01A-11D-A29I-10	10640771	110494841	44775719	48	12296											
PGRMC1	10857	broad.mit.edu	37	chrX	118370384	118370384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcgatctggagagcggcGggctgctgcatgagattttc	15	9	1	2			TCGA-PA-A5YG-01A-11D-A29I-10	TCGA-PA-A5YG-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	bc84db10-201a-4c8c-b43f-6a4557ecd98c	13f7f8b4-77e2-4100-b2fe-c35064ead1ea	g.chrX:118370384G>T	ENST00000217971.7	+	1	169	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.G20W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	20					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GGAGAGCGGCGGGCTGCTGCA	0.647																																					p.G20W		.											.	PGRMC1-130	0			c.G58T						.						33	28	29					X																	118370384		2195	4289	6484	SO:0001583	missense	10857	exon1			AGCGGCGGGCTGC		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.58G>T	X.37:g.118370384G>T	ENSP00000217971:p.Gly20Trp	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	139	5	NM_006667	0	0	43	43	0	B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117980	0.77323	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;T	0.79352	-1.2;-1.26	4.04	4.04	0.47022	.	0.058689	0.64402	D	0.000002	D	0.85173	0.5636	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.87043	0.2142	10	0.87932	D	0	0.0329	14.2902	0.66273	0.0:0.0:1.0:0.0	.	20;20	B7Z1L3;O00264	.;PGRC1_HUMAN	W	20	ENSP00000217971:G20W;ENSP00000442821:G20W	ENSP00000217971:G20W	G	+	1	0	PGRMC1	118254412	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	6.221000	0.72243	2.000000	0.58554	0.418000	0.28097	GGG	.		0.647	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		T	118370384	G	T	118370384	3	4	60	1	0	0	0	0	1	0	0	0	11845	1116	39	2	60	2	PGRMC1	23	118370384	Missense_Mutation	SNP	G	TCGA-PA-A5YG-01A-11D-A29I-10	7875543	118370384	36900176	49	12297											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941415	37941415	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccggacccctgccctcagctCcctctagtcccgcggggtgg	12	19	2	0			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:37941415C>G	ENST00000373087.6	+	2	434	c.318C>G	c.(316-318)ctC>ctG	p.L106L	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCTCAGCTCCCTCTAGTCC	0.662																																					p.L106L		.											.	ZC3H12A-92	0			c.C318G						.						26	27	27					1																	37941415		2202	4300	6502	SO:0001819	synonymous_variant	80149	exon2			TCAGCTCCCTCTA		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.318C>G	1.37:g.37941415C>G		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	72	3	NM_025079	0	0	3	3	0		Silent	SNP	ENST00000373087.6	37	CCDS417.1																																																																																			.		0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		G	37941415	C	G	37941415	2	3	61	1	0	0	0	0	0	0	0	1	17609	842	30	3		3	ZC3H12A	1	37941415	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		37941415	211309206	1	12298											
STIL	6491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	47746485	47746485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtcttataggatactcttCgttttgtacatttccagcag	9	8	2	0			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:47746485C>T	ENST00000360380.3	-	13	2008	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	STIL_ENST00000371877.3_Missense_Mutation_p.E549K|STIL_ENST00000337817.5_Missense_Mutation_p.E549K|STIL_ENST00000396221.2_Missense_Mutation_p.E549K|STIL_ENST00000243182.6_Missense_Mutation_p.E549K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	549					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)		p.E549K(1)		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)				GGATACTCTTCGTTTTGTACA	0.423																																					p.E549K		.											.	STIL-659	1	Substitution - Missense(1)	large_intestine(1)	c.G1645A						.						125	136	132					1																	47746485		2203	4300	6503	SO:0001583	missense	6491	exon12			ACTCTTCGTTTTG	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.1645G>A	1.37:g.47746485C>T	ENSP00000353544:p.Glu549Lys	Somatic	103	0		WXS	Illumina GAIIx	Phase_I	44	14	NM_003035	0	0	1	1	0	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	7.347	0.621994	0.14193	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	2.17;2.17;2.17;2.16;2.17;0.82	5.1	3.21	0.36854	.	0.485105	0.22993	N	0.053171	T	0.31575	0.0801	L	0.29908	0.895	0.33186	D	0.5502	B;B;B;B;B	0.13145	0.002;0.007;0.002;0.007;0.007	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.33828	-0.9853	10	0.13108	T	0.6	-11.92	10.5952	0.45333	0.0:0.7947:0.1329:0.0724	.	549;502;549;549;549	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	549;549;549;549;549;502	ENSP00000353544:E549K;ENSP00000337367:E549K;ENSP00000360944:E549K;ENSP00000379523:E549K;ENSP00000243182:E549K;ENSP00000411664:E502K	ENSP00000243182:E549K	E	-	1	0	STIL	47519072	1.000000	0.71417	0.826000	0.32828	0.098000	0.18820	2.775000	0.47702	0.538000	0.28769	-0.137000	0.14449	GAA	.		0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		T	47746485	C	T	47746485	3	4	61	1	0	0	0	0	1	0	0	0	15329	893	31	1	2245	1	STIL	1	47746485	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	9805070	47746485	201504136	2	12299											
ODF2L	57489	ucsc.edu	37	chr1	86836714	86836714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtacctttaattttgtaTtctcaagattcagagtttca	5	6	3	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:86836714T>C	ENST00000359242.3	-	10	1324	c.1043A>G	c.(1042-1044)aAt>aGt	p.N348S	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370567.1_Missense_Mutation_p.N348S|ODF2L_ENST00000394731.1_Missense_Mutation_p.N217S|ODF2L_ENST00000370566.3_Missense_Mutation_p.N348S|ODF2L_ENST00000317336.7_Missense_Mutation_p.N348S|ODF2L_ENST00000294678.2_Missense_Mutation_p.N348S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	348						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TAATTTTGTATTCTCAAGATT	0.308																																					p.N348S		.											.	ODF2L-69	0			c.A1043G						.						90	96	94					1																	86836714		2201	4295	6496	SO:0001583	missense	57489	exon10			TTTGTATTCTCAA		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1043A>G	1.37:g.86836714T>C	ENSP00000359600:p.Asn348Ser	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	38	4	NM_001007022	0	0	0	0	0	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.018224|4.018224	0.75275|0.75275	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890	.|T;T;T;T;T;T;T;T	.|0.76968	.|1.3;1.09;-1.06;1.16;1.47;1.54;-1.06;0.97	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.088332	.|0.85682	.|D	.|0.000000	T|T	0.80019|0.80019	0.4547|0.4547	M|M	0.68952|0.68952	2.095|2.095	0.43787|0.43787	D|D	0.99632|0.99632	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.998;1.0;1.0;0.998;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.996;0.994;0.999;0.998;0.994;0.998	T|T	0.78048|0.78048	-0.2356|-0.2356	5|10	.|0.10377	.|T	.|0.69	-20.8247|-20.8247	14.0682|14.0682	0.64844|0.64844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|348;348;348;348;348;348	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	V|S	197|348;348;348;224;348;348;217;348;178	.|ENSP00000359597:N348S;ENSP00000359600:N348S;ENSP00000433092:N224S;ENSP00000320165:N348S;ENSP00000359598:N348S;ENSP00000378219:N217S;ENSP00000294678:N348S;ENSP00000432834:N178S	.|ENSP00000294678:N348S	I|N	-|-	1|2	0|0	ODF2L|ODF2L	86609302|86609302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.031000|5.031000	0.64134|0.64134	2.254000|2.254000	0.74563|0.74563	0.528000|0.528000	0.53228|0.53228	ATA|AAT	.		0.308	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			C	86836714	T	C	86836714	3	2	61	1	0	0	0	0	1	0	0	0	10867	1493	52	4	1079	4	ODF2L	1	86836714	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	39090229	86836714	162413907	3	12300											
PLEKHO1	51177	ucsc.edu	37	chr1	150131221	150131221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctctcccgaccttggGaaaaaacagacaaaggggcc	11	12	1	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:150131221G>A	ENST00000369124.4	+	6	1011	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E211K|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E62K|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	245	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|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)			CCGACCTTGGGAAAAAACAGA	0.637																																					p.E245K		.											.	PLEKHO1-226	0			c.G733A						.						36	43	41					1																	150131221		2203	4300	6503	SO:0001583	missense	51177	exon6			CCTTGGGAAAAAA	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.733G>A	1.37:g.150131221G>A	ENSP00000358120:p.Glu245Lys	Somatic	202	0		WXS	Illumina GAIIx	Phase_I	104	2	NM_016274	0	0	18	24	6	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182749	0.78677	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.49139	0.79;0.82	4.97	4.05	0.47172	.	0.359070	0.31963	N	0.006788	T	0.23410	0.0566	L	0.50333	1.59	0.38303	D	0.943042	B	0.32245	0.361	B	0.21708	0.036	T	0.06625	-1.0816	10	0.27785	T	0.31	-10.5391	14.501	0.67722	0.0:0.1477:0.8523:0.0	.	245	Q53GL0	PKHO1_HUMAN	K	62;211;245;125	ENSP00000025469:E211K;ENSP00000358120:E245K	ENSP00000025469:E211K	E	+	1	0	PLEKHO1	148397845	1.000000	0.71417	0.984000	0.44739	0.804000	0.45430	2.060000	0.41394	1.287000	0.44583	0.655000	0.94253	GAA	.		0.637	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		A	150131221	G	A	150131221	3	1	61	1	0	0	0	0	1	0	0	0	12123	1175	41	3	755	3	PLEKHO1	1	150131221	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	63294507	150131221	99119400	4	12301											
LMNA	4000	bcgsc.ca	37	chr1	156105772	156105772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagccggcggctgctggcGgaaaaggagcgggagatggc	19	10	0	1	rs17847242	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:156105772G>A	ENST00000368300.4	+	6	1229	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	LMNA_ENST00000392353.3_Silent_p.A258A|LMNA_ENST00000368297.1_Silent_p.A258A|LMNA_ENST00000368301.2_Silent_p.A339A|LMNA_ENST00000361308.4_Silent_p.A339A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.A240A|LMNA_ENST00000347559.2_Silent_p.A339A|LMNA_ENST00000368299.3_Silent_p.A339A|LMNA_ENST00000448611.2_Silent_p.A227A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	339	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGCTGCTGGCGGAAAAGGAGC	0.652									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				G|||	5	0.000998403	0	0	5008	,	,		17844	0.004		0	False		,,,				2504	0.001				p.A339A		.											.	LMNA-228	0			c.G1017A						.						33	40	38					1																	156105772		2203	4300	6503	SO:0001819	synonymous_variant	4000	exon6	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	GCTGGCGGAAAAG	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.1017G>A	1.37:g.156105772G>A		Somatic	177	1		WXS	Illumina GAIIx	Phase_I	88	4	NM_005572	0	0	195	195	0	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	CCDS1129.1																																																																																			G|0.999;A|0.001		0.652	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		A	156105772	G	A	156105772	2	1	61	1	0	0	0	0	0	0	0	1	8878	1103	39	1		1	LMNA	1	156105772	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	5974551	156105772	93144849	5	12302											
C1orf129	80133	bcgsc.ca	37	chr1	170928671	170928671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcctttggaatgctagTtgtcatgccaagtcttgaca	9	9	3	1	rs2294740	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:170928671T>C	ENST00000367758.3	+	5	320	c.221T>C	c.(220-222)gTt>gCt	p.V74A	MROH9_ENST00000367759.4_Missense_Mutation_p.V74A	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	74			V -> A (in dbSNP:rs2294740).														GGAATGCTAGTTGTCATGCCA	0.358													T|||	1253	0.2502	0.0772	0.2176	5008	,	,		16820	0.4554		0.1312	False		,,,				2504	0.4182				p.V74A		.											.	.	0			c.T221C						.	T	ALA/VAL,ALA/VAL	376,3338		14,348,1495	122	114	116		221,221	3.2	0	1	dbSNP_100	116	1340,6888		108,1124,2882	yes	missense,missense	C1orf129	NM_001163629.1,NM_025063.2	64,64	122,1472,4377	CC,CT,TT		16.2859,10.1239,14.3695	possibly-damaging,possibly-damaging	74/862,74/574	170928671	1716,10226	1857	4114	5971	SO:0001583	missense	80133	exon5			TGCTAGTTGTCAT	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.221T>C	1.37:g.170928671T>C	ENSP00000356732:p.Val74Ala	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	60	4	NM_025063	0	0	0	0	0	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	471	0.21565934065934067	23	0.046747967479674794	69	0.19060773480662985	279	0.48776223776223776	100	0.13192612137203166	T	11.48	1.651528	0.29336	0.101239	0.162859	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.14893	4.08;2.47	5.61	3.24	0.37175	.	0.745582	0.12304	N	0.480857	T	0.04770	0.0129	N	0.22421	0.69	0.80722	P	0.0	P;P	0.38370	0.628;0.628	B;B	0.40066	0.318;0.236	T	0.31916	-0.9926	9	0.59425	D	0.04	-2.4411	5.6673	0.17702	0.0:0.0872:0.1718:0.741	rs2294740;rs52803659;rs2294740	74;74	F5GWX6;Q5TGP6	.;CA129_HUMAN	A	74	ENSP00000356733:V74A;ENSP00000356732:V74A	ENSP00000356732:V74A	V	+	2	0	C1orf129	169195295	0.010000	0.17322	0.001000	0.08648	0.075000	0.17131	1.328000	0.33758	0.469000	0.27268	0.533000	0.62120	GTT	T|0.784;C|0.216		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		C	170928671	T	C	170928671	3	2	61	1	0	0	0	0	1	0	0	0	2003	1725	60	4	235	4	C1orf129	1	170928671	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	14822899	170928671	78321950	6	12303											
LGR6	59352	bcgsc.ca	37	chr1	202287754	202287754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgccatggtgaggcacGtggcctggctcatcttcgca	13	13	2	1	rs75658797	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr1:202287754G>A	ENST00000367278.3	+	18	2412	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	LGR6_ENST00000255432.7_Missense_Mutation_p.V723M|LGR6_ENST00000439764.2_Missense_Mutation_p.V636M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	775					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGTGAGGCACGTGGCCTGGCT	0.637													G|||	411	0.0820687	0.059	0.1037	5008	,	,		17778	0.0526		0.1113	False		,,,				2504	0.0982				p.V775M		.											.	LGR6-160	0			c.G2323A						.	G	MET/VAL,MET/VAL,MET/VAL	235,4171	138.4+/-174.2	8,219,1976	100	79	86		2323,1906,2167	2.6	1	1	dbSNP_131	86	1129,7471	234.6+/-267.5	79,971,3250	yes	missense,missense,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	21,21,21	87,1190,5226	AA,AG,GG		13.1279,5.3336,10.4875	benign,benign,benign	775/968,636/829,723/916	202287754	1364,11642	2203	4300	6503	SO:0001583	missense	59352	exon18			AGGCACGTGGCCT	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2323G>A	1.37:g.202287754G>A	ENSP00000356247:p.Val775Met	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	95	5	NM_001017403	0	0	0	0	0	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	CCDS30971.1	190	0.08699633699633699	38	0.07723577235772358	42	0.11602209944751381	32	0.055944055944055944	78	0.10290237467018469	G	13.00	2.107063	0.37145	0.053336	0.131279	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.40225	1.04;1.04;1.04	4.49	2.58	0.30949	.	0.137493	0.48767	N	0.000170	T	0.00271	0.0008	N	0.20530	0.585	0.25761	P	0.9849419	D;P;P	0.54047	0.964;0.941;0.793	B;P;B	0.45881	0.244;0.496;0.409	T	0.06481	-1.0824	9	0.11794	T	0.64	.	6.5745	0.22557	0.1589:0.1488:0.6924:0.0	.	636;723;775	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	775;723;636	ENSP00000356247:V775M;ENSP00000255432:V723M;ENSP00000387869:V636M	ENSP00000255432:V723M	V	+	1	0	LGR6	200554377	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	3.339000	0.52135	0.626000	0.30322	0.485000	0.47835	GTG	G|0.899;A|0.101		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		A	202287754	G	A	202287754	3	1	61	1	0	0	0	0	1	0	0	0	8787	1145	40	1	2540	1	LGR6	1	202287754	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	31359083	202287754	46962867	7	12304											
ITGAV	3685	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	187521095	187521095	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatttcaagggggggactGatgcagtgtgaggaattgat	15	4	1	3			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr2:187521095G>A	ENST00000261023.3	+	17	1960	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L	ITGAV_ENST00000433736.2_Silent_p.L516L|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L526L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	562					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)	GGGGGGGACTGATGCAGTGTG	0.418																																					p.L562L	Melanoma(58;108 1995 6081)	.											.	ITGAV-653	0			c.G1686A						.						273	254	260					2																	187521095		2203	4300	6503	SO:0001819	synonymous_variant	3685	exon17			GGGACTGATGCAG		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.1686G>A	2.37:g.187521095G>A		Somatic	167	1		WXS	Illumina GAIIx	Phase_I	80	32	NM_002210	0	0	0	1	1	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																			.		0.418	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187521095	G	A	187521095	2	1	61	1	0	0	0	0	0	0	0	1	7915	1277	45	3		3	ITGAV	2	187521095	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		187521095	55678278	8	12305											
FAM119A	151194	broad.mit.edu	37	chr2	208478027	208478027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatcaggtcaaattctccagGagaaaaactccccaaatttt	5	10	3	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr2:208478027G>T	ENST00000411432.1	-	4	616	c.400C>A	c.(400-402)Cct>Act	p.P134T	METTL21A_ENST00000406927.2_Missense_Mutation_p.P134T|METTL21A_ENST00000272839.3_Missense_Mutation_p.P152T|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000426075.1_Missense_Mutation_p.P134T|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.P134T|METTL21A_ENST00000448007.2_Missense_Mutation_p.P134T	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	134					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						AATTCTCCAGGAGAAAAACTC	0.378																																					p.P134T		.											.	METTL21A-69	0			c.C400A						.						85	88	87					2																	208478027		2203	4300	6503	SO:0001583	missense	151194	exon4			CTCCAGGAGAAAA	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.400C>A	2.37:g.208478027G>T	ENSP00000415115:p.Pro134Thr	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	35	3	NM_145280	0	0	5	5	0	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442541	0.43326	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.51	4.64	0.57946	.	0.214735	0.49916	D	0.000124	T	0.12433	0.0302	N	0.20766	0.605	0.48975	D	0.999737	B	0.12630	0.006	B	0.15870	0.014	T	0.07121	-1.0789	10	0.32370	T	0.25	-13.1472	14.4963	0.67691	0.0698:0.0:0.9302:0.0	.	134	Q8WXB1	MT21A_HUMAN	T	134;134;152;134;134;134	ENSP00000415115:P134T;ENSP00000407622:P134T;ENSP00000272839:P152T;ENSP00000385481:P134T;ENSP00000403317:P134T;ENSP00000392062:P134T	ENSP00000272839:P152T	P	-	1	0	METTL21A	208186272	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.048000	0.41278	1.578000	0.49821	0.561000	0.74099	CCT	.		0.378	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		T	208478027	G	T	208478027	3	4	61	1	0	0	0	0	1	0	0	0	5432	1174	41	3	260	3	FAM119A	2	208478027	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	20956932	208478027	34721346	9	12306											
CRYGB	1419	bcgsc.ca	37	chr2	209007559	209007559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtcctgaacagagaTacagtcgtctgtgagctctg	13	9	2	3	rs796287	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr2:209007559T>G	ENST00000260988.4	-	3	378	c.331A>C	c.(331-333)Atc>Ctc	p.I111L		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	111	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.		I -> L (in dbSNP:rs796287). {ECO:0000269|PubMed:12011157, ECO:0000269|PubMed:12676897, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2777080, ECO:0000269|PubMed:4065573}.		lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TGAACAGAGATACAGTCGTCT	0.517													G|||	3228	0.644569	0.6203	0.5447	5008	,	,		17939	0.5952		0.7326	False		,,,				2504	0.7086				p.I111L		.											.	CRYGB-90	0			c.A331C						.	G	LEU/ILE	2978,1428	465.9+/-354.3	1033,912,258	145	145	145		331	0.5	0.1	2	dbSNP_86	145	6334,2266	384.1+/-341.0	2333,1668,299	yes	missense	CRYGB	NM_005210.3	5	3366,2580,557	GG,GT,TT		26.3488,32.4103,28.4023	benign	111/176	209007559	9312,3694	2203	4300	6503	SO:0001583	missense	1419	exon3			CAGAGATACAGTC		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.331A>C	2.37:g.209007559T>G	ENSP00000260988:p.Ile111Leu	Somatic	306	2		WXS	Illumina GAIIx	Phase_I	204	8	NM_005210	0	0	0	0	0	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	1385	0.6341575091575091	319	0.6483739837398373	206	0.569060773480663	315	0.5506993006993007	545	0.7189973614775725	G	10.87	1.474126	0.26423	0.675897	0.736512	ENSG00000182187	ENST00000260988	T	0.75589	-0.95	4.64	0.468	0.16732	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.463806	0.25377	N	0.031104	T	0.00012	0.0000	N	0.01668	-0.77	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	9	0.54805	T	0.06	.	9.4649	0.38806	0.0:0.128:0.3464:0.5255	rs796287;rs17641392;rs58328262;rs796287	111	P07316	CRGB_HUMAN	L	111	ENSP00000260988:I111L	ENSP00000260988:I111L	I	-	1	0	CRYGB	208715804	0.005000	0.15991	0.102000	0.21198	0.613000	0.37349	0.827000	0.27421	-0.247000	0.09597	-0.217000	0.12591	ATC	G|0.655;N|0.000		0.517	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		G	209007559	T	G	209007559	3	3	61	1	0	0	0	0	1	0	0	0	3922	1406	49	5	200	5	CRYGB	2	209007559	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	529532	209007559	34191814	10	12307											
IGFBP5	3488	bcgsc.ca	37	chr2	217559484	217559484	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagcaggaggaccgcGgtgagcaacaccatcttctc	12	14	2	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr2:217559484G>T	ENST00000233813.4	-	1	764	c.15C>A	c.(13-15)acC>acA	p.T5T	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	5					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACCGCGGTGAGCAACA	0.662																																					p.T5T		.											.	IGFBP5-522	0			c.C15A						.						4	5	4					2																	217559484		1923	3966	5889	SO:0001819	synonymous_variant	3488	exon1			GACCGCGGTGAGC		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.15C>A	2.37:g.217559484G>T		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	20	3	NM_000599	0	0	3	3	0	Q5U0A3	Silent	SNP	ENST00000233813.4	37	CCDS2405.1																																																																																			.		0.662	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		T	217559484	G	T	217559484	2	4	61	1	0	0	0	0	0	0	0	1	7609	1103	39	2		2	IGFBP5	2	217559484	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	8551925	217559484	25639889	11	12308											
FARP2	9855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242396172	242396172	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatttccaggcctttccacGaagagtcctcagccttctcc	6	16	3	1	rs375721515		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr2:242396172G>C	ENST00000264042.3	+	14	1592	c.1422G>C	c.(1420-1422)acG>acC	p.T474T	FARP2_ENST00000373287.4_Silent_p.T474T|FARP2_ENST00000545004.1_Silent_p.T474T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	474	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCCTTTCCACGAAGAGTCCTC	0.587																																					p.T474T		.											.	FARP2-93	0			c.G1422C						.						110	108	109					2																	242396172		2203	4300	6503	SO:0001819	synonymous_variant	9855	exon14			TTCCACGAAGAGT	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.1422G>C	2.37:g.242396172G>C		Somatic	238	1		WXS	Illumina GAIIx	Phase_I	197	181	NM_014808	0	0	0	0	0	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	CCDS33424.1																																																																																			.		0.587	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			C	242396172	G	C	242396172	2	2	61	1	0	0	0	0	0	0	0	1	5699	1045	37	2		2	FARP2	2	242396172	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	24836688	242396172	803201	12	12309											
XIRP1	165904	bcgsc.ca	37	chr3	39230610	39230610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggcagctggcctctcGtgttctccaatggcatccag	10	14	2	0	rs80147433	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr3:39230610G>A	ENST00000340369.3	-	2	555	c.327C>T	c.(325-327)caC>caT	p.H109H	XIRP1_ENST00000396251.1_Silent_p.H109H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	109					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCCTCTCGTGTTCTCCAA	0.597													G|||	151	0.0301518	0.0038	0.0288	5008	,	,		17880	0.0813		0.0119	False		,,,				2504	0.0327				p.H109H		.											.	XIRP1-158	0			c.C327T						.	G	,	22,4384	29.0+/-57.7	0,22,2181	71	71	71		327,327	-7.6	0	3	dbSNP_132	71	95,8505	54.0+/-114.7	0,95,4205	no	coding-synonymous,coding-synonymous	XIRP1	NM_001198621.1,NM_194293.2	,	0,117,6386	AA,AG,GG		1.1047,0.4993,0.8996	,	109/1122,109/1844	39230610	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	165904	exon2			CCTCTCGTGTTCT	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.327C>T	3.37:g.39230610G>A		Somatic	221	0		WXS	Illumina GAIIx	Phase_I	157	6	NM_001198621	0	0	0	0	0	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																			G|0.986;A|0.014		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39230610	G	A	39230610	2	1	61	1	0	0	0	0	0	0	0	1	17478	1136	40	1		1	XIRP1	3	39230610	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		39230610	158791820	13	12310											
TMEM115	11070	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	50392898	50392900	+	In_Frame_Del	DEL	TCA	TCA	-													ccttggccccagactcctctTcatcatcatccatgctgggc							TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	TCA	TCA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr3:50392898_50392900delTCA	ENST00000266025.3	-	2	1476_1478	c.930_932delTGA	c.(928-933)gatgaa>gaa	p.D310del	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	310					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGACTCCTCTTCATCATCATCCA	0.601																																					p.310_311del		.											.	TMEM115-278	0			c.930_932del						.																																			SO:0001651	inframe_deletion	11070	exon2			TCCTCTTCATCAT	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.930_932delTGA	3.37:g.50392904_50392906delTCA	ENSP00000266025:p.Asp310del	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	100	28	NM_007024	0	0	0	0	0	A2IDB7|O14568|Q6IAY4|Q9UIX3	In_Frame_Del	DEL	ENST00000266025.3	37	CCDS2828.1																																																																																			.		0.601	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		-	50392900	TCA	-	50392898	7	5	61	1	0	1	0	1	0	0	0	0	16076	1783	62	0	127	0	TMEM115	3	50392898	In_Frame_Del	DEL	TCA	TCGA-PK-A5H8-01A-11D-A29I-10	11162288	50392898	147629532	14	12311											
ACAD9	28976	bcgsc.ca	37	chr3	128614185	128614185	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacaccatgtactcaAgactaggggagatcatcagc	8	12	4	2	rs1680778	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr3:128614185A>C	ENST00000308982.7	+	4	460	c.379A>C	c.(379-381)Aga>Cga	p.R127R		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	127						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CATGTACTCAAGACTAGGGGA	0.552													C|||	2721	0.543331	0.851	0.428	5008	,	,		19128	0.623		0.2932	False		,,,				2504	0.3845				p.R127R		.											.	ACAD9-92	0			c.A379C						.	C		3267,1139	401.0+/-331.8	1218,831,154	107	88	94		379	5.5	0	3	dbSNP_89	94	2589,6011	683.9+/-403.9	399,1791,2110	no	coding-synonymous	ACAD9	NM_014049.4		1617,2622,2264	CC,CA,AA		30.1047,25.8511,45.0254		127/622	128614185	5856,7150	2203	4300	6503	SO:0001819	synonymous_variant	28976	exon4			TACTCAAGACTAG	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.379A>C	3.37:g.128614185A>C		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	123	6	NM_014049	0	0	13	13	0	D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	CCDS3053.1																																																																																			A|0.502;C|0.498		0.552	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		C	128614185	A	C	128614185	2	2	61	1	0	0	0	0	0	0	0	1	111	64	3	5		5	ACAD9	3	128614185	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	78221287	128614185	69408245	15	12312											
FGFBP2	83888	bcgsc.ca	37	chr4	15964670	15964670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaattcctccccagtgCttccttgcttttgcctcggg	9	13	0	0	rs35496730	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr4:15964670C>T	ENST00000259989.6	-	1	189	c.83G>A	c.(82-84)aGc>aAc	p.S28N	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	28			S -> N (in dbSNP:rs35496730).			extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCCCAGTGCTTCCTTGCTT	0.577													C|||	606	0.121006	0.0794	0.1297	5008	,	,		20896	0.0853		0.1541	False		,,,				2504	0.1738				p.S28N		.											.	FGFBP2-22	0			c.G83A						.	C	ASN/SER	425,3981	206.5+/-228.1	21,383,1799	71	62	65		83	-2.1	0	4	dbSNP_126	65	1325,7275	259.8+/-282.9	112,1101,3087	yes	missense	FGFBP2	NM_031950.3	46	133,1484,4886	TT,TC,CC		15.407,9.6459,13.4553	benign	28/224	15964670	1750,11256	2203	4300	6503	SO:0001583	missense	83888	exon1			CCAGTGCTTCCTT	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.83G>A	4.37:g.15964670C>T	ENSP00000259989:p.Ser28Asn	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	89	6	NM_031950	0	0	0	0	0		Missense_Mutation	SNP	ENST00000259989.6	37	CCDS3419.1	255	0.11675824175824176	39	0.07926829268292683	52	0.143646408839779	47	0.08216783216783216	117	0.15435356200527706	C	3.733	-0.055220	0.07362	0.096459	0.15407	ENSG00000137441	ENST00000259989	T	0.16073	2.37	2.98	-2.08	0.07254	.	1.294600	0.05643	U	0.583857	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	B	0.06786	0.001	B	0.11329	0.006	T	0.39542	-0.9609	9	0.18276	T	0.48	0.8044	3.5788	0.07945	0.1651:0.4992:0.0:0.3357	rs35496730	28	Q9BYJ0	FGFP2_HUMAN	N	28	ENSP00000259989:S28N	ENSP00000259989:S28N	S	-	2	0	FGFBP2	15573768	0.044000	0.20184	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-0.762000	0.04664	-0.896000	0.02909	AGC	C|0.872;T|0.128		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		T	15964670	C	T	15964670	3	4	61	1	0	0	0	0	1	0	0	0	5883	797	28	3	592	3	FGFBP2	4	15964670	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		15964670	175189606	16	12313											
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87643581	87643581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccatgactcaaagaaaActgagggtaagttgattctc	9	8	2	4			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr4:87643581A>C	ENST00000411767.2	+	10	1665	c.1602A>C	c.(1600-1602)aaA>aaC	p.K534N	PTPN13_ENST00000436978.1_Missense_Mutation_p.K534N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K534N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K534N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K534N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	534					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCAAAGAAAACTGAGGGTAA	0.428																																					p.K534N		.											.	PTPN13-230	0			c.A1602C						.						100	96	97					4																	87643581		1886	4114	6000	SO:0001583	missense	5783	exon10			AAGAAAACTGAGG		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.1602A>C	4.37:g.87643581A>C	ENSP00000407249:p.Lys534Asn	Somatic	287	0		WXS	Illumina GAIIx	Phase_I	341	147	NM_006264	0	0	0	0	0	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360289	0.41801	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.92	0.888	0.19206	.	0.000000	0.49305	D	0.000156	T	0.36880	0.0983	L	0.49640	1.575	0.53688	D	0.999973	P;P;P;P	0.44044	0.712;0.825;0.732;0.825	P;B;B;B	0.51550	0.673;0.394;0.221;0.394	T	0.09530	-1.0670	10	0.48119	T	0.1	.	4.2347	0.10620	0.6104:0.0:0.248:0.1416	.	534;534;534;534	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	534;534;534;534;534;502	ENSP00000408368:K534N;ENSP00000394794:K534N;ENSP00000322675:K534N;ENSP00000407249:K534N;ENSP00000426626:K534N	ENSP00000322675:K534N	K	+	3	2	PTPN13	87862605	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	0.970000	0.29383	-0.023000	0.13963	0.533000	0.62120	AAA	.		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87643581	A	C	87643581	3	2	61	1	0	0	0	0	1	0	0	0	12825	40	2	5	1636	5	PTPN13	4	87643581	Missense_Mutation	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	71678911	87643581	103510695	17	12314											
COL25A1	84570	hgsc.bcm.edu;broad.mit.edu	37	chr4	109861707	109861707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgactcacgggtactcctggCattccacgggggccatcttt	11	14	2	0			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr4:109861707C>A	ENST00000399132.1	-	10	1190	c.660G>T	c.(658-660)atG>atT	p.M220I	COL25A1_ENST00000399127.1_Missense_Mutation_p.M216I|COL25A1_ENST00000399126.1_Missense_Mutation_p.M220I	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTACTCCTGGCATTCCACGGG	0.597																																					p.M220I		.											.	COL25A1-92	0			c.G660T						.						102	101	101					4																	109861707		1892	4118	6010	SO:0001583	missense	84570	exon9			TCCTGGCATTCCA	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.660G>T	4.37:g.109861707C>A	ENSP00000382083:p.Met220Ile	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	58	4	NM_198721	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	7.032	0.560825	0.13498	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.94092	-3.35;-3.35;-3.35	5.47	5.47	0.80525	.	0.503801	0.24160	N	0.040993	D	0.85531	0.5718	N	0.05280	-0.08	0.34605	D	0.71694	B;B	0.19706	0.038;0.004	B;B	0.15484	0.013;0.003	T	0.82408	-0.0472	9	.	.	.	-2.6884	19.3339	0.94307	0.0:1.0:0.0:0.0	.	220;220	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	I	220;222;216;216;220	ENSP00000382083:M220I;ENSP00000382078:M216I;ENSP00000382077:M220I	.	M	-	3	0	COL25A1	110081156	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	2.591000	0.46163	2.557000	0.86248	0.555000	0.69702	ATG	.		0.597	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		A	109861707	C	A	109861707	3	1	61	1	0	0	0	0	1	0	0	0	3691	710	25	3	1504	3	COL25A1	4	109861707	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	22218126	109861707	81292569	18	12315											
SRD5A1	6715	hgsc.bcm.edu	37	chr5	6633779	6633779	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcggtcttcgcgcgCaatcgtcagacgaactcagt	13	13	3	1	rs248793	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000506139.1_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5	6	5		90	0.8	0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	6	5	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		G	6633779	C	G	6633779	2	3	61	1	0	0	0	0	0	0	0	1	15185	697	25	3		3	SRD5A1	5	6633779	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		6633779	174281481	19	12316											
ARL10	285598	hgsc.bcm.edu	37	chr5	175792605	175792605	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttggtgctggcgctGggcggcgccgcggcggtgct	20	14	0	0	rs2303667	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3	4	3		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175792605	G	C	175792605	2	2	61	1	0	0	0	0	0	0	0	1	926	1335	47	3		3	ARL10	5	175792605	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	169158826	175792605	5122655	20	12317											
CNOT6	57472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	179994980	179994980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtactgctagaacttcGgaaggaatcgattgaaatgc	11	7	0	2	rs143354534		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr5:179994980G>A	ENST00000393356.1	+	11	1428	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	CNOT6_ENST00000261951.4_Missense_Mutation_p.R335Q			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	335	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTAGAACTTCGGAAGGAATCG	0.413																																					p.R335Q		.											.	CNOT6-90	0			c.G1004A						.						147	133	138					5																	179994980		2203	4300	6503	SO:0001583	missense	57472	exon9			AACTTCGGAAGGA	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1004G>A	5.37:g.179994980G>A	ENSP00000377024:p.Arg335Gln	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	120	18	NM_015455	0	0	5	5	0	A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282051	0.80692	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.33865	1.39;1.39	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.35723	1.085	0.80722	D	1	P	0.41159	0.74	B	0.33568	0.166	T	0.03103	-1.1072	9	.	.	.	-6.2753	13.0155	0.58754	0.0738:0.0:0.9262:0.0	.	335	Q9ULM6	CNOT6_HUMAN	Q	335	ENSP00000261951:R335Q;ENSP00000377024:R335Q	.	R	+	2	0	CNOT6	179927586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.453000	0.66645	2.733000	0.93635	0.655000	0.94253	CGG	G|1.000;T|0.000		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		A	179994980	G	A	179994980	3	1	61	1	0	0	0	0	1	0	0	0	3629	1116	39	1	1034	1	CNOT6	5	179994980	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	4202375	179994980	920280	21	12318											
C6orf222	389384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	36298263	36298263	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgcagcggtggtgcagtGagcctctgcagatggagctg	18	9	1	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr6:36298263G>T	ENST00000437635.2	-	2	382	c.205C>A	c.(205-207)Cac>Aac	p.H69N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	69										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGGTGCAGTGAGCCTCTGCA	0.627																																					p.H69N		.											.	C6orf222-93	0			c.C205A						.						47	50	49					6																	36298263		2203	4300	6503	SO:0001583	missense	389384	exon2			TGCAGTGAGCCTC		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.205C>A	6.37:g.36298263G>T	ENSP00000418983:p.His69Asn	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	68	18	NM_001010903	0	0	0	0	0	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568893	0.28003	.	.	ENSG00000189325	ENST00000437635	T	0.41758	0.99	4.46	3.53	0.40419	.	0.701268	0.11822	N	0.526145	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.15464	-1.0436	10	0.33141	T	0.24	-6.8391	10.199	0.43071	0.0:0.0:0.8022:0.1978	.	69	P0C671	CF222_HUMAN	N	69	ENSP00000418983:H69N	ENSP00000418983:H69N	H	-	1	0	C6orf222	36406241	0.002000	0.14202	0.004000	0.12327	0.018000	0.09664	0.994000	0.29693	2.191000	0.70037	0.471000	0.43371	CAC	.		0.627	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		T	36298263	G	T	36298263	3	4	61	1	0	0	0	0	1	0	0	0	2363	1290	45	3	1797	3	C6orf222	6	36298263	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		36298263	134816804	22	12319											
COL21A1	81578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	55990909	55990909	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctttgatcctggcatGccatgaagcccaggaaaacc	8	13	1	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr6:55990909G>T	ENST00000244728.5	-	13	1978	c.1581C>A	c.(1579-1581)ggC>ggA	p.G527G	COL21A1_ENST00000535941.1_Silent_p.G527G|COL21A1_ENST00000370819.1_Silent_p.G524G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	527	Collagen-like 2.				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)			ATCCTGGCATGCCATGAAGCC	0.303																																					p.G527G		.											.	COL21A1-24	0			c.C1581A						.						20	21	21					6																	55990909		1785	3938	5723	SO:0001819	synonymous_variant	81578	exon13			TGGCATGCCATGA	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.1581C>A	6.37:g.55990909G>T		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	135	28	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752235	0.15778	.	.	ENSG00000124749	ENST00000456983	.	.	.	5.08	-2.84	0.05751	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38045	-0.9679	4	.	.	.	.	6.5619	0.22491	0.0:0.2064:0.1481:0.6456	.	.	.	.	E	91	.	.	A	-	2	0	COL21A1	56098868	0.826000	0.29277	0.758000	0.31321	0.927000	0.56198	-0.602000	0.05680	-0.621000	0.05633	-0.171000	0.13296	GCA	.		0.303	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	55990909	G	T	55990909	2	4	61	1	0	0	0	0	0	0	0	1	3687	1306	46	3		3	COL21A1	6	55990909	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	19692646	55990909	115124158	23	12320											
CD109	135228	bcgsc.ca	37	chr6	74468692	74468692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaatttgaagtgactttGcagacaccattatattgttc	6	8	0	3			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr6:74468692G>T	ENST00000287097.5	+	7	811	c.699G>T	c.(697-699)ttG>ttT	p.L233F	CD109_ENST00000437994.2_Missense_Mutation_p.L233F|CD109_ENST00000422508.2_Missense_Mutation_p.L156F			Q6YHK3	CD109_HUMAN	CD109 molecule	233					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGTGACTTTGCAGACACCAT	0.308																																					p.L233F		.											.	CD109-155	0			c.G699T						.						77	74	75					6																	74468692		2203	4296	6499	SO:0001583	missense	135228	exon7			GACTTTGCAGACA	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.699G>T	6.37:g.74468692G>T	ENSP00000287097:p.Leu233Phe	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_133493	0	0	0	0	0	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643507	0.29246	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.26810	1.71;2.0;1.72	5.16	3.31	0.37934	.	0.455812	0.21654	N	0.071134	T	0.09598	0.0236	L	0.47190	1.495	0.29243	N	0.872516	P;P;B;B	0.43024	0.798;0.493;0.058;0.077	B;B;B;B	0.38264	0.269;0.255;0.06;0.064	T	0.07654	-1.0761	10	0.72032	D	0.01	.	7.0469	0.25050	0.1719:0.1568:0.6713:0.0	.	156;233;233;233	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	F	233;156;233	ENSP00000388062:L233F;ENSP00000404475:L156F;ENSP00000287097:L233F	ENSP00000287097:L233F	L	+	3	2	CD109	74525413	1.000000	0.71417	0.968000	0.41197	0.528000	0.34623	0.827000	0.27421	1.419000	0.47118	0.462000	0.41574	TTG	.		0.308	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		T	74468692	G	T	74468692	3	4	61	1	0	0	0	0	1	0	0	0	2970	1310	46	3	725	3	CD109	6	74468692	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	18477783	74468692	96646375	24	12321											
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	155469331	155469337	+	Frame_Shift_Del	DEL	GACACGC	GACACGC	-													caaagaagcatgggaaagagGacacgctgcggctgctgaag					rs200977411|rs146947115	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	GACACGC	GACACGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr6:155469331_155469337delGACACGC	ENST00000461783.3	+	9	3164_3170	c.1891_1897delGACACGC	c.(1891-1899)gacacgctgfs	p.DTL631fs	TIAM2_ENST00000456144.1_Frame_Shift_Del_p.DTL631fs|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456877.2_5'Flank|TIAM2_ENST00000318981.5_Frame_Shift_Del_p.DTL631fs|TIAM2_ENST00000529824.2_Frame_Shift_Del_p.DTL631fs|TIAM2_ENST00000360366.4_Frame_Shift_Del_p.DTL631fs|TIAM2_ENST00000528391.2_5'Flank			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	631					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGGAAAGAGGACACGCTGCGGCTGCT	0.517																																					p.631_633del		.											.	TIAM2-93	0			c.1891_1897del						.																																			SO:0001589	frameshift_variant	26230	exon6			AAAGAGGACACGC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1891_1897delGACACGC	6.37:g.155469331_155469337delGACACGC	ENSP00000437188:p.Asp631fs	Somatic	385	0		WXS	Illumina GAIIx	Phase_I	287	0	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Frame_Shift_Del	DEL	ENST00000461783.3	37	CCDS34558.1																																																																																			.		0.517	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		-	155469337	GACACGC	-	155469331	7	5	61	1	0	1	0	1	0	0	0	0	15938	1174	41	0	1905	0	TIAM2	6	155469331	Frame_Shift_Del	DEL	GACACGC	TCGA-PK-A5H8-01A-11D-A29I-10	81000639	155469331	15645736	25	12322											
ANKIB1	54467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	92027761	92027761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttggtgacagcctcaTgagactaggagcagagaatg	14	7	1	3			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr7:92027761T>G	ENST00000265742.3	+	20	3144	c.2768T>G	c.(2767-2769)aTg>aGg	p.M923R		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	923							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)			GACAGCCTCATGAGACTAGGA	0.502																																					p.M923R		.											.	ANKIB1-432	0			c.T2768G						.						84	79	81					7																	92027761		1956	4158	6114	SO:0001583	missense	54467	exon20			GCCTCATGAGACT	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.2768T>G	7.37:g.92027761T>G	ENSP00000265742:p.Met923Arg	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	189	95	NM_019004	0	0	6	7	1	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534889	0.27475	.	.	ENSG00000001629	ENST00000265742	T	0.10192	2.9	5.61	1.69	0.24217	.	0.665097	0.17230	N	0.181978	T	0.05593	0.0147	N	0.12182	0.205	0.29461	N	0.857731	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24333	-1.0163	10	0.37606	T	0.19	.	7.3873	0.26891	0.0:0.1316:0.1207:0.7477	.	275;923	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	R	923	ENSP00000265742:M923R	ENSP00000265742:M923R	M	+	2	0	ANKIB1	91865697	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	1.917000	0.39996	0.491000	0.27793	-0.261000	0.10672	ATG	.		0.502	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			G	92027761	T	G	92027761	3	3	61	1	0	0	0	0	1	0	0	0	630	1464	51	5	2842	5	ANKIB1	7	92027761	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10		92027761	67110902	26	12323											
THAP5	168451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	108205172	108205172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcttgagtttccaaagaTtgatgaatactttctgaatt	6	6	2	5	rs142576735		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr7:108205172T>C	ENST00000415914.3	-	3	804	c.651A>G	c.(649-651)caA>caG	p.Q217Q	THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Silent_p.Q175Q	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	217					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						TTTCCAAAGATTGATGAATAC	0.328													T|||	1	0.000199681	0	0	5008	,	,		18588	0		0.001	False		,,,				2504	0				p.Q217Q		.											.	THAP5-68	0			c.A651G						.	T	,	1,4403	2.1+/-5.4	0,1,2201	51	52	51		651,525	-4	0	7	dbSNP_134	51	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	THAP5	NM_001130475.1,NM_182529.2	,	0,1,6497	CC,CT,TT		0.0,0.0227,0.0077	,	217/396,175/354	108205172	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	168451	exon3			CAAAGATTGATGA	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.651A>G	7.37:g.108205172T>C		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	88	15	NM_001130475	0	0	5	5	0		Silent	SNP	ENST00000415914.3	37	CCDS47687.1																																																																																			T|1.000;C|0.000		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		C	108205172	T	C	108205172	2	2	61	1	0	0	0	0	0	0	0	1	15894	1490	52	4		4	THAP5	7	108205172	Silent	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	16177411	108205172	50933491	27	12324											
PCMTD1	115294	bcgsc.ca	37	chr8	52733110	52733110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggaataagctgattaCccacaaatacgtaagtgtta	9	7	0	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr8:52733110C>T	ENST00000360540.5	-	7	1281	c.875G>A	c.(874-876)gGt>gAt	p.G292D	PCMTD1_ENST00000522514.1_Missense_Mutation_p.G292D|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G216D	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	292						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTGATTACCCACAAATAC	0.398																																					p.G292D		.											.	PCMTD1-68	0			c.G875A						.						192	187	189					8																	52733110		2203	4300	6503	SO:0001583	missense	115294	exon6			TGATTACCCACAA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.875G>A	8.37:g.52733110C>T	ENSP00000353739:p.Gly292Asp	Somatic	218	4		WXS	Illumina GAIIx	Phase_I	178	8	NM_052937	0	0	17	17	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501676	0.64298	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	N	0.25485	0.75	0.80722	D	1	D;D;B	0.89917	0.976;1.0;0.004	P;D;B	0.97110	0.661;1.0;0.006	T	0.26258	-1.0108	10	0.08381	T	0.77	-32.1559	20.4239	0.99064	0.0:1.0:0.0:0.0	.	162;216;292	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	D	292;216;292	ENSP00000353739:G292D;ENSP00000444026:G216D;ENSP00000428099:G292D	ENSP00000353739:G292D	G	-	2	0	PCMTD1	52895663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.046000	0.76592	2.828000	0.97474	0.655000	0.94253	GGT	.		0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52733110	C	T	52733110	3	4	61	1	0	0	0	0	1	0	0	0	11625	507	18	3	202	3	PCMTD1	8	52733110	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		52733110	93630912	28	12325											
RIPK2	8767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	90777603	90777603	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatgttgcttggccattgaGatttcgcatcctgcatgaaa	10	8	0	3			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr8:90777603G>C	ENST00000220751.4	+	3	676	c.362G>C	c.(361-363)aGa>aCa	p.R121T	RIPK2_ENST00000540020.1_5'UTR	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGCCATTGAGATTTCGCATC	0.343																																					p.R121T		.											.	RIPK2-523	0			c.G362C						.						144	138	140					8																	90777603		2203	4300	6503	SO:0001583	missense	8767	exon3			CATTGAGATTTCG	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.362G>C	8.37:g.90777603G>C	ENSP00000220751:p.Arg121Thr	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	100	54	NM_003821	0	0	0	1	1	B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296000	0.81025	.	.	ENSG00000104312	ENST00000220751	T	0.64438	-0.1	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42172	D	0.000753	T	0.75057	0.3798	L	0.57130	1.785	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.77531	-0.2553	10	0.87932	D	0	-17.7169	14.3507	0.66699	0.0:0.1479:0.8521:0.0	.	121	O43353	RIPK2_HUMAN	T	121	ENSP00000220751:R121T	ENSP00000220751:R121T	R	+	2	0	RIPK2	90846740	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.870000	0.87175	2.422000	0.82143	0.655000	0.94253	AGA	.		0.343	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			C	90777603	G	C	90777603	3	2	61	1	0	0	0	0	1	0	0	0	13426	942	33	3	372	3	RIPK2	8	90777603	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	38044493	90777603	55586419	29	12326											
EXT1	2131	hgsc.bcm.edu;bcgsc.ca	37	chr8	118817057	118817057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagttcatgagaatgtcCtcacaattggccaattggtc	10	8	2	1	rs142710059	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr8:118817057C>T	ENST00000378204.2	-	10	2765	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	653	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGAGAATGTCCTCACAATTGG	0.433			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				C|||	25	0.00499201	0.0182	0.0014	5008	,	,		22060	0		0	False		,,,				2504	0				p.E653E		.	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	EXT1-660	0			c.G1959A						.	C		64,4342	61.1+/-98.1	0,64,2139	199	184	189		1959	4.8	1	8	dbSNP_134	189	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EXT1	NM_000127.2		0,66,6437	TT,TC,CC		0.0233,1.4526,0.5075		653/747	118817057	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	2131	exon10	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	AATGTCCTCACAA	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1959G>A	8.37:g.118817057C>T		Somatic	284	0		WXS	Illumina GAIIx	Phase_I	286	19	NM_000127	0	0	30	31	1	B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	CCDS6324.1																																																																																			C|0.994;T|0.006		0.433	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		T	118817057	C	T	118817057	2	4	61	1	0	0	0	0	0	0	0	1	5339	680	24	3		3	EXT1	8	118817057	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	28039454	118817057	27546965	30	12327											
PRUNE2	158471	ucsc.edu	37	chr9	79318585	79318585	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggccctgagtccctGgcatccagtgatggatcacc	10	16	1	2	rs17180718	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:79318585G>C	ENST00000376718.3	-	9	8067	c.7944C>G	c.(7942-7944)gcC>gcG	p.A2648A	PRUNE2_ENST00000428286.1_Silent_p.A2289A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2648					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGAGTCCCTGGCATCCAGTG	0.532													G|||	151	0.0301518	0	0	5008	,	,		17443	0.0933		0.0119	False		,,,				2504	0.046				p.A2648A		.											.	PRUNE2-157	0			c.C7944G						.	G		8,3128		0,8,1560	49	46	47		7944	-3.3	0	9	dbSNP_123	47	88,7076		0,88,3494	no	coding-synonymous	PRUNE2	NM_015225.2		0,96,5054	CC,CG,GG		1.2284,0.2551,0.932		2648/3089	79318585	96,10204	1568	3582	5150	SO:0001819	synonymous_variant	158471	exon9			GTCCCTGGCATCC	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.7944C>G	9.37:g.79318585G>C		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	37	4	NM_015225	0	0	0	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	57	0.0260989010989011	0	0.0	0	0.0	48	0.08391608391608392	9	0.011873350923482849	G	5.383	0.255973	0.10185	0.002551	0.012284	ENSG00000106772	ENST00000426088	.	.	.	5.62	-3.28	0.05033	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-0.2289	0.992	0.01459	0.417:0.1771:0.2262:0.1797	rs17180718;rs17180718	.	.	.	E	1970	.	.	Q	-	1	0	PRUNE2	78508405	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.564000	0.05936	-0.225000	0.09913	0.579000	0.79373	CAG	G|0.976;C|0.024		0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79318585	G	C	79318585	2	2	61	1	0	0	0	0	0	0	0	1	12683	1335	47	3		3	PRUNE2	9	79318585	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		79318585	61894846	31	12328											
INVS	27130	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	103008983	103008983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctttatgtgggcagctgGcaaaggcagtgatgatgtcc	13	8	0	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:103008983G>T	ENST00000262457.2	+	8	1177	c.992G>T	c.(991-993)gGc>gTc	p.G331V	INVS_ENST00000541287.1_Missense_Mutation_p.G235V|INVS_ENST00000262456.2_Missense_Mutation_p.G331V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	331					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGGCAGCTGGCAAAGGCAGT	0.408																																					p.G331V		.											.	INVS-92	0			c.G992T						.						124	112	116					9																	103008983		2203	4300	6503	SO:0001583	missense	27130	exon8			CAGCTGGCAAAGG	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.992G>T	9.37:g.103008983G>T	ENSP00000262457:p.Gly331Val	Somatic	405	1		WXS	Illumina GAIIx	Phase_I	250	27	NM_183245	0	0	0	0	0	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194233	0.94960	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.63913	-0.07;-0.07;-0.07	5.81	5.81	0.92471	Ankyrin repeat-containing domain (4);	0.045672	0.85682	D	0.000000	T	0.73202	0.3557	L	0.59436	1.845	0.80722	D	1	P;P;P	0.52316	0.868;0.952;0.868	P;P;P	0.58130	0.804;0.833;0.589	T	0.66077	-0.6013	10	0.22109	T	0.4	.	20.0758	0.97742	0.0:0.0:1.0:0.0	.	235;331;331	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	V	331;235;331	ENSP00000262457:G331V;ENSP00000444454:G235V;ENSP00000262456:G331V	ENSP00000262456:G331V	G	+	2	0	INVS	102048804	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.860000	0.99555	2.763000	0.94921	0.650000	0.86243	GGC	.		0.408	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103008983	G	T	103008983	3	4	61	1	0	0	0	0	1	0	0	0	7814	1203	42	3	1018	3	INVS	9	103008983	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	23690398	103008983	38204448	32	12329											
OR1L8	138881	bcgsc.ca	37	chr9	125330325	125330325	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggagaaggccaccagCaggacacagtggtggtggct	17	9	0	1	rs10985703	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:125330325C>G	ENST00000304865.2	-	1	513	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGCCACCAGCAGGACACAGT	0.547													G|||	2119	0.423123	0.3283	0.389	5008	,	,		21856	0.8006		0.2555	False		,,,				2504	0.3589				p.L144L		.											.	OR1L8-70	0			c.G432C						.	G		1441,2965	683.9+/-404.3	239,963,1001	117	87	97		432	-0.9	0	9	dbSNP_120	97	2239,6361	708.8+/-405.7	293,1653,2354	no	coding-synonymous	OR1L8	NM_001004454.1		532,2616,3355	GG,GC,CC		26.0349,32.7054,28.2946		144/310	125330325	3680,9326	2203	4300	6503	SO:0001819	synonymous_variant	138881	exon1			CACCAGCAGGACA		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.432G>C	9.37:g.125330325C>G		Somatic	309	1		WXS	Illumina GAIIx	Phase_I	220	7	NM_001004454	0	0	0	0	0	A3KFM3|B9EIR6|Q6IF15|Q96R79	Silent	SNP	ENST00000304865.2	37	CCDS35124.1																																																																																			C|0.662;G|0.338		0.547	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			G	125330325	C	G	125330325	2	3	61	1	0	0	0	0	0	0	0	1	11006	697	25	3		3	OR1L8	9	125330325	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	22321342	125330325	15883106	33	12330											
NUP188	23511	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	131719265	131719266	+	Frame_Shift_Ins	INS	-	-	GT													cagagtgtgcagttactccaINSgtgttacctgcaagaggact					rs373820270		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:131719265_131719266insGT	ENST00000372577.2	+	5	302_303	c.281_282insGT	c.(280-285)cagtgtfs	p.QC94fs	RP11-101E3.5_ENST00000482796.1_Frame_Shift_Ins_p.S115fs|NUP188_ENST00000550219.1_3'UTR	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	94					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTTACTCCAGTGTTACCTGC	0.436																																					p.Q94fs		.											.	NUP188-207	0			c.281_282insGT						.																																			SO:0001589	frameshift_variant	23511	exon5			TACTCCAGTGTTA	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.284_285dupGT	9.37:g.131719268_131719269dupGT	ENSP00000361658:p.Gln94fs	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	118	48	NM_015354	0	0	0	0	0	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Ins	INS	ENST00000372577.2	37	CCDS35156.1																																																																																			.		0.436	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			GT	131719266	-	GT	131719265	7	5	61	1	0	1	1	0	0	0	0	0	10797	188	7	0	299	0	NUP188	9	131719265	Frame_Shift_Ins	INS	-	TCGA-PK-A5H8-01A-11D-A29I-10	6388940	131719265	9494166	34	12331											
NOTCH1	4851	bcgsc.ca	37	chr9	139407932	139407932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggttggattcacactcAttgttgttgatgtcacagtt	10	7	3	1	rs2229971|rs587778559	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:139407932A>G	ENST00000277541.6	-	14	2340	c.2265T>C	c.(2263-2265)aaT>aaC	p.N755N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	755	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)		ATTCACACTCATTGTTGTTGA	0.602			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G|||	2643	0.527756	0.6997	0.4784	5008	,	,		19531	0.7768		0.335	False		,,,				2504	0.272				p.N755N		.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1-5459	0			c.T2265C						.	G		2695,1683		864,967,358	109	123	118		2265	-2.3	0	9	dbSNP_98	118	2445,6109		358,1729,2190	no	coding-synonymous	NOTCH1	NM_017617.3		1222,2696,2548	GG,GA,AA		28.5831,38.4422,39.7464		755/2556	139407932	5140,7792	2189	4277	6466	SO:0001819	synonymous_variant	4851	exon14			ACACTCATTGTTG	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.2265T>C	9.37:g.139407932A>G		Somatic	206	2		WXS	Illumina GAIIx	Phase_I	111	7	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			A|0.484;G|0.516		0.602	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		G	139407932	A	G	139407932	2	3	61	1	0	0	0	0	0	0	0	1	10586	214	8	4		4	NOTCH1	9	139407932	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	7688667	139407932	1805499	35	12332											
NOTCH1	4851	broad.mit.edu	37	chr9	139411769	139411769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgatcttgtccaggcagcGgccattgtgcaggcaggggc	15	10	1	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr9:139411769G>T	ENST00000277541.6	-	9	1585	c.1510C>A	c.(1510-1512)Cgc>Agc	p.R504S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	504	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		TCCAGGCAGCGGCCATTGTGC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.R504S		.		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	NOTCH1-5459	0			c.C1510A						.						28	36	34					9																	139411769		2096	4230	6326	SO:0001583	missense	4851	exon9			GGCAGCGGCCATT	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.1510C>A	9.37:g.139411769G>T	ENSP00000277541:p.Arg504Ser	Somatic	181	1		WXS	Illumina GAIIx	Phase_I	90	3	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518457	0.27211	.	.	ENSG00000148400	ENST00000277541	D	0.86865	-2.18	4.55	2.5	0.30297	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.514261	0.20982	N	0.082198	T	0.67543	0.2904	N	0.02854	-0.475	0.28981	N	0.888665	B	0.17852	0.024	B	0.30401	0.115	T	0.58228	-0.7673	10	0.12430	T	0.62	.	6.2555	0.20872	0.0:0.1396:0.4699:0.3904	.	504	P46531	NOTC1_HUMAN	S	504	ENSP00000277541:R504S	ENSP00000277541:R504S	R	-	1	0	NOTCH1	138531590	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	2.328000	0.43867	2.067000	0.61834	0.563000	0.77884	CGC	.		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139411769	G	T	139411769	3	4	61	1	0	0	0	0	1	0	0	0	10586	1116	39	2	6261	2	NOTCH1	9	139411769	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	3837	139411769	1801662	36	12333											
SVIL	6840	bcgsc.ca	37	chr10	29839864	29839864	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggggtacagagaactAgcatctctgcttgactcttc	10	12	2	2	rs1270874	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:29839864A>C	ENST00000355867.4	-	6	1241	c.489T>G	c.(487-489)gcT>gcG	p.A163A	SVIL_ENST00000375398.2_Silent_p.A163A|SVIL_ENST00000375400.3_Silent_p.A163A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	163	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGAGAACTAGCATCTCTGC	0.567													C|||	3645	0.727835	0.6324	0.7075	5008	,	,		19018	0.8224		0.7286	False		,,,				2504	0.773				p.A163A		.											.	SVIL-96	0			c.T489G						.	C	,	2923,1483	476.4+/-357.6	965,993,245	79	79	79		489,489	-7.9	0	10	dbSNP_87	79	6230,2370	395.7+/-345.2	2262,1706,332	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	3227,2699,577	CC,CA,AA		27.5581,33.6586,29.6248	,	163/1789,163/2215	29839864	9153,3853	2203	4300	6503	SO:0001819	synonymous_variant	6840	exon8			AGAACTAGCATCT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.489T>G	10.37:g.29839864A>C		Somatic	205	2		WXS	Illumina GAIIx	Phase_I	121	6	NM_003174	0	0	0	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																			A|0.289;C|0.711		0.567	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29839864	A	C	29839864	2	2	61	1	0	0	0	0	0	0	0	1	15468	407	15	5		5	SVIL	10	29839864	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10		29839864	105694883	37	12334											
MAT1A	4143	ucsc.edu;bcgsc.ca	37	chr10	82034842	82034842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagcgggcagcatatgcAgctgagcggtctaccttggt	13	12	1	1	rs10887711	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:82034842A>G	ENST00000372213.3	-	7	1142	c.882T>C	c.(880-882)gcT>gcC	p.A294A	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	294					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCATATGCAGCTGAGCGGT	0.607													G|||	4209	0.840455	0.9266	0.7781	5008	,	,		16178	0.9712		0.6412	False		,,,				2504	0.8384				p.A294A		.											.	MAT1A-90	0			c.T882C						.	G		3831,573		1675,481,46	33	34	34		882	-10	0	10	dbSNP_120	34	5359,3235		1696,1967,634	no	coding-synonymous	MAT1A	NM_000429.2		3371,2448,680	GG,GA,AA		37.6425,13.0109,29.2968		294/396	82034842	9190,3808	2202	4297	6499	SO:0001819	synonymous_variant	4143	exon7			ATATGCAGCTGAG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.882T>C	10.37:g.82034842A>G		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	40	5	NM_000429	0	0	5	5	0	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			A|0.230;G|0.770		0.607	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		G	82034842	A	G	82034842	2	3	61	1	0	0	0	0	0	0	0	1	9367	175	7	4		4	MAT1A	10	82034842	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	52194978	82034842	53499905	38	12335			1	58		2	2	13	N	T_A	2.75219e-05
MAT1A	4143	ucsc.edu;bcgsc.ca	37	chr10	82034854	82034854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgcagctgagcggtcTaccttggtgtagtccttccc	11	12	1	1	rs10788546	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:82034854T>C	ENST00000372213.3	-	7	1130	c.870A>G	c.(868-870)gtA>gtG	p.V290V	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	290					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGAGCGGTCTACCTTGGTGT	0.617													C|||	4211	0.840855	0.9266	0.7781	5008	,	,		15774	0.9712		0.6412	False		,,,				2504	0.8405				p.V290V		.											.	MAT1A-90	0			c.A870G						.	C		3841,561		1681,479,41	39	39	39		870	4.1	1	10	dbSNP_120	39	5379,3217		1700,1979,619	no	coding-synonymous	MAT1A	NM_000429.2		3381,2458,660	CC,CT,TT		37.4244,12.7442,29.066		290/396	82034854	9220,3778	2201	4298	6499	SO:0001819	synonymous_variant	4143	exon7			GCGGTCTACCTTG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.870A>G	10.37:g.82034854T>C		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	43	5	NM_000429	0	0	2	2	0	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																			T|0.236;C|0.764		0.617	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		C	82034854	T	C	82034854	2	2	61	1	0	0	0	0	0	0	0	1	9367	1509	53	4		4	MAT1A	10	82034854	Silent	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	12	82034854	53499893	39	12336			1	58		2	2	13	N	T_A	2.75219e-05
LRIT1	26103	broad.mit.edu;bcgsc.ca	37	chr10	85992141	85992141	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcacaatcacccgccGcatgctgtgctgcccaaaga	10	15	1	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:85992141G>T	ENST00000372105.3	-	4	1435	c.1414C>A	c.(1414-1416)Cgg>Agg	p.R472R		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	472	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATCACCCGCCGCATGCTGTGC	0.592																																					p.R472R		.											.	LRIT1-90	0			c.C1414A						.						64	51	55					10																	85992141		2203	4300	6503	SO:0001819	synonymous_variant	26103	exon4			CCCGCCGCATGCT	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1414C>A	10.37:g.85992141G>T		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	129	6	NM_015613	0	0	0	0	0	Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	CCDS7373.1																																																																																			.		0.592	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		T	85992141	G	T	85992141	2	4	61	1	0	0	0	0	0	0	0	1	8982	1086	38	2		2	LRIT1	10	85992141	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	3957287	85992141	49542606	40	12337											
C10orf95	79946	hgsc.bcm.edu	37	chr10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccggctgcggaagCtgtgggcctggactgggggt	20	11	0	0	rs2281878	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000473970.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4	6	5		253	0.9	1	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_024886	0	0	0	0	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		A	104210735	C	A	104210735	3	1	61	1	0	0	0	0	1	0	0	0	1631	797	28	3	524	3	C10orf95	10	104210735	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	18218594	104210735	31324012	41	12338											
ADD3	120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	111879036	111879036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgggagatgttgcctAttatgactaccaagggtcac	10	9	3	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr10:111879036A>G	ENST00000356080.4	+	7	1152	c.785A>G	c.(784-786)tAt>tGt	p.Y262C	ADD3_ENST00000360162.3_Missense_Mutation_p.Y262C|ADD3_ENST00000277900.8_Missense_Mutation_p.Y262C	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	262						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GATGTTGCCTATTATGACTAC	0.428																																					p.Y262C		.											.	ADD3-157	0			c.A785G						.						86	82	84					10																	111879036		2203	4300	6503	SO:0001583	missense	120	exon7			TTGCCTATTATGA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.785A>G	10.37:g.111879036A>G	ENSP00000348381:p.Tyr262Cys	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	93	34	NM_001121	0	0	1	2	1	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028056	0.54790	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.22743	1.94;1.94;1.94	6.17	6.17	0.99709	Class II aldolase/adducin, N-terminal (3);	0.051757	0.85682	D	0.000000	T	0.42494	0.1205	M	0.91510	3.215	0.58432	D	0.999999	B;B	0.31241	0.235;0.315	B;B	0.37888	0.26;0.233	T	0.46843	-0.9162	10	0.66056	D	0.02	-14.6662	16.8222	0.85835	1.0:0.0:0.0:0.0	.	262;262	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	C	262	ENSP00000353286:Y262C;ENSP00000348381:Y262C;ENSP00000277900:Y262C	ENSP00000277900:Y262C	Y	+	2	0	ADD3	111869026	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.363000	0.59473	2.371000	0.80710	0.533000	0.62120	TAT	.		0.428	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		G	111879036	A	G	111879036	3	3	61	1	0	0	0	0	1	0	0	0	306	449	16	4	807	4	ADD3	10	111879036	Missense_Mutation	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	7668301	111879036	23655711	42	12339											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092602	1092619	+	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC	-													caccactcccagccctccaaCcaccactcccagccctccaa					rs201595190|rs201608750|rs547682241	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr11:1092602_1092619delCCACCACTCCCAGCCCTC	ENST00000441003.2	+	30	4448_4465	c.4421_4438delCCACCACTCCCAGCCCTC	c.(4420-4440)accaccactcccagccctcca>aca	p.TTPSPP1475del	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Del_p.TTPSPP1476del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4210	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)	agccctccaaccaccactcccagccctccaaccaccac	0.628																																					p.1474_1480del		.											.	MUC2-90	0			c.4421_4438del						.			764,1992		44,676,658						-2.6	0		dbSNP_134	244	1546,3660		46,1454,1103	no	coding	MUC2	NM_002457.2		90,2130,1761	A1A1,A1R,RR		29.6965,27.7213,29.0128				2310,5652				SO:0001651	inframe_deletion	4583	exon30			CTCCAACCACCAC	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.4421_4438delCCACCACTCCCAGCCCTC	11.37:g.1092602_1092619delCCACCACTCCCAGCCCTC	ENSP00000415183:p.Thr1475_Pro1480del	Somatic	258	0		WXS	Illumina GAIIx	Phase_I	163	25	NM_002457	0	0	0	0	0	Q14878	In_Frame_Del	DEL	ENST00000441003.2	37																																																																																				.		0.628	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		-	1092619	CCACCACTCCCAGCCCTC	-	1092602	7	5	61	1	0	1	0	1	0	0	0	0	10013	507	18	0	4539	0	MUC2	11	1092602	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	TCGA-PK-A5H8-01A-11D-A29I-10		1092602	133913914	43	12340											
MUC5B	727897	bcgsc.ca	37	chr11	1250488	1250488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgcgcgcagctctgCgaggaccactgtgtggacgg	15	15	1	0	rs2075859	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr11:1250488C>T	ENST00000529681.1	+	9	1123	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	MUC5B_ENST00000447027.1_Silent_p.C355C|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	355	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCAGCTCTGCGAGGACCACT	0.682													c|||	1967	0.392772	0.2814	0.4366	5008	,	,		14317	0.6052		0.34	False		,,,				2504	0.3476				p.C355C		.											.	.	0			c.C1065T						.	C		1063,3051		143,777,1137	22	28	26		1065	-0.9	0.8	11	dbSNP_96	26	2915,5479		531,1853,1813	no	coding-synonymous	MUC5B	NM_002458.2		674,2630,2950	TT,TC,CC		34.7272,25.8386,31.8036		355/5763	1250488	3978,8530	2057	4197	6254	SO:0001819	synonymous_variant	727897	exon9			GCTCTGCGAGGAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1065C>T	11.37:g.1250488C>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	88	5	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.605;T|0.395		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1250488	C	T	1250488	2	4	61	1	0	0	0	0	0	0	0	1	10017	776	27	1		1	MUC5B	11	1250488	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	157886	1250488	133756028	44	12341											
MUC5B	727897	bcgsc.ca	37	chr11	1271429	1271429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggatccacggccacccCgtcctccaccccagggacca	8	21	0	0	rs2943516	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr11:1271429C>T	ENST00000529681.1	+	31	13377	c.13319C>T	c.(13318-13320)cCg>cTg	p.P4440L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P4443L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4440	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		P -> L (in dbSNP:rs2943516). {ECO:0000269|PubMed:9013550}.		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.682													-|||	2339	0.467053	0.3222	0.5476	5008	,	,		18729	0.6518		0.4423	False		,,,				2504	0.4407				p.P4440L		.											.	.	0			c.C13319T						.	C	LEU/PRO	1253,2885		195,863,1011	105	124	118		13319	-0.1	0	11	dbSNP_101	118	3605,4779		799,2007,1386	no	missense	MUC5B	NM_002458.2	98	994,2870,2397	TT,TC,CC		42.9986,30.2803,38.7957	benign	4440/5763	1271429	4858,7664	2069	4192	6261	SO:0001583	missense	727897	exon31			CCACCCCGTCCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13319C>T	11.37:g.1271429C>T	ENSP00000436812:p.Pro4440Leu	Somatic	980	9		WXS	Illumina GAIIx	Phase_I	563	15	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	1045	0.4784798534798535	151	0.30691056910569103	181	0.5	386	0.6748251748251748	327	0.4313984168865435	-	5.129	0.209405	0.09757	0.302803	0.429986	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17854	2.25;2.44	2.45	-0.0467	0.13846	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B;B	0.31931	0.347;0.347	B;B	0.13407	0.005;0.009	T	0.29336	-1.0015	8	0.87932	D	0	.	4.2572	0.10722	0.0:0.5967:0.2354:0.1679	rs2943516	4913;4443	A7Y9J9;E9PBJ0	.;.	L	4440;4443;4384;4290;219	ENSP00000436812:P4440L;ENSP00000415793:P4443L	ENSP00000343037:P4384L	P	+	2	0	MUC5B	1228005	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.119000	0.15626	0.155000	0.19261	0.298000	0.19748	CCG	C|0.522;T|0.479		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1271429	C	T	1271429	3	4	61	1	0	0	0	0	1	0	0	0	10017	652	23	1	13450	1	MUC5B	11	1271429	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	20941	1271429	133735087	45	12342											
CAPRIN1	4076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	34104425	34104425	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgaatcaacagagGtatgattttaatttaatgct	9	3	1	4			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr11:34104425G>T	ENST00000341394.4	+	8	1068		c.e8+1		CAPRIN1_ENST00000530820.1_Splice_Site|CAPRIN1_ENST00000532820.1_Splice_Site|CAPRIN1_ENST00000389645.3_Splice_Site|CAPRIN1_ENST00000529307.1_Splice_Site	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1						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)				ATCAACAGAGGTATGATTTTA	0.358																																					.		.											.	CAPRIN1-91	0			c.879+1G>T						.						114	114	114					11																	34104425		2202	4298	6500	SO:0001630	splice_region_variant	4076	exon8			ACAGAGGTATGAT	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.879+1G>T	11.37:g.34104425G>T		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	51	21	NM_203364	0	0	0	1	1	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Splice_Site	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731380	0.89390	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6574	0.95849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPRIN1	34061001	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.164000	0.94755	2.667000	0.90743	0.561000	0.74099	.	.		0.358	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898	Intron	T	34104425	G	T	34104425	5	4	61	1	0	0	0	0	0	0	1	0	2642	1275	44	3	906	3	CAPRIN1	11	34104425	Splice_Site	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	32832996	34104425	100902091	46	12343											
OR4C3	256144	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	48347234	48347234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctacattgtcatcctgTactccttgaggtcccacagt	6	15	1	1	rs539868535	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr11:48347234T>C	ENST00000319856.4	+	1	763	c.742T>C	c.(742-744)Tac>Cac	p.Y248H		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTCATCCTGTACTCCTTGAG	0.498													T|||	2	0.000399361	0	0	5008	,	,		21283	0		0	False		,,,				2504	0.002				p.Y248H		.											.	OR4C3-69	0			c.T742C						.						265	189	215					11																	48347234		2201	4298	6499	SO:0001583	missense	256144	exon1			ATCCTGTACTCCT	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.742T>C	11.37:g.48347234T>C	ENSP00000321419:p.Tyr248His	Somatic	357	0		WXS	Illumina GAIIx	Phase_I	222	13	NM_001004702	0	0	0	0	0	B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.445232	0.01089	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.37584	1.19	5.87	0.636	0.17729	GPCR, rhodopsin-like superfamily (1);	1.422780	0.04244	N	0.337508	T	0.15609	0.0376	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16217	-1.0410	10	0.09590	T	0.72	.	2.7646	0.05316	0.1267:0.5318:0.1229:0.2186	.	221	Q8NH37	OR4C3_HUMAN	H	248;111	ENSP00000321419:Y248H	ENSP00000321419:Y248H	Y	+	1	0	OR4C3	48303810	0.000000	0.05858	0.446000	0.26920	0.130000	0.20726	-5.923000	0.00090	-0.109000	0.12044	-1.364000	0.01208	TAC	.		0.498	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		C	48347234	T	C	48347234	3	2	61	1	0	0	0	0	1	0	0	0	11089	1638	57	4	744	4	OR4C3	11	48347234	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	14242809	48347234	86659282	47	12344											
PDE3A	5139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	20766633	20766633	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcttgctattccaaAggtaggtagtaatgacatac	9	7	0	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr12:20766633A>T	ENST00000359062.3	+	3	1308	c.1268A>T	c.(1267-1269)aAg>aTg	p.K423M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	423					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)	GCTATTCCAAAGGTAGGTAGT	0.408																																					p.K423M		.											.	PDE3A-94	0			c.A1268T						.						56	57	56					12																	20766633		2203	4300	6503	SO:0001630	splice_region_variant	5139	exon3			TTCCAAAGGTAGG		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.1269+1A>T	12.37:g.20766633A>T		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	70	33	NM_000921	0	0	0	0	0	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779572	0.49891	.	.	ENSG00000172572	ENST00000359062	T	0.53857	0.6	5.56	4.41	0.53225	.	2.520710	0.00669	N	0.000627	T	0.73071	0.3540	M	0.71206	2.165	0.54753	D	0.999989	D	0.65815	0.995	P	0.61397	0.888	T	0.48927	-0.8991	10	0.87932	D	0	.	11.5171	0.50529	0.9297:0.0:0.0703:0.0	.	423	Q14432	PDE3A_HUMAN	M	423	ENSP00000351957:K423M	ENSP00000351957:K423M	K	+	2	0	PDE3A	20657900	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.588000	0.74076	1.040000	0.40099	0.533000	0.62120	AAG	.		0.408	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Missense_Mutation	T	20766633	A	T	20766633	5	4	61	1	0	0	0	0	0	0	1	0	11676	86	3	5	1278	5	PDE3A	12	20766633	Splice_Site	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10		20766633	113085262	48	12345											
ASB8	140461	hgsc.bcm.edu;bcgsc.ca	37	chr12	48543591	48543603	+	Frame_Shift_Del	DEL	GCCCCGCTCTCTA	GCCCCGCTCTCTA	-													aatccagggcattgacagagGccccgctctctaggagagcc							TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	GCCCCGCTCTCTA	GCCCCGCTCTCTA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr12:48543591_48543603delGCCCCGCTCTCTA	ENST00000317697.3	-	4	582_594	c.413_425delTAGAGAGCGGGGC	c.(412-426)ctagagagcggggccfs	p.LESGA138fs	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Frame_Shift_Del_p.LESGA138fs|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	138					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ATTGACAGAGGCCCCGCTCTCTAGGAGAGCCCG	0.521																																					p.138_142del		.											.	ASB8-226	0			c.413_425del						.																																			SO:0001589	frameshift_variant	140461	exon4			ACAGAGGCCCCGC	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.413_425delTAGAGAGCGGGGC	12.37:g.48543591_48543603delGCCCCGCTCTCTA	ENSP00000320893:p.Leu138fs	Somatic	128	1		WXS	Illumina GAIIx	Phase_I	111	41	NM_024095	0	0	0	0	0	A8K1P2|Q547Q2	Frame_Shift_Del	DEL	ENST00000317697.3	37	CCDS8761.1																																																																																			.		0.521	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			-	48543603	GCCCCGCTCTCTA	-	48543591	7	5	61	1	0	1	0	1	0	0	0	0	1030	1203	42	0	445	0	ASB8	12	48543591	Frame_Shift_Del	DEL	GCCCCGCTCTCTA	TCGA-PK-A5H8-01A-11D-A29I-10	27776958	48543591	85308304	49	12346											
KRT1	3848	hgsc.bcm.edu	37	chr12	53069243	53069243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccggagccgtagctgcTacctccggagccatagctgc	11	16	0	0	rs77846840|rs540699806|rs267607656	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr12:53069243T>C	ENST00000252244.3	-	9	1727	c.1669A>G	c.(1669-1671)Agc>Ggc	p.S557G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccgtagctgctacctccggag	0.682																																					p.S557G		.											.	KRT1-92	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)	c.A1669G						.						4	4	4					12																	53069243		1805	3566	5371	SO:0001583	missense	3848	exon9			AGCTGCTACCTCC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669A>G	12.37:g.53069243T>C	ENSP00000252244:p.Ser557Gly	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	45	11	NM_006121	0	0	0	0	0	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	t	12.77	2.037794	0.35989	.	.	ENSG00000167768	ENST00000252244	T	0.81247	-1.47	3.63	0.628	0.17681	.	.	.	.	.	T	0.54711	0.1875	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	8	0.07644	T	0.81	.	5.639	0.17552	0.0:0.6406:0.1602:0.1993	.	557	P04264	K2C1_HUMAN	G	557	ENSP00000252244:S557G	ENSP00000252244:S557G	S	-	1	0	KRT1	51355510	0.000000	0.05858	0.034000	0.17996	0.201000	0.24016	-0.192000	0.09587	-0.104000	0.12154	-1.598000	0.00824	AGC	T|0.500;C|0.500		0.682	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		C	53069243	T	C	53069243	3	2	61	1	0	0	0	0	1	0	0	0	8474	1522	53	4	269	4	KRT1	12	53069243	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	4525652	53069243	80782652	50	12347											
NUAK1	9891	bcgsc.ca	37	chr12	106460938	106460938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attccagtgtgggcatttcaGggctgaccagggctgggtcc	15	10	1	1	rs3741883	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr12:106460938G>C	ENST00000261402.2	-	7	3007	c.1628C>G	c.(1627-1629)cCt>cGt	p.P543R		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	543			P -> R (in dbSNP:rs3741883). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.P543R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGGCATTTCAGGGCTGACCAG	0.622													G|||	1109	0.221446	0.0408	0.2133	5008	,	,		15631	0.4177		0.2207	False		,,,				2504	0.2699				p.P543R		.											.	NUAK1-359	2	Substitution - Missense(2)	stomach(2)	c.C1628G						.	G	ARG/PRO	306,4100	162.2+/-194.2	11,284,1908	60	67	65		1628	5.5	1	12	dbSNP_107	65	1961,6639	342.1+/-324.3	237,1487,2576	yes	missense	NUAK1	NM_014840.2	103	248,1771,4484	CC,CG,GG		22.8023,6.9451,17.4304	possibly-damaging	543/662	106460938	2267,10739	2203	4300	6503	SO:0001583	missense	9891	exon7			ATTTCAGGGCTGA	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1628C>G	12.37:g.106460938G>C	ENSP00000261402:p.Pro543Arg	Somatic	190	2		WXS	Illumina GAIIx	Phase_I	203	7	NM_014840	0	0	4	4	0	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	504	0.23076923076923078	21	0.042682926829268296	76	0.20994475138121546	243	0.42482517482517484	164	0.21635883905013192	G	9.640	1.138832	0.21123	0.069451	0.228023	ENSG00000074590	ENST00000261402	T	0.73575	-0.76	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000012	T	0.00012	0.0000	N	0.08118	0	0.26688	P	0.9714141	P	0.49961	0.93	B	0.42319	0.383	T	0.30937	-0.9961	9	0.27082	T	0.32	.	12.7544	0.57325	0.0749:0.0:0.9251:0.0	rs3741883;rs3741883	543	O60285	NUAK1_HUMAN	R	543	ENSP00000261402:P543R	ENSP00000261402:P543R	P	-	2	0	NUAK1	104985068	1.000000	0.71417	0.994000	0.49952	0.204000	0.24138	3.525000	0.53502	2.596000	0.87737	0.462000	0.41574	CCT	G|0.795;C|0.205		0.622	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		C	106460938	G	C	106460938	3	2	61	1	0	0	0	0	1	0	0	0	10751	1000	35	3	361	3	NUAK1	12	106460938	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	53391695	106460938	27390957	51	12348											
SUDS3	64426	hgsc.bcm.edu;bcgsc.ca	37	chr12	118852225	118852225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcgtgatccgccggcGctcagctgcttgactttcta	10	14	3	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr12:118852225G>T	ENST00000543473.1	+	12	1286	c.974G>T	c.(973-975)cGc>cTc	p.R325L	SUDS3_ENST00000397564.2_Missense_Mutation_p.R326L	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	325					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCGCCGGCGCTCAGCTGCT	0.488																																					p.R325L		.											.	SUDS3-90	0			c.G974T						.						27	26	26					12																	118852225		1873	4101	5974	SO:0001583	missense	64426	exon12			GCCGGCGCTCAGC	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.974G>T	12.37:g.118852225G>T	ENSP00000443988:p.Arg325Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	53	4	NM_022491	0	0	23	23	0	Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265617	0.95399	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.71036	2.16	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.80291	-0.1444	9	0.87932	D	0	-10.1404	19.4422	0.94825	0.0:0.0:1.0:0.0	.	325	Q9H7L9	SDS3_HUMAN	L	325;326	.	ENSP00000380695:R326L	R	+	2	0	SUDS3	117336608	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.168000	0.94781	2.688000	0.91661	0.655000	0.94253	CGC	.		0.488	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		T	118852225	G	T	118852225	3	4	61	1	0	0	0	0	1	0	0	0	15414	1087	38	2	1020	2	SUDS3	12	118852225	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	12391287	118852225	14999670	52	12349											
GJB2	2706	bcgsc.ca	37	chr13	20763642	20763642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcgaaaaatgaagaggaCggtgagccagatctttccaa	11	7	1	4	rs2274084	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr13:20763642C>T	ENST00000382844.1	-	1	277	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	GJB2_ENST00000382848.4_Missense_Mutation_p.V27I			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	27			V -> I (in dbSNP:rs2274084). {ECO:0000269|PubMed:10607953, ECO:0000269|PubMed:12560944, ECO:0000269|PubMed:12746422, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15666300, ECO:0000269|PubMed:19416251, ECO:0000269|PubMed:9529365}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ATGAAGAGGACGGTGAGCCAG	0.552									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	360	0.071885	0.003	0.1354	5008	,	,		21571	0.256		0	False		,,,				2504	0.0041				p.V27I		.											.	GJB2-90	0			c.G79A	GRCh37	CM013720	GJB2	M	rs2274084	.	C	ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	146	120	129	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	79	5.2	1	13	dbSNP_100	129	18,8582	14.6+/-50.1	0,18,4282	yes	missense	GJB2	NM_004004.5	29	0,33,6470	TT,TC,CC		0.2093,0.3404,0.2537	probably-damaging	27/227	20763642	33,12973	2203	4300	6503	SO:0001583	missense	2706	exon2	Familial Cancer Database	KID syndrome	AGAGGACGGTGAG	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.79G>A	13.37:g.20763642C>T	ENSP00000372295:p.Val27Ile	Somatic	421	6	743	WXS	Illumina GAIIx	Phase_I	267	8	NM_004004	0	0	2	2	0	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	CCDS9290.1	226	0.10347985347985347	3	0.006097560975609756	29	0.08011049723756906	194	0.33916083916083917	0	0.0	C	16.83	3.231666	0.58777	0.003404	0.002093	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.99226	-5.59;-5.59	5.21	5.21	0.72293	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.00109	0.0003	M	0.64170	1.965	0.09310	P	0.99999999762751	D	0.89917	1.0	D	0.87578	0.998	T	0.00000	-1.7935	9	0.35671	T	0.21	.	19.1211	0.93364	0.0:1.0:0.0:0.0	rs2274084;rs2274084	27	P29033	CXB2_HUMAN	I	27	ENSP00000372299:V27I;ENSP00000372295:V27I	ENSP00000372295:V27I	V	-	1	0	GJB2	19661642	1.000000	0.71417	0.954000	0.39281	0.125000	0.20455	5.995000	0.70631	2.571000	0.86741	0.655000	0.94253	GTC	C|0.947;T|0.053		0.552	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			T	20763642	C	T	20763642	3	4	61	1	0	0	0	0	1	0	0	0	6434	536	19	1	605	1	GJB2	13	20763642	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		20763642	94406236	53	12350											
ARHGEF7	8874	bcgsc.ca	37	chr13	111870037	111870037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttttaggacatgaccgaTaatagcaacaatcaactggt	7	10	1	1	rs2296354	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr13:111870037T>C	ENST00000375741.2	+	6	793	c.543T>C	c.(541-543)gaT>gaC	p.D181D	ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375739.2_Silent_p.D131D|ARHGEF7_ENST00000317133.5_Silent_p.D160D|ARHGEF7_ENST00000375736.4_Silent_p.D3D|ARHGEF7_ENST00000218789.5_Silent_p.D3D|ARHGEF7_ENST00000375723.1_Silent_p.D3D|ARHGEF7_ENST00000375737.5_Silent_p.D78D|ARHGEF7_ENST00000370623.3_Silent_p.D88D|ARHGEF7_ENST00000426073.2_Silent_p.D3D	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	181					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGACCGATAATAGCAACA	0.388													T|||	1246	0.248802	0.025	0.1225	5008	,	,		18731	0.6825		0.174	False		,,,				2504	0.271				p.D181D		.											.	ARHGEF7-232	0			c.T543C						.	T	,,,,	223,4183	134.5+/-170.7	3,217,1983	115	109	111		543,393,9,9,480	-3.1	0.4	13	dbSNP_100	111	1437,7163	276.7+/-292.4	115,1207,2978	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF7	NM_001113511.1,NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2	,,,,	118,1424,4961	CC,CT,TT		16.7093,5.0613,12.7633	,,,,	181/804,131/754,3/647,3/647,160/783	111870037	1660,11346	2203	4300	6503	SO:0001819	synonymous_variant	8874	exon6			GACCGATAATAGC	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.543T>C	13.37:g.111870037T>C		Somatic	304	1		WXS	Illumina GAIIx	Phase_I	195	6	NM_001113511	0	0	0	0	0	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1																																																																																			T|0.807;C|0.193		0.388	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		C	111870037	T	C	111870037	2	2	61	1	0	0	0	0	0	0	0	1	911	1403	49	4		4	ARHGEF7	13	111870037	Silent	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	91106395	111870037	3299841	54	12351											
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	54307147	54307147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgattatgaaacaaacagtCtttttgaccaacagcttgat	6	7	1	4	rs376158849		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr15:54307147C>G	ENST00000260323.11	+	1	2047	c.2047C>G	c.(2047-2049)Ctt>Gtt	p.L683V	UNC13C_ENST00000545554.1_Missense_Mutation_p.L683V|UNC13C_ENST00000537900.1_Missense_Mutation_p.L683V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	683					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)		AACAAACAGTCTTTTTGACCA	0.398																																					p.L683V		.											.	UNC13C-51	0			c.C2047G						.						75	71	73					15																	54307147		1852	4107	5959	SO:0001583	missense	440279	exon1			AACAGTCTTTTTG	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.2047C>G	15.37:g.54307147C>G	ENSP00000260323:p.Leu683Val	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	83	10	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	1.227	-0.625118	0.03610	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79033	-1.23;-1.23;-1.23	5.18	0.0773	0.14407	.	.	.	.	.	T	0.57198	0.2037	N	0.19112	0.55	0.24783	N	0.992809	B	0.34015	0.435	B	0.29598	0.104	T	0.38693	-0.9649	9	0.15499	T	0.54	.	9.1662	0.37052	0.0:0.6279:0.0:0.3721	.	683	Q8NB66	UN13C_HUMAN	V	683	ENSP00000260323:L683V;ENSP00000438156:L683V;ENSP00000442569:L683V	ENSP00000260323:L683V	L	+	1	0	UNC13C	52094439	0.988000	0.35896	0.421000	0.26609	0.104000	0.19210	1.127000	0.31357	-0.128000	0.11641	-0.143000	0.13931	CTT	.		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		G	54307147	C	G	54307147	3	3	61	1	0	0	0	0	1	0	0	0	17035	913	32	3	2049	3	UNC13C	15	54307147	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		54307147	48224245	55	12352											
MYO15A	51168	bcgsc.ca	37	chr17	18041507	18041507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcatcaacctcatctcaCtgaagccttatggcatcctg	6	15	3	1	rs2280777	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr17:18041507C>T	ENST00000205890.5	+	17	5292	c.4954C>T	c.(4954-4956)Ctg>Ttg	p.L1652L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1652	Myosin motor.				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)					CCTCATCTCACTGAAGCCTTA	0.562													C|||	2397	0.478634	0.4047	0.5735	5008	,	,		15838	0.5933		0.5209	False		,,,				2504	0.3497				p.L1652L		.											.	MYO15A-97	0			c.C4954T						.	C		1901,2475	491.5+/-362.1	428,1045,715	109	111	111		4954	2.5	0.7	17	dbSNP_100	111	4595,3985	580.7+/-391.1	1247,2101,942	yes	coding-synonymous	MYO15A	NM_016239.3		1675,3146,1657	TT,TC,CC		46.4452,43.4415,49.8611		1652/3531	18041507	6496,6460	2188	4290	6478	SO:0001819	synonymous_variant	51168	exon16			ATCTCACTGAAGC	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.4954C>T	17.37:g.18041507C>T		Somatic	129	1		WXS	Illumina GAIIx	Phase_I	82	5	NM_016239	0	0	0	0	0	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																			C|0.501;N|0.000		0.562	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18041507	C	T	18041507	2	4	61	1	0	0	0	0	0	0	0	1	10101	564	20	3		3	MYO15A	17	18041507	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		18041507	63153703	56	12353											
CCL4L1	388372	broad.mit.edu	37	chr17	34641466	34641466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagattccaaaccaaaagaGgcaagcaagtctgcgctgac	9	11	1	3	rs148287175	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr17:34641466G>A	ENST00000394465.2	+	3	525	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	TBC1D3C_ENST00000451448.2_Intron|TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Silent_p.E31E			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2	70					cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACCAAAAGAGGCAAGCAAGT	0.512													g|||	15	0.00299521	0	0.0029	5008	,	,		21349	0.004		0.003	False		,,,				2504	0.0061				p.G70S		.											.	CCL4L2-46	0			c.G208A						.	G	SER/GLY	10,4292		2,6,2143	182	128	147		208	3.1	1	17	dbSNP_134	147	47,8123		9,29,4047	no	missense	CCL4L2	NM_207007.2	56	11,35,6190	AA,AG,GG		0.5753,0.2325,0.457	probably-damaging	70/93	34641466	57,12415	2151	4085	6236	SO:0001583	missense	388372	exon3			AAAAGAGGCAAGC			17q12	2005-08-09			ENSG00000197262			"Chemokine ligands"	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.208G>A	17.37:g.34641466G>A	ENSP00000377978:p.Gly70Ser	Somatic	529	0		WXS	Illumina GAIIx	Phase_I	159	4	NM_207007	0	0	60	60	0	B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	ENST00000394465.2	37	CCDS11311.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670233	0.47677	0.002325	0.005753	ENSG00000197262	ENST00000394465	T	0.08193	3.12	3.1	3.1	0.35709	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.094754	0.41500	N	0.000865	T	0.14098	0.0341	.	.	.	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	T	0.00492	-1.1707	9	0.49607	T	0.09	.	9.7923	0.40713	0.0:0.0:1.0:0.0	.	70	Q8NHW4	CC4L_HUMAN	S	70	ENSP00000377978:G70S	ENSP00000377978:G70S	G	+	1	0	CCL4L2	31665579	1.000000	0.71417	0.987000	0.45799	0.432000	0.31715	5.027000	0.64109	1.306000	0.44926	0.420000	0.28162	GGC	G|0.997;A|0.003		0.512	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007		A	34641466	G	A	34641466	3	1	61	1	0	0	0	0	1	0	0	0	2910	1000	35	3	509	3	CCL4L1	17	34641466	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	16599959	34641466	46553744	57	12354											
EPN3	55040	bcgsc.ca	37	chr17	48614119	48614119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggctcaatgacagcGgcaagaactggcggcacgtg	17	11	1	2	rs564194484		TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr17:48614119G>T	ENST00000268933.3	+	2	781	c.202G>T	c.(202-204)Ggc>Tgc	p.G68C	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.G123C|EPN3_ENST00000541226.1_Missense_Mutation_p.G12C	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	68	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CAATGACAGCGGCAAGAACTG	0.607																																					p.G68C		.											.	EPN3-91	0			c.G202T						.						89	85	86					17																	48614119		2203	4300	6503	SO:0001583	missense	55040	exon2			GACAGCGGCAAGA	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.202G>T	17.37:g.48614119G>T	ENSP00000268933:p.Gly68Cys	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	131	5	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017021	0.93404	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T;T	0.49432	0.78;0.78;0.8;0.8;0.78;0.78	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.054286	0.64402	D	0.000001	T	0.80336	0.4604	H	0.97158	3.95	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	0.87324	0.2320	10	0.87932	D	0	-29.1592	18.5277	0.90978	0.0:0.0:1.0:0.0	.	123;123;68	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	C	68;68;123;123;12;68;68;68	ENSP00000268933:G68C;ENSP00000426762:G68C;ENSP00000439512:G123C;ENSP00000440540:G12C;ENSP00000422601:G68C;ENSP00000421515:G68C	ENSP00000268933:G68C	G	+	1	0	EPN3	45969118	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	9.838000	0.99474	2.468000	0.83385	0.561000	0.74099	GGC	.		0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		T	48614119	G	T	48614119	3	4	61	1	0	0	0	0	1	0	0	0	5203	1116	39	2	204	2	EPN3	17	48614119	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	13972653	48614119	32581091	58	12355											
UNK	85451	broad.mit.edu;bcgsc.ca	37	chr17	73806016	73806016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtctactgcaccaagtacGacgaggctacaggcctctgc	10	14	2	0			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr17:73806016G>A	ENST00000589666.1	+	2	390	c.280G>A	c.(280-282)Gac>Aac	p.D94N	UNK_ENST00000293218.3_Missense_Mutation_p.D170N	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	94							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCAAGTACGACGAGGCTAC	0.642																																					p.D94N		.											.	UNK-68	0			c.G280A						.						47	52	51					17																	73806016		2128	4250	6378	SO:0001583	missense	85451	exon2			AAGTACGACGAGG	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.280G>A	17.37:g.73806016G>A	ENSP00000464893:p.Asp94Asn	Somatic	301	0		WXS	Illumina GAIIx	Phase_I	202	8	NM_001080419	0	0	2	2	0		Missense_Mutation	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	35	5.518646	0.96416	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.22	5.22	0.72569	Zinc finger, CCCH-type (2);	0.047724	0.85682	D	0.000000	T	0.65749	0.2721	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.53224	0.721	T	0.64740	-0.6336	9	0.37606	T	0.19	-11.2012	18.7781	0.91920	0.0:0.0:1.0:0.0	.	94	Q9C0B0	UNK_HUMAN	N	170	.	ENSP00000293218:D170N	D	+	1	0	UNK	71317611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.434000	0.82447	0.561000	0.74099	GAC	.		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		A	73806016	G	A	73806016	3	1	61	1	0	0	0	0	1	0	0	0	17049	1058	37	1	518	1	UNK	17	73806016	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	25191897	73806016	7389194	59	12356											
DSG3	1830	hgsc.bcm.edu	37	chr18	29049127	29049127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccctggtacttacagacaGtcagaacaatcggtgtgaga	10	10	1	3			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr18:29049127G>T	ENST00000257189.4	+	12	1795	c.1712G>T	c.(1711-1713)aGt>aTt	p.S571I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	571					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTACAGACAGTCAGAACAAT	0.512																																					p.S571I		.											.	DSG3-98	0			c.G1712T						.						155	142	146					18																	29049127		2203	4300	6503	SO:0001583	missense	1830	exon12			CAGACAGTCAGAA	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1712G>T	18.37:g.29049127G>T	ENSP00000257189:p.Ser571Ile	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_001944	0	0	0	0	0	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425896	0.25726	.	.	ENSG00000134757	ENST00000257189	T	0.61510	0.1	5.95	0.859	0.19036	.	1.306660	0.05230	N	0.510130	T	0.51686	0.1689	L	0.55990	1.75	0.09310	N	1	B	0.25563	0.129	B	0.25884	0.064	T	0.41016	-0.9532	10	0.54805	T	0.06	.	5.1527	0.15019	0.4648:0.1465:0.3887:0.0	.	571	P32926	DSG3_HUMAN	I	571	ENSP00000257189:S571I	ENSP00000257189:S571I	S	+	2	0	DSG3	27303125	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.678000	0.25277	-0.122000	0.11766	-1.567000	0.00876	AGT	.		0.512	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29049127	G	T	29049127	3	4	61	1	0	0	0	0	1	0	0	0	4792	1029	36	3	1758	3	DSG3	18	29049127	Missense_Mutation	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		29049127	49028121	60	12357											
FZR1	51343	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	3527019	3527019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccccgatgacggcaaCgatgtgtctccctactccct	8	17	1	1	rs138835338	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:3527019C>T	ENST00000395095.3	+	5	429	c.429C>T	c.(427-429)aaC>aaT	p.N143N	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Silent_p.N143N	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	143					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACGGCAACGATGTGTCTC	0.647													C|||	13	0.00259585	0	0.0014	5008	,	,		15526	0		0.004	False		,,,				2504	0.0082				p.N143N		.											.	FZR1-227	0			c.C429T						.	C	,,	11,4395	17.9+/-39.9	0,11,2192	207	138	161		,429,429	-7.4	0.7	19	dbSNP_134	161	55,8541	35.3+/-89.8	0,55,4243	no	intron,coding-synonymous,coding-synonymous	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	,,	0,66,6435	TT,TC,CC		0.6398,0.2497,0.5076	,,	,143/497,143/494	3527019	66,12936	2203	4298	6501	SO:0001819	synonymous_variant	51343	exon5			CGGCAACGATGTG	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.429C>T	19.37:g.3527019C>T		Somatic	200	1		WXS	Illumina GAIIx	Phase_I	257	114	NM_001136198	0	0	29	50	21	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	CCDS45916.1																																																																																			C|0.996;T|0.004		0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		T	3527019	C	T	3527019	2	4	61	1	0	0	0	0	0	0	0	1	6162	535	19	1		1	FZR1	19	3527019	Silent	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		3527019	55601964	61	12358											
TMEM146	257062	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	5744509	5744509	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggttgcgatgcttgtagtGaatcaagggaaggtaagtaa	14	4	1	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:5744509G>T	ENST00000381624.3	+	8	706	c.645G>T	c.(643-645)gtG>gtT	p.V215V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	215					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)											TGCTTGTAGTGAATCAAGGGA	0.403																																					p.V215V		.											.	.	0			c.G645T						.						166	145	151					19																	5744509		1839	4097	5936	SO:0001819	synonymous_variant	257062	exon8			TGTAGTGAATCAA	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.645G>T	19.37:g.5744509G>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	82	5	NM_152784	0	0	0	0	0	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																			.		0.403	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5744509	G	T	5744509	2	4	61	1	0	0	0	0	0	0	0	1	16107	1277	45	3		3	TMEM146	19	5744509	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10	2217490	5744509	53384474	62	12359											
ZNF546	339327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	40520583	40520583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggtgagaaaccctAtgaatgtaaggaatgtggga	12	5	1	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:40520583A>G	ENST00000347077.4	+	7	1622	c.1406A>G	c.(1405-1407)tAt>tGt	p.Y469C	ZNF546_ENST00000600094.1_Missense_Mutation_p.Y443C|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)					GAGAAACCCTATGAATGTAAG	0.408																																					p.Y469C		.											.	ZNF546-155	0			c.A1406G						.						73	75	74					19																	40520583		2203	4300	6503	SO:0001583	missense	339327	exon7			AACCCTATGAATG	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.1406A>G	19.37:g.40520583A>G	ENSP00000339823:p.Tyr469Cys	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	57	25	NM_178544	0	1	24	25	0	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	13.73	2.325685	0.41197	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.25414	1.8	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52773	0.1755	M	0.87180	2.865	0.27541	N	0.950785	D	0.89917	1.0	D	0.78314	0.991	T	0.42015	-0.9476	9	0.87932	D	0	.	9.5585	0.39355	1.0:0.0:0.0:0.0	.	469	Q86UE3	ZN546_HUMAN	C	469;106	ENSP00000339823:Y469C	ENSP00000339823:Y469C	Y	+	2	0	ZNF546	45212423	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.012000	0.13287	1.564000	0.49628	0.533000	0.62120	TAT	.		0.408	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		G	40520583	A	G	40520583	3	3	61	1	0	0	0	0	1	0	0	0	18026	449	16	4	1424	4	ZNF546	19	40520583	Missense_Mutation	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	34776074	40520583	18608400	63	12360											
CTU1	90353	hgsc.bcm.edu	37	chr19	51602298	51602298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcgcggcagggcgcccccctCgccgggagagcccaggcccc	16	20	0	1	rs12983578	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:51602298C>G	ENST00000421832.2	-	3	651	c.607G>C	c.(607-609)Gag>Cag	p.E203Q		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1											large_intestine(2)|lung(1)|urinary_tract(1)	4						gcgcccccctcgccgggagag	0.726													C|||	357	0.0712859	0.0129	0.0663	5008	,	,		5363	0.0625		0.166	False		,,,				2504	0.0654				p.E203Q		.											.	CTU1-68	0			c.G607C						.	C	GLN/GLU	80,3254		0,80,1587	2	3	3		607	3.7	1	19	dbSNP_121	3	703,5807		27,649,2579	no	missense	CTU1	NM_145232.3	29	27,729,4166	GG,GC,CC		10.7988,2.3995,7.9541	probably-damaging	203/349	51602298	783,9061	1667	3255	4922	SO:0001583	missense	90353	exon3			CCCCCTCGCCGGG		CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"ATP binding domain 3", "cytosolic thiouridylase subunit 1 homolog (S. pombe)"	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.607G>C	19.37:g.51602298C>G	ENSP00000390011:p.Glu203Gln	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	5	4	NM_145232	0	0	0	1	1		Missense_Mutation	SNP	ENST00000421832.2	37	CCDS12824.1	217	0.09935897435897435	20	0.04065040650406504	27	0.07458563535911603	34	0.05944055944055944	136	0.17941952506596306	.	17.62	3.434094	0.62955	0.023995	0.107988	ENSG00000142544	ENST00000421832	T	0.43294	0.95	3.66	3.66	0.41972	Rossmann-like alpha/beta/alpha sandwich fold (1);tRNA(Ile)-lysidine/2-thiocytidine synthase (1);	0.000000	0.85682	D	0.000000	T	0.00178	0.0005	M	0.69523	2.12	0.23991	P	0.99624278	D	0.69078	0.997	D	0.66084	0.941	T	0.09574	-1.0668	9	0.46703	T	0.11	-14.0205	7.3785	0.26841	0.0:0.873:0.0:0.127	rs12983578	203	Q7Z7A3	CTU1_HUMAN	Q	203	ENSP00000390011:E203Q	ENSP00000390011:E203Q	E	-	1	0	CTU1	56294110	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.267000	0.51577	1.733000	0.51620	0.505000	0.49811	GAG	C|0.900;G|0.100		0.726	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464292.1	NM_145232		G	51602298	C	G	51602298	3	3	61	1	0	0	0	0	1	0	0	0	4056	893	31	2	443	2	CTU1	19	51602298	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	11081715	51602298	7526685	64	12361											
ZFP28	140612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	57051018	57051018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttccagggacactgctcTtccccaggagagaaacaaga	10	13	1	2			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:57051018T>C	ENST00000301318.3	+	2	304	c.233T>C	c.(232-234)cTt>cCt	p.L78P	ZFP28_ENST00000591844.1_Missense_Mutation_p.L78P|ZFP28_ENST00000594386.1_3'UTR|AC005498.3_ENST00000593218.1_lincRNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GACACTGCTCTTCCCCAGGAG	0.507																																					p.L78P	Ovarian(124;554 1662 19430 21141 52494)	.											.	ZFP28-91	0			c.T233C						.						117	114	115					19																	57051018		2203	4300	6503	SO:0001583	missense	140612	exon2			CTGCTCTTCCCCA		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.233T>C	19.37:g.57051018T>C	ENSP00000301318:p.Leu78Pro	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	129	66	NM_020828	0	0	0	2	2	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	4.309	0.056578	0.08291	.	.	ENSG00000196867	ENST00000301318	T	0.07567	3.18	3.8	-0.848	0.10727	.	1.143450	0.06877	N	0.801790	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.15719	0.001;0.014	B;B	0.12156	0.002;0.007	T	0.44667	-0.9313	10	0.36615	T	0.2	.	7.5096	0.27566	0.0:0.4264:0.0:0.5736	.	78;78	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	P	78	ENSP00000301318:L78P	ENSP00000301318:L78P	L	+	2	0	ZFP28	61742830	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.068000	0.14531	-0.393000	0.07739	-0.464000	0.05259	CTT	.		0.507	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		C	57051018	T	C	57051018	3	2	61	1	0	0	0	0	1	0	0	0	17690	1609	56	4	239	4	ZFP28	19	57051018	Missense_Mutation	SNP	T	TCGA-PK-A5H8-01A-11D-A29I-10	5448720	57051018	2077965	65	12362											
ZNF814	730051	ucsc.edu	37	chr19	58384712	58384712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataaggtctttctccagtAtggccatgctggtgtagaat	10	8	2	1			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr19:58384712A>G	ENST00000435989.2	-	3	2280	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	682					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCTCCAGTATGGCCATGCT	0.408																																					p.H682H		.											.	.	0			c.T2046C						.						68	57	60					19																	58384712		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TCCAGTATGGCCA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2046T>C	19.37:g.58384712A>G		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	233	1	NM_001144989	0	0	2	3	1	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		G	58384712	A	G	58384712	2	3	61	1	0	0	0	0	0	0	0	1	18224	446	16	4		4	ZNF814	19	58384712	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	1333694	58384712	744271	66	12363											
TGM6	343641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2384245	2384245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgttccggtgcggccCagcctcagtcaccgccatcc	12	16	2	0			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr20:2384245C>T	ENST00000202625.2	+	9	1173	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	TGM6_ENST00000381423.1_Missense_Mutation_p.P371L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	371					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGGTGCGGCCCAGCCTCAGTC	0.622																																					p.P371L		.											.	TGM6-94	0			c.C1112T						.						92	83	86					20																	2384245		2203	4300	6503	SO:0001583	missense	343641	exon9			GCGGCCCAGCCTC	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1112C>T	20.37:g.2384245C>T	ENSP00000202625:p.Pro371Leu	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	136	32	NM_198994	0	0	0	0	0	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605102	0.66445	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95980	-3.87;-3.87	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97720	1.0196	10	0.87932	D	0	-18.0498	16.0187	0.80464	0.0:1.0:0.0:0.0	.	371;371	O95932-2;O95932	.;TGM3L_HUMAN	L	371	ENSP00000202625:P371L;ENSP00000370831:P371L	ENSP00000202625:P371L	P	+	2	0	TGM6	2332245	1.000000	0.71417	0.970000	0.41538	0.275000	0.26752	7.607000	0.82883	2.735000	0.93741	0.549000	0.68633	CCA	.		0.622	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2384245	C	T	2384245	3	4	61	1	0	0	0	0	1	0	0	0	15881	594	21	3	1146	3	TGM6	20	2384245	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10		2384245	60641275	67	12364											
CRYBB2	1415	bcgsc.ca	37	chr22	25627604	25627604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaccccggctaccgtggGctgcagtacctgctggagaa	13	13	0	1	rs8140949	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr22:25627604G>A	ENST00000398215.2	+	6	654	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	161	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCTACCGTGGGCTGCAGTACC	0.632													G|||	1654	0.330272	0.2784	0.2839	5008	,	,		17136	0.4325		0.2058	False		,,,				2504	0.456				p.G161G		.											.	CRYBB2-90	0			c.G483A						.	G		1214,3192	421.5+/-339.4	180,854,1169	98	91	94		483	0.6	1	22	dbSNP_116	94	1820,6780	326.6+/-317.4	202,1416,2682	no	coding-synonymous	CRYBB2	NM_000496.2		382,2270,3851	AA,AG,GG		21.1628,27.5533,23.3277		161/206	25627604	3034,9972	2203	4300	6503	SO:0001819	synonymous_variant	1415	exon6			CCGTGGGCTGCAG		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.483G>A	22.37:g.25627604G>A		Somatic	489	3		WXS	Illumina GAIIx	Phase_I	169	8	NM_000496	0	0	0	0	0	Q9UCM8	Silent	SNP	ENST00000398215.2	37	CCDS13831.1																																																																																			G|0.755;A|0.245		0.632	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		A	25627604	G	A	25627604	2	1	61	1	0	0	0	0	0	0	0	1	3918	1190	42	3		3	CRYBB2	22	25627604	Silent	SNP	G	TCGA-PK-A5H8-01A-11D-A29I-10		25627604	25676962	68	12365											
GAL3ST1	9514	bcgsc.ca	37	chr22	30953295	30953295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacggcataggagtacaCcagcagcaggaaactagtga	14	9	0	1	rs2267161	byFrequency	TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chr22:30953295C>T	ENST00000402321.1	-	2	402	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V29M|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V29M|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V29M|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V29M			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	29			V -> M (in dbSNP:rs2267161). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TAGGAGTACACCAGCAGCAGG	0.652													C|||	1552	0.309904	0.3646	0.2536	5008	,	,		17788	0.3502		0.326	False		,,,				2504	0.2178				p.V29M		.											.	GAL3ST1-90	0			c.G85A						.	C	MET/VAL	1647,2759	502.0+/-365.1	326,995,882	89	91	91		85	1.1	0.9	22	dbSNP_100	91	2732,5868	436.8+/-358.4	420,1892,1988	yes	missense	GAL3ST1	NM_004861.1	21	746,2887,2870	TT,TC,CC		31.7674,37.3808,33.6691	benign	29/424	30953295	4379,8627	2203	4300	6503	SO:0001583	missense	9514	exon3			AGTACACCAGCAG	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.85G>A	22.37:g.30953295C>T	ENSP00000385735:p.Val29Met	Somatic	669	5		WXS	Illumina GAIIx	Phase_I	237	8	NM_004861	0	0	0	0	0	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	691	0.3163919413919414	167	0.3394308943089431	90	0.24861878453038674	197	0.34440559440559443	237	0.31266490765171506	C	13.74	2.327313	0.41197	0.373808	0.317674	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.58	1.09	0.20402	.	0.269973	0.36268	N	0.002686	T	0.00012	0.0000	N	0.14661	0.345	0.09310	P	0.9999999999999958	B	0.25904	0.137	B	0.29716	0.106	T	0.49495	-0.8934	9	0.33141	T	0.24	-10.4855	7.6791	0.28502	0.2039:0.1191:0.677:0.0	rs2267161;rs17845430;rs17856591;rs17858302;rs61593263;rs2267161	29	Q99999	G3ST1_HUMAN	M	29	ENSP00000385825:V29M;ENSP00000385735:V29M;ENSP00000384122:V29M;ENSP00000384388:V29M;ENSP00000343234:V29M;ENSP00000385207:V29M;ENSP00000402587:V29M;ENSP00000390545:V29M;ENSP00000395080:V29M;ENSP00000405017:V29M;ENSP00000401426:V29M;ENSP00000391485:V29M;ENSP00000397092:V29M;ENSP00000391996:V29M;ENSP00000405381:V29M;ENSP00000401074:V29M;ENSP00000389876:V29M;ENSP00000398380:V29M;ENSP00000414542:V29M;ENSP00000412995:V29M;ENSP00000394912:V29M;ENSP00000399649:V29M;ENSP00000390068:V29M	ENSP00000343234:V29M	V	-	1	0	GAL3ST1	29283295	1.000000	0.71417	0.931000	0.37212	0.726000	0.41606	1.007000	0.29860	0.316000	0.23135	-0.147000	0.13772	GTG	C|0.672;T|0.328		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		T	30953295	C	T	30953295	3	4	61	1	0	0	0	0	1	0	0	0	6222	507	18	3	1194	3	GAL3ST1	22	30953295	Missense_Mutation	SNP	C	TCGA-PK-A5H8-01A-11D-A29I-10	5325691	30953295	20351271	69	12366											
FOXO4	4303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	70321291	70321294	+	Frame_Shift_Del	DEL	CCTC	CCTC	-													gttgctgggggggcttccttCctccagtaagctggccacgg							TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10	CCTC	CCTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chrX:70321291_70321294delCCTC	ENST00000374259.3	+	2	1543_1546	c.1211_1214delCCTC	c.(1210-1215)tcctccfs	p.SS404fs	FOXO4_ENST00000341558.3_Frame_Shift_Del_p.SS349fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	404					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGCTTCCTTCCTCCAGTAAGCTG	0.618																																					p.404_405del		.											.	FOXO4-986	0			c.1211_1214del						.																																			SO:0001589	frameshift_variant	4303	exon2			TTCCTTCCTCCAG		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1211_1214delCCTC	X.37:g.70321291_70321294delCCTC	ENSP00000363377:p.Ser404fs	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	74	33	NM_005938	0	0	0	0	0	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Frame_Shift_Del	DEL	ENST00000374259.3	37	CCDS43969.1																																																																																			.		0.618	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		-	70321294	CCTC	-	70321291	7	5	61	1	0	1	0	1	0	0	0	0	6049	855	30	0	1217	0	FOXO4	23	70321291	Frame_Shift_Del	DEL	CCTC	TCGA-PK-A5H8-01A-11D-A29I-10		70321291	84949269	70	12367											
CYLC1	1538	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	83128178	83128178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagagaaaactaaaagAcaaaatgaggcagataaaac	9	4	0	5			TCGA-PK-A5H8-01A-11D-A29I-10	TCGA-PK-A5H8-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	59162a9b-9c64-4525-80ea-143fd766b6b2	cf83fa12-254e-4252-8a99-ac629bc5118b	g.chrX:83128178A>G	ENST00000329312.4	+	4	499	c.462A>G	c.(460-462)agA>agG	p.R154R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAACTAAAAGACAAAATGAGG	0.333																																					p.R154R		.											.	CYLC1-112	0			c.A462G						.						22	20	21					X																	83128178		2194	4275	6469	SO:0001819	synonymous_variant	1538	exon4			TAAAAGACAAAAT	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.462A>G	X.37:g.83128178A>G		Somatic	82	1		WXS	Illumina GAIIx	Phase_I	81	79	NM_021118	0	0	0	0	0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																			.		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		G	83128178	A	G	83128178	2	3	61	1	0	0	0	0	0	0	0	1	4150	272	10	4		4	CYLC1	23	83128178	Silent	SNP	A	TCGA-PK-A5H8-01A-11D-A29I-10	12806887	83128178	72142382	71	12368											
SAMD11	148398	hgsc.bcm.edu	37	chr1	877831	877831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcggagatgttcgccTggcagcaggagctcctgcgg	17	12	0	1	rs6672356		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:877831T>C	ENST00000342066.3	+	10	1110	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	343				W -> R (in Ref. 1; AFP36417/AFP36421/ AFP36422, 2; BAB70781 and 4; AAH24295/ AAH33213). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GATGTTCGCCTGGCAGCAGGA	0.776													N|||	5008	1	1	1	5008	,	,		6579	1		1	False		,,,				2504	1				p.W343R		.											.	SAMD11-90	0			c.T1027C						.						2	2	2					1																	877831		1282	2953	4235	SO:0001583	missense	148398	exon10			TTCGCCTGGCAGC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1027T>C	1.37:g.877831T>C	ENSP00000342313:p.Trp343Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_152486	0	0	0	0	0	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	2176	0.9963369963369964	492	1.0	361	0.9972375690607734	569	0.9947552447552448	754	0.9947229551451188	c	0.132	-1.111921	0.01813	.	.	ENSG00000187634	ENST00000342066	.	.	.	3.52	2.51	0.30379	.	0.186377	0.36101	N	0.002790	T	0.00012	0.0000	N	0.00114	-2.085	0.49051	P	2.510000000000012E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35076	-0.9803	8	0.02654	T	1	-1.0006	7.519	0.27616	0.1614:0.742:0.0:0.0966	rs6672356;rs17856721;rs17856973	327;343	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	R	343	.	ENSP00000342313:W343R	W	+	1	0	SAMD11	867694	0.941000	0.31946	0.994000	0.49952	0.466000	0.32739	1.209000	0.32357	0.624000	0.30286	-0.701000	0.03672	TGG	T|0.004;C|0.996		0.776	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		C	877831	T	C	877831	3	2	62	1	0	0	0	0	1	0	0	0	13861	1580	55	4	1061	4	SAMD11	1	877831	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10		877831	248372790	1	12369											
AGRN	375790	hgsc.bcm.edu;broad.mit.edu	37	chr1	979279	979279	+	Frame_Shift_Del	DEL	C	C	-													gtgtgtccccggtgtgagcaCcccccgcccggccccgtgtg					rs377606596		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:979279delC	ENST00000379370.2	+	10	1925	c.1875delC	c.(1873-1875)cacfs	p.H625fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	625	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGTGAGCACCCCCCGCCCG	0.672																																					p.H625fs		.											.	AGRN-136	0			c.1875delC						.						23	23	23					1																	979279		2192	4278	6470	SO:0001589	frameshift_variant	375790	exon10			TGAGCACCCCCCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1875delC	1.37:g.979279delC	ENSP00000368678:p.His625fs	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	73	24	NM_198576	0	0	0	0	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																			.		0.672	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	979279	C	-	979279	7	5	62	1	0	1	0	1	0	0	0	0	397	506	18	0	1913	0	AGRN	1	979279	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	101448	979279	248271342	2	12370											
SDF4	51150	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	1153176	1153176	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggctgcagcgggagtgtGggcacgttctggaaggttcc	17	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1153176G>A	ENST00000360001.6	-	7	1175				SDF4_ENST00000263741.7_Silent_p.P307P			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCGGGAGTGTGGGCACGTTCT	0.677																																					p.P307P		.											.	SDF4-154	0			c.C921T						.						35	36	36					1																	1153176		2202	4300	6502	SO:0001627	intron_variant	51150	exon7			GAGTGTGGGCACG		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.913-108C>T	1.37:g.1153176G>A		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	31	15	NM_016547	0	0	0	0	0	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	CCDS30553.1																																																																																			.		0.677	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		A	1153176	G	A	1153176	1	1	62	0	1	0	0	0	0	0	0	0	14007	1335	47	3		3	SDF4	1	1153176	Intron	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	173897	1153176	248097445	3	12371											
SCNN1D	6339	ucsc.edu;bcgsc.ca	37	chr1	1221031	1221031	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcagcacaacgctgcctGcaaacagggccaggtagggc	12	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1221031G>A	ENST00000338555.2	+	4	1210				SCNN1D_ENST00000325425.8_Missense_Mutation_p.C84Y|SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000379116.5_Missense_Mutation_p.C182Y			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	AACGCTGCCTGCAAACAGGGC	0.617																																					p.C182Y		.											.	SCNN1D-90	0			c.G545A						.						64	68	67					1																	1221031		692	1589	2281	SO:0001627	intron_variant	6339	exon6			CTGCCTGCAAACA	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.67-275G>A	1.37:g.1221031G>A		Somatic	320	2		WXS	Illumina GAIIx	Phase_I	400	168	NM_001130413	0	0	0	1	1	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	g	0.050	-1.254395	0.01457	.	.	ENSG00000162572	ENST00000379116;ENST00000325425	T;T	0.73152	-0.72;-0.58	1.91	-1.46	0.08800	.	3.392140	0.01224	N	0.008186	T	0.47637	0.1456	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.33420	-0.9869	10	0.54805	T	0.06	.	0.7068	0.00917	0.1674:0.2402:0.3486:0.2438	.	182	A6NNF7	.	Y	182;84	ENSP00000368411:C182Y;ENSP00000321594:C84Y	ENSP00000321594:C84Y	C	+	2	0	SCNN1D	1210894	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.379000	0.02554	-0.391000	0.07763	-0.507000	0.04495	TGC	.		0.617	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1221031	G	A	1221031	1	1	62	0	1	0	0	0	0	0	0	0	13974	1319	46	3		3	SCNN1D	1	1221031	Intron	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	67855	1221031	248029590	4	12372											
ACAP3	116983	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1230156	1230156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaggacgtccgagctGccatccgagctgcccccaag	11	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1230156G>A	ENST00000354700.5	-	20	2056	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Intron	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	618					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTCCGAGCTGCCATCCGAGC	0.701																																					p.G618G		.											.	ACAP3-90	0			c.C1854T						.						42	59	54					1																	1230156		692	1588	2280	SO:0001819	synonymous_variant	116983	exon20			CGAGCTGCCATCC	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.1854C>T	1.37:g.1230156G>A		Somatic	214	1		WXS	Illumina GAIIx	Phase_I	333	146	NM_030649	0	0	46	74	28	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																			.		0.701	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		A	1230156	G	A	1230156	2	1	62	1	0	0	0	0	0	0	0	1	120	1306	46	3		3	ACAP3	1	1230156	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9125	1230156	248020465	5	12373											
CPSF3L	54973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1247523	1247523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacacagtggtccttcaGgacgctgtggggaggctcgg	16	11	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1247523G>T	ENST00000435064.1	-	16	1694	c.1612C>A	c.(1612-1614)Ctg>Atg	p.L538M	CPSF3L_ENST00000540437.1_Missense_Mutation_p.L544M|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.L440M|CPSF3L_ENST00000450926.2_Missense_Mutation_p.L516M|CPSF3L_ENST00000421495.2_Missense_Mutation_p.L280M|CPSF3L_ENST00000545578.1_Missense_Mutation_p.L509M|CPSF3L_ENST00000419704.1_Missense_Mutation_p.L437M	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	538					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGTCCTTCAGGACGCTGTGG	0.701																																					p.L544M		.											.	CPSF3L-90	0			c.C1630A						.						14	12	13					1																	1247523		2183	4255	6438	SO:0001583	missense	54973	exon18			CCTTCAGGACGCT	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1612C>A	1.37:g.1247523G>T	ENSP00000413493:p.Leu538Met	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	56	21	NM_001256456	0	0	1	1	0	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.719354	0.30503	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T	0.51817	0.7;0.69;0.69;0.69	3.97	3.06	0.35304	.	0.000000	0.64402	D	0.000003	T	0.44052	0.1275	M	0.64404	1.975	0.80722	D	1	B;B;P;P;P;B	0.41420	0.317;0.376;0.633;0.749;0.51;0.212	B;B;B;B;B;B	0.40066	0.149;0.071;0.118;0.318;0.149;0.071	T	0.33854	-0.9852	10	0.31617	T	0.26	-37.0523	11.3792	0.49746	0.089:0.0:0.911:0.0	.	516;509;440;437;544;538	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	M	538;440;340;437;544;516;509	ENSP00000413493:L538M;ENSP00000445001:L544M;ENSP00000392848:L516M;ENSP00000444672:L509M	ENSP00000294579:L340M	L	-	1	2	CPSF3L	1237386	1.000000	0.71417	0.993000	0.49108	0.683000	0.39861	3.011000	0.49567	0.898000	0.36418	0.486000	0.48141	CTG	.		0.701	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		T	1247523	G	T	1247523	3	4	62	1	0	0	0	0	1	0	0	0	3834	991	35	3	198	3	CPSF3L	1	1247523	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17367	1247523	248003098	6	12374											
DVL1	1855	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	1275439	1275439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaacatgtcgccgggCtcgatgcggccgtcagcggc	15	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1275439C>A	ENST00000378888.5	-	8	1172	c.888G>T	c.(886-888)gaG>gaT	p.E296D	DVL1_ENST00000378891.5_Missense_Mutation_p.E296D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	296	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCGCCGGGCTCGATGCGGC	0.672																																					p.E296D		.											.	DVL1-658	0			c.G888T						.						36	43	40					1																	1275439		2201	4298	6499	SO:0001583	missense	1855	exon8			GCCGGGCTCGATG	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.888G>T	1.37:g.1275439C>A	ENSP00000368166:p.Glu296Asp	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	143	63	NM_004421	0	0	75	136	61	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37		.	.	.	.	.	.	.	.	.	.	C	10.40	1.339581	0.24339	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.29397	1.57;1.57	3.43	1.51	0.23008	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.62016	1.91	0.80722	D	1	D;B	0.63046	0.992;0.198	D;B	0.76071	0.987;0.316	T	0.38222	-0.9671	10	0.87932	D	0	.	8.4621	0.32934	0.0:0.6515:0.0:0.3485	.	296;296	O14640;O14640-2	DVL1_HUMAN;.	D	296	ENSP00000368169:E296D;ENSP00000368166:E296D	ENSP00000368166:E296D	E	-	3	2	DVL1	1265302	0.937000	0.31787	0.954000	0.39281	0.067000	0.16453	0.050000	0.14120	0.281000	0.22233	0.456000	0.33151	GAG	.		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		A	1275439	C	A	1275439	3	1	62	1	0	0	0	0	1	0	0	0	4849	796	28	3	1156	3	DVL1	1	1275439	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	27916	1275439	247975182	7	12375											
CALML6	163688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1848206	1848206	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaaagggttcttcaActgcgatggtttcctggcac	11	10	2	1	rs200415259		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1848206A>T	ENST00000307786.3	+	4	723	c.269A>T	c.(268-270)aAc>aTc	p.N90I	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGTTCTTCAACTGCGATGGT	0.587																																					p.N90I		.											.	CALML6-90	0			c.A269T						.						122	138	132					1																	1848206		2203	4300	6503	SO:0001583	missense	163688	exon4			TCTTCAACTGCGA	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.269A>T	1.37:g.1848206A>T	ENSP00000304643:p.Asn90Ile	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	219	92	NM_138705	0	0	0	0	0	A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.140390	0.37825	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.80033	-1.33;-1.33	3.25	2.11	0.27256	EF-hand-like domain (1);	.	.	.	.	D	0.88518	0.6458	M	0.90483	3.12	0.30199	N	0.798745	D	0.71674	0.998	D	0.65874	0.939	T	0.82161	-0.0594	9	0.87932	D	0	.	5.0679	0.14591	0.8563:0.0:0.1437:0.0	.	90	Q8TD86	CALL6_HUMAN	I	90;73	ENSP00000304643:N90I;ENSP00000367867:N73I	ENSP00000304643:N90I	N	+	2	0	CALML6	1838066	0.069000	0.21087	0.783000	0.31826	0.604000	0.37047	1.184000	0.32053	0.464000	0.27142	0.402000	0.26972	AAC	A|0.999;C|0.000		0.587	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		T	1848206	A	T	1848206	3	4	62	1	0	0	0	0	1	0	0	0	2597	43	2	5	283	5	CALML6	1	1848206	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	572767	1848206	247402415	8	12376											
GABRD	2563	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	1959038	1959038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacctccactgtggcctgcGacatggacctggccaaatac	9	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1959038G>A	ENST00000378585.4	+	5	576	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	165					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTGGCCTGCGACATGGACCT	0.622																																					p.D165N		.											.	GABRD-92	0			c.G493A						.						121	89	100					1																	1959038		2201	4299	6500	SO:0001583	missense	2563	exon5			GCCTGCGACATGG	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.493G>A	1.37:g.1959038G>A	ENSP00000367848:p.Asp165Asn	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	244	110	NM_000815	0	0	11	11	0	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089322	0.08632	.	.	ENSG00000187730	ENST00000378585	T	0.78816	-1.21	4.26	3.33	0.38152	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	N	0.04320	-0.23	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	T	0.65405	-0.6176	10	0.02654	T	1	-6.078	12.8392	0.57790	0.0:0.0:0.8354:0.1646	.	165	O14764	GBRD_HUMAN	N	165	ENSP00000367848:D165N	ENSP00000367848:D165N	D	+	1	0	GABRD	1948898	1.000000	0.71417	0.944000	0.38274	0.021000	0.10359	5.386000	0.66238	1.134000	0.42165	-0.181000	0.13052	GAC	.		0.622	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		A	1959038	G	A	1959038	3	1	62	1	0	0	0	0	1	0	0	0	6193	1058	37	1	511	1	GABRD	1	1959038	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	110832	1959038	247291583	9	12377											
PEX10	5192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	2341850	2341850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaggccacatctgagagCagctcaacctccttcctcca	7	15	2	1	rs375325159		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:2341850C>T	ENST00000447513.2	-	2	221	c.153G>A	c.(151-153)ctG>ctA	p.L51L	PEX10_ENST00000507596.1_Silent_p.L51L|PEX10_ENST00000288774.3_Silent_p.L51L|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	51					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CATCTGAGAGCAGCTCAACCT	0.592																																					p.L51L	GBM(12;9 508 1649 13619)	.											.	PEX10-90	0			c.G153A						.						113	94	101					1																	2341850		2203	4300	6503	SO:0001819	synonymous_variant	5192	exon2			TGAGAGCAGCTCA	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.153G>A	1.37:g.2341850C>T		Somatic	151	0		WXS	Illumina GAIIx	Phase_I	208	98	NM_002617	0	0	11	18	7	B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	CCDS44045.1																																																																																			.		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		T	2341850	C	T	2341850	2	4	62	1	0	0	0	0	0	0	0	1	11775	697	25	3		3	PEX10	1	2341850	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	382812	2341850	246908771	10	12378											
MMEL1	79258	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	2522472	2522472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgcatgggggtgcccCgggcacagtggaacgtgtct	19	9	1	0	rs199926063		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:2522472C>T	ENST00000378412.3	-	24	2458	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000419916.2_3'UTR|FAM213B_ENST00000378424.4_3'UTR|MMEL1_ENST00000288709.6_Missense_Mutation_p.R757Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.R609Q|FAM213B_ENST00000378425.5_3'UTR|FAM213B_ENST00000444521.2_3'UTR			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	766						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)		GGGGGTGCCCCGGGCACAGTG	0.682																																					p.R766Q		.											.	MMEL1-90	0			c.G2297A						.						33	38	36					1																	2522472		2201	4299	6500	SO:0001583	missense	79258	exon24			GTGCCCCGGGCAC	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.2297G>A	1.37:g.2522472C>T	ENSP00000367668:p.Arg766Gln	Somatic	52	1		WXS	Illumina GAIIx	Phase_I	175	73	NM_033467	0	0	5	18	13	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	4.444	0.082136	0.08533	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90504	-2.68;-2.68;-2.68	4.53	-9.06	0.00727	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	1.075740	0.07212	N	0.859327	T	0.77824	0.4188	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.63545	-0.6613	10	0.16896	T	0.51	-0.0673	9.1521	0.36969	0.0:0.2028:0.3243:0.4728	.	766	Q495T6	MMEL1_HUMAN	Q	609;757;766;609	ENSP00000288709:R757Q;ENSP00000367668:R766Q;ENSP00000422492:R609Q	ENSP00000288709:R757Q	R	-	2	0	MMEL1	2512332	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.250000	0.01187	-3.093000	0.00247	-2.183000	0.00315	CGG	.		0.682	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		T	2522472	C	T	2522472	3	4	62	1	0	0	0	0	1	0	0	0	9684	652	23	1	46	1	MMEL1	1	2522472	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	180622	2522472	246728149	11	12379											
ARHGEF16	27237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	3380095	3380095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgctgaggcggaacctGcggaaccaatcctaccgggc	14	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3380095G>A	ENST00000378378.4	+	2	852	c.447G>A	c.(445-447)ctG>ctA	p.L149L	ARHGEF16_ENST00000378373.1_5'Flank	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	149					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCGGAACCTGCGGAACCAAT	0.672																																					p.L149L		.											.	ARHGEF16-228	0			c.G447A						.						14	19	17					1																	3380095		691	1587	2278	SO:0001819	synonymous_variant	27237	exon2			GAACCTGCGGAAC	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.447G>A	1.37:g.3380095G>A		Somatic	239	0		WXS	Illumina GAIIx	Phase_I	354	161	NM_014448	0	0	1	1	0	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																			.		0.672	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3380095	G	A	3380095	2	1	62	1	0	0	0	0	0	0	0	1	899	1306	46	3		3	ARHGEF16	1	3380095	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	857623	3380095	245870526	12	12380											
CCDC27	148870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	3672052	3672052	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggccgatttgtccggagaGattgacaacagctcggagac	14	9	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3672052G>T	ENST00000294600.2	+	3	558	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	158										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCCGGAGAGATTGACAACA	0.597																																					p.E158D		.											.	CCDC27-91	0			c.G474T						.						213	225	221					1																	3672052		2203	4300	6503	SO:0001583	missense	148870	exon3			CGGAGAGATTGAC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.474G>T	1.37:g.3672052G>T	ENSP00000294600:p.Glu158Asp	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	199	82	NM_152492	0	0	0	0	0	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	6.783	0.513480	0.12944	.	.	ENSG00000162592	ENST00000294600	T	0.19394	2.15	3.0	-5.18	0.02840	.	2.442680	0.01665	N	0.025326	T	0.10165	0.0249	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	10	0.23302	T	0.38	-0.5182	11.0015	0.47609	0.102:0.6978:0.2002:0.0	.	158	Q2M243	CCD27_HUMAN	D	158	ENSP00000294600:E158D	ENSP00000294600:E158D	E	+	3	2	CCDC27	3661912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.261000	0.02855	-1.203000	0.02652	-0.225000	0.12378	GAG	.		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		T	3672052	G	T	3672052	3	4	62	1	0	0	0	0	1	0	0	0	2808	933	33	3	484	3	CCDC27	1	3672052	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	291957	3672052	245578569	13	12381											
C1orf174	339448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	3807605	3807605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgttcgcgtgtctgtggctTtgtgggatgaggaagtctgt	16	6	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3807605T>G	ENST00000361605.3	-	3	244	c.146A>C	c.(145-147)aAa>aCa	p.K49T	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	49						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)		GTCTGTGGCTTTGTGGGATGA	0.423																																					p.K49T		.											.	C1orf174-68	0			c.A146C						.						86	98	94					1																	3807605		2194	4290	6484	SO:0001583	missense	339448	exon3			GTGGCTTTGTGGG	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.146A>C	1.37:g.3807605T>G	ENSP00000355306:p.Lys49Thr	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	45	28	NM_207356	0	0	0	0	0	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	CCDS53.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383902	0.42308	.	.	ENSG00000198912	ENST00000361605	T	0.07567	3.18	5.27	2.91	0.33838	.	0.101468	0.64402	D	0.000004	T	0.20088	0.0483	L	0.57536	1.79	0.37534	D	0.918045	D	0.76494	0.999	D	0.73708	0.981	T	0.01688	-1.1295	10	0.72032	D	0.01	-14.7494	7.1762	0.25747	0.0:0.1904:0.0:0.8096	.	49	Q8IYL3	CA174_HUMAN	T	49	ENSP00000355306:K49T	ENSP00000355306:K49T	K	-	2	0	C1orf174	3797465	1.000000	0.71417	0.874000	0.34290	0.275000	0.26752	1.280000	0.33202	0.307000	0.22880	-0.464000	0.05259	AAA	.		0.423	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		G	3807605	T	G	3807605	3	3	62	1	0	0	0	0	1	0	0	0	2022	1841	64	5	593	5	C1orf174	1	3807605	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	135553	3807605	245443016	14	12382											
NOL9	79707	hgsc.bcm.edu	37	chr1	6614415	6614415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttgcagtaaccgccAccgtaggcgccgccgaccgc	13	17	0	0	rs6693400	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:6614415A>G	ENST00000377705.5	-	1	180	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	TAS1R1_ENST00000351136.3_5'Flank|TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000333172.6_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	50			W -> R (in dbSNP:rs6693400). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		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)		AGTAACCGCCACCGTAGGCGC	0.781													G|||	4907	0.979832	0.9281	0.9914	5008	,	,		8643	1		1	False		,,,				2504	1				p.W50R		.											.	NOL9-515	0			c.T148C						.	G	ARG/TRP	1625,149		742,141,4	2	3	3		148	4	0.8	1	dbSNP_116	3	3888,4		1942,4,0	no	missense	NOL9	NM_024654.4	101	2684,145,4	GG,GA,AA		0.1028,8.3991,2.7003	benign	50/703	6614415	5513,153	887	1946	2833	SO:0001583	missense	79707	exon1			ACCGCCACCGTAG	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.148T>C	1.37:g.6614415A>G	ENSP00000366934:p.Trp50Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_024654	0	0	0	0	0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	2140	0.9798534798534798	452	0.9186991869918699	358	0.988950276243094	572	1.0	758	1.0	G	0.460	-0.889729	0.02511	0.916009	0.998972	ENSG00000162408	ENST00000377705	T	0.14516	2.5	4.0	4.0	0.46444	.	0.198450	0.25411	N	0.030874	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	9	0.02654	T	1	-21.655	7.9426	0.29967	0.1142:0.0:0.8858:0.0	rs6693400;rs57411617	50	Q5SY16	NOL9_HUMAN	R	50	ENSP00000366934:W50R	ENSP00000366934:W50R	W	-	1	0	NOL9	6537002	0.793000	0.28825	0.806000	0.32338	0.033000	0.12548	0.756000	0.26419	1.042000	0.40150	-0.282000	0.10007	TGG	A|0.020;G|0.980		0.781	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		G	6614415	A	G	6614415	3	3	62	1	0	0	0	0	1	0	0	0	10567	159	6	4	2008	4	NOL9	1	6614415	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2806810	6614415	242636206	15	12383											
CAMTA1	23261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	7721841	7721841	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctcaggcttctcggtGgaacagctggtgcagcagat	14	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7721841G>C	ENST00000303635.7	+	8	927	c.720G>C	c.(718-720)gtG>gtC	p.V240V	CAMTA1_ENST00000439411.2_Silent_p.V240V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	240					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)		GCTTCTCGGTGGAACAGCTGG	0.652			T	WWTR1	epitheliod hemangioendothelioma																																p.V240V		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1-520	0			c.G720C						.						69	63	65					1																	7721841		2203	4300	6503	SO:0001819	synonymous_variant	23261	exon8			CTCGGTGGAACAG	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.720G>C	1.37:g.7721841G>C		Somatic	324	0		WXS	Illumina GAIIx	Phase_I	525	235	NM_015215	0	0	2	2	0	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																			.		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		C	7721841	G	C	7721841	2	2	62	1	0	0	0	0	0	0	0	1	2620	1335	47	3		3	CAMTA1	1	7721841	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1107426	7721841	241528780	16	12384											
VAMP3	9341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	7837354	7837354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgcagccaagttgaagagGaaatattggtggaagaattg	14	4	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7837354G>A	ENST00000054666.6	+	3	322	c.207G>A	c.(205-207)agG>agA	p.R69R	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Silent_p.R41R	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	69	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	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;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTGAAGAGGAAATATTGGT	0.443																																					p.R69R		.											.	VAMP3-90	0			c.G207A						.						84	83	83					1																	7837354		2203	4300	6503	SO:0001819	synonymous_variant	9341	exon3			GAAGAGGAAATAT	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"Vesicle-associated membrane proteins"	12644	protein-coding gene	gene with protein product	"cellubrevin"	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.207G>A	1.37:g.7837354G>A		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	161	58	NM_004781	0	0	106	231	125	Q9BRV4	Silent	SNP	ENST00000054666.6	37	CCDS88.1																																																																																			.		0.443	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		A	7837354	G	A	7837354	2	1	62	1	0	0	0	0	0	0	0	1	17163	1165	41	3		3	VAMP3	1	7837354	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	115513	7837354	241413267	17	12385											
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	7887208	7887208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagcagacgcggtcggCcggctgcaggaaagggaagc	16	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7887208C>T	ENST00000361923.2	+	17	2370	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	PER3_ENST00000377532.3_Missense_Mutation_p.A740V|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	732	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.G733fs*115(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)		ACGCGGTCGGCCGGCTGCAGG	0.552																																					p.A732V		.											.	PER3-93	1	Deletion - Frameshift(1)	pancreas(1)	c.C2195T						.						15	19	17					1																	7887208		2094	4164	6258	SO:0001583	missense	8863	exon17			GGTCGGCCGGCTG	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.2195C>T	1.37:g.7887208C>T	ENSP00000355031:p.Ala732Val	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	196	104	NM_016831	0	0	5	14	9	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491500	0.64074	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11063	2.81;2.81	4.11	4.11	0.48088	.	50.171600	0.00397	N	0.000046	T	0.25827	0.0629	M	0.66939	2.045	0.09310	N	1	P;D;D;P	0.58268	0.919;0.969;0.982;0.919	B;B;P;B	0.49887	0.253;0.421;0.625;0.253	T	0.35126	-0.9801	10	0.37606	T	0.19	.	13.6787	0.62469	0.0:1.0:0.0:0.0	.	732;740;740;732	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	740;732	ENSP00000366755:A740V;ENSP00000355031:A732V	ENSP00000355031:A732V	A	+	2	0	PER3	7809795	0.046000	0.20272	0.004000	0.12327	0.015000	0.08874	1.548000	0.36201	2.133000	0.65898	0.561000	0.74099	GCC	.		0.552	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7887208	C	T	7887208	3	4	62	1	0	0	0	0	1	0	0	0	11770	739	26	3	2261	3	PER3	1	7887208	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	49854	7887208	241363413	18	12386											
ERRFI1	54206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	8074279	8074279	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatgggtgtcagtggagggGtggaagcacaaaccccattc	14	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:8074279G>C	ENST00000377482.5	-	4	603	c.380C>G	c.(379-381)aCc>aGc	p.T127S	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	127					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTGGAGGGGTGGAAGCACA	0.488																																					p.T127S		.											.	ERRFI1-91	0			c.C380G						.						110	113	112					1																	8074279		2203	4300	6503	SO:0001583	missense	54206	exon4			GGAGGGGTGGAAG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.380C>G	1.37:g.8074279G>C	ENSP00000366702:p.Thr127Ser	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	86	48	NM_018948	0	0	16	30	14	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109845	0.37242	.	.	ENSG00000116285	ENST00000377482	T	0.72051	-0.62	5.46	4.54	0.55810	.	0.470703	0.19770	N	0.106458	T	0.57695	0.2071	N	0.22421	0.69	0.47547	D	0.999455	B	0.12630	0.006	B	0.10450	0.005	T	0.50566	-0.8813	10	0.25751	T	0.34	-1.0113	15.2845	0.73816	0.0:0.1407:0.8593:0.0	.	127	Q9UJM3	ERRFI_HUMAN	S	127	ENSP00000366702:T127S	ENSP00000366702:T127S	T	-	2	0	ERRFI1	7996866	0.876000	0.30132	0.010000	0.14722	0.324000	0.28378	3.252000	0.51461	1.259000	0.44117	0.655000	0.94253	ACC	.		0.488	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		C	8074279	G	C	8074279	3	2	62	1	0	0	0	0	1	0	0	0	5260	1261	44	3	1012	3	ERRFI1	1	8074279	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	187071	8074279	241176342	19	12387											
TMEM201	199953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	9657097	9657097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagctggccgccttcGctccccgcgaggaggtgagg	15	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:9657097G>A	ENST00000340381.6	+	3	424	c.415G>A	c.(415-417)Gct>Act	p.A139T	TMEM201_ENST00000340305.5_Missense_Mutation_p.A139T|TMEM201_ENST00000377376.4_Missense_Mutation_p.A139T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	139					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGCCTTCGCTCCCCGCGA	0.677																																					p.A139T		.											.	TMEM201-68	0			c.G415A						.						43	45	44					1																	9657097		2203	4300	6503	SO:0001583	missense	199953	exon3			GCCTTCGCTCCCC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.415G>A	1.37:g.9657097G>A	ENSP00000344503:p.Ala139Thr	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	308	112	NM_001010866	0	0	7	15	8	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.777|3.777	-0.046440|-0.046440	0.07407|0.07407	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	5.13|5.13	-3.64|-3.64	0.04515|0.04515	.|.	0.809644|.	0.11508|.	N|.	0.556947|.	T|T	0.13114|0.13114	0.0318|0.0318	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.17852|.	0.024;0.0|.	B;B|.	0.14023|.	0.01;0.001|.	T|T	0.29761|0.29761	-1.0001|-1.0001	9|5	0.09338|.	T|.	0.73|.	-1.7236|-1.7236	6.2115|6.2115	0.20631|0.20631	0.2211:0.0:0.1707:0.6082|0.2211:0.0:0.1707:0.6082	.|.	139;139|.	E9PBR6;Q5SNT2-2|.	.;.|.	T|H	139|48	.|.	ENSP00000344772:A139T|.	A|R	+|+	1|2	0|0	TMEM201|TMEM201	9579684|9579684	0.001000|0.001000	0.12720|0.12720	0.037000|0.037000	0.18230|0.18230	0.414000|0.414000	0.31173|0.31173	-0.007000|-0.007000	0.12810|0.12810	-0.692000|-0.692000	0.05128|0.05128	-0.397000|-0.397000	0.06425|0.06425	GCT|CGC	.		0.677	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		A	9657097	G	A	9657097	3	1	62	1	0	0	0	0	1	0	0	0	16173	1087	38	1	425	1	TMEM201	1	9657097	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1582818	9657097	239593524	20	12388											
UBE4B	10277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	10190785	10190785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttccaggttaaagtggttGaaaaatacttctcagggcct	9	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10190785G>A	ENST00000253251.8	+	13	2277	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	UBE4B_ENST00000377157.3_Missense_Mutation_p.E364K|UBE4B_ENST00000343090.6_Missense_Mutation_p.E609K|UBE4B_ENST00000475795.1_3'UTR					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)		TAAAGTGGTTGAAAAATACTT	0.413																																					p.E609K		.											.	UBE4B-229	0			c.G1825A						.						150	154	152					1																	10190785		2203	4300	6503	SO:0001583	missense	10277	exon14			GTGGTTGAAAAAT	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.1438G>A	1.37:g.10190785G>A	ENSP00000253251:p.Glu480Lys	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	123	47	NM_001105562	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832338	0.91036	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.45276	0.9;0.9;0.9	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.092616	0.85682	D	0.000000	T	0.46347	0.1388	L	0.33245	0.995	0.80722	D	1	P;B	0.49185	0.92;0.112	P;B	0.50860	0.652;0.033	T	0.12344	-1.0551	10	0.30078	T	0.28	-22.1535	20.1338	0.98010	0.0:0.0:1.0:0.0	.	609;480	O95155;O95155-2	UBE4B_HUMAN;.	K	480;364;609	ENSP00000253251:E480K;ENSP00000366362:E364K;ENSP00000343001:E609K	ENSP00000253251:E480K	E	+	1	0	UBE4B	10113372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.770000	0.95276	0.655000	0.94253	GAA	.		0.413	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		A	10190785	G	A	10190785	3	1	62	1	0	0	0	0	1	0	0	0	16932	1291	45	3	1879	3	UBE4B	1	10190785	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	533688	10190785	239059836	21	12389											
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	10364624	10364624	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgacaaacccagccactgTagccagtttgtgacacctcc	7	15	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10364624T>C	ENST00000377086.1	+	22	2317				RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Silent_p.C1127C|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Silent_p.C1127C			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGCCACTGTAGCCAGTTTG	0.473																																					p.C1127C		.											.	KIF1B-93	0			c.T3381C						.						46	44	45					1																	10364624		2203	4300	6503	SO:0001627	intron_variant	23095	exon21			CCACTGTAGCCAG	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7320T>C	1.37:g.10364624T>C		Somatic	276	1		WXS	Illumina GAIIx	Phase_I	361	169	NM_183416	0	0	3	5	2	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																				.		0.473	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10364624	T	C	10364624	1	2	62	0	1	0	0	0	0	0	0	0	8311	1644	57	4		4	KIF1B	1	10364624	Intron	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	173839	10364624	238885997	22	12390											
CASZ1	54897	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	10699787	10699787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaagtggcagctgagtgAggccttgaagcgcttgaagt	17	7	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10699787A>T	ENST00000377022.3	-	21	4809	c.4492T>A	c.(4492-4494)Tca>Aca	p.S1498T	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1498					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCTGAGTGAGGCCTTGAAG	0.647																																					p.S1498T		.											.	CASZ1-113	0			c.T4492A						.						35	50	45					1																	10699787		2171	4274	6445	SO:0001583	missense	54897	exon21			TGAGTGAGGCCTT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4492T>A	1.37:g.10699787A>T	ENSP00000366221:p.Ser1498Thr	Somatic	105	2		WXS	Illumina GAIIx	Phase_I	155	58	NM_001079843	0	0	1	2	1	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	A	4.220	0.039616	0.08148	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.86	3.7	0.42460	.	0.176984	0.23861	U	0.043848	T	0.27559	0.0677	N	0.05078	-0.115	0.80722	D	1	B	0.13145	0.007	B	0.20955	0.032	T	0.07927	-1.0747	9	0.06891	T	0.86	-5.8807	11.5323	0.50618	0.8498:0.1502:0.0:0.0	.	1498	Q86V15	CASZ1_HUMAN	T	1498	.	ENSP00000366221:S1498T	S	-	1	0	CASZ1	10622374	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	4.096000	0.57734	0.669000	0.31146	0.377000	0.23210	TCA	.		0.647	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		T	10699787	A	T	10699787	3	4	62	1	0	0	0	0	1	0	0	0	2692	304	11	5	791	5	CASZ1	1	10699787	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	335163	10699787	238550834	23	12391											
CASZ1	54897	hgsc.bcm.edu	37	chr1	10719929	10719929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaggctgggggtgggCggaaccttggcggggcctgg	23	9	0	0	rs530829402	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10719929C>T	ENST00000377022.3	-	6	1487	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	CASZ1_ENST00000344008.5_Silent_p.P390P|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	390	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGGGGTGGGCGGAACCTTGG	0.721													c|||	2	0.000399361	8e-04	0.0014	5008	,	,		11990	0		0	False		,,,				2504	0				p.P390P		.											.	CASZ1-113	0			c.G1170A						.						22	27	25					1																	10719929		2202	4295	6497	SO:0001819	synonymous_variant	54897	exon6			GGTGGGCGGAACC	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1170G>A	1.37:g.10719929C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	29	15	NM_001079843	0	0	1	1	0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																			.		0.721	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		T	10719929	C	T	10719929	2	4	62	1	0	0	0	0	0	0	0	1	2692	755	27	1		1	CASZ1	1	10719929	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	20142	10719929	238530692	24	12392											
SRM	6723	broad.mit.edu;bcgsc.ca	37	chr1	11115019	11115019	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccccgcaggccacccacCttgcgggcaaactcgggcag	12	18	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:11115019C>A	ENST00000376957.2	-	7	968	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	296					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	GGCCACCCACCTTGCGGGCAA	0.662																																					p.K296N		.											.	SRM-90	0			c.G888T						.						25	29	28					1																	11115019		2203	4299	6502	SO:0001630	splice_region_variant	6723	exon7			ACCCACCTTGCGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.888+1G>T	1.37:g.11115019C>A		Somatic	49	1		WXS	Illumina GAIIx	Phase_I	172	134	NM_003132	0	0	0	0	0	B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704617	0.30232	.	.	ENSG00000116649	ENST00000376957	T	0.77750	-1.12	5.01	3.14	0.36123	.	0.047340	0.85682	D	0.000000	T	0.65811	0.2727	L	0.43701	1.375	0.58432	D	0.999999	B	0.30511	0.282	B	0.24006	0.05	T	0.60078	-0.7333	10	0.45353	T	0.12	.	7.9044	0.29752	0.0:0.7515:0.0:0.2485	.	296	P19623	SPEE_HUMAN	N	296	ENSP00000366156:K296N	ENSP00000366156:K296N	K	-	3	2	SRM	11037606	1.000000	0.71417	0.979000	0.43373	0.331000	0.28603	4.455000	0.60075	0.524000	0.28502	0.561000	0.74099	AAG	.		0.662	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	Missense_Mutation	A	11115019	C	A	11115019	5	1	62	1	0	0	0	0	0	0	1	0	15198	695	24	3	28	3	SRM	1	11115019	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	395090	11115019	238135602	25	12393											
KIAA2013	90231	broad.mit.edu;mdanderson.org	37	chr1	11982929	11982929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagagcagtggcgtgaTgggctgtgtcaccatgaccg	16	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:11982929T>C	ENST00000376572.3	-	2	1836	c.1651A>G	c.(1651-1653)Atc>Gtc	p.I551V	KIAA2013_ENST00000376576.3_Missense_Mutation_p.I551V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	551						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCGTGATGGGCTGTGTC	0.627																																					p.I551V		.											.	KIAA2013-91	0			c.A1651G						.						25	24	24					1																	11982929		2201	4275	6476	SO:0001583	missense	90231	exon2			GCGTGATGGGCTG	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1651A>G	1.37:g.11982929T>C	ENSP00000365756:p.Ile551Val	Somatic	629	1		WXS	Illumina GAIIx	Phase_I	873	242	NM_138346	0	0	90	183	93	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278390	0.40294	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	6.06	4.87	0.63330	.	0.127056	0.52532	D	0.000074	T	0.41465	0.1160	L	0.29908	0.895	0.44899	D	0.997912	B;B	0.32526	0.323;0.374	B;B	0.39068	0.19;0.289	T	0.30650	-0.9971	9	0.30854	T	0.27	-24.895	7.7544	0.28915	0.1373:0.0:0.1433:0.7193	.	551;551	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	V	551	.	ENSP00000365756:I551V	I	-	1	0	KIAA2013	11905516	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.807000	0.55591	2.322000	0.78497	0.528000	0.53228	ATC	.		0.627	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		C	11982929	T	C	11982929	3	2	62	1	0	0	0	0	1	0	0	0	8294	1464	51	4	261	4	KIAA2013	1	11982929	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	867910	11982929	237267692	26	12394											
DHRS3	9249	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	12632790	12632792	+	In_Frame_Del	DEL	GGA	GGA	-													gagggcatgcattgtccatgGgaggaggaggagggcctggt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GGA	GGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:12632790_12632792delGGA	ENST00000376223.2	-	5	1171_1173	c.788_790delTCC	c.(787-792)ctccca>cca	p.L263del	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	263					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATTGTCCATGGGAGGAGGAGGAG	0.552																																					p.263_264del		.											.	DHRS3-91	0			c.788_790del						.																																			SO:0001651	inframe_deletion	9249	exon5			TCCATGGGAGGAG	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.788_790delTCC	1.37:g.12632799_12632801delGGA	ENSP00000365397:p.Leu263del	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	102	34	NM_004753	0	0	0	0	0	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	In_Frame_Del	DEL	ENST00000376223.2	37	CCDS146.1																																																																																			.		0.552	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		-	12632792	GGA	-	12632790	7	5	62	1	0	1	0	1	0	0	0	0	4505	1232	43	0	126	0	DHRS3	1	12632790	In_Frame_Del	DEL	GGA	TCGA-PK-A5HB-01A-11D-A29I-10	649861	12632790	236617831	27	12395											
PRAMEF1	65121	bcgsc.ca	37	chr1	12854135	12854135	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagatggcctggagcctGggccctgtcctgcttcccag	14	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:12854135G>A	ENST00000332296.7	+	3	462	c.359G>A	c.(358-360)tGg>tAg	p.W120*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	120					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGAGCCTGGGCCCTGTCC	0.542																																					p.W120X		.											.	PRAMEF1-22	0			c.G359A						.						172	190	184					1																	12854135		2203	4300	6503	SO:0001587	stop_gained	65121	exon3			GAGCCTGGGCCCT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.359G>A	1.37:g.12854135G>A	ENSP00000332134:p.Trp120*	Somatic	291	5		WXS	Illumina GAIIx	Phase_I	401	143	NM_023013	0	0	0	0	0	Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921964	0.33908	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.34	-2.69	0.06022	.	6.284200	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.8806	0.18854	0.0:0.0:0.5642:0.4358	.	.	.	.	X	120	.	ENSP00000332134:W120X	W	+	2	0	PRAMEF1	12776722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.603000	0.02077	-0.602000	0.05775	-0.723000	0.03601	TGG	.		0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12854135	G	A	12854135	4	1	62	1	0	0	0	0	0	1	0	0	12467	1357	47	3	365	3	PRAMEF1	1	12854135	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	221345	12854135	236396486	28	12396											
LOC440563	0	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	13183603	13183603	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacctgcgtttcctcggttCacttttggctctgcagccag	9	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:13183603C>T								RP13-221M14.3 (19135 upstream) : PRAMEF26 (32752 downstream)																							TTCCTCGGTTCACTTTTGGCT	0.493																																					p.V90V		.											.	.	0			c.G270A						.						71	56	60					1																	13183603		692	1591	2283	SO:0001628	intergenic_variant	0	exon2			TCGGTTCACTTTT																													1.37:g.13183603C>T		Somatic	225	0		WXS	Illumina GAIIx	Phase_I	299	112	NM_001136561	0	0	0	0	0		Silent	SNP		37																																																																																				.	0	0.493									T	13183603	C	T	13183603	1	4	62	0	1	0	0	0	0	0	0	0	8913	813	29	3		3	LOC440563	1	13183603	IGR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	329468	13183603	236067018	29	12397											
PRAMEF18	391003	bcgsc.ca	37	chr1	13475084	13475084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagggtctgaagagtggCagcaactttctctagcagag	14	7	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:13475084C>T	ENST00000376126.2	-	3	1044	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	349					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)					lung(2)|ovary(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)		TGAAGAGTGGCAGCAACTTTC	0.547																																					p.A349T		.											.	.	0			c.G1045A						.						35	42	39					1																	13475084		2200	4278	6478	SO:0001583	missense	645414	exon3			GAGTGGCAGCAAC			1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1045G>A	1.37:g.13475084C>T	ENSP00000365294:p.Ala349Thr	Somatic	1095	3		WXS	Illumina GAIIx	Phase_I	1504	616	NM_001099790	0	0	0	0	0		Missense_Mutation	SNP	ENST00000376126.2	37	CCDS41258.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120704	0.56613	.	.	ENSG00000204491	ENST00000376126	T	0.09350	2.99	1.52	0.562	0.17290	.	0.772554	0.12404	N	0.471918	T	0.23965	0.0580	M	0.79614	2.46	0.09310	N	1	D	0.62365	0.991	P	0.62298	0.9	T	0.08351	-1.0726	10	0.49607	T	0.09	.	3.8129	0.08804	0.0:0.752:0.0:0.248	.	349	Q5VWM3	PRA18_HUMAN	T	349	ENSP00000365294:A349T	ENSP00000365294:A349T	A	-	1	0	PRAMEF18	13347671	0.000000	0.05858	0.010000	0.14722	0.738000	0.42128	-0.370000	0.07523	0.187000	0.20147	0.195000	0.17529	GCC	.		0.547	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		T	13475084	C	T	13475084	3	4	62	1	0	0	0	0	1	0	0	0	12475	710	25	3	398	3	PRAMEF18	1	13475084	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	291481	13475084	235775537	30	12398											
AGMAT	79814	hgsc.bcm.edu	37	chr1	15911349	15911349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttccggggcgcGtcggaagcctggcggctctg	21	11	1	0	rs3737705	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2	3	3		114	-4.1	0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	10	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15911349	G	A	15911349	2	1	62	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15911349	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2436265	15911349	233339272	31	12399											
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	16174571	16174571	+	Silent	SNP	G	G	T													acgccgcccagcatggtccgGgaaaccaggcatctctgggt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16174571G>T	ENST00000375759.3	+	1	213	c.9G>T	c.(7-9)cgG>cgT	p.R3R	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3					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)		GCATGGTCCGGGAAACCAGGC	0.697																																					p.R3R		.											.	SPEN-298	0			c.G9T						.						31	28	29					1																	16174571		2184	4275	6459	SO:0001819	synonymous_variant	23013	exon1			GGTCCGGGAAACC		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.9G>T	1.37:g.16174571G>T		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	221	99	NM_015001	0	0	0	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			.		0.697	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16174571	G	T	16174571	2	4	62	1	0	0	0	0	0	0	0	1	15085	1219	43	3		3	SPEN	1	16174571	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	263222	16174571	233076050	32	12400	121	2									
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	16174581	16174581	+	Missense_Mutation	SNP	C	C	T													gcatggtccgggaaaccaggCatctctgggtgggcaactta							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16174581C>T	ENST00000375759.3	+	1	223	c.19C>T	c.(19-21)Cat>Tat	p.H7Y	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	7	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		GGAAACCAGGCATCTCTGGGT	0.682																																					p.H7Y		.											.	SPEN-298	0			c.C19T						.						36	32	33					1																	16174581		2191	4286	6477	SO:0001583	missense	23013	exon1			ACCAGGCATCTCT		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.19C>T	1.37:g.16174581C>T	ENSP00000364912:p.His7Tyr	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	247	109	NM_015001	0	0	2	2	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307305	0.40795	.	.	ENSG00000065526	ENST00000375759	T	0.05717	3.4	2.93	2.93	0.34026	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.07413	0.0187	L	0.31476	0.935	0.58432	D	0.999998	D	0.55385	0.971	P	0.45913	0.497	T	0.32798	-0.9893	9	0.66056	D	0.02	0.2138	12.6627	0.56824	0.0:1.0:0.0:0.0	.	7	Q96T58	MINT_HUMAN	Y	7	ENSP00000364912:H7Y	ENSP00000364912:H7Y	H	+	1	0	SPEN	16047168	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.003000	0.70701	1.362000	0.46000	0.305000	0.20034	CAT	.		0.682	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16174581	C	T	16174581	3	4	62	1	0	0	0	0	1	0	0	0	15085	710	25	3	21	3	SPEN	1	16174581	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	10	16174581	233076040	33	12401	121	2									
EPHA2	1969	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	16461615	16461615	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggaccaggtaggtggtgtCtggggccaggtcgtccaggg	19	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16461615C>T	ENST00000358432.5	-	7	1652	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	500	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)	TAGGTGGTGTCTGGGGCCAGG	0.672																																					p.D500N		.											.	EPHA2-1419	0			c.G1498A						.						130	130	130					1																	16461615		2203	4300	6503	SO:0001583	missense	1969	exon7			TGGTGTCTGGGGC	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.1498G>A	1.37:g.16461615C>T	ENSP00000351209:p.Asp500Asn	Somatic	70	2		WXS	Illumina GAIIx	Phase_I	113	52	NM_004431	0	0	1	3	2	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728945	0.69074	.	.	ENSG00000142627	ENST00000358432	T	0.56941	0.43	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.242758	0.29185	N	0.012884	T	0.42988	0.1227	N	0.21583	0.68	0.39410	D	0.966749	B	0.20261	0.043	B	0.24155	0.051	T	0.35549	-0.9784	10	0.48119	T	0.1	.	16.672	0.85269	0.0:1.0:0.0:0.0	.	500	P29317	EPHA2_HUMAN	N	500	ENSP00000351209:D500N	ENSP00000351209:D500N	D	-	1	0	EPHA2	16334202	0.003000	0.15002	0.954000	0.39281	0.992000	0.81027	2.061000	0.41403	2.539000	0.85634	0.655000	0.94253	GAC	.		0.672	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		T	16461615	C	T	16461615	3	4	62	1	0	0	0	0	1	0	0	0	5183	913	32	3	1476	3	EPHA2	1	16461615	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	287034	16461615	232789006	34	12402											
NBPF1	55672	broad.mit.edu;bcgsc.ca	37	chr1	16891333	16891333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttttgatcttcttcccCttcttttcttccccttctcc	4	15	5	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16891333C>T	ENST00000430580.2	-	28	4032	c.3145G>A	c.(3145-3147)Ggg>Agg	p.G1049R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1029	NBPF 7. {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)		tcttcttccccttcttttctt	0.428																																					.		.											.	.	0			.						.						58	26	41					1																	16891333		619	665	1284	SO:0001583	missense	55672	.			CTTCCCCTTCTTT	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.3145G>A	1.37:g.16891333C>T	ENSP00000474456:p.Gly1049Arg	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	46	17	.	0	0	218	224	6	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																				C|0.500;T|0.500		0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		T	16891333	C	T	16891333	3	4	62	1	0	0	0	0	1	0	0	0	10230	681	24	3	282	3	NBPF1	1	16891333	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	429718	16891333	232359288	35	12403											
PADI3	51702	broad.mit.edu	37	chr1	17575686	17575686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatcccaccagcgcggtGtgtgtggctggcgtggagac	17	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:17575686G>A	ENST00000375460.3	+	1	94	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	18					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCAGCGCGGTGTGTGTGGCTG	0.607																																					p.V18V		.											.	PADI3-132	0			c.G54A						.						159	136	144					1																	17575686		2203	4300	6503	SO:0001819	synonymous_variant	51702	exon1			CGCGGTGTGTGTG	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.54G>A	1.37:g.17575686G>A		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	284	7	NM_016233	0	0	1	1	0	Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	CCDS179.1																																																																																			.		0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			A	17575686	G	A	17575686	2	1	62	1	0	0	0	0	0	0	0	1	11418	1364	48	3		3	PADI3	1	17575686	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	684353	17575686	231674935	36	12404											
TAS1R2	80834	broad.mit.edu	37	chr1	19181157	19181157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacacgaccacgacgcgCgctgtgctctgctgcagctt	12	14	1	1	rs202163137		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:19181157C>T	ENST00000375371.3	-	3	828	c.807G>A	c.(805-807)gcG>gcA	p.A269A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	269					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)	CCACGACGCGCGCTGTGCTCT	0.622																																					p.A269A		.											.	TAS1R2-93	0			c.G807A						.						70	60	64					1																	19181157		2203	4300	6503	SO:0001819	synonymous_variant	80834	exon3			GACGCGCGCTGTG		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.807G>A	1.37:g.19181157C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	219	6	NM_152232	0	0	0	0	0	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																			C|0.999;A|0.000		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19181157	C	T	19181157	2	4	62	1	0	0	0	0	0	0	0	1	15610	755	27	1		1	TAS1R2	1	19181157	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1605471	19181157	230069464	37	12405											
HTR6	3362	broad.mit.edu	37	chr1	20005583	20005583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagcgccaggccagcctgGcctcgccatcactgcgcacc	13	18	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:20005583G>T	ENST00000289753.1	+	3	1512	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	349					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGCCAGCCTGGCCTCGCCATC	0.687																																					p.A349S	Esophageal Squamous(168;1879 2619 6848 21062)	.											.	HTR6-91	0			c.G1045T						.						30	34	33					1																	20005583		2201	4298	6499	SO:0001583	missense	3362	exon3			AGCCTGGCCTCGC	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1045G>T	1.37:g.20005583G>T	ENSP00000289753:p.Ala349Ser	Somatic	33	3		WXS	Illumina GAIIx	Phase_I	116	20	NM_000871	0	0	8	8	0	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135033	0.21123	.	.	ENSG00000158748	ENST00000289753	T	0.32988	1.43	5.39	4.25	0.50352	.	0.303975	0.23513	N	0.047376	T	0.16514	0.0397	N	0.14661	0.345	0.23113	N	0.998271	P	0.45044	0.849	B	0.42738	0.396	T	0.07849	-1.0751	9	.	.	.	.	4.8529	0.13545	0.2699:0.0:0.7301:0.0	.	349	P50406	5HT6R_HUMAN	S	349	ENSP00000289753:A349S	.	A	+	1	0	HTR6	19878170	0.724000	0.28038	0.959000	0.39883	0.135000	0.20990	1.057000	0.30492	2.698000	0.92095	0.561000	0.74099	GCC	.		0.687	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	20005583	G	T	20005583	3	4	62	1	0	0	0	0	1	0	0	0	7478	1203	42	3	1055	3	HTR6	1	20005583	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	824426	20005583	229245038	38	12406											
RAP1GAP	5909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21940490	21940490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctcacctgagcagcagCcgcaggtgctcttggtcccc	10	18	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:21940490C>T	ENST00000374765.4	-	8	584	c.384G>A	c.(382-384)cgG>cgA	p.R128R	RAP1GAP_ENST00000374763.2_Silent_p.R128R|RAP1GAP_ENST00000542643.2_Silent_p.R128R|RAP1GAP_ENST00000374761.2_Silent_p.R159R|RAP1GAP_ENST00000290101.4_Silent_p.R192R|RAP1GAP_ENST00000374757.3_5'UTR	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	128					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGAGCAGCAGCCGCAGGTGCT	0.557																																					p.R192R		.											.	RAP1GAP-245	0			c.G576A						.						51	46	47					1																	21940490		2203	4299	6502	SO:0001819	synonymous_variant	5909	exon8			CAGCAGCCGCAGG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.384G>A	1.37:g.21940490C>T		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	121	61	NM_001145658	0	0	0	0	0	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			.		0.557	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21940490	C	T	21940490	2	4	62	1	0	0	0	0	0	0	0	1	13082	726	26	3		3	RAP1GAP	1	21940490	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1934907	21940490	227310131	39	12407											
EPHA8	2046	ucsc.edu;bcgsc.ca	37	chr1	22915595	22915595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggccaacctgctggCccacatgaactactccttct	9	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:22915595C>T	ENST00000166244.3	+	5	1283	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	EPHA8_ENST00000538803.1_Missense_Mutation_p.A404V|EPHA8_ENST00000374644.4_Missense_Mutation_p.A404V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	404	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)		AACCTGCTGGCCCACATGAAC	0.667																																					p.A404V		.											.	EPHA8-1380	0			c.C1211T						.						28	25	26					1																	22915595		2203	4298	6501	SO:0001583	missense	2046	exon5			TGCTGGCCCACAT	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.1211C>T	1.37:g.22915595C>T	ENSP00000166244:p.Ala404Val	Somatic	194	3		WXS	Illumina GAIIx	Phase_I	424	186	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138914	0.94560	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.58940	0.3;0.3;0.3	4.28	4.28	0.50868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.77103	2.36	0.80722	D	1	P;P	0.52170	0.645;0.951	P;P	0.55055	0.614;0.767	T	0.76849	-0.2807	10	0.72032	D	0.01	.	15.7814	0.78264	0.0:1.0:0.0:0.0	.	404;404	P29322;P29322-2	EPHA8_HUMAN;.	V	404	ENSP00000166244:A404V;ENSP00000363775:A404V;ENSP00000440274:A404V	ENSP00000166244:A404V	A	+	2	0	EPHA8	22788182	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.800000	0.69108	2.381000	0.81170	0.436000	0.28706	GCC	.		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22915595	C	T	22915595	3	4	62	1	0	0	0	0	1	0	0	0	5189	739	26	3	1229	3	EPHA8	1	22915595	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	975105	22915595	226335026	40	12408											
EPHA8	2046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	22927299	22927299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactggaacatgaccaaccGggatgtgagtgccaagccct	11	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:22927299G>A	ENST00000166244.3	+	14	2606	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ATGACCAACCGGGATGTGAGT	0.672																																					p.R845Q		.											.	EPHA8-1380	0			c.G2534A						.						73	83	80					1																	22927299		2203	4300	6503	SO:0001583	missense	2046	exon14			CCAACCGGGATGT	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.2534G>A	1.37:g.22927299G>A	ENSP00000166244:p.Arg845Gln	Somatic	122	2		WXS	Illumina GAIIx	Phase_I	221	97	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	3.594	-0.082952	0.07141	.	.	ENSG00000070886	ENST00000166244	D	0.82167	-1.58	4.92	3.01	0.34805	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137680	0.47455	N	0.000231	T	0.58623	0.2135	N	0.11154	0.105	0.80722	D	1	D	0.54601	0.967	B	0.38194	0.267	T	0.64854	-0.6309	10	0.02654	T	1	.	9.7053	0.40211	0.1748:0.0:0.8252:0.0	.	845	P29322	EPHA8_HUMAN	Q	845	ENSP00000166244:R845Q	ENSP00000166244:R845Q	R	+	2	0	EPHA8	22799886	0.654000	0.27367	0.825000	0.32803	0.385000	0.30292	2.262000	0.43285	0.642000	0.30620	0.556000	0.70494	CGG	.		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22927299	G	A	22927299	3	1	62	1	0	0	0	0	1	0	0	0	5189	1116	39	1	2761	1	EPHA8	1	22927299	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	11704	22927299	226323322	41	12409											
HNRNPR	10236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	23636987	23636987	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcctgataaaattccTggttgtcattattgtaacca	6	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:23636987T>A	ENST00000374612.1	-	11	1985	c.1862A>T	c.(1861-1863)cAg>cTg	p.Q621L	HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q624L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q482L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q583L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q621L|HNRNPR_ENST00000478691.1_Missense_Mutation_p.Q523L|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q461L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	621	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATAAAATTCCTGGTTGTCATT	0.438																																					p.Q624L		.											.	HNRNPR-24	0			c.A1871T						.						183	181	182					1																	23636987		2203	4300	6503	SO:0001583	missense	10236	exon11			AATTCCTGGTTGT	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1862A>T	1.37:g.23636987T>A	ENSP00000363741:p.Gln621Leu	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	71	25	NM_001102398	0	0	53	109	56	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	CCDS232.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368644	0.24771	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.21543	2.0;2.01;2.01;2.3;2.83	5.21	5.21	0.72293	.	0.107337	0.64402	D	0.000004	T	0.18383	0.0441	L	0.31926	0.97	0.45490	D	0.998459	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.007;0.012	B;B;B;B;B;B	0.12837	0.004;0.004;0.004;0.004;0.004;0.008	T	0.02431	-1.1160	10	0.49607	T	0.09	-1.9697	14.0543	0.64756	0.0:0.0:0.0:1.0	.	461;583;482;601;621;624	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	L	624;621;621;583;461	ENSP00000363745:Q624L;ENSP00000363741:Q621L;ENSP00000304405:Q621L;ENSP00000392799:Q583L;ENSP00000415042:Q461L	ENSP00000304405:Q621L	Q	-	2	0	HNRNPR	23509574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.961000	0.56759	2.189000	0.69895	0.528000	0.53228	CAG	.		0.438	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		A	23636987	T	A	23636987	3	1	62	1	0	0	0	0	1	0	0	0	7299	1580	55	5	43	5	HNRNPR	1	23636987	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	709688	23636987	225613634	42	12410											
ASAP3	55616	bcgsc.ca;mdanderson.org	37	chr1	23763445	23763445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtccaaggtgagtgactGcatgcgcgaaaagcgcacgc	14	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:23763445G>A	ENST00000336689.3	-	15	1479	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Nonsense_Mutation_p.Q470*	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	479	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGAGTGACTGCATGCGCGAA	0.657																																					p.Q479X		.											.	ASAP3-155	0			c.C1435T						.						20	21	21					1																	23763445		2201	4297	6498	SO:0001587	stop_gained	55616	exon15			GTGACTGCATGCG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1435C>T	1.37:g.23763445G>A	ENSP00000338769:p.Gln479*	Somatic	97	2		WXS	Illumina GAIIx	Phase_I	165	75	NM_017707	0	0	1	1	0	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Nonsense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	38	7.022560	0.98010	.	.	ENSG00000088280	ENST00000538685;ENST00000336689;ENST00000437606	.	.	.	4.53	4.53	0.55603	.	0.145168	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3635	0.83296	0.0:0.0:1.0:0.0	.	.	.	.	X	2;479;470	.	ENSP00000338769:Q479X	Q	-	1	0	ASAP3	23636032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.563000	0.98148	2.512000	0.84698	0.471000	0.43371	CAG	.		0.657	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		A	23763445	G	A	23763445	4	1	62	1	0	0	0	0	0	1	0	0	1013	1328	46	3	1320	3	ASAP3	1	23763445	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	126458	23763445	225487176	43	12411											
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24417405	24417405	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgatagctctgaccttcGacgaggccttggattgggca	12	11	1	1	rs201898557	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24417405G>A	ENST00000374434.3	-	12	1476	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.V439V|MYOM3_ENST00000329601.7_Silent_p.V438V	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	438	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.V438V(1)		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)		TCTGACCTTCGACGAGGCCTT	0.632													G|||	2	0.000399361	0.0015	0	5008	,	,		16871	0		0	False		,,,				2504	0				p.V438V		.											.	MYOM3-93	1	Substitution - coding silent(1)	endometrium(1)	c.C1314T						.	G		13,4147		0,13,2067	102	112	109		1314	-10.6	0	1		109	0,8404		0,0,4202	no	coding-synonymous	MYOM3	NM_152372.3		0,13,6269	AA,AG,GG		0.0,0.3125,0.1035		438/1438	24417405	13,12551	2080	4202	6282	SO:0001819	synonymous_variant	127294	exon12			ACCTTCGACGAGG	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.1314C>T	1.37:g.24417405G>A		Somatic	145	0		WXS	Illumina GAIIx	Phase_I	195	78	NM_152372	0	0	0	0	0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																			G|0.999;A|0.001		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24417405	G	A	24417405	2	1	62	1	0	0	0	0	0	0	0	1	10131	1045	37	1		1	MYOM3	1	24417405	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	653960	24417405	224833216	44	12412											
GRHL3	57822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24664169	24664169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaagccatccacatcAagtcaggcgagtcacccatg	7	17	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24664169A>G	ENST00000350501.5	+	6	857	c.730A>G	c.(730-732)Aag>Gag	p.K244E	GRHL3_ENST00000342072.4_Missense_Mutation_p.K151E|GRHL3_ENST00000236255.4_Missense_Mutation_p.K249E|GRHL3_ENST00000356046.2_Missense_Mutation_p.K198E|GRHL3_ENST00000361548.4_Missense_Mutation_p.K244E	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	244					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CATCCACATCAAGTCAGGCGA	0.602																																					p.K249E		.											.	GRHL3-91	0			c.A745G						.						99	84	89					1																	24664169		2203	4300	6503	SO:0001583	missense	57822	exon6			CACATCAAGTCAG	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.730A>G	1.37:g.24664169A>G	ENSP00000288955:p.Lys244Glu	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	209	87	NM_021180	0	0	0	0	0	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821688	0.90873	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	M	0.87180	2.865	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.60581	-0.7235	10	0.72032	D	0.01	-33.7547	15.6284	0.76882	1.0:0.0:0.0:0.0	.	198;249;244	A2A297;Q8TE85-2;G3XAF0	.;.;.	E	244;151;244;198;249	ENSP00000354943:K244E;ENSP00000340543:K151E;ENSP00000288955:K244E;ENSP00000348333:K198E;ENSP00000236255:K249E	ENSP00000236255:K249E	K	+	1	0	GRHL3	24536756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.786000	0.69006	2.281000	0.76405	0.533000	0.62120	AAG	.		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		G	24664169	A	G	24664169	3	3	62	1	0	0	0	0	1	0	0	0	6792	131	5	4	788	4	GRHL3	1	24664169	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	246764	24664169	224586452	45	12413											
C1orf201	90529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24706214	24706214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaactggaacatgctggAacacgaattactaaagtctc	9	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24706214A>G	ENST00000374409.1	-	5	645	c.391T>C	c.(391-393)Tcc>Ccc	p.S131P	STPG1_ENST00000337248.4_Missense_Mutation_p.S131P|STPG1_ENST00000003583.8_Missense_Mutation_p.S84P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.S84P	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	131					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACATGCTGGAACACGAATTA	0.413																																					p.S131P		.											.	.	0			c.T391C						.						117	119	118					1																	24706214		2203	4300	6503	SO:0001583	missense	90529	exon5			TGCTGGAACACGA	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.391T>C	1.37:g.24706214A>G	ENSP00000363530:p.Ser131Pro	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	96	33	NM_001199012	0	0	5	11	6	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861990	0.71949	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.78717	0.4327	M	0.78801	2.425	0.50632	D	0.999889	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.81398	-0.0951	9	0.87932	D	0	-32.2566	12.7163	0.57117	1.0:0.0:0.0:0.0	.	131;84	Q5TH74;Q5TH74-3	CA201_HUMAN;.	P	131;84;84;131;131;34;35	.	ENSP00000003583:S84P	S	-	1	0	C1orf201	24578801	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.642000	0.61383	2.254000	0.74563	0.460000	0.39030	TCC	.		0.413	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		G	24706214	A	G	24706214	3	3	62	1	0	0	0	0	1	0	0	0	2034	246	9	4	633	4	C1orf201	1	24706214	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	42045	24706214	224544407	46	12414											
SRRM1	10250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24975468	24975468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacaagaaaacatcgcggGaatcccttctgctttcctag	8	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24975468G>A	ENST00000323848.9	+	4	668	c.353G>A	c.(352-354)gGa>gAa	p.G118E	SRRM1_ENST00000447431.2_Missense_Mutation_p.G118E|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.G118E|SRRM1_ENST00000537199.1_Missense_Mutation_p.G17E	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	118	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AACATCGCGGGAATCCCTTCT	0.398																																					p.G118E	Ovarian(68;897 1494 3282 17478)	.											.	SRRM1-93	0			c.G353A						.						122	132	129					1																	24975468		2203	4300	6503	SO:0001583	missense	10250	exon4			TCGCGGGAATCCC	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.353G>A	1.37:g.24975468G>A	ENSP00000326261:p.Gly118Glu	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	42	13	NM_005839	0	0	15	36	21	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110389	0.77210	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.68	5.68	0.88126	Splicing factor PWI (3);	0.000000	0.56097	D	0.000029	T	0.80696	0.4672	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84381	0.0549	10	0.87932	D	0	-4.0668	20.1553	0.98111	0.0:0.0:1.0:0.0	.	118;118	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	E	118;118;118;17	ENSP00000326261:G118E;ENSP00000391430:G118E;ENSP00000363510:G118E;ENSP00000441776:G17E	ENSP00000326261:G118E	G	+	2	0	SRRM1	24848055	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.531000	0.98054	2.838000	0.97847	0.591000	0.81541	GGA	.		0.398	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		A	24975468	G	A	24975468	3	1	62	1	0	0	0	0	1	0	0	0	15215	1174	41	3	367	3	SRRM1	1	24975468	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	269254	24975468	224275153	47	12415											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856442	26856442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcaaggagccctggCcgctcatggagctagtgcct	12	15	2	0	rs560501416	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:26856442C>G	ENST00000374168.2	+	1	185	c.31C>G	c.(31-33)Ccg>Gcg	p.P11A	RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P11A|RPS6KA1_ENST00000374162.2_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	11					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAGCCCTGGCCGCTCATGGA	0.791													C|||	2	0.000399361	0	0	5008	,	,		5716	0		0.001	False		,,,				2504	0.001				p.P11A		.											.	RPS6KA1-510	0			c.C31G						.																																			SO:0001583	missense	6195	exon1			CCCTGGCCGCTCA	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.31C>G	1.37:g.26856442C>G	ENSP00000363283:p.Pro11Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	4	NM_002953	0	0	2	4	2	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.129099	0.37533	.	.	ENSG00000117676	ENST00000374168;ENST00000374166	T;T	0.69175	-0.38;-0.26	3.94	3.03	0.35002	.	.	.	.	.	T	0.53142	0.1778	L	0.28274	0.84	0.80722	D	1	P	0.43392	0.805	P	0.47134	0.539	T	0.42172	-0.9467	9	0.11485	T	0.65	.	7.3997	0.26956	0.0:0.8771:0.0:0.1229	.	11	Q15418	KS6A1_HUMAN	A	11	ENSP00000363283:P11A;ENSP00000363281:P11A	ENSP00000363281:P11A	P	+	1	0	RPS6KA1	26729029	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.662000	0.25038	0.884000	0.36064	0.450000	0.29827	CCG	.		0.791	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856442	C	G	26856442	3	3	62	1	0	0	0	0	1	0	0	0	13695	739	26	3	33	3	RPS6KA1	1	26856442	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1880974	26856442	222394179	48	12416											
RPS6KA1	6195	hgsc.bcm.edu	37	chr1	26856462	26856462	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcatggagctagtgccTctggacccggaggtgagtga	15	11	2	2	rs11800553	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000374162.2_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2	2	2					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		G	26856462	T	G	26856462	2	3	62	1	0	0	0	0	0	0	0	1	13695	1538	54	5		5	RPS6KA1	1	26856462	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	20	26856462	222394159	49	12417											
TMEM222	84065	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27648800	27648800	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agacggacatgaagcaatatCaaggctccggcggcgtcgcc	13	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27648800C>A	ENST00000374076.4	+	1	150	c.112C>A	c.(112-114)Caa>Aaa	p.Q38K	RNU6-48P_ENST00000384161.1_RNA|TMEM222_ENST00000608611.1_Missense_Mutation_p.Q5K	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	38						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GAAGCAATATCAAGGCTCCGG	0.662																																					p.Q38K		.											.	TMEM222-90	0			c.C112A						.						33	29	30					1																	27648800		2202	4298	6500	SO:0001583	missense	84065	exon1			CAATATCAAGGCT	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 160"	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.112C>A	1.37:g.27648800C>A	ENSP00000363189:p.Gln38Lys	Somatic	233	3		WXS	Illumina GAIIx	Phase_I	388	144	NM_032125	0	0	21	34	13	D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	37	CCDS297.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.727017|-1.727017	0.00694|0.00694	.|.	.|.	ENSG00000186501|ENSG00000186501	ENST00000374076;ENST00000374073;ENST00000498220|ENST00000466759;ENST00000464813	.|.	.|.	.|.	3.87|3.87	2.91|2.91	0.33838|0.33838	.|.	1.448370|.	0.04756|.	U|.	0.425472|.	T|.	0.17109|.	0.0411|.	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|.	0.23226|.	-1.0194|.	9|.	0.06236|.	T|.	0.91|.	0.2124|0.2124	5.9636|5.9636	0.19313|0.19313	0.4439:0.4002:0.1559:0.0|0.4439:0.4002:0.1559:0.0	.|.	38|.	Q9H0R3|.	TM222_HUMAN|.	K|X	38;5;4|19;10	.|.	ENSP00000363186:Q5K|.	Q|S	+|+	1|2	0|0	TMEM222|TMEM222	27521387|27521387	0.010000|0.010000	0.17322|0.17322	0.002000|0.002000	0.10522|0.10522	0.041000|0.041000	0.13682|0.13682	2.011000|2.011000	0.40922|0.40922	0.763000|0.763000	0.33175|0.33175	0.561000|0.561000	0.74099|0.74099	CAA|TCA	.		0.662	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		A	27648800	C	A	27648800	3	1	62	1	0	0	0	0	1	0	0	0	16192	827	29	3	114	3	TMEM222	1	27648800	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	792338	27648800	221601821	50	12418											
GPR3	2827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27720657	27720657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttggcgtgctggcaatgGcctttaccgccagcatcggc	14	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27720657G>A	ENST00000374024.3	+	2	454	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	119					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGGCAATGGCCTTTACCGC	0.582																																					p.A119T		.											.	GPR3-91	0			c.G355A						.						108	99	102					1																	27720657		2203	4300	6503	SO:0001583	missense	2827	exon2			GCAATGGCCTTTA	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.355G>A	1.37:g.27720657G>A	ENSP00000363136:p.Ala119Thr	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	119	53	NM_005281	0	0	13	24	11	A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641463	0.67244	.	.	ENSG00000181773	ENST00000374024	T	0.37584	1.19	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.072453	0.53938	D	0.000054	T	0.39358	0.1075	L	0.43646	1.37	0.48135	D	0.999599	P	0.45768	0.866	P	0.48270	0.572	T	0.20405	-1.0276	10	0.62326	D	0.03	.	12.2623	0.54658	0.0:0.0:0.7172:0.2828	.	119	P46089	GPR3_HUMAN	T	119	ENSP00000363136:A119T	ENSP00000363136:A119T	A	+	1	0	GPR3	27593244	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	4.598000	0.61069	2.561000	0.86390	0.462000	0.41574	GCC	.		0.582	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		A	27720657	G	A	27720657	3	1	62	1	0	0	0	0	1	0	0	0	6712	1203	42	3	357	3	GPR3	1	27720657	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	71857	27720657	221529964	51	12419											
AHDC1	27245	hgsc.bcm.edu	37	chr1	27877519	27877519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccgggggggccgtgcgGtgagcacaagtccaggcgca	19	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27877519G>A	ENST00000247087.5	-	5	1704	c.1108C>T	c.(1108-1110)Ccg>Tcg	p.P370S	AHDC1_ENST00000374011.2_Missense_Mutation_p.P370S			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	370	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		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;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCCGTGCGGTGAGCACAAG	0.706																																					p.P370S		.											.	AHDC1-90	0			c.C1108T						.						7	7	7					1																	27877519		2078	4050	6128	SO:0001583	missense	27245	exon6			CGTGCGGTGAGCA	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1108C>T	1.37:g.27877519G>A	ENSP00000247087:p.Pro370Ser	Somatic	7	0		WXS	Illumina GAIIx	Phase_I	48	25	NM_001029882	0	0	11	24	13	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920455	0.52653	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.60040	0.22;0.22	5.04	4.11	0.48088	.	0.000000	0.44483	U	0.000454	T	0.58793	0.2147	N	0.14661	0.345	0.30539	N	0.766632	D	0.60575	0.988	D	0.75484	0.986	T	0.62238	-0.6896	10	0.62326	D	0.03	-11.0771	12.0599	0.53557	0.0:0.0:0.8273:0.1727	.	370	Q5TGY3	AHDC1_HUMAN	S	370	ENSP00000247087:P370S;ENSP00000363123:P370S	ENSP00000247087:P370S	P	-	1	0	AHDC1	27750106	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.739000	0.47409	1.320000	0.45209	0.585000	0.79938	CCG	.		0.706	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			A	27877519	G	A	27877519	3	1	62	1	0	0	0	0	1	0	0	0	412	1261	44	3	3707	3	AHDC1	1	27877519	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	156862	27877519	221373102	52	12420											
HCRTR1	3061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32084894	32084894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgagtttctccgctAtctgtggcgcgattatctgt	11	8	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32084894A>G	ENST00000373706.5	+	1	254	c.101A>G	c.(100-102)tAt>tGt	p.Y34C	HCRTR1_ENST00000403528.2_Missense_Mutation_p.Y34C|HCRTR1_ENST00000373705.1_Missense_Mutation_p.Y34C|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	34					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TTTCTCCGCTATCTGTGGCGC	0.607																																					p.Y34C		.											.	HCRTR1-523	0			c.A101G						.						148	149	148					1																	32084894		2203	4300	6503	SO:0001583	missense	3061	exon3			TCCGCTATCTGTG	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.101A>G	1.37:g.32084894A>G	ENSP00000362810:p.Tyr34Cys	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	132	66	NM_001525	0	0	0	0	0	A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627845	0.66901	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.61158	0.13;0.13;0.38	3.91	3.91	0.45181	.	0.000000	0.64402	D	0.000002	T	0.63850	0.2546	L	0.47190	1.495	0.44966	D	0.997982	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.829	T	0.62671	-0.6805	10	0.38643	T	0.18	.	11.3471	0.49567	1.0:0.0:0.0:0.0	.	34;34	A6NMV7;O43613	.;OX1R_HUMAN	C	34	ENSP00000384387:Y34C;ENSP00000362810:Y34C;ENSP00000362809:Y34C	ENSP00000362809:Y34C	Y	+	2	0	HCRTR1	31857481	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.375000	0.79646	1.704000	0.51252	0.533000	0.62120	TAT	.		0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		G	32084894	A	G	32084894	3	3	62	1	0	0	0	0	1	0	0	0	7028	449	16	4	103	4	HCRTR1	1	32084894	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4207375	32084894	217165727	53	12421											
BAI2	576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	32197006	32197006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgggttgcaagtgttgaCctccttgaacagcactgggg	15	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32197006C>T	ENST00000373658.3	-	29	4116	c.3775G>A	c.(3775-3777)Gtc>Atc	p.V1259I	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.V1226I|BAI2_ENST00000527361.1_Missense_Mutation_p.V1226I|BAI2_ENST00000373655.2_Missense_Mutation_p.V1259I|BAI2_ENST00000440175.2_Missense_Mutation_p.V868I|BAI2_ENST00000398538.1_Missense_Mutation_p.V1247I|BAI2_ENST00000398547.1_Missense_Mutation_p.V1192I|BAI2_ENST00000398542.1_Missense_Mutation_p.V1159I|BAI2_ENST00000398556.3_Missense_Mutation_p.V1174I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1259					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAGTGTTGACCTCCTTGAAC	0.632																																					p.V1259I		.											.	BAI2-526	0			c.G3775A						.						31	28	29					1																	32197006		2202	4298	6500	SO:0001583	missense	576	exon29			TGTTGACCTCCTT	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3775G>A	1.37:g.32197006C>T	ENSP00000362762:p.Val1259Ile	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	199	91	NM_001703	0	0	1	1	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070550	0.08436	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.44083	1.6;1.87;1.03;1.03;1.98;0.93;0.93;1.64;1.06	4.88	3.97	0.46021	.	0.000000	0.37219	N	0.002197	T	0.26122	0.0637	N	0.24115	0.695	0.34410	D	0.696298	B;B;B;B;B;B;B	0.28324	0.207;0.067;0.007;0.112;0.207;0.04;0.04	B;B;B;B;B;B;B	0.36186	0.219;0.032;0.013;0.023;0.219;0.014;0.023	T	0.27434	-1.0074	10	0.02654	T	1	.	8.2418	0.31665	0.1548:0.765:0.0:0.0802	.	1226;1247;868;1174;1259;1259;1247	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	I	1174;1192;1259;1259;1159;1226;1226;868;1247	ENSP00000381564:V1174I;ENSP00000381555:V1192I;ENSP00000362762:V1259I;ENSP00000362759:V1259I;ENSP00000381550:V1159I;ENSP00000257070:V1226I;ENSP00000435397:V1226I;ENSP00000391071:V868I;ENSP00000381548:V1247I	ENSP00000257070:V1226I	V	-	1	0	BAI2	31969593	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	2.065000	0.41442	1.189000	0.43028	0.561000	0.74099	GTC	.		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32197006	C	T	32197006	3	4	62	1	0	0	0	0	1	0	0	0	1300	507	18	3	1002	3	BAI2	1	32197006	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	112112	32197006	217053615	54	12422											
BAI2	576	broad.mit.edu;bcgsc.ca	37	chr1	32198634	32198634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcggagttgaagacaGcaaagagggcctggaagagg	17	8	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32198634G>A	ENST00000373658.3	-	26	3904	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.A1155V|BAI2_ENST00000527361.1_Missense_Mutation_p.A1155V|BAI2_ENST00000373655.2_Missense_Mutation_p.A1188V|BAI2_ENST00000440175.2_Missense_Mutation_p.A797V|BAI2_ENST00000398538.1_Missense_Mutation_p.A1176V|BAI2_ENST00000398547.1_Missense_Mutation_p.A1121V|BAI2_ENST00000398542.1_Missense_Mutation_p.A1088V|BAI2_ENST00000398556.3_Missense_Mutation_p.A1103V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1188					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTTGAAGACAGCAAAGAGGGC	0.647																																					p.A1188V		.											.	BAI2-526	0			c.C3563T						.						69	50	56					1																	32198634		2194	4293	6487	SO:0001583	missense	576	exon26			AAGACAGCAAAGA	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3563C>T	1.37:g.32198634G>A	ENSP00000362762:p.Ala1188Val	Somatic	330	0		WXS	Illumina GAIIx	Phase_I	450	16	NM_001703	0	0	2	3	1	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	34	5.346836	0.95807	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;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;1.02	4.71	4.71	0.59529	GPCR, family 2-like (1);	0.000000	0.37955	N	0.001870	T	0.58380	0.2118	L	0.42487	1.325	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.987;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.977;0.996;0.998;0.955;0.994;0.998;0.998	T	0.62530	-0.6835	10	0.87932	D	0	.	17.6409	0.88136	0.0:0.0:1.0:0.0	.	1155;1176;797;1103;1188;1188;1176	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	V	1103;1121;1188;1188;1088;1155;1155;797;1176	ENSP00000381564:A1103V;ENSP00000381555:A1121V;ENSP00000362762:A1188V;ENSP00000362759:A1188V;ENSP00000381550:A1088V;ENSP00000257070:A1155V;ENSP00000435397:A1155V;ENSP00000391071:A797V;ENSP00000381548:A1176V	ENSP00000257070:A1155V	A	-	2	0	BAI2	31971221	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	8.004000	0.88535	2.337000	0.79520	0.561000	0.74099	GCT	.		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32198634	G	A	32198634	3	1	62	1	0	0	0	0	1	0	0	0	1300	971	34	3	1226	3	BAI2	1	32198634	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1628	32198634	217051987	55	12423											
SFPQ	6421	hgsc.bcm.edu	37	chr1	35658609	35658609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgcctgtggaagccAccaccgccaccgccacgact	8	21	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:35658609A>G	ENST00000357214.5	-	1	140	c.42T>C	c.(40-42)ggT>ggC	p.G14G	Y_RNA_ENST00000364998.1_RNA	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	14	3 X 3 AA repeats of R-G-G.|Gln/Glu/Pro-rich.|Poly-Gly.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				tgtggaagccaccaccgccac	0.677			T	TFE3	papillary renal cell																																p.G14G		.		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	SFPQ-231	0			c.T42C						.						6	6	6					1																	35658609		1779	3604	5383	SO:0001819	synonymous_variant	6421	exon1			GAAGCCACCACCG	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.42T>C	1.37:g.35658609A>G		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	17	9	NM_005066	0	0	31	58	27	P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	37	CCDS388.1																																																																																			.		0.677	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		G	35658609	A	G	35658609	2	3	62	1	0	0	0	0	0	0	0	1	14205	146	6	4		4	SFPQ	1	35658609	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3459975	35658609	213592012	56	12424											
EIF2C3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36437666	36437666	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggggaaggtggaaaagaTcgacctttcaaggtgtcaat	13	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:36437666T>A	ENST00000373191.4	+	4	703	c.354T>A	c.(352-354)gaT>gaA	p.D118E	AGO3_ENST00000397828.2_Missense_Mutation_p.D118E|AGO3_ENST00000324350.5_Missense_Mutation_p.D118E|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	118					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)										GTGGAAAAGATCGACCTTTCA	0.413																																					p.D118E		.											.	.	0			c.T354A						.						120	107	111					1																	36437666		2203	4300	6503	SO:0001583	missense	192669	exon4			AAAAGATCGACCT	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.354T>A	1.37:g.36437666T>A	ENSP00000362287:p.Asp118Glu	Somatic	231	0		WXS	Illumina GAIIx	Phase_I	273	113	NM_024852	0	0	2	8	6	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851144	0.51270	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.09630	2.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	L	0.31752	0.955	0.54753	D	0.999983	B;B	0.20052	0.004;0.041	B;B	0.22880	0.008;0.042	T	0.14980	-1.0453	10	0.07325	T	0.83	-44.8474	10.196	0.43054	0.0:0.0748:0.0:0.9252	.	118;118	Q9H9G7;Q5TA56	AGO3_HUMAN;.	E	118	ENSP00000362287:D118E	ENSP00000317425:D118E	D	+	3	2	EIF2C3	36210253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.946000	0.29069	2.176000	0.68965	0.460000	0.39030	GAT	.		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36437666	T	A	36437666	3	1	62	1	0	0	0	0	1	0	0	0	5021	1432	50	5	368	5	EIF2C3	1	36437666	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	779057	36437666	212812955	57	12425											
EIF2C3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36437741	36437741	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgaagtactgacaggacgGaccttgcctgagccactgga	12	11	0	3	rs370300022		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:36437741G>A	ENST00000373191.4	+	4	778	c.429G>A	c.(427-429)cgG>cgA	p.R143R	AGO3_ENST00000397828.2_Silent_p.R143R|AGO3_ENST00000324350.5_Silent_p.R143R|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	143					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)										TGACAGGACGGACCTTGCCTG	0.512																																					p.R143R		.											.	.	0			c.G429A						.						187	149	162					1																	36437741		2203	4300	6503	SO:0001819	synonymous_variant	192669	exon4			AGGACGGACCTTG	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.429G>A	1.37:g.36437741G>A		Somatic	264	0		WXS	Illumina GAIIx	Phase_I	324	94	NM_024852	0	0	2	3	1	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																			.		0.512	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36437741	G	A	36437741	2	1	62	1	0	0	0	0	0	0	0	1	5021	1161	41	3		3	EIF2C3	1	36437741	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	75	36437741	212812880	58	12426											
MACF1	23499	hgsc.bcm.edu;bcgsc.ca	37	chr1	39751304	39751305	+	Frame_Shift_Ins	INS	-	-	GGTA													cacctggaatcaggacaaccINSggtacaatgtgagtcagatg					rs138060421	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:39751304_39751305insGGTA	ENST00000372915.3	+	13	1484_1485	c.1397_1398insGGTA	c.(1396-1401)ccggtafs	p.-467fs	MACF1_ENST00000361689.2_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-462fs|MACF1_ENST00000539005.1_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000545844.1_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000317713.7_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-499fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						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)			TCAGGACAACCGGTACAATGTG	0.495																																					p.P466fs		.											.	MACF1-165	0			c.1397_1398insGGTA						.																																			SO:0001589	frameshift_variant	23499	exon15			GACAACCGGTACA	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.1398_1401dupGGTA	1.37:g.39751305_39751308dupGGTA	ENSP00000362006:p.Val467fs	Somatic	181	1		WXS	Illumina GAIIx	Phase_I	214	73	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37																																																																																				.		0.495	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		GGTA	39751305	-	GGTA	39751304	7	5	62	1	0	1	1	0	0	0	0	0	9180	652	23	0	1447	0	MACF1	1	39751304	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	3313563	39751304	209499317	59	12427											
MACF1	23499	broad.mit.edu	37	chr1	39760802	39760802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttcacttgagaaccacCcagccaagcagacagtggag	9	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:39760802C>A	ENST00000372915.3	+	18	2341	c.2254C>A	c.(2254-2256)Cca>Aca	p.P752T	MACF1_ENST00000361689.2_Missense_Mutation_p.P752T|MACF1_ENST00000564288.1_Missense_Mutation_p.P747T|MACF1_ENST00000539005.1_Missense_Mutation_p.P752T|MACF1_ENST00000545844.1_Missense_Mutation_p.P752T|MACF1_ENST00000317713.7_Missense_Mutation_p.P752T|MACF1_ENST00000567887.1_Missense_Mutation_p.P784T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	752					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)			TGAGAACCACCCAGCCAAGCA	0.413																																					p.P752T		.											.	MACF1-165	0			c.C2254A						.						85	86	86					1																	39760802		2203	4300	6503	SO:0001583	missense	23499	exon20			AACCACCCAGCCA	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.2254C>A	1.37:g.39760802C>A	ENSP00000362006:p.Pro752Thr	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	100	3	NM_012090	0	0	3	3	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	32	5.140232	0.94560	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.57	5.57	0.84162	.	.	.	.	.	D	0.98526	0.9508	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79108	0.992;0.985	D	0.99120	1.0849	9	0.87932	D	0	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	752;717	F8W8Q1;Q9UPN3-3	.;.	T	752;752;752;752;752;710;901;912	ENSP00000439537:P752T;ENSP00000362006:P752T;ENSP00000354573:P752T;ENSP00000313438:P752T;ENSP00000444364:P752T;ENSP00000435070:P710T;ENSP00000437059:P901T	ENSP00000313438:P752T	P	+	1	0	MACF1	39533389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.695000	0.84257	2.785000	0.95823	0.655000	0.94253	CCA	.		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39760802	C	A	39760802	3	1	62	1	0	0	0	0	1	0	0	0	9180	623	22	3	2324	3	MACF1	1	39760802	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	9498	39760802	209489819	60	12428											
PPCS	79717	hgsc.bcm.edu	37	chr1	42922266	42922266	+	Frame_Shift_Del	DEL	C	C	-													atggatccggtagccgagttCccccagcctcccggtgctgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:42922266delC	ENST00000372561.3	+	1	37	c.30delC	c.(28-30)ttcfs	p.F10fs	ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Frame_Shift_Del_p.F10fs|PPCS_ENST00000472013.1_3'UTR|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000455780.1_5'UTR|PPCS_ENST00000372556.3_Frame_Shift_Del_p.F10fs	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	10					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)				TAGCCGAGTTCCCCCAGCCTC	0.726																																					p.F10fs		.											.	PPCS-90	0			c.30delC						.						8	10	10					1																	42922266		1836	3991	5827	SO:0001589	frameshift_variant	79717	exon1			CGAGTTCCCCCAG	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.30delC	1.37:g.42922266delC	ENSP00000361642:p.Phe10fs	Somatic	12	1		WXS	Illumina GAIIx	Phase_I	89	37	NM_024664	0	0	0	0	0	Q3KQT2|Q5VVM0	Frame_Shift_Del	DEL	ENST00000372561.3	37	CCDS41311.1																																																																																			.		0.726	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		-	42922266	C	-	42922266	7	5	62	1	0	1	0	1	0	0	0	0	12344	854	30	0	32	0	PPCS	1	42922266	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	3161464	42922266	206328355	61	12429											
YBX1	4904	broad.mit.edu;bcgsc.ca	37	chr1	43166582	43166582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaattaccgacgcagaCgcccagaaaaccctaaacca	5	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:43166582C>T	ENST00000321358.7	+	7	1010	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	291					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGACGCAGACGCCCAGAAAA	0.547																																					p.R291C		.											.	YBX1-95	0			c.C871T						.						77	70	73					1																	43166582		2203	4300	6503	SO:0001583	missense	4904	exon7			CGCAGACGCCCAG	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.871C>T	1.37:g.43166582C>T	ENSP00000361626:p.Arg291Cys	Somatic	472	2		WXS	Illumina GAIIx	Phase_I	601	65	NM_004559	1	0	1814	1816	1	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426002	0.62733	.	.	ENSG00000065978	ENST00000321358;ENST00000318612	T	0.36878	1.23	5.35	5.35	0.76521	.	0.351810	0.38111	N	0.001808	T	0.38081	0.1027	L	0.58510	1.815	0.80722	D	1	B	0.16166	0.016	B	0.06405	0.002	T	0.15983	-1.0418	10	0.49607	T	0.09	-4.6284	16.6288	0.85011	0.0:1.0:0.0:0.0	.	291	P67809	YBOX1_HUMAN	C	291;281	ENSP00000361626:R291C	ENSP00000361621:R281C	R	+	1	0	YBX1	42939169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.126000	0.77201	2.501000	0.84356	0.552000	0.68991	CGC	.		0.547	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		T	43166582	C	T	43166582	3	4	62	1	0	0	0	0	1	0	0	0	17518	536	19	1	897	1	YBX1	1	43166582	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	244316	43166582	206084039	62	12430											
ERMAP	114625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	43308843	43308843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagctgaaggatataatCctgtccttgccccctgacct	8	14	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:43308843C>T	ENST00000372517.2	+	12	1612	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000328249.3_Silent_p.I366I|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372514.3_Silent_p.I456I|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000444563.1_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	456			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGATATAATCCTGTCCTTGC	0.547																																					p.I456I		.											.	ERMAP-91	0			c.C1368T						.						69	69	69					1																	43308843		2203	4300	6503	SO:0001819	synonymous_variant	114625	exon11			TATAATCCTGTCC	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1368C>T	1.37:g.43308843C>T		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	121	49	NM_018538	0	0	12	16	4	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	ENST00000372517.2	37	CCDS475.1																																																																																			.		0.547	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		T	43308843	C	T	43308843	2	4	62	1	0	0	0	0	0	0	0	1	5250	845	30	3		3	ERMAP	1	43308843	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	142261	43308843	205941778	63	12431											
PTPRF	5792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	44083409	44083409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctttcttatccataggcGtccccgggagtgactacatc	8	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:44083409G>A	ENST00000359947.4	+	25	4538	c.4198G>A	c.(4198-4200)Gtc>Atc	p.V1400I	PTPRF_ENST00000372414.3_Missense_Mutation_p.V1400I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.V1391I|PTPRF_ENST00000422171.2_Missense_Mutation_p.V759I|PTPRF_ENST00000438120.1_Missense_Mutation_p.V1391I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1400	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATAGGCGTCCCCGGGAG	0.597																																					p.V1400I		.											.	PTPRF-232	0			c.G4198A						.						53	55	54					1																	44083409		2203	4300	6503	SO:0001583	missense	5792	exon25			ATAGGCGTCCCCG	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.4198G>A	1.37:g.44083409G>A	ENSP00000353030:p.Val1400Ile	Somatic	235	1		WXS	Illumina GAIIx	Phase_I	342	134	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.173|2.173	-0.389394|-0.389394	0.04932|0.04932	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|D;D;D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.31347	.|N	.|0.007808	T|T	0.70159|0.70159	0.3192|0.3192	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.14438	.|0.004;0.001;0.005;0.01;0.003	.|B;B;B;B;B	.|0.14023	.|0.01;0.002;0.005;0.003;0.004	T|T	0.66027|0.66027	-0.6025|-0.6025	5|10	.|0.05620	.|T	.|0.96	.|.	19.9573|19.9573	0.97224|0.97224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1045;759;977;1391;1400	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	H|I	783;824|1400;1391;1400;1391;759;472	.|ENSP00000353030:V1400I;ENSP00000398822:V1391I;ENSP00000361491:V1400I;ENSP00000361490:V1391I;ENSP00000387885:V759I;ENSP00000361484:V472I	.|ENSP00000353030:V1400I	R|V	+|+	2|1	0|0	PTPRF|PTPRF	43855996|43855996	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.224000|0.224000	0.24922|0.24922	3.275000|3.275000	0.51639|0.51639	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	CGT|GTC	.		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44083409	G	A	44083409	3	1	62	1	0	0	0	0	1	0	0	0	12846	1145	40	1	4288	1	PTPRF	1	44083409	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	774566	44083409	205167212	64	12432											
SLC6A9	6536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	44466854	44466855	+	Missense_Mutation	DNP	GC	GC	TG													acctggctggtgagggggatGcccagcaggaagccagccac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:44466854_44466855GC>TG	ENST00000360584.2	-	10	1726_1727	c.1535_1536GC>CA	c.(1534-1536)gGC>gCA	p.G512A	SLC6A9_ENST00000537678.1_Missense_Mutation_p.G374A|SLC6A9_ENST00000372306.3_Missense_Mutation_p.G439A|SLC6A9_ENST00000475075.2_Missense_Mutation_p.G328A|SLC6A9_ENST00000372307.3_Missense_Mutation_p.G374A|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G458A|SLC6A9_ENST00000372310.3_Missense_Mutation_p.G439A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	512					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGAGGGGGATGCCCAGCAGGAA	0.629																																					p.G512A		.											.	SLC6A9-90	0			c.G1535C						.																																			SO:0001583	missense	6536	exon10			GGGATGCCCAGCA	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1535_1536delinsTG	1.37:g.44466854_44466855delinsTG	ENSP00000353791:p.Gly512Ala	Somatic	291	0		WXS	Illumina GAIIx	Phase_I	378	0	NM_201649	0	0	0	0	0	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	DNP	ENST00000360584.2	37	CCDS41317.1																																																																																			.		0.629	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		TG	44466855	GC	TG	44466854	3	4	62	1	0	0	0	0	1	0	0	0	14736	1306	46	3	604	3	SLC6A9	1	44466854	Missense_Mutation	DNP	GC	TCGA-PK-A5HB-01A-11D-A29I-10	383445	44466854	204783767	65	12433											
TESK2	10420	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	45923405	45923405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcaaactcttcaagaCgctccacacgtggaggaaat	7	13	3	1	rs149714069	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:45923405C>T	ENST00000372086.3	-	2	453	c.53G>A	c.(52-54)cGt>cAt	p.R18H	TESK2_ENST00000451835.2_Missense_Mutation_p.R18H|TESK2_ENST00000372084.1_Missense_Mutation_p.R18H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.R18H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	18					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAAGACGCTCCACACG	0.443													C|||	21	0.00419329	0	0.0014	5008	,	,		18422	0		0.003	False		,,,				2504	0.0174				p.R18H		.											.	TESK2-624	0			c.G53A						.	C	HIS/ARG	0,3802		0,0,1901	122	123	123		53	5.1	1	1	dbSNP_134	123	17,8221		0,17,4102	yes	missense	TESK2	NM_007170.2	29	0,17,6003	TT,TC,CC		0.2064,0.0,0.1412	probably-damaging	18/572	45923405	17,12023	1901	4119	6020	SO:0001583	missense	10420	exon2			TCAAGACGCTCCA	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.53G>A	1.37:g.45923405C>T	ENSP00000361158:p.Arg18His	Somatic	80	1		WXS	Illumina GAIIx	Phase_I	114	47	NM_007170	0	0	1	1	0	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	14.97	2.695295	0.48202	0.0	0.002064	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	T;T;T;T	0.73681	-0.77;-0.75;-0.77;2.38	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000007	T	0.63977	0.2557	L	0.29908	0.895	0.40867	D	0.983889	B;B;B	0.34255	0.006;0.445;0.317	B;B;B	0.25140	0.001;0.058;0.026	T	0.69669	-0.5083	10	0.87932	D	0	-6.1105	18.4182	0.90577	0.0:1.0:0.0:0.0	.	18;18;18	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	H	18	ENSP00000361156:R18H;ENSP00000361158:R18H;ENSP00000343940:R18H;ENSP00000397244:R18H	ENSP00000343940:R18H	R	-	2	0	TESK2	45695992	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	3.091000	0.50199	2.365000	0.80145	0.585000	0.79938	CGT	C|0.998;T|0.002		0.443	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		T	45923405	C	T	45923405	3	4	62	1	0	0	0	0	1	0	0	0	15815	536	19	1	1702	1	TESK2	1	45923405	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1456551	45923405	203327216	66	12434											
PIK3R3	8503	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	46509408	46509410	+	In_Frame_Del	DEL	GTT	GTT	-													agcctgacgttgagggagtcGttgtgctgaaccaaggatgt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GTT	GTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:46509408_46509410delGTT	ENST00000262741.5	-	10	2010_2012	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	PIK3R3_ENST00000372006.1_In_Frame_Del_p.N441del|PIK3R3_ENST00000340332.6_In_Frame_Del_p.N346del|PIK3R3_ENST00000420542.1_In_Frame_Del_p.N441del|PIK3R3_ENST00000354242.4_In_Frame_Del_p.N382del|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000540385.1_In_Frame_Del_p.N487del|PIK3R3_ENST00000423209.1_In_Frame_Del_p.N382del	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	441	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGAGGGAGTCGTTGTGCTGAACC	0.532																																					p.441_441del		.											.	PIK3R3-1309	0			c.1321_1323del						.																																			SO:0001651	inframe_deletion	8503	exon10			GGAGTCGTTGTGC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1321_1323delAAC	1.37:g.46509408_46509410delGTT	ENSP00000262741:p.Asn441del	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	169	74	NM_003629	0	0	0	0	0	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	In_Frame_Del	DEL	ENST00000262741.5	37	CCDS529.1																																																																																			.		0.532	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		-	46509410	GTT	-	46509408	7	5	62	1	0	1	0	1	0	0	0	0	11959	1136	40	0	66	0	PIK3R3	1	46509408	In_Frame_Del	DEL	GTT	TCGA-PK-A5HB-01A-11D-A29I-10	586003	46509408	202741213	67	12435											
PIK3R3	8503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	46509521	46509521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgctgtagatcacacAgtgcttcacttccccatcgg	9	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:46509521A>G	ENST00000262741.5	-	10	1899	c.1210T>C	c.(1210-1212)Tgt>Cgt	p.C404R	PIK3R3_ENST00000372006.1_Missense_Mutation_p.C404R|PIK3R3_ENST00000340332.6_Missense_Mutation_p.C309R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.C404R|PIK3R3_ENST00000354242.4_Missense_Mutation_p.C345R|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000540385.1_Missense_Mutation_p.C450R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.C345R|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	404	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TAGATCACACAGTGCTTCACT	0.483																																					p.C404R		.											.	PIK3R3-1309	0			c.T1210C						.						97	84	88					1																	46509521		2203	4300	6503	SO:0001583	missense	8503	exon10			TCACACAGTGCTT	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1210T>C	1.37:g.46509521A>G	ENSP00000262741:p.Cys404Arg	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	113	53	NM_003629	0	0	16	33	17	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946217	0.73672	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.64	5.64	0.86602	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.93678	3.445	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	0.96984	0.9717	10	0.87932	D	0	-5.0396	15.862	0.79032	1.0:0.0:0.0:0.0	.	450;437;345;404	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	404;404;404;345;309;450;345	ENSP00000361075:C404R;ENSP00000262741:C404R;ENSP00000412546:C404R;ENSP00000346188:C345R;ENSP00000342484:C309R;ENSP00000439913:C450R;ENSP00000391431:C345R	ENSP00000262741:C404R	C	-	1	0	PIK3R3	46282108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.145000	0.66743	0.460000	0.39030	TGT	A|1.000;G|0.000		0.483	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		G	46509521	A	G	46509521	3	3	62	1	0	0	0	0	1	0	0	0	11959	188	7	4	179	4	PIK3R3	1	46509521	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	113	46509521	202741100	68	12436											
KIAA0494	9813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	47182080	47182080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacaaaaccacagagcGgataacagatcttgcagcat	10	9	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:47182080G>A	ENST00000371933.3	-	2	1197	c.221C>T	c.(220-222)cCg>cTg	p.P74L	EFCAB14_ENST00000544071.1_Missense_Mutation_p.P74L	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	74							calcium ion binding (GO:0005509)										ACCACAGAGCGGATAACAGAT	0.463																																					p.P74L		.											.	.	0			c.C221T						.						121	102	109					1																	47182080		2203	4300	6503	SO:0001583	missense	9813	exon2			CAGAGCGGATAAC	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.221C>T	1.37:g.47182080G>A	ENSP00000361001:p.Pro74Leu	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	264	107	NM_014774	0	0	46	80	34	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017430	0.75161	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.56941	0.43;1.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74595	-0.3613	10	0.87932	D	0	-2.1344	19.0551	0.93059	0.0:0.0:1.0:0.0	.	74;74;74	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	L	74	ENSP00000442465:P74L;ENSP00000361001:P74L	ENSP00000361001:P74L	P	-	2	0	KIAA0494	46954667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.972000	0.93424	2.730000	0.93505	0.655000	0.94253	CCG	.		0.463	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		A	47182080	G	A	47182080	3	1	62	1	0	0	0	0	1	0	0	0	8206	1116	39	1	1306	1	KIAA0494	1	47182080	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	672559	47182080	202068541	69	12437											
FOXD2	2306	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	47904233	47904233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaccatggccatcctgcaGagccccaagaagcggctgac	10	15	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:47904233G>A	ENST00000334793.5	+	1	2545	c.426G>A	c.(424-426)caG>caA	p.Q142Q		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	142					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CCATCCTGCAGAGCCCCAAGA	0.687																																					p.Q142Q		.											.	FOXD2-226	0			c.G426A						.						41	48	46					1																	47904233		2203	4300	6503	SO:0001819	synonymous_variant	2306	exon1			CCTGCAGAGCCCC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.426G>A	1.37:g.47904233G>A		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	321	136	NM_004474	0	0	0	3	3	Q5SVZ3	Silent	SNP	ENST00000334793.5	37	CCDS30708.1																																																																																			.		0.687	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		A	47904233	G	A	47904233	2	1	62	1	0	0	0	0	0	0	0	1	6019	933	33	3		3	FOXD2	1	47904233	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	722153	47904233	201346388	70	12438											
DMRTA2	63950	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	50885264	50885264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccgagcctgagccgggCcgcacctctggggacgacgt	14	15	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:50885264C>T	ENST00000404795.3	-	3	1094	c.702G>A	c.(700-702)cgG>cgA	p.R234R	DMRTA2_ENST00000418121.1_Silent_p.R234R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	234	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CTGAGCCGGGCCGCACCTCTG	0.726																																					p.R234R	Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	.											.	.	0			c.G702A						.																																			SO:0001819	synonymous_variant	63950	exon3			GCCGGGCCGCACC	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.702G>A	1.37:g.50885264C>T		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	109	50	NM_032110	0	0	0	0	0	Q5TFQ3	Silent	SNP	ENST00000404795.3	37	CCDS44141.1																																																																																			.		0.726	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		T	50885264	C	T	50885264	2	4	62	1	0	0	0	0	0	0	0	1	4603	726	26	3		3	DMRTA2	1	50885264	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2981031	50885264	198365357	71	12439											
BTF3L4	91408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	52552390	52552390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttcagatcttgTagaaaattttgatgaggcat	7	4	3	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:52552390T>G	ENST00000313334.8	+	6	705	c.437T>G	c.(436-438)gTa>gGa	p.V146G	BTF3L4_ENST00000489308.2_Nonstop_Mutation_p.*79E|BTF3L4_ENST00000472944.2_Missense_Mutation_p.V88G	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	146										endometrium(2)|kidney(1)|large_intestine(2)	5						TCAGATCTTGTAGAAAATTTT	0.318																																					p.X79E		.											.	BTF3L4-135	0			c.T235G						.						58	61	60					1																	52552390		2201	4299	6500	SO:0001583	missense	91408	exon5			ATCTTGTAGAAAA	BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.437T>G	1.37:g.52552390T>G	ENSP00000360664:p.Val146Gly	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	86	33	NM_001243767	0	0	0	0	0	B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	ENST00000313334.8	37	CCDS30713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.38|18.38	3.611121|3.611121	0.66558|0.66558	.|.	.|.	ENSG00000134717|ENSG00000134717	ENST00000313334;ENST00000472944|ENST00000489308	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84831|.	0.5559|.	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.56287|.	0.975|.	P|.	0.55577|.	0.779|.	D|.	0.88200|.	0.2883|.	9|.	0.62326|.	D|.	0.03|.	.|.	15.9869|15.9869	0.80160|0.80160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	146|.	Q96K17|.	BT3L4_HUMAN|.	G|E	146;88|79	.|.	ENSP00000360664:V146G|.	V|X	+|+	2|1	0|0	BTF3L4|BTF3L4	52324978|52324978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.424000|7.424000	0.80242|0.80242	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	GTA|TAG	.		0.318	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1	NM_152265		G	52552390	T	G	52552390	3	3	62	1	0	0	0	0	1	0	0	0	1556	1638	57	5	455	5	BTF3L4	1	52552390	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1667126	52552390	196698231	72	12440											
GPX7	2882	broad.mit.edu;bcgsc.ca	37	chr1	53068170	53068170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttctacgacttcaaggCggtcaacatccggggcaaac	11	12	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53068170C>T	ENST00000361314.4	+	1	127	c.89C>T	c.(88-90)gCg>gTg	p.A30V	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	30					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	GACTTCAAGGCGGTCAACATC	0.711																																					p.A30V		.											.	GPX7-90	0			c.C89T						.						28	21	23					1																	53068170		2197	4296	6493	SO:0001583	missense	2882	exon1			TCAAGGCGGTCAA	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.89C>T	1.37:g.53068170C>T	ENSP00000354677:p.Ala30Val	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	359	162	NM_015696	0	0	0	0	0	O95337|Q5T501	Missense_Mutation	SNP	ENST00000361314.4	37	CCDS569.1	.	.	.	.	.	.	.	.	.	.	C	8.016	0.758532	0.15846	.	.	ENSG00000116157	ENST00000361314	T	0.20881	2.04	3.84	1.86	0.25419	Thioredoxin-like fold (2);	0.219872	0.37304	N	0.002151	T	0.04724	0.0128	N	0.01529	-0.815	0.40666	D	0.982174	B	0.29886	0.26	B	0.17722	0.019	T	0.31420	-0.9944	10	0.07990	T	0.79	-8.9773	5.5388	0.17026	0.0:0.4412:0.0:0.5588	.	30	Q96SL4	GPX7_HUMAN	V	30	ENSP00000354677:A30V	ENSP00000354677:A30V	A	+	2	0	GPX7	52840758	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	1.254000	0.32897	0.526000	0.28541	0.655000	0.94253	GCG	.		0.711	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696		T	53068170	C	T	53068170	3	4	62	1	0	0	0	0	1	0	0	0	6772	768	27	1	91	1	GPX7	1	53068170	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	515780	53068170	196182451	73	12441											
C1orf163	65260	bcgsc.ca	37	chr1	53158531	53158531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaaatagtccaccagccGatagcaacctgcgagaagag	9	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53158531G>A	ENST00000371538.3	-	2	154	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCCACCAGCCGATAGCAACCT	0.552																																					p.R39W		.											.	SELRC1-90	0			c.C115T						.						64	66	65					1																	53158531		2203	4300	6503	SO:0001583	missense	65260	exon2			CCAGCCGATAGCA																												ENST00000371538.3:c.115C>T	1.37:g.53158531G>A	ENSP00000360593:p.Arg39Trp	Somatic	68	2		WXS	Illumina GAIIx	Phase_I	62	28	NM_023077	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371538.3	37	CCDS570.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047565	0.75846	.	.	ENSG00000162377	ENST00000371538	T	0.52057	0.68	6.0	5.02	0.67125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.71036	2.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.73708	0.981	T	0.70281	-0.4915	10	0.66056	D	0.02	-22.0507	17.9921	0.89172	0.0:0.0:0.8709:0.1291	.	39	Q96BR5	SELR1_HUMAN	W	39	ENSP00000360593:R39W	ENSP00000360593:R39W	R	-	1	2	SELRC1	52931119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.779000	0.47734	2.848000	0.98002	0.655000	0.94253	CGG	.		0.552	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			A	53158531	G	A	53158531	3	1	62	1	0	0	0	0	1	0	0	0	2018	1057	37	1	588	1	C1orf163	1	53158531	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	90361	53158531	196092090	74	12442											
PODN	127435	broad.mit.edu	37	chr1	53535706	53535706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgagccctgaggagcccgGgcctggcccagccgcggtca	15	16	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53535706G>T	ENST00000312553.5	+	2	330	c.323G>T	c.(322-324)gGg>gTg	p.G108V	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.G89V|PODN_ENST00000395871.2_Missense_Mutation_p.G108V	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	60					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						GAGGAGCCCGGGCCTGGCCCA	0.682																																					p.G108V		.											.	PODN-92	0			c.G323T						.						26	31	29					1																	53535706		2203	4299	6502	SO:0001583	missense	127435	exon2			AGCCCGGGCCTGG	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.323G>T	1.37:g.53535706G>T	ENSP00000308315:p.Gly108Val	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	299	7	NM_153703	0	0	0	0	0	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475725	0.12521	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.60299	0.88;0.2;0.99	4.22	-3.03	0.05429	.	1.911950	0.02272	N	0.068519	T	0.34164	0.0888	N	0.08118	0	0.09310	N	1	B;B;B	0.21452	0.056;0.0;0.0	B;B;B	0.24541	0.054;0.002;0.002	T	0.10109	-1.0644	10	0.23891	T	0.37	.	4.8783	0.13667	0.184:0.0:0.2484:0.5676	.	108;89;108	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	V	89;108;108	ENSP00000360555:G89V;ENSP00000379212:G108V;ENSP00000308315:G108V	ENSP00000308315:G108V	G	+	2	0	PODN	53308294	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.336000	0.07863	-0.927000	0.03766	-0.714000	0.03626	GGG	.		0.682	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535706	G	T	53535706	3	4	62	1	0	0	0	0	1	0	0	0	12217	1232	43	3	329	3	PODN	1	53535706	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	377175	53535706	195714915	75	12443											
LRRC42	115353	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	54423901	54423902	+	Frame_Shift_Ins	INS	-	-	T													ggatctttcctgttgcaagcINSttggagatgagcatgaactt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:54423901_54423902insT	ENST00000371370.3	+	4	1074_1075	c.553_554insT	c.(553-555)cttfs	p.L185fs	LRRC42_ENST00000319223.4_Frame_Shift_Ins_p.L185fs	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	185										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGTTGCAAGCTTGGAGATGAG	0.45																																					p.L185fs		.											.	LRRC42-90	0			c.553_554insT						.																																			SO:0001589	frameshift_variant	115353	exon4			TGCAAGCTTGGAG	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.555dupT	1.37:g.54423903_54423903dupT	ENSP00000360421:p.Leu185fs	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	167	52	NM_001256409	0	0	0	0	0	D3DQ46|Q8N2Q8	Frame_Shift_Ins	INS	ENST00000371370.3	37	CCDS585.1																																																																																			.		0.45	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		T	54423902	-	T	54423901	7	5	62	1	0	1	1	0	0	0	0	0	9035	797	28	0	559	0	LRRC42	1	54423901	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	888195	54423901	194826720	76	12444											
TACSTD2	4070	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	59042424	59042424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtcgcccttgtccgtGcggcgcacgcccaccgagtt	12	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:59042424G>A	ENST00000371225.2	-	1	742	c.405C>T	c.(403-405)cgC>cgT	p.R135R		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	135	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CCTTGTCCGTGCGGCGCACGC	0.697																																					p.R135R		.											.	TACSTD2-90	0			c.C405T						.						27	22	24					1																	59042424		2200	4298	6498	SO:0001819	synonymous_variant	4070	exon1			GTCCGTGCGGCGC	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.405C>T	1.37:g.59042424G>A		Somatic	34	1		WXS	Illumina GAIIx	Phase_I	141	67	NM_002353	0	0	1	1	0	Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	CCDS609.1																																																																																			.		0.697	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		A	59042424	G	A	59042424	2	1	62	1	0	0	0	0	0	0	0	1	15555	1306	46	3		3	TACSTD2	1	59042424	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4618523	59042424	190208197	77	12445											
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	60312772	60312772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaacttgaaaagcagCtaatcgaattccagcatagg	10	7	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:60312772C>T	ENST00000371208.3	+	10	1101	c.844C>T	c.(844-846)Cta>Tta	p.L282L	HOOK1_ENST00000395561.2_Silent_p.L240L|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	282	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGAAAAGCAGCTAATCGAATT	0.353																																					p.L282L		.											.	HOOK1-154	0			c.C844T						.						114	119	117					1																	60312772		2203	4299	6502	SO:0001819	synonymous_variant	51361	exon10			AAGCAGCTAATCG	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.844C>T	1.37:g.60312772C>T		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	139	58	NM_015888	0	0	3	3	0	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	CCDS612.1																																																																																			.		0.353	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		T	60312772	C	T	60312772	2	4	62	1	0	0	0	0	0	0	0	1	7309	796	28	3		3	HOOK1	1	60312772	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1270348	60312772	188937849	78	12446											
ATG4C	84938	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	63282309	63282309	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacgtaattgcaggaaAtgtagaagaatttcgtaaag	11	4	1	2	rs11545528		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:63282309A>T	ENST00000317868.4	+	4	431	c.224A>T	c.(223-225)aAt>aTt	p.N75I	ATG4C_ENST00000371120.3_Missense_Mutation_p.N75I	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	75					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTGCAGGAAATGTAGAAGAA	0.383																																					p.N75I		.											.	ATG4C-91	0			c.A224T						.						74	73	73					1																	63282309		2203	4300	6503	SO:0001583	missense	84938	exon4			CAGGAAATGTAGA	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.224A>T	1.37:g.63282309A>T	ENSP00000322159:p.Asn75Ile	Somatic	90	1		WXS	Illumina GAIIx	Phase_I	103	42	NM_178221	0	0	6	10	4	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.202858	0.58234	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.31	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.76574	2.34	0.58432	D	0.999997	P	0.43352	0.804	P	0.49887	0.625	T	0.17930	-1.0353	10	0.19590	T	0.45	-22.5309	9.4386	0.38655	0.7952:0.0:0.2048:0.0	.	75	Q96DT6	ATG4C_HUMAN	I	75	ENSP00000322159:N75I;ENSP00000360161:N75I;ENSP00000396614:N75I;ENSP00000360159:N75I	ENSP00000322159:N75I	N	+	2	0	ATG4C	63054897	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.006000	0.63978	0.087000	0.17167	-0.250000	0.11733	AAT	A|0.999;G|0.000		0.383	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		T	63282309	A	T	63282309	3	4	62	1	0	0	0	0	1	0	0	0	1099	101	4	5	234	5	ATG4C	1	63282309	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2969537	63282309	185968312	79	12447											
EFCAB7	84455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	63999139	63999139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagttttgtaaattataTatgacaaccaacgagcaatg	7	6	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:63999139T>C	ENST00000371088.4	+	5	747	c.501T>C	c.(499-501)taT>taC	p.Y167Y		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	167	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GTAAATTATATATGACAACCA	0.398																																					p.Y167Y		.											.	EFCAB7-68	0			c.T501C						.						64	67	66					1																	63999139		2203	4299	6502	SO:0001819	synonymous_variant	84455	exon5			ATTATATATGACA	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.501T>C	1.37:g.63999139T>C		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	62	30	NM_032437	0	0	6	16	10	Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	CCDS30737.1																																																																																			.		0.398	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		C	63999139	T	C	63999139	2	2	62	1	0	0	0	0	0	0	0	1	4954	1413	49	4		4	EFCAB7	1	63999139	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	716830	63999139	185251482	80	12448											
DIRAS3	9077	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	68512838	68512838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgtacttttccccAcaccagcggtgccgactacc	9	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:68512838A>G	ENST00000370981.1	-	4	779	c.143T>C	c.(142-144)gTg>gCg	p.V48A	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.V48A|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	48					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTTTTCCCCACACCAGCGGT	0.597																																					p.V48A		.											.	DIRAS3-848	0			c.T143C						.						93	95	94					1																	68512838		2203	4300	6503	SO:0001583	missense	9077	exon2			TTCCCCACACCAG	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.143T>C	1.37:g.68512838A>G	ENSP00000360020:p.Val48Ala	Somatic	215	1		WXS	Illumina GAIIx	Phase_I	204	82	NM_004675	0	0	8	9	1	B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578956	0.65878	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.82711	-1.64;-1.64	4.1	4.1	0.47936	Small GTP-binding protein domain (1);	.	.	.	.	D	0.91965	0.7455	H	0.95712	3.71	0.54753	D	0.999983	D	0.69078	0.997	D	0.72075	0.976	D	0.94001	0.7275	9	0.87932	D	0	.	13.0691	0.59050	1.0:0.0:0.0:0.0	.	48	O95661	DIRA3_HUMAN	A	48	ENSP00000360020:V48A;ENSP00000378627:V48A	ENSP00000360020:V48A	V	-	2	0	DIRAS3	68285426	1.000000	0.71417	0.391000	0.26233	0.143000	0.21401	6.432000	0.73400	1.621000	0.50320	0.460000	0.39030	GTG	.		0.597	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		G	68512838	A	G	68512838	3	3	62	1	0	0	0	0	1	0	0	0	4546	159	6	4	550	4	DIRAS3	1	68512838	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4513699	68512838	180737783	81	12449											
ZNF326	284695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	90486370	90486370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttactgtagatgatcaCatgatgaaggtagagacagt	13	4	1	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:90486370C>T	ENST00000340281.4	+	10	1337	c.1194C>T	c.(1192-1194)caC>caT	p.H398H	ZNF326_ENST00000455342.2_Silent_p.H192H|ZNF326_ENST00000370447.3_Silent_p.H309H	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	398					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAGATGATCACATGATGAAGG	0.338																																					p.H398H		.											.	ZNF326-91	0			c.C1194T						.						148	146	147					1																	90486370		2203	4300	6503	SO:0001819	synonymous_variant	284695	exon10			TGATCACATGATG	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1194C>T	1.37:g.90486370C>T		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	167	60	NM_182976	0	0	26	44	18	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	CCDS727.1																																																																																			.		0.338	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		T	90486370	C	T	90486370	2	4	62	1	0	0	0	0	0	0	0	1	17894	477	17	3		3	ZNF326	1	90486370	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	21973532	90486370	158764251	82	12450											
HFM1	164045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	91790300	91790300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcaaatgtaatataatAccaagccatcaatcttcctg	4	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:91790300A>G	ENST00000370425.3	-	21	2457	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Y19H|HFM1_ENST00000370424.3_Missense_Mutation_p.Y466H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	787	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)		GTAATATAATACCAAGCCATC	0.308																																					p.Y787H		.											.	HFM1-112	0			c.T2359C						.						43	47	45					1																	91790300		2200	4299	6499	SO:0001583	missense	164045	exon21			TATAATACCAAGC	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.2359T>C	1.37:g.91790300A>G	ENSP00000359454:p.Tyr787His	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	180	83	NM_001017975	0	0	0	1	1	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520889	0.85495	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.76968	-1.06;-1.06;-1.06	5.43	5.43	0.79202	Sec63 domain (2);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.75264	2.295	0.51482	D	0.999924	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.914;0.999;0.996	D	0.86253	0.1650	10	0.52906	T	0.07	.	15.478	0.75501	1.0:0.0:0.0:0.0	.	466;42;787	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	H	787;19;466;471	ENSP00000359454:Y787H;ENSP00000294696:Y19H;ENSP00000359453:Y466H	ENSP00000294696:Y19H	Y	-	1	0	HFM1	91562888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.237000	0.95368	2.066000	0.61787	0.455000	0.32223	TAT	.		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		G	91790300	A	G	91790300	3	3	62	1	0	0	0	0	1	0	0	0	7110	391	14	4	2024	4	HFM1	1	91790300	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1303930	91790300	157460321	83	12451											
TGFBR3	7049	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	92200429	92200429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcccaatttaacagatgttCatttccatgggggaagttcc	10	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:92200429C>T	ENST00000525962.1	-	4	533	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TGFBR3_ENST00000212355.4_Missense_Mutation_p.E158K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E158K|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	158					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACAGATGTTCATTTCCATGG	0.423																																					p.E158K		.											.	TGFBR3-93	0			c.G472A						.						174	175	175					1																	92200429		2203	4300	6503	SO:0001583	missense	7049	exon5			GATGTTCATTTCC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.472G>A	1.37:g.92200429C>T	ENSP00000436127:p.Glu158Lys	Somatic	117	2		WXS	Illumina GAIIx	Phase_I	98	23	NM_001195683	0	0	129	202	73	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600751	0.66332	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.88	4.02	0.46733	.	0.467858	0.27181	N	0.020552	T	0.25044	0.0608	M	0.61703	1.905	0.48696	D	0.999694	P;P	0.48294	0.617;0.908	B;P	0.46585	0.242;0.521	T	0.02743	-1.1116	10	0.29301	T	0.29	-6.9393	10.6494	0.45638	0.0:0.7964:0.0:0.2036	.	158;158	Q03167-2;Q03167	.;TGBR3_HUMAN	K	158	ENSP00000212355:E158K;ENSP00000359426:E158K;ENSP00000436127:E158K;ENSP00000432638:E158K	ENSP00000212355:E158K	E	-	1	0	TGFBR3	91973017	0.964000	0.33143	0.987000	0.45799	0.994000	0.84299	2.012000	0.40932	0.840000	0.34995	0.644000	0.83932	GAA	.		0.423	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92200429	C	T	92200429	3	4	62	1	0	0	0	0	1	0	0	0	15870	835	29	3	2135	3	TGFBR3	1	92200429	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	410129	92200429	157050192	84	12452											
DPYD	1806	hgsc.bcm.edu;bcgsc.ca	37	chr1	98165042	98165043	+	Frame_Shift_Ins	INS	-	-	T													tgcagaataggcttcagacaINSttttttctgggggaggcagc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:98165042_98165043insT	ENST00000370192.3	-	6	644_645	c.544_545insA	c.(544-546)atgfs	p.M182fs	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	182					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCTTCAGACATTTTTTCTGGG	0.426																																					p.M182fs		.											.	DPYD-278	0			c.545_546insA	GRCh37	CM035640	DPYD	M		.																																			SO:0001589	frameshift_variant	1806	exon6			TCAGACATTTTTT	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.545dupA	1.37:g.98165048_98165048dupT	ENSP00000359211:p.Met182fs	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	102	41	NM_000110	0	0	0	0	0	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Frame_Shift_Ins	INS	ENST00000370192.3	37	CCDS30777.1																																																																																			.		0.426	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		T	98165043	-	T	98165042	7	5	62	1	0	1	1	0	0	0	0	0	4759	217	8	0	2604	0	DPYD	1	98165042	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	5964613	98165042	151085579	85	12453											
HIAT1	64645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100527406	100527406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaggtggtactttgctgtTatctctgtttctggggtttt	11	7	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:100527406T>C	ENST00000370152.3	+	5	523	c.387T>C	c.(385-387)gtT>gtC	p.V129V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	129					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTTTGCTGTTATCTCTGTTT	0.348																																					p.V129V		.											.	HIAT1-90	0			c.T387C						.						233	214	221					1																	100527406		2203	4300	6503	SO:0001819	synonymous_variant	64645	exon5			TGCTGTTATCTCT	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.387T>C	1.37:g.100527406T>C		Somatic	128	0		WXS	Illumina GAIIx	Phase_I	125	45	NM_033055	0	0	32	56	24	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	T	8.923	0.961592	0.18583	.	.	ENSG00000156875	ENST00000421661	.	.	.	5.3	1.71	0.24356	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17653	-1.0362	4	.	.	.	-19.0114	5.2596	0.15565	0.1206:0.2083:0.0:0.6711	.	.	.	.	H	68	.	.	Y	+	1	0	HIAT1	100299994	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	0.444000	0.21661	0.036000	0.15547	-0.256000	0.11100	TAT	.		0.348	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		C	100527406	T	C	100527406	2	2	62	1	0	0	0	0	0	0	0	1	7124	1741	61	4		4	HIAT1	1	100527406	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2362364	100527406	148723215	86	12454											
SASS6	163786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	100586978	100586978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatttctttatctccaCatcatttccaggtaaaagtt	5	8	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:100586978C>T	ENST00000287482.5	-	5	579	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_De_novo_Start_InFrame	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	147					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)		TTTATCTCCACATCATTTCCA	0.313																																					p.V147M		.											.	SASS6-70	0			c.G439A						.						65	67	66					1																	100586978		2202	4300	6502	SO:0001583	missense	163786	exon5			TCTCCACATCATT	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.439G>A	1.37:g.100586978C>T	ENSP00000287482:p.Val147Met	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	53	23	NM_194292	0	0	4	6	2	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005749	0.35415	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.32988	1.43	5.61	2.7	0.31948	.	0.578378	0.18273	N	0.146261	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.17722	0.019	T	0.10086	-1.0645	10	0.48119	T	0.1	-3.8036	5.9814	0.19409	0.1299:0.5609:0.0:0.3092	.	147	Q6UVJ0	SAS6_HUMAN	M	147;120	ENSP00000287482:V147M	ENSP00000287482:V147M	V	-	1	0	SASS6	100359566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.670000	0.25157	0.845000	0.35118	0.655000	0.94253	GTG	.		0.313	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		T	100586978	C	T	100586978	3	4	62	1	0	0	0	0	1	0	0	0	13895	478	17	3	1586	3	SASS6	1	100586978	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	59572	100586978	148663643	87	12455											
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	108298065	108298065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaattctctatagatAgctgaaactgtttaatttca	4	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:108298065A>C	ENST00000370056.4	-	12	1431	c.1157T>G	c.(1156-1158)cTa>cGa	p.L386R	VAV3_ENST00000527011.1_Missense_Mutation_p.L386R|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.L321R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	386					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)		CTCTATAGATAGCTGAAACTG	0.363																																					p.L386R		.											.	VAV3-1339	0			c.T1157G						.						79	78	78					1																	108298065		2203	4300	6503	SO:0001583	missense	10451	exon12			ATAGATAGCTGAA	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.1157T>G	1.37:g.108298065A>C	ENSP00000359073:p.Leu386Arg	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	69	19	NM_006113	0	0	1	1	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.093|7.093	0.572582|0.572582	0.13623|0.13623	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Dbl homology (DH) domain (2);|.	0.305457|.	0.32120|.	N|.	0.006549|.	T|T	0.30103|0.30103	0.0754|0.0754	N|N	0.22421|0.22421	0.69|0.69	0.40033|0.40033	D|D	0.975551|0.975551	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.20042|0.20042	-1.0287|-1.0287	10|5	0.15952|.	T|.	0.53|.	.|.	10.9349|10.9349	0.47239|0.47239	0.9273:0.0:0.0727:0.0|0.9273:0.0:0.0727:0.0	.|.	386;386;321;386|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	R|D	386;386;321|381	ENSP00000359073:L386R;ENSP00000432540:L386R;ENSP00000360912:L321R|.	ENSP00000359073:L386R|.	L|Y	-|-	2|1	0|0	VAV3|VAV3	108099588|108099588	0.942000|0.942000	0.31987|0.31987	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.530000|1.530000	0.36007|0.36007	2.134000|2.134000	0.65973|0.65973	0.533000|0.533000	0.62120|0.62120	CTA|TAT	.		0.363	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		C	108298065	A	C	108298065	3	2	62	1	0	0	0	0	1	0	0	0	17182	420	15	5	1475	5	VAV3	1	108298065	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	7711087	108298065	140952556	88	12456											
C1orf59	113802	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	109197353	109197353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacaattcaatacacgttAtcaagtcaaatccaagcaaa	3	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109197353A>G	ENST00000370032.5	-	5	803	c.383T>C	c.(382-384)aTa>aCa	p.I128T	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.I128T|HENMT1_ENST00000370031.1_Missense_Mutation_p.I128T	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	128					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AATACACGTTATCAAGTCAAA	0.373																																					p.I128T		.											.	HENMT1-93	0			c.T383C						.						82	75	77					1																	109197353		2203	4300	6503	SO:0001583	missense	113802	exon5			CACGTTATCAAGT		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.383T>C	1.37:g.109197353A>G	ENSP00000359049:p.Ile128Thr	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	209	95	NM_144584	0	0	3	7	4	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584106	0.65992	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.1	3.98	0.46160	.	0.371267	0.31210	N	0.008058	T	0.60958	0.2309	M	0.81682	2.555	0.43347	D	0.995407	D	0.53619	0.961	P	0.55749	0.783	T	0.67241	-0.5720	10	0.72032	D	0.01	.	10.6843	0.45833	0.923:0.0:0.077:0.0	.	128	Q5T8I9	HENMT_HUMAN	T	128	ENSP00000385655:I128T;ENSP00000359048:I128T;ENSP00000359049:I128T;ENSP00000403953:I128T	ENSP00000359048:I128T	I	-	2	0	HENMT1	108998876	1.000000	0.71417	0.691000	0.30163	0.910000	0.53928	5.957000	0.70323	0.894000	0.36317	0.528000	0.53228	ATA	.		0.373	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		G	109197353	A	G	109197353	3	3	62	1	0	0	0	0	1	0	0	0	2058	449	16	4	814	4	C1orf59	1	109197353	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	899288	109197353	140053268	89	12457											
AKNAD1	254268	hgsc.bcm.edu	37	chr1	109369885	109369886	+	Frame_Shift_Ins	INS	-	-	T													caattgaaaatcttccacagINSttgatccttccgtggccctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109369885_109369886insT	ENST00000370001.3	-	11	2145_2146	c.1877_1878insA	c.(1876-1878)aacfs	p.N626fs	AKNAD1_ENST00000357393.4_Frame_Shift_Ins_p.N333fs|AKNAD1_ENST00000369995.3_Frame_Shift_Ins_p.N626fs|AKNAD1_ENST00000369994.1_Frame_Shift_Ins_p.N596fs	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	626						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATCTTCCACAGTTGATCCTTCC	0.421																																					p.N626fs		.											.	AKNAD1-93	0			c.1878_1879insA						.																																			SO:0001589	frameshift_variant	254268	exon11			TCCACAGTTGATC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1878dupA	1.37:g.109369887_109369887dupT	ENSP00000359018:p.Asn626fs	Somatic	93	2		WXS	Illumina GAIIx	Phase_I	96	38	NM_152763	0	0	0	0	0	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Frame_Shift_Ins	INS	ENST00000370001.3	37	CCDS791.2																																																																																			.		0.421	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		T	109369886	-	T	109369885	7	5	62	1	0	1	1	0	0	0	0	0	464	1020	36	0	656	0	AKNAD1	1	109369885	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	172532	109369885	139880736	90	12458											
KIAA1324	57535	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	109740206	109740206	+	Frame_Shift_Del	DEL	C	C	-													gtctgccaggcagtcatcatCcccccagaggtgacaggcta							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109740206delC	ENST00000369939.3	+	16	2415	c.2232delC	c.(2230-2232)atcfs	p.I744fs	KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.I657fs|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	744					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)		CAGTCATCATCCCCCCAGAGG	0.552																																					p.I744fs		.											.	KIAA1324-157	0			c.2232delC						.						63	57	59					1																	109740206		2203	4300	6503	SO:0001589	frameshift_variant	57535	exon16			CATCATCCCCCCA	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.2232delC	1.37:g.109740206delC	ENSP00000358955:p.Ile744fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	102	49	NM_020775	0	0	0	0	0	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	CCDS794.1																																																																																			.		0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		-	109740206	C	-	109740206	7	5	62	1	0	1	0	1	0	0	0	0	8250	845	30	0	2294	0	KIAA1324	1	109740206	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	370321	109740206	139510415	91	12459											
CELSR2	1952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	109793092	109793092	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccacagggcaagctcacaCtgcccgaggagcacccgtgc	11	18	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109793092C>G	ENST00000271332.3	+	1	452	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	131					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)		CAAGCTCACACTGCCCGAGGA	0.652																																					p.L131V	NSCLC(158;1285 2011 34800 34852 42084)	.											.	CELSR2-526	0			c.C391G						.						59	63	61					1																	109793092		2203	4300	6503	SO:0001583	missense	1952	exon1			CTCACACTGCCCG	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.391C>G	1.37:g.109793092C>G	ENSP00000271332:p.Leu131Val	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	128	57	NM_001408	0	0	1	2	1	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.493843	0.26774	.	.	ENSG00000143126	ENST00000271332	T	0.68181	-0.31	5.49	2.46	0.29980	.	.	.	.	.	T	0.13286	0.0322	N	0.08118	0	0.23309	N	0.997933	P	0.45044	0.849	B	0.33846	0.171	T	0.26710	-1.0095	9	0.05351	T	0.99	.	7.1469	0.25587	0.1392:0.7129:0.0:0.1479	.	131	Q9HCU4	CELR2_HUMAN	V	131	ENSP00000271332:L131V	ENSP00000271332:L131V	L	+	1	2	CELSR2	109594615	0.069000	0.21087	0.956000	0.39512	0.664000	0.39144	0.391000	0.20784	0.704000	0.31869	0.555000	0.69702	CTG	.		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		G	109793092	C	G	109793092	3	3	62	1	0	0	0	0	1	0	0	0	3229	564	20	3	393	3	CELSR2	1	109793092	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	52886	109793092	139457529	92	12460											
GPR61	83873	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	110085867	110085867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacgcctgccctccgaAaatttgtcttcgtcttccac	6	16	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110085867A>G	ENST00000527748.1	+	2	906	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTCCGAAAATTTGTCTT	0.607																																					p.K75E		.											.	GPR61-91	0			c.A223G						.						158	149	152					1																	110085867		2203	4300	6503	SO:0001583	missense	83873	exon2			CTCCGAAAATTTG	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.223A>G	1.37:g.110085867A>G	ENSP00000432456:p.Lys75Glu	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	219	16	NM_031936	0	0	0	0	0	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708651	0.68615	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.38077	1.16	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.59436	1.845	0.48087	D	0.999588	D	0.89917	1.0	D	0.77557	0.99	T	0.52779	-0.8530	10	0.72032	D	0.01	-18.8226	15.2009	0.73136	1.0:0.0:0.0:0.0	.	75	Q9BZJ8	GPR61_HUMAN	E	75;203	ENSP00000432456:K75E	ENSP00000286603:K203E	K	+	1	0	GPR61	109887390	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.332000	0.96446	2.060000	0.61445	0.533000	0.62120	AAA	.		0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			G	110085867	A	G	110085867	3	3	62	1	0	0	0	0	1	0	0	0	6728	15	1	4	225	4	GPR61	1	110085867	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	292775	110085867	139164754	93	12461											
GNAT2	2780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110148988	110148988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccgtggttttgactcTggatcggagcacatcttgct	12	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110148988T>C	ENST00000351050.3	-	5	718	c.532A>G	c.(532-534)Aga>Gga	p.R178G		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTTTTGACTCTGGATCGGAGC	0.453																																					p.R178G		.											.	GNAT2-227	0			c.A532G						.						158	143	148					1																	110148988		2203	4300	6503	SO:0001583	missense	2780	exon5			TGACTCTGGATCG	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.532A>G	1.37:g.110148988T>C	ENSP00000251337:p.Arg178Gly	Somatic	214	1		WXS	Illumina GAIIx	Phase_I	286	102	NM_005272	0	0	1	1	0		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351647	0.82132	.	.	ENSG00000134183	ENST00000351050	T	0.65916	-0.18	5.19	3.99	0.46301	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	H	0.97540	4.025	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	D	0.86588	0.1858	10	0.87932	D	0	.	11.5375	0.50645	0.0:0.0:0.2078:0.7922	.	178	P19087	GNAT2_HUMAN	G	178	ENSP00000251337:R178G	ENSP00000251337:R178G	R	-	1	2	GNAT2	109950511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.849000	0.55910	2.311000	0.77944	0.533000	0.62120	AGA	.		0.453	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		C	110148988	T	C	110148988	3	2	62	1	0	0	0	0	1	0	0	0	6538	1588	55	4	548	4	GNAT2	1	110148988	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	63121	110148988	139101633	94	12462											
ALX3	257	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	110607490	110607490	+	Frame_Shift_Del	DEL	G	G	-													tcggcagtccaagggcagctGggggaagctggcagctttgg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110607490delG	ENST00000369792.4	-	2	400	c.313delC	c.(313-315)cagfs	p.Q105fs	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	105					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGGCAGCTGGGGGAAGCTG	0.612																																					p.Q105fs		.											.	ALX3-90	0			c.313delC						.						22	28	26					1																	110607490		2188	4293	6481	SO:0001589	frameshift_variant	257	exon2			GCAGCTGGGGGAA	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.313delC	1.37:g.110607490delG	ENSP00000358807:p.Gln105fs	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	68	26	NM_006492	0	0	0	0	0	O95075|Q5T8M4	Frame_Shift_Del	DEL	ENST00000369792.4	37	CCDS819.1																																																																																			.		0.612	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		-	110607490	G	-	110607490	7	5	62	1	0	1	0	1	0	0	0	0	557	1357	47	0	730	0	ALX3	1	110607490	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	458502	110607490	138643131	95	12463											
C1orf88	128344	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	111890299	111890299	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatataccacccaaagggaTatggcttggcatacgactta	8	9	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:111890299T>A	ENST00000369738.4	+	3	528	c.163T>A	c.(163-165)Tat>Aat	p.Y55N	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Intron	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	55					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										CCCAAAGGGATATGGCTTGGC	0.363																																					p.Y55N		.											.	.	0			c.T163A						.						86	83	84					1																	111890299		2203	4300	6503	SO:0001583	missense	128344	exon3			AAGGGATATGGCT	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"chromosome 1 open reading frame 88"	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.163T>A	1.37:g.111890299T>A	ENSP00000358753:p.Tyr55Asn	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	68	28	NM_181643	0	0	0	0	0	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848794	0.17034	.	.	ENSG00000173947	ENST00000369738	T	0.21734	1.99	5.5	-2.78	0.05859	.	1.252710	0.05568	N	0.570527	T	0.04092	0.0114	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.40213	-0.9575	10	0.20046	T	0.44	-0.1997	3.4263	0.07412	0.4362:0.2535:0.0:0.3103	.	55	Q8TCI5	PIFO_HUMAN	N	55	ENSP00000358753:Y55N	ENSP00000358753:Y55N	Y	+	1	0	C1orf88	111691822	0.222000	0.23652	0.007000	0.13788	0.030000	0.12068	0.277000	0.18734	-0.113000	0.11958	-0.516000	0.04426	TAT	.		0.363	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		A	111890299	T	A	111890299	3	1	62	1	0	0	0	0	1	0	0	0	2072	1406	49	5	173	5	C1orf88	1	111890299	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1282809	111890299	137360322	96	12464											
LRIG2	9860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	113666622	113666622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctggcagggagagagCcagactgttctgcttcttcc	14	11	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:113666622C>T	ENST00000361127.5	+	18	3295	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1033					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGGGAGAGAGCCAGACTGTTC	0.493																																					p.P1033S		.											.	LRIG2-229	0			c.C3097T						.						123	105	111					1																	113666622		2203	4300	6503	SO:0001583	missense	9860	exon18			AGAGAGCCAGACT	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3097C>T	1.37:g.113666622C>T	ENSP00000355396:p.Pro1033Ser	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	128	45	NM_014813	0	0	0	1	1	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145218	0.06627	.	.	ENSG00000198799	ENST00000361127	T	0.60040	0.22	5.58	3.56	0.40772	.	0.462268	0.20244	N	0.096233	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.25012	-1.0144	10	0.09843	T	0.71	.	17.3092	0.87204	0.0:0.6523:0.3477:0.0	.	1033	O94898	LRIG2_HUMAN	S	1033	ENSP00000355396:P1033S	ENSP00000355396:P1033S	P	+	1	0	LRIG2	113468145	0.015000	0.18098	0.473000	0.27253	0.023000	0.10783	0.233000	0.17911	1.326000	0.45319	0.650000	0.86243	CCA	.		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113666622	C	T	113666622	3	4	62	1	0	0	0	0	1	0	0	0	8980	739	26	3	3167	3	LRIG2	1	113666622	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1776323	113666622	135583999	97	12465											
MAGI3	260425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	114189207	114189207	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcattatcaggtcaggatccCcaaaattggatccttctgag	9	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:114189207C>G	ENST00000307546.9	+	12	2173	c.2098C>G	c.(2098-2100)Cca>Gca	p.P700A	MAGI3_ENST00000369615.1_Missense_Mutation_p.P700A|MAGI3_ENST00000369617.4_Missense_Mutation_p.P725A|MAGI3_ENST00000369611.4_Missense_Mutation_p.P700A	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	725					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCAGGATCCCCAAAATTGGA	0.388																																					p.P700A		.											.	MAGI3-524	0			c.C2098G						.						104	103	104					1																	114189207		2203	4300	6503	SO:0001583	missense	260425	exon12			GGATCCCCAAAAT	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2098C>G	1.37:g.114189207C>G	ENSP00000304604:p.Pro700Ala	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	210	93	NM_152900	0	0	0	2	2	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192164	0.58017	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.39	5.39	0.77823	.	0.055360	0.64402	D	0.000001	T	0.50463	0.1617	L	0.61218	1.895	0.80722	D	1	D;D;B	0.71674	0.998;0.989;0.178	D;P;B	0.65987	0.94;0.879;0.155	T	0.50074	-0.8870	10	0.54805	T	0.06	-31.623	19.1481	0.93476	0.0:1.0:0.0:0.0	.	700;700;725	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	A	725;700;700;700	ENSP00000358630:P725A;ENSP00000304604:P700A;ENSP00000358628:P700A;ENSP00000358624:P700A	ENSP00000304604:P700A	P	+	1	0	MAGI3	113990730	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	5.329000	0.65892	2.521000	0.84997	0.563000	0.77884	CCA	.		0.388	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		G	114189207	C	G	114189207	3	3	62	1	0	0	0	0	1	0	0	0	9230	623	22	3	2144	3	MAGI3	1	114189207	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	522585	114189207	135061414	98	12466											
HIPK1	204851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	114506014	114506014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatctacgtttcagggaagCtgtacaccactaatggtagc	9	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:114506014C>T	ENST00000369558.1	+	10	2341	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	HIPK1_ENST00000369553.1_Silent_p.S309S|HIPK1_ENST00000369561.4_Silent_p.S669S|HIPK1_ENST00000369559.4_Silent_p.S703S|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000426820.2_Silent_p.S703S|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000406344.1_Silent_p.S309S|HIPK1_ENST00000340480.4_Silent_p.S329S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	703					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGGGAAGCTGTACACCAC	0.532																																					p.S703S		.											.	HIPK1-361	0			c.C2109T						.						80	75	77					1																	114506014		2203	4300	6503	SO:0001819	synonymous_variant	204851	exon10			GGGAAGCTGTACA	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2109C>T	1.37:g.114506014C>T		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	176	70	NM_152696	0	0	0	0	0	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1																																																																																			.		0.532	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		T	114506014	C	T	114506014	2	4	62	1	0	0	0	0	0	0	0	1	7143	796	28	3		3	HIPK1	1	114506014	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	316807	114506014	134744607	99	12467											
WARS2	10352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	119683258	119683258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgctttccgcattgagtGcagcgccatcttgagaaggg	13	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:119683258G>A	ENST00000235521.4	-	1	36	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	RP11-418J17.1_ENST00000440150.1_RNA|RP11-418J17.1_ENST00000418015.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|RP11-418J17.1_ENST00000413531.1_RNA|WARS2_ENST00000497761.1_5'UTR|WARS2_ENST00000537870.1_5'Flank|WARS2_ENST00000369426.5_Missense_Mutation_p.H4Y|RP11-418J17.1_ENST00000425884.1_RNA	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	4					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCATTGAGTGCAGCGCCATC	0.602																																					p.H4Y		.											.	WARS2-90	0			c.C10T						.						36	37	36					1																	119683258		2203	4300	6503	SO:0001583	missense	10352	exon1			TTGAGTGCAGCGC	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.10C>T	1.37:g.119683258G>A	ENSP00000235521:p.His4Tyr	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	53	22	NM_015836	0	0	3	6	3	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258044	0.59321	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.41400	1.0;2.0	6.04	4.16	0.48862	.	0.689474	0.14950	N	0.288998	T	0.13030	0.0316	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.09465	-1.0673	10	0.06891	T	0.86	-0.127	8.6464	0.34007	0.1762:0.0:0.8238:0.0	.	4;4;4;4	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	Y	4	ENSP00000358434:H4Y;ENSP00000235521:H4Y	ENSP00000235521:H4Y	H	-	1	0	WARS2	119484781	0.937000	0.31787	0.736000	0.30914	0.935000	0.57460	1.422000	0.34826	0.869000	0.35703	0.561000	0.74099	CAC	.		0.602	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		A	119683258	G	A	119683258	3	1	62	1	0	0	0	0	1	0	0	0	17299	1319	46	3	1125	3	WARS2	1	119683258	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5177244	119683258	129567363	100	12468											
NOTCH2	4853	hgsc.bcm.edu	37	chr1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcgcgggggccgcGcagcacagccagagcgccag	15	16	1	1	rs11810554	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6	8	8					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_024408	0	0	1	1	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120611964	G	C	120611964	3	2	62	1	0	0	0	0	1	0	0	0	10587	1079	38	2	7494	2	NOTCH2	1	120611964	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	928706	120611964	128638657	101	12469											
PDE4DIP	9659	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctctaagttagtccttGccttctttaaaacatcatgt	4	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					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)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD																																p.A2328V		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C6983T						.						238	188	205					1																	144854181		2203	4298	6501	SO:0001583	missense	9659	exon43			GTCCTTGCCTTCT	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.6983C>T	1.37:g.144854181G>A	ENSP00000358360:p.Ala2328Val	Somatic	662	1		WXS	Illumina GAIIx	Phase_I	825	88	NM_014644	0	0	5	5	0	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	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA	.		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144854181	G	A	144854181	3	1	62	1	0	0	0	0	1	0	0	0	11682	1319	46	3	65	3	PDE4DIP	1	144854181	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	24242217	144854181	104396440	102	12470											
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	144871772	144871772	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accactggtgtctcacagcaGccaaggaggagagggccagt	14	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:144871772G>T	ENST00000369354.3	-	32	5379	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	PDE4DIP_ENST00000369356.4_Silent_p.G1730G|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Silent_p.G1866G|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.G1815G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1730					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)		TCTCACAGCAGCCAAGGAGGA	0.572			T	PDGFRB	MPD																																p.G1730G		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C5190A						.						115	116	116					1																	144871772		2203	4296	6499	SO:0001819	synonymous_variant	9659	exon32			ACAGCAGCCAAGG	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.5190C>A	1.37:g.144871772G>T		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	151	38	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			.		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144871772	G	T	144871772	2	4	62	1	0	0	0	0	0	0	0	1	11682	958	34	3		3	PDE4DIP	1	144871772	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17591	144871772	104378849	103	12471											
SEC22B	9554	broad.mit.edu;bcgsc.ca	37	chr1	145115843	145115843	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacttgcagcagtagctgTatttttcatcatgttaatag	7	7	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:145115843T>C	ENST00000453618.1	+	0	929							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCAGTAGCTGTATTTTTCATC	0.413																																					.		.											.	.	0			.						.						229	227	228					1																	145115843		2016	4189	6205			9554	.			TAGCTGTATTTTT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115843T>C		Somatic	207	0		WXS	Illumina GAIIx	Phase_I	282	21	.	0	0	159	159	0	A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																				.		0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		C	145115843	T	C	145115843	1	2	62	0	1	0	0	0	0	0	0	0	14034	1638	57	4		4	SEC22B	1	145115843	RNA	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	244071	145115843	104134778	104	12472											
PIAS3	10401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	145579296	145579296	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattattttccccccaacctCtttgtcaaggtcaatgggaa	7	11	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:145579296C>T	ENST00000393045.2	+	5	723	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PIAS3_ENST00000369299.3_Silent_p.L202L|PIAS3_ENST00000369298.1_Silent_p.L176L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	211	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCAACCTCTTTGTCAAGG	0.453																																					p.L211L		.											.	PIAS3-658	0			c.C633T						.						119	115	117					1																	145579296		2203	4300	6503	SO:0001819	synonymous_variant	10401	exon5			CAACCTCTTTGTC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.633C>T	1.37:g.145579296C>T		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	52	27	NM_006099	0	0	12	18	6	Q9UFI3	Silent	SNP	ENST00000393045.2	37	CCDS920.2																																																																																			.		0.453	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		T	145579296	C	T	145579296	2	4	62	1	0	0	0	0	0	0	0	1	11916	900	32	3		3	PIAS3	1	145579296	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	463453	145579296	103671325	105	12473											
ANP32E	81611	bcgsc.ca	37	chr1	150195565	150195565	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcatcatcttcttcaTccttgaaattcaaatattca	2	10	8	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150195565T>A	ENST00000314136.8	-	6	1052	c.683A>T	c.(682-684)gAt>gTt	p.D228V	ANP32E_ENST00000369114.5_Splice_Site_p.D110V|ANP32E_ENST00000436748.2_Splice_Site_p.D187V|ANP32E_ENST00000369115.2_Splice_Site_p.D96V|ANP32E_ENST00000369119.3_Splice_Site_p.D180V|ANP32E_ENST00000369116.4_Splice_Site_p.D96V|ANP32E_ENST00000533654.1_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	228	Asp/Glu-rich (highly acidic).|ZID domain.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			atcttcttcatcctTGAAATT	0.303																																					p.D228V		.											.	ANP32E-90	0			c.A683T						.						36	33	34					1																	150195565		2060	3975	6035	SO:0001630	splice_region_variant	81611	exon6			TCTTCATCCTTGA	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.682-1A>T	1.37:g.150195565T>A		Somatic	154	4		WXS	Illumina GAIIx	Phase_I	136	52	NM_030920	0	0	0	0	0	B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391279	0.42410	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369114;ENST00000369115	T;T;T;T	0.25414	8.27;8.27;8.27;1.8	3.97	3.97	0.46021	.	0.285316	0.37304	N	0.002159	T	0.22513	0.0543	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.987;0.987	T	0.04946	-1.0916	10	0.72032	D	0.01	.	9.4201	0.38546	0.0:0.0:0.0:1.0	.	187;228;180	E9PEA6;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	V	228;180;96;187;60;110;96	ENSP00000324074:D228V;ENSP00000358115:D180V;ENSP00000393718:D187V;ENSP00000358110:D110V	ENSP00000324074:D228V	D	-	2	0	ANP32E	148462189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.569000	0.36428	1.788000	0.52465	0.377000	0.23210	GAT	.		0.303	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920	Missense_Mutation	A	150195565	T	A	150195565	5	1	62	1	0	0	0	0	0	0	1	0	709	1449	50	5	131	5	ANP32E	1	150195565	Splice_Site	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4616269	150195565	99055056	106	12474											
PRPF3	9129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150298336	150298336	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagaaaacgagagctAaaggtaggttacaatttact	11	5	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150298336A>G	ENST00000324862.6	+	3	438	c.273A>G	c.(271-273)ctA>ctG	p.L91L	PRPF3_ENST00000414970.2_Silent_p.L91L|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	91					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AACGAGAGCTAAAGGTAGGTT	0.448																																					p.L91L	Ovarian(168;1070 2670 5178 20729)	.											.	PRPF3-91	0			c.A273G						.						122	116	118					1																	150298336		2203	4300	6503	SO:0001819	synonymous_variant	9129	exon3			AGAGCTAAAGGTA	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.273A>G	1.37:g.150298336A>G		Somatic	190	0		WXS	Illumina GAIIx	Phase_I	176	63	NM_004698	0	0	0	0	0	B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	CCDS951.1																																																																																			.		0.448	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		G	150298336	A	G	150298336	2	3	62	1	0	0	0	0	0	0	0	1	12607	349	13	4		4	PRPF3	1	150298336	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	102771	150298336	98952285	107	12475											
GOLPH3L	55204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150636172	150636172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagattcgaccccgcatgGccagctctatcaggatgccc	10	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150636172G>A	ENST00000271732.3	-	3	295	c.251C>T	c.(250-252)gCc>gTc	p.A84V	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	84					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)			ACCCCGCATGGCCAGCTCTAT	0.498																																					p.A84V		.											.	GOLPH3L-91	0			c.C251T						.						91	87	88					1																	150636172		2203	4300	6503	SO:0001583	missense	55204	exon3			CGCATGGCCAGCT	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.251C>T	1.37:g.150636172G>A	ENSP00000271732:p.Ala84Val	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	130	56	NM_018178	0	0	9	19	10	B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664717	0.47572	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.61	5.61	0.85477	.	0.386685	0.23386	N	0.048744	T	0.46521	0.1397	M	0.75150	2.29	0.80722	D	1	D	0.63046	0.992	B	0.41174	0.349	T	0.58702	-0.7590	9	0.59425	D	0.04	-8.4399	11.6483	0.51273	0.0817:0.0:0.9183:0.0	.	84	Q9H4A5	GLP3L_HUMAN	V	84;106;106	.	ENSP00000271732:A84V	A	-	2	0	GOLPH3L	148902796	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.479000	0.81095	2.645000	0.89757	0.585000	0.79938	GCC	.		0.498	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		A	150636172	G	A	150636172	3	1	62	1	0	0	0	0	1	0	0	0	6595	1203	42	3	618	3	GOLPH3L	1	150636172	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	337836	150636172	98614449	108	12476											
GABPB2	126626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151065754	151065754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatcgagatgtcgtagaGttacttatcaaatatggagc	9	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151065754G>T	ENST00000368918.3	+	4	694	c.363G>T	c.(361-363)gaG>gaT	p.E121D	GABPB2_ENST00000368916.1_Missense_Mutation_p.E121D|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368917.1_Missense_Mutation_p.E121D	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	121					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ATGTCGTAGAGTTACTTATCA	0.433																																					p.E121D		.											.	GABPB2-90	0			c.G363T						.						154	145	148					1																	151065754		2203	4300	6503	SO:0001583	missense	126626	exon4			CGTAGAGTTACTT		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"Ankyrin repeat domain containing"	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.363G>T	1.37:g.151065754G>T	ENSP00000357914:p.Glu121Asp	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	123	52	NM_144618	0	0	8	15	7	B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	CCDS983.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470454	0.63625	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.66638	-0.22;-0.22;-0.22	5.17	3.28	0.37604	Ankyrin repeat-containing domain (4);	0.093907	0.64402	D	0.000001	T	0.60405	0.2266	N	0.26162	0.8	0.46167	D	0.998901	D;D;B;D	0.61080	0.972;0.972;0.068;0.989	D;D;B;P	0.70716	0.97;0.96;0.093;0.733	T	0.66866	-0.5815	10	0.72032	D	0.01	-4.7317	10.8538	0.46786	0.1574:0.0:0.8426:0.0	.	137;121;121;121	B4DXA3;Q5SZG2;B2R924;Q8TAK5	.;.;.;GABP2_HUMAN	D	121;121;137;121	ENSP00000357914:E121D;ENSP00000357913:E121D;ENSP00000357912:E121D	ENSP00000357912:E121D	E	+	3	2	GABPB2	149332378	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.068000	0.41471	1.427000	0.47276	0.561000	0.74099	GAG	.		0.433	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		T	151065754	G	T	151065754	3	4	62	1	0	0	0	0	1	0	0	0	6183	1020	36	3	373	3	GABPB2	1	151065754	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	429582	151065754	98184867	109	12477											
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151787534	151787534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcggtcaggggtcagctgGctgcctgtgctatagaagct	14	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151787534G>C	ENST00000318247.6	-	5	773	c.666C>G	c.(664-666)agC>agG	p.S222R	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.S201R|RORC_ENST00000392697.3_Missense_Mutation_p.S276R	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	222	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S222S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTCAGCTGGCTGCCTGTGC	0.607																																					p.S222R		.											.	RORC-227	1	Substitution - coding silent(1)	endometrium(1)	c.C666G						.						68	61	63					1																	151787534		2203	4300	6503	SO:0001583	missense	6097	exon5			CAGCTGGCTGCCT	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.666C>G	1.37:g.151787534G>C	ENSP00000327025:p.Ser222Arg	Somatic	240	0		WXS	Illumina GAIIx	Phase_I	306	146	NM_005060	0	0	0	0	0	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578906	0.28180	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94687	-3.45;-3.49;-3.47	5.43	5.43	0.79202	.	0.648626	0.14296	U	0.328638	D	0.89993	0.6876	L	0.56769	1.78	0.51482	D	0.999922	B;B;B;B	0.11235	0.0;0.004;0.0;0.0	B;B;B;B	0.15484	0.002;0.013;0.001;0.001	D	0.84699	0.0727	10	0.25106	T	0.35	.	16.7436	0.85466	0.0:0.0:1.0:0.0	.	222;276;222;201	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	R	201;276;222	ENSP00000349164:S201R;ENSP00000376461:S276R;ENSP00000327025:S222R	ENSP00000327025:S222R	S	-	3	2	RORC	150054158	0.999000	0.42202	1.000000	0.80357	0.907000	0.53573	2.784000	0.47774	2.532000	0.85374	0.563000	0.77884	AGC	.		0.607	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			C	151787534	G	C	151787534	3	2	62	1	0	0	0	0	1	0	0	0	13575	1194	42	3	918	3	RORC	1	151787534	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	721780	151787534	97463087	110	12478											
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151789189	151789189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaggcggcagtgctgGcatcggtttcggctggtgcg	17	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151789189G>A	ENST00000318247.6	-	4	356	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Silent_p.C62C|RORC_ENST00000392697.3_Silent_p.C137C	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	83					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCAGTGCTGGCATCGGTTTC	0.657																																					p.C83C		.											.	RORC-227	0			c.C249T						.						32	28	29					1																	151789189		2202	4300	6502	SO:0001819	synonymous_variant	6097	exon4			GTGCTGGCATCGG	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.249C>T	1.37:g.151789189G>A		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	188	95	NM_005060	0	0	0	0	0	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	CCDS1004.1																																																																																			.		0.657	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151789189	G	A	151789189	2	1	62	1	0	0	0	0	0	0	0	1	13575	1195	42	3		3	RORC	1	151789189	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1655	151789189	97461432	111	12479											
THEM4	117145	hgsc.bcm.edu	37	chr1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcctactggcggcAggcacagagcccccagcgtg	16	16	0	1	rs3748805	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1	1	1					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_053055	0	0	0	8	8	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		C	151881885	A	C	151881885	3	2	62	1	0	0	0	0	1	0	0	0	15905	188	7	5	696	5	THEM4	1	151881885	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	92696	151881885	97368736	112	12480											
IVL	3713	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	152883314	152883314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctgaagcacctggaGcagcaggaggggcagctgga	19	9	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:152883314G>A	ENST00000368764.3	+	2	1105	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	IVL_ENST00000392667.2_Silent_p.E201E			P07476	INVO_HUMAN	involucrin	347	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)			agcacctggagcagcaggagg	0.657																																					p.E347E		.											.	IVL-93	0			c.G1041A						.						15	14	14					1																	152883314		2132	4164	6296	SO:0001819	synonymous_variant	3713	exon2			CCTGGAGCAGCAG	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.1041G>A	1.37:g.152883314G>A		Somatic	208	1		WXS	Illumina GAIIx	Phase_I	248	103	NM_005547	0	0	0	0	0	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			.		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		A	152883314	G	A	152883314	2	1	62	1	0	0	0	0	0	0	0	1	7956	962	34	3		3	IVL	1	152883314	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1001429	152883314	96367307	113	12481											
LOR	4014	hgsc.bcm.edu	37	chr1	153233701	153233701	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgtcaagtactccggAggcggcggctcctccggcgg	18	13	1	0	rs1143390	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1	1	1					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		C	153233701	A	C	153233701	2	2	62	1	0	0	0	0	0	0	0	1	8932	291	11	5		5	LOR	1	153233701	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	350387	153233701	96016920	114	12482											
UBAP2L	9898	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	154224048	154224048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgggtcagagcctgTcctttctgattatgagtcca	11	9	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154224048T>C	ENST00000361546.2	+	13	1625	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A	UBAP2L_ENST00000428931.1_Missense_Mutation_p.V528A|UBAP2L_ENST00000271877.7_Missense_Mutation_p.V539A|UBAP2L_ENST00000343815.6_Missense_Mutation_p.V528A|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	528					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGAGCCTGTCCTTTCTGAT	0.527																																					p.V528A		.											.	UBAP2L-91	0			c.T1583C						.						128	123	125					1																	154224048		2203	4300	6503	SO:0001583	missense	9898	exon14			AGCCTGTCCTTTC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1583T>C	1.37:g.154224048T>C	ENSP00000355343:p.Val528Ala	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	72	22	NM_001127320	0	0	45	79	34	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752368	0.31046	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.11169	2.8;2.81;2.8;2.81	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.19112	0.55	0.58432	D	0.999999	D;P;D;D;D	0.61697	0.984;0.459;0.99;0.99;0.984	D;B;D;D;D	0.70935	0.935;0.259;0.971;0.971;0.956	T	0.35773	-0.9775	10	0.10902	T	0.67	-7.4611	14.5433	0.68011	0.0:0.0:0.0:1.0	.	442;539;521;528;528	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	A	528;528;24;24;539;528	ENSP00000345308:V528A;ENSP00000389445:V528A;ENSP00000271877:V539A;ENSP00000355343:V528A	ENSP00000271877:V539A	V	+	2	0	UBAP2L	152490672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.618000	0.61211	2.275000	0.75901	0.529000	0.55759	GTC	.		0.527	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		C	154224048	T	C	154224048	3	2	62	1	0	0	0	0	1	0	0	0	16887	1667	58	4	1633	4	UBAP2L	1	154224048	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	990347	154224048	95026573	115	12483											
UBAP2L	9898	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	154224069	154224069	+	Frame_Shift_Del	DEL	C	C	-													cctttctgattatgagtccaCccccaccacgagcgcctctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154224069delC	ENST00000361546.2	+	13	1646	c.1604delC	c.(1603-1605)accfs	p.T535fs	UBAP2L_ENST00000428931.1_Frame_Shift_Del_p.T535fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.T546fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.T535fs|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	535					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATGAGTCCACCCCCACCACG	0.522																																					p.T535fs		.											.	UBAP2L-91	0			c.1604delC						.						107	105	106					1																	154224069		2203	4300	6503	SO:0001589	frameshift_variant	9898	exon14			AGTCCACCCCCAC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1604delC	1.37:g.154224069delC	ENSP00000355343:p.Thr535fs	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	64	14	NM_001127320	0	0	0	0	0	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Frame_Shift_Del	DEL	ENST00000361546.2	37	CCDS1063.1																																																																																			.		0.522	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		-	154224069	C	-	154224069	7	5	62	1	0	1	0	1	0	0	0	0	16887	507	18	0	1654	0	UBAP2L	1	154224069	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	21	154224069	95026552	116	12484											
FLAD1	80308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	154962713	154962713	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgagctggaacagttTctacaggacactatcaagag	9	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154962713T>A	ENST00000292180.3	+	4	1666	c.1344T>A	c.(1342-1344)ttT>ttA	p.F448L	FLAD1_ENST00000368433.1_Missense_Mutation_p.F448L|FLAD1_ENST00000405236.2_Missense_Mutation_p.F300Y|FLAD1_ENST00000315144.10_Missense_Mutation_p.F351L|FLAD1_ENST00000368432.1_Missense_Mutation_p.F351L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Missense_Mutation_p.F132Y	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	448	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGAACAGTTTCTACAGGACA	0.527																																					p.F448L		.											.	FLAD1-93	0			c.T1344A						.						150	154	152					1																	154962713		2203	4300	6503	SO:0001583	missense	80308	exon4			ACAGTTTCTACAG		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1344T>A	1.37:g.154962713T>A	ENSP00000292180:p.Phe448Leu	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	155	65	NM_025207	0	0	40	51	11	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.390075|4.390075	0.82902|0.82902	.|.	.|.	ENSG00000160688|ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180|ENST00000405236;ENST00000295530	.|.	.|.	.|.	5.37|5.37	0.0512|0.0512	0.14296|0.14296	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.89904|0.89904	3.07|3.07	0.21220|0.21220	N|N	0.999759|0.999759	D|D	0.89917|0.63880	1.0|0.993	D|P	0.97110|0.56563	1.0|0.801	T|T	0.55192|0.55192	-0.8179|-0.8179	9|9	0.87932|0.87932	D|D	0|0	-16.7034|-16.7034	11.0701|11.0701	0.47997|0.47997	0.0:0.6031:0.0:0.3969|0.0:0.6031:0.0:0.3969	.|.	448|132	Q8NFF5|Q5T191	FAD1_HUMAN|.	L|Y	448;351;351;448|300;132	.|.	ENSP00000292180:F448L|ENSP00000295530:F132Y	F|F	+|+	3|2	2|0	FLAD1|FLAD1	153229337|153229337	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.968000|0.968000	0.65278|0.65278	0.368000|0.368000	0.20399|0.20399	-0.140000|-0.140000	0.11394|0.11394	0.533000|0.533000	0.62120|0.62120	TTT|TTC	.		0.527	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154962713	T	A	154962713	3	1	62	1	0	0	0	0	1	0	0	0	5942	1780	62	5	1498	5	FLAD1	1	154962713	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	738644	154962713	94287908	117	12485											
ASH1L	55870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155452085	155452085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaagaagagtagatggCgttgcattaatataatctgc	9	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:155452085C>T	ENST00000368346.3	-	3	1215	c.576G>A	c.(574-576)acG>acA	p.T192T	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.T192T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	192					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)			GAGTAGATGGCGTTGCATTAA	0.418																																					p.T192T		.											.	ASH1L-234	0			c.G576A						.						156	157	157					1																	155452085		2203	4300	6503	SO:0001819	synonymous_variant	55870	exon3			AGATGGCGTTGCA	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.576G>A	1.37:g.155452085C>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	95	38	NM_018489	0	0	4	10	6	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																				.		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		T	155452085	C	T	155452085	2	4	62	1	0	0	0	0	0	0	0	1	1042	755	27	1		1	ASH1L	1	155452085	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	489372	155452085	93798536	118	12486											
KIAA0907	22889	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	155885735	155885735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattccagtcactggaaagGctggtggaggcatcaactgc	12	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:155885735G>A	ENST00000368321.3	-	13	1597	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525V	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	525							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)			CACTGGAAAGGCTGGTGGAGG	0.413																																					p.A525V		.											.	KIAA0907-90	0			c.C1574T						.						214	211	212					1																	155885735		2203	4300	6503	SO:0001583	missense	22889	exon13			GGAAAGGCTGGTG	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.1574C>T	1.37:g.155885735G>A	ENSP00000357304:p.Ala525Val	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	56	17	NM_014949	0	0	11	17	6	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601375	0.66445	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.32023	1.47	6.02	6.02	0.97574	.	0.263978	0.41097	D	0.000951	T	0.10766	0.0263	N	0.19112	0.55	0.80722	D	1	P;B	0.36535	0.557;0.403	B;B	0.25140	0.058;0.04	T	0.04961	-1.0915	10	0.62326	D	0.03	-5.3086	15.6007	0.76623	0.0:0.137:0.863:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	V	525	ENSP00000357304:A525V	ENSP00000357303:A525V	A	-	2	0	KIAA0907	154152359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.389000	0.59639	2.857000	0.98124	0.650000	0.86243	GCC	.		0.413	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		A	155885735	G	A	155885735	3	1	62	1	0	0	0	0	1	0	0	0	8226	1203	42	3	278	3	KIAA0907	1	155885735	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	433650	155885735	93364886	119	12487											
SH2D2A	9047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156779155	156779155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggttcatcaggctcaTtgtagataggattggagggc	14	6	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156779155T>C	ENST00000368199.3	-	7	995	c.842A>G	c.(841-843)aAt>aGt	p.N281S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.N263S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.N291S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	281	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCAGGCTCATTGTAGATAGG	0.607																																					p.N291S		.											.	SH2D2A-90	0			c.A872G						.						104	108	107					1																	156779155		2203	4300	6503	SO:0001583	missense	9047	exon7			GGCTCATTGTAGA	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.842A>G	1.37:g.156779155T>C	ENSP00000357182:p.Asn281Ser	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	83	26	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	8.255	0.809889	0.16537	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.54866	0.56;0.55;0.98	3.58	3.58	0.41010	.	1.670430	0.03157	N	0.168842	T	0.16300	0.0392	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32467	0.372;0.255;0.156	B;B;B	0.25140	0.058;0.026;0.026	T	0.12116	-1.0560	10	0.11794	T	0.64	0.1309	10.4002	0.44225	0.0:0.0:0.0:1.0	.	291;263;281	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	281;263;291	ENSP00000357182:N281S;ENSP00000357181:N263S;ENSP00000376123:N291S	ENSP00000357181:N263S	N	-	2	0	SH2D2A	155045779	0.900000	0.30661	0.041000	0.18516	0.256000	0.26092	2.751000	0.47508	1.609000	0.50190	0.454000	0.30748	AAT	.		0.607	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		C	156779155	T	C	156779155	3	2	62	1	0	0	0	0	1	0	0	0	14277	1493	52	4	335	4	SH2D2A	1	156779155	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	893420	156779155	92471466	120	12488											
SH2D2A	9047	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	156779558	156779558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttttgcttccaaagttTgattcttcggtcctcaggga	10	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156779558T>C	ENST00000368199.3	-	6	762	c.609A>G	c.(607-609)tcA>tcG	p.S203S	SH2D2A_ENST00000368198.3_Silent_p.S185S|SH2D2A_ENST00000392306.2_Silent_p.S213S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	203	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCAAAGTTTGATTCTTCGG	0.587																																					p.S213S		.											.	SH2D2A-90	0			c.A639G						.						146	138	140					1																	156779558		2203	4300	6503	SO:0001819	synonymous_variant	9047	exon6			AAAGTTTGATTCT	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.609A>G	1.37:g.156779558T>C		Somatic	51	1		WXS	Illumina GAIIx	Phase_I	95	47	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																			.		0.587	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		C	156779558	T	C	156779558	2	2	62	1	0	0	0	0	0	0	0	1	14277	1799	63	4		4	SH2D2A	1	156779558	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	403	156779558	92471063	121	12489											
ARHGEF11	9826	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156926236	156926236	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttagggaagaacggTagccacttgtccttgtcagg	13	8	2	1	rs370894206		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156926236T>A	ENST00000361409.2	-	18	2269	c.1527A>T	c.(1525-1527)ctA>ctT	p.L509L	ARHGEF11_ENST00000368194.3_Silent_p.L549L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	509					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)					GGAAGAACGGTAGCCACTTGT	0.547																																					p.L549L		.											.	ARHGEF11-233	0			c.A1647T						.						163	148	154					1																	156926236		2203	4300	6503	SO:0001819	synonymous_variant	9826	exon19			GAACGGTAGCCAC	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.1527A>T	1.37:g.156926236T>A		Somatic	86	1		WXS	Illumina GAIIx	Phase_I	134	66	NM_198236	0	0	17	27	10	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																			.		0.547	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156926236	T	A	156926236	2	1	62	1	0	0	0	0	0	0	0	1	896	1625	57	5		5	ARHGEF11	1	156926236	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	146678	156926236	92324385	122	12490											
ARHGEF11	9826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156954154	156954154	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacagactgcaccagaAcaatgcgatccccactgact	8	16	0	3	rs151017400		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156954154A>T	ENST00000361409.2	-	3	942	c.200T>A	c.(199-201)gTt>gAt	p.V67D	RN7SL612P_ENST00000497704.2_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.V67D	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	67	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)					CTGCACCAGAACAATGCGATC	0.547																																					p.V67D		.											.	ARHGEF11-233	0			c.T200A						.						147	84	105					1																	156954154		2203	4298	6501	SO:0001583	missense	9826	exon3			ACCAGAACAATGC	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.200T>A	1.37:g.156954154A>T	ENSP00000354644:p.Val67Asp	Somatic	188	0		WXS	Illumina GAIIx	Phase_I	229	92	NM_198236	0	0	10	16	6	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218967	0.79464	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.33216	1.42;1.42	5.08	5.08	0.68730	PDZ/DHR/GLGF (4);	0.000000	0.50627	D	0.000109	T	0.52533	0.1740	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.62666	-0.6806	10	0.87932	D	0	-15.153	13.9783	0.64285	1.0:0.0:0.0:0.0	.	67;67	O15085;O15085-2	ARHGB_HUMAN;.	D	67	ENSP00000357177:V67D;ENSP00000354644:V67D	ENSP00000354644:V67D	V	-	2	0	ARHGEF11	155220778	0.989000	0.36119	0.100000	0.21137	0.973000	0.67179	5.057000	0.64294	2.127000	0.65507	0.533000	0.62120	GTT	A|1.000;C|0.000		0.547	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156954154	A	T	156954154	3	4	62	1	0	0	0	0	1	0	0	0	896	43	2	5	4644	5	ARHGEF11	1	156954154	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	27918	156954154	92296467	123	12491											
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	157803262	157803262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctccagtcgcccagaGcagaggttgtctcctcctac	9	16	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:157803262G>A	ENST00000368174.4	-	5	855	c.759C>T	c.(757-759)tgC>tgT	p.C253C	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	253	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)			GTCGCCCAGAGCAGAGGTTGT	0.542																																					p.C253C		.											.	CD5L-91	0			c.C759T						.						100	105	104					1																	157803262		2203	4300	6503	SO:0001819	synonymous_variant	922	exon5			CCCAGAGCAGAGG	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.759C>T	1.37:g.157803262G>A		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	55	30	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																			.		0.542	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157803262	G	A	157803262	2	1	62	1	0	0	0	0	0	0	0	1	3034	963	34	3		3	CD5L	1	157803262	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	849108	157803262	91447359	124	12492											
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	157804424	157804424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggctccagcctgtcTggcacacggtataccactgg	12	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:157804424T>C	ENST00000368174.4	-	4	587	c.491A>G	c.(490-492)cAg>cGg	p.Q164R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	164	SRCR 2. {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)			CCAGCCTGTCTGGCACACGGT	0.617																																					p.Q164R		.											.	CD5L-91	0			c.A491G						.						97	95	96					1																	157804424		2203	4300	6503	SO:0001583	missense	922	exon4			CCTGTCTGGCACA	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.491A>G	1.37:g.157804424T>C	ENSP00000357156:p.Gln164Arg	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	90	32	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977132	0.34848	.	.	ENSG00000073754	ENST00000368174	T	0.27890	1.64	5.13	3.99	0.46301	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.882556	0.09693	N	0.768156	T	0.08044	0.0201	N	0.20685	0.6	0.09310	N	1	B	0.25904	0.137	B	0.30251	0.113	T	0.36383	-0.9750	10	0.54805	T	0.06	.	4.3728	0.11256	0.1746:0.0902:0.0:0.7352	.	164	O43866	CD5L_HUMAN	R	164	ENSP00000357156:Q164R	ENSP00000357156:Q164R	Q	-	2	0	CD5L	156071048	0.141000	0.22595	0.002000	0.10522	0.004000	0.04260	0.990000	0.29642	0.946000	0.37632	-0.336000	0.08194	CAG	.		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		C	157804424	T	C	157804424	3	2	62	1	0	0	0	0	1	0	0	0	3034	1580	55	4	564	4	CD5L	1	157804424	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1162	157804424	91446197	125	12493											
KIRREL	55243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	158064671	158064671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctggcactgacacaAccagccagctgtcctacgag	9	17	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158064671A>G	ENST00000359209.6	+	15	2102	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A	KIRREL_ENST00000368172.1_Missense_Mutation_p.T493A|KIRREL_ENST00000416935.2_Missense_Mutation_p.T579A|KIRREL_ENST00000360089.4_Missense_Mutation_p.T515A|KIRREL_ENST00000392272.2_Missense_Mutation_p.T576A|KIRREL_ENST00000368173.3_Missense_Mutation_p.T695A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	679					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACTGACACAACCAGCCAGCT	0.647																																					p.T679A		.											.	KIRREL-91	0			c.A2035G						.						49	51	50					1																	158064671		2203	4300	6503	SO:0001583	missense	55243	exon15			GACACAACCAGCC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2035A>G	1.37:g.158064671A>G	ENSP00000352138:p.Thr679Ala	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	239	96	NM_018240	0	0	6	6	0	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	9.184	1.024344	0.19433	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70399	0.48;-0.48;0.13;-0.12;-0.03;0.33	4.76	-2.24	0.06909	.	0.523996	0.16002	N	0.234268	T	0.24928	0.0605	N	0.19112	0.55	0.22511	N	0.999036	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38607	-0.9653	10	0.10636	T	0.68	-11.7384	10.2985	0.43637	0.4491:0.0:0.5509:0.0	.	579;515;493;679	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	A	515;695;576;679;579;493	ENSP00000353202:T515A;ENSP00000357155:T695A;ENSP00000376098:T576A;ENSP00000352138:T679A;ENSP00000389674:T579A;ENSP00000357154:T493A	ENSP00000352138:T679A	T	+	1	0	KIRREL	156331295	0.001000	0.12720	0.048000	0.18961	0.921000	0.55340	-0.019000	0.12546	-0.367000	0.08052	0.459000	0.35465	ACC	.		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		G	158064671	A	G	158064671	3	3	62	1	0	0	0	0	1	0	0	0	8351	43	2	4	2093	4	KIRREL	1	158064671	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	260247	158064671	91185950	126	12494											
OR10K2	391107	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	158389762	158389762	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaattttacaaagagctgAtttgaactctttatttctca	4	8	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158389762A>T	ENST00000314902.2	-	1	894	c.895T>A	c.(895-897)Tca>Aca	p.S299T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAAGAGCTGATTTGAACTCT	0.363																																					p.S299T		.											.	OR10K2-69	0			c.T895A						.						58	63	62					1																	158389762		2203	4300	6503	SO:0001583	missense	391107	exon1			GAGCTGATTTGAA	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.895T>A	1.37:g.158389762A>T	ENSP00000324251:p.Ser299Thr	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	167	62	NM_001004476	0	0	0	0	0		Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.462929	0.01062	.	.	ENSG00000180708	ENST00000314902	T	0.37584	1.19	4.12	2.94	0.34122	.	0.723828	0.11384	N	0.569532	T	0.05364	0.0142	N	0.05351	-0.065	0.25266	N	0.989551	B	0.13145	0.007	B	0.10450	0.005	T	0.42799	-0.9430	10	0.15952	T	0.53	.	5.9663	0.19326	0.668:0.1689:0.0:0.1631	.	299	Q6IF99	O10K2_HUMAN	T	299	ENSP00000324251:S299T	ENSP00000324251:S299T	S	-	1	0	OR10K2	156656386	0.000000	0.05858	0.910000	0.35882	0.144000	0.21451	-0.395000	0.07287	0.681000	0.31386	0.482000	0.46254	TCA	.		0.363	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		T	158389762	A	T	158389762	3	4	62	1	0	0	0	0	1	0	0	0	10953	333	12	5	45	5	OR10K2	1	158389762	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	325091	158389762	90860859	127	12495											
OR10Z1	128368	hgsc.bcm.edu;bcgsc.ca	37	chr1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-													gaatgctctctggcctggctGggggggaccaggctatctcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)gggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGCCTGGCTGGGGGGGACCA	0.552																																					p.G87fs		.											.	OR10Z1-70	0			c.259delG						.						183	191	188					1																	158576487		2203	4300	6503	SO:0001589	frameshift_variant	128368	exon1			CTGGCTGGGGGGG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.259delG	1.37:g.158576487delG	ENSP00000354707:p.Gly88fs	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	135	54	NM_001004478	0	0	0	0	0	Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	CCDS30901.1																																																																																			.		0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		-	158576487	G	-	158576487	7	5	62	1	0	1	0	1	0	0	0	0	10962	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	186725	158576487	90674134	128	12496											
IGSF9	57549	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	159898610	159898610	+	Frame_Shift_Del	DEL	C	C	-													tggggggccgccacagtgggCcccatcacaaagcgcccgtc					rs566383386		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:159898610delC	ENST00000368094.1	-	19	2765	c.2568delG	c.(2566-2568)gggfs	p.G856fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Del_p.G840fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	856	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACAGTGGGCCCCATCACAA	0.682																																					p.G856fs		.											.	IGSF9-156	0			c.2568delG						.						6	6	6					1																	159898610		2092	4139	6231	SO:0001589	frameshift_variant	57549	exon19			AGTGGGCCCCATC	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2568delG	1.37:g.159898610delC	ENSP00000357073:p.Gly856fs	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	37	12	NM_001135050	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000368094.1	37	CCDS44254.1																																																																																			.		0.682	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		-	159898610	C	-	159898610	7	5	62	1	0	1	0	1	0	0	0	0	7632	726	26	0	983	0	IGSF9	1	159898610	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	1322123	159898610	89352011	129	12497											
KCNJ10	3766	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	160011970	160011970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaagggagaagaggaagGctccagtgagtgtgtgcacc	15	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:160011970G>A	ENST00000368089.3	-	2	579	c.353C>T	c.(352-354)gCc>gTc	p.A118V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	118					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GAAGAGGAAGGCTCCAGTGAG	0.572																																					p.A118V	GBM(167;1368 2014 14817 36425 43215)	.											.	KCNJ10-91	0			c.C353T						.						125	127	126					1																	160011970		2203	4300	6503	SO:0001583	missense	3766	exon2			AGGAAGGCTCCAG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.353C>T	1.37:g.160011970G>A	ENSP00000357068:p.Ala118Val	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	134	55	NM_002241	0	0	0	0	0	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614180	0.87359	.	.	ENSG00000177807	ENST00000368089	D	0.97352	-4.35	5.26	5.26	0.73747	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	.	16.4095	0.83703	0.0:0.0:1.0:0.0	.	118	P78508	IRK10_HUMAN	V	118	ENSP00000357068:A118V	ENSP00000357068:A118V	A	-	2	0	KCNJ10	158278594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GCC	.		0.572	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		A	160011970	G	A	160011970	3	1	62	1	0	0	0	0	1	0	0	0	8071	1203	42	3	790	3	KCNJ10	1	160011970	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	113360	160011970	89238651	130	12498											
F11R	50848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	160969185	160969185	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacagcacctcactcaCcctttctttgttcctgaaag	6	15	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:160969185C>T	ENST00000368026.6	-	8	1090		c.e8+1		F11R_ENST00000537746.1_Splice_Site|F11R_ENST00000472573.1_5'Flank|F11R_ENST00000289779.3_Splice_Site	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACCTCACTCACCCTTTCTTTG	0.527																																					.		.											.	F11R-92	0			c.815+1G>A						.						207	204	205					1																	160969185		2203	4300	6503	SO:0001630	splice_region_variant	50848	exon9			CACTCACCCTTTC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.815+1G>A	1.37:g.160969185C>T		Somatic	196	0		WXS	Illumina GAIIx	Phase_I	195	71	NM_016946	0	0	0	0	0	B7Z941	Splice_Site	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446920	0.63178	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5162	0.61541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F11R	159235809	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.747000	0.55134	2.543000	0.85770	0.557000	0.71058	.	.		0.527	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	Intron	T	160969185	C	T	160969185	5	4	62	1	0	0	0	0	0	0	1	0	5354	521	18	3	95	3	F11R	1	160969185	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	957215	160969185	88281436	131	12499											
TSTD1	100131187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161007709	161007709	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacctccccgtacccagtgTatccaagactccgggccagc	8	18	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161007709T>A	ENST00000423014.2	-	3	390	c.290A>T	c.(289-291)tAc>tTc	p.Y97F	TSTD1_ENST00000318289.10_Missense_Mutation_p.Y97F|TSTD1_ENST00000466967.1_Missense_Mutation_p.Y44F|TSTD1_ENST00000368023.3_Missense_Mutation_p.Y104F|TSTD1_ENST00000368024.1_Missense_Mutation_p.Y56F|F11R_ENST00000289779.3_Intron	NM_001113205.1|NM_001113207.1	NP_001106676.1|NP_001106678.1	Q8NFU3	TSTD1_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 1	97	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.					cytoplasm (GO:0005737)											GTACCCAGTGTATCCAAGACT	0.587																																					p.Y97F		.											.	.	0			c.A290T						.						47	56	53					1																	161007709		692	1591	2283	SO:0001583	missense	100131187	exon3			CCAGTGTATCCAA		CCDS44257.1, CCDS44258.1, CCDS53400.1	1q23.3	2009-09-02			ENSG00000215845	ENSG00000215845			35410	protein-coding gene	gene with protein product						12817473	Standard	NM_001113205		Approved	KAT		Q8NFU3	OTTHUMG00000031476	ENST00000423014.2:c.290A>T	1.37:g.161007709T>A	ENSP00000388293:p.Tyr97Phe	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	117	48	NM_001113207	0	0	0	0	0	Q5SY48|Q5SY49|Q5SY50|Q5SY51|Q8NFU2|Q9BV22	Missense_Mutation	SNP	ENST00000423014.2	37	CCDS53400.1	.	.	.	.	.	.	.	.	.	.	T	1.665	-0.510503	0.04231	.	.	ENSG00000215845	ENST00000318289;ENST00000368023;ENST00000368024;ENST00000423014	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.15	5.15	0.70609	Rhodanese-like (5);	0.404099	0.22155	N	0.063865	T	0.07234	0.0183	N	0.05441	-0.05	0.34597	D	0.716099	B;B;P	0.40619	0.43;0.38;0.724	B;B;B	0.39152	0.251;0.15;0.292	T	0.15093	-1.0449	10	0.20519	T	0.43	-12.6165	11.3	0.49300	0.0:0.0:0.0:1.0	.	97;56;97	Q8NFU3;Q8NFU3-2;Q8NFU3-3	TSTD1_HUMAN;.;.	F	97;104;56;97	ENSP00000325518:Y97F;ENSP00000357002:Y104F;ENSP00000357003:Y56F;ENSP00000388293:Y97F	ENSP00000325518:Y97F	Y	-	2	0	TSTD1	159274333	0.990000	0.36364	0.991000	0.47740	0.155000	0.21991	3.041000	0.49807	2.155000	0.67459	0.460000	0.39030	TAC	.		0.587	TSTD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077078.2	NM_001113207		A	161007709	T	A	161007709	3	1	62	1	0	0	0	0	1	0	0	0	16723	1638	57	5	99	5	TSTD1	1	161007709	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	38524	161007709	88242912	132	12500											
USP21	27005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161130942	161130942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccccctaccctgttcaGcatacggacagagccccctg	9	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161130942G>A	ENST00000289865.8	+	2	733	c.512G>A	c.(511-513)aGc>aAc	p.S171N	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.S171N|USP21_ENST00000368001.1_Missense_Mutation_p.S171N	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	171					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)			ACCCTGTTCAGCATACGGACA	0.607																																					p.S171N		.											.	USP21-660	0			c.G512A						.						57	55	55					1																	161130942		2203	4300	6503	SO:0001583	missense	27005	exon3			TGTTCAGCATACG	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.512G>A	1.37:g.161130942G>A	ENSP00000289865:p.Ser171Asn	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	91	43	NM_001014443	0	0	10	25	15	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867145	0.17250	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.41758	0.99;0.99;0.99	4.89	1.82	0.25136	.	1.455470	0.04035	N	0.302210	T	0.10035	0.0246	N	0.08118	0	0.25835	N	0.984125	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.5973	0.33723	0.089:0.3074:0.6035:0.0	.	171	Q9UK80	UBP21_HUMAN	N	171	ENSP00000356981:S171N;ENSP00000289865:S171N;ENSP00000356980:S171N	ENSP00000289865:S171N	S	+	2	0	USP21	159397566	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	2.851000	0.48302	0.656000	0.30886	-0.502000	0.04539	AGC	.		0.607	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			A	161130942	G	A	161130942	3	1	62	1	0	0	0	0	1	0	0	0	17102	971	34	3	514	3	USP21	1	161130942	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	123233	161130942	88119679	133	12501											
NDUFS2	4720	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	161173239	161173239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagaggtgttcggcaGtggcagccagatgtggaatg	15	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161173239G>T	ENST00000367993.3	+	3	556	c.108G>T	c.(106-108)caG>caT	p.Q36H	NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000392179.4_Missense_Mutation_p.Q36H	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	36					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GTGTTCGGCAGTGGCAGCCAG	0.537																																					p.Q36H		.											.	NDUFS2-91	0			c.G108T						.						69	64	66					1																	161173239		2203	4300	6503	SO:0001583	missense	4720	exon2			TCGGCAGTGGCAG	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.108G>T	1.37:g.161173239G>T	ENSP00000356972:p.Gln36His	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	148	10	NM_001166159	0	0	106	114	8	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602394	0.28534	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85702	-2.02;-2.01	4.94	-9.41	0.00613	.	0.068742	0.64402	D	0.000016	T	0.53334	0.1790	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34354	-0.9832	10	0.16896	T	0.51	.	18.0349	0.89298	0.7217:0.0:0.2783:0.0	.	36;36	Q53HG2;O75306	.;NDUS2_HUMAN	H	36	ENSP00000356972:Q36H;ENSP00000376018:Q36H	ENSP00000356972:Q36H	Q	+	3	2	NDUFS2	159439863	0.084000	0.21492	0.217000	0.23759	0.984000	0.73092	-0.600000	0.05693	-2.267000	0.00686	-0.150000	0.13652	CAG	.		0.537	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		T	161173239	G	T	161173239	3	4	62	1	0	0	0	0	1	0	0	0	10331	1020	36	3	114	3	NDUFS2	1	161173239	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	42297	161173239	88077382	134	12502											
FCGR3A	2214	broad.mit.edu;bcgsc.ca	37	chr1	161514695	161514695	+	Missense_Mutation	SNP	G	G	A													ccagctgtgacacctcaggtGaatagggtcttcctccttga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161514695G>A	ENST00000436743.1	-	5	527	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.H160Y|FCGR3A_ENST00000540048.1_Missense_Mutation_p.H125Y|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000367969.3_Missense_Mutation_p.H161Y	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	125	Ig-like C2-type 2.				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)	CACCTCAGGTGAATAGGGTCT	0.517																																					p.H161Y		.											.	FCGR3A-91	0			c.C481T						.						79	72	74					1																	161514695		2203	4297	6500	SO:0001583	missense	2214	exon4			TCAGGTGAATAGG	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.373C>T	1.37:g.161514695G>A	ENSP00000416607:p.His125Tyr	Somatic	207	1		WXS	Illumina GAIIx	Phase_I	239	85	NM_000569	0	0	9	9	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121621	0.37436	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.03	-1.83	0.07833	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.080850	0.01020	N	0.003976	T	0.06050	0.0157	L	0.48642	1.525	0.09310	N	1	D;P;D	0.60575	0.988;0.944;0.962	P;B;P	0.55345	0.546;0.37;0.774	T	0.42413	-0.9453	10	0.02654	T	1	.	5.8314	0.18582	0.2621:0.4477:0.2903:0.0	.	125;160;125	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	Y	161;160;125;125;125	ENSP00000356946:H161Y;ENSP00000392047:H160Y;ENSP00000416607:H125Y;ENSP00000356944:H125Y;ENSP00000444971:H125Y	ENSP00000356944:H125Y	H	-	1	0	FCGR3A	159781319	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.051000	0.03507	-0.154000	0.11118	0.467000	0.42956	CAC	.		0.517	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		A	161514695	G	A	161514695	3	1	62	1	0	0	0	0	1	0	0	0	5806	1290	45	3	399	3	FCGR3A	1	161514695	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	341456	161514695	87735926	135	12503	122	2									
FCGR3A	2214	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	161514700	161514700	+	Missense_Mutation	SNP	G	G	A													tgtgacacctcaggtgaataGggtcttcctccttgaacacc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161514700G>A	ENST00000436743.1	-	5	522	c.368C>T	c.(367-369)cCt>cTt	p.P123L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.P158L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.P123L|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000367969.3_Missense_Mutation_p.P159L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	123	Ig-like C2-type 2.				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)	CAGGTGAATAGGGTCTTCCTC	0.527																																					p.P159L		.											.	FCGR3A-91	0			c.C476T						.						74	68	70					1																	161514700		2203	4297	6500	SO:0001583	missense	2214	exon4			TGAATAGGGTCTT	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.368C>T	1.37:g.161514700G>A	ENSP00000416607:p.Pro123Leu	Somatic	197	1		WXS	Illumina GAIIx	Phase_I	230	81	NM_000569	0	0	9	9	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497211	0.26861	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.03	0.926	0.19430	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.692640	0.12590	N	0.455670	T	0.04227	0.0117	L	0.52823	1.66	0.09310	N	1	B;B;B	0.15473	0.0;0.001;0.013	B;B;B	0.19148	0.006;0.005;0.024	T	0.39702	-0.9601	10	0.62326	D	0.03	.	3.6824	0.08316	0.0872:0.2893:0.4574:0.1661	.	123;158;123	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	L	159;158;123;123;123	ENSP00000356946:P159L;ENSP00000392047:P158L;ENSP00000416607:P123L;ENSP00000356944:P123L;ENSP00000444971:P123L	ENSP00000356944:P123L	P	-	2	0	FCGR3A	159781324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.169000	0.03120	0.038000	0.15604	-0.463000	0.05309	CCT	.		0.527	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		A	161514700	G	A	161514700	3	1	62	1	0	0	0	0	1	0	0	0	5806	1000	35	3	404	3	FCGR3A	1	161514700	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5	161514700	87735921	136	12504	122	2									
UHMK1	127933	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	162467903	162467903	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggctcctccgcctcggtgtAtcgggttcgctgctgcggca	14	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:162467903A>T	ENST00000489294.1	+	1	271	c.113A>T	c.(112-114)tAt>tTt	p.Y38F	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000538489.1_Missense_Mutation_p.Y38F|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	38	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)			GCCTCGGTGTATCGGGTTCGC	0.721																																					p.Y38F		.											.	UHMK1-358	0			c.A113T						.						11	13	12					1																	162467903		2169	4246	6415	SO:0001583	missense	127933	exon1			CGGTGTATCGGGT	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.113A>T	1.37:g.162467903A>T	ENSP00000420270:p.Tyr38Phe	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	194	72	NM_144624	0	0	8	21	13	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976116	0.74360	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.25414	1.8;1.8	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	0.85682	D	0.000000	T	0.21550	0.0519	L	0.35414	1.06	.	.	.	D;D	0.62365	0.988;0.991	D;D	0.74348	0.971;0.983	T	0.03898	-1.0994	9	0.14656	T	0.56	-7.2111	11.1664	0.48545	1.0:0.0:0.0:0.0	.	38;38	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	F	38	ENSP00000446416:Y38F;ENSP00000420270:Y38F	ENSP00000420270:Y38F	Y	+	2	0	UHMK1	160734527	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.667000	0.54547	2.192000	0.70111	0.533000	0.62120	TAT	.		0.721	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		T	162467903	A	T	162467903	3	4	62	1	0	0	0	0	1	0	0	0	17015	449	16	5	165	5	UHMK1	1	162467903	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	953203	162467903	86782718	137	12505											
FAM78B	149297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	166135378	166135378	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcaggacgatgggcgaggtCtcctcgatgcgcgtggggca	18	11	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:166135378C>T	ENST00000338353.3	-	2	697	c.108G>A	c.(106-108)gaG>gaA	p.E36E	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Silent_p.E36E			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	36										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGCGAGGTCTCCTCGATGC	0.652																																					p.E36E		.											.	FAM78B-91	0			c.G108A						.						85	61	69					1																	166135378		2202	4300	6502	SO:0001819	synonymous_variant	149297	exon1			CGAGGTCTCCTCG	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.108G>A	1.37:g.166135378C>T		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	195	76	NM_001017961	0	0	1	2	1	B7Z693	Silent	SNP	ENST00000338353.3	37	CCDS30931.1																																																																																			.		0.652	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		T	166135378	C	T	166135378	2	4	62	1	0	0	0	0	0	0	0	1	5649	912	32	3		3	FAM78B	1	166135378	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3667475	166135378	83115243	138	12506											
SELP	6403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	169578907	169578907	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttccgtggacaggactctCcagcggctcacacgaaatag	11	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:169578907C>G	ENST00000263686.6	-	8	1205	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	SELP_ENST00000367793.2_Missense_Mutation_p.E328Q|SELP_ENST00000367786.2_Missense_Mutation_p.E328Q|SELP_ENST00000367792.2_Missense_Mutation_p.E328Q|SELP_ENST00000367794.2_Missense_Mutation_p.E328Q|SELP_ENST00000458599.2_Missense_Mutation_p.E328Q|SELP_ENST00000367788.2_Missense_Mutation_p.E328Q|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	390	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACAGGACTCTCCAGCGGCTCA	0.478																																					p.E390Q		.											.	SELP-94	0			c.G1168C						.						76	66	69					1																	169578907		2203	4300	6503	SO:0001583	missense	6403	exon8			GACTCTCCAGCGG	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.1168G>C	1.37:g.169578907C>G	ENSP00000263686:p.Glu390Gln	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	102	50	NM_003005	0	0	0	0	0	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.895342|2.895342	0.52121|0.52121	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.64438|.	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1|.	5.44|5.44	3.54|3.54	0.40534|0.40534	Complement control module (2);Sushi/SCR/CCP (3);|.	0.412971|.	0.23141|.	N|.	0.051467|.	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.52266|0.52266	1.64|1.64	0.22479|0.22479	N|N	0.999069|0.999069	D;P;D|.	0.59357|.	0.979;0.73;0.985|.	P;P;P|.	0.60541|.	0.876;0.513;0.804|.	T|T	0.22836|0.22836	-1.0205|-1.0205	10|5	0.18710|.	T|.	0.47|.	-4.3241|-4.3241	4.7479|4.7479	0.13047|0.13047	0.1547:0.614:0.1496:0.0817|0.1547:0.614:0.1496:0.0817	.|.	390;390;390|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	Q|A	390;389;328;390;390;328;328;328;328;328;313|327	ENSP00000263686:E390Q;ENSP00000356767:E328Q;ENSP00000356768:E328Q;ENSP00000356766:E328Q;ENSP00000356762:E328Q;ENSP00000356760:E328Q|.	ENSP00000263686:E390Q|.	E|G	-|-	1|2	0|0	SELP|SELP	167845531|167845531	0.000000|0.000000	0.05858|0.05858	0.122000|0.122000	0.21767|0.21767	0.821000|0.821000	0.46438|0.46438	0.111000|0.111000	0.15458|0.15458	0.754000|0.754000	0.32968|0.32968	0.650000|0.650000	0.86243|0.86243	GAG|GGA	.		0.478	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		G	169578907	C	G	169578907	3	3	62	1	0	0	0	0	1	0	0	0	14064	864	30	3	1360	3	SELP	1	169578907	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3443529	169578907	79671714	139	12507											
FMO2	2327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	171168622	171168622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagctgagtaagaatgctGctcaggtgtgatgctctctg	13	7	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:171168622G>A	ENST00000209929.7	+	5	780	c.622G>A	c.(622-624)Gct>Act	p.A208T	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Missense_Mutation_p.A208T|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	208					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGAATGCTGCTCAGGTGTG	0.502																																					p.A208T		.											.	FMO2-91	0			c.G622A						.						133	138	136					1																	171168622		2203	4300	6503	SO:0001583	missense	2327	exon5			AATGCTGCTCAGG	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.622G>A	1.37:g.171168622G>A	ENSP00000209929:p.Ala208Thr	Somatic	196	1		WXS	Illumina GAIIx	Phase_I	241	108	NM_001460	0	0	0	0	0	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244890	0.59103	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.61158	0.13;0.13	6.17	4.29	0.51040	.	0.391884	0.30320	N	0.009889	T	0.29882	0.0747	L	0.46741	1.465	0.27353	N	0.956188	B	0.18461	0.028	B	0.25759	0.063	T	0.18241	-1.0343	10	0.33940	T	0.23	-7.3182	9.5994	0.39593	0.0737:0.0:0.7838:0.1425	.	208	Q99518	FMO2_HUMAN	T	208	ENSP00000209929:A208T;ENSP00000405905:A208T	ENSP00000209929:A208T	A	+	1	0	FMO2	169435246	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.372000	0.20467	0.908000	0.36671	0.655000	0.94253	GCT	.		0.502	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		A	171168622	G	A	171168622	3	1	62	1	0	0	0	0	1	0	0	0	5977	1319	46	3	636	3	FMO2	1	171168622	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1589715	171168622	78081999	140	12508											
ANKRD45	339416	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	173616087	173616087	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcttctatatcaacatccaGttctaccagtgctttcaaag	5	11	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:173616087G>C	ENST00000333279.2	-	3	454	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	148										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCAACATCCAGTTCTACCAGT	0.453																																					p.L132V		.											.	ANKRD45-90	0			c.C394G						.						138	134	135					1																	173616087		2203	4300	6503	SO:0001583	missense	339416	exon3			CATCCAGTTCTAC		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.394C>G	1.37:g.173616087G>C	ENSP00000331268:p.Leu132Val	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	139	56	NM_198493	0	0	0	0	0	A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524805	0.44969	.	.	ENSG00000183831	ENST00000333279	T	0.64803	-0.12	5.43	-0.926	0.10455	Ankyrin repeat-containing domain (4);	0.182576	0.35207	N	0.003366	T	0.38719	0.1051	L	0.42245	1.32	0.20821	N	0.999848	D	0.53312	0.959	P	0.52343	0.696	T	0.50808	-0.8784	10	0.16896	T	0.51	-3.1534	9.4304	0.38606	0.2193:0.0:0.6573:0.1234	.	148	Q5TZF3	ANR45_HUMAN	V	132	ENSP00000331268:L132V	ENSP00000331268:L132V	L	-	1	2	ANKRD45	171882710	0.290000	0.24343	0.277000	0.24703	0.921000	0.55340	0.448000	0.21726	-0.052000	0.13311	0.557000	0.71058	CTG	.		0.453	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		C	173616087	G	C	173616087	3	2	62	1	0	0	0	0	1	0	0	0	673	1020	36	3	422	3	ANKRD45	1	173616087	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2447465	173616087	75634534	141	12509											
TOR3A	64222	hgsc.bcm.edu	37	chr1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagctttggctctttTtcctgctgctgctcccgggc	12	15	1	0	rs2296377	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2	3	3		37	-0.8	0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179051300	T	C	179051300	3	2	62	1	0	0	0	0	1	0	0	0	16424	1841	64	4	39	4	TOR3A	1	179051300	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5435213	179051300	70199321	142	12510											
ACBD6	84320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	180471390	180471390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcccccgcgggcaggaaTgatgaagccatgtctccttg	13	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:180471390T>C	ENST00000367595.3	-	1	699	c.12A>G	c.(10-12)tcA>tcG	p.S4S		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	4						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CGGGCAGGAATGATGAAGCCA	0.652																																					p.S4S		.											.	ACBD6-91	0			c.A12G						.						29	32	31					1																	180471390		2203	4300	6503	SO:0001819	synonymous_variant	84320	exon1			CAGGAATGATGAA	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"Ankyrin repeat domain containing"	23339	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 6"			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.12A>G	1.37:g.180471390T>C		Somatic	243	1		WXS	Illumina GAIIx	Phase_I	274	132	NM_032360	0	0	29	54	25		Silent	SNP	ENST00000367595.3	37	CCDS1339.1																																																																																			.		0.652	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		C	180471390	T	C	180471390	2	2	62	1	0	0	0	0	0	0	0	1	126	1451	51	4		4	ACBD6	1	180471390	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1420090	180471390	68779231	143	12511											
KIAA1614	57710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	180904988	180904988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcagcagcccgcgactgcGactgcggggctccaggcctc	15	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:180904988G>A	ENST00000367588.4	+	5	1998	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R269Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	648										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGCGACTGCGACTGCGGGGC	0.672																																					p.R648Q		.											.	KIAA1614-26	0			c.G1943A						.						21	26	25					1																	180904988		2046	4186	6232	SO:0001583	missense	57710	exon5			GACTGCGACTGCG	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.1943G>A	1.37:g.180904988G>A	ENSP00000356560:p.Arg648Gln	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	158	70	NM_020950	0	0	2	2	0	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.815301	0.32053	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.38;1.82	3.64	1.66	0.24008	.	1.568880	0.04859	N	0.443849	T	0.17959	0.0431	L	0.27053	0.805	0.25951	N	0.982746	B	0.24576	0.106	B	0.06405	0.002	T	0.25047	-1.0143	9	0.25751	T	0.34	.	7.8597	0.29504	0.3018:0.0:0.6982:0.0	.	648	Q5VZ46	K1614_HUMAN	Q	648;269	ENSP00000356560:R648Q;ENSP00000356559:R269Q	ENSP00000356559:R269Q	R	+	2	0	KIAA1614	179171611	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.977000	0.29475	0.660000	0.30964	0.556000	0.70494	CGA	.		0.672	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		A	180904988	G	A	180904988	3	1	62	1	0	0	0	0	1	0	0	0	8275	1058	37	1	1961	1	KIAA1614	1	180904988	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	433598	180904988	68345633	144	12512											
CACNA1E	777	broad.mit.edu;bcgsc.ca	37	chr1	181702837	181702837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagagcaccagcgtcacCgtcgccatccccgacgtgga	11	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:181702837C>T	ENST00000367573.2	+	21	3213	c.3213C>T	c.(3211-3213)acC>acT	p.T1071T	CACNA1E_ENST00000358338.5_Silent_p.T1003T|CACNA1E_ENST00000367570.1_Silent_p.T1071T|CACNA1E_ENST00000367567.4_Silent_p.T678T|CACNA1E_ENST00000357570.5_Silent_p.T1022T|CACNA1E_ENST00000360108.3_Silent_p.T1052T|CACNA1E_ENST00000526775.1_Silent_p.T1052T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1071					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						CCAGCGTCACCGTCGCCATCC	0.637																																					p.T1071T		.											.	CACNA1E-95	0			c.C3213T						.						42	48	46					1																	181702837		2190	4270	6460	SO:0001819	synonymous_variant	777	exon21			CGTCACCGTCGCC	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.3213C>T	1.37:g.181702837C>T		Somatic	400	0		WXS	Illumina GAIIx	Phase_I	534	24	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.637	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181702837	C	T	181702837	2	4	62	1	0	0	0	0	0	0	0	1	2549	639	23	1		1	CACNA1E	1	181702837	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	797849	181702837	67547784	145	12513											
ZNF648	127665	hgsc.bcm.edu	37	chr1	182026352	182026352	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccgcggggctcagcGgcttgctgggcttctgaaag	16	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:182026352G>C	ENST00000339948.3	-	2	1001	c.794C>G	c.(793-795)cCg>cGg	p.P265R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGGGCTCAGCGGCTTGCTGGG	0.726																																					p.P265R	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C794G						.						5	7	6					1																	182026352		2116	4066	6182	SO:0001583	missense	127665	exon2			CTCAGCGGCTTGC	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.794C>G	1.37:g.182026352G>C	ENSP00000344129:p.Pro265Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	9	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004710	0.07773	.	.	ENSG00000179930	ENST00000339948	T	0.14022	2.54	2.56	-5.12	0.02893	.	.	.	.	.	T	0.05960	0.0155	N	0.12961	0.28	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34403	-0.9830	9	0.62326	D	0.03	.	1.9763	0.03416	0.4728:0.2573:0.1408:0.129	.	265	Q5T619	ZN648_HUMAN	R	265	ENSP00000344129:P265R	ENSP00000344129:P265R	P	-	2	0	ZNF648	180292975	0.027000	0.19231	0.000000	0.03702	0.002000	0.02628	1.240000	0.32731	-1.852000	0.01166	-0.122000	0.15005	CCG	.		0.726	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		C	182026352	G	C	182026352	3	2	62	1	0	0	0	0	1	0	0	0	18111	1116	39	2	916	2	ZNF648	1	182026352	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	323515	182026352	67224269	146	12514											
ZNF648	127665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	182026897	182026897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcccccagcactggaggaGtcagagaatttctcttcctc	9	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:182026897G>C	ENST00000339948.3	-	2	456	c.249C>G	c.(247-249)gaC>gaG	p.D83E		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	83					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						CACTGGAGGAGTCAGAGAATT	0.562																																					p.D83E	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C249G						.						81	83	83					1																	182026897		2203	4300	6503	SO:0001583	missense	127665	exon2			GGAGGAGTCAGAG	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.249C>G	1.37:g.182026897G>C	ENSP00000344129:p.Asp83Glu	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	148	77	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	5.906	0.351337	0.11182	.	.	ENSG00000179930	ENST00000339948	T	0.07327	3.2	2.61	1.64	0.23874	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44847	-0.9301	9	0.05351	T	0.99	.	7.0774	0.25211	0.0:0.3033:0.6967:0.0	.	83	Q5T619	ZN648_HUMAN	E	83	ENSP00000344129:D83E	ENSP00000344129:D83E	D	-	3	2	ZNF648	180293520	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.666000	0.25097	0.620000	0.30215	0.655000	0.94253	GAC	.		0.562	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		C	182026897	G	C	182026897	3	2	62	1	0	0	0	0	1	0	0	0	18111	1020	36	3	1461	3	ZNF648	1	182026897	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	545	182026897	67223724	147	12515											
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186908147	186908147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgtataggtatatgTcaaccttgtattctcaccct	6	9	3	0	rs201251994		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:186908147T>C	ENST00000367466.3	+	9	855	c.703T>C	c.(703-705)Tca>Cca	p.S235P	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S175P|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	235	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TAGGTATATGTCAACCTTGTA	0.368																																					p.S235P		.											.	PLA2G4A-721	0			c.T703C						.						179	171	174					1																	186908147		2203	4300	6503	SO:0001583	missense	5321	exon9			TATATGTCAACCT	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.703T>C	1.37:g.186908147T>C	ENSP00000356436:p.Ser235Pro	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	61	29	NM_024420	0	0	0	0	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802194	0.90538	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05925	3.37;3.37	5.93	5.93	0.95920	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03728	-1.1009	10	0.66056	D	0.02	-16.3786	15.5682	0.76309	0.0:0.0:0.0:1.0	.	175;235	E7EU42;P47712	.;PA24A_HUMAN	P	235;175	ENSP00000356436:S235P;ENSP00000406892:S175P	ENSP00000356436:S235P	S	+	1	0	PLA2G4A	185174770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.930000	0.87610	2.265000	0.75225	0.533000	0.62120	TCA	T|0.999;A|0.001		0.368	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		C	186908147	T	C	186908147	3	2	62	1	0	0	0	0	1	0	0	0	12040	1667	58	4	733	4	PLA2G4A	1	186908147	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4881250	186908147	62342474	148	12516											
B3GALT2	8707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	193149518	193149518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaaatggttccagtatTttatcagttcactaggctgg	10	6	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:193149518T>C	ENST00000367434.4	-	2	1930	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	392					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GTTCCAGTATTTTATCAGTTC	0.423																																					p.K392R		.											.	B3GALT2-91	0			c.A1175G						.						128	124	125					1																	193149518		2203	4300	6503	SO:0001583	missense	8707	exon2			CAGTATTTTATCA	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1175A>G	1.37:g.193149518T>C	ENSP00000356404:p.Lys392Arg	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	140	65	NM_003783	0	0	0	0	0	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530566	0.27387	.	.	ENSG00000162630	ENST00000367434	T	0.39406	1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	L	0.33485	1.01	0.53688	D	0.999978	B	0.29988	0.264	B	0.26864	0.074	T	0.08848	-1.0702	10	0.16420	T	0.52	.	15.2201	0.73306	0.0:0.0:0.0:1.0	.	392	O43825	B3GT2_HUMAN	R	392	ENSP00000356404:K392R	ENSP00000356404:K392R	K	-	2	0	B3GALT2	191416141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.163000	0.64948	1.991000	0.58162	0.454000	0.30748	AAA	.		0.423	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		C	193149518	T	C	193149518	3	2	62	1	0	0	0	0	1	0	0	0	1249	1841	64	4	97	4	B3GALT2	1	193149518	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	6241371	193149518	56101103	149	12517											
KIF21B	23046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	200974545	200974545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtggtgcgggacaggGccccctgcttcaggcactgg	17	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:200974545G>A	ENST00000422435.2	-	5	939	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A208V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A208V|KIF21B_ENST00000332129.2_Missense_Mutation_p.A208V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGGACAGGGCCCCCTGCTT	0.627																																					p.A208V		.											.	KIF21B-96	0			c.C623T						.						103	94	97					1																	200974545		2203	4300	6503	SO:0001583	missense	23046	exon5			GACAGGGCCCCCT	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.623C>T	1.37:g.200974545G>A	ENSP00000411831:p.Ala208Val	Somatic	117	2		WXS	Illumina GAIIx	Phase_I	155	73	NM_017596	0	0	2	2	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454721	0.84209	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	L	0.33293	1	0.80722	D	1	B;B;D;B	0.76494	0.114;0.114;0.999;0.094	B;B;D;B	0.83275	0.11;0.11;0.996;0.067	D	0.83626	0.0142	10	0.87932	D	0	.	18.8465	0.92209	0.0:0.0:1.0:0.0	.	208;208;208;208	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	208	ENSP00000328494:A208V;ENSP00000353724:A208V;ENSP00000433808:A208V;ENSP00000411831:A208V	ENSP00000328494:A208V	A	-	2	0	KIF21B	199241168	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.409000	0.66374	2.446000	0.82766	0.655000	0.94253	GCC	.		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200974545	G	A	200974545	3	1	62	1	0	0	0	0	1	0	0	0	8316	1203	42	3	4371	3	KIF21B	1	200974545	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7825027	200974545	48276076	150	12518											
FMOD	2331	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	203317354	203317354	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttcatactgggcctgggaGagggagaagagccctgccag	15	10	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203317354G>C	ENST00000354955.4	-	2	508	c.45C>G	c.(43-45)ctC>ctG	p.L15L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	15					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGCCTGGGAGAGGGAGAAGA	0.562																																					p.L15L		.											.	FMOD-137	0			c.C45G						.						58	60	59					1																	203317354		2203	4300	6503	SO:0001819	synonymous_variant	2331	exon2			CTGGGAGAGGGAG	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.45C>G	1.37:g.203317354G>C		Somatic	142	1		WXS	Illumina GAIIx	Phase_I	200	90	NM_002023	0	0	0	0	0	Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	CCDS30976.1																																																																																			.		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		C	203317354	G	C	203317354	2	2	62	1	0	0	0	0	0	0	0	1	5981	929	33	3		3	FMOD	1	203317354	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2342809	203317354	45933267	151	12519											
SNRPE	6635	bcgsc.ca	37	chr1	203832838	203832839	+	Frame_Shift_Ins	INS	-	-	C													agcaagtgaatatgcggataINSgaaggctgtatcattgtgag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203832838_203832839insC	ENST00000414487.2	+	3	174_175	c.129_130insC	c.(130-132)gaafs	p.E44fs	SNRPE_ENST00000367208.1_Frame_Shift_Ins_p.E4fs|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	44					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATATGCGGATAGAAGGCTGTAT	0.411																																					p.I43fs	Ovarian(83;324 1318 17952 32395 39614)	.											.	SNRPE-514	0			c.129_130insC						.																																			SO:0001589	frameshift_variant	6635	exon3			GCGGATAGAAGGC	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	Exception_encountered	1.37:g.203832838_203832839insC	ENSP00000400591:p.Glu44fs	Somatic	316	2		WXS	Illumina GAIIx	Phase_I	321	139	NM_003094	0	0	0	0	0	B2R5B9|P08578|Q15498|Q5BKT2	Frame_Shift_Ins	INS	ENST00000414487.2	37	CCDS30979.1																																																																																			.		0.411	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		C	203832839	-	C	203832838	7	5	62	1	0	1	1	0	0	0	0	0	14912	410	15	0	139	0	SNRPE	1	203832838	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	515484	203832838	45417783	152	12520	123	2									
SNRPE	6635	hgsc.bcm.edu;bcgsc.ca	37	chr1	203832839	203832839	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaatatgcggataGaaggctgtatcattgtgagt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203832839delG	ENST00000414487.2	+	3	175	c.130delG	c.(130-132)gaafs	p.E44fs	SNRPE_ENST00000367208.1_Frame_Shift_Del_p.E4fs|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	44					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATGCGGATAGAAGGCTGTAT	0.408																																					p.E44fs	Ovarian(83;324 1318 17952 32395 39614)	.											.	SNRPE-514	0			c.130delG						.						129	129	129					1																	203832839		2203	4300	6503	SO:0001589	frameshift_variant	6635	exon3			CGGATAGAAGGCT	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.130delG	1.37:g.203832839delG	ENSP00000400591:p.Glu44fs	Somatic	316	0		WXS	Illumina GAIIx	Phase_I	321	0	NM_003094	0	0	0	0	0	B2R5B9|P08578|Q15498|Q5BKT2	Frame_Shift_Del	DEL	ENST00000414487.2	37	CCDS30979.1																																																																																			.		0.408	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		-	203832839	G	-	203832839	7	5	62	1	0	1	0	1	0	0	0	0	14912	943	33	0	140	0	SNRPE	1	203832839	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	1	203832839	45417782	153	12521	123	2									
LGTN	1939	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	206769135	206769135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctttcttcacaatggGctcttgtccgggaagggtca	10	12	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:206769135G>A	ENST00000271764.2	-	13	1649	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	EIF2D_ENST00000472709.2_5'UTR|EIF2D_ENST00000367114.3_Missense_Mutation_p.P357S	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	481					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCACAATGGGCTCTTGTCCG	0.403																																					p.P481S		.											.	EIF2D-92	0			c.C1441T						.						171	162	165					1																	206769135		2203	4300	6503	SO:0001583	missense	1939	exon13			CAATGGGCTCTTG	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1441C>T	1.37:g.206769135G>A	ENSP00000271764:p.Pro481Ser	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	135	66	NM_006893	0	0	33	60	27	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959380	0.92726	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.28069	1.63;1.63	5.82	5.82	0.92795	Translation initiation factor SUI1 (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.79	D;B	0.87578	0.998;0.271	T	0.18398	-1.0338	10	0.10111	T	0.7	-16.1419	19.0895	0.93221	0.0:0.0:1.0:0.0	.	357;481	P41214-2;P41214	.;EIF2D_HUMAN	S	357;481	ENSP00000356081:P357S;ENSP00000271764:P481S	ENSP00000271764:P481S	P	-	1	0	EIF2D	204835758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.748000	0.94277	0.655000	0.94253	CCC	.		0.403	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		A	206769135	G	A	206769135	3	1	62	1	0	0	0	0	1	0	0	0	8789	1203	42	3	325	3	LGTN	1	206769135	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2936296	206769135	42481486	154	12522											
RCOR3	55758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	211462519	211462519	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgcttttattctcttaGggtaatactgaacaacctgt	6	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:211462519G>A	ENST00000367005.4	+	7	687		c.e7-1		RCOR3_ENST00000452621.2_Splice_Site|RCOR3_ENST00000419091.2_Splice_Site|RCOR3_ENST00000367006.4_Splice_Site	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TATTCTCTTAGGGTAATACTG	0.368																																					.		.											.	RCOR3-91	0			c.721-1G>A						.						91	86	88					1																	211462519		2203	4300	6503	SO:0001630	splice_region_variant	55758	exon8			CTCTTAGGGTAAT	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.547-1G>A	1.37:g.211462519G>A		Somatic	191	0		WXS	Illumina GAIIx	Phase_I	204	81	NM_001136224	0	0	0	0	0	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Splice_Site	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159268	0.57368	.	.	ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000534460	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4881	0.67631	0.0:0.0:0.853:0.147	.	.	.	.	.	-1	.	.	.	+	.	.	RCOR3	209529142	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.902000	0.92568	2.639000	0.89480	0.655000	0.94253	.	.		0.368	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	Intron	A	211462519	G	A	211462519	5	1	62	1	0	0	0	0	0	0	1	0	13229	1014	35	3	750	3	RCOR3	1	211462519	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4693384	211462519	37788102	155	12523											
VASH2	79805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	213125126	213125126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaggggggagaaatggTgggcgccatcaggaacgccg	17	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:213125126T>C	ENST00000517399.1	+	1	242	c.242T>C	c.(241-243)gTg>gCg	p.V81A	VASH2_ENST00000366968.4_Missense_Mutation_p.V16A|VASH2_ENST00000366967.2_Intron|VASH2_ENST00000366965.2_Missense_Mutation_p.V81A|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366966.2_Missense_Mutation_p.V16A			Q86V25	VASH2_HUMAN	vasohibin 2	81					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GGAGAAATGGTGGGCGCCATC	0.632																																					p.V81A		.											.	VASH2-90	0			c.T242C						.						34	30	31					1																	213125126		2203	4300	6503	SO:0001583	missense	79805	exon2			AAATGGTGGGCGC	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.242T>C	1.37:g.213125126T>C	ENSP00000428324:p.Val81Ala	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	65	30	NM_024749	0	0	0	0	0	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782502	0.31502	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000490792;ENST00000366965;ENST00000517399	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	N	0.25789	0.76	0.80722	D	1	B;B;B	0.26975	0.037;0.008;0.165	B;B;B	0.26416	0.024;0.007;0.069	T	0.20840	-1.0263	9	0.11182	T	0.66	-14.4872	9.9939	0.41887	0.0:0.0833:0.0:0.9167	.	81;81;81	Q86V25;Q86V25-5;Q86V25-4	VASH2_HUMAN;.;.	A	16;16;16;81;81	.	ENSP00000355932:V81A	V	+	2	0	VASH2	211191749	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.295000	0.59049	1.914000	0.55421	0.460000	0.39030	GTG	.		0.632	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		C	213125126	T	C	213125126	3	2	62	1	0	0	0	0	1	0	0	0	17175	1696	59	4	244	4	VASH2	1	213125126	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1662607	213125126	36125495	156	12524											
RPS6KC1	26750	broad.mit.edu;bcgsc.ca	37	chr1	213277826	213277826	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaaactgttatcgaagagaGaagacaatgtgctgaagacc	11	6	0	6			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:213277826G>T	ENST00000366960.3	+	4	443	c.293G>T	c.(292-294)aGa>aTa	p.R98I	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R86I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	98	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)		ATCGAAGAGAGAAGACAATGT	0.368																																					p.R98I		.											.	RPS6KC1-417	0			c.G293T						.						184	175	178					1																	213277826		2203	4300	6503	SO:0001583	missense	26750	exon4			AAGAGAGAAGACA	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.293G>T	1.37:g.213277826G>T	ENSP00000355927:p.Arg98Ile	Somatic	99	2		WXS	Illumina GAIIx	Phase_I	89	42	NM_012424	0	0	8	10	2	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405690	0.96051	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.64085	-0.08;-0.08	5.53	5.53	0.82687	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90318	0.4342	10	0.87932	D	0	-11.5908	19.8293	0.96628	0.0:0.0:1.0:0.0	.	98;86	Q96S38;B1APS8	KS6C1_HUMAN;.	I	98;86	ENSP00000355927:R98I;ENSP00000355926:R86I	ENSP00000355926:R86I	R	+	2	0	RPS6KC1	211344449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.749000	0.94314	0.655000	0.94253	AGA	.		0.368	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		T	213277826	G	T	213277826	3	4	62	1	0	0	0	0	1	0	0	0	13703	942	33	3	307	3	RPS6KC1	1	213277826	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	152700	213277826	35972795	157	12525											
KCTD3	51133	hgsc.bcm.edu	37	chr1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggcactgcggcagcTtccccgcggcggcggccggc	19	16	0	0	rs2275768	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		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)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3	5	5		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	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.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	12	NM_016121	0	0	0	19	19	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215741053	T	G	215741053	3	3	62	1	0	0	0	0	1	0	0	0	8137	1609	56	5	27	5	KCTD3	1	215741053	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2463227	215741053	33509568	158	12526											
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	216246596	216246596	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacacagatgccaagttaacGacagcaccccgtgtaaattt	8	11	0	1	rs138416665		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:216246596G>A	ENST00000307340.3	-	28	6005	c.5619C>T	c.(5617-5619)gtC>gtT	p.V1873V	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Silent_p.V1873V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1873	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAAGTTAACGACAGCACCCC	0.458										HNSCC(13;0.011)			G|||	1	0.000199681	0	0	5008	,	,		18340	0		0.001	False		,,,				2504	0				p.V1873V		.											.	USH2A-115	0			c.C5619T						.	G		0,4406		0,0,2203	79	65	70		5619	5	1	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1873/5203	216246596	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon28			GTTAACGACAGCA	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.5619C>T	1.37:g.216246596G>A		Somatic	228	3		WXS	Illumina GAIIx	Phase_I	224	94	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			G|1.000;A|0.000		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216246596	G	A	216246596	2	1	62	1	0	0	0	0	0	0	0	1	17085	1045	37	1		1	USH2A	1	216246596	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	505543	216246596	33004025	159	12527											
EPRS	2058	broad.mit.edu	37	chr1	220142206	220142206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttgccacagacacatTtggctccaggctgcagttca	10	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:220142206T>C	ENST00000366923.3	-	32	4750	c.4481A>G	c.(4480-4482)aAa>aGa	p.K1494R	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1494	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)	ACAGACACATTTGGCTCCAGG	0.488																																					p.K1494R		.											.	EPRS-92	0			c.A4481G						.						107	102	104					1																	220142206		2203	4300	6503	SO:0001583	missense	2058	exon32			ACACATTTGGCTC	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.4481A>G	1.37:g.220142206T>C	ENSP00000355890:p.Lys1494Arg	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	246	6	NM_004446	0	0	346	347	1	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274673	0.40194	.	.	ENSG00000136628	ENST00000366923	T	0.08370	3.1	5.66	-4.01	0.04045	Prolyl-tRNA synthetase, class II, C-terminal (3);Prolyl-tRNA synthetase, class II (1);	0.457587	0.26879	N	0.022040	T	0.08268	0.0206	M	0.79343	2.45	0.09310	N	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.24476	-1.0159	10	0.45353	T	0.12	-5.2395	3.3576	0.07174	0.1015:0.3098:0.0995:0.4892	.	1494	P07814	SYEP_HUMAN	R	1494	ENSP00000355890:K1494R	ENSP00000355890:K1494R	K	-	2	0	EPRS	218208829	0.000000	0.05858	0.047000	0.18901	0.975000	0.68041	-0.989000	0.03736	-0.575000	0.05982	0.482000	0.46254	AAA	.		0.488	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220142206	T	C	220142206	3	2	62	1	0	0	0	0	1	0	0	0	5207	1841	64	4	61	4	EPRS	1	220142206	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3895610	220142206	29108415	160	12528											
TAF1A	9015	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	222737423	222737423	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattttctaagtaatgtatgGaattccaacatcaatttatg	6	5	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:222737423G>A	ENST00000352967.4	-	8	1127	c.939C>T	c.(937-939)ttC>ttT	p.F313F	TAF1A_ENST00000350027.4_Silent_p.F313F|TAF1A_ENST00000391882.1_Silent_p.F199F|TAF1A_ENST00000366890.1_Silent_p.F199F	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	313					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GTAATGTATGGAATTCCAACA	0.318																																					p.F313F		.											.	TAF1A-44	0			c.C939T						.						76	79	78					1																	222737423		2200	4299	6499	SO:0001819	synonymous_variant	9015	exon8			TGTATGGAATTCC	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.939C>T	1.37:g.222737423G>A		Somatic	263	0		WXS	Illumina GAIIx	Phase_I	253	85	NM_005681	0	0	2	4	2	B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	ENST00000352967.4	37	CCDS1531.1																																																																																			.		0.318	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		A	222737423	G	A	222737423	2	1	62	1	0	0	0	0	0	0	0	1	15566	1165	41	3		3	TAF1A	1	222737423	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2595217	222737423	26513198	161	12529											
C1orf65	164127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	223568189	223568189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaacaaagtttccagCggtcccaggagatacaccag	10	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:223568189C>T	ENST00000366875.3	+	1	1475	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		458										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGTTTCCAGCGGTCCCAGGA	0.617																																					p.R458W		.											.	C1orf65-91	0			c.C1372T						.						39	41	40					1																	223568189		2203	4300	6503	SO:0001583	missense	164127	exon1			TTCCAGCGGTCCC																												ENST00000366875.3:c.1372C>T	1.37:g.223568189C>T	ENSP00000355840:p.Arg458Trp	Somatic	193	0		WXS	Illumina GAIIx	Phase_I	268	110	NM_152610	0	0	0	0	0	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	7.144	0.582342	0.13749	.	.	ENSG00000178395	ENST00000366875	T	0.26810	1.71	5.7	-4.94	0.03057	.	.	.	.	.	T	0.10852	0.0265	N	0.17474	0.49	0.09310	N	1	P	0.34684	0.463	B	0.26202	0.067	T	0.21861	-1.0233	9	0.42905	T	0.14	.	6.4616	0.21960	0.5681:0.2717:0.0875:0.0728	.	458	Q8N715	CA065_HUMAN	W	458	ENSP00000355840:R458W	ENSP00000355840:R458W	R	+	1	2	C1orf65	221634812	0.000000	0.05858	0.001000	0.08648	0.247000	0.25773	-0.552000	0.06020	-0.588000	0.05882	-1.448000	0.01049	CGG	.		0.617	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223568189	C	T	223568189	3	4	62	1	0	0	0	0	1	0	0	0	2062	759	27	1	1374	1	C1orf65	1	223568189	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	830766	223568189	25682432	162	12530											
CAPN2	824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	223947169	223947169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccgggtcttttctgaaaaGaaagctgactaccagtaggc	10	9	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:223947169G>C	ENST00000295006.5	+	12	1824	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.K427N	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	505	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTCTGAAAAGAAAGCTGACT	0.562																																					p.K505N		.											.	CAPN2-523	0			c.G1515C						.						45	45	45					1																	223947169		2203	4300	6503	SO:0001583	missense	824	exon12			TGAAAAGAAAGCT	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1515G>C	1.37:g.223947169G>C	ENSP00000295006:p.Lys505Asn	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	61	22	NM_001748	0	0	2	5	3	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452633	0.63290	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88741	-2.42;-2.42	5.91	5.91	0.95273	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.043994	0.85682	D	0.000000	D	0.93304	0.7866	M	0.79011	2.435	0.58432	D	0.999997	B;P;D	0.56035	0.112;0.68;0.974	B;P;P	0.62491	0.381;0.725;0.903	D	0.92689	0.6165	10	0.46703	T	0.11	.	13.9012	0.63804	0.0777:0.0:0.9223:0.0	.	427;88;505	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	N	427;505;534	ENSP00000413158:K427N;ENSP00000295006:K505N	ENSP00000295006:K505N	K	+	3	2	CAPN2	222013792	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.086000	0.50159	2.793000	0.96121	0.655000	0.94253	AAG	.		0.562	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		C	223947169	G	C	223947169	3	2	62	1	0	0	0	0	1	0	0	0	2634	933	33	3	1568	3	CAPN2	1	223947169	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	378980	223947169	25303452	163	12531											
PARP1	142	broad.mit.edu;bcgsc.ca	37	chr1	226573266	226573266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatacacttggtccagGcagtgacgtccccagtgcag	11	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:226573266G>A	ENST00000366794.5	-	7	1093	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	317					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGGTCCAGGCAGTGACGTC	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.A317V		.											.	PARP1-727	0			c.C950T						.						122	101	108					1																	226573266		2203	4300	6503	SO:0001583	missense	142	exon7			GTCCAGGCAGTGA	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.950C>T	1.37:g.226573266G>A	ENSP00000355759:p.Ala317Val	Somatic	173	0		WXS	Illumina GAIIx	Phase_I	310	15	NM_001618	0	0	60	64	4	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055272	0.93793	.	.	ENSG00000143799	ENST00000366794	T	0.78481	-1.18	5.45	5.45	0.79879	PADR1 (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	L	0.49350	1.555	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.84713	0.0735	10	0.49607	T	0.09	-3.3368	19.2981	0.94131	0.0:0.0:1.0:0.0	.	317	P09874	PARP1_HUMAN	V	317	ENSP00000355759:A317V	ENSP00000355759:A317V	A	-	2	0	PARP1	224639889	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.621000	0.83083	2.546000	0.85860	0.655000	0.94253	GCC	.		0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		A	226573266	G	A	226573266	3	1	62	1	0	0	0	0	1	0	0	0	11493	1203	42	3	2162	3	PARP1	1	226573266	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2626097	226573266	22677355	164	12532											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	228475560	228475560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctacgccaggagggtgCcatgctggagctggtggtcc	16	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:228475560C>T	ENST00000422127.1	+	36	9754	c.9710C>T	c.(9709-9711)gCc>gTc	p.A3237V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A3237V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3666V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A356V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2084V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A356V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3237	Ig-like 32.				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)				CAGGAGGGTGCCATGCTGGAG	0.617																																					p.A3666V		.											.	OBSCN-403	0			c.C10997T						.						75	84	81					1																	228475560		2135	4249	6384	SO:0001583	missense	84033	exon41			AGGGTGCCATGCT	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.9710C>T	1.37:g.228475560C>T	ENSP00000409493:p.Ala3237Val	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	214	16	NM_001271223	0	0	1	1	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224013	0.39300	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.33;-0.47	5.06	2.91	0.33838	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.350910	0.04710	N	0.417461	T	0.65386	0.2686	L	0.48642	1.525	0.09310	N	1	B;B	0.21225	0.053;0.046	B;B	0.32149	0.141;0.061	T	0.52457	-0.8573	10	0.28530	T	0.3	.	4.6925	0.12788	0.2604:0.5359:0.1289:0.0748	.	3237;3237	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3237;3237;356;356;2084	ENSP00000284548:A3237V;ENSP00000409493:A3237V;ENSP00000355668:A356V;ENSP00000355670:A356V;ENSP00000352613:A2084V	ENSP00000284548:A3237V	A	+	2	0	OBSCN	226542183	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.386000	0.07370	2.352000	0.79861	0.561000	0.74099	GCC	.		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228475560	C	T	228475560	3	4	62	1	0	0	0	0	1	0	0	0	10851	739	26	3	9848	3	OBSCN	1	228475560	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1902294	228475560	20775061	165	12533											
CAPN9	10753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	230921739	230921739	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctacagggatatggatggAaatgtagacattgaccttcc	10	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:230921739A>T	ENST00000271971.2	+	12	1607	c.1494A>T	c.(1492-1494)ggA>ggT	p.G498G	RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.G472G|CAPN9_ENST00000366666.2_Silent_p.G435G|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	498	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATATGGATGGAAATGTAGACA	0.478																																					p.G498G		.											.	CAPN9-91	0			c.A1494T						.						452	446	448					1																	230921739		2203	4300	6503	SO:0001819	synonymous_variant	10753	exon12			GGATGGAAATGTA	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.1494A>T	1.37:g.230921739A>T		Somatic	200	0		WXS	Illumina GAIIx	Phase_I	275	121	NM_006615	0	0	0	0	0	B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	CCDS1586.1																																																																																			.		0.478	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		T	230921739	A	T	230921739	2	4	62	1	0	0	0	0	0	0	0	1	2639	233	9	5		5	CAPN9	1	230921739	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2446179	230921739	18328882	166	12534											
TTC13	79573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231079568	231079568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttctgctcgctgctcaAatacctctggacgatctggt	8	13	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231079568A>G	ENST00000366661.4	-	6	663	c.656T>C	c.(655-657)tTt>tCt	p.F219S	TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	219										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCGCTGCTCAAATACCTCTGG	0.378																																					p.F219S		.											.	TTC13-92	0			c.T656C						.						148	148	148					1																	231079568		2203	4300	6503	SO:0001583	missense	79573	exon6			TGCTCAAATACCT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.656T>C	1.37:g.231079568A>G	ENSP00000355621:p.Phe219Ser	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	43	20	NM_024525	0	0	5	8	3	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857514	0.51376	.	.	ENSG00000143643	ENST00000366661	T	0.38077	1.16	5.6	4.47	0.54385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063526	0.64402	D	0.000003	T	0.31949	0.0813	L	0.43923	1.385	0.80722	D	1	B	0.19331	0.035	B	0.19946	0.027	T	0.09378	-1.0677	10	0.72032	D	0.01	-14.8463	11.5164	0.50524	0.9296:0.0:0.0704:0.0	.	219	Q8NBP0	TTC13_HUMAN	S	219	ENSP00000355621:F219S	ENSP00000355621:F219S	F	-	2	0	TTC13	229146191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.504000	0.60414	0.952000	0.37798	0.477000	0.44152	TTT	.		0.378	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		G	231079568	A	G	231079568	3	3	62	1	0	0	0	0	1	0	0	0	16729	14	1	4	1998	4	TTC13	1	231079568	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	157829	231079568	18171053	167	12535											
TRIM67	440730	ucsc.edu;bcgsc.ca	37	chr1	231349649	231349649	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcatcaacgggcagCagcagggccccacagccttc	9	17	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231349649C>T	ENST00000366653.5	+	9	2212	c.2212C>T	c.(2212-2214)Cag>Tag	p.Q738*	TRIM67_ENST00000449018.3_Nonsense_Mutation_p.Q676*|TRIM67_ENST00000444294.3_Nonsense_Mutation_p.Q736*|TRIM67_ENST00000366652.2_Nonsense_Mutation_p.Q738*			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	738	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)				CAACGGGCAGCAGCAGGGCCC	0.642																																					p.Q738X		.											.	TRIM67-229	0			c.C2212T						.						61	70	67					1																	231349649		2126	4235	6361	SO:0001587	stop_gained	440730	exon9			GGGCAGCAGCAGG	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.2212C>T	1.37:g.231349649C>T	ENSP00000355613:p.Gln738*	Somatic	298	2		WXS	Illumina GAIIx	Phase_I	473	241	NM_001004342	0	0	0	0	0	Q5TER7|Q5TER8|Q7Z4K7	Nonsense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	47	13.636213	0.99754	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6098	0.95600	0.0:1.0:0.0:0.0	.	.	.	.	X	736;738;676;738	.	ENSP00000355612:Q738X	Q	+	1	0	TRIM67	229416272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.714000	0.92807	0.561000	0.74099	CAG	.		0.642	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		T	231349649	C	T	231349649	4	4	62	1	0	0	0	0	0	1	0	0	16588	711	25	3	2246	3	TRIM67	1	231349649	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	270081	231349649	17900972	168	12536											
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231396359	231396359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagccattcggttttgtgCcttcaccctgagcaaagtat	10	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231396359C>T	ENST00000366647.4	+	3	537	c.368C>T	c.(367-369)gCc>gTc	p.A123V	GNPAT_ENST00000366646.3_Missense_Mutation_p.A62V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	123					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CGGTTTTGTGCCTTCACCCTG	0.378																																					p.A123V		.											.	GNPAT-156	0			c.C368T						.						218	225	223					1																	231396359		2203	4300	6503	SO:0001583	missense	8443	exon3			TTTGTGCCTTCAC	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.368C>T	1.37:g.231396359C>T	ENSP00000355607:p.Ala123Val	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	53	22	NM_014236	0	0	10	21	11	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883299	0.91740	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.93426	-3.22;-0.2;-0.19;-0.21	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.79108	0.992;0.77	D	0.96178	0.9128	10	0.59425	D	0.04	-1.7674	19.6239	0.95670	0.0:1.0:0.0:0.0	.	62;123	B4DNM9;O15228	.;GNPAT_HUMAN	V	62;123;62;123	ENSP00000402811:A62V;ENSP00000355607:A123V;ENSP00000355606:A62V;ENSP00000411640:A123V	ENSP00000355606:A62V	A	+	2	0	GNPAT	229462982	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	7.818000	0.86416	2.654000	0.90174	0.462000	0.41574	GCC	.		0.378	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			T	231396359	C	T	231396359	3	4	62	1	0	0	0	0	1	0	0	0	6567	739	26	3	378	3	GNPAT	1	231396359	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	46710	231396359	17854262	169	12537											
EXOC8	149371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231471391	231471391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcttggagttgcttggCaggtttccccacaccttctt	9	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231471391C>T	ENST00000360394.2	-	1	2187	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.A697T|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	701					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTTGCTTGGCAGGTTTCCCC	0.418																																					p.A701T		.											.	EXOC8-91	0			c.G2101A						.						165	155	158					1																	231471391		2203	4300	6503	SO:0001583	missense	149371	exon1			GCTTGGCAGGTTT	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.2101G>A	1.37:g.231471391C>T	ENSP00000353564:p.Ala701Thr	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	139	62	NM_175876	0	0	10	16	6	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897120	0.91962	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77620	-1.11;-1.1	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.81398	-0.0951	10	0.22109	T	0.4	-16.2486	19.5966	0.95541	0.0:1.0:0.0:0.0	.	701	Q8IYI6	EXOC8_HUMAN	T	701;697	ENSP00000353564:A701T;ENSP00000355605:A697T	ENSP00000353564:A701T	A	-	1	0	EXOC8	229538014	1.000000	0.71417	0.957000	0.39632	0.982000	0.71751	7.414000	0.80117	2.698000	0.92095	0.655000	0.94253	GCC	.		0.418	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		T	231471391	C	T	231471391	3	4	62	1	0	0	0	0	1	0	0	0	5327	710	25	3	80	3	EXOC8	1	231471391	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	75032	231471391	17779230	170	12538											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	240255872	240255872	+	Frame_Shift_Del	DEL	G	G	-													ggcctgccgaggctagggtcGggggccggccgatcgccgag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:240255872delG	ENST00000319653.9	+	1	693	c.463delG	c.(463-465)gggfs	p.G156fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	156					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)			GGCTAGGGTCGGGGGCCGGCC	0.667																																					p.G155fs		.											.	FMN2-145	0			c.463delG						.						23	29	27					1																	240255872		2203	4300	6503	SO:0001589	frameshift_variant	56776	exon1			AGGGTCGGGGGCC	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.463delG	1.37:g.240255872delG	ENSP00000318884:p.Gly156fs	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	150	68	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.667	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		-	240255872	G	-	240255872	7	5	62	1	0	1	0	1	0	0	0	0	5972	1116	39	0	465	0	FMN2	1	240255872	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	8784481	240255872	8994749	171	12539											
OR14I1	401994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248844883	248844883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgatgacaatgagctgGggggagcaggtggagaaggc	19	5	0	4	rs201585486		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:248844883G>A	ENST00000342623.3	-	1	746	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAATGAGCTGGGGGGAGCAGG	0.468																																					p.P241P		.											.	OR14I1-46	0			c.C723T						.						94	91	92					1																	248844883		2203	4300	6503	SO:0001819	synonymous_variant	401994	exon1			GAGCTGGGGGGAG		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.723C>T	1.37:g.248844883G>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	141	86	NM_001004734	0	0	0	0	0		Silent	SNP	ENST00000342623.3	37	CCDS31125.1																																																																																			G|0.999;C|0.001		0.468	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		A	248844883	G	A	248844883	2	1	62	1	0	0	0	0	0	0	0	1	10986	1219	43	3		3	OR14I1	1	248844883	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8589011	248844883	405738	172	12540											
SH3BP5L	80851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	249106288	249106288	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagcagactcagggtAtcggtgtcgggggcggggcc	19	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:249106288A>G	ENST00000366472.5	-	7	2222	c.993T>C	c.(991-993)gaT>gaC	p.D331D	SH3BP5L_ENST00000411742.2_Silent_p.D299D|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	331										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)			GACTCAGGGTATCGGTGTCGG	0.697																																					p.D331D		.											.	SH3BP5L-90	0			c.T993C						.						20	26	24					1																	249106288		2196	4295	6491	SO:0001819	synonymous_variant	80851	exon7			CAGGGTATCGGTG	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.993T>C	1.37:g.249106288A>G		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	119	50	NM_030645	0	0	8	20	12	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																			.		0.697	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		G	249106288	A	G	249106288	2	3	62	1	0	0	0	0	0	0	0	1	14293	446	16	4		4	SH3BP5L	1	249106288	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	261405	249106288	144333	173	12541											
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	1983497	1983497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggaagcgcggacatacctCgaacccctttggaccgcgtg	13	13	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:1983497C>T	ENST00000399161.2	-	6	800	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					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)		GGACATACCTCGAACCCCTTT	0.582																																					p.R18Q		.											.	MYT1L-95	0			c.G53A						.						50	58	55					2																	1983497		2010	4177	6187	SO:0001583	missense	23040	exon6			ATACCTCGAACCC	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.53G>A	2.37:g.1983497C>T	ENSP00000382114:p.Arg18Gln	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	108	61	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.666766	0.88251	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.55234	0.53;0.53	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.68659	0.3025	L	0.54323	1.7	0.53005	D	0.999965	D;D	0.69078	0.994;0.997	P;D	0.66847	0.885;0.947	T	0.71262	-0.4645	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	18	ENSP00000382114:R18Q;ENSP00000396103:R18Q	ENSP00000295067:R18Q	R	-	2	0	MYT1L	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA	.		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1983497	C	T	1983497	3	4	62	1	0	0	0	0	1	0	0	0	10145	884	31	1	3581	1	MYT1L	2	1983497	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10		1983497	241215876	174	12542											
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	3193197	3193197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaacagccacgggtcagCcgaggaccagtccacggcat	13	14	1	0	rs374023297		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:3193197C>T	ENST00000382125.4	-	9	1264	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	TSSC1_ENST00000398659.4_Missense_Mutation_p.A385T|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	358										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CACGGGTCAGCCGAGGACCAG	0.622																																					p.A358T	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.G1072A						.	C	THR/ALA	1,4383		0,1,2191	49	40	43		1072	5.1	0.6	2		43	0,8570		0,0,4285	no	missense	TSSC1	NM_003310.2	58	0,1,6476	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	358/388	3193197	1,12953	2192	4285	6477	SO:0001583	missense	7260	exon9			GGTCAGCCGAGGA	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1072G>A	2.37:g.3193197C>T	ENSP00000371559:p.Ala358Thr	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	289	140	NM_003310	0	0	18	46	28	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243465	0.79912	2.28E-4	0.0	ENSG00000032389	ENST00000382125;ENST00000398659	T;T	0.12984	2.63;2.63	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.58969	1.84	0.80722	D	1	D	0.57899	0.981	P	0.56343	0.796	T	0.01266	-1.1401	10	0.56958	D	0.05	-20.5923	17.5094	0.87756	0.0:1.0:0.0:0.0	.	358	Q53HC9	TSSC1_HUMAN	T	358;385	ENSP00000371559:A358T;ENSP00000381652:A385T	ENSP00000371559:A358T	A	-	1	0	TSSC1	3172204	1.000000	0.71417	0.633000	0.29310	0.148000	0.21650	7.664000	0.83830	2.369000	0.80426	0.591000	0.81541	GCT	.		0.622	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		T	3193197	C	T	3193197	3	4	62	1	0	0	0	0	1	0	0	0	16714	739	26	3	95	3	TSSC1	2	3193197	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1209700	3193197	240006176	175	12543											
CMPK2	129607	hgsc.bcm.edu	37	chr2	7005369	7005369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgtggtgcctcctgAcaggcgcccagcagctcgag	16	14	0	1	rs11678810	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1	5008	,	,		10694	1		1	False		,,,				2504	1				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3	4	4		459	1.6	0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		G	7005369	A	G	7005369	2	3	62	1	0	0	0	0	0	0	0	1	3588	273	10	4		4	CMPK2	2	7005369	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3812172	7005369	236194004	176	12544											
NTSR2	23620	hgsc.bcm.edu	37	chr2	11810064	11810064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcgcaggcgccccgcGcgcccggcccgcgccttcag	16	19	1	0	rs11556847		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:11810064G>T	ENST00000306928.5	-	1	226	c.192C>A	c.(190-192)cgC>cgA	p.R64R		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	64					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ggcgccccgcgcgcccggccc	0.731																																					p.R64R		.											.	NTSR2-946	0			c.C192A						.	G		0,3146		0,0,1573	2	3	3		192	2	0	2	dbSNP_120	3	13,6299		0,13,3143	no	coding-synonymous	NTSR2	NM_012344.3		0,13,4716	TT,TG,GG		0.206,0.0,0.1374		64/411	11810064	13,9445	1573	3156	4729	SO:0001819	synonymous_variant	23620	exon1			CCCCGCGCGCCCG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.192C>A	2.37:g.11810064G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_012344	0	0	0	0	0	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																			G|1.000;|0.000		0.731	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			T	11810064	G	T	11810064	2	4	62	1	0	0	0	0	0	0	0	1	10750	1074	38	2		2	NTSR2	2	11810064	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4804695	11810064	231389309	177	12545											
NBAS	51594	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	15694258	15694258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagggagcaaaaaaggtgCcgggctgaaatcacaacaca	11	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:15694258C>T	ENST00000281513.5	-	4	239	c.214G>A	c.(214-216)Gca>Aca	p.A72T	NBAS_ENST00000441750.1_Missense_Mutation_p.A72T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	72					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						AAAAAAGGTGCCGGGCTGAAA	0.368																																					p.A72T		.											.	NBAS-94	0			c.G214A						.						83	82	82					2																	15694258		2203	4300	6503	SO:0001583	missense	51594	exon4			AAGGTGCCGGGCT	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.214G>A	2.37:g.15694258C>T	ENSP00000281513:p.Ala72Thr	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	127	60	NM_015909	0	0	0	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422379	0.43020	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09538	2.97;3.12	5.33	4.25	0.50352	.	0.257486	0.39083	N	0.001474	T	0.07007	0.0178	N	0.12182	0.205	0.20638	N	0.999874	B	0.12630	0.006	B	0.15052	0.012	T	0.26744	-1.0094	10	0.87932	D	0	.	11.8485	0.52397	0.0:0.9004:0.0:0.0996	.	72	A2RRP1	NBAS_HUMAN	T	72	ENSP00000413201:A72T;ENSP00000281513:A72T	ENSP00000281513:A72T	A	-	1	0	NBAS	15611709	1.000000	0.71417	0.991000	0.47740	0.720000	0.41350	1.489000	0.35562	2.493000	0.84123	0.305000	0.20034	GCA	.		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15694258	C	T	15694258	3	4	62	1	0	0	0	0	1	0	0	0	10224	739	26	3	7097	3	NBAS	2	15694258	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3884194	15694258	227505115	178	12546											
SMC6	79677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	17906608	17906608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatctgttcaagttgCgttgctttcatgaagaacta	7	9	4	2	rs144198428	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:17906608C>T	ENST00000448223.2	-	9	911	c.642G>A	c.(640-642)acG>acA	p.T214T	SMC6_ENST00000381272.4_Silent_p.T240T|SMC6_ENST00000402989.1_Silent_p.T214T|SMC6_ENST00000351948.4_Silent_p.T214T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	214					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.T214T(2)		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)					GTTCAAGTTGCGTTGCTTTCA	0.299													C|||	4	0.000798722	0.0023	0	5008	,	,		17397	0		0.001	False		,,,				2504	0				p.T214T		.											.	SMC6-292	2	Substitution - coding silent(2)	kidney(1)|endometrium(1)	c.G642A						.	C	,	6,4398	9.9+/-24.2	0,6,2196	122	103	109		642,642	-2.1	1	2	dbSNP_134	109	11,8579	7.7+/-29.5	0,11,4284	no	coding-synonymous,coding-synonymous	SMC6	NM_001142286.1,NM_024624.5	,	0,17,6480	TT,TC,CC		0.1281,0.1362,0.1308	,	214/1092,214/1092	17906608	17,12977	2202	4295	6497	SO:0001819	synonymous_variant	79677	exon9			AAGTTGCGTTGCT	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.642G>A	2.37:g.17906608C>T		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	32	6	NM_001142286	0	0	5	14	9	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																			C|0.999;T|0.001		0.299	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		T	17906608	C	T	17906608	2	4	62	1	0	0	0	0	0	0	0	1	14832	755	27	1		1	SMC6	2	17906608	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2212350	17906608	225292765	179	12547											
WDR35	57539	ucsc.edu;bcgsc.ca	37	chr2	20174293	20174293	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaacagcaaggcaaggGcaatcaggctccacgtagcc	11	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:20174293G>T	ENST00000345530.3	-	7	787	c.672C>A	c.(670-672)tgC>tgA	p.C224*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.C224*|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	224					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGCAAGGGCAATCAGGCT	0.373																																					p.C224X		.											.	WDR35-91	0			c.C672A						.						69	61	64					2																	20174293		2203	4300	6503	SO:0001587	stop_gained	57539	exon7			GCAAGGGCAATCA	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.672C>A	2.37:g.20174293G>T	ENSP00000314444:p.Cys224*	Somatic	297	3		WXS	Illumina GAIIx	Phase_I	306	127	NM_020779	0	0	1	1	0	B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	36	5.766107	0.96914	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	.	.	.	5.35	0.463	0.16700	.	0.089782	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.2762	10.4315	0.44411	0.4029:0.0:0.5971:0.0	.	.	.	.	X	224	.	ENSP00000281405:C224X	C	-	3	2	WDR35	20037774	0.983000	0.35010	0.980000	0.43619	0.921000	0.55340	0.238000	0.18004	0.080000	0.16959	0.591000	0.81541	TGC	.		0.373	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		T	20174293	G	T	20174293	4	4	62	1	0	0	0	0	0	1	0	0	17338	1195	42	3	2961	3	WDR35	2	20174293	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2267685	20174293	223025080	180	12548											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	21233246	21233246	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagtttttcattaaagttgAttttggcatcatctaatgca	6	5	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:21233246A>T	ENST00000233242.1	-	26	6621	c.6494T>A	c.(6493-6495)aTc>aAc	p.I2165N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2165	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAAGTTGATTTTGGCATC	0.289																																					p.I2165N		.											.	APOB-175	0			c.T6494A						.						56	55	55					2																	21233246		2203	4300	6503	SO:0001583	missense	338	exon26			AAGTTGATTTTGG	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.6494T>A	2.37:g.21233246A>T	ENSP00000233242:p.Ile2165Asn	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	37	15	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447716	0.26074	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.65	5.65	0.86999	.	0.199152	0.35805	N	0.002967	T	0.01254	0.0041	M	0.75447	2.3	0.80722	D	1	B	0.29612	0.251	B	0.26094	0.066	T	0.57802	-0.7748	10	0.36615	T	0.2	.	6.4013	0.21640	0.6288:0.1286:0.0:0.2426	.	2165	P04114	APOB_HUMAN	N	2165	ENSP00000233242:I2165N	ENSP00000233242:I2165N	I	-	2	0	APOB	21086751	0.930000	0.31532	1.000000	0.80357	0.993000	0.82548	0.214000	0.17541	2.147000	0.66899	0.459000	0.35465	ATC	.		0.289	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21233246	A	T	21233246	3	4	62	1	0	0	0	0	1	0	0	0	785	333	12	5	7213	5	APOB	2	21233246	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1058953	21233246	221966127	181	12549											
NCOA1	8648	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	24929918	24929918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacaagtagtgcctgtAataataataaccgatcttat	7	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:24929918A>G	ENST00000406961.1	+	13	2231	c.1579A>G	c.(1579-1581)Aat>Gat	p.N527D	NCOA1_ENST00000405141.1_Missense_Mutation_p.N527D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N527D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N527D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N527D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N527D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N376D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	527	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|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)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTGCCTGTAATAATAATAA	0.428			T	PAX3	alveolar rhadomyosarcoma																																p.N527D		.		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	NCOA1-228	0			c.A1579G						.						89	93	92					2																	24929918		2203	4300	6503	SO:0001583	missense	8648	exon11			GCCTGTAATAATA	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1579A>G	2.37:g.24929918A>G	ENSP00000385216:p.Asn527Asp	Somatic	162	2		WXS	Illumina GAIIx	Phase_I	172	84	NM_147223	0	0	11	22	11	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888042	0.33348	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02158	4.55;4.54;4.42;4.54;4.55;4.54;4.55	5.34	2.87	0.33458	.	0.638827	0.17927	N	0.157300	T	0.02571	0.0078	L	0.50333	1.59	0.27533	N	0.951048	B;B;B;B	0.18310	0.027;0.01;0.002;0.008	B;B;B;B	0.19391	0.025;0.006;0.008;0.004	T	0.29243	-1.0018	10	0.31617	T	0.26	.	6.186	0.20498	0.7468:0.1649:0.0883:0.0	.	527;527;527;376	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	527;527;376;527;527;527;527	ENSP00000385216:N527D;ENSP00000385097:N527D;ENSP00000385195:N376D;ENSP00000444039:N527D;ENSP00000320940:N527D;ENSP00000288599:N527D;ENSP00000379197:N527D	ENSP00000288599:N527D	N	+	1	0	NCOA1	24783422	0.175000	0.23083	1.000000	0.80357	0.991000	0.79684	0.882000	0.28186	2.148000	0.66965	0.533000	0.62120	AAT	.		0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		G	24929918	A	G	24929918	3	3	62	1	0	0	0	0	1	0	0	0	10267	362	13	4	1613	4	NCOA1	2	24929918	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3696672	24929918	218269455	182	12550											
C2orf79	391356	bcgsc.ca	37	chr2	25013384	25013384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggttgctcaagccacaGcatgtggtcaatgttcttct	9	11	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:25013384G>A	ENST00000328379.5	-	2	323	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	PTRHD1_ENST00000487316.1_5'UTR|CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000473706.1_5'Flank	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	107						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TCAAGCCACAGCATGTGGTCA	0.493																																					p.L107L		.											.	PTRHD1-90	0			c.C319T						.						142	122	129					2																	25013384		2203	4300	6503	SO:0001819	synonymous_variant	391356	exon2			GCCACAGCATGTG		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 79"	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.319C>T	2.37:g.25013384G>A		Somatic	119	2		WXS	Illumina GAIIx	Phase_I	138	75	NM_001013663	0	0	81	119	38		Silent	SNP	ENST00000328379.5	37	CCDS33156.1																																																																																			.		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		A	25013384	G	A	25013384	2	1	62	1	0	0	0	0	0	0	0	1	2203	962	34	3		3	C2orf79	2	25013384	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	83466	25013384	218185989	183	12551											
OTOF	9381	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	26707488	26707488	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatggcccacttgtgAtggaactggtgctctgcaat	13	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:26707488A>T	ENST00000272371.2	-	12	1185	c.1059T>A	c.(1057-1059)caT>caA	p.H353Q	OTOF_ENST00000403946.3_Missense_Mutation_p.H353Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	353					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)					CCCACTTGTGATGGAACTGGT	0.612																																					p.H353Q	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.T1059A						.						118	91	100					2																	26707488		2203	4300	6503	SO:0001583	missense	9381	exon12			CTTGTGATGGAAC	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.1059T>A	2.37:g.26707488A>T	ENSP00000272371:p.His353Gln	Somatic	168	2		WXS	Illumina GAIIx	Phase_I	248	103	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904152	0.52333	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80123	-1.34;-1.34	4.84	1.48	0.22813	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.109603	0.64402	D	0.000004	T	0.72028	0.3410	L	0.38531	1.155	0.41011	D	0.985002	P	0.46142	0.873	P	0.45377	0.478	T	0.66492	-0.5910	10	0.35671	T	0.21	-16.3934	9.0029	0.36092	0.2718:0.0:0.7282:0.0	.	353	Q9HC10	OTOF_HUMAN	Q	353	ENSP00000272371:H353Q;ENSP00000385255:H353Q	ENSP00000272371:H353Q	H	-	3	2	OTOF	26560992	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.149000	0.42244	0.319000	0.23209	0.379000	0.24179	CAT	.		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26707488	A	T	26707488	3	4	62	1	0	0	0	0	1	0	0	0	11342	330	12	5	5403	5	OTOF	2	26707488	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1694104	26707488	216491885	184	12552											
DPYSL5	56896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	27121385	27121385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgcttgccaactcagcCagcgtgaggatcctcatcaa	8	13	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27121385C>T	ENST00000288699.6	+	2	176	c.18C>T	c.(16-18)gcC>gcT	p.A6A	DPYSL5_ENST00000401478.1_Silent_p.A6A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	6					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAACTCAGCCAGCGTGAGGA	0.537																																					p.A6A		.											.	DPYSL5-92	0			c.C18T						.						225	205	212					2																	27121385		2203	4300	6503	SO:0001819	synonymous_variant	56896	exon2			CTCAGCCAGCGTG	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.18C>T	2.37:g.27121385C>T		Somatic	395	1		WXS	Illumina GAIIx	Phase_I	513	241	NM_001253724	0	0	0	0	0	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	CCDS1730.1																																																																																			.		0.537	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		T	27121385	C	T	27121385	2	4	62	1	0	0	0	0	0	0	0	1	4764	581	21	3		3	DPYSL5	2	27121385	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	413897	27121385	216077988	185	12553											
SLC5A6	8884	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	27428302	27428302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaccccacaatgataActgccagctgcccgaggaac	10	14	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27428302A>T	ENST00000310574.3	-	7	1123	c.650T>A	c.(649-651)gTt>gAt	p.V217D	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V217D|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	217					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CACAATGATAACTGCCAGCTG	0.592																																					p.V217D		.											.	SLC5A6-92	0			c.T650A						.						76	81	80					2																	27428302		2203	4300	6503	SO:0001583	missense	8884	exon7			ATGATAACTGCCA	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.650T>A	2.37:g.27428302A>T	ENSP00000310208:p.Val217Asp	Somatic	240	1		WXS	Illumina GAIIx	Phase_I	341	135	NM_021095	0	0	0	0	0	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638294	0.67130	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	.	0.070642	0.56097	D	0.000033	D	0.95701	0.8602	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96615	0.9455	10	0.87932	D	0	.	13.6286	0.62181	1.0:0.0:0.0:0.0	.	217	Q9Y289	SC5A6_HUMAN	D	217	ENSP00000310208:V217D;ENSP00000384853:V217D	ENSP00000310208:V217D	V	-	2	0	SLC5A6	27281806	1.000000	0.71417	0.953000	0.39169	0.067000	0.16453	9.168000	0.94781	2.099000	0.63709	0.533000	0.62120	GTT	.		0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		T	27428302	A	T	27428302	3	4	62	1	0	0	0	0	1	0	0	0	14714	43	2	5	1301	5	SLC5A6	2	27428302	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	306917	27428302	215771071	186	12554											
CAD	790	hgsc.bcm.edu;bcgsc.ca	37	chr2	27455435	27455435	+	Frame_Shift_Del	DEL	G	G	-													ttacctatacctaacgtattGgggcaccacccatgacctca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27455435delG	ENST00000403525.1	+	17	2720	c.2576delG	c.(2575-2577)tggfs	p.W859fs	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Frame_Shift_Del_p.W922fs			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)					CTAACGTATTGGGGCACCACC	0.517																																					p.W922fs		.											.	CAD-295	0			c.2765delG						.						194	132	153					2																	27455435		2203	4300	6503	SO:0001589	frameshift_variant	790	exon18			CGTATTGGGGCAC	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.2576delG	2.37:g.27455435delG	ENSP00000384510:p.Trp859fs	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	307	129	NM_004341	0	0	0	0	0	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37																																																																																				.		0.517	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			-	27455435	G	-	27455435	7	5	62	1	0	1	0	1	0	0	0	0	2572	1357	47	0	2835	0	CAD	2	27455435	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	27133	27455435	215743938	187	12555											
PLB1	151056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	28719029	28719029	+	Frame_Shift_Del	DEL	G	G	-													ctggagctgctgctgcttctGgggcaaggtaagcgtgcctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:28719029delG	ENST00000327757.5	+	1	92	c.48delG	c.(46-48)ctgfs	p.L16fs	PLB1_ENST00000422425.2_Frame_Shift_Del_p.L16fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	16					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCTGCTTCTGGGGCAAGGTA	0.592																																					p.L16fs		.											.	PLB1-141	0			c.48delG						.						89	81	84					2																	28719029		2203	4300	6503	SO:0001589	frameshift_variant	151056	exon1			GCTTCTGGGGCAA		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.48delG	2.37:g.28719029delG	ENSP00000330442:p.Leu16fs	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	109	50	NM_001170585	0	0	0	0	0	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	ENST00000327757.5	37	CCDS33168.1																																																																																			.		0.592	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			-	28719029	G	-	28719029	7	5	62	1	0	1	0	1	0	0	0	0	12063	1335	47	0	50	0	PLB1	2	28719029	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	1263594	28719029	214480344	188	12556											
SLC30A6	55676	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32417996	32417996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcttatagtgcagaacgCtttttggaacagcccgagat	9	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:32417996C>T	ENST00000282587.5	+	7	412	c.375C>T	c.(373-375)cgC>cgT	p.R125R	SLC30A6_ENST00000435660.1_Silent_p.R125R|SLC30A6_ENST00000379343.2_Silent_p.R165R|SLC30A6_ENST00000538303.1_Silent_p.R96R|SLC30A6_ENST00000406369.1_Silent_p.R51R|SLC30A6_ENST00000357055.3_5'UTR	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	125					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGCAGAACGCTTTTTGGAAC	0.244																																					p.R165R		.											.	SLC30A6-90	0			c.C495T						.						24	26	25					2																	32417996		2167	4293	6460	SO:0001819	synonymous_variant	55676	exon8			AGAACGCTTTTTG	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.375C>T	2.37:g.32417996C>T		Somatic	75	1		WXS	Illumina GAIIx	Phase_I	54	23	NM_001193513	0	0	0	0	0	A5YM45|B7Z901|Q8N5C9|Q96NC3	Silent	SNP	ENST00000282587.5	37	CCDS1780.1																																																																																			.		0.244	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			T	32417996	C	T	32417996	2	4	62	1	0	0	0	0	0	0	0	1	14604	784	28	3		3	SLC30A6	2	32417996	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3698967	32417996	210781377	189	12557											
CRIM1	51232	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	36740805	36740805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgatgggtgccgggaatgCtactgtctcaatggacggga	15	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:36740805C>T	ENST00000280527.2	+	11	2254	c.1887C>T	c.(1885-1887)tgC>tgT	p.C629C	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	629	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCGGGAATGCTACTGTCTCA	0.582																																					p.C629C		.											.	CRIM1-118	0			c.C1887T						.						94	87	89					2																	36740805		2203	4300	6503	SO:0001819	synonymous_variant	51232	exon11			GGAATGCTACTGT	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1887C>T	2.37:g.36740805C>T		Somatic	209	2		WXS	Illumina GAIIx	Phase_I	200	87	NM_016441	0	0	12	13	1	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																			.		0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		T	36740805	C	T	36740805	2	4	62	1	0	0	0	0	0	0	0	1	3880	805	28	3		3	CRIM1	2	36740805	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4322809	36740805	206458568	190	12558											
STRN	6801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	37096725	37096725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgttttctgtaaatTccacatttttaatgtgtgat	9	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:37096725T>A	ENST00000263918.4	-	11	1479	c.1471A>T	c.(1471-1473)Aat>Tat	p.N491Y	STRN_ENST00000379213.2_Missense_Mutation_p.N442Y|RNU6-577P_ENST00000516947.1_RNA	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	491					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)				TTCTGTAAATTCCACATTTTT	0.343																																					p.N491Y		.											.	STRN-91	0			c.A1471T						.						66	61	63					2																	37096725		2203	4300	6503	SO:0001583	missense	6801	exon11			GTAAATTCCACAT	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.1471A>T	2.37:g.37096725T>A	ENSP00000263918:p.Asn491Tyr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	95	44	NM_003162	0	0	9	17	8	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642986	0.87859	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.61627	0.09;0.09	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.76597	-0.2901	10	0.87932	D	0	-25.7456	15.2237	0.73333	0.0:0.0:0.0:1.0	.	442;491	O43815-2;O43815	.;STRN_HUMAN	Y	491;466;442	ENSP00000263918:N491Y;ENSP00000368513:N442Y	ENSP00000263918:N491Y	N	-	1	0	STRN	36950229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.031000	0.88826	1.997000	0.58415	0.477000	0.44152	AAT	.		0.343	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			A	37096725	T	A	37096725	3	1	62	1	0	0	0	0	1	0	0	0	15376	1783	62	5	903	5	STRN	2	37096725	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	355920	37096725	206102648	191	12559											
MAP4K3	8491	hgsc.bcm.edu;bcgsc.ca	37	chr2	39487811	39487812	+	Frame_Shift_Ins	INS	-	-	A													caaatcgaaccacttggttgINSaagtctctacctctactgac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:39487811_39487812insA	ENST00000263881.3	-	29	2567_2568	c.2243_2244insT	c.(2242-2244)ttcfs	p.F748fs	MAP4K3_ENST00000437545.1_Frame_Shift_Ins_p.F664fs|MAP4K3_ENST00000341681.5_Frame_Shift_Ins_p.F727fs|MAP4K3_ENST00000536018.1_Frame_Shift_Ins_p.F301fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	748	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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)				CCACTTGGTTGAAGTCTCTACC	0.376																																					p.F748fs		.											.	MAP4K3-550	0			c.2244_2245insT						.																																			SO:0001589	frameshift_variant	8491	exon29			TTGGTTGAAGTCT	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.2244dupT	2.37:g.39487813_39487813dupA	ENSP00000263881:p.Phe748fs	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	102	43	NM_003618	0	0	0	0	0	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Frame_Shift_Ins	INS	ENST00000263881.3	37	CCDS1803.1																																																																																			.		0.376	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39487812	-	A	39487811	7	5	62	1	0	1	1	0	0	0	0	0	9299	1281	45	0	464	0	MAP4K3	2	39487811	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	2391086	39487811	203711562	192	12560											
ABCG5	64240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	44047175	44047175	+	Frame_Shift_Del	DEL	G	G	-													tagaaattcaccaattaagtGgggggccaagagagcagcag					rs199984328	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:44047175delG	ENST00000260645.1	-	11	1667	c.1528delC	c.(1528-1530)cacfs	p.H510fs	ABCG5_ENST00000405322.1_Frame_Shift_Del_p.H339fs|ABCG5_ENST00000543989.1_Frame_Shift_Del_p.H115fs	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	510	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCAATTAAGTGGGGGGCCAAG	0.463																																					p.H510fs		.											.	ABCG5-92	0			c.1528delC	GRCh37	CM074664	ABCG5	M		.						73	74	74					2																	44047175		2203	4300	6503	SO:0001589	frameshift_variant	64240	exon11			TTAAGTGGGGGGC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1528delC	2.37:g.44047175delG	ENSP00000260645:p.His510fs	Somatic	233	0		WXS	Illumina GAIIx	Phase_I	243	107	NM_022436	0	0	0	0	0	Q2T9G2|Q96QZ2|Q96QZ3	Frame_Shift_Del	DEL	ENST00000260645.1	37	CCDS1814.1																																																																																			.		0.463	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		-	44047175	G	-	44047175	7	5	62	1	0	1	0	1	0	0	0	0	71	1348	47	0	439	0	ABCG5	2	44047175	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	4559364	44047175	199152198	193	12561											
ATP6V1E2	90423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	46739273	46739273	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcggctttccaaggtatttGaaacctttattctctgattg	8	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:46739273G>A	ENST00000306448.4	-	2	1691	c.578C>T	c.(577-579)tCa>tTa	p.S193L	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.S193L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	193					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGTATTTGAAACCTTTAT	0.448																																					p.S193L		.											.	ATP6V1E2-70	0			c.C578T						.						125	128	127					2																	46739273		2203	4300	6503	SO:0001583	missense	90423	exon2			GTATTTGAAACCT	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.578C>T	2.37:g.46739273G>A	ENSP00000304891:p.Ser193Leu	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	111	41	NM_080653	0	0	4	6	2		Missense_Mutation	SNP	ENST00000306448.4	37	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640456	0.29157	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.18	2.32	0.28847	.	0.189481	0.47852	D	0.000213	T	0.59662	0.2210	M	0.87758	2.905	0.52099	D	0.999941	P	0.41848	0.763	B	0.42163	0.378	T	0.60156	-0.7318	9	0.54805	T	0.06	-2.1179	5.6045	0.17371	0.1071:0.2015:0.6914:0.0	.	193	Q96A05	VATE2_HUMAN	L	193	.	ENSP00000304891:S193L	S	-	2	0	ATP6V1E2	46592777	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	3.366000	0.52343	0.675000	0.31264	-0.142000	0.14014	TCA	.		0.448	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		A	46739273	G	A	46739273	3	1	62	1	0	0	0	0	1	0	0	0	1185	1294	45	3	106	3	ATP6V1E2	2	46739273	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2692098	46739273	196460100	194	12562											
PSME4	23198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	54152700	54152700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttctttggaacattgGgtgaggattgtactaaacgt	10	4	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:54152700G>A	ENST00000404125.1	-	14	1840	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	595					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)			TGGAACATTGGGTGAGGATTG	0.343																																					p.T595T		.											.	PSME4-275	0			c.C1785T						.						138	126	130					2																	54152700		2203	4300	6503	SO:0001819	synonymous_variant	23198	exon14			ACATTGGGTGAGG	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.1785C>T	2.37:g.54152700G>A		Somatic	119	0		WXS	Illumina GAIIx	Phase_I	121	57	NM_014614	0	0	20	31	11	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			.		0.343	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54152700	G	A	54152700	2	1	62	1	0	0	0	0	0	0	0	1	12751	1219	43	3		3	PSME4	2	54152700	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7413427	54152700	189046673	195	12563											
FAM161A	84140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	62067294	62067294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaactggattggctcggAatttcttcttatactctgga	10	8	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:62067294A>G	ENST00000405894.3	-	3	946	c.845T>C	c.(844-846)tTc>tCc	p.F282S	FAM161A_ENST00000404929.1_Missense_Mutation_p.F282S	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	282					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTGGCTCGGAATTTCTTCTT	0.388																																					p.F282S		.											.	FAM161A-136	0			c.T845C						.						159	146	150					2																	62067294		1839	4087	5926	SO:0001583	missense	84140	exon3			GCTCGGAATTTCT		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.845T>C	2.37:g.62067294A>G	ENSP00000385893:p.Phe282Ser	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	51	29	NM_032180	0	0	2	2	0	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506273	0.85282	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.44482	0.92;0.92	5.28	5.28	0.74379	.	0.049983	0.85682	D	0.000000	T	0.69886	0.3161	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-6.9261	14.893	0.70623	1.0:0.0:0.0:0.0	.	282;282	Q3B820;Q3B820-3	F161A_HUMAN;.	S	282	ENSP00000385158:F282S;ENSP00000385893:F282S	ENSP00000385158:F282S	F	-	2	0	FAM161A	61920798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.491000	0.90468	1.981000	0.57761	0.460000	0.39030	TTC	.		0.388	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		G	62067294	A	G	62067294	3	3	62	1	0	0	0	0	1	0	0	0	5491	246	9	4	1153	4	FAM161A	2	62067294	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	7914594	62067294	181132079	196	12564											
AFTPH	54812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	64780103	64780103	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agacaatattaacaaagtcaGacctaaaacagacttctgat	5	8	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:64780103G>T	ENST00000422803.1	+	2	1809	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	AFTPH_ENST00000409933.1_Missense_Mutation_p.D499Y|AFTPH_ENST00000409183.1_Missense_Mutation_p.D130Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D499Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D499Y|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	499					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AACAAAGTCAGACCTAAAACA	0.373																																					p.D499Y		.											.	AFTPH-70	0			c.G1495T						.						88	91	90					2																	64780103		2203	4300	6503	SO:0001583	missense	54812	exon2			AAGTCAGACCTAA	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1495G>T	2.37:g.64780103G>T	ENSP00000397726:p.Asp499Tyr	Somatic	78	1		WXS	Illumina GAIIx	Phase_I	55	22	NM_017657	0	0	5	9	4	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	13.06	2.123406	0.37436	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.52754	1.68;1.67;1.67;1.67;0.65	5.76	3.97	0.46021	.	0.244489	0.40222	N	0.001156	T	0.57562	0.2062	M	0.62723	1.935	0.37419	D	0.913541	P;P;D;D	0.60575	0.731;0.731;0.988;0.988	P;P;P;P	0.56700	0.549;0.549;0.804;0.804	T	0.65409	-0.6175	10	0.72032	D	0.01	-0.2913	10.8329	0.46671	0.2113:0.0:0.7887:0.0	.	499;499;499;499	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	499;499;499;499;130	ENSP00000238856:D499Y;ENSP00000397726:D499Y;ENSP00000238855:D499Y;ENSP00000387071:D499Y;ENSP00000386913:D130Y	ENSP00000238855:D499Y	D	+	1	0	AFTPH	64633607	1.000000	0.71417	0.988000	0.46212	0.882000	0.50991	2.929000	0.48916	0.895000	0.36342	0.650000	0.86243	GAC	.		0.373	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		T	64780103	G	T	64780103	3	4	62	1	0	0	0	0	1	0	0	0	364	942	33	3	1497	3	AFTPH	2	64780103	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2712809	64780103	178419270	197	12565											
WDR92	116143	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	68368892	68368892	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccatattagcaacaggatCatctttttgccttgggtccc	7	11	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:68368892C>T	ENST00000295121.6	-	4	567	c.451G>A	c.(451-453)Gat>Aat	p.D151N	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.D151N|WDR92_ENST00000406245.2_Missense_Mutation_p.D50N	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	151					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						GCAACAGGATCATCTTTTTGC	0.358																																					p.D151N		.											.	WDR92-68	0			c.G451A						.						218	206	210					2																	68368892		2203	4300	6503	SO:0001583	missense	116143	exon4			CAGGATCATCTTT	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.451G>A	2.37:g.68368892C>T	ENSP00000295121:p.Asp151Asn	Somatic	170	0		WXS	Illumina GAIIx	Phase_I	158	10	NM_001256476	0	0	17	18	1	Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383089	0.42207	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.65178	1.62;1.62;-0.14	5.71	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.402514	0.23585	N	0.046616	T	0.34164	0.0888	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29549	-1.0008	10	0.20046	T	0.44	.	4.2483	0.10682	0.0:0.6963:0.0:0.3037	.	151	Q96MX6	WDR92_HUMAN	N	151;50;151	ENSP00000295121:D151N;ENSP00000384518:D50N;ENSP00000386746:D151N	ENSP00000295121:D151N	D	-	1	0	WDR92	68222396	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	3.352000	0.52239	2.861000	0.98227	0.650000	0.86243	GAT	.		0.358	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		T	68368892	C	T	68368892	3	4	62	1	0	0	0	0	1	0	0	0	17388	826	29	3	642	3	WDR92	2	68368892	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3588789	68368892	174830481	198	12566											
AAK1	22848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	69746290	69746290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggctgcttggcctgAgtttgcggcagaggctggct	17	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:69746290A>G	ENST00000409085.4	-	12	1669	c.1293T>C	c.(1291-1293)acT>acC	p.T431T	AAK1_ENST00000406297.3_Silent_p.T431T|AAK1_ENST00000409068.1_Silent_p.T431T|SNORA36C_ENST00000384289.1_RNA|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	431	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						GCTTGGCCTGAGTTTGCGGCA	0.617																																					p.T431T		.											.	AAK1-333	0			c.T1293C						.						27	36	33					2																	69746290		2063	4213	6276	SO:0001819	synonymous_variant	22848	exon12			GGCCTGAGTTTGC	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.1293T>C	2.37:g.69746290A>G		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	102	43	NM_014911	0	0	3	11	8	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																			.		0.617	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		G	69746290	A	G	69746290	2	3	62	1	0	0	0	0	0	0	0	1	16	291	11	4		4	AAK1	2	69746290	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1377398	69746290	173453083	199	12567											
EXOC6B	23233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	72742236	72742236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcggtagtaattcTcaaatgtttcccgggcaccc	8	11	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:72742236T>A	ENST00000272427.6	-	9	1065	c.935A>T	c.(934-936)gAg>gTg	p.E312V	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E312V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	312					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTAGTAATTCTCAAATGTTTC	0.398																																					p.E312V		.											.	EXOC6B-68	0			c.A935T						.						69	69	69					2																	72742236		1841	4087	5928	SO:0001583	missense	23233	exon9			TAATTCTCAAATG	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.935A>T	2.37:g.72742236T>A	ENSP00000272427:p.Glu312Val	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	88	46	NM_015189	0	0	6	20	14	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373962	0.82573	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30714	1.52;1.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.86178	2.8	0.80722	D	1	D;D	0.65815	0.981;0.995	D;D	0.69824	0.966;0.963	T	0.63708	-0.6576	10	0.52906	T	0.07	.	13.7186	0.62712	0.0:0.0:0.0:1.0	.	312;312	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	V	312	ENSP00000272427:E312V;ENSP00000386698:E312V	ENSP00000272427:E312V	E	-	2	0	EXOC6B	72595744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.102000	0.63906	0.528000	0.53228	GAG	.		0.398	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		A	72742236	T	A	72742236	3	1	62	1	0	0	0	0	1	0	0	0	5325	1551	54	5	1556	5	EXOC6B	2	72742236	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2995946	72742236	170457137	200	12568											
EGR4	1961	broad.mit.edu;mdanderson.org	37	chr2	73518917	73518917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcaagcgaaggccttggCgtgcggccgcgggcagaagc	19	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:73518917C>T	ENST00000545030.1	-	2	1512	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	EGR4_ENST00000436467.2_Missense_Mutation_p.A377T	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	480					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						AAGGCCTTGGCGTGCGGCCGC	0.716																																					p.A480T		.											.	EGR4-90	0			c.G1438A						.						17	17	17					2																	73518917		2199	4297	6496	SO:0001583	missense	1961	exon2			CCTTGGCGTGCGG		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.1438G>A	2.37:g.73518917C>T	ENSP00000445626:p.Ala480Thr	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	30	15	NM_001965	0	0	0	0	0	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499579	0.64298	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.14266	2.52;2.84	4.79	3.9	0.45041	.	0.371949	0.22576	N	0.058264	T	0.06962	0.0177	N	0.08118	0	0.28791	N	0.899298	P;P	0.40931	0.614;0.733	B;B	0.33339	0.078;0.162	T	0.08086	-1.0739	10	0.72032	D	0.01	-5.9107	13.1801	0.59649	0.161:0.839:0.0:0.0	.	377;480	Q05215;G3V1T5	EGR4_HUMAN;.	T	480;377	ENSP00000445626:A480T;ENSP00000419687:A377T	ENSP00000419687:A377T	A	-	1	0	EGR4	73372425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.549000	0.60726	1.220000	0.43490	0.655000	0.94253	GCC	.		0.716	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		T	73518917	C	T	73518917	3	4	62	1	0	0	0	0	1	0	0	0	4988	768	27	1	335	1	EGR4	2	73518917	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	776681	73518917	169680456	201	12569											
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	73717935	73717935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaccattctccccttcCtcaaggtcaggattctatag	6	12	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:73717935C>A	ENST00000264448.6	+	10	8957	c.8846C>A	c.(8845-8847)cCt>cAt	p.P2949H	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2907H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2949					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						TCTCCCCTTCCTCAAGGTCAG	0.428																																					p.P2949H		.											.	ALMS1-142	0			c.C8846A						.						169	156	160					2																	73717935		1879	4103	5982	SO:0001583	missense	7840	exon10			CCCTTCCTCAAGG	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.8846C>A	2.37:g.73717935C>A	ENSP00000264448:p.Pro2949His	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	57	27	NM_015120	0	0	2	4	2	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	c	9.499	1.102607	0.20632	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.14893	2.48;2.47	4.78	2.99	0.34606	.	0.600319	0.15197	N	0.275244	T	0.30978	0.0782	L	0.54323	1.7	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.66351	0.943;0.943;0.943	T	0.04373	-1.0956	10	0.87932	D	0	.	7.3369	0.26615	0.0:0.8069:0.0:0.1931	.	2949;2907;2949	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2907;2949	ENSP00000386627:P2907H;ENSP00000264448:P2949H	ENSP00000264448:P2949H	P	+	2	0	ALMS1	73571443	0.037000	0.19845	0.007000	0.13788	0.191000	0.23601	0.547000	0.23299	0.935000	0.37341	0.650000	0.86243	CCT	.		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73717935	C	A	73717935	3	1	62	1	0	0	0	0	1	0	0	0	535	681	24	3	8884	3	ALMS1	2	73717935	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	199018	73717935	169481438	202	12570											
CCDC142	84865	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	74709403	74709403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggctcccggccgagagCgcgaagctgcatctcgatga	16	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74709403C>T	ENST00000393965.3	-	1	958	c.562G>A	c.(562-564)Gct>Act	p.A188T	TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_Intron|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.A188T|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	188										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CGGCCGAGAGCGCGAAGCTGC	0.667																																					p.A188T		.											.	CCDC142-68	0			c.G562A						.						20	29	26					2																	74709403		2196	4296	6492	SO:0001583	missense	84865	exon1			CGAGAGCGCGAAG	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.562G>A	2.37:g.74709403C>T	ENSP00000377537:p.Ala188Thr	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	163	73	NM_032779	0	0	0	1	1	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	C	10.33	1.319327	0.23994	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.08896	3.04;3.04	4.4	0.871	0.19107	.	0.538297	0.16967	N	0.192248	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.12837	0.008;0.008;0.008	T	0.36138	-0.9760	10	0.33940	T	0.23	-0.0089	3.5328	0.07784	0.3589:0.4686:0.0:0.1724	.	188;188;188	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	T	188	ENSP00000377537:A188T;ENSP00000290418:A188T	ENSP00000290418:A188T	A	-	1	0	CCDC142	74562911	0.000000	0.05858	0.004000	0.12327	0.387000	0.30353	-0.092000	0.11129	0.038000	0.15604	0.561000	0.74099	GCT	.		0.667	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		T	74709403	C	T	74709403	3	4	62	1	0	0	0	0	1	0	0	0	2783	768	27	1	1705	1	CCDC142	2	74709403	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	991468	74709403	168489970	203	12571											
TTC31	64427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	74720124	74720124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttccccatgctgagctgGcaccctcaggcctaccttcc	7	19	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74720124G>A	ENST00000233623.5	+	13	1346	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	447										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCTGAGCTGGCACCCTCAGG	0.607																																					p.A447T		.											.	TTC31-90	0			c.G1339A						.						129	138	135					2																	74720124		2117	4243	6360	SO:0001583	missense	64427	exon13			GAGCTGGCACCCT	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1339G>A	2.37:g.74720124G>A	ENSP00000233623:p.Ala447Thr	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	187	81	NM_022492	0	0	7	24	17	Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.030195|2.030195	0.35797|0.35797	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000233623|ENST00000414247	T|.	0.61040|.	0.14|.	3.62|3.62	-0.333|-0.333	0.12671|0.12671	.|.	1.309690|.	0.05054|.	N|.	0.478625|.	T|.	0.15739|.	0.0379|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.002|.	T|.	0.29181|.	-1.0020|.	10|.	0.49607|.	T|.	0.09|.	.|.	6.2628|6.2628	0.20910|0.20910	0.4802:0.0:0.5198:0.0|0.4802:0.0:0.5198:0.0	.|.	415;447|.	Q86XF2;Q49AM3|.	.;TTC31_HUMAN|.	T|X	447|173	ENSP00000233623:A447T|.	ENSP00000233623:A447T|.	A|W	+|+	1|3	0|0	TTC31|TTC31	74573632|74573632	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.158000|0.158000	0.22134|0.22134	-0.308000|-0.308000	0.08156|0.08156	-0.201000|-0.201000	0.10284|0.10284	0.484000|0.484000	0.47621|0.47621	GCA|TGG	.		0.607	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		A	74720124	G	A	74720124	3	1	62	1	0	0	0	0	1	0	0	0	16749	1203	42	3	1389	3	TTC31	2	74720124	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	10721	74720124	168479249	204	12572											
HK2	3099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	75104357	75104357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttatcctggtgaagatgGccaaggaggagctgctcttt	14	8	1	2	rs28363015	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:75104357G>A	ENST00000290573.2	+	8	1540	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	HK2_ENST00000409174.1_Missense_Mutation_p.A286T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	314	Hexokinase type-2 1.|Regulatory.		A -> P (in dbSNP:rs28363015). {ECO:0000269|Ref.4}.|A -> V. {ECO:0000269|PubMed:7883120}.		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						GGTGAAGATGGCCAAGGAGGA	0.522																																					p.A314T		.											.	HK2-252	0			c.G940A						.						201	203	202					2																	75104357		2203	4300	6503	SO:0001583	missense	3099	exon8			AAGATGGCCAAGG		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.940G>A	2.37:g.75104357G>A	ENSP00000290573:p.Ala314Thr	Somatic	61	1		WXS	Illumina GAIIx	Phase_I	89	43	NM_000189	0	0	28	67	39	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353221	0.61293	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	T;T	0.11604	2.76;2.76	5.07	4.19	0.49359	Hexokinase, C-terminal (1);	0.203652	0.52532	N	0.000078	T	0.11324	0.0276	L	0.37561	1.115	0.80722	D	1	P	0.40731	0.728	B	0.43658	0.426	T	0.17501	-1.0367	10	0.27082	T	0.32	-23.182	11.3571	0.49621	0.0878:0.0:0.9122:0.0	.	314	P52789	HXK2_HUMAN	T	314;314;286	ENSP00000290573:A314T;ENSP00000387140:A286T	ENSP00000290573:A314T	A	+	1	0	HK2	74957865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.606000	0.67641	1.503000	0.48686	0.655000	0.94253	GCC	G|0.952;C|0.048		0.522	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		A	75104357	G	A	75104357	3	1	62	1	0	0	0	0	1	0	0	0	7218	1203	42	3	970	3	HK2	2	75104357	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	384233	75104357	168095016	205	12573											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	84771614	84771614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaaaaaatttgttcaTtgttaatcctgtatgtattt	4	5	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:84771614T>G	ENST00000237449.6	+	4	928	c.920T>G	c.(919-921)aTt>aGt	p.I307S	DNAH6_ENST00000398278.2_Missense_Mutation_p.I307S|DNAH6_ENST00000389394.3_Missense_Mutation_p.I307S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	307	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						AATTTGTTCATTGTTAATCCT	0.303																																					p.I307S		.											.	DNAH6-69	0			c.T920G						.						15	12	13					2																	84771614		691	1578	2269	SO:0001583	missense	1768	exon5			TGTTCATTGTTAA	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.920T>G	2.37:g.84771614T>G	ENSP00000237449:p.Ile307Ser	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	33	18	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115480	0.77323	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.27890	1.64;1.78;1.64	5.34	5.34	0.76211	.	.	.	.	.	T	0.31009	0.0783	L	0.55834	1.745	0.42417	D	0.992628	B	0.18310	0.027	B	0.23150	0.044	T	0.07443	-1.0772	8	.	.	.	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	307	Q9C0G6	DYH6_HUMAN	S	307	ENSP00000374045:I307S;ENSP00000381326:I307S;ENSP00000237449:I307S	.	I	+	2	0	DNAH6	84625125	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.794000	0.69067	2.138000	0.66242	0.482000	0.46254	ATT	.		0.303	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84771614	T	G	84771614	3	3	62	1	0	0	0	0	1	0	0	0	4619	1493	52	5	934	5	DNAH6	2	84771614	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	9667257	84771614	158427759	206	12574											
IMMT	10989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	86371958	86371958	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaatgcctccactgaaagCcagagttggtgggcttttct	10	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:86371958C>T	ENST00000410111.3	-	15	2097	c.1710G>A	c.(1708-1710)tgG>tgA	p.W570*	IMMT_ENST00000409051.2_Nonsense_Mutation_p.W523*|IMMT_ENST00000449247.2_Nonsense_Mutation_p.W559*|IMMT_ENST00000254636.5_Nonsense_Mutation_p.W471*|IMMT_ENST00000442664.2_Nonsense_Mutation_p.W569*	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	570					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACTGAAAGCCAGAGTTGGT	0.463																																					p.W570X		.											.	IMMT-91	0			c.G1710A						.						64	60	61					2																	86371958		1898	4119	6017	SO:0001587	stop_gained	10989	exon15			TGAAAGCCAGAGT	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1710G>A	2.37:g.86371958C>T	ENSP00000387262:p.Trp570*	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	63	30	NM_006839	0	0	101	283	182	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Nonsense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.691071|5.691071	0.96793|0.96793	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000419070|ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.57051|.	0.2027|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46119|.	-0.9214|.	4|.	.|0.11182	.|T	.|0.66	-5.419|-5.419	18.8056|18.8056	0.92035|0.92035	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|471;559;570;569;523;559;538;471	.|.	.|ENSP00000254636:W471X	A|W	-|-	1|3	0|0	IMMT|IMMT	86225469|86225469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.602000|7.602000	0.82796|0.82796	2.687000|2.687000	0.91594|0.91594	0.644000|0.644000	0.83932|0.83932	GCT|TGG	.		0.463	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		T	86371958	C	T	86371958	4	4	62	1	0	0	0	0	0	1	0	0	7745	740	26	3	570	3	IMMT	2	86371958	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1600344	86371958	156827415	207	12575											
KDM3A	55818	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	86711133	86711133	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtgtctggagtgcaTcataaattgaactctgaact	11	6	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:86711133T>A	ENST00000409556.1	+	20	3311	c.2946T>A	c.(2944-2946)caT>caA	p.H982Q	KDM3A_ENST00000542128.1_Missense_Mutation_p.H930Q|KDM3A_ENST00000312912.5_Missense_Mutation_p.H982Q|KDM3A_ENST00000409064.1_Missense_Mutation_p.H982Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	982					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						CTGGAGTGCATCATAAATTGA	0.443																																					p.H982Q	NSCLC(96;1150 1523 6936 46253 49736)	.											.	KDM3A-291	0			c.T2946A						.						93	90	91					2																	86711133		2203	4300	6503	SO:0001583	missense	55818	exon19			AGTGCATCATAAA	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.2946T>A	2.37:g.86711133T>A	ENSP00000386660:p.His982Gln	Somatic	109	1		WXS	Illumina GAIIx	Phase_I	127	53	NM_001146688	1	0	18	24	5	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073843	0.55646	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.82	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	L	0.37697	1.125	0.43564	D	0.995881	P;B	0.41546	0.754;0.409	P;B	0.49829	0.623;0.131	T	0.57888	-0.7733	10	0.33940	T	0.23	.	8.1729	0.31264	0.0:0.2944:0.0:0.7056	.	930;982	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Q	982;982;982;982;930	ENSP00000386660:H982Q;ENSP00000323659:H982Q;ENSP00000386516:H982Q;ENSP00000438324:H930Q	ENSP00000323659:H982Q	H	+	3	2	KDM3A	86564644	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	0.074000	0.14662	0.145000	0.18977	0.533000	0.62120	CAT	.		0.443	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		A	86711133	T	A	86711133	3	1	62	1	0	0	0	0	1	0	0	0	8153	1432	50	5	3016	5	KDM3A	2	86711133	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	339175	86711133	156488240	208	12576											
CD8B	926	hgsc.bcm.edu	37	chr2	87088964	87088964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagctgcgcggccaAgaggagccacagccgcggcc	14	16	1	1	rs62146888	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000331469.2_Silent_p.L9L|CD8B_ENST00000393761.2_Silent_p.L9L|CD8B_ENST00000393759.2_Silent_p.L9L|AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000431506.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		.											.	CD8B-92	0			c.T25C						.						1	1	1					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		G	87088964	A	G	87088964	2	3	62	1	0	0	0	0	0	0	0	1	3052	69	3	4		4	CD8B	2	87088964	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	377831	87088964	156110409	209	12577											
EIF2AK3	9451	broad.mit.edu	37	chr2	88857349	88857349	+	Frame_Shift_Del	DEL	T	T	-													agacctctgtctgagcactgTttttcctggaaagtccaagt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:88857349delT	ENST00000303236.3	-	17	3557	c.3256delA	c.(3256-3258)acafs	p.T1086fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.T935fs|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1086					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CTGAGCACTGTTTTTCCTGGA	0.453																																					p.T1086fs	GBM(138;671 1851 16235 39058 45249)	.											.	EIF2AK3-361	0			c.3256delA						.						249	235	240					2																	88857349		2203	4300	6503	SO:0001589	frameshift_variant	9451	exon17			GCACTGTTTTTCC	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3256delA	2.37:g.88857349delT	ENSP00000307235:p.Thr1086fs	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	275	7	NM_004836	0	0	0	0	0	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL	ENST00000303236.3	37	CCDS33241.1																																																																																			.		0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		-	88857349	T	-	88857349	7	5	62	1	0	1	0	1	0	0	0	0	5012	1725	60	0	98	0	EIF2AK3	2	88857349	Frame_Shift_Del	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	1768385	88857349	154342024	210	12578											
ANKRD39	51239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	97519168	97519168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcatgccgtcgtcatcCaccaccctggggttggaccc	11	16	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:97519168C>T	ENST00000393537.4	-	3	485	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	126										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						CGTCGTCATCCACCACCCTGG	0.537																																					p.V126V		.											.	ANKRD39-44	0			c.G378A						.						38	28	31					2																	97519168		2200	4298	6498	SO:0001819	synonymous_variant	51239	exon3			GTCATCCACCACC	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"Ankyrin repeat domain containing"	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.378G>A	2.37:g.97519168C>T		Somatic	136	0		WXS	Illumina GAIIx	Phase_I	167	73	NM_016466	0	0	3	12	9	Q59FU2|Q8N5X5|Q9P0S5	Silent	SNP	ENST00000393537.4	37	CCDS2028.1																																																																																			.		0.537	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	NM_016466		T	97519168	C	T	97519168	2	4	62	1	0	0	0	0	0	0	0	1	668	581	21	3		3	ANKRD39	2	97519168	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8661819	97519168	145680205	211	12579											
ZAP70	7535	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr2	98340777	98340777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactcgcgcgaccccgacgGgctgccctgcaacctgcgca	11	19	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:98340777G>A	ENST00000264972.5	+	3	493	c.278G>A	c.(277-279)gGg>gAg	p.G93E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	93	SH2 1. {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						GACCCCGACGGGCTGCCCTGC	0.697																																					p.G93E		.											.	ZAP70-955	0			c.G278A						.						10	11	10					2																	98340777		2168	4247	6415	SO:0001583	missense	7535	exon3			CCGACGGGCTGCC	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.278G>A	2.37:g.98340777G>A	ENSP00000264972:p.Gly93Glu	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	122	66	NM_001079	0	0	0	0	0	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026897	0.54683	.	.	ENSG00000115085	ENST00000264972	T	0.29655	1.56	4.9	4.01	0.46588	SH2 motif (3);	0.123638	0.36167	N	0.002748	T	0.42040	0.1185	M	0.87038	2.855	0.80722	D	1	P;P	0.46987	0.888;0.754	B;B	0.42593	0.392;0.134	T	0.54840	-0.8233	10	0.87932	D	0	.	12.528	0.56098	0.0:0.0:0.8317:0.1683	.	93;93	B4E0E2;P43403	.;ZAP70_HUMAN	E	93	ENSP00000264972:G93E	ENSP00000264972:G93E	G	+	2	0	ZAP70	97707209	1.000000	0.71417	0.912000	0.35992	0.676000	0.39594	9.404000	0.97306	1.181000	0.42912	0.467000	0.42956	GGG	.		0.697	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98340777	G	A	98340777	3	1	62	1	0	0	0	0	1	0	0	0	17563	1232	43	3	280	3	ZAP70	2	98340777	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	821609	98340777	144858596	212	12580											
TBC1D8	11138	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	101652587	101652587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacggttctgccgtattccAcaaagtggtcattccacagg	9	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:101652587A>G	ENST00000376840.4	-	9	1450	c.1451T>C	c.(1450-1452)gTg>gCg	p.V484A	TBC1D8_ENST00000409318.1_Missense_Mutation_p.V499A			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	484					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						GCCGTATTCCACAAAGTGGTC	0.483																																					p.V484A		.											.	TBC1D8-25	0			c.T1451C						.						192	196	194					2																	101652587		1917	4132	6049	SO:0001583	missense	11138	exon9			TATTCCACAAAGT	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.1451T>C	2.37:g.101652587A>G	ENSP00000366036:p.Val484Ala	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	68	6	NM_001102426	0	0	10	10	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	A	0.609	-0.826033	0.02734	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.04156	3.69;3.69	4.99	1.02	0.19986	Rab-GAP/TBC domain (1);	0.232407	0.29838	N	0.011061	T	0.02193	0.0068	N	0.11427	0.14	0.20403	N	0.999906	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48636	-0.9018	10	0.06236	T	0.91	-15.5591	9.2622	0.37619	0.5926:0.0:0.4074:0.0	.	499;484	B7Z6L4;O95759	.;TBCD8_HUMAN	A	484;499	ENSP00000366036:V484A;ENSP00000386856:V499A	ENSP00000366036:V484A	V	-	2	0	TBC1D8	101019019	0.000000	0.05858	0.796000	0.32109	0.853000	0.48598	-0.022000	0.12480	-0.009000	0.14296	-0.417000	0.06048	GTG	.		0.483	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		G	101652587	A	G	101652587	3	3	62	1	0	0	0	0	1	0	0	0	15672	159	6	4	2019	4	TBC1D8	2	101652587	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3311810	101652587	141546786	213	12581											
MAP4K4	9448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	102483026	102483026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagtggctccggggaaCgcttcagagtgagatgtaag	15	8	2	3	rs369479508		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:102483026C>T	ENST00000347699.4	+	18	2107	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MAP4K4_ENST00000324219.4_Missense_Mutation_p.R781C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R502C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R503C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R676C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R672C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R619C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R618C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	703					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						CTCCGGGGAACGCTTCAGAGT	0.532																																					p.R703C		.											.	MAP4K4-547	0			c.C2107T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,3895		0,1,1947	64	72	69		2107,2086,1852,2017,2017	5.8	1	2		69	0,8288		0,0,4144	no	missense,missense,missense,missense,missense	MAP4K4	NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3	180,180,180,180,180	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	703/1240,696/1236,618/1166,673/1274,673/1213	102483026	1,12183	1948	4144	6092	SO:0001583	missense	9448	exon18			GGGGAACGCTTCA	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.2107C>T	2.37:g.102483026C>T	ENSP00000314363:p.Arg703Cys	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	72	53	NM_001242559	0	0	7	13	6	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.569407|3.569407	0.65765|0.65765	2.57E-4|2.57E-4	0.0|0.0	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.16597|.	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.997;0.994;0.997;0.998;1.0;1.0;0.998;1.0;1.0|.	P;P;P;P;P;D;D;P;D;D|.	0.85130|.	0.549;0.548;0.451;0.548;0.736;0.997;0.991;0.736;0.977;0.992|.	T|T	0.76337|0.76337	-0.2996|-0.2996	10|5	0.72032|.	D|.	0.01|.	.|.	15.6438|15.6438	0.77033|0.77033	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	676;696;502;503;618;703;672;619;672;781|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	C|M	672;781;619;503;618;502;703;634;676|519	ENSP00000392830:R672C;ENSP00000313644:R781C;ENSP00000281111:R619C;ENSP00000303600:R503C;ENSP00000389752:R618C;ENSP00000387370:R502C;ENSP00000314363:R703C;ENSP00000409720:R634C;ENSP00000343658:R676C|.	ENSP00000303600:R503C|.	R|T	+|+	1|2	0|0	MAP4K4|MAP4K4	101849458|101849458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.611000|1.611000	0.36879|0.36879	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGC|ACG	.		0.532	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		T	102483026	C	T	102483026	3	4	62	1	0	0	0	0	1	0	0	0	9300	536	19	1	2415	1	MAP4K4	2	102483026	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	830439	102483026	140716347	214	12582											
SLC9A2	6549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	103300745	103300745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtttcctcggaaaaaaTtgtttattacggctgccatt	8	8	0	0	rs368185370		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:103300745T>C	ENST00000233969.2	+	5	1517	c.1375T>C	c.(1375-1377)Ttg>Ctg	p.L459L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	459					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCGGAAAAAATTGTTTATTAC	0.413																																					p.L459L		.											.	SLC9A2-157	0			c.T1375C						.						215	208	210					2																	103300745		2203	4300	6503	SO:0001819	synonymous_variant	6549	exon5			AAAAAATTGTTTA		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1375T>C	2.37:g.103300745T>C		Somatic	174	0		WXS	Illumina GAIIx	Phase_I	131	116	NM_003048	0	0	0	1	1	B2RMS2	Silent	SNP	ENST00000233969.2	37	CCDS2062.1																																																																																			.		0.413	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			C	103300745	T	C	103300745	2	2	62	1	0	0	0	0	0	0	0	1	14757	1490	52	4		4	SLC9A2	2	103300745	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	817719	103300745	139898628	215	12583											
SLC5A7	60482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	108609479	108609479	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggtatgtgaccatgtTagacccgtttcagcaaatct	10	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:108609479T>A	ENST00000264047.2	+	4	620	c.344T>A	c.(343-345)tTa>tAa	p.L115*	SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.L10*|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.L115*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	115					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGACCATGTTAGACCCGTTT	0.408																																					p.L115X		.											.	SLC5A7-93	0			c.T344A						.						152	152	152					2																	108609479		2203	4300	6503	SO:0001587	stop_gained	60482	exon4			CCATGTTAGACCC	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.344T>A	2.37:g.108609479T>A	ENSP00000264047:p.Leu115*	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	84	63	NM_021815	0	0	0	0	0	Q53TF2	Nonsense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	41	8.571606	0.98868	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	115;10;115	.	ENSP00000264047:L115X	L	+	2	0	SLC5A7	107975911	1.000000	0.71417	0.766000	0.31476	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TTA	.		0.408	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108609479	T	A	108609479	4	1	62	1	0	0	0	0	0	1	0	0	14715	1764	61	5	354	5	SLC5A7	2	108609479	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5308734	108609479	134589894	216	12584											
NPHP1	4867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	110902136	110902136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccaccattcaagaaaaGctcataagttctataaaaga	5	8	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:110902136G>A	ENST00000393272.3	-	15	1625	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	NPHP1_ENST00000445609.2_Missense_Mutation_p.L455F|NPHP1_ENST00000355301.4_Missense_Mutation_p.L392F|NPHP1_ENST00000417665.1_Missense_Mutation_p.L454F|NPHP1_ENST00000316534.4_Missense_Mutation_p.L511F	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	510					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCAAGAAAAGCTCATAAGTT	0.348																																					p.L511F		.											.	NPHP1-92	0			c.C1531T						.						81	78	79					2																	110902136		2203	4299	6502	SO:0001583	missense	4867	exon15			AGAAAAGCTCATA	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1528C>T	2.37:g.110902136G>A	ENSP00000376953:p.Leu510Phe	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	108	77	NM_000272	0	0	0	0	0	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344230	0.61073	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.71698	-0.59;-0.57;-0.59;-0.44;-0.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.76574	2.34	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	0.997;0.999;0.999;0.998;0.999;0.999	D	0.85310	0.1078	10	0.87932	D	0	-16.1172	17.8301	0.88679	0.0:0.0:1.0:0.0	.	454;454;392;510;455;511	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	F	511;455;510;392;454	ENSP00000313169:L511F;ENSP00000389879:L455F;ENSP00000376953:L510F;ENSP00000347452:L392F;ENSP00000402176:L454F	ENSP00000313169:L511F	L	-	1	0	NPHP1	110259425	1.000000	0.71417	0.872000	0.34217	0.458000	0.32498	7.340000	0.79292	2.814000	0.96858	0.563000	0.77884	CTT	.		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		A	110902136	G	A	110902136	3	1	62	1	0	0	0	0	1	0	0	0	10618	971	34	3	694	3	NPHP1	2	110902136	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2292657	110902136	132297237	217	12585											
IL1F7	27178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	113671396	113671396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagccccctggaaccagGcccaagcctccccaccatga	9	18	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:113671396G>A	ENST00000263326.3	+	2	152	c.110G>A	c.(109-111)gGc>gAc	p.G37D	IL37_ENST00000311328.2_5'Flank|IL37_ENST00000349806.3_Intron|IL37_ENST00000352179.3_Intron|IL37_ENST00000353225.3_Missense_Mutation_p.G37D	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	37					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGGAACCAGGCCCAAGCCTC	0.567																																					p.G37D		.											.	IL37-92	0			c.G110A						.						93	77	83					2																	113671396		2203	4300	6503	SO:0001583	missense	27178	exon2			AACCAGGCCCAAG	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.110G>A	2.37:g.113671396G>A	ENSP00000263326:p.Gly37Asp	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	128	87	NM_014439	0	0	0	0	0	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	g	5.505	0.278163	0.10403	.	.	ENSG00000125571	ENST00000263326;ENST00000353225	T;T	0.58210	0.35;0.35	2.78	-1.39	0.08997	.	0.520005	0.14356	N	0.324772	T	0.30727	0.0774	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.16396	0.017;0.01	B;B	0.19946	0.027;0.013	T	0.13980	-1.0489	10	0.48119	T	0.1	-1.1576	2.747	0.05270	0.3887:0.0:0.405:0.2064	.	37;37	Q9NZH6-3;Q9NZH6	.;IL37_HUMAN	D	37	ENSP00000263326:G37D;ENSP00000309208:G37D	ENSP00000263326:G37D	G	+	2	0	IL37	113387867	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.298000	0.08265	-0.348000	0.08286	-0.260000	0.10688	GGC	.		0.567	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		A	113671396	G	A	113671396	3	1	62	1	0	0	0	0	1	0	0	0	7682	1203	42	3	116	3	IL1F7	2	113671396	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2769260	113671396	129527977	218	12586											
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	116101426	116101426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcgtcagaaaccagattgtCtttggaagacctctttagga	9	8	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:116101426C>A	ENST00000410059.1	+	3	689	c.209C>A	c.(208-210)tCt>tAt	p.S70Y	DPP10_ENST00000393147.2_Missense_Mutation_p.S74Y|DPP10_ENST00000310323.8_Missense_Mutation_p.S63Y|DPP10_ENST00000409163.1_Missense_Mutation_p.S20Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	70						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACCAGATTGTCTTTGGAAGAC	0.348																																					p.S74Y		.											.	DPP10-142	0			c.C221A						.						92	95	94					2																	116101426		2203	4300	6503	SO:0001583	missense	57628	exon3			GATTGTCTTTGGA	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.209C>A	2.37:g.116101426C>A	ENSP00000386565:p.Ser70Tyr	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	40	12	NM_001178034	0	0	3	7	4	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956326	0.53293	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.96073	1.02;1.02;1.02;-3.9;1.02;1.02;-3.9	5.85	5.85	0.93711	.	0.069556	0.64402	D	0.000013	D	0.94601	0.8260	L	0.46157	1.445	0.43579	D	0.995919	B;P;B;B	0.50943	0.066;0.94;0.04;0.04	B;P;B;B	0.48030	0.037;0.564;0.017;0.017	D	0.94820	0.7986	10	0.72032	D	0.01	-42.0535	15.6508	0.77091	0.0:1.0:0.0:0.0	.	63;74;66;70	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	20;70;20;66;74;63;20;20	ENSP00000391092:S20Y;ENSP00000386565:S70Y;ENSP00000387038:S20Y;ENSP00000376854:S66Y;ENSP00000376855:S74Y;ENSP00000309066:S63Y;ENSP00000402499:S20Y	ENSP00000309066:S63Y	S	+	2	0	DPP10	115817896	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.167000	0.58209	2.768000	0.95171	0.585000	0.79938	TCT	.		0.348	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116101426	C	A	116101426	3	1	62	1	0	0	0	0	1	0	0	0	4741	913	32	3	390	3	DPP10	2	116101426	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2430030	116101426	127097947	219	12587											
INHBB	3625	hgsc.bcm.edu	37	chr2	121103890	121103890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgcgccgccgccaccCccgccacccggatccccggg	11	25	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103890C>T	ENST00000295228.3	+	1	172	c.126C>T	c.(124-126)ccC>ccT	p.P42P		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	42					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)				cgccgccacccccgccaccCG	0.781																																					p.P42P		.											.	INHBB-93	0			c.C126T						.						1	1	1					2																	121103890		555	1521	2076	SO:0001819	synonymous_variant	3625	exon1			GCCACCCCCGCCA		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.126C>T	2.37:g.121103890C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_002193	0	0	1	1	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.781	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121103890	C	T	121103890	2	4	62	1	0	0	0	0	0	0	0	1	7769	610	22	3		3	INHBB	2	121103890	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5002464	121103890	122095483	220	12588			1	59		6	6	2814	N	C_A	3.794054e-07
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr2	121103925	121103925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtggctcgcaggacaCctgtacgtcgtgcggcggct	16	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103925C>A	ENST00000295228.3	+	1	207	c.161C>A	c.(160-162)aCc>aAc	p.T54N		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	54					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)				TCGCAGGACACCTGTACGTCG	0.756																																					p.T54N		.											.	INHBB-93	0			c.C161A						.						2	2	2					2																	121103925		1385	3169	4554	SO:0001583	missense	3625	exon1			AGGACACCTGTAC		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.161C>A	2.37:g.121103925C>A	ENSP00000295228:p.Thr54Asn	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	43	38	NM_002193	0	0	8	8	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	c	8.461	0.855320	0.17106	.	.	ENSG00000163083	ENST00000295228	T	0.79749	-1.3	2.61	2.61	0.31194	.	0.649237	0.12113	U	0.498303	T	0.67988	0.2952	L	0.43152	1.355	0.28820	N	0.897768	P	0.43750	0.816	B	0.36719	0.231	T	0.58109	-0.7694	10	0.17832	T	0.49	-5.6985	7.9015	0.29738	0.2465:0.7535:0.0:0.0	.	54	P09529	INHBB_HUMAN	N	54	ENSP00000295228:T54N	ENSP00000295228:T54N	T	+	2	0	INHBB	120820395	0.993000	0.37304	1.000000	0.80357	0.393000	0.30537	2.737000	0.47393	1.272000	0.44329	0.176000	0.17051	ACC	.		0.756	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			A	121103925	C	A	121103925	3	1	62	1	0	0	0	0	1	0	0	0	7769	507	18	3	163	3	INHBB	2	121103925	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	35	121103925	122095448	221	12589			1	59		6	6	2814	N	C_A	3.794054e-07
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr2	121103941	121103941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacctgtacgtcgtgcggCggcttccggcggccagagga	16	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103941C>T	ENST00000295228.3	+	1	223	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	59					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)				CGTCGTGCGGCGGCTTCCGGC	0.761																																					p.G59G		.											.	INHBB-93	0			c.C177T						.						2	3	3					2																	121103941		1449	3325	4774	SO:0001819	synonymous_variant	3625	exon1			GTGCGGCGGCTTC		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.177C>T	2.37:g.121103941C>T		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	57	51	NM_002193	0	0	7	7	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.761	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121103941	C	T	121103941	2	4	62	1	0	0	0	0	0	0	0	1	7769	755	27	1		1	INHBB	2	121103941	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	16	121103941	122095432	222	12590			1	59		6	6	2814	N	C_A	3.794054e-07
INHBB	3625	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	121103965	121103965	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccggcggccagaggagctCggccgagtggacggcgactt	17	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103965C>T	ENST00000295228.3	+	1	247	c.201C>T	c.(199-201)ctC>ctT	p.L67L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	67					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)				CAGAGGAGCTCGGCCGAGTGG	0.736																																					p.L67L		.											.	INHBB-93	0			c.C201T						.						3	4	4					2																	121103965		1519	3353	4872	SO:0001819	synonymous_variant	3625	exon1			GGAGCTCGGCCGA		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.201C>T	2.37:g.121103965C>T		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	75	63	NM_002193	0	0	9	9	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.736	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121103965	C	T	121103965	2	4	62	1	0	0	0	0	0	0	0	1	7769	871	31	1		1	INHBB	2	121103965	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	24	121103965	122095408	223	12591			1	59		6	6	2814	N	C_A	3.794054e-07
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr2	121104035	121104035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctgcagatgcggggcCggcccaacatcacgcacgcc	13	18	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121104035C>T	ENST00000295228.3	+	1	317	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	91					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)				GATGCGGGGCCGGCCCAACAT	0.721																																					p.R91W		.											.	INHBB-93	0			c.C271T						.						5	6	6					2																	121104035		1871	3814	5685	SO:0001583	missense	3625	exon1			CGGGGCCGGCCCA		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.271C>T	2.37:g.121104035C>T	ENSP00000295228:p.Arg91Trp	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	66	52	NM_002193	0	0	9	9	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	c	15.72	2.916672	0.52546	.	.	ENSG00000163083	ENST00000295228	T	0.71579	-0.58	3.05	3.05	0.35203	Transforming growth factor-beta, N-terminal (1);	0.437966	0.19019	U	0.124875	D	0.82531	0.5057	M	0.83603	2.65	0.43199	D	0.995049	D	0.89917	1.0	D	0.87578	0.998	D	0.83381	0.0012	10	0.87932	D	0	-4.7003	8.6885	0.34251	0.2281:0.7719:0.0:0.0	.	91	P09529	INHBB_HUMAN	W	91	ENSP00000295228:R91W	ENSP00000295228:R91W	R	+	1	2	INHBB	120820505	0.992000	0.36948	1.000000	0.80357	0.844000	0.47949	0.395000	0.20850	1.521000	0.48983	0.176000	0.17051	CGG	.		0.721	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			T	121104035	C	T	121104035	3	4	62	1	0	0	0	0	1	0	0	0	7769	643	23	1	273	1	INHBB	2	121104035	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	70	121104035	122095338	224	12592			1	59		6	6	2814	N	C_A	3.794054e-07
INHBB	3625	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	121106703	121106703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcccgggtccgcctAtacttcttcatctccaacga	6	18	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121106703A>G	ENST00000295228.3	+	2	523	c.477A>G	c.(475-477)ctA>ctG	p.L159L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	159					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)				GGGTCCGCCTATACTTCTTCA	0.557																																					p.L159L		.											.	INHBB-93	0			c.A477G						.						59	64	62					2																	121106703		2203	4300	6503	SO:0001819	synonymous_variant	3625	exon2			CCGCCTATACTTC		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.477A>G	2.37:g.121106703A>G		Somatic	231	2		WXS	Illumina GAIIx	Phase_I	125	87	NM_002193	0	0	64	70	6	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			G	121106703	A	G	121106703	2	3	62	1	0	0	0	0	0	0	0	1	7769	436	16	4		4	INHBB	2	121106703	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2668	121106703	122092670	225	12593			1	59		6	6	2814	N	C_A	3.794054e-07
CLASP1	23332	ucsc.edu;bcgsc.ca	37	chr2	122216419	122216419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctataacatacttacccgAataattaacctaacagctac	3	12	0	0	rs2304560	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:122216419A>G	ENST00000263710.4	-	13	1700	c.1311T>C	c.(1309-1311)atT>atC	p.I437I	CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000545861.1_Silent_p.I205I|CLASP1_ENST00000541859.1_Silent_p.I206I|CLASP1_ENST00000541377.1_Silent_p.I437I|CLASP1_ENST00000397587.3_Silent_p.I437I|CLASP1_ENST00000409078.3_Silent_p.I437I|CLASP1_ENST00000455322.2_Silent_p.I437I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	437					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACTTACCCGAATAATTAACC	0.338													A|||	1277	0.254992	0.5968	0.1369	5008	,	,		17301	0.131		0.0656	False		,,,				2504	0.1994				p.I437I		.											.	CLASP1-91	0			c.T1311C						.	A	,,,	1798,1880		431,936,472	71	71	71		1311,1311,1311,1311	0.4	1	2	dbSNP_100	71	622,7570		15,592,3489	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	,,,	446,1528,3961	GG,GA,AA		7.5928,48.8853,20.3875	,,,	437/1480,437/1472,437/1478,437/1539	122216419	2420,9450	1839	4096	5935	SO:0001819	synonymous_variant	23332	exon13			TACCCGAATAATT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1311T>C	2.37:g.122216419A>G		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_001207051	0	0	0	0	0	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																				A|0.779;G|0.221		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		G	122216419	A	G	122216419	2	3	62	1	0	0	0	0	0	0	0	1	3461	242	9	4		4	CLASP1	2	122216419	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1109716	122216419	120982954	226	12594											
FAM123C	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	131521542	131521542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccggtaaaaataaggccCcagttccttctacctggccc	7	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131521542C>A	ENST00000423981.1	+	2	2007	c.1897C>A	c.(1897-1899)Cca>Aca	p.P633T	AMER3_ENST00000321420.4_Missense_Mutation_p.P633T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	633					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAATAAGGCCCCAGTTCCTTC	0.587																																					p.P633T		.											.	.	0			c.C1897A						.						45	47	47					2																	131521542		2203	4300	6503	SO:0001583	missense	205147	exon2			AAGGCCCCAGTTC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1897C>A	2.37:g.131521542C>A	ENSP00000392700:p.Pro633Thr	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	159	75	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946184	0.18356	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.46451	0.87;0.87	3.79	-0.737	0.11129	.	1.222740	0.06041	N	0.654874	T	0.24736	0.0600	L	0.29908	0.895	0.09310	N	1	B	0.21452	0.056	B	0.15484	0.013	T	0.16276	-1.0408	10	0.25106	T	0.35	.	0.4881	0.00559	0.1859:0.3379:0.1989:0.2773	.	633	Q8N944	F123C_HUMAN	T	633	ENSP00000314914:P633T;ENSP00000392700:P633T	ENSP00000314914:P633T	P	+	1	0	FAM123C	131238012	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.351000	0.07711	-0.284000	0.09102	0.462000	0.41574	CCA	.		0.587	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131521542	C	A	131521542	3	1	62	1	0	0	0	0	1	0	0	0	5443	623	22	3	1899	3	FAM123C	2	131521542	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	9305123	131521542	111677831	227	12595											
FAM123C	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	131521962	131521962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcctctgtggaggacCagcccttgcagctcagcaca	12	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131521962C>T	ENST00000423981.1	+	2	2427	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q773*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	773					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGTGGAGGACCAGCCCTTGCA	0.672																																					p.Q773X		.											.	.	0			c.C2317T						.						27	27	27					2																	131521962		2203	4300	6503	SO:0001587	stop_gained	205147	exon2			GAGGACCAGCCCT	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2317C>T	2.37:g.131521962C>T	ENSP00000392700:p.Gln773*	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	164	71	NM_152698	0	0	0	0	0	B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563023	0.96527	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	2.79	0.609	0.17575	.	2.004290	0.02820	N	0.125403	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3804	0.07252	0.0:0.5564:0.258:0.1856	.	.	.	.	X	773	.	ENSP00000314914:Q773X	Q	+	1	0	FAM123C	131238432	0.139000	0.22563	0.002000	0.10522	0.006000	0.05464	0.182000	0.16900	0.135000	0.18707	0.462000	0.41574	CAG	.		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131521962	C	T	131521962	4	4	62	1	0	0	0	0	0	1	0	0	5443	595	21	3	2319	3	FAM123C	2	131521962	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	420	131521962	111677411	228	12596											
ARHGEF4	50649	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	131797625	131797625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagcccgcggatgacgacGcccctctggccgggaacagc	14	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131797625G>A	ENST00000326016.5	+	7	1303	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A262T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A262T|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A191T|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A262T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	262					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)		GGATGACGACGCCCCTCTGGC	0.701																																					p.A262T		.											.	ARHGEF4-292	0			c.G784A						.						34	35	35					2																	131797625		2190	4289	6479	SO:0001583	missense	50649	exon7			GACGACGCCCCTC	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.784G>A	2.37:g.131797625G>A	ENSP00000316845:p.Ala262Thr	Somatic	73	1		WXS	Illumina GAIIx	Phase_I	147	117	NM_032995	0	0	0	0	0	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286452	0.40494	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	4.4	-0.803	0.10886	Src homology-3 domain (1);Dbl homology (DH) domain (1);	0.361916	0.28262	N	0.015994	T	0.68924	0.3054	L	0.42245	1.32	0.09310	N	1	B;B;B	0.26258	0.067;0.145;0.033	B;B;B	0.22753	0.011;0.041;0.011	T	0.56667	-0.7941	10	0.46703	T	0.11	.	2.1228	0.03730	0.2655:0.1329:0.4664:0.1352	.	262;262;262	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	T	262;262;262;262;191	ENSP00000316845:A262T;ENSP00000376680:A262T;ENSP00000432267:A262T;ENSP00000387285:A262T;ENSP00000348017:A191T	ENSP00000316845:A262T	A	+	1	0	ARHGEF4	131514095	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.028000	0.13644	0.147000	0.19030	-0.339000	0.08088	GCC	.		0.701	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			A	131797625	G	A	131797625	3	1	62	1	0	0	0	0	1	0	0	0	908	1087	38	1	802	1	ARHGEF4	2	131797625	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	275663	131797625	111401748	229	12597											
THSD7B	80731	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	137814011	137814011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgtggggaaggtgtacagGagactgtggtcccggaggag	19	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:137814011G>A	ENST00000409968.1	+	3	339	c.161G>A	c.(160-162)gGa>gAa	p.G54E	THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.G54E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G23E			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	54	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G54A(1)		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)		AGGTGTACAGGAGACTGTGGT	0.483																																					.		.											.	THSD7B-75	1	Substitution - Missense(1)	breast(1)	.						.						56	59	58					2																	137814011		1990	4163	6153	SO:0001583	missense	80731	.			GTACAGGAGACTG			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.161G>A	2.37:g.137814011G>A	ENSP00000387145:p.Gly54Glu	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	66	33	.	0	0	7	14	7		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.261080	0.95368	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.89	5.89	0.94794	.	0.000000	0.64402	U	0.000007	T	0.72179	0.3428	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64791	-0.6324	10	0.06236	T	0.91	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	23	C9JKN6	.	E	54;54;23	ENSP00000387145:G54E;ENSP00000272643:G54E;ENSP00000413841:G23E	ENSP00000272643:G54E	G	+	2	0	THSD7B	137530481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.788000	0.95919	0.585000	0.79938	GGA	.		0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	137814011	G	A	137814011	3	1	62	1	0	0	0	0	1	0	0	0	15927	1174	41	3	74	3	THSD7B	2	137814011	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6016386	137814011	105385362	230	12598											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141259364	141259364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaccatcgccacagtcAtccttattgtcgcaaagacc	6	14	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:141259364A>G	ENST00000389484.3	-	55	9713	c.8742T>C	c.(8740-8742)gaT>gaC	p.D2914D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2914	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCCACAGTCATCCTTATTGT	0.398										TSP Lung(27;0.18)																											p.D2914D	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.T8742C						.						96	94	95					2																	141259364		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon55			ACAGTCATCCTTA	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.8742T>C	2.37:g.141259364A>G		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	86	34	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141259364	A	G	141259364	2	3	62	1	0	0	0	0	0	0	0	1	8990	214	8	4		4	LRP1B	2	141259364	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3445353	141259364	101940009	231	12599											
LRP1B	53353	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141707930	141707930	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgattatcaaagcaagagtGaacacagcccacctcatcac	6	13	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:141707930G>A	ENST00000389484.3	-	20	3981	c.3010C>T	c.(3010-3012)Cac>Tac	p.H1004Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1004					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)		AAGCAAGAGTGAACACAGCCC	0.473										TSP Lung(27;0.18)																											p.H1004Y	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C3010T						.						123	86	98					2																	141707930		2203	4300	6503	SO:0001583	missense	53353	exon20			AAGAGTGAACACA	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.3010C>T	2.37:g.141707930G>A	ENSP00000374135:p.His1004Tyr	Somatic	191	1		WXS	Illumina GAIIx	Phase_I	200	93	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520379	0.44866	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95171	-2.62;-3.63	5.8	4.93	0.64822	.	0.177963	0.40908	U	0.000981	D	0.95516	0.8543	M	0.62723	1.935	0.35225	D	0.776355	B;D	0.65815	0.02;0.995	B;D	0.72338	0.038;0.977	D	0.94269	0.7509	10	0.02654	T	1	.	14.836	0.70183	0.0686:0.0:0.9314:0.0	.	187;1004	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	1004;942;149	ENSP00000374135:H1004Y;ENSP00000413239:H149Y	ENSP00000374135:H1004Y	H	-	1	0	LRP1B	141424400	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.569000	0.73992	1.478000	0.48253	0.563000	0.77884	CAC	.		0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141707930	G	A	141707930	3	1	62	1	0	0	0	0	1	0	0	0	8990	1290	45	3	11077	3	LRP1B	2	141707930	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	448566	141707930	101491443	232	12600											
RBM43	375287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	152107742	152107743	+	Frame_Shift_Ins	INS	-	-	TC													ggtgatttcaccatccacttINStctcctgactcagaatgtgg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:152107742_152107743insTC	ENST00000331426.5	-	4	902_903	c.751_752insGA	c.(751-753)aaafs	p.K251fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	251							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACCATCCACTTTCTCCTGACTC	0.376																																					p.K251fs		.											.	RBM43-90	0			c.752_753insGA						.																																			SO:0001589	frameshift_variant	375287	exon4			TCCACTTTCTCCT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.750_751dupGA	2.37:g.152107745_152107746dupTC	ENSP00000331211:p.Lys251fs	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	42	16	NM_198557	0	0	0	0	0	B2RMT5	Frame_Shift_Ins	INS	ENST00000331426.5	37	CCDS2191.1																																																																																			.		0.376	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		TC	152107743	-	TC	152107742	7	5	62	1	0	1	1	0	0	0	0	0	13182	1841	64	0	325	0	RBM43	2	152107742	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	10399812	152107742	91091631	233	12601											
GALNT5	11227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	158115854	158115854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgaagacagtggaacGcaccaggtgttaagaattga	11	7	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:158115854G>A	ENST00000259056.4	+	1	1745	c.1260G>A	c.(1258-1260)acG>acA	p.T420T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	420					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)	p.T420T(1)		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						ACAGTGGAACGCACCAGGTGT	0.493																																					p.T420T		.											.	GALNT5-290	1	Substitution - coding silent(1)	lung(1)	c.G1260A						.						80	77	78					2																	158115854		2203	4300	6503	SO:0001819	synonymous_variant	11227	exon1			TGGAACGCACCAG	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.1260G>A	2.37:g.158115854G>A		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	71	33	NM_014568	0	0	0	0	0	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	CCDS2203.1																																																																																			.		0.493	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		A	158115854	G	A	158115854	2	1	62	1	0	0	0	0	0	0	0	1	6241	1074	38	1		1	GALNT5	2	158115854	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6008112	158115854	85083519	234	12602											
TANC1	85461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	159954275	159954275	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccaaaggtgtctcgatgtCtctgccttcctcacctttgc	9	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:159954275C>T	ENST00000263635.6	+	4	425	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TANC1_ENST00000454300.1_Missense_Mutation_p.S63F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	63					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						GTCTCGATGTCTCTGCCTTCC	0.532																																					p.S63F		.											.	TANC1-92	0			c.C188T						.						172	164	167					2																	159954275		2043	4180	6223	SO:0001583	missense	85461	exon4			CGATGTCTCTGCC	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.188C>T	2.37:g.159954275C>T	ENSP00000263635:p.Ser63Phe	Somatic	64	0		WXS	Illumina GAIIx	Phase_I	125	49	NM_033394	0	0	3	5	2	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561764	0.86335	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;T	0.85629	-2.01;-1.14	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.65975	2.015	0.32880	D	0.510434	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.996	D	0.93428	0.6783	10	0.87932	D	0	.	17.32	0.87233	0.0:1.0:0.0:0.0	.	63;63;63	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	F	63	ENSP00000396339:S63F;ENSP00000263635:S63F	ENSP00000263635:S63F	S	+	2	0	TANC1	159662521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.696000	0.92011	0.655000	0.94253	TCT	.		0.532	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	159954275	C	T	159954275	3	4	62	1	0	0	0	0	1	0	0	0	15591	913	32	3	194	3	TANC1	2	159954275	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1838421	159954275	83245098	235	12603											
WDSUB1	151525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	160132121	160132121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccacatgatgccagTcgaaaaaactgaagaccttg	8	11	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160132121T>C	ENST00000409990.3	-	4	868	c.612A>G	c.(610-612)cgA>cgG	p.R204R	WDSUB1_ENST00000392796.3_Silent_p.R204R|WDSUB1_ENST00000409124.1_Silent_p.R204R|WDSUB1_ENST00000359774.4_Silent_p.R204R|WDSUB1_ENST00000358147.4_Silent_p.R204R	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	204							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						ATGATGCCAGTCGAAAAAACT	0.323																																					p.R204R		.											.	WDSUB1-90	0			c.A612G						.						74	76	75					2																	160132121		2203	4300	6503	SO:0001819	synonymous_variant	151525	exon4			TGCCAGTCGAAAA	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.612A>G	2.37:g.160132121T>C		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	139	71	NM_152528	0	0	10	20	10	Q53TI9|Q8N6N8	Silent	SNP	ENST00000409990.3	37	CCDS2208.1																																																																																			.		0.323	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		C	160132121	T	C	160132121	2	2	62	1	0	0	0	0	0	0	0	1	17390	1654	58	4		4	WDSUB1	2	160132121	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	177846	160132121	83067252	236	12604											
MARCH7	64844	hgsc.bcm.edu;bcgsc.ca	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																					p.T293fs		.											.	MARCH7-68	0			c.879delT						.						63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844	exon5			ATCTACTTTTTTT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs	Somatic	98	2		WXS	Illumina GAIIx	Phase_I	106	48	NM_022826	0	0	0	0	0	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	CCDS2210.1																																																																																			.		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		-	160604680	T	-	160604680	7	5	62	1	0	1	0	1	0	0	0	0	9344	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	472559	160604680	82594693	237	12605											
PLA2R1	22925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	160885416	160885416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaccactgccagccagcGtgttcatccagctgattgag	10	13	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160885416G>A	ENST00000283243.7	-	5	1106	c.900C>T	c.(898-900)caC>caT	p.H300H	PLA2R1_ENST00000392771.1_Silent_p.H300H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	300	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.		H -> D (in dbSNP:rs35771982). {ECO:0000269|PubMed:7721806}.		cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCCAGCCAGCGTGTTCATCCA	0.483																																					p.H300H		.											.	PLA2R1-93	0			c.C900T						.						121	94	103					2																	160885416		2203	4300	6503	SO:0001819	synonymous_variant	22925	exon5			GCCAGCGTGTTCA	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.900C>T	2.37:g.160885416G>A		Somatic	275	1		WXS	Illumina GAIIx	Phase_I	389	193	NM_001195641	0	0	0	0	0	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																			.		0.483	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			A	160885416	G	A	160885416	2	1	62	1	0	0	0	0	0	0	0	1	12049	1136	40	1		1	PLA2R1	2	160885416	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	280736	160885416	82313957	238	12606											
TBR1	10716	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	162274227	162274227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttttaacatttctggtctcGatcccacggctcattacaat	6	11	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:162274227G>T	ENST00000389554.3	+	2	1050	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	245					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						TTCTGGTCTCGATCCCACGGC	0.408																																					p.D245Y		.											.	TBR1-91	0			c.G733T						.						124	127	126					2																	162274227		2203	4300	6503	SO:0001583	missense	10716	exon2			GGTCTCGATCCCA	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.733G>T	2.37:g.162274227G>T	ENSP00000374205:p.Asp245Tyr	Somatic	97	1		WXS	Illumina GAIIx	Phase_I	78	25	NM_006593	0	0	0	0	0	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874212	0.72180	.	.	ENSG00000136535	ENST00000389554	D	0.82167	-1.58	5.64	4.76	0.60689	p53-like transcription factor, DNA-binding (1);	0.110891	0.64402	D	0.000016	D	0.92440	0.7600	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93516	0.6857	10	0.87932	D	0	.	12.743	0.57264	0.0794:0.0:0.9206:0.0	.	245	Q16650	TBR1_HUMAN	Y	245	ENSP00000374205:D245Y	ENSP00000374205:D245Y	D	+	1	0	TBR1	161982473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.196000	0.58407	2.646000	0.89796	0.655000	0.94253	GAT	.		0.408	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		T	162274227	G	T	162274227	3	4	62	1	0	0	0	0	1	0	0	0	15694	1058	37	2	739	2	TBR1	2	162274227	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1388811	162274227	80925146	239	12607											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	162719408	162719408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttgaccaacaagtgaGctcaggtcagctgaatgaag	12	8	3	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:162719408G>A	ENST00000446997.1	+	6	695	c.602G>A	c.(601-603)aGc>aAc	p.S201N	SLC4A10_ENST00000421911.1_Missense_Mutation_p.S201N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S201N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S201N|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S201N|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S212N	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	201					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)	CAACAAGTGAGCTCAGGTCAG	0.468																																					p.S212N		.											.	SLC4A10-229	0			c.G635A						.						69	67	68					2																	162719408		1962	4163	6125	SO:0001583	missense	57282	exon7			AAGTGAGCTCAGG		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.602G>A	2.37:g.162719408G>A	ENSP00000393066:p.Ser201Asn	Somatic	179	0		WXS	Illumina GAIIx	Phase_I	246	118	NM_001178016	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708150	0.30322	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.63	5.63	0.86233	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.204155	0.52532	D	0.000072	T	0.49695	0.1572	N	0.11927	0.2	0.41004	D	0.984953	B;B;B;B	0.22541	0.071;0.0;0.071;0.001	B;B;B;B	0.28011	0.085;0.004;0.085;0.017	T	0.46693	-0.9173	10	0.17832	T	0.49	.	14.8499	0.70289	0.0:0.1436:0.8564:0.0	.	212;201;201;201	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	N	212;201;201;201;201;201;201;201	ENSP00000364664:S212N;ENSP00000395797:S201N;ENSP00000437527:S201N;ENSP00000272716:S201N;ENSP00000393066:S201N;ENSP00000404486:S201N	ENSP00000272716:S201N	S	+	2	0	SLC4A10	162427654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.132000	0.50523	2.657000	0.90304	0.591000	0.81541	AGC	.		0.468	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162719408	G	A	162719408	3	1	62	1	0	0	0	0	1	0	0	0	14696	971	34	3	709	3	SLC4A10	2	162719408	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	445181	162719408	80479965	240	12608											
FIGN	55137	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	164466944	164466944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaccaggtcgatgaggtgCgtgtcagtattcttcagttg	13	7	3	1	rs554512883		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:164466944C>T	ENST00000333129.3	-	3	1712	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	466					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGATGAGGTGCGTGTCAGTAT	0.532													C|||	1	0.000199681	0	0	5008	,	,		18317	0		0.001	False		,,,				2504	0				p.T466T		.											.	FIGN-156	0			c.G1398A						.						136	132	133					2																	164466944		2120	4230	6350	SO:0001819	synonymous_variant	55137	exon3			GAGGTGCGTGTCA	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1398G>A	2.37:g.164466944C>T		Somatic	253	1		WXS	Illumina GAIIx	Phase_I	260	100	NM_018086	0	0	1	1	0	B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	CCDS2221.2																																																																																			.		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164466944	C	T	164466944	2	4	62	1	0	0	0	0	0	0	0	1	5913	755	27	1		1	FIGN	2	164466944	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1747536	164466944	78732429	241	12609											
SCN2A	6326	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	166153538	166153538	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcagacgtttatagtAttgaataaagggaaagcaat	8	4	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166153538A>T	ENST00000375437.2	+	3	569	c.279A>T	c.(277-279)gtA>gtT	p.V93V	SCN2A_ENST00000283256.6_Silent_p.V93V|SCN2A_ENST00000357398.3_Silent_p.V93V|SCN2A_ENST00000375427.2_Silent_p.V93V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	93					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)	CGTTTATAGTATTGAATAAAG	0.279																																					p.V93V		.											.	SCN2A-142	0			c.A279T						.						54	52	53					2																	166153538		2203	4298	6501	SO:0001819	synonymous_variant	6326	exon2			TATAGTATTGAAT	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.279A>T	2.37:g.166153538A>T		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	150	65	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.279	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166153538	A	T	166153538	2	4	62	1	0	0	0	0	0	0	0	1	13961	436	16	5		5	SCN2A	2	166153538	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1686594	166153538	77045835	242	12610											
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166226748	166226748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgctgctaaagtgggttgCatatggttttcaagtgtatt	11	4	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166226748C>T	ENST00000375437.2	+	20	4078	c.3788C>T	c.(3787-3789)gCa>gTa	p.A1263V	SCN2A_ENST00000283256.6_Missense_Mutation_p.A1263V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1263V|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1263V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1263					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)	AAGTGGGTTGCATATGGTTTT	0.383																																					p.A1263V		.											.	SCN2A-142	0			c.C3788T						.						203	192	195					2																	166226748		2203	4300	6503	SO:0001583	missense	6326	exon19			GGGTTGCATATGG	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.3788C>T	2.37:g.166226748C>T	ENSP00000364586:p.Ala1263Val	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	158	83	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589987	0.96590	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99438	0.9801	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.995;0.999	D	0.99010	1.0814	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1263;1263	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1263	ENSP00000364586:A1263V;ENSP00000349973:A1263V;ENSP00000283256:A1263V;ENSP00000364576:A1263V	ENSP00000283256:A1263V	A	+	2	0	SCN2A	165934994	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	GCA	.		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166226748	C	T	166226748	3	4	62	1	0	0	0	0	1	0	0	0	13961	710	25	3	3958	3	SCN2A	2	166226748	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	73210	166226748	76972625	243	12611											
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166611442	166611442	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaacaggaaaatactcacGtatccagatataacaggatt	8	7	1	1	rs144331248	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166611442G>C	ENST00000392701.3	-	8	2299	c.1524C>G	c.(1522-1524)taC>taG	p.Y508*	GALNT3_ENST00000409882.1_Splice_Site_p.Y246*	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	508	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)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAATACTCACGTATCCAGATA	0.333																																					p.Y508X		.											.	GALNT3-92	0			c.C1524G						.						73	72	72					2																	166611442		2203	4298	6501	SO:0001630	splice_region_variant	2591	exon8			ACTCACGTATCCA		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1524+1C>G	2.37:g.166611442G>C		Somatic	99	0		WXS	Illumina GAIIx	Phase_I	105	38	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Nonsense_Mutation	SNP	ENST00000392701.3	37	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.004715	0.93287	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	.	.	.	5.55	5.55	0.83447	.	0.122808	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5985	0.50988	0.9301:0.0:0.0699:0.0	.	.	.	.	X	508;246	.	.	Y	-	3	2	GALNT3	166319688	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.354000	0.34056	0.949000	0.37715	-0.269000	0.10298	TAC	G|1.000;A|0.000		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	Nonsense_Mutation	C	166611442	G	C	166611442	5	2	62	1	0	0	0	0	0	0	1	0	6239	1159	40	2	393	2	GALNT3	2	166611442	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	384694	166611442	76587931	244	12612											
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	166621434	166621434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaatgatttccttcagCagtattgcaggtgaagaata	8	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166621434C>T	ENST00000392701.3	-	3	1423	c.648G>A	c.(646-648)ctG>ctA	p.L216L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	216	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTCCTTCAGCAGTATTGCAG	0.418																																					p.L216L		.											.	GALNT3-92	0			c.G648A						.						174	162	166					2																	166621434		2203	4300	6503	SO:0001819	synonymous_variant	2591	exon3			CTTCAGCAGTATT		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.648G>A	2.37:g.166621434C>T		Somatic	290	1		WXS	Illumina GAIIx	Phase_I	318	141	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	CCDS2226.1																																																																																			.		0.418	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		T	166621434	C	T	166621434	2	4	62	1	0	0	0	0	0	0	0	1	6239	697	25	3		3	GALNT3	2	166621434	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	9992	166621434	76577939	245	12613											
TTC21B	79809	ucsc.edu;bcgsc.ca	37	chr2	166781188	166781188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgcccaggacttgcagGctaaacaaaacaaatcagca	9	10	1	0	rs16851307	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166781188G>A	ENST00000243344.7	-	12	1524	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	463			P -> S (in dbSNP:rs16851307).		forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGACTTGCAGGCTAAACAAAA	0.353													G|||	55	0.0109824	0.0386	0.0058	5008	,	,		13522	0		0	False		,,,				2504	0				p.P463S		.											.	TTC21B-94	0			c.C1387T						.	G	SER/PRO	192,4214	119.2+/-156.9	6,180,2017	46	46	46		1387	5.8	1	2	dbSNP_123	46	0,8600		0,0,4300	yes	missense-near-splice	TTC21B	NM_024753.3	74	6,180,6317	AA,AG,GG		0.0,4.3577,1.4762	benign	463/1317	166781188	192,12814	2203	4300	6503	SO:0001630	splice_region_variant	79809	exon12			TTGCAGGCTAAAC	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1387-1C>T	2.37:g.166781188G>A		Somatic	114	1		WXS	Illumina GAIIx	Phase_I	107	49	NM_024753	0	0	0	0	0	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	G	19.77	3.889969	0.72524	0.043577	0.0	ENSG00000123607	ENST00000243344	T	0.63417	-0.04	5.76	5.76	0.90799	.	0.049003	0.85682	D	0.000000	T	0.26195	0.0639	M	0.74389	2.26	0.80722	D	1	P	0.39748	0.686	B	0.38156	0.266	T	0.53927	-0.8369	10	0.36615	T	0.2	-18.9007	19.9766	0.97312	0.0:0.0:1.0:0.0	rs16851307;rs52837751;rs58123452;rs16851307	463	Q7Z4L5	TT21B_HUMAN	S	463	ENSP00000243344:P463S	ENSP00000243344:P463S	P	-	1	0	TTC21B	166489434	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.194000	0.72082	2.728000	0.93425	0.561000	0.74099	CCT	G|0.983;A|0.017		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Missense_Mutation	A	166781188	G	A	166781188	5	1	62	1	0	0	0	0	0	0	1	0	16737	1217	42	3	2635	3	TTC21B	2	166781188	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	159754	166781188	76418185	246	12614											
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	167330837	167330837	+	Frame_Shift_Del	DEL	A	A	-													ctgaagattgttctatttttAtttaatactatgaaagtctg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:167330837delA	ENST00000409855.1	-	3	378	c.252delT	c.(250-252)aatfs	p.N84fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	84					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)	TTCTATTTTTATTTAATACTA	0.318																																					p.N84fs		.											.	SCN7A-67	0			c.252delT						.						37	35	36					2																	167330837		1718	3863	5581	SO:0001589	frameshift_variant	6332	exon3			ATTTTTATTTAAT	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.252delT	2.37:g.167330837delA	ENSP00000386796:p.Asn84fs	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	39	12	NM_002976	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000409855.1	37	CCDS46442.1																																																																																			.		0.318	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			-	167330837	A	-	167330837	7	5	62	1	0	1	0	1	0	0	0	0	13968	446	16	0	4888	0	SCN7A	2	167330837	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	549649	167330837	75868536	247	12615											
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	168099879	168099879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctcggtggatgtttgaAacaaggccattggactcaat	11	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:168099879A>C	ENST00000409195.1	+	9	2066	c.1977A>C	c.(1975-1977)gaA>gaC	p.E659D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E437D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E659D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	484					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						GGATGTTTGAAACAAGGCCAT	0.443																																					p.E659D		.											.	XIRP2-104	0			c.A1977C						.						72	69	70					2																	168099879		1897	4127	6024	SO:0001583	missense	129446	exon9			GTTTGAAACAAGG	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.1977A>C	2.37:g.168099879A>C	ENSP00000386840:p.Glu659Asp	Somatic	345	0		WXS	Illumina GAIIx	Phase_I	419	200	NM_152381	0	0	0	0	0	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	19.99	3.928896	0.73327	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.13901	2.59;2.59;2.55	5.93	2.24	0.28232	.	0.049086	0.85682	D	0.000000	T	0.38348	0.1037	M	0.86864	2.845	0.48571	D	0.999672	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.23833	-1.0177	10	0.66056	D	0.02	-23.4051	9.824	0.40901	0.8032:0.0:0.1968:0.0	.	484;484;437	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	659;659;437	ENSP00000386840:E659D;ENSP00000295237:E659D;ENSP00000387255:E437D	ENSP00000295237:E659D	E	+	3	2	XIRP2	167808125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.812000	0.47994	0.502000	0.28037	0.533000	0.62120	GAA	.		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		C	168099879	A	C	168099879	3	2	62	1	0	0	0	0	1	0	0	0	17479	11	1	5	2007	5	XIRP2	2	168099879	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	769042	168099879	75099494	248	12616											
DHRS9	10170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	169948425	169948425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagcagctgtctccagAcatcaaacaacaatatggag	10	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:169948425A>G	ENST00000327239.4	+	7	2202	c.698A>G	c.(697-699)gAc>gGc	p.D233G	DHRS9_ENST00000357546.2_Missense_Mutation_p.D233G|DHRS9_ENST00000412271.1_Missense_Mutation_p.D233G|DHRS9_ENST00000421653.1_Missense_Mutation_p.D86G|DHRS9_ENST00000602501.1_Missense_Mutation_p.D233G|DHRS9_ENST00000428522.1_Missense_Mutation_p.D233G|DHRS9_ENST00000432060.2_Missense_Mutation_p.D293G|DHRS9_ENST00000436483.2_Missense_Mutation_p.D233G	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	233					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTCTCCAGACATCAAACAA	0.423																																					p.D233G		.											.	DHRS9-90	0			c.A698G						.						65	65	65					2																	169948425		2203	4300	6503	SO:0001583	missense	10170	exon7			CTCCAGACATCAA	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.698A>G	2.37:g.169948425A>G	ENSP00000316670:p.Asp233Gly	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	117	48	NM_005771	0	0	0	1	1	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356993	0.82243	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.90504	-1.9;-1.9;-1.94;-1.9;-2.68;-1.9;-1.9	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.090500	0.85682	D	0.000000	D	0.89646	0.6775	M	0.61703	1.905	0.43203	D	0.995055	B;B	0.21147	0.052;0.026	B;B	0.20384	0.029;0.022	D	0.86589	0.1859	10	0.59425	D	0.04	.	16.0486	0.80740	1.0:0.0:0.0:0.0	.	293;233	B7Z416;Q9BPW9	.;DHRS9_HUMAN	G	233;233;293;233;86;233;233	ENSP00000316670:D233G;ENSP00000350154:D233G;ENSP00000389241:D293G;ENSP00000388564:D233G;ENSP00000388066:D86G;ENSP00000407167:D233G;ENSP00000407747:D233G	ENSP00000316670:D233G	D	+	2	0	DHRS9	169656671	0.998000	0.40836	0.997000	0.53966	0.923000	0.55619	4.050000	0.57404	2.270000	0.75569	0.482000	0.46254	GAC	.		0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		G	169948425	A	G	169948425	3	3	62	1	0	0	0	0	1	0	0	0	4512	275	10	4	708	4	DHRS9	2	169948425	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1848546	169948425	73250948	249	12617											
LRP2	4036	broad.mit.edu	37	chr2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-													catgtgttttgacatatctgAaaaaaagatagtgctgtcct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:170127462delA	ENST00000263816.3	-	16	2557	c.2272delT	c.(2272-2274)tcafs	p.S758fs	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	758					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)"	GACATATCTGAAAAAAAGATA	0.423																																					p.S758fs		.											.	LRP2-175	0			c.2272delT						.						115	111	112					2																	170127462		2203	4300	6503	SO:0001589	frameshift_variant	4036	exon16			TATCTGAAAAAAA		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.2272delT	2.37:g.170127462delA	ENSP00000263816:p.Ser758fs	Somatic	184	0		WXS	Illumina GAIIx	Phase_I	258	7	NM_004525	0	0	0	0	0	O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	CCDS2232.1																																																																																			.		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	170127462	A	-	170127462	7	5	62	1	0	1	0	1	0	0	0	0	8991	246	9	0	11951	0	LRP2	2	170127462	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	179037	170127462	73071911	250	12618											
HNRNPA3	220988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	178083867	178083867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagttttggtggaagaaGctcgggcagtccctatggtg	17	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:178083867G>A	ENST00000392524.2	+	9	1301	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.S333N|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.S355N			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	355	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGAAGAAGCTCGGGCAGT	0.353																																					p.S355N		.											.	HNRNPA3-70	0			c.G1064A						.						64	68	67					2																	178083867		2203	4300	6503	SO:0001583	missense	220988	exon9			GAAGAAGCTCGGG	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.1064G>A	2.37:g.178083867G>A	ENSP00000376309:p.Ser355Asn	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	28	10	NM_194247	0	0	163	279	116	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548584	0.45383	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.58	4.58	0.56647	.	0.000000	0.52532	U	0.000063	T	0.81168	0.4766	L	0.33668	1.02	0.49915	D	0.999833	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.75693	-0.3229	10	0.18710	T	0.47	.	17.7701	0.88489	0.0:0.0:1.0:0.0	.	333;355	B4DDB6;P51991	.;ROA3_HUMAN	N	355;333;299;300;355;92	ENSP00000376309:S355N;ENSP00000408487:S333N;ENSP00000416340:S355N;ENSP00000400688:S92N	ENSP00000376309:S355N	S	+	2	0	HNRNPA3	177792113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.364000	0.66110	2.275000	0.75901	0.580000	0.79431	AGC	.		0.353	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		A	178083867	G	A	178083867	3	1	62	1	0	0	0	0	1	0	0	0	7287	971	34	3	1098	3	HNRNPA3	2	178083867	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7956405	178083867	65115506	251	12619											
AGPS	8540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	178285080	178285080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccaaattgaattgactgGgaaaaggtaaccctggttta	12	6	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:178285080G>T	ENST00000264167.4	+	2	490	c.344G>T	c.(343-345)gGg>gTg	p.G115V	AGPS_ENST00000409888.1_Missense_Mutation_p.G115V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	115					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAATTGACTGGGAAAAGGTAA	0.308																																					p.G115V		.											.	AGPS-92	0			c.G344T						.						141	157	152					2																	178285080		2203	4293	6496	SO:0001583	missense	8540	exon2			TGACTGGGAAAAG	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.344G>T	2.37:g.178285080G>T	ENSP00000264167:p.Gly115Val	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	82	33	NM_003659	0	0	0	0	0	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494327	0.85069	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	T;T	0.37752	1.18;1.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72750	-0.4199	10	0.87932	D	0	.	19.4191	0.94713	0.0:0.0:1.0:0.0	.	115	O00116	ADAS_HUMAN	V	115	ENSP00000264167:G115V;ENSP00000386688:G115V	ENSP00000264167:G115V	G	+	2	0	AGPS	177993326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.406000	0.90216	2.699000	0.92147	0.591000	0.81541	GGG	.		0.308	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			T	178285080	G	T	178285080	3	4	62	1	0	0	0	0	1	0	0	0	394	1232	43	3	350	3	AGPS	2	178285080	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	201213	178285080	64914293	252	12620											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179401241	179401241	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggtggcttccaggcCacaacacaagaatcttttgt	10	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179401241C>A	ENST00000591111.1	-	307	95534	c.95310G>T	c.(95308-95310)gtG>gtT	p.V31770V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.V30843V|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Silent_p.V24538V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V24346V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V24471V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V33411V|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31770	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCCAGGCCACAACACAAG	0.408																																					p.V33411V		.											.	TTN-636	0			c.G100233T						.						66	65	65					2																	179401241		1839	4099	5938	SO:0001819	synonymous_variant	7273	exon357			CCAGGCCACAACA	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.95310G>T	2.37:g.179401241C>A		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	56	25	NM_001267550	0	0	0	0	0	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																																																																																				.		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179401241	C	A	179401241	2	1	62	1	0	0	0	0	0	0	0	1	16784	581	21	3		3	TTN	2	179401241	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1116161	179401241	63798132	253	12621											
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	179410344	179410344	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccaccatcagattcAggttttgtccactgaatgat	7	10	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179410344A>T	ENST00000591111.1	-	294	90794	c.90570T>A	c.(90568-90570)ccT>ccA	p.P30190P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.P29263P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P22958P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P22766P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.P22891P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P31831P|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30190	Fibronectin type-III 120. {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)			CATCAGATTCAGGTTTTGTCC	0.443																																					p.P31831P		.											.	TTN-636	0			c.T95493A						.						246	237	240					2																	179410344		1996	4167	6163	SO:0001819	synonymous_variant	7273	exon344			AGATTCAGGTTTT	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.90570T>A	2.37:g.179410344A>T		Somatic	208	1		WXS	Illumina GAIIx	Phase_I	286	130	NM_001267550	0	0	0	0	0	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																																																																																				.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179410344	A	T	179410344	2	4	62	1	0	0	0	0	0	0	0	1	16784	175	7	5		5	TTN	2	179410344	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	9103	179410344	63789029	254	12622											
TTN	7273	hgsc.bcm.edu;bcgsc.ca	37	chr2	179434526	179434527	+	Frame_Shift_Ins	INS	-	-	T													tcaccaacactcacatcacaINStttttcaacaatgtatcctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179434526_179434527insT	ENST00000591111.1	-	276	71633_71634	c.71409_71410insA	c.(71407-71412)aaatgtfs	p.C23804fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.C22877fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.C16572fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.C16380fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.C16505fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.C25445fs|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23804	Fibronectin type-III 73. {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)			CTCACATCACATTTTTCAACAA	0.371																																					p.C25445fs		.											.	TTN-636	0			c.76333_76334insA						.																																			SO:0001589	frameshift_variant	7273	exon326			CATCACATTTTTC	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.71410dupA	2.37:g.179434531_179434531dupT	ENSP00000465570:p.Cys23804fs	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	55	28	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37																																																																																				.		0.371	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179434527	-	T	179434526	7	5	62	1	0	1	1	0	0	0	0	0	16784	217	8	0	31794	0	TTN	2	179434526	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	24182	179434526	63764847	255	12623											
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	179445148	179445148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttcacattttcacagcGcaagaaagtgtcaaagtcag	8	8	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179445148G>A	ENST00000591111.1	-	267	62259	c.62035C>T	c.(62035-62037)Cgc>Tgc	p.R20679C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19752C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13447C|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13255C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13380C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22320C|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20679					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)			TTTTCACAGCGCAAGAAAGTG	0.398																																					p.R22320C		.											.	TTN-636	0			c.C66958T						.						157	142	147					2																	179445148		1881	4103	5984	SO:0001583	missense	7273	exon317			CACAGCGCAAGAA	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.62035C>T	2.37:g.179445148G>A	ENSP00000465570:p.Arg20679Cys	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	139	57	NM_001267550	0	0	0	0	0	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	10.69	1.422521	0.25639	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.34	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69233	0.3088	L	0.33137	0.985	0.48236	D	0.999617	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	P;P;P;P	0.57679	0.825;0.825;0.825;0.761	T	0.73142	-0.4076	9	0.87932	D	0	.	14.3554	0.66733	0.0726:0.0:0.9274:0.0	.	13255;13380;13447;20679	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19752;13255;13447;13380;13253	ENSP00000343764:R19752C;ENSP00000434586:R13255C;ENSP00000340554:R13447C;ENSP00000352154:R13380C	ENSP00000340554:R13447C	R	-	1	0	TTN	179153394	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.879000	0.63100	1.223000	0.43536	0.563000	0.77884	CGC	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179445148	G	A	179445148	3	1	62	1	0	0	0	0	1	0	0	0	16784	1087	38	1	41205	1	TTN	2	179445148	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	10622	179445148	63754225	256	12624											
FAM171B	165215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	187627230	187627230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcactcaagtagaaagctcGagagggagaaaacattcatc	9	8	3	3	rs144563922		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:187627230G>A	ENST00000304698.5	+	8	2364	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	721						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAGAAAGCTCGAGAGGGAGAA	0.463																																					p.E721K		.											.	FAM171B-141	0			c.G2161A						.	G	LYS/GLU	0,4406		0,0,2203	69	72	71		2161	6	1	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM171B	NM_177454.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	721/827	187627230	1,13005	2203	4300	6503	SO:0001583	missense	165215	exon8			AAGCTCGAGAGGG	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2161G>A	2.37:g.187627230G>A	ENSP00000304108:p.Glu721Lys	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	135	69	NM_177454	0	0	0	1	1	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873508	0.72180	0.0	1.16E-4	ENSG00000144369	ENST00000304698	T	0.27402	1.67	6.02	6.02	0.97574	.	0.048661	0.85682	D	0.000000	T	0.45617	0.1351	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.16012	-1.0417	10	0.35671	T	0.21	-22.8342	20.547	0.99278	0.0:0.0:1.0:0.0	.	721;722	Q6P995;A8K122	F171B_HUMAN;.	K	721	ENSP00000304108:E721K	ENSP00000304108:E721K	E	+	1	0	FAM171B	187335475	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.113000	0.94321	2.850000	0.98022	0.650000	0.86243	GAG	G|1.000;A|0.000		0.463	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187627230	G	A	187627230	3	1	62	1	0	0	0	0	1	0	0	0	5510	1059	37	1	2191	1	FAM171B	2	187627230	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8182082	187627230	55572143	257	12625											
TFPI	7035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	188348876	188348876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggaaccttggttgaTtgcggagtcagggagttatt	16	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:188348876T>G	ENST00000233156.3	-	6	897	c.603A>C	c.(601-603)caA>caC	p.Q201H	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.Q201H|TFPI_ENST00000409676.1_Missense_Mutation_p.Q201H|TFPI_ENST00000392365.1_Missense_Mutation_p.Q201H|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	201					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCTTGGTTGATTGCGGAGTCA	0.378																																					p.Q201H		.											.	TFPI-91	0			c.A603C						.						100	102	102					2																	188348876		2203	4299	6502	SO:0001583	missense	7035	exon6			GGTTGATTGCGGA		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.603A>C	2.37:g.188348876T>G	ENSP00000233156:p.Gln201His	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	90	44	NM_001032281	0	0	11	11	0	O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053624	0.55218	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.65549	0.46;0.46;0.3;-0.14;-0.16;-0.16	5.63	-4.94	0.03057	.	1.523740	0.03328	N	0.193002	T	0.56292	0.1975	M	0.64997	1.995	0.09310	N	1	B;B	0.27380	0.121;0.177	B;B	0.28232	0.087;0.059	T	0.48139	-0.9061	10	0.42905	T	0.14	.	7.0314	0.24969	0.0:0.4963:0.2151:0.2886	.	201;201	P10646-2;P10646	.;TFPI1_HUMAN	H	201;201;201;188;201;201	ENSP00000376172:Q201H;ENSP00000233156:Q201H;ENSP00000397248:Q201H;ENSP00000409177:Q188H;ENSP00000386344:Q201H;ENSP00000342306:Q201H	ENSP00000233156:Q201H	Q	-	3	2	TFPI	188057121	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.881000	0.01626	-0.904000	0.03876	0.533000	0.62120	CAA	.		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		G	188348876	T	G	188348876	3	3	62	1	0	0	0	0	1	0	0	0	15855	1490	52	5	455	5	TFPI	2	188348876	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	721646	188348876	54850497	258	12626											
SLC40A1	30061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	190436531	190436531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtactggccaaatttgcaaTatttgcaatagtgatgatca	8	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:190436531T>A	ENST00000261024.2	-	5	850	c.424A>T	c.(424-426)Att>Ttt	p.I142F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	142					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAATTTGCAATATTTGCAATA	0.368																																					p.I142F		.											.	SLC40A1-91	0			c.A424T						.						102	102	102					2																	190436531		2203	4300	6503	SO:0001583	missense	30061	exon5			TTGCAATATTTGC	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.424A>T	2.37:g.190436531T>A	ENSP00000261024:p.Ile142Phe	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	213	71	NM_014585	0	0	10	10	0	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132284	0.77662	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;D	0.94828	-1.49;-3.53	5.29	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.246278	0.46758	D	0.000265	D	0.93674	0.7979	L	0.55743	1.74	0.80722	D	1	P	0.48350	0.909	P	0.51266	0.664	D	0.91787	0.5440	10	0.59425	D	0.04	-11.909	9.6627	0.39965	0.0:0.141:0.0:0.859	.	142	Q9NP59	S40A1_HUMAN	F	142	ENSP00000261024:I142F;ENSP00000390005:I142F	ENSP00000261024:I142F	I	-	1	0	SLC40A1	190144776	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	4.123000	0.57917	0.472000	0.27344	0.533000	0.62120	ATT	.		0.368	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			A	190436531	T	A	190436531	3	1	62	1	0	0	0	0	1	0	0	0	14673	1406	49	5	1307	5	SLC40A1	2	190436531	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2087655	190436531	52762842	259	12627											
SLC40A1	30061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	190436542	190436542	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatttgcaatatttgcaataGtgatgatcaggatatagcag	9	4	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:190436542G>C	ENST00000261024.2	-	5	839	c.413C>G	c.(412-414)aCt>aGt	p.T138S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	138					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATTTGCAATAGTGATGATCAG	0.373																																					p.T138S		.											.	SLC40A1-91	0			c.C413G						.						99	99	99					2																	190436542		2203	4300	6503	SO:0001583	missense	30061	exon5			GCAATAGTGATGA	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.413C>G	2.37:g.190436542G>C	ENSP00000261024:p.Thr138Ser	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	190	61	NM_014585	0	0	20	21	1	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194620	0.22037	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.80738	-1.41;-1.41	5.29	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);	0.494047	0.24117	N	0.041394	T	0.68063	0.2960	N	0.17474	0.49	0.38515	D	0.948563	B	0.09022	0.002	B	0.13407	0.009	T	0.62914	-0.6753	10	0.34782	T	0.22	-7.6436	16.5861	0.84727	0.0:0.3642:0.6358:0.0	.	138	Q9NP59	S40A1_HUMAN	S	138	ENSP00000261024:T138S;ENSP00000390005:T138S	ENSP00000261024:T138S	T	-	2	0	SLC40A1	190144787	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.142000	0.50601	0.791000	0.33826	-0.176000	0.13171	ACT	.		0.373	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			C	190436542	G	C	190436542	3	2	62	1	0	0	0	0	1	0	0	0	14673	1029	36	3	1318	3	SLC40A1	2	190436542	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	11	190436542	52762831	260	12628											
DNAH7	56171	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	196799351	196799351	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcataactctctctaattcAaccaaccacttctccacttg	1	15	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:196799351A>T	ENST00000312428.6	-	21	3535	c.3435T>A	c.(3433-3435)gtT>gtA	p.V1145V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1145	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						TCTCTAATTCAACCAACCACT	0.363																																					p.V1145V		.											.	DNAH7-102	0			c.T3435A						.						186	179	181					2																	196799351		1853	4106	5959	SO:0001819	synonymous_variant	56171	exon21			TAATTCAACCAAC	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.3435T>A	2.37:g.196799351A>T		Somatic	157	2		WXS	Illumina GAIIx	Phase_I	174	63	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																			.		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196799351	A	T	196799351	2	4	62	1	0	0	0	0	0	0	0	1	4620	117	5	5		5	DNAH7	2	196799351	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	6362809	196799351	46400022	261	12629											
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	196837087	196837087	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttagcctcatgtctgctggaGaaaagttgacatactcgatg	10	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:196837087G>T	ENST00000312428.6	-	16	2037	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	646	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						GTCTGCTGGAGAAAAGTTGAC	0.373																																					p.S646Y		.											.	DNAH7-102	0			c.C1937A						.						184	165	171					2																	196837087		1859	4104	5963	SO:0001583	missense	56171	exon16			GCTGGAGAAAAGT	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.1937C>A	2.37:g.196837087G>T	ENSP00000311273:p.Ser646Tyr	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	175	76	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763225	0.49574	.	.	ENSG00000118997	ENST00000312428	T	0.25085	1.82	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.51991	0.1707	M	0.82923	2.615	0.80722	D	1	D	0.63880	0.993	P	0.61201	0.885	T	0.56709	-0.7934	10	0.44086	T	0.13	.	17.7101	0.88319	0.0:0.0:1.0:0.0	.	646	Q8WXX0	DYH7_HUMAN	Y	646	ENSP00000311273:S646Y	ENSP00000311273:S646Y	S	-	2	0	DNAH7	196545332	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	6.454000	0.73493	2.350000	0.79820	0.557000	0.71058	TCT	.		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196837087	G	T	196837087	3	4	62	1	0	0	0	0	1	0	0	0	4620	942	33	3	10337	3	DNAH7	2	196837087	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	37736	196837087	46362286	262	12630											
HECW2	57520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197143276	197143276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcactgtggctgcgttgCcttgtcaggtgttgccgatg	14	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:197143276C>T	ENST00000260983.3	-	15	3293	c.3111G>A	c.(3109-3111)agG>agA	p.R1037R	HECW2_ENST00000409111.1_Silent_p.R681R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1037	Interaction with TP73.				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						GGCTGCGTTGCCTTGTCAGGT	0.532																																					p.R1037R		.											.	HECW2-668	0			c.G3111A						.						125	107	113					2																	197143276		2203	4300	6503	SO:0001819	synonymous_variant	57520	exon15			GCGTTGCCTTGTC	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.3111G>A	2.37:g.197143276C>T		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	209	83	NM_020760	0	0	1	1	0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																			.		0.532	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197143276	C	T	197143276	2	4	62	1	0	0	0	0	0	0	0	1	7070	738	26	3		3	HECW2	2	197143276	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	306189	197143276	46056097	263	12631											
ANKRD44	91526	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197865169	197865169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtcatctctacaactgacGatactggaatctatggcccc	7	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:197865169G>A	ENST00000328737.2	-	23	2494	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	ANKRD44_ENST00000282272.8_Silent_p.I823I|ANKRD44_ENST00000450567.1_Silent_p.I806I|ANKRD44_ENST00000337207.5_Silent_p.I806I			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	831										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)			TACAACTGACGATACTGGAAT	0.378																																					p.I831I		.											.	ANKRD44-230	0			c.C2493T						.						148	132	137					2																	197865169		2203	4300	6503	SO:0001819	synonymous_variant	91526	exon23			ACTGACGATACTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2418C>T	2.37:g.197865169G>A		Somatic	113	1		WXS	Illumina GAIIx	Phase_I	128	68	NM_001195144	0	0	3	4	1	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	9.320	1.057761	0.19907	.	.	ENSG00000065413	ENST00000448801	.	.	.	5.95	-4.07	0.03975	.	.	.	.	.	T	0.61714	0.2369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59747	-0.7396	4	.	.	.	.	12.6573	0.56793	0.6036:0.0:0.3964:0.0	.	.	.	.	C	20	.	.	R	-	1	0	ANKRD44	197573414	0.831000	0.29352	0.894000	0.35097	0.970000	0.65996	0.025000	0.13577	-0.996000	0.03455	-0.880000	0.02959	CGT	.		0.378	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		A	197865169	G	A	197865169	2	1	62	1	0	0	0	0	0	0	0	1	672	1048	37	1		1	ANKRD44	2	197865169	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	721893	197865169	45334204	264	12632											
MARS2	92935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	198571904	198571904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctggtgaaagcccaccGgacctagaaactcagttctt	10	11	2	2	rs377701225		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:198571904G>A	ENST00000282276.6	+	1	1818	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	592					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AAAGCCCACCGGACCTAGAAA	0.423																																					p.R592Q		.											.	MARS2-92	0			c.G1775A						.	G	GLN/ARG	0,4406		0,0,2203	57	59	58		1775	4	0.9	2		58	2,8598		0,2,4298	no	missense	MARS2	NM_138395.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	592/594	198571904	2,13004	2203	4300	6503	SO:0001583	missense	92935	exon1			CCCACCGGACCTA	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1775G>A	2.37:g.198571904G>A	ENSP00000282276:p.Arg592Gln	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	67	25	NM_138395	0	0	26	47	21	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087253	0.36855	0.0	2.33E-4	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	4.93	4.03	0.46877	.	0.220563	0.36893	N	0.002355	T	0.24928	0.0605	N	0.22421	0.69	0.22835	N	0.998676	B	0.18013	0.025	B	0.12156	0.007	T	0.11743	-1.0575	10	0.27082	T	0.32	-7.0331	6.5525	0.22442	0.2184:0.0:0.7815:0.0	.	592	Q96GW9	SYMM_HUMAN	Q	592;519	ENSP00000282276:R592Q	ENSP00000282276:R592Q	R	+	2	0	MARS2	198280149	0.997000	0.39634	0.933000	0.37362	0.961000	0.63080	1.407000	0.34657	1.255000	0.44051	0.557000	0.71058	CGG	.		0.423	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		A	198571904	G	A	198571904	3	1	62	1	0	0	0	0	1	0	0	0	9355	1116	39	1	1777	1	MARS2	2	198571904	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	706735	198571904	44627469	265	12633											
C2orf69	205327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	200789972	200789972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtaacatgtttggtgCcccagaacacaatactgact	8	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:200789972C>T	ENST00000319974.5	+	2	704	c.521C>T	c.(520-522)gCc>gTc	p.A174V	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	174						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						ATGTTTGGTGCCCCAGAACAC	0.333																																					p.A174V		.											.	C2orf69-23	0			c.C521T						.						114	109	111					2																	200789972		1831	4083	5914	SO:0001583	missense	205327	exon2			TTGGTGCCCCAGA		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"hypothetical protein FLJ38973"					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.521C>T	2.37:g.200789972C>T	ENSP00000312770:p.Ala174Val	Somatic	136	2		WXS	Illumina GAIIx	Phase_I	171	81	NM_153689	0	0	21	36	15	Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989856	0.54041	.	.	ENSG00000178074	ENST00000319974	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58289	-0.7662	9	0.16420	T	0.52	-14.421	19.5548	0.95338	0.0:1.0:0.0:0.0	.	174	Q8N8R5	CB069_HUMAN	V	174	.	ENSP00000312770:A174V	A	+	2	0	C2orf69	200498217	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.794000	0.85869	2.854000	0.98071	0.655000	0.94253	GCC	.		0.333	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		T	200789972	C	T	200789972	3	4	62	1	0	0	0	0	1	0	0	0	2195	739	26	3	527	3	C2orf69	2	200789972	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2218068	200789972	42409401	266	12634											
MPP4	58538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	202520986	202520986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaccacctcctcgtaaGgggcacccactgcactgtag	8	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202520986G>A	ENST00000409474.3	-	17	1442	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	MPP4_ENST00000447335.2_Missense_Mutation_p.P405L|MPP4_ENST00000359962.5_Missense_Mutation_p.P412L|MPP4_ENST00000396886.3_Missense_Mutation_p.P337L|MPP4_ENST00000409143.1_Missense_Mutation_p.P354L|MPP4_ENST00000428900.2_Missense_Mutation_p.P388L|MPP4_ENST00000315506.7_Missense_Mutation_p.P368L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	412					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						CTCCTCGTAAGGGGCACCCAC	0.607																																					p.P412L		.											.	MPP4-22	0			c.C1235T						.						30	35	33					2																	202520986		2111	4216	6327	SO:0001583	missense	58538	exon17			TCGTAAGGGGCAC	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1235C>T	2.37:g.202520986G>A	ENSP00000387278:p.Pro412Leu	Somatic	414	0		WXS	Illumina GAIIx	Phase_I	537	237	NM_033066	0	0	0	0	0	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638918	0.96693	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.04917	3.57;3.58;3.59;3.53;3.58;3.55	5.67	5.67	0.87782	.	0.062840	0.64402	D	0.000004	T	0.11793	0.0287	L	0.54323	1.7	0.80722	D	1	P;B;P;P;P;P;P;B	0.42785	0.79;0.008;0.686;0.686;0.79;0.544;0.686;0.427	P;B;B;B;B;B;B;B	0.44561	0.453;0.009;0.266;0.209;0.377;0.266;0.266;0.331	T	0.14783	-1.0460	10	0.20046	T	0.44	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	354;337;388;381;368;405;412;377	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	L	412;368;337;412;377;341;388;354;405	ENSP00000387278:P412L;ENSP00000319363:P368L;ENSP00000353047:P412L;ENSP00000416781:P388L;ENSP00000387293:P354L;ENSP00000406160:P405L	ENSP00000319363:P368L	P	-	2	0	MPP4	202229231	1.000000	0.71417	0.539000	0.28077	0.920000	0.55202	6.873000	0.75541	2.676000	0.91093	0.655000	0.94253	CCT	.		0.607	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			A	202520986	G	A	202520986	3	1	62	1	0	0	0	0	1	0	0	0	9774	1000	35	3	702	3	MPP4	2	202520986	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1731014	202520986	40678387	267	12635											
ALS2	57679	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	202619338	202619338	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctccactgtatgtgggggTcagaaccactgtcctcgttt	10	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202619338T>A	ENST00000264276.6	-	6	1900	c.1528A>T	c.(1528-1530)Acc>Tcc	p.T510S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	510					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						TATGTGGGGGTCAGAACCACT	0.577																																					p.T510S		.											.	ALS2-275	0			c.A1528T						.						103	102	102					2																	202619338		1947	4131	6078	SO:0001583	missense	57679	exon6			TGGGGGTCAGAAC	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.1528A>T	2.37:g.202619338T>A	ENSP00000264276:p.Thr510Ser	Somatic	99	1		WXS	Illumina GAIIx	Phase_I	112	40	NM_020919	0	0	4	4	0	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544396	0.45280	.	.	ENSG00000003393	ENST00000264276	T	0.55588	0.51	5.93	5.93	0.95920	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.052129	0.85682	D	0.000000	T	0.58736	0.2143	N	0.24115	0.695	0.80722	D	1	D;B;B	0.71674	0.998;0.349;0.366	D;B;B	0.80764	0.994;0.023;0.047	T	0.54977	-0.8212	10	0.21540	T	0.41	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	510;510;510	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	S	510	ENSP00000264276:T510S	ENSP00000264276:T510S	T	-	1	0	ALS2	202327583	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.734000	0.68580	2.258000	0.74832	0.533000	0.62120	ACC	.		0.577	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		A	202619338	T	A	202619338	3	1	62	1	0	0	0	0	1	0	0	0	550	1667	58	5	3561	5	ALS2	2	202619338	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	98352	202619338	40580035	268	12636											
FZD7	8324	bcgsc.ca	37	chr2	202900893	202900893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggctcctgcagacgtGcaagagctatgccgtgccct	11	15	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202900893G>A	ENST00000286201.1	+	1	1584	c.1523G>A	c.(1522-1524)tGc>tAc	p.C508Y	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	508					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CTGCAGACGTGCAAGAGCTAT	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C508Y		.											.	FZD7-659	0			c.G1523A						.						54	54	54					2																	202900893		2203	4300	6503	SO:0001583	missense	8324	exon1			AGACGTGCAAGAG	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1523G>A	2.37:g.202900893G>A	ENSP00000286201:p.Cys508Tyr	Somatic	100	2	2133	WXS	Illumina GAIIx	Phase_I	132	59	NM_003507	0	0	2	7	5	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191131	0.78902	.	.	ENSG00000155760	ENST00000286201	D	0.83591	-1.74	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95628	0.8687	10	0.87932	D	0	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	508	O75084	FZD7_HUMAN	Y	508	ENSP00000286201:C508Y	ENSP00000286201:C508Y	C	+	2	0	FZD7	202609138	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	TGC	.		0.637	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		A	202900893	G	A	202900893	3	1	62	1	0	0	0	0	1	0	0	0	6159	1319	46	3	1525	3	FZD7	2	202900893	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	281555	202900893	40298480	269	12637											
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	204032074	204032075	+	Frame_Shift_Ins	INS	-	-	A													ccaactactttctcaatttcINSaaaaaagaggtatgtattat					rs530940764		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:204032074_204032075insA	ENST00000449802.1	+	37	6234_6235	c.5901_5902insA	c.(5902-5904)aaafs	p.K1968fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1968										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						TTCTCAATTTCAAAAAAGAGGT	0.366																																					p.F1967fs		.											.	NBEAL1-92	0			c.5901_5902insA						.																																			SO:0001589	frameshift_variant	65065	exon37			CAATTTCAAAAAA	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.5907dupA	2.37:g.204032080_204032080dupA	ENSP00000399903:p.Lys1968fs	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	40	14	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.366	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			A	204032075	-	A	204032074	7	5	62	1	0	1	1	0	0	0	0	0	10226	825	29	0	6043	0	NBEAL1	2	204032074	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	1131181	204032074	39167299	270	12638	124	2									
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	204032081	204032081	+	Missense_Mutation	SNP	G	G	A													actttctcaatttcaaaaaaGaggtatgtattatggtttca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:204032081G>A	ENST00000449802.1	+	37	6241	c.5908G>A	c.(5908-5910)Gag>Aag	p.E1970K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1970										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						TTTCAAAAAAGAGGTATGTAT	0.358																																					p.E1970K		.											.	NBEAL1-92	0			c.G5908A						.						104	96	98					2																	204032081		1799	4075	5874	SO:0001583	missense	65065	exon37			AAAAAAGAGGTAT	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.5908G>A	2.37:g.204032081G>A	ENSP00000399903:p.Glu1970Lys	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	37	16	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032270	0.35893	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.52526	0.66;1.19	5.4	5.4	0.78164	PH-BEACH domain (1);	0.769367	0.12780	N	0.439717	T	0.37839	0.1018	L	0.31207	0.915	0.80722	D	1	P;P	0.40431	0.717;0.717	B;B	0.36534	0.227;0.227	T	0.23511	-1.0186	10	0.11794	T	0.64	.	19.1184	0.93351	0.0:0.0:1.0:0.0	.	1970;1959	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	K	1970;1970;17	ENSP00000399903:E1970K;ENSP00000388466:E17K	ENSP00000344985:E1970K	E	+	1	0	NBEAL1	203740326	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.976000	0.88070	2.693000	0.91896	0.563000	0.77884	GAG	.		0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			A	204032081	G	A	204032081	3	1	62	1	0	0	0	0	1	0	0	0	10226	943	33	3	6050	3	NBEAL1	2	204032081	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7	204032081	39167292	271	12639	124	2									
PARD3B	117583	hgsc.bcm.edu;bcgsc.ca	37	chr2	206166297	206166298	+	Frame_Shift_Ins	INS	-	-	A													aaaataaagccaggaaagtcINSaaaaaaacgaaagagaagga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:206166297_206166298insA	ENST00000406610.2	+	18	2709_2710	c.2502_2503insA	c.(2503-2505)aaafs	p.K835fs	PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.K773fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.K835fs|PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.K766fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.K835fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	835	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACgaa	0.426																																					p.V834fs		.											.	PARD3B-140	1	Deletion - Frameshift(1)	large_intestine(1)	c.2502_2503insA						.																																			SO:0001589	frameshift_variant	117583	exon18			GAAAGTCAAAAAA	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2509dupA	2.37:g.206166304_206166304dupA	ENSP00000385848:p.Lys835fs	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	205	81	NM_205863	0	0	0	0	0	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																				.		0.426	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		A	206166298	-	A	206166297	7	5	62	1	0	1	1	0	0	0	0	0	11483	813	29	0	2572	0	PARD3B	2	206166297	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	2134216	206166297	37033076	272	12640											
FASTKD2	22868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207635989	207635989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtattggaaaagatgcacCgattgctcttaagaggaaac	11	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:207635989C>T	ENST00000236980.6	+	4	1313	c.965C>T	c.(964-966)cCg>cTg	p.P322L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.P322L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.P322L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	322					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAAGATGCACCGATTGCTCTT	0.348																																					p.P322L		.											.	FASTKD2-118	0			c.C965T						.						91	86	88					2																	207635989		2203	4300	6503	SO:0001583	missense	22868	exon4			ATGCACCGATTGC	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.965C>T	2.37:g.207635989C>T	ENSP00000236980:p.Pro322Leu	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	60	23	NM_001136193	0	0	27	56	29	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260759	0.59431	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.19250	2.16;2.16;2.16	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.48479	-0.9032	10	0.51188	T	0.08	-22.3287	18.1308	0.89600	0.0:1.0:0.0:0.0	.	322;322	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	L	322	ENSP00000236980:P322L;ENSP00000385990:P322L;ENSP00000384929:P322L	ENSP00000236980:P322L	P	+	2	0	FASTKD2	207344234	1.000000	0.71417	0.953000	0.39169	0.162000	0.22319	5.645000	0.67909	2.568000	0.86640	0.305000	0.20034	CCG	.		0.348	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		T	207635989	C	T	207635989	3	4	62	1	0	0	0	0	1	0	0	0	5708	652	23	1	975	1	FASTKD2	2	207635989	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1469692	207635989	35563384	273	12641											
PLEKHM3	389072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	208725974	208725974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaatggagccagctTtccctctattacctgcagaa	8	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:208725974T>C	ENST00000427836.2	-	7	2452	c.1963A>G	c.(1963-1965)Aag>Gag	p.K655E	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.K655E	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	655					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						GGAGCCAGCTTTCCCTCTATT	0.438																																					p.K655E		.											.	PLEKHM3-23	0			c.A1963G						.						96	92	93					2																	208725974		1935	4139	6074	SO:0001583	missense	389072	exon7			CCAGCTTTCCCTC	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.1963A>G	2.37:g.208725974T>C	ENSP00000417003:p.Lys655Glu	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	120	50	NM_001080475	0	0	0	3	3	B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.85|15.85	2.953465|2.953465	0.53293|0.53293	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247|ENST00000447645	D;D|.	0.82893|.	-1.66;-1.66|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.20401|0.20401	0.57|0.57	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.63046|.	0.992|.	D|.	0.64877|.	0.93|.	T|T	0.47611|0.47611	-0.9104|-0.9104	10|6	0.19590|.	T|.	0.45|.	.|.	15.5333|15.5333	0.75980|0.75980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	655|.	Q6ZWE6|.	PKHM3_HUMAN|.	E|R	655|406	ENSP00000417003:K655E;ENSP00000373899:K655E|.	ENSP00000373899:K655E|.	K|K	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208434219|208434219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.982000|5.982000	0.70532|0.70532	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	AAG|AAA	.		0.438	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		C	208725974	T	C	208725974	3	2	62	1	0	0	0	0	1	0	0	0	12121	1850	64	4	330	4	PLEKHM3	2	208725974	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1089985	208725974	34473399	274	12642											
CRYGD	1421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	208986447	208986447	+	Frame_Shift_Del	DEL	C	C	-													gcccactctggcattcgtggCcccccagtcctggtagcgcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:208986447delC	ENST00000264376.4	-	3	502	c.475delG	c.(475-477)gccfs	p.A159fs		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCATTCGTGGCCCCCCAGTCC	0.502																																					p.A159fs		.											.	CRYGD-90	0			c.475delG						.						61	60	60					2																	208986447		2203	4300	6503	SO:0001589	frameshift_variant	1421	exon3			TCGTGGCCCCCCA		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.475delG	2.37:g.208986447delC	ENSP00000264376:p.Ala159fs	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	106	39	NM_006891	0	0	0	0	0	Q17RF7|Q53R51|Q99681	Frame_Shift_Del	DEL	ENST00000264376.4	37	CCDS2378.1																																																																																			.		0.502	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		-	208986447	C	-	208986447	7	5	62	1	0	1	0	1	0	0	0	0	3924	739	26	0	53	0	CRYGD	2	208986447	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	260473	208986447	34212926	275	12643											
ERBB4	2066	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	212589889	212589889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccgtagcatctgccgTcacattgttctgcacacacc	8	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:212589889T>C	ENST00000342788.4	-	6	963	c.653A>G	c.(652-654)gAc>gGc	p.D218G	ERBB4_ENST00000402597.1_Missense_Mutation_p.D218G|ERBB4_ENST00000436443.1_Missense_Mutation_p.D218G|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	218	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)	GCATCTGCCGTCACATTGTTC	0.507										TSP Lung(8;0.080)																											p.D218G		.											.	ERBB4-1461	0			c.A653G						.						147	128	135					2																	212589889		2203	4300	6503	SO:0001583	missense	2066	exon6			CTGCCGTCACATT	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.653A>G	2.37:g.212589889T>C	ENSP00000342235:p.Asp218Gly	Somatic	217	2		WXS	Illumina GAIIx	Phase_I	298	120	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.72|18.72	3.684146|3.684146	0.68157|0.68157	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.28895|.	1.59;1.59;1.59|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50292|0.50292	0.1607|0.1607	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	D;B;P;D;D|.	0.89917|.	1.0;0.081;0.66;1.0;1.0|.	D;B;P;D;D|.	0.91635|.	0.998;0.279;0.594;0.998;0.999|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|5	0.46703|.	T|.	0.11|.	.|.	16.0139|16.0139	0.80422|0.80422	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	218;218;77;218;218|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	G|A	218|218	ENSP00000342235:D218G;ENSP00000403204:D218G;ENSP00000385565:D218G|.	ENSP00000342235:D218G|.	D|T	-|-	2|1	0|0	ERBB4|ERBB4	212298134|212298134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	8.040000|8.040000	0.89188|0.89188	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	GAC|ACG	.		0.507	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		C	212589889	T	C	212589889	3	2	62	1	0	0	0	0	1	0	0	0	5225	1667	58	4	3365	4	ERBB4	2	212589889	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3603442	212589889	30609484	276	12644											
FN1	2335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	216244003	216244003	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgctcaggcttgtgggtgtGacctgagtgaacttcaggtc	15	9	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:216244003G>A	ENST00000359671.1	-	33	5464	c.5199C>T	c.(5197-5199)gtC>gtT	p.V1733V	FN1_ENST00000443816.1_Silent_p.V1643V|FN1_ENST00000432072.2_Silent_p.V1734V|FN1_ENST00000354785.4_Silent_p.V1824V|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000323926.6_Silent_p.V1824V|FN1_ENST00000336916.4_Silent_p.V1733V|FN1_ENST00000357009.2_Silent_p.V1733V|FN1_ENST00000356005.4_Silent_p.V1643V|FN1_ENST00000346544.3_Silent_p.V1733V|FN1_ENST00000345488.5_Silent_p.V1733V|FN1_ENST00000421182.1_Silent_p.V1643V|FN1_ENST00000357867.4_Silent_p.V1643V|FN1_ENST00000446046.1_Silent_p.V1733V			P02751	FINC_HUMAN	fibronectin 1	1733	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)	TTGTGGGTGTGACCTGAGTGA	0.498																																					p.V1824V		.											.	FN1-584	0			c.C5472T						.						108	104	105					2																	216244003		2203	4300	6503	SO:0001819	synonymous_variant	2335	exon34			GGGTGTGACCTGA		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.5199C>T	2.37:g.216244003G>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	197	96	NM_212482	0	1	143	212	68	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																																																																																				.		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216244003	G	A	216244003	2	1	62	1	0	0	0	0	0	0	0	1	5984	1277	45	3		3	FN1	2	216244003	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3654114	216244003	26955370	277	12645											
TNS1	7145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	218686598	218686598	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactaaagctcttgggctcaGagtcctgagctcggggtcca	12	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:218686598G>C	ENST00000171887.4	-	23	3577	c.3125C>G	c.(3124-3126)tCt>tGt	p.S1042C	TNS1_ENST00000419504.1_Missense_Mutation_p.S1029C|TNS1_ENST00000430930.1_Missense_Mutation_p.S1021C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1042					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTGGGCTCAGAGTCCTGAGC	0.632																																					p.S1042C		.											.	TNS1-156	0			c.C3125G						.						20	22	21					2																	218686598		2199	4297	6496	SO:0001583	missense	7145	exon23			GGCTCAGAGTCCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3125C>G	2.37:g.218686598G>C	ENSP00000171887:p.Ser1042Cys	Somatic	176	2		WXS	Illumina GAIIx	Phase_I	204	86	NM_022648	0	0	17	30	13	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296561	0.23650	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91351	-2.83;2.24;-2.79;-2.8	4.11	3.21	0.36854	.	0.793790	0.09476	U	0.797078	T	0.81531	0.4842	N	0.08118	0	0.26179	N	0.979753	B;B;B	0.24368	0.102;0.102;0.102	B;B;B	0.27262	0.078;0.078;0.078	T	0.70353	-0.4895	10	0.38643	T	0.18	.	10.1595	0.42842	0.1042:0.0:0.8958:0.0	.	1042;1021;1029	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	1042;180;1029;1021	ENSP00000171887:S1042C;ENSP00000394171:S180C;ENSP00000408724:S1029C;ENSP00000406016:S1021C	ENSP00000171887:S1042C	S	-	2	0	TNS1	218394843	0.460000	0.25776	0.815000	0.32552	0.846000	0.48090	4.498000	0.60373	0.815000	0.34398	0.561000	0.74099	TCT	.		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		C	218686598	G	C	218686598	3	2	62	1	0	0	0	0	1	0	0	0	16390	942	33	3	2126	3	TNS1	2	218686598	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2442595	218686598	24512775	278	12646											
TMBIM1	64114	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	219146728	219146728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagggtgaccgtagCcaggctgcgggtagccaggg	18	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219146728C>T	ENST00000444881.1	-	3	862	c.137G>A	c.(136-138)gGc>gAc	p.G46D	TMBIM1_ENST00000258412.3_Missense_Mutation_p.G46D|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000445635.1_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G46D			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	46					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGACCGTAGCCAGGCTGCGG	0.677																																					p.G46D		.											.	TMBIM1-90	0			c.G137A						.						23	25	24					2																	219146728		2202	4300	6502	SO:0001583	missense	64114	exon2			CCGTAGCCAGGCT	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.137G>A	2.37:g.219146728C>T	ENSP00000409738:p.Gly46Asp	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	139	66	NM_022152	0	0	15	44	29	B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	37	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023606	0.75390	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000429501;ENST00000425694;ENST00000418569;ENST00000440422;ENST00000444183;ENST00000453776;ENST00000444000;ENST00000453281;ENST00000451181;ENST00000434015;ENST00000413976	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.75	3.84	0.44239	.	0.543470	0.20935	N	0.083040	T	0.58764	0.2145	M	0.80982	2.52	0.80722	D	1	D	0.54601	0.967	P	0.49683	0.619	T	0.60880	-0.7175	10	0.10111	T	0.7	-8.579	12.4075	0.55449	0.0:0.8291:0.1709:0.0	.	46	Q969X1	TMBI1_HUMAN	D	46	ENSP00000258412:G46D;ENSP00000409738:G46D;ENSP00000380025:G46D;ENSP00000399987:G46D;ENSP00000399345:G46D;ENSP00000406744:G46D;ENSP00000412518:G46D;ENSP00000410136:G46D;ENSP00000410771:G46D;ENSP00000403462:G46D;ENSP00000395614:G46D;ENSP00000394946:G46D;ENSP00000405516:G46D;ENSP00000408729:G46D	ENSP00000258412:G46D	G	-	2	0	TMBIM1	218854972	0.994000	0.37717	1.000000	0.80357	0.921000	0.55340	2.228000	0.42981	1.154000	0.42482	0.655000	0.94253	GGC	.		0.677	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		T	219146728	C	T	219146728	3	4	62	1	0	0	0	0	1	0	0	0	16028	739	26	3	842	3	TMBIM1	2	219146728	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	460130	219146728	24052645	279	12647											
SLC11A1	6556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219251383	219251383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccgtcctctggctgaCcatcgagctagccattgtgg	11	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219251383C>A	ENST00000233202.6	+	5	759	c.419C>A	c.(418-420)aCc>aAc	p.T140N	SLC11A1_ENST00000539932.1_Missense_Mutation_p.T22N|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	140					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGGCTGACCATCGAGCTA	0.567																																					p.T140N		.											.	SLC11A1-93	0			c.C419A						.						88	72	77					2																	219251383		2203	4300	6503	SO:0001583	missense	6556	exon5			GGCTGACCATCGA	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.419C>A	2.37:g.219251383C>A	ENSP00000233202:p.Thr140Asn	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	94	50	NM_000578	0	0	1	1	0	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633052	0.29068	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70164	-0.46;-0.46	5.24	2.49	0.30216	.	0.455087	0.23134	N	0.051555	T	0.53981	0.1830	L	0.42245	1.32	0.29173	N	0.877011	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.20577	0.03;0.008;0.008	T	0.53732	-0.8397	10	0.72032	D	0.01	-34.477	5.5108	0.16880	0.0:0.5317:0.0:0.4683	.	140;22;140	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	N	140;22	ENSP00000233202:T140N;ENSP00000443435:T22N	ENSP00000233202:T140N	T	+	2	0	SLC11A1	218959627	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.380000	0.44327	0.907000	0.36646	-0.150000	0.13652	ACC	.		0.567	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		A	219251383	C	A	219251383	3	1	62	1	0	0	0	0	1	0	0	0	14425	507	18	3	437	3	SLC11A1	2	219251383	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	104655	219251383	23947990	280	12648											
CCDC108	255101	hgsc.bcm.edu;bcgsc.ca	37	chr2	219895931	219895932	+	Frame_Shift_Ins	INS	-	-	T													taaggggctgaaaggtcaccINSttgatctgagaggcctggcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219895931_219895932insT	ENST00000341552.5	-	8	994_995	c.911_912insA	c.(910-912)aagfs	p.K304fs	CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.K304fs|CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.K293fs|CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.K304fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.K239fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	304						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAAGGTCACCTTGATCTGAGA	0.658																																					p.K304fs		.											.	CCDC108-94	0			c.912_913insA						.																																			SO:0001589	frameshift_variant	255101	exon8			GGTCACCTTGATC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.912dupA	2.37:g.219895933_219895933dupT	ENSP00000340776:p.Lys304fs	Somatic	149	2		WXS	Illumina GAIIx	Phase_I	218	103	NM_194302	0	0	0	0	0	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	CCDS2430.2																																																																																			.		0.658	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219895932	-	T	219895931	7	5	62	1	0	1	1	0	0	0	0	0	2750	680	24	0	4977	0	CCDC108	2	219895931	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	644548	219895931	23303442	281	12649											
CHPF	79586	hgsc.bcm.edu	37	chr2	220406784	220406784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcccgtcaggaacaccaCacgctccagccggtgcccca	10	19	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:220406784C>T	ENST00000243776.6	-	2	690	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	CHPF_ENST00000535926.1_De_novo_Start_InFrame|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.V148M|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	148					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGAACACCACACGCTCCAGC	0.711											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V148M		.											.	CHPF-90	0			c.G442A						.						8	9	8					2																	220406784		2183	4252	6435	SO:0001583	missense	79586	exon2			ACACCACACGCTC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.442G>A	2.37:g.220406784C>T	ENSP00000243776:p.Val148Met	Somatic	4	0	2266	WXS	Illumina GAIIx	Phase_I	91	44	NM_024536	0	0	44	88	44	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178352	0.78564	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.14640	2.49	4.28	4.28	0.50868	.	0.082315	0.48767	D	0.000170	T	0.25754	0.0627	L	0.52573	1.65	0.80722	D	1	D;P	0.57571	0.98;0.941	P;P	0.60068	0.868;0.753	T	0.00371	-1.1782	10	0.49607	T	0.09	-22.9205	11.884	0.52592	0.0:0.669:0.331:0.0	.	148;148	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	M	148	ENSP00000243776:V148M	ENSP00000243776:V148M	V	-	1	0	CHPF	220115028	0.993000	0.37304	1.000000	0.80357	0.830000	0.47004	2.574000	0.46016	2.399000	0.81585	0.448000	0.29417	GTG	.		0.711	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		T	220406784	C	T	220406784	3	4	62	1	0	0	0	0	1	0	0	0	3375	478	17	3	1897	3	CHPF	2	220406784	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	510853	220406784	22792589	282	12650											
SGPP2	130367	ucsc.edu;bcgsc.ca	37	chr2	223423173	223423173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccccctcttccccgtgtgTgtcatagttgtgccattctt	8	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:223423173T>C	ENST00000321276.7	+	5	842	c.756T>C	c.(754-756)tgT>tgC	p.C252C		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	252					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCCCCGTGTGTGTCATAGTTG	0.592																																					p.C252C		.											.	SGPP2-91	0			c.T756C						.						154	139	144					2																	223423173		2203	4300	6503	SO:0001819	synonymous_variant	130367	exon5			CGTGTGTGTCATA	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.756T>C	2.37:g.223423173T>C		Somatic	287	3		WXS	Illumina GAIIx	Phase_I	383	172	NM_152386	0	0	12	33	21	A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	CCDS2453.1																																																																																			.		0.592	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2			C	223423173	T	C	223423173	2	2	62	1	0	0	0	0	0	0	0	1	14265	1702	59	4		4	SGPP2	2	223423173	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3016389	223423173	19776200	283	12651											
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	225652093	225652093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactccacacacatgtAtagctgctccaccaggatat	7	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:225652093A>G	ENST00000258390.7	-	49	5507	c.5440T>C	c.(5440-5442)Tac>Cac	p.Y1814H	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y1808H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	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)		ACACACATGTATAGCTGCTCC	0.423																																					p.Y1814H		.											.	DOCK10-92	0			c.T5440C						.						202	198	199					2																	225652093		1988	4173	6161	SO:0001583	missense	55619	exon49			ACATGTATAGCTG	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.5440T>C	2.37:g.225652093A>G	ENSP00000258390:p.Tyr1814His	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	115	40	NM_014689	0	0	9	15	6	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467145	0.43839	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19669	2.13;2.13	5.63	4.41	0.53225	.	0.364265	0.30695	N	0.009074	T	0.09113	0.0225	N	0.03608	-0.345	0.29366	N	0.864319	B;B;B;B	0.18166	0.005;0.026;0.005;0.001	B;B;B;B	0.20384	0.009;0.029;0.007;0.0	T	0.04664	-1.0935	10	0.87932	D	0	.	6.4601	0.21952	0.5993:0.2676:0.0:0.1331	.	1814;635;1808;476	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1808;1814;319	ENSP00000386694:Y1808H;ENSP00000258390:Y1814H	ENSP00000258390:Y1814H	Y	-	1	0	DOCK10	225360337	1.000000	0.71417	0.914000	0.36105	0.952000	0.60782	4.236000	0.58675	2.144000	0.66660	0.528000	0.53228	TAC	.		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			G	225652093	A	G	225652093	3	3	62	1	0	0	0	0	1	0	0	0	4699	449	16	4	1152	4	DOCK10	2	225652093	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2228920	225652093	17547280	284	12652											
SLC16A14	151473	hgsc.bcm.edu;bcgsc.ca	37	chr2	230911202	230911203	+	Frame_Shift_Del	DEL	GA	GA	-													gtcgtttgggtttttaccagGagagaggggcctcatgagcg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:230911202_230911203delGA	ENST00000295190.4	-	4	1097_1098	c.639_640delTC	c.(637-642)tctcctfs	p.P214fs		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	214						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)		TTTTTACCAGGAGAGAGGGGCC	0.55																																					p.213_214del		.											.	SLC16A14-96	0			c.639_640del						.																																			SO:0001589	frameshift_variant	151473	exon4			TACCAGGAGAGAG	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.639_640delTC	2.37:g.230911206_230911207delGA	ENSP00000295190:p.Pro214fs	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	98	51	NM_152527	0	0	0	0	0	A8KA08|Q53R92|Q96NI7	Frame_Shift_Del	DEL	ENST00000295190.4	37	CCDS2473.1																																																																																			.		0.55	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		-	230911203	GA	-	230911202	7	5	62	1	0	1	0	1	0	0	0	0	14452	1174	41	0	900	0	SLC16A14	2	230911202	Frame_Shift_Del	DEL	GA	TCGA-PK-A5HB-01A-11D-A29I-10	5259109	230911202	12288171	285	12653											
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233651868	233651868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttatagggagaccaAattttgaggaaggtggacca	11	5	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:233651868A>C	ENST00000409547.1	+	11	852	c.541A>C	c.(541-543)Aat>Cat	p.N181H	GIGYF2_ENST00000409451.3_Missense_Mutation_p.N203H|GIGYF2_ENST00000452341.2_Missense_Mutation_p.N12H|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N181H|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N203H|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N181H|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N203H	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	181	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGGAGACCAAATTTTGAGGA	0.388																																					p.N203H		.											.	GIGYF2-28	0			c.A607C						.						70	73	72					2																	233651868		2203	4300	6503	SO:0001583	missense	26058	exon11			AGACCAAATTTTG	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.541A>C	2.37:g.233651868A>C	ENSP00000386537:p.Asn181His	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	64	31	NM_001103147	0	0	0	0	0	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582360	0.65992	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.77620	-0.74;-0.83;-0.74;-0.83;-0.82;-0.8;-0.74;-0.93;-1.11;-0.63	5.63	5.63	0.86233	.	0.099725	0.64402	D	0.000002	D	0.84160	0.5411	L	0.44542	1.39	0.35580	D	0.806161	D;D;D;D	0.69078	0.997;0.997;0.976;0.994	D;D;P;D	0.78314	0.991;0.987;0.656;0.962	D	0.88545	0.3112	10	0.66056	D	0.02	-15.2444	16.1263	0.81397	1.0:0.0:0.0:0.0	.	12;203;181;181	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	H	203;130;181;203;181;181;130;181;203;181;12;12;8	ENSP00000362667:N203H;ENSP00000362664:N181H;ENSP00000386765:N203H;ENSP00000386537:N181H;ENSP00000404195:N130H;ENSP00000387070:N181H;ENSP00000387170:N203H;ENSP00000410297:N181H;ENSP00000392218:N12H;ENSP00000411505:N12H	ENSP00000362664:N181H	N	+	1	0	GIGYF2	233360112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.488000	0.66869	2.257000	0.74773	0.533000	0.62120	AAT	.		0.388	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233651868	A	C	233651868	3	2	62	1	0	0	0	0	1	0	0	0	6404	14	1	5	637	5	GIGYF2	2	233651868	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2740666	233651868	9547505	286	12654											
INPP5D	3635	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234091058	234091058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttccctcccctgcaggcAgtaccagcgacatcatgacg	9	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:234091058A>G	ENST00000359570.5	+	21	2038	c.2038A>G	c.(2038-2040)Agt>Ggt	p.S680G	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Missense_Mutation_p.S444G|INPP5D_ENST00000455936.2_Missense_Mutation_p.S444G			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	692					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCTGCAGGCAGTACCAGCGA	0.512																																					.	NSCLC(82;1215 1426 16163 20348 41018)	.											.	INPP5D-652	0			.						.						149	146	147					2																	234091058		2058	4210	6268	SO:0001583	missense	3635	.			GCAGGCAGTACCA	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2038A>G	2.37:g.234091058A>G	ENSP00000352575:p.Ser680Gly	Somatic	182	0		WXS	Illumina GAIIx	Phase_I	254	117	.	0	0	0	0	0	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	A	10.77	1.442646	0.25987	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.36	1.19	0.21007	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.774326	0.13020	N	0.420182	D	0.90909	0.7143	.	.	.	0.34679	D	0.724466	B;B	0.24317	0.082;0.101	B;B	0.31442	0.054;0.13	D	0.84339	0.0526	9	0.15499	T	0.54	.	11.4315	0.50043	0.3698:0.0:0.0:0.6302	.	691;692	Q92835-2;Q92835	.;SHIP1_HUMAN	G	680;444;444;313;313;313	ENSP00000352575:S680G;ENSP00000407916:S444G;ENSP00000404610:S444G;ENSP00000400151:S313G;ENSP00000397421:S313G;ENSP00000405338:S313G	ENSP00000352575:S680G	S	+	1	0	INPP5D	233755797	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	5.038000	0.64177	0.273000	0.22049	0.482000	0.46254	AGT	.		0.512	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		G	234091058	A	G	234091058	3	3	62	1	0	0	0	0	1	0	0	0	7783	188	7	4	1656	4	INPP5D	2	234091058	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	439190	234091058	9108315	287	12655											
TRPM8	79054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	234854560	234854560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatccactgtatatcctgGacaacaaccacacacatttg	6	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:234854560G>A	ENST00000324695.4	+	7	800	c.760G>A	c.(760-762)Gac>Aac	p.D254N	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	254					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTATATCCTGGACAACAACCA	0.433																																					p.D254N		.											.	TRPM8-94	0			c.G760A						.						141	126	131					2																	234854560		2203	4300	6503	SO:0001583	missense	79054	exon7			ATCCTGGACAACA	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.760G>A	2.37:g.234854560G>A	ENSP00000323926:p.Asp254Asn	Somatic	127	1		WXS	Illumina GAIIx	Phase_I	137	61	NM_024080	0	0	0	0	0	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689903	0.88735	.	.	ENSG00000144481	ENST00000324695	T	0.05258	3.47	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.08492	0.0211	L	0.42245	1.32	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.37888	-0.9686	10	0.10377	T	0.69	-35.1857	17.974	0.89121	0.0:0.0:1.0:0.0	.	254	Q7Z2W7	TRPM8_HUMAN	N	254	ENSP00000323926:D254N	ENSP00000323926:D254N	D	+	1	0	TRPM8	234519299	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.765000	0.85310	2.599000	0.87857	0.655000	0.94253	GAC	.		0.433	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		A	234854560	G	A	234854560	3	1	62	1	0	0	0	0	1	0	0	0	16640	1174	41	3	782	3	TRPM8	2	234854560	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	763502	234854560	8344813	288	12656											
COPS8	10920	hgsc.bcm.edu;bcgsc.ca	37	chr2	238002796	238002797	+	Frame_Shift_Ins	INS	-	-	T													acttcaatcatcgccgatgaINSttttgcagcctttgttggac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238002796_238002797insT	ENST00000354371.2	+	5	1048_1049	c.395_396insT	c.(394-399)gattttfs	p.DF132fs	COPS8_ENST00000409629.1_Frame_Shift_Ins_p.DF132fs|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000392008.2_Frame_Shift_Ins_p.DF83fs	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	132	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ATCGCCGATGATTTTGCAGCCT	0.436																																					p.D132fs		.											.	COPS8-228	0			c.395_396insT						.																																			SO:0001589	frameshift_variant	10920	exon5			CCGATGATTTTGC		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.399dupT	2.37:g.238002800_238002800dupT	ENSP00000346340:p.Asp132fs	Somatic	101	1		WXS	Illumina GAIIx	Phase_I	117	48	NM_006710	0	0	0	0	0	A8K1H6|Q53QS9	Frame_Shift_Ins	INS	ENST00000354371.2	37	CCDS2517.1																																																																																			.		0.436	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		T	238002797	-	T	238002796	7	5	62	1	0	1	1	0	0	0	0	0	3747	333	12	0	413	0	COPS8	2	238002796	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	3148236	238002796	5196577	289	12657											
LRRFIP1	9208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	238672429	238672431	+	In_Frame_Del	DEL	TGG	TGG	-													caatcatcaggcccgagggcTggtggtgaagaattagatga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238672429_238672431delTGG	ENST00000392000.4	+	11	2190_2192	c.2073_2075delTGG	c.(2071-2076)gctggt>gct	p.G693del	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_In_Frame_Del_p.G637del|LRRFIP1_ENST00000244815.5_In_Frame_Del_p.G669del	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	693					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)		GCCCGAGGGCTGGTGGTGAAGAA	0.463																																					p.691_692del		.											.	LRRFIP1-153	0			c.2073_2075del						.																																			SO:0001651	inframe_deletion	9208	exon11			GAGGGCTGGTGGT	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.2073_2075delTGG	2.37:g.238672432_238672434delTGG	ENSP00000375857:p.Gly693del	Somatic	203	0		WXS	Illumina GAIIx	Phase_I	230	78	NM_001137552	0	0	0	0	0	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	In_Frame_Del	DEL	ENST00000392000.4	37	CCDS46552.1																																																																																			.		0.463	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		-	238672431	TGG	-	238672429	7	5	62	1	0	1	0	1	0	0	0	0	9062	1567	55	0	2791	0	LRRFIP1	2	238672429	In_Frame_Del	DEL	TGG	TCGA-PK-A5HB-01A-11D-A29I-10	669633	238672429	4526944	290	12658											
SCLY	51540	broad.mit.edu;bcgsc.ca	37	chr2	238990850	238990850	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacaatcgtggggcacaaGgtaagtctgcagaggcttcc	12	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238990850G>T	ENST00000555827.1	+	6	841	c.777G>T	c.(775-777)aaG>aaT	p.K259N	SCLY_ENST00000409736.2_Splice_Site_p.K259N|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Splice_Site_p.K165N|SCLY_ENST00000254663.6_Splice_Site_p.K267N|SCLY_ENST00000373332.3_Splice_Site_p.K177N			Q96I15	SCLY_HUMAN	selenocysteine lyase	259					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)		TGGGGCACAAGGTAAGTCTGC	0.622																																					p.K267N	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	.											.	SCLY-92	0			c.G801T						.						50	48	49					2																	238990850		2202	4299	6501	SO:0001630	splice_region_variant	51540	exon6			GCACAAGGTAAGT	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.777+1G>T	2.37:g.238990850G>T		Somatic	188	2		WXS	Illumina GAIIx	Phase_I	275	109	NM_016510	0	0	0	0	0	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	20.4|20.4|20.4|20.4	3.991016|3.991016|3.991016|3.991016	0.74703|0.74703|0.74703|0.74703	.|.|.|.	.|.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000440143|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000431487|ENST00000437134	.|T;T;D;D;T;D|.|.	.|0.98493|.|.	.|-0.84;-0.84;-4.96;-4.96;-0.84;-4.96|.|.	5.48|5.48|5.48|5.48	5.48|5.48|5.48|5.48	0.80851|0.80851|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|D	.|0.90820|0.90820|0.90820	.|0.7117|0.7117|0.7117	H|H|H|H	0.98577|0.98577|0.98577|0.98577	4.27|4.27|4.27|4.27	0.80722|0.80722|0.80722|0.80722	D|D|D|D	1|1|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|D	.|0.94201|0.94201|0.94201	.|0.7450|0.7450|0.7450	.|10|5|5	.|0.87932|.|.	.|D|.|.	.|0|.|.	-24.3551|-24.3551|-24.3551|-24.3551	18.1424|18.1424|18.1424|18.1424	0.89644|0.89644|0.89644|0.89644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.|.	.|165;259;259|.|.	.|E7ESG3;Q96I15;Q96I15-2|.|.	.|.;SCLY_HUMAN;.|.|.	X|N|M|F	37|267;259;177;259;165;89|105|103	.|ENSP00000254663:K267N;ENSP00000450613:K259N;ENSP00000362429:K177N;ENSP00000387162:K259N;ENSP00000416865:K165N;ENSP00000414053:K89N|.|.	.|ENSP00000254663:K259N|.|.	G|K|R|V	+|+|+|+	1|3|2|1	0|2|0|0	SCLY|SCLY|SCLY|SCLY	238655589|238655589|238655589|238655589	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.070000|0.070000|0.070000|0.070000	0.16714|0.16714|0.16714|0.16714	9.713000|9.713000|9.713000|9.713000	0.98740|0.98740|0.98740|0.98740	2.576000|2.576000|2.576000|2.576000	0.86940|0.86940|0.86940|0.86940	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	GGA|AAG|AGG|GTT	.		0.622	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	Missense_Mutation	T	238990850	G	T	238990850	5	4	62	1	0	0	0	0	0	0	1	0	13952	1014	35	3	799	3	SCLY	2	238990850	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	318421	238990850	4208523	291	12659											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237830	239237830	+	Frame_Shift_Del	DEL	G	G	-													gagacagagagaaagagtgaGggggggaaagagaaggagag					rs150462938		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:239237830delG	ENST00000373327.4	+	5	984	c.762delG	c.(760-762)gagfs	p.E254fs	TRAF3IP1_ENST00000391994.2_Frame_Shift_Del_p.E254fs|TRAF3IP1_ENST00000391993.3_Frame_Shift_Del_p.E254fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	254	Abolishes microtubules-binding when missing.|Arg-rich.|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)		gaaagagtgagggggggaaag	0.597																																					p.E254fs		.											.	TRAF3IP1-228	0			c.762delG						.						76	83	81					2																	239237830		2200	4299	6499	SO:0001589	frameshift_variant	26146	exon5			GAGTGAGGGGGGG	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.762delG	2.37:g.239237830delG	ENSP00000362424:p.Glu254fs	Somatic	238	0		WXS	Illumina GAIIx	Phase_I	308	8	NM_015650	0	0	0	0	0	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Del	DEL	ENST00000373327.4	37	CCDS33415.1																																																																																			.		0.597	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		-	239237830	G	-	239237830	7	5	62	1	0	1	0	1	0	0	0	0	16488	991	35	0	780	0	TRAF3IP1	2	239237830	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	246980	239237830	3961543	292	12660											
HDAC4	9759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	240085574	240085574	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttctttttattgaggAcaaattcttgtaacttcatc	6	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:240085574A>T	ENST00000345617.3	-	6	1327	c.536T>A	c.(535-537)gTc>gAc	p.V179D	AC017028.1_ENST00000396489.1_5'Flank|HDAC4_ENST00000541256.1_Missense_Mutation_p.V148D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	179	Interaction with MEF2A.				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)		TTTATTGAGGACAAATTCTTG	0.562																																					p.V179D		.											.	HDAC4-291	0			c.T536A						.						136	139	138					2																	240085574		2203	4300	6503	SO:0001583	missense	9759	exon6			TTGAGGACAAATT	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.536T>A	2.37:g.240085574A>T	ENSP00000264606:p.Val179Asp	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	135	50	NM_006037	0	0	4	6	2	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550138	0.86127	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542	T;T;T	0.52526	4.36;4.36;0.66	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.64327	0.2588	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.994;0.992;0.998;0.997;0.949;0.949	T	0.65203	-0.6225	9	.	.	.	.	13.7966	0.63175	1.0:0.0:0.0:0.0	.	174;62;148;148;147;179	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	D	179;62;148;62;148	ENSP00000264606:V179D;ENSP00000443057:V148D;ENSP00000405226:V148D	.	V	-	2	0	HDAC4	239750511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.452000	0.90346	1.727000	0.51537	0.533000	0.62120	GTC	.		0.562	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		T	240085574	A	T	240085574	3	4	62	1	0	0	0	0	1	0	0	0	7036	275	10	5	2806	5	HDAC4	2	240085574	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	847744	240085574	3113799	293	12661											
ANKMY1	51281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241463346	241463346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatggtccctttgtcgaaGctgctggtgcacggtgaggg	16	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241463346G>A	ENST00000272972.3	-	7	1735	c.1521C>T	c.(1519-1521)agC>agT	p.S507S	ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000401804.1_Silent_p.S596S|ANKMY1_ENST00000373320.4_Silent_p.S277S|ANKMY1_ENST00000391987.1_Silent_p.S507S|ANKMY1_ENST00000536462.1_Silent_p.S319S|ANKMY1_ENST00000361678.4_Silent_p.S366S|ANKMY1_ENST00000405523.3_Silent_p.S366S|ANKMY1_ENST00000373318.2_Silent_p.S366S|ANKMY1_ENST00000403283.1_Silent_p.S445S|ANKMY1_ENST00000406958.1_Silent_p.S268S|ANKMY1_ENST00000405002.1_Silent_p.S277S	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	507							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)		CTTTGTCGAAGCTGCTGGTGC	0.622																																					p.S507S		.											.	ANKMY1-90	0			c.C1521T						.						64	61	62					2																	241463346		2203	4300	6503	SO:0001819	synonymous_variant	51281	exon7			GTCGAAGCTGCTG	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.1521C>T	2.37:g.241463346G>A		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	170	78	NM_016552	0	0	3	9	6	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1																																																																																			.		0.622	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		A	241463346	G	A	241463346	2	1	62	1	0	0	0	0	0	0	0	1	634	962	34	3		3	ANKMY1	2	241463346	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1377772	241463346	1736027	294	12662											
RNPEPL1	57140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgacctccacagggtgCggcgcttcctggagagccag	13	14	0	2	rs193086300		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241516387C>T	ENST00000270357.4	+	10	1764	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	391					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R391W(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													C|||	1	0.000199681	0	0	5008	,	,		17545	0		0.001	False		,,,				2504	0				p.R622W		.											.	RNPEPL1-154	1	Substitution - Missense(1)	prostate(1)	c.C1864T						.						72	68	70					2																	241516387		2203	4300	6503	SO:0001583	missense	57140	exon10			AGGGTGCGGCGCT			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1171C>T	2.37:g.241516387C>T	ENSP00000270357:p.Arg391Trp	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	195	76	NM_018226	0	0	58	113	55	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.4	4.734145	0.89482	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.46063	0.88;0.88	4.73	4.73	0.59995	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66052	-0.6019	10	0.52906	T	0.07	-11.76	15.1567	0.72749	0.0:1.0:0.0:0.0	.	297;391	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	W	391;144	ENSP00000270357:R391W;ENSP00000403319:R144W	ENSP00000270357:R391W	R	+	1	2	RNPEPL1	241165060	0.998000	0.40836	0.985000	0.45067	0.838000	0.47535	3.322000	0.52007	2.167000	0.68274	0.591000	0.81541	CGG	C|0.999;T|0.000		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		T	241516387	C	T	241516387	3	4	62	1	0	0	0	0	1	0	0	0	13555	759	27	1	1201	1	RNPEPL1	2	241516387	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	53041	241516387	1682986	295	12663											
GPR35	2859	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	241569558	241569558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctacatgaccaacctggcGgtggccgacctctgcctgct	10	15	2	1	rs201529824		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241569558G>A	ENST00000319838.5	+	6	1131	c.189G>A	c.(187-189)gcG>gcA	p.A63A	GPR35_ENST00000438013.2_Silent_p.A94A|GPR35_ENST00000430267.1_Silent_p.A63A|GPR35_ENST00000407714.1_Silent_p.A63A|GPR35_ENST00000403859.1_Silent_p.A63A	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	63					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCAACCTGGCGGTGGCCGACC	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		17909	0		0	False		,,,				2504	0				p.A94A		.											.	GPR35-93	0			c.G282A						.						113	95	101					2																	241569558		2203	4300	6503	SO:0001819	synonymous_variant	2859	exon6			CCTGGCGGTGGCC		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.189G>A	2.37:g.241569558G>A		Somatic	58	1		WXS	Illumina GAIIx	Phase_I	97	49	NM_001195382	0	0	0	0	0	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	CCDS2541.1																																																																																			G|0.999;A|0.000		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		A	241569558	G	A	241569558	2	1	62	1	0	0	0	0	0	0	0	1	6716	1103	39	1		1	GPR35	2	241569558	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	53171	241569558	1629815	296	12664											
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241737134	241737134	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgggaattgaaggggcgGacccgcaccgccaccttcac	12	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241737134G>A	ENST00000320389.7	-	2	194	c.36C>T	c.(34-36)gtC>gtT	p.V12V	KIF1A_ENST00000498729.2_Silent_p.V12V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	12	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGAAGGGGCGGACCCGCACCG	0.617																																					p.V12V		.											.	KIF1A-91	0			c.C36T						.						37	43	41					2																	241737134		2012	4153	6165	SO:0001819	synonymous_variant	547	exon2			GGGGCGGACCCGC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.36C>T	2.37:g.241737134G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	69	30	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	CCDS46561.1																																																																																			.		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241737134	G	A	241737134	2	1	62	1	0	0	0	0	0	0	0	1	8310	1161	41	3		3	KIF1A	2	241737134	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	167576	241737134	1462239	297	12665											
THAP4	51078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242573029	242573029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgactgcctgccaccatGgtggccagtccatctcctgg	10	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:242573029G>A	ENST00000407315.1	-	2	974	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	181							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)		CTGCCACCATGGTGGCCAGTC	0.632																																					p.T181T		.											.	.	0			c.C543T						.						59	61	61					2																	242573029		2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			CACCATGGTGGCC	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.543C>T	2.37:g.242573029G>A		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	87	37	NM_015963	0	0	52	87	35	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																			.		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		A	242573029	G	A	242573029	2	1	62	1	0	0	0	0	0	0	0	1	15893	1335	47	3		3	THAP4	2	242573029	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	835895	242573029	626344	298	12666											
D2HGDH	728294	hgsc.bcm.edu	37	chr2	242674750	242674750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgcagaggctgctgCtccgccccggggacccccga	14	19	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:242674750C>T	ENST00000321264.4	+	2	320	c.111C>T	c.(109-111)tgC>tgT	p.C37C	D2HGDH_ENST00000403782.1_Intron|D2HGDH_ENST00000537090.1_Silent_p.C37C|D2HGDH_ENST00000342518.6_Silent_p.C37C|AC114730.8_ENST00000400768.2_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	37					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GAGGCTGCTGCTCCGCCCCGG	0.751																																					p.C37C		.											.	.	0			c.C111T						.						2	4	3					2																	242674750		1743	3637	5380	SO:0001819	synonymous_variant	728294	exon2			CTGCTGCTCCGCC	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.111C>T	2.37:g.242674750C>T		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	52	28	NM_152783	0	0	2	2	0	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	CCDS33426.1																																																																																			.		0.751	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		T	242674750	C	T	242674750	2	4	62	1	0	0	0	0	0	0	0	1	4222	805	28	3		3	D2HGDH	2	242674750	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	101721	242674750	524623	299	12667											
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	9488930	9488930	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcaactctgtttcaaatgTtaccatcccaagcaccccac	4	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:9488930T>A	ENST00000406341.1	+	13	1911	c.1721T>A	c.(1720-1722)gTt>gAt	p.V574D	SETD5_ENST00000402466.1_Missense_Mutation_p.V476D|SETD5_ENST00000402198.1_Missense_Mutation_p.V574D|SETD5_ENST00000407969.1_Missense_Mutation_p.V593D|SETD5_ENST00000302463.6_Missense_Mutation_p.V476D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	574										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTTTCAAATGTTACCATCCCA	0.463																																					p.V574D		.											.	SETD5-70	0			c.T1721A						.						131	131	131					3																	9488930		1855	4105	5960	SO:0001583	missense	55209	exon14			CAAATGTTACCAT	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1721T>A	3.37:g.9488930T>A	ENSP00000383939:p.Val574Asp	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	50	46	NM_001080517	0	0	0	8	8	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.811|7.811	0.715764|0.715764	0.15306|0.15306	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.92099	.|-2.64;-2.97;-2.64;-2.63;-2.97	5.7|5.7	4.53|4.53	0.55603|0.55603	.|.	.|0.985279	.|0.08292	.|N	.|0.968223	.|D	.|0.87966	.|0.6311	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B	.|0.18610	.|0.029;0.023;0.005;0.005	.|B;B;B;B	.|0.23275	.|0.045;0.026;0.015;0.007	.|T	.|0.77859	.|-0.2431	.|10	.|0.62326	.|D	.|0.03	0.0496|0.0496	6.4713|6.4713	0.22009|0.22009	0.0:0.2269:0.0:0.7731|0.0:0.2269:0.0:0.7731	.|.	.|243;476;574;593	.|B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.|.;.;SETD5_HUMAN;.	X|D	241|574;476;574;593;476	.|ENSP00000385852:V574D;ENSP00000384429:V476D;ENSP00000383939:V574D;ENSP00000384114:V593D;ENSP00000302028:V476D	.|ENSP00000302028:V476D	C|V	+|+	3|2	2|0	SETD5|SETD5	9463930|9463930	0.032000|0.032000	0.19561|0.19561	0.001000|0.001000	0.08648|0.08648	0.231000|0.231000	0.25187|0.25187	1.068000|1.068000	0.30629|0.30629	0.970000|0.970000	0.38263|0.38263	0.533000|0.533000	0.62120|0.62120	TGT|GTT	.		0.463	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		A	9488930	T	A	9488930	3	1	62	1	0	0	0	0	1	0	0	0	14179	1725	60	5	1767	5	SETD5	3	9488930	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10		9488930	188533500	300	12668											
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	15756165	15756166	+	Splice_Site	INS	-	-	G													ggttttcccatctttactctINSggggggggaagaaaaaaatt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:15756165_15756166insG	ENST00000399451.2	-	9	1274		c.e9-2		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	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							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361																																					.		.											.	ANKRD28-135	0			c.445-2->C						.																																			SO:0001630	splice_region_variant	23243	exon10			TTACTCTGGGGGG	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.907-2->C	3.37:g.15756173_15756173dupG		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	17	13	NM_001195098	0	0	0	0	0	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	INS	ENST00000399451.2	37	CCDS46769.1																																																																																			.		0.361	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	G	15756166	-	G	15756165	8	5	62	1	0	1	1	0	0	0	1	0	656	1594	55	0	2336	0	ANKRD28	3	15756165	Splice_Site	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	6267235	15756165	182266265	301	12669											
RFTN1	23180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	16475383	16475383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttttcttgatcaggatggCtctaaagatgtgctccaggg	13	7	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:16475383C>T	ENST00000334133.4	-	3	579	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	RFTN1_ENST00000432519.1_Missense_Mutation_p.A67T	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	103					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCAGGATGGCTCTAAAGATG	0.587																																					p.A103T		.											.	RFTN1-93	0			c.G307A						.						152	159	157					3																	16475383		2203	4300	6503	SO:0001583	missense	23180	exon3			GGATGGCTCTAAA	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.307G>A	3.37:g.16475383C>T	ENSP00000334153:p.Ala103Thr	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	101	80	NM_015150	0	0	10	11	1	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262749	0.95399	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.54	5.54	0.83059	.	0.053928	0.85682	D	0.000000	T	0.63117	0.2484	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65606	-0.6127	10	0.72032	D	0.01	-27.8763	19.0704	0.93134	0.0:1.0:0.0:0.0	.	67;103	G3XAJ6;Q14699	.;RFTN1_HUMAN	T	67;103;103;103;103;103	ENSP00000403926:A67T;ENSP00000334153:A103T;ENSP00000403997:A103T;ENSP00000409427:A103T;ENSP00000388718:A103T;ENSP00000393216:A103T	ENSP00000334153:A103T	A	-	1	0	RFTN1	16450387	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.801000	0.75170	2.607000	0.88179	0.561000	0.74099	GCC	.		0.587	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		T	16475383	C	T	16475383	3	4	62	1	0	0	0	0	1	0	0	0	13303	797	28	3	1461	3	RFTN1	3	16475383	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	719218	16475383	181547047	302	12670											
RBMS3	27303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	29941226	29941226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggatgcctcatccgCcatacgttatgcaaccaaca	6	14	2	0	rs202069394		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:29941226C>T	ENST00000383767.2	+	10	1255	c.919C>T	c.(919-921)Cca>Tca	p.P307S	RBMS3_ENST00000452462.1_Missense_Mutation_p.P307S|RBMS3_ENST00000273139.9_Missense_Mutation_p.P307S|RBMS3_ENST00000456853.1_Missense_Mutation_p.P320S|RBMS3_ENST00000396583.3_Missense_Mutation_p.P320S|RBMS3_ENST00000434693.2_Missense_Mutation_p.P306S|RBMS3_ENST00000383766.2_Intron			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	307					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTCATCCGCCATACGTTAT	0.413													C|||	1	0.000199681	0	0	5008	,	,		18021	0		0.001	False		,,,				2504	0				p.P320S		.											.	RBMS3-90	0			c.C958T						.						162	139	147					3																	29941226		2203	4299	6502	SO:0001583	missense	27303	exon11			CATCCGCCATACG	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.919C>T	3.37:g.29941226C>T	ENSP00000373277:p.Pro307Ser	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	46	28	NM_001177712	0	0	1	1	0	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.57	1.978060	0.34942	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000452462;ENST00000456853	T;T;T;T;T;T	0.28069	1.65;1.67;1.68;1.66;1.66;1.63	5.75	4.88	0.63580	.	0.052981	0.85682	D	0.000000	T	0.16642	0.0400	N	0.10972	0.075	0.36376	D	0.861632	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.20767	0.017;0.031;0.004	T	0.15896	-1.0421	9	.	.	.	.	11.6768	0.51434	0.0:0.8588:0.0:0.1412	.	307;320;307	G5E9J9;Q6XE24-2;Q6XE24	.;.;RBMS3_HUMAN	S	306;320;307;307;307;320	ENSP00000395592:P306S;ENSP00000379828:P320S;ENSP00000373277:P307S;ENSP00000273139:P307S;ENSP00000397926:P307S;ENSP00000400519:P320S	.	P	+	1	0	RBMS3	29916230	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.032000	0.70918	1.435000	0.47434	0.655000	0.94253	CCA	C|0.999;T|0.000		0.413	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		T	29941226	C	T	29941226	3	4	62	1	0	0	0	0	1	0	0	0	13195	739	26	3	1000	3	RBMS3	3	29941226	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	13465843	29941226	168081204	303	12671											
GADL1	339896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	30903251	30903251	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatctcttgttgatcaAtatctcctggaagcaagcaa	7	9	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:30903251A>T	ENST00000282538.5	-	2	194	c.44T>A	c.(43-45)aTt>aAt	p.I15N	GADL1_ENST00000454381.3_Missense_Mutation_p.I15N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	15					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTGTTGATCAATATCTCCTGG	0.393																																					p.I15N		.											.	GADL1-90	0			c.T44A						.						110	95	99					3																	30903251		692	1591	2283	SO:0001583	missense	339896	exon2			TGATCAATATCTC	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.44T>A	3.37:g.30903251A>T	ENSP00000282538:p.Ile15Asn	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	37	27	NM_207359	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	6.661	0.490540	0.12702	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.12039	2.91;2.72	5.41	-10.8	0.00216	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	9	0.17832	T	0.49	.	6.4559	0.21930	0.0883:0.148:0.5287:0.235	.	15	Q6ZQY3	GADL1_HUMAN	N	15	ENSP00000282538:I15N;ENSP00000427059:I15N	ENSP00000282538:I15N	I	-	2	0	GADL1	30878255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.438000	0.00234	-4.084000	0.00075	-1.491000	0.00971	ATT	.		0.393	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		T	30903251	A	T	30903251	3	4	62	1	0	0	0	0	1	0	0	0	6209	101	4	5	1577	5	GADL1	3	30903251	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	962025	30903251	167119179	304	12672											
CMTM8	152189	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	32398985	32398985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtcttcttcctcattAtctacataacaatgacctac	2	14	5	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:32398985A>T	ENST00000307526.3	+	2	562	c.268A>T	c.(268-270)Atc>Ttc	p.I90F	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	90	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTTCCTCATTATCTACATAAC	0.517																																					p.I90F		.											.	CMTM8-90	0			c.A268T						.						167	160	162					3																	32398985		2203	4300	6503	SO:0001583	missense	152189	exon2			CTCATTATCTACA	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.268A>T	3.37:g.32398985A>T	ENSP00000307741:p.Ile90Phe	Somatic	111	2		WXS	Illumina GAIIx	Phase_I	73	52	NM_178868	0	0	6	33	27	A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	A	9.530	1.110646	0.20714	.	.	ENSG00000170293	ENST00000307526	T	0.26957	1.7	5.98	-2.04	0.07343	Marvel (1);MARVEL-like domain (1);	0.436137	0.23720	N	0.045226	T	0.19366	0.0465	L	0.41710	1.295	0.29109	N	0.880999	B	0.23316	0.083	B	0.34038	0.174	T	0.19745	-1.0296	10	0.36615	T	0.2	-6.7542	7.3195	0.26519	0.4839:0.2113:0.3048:0.0	.	90	Q8IZV2	CKLF8_HUMAN	F	90	ENSP00000307741:I90F	ENSP00000307741:I90F	I	+	1	0	CMTM8	32373989	0.986000	0.35501	0.826000	0.32828	0.181000	0.23173	0.560000	0.23500	-0.976000	0.03542	-1.963000	0.00474	ATC	A|1.000;G|0.000		0.517	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868		T	32398985	A	T	32398985	3	4	62	1	0	0	0	0	1	0	0	0	3596	449	16	5	274	5	CMTM8	3	32398985	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1495734	32398985	165623445	305	12673											
FBXL2	25827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	33419633	33419633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggatcttgaagaatgCatcctggtgagtggactcct	12	7	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33419633C>T	ENST00000484457.1	+	12	979	c.888C>T	c.(886-888)tgC>tgT	p.C296C	FBXL2_ENST00000538181.1_Silent_p.C212C|FBXL2_ENST00000507198.1_Silent_p.C228C|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_Silent_p.C6C|FBXL2_ENST00000446237.3_Silent_p.C6C|FBXL2_ENST00000538892.1_Silent_p.C228C	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTGAAGAATGCATCCTGGTGA	0.537																																					p.C296C		.											.	FBXL2-289	0			c.C888T						.						176	147	157					3																	33419633		2203	4300	6503	SO:0001819	synonymous_variant	25827	exon12			AGAATGCATCCTG	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.888C>T	3.37:g.33419633C>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	65	49	NM_012157	0	0	0	0	0		Silent	SNP	ENST00000484457.1	37	CCDS2658.1																																																																																			.		0.537	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		T	33419633	C	T	33419633	2	4	62	1	0	0	0	0	0	0	0	1	5738	718	25	3		3	FBXL2	3	33419633	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1020648	33419633	164602797	306	12674											
UBP1	7342	bcgsc.ca	37	chr3	33458280	33458280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttccattgatctcaggcatAtcacccattttccgattatc	4	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33458280A>T	ENST00000283629.3	-	3	841	c.312T>A	c.(310-312)gaT>gaA	p.D104E	UBP1_ENST00000447368.2_Missense_Mutation_p.D104E|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Missense_Mutation_p.D104E	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	104					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCTCAGGCATATCACCCATTT	0.308																																					p.D104E		.											.	UBP1-537	0			c.T312A						.						109	111	110					3																	33458280		2203	4299	6502	SO:0001583	missense	7342	exon3			AGGCATATCACCC	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.312T>A	3.37:g.33458280A>T	ENSP00000283629:p.Asp104Glu	Somatic	338	5		WXS	Illumina GAIIx	Phase_I	199	144	NM_001128160	0	0	0	0	0	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399121	0.25291	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.73	0.047	0.14278	CP2 transcription factor (1);	0.151943	0.64402	D	0.000017	T	0.08179	0.0204	N	0.20766	0.605	0.27156	N	0.961284	B;B	0.21147	0.009;0.052	B;B	0.30495	0.016;0.116	T	0.23583	-1.0184	10	0.21540	T	0.41	-24.0001	1.1458	0.01775	0.3042:0.175:0.3513:0.1696	.	104;104	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	E	104	ENSP00000283629:D104E;ENSP00000395558:D104E;ENSP00000283628:D104E;ENSP00000401614:D104E	ENSP00000283628:D104E	D	-	3	2	UBP1	33433284	0.278000	0.24230	0.974000	0.42286	0.997000	0.91878	0.166000	0.16583	0.139000	0.18822	0.533000	0.62120	GAT	.		0.308	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		T	33458280	A	T	33458280	3	4	62	1	0	0	0	0	1	0	0	0	16944	446	16	5	1366	5	UBP1	3	33458280	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	38647	33458280	164564150	307	12675											
PDCD6IP	10015	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr3	33883509	33883509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcatccagactgttgaTcagttgattaaagaactgcc	11	8	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33883509T>G	ENST00000307296.3	+	10	1679	c.1302T>G	c.(1300-1302)gaT>gaG	p.D434E	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D439E			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	434	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				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						AGACTGTTGATCAGTTGATTA	0.378																																					p.D439E		.											.	PDCD6IP-228	0			c.T1317G						.						86	84	85					3																	33883509		2203	4300	6503	SO:0001583	missense	10015	exon10			TGTTGATCAGTTG	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.1302T>G	3.37:g.33883509T>G	ENSP00000307387:p.Asp434Glu	Somatic	409	2		WXS	Illumina GAIIx	Phase_I	265	183	NM_001162429	0	0	7	73	66	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	T	5.979	0.364634	0.11296	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.26518	1.73;1.73	4.67	-0.453	0.12201	.	0.049028	0.85682	D	0.000000	T	0.11324	0.0276	N	0.17872	0.535	0.42048	D	0.991105	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.37731	-0.9693	10	0.02654	T	1	-8.9893	9.5593	0.39360	0.0:0.4149:0.0:0.5851	.	215;439;434	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	E	434;439	ENSP00000307387:D434E;ENSP00000411825:D439E	ENSP00000307387:D434E	D	+	3	2	PDCD6IP	33858513	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	1.712000	0.37940	-0.052000	0.13311	0.254000	0.18369	GAT	.		0.378	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			G	33883509	T	G	33883509	3	3	62	1	0	0	0	0	1	0	0	0	11663	1432	50	5	1355	5	PDCD6IP	3	33883509	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	425229	33883509	164138921	308	12676											
MLH1	4292	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	37083763	37083763	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatttttattttcagtgaaGaactgttctaccagatactc	5	8	3	3	rs63751081		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:37083763G>T	ENST00000231790.2	+	15	1888	c.1672G>T	c.(1672-1674)Gaa>Taa	p.E558*	MLH1_ENST00000458205.2_Nonsense_Mutation_p.E317*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.E460*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.E317*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.E317*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.E317*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	558	Interaction with EXO1.				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)|p.?(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						TTTCAGTGAAGAACTGTTCTA	0.348		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.E558X		.	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	.	MLH1-2559	2	Whole gene deletion(1)|Unknown(1)	ovary(1)|breast(1)	c.G1672T	GRCh37	CM990857	MLH1	M		.						215	207	210					3																	37083763		2202	4300	6502	SO:0001587	stop_gained	4292	exon15	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	AGTGAAGAACTGT	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.1672G>T	3.37:g.37083763G>T	ENSP00000231790:p.Glu558*	Somatic	73	2		WXS	Illumina GAIIx	Phase_I	44	33	NM_000249	0	0	0	0	0	B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.553769|10.553769	0.99426|0.99426	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378|ENST00000456676	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.047190|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76378	.|0.3979	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74309	.|-0.3707	.|3	0.87932|.	D|.	0|.	-21.1689|-21.1689	19.4557|19.4557	0.94886|0.94886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs63751081|rs63751081	.|.	.|.	.|.	X|N	558;422;100;317;317;317;460;317|549	.|.	ENSP00000231790:E558X|.	E|K	+|+	1|3	0|2	MLH1|MLH1	37058767|37058767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.813000|8.813000	0.91963|0.91963	2.823000|2.823000	0.97156|0.97156	0.591000|0.591000	0.81541|0.81541	GAA|AAG	.		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37083763	G	T	37083763	4	4	62	1	0	0	0	0	0	1	0	0	9655	943	33	3	1730	3	MLH1	3	37083763	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3200254	37083763	160938667	309	12677											
SCN11A	11280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	38921457	38921457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacaatcacaatgatgaaaTcaaggcagcaccaggcactg	8	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:38921457T>A	ENST00000302328.3	-	19	3575	c.3377A>T	c.(3376-3378)gAt>gTt	p.D1126V	SCN11A_ENST00000450244.1_Missense_Mutation_p.D1126V|SCN11A_ENST00000444237.2_Missense_Mutation_p.D1126V|SCN11A_ENST00000456224.3_Missense_Mutation_p.D1088V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1126					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGATGAAATCAAGGCAGCA	0.438																																					p.D1126V		.											.	SCN11A-99	0			c.A3377T						.						70	64	66					3																	38921457		2203	4300	6503	SO:0001583	missense	11280	exon19			ATGAAATCAAGGC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3377A>T	3.37:g.38921457T>A	ENSP00000307599:p.Asp1126Val	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	52	31	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307510	0.81247	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83	5.53	5.53	0.82687	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96434	0.9321	10	0.87932	D	0	.	15.3302	0.74203	0.0:0.0:0.0:1.0	.	1126	Q9UI33	SCNBA_HUMAN	V	1126;1126;1088;1126	ENSP00000307599:D1126V;ENSP00000400945:D1126V;ENSP00000416757:D1088V;ENSP00000408028:D1126V	ENSP00000307599:D1126V	D	-	2	0	SCN11A	38896461	1.000000	0.71417	0.954000	0.39281	0.895000	0.52256	7.997000	0.88414	2.100000	0.63781	0.477000	0.44152	GAT	.		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		A	38921457	T	A	38921457	3	1	62	1	0	0	0	0	1	0	0	0	13958	1435	50	5	2030	5	SCN11A	3	38921457	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1837694	38921457	159100973	310	12678											
ULK4	54986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	41759264	41759264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgacagatgagaagaTccaggcatttggacaggtat	12	6	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:41759264T>C	ENST00000301831.4	-	23	2873	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	804					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATGAGAAGATCCAGGCATTT	0.483																																					p.D804G		.											.	ULK4-297	0			c.A2411G						.						125	130	128					3																	41759264		2027	4191	6218	SO:0001583	missense	54986	exon23			AGAAGATCCAGGC	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.2411A>G	3.37:g.41759264T>C	ENSP00000301831:p.Asp804Gly	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	68	53	NM_017886	0	0	0	1	1	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892178	0.33442	.	.	ENSG00000168038	ENST00000301831	T	0.66099	-0.19	5.45	4.29	0.51040	Armadillo-type fold (2);	0.325553	0.30473	N	0.009546	T	0.50514	0.1620	L	0.43923	1.385	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40213	-0.9575	10	0.27785	T	0.31	.	9.244	0.37513	0.0:0.1465:0.0:0.8535	.	804	Q96C45	ULK4_HUMAN	G	804	ENSP00000301831:D804G	ENSP00000301831:D804G	D	-	2	0	ULK4	41734268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.141000	0.50593	0.917000	0.36895	0.459000	0.35465	GAT	.		0.483	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		C	41759264	T	C	41759264	3	2	62	1	0	0	0	0	1	0	0	0	17027	1435	50	4	1476	4	ULK4	3	41759264	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2837807	41759264	156263166	311	12679											
HHATL	57467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	42738492	42738492	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcctggccagcactcaCgtttccgcaaagacgtagag	10	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:42738492C>T	ENST00000441594.1	-	8	1272		c.e8+1		HHATL_ENST00000310417.5_Splice_Site	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like						negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGCACTCACGTTTCCGCAA	0.632																																					.		.											.	HHATL-93	0			c.1010+1G>A						.						63	53	56					3																	42738492		2203	4300	6503	SO:0001630	splice_region_variant	57467	exon9			CACTCACGTTTCC	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1010+1G>A	3.37:g.42738492C>T		Somatic	155	0		WXS	Illumina GAIIx	Phase_I	106	86	NM_020707	0	0	0	0	0	Q8TBG3|Q9ULP7	Splice_Site	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.639735	0.47153	.	.	ENSG00000010282	ENST00000426666;ENST00000310417;ENST00000441594;ENST00000341477	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2159	0.86944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HHATL	42713496	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.672000	0.83956	2.129000	0.65627	0.550000	0.68814	.	.		0.632	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	Intron	T	42738492	C	T	42738492	5	4	62	1	0	0	0	0	0	0	1	0	7117	550	19	1	523	1	HHATL	3	42738492	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	979228	42738492	155283938	312	12680											
KIAA1143	57456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	44803069	44803069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggctcggctggccgcacgTacgatacctggttccgcttg	13	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:44803069T>C	ENST00000296121.4	-	1	85	c.26A>G	c.(25-27)tAc>tGc	p.Y9C	KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	9										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TGGCCGCACGTACGATACCTG	0.607																																					p.Y9C		.											.	KIAA1143-90	0			c.A26G						.						30	34	33					3																	44803069		2203	4300	6503	SO:0001583	missense	57456	exon1			CGCACGTACGATA	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.26A>G	3.37:g.44803069T>C	ENSP00000296121:p.Tyr9Cys	Somatic	132	1		WXS	Illumina GAIIx	Phase_I	88	71	NM_020696	0	0	5	39	34	A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	37	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625234	0.46840	.	.	ENSG00000163807	ENST00000296121	T	0.69175	-0.38	5.0	3.8	0.43715	.	0.116409	0.64402	D	0.000007	T	0.78761	0.4334	M	0.82517	2.595	0.51767	D	0.999939	D	0.69078	0.997	P	0.60415	0.874	T	0.80034	-0.1551	9	.	.	.	-2.5886	11.2689	0.49127	0.1369:0.0:0.0:0.8631	.	9	Q96AT1	K1143_HUMAN	C	9	ENSP00000296121:Y9C	.	Y	-	2	0	KIAA1143	44778073	1.000000	0.71417	0.925000	0.36789	0.075000	0.17131	3.966000	0.56795	0.993000	0.38866	0.533000	0.62120	TAC	.		0.607	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		C	44803069	T	C	44803069	3	2	62	1	0	0	0	0	1	0	0	0	8236	1638	57	4	450	4	KIAA1143	3	44803069	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2064577	44803069	153219361	313	12681											
CCR9	10803	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	45942503	45942503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatccttgtctactggTactgcacaagagtgaagacc	9	9	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:45942503T>C	ENST00000357632.2	+	3	403	c.223T>C	c.(223-225)Tac>Cac	p.Y75H	CCR9_ENST00000422395.1_Silent_p.G103G|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.Y63H|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.Y63H|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	75					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTCTACTGGTACTGCACAAG	0.502																																					p.Y75H		.											.	CCR9-660	0			c.T223C						.						307	260	276					3																	45942503		2203	4300	6503	SO:0001583	missense	10803	exon3			TACTGGTACTGCA	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.223T>C	3.37:g.45942503T>C	ENSP00000350256:p.Tyr75His	Somatic	245	2		WXS	Illumina GAIIx	Phase_I	196	144	NM_031200	0	0	0	0	0	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737976	0.30774	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37058	1.22;1.22;1.22	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.317119	0.29846	N	0.011047	T	0.49541	0.1563	L	0.51853	1.615	0.32837	D	0.504782	D	0.65815	0.995	D	0.72982	0.979	T	0.58064	-0.7702	10	0.30078	T	0.28	.	10.0883	0.42432	0.1885:0.0:0.0:0.8115	.	75	P51686	CCR9_HUMAN	H	75;63;63	ENSP00000350256:Y75H;ENSP00000379292:Y63H;ENSP00000348260:Y63H	ENSP00000348260:Y63H	Y	+	1	0	CCR9	45917507	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	2.026000	0.41069	1.939000	0.56221	0.460000	0.39030	TAC	.		0.502	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			C	45942503	T	C	45942503	3	2	62	1	0	0	0	0	1	0	0	0	2955	1638	57	4	229	4	CCR9	3	45942503	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1139434	45942503	152079927	314	12682											
NBEAL2	23218	ucsc.edu;bcgsc.ca	37	chr3	47041809	47041809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctcctggccgccacagctCcagtctctccaatgtgctgg	10	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47041809C>A	ENST00000450053.3	+	27	4399	c.4220C>A	c.(4219-4221)tCc>tAc	p.S1407Y	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1223Y	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1407					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCCACAGCTCCAGTCTCTCC	0.667																																					p.S1407Y		.											.	NBEAL2-69	0			c.C4220A						.						22	26	25					3																	47041809		2054	4190	6244	SO:0001583	missense	23218	exon27			ACAGCTCCAGTCT	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4220C>A	3.37:g.47041809C>A	ENSP00000415034:p.Ser1407Tyr	Somatic	197	3		WXS	Illumina GAIIx	Phase_I	126	96	NM_015175	0	0	0	1	1	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111672|4.111672	0.77210|0.77210	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.59224	.|0.32;0.28	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.137847	.|0.48767	.|D	.|0.000172	T|T	0.71517|0.71517	0.3349|0.3349	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.65010	.|0.931	T|T	0.74463|0.74463	-0.3657|-0.3657	5|10	.|0.87932	.|D	.|0	.|.	16.4043|16.4043	0.83652|0.83652	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1407	.|Q6ZNJ1	.|NBEL2_HUMAN	T|Y	695|1223;1407	.|ENSP00000292309:S1223Y;ENSP00000415034:S1407Y	.|ENSP00000292309:S1223Y	P|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47016813|47016813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	7.435000|7.435000	0.80391|0.80391	2.476000|2.476000	0.83614|0.83614	0.561000|0.561000	0.74099|0.74099	CCA|TCC	.		0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47041809	C	A	47041809	3	1	62	1	0	0	0	0	1	0	0	0	10227	855	30	3	4326	3	NBEAL2	3	47041809	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1099306	47041809	150980621	315	12683											
KLHL18	23276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47378243	47378243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggagcatgaatagcaagAgaaggtattctggaagccac	14	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47378243A>G	ENST00000232766.5	+	7	1137	c.1117A>G	c.(1117-1119)Aga>Gga	p.R373G	KLHL18_ENST00000455924.2_Missense_Mutation_p.R261G	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	373										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAATAGCAAGAGAAGGTATTC	0.557																																					p.R373G		.											.	KLHL18-90	0			c.A1117G						.						72	60	64					3																	47378243		2203	4300	6503	SO:0001583	missense	23276	exon7			AGCAAGAGAAGGT	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1117A>G	3.37:g.47378243A>G	ENSP00000232766:p.Arg373Gly	Somatic	253	0		WXS	Illumina GAIIx	Phase_I	174	134	NM_025010	0	0	0	0	0	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461046	0.63513	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	D;D	0.85556	-2.0;-2.0	5.34	1.55	0.23275	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	H	0.99650	4.68	0.80722	D	1	P;D;P	0.60160	0.871;0.987;0.51	B;D;B	0.67103	0.343;0.949;0.23	D	0.96091	0.9061	10	0.87932	D	0	.	13.9738	0.64257	0.5397:0.4603:0.0:0.0	.	229;373;308	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	G	373;261	ENSP00000232766:R373G;ENSP00000405585:R261G	ENSP00000232766:R373G	R	+	1	2	KLHL18	47353247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.405000	0.34635	0.297000	0.22615	0.402000	0.26972	AGA	.		0.557	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		G	47378243	A	G	47378243	3	3	62	1	0	0	0	0	1	0	0	0	8400	296	11	4	1143	4	KLHL18	3	47378243	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	336434	47378243	150644187	316	12684											
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47458817	47458817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccggccgctgctccgccCcaccacgatgaggttgccct	11	19	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47458817C>A	ENST00000265565.5	-	17	3359	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	SCAP_ENST00000441517.2_Missense_Mutation_p.G727W|SCAP_ENST00000545718.1_Missense_Mutation_p.G590W	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	983	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTGCTCCGCCCCACCACGATG	0.701																																					p.G983W	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.G2947T						.						13	13	13					3																	47458817		2183	4281	6464	SO:0001583	missense	22937	exon17			TCCGCCCCACCAC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2947G>T	3.37:g.47458817C>A	ENSP00000265565:p.Gly983Trp	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	53	43	NM_012235	0	0	4	197	193	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812101	0.90707	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.52983	0.94;1.72;0.64	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64441	-0.6407	10	0.87932	D	0	-31.6247	17.9865	0.89157	0.0:1.0:0.0:0.0	.	727;983	F8W921;Q12770	.;SCAP_HUMAN	W	609;983;727;590	ENSP00000265565:G983W;ENSP00000416847:G727W;ENSP00000438956:G590W	ENSP00000265565:G983W	G	-	1	0	SCAP	47433821	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.280000	0.78610	2.584000	0.87258	0.561000	0.74099	GGG	.		0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		A	47458817	C	A	47458817	3	1	62	1	0	0	0	0	1	0	0	0	13922	623	22	3	920	3	SCAP	3	47458817	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	80574	47458817	150563613	317	12685											
C3orf71	646450	hgsc.bcm.edu	37	chr3	48956411	48956411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgttcgggctcagcgGccgcgaggccgcagctcccg	16	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:48956411G>A	ENST00000408959.2	-	1	407	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000356401.4_5'UTR	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	58						integral component of membrane (GO:0016021)											GGGCTCAGCGGCCGCGAGGCC	0.761																																					p.P58S		.											.	.	0			c.C172T						.						3	4	4					3																	48956411		1114	2753	3867	SO:0001583	missense	646450	exon1			TCAGCGGCCGCGA	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.172C>T	3.37:g.48956411G>A	ENSP00000386193:p.Pro58Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_001123040	0	0	0	9	9		Missense_Mutation	SNP	ENST00000408959.2	37	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988998	0.35131	.	.	ENSG00000221883	ENST00000408959	.	.	.	4.27	2.41	0.29592	.	.	.	.	.	T	0.46639	0.1403	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	P	0.62491	0.903	T	0.50398	-0.8833	8	0.87932	D	0	.	9.3828	0.38325	0.0:0.0:0.6124:0.3876	.	58	Q8N7S6	CC071_HUMAN	S	58	.	ENSP00000386193:P58S	P	-	1	0	C3orf71	48931415	1.000000	0.71417	0.910000	0.35882	0.016000	0.09150	1.464000	0.35288	0.525000	0.28522	0.655000	0.94253	CCG	.		0.761	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		A	48956411	G	A	48956411	3	1	62	1	0	0	0	0	1	0	0	0	2250	1203	42	3	704	3	C3orf71	3	48956411	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1497594	48956411	149066019	318	12686											
UBA7	7318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49846424	49846424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaaactcagcagaagCcgaagccagctctagattac	7	14	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:49846424C>G	ENST00000333486.3	-	18	2490	c.2332G>C	c.(2332-2334)Gct>Cct	p.A778P	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	778					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCAGCAGAAGCCGAAGCCAGC	0.577																																					p.A778P		.											.	UBA7-228	0			c.G2332C						.						24	26	25					3																	49846424		2203	4298	6501	SO:0001583	missense	7318	exon18			CAGAAGCCGAAGC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2332G>C	3.37:g.49846424C>G	ENSP00000333266:p.Ala778Pro	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	76	61	NM_003335	0	0	3	14	11	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865097	0.51482	.	.	ENSG00000182179	ENST00000333486	T	0.42513	0.97	4.58	3.69	0.42338	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.797677	0.11766	N	0.531602	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.24155	0.051	T	0.24870	-1.0148	10	0.39692	T	0.17	-0.2405	11.6781	0.51442	0.0:0.8206:0.1794:0.0	.	778	P41226	UBA7_HUMAN	P	778	ENSP00000333266:A778P	ENSP00000333266:A778P	A	-	1	0	UBA7	49821428	0.007000	0.16637	0.014000	0.15608	0.817000	0.46193	0.860000	0.27871	0.899000	0.36444	0.561000	0.74099	GCT	.		0.577	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		G	49846424	C	G	49846424	3	3	62	1	0	0	0	0	1	0	0	0	16882	739	26	3	734	3	UBA7	3	49846424	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	890013	49846424	148176006	319	12687											
RRP9	9136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	51968549	51968549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacactgccaaagccgcAcacaggagctgtgggagcct	11	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:51968549A>G	ENST00000232888.6	-	13	1272	c.1199T>C	c.(1198-1200)gTg>gCg	p.V400A		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	400					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CCAAAGCCGCACACAGGAGCT	0.642																																					p.V400A		.											.	RRP9-154	0			c.T1199C						.						62	53	56					3																	51968549		2203	4300	6503	SO:0001583	missense	9136	exon13			AGCCGCACACAGG	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1199T>C	3.37:g.51968549A>G	ENSP00000232888:p.Val400Ala	Somatic	338	1		WXS	Illumina GAIIx	Phase_I	244	184	NM_004704	0	0	2	22	20	B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059767	0.76074	.	.	ENSG00000114767	ENST00000232888	D	0.83837	-1.77	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.83603	2.65	0.80722	D	1	P	0.45348	0.856	B	0.43680	0.427	D	0.88052	0.2788	10	0.62326	D	0.03	-15.5852	14.9454	0.71026	1.0:0.0:0.0:0.0	.	400	O43818	U3IP2_HUMAN	A	400	ENSP00000232888:V400A	ENSP00000232888:V400A	V	-	2	0	RRP9	51943589	1.000000	0.71417	0.971000	0.41717	0.974000	0.67602	6.898000	0.75676	2.022000	0.59522	0.379000	0.24179	GTG	.		0.642	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		G	51968549	A	G	51968549	3	3	62	1	0	0	0	0	1	0	0	0	13736	159	6	4	240	4	RRP9	3	51968549	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2122125	51968549	146053881	320	12688											
DUSP7	1849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52085041	52085041	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgtcgttgagtgacaggttCatcttctgcatcagataggc	12	9	4	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52085041C>T	ENST00000495880.1	-	3	1233	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	DUSP7_ENST00000296483.6_Missense_Mutation_p.M299I			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	350	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|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 MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGACAGGTTCATCTTCTGCA	0.552																																					p.M350I		.											.	DUSP7-659	0			c.G1050A						.						135	118	124					3																	52085041		2203	4300	6503	SO:0001583	missense	1849	exon3			CAGGTTCATCTTC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1050G>A	3.37:g.52085041C>T	ENSP00000417183:p.Met350Ile	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	94	73	NM_001947	0	0	3	5	2	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	c	17.43	3.387133	0.61956	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.60040	0.22;0.22	5.75	5.75	0.90469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.108221	0.64402	D	0.000005	T	0.51058	0.1652	L	0.43152	1.355	0.49213	D	0.999762	B	0.16166	0.016	B	0.14578	0.011	T	0.46414	-0.9193	10	0.52906	T	0.07	.	14.1887	0.65623	0.0:0.7365:0.2635:0.0	.	350	Q16829	DUS7_HUMAN	I	350;299	ENSP00000417183:M350I;ENSP00000296483:M299I	ENSP00000296483:M299I	M	-	3	0	DUSP7	52060081	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.398000	0.34554	2.722000	0.93159	0.643000	0.83706	ATG	.		0.552	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		T	52085041	C	T	52085041	3	4	62	1	0	0	0	0	1	0	0	0	4844	826	29	3	213	3	DUSP7	3	52085041	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	116492	52085041	145937389	321	12689											
DUSP7	1849	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	52088242	52088243	+	Frame_Shift_Ins	INS	-	-	T													cactgctgggcagctctcggINStccgactcgccgtcggagca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52088242_52088243insT	ENST00000495880.1	-	2	848_849	c.665_666insA	c.(664-666)gacfs	p.D222fs	DUSP7_ENST00000296483.6_Frame_Shift_Ins_p.D171fs			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				inactivation of MAPK activity (GO:0000188)|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 MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAGCTCTCGGTCCGACTCGCC	0.668																																					p.D222fs		.											.	DUSP7-659	0			c.666_667insA						.																																			SO:0001589	frameshift_variant	1849	exon2			CTCTCGGTCCGAC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.666dupA	3.37:g.52088243_52088243dupT	ENSP00000417183:p.Asp222fs	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	142	105	NM_001947	0	0	0	0	0	Q2M3J7|Q8NFJ0	Frame_Shift_Ins	INS	ENST00000495880.1	37	CCDS33766.2																																																																																			.		0.668	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		T	52088243	-	T	52088242	7	5	62	1	0	1	1	0	0	0	0	0	4844	1252	44	0	601	0	DUSP7	3	52088242	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	3201	52088242	145934188	322	12690	125	2									
DUSP7	1849	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr3	52088244	52088244	+	Missense_Mutation	SNP	C	C	T													actgctgggcagctctcggtCcgactcgccgtcggagcagt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52088244C>T	ENST00000495880.1	-	2	847	c.664G>A	c.(664-666)Gac>Aac	p.D222N	DUSP7_ENST00000296483.6_Missense_Mutation_p.D171N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				inactivation of MAPK activity (GO:0000188)|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 MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTCTCGGTCCGACTCGCCG	0.672																																					p.D222N		.											.	DUSP7-659	0			c.G664A						.						93	87	89					3																	52088244		2203	4300	6503	SO:0001583	missense	1849	exon2			CTCGGTCCGACTC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.664G>A	3.37:g.52088244C>T	ENSP00000417183:p.Asp222Asn	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	144	108	NM_001947	0	0	1	1	0	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	36	5.899541	0.97081	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10573	4.2;4.23;2.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.02852	-1.1102	10	0.39692	T	0.17	.	19.0554	0.93062	0.0:1.0:0.0:0.0	.	171;222	Q16829-2;Q16829	.;DUS7_HUMAN	N	222;171;155	ENSP00000417183:D222N;ENSP00000296483:D171N;ENSP00000418566:D155N	ENSP00000296483:D171N	D	-	1	0	DUSP7	52063284	1.000000	0.71417	0.947000	0.38551	0.905000	0.53344	7.753000	0.85153	2.585000	0.87301	0.549000	0.68633	GAC	.		0.672	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		T	52088244	C	T	52088244	3	4	62	1	0	0	0	0	1	0	0	0	4844	855	30	3	603	3	DUSP7	3	52088244	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2	52088244	145934186	323	12691	125	2									
BAP1	8314	hgsc.bcm.edu;bcgsc.ca	37	chr3	52437564	52437565	+	Frame_Shift_Ins	INS	-	-	A													agcaggctgtcatcctctccINSaaaaagcaccttggagatgt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52437564_52437565insA	ENST00000460680.1	-	13	2067_2068	c.1596_1597insT	c.(1594-1599)tttggafs	p.G533fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.G515fs	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)		TCATCCTCTCCAAAAAGCACCT	0.609			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.G533fs	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1-1032	0			c.1597_1598insT						.																																			SO:0001589	frameshift_variant	8314	exon13			CCTCTCCAAAAAG	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.1597dupT	3.37:g.52437569_52437569dupA	ENSP00000417132:p.Gly533fs	Somatic	188	1		WXS	Illumina GAIIx	Phase_I	123	97	NM_004656	0	0	0	0	0	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Ins	INS	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.609	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52437565	-	A	52437564	7	5	62	1	0	1	1	0	0	0	0	0	1312	603	21	0	612	0	BAP1	3	52437564	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	349320	52437564	145584866	324	12692											
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52438537	52438537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcatcctcatcatctgaGtactgctggggtgggcggac	13	10	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52438537G>A	ENST00000460680.1	-	12	1653	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	BAP1_ENST00000296288.5_Silent_p.Y376Y	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.Y394*(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)		catcATCTGAGTACTGCTGGG	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															p.Y394Y	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1-1032	1	Substitution - Nonsense(1)	pleura(1)	c.C1182T						.						129	97	108					3																	52438537		2203	4300	6503	SO:0001819	synonymous_variant	8314	exon12			ATCTGAGTACTGC	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.1182C>T	3.37:g.52438537G>A		Somatic	133	1		WXS	Illumina GAIIx	Phase_I	103	83	NM_004656	0	0	2	4	2	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52438537	G	A	52438537	2	1	62	1	0	0	0	0	0	0	0	1	1312	1024	36	3		3	BAP1	3	52438537	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	973	52438537	145583893	325	12693											
PHF7	51533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	52457218	52457218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatccgggcctttcttggaCtgattggccagaaccttcct	10	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52457218C>G	ENST00000327906.3	+	11	1691	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	PHF7_ENST00000347025.2_Missense_Mutation_p.T305S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	344						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)		CTTTCTTGGACTGATTGGCCA	0.527																																					p.T344S		.											.	PHF7-153	0			c.C1031G						.						79	81	80					3																	52457218		2203	4300	6503	SO:0001583	missense	51533	exon11			CTTGGACTGATTG	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	ENST00000327906.3:c.1031C>G	3.37:g.52457218C>G	ENSP00000333024:p.Thr344Ser	Somatic	252	1		WXS	Illumina GAIIx	Phase_I	188	152	NM_016483	0	0	1	7	6	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.613|1.613	-0.523443|-0.523443	0.04141|0.04141	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	.|D;D;D	.|0.92545	.|-2.03;-2.03;-3.06	5.3|5.3	-0.0558|-0.0558	0.13808|0.13808	.|.	.|0.747388	.|0.12884	.|N	.|0.431200	D|D	0.84727|0.84727	0.5536|0.5536	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.69584|0.69584	-0.5106|-0.5106	5|10	.|0.22109	.|T	.|0.4	0.1542|0.1542	7.7076|7.7076	0.28659|0.28659	0.4265:0.2955:0.278:0.0|0.4265:0.2955:0.278:0.0	.|.	.|344;344	.|A8K856;Q9BWX1	.|.;PHF7_HUMAN	V|S	289|344;344;305;253	.|ENSP00000419316:T344S;ENSP00000333024:T344S;ENSP00000246282:T305S	.|ENSP00000333024:T344S	L|T	+|+	1|2	2|0	PHF7|PHF7	52432258|52432258	0.140000|0.140000	0.22579|0.22579	0.313000|0.313000	0.25210|0.25210	0.090000|0.090000	0.18270|0.18270	0.687000|0.687000	0.25407|0.25407	0.314000|0.314000	0.23086|0.23086	0.655000|0.655000	0.94253|0.94253	CTG|ACT	.		0.527	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52457218	C	G	52457218	3	3	62	1	0	0	0	0	1	0	0	0	11878	565	20	3	1069	3	PHF7	3	52457218	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	18681	52457218	145565212	326	12694											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52543970	52543970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgtgcccctggcttcaGtggccggttctgcaacgagt	13	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52543970G>A	ENST00000321725.6	+	23	2508	c.2432G>A	c.(2431-2433)aGt>aAt	p.S811N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	811					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)		CCTGGCTTCAGTGGCCGGTTC	0.657																																					p.S811N		.											.	STAB1-139	0			c.G2432A						.						48	51	50					3																	52543970		2203	4297	6500	SO:0001583	missense	23166	exon23			GCTTCAGTGGCCG	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.2432G>A	3.37:g.52543970G>A	ENSP00000312946:p.Ser811Asn	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	134	108	NM_015136	0	0	4	4	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266074	0.23136	.	.	ENSG00000010327	ENST00000321725	T	0.02863	4.13	5.23	1.03	0.20045	.	0.586642	0.17541	N	0.170523	T	0.01870	0.0059	N	0.20357	0.565	0.21915	N	0.999474	B	0.32302	0.363	B	0.30646	0.118	T	0.49995	-0.8879	10	0.23302	T	0.38	.	7.0077	0.24846	0.1966:0.5109:0.2925:0.0	.	811	Q9NY15	STAB1_HUMAN	N	811	ENSP00000312946:S811N	ENSP00000312946:S811N	S	+	2	0	STAB1	52519010	0.017000	0.18338	0.585000	0.28666	0.087000	0.18053	1.473000	0.35387	0.559000	0.29153	-0.211000	0.12701	AGT	.		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52543970	G	A	52543970	3	1	62	1	0	0	0	0	1	0	0	0	15284	1029	36	3	2522	3	STAB1	3	52543970	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	86752	52543970	145478460	327	12695											
FAM116A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	57616494	57616494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaggttagctgaggtcctgTtttctcaagtgttttcataa	10	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:57616494T>A	ENST00000311128.5	-	17	1535	c.1465A>T	c.(1465-1467)Aca>Tca	p.T489S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	489					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGAGGTCCTGTTTTCTCAAGT	0.358																																					p.T489S		.											.	.	0			c.A1465T						.						89	88	88					3																	57616494		2203	4300	6503	SO:0001583	missense	201627	exon17			GTCCTGTTTTCTC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1465A>T	3.37:g.57616494T>A	ENSP00000311401:p.Thr489Ser	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	30	23	NM_152678	0	0	0	6	6	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.333267|1.333267	0.24167|0.24167	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	3.61|3.61	0.41365|0.41365	.|.	.|0.088549	.|0.85682	.|D	.|0.000000	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.03115|0.03115	-0.41|-0.41	0.33862|0.33862	D|D	0.633949|0.633949	.|B	.|0.12630	.|0.006	.|B	.|0.15052	.|0.012	T|T	0.16424|0.16424	-1.0403|-1.0403	5|9	.|0.14656	.|T	.|0.56	-2.536|-2.536	5.986|5.986	0.19434|0.19434	0.0:0.3478:0.0:0.6522|0.0:0.3478:0.0:0.6522	.|.	.|489	.|Q8IWF6	.|F116A_HUMAN	I|S	60|489	.|.	.|ENSP00000311401:T489S	N|T	-|-	2|1	0|0	FAM116A|FAM116A	57591534|57591534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.897000|1.897000	0.39799|0.39799	1.086000|1.086000	0.41228|0.41228	0.455000|0.455000	0.32223|0.32223	AAC|ACA	.		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		A	57616494	T	A	57616494	3	1	62	1	0	0	0	0	1	0	0	0	5426	1725	60	5	377	5	FAM116A	3	57616494	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5072524	57616494	140405936	328	12696											
ABHD6	57406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	58255106	58255106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggacatgagggcaccaCccgctcctccctggatgacc	11	17	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:58255106C>T	ENST00000478253.1	+	5	836	c.335C>T	c.(334-336)aCc>aTc	p.T112I	ABHD6_ENST00000295962.4_Missense_Mutation_p.T112I			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	112					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GAGGGCACCACCCGCTCCTCC	0.542																																					p.T112I		.											.	ABHD6-92	0			c.C335T						.						131	98	109					3																	58255106		2203	4300	6503	SO:0001583	missense	57406	exon4			GCACCACCCGCTC	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.335C>T	3.37:g.58255106C>T	ENSP00000420315:p.Thr112Ile	Somatic	207	1		WXS	Illumina GAIIx	Phase_I	173	135	NM_020676	0	0	0	31	31	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583575	0.86748	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;D;D	0.91351	-0.31;-0.31;-2.83;-2.83	6.03	6.03	0.97812	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.76170	2.325	0.53005	D	0.999964	D;D	0.60575	0.987;0.988	P;P	0.62885	0.908;0.819	D	0.94560	0.7761	10	0.66056	D	0.02	-10.8888	20.1857	0.98214	0.0:1.0:0.0:0.0	.	112;112	Q9BV23;F5H7L1	ABHD6_HUMAN;.	I	112	ENSP00000420315:T112I;ENSP00000295962:T112I;ENSP00000420408:T112I;ENSP00000418934:T112I	ENSP00000295962:T112I	T	+	2	0	ABHD6	58230146	0.997000	0.39634	0.995000	0.50966	0.916000	0.54674	3.693000	0.54735	2.868000	0.98415	0.557000	0.71058	ACC	.		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		T	58255106	C	T	58255106	3	4	62	1	0	0	0	0	1	0	0	0	86	507	18	3	345	3	ABHD6	3	58255106	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	638612	58255106	139767324	329	12697											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133284	64133284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcgggaggaatggccgCcccaggagggatttcttgca	15	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:64133284C>T	ENST00000295902.6	-	7	1467	c.882G>A	c.(880-882)ggG>ggA	p.G294G	PRICKLE2_ENST00000564377.1_Silent_p.G350G	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	294	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAATGGCCGCCCCAGGAGGG	0.552																																					p.G294G		.											.	PRICKLE2-95	0			c.G882A						.						70	75	74					3																	64133284		2203	4300	6503	SO:0001819	synonymous_variant	166336	exon7			TGGCCGCCCCAGG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.882G>A	3.37:g.64133284C>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	81	3	NM_198859	0	0	0	0	0	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																			.		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		T	64133284	C	T	64133284	2	4	62	1	0	0	0	0	0	0	0	1	12529	726	26	3		3	PRICKLE2	3	64133284	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5878178	64133284	133889146	330	12698											
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C													ggtcaccggctccagccgaaGcaaaagcagccagagaagga					rs1403625	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3	4	4		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550756	G	C	66550756	3	2	62	1	0	0	0	0	1	0	0	0	8979	971	34	3	3281	3	LRIG1	3	66550756	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2417472	66550756	131471674	331	12699	126	2									
LRIG1	26018	hgsc.bcm.edu	37	chr3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C													cggctccagccgaagcaaaaGcagccagagaaggagaaggc					rs1403626	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3	4	4		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66550762	G	C	66550762	3	2	62	1	0	0	0	0	1	0	0	0	8979	971	34	3	3287	3	LRIG1	3	66550762	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6	66550762	131471668	332	12700	126	2									
CNTN3	5067	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	74548830	74548830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaatgaggtgatggattGcctcttgcttcacaatgcaa	10	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:74548830G>A	ENST00000263665.6	-	2	189	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	54	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTGATGGATTGCCTCTTGCTT	0.333																																					p.G54G		.											.	CNTN3-137	0			c.C162T						.						91	92	92					3																	74548830		2203	4300	6503	SO:0001819	synonymous_variant	5067	exon2			TGGATTGCCTCTT	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.162C>T	3.37:g.74548830G>A		Somatic	42	1		WXS	Illumina GAIIx	Phase_I	16	14	NM_020872	0	0	0	0	0	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																			.		0.333	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		A	74548830	G	A	74548830	2	1	62	1	0	0	0	0	0	0	0	1	3649	1306	46	3		3	CNTN3	3	74548830	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7998068	74548830	123473600	333	12701											
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	77147394	77147394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgcgcatcgtgcaCgggcgcaggagtaaacctga	12	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:77147394C>T	ENST00000461745.1	+	2	1191	c.291C>T	c.(289-291)caC>caT	p.H97H	ROBO2_ENST00000332191.8_Silent_p.H97H|ROBO2_ENST00000487694.3_Silent_p.H113H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	97	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCATCGTGCACGGGCGCAGGA	0.537																																					p.H97H		.											.	ROBO2-328	0			c.C291T						.						93	97	96					3																	77147394		2040	4194	6234	SO:0001819	synonymous_variant	6092	exon2			CGTGCACGGGCGC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.291C>T	3.37:g.77147394C>T		Somatic	333	0		WXS	Illumina GAIIx	Phase_I	246	206	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																			.		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77147394	C	T	77147394	2	4	62	1	0	0	0	0	0	0	0	1	13559	536	19	1		1	ROBO2	3	77147394	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2598564	77147394	120875036	334	12702											
GBE1	2632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	81635291	81635291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagtcgatagtcaaaaccAccccctccctgggaaattgg	9	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:81635291A>G	ENST00000429644.2	-	10	1930	c.1287T>C	c.(1285-1287)ggT>ggC	p.G429G	GBE1_ENST00000489715.1_Silent_p.G388G	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	429					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)		AGTCAAAACCACCCCCTCCCT	0.398									Glycogen Storage Disease, type IV																												p.G429G		.											.	GBE1-25	0			c.T1287C						.						126	124	125					3																	81635291		1863	4096	5959	SO:0001819	synonymous_variant	2632	exon10	Familial Cancer Database	Andersen Disease, Brancher deficiency	AAAACCACCCCCT		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.1287T>C	3.37:g.81635291A>G		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	34	27	NM_000158	0	0	1	75	74	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			.		0.398	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			G	81635291	A	G	81635291	2	3	62	1	0	0	0	0	0	0	0	1	6295	146	6	4		4	GBE1	3	81635291	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4487897	81635291	116387139	335	12703											
ABI3BP	25890	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	100508327	100508327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgtggcttgtcagatgttCtgggcctcacagtagtataa	12	7	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:100508327C>T	ENST00000284322.5	-	24	2109	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R621K|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1344K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	667	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTCAGATGTTCTGGGCCTCAC	0.413																																					p.R667K		.											.	ABI3BP-138	0			c.G2000A						.						77	70	72					3																	100508327		1862	4110	5972	SO:0001583	missense	25890	exon24			GATGTTCTGGGCC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2000G>A	3.37:g.100508327C>T	ENSP00000284322:p.Arg667Lys	Somatic	77	2		WXS	Illumina GAIIx	Phase_I	42	40	NM_015429	0	0	0	4	4	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.431365|2.431365	0.43122|0.43122	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.25912	.|2.15;1.77;1.77	5.7|5.7	4.83|4.83	0.62350|0.62350	.|.	.|0.384339	.|0.27420	.|N	.|0.019457	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.47716|0.47716	1.5|1.5	0.33053|0.33053	D|D	0.533035|0.533035	.|P;B;B;B	.|0.35612	.|0.512;0.008;0.14;0.091	.|B;B;B;B	.|0.25884	.|0.054;0.015;0.064;0.045	T|T	0.13098|0.13098	-1.0522|-1.0522	5|10	.|0.07325	.|T	.|0.83	-15.7812|-15.7812	10.9651|10.9651	0.47408|0.47408	0.0:0.9134:0.0:0.0866|0.0:0.9134:0.0:0.0866	.|.	.|621;667;1344;351	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	K|K	723;247|1344;667;351;53;621;79	.|ENSP00000420524:R1344K;ENSP00000284322:R667K;ENSP00000373189:R621K	.|ENSP00000284322:R667K	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101991017|101991017	0.992000|0.992000	0.36948|0.36948	0.969000|0.969000	0.41365|0.41365	0.560000|0.560000	0.35617|0.35617	1.957000|1.957000	0.40392|0.40392	1.550000|1.550000	0.49438|0.49438	0.591000|0.591000	0.81541|0.81541	GAA|AGA	.		0.413	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			T	100508327	C	T	100508327	3	4	62	1	0	0	0	0	1	0	0	0	91	913	32	3	1275	3	ABI3BP	3	100508327	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	18873036	100508327	97514103	336	12704											
WDR52	55779	bcgsc.ca	37	chr3	113145006	113145006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtggtatgtttgaatcCagagtcacaaaaggcatcga	10	8	1	2	rs73239107	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:113145006C>T	ENST00000295868.2	-	4	534	c.372G>A	c.(370-372)ctG>ctA	p.L124L	WDR52_ENST00000393845.2_Silent_p.L124L|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGTTTGAATCCAGAGTCACAA	0.403													C|||	1050	0.209665	0.0159	0.2421	5008	,	,		19072	0.4067		0.2107	False		,,,				2504	0.2444				p.L124L		.											.	WDR52-90	0			c.G372A						.	C	,	233,4173	138.8+/-174.5	5,223,1975	235	238	237		372,372	-11.7	0	3	dbSNP_130	237	1633,6967	301.3+/-305.4	155,1323,2822	no	coding-synonymous,coding-synonymous	WDR52	NM_001164496.1,NM_018338.3	,	160,1546,4797	TT,TC,CC		18.9884,5.2882,14.3472	,	124/1855,124/983	113145006	1866,11140	2203	4300	6503	SO:0001819	synonymous_variant	55779	exon4			TGAATCCAGAGTC																												ENST00000295868.2:c.372G>A	3.37:g.113145006C>T		Somatic	159	0		WXS	Illumina GAIIx	Phase_I	118	5	NM_001164496	0	0	0	0	0		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																			C|0.832;T|0.168		0.403	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			T	113145006	C	T	113145006	2	4	62	1	0	0	0	0	0	0	0	1	17353	581	21	3		3	WDR52	3	113145006	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	12636679	113145006	84877424	337	12705											
LSAMP	4045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	115529261	115529261	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctcaccgacccaggtCctgcagagcaaaagaggaga	10	13	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:115529261C>T	ENST00000490035.2	-	7	1419	c.920G>A	c.(919-921)aGa>aAa	p.R307K	LSAMP_ENST00000539563.1_Splice_Site_p.G327E	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	307					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CGACCCAGGTCCTGCAGAGCA	0.498																																					p.R307K		.											.	LSAMP-90	0			c.G920A						.						42	42	42					3																	115529261		2203	4300	6503	SO:0001630	splice_region_variant	4045	exon7			CCAGGTCCTGCAG	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.920-1G>A	3.37:g.115529261C>T		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	130	107	NM_002338	0	0	0	0	0	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.456416|3.456416	0.63401|0.63401	.|.	.|.	ENSG00000185565|ENSG00000185565	ENST00000333617;ENST00000539563|ENST00000490035	T;T|T	0.56941|0.50548	0.46;0.43|0.74	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.304686	.|0.30244	.|N	.|0.010068	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.08118|0.08118	0|0	0.49389|0.49389	D|D	0.999788|0.999788	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.24297|0.24297	-1.0164|-1.0164	7|10	0.72032|0.06757	D|T	0.01|0.87	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|307	.|Q13449	.|LSAMP_HUMAN	E|K	314;327|307	ENSP00000328455:G314E;ENSP00000443429:G327E|ENSP00000419000:R307K	ENSP00000328455:G314E|ENSP00000419000:R307K	G|R	-|-	2|2	0|0	LSAMP|LSAMP	117011951|117011951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.047000|5.047000	0.64232|0.64232	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGA|AGA	.		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	Missense_Mutation	T	115529261	C	T	115529261	5	4	62	1	0	0	0	0	0	0	1	0	9083	869	30	3	100	3	LSAMP	3	115529261	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2384255	115529261	82493169	338	12706											
LRRC58	116064	hgsc.bcm.edu	37	chr3	120068007	120068007	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcctccagctcagactcCagcgtctcggtggacacgct	11	17	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:120068007C>A	ENST00000295628.3	-	1	179	c.84G>T	c.(82-84)ctG>ctT	p.L28L	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	28										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GCTCAGACTCCAGCGTCTCGG	0.741																																					p.L28L		.											.	.	0			c.G84T						.						2	2	2					3																	120068007		1502	3215	4717	SO:0001819	synonymous_variant	116064	exon1			AGACTCCAGCGTC	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.84G>T	3.37:g.120068007C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			.		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		A	120068007	C	A	120068007	2	1	62	1	0	0	0	0	0	0	0	1	9049	581	21	3		3	LRRC58	3	120068007	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4538746	120068007	77954423	339	12707											
LRRC58	116064	hgsc.bcm.edu	37	chr3	120068022	120068022	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccagcgtctcggtggaCacgctgaggcgggaccagtt	15	12	1	1	rs6770482	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:120068022C>G	ENST00000295628.3	-	1	164	c.69G>C	c.(67-69)gtG>gtC	p.V23V	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	23										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTCGGTGGACACGCTGAGGC	0.741													C|||	1050	0.209665	0.3933	0.2968	5008	,	,		12008	0.0962		0.0755	False		,,,				2504	0.1544				p.V23V		.											.	.	0			c.G69C						.	C		576,2498		28,520,989	2	2	2		69	4.5	1	3	dbSNP_116	2	392,6042		8,376,2833	no	coding-synonymous	LRRC58	NM_001099678.1		36,896,3822	GG,GC,CC		6.0926,18.7378,10.1809		23/372	120068022	968,8540	1537	3217	4754	SO:0001819	synonymous_variant	116064	exon1			GGTGGACACGCTG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.69G>C	3.37:g.120068022C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			C|0.826;G|0.174		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		G	120068022	C	G	120068022	2	3	62	1	0	0	0	0	0	0	0	1	9049	465	17	3		3	LRRC58	3	120068022	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	15	120068022	77954408	340	12708											
KALRN	8997	hgsc.bcm.edu;bcgsc.ca	37	chr3	124431854	124431855	+	Frame_Shift_Ins	INS	-	-	A													tggctgtgaaatttgttagcINSaaaaaaatgaagaagaaaga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:124431854_124431855insA	ENST00000291478.5	+	25	3220_3221	c.3057_3058insA	c.(3058-3060)aaafs	p.K1020fs	KALRN_ENST00000428018.2_Frame_Shift_Ins_p.K988fs|KALRN_ENST00000360013.3_Frame_Shift_Ins_p.K2717fs	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2716					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATTTGTTAGCAAAAAAATGAA	0.47																																					p.S2716fs		.											.	KALRN-738	0			c.8148_8149insA						.																																			SO:0001589	frameshift_variant	8997	exon58			TGTTAGCAAAAAA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3064dupA	3.37:g.124431861_124431861dupA	ENSP00000291478:p.Lys1020fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	59	43	NM_001024660	0	0	0	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Ins	INS	ENST00000291478.5	37	CCDS3028.1																																																																																			.		0.47	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		A	124431855	-	A	124431854	7	5	62	1	0	1	1	0	0	0	0	0	8002	709	25	0	8534	0	KALRN	3	124431854	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	4363832	124431854	73590576	341	12709											
OSBPL11	114885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	125298757	125298757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgtttacagtgaaggtgtGagaatcctcatcactgggtg	13	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:125298757G>A	ENST00000296220.5	-	3	650	c.361C>T	c.(361-363)Cac>Tac	p.H121Y		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	121	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GTGAAGGTGTGAGAATCCTCA	0.398																																					p.H121Y		.											.	OSBPL11-135	0			c.C361T						.						142	143	142					3																	125298757		2203	4300	6503	SO:0001583	missense	114885	exon3			AGGTGTGAGAATC	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.361C>T	3.37:g.125298757G>A	ENSP00000296220:p.His121Tyr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	41	32	NM_022776	0	0	0	12	12	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138666	0.77775	.	.	ENSG00000144909	ENST00000296220	T	0.75477	-0.94	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.103999	0.64402	D	0.000004	T	0.73087	0.3542	N	0.16708	0.43	0.80722	D	1	D	0.65815	0.995	D	0.68192	0.956	T	0.65651	-0.6116	10	0.02654	T	1	0.0854	18.6341	0.91371	0.0:0.0:1.0:0.0	.	121	Q9BXB4	OSB11_HUMAN	Y	121	ENSP00000296220:H121Y	ENSP00000296220:H121Y	H	-	1	0	OSBPL11	126781447	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	9.587000	0.98229	2.628000	0.89032	0.655000	0.94253	CAC	.		0.398	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		A	125298757	G	A	125298757	3	1	62	1	0	0	0	0	1	0	0	0	11315	1290	45	3	1926	3	OSBPL11	3	125298757	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	866903	125298757	72723673	342	12710											
ISY1	57461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	128853775	128853775	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatgagctcagcacgTgtctttctgggaggaggaag	14	9	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:128853775T>A	ENST00000393295.3	-	8	758	c.441A>T	c.(439-441)acA>acT	p.T147T	ISY1-RAB43_ENST00000418265.1_Silent_p.T147T|ISY1_ENST00000393292.3_Silent_p.T147T|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Silent_p.T169T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	147					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						GCTCAGCACGTGTCTTTCTGG	0.428																																					p.T169T		.											.	ISY1-90	0			c.A507T						.						110	107	108					3																	128853775		1971	4171	6142	SO:0001819	synonymous_variant	57461	exon9			AGCACGTGTCTTT		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.441A>T	3.37:g.128853775T>A		Somatic	88	0		WXS	Illumina GAIIx	Phase_I	38	27	NM_001199469	0	0	11	53	42	Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	CCDS43149.1																																																																																			.		0.428	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		A	128853775	T	A	128853775	2	1	62	1	0	0	0	0	0	0	0	1	7893	1683	59	5		5	ISY1	3	128853775	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3555018	128853775	69168655	343	12711											
TMCC1	23023	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	129546844	129546844	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctttggggcctctggcttGccccgcctactatgcaagct	10	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:129546844G>T	ENST00000393238.3	-	3	718	c.378C>A	c.(376-378)ggC>ggA	p.G126G	TMCC1_ENST00000426664.2_Silent_p.G12G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	126						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						CCTCTGGCTTGCCCCGCCTAC	0.562																																					p.G126G		.											.	TMCC1-91	0			c.C378A						.						102	94	97					3																	129546844		2203	4300	6503	SO:0001819	synonymous_variant	23023	exon3			TGGCTTGCCCCGC	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.378C>A	3.37:g.129546844G>T		Somatic	95	1		WXS	Illumina GAIIx	Phase_I	59	41	NM_001017395	0	0	1	7	6	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																			.		0.562	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129546844	G	T	129546844	2	4	62	1	0	0	0	0	0	0	0	1	16039	1306	46	3		3	TMCC1	3	129546844	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	693069	129546844	68475586	344	12712											
ATP2C1	27032	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	130720162	130720162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatccagaagcatgttAgttcgacatcatcatctttt	6	8	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:130720162A>C	ENST00000510168.1	+	28	3278	c.2728A>C	c.(2728-2730)Agt>Cgt	p.S910R	ATP2C1_ENST00000504948.1_Missense_Mutation_p.S894R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S910R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S855R|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S910R|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S910R|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S905R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S894R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	910					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGCATGTTAGTTCGACATC	0.378									Hailey-Hailey disease																												p.S944R	Esophageal Squamous(99;456 1443 27647 34099 42636)	.											.	ATP2C1-91	0			c.A2830C						.						167	151	156					3																	130720162		2203	4300	6503	SO:0001583	missense	27032	exon27	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	CATGTTAGTTCGA	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2728A>C	3.37:g.130720162A>C	ENSP00000427461:p.Ser910Arg	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	83	60	NM_001199181	0	0	4	30	26	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.135|2.135	-0.398200|-0.398200	0.04865|0.04865	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000428331;ENST00000359644;ENST00000347421	.|D;D;D;D;D;D;D;D	.|0.92348	.|-2.98;-3.01;-3.02;-2.98;-2.98;-2.98;-2.98;-2.97	5.59|5.59	-0.109|-0.109	0.13584|0.13584	.|.	.|0.648064	.|0.12869	.|N	.|0.432494	D|D	0.86130|0.86130	0.5859|0.5859	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.72956|0.72956	-0.4134|-0.4134	5|10	.|0.33141	.|T	.|0.24	.|.	6.3027|6.3027	0.21121|0.21121	0.6182:0.2457:0.1361:0.0|0.6182:0.2457:0.1361:0.0	.|.	.|905;944;910	.|B4DSW3;B4E2Q0;P98194	.|.;.;AT2C1_HUMAN	F|R	863|894;855;905;910;910;894;910;910;909	.|ENSP00000423774:S894R;ENSP00000425320:S855R;ENSP00000432956:S905R;ENSP00000427461:S910R;ENSP00000424783:S910R;ENSP00000423330:S894R;ENSP00000395809:S910R;ENSP00000352665:S910R	.|ENSP00000306816:S909R	L|S	+|+	3|1	2|0	ATP2C1|ATP2C1	132202852|132202852	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	2.770000|2.770000	0.47662|0.47662	0.113000|0.113000	0.18004|0.18004	0.528000|0.528000	0.53228|0.53228	TTA|AGT	.		0.378	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		C	130720162	A	C	130720162	3	2	62	1	0	0	0	0	1	0	0	0	1144	420	15	5	2834	5	ATP2C1	3	130720162	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1173318	130720162	67302268	345	12713											
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	132179933	132179933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagttattagttcgctcttgGacttccttacctttgccctc	6	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:132179933G>A	ENST00000260818.6	+	15	1845	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	533					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCGCTCTTGGACTTCCTTAC	0.438																																					p.D533N		.											.	DNAJC13-272	0			c.G1597A						.						230	183	199					3																	132179933		2203	4300	6503	SO:0001583	missense	23317	exon15			CTCTTGGACTTCC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1597G>A	3.37:g.132179933G>A	ENSP00000260818:p.Asp533Asn	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	100	81	NM_015268	0	0	1	3	2	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009097	0.93346	.	.	ENSG00000138246	ENST00000260818	T	0.34667	1.35	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.70842	2.15	0.80722	D	1	P;D	0.89917	0.846;1.0	P;D	0.80764	0.571;0.994	T	0.60161	-0.7317	10	0.48119	T	0.1	.	19.596	0.95538	0.0:0.0:1.0:0.0	.	533;533	A7E2Y5;O75165	.;DJC13_HUMAN	N	533	ENSP00000260818:D533N	ENSP00000260818:D533N	D	+	1	0	DNAJC13	133662623	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.694000	0.98686	2.709000	0.92574	0.563000	0.77884	GAC	.		0.438	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		A	132179933	G	A	132179933	3	1	62	1	0	0	0	0	1	0	0	0	4646	1174	41	3	1651	3	DNAJC13	3	132179933	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1459771	132179933	65842497	346	12714											
TF	7018	ucsc.edu;bcgsc.ca	37	chr3	133467410	133467410	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagcctcctaccttgaTtgcatcagggccattgcggt	10	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:133467410T>A	ENST00000402696.3	+	2	683	c.198T>A	c.(196-198)gaT>gaA	p.D66E	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	66	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTACCTTGATTGCATCAGGG	0.473																																					p.D66E		.											.	TF-92	0			c.T198A						.						150	118	129					3																	133467410		2203	4300	6503	SO:0001583	missense	7018	exon2			CCTTGATTGCATC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.198T>A	3.37:g.133467410T>A	ENSP00000385834:p.Asp66Glu	Somatic	299	2		WXS	Illumina GAIIx	Phase_I	216	165	NM_001063	0	0	0	0	0	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	T	2.371	-0.344373	0.05208	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.32753	1.44;1.53	5.11	-9.21	0.00678	.	0.401820	0.30850	N	0.008747	T	0.07234	0.0183	N	0.05259	-0.085	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42275	-0.9461	10	0.02654	T	1	-26.5234	5.4224	0.16407	0.0726:0.3985:0.1233:0.4056	.	66	P02787	TRFE_HUMAN	E	66;22	ENSP00000385834:D66E;ENSP00000417468:D22E	ENSP00000385834:D66E	D	+	3	2	TF	134950100	0.131000	0.22433	0.077000	0.20336	0.030000	0.12068	-1.135000	0.03225	-1.774000	0.01288	-0.371000	0.07208	GAT	.		0.473	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		A	133467410	T	A	133467410	3	1	62	1	0	0	0	0	1	0	0	0	15832	1490	52	5	204	5	TF	3	133467410	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1287477	133467410	64555020	347	12715											
TSC22D2	9819	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	150127417	150127417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcctagatgggcagCtggcagcggcggctgctgct	14	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:150127417C>A	ENST00000361875.3	+	1	1296	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	TSC22D2_ENST00000361136.2_Missense_Mutation_p.L94M	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	94					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)			AGATGGGCAGCTGGCAGCGGC	0.672																																					p.L94M		.											.	TSC22D2-91	0			c.C280A						.						13	16	15					3																	150127417		2199	4295	6494	SO:0001583	missense	9819	exon1			GGGCAGCTGGCAG	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.280C>A	3.37:g.150127417C>A	ENSP00000354543:p.Leu94Met	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	67	54	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.019195	0.54576	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.34472	1.37;1.36	4.44	2.27	0.28462	.	0.470634	0.15951	N	0.236703	T	0.45115	0.1326	L	0.40543	1.245	0.25394	N	0.988503	D;D	0.76494	0.999;0.998	D;D	0.73380	0.98;0.915	T	0.14227	-1.0480	10	0.45353	T	0.12	.	7.8203	0.29284	0.0:0.6591:0.0:0.3409	.	94;94	O75157-2;O75157	.;T22D2_HUMAN	M	94	ENSP00000354543:L94M;ENSP00000354893:L94M	ENSP00000354893:L94M	L	+	1	2	TSC22D2	151610107	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	0.824000	0.27379	0.866000	0.35629	0.645000	0.84053	CTG	.		0.672	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		A	150127417	C	A	150127417	3	1	62	1	0	0	0	0	1	0	0	0	16656	796	28	3	282	3	TSC22D2	3	150127417	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	16660007	150127417	47895013	348	12716											
CCNL1	57018	hgsc.bcm.edu;mdanderson.org	37	chr3	156877880	156877880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgaatgaggcccggacgCcatagtcttagcgagccgca	13	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:156877880C>T	ENST00000295926.3	-	1	122	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	CCNL1_ENST00000295925.4_Missense_Mutation_p.A2T|CCNL1_ENST00000461804.1_Missense_Mutation_p.A2T	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	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)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GGCCCGGACGCCATAGTCTTA	0.677																																					p.A2T		.											.	CCNL1-659	0			c.G4A						.						4	6	5					3																	156877880		2041	4081	6122	SO:0001583	missense	57018	exon1			CGGACGCCATAGT	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.4G>A	3.37:g.156877880C>T	ENSP00000295926:p.Ala2Thr	Somatic	8	0		WXS	Illumina GAIIx	Phase_I	38	30	NM_020307	0	0	0	9	9	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521148	0.64747	.	.	ENSG00000163660	ENST00000461804;ENST00000295926;ENST00000295925	T;T;T	0.52754	1.72;1.78;0.65	4.1	4.1	0.47936	.	1.131440	0.07255	U	0.866603	T	0.41442	0.1159	L	0.29908	0.895	0.28714	N	0.903376	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.33111	-0.9881	10	0.87932	D	0	-10.552	13.701	0.62608	0.0:1.0:0.0:0.0	.	2;2	Q9UK58;C9JPL0	CCNL1_HUMAN;.	T	2	ENSP00000420277:A2T;ENSP00000295926:A2T;ENSP00000295925:A2T	ENSP00000295925:A2T	A	-	1	0	CCNL1	158360574	0.984000	0.35163	1.000000	0.80357	0.759000	0.43091	0.378000	0.20569	2.256000	0.74724	0.650000	0.86243	GCG	.		0.677	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		T	156877880	C	T	156877880	3	4	62	1	0	0	0	0	1	0	0	0	2938	739	26	3	1620	3	CCNL1	3	156877880	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6750463	156877880	41144550	349	12717											
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	164905717	164905717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgtcttctccaggacttCgaggtaatccggcttggttt	11	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:164905717C>T	ENST00000475390.1	-	2	3345	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E968K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	968					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E968*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)																											p.E968K		.											.	SLITRK3-100	1	Substitution - Nonsense(1)	ovary(1)	c.G2902A						.						135	134	134					3																	164905717		2203	4300	6503	SO:0001583	missense	22865	exon2			GGACTTCGAGGTA	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2902G>A	3.37:g.164905717C>T	ENSP00000420091:p.Glu968Lys	Somatic	130	1		WXS	Illumina GAIIx	Phase_I	73	55	NM_014926	0	0	0	0	0	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708598	0.68615	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.65916	-0.18;-0.18	5.97	5.97	0.96955	.	0.000000	0.35708	N	0.003029	T	0.76248	0.3961	L	0.49778	1.585	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.76313	-0.3005	10	0.87932	D	0	-13.5308	20.4388	0.99107	0.0:1.0:0.0:0.0	.	968	O94933	SLIK3_HUMAN	K	968	ENSP00000420091:E968K;ENSP00000241274:E968K	ENSP00000241274:E968K	E	-	1	0	SLITRK3	166388411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.836000	0.97738	0.655000	0.94253	GAA	.		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164905717	C	T	164905717	3	4	62	1	0	0	0	0	1	0	0	0	14789	893	31	1	35	1	SLITRK3	3	164905717	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8027837	164905717	33116713	350	12718											
PDCD10	11235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	167414893	167414893	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cataatgatgtcttgtgtgaGacctggattttctttttcag	9	6	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:167414893G>C	ENST00000392750.2	-	5	589	c.172C>G	c.(172-174)Ctc>Gtc	p.L58V	PDCD10_ENST00000473645.2_Missense_Mutation_p.L58V|PDCD10_ENST00000471885.1_Missense_Mutation_p.L58V|PDCD10_ENST00000497056.2_Missense_Mutation_p.L58V|PDCD10_ENST00000470131.1_Missense_Mutation_p.L58V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000461494.1_Missense_Mutation_p.L58V|PDCD10_ENST00000487947.2_Missense_Mutation_p.L58V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	58					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TCTTGTGTGAGACCTGGATTT	0.328																																					p.L58V		.											.	PDCD10-659	0			c.C172G						.						82	85	84					3																	167414893		2202	4300	6502	SO:0001583	missense	11235	exon4			GTGTGAGACCTGG	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.172C>G	3.37:g.167414893G>C	ENSP00000376506:p.Leu58Val	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	15	10	NM_145860	0	0	1	16	15	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.88|19.88	3.909628|3.909628	0.72868|0.72868	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360|ENST00000479121	T;T;T;T;T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70237|0.70237	0.3201|0.3201	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.37198|.	0.243|.	T|T	0.63980|0.63980	-0.6514|-0.6514	10|5	0.59425|.	D|.	0.04|.	-16.7352|-16.7352	20.2768|20.2768	0.98488|0.98488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58|.	Q9BUL8|.	PDC10_HUMAN|.	V|C	58|38	ENSP00000376506:L58V;ENSP00000418317:L58V;ENSP00000420553:L58V;ENSP00000420021:L58V;ENSP00000417202:L58V;ENSP00000417118:L58V;ENSP00000420266:L58V;ENSP00000417876:L58V;ENSP00000420424:L58V;ENSP00000420014:L58V;ENSP00000418160:L58V|.	ENSP00000376506:L58V|.	L|S	-|-	1|2	0|0	PDCD10|PDCD10	168897587|168897587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.518000|7.518000	0.81795|0.81795	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	CTC|TCT	.		0.328	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		C	167414893	G	C	167414893	3	2	62	1	0	0	0	0	1	0	0	0	11655	942	33	3	486	3	PDCD10	3	167414893	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2509176	167414893	30607537	351	12719											
LRRC34	151827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	169514632	169514632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttacacatgtgtagtGcaacaagacagtgattttct	8	8	1	2	rs201395437		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:169514632G>A	ENST00000316515.7	-	7	950	c.674C>T	c.(673-675)gCa>gTa	p.A225V	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.A209V|LRRC34_ENST00000522526.2_Missense_Mutation_p.A238V|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.A270V	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	225										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CATGTGTAGTGCAACAAGACA	0.368																																					p.A270V		.											.	LRRC34-90	0			c.C809T						.						138	120	126					3																	169514632		2203	4300	6503	SO:0001583	missense	151827	exon8			TGTAGTGCAACAA	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.674C>T	3.37:g.169514632G>A	ENSP00000326150:p.Ala225Val	Somatic	167	0		WXS	Illumina GAIIx	Phase_I	70	52	NM_001172779	0	0	1	1	0	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	G	8.197	0.797357	0.16327	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.89	5.97	0.773	0.18516	.	0.216934	0.56097	N	0.000037	T	0.22003	0.0530	N	0.10685	0.025	0.22521	N	0.999025	B;B;B;B;B	0.26318	0.001;0.094;0.0;0.001;0.146	B;B;B;B;B	0.20767	0.001;0.031;0.002;0.003;0.026	T	0.20773	-1.0265	10	0.15499	T	0.54	-7.9416	10.204	0.43101	0.1062:0.0:0.3867:0.5071	.	257;209;209;270;225	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	V	270;225;209;238;19	ENSP00000414635:A270V;ENSP00000326150:A225V;ENSP00000429593:A209V;ENSP00000429278:A238V;ENSP00000436883:A19V	ENSP00000326150:A225V	A	-	2	0	LRRC34	170997326	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	2.274000	0.43390	-0.128000	0.11641	-1.772000	0.00662	GCA	G|0.999;A|0.001		0.368	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		A	169514632	G	A	169514632	3	1	62	1	0	0	0	0	1	0	0	0	9024	1319	46	3	623	3	LRRC34	3	169514632	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2099739	169514632	28507798	352	12720											
GHSR	2693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	172165571	172165571	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggacacccacaccatgacCgtgagcagtccagagcgcac	10	16	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:172165571C>A	ENST00000241256.2	-	1	675	c.633G>T	c.(631-633)acG>acT	p.T211T	GHSR_ENST00000427970.1_Silent_p.T211T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	211					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACACCATGACCGTGAGCAGTC	0.617																																					p.T211T	Esophageal Squamous(93;641 1401 20883 29581 34638)	.											.	GHSR-501	0			c.G633T						.						62	48	53					3																	172165571		2203	4300	6503	SO:0001819	synonymous_variant	2693	exon1			CATGACCGTGAGC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.633G>T	3.37:g.172165571C>A		Somatic	210	1		WXS	Illumina GAIIx	Phase_I	121	95	NM_198407	0	0	0	0	0	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																			.		0.617	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		A	172165571	C	A	172165571	2	1	62	1	0	0	0	0	0	0	0	1	6401	639	23	2		2	GHSR	3	172165571	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2650939	172165571	25856859	353	12721											
NAALADL2	254827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	175165096	175165096	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcacccctcgttgcaaaactGatctcttcgccaaaagctag	7	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:175165096G>T	ENST00000454872.1	+	6	1298	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTGCAAAACTGATCTCTTCGC	0.398																																					p.L390L		.											.	NAALADL2-47	0			c.G1170T						.						66	63	64					3																	175165096		1877	4123	6000	SO:0001819	synonymous_variant	254827	exon6			AAAACTGATCTCT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1170G>T	3.37:g.175165096G>T		Somatic	60	0		WXS	Illumina GAIIx	Phase_I	48	39	NM_207015	0	0	0	4	4	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.398	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		T	175165096	G	T	175165096	2	4	62	1	0	0	0	0	0	0	0	1	10168	1277	45	3		3	NAALADL2	3	175165096	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2999525	175165096	22857334	354	12722											
ATP11B	23200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	182538053	182538053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgattggtcttagggtttTgacccaccacatcagagtga	10	9	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:182538053T>C	ENST00000323116.5	+	2	293	c.33T>C	c.(31-33)ttT>ttC	p.F11F	ATP11B_ENST00000493826.1_Silent_p.F11F	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	11					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)			CTTAGGGTTTTGACCCACCAC	0.383																																					p.F11F		.											.	ATP11B-93	0			c.T33C						.						106	96	100					3																	182538053		2203	4300	6503	SO:0001819	synonymous_variant	23200	exon2			GGGTTTTGACCCA	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.33T>C	3.37:g.182538053T>C		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	62	52	NM_014616	0	0	0	0	0	Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	CCDS33896.1																																																																																			.		0.383	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		C	182538053	T	C	182538053	2	2	62	1	0	0	0	0	0	0	0	1	1121	1809	63	4		4	ATP11B	3	182538053	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	7372957	182538053	15484377	355	12723											
ALG3	10195	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183962454	183962454	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaaactgtgtgaggagaaGaaacagtaacccaggggcga	14	8	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:183962454G>A	ENST00000397676.3	-	5	691	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Missense_Mutation_p.L181F|ALG3_ENST00000445626.2_Missense_Mutation_p.L173F|ALG3_ENST00000418734.2_Missense_Mutation_p.L165F	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	221					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAGGAGAAGAAACAGTAAC	0.577																																					p.L221F		.											.	.	0			c.C661T						.						51	55	54					3																	183962454		2045	4181	6226	SO:0001583	missense	10195	exon5			GGAGAAGAAACAG	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.661C>T	3.37:g.183962454G>A	ENSP00000380793:p.Leu221Phe	Somatic	43	1		WXS	Illumina GAIIx	Phase_I	26	18	NM_005787	0	0	4	64	60	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.147756|4.147756	0.78001|0.78001	.|.	.|.	ENSG00000214160|ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059|ENST00000446569	D;D;D;D|.	0.89343|.	-2.5;-2.5;-2.5;-2.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	1.0;1.0;0.642;1.0|.	D;D;B;D|.	0.97110|.	0.999;1.0;0.444;1.0|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.27082|.	T|.	0.32|.	-10.9572|-10.9572	17.86|17.86	0.88778|0.88778	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;165;181;221|.	A8JZZ6;B4DS50;C9J7S5;Q92685|.	.;.;.;ALG3_HUMAN|.	F|F	165;221;173;181|124	ENSP00000402976:L165F;ENSP00000380793:L221F;ENSP00000402744:L173F;ENSP00000397613:L181F|.	ENSP00000380793:L221F|.	L|S	-|-	1|2	0|0	ALG3|ALG3	185445148|185445148	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.987000|0.987000	0.75469|0.75469	6.392000|6.392000	0.73213|0.73213	2.451000|2.451000	0.82905|0.82905	0.462000|0.462000	0.41574|0.41574	CTT|TCT	.		0.577	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		A	183962454	G	A	183962454	3	1	62	1	0	0	0	0	1	0	0	0	520	942	33	3	675	3	ALG3	3	183962454	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1424401	183962454	14059976	356	12724											
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	184049834	184049834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagctacaggcgctctaCgccctccaggcccttgtagt	11	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:184049834C>T	ENST00000346169.2	+	32	4849	c.4578C>T	c.(4576-4578)taC>taT	p.Y1526Y	EIF4G1_ENST00000441154.1_Silent_p.Y1363Y|EIF4G1_ENST00000382330.3_Silent_p.Y1533Y|EIF4G1_ENST00000319274.6_Silent_p.Y1526Y|EIF4G1_ENST00000411531.1_Silent_p.Y1487Y|EIF4G1_ENST00000342981.4_Silent_p.Y1527Y|EIF4G1_ENST00000435046.2_Silent_p.Y1330Y|EIF4G1_ENST00000350481.5_Silent_p.Y1362Y|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Silent_p.Y1440Y|EIF4G1_ENST00000424196.1_Silent_p.Y1533Y|EIF4G1_ENST00000434061.2_Silent_p.Y1331Y|EIF4G1_ENST00000414031.1_Silent_p.Y1486Y|EIF4G1_ENST00000352767.3_Silent_p.Y1533Y|EIF4G1_ENST00000392537.2_Silent_p.Y1439Y	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1526	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				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)			AGGCGCTCTACGCCCTCCAGG	0.602																																					p.Y1533Y		.											.	EIF4G1-344	0			c.C4599T						.						57	54	55					3																	184049834		2203	4300	6503	SO:0001819	synonymous_variant	1981	exon33			GCTCTACGCCCTC	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.4578C>T	3.37:g.184049834C>T		Somatic	185	0		WXS	Illumina GAIIx	Phase_I	114	6	NM_001194946	0	1	267	287	19	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																			.		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		T	184049834	C	T	184049834	2	4	62	1	0	0	0	0	0	0	0	1	5052	547	19	1		1	EIF4G1	3	184049834	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	87380	184049834	13972596	357	12725											
POLR2H	5437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	184083008	184083008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccccactgatgataggcCttccaggtgagggagtggag	14	10	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:184083008C>T	ENST00000456318.1	+	4	1294	c.245C>T	c.(244-246)cCt>cTt	p.P82L	POLR2H_ENST00000296223.3_Missense_Mutation_p.P82L|POLR2H_ENST00000429568.1_Missense_Mutation_p.P82L|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_Missense_Mutation_p.P46L|POLR2H_ENST00000430783.1_Missense_Mutation_p.P82L|POLR2H_ENST00000452961.1_Missense_Mutation_p.P46L|POLR2H_ENST00000443489.1_Missense_Mutation_p.P46L	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	82					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 I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase 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 I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGATAGGCCTTCCAGGTGA	0.403																																					p.P82L		.											.	POLR2H-90	0			c.C245T						.						159	147	151					3																	184083008		2203	4300	6503	SO:0001583	missense	5437	exon3			ATAGGCCTTCCAG		CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.245C>T	3.37:g.184083008C>T	ENSP00000392913:p.Pro82Leu	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	101	76	NM_006232	0	0	0	1	1	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	ENST00000456318.1	37	CCDS3264.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880133	0.72294	.	.	ENSG00000163882	ENST00000456318;ENST00000438240;ENST00000455712;ENST00000430783;ENST00000443489;ENST00000452961;ENST00000296223;ENST00000429568	.	.	.	5.81	5.81	0.92471	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.61703	1.905	0.80722	D	1	P	0.37061	0.58	B	0.39738	0.308	T	0.63765	-0.6563	9	0.40728	T	0.16	-14.7711	17.5771	0.87953	0.0:1.0:0.0:0.0	.	82	P52434	RPAB3_HUMAN	L	82;46;82;82;46;46;82;82	.	ENSP00000296223:P82L	P	+	2	0	POLR2H	185565702	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.468000	0.80943	2.756000	0.94617	0.655000	0.94253	CCT	.		0.403	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		T	184083008	C	T	184083008	3	4	62	1	0	0	0	0	1	0	0	0	12260	681	24	3	255	3	POLR2H	3	184083008	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	33174	184083008	13939422	358	12726											
FGF12	2257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	192053209	192053209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctagccttcactccttGgatggccactacacgcaggc	11	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:192053209G>A	ENST00000454309.2	-	3	1180	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	FGF12_ENST00000264730.3_Nonsense_Mutation_p.Q57*|FGF12_ENST00000450716.1_Nonsense_Mutation_p.Q57*|FGF12_ENST00000430714.1_Nonsense_Mutation_p.Q20*|FGF12_ENST00000445105.2_Nonsense_Mutation_p.Q57*	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	119					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCACTCCTTGGATGGCCACT	0.458																																					p.Q119X		.											.	FGF12-949	0			c.C355T						.						97	83	88					3																	192053209		2203	4300	6503	SO:0001587	stop_gained	2257	exon3			CTCCTTGGATGGC	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.355C>T	3.37:g.192053209G>A	ENSP00000413496:p.Gln119*	Somatic	200	0		WXS	Illumina GAIIx	Phase_I	167	136	NM_021032	0	0	0	0	0	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Nonsense_Mutation	SNP	ENST00000454309.2	37	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	G	40	8.205644	0.98704	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.9208	0.86164	0.0:0.0:1.0:0.0	.	.	.	.	X	57;57;57;119;57;20;33;57	.	ENSP00000264730:Q57X	Q	-	1	0	FGF12	193535903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.573000	0.86826	0.655000	0.94253	CAA	.		0.458	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		A	192053209	G	A	192053209	4	1	62	1	0	0	0	0	0	1	0	0	5863	1357	47	3	388	3	FGF12	3	192053209	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7970201	192053209	5969221	359	12727											
ATP13A3	79572	bcgsc.ca	37	chr3	194162115	194162115	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttttgtaagtgaatgAcaagtagccatacaagcaac	7	7	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:194162115A>T	ENST00000439040.1	-	16	2426	c.1635T>A	c.(1633-1635)tgT>tgA	p.C545*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.C545*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	545						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)		TAAGTGAATGACAAGTAGCCA	0.358																																					p.C545X		.											.	ATP13A3-69	0			c.T1635A						.						107	101	103					3																	194162115		1834	4096	5930	SO:0001587	stop_gained	79572	exon15			TGAATGACAAGTA	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.1635T>A	3.37:g.194162115A>T	ENSP00000416508:p.Cys545*	Somatic	234	5		WXS	Illumina GAIIx	Phase_I	108	74	NM_024524	0	0	0	1	1	Q8NC11|Q96KS1	Nonsense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	41	9.137340	0.99078	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	.	.	.	5.23	-0.307	0.12777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0897	10.6139	0.45439	0.5449:0.0:0.4551:0.0	.	.	.	.	X	545;545;283	.	ENSP00000256031:C545X	C	-	3	2	ATP13A3	195643404	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.253000	0.43205	0.032000	0.15435	-0.353000	0.07706	TGT	.		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194162115	A	T	194162115	4	4	62	1	0	0	0	0	0	1	0	0	1126	273	10	5	2117	5	ATP13A3	3	194162115	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2108906	194162115	3860315	360	12728											
PIGG	54872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	527709	527709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacagcgtttgggacgTacgcagggcctgtgctgtgg	16	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607																																					p.Y892H		.											.	PIGG-92	0			c.T2674C						.						90	78	82					4																	527709		2203	4300	6503	SO:0001583	missense	54872	exon12			GGGACGTACGCAG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2674T>C	4.37:g.527709T>C	ENSP00000415203:p.Tyr892His	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	301	112	NM_001127178	0	0	23	50	27	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC	.		0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		C	527709	T	C	527709	3	2	62	1	0	0	0	0	1	0	0	0	11927	1638	57	4	2720	4	PIGG	4	527709	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10		527709	190626567	361	12729											
IDUA	3425	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	996231	996231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcacgtgcagctgttgCgcaagccggtgctcacggcc	14	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:996231C>T	ENST00000247933.4	+	8	1235	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	IDUA_ENST00000514224.1_Missense_Mutation_p.R251C|IDUA_ENST00000453894.1_Missense_Mutation_p.R405C	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	383			R -> H (in MPS1S; 2-3% of normal activity). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGCTGTTGCGCAAGCCGGT	0.736																																					p.R383C		.											.	IDUA-91	0			c.C1147T						.						7	9	8					4																	996231		2038	4116	6154	SO:0001583	missense	3425	exon8			CTGTTGCGCAAGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1147C>T	4.37:g.996231C>T	ENSP00000247933:p.Arg383Cys	Somatic	36	1		WXS	Illumina GAIIx	Phase_I	183	87	NM_000203	0	0	4	8	4	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199476	0.58126	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.95205	-3.64;-3.62;-3.64	5.31	4.41	0.53225	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052977	0.64402	D	0.000001	D	0.96651	0.8907	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96248	0.9181	10	0.62326	D	0.03	-9.0273	10.4309	0.44407	0.3124:0.6876:0.0:0.0	.	405;383	B3KWK6;P35475	.;IDUA_HUMAN	C	383;405;251	ENSP00000247933:R383C;ENSP00000396458:R405C;ENSP00000425081:R251C	ENSP00000247933:R383C	R	+	1	0	IDUA	986231	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	1.301000	0.33447	2.503000	0.84419	0.555000	0.69702	CGC	.		0.736	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		T	996231	C	T	996231	3	4	62	1	0	0	0	0	1	0	0	0	7531	768	27	1	1177	1	IDUA	4	996231	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	468522	996231	190158045	362	12730											
SPON2	10417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1164348	1164348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagttggccgggtggctgGgagaggaggacgttatctgg	21	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1164348G>A	ENST00000290902.5	-	5	985	c.653C>T	c.(652-654)cCc>cTc	p.P218L	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Missense_Mutation_p.P218L	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	218	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				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)		CGGGTGGCTGGGAGAGGAGGA	0.657																																					p.P218L		.											.	SPON2-90	0			c.C653T						.						96	97	97					4																	1164348		2202	4299	6501	SO:0001583	missense	10417	exon5			TGGCTGGGAGAGG	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.653C>T	4.37:g.1164348G>A	ENSP00000290902:p.Pro218Leu	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	119	47	NM_012445	0	0	13	13	0	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677670	0.88445	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.56941	0.43;0.43	5.16	5.16	0.70880	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81090	-0.1090	10	0.87932	D	0	.	18.2197	0.89897	0.0:0.0:1.0:0.0	.	218;218	D3DVN9;Q9BUD6	.;SPON2_HUMAN	L	218	ENSP00000290902:P218L;ENSP00000394832:P218L	ENSP00000290902:P218L	P	-	2	0	SPON2	1154348	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	9.288000	0.96055	2.403000	0.81681	0.609000	0.83330	CCC	.		0.657	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			A	1164348	G	A	1164348	3	1	62	1	0	0	0	0	1	0	0	0	15130	1232	43	3	350	3	SPON2	4	1164348	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	168117	1164348	189989928	363	12731											
CRIPAK	285464	hgsc.bcm.edu	37	chr4	1388974	1388974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctcacacgtgccgaTgcggagtgcccgcctgctca	12	17	2	0	rs71614969	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177	128	145					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	37	15	NM_175918	0	0	2	13	11	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		C	1388974	T	C	1388974	2	2	62	1	0	0	0	0	0	0	0	1	3884	1461	51	4		4	CRIPAK	4	1388974	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	224626	1388974	189765302	364	12732											
WHSC2	7469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	1989663	1989663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtggtgtccatcttccGcagcagcccccggcccttgg	12	16	1	0	rs145121989		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1989663G>A	ENST00000411638.2	-	4	631	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.R71W|NELFA_ENST00000382882.3_Missense_Mutation_p.R217W	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	206	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R206W(1)									TCCATCTTCCGCAGCAGCCCC	0.657																																					p.R217W		.											.	.	1	Substitution - Missense(1)	endometrium(1)	c.C649T						.	G	TRP/ARG	0,4402		0,0,2201	32	34	34		649	2.2	0.9	4	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	WHSC2	NM_005663.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	217/540	1989663	1,13001	2201	4300	6501	SO:0001583	missense	7469	exon4			TCTTCCGCAGCAG	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.616C>T	4.37:g.1989663G>A	ENSP00000399165:p.Arg206Trp	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	41	24	NM_005663	0	1	12	38	25	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.619288	0.87460	0.0	1.16E-4	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T	0.61274	0.24;0.12;0.3;0.25	5.27	2.23	0.28157	.	0.051646	0.85682	D	0.000000	T	0.62612	0.2442	L	0.58810	1.83	0.45035	D	0.99805	D	0.60160	0.987	P	0.56751	0.805	T	0.62886	-0.6759	10	0.87932	D	0	-27.8151	7.803	0.29185	0.0:0.1208:0.3556:0.5235	.	206	Q9H3P2	NELFA_HUMAN	W	217;210;71;206;222;136	ENSP00000372335:R217W;ENSP00000387647:R210W;ENSP00000445757:R71W;ENSP00000399165:R206W	ENSP00000372335:R217W	R	-	1	2	WHSC2	1959461	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	3.888000	0.56204	0.602000	0.29896	0.563000	0.77884	CGG	G|1.000;A|0.000		0.657	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		A	1989663	G	A	1989663	3	1	62	1	0	0	0	0	1	0	0	0	17413	1086	38	1	1002	1	WHSC2	4	1989663	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	600689	1989663	189164613	365	12733											
TNIP2	79155	hgsc.bcm.edu	37	chr4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctgctcccggaagcGcgcaacctgctccagcagcg	12	17	0	0	rs74548850	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5	7	6		217	2.8	1	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	16	NM_024309	0	0	8	10	2		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		C	2757800	G	C	2757800	3	2	62	1	0	0	0	0	1	0	0	0	16362	1087	38	2	1096	2	TNIP2	4	2757800	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	768137	2757800	188396476	366	12734											
NOP14	8602	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	2948138	2948138	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagactgaactctgcttaCcacatccaaccctggcaatg	6	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:2948138C>A	ENST00000314262.6	-	11	1684		c.e11+1		NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Splice_Site|NOP14_ENST00000416614.2_Splice_Site|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Splice_Site	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACTCTGCTTACCACATCCAAC	0.527																																					.		.											.	NOP14-91	0			c.1635+1G>T						.						107	104	105					4																	2948138		2203	4300	6503	SO:0001630	splice_region_variant	8602	exon12			TGCTTACCACATC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1635+1G>T	4.37:g.2948138C>A		Somatic	64	1		WXS	Illumina GAIIx	Phase_I	99	57	NM_003703	0	0	0	7	7	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Splice_Site	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055280	0.36277	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3348	0.87277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOP14	2917936	1.000000	0.71417	0.989000	0.46669	0.044000	0.14063	7.119000	0.77145	2.204000	0.70986	0.491000	0.48974	.	.		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	Intron	A	2948138	C	A	2948138	5	1	62	1	0	0	0	0	0	0	1	0	10575	521	18	3	969	3	NOP14	4	2948138	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	190338	2948138	188206138	367	12735											
HTT	3064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3137678	3137678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacttacacagaggggCtcatcattatacaggggtaa	10	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3137678C>T	ENST00000355072.5	+	20	2826	c.2681C>T	c.(2680-2682)gCt>gTt	p.A894V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	894					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)		CACAGAGGGGCTCATCATTAT	0.383																																					p.A894V		.											.	HTT-281	0			c.C2681T						.						154	140	145					4																	3137678		1848	4100	5948	SO:0001583	missense	3064	exon20			GAGGGGCTCATCA	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.2681C>T	4.37:g.3137678C>T	ENSP00000347184:p.Ala894Val	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	152	45	NM_002111	0	0	5	9	4	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351262	0.24512	.	.	ENSG00000197386	ENST00000355072	T	0.05199	3.48	5.68	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.873077	0.10243	N	0.698106	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43114	-0.9411	10	0.29301	T	0.29	.	6.5516	0.22438	0.1554:0.6988:0.0:0.1458	.	894	P42858	HD_HUMAN	V	894	ENSP00000347184:A894V	ENSP00000347184:A894V	A	+	2	0	HTT	3107476	0.098000	0.21812	0.619000	0.29118	0.924000	0.55760	1.770000	0.38532	1.378000	0.46305	-0.182000	0.12963	GCT	.		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3137678	C	T	3137678	3	4	62	1	0	0	0	0	1	0	0	0	7484	797	28	3	2759	3	HTT	4	3137678	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	189540	3137678	188016598	368	12736											
HTT	3064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3240681	3240681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttctttgtcagcgcgtCcaccagcccgtgggtcgcgg	13	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3240681C>T	ENST00000355072.5	+	66	9336	c.9191C>T	c.(9190-9192)tCc>tTc	p.S3064F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3064					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)		GTCAGCGCGTCCACCAGCCCG	0.612																																					p.S3064F		.											.	HTT-281	0			c.C9191T						.						21	24	23					4																	3240681		2123	4214	6337	SO:0001583	missense	3064	exon66			GCGCGTCCACCAG	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.9191C>T	4.37:g.3240681C>T	ENSP00000347184:p.Ser3064Phe	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	129	60	NM_002111	0	0	38	72	34	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008778	0.75046	.	.	ENSG00000197386	ENST00000355072	T	0.22336	1.96	4.83	3.98	0.46160	.	0.120327	0.64402	D	0.000016	T	0.44912	0.1316	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.46386	-0.9195	10	0.87932	D	0	.	12.2946	0.54838	0.0:0.9169:0.0:0.0831	.	3064	P42858	HD_HUMAN	F	3064	ENSP00000347184:S3064F	ENSP00000347184:S3064F	S	+	2	0	HTT	3210479	1.000000	0.71417	0.926000	0.36857	0.424000	0.31475	7.776000	0.85560	1.149000	0.42402	0.557000	0.71058	TCC	.		0.612	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3240681	C	T	3240681	3	4	62	1	0	0	0	0	1	0	0	0	7484	855	30	3	9453	3	HTT	4	3240681	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	103003	3240681	187913595	369	12737											
DOK7	285489	hgsc.bcm.edu	37	chr4	3495047	3495047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgccgggtgtccctctgGctggctgggcacgagacggc	17	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3495047G>A	ENST00000340083.5	+	7	1399	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.G445D	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	445					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGTCCCTCTGGCTGGCTGGGC	0.741																																					p.G445D		.											.	DOK7-91	0			c.G1334A						.						6	8	7					4																	3495047		2118	4180	6298	SO:0001583	missense	285489	exon7			CCTCTGGCTGGCT	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1334G>A	4.37:g.3495047G>A	ENSP00000344432:p.Gly445Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	52	19	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955800	0.34471	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.65364	-0.15;-0.07	4.29	3.37	0.38596	.	0.801223	0.11405	N	0.567414	T	0.59676	0.2211	L	0.57536	1.79	0.26686	N	0.971459	P;P;B	0.41848	0.707;0.763;0.014	B;B;B	0.42422	0.341;0.387;0.011	T	0.49808	-0.8900	10	0.21540	T	0.41	-5.7693	11.9496	0.52948	0.0:0.0:0.826:0.174	.	445;307;445	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	D	445	ENSP00000374304:G445D;ENSP00000344432:G445D	ENSP00000344432:G445D	G	+	2	0	DOK7	3464845	0.450000	0.25697	0.865000	0.33974	0.345000	0.29048	1.962000	0.40442	1.965000	0.57142	0.555000	0.69702	GGC	.		0.741	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		A	3495047	G	A	3495047	3	1	62	1	0	0	0	0	1	0	0	0	4716	1203	42	3	1360	3	DOK7	4	3495047	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	254366	3495047	187659229	370	12738											
ADRA2C	152	bcgsc.ca	37	chr4	3768889	3768889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgtcatctccttcccgCcgctggtctcgctctaccgc	9	20	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3768889C>T	ENST00000330055.5	+	1	765	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	ADRA2C_ENST00000509482.1_Missense_Mutation_p.P186S	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	186					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCCTTCCCGCCGCTGGTCTC	0.672																																					p.P186S	Esophageal Squamous(12;454 628 4517 14479)	.											.	ADRA2C-522	0			c.C556T						.						18	20	19					4																	3768889		2196	4291	6487	SO:0001583	missense	152	exon1			TTCCCGCCGCTGG	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.556C>T	4.37:g.3768889C>T	ENSP00000386069:p.Pro186Ser	Somatic	55	2		WXS	Illumina GAIIx	Phase_I	139	55	NM_000683	0	0	2	9	7	P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132831	0.56828	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.39787	1.06;1.06	3.37	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66509	0.2796	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.971;0.98	T	0.71556	-0.4557	9	0.87932	D	0	.	11.6462	0.51263	0.0:0.819:0.181:0.0	.	186;186	D6RGL0;P18825	.;ADA2C_HUMAN	S	186	ENSP00000426268:P186S;ENSP00000386069:P186S	ENSP00000386069:P186S	P	+	1	0	ADRA2C	3738687	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	6.585000	0.74062	0.605000	0.29947	-0.264000	0.10439	CCG	.		0.672	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		T	3768889	C	T	3768889	3	4	62	1	0	0	0	0	1	0	0	0	339	739	26	3	558	3	ADRA2C	4	3768889	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	273842	3768889	187385387	371	12739											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228456	4228456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcgcacaccgccccGccggggggccggggattccg	18	17	0	0	rs73191872		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4	4	4					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		Somatic	6	0		WXS	Illumina GAIIx	Phase_I	100	29	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4228456	G	T	4228456	2	4	62	1	0	0	0	0	0	0	0	1	11344	1086	38	2		2	OTOP1	4	4228456	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	459567	4228456	186925820	372	12740											
OTOP1	133060	hgsc.bcm.edu	37	chr4	4228472	4228472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccggggggccggggaTtccggggacctcggggccga	20	15	0	0	rs76810534		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	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)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3	4	4					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	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.120A>G	4.37:g.4228472T>C		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	69	17	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4228472	T	C	4228472	2	2	62	1	0	0	0	0	0	0	0	1	11344	1490	52	4		4	OTOP1	4	4228472	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	16	4228472	186925804	373	12741											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044357	7044357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgggctcctcagccccAacctcggccggctcttcggg	14	17	2	0	rs871133	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1		0.9702	False		,,,				2504	1				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3	3	3		309	-4.5	0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	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.309T>C	4.37:g.7044357A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_153376	0	0	0	1	1	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		G	7044357	A	G	7044357	2	3	62	1	0	0	0	0	0	0	0	1	2881	117	5	4		4	CCDC96	4	7044357	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2815885	7044357	184109919	374	12742											
CCDC96	257236	hgsc.bcm.edu	37	chr4	7044380	7044380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggccggctcttcgggctCgggctggggctcggccggcc	18	16	1	0	rs871134	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:7044380C>T	ENST00000310085.4	-	1	348	c.286G>A	c.(286-288)Gag>Aag	p.E96K	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	96	Glu-rich.		E -> K (in dbSNP:rs871134). {ECO:0000269|PubMed:15489334}.							endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTTCGGGCTCGGGCTGGGGC	0.776													C|||	2561	0.511382	0.3623	0.4741	5008	,	,		11435	0.6429		0.5845	False		,,,				2504	0.5286				p.E96K		.											.	CCDC96-90	0			c.G286A						.	C	LYS/GLU	1411,1153		409,593,280	2	2	2		286	2.2	0	4	dbSNP_86	2	3789,2017		1333,1123,447	no	missense	CCDC96	NM_153376.2	56	1742,1716,727	TT,TC,CC		34.7399,44.9688,37.8734	benign	96/556	7044380	5200,3170	1282	2903	4185	SO:0001583	missense	257236	exon1			CGGGCTCGGGCTG	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.286G>A	4.37:g.7044380C>T	ENSP00000309285:p.Glu96Lys	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_153376	0	0	0	0	0	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	1153	0.5279304029304029	172	0.34959349593495936	193	0.5331491712707183	349	0.6101398601398601	439	0.579155672823219	C	10.33	1.319932	0.23994	0.550312	0.652601	ENSG00000173013	ENST00000310085	T	0.54479	0.57	3.13	2.24	0.28232	.	0.882045	0.09267	N	0.825735	T	0.00012	0.0000	L	0.32530	0.975	0.45284	P	0.0017160000000000508	B	0.21147	0.052	B	0.09377	0.004	T	0.45585	-0.9251	9	0.14252	T	0.57	-0.0803	4.8536	0.13549	0.0:0.6921:0.0:0.3079	rs871134	96	Q2M329	CCD96_HUMAN	K	96	ENSP00000309285:E96K	ENSP00000309285:E96K	E	-	1	0	CCDC96	7095281	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.781000	0.26774	0.602000	0.29896	0.471000	0.43371	GAG	C|0.472;T|0.528		0.776	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		T	7044380	C	T	7044380	3	4	62	1	0	0	0	0	1	0	0	0	2881	893	31	1	1385	1	CCDC96	4	7044380	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	23	7044380	184109896	375	12743											
GPR78	27201	hgsc.bcm.edu	37	chr4	8583357	8583357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgaaggcgctcgcgctGctcgccgacctgcaccccag	11	18	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:8583357G>A	ENST00000382487.4	+	1	1065	c.648G>A	c.(646-648)ctG>ctA	p.L216L	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	216				L -> V (in Ref. 1; AAL26479). {ECO:0000305}.	adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCTCGCGCTGCTCGCCGACC	0.692																																					p.L216L		.											.	GPR78-516	0			c.G648A						.						7	7	7					4																	8583357		2148	4206	6354	SO:0001819	synonymous_variant	27201	exon1			CGCGCTGCTCGCC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.648G>A	4.37:g.8583357G>A		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	41	12	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			.		0.692	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583357	G	A	8583357	2	1	62	1	0	0	0	0	0	0	0	1	6736	1306	46	3		3	GPR78	4	8583357	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1538977	8583357	182570919	376	12744											
HS3ST1	9957	broad.mit.edu	37	chr4	11401093	11401093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgagcctgccatcgcgCaccaggaactcctcgatgga	10	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:11401093C>T	ENST00000002596.5	-	2	1711	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	179					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						TGCCATCGCGCACCAGGAACT	0.592																																					p.V179V		.											.	HS3ST1-91	0			c.G537A						.						84	77	80					4																	11401093		2203	4300	6503	SO:0001819	synonymous_variant	9957	exon2			ATCGCGCACCAGG	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.537G>A	4.37:g.11401093C>T		Somatic	185	1		WXS	Illumina GAIIx	Phase_I	201	6	NM_005114	0	0	0	0	0	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																			.		0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		T	11401093	C	T	11401093	2	4	62	1	0	0	0	0	0	0	0	1	7390	697	25	3		3	HS3ST1	4	11401093	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2817736	11401093	179753183	377	12745											
LAP3	51056	hgsc.bcm.edu;bcgsc.ca	37	chr4	17585226	17585226	+	Frame_Shift_Del	DEL	A	A	-													tgaatacgatgacctaaagcAaaaaaagaagatggctgtgt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:17585226delA	ENST00000226299.4	+	5	774	c.500delA	c.(499-501)caafs	p.Q167fs	LAP3_ENST00000606142.1_Frame_Shift_Del_p.Q136fs	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	167					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						GACCTAAAGCAAAAAAAGAAG	0.547																																					p.Q167fs		.											.	LAP3-90	0			c.500delA						.						95	99	98					4																	17585226		2203	4300	6503	SO:0001589	frameshift_variant	51056	exon5			TAAAGCAAAAAAA	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.500delA	4.37:g.17585226delA	ENSP00000226299:p.Gln167fs	Somatic	154	2		WXS	Illumina GAIIx	Phase_I	217	101	NM_015907	0	0	0	0	0	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Frame_Shift_Del	DEL	ENST00000226299.4	37	CCDS3422.1																																																																																			.		0.547	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			-	17585226	A	-	17585226	7	5	62	1	0	1	0	1	0	0	0	0	8651	130	5	0	518	0	LAP3	4	17585226	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	6184133	17585226	173569050	378	12746											
KCNIP4	80333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20731736	20731736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaagagctgcatggagCgcattatgttttcatcctgt	9	8	2	1	rs149977507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:20731736C>T	ENST00000382152.2	-	9	889	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R179H|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R207H|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R216H|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R220H|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R179H	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	241	Interaction with KCND2. {ECO:0000250}.					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)				CTGCATGGAGCGCATTATGTT	0.398													C|||	1	0.000199681	0	0	5008	,	,		18825	0.001		0	False		,,,				2504	0				p.R221H		.											.	KCNIP4-91	0			c.G662A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	125	118	120		647,536,722,620,536,659	5.6	1	4	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	KCNIP4	NM_001035003.1,NM_001035004.1,NM_025221.5,NM_147181.3,NM_147182.3,NM_147183.3	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	216/226,179/189,241/251,207/217,179/189,220/230	20731736	1,13005	2203	4300	6503	SO:0001583	missense	80333	exon8			ATGGAGCGCATTA	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.722G>A	4.37:g.20731736C>T	ENSP00000371587:p.Arg241His	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	93	37	NM_025221	0	0	1	1	0	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	CCDS43216.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.947267	0.73672	2.27E-4	0.0	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.55	5.55	0.83447	EF-hand-like domain (1);	0.046201	0.85682	D	0.000000	T	0.70727	0.3257	M	0.82323	2.585	0.58432	D	0.999997	P;P;P;D	0.55172	0.907;0.793;0.793;0.97	B;B;B;B	0.39562	0.267;0.213;0.164;0.303	T	0.78259	-0.2273	10	0.59425	D	0.04	.	19.5129	0.95151	0.0:1.0:0.0:0.0	.	216;220;224;241	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	H	216;207;220;179;241;179;179	ENSP00000371583:R216H;ENSP00000399080:R207H;ENSP00000371585:R220H;ENSP00000371587:R241H;ENSP00000423257:R179H;ENSP00000351892:R179H	ENSP00000351892:R179H	R	-	2	0	KCNIP4	20340834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.980000	0.56895	2.608000	0.88229	0.585000	0.79938	CGC	C|1.000;T|0.000		0.398	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		T	20731736	C	T	20731736	3	4	62	1	0	0	0	0	1	0	0	0	8069	768	27	1	34	1	KCNIP4	4	20731736	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3146510	20731736	170422540	379	12747											
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	36214032	36214032	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataccttgatttgatgatAaaagagtttgttgcagtagc	9	5	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:36214032A>G	ENST00000303965.4	-	5	1608	c.1119T>C	c.(1117-1119)ttT>ttC	p.F373F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	373					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATTTGATGATAAAAGAGTTTG	0.313																																					p.F373F		.											.	ARAP2-93	0			c.T1119C						.						148	135	140					4																	36214032		2203	4300	6503	SO:0001819	synonymous_variant	116984	exon5			GATGATAAAAGAG	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.1119T>C	4.37:g.36214032A>G		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	48	18	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																			.		0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		G	36214032	A	G	36214032	2	3	62	1	0	0	0	0	0	0	0	1	839	359	13	4		4	ARAP2	4	36214032	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	15482296	36214032	154940244	380	12748											
TBC1D1	23216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	38119794	38119794	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacagttcccgctgggAttcgtagccagagtctttgg	12	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:38119794A>T	ENST00000261439.4	+	17	3298	c.2943A>T	c.(2941-2943)ggA>ggT	p.G981G	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	981	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCCGCTGGGATTCGTAGCCA	0.527																																					p.G981G		.											.	TBC1D1-91	0			c.A2943T						.						121	117	119					4																	38119794		2203	4300	6503	SO:0001819	synonymous_variant	23216	exon17			GCTGGGATTCGTA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2943A>T	4.37:g.38119794A>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	105	41	NM_015173	0	0	13	19	6	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532786	0.27387	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.7	-7.8	0.01214	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60737	-0.7204	4	.	.	.	-20.4992	12.1406	0.53996	0.2741:0.6108:0.1151:0.0	.	.	.	.	F	669	.	.	I	+	1	0	TBC1D1	37796189	0.044000	0.20184	0.841000	0.33234	0.976000	0.68499	-0.657000	0.05335	-1.363000	0.02164	-0.316000	0.08728	ATT	.		0.527	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	38119794	A	T	38119794	2	4	62	1	0	0	0	0	0	0	0	1	15644	320	12	5		5	TBC1D1	4	38119794	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1905762	38119794	153034482	381	12749											
LIAS	11019	hgsc.bcm.edu;bcgsc.ca	37	chr4	39466916	39466916	+	Frame_Shift_Del	DEL	G	G	-													tgtttctagatatgcctgatGggggagctgaacacattgca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:39466916delG	ENST00000261434.3	+	6	680	c.562delG	c.(562-564)gggfs	p.G189fs	LIAS_ENST00000381846.1_Frame_Shift_Del_p.G189fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Intron|LIAS_ENST00000340169.2_Frame_Shift_Del_p.G189fs	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TATGCCTGATGGGGGAGCTGA	0.398																																					p.G188fs		.											.	LIAS-90	0			c.562delG						.						172	165	167					4																	39466916		2203	4300	6503	SO:0001589	frameshift_variant	11019	exon6			CCTGATGGGGGAG	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	ENST00000261434.3:c.562delG	4.37:g.39466916delG	ENSP00000261434:p.Gly189fs	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	131	55	NM_194451	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000261434.3	37	CCDS3453.1																																																																																			.		0.398	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216815.1	NM_194451		-	39466916	G	-	39466916	7	5	62	1	0	1	0	1	0	0	0	0	8807	1348	47	0	584	0	LIAS	4	39466916	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	1347122	39466916	151687360	382	12750											
PDS5A	23244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	39868540	39868540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatcgctgataataaccgAagggttgaattggcagattt	10	6	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:39868540A>G	ENST00000303538.8	-	23	3122	c.2583T>C	c.(2581-2583)ctT>ctC	p.L861L		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAATAACCGAAGGGTTGAAT	0.383																																					p.L861L		.											.	.	0			c.T2583C						.						71	67	68					4																	39868540		1870	4116	5986	SO:0001819	synonymous_variant	23244	exon23			TAACCGAAGGGTT	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2583T>C	4.37:g.39868540A>G		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	89	32	NM_001100399	0	0	39	55	16		Silent	SNP	ENST00000303538.8	37	CCDS47045.1																																																																																			.		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39868540	A	G	39868540	2	3	62	1	0	0	0	0	0	0	0	1	11730	233	9	4		4	PDS5A	4	39868540	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	401624	39868540	151285736	383	12751											
CHRNA9	55584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	40339332	40339332	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatggcctagactccatcAggatccccagtgacctcgtg	10	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:40339332A>C	ENST00000310169.2	+	3	455	c.316A>C	c.(316-318)Agg>Cgg	p.R106R	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	106					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGACTCCATCAGGATCCCCAG	0.483																																					p.R106R	Esophageal Squamous(115;1297 1602 22235 25158 43327)	.											.	CHRNA9-96	0			c.A316C						.						88	73	78					4																	40339332		2203	4300	6503	SO:0001819	synonymous_variant	55584	exon3			TCCATCAGGATCC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.316A>C	4.37:g.40339332A>C		Somatic	154	1		WXS	Illumina GAIIx	Phase_I	156	62	NM_017581	0	0	0	0	0	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																			.		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			C	40339332	A	C	40339332	2	2	62	1	0	0	0	0	0	0	0	1	3396	179	7	5		5	CHRNA9	4	40339332	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	470792	40339332	150814944	384	12752											
CWH43	80157	hgsc.bcm.edu;bcgsc.ca	37	chr4	49009291	49009291	+	Frame_Shift_Del	DEL	A	A	-													cttgacttgcttcttcaaacAaaaaacagttctaaagtgct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:49009291delA	ENST00000226432.4	+	8	1317	c.1134delA	c.(1132-1134)acafs	p.T378fs	CWH43_ENST00000513409.1_Frame_Shift_Del_p.T351fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	378					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTCTTCAAACAAAAAACAGTT	0.269																																					p.T378fs		.											.	CWH43-93	0			c.1134delA						.						82	83	82					4																	49009291		2202	4299	6501	SO:0001589	frameshift_variant	80157	exon8			TCAAACAAAAAAC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1134delA	4.37:g.49009291delA	ENSP00000226432:p.Thr378fs	Somatic	99	2		WXS	Illumina GAIIx	Phase_I	90	32	NM_025087	0	0	0	0	0	B2RPD7	Frame_Shift_Del	DEL	ENST00000226432.4	37	CCDS3486.1																																																																																			.		0.269	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		-	49009291	A	-	49009291	7	5	62	1	0	1	0	1	0	0	0	0	4082	117	5	0	1164	0	CWH43	4	49009291	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	8669959	49009291	142144985	385	12753											
PDGFRA	5156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55153648	55153648	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcatctttgacaacctcTacaccacactgagtgatgtc	7	12	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:55153648T>G	ENST00000257290.5	+	19	2945	c.2614T>G	c.(2614-2616)Tac>Gac	p.Y872D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.Y632D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|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)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGACAACCTCTACACCACACT	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.Y872D	Pancreas(151;208 1913 7310 23853 37092)	.		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	.	PDGFRA-9497	0			c.T2614G						.						297	261	274					4																	55153648		2203	4300	6503	SO:0001583	missense	5156	exon19	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	AACCTCTACACCA	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2614T>G	4.37:g.55153648T>G	ENSP00000257290:p.Tyr872Asp	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	185	85	NM_006206	0	0	0	0	0	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777089	0.90195	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.91577	-2.87;-2.87	5.64	5.64	0.86602	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29676	U	0.011485	D	0.95014	0.8386	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95484	0.8563	10	0.87932	D	0	.	15.8619	0.79032	0.0:0.0:0.0:1.0	.	872	P16234	PGFRA_HUMAN	D	632;872	ENSP00000423325:Y632D;ENSP00000257290:Y872D	ENSP00000423325:Y632D	Y	+	1	0	FIP1L1;PDGFRA	54848405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.967000	0.87967	2.160000	0.67779	0.482000	0.46254	TAC	.		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55153648	T	G	55153648	3	3	62	1	0	0	0	0	1	0	0	0	11700	1522	53	5	2684	5	PDGFRA	4	55153648	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	6144357	55153648	136000628	386	12754											
SRP72	6731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	57357651	57357651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctaaaagtagatgttgaGgctcttgaaaattctgctgg	10	6	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:57357651G>T	ENST00000342756.5	+	16	2278	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	SRP72_ENST00000510663.1_Missense_Mutation_p.E458D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	519					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TAGATGTTGAGGCTCTTGAAA	0.378																																					p.E519D		.											.	SRP72-116	0			c.G1557T						.						150	153	152					4																	57357651		2203	4300	6503	SO:0001583	missense	6731	exon16			TGTTGAGGCTCTT	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1557G>T	4.37:g.57357651G>T	ENSP00000342181:p.Glu519Asp	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	159	60	NM_006947	0	0	35	75	40	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	3.501	-0.101775	0.06967	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.73363	-0.74;-0.69	5.28	2.52	0.30459	.	0.044787	0.85682	D	0.000000	T	0.36690	0.0976	N	0.01424	-0.875	0.33639	D	0.607021	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.42999	-0.9418	10	0.02654	T	1	.	4.9119	0.13825	0.1672:0.0:0.5355:0.2973	.	458;519;519	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	D	519;464;458;280	ENSP00000342181:E519D;ENSP00000424576:E458D	ENSP00000342181:E519D	E	+	3	2	SRP72	57052408	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.837000	0.27558	0.674000	0.31244	-0.150000	0.13652	GAG	.		0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			T	57357651	G	T	57357651	3	4	62	1	0	0	0	0	1	0	0	0	15204	991	35	3	1619	3	SRP72	4	57357651	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2204003	57357651	133796625	387	12755											
IGFBP7	3490	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	57907052	57907052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctcaagtacacctgggCaccagtgacattccagatgt	9	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:57907052C>T	ENST00000295666.4	-	2	556	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.A175T	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	175	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	TACACCTGGGCACCAGTGACA	0.517																																					p.A175T		.											.	IGFBP7-522	0			c.G523A						.						95	80	85					4																	57907052		2203	4300	6503	SO:0001583	missense	3490	exon2			CCTGGGCACCAGT	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.523G>A	4.37:g.57907052C>T	ENSP00000295666:p.Ala175Thr	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	147	63	NM_001553	0	1	1722	1724	1	B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409650	0.83340	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.41065	1.01;1.01	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238545	0.36482	N	0.002567	T	0.38532	0.1044	N	0.13235	0.315	0.49687	D	0.999814	D;D	0.57571	0.98;0.98	P;P	0.51516	0.672;0.672	T	0.10660	-1.0620	10	0.25751	T	0.34	-12.4681	18.1945	0.89817	0.0:1.0:0.0:0.0	.	175;175	B4E1N2;Q16270	.;IBP7_HUMAN	T	175	ENSP00000295666:A175T;ENSP00000444146:A175T	ENSP00000295666:A175T	A	-	1	0	IGFBP7	57601809	1.000000	0.71417	0.967000	0.41034	0.868000	0.49771	4.396000	0.59684	2.724000	0.93272	0.563000	0.77884	GCC	.		0.517	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			T	57907052	C	T	57907052	3	4	62	1	0	0	0	0	1	0	0	0	7611	710	25	3	341	3	IGFBP7	4	57907052	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	549401	57907052	133247224	388	12756											
CENPC1	1060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	68380317	68380317	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaaaactttgatccgactCatcaattataaattcatcct	4	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:68380317C>A	ENST00000273853.6	-	8	1169	c.919G>T	c.(919-921)Gag>Tag	p.E307*		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	307					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)										TGATCCGACTCATCAATTATA	0.463																																					p.E307X		.											.	CENPC1-205	0			c.G919T						.						70	63	65					4																	68380317		1925	4124	6049	SO:0001587	stop_gained	1060	exon8			CCGACTCATCAAT	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.919G>T	4.37:g.68380317C>A	ENSP00000273853:p.Glu307*	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	70	25	NM_001812	0	0	5	7	2	Q8IW27|Q9P0M5	Nonsense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488491	0.96323	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.62	2.86	0.33363	.	0.325295	0.26143	N	0.026088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.066	6.4897	0.22109	0.0:0.7169:0.1829:0.1002	.	.	.	.	X	307	.	ENSP00000273853:E307X	E	-	1	0	CENPC1	68062912	0.782000	0.28689	0.986000	0.45419	0.523000	0.34469	0.091000	0.15046	0.642000	0.30620	0.591000	0.81541	GAG	.		0.463	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			A	68380317	C	A	68380317	4	1	62	1	0	0	0	0	0	1	0	0	3236	835	29	3	1960	3	CENPC1	4	68380317	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	10473265	68380317	122773959	389	12757											
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	68530972	68530972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtaaatatggttccagttCtgtggtgtcaccaatactaa	8	7	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:68530972C>T	ENST00000322244.5	-	10	891	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	UBA6_ENST00000420827.2_Missense_Mutation_p.E278K	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	278					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGTTCCAGTTCTGTGGTGTCA	0.294																																					p.E278K		.											.	UBA6-90	0			c.G832A						.						79	86	83					4																	68530972		2202	4297	6499	SO:0001583	missense	55236	exon10			CCAGTTCTGTGGT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.832G>A	4.37:g.68530972C>T	ENSP00000313454:p.Glu278Lys	Somatic	163	0		WXS	Illumina GAIIx	Phase_I	173	66	NM_018227	0	0	11	25	14	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699935	0.30142	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.29655	1.56;1.56	5.53	0.59	0.17458	Molybdenum cofactor biosynthesis, MoeB (1);	0.552015	0.21166	N	0.079076	T	0.12987	0.0315	N	0.16862	0.45	0.26049	N	0.98151	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.35375	-0.9791	10	0.05721	T	0.95	-26.121	6.931	0.24442	0.0:0.452:0.3489:0.199	.	278;278;278	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	K	278	ENSP00000313454:E278K;ENSP00000399234:E278K	ENSP00000313454:E278K	E	-	1	0	UBA6	68213567	0.044000	0.20184	0.956000	0.39512	0.993000	0.82548	-0.008000	0.12788	-0.133000	0.11537	0.585000	0.79938	GAA	.		0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68530972	C	T	68530972	3	4	62	1	0	0	0	0	1	0	0	0	16881	922	32	3	2422	3	UBA6	4	68530972	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	150655	68530972	122623304	390	12758											
TMPRSS11E	28983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	69343139	69343139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagtaacaataaaacctTcgaaaatgaaacggggtctc	9	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:69343139T>C	ENST00000305363.4	+	8	824	c.760T>C	c.(760-762)Tcg>Ccg	p.S254P		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATAAAACCTTCGAAAATGAA	0.388																																					p.S254P		.											.	TMPRSS11E-70	0			c.T760C						.						146	159	154					4																	69343139		2203	4296	6499	SO:0001583	missense	28983	exon8			AAACCTTCGAAAA	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.760T>C	4.37:g.69343139T>C	ENSP00000307519:p.Ser254Pro	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	204	96	NM_014058	0	0	0	0	0	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.599453	0.00125	.	.	ENSG00000087128	ENST00000305363	D	0.89343	-2.5	5.38	-2.25	0.06888	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.738620	0.03786	N	0.262067	T	0.70842	0.3270	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66724	-0.5851	10	0.02654	T	1	.	5.5434	0.17051	0.0:0.3731:0.2412:0.3857	.	254	Q9UL52	TM11E_HUMAN	P	254	ENSP00000307519:S254P	ENSP00000307519:S254P	S	+	1	0	TMPRSS11E	69025734	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.020000	0.12525	-0.528000	0.06366	-1.227000	0.01581	TCG	.		0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		C	69343139	T	C	69343139	3	2	62	1	0	0	0	0	1	0	0	0	16289	1783	62	4	790	4	TMPRSS11E	4	69343139	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	812167	69343139	121811137	391	12759											
UGT2B10	7365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgtggtgagctgctggCtgagctatttaacataccct	10	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393																																					.	Melanoma(133;755 1763 25578 26334 46021)	.											.	UGT2B10-65	0			.						.						139	135	137					4																	69682216		2202	4297	6499	SO:0001583	missense	7365	.			TGCTGGCTGAGCT	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	4.37:g.69682216C>T	ENSP00000265403:p.Ala160Val	Somatic	305	2		WXS	Illumina GAIIx	Phase_I	409	181	.	0	0	0	0	0	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT	.		0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		T	69682216	C	T	69682216	3	4	62	1	0	0	0	0	1	0	0	0	17005	797	28	3	481	3	UGT2B10	4	69682216	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	339077	69682216	121472060	392	12760											
ODAM	54959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	71068483	71068483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtagtcaacaggagAagagataccatatttacaaa	7	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:71068483A>G	ENST00000396094.2	+	9	707	c.659A>G	c.(658-660)gAa>gGa	p.E220G		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	220					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCAACAGGAGAAGAGATACCA	0.388																																					p.E220G		.											.	ODAM-134	0			c.A659G						.						61	57	58					4																	71068483		2202	4298	6500	SO:0001583	missense	54959	exon9			CAGGAGAAGAGAT	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.659A>G	4.37:g.71068483A>G	ENSP00000379401:p.Glu220Gly	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	185	76	NM_017855	0	0	0	0	0	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.763002	0.00651	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.46063	0.88;0.88	4.7	-3.19	0.05171	.	1.059290	0.07372	N	0.885978	T	0.24084	0.0583	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25293	-1.0136	10	0.25106	T	0.35	1.3334	10.8988	0.47038	0.6705:0.0:0.3295:0.0	.	220	A1E959	ODAM_HUMAN	G	220;206;157	ENSP00000379401:E220G;ENSP00000426106:E157G	ENSP00000379401:E220G	E	+	2	0	ODAM	71103072	0.035000	0.19736	0.107000	0.21349	0.003000	0.03518	-0.287000	0.08388	-0.611000	0.05709	-0.242000	0.12053	GAA	.		0.388	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		G	71068483	A	G	71068483	3	3	62	1	0	0	0	0	1	0	0	0	10863	246	9	4	693	4	ODAM	4	71068483	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1386267	71068483	120085793	393	12761											
C4orf35	85438	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	71201374	71201374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgatgaggctgtccaGgtcactgattccactattcc	9	13	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:71201374G>T	ENST00000273936.5	+	1	692	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	206					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCTGTCCAGGTCACTGATT	0.443																																					p.Q206H		.											.	CABS1-93	0			c.G618T						.						67	72	70					4																	71201374		2203	4299	6502	SO:0001583	missense	85438	exon1			TGTCCAGGTCACT	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.618G>T	4.37:g.71201374G>T	ENSP00000273936:p.Gln206His	Somatic	156	1		WXS	Illumina GAIIx	Phase_I	186	89	NM_033122	0	0	0	0	0	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978970	0.18812	.	.	ENSG00000145309	ENST00000273936	T	0.26810	1.71	4.35	-2.81	0.05805	.	0.875616	0.09507	N	0.792873	T	0.12689	0.0308	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.30208	-0.9986	10	0.45353	T	0.12	-44.9863	1.2043	0.01891	0.1845:0.1343:0.2358:0.4455	.	206	Q96KC9	CABS1_HUMAN	H	206	ENSP00000273936:Q206H	ENSP00000273936:Q206H	Q	+	3	2	CABS1	71235963	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.048000	0.03517	-0.381000	0.07882	0.655000	0.94253	CAG	.		0.443	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		T	71201374	G	T	71201374	3	4	62	1	0	0	0	0	1	0	0	0	2272	991	35	3	620	3	C4orf35	4	71201374	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	132891	71201374	119952902	394	12762											
ADAMTS3	9508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	73148985	73148985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagcagcagccatttgTgaagctgaactgaggtggac	14	7	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:73148985T>C	ENST00000286657.4	-	22	3522	c.3486A>G	c.(3484-3486)tcA>tcG	p.S1162S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1162					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCCATTTGTGAAGCTGAAC	0.502																																					p.S1162S	NSCLC(168;1941 2048 2918 13048 43078)	.											.	ADAMTS3-651	0			c.A3486G						.						189	168	175					4																	73148985		2203	4300	6503	SO:0001819	synonymous_variant	9508	exon22			CATTTGTGAAGCT	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3486A>G	4.37:g.73148985T>C		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	136	51	NM_014243	0	0	0	0	0	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																			.		0.502	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			C	73148985	T	C	73148985	2	2	62	1	0	0	0	0	0	0	0	1	267	1683	59	4		4	ADAMTS3	4	73148985	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1947611	73148985	118005291	395	12763											
AFP	174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	74303978	74303978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgcattgactgcaattgaGaaacccactggagatgaaca	10	8	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:74303978G>A	ENST00000395792.2	+	3	325	c.225G>A	c.(223-225)gaG>gaA	p.E75E	AFP_ENST00000226359.2_Silent_p.E75E	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	75	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAATTGAGAAACCCACTg	0.358									Alpha-Fetoprotein, Hereditary Persistence of																												p.E75E		.											.	AFP-91	0			c.G225A						.						100	97	98					4																	74303978		2203	4300	6503	SO:0001819	synonymous_variant	174	exon3	Familial Cancer Database	HPAFP	AATTGAGAAACCC	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.225G>A	4.37:g.74303978G>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	74	25	NM_001134	0	0	0	0	0	B2RBU3	Silent	SNP	ENST00000395792.2	37	CCDS3556.1																																																																																			.		0.358	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			A	74303978	G	A	74303978	2	1	62	1	0	0	0	0	0	0	0	1	363	933	33	3		3	AFP	4	74303978	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1154993	74303978	116850298	396	12764											
MTHFD2L	441024	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	75041061	75041061	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaacttttggacgtaaCtgatcaattgaatatggacc	10	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:75041061C>G	ENST00000395759.2	+	3	419	c.392C>G	c.(391-393)aCt>aGt	p.T131S	MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.T73S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.T73S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	131					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTGGACGTAACTGATCAATTG	0.363																																					p.T131S		.											.	MTHFD2L-91	0			c.C392G						.						141	138	139					4																	75041061		2203	4300	6503	SO:0001583	missense	441024	exon3			ACGTAACTGATCA	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.392C>G	4.37:g.75041061C>G	ENSP00000379108:p.Thr131Ser	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	160	72	NM_001144978	0	0	0	3	3	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270324	0.40194	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29397	1.97;1.57;1.57;1.98	5.36	3.65	0.41850	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.284421	0.39615	N	0.001303	T	0.19765	0.0475	N	0.22421	0.69	0.29169	N	0.877259	B;B	0.24258	0.1;0.012	B;B	0.25405	0.06;0.015	T	0.14172	-1.0482	10	0.87932	D	0	-14.6247	7.1063	0.25366	0.0:0.7353:0.0:0.2647	.	131;73	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	131;73;73;73	ENSP00000379108:T131S;ENSP00000330982:T73S;ENSP00000352012:T73S;ENSP00000321984:T73S	ENSP00000321984:T73S	T	+	2	0	MTHFD2L	75259925	0.886000	0.30341	0.994000	0.49952	0.883000	0.51084	1.215000	0.32431	0.851000	0.35264	-0.152000	0.13540	ACT	.		0.363	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		G	75041061	C	G	75041061	3	3	62	1	0	0	0	0	1	0	0	0	9968	565	20	3	402	3	MTHFD2L	4	75041061	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	737083	75041061	116113215	397	12765											
SHROOM3	57619	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	77692038	77692038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccttggtgaagatgccaGtaatgaagaaagggtaggtg	16	5	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:77692038G>A	ENST00000296043.6	+	10	6562	c.5609G>A	c.(5608-5610)aGt>aAt	p.S1870N	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1870	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)			GAAGATGCCAGTAATGAAGAA	0.522																																					p.S1870N		.											.	SHROOM3-93	0			c.G5609A						.						105	103	104					4																	77692038		2203	4300	6503	SO:0001583	missense	57619	exon10			ATGCCAGTAATGA	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.5609G>A	4.37:g.77692038G>A	ENSP00000296043:p.Ser1870Asn	Somatic	195	2		WXS	Illumina GAIIx	Phase_I	276	112	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535950	0.13188	.	.	ENSG00000138771	ENST00000296043	T	0.30448	1.53	5.53	2.56	0.30785	Apx/shroom, ASD2 (2);	0.339504	0.31156	N	0.008146	T	0.14485	0.0350	N	0.20483	0.58	0.26475	N	0.975201	B	0.25772	0.134	B	0.23574	0.047	T	0.17684	-1.0361	10	0.15066	T	0.55	-14.3164	4.2355	0.10623	0.1793:0.4777:0.3429:0.0	.	1870	Q8TF72	SHRM3_HUMAN	N	1870	ENSP00000296043:S1870N	ENSP00000296043:S1870N	S	+	2	0	SHROOM3	77911062	0.508000	0.26154	0.887000	0.34795	0.041000	0.13682	2.013000	0.40942	0.831000	0.34780	0.650000	0.86243	AGT	.		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77692038	G	A	77692038	3	1	62	1	0	0	0	0	1	0	0	0	14340	1029	36	3	5647	3	SHROOM3	4	77692038	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2650977	77692038	113462238	398	12766											
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	79258865	79258865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtcatgggccgttGgagtctgactgcatctcctg	14	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:79258865G>C	ENST00000325942.6	+	20	2756	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	FRAS1_ENST00000264895.6_Missense_Mutation_p.L772F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	772					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						ATGGGCCGTTGGAGTCTGACT	0.522																																					p.L772F		.											.	FRAS1-68	0			c.G2316C						.						190	198	195					4																	79258865		2079	4207	6286	SO:0001583	missense	80144	exon20			GCCGTTGGAGTCT	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.2316G>C	4.37:g.79258865G>C	ENSP00000326330:p.Leu772Phe	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	334	136	NM_001166133	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.045|8.045	0.764648|0.764648	0.15914|0.15914	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895	.|T;T	.|0.30182	.|1.54;2.58	5.55|5.55	0.363|0.363	0.16118|0.16118	.|Growth factor, receptor (1);	.|0.373655	.|0.27253	.|N	.|0.020219	T|T	0.26268|0.26268	0.0641|0.0641	M|M	0.67700|0.67700	2.07|2.07	0.28590|0.28590	N|N	0.909717|0.909717	.|P;P;P	.|0.44429	.|0.604;0.835;0.604	.|B;B;B	.|0.43386	.|0.418;0.308;0.304	T|T	0.18461|0.18461	-1.0336|-1.0336	5|10	.|0.49607	.|T	.|0.09	.|.	0.3272|0.3272	0.00312|0.00312	0.3053:0.1343:0.2877:0.2726|0.3053:0.1343:0.2877:0.2726	.|.	.|772;772;772	.|E9PHH6;Q86XX4;A2RRR8	.|.;FRAS1_HUMAN;.	R|F	615|772	.|ENSP00000326330:L772F;ENSP00000264895:L772F	.|ENSP00000264895:L772F	G|L	+|+	1|3	0|2	FRAS1|FRAS1	79477889|79477889	0.002000|0.002000	0.14202|0.14202	0.029000|0.029000	0.17559|0.17559	0.013000|0.013000	0.08279|0.08279	-0.381000|-0.381000	0.07417|0.07417	0.236000|0.236000	0.21180|0.21180	0.655000|0.655000	0.94253|0.94253	GGA|TTG	.		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			C	79258865	G	C	79258865	3	2	62	1	0	0	0	0	1	0	0	0	6066	1339	47	3	2394	3	FRAS1	4	79258865	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1566827	79258865	111895411	399	12767											
BMP2K	55589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	79832494	79832494	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcccaaaagtgtagatgtAtttggctccactccatttca	6	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:79832494A>T	ENST00000335016.5	+	16	2959	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	931					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						GTGTAGATGTATTTGGCTCCA	0.458																																					p.V931V		.											.	BMP2K-383	0			c.A2793T						.						59	53	55					4																	79832494		1946	4131	6077	SO:0001819	synonymous_variant	55589	exon16			AGATGTATTTGGC	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.2793A>T	4.37:g.79832494A>T		Somatic	536	1		WXS	Illumina GAIIx	Phase_I	565	211	NM_198892	0	0	10	20	10	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	A	5.134	0.210409	0.09757	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.3	-3.37	0.04898	.	.	.	.	.	T	0.38268	0.1034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-0.103	1.4061	0.02281	0.3012:0.2899:0.2641:0.1448	.	.	.	.	F	624	.	.	I	+	1	0	BMP2K	80051518	0.001000	0.12720	0.915000	0.36163	0.865000	0.49528	-1.779000	0.01777	-0.566000	0.06054	-0.425000	0.05940	ATT	.		0.458	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		T	79832494	A	T	79832494	2	4	62	1	0	0	0	0	0	0	0	1	1462	436	16	5		5	BMP2K	4	79832494	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	573629	79832494	111321782	400	12768											
SEC31A	22872	bcgsc.ca	37	chr4	83795857	83795857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggactggctgatgctaaaatAtgctgaacttgtctgttcca	10	8	1	2	rs539581495		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:83795857A>T	ENST00000395310.2	-	6	728	c.546T>A	c.(544-546)caT>caA	p.H182Q	SEC31A_ENST00000443462.2_Missense_Mutation_p.H177Q|SEC31A_ENST00000432794.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000500777.2_Missense_Mutation_p.H182Q|SEC31A_ENST00000513858.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000326950.5_Missense_Mutation_p.H182Q|SEC31A_ENST00000508479.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000509142.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H182Q|SEC31A_ENST00000505984.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000311785.7_Missense_Mutation_p.H182Q|SEC31A_ENST00000355196.2_Missense_Mutation_p.H182Q|SEC31A_ENST00000264405.5_5'Flank	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	182	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATGCTAAAATATGCTGAACTT	0.403																																					p.H182Q		.											.	SEC31A-268	0			c.T546A						.						115	119	118					4																	83795857		2203	4300	6503	SO:0001583	missense	22872	exon6			TAAAATATGCTGA	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.546T>A	4.37:g.83795857A>T	ENSP00000378721:p.His182Gln	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	40	10	NM_001077206	0	0	12	42	30	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378412	0.82682	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.64;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;3.45	5.05	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097739	0.64402	D	0.000001	T	0.64800	0.2631	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.993;0.999;0.999;0.957;1.0;1.0;0.985	D;D;P;D;D;D;D;D;P	0.85130	0.986;0.987;0.801;0.972;0.991;0.914;0.996;0.997;0.864	T	0.67795	-0.5578	10	0.72032	D	0.01	-12.5406	7.0032	0.24821	0.7423:0.0:0.2577:0.0	.	177;182;182;182;182;182;182;182;182	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	Q	182;182;182;177;182;182;182;182;182;182;182;182;182;182;182;153	ENSP00000337602:H182Q;ENSP00000426886:H182Q;ENSP00000378721:H182Q;ENSP00000408027:H177Q;ENSP00000426569:H182Q;ENSP00000407944:H182Q;ENSP00000400926:H182Q;ENSP00000325087:H182Q;ENSP00000309070:H182Q;ENSP00000421633:H182Q;ENSP00000421464:H182Q;ENSP00000424635:H182Q;ENSP00000347329:H182Q;ENSP00000424451:H182Q;ENSP00000425999:H182Q;ENSP00000425056:H153Q	ENSP00000309070:H182Q	H	-	3	2	SEC31A	84014881	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.671000	0.54576	0.964000	0.38108	0.533000	0.62120	CAT	.		0.403	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83795857	A	T	83795857	3	4	62	1	0	0	0	0	1	0	0	0	14043	446	16	5	3204	5	SEC31A	4	83795857	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3963363	83795857	107358419	401	12769											
HELQ	113510	bcgsc.ca	37	chr4	84362474	84362474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttataattaagaagaCgtgaaaaagtcatgccattc	6	7	1	3	rs142206532	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:84362474C>T	ENST00000295488.3	-	7	1808	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	HELQ_ENST00000510985.1_Missense_Mutation_p.R482H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	549					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						ATTAAGAAGACGTGAAAAAGT	0.328								Other identified genes with known or suspected DNA repair function					C|||	29	0.00579073	0.0204	0.0029	5008	,	,		20325	0		0	False		,,,				2504	0				p.R549H		.											.	HELQ-155	0			c.G1646A						.	C	HIS/ARG	75,4329	65.3+/-102.7	1,73,2128	68	66	66		1646	5.6	1	4	dbSNP_134	66	4,8594	3.0+/-9.4	0,4,4295	yes	missense	HELQ	NM_133636.2	29	1,77,6423	TT,TC,CC		0.0465,1.703,0.6076	probably-damaging	549/1102	84362474	79,12923	2202	4299	6501	SO:0001583	missense	113510	exon7			AGAAGACGTGAAA	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.1646G>A	4.37:g.84362474C>T	ENSP00000295488:p.Arg549His	Somatic	175	4		WXS	Illumina GAIIx	Phase_I	201	79	NM_133636	0	0	3	9	6	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	17.16	3.318774	0.60524	0.01703	4.65E-4	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.71103	-0.54;-0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.88979	2.995	0.80722	D	1	B;D	0.89917	0.071;1.0	B;D	0.78314	0.014;0.991	D	0.85115	0.0965	10	0.62326	D	0.03	-17.841	19.961	0.97250	0.0:1.0:0.0:0.0	.	482;549	E3W980;Q8TDG4	.;HELQ_HUMAN	H	549;482	ENSP00000295488:R549H;ENSP00000424539:R482H	ENSP00000295488:R549H	R	-	2	0	HELQ	84581498	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	3.485000	0.53208	2.783000	0.95769	0.655000	0.94253	CGT	C|0.994;T|0.006		0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		T	84362474	C	T	84362474	3	4	62	1	0	0	0	0	1	0	0	0	7074	536	19	1	1707	1	HELQ	4	84362474	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	566617	84362474	106791802	402	12770											
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87643506	87643506	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctatatccaggagacacaatCaaagcgtccatgcttgacat	7	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:87643506C>T	ENST00000411767.2	+	10	1590	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	PTPN13_ENST00000427191.2_Silent_p.I509I|PTPN13_ENST00000436978.1_Silent_p.I509I|PTPN13_ENST00000316707.6_Silent_p.I509I|PTPN13_ENST00000511467.1_Silent_p.I509I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	509					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGACACAATCAAAGCGTCCA	0.453																																					p.I509I		.											.	PTPN13-230	0			c.C1527T						.						151	141	144					4																	87643506		1933	4142	6075	SO:0001819	synonymous_variant	5783	exon10			CACAATCAAAGCG		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.1527C>T	4.37:g.87643506C>T		Somatic	368	0		WXS	Illumina GAIIx	Phase_I	494	214	NM_006264	0	0	1	5	4	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			.		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			T	87643506	C	T	87643506	2	4	62	1	0	0	0	0	0	0	0	1	12825	816	29	3		3	PTPN13	4	87643506	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3281032	87643506	103510770	403	12771											
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87643549	87643549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggatccgttaagagaaAttgccctagaaacagccatg	10	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:87643549A>G	ENST00000411767.2	+	10	1633	c.1570A>G	c.(1570-1572)Att>Gtt	p.I524V	PTPN13_ENST00000427191.2_Missense_Mutation_p.I524V|PTPN13_ENST00000436978.1_Missense_Mutation_p.I524V|PTPN13_ENST00000316707.6_Missense_Mutation_p.I524V|PTPN13_ENST00000511467.1_Missense_Mutation_p.I524V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	524					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTAAGAGAAATTGCCCTAGA	0.458																																					p.I524V		.											.	PTPN13-230	0			c.A1570G						.						130	123	125					4																	87643549		1901	4130	6031	SO:0001583	missense	5783	exon10			AGAGAAATTGCCC		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.1570A>G	4.37:g.87643549A>G	ENSP00000407249:p.Ile524Val	Somatic	339	0		WXS	Illumina GAIIx	Phase_I	446	172	NM_006264	0	0	2	3	1	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764456	0.31228	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.92	4.92	0.64577	.	0.629942	0.14653	N	0.306491	T	0.30070	0.0753	L	0.43152	1.355	0.31126	N	0.708245	B;B;B;B	0.21071	0.001;0.051;0.01;0.023	B;B;B;B	0.26416	0.005;0.069;0.013;0.069	T	0.20273	-1.0280	10	0.28530	T	0.3	.	14.8547	0.70326	1.0:0.0:0.0:0.0	.	524;524;524;524	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	524;524;524;524;524;492	ENSP00000408368:I524V;ENSP00000394794:I524V;ENSP00000322675:I524V;ENSP00000407249:I524V;ENSP00000426626:I524V	ENSP00000322675:I524V	I	+	1	0	PTPN13	87862573	1.000000	0.71417	0.996000	0.52242	0.746000	0.42486	5.022000	0.64078	1.979000	0.57680	0.533000	0.62120	ATT	.		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			G	87643549	A	G	87643549	3	3	62	1	0	0	0	0	1	0	0	0	12825	101	4	4	1604	4	PTPN13	4	87643549	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	43	87643549	103510727	404	12772											
DSPP	1834	broad.mit.edu;ucsc.edu	37	chr4	88537441	88537441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagtagtgatagcagtgaCagcagtgacagcagcgacag	14	7	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:88537441C>T	ENST00000282478.7	+	4	3660	c.3627C>T	c.(3625-3627)gaC>gaT	p.D1209D	DSPP_ENST00000399271.1_Silent_p.D1209D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1209	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)		atagcagtgacagcagtgaca	0.552																																					p.D1209D		.											.	DSPP-90	0			c.C3627T						.						45	65	58					4																	88537441		1601	2919	4520	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3627C>T	4.37:g.88537441C>T		Somatic	687	2		WXS	Illumina GAIIx	Phase_I	920	130	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.552	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88537441	C	T	88537441	2	4	62	1	0	0	0	0	0	0	0	1	4796	477	17	3		3	DSPP	4	88537441	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	893892	88537441	102616835	405	12773											
FAM13A	10144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	89679992	89679992	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcctggtcaccggcatcttGatttctctgctgtttggtgt	10	11	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:89679992G>A	ENST00000264344.5	-	14	1846	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*	FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q193*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q221*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q221*|FAM13A_ENST00000511976.1_Nonsense_Mutation_p.Q133*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q207*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	547					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCGGCATCTTGATTTCTCTGC	0.507																																					p.Q547X		.											.	FAM13A-70	0			c.C1639T						.						120	111	114					4																	89679992		2203	4300	6503	SO:0001587	stop_gained	10144	exon14			CATCTTGATTTCT	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1639C>T	4.37:g.89679992G>A	ENSP00000264344:p.Gln547*	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	146	58	NM_014883	0	0	4	4	0	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670177	0.96754	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	.	.	.	5.37	4.51	0.55191	.	0.472673	0.24856	N	0.035043	.	.	.	.	.	.	0.34509	D	0.706891	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.0893	0.81082	0.0:0.134:0.866:0.0	.	.	.	.	X	221;547;207;133;221;193	.	ENSP00000264344:Q547X	Q	-	1	0	FAM13A	89899015	1.000000	0.71417	0.016000	0.15963	0.933000	0.57130	3.933000	0.56545	1.456000	0.47831	0.650000	0.86243	CAA	.		0.507	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89679992	G	A	89679992	4	1	62	1	0	0	0	0	0	1	0	0	5471	1299	45	3	1476	3	FAM13A	4	89679992	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1142551	89679992	101474284	406	12774											
GRID2	2895	ucsc.edu;bcgsc.ca	37	chr4	94436526	94436526	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccgaagcaatggatcggaGaacaatgttctggagtccca	11	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:94436526G>A	ENST00000282020.4	+	13	2415	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	GRID2_ENST00000510992.1_Silent_p.E624E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	719					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATGGATCGGAGAACAATGTTC	0.473																																					p.E719E		.											.	GRID2-159	0			c.G2157A						.						129	110	116					4																	94436526		2203	4300	6503	SO:0001819	synonymous_variant	2895	exon13			ATCGGAGAACAAT	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2157G>A	4.37:g.94436526G>A		Somatic	177	3		WXS	Illumina GAIIx	Phase_I	192	73	NM_001510	0	0	0	0	0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																			.		0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94436526	G	A	94436526	2	1	62	1	0	0	0	0	0	0	0	1	6799	933	33	3		3	GRID2	4	94436526	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4756534	94436526	96717750	407	12775											
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	94547465	94547465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgggatgcagctgtattgGaatatgtggctatcaatgac	12	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:94547465G>A	ENST00000282020.4	+	14	2497	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	GRID2_ENST00000510992.1_Missense_Mutation_p.E652K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	747					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGCTGTATTGGAATATGTGGC	0.353																																					p.E747K		.											.	GRID2-159	0			c.G2239A						.						182	163	170					4																	94547465		2203	4300	6503	SO:0001583	missense	2895	exon14			GTATTGGAATATG	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2239G>A	4.37:g.94547465G>A	ENSP00000282020:p.Glu747Lys	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	119	50	NM_001510	0	0	0	0	0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216721	0.95104	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.25912	1.77;1.77	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.66439	2.03	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.65233	0.933;0.933	T	0.52132	-0.8616	10	0.87932	D	0	.	18.9243	0.92538	0.0:0.0:1.0:0.0	.	652;747	E9PH24;O43424	.;GRID2_HUMAN	K	747;652	ENSP00000282020:E747K;ENSP00000421257:E652K	ENSP00000282020:E747K	E	+	1	0	GRID2	94766488	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.195000	0.94971	2.542000	0.85734	0.484000	0.47621	GAA	.		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94547465	G	A	94547465	3	1	62	1	0	0	0	0	1	0	0	0	6799	1175	41	3	2293	3	GRID2	4	94547465	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	110939	94547465	96606811	408	12776											
PDLIM5	10611	ucsc.edu;bcgsc.ca	37	chr4	95496845	95496845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttccacaaacaacatgGcctacaataaggcaccacgg	6	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:95496845G>A	ENST00000317968.4	+	5	506	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.A2T|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000514743.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	124					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAACATGGCCTACAATAA	0.463																																					p.A124T		.											.	PDLIM5-117	0			c.G370A						.						228	203	211					4																	95496845		2203	4300	6503	SO:0001583	missense	10611	exon5			AACATGGCCTACA	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.370G>A	4.37:g.95496845G>A	ENSP00000321746:p.Ala124Thr	Somatic	291	4		WXS	Illumina GAIIx	Phase_I	303	123	NM_006457	0	0	6	7	1	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456482	0.43634	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.62788	0.62;-0.0	5.25	1.63	0.23807	.	0.496524	0.22104	N	0.064568	T	0.53948	0.1828	M	0.65975	2.015	0.45806	D	0.998683	B	0.10296	0.003	B	0.08055	0.003	T	0.41893	-0.9483	10	0.14656	T	0.56	.	9.9923	0.41879	0.2748:0.0:0.7252:0.0	.	124	Q96HC4	PDLI5_HUMAN	T	124;2	ENSP00000321746:A124T;ENSP00000442187:A2T	ENSP00000321746:A124T	A	+	1	0	PDLIM5	95715868	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.595000	0.61048	0.049000	0.15920	-0.140000	0.14226	GCC	.		0.463	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			A	95496845	G	A	95496845	3	1	62	1	0	0	0	0	1	0	0	0	11722	1203	42	3	384	3	PDLIM5	4	95496845	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	949380	95496845	95657431	409	12777											
ADH7	131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	100349715	100349715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttgcctcatgtcccacaaTcactggaaacttggacacca	7	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:100349715T>A	ENST00000209665.4	-	3	469	c.229A>T	c.(229-231)Att>Ttt	p.I77F	ADH7_ENST00000476959.1_Missense_Mutation_p.I85F|ADH7_ENST00000482593.1_Missense_Mutation_p.I8F|ADH7_ENST00000437033.2_Missense_Mutation_p.I65F	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	77					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TGTCCCACAATCACTGGAAAC	0.433																																					p.I85F		.											.	ADH7-227	0			c.A253T						.						264	216	232					4																	100349715		2203	4300	6503	SO:0001583	missense	131	exon3			CCACAATCACTGG	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.229A>T	4.37:g.100349715T>A	ENSP00000209665:p.Ile77Phe	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	132	51	NM_001166504	0	0	0	0	0	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009327	0.54361	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	4.13	2.91	0.33838	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.116516	0.64402	D	0.000019	T	0.26593	0.0650	H	0.95850	3.73	0.45427	D	0.998409	D	0.63046	0.992	D	0.65684	0.937	T	0.04128	-1.0975	10	0.87932	D	0	-20.3212	8.0114	0.30355	0.0:0.1711:0.0:0.8289	.	77	P40394	ADH7_HUMAN	F	65;77;8;85;8	ENSP00000414254:I65F;ENSP00000209665:I77F;ENSP00000420613:I8F;ENSP00000420269:I85F;ENSP00000420300:I8F	ENSP00000209665:I77F	I	-	1	0	ADH7	100568738	0.173000	0.23056	0.003000	0.11579	0.955000	0.61496	0.895000	0.28363	0.617000	0.30160	0.533000	0.62120	ATT	.		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		A	100349715	T	A	100349715	3	1	62	1	0	0	0	0	1	0	0	0	313	1435	50	5	959	5	ADH7	4	100349715	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4852870	100349715	90804561	410	12778											
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr4	104066472	104066472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatattaaattgttcctctTtctcataaatctcttggatc	3	8	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:104066472T>C	ENST00000265148.3	-	32	4681	c.4592A>G	c.(4591-4593)aAa>aGa	p.K1531R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1506R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1531					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)		TTGTTCCTCTTTCTCATAAAT	0.299																																					p.K1531R		.											.	CENPE-277	0			c.A4592G						.						37	37	37					4																	104066472		2202	4297	6499	SO:0001583	missense	1062	exon32			TCCTCTTTCTCAT	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.4592A>G	4.37:g.104066472T>C	ENSP00000265148:p.Lys1531Arg	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	12	5	NM_001813	0	0	3	3	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	8.714	0.912828	0.17907	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.77620	-1.11;-0.92	4.44	4.44	0.53790	.	.	.	.	.	T	0.81456	0.4826	L	0.52573	1.65	0.09310	N	1	D;D	0.71674	0.998;0.991	D;P	0.78314	0.991;0.777	T	0.68481	-0.5397	9	0.20519	T	0.43	.	7.3141	0.26491	0.1954:0.0:0.0:0.8046	.	1506;1531	Q02224-3;Q02224	.;CENPE_HUMAN	R	1531;1531;1506	ENSP00000265148:K1531R;ENSP00000369365:K1506R	ENSP00000265148:K1531R	K	-	2	0	CENPE	104285921	0.343000	0.24818	0.186000	0.23195	0.055000	0.15305	1.359000	0.34113	1.859000	0.53934	0.448000	0.29417	AAA	.		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104066472	T	C	104066472	3	2	62	1	0	0	0	0	1	0	0	0	3237	1841	64	4	3585	4	CENPE	4	104066472	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3716757	104066472	87087804	411	12779											
TET2	54790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	106196337	106196337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcagacagagtctgTcaactcttattctgcttctg	6	13	7	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:106196337T>A	ENST00000540549.1	+	11	5530	c.4670T>A	c.(4669-4671)gTc>gAc	p.V1557D	TET2_ENST00000513237.1_Missense_Mutation_p.V1578D|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.V1557D			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1557					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGAGTCTGTCAACTCTTAT	0.532			"Mis N, F"		MDS																																p.V1557D		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	0			c.T4670A						.						138	120	125					4																	106196337		692	1591	2283	SO:0001583	missense	54790	exon11			AGTCTGTCAACTC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4670T>A	4.37:g.106196337T>A	ENSP00000442788:p.Val1557Asp	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	178	78	NM_001127208	0	0	1	2	1	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476562	0.26511	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.23348	1.91;1.91;1.91	5.44	1.73	0.24493	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.32224	0.0822	M	0.63843	1.955	0.09310	N	1	P;P	0.42161	0.772;0.772	P;P	0.46629	0.522;0.522	T	0.14364	-1.0475	9	0.72032	D	0.01	-0.2342	8.3096	0.32062	0.0:0.239:0.0:0.761	.	1578;1557	E7EQS8;Q6N021	.;TET2_HUMAN	D	1557;1578;1557	ENSP00000442788:V1557D;ENSP00000425443:V1578D;ENSP00000369351:V1557D	ENSP00000369351:V1557D	V	+	2	0	TET2	106415786	0.001000	0.12720	0.000000	0.03702	0.155000	0.21991	1.088000	0.30877	0.064000	0.16427	0.482000	0.46254	GTC	.		0.532	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106196337	T	A	106196337	3	1	62	1	0	0	0	0	1	0	0	0	15817	1667	58	5	4793	5	TET2	4	106196337	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2129865	106196337	84957939	412	12780											
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	110460806	110460806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactatgaatttttgcttcAtgttcagcagcagatttgta	7	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:110460806A>G	ENST00000265175.5	+	24	3837	c.3782A>G	c.(3781-3783)cAt>cGt	p.H1261R	SEC24B_ENST00000399100.2_Missense_Mutation_p.H1226R|SEC24B_ENST00000504968.2_Missense_Mutation_p.H1291R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1261					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)		TTTTTGCTTCATGTTCAGCAG	0.368																																					p.H1261R		.											.	SEC24B-137	0			c.A3782G						.						83	73	76					4																	110460806		1807	4077	5884	SO:0001583	missense	10427	exon24			TGCTTCATGTTCA	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.3782A>G	4.37:g.110460806A>G	ENSP00000265175:p.His1261Arg	Somatic	40	0		WXS	Illumina GAIIx	Phase_I	42	20	NM_006323	0	0	36	65	29	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407360	0.62399	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.31510	1.49;1.49;1.49	5.31	5.31	0.75309	.	0.145667	0.64402	D	0.000009	T	0.45135	0.1327	M	0.84082	2.675	0.80722	D	1	B;B;B;B;B	0.32876	0.229;0.062;0.388;0.339;0.229	B;B;B;B;B	0.39068	0.15;0.064;0.197;0.289;0.15	T	0.51505	-0.8697	10	0.72032	D	0.01	-24.3318	15.441	0.75181	1.0:0.0:0.0:0.0	.	1175;860;1291;1226;1261	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	R	1291;1226;1261	ENSP00000428564:H1291R;ENSP00000382051:H1226R;ENSP00000265175:H1261R	ENSP00000265175:H1261R	H	+	2	0	SEC24B	110680255	1.000000	0.71417	0.934000	0.37439	0.988000	0.76386	9.028000	0.93712	2.243000	0.73865	0.482000	0.46254	CAT	.		0.368	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			G	110460806	A	G	110460806	3	3	62	1	0	0	0	0	1	0	0	0	14040	217	8	4	3876	4	SEC24B	4	110460806	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4264469	110460806	80693470	413	12781											
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	111539802	111539802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcggcctgctggttgcGctccctctttctccatttgg	10	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:111539802G>A	ENST00000354925.2	-	7	2138	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.R99C|PITX2_ENST00000306732.3_Missense_Mutation_p.R152C|PITX2_ENST00000394598.2_Missense_Mutation_p.R145C|PITX2_ENST00000394595.3_Missense_Mutation_p.A76V	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	145					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGCTGGTTGCGCTCCCTCTTT	0.542																																					p.R152C		.											.	PITX2-650	0			c.C454T						.						82	81	81					4																	111539802		2203	4300	6503	SO:0001583	missense	5308	exon3			GGTTGCGCTCCCT	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.433C>T	4.37:g.111539802G>A	ENSP00000347004:p.Arg145Cys	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	138	64	NM_000325	0	0	0	0	0	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.141404|4.141404	0.77775|0.77775	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049;ENST00000511990	.|D;D;D;D;D;D;D	.|0.95980	.|-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	.|0.092123	.|0.64402	.|D	.|0.000001	D|D	0.97651|0.97651	0.9230|0.9230	M|M	0.86740|0.86740	2.835|2.835	0.24406|0.24406	N|N	0.994687|0.994687	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.991;0.988;1.0;0.996	D|D	0.92927|0.92927	0.6360|0.6360	6|10	0.66056|0.87932	D|D	0.02|0	.|.	12.657|12.657	0.56793|0.56793	0.0:0.0:0.7364:0.2636|0.0:0.0:0.7364:0.2636	.|.	.|99;99;145;152	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	V|C	76|152;145;99;145;145;69;99	.|ENSP00000304169:R152C;ENSP00000378097:R145C;ENSP00000347192:R99C;ENSP00000347004:R145C;ENSP00000421454:R145C;ENSP00000450938:R69C;ENSP00000424142:R99C	ENSP00000378095:A76V|ENSP00000304169:R152C	A|R	-|-	2|1	0|0	PITX2|PITX2	111759251|111759251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.311000|2.311000	0.43717|0.43717	2.625000|2.625000	0.88918|0.88918	0.563000|0.563000	0.77884|0.77884	GCG|CGC	.		0.542	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			A	111539802	G	A	111539802	3	1	62	1	0	0	0	0	1	0	0	0	11994	1087	38	1	524	1	PITX2	4	111539802	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1078996	111539802	79614474	414	12782											
C4orf21	55345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	113484389	113484389	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actacatgcgataaaagtatCcagctcaaagtctagggttt	8	8	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:113484389C>G	ENST00000505019.1	-	17	4605	c.4480G>C	c.(4480-4482)Gat>Cat	p.D1494H		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1494						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATAAAAGTATCCAGCTCAAAG	0.338																																					p.D1494H		.											.	C4orf21-90	0			c.G4480C						.						58	61	60					4																	113484389		1763	3196	4959	SO:0001583	missense	55345	exon17			AAGTATCCAGCTC																												ENST00000505019.1:c.4480G>C	4.37:g.113484389C>G	ENSP00000424737:p.Asp1494His	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	153	67	NM_018392	0	0	1	1	0	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.950924	0.73787	.	.	ENSG00000138658	ENST00000505019	T	0.33216	1.42	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.57431	0.2053	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.59621	-0.7420	10	0.87932	D	0	-13.195	19.5629	0.95380	0.0:1.0:0.0:0.0	.	1494	G5EA02	.	H	1494	ENSP00000424737:D1494H	ENSP00000404365:D392H	D	-	1	0	C4orf21	113703838	1.000000	0.71417	0.996000	0.52242	0.797000	0.45037	3.684000	0.54671	2.701000	0.92244	0.460000	0.39030	GAT	.		0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			G	113484389	C	G	113484389	3	3	62	1	0	0	0	0	1	0	0	0	2261	855	30	3	1882	3	C4orf21	4	113484389	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1944587	113484389	77669887	415	12783											
NDST3	9348	bcgsc.ca	37	chr4	118975230	118975230	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaagttgactgtggcgacctCcaacacctaccatatcaact	7	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:118975230C>A	ENST00000296499.5	+	2	568	c.165C>A	c.(163-165)ctC>ctA	p.L55L	NDST3_ENST00000433996.2_Silent_p.L55L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	55	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTGGCGACCTCCAACACCTAC	0.443																																					p.L55L		.											.	NDST3-153	0			c.C165A						.						115	113	114					4																	118975230		2203	4300	6503	SO:0001819	synonymous_variant	9348	exon2			CGACCTCCAACAC	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.165C>A	4.37:g.118975230C>A		Somatic	220	2		WXS	Illumina GAIIx	Phase_I	237	11	NM_004784	0	0	0	0	0	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	CCDS3708.1																																																																																			.		0.443	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		A	118975230	C	A	118975230	2	1	62	1	0	0	0	0	0	0	0	1	10296	842	30	3		3	NDST3	4	118975230	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5490841	118975230	72179046	416	12784											
PRDM5	11107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	121616316	121616316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgtgcactttgaggtagtCattccttgtaaacttcttat	7	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:121616316C>T	ENST00000264808.3	-	16	2083	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.D584N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	615					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGAGGTAGTCATTCCTTGTA	0.413																																					p.D615N		.											.	PRDM5-91	0			c.G1843A						.						150	145	147					4																	121616316		2203	4300	6503	SO:0001583	missense	11107	exon16			GGTAGTCATTCCT	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1843G>A	4.37:g.121616316C>T	ENSP00000264808:p.Asp615Asn	Somatic	94	0		WXS	Illumina GAIIx	Phase_I	57	39	NM_018699	0	0	0	0	0	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422464	0.96111	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.52754	0.65;0.65	5.62	5.62	0.85841	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	0.63367	0.2505	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.64193	-0.6465	10	0.66056	D	0.02	-29.7161	19.6358	0.95733	0.0:1.0:0.0:0.0	.	584;615	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	N	615;584	ENSP00000264808:D615N;ENSP00000404832:D584N	ENSP00000264808:D615N	D	-	1	0	PRDM5	121835766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.378000	0.79679	2.636000	0.89361	0.655000	0.94253	GAC	.		0.413	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			T	121616316	C	T	121616316	3	4	62	1	0	0	0	0	1	0	0	0	12502	826	29	3	53	3	PRDM5	4	121616316	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2641086	121616316	69537960	417	12785											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126373258	126373258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcacagtcacgagcaAcatccgagttttctttgctg	8	12	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:126373258A>G	ENST00000394329.3	+	9	11100	c.11087A>G	c.(11086-11088)aAc>aGc	p.N3696S	FAT4_ENST00000335110.5_Missense_Mutation_p.N1994S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3696					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						GTCACGAGCAACATCCGAGTT	0.483																																					p.N3696S		.											.	FAT4-108	0			c.A11087G						.						175	165	168					4																	126373258		2203	4300	6503	SO:0001583	missense	79633	exon9			CGAGCAACATCCG	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.11087A>G	4.37:g.126373258A>G	ENSP00000377862:p.Asn3696Ser	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	99	81	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	3.795	-0.042899	0.07452	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.43688	0.94;0.94	5.77	-2.94	0.05581	.	0.193914	0.23791	U	0.044526	T	0.10637	0.0260	N	0.01352	-0.895	0.22171	N	0.99931	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.32188	-0.9916	10	0.08599	T	0.76	.	6.8552	0.24036	0.3917:0.2317:0.3766:0.0	.	1994;3696;3696	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3696;1994	ENSP00000377862:N3696S;ENSP00000335169:N1994S	ENSP00000335169:N1994S	N	+	2	0	FAT4	126592708	0.294000	0.24380	0.008000	0.14137	0.931000	0.56810	0.931000	0.28871	-0.729000	0.04875	0.459000	0.35465	AAC	.		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126373258	A	G	126373258	3	3	62	1	0	0	0	0	1	0	0	0	5714	43	2	4	11121	4	FAT4	4	126373258	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4756942	126373258	64781018	418	12786											
PCDH10	57575	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134071935	134071935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtgggggaggagtaggaGaaggagggggaggtggcggg	28	1	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:134071935G>A	ENST00000264360.5	+	1	1466	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(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)		aggagtaggagaaggaggggg	0.677																																					p.E214K		.											.	PCDH10-92	0			c.G640A						.						28	31	30					4																	134071935		2202	4297	6499	SO:0001583	missense	57575	exon1			GTAGGAGAAGGAG	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.640G>A	4.37:g.134071935G>A	ENSP00000264360:p.Glu214Lys	Somatic	58	1		WXS	Illumina GAIIx	Phase_I	36	28	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728161	0.30593	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	4.42	4.42	0.53409	Cadherin (3);Cadherin-like (1);	0.865962	0.09617	N	0.778135	T	0.24736	0.0600	N	0.08118	0	0.21416	N	0.999692	B;P	0.46952	0.003;0.887	B;B	0.32864	0.002;0.154	T	0.02477	-1.1153	10	0.32370	T	0.25	.	12.3906	0.55356	0.0:0.0:1.0:0.0	.	214;214	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	214	ENSP00000264360:E214K	ENSP00000264360:E214K	E	+	1	0	PCDH10	134291385	0.719000	0.27986	0.234000	0.24042	0.943000	0.58893	4.017000	0.57167	2.261000	0.74972	0.561000	0.74099	GAA	.		0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071935	G	A	134071935	3	1	62	1	0	0	0	0	1	0	0	0	11546	943	33	3	642	3	PCDH10	4	134071935	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7698677	134071935	57082341	419	12787											
MAML3	55534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	140811799	140811799	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagatggtgaagctaTcctccaggtcactgcaaccg	10	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:140811799T>A	ENST00000509479.2	-	2	1647	c.791A>T	c.(790-792)gAt>gTt	p.D264V	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.D108V	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)					GGTGAAGCTATCCTCCAGGTC	0.448																																					p.D264V		.											.	MAML3-455	0			c.A791T						.						152	143	146					4																	140811799		1960	4148	6108	SO:0001583	missense	55534	exon2			AAGCTATCCTCCA	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.791A>T	4.37:g.140811799T>A	ENSP00000421180:p.Asp264Val	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	70	43	NM_018717	0	0	1	3	2		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524515	0.44969	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.37058	1.22	5.24	5.24	0.73138	.	0.055427	0.64402	D	0.000002	T	0.38852	0.1056	L	0.59436	1.845	0.80722	D	1	P	0.38250	0.624	B	0.37943	0.261	T	0.40117	-0.9580	10	0.87932	D	0	.	15.1648	0.72814	0.0:0.0:0.0:1.0	.	264	Q96JK9	MAML3_HUMAN	V	264;108	ENSP00000421180:D264V	ENSP00000313316:D108V	D	-	2	0	MAML3	141031249	1.000000	0.71417	0.844000	0.33320	0.798000	0.45092	7.495000	0.81514	1.962000	0.57031	0.477000	0.44152	GAT	.		0.448	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			A	140811799	T	A	140811799	3	1	62	1	0	0	0	0	1	0	0	0	9245	1435	50	5	2633	5	MAML3	4	140811799	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	6739864	140811799	50342477	420	12788											
HHIP	64399	broad.mit.edu	37	chr4	145629444	145629444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgaagtgtttgctcatGggctccacgatccaggcagg	12	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:145629444G>A	ENST00000296575.3	+	7	1937	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	428					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTTTGCTCATGGGCTCCACGA	0.522																																					p.G428R		.											.	HHIP-283	0			c.G1282A						.						112	93	99					4																	145629444		2203	4300	6503	SO:0001583	missense	64399	exon7			GCTCATGGGCTCC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1282G>A	4.37:g.145629444G>A	ENSP00000296575:p.Gly428Arg	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	43	4	NM_022475	0	0	0	0	0	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293821	0.95546	.	.	ENSG00000164161	ENST00000296575	T	0.71222	-0.55	6.03	6.03	0.97812	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91206	0.4995	10	0.87932	D	0	-16.5937	20.5752	0.99366	0.0:0.0:1.0:0.0	.	428	Q96QV1	HHIP_HUMAN	R	428	ENSP00000296575:G428R	ENSP00000296575:G428R	G	+	1	0	HHIP	145848894	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	GGG	.		0.522	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145629444	G	A	145629444	3	1	62	1	0	0	0	0	1	0	0	0	7119	1348	47	3	1308	3	HHIP	4	145629444	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4817645	145629444	45524832	421	12789											
NR3C2	4306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	149041326	149041326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtgcttagtagcagcAaaactttcatgatggtgtat	9	6	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:149041326A>G	ENST00000358102.3	-	7	2986	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	NR3C2_ENST00000511528.1_Missense_Mutation_p.L879S|NR3C2_ENST00000512865.1_Missense_Mutation_p.L758S|NR3C2_ENST00000355292.3_Missense_Mutation_p.L879S|NR3C2_ENST00000344721.4_Missense_Mutation_p.L875S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	875	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TAGTAGCAGCAAAACTTTCAT	0.433																																					p.L875S	Melanoma(27;428 957 40335 51025 51111)	.											.	NR3C2-154	0			c.T2624C						.						147	132	137					4																	149041326		2203	4300	6503	SO:0001583	missense	4306	exon7			AGCAGCAAAACTT	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2624T>C	4.37:g.149041326A>G	ENSP00000350815:p.Leu875Ser	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	56	41	NM_000901	0	0	0	0	0	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024283	0.75390	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.98321	0.9443	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98925	1.0785	9	.	.	.	.	15.6453	0.77042	1.0:0.0:0.0:0.0	.	758;875	B0ZBF5;B0ZBF6	.;.	S	875;879;875;758;879	ENSP00000341390:L875S;ENSP00000347441:L879S;ENSP00000350815:L875S;ENSP00000423510:L758S;ENSP00000421481:L879S	.	L	-	2	0	NR3C2	149260776	1.000000	0.71417	0.922000	0.36590	0.791000	0.44710	9.300000	0.96151	2.102000	0.63906	0.454000	0.30748	TTG	.		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			G	149041326	A	G	149041326	3	3	62	1	0	0	0	0	1	0	0	0	10670	131	5	4	342	4	NR3C2	4	149041326	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3411882	149041326	42112950	422	12790											
DCLK2	166614	hgsc.bcm.edu;bcgsc.ca	37	chr4	151000382	151000384	+	In_Frame_Del	DEL	AGA	AGA	-													cctgcaggccctcagctcggAgaagaaggccaagaaggcgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:151000382_151000384delAGA	ENST00000296550.7	+	1	957_959	c.203_205delAGA	c.(202-207)gagaag>gag	p.K70del	DCLK2_ENST00000302176.8_In_Frame_Del_p.K70del|DCLK2_ENST00000506325.1_In_Frame_Del_p.K70del	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	70					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCAGCTCGGAGAAGAAGGCCAA	0.66																																					p.68_69del	GBM(195;186 2215 13375 16801 37459)	.											.	DCLK2-300	0			c.203_205del						.																																			SO:0001651	inframe_deletion	166614	exon1			GCTCGGAGAAGAA	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.203_205delAGA	4.37:g.151000385_151000387delAGA	ENSP00000296550:p.Lys70del	Somatic	335	1		WXS	Illumina GAIIx	Phase_I	279	209	NM_001040260	0	0	0	0	0	C9J5Q9|Q59GC8|Q8N399	In_Frame_Del	DEL	ENST00000296550.7	37	CCDS34076.1																																																																																			.		0.66	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		-	151000384	AGA	-	151000382	7	5	62	1	0	1	0	1	0	0	0	0	4301	304	11	0	205	0	DCLK2	4	151000382	In_Frame_Del	DEL	AGA	TCGA-PK-A5HB-01A-11D-A29I-10	1959056	151000382	40153894	423	12791											
PET112L	5188	broad.mit.edu	37	chr4	152638110	152638110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctccaactggatctgCttgatcctcaccgtcttggg	9	13	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:152638110C>T	ENST00000515812.1	-	4	574	c.558G>A	c.(556-558)aaG>aaA	p.K186K	PET112_ENST00000263985.6_Silent_p.K186K|PET112_ENST00000512306.1_Silent_p.K186K																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						ACTGGATCTGCTTGATCCTCA	0.527																																					p.K186K		.											.	PET112-90	0			c.G558A						.						218	189	199					4																	152638110		2203	4300	6503	SO:0001819	synonymous_variant	5188	exon4			GATCTGCTTGATC																												ENST00000515812.1:c.558G>A	4.37:g.152638110C>T		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_004564	0	0	25	25	0		Silent	SNP	ENST00000515812.1	37																																																																																				.		0.527	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			T	152638110	C	T	152638110	2	4	62	1	0	0	0	0	0	0	0	1	11773	796	28	3		3	PET112L	4	152638110	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1637728	152638110	38516166	424	12792											
TLR2	7097	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	154624389	154624392	+	Frame_Shift_Del	DEL	TTAC	TTAC	-													catttagacttatcctataaTtacttatctaatttatcgtc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TTAC	TTAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:154624389_154624392delTTAC	ENST00000260010.6	+	1	1738_1741	c.330_333delTTAC	c.(328-333)aattacfs	p.NY110fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	110					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TATCCTATAATTACTTATCTAATT	0.382																																					p.110_111del		.											.	TLR2-523	0			c.330_333del						.																																			SO:0001589	frameshift_variant	7097	exon3			CTATAATTACTTA	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.330_333delTTAC	4.37:g.154624389_154624392delTTAC	ENSP00000260010:p.Asn110fs	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	50	33	NM_003264	0	0	0	0	0	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Del	DEL	ENST00000260010.6	37	CCDS3784.1																																																																																			.		0.382	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			-	154624392	TTAC	-	154624389	7	5	62	1	0	1	0	1	0	0	0	0	15998	1490	52	0	332	0	TLR2	4	154624389	Frame_Shift_Del	DEL	TTAC	TCGA-PK-A5HB-01A-11D-A29I-10	1986279	154624389	36529887	425	12793											
GUCY1A3	2982	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	156638325	156638325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaggtggagaccattggCgatgcctattgtgtagctgg	15	7	1	1	rs112384014		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:156638325C>T	ENST00000296518.7	+	8	1796	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	GUCY1A3_ENST00000393832.3_Silent_p.G271G|GUCY1A3_ENST00000513574.1_Silent_p.G529G|GUCY1A3_ENST00000506455.1_Silent_p.G529G|GUCY1A3_ENST00000511108.1_Silent_p.G529G|GUCY1A3_ENST00000455639.2_Silent_p.G529G|GUCY1A3_ENST00000511507.1_Silent_p.G529G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	529	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.G529G(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)		AGACCATTGGCGATGCCTATT	0.413																																					p.G529G		.											.	GUCY1A3-93	1	Substitution - coding silent(1)	large_intestine(1)	c.C1587T						.						135	130	132					4																	156638325		2203	4300	6503	SO:0001819	synonymous_variant	2982	exon8			CATTGGCGATGCC		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.1587C>T	4.37:g.156638325C>T		Somatic	227	2		WXS	Illumina GAIIx	Phase_I	139	102	NM_001130687	0	0	5	6	1	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																			C|0.500;T|0.500		0.413	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			T	156638325	C	T	156638325	2	4	62	1	0	0	0	0	0	0	0	1	6921	755	27	1		1	GUCY1A3	4	156638325	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2013936	156638325	34515951	426	12794											
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	159092094	159092094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagggatggtccgaccAaagcctcctgccctggggca	14	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:159092094A>G	ENST00000296530.8	-	2	1055	c.434T>C	c.(433-435)tTg>tCg	p.L145S	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.L145S|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L145S|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.L145S|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	145						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGTCCGACCAAAGCCTCCTG	0.612																																					p.L145S		.											.	FAM198B-90	0			c.T434C						.						63	62	62					4																	159092094		2203	4299	6502	SO:0001583	missense	51313	exon2			CCGACCAAAGCCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.434T>C	4.37:g.159092094A>G	ENSP00000296530:p.Leu145Ser	Somatic	117	0		WXS	Illumina GAIIx	Phase_I	68	55	NM_016613	0	0	4	9	5	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	A	8.679	0.904715	0.17760	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.48;1.48	4.96	-0.489	0.12052	.	0.595355	0.17296	N	0.179466	T	0.18299	0.0439	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26081	0.138;0.141;0.114	B;B;B	0.23150	0.037;0.044;0.032	T	0.14254	-1.0479	10	0.22109	T	0.4	-7.276	1.8164	0.03101	0.3218:0.3783:0.1776:0.1223	.	145;145;145	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	S	145	ENSP00000296530:L145S;ENSP00000377396:L145S	ENSP00000296530:L145S	L	-	2	0	FAM198B	159311544	0.005000	0.15991	0.001000	0.08648	0.148000	0.21650	1.288000	0.33296	0.057000	0.16193	0.533000	0.62120	TTG	.		0.612	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		G	159092094	A	G	159092094	3	3	62	1	0	0	0	0	1	0	0	0	5548	131	5	4	1246	4	FAM198B	4	159092094	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2453769	159092094	32062182	427	12795											
NAF1	92345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	164050138	164050138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggggtgggggtagggagtAtggtaagttaagtaatggat	20	0	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:164050138A>G	ENST00000274054.2	-	8	1589	c.1396T>C	c.(1396-1398)Tac>Cac	p.Y466H	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	466	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)				ggtagggAGTATGGTAAGTTA	0.527																																					p.Y466H		.											.	NAF1-70	0			c.T1396C						.						10	9	9					4																	164050138		2180	4257	6437	SO:0001583	missense	92345	exon8			GGGAGTATGGTAA		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.1396T>C	4.37:g.164050138A>G	ENSP00000274054:p.Tyr466His	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	10	8	NM_138386	0	0	0	0	0	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494446	0.26774	.	.	ENSG00000145414	ENST00000274054	T	0.34072	1.38	4.49	4.49	0.54785	.	0.709548	0.13246	N	0.402480	T	0.41465	0.1160	L	0.29908	0.895	0.09310	N	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.25751	T	0.34	-11.4497	10.7562	0.46239	1.0:0.0:0.0:0.0	.	466	Q96HR8	NAF1_HUMAN	H	466	ENSP00000274054:Y466H	ENSP00000274054:Y466H	Y	-	1	0	NAF1	164269588	0.990000	0.36364	0.017000	0.16124	0.027000	0.11550	4.158000	0.58150	1.964000	0.57103	0.533000	0.62120	TAC	.		0.527	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164050138	A	G	164050138	3	3	62	1	0	0	0	0	1	0	0	0	10178	449	16	4	233	4	NAF1	4	164050138	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4958044	164050138	27104138	428	12796											
NPY5R	4889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	164271440	164271440	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataatatggatttagagctCgacgagtattataacaagac	8	5	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:164271440C>T	ENST00000515560.1	+	4	1537	c.15C>T	c.(13-15)ctC>ctT	p.L5L	NPY5R_ENST00000338566.3_Silent_p.L5L|NPY5R_ENST00000506953.1_Silent_p.L5L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	5					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTAGAGCTCGACGAGTATT	0.368																																					p.L5L	Melanoma(139;1287 1774 9781 19750 25599)	.											.	NPY5R-523	0			c.C15T						.						56	58	57					4																	164271440		2203	4300	6503	SO:0001819	synonymous_variant	4889	exon4			AGAGCTCGACGAG	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.15C>T	4.37:g.164271440C>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	18	13	NM_006174	0	0	0	0	0	Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	CCDS3804.1																																																																																			.		0.368	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		T	164271440	C	T	164271440	2	4	62	1	0	0	0	0	0	0	0	1	10649	871	31	1		1	NPY5R	4	164271440	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	221302	164271440	26882836	429	12797											
AGA	175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	178358622	178358622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatatcctgctttaagaTaccaggtggtttgtagggtc	12	6	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:178358622T>C	ENST00000264595.2	-	5	686	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	187					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGCTTTAAGATACCAGGTGGT	0.338																																					p.I187V		.											.	AGA-90	0			c.A559G						.						126	125	125					4																	178358622		2203	4300	6503	SO:0001583	missense	175	exon5			TTAAGATACCAGG	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.559A>G	4.37:g.178358622T>C	ENSP00000264595:p.Ile187Val	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	108	88	NM_000027	0	0	1	20	19	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	7.499	0.652178	0.14580	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.87179	-2.22;-1.8	5.53	-6.09	0.02145	.	1.417520	0.03835	N	0.269728	T	0.72277	0.3440	N	0.17838	0.53	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.56817	-0.7916	10	0.26408	T	0.33	-20.7818	2.5096	0.04653	0.3797:0.3569:0.1004:0.163	.	187	P20933	ASPG_HUMAN	V	187;72	ENSP00000264595:I187V;ENSP00000423798:I72V	ENSP00000264595:I187V	I	-	1	0	AGA	178595616	0.000000	0.05858	0.002000	0.10522	0.195000	0.23768	-1.352000	0.02619	-0.812000	0.04363	0.533000	0.62120	ATC	.		0.338	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		C	178358622	T	C	178358622	3	2	62	1	0	0	0	0	1	0	0	0	365	1406	49	4	501	4	AGA	4	178358622	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	14087182	178358622	12795654	430	12798											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	187532668	187532668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttccaacaagaatgTcctcagacacggtggcacca	8	13	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:187532668T>C	ENST00000441802.2	-	14	9934	c.9725A>G	c.(9724-9726)gAc>gGc	p.D3242G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3242	Cadherin 30. {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						AACAAGAATGTCCTCAGACAC	0.433										HNSCC(5;0.00058)																											p.D3242G	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.A9725G						.						71	70	70					4																	187532668		1951	4148	6099	SO:0001583	missense	2195	exon14			AGAATGTCCTCAG	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.9725A>G	4.37:g.187532668T>C	ENSP00000406229:p.Asp3242Gly	Somatic	348	1		WXS	Illumina GAIIx	Phase_I	215	170	NM_005245	0	0	2	10	8		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199478	0.58126	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.38887	1.11	5.34	5.34	0.76211	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.45744	1.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56703	-0.7935	10	0.45353	T	0.12	.	15.4829	0.75542	0.0:0.0:0.0:1.0	.	3242	Q14517	FAT1_HUMAN	G	3242;3244	ENSP00000406229:D3242G	ENSP00000260147:D3244G	D	-	2	0	FAT1	187769662	1.000000	0.71417	0.977000	0.42913	0.085000	0.17905	7.864000	0.87037	2.241000	0.73720	0.528000	0.53228	GAC	.		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187532668	T	C	187532668	3	2	62	1	0	0	0	0	1	0	0	0	5711	1667	58	4	4097	4	FAT1	4	187532668	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	9174046	187532668	3621608	431	12799											
SDHA	6389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	236583	236583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatcagattgtgcccgGcctgtacgcctgtggggagg	16	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:236583G>A	ENST00000264932.6	+	10	1416	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SDHA_ENST00000504309.1_Missense_Mutation_p.G434D|SDHA_ENST00000510361.1_Missense_Mutation_p.G386D	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	434					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTGTGCCCGGCCTGTACGCC	0.602									Familial Paragangliomas																												p.G434D		.											.	SDHA-226	0			c.G1301A						.						51	48	49					5																	236583		2203	4298	6501	SO:0001583	missense	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCCGGCCTGTA	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.1301G>A	5.37:g.236583G>A	ENSP00000264932:p.Gly434Asp	Somatic	325	0		WXS	Illumina GAIIx	Phase_I	467	194	NM_004168	0	0	149	283	134	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.694928	0.68386	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	D;D;D	0.81739	-1.53;-1.53;-1.53	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.219655	0.38164	U	0.001793	D	0.93307	0.7867	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.982;0.99;0.995;0.99;0.989	D	0.95499	0.8576	10	0.87932	D	0	.	16.16	0.81698	0.0:0.0:1.0:0.0	.	386;434;28;434;434	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	D	434;289;434;386	ENSP00000264932:G434D;ENSP00000426514:G434D;ENSP00000427703:G386D	ENSP00000264932:G434D	G	+	2	0	SDHA	289583	1.000000	0.71417	0.804000	0.32291	0.076000	0.17211	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GGC	.		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	236583	G	A	236583	3	1	62	1	0	0	0	0	1	0	0	0	14008	1203	42	3	1339	3	SDHA	5	236583	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		236583	180678677	432	12800											
SLC12A7	10723	broad.mit.edu;bcgsc.ca	37	chr5	1064007	1064007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcaagtggtacaagaaCatctgcaggtccttcttcat	9	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:1064007C>A	ENST00000264930.5	-	20	2734	c.2691G>T	c.(2689-2691)atG>atT	p.M897I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	897					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)	GGTACAAGAACATCTGCAGGT	0.627																																					p.M897I		.											.	SLC12A7-138	0			c.G2691T						.						131	100	111					5																	1064007		2203	4300	6503	SO:0001583	missense	10723	exon20			CAAGAACATCTGC	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.2691G>T	5.37:g.1064007C>A	ENSP00000264930:p.Met897Ile	Somatic	133	1		WXS	Illumina GAIIx	Phase_I	230	104	NM_006598	0	0	10	22	12	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.498436|1.498436	0.26861|0.26861	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.86432|.	-2.12|.	4.25|4.25	1.31|1.31	0.21738|0.21738	.|.	0.537042|.	0.22245|.	N|.	0.062629|.	T|T	0.57169|0.57169	0.2035|0.2035	M|M	0.66506|0.66506	2.035|2.035	0.41784|0.41784	D|D	0.989833|0.989833	B|.	0.11235|.	0.004|.	B|.	0.06405|.	0.002|.	T|T	0.50432|0.50432	-0.8829|-0.8829	10|5	0.45353|.	T|.	0.12|.	.|.	3.6182|3.6182	0.08085|0.08085	0.1601:0.4366:0.3118:0.0914|0.1601:0.4366:0.3118:0.0914	.|.	897|.	Q9Y666|.	S12A7_HUMAN|.	I|F	897|255	ENSP00000264930:M897I|.	ENSP00000264930:M897I|.	M|V	-|-	3|1	0|0	SLC12A7|SLC12A7	1117007|1117007	0.292000|0.292000	0.24362|0.24362	0.888000|0.888000	0.34837|0.34837	0.741000|0.741000	0.42261|0.42261	-0.183000|-0.183000	0.09712|0.09712	-0.050000|-0.050000	0.13356|0.13356	0.305000|0.305000	0.20034|0.20034	ATG|GTT	.		0.627	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		A	1064007	C	A	1064007	3	1	62	1	0	0	0	0	1	0	0	0	14433	478	17	3	580	3	SLC12A7	5	1064007	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	827424	1064007	179851253	433	12801											
IRX4	50805	hgsc.bcm.edu	37	chr5	1882129	1882129	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgccagcgtgcggccTccggactcgcagcacgtgct	14	16	0	0	rs2232374	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:1882129T>G	ENST00000505790.1	-	3	546	c.90A>C	c.(88-90)ggA>ggC	p.G30G	IRX4_ENST00000231357.2_Silent_p.G30G|CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000513692.1_Silent_p.G30G|IRX4_ENST00000505938.1_5'Flank	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	30					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCGTGCGGCCTCCGGACTCGC	0.741													N|||	1389	0.277356	0.2821	0.3141	5008	,	,		10764	0.3313		0.2177	False		,,,				2504	0.2505				p.G30G		.											.	IRX4-226	0			c.A90C						.			440,2456		29,382,1037	2	2	2		90	-2.3	0	5	dbSNP_98	2	967,5425		81,805,2310	no	coding-synonymous	IRX4	NM_016358.2		110,1187,3347	GG,GT,TT		15.1283,15.1934,15.1486		30/520	1882129	1407,7881	1448	3196	4644	SO:0001819	synonymous_variant	50805	exon2			GCGGCCTCCGGAC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.90A>C	5.37:g.1882129T>G		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	11	4	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	CCDS3867.1																																																																																			T|0.735;G|0.265		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		G	1882129	T	G	1882129	2	3	62	1	0	0	0	0	0	0	0	1	7873	1538	54	5		5	IRX4	5	1882129	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	818122	1882129	179033131	434	12802											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13701414	13701414	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcattgcagttaaaaaTccctgggggttaaaaaaacc	9	8	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13701414T>C	ENST00000265104.4	-	77	13574	c.13470A>G	c.(13468-13470)ggA>ggG	p.G4490G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					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.G4490G(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)					CAGTTAAAAATCCCTGGGGGT	0.408									Kartagener syndrome																												p.G4490G		.											.	DNAH5-182	1	Substitution - coding silent(1)	large_intestine(1)	c.A13470G						.						76	83	81					5																	13701414		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon77	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TAAAAATCCCTGG	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.13470A>G	5.37:g.13701414T>C		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	45	20	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13701414	T	C	13701414	2	2	62	1	0	0	0	0	0	0	0	1	4618	1422	50	4		4	DNAH5	5	13701414	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	11819285	13701414	167213846	435	12803											
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	13809182	13809182	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttagcaatggtttgaattaGaaagtcagtcctcacattgt	8	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13809182G>A	ENST00000265104.4	-	46	7827	c.7723C>T	c.(7723-7725)Cta>Tta	p.L2575L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2575	AAA 3. {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)					GTTTGAATTAGAAAGTCAGTC	0.398									Kartagener syndrome																												p.L2575L		.											.	DNAH5-182	0			c.C7723T						.						147	140	142					5																	13809182		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon46	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAATTAGAAAGTC	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.7723C>T	5.37:g.13809182G>A		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	204	92	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13809182	G	A	13809182	2	1	62	1	0	0	0	0	0	0	0	1	4618	933	33	3		3	DNAH5	5	13809182	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	107768	13809182	167106078	436	12804											
DNAH5	1767	bcgsc.ca	37	chr5	13830255	13830255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttgctgggctgcaacCgagagaactggtagatcaat	12	7	1	2	rs141459197	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13830255C>T	ENST00000265104.4	-	37	6233	c.6129G>A	c.(6127-6129)tcG>tcA	p.S2043S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2043	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)					GGGCTGCAACCGAGAGAACTG	0.373									Kartagener syndrome				C|||	2	0.000399361	8e-04	0	5008	,	,		20032	0.001		0	False		,,,				2504	0				p.S2043S		.											.	DNAH5-182	0			c.G6129A						.						81	82	82					5																	13830255		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon37	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TGCAACCGAGAGA	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.6129G>A	5.37:g.13830255C>T		Somatic	190	5		WXS	Illumina GAIIx	Phase_I	266	125	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			C|0.999;T|0.001		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13830255	C	T	13830255	2	4	62	1	0	0	0	0	0	0	0	1	4618	639	23	1		1	DNAH5	5	13830255	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	21073	13830255	167085005	437	12805											
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	16711035	16711035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttggtcttccccagctgCcactcgctgttggaggcatc	10	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:16711035C>T	ENST00000513610.1	-	21	2605	c.2151G>A	c.(2149-2151)tgG>tgA	p.W717*	MYO10_ENST00000427430.2_Nonsense_Mutation_p.W74*|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000505695.1_Nonsense_Mutation_p.W56*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.W56*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.W74*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	717	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCCAGCTGCCACTCGCTGT	0.567																																					p.W717X		.											.	MYO10-3	0			c.G2151A						.						34	34	34					5																	16711035		2071	4203	6274	SO:0001587	stop_gained	4651	exon21			CAGCTGCCACTCG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2151G>A	5.37:g.16711035C>T	ENSP00000421280:p.Trp717*	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	136	51	NM_012334	0	0	6	6	0	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	44	10.647618	0.99444	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5747	0.91150	0.0:1.0:0.0:0.0	.	.	.	.	X	717;56;74;56;74;728	.	ENSP00000274203:W74X	W	-	3	0	MYO10	16764035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.447000	0.82792	0.462000	0.41574	TGG	.		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16711035	C	T	16711035	4	4	62	1	0	0	0	0	0	1	0	0	10100	740	26	3	4109	3	MYO10	5	16711035	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2880780	16711035	164204225	438	12806											
ZFR	51663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	32355934	32355934	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatcaactccatcactatCtcttcttcgtttcctgttgt	3	14	4	0	rs55686708		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:32355934C>T	ENST00000265069.8	-	20	3259	c.3157G>A	c.(3157-3159)Gat>Aat	p.D1053N	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCATCACTATCTCTTCTTCGT	0.368																																					p.D1053N		.											.	ZFR-90	0			c.G3157A						.						205	187	193					5																	32355934		2203	4300	6503	SO:0001583	missense	51663	exon20			CACTATCTCTTCT	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.3157G>A	5.37:g.32355934C>T	ENSP00000265069:p.Asp1053Asn	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	102	34	NM_016107	0	0	122	233	111	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026741	0.54683	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.07327	3.2	5.53	5.53	0.82687	.	0.144296	0.64402	D	0.000009	T	0.19927	0.0479	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.956	T	0.01283	-1.1396	10	0.62326	D	0.03	.	19.4503	0.94863	0.0:1.0:0.0:0.0	rs55686708	1032;1053	B5MEH6;Q96KR1	.;ZFR_HUMAN	N	1053;1032	ENSP00000265069:D1053N	ENSP00000265069:D1053N	D	-	1	0	ZFR	32391691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.604000	0.88044	0.585000	0.79938	GAT	.		0.368	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			T	32355934	C	T	32355934	3	4	62	1	0	0	0	0	1	0	0	0	17707	913	32	3	71	3	ZFR	5	32355934	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	15644899	32355934	148559326	439	12807											
ADAMTS12	81792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	33881505	33881505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgggatagtgcaagcCatatgacaaaaaatgcccac	10	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:33881505C>T	ENST00000504830.1	-	2	543	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G70S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G70S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	70					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCAAGCCATATGACAAA	0.488										HNSCC(64;0.19)																											p.G70S		.											.	ADAMTS12-232	0			c.G208A						.						125	126	126					5																	33881505		2203	4300	6503	SO:0001583	missense	81792	exon2			GCAAGCCATATGA	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.208G>A	5.37:g.33881505C>T	ENSP00000422554:p.Gly70Ser	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	75	33	NM_030955	0	0	3	3	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	7.805	0.714526	0.15306	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.56611	0.45;0.45;2.25	5.51	4.64	0.57946	Peptidase M12B, propeptide (1);	0.683858	0.14288	N	0.329076	T	0.34106	0.0886	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31153	0.112;0.31;0.014	B;B;B	0.31686	0.019;0.134;0.029	T	0.22521	-1.0214	10	0.09843	T	0.71	.	6.6676	0.23050	0.0:0.6949:0.0:0.3051	.	70;70;70	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	S	70	ENSP00000422554:G70S;ENSP00000344847:G70S;ENSP00000421638:G70S	ENSP00000344847:G70S	G	-	1	0	ADAMTS12	33917262	0.967000	0.33354	0.173000	0.22940	0.833000	0.47200	1.478000	0.35442	1.310000	0.45006	0.467000	0.42956	GGC	.		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33881505	C	T	33881505	3	4	62	1	0	0	0	0	1	0	0	0	257	594	21	3	4668	3	ADAMTS12	5	33881505	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1525571	33881505	147033755	440	12808											
BRIX1	55299	ucsc.edu;bcgsc.ca	37	chr5	34915889	34915889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggctttgcagttcagGcgaagaagccaaaaagaaac	13	7	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:34915889G>A	ENST00000336767.5	+	1	409	c.46G>A	c.(46-48)Gcg>Acg	p.A16T	BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000382038.2_5'UTR|RAD1_ENST00000341754.4_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	16				GFAVQAKKPKRNEIDAE -> RLCSSGEEAKKKRNRCG (in Ref. 1; AAL83818). {ECO:0000305}.	ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TGCAGTTCAGGCGAAGAAGCC	0.622																																					p.A16T		.											.	BRIX1-90	0			c.G46A						.						47	52	50					5																	34915889		2192	4291	6483	SO:0001583	missense	55299	exon1			GTTCAGGCGAAGA		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.46G>A	5.37:g.34915889G>A	ENSP00000338862:p.Ala16Thr	Somatic	418	2		WXS	Illumina GAIIx	Phase_I	478	179	NM_018321	0	0	19	42	23	A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935334	0.34189	.	.	ENSG00000113460	ENST00000336767	T	0.45276	0.9	4.91	3.12	0.35913	.	0.604283	0.17720	N	0.164296	T	0.32763	0.0840	L	0.55481	1.735	0.32980	D	0.523558	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.35475	-0.9787	10	0.13470	T	0.59	0.0257	7.7847	0.29085	0.0888:0.3907:0.5205:0.0	.	16;16	B4E0B8;Q8TDN6	.;BRX1_HUMAN	T	16	ENSP00000338862:A16T	ENSP00000338862:A16T	A	+	1	0	BRIX1	34951646	0.243000	0.23878	0.944000	0.38274	0.362000	0.29581	0.789000	0.26886	0.657000	0.30906	0.651000	0.88453	GCG	.		0.622	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		A	34915889	G	A	34915889	3	1	62	1	0	0	0	0	1	0	0	0	1519	1203	42	3	48	3	BRIX1	5	34915889	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1034384	34915889	145999371	441	12809											
SLC1A3	6507	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	36677261	36677261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctcttaacgaagccatcAtgagactggtagcagtaata	8	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:36677261A>G	ENST00000265113.4	+	6	1311	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	SLC1A3_ENST00000381918.3_Missense_Mutation_p.M279V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	279					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGAAGCCATCATGAGACTGGT	0.398																																					p.M279V		.											.	SLC1A3-90	0			c.A835G						.						101	98	99					5																	36677261		2203	4300	6503	SO:0001583	missense	6507	exon6			GCCATCATGAGAC		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.835A>G	5.37:g.36677261A>G	ENSP00000265113:p.Met279Val	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	185	89	NM_004172	0	0	5	11	6	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486999	0.84854	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.60920	0.15;0.15	5.92	5.92	0.95590	.	0.032360	0.85682	D	0.000000	T	0.76371	0.3978	M	0.82323	2.585	0.58432	D	0.999996	P;D	0.65815	0.767;0.995	P;P	0.61722	0.449;0.893	T	0.80388	-0.1403	10	0.87932	D	0	-37.0708	16.3631	0.83280	1.0:0.0:0.0:0.0	.	279;279	Q4JCQ8;P43003	.;EAA1_HUMAN	V	279;227;279	ENSP00000265113:M279V;ENSP00000371343:M279V	ENSP00000265113:M279V	M	+	1	0	SLC1A3	36713018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.332000	0.96446	2.266000	0.75297	0.533000	0.62120	ATG	.		0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		G	36677261	A	G	36677261	3	3	62	1	0	0	0	0	1	0	0	0	14478	217	8	4	870	4	SLC1A3	5	36677261	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1761372	36677261	144237999	442	12810											
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	36953863	36953863	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgctagtctcacagaccGtaagtttggttaatttatct	8	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:36953863G>A	ENST00000282516.8	+	2	563		c.e2+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			CTCACAGACCGTAAGTTTGGT	0.348																																					.		.											.	NIPBL-293	0			c.64+1G>A	GRCh37	CS042837	NIPBL	S		.						109	101	103					5																	36953863		2203	4300	6503	SO:0001630	splice_region_variant	25836	exon2			CAGACCGTAAGTT	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.64+1G>A	5.37:g.36953863G>A		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	66	27	NM_133433	0	0	0	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913095	0.92178	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	36989620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.529000	0.85273	0.655000	0.94253	.	.		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	A	36953863	G	A	36953863	5	1	62	1	0	0	0	0	0	0	1	0	10467	1159	40	1	67	1	NIPBL	5	36953863	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	276602	36953863	143961397	443	12811											
HEATR7B2	133558	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	41000914	41000914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaataagaagatggcagTcaatctcacatcatcctgct	6	11	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:41000914T>C	ENST00000399564.4	-	38	4666	c.4216A>G	c.(4216-4218)Act>Gct	p.T1406A	MROH2B_ENST00000506092.2_Missense_Mutation_p.T961A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1406																	AAGATGGCAGTCAATCTCACA	0.458																																					p.T1406A		.											.	.	0			c.A4216G						.						59	60	60					5																	41000914		2089	4229	6318	SO:0001583	missense	133558	exon38			TGGCAGTCAATCT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4216A>G	5.37:g.41000914T>C	ENSP00000382476:p.Thr1406Ala	Somatic	139	1		WXS	Illumina GAIIx	Phase_I	124	48	NM_173489	0	0	0	1	1	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569642	0.28003	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.61980	0.06;0.06	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.197228	0.36167	N	0.002742	T	0.37517	0.1006	N	0.08118	0	0.34040	D	0.6549	P	0.36086	0.536	B	0.36608	0.229	T	0.50268	-0.8848	10	0.02654	T	1	.	12.4199	0.55514	0.0:0.0:0.0:1.0	.	1406	Q7Z745	HTRB2_HUMAN	A	961;1111;1406	ENSP00000441504:T961A;ENSP00000382476:T1406A	ENSP00000296803:T1111A	T	-	1	0	HEATR7B2	41036671	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.627000	0.37050	2.246000	0.74042	0.533000	0.62120	ACT	.		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		C	41000914	T	C	41000914	3	2	62	1	0	0	0	0	1	0	0	0	7062	1667	58	4	561	4	HEATR7B2	5	41000914	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4047051	41000914	139914346	444	12812											
OXCT1	5019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	41739509	41739509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaaaatcacacccagTactcttctgtacgtcatcca	4	14	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:41739509T>C	ENST00000196371.5	-	16	1664	c.1504A>G	c.(1504-1506)Act>Gct	p.T502A	OXCT1_ENST00000509987.1_Missense_Mutation_p.T316A|OXCT1_ENST00000512084.1_Missense_Mutation_p.T105A|OXCT1_ENST00000510634.1_Missense_Mutation_p.T105A	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	502					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCACACCCAGTACTCTTCTGT	0.433																																					p.T502A		.											.	OXCT1-133	0			c.A1504G						.						148	133	138					5																	41739509		2203	4300	6503	SO:0001583	missense	5019	exon16			ACCCAGTACTCTT	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1504A>G	5.37:g.41739509T>C	ENSP00000196371:p.Thr502Ala	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	121	48	NM_000436	0	0	0	4	4	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524611	0.64747	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	6.16	6.16	0.99307	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98821	1.0747	10	0.87932	D	0	-23.3829	15.7887	0.78332	0.0:0.0:0.0:1.0	.	502	P55809	SCOT1_HUMAN	A	502;105;105;316	ENSP00000196371:T502A;ENSP00000421143:T105A;ENSP00000423144:T105A;ENSP00000425348:T316A	ENSP00000196371:T502A	T	-	1	0	OXCT1	41775266	1.000000	0.71417	0.999000	0.59377	0.381000	0.30169	6.136000	0.71703	2.367000	0.80283	0.528000	0.53228	ACT	.		0.433	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		C	41739509	T	C	41739509	3	2	62	1	0	0	0	0	1	0	0	0	11368	1638	57	4	66	4	OXCT1	5	41739509	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	738595	41739509	139175751	445	12813											
PAIP1	10605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	43539100	43539100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtaacttcatccccttTtgcagcttgatctttaactt	5	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43539100T>C	ENST00000306846.3	-	5	1004	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E	PAIP1_ENST00000436644.2_Missense_Mutation_p.K179E|PAIP1_ENST00000338972.4_Missense_Mutation_p.K146E|PAIP1_ENST00000514514.1_Missense_Mutation_p.K179E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	258	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCATCCCCTTTTGCAGCTTGA	0.318																																					p.K258E		.											.	PAIP1-69	0			c.A772G						.						147	140	142					5																	43539100		2203	4300	6503	SO:0001583	missense	10605	exon5			CCCCTTTTGCAGC	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.772A>G	5.37:g.43539100T>C	ENSP00000302768:p.Lys258Glu	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	56	27	NM_006451	0	0	93	167	74	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317585	0.81469	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.98	5.98	0.97165	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.098134	0.64402	D	0.000001	T	0.23410	0.0566	L	0.39020	1.185	0.45515	D	0.998474	P;P;P	0.45078	0.85;0.816;0.637	B;P;B	0.45506	0.427;0.483;0.17	T	0.01195	-1.1422	10	0.27082	T	0.32	-26.6322	16.4728	0.84119	0.0:0.0:0.0:1.0	.	179;258;179	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	E	258;179;146;179;146;146	ENSP00000302768:K258E;ENSP00000387729:K179E;ENSP00000339622:K146E;ENSP00000425084:K179E;ENSP00000425675:K146E;ENSP00000425736:K146E	ENSP00000302768:K258E	K	-	1	0	PAIP1	43574857	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.904000	0.48719	2.296000	0.77279	0.482000	0.46254	AAA	.		0.318	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		C	43539100	T	C	43539100	3	2	62	1	0	0	0	0	1	0	0	0	11435	1850	64	4	695	4	PAIP1	5	43539100	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1799591	43539100	137376160	446	12814											
PAIP1	10605	broad.mit.edu;mdanderson.org	37	chr5	43556100	43556100	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcaggggcctcgtttgCtctgcaaaagaaaaaaaaac	9	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43556100C>T	ENST00000306846.3	-	2	499	c.267G>A	c.(265-267)gaG>gaA	p.E89E	PAIP1_ENST00000436644.2_Splice_Site_p.E10E|PAIP1_ENST00000338972.4_5'UTR|PAIP1_ENST00000514514.1_Splice_Site_p.E10E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	89	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GCCTCGTTTGCTCTGCAAAAG	0.463																																					p.E89E		.											.	PAIP1-69	0			c.G267A						.						82	92	89					5																	43556100		2203	4300	6503	SO:0001630	splice_region_variant	10605	exon2			CGTTTGCTCTGCA	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.266-1G>A	5.37:g.43556100C>T		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	48	15	NM_006451	0	0	0	0	0	A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	CCDS3947.1																																																																																			.		0.463	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	Silent	T	43556100	C	T	43556100	5	4	62	1	0	0	0	0	0	0	1	0	11435	811	28	3	1212	3	PAIP1	5	43556100	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	17000	43556100	137359160	447	12815											
NNT	23530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	43619202	43619203	+	Frame_Shift_Ins	INS	-	-	A													ggtcagatcacagctgctggINSaaaagttcctccagctaagg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43619202_43619203insA	ENST00000264663.5	+	5	889_890	c.668_669insA	c.(667-672)ggaaaafs	p.GK223fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.GK223fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.GK92fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	223					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)					ACAGCTGCTGGAAAAGTTCCTC	0.287																																					p.G223fs		.											.	NNT-92	0			c.668_669insA						.																																			SO:0001589	frameshift_variant	23530	exon5			CTGCTGGAAAAGT	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.672dupA	5.37:g.43619206_43619206dupA	ENSP00000264663:p.Gly223fs	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	27	10	NM_012343	0	0	0	0	0	Q16796|Q2TB60|Q8N3V4	Frame_Shift_Ins	INS	ENST00000264663.5	37	CCDS3949.1																																																																																			.		0.287	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43619203	-	A	43619202	7	5	62	1	0	1	1	0	0	0	0	0	10549	1174	41	0	682	0	NNT	5	43619202	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	63102	43619202	137296058	448	12816											
PELO	53918	hgsc.bcm.edu;broad.mit.edu	37	chr5	52096425	52096426	+	Frame_Shift_Del	DEL	CT	CT	-													ccgggtccgcactaccctcaCtctctgcgtggaggccatcg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:52096425_52096426delCT	ENST00000274311.2	+	2	1182_1183	c.197_198delCT	c.(196-198)actfs	p.T66fs	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	66					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACTACCCTCACTCTCTGCGTGG	0.619																																					p.66_66del		.											.	PELO-44	0			c.197_198del						.																																			SO:0001589	frameshift_variant	53918	exon2			CCCTCACTCTCTG		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.197_198delCT	5.37:g.52096429_52096430delCT	ENSP00000274311:p.Thr66fs	Somatic	234	0		WXS	Illumina GAIIx	Phase_I	260	14	NM_015946	0	0	0	0	0	Q9GZS6|Q9Y306	Frame_Shift_Del	DEL	ENST00000274311.2	37	CCDS3956.1																																																																																			.		0.619	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		-	52096426	CT	-	52096425	7	5	62	1	0	1	0	1	0	0	0	0	11763	565	20	0	199	0	PELO	5	52096425	Frame_Shift_Del	DEL	CT	TCGA-PK-A5HB-01A-11D-A29I-10	8477223	52096425	128818835	449	12817											
C5orf35	133383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56207218	56207218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagacatcaacagcaAagtacctttaaaccagaaga	6	9	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:56207218A>G	ENST00000285947.2	+	2	707	c.321A>G	c.(319-321)caA>caG	p.Q107Q	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Silent_p.Q107Q|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	107							methyltransferase activity (GO:0008168)										ATCAACAGCAAAGTACCTTTA	0.388																																					p.Q107Q		.											.	.	0			c.A321G						.						72	70	71					5																	56207218		2203	4300	6503	SO:0001819	synonymous_variant	133383	exon2			ACAGCAAAGTACC	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.321A>G	5.37:g.56207218A>G		Somatic	66	0		WXS	Illumina GAIIx	Phase_I	74	31	NM_153706	0	0	0	4	4	F5H713	Silent	SNP	ENST00000285947.2	37	CCDS3972.1																																																																																			.		0.388	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		G	56207218	A	G	56207218	2	3	62	1	0	0	0	0	0	0	0	1	2301	11	1	4		4	C5orf35	5	56207218	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4110793	56207218	124708042	450	12818											
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56234785	56234785	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcactggaatttgcaactgcTggaattgtaggttcatagcc	11	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:56234785T>A	ENST00000381199.3	-	4	250	c.240A>T	c.(238-240)ccA>ccT	p.P80P	MIER3_ENST00000409421.1_Silent_p.P17P|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000381213.3_Silent_p.P80P|MIER3_ENST00000381226.3_Silent_p.P85P			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTGCAACTGCTGGAATTGTAG	0.433																																					p.P80P		.											.	MIER3-90	0			c.A240T						.						168	159	162					5																	56234785		2203	4300	6503	SO:0001819	synonymous_variant	166968	exon4			AACTGCTGGAATT	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.240A>T	5.37:g.56234785T>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	114	38	NM_152622	0	0	5	9	4	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Silent	SNP	ENST00000381199.3	37																																																																																				.		0.433	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		A	56234785	T	A	56234785	2	1	62	1	0	0	0	0	0	0	0	1	9620	1567	55	5		5	MIER3	5	56234785	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	27567	56234785	124680475	451	12819											
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	65058794	65058794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccatctgcagtggaaagGaccatgctagactttcccca	8	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:65058794G>A	ENST00000380985.5	+	3	487	c.309G>A	c.(307-309)agG>agA	p.R103R	NLN_ENST00000502464.1_5'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	103						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAGTGGAAAGGACCATGCTAG	0.413																																					p.R103R		.											.	NLN-90	0			c.G309A						.						118	109	112					5																	65058794		2203	4300	6503	SO:0001819	synonymous_variant	57486	exon3			GGAAAGGACCATG	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.309G>A	5.37:g.65058794G>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	115	50	NM_020726	0	0	0	0	0	Q9ULJ4	Silent	SNP	ENST00000380985.5	37	CCDS3989.1																																																																																			.		0.413	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			A	65058794	G	A	65058794	2	1	62	1	0	0	0	0	0	0	0	1	10506	1165	41	3		3	NLN	5	65058794	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8824009	65058794	115856466	452	12820											
SLC30A5	64924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	68412226	68412226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctctttgtagctgccAatatcttatcatctccctct	3	12	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:68412226A>G	ENST00000396591.3	+	10	1688	c.1078A>G	c.(1078-1080)Aat>Gat	p.N360D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	360					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)		TGTAGCTGCCAATATCTTATC	0.368																																					p.N360D		.											.	SLC30A5-226	0			c.A1078G						.						71	77	75					5																	68412226		2203	4300	6503	SO:0001583	missense	64924	exon10			GCTGCCAATATCT	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.1078A>G	5.37:g.68412226A>G	ENSP00000379836:p.Asn360Asp	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	66	28	NM_022902	0	0	0	0	0	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	8.289	0.817374	0.16607	.	.	ENSG00000145740	ENST00000396591	T	0.63417	-0.04	5.58	4.42	0.53409	.	0.161727	0.64402	N	0.000002	T	0.41650	0.1168	N	0.25647	0.755	0.80722	D	1	B;B;B	0.28233	0.204;0.013;0.204	B;B;B	0.24006	0.05;0.008;0.046	T	0.17137	-1.0379	10	0.11182	T	0.66	.	7.4037	0.26979	0.7833:0.1434:0.0733:0.0	.	189;189;360	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	D	360	ENSP00000379836:N360D	ENSP00000379836:N360D	N	+	1	0	SLC30A5	68447982	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.048000	0.76606	1.063000	0.40649	0.533000	0.62120	AAT	.		0.368	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			G	68412226	A	G	68412226	3	3	62	1	0	0	0	0	1	0	0	0	14603	130	5	4	1204	4	SLC30A5	5	68412226	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3353432	68412226	112503034	453	12821											
COL4A3BP	51426	hgsc.bcm.edu;bcgsc.ca	37	chr5	74807619	74807621	+	5'UTR	DEL	AGG	AGG	-													gtgacgacgggtagaaaagcAggaggagcggagaaaggaga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGG	AGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:74807619_74807621delAGG	ENST00000241436.4	+	0	39_41				COL4A3BP_ENST00000261415.7_5'Flank|POLK_ENST00000352007.5_5'Flank|COL4A3BP_ENST00000380494.5_In_Frame_Del_p.P17del|COL4A3BP_ENST00000405807.4_5'Flank	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAGAAAAGCAGGAGGAGCGGAG	0.67								DNA polymerases (catalytic subunits)																													p.17_17del		.											.	COL4A3BP-226	0			c.49_51del						.																																			SO:0001623	5_prime_UTR_variant	10087	exon1			AAAAGCAGGAGGA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.-132AGG>-	5.37:g.74807622_74807624delAGG		Somatic	120	1		WXS	Illumina GAIIx	Phase_I	130	53	NM_001130105	0	0	0	0	0	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	In_Frame_Del	DEL	ENST00000241436.4	37	CCDS4030.1																																																																																			.		0.67	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		-	74807621	AGG	-	74807619	6	5	62	0	1	1	0	1	0	0	0	0	3699	175	7	0		0	COL4A3BP	5	74807619	5'UTR	DEL	AGG	TCGA-PK-A5HB-01A-11D-A29I-10	6395393	74807619	106107641	454	12822											
POLK	51426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	74869656	74869656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaacttataatagtgCcccccaactttgacaaatac	4	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:74869656C>T	ENST00000241436.4	+	5	674	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	POLK_ENST00000380481.3_Missense_Mutation_p.P78S|POLK_ENST00000508526.1_Missense_Mutation_p.P168S|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.P168S|POLK_ENST00000515295.1_Missense_Mutation_p.P168S|POLK_ENST00000504026.1_Missense_Mutation_p.P168S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	168	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TATAATAGTGCCCCCCAACTT	0.443								DNA polymerases (catalytic subunits)																													p.P168S		.											.	POLK-229	0			c.C502T						.						126	120	122					5																	74869656		2203	4299	6502	SO:0001583	missense	51426	exon5			ATAGTGCCCCCCA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.502C>T	5.37:g.74869656C>T	ENSP00000241436:p.Pro168Ser	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	160	78	NM_016218	0	0	15	20	5	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353570	0.82243	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.01	4.15	0.48705	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.046651	0.85682	D	0.000000	T	0.79736	0.4497	L	0.60904	1.88	0.80722	D	1	P;P;D;D	0.69078	0.923;0.835;0.981;0.997	P;P;D;D	0.74023	0.67;0.644;0.923;0.982	T	0.80246	-0.1462	10	0.66056	D	0.02	-6.663	12.7472	0.57287	0.0:0.8161:0.1183:0.0656	.	168;168;168;168	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	S	168;168;168;168;168;78	ENSP00000241436:P168S;ENSP00000342256:P168S;ENSP00000424174:P168S;ENSP00000425075:P168S;ENSP00000426853:P168S;ENSP00000369848:P78S	ENSP00000241436:P168S	P	+	1	0	POLK	74905412	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.004000	0.57068	2.850000	0.98022	0.655000	0.94253	CCC	.		0.443	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		T	74869656	C	T	74869656	3	4	62	1	0	0	0	0	1	0	0	0	12243	739	26	3	516	3	POLK	5	74869656	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	62037	74869656	106045604	455	12823											
IQGAP2	10788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	75896750	75896750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagaatcaactcagAagccccgcaataggcttaaa	8	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:75896750A>C	ENST00000274364.6	+	11	1482	c.1185A>C	c.(1183-1185)agA>agC	p.R395S	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	395					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)		ATCAACTCAGAAGCCCCGCAA	0.438																																					p.R395S		.											.	IQGAP2-96	0			c.A1185C						.						119	108	112					5																	75896750		2203	4300	6503	SO:0001583	missense	10788	exon11			ACTCAGAAGCCCC	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.1185A>C	5.37:g.75896750A>C	ENSP00000274364:p.Arg395Ser	Somatic	127	2		WXS	Illumina GAIIx	Phase_I	177	87	NM_006633	0	0	1	1	0	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	7.102	0.574226	0.13623	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.04360	3.64;3.64;3.64	5.31	1.5	0.22942	.	0.407840	0.25391	N	0.031001	T	0.02610	0.0079	N	0.20401	0.57	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47774	-0.9091	10	0.09338	T	0.73	-21.9144	6.1892	0.20513	0.4625:0.3902:0.1473:0.0	.	395	Q13576	IQGA2_HUMAN	S	395;368;345	ENSP00000274364:R395S;ENSP00000423672:R368S;ENSP00000421097:R345S	ENSP00000274364:R395S	R	+	3	2	IQGAP2	75932506	0.346000	0.24844	1.000000	0.80357	0.997000	0.91878	0.619000	0.24388	0.084000	0.17077	0.460000	0.39030	AGA	.		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		C	75896750	A	C	75896750	3	2	62	1	0	0	0	0	1	0	0	0	7842	243	9	5	1227	5	IQGAP2	5	75896750	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1027094	75896750	105018510	456	12824											
VCAN	1462	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	82816109	82816109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccttattctggtgatAaaatattagtagagggaatt	9	3	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:82816109A>G	ENST00000265077.3	+	7	2549	c.1984A>G	c.(1984-1986)Aaa>Gaa	p.K662E	VCAN_ENST00000512590.2_Missense_Mutation_p.K614E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.K662E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	662	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTCTGGTGATAAAATATTAGT	0.353																																					p.K662E		.											.	VCAN-238	0			c.A1984G						.						78	79	79					5																	82816109		2203	4299	6502	SO:0001583	missense	1462	exon7			GGTGATAAAATAT	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1984A>G	5.37:g.82816109A>G	ENSP00000265077:p.Lys662Glu	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	66	26	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217579	0.22373	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.23950	1.88;1.88;1.88	5.81	-1.15	0.09709	.	0.299914	0.28971	N	0.013543	T	0.16128	0.0388	L	0.60455	1.87	0.09310	N	1	B;P	0.35844	0.4;0.524	B;B	0.33960	0.173;0.138	T	0.13737	-1.0498	10	0.19590	T	0.45	.	2.2074	0.03939	0.2632:0.3678:0.2578:0.1111	.	662;662	P13611-3;P13611	.;CSPG2_HUMAN	E	662;662;614	ENSP00000265077:K662E;ENSP00000342768:K662E;ENSP00000425959:K614E	ENSP00000265077:K662E	K	+	1	0	VCAN	82851865	0.000000	0.05858	0.428000	0.26697	0.989000	0.77384	0.365000	0.20348	-0.137000	0.11455	0.533000	0.62120	AAA	.		0.353	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82816109	A	G	82816109	3	3	62	1	0	0	0	0	1	0	0	0	17187	363	13	4	2006	4	VCAN	5	82816109	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	6919359	82816109	98099151	457	12825											
CETN3	1070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	89703515	89703515	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttaaagtataccattaCctttaattcatgataatcta	2	6	2	1	rs143515805		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:89703515C>T	ENST00000283122.3	-	2	278		c.e2+1		CETN3_ENST00000522842.1_Splice_Site|CETN3_ENST00000522565.1_Splice_Site|CETN3_ENST00000522083.1_Splice_Site|CETN3_ENST00000522864.1_Splice_Site	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3						centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TATACCATTACCTTTAATTCA	0.254																																					.		.											.	CETN3-90	0			c.153+1G>A						.						82	81	81					5																	89703515		2198	4287	6485	SO:0001630	splice_region_variant	1070	exon3			CCATTACCTTTAA	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"EF-hand domain containing"	1868	protein-coding gene	gene with protein product	"CDC31 yeast homolog", "EF-hand superfamily member"	602907	"centrin, EF-hand protein, 3 (CDC31 yeast homolog)"			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.153+1G>A	5.37:g.89703515C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	91	36	NM_004365	0	0	0	0	0	Q53YD2|Q9BS23	Splice_Site	SNP	ENST00000283122.3	37	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888322	0.72524	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.712	0.91661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CETN3	89739271	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.591000	0.82666	2.649000	0.89929	0.561000	0.74099	.	C|1.000;G|0.000		0.254	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365	Intron	T	89703515	C	T	89703515	5	4	62	1	0	0	0	0	0	0	1	0	3283	521	18	3	365	3	CETN3	5	89703515	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6887406	89703515	91211745	458	12826											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	89990218	89990218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaagttcacctcatgAacatttcagccagtttgaaa	6	10	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:89990218A>G	ENST00000405460.2	+	33	7741	c.7645A>G	c.(7645-7647)Aac>Gac	p.N2549D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2549					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)		TCACCTCATGAACATTTCAGC	0.393																																					p.N2549D		.											.	GPR98-103	0			c.A7645G						.						150	141	144					5																	89990218		1857	4107	5964	SO:0001583	missense	84059	exon33			CTCATGAACATTT	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.7645A>G	5.37:g.89990218A>G	ENSP00000384582:p.Asn2549Asp	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	146	68	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.88|19.88	3.909126|3.909126	0.72868|0.72868	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34859|.	1.34|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73297|.	0.3569|.	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.979|.	T|.	0.72374|.	-0.4313|.	10|.	0.59425|.	D|.	0.04|.	.|.	16.2879|16.2879	0.82732|0.82732	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2549;2549|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|W	2549|114	ENSP00000384582:N2549D|.	ENSP00000296619:N2549D|.	N|X	+|+	1|3	0|0	GPR98|GPR98	90025974|90025974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.248000|7.248000	0.78268|0.78268	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	AAC|TGA	.		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89990218	A	G	89990218	3	3	62	1	0	0	0	0	1	0	0	0	6748	246	9	4	7775	4	GPR98	5	89990218	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	286703	89990218	90925042	459	12827											
NR2F1	7025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	92923842	92923842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccgcgcgcctgctctTcagcgccgtcgagtgggccc	15	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:92923842T>C	ENST00000327111.3	+	2	2370	c.683T>C	c.(682-684)tTc>tCc	p.F228S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	228					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CGCCTGCTCTTCAGCGCCGTC	0.647																																					p.F228S		.											.	NR2F1-227	0			c.T683C						.						78	77	77					5																	92923842		2203	4300	6503	SO:0001583	missense	7025	exon2			TGCTCTTCAGCGC	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.683T>C	5.37:g.92923842T>C	ENSP00000325819:p.Phe228Ser	Somatic	153	0		WXS	Illumina GAIIx	Phase_I	294	122	NM_005654	0	0	4	7	3		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076288	0.76415	.	.	ENSG00000175745	ENST00000327111	T	0.54279	0.58	4.47	4.47	0.54385	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.93638	3.44	0.80722	D	1	D	0.60575	0.988	D	0.62955	0.909	D	0.83905	0.0292	10	0.87932	D	0	.	13.8968	0.63778	0.0:0.0:0.0:1.0	.	228	P10589	COT1_HUMAN	S	228	ENSP00000325819:F228S	ENSP00000325819:F228S	F	+	2	0	NR2F1	92949598	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.808000	0.86044	1.857000	0.53885	0.334000	0.21626	TTC	.		0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		C	92923842	T	C	92923842	3	2	62	1	0	0	0	0	1	0	0	0	10666	1783	62	4	689	4	NR2F1	5	92923842	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2933624	92923842	87991418	460	12828											
C5orf36	285600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	93807267	93807267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaagtttttcaggggtGctttggaaggaacctccttg	13	7	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:93807267G>A	ENST00000513200.3	-	8	1697	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	KIAA0825_ENST00000312498.7_Missense_Mutation_p.A542V|KIAA0825_ENST00000427991.2_Missense_Mutation_p.A542V	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTCAGGGGTGCTTTGGAAGG	0.448																																					p.A542V		.											.	KIAA0825-91	0			c.C1625T						.						217	186	195					5																	93807267		692	1591	2283	SO:0001583	missense	285600	exon9			AGGGGTGCTTTGG	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.1625C>T	5.37:g.93807267G>A	ENSP00000424618:p.Ala542Val	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	113	50	NM_001145678	0	0	0	0	0	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	37		.	.	.	.	.	.	.	.	.	.	G	12.73	2.025753	0.35701	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.59502	0.26;0.26;0.28	5.51	4.63	0.57726	.	0.078660	0.49305	D	0.000160	T	0.54287	0.1849	L	0.52364	1.645	0.40723	D	0.982679	P	0.49358	0.923	B	0.42771	0.397	T	0.61103	-0.7130	10	0.52906	T	0.07	.	15.2448	0.73499	0.0709:0.0:0.9291:0.0	.	542	Q8IV33	K0825_HUMAN	V	542	ENSP00000424618:A542V;ENSP00000400288:A542V;ENSP00000312205:A542V	ENSP00000312205:A542V	A	-	2	0	KIAA0825	93833023	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.790000	0.69038	2.738000	0.93877	0.655000	0.94253	GCA	.		0.448	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665		A	93807267	G	A	93807267	3	1	62	1	0	0	0	0	1	0	0	0	2302	1319	46	3	2254	3	C5orf36	5	93807267	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	883425	93807267	87107993	461	12829											
ERAP1	51752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	96117463	96117463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttggcttttctcagtactgGacaaagaaaactgatattta	7	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96117463G>C	ENST00000443439.2	-	16	2447	c.2381C>G	c.(2380-2382)tCc>tGc	p.S794C	ERAP1_ENST00000514604.1_5'UTR|ERAP1_ENST00000296754.3_Missense_Mutation_p.S794C	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	794					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTCAGTACTGGACAAAGAAAA	0.448																																					p.S794C		.											.	ERAP1-70	0			c.C2381G						.						120	125	123					5																	96117463		2203	4300	6503	SO:0001583	missense	51752	exon16			GTACTGGACAAAG	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2381C>G	5.37:g.96117463G>C	ENSP00000406304:p.Ser794Cys	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	60	21	NM_001198541	0	0	4	7	3	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008907	0.35415	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.08634	3.07;3.07	6.16	6.16	0.99307	.	0.302670	0.39146	N	0.001451	T	0.11281	0.0275	M	0.65975	2.015	0.33920	D	0.640798	B;B;B	0.30584	0.286;0.208;0.173	B;B;B	0.26310	0.068;0.068;0.055	T	0.05801	-1.0863	10	0.38643	T	0.18	.	12.0424	0.53460	0.1065:0.0:0.8935:0.0	.	794;794;794	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	C	794	ENSP00000296754:S794C;ENSP00000406304:S794C	ENSP00000296754:S794C	S	-	2	0	ERAP1	96143219	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	3.483000	0.53194	2.937000	0.99478	0.650000	0.86243	TCC	.		0.448	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		C	96117463	G	C	96117463	3	2	62	1	0	0	0	0	1	0	0	0	5219	1174	41	3	493	3	ERAP1	5	96117463	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2310196	96117463	84797797	462	12830											
LNPEP	4012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	96315242	96315242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacctttaccaaagaaggCtgccataaaaaaaaccagtc	6	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96315242C>T	ENST00000231368.5	+	2	1112	c.420C>T	c.(418-420)ggC>ggT	p.G140G	LNPEP_ENST00000395770.3_Silent_p.G126G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	140					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCAAAGAAGGCTGCCATAAAA	0.448																																					p.G140G		.											.	LNPEP-229	0			c.C420T						.						75	77	76					5																	96315242		2203	4300	6503	SO:0001819	synonymous_variant	4012	exon2			AGAAGGCTGCCAT	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.420C>T	5.37:g.96315242C>T		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	158	64	NM_005575	0	0	1	2	1	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1																																																																																			.		0.448	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96315242	C	T	96315242	2	4	62	1	0	0	0	0	0	0	0	1	8894	784	28	3		3	LNPEP	5	96315242	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	197779	96315242	84600018	463	12831											
LNPEP	4012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	96315342	96315342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcccactgccgttgtgCcactacgctatgaactcagc	9	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96315342C>T	ENST00000231368.5	+	2	1212	c.520C>T	c.(520-522)Cca>Tca	p.P174S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P160S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	174					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGCCGTTGTGCCACTACGCTA	0.458																																					p.P174S		.											.	LNPEP-229	0			c.C520T						.						104	100	101					5																	96315342		2203	4300	6503	SO:0001583	missense	4012	exon2			GTTGTGCCACTAC	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.520C>T	5.37:g.96315342C>T	ENSP00000231368:p.Pro174Ser	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	101	47	NM_005575	0	0	4	8	4	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254976	0.59321	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05786	3.39;3.39	5.63	5.63	0.86233	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.107172	0.64402	D	0.000004	T	0.41073	0.1143	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57590	-0.7785	10	0.87932	D	0	.	19.6478	0.95789	0.0:1.0:0.0:0.0	.	174	Q9UIQ6	LCAP_HUMAN	S	174;160	ENSP00000231368:P174S;ENSP00000379117:P160S	ENSP00000231368:P174S	P	+	1	0	LNPEP	96341098	1.000000	0.71417	0.256000	0.24389	0.159000	0.22180	7.252000	0.78309	2.814000	0.96858	0.591000	0.81541	CCA	.		0.458	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96315342	C	T	96315342	3	4	62	1	0	0	0	0	1	0	0	0	8894	739	26	3	526	3	LNPEP	5	96315342	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	100	96315342	84599918	464	12832											
SLCO4C1	353189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	101631819	101631819	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggggctcctggggcttctGaagctcctgtggctgagaat	15	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:101631819G>A	ENST00000310954.6	-	1	434	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		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)		TGGGGCTTCTGAAGCTCCTGT	0.592																																					p.Q50X		.											.	SLCO4C1-93	0			c.C148T						.						58	63	61					5																	101631819		2203	4300	6503	SO:0001587	stop_gained	353189	exon1			GCTTCTGAAGCTC	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.148C>T	5.37:g.101631819G>A	ENSP00000309741:p.Gln50*	Somatic	34	1		WXS	Illumina GAIIx	Phase_I	47	20	NM_180991	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611945	0.96637	.	.	ENSG00000173930	ENST00000310954	.	.	.	1.11	1.11	0.20524	.	2.417310	0.01818	N	0.033885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	5.5807	0.17248	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000309741:Q50X	Q	-	1	0	SLCO4C1	101659718	0.003000	0.15002	0.004000	0.12327	0.465000	0.32709	1.080000	0.30779	0.894000	0.36317	0.313000	0.20887	CAG	.		0.592	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101631819	G	A	101631819	4	1	62	1	0	0	0	0	0	1	0	0	14775	1299	45	3	2078	3	SLCO4C1	5	101631819	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5316477	101631819	79283441	465	12833											
PAM	5066	hgsc.bcm.edu;bcgsc.ca	37	chr5	102340902	102340903	+	Frame_Shift_Ins	INS	-	-	T													atagataaagatgggaattaINSttgggtcacagacgtggctc					rs567991627		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:102340902_102340903insT	ENST00000438793.3	+	17	2245_2246	c.1775_1776insT	c.(1774-1779)tattggfs	p.W593fs	PAM_ENST00000455264.2_Frame_Shift_Ins_p.W593fs|PAM_ENST00000348126.2_Frame_Shift_Ins_p.W486fs|PAM_ENST00000304400.7_Frame_Shift_Ins_p.W593fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Frame_Shift_Ins_p.W593fs|PAM_ENST00000274392.9_Frame_Shift_Ins_p.W496fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	593	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATGGGAATTATTGGGTCACAG	0.361																																					p.Y592fs		.											.	PAM-68	0			c.1775_1776insT						.																																			SO:0001589	frameshift_variant	5066	exon17			GGAATTATTGGGT	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1777dupT	5.37:g.102340904_102340904dupT	ENSP00000396493:p.Trp593fs	Somatic	270	1		WXS	Illumina GAIIx	Phase_I	351	114	NM_001177306	0	0	0	0	0	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Ins	INS	ENST00000438793.3	37	CCDS54885.1																																																																																			.		0.361	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		T	102340903	-	T	102340902	7	5	62	1	0	1	1	0	0	0	0	0	11451	449	16	0	1841	0	PAM	5	102340902	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	709083	102340902	78574358	466	12834											
APC	324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	112178919	112178919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagacttccaatcaataGgtcaggaacctggaaacgtg	9	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:112178919G>A	ENST00000457016.1	+	16	8008	c.7628G>A	c.(7627-7629)aGg>aAg	p.R2543K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.R2543K|APC_ENST00000257430.4_Missense_Mutation_p.R2543K			P25054	APC_HUMAN	adenomatous polyposis coli	2543	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAATCAATAGGTCAGGAACC	0.433		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.R2543K	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-12026	1	Unknown(1)	skin(1)	c.G7628A						.						87	84	85					5																	112178919		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,	TCAATAGGTCAGG	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.7628G>A	5.37:g.112178919G>A	ENSP00000413133:p.Arg2543Lys	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	146	59	NM_001127510	0	0	20	31	11	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064249	0.76187	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83673	-1.75;-1.75;-1.75	6.07	6.07	0.98685	Adenomatous polyposis coli protein basic domain (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.63046	0.992;0.992	D;D	0.76071	0.987;0.987	D	0.87312	0.2312	9	.	.	.	-16.0194	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2545;2543	Q4LE70;P25054	.;APC_HUMAN	K	2543	ENSP00000413133:R2543K;ENSP00000257430:R2543K;ENSP00000427089:R2543K	.	R	+	2	0	APC	112206818	1.000000	0.71417	0.989000	0.46669	0.895000	0.52256	8.993000	0.93524	2.884000	0.98904	0.655000	0.94253	AGG	.		0.433	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112178919	G	A	112178919	3	1	62	1	0	0	0	0	1	0	0	0	763	1000	35	3	7686	3	APC	5	112178919	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9838017	112178919	68736341	467	12835											
AQPEP	206338	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	115320392	115320392	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaccacgtcaacagaacaGaaaggggcaaggaggtgagt	14	7	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115320392G>A	ENST00000357872.4	+	3	1088	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		322						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CAACAGAACAGAAAGGGGCAA	0.443																																					p.E322K		.											.	.	0			c.G964A						.						92	72	79					5																	115320392		2202	4300	6502	SO:0001583	missense	0	exon3			AGAACAGAAAGGG																												ENST00000357872.4:c.964G>A	5.37:g.115320392G>A	ENSP00000350541:p.Glu322Lys	Somatic	173	2		WXS	Illumina GAIIx	Phase_I	193	88	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017933	0.35606	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02552	4.25	4.93	4.93	0.64822	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000006	T	0.06826	0.0174	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.56860	-0.7909	10	0.10111	T	0.7	.	17.274	0.87110	0.0:0.0:1.0:0.0	.	322	Q6Q4G3	AMPQ_HUMAN	K	322;311	ENSP00000350541:E322K	ENSP00000350541:E322K	E	+	1	0	AC010282.1	115348291	1.000000	0.71417	0.651000	0.29564	0.279000	0.26890	5.253000	0.65452	2.449000	0.82847	0.557000	0.71058	GAA	.		0.443	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115320392	G	A	115320392	3	1	62	1	0	0	0	0	1	0	0	0	834	943	33	3	974	3	AQPEP	5	115320392	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3141473	115320392	65594868	468	12836											
SEMA6A	57556	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	115782363	115782363	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggggagcaaaggatggTttggggggtacgtccggctt	19	5	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115782363T>C	ENST00000343348.6	-	19	3826	c.3039A>G	c.(3037-3039)aaA>aaG	p.K1013K	SEMA6A_ENST00000503865.1_Silent_p.K392K|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.K490K|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.K1013K|SEMA6A_ENST00000257414.8_Silent_p.K1030K|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.K440K|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	1013					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)		CAAAGGATGGTTTGGGGGGTA	0.602																																					p.K1013K		.											.	SEMA6A-92	0			c.A3039G						.						28	31	30					5																	115782363		2076	4214	6290	SO:0001819	synonymous_variant	57556	exon19			GGATGGTTTGGGG	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.3039A>G	5.37:g.115782363T>C		Somatic	113	1		WXS	Illumina GAIIx	Phase_I	123	61	NM_020796	0	0	17	40	23	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	3.202	-0.163408	0.06502	.	.	ENSG00000092421	ENST00000515129	.	.	.	4.36	1.95	0.26073	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	.	7.6995	0.28615	0.0:0.2592:0.0:0.7408	.	.	.	.	S	528	.	.	N	-	2	0	SEMA6A	115810262	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	1.233000	0.32648	0.236000	0.21180	0.379000	0.24179	AAC	.		0.602	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115782363	T	C	115782363	2	2	62	1	0	0	0	0	0	0	0	1	14084	1722	60	4		4	SEMA6A	5	115782363	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	461971	115782363	65132897	469	12837											
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	115815886	115815886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatccatgagcgggtgCgtcttgatgaagttcagggt	14	9	3	3	rs369918649		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115815886C>T	ENST00000343348.6	-	12	1969	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T|SEMA6A_ENST00000257414.8_Silent_p.T394T|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	394	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)	p.T394T(1)		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)		TGAGCGGGTGCGTCTTGATGA	0.498																																					p.T394T		.											.	SEMA6A-92	1	Substitution - coding silent(1)	large_intestine(1)	c.G1182A						.	C		0,3958		0,0,1979	135	132	133		1182	-4.6	1	5		133	1,8347		0,1,4173	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6152	TT,TC,CC		0.012,0.0,0.0081		394/1031	115815886	1,12305	1979	4174	6153	SO:0001819	synonymous_variant	57556	exon12			CGGGTGCGTCTTG	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.1182G>A	5.37:g.115815886C>T		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	201	86	NM_020796	0	0	22	35	13	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																			.		0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		T	115815886	C	T	115815886	2	4	62	1	0	0	0	0	0	0	0	1	14084	755	27	1		1	SEMA6A	5	115815886	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	33523	115815886	65099374	470	12838											
FAM170A	340069	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	118970154	118970154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggcctgctgccgggtgttCaccaccatggaagccctcca	11	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:118970154C>T	ENST00000515256.1	+	3	883	c.711C>T	c.(709-711)ttC>ttT	p.F237F				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	237					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GCCGGGTGTTCACCACCATGG	0.592																																					p.F237F		.											.	FAM170A-91	0			c.C711T						.						126	132	130					5																	118970154		2076	4210	6286	SO:0001819	synonymous_variant	340069	exon3			GGTGTTCACCACC	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.711C>T	5.37:g.118970154C>T		Somatic	142	1		WXS	Illumina GAIIx	Phase_I	162	67	NM_182761	0	0	0	0	0	Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37																																																																																				.		0.592	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		T	118970154	C	T	118970154	2	4	62	1	0	0	0	0	0	0	0	1	5508	825	29	3		3	FAM170A	5	118970154	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3154268	118970154	61945106	471	12839											
ZNF608	57507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	123976977	123976977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattgacccgggattagcGggtaacccatgccaacgtgg	12	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:123976977G>A	ENST00000306315.5	-	7	4853	c.4418C>T	c.(4417-4419)cCg>cTg	p.P1473L	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.P1046L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1473							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CGGGATTAGCGGGTAACCCAT	0.537																																					p.P1473L		.											.	ZNF608-229	0			c.C4418T						.						198	192	194					5																	123976977		2203	4300	6503	SO:0001583	missense	57507	exon7			ATTAGCGGGTAAC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4418C>T	5.37:g.123976977G>A	ENSP00000307746:p.Pro1473Leu	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	136	64	NM_020747	0	0	8	10	2	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809321	0.50421	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.54071	0.59;0.6	5.4	5.4	0.78164	.	0.166180	0.56097	D	0.000037	T	0.70325	0.3211	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.72587	-0.4248	10	0.72032	D	0.01	-7.225	19.5297	0.95223	0.0:0.0:1.0:0.0	.	1473	Q9ULD9	ZN608_HUMAN	L	1046;1473	ENSP00000427657:P1046L;ENSP00000307746:P1473L	ENSP00000307746:P1473L	P	-	2	0	ZNF608	124004876	1.000000	0.71417	0.956000	0.39512	0.236000	0.25371	8.914000	0.92735	2.695000	0.91970	0.643000	0.83706	CCG	.		0.537	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	123976977	G	A	123976977	3	1	62	1	0	0	0	0	1	0	0	0	18082	1116	39	1	132	1	ZNF608	5	123976977	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5006823	123976977	56938283	472	12840											
SLC12A2	6558	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	127493843	127493843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtttgatgatctgtgGccatgtacatatggtaagta	12	4	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:127493843G>A	ENST00000262461.2	+	16	2651	c.2462G>A	c.(2461-2463)gGc>gAc	p.G821D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G821D	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	821					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)	ATGATCTGTGGCCATGTACAT	0.343																																					p.G821D		.											.	SLC12A2-94	0			c.G2462A						.						122	111	114					5																	127493843		2203	4300	6503	SO:0001583	missense	6558	exon16			TCTGTGGCCATGT		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.2462G>A	5.37:g.127493843G>A	ENSP00000262461:p.Gly821Asp	Somatic	82	1		WXS	Illumina GAIIx	Phase_I	117	57	NM_001046	0	0	0	0	0	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793557	0.90453	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.95756	-3.8;-3.8	5.31	5.31	0.75309	.	0.053535	0.85682	D	0.000000	D	0.98321	0.9443	M	0.93638	3.44	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.68353	0.943;0.957;0.907	D	0.98974	1.0802	10	0.72032	D	0.01	.	19.1727	0.93585	0.0:0.0:1.0:0.0	.	821;35;821	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	D	821	ENSP00000262461:G821D;ENSP00000340878:G821D	ENSP00000262461:G821D	G	+	2	0	SLC12A2	127521742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.779000	0.95612	0.655000	0.94253	GGC	.		0.343	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		A	127493843	G	A	127493843	3	1	62	1	0	0	0	0	1	0	0	0	14428	1203	42	3	2524	3	SLC12A2	5	127493843	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3516866	127493843	53421417	473	12841											
RAPGEF6	51735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	130766961	130766961	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcttctataatgatAtgctcttgagaaatctcttc	6	9	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:130766961A>T	ENST00000509018.1	-	26	4261	c.4056T>A	c.(4054-4056)caT>caA	p.H1352Q	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1360Q|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1402Q|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1365Q|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1360Q	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1352	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTATAATGATATGCTCTTGAG	0.443																																					p.H1365Q	Melanoma(168;435 1955 13113 13877 23213)	.											.	RAPGEF6-661	0			c.T4095A						.						87	88	88					5																	130766961		2203	4300	6503	SO:0001583	missense	51735	exon28			AATGATATGCTCT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4056T>A	5.37:g.130766961A>T	ENSP00000421684:p.His1352Gln	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	67	33	NM_001164387	0	0	5	8	3	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366312	0.24771	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.25749	1.88;1.78;1.78;1.88;1.97	5.11	-1.84	0.07809	.	0.046479	0.85682	D	0.000000	T	0.22627	0.0546	L	0.55103	1.725	0.80722	D	1	P;B;B;B;B	0.47409	0.895;0.016;0.016;0.077;0.016	P;B;B;B;B	0.46452	0.517;0.019;0.019;0.131;0.019	T	0.34650	-0.9820	10	0.08179	T	0.78	.	11.3983	0.49856	0.2847:0.0:0.7153:0.0	.	1360;1360;1402;1365;1352	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	Q	1352;1365;1360;1360;1365;1402	ENSP00000421684:H1352Q;ENSP00000309298:H1365Q;ENSP00000426081:H1360Q;ENSP00000296859:H1360Q;ENSP00000426948:H1402Q	ENSP00000426948:H1402Q	H	-	3	2	RAPGEF6;FNIP1	130794860	0.998000	0.40836	0.117000	0.21633	0.973000	0.67179	0.466000	0.22019	-0.153000	0.11137	0.533000	0.62120	CAT	.		0.443	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		T	130766961	A	T	130766961	3	4	62	1	0	0	0	0	1	0	0	0	13093	446	16	5	761	5	RAPGEF6	5	130766961	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3273118	130766961	50148299	474	12842											
ANKRD43	134548	hgsc.bcm.edu	37	chr5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccgcccttggtccGggtgccgcggccagtggagc	18	14	0	0	rs40274	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2	3	3		371	-0.3	0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132149684	G	C	132149684	3	2	62	1	0	0	0	0	1	0	0	0	671	1116	39	2	373	2	ANKRD43	5	132149684	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1382723	132149684	48765576	475	12843											
PCBD2	84105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	134296370	134296370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaagcagctgcttctgtgtGatttcttccaaaatacatgt	7	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:134296370G>A	ENST00000512783.1	+	4	412	c.392G>A	c.(391-393)tGa>tAa	p.*131*	PCBD2_ENST00000254908.6_Silent_p.*131*			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	0					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTCTGTGTGATTTCTTCCA	0.358																																					p.X131X		.											.	PCBD2-90	0			c.G392A						.						65	59	61					5																	134296370		1845	4101	5946	SO:0001819	synonymous_variant	84105	exon4			CTGTGTGATTTCT	AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.392G>A	5.37:g.134296370G>A		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	122	54	NM_032151	0	0	5	11	6	Q8TD40	Silent	SNP	ENST00000512783.1	37	CCDS43364.1																																																																																			.		0.358	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371578.1	NM_032151		A	134296370	G	A	134296370	2	1	62	1	0	0	0	0	0	0	0	1	11538	1285	45	3		3	PCBD2	5	134296370	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2146686	134296370	46618890	476	12844											
TGFBI	7045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	135396593	135396593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggccacaaatggcgtggTccatgtcatcaccaatgttc	9	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:135396593T>C	ENST00000442011.2	+	14	2035	c.1874T>C	c.(1873-1875)gTc>gCc	p.V625A	TGFBI_ENST00000508076.1_Missense_Mutation_p.V7A|TGFBI_ENST00000305126.8_Missense_Mutation_p.V625A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	625	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.		Missing (in lattice corneal dystrophy; unclassified form). {ECO:0000269|PubMed:15623763}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGGCGTGGTCCATGTCATC	0.493																																					p.V625A		.											.	TGFBI-26	0			c.T1874C	GRCh37	CM074596	TGFBI	M		.						54	56	55					5																	135396593		2108	4221	6329	SO:0001583	missense	7045	exon14			GCGTGGTCCATGT	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1874T>C	5.37:g.135396593T>C	ENSP00000416330:p.Val625Ala	Somatic	402	1		WXS	Illumina GAIIx	Phase_I	452	177	NM_000358	0	0	83	87	4	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.945775|2.945775	0.53079|0.53079	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000503087|ENST00000442011;ENST00000398813;ENST00000305126;ENST00000508076	.|D;D;T	.|0.93426	.|-3.22;-3.22;-0.88	6.07|6.07	6.07|6.07	0.98685|0.98685	.|FAS1 domain (5);	.|0.102514	.|0.64402	.|D	.|0.000003	D|D	0.95689|0.95689	0.8598|0.8598	M|M	0.74881|0.74881	2.28|2.28	0.51767|0.51767	D|D	0.999931|0.999931	.|B;P	.|0.38992	.|0.373;0.653	.|P;P	.|0.51918	.|0.684;0.684	D|D	0.95807|0.95807	0.8838|0.8838	5|10	.|0.87932	.|D	.|0	-18.8228|-18.8228	16.6277|16.6277	0.84984|0.84984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|358;625	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	P|A	34|625;358;625;7	.|ENSP00000416330:V625A;ENSP00000306306:V625A;ENSP00000423935:V7A	.|ENSP00000306306:V625A	S|V	+|+	1|2	0|0	TGFBI|TGFBI	135424492|135424492	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.121000|0.121000	0.20230|0.20230	7.024000|7.024000	0.76443|0.76443	2.330000|2.330000	0.79161|0.79161	0.528000|0.528000	0.53228|0.53228	TCC|GTC	.		0.493	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			C	135396593	T	C	135396593	3	2	62	1	0	0	0	0	1	0	0	0	15867	1667	58	4	1928	4	TGFBI	5	135396593	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1100223	135396593	45518667	477	12845											
TRPC7	57113	ucsc.edu;bcgsc.ca	37	chr5	135587359	135587359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtgaagtatgccacttcCggcggaagcgagacattgtg	14	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:135587359C>T	ENST00000513104.1	-	6	1839	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TRPC7_ENST00000355180.3_Silent_p.P458P|TRPC7_ENST00000426057.2_Silent_p.P403P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	519					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)			ATGCCACTTCCGGCGGAAGCG	0.602																																					p.P519P		.											.	.	0			c.G1557A						.						40	43	42					5																	135587359		2152	4251	6403	SO:0001819	synonymous_variant	57113	exon6			CACTTCCGGCGGA	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.1557G>A	5.37:g.135587359C>T		Somatic	277	2		WXS	Illumina GAIIx	Phase_I	374	172	NM_020389	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068459	0.07228	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.21	1.13	0.20643	.	.	.	.	.	T	0.40570	0.1122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25012	-1.0144	4	.	.	.	-20.4327	0.5939	0.00733	0.3345:0.2933:0.1195:0.2527	.	.	.	.	R	403;458;464	.	.	G	-	1	0	TRPC7	135615258	0.004000	0.15560	1.000000	0.80357	0.040000	0.13550	-1.162000	0.03141	0.343000	0.23821	0.650000	0.86243	GGA	.		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		T	135587359	C	T	135587359	2	4	62	1	0	0	0	0	0	0	0	1	16632	639	23	1		1	TRPC7	5	135587359	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	190766	135587359	45327901	478	12846											
KDM3B	51780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	137722268	137722268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgcagcagggactgtGccagaaaaacagaaaggcag	14	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:137722268G>A	ENST00000314358.5	+	7	1538	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	KDM3B_ENST00000394866.1_Silent_p.V102V|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	446					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGGGACTGTGCCAGAAAAAC	0.562																																					p.V446V		.											.	KDM3B-542	0			c.G1338A						.						62	72	69					5																	137722268		2203	4300	6503	SO:0001819	synonymous_variant	51780	exon7			GACTGTGCCAGAA	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1338G>A	5.37:g.137722268G>A		Somatic	258	0		WXS	Illumina GAIIx	Phase_I	307	137	NM_016604	0	0	11	21	10	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																			.		0.562	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		A	137722268	G	A	137722268	2	1	62	1	0	0	0	0	0	0	0	1	8154	1306	46	3		3	KDM3B	5	137722268	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2134909	137722268	43192992	479	12847											
PCDHA7	56141	bcgsc.ca	37	chr5	140215497	140215497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgagctacgtgtcagTgcacgcggagagcggcaagg	17	10	1	1	rs576159276		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140215497T>C	ENST00000525929.1	+	1	1529	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A	PCDHA7_ENST00000378125.3_Missense_Mutation_p.V510A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGTGTCAGTGCACGCGGAG	0.701																																					p.V510A	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.T1529C						.						69	73	72					5																	140215497		2203	4296	6499	SO:0001583	missense	56141	exon1			TGTCAGTGCACGC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1529T>C	5.37:g.140215497T>C	ENSP00000436426:p.Val510Ala	Somatic	97	2		WXS	Illumina GAIIx	Phase_I	405	181	NM_031852	0	0	1	3	2	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778050	0.49786	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.68181	-0.31;-0.31	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	0.000000	0.29066	U	0.013244	D	0.85673	0.5751	H	0.94503	3.545	0.24325	N	0.99502	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	13.2918	0.60274	0.0:0.0:0.0:1.0	.	510;510	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	A	510	ENSP00000436426:V510A;ENSP00000367365:V510A	ENSP00000367365:V510A	V	+	2	0	PCDHA7	140195681	0.921000	0.31238	0.996000	0.52242	0.357000	0.29423	7.043000	0.76572	1.592000	0.50018	0.254000	0.18369	GTG	.		0.701	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		C	140215497	T	C	140215497	3	2	62	1	0	0	0	0	1	0	0	0	11568	1696	59	4	1531	4	PCDHA7	5	140215497	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2493229	140215497	40699763	480	12848											
PCDHB2	56133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140475545	140475545	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgctccatccaagatgatCttccttttttcttgaaacct	5	11	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140475545C>T	ENST00000194155.4	+	1	1319	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAAGATGATCTTCCTTTTTT	0.483																																					p.L391F		.											.	PCDHB2-96	0			c.C1171T						.						105	95	99					5																	140475545		2203	4300	6503	SO:0001583	missense	56133	exon1			GATGATCTTCCTT	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1171C>T	5.37:g.140475545C>T	ENSP00000194155:p.Leu391Phe	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	292	138	NM_018936	0	0	1	1	0	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305099	0.40795	.	.	ENSG00000112852	ENST00000194155	T	0.51817	0.69	5.15	2.13	0.27403	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67767	0.2928	M	0.88377	2.95	0.22199	N	0.999297	D	0.71674	0.998	D	0.74348	0.983	T	0.54925	-0.8220	9	0.87932	D	0	.	5.3662	0.16115	0.0:0.486:0.287:0.2271	.	391	Q9Y5E7	PCDB2_HUMAN	F	391	ENSP00000194155:L391F	ENSP00000194155:L391F	L	+	1	0	PCDHB2	140455729	0.000000	0.05858	0.989000	0.46669	0.678000	0.39670	-0.441000	0.06879	0.638000	0.30545	0.655000	0.94253	CTT	.		0.483	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140475545	C	T	140475545	3	4	62	1	0	0	0	0	1	0	0	0	11581	913	32	3	1173	3	PCDHB2	5	140475545	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	260048	140475545	40439715	481	12849											
PCDHB5	26167	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140516394	140516394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctacaccctgttcgtcCgagagaacaacagccccgcc	7	19	0	1	rs201677139		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140516394C>T	ENST00000231134.5	+	1	1595	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R460*(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)			CCTGTTCGTCCGAGAGAACAA	0.617																																					p.R460X		.											.	PCDHB5-95	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1378T						.						114	106	109					5																	140516394		2202	4296	6498	SO:0001587	stop_gained	26167	exon1			TTCGTCCGAGAGA	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.1378C>T	5.37:g.140516394C>T	ENSP00000231134:p.Arg460*	Somatic	231	1		WXS	Illumina GAIIx	Phase_I	322	133	NM_015669	0	0	67	98	31	Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899141	0.72754	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	.	.	.	4.81	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1449	0.48424	0.134:0.6072:0.2588:0.0	.	.	.	.	X	460;244	.	ENSP00000231134:R460X	R	+	1	2	PCDHB5	140496578	0.000000	0.05858	0.005000	0.12908	0.362000	0.29581	-0.272000	0.08560	0.502000	0.28037	-0.314000	0.08810	CGA	C|0.998;G|0.001;T|0.001		0.617	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140516394	C	T	140516394	4	4	62	1	0	0	0	0	0	1	0	0	11584	644	23	1	1380	1	PCDHB5	5	140516394	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	40849	140516394	40398866	482	12850											
PCDHB5	26167	hgsc.bcm.edu	37	chr5	140516906	140516906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccgccaggctgctgagCgagcgcgacgcggccaagca	15	16	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140516906C>T	ENST00000231134.5	+	1	2107	c.1890C>T	c.(1888-1890)agC>agT	p.S630S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	630	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)			GGCTGCTGAGCGAGCGCGACG	0.692																																					p.S630S		.											.	PCDHB5-95	0			c.C1890T						.						33	36	35					5																	140516906		2007	3990	5997	SO:0001819	synonymous_variant	26167	exon1			GCTGAGCGAGCGC	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.1890C>T	5.37:g.140516906C>T		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	105	45	NM_015669	0	0	29	51	22	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																			.		0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140516906	C	T	140516906	2	4	62	1	0	0	0	0	0	0	0	1	11584	767	27	1		1	PCDHB5	5	140516906	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	512	140516906	40398354	483	12851											
PCDHB6	56130	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	140531452	140531452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccgcggctccccggcGttgagcagcgaggcgctggt	16	14	0	2	rs539797733	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140531452G>A	ENST00000231136.1	+	1	1614	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	PCDHB6_ENST00000543635.1_Silent_p.A402A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGTTGAGCAGCG	0.682																																					p.A538A		.											.	PCDHB6-91	0			c.G1614A						.						51	58	56					5																	140531452		2202	4300	6502	SO:0001819	synonymous_variant	56130	exon1			CCCGGCGTTGAGC	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.1614G>A	5.37:g.140531452G>A		Somatic	137	1		WXS	Illumina GAIIx	Phase_I	514	223	NM_018939	0	0	0	0	0	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			.		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		A	140531452	G	A	140531452	2	1	62	1	0	0	0	0	0	0	0	1	11585	1132	40	1		1	PCDHB6	5	140531452	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	14546	140531452	40383808	484	12852											
PCDHB7	56129	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	140554289	140554289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgtaccgccaggctgctgagc	17	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140554289C>T	ENST00000231137.3	+	1	2047	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGTACCGCCAG	0.697																																					p.R625C		.											.	PCDHB7-95	0			c.C1873T						.						41	63	55					5																	140554289		2192	4284	6476	SO:0001583	missense	56129	exon1			GAGGTGCGTACCG	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.1873C>T	5.37:g.140554289C>T	ENSP00000231137:p.Arg625Cys	Somatic	44	1		WXS	Illumina GAIIx	Phase_I	289	60	NM_018940	0	0	1	1	0	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087283	0.55968	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74351	0.3705	M	0.94101	3.495	0.42862	D	0.994115	D	0.89917	1.0	D	0.87578	0.998	T	0.81468	-0.0919	9	0.72032	D	0.01	.	12.1735	0.54172	0.1717:0.8283:0.0:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	C	625	ENSP00000231137:R625C	ENSP00000231137:R625C	R	+	1	0	PCDHB7	140534473	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.111000	0.41883	1.922000	0.55676	0.449000	0.29647	CGT	.		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140554289	C	T	140554289	3	4	62	1	0	0	0	0	1	0	0	0	11586	768	27	1	1875	1	PCDHB7	5	140554289	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	22837	140554289	40360971	485	12853											
PCDHB13	56123	hgsc.bcm.edu	37	chr5	140595600	140595600	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagcgagcgcgacgcGgccaagcacaggctggtggt	17	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140595600G>C	ENST00000341948.4	+	1	2092	c.1905G>C	c.(1903-1905)gcG>gcC	p.A635A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCGACGCGGCCAAGCACA	0.692																																					p.A635A		.											.	PCDHB13-93	0			c.G1905C						.						16	18	17					5																	140595600		1664	3483	5147	SO:0001819	synonymous_variant	56123	exon1			CGACGCGGCCAAG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1905G>C	5.37:g.140595600G>C		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	130	51	NM_018933	0	0	26	34	8	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			.		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		C	140595600	G	C	140595600	2	2	62	1	0	0	0	0	0	0	0	1	11577	1103	39	2		2	PCDHB13	5	140595600	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	41311	140595600	40319660	486	12854											
PCDHGA3	56112	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140724077	140724077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattaaaactgcttttgaCccagatgtaggcattaactc	6	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140724077C>T	ENST00000253812.6	+	1	477	c.477C>T	c.(475-477)gaC>gaT	p.D159D	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	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTTTGACCCAGATGTAG	0.433																																					p.D159D		.											.	PCDHGA3-68	0			c.C477T						.						77	75	76					5																	140724077		1895	4123	6018	SO:0001819	synonymous_variant	56112	exon1			TTTTGACCCAGAT	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.477C>T	5.37:g.140724077C>T		Somatic	63	1		WXS	Illumina GAIIx	Phase_I	92	38	NM_032011	0	0	0	3	3	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.433	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140724077	C	T	140724077	2	4	62	1	0	0	0	0	0	0	0	1	11594	506	18	3		3	PCDHGA3	5	140724077	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	128477	140724077	40191183	487	12855											
PCDHGB6	56100	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140789294	140789294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatacgtgtcagtgagcGcgcagagcggggtggtgttc	17	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140789294G>A	ENST00000520790.1	+	1	1525	c.1525G>A	c.(1525-1527)Gcg>Acg	p.A509T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGTGAGCGCGCAGAGCGG	0.662																																					p.A509T		.											.	.	0			c.G1525A						.						20	23	22					5																	140789294		2027	4177	6204	SO:0001583	missense	56100	exon1			GTGAGCGCGCAGA	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1525G>A	5.37:g.140789294G>A	ENSP00000428603:p.Ala509Thr	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	192	82	NM_032100	0	0	1	1	0	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334474	0.41297	.	.	ENSG00000253305	ENST00000520790	T	0.47869	0.83	5.36	-1.67	0.08238	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31918	0.0812	N	0.16037	0.36	0.09310	N	1	P;P	0.51791	0.948;0.887	P;B	0.49276	0.605;0.375	T	0.20107	-1.0285	9	0.66056	D	0.02	.	3.7895	0.08715	0.1229:0.4071:0.2629:0.207	.	509;509	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	T	509	ENSP00000428603:A509T	ENSP00000428603:A509T	A	+	1	0	PCDHGB6	140769478	0.000000	0.05858	0.796000	0.32109	0.143000	0.21401	-2.572000	0.00912	-0.039000	0.13602	0.462000	0.41574	GCG	.		0.662	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		A	140789294	G	A	140789294	3	1	62	1	0	0	0	0	1	0	0	0	11606	1087	38	1	1527	1	PCDHGB6	5	140789294	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	65217	140789294	40125966	488	12856											
RELL2	285613	hgsc.bcm.edu;bcgsc.ca	37	chr5	141017910	141017912	+	In_Frame_Del	DEL	AAG	AAG	-													tcatgatctgccacgtgctcAagaagaagggctaccgctgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:141017910_141017912delAAG	ENST00000297164.3	+	1	1318_1320	c.118_120delAAG	c.(118-120)aagdel	p.K42del	RELL2_ENST00000521367.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_In_Frame_Del_p.K42del|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'Flank	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	42					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGTGCTCAAGAAGAAGGGCT	0.596																																					p.40_40del		.											.	RELL2-90	0			c.118_120del						.																																			SO:0001651	inframe_deletion	285613	exon1			GTGCTCAAGAAGA	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.118_120delAAG	5.37:g.141017916_141017918delAAG	ENSP00000297164:p.Lys42del	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	106	35	NM_173828	0	0	0	0	0	D3DQE2|Q6P4E7|Q6UXY2	In_Frame_Del	DEL	ENST00000297164.3	37	CCDS4265.1																																																																																			.		0.596	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		-	141017912	AAG	-	141017910	7	5	62	1	0	1	0	1	0	0	0	0	13264	131	5	0	120	0	RELL2	5	141017910	In_Frame_Del	DEL	AAG	TCGA-PK-A5HB-01A-11D-A29I-10	228616	141017910	39897350	489	12857											
NR3C1	2908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	142662181	142662181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgataaaaccgctgccaGttctggctggagtttccttc	10	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:142662181G>A	ENST00000343796.2	-	8	3126	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N	NR3C1_ENST00000503201.1_Silent_p.N711N|NR3C1_ENST00000231509.3_Silent_p.N712N|NR3C1_ENST00000415690.2_Silent_p.N711N|NR3C1_ENST00000416954.2_Silent_p.N314N|NR3C1_ENST00000394464.2_Silent_p.N711N|NR3C1_ENST00000394466.2_Silent_p.N712N|NR3C1_ENST00000504572.1_Silent_p.N712N|NR3C1_ENST00000424646.2_Silent_p.N685N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	711	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ACCGCTGCCAGTTCTGGCTGG	0.398																																					p.N712N		.											.	NR3C1-92	0			c.C2136T						.						139	134	136					5																	142662181		2203	4300	6503	SO:0001819	synonymous_variant	2908	exon8			CTGCCAGTTCTGG	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2133C>T	5.37:g.142662181G>A		Somatic	56	0		WXS	Illumina GAIIx	Phase_I	52	17	NM_001024094	0	0	12	29	17	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																			.		0.398	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			A	142662181	G	A	142662181	2	1	62	1	0	0	0	0	0	0	0	1	10669	1020	36	3		3	NR3C1	5	142662181	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1644271	142662181	38253079	490	12858											
GRXCR2	643226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145246099	145246099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtaatgtgctttctgCctccaccaaaggtctatcgt	10	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145246099C>T	ENST00000377976.1	-	2	528	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	177						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGCTTTCTGCCTCCACCAAA	0.527																																					p.A177T		.											.	GRXCR2-22	0			c.G529A						.						164	157	159					5																	145246099		2203	4300	6503	SO:0001583	missense	643226	exon2			TTTCTGCCTCCAC		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.529G>A	5.37:g.145246099C>T	ENSP00000367214:p.Ala177Thr	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	105	20	NM_001080516	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377976.1	37	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423112	0.25639	.	.	ENSG00000204928	ENST00000377976	T	0.55930	0.49	5.21	-4.17	0.03857	.	1.272570	0.05005	N	0.469829	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	10	0.48119	T	0.1	-19.8894	4.0278	0.09695	0.1299:0.4927:0.1323:0.2451	.	177	A6NFK2	GRCR2_HUMAN	T	177	ENSP00000367214:A177T	ENSP00000367214:A177T	A	-	1	0	GRXCR2	145226292	0.000000	0.05858	0.030000	0.17652	0.027000	0.11550	-0.854000	0.04299	-0.309000	0.08779	0.462000	0.41574	GCA	.		0.527	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			T	145246099	C	T	145246099	3	4	62	1	0	0	0	0	1	0	0	0	6840	739	26	3	225	3	GRXCR2	5	145246099	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2583918	145246099	35669161	491	12859											
LARS	51520	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	145524102	145524103	+	Splice_Site	INS	-	-	G													tctccataatccaagtacctINSgggagtggacaaattgatat							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145524102_145524103insG	ENST00000394434.2	-	17	1756		c.e17-2		LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000274562.9_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCAAGTACCTGGGAGTGGACA	0.396																																					.		.											.	LARS-90	0			c.1590-2->C						.																																			SO:0001630	splice_region_variant	51520	exon18			AGTACCTGGGAGT	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1590-2->C	5.37:g.145524105_145524105dupG		Somatic	109	0		WXS	Illumina GAIIx	Phase_I	147	67	NM_020117	0	0	0	0	0	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	INS	ENST00000394434.2	37	CCDS34265.1																																																																																			.		0.396	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Intron	G	145524103	-	G	145524102	8	5	62	1	0	1	1	0	0	0	1	0	8662	1594	55	0	2006	0	LARS	5	145524102	Splice_Site	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	278003	145524102	35391158	492	12860											
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145634509	145634509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttgttttccctcagataCatatgaaccagatggttaca	7	9	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145634509C>A	ENST00000265271.5	+	10	1614	c.1448C>A	c.(1447-1449)aCa>aAa	p.T483K	RBM27_ENST00000506502.1_Missense_Mutation_p.T428K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	483					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)			CCCTCAGATACATATGAACCA	0.368																																					p.T483K		.											.	RBM27-70	0			c.C1448A						.						94	82	86					5																	145634509		1568	3582	5150	SO:0001583	missense	54439	exon10			CAGATACATATGA	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.1448C>A	5.37:g.145634509C>A	ENSP00000265271:p.Thr483Lys	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	69	21	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129605	0.77549	.	.	ENSG00000091009	ENST00000265271	T	0.49432	0.78	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.57592	0.2064	L	0.32530	0.975	0.41943	D	0.99062	P;D	0.71674	0.895;0.998	B;D	0.76071	0.354;0.987	T	0.48614	-0.9020	10	0.15952	T	0.53	-13.0871	19.1633	0.93543	0.0:1.0:0.0:0.0	.	483;428	Q9P2N5;B3KY61	RBM27_HUMAN;.	K	483	ENSP00000265271:T483K	ENSP00000265271:T483K	T	+	2	0	RBM27	145614702	0.997000	0.39634	0.971000	0.41717	0.972000	0.66771	3.554000	0.53720	2.601000	0.87937	0.650000	0.86243	ACA	.		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		A	145634509	C	A	145634509	3	1	62	1	0	0	0	0	1	0	0	0	13172	478	17	3	1486	3	RBM27	5	145634509	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	110407	145634509	35280751	493	12861											
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	145647328	145647328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtgcttaaaaaaaaAcaggtaacagtcttgattct	7	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145647328A>C	ENST00000265271.5	+	15	2614	c.2448A>C	c.(2446-2448)aaA>aaC	p.K816N	RBM27_ENST00000506502.1_Missense_Mutation_p.K761N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	816					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)			TTAAAAAAAAACAGGTAACAG	0.358																																					p.K816N		.											.	RBM27-70	0			c.A2448C						.						81	74	76					5																	145647328		1568	3582	5150	SO:0001583	missense	54439	exon15			AAAAAAACAGGTA	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.2448A>C	5.37:g.145647328A>C	ENSP00000265271:p.Lys816Asn	Somatic	241	1		WXS	Illumina GAIIx	Phase_I	272	115	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936437	0.52972	.	.	ENSG00000091009	ENST00000265271	T	0.56776	0.44	5.01	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.58101	1.795	0.53005	D	0.999969	P;D	0.71674	0.839;0.998	B;D	0.76071	0.264;0.987	T	0.61831	-0.6982	10	0.87932	D	0	-16.5237	8.895	0.35458	0.4271:0.0:0.5729:0.0	.	816;761	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	816	ENSP00000265271:K816N	ENSP00000265271:K816N	K	+	3	2	RBM27	145627521	0.996000	0.38824	1.000000	0.80357	0.557000	0.35523	0.377000	0.20552	0.102000	0.17638	0.383000	0.25322	AAA	.		0.358	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		C	145647328	A	C	145647328	3	2	62	1	0	0	0	0	1	0	0	0	13172	40	2	5	2506	5	RBM27	5	145647328	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	12819	145647328	35267932	494	12862											
TCERG1	10915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145834680	145834680	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccaaatgcagtgatgCgaggcccaccacctctgatg	9	16	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145834680C>T	ENST00000296702.5	+	2	159	c.121C>T	c.(121-123)Cga>Tga	p.R41*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R41*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	41	Pro-rich.				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)			TGCAGTGATGCGAGGCCCACC	0.562																																					p.R41X		.											.	TCERG1-92	0			c.C121T						.						97	96	96					5																	145834680		2203	4300	6503	SO:0001587	stop_gained	10915	exon2			GTGATGCGAGGCC	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.121C>T	5.37:g.145834680C>T	ENSP00000296702:p.Arg41*	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	140	66	NM_006706	0	0	5	7	2	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129350	0.94473	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8603	13.4308	0.61053	0.3519:0.6481:0.0:0.0	.	.	.	.	X	41	.	ENSP00000296702:R41X	R	+	1	2	TCERG1	145814873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.895000	0.28363	2.814000	0.96858	0.563000	0.77884	CGA	.		0.562	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145834680	C	T	145834680	4	4	62	1	0	0	0	0	0	1	0	0	15732	760	27	1	127	1	TCERG1	5	145834680	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	187352	145834680	35080580	495	12863											
TCERG1	10915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145849290	145849290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaacctgggaaaaaccccAagaactaaaggaaaaaggta	8	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145849290A>G	ENST00000296702.5	+	7	1420	c.1382A>G	c.(1381-1383)cAa>cGa	p.Q461R	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q440R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	461	Glu-rich.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)			GAAAAACCCCAAGAACTAAAG	0.308																																					p.Q461R		.											.	TCERG1-92	0			c.A1382G						.						45	54	51					5																	145849290		2193	4291	6484	SO:0001583	missense	10915	exon7			AACCCCAAGAACT	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.1382A>G	5.37:g.145849290A>G	ENSP00000296702:p.Gln461Arg	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	37	11	NM_006706	0	0	5	14	9	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859123	0.32884	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.77620	-1.11;-1.11	5.71	5.71	0.89125	WW/Rsp5/WWP (4);	0.331876	0.33496	N	0.004853	T	0.65428	0.2690	N	0.21508	0.67	0.46521	D	0.999083	B;B;B	0.27732	0.118;0.187;0.118	B;B;B	0.24701	0.037;0.055;0.025	T	0.61969	-0.6953	10	0.18276	T	0.48	-19.4642	15.979	0.80091	1.0:0.0:0.0:0.0	.	440;440;461	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	R	461;440	ENSP00000296702:Q461R;ENSP00000377943:Q440R	ENSP00000296702:Q461R	Q	+	2	0	TCERG1	145829483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.751000	0.68720	2.182000	0.69389	0.460000	0.39030	CAA	.		0.308	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		G	145849290	A	G	145849290	3	3	62	1	0	0	0	0	1	0	0	0	15732	130	5	4	1408	4	TCERG1	5	145849290	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	14610	145849290	35065970	496	12864											
FBXO38	81545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	147805102	147805102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacccagtggtcttcagCgtgtagtaaaaccaacctca	9	11	3	0	rs144744644		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:147805102C>T	ENST00000340253.5	+	14	1924	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	FBXO38_ENST00000513826.1_Missense_Mutation_p.R586C|FBXO38_ENST00000296701.6_Missense_Mutation_p.R586C|FBXO38_ENST00000394370.3_Missense_Mutation_p.R586C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	586					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTCAGCGTGTAGTAAA	0.408																																					p.R586C		.											.	FBXO38-231	0			c.C1756T						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	120	118	119		1756,1756	5.8	1	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	FBXO38	NM_030793.3,NM_205836.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	586/1114,586/1189	147805102	1,13005	2203	4300	6503	SO:0001583	missense	81545	exon14			CTTCAGCGTGTAG	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1756C>T	5.37:g.147805102C>T	ENSP00000342023:p.Arg586Cys	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	160	75	NM_001271723	0	0	20	32	12	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443720	0.83993	2.27E-4	0.0	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.33654	1.4;1.44;1.4;1.44	5.76	5.76	0.90799	.	0.222455	0.48767	D	0.000169	T	0.31104	0.0786	N	0.08118	0	0.58432	D	0.999995	D;P;P	0.65815	0.995;0.923;0.923	P;B;B	0.48982	0.597;0.365;0.276	T	0.25916	-1.0118	10	0.66056	D	0.02	-15.312	18.9061	0.92462	0.0:1.0:0.0:0.0	.	586;586;586	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	C	586	ENSP00000342023:R586C;ENSP00000296701:R586C;ENSP00000377895:R586C;ENSP00000426410:R586C	ENSP00000296701:R586C	R	+	1	0	FBXO38	147785295	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.379000	0.52440	2.880000	0.98712	0.650000	0.86243	CGT	C|1.000;T|0.000		0.408	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		T	147805102	C	T	147805102	3	4	62	1	0	0	0	0	1	0	0	0	5768	768	27	1	1806	1	FBXO38	5	147805102	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1955812	147805102	33110158	497	12865											
PPARGC1B	133522	broad.mit.edu	37	chr5	149213123	149213123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacatttgcagatgagcCgctggtcccctcggagcccc	12	15	0	3	rs201665839		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:149213123C>T	ENST00000309241.5	+	5	1519	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P496L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P432L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P457L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	496					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCAGATGAGCCGCTGGTCCCC	0.667																																					p.P496L		.											.	PPARGC1B-186	0			c.C1487T						.						29	32	31					5																	149213123		2194	4297	6491	SO:0001583	missense	133522	exon5			ATGAGCCGCTGGT	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1487C>T	5.37:g.149213123C>T	ENSP00000312649:p.Pro496Leu	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	225	6	NM_133263	0	0	5	5	0	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.986	0.365916	0.11352	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.09255	3.0;3.0;3.02;3.0	4.66	3.73	0.42828	.	1.107920	0.06696	N	0.770607	T	0.12050	0.0293	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.006;0.017;0.01;0.01	B;B;B;B;B	0.14578	0.011;0.003;0.011;0.005;0.006	T	0.30297	-0.9983	10	0.87932	D	0	-0.0259	9.0666	0.36467	0.0:0.8861:0.0:0.1139	.	475;475;457;496;496	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	457;496;496;432	ENSP00000353638:P457L;ENSP00000377855:P496L;ENSP00000312649:P496L;ENSP00000384403:P432L	ENSP00000312649:P496L	P	+	2	0	PPARGC1B	149193316	0.004000	0.15560	0.006000	0.13384	0.059000	0.15707	1.782000	0.38654	0.930000	0.37217	0.561000	0.74099	CCG	C|0.999;T|0.000		0.667	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		T	149213123	C	T	149213123	3	4	62	1	0	0	0	0	1	0	0	0	12340	652	23	1	1512	1	PPARGC1B	5	149213123	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1408021	149213123	31702137	498	12866											
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149510124	149510124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggtctctgcaggcagAccagatgatgttcggctggg	15	8	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:149510124A>G	ENST00000261799.4	-	9	1814	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	449	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			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)	CTGCAGGCAGACCAGATGATG	0.607			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S449P		.		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	.	PDGFRB-1499	0			c.T1345C						.						102	112	108					5																	149510124		2203	4300	6503	SO:0001583	missense	5159	exon9			AGGCAGACCAGAT	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.1345T>C	5.37:g.149510124A>G	ENSP00000261799:p.Ser449Pro	Somatic	49	0	1725	WXS	Illumina GAIIx	Phase_I	64	27	NM_002609	1	0	74	75	0	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451272	0.63290	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76186	-1.0	4.87	4.87	0.63330	.	0.354353	0.24566	N	0.037426	T	0.68100	0.2964	L	0.47716	1.5	0.45806	D	0.998684	P;P	0.50710	0.592;0.938	B;B	0.40410	0.195;0.328	T	0.72020	-0.4416	10	0.51188	T	0.08	.	14.486	0.67616	1.0:0.0:0.0:0.0	.	449;449	A8KAM8;P09619	.;PGFRB_HUMAN	P	449;119	ENSP00000261799:S449P	ENSP00000261799:S449P	S	-	1	0	PDGFRB	149490317	1.000000	0.71417	0.988000	0.46212	0.863000	0.49368	5.131000	0.64751	1.825000	0.53177	0.379000	0.24179	TCT	.		0.607	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		G	149510124	A	G	149510124	3	3	62	1	0	0	0	0	1	0	0	0	11701	275	10	4	2035	4	PDGFRB	5	149510124	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	297001	149510124	31405136	499	12867											
GALNT10	55568	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	153760166	153760166	+	Frame_Shift_Del	DEL	A	A	-													cgatccctccagaactgcagAaagctgaccccagcgaccca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:153760166delA	ENST00000297107.6	+	6	1050	c.913delA	c.(913-915)aaafs	p.K305fs	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Del_p.K243fs|GALNT10_ENST00000425427.2_Frame_Shift_Del_p.K305fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	305					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAACTGCAGAAAGCTGACCC	0.567																																					p.K305fs		.											.	GALNT10-92	0			c.913delA						.						89	87	88					5																	153760166		2203	4300	6503	SO:0001589	frameshift_variant	55568	exon6			CTGCAGAAAGCTG	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.913delA	5.37:g.153760166delA	ENSP00000297107:p.Lys305fs	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	129	61	NM_198321	0	0	0	0	0	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Del	DEL	ENST00000297107.6	37	CCDS4325.1																																																																																			.		0.567	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		-	153760166	A	-	153760166	7	5	62	1	0	1	0	1	0	0	0	0	6233	247	9	0	935	0	GALNT10	5	153760166	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	4250042	153760166	27155094	500	12868											
LARP1	23367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	154173383	154173383	+	Frame_Shift_Del	DEL	C	C	-													ctgagtctgccacctacgtgCccgtggccccccccacccca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154173383delC	ENST00000336314.4	+	6	685	c.661delC	c.(661-663)cccfs	p.P221fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	298					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)			CACCTACGTGCCCGTGGCCCC	0.632																																					p.P221fs		.											.	LARP1-94	0			c.661delC						.						96	111	106					5																	154173383		2203	4300	6503	SO:0001589	frameshift_variant	23367	exon6			TACGTGCCCGTGG	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.661delC	5.37:g.154173383delC	ENSP00000336721:p.Pro221fs	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	115	45	NM_015315	0	0	0	0	0	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																			.		0.632	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154173383	C	-	154173383	7	5	62	1	0	1	0	1	0	0	0	0	8656	739	26	0	683	0	LARP1	5	154173383	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	413217	154173383	26741877	501	12869	127	2									
LARP1	23367	hgsc.bcm.edu	37	chr5	154173385	154173390	+	In_Frame_Del	DEL	CGTGGC	CGTGGC	-													gagtctgccacctacgtgccCgtggccccccccaccccagc					rs2276325	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CGTGGC	CGTGGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154173385_154173390delCGTGGC	ENST00000336314.4	+	6	687_692	c.663_668delCGTGGC	c.(661-669)cccgtggcc>ccc	p.VA222del		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	299					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)	p.T303fs*19(1)		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)			CCTACGTGCCCGTGGCCCCCCCCACC	0.636																																					p.221_223del		.											.	LARP1-94	1	Insertion - Frameshift(1)	large_intestine(1)	c.663_668del						.																																			SO:0001651	inframe_deletion	23367	exon6			CGTGCCCGTGGCC	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.663_668delCGTGGC	5.37:g.154173385_154173390delCGTGGC	ENSP00000336721:p.Val222_Ala223del	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	117	0	NM_015315	0	0	0	0	0	O94836|Q8N4M2|Q8NB73|Q9UFD7	In_Frame_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																			.		0.636	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154173390	CGTGGC	-	154173385	7	5	62	1	0	1	0	1	0	0	0	0	8656	639	23	0	685	0	LARP1	5	154173385	In_Frame_Del	DEL	CGTGGC	TCGA-PK-A5HB-01A-11D-A29I-10	2	154173385	26741875	502	12870	127	2									
CNOT8	9337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	154254927	154254927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaggagtggcccagaaGcagaatgaggatgtggactc	16	8	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154254927G>A	ENST00000517876.1	+	8	1283	c.807G>A	c.(805-807)aaG>aaA	p.K269K	CNOT8_ENST00000521583.1_Silent_p.K163K|CNOT8_ENST00000524105.1_Silent_p.K105K|CNOT8_ENST00000519404.1_Silent_p.K215K|CNOT8_ENST00000521450.1_Silent_p.K163K|CNOT8_ENST00000403027.2_Silent_p.K269K|CNOT8_ENST00000285896.6_Silent_p.K269K|CNOT8_ENST00000520671.1_Silent_p.K163K|CNOT8_ENST00000523698.1_Silent_p.K163K			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	269					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGCCCAGAAGCAGAATGAGG	0.542																																					p.K269K	NSCLC(140;1804 1895 27149 29895 35312)	.											.	CNOT8-90	0			c.G807A						.						142	117	126					5																	154254927		2203	4300	6503	SO:0001819	synonymous_variant	9337	exon7			CCAGAAGCAGAAT	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.807G>A	5.37:g.154254927G>A		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	100	40	NM_004779	0	0	61	119	58	B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Silent	SNP	ENST00000517876.1	37	CCDS4329.1																																																																																			.		0.542	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		A	154254927	G	A	154254927	2	1	62	1	0	0	0	0	0	0	0	1	3632	962	34	3		3	CNOT8	5	154254927	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	81542	154254927	26660333	503	12871											
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	158140042	158140042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccactgaacgaattcacGcccatcatccctgcgtggac	8	15	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:158140042G>A	ENST00000313708.6	-	13	1587	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	EBF1_ENST00000380654.4_Silent_p.G404G|EBF1_ENST00000517373.1_Silent_p.G427G|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	435					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGAATTCACGCCCATCATCC	0.577			T	HMGA2	lipoma																																p.G435G		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1-92	0			c.C1305T						.						134	112	119					5																	158140042		2203	4300	6503	SO:0001819	synonymous_variant	1879	exon13			ATTCACGCCCATC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1305C>T	5.37:g.158140042G>A		Somatic	195	0		WXS	Illumina GAIIx	Phase_I	209	80	NM_024007	0	0	9	13	4	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																			.		0.577	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		A	158140042	G	A	158140042	2	1	62	1	0	0	0	0	0	0	0	1	4894	1074	38	1		1	EBF1	5	158140042	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3885115	158140042	22775218	504	12872											
TTC1	7265	hgsc.bcm.edu;bcgsc.ca	37	chr5	159437837	159437837	+	Frame_Shift_Del	DEL	A	A	-													agaatacctaatagaactggAaaaaaacatgtcggatgaag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:159437837delA	ENST00000231238.5	+	2	412	c.302delA	c.(301-303)gaafs	p.E101fs	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Frame_Shift_Del_p.E101fs	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	101				E -> K (in Ref. 4; AAH00942). {ECO:0000305}.	protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		ATAGAACTGGAAAAAAACATG	0.378																																					p.E101fs		.											.	TTC1-91	0			c.302delA						.						41	45	44					5																	159437837		2203	4300	6503	SO:0001589	frameshift_variant	7265	exon2			AACTGGAAAAAAA	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.302delA	5.37:g.159437837delA	ENSP00000231238:p.Glu101fs	Somatic	151	1		WXS	Illumina GAIIx	Phase_I	205	77	NM_003314	0	0	0	0	0	B2RCT2|D3DQJ8|Q9BVT3	Frame_Shift_Del	DEL	ENST00000231238.5	37	CCDS4348.1																																																																																			.		0.378	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		-	159437837	A	-	159437837	7	5	62	1	0	1	0	1	0	0	0	0	16727	246	9	0	304	0	TTC1	5	159437837	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	1297795	159437837	21477423	505	12873											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	166711961	166711961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacagaaatcctAcagctccagtgagactctga	8	14	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:166711961A>G	ENST00000518659.1	+	1	158	c.119A>G	c.(118-120)tAc>tGc	p.Y40C	TENM2_ENST00000545108.1_Missense_Mutation_p.Y40C|CTB-180C19.1_ENST00000521697.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	40	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										CAGAAATCCTACAGCTCCAGT	0.552																																					p.Y40C		.											.	.	0			c.A119G						.						77	77	77					5																	166711961		692	1591	2283	SO:0001583	missense	57451	exon1			AATCCTACAGCTC	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.119A>G	5.37:g.166711961A>G	ENSP00000429430:p.Tyr40Cys	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	265	106	NM_001122679	0	0	1	3	2	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.286742	0.80803	.	.	ENSG00000145934	ENST00000518659;ENST00000545108	T;T	0.47177	0.85;0.85	5.25	5.25	0.73442	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.66307	0.2776	L	0.61218	1.895	0.49051	D	0.999748	D	0.76494	0.999	D	0.83275	0.996	T	0.70048	-0.4979	9	0.87932	D	0	.	15.1764	0.72916	1.0:0.0:0.0:0.0	.	40	Q9NT68	TEN2_HUMAN	C	40	ENSP00000429430:Y40C;ENSP00000438635:Y40C	ENSP00000429430:Y40C	Y	+	2	0	ODZ2	166644539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.985000	0.57927	0.477000	0.44152	TAC	.		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	166711961	A	G	166711961	3	3	62	1	0	0	0	0	1	0	0	0	10874	391	14	4	121	4	ODZ2	5	166711961	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	7274124	166711961	14203299	506	12874											
ODZ2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	167617506	167617506	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaagctcttggcaggcAaggatagcacccacatcatt	9	11	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:167617506A>T	ENST00000518659.1	+	14	2773	c.2734A>T	c.(2734-2736)Aag>Tag	p.K912*	TENM2_ENST00000519204.1_Nonsense_Mutation_p.K791*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.K736*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.K912*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.K680*|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	912					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)										CTTGGCAGGCAAGGATAGCAC	0.557																																					p.K903X		.											.	.	0			c.A2707T						.						56	57	57					5																	167617506		2006	4175	6181	SO:0001587	stop_gained	57451	exon14			GCAGGCAAGGATA	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.2734A>T	5.37:g.167617506A>T	ENSP00000429430:p.Lys912*	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	262	108	NM_001122679	0	0	0	0	0	Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	40	8.283360	0.98742	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.82	5.82	0.92795	.	0.281574	0.40640	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.1818	0.81909	1.0:0.0:0.0:0.0	.	.	.	.	X	912;912;791;680;736	.	ENSP00000384905:K736X	K	+	1	0	ODZ2	167550084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.823000	0.69272	2.225000	0.72522	0.459000	0.35465	AAG	.		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167617506	A	T	167617506	4	4	62	1	0	0	0	0	0	1	0	0	10874	131	5	5	2761	5	ODZ2	5	167617506	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	905545	167617506	13297754	507	12875											
SLIT3	6586	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	168201335	168201335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttgaggttctgcaggtcCtgaaacgtgttcacccgcag	12	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:168201335C>T	ENST00000519560.1	-	13	1619	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SLIT3_ENST00000332966.8_Silent_p.Q400Q|SLIT3_ENST00000404867.3_Silent_p.Q400Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	400					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCAGGTCCTGAAACGTGT	0.527																																					p.Q400Q	Ovarian(29;311 847 10864 17279 24903)	.											.	SLIT3-95	0			c.G1200A						.						245	233	237					5																	168201335		2203	4300	6503	SO:0001819	synonymous_variant	6586	exon13			CAGGTCCTGAAAC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1200G>A	5.37:g.168201335C>T		Somatic	156	2		WXS	Illumina GAIIx	Phase_I	247	95	NM_001271946	0	0	44	90	46	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																			.		0.527	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168201335	C	T	168201335	2	4	62	1	0	0	0	0	0	0	0	1	14786	680	24	3		3	SLIT3	5	168201335	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	583829	168201335	12713925	508	12876											
TLX3	30012	broad.mit.edu;bcgsc.ca	37	chr5	170737206	170737206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcatcggccacccctaCcagaaccggacgccgcccaa	10	20	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:170737206C>T	ENST00000296921.5	+	2	556	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	158					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCACCCCTACCAGAACCGGA	0.687			T	BCL11B	T-ALL																																p.Y158Y	Esophageal Squamous(33;43 807 3116 3348 30094)	.		Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	.	TLX3-658	0			c.C474T						.						14	15	15					5																	170737206		2122	4170	6292	SO:0001819	synonymous_variant	30012	exon2			CCCCTACCAGAAC	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.474C>T	5.37:g.170737206C>T		Somatic	121	1		WXS	Illumina GAIIx	Phase_I	231	97	NM_021025	1	0	3	15	11	Q96AD3	Silent	SNP	ENST00000296921.5	37	CCDS34288.1																																																																																			.		0.687	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			T	170737206	C	T	170737206	2	4	62	1	0	0	0	0	0	0	0	1	16009	518	18	3		3	TLX3	5	170737206	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2535871	170737206	10178054	509	12877											
UBTD2	92181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	171661284	171661284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatccctcttgctgcgtAgttgtccatctgtcatagga	8	11	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:171661284A>G	ENST00000393792.2	-	2	554	c.149T>C	c.(148-150)cTa>cCa	p.L50P		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	50						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGCGTAGTTGTCCATC	0.433																																					p.L50P		.											.	UBTD2-90	0			c.T149C						.						169	152	158					5																	171661284		2203	4300	6503	SO:0001583	missense	92181	exon2			CTGCGTAGTTGTC	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.149T>C	5.37:g.171661284A>G	ENSP00000377381:p.Leu50Pro	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	131	59	NM_152277	0	0	7	12	5	Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366732	0.82463	.	.	ENSG00000168246	ENST00000393792	T	0.66280	-0.2	5.64	5.64	0.86602	.	0.147481	0.46758	D	0.000278	D	0.83289	0.5222	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.87321	0.2318	10	0.87932	D	0	.	13.8234	0.63336	1.0:0.0:0.0:0.0	.	50	Q8WUN7	UBTD2_HUMAN	P	50	ENSP00000377381:L50P	ENSP00000377381:L50P	L	-	2	0	UBTD2	171593889	1.000000	0.71417	0.972000	0.41901	0.962000	0.63368	9.121000	0.94375	2.144000	0.66660	0.533000	0.62120	CTA	.		0.433	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		G	171661284	A	G	171661284	3	3	62	1	0	0	0	0	1	0	0	0	16957	420	15	4	563	4	UBTD2	5	171661284	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	924078	171661284	9253976	510	12878											
MSX2	4488	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	174152037	174152037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggccgatattcgccgccGccaagtgagtgcgcgccggg	15	16	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:174152037G>A	ENST00000239243.6	+	1	502	c.375G>A	c.(373-375)ccG>ccA	p.P125P	MSX2_ENST00000507785.1_Silent_p.P125P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	125					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|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)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATTCGCCGCCGCCAAGTGAGT	0.672																																					p.P125P		.											.	MSX2-90	0			c.G375A						.						10	15	14					5																	174152037		1952	3857	5809	SO:0001819	synonymous_variant	4488	exon1			GCCGCCGCCAAGT	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.375G>A	5.37:g.174152037G>A		Somatic	186	0		WXS	Illumina GAIIx	Phase_I	297	144	NM_002449	0	0	0	0	0	D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	CCDS4392.1																																																																																			.		0.672	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			A	174152037	G	A	174152037	2	1	62	1	0	0	0	0	0	0	0	1	9934	1074	38	1		1	MSX2	5	174152037	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2490753	174152037	6763223	511	12879											
CLTB	1212	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	175824632	175824632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatcttgttcttctctActtgttcactctggcgctgg	9	10	5	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:175824632A>G	ENST00000310418.4	-	4	645	c.440T>C	c.(439-441)gTa>gCa	p.V147A	CLTB_ENST00000345807.2_Missense_Mutation_p.V147A	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592																																					p.V147A		.											.	CLTB-90	0			c.T440C						.						197	177	184					5																	175824632		2203	4300	6503	SO:0001583	missense	1212	exon4			TTCTCTACTTGTT	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.440T>C	5.37:g.175824632A>G	ENSP00000309415:p.Val147Ala	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	83	37	NM_001834	1	0	445	992	546	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	a	16.94	3.260785	0.59431	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.16	4.16	0.48862	.	0.095072	0.64402	D	0.000001	T	0.41073	0.1143	N	0.24115	0.695	0.37800	D	0.92766	B;B	0.13145	0.007;0.007	B;B	0.16289	0.011;0.015	T	0.33574	-0.9863	9	0.15066	T	0.55	.	13.2153	0.59856	1.0:0.0:0.0:0.0	.	147;147	P09497-2;P09497	.;CLCB_HUMAN	A	147	.	ENSP00000309415:V147A	V	-	2	0	CLTB	175757238	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.281000	0.95811	1.508000	0.48769	0.248000	0.18094	GTA	.		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			G	175824632	A	G	175824632	3	3	62	1	0	0	0	0	1	0	0	0	3572	391	14	4	261	4	CLTB	5	175824632	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1672595	175824632	5090628	512	12880											
AGXT2L2	85007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	177649506	177649506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggagctggaaggcccaGaagtgcttgcctacccggcc	13	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:177649506G>T	ENST00000308158.5	-	8	1011	c.777C>A	c.(775-777)ttC>ttA	p.F259L	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	259						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GGAAGGCCCAGAAGTGCTTGC	0.602																																					p.F259L		.											.	AGXT2L2-91	0			c.C777A						.						86	93	91					5																	177649506		2203	4300	6503	SO:0001583	missense	85007	exon8			GGCCCAGAAGTGC	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.777C>A	5.37:g.177649506G>T	ENSP00000310978:p.Phe259Leu	Somatic	368	1		WXS	Illumina GAIIx	Phase_I	434	189	NM_153373	0	0	7	8	1	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501548	0.85176	.	.	ENSG00000175309	ENST00000308158	D	0.84146	-1.81	5.34	4.46	0.54185	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.109676	0.64402	D	0.000003	D	0.86285	0.5896	L	0.60012	1.86	0.80722	D	1	P;P	0.52316	0.904;0.952	P;P	0.53954	0.692;0.738	D	0.86163	0.1595	10	0.66056	D	0.02	-15.0316	7.8478	0.29435	0.1911:0.0:0.8089:0.0	.	259;259	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	L	259	ENSP00000310978:F259L	ENSP00000310978:F259L	F	-	3	2	AGXT2L2	177582112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.367000	0.44213	1.374000	0.46228	0.563000	0.77884	TTC	.		0.602	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		T	177649506	G	T	177649506	3	4	62	1	0	0	0	0	1	0	0	0	407	933	33	3	595	3	AGXT2L2	5	177649506	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1824874	177649506	3265754	513	12881											
ZNF454	285676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178392351	178392351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgcagggcacaccttAccaaacaccagaatatccac	7	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:178392351A>G	ENST00000320129.3	+	5	1249	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	ZNF454_ENST00000519564.1_Missense_Mutation_p.T316A	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGCACACCTTACCAAACACCA	0.388																																					p.T316A		.											.	ZNF454-93	0			c.A946G						.						53	57	56					5																	178392351		2203	4300	6503	SO:0001583	missense	285676	exon5			CACCTTACCAAAC	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.946A>G	5.37:g.178392351A>G	ENSP00000326249:p.Thr316Ala	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	67	24	NM_001178089	0	0	0	0	0	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	A	7.274	0.607814	0.14002	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07216	3.21;3.21	4.11	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.176168	0.27509	N	0.019060	T	0.05135	0.0137	N	0.20766	0.605	0.24291	N	0.995167	B	0.26400	0.148	B	0.28553	0.091	T	0.42882	-0.9425	10	0.18710	T	0.47	-5.8898	7.7693	0.28999	0.8974:0.0:0.1026:0.0	.	316	Q8N9F8	ZN454_HUMAN	A	316	ENSP00000326249:T316A;ENSP00000430354:T316A	ENSP00000326249:T316A	T	+	1	0	ZNF454	178324957	0.000000	0.05858	1.000000	0.80357	0.010000	0.07245	0.656000	0.24948	0.748000	0.32831	-0.361000	0.07541	ACC	.		0.388	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		G	178392351	A	G	178392351	3	3	62	1	0	0	0	0	1	0	0	0	17971	391	14	4	960	4	ZNF454	5	178392351	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	742845	178392351	2522909	514	12882											
ZNF354C	30832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	178507040	178507040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaacctttcatctgcaGctcctcacttacccagtatc	6	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:178507040G>A	ENST00000315475.6	+	5	1913	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TTCATCTGCAGCTCCTCACTT	0.378																																					p.S536N		.											.	ZNF354C-91	0			c.G1607A						.						79	84	82					5																	178507040		2203	4300	6503	SO:0001583	missense	30832	exon5			TCTGCAGCTCCTC		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.1607G>A	5.37:g.178507040G>A	ENSP00000324064:p.Ser536Asn	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	113	50	NM_014594	0	0	2	3	1	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600727	0.13939	.	.	ENSG00000177932	ENST00000315475	T	0.61274	0.12	3.76	3.76	0.43208	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47322	0.1439	L	0.50919	1.6	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.23976	-1.0173	9	0.24483	T	0.36	-0.568	7.3262	0.26557	0.1203:0.0:0.8797:0.0	.	536	Q86Y25	Z354C_HUMAN	N	536	ENSP00000324064:S536N	ENSP00000324064:S536N	S	+	2	0	ZNF354C	178439646	0.035000	0.19736	0.020000	0.16555	0.015000	0.08874	0.352000	0.20113	2.072000	0.62099	0.591000	0.81541	AGC	.		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			A	178507040	G	A	178507040	3	1	62	1	0	0	0	0	1	0	0	0	17914	971	34	3	1621	3	ZNF354C	5	178507040	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	114689	178507040	2408220	515	12883											
BTNL9	153579	hgsc.bcm.edu	37	chr5	180486404	180486404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggttctccgccggccgcCactactgggaggtgcacgtg	15	14	1	0	rs186444058	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180486404C>T	ENST00000327705.9	+	11	1381	c.1150C>T	c.(1150-1152)Cac>Tac	p.H384Y	BTNL9_ENST00000376842.3_Missense_Mutation_p.H385Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCGGCCGCCACTACTGGGA	0.796													C|||	19	0.00379393	0	0.0101	5008	,	,		8064	0		0.0089	False		,,,				2504	0.0031				p.H384Y		.											.	BTNL9-91	0			c.C1150T						.						1	2	1					5																	180486404		836	1977	2813	SO:0001583	missense	153579	exon11			GGCCGCCACTACT	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.1150C>T	5.37:g.180486404C>T	ENSP00000330200:p.His384Tyr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	12	NM_152547	0	0	1	2	1	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	38	0.0173992673992674	7	0.014227642276422764	5	0.013812154696132596	5	0.008741258741258742	21	0.027704485488126648	c	21.1	4.096472	0.76870	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.68479	-0.33;-0.33	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.217602	0.23321	U	0.049449	T	0.65575	0.2704	M	0.76938	2.355	0.30133	N	0.804617	B	0.28233	0.204	P	0.55615	0.78	T	0.75714	-0.3221	10	0.48119	T	0.1	.	15.5784	0.76410	0.0:1.0:0.0:0.0	.	384	Q6UXG8	BTNL9_HUMAN	Y	384;385	ENSP00000330200:H384Y;ENSP00000366038:H385Y	ENSP00000330200:H384Y	H	+	1	0	BTNL9	180419010	0.959000	0.32827	1.000000	0.80357	0.530000	0.34684	2.310000	0.43708	2.365000	0.80145	0.298000	0.19748	CAC	C|0.983;T|0.017		0.796	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180486404	C	T	180486404	3	4	62	1	0	0	0	0	1	0	0	0	1572	594	21	3	1188	3	BTNL9	5	180486404	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1979364	180486404	428856	516	12884											
OR2V2	285659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	180582175	180582175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgttggtctgtaccaAtgtgccaaagatggcagcca	10	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180582175A>C	ENST00000328275.1	+	1	233	c.233A>C	c.(232-234)aAt>aCt	p.N78T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	78						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)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTGTACCAATGTGCCAAAG	0.517																																					p.N78T		.											.	OR2V2-69	0			c.A233C						.						170	162	165					5																	180582175		2203	4300	6503	SO:0001583	missense	285659	exon1			GTACCAATGTGCC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.233A>C	5.37:g.180582175A>C	ENSP00000332185:p.Asn78Thr	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	190	69	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.051	-1.249584	0.01469	.	.	ENSG00000182613	ENST00000328275	T	0.00864	5.6	3.38	-5.25	0.02781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001277	T	0.00144	0.0004	N	0.00028	-2.635	0.09310	N	0.999994	B	0.34181	0.44	B	0.24006	0.05	T	0.46289	-0.9202	10	0.02654	T	1	.	1.6168	0.02705	0.2242:0.4018:0.1025:0.2715	.	78	Q96R30	OR2V2_HUMAN	T	78	ENSP00000332185:N78T	ENSP00000332185:N78T	N	+	2	0	OR2V2	180514781	0.000000	0.05858	0.559000	0.28332	0.874000	0.50279	-1.860000	0.01656	-0.663000	0.05331	0.254000	0.18369	AAT	.		0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			C	180582175	A	C	180582175	3	2	62	1	0	0	0	0	1	0	0	0	11070	101	4	5	235	5	OR2V2	5	180582175	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	95771	180582175	333085	517	12885											
OR2V2	285659	hgsc.bcm.edu;broad.mit.edu	37	chr5	180582745	180582745	+	Frame_Shift_Del	DEL	C	C	-													gaggcctaggcactaccgggCccccagccatgacaaggtgg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180582745delC	ENST00000328275.1	+	1	803	c.803delC	c.(802-804)gccfs	p.A268fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTACCGGGCCCCCAGCCAT	0.582																																					p.A268fs		.											.	OR2V2-69	0			c.803delC						.						50	51	51					5																	180582745		2203	4300	6503	SO:0001589	frameshift_variant	285659	exon1			ACCGGGCCCCCAG	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.803delC	5.37:g.180582745delC	ENSP00000332185:p.Ala268fs	Somatic	277	0		WXS	Illumina GAIIx	Phase_I	344	23	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Frame_Shift_Del	DEL	ENST00000328275.1	37	CCDS4461.1																																																																																			.		0.582	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			-	180582745	C	-	180582745	7	5	62	1	0	1	0	1	0	0	0	0	11070	739	26	0	805	0	OR2V2	5	180582745	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	570	180582745	332515	518	12886											
SERPINB1	1992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	2836398	2836398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgaatttatccttccAgtttcccttgaaatagatgg	6	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:2836398A>G	ENST00000380739.5	-	5	713	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_Missense_Mutation_p.W20R	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	171					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTATCCTTCCAGTTTCCCTTG	0.393																																					p.W171R		.											.	SERPINB1-292	0			c.T511C						.						136	130	132					6																	2836398		2203	4300	6503	SO:0001583	missense	1992	exon5			CCTTCCAGTTTCC	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.511T>C	6.37:g.2836398A>G	ENSP00000370115:p.Trp171Arg	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	70	28	NM_030666	0	0	8	25	17	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441669	0.83993	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;T	0.41065	1.01;1.5	5.36	5.36	0.76844	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84284	0.0496	10	0.87932	D	0	.	14.8304	0.70142	1.0:0.0:0.0:0.0	.	171	P30740	ILEU_HUMAN	R	171;133;20	ENSP00000370115:W171R;ENSP00000444543:W20R	ENSP00000370115:W171R	W	-	1	0	SERPINB1	2781397	1.000000	0.71417	0.801000	0.32222	0.873000	0.50193	8.998000	0.93550	2.167000	0.68274	0.533000	0.62120	TGG	.		0.393	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			G	2836398	A	G	2836398	3	3	62	1	0	0	0	0	1	0	0	0	14141	188	7	4	640	4	SERPINB1	6	2836398	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10		2836398	168278669	519	12887											
FARS2	10667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	5369294	5369294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaccagtgggacttgcTgcacgcgggactggatgcct	14	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:5369294T>C	ENST00000324331.6	+	2	827	c.491T>C	c.(490-492)cTg>cCg	p.L164P	FARS2_ENST00000274680.4_Missense_Mutation_p.L164P			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	164					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)	TGGGACTTGCTGCACGCGGGA	0.582																																					p.L164P		.											.	FARS2-90	0			c.T491C						.						124	113	117					6																	5369294		2203	4300	6503	SO:0001583	missense	10667	exon2			ACTTGCTGCACGC	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.491T>C	6.37:g.5369294T>C	ENSP00000316335:p.Leu164Pro	Somatic	96	1		WXS	Illumina GAIIx	Phase_I	136	60	NM_006567	0	0	14	23	9	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355135	0.82243	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331	T;T	0.73469	-0.75;-0.75	5.68	5.68	0.88126	Phenylalanyl-tRNA synthetase (1);	0.492911	0.23479	N	0.047731	D	0.86694	0.5994	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89475	0.3746	10	0.87932	D	0	-20.3011	15.3969	0.74801	0.0:0.0:0.0:1.0	.	164	O95363	SYFM_HUMAN	P	164;14;164	ENSP00000274680:L164P;ENSP00000316335:L164P	ENSP00000274680:L164P	L	+	2	0	FARS2	5314293	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	7.670000	0.83925	2.289000	0.77006	0.533000	0.62120	CTG	.		0.582	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		C	5369294	T	C	5369294	3	2	62	1	0	0	0	0	1	0	0	0	5700	1580	55	4	493	4	FARS2	6	5369294	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2532896	5369294	165745773	520	12888											
DSP	1832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	7585739	7585739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggaggataagcaccgaAgaagccatccggaaggggtt	15	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:7585739A>G	ENST00000379802.3	+	24	8585	c.8244A>G	c.(8242-8244)gaA>gaG	p.E2748E	DSP_ENST00000418664.2_Silent_p.E2149E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2748	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAGCACCGAAGAAGCCATCC	0.557																																					p.E2748E		.											.	DSP-518	0			c.A8244G						.						65	70	69					6																	7585739		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon24			CACCGAAGAAGCC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8244A>G	6.37:g.7585739A>G		Somatic	271	2		WXS	Illumina GAIIx	Phase_I	367	144	NM_004415	0	0	5	22	17	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			.		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7585739	A	G	7585739	2	3	62	1	0	0	0	0	0	0	0	1	4795	69	3	4		4	DSP	6	7585739	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2216445	7585739	163529328	521	12889											
BMP6	654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	7880448	7880448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttatgaaccccgagTatgtccccaaaccgtgctgt	7	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:7880448T>C	ENST00000283147.6	+	7	1573	c.1414T>C	c.(1414-1416)Tat>Cat	p.Y472H		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)					GAACCCCGAGTATGTCCCCAA	0.433																																					p.Y472H		.											.	BMP6-578	0			c.T1414C						.						184	194	191					6																	7880448		2203	4300	6503	SO:0001583	missense	654	exon7			CCCGAGTATGTCC	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.1414T>C	6.37:g.7880448T>C	ENSP00000283147:p.Tyr472His	Somatic	217	0		WXS	Illumina GAIIx	Phase_I	289	111	NM_001718	0	0	5	5	0	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344307	0.24339	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.83506	-1.73	5.65	5.65	0.86999	Transforming growth factor-beta, C-terminal (3);	0.051940	0.85682	D	0.000000	T	0.45316	0.1336	N	0.03050	-0.425	0.49687	D	0.99981	B	0.11235	0.004	B	0.17979	0.02	T	0.50346	-0.8839	10	0.13853	T	0.58	.	11.6093	0.51049	0.1332:0.0:0.0:0.8668	.	472	P22004	BMP6_HUMAN	H	394;472;435	ENSP00000283147:Y472H	ENSP00000283147:Y472H	Y	+	1	0	BMP6	7825447	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.031000	0.49728	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		C	7880448	T	C	7880448	3	2	62	1	0	0	0	0	1	0	0	0	1466	1638	57	4	1440	4	BMP6	6	7880448	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	294709	7880448	163234619	522	12890											
MUTED	63915	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	8041439	8041439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaagagtatgttcattTgtttcatggatcatgttctt	10	4	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:8041439T>C	ENST00000397457.2	-	3	295	c.258A>G	c.(256-258)acA>acG	p.T86T	BLOC1S5_ENST00000543936.1_Silent_p.T22T|EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5-TXNDC5_ENST00000439343.2_Silent_p.T82T	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	86					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TATGTTCATTTGTTTCATGGA	0.373																																					p.T86T		.											.	.	0			c.A258G						.						135	130	132					6																	8041439		2203	4300	6503	SO:0001819	synonymous_variant	63915	exon3			TTCATTTGTTTCA	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"Biogenesis of lysosomal organelles complex-1 subunits"	18561	protein-coding gene	gene with protein product		607289	"muted homolog (mouse)"	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.258A>G	6.37:g.8041439T>C		Somatic	47	1		WXS	Illumina GAIIx	Phase_I	76	41	NM_201280	0	0	10	20	10	B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Silent	SNP	ENST00000397457.2	37	CCDS4506.1																																																																																			.		0.373	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2	NM_201280		C	8041439	T	C	8041439	2	2	62	1	0	0	0	0	0	0	0	1	10030	1799	63	4		4	MUTED	6	8041439	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	160991	8041439	163073628	523	12891											
GCNT2	2651	broad.mit.edu	37	chr6	10556944	10556944	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgactttcccttggcAtatataatggtcatccatca	7	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:10556944A>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Silent_p.A96A|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						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)		TTCCCTTGGCATATATAATGG	0.418																																					p.A96A		.											.	GCNT2-92	0			c.A288G						.						111	103	106					6																	10556944		2203	4300	6503	SO:0001627	intron_variant	2651	exon1			CTTGGCATATATA	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.925+26875A>G	6.37:g.10556944A>G		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	111	6	NM_001491	0	0	0	0	0		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																			.		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		G	10556944	A	G	10556944	1	3	62	0	1	0	0	0	0	0	0	0	6326	204	8	4		4	GCNT2	6	10556944	Intron	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2515505	10556944	160558123	524	12892											
KDM1B	221656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	18215282	18215282	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgattgccggggaggctgtCgcatccgtgaggaccctgga	17	10	0	2	rs144521010	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:18215282C>T	ENST00000297792.5	+	16	1635	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	KDM1B_ENST00000388870.2_Silent_p.V719V|KDM1B_ENST00000546309.2_Silent_p.V9V|KDM1B_ENST00000397244.1_Silent_p.V487V			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	718					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.V486V(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGGAGGCTGTCGCATCCGTGA	0.572													C|||	17	0.00339457	0.0113	0.0029	5008	,	,		17368	0		0	False		,,,				2504	0				p.V486V		.											.	KDM1B-91	1	Substitution - coding silent(1)	breast(1)	c.C1458T						.	C		34,4372	40.8+/-73.8	0,34,2169	78	72	74		1458	-3.4	0.3	6	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KDM1B	NM_153042.3		0,36,6467	TT,TC,CC		0.0233,0.7717,0.2768		486/591	18215282	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	221656	exon16			GGCTGTCGCATCC	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1458C>T	6.37:g.18215282C>T		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	99	30	NM_153042	0	0	28	57	29	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	CCDS34343.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	1.844	-0.466755	0.04476	0.007717	2.33E-4	ENSG00000165097	ENST00000449850	.	.	.	5.99	-3.44	0.04796	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	-16.9394	1.9129	0.03291	0.2304:0.1763:0.4169:0.1763	.	.	.	.	L	536	.	.	S	+	2	0	KDM1B	18323261	0.482000	0.25948	0.341000	0.25589	0.156000	0.22039	-0.208000	0.09371	-0.586000	0.05898	-0.839000	0.03059	TCG	C|0.998;T|0.002		0.572	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		T	18215282	C	T	18215282	2	4	62	1	0	0	0	0	0	0	0	1	8150	871	31	1		1	KDM1B	6	18215282	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7658338	18215282	152899785	525	12893											
HIST1H2BE	8344	hgsc.bcm.edu;bcgsc.ca	37	chr6	26184051	26184052	+	Frame_Shift_Ins	INS	-	-	C													gccagcgaaatccgctcccgINSccccgaagaagggctccaag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:26184051_26184052insC	ENST00000356530.3	+	1	94_95	c.28_29insC	c.(28-30)gccfs	p.A10fs		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	10					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCCGCTCCCGCCCCGAAGAAG	0.53																																					p.A10fs		.											.	HIST1H2BE-90	0			c.28_29insC						.																																			SO:0001589	frameshift_variant	8344	exon1			GCTCCCGCCCCGA	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.32dupC	6.37:g.26184055_26184055dupC	ENSP00000348924:p.Ala10fs	Somatic	197	2		WXS	Illumina GAIIx	Phase_I	244	95	NM_003523	0	0	0	0	0	P02278|Q3B872|Q4VB69|Q93078|Q93080	Frame_Shift_Ins	INS	ENST00000356530.3	37	CCDS4588.1																																																																																			.		0.53	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		C	26184052	-	C	26184051	7	5	62	1	0	1	1	0	0	0	0	0	7171	1087	38	0	30	0	HIST1H2BE	6	26184051	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	7968769	26184051	144931016	526	12894											
ZNF187	0	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	28244219	28244219	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaaactctgcgagtcTgatgtgtgtcagagttccag	13	7	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:28244219T>G								NKAPL (15483 upstream) : PGBD1 (5094 downstream)																							TCTGCGAGTCTGATGTGTGTC	0.453																																					p.S127S		.											.	.	0			c.T381G						.						80	74	76					6																	28244219		1934	4152	6086	SO:0001628	intergenic_variant	7741	exon4			CGAGTCTGATGTG																													6.37:g.28244219T>G		Somatic	78	1		WXS	Illumina GAIIx	Phase_I	116	44	NM_152736	0	0	2	8	6		Silent	SNP		37																																																																																				.	0	0.453									G	28244219	T	G	28244219	1	3	62	0	1	0	0	0	0	0	0	0	17801	1567	55	5		5	ZNF187	6	28244219	IGR	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2060168	28244219	142870848	527	12895											
RNF39	80352	hgsc.bcm.edu	37	chr6	30039373	30039373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttggggccgtcaggggGcgcgggcgtccctggtgggg	23	11	1	0	rs61754472	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:30039373G>C	ENST00000244360.6	-	4	875	c.778C>G	c.(778-780)Ccc>Gcc	p.P260A	RNF39_ENST00000376751.3_Missense_Mutation_p.P260A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	260	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CCGTCAGGGGGCGCGGGCGTC	0.736													g|||	121	0.0241613	0.0045	0.0663	5008	,	,		11328	0.0357		0.0149	False		,,,				2504	0.0184				p.P260A	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.C778G						.		ALA/PRO,ALA/PRO	6,2398		0,6,1196	2	2	2		778,778	4.7	0	6	dbSNP_129	2	48,4134		0,48,2043	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	27,27	0,54,3239	CC,CG,GG		1.1478,0.2496,0.8199	possibly-damaging,possibly-damaging	260/421,260/355	30039373	54,6532	1202	2091	3293	SO:0001583	missense	80352	exon4			CAGGGGGCGCGGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.778C>G	6.37:g.30039373G>C	ENSP00000244360:p.Pro260Ala	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	16	14	NM_025236	0	0	4	4	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	74	0.03388278388278388	4	0.008130081300813009	28	0.07734806629834254	30	0.05244755244755245	12	0.0158311345646438	g	11.90	1.775599	0.31411	0.002496	0.011478	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10005	2.92;2.92	4.7	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.43919	D	0.000507	T	0.10766	0.0263	L	0.28014	0.82	0.09310	N	1	D;P	0.56035	0.974;0.728	D;B	0.62955	0.909;0.42	T	0.05699	-1.0869	10	0.52906	T	0.07	-26.5225	15.5749	0.76368	0.0:0.0:1.0:0.0	rs61754472	260;260	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	A	260	ENSP00000365942:P260A;ENSP00000244360:P260A	ENSP00000244360:P260A	P	-	1	0	RNF39	30147352	0.994000	0.37717	0.021000	0.16686	0.029000	0.11900	4.595000	0.61048	2.339000	0.79563	0.466000	0.42574	CCC	G|0.966;C|0.034		0.736	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		C	30039373	G	C	30039373	3	2	62	1	0	0	0	0	1	0	0	0	13536	1203	42	3	488	3	RNF39	6	30039373	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1795154	30039373	141075694	528	12896											
C6orf15	29113	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31079664	31079664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtgagaggcctgtggcatCgggagaagactccccaggca	17	10	0	3	rs560033699		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31079664C>T	ENST00000259870.3	-	2	475	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	158					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCTGTGGCATCGGGAGAAGAC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16641	0		0	False		,,,				2504	0				p.D158N		.											.	C6orf15-90	0			c.G472A						.																																			SO:0001583	missense	29113	exon2			TGGCATCGGGAGA	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.472G>A	6.37:g.31079664C>T	ENSP00000259870:p.Asp158Asn	Somatic	83	1		WXS	Illumina GAIIx	Phase_I	125	57	NM_014070	0	0	0	0	0	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	3.947	-0.012984	0.07727	.	.	ENSG00000204542	ENST00000259870	T	0.05717	3.4	4.73	-2.14	0.07123	.	1.977070	0.02551	N	0.095725	T	0.00695	0.0023	N	0.22421	0.69	0.09310	N	1	P	0.36660	0.564	B	0.22386	0.039	T	0.38714	-0.9648	10	0.06494	T	0.89	-2.8946	1.2523	0.01985	0.2753:0.3092:0.2822:0.1334	.	158	Q6UXA7	CF015_HUMAN	N	158	ENSP00000259870:D158N	ENSP00000259870:D158N	D	-	1	0	C6orf15	31187643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.151000	0.10175	-0.285000	0.09089	-0.178000	0.13098	GAT	C|1.000;G|0.000		0.632	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		T	31079664	C	T	31079664	3	4	62	1	0	0	0	0	1	0	0	0	2343	884	31	1	509	1	C6orf15	6	31079664	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1040291	31079664	140035403	529	12897											
CCHCR1	54535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31112778	31112778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagccccaagctagccaggGactcctgggtctgctgcagc	13	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31112778G>A	ENST00000376266.5	-	14	1804	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	CCHCR1_ENST00000396268.3_Missense_Mutation_p.S650F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S508F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S614F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	561					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCTAGCCAGGGACTCCTGGGT	0.677																																					p.S650F		.											.	CCHCR1-91	0			c.C1949T						.						36	37	37					6																	31112778		2203	4300	6503	SO:0001583	missense	54535	exon14			GCCAGGGACTCCT	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1682C>T	6.37:g.31112778G>A	ENSP00000365442:p.Ser561Phe	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	64	23	NM_001105564	0	0	15	27	12	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894625	0.52121	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.92	3.09	0.35607	.	0.975694	0.08407	N	0.950521	T	0.08802	0.0218	M	0.67953	2.075	0.32963	D	0.521283	D;D;D;D;D	0.69078	0.989;0.997;0.976;0.994;0.986	P;D;P;P;P	0.64321	0.9;0.924;0.787;0.9;0.839	T	0.06197	-1.0840	10	0.62326	D	0.03	-2.2249	10.2691	0.43473	0.0:0.0:0.6407:0.3593	.	561;561;561;614;650	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	F	650;561;508;561;614	ENSP00000379566:S650F;ENSP00000365442:S561F;ENSP00000379561:S508F;ENSP00000401039:S614F	ENSP00000365442:S561F	S	-	2	0	CCHCR1	31220757	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.770000	0.55310	0.463000	0.27118	-0.335000	0.08231	TCC	.		0.677	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		A	31112778	G	A	31112778	3	1	62	1	0	0	0	0	1	0	0	0	2884	1174	41	3	686	3	CCHCR1	6	31112778	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	33114	31112778	140002289	530	12898											
VARS	7407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	31747403	31747403	+	Frame_Shift_Del	DEL	G	G	-													acctctgagggctccgggtaGggggtaacacagaggctagg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31747403delG	ENST00000375663.3	-	27	3710	c.3270delC	c.(3268-3270)cccfs	p.P1090fs	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375686.3_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1090					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTCCGGGTAGGGGGTAACAC	0.662																																					p.P1090fs		.											.	VARS-93	0			c.3270delC						.						31	39	36					6																	31747403		1506	2706	4212	SO:0001589	frameshift_variant	7407	exon27			CGGGTAGGGGGTA	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.3270delC	6.37:g.31747403delG	ENSP00000364815:p.Pro1090fs	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	127	58	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.662	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		-	31747403	G	-	31747403	7	5	62	1	0	1	0	1	0	0	0	0	17172	987	35	0	540	0	VARS	6	31747403	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	634625	31747403	139367664	531	12899											
C4A	721	bcgsc.ca;mdanderson.org	37	chr6	31994861	31994861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgagcagctggagctgCggcctgtcctctataactac	11	12	1	1	rs201414896		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31994861C>T	ENST00000435363.2	+	20	2638	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	C4B_ENST00000425700.2_Missense_Mutation_p.R852W	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	852					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GCTGGAGCTGCGGCCTGTCCT	0.627																																					p.R852W		.											.	C4A-44	0			c.C2554T						.						32	27	29					6																	31994861		2134	3925	6059	SO:0001583	missense	720	exon20			GAGCTGCGGCCTG	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.2554C>T	6.37:g.31994861C>T	ENSP00000415941:p.Arg852Trp	Somatic	281	0		WXS	Illumina GAIIx	Phase_I	389	212	NM_007293	0	0	27	107	80	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.976013	0.74360	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.27402	1.67;1.67	4.4	4.4	0.53042	.	0.487271	0.19212	N	0.119898	T	0.50837	0.1639	M	0.88105	2.93	0.38815	D	0.955512	D;D	0.76494	0.994;0.999	P;D	0.67900	0.888;0.954	T	0.61797	-0.6989	10	0.87932	D	0	.	12.565	0.56304	0.0:1.0:0.0:0.0	.	852;852	F5GXS0;Q6U2E9	.;.	W	852	ENSP00000415941:R852W;ENSP00000391933:R852W	ENSP00000391933:R852W	R	+	1	2	C4B	32102839	0.838000	0.29461	0.988000	0.46212	0.966000	0.64601	1.948000	0.40303	2.003000	0.58678	0.558000	0.71614	CGG	C|0.999;T|0.001		0.627	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		T	31994861	C	T	31994861	3	4	62	1	0	0	0	0	1	0	0	0	2254	759	27	1	7694	1	C4A	6	31994861	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	247458	31994861	139120206	532	12900											
C4A	721	bcgsc.ca	37	chr6	31997544	31997544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggctcacccgtcaggGcagcttccaagggggattcc	14	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31997544G>A	ENST00000435363.2	+	29	3962	c.3878G>A	c.(3877-3879)gGc>gAc	p.G1293D	C4B_ENST00000425700.2_Missense_Mutation_p.G1293D|C4B-AS1_ENST00000415626.1_RNA	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1293					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	ACCCGTCAGGGCAGCTTCCAA	0.647																																					p.G1293D		.											.	C4A-44	0			c.G3878A						.						63	64	63					6																	31997544		1509	2706	4215	SO:0001583	missense	720	exon29			GTCAGGGCAGCTT	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3878G>A	6.37:g.31997544G>A	ENSP00000415941:p.Gly1293Asp	Somatic	406	6		WXS	Illumina GAIIx	Phase_I	456	103	NM_007293	0	0	51	206	155	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118469	0.37339	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.13657	2.57;2.57	4.76	-1.58	0.08479	.	0.430599	0.24325	N	0.039502	T	0.14485	0.0350	M	0.78916	2.43	0.19945	N	0.999944	B;P	0.35107	0.132;0.484	B;P	0.48334	0.204;0.574	T	0.27673	-1.0067	10	0.32370	T	0.25	.	16.9679	0.86291	0.0:0.6385:0.3615:0.0	.	1293;1293	F5GXS0;Q6U2E9	.;.	D	1293	ENSP00000415941:G1293D;ENSP00000391933:G1293D	ENSP00000391933:G1293D	G	+	2	0	C4B	32105523	0.840000	0.29493	0.209000	0.23619	0.929000	0.56500	0.650000	0.24858	-0.179000	0.10654	0.551000	0.68910	GGC	.		0.647	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		A	31997544	G	A	31997544	3	1	62	1	0	0	0	0	1	0	0	0	2254	1203	42	3	8717	3	C4A	6	31997544	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2683	31997544	139117523	533	12901											
TNXB	7148	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32012914	32012914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgccgtccacgagcaagGcctggggctgcccgttcgtg	16	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32012914G>A	ENST00000375244.3	-	32	10997	c.10796C>T	c.(10795-10797)gCc>gTc	p.A3599V	TNXB_ENST00000375247.2_Missense_Mutation_p.A3597V|TNXB_ENST00000451343.1_Missense_Mutation_p.A28V			P22105	TENX_HUMAN	tenascin XB	3644	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGAGCAAGGCCTGGGGCTG	0.632																																					p.A3597V		.											.	TNXB-90	0			c.C10790T						.						57	49	52					6																	32012914		1507	2706	4213	SO:0001583	missense	7148	exon32			AGCAAGGCCTGGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10796C>T	6.37:g.32012914G>A	ENSP00000364393:p.Ala3599Val	Somatic	354	2		WXS	Illumina GAIIx	Phase_I	452	95	NM_019105	0	0	59	78	19	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	g	18.22	3.574812	0.65878	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.56611	0.45;0.45;0.45	4.85	4.85	0.62838	.	0.000000	0.53938	D	0.000058	T	0.26810	0.0656	N	0.17312	0.475	0.27369	N	0.955737	P	0.48503	0.911	P	0.47573	0.55	T	0.06752	-1.0809	10	0.33141	T	0.24	.	12.0397	0.53446	0.0:0.0:0.8273:0.1727	.	3597	P22105-3	.	V	3599;28;3597	ENSP00000364393:A3599V;ENSP00000407685:A28V;ENSP00000364396:A3597V	ENSP00000364393:A3599V	A	-	2	0	TNXB	32120892	0.931000	0.31567	1.000000	0.80357	0.981000	0.71138	1.338000	0.33873	2.526000	0.85167	0.651000	0.88453	GCC	.		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32012914	G	A	32012914	3	1	62	1	0	0	0	0	1	0	0	0	16393	1203	42	3	3975	3	TNXB	6	32012914	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	15370	32012914	139102153	534	12902											
HLA-DOB	3112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	32782355	32782355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtggggtcctctctgGgtacactgtcacctctggtt	13	11	3	0	rs201263357		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32782355G>A	ENST00000438763.2	-	3	481	c.385C>T	c.(385-387)Cca>Tca	p.P129S	TAP2_ENST00000452392.2_Missense_Mutation_p.P736S	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	129	Beta-2.|Ig-like C1-type.				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)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GTCCTCTCTGGGTACACTGTC	0.507																																					p.P129S		.											.	HLA-DOB-91	0			c.C385T						.						153	165	160					6																	32782355		1511	2709	4220	SO:0001583	missense	3112	exon3			TCTCTGGGTACAC		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.385C>T	6.37:g.32782355G>A	ENSP00000390020:p.Pro129Ser	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	163	58	NM_002120	0	0	3	3	0	B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	CCDS4754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.013937|4.013937	0.75161|0.75161	.|.	.|.	ENSG00000241106|ENSG00000241106;ENSG00000204267;ENSG00000250264	ENST00000447394|ENST00000438763;ENST00000556934;ENST00000452392	.|T;T	.|0.00622	.|6.16;6.16	3.96|3.96	3.09|3.09	0.35607|0.35607	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.437819|0.437819	0.24975|0.24975	N|N	0.034115|0.034115	T|T	0.01124|0.01124	0.0037|0.0037	M|M	0.78456|0.78456	2.415|2.415	0.19575|0.19575	N|N	0.999969|0.999969	.|D;B;D	.|0.89917	.|0.998;0.427;1.0	.|D;B;D	.|0.78314	.|0.947;0.174;0.991	T|T	0.47724|0.47724	-0.9095|-0.9095	6|10	.|0.59425	.|D	.|0.04	-21.3616|-21.3616	6.4616|6.4616	0.21960|0.21960	0.2141:0.0:0.7859:0.0|0.2141:0.0:0.7859:0.0	.|.	.|129;736;129	.|B7Z742;E7ENX8;P13765	.|.;.;DOB_HUMAN	L|S	112|129;736;736	.|ENSP00000390020:P129S;ENSP00000391806:P736S	.|ENSP00000390020:P129S	P|P	-|-	2|1	0|0	HLA-DOB|XXbac-BPG246D15.9;TAP2;HLA-DOB	32890333|32890333	0.899000|0.899000	0.30636|0.30636	0.023000|0.023000	0.16930|0.16930	0.886000|0.886000	0.51366|0.51366	1.595000|1.595000	0.36708|0.36708	1.247000|1.247000	0.43917|0.43917	0.643000|0.643000	0.83706|0.83706	CCC|CCA	.		0.507	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		A	32782355	G	A	32782355	3	1	62	1	0	0	0	0	1	0	0	0	7228	1232	43	3	452	3	HLA-DOB	6	32782355	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	769441	32782355	138332712	535	12903											
TAP1	6890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32820954	32820954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcccgagtttgtgccAcagggctgctgcgggcagtg	17	11	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32820954A>G	ENST00000354258.4	-	1	801	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	PSMB9_ENST00000374859.2_5'Flank|TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	214					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)	AGTTTGTGCCACAGGGCTGCT	0.682																																					p.W214R		.											.	TAP1-91	0			c.T640C						.						22	21	22					6																	32820954		1508	2707	4215	SO:0001583	missense	6890	exon1			TGTGCCACAGGGC		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.640T>C	6.37:g.32820954A>G	ENSP00000346206:p.Trp214Arg	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	145	59	NM_000593	0	0	26	37	11	Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869627	0.91587	.	.	ENSG00000168394	ENST00000354258	D	0.88201	-2.35	4.34	4.34	0.51931	.	4.615670	0.00883	N	0.002156	D	0.87815	0.6272	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.59221	0.854	T	0.77270	-0.2650	10	0.87932	D	0	-0.1846	9.8568	0.41090	1.0:0.0:0.0:0.0	.	214	Q03518	TAP1_HUMAN	R	214	ENSP00000346206:W214R	ENSP00000346206:W214R	W	-	1	0	TAP1	32928932	1.000000	0.71417	0.927000	0.36925	0.464000	0.32679	4.939000	0.63526	1.812000	0.52913	0.519000	0.50382	TGG	.		0.682	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		G	32820954	A	G	32820954	3	3	62	1	0	0	0	0	1	0	0	0	15597	159	6	4	1830	4	TAP1	6	32820954	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	38599	32820954	138294113	536	12904											
ZBTB22	9278	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33283545	33283545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctcatatgggccaaaGtcattggaggactcacagaa	9	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33283545G>T	ENST00000431845.2	-	2	1300	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D383E|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATGGGCCAAAGTCATTGGAGG	0.612																																					p.D383E		.											.	ZBTB22-69	0			c.C1149A						.						142	151	148					6																	33283545		2203	4300	6503	SO:0001583	missense	9278	exon2			GCCAAAGTCATTG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1149C>A	6.37:g.33283545G>T	ENSP00000407545:p.Asp383Glu	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	87	42	NM_001145338	0	0	20	29	9	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718869	0.48622	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08984	3.03;3.03	4.09	3.22	0.36961	.	0.000000	0.35585	N	0.003104	T	0.04407	0.0121	N	0.20685	0.6	0.47374	D	0.999403	D	0.76494	0.999	D	0.76071	0.987	T	0.31081	-0.9956	10	0.07175	T	0.84	.	7.5893	0.28012	0.1171:0.0:0.8829:0.0	.	383	O15209	ZBT22_HUMAN	E	383	ENSP00000404403:D383E;ENSP00000407545:D383E	ENSP00000404403:D383E	D	-	3	2	ZBTB22	33391523	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.764000	0.47613	0.935000	0.37341	-0.404000	0.06349	GAC	.		0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			T	33283545	G	T	33283545	3	4	62	1	0	0	0	0	1	0	0	0	17578	1020	36	3	759	3	ZBTB22	6	33283545	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	462591	33283545	137831522	537	12905											
KIFC1	3833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33373046	33373046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtgtttgaagagattGccatgcttgtccagtcagcc	11	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33373046G>A	ENST00000428849.2	+	7	1624	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	392	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGAAGAGATTGCCATGCTTGT	0.552																																					p.A392T		.											.	KIFC1-90	0			c.G1174A						.						96	98	97					6																	33373046		2203	4300	6503	SO:0001583	missense	3833	exon7			GAGATTGCCATGC	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1174G>A	6.37:g.33373046G>A	ENSP00000393963:p.Ala392Thr	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	84	34	NM_002263	0	0	25	32	7	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734688	0.48939	.	.	ENSG00000237649	ENST00000428849	T	0.75260	-0.92	5.04	-2.79	0.05841	Kinesin, motor domain (4);	0.253053	0.39834	N	0.001243	T	0.59142	0.2172	M	0.62016	1.91	0.42889	D	0.994199	B;B	0.30511	0.282;0.149	B;B	0.34038	0.174;0.122	T	0.61792	-0.6990	10	0.72032	D	0.01	-10.3585	15.6369	0.76961	0.0:0.0:0.2048:0.7952	.	384;392	B4E063;Q9BW19	.;KIFC1_HUMAN	T	392	ENSP00000393963:A392T	ENSP00000393963:A392T	A	+	1	0	KIFC1	33481024	0.005000	0.15991	0.921000	0.36526	0.990000	0.78478	0.047000	0.14056	-0.290000	0.09025	-0.397000	0.06425	GCC	.		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		A	33373046	G	A	33373046	3	1	62	1	0	0	0	0	1	0	0	0	8339	1319	46	3	1200	3	KIFC1	6	33373046	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	89501	33373046	137742021	538	12906											
CUTA	51596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33385290	33385290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgaccttctcgttgggGcaagtaacaaaggctgcaga	13	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33385290G>A	ENST00000488034.1	-	2	346	c.225C>T	c.(223-225)tgC>tgT	p.C75C	CUTA_ENST00000374496.3_Silent_p.C52C|CUTA_ENST00000494751.1_Silent_p.C52C|CUTA_ENST00000440279.3_Silent_p.C52C|CUTA_ENST00000374500.5_Silent_p.C94C|CUTA_ENST00000607266.1_Silent_p.C52C|CUTA_ENST00000488478.1_Silent_p.C75C|SYNGAP1_ENST00000418600.2_5'Flank|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000492510.1_5'Flank	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	75					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TCTCGTTGGGGCAAGTAACAA	0.617																																					p.C94C		.											.	CUTA-90	0			c.C282T						.						107	116	113					6																	33385290		2203	4300	6503	SO:0001819	synonymous_variant	51596	exon2			GTTGGGGCAAGTA	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.225C>T	6.37:g.33385290G>A		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	162	82	NM_001014433	0	2	507	790	281	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Silent	SNP	ENST00000488034.1	37	CCDS34433.1																																																																																			.		0.617	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		A	33385290	G	A	33385290	2	1	62	1	0	0	0	0	0	0	0	1	4071	1195	42	3		3	CUTA	6	33385290	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	12244	33385290	137729777	539	12907											
CUTA	51596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33385455	33385455	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgccggcatccaaacaaaAgacaggagcagagaggcctg	13	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33385455A>G	ENST00000488034.1	-	2	181	c.60T>C	c.(58-60)tcT>tcC	p.S20S	CUTA_ENST00000374496.3_5'UTR|CUTA_ENST00000494751.1_5'UTR|CUTA_ENST00000440279.3_5'UTR|CUTA_ENST00000374500.5_Silent_p.S39S|CUTA_ENST00000607266.1_5'UTR|CUTA_ENST00000488478.1_Silent_p.S20S|SYNGAP1_ENST00000418600.2_5'Flank|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000492510.1_5'Flank	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	20					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TCCAAACAAAAGACAGGAGCA	0.592																																					p.S39S		.											.	CUTA-90	0			c.T117C						.						31	36	34					6																	33385455		2202	4297	6499	SO:0001819	synonymous_variant	51596	exon2			AACAAAAGACAGG	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.60T>C	6.37:g.33385455A>G		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	74	29	NM_001014433	0	0	199	484	285	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Silent	SNP	ENST00000488034.1	37	CCDS34433.1																																																																																			.		0.592	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		G	33385455	A	G	33385455	2	3	62	1	0	0	0	0	0	0	0	1	4071	59	3	4		4	CUTA	6	33385455	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	165	33385455	137729612	540	12908											
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33657170	33657170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgggcccacactcaacAtcctgggtgccctcaatgtg	10	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33657170A>T	ENST00000374316.5	+	51	7910	c.6850A>T	c.(6850-6852)Atc>Ttc	p.I2284F	ITPR3_ENST00000605930.1_Missense_Mutation_p.I2284F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2284					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)	CACACTCAACATCCTGGGTGC	0.607																																					p.I2284F		.											.	ITPR3-1085	0			c.A6850T						.						73	64	67					6																	33657170		2203	4300	6503	SO:0001583	missense	3710	exon50			CTCAACATCCTGG	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.6850A>T	6.37:g.33657170A>T	ENSP00000363435:p.Ile2284Phe	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	82	35	NM_002224	0	0	4	19	15	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933099	0.52866	.	.	ENSG00000096433	ENST00000374316	D	0.92099	-2.97	5.07	5.07	0.68467	.	0.183274	0.47093	D	0.000251	D	0.86003	0.5829	L	0.47716	1.5	0.58432	D	0.999994	P;P	0.46784	0.605;0.884	B;P	0.44860	0.405;0.462	D	0.86677	0.1914	10	0.45353	T	0.12	-37.8167	10.2673	0.43462	0.8526:0.0:0.0:0.1474	.	2284;1954	Q14573;Q59ES2	ITPR3_HUMAN;.	F	2284	ENSP00000363435:I2284F	ENSP00000363435:I2284F	I	+	1	0	ITPR3	33765148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.700000	0.47085	2.143000	0.66587	0.459000	0.35465	ATC	.		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33657170	A	T	33657170	3	4	62	1	0	0	0	0	1	0	0	0	7949	217	8	5	7048	5	ITPR3	6	33657170	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	271715	33657170	137457897	541	12909											
ANKS1A	23294	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-													tacaaaagaagtagataaaaCccccccaccccagccacctc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)accfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318					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						GTAGATAAAACCCCCCCACCC	0.418																																					p.T318fs		.											.	ANKS1A-94	0			c.953delC						.						130	152	144					6																	34951143		2203	4300	6503	SO:0001589	frameshift_variant	23294	exon7			ATAAAACCCCCCC	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.953delC	6.37:g.34951143delC	ENSP00000353518:p.Thr318fs	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	26	11	NM_015245	0	0	0	0	0	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Frame_Shift_Del	DEL	ENST00000360359.3	37	CCDS4798.1																																																																																			.		0.418	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		-	34951143	C	-	34951143	7	5	62	1	0	1	0	1	0	0	0	0	688	507	18	0	979	0	ANKS1A	6	34951143	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	1293973	34951143	136163924	542	12910											
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	38840860	38840860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaacgcctctcctgccacGgtttctaggatgggcatggt	13	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:38840860G>A	ENST00000359357.3	+	49	7019	c.6765G>A	c.(6763-6765)acG>acA	p.T2255T	DNAH8_ENST00000449981.2_Silent_p.T2472T|DNAH8_ENST00000441566.1_Silent_p.T2219T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2255	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						CTCCTGCCACGGTTTCTAGGA	0.502																																					p.T2472T		.											.	DNAH8-615	0			c.G7416A						.						93	96	95					6																	38840860		2203	4300	6503	SO:0001819	synonymous_variant	1769	exon51			TGCCACGGTTTCT	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.6765G>A	6.37:g.38840860G>A		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	138	55	NM_001206927	0	0	1	1	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				.		0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38840860	G	A	38840860	2	1	62	1	0	0	0	0	0	0	0	1	4621	1103	39	1		1	DNAH8	6	38840860	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3889717	38840860	132274207	543	12911											
KCNK17	89822	hgsc.bcm.edu	37	chr6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcaggagcacggtgcTgggcaccgcgcagccccgga	17	14	0	0	rs10947804	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3	4	3		61,61	2.1	0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	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.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	22	22	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		C	39282036	T	C	39282036	3	2	62	1	0	0	0	0	1	0	0	0	8091	1580	55	4	1089	4	KCNK17	6	39282036	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	441176	39282036	131833031	544	12912											
NFYA	4800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41060791	41060791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagcccgagctaaactAgaggcagaagggaaaattcc	12	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:41060791A>G	ENST00000341376.6	+	8	1056	c.855A>G	c.(853-855)ctA>ctG	p.L285L	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.L256L	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	285					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGCTAAACTAGAGGCAGAAG	0.433																																					p.L285L		.											.	NFYA-226	0			c.A855G						.						82	80	81					6																	41060791		2203	4300	6503	SO:0001819	synonymous_variant	4800	exon8			TAAACTAGAGGCA		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.855A>G	6.37:g.41060791A>G		Somatic	132	0		WXS	Illumina GAIIx	Phase_I	117	46	NM_002505	0	0	7	22	15	Q8IXU0	Silent	SNP	ENST00000341376.6	37	CCDS4849.1																																																																																			.		0.433	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			G	41060791	A	G	41060791	2	3	62	1	0	0	0	0	0	0	0	1	10428	407	15	4		4	NFYA	6	41060791	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1778755	41060791	130054276	545	12913											
TRERF1	55809	bcgsc.ca;mdanderson.org	37	chr6	42236625	42236625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccagaggctgctggtagTcataatacaggtgcccttgg	14	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42236625T>C	ENST00000372922.4	-	5	1266	c.704A>G	c.(703-705)gAc>gGc	p.D235G	TRERF1_ENST00000541110.1_Missense_Mutation_p.D235G|TRERF1_ENST00000340840.2_Missense_Mutation_p.D235G|TRERF1_ENST00000354325.2_Missense_Mutation_p.D235G|TRERF1_ENST00000372917.4_Missense_Mutation_p.D235G	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	235	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGGTAGTCATAATACAG	0.612																																					p.D235G		.											.	TRERF1-230	0			c.A704G						.						46	48	47					6																	42236625		2203	4300	6503	SO:0001583	missense	55809	exon5			TGGTAGTCATAAT	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.704A>G	6.37:g.42236625T>C	ENSP00000362013:p.Asp235Gly	Somatic	74	2		WXS	Illumina GAIIx	Phase_I	105	42	NM_033502	0	0	1	3	2	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075447	0.55646	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.18657	2.37;2.2;2.32;2.2;2.21	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	T	0.24928	0.0605	L	0.32530	0.975	0.38832	D	0.955874	D;D;D;P;P	0.71674	0.998;0.995;0.995;0.949;0.949	D;D;D;P;P	0.77557	0.99;0.961;0.961;0.6;0.6	T	0.02975	-1.1087	10	0.41790	T	0.15	-27.9254	15.4065	0.74884	0.0:0.0:0.0:1.0	.	235;235;235;74;74	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	G	235	ENSP00000439689:D235G;ENSP00000362008:D235G;ENSP00000362013:D235G;ENSP00000339438:D235G;ENSP00000346285:D235G	ENSP00000339438:D235G	D	-	2	0	TRERF1	42344603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.828000	0.69307	2.051000	0.60960	0.379000	0.24179	GAC	.		0.612	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		C	42236625	T	C	42236625	3	2	62	1	0	0	0	0	1	0	0	0	16523	1667	58	4	2954	4	TRERF1	6	42236625	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1175834	42236625	128878442	546	12914											
UBR2	23304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42610157	42610157	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attacttttttttttagattTattactaccataatgtgaaa	3	4	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42610157T>A	ENST00000372899.1	+	18	2293	c.2035T>A	c.(2035-2037)Tat>Aat	p.Y679N	UBR2_ENST00000372883.3_Missense_Mutation_p.Y183N|UBR2_ENST00000372901.1_Missense_Mutation_p.Y679N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	679					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)			TTTTTAGATTTATTACTACCA	0.333																																					p.Y679N		.											.	UBR2-94	0			c.T2035A						.						49	52	51					6																	42610157		2202	4300	6502	SO:0001583	missense	23304	exon18			TAGATTTATTACT	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.2035T>A	6.37:g.42610157T>A	ENSP00000361990:p.Tyr679Asn	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	32	18	NM_015255	0	0	0	0	0	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493322	0.84962	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.64085	-0.08;-0.08;-0.08	5.77	5.77	0.91146	.	0.057993	0.64402	D	0.000001	T	0.67420	0.2891	M	0.79693	2.465	0.80722	D	1	P;B;P	0.52463	0.797;0.384;0.953	P;B;P	0.53401	0.603;0.311;0.725	T	0.68981	-0.5266	10	0.35671	T	0.21	-10.0098	16.0885	0.81076	0.0:0.0:0.0:1.0	.	679;679;183	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	N	679;679;183	ENSP00000361990:Y679N;ENSP00000361992:Y679N;ENSP00000361974:Y183N	ENSP00000361974:Y183N	Y	+	1	0	UBR2	42718135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.650000	0.83521	2.192000	0.70111	0.533000	0.62120	TAT	.		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42610157	T	A	42610157	3	1	62	1	0	0	0	0	1	0	0	0	16951	1754	61	5	2251	5	UBR2	6	42610157	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	373532	42610157	128504910	547	12915											
KIAA0240	23506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42797332	42797332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaccacgtccagactataAatgggcaacttcttcaaact	5	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42797332A>G	ENST00000314073.5	+	6	1437	c.1261A>G	c.(1261-1263)Aat>Gat	p.N421D	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.N421D			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	421																	CCAGACTATAAATGGGCAACT	0.493																																					p.N421D		.											.	.	0			c.A1261G						.						211	224	220					6																	42797332		2203	4300	6503	SO:0001583	missense	23506	exon5			ACTATAAATGGGC	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1261A>G	6.37:g.42797332A>G	ENSP00000313933:p.Asn421Asp	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	112	44	NM_015349	0	0	9	18	9	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785184	0.70222	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.47528	0.84;0.84	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	L	0.56769	1.78	0.51233	D	0.999911	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.77557	0.987;0.99;0.99	T	0.58819	-0.7569	10	0.48119	T	0.1	-21.4624	16.1025	0.81194	1.0:0.0:0.0:0.0	.	421;421;421	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	D	421	ENSP00000313933:N421D;ENSP00000377723:N421D	ENSP00000313933:N421D	N	+	1	0	KIAA0240	42905310	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.847000	0.62867	2.254000	0.74563	0.533000	0.62120	AAT	.		0.493	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		G	42797332	A	G	42797332	3	3	62	1	0	0	0	0	1	0	0	0	8191	14	1	4	1275	4	KIAA0240	6	42797332	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	187175	42797332	128317735	548	12916											
PEX6	5190	hgsc.bcm.edu	37	chr6	42946490	42946490	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcacccgcggtccgggCactgggagggtctctccgcg	15	16	1	0	rs9462858	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2	3	3	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	6	NM_000287	0	0	0	21	21	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946490	C	A	42946490	2	1	62	1	0	0	0	0	0	0	0	1	11789	697	25	3		3	PEX6	6	42946490	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	149158	42946490	128168577	549	12917											
C6orf153	88745	bcgsc.ca	37	chr6	42995208	42995209	+	Frame_Shift_Ins	INS	-	-	A													gccatcggccatacttcctgINSaaaaaatgtgagttgggcac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42995208_42995209insA	ENST00000244496.5	+	6	646_647	c.636_637insA	c.(637-639)aaafs	p.K213fs		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	213					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CATACTTCCTGAAAAAATGTGA	0.564																																					p.L212fs		.											.	RRP36-90	0			c.636_637insA						.																																			SO:0001589	frameshift_variant	88745	exon6			CTTCCTGAAAAAA	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.642dupA	6.37:g.42995214_42995214dupA	ENSP00000244496:p.Lys213fs	Somatic	271	3		WXS	Illumina GAIIx	Phase_I	336	142	NM_033112	0	0	0	0	0	Q9BRF6|Q9P0C8	Frame_Shift_Ins	INS	ENST00000244496.5	37	CCDS34453.1																																																																																			.		0.564	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		A	42995209	-	A	42995208	7	5	62	1	0	1	1	0	0	0	0	0	2345	1277	45	0	658	0	C6orf153	6	42995208	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	48718	42995208	128119859	550	12918											
SRF	6722	hgsc.bcm.edu	37	chr6	43139653	43139653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcgactcggagtcgggcGaggaggaggagctgggcgcc	22	9	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:43139653G>A	ENST00000265354.4	+	1	617	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SRF_ENST00000457278.2_5'Flank	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	87	Asp/Glu-rich (acidic).|Gly-rich.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGAGTCGGGCGAGGAGGAGGA	0.771																																					p.E87K		.											.	SRF-1084	0			c.G259A						.						2	2	2					6																	43139653		1363	2825	4188	SO:0001583	missense	6722	exon1			TCGGGCGAGGAGG	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.259G>A	6.37:g.43139653G>A	ENSP00000265354:p.Glu87Lys	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	46	22	NM_003131	0	0	0	0	0	Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305283	0.81247	.	.	ENSG00000112658	ENST00000265354	D	0.83591	-1.74	3.42	3.42	0.39159	.	0.278591	0.33110	U	0.005269	T	0.56906	0.2017	L	0.27053	0.805	0.80722	D	1	P	0.38827	0.649	B	0.22753	0.041	T	0.68746	-0.5327	10	0.59425	D	0.04	-9.106	13.7739	0.63041	0.0:0.0:1.0:0.0	.	87	P11831	SRF_HUMAN	K	87	ENSP00000265354:E87K	ENSP00000265354:E87K	E	+	1	0	SRF	43247631	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.173000	0.89680	1.740000	0.51718	0.555000	0.69702	GAG	.		0.771	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		A	43139653	G	A	43139653	3	1	62	1	0	0	0	0	1	0	0	0	15190	1059	37	1	261	1	SRF	6	43139653	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	144445	43139653	127975414	551	12919											
GTPBP2	54676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43592287	43592287	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgggcagcagtgacggcatCatcctcagaggtgaccagca	13	12	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:43592287C>T	ENST00000307126.5	-	7	1059	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	GTPBP2_ENST00000307114.7_Missense_Mutation_p.D266N|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGACGGCATCATCCTCAGAG	0.597																																					p.D354N	GBM(116;405 1620 28302 32150 44768)	.											.	GTPBP2-92	0			c.G1060A						.						64	52	56					6																	43592287		2203	4300	6503	SO:0001583	missense	54676	exon7			CGGCATCATCCTC	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1060G>A	6.37:g.43592287C>T	ENSP00000303997:p.Asp354Asn	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	88	44	NM_019096	0	0	23	53	30		Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174355	0.94807	.	.	ENSG00000172432	ENST00000307126;ENST00000307114	T;T	0.33216	1.42;1.44	5.48	5.48	0.80851	Protein synthesis factor, GTP-binding (1);	0.099244	0.64402	D	0.000002	T	0.45597	0.1350	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	T	0.43556	-0.9384	10	0.87932	D	0	-13.921	19.3591	0.94428	0.0:1.0:0.0:0.0	.	346;354	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	N	354;266	ENSP00000303997:D354N;ENSP00000304893:D266N	ENSP00000304893:D266N	D	-	1	0	GTPBP2	43700265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.572000	0.86782	0.650000	0.86243	GAT	.		0.597	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			T	43592287	C	T	43592287	3	4	62	1	0	0	0	0	1	0	0	0	6907	826	29	3	772	3	GTPBP2	6	43592287	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	452634	43592287	127522780	552	12920											
SLC35B2	347734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	44223336	44223336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtggccccatagctgcGggtcatcactctttcctgca	11	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:44223336G>A	ENST00000393812.3	-	4	549	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	SLC35B2_ENST00000537814.1_Missense_Mutation_p.R3C|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P84L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.R43C	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	136					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCATAGCTGCGGGTCATCACT	0.527																																					p.R136C		.											.	SLC35B2-91	0			c.C406T						.						64	64	64					6																	44223336		2203	4300	6503	SO:0001583	missense	347734	exon4			AGCTGCGGGTCAT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.406C>T	6.37:g.44223336G>A	ENSP00000377401:p.Arg136Cys	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	103	38	NM_178148	0	0	60	102	42	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.171141|4.171141	0.78452|0.78452	.|.	.|.	ENSG00000157593|ENSG00000157593	ENST00000393810|ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	.|T;T;T	.|0.32988	.|1.43;1.44;1.43	5.69|5.69	3.84|3.84	0.44239|0.44239	.|.	.|0.101087	.|0.64402	.|D	.|0.000002	T|T	0.32823|0.32823	0.0842|0.0842	M|M	0.77820|0.77820	2.39|2.39	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.65815	.|0.995;0.988	.|P;P	.|0.55011	.|0.663;0.766	T|T	0.12041|0.12041	-1.0563|-1.0563	6|10	0.59425|0.38643	D|T	0.04|0.18	-34.4187|-34.4187	10.1438|10.1438	0.42751|0.42751	0.0:0.1184:0.5639:0.3177|0.0:0.1184:0.5639:0.3177	.|.	.|43;136	.|F5H7Y9;Q8TB61	.|.;S35B2_HUMAN	L|C	84|136;3;43;136	.|ENSP00000377401:R136C;ENSP00000440340:R3C;ENSP00000443845:R43C	ENSP00000377399:P84L|ENSP00000342455:R136C	P|R	-|-	2|1	0|0	SLC35B2|SLC35B2	44331314|44331314	0.991000|0.991000	0.36638|0.36638	0.987000|0.987000	0.45799|0.45799	0.945000|0.945000	0.59286|0.59286	3.087000|3.087000	0.50167|0.50167	0.691000|0.691000	0.31592|0.31592	0.561000|0.561000	0.74099|0.74099	CCG|CGC	.		0.527	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			A	44223336	G	A	44223336	3	1	62	1	0	0	0	0	1	0	0	0	14621	1116	39	1	896	1	SLC35B2	6	44223336	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	631049	44223336	126891731	553	12921											
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46658119	46658119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catctgtttattttcctcttAtgcagaattgcttggaaatt	6	7	2	1	rs553260737		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:46658119A>T	ENST00000316081.6	+	1	2254	c.2254A>T	c.(2254-2256)Atg>Ttg	p.M752L	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.M752L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	752					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)			TTTTCCTCTTATGCAGAATTG	0.393																																					p.M752L		.											.	TDRD6-138	0			c.A2254T						.						36	36	36					6																	46658119		2203	4300	6503	SO:0001583	missense	221400	exon1			CCTCTTATGCAGA	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.2254A>T	6.37:g.46658119A>T	ENSP00000346065:p.Met752Leu	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	72	25	NM_001168359	0	0	0	0	0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197114	0.38806	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12465	2.68;2.68	5.85	-2.84	0.05751	.	1.651520	0.02899	N	0.135086	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42172	-0.9467	10	0.27785	T	0.31	-11.1785	8.4713	0.32986	0.4501:0.1151:0.4348:0.0	.	752;752	F5H5M3;O60522	.;TDRD6_HUMAN	L	752	ENSP00000443299:M752L;ENSP00000346065:M752L	ENSP00000346065:M752L	M	+	1	0	TDRD6	46766078	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	-0.221000	0.09202	-0.355000	0.08199	0.533000	0.62120	ATG	.		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46658119	A	T	46658119	3	4	62	1	0	0	0	0	1	0	0	0	15781	449	16	5	2256	5	TDRD6	6	46658119	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2434783	46658119	124456948	554	12922											
GPR115	221393	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	47680311	47680312	+	Frame_Shift_Ins	INS	-	-	T													taaaaaatatttctacagacINSttgtctgataatgttactcg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:47680311_47680312insT	ENST00000283303.2	+	5	777_778	c.519_520insT	c.(520-522)ttgfs	p.L174fs	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Frame_Shift_Ins_p.L174fs|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.L231fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	174					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTCTACAGACTTGTCTGATAA	0.272																																					p.D173fs	GBM(22;431 510 9010 26644 32828)	.											.	GPR115-160	0			c.519_520insT						.																																			SO:0001589	frameshift_variant	221393	exon5			TACAGACTTGTCT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.521dupT	6.37:g.47680313_47680313dupT	ENSP00000283303:p.Leu174fs	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	83	23	NM_153838	0	0	0	0	0	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Ins	INS	ENST00000283303.2	37	CCDS4922.2																																																																																			.		0.272	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		T	47680312	-	T	47680311	7	5	62	1	0	1	1	0	0	0	0	0	6658	564	20	0	533	0	GPR115	6	47680311	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	1022192	47680311	123434756	555	12923											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51695744	51695744	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaccttgccatgtttcAgggagggaccattttaaagc	9	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:51695744A>C	ENST00000371117.3	-	52	8492	c.8217T>G	c.(8215-8217)ccT>ccG	p.P2739P	PKHD1_ENST00000340994.4_Silent_p.P2739P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2739					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)					GCCATGTTTCAGGGAGGGACC	0.408																																					p.P2739P		.											.	PKHD1-603	0			c.T8217G						.						97	88	91					6																	51695744		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon52			TGTTTCAGGGAGG	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.8217T>G	6.37:g.51695744A>C		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	100	39	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51695744	A	C	51695744	2	2	62	1	0	0	0	0	0	0	0	1	12010	175	7	5		5	PKHD1	6	51695744	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4015433	51695744	119419323	556	12924											
GSTA2	2939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	52615481	52615482	+	Frame_Shift_Ins	INS	-	-	T													cactgtgggcaggttactgaINSttctggttttcagggcctgt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:52615481_52615482insT	ENST00000493422.1	-	7	717_718	c.562_563insA	c.(562-564)atcfs	p.I188fs		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	188	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CAGGTTACTGATTCTGGTTTTC	0.48																																					p.I188fs		.											.	GSTA2-91	0			c.563_564insA						.																																			SO:0001589	frameshift_variant	2939	exon7			TTACTGATTCTGG	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.563dupA	6.37:g.52615483_52615483dupT	ENSP00000420168:p.Ile188fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	76	35	NM_000846	0	0	0	0	0	Q12759|Q16491|Q9NTY6	Frame_Shift_Ins	INS	ENST00000493422.1	37	CCDS4944.1																																																																																			.		0.48	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		T	52615482	-	T	52615481	7	5	62	1	0	1	1	0	0	0	0	0	6858	333	12	0	109	0	GSTA2	6	52615481	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	919737	52615481	118499586	557	12925											
ELOVL5	60481	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	53140004	53140004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcaggatgaagaagaaaGtgtccataaattctatgagt	11	5	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:53140004G>T	ENST00000542638.1	-	5	827	c.380C>A	c.(379-381)aCt>aAt	p.T127N	ELOVL5_ENST00000304434.6_Missense_Mutation_p.T127N|ELOVL5_ENST00000486973.1_5'Flank|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Missense_Mutation_p.T117N|ELOVL5_ENST00000541407.1_Missense_Mutation_p.T154N			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	127					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					GAAGAAGAAAGTGTCCATAAA	0.468																																					p.T154N		.											.	ELOVL5-90	0			c.C461A						.						185	157	167					6																	53140004		2203	4300	6503	SO:0001583	missense	60481	exon6			AAGAAAGTGTCCA	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.380C>A	6.37:g.53140004G>T	ENSP00000440728:p.Thr127Asn	Somatic	185	1		WXS	Illumina GAIIx	Phase_I	216	74	NM_001242828	0	0	179	301	122	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438963	0.96168	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	H	0.99783	4.775	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	0.92678	0.6156	10	0.87932	D	0	-12.874	20.7342	0.99715	0.0:0.0:1.0:0.0	.	154;127;127	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	N	117;127;127;154	ENSP00000359956:T117N;ENSP00000306640:T127N;ENSP00000440728:T127N;ENSP00000438095:T154N	ENSP00000306640:T127N	T	-	2	0	ELOVL5	53247963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	ACT	.		0.468	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		T	53140004	G	T	53140004	3	4	62	1	0	0	0	0	1	0	0	0	5093	1029	36	3	535	3	ELOVL5	6	53140004	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	524523	53140004	117975063	558	12926											
C6orf142	90523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	53883833	53883833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctctttcaatatggaaCttgaaaagcgtgaaaaaaga	7	6	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:53883833C>T	ENST00000274897.5	+	1	120	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	MLIP_ENST00000509997.1_Missense_Mutation_p.L3F|MLIP_ENST00000370877.2_Missense_Mutation_p.L3F|MLIP_ENST00000514921.1_Missense_Mutation_p.L3F	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	3	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAATATGGAACTTGAAAAGCG	0.338																																					p.L3F		.											.	MLIP-99	0			c.C7T						.						53	57	55					6																	53883833		2203	4300	6503	SO:0001583	missense	90523	exon1			ATGGAACTTGAAA	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.7C>T	6.37:g.53883833C>T	ENSP00000274897:p.Leu3Phe	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	145	58	NM_138569	0	0	0	0	0	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060467	0.36373	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997	T;T;T;T	0.27720	2.03;1.65;1.71;1.73	5.9	3.58	0.41010	.	0.534813	0.16842	N	0.197292	T	0.02929	0.0087	N	0.00707	-1.245	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32455	-0.9906	10	0.22109	T	0.4	0.0069	8.0055	0.30323	0.0:0.2667:0.0:0.7333	.	3;3	Q5VWP3;D6RE05	MLIP_HUMAN;.	F	3	ENSP00000274897:L3F;ENSP00000425142:L3F;ENSP00000359914:L3F;ENSP00000427584:L3F	ENSP00000274897:L3F	L	+	1	0	MLIP	53991792	0.999000	0.42202	1.000000	0.80357	0.764000	0.43329	0.539000	0.23175	1.071000	0.40834	-0.312000	0.09012	CTT	.		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		T	53883833	C	T	53883833	3	4	62	1	0	0	0	0	1	0	0	0	2340	565	20	3	9	3	C6orf142	6	53883833	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	743829	53883833	117231234	559	12927											
HMGCLL1	54511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	55304258	55304258	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagccccaggccattaagcaTatatatcaaatcctcagtgg	8	11	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:55304258T>A	ENST00000398661.2	-	9	1116	c.985A>T	c.(985-987)Atg>Ttg	p.M329L	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.M299L|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.M196L|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.M133L|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.M267L|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	329					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATTAAGCATATATATCAAA	0.428																																					p.M329L	Ovarian(35;840 893 7837 15538 42887)	.											.	HMGCLL1-94	0			c.A985T						.						97	92	93					6																	55304258		1866	4100	5966	SO:0001583	missense	54511	exon9			TAAGCATATATAT	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.985A>T	6.37:g.55304258T>A	ENSP00000381654:p.Met329Leu	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	80	35	NM_019036	0	0	0	0	0	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	t	14.59	2.582175	0.46006	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98075	-4.7;-4.7;-4.66;-4.7;-4.7	5.82	5.82	0.92795	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.077470	0.85682	D	0.000000	D	0.97059	0.9039	L	0.52364	1.645	0.80722	D	1	P;P;B;B;B	0.42161	0.696;0.772;0.04;0.028;0.035	P;P;B;B;B	0.58577	0.746;0.841;0.075;0.079;0.129	D	0.96719	0.9531	10	0.16896	T	0.51	-14.2587	16.1811	0.81903	0.0:0.0:0.0:1.0	.	133;196;267;299;329	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	L	299;329;196;133;267	ENSP00000274901:M299L;ENSP00000381654:M329L;ENSP00000359887:M196L;ENSP00000424309:M133L;ENSP00000309737:M267L	ENSP00000274901:M299L	M	-	1	0	HMGCLL1	55412217	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.002000	0.88514	2.223000	0.72356	0.446000	0.29264	ATG	.		0.428	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		A	55304258	T	A	55304258	3	1	62	1	0	0	0	0	1	0	0	0	7257	1406	49	5	135	5	HMGCLL1	6	55304258	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1420425	55304258	115810809	560	12928											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56371582	56371582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccatctatttcttccctTatggtctagaataagaaaat	5	8	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:56371582T>C	ENST00000361203.3	-	71	18292	c.18285A>G	c.(18283-18285)atA>atG	p.I6095M	DST_ENST00000370754.5_Missense_Mutation_p.I6384M|DST_ENST00000421834.2_Missense_Mutation_p.I4118M|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.I4009M|DST_ENST00000244364.6_Missense_Mutation_p.I3792M|DST_ENST00000446842.2_Missense_Mutation_p.I5880M|DST_ENST00000370769.4_Missense_Mutation_p.I6206M			Q03001	DYST_HUMAN	dystonin	6085					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)			TTTCTTCCCTTATGGTCTAGA	0.363																																					p.I3792M		.											.	DST-523	0			c.A11376G						.						121	120	120					6																	56371582		1832	4089	5921	SO:0001583	missense	667	exon57			TTCCCTTATGGTC	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.18285A>G	6.37:g.56371582T>C	ENSP00000354508:p.Ile6095Met	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	90	39	NM_015548	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	13.48	2.251184	0.39797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.51071	1.28;1.28;1.28;1.28;1.28;1.28;0.72	5.41	-5.0	0.03001	.	0.392405	0.21368	N	0.075694	T	0.39682	0.1087	L	0.58810	1.83	0.26627	N	0.972533	D;D;P;P;P	0.57257	0.96;0.979;0.955;0.568;0.951	P;D;P;B;P	0.63283	0.78;0.913;0.726;0.365;0.847	T	0.46331	-0.9199	9	0.59425	D	0.04	.	8.5863	0.33660	0.2647:0.0:0.4469:0.2883	.	4118;6206;6384;6204;3792	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	3792;6384;6206;4118;5880;4009;6095;208	ENSP00000244364:I3792M;ENSP00000359790:I6384M;ENSP00000359805:I6206M;ENSP00000400883:I4118M;ENSP00000393645:I5880M;ENSP00000359824:I4009M;ENSP00000354508:I6095M	ENSP00000244364:I3792M	I	-	3	3	DST	56479541	0.988000	0.35896	0.331000	0.25455	0.623000	0.37688	0.113000	0.15499	-0.663000	0.05331	-0.480000	0.04831	ATA	.		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56371582	T	C	56371582	3	2	62	1	0	0	0	0	1	0	0	0	4797	1744	61	4	4251	4	DST	6	56371582	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1067324	56371582	114743485	561	12929											
DST	667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	56481544	56481545	+	Frame_Shift_Ins	INS	-	-	T													gcttccaagatatgtttaccINStttttgtctgtcaagcattc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:56481544_56481545insT	ENST00000370765.6	-	24	6827_6828	c.6720_6721insA	c.(6718-6723)aaaggtfs	p.G2241fs	DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1583					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)			ATATGTTTACCTTTTTGTCTGT	0.455																																					p.G2241fs		.											.	DST-523	0			c.6721_6722insA						.																																			SO:0001589	frameshift_variant	667	exon24			GTTTACCTTTTTG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6721dupA	6.37:g.56481549_56481549dupT	ENSP00000359801:p.Gly2241fs	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	95	40	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000370765.6	37	CCDS4959.1																																																																																			.		0.455	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56481545	-	T	56481544	7	5	62	1	0	1	1	0	0	0	0	0	4797	681	24	0	13678	0	DST	6	56481544	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	109962	56481544	114633523	562	12930											
FAM135A	57579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	71138076	71138076	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcaatggtagaattcTctgtggagctaaacaagttc	9	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:71138076T>A	ENST00000418814.2	+	4	645	c.31T>A	c.(31-33)Tct>Act	p.S11T	FAM135A_ENST00000370479.3_Missense_Mutation_p.S11T|FAM135A_ENST00000457062.2_Missense_Mutation_p.S11T|FAM135A_ENST00000505868.1_Missense_Mutation_p.S11T|FAM135A_ENST00000361499.3_Missense_Mutation_p.S11T|FAM135A_ENST00000505769.1_Missense_Mutation_p.S11T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	11										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						GGTAGAATTCTCTGTGGAGCT	0.313																																					p.S11T		.											.	FAM135A-90	0			c.T31A						.						83	85	84					6																	71138076		2203	4298	6501	SO:0001583	missense	57579	exon2			GAATTCTCTGTGG	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.31T>A	6.37:g.71138076T>A	ENSP00000410768:p.Ser11Thr	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	44	20	NM_001162529	0	0	1	2	1	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037138	0.93630	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000515280;ENST00000507085;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.26223	1.99;2.02;1.75;2.02;2.08;1.98	5.84	5.84	0.93424	.	0.130165	0.53938	D	0.000057	T	0.45337	0.1337	M	0.79926	2.475	0.39986	D	0.974982	D;D;D;D	0.76494	0.999;0.982;0.999;0.999	D;D;D;D	0.81914	0.995;0.952;0.945;0.945	T	0.50215	-0.8854	10	0.54805	T	0.06	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	11;11;11;11	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	T	11	ENSP00000410768:S11T;ENSP00000359510:S11T;ENSP00000423785:S11T;ENSP00000409201:S11T;ENSP00000354913:S11T;ENSP00000423307:S11T	ENSP00000194672:S11T	S	+	1	0	FAM135A	71194797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.270000	0.65547	2.243000	0.73865	0.533000	0.62120	TCT	.		0.313	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		A	71138076	T	A	71138076	3	1	62	1	0	0	0	0	1	0	0	0	5467	1551	54	5	33	5	FAM135A	6	71138076	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	14656532	71138076	99976991	563	12931											
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	72960679	72960679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatactagaaccaaaatggAatcaaacttttgtctattca	4	7	3	1	rs201901272		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:72960679A>G	ENST00000521978.1	+	14	2428	c.2428A>G	c.(2428-2430)Aat>Gat	p.N810D	RIMS1_ENST00000522291.1_Missense_Mutation_p.N810D|RIMS1_ENST00000517827.1_Missense_Mutation_p.N269D|RIMS1_ENST00000491071.2_Missense_Mutation_p.N810D|RIMS1_ENST00000401910.3_Missense_Mutation_p.N284D|RIMS1_ENST00000520567.1_Missense_Mutation_p.N810D|RIMS1_ENST00000523963.1_Missense_Mutation_p.N284D|RIMS1_ENST00000518273.1_Missense_Mutation_p.N810D|RIMS1_ENST00000425662.2_Missense_Mutation_p.N203D|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.N810D|RIMS1_ENST00000264839.7_Missense_Mutation_p.N810D|RIMS1_ENST00000517960.1_Missense_Mutation_p.N810D	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	810	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				ACCAAAATGGAATCAAACTTT	0.323																																					p.N810D		.											.	RIMS1-144	0			c.A2428G						.						89	82	84					6																	72960679		1817	4063	5880	SO:0001583	missense	22999	exon14			AAATGGAATCAAA	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.2428A>G	6.37:g.72960679A>G	ENSP00000428417:p.Asn810Asp	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	139	63	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.746387|4.746387	0.89663|0.89663	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.80653	.|-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.73|5.73	5.73|5.73	0.89815|0.89815	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.85120|0.85120	0.5624|0.5624	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|B;B;D;D;D;P;D;D;P;D;D;D	.|0.71674	.|0.187;0.235;0.979;0.99;0.998;0.944;0.988;0.979;0.813;0.99;0.988;0.99	.|P;B;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.742;0.376;0.982;0.995;0.999;0.978;0.993;0.99;0.913;0.994;0.982;0.995	D|D	0.87086|0.87086	0.2169|0.2169	5|10	.|0.72032	.|D	.|0.01	-28.1457|-28.1457	15.9855|15.9855	0.80147|0.80147	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|269;284;810;269;284;810;63;810;810;63;810;810	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	G|D	383|810;810;810;810;810;810;810;810;810;810;810;810;284;284;203;203;269;35	.|ENSP00000430101:N810D;ENSP00000275037:N810D;ENSP00000264839:N810D;ENSP00000429959:N810D;ENSP00000430408:N810D;ENSP00000430502:N810D;ENSP00000430932:N810D;ENSP00000428417:N810D;ENSP00000385649:N284D;ENSP00000428328:N284D;ENSP00000411235:N203D;ENSP00000389503:N203D;ENSP00000428367:N269D;ENSP00000359448:N35D	.|ENSP00000264839:N810D	E|N	+|+	2|1	0|0	RIMS1|RIMS1	73017400|73017400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.298000|9.298000	0.96132|0.96132	2.179000|2.179000	0.69175|0.69175	0.477000|0.477000	0.44152|0.44152	GAA|AAT	A|0.999;T|0.000		0.323	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72960679	A	G	72960679	3	3	62	1	0	0	0	0	1	0	0	0	13412	246	9	4	2645	4	RIMS1	6	72960679	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1822603	72960679	98154388	564	12932											
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	72968725	72968725	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccaacaagaaggtcacgTtctccaaccagacaccatga	6	14	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:72968725T>A	ENST00000521978.1	+	18	2964	c.2964T>A	c.(2962-2964)cgT>cgA	p.R988R	RIMS1_ENST00000522291.1_Silent_p.R987R|RIMS1_ENST00000517827.1_Silent_p.R447R|RIMS1_ENST00000491071.2_Silent_p.R988R|RIMS1_ENST00000401910.3_Silent_p.R461R|RIMS1_ENST00000520567.1_Silent_p.R987R|RIMS1_ENST00000523963.1_Silent_p.R462R|RIMS1_ENST00000518273.1_Silent_p.R988R|RIMS1_ENST00000425662.2_Silent_p.R381R|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Silent_p.R987R|RIMS1_ENST00000264839.7_Silent_p.R988R|RIMS1_ENST00000517960.1_Silent_p.R987R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	988					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)				GAAGGTCACGTTCTCCAACCA	0.388																																					p.R988R		.											.	RIMS1-144	0			c.T2964A						.						139	139	139					6																	72968725		1942	4128	6070	SO:0001819	synonymous_variant	22999	exon18			GTCACGTTCTCCA	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.2964T>A	6.37:g.72968725T>A		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	108	54	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.59|10.59	1.393699|1.393699	0.25205|0.25205	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211	.|.	.|.	.|.	5.41|5.41	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	T|T	0.49949|0.49949	0.1587|0.1587	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50215|0.50215	-0.8854|-0.8854	4|4	.|.	.|.	.|.	-15.7686|-15.7686	11.2727|11.2727	0.49148|0.49148	0.0:0.0717:0.0:0.9283|0.0:0.0717:0.0:0.9283	.|.	.|.	.|.	.|.	I|D	562|79	.|.	.|.	F|V	+|+	1|2	0|0	RIMS1|RIMS1	73025446|73025446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.449000|2.449000	0.44935|0.44935	1.004000|1.004000	0.39156|0.39156	0.460000|0.460000	0.39030|0.39030	TTC|GTT	.		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72968725	T	A	72968725	2	1	62	1	0	0	0	0	0	0	0	1	13412	1712	60	5		5	RIMS1	6	72968725	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	8046	72968725	98146342	565	12933											
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	73000437	73000437	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagccccaagagcaactgatCagccagtcattaggggaaaa	10	11	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:73000437C>T	ENST00000521978.1	+	25	3610	c.3610C>T	c.(3610-3612)Cag>Tag	p.Q1204*	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1204					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)				AGCAACTGATCAGCCAGTCAT	0.498																																					p.Q1204X		.											.	RIMS1-144	0			c.C3610T						.						81	81	81					6																	73000437		2013	4187	6200	SO:0001587	stop_gained	22999	exon25			ACTGATCAGCCAG	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.3610C>T	6.37:g.73000437C>T	ENSP00000428417:p.Gln1204*	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	122	47	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	42	9.329490	0.99138	.	.	ENSG00000079841	ENST00000521978	.	.	.	5.85	5.85	0.93711	.	0.127266	0.35838	N	0.002956	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.1781	17.9365	0.89013	0.0:1.0:0.0:0.0	.	.	.	.	X	1204	.	ENSP00000428417:Q1204X	Q	+	1	0	RIMS1	73057158	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.258000	0.65479	2.773000	0.95371	0.655000	0.94253	CAG	.		0.498	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	73000437	C	T	73000437	4	4	62	1	0	0	0	0	0	1	0	0	13412	827	29	3	3871	3	RIMS1	6	73000437	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	31712	73000437	98114630	566	12934											
KCNQ5	56479	hgsc.bcm.edu	37	chr6	73332040	73332040	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgaaggatgtggagtcCggccggggcagggtgctgct	20	8	0	1	rs3734212	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000403813.2_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S|KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000414165.2_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					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)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2	3	3		123,123,123,123,123	-2.2	1	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	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.123C>G	6.37:g.73332040C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		G	73332040	C	G	73332040	2	3	62	1	0	0	0	0	0	0	0	1	8113	639	23	2		2	KCNQ5	6	73332040	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	331603	73332040	97783027	567	12935											
SENP6	26054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	76380283	76380283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtttggcaattctatTatcaacacacctctgaaacg	5	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:76380283T>C	ENST00000447266.2	+	11	1717	c.1239T>C	c.(1237-1239)atT>atC	p.I413I	SENP6_ENST00000370014.3_Silent_p.I413I|SENP6_ENST00000327284.8_Silent_p.I406I|SENP6_ENST00000370010.2_Silent_p.I406I|SENP6_ENST00000541192.1_Silent_p.I9I	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	413					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCAATTCTATTATCAACACAC	0.328																																					p.I413I		.											.	SENP6-660	0			c.T1239C						.						98	86	89					6																	76380283		1809	4075	5884	SO:0001819	synonymous_variant	26054	exon11			TTCTATTATCAAC		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1239T>C	6.37:g.76380283T>C		Somatic	30	0		WXS	Illumina GAIIx	Phase_I	46	19	NM_015571	0	0	15	25	10	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	CCDS47454.1																																																																																			.		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		C	76380283	T	C	76380283	2	2	62	1	0	0	0	0	0	0	0	1	14095	1742	61	4		4	SENP6	6	76380283	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3048243	76380283	94734784	568	12936											
HMGN3	9324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	79913320	79913320	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgtttttcttggttTgggttcaggttttggtggag	15	3	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:79913320T>A	ENST00000344726.5	-	4	252	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	HMGN3_ENST00000275036.7_Nonsense_Mutation_p.K42*	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	42					chromatin modification (GO:0016568)|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 insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTCTTGGTTTGGGTTCAGGT	0.318																																					p.K42X		.											.	HMGN3-226	0			c.A124T						.						151	151	151					6																	79913320		2203	4300	6503	SO:0001587	stop_gained	9324	exon4			TTGGTTTGGGTTC	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"High-mobility group / Canonical"	12312	protein-coding gene	gene with protein product		604502	"thyroid hormone receptor interactor 7"	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.124A>T	6.37:g.79913320T>A	ENSP00000341267:p.Lys42*	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	85	37	NM_001201362	0	0	205	260	55	B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Nonsense_Mutation	SNP	ENST00000344726.5	37	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	T	36	5.654757	0.96724	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	.	.	.	X	42	.	.	K	-	1	0	HMGN3	79970039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.304000	0.72800	2.272000	0.75746	0.460000	0.39030	AAA	.		0.318	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		A	79913320	T	A	79913320	4	1	62	1	0	0	0	0	0	1	0	0	7263	1821	63	5	187	5	HMGN3	6	79913320	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3533037	79913320	91201747	569	12937											
DOPEY1	23033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	83849997	83849997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcagtggaatcctctcaAtccttcatatgatcatgtcc	6	13	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:83849997A>G	ENST00000349129.2	+	23	5550	c.5290A>G	c.(5290-5292)Atc>Gtc	p.I1764V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I1755V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I1745V|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1764					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATCCTCTCAATCCTTCATAT	0.418																																					p.I1764V		.											.	DOPEY1-155	0			c.A5290G						.						152	139	143					6																	83849997		2203	4300	6503	SO:0001583	missense	23033	exon23			CTCTCAATCCTTC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5290A>G	6.37:g.83849997A>G	ENSP00000195654:p.Ile1764Val	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	103	40	NM_015018	0	0	1	1	0	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934444	0.73442	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.25749	1.81;1.78	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.38531	1.155	0.80722	D	1	P;P;P	0.49961	0.93;0.913;0.913	D;P;P	0.63877	0.919;0.891;0.891	T	0.03077	-1.1075	10	0.15499	T	0.54	.	15.6275	0.76874	1.0:0.0:0.0:0.0	.	1655;1755;1764	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	1764;1745;1745	ENSP00000195654:I1764V;ENSP00000237163:I1745V	ENSP00000237163:I1745V	I	+	1	0	DOPEY1	83906716	1.000000	0.71417	0.938000	0.37757	0.950000	0.60333	7.121000	0.77160	2.145000	0.66743	0.477000	0.44152	ATC	.		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		G	83849997	A	G	83849997	3	3	62	1	0	0	0	0	1	0	0	0	4721	101	4	4	5372	4	DOPEY1	6	83849997	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3936677	83849997	87265070	570	12938											
ZNF292	23036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	87967774	87967774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcctcgatctggtgtgaCtaactttaataccagtgtca	7	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:87967774C>T	ENST00000369577.3	+	8	4470	c.4427C>T	c.(4426-4428)aCt>aTt	p.T1476I	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1471I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1476						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)		TCTGGTGTGACTAACTTTAAT	0.398																																					p.T1476I		.											.	ZNF292-72	0			c.C4427T						.						55	53	53					6																	87967774		1857	4100	5957	SO:0001583	missense	23036	exon8			GTGTGACTAACTT	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.4427C>T	6.37:g.87967774C>T	ENSP00000358590:p.Thr1476Ile	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	74	31	NM_015021	0	0	7	12	5	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374338	0.24857	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08720	3.06;3.07	5.97	3.73	0.42828	.	0.493365	0.21795	N	0.069001	T	0.02047	0.0064	N	0.19112	0.55	0.33017	D	0.528302	B	0.34103	0.437	B	0.30572	0.117	T	0.42666	-0.9438	10	0.72032	D	0.01	.	10.1897	0.43019	0.1827:0.6348:0.1825:0.0	.	1476	O60281	ZN292_HUMAN	I	1476;1471	ENSP00000358590:T1476I;ENSP00000342847:T1471I	ENSP00000342847:T1471I	T	+	2	0	ZNF292	88024493	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.458000	0.21892	0.552000	0.29026	0.655000	0.94253	ACT	.		0.398	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87967774	C	T	87967774	3	4	62	1	0	0	0	0	1	0	0	0	17874	565	20	3	4457	3	ZNF292	6	87967774	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4117777	87967774	83147293	571	12939											
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	90377855	90377855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttccataaattcttTgggcaagcaaaatcccttag	6	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:90377855T>C	ENST00000369393.3	-	84	14087	c.13972A>G	c.(13972-13974)Aaa>Gaa	p.K4658E	MDN1_ENST00000428876.1_Missense_Mutation_p.K4658E|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4658					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)		ATAAATTCTTTGGGCAAGCAA	0.408																																					p.K4658E		.											.	MDN1-100	0			c.A13972G						.						101	86	91					6																	90377855		2203	4300	6503	SO:0001583	missense	23195	exon84			ATTCTTTGGGCAA	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.13972A>G	6.37:g.90377855T>C	ENSP00000358400:p.Lys4658Glu	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	44	19	NM_014611	0	0	1	9	8	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152504	0.38021	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.59	4.43	0.53597	.	0.186718	0.46442	D	0.000281	T	0.01029	0.0034	L	0.60455	1.87	0.35243	D	0.778012	B	0.34372	0.451	B	0.30179	0.112	T	0.20505	-1.0273	10	0.05620	T	0.96	.	11.4108	0.49925	0.0:0.0708:0.0:0.9292	.	4658	Q9NU22	MDN1_HUMAN	E	4658	ENSP00000358400:K4658E;ENSP00000413970:K4658E	ENSP00000358400:K4658E	K	-	1	0	MDN1	90434576	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.493000	0.60341	0.966000	0.38159	0.528000	0.53228	AAA	.		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90377855	T	C	90377855	3	2	62	1	0	0	0	0	1	0	0	0	9453	1821	63	4	2894	4	MDN1	6	90377855	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2410081	90377855	80737212	572	12940											
SOBP	55084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	107811894	107811894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctcacccagtgaaaaGggagatcaatgaggagatga	14	8	2	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:107811894G>A	ENST00000317357.5	+	1	733	c.74G>A	c.(73-75)aGg>aAg	p.R25K		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)		CCAGTGAAAAGGGAGATCAAT	0.527																																					p.R25K		.											.	SOBP-91	0			c.G74A						.						52	62	59					6																	107811894		1856	4094	5950	SO:0001583	missense	55084	exon1			TGAAAAGGGAGAT	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.74G>A	6.37:g.107811894G>A	ENSP00000318900:p.Arg25Lys	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	131	58	NM_018013	0	0	1	2	1		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535778	0.96460	.	.	ENSG00000112320	ENST00000317357	T	0.11277	2.79	4.9	4.9	0.64082	.	0.000000	0.64402	U	0.000002	T	0.16300	0.0392	L	0.38175	1.15	0.58432	D	0.999996	D	0.61697	0.99	D	0.73380	0.98	T	0.02813	-1.1107	10	0.44086	T	0.13	-9.3502	18.0676	0.89396	0.0:0.0:1.0:0.0	.	25	A7XYQ1	SOBP_HUMAN	K	25	ENSP00000318900:R25K	ENSP00000318900:R25K	R	+	2	0	SOBP	107918587	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.109000	0.94291	2.258000	0.74832	0.462000	0.41574	AGG	.		0.527	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		A	107811894	G	A	107811894	3	1	62	1	0	0	0	0	1	0	0	0	14957	1000	35	3	76	3	SOBP	6	107811894	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17434039	107811894	63303173	573	12941											
MICAL1	64780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	109773753	109773753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagccgagataaggaCgtcaaattcatagttggcca	10	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:109773753C>T	ENST00000358807.3	-	5	948	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	MICAL1_ENST00000368952.4_Missense_Mutation_p.V232I|MICAL1_ENST00000358577.3_Missense_Mutation_p.V213I|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	213	Monooxygenase domain. {ECO:0000250}.				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)		GAGATAAGGACGTCAAATTCA	0.562																																					p.V213I		.											.	MICAL1-154	0			c.G637A						.						40	39	40					6																	109773753		2203	4300	6503	SO:0001583	missense	64780	exon5			TAAGGACGTCAAA	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.637G>A	6.37:g.109773753C>T	ENSP00000351664:p.Val213Ile	Somatic	153	1		WXS	Illumina GAIIx	Phase_I	211	76	NM_001159291	0	0	2	4	2	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869798	0.72065	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.72479	2.2	0.47547	D	0.999457	P;D;D	0.89917	0.779;1.0;0.999	B;D;D	0.75020	0.173;0.985;0.966	T	0.11036	-1.0604	10	0.66056	D	0.02	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	232;213;213	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	I	213;232;213;213	ENSP00000351664:V213I;ENSP00000357948:V232I;ENSP00000351385:V213I;ENSP00000407075:V213I	ENSP00000351385:V213I	V	-	1	0	MICAL1	109880446	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	5.674000	0.68117	2.894000	0.99253	0.655000	0.94253	GTC	.		0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109773753	C	T	109773753	3	4	62	1	0	0	0	0	1	0	0	0	9607	536	19	1	2650	1	MICAL1	6	109773753	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1961859	109773753	61341314	574	12942											
ZBTB24	9841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	109798048	109798048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtgtacggccgctcGcctgtgtgcatcctggtgtg	16	11	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:109798048G>A	ENST00000230122.3	-	3	1205	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	346					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)		ACGGCCGCTCGCCTGTGTGCA	0.587																																					p.G346G		.											.	ZBTB24-92	0			c.C1038T						.						72	59	63					6																	109798048		2203	4300	6503	SO:0001819	synonymous_variant	9841	exon3			CCGCTCGCCTGTG	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.1038C>T	6.37:g.109798048G>A		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	146	53	NM_014797	0	0	3	3	0	Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	CCDS34509.1																																																																																			.		0.587	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		A	109798048	G	A	109798048	2	1	62	1	0	0	0	0	0	0	0	1	17579	1074	38	1		1	ZBTB24	6	109798048	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	24295	109798048	61317019	575	12943											
LAMA4	3910	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	112441533	112441534	+	Frame_Shift_Ins	INS	-	-	T													tcctggcttctaatcttcagINSttttttgtgaccaacattaa							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:112441533_112441534insT	ENST00000230538.7	-	33	5014_5015	c.4617_4618insA	c.(4615-4620)aaactgfs	p.L1540fs	LAMA4_ENST00000522006.1_Frame_Shift_Ins_p.L1533fs|LAMA4_ENST00000424408.2_Frame_Shift_Ins_p.L1533fs|LAMA4_ENST00000389463.4_Frame_Shift_Ins_p.L1533fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1540	Laminin G-like 4. {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)		CTAATCTTCAGTTTTTTGTGAC	0.401																																					p.L1540fs		.											.	LAMA4-140	0			c.4618_4619insA						.																																			SO:0001589	frameshift_variant	3910	exon33			TCTTCAGTTTTTT		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.4618dupA	6.37:g.112441539_112441539dupT	ENSP00000230538:p.Leu1540fs	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	60	21	NM_001105206	0	0	0	0	0	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Ins	INS	ENST00000230538.7	37	CCDS43491.1																																																																																			.		0.401	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112441534	-	T	112441533	7	5	62	1	0	1	1	0	0	0	0	0	8636	1020	36	0	881	0	LAMA4	6	112441533	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	2643485	112441533	58673534	576	12944											
HDAC2	3066	hgsc.bcm.edu	37	chr6	114292035	114292035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccgtcgtagtagtagCagactttttttttgccgcct	9	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:114292035C>T	ENST00000519065.1	-	1	414	c.38G>A	c.(37-39)tGc>tAc	p.C13Y	RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000521888.1_RNA|HDAC2_ENST00000398283.2_Missense_Mutation_p.C107Y			Q92769	HDAC2_HUMAN	histone deacetylase 2	13	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GTAGTAGTAGCAGACTTTTTT	0.731																																					p.C13Y		.											.	HDAC2-660	0			c.G38A						.						2	2	2					6																	114292035		1367	3111	4478	SO:0001583	missense	3066	exon1			TAGTAGCAGACTT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.38G>A	6.37:g.114292035C>T	ENSP00000430432:p.Cys13Tyr	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	29	13	NM_001527	0	0	24	61	37	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263616	0.80358	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000425835;ENST00000521163	T;T;T	0.73047	-0.71;-0.71;1.61	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.76083	0.3938	M	0.79123	2.44	0.58432	D	0.999995	.	.	.	.	.	.	T	0.79885	-0.1614	8	0.87932	D	0	-13.1116	12.4943	0.55918	0.0:1.0:0.0:0.0	.	.	.	.	Y	13;107;3;13	ENSP00000430432:C13Y;ENSP00000381331:C107Y;ENSP00000417026:C3Y	ENSP00000381331:C107Y	C	-	2	0	HDAC2	114398728	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.400000	0.52594	2.383000	0.81215	0.561000	0.74099	TGC	.		0.731	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			T	114292035	C	T	114292035	3	4	62	1	0	0	0	0	1	0	0	0	7034	710	25	3	1484	3	HDAC2	6	114292035	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1850502	114292035	56823032	577	12945											
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	114378976	114378976	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctttctggaacctcctcTgtgataaaatatgctgggct	8	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:114378976T>C	ENST00000312719.5	-	5	1674	c.486A>G	c.(484-486)acA>acG	p.T162T	HS3ST5_ENST00000411826.1_Silent_p.T162T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	162					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)		GAACCTCCTCTGTGATAAAAT	0.393																																					p.T162T		.											.	HS3ST5-92	0			c.A486G						.						147	151	149					6																	114378976		2203	4300	6503	SO:0001819	synonymous_variant	222537	exon2			CTCCTCTGTGATA	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.486A>G	6.37:g.114378976T>C		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	103	54	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																			.		0.393	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		C	114378976	T	C	114378976	2	2	62	1	0	0	0	0	0	0	0	1	7395	1567	55	4		4	HS3ST5	6	114378976	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	86941	114378976	56736091	578	12946											
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	117665330	117665330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccataccatgtgaggtttgTcttggccagaggtaatctga	12	8	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:117665330T>C	ENST00000368508.3	-	27	4615	c.4417A>G	c.(4417-4419)Aca>Gca	p.T1473A	ROS1_ENST00000368507.3_Missense_Mutation_p.T1467A|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1473	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)		GTGAGGTTTGTCTTGGCCAGA	0.413			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																p.T1473A		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	.	ROS1-1353	0			c.A4417G						.						265	253	257					6																	117665330		2203	4300	6503	SO:0001583	missense	6098	exon27			GGTTTGTCTTGGC	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.4417A>G	6.37:g.117665330T>C	ENSP00000357494:p.Thr1473Ala	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	199	84	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	3.007	-0.204812	0.06180	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70164	-0.46;-0.45	5.16	2.72	0.32119	.	0.180773	0.39274	N	0.001420	T	0.23572	0.0570	N	0.19112	0.55	0.25143	N	0.99048	B	0.29862	0.259	B	0.22386	0.039	T	0.05084	-1.0907	10	0.39692	T	0.17	.	4.8869	0.13708	0.0:0.0962:0.1907:0.7131	.	1473	P08922	ROS1_HUMAN	A	1473;1467	ENSP00000357494:T1473A;ENSP00000357493:T1467A	ENSP00000357493:T1467A	T	-	1	0	ROS1	117772023	0.798000	0.28890	0.035000	0.18076	0.252000	0.25951	0.936000	0.28938	0.891000	0.36235	0.459000	0.35465	ACA	.		0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117665330	T	C	117665330	3	2	62	1	0	0	0	0	1	0	0	0	13576	1667	58	4	2694	4	ROS1	6	117665330	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3286354	117665330	53449737	579	12947											
C6orf170	221322	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	121427246	121427246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtagcatttcaatatAatgggtgctgcaaaaatata	7	6	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:121427246A>G	ENST00000398212.2	-	30	3437	c.3388T>C	c.(3388-3390)Tat>Cat	p.Y1130H	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y1171H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1130	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTTCAATATAATGGGTGCTG	0.358																																					p.Y1130H		.											.	C6orf170-92	0			c.T3388C						.						179	176	177					6																	121427246		1845	4090	5935	SO:0001583	missense	221322	exon30			CAATATAATGGGT	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.3388T>C	6.37:g.121427246A>G	ENSP00000381270:p.Tyr1130His	Somatic	190	2		WXS	Illumina GAIIx	Phase_I	180	69	NM_152730	0	0	2	3	1	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	9.092	1.001883	0.19121	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	5.06	3.9	0.45041	Rab-GAP/TBC domain (1);	0.061103	0.64402	D	0.000002	T	0.14442	0.0349	L	0.52364	1.645	0.45161	D	0.998179	P	0.36974	0.576	B	0.40009	0.316	T	0.02333	-1.1175	10	0.52906	T	0.07	.	10.5343	0.44994	0.9237:0.0:0.0763:0.0	.	1130	Q96NH3	BROMI_HUMAN	H	1171;1130	ENSP00000275159:Y1171H;ENSP00000381270:Y1130H	ENSP00000275159:Y1171H	Y	-	1	0	C6orf170	121468945	1.000000	0.71417	0.327000	0.25402	0.004000	0.04260	2.591000	0.46163	1.045000	0.40225	-0.270000	0.10280	TAT	.		0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		G	121427246	A	G	121427246	3	3	62	1	0	0	0	0	1	0	0	0	2351	362	13	4	397	4	C6orf170	6	121427246	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3761916	121427246	49687821	580	12948											
HEY2	23493	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	126080476	126080476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccatcatccgctccAcccgcatcactgggccgccg	7	22	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:126080476A>G	ENST00000368364.3	+	5	739	c.542A>G	c.(541-543)cAc>cGc	p.H181R	HEY2_ENST00000368365.1_Missense_Mutation_p.H135R	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	181	His-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CATCCGCTCCACCCGCATCAC	0.682																																					p.H181R		.											.	HEY2-658	0			c.A542G						.						76	80	79					6																	126080476		2203	4298	6501	SO:0001583	missense	23493	exon5			CGCTCCACCCGCA	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.542A>G	6.37:g.126080476A>G	ENSP00000357348:p.His181Arg	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	69	31	NM_012259	0	0	2	2	0		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993878	0.35131	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57907	0.37;0.37	5.49	5.49	0.81192	.	0.894418	0.09755	N	0.759981	T	0.38295	0.1035	L	0.36672	1.1	0.48632	D	0.999684	P	0.49185	0.92	P	0.46796	0.527	T	0.14035	-1.0487	10	0.23891	T	0.37	-23.645	15.5841	0.76468	1.0:0.0:0.0:0.0	.	181	Q9UBP5	HEY2_HUMAN	R	135;181	ENSP00000357349:H135R;ENSP00000357348:H181R	ENSP00000357348:H181R	H	+	2	0	HEY2	126122169	0.999000	0.42202	0.172000	0.22920	0.611000	0.37282	4.831000	0.62752	2.084000	0.62774	0.459000	0.35465	CAC	.		0.682	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			G	126080476	A	G	126080476	3	3	62	1	0	0	0	0	1	0	0	0	7106	159	6	4	560	4	HEY2	6	126080476	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4653230	126080476	45034591	581	12949											
CENPW	387103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	126667370	126667370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatctgaactgtttacTgtttgttcatcgattagcag	9	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:126667370T>G	ENST00000368328.4	+	2	246	c.146T>G	c.(145-147)cTg>cGg	p.L49R	CENPW_ENST00000368326.1_Intron|CENPW_ENST00000368325.1_Missense_Mutation_p.L64R			Q5EE01	CENPW_HUMAN	centromere protein W	49					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AACTGTTTACTGTTTGTTCAT	0.353																																					p.L49R		.											.	CENPW-90	0			c.T146G						.						122	118	119					6																	126667370		2203	4300	6503	SO:0001583	missense	387103	exon2			GTTTACTGTTTGT	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.146T>G	6.37:g.126667370T>G	ENSP00000357311:p.Leu49Arg	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	83	39	NM_001012507	0	0	39	72	33	A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843931	0.71488	.	.	ENSG00000203760	ENST00000368325;ENST00000368328	T	0.23950	1.88	5.74	5.74	0.90152	Histone-fold (1);	0.000000	0.34435	N	0.003965	T	0.40743	0.1129	.	.	.	0.33615	D	0.604109	D	0.89917	1.0	D	0.91635	0.999	T	0.51957	-0.8639	9	0.87932	D	0	0.4638	12.4337	0.55588	0.0:0.0:0.0:1.0	.	49	Q5EE01	CENPW_HUMAN	R	64;49	ENSP00000357311:L49R	ENSP00000357308:L64R	L	+	2	0	CENPW	126709063	0.997000	0.39634	0.744000	0.31058	0.979000	0.70002	4.704000	0.61831	2.179000	0.69175	0.533000	0.62120	CTG	.		0.353	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			G	126667370	T	G	126667370	3	3	62	1	0	0	0	0	1	0	0	0	3251	1580	55	5	152	5	CENPW	6	126667370	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	586894	126667370	44447697	582	12950											
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	129204502	129204502	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcacatcagcaaagaGgtacagtcgaggcatgggct	13	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:129204502G>C	ENST00000421865.2	+	1	161	c.112G>C	c.(112-114)Ggt>Cgt	p.G38R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	38	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGCAAAGAGGTACAGTCGA	0.632																																					p.G38R		.											.	LAMA2-162	0			c.G112C						.						24	21	22					6																	129204502		2194	4295	6489	SO:0001630	splice_region_variant	3908	exon1			CAAAGAGGTACAG	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.112+1G>C	6.37:g.129204502G>C		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	134	58	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135190	0.77662	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.30714	1.52	5.2	5.2	0.72013	Laminin, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.42517	0.1206	L	0.55834	1.745	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29305	-1.0016	10	0.62326	D	0.03	.	14.5792	0.68274	0.0:0.0:1.0:0.0	.	38;38	A6NF00;P24043	.;LAMA2_HUMAN	R	38	ENSP00000400365:G38R	ENSP00000346769:G38R	G	+	1	0	LAMA2	129246195	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.144000	0.58057	2.582000	0.87167	0.455000	0.32223	GGT	.		0.632	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation	C	129204502	G	C	129204502	5	2	62	1	0	0	0	0	0	0	1	0	8634	1014	35	3	114	3	LAMA2	6	129204502	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2537132	129204502	41910565	583	12951											
ARHGAP18	93663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	129950582	129950582	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttgctcggcaaatgaTacctccaggttgatgtctgt	11	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:129950582T>A	ENST00000368149.2	-	5	790	c.702A>T	c.(700-702)gtA>gtT	p.V234V		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CGGCAAATGATACCTCCAGGT	0.522																																					p.V234V		.											.	ARHGAP18-230	0			c.A702T						.						139	140	140					6																	129950582		2203	4300	6503	SO:0001819	synonymous_variant	93663	exon5			AAATGATACCTCC	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.702A>T	6.37:g.129950582T>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	59	30	NM_033515	0	0	29	53	24		Silent	SNP	ENST00000368149.2	37	CCDS34535.1																																																																																			.		0.522	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		A	129950582	T	A	129950582	2	1	62	1	0	0	0	0	0	0	0	1	868	1393	49	5		5	ARHGAP18	6	129950582	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	746080	129950582	41164485	584	12952											
MOXD1	26002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	132645213	132645213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccattgtgtaaaataaccTcagtccagaattatctatta	4	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:132645213T>A	ENST00000367963.3	-	7	1088	c.970A>T	c.(970-972)Agg>Tgg	p.R324W	MOXD1_ENST00000336749.3_Missense_Mutation_p.R256W|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	324						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)		TAAAATAACCTCAGTCCAGAA	0.388																																					p.R324W		.											.	MOXD1-515	0			c.A970T						.						99	100	100					6																	132645213		2203	4300	6503	SO:0001583	missense	26002	exon7			ATAACCTCAGTCC	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.970A>T	6.37:g.132645213T>A	ENSP00000356940:p.Arg324Trp	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	131	42	NM_015529	0	0	1	2	1	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872647	0.72180	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.37584	1.19;1.19	5.75	4.56	0.56223	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.053831	0.64402	D	0.000001	T	0.59891	0.2227	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71199	-0.4663	10	0.87932	D	0	-10.0972	11.7071	0.51603	0.0:0.0:0.2816:0.7184	.	324;256	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	W	324;256	ENSP00000356940:R324W;ENSP00000336998:R256W	ENSP00000336998:R256W	R	-	1	2	MOXD1	132686906	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.719000	0.38011	0.970000	0.38263	0.460000	0.39030	AGG	.		0.388	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		A	132645213	T	A	132645213	3	1	62	1	0	0	0	0	1	0	0	0	9758	1550	54	5	895	5	MOXD1	6	132645213	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2694631	132645213	38469854	585	12953											
IL20RA	53832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	137329836	137329836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaagagtgttcggctcCagccaggtgagcaccagcgt	13	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:137329836C>T	ENST00000316649.5	-	5	859	c.624G>A	c.(622-624)ctG>ctA	p.L208L	IL20RA_ENST00000367748.1_Silent_p.L97L|IL20RA_ENST00000541547.1_Silent_p.L159L|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	208	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTTCGGCTCCAGCCAGGTGA	0.567																																					p.L208L		.											.	IL20RA-94	0			c.G624A						.						79	70	73					6																	137329836		2203	4300	6503	SO:0001819	synonymous_variant	53832	exon5			CGGCTCCAGCCAG	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.624G>A	6.37:g.137329836C>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	108	36	NM_014432	0	0	5	9	4	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	CCDS5181.1																																																																																			.		0.567	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		T	137329836	C	T	137329836	2	4	62	1	0	0	0	0	0	0	0	1	7695	581	21	3		3	IL20RA	6	137329836	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4684623	137329836	33785231	586	12954											
REPS1	85021	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	139237076	139237076	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggagggggaggtgGtggtgcagtgttatcaggcg	21	5	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:139237076G>C	ENST00000450536.2	-	14	2213	c.1639C>G	c.(1639-1641)Cca>Gca	p.P547A	REPS1_ENST00000258062.5_Missense_Mutation_p.P546A|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000367663.4_Missense_Mutation_p.P520A|REPS1_ENST00000415951.2_Missense_Mutation_p.P520A			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	547	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GGGGGAGGTGGTGGTGCAGTG	0.448																																					p.P546A		.											.	REPS1-522	0			c.C1636G						.						138	117	124					6																	139237076		2203	4300	6503	SO:0001583	missense	85021	exon14			GAGGTGGTGGTGC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1639C>G	6.37:g.139237076G>C	ENSP00000392065:p.Pro547Ala	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	173	90	NM_031922	0	0	35	64	29	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.891962	0.91889	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.62232	0.07;0.04;0.34;0.11;0.11	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.77616	2.38	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.877	D;D;D;B	0.85130	0.997;0.996;0.994;0.411	T	0.66956	-0.5792	10	0.09084	T	0.74	-13.0978	20.422	0.99049	0.0:0.0:1.0:0.0	.	546;495;547;520	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	A	547;520;505;546;520;495	ENSP00000392065:P547A;ENSP00000356635:P520A;ENSP00000434251:P505A;ENSP00000258062:P546A;ENSP00000397941:P520A	ENSP00000258062:P546A	P	-	1	0	REPS1	139278769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.961000	0.93122	2.832000	0.97577	0.655000	0.94253	CCA	.		0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			C	139237076	G	C	139237076	3	2	62	1	0	0	0	0	1	0	0	0	13273	1261	44	3	779	3	REPS1	6	139237076	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1907240	139237076	31877991	587	12955											
HECA	51696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	139488123	139488123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcccactttgattacaGccctgcggggttggcagttc	11	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:139488123G>A	ENST00000367658.2	+	2	1259	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	325					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TTTGATTACAGCCCTGCGGGG	0.587																																					p.S325N		.											.	HECA-90	0			c.G974A						.						49	53	52					6																	139488123		2202	4300	6502	SO:0001583	missense	51696	exon2			ATTACAGCCCTGC	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.974G>A	6.37:g.139488123G>A	ENSP00000356630:p.Ser325Asn	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	33	14	NM_016217	0	0	4	5	1		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	7.037	0.561838	0.13498	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	2.29	0.28610	.	1.134390	0.06364	N	0.712249	T	0.11153	0.0272	N	0.14661	0.345	0.21499	N	0.999663	B	0.02656	0.0	B	0.04013	0.001	T	0.33954	-0.9848	9	0.33940	T	0.23	.	10.2609	0.43425	0.0695:0.2562:0.6743:0.0	.	325	Q9UBI9	HDC_HUMAN	N	325	.	ENSP00000356630:S325N	S	+	2	0	HECA	139529816	1.000000	0.71417	0.010000	0.14722	0.084000	0.17831	5.947000	0.70242	0.308000	0.22923	-0.300000	0.09419	AGC	.		0.587	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		A	139488123	G	A	139488123	3	1	62	1	0	0	0	0	1	0	0	0	7065	971	34	3	980	3	HECA	6	139488123	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	251047	139488123	31626944	588	12956											
HIVEP2	3097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	143074762	143074762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttagaaagcacataggGgtccttggagaaggactccc	12	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:143074762G>T	ENST00000367604.1	-	9	7462	c.6823C>A	c.(6823-6825)Ccc>Acc	p.P2275T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2275T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2275T|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2275					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)		AGCACATAGGGGTCCTTGGAG	0.552																																					p.P2275T	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2-95	0			c.C6823A						.						66	69	68					6																	143074762		1965	4157	6122	SO:0001583	missense	3097	exon10			CATAGGGGTCCTT	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.6823C>A	6.37:g.143074762G>T	ENSP00000356576:p.Pro2275Thr	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	81	40	NM_006734	0	0	9	12	3	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019228	0.02078	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02421	4.3;4.3;4.3	5.78	4.9	0.64082	.	0.194227	0.56097	D	0.000036	T	0.01454	0.0047	L	0.55481	1.735	0.32995	D	0.525496	B	0.26318	0.146	B	0.24974	0.057	T	0.40156	-0.9578	10	0.46703	T	0.11	-11.5256	8.1697	0.31247	0.1053:0.1582:0.7365:0.0	.	2275	P31629	ZEP2_HUMAN	T	2275	ENSP00000356576:P2275T;ENSP00000356575:P2275T;ENSP00000012134:P2275T	ENSP00000012134:P2275T	P	-	1	0	HIVEP2	143116455	0.991000	0.36638	0.998000	0.56505	0.074000	0.17049	2.422000	0.44696	1.411000	0.46957	0.655000	0.94253	CCC	.		0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143074762	G	T	143074762	3	4	62	1	0	0	0	0	1	0	0	0	7214	1232	43	3	521	3	HIVEP2	6	143074762	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3586639	143074762	28040305	589	12957											
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	145160331	145160331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgattcccgaatcaAtggtgtttccccatgggctt	9	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:145160331A>G	ENST00000367545.3	+	71	10088	c.10088A>G	c.(10087-10089)aAt>aGt	p.N3363S	UTRN_ENST00000367526.4_Missense_Mutation_p.N918S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3363					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)		TCCCGAATCAATGGTGTTTCC	0.483																																					p.N3363S		.											.	UTRN-95	0			c.A10088G						.						132	116	121					6																	145160331		2203	4300	6503	SO:0001583	missense	7402	exon71			GAATCAATGGTGT	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.10088A>G	6.37:g.145160331A>G	ENSP00000356515:p.Asn3363Ser	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	31	10	NM_007124	0	0	13	26	13	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265968	0.40095	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.61742	0.08;3.44	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000020	T	0.57184	0.2036	M	0.65498	2.005	0.35579	D	0.80615	P	0.37015	0.578	P	0.46076	0.503	T	0.65759	-0.6090	10	0.66056	D	0.02	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	3363	P46939	UTRO_HUMAN	S	3363;918	ENSP00000356515:N3363S;ENSP00000356496:N918S	ENSP00000356496:N918S	N	+	2	0	UTRN	145202024	1.000000	0.71417	0.962000	0.40283	0.233000	0.25261	7.089000	0.76909	2.324000	0.78689	0.533000	0.62120	AAT	.		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	145160331	A	G	145160331	3	3	62	1	0	0	0	0	1	0	0	0	17152	101	4	4	10370	4	UTRN	6	145160331	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2085569	145160331	25954736	590	12958											
SHPRH	257218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	146214396	146214396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctatggcctgaagctcaTgggcagggttcaatatgggc	13	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:146214396T>C	ENST00000367505.2	-	28	5093	c.4829A>G	c.(4828-4830)cAt>cGt	p.H1610R	SHPRH_ENST00000367503.3_Missense_Mutation_p.H1614R|SHPRH_ENST00000275233.7_Missense_Mutation_p.H1610R|SHPRH_ENST00000438092.2_Missense_Mutation_p.H1614R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1610	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGAAGCTCATGGGCAGGGTT	0.433																																					p.H1614R		.											.	SHPRH-92	0			c.A4841G						.						92	89	90					6																	146214396		1863	4098	5961	SO:0001583	missense	257218	exon28			AGCTCATGGGCAG	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.4829A>G	6.37:g.146214396T>C	ENSP00000356475:p.His1610Arg	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	155	72	NM_173082	0	0	7	8	1	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512340	0.64522	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.44	4.27	0.50696	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	N	0.17312	0.475	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.10660	-1.0620	10	0.22109	T	0.4	-17.2753	11.3497	0.49581	0.0:0.0716:0.0:0.9284	.	1610;1614	Q149N8;Q149N8-4	SHPRH_HUMAN;.	R	32;58;1610;1614;1614;1610	ENSP00000403790:H32R;ENSP00000356475:H1610R;ENSP00000356473:H1614R;ENSP00000412797:H1614R;ENSP00000275233:H1610R	ENSP00000275233:H1610R	H	-	2	0	SHPRH	146256089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	0.890000	0.36211	0.477000	0.44152	CAT	.		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		C	146214396	T	C	146214396	3	2	62	1	0	0	0	0	1	0	0	0	14336	1464	51	4	251	4	SHPRH	6	146214396	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1054065	146214396	24900671	591	12959											
SHPRH	257218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	146248371	146248371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtgttcctccgaggagCgcaacacttctctgtacaat	8	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:146248371C>T	ENST00000367505.2	-	15	3419	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	SHPRH_ENST00000367503.3_Missense_Mutation_p.R1061H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1052H|SHPRH_ENST00000438092.2_Missense_Mutation_p.R1061H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1052					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)		CTCCGAGGAGCGCAACACTTC	0.348																																					p.R1061H		.											.	SHPRH-92	0			c.G3182A						.						136	118	123					6																	146248371		1855	4099	5954	SO:0001583	missense	257218	exon15			GAGGAGCGCAACA	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.3155G>A	6.37:g.146248371C>T	ENSP00000356475:p.Arg1052His	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	47	7	NM_173082	0	0	3	3	0	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.431050	0.96150	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75589	-0.95;-0.94;-0.93;-0.95	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.85274	0.5659	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84677	0.0715	10	0.52906	T	0.07	-17.2758	19.8769	0.96880	0.0:1.0:0.0:0.0	.	1052;1061	Q149N8;Q149N8-4	SHPRH_HUMAN;.	H	1052;1061;1061;1052	ENSP00000356475:R1052H;ENSP00000356473:R1061H;ENSP00000412797:R1061H;ENSP00000275233:R1052H	ENSP00000275233:R1052H	R	-	2	0	SHPRH	146290064	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.464000	0.80887	2.767000	0.95098	0.557000	0.71058	CGC	.		0.348	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146248371	C	T	146248371	3	4	62	1	0	0	0	0	1	0	0	0	14336	768	27	1	1977	1	SHPRH	6	146248371	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	33975	146248371	24866696	592	12960											
LRP11	84918	hgsc.bcm.edu	37	chr6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtagccgccgctgcccGggcccgggcagtcctcctgg	15	18	0	0	rs9322225	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|LRP11_ENST00000546019.1_Intron	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2	2	2		275	3	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	7	NM_032832	0	0	2	3	1	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		C	150184882	G	C	150184882	3	2	62	1	0	0	0	0	1	0	0	0	8988	1116	39	2	1255	2	LRP11	6	150184882	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3936511	150184882	20930185	593	12961											
RAET1L	154064	broad.mit.edu;bcgsc.ca	37	chr6	150343331	150343331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacaccaccgtggtccaGgtctgaacttagggatgacg	12	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:150343331G>T	ENST00000367341.1	-	2	133	c.134C>A	c.(133-135)cCt>cAt	p.P45H	RAET1L_ENST00000286380.2_Missense_Mutation_p.P45H			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	45	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CCGTGGTCCAGGTCTGAACTT	0.542																																					p.P45H		.											.	RAET1L-90	0			c.C134A						.						6	5	5					6																	150343331		1378	2539	3917	SO:0001583	missense	154064	exon2			GGTCCAGGTCTGA	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.134C>A	6.37:g.150343331G>T	ENSP00000356310:p.Pro45His	Somatic	521	1		WXS	Illumina GAIIx	Phase_I	583	162	NM_130900	0	0	162	162	0	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	9.719	1.159142	0.21454	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.07800	3.16;3.16	1.91	1.01	0.19927	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.05318	0.0141	L	0.52206	1.635	0.09310	N	1	P	0.48407	0.91	P	0.53912	0.737	T	0.30416	-0.9979	9	0.39692	T	0.17	.	4.3368	0.11090	0.2092:0.0:0.7908:0.0	.	45	Q5VY80	RET1L_HUMAN	H	45	ENSP00000356310:P45H;ENSP00000286380:P45H	ENSP00000286380:P45H	P	-	2	0	RAET1L	150385024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.076000	0.14712	0.364000	0.24374	-0.339000	0.08088	CCT	.		0.542	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		T	150343331	G	T	150343331	3	4	62	1	0	0	0	0	1	0	0	0	13046	1000	35	3	617	3	RAET1L	6	150343331	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	158449	150343331	20771736	594	12962											
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	151672050	151672050	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggccaacgaagatgactctGatgtcccggccgtggtccct	13	13	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:151672050G>T	ENST00000253332.1	+	3	2713	c.2524G>T	c.(2524-2526)Gat>Tat	p.D842Y	AKAP12_ENST00000359755.5_Missense_Mutation_p.D737Y|AKAP12_ENST00000354675.6_Missense_Mutation_p.D744Y|AKAP12_ENST00000402676.2_Missense_Mutation_p.D842Y			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	842					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)		AGATGACTCTGATGTCCCGGC	0.532																																					p.D842Y	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.G2524T						.						91	103	99					6																	151672050		2203	4300	6503	SO:0001583	missense	9590	exon4			GACTCTGATGTCC	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.2524G>T	6.37:g.151672050G>T	ENSP00000253332:p.Asp842Tyr	Somatic	243	1		WXS	Illumina GAIIx	Phase_I	317	131	NM_005100	0	0	4	4	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992864	0.74703	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.16196	2.36;2.36;2.38;2.38	5.49	4.63	0.57726	.	0.000000	0.45361	D	0.000378	T	0.32823	0.0842	M	0.77103	2.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.988	T	0.26573	-1.0099	10	0.72032	D	0.01	.	14.3966	0.67015	0.0708:0.0:0.9292:0.0	.	737;744;842	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Y	842;842;744;737	ENSP00000384537:D842Y;ENSP00000253332:D842Y;ENSP00000346702:D744Y;ENSP00000352794:D737Y	ENSP00000253332:D842Y	D	+	1	0	AKAP12	151713743	1.000000	0.71417	0.103000	0.21229	0.018000	0.09664	9.869000	0.99810	1.326000	0.45319	0.561000	0.74099	GAT	.		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			T	151672050	G	T	151672050	3	4	62	1	0	0	0	0	1	0	0	0	448	1290	45	3	2563	3	AKAP12	6	151672050	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1328719	151672050	19443017	595	12963											
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	151673402	151673402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctatagacacaggcatAacagtcagtcgggaaaaggt	13	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:151673402A>G	ENST00000253332.1	+	3	4065	c.3876A>G	c.(3874-3876)atA>atG	p.I1292M	AKAP12_ENST00000359755.5_Missense_Mutation_p.I1187M|AKAP12_ENST00000354675.6_Missense_Mutation_p.I1194M|AKAP12_ENST00000402676.2_Missense_Mutation_p.I1292M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1292					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)		ACACAGGCATAACAGTCAGTC	0.463																																					p.I1292M	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.A3876G						.						88	86	86					6																	151673402		2203	4300	6503	SO:0001583	missense	9590	exon4			AGGCATAACAGTC	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.3876A>G	6.37:g.151673402A>G	ENSP00000253332:p.Ile1292Met	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	239	107	NM_005100	0	0	3	3	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	A	8.552	0.875698	0.17395	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07688	3.17;3.17;3.18;3.18	4.26	1.81	0.25067	.	2.531320	0.01669	N	0.025482	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20780	0.048;0.048;0.028	B;B;B	0.16289	0.015;0.015;0.006	T	0.38564	-0.9655	10	0.48119	T	0.1	.	5.4724	0.16678	0.5381:0.0:0.4619:0.0	.	1187;1194;1292	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	1292;1292;1194;1187	ENSP00000384537:I1292M;ENSP00000253332:I1292M;ENSP00000346702:I1194M;ENSP00000352794:I1187M	ENSP00000253332:I1292M	I	+	3	3	AKAP12	151715095	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	0.696000	0.31696	0.455000	0.32223	ATA	.		0.463	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151673402	A	G	151673402	3	3	62	1	0	0	0	0	1	0	0	0	448	352	13	4	3915	4	AKAP12	6	151673402	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1352	151673402	19441665	596	12964											
CNKSR3	154043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	154732089	154732089	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataagatggtgttttctctcTcatttttgtgggcagaatgt	10	5	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:154732089T>A	ENST00000607772.1	-	11	1802	c.1258A>T	c.(1258-1260)Aga>Tga	p.R420*	CNKSR3_ENST00000433165.2_Nonsense_Mutation_p.R245*|CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.R340*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	420	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTTTTCTCTCTCATTTTTGTG	0.493																																					p.R420X		.											.	CNKSR3-26	0			c.A1258T						.						169	159	163					6																	154732089		2203	4300	6503	SO:0001587	stop_gained	154043	exon11			TCTCTCTCATTTT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1258A>T	6.37:g.154732089T>A	ENSP00000475915:p.Arg420*	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	113	40	NM_173515	0	0	4	4	0	Q5SGD5|Q96N65	Nonsense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	T	42	9.436998	0.99171	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	.	.	.	5.55	5.55	0.83447	.	0.164121	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.71	0.77620	0.0:0.0:0.0:1.0	.	.	.	.	X	420;245;340	.	ENSP00000356182:R420X	R	-	1	2	CNKSR3	154773781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.774000	0.55341	2.105000	0.64084	0.533000	0.62120	AGA	.		0.493	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		A	154732089	T	A	154732089	4	1	62	1	0	0	0	0	0	1	0	0	3615	1559	54	5	421	5	CNKSR3	6	154732089	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3058687	154732089	16382978	597	12965											
CNKSR3	154043	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	154732101	154732101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctctcatttttgtggGcagaatgttggtttccaccg	9	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:154732101G>A	ENST00000607772.1	-	11	1790	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	CNKSR3_ENST00000433165.2_Missense_Mutation_p.P241S|CNKSR3_ENST00000479339.1_Missense_Mutation_p.P336S	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	416	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATTTTTGTGGGCAGAATGTTG	0.502																																					p.P416S		.											.	CNKSR3-26	0			c.C1246T						.						179	170	173					6																	154732101		2203	4300	6503	SO:0001583	missense	154043	exon11			TTGTGGGCAGAAT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1246C>T	6.37:g.154732101G>A	ENSP00000475915:p.Pro416Ser	Somatic	109	0		WXS	Illumina GAIIx	Phase_I	126	48	NM_173515	0	0	1	1	0	Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262859	0.39995	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998	T;T;T	0.42513	1.57;0.97;0.98	5.82	4.94	0.65067	Connector enhancer of kinase suppressor of ras 2 (1);	0.177523	0.49305	D	0.000145	T	0.27384	0.0672	L	0.47716	1.5	0.34900	D	0.746411	B	0.27910	0.193	B	0.30716	0.119	T	0.25745	-1.0123	10	0.72032	D	0.01	.	17.0244	0.86441	0.0:0.1272:0.8728:0.0	.	416	Q6P9H4	CNKR3_HUMAN	S	191;416;241;336;178	ENSP00000356182:P416S;ENSP00000414185:P241S;ENSP00000418975:P336S	ENSP00000356178:P191S	P	-	1	0	CNKSR3	154773793	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.376000	0.73141	1.448000	0.47680	0.655000	0.94253	CCC	.		0.502	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		A	154732101	G	A	154732101	3	1	62	1	0	0	0	0	1	0	0	0	3615	1203	42	3	433	3	CNKSR3	6	154732101	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	12	154732101	16382966	598	12966											
SYTL3	94120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	159166688	159166688	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaagaaaaagtgcaaTccgtaagttgttttttttaa	8	3	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:159166688T>A	ENST00000297239.9	+	11	1226	c.1032T>A	c.(1030-1032)aaT>aaA	p.N344K	SYTL3_ENST00000367081.3_Missense_Mutation_p.N70K|SYTL3_ENST00000360448.3_Missense_Mutation_p.N276K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	344	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAAAGTGCAATCCGTAAGTTG	0.289																																					p.N344K		.											.	SYTL3-90	0			c.T1032A						.						54	52	53					6																	159166688		2202	4300	6502	SO:0001583	missense	94120	exon13			GTGCAATCCGTAA	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.1032T>A	6.37:g.159166688T>A	ENSP00000297239:p.Asn344Lys	Somatic	44	0		WXS	Illumina GAIIx	Phase_I	41	15	NM_001242384	0	0	0	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083579	0.76642	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.08370	3.1;3.1;3.1	5.51	-0.737	0.11129	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.195391	0.44483	D	0.000452	T	0.21347	0.0514	M	0.93106	3.38	0.44918	D	0.997933	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.16958	-1.0385	10	0.87932	D	0	-25.6732	9.737	0.40395	0.0:0.5802:0.0:0.4198	.	70;344;276	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	K	276;344;344;70	ENSP00000353631:N276K;ENSP00000297239:N344K;ENSP00000356048:N70K	ENSP00000297239:N344K	N	+	3	2	SYTL3	159086676	0.622000	0.27085	1.000000	0.80357	0.988000	0.76386	-0.401000	0.07232	0.084000	0.17077	0.533000	0.62120	AAT	.		0.289	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159166688	T	A	159166688	3	1	62	1	0	0	0	0	1	0	0	0	15531	1432	50	5	854	5	SYTL3	6	159166688	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4434587	159166688	11948379	599	12967											
SLC22A3	6581	broad.mit.edu;bcgsc.ca	37	chr6	160819024	160819024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagtttgaccttgtctGtgtcaatgcgtggatgctgg	12	8	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:160819024G>C	ENST00000275300.2	+	2	595	c.443G>C	c.(442-444)tGt>tCt	p.C148S	SLC22A3_ENST00000392145.1_Missense_Mutation_p.C148S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	148					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GACCTTGTCTGTGTCAATGCG	0.458																																					p.C148S		.											.	SLC22A3-517	0			c.G443C						.						249	224	232					6																	160819024		2203	4300	6503	SO:0001583	missense	6581	exon2			TTGTCTGTGTCAA	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.443G>C	6.37:g.160819024G>C	ENSP00000275300:p.Cys148Ser	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	106	5	NM_021977	0	0	0	0	0	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594907	0.66219	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.81078	-1.45;-1.45	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93048	0.6463	10	0.87932	D	0	.	17.1604	0.86802	0.0:0.0:1.0:0.0	.	148	O75751	S22A3_HUMAN	S	148	ENSP00000275300:C148S;ENSP00000375989:C148S	ENSP00000275300:C148S	C	+	2	0	SLC22A3	160739014	1.000000	0.71417	0.994000	0.49952	0.507000	0.33981	6.725000	0.74752	2.481000	0.83766	0.555000	0.69702	TGT	.		0.458	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		C	160819024	G	C	160819024	3	2	62	1	0	0	0	0	1	0	0	0	14500	1377	48	3	449	3	SLC22A3	6	160819024	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1652336	160819024	10296043	600	12968											
LPA	4018	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	161006174	161006174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagtggtggagagtgtgCctcgataactctgtccatca	12	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:161006174C>T	ENST00000316300.5	-	26	4237	c.4193G>A	c.(4192-4194)gGc>gAc	p.G1398D	LPA_ENST00000447678.1_Missense_Mutation_p.G1398D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3906	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGAGTGTGCCTCGATAACT	0.463																																					p.G1398D		.											.	LPA-74	0			c.G4193A						.						220	219	219					6																	161006174		2191	4296	6487	SO:0001583	missense	4018	exon27			AGTGTGCCTCGAT	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4193G>A	6.37:g.161006174C>T	ENSP00000321334:p.Gly1398Asp	Somatic	225	2		WXS	Illumina GAIIx	Phase_I	311	141	NM_005577	0	0	0	0	0	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	9.993	1.231295	0.22626	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.92149	-2.98;-2.98	2.41	2.41	0.29592	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.97210	0.9088	H	0.99811	4.8	0.28737	N	0.902192	D	0.89917	1.0	D	0.97110	1.0	D	0.91090	0.4906	9	0.87932	D	0	.	8.2827	0.31910	0.0:1.0:0.0:0.0	.	3906	P08519	APOA_HUMAN	D	1398	ENSP00000321334:G1398D;ENSP00000395608:G1398D	ENSP00000321334:G1398D	G	-	2	0	LPA	160926164	0.995000	0.38212	0.218000	0.23776	0.010000	0.07245	4.546000	0.60705	1.323000	0.45263	0.436000	0.28706	GGC	.		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161006174	C	T	161006174	3	4	62	1	0	0	0	0	1	0	0	0	8938	739	26	3	1985	3	LPA	6	161006174	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	187150	161006174	10108893	601	12969											
MAP3K4	4216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	161510389	161510389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagttgtcatgcagtctgcGcatctcacaattcagagaaa	8	10	4	1	rs186715923		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:161510389G>A	ENST00000392142.4	+	11	3007	c.2859G>A	c.(2857-2859)gcG>gcA	p.A953A	MAP3K4_ENST00000348824.7_Silent_p.A953A|MAP3K4_ENST00000366920.2_Silent_p.A953A|MAP3K4_ENST00000366919.2_Silent_p.A953A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	953					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGTCTGCGCATCTCACAA	0.448													C|||	1	0.000199681	0	0	5008	,	,		21088	0.001		0	False		,,,				2504	0				p.A953A		.											.	MAP3K4-548	0			c.G2859A						.						180	175	177					6																	161510389		2203	4300	6503	SO:0001819	synonymous_variant	4216	exon11			GTCTGCGCATCTC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2859G>A	6.37:g.161510389G>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	89	29	NM_006724	0	0	6	6	0	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																			G|0.999;A|0.000		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			A	161510389	G	A	161510389	2	1	62	1	0	0	0	0	0	0	0	1	9290	1074	38	1		1	MAP3K4	6	161510389	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	504215	161510389	9604678	602	12970											
QKI	9444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	163984721	163984721	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caccagctacatcaatccttGagtatcctattgaacctagt	5	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:163984721G>C	ENST00000361752.3	+	6	1455	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q|QKI_ENST00000392127.2_Missense_Mutation_p.E302Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	302					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATCAATCCTTGAGTATCCTAT	0.423																																					p.E302Q		.											.	QKI-290	0			c.G904C						.						129	129	129					6																	163984721		2203	4300	6503	SO:0001583	missense	9444	exon6			ATCCTTGAGTATC	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.904G>C	6.37:g.163984721G>C	ENSP00000355094:p.Glu302Gln	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	82	39	NM_206853	0	0	45	79	34	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903913|3.903913	0.72754|0.72754	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.107189|.	0.64402|.	D|.	0.000002|.	T|.	0.67325|.	0.2881|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.51537|.	0.824;0.911;0.865;0.946;0.607;0.607|.	B;B;B;P;B;B|.	0.46253|.	0.263;0.376;0.301;0.509;0.187;0.187|.	T|.	0.63084|.	-0.6716|.	9|.	0.54805|.	T|.	0.06|.	-2.7325|-2.7325	19.9189|19.9189	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;302;294;302;302;302|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	Q|S	302;302;302;302;294;294|198;135	.|.	ENSP00000275262:E302Q|.	E|X	+|+	1|2	0|2	QKI|QKI	163904711|163904711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAG|TGA	.		0.423	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		C	163984721	G	C	163984721	3	2	62	1	0	0	0	0	1	0	0	0	12918	1291	45	3	926	3	QKI	6	163984721	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2474332	163984721	7130346	603	12971											
C6orf118	168090	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	165703533	165703533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagtaagtcggttttcatCaattatatgtttctcagatg	8	5	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:165703533C>T	ENST00000230301.8	-	7	1164	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	382										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CGGTTTTCATCAATTATATGT	0.284																																					p.D382N		.											.	C6orf118-90	0			c.G1144A						.						54	53	53					6																	165703533		2203	4295	6498	SO:0001583	missense	168090	exon7			TTTCATCAATTAT		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1144G>A	6.37:g.165703533C>T	ENSP00000230301:p.Asp382Asn	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	32	4	NM_144980	0	0	0	0	0	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100633	0.56183	.	.	ENSG00000112539	ENST00000230301	T	0.12774	2.65	5.36	0.0993	0.14502	.	1.081430	0.07033	N	0.828831	T	0.04318	0.0119	L	0.52573	1.65	0.09310	N	1	B	0.29432	0.244	B	0.28553	0.091	T	0.44221	-0.9342	10	0.52906	T	0.07	-9.1624	4.4004	0.11383	0.0:0.4538:0.1605:0.3857	.	382	Q5T5N4	CF118_HUMAN	N	382	ENSP00000230301:D382N	ENSP00000230301:D382N	D	-	1	0	C6orf118	165623523	0.051000	0.20477	0.000000	0.03702	0.002000	0.02628	0.580000	0.23803	0.013000	0.14918	0.650000	0.86243	GAT	.		0.284	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		T	165703533	C	T	165703533	3	4	62	1	0	0	0	0	1	0	0	0	2330	826	29	3	277	3	C6orf118	6	165703533	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1718812	165703533	5411534	604	12972											
FGFR1OP	11116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167417212	167417212	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttgatctttataggTcgtttagtggctagtcttgt	9	5	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167417212T>C	ENST00000366847.4	+	4	444	c.213T>C	c.(211-213)ggT>ggC	p.G71G	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Splice_Site_p.G71G	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	71	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				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)		TCTTTATAGGTCGTTTAGTGG	0.294			T	FGFR1	"MPD, NHL"																																p.G71G		.		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	FGFR1OP-683	0			c.T213C						.						112	106	108					6																	167417212		2200	4297	6497	SO:0001630	splice_region_variant	11116	exon4			TATAGGTCGTTTA	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.212-1T>C	6.37:g.167417212T>C		Somatic	47	0		WXS	Illumina GAIIx	Phase_I	53	23	NM_007045	0	0	0	0	0	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	37	CCDS5296.1																																																																																			.		0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent	C	167417212	T	C	167417212	5	2	62	1	0	0	0	0	0	0	1	0	5886	1681	58	4	227	4	FGFR1OP	6	167417212	Splice_Site	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1713679	167417212	3697855	605	12973											
CCR6	1235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167549924	167549924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatattctggtggtgaTcacctttgctttttataaga	11	5	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167549924T>A	ENST00000341935.5	+	3	758	c.206T>A	c.(205-207)aTc>aAc	p.I69N	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Missense_Mutation_p.I69N|CCR6_ENST00000400926.2_Missense_Mutation_p.I69N	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	69					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTGGTGGTGATCACCTTTGCT	0.478																																					p.I69N		.											.	CCR6-227	0			c.T206A						.						175	174	175					6																	167549924		2203	4300	6503	SO:0001583	missense	1235	exon3			TGGTGATCACCTT	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.206T>A	6.37:g.167549924T>A	ENSP00000343952:p.Ile69Asn	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	199	76	NM_004367	0	0	1	1	0	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814688	0.32053	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.39592	1.07;1.07;1.07	4.72	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.608193	0.14610	U	0.309062	T	0.35682	0.0940	M	0.79693	2.465	0.29219	N	0.87404	P	0.40553	0.721	P	0.45474	0.482	T	0.29971	-0.9994	10	0.87932	D	0	.	9.4411	0.38668	0.0:0.0851:0.0:0.9149	.	69	P51684	CCR6_HUMAN	N	69	ENSP00000383715:I69N;ENSP00000343952:I69N;ENSP00000339393:I69N	ENSP00000343952:I69N	I	+	2	0	CCR6	167469914	0.992000	0.36948	0.912000	0.35992	0.025000	0.11179	2.886000	0.48578	0.653000	0.30826	-0.379000	0.06801	ATC	.		0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			A	167549924	T	A	167549924	3	1	62	1	0	0	0	0	1	0	0	0	2952	1435	50	5	212	5	CCR6	6	167549924	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	132712	167549924	3565143	606	12974											
CCR6	1235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167550007	167550007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcagacatcctctttgttCttactctcccattctgggca	6	13	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167550007C>G	ENST00000341935.5	+	3	841	c.289C>G	c.(289-291)Ctt>Gtt	p.L97V	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Missense_Mutation_p.L97V|CCR6_ENST00000400926.2_Missense_Mutation_p.L97V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	97					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCTCTTTGTTCTTACTCTCCC	0.458																																					p.L97V		.											.	CCR6-227	0			c.C289G						.						141	142	142					6																	167550007		2203	4300	6503	SO:0001583	missense	1235	exon3			TTTGTTCTTACTC	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.289C>G	6.37:g.167550007C>G	ENSP00000343952:p.Leu97Val	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	141	56	NM_004367	0	0	0	0	0	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	5.141	0.211638	0.09757	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.41065	1.01;1.01;1.01	4.87	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.342320	0.23108	U	0.051840	T	0.18002	0.0432	L	0.33093	0.98	0.43279	D	0.995246	B	0.33379	0.41	B	0.37091	0.241	T	0.04413	-1.0953	10	0.39692	T	0.17	.	8.7598	0.34667	0.0:0.8271:0.0:0.1729	.	97	P51684	CCR6_HUMAN	V	97	ENSP00000383715:L97V;ENSP00000343952:L97V;ENSP00000339393:L97V	ENSP00000343952:L97V	L	+	1	0	CCR6	167469997	1.000000	0.71417	0.726000	0.30738	0.012000	0.07955	1.568000	0.36418	1.032000	0.39892	-0.258000	0.10820	CTT	.		0.458	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			G	167550007	C	G	167550007	3	3	62	1	0	0	0	0	1	0	0	0	2952	913	32	3	295	3	CCR6	6	167550007	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	83	167550007	3565060	607	12975											
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	169622343	169622343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcctcaggtgctcgccCgtccccgtggtggagttcac	13	15	2	0	rs149118318		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:169622343C>T	ENST00000366787.3	-	20	3471	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1074	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			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)		GGTGCTCGCCCGTCCCCGTGG	0.667																																					p.T1074T	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G3222A						.	C		1,4405	2.1+/-5.4	0,1,2202	55	52	53		3222	-8.4	0.1	6	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1074/1173	169622343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058	exon20			CTCGCCCGTCCCC		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.3222G>A	6.37:g.169622343C>T		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	107	45	NM_003247	0	0	2	2	0	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			C|1.000;T|0.000		0.667	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169622343	C	T	169622343	2	4	62	1	0	0	0	0	0	0	0	1	15901	639	23	1		1	THBS2	6	169622343	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2072336	169622343	1492724	608	12976											
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	169648601	169648601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagggctcgtccagagCgaagctgtctatgaggtcgc	15	9	1	3	rs144458205		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:169648601C>T	ENST00000366787.3	-	4	769	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	174	Heparin-binding. {ECO:0000255}.|Laminin G-like.				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)		TCGTCCAGAGCGAAGCTGTCT	0.617																																					p.A174T	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G520A						.						75	70	71					6																	169648601		2203	4300	6503	SO:0001583	missense	7058	exon4			CCAGAGCGAAGCT		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.520G>A	6.37:g.169648601C>T	ENSP00000355751:p.Ala174Thr	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	182	65	NM_003247	0	0	0	0	0	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	5.862	0.343283	0.11069	.	.	ENSG00000186340	ENST00000366787	T	0.02015	4.5	4.5	-8.99	0.00751	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.629214	0.12838	N	0.435028	T	0.00178	0.0005	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40997	-0.9533	10	0.16420	T	0.52	-9.5336	4.3571	0.11183	0.1074:0.4411:0.2192:0.2322	.	174	P35442	TSP2_HUMAN	T	174	ENSP00000355751:A174T	ENSP00000355751:A174T	A	-	1	0	THBS2	169390526	0.963000	0.33076	0.013000	0.15412	0.357000	0.29423	0.591000	0.23969	-1.956000	0.01022	-1.008000	0.02478	GCT	C|1.000;A|0.000		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169648601	C	T	169648601	3	4	62	1	0	0	0	0	1	0	0	0	15901	768	27	1	3078	1	THBS2	6	169648601	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	26258	169648601	1466466	609	12977											
PSMB1	5689	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	170846402	170846402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctggtaagaccctactgGatcaaagctgtatacagccc	8	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:170846402G>A	ENST00000262193.6	-	5	558	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GACCCTACTGGATCAAAGCTG	0.453																																					p.P154S		.											.	PSMB1-91	0			c.C460T						.						81	69	73					6																	170846402		2203	4300	6503	SO:0001583	missense	5689	exon5			CTACTGGATCAAA	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.460C>T	6.37:g.170846402G>A	ENSP00000262193:p.Pro154Ser	Somatic	86	1		WXS	Illumina GAIIx	Phase_I	111	46	NM_002793	0	1	213	359	145	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.765658	0.90020	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.28255	1.62	4.88	4.88	0.63580	.	0.048334	0.85682	D	0.000000	T	0.50854	0.1640	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56619	-0.7949	10	0.72032	D	0.01	-6.7389	18.3975	0.90504	0.0:0.0:1.0:0.0	.	154	P20618	PSB1_HUMAN	S	154;159	ENSP00000262193:P154S	ENSP00000262193:P154S	P	-	1	0	PSMB1	170688327	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	8.839000	0.92120	2.412000	0.81896	0.455000	0.32223	CCA	.		0.453	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		A	170846402	G	A	170846402	3	1	62	1	0	0	0	0	1	0	0	0	12716	1174	41	3	273	3	PSMB1	6	170846402	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1197801	170846402	268665	610	12978											
PSMB1	5689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	170862286	170862286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtgcggttccatcccCaagtctctgccaggagccga	11	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:170862286C>A	ENST00000262193.6	-	1	143	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBP_ENST00000230354.6_5'Flank|TBP_ENST00000540980.1_5'Flank|TBP_ENST00000392092.2_5'Flank|PSMB1_ENST00000462957.1_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GTTCCATCCCCAAGTCTCTGC	0.592																																					p.L15F		.											.	PSMB1-91	0			c.G45T						.						43	39	40					6																	170862286		2203	4299	6502	SO:0001583	missense	5689	exon1			CATCCCCAAGTCT	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.45G>T	6.37:g.170862286C>A	ENSP00000262193:p.Leu15Phe	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	59	25	NM_002793	0	0	1	1	0	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.856110	0.02630	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.22336	1.96	4.37	3.49	0.39957	.	0.909437	0.09237	N	0.829788	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	0.999997	B	0.26876	0.162	B	0.27887	0.084	T	0.43766	-0.9371	10	0.13470	T	0.59	-0.0798	8.5655	0.33536	0.0:0.7583:0.1544:0.0873	.	15	P20618	PSB1_HUMAN	F	15;20	ENSP00000262193:L15F	ENSP00000262193:L15F	L	-	3	2	PSMB1	170704211	0.368000	0.25031	0.086000	0.20670	0.349000	0.29174	2.543000	0.45752	1.041000	0.40125	0.563000	0.77884	TTG	.		0.592	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		A	170862286	C	A	170862286	3	1	62	1	0	0	0	0	1	0	0	0	12716	593	21	3	704	3	PSMB1	6	170862286	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	15884	170862286	252781	611	12979											
GPR146	115330	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	1097616	1097616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcgtgtggggtggcgcGctgctgaccagcttctcctc	15	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:1097616G>A	ENST00000397095.1	+	2	688	c.465G>A	c.(463-465)gcG>gcA	p.A155A	C7orf50_ENST00000397100.2_Intron|GPR146_ENST00000297468.3_Silent_p.A155A|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGTGGCGCGCTGCTGACCA	0.637																																					p.A155A		.											.	GPR146-91	0			c.G465A						.						87	77	80					7																	1097616		2203	4300	6503	SO:0001819	synonymous_variant	115330	exon1			TGGCGCGCTGCTG	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.465G>A	7.37:g.1097616G>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	119	57	NM_138445	0	0	2	2	0	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			.		0.637	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		A	1097616	G	A	1097616	2	1	62	1	0	0	0	0	0	0	0	1	6678	1074	38	1		1	GPR146	7	1097616	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		1097616	158041047	612	12980											
SDK1	221935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	4285348	4285348	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccggcggcctgcactactcaGacgaggacatctgcaacaag	11	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:4285348G>A	ENST00000404826.2	+	44	6431	c.6292G>A	c.(6292-6294)Gac>Aac	p.D2098N	SDK1_ENST00000389531.3_Missense_Mutation_p.D2078N|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2098					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)		GCACTACTCAGACGAGGACAT	0.612																																					p.D2098N		.											.	SDK1-138	0			c.G6292A						.						74	66	68					7																	4285348		2203	4300	6503	SO:0001583	missense	221935	exon44			TACTCAGACGAGG	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.6292G>A	7.37:g.4285348G>A	ENSP00000385899:p.Asp2098Asn	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	155	54	NM_152744	0	0	2	2	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528171	0.96446	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.69435	-0.39;-0.4	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	D	0.83353	0.5236	M	0.83012	2.62	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.994;0.998	D	0.85962	0.1471	10	0.87932	D	0	.	17.1277	0.86718	0.0:0.0:1.0:0.0	.	2078;158;585;2098	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	N	2098;346;2078	ENSP00000385899:D2098N;ENSP00000374182:D2078N	ENSP00000374182:D2078N	D	+	1	0	SDK1	4251874	1.000000	0.71417	0.909000	0.35828	0.994000	0.84299	9.197000	0.94985	2.462000	0.83206	0.655000	0.94253	GAC	.		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4285348	G	A	4285348	3	1	62	1	0	0	0	0	1	0	0	0	14013	942	33	3	6466	3	SDK1	7	4285348	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3187732	4285348	154853315	613	12981											
SLC29A4	222962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	5330852	5330852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggagagactgaccctgcaCaccaggatcaccgcaggtgc	13	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:5330852C>A	ENST00000396872.3	+	4	560	c.399C>A	c.(397-399)caC>caA	p.H133Q	SLC29A4_ENST00000406453.3_Missense_Mutation_p.H133Q|SLC29A4_ENST00000297195.4_Missense_Mutation_p.H133Q			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	133					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGACCCTGCACACCAGGATCA	0.627																																					p.H133Q		.											.	SLC29A4-515	0			c.C399A						.						70	59	63					7																	5330852		2203	4300	6503	SO:0001583	missense	222962	exon4			CCTGCACACCAGG	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.399C>A	7.37:g.5330852C>A	ENSP00000380081:p.His133Gln	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	96	44	NM_153247	0	0	0	2	2	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.756608	0.31137	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.80480	1.48;-1.38;1.48;-1.38;1.48	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	L	0.54323	1.7	0.50813	D	0.999896	D;B	0.89917	1.0;0.021	D;B	0.83275	0.996;0.014	T	0.82080	-0.0634	10	0.15952	T	0.53	-12.4037	14.4336	0.67266	0.0:1.0:0.0:0.0	.	133;133	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	Q	133	ENSP00000406803:H133Q;ENSP00000380081:H133Q;ENSP00000413271:H133Q;ENSP00000297195:H133Q;ENSP00000385845:H133Q	ENSP00000297195:H133Q	H	+	3	2	SLC29A4	5297378	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.380000	0.52448	1.926000	0.55796	0.561000	0.74099	CAC	.		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		A	5330852	C	A	5330852	3	1	62	1	0	0	0	0	1	0	0	0	14582	477	17	3	409	3	SLC29A4	7	5330852	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1045504	5330852	153807811	614	12982											
RSPH10B	222967	hgsc.bcm.edu;broad.mit.edu	37	chr7	6006678	6006679	+	Frame_Shift_Ins	INS	-	-	AG													ttggaaaagtctagattatcINSagagagagatgagggagagc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6006678_6006679insAG	ENST00000405415.1	-	2	455_456	c.69_70insCT	c.(67-72)tctgatfs	p.D24fs	RSPH10B_ENST00000441023.2_Frame_Shift_Ins_p.D24fs|RSPH10B_ENST00000404406.1_Frame_Shift_Ins_p.D24fs|RSPH10B_ENST00000337579.3_Frame_Shift_Ins_p.D24fs			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	24										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCTAGATTATCAGAGAGAGATG	0.465																																					p.D24fs		.											.	RSPH10B-23	0			c.70_71insCT						.																																			SO:0001589	frameshift_variant	222967	exon3			GATTATCAGAGAG		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.68_69dupCT	7.37:g.6006685_6006686dupAG	ENSP00000385443:p.Asp24fs	Somatic	251	0		WXS	Illumina GAIIx	Phase_I	292	59	NM_173565	0	0	0	0	0	A6NMW7|Q86ST9|Q8NE68	Frame_Shift_Ins	INS	ENST00000405415.1	37	CCDS34598.1																																																																																			.		0.465	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		AG	6006679	-	AG	6006678	7	5	62	1	0	1	1	0	0	0	0	0	13748	826	29	0	2618	0	RSPH10B	7	6006678	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	675826	6006678	153131985	615	12983											
RSPH10B	728194	hgsc.bcm.edu	37	chr7	6797368	6797369	+	Frame_Shift_Ins	INS	-	-	TC													agtctgcccgctctccctcaINStctctctctgataatctaga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6797368_6797369insTC	ENST00000403107.1	+	2	447_448	c.60_61insTC	c.(61-63)tctfs	p.S21fs	RSPH10B2_ENST00000297186.3_Frame_Shift_Ins_p.S21fs|RSPH10B2_ENST00000433859.2_Frame_Shift_Ins_p.S21fs|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000404077.1_Frame_Shift_Ins_p.S21fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	21										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GCTCTCCCTCATCTCTCTCTGA	0.45																																					p.S20fs		.											.	RSPH10B-23	0			c.60_61insTC						.																																			SO:0001589	frameshift_variant	222967	exon3			TCCCTCATCTCTC		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.67_68dupTC	7.37:g.6797375_6797376dupTC	ENSP00000384766:p.Ser21fs	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	158	32	NM_173565	0	0	0	0	0	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Frame_Shift_Ins	INS	ENST00000403107.1	37	CCDS43552.1																																																																																			.		0.45	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		TC	6797369	-	TC	6797368	7	5	62	1	0	1	1	0	0	0	0	0	13748	204	8	0	2751	0	RSPH10B	7	6797368	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	790690	6797368	152341295	616	12984											
C7orf28B	221960	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	6854405	6854405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatacctcaggttcgAtgtgccttgggaaaagggag	12	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6854405A>G	ENST00000316731.8	-	8	1342	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CCZ1B_ENST00000538180.1_Missense_Mutation_p.I114T	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	257						lysosome (GO:0005764)|membrane (GO:0016020)											CTCAGGTTCGATGTGCCTTGG	0.473																																					p.I257T		.											.	.	0			c.T770C						.						225	199	208					7																	6854405		2200	4300	6500	SO:0001583	missense	221960	exon8			GGTTCGATGTGCC	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.770T>C	7.37:g.6854405A>G	ENSP00000314544:p.Ile257Thr	Somatic	202	3		WXS	Illumina GAIIx	Phase_I	203	85	NM_198097	0	0	0	1	1	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	A	0.509	-0.867281	0.02590	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.52	2.52	0.30459	.	0.434143	0.25478	N	0.030395	T	0.17365	0.0417	.	.	.	0.26976	N	0.965472	.	.	.	.	.	.	T	0.14200	-1.0481	6	0.13108	T	0.6	-7.6454	4.3315	0.11066	0.8327:0.0:0.1673:0.0	.	.	.	.	T	257;114	.	ENSP00000314544:I257T	I	-	2	0	C7orf28B	6820930	1.000000	0.71417	0.969000	0.41365	0.108000	0.19459	4.730000	0.62015	1.152000	0.42452	0.156000	0.16432	ATC	.		0.473	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		G	6854405	A	G	6854405	3	3	62	1	0	0	0	0	1	0	0	0	2391	333	12	4	710	4	C7orf28B	7	6854405	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	57037	6854405	152284258	617	12985											
GLCCI1	113263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	8124630	8124630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggatgtgagcgagtgaaGgtctttgaggaaatggcgta	18	3	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:8124630G>A	ENST00000223145.5	+	7	1838	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	427						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCGAGTGAAGGTCTTTGAGG	0.453																																					p.K427K		.											.	GLCCI1-90	0			c.G1281A						.						143	143	143					7																	8124630		2203	4300	6503	SO:0001819	synonymous_variant	113263	exon7			AGTGAAGGTCTTT	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1281G>A	7.37:g.8124630G>A		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	132	49	NM_138426	0	0	3	4	1	A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	CCDS34601.1																																																																																			.		0.453	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		A	8124630	G	A	8124630	2	1	62	1	0	0	0	0	0	0	0	1	6457	991	35	3		3	GLCCI1	7	8124630	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1270225	8124630	151014033	618	12986											
ANKMY2	57037	ucsc.edu;bcgsc.ca	37	chr7	16649291	16649291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcttcgaaccagctgctgGaggagtgtagcttcacagta	12	9	1	0	rs149044205	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:16649291G>A	ENST00000306999.2	-	7	1089	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	282						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCAGCTGCTGGAGGAGTGTAG	0.403																																					p.L282L		.											.	ANKMY2-514	0			c.C846T						.						108	108	108					7																	16649291		2203	4300	6503	SO:0001819	synonymous_variant	57037	exon7			CTGCTGGAGGAGT	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.846C>T	7.37:g.16649291G>A		Somatic	90	1		WXS	Illumina GAIIx	Phase_I	87	30	NM_020319	0	0	8	27	19	A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	CCDS5361.1																																																																																			G|0.998;C|0.002		0.403	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		A	16649291	G	A	16649291	2	1	62	1	0	0	0	0	0	0	0	1	635	1161	41	3		3	ANKMY2	7	16649291	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8524661	16649291	142489372	619	12987											
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	18625005	18625005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggtggaccctgttgtcCgtgagaagcaattgcagcag	14	10	0	1	rs369708624		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:18625005C>T	ENST00000432645.2	+	2	124	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	HDAC9_ENST00000456174.2_Missense_Mutation_p.R11C|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42C|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42C|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42C|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70C|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11C|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84C|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					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)	CCCTGTTGTCCGTGAGAAGCA	0.493																																					p.R84C		.											.	HDAC9-227	0			c.C250T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3940		0,0,1970	96	96	96		250,124,124,31,31,124,124,124,124	5	1	7		96	1,8353		0,1,4176	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	180,180,180,180,180,180,180,180,180	0,1,6146	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	84/589,42/547,42/550,11/514,11/563,42/591,42/1012,42/1067,42/1070	18625005	1,12293	1970	4177	6147	SO:0001583	missense	9734	exon5			GTTGTCCGTGAGA	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.124C>T	7.37:g.18625005C>T	ENSP00000410337:p.Arg42Cys	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	159	74	NM_001204144	0	0	1	1	0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405590	0.83230	0.0	1.2E-4	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.68;0.72;0.74;0.73;0.19;0.73;0.7;0.15;0.2;0.17;0.71;0.74;0.76	5.93	5.0	0.66597	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.68247	0.2980	L	0.42245	1.32	0.58432	D	0.999997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.833;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.188;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.68372	-0.5426	10	0.59425	D	0.04	-10.7869	13.7519	0.62912	0.2689:0.7311:0.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	C	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84C;ENSP00000412497:R42C;ENSP00000392564:R42C;ENSP00000384382:R42C;ENSP00000384657:R42C;ENSP00000395655:R42C;ENSP00000384017:R70C;ENSP00000383912:R42C;ENSP00000410337:R42C;ENSP00000408617:R42C;ENSP00000404763:R11C;ENSP00000388568:R11C;ENSP00000430036:R11C	ENSP00000262069:R87C	R	+	1	0	HDAC9	18591530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.530000	0.53539	2.805000	0.96524	0.655000	0.94253	CGT	.		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18625005	C	T	18625005	3	4	62	1	0	0	0	0	1	0	0	0	7041	652	23	1	130	1	HDAC9	7	18625005	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1975714	18625005	140513658	620	12988											
TWISTNB	221830	hgsc.bcm.edu;bcgsc.ca	37	chr7	19739713	19739713	+	Frame_Shift_Del	DEL	C	C	-													accttgtgatatttagttttCcccgaatgcagaatactcca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:19739713delC	ENST00000222567.5	-	3	657	c.587delG	c.(586-588)ggafs	p.G196fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	196					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATTTAGTTTTCCCCGAATGCA	0.318																																					p.G196fs		.											.	TWISTNB-91	0			c.587delG						.						91	90	91					7																	19739713		2203	4300	6503	SO:0001589	frameshift_variant	221830	exon3			AGTTTTCCCCGAA	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.587delG	7.37:g.19739713delC	ENSP00000222567:p.Gly196fs	Somatic	82	1		WXS	Illumina GAIIx	Phase_I	68	26	NM_001002926	0	0	0	0	0	A0PJ45|B7Z724	Frame_Shift_Del	DEL	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.318	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			-	19739713	C	-	19739713	7	5	62	1	0	1	0	1	0	0	0	0	16833	855	30	0	437	0	TWISTNB	7	19739713	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	1114708	19739713	139398950	621	12989											
MACC1	346389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	20180768	20180768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatacagaaaatcataggcaGgtttccacatcatctataaa	5	8	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:20180768G>T	ENST00000400331.5	-	7	2668	c.2360C>A	c.(2359-2361)cCt>cAt	p.P787H	MACC1_ENST00000589011.1_Missense_Mutation_p.P787H|MACC1_ENST00000332878.4_Missense_Mutation_p.P787H|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	787					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATCATAGGCAGGTTTCCACAT	0.353																																					p.P787H		.											.	MACC1-93	0			c.C2360A						.						56	58	58					7																	20180768		2202	4298	6500	SO:0001583	missense	346389	exon7			TAGGCAGGTTTCC		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2360C>A	7.37:g.20180768G>T	ENSP00000383185:p.Pro787His	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	21	7	NM_182762	0	0	0	0	0	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763839	0.89932	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.45276	0.9;0.9	5.74	5.74	0.90152	.	0.049190	0.85682	D	0.000000	T	0.67287	0.2877	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	T	0.70659	-0.4811	10	0.87932	D	0	-18.4109	19.9351	0.97137	0.0:0.0:1.0:0.0	.	787	Q6ZN28	MACC1_HUMAN	H	787	ENSP00000383185:P787H;ENSP00000328410:P787H	ENSP00000328410:P787H	P	-	2	0	MACC1	20147293	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CCT	.		0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		T	20180768	G	T	20180768	3	4	62	1	0	0	0	0	1	0	0	0	9179	1000	35	3	202	3	MACC1	7	20180768	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	441055	20180768	138957895	622	12990											
SP4	6671	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	21516828	21516828	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacacaagtgcatttgCagcaaggccagcagacttct	8	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:21516828C>T	ENST00000222584.3	+	4	2028	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	604					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						AGTGCATTTGCAGCAAGGCCA	0.488																																					p.Q604X		.											.	SP4-95	0			c.C1810T						.						120	100	107					7																	21516828		2203	4300	6503	SO:0001587	stop_gained	6671	exon4			CATTTGCAGCAAG		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.1810C>T	7.37:g.21516828C>T	ENSP00000222584:p.Gln604*	Somatic	164	3		WXS	Illumina GAIIx	Phase_I	228	106	NM_003112	0	0	1	1	0	O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	39	7.425860	0.98275	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	604;47	.	ENSP00000222584:Q604X	Q	+	1	0	SP4	21483353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.604000	0.54081	2.885000	0.99019	0.655000	0.94253	CAG	.		0.488	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		T	21516828	C	T	21516828	4	4	62	1	0	0	0	0	0	1	0	0	15011	711	25	3	1824	3	SP4	7	21516828	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1336060	21516828	137621835	623	12991											
DNAH11	8701	broad.mit.edu	37	chr7	21932249	21932249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcagcccaggaatgcactCagtggtgatgaactggggca	14	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:21932249C>T	ENST00000409508.3	+	77	12745	c.12714C>T	c.(12712-12714)ctC>ctT	p.L4238L	DNAH11_ENST00000328843.6_Silent_p.L4245L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4245					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						GGAATGCACTCAGTGGTGATG	0.438									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						52	56	55					7																	21932249		1904	4125	6029	SO:0001819	synonymous_variant	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TGCACTCAGTGGT	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.12714C>T	7.37:g.21932249C>T		Somatic	50	0		WXS	Illumina GAIIx	Phase_I	47	3	.	0	0	112	113	1	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																				.		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21932249	C	T	21932249	2	4	62	1	0	0	0	0	0	0	0	1	4613	813	29	3		3	DNAH11	7	21932249	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	415421	21932249	137206414	624	12992											
DFNA5	1687	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	24738664	24738664	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaatgttctctgcctAaagcacagagtccattcagg	8	10	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:24738664A>C	ENST00000342947.3	-	10	1897	c.1472T>G	c.(1471-1473)tTa>tGa	p.L491*	DFNA5_ENST00000409775.3_Nonsense_Mutation_p.L491*|DFNA5_ENST00000545231.1_Nonsense_Mutation_p.L327*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.L327*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.L327*	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	491					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTCTGCCTAAAGCACAGAG	0.408																																					p.L491X	GBM(78;184 1250 20134 20900 23600)	.											.	DFNA5-91	0			c.T1472G						.						81	77	78					7																	24738664		2203	4300	6503	SO:0001587	stop_gained	1687	exon10			CTGCCTAAAGCAC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1472T>G	7.37:g.24738664A>C	ENSP00000339587:p.Leu491*	Somatic	168	1		WXS	Illumina GAIIx	Phase_I	226	90	NM_001127453	0	0	92	95	3	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Nonsense_Mutation	SNP	ENST00000342947.3	37	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	A	46	12.313034	0.99656	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.44587	D	0.997556	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8065	13.7343	0.62809	1.0:0.0:0.0:0.0	.	.	.	.	X	491;327;327;327;491	.	ENSP00000339587:L491X	L	-	2	0	DFNA5	24705189	0.965000	0.33210	0.004000	0.12327	0.931000	0.56810	5.293000	0.65680	2.068000	0.61886	0.528000	0.53228	TTA	.		0.408	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		C	24738664	A	C	24738664	4	2	62	1	0	0	0	0	0	1	0	0	4468	372	13	5	22	5	DFNA5	7	24738664	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2806415	24738664	134399999	625	12993											
ADCYAP1R1	117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	31117638	31117638	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggacaacatcacgtgtTggaagcccgcccatgtgggt	14	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:31117638T>G	ENST00000304166.4	+	4	479	c.190T>G	c.(190-192)Tgg>Ggg	p.W64G	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W64G|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W64G|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W64G	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	64					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CATCACGTGTTGGAAGCCCGC	0.577																																					p.W64G	Ovarian(44;225 1186 2158 11092)	.											.	ADCYAP1R1-91	0			c.T190G						.						183	134	151					7																	31117638		2203	4300	6503	SO:0001583	missense	117	exon4			ACGTGTTGGAAGC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.190T>G	7.37:g.31117638T>G	ENSP00000306620:p.Trp64Gly	Somatic	266	1		WXS	Illumina GAIIx	Phase_I	329	124	NM_001118	0	0	2	2	0	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300332	0.81136	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000431811;ENST00000396211;ENST00000409489	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.2	5.2	0.72013	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.90369	3.11	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99264	1.0891	10	0.87932	D	0	.	13.1002	0.59216	0.0:0.0:0.0:1.0	.	64;64;64;64;64	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	G	64	ENSP00000306620:W64G;ENSP00000387335:W64G;ENSP00000400893:W64G;ENSP00000379514:W64G;ENSP00000386395:W64G	ENSP00000306620:W64G	W	+	1	0	ADCYAP1R1	31084163	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	6.807000	0.75201	1.973000	0.57446	0.524000	0.50904	TGG	.		0.577	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		G	31117638	T	G	31117638	3	3	62	1	0	0	0	0	1	0	0	0	303	1812	63	5	200	5	ADCYAP1R1	7	31117638	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	6378974	31117638	128021025	626	12994											
ANLN	54443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	36450230	36450230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagaacccccattattactCcaaatacaaaggccatccaa	3	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:36450230C>T	ENST00000265748.2	+	6	1425	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	ANLN_ENST00000396068.2_Missense_Mutation_p.P402S|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	402	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CATTATTACTCCAAATACAAA	0.438																																					p.P402S		.											.	ANLN-517	0			c.C1204T						.						165	149	154					7																	36450230		2203	4300	6503	SO:0001583	missense	54443	exon6			ATTACTCCAAATA	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1204C>T	7.37:g.36450230C>T	ENSP00000265748:p.Pro402Ser	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	154	57	NM_018685	0	0	16	35	19	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.824319|4.824319	0.90955|0.90955	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000428612	T;T|.	0.18810|.	2.36;2.19|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77512|0.77512	0.4141|0.4141	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.948;0.995;1.0;1.0|.	T|T	0.76119|0.76119	-0.3076|-0.3076	10|5	0.54805|.	T|.	0.06|.	-16.1905|-16.1905	19.6758|19.6758	0.95932|0.95932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	279;402;402;402|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.;.;.;ANLN_HUMAN|.	S|F	402|21	ENSP00000265748:P402S;ENSP00000379380:P402S|.	ENSP00000265748:P402S|.	P|S	+|+	1|2	0|0	ANLN|ANLN	36416755|36416755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	6.010000|6.010000	0.70753|0.70753	2.657000|2.657000	0.90304|0.90304	0.591000|0.591000	0.81541|0.81541	CCA|TCC	.		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		T	36450230	C	T	36450230	3	4	62	1	0	0	0	0	1	0	0	0	694	855	30	3	1226	3	ANLN	7	36450230	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5332592	36450230	122688433	627	12995											
POU6F2	11281	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	39243895	39243895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaccaacaccaggccagtcaGacccaccccccatttccagt	6	19	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:39243895G>A	ENST00000403058.1	+	4	406	c.252G>A	c.(250-252)caG>caA	p.Q84Q	POU6F2_ENST00000518318.2_Silent_p.Q84Q|POU6F2_ENST00000559001.1_Silent_p.Q76Q|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	84					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCCAGTCAGACCCACCCCC	0.468																																					p.Q84Q		.											.	POU6F2-90	0			c.G252A						.						92	82	86					7																	39243895		2203	4300	6503	SO:0001819	synonymous_variant	11281	exon4			CAGTCAGACCCAC	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.252G>A	7.37:g.39243895G>A		Somatic	91	1		WXS	Illumina GAIIx	Phase_I	109	38	NM_007252	0	0	0	0	0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	CCDS34620.2																																																																																			.		0.468	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		A	39243895	G	A	39243895	2	1	62	1	0	0	0	0	0	0	0	1	12324	933	33	3		3	POU6F2	7	39243895	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2793665	39243895	119894768	628	12996											
TBRG4	9238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45144212	45144212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggtggtaggagatggCccgcagcaagggcacggacc	16	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45144212C>T	ENST00000258770.3	-	4	953	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.A278T|TBRG4_ENST00000361278.3_Intron|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|SNORA5A_ENST00000384111.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	278					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TAGGAGATGGCCCGCAGCAAG	0.607																																					p.A289T		.											.	TBRG4-90	0			c.G865A						.						84	72	76					7																	45144212		2203	4300	6503	SO:0001583	missense	9238	exon4			AGATGGCCCGCAG	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.832G>A	7.37:g.45144212C>T	ENSP00000258770:p.Ala278Thr	Somatic	243	0		WXS	Illumina GAIIx	Phase_I	331	151	NM_001261834	0	2	45	91	44	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794212	0.96952	.	.	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.67171	2.82;2.82;-0.25;-0.15	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.63113	0.814;0.911	T	0.74515	-0.3640	10	0.23891	T	0.37	.	16.5312	0.84361	0.0:1.0:0.0:0.0	.	289;278	B4DU42;Q969Z0	.;TBRG4_HUMAN	T	278;278;243;224	ENSP00000258770:A278T;ENSP00000420597:A278T;ENSP00000418631:A243T;ENSP00000417743:A224T	ENSP00000258770:A278T	A	-	1	0	TBRG4	45110737	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.599000	0.67592	2.664000	0.90586	0.655000	0.94253	GCC	.		0.607	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		T	45144212	C	T	45144212	3	4	62	1	0	0	0	0	1	0	0	0	15696	739	26	3	1095	3	TBRG4	7	45144212	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5900317	45144212	113994451	629	12997											
RAMP3	10268	hgsc.bcm.edu;bcgsc.ca	37	chr7	45222787	45222787	+	Frame_Shift_Del	DEL	A	A	-													gtttcaccaactgcaccgagAtggaggccaatgtcgtgggc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45222787delA	ENST00000242249.4	+	3	261	c.223delA	c.(223-225)atgfs	p.M75fs	RAMP3_ENST00000496212.1_Frame_Shift_Del_p.M75fs|RAMP3_ENST00000481345.1_Frame_Shift_Del_p.M75fs	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	75					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)	CTGCACCGAGATGGAGGCCAA	0.612																																					p.M75fs		.											.	RAMP3-90	0			c.223delA						.						76	73	74					7																	45222787		2203	4300	6503	SO:0001589	frameshift_variant	10268	exon3			ACCGAGATGGAGG	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.223delA	7.37:g.45222787delA	ENSP00000242249:p.Met75fs	Somatic	43	0		WXS	Illumina GAIIx	Phase_I	57	22	NM_005856	0	0	0	0	0	Q7Z2Y1	Frame_Shift_Del	DEL	ENST00000242249.4	37	CCDS5503.1																																																																																			.		0.612	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		-	45222787	A	-	45222787	7	5	62	1	0	1	0	1	0	0	0	0	13068	333	12	0	233	0	RAMP3	7	45222787	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	78575	45222787	113915876	630	12998											
IGFBP3	3486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	45954540	45954540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctgcctttggaagggCgacactgtgggagagaaaca	14	9	0	1	rs17847676		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45954540C>T	ENST00000275521.6	-	4	888	c.755G>A	c.(754-756)cGc>cAc	p.R252H	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R155H|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R258H|IGFBP3_ENST00000465642.1_5'Flank	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	252	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TTTGGAAGGGCGACACTGTGG	0.592													C|||	1	0.000199681	0	0	5008	,	,		19541	0.001		0	False		,,,				2504	0				p.R258H		.											.	IGFBP3-1009	0			c.G773A						.						60	56	58					7																	45954540		2203	4300	6503	SO:0001583	missense	3486	exon4			GAAGGGCGACACT		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.755G>A	7.37:g.45954540C>T	ENSP00000275521:p.Arg252His	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	124	45	NM_001013398	0	0	0	0	0	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.547083|4.547083	0.86022|0.86022	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047	.|T;T;T	.|0.61510	.|0.1;0.1;0.1	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Thyroglobulin type-1 (6);	.|0.055901	.|0.64402	.|D	.|0.000001	T|T	0.59514|0.59514	0.2199|0.2199	N|N	0.12443|0.12443	0.215|0.215	0.43372|0.43372	D|D	0.995469|0.995469	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.63829|0.63829	-0.6548|-0.6548	5|10	.|0.46703	.|T	.|0.11	-44.1319|-44.1319	14.4435|14.4435	0.67333|0.67333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs17847676|rs17847676	.|155;252;237	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	T|H	104|229;252;155;238;150;258;224	.|ENSP00000275521:R252H;ENSP00000370476:R155H;ENSP00000370473:R258H	.|ENSP00000275521:R252H	A|R	-|-	1|2	0|0	IGFBP3|IGFBP3	45921065|45921065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	5.336000|5.336000	0.65935|0.65935	2.473000|2.473000	0.83533|0.83533	0.655000|0.655000	0.94253|0.94253	GCC|CGC	.		0.592	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		T	45954540	C	T	45954540	3	4	62	1	0	0	0	0	1	0	0	0	7607	768	27	1	124	1	IGFBP3	7	45954540	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	731753	45954540	113184123	631	12999											
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	47983029	47983029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagggctacagctgcAcagatgaagaccccagctct	11	13	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:47983029A>G	ENST00000289672.2	-	2	174	c.124T>C	c.(124-126)Tgc>Cgc	p.C42R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	42					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						CTACAGCTGCACAGATGAAGA	0.522																																					p.C42R		.											.	PKD1L1-145	0			c.T124C						.						111	103	106					7																	47983029		2203	4300	6503	SO:0001583	missense	168507	exon2			AGCTGCACAGATG	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.124T>C	7.37:g.47983029A>G	ENSP00000289672:p.Cys42Arg	Somatic	271	0		WXS	Illumina GAIIx	Phase_I	343	138	NM_138295	0	0	1	1	0	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	6.820	0.520392	0.13005	.	.	ENSG00000158683	ENST00000289672	T	0.23950	1.88	1.97	0.77	0.18497	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.40302	0.712	B	0.35353	0.201	T	0.16012	-1.0417	9	0.87932	D	0	.	3.7605	0.08602	0.7985:0.0:0.2015:0.0	.	42	Q8TDX9	PK1L1_HUMAN	R	42	ENSP00000289672:C42R	ENSP00000289672:C42R	C	-	1	0	PKD1L1	47949554	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.577000	0.05847	0.210000	0.20664	0.456000	0.33151	TGC	.		0.522	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47983029	A	G	47983029	3	3	62	1	0	0	0	0	1	0	0	0	12003	159	6	4	8649	4	PKD1L1	7	47983029	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2028489	47983029	111155634	632	13000											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	48311465	48311465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaatgaactttcttttAtcatttgtggaattttttga	6	4	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:48311465A>G	ENST00000435803.1	+	17	2226	c.2202A>G	c.(2200-2202)ttA>ttG	p.L734L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	734					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						ACTTTCTTTTATCATTTGTGG	0.353																																					p.L734L		.											.	ABCA13-521	0			c.A2202G						.						51	48	49					7																	48311465		1808	4069	5877	SO:0001819	synonymous_variant	154664	exon17			TCTTTTATCATTT	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.2202A>G	7.37:g.48311465A>G		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	69	34	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48311465	A	G	48311465	2	3	62	1	0	0	0	0	0	0	0	1	31	446	16	4		4	ABCA13	7	48311465	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	328436	48311465	110827198	633	13001											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	51096471	51096471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtttttccacagaGttgcacctccagaactctct	7	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:51096471G>A	ENST00000265136.7	-	10	2487	c.2322C>T	c.(2320-2322)aaC>aaT	p.N774N	COBL_ENST00000395542.2_Silent_p.N856N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	774					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTTCCACAGAGTTGCACCTCC	0.592																																					p.N774N	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.C2322T						.						43	45	44					7																	51096471		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon10			CACAGAGTTGCAC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2322C>T	7.37:g.51096471G>A		Somatic	59	0		WXS	Illumina GAIIx	Phase_I	88	36	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	4.822	0.152845	0.09185	.	.	ENSG00000106078	ENST00000457306	.	.	.	5.83	2.99	0.34606	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.20703	N	0.999866	.	.	.	.	.	.	T	0.36648	-0.9739	5	0.87932	D	0	.	5.1823	0.15167	0.2906:0.1485:0.5608:0.0	.	.	.	.	I	220	.	ENSP00000397300:T220I	T	-	2	0	COBL	51063965	0.037000	0.19845	0.056000	0.19401	0.077000	0.17291	0.191000	0.17076	0.785000	0.33685	0.655000	0.94253	ACT	.		0.592	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51096471	G	A	51096471	2	1	62	1	0	0	0	0	0	0	0	1	3660	1020	36	3		3	COBL	7	51096471	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2785006	51096471	108042192	634	13002											
AUTS2	26053	broad.mit.edu	37	chr7	70255070	70255070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgccaggcccaacagCacctcgagccgggaggccga	15	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:70255070C>A	ENST00000342771.4	+	19	3189	c.2868C>A	c.(2866-2868)agC>agA	p.S956R	AUTS2_ENST00000406775.2_Missense_Mutation_p.S932R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	956										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCCCAACAGCACCTCGAGCC	0.706																																					p.S956R		.											.	AUTS2-92	0			c.C2868A						.						11	12	11					7																	70255070		2172	4263	6435	SO:0001583	missense	26053	exon19			CAACAGCACCTCG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2868C>A	7.37:g.70255070C>A	ENSP00000344087:p.Ser956Arg	Somatic	78	4		WXS	Illumina GAIIx	Phase_I	199	12	NM_015570	0	0	3	3	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996475	0.54147	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.33216	1.42;1.43	4.28	2.47	0.30058	.	0.043042	0.85682	D	0.000000	T	0.38772	0.1053	L	0.42245	1.32	0.80722	D	1	D;D;D	0.71674	0.958;0.998;0.998	P;P;P	0.62649	0.663;0.905;0.905	T	0.05338	-1.0891	9	.	.	.	-17.3685	8.3689	0.32404	0.0:0.6769:0.0:0.3231	.	408;932;956	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	R	932;956	ENSP00000385263:S932R;ENSP00000344087:S956R	.	S	+	3	2	AUTS2	69893006	0.898000	0.30612	0.999000	0.59377	0.999000	0.98932	-0.070000	0.11523	0.454000	0.26884	0.655000	0.94253	AGC	.		0.706	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70255070	C	A	70255070	3	1	62	1	0	0	0	0	1	0	0	0	1226	709	25	3	3087	3	AUTS2	7	70255070	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	19158599	70255070	88883593	635	13003											
AUTS2	26053	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	70255628	70255628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggaccctcggcgggaGcacgagcggggaggccacct	17	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:70255628G>A	ENST00000342771.4	+	19	3747	c.3426G>A	c.(3424-3426)gaG>gaA	p.E1142E	AUTS2_ENST00000406775.2_Silent_p.E1118E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1142	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCGGCGGGAGCACGAGCGGG	0.682																																					p.E1142E		.											.	AUTS2-92	0			c.G3426A						.						18	19	19					7																	70255628		2198	4288	6486	SO:0001819	synonymous_variant	26053	exon19			GCGGGAGCACGAG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3426G>A	7.37:g.70255628G>A		Somatic	53	0		WXS	Illumina GAIIx	Phase_I	113	49	NM_015570	0	0	11	18	7	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																			.		0.682	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70255628	G	A	70255628	2	1	62	1	0	0	0	0	0	0	0	1	1226	962	34	3		3	AUTS2	7	70255628	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	558	70255628	88883035	636	13004											
TYW1B	441250	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	72159704	72159704	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcttttaaactgtcAaggaattgctgccagaaatc	9	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72159704A>C	ENST00000435769.2	-	0	1602				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_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)										TTAAACTGTCAAGGAATTGCT	0.408																																					.		.											.	.	0			.						.						97	82	86					7																	72159704		692	1591	2283			441250	.			ACTGTCAAGGAAT	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.72159704A>C		Somatic	101	1		WXS	Illumina GAIIx	Phase_I	122	55	.	0	0	0	0	0	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																				.		0.408	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		C	72159704	A	C	72159704	1	2	62	0	1	0	0	0	0	0	0	0	16868	117	5	5		5	TYW1B	7	72159704	RNA	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1904076	72159704	86978959	637	13005											
FZD9	8326	ucsc.edu;bcgsc.ca	37	chr7	72850023	72850023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcccccgggagctacggAcgtggcacgcactgccacta	13	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72850023A>G	ENST00000344575.3	+	1	1915	c.1686A>G	c.(1684-1686)ggA>ggG	p.G562G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	562					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGCTACGGACGTGGCACGC	0.642																																					p.G562G	Pancreas(144;909 1878 36867 38226 39554)	.											.	FZD9-1082	0			c.A1686G						.						48	59	55					7																	72850023		2203	4300	6503	SO:0001819	synonymous_variant	8326	exon1			CTACGGACGTGGC	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1686A>G	7.37:g.72850023A>G		Somatic	162	2		WXS	Illumina GAIIx	Phase_I	272	95	NM_003508	0	0	3	4	1		Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																			.		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			G	72850023	A	G	72850023	2	3	62	1	0	0	0	0	0	0	0	1	6161	262	10	4		4	FZD9	7	72850023	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	690319	72850023	86288640	638	13006											
TBL2	26608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	72985169	72985169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgttgggggagagggCcaggcggcacggcgcggcac	22	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72985169C>T	ENST00000305632.5	-	7	1253	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A302T	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	338							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGAGAGGGCCAGGCGGCAC	0.612																																					p.A338T		.											.	TBL2-90	0			c.G1012A						.						60	63	62					7																	72985169		2203	4300	6503	SO:0001583	missense	26608	exon7			AGAGGGCCAGGCG	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1012G>A	7.37:g.72985169C>T	ENSP00000307260:p.Ala338Thr	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	58	23	NM_012453	0	0	23	40	17	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166650	0.78339	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.33865	1.39;1.39	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.957	T	0.63924	-0.6527	10	0.46703	T	0.11	-13.5811	17.9231	0.88973	0.0:1.0:0.0:0.0	.	302;338	E9PF19;Q9Y4P3	.;TBL2_HUMAN	T	338;338;302	ENSP00000307260:A338T;ENSP00000413979:A302T	ENSP00000307260:A338T	A	-	1	0	TBL2	72623105	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	4.554000	0.60760	2.833000	0.97629	0.655000	0.94253	GCC	.		0.612	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		T	72985169	C	T	72985169	3	4	62	1	0	0	0	0	1	0	0	0	15689	739	26	3	335	3	TBL2	7	72985169	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	135146	72985169	86153494	639	13007											
WBSCR28	135886	ucsc.edu;bcgsc.ca	37	chr7	73279962	73279962	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagctgagacgtctgtAttggtgggtggagactatga	16	5	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:73279962A>T	ENST00000320531.2	+	3	593	c.557A>T	c.(556-558)tAt>tTt	p.Y186F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	186						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGACGTCTGTATTGGTGGGTG	0.587																																					p.Y186F		.											.	WBSCR28-90	0			c.A557T						.						166	172	170					7																	73279962		2202	4295	6497	SO:0001583	missense	135886	exon3			GTCTGTATTGGTG	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.557A>T	7.37:g.73279962A>T	ENSP00000316775:p.Tyr186Phe	Somatic	272	2		WXS	Illumina GAIIx	Phase_I	301	124	NM_182504	0	0	0	0	0	Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	A	7.861	0.726075	0.15439	.	.	ENSG00000175877	ENST00000320531	T	0.27720	1.65	4.15	0.332	0.15938	.	0.231850	0.22358	N	0.061118	T	0.27967	0.0689	L	0.36672	1.1	0.21105	N	0.99978	D	0.54207	0.965	P	0.52793	0.709	T	0.10132	-1.0643	10	0.37606	T	0.19	-11.0658	5.0108	0.14312	0.4717:0.4214:0.107:0.0	.	186	Q6UE05	WBS28_HUMAN	F	186	ENSP00000316775:Y186F	ENSP00000316775:Y186F	Y	+	2	0	WBSCR28	72917898	0.156000	0.22821	0.431000	0.26735	0.155000	0.21991	0.182000	0.16900	-0.022000	0.13986	-0.328000	0.08392	TAT	.		0.587	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		T	73279962	A	T	73279962	3	4	62	1	0	0	0	0	1	0	0	0	17316	449	16	5	567	5	WBSCR28	7	73279962	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	294793	73279962	85858701	640	13008											
GTF2IRD2B	389524	bcgsc.ca	37	chr7	74538966	74538966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggacaacagtgatggtgCctgttccctatgagaagatg	13	7	0	3	rs200012926	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:74538966C>T	ENST00000312575.7	+	5	563	c.388C>T	c.(388-390)Cct>Tct	p.P130S	GTF2IRD2B_ENST00000356115.5_Missense_Mutation_p.P130S|GTF2IRD2B_ENST00000430511.2_Missense_Mutation_p.P130S	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						AGTGATGGTGCCTGTTCCCTA	0.478																																					p.P130S		.											.	GTF2IRD2B-45	0			c.C388T						.																																			SO:0001583	missense	389524	exon5			ATGGTGCCTGTTC	AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.388C>T	7.37:g.74538966C>T	ENSP00000308080:p.Pro130Ser	Somatic	901	2		WXS	Illumina GAIIx	Phase_I	1168	33	NM_001003795	0	0	12	12	0	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	37	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200097	0.38905	.	.	ENSG00000174428	ENST00000356115;ENST00000430511;ENST00000312575	T;T;T	0.43294	0.95;0.95;0.95	4.01	3.13	0.36017	.	.	.	.	.	T	0.59348	0.2187	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61783	-0.6992	9	0.87932	D	0	-24.7571	10.5736	0.45214	0.0:0.9024:0.0:0.0976	.	130;130	Q86UP8-2;Q6EKJ0	.;GTD2B_HUMAN	S	130	ENSP00000348427:P130S;ENSP00000413588:P130S;ENSP00000308080:P130S	ENSP00000308080:P130S	P	+	1	0	GTF2IRD2B	74176902	0.993000	0.37304	0.399000	0.26333	0.094000	0.18550	3.376000	0.52417	1.012000	0.39366	0.585000	0.79938	CCT	C|0.500;T|0.500		0.478	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		T	74538966	C	T	74538966	3	4	62	1	0	0	0	0	1	0	0	0	6897	739	26	3	402	3	GTF2IRD2B	7	74538966	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1259004	74538966	84599697	641	13009											
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	86537770	86537770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttcacttacttataaaAgaaatgcacatctggtattt	4	8	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:86537770A>G	ENST00000450689.2	-	17	2634	c.2449T>C	c.(2449-2451)Ttt>Ctt	p.F817L	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F746L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F650L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F577L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	817						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)					TACTTATAAAAGAAATGCACA	0.299																																					p.F817L		.											.	KIAA1324L-97	0			c.T2449C						.						108	113	111					7																	86537770		2202	4295	6497	SO:0001583	missense	222223	exon17			TATAAAAGAAATG	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.2449T>C	7.37:g.86537770A>G	ENSP00000413445:p.Phe817Leu	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	46	17	NM_001142749	0	0	0	0	0	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.33|17.33	3.361628|3.361628	0.61403|0.61403	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.03689|.	3.84;3.84;3.84;3.84|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Mannose-6-phosphate receptor, binding (1);|.	0.049272|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B|.	0.50943|.	0.94;0.4;0.4|.	P;B;B|.	0.53760|.	0.734;0.225;0.225|.	T|T	0.76788|0.76788	-0.2830|-0.2830	10|5	0.33940|.	T|.	0.23|.	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	817;577;650|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	L|P	817;577;746;650|777	ENSP00000413445:F817L;ENSP00000297222:F577L;ENSP00000397377:F746L;ENSP00000402390:F650L|.	ENSP00000297222:F577L|.	F|L	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86375706|86375706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.541000|5.541000	0.67212|0.67212	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	TTT|CTT	.		0.299	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		G	86537770	A	G	86537770	3	3	62	1	0	0	0	0	1	0	0	0	8251	72	3	4	664	4	KIAA1324L	7	86537770	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	11998804	86537770	72600893	642	13010											
CROT	54677	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	86998758	86998758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcttttgtctttgatgTaatacatgaaggatgtttgg	11	5	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:86998758T>C	ENST00000331536.3	+	7	799	c.614T>C	c.(613-615)gTa>gCa	p.V205A	CROT_ENST00000442291.1_Missense_Mutation_p.V205A|CROT_ENST00000419147.2_Missense_Mutation_p.V233A	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	205					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCTTTGATGTAATACATGAA	0.423																																					p.V233A		.											.	CROT-280	0			c.T698C						.						214	199	204					7																	86998758		2203	4300	6503	SO:0001583	missense	54677	exon8			TTGATGTAATACA		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.614T>C	7.37:g.86998758T>C	ENSP00000331981:p.Val205Ala	Somatic	116	1		WXS	Illumina GAIIx	Phase_I	143	57	NM_001143935	0	0	1	11	10	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	1.939	-0.443966	0.04604	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.91237	-2.81;-2.81;-2.81	5.1	0.0717	0.14383	.	0.596956	0.18290	N	0.145728	D	0.84302	0.5442	L	0.45581	1.43	0.19775	N	0.999953	B;B	0.11235	0.001;0.004	B;B	0.14023	0.007;0.01	T	0.72947	-0.4137	10	0.48119	T	0.1	-2.177	6.6979	0.23209	0.0:0.3712:0.1285:0.5004	.	233;205	E7EQF2;Q9UKG9	.;OCTC_HUMAN	A	233;205;205	ENSP00000413575:V233A;ENSP00000331981:V205A;ENSP00000411983:V205A	ENSP00000331981:V205A	V	+	2	0	CROT	86836694	0.018000	0.18449	0.016000	0.15963	0.975000	0.68041	0.185000	0.16958	-0.060000	0.13132	0.477000	0.44152	GTA	.		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		C	86998758	T	C	86998758	3	2	62	1	0	0	0	0	1	0	0	0	3901	1638	57	4	720	4	CROT	7	86998758	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	460988	86998758	72139905	643	13011											
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	88963113	88963113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtttgcaaataaagatAcacaccttaccaaggaaaaa	7	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:88963113A>G	ENST00000333190.4	+	4	1426	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	273							metal ion binding (GO:0046872)	p.T273A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATAAAGATACACACCTTAC	0.358										HNSCC(36;0.09)																											p.T273A		.											.	ZNF804B-101	1	Substitution - Missense(1)	large_intestine(1)	c.A817G						.						74	69	70					7																	88963113		2202	4300	6502	SO:0001583	missense	219578	exon4			AAAGATACACACC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.817A>G	7.37:g.88963113A>G	ENSP00000329638:p.Thr273Ala	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	131	66	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023091	0.00414	.	.	ENSG00000182348	ENST00000333190	T	0.04454	3.62	5.04	2.69	0.31865	.	1.119620	0.06624	N	0.758025	T	0.02649	0.0080	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45977	-0.9224	10	0.08837	T	0.75	0.4056	7.5759	0.27935	0.6445:0.0:0.3555:0.0	.	273	A4D1E1	Z804B_HUMAN	A	273	ENSP00000329638:T273A	ENSP00000329638:T273A	T	+	1	0	ZNF804B	88801049	0.000000	0.05858	0.001000	0.08648	0.483000	0.33249	-0.075000	0.11431	0.416000	0.25844	0.533000	0.62120	ACA	.		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88963113	A	G	88963113	3	3	62	1	0	0	0	0	1	0	0	0	18219	391	14	4	831	4	ZNF804B	7	88963113	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1964355	88963113	70175550	644	13012											
PEX1	5189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	92134188	92134188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagaaagccacctctagGgttttttgtatgttttcaag	9	7	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:92134188G>A	ENST00000248633.4	-	12	2024	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	PEX1_ENST00000541751.1_Silent_p.T60T|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000438045.1_Silent_p.T321T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	643			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		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)			CCACCTCTAGGGTTTTTTGTA	0.443																																					p.T643T		.											.	PEX1-91	0			c.C1929T						.						147	152	150					7																	92134188		2203	4300	6503	SO:0001819	synonymous_variant	5189	exon12			CTCTAGGGTTTTT	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.1929C>T	7.37:g.92134188G>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	64	22	NM_000466	0	0	7	11	4	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																			.		0.443	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		A	92134188	G	A	92134188	2	1	62	1	0	0	0	0	0	0	0	1	11774	1219	43	3		3	PEX1	7	92134188	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3171075	92134188	67004475	645	13013											
ZNF394	84124	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	99091800	99091800	+	Frame_Shift_Del	DEL	A	A	-													tggagctgcctctgggtctcAaaaaggctggaatgatggaa							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99091800delA	ENST00000337673.6	-	3	1241	c.1038delT	c.(1036-1038)tttfs	p.F346fs	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	346					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTGGGTCTCAAAAAGGCTGG	0.473																																					p.F346fs	Ovarian(24;589 697 9939 12704 40742)	.											.	ZNF394-90	0			c.1038delT						.						113	106	108					7																	99091800		2203	4300	6503	SO:0001589	frameshift_variant	84124	exon3			GGTCTCAAAAAGG	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1038delT	7.37:g.99091800delA	ENSP00000337363:p.Phe346fs	Somatic	192	0		WXS	Illumina GAIIx	Phase_I	242	107	NM_032164	0	0	0	0	0	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Frame_Shift_Del	DEL	ENST00000337673.6	37	CCDS5666.1																																																																																			.		0.473	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		-	99091800	A	-	99091800	7	5	62	1	0	1	0	1	0	0	0	0	17928	127	5	0	651	0	ZNF394	7	99091800	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	6957612	99091800	60046863	646	13014											
FAM200A	221786	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	99144838	99144839	+	Frame_Shift_Del	DEL	AT	AT	-													gttgcaataatgttggaaacAtatagtagctagggcggtta							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99144838_99144839delAT	ENST00000449309.1	-	2	1571_1572	c.1192_1193delAT	c.(1192-1194)atgfs	p.M398fs		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	398						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tgttggaaacatatagtagcta	0.312																																					p.398_398del		.											.	FAM200A-90	0			c.1192_1193del						.																																			SO:0001589	frameshift_variant	221786	exon2			GGAAACATATAGT		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1192_1193delAT	7.37:g.99144840_99144841delAT	ENSP00000411372:p.Met398fs	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	108	39	NM_145111	0	0	0	0	0	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Frame_Shift_Del	DEL	ENST00000449309.1	37	CCDS5668.1																																																																																			.		0.312	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		-	99144839	AT	-	99144838	7	5	62	1	0	1	0	1	0	0	0	0	5555	217	8	0	532	0	FAM200A	7	99144838	Frame_Shift_Del	DEL	AT	TCGA-PK-A5HB-01A-11D-A29I-10	53038	99144838	59993825	647	13015											
TRIM4	89122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	99507254	99507254	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttcttcatcttggccacGagattacgctgagacttaag	8	10	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99507254G>A	ENST00000355947.2	-	3	630	c.501C>T	c.(499-501)ctC>ctT	p.L167L	TRIM4_ENST00000354241.5_Silent_p.L141L|TRIM4_ENST00000349062.2_Silent_p.L141L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	167					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TCTTGGCCACGAGATTACGCT	0.418																																					p.L167L		.											.	TRIM4-227	0			c.C501T						.						199	160	173					7																	99507254		2203	4300	6503	SO:0001819	synonymous_variant	89122	exon3			GGCCACGAGATTA	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.501C>T	7.37:g.99507254G>A		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	182	76	NM_033017	0	0	22	50	28	A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	1.980	-0.434470	0.04669	.	.	ENSG00000146833	ENST00000447480	.	.	.	2.55	-3.23	0.05109	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	0.056	0.00013	0.319:0.2289:0.1826:0.2695	.	.	.	.	C	43	.	.	R	-	1	0	TRIM4	99345190	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.354000	0.02614	-0.952000	0.03649	-0.252000	0.11476	CGT	.		0.418	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99507254	G	A	99507254	2	1	62	1	0	0	0	0	0	0	0	1	16562	1045	37	1		1	TRIM4	7	99507254	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	362416	99507254	59631409	648	13016											
COPS6	10980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	99688715	99688715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccacagaggaagcggaaCgcattggtgtagaccacgta	14	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99688715C>T	ENST00000303904.3	+	7	626	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.R196C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	197					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAAGCGGAACGCATTGGTGT	0.532																																					p.R197C		.											.	COPS6-658	0			c.C589T						.						141	117	125					7																	99688715		2203	4300	6503	SO:0001583	missense	10980	exon7			GCGGAACGCATTG	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.589C>T	7.37:g.99688715C>T	ENSP00000304102:p.Arg197Cys	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	146	14	NM_006833	0	0	231	248	17	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587654	0.28268	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.52983	0.64;0.64	4.79	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75139	-0.3423	10	0.72032	D	0.01	-19.8437	7.9798	0.30177	0.1831:0.64:0.1769:0.0	.	197	Q7L5N1	CSN6_HUMAN	C	197;196	ENSP00000304102:R197C;ENSP00000400617:R196C	ENSP00000304102:R197C	R	+	1	0	COPS6	99526651	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	1.611000	0.36879	1.222000	0.43521	-0.175000	0.13238	CGC	.		0.532	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		T	99688715	C	T	99688715	3	4	62	1	0	0	0	0	1	0	0	0	3744	536	19	1	615	1	COPS6	7	99688715	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	181461	99688715	59449948	649	13017											
EPHB4	2050	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100417182	100417182	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcccccaagtctcaccctCtcggtcagtggtgacattga	9	15	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:100417182C>A	ENST00000358173.3	-	6	1762	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.E432*|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTCTCACCCTCTCGGTCAGTG	0.607																																					p.E432X	GBM(200;2113 3072 25865 52728)	.											.	EPHB4-1446	0			c.G1294T						.						73	75	74					7																	100417182		2203	4300	6503	SO:0001587	stop_gained	2050	exon6			CACCCTCTCGGTC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1294G>T	7.37:g.100417182C>A	ENSP00000350896:p.Glu432*	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	146	55	NM_004444	0	0	0	0	0	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	41	8.832846	0.98970	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	5.46	4.56	0.56223	.	0.122077	0.36234	N	0.002702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7816	0.63085	0.0:0.8447:0.1553:0.0	.	.	.	.	X	432	.	ENSP00000350896:E432X	E	-	1	0	EPHB4	100255118	0.831000	0.29352	0.913000	0.36048	0.526000	0.34562	4.825000	0.62708	1.262000	0.44165	0.655000	0.94253	GAG	.		0.607	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		A	100417182	C	A	100417182	4	1	62	1	0	0	0	0	0	1	0	0	5193	922	32	3	1717	3	EPHB4	7	100417182	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	728467	100417182	58721481	650	13018											
ACHE	43	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	100490017	100490017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagattttctcctctgcCgtgtagtttcgagaggggtc	13	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:100490017C>A	ENST00000412389.1	-	2	1646	c.1491G>T	c.(1489-1491)acG>acT	p.T497T	ACHE_ENST00000411582.1_Silent_p.T497T|ACHE_ENST00000302913.4_Silent_p.T497T|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000419336.2_Silent_p.T409T|ACHE_ENST00000241069.5_Silent_p.T497T|ACHE_ENST00000428317.1_Silent_p.T497T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	497					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)	TCTCCTCTGCCGTGTAGTTTC	0.612																																					p.T497T		.											.	ACHE-92	0			c.G1491T						.						50	49	49					7																	100490017		2203	4300	6503	SO:0001819	synonymous_variant	43	exon3			CTCTGCCGTGTAG		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.1491G>T	7.37:g.100490017C>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	126	8	NM_000665	0	0	5	5	0	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	CCDS5709.1																																																																																			.		0.612	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		A	100490017	C	A	100490017	2	1	62	1	0	0	0	0	0	0	0	1	141	639	23	2		2	ACHE	7	100490017	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	72835	100490017	58648646	651	13019											
NAPEPLD	222236	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	102760123	102760123	+	Frame_Shift_Del	DEL	A	A	-													aataaccagtatctcctgcgAaaaaaaatcgattccaaggc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:102760123delA	ENST00000417955.1	-	3	996	c.842delT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.F354fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATCTCCTGCGAAAAAAAATCG	0.463																																					p.F281fs		.											.	NAPEPLD-227	1	Deletion - Frameshift(1)	ovary(1)	c.842delT						.						83	79	80					7																	102760123		2203	4300	6503	SO:0001589	frameshift_variant	222236	exon3			CCTGCGAAAAAAA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.842delT	7.37:g.102760123delA	ENSP00000407112:p.Phe281fs	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	57	31	NM_001122838	0	0	0	0	0	Q5CZ87|Q769K1	Frame_Shift_Del	DEL	ENST00000417955.1	37	CCDS5729.1																																																																																			.		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		-	102760123	A	-	102760123	7	5	62	1	0	1	0	1	0	0	0	0	10201	246	9	0	351	0	NAPEPLD	7	102760123	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	2270106	102760123	56378540	652	13020											
RELN	5649	bcgsc.ca	37	chr7	103230147	103230147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctctggagtttccttcGcatcctttgcctgcagaagc	9	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:103230147G>A	ENST00000428762.1	-	28	4200	c.4041C>T	c.(4039-4041)tgC>tgT	p.C1347C	RELN_ENST00000343529.5_Silent_p.C1347C|RELN_ENST00000424685.2_Silent_p.C1347C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1347					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)	p.C1347C(1)		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)		AGTTTCCTTCGCATCCTTTGC	0.473																																					p.C1347C	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	1	Substitution - coding silent(1)	large_intestine(1)	c.C4041T						.						197	175	183					7																	103230147		2203	4300	6503	SO:0001819	synonymous_variant	5649	exon28			TCCTTCGCATCCT		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.4041C>T	7.37:g.103230147G>A		Somatic	134	3		WXS	Illumina GAIIx	Phase_I	154	64	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			.		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103230147	G	A	103230147	2	1	62	1	0	0	0	0	0	0	0	1	13265	1079	38	1		1	RELN	7	103230147	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	470024	103230147	55908516	653	13021											
ATXN7L1	222255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	105255170	105255170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagatacacagcactgggGttgctgaaaggctgcaaaac	13	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:105255170G>A	ENST00000419735.3	-	10	1656	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	ATXN7L1_ENST00000388807.4_Silent_p.N197N|ATXN7L1_ENST00000477775.1_Silent_p.N413N	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	537	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CAGCACTGGGGTTGCTGAAAG	0.552																																					p.N537N		.											.	ATXN7L1-90	0			c.C1611T						.						78	67	70					7																	105255170		692	1591	2283	SO:0001819	synonymous_variant	222255	exon10			ACTGGGGTTGCTG	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1611C>T	7.37:g.105255170G>A		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	136	53	NM_020725	0	0	0	2	2	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																			.		0.552	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			A	105255170	G	A	105255170	2	1	62	1	0	0	0	0	0	0	0	1	1217	1252	44	3		3	ATXN7L1	7	105255170	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2025023	105255170	53883493	654	13022											
PIK3CG	5294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	106508801	106508801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatattcccgaaagccaAagcgaacaggattttgtgct	10	8	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:106508801A>G	ENST00000359195.3	+	2	1105	c.795A>G	c.(793-795)caA>caG	p.Q265Q	PIK3CG_ENST00000496166.1_Silent_p.Q265Q|PIK3CG_ENST00000440650.2_Silent_p.Q265Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	265	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCGAAAGCCAAAGCGAACAGG	0.552																																					p.Q265Q		.											.	PIK3CG-1316	0			c.A795G						.						62	61	61					7																	106508801		2203	4300	6503	SO:0001819	synonymous_variant	5294	exon2			AAGCCAAAGCGAA		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.795A>G	7.37:g.106508801A>G		Somatic	77	0		WXS	Illumina GAIIx	Phase_I	86	35	NM_002649	0	0	1	1	0	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																			.		0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			G	106508801	A	G	106508801	2	3	62	1	0	0	0	0	0	0	0	1	11955	11	1	4		4	PIK3CG	7	106508801	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1253631	106508801	52629862	655	13023											
COG5	10466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	106844034	106844034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcaaattctttgcctTctctacttctcactgattga	6	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:106844034T>C	ENST00000347053.3	-	21	2497	c.2447A>G	c.(2446-2448)gAa>gGa	p.E816G	COG5_ENST00000297135.3_Missense_Mutation_p.E837G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	816					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTCTTTGCCTTCTCTACTTCT	0.368																																					p.E837G		.											.	COG5-93	0			c.A2510G						.						146	134	138					7																	106844034		2203	4300	6503	SO:0001583	missense	10466	exon22			TTGCCTTCTCTAC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2447A>G	7.37:g.106844034T>C	ENSP00000334703:p.Glu816Gly	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	80	32	NM_006348	0	0	22	44	22	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472580	0.43942	.	.	ENSG00000164597	ENST00000347053;ENST00000297135	T;T	0.16743	2.36;2.32	6.03	4.87	0.63330	.	0.160010	0.56097	D	0.000027	T	0.06280	0.0162	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28839	-1.0031	10	0.16420	T	0.52	-10.9008	11.9745	0.53083	0.0:0.0673:0.0:0.9327	.	816;837	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	816;837	ENSP00000334703:E816G;ENSP00000297135:E837G	ENSP00000297135:E837G	E	-	2	0	COG5	106631270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.277000	0.58939	1.097000	0.41459	0.533000	0.62120	GAA	.		0.368	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			C	106844034	T	C	106844034	3	2	62	1	0	0	0	0	1	0	0	0	3668	1783	62	4	76	4	COG5	7	106844034	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	335233	106844034	52294629	656	13024											
DUS4L	11062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107217974	107217974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagcacatcagcaatcaTagattaccttacagaccatt	5	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:107217974T>C	ENST00000265720.3	+	8	1285	c.923T>C	c.(922-924)aTa>aCa	p.I308T	RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000465919.1_5'Flank|BCAP29_ENST00000445771.2_5'Flank|BCAP29_ENST00000005259.4_5'Flank|BCAP29_ENST00000379117.2_5'Flank|DUS4L_ENST00000402620.1_Missense_Mutation_p.I187T	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	308							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TCAGCAATCATAGATTACCTT	0.338																																					p.I308T		.											.	DUS4L-90	0			c.T923C						.						120	124	122					7																	107217974		2203	4300	6503	SO:0001583	missense	11062	exon8			CAATCATAGATTA	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.923T>C	7.37:g.107217974T>C	ENSP00000265720:p.Ile308Thr	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	116	47	NM_001270419	0	0	3	6	3	B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206064	0.58234	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22539	1.95;1.95	5.67	5.67	0.87782	.	0.127880	0.51477	D	0.000096	T	0.30448	0.0765	M	0.66939	2.045	0.39408	D	0.966692	B;B	0.17038	0.02;0.02	B;B	0.30495	0.116;0.116	T	0.08638	-1.0712	10	0.49607	T	0.09	.	16.215	0.82206	0.0:0.0:0.0:1.0	.	308;308	A4D0R5;O95620	.;DUS4L_HUMAN	T	308;187	ENSP00000265720:I308T;ENSP00000385274:I187T	ENSP00000265720:I308T	I	+	2	0	DUS4L	107005210	1.000000	0.71417	0.951000	0.38953	0.849000	0.48306	5.794000	0.69067	2.288000	0.76882	0.533000	0.62120	ATA	.		0.338	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		C	107217974	T	C	107217974	3	2	62	1	0	0	0	0	1	0	0	0	4822	1406	49	4	945	4	DUS4L	7	107217974	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	373940	107217974	51920689	657	13025											
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107696427	107696427	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcacagatgggcttctgGgtacctgccctgttacaatc	11	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:107696427G>T	ENST00000388781.3	-	25	3488	c.3405C>A	c.(3403-3405)acC>acA	p.T1135T	LAMB4_ENST00000388780.3_Silent_p.T1135T|LAMB4_ENST00000205386.4_Silent_p.T1135T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1135	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGGCTTCTGGGTACCTGCCC	0.527																																					p.T1135T		.											.	LAMB4-140	0			c.C3405A						.						40	40	40					7																	107696427		2203	4300	6503	SO:0001819	synonymous_variant	22798	exon25			CTTCTGGGTACCT	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3405C>A	7.37:g.107696427G>T		Somatic	68	0		WXS	Illumina GAIIx	Phase_I	91	45	NM_007356	0	0	0	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			.		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107696427	G	T	107696427	2	4	62	1	0	0	0	0	0	0	0	1	8641	1219	43	3		3	LAMB4	7	107696427	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	478453	107696427	51442236	658	13026											
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	108112846	108112846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacataagcatatactcatCacaattttgaaaagaatgga	6	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:108112846C>T	ENST00000422087.1	-	12	2754	c.2348G>A	c.(2347-2349)tGa>tAa	p.*783*	PNPLA8_ENST00000453144.1_Silent_p.*683*|PNPLA8_ENST00000436062.1_Silent_p.*783*|PNPLA8_ENST00000426128.2_Silent_p.*721*|PNPLA8_ENST00000388728.5_Silent_p.*721*|PNPLA8_ENST00000257694.8_Silent_p.*783*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	0					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATATACTCATCACAATTTTGA	0.289																																					p.X783X		.											.	PNPLA8-135	0			c.G2348A						.						49	53	52					7																	108112846		2202	4299	6501	SO:0001819	synonymous_variant	50640	exon10			ACTCATCACAATT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2348G>A	7.37:g.108112846C>T		Somatic	210	0		WXS	Illumina GAIIx	Phase_I	259	94	NM_001256008	0	0	30	62	32	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	CCDS34733.1																																																																																			.		0.289	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		T	108112846	C	T	108112846	2	4	62	1	0	0	0	0	0	0	0	1	12210	837	29	3		3	PNPLA8	7	108112846	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	416419	108112846	51025817	659	13027											
LRRN3	54674	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	110764462	110764462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgtcctggaaagcaagttCtaaaattctcaaatctagtg	9	7	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:110764462C>T	ENST00000422987.3	+	2	2465	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.S545F|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S545F	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	545	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAGCAAGTTCTAAAATTCTC	0.363																																					p.S545F		.											.	LRRN3-154	0			c.C1634T						.						61	62	62					7																	110764462		2203	4300	6503	SO:0001583	missense	54674	exon2			CAAGTTCTAAAAT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1634C>T	7.37:g.110764462C>T	ENSP00000412417:p.Ser545Phe	Somatic	51	1		WXS	Illumina GAIIx	Phase_I	66	37	NM_018334	0	0	0	0	0	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741698	0.49151	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.59638	0.25;0.25;0.25	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.73305	0.3570	L	0.58101	1.795	0.44711	D	0.997703	D	0.60575	0.988	P	0.62298	0.9	T	0.71882	-0.4458	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	545	Q9H3W5	LRRN3_HUMAN	F	545	ENSP00000312001:S545F;ENSP00000397312:S545F;ENSP00000412417:S545F	ENSP00000312001:S545F	S	+	2	0	LRRN3	110551698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.526000	0.60566	2.941000	0.99782	0.655000	0.94253	TCT	.		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		T	110764462	C	T	110764462	3	4	62	1	0	0	0	0	1	0	0	0	9071	913	32	3	1636	3	LRRN3	7	110764462	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2651616	110764462	48374201	660	13028											
DOCK4	9732	ucsc.edu;bcgsc.ca	37	chr7	111428773	111428773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttctgacatcaggcTatccagtttgtcaattagct	7	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:111428773T>C	ENST00000437633.1	-	32	3602	c.3346A>G	c.(3346-3348)Agc>Ggc	p.S1116G	DOCK4_ENST00000428084.1_Missense_Mutation_p.S1116G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1116					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)				GACATCAGGCTATCCAGTTTG	0.413																																					p.S1116G		.											.	DOCK4-26	0			c.A3346G						.						121	118	119					7																	111428773		1915	4114	6029	SO:0001583	missense	9732	exon32			TCAGGCTATCCAG		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.3346A>G	7.37:g.111428773T>C	ENSP00000404179:p.Ser1116Gly	Somatic	162	2		WXS	Illumina GAIIx	Phase_I	207	108	NM_014705	0	0	3	3	0	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.09|15.09	2.729314|2.729314	0.48833|0.48833	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000417165	.|T;T;T	.|0.52983	.|1.96;1.96;0.64	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43211|0.43211	0.1237|0.1237	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.16166	.|0.004;0.009;0.004;0.016	.|B;B;B;B	.|0.20384	.|0.005;0.013;0.008;0.029	T|T	0.24799|0.24799	-1.0150|-1.0150	5|10	.|0.26408	.|T	.|0.33	.|.	15.6711|15.6711	0.77274|0.77274	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|14;1152;1116;1116	.|B7Z2K9;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;DOCK4_HUMAN;.	M|G	567;1139|1104;1116;1116;1104;14	.|ENSP00000410746:S1116G;ENSP00000404179:S1116G;ENSP00000403504:S14G	.|ENSP00000345432:S1104G	I|S	-|-	3|1	3|0	DOCK4|DOCK4	111216009|111216009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	ATA|AGC	.		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111428773	T	C	111428773	3	2	62	1	0	0	0	0	1	0	0	0	4703	1522	53	4	2638	4	DOCK4	7	111428773	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	664311	111428773	47709890	661	13029											
MDFIC	29969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	114655908	114655908	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgtgatatggactgTggcatcatggatgcctgttg	13	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:114655908T>C	ENST00000393486.1	+	5	1250	c.660T>C	c.(658-660)tgT>tgC	p.C220C	MDFIC_ENST00000257724.3_Silent_p.C329C	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ATATGGACTGTGGCATCATGG	0.448																																					p.C329C		.											.	MDFIC-91	0			c.T987C						.						305	270	282					7																	114655908		2203	4300	6503	SO:0001819	synonymous_variant	29969	exon5			GGACTGTGGCATC	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.660T>C	7.37:g.114655908T>C		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	113	45	NM_199072	0	0	3	10	7		Silent	SNP	ENST00000393486.1	37	CCDS55155.1																																																																																			.		0.448	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		C	114655908	T	C	114655908	2	2	62	1	0	0	0	0	0	0	0	1	9443	1702	59	4		4	MDFIC	7	114655908	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3227135	114655908	44482755	662	13030											
ASZ1	136991	broad.mit.edu;bcgsc.ca	37	chr7	117062381	117062381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatacataaggggagtccAtccatactgaaagttggaat	10	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:117062381A>G	ENST00000284629.2	-	3	300	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGGGGAGTCCATCCATACTGA	0.408																																					p.W80R		.											.	ASZ1-515	0			c.T238C						.						119	109	112					7																	117062381		2203	4300	6503	SO:0001583	missense	136991	exon3			GAGTCCATCCATA	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.238T>C	7.37:g.117062381A>G	ENSP00000284629:p.Trp80Arg	Somatic	77	2		WXS	Illumina GAIIx	Phase_I	74	36	NM_130768	0	0	0	0	0		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068630	0.76301	.	.	ENSG00000154438	ENST00000284629;ENST00000428663	T;T	0.62364	0.03;0.03	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	N	0.17723	0.515	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72391	-0.4308	10	0.72032	D	0.01	-1.2018	14.8405	0.70220	1.0:0.0:0.0:0.0	.	80;80	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	80;27	ENSP00000284629:W80R;ENSP00000402919:W27R	ENSP00000284629:W80R	W	-	1	0	ASZ1	116849617	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.398000	0.79919	2.131000	0.65755	0.460000	0.39030	TGG	.		0.408	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		G	117062381	A	G	117062381	3	3	62	1	0	0	0	0	1	0	0	0	1070	217	8	4	1233	4	ASZ1	7	117062381	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2406473	117062381	42076282	663	13031											
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	121608015	121608015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctaggagcactgaaTcaaaaaaattggggaaagaa	9	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:121608015T>A	ENST00000393386.2	+	3	546	c.135T>A	c.(133-135)aaT>aaA	p.N45K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N45K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	45	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAGCACTGAATCAAAAAAATT	0.274																																					p.N45K		.											.	PTPRZ1-699	0			c.T135A						.						47	50	49					7																	121608015		2203	4296	6499	SO:0001583	missense	5803	exon3			ACTGAATCAAAAA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.135T>A	7.37:g.121608015T>A	ENSP00000377047:p.Asn45Lys	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	130	58	NM_001206838	0	0	0	0	0	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398263	0.62177	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.53423	0.62;0.62	5.53	3.13	0.36017	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.070766	0.56097	D	0.000021	T	0.67287	0.2877	M	0.85373	2.75	0.31245	N	0.694727	D;D	0.89917	0.994;1.0	D;D	0.97110	0.948;1.0	T	0.70439	-0.4871	10	0.72032	D	0.01	.	8.0679	0.30672	0.0:0.2848:0.0:0.7152	.	45;45	C9JFM0;P23471	.;PTPRZ_HUMAN	K	45	ENSP00000377047:N45K;ENSP00000410000:N45K	ENSP00000377047:N45K	N	+	3	2	PTPRZ1	121395251	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.731000	0.38135	1.038000	0.40049	-0.263000	0.10527	AAT	.		0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121608015	T	A	121608015	3	1	62	1	0	0	0	0	1	0	0	0	12859	1432	50	5	145	5	PTPRZ1	7	121608015	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4545634	121608015	37530648	664	13032											
GPR37	2861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	124404170	124404170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcatgtagtagttgtgGcacacgatgcacatcaccgc	10	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:124404170G>A	ENST00000303921.2	-	1	1511	c.861C>T	c.(859-861)tgC>tgT	p.C287C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	287					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						AGTAGTTGTGGCACACGATGC	0.562																																					p.C287C		.											.	GPR37-523	0			c.C861T						.						109	111	110					7																	124404170		2203	4300	6503	SO:0001819	synonymous_variant	2861	exon1			GTTGTGGCACACG		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.861C>T	7.37:g.124404170G>A		Somatic	127	0		WXS	Illumina GAIIx	Phase_I	162	58	NM_005302	0	0	0	0	0	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																			.		0.562	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124404170	G	A	124404170	2	1	62	1	0	0	0	0	0	0	0	1	6717	1195	42	3		3	GPR37	7	124404170	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2796155	124404170	34734493	665	13033											
GRM8	2918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	126086177	126086177	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaaactctacagatgactTactgttggtttcaagactct	8	9	3	3	rs375571552		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:126086177T>C	ENST00000339582.2	-	10	3486				GRM8_ENST00000358373.3_Missense_Mutation_p.K894E|GRM8_ENST00000444921.2_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						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)				ACAGATGACTTACTGTTGGTT	0.443										HNSCC(24;0.065)																											p.K894E		.											.	GRM8-581	0			c.A2680G						.	T	,GLU/LYS	0,4406		0,0,2203	195	180	185		,2680	5.8	1	7		185	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	GRM8	NM_000845.2,NM_001127323.1	,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	,894/909	126086177	1,13005	2203	4300	6503	SO:0001627	intron_variant	2918	exon10			ATGACTTACTGTT		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.2677+2A>G	7.37:g.126086177T>C		Somatic	117	0		WXS	Illumina GAIIx	Phase_I	150	71	NM_001127323	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	6.862	0.528372	0.13127	0.0	1.16E-4	ENSG00000179603	ENST00000358373	D	0.88201	-2.35	5.83	5.83	0.93111	.	.	.	.	.	T	0.79986	0.4541	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74518	-0.3639	9	0.07482	T	0.82	.	15.3883	0.74723	0.0:0.0:0.0:1.0	.	894	O00222-2	.	E	894	ENSP00000351142:K894E	ENSP00000351142:K894E	K	-	1	0	GRM8	125873413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.002000	0.63952	2.240000	0.73641	0.477000	0.44152	AAG	.		0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			C	126086177	T	C	126086177	1	2	62	0	1	0	0	0	0	0	0	0	6830	1763	61	4		4	GRM8	7	126086177	Intron	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1682007	126086177	33052486	666	13034											
IMPDH1	3614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	128038611	128038611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctcggttcttcttcaggtCggtgcgggcgatgatggcca	15	10	4	1	rs121912550		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128038611C>T	ENST00000480861.1	-	7	738	c.661G>A	c.(661-663)Gac>Aac	p.D221N	IMPDH1_ENST00000378717.4_Missense_Mutation_p.D242N|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D278N|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D275N|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D301N|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D311N|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D201N|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D201N|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D225N	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTCTTCAGGTCGGTGCGGGCG	0.577											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D311N		.											.	IMPDH1-230	0			c.G931A	GRCh37	CM020283	IMPDH1	M	rs121912550	.						79	83	81					7																	128038611		2203	4300	6503	SO:0001583	missense	3614	exon10			TCAGGTCGGTGCG		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.661G>A	7.37:g.128038611C>T	ENSP00000420185:p.Asp221Asn	Somatic	91	0	1561	WXS	Illumina GAIIx	Phase_I	118	54	NM_000883	0	0	9	15	6		Missense_Mutation	SNP	ENST00000480861.1	37	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385780	0.95967	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.98083	0.9368	M	0.91872	3.25	0.80722	A	1	P;P;P;P;P;P;D;P	0.56746	0.734;0.812;0.641;0.819;0.938;0.91;0.977;0.776	B;P;B;P;P;B;B;B	0.51297	0.415;0.54;0.327;0.573;0.665;0.409;0.44;0.405	D	0.99029	1.0820	9	0.72032	D	0.01	-33.4691	16.4619	0.84059	0.0:1.0:0.0:0.0	.	278;221;226;242;301;275;311;201	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	N	278;311;201;301;242;275;201;225;221;242	ENSP00000399400:D278N;ENSP00000345096:D311N;ENSP00000420803:D201N;ENSP00000346219:D301N;ENSP00000367989:D242N;ENSP00000265385:D275N;ENSP00000342438:D201N;ENSP00000417296:D225N;ENSP00000420185:D221N;ENSP00000419609:D242N	ENSP00000345096:D311N	D	-	1	0	IMPDH1	127825847	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	7.794000	0.85869	2.489000	0.83994	0.655000	0.94253	GAC	.		0.577	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		T	128038611	C	T	128038611	3	4	62	1	0	0	0	0	1	0	0	0	7753	884	31	1	900	1	IMPDH1	7	128038611	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1952434	128038611	31100052	667	13035											
IRF5	3663	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	128585921	128585921	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccaaggagacagggaAatacaccgaaggcgtggatg	16	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128585921A>T	ENST00000402030.2	+	3	290	c.218A>T	c.(217-219)aAa>aTa	p.K73I	IRF5_ENST00000249375.4_Missense_Mutation_p.K73I|IRF5_ENST00000473745.1_Missense_Mutation_p.K73I|IRF5_ENST00000477535.1_Missense_Mutation_p.K73I|IRF5_ENST00000357234.5_Missense_Mutation_p.K73I	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	73					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGACAGGGAAATACACCGAA	0.612																																					p.K73I		.											.	IRF5-226	0			c.A218T						.						61	55	57					7																	128585921		2203	4300	6503	SO:0001583	missense	3663	exon3			CAGGGAAATACAC		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.218A>T	7.37:g.128585921A>T	ENSP00000385352:p.Lys73Ile	Somatic	122	1		WXS	Illumina GAIIx	Phase_I	142	66	NM_001098627	0	0	0	0	0	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962217	0.53400	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.14	3.98	0.46160	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	D	0.000009	D	0.99017	0.9664	M	0.93241	3.395	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.997;0.999;0.999;0.997;0.998;0.998	D	0.99072	1.0834	10	0.87932	D	0	-14.5995	9.0213	0.36202	0.9115:0.0:0.0885:0.0	.	73;73;73;73;73;73;73;73	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	I	73	ENSP00000418037:K73I;ENSP00000349770:K73I;ENSP00000419950:K73I;ENSP00000417770:K73I;ENSP00000419056:K73I;ENSP00000385352:K73I;ENSP00000249375:K73I;ENSP00000419149:K73I	ENSP00000249375:K73I	K	+	2	0	IRF5	128373157	1.000000	0.71417	0.393000	0.26258	0.063000	0.16089	5.858000	0.69532	0.803000	0.34113	0.454000	0.30748	AAA	.		0.612	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		T	128585921	A	T	128585921	3	4	62	1	0	0	0	0	1	0	0	0	7860	14	1	5	224	5	IRF5	7	128585921	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	547310	128585921	30552742	668	13036											
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	133842788	133842788	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtagtcatggtgtatagGcaatgagatagaagaaatca	11	4	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:133842788G>A	ENST00000285928.2	+	6	740	c.671G>A	c.(670-672)gGc>gAc	p.G224D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	224						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGTGTATAGGCAATGAGATA	0.353																																					p.G224D		.											.	LRGUK-227	0			c.G671A						.						107	96	99					7																	133842788		2203	4300	6503	SO:0001630	splice_region_variant	136332	exon6			GTATAGGCAATGA	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.671-1G>A	7.37:g.133842788G>A		Somatic	85	0		WXS	Illumina GAIIx	Phase_I	114	37	NM_144648	0	0	0	0	0	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444453	0.25987	.	.	ENSG00000155530	ENST00000285928	T	0.25414	1.8	5.65	-4.52	0.03472	.	0.908439	0.09627	N	0.776709	T	0.17916	0.0430	L	0.31420	0.93	0.31297	N	0.688761	B	0.15141	0.012	B	0.13407	0.009	T	0.31696	-0.9934	9	.	.	.	.	16.3106	0.82869	0.8859:0.0:0.1141:0.0	.	224	Q96M69	LRGUK_HUMAN	D	224	ENSP00000285928:G224D	.	G	+	2	0	LRGUK	133493328	0.959000	0.32827	0.077000	0.20336	0.007000	0.05969	-0.076000	0.11412	-0.650000	0.05423	-0.262000	0.10625	GGC	.		0.353	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	Missense_Mutation	A	133842788	G	A	133842788	5	1	62	1	0	0	0	0	0	0	1	0	8978	1217	42	3	693	3	LRGUK	7	133842788	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5256867	133842788	25295875	669	13037											
NUP205	23165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	135262571	135262571	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcattaaggagtgcaggCagtctcttgcagaaagcctt	10	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:135262571C>T	ENST00000285968.6	+	6	702	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	NUP205_ENST00000440390.2_Nonsense_Mutation_p.Q20*	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	226					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						GGAGTGCAGGCAGTCTCTTGC	0.403																																					p.Q226X		.											.	NUP205-207	0			c.C676T						.						78	76	76					7																	135262571		2203	4300	6503	SO:0001587	stop_gained	23165	exon6			TGCAGGCAGTCTC	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.676C>T	7.37:g.135262571C>T	ENSP00000285968:p.Gln226*	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	108	44	NM_015135	0	0	5	5	0	A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	42	9.674224	0.99236	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-21.1488	19.4875	0.95035	0.0:1.0:0.0:0.0	.	.	.	.	X	226;20	.	ENSP00000285968:Q226X	Q	+	1	0	NUP205	134913111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.048000	0.71046	2.615000	0.88500	0.655000	0.94253	CAG	.		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135262571	C	T	135262571	4	4	62	1	0	0	0	0	0	1	0	0	10798	711	25	3	698	3	NUP205	7	135262571	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1419783	135262571	23876092	670	13038											
TBXAS1	6916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139655387	139655387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaattctgcatccccagAcctatcctggttttactctg	6	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:139655387A>G	ENST00000336425.5	+	11	1058	c.669A>G	c.(667-669)agA>agG	p.R223R	TBXAS1_ENST00000425687.1_Silent_p.R156R|TBXAS1_ENST00000411653.1_Silent_p.R223R|TBXAS1_ENST00000436047.2_Silent_p.R224R|TBXAS1_ENST00000416849.2_Silent_p.R270R|TBXAS1_ENST00000448866.1_Silent_p.R223R|TBXAS1_ENST00000414508.2_Silent_p.R224R|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Silent_p.R269R|TBXAS1_ENST00000263552.6_Silent_p.R224R			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	223					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCATCCCCAGACCTATCCTGG	0.602																																					p.R270R		.											.	TBXAS1-155	0			c.A810G						.						63	70	67					7																	139655387		2203	4300	6503	SO:0001819	synonymous_variant	6916	exon8			CCCCAGACCTATC	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.669A>G	7.37:g.139655387A>G		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	75	30	NM_001166253	0	0	2	2	0	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37																																																																																				.		0.602	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			G	139655387	A	G	139655387	2	3	62	1	0	0	0	0	0	0	0	1	15711	272	10	4		4	TBXAS1	7	139655387	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4392816	139655387	19483276	671	13039											
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	140246681	140246681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccatgacacttctcAtgagtggctgaaccagggca	12	11	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:140246681A>T	ENST00000275884.6	-	12	2513	c.2096T>A	c.(2095-2097)aTg>aAg	p.M699K	DENND2A_ENST00000492720.1_Missense_Mutation_p.M699K|DENND2A_ENST00000496613.1_Missense_Mutation_p.M699K|DENND2A_ENST00000537639.1_Missense_Mutation_p.M699K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	699	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)					GACACTTCTCATGAGTGGCTG	0.512																																					p.M699K		.											.	DENND2A-138	0			c.T2096A						.						67	71	70					7																	140246681		1978	4177	6155	SO:0001583	missense	27147	exon11			CTTCTCATGAGTG	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.2096T>A	7.37:g.140246681A>T	ENSP00000275884:p.Met699Lys	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	182	73	NM_015689	0	0	4	4	0	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816443	0.90790	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.63	5.63	0.86233	DENN (3);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.987	T	0.51903	-0.8646	10	0.87932	D	0	-35.7477	15.8309	0.78749	1.0:0.0:0.0:0.0	.	699;699	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	699;699;699;46;699	ENSP00000275884:M699K;ENSP00000442245:M699K;ENSP00000419654:M699K;ENSP00000420145:M46K;ENSP00000419464:M699K	ENSP00000275884:M699K	M	-	2	0	DENND2A	139893150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.140000	0.94607	2.152000	0.67230	0.459000	0.35465	ATG	.		0.512	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140246681	A	T	140246681	3	4	62	1	0	0	0	0	1	0	0	0	4443	217	8	5	965	5	DENND2A	7	140246681	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	591294	140246681	18891982	672	13040											
AGK	55750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141333740	141333740	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgcaatgaccggccttCgatggggatctttcagagat	11	8	2	2	rs368565785		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141333740C>T	ENST00000355413.4	+	10	888	c.628C>T	c.(628-630)Cga>Tga	p.R210*	AGK_ENST00000535825.1_Nonsense_Mutation_p.R207*|AGK_ENST00000473247.1_Nonsense_Mutation_p.R182*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	210					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACCGGCCTTCGATGGGGATC	0.368																																					p.R210X		.											.	AGK-290	0			c.C628T						.	C	stop/ARG	0,4406		0,0,2203	120	122	121		628	4.7	0.8	7		121	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	AGK	NM_018238.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		210/423	141333740	1,13005	2203	4300	6503	SO:0001587	stop_gained	55750	exon10			GGCCTTCGATGGG	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.628C>T	7.37:g.141333740C>T	ENSP00000347581:p.Arg210*	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	84	35	NM_018238	0	0	27	28	1	Q75KN1|Q96GC3|Q9NP48	Nonsense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645391	0.96704	0.0	1.16E-4	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	.	.	.	5.66	4.71	0.59529	.	0.052163	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.7788	0.57464	0.1968:0.8032:0.0:0.0	.	.	.	.	X	210;182;207	.	ENSP00000347581:R210X	R	+	1	2	AGK	140980209	0.533000	0.26354	0.769000	0.31535	0.930000	0.56654	0.847000	0.27696	2.681000	0.91329	0.655000	0.94253	CGA	.		0.368	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		T	141333740	C	T	141333740	4	4	62	1	0	0	0	0	0	1	0	0	383	876	31	1	662	1	AGK	7	141333740	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1087059	141333740	17804923	673	13041											
MGAM	8972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	141736707	141736707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccgctatactctattgCcctacctatacaccctcttc	2	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141736707C>T	ENST00000549489.2	+	18	2256	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S	MGAM_ENST00000475668.2_Missense_Mutation_p.P721S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	721	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACTCTATTGCCCTACCTATA	0.512																																					p.P721S		.											.	MGAM-70	0			c.C2161T						.						200	205	203					7																	141736707		2094	4224	6318	SO:0001583	missense	8972	exon18			CTATTGCCCTACC	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.2161C>T	7.37:g.141736707C>T	ENSP00000447378:p.Pro721Ser	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	104	48	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095970	0.94197	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.96522	-4.04	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000059	D	0.98723	0.9571	H	0.96175	3.78	0.58432	D	0.999996	D	0.71674	0.998	D	0.64237	0.923	D	0.99474	1.0946	10	0.87932	D	0	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	721	O43451	MGA_HUMAN	S	721;721;598	ENSP00000447378:P721S	ENSP00000316431:P598S	P	+	1	0	MGAM	141383176	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	7.818000	0.86416	2.763000	0.94921	0.650000	0.86243	CCC	.		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141736707	C	T	141736707	3	4	62	1	0	0	0	0	1	0	0	0	9579	739	26	3	2227	3	MGAM	7	141736707	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	402967	141736707	17401956	674	13042											
MGAM	8972	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	141805626	141805626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctaacaggtattaagcatcGatgtgactgacagaaacatc	8	9	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141805626G>A	ENST00000549489.2	+	48	5604	c.5509G>A	c.(5509-5511)Gat>Aat	p.D1837N	MGAM_ENST00000475668.2_Missense_Mutation_p.D2733N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1837					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.D1837H(2)|p.D2734H(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTAAGCATCGATGTGACTGA	0.373																																					p.D1837N		.											.	MGAM-70	3	Substitution - Missense(3)	lung(3)	c.G5509A						.						127	118	121					7																	141805626		1851	4112	5963	SO:0001583	missense	8972	exon48			AGCATCGATGTGA	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.5509G>A	7.37:g.141805626G>A	ENSP00000447378:p.Asp1837Asn	Somatic	95	1		WXS	Illumina GAIIx	Phase_I	80	30	NM_004668	0	0	2	3	1	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	3.859	-0.030216	0.07543	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89123	-2.47	5.43	-3.87	0.04218	.	.	.	.	.	T	0.78679	0.4321	N	0.17674	0.51	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.60094	-0.7330	9	0.28530	T	0.3	.	12.6769	0.56899	0.7837:0.0:0.2163:0.0	.	1837	O43451	MGA_HUMAN	N	1837;2734	ENSP00000447378:D1837N	ENSP00000373973:D1837N	D	+	1	0	MGAM	141452095	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.618000	0.05578	-0.629000	0.05575	-0.123000	0.14984	GAT	.		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141805626	G	A	141805626	3	1	62	1	0	0	0	0	1	0	0	0	9579	1058	37	1	5695	1	MGAM	7	141805626	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	68919	141805626	17333037	675	13043											
TRYX3	136541	broad.mit.edu	37	chr7	141955448	141955448	+	Frame_Shift_Del	DEL	G	G	-													atttcaaatagaccaagtaaGggggagtggagctgactgtg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141955448delG	ENST00000552471.1	-	2	405	c.86delC	c.(85-87)cctfs	p.P29fs	PRSS58_ENST00000547058.2_Frame_Shift_Del_p.P29fs			Q8IYP2	PRS58_HUMAN	protease, serine, 58	29	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						GACCAAGTAAGGGGGAGTGGA	0.468																																					p.P29fs		.											.	PRSS58-24	0			c.86delC						.			0,4264		0,0,2132	86	84	85			-3.4	0.2	7		84	1,8253		0,1,4126	no	frameshift	PRSS58	NM_001001317.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			141955448	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	136541	exon3			AAGTAAGGGGGAG		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.86delC	7.37:g.141955448delG	ENSP00000446916:p.Pro29fs	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	233	8	NM_001001317	0	0	0	0	0	B3KVJ6|D3DXD2	Frame_Shift_Del	DEL	ENST00000552471.1	37	CCDS5871.1																																																																																			.		0.468	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		-	141955448	G	-	141955448	7	5	62	1	0	1	0	1	0	0	0	0	16652	1000	35	0	655	0	TRYX3	7	141955448	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	149822	141955448	17183215	676	13044											
PRSS1	5644	bcgsc.ca	37	chr7	142458511	142458511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctaccacttctgtgGtggctccctcatcaacgaac	8	14	4	0	rs138464021		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142458511G>T	ENST00000311737.7	+	2	152	c.146G>T	c.(145-147)gGt>gTt	p.G49V	PRSS1_ENST00000486171.1_Missense_Mutation_p.G49V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	49	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)	CACTTCTGTGGTGGCTCCCTC	0.567																																					p.G49V		.											.	PRSS1-577	0			c.G146T						.						105	104	104					7																	142458511		2203	4300	6503	SO:0001583	missense	5644	exon2			TCTGTGGTGGCTC	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.146G>T	7.37:g.142458511G>T	ENSP00000308720:p.Gly49Val	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	283	21	NM_002769	0	0	0	0	0	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396129	0.42512	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94000	-3.33;-3.33	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98595	1.0656	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	49	P07477	TRY1_HUMAN	V	49	ENSP00000417854:G49V;ENSP00000308720:G49V	ENSP00000308720:G49V	G	+	2	0	PRSS1	142138085	1.000000	0.71417	0.132000	0.22025	0.019000	0.09904	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGT	G|0.951;T|0.049		0.567	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			T	142458511	G	T	142458511	3	4	62	1	0	0	0	0	1	0	0	0	12656	1261	44	3	152	3	PRSS1	7	142458511	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	503063	142458511	16680152	677	13045											
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142562373	142562373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagagccagaggaggatgGagtagggggccaggcaggag	21	6	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142562373G>A	ENST00000392957.2	+	7	1602	c.815G>A	c.(814-816)gGa>gAa	p.G272E	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G272E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	272	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAGGAGGATGGAGTAGGGGGC	0.677																																					p.G272E		.											.	EPHB6-1489	0			c.G815A						.						38	47	44					7																	142562373		2174	4247	6421	SO:0001583	missense	2051	exon7			AGGATGGAGTAGG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.815G>A	7.37:g.142562373G>A	ENSP00000376684:p.Gly272Glu	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	102	26	NM_004445	0	0	1	1	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699413	0.48307	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.69306	-0.39;-0.39	5.17	4.29	0.51040	.	0.000000	0.47093	D	0.000248	T	0.34745	0.0908	N	0.01048	-1.04	0.80722	D	1	P	0.48503	0.911	B	0.42282	0.382	T	0.45542	-0.9254	10	0.72032	D	0.01	.	6.3766	0.21511	0.0909:0.0:0.728:0.1811	.	272	O15197	EPHB6_HUMAN	E	272	ENSP00000376684:G272E;ENSP00000410789:G272E	ENSP00000376684:G272E	G	+	2	0	EPHB6	142272495	0.987000	0.35691	0.900000	0.35374	0.922000	0.55478	2.192000	0.42649	1.403000	0.46800	0.655000	0.94253	GGA	.		0.677	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142562373	G	A	142562373	3	1	62	1	0	0	0	0	1	0	0	0	5194	1174	41	3	825	3	EPHB6	7	142562373	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	103862	142562373	16576290	678	13046											
OR6V1	346517	broad.mit.edu;mdanderson.org	37	chr7	142750331	142750331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagacagttaaaacagtGctacaggggcagatgcagag	12	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142750331G>A	ENST00000418316.1	+	1	915	c.894G>A	c.(892-894)gtG>gtA	p.V298V		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	298						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)					TTAAAACAGTGCTACAGGGGC	0.537																																					p.V298V		.											.	OR6V1-23	0			c.G894A						.						46	46	46					7																	142750331		1918	4126	6044	SO:0001819	synonymous_variant	346517	exon1			AACAGTGCTACAG		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.894G>A	7.37:g.142750331G>A		Somatic	31	0		WXS	Illumina GAIIx	Phase_I	48	19	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	CCDS47728.1																																																																																			.		0.537	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142750331	G	A	142750331	2	1	62	1	0	0	0	0	0	0	0	1	11250	1306	46	3		3	OR6V1	7	142750331	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	187958	142750331	16388332	679	13047											
EPHA1	2041	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	143088818	143088818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagccactcagagacggttCgatatgggatcccatctgag	12	11	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:143088818C>T	ENST00000275815.3	-	17	2833	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	916	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R916Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGAGACGGTTCGATATGGGAT	0.582																																					p.R916Q		.											.	EPHA1-1436	1	Substitution - Missense(1)	large_intestine(1)	c.G2747A						.						83	63	70					7																	143088818		2203	4300	6503	SO:0001583	missense	2041	exon17			ACGGTTCGATATG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2747G>A	7.37:g.143088818C>T	ENSP00000275815:p.Arg916Gln	Somatic	116	0		WXS	Illumina GAIIx	Phase_I	136	8	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726943	0.48833	.	.	ENSG00000146904	ENST00000275815	T	0.49139	0.79	4.67	4.67	0.58626	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46758	D	0.000274	T	0.58949	0.2158	L	0.33245	0.995	0.38179	D	0.93956	D	0.89917	1.0	D	0.76071	0.987	T	0.61821	-0.6984	10	0.44086	T	0.13	.	18.1442	0.89649	0.0:1.0:0.0:0.0	.	916	P21709	EPHA1_HUMAN	Q	916	ENSP00000275815:R916Q	ENSP00000275815:R916Q	R	-	2	0	EPHA1	142798940	0.931000	0.31567	0.375000	0.26029	0.004000	0.04260	2.005000	0.40864	2.583000	0.87209	0.561000	0.74099	CGA	.		0.582	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143088818	C	T	143088818	3	4	62	1	0	0	0	0	1	0	0	0	5181	884	31	1	191	1	EPHA1	7	143088818	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	338487	143088818	16049845	680	13048											
OR2F2	135948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143632752	143632752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggagggctgtgtgctAggttggccatcacatcctgg	15	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:143632752A>G	ENST00000408955.2	+	1	494	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCTGTGTGCTAGGTTGGCCAT	0.527																																					p.R143G		.											.	OR2F2-94	0			c.A427G						.						129	116	120					7																	143632752		2203	4300	6503	SO:0001583	missense	135948	exon1			TGTGCTAGGTTGG		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.427A>G	7.37:g.143632752A>G	ENSP00000386222:p.Arg143Gly	Somatic	273	1		WXS	Illumina GAIIx	Phase_I	342	136	NM_001004685	0	0	0	0	0	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	0.562	-0.844900	0.02671	.	.	ENSG00000221910	ENST00000408955	T	0.00115	8.71	3.68	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.107460	0.41823	D	0.000804	T	0.00073	0.0002	N	0.02665	-0.54	0.09310	N	1	B	0.31859	0.343	B	0.37198	0.243	T	0.07290	-1.0780	10	0.18276	T	0.48	-4.3533	3.5187	0.07734	0.6429:0.2334:0.1237:0.0	.	143	O95006	OR2F2_HUMAN	G	143	ENSP00000386222:R143G	ENSP00000386222:R143G	R	+	1	2	OR2F2	143263685	0.000000	0.05858	0.106000	0.21319	0.283000	0.27025	0.201000	0.17276	1.664000	0.50801	0.402000	0.26972	AGG	.		0.527	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			G	143632752	A	G	143632752	3	3	62	1	0	0	0	0	1	0	0	0	11036	411	15	4	429	4	OR2F2	7	143632752	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	543934	143632752	15505911	681	13049											
ZNF467	168544	hgsc.bcm.edu	37	chr7	149462337	149462337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgcgctggggcaccacGggatcggatcctgggccgca	19	13	0	0	rs855667	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149462337G>A	ENST00000302017.3	-	5	1667	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	418					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)			GGGGCACCACGGGATCGGATC	0.776													A|||	1297	0.258986	0.6051	0.1513	5008	,	,		9829	0.0774		0.1779	False		,,,				2504	0.138				p.P418P		.											.	ZNF467-90	0			c.C1254T						.	A		1016,1770		158,700,535	2	2	2		1254	-5.3	0	7	dbSNP_86	2	781,5233		68,645,2294	no	coding-synonymous	ZNF467	NM_207336.1		226,1345,2829	AA,AG,GG		12.9864,36.4681,20.4205		418/596	149462337	1797,7003	1393	3007	4400	SO:0001819	synonymous_variant	168544	exon5			CACCACGGGATCG	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.1254C>T	7.37:g.149462337G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	4	NM_207336	0	0	1	2	1		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			G|0.763;A|0.237		0.776	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		A	149462337	G	A	149462337	2	1	62	1	0	0	0	0	0	0	0	1	17975	1103	39	1		1	ZNF467	7	149462337	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5829585	149462337	9676326	682	13050											
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	149493469	149493469	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctggcagcttttccccaGaaactgggatgacctggacc	11	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149493469G>A	ENST00000378016.2	+	0	6545							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)			CTTTTCCCCAGAAACTGGGAT	0.562																																					p.R2182K		.											.	.	0			c.G6545A						.						93	105	101					7																	149493469		2099	4215	6314			23145	exon44			TCCCCAGAAACTG	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.149493469G>A		Somatic	135	1		WXS	Illumina GAIIx	Phase_I	165	72	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.562	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149493469	G	A	149493469	1	1	62	0	1	0	0	0	0	0	0	0	15236	942	33	3		3	SSPO	7	149493469	RNA	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	31132	149493469	9645194	683	13051											
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	149508059	149508059	+	RNA	DEL	C	C	-													gcccacgaggggcacctctaCcccccgggcagcactgtggt					rs556475718		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149508059delC	ENST00000378016.2	+	0	9453							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)			GGCACCTCTACCCCCCGGGCA	0.607																																					p.Y3151fs		.											.	.	0			c.9453delC						.						47	54	51					7																	149508059		1957	4139	6096			23145	exon66			CCTCTACCCCCCG	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.149508059delC		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	83	32	NM_198455	0	0	0	0	0	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																				.		0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				-	149508059	C	-	149508059	6	5	62	0	1	1	0	1	0	0	0	0	15236	518	18	0		0	SSPO	7	149508059	RNA	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	14590	149508059	9630604	684	13052											
LRRC61	65999	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150034194	150034194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctagctgtgctcaatGtctccaacaatcggctgacg	10	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150034194G>A	ENST00000359623.4	+	3	832	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	LRRC61_ENST00000323078.7_Missense_Mutation_p.V82I|LRRC61_ENST00000493307.1_Missense_Mutation_p.V82I	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	82										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGTGCTCAATGTCTCCAACAA	0.652																																					p.V82I		.											.	LRRC61-90	0			c.G244A						.						46	45	45					7																	150034194		2203	4296	6499	SO:0001583	missense	65999	exon2			CTCAATGTCTCCA	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.244G>A	7.37:g.150034194G>A	ENSP00000352642:p.Val82Ile	Somatic	60	1		WXS	Illumina GAIIx	Phase_I	97	34	NM_023942	0	0	0	0	0	B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886292	0.17540	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.09255	3.0;3.0;3.0	5.08	5.08	0.68730	.	0.283939	0.27861	N	0.017550	T	0.13841	0.0335	L	0.33710	1.025	0.33640	D	0.607129	P	0.52316	0.952	P	0.51615	0.675	T	0.11299	-1.0593	10	0.32370	T	0.25	-35.956	11.1591	0.48505	0.0:0.0:0.8159:0.1841	.	82	Q9BV99	LRC61_HUMAN	I	82	ENSP00000339047:V82I;ENSP00000352642:V82I;ENSP00000420560:V82I	ENSP00000339047:V82I	V	+	1	0	LRRC61	149665127	0.934000	0.31675	0.648000	0.29521	0.311000	0.27955	1.744000	0.38268	2.374000	0.81015	0.555000	0.69702	GTC	.		0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		A	150034194	G	A	150034194	3	1	62	1	0	0	0	0	1	0	0	0	9052	1377	48	3	246	3	LRRC61	7	150034194	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	526135	150034194	9104469	685	13053											
REPIN1	29803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150069842	150069842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtccaacctggtgtcGcaccggcgcatccacacggg	12	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150069842G>A	ENST00000425389.2	+	1	1590	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Silent_p.S504S|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Silent_p.S504S|REPIN1_ENST00000444957.1_Silent_p.S504S|REPIN1_ENST00000489432.2_Silent_p.S561S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	504					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667																																					p.S561S		.											.	REPIN1-69	0			c.G1683A						.						43	50	48					7																	150069842		2203	4299	6502	SO:0001819	synonymous_variant	29803	exon3			GGTGTCGCACCGG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1512G>A	7.37:g.150069842G>A		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	149	64	NM_001099695	0	0	33	59	26	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																			.		0.667	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150069842	G	A	150069842	2	1	62	1	0	0	0	0	0	0	0	1	13272	1074	38	1		1	REPIN1	7	150069842	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	35648	150069842	9068821	686	13054											
GIMAP8	155038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150174335	150174335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgggacggacaggagGtggtggttgtggacactcct	18	7	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150174335G>A	ENST00000307271.3	+	5	2039	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	489	AIG1-type G 3.|Poly-Val.					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)		CGGACAGGAGGTGGTGGTTGT	0.587																																					p.V489M		.											.	GIMAP8-95	0			c.G1465A						.						91	81	84					7																	150174335		2203	4300	6503	SO:0001583	missense	155038	exon5			CAGGAGGTGGTGG	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1465G>A	7.37:g.150174335G>A	ENSP00000305107:p.Val489Met	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	212	83	NM_175571	0	0	1	1	0		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926472	0.73327	.	.	ENSG00000171115	ENST00000307271	T	0.08984	3.03	4.42	-0.568	0.11760	AIG1 (1);	0.371433	0.19500	N	0.112743	T	0.23727	0.0574	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02371	-1.1169	10	0.59425	D	0.04	.	8.2066	0.31458	0.3853:0.0:0.6147:0.0	.	489	Q8ND71	GIMA8_HUMAN	M	489	ENSP00000305107:V489M	ENSP00000305107:V489M	V	+	1	0	GIMAP8	149805268	0.011000	0.17503	0.015000	0.15790	0.847000	0.48162	-0.169000	0.09911	-0.039000	0.13602	0.643000	0.83706	GTG	.		0.587	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150174335	G	A	150174335	3	1	62	1	0	0	0	0	1	0	0	0	6411	1261	44	3	1479	3	GIMAP8	7	150174335	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	104493	150174335	8964328	687	13055											
SLC4A2	6522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150771569	150771569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagtattgaggacacctaTacccaggtaaggtgctgccc	10	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150771569T>C	ENST00000485713.1	+	18	3914	c.2874T>C	c.(2872-2874)taT>taC	p.Y958Y	FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Silent_p.Y944Y|SLC4A2_ENST00000392826.2_Silent_p.Y949Y|SLC4A2_ENST00000413384.2_Silent_p.Y958Y|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.Y876Y	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	958	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACACCTATACCCAGGTAA	0.592																																					p.Y958Y		.											.	SLC4A2-90	0			c.T2874C						.						97	87	90					7																	150771569		2203	4300	6503	SO:0001819	synonymous_variant	6522	exon18			CACCTATACCCAG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2874T>C	7.37:g.150771569T>C		Somatic	91	0		WXS	Illumina GAIIx	Phase_I	90	39	NM_003040	0	0	0	0	0	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																			.		0.592	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		C	150771569	T	C	150771569	2	2	62	1	0	0	0	0	0	0	0	1	14699	1413	49	4		4	SLC4A2	7	150771569	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	597234	150771569	8367094	688	13056											
SHH	6469	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr7	155596348	155596348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtccttcaccagcttgGtgccgccctgctccaggtgc	11	16	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:155596348G>A	ENST00000297261.2	-	3	785	c.635C>T	c.(634-636)aCc>aTc	p.T212I	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	212					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGCTTGGTGCCGCCCTG	0.682																																					p.T212I		.											.	SHH-1134	0			c.C635T						.						12	15	14					7																	155596348		2193	4287	6480	SO:0001583	missense	6469	exon3			AGCTTGGTGCCGC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.635C>T	7.37:g.155596348G>A	ENSP00000297261:p.Thr212Ile	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	81	36	NM_000193	0	0	0	0	0	A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840024	0.32513	.	.	ENSG00000164690	ENST00000297261	D	0.99298	-5.71	4.35	3.45	0.39498	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.209202	0.41097	D	0.000954	D	0.98460	0.9487	L	0.56340	1.77	0.32413	N	0.550352	D;B	0.55800	0.973;0.451	P;B	0.53988	0.739;0.242	D	0.98576	1.0648	10	0.38643	T	0.18	.	9.4632	0.38798	0.0:0.1567:0.6809:0.1624	.	212;215	Q15465;D9ZGF9	SHH_HUMAN;.	I	212	ENSP00000297261:T212I	ENSP00000297261:T212I	T	-	2	0	SHH	155289109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	1.033000	0.39918	0.556000	0.70494	ACC	.		0.682	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		A	155596348	G	A	155596348	3	1	62	1	0	0	0	0	1	0	0	0	14324	1261	44	3	757	3	SHH	7	155596348	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4824779	155596348	3542315	689	13057											
VIPR2	7434	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	158829448	158829448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaggggcacacttaccccatCcgatcaggaggtaggccagg	13	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:158829448C>G	ENST00000262178.2	-	7	928	c.743G>C	c.(742-744)gGa>gCa	p.G248A	VIPR2_ENST00000377633.3_Missense_Mutation_p.G232A|VIPR2_ENST00000402066.1_Missense_Mutation_p.G389A	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	248					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTTACCCCATCCGATCAGGAG	0.587																																					p.G248A	Pancreas(154;1876 1931 2329 17914 20079)	.											.	VIPR2-91	0			c.G743C						.						46	38	41					7																	158829448		2203	4299	6502	SO:0001583	missense	7434	exon7			CCCCATCCGATCA	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.743G>C	7.37:g.158829448C>G	ENSP00000262178:p.Gly248Ala	Somatic	111	1		WXS	Illumina GAIIx	Phase_I	148	56	NM_003382	0	0	0	0	0	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597171	0.46318	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	D;D;D	0.84516	-1.86;-1.86;-1.86	4.68	3.8	0.43715	GPCR, family 2-like (1);	0.121727	0.36740	N	0.002427	D	0.94886	0.8347	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94921	0.8073	9	.	.	.	.	10.6377	0.45575	0.0:0.905:0.0:0.095	.	248	P41587	VIPR2_HUMAN	A	248;232;389	ENSP00000262178:G248A;ENSP00000366860:G232A;ENSP00000384497:G389A	.	G	-	2	0	VIPR2	158522209	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	6.921000	0.75805	0.961000	0.38030	-0.258000	0.10820	GGA	.		0.587	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		G	158829448	C	G	158829448	3	3	62	1	0	0	0	0	1	0	0	0	17219	855	30	3	601	3	VIPR2	7	158829448	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3233100	158829448	309215	690	13058											
CSMD1	64478	hgsc.bcm.edu;bcgsc.ca	37	chr8	2909997	2909997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttacgcttacacgtgggCggcttccccttgttactcca	8	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:2909997C>T	ENST00000520002.1	-	51	8205	c.7650G>A	c.(7648-7650)ccG>ccA	p.P2550P	CSMD1_ENST00000602723.1_Silent_p.P2550P|CSMD1_ENST00000400186.3_Silent_p.P2550P|CSMD1_ENST00000542608.1_Silent_p.P2549P|CSMD1_ENST00000602557.1_Silent_p.P2550P|CSMD1_ENST00000537824.1_Silent_p.P2549P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2550	Sushi 15. {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)		TACACGTGGGCGGCTTCCCCT	0.522																																					p.P2549P		.											.	CSMD1-86	0			c.G7647A						.						57	54	55					8																	2909997		1980	4158	6138	SO:0001819	synonymous_variant	64478	exon50			CGTGGGCGGCTTC			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.7650G>A	8.37:g.2909997C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	72	5	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	0.830	-0.745481	0.03065	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.32	-9.2	0.00682	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39961	-0.9588	4	.	.	.	.	2.7572	0.05296	0.0999:0.1738:0.1779:0.5484	.	.	.	.	T	1967	.	.	A	-	1	0	CSMD1	2897404	0.086000	0.21541	0.002000	0.10522	0.063000	0.16089	-1.068000	0.03447	-2.034000	0.00924	-0.119000	0.15052	GCC	.		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2909997	C	T	2909997	2	4	62	1	0	0	0	0	0	0	0	1	3953	755	27	1		1	CSMD1	8	2909997	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10		2909997	143454025	691	13059											
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	10465815	10465815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttctgactctggctcGtcctccccttcagtctccag	7	18	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:10465815G>A	ENST00000382483.3	-	4	6016	c.5793C>T	c.(5791-5793)gaC>gaT	p.D1931D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2011	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTCTGGCTCGTCCTCCCCTT	0.607																																					p.D1931D		.											.	RP1L1-139	0			c.C5793T						.						124	139	134					8																	10465815		2042	4177	6219	SO:0001819	synonymous_variant	94137	exon4			TGGCTCGTCCTCC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5793C>T	8.37:g.10465815G>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	26	18	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			.		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10465815	G	A	10465815	2	1	62	1	0	0	0	0	0	0	0	1	13578	1136	40	1		1	RP1L1	8	10465815	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7555818	10465815	135898207	692	13060											
AMAC1L2	83650	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	11189624	11189624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagaggacagggaaggtgGaggagtgagatagaacttgg	20	2	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:11189624G>A	ENST00000382435.4	+	1	1228	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	337						integral component of membrane (GO:0016021)											AGGGAAGGTGGAGGAGTGAGA	0.478																																					p.E337K		.											.	.	0			c.G1009A						.						47	51	50					8																	11189624		2203	4300	6503	SO:0001583	missense	83650	exon1			AAGGTGGAGGAGT	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1009G>A	8.37:g.11189624G>A	ENSP00000371872:p.Glu337Lys	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	60	21	NM_054028	0	0	0	0	0	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	11.39	1.625459	0.28889	.	.	ENSG00000177710	ENST00000382435	T	0.36699	1.24	.	.	.	.	0.146689	0.30771	N	0.008908	T	0.27489	0.0675	L	0.44542	1.39	0.27572	N	0.949869	P	0.46395	0.877	B	0.43194	0.411	T	0.13845	-1.0494	8	0.51188	T	0.08	-6.6001	.	.	.	.	337	Q96KT7	S35G5_HUMAN	K	337	ENSP00000371872:E337K	ENSP00000371872:E337K	E	+	1	0	SLC35G5	11227034	0.390000	0.25213	0.257000	0.24404	0.258000	0.26162	-0.606000	0.05654	0.064000	0.16427	0.064000	0.15345	GAG	.		0.478	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11189624	G	A	11189624	3	1	62	1	0	0	0	0	1	0	0	0	560	1175	41	3	1011	3	AMAC1L2	8	11189624	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	723809	11189624	135174398	693	13061											
LONRF1	91694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	12580711	12580711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctggtatcgtgggtctAcagggagaactgcaagaagc	14	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:12580711A>G	ENST00000398246.3	-	12	2285	c.2216T>C	c.(2215-2217)gTa>gCa	p.V739A	LONRF1_ENST00000525024.1_Missense_Mutation_p.V165A|LONRF1_ENST00000533751.1_Missense_Mutation_p.V382A	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	739	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)		TCGTGGGTCTACAGGGAGAAC	0.413																																					p.V739A		.											.	LONRF1-91	0			c.T2216C						.						130	136	134					8																	12580711		1954	4127	6081	SO:0001583	missense	91694	exon12			GGGTCTACAGGGA	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.2216T>C	8.37:g.12580711A>G	ENSP00000381298:p.Val739Ala	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	51	37	NM_152271	0	0	2	4	2	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245324	0.80024	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.96	4.96	0.65561	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.055580	0.64402	D	0.000001	T	0.50514	0.1620	L	0.32530	0.975	0.58432	D	0.999998	P;P	0.45957	0.841;0.869	P;P	0.59288	0.693;0.855	T	0.49542	-0.8929	10	0.48119	T	0.1	-18.2214	15.3451	0.74330	1.0:0.0:0.0:0.0	.	728;739	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	A	739;165;382;342	ENSP00000381298:V739A;ENSP00000436770:V165A;ENSP00000432130:V382A;ENSP00000433327:V342A	ENSP00000381298:V739A	V	-	2	0	LONRF1	12625082	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	8.831000	0.92068	2.157000	0.67596	0.533000	0.62120	GTA	.		0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		G	12580711	A	G	12580711	3	3	62	1	0	0	0	0	1	0	0	0	8929	391	14	4	109	4	LONRF1	8	12580711	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1391087	12580711	133783311	694	13062											
LZTS1	11178	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	20110358	20110358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgtaggacctgagctTggtctccagcaggtcctgct	11	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:20110358T>C	ENST00000381569.1	-	3	1441	c.1084A>G	c.(1084-1086)Aag>Gag	p.K362E	LZTS1_ENST00000265801.6_Missense_Mutation_p.K362E|LZTS1_ENST00000522290.1_Missense_Mutation_p.K362E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	362					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACCTGAGCTTGGTCTCCAGC	0.642																																					p.K362E		.											.	LZTS1-91	0			c.A1084G						.						33	34	34					8																	20110358		2203	4300	6503	SO:0001583	missense	11178	exon2			TGAGCTTGGTCTC	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1084A>G	8.37:g.20110358T>C	ENSP00000370981:p.Lys362Glu	Somatic	92	1		WXS	Illumina GAIIx	Phase_I	73	63	NM_021020	0	0	4	5	1	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645050	0.67358	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25579	2.11;2.11;1.79	5.45	5.45	0.79879	.	0.045716	0.85682	D	0.000000	T	0.42177	0.1191	M	0.74881	2.28	0.37082	D	0.899058	D;B	0.58620	0.983;0.022	P;B	0.56434	0.798;0.025	T	0.47368	-0.9123	10	0.12766	T	0.61	-43.7941	14.3373	0.66600	0.0:0.0:0.0:1.0	.	362;362	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	E	362	ENSP00000370981:K362E;ENSP00000265801:K362E;ENSP00000429263:K362E	ENSP00000265801:K362E	K	-	1	0	LZTS1	20154638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	2.068000	0.61886	0.459000	0.35465	AAG	.		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		C	20110358	T	C	20110358	3	2	62	1	0	0	0	0	1	0	0	0	9174	1821	63	4	714	4	LZTS1	8	20110358	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	7529647	20110358	126253664	695	13063											
NEFM	4741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	24775356	24775356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaatcaccagtggaagAgaaaggcaagtctcctgtgt	12	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:24775356A>G	ENST00000221166.5	+	3	2770	c.1988A>G	c.(1987-1989)gAg>gGg	p.E663G	NEFM_ENST00000433454.2_Missense_Mutation_p.E287G|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	663	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)		CCAGTGGAAGAGAAAGGCAAG	0.498																																					p.E663G		.											.	NEFM-577	0			c.A1988G						.						97	98	98					8																	24775356		2203	4300	6503	SO:0001583	missense	4741	exon3			TGGAAGAGAAAGG	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.1988A>G	8.37:g.24775356A>G	ENSP00000221166:p.Glu663Gly	Somatic	222	0		WXS	Illumina GAIIx	Phase_I	175	132	NM_005382	0	0	1	2	1	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	3.238	-0.156029	0.06544	.	.	ENSG00000104722	ENST00000221166;ENST00000433454	D;D	0.94232	-1.85;-3.38	3.1	-3.87	0.04218	.	.	.	.	.	T	0.81814	0.4902	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66524	-0.5902	9	0.42905	T	0.14	.	4.4003	0.11383	0.4372:0.3043:0.2585:0.0	.	663	P07197	NFM_HUMAN	G	663;287	ENSP00000221166:E663G;ENSP00000412295:E287G	ENSP00000221166:E663G	E	+	2	0	NEFM	24831261	0.129000	0.22400	0.006000	0.13384	0.302000	0.27658	2.406000	0.44557	-1.328000	0.02261	0.166000	0.16787	GAG	.		0.498	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		G	24775356	A	G	24775356	3	3	62	1	0	0	0	0	1	0	0	0	10355	304	11	4	1998	4	NEFM	8	24775356	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4664998	24775356	121588666	696	13064											
DOCK5	80005	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	25191625	25191625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcaggtatttattatttCactgataggagacatcaagt	9	5	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25191625C>T	ENST00000276440.7	+	21	2149	c.2105C>T	c.(2104-2106)tCa>tTa	p.S702L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	702					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTATTATTTCACTGATAGGA	0.388																																					p.S702L	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.C2105T						.						122	125	124					8																	25191625		2203	4300	6503	SO:0001583	missense	80005	exon21			TTATTTCACTGAT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2105C>T	8.37:g.25191625C>T	ENSP00000276440:p.Ser702Leu	Somatic	84	2		WXS	Illumina GAIIx	Phase_I	60	47	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715719	0.68844	.	.	ENSG00000147459	ENST00000276440	T	0.19105	2.17	6.04	6.04	0.98038	Armadillo-type fold (1);	0.066979	0.64402	D	0.000006	T	0.32852	0.0843	M	0.71036	2.16	0.51482	D	0.999929	B;B;B	0.29301	0.241;0.157;0.241	B;B;B	0.32533	0.096;0.065;0.147	T	0.05852	-1.0860	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	692;477;702	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	L	702	ENSP00000276440:S702L	ENSP00000276440:S702L	S	+	2	0	DOCK5	25247542	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	3.960000	0.56752	2.873000	0.98535	0.561000	0.74099	TCA	.		0.388	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25191625	C	T	25191625	3	4	62	1	0	0	0	0	1	0	0	0	4704	838	29	3	2187	3	DOCK5	8	25191625	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	416269	25191625	121172397	697	13065											
DOCK5	80005	ucsc.edu;bcgsc.ca	37	chr8	25261192	25261192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcctctgtggtttccaCctcttcaaactcgtctgaca	5	15	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25261192C>T	ENST00000276440.7	+	48	5089	c.5045C>T	c.(5044-5046)aCc>aTc	p.T1682I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1682					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTGGTTTCCACCTCTTCAAAC	0.512																																					p.T1682I	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.C5045T						.						202	163	177					8																	25261192		2203	4300	6503	SO:0001583	missense	80005	exon48			TTTCCACCTCTTC		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5045C>T	8.37:g.25261192C>T	ENSP00000276440:p.Thr1682Ile	Somatic	202	3		WXS	Illumina GAIIx	Phase_I	164	138	NM_024940	0	0	0	28	28	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464387	0.26335	.	.	ENSG00000147459	ENST00000276440	T	0.04015	3.73	5.81	3.06	0.35304	.	0.436525	0.26808	N	0.022383	T	0.04770	0.0129	L	0.44542	1.39	0.37122	D	0.900865	B	0.02656	0.0	B	0.06405	0.002	T	0.36672	-0.9738	10	0.28530	T	0.3	.	8.1064	0.30887	0.1221:0.6972:0.1174:0.0634	.	1682	Q9H7D0	DOCK5_HUMAN	I	1682	ENSP00000276440:T1682I	ENSP00000276440:T1682I	T	+	2	0	DOCK5	25317109	0.986000	0.35501	1.000000	0.80357	0.247000	0.25773	2.696000	0.47052	0.378000	0.24764	0.655000	0.94253	ACC	.		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25261192	C	T	25261192	3	4	62	1	0	0	0	0	1	0	0	0	4704	507	18	3	5235	3	DOCK5	8	25261192	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	69567	25261192	121102830	698	13066											
CDCA2	157313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	25364499	25364499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgacttcttaggagctGcagaaggaaaactgcaatgc	12	7	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25364499G>A	ENST00000330560.3	+	15	2794	c.2317G>A	c.(2317-2319)Gca>Aca	p.A773T	CDCA2_ENST00000380665.3_Missense_Mutation_p.A758T|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	773					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)		CTTAGGAGCTGCAGAAGGAAA	0.338																																					p.A773T		.											.	CDCA2-90	0			c.G2317A						.						45	45	45					8																	25364499		2202	4300	6502	SO:0001583	missense	157313	exon15			GGAGCTGCAGAAG	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.2317G>A	8.37:g.25364499G>A	ENSP00000328228:p.Ala773Thr	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	43	38	NM_152562	0	0	0	6	6	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132264	0.06753	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.28454	1.61;1.61	5.27	-8.74	0.00838	.	2.064090	0.01873	N	0.037351	T	0.10423	0.0255	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15780	-1.0425	10	0.30078	T	0.28	1.4083	4.3714	0.11249	0.1454:0.4707:0.272:0.1119	.	758;773	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	773;758;172	ENSP00000328228:A773T;ENSP00000370040:A758T	ENSP00000328228:A773T	A	+	1	0	CDCA2	25420416	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.106000	0.01338	-1.171000	0.02765	0.650000	0.86243	GCA	.		0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25364499	G	A	25364499	3	1	62	1	0	0	0	0	1	0	0	0	3093	1319	46	3	2371	3	CDCA2	8	25364499	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	103307	25364499	120999523	699	13067											
KIF13B	23303	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	28929234	28929234	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttgtgggcgcccacggtGacgaactcgccctctcggag	14	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:28929234G>A	ENST00000524189.1	-	39	5159	c.5121C>T	c.(5119-5121)gtC>gtT	p.V1707V	KIF13B_ENST00000404075.3_Silent_p.V226V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1707					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGCCCACGGTGACGAACTCGC	0.701																																					p.V1707V		.											.	KIF13B-22	0			c.C5121T						.						11	14	13					8																	28929234		1852	3816	5668	SO:0001819	synonymous_variant	23303	exon39			CACGGTGACGAAC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5121C>T	8.37:g.28929234G>A		Somatic	93	1		WXS	Illumina GAIIx	Phase_I	107	87	NM_015254	0	0	0	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																			.		0.701	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			A	28929234	G	A	28929234	2	1	62	1	0	0	0	0	0	0	0	1	8302	1277	45	3		3	KIF13B	8	28929234	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3564735	28929234	117434788	700	13068											
NRG1	3084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	32620757	32620757	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cataaccttatagctgagctAaggagaaacaaggcacacag	9	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:32620757A>T	ENST00000405005.3	+	12	1268				NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Silent_p.L430L			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAGCTGAGCTAAGGAGAAACA	0.368																																					p.L430L		.											.	NRG1-525	0			c.A1290T						.						166	151	156					8																	32620757		2203	4300	6503	SO:0001627	intron_variant	3084	exon12			TGAGCTAAGGAGA	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1269-509A>T	8.37:g.32620757A>T		Somatic	150	0		WXS	Illumina GAIIx	Phase_I	106	79	NM_013960	0	0	0	0	0	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	CCDS6085.1																																																																																			.		0.368	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			T	32620757	A	T	32620757	1	4	62	0	1	0	0	0	0	0	0	0	10686	349	13	5		5	NRG1	8	32620757	Intron	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3691523	32620757	113743265	701	13069											
GOT1L1	137362	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	37792696	37792696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcactttttccttggttaGcatgatgttctctacaactt	5	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:37792696G>A	ENST00000307599.4	-	8	1066	c.967C>T	c.(967-969)Cta>Tta	p.L323L	GOT1L1_ENST00000518826.1_Silent_p.L64L	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	323					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCTTGGTTAGCATGATGTTC	0.527																																					p.L323L		.											.	GOT1L1-23	0			c.C967T						.						82	79	80					8																	37792696		1885	4113	5998	SO:0001819	synonymous_variant	137362	exon8			TGGTTAGCATGAT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.967C>T	8.37:g.37792696G>A		Somatic	119	1		WXS	Illumina GAIIx	Phase_I	62	49	NM_152413	0	0	0	0	0	A8MWL4	Silent	SNP	ENST00000307599.4	37	CCDS47839.1																																																																																			.		0.527	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		A	37792696	G	A	37792696	2	1	62	1	0	0	0	0	0	0	0	1	6606	962	34	3		3	GOT1L1	8	37792696	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5171939	37792696	108571326	702	13070											
STAR	6770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	38003893	38003893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagcctctccatgggctggtCcaccacgacctccagccgga	11	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:38003893C>A	ENST00000276449.4	-	4	825	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	127	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGGGCTGGTCCACCACGACC	0.557																																					p.D127Y		.											.	STAR-91	0			c.G379T						.						94	87	89					8																	38003893		2203	4300	6503	SO:0001583	missense	6770	exon4			GCTGGTCCACCAC	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.379G>T	8.37:g.38003893C>A	ENSP00000276449:p.Asp127Tyr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	48	36	NM_000349	4	6	11	4774	4753	Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.263880|4.263880	0.80358|0.80358	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753;ENST00000521236|ENST00000522050	D;D|.	0.85339|.	-1.97;-1.97|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Lipid-binding START (3);START-like domain (1);|.	0.045491|.	0.85682|.	D|.	0.000000|.	T|T	0.79358|0.79358	0.4432|0.4432	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.50528|.	0.936;0.936|.	P;P|.	0.53912|.	0.737;0.737|.	T|T	0.81556|0.81556	-0.0879|-0.0879	10|5	0.46703|.	T|.	0.11|.	-27.9234|-27.9234	14.0901|14.0901	0.64984|0.64984	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	89;127|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	Y|C	127;89;45|105	ENSP00000276449:D127Y;ENSP00000430030:D45Y|.	ENSP00000276449:D127Y|.	D|W	-|-	1|3	0|0	STAR|STAR	38123050|38123050	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.919000|0.919000	0.55068|0.55068	5.774000|5.774000	0.68906|0.68906	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAC|TGG	.		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		A	38003893	C	A	38003893	3	1	62	1	0	0	0	0	1	0	0	0	15301	855	30	3	494	3	STAR	8	38003893	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	211197	38003893	108360129	703	13071											
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	41566384	41566384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggccaggtgaaggggcGtcacaccttgcaccgactcg	16	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:41566384G>A	ENST00000347528.4	-	17	1993	c.1910C>T	c.(1909-1911)aCg>aTg	p.T637M	ANK1_ENST00000396945.1_Missense_Mutation_p.T637M|ANK1_ENST00000289734.7_Missense_Mutation_p.T637M|ANK1_ENST00000396942.1_Missense_Mutation_p.T637M|ANK1_ENST00000265709.8_Missense_Mutation_p.T670M|ANK1_ENST00000379758.2_Missense_Mutation_p.T637M|ANK1_ENST00000352337.4_Missense_Mutation_p.T637M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	637	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)			GTGAAGGGGCGTCACACCTTG	0.622																																					p.T670M		.											.	ANK1-716	0			c.C2009T						.						111	97	102					8																	41566384		2203	4300	6503	SO:0001583	missense	286	exon17			AGGGGCGTCACAC	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.1910C>T	8.37:g.41566384G>A	ENSP00000339620:p.Thr637Met	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	65	47	NM_001142446	0	0	0	1	1	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674835	0.88445	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.95574	3.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.993;0.989;1.0	D	0.93038	0.6454	10	0.72032	D	0.01	.	19.6194	0.95649	0.0:0.0:1.0:0.0	.	670;637;637;637;637	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	M	637;637;637;637;637;637;670;637	ENSP00000339620:T637M;ENSP00000289734:T637M;ENSP00000369082:T637M;ENSP00000380149:T637M;ENSP00000380147:T637M;ENSP00000309131:T637M;ENSP00000265709:T670M	ENSP00000265709:T670M	T	-	2	0	ANK1	41685541	1.000000	0.71417	0.985000	0.45067	0.695000	0.40330	7.932000	0.87634	2.639000	0.89480	0.555000	0.69702	ACG	.		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41566384	G	A	41566384	3	1	62	1	0	0	0	0	1	0	0	0	620	1145	40	1	4193	1	ANK1	8	41566384	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3562491	41566384	104797638	704	13072											
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	48689404	48689404	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacatataaaaatcttaCcaagtaatgactgctggatt	5	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:48689404C>T	ENST00000523565.1	-	85	12238		c.e85+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)	AAAAATCTTACCAAGTAATGA	0.388								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			c.12088+1G>A						.						100	92	94					8																	48689404		1840	4082	5922	SO:0001630	splice_region_variant	5591	exon85			ATCTTACCAAGTA		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.1270+1G>A	8.37:g.48689404C>T		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	31	21	NM_001081640	0	0	0	1	1	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37		.	.	.	.	.	.	.	.	.	.	C	16.14	3.039989	0.55003	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.959	0.89079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48851957	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	7.437000	0.80417	2.749000	0.94314	0.460000	0.39030	.	.		0.388	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	T	48689404	C	T	48689404	5	4	62	1	0	0	0	0	0	0	1	0	12563	521	18	3	211	3	PRKDC	8	48689404	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7123020	48689404	97674618	705	13073											
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	53044610	53044610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtttgttcagtttccaGgagagggaggctccattgag	13	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:53044610G>A	ENST00000276480.7	-	22	3257	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	858					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCAGTTTCCAGGAGAGGGAGG	0.498																																					p.S858S		.											.	ST18-95	0			c.C2574T						.						150	132	138					8																	53044610		2203	4300	6503	SO:0001819	synonymous_variant	9705	exon22			TTTCCAGGAGAGG	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2574C>T	8.37:g.53044610G>A		Somatic	217	0		WXS	Illumina GAIIx	Phase_I	121	90	NM_014682	0	0	0	0	0	Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																			.		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53044610	G	A	53044610	2	1	62	1	0	0	0	0	0	0	0	1	15259	987	35	3		3	ST18	8	53044610	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4355206	53044610	93319412	706	13074											
RP1	6101	bcgsc.ca	37	chr8	55533938	55533938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccattagcgcgcactcaCcgccccaccccgtagccgtc	10	20	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:55533938C>T	ENST00000220676.1	+	2	560	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	138					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)			CGCGCACTCACCGCCCCACCC	0.697																																					p.P138S	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.C412T						.						27	33	31					8																	55533938		2190	4290	6480	SO:0001583	missense	6101	exon2			CACTCACCGCCCC	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.412C>T	8.37:g.55533938C>T	ENSP00000220676:p.Pro138Ser	Somatic	20	1		WXS	Illumina GAIIx	Phase_I	39	35	NM_006269	0	0	0	0	0		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779793	0.16120	.	.	ENSG00000104237	ENST00000220676	T	0.21734	1.99	4.67	3.78	0.43462	.	1.948300	0.02586	N	0.099426	T	0.16854	0.0405	L	0.31294	0.92	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.27468	-1.0073	10	0.16420	T	0.52	12.5193	6.8447	0.23982	0.3102:0.6013:0.0:0.0885	.	138	P56715	RP1_HUMAN	S	138	ENSP00000220676:P138S	ENSP00000220676:P138S	P	+	1	0	RP1	55696491	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.806000	0.27126	0.939000	0.37446	0.650000	0.86243	CCG	.		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55533938	C	T	55533938	3	4	62	1	0	0	0	0	1	0	0	0	13577	507	18	3	414	3	RP1	8	55533938	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2489328	55533938	90830084	707	13075											
IMPAD1	54928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	57905818	57905818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggttggacagcacgtcGccgctggtcatcttgtcctc	12	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:57905818G>A	ENST00000262644.4	-	1	585	c.327C>T	c.(325-327)ggC>ggT	p.G109G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	109					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ACAGCACGTCGCCGCTGGTCA	0.682																																					p.G109G		.											.	IMPAD1-91	0			c.C327T						.						70	60	64					8																	57905818		2202	4300	6502	SO:0001819	synonymous_variant	54928	exon1			CACGTCGCCGCTG		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.327C>T	8.37:g.57905818G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	29	21	NM_017813	0	0	2	32	30	Q6NVY7	Silent	SNP	ENST00000262644.4	37	CCDS6169.1																																																																																			.		0.682	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		A	57905818	G	A	57905818	2	1	62	1	0	0	0	0	0	0	0	1	7752	1074	38	1		1	IMPAD1	8	57905818	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2371880	57905818	88458204	708	13076											
SGK3	23678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	67755735	67755735	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccctatgacaatactgtaGattggtggtgccttggggct	13	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:67755735G>A	ENST00000396596.1	+	14	1241	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000522398.1_Missense_Mutation_p.D343N|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.D343N|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000521198.2_Missense_Mutation_p.D343N|SGK3_ENST00000345714.4_Missense_Mutation_p.D343N	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATACTGTAGATTGGTGGTG	0.333																																					p.D343N		.											.	SGK3-1003	0			c.G1027A						.						179	168	172					8																	67755735		2203	4300	6503	SO:0001583	missense	23678	exon14			ACTGTAGATTGGT		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1027G>A	8.37:g.67755735G>A	ENSP00000379842:p.Asp343Asn	Somatic	97	0		WXS	Illumina GAIIx	Phase_I	78	60	NM_001033578	0	0	0	7	7	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508319	0.96386	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000396596;ENST00000345714	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102733	0.64402	D	0.000004	D	0.85813	0.5784	H	0.99770	4.765	0.48087	D	0.999586	D	0.89917	1.0	D	0.91635	0.999	D	0.92693	0.6168	9	0.87932	D	0	.	18.5706	0.91133	0.0:0.0:1.0:0.0	.	343	Q96BR1	SGK3_HUMAN	N	343	ENSP00000429022:D343N;ENSP00000430463:D343N;ENSP00000430256:D343N;ENSP00000379842:D343N;ENSP00000331816:D343N	ENSP00000262211:D343N	D	+	1	0	SGK3	67918289	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	9.799000	0.99117	2.441000	0.82636	0.555000	0.69702	GAT	.		0.333	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			A	67755735	G	A	67755735	3	1	62	1	0	0	0	0	1	0	0	0	14257	942	33	3	1077	3	SGK3	8	67755735	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9849917	67755735	78608287	709	13077											
PRDM14	63978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	70981595	70981595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagcaaggtaataactgGgaggtcctcagcccctcagg	14	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:70981595G>A	ENST00000276594.2	-	2	702	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	167					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTAATAACTGGGAGGTCCTCA	0.577																																					p.S167S	NSCLC(129;99 1813 5906 40656 46114)	.											.	PRDM14-93	0			c.C501T						.						73	72	72					8																	70981595		2203	4300	6503	SO:0001819	synonymous_variant	63978	exon2			TAACTGGGAGGTC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.501C>T	8.37:g.70981595G>A		Somatic	194	0		WXS	Illumina GAIIx	Phase_I	140	114	NM_024504	0	0	0	0	0	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			.		0.577	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			A	70981595	G	A	70981595	2	1	62	1	0	0	0	0	0	0	0	1	12497	1219	43	3		3	PRDM14	8	70981595	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3225860	70981595	75382427	710	13078											
NCOA2	10499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	71057034	71057034	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgatgtcaagtggtaaattCtggtttggcaataacctgcc	11	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:71057034C>T	ENST00000452400.2	-	13	2836	c.2655G>A	c.(2653-2655)caG>caA	p.Q885Q	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	885					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)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																p.Q885Q		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2-639	0			c.G2655A						.						180	170	173					8																	71057034		1892	4108	6000	SO:0001819	synonymous_variant	10499	exon13			TAAATTCTGGTTT	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.2655G>A	8.37:g.71057034C>T		Somatic	212	1		WXS	Illumina GAIIx	Phase_I	116	91	NM_006540	0	0	1	9	8	Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1																																																																																			.		0.423	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			T	71057034	C	T	71057034	2	4	62	1	0	0	0	0	0	0	0	1	10268	912	32	3		3	NCOA2	8	71057034	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	75439	71057034	75306988	711	13079											
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	72977700	72977700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaccaaaatctgcaatgCttcgctattatttgtggtgc	7	9	1	0	rs567896348		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:72977700C>T	ENST00000262209.4	-	4	745	c.538G>A	c.(538-540)Gca>Aca	p.A180T		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	180					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATCTGCAATGCTTCGCTATTA	0.318													C|||	1	0.000199681	8e-04	0	5008	,	,		17356	0		0	False		,,,				2504	0				p.A180T		.											.	TRPA1-230	0			c.G538A						.						116	99	105					8																	72977700		2202	4298	6500	SO:0001583	missense	8989	exon4			GCAATGCTTCGCT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.538G>A	8.37:g.72977700C>T	ENSP00000262209:p.Ala180Thr	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	98	84	NM_007332	0	0	0	0	0	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696202	0.88830	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.65732	-0.17;-0.09	5.39	4.52	0.55395	Ankyrin repeat-containing domain (3);	0.095413	0.64402	D	0.000001	T	0.65059	0.2655	L	0.41356	1.27	0.51767	D	0.999938	D	0.54047	0.964	P	0.54431	0.752	T	0.65615	-0.6125	10	0.44086	T	0.13	-6.7089	14.2231	0.65841	0.0:0.9278:0.0:0.0722	.	180	O75762	TRPA1_HUMAN	T	32;180	ENSP00000428151:A32T;ENSP00000262209:A180T	ENSP00000262209:A180T	A	-	1	0	TRPA1	73140254	1.000000	0.71417	0.972000	0.41901	0.906000	0.53458	3.998000	0.57024	1.413000	0.46997	0.650000	0.86243	GCA	.		0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		T	72977700	C	T	72977700	3	4	62	1	0	0	0	0	1	0	0	0	16625	797	28	3	2917	3	TRPA1	8	72977700	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1920666	72977700	73386322	712	13080											
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	73848647	73848647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgatattttccagcctgGtattttttgctgagaaggat	9	5	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:73848647G>A	ENST00000523207.1	+	3	1645	c.1057G>A	c.(1057-1059)Gta>Ata	p.V353I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	353					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)	TTCCAGCCTGGTATTTTTTGC	0.468																																					p.V353I		.											.	KCNB2-158	0			c.G1057A						.						119	123	122					8																	73848647		2203	4300	6503	SO:0001583	missense	9312	exon3			AGCCTGGTATTTT	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.1057G>A	8.37:g.73848647G>A	ENSP00000430846:p.Val353Ile	Somatic	135	0		WXS	Illumina GAIIx	Phase_I	96	68	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824786	0.90955	.	.	ENSG00000182674	ENST00000523207	D	0.97303	-4.33	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.41097	D	0.000948	D	0.96568	0.8880	L	0.31526	0.94	0.58432	D	0.99999	P	0.49696	0.927	P	0.55667	0.781	D	0.96282	0.9207	10	0.41790	T	0.15	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	353	Q92953	KCNB2_HUMAN	I	353	ENSP00000430846:V353I	ENSP00000430846:V353I	V	+	1	0	KCNB2	74011201	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.869000	0.99810	2.626000	0.88956	0.655000	0.94253	GTA	.		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		A	73848647	G	A	73848647	3	1	62	1	0	0	0	0	1	0	0	0	8040	1261	44	3	1063	3	KCNB2	8	73848647	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	870947	73848647	72515375	713	13081											
WWP1	11059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	87443898	87443898	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattagatatactcgtgaAggtgtaaggtactttgttga	11	3	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:87443898A>C	ENST00000517970.1	+	14	1834	c.1527A>C	c.(1525-1527)gaA>gaC	p.E509D	WWP1_ENST00000341922.2_Missense_Mutation_p.E379D|WWP1_ENST00000265428.4_Missense_Mutation_p.E509D|WWP1_ENST00000349423.2_Missense_Mutation_p.E291D	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	509	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATACTCGTGAAGGTGTAAGGT	0.383																																					p.E509D		.											.	WWP1-659	0			c.A1527C						.						108	108	108					8																	87443898		2203	4300	6503	SO:0001583	missense	11059	exon14			TCGTGAAGGTGTA	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.1527A>C	8.37:g.87443898A>C	ENSP00000427793:p.Glu509Asp	Somatic	250	0		WXS	Illumina GAIIx	Phase_I	141	112	NM_007013	0	0	1	18	17	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946962	0.34377	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.35	2.9	0.33743	WW/Rsp5/WWP (6);	0.055725	0.64402	N	0.000001	T	0.54271	0.1848	N	0.05199	-0.095	0.51482	D	0.999924	B;B	0.12630	0.001;0.006	B;B	0.20184	0.008;0.028	T	0.46952	-0.9154	10	0.02654	T	1	.	7.0929	0.25293	0.7961:0.0:0.0722:0.1317	.	291;509	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	D	509;509;379;291	ENSP00000427793:E509D;ENSP00000265428:E509D;ENSP00000340564:E379D;ENSP00000342665:E291D	ENSP00000265428:E509D	E	+	3	2	WWP1	87513014	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.140000	0.42159	0.318000	0.23185	0.460000	0.39030	GAA	.		0.383	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87443898	A	C	87443898	3	2	62	1	0	0	0	0	1	0	0	0	17464	69	3	5	1573	5	WWP1	8	87443898	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	13595251	87443898	58920124	714	13082											
DCAF4L2	138009	broad.mit.edu;bcgsc.ca	37	chr8	88885852	88885852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacgtagagggttttgtgCgggtatacccggagctcagg	18	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:88885852C>T	ENST00000319675.3	-	1	444	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	116										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						GGGTTTTGTGCGGGTATACCC	0.552																																					p.P116P		.											.	DCAF4L2-91	0			c.G348A						.						128	124	125					8																	88885852		2203	4300	6503	SO:0001819	synonymous_variant	138009	exon1			TTTGTGCGGGTAT	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.348G>A	8.37:g.88885852C>T		Somatic	124	1		WXS	Illumina GAIIx	Phase_I	93	9	NM_152418	0	0	0	0	0		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																			.		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		T	88885852	C	T	88885852	2	4	62	1	0	0	0	0	0	0	0	1	4281	755	27	1		1	DCAF4L2	8	88885852	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1441954	88885852	57478170	715	13083											
OSGIN2	734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	90937358	90937358	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagactcaaatcttttAtctgattataccagctttcc	4	10	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:90937358A>G	ENST00000297438.2	+	6	1471	c.1116A>G	c.(1114-1116)ttA>ttG	p.L372L	OSGIN2_ENST00000451899.2_Silent_p.L416L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	372					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)			CAAATCTTTTATCTGATTATA	0.363																																					p.L416L		.											.	OSGIN2-68	0			c.A1248G						.						119	125	123					8																	90937358		2201	4300	6501	SO:0001819	synonymous_variant	734	exon6			TCTTTTATCTGAT	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.1116A>G	8.37:g.90937358A>G		Somatic	78	0		WXS	Illumina GAIIx	Phase_I	41	30	NM_001126111	0	0	2	9	7		Silent	SNP	ENST00000297438.2	37	CCDS6248.1																																																																																			.		0.363	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		G	90937358	A	G	90937358	2	3	62	1	0	0	0	0	0	0	0	1	11329	446	16	4		4	OSGIN2	8	90937358	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2051506	90937358	55426664	716	13084											
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	93023263	93023263	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacaaaaggtctcagtggGaagttagtagcttcttgcag	12	6	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:93023263G>A	ENST00000523629.1	-	5	979	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RUNX1T1_ENST00000422361.2_Silent_p.F138F|RUNX1T1_ENST00000265814.3_Silent_p.F175F|RUNX1T1_ENST00000396218.1_Silent_p.F148F|RUNX1T1_ENST00000436581.2_Silent_p.F186F|RUNX1T1_ENST00000521553.1_Silent_p.F138F|RUNX1T1_ENST00000360348.2_Silent_p.F138F|RUNX1T1_ENST00000520724.1_Silent_p.F138F|RUNX1T1_ENST00000518844.1_Silent_p.F148F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	175	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTCAGTGGGAAGTTAGTAG	0.358																																					p.F234F		.											.	RUNX1T1-1196	0			c.C702T						.						141	137	139					8																	93023263		2203	4300	6503	SO:0001819	synonymous_variant	862	exon5			CAGTGGGAAGTTA	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.525C>T	8.37:g.93023263G>A		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	62	42	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.358	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		A	93023263	G	A	93023263	2	1	62	1	0	0	0	0	0	0	0	1	13792	1165	41	3		3	RUNX1T1	8	93023263	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2085905	93023263	53340759	717	13085											
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	93029539	93029539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagtcagcctagattgCgtcttcacatccacaggtga	12	10	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:93029539C>T	ENST00000523629.1	-	3	595	c.141G>A	c.(139-141)acG>acA	p.T47T	RUNX1T1_ENST00000422361.2_Silent_p.T10T|RUNX1T1_ENST00000265814.3_Silent_p.T47T|RUNX1T1_ENST00000396218.1_Silent_p.T20T|RUNX1T1_ENST00000436581.2_Silent_p.T58T|RUNX1T1_ENST00000521553.1_Silent_p.T10T|RUNX1T1_ENST00000360348.2_Silent_p.T10T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000520724.1_Silent_p.T10T|RUNX1T1_ENST00000518844.1_Silent_p.T20T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	47					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTAGATTGCGTCTTCACAT	0.478																																					p.T106T		.											.	RUNX1T1-1196	0			c.G318A						.						191	153	166					8																	93029539		2203	4300	6503	SO:0001819	synonymous_variant	862	exon3			AGATTGCGTCTTC	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.141G>A	8.37:g.93029539C>T		Somatic	143	1		WXS	Illumina GAIIx	Phase_I	107	79	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.478	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		T	93029539	C	T	93029539	2	4	62	1	0	0	0	0	0	0	0	1	13792	755	27	1		1	RUNX1T1	8	93029539	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6276	93029539	53334483	718	13086											
RNF19A	25897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	101299882	101299882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtacattctgggcaactaAtattaactctgctttcagag	7	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:101299882A>G	ENST00000519449.1	-	3	837	c.521T>C	c.(520-522)aTt>aCt	p.I174T	RNF19A_ENST00000341084.2_Missense_Mutation_p.I174T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	174					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGGGCAACTAATATTAACTCT	0.338																																					p.I174T		.											.	RNF19A-229	0			c.T521C						.						113	118	116					8																	101299882		2203	4300	6503	SO:0001583	missense	25897	exon3			CAACTAATATTAA	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.521T>C	8.37:g.101299882A>G	ENSP00000428968:p.Ile174Thr	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	50	42	NM_015435	0	0	1	9	8	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245390	0.80024	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.87029	-2.2;-2.2	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	D	0.95700	0.8748	10	0.87932	D	0	.	15.4136	0.74945	1.0:0.0:0.0:0.0	.	174	Q9NV58	RN19A_HUMAN	T	174	ENSP00000428968:I174T;ENSP00000342667:I174T	ENSP00000342667:I174T	I	-	2	0	RNF19A	101369058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.107000	0.64212	0.528000	0.53228	ATT	.		0.338	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		G	101299882	A	G	101299882	3	3	62	1	0	0	0	0	1	0	0	0	13515	101	4	4	2031	4	RNF19A	8	101299882	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	8270343	101299882	45064140	719	13087											
PKHD1L1	93035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110457219	110457219	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagttctatcagtgaattaTacggccattgaatgtgaaac	8	6	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:110457219T>A	ENST00000378402.5	+	38	5225	c.5121T>A	c.(5119-5121)taT>taA	p.Y1707*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1707	IPT/TIG 9.				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)			CAGTGAATTATACGGCCATTG	0.463										HNSCC(38;0.096)																											p.Y1707X		.											.	PKHD1L1-145	0			c.T5121A						.						196	188	190					8																	110457219		1890	4119	6009	SO:0001587	stop_gained	93035	exon38			GAATTATACGGCC	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.5121T>A	8.37:g.110457219T>A	ENSP00000367655:p.Tyr1707*	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	80	56	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	40	8.324177	0.98759	.	.	ENSG00000205038	ENST00000378402	.	.	.	6.17	-11.8	0.00035	.	0.068202	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	25.3074	0.99993	0.0:0.8378:0.0:0.1622	.	.	.	.	X	1707	.	ENSP00000367655:Y1707X	Y	+	3	2	PKHD1L1	110526395	0.038000	0.19896	0.186000	0.23195	0.138000	0.21146	-1.246000	0.02896	-2.238000	0.00712	-0.256000	0.11100	TAT	.		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110457219	T	A	110457219	4	1	62	1	0	0	0	0	0	1	0	0	12011	1413	49	5	5271	5	PKHD1L1	8	110457219	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	9157337	110457219	35906803	720	13088											
CSMD3	114788	ucsc.edu	37	chr8	113418864	113418864	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggattacaatcaaaaagaaCcgatgaaccgactgcaaatt	7	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:113418864C>G	ENST00000297405.5	-	35	5942	c.5698G>C	c.(5698-5700)Gtt>Ctt	p.V1900L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V1830L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1860L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V1796L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1900	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAAAAAGAACCGATGAACCG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V1900L		.											.	CSMD3-1132	0			c.G5698C						.						123	117	119					8																	113418864		2203	4300	6503	SO:0001583	missense	114788	exon35			AAAGAACCGATGA	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.5698G>C	8.37:g.113418864C>G	ENSP00000297405:p.Val1900Leu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	42	4	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241511	0.79912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.91	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	0.084158	0.47455	D	0.000222	T	0.79656	0.4483	M	0.78223	2.4	0.40487	D	0.980504	P;D;D	0.56746	0.92;0.977;0.969	P;D;D	0.74348	0.615;0.983;0.918	T	0.80777	-0.1231	10	0.56958	D	0.05	.	11.6084	0.51045	0.0:0.8535:0.0:0.1465	.	1796;1900;1860	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	1860;1900;1170;1796;1830	ENSP00000345799:V1860L;ENSP00000297405:V1900L;ENSP00000341558:V1170L;ENSP00000412263:V1796L;ENSP00000343124:V1830L	ENSP00000297405:V1900L	V	-	1	0	CSMD3	113488040	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	5.862000	0.69560	0.773000	0.33404	0.655000	0.94253	GTT	.		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113418864	C	G	113418864	3	3	62	1	0	0	0	0	1	0	0	0	3955	507	18	3	5573	3	CSMD3	8	113418864	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2961645	113418864	32945158	721	13089											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	114110996	114110996	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttacttaccatatggtaggTggctcagaaccttctatttc	7	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:114110996T>A	ENST00000297405.5	-	5	1150	c.906A>T	c.(904-906)ccA>ccT	p.P302P	CSMD3_ENST00000352409.3_Silent_p.P302P|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Silent_p.P262P|CSMD3_ENST00000455883.2_Silent_p.P302P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	302	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATGGTAGGTGGCTCAGAAC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P302P		.											.	CSMD3-1132	0			c.A906T						.						93	94	94					8																	114110996		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon5			GGTAGGTGGCTCA	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.906A>T	8.37:g.114110996T>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	60	49	NM_052900	0	0	0	0	0	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			.		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	114110996	T	A	114110996	2	1	62	1	0	0	0	0	0	0	0	1	3955	1683	59	5		5	CSMD3	8	114110996	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	692132	114110996	32253026	722	13090											
KIAA0196	9897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	126067843	126067843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactgttaccttgatgatgCcaaccaaagtcgttttcatc	6	10	1	2	rs397515564		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:126067843C>A	ENST00000318410.7	-	17	2436	c.2087G>T	c.(2086-2088)gGc>gTc	p.G696V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.G548V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	696			G -> A (in SPG8). {ECO:0000269|PubMed:23455931}.		cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGATGATGCCAACCAAAGT	0.388																																					p.G696V		.											.	KIAA0196-92	0			c.G2087T						.						142	135	137					8																	126067843		2203	4300	6503	SO:0001583	missense	9897	exon17			ATGATGCCAACCA		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2087G>T	8.37:g.126067843C>A	ENSP00000318016:p.Gly696Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	47	37	NM_014846	0	0	0	0	0	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.004265|4.004265	0.74932|0.74932	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.96587	.|-4.06;-4.06	5.1|5.1	4.22|4.22	0.49857|0.49857	.|.	.|0.094116	.|0.64402	.|N	.|0.000001	D|D	0.98242|0.98242	0.9418|0.9418	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.006	.|D;B	.|0.97110	.|1.0;0.019	D|D	0.99035|0.99035	1.0822|1.0822	5|10	.|0.87932	.|D	.|0	-15.6193|-15.6193	14.9039|14.9039	0.70703|0.70703	0.1445:0.8555:0.0:0.0|0.1445:0.8555:0.0:0.0	.|.	.|548;696	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	S|V	313|696;548	.|ENSP00000318016:G696V;ENSP00000429676:G548V	.|ENSP00000318016:G696V	A|G	-|-	1|2	0|0	KIAA0196|KIAA0196	126137025|126137025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.811000|7.811000	0.86092|0.86092	1.118000|1.118000	0.41863|0.41863	-0.182000|-0.182000	0.12963|0.12963	GCA|GGC	.		0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		A	126067843	C	A	126067843	3	1	62	1	0	0	0	0	1	0	0	0	8188	739	26	3	1444	3	KIAA0196	8	126067843	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	11956847	126067843	20296179	723	13091											
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133900673	133900673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctggcagatcttaaatgGccaactcagccaatacccgg	8	13	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:133900673G>A	ENST00000220616.4	+	10	2661	c.2621G>A	c.(2620-2622)gGc>gAc	p.G874D	TG_ENST00000377869.1_Missense_Mutation_p.G874D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	874	Thyroglobulin type-1 7. {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)		ATCTTAAATGGCCAACTCAGC	0.542																																					p.G874D		.											.	TG-145	0			c.G2621A						.						48	49	49					8																	133900673		2203	4300	6503	SO:0001583	missense	7038	exon10			TAAATGGCCAACT	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.2621G>A	8.37:g.133900673G>A	ENSP00000220616:p.Gly874Asp	Somatic	128	0		WXS	Illumina GAIIx	Phase_I	100	80	NM_003235	0	0	0	1	1	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	9.881	1.201571	0.22121	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.64085	-0.08;-0.07	5.78	4.91	0.64330	Thyroglobulin type-1 (2);	0.172300	0.41396	D	0.000881	T	0.57095	0.2030	M	0.69823	2.125	0.25390	N	0.988539	B	0.33549	0.417	B	0.28638	0.092	T	0.54689	-0.8256	10	0.40728	T	0.16	.	10.1549	0.42816	0.1673:0.0:0.8327:0.0	.	874	P01266	THYG_HUMAN	D	874	ENSP00000367100:G874D;ENSP00000220616:G874D	ENSP00000220616:G874D	G	+	2	0	TG	133969855	0.993000	0.37304	0.966000	0.40874	0.035000	0.12851	3.035000	0.49759	1.441000	0.47550	0.637000	0.83480	GGC	.		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133900673	G	A	133900673	3	1	62	1	0	0	0	0	1	0	0	0	15860	1203	42	3	2659	3	TG	8	133900673	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	7832830	133900673	12463349	724	13092											
SLA	6503	broad.mit.edu;bcgsc.ca	37	chr8	134060153	134060153	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcagctcctcggccttgtCtctgcccaggccctcaaaca	8	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:134060153C>G	ENST00000338087.5	-	6	1093	c.274G>C	c.(274-276)Gac>Cac	p.D92H	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D109H|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000395352.3_Missense_Mutation_p.D109H|SLA_ENST00000518565.1_5'Flank|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.D132H	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TCGGCCTTGTCTCTGCCCAGG	0.592																																					p.D132H		.											.	SLA-279	0			c.G394C						.						52	52	52					8																	134060153		2203	4300	6503	SO:0001583	missense	6503	exon4			CCTTGTCTCTGCC		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.274G>C	8.37:g.134060153C>G	ENSP00000337548:p.Asp92His	Somatic	75	2		WXS	Illumina GAIIx	Phase_I	57	45	NM_006748	0	0	2	2	0	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995675	0.74703	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.6	5.6	0.85130	SH2 motif (5);	0.142143	0.64402	D	0.000005	D	0.90061	0.6896	N	0.17723	0.515	0.39395	D	0.966488	D;D;D;P;D	0.71674	0.998;0.991;0.991;0.916;0.991	D;P;P;P;P	0.68353	0.957;0.823;0.823;0.726;0.823	D	0.91646	0.5331	10	0.66056	D	0.02	-43.6973	17.4647	0.87629	0.0:1.0:0.0:0.0	.	109;92;92;92;92	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	H	92;132;109;109;92	ENSP00000337548:D92H;ENSP00000394049:D132H;ENSP00000378759:D109H;ENSP00000428559:D109H;ENSP00000430596:D92H	ENSP00000337548:D92H	D	-	1	0	SLA	134129335	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	3.494000	0.53273	2.793000	0.96121	0.563000	0.77884	GAC	.		0.592	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			G	134060153	C	G	134060153	3	3	62	1	0	0	0	0	1	0	0	0	14408	913	32	3	572	3	SLA	8	134060153	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	159480	134060153	12303869	725	13093											
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	134146920	134146920	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcccctctgtttcagAtggagccaagggcgggcagt	13	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:134146920A>G	ENST00000220616.4	+	48	8229	c.8189A>G	c.(8188-8190)gAt>gGt	p.D2730G	TG_ENST00000377869.1_Splice_Site_p.D2673G|TG_ENST00000542445.1_Splice_Site_p.D1100G|TG_ENST00000519543.1_Splice_Site_p.D863G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2730					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)		TCTGTTTCAGATGGAGCCAAG	0.557																																					p.D2730G		.											.	TG-145	0			c.A8189G						.						82	73	76					8																	134146920		2203	4300	6503	SO:0001630	splice_region_variant	7038	exon48			TTTCAGATGGAGC	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.8189-1A>G	8.37:g.134146920A>G		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	46	31	NM_003235	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	5.096	0.203381	0.09704	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.69435	-0.19;-0.19;-0.39;-0.4;0.7	4.39	-0.769	0.11009	.	0.917541	0.09221	N	0.831957	T	0.39835	0.1093	N	0.11201	0.11	0.23773	N	0.996885	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.18398	-1.0338	9	.	.	.	.	4.3376	0.11094	0.3932:0.398:0.2088:0.0	.	863;1100;2730	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2673;1536;2730;849;1100;863;134	ENSP00000367100:D2673G;ENSP00000220616:D2730G;ENSP00000441693:D1100G;ENSP00000430430:D863G;ENSP00000430161:D134G	.	D	+	2	0	TG	134216102	0.923000	0.31300	0.328000	0.25416	0.153000	0.21895	-0.100000	0.10990	0.003000	0.14656	0.402000	0.26972	GAT	.		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation	G	134146920	A	G	134146920	5	3	62	1	0	0	0	0	0	0	1	0	15860	347	12	4	8379	4	TG	8	134146920	Splice_Site	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	86767	134146920	12217102	726	13094											
ZFAT	57623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	135621018	135621018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtctgctgaatggcgtAttcctggtagcctctccgag	13	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:135621018A>G	ENST00000377838.3	-	5	913	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	ZFAT_ENST00000520727.1_Missense_Mutation_p.Y235H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Y235H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Y235H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Y235H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Y185H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	247					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAATGGCGTATTCCTGGTAG	0.502																																					p.Y247H		.											.	ZFAT-90	0			c.T739C						.						122	118	119					8																	135621018		1955	4149	6104	SO:0001583	missense	57623	exon5			TGGCGTATTCCTG	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.739T>C	8.37:g.135621018A>G	ENSP00000367069:p.Tyr247His	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	119	99	NM_020863	0	0	0	3	3	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704925	0.88924	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.62788	2.96;2.88;2.9;2.88;2.88;2.96;-0.0	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	L	0.29908	0.895	0.53688	D	0.999973	P;D;D;D	0.89917	0.92;0.999;1.0;0.999	P;D;D;D	0.91635	0.741;0.996;0.999;0.996	T	0.72200	-0.4362	10	0.54805	T	0.06	-26.6284	15.579	0.76418	1.0:0.0:0.0:0.0	.	185;235;235;247	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	235;235;235;247;235;235;185;235;185	ENSP00000427879:Y235H;ENSP00000427831:Y235H;ENSP00000394501:Y235H;ENSP00000367069:Y247H;ENSP00000428483:Y235H;ENSP00000429091:Y185H;ENSP00000429983:Y185H	ENSP00000326997:Y235H	Y	-	1	0	ZFAT	135690200	1.000000	0.71417	0.858000	0.33744	0.972000	0.66771	6.974000	0.76122	2.279000	0.76181	0.459000	0.35465	TAC	.		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135621018	A	G	135621018	3	3	62	1	0	0	0	0	1	0	0	0	17680	449	16	4	3040	4	ZFAT	8	135621018	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1474098	135621018	10743004	727	13095											
PTK2	5747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	141749130	141749130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaccaaacatccatacGtcactagctgaggtaaaacg	6	12	2	1	rs370124116		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:141749130G>A	ENST00000522684.1	-	21	2041	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	PTK2_ENST00000395218.2_Silent_p.D604D|PTK2_ENST00000517887.1_Silent_p.D648D|PTK2_ENST00000519465.1_Silent_p.D232D|PTK2_ENST00000340930.3_Silent_p.D604D|PTK2_ENST00000519419.1_Silent_p.D648D|PTK2_ENST00000535192.1_Silent_p.D604D|PTK2_ENST00000538769.1_Silent_p.D272D|PTK2_ENST00000521059.1_Silent_p.D604D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ACATCCATACGTCACTAGCTG	0.284																																					p.D626D		.											.	PTK2-1517	0			c.C1878T						.	G	,,	0,4406		0,0,2203	61	60	60		1812,1878,1812	-3	0.6	8		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTK2	NM_001199649.1,NM_005607.4,NM_153831.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	604/1066,626/1075,604/1053	141749130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5747	exon21			CCATACGTCACTA	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.1812C>T	8.37:g.141749130G>A		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	30	20	NM_005607	0	0	7	61	54	B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	6.059	0.379226	0.11466	0.0	1.16E-4	ENSG00000169398	ENST00000519654	.	.	.	5.07	-2.98	0.05513	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56601	-0.7952	4	.	.	.	.	12.24	0.54536	0.1672:0.1224:0.7104:0.0	.	.	.	.	C	615	.	.	R	-	1	0	PTK2	141818312	0.535000	0.26370	0.609000	0.28983	0.774000	0.43823	-0.006000	0.12833	-0.567000	0.06046	-0.165000	0.13383	CGT	.		0.284	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		A	141749130	G	A	141749130	2	1	62	1	0	0	0	0	0	0	0	1	12805	1136	40	1		1	PTK2	8	141749130	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6128112	141749130	4614892	728	13096											
FLJ43860	389690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	142517208	142517208	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgacgacactctacccgtCggggtgcagctgtatggcct	13	13	1	1	rs139067780	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:142517208C>T	ENST00000430863.1	-	0	122					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTCTACCCGTCGGGGTGCAGC	0.622													C|||	7	0.00139776	0.0053	0	5008	,	,		18660	0		0	False		,,,				2504	0				.		.											.	.	0			.						.	C		11,4157		0,11,2073	85	91	89		42	-0.7	0	8	dbSNP_134	89	2,8410		0,2,4204	no	coding-synonymous	FLJ43860	NM_207414.2		0,13,6277	TT,TC,CC		0.0238,0.2639,0.1033		14/1319	142517208	13,12567	2084	4206	6290			389690	.			ACCCGTCGGGGTG			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517208C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	53	39	.	0	0	0	0	0		RNA	SNP	ENST00000430863.1	37																																																																																				C|0.999;T|0.001		0.622	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		T	142517208	C	T	142517208	1	4	62	0	1	0	0	0	0	0	0	0	5952	871	31	1		1	FLJ43860	8	142517208	RNA	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	768078	142517208	3846814	729	13097											
KIFC2	90990	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	145697998	145697998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaccgggccaccgccgcCaccgccatgaaccagcgcag	11	19	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:145697998C>T	ENST00000301332.2	+	16	2147	c.1770C>T	c.(1768-1770)gcC>gcT	p.A590A	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	590	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCACCGCCGCCACCGCCATGA	0.721																																					p.A590A		.											.	KIFC2-92	0			c.C1770T						.						13	18	16					8																	145697998		2164	4229	6393	SO:0001819	synonymous_variant	90990	exon16			CGCCGCCACCGCC	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1770C>T	8.37:g.145697998C>T		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	29	17	NM_145754	0	0	0	6	6	E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	CCDS6427.1																																																																																			.		0.721	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		T	145697998	C	T	145697998	2	4	62	1	0	0	0	0	0	0	0	1	8340	581	21	3		3	KIFC2	8	145697998	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3180790	145697998	666024	730	13098											
FOXH1	8928	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	145699949	145699949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccaggaactgcggtgCcctgcagtaagtggagaggc	15	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:145699949C>T	ENST00000377317.4	-	3	1348	c.770G>A	c.(769-771)gGc>gAc	p.G257D	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	257					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AACTGCGGTGCCCTGCAGTAA	0.672																																					p.G257D		.											.	FOXH1-226	0			c.G770A						.						18	19	19					8																	145699949		2197	4296	6493	SO:0001583	missense	8928	exon3			GCGGTGCCCTGCA	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.770G>A	8.37:g.145699949C>T	ENSP00000366534:p.Gly257Asp	Somatic	64	1		WXS	Illumina GAIIx	Phase_I	37	32	NM_003923	0	0	0	0	0	D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	C	0.753	-0.771968	0.02951	.	.	ENSG00000160973	ENST00000377317	D	0.95518	-3.73	4.91	0.394	0.16299	.	0.896603	0.09539	N	0.788540	D	0.88647	0.6493	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.74383	-0.3683	10	0.10636	T	0.68	-16.4293	4.4369	0.11555	0.0:0.3957:0.1647:0.4395	.	257	O75593	FOXH1_HUMAN	D	257	ENSP00000366534:G257D	ENSP00000366534:G257D	G	-	2	0	FOXH1	145670757	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.049000	0.11924	-0.117000	0.11872	-0.469000	0.05056	GGC	.		0.672	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			T	145699949	C	T	145699949	3	4	62	1	0	0	0	0	1	0	0	0	6032	739	26	3	331	3	FOXH1	8	145699949	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1951	145699949	664073	731	13099											
ZNF517	340385	broad.mit.edu;bcgsc.ca	37	chr8	146032798	146032798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagggttctgcaggaagAcctgggccggcctgtgggga	17	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:146032798A>G	ENST00000531720.1	+	4	542	c.497A>G	c.(496-498)gAc>gGc	p.D166G	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.D166G|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CTGCAGGAAGACCTGGGCCGG	0.667																																					p.D166G		.											.	ZNF517-90	0			c.A497G						.						12	14	13					8																	146032798		2171	4251	6422	SO:0001583	missense	340385	exon5			AGGAAGACCTGGG	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.497A>G	8.37:g.146032798A>G	ENSP00000436103:p.Asp166Gly	Somatic	75	2		WXS	Illumina GAIIx	Phase_I	46	33	NM_213605	0	0	0	1	1		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.178|5.178	0.218363|0.218363	0.09810|0.09810	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05580|.	3.42;3.42|.	2.2|2.2	-0.573|-0.573	0.11742|0.11742	.|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29027|0.29027	-1.0025|-1.0025	9|5	0.28530|.	T|.	0.3|.	.|.	5.5658|5.5658	0.17170|0.17170	0.695:0.0:0.305:0.0|0.695:0.0:0.305:0.0	.|.	166|.	Q6ZMY9|.	ZN517_HUMAN|.	G|A	166|133	ENSP00000353058:D166G;ENSP00000436103:D166G|.	ENSP00000353058:D166G|.	D|T	+|+	2|1	0|0	ZNF517|ZNF517	146003602|146003602	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-1.705000|-1.705000	0.01896|0.01896	-0.268000|-0.268000	0.09312|0.09312	0.374000|0.374000	0.22700|0.22700	GAC|ACC	.		0.667	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		G	146032798	A	G	146032798	3	3	62	1	0	0	0	0	1	0	0	0	18009	275	10	4	511	4	ZNF517	8	146032798	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	332849	146032798	331224	732	13100											
ZNF517	340385	hgsc.bcm.edu	37	chr8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggacggcggcgTggggcagggcgccctgctcg	21	13	0	0	rs2976653	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1	1	5008	,	,		12856	1		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3	5	4		1046	-0.8	0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	8	8	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033347	T	C	146033347	3	2	62	1	0	0	0	0	1	0	0	0	18009	1696	59	4	1060	4	ZNF517	8	146033347	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	549	146033347	330675	733	13101											
KDM4C	23081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	7049096	7049096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctttcctgtaggtggGcccatgtcatgtgcgccgtt	12	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:7049096G>C	ENST00000381309.3	+	17	2885	c.2320G>C	c.(2320-2322)Gcc>Ccc	p.A774P	KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.A519P|KDM4C_ENST00000543771.1_Missense_Mutation_p.A774P|KDM4C_ENST00000428870.2_Missense_Mutation_p.A461P|KDM4C_ENST00000381306.3_Missense_Mutation_p.A774P|KDM4C_ENST00000535193.1_Missense_Mutation_p.A796P	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	774					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						CTGTAGGTGGGCCCATGTCAT	0.428																																					p.A796P		.											.	KDM4C-228	0			c.G2386C						.						85	87	86					9																	7049096		2203	4300	6503	SO:0001583	missense	23081	exon17			AGGTGGGCCCATG	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.2320G>C	9.37:g.7049096G>C	ENSP00000370710:p.Ala774Pro	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	69	22	NM_001146696	0	0	0	0	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890279	0.91889	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.77	5.77	0.91146	.	0.051524	0.85682	D	0.000000	T	0.55862	0.1947	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.77557	0.985;0.962;0.988;0.99;0.983	T	0.65001	-0.6274	10	0.62326	D	0.03	-24.8699	20.3626	0.98863	0.0:0.0:1.0:0.0	.	519;774;796;774;774	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	P	796;774;774;774;519;461;118	ENSP00000442382:A796P;ENSP00000445427:A774P;ENSP00000370710:A774P;ENSP00000370707:A774P;ENSP00000409353:A519P;ENSP00000405739:A461P;ENSP00000400127:A118P	ENSP00000370707:A774P	A	+	1	0	KDM4C	7039096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.899000	0.87370	2.885000	0.99019	0.655000	0.94253	GCC	.		0.428	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		C	7049096	G	C	7049096	3	2	62	1	0	0	0	0	1	0	0	0	8157	1203	42	3	2452	3	KDM4C	9	7049096	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		7049096	134164335	734	13102											
KDM4C	23081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	7049109	7049109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtgggcccatgtcatgtGcgccgttgcggtcccagaag	15	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:7049109G>T	ENST00000381309.3	+	17	2898	c.2333G>T	c.(2332-2334)tGc>tTc	p.C778F	KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.C523F|KDM4C_ENST00000543771.1_Missense_Mutation_p.C778F|KDM4C_ENST00000428870.2_Missense_Mutation_p.C465F|KDM4C_ENST00000381306.3_Missense_Mutation_p.C778F|KDM4C_ENST00000535193.1_Missense_Mutation_p.C800F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	778					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						CATGTCATGTGCGCCGTTGCG	0.438																																					p.C800F		.											.	KDM4C-228	0			c.G2399T						.						93	93	93					9																	7049109		2203	4300	6503	SO:0001583	missense	23081	exon17			TCATGTGCGCCGT	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.2333G>T	9.37:g.7049109G>T	ENSP00000370710:p.Cys778Phe	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	84	31	NM_001146696	0	0	13	13	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276461	0.80580	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	H	0.98833	4.345	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;0.999;1.0;1.0;0.999	D	0.89206	0.3561	10	0.87932	D	0	-30.9319	20.3626	0.98863	0.0:0.0:1.0:0.0	.	523;778;800;778;778	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	F	800;778;778;778;523;465;122	ENSP00000442382:C800F;ENSP00000445427:C778F;ENSP00000370710:C778F;ENSP00000370707:C778F;ENSP00000409353:C523F;ENSP00000405739:C465F;ENSP00000400127:C122F	ENSP00000370707:C778F	C	+	2	0	KDM4C	7039109	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	7.899000	0.87370	2.885000	0.99019	0.655000	0.94253	TGC	.		0.438	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	7049109	G	T	7049109	3	4	62	1	0	0	0	0	1	0	0	0	8157	1319	46	3	2465	3	KDM4C	9	7049109	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	13	7049109	134164322	735	13103											
FREM1	158326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	14776240	14776240	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttcagcatggattcTtgtgtcaccatctactggaa	9	11	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:14776240T>C	ENST00000380880.3	-	25	5226				FREM1_ENST00000380894.1_Silent_p.Q4Q|FREM1_ENST00000380881.4_Intron|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000422223.2_Intron			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGGATTCTTGTGTCACCA	0.453																																					p.Q4Q		.											.	FREM1-138	0			c.A12G						.						24	26	25					9																	14776240		2013	4171	6184	SO:0001627	intron_variant	158326	exon2			GGATTCTTGTGTC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4443-39A>G	9.37:g.14776240T>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	146	63	NM_001177704	0	0	0	0	0	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			.		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14776240	T	C	14776240	1	2	62	0	1	0	0	0	0	0	0	0	6068	1606	56	4		4	FREM1	9	14776240	Intron	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	7727131	14776240	126437191	736	13104											
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	16436339	16436339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctcatgggtggccAtcatcactgctggcactact	11	13	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:16436339A>T	ENST00000380672.4	-	6	1910	c.1853T>A	c.(1852-1854)aTg>aAg	p.M618K	BNC2_ENST00000380667.2_Missense_Mutation_p.M551K|BNC2_ENST00000380666.2_Missense_Mutation_p.M618K|BNC2_ENST00000545497.1_Missense_Mutation_p.M523K	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)		ATGGGTGGCCATCATCACTGC	0.557																																					p.M618K		.											.	BNC2-92	0			c.T1853A						.						77	77	77					9																	16436339		2203	4300	6503	SO:0001583	missense	54796	exon6			GTGGCCATCATCA	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.1853T>A	9.37:g.16436339A>T	ENSP00000370047:p.Met618Lys	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	74	39	NM_017637	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300197	0.23650	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.45276	1.53;0.9;1.52;1.55;1.54;1.51	6.17	6.17	0.99709	.	0.238346	0.52532	D	0.000079	T	0.32852	0.0843	L	0.36672	1.1	0.58432	D	0.999993	B;B;B;B;B;B;B;B;B	0.19817	0.004;0.023;0.004;0.016;0.039;0.009;0.003;0.01;0.009	B;B;B;B;B;B;B;B;B	0.20384	0.018;0.009;0.018;0.029;0.02;0.009;0.004;0.019;0.009	T	0.17930	-1.0353	10	0.05833	T	0.94	-5.7508	16.8222	0.85835	1.0:0.0:0.0:0.0	.	523;551;618;444;618;575;618;523;383	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	618;11;575;551;523;444;618;618	ENSP00000370047:M618K;ENSP00000392212:M11K;ENSP00000408370:M575K;ENSP00000370042:M551K;ENSP00000444640:M523K;ENSP00000370041:M618K	ENSP00000370041:M618K	M	-	2	0	BNC2	16426339	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.417000	0.34770	2.371000	0.80710	0.533000	0.62120	ATG	.		0.557	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		T	16436339	A	T	16436339	3	4	62	1	0	0	0	0	1	0	0	0	1477	217	8	5	1454	5	BNC2	9	16436339	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1660099	16436339	124777092	737	13105											
SLC24A2	25769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	19520911	19520911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctacagtgatgtcaaaaaTgttgcttccaacagagctgg	9	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:19520911T>A	ENST00000341998.2	-	9	1778	c.1717A>T	c.(1717-1719)Att>Ttt	p.I573F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I556F	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	573					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)		ATGTCAAAAATGTTGCTTCCA	0.507																																					p.I573F		.											.	SLC24A2-517	0			c.A1717T						.						141	126	131					9																	19520911		2203	4300	6503	SO:0001583	missense	25769	exon9			CAAAAATGTTGCT	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.1717A>T	9.37:g.19520911T>A	ENSP00000344801:p.Ile573Phe	Somatic	157	0		WXS	Illumina GAIIx	Phase_I	193	89	NM_020344	0	0	0	0	0	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562825	0.86335	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.66995	-0.24;-0.24	5.2	5.2	0.72013	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.78314	0.991;0.838	D	0.90300	0.4329	9	.	.	.	.	15.2382	0.73447	0.0:0.0:0.0:1.0	.	556;573	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	F	573;556	ENSP00000344801:I573F;ENSP00000286344:I556F	.	I	-	1	0	SLC24A2	19510911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.194000	0.70268	0.533000	0.62120	ATT	.		0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		A	19520911	T	A	19520911	3	1	62	1	0	0	0	0	1	0	0	0	14511	1464	51	5	276	5	SLC24A2	9	19520911	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3084572	19520911	121692520	738	13106											
CDKN2A	1029	hgsc.bcm.edu	37	chr9	21971150	21971150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggggtcggcgcagttggGctccgcgccgtggagcagca	20	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:21971150G>T	ENST00000304494.5	-	2	478	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	CDKN2A_ENST00000578845.2_Missense_Mutation_p.P19T|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P70T|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P70T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P70T|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P19T|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A125D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P19T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A84D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A84D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P19T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P19T	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	70			Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.P70A(1)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.P70S(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)		GCGCAGTTGGGCTCCGCGCCG	0.721		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.A84D		.											.	CDKN2A-23992	1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(54)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	c.C251A						.						8	10	9					9																	21971150		2154	4237	6391	SO:0001583	missense	1029	exon2			AGTTGGGCTCCGC	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.208C>A	9.37:g.21971150G>T	ENSP00000307101:p.Pro70Thr	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	36	12	NM_058195	0	0	18	36	18	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.57|19.57	3.853344|3.853344	0.71719|0.71719	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|D;D	0.77098|0.94576	-1.07;-1.02|-3.46;-3.46	5.79|5.79	4.89|4.89	0.63831|0.63831	.|Ankyrin repeat-containing domain (4);	1.154960|.	0.06683|.	N|.	0.768348|.	D|D	0.92704|0.92704	0.7681|0.7681	N|N	0.08118|0.08118	0|0	0.41896|0.41896	D|D	0.990392|0.990392	P|D	0.38922|0.89917	0.651|1.0	B|D	0.32805|0.91635	0.153|0.999	D|D	0.91782|0.91782	0.5436|0.5436	10|9	0.46703|0.27785	T|T	0.11|0.31	-8.9036|-8.9036	12.9063|12.9063	0.58154|0.58154	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	125|70	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	D|T	125;84|70	ENSP00000355153:A125D;ENSP00000432664:A84D|ENSP00000307101:P70T;ENSP00000394932:P70T	ENSP00000355153:A125D|ENSP00000307101:P70T	A|P	-|-	2|1	0|0	CDKN2A|CDKN2A	21961150|21961150	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.622000|0.622000	0.37654|0.37654	4.616000|4.616000	0.61197|0.61197	1.421000|1.421000	0.47157|0.47157	0.555000|0.555000	0.69702|0.69702	GCC|CCC	.		0.721	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		T	21971150	G	T	21971150	3	4	62	1	0	0	0	0	1	0	0	0	3168	1203	42	3	270	3	CDKN2A	9	21971150	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2450239	21971150	119242281	739	13107											
TMEM215	401498	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	32784389	32784389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagggatgcaccaagtggCcagagaacgagctgctgtgg	16	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:32784389C>A	ENST00000342743.5	+	2	573	c.208C>A	c.(208-210)Cca>Aca	p.P70T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	70						integral component of membrane (GO:0016021)		p.P70T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CACCAAGTGGCCAGAGAACGA	0.592																																					p.P70T		.											.	TMEM215-90	1	Substitution - Missense(1)	large_intestine(1)	c.C208A						.						88	77	81					9																	32784389		2203	4300	6503	SO:0001583	missense	401498	exon2			AAGTGGCCAGAGA		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.208C>A	9.37:g.32784389C>A	ENSP00000345468:p.Pro70Thr	Somatic	141	1		WXS	Illumina GAIIx	Phase_I	150	71	NM_212558	0	0	0	0	0	Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145705	0.21288	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.65739	0.2720	L	0.27053	0.805	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.70055	-0.4977	9	0.87932	D	0	-11.9317	16.1743	0.81842	0.0:1.0:0.0:0.0	.	70	Q68D42	TM215_HUMAN	T	70	.	ENSP00000345468:P70T	P	+	1	0	TMEM215	32774389	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	5.731000	0.68554	2.413000	0.81919	0.561000	0.74099	CCA	.		0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		A	32784389	C	A	32784389	3	1	62	1	0	0	0	0	1	0	0	0	16185	739	26	3	210	3	TMEM215	9	32784389	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	10813239	32784389	108429042	740	13108											
C9orf24	84688	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	34381072	34381072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcatcggggcgtgatcCgcggcagctgctggttccgc	15	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:34381072C>T	ENST00000297623.2	-	5	728	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	C9orf24_ENST00000379133.3_Missense_Mutation_p.R42Q|C9orf24_ENST00000379126.3_Missense_Mutation_p.R42Q|C9orf24_ENST00000379127.1_Missense_Mutation_p.R42Q|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379124.1_Missense_Mutation_p.R42Q	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	177					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GGGCGTGATCCGCGGCAGCTG	0.667																																					p.R177Q		.											.	C9orf24-91	0			c.G530A						.						13	18	16					9																	34381072		2195	4295	6490	SO:0001583	missense	84688	exon5			GTGATCCGCGGCA	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.530G>A	9.37:g.34381072C>T	ENSP00000297623:p.Arg177Gln	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	138	73	NM_032596	0	0	1	1	0	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.739019	0.30774	.	.	ENSG00000164972	ENST00000297623;ENST00000379126;ENST00000379133;ENST00000379127;ENST00000379124	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.65	0.798	0.18660	.	0.489219	0.18767	N	0.131703	T	0.12475	0.0303	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.12630	0.006;0.002;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.23762	-1.0179	10	0.13108	T	0.6	-7.6386	3.6246	0.08108	0.0:0.2312:0.2159:0.553	.	42;177;42	Q8NCR6-2;Q8NCR6;Q8NCR6-3	.;CI024_HUMAN;.	Q	177;42;42;42;42	ENSP00000297623:R177Q;ENSP00000368421:R42Q;ENSP00000368428:R42Q;ENSP00000368422:R42Q;ENSP00000368419:R42Q	ENSP00000297623:R177Q	R	-	2	0	C9orf24	34371072	0.986000	0.35501	0.652000	0.29579	0.943000	0.58893	0.751000	0.26348	0.285000	0.22329	-0.379000	0.06801	CGG	.		0.667	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		T	34381072	C	T	34381072	3	4	62	1	0	0	0	0	1	0	0	0	2482	652	23	1	376	1	C9orf24	9	34381072	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1596683	34381072	106832359	741	13109											
DNAJB5	25822	ucsc.edu;bcgsc.ca	37	chr9	34993362	34993362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaacgctgaggagaaGtttaaggagattgcagaggc	14	7	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:34993362G>A	ENST00000541010.1	+	1	3144	c.132G>A	c.(130-132)aaG>aaA	p.K44K	DNAJB5_ENST00000335998.3_Silent_p.K78K|DNAJB5_ENST00000545841.1_Silent_p.K44K|DNAJB5_ENST00000453597.3_Silent_p.K158K|DNAJB5_ENST00000454002.2_Silent_p.K116K|DNAJB5_ENST00000312316.5_Silent_p.K44K			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	44	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTGAGGAGAAGTTTAAGGAGA	0.527																																					p.K158K		.											.	DNAJB5-226	0			c.G474A						.						146	144	144					9																	34993362		2203	4300	6503	SO:0001819	synonymous_variant	25822	exon3			GGAGAAGTTTAAG	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.132G>A	9.37:g.34993362G>A		Somatic	167	3		WXS	Illumina GAIIx	Phase_I	209	71	NM_001135004	0	0	14	22	8	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	CCDS35007.1																																																																																			.		0.527	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			A	34993362	G	A	34993362	2	1	62	1	0	0	0	0	0	0	0	1	4637	1020	36	3		3	DNAJB5	9	34993362	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	612290	34993362	106220069	742	13110											
C9orf131	138724	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)cccfs	p.P343fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										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)			TCCGATGCCACCCCCCTGCCA	0.527																																					p.P342fs		.											.	C9orf131-90	0			c.1024delC						.						183	209	200					9																	35043650		2203	4300	6503	SO:0001589	frameshift_variant	138724	exon2			ATGCCACCCCCCT	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.1024delC	9.37:g.35043650delC	ENSP00000308279:p.Pro343fs	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	85	32	NM_203299	0	0	0	0	0	A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	CCDS6572.2																																																																																			.		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		-	35043650	C	-	35043650	7	5	62	1	0	1	0	1	0	0	0	0	2464	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	50288	35043650	106169781	743	13111											
C9orf131	138724	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35044520	35044520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctattgtaggggaaatggagCaaaaagaaaactgtgttcct	11	5	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35044520C>A	ENST00000312292.5	+	2	1941	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	C9orf131_ENST00000354479.5_Missense_Mutation_p.Q559K|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.Q584K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	632										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)			GGAAATGGAGCAAAAAGAAAA	0.512																																					p.Q632K		.											.	C9orf131-90	0			c.C1894A						.						105	107	106					9																	35044520		2203	4300	6503	SO:0001583	missense	138724	exon2			ATGGAGCAAAAAG	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.1894C>A	9.37:g.35044520C>A	ENSP00000308279:p.Gln632Lys	Somatic	63	1		WXS	Illumina GAIIx	Phase_I	91	33	NM_203299	0	0	0	0	0	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162841	0.57368	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.15372	2.43;2.43;2.44	3.96	3.05	0.35203	.	0.478549	0.17840	N	0.160234	T	0.11879	0.0289	L	0.39020	1.185	0.22489	N	0.999055	P;P;P;P	0.46142	0.873;0.873;0.873;0.873	B;B;B;B	0.39562	0.303;0.303;0.303;0.303	T	0.14559	-1.0468	10	0.21540	T	0.41	0.4259	9.0518	0.36380	0.2192:0.7808:0.0:0.0	.	107;632;559;584	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	K	584;559;632;107	ENSP00000393683:Q584K;ENSP00000346472:Q559K;ENSP00000308279:Q632K	ENSP00000308279:Q632K	Q	+	1	0	C9orf131	35034520	0.994000	0.37717	0.681000	0.30009	0.301000	0.27625	1.496000	0.35638	1.230000	0.43646	-0.182000	0.12963	CAA	.		0.512	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		A	35044520	C	A	35044520	3	1	62	1	0	0	0	0	1	0	0	0	2464	711	25	3	1916	3	C9orf131	9	35044520	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	870	35044520	106168911	744	13112											
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35720206	35720206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggttgtattgctgctgcaGgactgttgacctgtagaggg	15	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35720206G>A	ENST00000314888.9	-	13	1647	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	TLN1_ENST00000540444.1_Silent_p.L432L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	432	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCTGCAGGACTGTTGAC	0.567																																					p.L432L		.											.	TLN1-609	0			c.C1294T						.						81	79	79					9																	35720206		2203	4300	6503	SO:0001819	synonymous_variant	7094	exon13			GCTGCAGGACTGT	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.1294C>T	9.37:g.35720206G>A		Somatic	93	0		WXS	Illumina GAIIx	Phase_I	142	33	NM_006289	0	0	0	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			.		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35720206	G	A	35720206	2	1	62	1	0	0	0	0	0	0	0	1	15994	991	35	3		3	TLN1	9	35720206	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	675686	35720206	105493225	745	13113											
CREB3	7094	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	35735312	35735312	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcccccagggtcttgaaAtacacagcccagaatatgga	8	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35735312A>G	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.K184K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGTCTTGAAATACACAGCCC	0.448																																					p.K184K		.											.	CREB3-90	0			c.A552G						.						196	208	204					9																	35735312		2203	4300	6503	SO:0001631	upstream_gene_variant	10488	exon6			CTTGAAATACACA	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		9.37:g.35735312A>G	Exception_encountered	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	177	57	NM_006368	0	0	0	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			.		0.448	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		G	35735312	A	G	35735312	1	3	62	0	1	0	0	0	0	0	0	0	3862	98	4	4		4	CREB3	9	35735312	5'Flank	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	15106	35735312	105478119	746	13114											
CCIN	881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	36170340	36170340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggccctgcttgattccGtggtcatcctcggtggccag	14	12	1	1	rs150485511		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:36170340G>A	ENST00000335119.2	+	1	952	c.841G>A	c.(841-843)Gtg>Atg	p.V281M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	281					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.V281M(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCTTGATTCCGTGGTCATCCT	0.562																																					p.V281M		.											.	CCIN-92	1	Substitution - Missense(1)	endometrium(1)	c.G841A						.	G	MET/VAL	0,4406		0,0,2203	68	61	63		841	6	1	9	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCIN	NM_005893.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	281/589	36170340	1,13005	2203	4300	6503	SO:0001583	missense	881	exon1			GATTCCGTGGTCA	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.841G>A	9.37:g.36170340G>A	ENSP00000334996:p.Val281Met	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	111	49	NM_005893	0	0	0	0	0	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841125	0.51057	0.0	1.16E-4	ENSG00000185972	ENST00000335119	T	0.68025	-0.3	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.51477	D	0.000089	T	0.72598	0.3480	L	0.29908	0.895	0.37093	D	0.899538	D	0.71674	0.998	D	0.73708	0.981	T	0.73685	-0.3905	10	0.37606	T	0.19	-20.2399	15.9243	0.79603	0.0:0.0:1.0:0.0	.	281	Q13939	CALI_HUMAN	M	281	ENSP00000334996:V281M	ENSP00000334996:V281M	V	+	1	0	CCIN	36160340	1.000000	0.71417	0.969000	0.41365	0.807000	0.45602	5.667000	0.68067	2.839000	0.97877	0.655000	0.94253	GTG	G|1.000;A|0.000		0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		A	36170340	G	A	36170340	3	1	62	1	0	0	0	0	1	0	0	0	2885	1145	40	1	843	1	CCIN	9	36170340	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	435028	36170340	105043091	747	13115											
CCIN	881	ucsc.edu;bcgsc.ca	37	chr9	36170696	36170696	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atctatcgctatgatgagcgGaaggaagtctggtgcctggc	14	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:36170696G>C	ENST00000335119.2	+	1	1308	c.1197G>C	c.(1195-1197)cgG>cgC	p.R399R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ATGATGAGCGGAAGGAAGTCT	0.557																																					p.R399R		.											.	CCIN-92	0			c.G1197C						.						152	116	129					9																	36170696		2203	4300	6503	SO:0001819	synonymous_variant	881	exon1			TGAGCGGAAGGAA	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1197G>C	9.37:g.36170696G>C		Somatic	194	2		WXS	Illumina GAIIx	Phase_I	225	96	NM_005893	0	0	0	1	1	Q9BXG7	Silent	SNP	ENST00000335119.2	37	CCDS6599.1																																																																																			.		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		C	36170696	G	C	36170696	2	2	62	1	0	0	0	0	0	0	0	1	2885	1161	41	3		3	CCIN	9	36170696	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	356	36170696	105042735	748	13116											
FRMPD1	22844	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	37744759	37744759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctggctcctctgagggaGaccaagagcacaaacccagc	11	14	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:37744759G>A	ENST00000539465.1	+	16	3323	c.2730G>A	c.(2728-2730)gaG>gaA	p.E910E	FRMPD1_ENST00000377765.3_Silent_p.E910E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	910						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGAGGGAGACCAAGAGCA	0.577																																					p.E910E		.											.	FRMPD1-159	0			c.G2730A						.						66	61	63					9																	37744759		2203	4300	6503	SO:0001819	synonymous_variant	22844	exon16			GAGGGAGACCAAG	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2730G>A	9.37:g.37744759G>A		Somatic	86	2		WXS	Illumina GAIIx	Phase_I	88	43	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																			.		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		A	37744759	G	A	37744759	2	1	62	1	0	0	0	0	0	0	0	1	6081	933	33	3		3	FRMPD1	9	37744759	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1574063	37744759	103468672	749	13117											
FRMPD1	22844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	37745283	37745283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagatgagcctagaagtgAtgaatgtggaataaatccag	12	4	0	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:37745283A>G	ENST00000539465.1	+	16	3847	c.3254A>G	c.(3253-3255)gAt>gGt	p.D1085G	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1085G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1085						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTAGAAGTGATGAATGTGGA	0.403																																					p.D1085G		.											.	FRMPD1-159	0			c.A3254G						.						86	91	89					9																	37745283		2203	4300	6503	SO:0001583	missense	22844	exon16			GAAGTGATGAATG	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3254A>G	9.37:g.37745283A>G	ENSP00000444411:p.Asp1085Gly	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	91	32	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	6.417	0.444995	0.12164	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06142	3.34;3.34	5.11	-0.671	0.11381	.	1.316600	0.05633	N	0.582032	T	0.02012	0.0063	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.05959	T	0.93	0.8571	5.3293	0.15924	0.227:0.3047:0.4683:0.0	.	1085	Q5SYB0	FRPD1_HUMAN	G	1085	ENSP00000366995:D1085G;ENSP00000444411:D1085G	ENSP00000366995:D1085G	D	+	2	0	FRMPD1	37735283	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.078000	0.11375	-0.489000	0.06716	0.379000	0.24179	GAT	.		0.403	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		G	37745283	A	G	37745283	3	3	62	1	0	0	0	0	1	0	0	0	6081	333	12	4	3312	4	FRMPD1	9	37745283	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	524	37745283	103468148	750	13118											
CNTNAP3	79937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	39109179	39109179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgcggcagagcagtggCcccagtgtataagctgcttc	12	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:39109179C>T	ENST00000297668.6	-	15	2416	c.2343G>A	c.(2341-2343)ggG>ggA	p.G781G	CNTNAP3_ENST00000377656.2_Silent_p.G780G|CNTNAP3_ENST00000358144.2_Silent_p.G693G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	781	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		AGAGCAGTGGCCCCAGTGTAT	0.448																																					p.G781G		.											.	CNTNAP3-91	0			c.G2343A						.						54	49	50					9																	39109179		2203	4300	6503	SO:0001819	synonymous_variant	79937	exon15			CAGTGGCCCCAGT	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.2343G>A	9.37:g.39109179C>T		Somatic	389	0		WXS	Illumina GAIIx	Phase_I	456	202	NM_033655	0	0	0	3	3	B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																			.		0.448	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39109179	C	T	39109179	2	4	62	1	0	0	0	0	0	0	0	1	3655	726	26	3		3	CNTNAP3	9	39109179	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1363896	39109179	102104252	751	13119											
PRKACG	5568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	71628334	71628334	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcatagatgagcaccccTagggcccaccagtccacggc	9	16	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:71628334T>C	ENST00000377276.2	-	1	705	c.675A>G	c.(673-675)ctA>ctG	p.L225L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGCACCCCTAGGGCCCACC	0.612																																					p.L225L	Esophageal Squamous(110;2236 2623 32146)	.											.	PRKACG-1061	0			c.A675G						.						66	63	64					9																	71628334		2203	4300	6503	SO:0001819	synonymous_variant	5568	exon1			CACCCCTAGGGCC	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.675A>G	9.37:g.71628334T>C		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	105	47	NM_002732	0	0	0	0	0	O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	CCDS6625.1																																																																																			.		0.612	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			C	71628334	T	C	71628334	2	2	62	1	0	0	0	0	0	0	0	1	12541	1509	53	4		4	PRKACG	9	71628334	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	32519155	71628334	69585097	752	13120											
TJP2	9414	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	71831374	71831374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcctgctgatgggctGctccagtgagtgtcctccct	15	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:71831374G>A	ENST00000377245.4	+	3	442	c.234G>A	c.(232-234)ctG>ctA	p.L78L	TJP2_ENST00000539225.1_Silent_p.L109L|TJP2_ENST00000377259.1_Silent_p.L55L|TJP2_ENST00000265384.7_Silent_p.L78L|TJP2_ENST00000348208.4_Silent_p.L78L|TJP2_ENST00000453658.2_Silent_p.L55L|TJP2_ENST00000535702.1_Silent_p.L82L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	78	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTGATGGGCTGCTCCAGTGAG	0.532																																					p.L109L		.											.	TJP2-115	0			c.G327A						.						78	69	72					9																	71831374		2203	4300	6503	SO:0001819	synonymous_variant	9414	exon3			TGGGCTGCTCCAG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.234G>A	9.37:g.71831374G>A		Somatic	47	1		WXS	Illumina GAIIx	Phase_I	49	22	NM_001170416	0	0	0	0	0	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	CCDS6627.1																																																																																			.		0.532	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		A	71831374	G	A	71831374	2	1	62	1	0	0	0	0	0	0	0	1	15977	1306	46	3		3	TJP2	9	71831374	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	203040	71831374	69382057	753	13121											
APBA1	320	hgsc.bcm.edu	37	chr9	72131953	72131953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagctgggcgcggaggtcCtcgagggctcgcccgcgctg	18	15	0	0	rs149995729	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:72131953C>T	ENST00000265381.4	-	2	396	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	58					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGCGGAGGTCCTCGAGGGCTC	0.711													C|||	20	0.00399361	0	0.0072	5008	,	,		13816	0		0.0119	False		,,,				2504	0.0031				p.E58E		.											.	APBA1-91	0			c.G174A						.	C		4,4360		0,4,2178	11	11	11		174	2.2	0.9	9	dbSNP_134	11	136,8348		1,134,4107	no	coding-synonymous	APBA1	NM_001163.3		1,138,6285	TT,TC,CC		1.603,0.0917,1.0897		58/838	72131953	140,12708	2182	4242	6424	SO:0001819	synonymous_variant	320	exon2			GAGGTCCTCGAGG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.174G>A	9.37:g.72131953C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	38	21	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																			C|0.995;T|0.005		0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		T	72131953	C	T	72131953	2	4	62	1	0	0	0	0	0	0	0	1	756	680	24	3		3	APBA1	9	72131953	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	300579	72131953	69081478	754	13122											
PRUNE2	158471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	79325100	79325100	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatacagaatctgaggctCtcctatcaatggagcttggc	10	9	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:79325100C>T	ENST00000376718.3	-	8	2213	c.2090G>A	c.(2089-2091)aGa>aAa	p.R697K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R338K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	697					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGAGGCTCTCCTATCAAT	0.443																																					p.R697K		.											.	PRUNE2-157	0			c.G2090A						.						46	42	43					9																	79325100		1568	3582	5150	SO:0001583	missense	158471	exon8			GAGGCTCTCCTAT	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.2090G>A	9.37:g.79325100C>T	ENSP00000365908:p.Arg697Lys	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	64	29	NM_015225	0	0	0	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871715	0.33069	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.24538	1.85;1.85	5.86	4.97	0.65823	.	0.359607	0.24217	N	0.040463	T	0.47135	0.1429	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.48502	-0.9030	10	0.87932	D	0	-18.0451	10.5739	0.45217	0.0:0.7976:0.1339:0.0685	.	697	Q8WUY3	PRUN2_HUMAN	K	697;338;696	ENSP00000365908:R697K;ENSP00000397425:R338K	ENSP00000365908:R697K	R	-	2	0	PRUNE2	78514920	1.000000	0.71417	0.995000	0.50966	0.045000	0.14185	2.062000	0.41413	1.498000	0.48600	-0.127000	0.14921	AGA	.		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79325100	C	T	79325100	3	4	62	1	0	0	0	0	1	0	0	0	12683	913	32	3	7224	3	PRUNE2	9	79325100	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7193147	79325100	61888331	755	13123											
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	82267520	82267520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagcaacaactccagGcccagcatttatcacatgga	7	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:82267520G>A	ENST00000376552.2	+	7	1421	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	TLE4_ENST00000265284.6_Missense_Mutation_p.A110T|TLE4_ENST00000376544.3_Missense_Mutation_p.A135T|TLE4_ENST00000376537.4_Missense_Mutation_p.A135T|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.A135T|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	135	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						ACAACTCCAGGCCCAGCATTT	0.532																																					p.A135T		.											.	TLE4-524	0			c.G403A						.						104	112	109					9																	82267520		2042	4183	6225	SO:0001583	missense	7091	exon7			CTCCAGGCCCAGC	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.403G>A	9.37:g.82267520G>A	ENSP00000365735:p.Ala135Thr	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	116	53	NM_007005	0	0	2	2	0	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481729	0.84747	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.52295	0.7;0.67;0.73;0.72;0.74;0.68;0.8;1.36;1.72	6.17	6.17	0.99709	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.87547	2.89	0.80722	D	1	P;B;P;B	0.44521	0.705;0.11;0.837;0.38	B;B;B;B	0.43990	0.326;0.056;0.438;0.299	T	0.69320	-0.5176	10	0.72032	D	0.01	-21.9341	20.8794	0.99867	0.0:0.0:1.0:0.0	.	110;135;135;135	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	T	135;135;135;149;149;121;135;110;133;120;5	ENSP00000365735:A135T;ENSP00000365727:A135T;ENSP00000365703:A135T;ENSP00000415423:A149T;ENSP00000365720:A135T;ENSP00000265284:A110T;ENSP00000412567:A133T;ENSP00000409313:A120T;ENSP00000417844:A5T	ENSP00000265284:A110T	A	+	1	0	TLE4	81457340	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.040000	0.93783	2.941000	0.99782	0.655000	0.94253	GCC	.		0.532	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		A	82267520	G	A	82267520	3	1	62	1	0	0	0	0	1	0	0	0	15988	1203	42	3	429	3	TLE4	9	82267520	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2942420	82267520	58945911	756	13124											
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccgggcttctggccctctCcagtgctctaggaggtcagt	13	13	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:82267635C>T	ENST00000376552.2	+	7	1536	c.518C>T	c.(517-519)tCc>tTc	p.S173F	TLE4_ENST00000265284.6_Missense_Mutation_p.S148F|TLE4_ENST00000376544.3_Missense_Mutation_p.S173F|TLE4_ENST00000376537.4_Missense_Mutation_p.S173F|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.S173F|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	173	Gly/Pro-rich (GP 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						CTGGCCCTCTCCAGTGCTCTA	0.542																																					p.S173F		.											.	TLE4-524	0			c.C518T						.						97	97	97					9																	82267635		1947	4145	6092	SO:0001583	missense	7091	exon7			CCCTCTCCAGTGC	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.518C>T	9.37:g.82267635C>T	ENSP00000365735:p.Ser173Phe	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	96	43	NM_007005	0	0	9	18	9	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828807	0.71258	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.74;0.69;0.74;0.72;0.71;1.3;1.39	6.04	6.04	0.98038	.	0.107189	0.64402	D	0.000004	T	0.62502	0.2433	M	0.76170	2.325	0.80722	D	1	P;P;P;P	0.48230	0.723;0.729;0.907;0.76	P;P;P;P	0.54401	0.664;0.474;0.751;0.568	T	0.55114	-0.8191	10	0.09590	T	0.72	-20.5216	20.5948	0.99439	0.0:1.0:0.0:0.0	.	148;173;173;173	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	F	173;173;173;187;187;173;148;171;158;43	ENSP00000365735:S173F;ENSP00000365727:S173F;ENSP00000365703:S173F;ENSP00000415423:S187F;ENSP00000365720:S173F;ENSP00000265284:S148F;ENSP00000412567:S171F;ENSP00000409313:S158F;ENSP00000417844:S43F	ENSP00000265284:S148F	S	+	2	0	TLE4	81457455	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.677000	0.68142	2.873000	0.98535	0.563000	0.77884	TCC	.		0.542	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		T	82267635	C	T	82267635	3	4	62	1	0	0	0	0	1	0	0	0	15988	855	30	3	544	3	TLE4	9	82267635	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	115	82267635	58945796	757	13125											
FRMD3	257019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	85926825	85926825	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaaatggattctcttAtttccctgaaagaccacaaa	4	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:85926825A>T	ENST00000304195.3	-	8	956	c.750T>A	c.(748-750)aaT>aaA	p.N250K	FRMD3_ENST00000376438.1_Missense_Mutation_p.N250K|FRMD3_ENST00000376434.1_Missense_Mutation_p.N56K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	250	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGATTCTCTTATTTCCCTGAA	0.383																																					p.N250K		.											.	FRMD3-91	0			c.T750A						.						93	87	89					9																	85926825		1827	4097	5924	SO:0001583	missense	257019	exon8			TCTCTTATTTCCC	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.750T>A	9.37:g.85926825A>T	ENSP00000303508:p.Asn250Lys	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	35	15	NM_174938	0	0	4	4	0	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746259	0.69418	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.39	5.39	0.77823	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.974	D	0.87546	0.2462	10	0.44086	T	0.13	.	10.3504	0.43931	0.9225:0.0:0.0775:0.0	.	250;250	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	K	250;56;250;19;146	ENSP00000365621:N250K;ENSP00000365617:N56K;ENSP00000303508:N250K;ENSP00000412719:N19K	ENSP00000303508:N250K	N	-	3	2	FRMD3	85116645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.863000	0.56016	2.036000	0.60181	0.460000	0.39030	AAT	.		0.383	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		T	85926825	A	T	85926825	3	4	62	1	0	0	0	0	1	0	0	0	6074	446	16	5	1071	5	FRMD3	9	85926825	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3659190	85926825	55286606	758	13126											
KIF27	55582	bcgsc.ca	37	chr9	86504166	86504166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacataggcggacttgtgtgGaccttgcaagtgattccccc	11	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:86504166G>A	ENST00000297814.2	-	7	1955	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	KIF27_ENST00000334204.2_Silent_p.V604V|KIF27_ENST00000376347.1_5'UTR|KIF27_ENST00000413982.1_Silent_p.V604V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	604					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GACTTGTGTGGACCTTGCAAG	0.388																																					p.V604V		.											.	KIF27-523	0			c.C1812T						.						112	111	111					9																	86504166		2203	4300	6503	SO:0001819	synonymous_variant	55582	exon7			TGTGTGGACCTTG	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1812C>T	9.37:g.86504166G>A		Somatic	138	3		WXS	Illumina GAIIx	Phase_I	134	63	NM_017576	0	0	4	4	0	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	CCDS6665.1																																																																																			.		0.388	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86504166	G	A	86504166	2	1	62	1	0	0	0	0	0	0	0	1	8323	1161	41	3		3	KIF27	9	86504166	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	577341	86504166	54709265	759	13127											
AGTPBP1	23287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	88248284	88248284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttggagattaaatcAtagtcctttgaaaataaaaa	7	4	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:88248284A>G	ENST00000357081.3	-	14	1452	c.1308T>C	c.(1306-1308)taT>taC	p.Y436Y	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.Y448Y|AGTPBP1_ENST00000432218.1_Silent_p.Y274Y|AGTPBP1_ENST00000376083.3_Silent_p.Y396Y			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	436					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AGATTAAATCATAGTCCTTTG	0.308																																					p.Y396Y		.											.	AGTPBP1-158	0			c.T1188C						.						36	40	39					9																	88248284		2147	4156	6303	SO:0001819	synonymous_variant	23287	exon14			TAAATCATAGTCC	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1308T>C	9.37:g.88248284A>G		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	29	19	NM_015239	0	0	0	0	0	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																				.		0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		G	88248284	A	G	88248284	2	3	62	1	0	0	0	0	0	0	0	1	400	224	8	4		4	AGTPBP1	9	88248284	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1744118	88248284	52965147	760	13128											
NAA35	60560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	88576991	88576991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgtgcctttacattcataatCcagactttatagaagatcct	5	10	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:88576991C>G	ENST00000361671.5	+	6	545	c.412C>G	c.(412-414)Cca>Gca	p.P138A	NAA35_ENST00000376040.1_Missense_Mutation_p.P138A	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	138					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						CATTCATAATCCAGACTTTAT	0.353																																					p.P138A		.											.	NAA35-92	0			c.C412G						.						94	88	90					9																	88576991		2203	4300	6503	SO:0001583	missense	60560	exon6			CATAATCCAGACT	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.412C>G	9.37:g.88576991C>G	ENSP00000354972:p.Pro138Ala	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	78	39	NM_024635	0	0	6	10	4	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771828	0.90108	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.56340	1.77	0.80722	D	1	P;D	0.60160	0.808;0.987	B;P	0.62649	0.326;0.905	T	0.64193	-0.6465	9	0.12103	T	0.63	-8.8124	20.3138	0.98647	0.0:1.0:0.0:0.0	.	138;138	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	A	138	.	ENSP00000354972:P138A	P	+	1	0	NAA35	87766811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.347000	0.79356	2.814000	0.96858	0.585000	0.79938	CCA	.		0.353	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		G	88576991	C	G	88576991	3	3	62	1	0	0	0	0	1	0	0	0	10161	855	30	3	430	3	NAA35	9	88576991	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	328707	88576991	52636440	761	13129											
NFIL3	4783	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	94171973	94171973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgaggaaagtttttgCgtggcctcaaattcattatc	10	6	2	1	rs141662610		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:94171973C>T	ENST00000297689.3	-	2	1438	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	348	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGTTTTTGCGTGGCCTCAA	0.423													C|||	1	0.000199681	0	0	5008	,	,		21053	0.001		0	False		,,,				2504	0				p.T348T	Esophageal Squamous(152;732 1832 10053 26981 51762)	.											.	NFIL3-90	0			c.G1044A						.	C		1,4405	2.1+/-5.4	0,1,2202	128	123	125		1044	-7.3	0	9	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	NFIL3	NM_005384.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		348/463	94171973	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4783	exon2			TTTTTGCGTGGCC	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1044G>A	9.37:g.94171973C>T		Somatic	75	1		WXS	Illumina GAIIx	Phase_I	85	31	NM_005384	0	0	42	75	33	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	ENST00000297689.3	37	CCDS6690.1																																																																																			C|1.000;T|0.000		0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		T	94171973	C	T	94171973	2	4	62	1	0	0	0	0	0	0	0	1	10412	755	27	1		1	NFIL3	9	94171973	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5594982	94171973	47041458	762	13130											
WNK2	65268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	96051773	96051773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccctgtggaggtgggCgacagagacttcaccctgga	16	11	1	1	rs370214976		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96051773C>T	ENST00000297954.4	+	20	4848	c.4848C>T	c.(4846-4848)ggC>ggT	p.G1616G	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.G1191G|WNK2_ENST00000395477.2_Silent_p.G1579G|WNK2_ENST00000349097.3_Silent_p.G1228G	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1616					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						TGGAGGTGGGCGACAGAGACT	0.672																																					p.G1579G		.											.	WNK2-765	0			c.C4737T						.	C		1,4405		0,1,2202	21	24	23		4737	-10.4	0	9		23	0,8596		0,0,4298	no	coding-synonymous	WNK2	NM_006648.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		1579/2218	96051773	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	65268	exon19			GGTGGGCGACAGA	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.4848C>T	9.37:g.96051773C>T		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	86	37	NM_006648	0	0	0	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.958|8.958	0.969915|0.969915	0.18659|0.18659	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000411624	.|.	.|.	.|.	5.21|5.21	-10.4|-10.4	0.00318|0.00318	.|.	.|.	.|.	.|.	.|.	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38845|.	-0.9642|.	4|.	.|.	.|.	.|.	.|.	1.1701|1.1701	0.01823|0.01823	0.269:0.112:0.2107:0.4084|0.269:0.112:0.2107:0.4084	.|.	.|.	.|.	.|.	V|X	1575;376;102|1183	.|.	.|.	A|R	+|+	2|1	0|2	WNK2|WNK2	95091594|95091594	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.992000|0.992000	0.81027|0.81027	-5.212000|-5.212000	0.00141|0.00141	-2.216000|-2.216000	0.00732|0.00732	0.561000|0.561000	0.74099|0.74099	GCG|CGA	.		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96051773	C	T	96051773	2	4	62	1	0	0	0	0	0	0	0	1	17427	755	27	1		1	WNK2	9	96051773	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1879800	96051773	45161658	763	13131											
C9orf129	445577	bcgsc.ca	37	chr9	96097703	96097703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggaagatgacgatgtAgaagagccagggaagtaggc	16	5	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96097703A>G	ENST00000375419.1	-	3	681	c.318T>C	c.(316-318)tcT>tcC	p.S106S		NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	106	Poly-Ser.									endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						ATGACGATGTAGAAGAGCCAG	0.632																																					p.S106S		.											.	C9orf129-23	0			c.T318C						.						21	24	23					9																	96097703		2200	4291	6491	SO:0001819	synonymous_variant	445577	exon3			CGATGTAGAAGAG		CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.318T>C	9.37:g.96097703A>G		Somatic	694	3		WXS	Illumina GAIIx	Phase_I	919	345	NM_001098808	0	0	121	122	1		Silent	SNP	ENST00000375419.1	37	CCDS43850.1																																																																																			.		0.632	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808		G	96097703	A	G	96097703	2	3	62	1	0	0	0	0	0	0	0	1	2463	407	15	4		4	C9orf129	9	96097703	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	45930	96097703	45115728	764	13132											
FAM120A	23196	bcgsc.ca	37	chr9	96326794	96326794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagagaagctgctctggAggcagctgtcttaaataaag	12	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96326794A>G	ENST00000277165.6	+	18	3523	c.3329A>G	c.(3328-3330)gAg>gGg	p.E1110G	FAM120A_ENST00000333936.5_Missense_Mutation_p.E1138G|FAM120A_ENST00000340893.4_Missense_Mutation_p.E1064G|AL353629.1_ENST00000582353.1_RNA	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1110	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCTCTGGAGGCAGCTGTC	0.408																																					p.E1110G		.											.	FAM120A-90	0			c.A3329G						.						53	58	57					9																	96326794		2203	4300	6503	SO:0001583	missense	23196	exon18			CTCTGGAGGCAGC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3329A>G	9.37:g.96326794A>G	ENSP00000277165:p.Glu1110Gly	Somatic	103	3		WXS	Illumina GAIIx	Phase_I	105	44	NM_014612	0	0	63	136	73	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.040994	0.19669	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.49432	1.4;1.37;1.36;0.78	5.54	5.54	0.83059	.	0.085673	0.50627	D	0.000116	T	0.30854	0.0778	N	0.14661	0.345	0.38045	D	0.9356	B;B;B	0.31817	0.341;0.0;0.341	B;B;B	0.28011	0.085;0.0;0.085	T	0.22661	-1.0210	10	0.21540	T	0.41	-15.9429	15.6735	0.77297	1.0:0.0:0.0:0.0	.	1064;1138;1110	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	G	1110;1138;1064;486	ENSP00000277165:E1110G;ENSP00000334918:E1138G;ENSP00000344698:E1064G;ENSP00000412440:E486G	ENSP00000277165:E1110G	E	+	2	0	FAM120A	95366615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.963000	0.56773	2.107000	0.64212	0.533000	0.62120	GAG	.		0.408	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		G	96326794	A	G	96326794	3	3	62	1	0	0	0	0	1	0	0	0	5434	304	11	4	3399	4	FAM120A	9	96326794	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	229091	96326794	44886637	765	13133											
PTCH1	5727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	98244481	98244481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaaatgttccaatttccActgcctaataaaatgaaaag	4	9	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:98244481A>G	ENST00000331920.6	-	4	888	c.589T>C	c.(589-591)Tgg>Cgg	p.W197R	PTCH1_ENST00000375274.2_Missense_Mutation_p.W196R|PTCH1_ENST00000429896.2_Missense_Mutation_p.W46R|PTCH1_ENST00000437951.1_Missense_Mutation_p.W131R|PTCH1_ENST00000421141.1_Missense_Mutation_p.W46R|PTCH1_ENST00000418258.1_Missense_Mutation_p.W46R|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000468211.2_Missense_Mutation_p.W131R|PTCH1_ENST00000430669.2_Missense_Mutation_p.W131R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	197					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)				TCCAATTTCCACTGCCTAATA	0.313																																					p.W197R		.											.	PTCH1-3532	0			c.T589C						.						73	71	72					9																	98244481		2203	4300	6503	SO:0001583	missense	5727	exon4			ATTTCCACTGCCT	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.589T>C	9.37:g.98244481A>G	ENSP00000332353:p.Trp197Arg	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	50	20	NM_000264	0	0	0	0	0	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606439	0.66445	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;T	0.99264	-1.62;-3.62;-5.65;-5.65;-3.62;-5.65;-3.69;-3.61;-3.61;-3.61;-3.61;-1.62;1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.81341	2.54	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	0.99107	1.0845	10	0.59425	D	0.04	-14.6376	16.4608	0.84044	1.0:0.0:0.0:0.0	.	131;196;197	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	197;131;46;46;131;46;196;46;46;46;46;131;46	ENSP00000332353:W197R;ENSP00000389744:W131R;ENSP00000399981:W46R;ENSP00000396135:W46R;ENSP00000410287:W131R;ENSP00000414823:W46R;ENSP00000364423:W196R;ENSP00000447797:W46R;ENSP00000447008:W46R;ENSP00000447878:W46R;ENSP00000448843:W46R;ENSP00000449745:W131R;ENSP00000450131:W46R	ENSP00000332353:W197R	W	-	1	0	PTCH1	97284302	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.927000	0.92846	2.288000	0.76882	0.533000	0.62120	TGG	.		0.313	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		G	98244481	A	G	98244481	3	3	62	1	0	0	0	0	1	0	0	0	12772	159	6	4	3834	4	PTCH1	9	98244481	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1917687	98244481	42968950	766	13134											
ZNF367	195828	hgsc.bcm.edu;mdanderson.org	37	chr9	99180071	99180071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcggccccagggctgaGcgtcacgttgtgtgcgttct	14	15	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:99180071G>A	ENST00000375256.4	-	1	540	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	82					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CCAGGGCTGAGCGTCACGTTG	0.786																																					p.L82F		.											.	ZNF367-90	0			c.C244T						.						4	5	5					9																	99180071		1988	3955	5943	SO:0001583	missense	195828	exon1			GGCTGAGCGTCAC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.244C>T	9.37:g.99180071G>A	ENSP00000364405:p.Leu82Phe	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	32	11	NM_153695	0	0	2	2	0	Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766132	0.69878	.	.	ENSG00000165244	ENST00000375256	T	0.07800	3.16	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000002	T	0.23014	0.0556	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	T	0.01743	-1.1283	10	0.48119	T	0.1	-9.5784	14.6854	0.69047	0.0:0.0:1.0:0.0	.	82;82	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	F	82	ENSP00000364405:L82F	ENSP00000364405:L82F	L	-	1	0	ZNF367	98219892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	6.267000	0.72546	1.667000	0.50832	0.306000	0.20318	CTC	.		0.786	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			A	99180071	G	A	99180071	3	1	62	1	0	0	0	0	1	0	0	0	17919	971	34	3	828	3	ZNF367	9	99180071	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	935590	99180071	42033360	767	13135											
OR13C8	138802	broad.mit.edu	37	chr9	107331903	107331903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgggtcctgggtcactgGgcttgtggactcagtagtgc	16	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:107331903G>T	ENST00000335040.1	+	1	455	c.455G>T	c.(454-456)gGg>gTg	p.G152V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGTCACTGGGCTTGTGGAC	0.493																																					p.G152V		.											.	OR13C8-70	0			c.G455T						.						114	103	107					9																	107331903		2203	4300	6503	SO:0001583	missense	138802	exon1			TCACTGGGCTTGT		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.455G>T	9.37:g.107331903G>T	ENSP00000334068:p.Gly152Val	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	74	3	NM_001004483	0	0	0	0	0	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203888	0.38905	.	.	ENSG00000186943	ENST00000335040	T	0.39056	1.1	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.73528	0.3598	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80388	-0.1403	10	0.87932	D	0	.	16.576	0.84648	0.0:0.0:1.0:0.0	.	152	Q8NGS7	O13C8_HUMAN	V	152	ENSP00000334068:G152V	ENSP00000334068:G152V	G	+	2	0	OR13C8	106371724	0.949000	0.32298	0.356000	0.25785	0.043000	0.13939	2.240000	0.43088	2.850000	0.98022	0.655000	0.94253	GGG	.		0.493	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			T	107331903	G	T	107331903	3	4	62	1	0	0	0	0	1	0	0	0	10977	1232	43	3	457	3	OR13C8	9	107331903	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8151832	107331903	33881528	768	13136											
SLC44A1	23446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	108126992	108126992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgtggtaacatactAttttactaggtaagaatatg	10	4	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:108126992A>G	ENST00000374720.3	+	10	1491	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y415C|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y207C|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y415C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	415					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTAACATACTATTTTACTAGG	0.468																																					p.Y415C		.											.	SLC44A1-94	0			c.A1244G						.						109	101	103					9																	108126992		2203	4300	6503	SO:0001583	missense	23446	exon10			CATACTATTTTAC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1244A>G	9.37:g.108126992A>G	ENSP00000363852:p.Tyr415Cys	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	163	66	NM_080546	0	0	0	0	0	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476036	0.84640	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.72	5.72	0.89469	.	0.056302	0.64402	D	0.000001	D	0.82296	0.5006	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.979	D	0.87153	0.2210	10	0.87932	D	0	-13.7914	16.0168	0.80445	1.0:0.0:0.0:0.0	.	415;415;415	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	C	415;415;415;207	ENSP00000363855:Y415C;ENSP00000363852:Y415C;ENSP00000363856:Y415C;ENSP00000341856:Y207C	ENSP00000341856:Y207C	Y	+	2	0	SLC44A1	107166813	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.417000	0.80156	2.194000	0.70268	0.528000	0.53228	TAT	.		0.468	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		G	108126992	A	G	108126992	3	3	62	1	0	0	0	0	1	0	0	0	14680	449	16	4	1282	4	SLC44A1	9	108126992	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	795089	108126992	33086439	769	13137											
C9orf6	54942	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	111696815	111696815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtggtgccttcgctcgtgGatcgatacttcactcgctgg	13	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:111696815G>A	ENST00000322940.6	+	1	355	c.49G>A	c.(49-51)Gat>Aat	p.D17N	FAM206A_ENST00000466200.1_3'UTR|IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000374624.3_Missense_Mutation_p.D17N|IKBKAP_ENST00000374647.5_5'Flank	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	17						nucleus (GO:0005634)											TTCGCTCGTGGATCGATACTT	0.642																																					p.D17N		.											.	.	0			c.G49A						.						63	45	51					9																	111696815		2203	4299	6502	SO:0001583	missense	54942	exon1			CTCGTGGATCGAT	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 6"	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.49G>A	9.37:g.111696815G>A	ENSP00000363753:p.Asp17Asn	Somatic	210	0		WXS	Illumina GAIIx	Phase_I	463	190	NM_017832	0	0	4	7	3	Q5JTR0|Q5JTR1	Missense_Mutation	SNP	ENST00000322940.6	37	CCDS6774.1	.	.	.	.	.	.	.	.	.	.	G	36	5.973746	0.97162	.	.	ENSG00000119328	ENST00000322940;ENST00000374624	D	0.84442	-1.85	5.43	5.43	0.79202	.	0.047731	0.85682	D	0.000000	D	0.90181	0.6931	M	0.83953	2.67	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	D	0.91419	0.5157	10	0.72032	D	0.01	0.8045	15.0791	0.72099	0.0:0.0:1.0:0.0	.	17	Q9NX38	F206A_HUMAN	N	17	ENSP00000363753:D17N	ENSP00000363753:D17N	D	+	1	0	C9orf6	110736636	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.327000	0.65881	2.701000	0.92244	0.655000	0.94253	GAT	.		0.642	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053582.1	NM_017832		A	111696815	G	A	111696815	3	1	62	1	0	0	0	0	1	0	0	0	2495	1174	41	3	51	3	C9orf6	9	111696815	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3569823	111696815	29516616	770	13138											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113192665	113192665	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgacttcggcacctaCtgtataaatctcacctgagg	8	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:113192665C>G	ENST00000401783.2	-	33	5755	c.5419G>C	c.(5419-5421)Gta>Cta	p.V1807L	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1784L|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1807	Sushi 7. {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						TCGGCACCTACTGTATAAATC	0.418																																					p.V1807L		.											.	SVEP1-75	0			c.G5419C						.						62	56	58					9																	113192665		1869	4116	5985	SO:0001583	missense	79987	exon33			CACCTACTGTATA	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.5419G>C	9.37:g.113192665C>G	ENSP00000384917:p.Val1807Leu	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	134	62	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962588	0.34659	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65549	-0.16;-0.16	5.27	4.37	0.52481	Complement control module (2);Sushi/SCR/CCP (3);	0.101830	0.64402	N	0.000003	T	0.51210	0.1661	L	0.37800	1.135	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.45440	-0.9261	10	0.13108	T	0.6	.	16.1253	0.81392	0.0:0.8664:0.1336:0.0	.	1807	Q4LDE5	SVEP1_HUMAN	L	1807;1784	ENSP00000384917:V1807L;ENSP00000363593:V1784L	ENSP00000363593:V1784L	V	-	1	0	SVEP1	112232486	0.994000	0.37717	0.886000	0.34754	0.794000	0.44872	2.854000	0.48325	1.434000	0.47414	0.655000	0.94253	GTA	.		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113192665	C	G	113192665	3	3	62	1	0	0	0	0	1	0	0	0	15467	565	20	3	5360	3	SVEP1	9	113192665	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1495850	113192665	28020766	771	13139											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114148674	114148674	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggattctcgaactcgCcacatattgcttgtaaggtt	8	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:114148674C>T	ENST00000338205.5	-	31	3729	c.3510G>A	c.(3508-3510)tgG>tgA	p.W1170*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.W1348*			Q5VYK3	ECM29_HUMAN	KIAA0368	1176					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						CTCGAACTCGCCACATATTGC	0.289																																					p.W1348X		.											.	KIAA0368-68	0			c.G4044A						.						54	51	52					9																	114148674		1806	4074	5880	SO:0001587	stop_gained	23392	exon33			AACTCGCCACATA	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.3510G>A	9.37:g.114148674C>T	ENSP00000339889:p.Trp1170*	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	114	45	NM_001080398	0	0	26	29	3	O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	46	12.218170	0.99647	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0394	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1348;645	.	ENSP00000259335:W1348X	W	-	3	0	KIAA0368	113188495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.246000	0.78247	2.850000	0.98022	0.650000	0.86243	TGG	.		0.289	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114148674	C	T	114148674	4	4	62	1	0	0	0	0	0	1	0	0	8198	740	26	3	2085	3	KIAA0368	9	114148674	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	956009	114148674	27064757	772	13140											
ROD1	9991	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114986217	114986217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgagggcctgaattgCttcttccacagatcccaatt	7	12	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:114986217C>T	ENST00000374255.2	-	15	1720	c.1573G>A	c.(1573-1575)Gca>Aca	p.A525T	PTBP3_ENST00000343327.2_Missense_Mutation_p.A430T|PTBP3_ENST00000458258.1_Missense_Mutation_p.A531T|PTBP3_ENST00000334318.6_Missense_Mutation_p.A528T|PTBP3_ENST00000374257.1_Missense_Mutation_p.A497T			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	525	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCCTGAATTGCTTCTTCCACA	0.373																																					p.A531T		.											.	.	0			c.G1591A						.						124	122	123					9																	114986217		2203	4300	6503	SO:0001583	missense	9991	exon14			GAATTGCTTCTTC	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1573G>A	9.37:g.114986217C>T	ENSP00000363373:p.Ala525Thr	Somatic	77	1		WXS	Illumina GAIIx	Phase_I	72	29	NM_001244898	0	0	18	40	22	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991805	0.93106	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	6.03	6.03	0.97812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.63931	0.2553	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;0.985;1.0;0.985	T	0.74612	-0.3607	9	0.87932	D	0	-4.387	20.5568	0.99304	0.0:1.0:0.0:0.0	.	497;430;528;525;531	B1ALY5;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	T	497;528;531;525;430	ENSP00000363375:A497T;ENSP00000334499:A528T;ENSP00000414921:A531T;ENSP00000363373:A525T;ENSP00000340705:A430T	ENSP00000334499:A528T	A	-	1	0	ROD1	114026038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GCA	.		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			T	114986217	C	T	114986217	3	4	62	1	0	0	0	0	1	0	0	0	13564	797	28	3	89	3	ROD1	9	114986217	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	837543	114986217	26227214	773	13141											
RGS3	5998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	116269609	116269609	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctactcgtgtggcgcatggtCccccaggtcaagccaggacc	12	15	1	0	rs567505520		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:116269609C>T	ENST00000374140.2	+	14	1337	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	RGS3_ENST00000394646.3_Silent_p.V95V|RGS3_ENST00000343817.5_Silent_p.V95V|RGS3_ENST00000317613.6_Silent_p.V264V|RGS3_ENST00000374136.1_Silent_p.V2V|RGS3_ENST00000350696.5_Silent_p.V376V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	376	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GGCGCATGGTCCCCCAGGTCA	0.617																																					p.V376V		.											.	RGS3-227	0			c.C1128T						.						41	41	41					9																	116269609		2203	4300	6503	SO:0001819	synonymous_variant	5998	exon14			CATGGTCCCCCAG	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.1128C>T	9.37:g.116269609C>T		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	195	80	NM_144488	0	0	0	0	0	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																			.		0.617	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		T	116269609	C	T	116269609	2	4	62	1	0	0	0	0	0	0	0	1	13351	842	30	3		3	RGS3	9	116269609	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1283392	116269609	24943822	774	13142											
TNC	3371	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117803271	117803271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcaaagcccttcatggCgatgatgctgacaaggtact	9	11	2	2	rs2274750	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:117803271C>T	ENST00000350763.4	-	19	5752	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	TNC_ENST00000423613.2_Missense_Mutation_p.A1508T|TNC_ENST00000535648.1_Missense_Mutation_p.A1326T|TNC_ENST00000542877.1_Missense_Mutation_p.A1418T|TNC_ENST00000537320.1_Missense_Mutation_p.A1144T|TNC_ENST00000345230.3_Missense_Mutation_p.A1144T|TNC_ENST00000341037.4_Missense_Mutation_p.A1599T|TNC_ENST00000340094.3_Missense_Mutation_p.A1417T|TNC_ENST00000346706.3_Missense_Mutation_p.A1235T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs2274750).		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCCTTCATGGCGATGATGCTG	0.507													C|||	411	0.0820687	0.0983	0.1527	5008	,	,		18369	0.1151		0.0318	False		,,,				2504	0.0276				p.A1781T		.											.	TNC-517	0			c.G5341A	GRCh37	CM067722	TNC	M	rs2274750	.	C	THR/ALA	400,4006	200.4+/-223.7	14,372,1817	198	166	177		5341	4.1	0.9	9	dbSNP_100	177	266,8334	102.3+/-163.5	4,258,4038	yes	missense	TNC	NM_002160.3	58	18,630,5855	TT,TC,CC		3.093,9.0785,5.1207	possibly-damaging	1781/2202	117803271	666,12340	2203	4300	6503	SO:0001583	missense	3371	exon19			TCATGGCGATGAT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5341G>A	9.37:g.117803271C>T	ENSP00000265131:p.Ala1781Thr	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	266	117	NM_002160	0	0	143	288	145	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	174|174	0.07967032967032966|0.07967032967032966	48|48	0.0975609756097561|0.0975609756097561	44|44	0.12154696132596685|0.12154696132596685	56|56	0.0979020979020979|0.0979020979020979	26|26	0.03430079155672823|0.03430079155672823	C|C	22.7|22.7	4.323493|4.323493	0.81580|0.81580	0.090785|0.090785	0.03093|0.03093	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27|.	6.08|6.08	4.08|4.08	0.47627|0.47627	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.221485|.	0.47455|.	D|.	0.000227|.	T|T	0.04363|0.04363	0.0120|0.0120	M|M	0.89287|0.89287	3.02|3.02	0.53005|0.53005	P|P	3.399999999997849E-5|3.399999999997849E-5	D;P|.	0.61697|.	0.99;0.949|.	P;P|.	0.61132|.	0.884;0.743|.	T|T	0.58869|0.58869	-0.7560|-0.7560	9|4	0.72032|.	D|.	0.01|.	.|.	12.6089|12.6089	0.56540|0.56540	0.5553:0.4447:0.0:0.0|0.5553:0.4447:0.0:0.0	rs2274750;rs52811748;rs2274750|rs2274750;rs52811748;rs2274750	1508;1781|.	E9PC84;P24821|.	.;TENA_HUMAN|.	T|H	1417;1326;1235;1144;1781;1599;1508;1144;1418|343	ENSP00000344400:A1417T;ENSP00000438152:A1326T;ENSP00000344555:A1235T;ENSP00000345861:A1144T;ENSP00000265131:A1781T;ENSP00000339553:A1599T;ENSP00000411406:A1508T;ENSP00000443478:A1144T;ENSP00000442242:A1418T|.	ENSP00000344400:A1417T|.	A|R	-|-	1|2	0|0	TNC|TNC	116843092|116843092	0.997000|0.997000	0.39634|0.39634	0.929000|0.929000	0.37066|0.37066	0.752000|0.752000	0.42762|0.42762	2.473000|2.473000	0.45145|0.45145	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	GCC|CGC	C|0.937;T|0.063		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117803271	C	T	117803271	3	4	62	1	0	0	0	0	1	0	0	0	16317	768	27	1	1304	1	TNC	9	117803271	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1533662	117803271	23410160	775	13143											
ASTN2	23245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	119488071	119488071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgatactggagccacaGctgctgctggaccttcttgc	10	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:119488071G>A	ENST00000313400.4	-	16	2885	c.2785C>T	c.(2785-2787)Ctg>Ttg	p.L929L	ASTN2_ENST00000361209.2_Silent_p.L878L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.L925L			O75129	ASTN2_HUMAN	astrotactin 2	929					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGAGCCACAGCTGCTGCTGG	0.577																																					p.L878L		.											.	ASTN2-161	0			c.C2632T						.						168	158	161					9																	119488071		2203	4300	6503	SO:0001819	synonymous_variant	23245	exon15			GCCACAGCTGCTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2785C>T	9.37:g.119488071G>A		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	122	53	NM_014010	0	0	0	4	4	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				.		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		A	119488071	G	A	119488071	2	1	62	1	0	0	0	0	0	0	0	1	1066	962	34	3		3	ASTN2	9	119488071	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1684800	119488071	21725360	776	13144											
MEGF9	1955	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	123367687	123367687	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatatacagcccccacaaaTcccattagcagcaccacaac	3	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:123367687T>A	ENST00000373930.3	-	6	1701	c.1590A>T	c.(1588-1590)ggA>ggT	p.G530G	MEGF9_ENST00000426959.1_Silent_p.G567G	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	530						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCCCACAAATCCCATTAGCA	0.428																																					p.G530G		.											.	.	0			c.A1590T						.						126	121	123					9																	123367687		1938	4161	6099	SO:0001819	synonymous_variant	1955	exon6			CACAAATCCCATT	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1590A>T	9.37:g.123367687T>A		Somatic	192	2		WXS	Illumina GAIIx	Phase_I	248	92	NM_001080497	0	0	2	6	4	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																			.		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		A	123367687	T	A	123367687	2	1	62	1	0	0	0	0	0	0	0	1	9502	1422	50	5		5	MEGF9	9	123367687	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3879616	123367687	17845744	777	13145											
GSN	2934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	124064309	124064309	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctggcctgcagatctgGcgtgtggagaagttcgatct	15	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:124064309G>A	ENST00000373818.4	+	2	282	c.213G>A	c.(211-213)tgG>tgA	p.W71*	GSN_ENST00000449733.1_Nonsense_Mutation_p.W20*|GSN_ENST00000545652.1_Nonsense_Mutation_p.W28*|GSN_ENST00000412819.1_Nonsense_Mutation_p.W20*|GSN_ENST00000373808.2_Nonsense_Mutation_p.W20*|GSN_ENST00000341272.2_Nonsense_Mutation_p.W20*|GSN_ENST00000394353.2_Nonsense_Mutation_p.W31*|GSN_ENST00000436847.1_Nonsense_Mutation_p.W31*|GSN_ENST00000373823.3_Nonsense_Mutation_p.W20*	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	71	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCAGATCTGGCGTGTGGAGA	0.602																																					p.W71X		.											.	GSN-154	0			c.G213A						.						148	134	139					9																	124064309		2203	4300	6503	SO:0001587	stop_gained	2934	exon2			GATCTGGCGTGTG	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.213G>A	9.37:g.124064309G>A	ENSP00000362924:p.Trp71*	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	300	137	NM_000177	0	0	153	157	4	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Nonsense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	36	5.943183	0.97128	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	.	.	.	5.24	4.34	0.51931	.	0.055773	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8614	13.0997	0.59212	0.0779:0.0:0.9221:0.0	.	.	.	.	X	20;20;31;31;31;20;20;20;20;20;20;28;71	.	ENSP00000340888:W20X	W	+	3	0	GSN	123104130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.802000	0.99131	1.187000	0.43000	0.557000	0.71058	TGG	.		0.602	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		A	124064309	G	A	124064309	4	1	62	1	0	0	0	0	0	1	0	0	6852	1212	42	3	247	3	GSN	9	124064309	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	696622	124064309	17149122	778	13146											
OR1Q1	158131	broad.mit.edu	37	chr9	125377151	125377151	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttctggcaacttggccatCatcacactgattctctctgc	6	13	5	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125377151C>T	ENST00000297913.2	+	1	204	c.135C>T	c.(133-135)atC>atT	p.I45I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	45					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACTTGGCCATCATCACACTGA	0.493																																					p.I45I		.											.	OR1Q1-69	0			c.C135T						.						263	233	243					9																	125377151		2203	4300	6503	SO:0001819	synonymous_variant	158131	exon1			GGCCATCATCACA		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.135C>T	9.37:g.125377151C>T		Somatic	148	0		WXS	Illumina GAIIx	Phase_I	216	6	NM_012364	0	0	0	0	0	Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	ENST00000297913.2	37	CCDS35125.1																																																																																			.		0.493	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			T	125377151	C	T	125377151	2	4	62	1	0	0	0	0	0	0	0	1	11010	816	29	3		3	OR1Q1	9	125377151	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1312842	125377151	15836280	779	13147											
OR1B1	347169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125391061	125391061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaaccaaccatggTgaggtgggatccacaggtgg	16	7	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125391061T>A	ENST00000304833.3	-	1	791	c.754A>T	c.(754-756)Acc>Tcc	p.T252S	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	252						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						CCAACCATGGTGAGGTGGGAT	0.522																																					p.T252S		.											.	OR1B1-68	0			c.A754T						.						85	76	79					9																	125391061		2203	4300	6503	SO:0001583	missense	347169	exon1			CCATGGTGAGGTG	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.754A>T	9.37:g.125391061T>A	ENSP00000303151:p.Thr252Ser	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	136	54	NM_001004450	0	0	0	0	0	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	t	9.228	1.035045	0.19590	.	.	ENSG00000171484	ENST00000304833	T	0.38240	1.15	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000348	T	0.28699	0.0711	N	0.17278	0.47	0.26949	N	0.966071	P	0.47604	0.898	P	0.55391	0.775	T	0.18967	-1.0320	10	0.02654	T	1	-15.3896	8.3397	0.32237	0.0:0.09:0.0:0.91	.	252	Q8NGR6	OR1B1_HUMAN	S	252	ENSP00000303151:T252S	ENSP00000303151:T252S	T	-	1	0	OR1B1	124430882	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.143000	0.16115	2.104000	0.64026	0.524000	0.50904	ACC	.		0.522	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		A	125391061	T	A	125391061	3	1	62	1	0	0	0	0	1	0	0	0	10990	1696	59	5	205	5	OR1B1	9	125391061	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	13910	125391061	15822370	780	13148											
ZBTB6	10773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125673275	125673275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagtaaatgtcttcaaGcacacagtacactgaaaggg	10	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125673275G>A	ENST00000373659.3	-	2	1165	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ATGTCTTCAAGCACACAGTAC	0.448																																					p.C359C		.											.	ZBTB6-90	0			c.C1077T						.						98	91	93					9																	125673275		2203	4300	6503	SO:0001819	synonymous_variant	10773	exon2			CTTCAAGCACACA	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1077C>T	9.37:g.125673275G>A		Somatic	160	0		WXS	Illumina GAIIx	Phase_I	246	120	NM_006626	0	0	5	8	3	A8K8N6	Silent	SNP	ENST00000373659.3	37	CCDS6846.1																																																																																			.		0.448	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		A	125673275	G	A	125673275	2	1	62	1	0	0	0	0	0	0	0	1	17600	963	34	3		3	ZBTB6	9	125673275	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	282214	125673275	15540156	781	13149											
CRB2	286204	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	126132455	126132455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcacggcggaacctgcagtGacactgtggcaggctatatc	13	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:126132455G>A	ENST00000373631.3	+	7	1124	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	CRB2_ENST00000373629.2_Missense_Mutation_p.D43N|CRB2_ENST00000359999.3_Missense_Mutation_p.D375N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	375	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AACCTGCAGTGACACTGTGGC	0.607																																					p.D375N		.											.	CRB2-91	0			c.G1123A						.						56	59	58					9																	126132455		2202	4300	6502	SO:0001583	missense	286204	exon7			TGCAGTGACACTG	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1123G>A	9.37:g.126132455G>A	ENSP00000362734:p.Asp375Asn	Somatic	70	1		WXS	Illumina GAIIx	Phase_I	75	26	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750095	0.49257	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92348	-2.25;-2.25;-3.02	4.86	3.96	0.45880	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.187549	0.26166	N	0.025957	D	0.91061	0.7187	L	0.31294	0.92	0.54753	D	0.99998	D;D	0.61080	0.989;0.987	P;P	0.55965	0.788;0.728	D	0.91294	0.5061	10	0.87932	D	0	.	12.3361	0.55067	0.0826:0.0:0.9174:0.0	.	375;375	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	N	375;375;43	ENSP00000353092:D375N;ENSP00000362734:D375N;ENSP00000362732:D43N	ENSP00000353092:D375N	D	+	1	0	CRB2	125172276	1.000000	0.71417	0.119000	0.21687	0.024000	0.10985	6.936000	0.75892	1.029000	0.39812	0.448000	0.29417	GAC	.		0.607	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		A	126132455	G	A	126132455	3	1	62	1	0	0	0	0	1	0	0	0	3856	1290	45	3	1149	3	CRB2	9	126132455	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	459180	126132455	15080976	782	13150											
MAPKAP1	79109	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	128322005	128322005	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccaaacttatgaatgggcTcattggaatccagcgggggg	14	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:128322005T>A	ENST00000373498.1	-	5	823	c.755A>T	c.(754-756)gAg>gTg	p.E252V	MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E252V|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E60V|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E60V			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	252	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATGAATGGGCTCATTGGAATC	0.473																																					p.E252V		.											.	MAPKAP1-678	0			c.A755T						.						93	80	84					9																	128322005		2203	4300	6503	SO:0001583	missense	79109	exon6			ATGGGCTCATTGG	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.755A>T	9.37:g.128322005T>A	ENSP00000362597:p.Glu252Val	Somatic	135	2		WXS	Illumina GAIIx	Phase_I	159	75	NM_001006618	0	0	33	70	37	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	33	5.269302	0.95429	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.75	5.75	0.90469	.	0.045867	0.85682	D	0.000000	T	0.78591	0.4307	M	0.78049	2.395	0.80722	D	1	D;D;P;D;P	0.67145	0.996;0.989;0.713;0.982;0.85	D;P;P;P;P	0.65010	0.931;0.847;0.617;0.777;0.678	T	0.81484	-0.0912	9	0.72032	D	0.01	-1.4716	16.0664	0.80878	0.0:0.0:0.0:1.0	.	252;252;252;252;252	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	V	252;252;60;252;252;60;60;252;60	.	ENSP00000265960:E252V	E	-	2	0	MAPKAP1	127361826	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	GAG	.		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			A	128322005	T	A	128322005	3	1	62	1	0	0	0	0	1	0	0	0	9326	1551	54	5	859	5	MAPKAP1	9	128322005	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2189550	128322005	12891426	783	13151											
ZBTB34	403341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	129642194	129642194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctctcctccatattgCtctcagggacggcagcccac	9	15	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:129642194C>T	ENST00000373452.2	+	1	568	c.504C>T	c.(502-504)tgC>tgT	p.C168C	ZBTB34_ENST00000319119.4_Silent_p.C172C			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CTCCATATTGCTCTCAGGGAC	0.582																																					p.C168C		.											.	ZBTB34-69	0			c.C504T						.						55	60	58					9																	129642194		2007	4169	6176	SO:0001819	synonymous_variant	403341	exon2			ATATTGCTCTCAG	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.504C>T	9.37:g.129642194C>T		Somatic	92	0		WXS	Illumina GAIIx	Phase_I	116	57	NM_001099270	0	0	1	1	0	Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	CCDS48023.1																																																																																			.		0.582	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		T	129642194	C	T	129642194	2	4	62	1	0	0	0	0	0	0	0	1	17585	805	28	3		3	ZBTB34	9	129642194	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1320189	129642194	11571237	784	13152											
SPTAN1	6709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131346591	131346591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcatcaccattcaggccCgccagttccaagatgctggc	10	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131346591C>T	ENST00000372731.4	+	17	2334	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R742C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R742C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	742					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						CATTCAGGCCCGCCAGTTCCA	0.478																																					p.R742C	NSCLC(120;833 1744 2558 35612 37579)	.											.	SPTAN1-158	0			c.C2224T						.						49	53	52					9																	131346591		2203	4300	6503	SO:0001583	missense	6709	exon17			CAGGCCCGCCAGT	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.2224C>T	9.37:g.131346591C>T	ENSP00000361816:p.Arg742Cys	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	87	27	NM_003127	0	0	18	34	16	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038346	0.75617	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36340	1.26;1.26;1.26	5.52	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.998	D;D;P;D;D	0.81914	0.993;0.995;0.864;0.95;0.953	T	0.57329	-0.7830	10	0.56958	D	0.05	.	13.1715	0.59602	0.1587:0.8413:0.0:0.0	.	742;742;742;742;742	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	742	ENSP00000350882:R742C;ENSP00000361816:R742C;ENSP00000361824:R742C	ENSP00000350882:R742C	R	+	1	0	SPTAN1	130386412	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.462000	0.53042	2.594000	0.87642	0.561000	0.74099	CGC	.		0.478	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131346591	C	T	131346591	3	4	62	1	0	0	0	0	1	0	0	0	15164	652	23	1	2286	1	SPTAN1	9	131346591	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1704397	131346591	9866840	785	13153											
WDR34	89891	hgsc.bcm.edu	37	chr9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccctcaccgtctcccAgcggatgccctggacggccc	11	21	2	0	rs4837292		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1	1	1		178	2.1	1	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		C	131418828	A	C	131418828	3	2	62	1	0	0	0	0	1	0	0	0	17337	188	7	5	1468	5	WDR34	9	131418828	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	72237	131418828	9794603	786	13154											
PKN3	29941	broad.mit.edu;bcgsc.ca	37	chr9	131469666	131469666	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccttcagggacacctgtgAagcccaccgccctaacaggt	10	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131469666A>T	ENST00000291906.4	+	6	1210	c.817A>T	c.(817-819)Aag>Tag	p.K273*	RN7SL560P_ENST00000577943.1_RNA	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	273					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						GACACCTGTGAAGCCCACCGC	0.592																																					p.K273X		.											.	PKN3-521	0			c.A817T						.						36	37	36					9																	131469666		2203	4300	6503	SO:0001587	stop_gained	29941	exon6			CCTGTGAAGCCCA	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.817A>T	9.37:g.131469666A>T	ENSP00000291906:p.Lys273*	Somatic	39	1		WXS	Illumina GAIIx	Phase_I	56	24	NM_013355	0	0	2	2	0	Q9UM03	Nonsense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	40	8.098032	0.98651	.	.	ENSG00000160447	ENST00000291906	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.876	0.63653	1.0:0.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000291906:K273X	K	+	1	0	PKN3	130509487	1.000000	0.71417	0.993000	0.49108	0.582000	0.36321	5.603000	0.67619	2.163000	0.67991	0.459000	0.35465	AAG	.		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		T	131469666	A	T	131469666	4	4	62	1	0	0	0	0	0	1	0	0	12020	247	9	5	839	5	PKN3	9	131469666	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	50838	131469666	9743765	787	13155											
PKN3	29941	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	131480648	131480650	+	In_Frame_Del	DEL	AGA	AGA	-													ggggctgcagttcttacacgAgaagaagatcatttacaggt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131480648_131480650delAGA	ENST00000291906.4	+	17	2423_2425	c.2030_2032delAGA	c.(2029-2034)gagaag>gag	p.K679del	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TTCTTACACGAGAAGAAGATCAT	0.591																																					p.677_678del		.											.	PKN3-521	0			c.2030_2032del						.																																			SO:0001651	inframe_deletion	29941	exon17			TACACGAGAAGAA	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.2030_2032delAGA	9.37:g.131480654_131480656delAGA	ENSP00000291906:p.Lys679del	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	108	30	NM_013355	0	0	0	0	0	Q9UM03	In_Frame_Del	DEL	ENST00000291906.4	37	CCDS6908.1																																																																																			.		0.591	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		-	131480650	AGA	-	131480648	7	5	62	1	0	1	0	1	0	0	0	0	12020	304	11	0	2096	0	PKN3	9	131480648	In_Frame_Del	DEL	AGA	TCGA-PK-A5HB-01A-11D-A29I-10	10982	131480648	9732783	788	13156											
PRDM12	59335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	133556768	133556768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctggacaagcccttcgtGtgccgcttctgcaaccgccg	11	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:133556768G>A	ENST00000253008.2	+	5	876	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	272					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AGCCCTTCGTGTGCCGCTTCT	0.677																																					p.V272V		.											.	PRDM12-90	0			c.G816A						.																																			SO:0001819	synonymous_variant	59335	exon5			CTTCGTGTGCCGC	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.816G>A	9.37:g.133556768G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	150	30	NM_021619	0	0	0	0	0	A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																			.		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133556768	G	A	133556768	2	1	62	1	0	0	0	0	0	0	0	1	12495	1364	48	3		3	PRDM12	9	133556768	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2076120	133556768	7656663	789	13157											
BAT2L1	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	134366821	134366821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccagcagctgaccatgCcactgcctcggtacggctcc	10	18	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:134366821C>T	ENST00000357304.4	+	28	6290	c.6235C>T	c.(6235-6237)Cca>Tca	p.P2079S	PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P1385S|PRRC2B_ENST00000372249.1_Missense_Mutation_p.P176S|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P1385S|SNORD62B_ENST00000426867.1_RNA	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2079							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCTGACCATGCCACTGCCTCG	0.607																																					p.P2079S		.											.	PRRC2B-24	0			c.C6235T						.						47	55	53					9																	134366821		2100	4223	6323	SO:0001583	missense	84726	exon28			ACCATGCCACTGC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6235C>T	9.37:g.134366821C>T	ENSP00000349856:p.Pro2079Ser	Somatic	134	0		WXS	Illumina GAIIx	Phase_I	198	84	NM_013318	0	0	2	6	4	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837312|4.837312	0.91117|0.91117	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.02763	.|4.17;4.48;4.17	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.41500	.|U	.|0.000862	T|T	0.05868|0.05868	0.0153|0.0153	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52463	.|0.48;0.953	.|B;P	.|0.47744	.|0.12;0.556	T|T	0.22208|0.22208	-1.0223|-1.0223	5|10	.|0.87932	.|D	.|0	-17.6988|-17.6988	16.4418|16.4418	0.83903|0.83903	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1385;2079	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	V|S	85|1385;2079;1385;176	.|ENSP00000384606:P1385S;ENSP00000349856:P2079S;ENSP00000398853:P1385S	.|ENSP00000349856:P2079S	A|P	+|+	2|1	0|0	PRRC2B|PRRC2B	133356642|133356642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.862000|2.862000	0.48388|0.48388	2.552000|2.552000	0.86080|0.86080	0.555000|0.555000	0.69702|0.69702	GCC|CCA	.		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	134366821	C	T	134366821	3	4	62	1	0	0	0	0	1	0	0	0	1321	739	26	3	6345	3	BAT2L1	9	134366821	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	810053	134366821	6846610	790	13158											
GBGT1	26301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	136037733	136037733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggggcagactcaccacaGgacactgaggcttgtgcccg	14	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:136037733G>T	ENST00000372040.3	-	2	378	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	GBGT1_ENST00000372043.3_Missense_Mutation_p.L23M|GBGT1_ENST00000372036.3_Missense_Mutation_p.L23M|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.L23M|GBGT1_ENST00000372038.3_Missense_Mutation_p.L23M|RALGDS_ENST00000542690.1_Missense_Mutation_p.L23M	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	23					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACCACAGGACACTGAGG	0.647																																					p.L23M		.											.	GBGT1-90	0			c.C67A						.						35	33	33					9																	136037733		2202	4300	6502	SO:0001583	missense	26301	exon2			ACCACAGGACACT	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.67C>A	9.37:g.136037733G>T	ENSP00000361110:p.Leu23Met	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	121	51	NM_021996	0	0	0	0	0	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640177	0.47153	.	.	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.55930	0.49;5.02;5.02;4.58;0.92;0.96	2.86	2.86	0.33363	.	0.520568	0.16928	N	0.193810	T	0.66944	0.2841	M	0.65975	2.015	0.30687	N	0.751769	D;D;D;D	0.76494	0.997;0.999;0.999;0.96	D;D;D;P	0.87578	0.998;0.998;0.998;0.742	T	0.65565	-0.6137	10	0.87932	D	0	.	9.4065	0.38464	0.0:0.0:1.0:0.0	.	23;23;23;23	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	M	23	ENSP00000437518:L23M;ENSP00000361113:L23M;ENSP00000361110:L23M;ENSP00000437663:L23M;ENSP00000361108:L23M;ENSP00000361106:L23M	ENSP00000361106:L23M	L	-	1	2	GBGT1;RALGDS	135027554	0.347000	0.24853	0.873000	0.34254	0.520000	0.34377	0.732000	0.26072	1.892000	0.54788	0.563000	0.77884	CTG	.		0.647	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		T	136037733	G	T	136037733	3	4	62	1	0	0	0	0	1	0	0	0	6297	991	35	3	1000	3	GBGT1	9	136037733	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1670912	136037733	5175698	791	13159											
DBH	1621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	136501745	136501745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggaggctcaaggctggCgtcctgtttgggatgtccga	17	9	1	0	rs570356950		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:136501745C>T	ENST00000393056.2	+	1	264	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	84	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.G84G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCAAGGCTGGCGTCCTGTTTG	0.612													C|||	1	0.000199681	0	0	5008	,	,		17929	0		0.001	False		,,,				2504	0				p.G84G		.											.	DBH-516	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T						.						80	59	66					9																	136501745		2203	4300	6503	SO:0001819	synonymous_variant	1621	exon1			GGCTGGCGTCCTG	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.252C>T	9.37:g.136501745C>T		Somatic	51	0		WXS	Illumina GAIIx	Phase_I	69	26	NM_000787	0	0	0	0	0	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																			.		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136501745	C	T	136501745	2	4	62	1	0	0	0	0	0	0	0	1	4259	755	27	1		1	DBH	9	136501745	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	464012	136501745	4711686	792	13160											
KIAA1984	84960	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139700573	139700573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggaacacggaggagaAcctggagctgcagatggagg	17	8	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:139700573A>G	ENST00000338005.6	+	10	1027	c.992A>G	c.(991-993)aAc>aGc	p.N331S	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000357466.2_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		331										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACGGAGGAGAACCTGGAGCTG	0.652																																					p.N331S		.											.	KIAA1984-91	0			c.A992G						.						35	45	42					9																	139700573		2047	4183	6230	SO:0001583	missense	84960	exon10			AGGAGAACCTGGA																												ENST00000338005.6:c.992A>G	9.37:g.139700573A>G	ENSP00000338013:p.Asn331Ser	Somatic	70	1		WXS	Illumina GAIIx	Phase_I	90	38	NM_001039374	0	0	0	1	1	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116461	0.56505	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13307	2.6	5.07	5.07	0.68467	.	0.365941	0.20166	U	0.097859	T	0.12518	0.0304	L	0.59436	1.845	0.80722	D	1	P	0.40731	0.728	B	0.38378	0.272	T	0.03483	-1.1032	10	0.02654	T	1	-33.0786	11.2344	0.48931	1.0:0.0:0.0:0.0	.	331	Q5T5S1	K1984_HUMAN	S	331	ENSP00000338013:N331S	ENSP00000338013:N331S	N	+	2	0	KIAA1984	138820394	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.594000	0.36697	1.897000	0.54924	0.459000	0.35465	AAC	.		0.652	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			G	139700573	A	G	139700573	3	3	62	1	0	0	0	0	1	0	0	0	8293	43	2	4	1030	4	KIAA1984	9	139700573	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3198828	139700573	1512858	793	13161											
SSNA1	8636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140084326	140084326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacctgaccaaggctaCagccccagaccagaaaagta	10	12	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140084326C>T	ENST00000322310.5	+	3	400	c.320C>T	c.(319-321)aCa>aTa	p.T107I	TPRN_ENST00000541945.1_5'Flank|ANAPC2_ENST00000323927.2_5'Flank|SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	107					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		ACCAAGGCTACAGCCCCAGAC	0.602																																					p.T107I		.											.	SSNA1-153	0			c.C320T						.						56	58	57					9																	140084326		2202	4300	6502	SO:0001583	missense	8636	exon3			AGGCTACAGCCCC	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"Sjogren's syndrome nuclear autoantigen 1"			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.320C>T	9.37:g.140084326C>T	ENSP00000313752:p.Thr107Ile	Somatic	100	0		WXS	Illumina GAIIx	Phase_I	113	47	NM_003731	0	0	94	160	66	Q5VSG0|Q6FG70|Q9BVW8	Missense_Mutation	SNP	ENST00000322310.5	37	CCDS7034.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172482	0.38315	.	.	ENSG00000176101	ENST00000322310	.	.	.	3.41	3.41	0.39046	.	0.250471	0.32287	N	0.006305	T	0.46600	0.1401	L	0.43923	1.385	0.34036	D	0.654428	B	0.15141	0.012	B	0.12156	0.007	T	0.55903	-0.8067	9	0.36615	T	0.2	-2.7478	10.1901	0.43021	0.0:1.0:0.0:0.0	.	107	O43805	SSNA1_HUMAN	I	107	.	ENSP00000313752:T107I	T	+	2	0	SSNA1	139204147	0.572000	0.26668	0.796000	0.32109	0.825000	0.46686	2.389000	0.44407	1.746000	0.51805	0.313000	0.20887	ACA	.		0.602	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1	NM_003731		T	140084326	C	T	140084326	3	4	62	1	0	0	0	0	1	0	0	0	15234	478	17	3	330	3	SSNA1	9	140084326	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	383753	140084326	1129105	794	13162											
TPRN	286262	hgsc.bcm.edu	37	chr9	140087024	140087025	+	In_Frame_Ins	INS	-	-	TCC													cctcttcctcctcttcctctINStcctcctcctcctcctcctc					rs397516588|rs139510609|rs376810326		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140087024_140087025insTCC	ENST00000409012.4	-	2	1930_1931	c.1844_1845insGGA	c.(1843-1845)gaa>gaGGAa	p.615_615E>EE	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_In_Frame_Ins_p.554_554E>EE	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	615	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						cctcttcctcttcctcctcctc	0.599																																					p.E615delinsEE		.											.	TPRN-90	1	Deletion - In frame(1)	large_intestine(1)	c.1845_1846insGGA						.																																			SO:0001652	inframe_insertion	286262	exon2			TTCCTCTTCCTCC	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.1842_1844dupGGA	9.37:g.140087031_140087033dupTCC	ENSP00000387100:p.Glu621dup	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	91	0	NM_001128228	0	0	0	0	0	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Ins	INS	ENST00000409012.4	37	CCDS56594.1																																																																																			.		0.599	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		TCC	140087025	-	TCC	140087024	7	5	62	1	0	1	1	0	0	0	0	0	16469	1606	56	0	382	0	TPRN	9	140087024	In_Frame_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	2698	140087024	1126407	795	13163											
C9orf173	441476	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140145761	140145761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaattctgaccagaaggCagtgaaattcctggcaaatt	10	7	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140145761C>T	ENST00000412566.1	+	1	32	c.23C>T	c.(22-24)gCa>gTa	p.A8V	C9orf173_ENST00000388931.3_Missense_Mutation_p.A8V			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	8										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GACCAGAAGGCAGTGAAATTC	0.547																																					p.A8V		.											.	C9orf173-46	0			c.C23T						.						122	135	131					9																	140145761		1957	4142	6099	SO:0001583	missense	441476	exon1			AGAAGGCAGTGAA		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.23C>T	9.37:g.140145761C>T	ENSP00000391218:p.Ala8Val	Somatic	165	1		WXS	Illumina GAIIx	Phase_I	195	87	NM_001256701	0	0	0	0	0	A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635225	0.87760	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.59502	0.26;0.37	4.41	4.41	0.53225	.	0.000000	0.33515	N	0.004835	T	0.68632	0.3022	L	0.48642	1.525	0.34944	D	0.750622	D;D;D;D	0.89917	0.964;1.0;1.0;0.999	P;D;D;D	0.69824	0.615;0.966;0.966;0.917	T	0.78326	-0.2247	10	0.87932	D	0	-10.7761	14.5365	0.67963	0.0:1.0:0.0:0.0	.	8;8;8;8	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	V	8	ENSP00000373583:A8V;ENSP00000391218:A8V	ENSP00000373583:A8V	A	+	2	0	C9orf173	139265582	0.983000	0.35010	0.981000	0.43875	0.852000	0.48524	0.878000	0.28126	2.286000	0.76751	0.555000	0.69702	GCA	.		0.547	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		T	140145761	C	T	140145761	3	4	62	1	0	0	0	0	1	0	0	0	2479	710	25	3	25	3	C9orf173	9	140145761	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	58737	140145761	1067670	796	13164											
EHMT1	79813	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	140671199	140671199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaagaggtgAcgatagctaaagcagacacc	11	11	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140671199A>G	ENST00000460843.1	+	12	1948	c.1921A>G	c.(1921-1923)Acg>Gcg	p.T641A	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.T641A|EHMT1_ENST00000334856.6_Missense_Mutation_p.T610A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	641					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAAAGAGGTGACGATAGCTAA	0.602																																					p.T641A		.											.	EHMT1-154	0			c.A1921G						.						140	117	125					9																	140671199		2203	4300	6503	SO:0001583	missense	79813	exon12			GAGGTGACGATAG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1921A>G	9.37:g.140671199A>G	ENSP00000417980:p.Thr641Ala	Somatic	163	1		WXS	Illumina GAIIx	Phase_I	246	110	NM_001145527	0	0	15	35	20	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644634	0.67358	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71698	1.43;0.65;-0.59	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.74258	2.255	0.54753	D	0.999986	B;P;B	0.36712	0.004;0.566;0.423	B;B;B	0.35859	0.005;0.212;0.079	T	0.75141	-0.3422	10	0.59425	D	0.04	.	14.9601	0.71151	1.0:0.0:0.0:0.0	.	641;610;641	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	A	610;610;641;641	ENSP00000334476:T610A;ENSP00000417328:T641A;ENSP00000417980:T641A	ENSP00000334476:T610A	T	+	1	0	EHMT1	139791020	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	9.087000	0.94110	2.004000	0.58718	0.459000	0.35465	ACG	.		0.602	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		G	140671199	A	G	140671199	3	3	62	1	0	0	0	0	1	0	0	0	4997	275	10	4	1967	4	EHMT1	9	140671199	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	525438	140671199	542232	797	13165											
CACNA1B	774	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140850238	140850238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcgagcgagagctcaacGggtacctggagtggatcttc	14	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140850238G>A	ENST00000371372.1	+	8	1304	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	CACNA1B_ENST00000371363.1_Missense_Mutation_p.G387R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G387R|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G387R|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G387R|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	387	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGAGCTCAACGGGTACCTGGA	0.632																																					p.G387R		.											.	CACNA1B-138	0			c.G1159A						.						21	24	23					9																	140850238		1982	4173	6155	SO:0001583	missense	774	exon8			CTCAACGGGTACC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1159G>A	9.37:g.140850238G>A	ENSP00000360423:p.Gly387Arg	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	160	68	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783253	0.90282	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	5.65	4.75	0.60458	.	0.054403	0.85682	N	0.000000	D	0.94935	0.8362	M	0.89715	3.055	0.80722	D	1	D	0.53885	0.963	B	0.41174	0.349	D	0.94988	0.8132	10	0.72032	D	0.01	.	14.2146	0.65786	0.0725:0.0:0.9275:0.0	.	387	B1AQK6	.	R	387	ENSP00000360423:G387R;ENSP00000277551:G387R;ENSP00000360414:G387R;ENSP00000360408:G387R;ENSP00000360406:G387R	ENSP00000277551:G387R	G	+	1	0	CACNA1B	139970059	1.000000	0.71417	0.923000	0.36655	0.918000	0.54935	9.559000	0.98135	1.411000	0.46957	-0.350000	0.07774	GGG	.		0.632	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	140850238	G	A	140850238	3	1	62	1	0	0	0	0	1	0	0	0	2546	1116	39	1	1189	1	CACNA1B	9	140850238	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	179039	140850238	363193	798	13166											
DIP2C	22982	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	433695	433695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacttactgtcaggatgCcatgccagagcccgacgtcc	9	16	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:433695C>T	ENST00000280886.6	-	14	1739	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	DIP2C_ENST00000381496.3_Missense_Mutation_p.G444D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	551						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)		TGTCAGGATGCCATGCCAGAG	0.577																																					p.G551D		.											.	DIP2C-156	0			c.G1652A						.						121	112	115					10																	433695		2203	4300	6503	SO:0001583	missense	22982	exon14			AGGATGCCATGCC	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.1652G>A	10.37:g.433695C>T	ENSP00000280886:p.Gly551Asp	Somatic	208	2		WXS	Illumina GAIIx	Phase_I	313	135	NM_014974	0	0	0	0	0	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.658932|2.658932	0.47467|0.47467	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000421992|ENST00000280886;ENST00000381496	.|T;T	.|0.41758	.|0.99;0.99	4.75|4.75	4.75|4.75	0.60458|0.60458	.|AMP-dependent synthetase/ligase (1);	.|0.053759	.|0.64402	.|D	.|0.000001	T|T	0.66096|0.66096	0.2755|0.2755	M|M	0.77820|0.77820	2.39|2.39	0.48511|0.48511	D|D	0.999666|0.999666	.|D;P	.|0.59767	.|0.986;0.925	.|D;P	.|0.70227	.|0.968;0.892	T|T	0.71580|0.71580	-0.4550|-0.4550	5|10	.|0.66056	.|D	.|0.02	-26.3935|-26.3935	17.7309|17.7309	0.88377|0.88377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|444;551	.|E7EPU2;Q9Y2E4	.|.;DIP2C_HUMAN	T|D	19|551;444	.|ENSP00000280886:G551D;ENSP00000370907:G444D	.|ENSP00000280886:G551D	A|G	-|-	1|2	0|0	DIP2C|DIP2C	423695|423695	1.000000|1.000000	0.71417|0.71417	0.685000|0.685000	0.30070|0.30070	0.070000|0.070000	0.16714|0.16714	4.945000|4.945000	0.63568|0.63568	2.183000|2.183000	0.69458|0.69458	0.462000|0.462000	0.41574|0.41574	GCA|GGC	.		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	433695	C	T	433695	3	4	62	1	0	0	0	0	1	0	0	0	4543	739	26	3	3114	3	DIP2C	10	433695	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10		433695	135101052	799	13167											
ADARB2	105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	1284298	1284298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctggtcactgaggtgCtcgccgctgatgcacttggt	13	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:1284298C>T	ENST00000381312.1	-	5	1582	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	419	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACTGAGGTGCTCGCCGCTGA	0.672																																					p.E419E		.											.	ADARB2-153	0			c.G1257A						.						36	27	30					10																	1284298		2197	4292	6489	SO:0001819	synonymous_variant	105	exon5			GAGGTGCTCGCCG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1257G>A	10.37:g.1284298C>T		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	181	68	NM_018702	0	0	0	0	0	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																			.		0.672	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		T	1284298	C	T	1284298	2	4	62	1	0	0	0	0	0	0	0	1	283	796	28	3		3	ADARB2	10	1284298	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	850603	1284298	134250449	800	13168											
PITRM1	10531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	3205972	3205972	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttaagctgctcccatgTaagctccgggatgcacagtg	11	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:3205972T>A	ENST00000224949.4	-	7	770	c.736A>T	c.(736-738)Aca>Tca	p.T246S	PITRM1_ENST00000380989.2_Missense_Mutation_p.T246S|PITRM1_ENST00000451104.2_Missense_Mutation_p.T214S|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	246					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTCCCATGTAAGCTCCGGG	0.478																																					p.T246S		.											.	PITRM1-91	0			c.A736T						.						133	131	132					10																	3205972		1961	4156	6117	SO:0001583	missense	10531	exon7			CCCATGTAAGCTC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.736A>T	10.37:g.3205972T>A	ENSP00000224949:p.Thr246Ser	Somatic	127	0		WXS	Illumina GAIIx	Phase_I	174	81	NM_014889	0	0	58	101	43	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.735112	0.30774	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.42131	0.98;0.98;0.98	5.66	4.42	0.53409	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.041854	0.85682	D	0.000000	T	0.45558	0.1348	M	0.65498	2.005	0.43065	D	0.994698	B;B;B;B;B;B	0.32604	0.043;0.045;0.149;0.377;0.377;0.377	B;B;B;B;B;B	0.37989	0.023;0.113;0.17;0.262;0.262;0.262	T	0.52616	-0.8552	10	0.62326	D	0.03	.	12.3695	0.55246	0.1884:0.0:0.0:0.8116	.	239;214;246;246;246;239	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	S	246;239;246;214	ENSP00000224949:T246S;ENSP00000370377:T246S;ENSP00000401201:T214S	ENSP00000224949:T246S	T	-	1	0	PITRM1	3195972	1.000000	0.71417	0.970000	0.41538	0.011000	0.07611	3.590000	0.53979	2.176000	0.68965	0.529000	0.55759	ACA	.		0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			A	3205972	T	A	3205972	3	1	62	1	0	0	0	0	1	0	0	0	11992	1638	57	5	2461	5	PITRM1	10	3205972	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1921674	3205972	132328775	801	13169											
UCN3	114131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	5415774	5415774	+	Frame_Shift_Del	DEL	C	C	-													acaagttctacaaagccaagCccatcttcagctgcctcaac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:5415774delC	ENST00000380433.3	+	2	319	c.91delC	c.(91-93)cccfs	p.P31fs		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	31					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CAAAGCCAAGCCCATCTTCAG	0.627																																					p.P31fs		.											.	UCN3-90	0			c.91delC						.						46	47	47					10																	5415774		2203	4300	6503	SO:0001589	frameshift_variant	114131	exon2			GCCAAGCCCATCT	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.91delC	10.37:g.5415774delC	ENSP00000369798:p.Pro31fs	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	98	48	NM_053049	0	0	0	0	0	Q496H2|Q5SR91	Frame_Shift_Del	DEL	ENST00000380433.3	37	CCDS7065.1																																																																																			.		0.627	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		-	5415774	C	-	5415774	7	5	62	1	0	1	0	1	0	0	0	0	16978	739	26	0	93	0	UCN3	10	5415774	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	2209802	5415774	130118973	802	13170											
SFMBT2	57713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	7213881	7213881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccctcgggcttggtcggCgggcacttctccccttcctc	11	18	1	0	rs568359802	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7213881C>T	ENST00000361972.4	-	19	2481	c.2391G>A	c.(2389-2391)ccG>ccA	p.P797P	SFMBT2_ENST00000397167.1_Silent_p.P797P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	797					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						GCTTGGTCGGCGGGCACTTCT	0.701													c|||	2	0.000399361	0.0015	0	5008	,	,		13883	0		0	False		,,,				2504	0				p.P797P		.											.	SFMBT2-141	0			c.G2391A						.						10	12	11					10																	7213881		2134	4200	6334	SO:0001819	synonymous_variant	57713	exon19			GGTCGGCGGGCAC	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.2391G>A	10.37:g.7213881C>T		Somatic	19	0		WXS	Illumina GAIIx	Phase_I	39	21	NM_001029880	0	0	0	4	4	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																			.		0.701	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		T	7213881	C	T	7213881	2	4	62	1	0	0	0	0	0	0	0	1	14203	755	27	1		1	SFMBT2	10	7213881	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1798107	7213881	128320866	803	13171											
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	7788557	7788557	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgattctgttttgctaggCcagttcatgcaggaaccaaa	9	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7788557C>T	ENST00000358415.4	+	20	2749	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	ITIH2_ENST00000379587.4_Splice_Site_p.G850G	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	861					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTTGCTAGGCCAGTTCATGC	0.458																																					p.G861G		.											.	ITIH2-93	0			c.C2583T						.						66	57	60					10																	7788557		2203	4300	6503	SO:0001630	splice_region_variant	3698	exon20			GCTAGGCCAGTTC	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2582-1C>T	10.37:g.7788557C>T		Somatic	202	0		WXS	Illumina GAIIx	Phase_I	226	101	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																			.		0.458	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent	T	7788557	C	T	7788557	5	4	62	1	0	0	0	0	0	0	1	0	7931	753	26	3	2661	3	ITIH2	10	7788557	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	574676	7788557	127746190	804	13172											
KIN	22944	broad.mit.edu;bcgsc.ca	37	chr10	7817764	7817765	+	Splice_Site	INS	-	-	A													cgtaaaagtagggacctcctINSaaaaaaaagaaagttttaag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317																																					.		.											.	KIN-230	0			c.559-2->T						.																																			SO:0001630	splice_region_variant	22944	exon7			ACCTCCTAAAAAA	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.559-2->T	10.37:g.7817772_7817772dupA		Somatic	25	0		WXS	Illumina GAIIx	Phase_I	32	9	NM_012311	0	0	0	0	0		Splice_Site	INS	ENST00000379562.4	37	CCDS7080.1																																																																																			.		0.317	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Intron	A	7817765	-	A	7817764	8	5	62	1	0	1	1	0	0	0	1	0	8342	1536	53	0	656	0	KIN	10	7817764	Splice_Site	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	29207	7817764	127716983	805	13173											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	16930425	16930425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataaacttaccttctaagtGgaaggacacaaaagtcaaga	7	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:16930425G>T	ENST00000377833.4	-	56	8961	c.8896C>A	c.(8896-8898)Cac>Aac	p.H2966N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2966	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			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)	CCTTCTAAGTGGAAGGACACA	0.318																																					p.H2966N		.											.	CUBN-166	0			c.C8896A						.						128	116	120					10																	16930425		2203	4300	6503	SO:0001583	missense	8029	exon56			CTAAGTGGAAGGA	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.8896C>A	10.37:g.16930425G>T	ENSP00000367064:p.His2966Asn	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	66	29	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153617	0.38021	.	.	ENSG00000107611	ENST00000377833	T	0.15487	2.42	5.89	5.89	0.94794	CUB (5);	0.000000	0.46758	D	0.000265	T	0.17534	0.0421	L	0.28649	0.875	0.80722	D	1	D	0.54047	0.964	P	0.48524	0.58	T	0.03051	-1.1078	10	0.15066	T	0.55	.	14.7563	0.69567	0.0:0.2594:0.7406:0.0	.	2966	O60494	CUBN_HUMAN	N	2966	ENSP00000367064:H2966N	ENSP00000367064:H2966N	H	-	1	0	CUBN	16970431	1.000000	0.71417	0.999000	0.59377	0.162000	0.22319	2.189000	0.42621	2.793000	0.96121	0.561000	0.74099	CAC	.		0.318	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16930425	G	T	16930425	3	4	62	1	0	0	0	0	1	0	0	0	4060	1348	47	3	2023	3	CUBN	10	16930425	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9112661	16930425	118604322	806	13174											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	17024637	17024637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccactgggagcctggAaaatcccaccacaacctgga	8	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17024637A>G	ENST00000377833.4	-	31	4606	c.4541T>C	c.(4540-4542)tTc>tCc	p.F1514S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1514	CUB 10. {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)	GGGAGCCTGGAAAATCCCACC	0.433																																					p.F1514S		.											.	CUBN-166	0			c.T4541C						.						63	55	58					10																	17024637		2203	4300	6503	SO:0001583	missense	8029	exon31			GCCTGGAAAATCC	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.4541T>C	10.37:g.17024637A>G	ENSP00000367064:p.Phe1514Ser	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	51	26	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924187	0.73213	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.29917	1.55;1.55	5.39	4.24	0.50183	CUB (5);	0.150667	0.31210	N	0.008043	T	0.53334	0.1790	M	0.80616	2.505	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.58521	-0.7622	10	0.87932	D	0	.	11.8873	0.52610	0.869:0.0:0.0:0.1309	.	1514	O60494	CUBN_HUMAN	S	1514;36	ENSP00000367064:F1514S;ENSP00000391830:F36S	ENSP00000367064:F1514S	F	-	2	0	CUBN	17064643	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	8.803000	0.91915	0.970000	0.38263	-0.333000	0.08304	TTC	.		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17024637	A	G	17024637	3	3	62	1	0	0	0	0	1	0	0	0	4060	246	9	4	6478	4	CUBN	10	17024637	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	94212	17024637	118510110	807	13175											
CUBN	8029	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	17130173	17130173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattatttacctcaaggtaaTctttgttgcagtcatcatgg	7	7	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17130173T>A	ENST00000377833.4	-	15	2002	c.1937A>T	c.(1936-1938)gAt>gTt	p.D646V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	646	CUB 2. {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)	CTCAAGGTAATCTTTGTTGCA	0.413																																					p.D646V		.											.	CUBN-166	0			c.A1937T						.						78	74	75					10																	17130173		2203	4300	6503	SO:0001583	missense	8029	exon15			AGGTAATCTTTGT	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.1937A>T	10.37:g.17130173T>A	ENSP00000367064:p.Asp646Val	Somatic	77	1		WXS	Illumina GAIIx	Phase_I	87	40	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854470	0.71719	.	.	ENSG00000107611	ENST00000377833	T	0.35421	1.31	5.29	4.16	0.48862	CUB (5);	0.000000	0.46442	D	0.000286	T	0.72787	0.3504	H	0.99286	4.5	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.81413	-0.0944	10	0.87932	D	0	.	10.781	0.46377	0.0:0.0748:0.0:0.9252	.	646	O60494	CUBN_HUMAN	V	646	ENSP00000367064:D646V	ENSP00000367064:D646V	D	-	2	0	CUBN	17170179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.778000	0.85637	1.032000	0.39892	0.533000	0.62120	GAT	.		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17130173	T	A	17130173	3	1	62	1	0	0	0	0	1	0	0	0	4060	1435	50	5	9146	5	CUBN	10	17130173	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	105536	17130173	118404574	808	13176											
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	17146555	17146555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttttctgtacagttgAcacctgtccaacctgagtca	8	10	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17146555A>G	ENST00000377833.4	-	12	1345	c.1280T>C	c.(1279-1281)gTc>gCc	p.V427A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	427	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			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)	TGTACAGTTGACACCTGTCCA	0.393																																					p.V427A		.											.	CUBN-166	0			c.T1280C						.						113	83	93					10																	17146555		2203	4300	6503	SO:0001583	missense	8029	exon12			CAGTTGACACCTG	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.1280T>C	10.37:g.17146555A>G	ENSP00000367064:p.Val427Ala	Somatic	244	0		WXS	Illumina GAIIx	Phase_I	281	117	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605841	0.28623	.	.	ENSG00000107611	ENST00000377833	D	0.91351	-2.83	5.45	0.53	0.17102	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	1.225780	0.06052	N	0.656813	T	0.81327	0.4799	L	0.31526	0.94	0.09310	N	0.999996	B	0.19445	0.036	B	0.19391	0.025	T	0.64841	-0.6312	10	0.08381	T	0.77	.	3.3854	0.07269	0.4089:0.0:0.3989:0.1922	.	427	O60494	CUBN_HUMAN	A	427	ENSP00000367064:V427A	ENSP00000367064:V427A	V	-	2	0	CUBN	17186561	0.003000	0.15002	0.551000	0.28230	0.959000	0.62525	0.324000	0.19610	0.356000	0.24157	0.533000	0.62120	GTC	.		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17146555	A	G	17146555	3	3	62	1	0	0	0	0	1	0	0	0	4060	275	10	4	9815	4	CUBN	10	17146555	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	16382	17146555	118388192	809	13177											
TRDMT1	1787	broad.mit.edu	37	chr10	17199765	17199766	+	Frame_Shift_Ins	INS	-	-	G													ggatgtacagattcaattttINSggggaactccatcagtacct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17199765_17199766insG	ENST00000377799.3	-	8	608_609	c.561_562insC	c.(559-564)cccaaafs	p.K188fs	TRDMT1_ENST00000377766.5_Frame_Shift_Ins_p.Q116fs|TRDMT1_ENST00000412821.3_Frame_Shift_Ins_p.K164fs|TRDMT1_ENST00000351358.4_Frame_Shift_Ins_p.K142fs|TRDMT1_ENST00000457442.2_Frame_Shift_Ins_p.K107fs|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Frame_Shift_Ins_p.K65fs	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	188	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GATTCAATTTTGGGGAACTCCA	0.312																																					p.K188fs		.											.	TRDMT1-227	0			c.562_563insC						.																																			SO:0001589	frameshift_variant	1787	exon8			CAATTTTGGGGAA	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.562dupC	10.37:g.17199769_17199769dupG	ENSP00000367030:p.Lys188fs	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	14	6	NM_004412	0	0	0	0	0	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Frame_Shift_Ins	INS	ENST00000377799.3	37	CCDS7114.1																																																																																			.		0.312	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		G	17199766	-	G	17199765	7	5	62	1	0	1	1	0	0	0	0	0	16515	1821	63	0	629	0	TRDMT1	10	17199765	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	53210	17199765	118334982	810	13178											
KIAA1217	56243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	24762792	24762792	+	Frame_Shift_Del	DEL	C	C	-													gctcactataatgcccacggCccccctcacaccatgcagcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:24762792delC	ENST00000376454.3	+	6	1512	c.1482delC	c.(1480-1482)ggcfs	p.G494fs	KIAA1217_ENST00000307544.6_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000430453.2_Frame_Shift_Del_p.G415fs|KIAA1217_ENST00000396445.1_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.G494fs|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.G414fs|KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.G494fs|KIAA1217_ENST00000396446.1_Frame_Shift_Del_p.G212fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	494					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGCCCACGGCCCCCCTCACA	0.582																																					p.G494fs		.											.	KIAA1217-98	0			c.1482delC						.						91	81	84					10																	24762792		2203	4300	6503	SO:0001589	frameshift_variant	56243	exon6			CCACGGCCCCCCT	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1482delC	10.37:g.24762792delC	ENSP00000365637:p.Gly494fs	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	99	38	NM_019590	0	0	0	0	0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	CCDS31165.1																																																																																			.		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		-	24762792	C	-	24762792	7	5	62	1	0	1	0	1	0	0	0	0	8243	726	26	0	1504	0	KIAA1217	10	24762792	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	7563027	24762792	110771955	811	13179											
ANKRD26	22852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	27324108	27324108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccgttctaaacccaaagTcttttctctgagggcatctc	6	13	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27324108T>C	ENST00000376087.4	-	24	3436	c.3271A>G	c.(3271-3273)Act>Gct	p.T1091A	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T1107A|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T648A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1090					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAACCCAAAGTCTTTTCTCTG	0.348																																					p.T1091A		.											.	ANKRD26-138	0			c.A3271G						.						128	123	125					10																	27324108		1838	4096	5934	SO:0001583	missense	22852	exon24			CCAAAGTCTTTTC	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3271A>G	10.37:g.27324108T>C	ENSP00000365255:p.Thr1091Ala	Somatic	105	1		WXS	Illumina GAIIx	Phase_I	108	56	NM_014915	0	0	1	2	1	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286147	0.40394	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15256	2.44;2.44;2.44	5.43	5.43	0.79202	.	0.500858	0.17876	N	0.159012	T	0.14141	0.0342	L	0.48260	1.515	0.27961	N	0.936758	P;P;P	0.46784	0.884;0.816;0.816	B;B;B	0.39152	0.292;0.152;0.152	T	0.14643	-1.0465	10	0.27785	T	0.31	.	8.0706	0.30687	0.0:0.0897:0.0:0.9103	.	1091;1090;1107	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	A	648;1091;1107	ENSP00000365238:T648A;ENSP00000365255:T1091A;ENSP00000405112:T1107A	ENSP00000365238:T648A	T	-	1	0	ANKRD26	27364114	0.985000	0.35326	0.223000	0.23860	0.949000	0.60115	1.539000	0.36104	2.057000	0.61298	0.482000	0.46254	ACT	.		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			C	27324108	T	C	27324108	3	2	62	1	0	0	0	0	1	0	0	0	654	1667	58	4	1905	4	ANKRD26	10	27324108	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2561316	27324108	108210639	812	13180											
MASTL	84930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	27470451	27470451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagttatctgataatgCtcaaagtgcagtagaaatac	8	5	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27470451C>T	ENST00000375940.4	+	11	2480	c.2423C>T	c.(2422-2424)gCt>gTt	p.A808V	MASTL_ENST00000477034.1_Intron|MASTL_ENST00000342386.6_Missense_Mutation_p.A769V|MASTL_ENST00000375946.4_Missense_Mutation_p.A807V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGATAATGCTCAAAGTGCA	0.294																																					p.A808V		.											.	MASTL-522	0			c.C2423T						.						119	127	124					10																	27470451		2203	4300	6503	SO:0001583	missense	84930	exon11			ATAATGCTCAAAG	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2423C>T	10.37:g.27470451C>T	ENSP00000365107:p.Ala808Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	58	24	NM_001172303	0	0	20	32	12	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724217	0.89298	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.66815	-0.23;2.0;-0.23	6.04	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.323190	0.37857	N	0.001906	T	0.76513	0.3998	L	0.49350	1.555	0.44000	D	0.996702	D;P;P	0.57257	0.979;0.952;0.787	P;P;P	0.60117	0.804;0.869;0.526	T	0.78097	-0.2337	10	0.87932	D	0	-15.5616	18.9861	0.92771	0.0:0.8761:0.1239:0.0	.	769;808;807	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	V	807;769;808	ENSP00000365113:A807V;ENSP00000343446:A769V;ENSP00000365107:A808V	ENSP00000343446:A769V	A	+	2	0	MASTL	27510457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.219000	0.65262	2.873000	0.98535	0.561000	0.74099	GCT	.		0.294	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		T	27470451	C	T	27470451	3	4	62	1	0	0	0	0	1	0	0	0	9366	797	28	3	2465	3	MASTL	10	27470451	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	146343	27470451	108064296	813	13181											
MKX	283078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	27964211	27964211	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacttctgctatatgggAcgacttctggatgatgcagc	10	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27964211A>C	ENST00000375790.5	-	7	1438	c.1006T>G	c.(1006-1008)Tcc>Gcc	p.S336A	MKX_ENST00000419761.1_Missense_Mutation_p.S336A			Q8IYA7	MKX_HUMAN	mohawk homeobox	336					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTATATGGGACGACTTCTGG	0.463																																					p.S336A		.											.	MKX-91	0			c.T1006G						.						253	216	228					10																	27964211		2203	4300	6503	SO:0001583	missense	283078	exon7			TATGGGACGACTT	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1006T>G	10.37:g.27964211A>C	ENSP00000364946:p.Ser336Ala	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	102	39	NM_001242702	0	0	1	1	0	B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499477	0.85069	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.16597	2.33;2.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.10428	-1.0630	10	0.87932	D	0	-22.7664	16.0697	0.80914	1.0:0.0:0.0:0.0	.	336	Q8IYA7	MKX_HUMAN	A	336	ENSP00000364946:S336A;ENSP00000400896:S336A	ENSP00000364946:S336A	S	-	1	0	MKX	28004217	1.000000	0.71417	0.752000	0.31206	0.901000	0.52897	8.636000	0.91010	2.260000	0.74910	0.528000	0.53228	TCC	.		0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		C	27964211	A	C	27964211	3	2	62	1	0	0	0	0	1	0	0	0	9648	275	10	5	56	5	MKX	10	27964211	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	493760	27964211	107570536	814	13182											
ZNF438	220929	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	31139259	31139259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcttattctgcaaacctttCctactctgtattgttccaga	4	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:31139259C>G	ENST00000361310.3	-	6	404	c.75G>C	c.(73-75)agG>agC	p.R25S	ZNF438_ENST00000452305.1_Missense_Mutation_p.R15S|ZNF438_ENST00000444692.2_Missense_Mutation_p.R15S|ZNF438_ENST00000413025.1_Missense_Mutation_p.R25S|ZNF438_ENST00000538351.2_5'UTR|ZNF438_ENST00000331737.6_Missense_Mutation_p.R15S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.R25S|ZNF438_ENST00000442986.1_Missense_Mutation_p.R25S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	25					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCAAACCTTTCCTACTCTGTA	0.388																																					p.R25S		.											.	ZNF438-154	0			c.G75C						.						132	120	124					10																	31139259		2203	4300	6503	SO:0001583	missense	220929	exon7			ACCTTTCCTACTC	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.75G>C	10.37:g.31139259C>G	ENSP00000354663:p.Arg25Ser	Somatic	132	2		WXS	Illumina GAIIx	Phase_I	133	64	NM_182755	0	0	0	0	0	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	6.765	0.510015	0.12883	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000430896	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.33	-0.285	0.12866	.	0.244953	0.39687	N	0.001287	T	0.28699	0.0711	N	0.14661	0.345	0.80722	D	1	B;B	0.15473	0.008;0.013	B;B	0.19391	0.011;0.025	T	0.02844	-1.1103	10	0.51188	T	0.08	-10.089	4.3482	0.11143	0.151:0.4078:0.0:0.4412	.	25;15	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	15;25;25;25;25;15;15;25	ENSP00000333571:R15S;ENSP00000354663:R25S;ENSP00000406934:R25S;ENSP00000412363:R25S;ENSP00000387546:R25S;ENSP00000413060:R15S;ENSP00000410898:R15S	ENSP00000333571:R15S	R	-	3	2	ZNF438	31179265	0.011000	0.17503	0.072000	0.20136	0.159000	0.22180	-0.572000	0.05881	-0.006000	0.14370	0.655000	0.94253	AGG	.		0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31139259	C	G	31139259	3	3	62	1	0	0	0	0	1	0	0	0	17958	854	30	3	2419	3	ZNF438	10	31139259	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3175048	31139259	104395488	815	13183											
FZD8	8325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	35929513	35929513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcaccgaccacaggCcgatccagaagacggtgaag	13	12	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:35929513C>T	ENST00000374694.1	-	1	849	c.845G>A	c.(844-846)gGc>gAc	p.G282D	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	282					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						CGACCACAGGCCGATCCAGAA	0.602																																					p.G282D		.											.	FZD8-612	0			c.G845A						.						50	46	47					10																	35929513		2202	4300	6502	SO:0001583	missense	8325	exon1			CACAGGCCGATCC	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.845G>A	10.37:g.35929513C>T	ENSP00000363826:p.Gly282Asp	Somatic	140	1		WXS	Illumina GAIIx	Phase_I	185	91	NM_031866	0	0	3	7	4		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296747	0.60086	.	.	ENSG00000177283	ENST00000374694	D	0.85013	-1.93	3.01	2.04	0.26737	GPCR, family 2-like (1);	0.076883	0.50627	U	0.000104	D	0.92580	0.7643	M	0.91920	3.255	0.53005	D	0.99996	D	0.76494	0.999	D	0.76575	0.988	D	0.92281	0.5833	10	0.72032	D	0.01	.	10.7263	0.46070	0.0:0.803:0.1969:0.0	.	282	Q9H461	FZD8_HUMAN	D	282	ENSP00000363826:G282D	ENSP00000363826:G282D	G	-	2	0	FZD8	35969519	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	4.767000	0.62286	0.539000	0.28788	0.289000	0.19496	GGC	.		0.602	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		T	35929513	C	T	35929513	3	4	62	1	0	0	0	0	1	0	0	0	6160	739	26	3	1243	3	FZD8	10	35929513	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4790254	35929513	99605234	816	13184											
ANKRD30A	91074	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	37442574	37442574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagaaatagataaaatAaatggaaaattagaaggtaa	7	1	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37442574A>G	ENST00000602533.1	+	13	1713	c.1614A>G	c.(1612-1614)atA>atG	p.I538M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I538M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I538M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	594					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGATAAAATAAATGGAAAAT	0.323																																					p.I538M		.											.	ANKRD30A-161	0			c.A1614G						.						111	113	112					10																	37442574		1787	4052	5839	SO:0001583	missense	91074	exon13			TAAAATAAATGGA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1614A>G	10.37:g.37442574A>G	ENSP00000473551:p.Ile538Met	Somatic	390	1		WXS	Illumina GAIIx	Phase_I	401	63	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	6.726	0.502639	0.12822	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05996	3.36;3.36	1.71	1.71	0.24356	.	.	.	.	.	T	0.05410	0.0143	L	0.38175	1.15	0.09310	N	1	B	0.29432	0.244	B	0.26969	0.075	T	0.34800	-0.9814	9	0.56958	D	0.05	.	5.5282	0.16970	1.0:0.0:0.0:0.0	.	594	Q9BXX3	AN30A_HUMAN	M	538	ENSP00000354432:I538M;ENSP00000363792:I538M	ENSP00000354432:I538M	I	+	3	3	ANKRD30A	37482580	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	1.069000	0.30641	1.050000	0.40346	0.315000	0.21342	ATA	.		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37442574	A	G	37442574	3	3	62	1	0	0	0	0	1	0	0	0	658	352	13	4	1664	4	ANKRD30A	10	37442574	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1513061	37442574	98092173	817	13185											
ANKRD30A	91074	broad.mit.edu	37	chr10	37478469	37478469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagaaatagataaaatAaatggaaaattagaaggtaa	7	1	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37478469A>G	ENST00000602533.1	+	25	2427	c.2328A>G	c.(2326-2328)atA>atG	p.I776M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I895M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I776M|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	832					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGATAAAATAAATGGAAAAT	0.308																																					p.I776M		.											.	ANKRD30A-161	0			c.A2328G						.						9	8	8					10																	37478469		334	875	1209	SO:0001583	missense	91074	exon25			TAAAATAAATGGA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2328A>G	10.37:g.37478469A>G	ENSP00000473551:p.Ile776Met	Somatic	148	0		WXS	Illumina GAIIx	Phase_I	136	32	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	1.022	-0.684568	0.03353	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	0.746	-1.49	0.08718	.	.	.	.	.	T	0.03651	0.0104	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.35240	0.198	T	0.31052	-0.9957	9	0.49607	T	0.09	.	4.75	0.13056	0.4765:0.5235:0.0:0.0	.	832	Q9BXX3	AN30A_HUMAN	M	776;895	ENSP00000354432:I776M;ENSP00000363792:I895M	ENSP00000354432:I776M	I	+	3	3	ANKRD30A	37518475	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.725000	0.25970	-1.283000	0.02393	-0.902000	0.02854	ATA	.		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37478469	A	G	37478469	3	3	62	1	0	0	0	0	1	0	0	0	658	352	13	4	2426	4	ANKRD30A	10	37478469	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	35895	37478469	98056278	818	13186											
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	37508025	37508025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaccaataccaggaaaagGaaaataaatactttgaggac	7	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37508025G>A	ENST00000602533.1	+	34	3316	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1192K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1129					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGGAAAAGGAAAATAAATA	0.318																																					p.E1073K		.											.	ANKRD30A-161	0			c.G3217A						.						76	77	76					10																	37508025		1812	4065	5877	SO:0001583	missense	91074	exon34			GAAAAGGAAAATA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3217G>A	10.37:g.37508025G>A	ENSP00000473551:p.Glu1073Lys	Somatic	212	0		WXS	Illumina GAIIx	Phase_I	230	94	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	g	6.707	0.499046	0.12762	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.27720	1.65;1.65	2.81	1.89	0.25635	.	.	.	.	.	T	0.40094	0.1103	M	0.81112	2.525	0.29020	N	0.886339	P	0.36144	0.539	B	0.43018	0.405	T	0.37150	-0.9718	9	0.52906	T	0.07	.	7.2917	0.26370	0.1415:0.0:0.8585:0.0	.	1129	Q9BXX3	AN30A_HUMAN	K	1073;1192	ENSP00000354432:E1073K;ENSP00000363792:E1192K	ENSP00000354432:E1073K	E	+	1	0	ANKRD30A	37548031	1.000000	0.71417	0.053000	0.19242	0.004000	0.04260	4.169000	0.58223	0.384000	0.24942	-0.385000	0.06624	GAA	.		0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		A	37508025	G	A	37508025	3	1	62	1	0	0	0	0	1	0	0	0	658	1175	41	3	3351	3	ANKRD30A	10	37508025	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	29556	37508025	98026722	819	13187											
ALOX5	240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	45869760	45869760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtcaccgtggccactggCagccagtggttcgccggcac	14	15	1	0	rs372587191		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:45869760C>T	ENST00000374391.2	+	1	86	c.33C>T	c.(31-33)ggC>ggT	p.G11G	ALOX5_ENST00000542434.1_Silent_p.G11G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	11	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGCCACTGGCAGCCAGTGGT	0.697																																					p.G11G		.											.	ALOX5-228	0			c.C33T						.	C		0,4218		0,0,2109	20	14	16		33	2.8	1	10		16	1,8277		0,1,4138	no	coding-synonymous	ALOX5	NM_000698.2		0,1,6247	TT,TC,CC		0.0121,0.0,0.0080		11/675	45869760	1,12495	2109	4139	6248	SO:0001819	synonymous_variant	240	exon1			CACTGGCAGCCAG	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.33C>T	10.37:g.45869760C>T		Somatic	76	0		WXS	Illumina GAIIx	Phase_I	158	48	NM_000698	0	0	0	0	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	CCDS7212.1																																																																																			.		0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			T	45869760	C	T	45869760	2	4	62	1	0	0	0	0	0	0	0	1	540	697	25	3		3	ALOX5	10	45869760	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8361735	45869760	89664987	820	13188											
ALOX5	240	broad.mit.edu;bcgsc.ca	37	chr10	45939230	45939230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagtacctgaccgtggTgatcttcaccgcctccgccc	11	16	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:45939230T>A	ENST00000374391.2	+	12	1681	c.1628T>A	c.(1627-1629)gTg>gAg	p.V543E	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.V543E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	543	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGACCGTGGTGATCTTCACC	0.701																																					p.V543E		.											.	ALOX5-228	0			c.T1628A						.						39	38	38					10																	45939230		2202	4300	6502	SO:0001583	missense	240	exon12			CCGTGGTGATCTT	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1628T>A	10.37:g.45939230T>A	ENSP00000363512:p.Val543Glu	Somatic	62	1		WXS	Illumina GAIIx	Phase_I	142	83	NM_000698	0	0	0	0	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	T	32	5.175030	0.94807	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.91577	-2.87;-2.87	5.04	5.04	0.67666	Lipoxygenase, C-terminal (3);	0.422270	0.24922	N	0.034529	D	0.95439	0.8519	M	0.87547	2.89	0.80722	D	1	D;P;D	0.89917	1.0;0.953;0.999	D;P;D	0.80764	0.994;0.713;0.976	D	0.95914	0.8925	10	0.87932	D	0	-21.2458	12.784	0.57493	0.0:0.0:0.0:1.0	.	543;511;543	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	E	543	ENSP00000437634:V543E;ENSP00000363512:V543E	ENSP00000363512:V543E	V	+	2	0	ALOX5	45259236	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.119000	0.71590	2.118000	0.64928	0.528000	0.53228	GTG	.		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45939230	T	A	45939230	3	1	62	1	0	0	0	0	1	0	0	0	540	1696	59	5	1674	5	ALOX5	10	45939230	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	69470	45939230	89595517	821	13189											
MARCH8	220972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	46028623	46028623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagagatggcatcctgggAtggaatggcagagatctgat	15	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:46028623A>G	ENST00000319836.3	-	2	786	c.37T>C	c.(37-39)Tcc>Ccc	p.S13P	MARCH8_ENST00000395769.2_Missense_Mutation_p.S13P|MARCH8_ENST00000395771.3_Missense_Mutation_p.S13P|MARCH8_ENST00000453424.2_Missense_Mutation_p.S13P	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	13					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						GCATCCTGGGATGGAATGGCA	0.448																																					p.S13P	NSCLC(102;658 1594 2173 16344 34808)	.											.	MARCH8-68	0			c.T37C						.						116	106	109					10																	46028623		2203	4300	6503	SO:0001583	missense	220972	exon2			CCTGGGATGGAAT	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.37T>C	10.37:g.46028623A>G	ENSP00000317087:p.Ser13Pro	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	117	50	NM_001002266	0	0	4	5	1	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454411	0.43634	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.12147	2.71;2.71;2.71	4.83	-0.676	0.11361	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.21950	N	0.999458	B	0.27068	0.167	B	0.23419	0.046	T	0.40701	-0.9549	9	0.23302	T	0.38	.	1.834	0.03136	0.3255:0.4068:0.1079:0.1598	.	13	Q5T0T0	MARH8_HUMAN	P	13	ENSP00000379118:S13P;ENSP00000317087:S13P;ENSP00000379116:S13P	ENSP00000317087:S13P	S	-	1	0	MARCH8	45348629	0.632000	0.27172	0.931000	0.37212	0.998000	0.95712	-0.023000	0.12456	-0.098000	0.12285	0.460000	0.39030	TCC	.		0.448	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		G	46028623	A	G	46028623	3	3	62	1	0	0	0	0	1	0	0	0	9345	333	12	4	862	4	MARCH8	10	46028623	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	89393	46028623	89506124	822	13190											
GPRIN2	9721	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	47000008	47000008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcctggaggaggtgccGtcccctgtgcgggatgtgcg	17	12	0	0	rs111800394		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:47000008G>A	ENST00000374317.1	+	3	1401	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_ENST00000374314.4_Silent_p.P376P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													G|||	1	0.000199681	0	0	5008	,	,		35685	0		0.001	False		,,,				2504	0				p.P376P		.											.	GPRIN2-90	0			c.G1128A						.						164	140	148					10																	47000008		2203	4300	6503	SO:0001819	synonymous_variant	9721	exon3			GGTGCCGTCCCCT	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1128G>A	10.37:g.47000008G>A		Somatic	123	1		WXS	Illumina GAIIx	Phase_I	200	49	NM_014696	0	0	0	0	0	Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																			G|0.500;A|0.500		0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	47000008	G	A	47000008	2	1	62	1	0	0	0	0	0	0	0	1	6757	1132	40	1		1	GPRIN2	10	47000008	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	971385	47000008	88534739	823	13191											
PCDH15	65217	ucsc.edu;bcgsc.ca	37	chr10	55566476	55566476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatggactcctgttcaaCtgtgcttttcagcctgttcc	7	12	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:55566476C>T	ENST00000373965.2	-	36	5312	c.4918G>A	c.(4918-4920)Gtt>Att	p.V1640I	PCDH15_ENST00000414778.1_Missense_Mutation_p.V1637I	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)				TCCTGTTCAACTGTGCTTTTC	0.468										HNSCC(58;0.16)																											.		.											.	PCDH15-193	0			.						.						352	298	315					10																	55566476		1568	3582	5150	SO:0001583	missense	65217	.			GTTCAACTGTGCT	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.4918G>A	10.37:g.55566476C>T	ENSP00000363076:p.Val1640Ile	Somatic	212	2		WXS	Illumina GAIIx	Phase_I	231	78	.	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	C	12.64	1.997798	0.35226	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56941	0.43;0.48	6.02	5.12	0.69794	.	.	.	.	.	T	0.39733	0.1089	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14643	-1.0465	9	0.30078	T	0.28	.	14.8192	0.70059	0.0:0.9306:0.0:0.0694	.	1631;1637	C6ZEF7;C9J4F3	.;.	I	1640;1637;1633	ENSP00000363076:V1640I;ENSP00000410304:V1637I	ENSP00000363076:V1640I	V	-	1	0	PCDH15	55236482	1.000000	0.71417	0.886000	0.34754	0.995000	0.86356	4.384000	0.59607	1.551000	0.49450	0.655000	0.94253	GTT	.		0.468	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		T	55566476	C	T	55566476	3	4	62	1	0	0	0	0	1	0	0	0	11550	565	20	3	140	3	PCDH15	10	55566476	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8566468	55566476	79968271	824	13192											
C10orf107	219621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	63441022	63441022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatttctctattattcagTattcaaaatttatgacttta	4	5	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:63441022T>C	ENST00000330194.2	+	2	327	c.22T>C	c.(22-24)Tat>Cat	p.Y8H		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	8										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TATTATTCAGTATTCAAAATT	0.269																																					p.Y8H		.											.	C10orf107-90	0			c.T22C						.						83	87	85					10																	63441022		2197	4271	6468	SO:0001583	missense	219621	exon2			ATTCAGTATTCAA	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.22T>C	10.37:g.63441022T>C	ENSP00000328698:p.Tyr8His	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	40	23	NM_173554	0	0	0	0	0	Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	T	2.738	-0.262770	0.05754	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.56	-4.71	0.03279	.	1.579180	0.03592	N	0.232018	T	0.50973	0.1647	M	0.72118	2.19	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48269	-0.9050	9	0.40728	T	0.16	0.1162	11.0092	0.47652	0.1378:0.6907:0.0:0.1715	.	8	Q8IVU9	CJ107_HUMAN	H	8	.	ENSP00000328698:Y8H	Y	+	1	0	C10orf107	63111028	0.000000	0.05858	0.001000	0.08648	0.196000	0.23810	-0.027000	0.12371	-0.787000	0.04510	0.454000	0.30748	TAT	.		0.269	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		C	63441022	T	C	63441022	3	2	62	1	0	0	0	0	1	0	0	0	1586	1638	57	4	24	4	C10orf107	10	63441022	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	7874546	63441022	72093725	825	13193											
CCAR1	55749	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	70496802	70496802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcagctgcattacaAcaggtaaatctttaatatgt	8	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:70496802A>G	ENST00000265872.6	+	3	362	c.243A>G	c.(241-243)caA>caG	p.Q81Q	CCAR1_ENST00000535016.1_Silent_p.Q81Q|CCAR1_ENST00000543719.1_Silent_p.Q81Q|Y_RNA_ENST00000352915.2_RNA	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	81					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTGCATTACAACAGGTAAATC	0.398																																					p.Q81Q		.											.	CCAR1-159	0			c.A243G						.						31	30	30					10																	70496802		2203	4300	6503	SO:0001819	synonymous_variant	55749	exon3			ATTACAACAGGTA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.243A>G	10.37:g.70496802A>G		Somatic	187	1		WXS	Illumina GAIIx	Phase_I	199	70	NM_018237	0	0	0	0	0	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																			.		0.398	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		G	70496802	A	G	70496802	2	3	62	1	0	0	0	0	0	0	0	1	2737	40	2	4		4	CCAR1	10	70496802	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	7055780	70496802	65037945	826	13194											
C10orf35	219738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	71391540	71391540	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaatcgtgcaggatgAcgacccccgagtgaggacca	15	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:71391540A>T	ENST00000373279.4	+	3	200	c.41A>T	c.(40-42)gAc>gTc	p.D14V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	14						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCAGGATGACGACCCCCGA	0.597																																					p.D14V		.											.	C10orf35-92	0			c.A41T						.						163	120	135					10																	71391540		2203	4300	6503	SO:0001583	missense	219738	exon3			AGGATGACGACCC	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.41A>T	10.37:g.71391540A>T	ENSP00000362376:p.Asp14Val	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	254	102	NM_145306	0	0	10	26	16		Missense_Mutation	SNP	ENST00000373279.4	37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137147	0.77775	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000005	T	0.76765	0.4033	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79460	-0.1794	9	0.87932	D	0	-0.9712	13.408	0.60924	1.0:0.0:0.0:0.0	.	14	Q96D05	CJ035_HUMAN	V	14;56	.	ENSP00000362376:D14V	D	+	2	0	C10orf35	71061546	0.999000	0.42202	0.985000	0.45067	0.989000	0.77384	5.743000	0.68655	2.063000	0.61619	0.402000	0.26972	GAC	.		0.597	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		T	71391540	A	T	71391540	3	4	62	1	0	0	0	0	1	0	0	0	1608	275	10	5	43	5	C10orf35	10	71391540	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	894738	71391540	64143207	827	13195											
PPA1	5464	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	71969033	71969033	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgcttttaataataTcaatggcaaagtcctataat	6	6	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:71969033T>A	ENST00000373232.3	-	8	752	c.653A>T	c.(652-654)gAt>gTt	p.D218V		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	218					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						TTTAATAATATCAATGGCAAA	0.323																																					p.D218V		.											.	PPA1-153	0			c.A653T						.						107	100	102					10																	71969033		2203	4296	6499	SO:0001583	missense	5464	exon8			ATAATATCAATGG	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.653A>T	10.37:g.71969033T>A	ENSP00000362329:p.Asp218Val	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	74	28	NM_021129	0	0	281	489	208	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	37	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864132	0.51482	.	.	ENSG00000180817	ENST00000373232	T	0.46063	0.88	5.24	4.08	0.47627	.	0.299637	0.41194	D	0.000925	T	0.46425	0.1392	M	0.70275	2.135	0.80722	D	1	B	0.16603	0.018	B	0.31686	0.134	T	0.45425	-0.9262	10	0.72032	D	0.01	-6.6671	11.2121	0.48804	0.0:0.0:0.1541:0.8459	.	218	Q15181	IPYR_HUMAN	V	218	ENSP00000362329:D218V	ENSP00000362329:D218V	D	-	2	0	PPA1	71639039	0.696000	0.27757	0.941000	0.38009	0.967000	0.64934	3.706000	0.54830	0.799000	0.34018	0.533000	0.62120	GAT	.		0.323	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		A	71969033	T	A	71969033	3	1	62	1	0	0	0	0	1	0	0	0	12325	1435	50	5	232	5	PPA1	10	71969033	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	577493	71969033	63565714	828	13196											
ADAMTS14	140766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	72434451	72434451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtagtggacacgccaccCacactaccacgacactccag	8	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:72434451C>T	ENST00000373207.1	+	2	222	c.222C>T	c.(220-222)ccC>ccT	p.P74P	ADAMTS14_ENST00000373208.1_Silent_p.P74P	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	74					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACACGCCACCCACACTACCAC	0.667																																					p.P74P		.											.	ADAMTS14-232	0			c.C222T						.						45	39	41					10																	72434451		2203	4300	6503	SO:0001819	synonymous_variant	140766	exon2			GCCACCCACACTA	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.222C>T	10.37:g.72434451C>T		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	75	32	NM_080722	0	0	0	0	0	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																			.		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72434451	C	T	72434451	2	4	62	1	0	0	0	0	0	0	0	1	259	581	21	3		3	ADAMTS14	10	72434451	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	465418	72434451	63100296	829	13197											
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73553114	73553114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtcctacaggctaacGgtggtggccaccgaccgggg	16	12	0	0	rs142788731	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:73553114G>A	ENST00000224721.6	+	47	6449	c.6444G>A	c.(6442-6444)acG>acA	p.T2148T	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2143	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> N (in DFNB12). {ECO:0000269|PubMed:12522556}.		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						ACAGGCTAACGGTGGTGGCCA	0.597													G|||	4	0.000798722	0.003	0	5008	,	,		18811	0		0	False		,,,				2504	0				p.T2143T		.											.	CDH23-563	0			c.G6429A						.	G		8,4168		0,8,2080	66	74	71		6429	-8.3	0.9	10	dbSNP_134	71	0,8438		0,0,4219	no	coding-synonymous	CDH23	NM_022124.5		0,8,6299	AA,AG,GG		0.0,0.1916,0.0634		2143/3355	73553114	8,12606	2088	4219	6307	SO:0001819	synonymous_variant	64072	exon46			GCTAACGGTGGTG	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.6444G>A	10.37:g.73553114G>A		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	196	84	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				G|0.999;A|0.001		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73553114	G	A	73553114	2	1	62	1	0	0	0	0	0	0	0	1	3115	1103	39	1		1	CDH23	10	73553114	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1118663	73553114	61981633	830	13198											
SYNPO2L	79933	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75407283	75407283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcggggtcttgggagcCattggagggggggtcttagg	24	5	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75407283C>T	ENST00000394810.2	-	4	2276	c.2127G>A	c.(2125-2127)atG>atA	p.M709I	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.M485I	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	709	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCTTGGGAGCCATTGGAGGGG	0.622																																					p.M709I		.											.	SYNPO2L-91	0			c.G2127A						.						54	66	62					10																	75407283		2203	4300	6503	SO:0001583	missense	79933	exon4			GGGAGCCATTGGA	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2127G>A	10.37:g.75407283C>T	ENSP00000378289:p.Met709Ile	Somatic	23	0		WXS	Illumina GAIIx	Phase_I	35	14	NM_001114133	0	0	0	0	0	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756611	0.15846	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.21734	1.99;2.32	4.86	4.86	0.63082	.	0.000000	0.53938	D	0.000058	T	0.16938	0.0407	L	0.36672	1.1	0.25444	N	0.988064	B;B	0.19200	0.008;0.034	B;B	0.19391	0.016;0.025	T	0.12734	-1.0536	10	0.16420	T	0.52	-11.4101	13.6725	0.62434	0.0:1.0:0.0:0.0	.	709;485	Q9H987;Q9H987-2	SYP2L_HUMAN;.	I	485;709	ENSP00000361964:M485I;ENSP00000378289:M709I	ENSP00000361964:M485I	M	-	3	0	SYNPO2L	75077289	0.002000	0.14202	0.866000	0.34008	0.448000	0.32197	0.870000	0.28010	2.679000	0.91253	0.561000	0.74099	ATG	.		0.622	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		T	75407283	C	T	75407283	3	4	62	1	0	0	0	0	1	0	0	0	15505	594	21	3	810	3	SYNPO2L	10	75407283	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1854169	75407283	60127464	831	13199											
SYNPO2L	79933	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	75408109	75408109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggggctgggtgggagcAcagctgcctctgggggagca	20	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75408109A>G	ENST00000394810.2	-	4	1450	c.1301T>C	c.(1300-1302)gTg>gCg	p.V434A	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.V210A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	434	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGTGGGAGCACAGCTGCCTC	0.667																																					p.V434A		.											.	SYNPO2L-91	0			c.T1301C						.						16	19	18					10																	75408109		2198	4293	6491	SO:0001583	missense	79933	exon4			GGGAGCACAGCTG	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1301T>C	10.37:g.75408109A>G	ENSP00000378289:p.Val434Ala	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	20	8	NM_001114133	0	0	0	2	2	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.776517	0.00640	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.22743	1.95;1.94;2.3	4.43	3.27	0.37495	.	1.409390	0.04554	N	0.390475	T	0.15782	0.0380	N	0.22421	0.69	0.09310	N	1	B;B	0.14438	0.009;0.01	B;B	0.13407	0.002;0.009	T	0.31833	-0.9929	10	0.12430	T	0.62	-2.1967	9.7949	0.40728	0.8265:0.1735:0.0:0.0	.	434;210	Q9H987;Q9H987-2	SYP2L_HUMAN;.	A	210;434;434	ENSP00000361964:V210A;ENSP00000361963:V434A;ENSP00000378289:V434A	ENSP00000361963:V434A	V	-	2	0	SYNPO2L	75078115	0.000000	0.05858	0.818000	0.32626	0.521000	0.34408	0.325000	0.19628	0.715000	0.32103	0.402000	0.26972	GTG	.		0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		G	75408109	A	G	75408109	3	3	62	1	0	0	0	0	1	0	0	0	15505	159	6	4	1636	4	SYNPO2L	10	75408109	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	826	75408109	60126638	832	13200											
NDST2	8509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75566103	75566103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggcggagatggggatActcctcagtgctggtcacct	16	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75566103A>G	ENST00000309979.6	-	6	1934	c.1378T>C	c.(1378-1380)Tat>Cat	p.Y460H	NDST2_ENST00000299641.4_Missense_Mutation_p.Y337H|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Y460H			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	460	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGATGGGGATACTCCTCAGTG	0.567																																					p.Y460H		.											.	NDST2-91	0			c.T1378C						.						81	76	77					10																	75566103		2203	4300	6503	SO:0001583	missense	8509	exon6			GGGGATACTCCTC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1378T>C	10.37:g.75566103A>G	ENSP00000310657:p.Tyr460His	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	92	40	NM_003635	0	0	6	17	11	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095602	0.76870	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.60672	0.38;0.17	5.98	5.98	0.97165	.	0.112509	0.64402	D	0.000007	T	0.75532	0.3862	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.80764	0.982;0.994;0.968	T	0.77466	-0.2577	10	0.62326	D	0.03	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	337;130;460	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	H	460;337	ENSP00000310657:Y460H;ENSP00000299641:Y337H	ENSP00000299641:Y337H	Y	-	1	0	NDST2	75236109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	TAT	.		0.567	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		G	75566103	A	G	75566103	3	3	62	1	0	0	0	0	1	0	0	0	10295	391	14	4	1313	4	NDST2	10	75566103	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	157994	75566103	59968644	833	13201											
NDST2	8509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75567679	75567679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgcagtaccggtctagCagttcccgactccaggcatc	9	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75567679C>T	ENST00000309979.6	-	3	1024	c.468G>A	c.(466-468)ctG>ctA	p.L156L	NDST2_ENST00000299641.4_Silent_p.L33L|RP11-574K11.31_ENST00000603027.1_Silent_p.L156L|NDST2_ENST00000398701.2_5'Flank			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	156	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ACCGGTCTAGCAGTTCCCGAC	0.532																																					p.L156L		.											.	NDST2-91	0			c.G468A						.						95	92	93					10																	75567679		2203	4300	6503	SO:0001819	synonymous_variant	8509	exon3			GTCTAGCAGTTCC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.468G>A	10.37:g.75567679C>T		Somatic	147	0		WXS	Illumina GAIIx	Phase_I	191	74	NM_003635	0	0	10	16	6	Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	CCDS7335.1																																																																																			.		0.532	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		T	75567679	C	T	75567679	2	4	62	1	0	0	0	0	0	0	0	1	10295	697	25	3		3	NDST2	10	75567679	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1576	75567679	59967068	834	13202											
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	79581401	79581401	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgagcatggccttgggCcaggtcccgccgctgttgga	16	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:79581401C>T	ENST00000372391.2	-	15	2846	c.2841G>A	c.(2839-2841)tgG>tgA	p.W947*	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	947					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGCCTTGGGCCAGGTCCCGC	0.577																																					p.W947X		.											.	DLG5-98	0			c.G2841A						.						18	17	17					10																	79581401		2198	4293	6491	SO:0001587	stop_gained	9231	exon15			CTTGGGCCAGGTC	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.2841G>A	10.37:g.79581401C>T	ENSP00000361467:p.Trp947*	Somatic	47	0		WXS	Illumina GAIIx	Phase_I	68	29	NM_004747	0	0	4	7	3	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Nonsense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	41	8.917857	0.99002	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	.	.	.	5.9	5.9	0.94986	.	0.000000	0.36374	N	0.002636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2795	0.98512	0.0:1.0:0.0:0.0	.	.	.	.	X	947;496	.	ENSP00000361467:W947X	W	-	3	0	DLG5	79251407	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.281000	0.78621	2.803000	0.96430	0.609000	0.83330	TGG	.		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79581401	C	T	79581401	4	4	62	1	0	0	0	0	0	1	0	0	4572	740	26	3	2990	3	DLG5	10	79581401	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4013722	79581401	55953346	835	13203											
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	79613277	79613277	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgagtctggtcactcagGagccggctgtggagtgtgct	16	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:79613277G>A	ENST00000372391.2	-	5	704	c.699C>T	c.(697-699)ctC>ctT	p.L233L	DLG5_ENST00000372388.2_Silent_p.L233L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	233					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTCACTCAGGAGCCGGCTGT	0.647																																					p.L233L		.											.	DLG5-98	0			c.C699T						.						38	32	34					10																	79613277		2203	4300	6503	SO:0001819	synonymous_variant	9231	exon5			ACTCAGGAGCCGG	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.699C>T	10.37:g.79613277G>A		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	41	14	NM_004747	0	0	3	10	7	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			.		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79613277	G	A	79613277	2	1	62	1	0	0	0	0	0	0	0	1	4572	1161	41	3		3	DLG5	10	79613277	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	31876	79613277	55921470	836	13204											
C10orf57	80195	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	81838509	81838510	+	Frame_Shift_Del	DEL	CA	CA	-													cgaggcagtctgttctggttCacagtcatcaccctcagctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:81838509_81838510delCA	ENST00000372281.3	+	1	84_85	c.54_55delCA	c.(52-57)ttcacafs	p.T19fs	TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372274.1_Frame_Shift_Del_p.T19fs|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372275.1_Frame_Shift_Del_p.T19fs|TMEM254_ENST00000372277.3_Frame_Shift_Del_p.T19fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	19						integral component of membrane (GO:0016021)											TGTTCTGGTTCACAGTCATCAC	0.634																																					p.18_19del		.											.	.	0			c.54_55del						.																																			SO:0001589	frameshift_variant	80195	exon1			CTGGTTCACAGTC	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.54_55delCA	10.37:g.81838511_81838512delCA	ENSP00000361355:p.Thr19fs	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	89	24	NM_001270370	0	0	0	0	0	D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Del	DEL	ENST00000372281.3	37	CCDS7363.1																																																																																			.		0.634	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		-	81838510	CA	-	81838509	7	5	62	1	0	1	0	1	0	0	0	0	1614	825	29	0	56	0	C10orf57	10	81838509	Frame_Shift_Del	DEL	CA	TCGA-PK-A5HB-01A-11D-A29I-10	2225232	81838509	53696238	837	13205											
ANXA11	311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	81927056	81927056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcatcagtgatggtgCctcggcttccaaactactcg	12	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:81927056C>A	ENST00000438331.1	-	7	1057	c.575G>T	c.(574-576)gGc>gTc	p.G192V	ANXA11_ENST00000537102.1_Missense_Mutation_p.G159V|ANXA11_ENST00000265447.4_Missense_Mutation_p.G192V|ANXA11_ENST00000372231.3_Missense_Mutation_p.G192V|ANXA11_ENST00000360615.4_Missense_Mutation_p.G192V|ANXA11_ENST00000422982.3_Missense_Mutation_p.G192V|ANXA11_ENST00000535999.1_Missense_Mutation_p.G192V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	192					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			AGTGATGGTGCCTCGGCTTCC	0.577																																					p.G192V		.											.	ANXA11-91	0			c.G575T						.						62	60	61					10																	81927056		2203	4300	6503	SO:0001583	missense	311	exon6			ATGGTGCCTCGGC	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.575G>T	10.37:g.81927056C>A	ENSP00000398610:p.Gly192Val	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	108	41	NM_145868	0	1	14	44	29	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.577664	0.86645	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000445524	T;T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29;3.29	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00512	-1.1696	10	0.72032	D	0.01	.	16.8441	0.85976	0.0:1.0:0.0:0.0	.	292;192;192	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	V	192;192;192;192;192;192;192;99;159;192	ENSP00000361305:G192V;ENSP00000404412:G192V;ENSP00000398610:G192V;ENSP00000353827:G192V;ENSP00000265447:G192V;ENSP00000441748:G192V;ENSP00000441400:G159V	ENSP00000265447:G192V	G	-	2	0	ANXA11	81917036	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.347000	0.79356	2.663000	0.90544	0.561000	0.74099	GGC	.		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		A	81927056	C	A	81927056	3	1	62	1	0	0	0	0	1	0	0	0	716	739	26	3	986	3	ANXA11	10	81927056	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	88547	81927056	53607691	838	13206											
LDB3	11155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	88469694	88469694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacagccccgcagtggCcgcctcttcagcacctgcca	8	19	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:88469694C>T	ENST00000361373.4	+	8	1139	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	LDB3_ENST00000352360.5_Missense_Mutation_p.A116V|LDB3_ENST00000429277.2_Missense_Mutation_p.A378V|LDB3_ENST00000458213.2_Missense_Mutation_p.A263V|LDB3_ENST00000263066.6_Missense_Mutation_p.A263V	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						CCCGCAGTGGCCGCCTCTTCA	0.687																																					p.A378V		.											.	LDB3-92	0			c.C1133T						.						25	28	27					10																	88469694		2202	4300	6502	SO:0001583	missense	11155	exon9			CAGTGGCCGCCTC	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.1118C>T	10.37:g.88469694C>T	ENSP00000355296:p.Ala373Val	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	46	19	NM_001171610	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267425	0.10294	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.33	4.42	0.53409	.	0.000000	0.32372	N	0.006199	T	0.75838	0.3904	L	0.47716	1.5	0.22378	N	0.999155	B;B;B;B;B	0.31548	0.001;0.328;0.0;0.001;0.0	B;B;B;B;B	0.31101	0.002;0.124;0.003;0.003;0.002	T	0.65344	-0.6191	10	0.33940	T	0.23	.	10.0189	0.42031	0.0:0.8384:0.0:0.1616	.	378;310;116;373;263	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	V	310;378;263;116;263;373	ENSP00000401437:A378V;ENSP00000409148:A263V;ENSP00000263067:A116V;ENSP00000263066:A263V;ENSP00000355296:A373V	ENSP00000263066:A263V	A	+	2	0	LDB3	88459674	0.122000	0.22280	0.015000	0.15790	0.048000	0.14542	1.559000	0.36320	1.390000	0.46547	0.561000	0.74099	GCC	.		0.687	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			T	88469694	C	T	88469694	3	4	62	1	0	0	0	0	1	0	0	0	8725	739	26	3	1484	3	LDB3	10	88469694	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6542638	88469694	47065053	839	13207											
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	88683197	88683197	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgatccgtcatacgaagaTatgcgtgaggttgtgtgtgt	14	5	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:88683197T>A	ENST00000372037.3	+	12	1944	c.1407T>A	c.(1405-1407)gaT>gaA	p.D469E		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CATACGAAGATATGCGTGAGG	0.448			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.D469E	Ovarian(190;603 2086 22044 30335 47971)	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	.	BMPR1A-1619	0			c.T1407A						.						198	168	178					10																	88683197		2203	4297	6500	SO:0001583	missense	657	exon12	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	CGAAGATATGCGT	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1407T>A	10.37:g.88683197T>A	ENSP00000361107:p.Asp469Glu	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	240	101	NM_004329	0	0	15	26	11	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837999	0.32513	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.66638	-0.22	5.47	-3.87	0.04218	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	0.41511	0.1162	N	0.11023	0.085	0.58432	D	0.999993	B	0.29612	0.251	B	0.32149	0.141	T	0.12066	-1.0562	10	0.13470	T	0.59	.	14.7172	0.69277	0.0:0.5322:0.0:0.4678	.	469	P36894	BMR1A_HUMAN	E	469	ENSP00000361107:D469E	ENSP00000224764:D469E	D	+	3	2	BMPR1A	88673177	0.996000	0.38824	0.938000	0.37757	0.993000	0.82548	0.388000	0.20735	-0.674000	0.05253	0.533000	0.62120	GAT	.		0.448	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		A	88683197	T	A	88683197	3	1	62	1	0	0	0	0	1	0	0	0	1471	1403	49	5	1445	5	BMPR1A	10	88683197	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	213503	88683197	46851550	840	13208											
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	96006241	96006241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagacaacagattattgCacttcgtggcaccaaagcac	7	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:96006241C>T	ENST00000371380.3	+	7	3194	c.2959C>T	c.(2959-2961)Cac>Tac	p.H987Y	PLCE1_ENST00000371385.3_Missense_Mutation_p.H679Y|PLCE1_ENST00000371375.1_Missense_Mutation_p.H679Y|PLCE1_ENST00000260766.3_Missense_Mutation_p.H987Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	987					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGATTATTGCACTTCGTGGC	0.458																																					p.H987Y		.											.	PLCE1-229	0			c.C2959T						.						129	124	125					10																	96006241		1979	4180	6159	SO:0001583	missense	51196	exon8			TTATTGCACTTCG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2959C>T	10.37:g.96006241C>T	ENSP00000360431:p.His987Tyr	Somatic	187	0		WXS	Illumina GAIIx	Phase_I	202	111	NM_016341	0	0	2	5	3	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616380	0.46736	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.89	5.89	0.94794	.	0.110878	0.64402	D	0.000011	T	0.41073	0.1143	L	0.38531	1.155	0.47441	D	0.999421	D;P;B	0.54964	0.969;0.678;0.145	P;P;B	0.51453	0.67;0.565;0.03	T	0.03473	-1.1033	10	0.12766	T	0.61	.	20.3137	0.98647	0.0:1.0:0.0:0.0	.	987;679;987	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	987;987;679;679	ENSP00000260766:H987Y;ENSP00000360431:H987Y;ENSP00000360438:H679Y;ENSP00000360426:H679Y	ENSP00000260766:H987Y	H	+	1	0	PLCE1	95996231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.814000	0.96858	0.585000	0.79938	CAC	.		0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	96006241	C	T	96006241	3	4	62	1	0	0	0	0	1	0	0	0	12073	710	25	3	3271	3	PLCE1	10	96006241	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7323044	96006241	39528506	841	13209											
ALDH18A1	5832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	97393407	97393407	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccaaattggtcaccaaaatCtaaaaggattaaatagatgg	7	6	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:97393407C>G	ENST00000371224.2	-	6	696		c.e6-1		ALDH18A1_ENST00000371221.3_Splice_Site	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCACCAAAATCTAAAAGGATT	0.403																																					.		.											.	ALDH18A1-117	0			c.559-1G>C						.						63	56	59					10																	97393407		2203	4300	6503	SO:0001630	splice_region_variant	5832	exon7			CAAAATCTAAAAG	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.559-1G>C	10.37:g.97393407C>G		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	130	64	NM_002860	0	0	0	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Splice_Site	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.395540	0.83011	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7263	0.88366	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH18A1	97383397	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.364000	0.79526	2.760000	0.94817	0.651000	0.88453	.	.		0.403	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	Intron	G	97393407	C	G	97393407	5	3	62	1	0	0	0	0	0	0	1	0	489	927	32	3	1881	3	ALDH18A1	10	97393407	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1387166	97393407	38141340	842	13210											
ANKRD2	26287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	99338087	99338087	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctcatcgagctgcggaagAaacgcaagcagaagaagcgg	13	10	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:99338087A>T	ENST00000307518.5	+	3	628	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	ANKRD2_ENST00000455090.1_Nonsense_Mutation_p.K94*|ANKRD2_ENST00000298808.5_Nonsense_Mutation_p.K121*|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.K94*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	121					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTGCGGAAGAAACGCAAGCA	0.677																																					p.K121X		.											.	ANKRD2-90	0			c.A361T						.						31	31	31					10																	99338087		2203	4300	6503	SO:0001587	stop_gained	26287	exon3			CGGAAGAAACGCA	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.361A>T	10.37:g.99338087A>T	ENSP00000306163:p.Lys121*	Somatic	131	2		WXS	Illumina GAIIx	Phase_I	152	62	NM_001129981	0	0	0	0	0	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	A	38	7.148342	0.98096	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2745	11.8334	0.52309	0.8539:0.1461:0.0:0.0	.	.	.	.	X	121;121;94;94	.	ENSP00000298808:K121X	K	+	1	0	ANKRD2	99328077	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	4.595000	0.61048	2.015000	0.59207	0.402000	0.26972	AAA	.		0.677	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	99338087	A	T	99338087	4	4	62	1	0	0	0	0	0	1	0	0	647	247	9	5	371	5	ANKRD2	10	99338087	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1944680	99338087	36196660	843	13211											
HPS1	3257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	100202968	100202968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagaagaggacctctgcGccctcagtggccaccaagac	11	14	2	3	rs550478432		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:100202968G>A	ENST00000325103.6	-	3	263	c.30C>T	c.(28-30)ggC>ggT	p.G10G	HPS1_ENST00000361490.4_Silent_p.G10G|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.G10G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	10					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGACCTCTGCGCCCTCAGTGG	0.547									Hermansky-Pudlak syndrome				G|||	1	0.000199681	0	0	5008	,	,		18769	0		0	False		,,,				2504	0.001				p.G10G		.											.	HPS1-91	0			c.C30T						.						124	110	114					10																	100202968		2203	4300	6503	SO:0001819	synonymous_variant	3257	exon3	Familial Cancer Database	HPS, HPS1-8	CTCTGCGCCCTCA	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.30C>T	10.37:g.100202968G>A		Somatic	142	0		WXS	Illumina GAIIx	Phase_I	201	72	NM_000195	0	0	26	54	28	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																			.		0.547	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		A	100202968	G	A	100202968	2	1	62	1	0	0	0	0	0	0	0	1	7366	1074	38	1		1	HPS1	10	100202968	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	864881	100202968	35331779	844	13212											
ABCC2	1244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	101594287	101594287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcattatttatgtatctGttcaggtaggtttggaaatg	11	3	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:101594287G>A	ENST00000370449.4	+	24	3522	c.3409G>A	c.(3409-3411)Gtt>Att	p.V1137I		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1137	ABC transmembrane type-1 2. {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)	TTATGTATCTGTTCAGGTAGG	0.438																																					p.V1137I		.											.	ABCC2-91	0			c.G3409A						.						380	311	334					10																	101594287		2203	4300	6503	SO:0001583	missense	1244	exon24			GTATCTGTTCAGG	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.3409G>A	10.37:g.101594287G>A	ENSP00000359478:p.Val1137Ile	Somatic	155	0		WXS	Illumina GAIIx	Phase_I	228	94	NM_000392	0	0	0	0	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004568	0.35320	.	.	ENSG00000023839	ENST00000370449	D	0.90444	-2.67	5.27	-2.12	0.07165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.351734	0.32218	N	0.006401	T	0.80889	0.4710	N	0.16233	0.39	0.80722	D	1	B	0.15719	0.014	B	0.30495	0.116	T	0.61013	-0.7148	10	0.24483	T	0.36	-2.8048	10.4919	0.44756	0.4678:0.0:0.5322:0.0	.	1137	Q92887	MRP2_HUMAN	I	1137	ENSP00000359478:V1137I	ENSP00000359478:V1137I	V	+	1	0	ABCC2	101584277	1.000000	0.71417	0.019000	0.16419	0.753000	0.42808	1.284000	0.33249	-0.505000	0.06568	0.555000	0.69702	GTT	.		0.438	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		A	101594287	G	A	101594287	3	1	62	1	0	0	0	0	1	0	0	0	53	1377	48	3	3503	3	ABCC2	10	101594287	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1391319	101594287	33940460	845	13213											
LDB1	8861	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	103867930	103867930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttccaggggctgttggCgcccagtgcaggggagttgt	18	9	0	0	rs141161148	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:103867930C>T	ENST00000425280.1	-	11	1498	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.A350T	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	386					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGGCTGTTGGCGCCCAGTGCA	0.607																																					p.A386T		.											.	LDB1-289	0			c.G1156A						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	195	168	177		1156,1048	5	1	10	dbSNP_134	177	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	LDB1	NM_001113407.1,NM_003893.4	58,58	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign	386/412,350/376	103867930	6,13000	2203	4300	6503	SO:0001583	missense	8861	exon11			TGTTGGCGCCCAG	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1156G>A	10.37:g.103867930C>T	ENSP00000392466:p.Ala386Thr	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	188	75	NM_001113407	0	0	37	82	45	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535182	0.27475	0.0	6.98E-4	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.21734	1.99;1.99	5.93	5.02	0.67125	.	0.144593	0.64402	D	0.000006	T	0.15305	0.0369	N	0.22421	0.69	0.42278	D	0.992087	B	0.02656	0.0	B	0.01281	0.0	T	0.05989	-1.0852	10	0.13108	T	0.6	-12.1882	16.8532	0.86000	0.0:0.8714:0.1286:0.0	.	386	Q86U70	LDB1_HUMAN	T	350;386	ENSP00000354616:A350T;ENSP00000392466:A386T	ENSP00000354616:A350T	A	-	1	0	LDB1	103857920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.641000	0.37197	1.503000	0.48686	0.561000	0.74099	GCC	C|0.999;T|0.001		0.607	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		T	103867930	C	T	103867930	3	4	62	1	0	0	0	0	1	0	0	0	8723	768	27	1	83	1	LDB1	10	103867930	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2273643	103867930	31666817	846	13214											
PPRC1	23082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	103900009	103900009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggtcgactctgcccaaGccagccccatgccagttgac	9	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:103900009G>A	ENST00000278070.2	+	5	1783	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.A582T	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCTGCCCAAGCCAGCCCCAT	0.542																																					p.A582T		.											.	PPRC1-227	0			c.G1744A						.						134	115	121					10																	103900009		2203	4300	6503	SO:0001583	missense	23082	exon5			GCCCAAGCCAGCC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1744G>A	10.37:g.103900009G>A	ENSP00000278070:p.Ala582Thr	Somatic	197	0		WXS	Illumina GAIIx	Phase_I	239	98	NM_015062	0	0	10	22	12	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313897	0.81358	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.55234	0.53;0.53	4.77	4.77	0.60923	.	0.690664	0.13071	N	0.416110	T	0.55081	0.1898	L	0.29908	0.895	0.09310	N	0.999995	P;P;P	0.49783	0.883;0.928;0.546	P;P;B	0.52957	0.522;0.714;0.307	T	0.50250	-0.8850	10	0.45353	T	0.12	.	16.1091	0.81247	0.0:0.0:1.0:0.0	.	582;462;582	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	T	582	ENSP00000278070:A582T;ENSP00000399743:A582T	ENSP00000278070:A582T	A	+	1	0	PPRC1	103889999	0.667000	0.27484	0.015000	0.15790	0.007000	0.05969	2.715000	0.47210	2.594000	0.87642	0.555000	0.69702	GCC	.		0.542	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103900009	G	A	103900009	3	1	62	1	0	0	0	0	1	0	0	0	12452	971	34	3	1762	3	PPRC1	10	103900009	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	32079	103900009	31634738	847	13215											
CNNM2	54805	hgsc.bcm.edu;bcgsc.ca	37	chr10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-													cgtggatcccgatgactgtaCccccctgaaaaccatcacca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:104679763delC	ENST00000369878.4	+	1	1714	c.1526delC	c.(1525-1527)accfs	p.T509fs	CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T509fs|CNNM2_ENST00000369875.3_Frame_Shift_Del_p.T509fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	509	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GATGACTGTACCCCCCTGAAA	0.488																																					p.T509fs		.											.	CNNM2-515	0			c.1526delC						.						124	132	129					10																	104679763		2203	4300	6503	SO:0001589	frameshift_variant	54805	exon1			ACTGTACCCCCCT	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1526delC	10.37:g.104679763delC	ENSP00000358894:p.Thr509fs	Somatic	154	1		WXS	Illumina GAIIx	Phase_I	207	93	NM_199076	0	0	0	0	0	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	ENST00000369878.4	37	CCDS44474.1																																																																																			.		0.488	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		-	104679763	C	-	104679763	7	5	62	1	0	1	0	1	0	0	0	0	3620	507	18	0	1528	0	CNNM2	10	104679763	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	779754	104679763	30854984	848	13216											
NEURL	9148	hgsc.bcm.edu	37	chr10	105344837	105344837	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccctgcacagcggcgacatCctgggcctggtggtcaacgc	13	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:105344837C>A	ENST00000369780.4	+	4	1603	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	NEURL_ENST00000369777.2_Silent_p.I381I	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		398	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCGGCGACATCCTGGGCCTGG	0.716																																					p.I398I		.											.	NEURL-226	0			c.C1194A						.						8	8	8					10																	105344837		2097	4154	6251	SO:0001819	synonymous_variant	9148	exon4			CGACATCCTGGGC																												ENST00000369780.4:c.1194C>A	10.37:g.105344837C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	21	14	NM_004210	0	0	2	2	0	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	CCDS7551.1																																																																																			.		0.716	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			A	105344837	C	A	105344837	2	1	62	1	0	0	0	0	0	0	0	1	10384	845	30	3		3	NEURL	10	105344837	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	665074	105344837	30189910	849	13217											
SLK	9748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	105750547	105750547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagcatcttgtgatcacCcaaatatagtcaagcttcta	5	9	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:105750547C>T	ENST00000369755.3	+	2	810	c.265C>T	c.(265-267)Cca>Tca	p.P89S	SLK_ENST00000335753.4_Missense_Mutation_p.P89S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGTGATCACCCAAATATAGT	0.353																																					p.P89S	NSCLC(111;540 1651 1927 4474 17706)	.											.	SLK-549	0			c.C265T						.						127	118	121					10																	105750547		2203	4300	6503	SO:0001583	missense	9748	exon2			GATCACCCAAATA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.265C>T	10.37:g.105750547C>T	ENSP00000358770:p.Pro89Ser	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	83	35	NM_014720	0	0	25	44	19	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734820	0.89482	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.18502	2.21;2.21	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184962	0.48767	D	0.000165	T	0.36880	0.0983	M	0.87827	2.91	0.80722	D	1	P;P	0.44260	0.797;0.83	B;P	0.46320	0.378;0.512	T	0.23868	-1.0176	10	0.66056	D	0.02	.	17.7333	0.88384	0.0:0.878:0.122:0.0	.	89;89	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	S	89	ENSP00000336824:P89S;ENSP00000358770:P89S	ENSP00000336824:P89S	P	+	1	0	SLK	105740537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.831000	0.62752	2.941000	0.99782	0.655000	0.94253	CCA	.		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		T	105750547	C	T	105750547	3	4	62	1	0	0	0	0	1	0	0	0	14793	623	22	3	271	3	SLK	10	105750547	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	405710	105750547	29784200	850	13218											
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	106675687	106675687	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtcaatccaaccaacaaaagGaaggtaagagactgggtcag	11	8	2	1	rs267602356		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:106675687G>C	ENST00000369701.3	+	3	1019	c.792G>C	c.(790-792)agG>agC	p.R264S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	264					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)		CCAACAAAAGGAAGGTAAGAG	0.463																																					p.R264S	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.G792C						.						118	102	107					10																	106675687		2203	4300	6503	SO:0001583	missense	22986	exon3			CAAAAGGAAGGTA	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.792G>C	10.37:g.106675687G>C	ENSP00000358715:p.Arg264Ser	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	226	12	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015429	0.54468	.	.	ENSG00000156395	ENST00000369701	T	0.22743	1.94	5.49	5.49	0.81192	VPS10 (1);	0.285202	0.35040	N	0.003489	T	0.20170	0.0485	L	0.34521	1.04	0.49687	D	0.999813	B	0.29936	0.262	B	0.35607	0.206	T	0.03483	-1.1032	10	0.48119	T	0.1	.	12.688	0.56958	0.0756:0.0:0.9244:0.0	.	264	Q9UPU3	SORC3_HUMAN	S	264	ENSP00000358715:R264S	ENSP00000358715:R264S	R	+	3	2	SORCS3	106665677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.573000	0.86826	0.655000	0.94253	AGG	.		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		C	106675687	G	C	106675687	3	2	62	1	0	0	0	0	1	0	0	0	14977	1165	41	3	802	3	SORCS3	10	106675687	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	925140	106675687	28859060	851	13219											
XPNPEP1	7511	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	111633180	111633180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgtcacatctgtggtgCcatccctttccaaaaaaagg	8	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:111633180C>T	ENST00000502935.1	-	16	1516	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G442D|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G352D|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G423D					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)		ATCTGTGGTGCCATCCCTTTC	0.453																																					p.G466D		.											.	XPNPEP1-94	0			c.G1397A						.						155	137	143					10																	111633180		2203	4300	6503	SO:0001583	missense	7511	exon16			GTGGTGCCATCCC		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.1397G>A	10.37:g.111633180C>T	ENSP00000421566:p.Gly466Asp	Somatic	147	1		WXS	Illumina GAIIx	Phase_I	197	81	NM_020383	0	0	3	4	1		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	32	5.190625	0.94923	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.82	5.82	0.92795	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.94338	0.8180	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96768	0.9566	10	0.87932	D	0	-11.7458	18.2796	0.90094	0.0:1.0:0.0:0.0	.	466;423	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	D	466;352;442;423	ENSP00000421566:G466D;ENSP00000358697:G352D;ENSP00000324011:G442D;ENSP00000358694:G423D	ENSP00000324011:G442D	G	-	2	0	XPNPEP1	111623170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.506000	0.81665	2.752000	0.94435	0.655000	0.94253	GGC	.		0.453	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			T	111633180	C	T	111633180	3	4	62	1	0	0	0	0	1	0	0	0	17491	739	26	3	627	3	XPNPEP1	10	111633180	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4957493	111633180	23901567	852	13220											
ADRA2A	150	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	112838493	112838493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcacccgcgtgccacccAgccgccggggtccggacgcc	14	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:112838493A>G	ENST00000280155.2	+	1	1704	c.739A>G	c.(739-741)Agc>Ggc	p.S247G		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	232					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)	CGTGCCACCCAGCCGCCGGGG	0.741																																					p.S247G	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.A739G						.						17	17	17					10																	112838493		2167	4273	6440	SO:0001583	missense	150	exon1			CCACCCAGCCGCC	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.739A>G	10.37:g.112838493A>G	ENSP00000280155:p.Ser247Gly	Somatic	21	1		WXS	Illumina GAIIx	Phase_I	43	16	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	A	5.653	0.305061	0.10678	.	.	ENSG00000150594	ENST00000280155	T	0.73152	-0.72	3.93	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	0.522861	0.20572	N	0.089706	T	0.42200	0.1192	N	0.12637	0.245	0.29051	N	0.884488	B	0.06786	0.001	B	0.09377	0.004	T	0.11991	-1.0565	10	0.16896	T	0.51	.	2.1833	0.03880	0.5516:0.0:0.2245:0.224	.	232	P08913	ADA2A_HUMAN	G	247	ENSP00000280155:S247G	ENSP00000280155:S247G	S	+	1	0	ADRA2A	112828483	1.000000	0.71417	0.924000	0.36721	0.730000	0.41778	3.738000	0.55067	0.454000	0.26884	0.374000	0.22700	AGC	.		0.741	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		G	112838493	A	G	112838493	3	3	62	1	0	0	0	0	1	0	0	0	337	188	7	4	741	4	ADRA2A	10	112838493	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1205313	112838493	22696254	853	13221											
TCF7L2	6934	broad.mit.edu;bcgsc.ca	37	chr10	114711348	114711348	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacctccccaacggatcgctCtcgcccaccgcccgaaccgt	7	21	1	0	rs370746069	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:114711348C>G	ENST00000355995.4	+	3	870	c.363C>G	c.(361-363)ctC>ctG	p.L121L	RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_Silent_p.L121L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Silent_p.L121L|TCF7L2_ENST00000369397.4_Silent_p.L121L|TCF7L2_ENST00000352065.5_Silent_p.L121L|TCF7L2_ENST00000538897.1_Silent_p.L121L|TCF7L2_ENST00000534894.1_Silent_p.L121L|TCF7L2_ENST00000355717.4_Silent_p.L121L|TCF7L2_ENST00000545257.1_Silent_p.L121L|TCF7L2_ENST00000536810.1_Silent_p.L121L|TCF7L2_ENST00000349937.2_Silent_p.L121L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	121				NGSL -> KRSV (in Ref. 2; CAB97212/ CAB97213). {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)		ACGGATCGCTCTCGCCCACCG	0.736			T	VTI1A	colorectal																																p.L121L		.		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	TCF7L2-586	0			c.C363G						.						23	23	23					10																	114711348		2200	4299	6499	SO:0001819	synonymous_variant	6934	exon3			ATCGCTCTCGCCC	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.363C>G	10.37:g.114711348C>G		Somatic	118	2		WXS	Illumina GAIIx	Phase_I	167	73	NM_001198526	0	0	5	11	6	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																																																																																				.		0.736	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		G	114711348	C	G	114711348	2	3	62	1	0	0	0	0	0	0	0	1	15745	900	32	3		3	TCF7L2	10	114711348	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1872855	114711348	20823399	854	13222											
C10orf118	55088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	115891096	115891096	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaacaacctactttcCtgaatagtaagtaaaacaaa	3	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:115891096C>A	ENST00000369287.3	-	12	2178		c.e12-1		C10orf118_ENST00000543782.1_Splice_Site|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN												NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACCTACTTTCCTGAATAGTAA	0.358																																					.		.											.	C10orf118-92	0			c.1912-1G>T						.						136	145	142					10																	115891096		2203	4300	6503	SO:0001630	splice_region_variant	55088	exon13			ACTTTCCTGAATA																												ENST00000369287.3:c.1912-1G>T	10.37:g.115891096C>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	96	44	NM_018017	0	0	0	0	0	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Splice_Site	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810659	0.16537	.	.	ENSG00000165813	ENST00000369287;ENST00000428953;ENST00000543782;ENST00000430353	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3907	0.90483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf118	115881086	1.000000	0.71417	0.999000	0.59377	0.131000	0.20780	7.070000	0.76763	2.855000	0.98099	0.585000	0.79938	.	.		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		Intron	A	115891096	C	A	115891096	5	1	62	1	0	0	0	0	0	0	1	0	1592	695	24	3	805	3	C10orf118	10	115891096	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1179748	115891096	19643651	855	13223											
RGS10	6001	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	121259635	121259635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggggctcatgtgttaTaaattctggaagctctttta	10	5	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:121259635T>A	ENST00000369101.3	-	4	539	c.512A>T	c.(511-513)tAt>tTt	p.Y171F	RGS10_ENST00000392865.1_Missense_Mutation_p.Y165F|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369103.2_Missense_Mutation_p.Y179F			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	171					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TCATGTGTTATAAATTCTGGA	0.423																																					p.Y179F		.											.	RGS10-226	0			c.A536T						.						95	99	98					10																	121259635		2203	4300	6503	SO:0001583	missense	6001	exon5			GTGTTATAAATTC	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.512A>T	10.37:g.121259635T>A	ENSP00000358097:p.Tyr171Phe	Somatic	31	1		WXS	Illumina GAIIx	Phase_I	34	17	NM_001005339	0	0	12	16	4	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.840569	0.91197	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.51325	0.76;0.71;0.73	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.61073	0.2318	L	0.51422	1.61	0.45502	D	0.99846	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.77557	0.98;0.99;0.956	T	0.54708	-0.8253	10	0.15952	T	0.53	-12.5035	16.1025	0.81194	0.0:0.0:0.0:1.0	.	179;165;171	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	F	165;179;171	ENSP00000376605:Y165F;ENSP00000358099:Y179F;ENSP00000358097:Y171F	ENSP00000358097:Y171F	Y	-	2	0	RGS10	121249625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	2.254000	0.74563	0.533000	0.62120	TAT	.		0.423	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		A	121259635	T	A	121259635	3	1	62	1	0	0	0	0	1	0	0	0	13338	1406	49	5	13	5	RGS10	10	121259635	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5368539	121259635	14275112	856	13224											
FGFR2	2263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	123324025	123324025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttacttactcttgttgtTactgttctcactgacaaaat	5	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:123324025T>C	ENST00000358487.5	-	4	717	c.445A>G	c.(445-447)Aac>Gac	p.N149D	FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.N149D|FGFR2_ENST00000369056.1_Missense_Mutation_p.N149D|FGFR2_ENST00000346997.2_Missense_Mutation_p.N149D|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.N149D|FGFR2_ENST00000351936.6_Missense_Mutation_p.N149D|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.N149D|FGFR2_ENST00000357555.5_Missense_Mutation_p.N60D|FGFR2_ENST00000359354.2_Missense_Mutation_p.N149D|FGFR2_ENST00000360144.3_Missense_Mutation_p.N60D	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	149					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)	CTCTTGTTGTTACTGTTCTCA	0.502		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																												p.N149D		.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	FGFR2-2607	0			c.A445G						.						262	204	223					10																	123324025		2203	4300	6503	SO:0001583	missense	2263	exon3	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	TGTTGTTACTGTT	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.445A>G	10.37:g.123324025T>C	ENSP00000351276:p.Asn149Asp	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	128	55	NM_001144914	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	T	8.785	0.929160	0.18131	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.17;-1.24;-1.16;-1.21;-1.16;-1.15;-1.15;-1.15;-1.14;-1.14;-1.16;-0.63	3.67	1.35	0.21983	.	0.216592	0.39475	N	0.001356	T	0.68054	0.2959	M	0.64997	1.995	0.27034	N	0.964175	B;B;B;B;B;B;B;B;B;B	0.21821	0.061;0.001;0.017;0.002;0.015;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.23150	0.044;0.003;0.028;0.004;0.032;0.003;0.0;0.002;0.003;0.002	T	0.51841	-0.8654	10	0.15066	T	0.55	.	7.0089	0.24851	0.0:0.1885:0.0:0.8115	.	168;168;149;168;149;60;149;168;60;149	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802-21;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	D	60;149;149;149;149;149;149;149;60;149;149;60;149	ENSP00000350166:N60D;ENSP00000358057:N149D;ENSP00000351276:N149D;ENSP00000358056:N149D;ENSP00000263451:N149D;ENSP00000410294:N149D;ENSP00000309878:N149D;ENSP00000353262:N60D;ENSP00000358052:N149D;ENSP00000358054:N149D;ENSP00000337665:N60D;ENSP00000352309:N149D	ENSP00000337665:N60D	N	-	1	0	FGFR2	123314015	1.000000	0.71417	0.973000	0.42090	0.427000	0.31564	2.249000	0.43169	0.288000	0.22398	0.523000	0.50628	AAC	.		0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		C	123324025	T	C	123324025	3	2	62	1	0	0	0	0	1	0	0	0	5888	1754	61	4	2336	4	FGFR2	10	123324025	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2064390	123324025	12210722	857	13225											
HMX2	3167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	124909596	124909596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacccgggaagcaacctctCggccttacctctctacaacc	6	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:124909596C>T	ENST00000339992.3	+	2	1036	c.779C>T	c.(778-780)tCg>tTg	p.S260L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	260					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCAACCTCTCGGCCTTACCT	0.687																																					p.S260L		.											.	HMX2-90	0			c.C779T						.						9	11	10					10																	124909596		2183	4265	6448	SO:0001583	missense	3167	exon2			ACCTCTCGGCCTT		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.779C>T	10.37:g.124909596C>T	ENSP00000341108:p.Ser260Leu	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	74	29	NM_005519	0	0	0	1	1	B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413986	0.83449	.	.	ENSG00000188816	ENST00000339992	D	0.90444	-2.67	5.3	5.3	0.74995	.	0.126603	0.53938	D	0.000041	D	0.83681	0.5307	L	0.29908	0.895	0.53688	D	0.999979	P	0.51653	0.947	B	0.38428	0.273	T	0.82422	-0.0465	10	0.17832	T	0.49	.	17.3148	0.87220	0.0:1.0:0.0:0.0	.	260	A2RU54	HMX2_HUMAN	L	260	ENSP00000341108:S260L	ENSP00000341108:S260L	S	+	2	0	HMX2	124899586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.741000	0.93983	0.655000	0.94253	TCG	.		0.687	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		T	124909596	C	T	124909596	3	4	62	1	0	0	0	0	1	0	0	0	7274	893	31	1	785	1	HMX2	10	124909596	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1585571	124909596	10625151	858	13226											
DHX32	55760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127555708	127555708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatatcacgcccccgtgCtggtagtggatggaaagaca	13	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:127555708C>T	ENST00000284690.3	-	2	817	c.327G>A	c.(325-327)caG>caA	p.Q109Q	DHX32_ENST00000284688.6_Silent_p.Q109Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	109	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGCCCCCGTGCTGGTAGTGGA	0.502																																					p.Q109Q		.											.	DHX32-290	0			c.G327A						.						87	74	78					10																	127555708		2203	4300	6503	SO:0001819	synonymous_variant	55760	exon2			CCCGTGCTGGTAG		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.327G>A	10.37:g.127555708C>T		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	138	53	NM_018180	0	0	19	35	16	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																			.		0.502	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		T	127555708	C	T	127555708	2	4	62	1	0	0	0	0	0	0	0	1	4519	796	28	3		3	DHX32	10	127555708	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2646112	127555708	7979039	859	13227											
PWWP2B	170394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	134219477	134219477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggactgtggccgtgggGgacatcgtctggggtaagat	19	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:134219477G>A	ENST00000305233.5	+	2	1532	c.1473G>A	c.(1471-1473)ggG>ggA	p.G491G	PWWP2B_ENST00000368609.4_Silent_p.G491G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	491	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCCGTGGGGGACATCGTCT	0.637																																					p.G491G		.											.	PWWP2B-90	0			c.G1473A						.						167	162	164					10																	134219477		2202	4300	6502	SO:0001819	synonymous_variant	170394	exon2			CGTGGGGGACATC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1473G>A	10.37:g.134219477G>A		Somatic	263	1		WXS	Illumina GAIIx	Phase_I	659	431	NM_001098637	1	0	41	131	89	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			.		0.637	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		A	134219477	G	A	134219477	2	1	62	1	0	0	0	0	0	0	0	1	12891	1219	43	3		3	PWWP2B	10	134219477	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6663769	134219477	1315270	860	13228											
GPR123	84435	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	134942688	134942688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcccccgcagctcgcgCacagacagcccccccagctc	10	22	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:134942688C>T	ENST00000392607.3	+	7	1792	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	GPR123_ENST00000607359.1_Silent_p.R1171R|GPR123_ENST00000392606.2_Silent_p.R355R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	452					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)		GCAGCTCGCGCACAGACAGCC	0.692																																					p.R452R		.											.	GPR123-90	0			c.C1356T						.						10	11	11					10																	134942688		2050	4073	6123	SO:0001819	synonymous_variant	84435	exon7			CTCGCGCACAGAC	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.1356C>T	10.37:g.134942688C>T		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	236	114	NM_001083909	0	0	0	0	0	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																			.		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			T	134942688	C	T	134942688	2	4	62	1	0	0	0	0	0	0	0	1	6663	697	25	3		3	GPR123	10	134942688	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	723211	134942688	592059	861	13229											
ADAM8	101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	135086884	135086884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacacggcgtgccgtccGccctcgccaccttcatccag	10	18	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:135086884G>A	ENST00000445355.3	-	6	497	c.447C>T	c.(445-447)ggC>ggT	p.G149G	ADAM8_ENST00000415217.3_Silent_p.G149G|ADAM8_ENST00000485491.2_Silent_p.G110G|ADAM8_ENST00000559180.1_5'UTR	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	149					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CGTGCCGTCCGCCCTCGCCAC	0.697																																					p.G149G		.											.	ADAM8-90	0			c.C447T						.						13	13	13					10																	135086884		2085	4138	6223	SO:0001819	synonymous_variant	101	exon6			CCGTCCGCCCTCG	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.447C>T	10.37:g.135086884G>A		Somatic	114	0		WXS	Illumina GAIIx	Phase_I	242	100	NM_001164489	0	0	0	0	0	B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	CCDS31319.2																																																																																			.		0.697	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		A	135086884	G	A	135086884	2	1	62	1	0	0	0	0	0	0	0	1	252	1074	38	1		1	ADAM8	10	135086884	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	144196	135086884	447863	862	13230											
PHRF1	57661	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	608624	608625	+	Frame_Shift_Ins	INS	-	-	GACCGCTCCAG													agagccggcggtcctccagtINSgaccgctccagcagccgaga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:608624_608625insGACCGCTCCAG	ENST00000264555.5	+	14	3296_3297	c.3168_3169insGACCGCTCCAG	c.(3169-3171)gacfs	p.-1057fs	PHRF1_ENST00000416188.2_Frame_Shift_Ins_p.-1056fs|PHRF1_ENST00000533464.1_Frame_Shift_Ins_p.-1053fs|PHRF1_ENST00000413872.2_Frame_Shift_Ins_p.-1055fs	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1						mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTCCTCCAGTGACCGCTCCAG	0.673																																					p.S1055fs		.											.	PHRF1-22	0			c.3165_3166insGACCGCTCCAG						.																																			SO:0001589	frameshift_variant	57661	exon14			CTCCAGTGACCGC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3169_3179dupGACCGCTCCAG	11.37:g.608625_608635dupGACCGCTCCAG	ENSP00000264555:p.Asp1057fs	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	67	10	NM_020901	0	0	0	0	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Frame_Shift_Ins	INS	ENST00000264555.5	37																																																																																				.		0.673	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		GACCGCTCCAG	608625	-	GACCGCTCCAG	608624	7	5	62	1	0	1	1	0	0	0	0	0	11900	1693	59	0	3215	0	PHRF1	11	608624	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10		608624	134397892	863	13231											
PHRF1	57661	broad.mit.edu	37	chr11	610978	610978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagaagctgcacatgcagGagcgtgctgtggaggaggtg	18	6	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:610978G>A	ENST00000264555.5	+	17	4830	c.4702G>A	c.(4702-4704)Gag>Aag	p.E1568K	PHRF1_ENST00000416188.2_Missense_Mutation_p.E1567K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E1564K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E1566K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1568					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCACATGCAGGAGCGTGCTGT	0.592																																					p.E1567K		.											.	PHRF1-22	0			c.G4699A						.						87	87	87					11																	610978		2201	4300	6501	SO:0001583	missense	57661	exon17			ATGCAGGAGCGTG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4702G>A	11.37:g.610978G>A	ENSP00000264555:p.Glu1568Lys	Somatic	181	0		WXS	Illumina GAIIx	Phase_I	133	3	NM_020901	0	0	11	11	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.162760	0.57368	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.34	4.34	0.51931	.	0.000000	0.36409	N	0.002609	T	0.80994	0.4731	M	0.82193	2.58	0.50467	D	0.999872	D;D;D;D	0.76494	0.982;0.999;0.998;0.996	D;D;D;D	0.85130	0.952;0.997;0.975;0.944	D	0.84824	0.0798	10	0.87932	D	0	-37.3492	17.7367	0.88395	0.0:0.0:1.0:0.0	.	1564;1566;1567;1568	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	1568;1566;1567;1564	ENSP00000264555:E1568K;ENSP00000388589:E1566K;ENSP00000410626:E1567K;ENSP00000431870:E1564K	ENSP00000264555:E1568K	E	+	1	0	PHRF1	600978	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	7.978000	0.88095	2.370000	0.80446	0.561000	0.74099	GAG	.		0.592	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	610978	G	A	610978	3	1	62	1	0	0	0	0	1	0	0	0	11900	1175	41	3	4761	3	PHRF1	11	610978	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2354	610978	134395538	864	13232											
DRD4	1815	hgsc.bcm.edu	37	chr11	637463	637463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgctcgcggggaactcGctcgtgtgcgtgagcgtggc	19	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:637463G>A	ENST00000176183.5	+	1	171	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	53					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CGGGGAACTCGCTCGTGTGCG	0.751																																					p.S53S		.											.	DRD4-90	0			c.G159A						.						14	10	11					11																	637463		2123	4147	6270	SO:0001819	synonymous_variant	1815	exon1			GAACTCGCTCGTG	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.159G>A	11.37:g.637463G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	26	19	NM_000797	0	0	0	2	2	B0M0J7|Q7Z7Q5|Q8NGM5	Silent	SNP	ENST00000176183.5	37	CCDS7710.1																																																																																			.		0.751	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		A	637463	G	A	637463	2	1	62	1	0	0	0	0	0	0	0	1	4773	1074	38	1		1	DRD4	11	637463	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	26485	637463	134369053	865	13233											
DEAF1	10522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	686974	686974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtaccagttctccccctGcttgatgcaccgtccccggc	8	18	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:686974G>A	ENST00000382409.3	-	5	1172	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	230	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				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)		TTCTCCCCCTGCTTGATGCAC	0.612																																					p.Q230X		.											.	DEAF1-90	0			c.C688T						.						170	121	138					11																	686974		2203	4300	6503	SO:0001587	stop_gained	10522	exon5			CCCCCTGCTTGAT	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.688C>T	11.37:g.686974G>A	ENSP00000371846:p.Gln230*	Somatic	166	1		WXS	Illumina GAIIx	Phase_I	116	76	NM_021008	0	0	6	8	2	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440790	0.97568	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	.	.	.	5.07	5.07	0.68467	.	0.296515	0.33854	N	0.004487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.7997	17.5987	0.88020	0.0:0.0:1.0:0.0	.	.	.	.	X	230;216;153	.	ENSP00000353043:Q216X	Q	-	1	0	DEAF1	676974	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.507000	0.97996	2.507000	0.84556	0.655000	0.94253	CAG	.		0.612	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		A	686974	G	A	686974	4	1	62	1	0	0	0	0	0	1	0	0	4389	1328	46	3	1041	3	DEAF1	11	686974	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	49511	686974	134319542	866	13234											
MUC5B	727897	hgsc.bcm.edu	37	chr11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgtacagctcagcgActggagggacggcgtctgca	16	11	2	0	rs202127660		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21	24	23					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	96	9	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1253980	A	G	1253980	3	3	62	1	0	0	0	0	1	0	0	0	10017	275	10	4	2120	4	MUC5B	11	1253980	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	567006	1253980	133752536	867	13235											
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5510498	5510498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgagcatatgggcattGcccgactggcctgtgccaac	12	12	0	1	rs571241475|rs386750177	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:5510498G>A	ENST00000322641.5	+	1	584	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	188					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGGCATTGCCCGACTGGC	0.512																																					p.A188T		.											.	OR52D1-68	0			c.G562A						.						298	260	273					11																	5510498		2201	4297	6498	SO:0001583	missense	390066	exon1			GGCATTGCCCGAC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.562G>A	11.37:g.5510498G>A	ENSP00000326232:p.Ala188Thr	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	67	53	NM_001005163	0	0	0	0	0	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444304	0.63178	.	.	ENSG00000181609	ENST00000322641	T	0.00099	8.73	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.00468	0.0015	M	0.79343	2.45	0.30981	N	0.722485	D	0.89917	1.0	D	0.97110	1.0	T	0.50389	-0.8834	10	0.87932	D	0	.	12.4774	0.55823	0.0794:0.0:0.9206:0.0	.	188	Q9H346	O52D1_HUMAN	T	188	ENSP00000326232:A188T	ENSP00000326232:A188T	A	+	1	0	OR52D1	5467074	0.000000	0.05858	0.999000	0.59377	0.685000	0.39939	-0.013000	0.12678	2.906000	0.99361	0.655000	0.94253	GCC	.		0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		A	5510498	G	A	5510498	3	1	62	1	0	0	0	0	1	0	0	0	11153	1319	46	3	564	3	OR52D1	11	5510498	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4256518	5510498	129496018	868	13236											
DNHD1	144132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6566347	6566347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttcctcatgtgcatgCtgtgagcttcaggtcttgcc	10	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:6566347C>T	ENST00000527990.2	+	19	4178	c.4178C>T	c.(4177-4179)gCt>gTt	p.A1393V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A1393V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1393					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CATGTGCATGCTGTGAGCTTC	0.542																																					p.A1393V		.											.	DNHD1-24	0			c.C4178T						.						104	92	96					11																	6566347		692	1591	2283	SO:0001583	missense	144132	exon21			TGCATGCTGTGAG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4178C>T	11.37:g.6566347C>T	ENSP00000436180:p.Ala1393Val	Somatic	186	0		WXS	Illumina GAIIx	Phase_I	172	134	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782739	0.49891	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.61392	0.11;0.11	5.01	3.06	0.35304	Dynein heavy chain, domain-2 (1);	0.593097	0.17249	N	0.181234	T	0.46464	0.1394	L	0.39898	1.24	0.27475	N	0.952755	P	0.38300	0.626	B	0.40782	0.34	T	0.30504	-0.9976	10	0.31617	T	0.26	.	7.5048	0.27538	0.3634:0.497:0.1396:0.0	.	1393	Q96M86	DNHD1_HUMAN	V	1393	ENSP00000254579:A1393V;ENSP00000436180:A1393V	ENSP00000254579:A1393V	A	+	2	0	DNHD1	6522923	0.071000	0.21146	0.957000	0.39632	0.737000	0.42083	0.615000	0.24329	2.597000	0.87782	0.563000	0.77884	GCT	.		0.542	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6566347	C	T	6566347	3	4	62	1	0	0	0	0	1	0	0	0	4682	797	28	3	4261	3	DNHD1	11	6566347	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1055849	6566347	128440169	869	13237											
LDHA	3939	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	18428915	18428915	+	3'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcctttttatctgatcTgtgattaaagcagtaatatt	7	5	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18428915T>G	ENST00000422447.3	+	0	1359				LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000396222.2_Missense_Mutation_p.C273G|LDHA_ENST00000430553.2_3'UTR|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000227157.4_3'UTR	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A						cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TTATCTGATCTGTGATTAAAG	0.358																																					p.C273G		.											.	LDHA-650	0			c.T817G						.						93	68	76					11																	18428915		692	1591	2283	SO:0001624	3_prime_UTR_variant	3939	exon7			CTGATCTGTGATT	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.*87T>G	11.37:g.18428915T>G		Somatic	67	1		WXS	Illumina GAIIx	Phase_I	46	29	NM_001165415	0	0	26	1655	1629	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498353	0.26861	.	.	ENSG00000134333	ENST00000396222	D	0.82803	-1.65	4.67	2.15	0.27550	.	.	.	.	.	T	0.76659	0.4018	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.65397	-0.6178	6	0.40728	T	0.16	.	5.2131	0.15329	0.1568:0.0902:0.0:0.753	.	.	.	.	G	273	ENSP00000379524:C273G	ENSP00000379524:C273G	C	+	1	0	LDHA	18385491	0.001000	0.12720	0.012000	0.15200	0.961000	0.63080	0.908000	0.28545	0.765000	0.33221	0.369000	0.22263	TGT	.		0.358	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		G	18428915	T	G	18428915	1	3	62	0	1	0	0	0	0	0	0	0	8726	1580	55	5		5	LDHA	11	18428915	3'UTR	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	11862568	18428915	116577601	870	13238											
IGSF22	144110	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	18728522	18728522	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactgtcaccgatttcAttccgagccaccactctgaa	7	15	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18728522A>T	ENST00000280734.2	+	0	3595				RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'Flank|IGSF22_ENST00000513874.1_Missense_Mutation_p.N1173K	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CACCGATTTCATTCCGAGCCA	0.557																																					p.N1173K		.											.	IGSF22-140	0			c.T3519A						.						113	92	98					11																	18728522		692	1591	2283	SO:0001628	intergenic_variant	283284	exon21			GATTTCATTCCGA	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4			11.37:g.18728522A>T		Somatic	152	0		WXS	Illumina GAIIx	Phase_I	121	96	NM_173588	0	0	1	1	0	Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.441054	0.63067	.	.	ENSG00000179057	ENST00000513874	T	0.31510	1.49	3.77	-2.72	0.05968	.	.	.	.	.	T	0.62780	0.2456	H	0.95850	3.73	0.22081	N	0.999374	D	0.89917	1.0	D	0.77557	0.99	T	0.56007	-0.8050	9	0.87932	D	0	.	10.1232	0.42634	0.4682:0.0:0.5318:0.0	.	1173	D6RGV7	.	K	1173	ENSP00000421191:N1173K	ENSP00000421191:N1173K	N	-	3	2	IGSF22	18685098	0.977000	0.34250	0.164000	0.22755	0.966000	0.64601	0.161000	0.16481	-0.439000	0.07222	0.383000	0.25322	AAT	.		0.557	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		T	18728522	A	T	18728522	1	4	62	0	1	0	0	0	0	0	0	0	7627	214	8	5		5	IGSF22	11	18728522	IGR	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	299607	18728522	116277994	871	13239											
PTPN5	84867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18765655	18765655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggatctgagggcggCgagggaggagggggtggcgg	25	5	1	2	rs150000507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18765655C>T	ENST00000358540.2	-	4	619	c.189G>A	c.(187-189)tcG>tcA	p.S63S	PTPN5_ENST00000396167.2_Silent_p.S63S|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396170.1_Silent_p.S63S|PTPN5_ENST00000396171.4_Silent_p.S63S|PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Silent_p.S39S	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	63					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTGAGGGCGGCGAGGGAGGAG	0.647													C|||	1	0.000199681	0	0	5008	,	,		17104	0		0	False		,,,				2504	0.001				p.S63S		.											.	PTPN5-229	0			c.G189A						.	C	,,	1,4397	2.1+/-5.4	0,1,2198	106	113	110		189,189,189	-0.3	0.3	11	dbSNP_134	110	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN5	NM_001039970.1,NM_006906.1,NM_032781.3	,,	0,3,6489	TT,TC,CC		0.0233,0.0227,0.0231	,,	63/534,63/566,63/566	18765655	3,12981	2199	4293	6492	SO:0001819	synonymous_variant	84867	exon4			GGGCGGCGAGGGA	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.189G>A	11.37:g.18765655C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	42	26	NM_032781	0	0	0	0	0	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	CCDS7845.1																																																																																			C|0.999;T|0.001		0.647	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		T	18765655	C	T	18765655	2	4	62	1	0	0	0	0	0	0	0	1	12836	755	27	1		1	PTPN5	11	18765655	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	37133	18765655	116240861	872	13240											
WT1	7490	hgsc.bcm.edu	37	chr11	32456694	32456694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggagcccatttgctgCggctcagacccggacgcccc	12	17	1	1	rs2234582	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1-AS_ENST00000395900.1_RNA|WT1_ENST00000448076.3_Silent_p.P66P|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2	3	3		198,198,198	1.2	0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		A	32456694	C	A	32456694	2	1	62	1	0	0	0	0	0	0	0	1	17457	755	27	2		2	WT1	11	32456694	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	13691039	32456694	102549822	873	13241											
AGBL2	79841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	47701524	47701524	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaaaccccatttttaCcttcatttggtcaggatcac	5	11	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:47701524C>T	ENST00000525123.1	-	13	2302		c.e13+1		AGBL2_ENST00000357610.3_Splice_Site|AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000529712.1_Splice_Site|AGBL2_ENST00000528244.1_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							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						CCCATTTTTACCTTCATTTGG	0.458																																					.		.											.	AGBL2-92	0			c.2016+1G>A						.						99	94	96					11																	47701524		2201	4298	6499	SO:0001630	splice_region_variant	79841	exon14			TTTTTACCTTCAT		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.2016+1G>A	11.37:g.47701524C>T		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	32	23	NM_024783	0	0	0	0	0	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Splice_Site	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104028	0.76983	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6467	0.88150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGBL2	47658100	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.330000	0.65899	2.451000	0.82905	0.555000	0.69702	.	.		0.458	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	Intron	T	47701524	C	T	47701524	5	4	62	1	0	0	0	0	0	0	1	0	376	521	18	3	719	3	AGBL2	11	47701524	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	15244830	47701524	87304992	874	13242											
OR5M11	219487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	56310506	56310506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacatctgcggggttgcAtttgatgtatagcacaaatc	11	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:56310506A>G	ENST00000528616.2	-	1	251	c.228T>C	c.(226-228)aaT>aaC	p.N76N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	76						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						GCGGGGTTGCATTTGATGTAT	0.438																																					p.N76N		.											.	.	0			c.T228C						.						129	128	129					11																	56310506		2155	4273	6428	SO:0001819	synonymous_variant	219487	exon1			GGTTGCATTTGAT	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.228T>C	11.37:g.56310506A>G		Somatic	157	0		WXS	Illumina GAIIx	Phase_I	102	77	NM_001005245	0	0	0	0	0	B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	CCDS53629.1																																																																																			.		0.438	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		G	56310506	A	G	56310506	2	3	62	1	0	0	0	0	0	0	0	1	11213	214	8	4		4	OR5M11	11	56310506	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	8608982	56310506	78696010	875	13243											
DDB1	1642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61099071	61099071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacatgcccacctctttgaCgggccgaagcccctcggcgg	11	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:61099071C>T	ENST00000301764.7	-	2	551	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	DAK_ENST00000394900.3_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.V52I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	52	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCTCTTTGACGGGCCGAAGC	0.517								Nucleotide excision repair (NER)																													p.V52I		.											.	DDB1-661	0			c.G154A						.						107	89	95					11																	61099071		2203	4299	6502	SO:0001583	missense	1642	exon2			CTTTGACGGGCCG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.154G>A	11.37:g.61099071C>T	ENSP00000301764:p.Val52Ile	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	91	18	NM_001923	0	0	59	88	29	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111767	0.56398	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000543658;ENST00000542337;ENST00000543627	T;T	0.46451	1.44;0.87	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.31526	0.94	0.35913	D	0.831236	P;B;B;B	0.45428	0.858;0.012;0.007;0.002	B;B;B;B	0.41894	0.369;0.006;0.003;0.003	T	0.23404	-1.0189	10	0.07990	T	0.79	-27.8874	19.0104	0.92871	0.0:1.0:0.0:0.0	.	52;52;52;52	B4DG00;F5GY55;B7Z2A1;Q16531	.;.;.;DDB1_HUMAN	I	52	ENSP00000301764:V52I;ENSP00000388705:V52I	ENSP00000301764:V52I	V	-	1	0	DDB1	60855647	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	7.766000	0.85320	2.487000	0.83934	0.655000	0.94253	GTC	.		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		T	61099071	C	T	61099071	3	4	62	1	0	0	0	0	1	0	0	0	4332	536	19	1	3372	1	DDB1	11	61099071	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4788565	61099071	73907445	876	13244											
BEST1	7439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61723382	61723382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgtcagcaccgcagTctacaagcgcttccccagcg	11	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:61723382T>A	ENST00000378043.4	+	4	1083	c.440T>A	c.(439-441)gTc>gAc	p.V147D	BEST1_ENST00000449131.2_Missense_Mutation_p.V87D|BEST1_ENST00000435278.2_Missense_Mutation_p.V147D|BEST1_ENST00000378042.3_Missense_Mutation_p.V87D|BEST1_ENST00000526988.1_Missense_Mutation_p.V41D|BEST1_ENST00000534553.1_Missense_Mutation_p.V41D|BEST1_ENST00000301774.9_5'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	147					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGCACCGCAGTCTACAAGCGC	0.701																																					p.V147D		.											.	BEST1-90	0			c.T440A						.						13	13	13					11																	61723382		2058	4023	6081	SO:0001583	missense	7439	exon4			CCGCAGTCTACAA	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.440T>A	11.37:g.61723382T>A	ENSP00000367282:p.Val147Asp	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	139	95	NM_004183	0	0	0	3	3	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047212	0.93740	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000534553;ENST00000435278;ENST00000449131;ENST00000526988	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.984;0.997;0.999;1.0;0.999	D	0.98327	1.0531	10	0.87932	D	0	-30.9223	14.6133	0.68531	0.0:0.0:0.0:1.0	.	41;147;87;87;147;87	B7Z1N8;B7Z375;B7Z336;O76090-4;O76090;O76090-3	.;.;.;.;BEST1_HUMAN;.	D	147;87;41;147;87;41	ENSP00000367282:V147D;ENSP00000367281:V87D;ENSP00000431189:V41D;ENSP00000408390:V147D;ENSP00000399709:V87D;ENSP00000433195:V41D	ENSP00000367281:V87D	V	+	2	0	BEST1	61479958	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	6.171000	0.71926	1.928000	0.55862	0.379000	0.24179	GTC	.		0.701	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		A	61723382	T	A	61723382	3	1	62	1	0	0	0	0	1	0	0	0	1405	1667	58	5	450	5	BEST1	11	61723382	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	624311	61723382	73283134	877	13245											
SLC22A25	387601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62931536	62931536	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttccagtgattccagtAgctcttccccttggagtaaa	8	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:62931536A>C	ENST00000306494.6	-	9	1403	c.1404T>G	c.(1402-1404)gcT>gcG	p.A468A	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGATTCCAGTAGCTCTTCCCC	0.408																																					p.A468A		.											.	SLC22A25-72	0			c.T1404G						.						114	126	122					11																	62931536		2201	4298	6499	SO:0001819	synonymous_variant	387601	exon9			TCCAGTAGCTCTT	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1404T>G	11.37:g.62931536A>C		Somatic	236	0		WXS	Illumina GAIIx	Phase_I	152	116	NM_199352	0	0	0	0	0		Silent	SNP	ENST00000306494.6	37	CCDS31592.1																																																																																			.		0.408	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		C	62931536	A	C	62931536	2	2	62	1	0	0	0	0	0	0	0	1	14499	407	15	5		5	SLC22A25	11	62931536	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1208154	62931536	72074980	878	13246											
SLC22A12	116085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64368345	64368345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctgagtggcctggcCgcactgcttctgcccgagac	13	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64368345C>T	ENST00000377574.1	+	9	2280	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	SLC22A12_ENST00000377572.1_Silent_p.A403A|SLC22A12_ENST00000377567.2_Silent_p.A403A|SLC22A12_ENST00000473690.1_Silent_p.A290A|SLC22A12_ENST00000336464.7_Silent_p.A477A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	511					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)	GTGGCCTGGCCGCACTGCTTC	0.672																																					p.A511A		.											.	SLC22A12-91	0			c.C1533T						.						91	92	92					11																	64368345		2201	4297	6498	SO:0001819	synonymous_variant	116085	exon9			CCTGGCCGCACTG	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.1533C>T	11.37:g.64368345C>T		Somatic	52	0		WXS	Illumina GAIIx	Phase_I	37	33	NM_144585	0	0	0	0	0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																			.		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		T	64368345	C	T	64368345	2	4	62	1	0	0	0	0	0	0	0	1	14488	639	23	1		1	SLC22A12	11	64368345	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1436809	64368345	70638171	879	13247											
MEN1	4221	hgsc.bcm.edu	37	chr11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-													gacagtcccaggaggcttccGggggggtcctgacactgcac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64572093delG	ENST00000337652.1	-	10	2064	c.1561delC	c.(1561-1563)cggfs	p.R521fs	MEN1_ENST00000377326.3_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000443283.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.R516fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.R481fs|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.R516fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.R461fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Frame_Shift_Del_p.R521fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	521					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGAGGCTTCCGGGGGGGTCCT	0.716			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.R521fs	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	3	Insertion - Frameshift(3)	parathyroid(2)|large_intestine(1)	c.1561delC	GRCh37	CD972318|CM080439	MEN1	D|M		.						14	15	15					11																	64572093		2198	4290	6488	SO:0001589	frameshift_variant	4221	exon10	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	GCTTCCGGGGGGG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1561delC	11.37:g.64572093delG	ENSP00000337088:p.Arg521fs	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	25	18	NM_130800	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	CCDS8083.1																																																																																			.		0.716	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			-	64572093	G	-	64572093	7	5	62	1	0	1	0	1	0	0	0	0	9510	1115	39	0	290	0	MEN1	11	64572093	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	203748	64572093	70434423	880	13248											
ATG2A	23130	bcgsc.ca	37	chr11	64665394	64665394	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagtggtctctacgccTtcggcctgcccttccagggg	12	15	1	0	rs61741079	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64665394T>C	ENST00000377264.3	-	35	5023	c.4911A>G	c.(4909-4911)gaA>gaG	p.E1637E	ATG2A_ENST00000421419.2_Silent_p.E1639E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1637					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						TCTCTACGCCTTCGGCCTGCC	0.672													C|||	430	0.0858626	0.2194	0.0548	5008	,	,		15970	0		0.0467	False		,,,				2504	0.0562				p.E1637E		.											.	ATG2A-69	0			c.A4911G						.	C		872,3528		98,676,1426	33	39	37		4911	3.5	0	11	dbSNP_129	37	425,8167		12,401,3883	no	coding-synonymous	ATG2A	NM_015104.2		110,1077,5309	CC,CT,TT		4.9465,19.8182,9.9831		1637/1939	64665394	1297,11695	2200	4296	6496	SO:0001819	synonymous_variant	23130	exon35			TACGCCTTCGGCC		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.4911A>G	11.37:g.64665394T>C		Somatic	28	0		WXS	Illumina GAIIx	Phase_I	35	4	NM_015104	0	0	22	22	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	151	0.06913919413919414	96	0.1951219512195122	22	0.06077348066298342	0	0.0	33	0.04353562005277045	C	3.975	-0.007584	0.07773	0.198182	0.049465	ENSG00000110046	ENST00000418259	.	.	.	4.38	3.46	0.39613	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.31976	P	0.606561	.	.	.	.	.	.	T	0.10382	-1.0632	3	.	.	.	.	6.8082	0.23788	0.0:0.7876:0.0:0.2124	.	.	.	.	G	1441	.	.	R	-	1	2	ATG2A	64421970	0.007000	0.16637	0.020000	0.16555	0.007000	0.05969	1.715000	0.37971	0.604000	0.29930	-0.215000	0.12644	AGG	T|0.906;C|0.094		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		C	64665394	T	C	64665394	2	2	62	1	0	0	0	0	0	0	0	1	1094	1606	56	4		4	ATG2A	11	64665394	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	93301	64665394	70341122	881	13249											
TCIRG1	10312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	67817504	67817504	+	Frame_Shift_Del	DEL	G	G	-													gctccgatgaggaaaaggcaGggggcctggatgatgaagag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:67817504delG	ENST00000265686.3	+	17	2197	c.2089delG	c.(2089-2091)gggfs	p.G698fs	RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.G482fs|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	698					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGAAAAGGCAGGGGGCCTGGA	0.662																																					p.G697fs		.											.	TCIRG1-227	0			c.2089delG						.						41	42	42					11																	67817504		2199	4294	6493	SO:0001589	frameshift_variant	10312	exon17			AAGGCAGGGGGCC	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2089delG	11.37:g.67817504delG	ENSP00000265686:p.Gly698fs	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	59	35	NM_006019	0	0	0	0	0	O75877|Q8WVC5	Frame_Shift_Del	DEL	ENST00000265686.3	37	CCDS8177.1																																																																																			.		0.662	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		-	67817504	G	-	67817504	7	5	62	1	0	1	0	1	0	0	0	0	15750	1000	35	0	2151	0	TCIRG1	11	67817504	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	3152110	67817504	67189012	882	13250											
SUV420H1	51111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	67938597	67938597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagagccttcacacatgctgTatctcgaccagttgacacaa	7	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:67938597T>A	ENST00000304363.4	-	9	1215	c.862A>T	c.(862-864)Aca>Tca	p.T288S	SUV420H1_ENST00000401547.2_Missense_Mutation_p.T288S|SUV420H1_ENST00000405515.1_Missense_Mutation_p.T288S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.T265S|SUV420H1_ENST00000402789.1_Missense_Mutation_p.T288S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACATGCTGTATCTCGACCA	0.343																																					p.T288S		.											.	SUV420H1-228	0			c.A862T						.						80	79	80					11																	67938597		2200	4294	6494	SO:0001583	missense	51111	exon9			ATGCTGTATCTCG	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.862A>T	11.37:g.67938597T>A	ENSP00000305899:p.Thr288Ser	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	59	42	NM_017635	0	0	0	13	13	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753008	0.89753	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.79	5.79	0.91817	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	L	0.31476	0.935	0.80722	D	1	P;P;D;D	0.89917	0.541;0.804;0.996;1.0	B;P;D;D	0.87578	0.38;0.688;0.98;0.998	D	0.84979	0.0887	10	0.46703	T	0.11	-26.5416	16.1376	0.81497	0.0:0.0:0.0:1.0	.	265;288;288;288	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	S	288;288;288;288;265	ENSP00000305899:T288S;ENSP00000385965:T288S;ENSP00000385640:T288S;ENSP00000385005:T288S;ENSP00000384724:T265S	ENSP00000305899:T288S	T	-	1	0	SUV420H1	67695173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.212000	0.71576	0.533000	0.62120	ACA	.		0.343	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		A	67938597	T	A	67938597	3	1	62	1	0	0	0	0	1	0	0	0	15461	1638	57	5	1815	5	SUV420H1	11	67938597	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	121093	67938597	67067919	883	13251											
P2RY2	5029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	72945404	72945404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcaagacctggaatgCgtccaccacatatatgttcc	7	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945404C>T	ENST00000311131.2	+	3	667	c.200C>T	c.(199-201)gCg>gTg	p.A67V	P2RY2_ENST00000393597.2_Missense_Mutation_p.A67V|P2RY2_ENST00000393596.2_Missense_Mutation_p.A67V	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCTGGAATGCGTCCACCACA	0.617																																					p.A67V		.											.	P2RY2-503	0			c.C200T						.						209	170	183					11																	72945404		2200	4293	6493	SO:0001583	missense	5029	exon3			GGAATGCGTCCAC	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.200C>T	11.37:g.72945404C>T	ENSP00000310305:p.Ala67Val	Somatic	164	0		WXS	Illumina GAIIx	Phase_I	217	105	NM_176071	0	0	20	58	38	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218594	0.79464	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.36157	1.27;1.27;1.27	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.178979	0.48767	D	0.000172	T	0.33702	0.0872	N	0.25789	0.76	0.42555	D	0.993125	P	0.48694	0.914	P	0.45681	0.49	T	0.08493	-1.0719	10	0.40728	T	0.16	.	17.6442	0.88145	0.0:1.0:0.0:0.0	.	67	P41231	P2RY2_HUMAN	V	67	ENSP00000377222:A67V;ENSP00000310305:A67V;ENSP00000377221:A67V	ENSP00000310305:A67V	A	+	2	0	P2RY2	72623052	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.980000	0.70516	2.412000	0.81896	0.585000	0.79938	GCG	.		0.617	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945404	C	T	72945404	3	4	62	1	0	0	0	0	1	0	0	0	11391	768	27	1	202	1	P2RY2	11	72945404	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5006807	72945404	62061112	884	13252											
P2RY2	5029	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	72945486	72945487	+	Missense_Mutation	DNP	CC	CC	AT													ctgctggtctattactacgcCcgcggcgaccactggccctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945486_72945487CC>AT	ENST00000311131.2	+	3	749_750	c.282_283CC>AT	c.(280-285)gcCCgc>gcATgc	p.R95C	P2RY2_ENST00000393597.2_Missense_Mutation_p.R95C|P2RY2_ENST00000393596.2_Missense_Mutation_p.R95C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	95					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATTACTACGCCCGCGGCGACCA	0.579																																					p.A94A|p.R95C		.											.	P2RY2-503	0			c.C282A|c.C283T						.																																			SO:0001583	missense	5029	exon3			CTACGCCCGCGGC|TACGCCCGCGGCG	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		Exception_encountered	11.37:g.72945486_72945487delinsAT	ENSP00000310305:p.Arg95Cys	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	151|150	75|74	NM_176071	0	0	12	12	0	B2R9W3|Q96EM8	Silent|Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																			.		0.579	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		AT	72945487	CC	AT	72945486	3	1	62	1	0	0	0	0	1	0	0	0	11391	610	22	3	284	3	P2RY2	11	72945486	Missense_Mutation	DNP	CC	TCGA-PK-A5HB-01A-11D-A29I-10	82	72945486	62061030	885	13253	128	2									
P2RY2	5029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	72945489	72945489	+	Silent	SNP	C	C	T													ctggtctattactacgcccgCggcgaccactggcccttcag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945489C>T	ENST00000311131.2	+	3	752	c.285C>T	c.(283-285)cgC>cgT	p.R95R	P2RY2_ENST00000393597.2_Silent_p.R95R|P2RY2_ENST00000393596.2_Silent_p.R95R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	95					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTACGCCCGCGGCGACCACT	0.577																																					p.R95R		.											.	P2RY2-503	0			c.C285T						.						87	78	81					11																	72945489		2200	4293	6493	SO:0001819	synonymous_variant	5029	exon3			CGCCCGCGGCGAC	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.285C>T	11.37:g.72945489C>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	150	72	NM_176071	0	0	13	13	0	B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																			.		0.577	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945489	C	T	72945489	2	4	62	1	0	0	0	0	0	0	0	1	11391	755	27	1		1	P2RY2	11	72945489	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3	72945489	62061027	886	13254	128	2									
C11orf30	56946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	76169377	76169377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataatgcatctcttccagtGcctgcagaaacaggaagcaa	8	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:76169377G>A	ENST00000529032.1	+	4	396	c.396G>A	c.(394-396)gtG>gtA	p.V132V	C11orf30_ENST00000343878.3_Silent_p.V132V|C11orf30_ENST00000524490.1_Silent_p.V132V|C11orf30_ENST00000525919.1_Silent_p.V132V|C11orf30_ENST00000334736.3_Silent_p.V132V|C11orf30_ENST00000525038.1_Silent_p.V146V|C11orf30_ENST00000524767.1_Silent_p.V146V|C11orf30_ENST00000533248.1_Silent_p.V146V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	132	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTCTTCCAGTGCCTGCAGAAA	0.428																																					p.V132V		.											.	C11orf30-232	0			c.G396A						.						86	83	84					11																	76169377		2200	4292	6492	SO:0001819	synonymous_variant	56946	exon5			TCCAGTGCCTGCA	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.396G>A	11.37:g.76169377G>A		Somatic	101	0		WXS	Illumina GAIIx	Phase_I	60	43	NM_020193	0	0	0	2	2	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	CCDS8244.1																																																																																			.		0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		A	76169377	G	A	76169377	2	1	62	1	0	0	0	0	0	0	0	1	1641	1306	46	3		3	C11orf30	11	76169377	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3223888	76169377	58837139	887	13255											
B3GNT6	192134	hgsc.bcm.edu	37	chr11	76751543	76751604	+	Frame_Shift_Del	DEL	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-													gcctacatgggcatgtgtctTggagcgcgccggcctggcgc					rs544232471|rs34153015|rs182310862|rs11292200|rs77209527|rs539994853|rs201940118|rs11292199|rs200788398	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENST00000533140.1	+	2	1086_1147	c.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	c.(946-1011)cttggagcgcgccggcctggcgcccagcggccacgagggcatcctggcccttcggcgtgcagcttgfs	p.LGARRPGAQRPRGHPGPSACSL316fs	B3GNT6_ENST00000421061.1_Splice_Site_p.GARRPGAQRPRGHPGP200fs|B3GNT6_ENST00000354301.5_Splice_Site_p.LERAGLAPSGHEGILALRRAA316fs			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						GCATGTGTCTTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCTTGCCTGGCGC	0.71																																					p.316_336del		.											.	.	0			c.947_1006del						.																																			SO:0001589	frameshift_variant	192134	exon3			GTGTCTTGGAGCG	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.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	11.37:g.76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENSP00000435352:p.Leu316fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	26	0	NM_138706	0	0	0	0	0	Q4TTN0	In_Frame_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.71	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		-	76751604	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	76751543	7	5	62	1	0	1	0	1	0	0	0	0	1262	1799	63	0	950	0	B3GNT6	11	76751543	Frame_Shift_Del	DEL	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TCGA-PK-A5HB-01A-11D-A29I-10	582166	76751543	58254973	888	13256											
C11orf54	28970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	93488407	93488407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagacagaaagtgaacAcaagcctcctgtaaatggaa	8	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:93488407A>G	ENST00000331239.4	+	6	541	c.362A>G	c.(361-363)cAc>cGc	p.H121R	C11orf54_ENST00000528099.1_Missense_Mutation_p.H121R|C11orf54_ENST00000540113.1_Missense_Mutation_p.H102R|C11orf54_ENST00000528288.1_Missense_Mutation_p.H121R|C11orf54_ENST00000354421.3_Missense_Mutation_p.H121R			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	121					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAAGTGAACACAAGCCTCCT	0.388																																					p.H121R		.											.	C11orf54-90	0			c.A362G						.						99	93	95					11																	93488407		2201	4298	6499	SO:0001583	missense	28970	exon6			GTGAACACAAGCC	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.362A>G	11.37:g.93488407A>G	ENSP00000331209:p.His121Arg	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	72	53	NM_014039	0	0	0	12	12	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	A	10.84	1.465269	0.26335	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000526335;ENST00000533154	.	.	.	5.94	5.94	0.96194	Domain of unknown function DUF1907 (1);	0.433366	0.29799	N	0.011174	T	0.46405	0.1391	L	0.36672	1.1	0.34770	D	0.733635	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.53222	-0.8469	9	0.22706	T	0.39	-6.8502	12.2685	0.54691	0.8585:0.1414:0.0:0.0	.	121;121	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	R	121;121;121;121;102;102;102;121;121;10	.	ENSP00000331209:H121R	H	+	2	0	C11orf54	93128055	0.934000	0.31675	0.999000	0.59377	0.977000	0.68977	3.868000	0.56055	2.265000	0.75225	0.482000	0.46254	CAC	.		0.388	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		G	93488407	A	G	93488407	3	3	62	1	0	0	0	0	1	0	0	0	1654	159	6	4	380	4	C11orf54	11	93488407	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	16736864	93488407	41518109	889	13257											
GPR83	10888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	94134121	94134121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgcattcgctggttcTtgaagatgacatgacagacc	11	10	1	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:94134121T>C	ENST00000243673.2	-	1	464	c.293A>G	c.(292-294)aAg>aGg	p.K98R	GPR83_ENST00000539203.2_Missense_Mutation_p.K98R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	98					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCTGGTTCTTGAAGATGAC	0.522																																					p.K98R		.											.	GPR83-92	0			c.A293G						.						88	79	82					11																	94134121		2201	4298	6499	SO:0001583	missense	10888	exon1			TGGTTCTTGAAGA	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.293A>G	11.37:g.94134121T>C	ENSP00000243673:p.Lys98Arg	Somatic	177	0		WXS	Illumina GAIIx	Phase_I	111	90	NM_016540	0	0	0	0	0	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926712	0.52759	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.35236	1.32;1.32	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.21617	0.685	0.80722	D	1	B	0.33857	0.429	B	0.41988	0.372	T	0.04153	-1.0973	10	0.07644	T	0.81	.	14.0335	0.64632	0.0:0.0:0.0:1.0	.	98	Q9NYM4	GPR83_HUMAN	R	98	ENSP00000243673:K98R;ENSP00000441550:K98R	ENSP00000243673:K98R	K	-	2	0	GPR83	93773769	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.814000	0.86154	1.908000	0.55244	0.374000	0.22700	AAG	.		0.522	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		C	94134121	T	C	94134121	3	2	62	1	0	0	0	0	1	0	0	0	6739	1609	56	4	994	4	GPR83	11	94134121	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	645714	94134121	40872395	890	13258											
PIH1D2	120379	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	111943748	111943748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtctgtagacaaagctGtggttctggggcagcacaga	14	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:111943748G>T	ENST00000280350.4	-	2	373	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	PIH1D2_ENST00000528775.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000431456.1_Missense_Mutation_p.Q51K|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000530104.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000530641.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000420986.2_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	51										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)		AGACAAAGCTGTGGTTCTGGG	0.483																																					p.Q51K		.											.	PIH1D2-69	0			c.C151A						.						87	79	82					11																	111943748		2201	4297	6498	SO:0001583	missense	120379	exon2			AAAGCTGTGGTTC	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.151C>A	11.37:g.111943748G>T	ENSP00000280350:p.Gln51Lys	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	22	16	NM_001082619	0	0	0	0	0	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.598|3.598	-0.082161|-0.082161	0.07141|0.07141	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32;2.32|.	4.97|4.97	3.07|3.07	0.35406|0.35406	.|.	1.227860|.	0.05246|.	N|.	0.513037|.	T|T	0.46908|0.46908	0.1417|0.1417	M|M	0.68317|0.68317	2.08|2.08	0.24681|0.24681	N|N	0.99337|0.99337	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.12156|.	0.004;0.007;0.006|.	T|T	0.35176|0.35176	-0.9799|-0.9799	10|5	0.46703|.	T|.	0.11|.	2.1755|2.1755	7.3716|7.3716	0.26804|0.26804	0.0794:0.0:0.6258:0.2948|0.0794:0.0:0.6258:0.2948	.|.	51;51;51|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	K|K	51;51;51;51;51;16|23	ENSP00000434275:Q51K;ENSP00000388209:Q51K;ENSP00000431841:Q51K;ENSP00000280350:Q51K;ENSP00000431147:Q51K;ENSP00000433297:Q16K|.	ENSP00000280350:Q51K|.	Q|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111448958|111448958	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.628000|0.628000	0.37860|0.37860	1.277000|1.277000	0.33167|0.33167	0.779000|0.779000	0.33543|0.33543	0.655000|0.655000	0.94253|0.94253	CAG|ACA	.		0.483	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		T	111943748	G	T	111943748	3	4	62	1	0	0	0	0	1	0	0	0	11946	1386	48	3	874	3	PIH1D2	11	111943748	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17809627	111943748	23062768	891	13259											
C11orf57	55216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	111953575	111953578	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													taagaaaaccaaaaggaaaaAgagagagaaaaaagcccata							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGAG	AGAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:111953575_111953578delAGAG	ENST00000280352.9	+	6	1394_1397	c.758_761delAGAG	c.(757-762)aagagafs	p.KR253fs	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.KR225fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.KR254fs|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.KR253fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	253	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAAGGAAAAAGAGAGAGAAAAAA	0.407																																					p.254_255del		.											.	C11orf57-155	0			c.761_764del						.																																			SO:0001589	frameshift_variant	55216	exon6			GGAAAAAGAGAGA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.758_761delAGAG	11.37:g.111953579_111953582delAGAG	ENSP00000339076:p.Lys253fs	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	31	23	NM_001082969	0	0	0	0	0	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	37	CCDS41715.1																																																																																			.		0.407	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		-	111953578	AGAG	-	111953575	7	5	62	1	0	1	0	1	0	0	0	0	1655	72	3	0	779	0	C11orf57	11	111953575	Frame_Shift_Del	DEL	AGAG	TCGA-PK-A5HB-01A-11D-A29I-10	9827	111953575	23052941	892	13260											
RNF214	257160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	117153198	117153198	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgaccatggaggaacttatCcagttggttgctgcacgact	11	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:117153198C>G	ENST00000531452.1	+	12	1837	c.1791C>G	c.(1789-1791)atC>atG	p.I597M	RNF214_ENST00000531287.1_Missense_Mutation_p.I442M|RNF214_ENST00000530849.1_Missense_Mutation_p.I442M|RNF214_ENST00000300650.4_Missense_Mutation_p.I597M|RNF214_ENST00000524917.1_3'UTR	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	597							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGGAACTTATCCAGTTGGTTG	0.522																																					p.I597M		.											.	RNF214-90	0			c.C1791G						.						83	81	82					11																	117153198		2011	4183	6194	SO:0001583	missense	257160	exon12			ACTTATCCAGTTG	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1791C>G	11.37:g.117153198C>G	ENSP00000431643:p.Ile597Met	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	83	60	NM_207343	0	0	2	20	18	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160716	0.57368	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.51574	0.77;0.7;0.8;0.7	5.63	3.7	0.42460	.	0.409580	0.27275	N	0.020112	T	0.34193	0.0889	N	0.08118	0	0.28528	N	0.912701	P;D	0.54964	0.876;0.969	B;P	0.50970	0.264;0.655	T	0.13683	-1.0500	10	0.51188	T	0.08	-5.2928	8.5269	0.33311	0.0:0.6269:0.2956:0.0775	.	442;597	B4DTD1;Q8ND24	.;RN214_HUMAN	M	442;597;442;597;149	ENSP00000435361:I442M;ENSP00000431643:I597M;ENSP00000432903:I442M;ENSP00000300650:I597M	ENSP00000300650:I597M	I	+	3	3	RNF214	116658408	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.599000	0.24089	1.313000	0.45069	0.561000	0.74099	ATC	.		0.522	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		G	117153198	C	G	117153198	3	3	62	1	0	0	0	0	1	0	0	0	13523	845	30	3	1833	3	RNF214	11	117153198	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5199623	117153198	17853318	893	13261											
POU2F3	25833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	120180235	120180235	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcaaccgacgccaaaaggaGaagcgaatcaactgccctgt	10	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:120180235G>A	ENST00000543440.2	+	10	1158	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	POU2F3_ENST00000260264.4_Silent_p.E338E	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	336					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCCAAAAGGAGAAGCGAATCA	0.567																																					p.E338E		.											.	POU2F3-92	0			c.G1014A						.						119	88	99					11																	120180235		2203	4299	6502	SO:0001819	synonymous_variant	25833	exon10			AAAGGAGAAGCGA	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1008G>A	11.37:g.120180235G>A		Somatic	158	0		WXS	Illumina GAIIx	Phase_I	110	69	NM_001244682	0	0	0	0	0	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	CCDS8431.1																																																																																			.		0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			A	120180235	G	A	120180235	2	1	62	1	0	0	0	0	0	0	0	1	12312	933	33	3		3	POU2F3	11	120180235	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3027037	120180235	14826281	894	13262											
GRIK4	2900	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	120531058	120531058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggcgcctttggtgctgCttcctgcgtggctcgtgatg	14	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:120531058C>T	ENST00000527524.2	+	3	318	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	GRIK4_ENST00000438375.2_Missense_Mutation_p.L11F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	11					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TTTGGTGCTGCTTCCTGCGTG	0.637											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L11F		.											.	GRIK4-92	0			c.C31T						.						68	60	63					11																	120531058		2203	4299	6502	SO:0001583	missense	2900	exon1			GTGCTGCTTCCTG	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.31C>T	11.37:g.120531058C>T	ENSP00000435648:p.Leu11Phe	Somatic	60	0	1504	WXS	Illumina GAIIx	Phase_I	39	30	NM_014619	0	0	1	5	4	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911324	0.52439	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13657	2.57;2.57	5.55	5.55	0.83447	.	0.119263	0.37483	N	0.002073	T	0.06917	0.0176	N	0.08118	0	0.36619	D	0.875673	B;B	0.33694	0.421;0.089	B;B	0.24701	0.055;0.037	T	0.43310	-0.9399	10	0.25751	T	0.34	.	14.264	0.66104	0.0:0.8506:0.1494:0.0	.	11;11	A6H8K8;Q16099	.;GRIK4_HUMAN	F	11	ENSP00000435648:L11F;ENSP00000404063:L11F	ENSP00000404063:L11F	L	+	1	0	GRIK4	120036268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.636000	0.46545	2.764000	0.94973	0.563000	0.77884	CTT	.		0.637	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120531058	C	T	120531058	3	4	62	1	0	0	0	0	1	0	0	0	6803	797	28	3	33	3	GRIK4	11	120531058	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	350823	120531058	14475458	895	13263											
TECTA	7007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	121016701	121016701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcttctataagaactgCctgtttgactcttgcatcga	6	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:121016701C>T	ENST00000392793.1	+	12	4252	c.3981C>T	c.(3979-3981)tgC>tgT	p.C1327C	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.C1327C			O75443	TECTA_HUMAN	tectorin alpha	1327					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)		ATAAGAACTGCCTGTTTGACT	0.567																																					p.C1327C		.											.	TECTA-225	0			c.C3981T						.						117	111	113					11																	121016701		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon11			GAACTGCCTGTTT	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.3981C>T	11.37:g.121016701C>T		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	64	38	NM_005422	0	0	0	1	1		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			.		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121016701	C	T	121016701	2	4	62	1	0	0	0	0	0	0	0	1	15794	747	26	3		3	TECTA	11	121016701	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	485643	121016701	13989815	896	13264											
NFRKB	4798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	129754659	129754659	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagttttcatatccgtGgttgaaagtgtgggcaccac	11	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:129754659G>C	ENST00000446488.3	-	6	826	c.723C>G	c.(721-723)acC>acG	p.T241T	NFRKB_ENST00000304521.5_Silent_p.T241T|NFRKB_ENST00000524746.1_Silent_p.T241T|NFRKB_ENST00000524794.1_Silent_p.T266T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	241					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCATATCCGTGGTTGAAAGTG	0.542																																					p.T266T		.											.	NFRKB-93	0			c.C798G						.						69	77	74					11																	129754659		2201	4297	6498	SO:0001819	synonymous_variant	4798	exon5			ATCCGTGGTTGAA		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.723C>G	11.37:g.129754659G>C		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	48	36	NM_006165	0	0	0	0	0	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	CCDS44770.1																																																																																			.		0.542	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		C	129754659	G	C	129754659	2	2	62	1	0	0	0	0	0	0	0	1	10423	1335	47	3		3	NFRKB	11	129754659	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8737958	129754659	5251857	897	13265											
NCAPD3	23310	broad.mit.edu;bcgsc.ca	37	chr11	134048719	134048719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatttcaaatgccttacagTggtcagcatcagcagacgaa	9	9	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134048719T>C	ENST00000534548.2	-	21	2736	c.2672A>G	c.(2671-2673)cAc>cGc	p.H891R	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	891					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCCTTACAGTGGTCAGCATC	0.502																																					p.H891R		.											.	NCAPD3-229	0			c.A2672G						.						103	90	94					11																	134048719		2201	4297	6498	SO:0001583	missense	23310	exon21			TTACAGTGGTCAG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2672A>G	11.37:g.134048719T>C	ENSP00000433681:p.His891Arg	Somatic	170	1		WXS	Illumina GAIIx	Phase_I	123	8	NM_015261	0	0	0	0	0	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307041	0.40795	.	.	ENSG00000151503	ENST00000534548	T	0.23552	1.9	5.78	-3.38	0.04883	Armadillo-like helical (1);Armadillo-type fold (1);	0.532323	0.19774	N	0.106363	T	0.11452	0.0279	L	0.43152	1.355	0.09310	N	1	P	0.41475	0.751	B	0.31337	0.128	T	0.43845	-0.9366	10	0.11182	T	0.66	3.8882	5.8614	0.18749	0.107:0.0607:0.4437:0.3886	.	891	P42695	CNDD3_HUMAN	R	891	ENSP00000433681:H891R	ENSP00000434168:H891R	H	-	2	0	NCAPD3	133553929	0.005000	0.15991	0.000000	0.03702	0.086000	0.17979	0.645000	0.24782	-0.468000	0.06922	0.460000	0.39030	CAC	.		0.502	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		C	134048719	T	C	134048719	3	2	62	1	0	0	0	0	1	0	0	0	10245	1696	59	4	1884	4	NCAPD3	11	134048719	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4294060	134048719	957797	898	13266											
GLB1L3	112937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	134147638	134147638	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctggagctgaagaatcgatCtgtgggacttggaactgaaa	13	6	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134147638C>T	ENST00000431683.2	+	3	194	c.194C>T	c.(193-195)tCt>tTt	p.S65F	GLB1L3_ENST00000389887.5_Missense_Mutation_p.S65F	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	65					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)		AAGAATCGATCTGTGGGACTT	0.562																																					p.S65F		.											.	GLB1L3-69	0			c.C194T						.						37	40	39					11																	134147638		2182	4288	6470	SO:0001583	missense	112937	exon3			ATCGATCTGTGGG		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.194C>T	11.37:g.134147638C>T	ENSP00000396615:p.Ser65Phe	Somatic	107	0		WXS	Illumina GAIIx	Phase_I	59	47	NM_001080407	0	0	0	0	0	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601561	0.28534	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97186	-4.15;-4.28	5.06	0.685	0.18009	.	.	.	.	.	D	0.89736	0.6801	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12837	0.007;0.008	T	0.81640	-0.0841	9	0.41790	T	0.15	.	3.7742	0.08653	0.388:0.3398:0.0:0.2721	.	65;65	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	F	65	ENSP00000374537:S65F;ENSP00000396615:S65F	ENSP00000374537:S65F	S	+	2	0	GLB1L3	133652848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.631000	0.05496	0.059000	0.16252	0.585000	0.79938	TCT	.		0.562	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		T	134147638	C	T	134147638	3	4	62	1	0	0	0	0	1	0	0	0	6456	913	32	3	204	3	GLB1L3	11	134147638	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	98919	134147638	858878	899	13267											
GLB1L2	89944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	134240273	134240273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctgtctctgtgggacGccctcaagtacctgggggag	14	11	2	0	rs202239114		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134240273G>A	ENST00000535456.2	+	12	1383	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	GLB1L2_ENST00000389881.3_Missense_Mutation_p.A399T|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.A399T	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	399					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGTGGGACGCCCTCAAGTA	0.612																																					p.A399T		.											.	GLB1L2-25	0			c.G1195A						.						175	144	155					11																	134240273		2201	4297	6498	SO:0001583	missense	89944	exon12			TGGGACGCCCTCA		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1195G>A	11.37:g.134240273G>A	ENSP00000444628:p.Ala399Thr	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	102	81	NM_138342	0	0	0	0	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.55|11.55	1.672865|1.672865	0.29693|0.29693	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.97114|.	-4.25;-4.25;-4.25|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.584382|.	0.18637|.	N|.	0.135408|.	T|T	0.53286|0.53286	0.1787|0.1787	N|N	0.25060|0.25060	0.705|0.705	0.37542|0.37542	D|D	0.918356|0.918356	P|.	0.34462|.	0.454|.	B|.	0.20384|.	0.029|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|5	0.20519|.	T|.	0.43|.	-22.7888|-22.7888	16.7317|16.7317	0.85436|0.85436	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	399|.	Q8IW92|.	GLBL2_HUMAN|.	T|H	399|337	ENSP00000344659:A399T;ENSP00000444628:A399T;ENSP00000374531:A399T|.	ENSP00000344659:A399T|.	A|R	+|+	1|2	0|0	GLB1L2|GLB1L2	133745483|133745483	0.432000|0.432000	0.25554|0.25554	0.923000|0.923000	0.36655|0.36655	0.299000|0.299000	0.27559|0.27559	3.895000|3.895000	0.56258|0.56258	2.746000|2.746000	0.94184|0.94184	0.643000|0.643000	0.83706|0.83706	GCC|CGC	G|0.999;A|0.001		0.612	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		A	134240273	G	A	134240273	3	1	62	1	0	0	0	0	1	0	0	0	6455	1087	38	1	1241	1	GLB1L2	11	134240273	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	92635	134240273	766243	900	13268											
KDM5A	5927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	431710	431710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcctcagcatcttccaGcattactcgcaattcaatca	3	15	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:431710G>A	ENST00000399788.2	-	17	2661	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	KDM5A_ENST00000382815.4_Silent_p.L767L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	767					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						GCATCTTCCAGCATTACTCGC	0.383			T	NUP98	AML																																p.L767L		.		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	.	KDM5A-227	0			c.C2299T						.						120	117	118					12																	431710		1826	4084	5910	SO:0001819	synonymous_variant	5927	exon17			CTTCCAGCATTAC		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.2299C>T	12.37:g.431710G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001042603	0	0	0	5	5	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																			.		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	431710	G	A	431710	2	1	62	1	0	0	0	0	0	0	0	1	8160	962	34	3		3	KDM5A	12	431710	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		431710	133420185	901	13269											
FGF23	8074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	4479600	4479600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaccacccctaatgggTcactggccatcgggctgttg	11	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:4479600T>C	ENST00000237837.1	-	3	810	c.665A>G	c.(664-666)gAc>gGc	p.D222G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	222					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCTAATGGGTCACTGGCCAT	0.697																																					p.D222G		.											.	FGF23-660	0			c.A665G						.						31	35	34					12																	4479600		2203	4300	6503	SO:0001583	missense	8074	exon3			AATGGGTCACTGG	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.665A>G	12.37:g.4479600T>C	ENSP00000237837:p.Asp222Gly	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	85	69	NM_020638	0	0	0	0	0	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075074	0.55646	.	.	ENSG00000118972	ENST00000237837	D	0.83591	-1.74	4.84	4.84	0.62591	.	0.098369	0.64402	D	0.000002	D	0.83358	0.5237	L	0.32530	0.975	0.36585	D	0.873795	D	0.61080	0.989	P	0.57846	0.828	D	0.87578	0.2482	10	0.72032	D	0.01	-28.0538	12.2854	0.54789	0.0:0.0:0.0:1.0	.	222	Q9GZV9	FGF23_HUMAN	G	222	ENSP00000237837:D222G	ENSP00000237837:D222G	D	-	2	0	FGF23	4349861	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	3.959000	0.56744	2.026000	0.59711	0.448000	0.29417	GAC	.		0.697	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			C	4479600	T	C	4479600	3	2	62	1	0	0	0	0	1	0	0	0	5874	1667	58	4	94	4	FGF23	12	4479600	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4047890	4479600	129372295	902	13270											
VAMP1	6843	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6575152	6575152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgtccacgttcacacgTatgatgtccaccacctgagg	8	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6575152T>C	ENST00000396308.3	-	3	289	c.144A>G	c.(142-144)atA>atG	p.I48M	VAMP1_ENST00000361716.3_Missense_Mutation_p.I48M|VAMP1_ENST00000400911.3_Missense_Mutation_p.I48M|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000535180.1_Missense_Mutation_p.I48M	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	48	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	CGTTCACACGTATGATGTCCA	0.537											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I48M		.											.	VAMP1-90	0			c.A144G						.						100	83	88					12																	6575152		2203	4300	6503	SO:0001583	missense	6843	exon3			CACACGTATGATG		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.144A>G	12.37:g.6575152T>C	ENSP00000379602:p.Ile48Met	Somatic	86	1	635	WXS	Illumina GAIIx	Phase_I	61	51	NM_014231	0	0	0	5	5	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Missense_Mutation	SNP	ENST00000396308.3	37	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	t	1.795	-0.478527	0.04414	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000355479;ENST00000396308;ENST00000396943;ENST00000539047	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.77	-0.736	0.11133	Synaptobrevin (3);	0.201464	0.64402	N	0.000010	T	0.01870	0.0059	N	0.00001	-3.655	0.31783	N	0.630672	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.0;0.003	T	0.46884	-0.9159	10	0.02654	T	1	.	9.7017	0.40192	0.179:0.652:0.0:0.169	.	48;48;48	P23763-3;P23763;P23763-2	.;VAMP1_HUMAN;.	M	48	ENSP00000383702:I48M;ENSP00000355122:I48M;ENSP00000444181:I48M;ENSP00000379602:I48M	ENSP00000347664:I48M	I	-	3	3	VAMP1	6445413	0.993000	0.37304	0.985000	0.45067	0.152000	0.21847	0.462000	0.21956	-0.364000	0.08088	-3.410000	0.00038	ATA	.		0.537	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1			C	6575152	T	C	6575152	3	2	62	1	0	0	0	0	1	0	0	0	17161	1628	57	4	253	4	VAMP1	12	6575152	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2095552	6575152	127276743	903	13271											
NCAPD2	9918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	6626132	6626132	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaagcccatggccatgatGtcaactcctttgtgcggagc	10	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6626132G>C	ENST00000315579.5	+	10	1925	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V331L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	376	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGGCCATGATGTCAACTCCTT	0.512																																					p.V376L		.											.	NCAPD2-660	0			c.G1126C						.						181	164	170					12																	6626132		2203	4300	6503	SO:0001583	missense	9918	exon10			CATGATGTCAACT	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1126G>C	12.37:g.6626132G>C	ENSP00000325017:p.Val376Leu	Somatic	203	2		WXS	Illumina GAIIx	Phase_I	151	116	NM_014865	0	0	3	21	18	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413403	0.62511	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.13538	2.58;2.58;2.58	5.44	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.282057	0.40222	N	0.001142	T	0.18002	0.0432	M	0.80616	2.505	0.35815	D	0.824127	B;B;B	0.29716	0.255;0.033;0.059	B;B;B	0.29716	0.106;0.064;0.049	T	0.10870	-1.0611	10	0.27785	T	0.31	-21.3534	10.0809	0.42388	0.2245:0.0:0.7755:0.0	.	331;337;376	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	376;248;331;248	ENSP00000325017:V376L;ENSP00000371895:V248L;ENSP00000444417:V331L	ENSP00000325017:V376L	V	+	1	0	NCAPD2	6496393	0.910000	0.30920	0.920000	0.36463	0.991000	0.79684	1.443000	0.35057	1.221000	0.43506	0.462000	0.41574	GTC	.		0.512	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		C	6626132	G	C	6626132	3	2	62	1	0	0	0	0	1	0	0	0	10244	1377	48	3	1160	3	NCAPD2	12	6626132	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	50980	6626132	127225763	904	13272											
GNB3	2784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6954905	6954905	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccctcagtggccgcctactAttcgctggctacgacgactt	9	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6954905A>T	ENST00000229264.3	+	10	1260	c.855A>T	c.(853-855)ctA>ctT	p.L285L	CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR|GNB3_ENST00000435982.2_Silent_p.L284L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	285					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCCGCCTACTATTCGCTGGCT	0.592																																					p.L285L		.											.	GNB3-227	0			c.A855T						.						174	166	168					12																	6954905		2203	4300	6503	SO:0001819	synonymous_variant	2784	exon10			CCTACTATTCGCT		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.855A>T	12.37:g.6954905A>T		Somatic	134	0		WXS	Illumina GAIIx	Phase_I	125	95	NM_002075	0	0	0	2	2	Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	CCDS8564.1																																																																																			.		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		T	6954905	A	T	6954905	2	4	62	1	0	0	0	0	0	0	0	1	6545	436	16	5		5	GNB3	12	6954905	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	328773	6954905	126896990	905	13273											
CLEC4C	170482	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7898983	7898983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatggatacgactgccatgGaccagaccttcaactggaac	10	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:7898983G>A	ENST00000542353.1	-	3	558	c.68C>T	c.(67-69)tCc>tTc	p.S23F	CLEC4C_ENST00000360345.3_Missense_Mutation_p.S23F|CLEC4C_ENST00000354629.5_Intron|CLEC4C_ENST00000540085.1_Intron	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	23					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GACTGCCATGGACCAGACCTT	0.498																																					p.S23F		.											.	CLEC4C-93	0			c.C68T						.						162	124	137					12																	7898983		2203	4300	6503	SO:0001583	missense	170482	exon3			GCCATGGACCAGA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.68C>T	12.37:g.7898983G>A	ENSP00000440428:p.Ser23Phe	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	33	26	NM_130441	0	0	0	0	0	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867276	0.17250	.	.	ENSG00000198178	ENST00000542353;ENST00000360345;ENST00000543765	T;T;T	0.17370	4.39;4.39;2.28	2.06	2.06	0.26882	.	.	.	.	.	T	0.14743	0.0356	L	0.48642	1.525	0.21184	N	0.999767	D	0.54964	0.969	B	0.41332	0.354	T	0.15150	-1.0447	9	0.56958	D	0.05	.	7.6579	0.28386	0.0:0.0:1.0:0.0	.	23	Q8WTT0	CLC4C_HUMAN	F	23;23;20	ENSP00000440428:S23F;ENSP00000353500:S23F;ENSP00000442457:S20F	ENSP00000353500:S23F	S	-	2	0	CLEC4C	7790250	0.000000	0.05858	0.045000	0.18777	0.067000	0.16453	-0.218000	0.09240	1.449000	0.47699	0.508000	0.49915	TCC	.		0.498	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		A	7898983	G	A	7898983	3	1	62	1	0	0	0	0	1	0	0	0	3520	1174	41	3	593	3	CLEC4C	12	7898983	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	944078	7898983	125952912	906	13274											
RIMKLB	57494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	8926136	8926136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagactatgccgcctcccTtctaccctctggccggctca	8	18	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:8926136T>C	ENST00000538135.1	+	6	1742	c.917T>C	c.(916-918)cTt>cCt	p.L306P	A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.L306P|RIMKLB_ENST00000357529.3_Missense_Mutation_p.L306P			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	306					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCGCCTCCCTTCTACCCTCT	0.562																																					p.L306P		.											.	.	0			c.T917C						.						80	82	82					12																	8926136		1958	4152	6110	SO:0001583	missense	57494	exon7			CCTCCCTTCTACC	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.917T>C	12.37:g.8926136T>C	ENSP00000440943:p.Leu306Pro	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	96	75	NM_020734	0	0	1	2	1	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200688	0.58126	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.327983	0.28572	U	0.014870	T	0.50803	0.1637	L	0.32530	0.975	0.80722	D	1	D	0.56035	0.974	P	0.50617	0.646	T	0.46484	-0.9188	8	.	.	.	.	13.3689	0.60701	0.0:0.0:0.0:1.0	.	306	Q9ULI2	RIMKB_HUMAN	P	306	.	.	L	+	2	0	RIMKLB	8817403	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.497000	0.53295	2.172000	0.68678	0.482000	0.46254	CTT	.		0.562	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		C	8926136	T	C	8926136	3	2	62	1	0	0	0	0	1	0	0	0	13411	1609	56	4	935	4	RIMKLB	12	8926136	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1027153	8926136	124925759	907	13275											
KLRK1	22914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	10532370	10532370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggctacagcgatgaagCagcagaaaaaaaatggagat	11	7	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:10532370C>T	ENST00000240618.6	-	4	310	c.170G>A	c.(169-171)tGc>tAc	p.C57Y	KLRK1_ENST00000540818.1_Missense_Mutation_p.C57Y|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	57					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						AGCGATGAAGCAGCAGAAAAA	0.343																																					p.C57Y		.											.	.	0			c.G170A						.						58	53	55					12																	10532370		2203	4300	6503	SO:0001583	missense	0	exon9			ATGAAGCAGCAGA	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.170G>A	12.37:g.10532370C>T	ENSP00000240618:p.Cys57Tyr	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	48	40	NM_001199805	0	0	0	0	0	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940030	0.18281	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01484	4.84;4.84	5.64	0.621	0.17643	.	1.231560	0.06025	N	0.651950	T	0.02380	0.0073	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35612	0.119;0.512;0.327	B;B;B	0.33960	0.037;0.173;0.05	T	0.48387	-0.9040	10	0.41790	T	0.15	.	7.9658	0.30098	0.0:0.5834:0.0:0.4166	.	57;38;57	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	Y	57	ENSP00000240618:C57Y;ENSP00000446003:C57Y	ENSP00000240618:C57Y	C	-	2	0	KLRK1	10423637	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	0.322000	0.23283	0.650000	0.86243	TGC	.		0.343	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		T	10532370	C	T	10532370	3	4	62	1	0	0	0	0	1	0	0	0	8450	710	25	3	500	3	KLRK1	12	10532370	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1606234	10532370	123319525	908	13276											
CSDA	8531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	10856704	10856704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccggtccctgaagttgtGctccctctgggactccatcc	10	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:10856704G>A	ENST00000228251.4	-	7	1024	c.824C>T	c.(823-825)gCa>gTa	p.A275V	YBX3_ENST00000279550.7_Missense_Mutation_p.A206V|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	275					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A275V(1)									CTGAAGTTGTGCTCCCTCTGG	0.507																																					p.A275V		.											.	CSDA-586	1	Substitution - Missense(1)	lung(1)	c.C824T						.						182	148	159					12																	10856704		2203	4300	6503	SO:0001583	missense	8531	exon7			AGTTGTGCTCCCT	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.824C>T	12.37:g.10856704G>A	ENSP00000228251:p.Ala275Val	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	96	65	NM_003651	1	1	13	93	78	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292036	0.59976	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.25414	1.85;1.8	5.52	5.52	0.82312	.	0.429875	0.23620	N	0.046255	T	0.22044	0.0531	L	0.45228	1.405	0.24646	N	0.993549	B;P	0.43857	0.035;0.819	B;B	0.40602	0.034;0.334	T	0.17961	-1.0352	10	0.30854	T	0.27	.	10.3707	0.44053	0.0891:0.0:0.9109:0.0	.	206;275	P16989-2;P16989	.;DBPA_HUMAN	V	206;275	ENSP00000279550:A206V;ENSP00000228251:A275V	ENSP00000228251:A275V	A	-	2	0	CSDA	10747971	0.777000	0.28628	0.995000	0.50966	0.221000	0.24807	3.264000	0.51553	2.576000	0.86940	0.650000	0.86243	GCA	.		0.507	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		A	10856704	G	A	10856704	3	1	62	1	0	0	0	0	1	0	0	0	3936	1319	46	3	306	3	CSDA	12	10856704	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	324334	10856704	122995191	909	13277											
TAS2R19	259294	bcgsc.ca	37	chr12	11174416	11174416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctctgctgtgtcctaAgattccaagttgatgtgatt	10	7	1	3	rs112900131		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:11174416A>G	ENST00000390673.2	-	1	803	c.755T>C	c.(754-756)cTt>cCt	p.L252P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	252					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTGTGTCCTAAGATTCCAAGT	0.413																																					p.L252P		.											.	TAS2R19-91	0			c.T755C						.						157	140	145					12																	11174416		2203	4300	6503	SO:0001583	missense	259294	exon1			GTCCTAAGATTCC	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.755T>C	12.37:g.11174416A>G	ENSP00000375091:p.Leu252Pro	Somatic	223	7		WXS	Illumina GAIIx	Phase_I	151	21	NM_176888	0	0	0	0	0	Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480577	0.04383	.	.	ENSG00000212124	ENST00000390673	T	0.31247	1.5	2.68	-5.36	0.02689	.	4.481500	0.02353	N	0.076104	T	0.13798	0.0334	N	0.11870	0.19	0.09310	N	0.999991	B	0.02656	0.0	B	0.08055	0.003	T	0.07927	-1.0747	10	0.35671	T	0.21	.	0.5094	0.00592	0.3143:0.1228:0.2877:0.2751	.	252	P59542	T2R19_HUMAN	P	252	ENSP00000375091:L252P	ENSP00000375091:L252P	L	-	2	0	TAS2R19	11065683	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.993000	0.01475	-1.493000	0.01835	-0.633000	0.03987	CTT	A|0.997;G|0.003		0.413	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		G	11174416	A	G	11174416	3	3	62	1	0	0	0	0	1	0	0	0	15617	72	3	4	147	4	TAS2R19	12	11174416	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	317712	11174416	122677479	910	13278											
MANSC1	54682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	12483292	12483292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttggagatttctgtaAacggtatggtttctaagctg	12	4	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:12483292A>C	ENST00000535902.1	-	4	1528	c.965T>G	c.(964-966)tTt>tGt	p.F322C	MANSC1_ENST00000545735.1_Missense_Mutation_p.F241C|MANSC1_ENST00000396349.3_Missense_Mutation_p.F288C			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	322	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GATTTCTGTAAACGGTATGGT	0.458																																					p.F322C		.											.	MANSC1-90	0			c.T965G						.						131	123	126					12																	12483292		2203	4300	6503	SO:0001583	missense	54682	exon4			TCTGTAAACGGTA	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.965T>G	12.37:g.12483292A>C	ENSP00000438205:p.Phe322Cys	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	79	63	NM_018050	0	0	6	6	0	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747909	0.49257	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.26810	2.08;2.1;1.71	4.83	-2.35	0.06684	.	1.097680	0.07126	N	0.844736	T	0.32224	0.0822	L	0.57536	1.79	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.57371	0.819;0.819;0.819	T	0.28776	-1.0033	10	0.42905	T	0.14	-29.1048	1.1919	0.01867	0.3839:0.3266:0.1294:0.16	.	256;288;322	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	C	322;288;241;241	ENSP00000438205:F322C;ENSP00000379638:F288C;ENSP00000445303:F241C	ENSP00000347765:F241C	F	-	2	0	MANSC1	12374559	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.012000	0.12699	-0.131000	0.11578	0.402000	0.26972	TTT	.		0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		C	12483292	A	C	12483292	3	2	62	1	0	0	0	0	1	0	0	0	9262	14	1	5	334	5	MANSC1	12	12483292	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1308876	12483292	121368603	911	13279											
LOH12CR1	118426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	12510415	12510415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcagagctccgaggccgaGagccgacccaacgatctgaa	13	13	1	3	rs151180790		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:12510415G>C	ENST00000314565.4	+	1	361	c.30G>C	c.(28-30)gaG>gaC	p.E10D	LOH12CR1_ENST00000298571.6_Missense_Mutation_p.E10D|LOH12CR2_ENST00000381800.2_5'Flank|LOH12CR1_ENST00000542728.1_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	10										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGAGGCCGAGAGCCGACCCA	0.701																																					p.E10D		.											.	LOH12CR1-91	0			c.G30C						.						56	50	52					12																	12510415		2203	4300	6503	SO:0001583	missense	118426	exon1			GGCCGAGAGCCGA	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.30G>C	12.37:g.12510415G>C	ENSP00000321546:p.Glu10Asp	Somatic	215	1		WXS	Illumina GAIIx	Phase_I	161	107	NM_058169	0	0	0	6	6	Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722068	0.48728	.	.	ENSG00000165714	ENST00000314565;ENST00000298571	T;T	0.56941	1.47;0.43	5.41	4.52	0.55395	.	0.096231	0.64402	D	0.000001	T	0.31231	0.0790	N	0.11560	0.145	0.27143	N	0.961604	B;B	0.20052	0.041;0.006	B;B	0.17722	0.019;0.004	T	0.16482	-1.0401	10	0.40728	T	0.16	-4.5255	8.8406	0.35140	0.0757:0.0:0.7754:0.1489	.	10;10	Q969J3-2;Q969J3	.;L12R1_HUMAN	D	10	ENSP00000321546:E10D;ENSP00000298571:E10D	ENSP00000298571:E10D	E	+	3	2	LOH12CR1	12401682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.070000	0.41491	1.509000	0.48786	0.561000	0.74099	GAG	G|1.000;A|0.000		0.701	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			C	12510415	G	C	12510415	3	2	62	1	0	0	0	0	1	0	0	0	8926	933	33	3	32	3	LOH12CR1	12	12510415	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	27123	12510415	121341480	912	13280											
EMP1	2012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	13367530	13367530	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgaatcgtgatggaacgCagtatcaccacggctattcc	10	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:13367530C>T	ENST00000256951.5	+	5	578	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	EMP1_ENST00000396301.3_Silent_p.R114R|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000431267.2_Nonsense_Mutation_p.Q60*	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	127					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGATGGAACGCAGTATCACCA	0.493																																					p.Q127X		.											.	EMP1-90	0			c.C379T						.						195	162	173					12																	13367530		2203	4300	6503	SO:0001587	stop_gained	2012	exon5			GGAACGCAGTATC	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.379C>T	12.37:g.13367530C>T	ENSP00000256951:p.Gln127*	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	108	85	NM_001423	0	0	11	11	0	B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonsense_Mutation	SNP	ENST00000256951.5	37	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619685	0.28801	.	.	ENSG00000134531	ENST00000256951;ENST00000431267	.	.	.	5.56	-11.1	0.00147	.	163.184000	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-15.7735	5.4929	0.16787	0.4499:0.3411:0.1004:0.1087	.	.	.	.	X	127;60	.	ENSP00000256951:Q127X	Q	+	1	0	EMP1	13258797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.681000	0.00105	-5.575000	0.00012	-2.203000	0.00303	CAG	.		0.493	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		T	13367530	C	T	13367530	4	4	62	1	0	0	0	0	0	1	0	0	5117	711	25	3	393	3	EMP1	12	13367530	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	857115	13367530	120484365	913	13281											
ABCC9	10060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	22069967	22069967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtttgatatgtccaaGccagactgacagtacttaac	9	10	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:22069967G>A	ENST00000261201.4	-	4	476	c.477C>T	c.(475-477)ggC>ggT	p.G159G	ABCC9_ENST00000261200.4_Silent_p.G159G|ABCC9_ENST00000345162.2_Silent_p.G159G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	159					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)	ATATGTCCAAGCCAGACTGAC	0.408																																					p.G159G		.											.	ABCC9-96	0			c.C477T						.						193	186	188					12																	22069967		2203	4300	6503	SO:0001819	synonymous_variant	10060	exon4			GTCCAAGCCAGAC	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.477C>T	12.37:g.22069967G>A		Somatic	92	1		WXS	Illumina GAIIx	Phase_I	63	45	NM_005691	0	0	5	5	0	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																			.		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	22069967	G	A	22069967	2	1	62	1	0	0	0	0	0	0	0	1	59	958	34	3		3	ABCC9	12	22069967	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	8702437	22069967	111781928	914	13282											
SOX5	6660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	23818387	23818387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtacttactacatccagCcttatagctgaagcctggag	8	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:23818387C>T	ENST00000451604.2	-	7	1023	c.922G>A	c.(922-924)Gct>Act	p.A308T	SOX5_ENST00000309359.1_Missense_Mutation_p.A295T|SOX5_ENST00000381381.2_Missense_Mutation_p.A295T|SOX5_ENST00000537393.1_Missense_Mutation_p.A273T|SOX5_ENST00000545921.1_Missense_Mutation_p.A298T|SOX5_ENST00000546136.1_Missense_Mutation_p.A295T|SOX5_ENST00000541536.1_Missense_Mutation_p.A295T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	308					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)			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						CTACATCCAGCCTTATAGCTG	0.483																																					p.A308T		.											.	SOX5-655	0			c.G922A						.						122	127	125					12																	23818387		2203	4300	6503	SO:0001583	missense	6660	exon7			ATCCAGCCTTATA	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.922G>A	12.37:g.23818387C>T	ENSP00000398273:p.Ala308Thr	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	42	33	NM_006940	0	0	0	0	0	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443050	0.63067	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.96885	-4.16;-4.16;-4.09;-4.16;-4.16;-4.09;-4.16	5.28	4.38	0.52667	.	0.237597	0.43919	N	0.000520	D	0.91164	0.7217	N	0.08118	0	0.49582	D	0.9998	B;B;B	0.28783	0.222;0.0;0.142	B;B;B	0.36959	0.237;0.001;0.129	D	0.89234	0.3579	10	0.72032	D	0.01	.	9.5709	0.39427	0.0:0.7827:0.1423:0.0749	.	273;295;308	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	T	295;295;295;308;260;273;295;298	ENSP00000437487:A295T;ENSP00000308927:A295T;ENSP00000370788:A295T;ENSP00000398273:A308T;ENSP00000439832:A273T;ENSP00000441973:A295T;ENSP00000443520:A298T	ENSP00000308927:A295T	A	-	1	0	SOX5	23709654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.185000	0.65076	1.436000	0.47453	0.655000	0.94253	GCT	.		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		T	23818387	C	T	23818387	3	4	62	1	0	0	0	0	1	0	0	0	14999	739	26	3	1415	3	SOX5	12	23818387	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1748420	23818387	110033508	915	13283											
FAR2	55711	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	29446360	29446360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttctctcctgtacaaAcataatatttcactgtgcag	7	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:29446360A>G	ENST00000536681.3	+	3	563	c.317A>G	c.(316-318)aAc>aGc	p.N106S	FAR2_ENST00000182377.4_Missense_Mutation_p.N106S|FAR2_ENST00000547116.1_Missense_Mutation_p.N9S|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	106					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)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTGTACAAACATAATATTT	0.423																																					p.N106S		.											.	FAR2-90	0			c.A317G						.						134	134	134					12																	29446360		2203	4300	6503	SO:0001583	missense	55711	exon3			GTACAAACATAAT	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.317A>G	12.37:g.29446360A>G	ENSP00000443291:p.Asn106Ser	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	80	34	NM_018099	0	0	0	0	0	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	A	8.836	0.941015	0.18281	.	.	ENSG00000064763	ENST00000551451;ENST00000536681;ENST00000182377;ENST00000547116	T;T;T;T	0.41400	1.0;2.0;2.0;2.0	5.43	5.43	0.79202	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.046402	0.85682	D	0.000000	T	0.34629	0.0904	N	0.20807	0.61	0.46981	D	0.999271	P	0.37688	0.605	P	0.46172	0.506	T	0.09465	-1.0673	10	0.09338	T	0.73	-6.3419	13.436	0.61084	1.0:0.0:0.0:0.0	.	106	Q96K12	FACR2_HUMAN	S	9;106;106;9	ENSP00000450117:N9S;ENSP00000443291:N106S;ENSP00000182377:N106S;ENSP00000449349:N9S	ENSP00000182377:N106S	N	+	2	0	FAR2	29337627	1.000000	0.71417	0.031000	0.17742	0.050000	0.14768	8.327000	0.90012	2.060000	0.61445	0.533000	0.62120	AAC	.		0.423	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		G	29446360	A	G	29446360	3	3	62	1	0	0	0	0	1	0	0	0	5697	43	2	4	323	4	FAR2	12	29446360	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	5627973	29446360	104405535	916	13284											
PKP2	5318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32996207	32996207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggcgtgagccaccgcGcccggccagccattcctact	10	17	0	1	rs377424658	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:32996207G>A	ENST00000070846.6	-	6	1443	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	473					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gagccaccgcgcccggccAGC	0.552													G|||	2	0.000399361	0	0	5008	,	,		16917	0.002		0	False		,,,				2504	0				p.G473G		.											.	PKP2-92	0			c.C1419T						.						60	60	60					12																	32996207		2203	4300	6503	SO:0001819	synonymous_variant	5318	exon6			CACCGCGCCCGGC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1419C>T	12.37:g.32996207G>A		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	44	19	NM_004572	0	0	0	0	0	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	CCDS8731.1																																																																																			.		0.552	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	32996207	G	A	32996207	2	1	62	1	0	0	0	0	0	0	0	1	12024	1074	38	1		1	PKP2	12	32996207	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3549847	32996207	100855688	917	13285											
TMEM117	84216	bcgsc.ca	37	chr12	44238546	44238546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaacttcttaatatttgCggaggacccagtttctcata	6	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:44238546C>T	ENST00000266534.3	+	2	219	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMEM117_ENST00000551577.1_Missense_Mutation_p.A31V|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTAATATTTGCGGAGGACCCA	0.393																																					p.A31V		.											.	TMEM117-90	0			c.C92T						.						168	167	167					12																	44238546		2203	4300	6503	SO:0001583	missense	84216	exon2			TATTTGCGGAGGA	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.92C>T	12.37:g.44238546C>T	ENSP00000266534:p.Ala31Val	Somatic	96	3		WXS	Illumina GAIIx	Phase_I	119	40	NM_032256	0	0	3	4	1		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573422	0.96553	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56444	0.46;0.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.71133	-0.4681	10	0.54805	T	0.06	-13.2772	19.9019	0.96988	0.0:1.0:0.0:0.0	.	31;31	F8VS00;Q9H0C3	.;TM117_HUMAN	V	31	ENSP00000448595:A31V;ENSP00000266534:A31V	ENSP00000266534:A31V	A	+	2	0	TMEM117	42524813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.732000	0.84908	2.781000	0.95711	0.650000	0.86243	GCG	.		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		T	44238546	C	T	44238546	3	4	62	1	0	0	0	0	1	0	0	0	16078	768	27	1	94	1	TMEM117	12	44238546	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	11242339	44238546	89613349	918	13286											
SLC38A1	81539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	46591521	46591521	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccaaattctttgagttccTttatctccatcctggtctgt	5	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:46591521T>A	ENST00000398637.5	-	16	2038	c.1344A>T	c.(1342-1344)aaA>aaT	p.K448N	SLC38A1_ENST00000549049.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000546893.1_Missense_Mutation_p.K448N	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	448					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)			TTTGAGTTCCTTTATCTCCAT	0.328																																					p.K448N		.											.	SLC38A1-518	0			c.A1344T						.						154	156	155					12																	46591521		1805	4082	5887	SO:0001583	missense	81539	exon16			AGTTCCTTTATCT	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.1344A>T	12.37:g.46591521T>A	ENSP00000381634:p.Lys448Asn	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	82	41	NM_030674	0	0	0	1	1	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076264	0.55646	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02472	4.32;4.32;4.32;4.32;4.28	5.95	-2.09	0.07232	.	0.354917	0.27198	N	0.020477	T	0.02119	0.0066	N	0.25890	0.77	0.22521	N	0.999023	P;B	0.41265	0.744;0.27	B;B	0.38327	0.271;0.127	T	0.46652	-0.9176	10	0.30854	T	0.27	-0.0449	10.7568	0.46241	0.0:0.3908:0.0:0.6092	.	448;448	F8VX04;Q9H2H9	.;S38A1_HUMAN	N	448	ENSP00000449607:K448N;ENSP00000398142:K448N;ENSP00000381634:K448N;ENSP00000447853:K448N;ENSP00000449756:K448N	ENSP00000381634:K448N	K	-	3	2	SLC38A1	44877788	0.536000	0.26378	0.863000	0.33907	0.974000	0.67602	0.703000	0.25646	-0.622000	0.05626	-0.263000	0.10527	AAA	.		0.328	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			A	46591521	T	A	46591521	3	1	62	1	0	0	0	0	1	0	0	0	14646	1606	56	5	127	5	SLC38A1	12	46591521	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2352975	46591521	87260374	919	13287											
SLC38A2	54407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	46756130	46756130	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatagaaggcagaaggAagaataaaaatcaacataga	9	3	1	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:46756130A>T	ENST00000256689.5	-	15	1803	c.1359T>A	c.(1357-1359)ctT>ctA	p.L453L	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.L291L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	453					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AGGCAGAAGGAAGAATAAAAA	0.328																																					p.L453L	Ovarian(9;448 492 8335 28722 40361)	.											.	SLC38A2-226	0			c.T1359A						.						69	63	65					12																	46756130		2203	4296	6499	SO:0001819	synonymous_variant	54407	exon15			AGAAGGAAGAATA	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1359T>A	12.37:g.46756130A>T		Somatic	103	0		WXS	Illumina GAIIx	Phase_I	125	45	NM_018976	0	0	14	24	10	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																			.		0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			T	46756130	A	T	46756130	2	4	62	1	0	0	0	0	0	0	0	1	14649	233	9	5		5	SLC38A2	12	46756130	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	164609	46756130	87095765	920	13288											
FAM113B	91523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	47629462	47629462	+	Frame_Shift_Del	DEL	A	A	-													acagcgccaccgaggcacgtAaacataacttcgatgtactg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:47629462delA	ENST00000546455.1	+	4	1347	c.616delA	c.(616-618)aaafs	p.K206fs	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Frame_Shift_Del_p.K206fs			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	206							hydrolase activity (GO:0016787)										CGAGGCACGTAAACATAACTT	0.587																																					p.K206fs		.											.	.	0			c.616delA						.						35	26	29					12																	47629462		2200	4297	6497	SO:0001589	frameshift_variant	91523	exon2			GCACGTAAACATA	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.616delA	12.37:g.47629462delA	ENSP00000446688:p.Lys206fs	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	91	32	NM_138371	0	0	0	0	0	Q96B20	Frame_Shift_Del	DEL	ENST00000546455.1	37	CCDS8752.1																																																																																			.		0.587	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		-	47629462	A	-	47629462	7	5	62	1	0	1	0	1	0	0	0	0	5421	363	13	0	618	0	FAM113B	12	47629462	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	873332	47629462	86222433	921	13289											
COL2A1	1280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	48383041	48383041	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccagggaagccaggAccaccagcaggaccgacagg	15	13	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:48383041A>T	ENST00000380518.3	-	18	1256	c.1092T>A	c.(1090-1092)ggT>ggA	p.G364G	COL2A1_ENST00000337299.6_Silent_p.G295G|COL2A1_ENST00000493991.1_5'Flank	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	364	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAAGCCAGGACCACCAGCAG	0.602																																					p.G364G		.											.	COL2A1-92	0			c.T1092A						.						108	101	103					12																	48383041		2203	4300	6503	SO:0001819	synonymous_variant	1280	exon18			GCCAGGACCACCA	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1092T>A	12.37:g.48383041A>T		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	127	46	NM_001844	0	0	0	0	0	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	CCDS41778.1																																																																																			.		0.602	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		T	48383041	A	T	48383041	2	4	62	1	0	0	0	0	0	0	0	1	3694	262	10	5		5	COL2A1	12	48383041	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	753579	48383041	85468854	922	13290											
COL2A1	1280	hgsc.bcm.edu;bcgsc.ca	37	chr12	48391429	48391429	+	Frame_Shift_Del	DEL	G	G	-													caggggggccgggaggaccaGgggggccaggatttccaggg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:48391429delG	ENST00000380518.3	-	7	655	c.491delC	c.(490-492)cctfs	p.P164fs	COL2A1_ENST00000337299.6_Frame_Shift_Del_p.P95fs	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	164					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	gggaggaccaggggggccagg	0.562																																					p.P164fs		.											.	COL2A1-92	0			c.491delC						.						39	43	42					12																	48391429		2202	4300	6502	SO:0001589	frameshift_variant	1280	exon7			GGACCAGGGGGGC	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.491delC	12.37:g.48391429delG	ENSP00000369889:p.Pro164fs	Somatic	96	2		WXS	Illumina GAIIx	Phase_I	146	57	NM_001844	0	0	0	0	0	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Frame_Shift_Del	DEL	ENST00000380518.3	37	CCDS41778.1																																																																																			.		0.562	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		-	48391429	G	-	48391429	7	5	62	1	0	1	0	1	0	0	0	0	3694	1000	35	0	4164	0	COL2A1	12	48391429	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	8388	48391429	85460466	923	13291											
ADCY6	112	hgsc.bcm.edu	37	chr12	49177012	49177012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcccctccggatgaagGcgtcatcctgccaggggcac	14	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49177012G>T	ENST00000307885.4	-	1	900	c.206C>A	c.(205-207)gCc>gAc	p.A69D	ADCY6_ENST00000357869.3_Missense_Mutation_p.A69D|ADCY6_ENST00000550422.1_Missense_Mutation_p.A69D	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	69					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)|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)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|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)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGGATGAAGGCGTCATCCTG	0.716																																					p.A69D		.											.	ADCY6-90	0			c.C206A						.						18	21	20					12																	49177012		2186	4254	6440	SO:0001583	missense	112	exon2			ATGAAGGCGTCAT		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.206C>A	12.37:g.49177012G>T	ENSP00000311405:p.Ala69Asp	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	55	22	NM_020983	0	0	0	0	0	Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859185	0.32884	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77489	-1.1;-1.1;-1.1	5.13	4.23	0.50019	.	0.418634	0.26366	N	0.024782	T	0.58991	0.2161	N	0.08118	0	0.30413	N	0.778857	B;B	0.21905	0.062;0.0	B;B	0.20955	0.032;0.001	T	0.54351	-0.8307	10	0.22706	T	0.39	.	14.1406	0.65318	0.0:0.17:0.83:0.0	.	69;69	O43306-2;O43306	.;ADCY6_HUMAN	D	69	ENSP00000350536:A69D;ENSP00000446730:A69D;ENSP00000311405:A69D	ENSP00000311405:A69D	A	-	2	0	ADCY6	47463279	0.819000	0.29175	0.923000	0.36655	0.692000	0.40212	1.812000	0.38952	1.377000	0.46286	0.561000	0.74099	GCC	.		0.716	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		T	49177012	G	T	49177012	3	4	62	1	0	0	0	0	1	0	0	0	298	1203	42	3	3384	3	ADCY6	12	49177012	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	785583	49177012	84674883	924	13292											
WNT1	7471	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	49375164	49375164	+	Frame_Shift_Del	DEL	C	C	-													cccggcccacaaaccgccctCcccccacgacctcgtctact							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49375164delC	ENST00000293549.3	+	4	890	c.854delC	c.(853-855)tccfs	p.S285fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	285					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AAACCGCCCTCCCCCCACGAC	0.701																																					p.S285fs		.											.	WNT1-1083	0			c.854delC						.						14	16	15					12																	49375164		2172	4245	6417	SO:0001589	frameshift_variant	7471	exon4			CGCCCTCCCCCCA	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.854delC	12.37:g.49375164delC	ENSP00000293549:p.Ser285fs	Somatic	34	0		WXS	Illumina GAIIx	Phase_I	133	58	NM_005430	0	0	0	0	0	Q5U0N2	Frame_Shift_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																			.		0.701	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			-	49375164	C	-	49375164	7	5	62	1	0	1	0	1	0	0	0	0	17430	855	30	0	868	0	WNT1	12	49375164	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	198152	49375164	84476731	925	13293											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	49416426	49416426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgttccgaatgatggTgccaatgtactcgataacca	8	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49416426T>C	ENST00000301067.7	-	51	16284	c.16285A>G	c.(16285-16287)Acc>Gcc	p.T5429A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5429	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAATGATGGTGCCAATGTAC	0.547																																					p.T5429A		.											.	MLL2-612	0			c.A16285G						.						186	192	190					12																	49416426		2032	4170	6202	SO:0001583	missense	8085	exon51			TGATGGTGCCAAT	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.16285A>G	12.37:g.49416426T>C	ENSP00000301067:p.Thr5429Ala	Somatic	236	0		WXS	Illumina GAIIx	Phase_I	297	34	NM_003482	1	0	39	43	3	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968577	0.34754	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85556	-2.0;-2.0	5.09	5.09	0.68999	SET domain (3);	0.000000	0.38548	N	0.001643	D	0.85839	0.5790	N	0.16368	0.405	0.50171	D	0.999853	D	0.76494	0.999	D	0.72625	0.978	D	0.88317	0.2960	10	0.87932	D	0	.	14.1527	0.65398	0.0:0.0:0.0:1.0	.	5429	O14686	MLL2_HUMAN	A	5429;110	ENSP00000301067:T5429A;ENSP00000435714:T110A	ENSP00000301067:T5429A	T	-	1	0	MLL2	47702693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.289000	0.72696	2.059000	0.61396	0.482000	0.46254	ACC	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49416426	T	C	49416426	3	2	62	1	0	0	0	0	1	0	0	0	9659	1696	59	4	344	4	MLL2	12	49416426	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	41262	49416426	84435469	926	13294											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49437705	49437705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttgcgccctcgccgCtgttgcttcttcttctcatc	6	17	5	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49437705C>T	ENST00000301067.7	-	22	5264	c.5265G>A	c.(5263-5265)caG>caA	p.Q1755Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1755					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)										GCCCTCGCCGCTGTTGCTTCT	0.582											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q1755Q		.											.	MLL2-612	0			c.G5265A						.						171	178	176					12																	49437705		2144	4251	6395	SO:0001819	synonymous_variant	8085	exon22			TCGCCGCTGTTGC	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.5265G>A	12.37:g.49437705C>T		Somatic	161	0	962	WXS	Illumina GAIIx	Phase_I	212	92	NM_003482	0	0	2	4	2	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49437705	C	T	49437705	2	4	62	1	0	0	0	0	0	0	0	1	9659	796	28	3		3	MLL2	12	49437705	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	21279	49437705	84414190	927	13295											
LMBR1L	55716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49491821	49491821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgcgttgtagaggaaCacaatgtagaaattgcccag	12	7	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49491821C>T	ENST00000267102.8	-	16	1650	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	LMBR1L_ENST00000395141.4_Silent_p.V431V|LMBR1L_ENST00000547382.1_Silent_p.V416V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	436					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTAGAGGAACACAATGTAGA	0.562											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V436V		.											.	LMBR1L-227	0			c.G1308A						.						149	143	145					12																	49491821		2203	4300	6503	SO:0001819	synonymous_variant	55716	exon16			GAGGAACACAATG	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1308G>A	12.37:g.49491821C>T		Somatic	95	0	962	WXS	Illumina GAIIx	Phase_I	150	48	NM_018113	0	0	6	16	10	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																			.		0.562	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		T	49491821	C	T	49491821	2	4	62	1	0	0	0	0	0	0	0	1	8871	465	17	3		3	LMBR1L	12	49491821	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	54116	49491821	84360074	928	13296											
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	50867901	50867901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgagggcaagtactgCttcaccatgtaataataaca	8	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:50867901C>T	ENST00000398473.2	+	15	1899	c.1787C>T	c.(1786-1788)gCt>gTt	p.A596V	LARP4_ENST00000293618.8_Missense_Mutation_p.A525V|LARP4_ENST00000347328.5_Missense_Mutation_p.A525V|LARP4_ENST00000518444.1_Missense_Mutation_p.A595V|LARP4_ENST00000429001.3_Missense_Mutation_p.A602V	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	596					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						GCAAGTACTGCTTCACCATGT	0.358																																					p.A596V		.											.	LARP4-91	0			c.C1787T						.						169	164	165					12																	50867901		1862	4104	5966	SO:0001583	missense	113251	exon15			GTACTGCTTCACC	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.1787C>T	12.37:g.50867901C>T	ENSP00000381490:p.Ala596Val	Somatic	149	0		WXS	Illumina GAIIx	Phase_I	205	81	NM_052879	0	0	7	15	8	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726575	0.30593	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000347328	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.13	3.23	0.37069	.	0.497939	0.21358	N	0.075852	T	0.35537	0.0935	L	0.54323	1.7	0.19775	N	0.999957	B;B;B;B;B;B	0.31548	0.001;0.003;0.006;0.015;0.058;0.328	B;B;B;B;B;B	0.30495	0.005;0.006;0.009;0.009;0.013;0.116	T	0.26985	-1.0087	10	0.45353	T	0.12	.	9.4237	0.38567	0.0:0.8921:0.0:0.1079	.	6;595;525;525;596;602	Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	V	525;602;596;595;525	ENSP00000293618:A525V;ENSP00000415464:A602V;ENSP00000381490:A596V;ENSP00000429077:A595V;ENSP00000340901:A525V	ENSP00000293618:A525V	A	+	2	0	LARP4	49154168	0.960000	0.32886	1.000000	0.80357	0.348000	0.29142	2.021000	0.41020	2.298000	0.77334	0.446000	0.29264	GCT	.		0.358	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		T	50867901	C	T	50867901	3	4	62	1	0	0	0	0	1	0	0	0	8658	797	28	3	1849	3	LARP4	12	50867901	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1376080	50867901	82983994	929	13297											
KRT84	3890	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52777465	52777465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctccaactgcctccGcaggttggtgatgtagctct	10	14	1	1	rs370908162		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:52777465G>A	ENST00000257951.3	-	2	730	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	222	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACTGCCTCCGCAGGTTGGTG	0.547																																					p.R222W		.											.	KRT84-91	0			c.C664T						.	G	TRP/ARG	0,4406		0,0,2203	71	67	68		664	2.2	1	12		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT84	NM_033045.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/601	52777465	1,13005	2203	4300	6503	SO:0001583	missense	3890	exon2			GCCTCCGCAGGTT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.664C>T	12.37:g.52777465G>A	ENSP00000257951:p.Arg222Trp	Somatic	94	1		WXS	Illumina GAIIx	Phase_I	92	50	NM_033045	0	0	0	0	0	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148115	0.57151	0.0	1.16E-4	ENSG00000161849	ENST00000257951	D	0.93019	-3.15	5.32	2.24	0.28232	Filament (1);	0.154193	0.30565	N	0.009351	D	0.96390	0.8822	M	0.85462	2.755	0.32485	N	0.540933	D	0.89917	1.0	D	0.78314	0.991	D	0.96795	0.9585	10	0.72032	D	0.01	.	13.2345	0.59961	0.0:0.0:0.356:0.644	.	222	Q9NSB2	KRT84_HUMAN	W	222	ENSP00000257951:R222W	ENSP00000257951:R222W	R	-	1	2	KRT84	51063732	0.049000	0.20398	0.977000	0.42913	0.468000	0.32798	0.774000	0.26675	0.887000	0.36136	0.655000	0.94253	CGG	.		0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52777465	G	A	52777465	3	1	62	1	0	0	0	0	1	0	0	0	8525	1086	38	1	1170	1	KRT84	12	52777465	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1909564	52777465	81074430	930	13298											
ESPL1	9700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53673526	53673526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccagcccatgcaggCtctggaggtcctcctgctgc	12	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:53673526C>T	ENST00000257934.4	+	12	2466	c.2375C>T	c.(2374-2376)gCt>gTt	p.A792V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A792V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	792					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						CCCATGCAGGCTCTGGAGGTC	0.592																																					p.A792V	Colon(53;1069 1201 2587 5382)	.											.	ESPL1-228	0			c.C2375T						.						110	107	108					12																	53673526		2203	4300	6503	SO:0001583	missense	9700	exon12			TGCAGGCTCTGGA	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.2375C>T	12.37:g.53673526C>T	ENSP00000257934:p.Ala792Val	Somatic	37	0		WXS	Illumina GAIIx	Phase_I	71	28	NM_012291	0	0	0	0	0		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216093	0.58452	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17691	2.26;2.26	5.08	5.08	0.68730	.	0.111706	0.64402	D	0.000010	T	0.29256	0.0728	M	0.72118	2.19	0.42105	D	0.991357	B;P	0.48589	0.419;0.912	B;P	0.47673	0.199;0.554	T	0.04915	-1.0918	10	0.66056	D	0.02	.	15.5222	0.75874	0.0:1.0:0.0:0.0	.	3;792	B4DRU1;Q14674	.;ESPL1_HUMAN	V	792;467;792	ENSP00000257934:A792V;ENSP00000449831:A792V	ENSP00000257934:A792V	A	+	2	0	ESPL1	51959793	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.673000	0.54591	2.635000	0.89317	0.551000	0.68910	GCT	.		0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53673526	C	T	53673526	3	4	62	1	0	0	0	0	1	0	0	0	5269	797	28	3	2417	3	ESPL1	12	53673526	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	896061	53673526	80178369	931	13299											
OR9K2	441639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	55523992	55523992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccatggcttatgaccGctttattgccatctgcaacc	10	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:55523992G>A	ENST00000305377.5	+	1	528	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTTATGACCGCTTTATTGCC	0.502																																					p.R147H		.											.	OR9K2-69	0			c.G440A						.						116	112	113					12																	55523992		2203	4300	6503	SO:0001583	missense	441639	exon1			ATGACCGCTTTAT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.440G>A	12.37:g.55523992G>A	ENSP00000307598:p.Arg147His	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	86	32	NM_001005243	0	0	0	0	0	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425138	0.83667	.	.	ENSG00000170605	ENST00000305377	T	0.77489	-1.1	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.126578	0.33572	N	0.004770	D	0.87301	0.6143	M	0.85859	2.78	0.43965	D	0.996644	D	0.76494	0.999	D	0.65140	0.932	D	0.88938	0.3378	10	0.66056	D	0.02	-12.0836	12.6317	0.56661	0.0842:0.0:0.9158:0.0	.	147	Q8NGE7	OR9K2_HUMAN	H	147	ENSP00000307598:R147H	ENSP00000307598:R147H	R	+	2	0	OR9K2	53810259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.366000	0.97143	1.401000	0.46761	0.650000	0.86243	CGC	.		0.502	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			A	55523992	G	A	55523992	3	1	62	1	0	0	0	0	1	0	0	0	11293	1087	38	1	442	1	OR9K2	12	55523992	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1850466	55523992	78327903	932	13300											
SUOX	6821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56397807	56397807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactacatcacacccaacCctatcttcttcacccggaac	2	17	4	0	rs76442086		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56397807C>T	ENST00000394109.3	+	3	1358	c.634C>T	c.(634-636)Cct>Tct	p.P212S	SUOX_ENST00000394115.2_Missense_Mutation_p.P212S|SUOX_ENST00000356124.4_Missense_Mutation_p.P212S|SUOX_ENST00000266971.3_Missense_Mutation_p.P212S|SUOX_ENST00000548274.1_Missense_Mutation_p.P212S|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	212	Moco domain. {ECO:0000250}.				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 matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACACCCAACCCTATCTTCTT	0.547																																					p.P212S		.											.	SUOX-90	0			c.C634T						.						116	107	110					12																	56397807		2203	4300	6503	SO:0001583	missense	6821	exon6			CCCAACCCTATCT	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.634C>T	12.37:g.56397807C>T	ENSP00000377668:p.Pro212Ser	Somatic	209	0		WXS	Illumina GAIIx	Phase_I	241	94	NM_000456	0	0	14	26	12		Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010398	0.35511	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.12	1.28	0.21552	Oxidoreductase, molybdopterin-binding domain (2);	0.195106	0.44097	N	0.000489	D	0.83220	0.5207	N	0.16233	0.39	0.35033	D	0.758937	B	0.16396	0.017	B	0.20384	0.029	T	0.71951	-0.4437	10	0.20046	T	0.44	-3.2399	5.2816	0.15678	0.0:0.5462:0.1385:0.3153	.	212	P51687	SUOX_HUMAN	S	212	ENSP00000348440:P212S;ENSP00000266971:P212S;ENSP00000377674:P212S;ENSP00000450245:P212S;ENSP00000377668:P212S	ENSP00000266971:P212S	P	+	1	0	SUOX	54684074	1.000000	0.71417	0.940000	0.37924	0.977000	0.68977	2.208000	0.42797	0.139000	0.18822	0.591000	0.81541	CCT	.		0.547	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		T	56397807	C	T	56397807	3	4	62	1	0	0	0	0	1	0	0	0	15442	623	22	3	644	3	SUOX	12	56397807	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	873815	56397807	77454088	933	13301											
ANKRD52	283373	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	56638929	56638930	+	Frame_Shift_Ins	INS	-	-	C													ggggtttccttccaggtacgINSaaaacgggctgtgttcaagt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56638929_56638930insC	ENST00000267116.7	-	22	2570_2571	c.2449_2450insG	c.(2449-2451)tcgfs	p.S817fs	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	817										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCCAGGTACGAAAACGGGCTG	0.52																																					p.S817fs		.											.	ANKRD52-70	0			c.2450_2451insG						.																																			SO:0001589	frameshift_variant	283373	exon22			AGGTACGAAAACG	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2449_2450insG	12.37:g.56638929_56638930insC	ENSP00000267116:p.Ser817fs	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	204	81	NM_173595	0	0	0	0	0	A6NE79|B1Q2K2	Frame_Shift_Ins	INS	ENST00000267116.7	37	CCDS44920.1																																																																																			.		0.52	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		C	56638930	-	C	56638929	7	5	62	1	0	1	1	0	0	0	0	0	678	1059	37	0	808	0	ANKRD52	12	56638929	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	241122	56638929	77212966	934	13302	129	2									
ANKRD52	283373	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr12	56638934	56638934	+	Silent	SNP	C	C	G													tttccttccaggtacgaaaaCgggctgtgttcaagtaacaa							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56638934C>G	ENST00000267116.7	-	22	2566	c.2445G>C	c.(2443-2445)ccG>ccC	p.P815P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522																																					p.P815P		.											.	ANKRD52-70	0			c.G2445C						.						185	166	172					12																	56638934		2006	4189	6195	SO:0001819	synonymous_variant	283373	exon22			CGAAAACGGGCTG	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2445G>C	12.37:g.56638934C>G		Somatic	146	0		WXS	Illumina GAIIx	Phase_I	197	85	NM_173595	0	0	5	5	0	A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	CCDS44920.1																																																																																			.		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		G	56638934	C	G	56638934	2	3	62	1	0	0	0	0	0	0	0	1	678	523	19	2		2	ANKRD52	12	56638934	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5	56638934	77212961	935	13303	129	2									
CS	1431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56676360	56676360	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatgggaaggcagagctgcCctctttgcccactcttttga	10	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56676360C>G	ENST00000351328.3	-	6	622	c.432G>C	c.(430-432)agG>agC	p.R144S	CS_ENST00000548567.1_Missense_Mutation_p.R78S|CS_ENST00000542324.2_Missense_Mutation_p.R131S	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	144					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCAGAGCTGCCCTCTTTGCCC	0.498																																					p.R144S		.											.	CS-226	0			c.G432C						.						71	67	68					12																	56676360		2203	4300	6503	SO:0001583	missense	1431	exon6			AGCTGCCCTCTTT		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.432G>C	12.37:g.56676360C>G	ENSP00000342056:p.Arg144Ser	Somatic	205	0		WXS	Illumina GAIIx	Phase_I	249	93	NM_004077	0	0	187	347	160	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665233	0.67700	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554;ENST00000551473;ENST00000547298;ENST00000551137;ENST00000550655;ENST00000551968;ENST00000550159	.	.	.	4.94	3.1	0.35709	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.92923	3.36	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.989;0.989;0.989	D;P;P;P	0.80764	0.994;0.87;0.87;0.83	D	0.83595	0.0125	9	0.66056	D	0.02	-19.9874	10.9159	0.47135	0.0:0.8513:0.0:0.1487	.	78;131;99;144	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	S	78;144;131;69;78;78;78;78;108;94;78;78;78;144;116;78	.	ENSP00000342056:R144S	R	-	3	2	CS	54962627	0.744000	0.28250	1.000000	0.80357	0.998000	0.95712	-0.129000	0.10515	0.754000	0.32968	0.650000	0.86243	AGG	.		0.498	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		G	56676360	C	G	56676360	3	3	62	1	0	0	0	0	1	0	0	0	3931	622	22	3	992	3	CS	12	56676360	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	37426	56676360	77175535	936	13304											
BAZ2A	11176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56994876	56994876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccaccaccagcctgagCacatctctgtgagcagatga	9	13	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56994876C>T	ENST00000551812.1	-	22	4500	c.4307G>A	c.(4306-4308)tGc>tAc	p.C1436Y	BAZ2A_ENST00000379441.3_Missense_Mutation_p.C1406Y|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Missense_Mutation_p.C1434Y|BAZ2A_ENST00000179765.5_Missense_Mutation_p.C1404Y	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1436					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCAGCCTGAGCACATCTCTGT	0.572																																					p.C1436Y		.											.	BAZ2A-22	0			c.G4307A						.						43	46	45					12																	56994876		2106	4229	6335	SO:0001583	missense	11176	exon22			CCTGAGCACATCT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4307G>A	12.37:g.56994876C>T	ENSP00000446880:p.Cys1436Tyr	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	213	99	NM_013449	0	0	0	0	0	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	3.551	-0.091765	0.07053	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	4.72	0.59763	.	0.808768	0.11667	N	0.541242	T	0.52058	0.1711	L	0.36672	1.1	0.39184	D	0.962832	B;B;B	0.20671	0.047;0.009;0.047	B;B;B	0.18263	0.021;0.017;0.021	T	0.50432	-0.8829	10	0.49607	T	0.09	-19.9998	9.2053	0.37285	0.0:0.8142:0.0:0.1858	.	1434;1436;1409	F8VU39;Q9UIF9;Q9UIF9-2	.;BAZ2A_HUMAN;.	Y	1406;1404;1436;1434	ENSP00000368754:C1406Y;ENSP00000179765:C1404Y;ENSP00000446880:C1436Y;ENSP00000447941:C1434Y	ENSP00000179765:C1404Y	C	-	2	0	BAZ2A	55281143	0.998000	0.40836	0.990000	0.47175	0.945000	0.59286	0.948000	0.29096	1.444000	0.47605	0.655000	0.94253	TGC	.		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		T	56994876	C	T	56994876	3	4	62	1	0	0	0	0	1	0	0	0	1332	710	25	3	1442	3	BAZ2A	12	56994876	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	318516	56994876	76857019	937	13305											
NACA	4666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57113354	57113354	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggagccaccccggcagggtCagcactttccaaaggaaatg	13	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57113354C>T	ENST00000454682.1	-	3	2241	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.D611N|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	654	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						CCGGCAGGGTCAGCACTTTCC	0.483			T	BCL6	NHL																																p.D611N		.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA-254	0			c.G1831A						.						41	40	40					12																	57113354		1568	3582	5150	SO:0001583	missense	4666	exon4			CAGGGTCAGCACT	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.1960G>A	12.37:g.57113354C>T	ENSP00000403817:p.Asp654Asn	Somatic	48	0		WXS	Illumina GAIIx	Phase_I	60	32	NM_001113203	0	0	1	1	0		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.719068	0.48622	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952	T;T;T	0.52754	0.96;0.65;0.96	3.31	-1.25	0.09405	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.15122	-1.0448	9	0.37606	T	0.19	.	3.1215	0.06392	0.0:0.3465:0.2229:0.4306	.	654;611	E9PAV3;F8VU71	.;.	N	11;654;611	ENSP00000448039:D11N;ENSP00000403817:D654N;ENSP00000448035:D611N	ENSP00000403817:D654N	D	-	1	0	NACA	55399621	0.000000	0.05858	0.001000	0.08648	0.583000	0.36354	-0.105000	0.10907	0.042000	0.15717	-0.480000	0.04831	GAC	.		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		T	57113354	C	T	57113354	3	4	62	1	0	0	0	0	1	0	0	0	10171	826	29	3	4304	3	NACA	12	57113354	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	118478	57113354	76738541	938	13306											
HSD17B6	8630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57167811	57167811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcttgagagtgctggctGcgtgtctgacggagaagggg	20	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57167811G>A	ENST00000554643.1	+	3	524	c.175G>A	c.(175-177)Gcg>Acg	p.A59T	HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	59					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGTGCTGGCTGCGTGTCTGAC	0.602																																					p.A59T		.											.	HSD17B6-92	0			c.G175A						.						55	56	55					12																	57167811		2203	4300	6503	SO:0001583	missense	8630	exon2			CTGGCTGCGTGTC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.175G>A	12.37:g.57167811G>A	ENSP00000451406:p.Ala59Thr	Somatic	165	0		WXS	Illumina GAIIx	Phase_I	220	102	NM_003725	0	0	0	0	0	O43275	Missense_Mutation	SNP	ENST00000554643.1	37	CCDS8925.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684128	0.68157	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	D;D;D;T;D;D;D	0.87491	-2.26;-2.26;-2.26;-0.78;-2.26;-2.26;-2.26	5.08	5.08	0.68730	NAD(P)-binding domain (1);	0.217532	0.30043	N	0.010557	T	0.75133	0.3808	N	0.05280	-0.08	0.42513	D	0.992976	B	0.33826	0.427	B	0.39617	0.305	T	0.72523	-0.4267	10	0.21540	T	0.41	.	11.2404	0.48966	0.0851:0.0:0.9149:0.0	.	59	O14756	H17B6_HUMAN	T	59	ENSP00000450698:A59T;ENSP00000451753:A59T;ENSP00000451406:A59T;ENSP00000452103:A59T;ENSP00000452273:A59T;ENSP00000451497:A59T;ENSP00000318631:A59T	ENSP00000318631:A59T	A	+	1	0	HSD17B6	55454078	0.778000	0.28640	0.966000	0.40874	0.575000	0.36095	4.192000	0.58378	2.810000	0.96702	0.655000	0.94253	GCG	.		0.602	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		A	57167811	G	A	57167811	3	1	62	1	0	0	0	0	1	0	0	0	7414	1319	46	3	177	3	HSD17B6	12	57167811	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	54457	57167811	76684084	939	13307											
ZBTB39	9880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57397418	57397418	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatcgttggggtggacaatGatgttgttctcaaatattcc	12	6	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57397418G>A	ENST00000300101.2	-	2	1369	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGTGGACAATGATGTTGTTCT	0.517																																					p.I428I		.											.	ZBTB39-135	0			c.C1284T						.						55	51	52					12																	57397418		2203	4300	6503	SO:0001819	synonymous_variant	9880	exon2			GACAATGATGTTG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1284C>T	12.37:g.57397418G>A		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	94	47	NM_014830	0	0	2	2	0	A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	CCDS31839.1																																																																																			.		0.517	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		A	57397418	G	A	57397418	2	1	62	1	0	0	0	0	0	0	0	1	17588	1280	45	3		3	ZBTB39	12	57397418	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	229607	57397418	76454477	940	13308											
STAT6	6778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57493582	57493582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacatgggcaatggtgAtgcccccaatctctgagtcg	13	10	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57493582A>G	ENST00000300134.3	-	15	2037	c.1712T>C	c.(1711-1713)aTc>aCc	p.I571T	STAT6_ENST00000543873.2_Missense_Mutation_p.I571T|STAT6_ENST00000537215.2_Missense_Mutation_p.I461T|STAT6_ENST00000556155.1_Missense_Mutation_p.I571T|STAT6_ENST00000538913.2_Missense_Mutation_p.I461T|STAT6_ENST00000454075.3_Missense_Mutation_p.I571T	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	571	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAATGGTGATGCCCCCAAT	0.552																																					p.I571T		.											.	STAT6-849	0			c.T1712C						.						54	50	51					12																	57493582		2203	4300	6503	SO:0001583	missense	6778	exon15			ATGGTGATGCCCC	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.1712T>C	12.37:g.57493582A>G	ENSP00000300134:p.Ile571Thr	Somatic	191	0		WXS	Illumina GAIIx	Phase_I	279	136	NM_001178079	0	0	64	135	71	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466209	0.84425	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	D;D;D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-4.31	4.92	4.92	0.64577	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	D	0.99399	1.0927	10	0.87932	D	0	-24.8103	12.5465	0.56203	1.0:0.0:0.0:0.0	.	571;571	A8K4S9;P42226	.;STAT6_HUMAN	T	571;461;461;571;571;461;571;461;571;137	ENSP00000300134:I571T;ENSP00000445409:I461T;ENSP00000438451:I571T;ENSP00000451742:I571T;ENSP00000444530:I461T;ENSP00000401486:I571T;ENSP00000450921:I137T	ENSP00000300134:I571T	I	-	2	0	STAT6	55779849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.062000	0.61559	0.533000	0.62120	ATC	.		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		G	57493582	A	G	57493582	3	3	62	1	0	0	0	0	1	0	0	0	15317	333	12	4	863	4	STAT6	12	57493582	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	96164	57493582	76358313	941	13309											
LRP1	4035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57560791	57560791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgtgtgatctggatgAcgactgtggggaccgctctg	16	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57560791A>G	ENST00000243077.3	+	18	3342	c.2876A>G	c.(2875-2877)gAc>gGc	p.D959G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	959	LDL-receptor class A 5. {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)	GATCTGGATGACGACTGTGGG	0.652																																					p.D959G		.											.	LRP1-596	0			c.A2876G						.						154	133	140					12																	57560791		2203	4300	6503	SO:0001583	missense	4035	exon18			TGGATGACGACTG	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.2876A>G	12.37:g.57560791A>G	ENSP00000243077:p.Asp959Gly	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	163	72	NM_002332	0	0	4	12	8	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169281	0.78339	.	.	ENSG00000123384	ENST00000243077	D	0.95821	-3.82	4.72	4.72	0.59763	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97631	1.0142	10	0.51188	T	0.08	.	13.6177	0.62120	1.0:0.0:0.0:0.0	.	959	Q07954	LRP1_HUMAN	G	959	ENSP00000243077:D959G	ENSP00000243077:D959G	D	+	2	0	LRP1	55847058	1.000000	0.71417	0.941000	0.38009	0.707000	0.40811	9.115000	0.94336	2.117000	0.64856	0.459000	0.35465	GAC	.		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		G	57560791	A	G	57560791	3	3	62	1	0	0	0	0	1	0	0	0	8986	275	10	4	2946	4	LRP1	12	57560791	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	67209	57560791	76291104	942	13310											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57579466	57579466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacctgctctactcagagCgcaccattctcaagagtatc	7	14	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57579466C>T	ENST00000243077.3	+	41	7082	c.6616C>T	c.(6616-6618)Cgc>Tgc	p.R2206C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2206					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)	CTACTCAGAGCGCACCATTCT	0.642																																					p.R2206C		.											.	LRP1-596	0			c.C6616T						.						84	66	72					12																	57579466		2203	4300	6503	SO:0001583	missense	4035	exon41			TCAGAGCGCACCA	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.6616C>T	12.37:g.57579466C>T	ENSP00000243077:p.Arg2206Cys	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	137	70	NM_002332	0	0	13	23	10	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219013	0.95104	.	.	ENSG00000123384	ENST00000243077	D	0.91740	-2.9	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96775	0.8947	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97755	1.0217	10	0.72032	D	0.01	.	16.448	0.83947	0.0:1.0:0.0:0.0	.	2206	Q07954	LRP1_HUMAN	C	2206	ENSP00000243077:R2206C	ENSP00000243077:R2206C	R	+	1	0	LRP1	55865733	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.954000	0.56708	2.172000	0.68678	0.491000	0.48974	CGC	.		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57579466	C	T	57579466	3	4	62	1	0	0	0	0	1	0	0	0	8986	768	27	1	6778	1	LRP1	12	57579466	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	18675	57579466	76272429	943	13311											
USP15	9958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	62783220	62783220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttttagtacaaagtgGttgtccccaaaattggaaac	8	6	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:62783220G>A	ENST00000280377.5	+	12	1541	c.1483G>A	c.(1483-1485)Gtt>Att	p.V495I	USP15_ENST00000353364.3_Missense_Mutation_p.V466I|USP15_ENST00000393654.3_Missense_Mutation_p.V470I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	495	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTACAAAGTGGTTGTCCCCAA	0.323																																					p.V495I	Melanoma(181;615 2041 39364 49691 50001)	.											.	USP15-1084	0			c.G1483A						.						80	81	80					12																	62783220		2203	4300	6503	SO:0001583	missense	9958	exon12			AAAGTGGTTGTCC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1483G>A	12.37:g.62783220G>A	ENSP00000280377:p.Val495Ile	Somatic	30	0		WXS	Illumina GAIIx	Phase_I	32	15	NM_001252078	0	0	0	1	1	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620588	0.28801	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19394	2.15;2.16;2.15	5.94	1.94	0.25998	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.555888	0.19307	N	0.117484	T	0.09862	0.0242	N	0.11560	0.145	0.24535	N	0.994093	B;B	0.12630	0.006;0.001	B;B	0.17722	0.019;0.007	T	0.36187	-0.9758	9	.	.	.	-5.719	8.425	0.32723	0.3891:0.0:0.6109:0.0	.	495;466	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	I	466;495;470	ENSP00000258123:V466I;ENSP00000280377:V495I;ENSP00000377264:V470I	.	V	+	1	0	USP15	61069487	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.832000	0.39151	0.079000	0.16929	0.561000	0.74099	GTT	.		0.323	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		A	62783220	G	A	62783220	3	1	62	1	0	0	0	0	1	0	0	0	17095	1261	44	3	1438	3	USP15	12	62783220	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5203754	62783220	71068675	944	13312											
AVPR1A	552	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	63544037	63544037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggtgacattgttcaCctcgatcatggagaagacga	12	9	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:63544037C>T	ENST00000299178.2	-	1	685	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	194					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACATTGTTCACCTCGATCATG	0.647																																					p.V194M		.											.	AVPR1A-946	0			c.G580A						.						59	59	59					12																	63544037		2203	4299	6502	SO:0001583	missense	552	exon1			TGTTCACCTCGAT	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.580G>A	12.37:g.63544037C>T	ENSP00000299178:p.Val194Met	Somatic	169	2		WXS	Illumina GAIIx	Phase_I	249	109	NM_000706	0	0	2	2	0		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734330	0.69189	.	.	ENSG00000166148	ENST00000299178	T	0.38077	1.16	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.63558	0.2521	M	0.80616	2.505	0.47905	D	0.999549	D	0.89917	1.0	D	0.83275	0.996	T	0.66260	-0.5968	8	.	.	.	-26.7455	17.7032	0.88301	0.0:1.0:0.0:0.0	.	194	P37288	V1AR_HUMAN	M	194	ENSP00000299178:V194M	.	V	-	1	0	AVPR1A	61830304	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.462000	0.45049	2.416000	0.81992	0.455000	0.32223	GTG	.		0.647	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			T	63544037	C	T	63544037	3	4	62	1	0	0	0	0	1	0	0	0	1232	507	18	3	684	3	AVPR1A	12	63544037	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	760817	63544037	70307858	945	13313											
WIF1	11197	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	65471560	65471560	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcactgttcccagcagaggGacattgacggttggatctgc	14	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:65471560G>A	ENST00000286574.4	-	3	737	c.363C>T	c.(361-363)gtC>gtT	p.V121V		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	121	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCAGCAGAGGGACATTGACGG	0.443			T	HMGA2	pleomorphic salivary gland adenoma																																p.V121V	Esophageal Squamous(148;1595 1816 48559 49439 49664)	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1-1110	0			c.C363T						.						122	102	109					12																	65471560		2203	4300	6503	SO:0001819	synonymous_variant	11197	exon3			CAGAGGGACATTG	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.363C>T	12.37:g.65471560G>A		Somatic	151	1		WXS	Illumina GAIIx	Phase_I	174	73	NM_007191	0	0	0	0	0	Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	CCDS8971.1																																																																																			.		0.443	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			A	65471560	G	A	65471560	2	1	62	1	0	0	0	0	0	0	0	1	17415	1161	41	3		3	WIF1	12	65471560	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1927523	65471560	68380335	946	13314											
MSRB3	253827	broad.mit.edu;bcgsc.ca	37	chr12	65857056	65857056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcaccgccgagggagGcagtggggtcgccagcccgg	19	13	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:65857056G>A	ENST00000355192.3	+	6	659	c.533G>A	c.(532-534)gGc>gAc	p.G178D	MSRB3_ENST00000308259.5_Missense_Mutation_p.G171D|MSRB3_ENST00000535664.1_Missense_Mutation_p.G171D	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	178					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)		GCCGAGGGAGGCAGTGGGGTC	0.502																																					p.G178D		.											.	MSRB3-515	0			c.G533A						.						64	59	61					12																	65857056		2203	4300	6503	SO:0001583	missense	253827	exon6			AGGGAGGCAGTGG	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.533G>A	12.37:g.65857056G>A	ENSP00000347324:p.Gly178Asp	Somatic	95	2		WXS	Illumina GAIIx	Phase_I	117	56	NM_198080	0	0	1	1	0	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928073	0.34002	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.63744	-0.06;-0.04;-0.04	5.76	-4.33	0.03677	.	0.709452	0.13970	N	0.350226	T	0.33323	0.0859	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19289	-1.0310	9	.	.	.	-7.3344	6.974	0.24664	0.4408:0.2032:0.356:0.0	.	178;171	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	D	178;171;171	ENSP00000347324:G178D;ENSP00000312274:G171D;ENSP00000441650:G171D	.	G	+	2	0	MSRB3	64143323	0.008000	0.16893	0.000000	0.03702	0.021000	0.10359	0.276000	0.18716	-0.632000	0.05553	-1.829000	0.00594	GGC	.		0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		A	65857056	G	A	65857056	3	1	62	1	0	0	0	0	1	0	0	0	9927	1203	42	3	635	3	MSRB3	12	65857056	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	385496	65857056	67994839	947	13315											
GRIP1	23426	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-													gaaattgtgatgccaaggggCcccccgtagcgtttaagctc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:66788074delC	ENST00000398016.3	-	16	1955	c.1887delG	c.(1885-1887)gggfs	p.G629fs	GRIP1_ENST00000286445.7_Frame_Shift_Del_p.G681fs|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Frame_Shift_Del_p.G681fs	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGCCAAGGGGCCCCCCGTAGC	0.408																																					p.G629fs		.											.	GRIP1-494	0			c.1887delG						.						97	94	95					12																	66788074		1818	4079	5897	SO:0001589	frameshift_variant	23426	exon16			AAGGGGCCCCCCG	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1887delG	12.37:g.66788074delC	ENSP00000381098:p.Gly629fs	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	74	29	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Frame_Shift_Del	DEL	ENST00000398016.3	37	CCDS41807.1																																																																																			.		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			-	66788074	C	-	66788074	7	5	62	1	0	1	0	1	0	0	0	0	6814	726	26	0	1379	0	GRIP1	12	66788074	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	931018	66788074	67063821	948	13316											
CAND1	55832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	67696266	67696266	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatttaaagagcgtgaagaGaatgtaaaggcagatgtttt	12	2	0	5	rs144692083		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:67696266G>A	ENST00000545606.1	+	8	1601	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	388					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)		AGCGTGAAGAGAATGTAAAGG	0.438																																					p.E388E		.											.	CAND1-516	0			c.G1164A						.						202	178	186					12																	67696266		2203	4300	6503	SO:0001819	synonymous_variant	55832	exon8			TGAAGAGAATGTA		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.1164G>A	12.37:g.67696266G>A		Somatic	137	0		WXS	Illumina GAIIx	Phase_I	136	60	NM_018448	0	0	41	74	33	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	CCDS8977.1																																																																																			G|1.000;C|0.000		0.438	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		A	67696266	G	A	67696266	2	1	62	1	0	0	0	0	0	0	0	1	2622	933	33	3		3	CAND1	12	67696266	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	908192	67696266	66155629	949	13317											
DYRK2	8445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	68051174	68051174	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaagcaatgaagcaaTacatgcaaaaactcacagcc	6	11	1	2	rs539367942		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:68051174T>A	ENST00000344096.3	+	3	900	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.Y90N	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	163					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AATGAAGCAATACATGCAAAA	0.483																																					p.Y163N		.											.	DYRK2-861	0			c.T487A						.						54	51	52					12																	68051174		2203	4300	6503	SO:0001583	missense	8445	exon3			AAGCAATACATGC	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.487T>A	12.37:g.68051174T>A	ENSP00000342105:p.Tyr163Asn	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	82	40	NM_006482	0	0	7	15	8	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228771	0.58777	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555;ENST00000319833;ENST00000542503	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.3	5.3	0.74995	.	0.053572	0.85682	D	0.000000	T	0.66005	0.2746	L	0.59967	1.855	0.80722	D	1	D	0.55800	0.973	P	0.54140	0.743	T	0.66212	-0.5980	9	.	.	.	.	15.5607	0.76244	0.0:0.0:0.0:1.0	.	163	Q92630	DYRK2_HUMAN	N	90;163;90;90;141	ENSP00000440839:Y90N;ENSP00000342105:Y163N;ENSP00000377186:Y90N;ENSP00000324733:Y90N;ENSP00000443314:Y141N	.	Y	+	1	0	DYRK2	66337441	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.040000	0.89188	2.152000	0.67230	0.260000	0.18958	TAC	.		0.483	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			A	68051174	T	A	68051174	3	1	62	1	0	0	0	0	1	0	0	0	4870	1406	49	5	497	5	DYRK2	12	68051174	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	354908	68051174	65800721	950	13318											
FRS2	10818	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	69968573	69968573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctcagactccaaaaacGcctacaactccccttccaca	2	19	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:69968573G>A	ENST00000550389.1	+	7	1611	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	FRS2_ENST00000299293.2_Silent_p.T455T|FRS2_ENST00000549921.1_Silent_p.T455T|FRS2_ENST00000397997.2_Silent_p.T455T	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	455					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCCAAAAACGCCTACAACTC	0.483																																					p.T455T		.											.	FRS2-658	0			c.G1365A						.						93	97	95					12																	69968573		2058	4210	6268	SO:0001819	synonymous_variant	10818	exon10			AAAAACGCCTACA	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1365G>A	12.37:g.69968573G>A		Somatic	146	1		WXS	Illumina GAIIx	Phase_I	180	71	NM_001042555	1	0	9	28	18	B0LPF2|B2R684|O43558|Q7LDQ6	Silent	SNP	ENST00000550389.1	37	CCDS41809.1																																																																																			.		0.483	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		A	69968573	G	A	69968573	2	1	62	1	0	0	0	0	0	0	0	1	6085	1074	38	1		1	FRS2	12	69968573	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1917399	69968573	63883322	951	13319											
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	78334110	78334110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcaacagatttacactgaCtgggccaaccactacctagc	7	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:78334110C>G	ENST00000397909.2	+	2	428	c.255C>G	c.(253-255)gaC>gaG	p.D85E	NAV3_ENST00000536525.2_Missense_Mutation_p.D85E|NAV3_ENST00000266692.7_Missense_Mutation_p.D85E|NAV3_ENST00000228327.6_Missense_Mutation_p.D85E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	85	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					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						TTTACACTGACTGGGCCAACC	0.443										HNSCC(70;0.22)																											p.D85E		.											.	NAV3-279	0			c.C255G						.						157	161	160					12																	78334110		1922	4164	6086	SO:0001583	missense	89795	exon2			CACTGACTGGGCC	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.255C>G	12.37:g.78334110C>G	ENSP00000381007:p.Asp85Glu	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	118	56	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	17.16	3.318738	0.60524	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.6	4.71	0.59529	Calponin homology domain (5);	0.000000	0.40222	U	0.001157	T	0.75517	0.3860	M	0.77820	2.39	0.80722	D	1	P;D	0.64830	0.949;0.994	D;D	0.72982	0.969;0.979	T	0.79300	-0.1860	10	0.87932	D	0	-20.5628	14.2343	0.65916	0.0:0.9284:0.0:0.0716	.	85;85	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	85	ENSP00000446628:D85E;ENSP00000446132:D85E;ENSP00000381007:D85E;ENSP00000228327:D85E;ENSP00000266692:D85E	ENSP00000228327:D85E	D	+	3	2	NAV3	76858241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.362000	0.46000	0.637000	0.83480	GAC	.		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78334110	C	G	78334110	3	3	62	1	0	0	0	0	1	0	0	0	10223	564	20	3	261	3	NAV3	12	78334110	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8365537	78334110	55517785	952	13320											
PPP1R12A	4659	hgsc.bcm.edu;broad.mit.edu	37	chr12	80201041	80201042	+	Frame_Shift_Ins	INS	-	-	T													atccttcattaactgagctaINSttttttttaagatcatcttc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80201041_80201042insT	ENST00000450142.2	-	12	1885_1886	c.1619_1620insA	c.(1618-1620)aatfs	p.N540fs	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.N453fs|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.N540fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	540	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TAACTGAGCTATTTTTTTTAAG	0.302																																					p.N540fs		.											.	PPP1R12A-273	0			c.1620_1621insA						.																																			SO:0001589	frameshift_variant	4659	exon13			TGAGCTATTTTTT	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1620dupA	12.37:g.80201049_80201049dupT	ENSP00000389168:p.Asn540fs	Somatic	16	0		WXS	Illumina GAIIx	Phase_I	28	12	NM_001244990	0	0	0	0	0	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Ins	INS	ENST00000450142.2	37	CCDS44947.1																																																																																			.		0.302	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		T	80201042	-	T	80201041	7	5	62	1	0	1	1	0	0	0	0	0	12396	446	16	0	1528	0	PPP1R12A	12	80201041	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	1866931	80201041	53650854	953	13321											
C12orf64	283310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	80658922	80658922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtgcaatgctcttgCccactatgcctacctctgcg	8	16	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80658922C>T	ENST00000547103.1	+	19	2135	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V	OTOGL_ENST00000458043.2_Missense_Mutation_p.A710V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	710					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						AATGCTCTTGCCCACTATGCC	0.498																																					p.A710V		.											.	.	0			c.C2129T						.						106	106	106					12																	80658922		2048	4221	6269	SO:0001583	missense	283310	exon19			CTCTTGCCCACTA	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.2129C>T	12.37:g.80658922C>T	ENSP00000447211:p.Ala710Val	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	122	48	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.447161	0.84101	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.79454	-1.27;-1.27	5.96	5.03	0.67393	.	.	.	.	.	D	0.91640	0.7358	H	0.94183	3.505	0.49299	D	0.99977	.	.	.	.	.	.	D	0.93372	0.6736	7	0.72032	D	0.01	.	18.8375	0.92168	0.0:0.875:0.125:0.0	.	.	.	.	V	710	ENSP00000447211:A710V;ENSP00000400895:A710V	ENSP00000400895:A710V	A	+	2	0	OTOGL	79183053	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	5.787000	0.69013	2.824000	0.97209	0.655000	0.94253	GCC	.		0.498	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		T	80658922	C	T	80658922	3	4	62	1	0	0	0	0	1	0	0	0	1712	739	26	3	2203	3	C12orf64	12	80658922	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	457881	80658922	53192973	954	13322											
C12orf64	283310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	80665446	80665446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcacatctgcccagaggGaaaagagtatttcgactgca	10	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80665446G>A	ENST00000547103.1	+	23	2516	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	OTOGL_ENST00000458043.2_Missense_Mutation_p.G837E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	837					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						TGCCCAGAGGGAAAAGAGTAT	0.418																																					p.G837E		.											.	.	0			c.G2510A						.						82	81	82					12																	80665446		1905	4108	6013	SO:0001583	missense	283310	exon23			CAGAGGGAAAAGA	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.2510G>A	12.37:g.80665446G>A	ENSP00000447211:p.Gly837Glu	Somatic	141	0		WXS	Illumina GAIIx	Phase_I	179	83	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.592380	0.86953	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.31510	1.49;1.49	5.35	5.35	0.76521	.	.	.	.	.	T	0.55178	0.1904	M	0.74881	2.28	0.80722	D	1	.	.	.	.	.	.	T	0.56703	-0.7935	7	0.59425	D	0.04	.	19.4259	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	E	837	ENSP00000447211:G837E;ENSP00000400895:G837E	ENSP00000400895:G837E	G	+	2	0	OTOGL	79189577	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.860000	0.92272	2.662000	0.90505	0.655000	0.94253	GGA	.		0.418	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80665446	G	A	80665446	3	1	62	1	0	0	0	0	1	0	0	0	1712	1174	41	3	2600	3	C12orf64	12	80665446	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6524	80665446	53186449	955	13323											
C12orf26	84190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	82780603	82780603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgattttcccaaaaTattttgtgaaacttctcaga	5	7	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:82780603T>C	ENST00000248306.3	+	2	350	c.281T>C	c.(280-282)aTa>aCa	p.I94T	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	94							methyltransferase activity (GO:0008168)										TTTCCCAAAATATTTTGTGAA	0.328																																					p.I94T		.											.	.	0			c.T281C						.						76	79	78					12																	82780603		2203	4299	6502	SO:0001583	missense	84190	exon2			CCAAAATATTTTG	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.281T>C	12.37:g.82780603T>C	ENSP00000248306:p.Ile94Thr	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	41	14	NM_032230	0	0	5	7	2	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.11|18.11	3.550629|3.550629	0.65311|0.65311	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000248306;ENST00000548200|ENST00000550058	T|.	0.32023|.	1.47|.	6.14|6.14	5.0|5.0	0.66597|0.66597	.|.	0.296144|.	0.42964|.	D|.	0.000639|.	T|T	0.57242|0.57242	0.2040|0.2040	M|M	0.74881|0.74881	2.28|2.28	0.25078|0.25078	N|N	0.990946|0.990946	D|.	0.63880|.	0.993|.	P|.	0.58520|.	0.84|.	T|T	0.52238|0.52238	-0.8602|-0.8602	10|5	0.13853|.	T|.	0.58|.	-6.8932|-6.8932	10.0905|10.0905	0.42445|0.42445	0.0:0.0761:0.0:0.9239|0.0:0.0761:0.0:0.9239	.|.	94|.	Q8N6Q8|.	CL026_HUMAN|.	T|H	94|53	ENSP00000248306:I94T|.	ENSP00000248306:I94T|.	I|Y	+|+	2|1	0|0	C12orf26|C12orf26	81304734|81304734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	2.147000|2.147000	0.42226|0.42226	1.160000|1.160000	0.42584|0.42584	0.529000|0.529000	0.55759|0.55759	ATA|TAT	.		0.328	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		C	82780603	T	C	82780603	3	2	62	1	0	0	0	0	1	0	0	0	1684	1406	49	4	287	4	C12orf26	12	82780603	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2115157	82780603	51071292	956	13324											
C12orf12	196477	broad.mit.edu	37	chr12	91348097	91348098	+	Frame_Shift_Ins	INS	-	-	T													ggcctctgcggccccagcgcINSttcttcctgcctgggggctt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:91348097_91348098insT	ENST00000358859.2	-	1	855_856	c.422_423insA	c.(421-423)aagfs	p.K141fs	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	141																	GGCCCCAGCGCTTCTTCCTGCC	0.703																																					p.K141fs		.											.	.	0			c.423_424insA						.																																			SO:0001589	frameshift_variant	196477	exon1			CCAGCGCTTCTTC	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.423dupA	12.37:g.91348099_91348099dupT	ENSP00000351727:p.Lys141fs	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	7	3	NM_152638	0	0	0	0	0	Q8TC47	Frame_Shift_Ins	INS	ENST00000358859.2	37	CCDS9036.1																																																																																			.		0.703	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		T	91348098	-	T	91348097	7	5	62	1	0	1	1	0	0	0	0	0	1681	796	28	0	801	0	C12orf12	12	91348097	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	8567494	91348097	42503798	957	13325											
NUDT4	11163	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	93793069	93793069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgttccccagccaatggaAattctacagtcccttccctt	6	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:93793069A>T	ENST00000415493.2	+	5	884	c.457A>T	c.(457-459)Aat>Tat	p.N153Y	NUDT4_ENST00000549992.1_Missense_Mutation_p.N101Y|NUDT4_ENST00000547014.1_Missense_Mutation_p.N102Y|NUDT4_ENST00000337179.5_Missense_Mutation_p.N154Y|NUDT4_ENST00000548662.1_Missense_Mutation_p.N101Y	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	153					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AGCCAATGGAAATTCTACAGT	0.448																																					p.N154Y		.											.	NUDT4-90	0			c.A460T						.						158	164	162					12																	93793069		2203	4300	6503	SO:0001583	missense	11163	exon5			AATGGAAATTCTA	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"Nudix motif containing"	8051	protein-coding gene	gene with protein product	"diphosphoinositol polyphosphate phosphohydrolase type 2"	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.457A>T	12.37:g.93793069A>T	ENSP00000406612:p.Asn153Tyr	Somatic	230	0		WXS	Illumina GAIIx	Phase_I	313	38	NM_199040	0	0	90	90	0	B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198877	0.58126	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T	0.33438	1.42;1.41	5.53	5.53	0.82687	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	N	0.24115	0.695	0.80722	D	1	P;P	0.45283	0.855;0.774	P;P	0.59056	0.851;0.713	T	0.35076	-0.9803	10	0.87932	D	0	-17.6889	15.9523	0.79850	1.0:0.0:0.0:0.0	.	154;153	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	Y	154;153;101;101;102;101	ENSP00000338352:N154Y;ENSP00000406612:N153Y	ENSP00000338352:N154Y	N	+	1	0	NUDT4	92317200	1.000000	0.71417	0.858000	0.33744	0.086000	0.17979	8.387000	0.90167	2.226000	0.72624	0.533000	0.62120	AAT	.		0.448	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		T	93793069	A	T	93793069	3	4	62	1	0	0	0	0	1	0	0	0	10780	14	1	5	478	5	NUDT4	12	93793069	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2444972	93793069	40058826	958	13326											
CCDC41	51134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	94725525	94725525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccttagcttgattgTacttttcttctctgtctgtg	7	9	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:94725525T>C	ENST00000397809.5	-	14	2207	c.1658A>G	c.(1657-1659)tAc>tGc	p.Y553C	CCDC41_ENST00000339839.5_Missense_Mutation_p.Y553C|CCDC41_ENST00000397807.2_Missense_Mutation_p.Y520C	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		545					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AGCTTGATTGTACTTTTCTTC	0.438																																					p.Y553C		.											.	CCDC41-90	0			c.A1658G						.						294	265	274					12																	94725525		1908	4121	6029	SO:0001583	missense	51134	exon14			TGATTGTACTTTT																												ENST00000397809.5:c.1658A>G	12.37:g.94725525T>C	ENSP00000380911:p.Tyr553Cys	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	84	26	NM_016122	0	0	3	7	4	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334028	0.24253	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.55760	1.81;1.81;1.81;0.5	5.79	3.43	0.39272	.	.	.	.	.	T	0.66177	0.2763	L	0.59436	1.845	0.38782	D	0.954784	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64871	-0.6305	9	0.46703	T	0.11	-0.006	11.5269	0.50584	0.0:0.136:0.0:0.864	.	520;545	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	C	17;553;553;520	ENSP00000447094:Y17C;ENSP00000344655:Y553C;ENSP00000380911:Y553C;ENSP00000380909:Y520C	ENSP00000344655:Y553C	Y	-	2	0	CCDC41	93249656	1.000000	0.71417	0.992000	0.48379	0.006000	0.05464	3.231000	0.51294	0.124000	0.18369	-1.139000	0.01908	TAC	.		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			C	94725525	T	C	94725525	3	2	62	1	0	0	0	0	1	0	0	0	2820	1638	57	4	463	4	CCDC41	12	94725525	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	932456	94725525	39126370	959	13327											
NTN4	59277	broad.mit.edu	37	chr12	96077421	96077421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagggcagtcaccattgCtggggtcgcagaaggtcact	14	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96077421C>T	ENST00000343702.4	-	6	1695	c.1247G>A	c.(1246-1248)aGc>aAc	p.S416N	NTN4_ENST00000553059.1_Missense_Mutation_p.S416N|NTN4_ENST00000538383.1_Missense_Mutation_p.S379N|NTN4_ENST00000344911.4_Missense_Mutation_p.S379N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	416	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCACCATTGCTGGGGTCGCA	0.572																																					p.S416N		.											.	NTN4-92	0			c.G1247A						.						94	69	77					12																	96077421		2203	4300	6503	SO:0001583	missense	59277	exon6			CCATTGCTGGGGT	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1247G>A	12.37:g.96077421C>T	ENSP00000340998:p.Ser416Asn	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	185	6	NM_021229	0	0	29	29	0	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592450	0.28357	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.74	4.82	0.62117	EGF-like, laminin (3);	0.257343	0.46758	D	0.000274	T	0.46946	0.1419	N	0.20445	0.575	0.34249	D	0.678506	B;B	0.18610	0.029;0.02	B;B	0.23018	0.025;0.043	T	0.51371	-0.8714	10	0.18710	T	0.47	.	15.19	0.73035	0.0:0.7366:0.2634:0.0	.	416;416	Q9HB63-2;Q9HB63	.;NET4_HUMAN	N	416;379;379;416	ENSP00000340998:S416N;ENSP00000339436:S379N;ENSP00000444432:S379N;ENSP00000447292:S416N	ENSP00000340998:S416N	S	-	2	0	NTN4	94601552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.788000	0.26872	2.723000	0.93209	0.591000	0.81541	AGC	.		0.572	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		T	96077421	C	T	96077421	3	4	62	1	0	0	0	0	1	0	0	0	10741	797	28	3	659	3	NTN4	12	96077421	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1351896	96077421	37774474	960	13328											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgaggcgacatggcaAgcggccacagcctcctgctg	15	15	0	0	rs7955450	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2	3	3					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	8	NM_152435	0	0	0	4	4	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96337183	A	G	96337183	3	3	62	1	0	0	0	0	1	0	0	0	567	72	3	4	9	4	AMDHD1	12	96337183	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	259762	96337183	37514712	961	13329											
AMDHD1	144193	hgsc.bcm.edu	37	chr12	96337225	96337225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgcgcagcaagtggtgCtggtgtgcgcccgcggcgag	18	11	0	1	rs1436121	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3	4	4		49	1.4	1	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	19	8	NM_152435	0	0	2	4	2	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		T	96337225	C	T	96337225	2	4	62	1	0	0	0	0	0	0	0	1	567	796	28	3		3	AMDHD1	12	96337225	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	42	96337225	37514670	962	13330											
APAF1	317	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	99061321	99061321	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaagataatcactcagtttCagagatatcaccagccgcat	7	10	4	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:99061321C>T	ENST00000551964.1	+	10	2129	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q454*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q454*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q465*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.Q465*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q465*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q465*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	465					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)	CACTCAGTTTCAGAGATATCA	0.413																																					p.Q465X		.											.	APAF1-229	0			c.C1393T						.						141	132	135					12																	99061321		2203	4300	6503	SO:0001587	stop_gained	317	exon10			CAGTTTCAGAGAT	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.1393C>T	12.37:g.99061321C>T	ENSP00000448165:p.Gln465*	Somatic	71	1		WXS	Illumina GAIIx	Phase_I	88	45	NM_181868	0	0	2	2	0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	41	9.001259	0.99031	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.33	5.33	0.75918	.	0.105364	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1473	12.2306	0.54486	0.2884:0.7116:0.0:0.0	.	.	.	.	X	465;454;465;465;454;465;465	.	ENSP00000341830:Q465X	Q	+	1	0	APAF1	97585452	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	4.319000	0.59197	2.498000	0.84270	0.460000	0.39030	CAG	.		0.413	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		T	99061321	C	T	99061321	4	4	62	1	0	0	0	0	0	1	0	0	755	827	29	3	1427	3	APAF1	12	99061321	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2724096	99061321	34790574	963	13331											
CHST11	50515	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	105150884	105150884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacgagctcatctactGctacgtgcccaaggtggcct	11	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:105150884G>A	ENST00000303694.5	+	3	801	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	CHST11_ENST00000549260.1_Missense_Mutation_p.C116Y	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	121					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTCATCTACTGCTACGTGCCC	0.632																																					p.C121Y		.											.	CHST11-90	0			c.G362A						.						67	58	61					12																	105150884		2203	4300	6503	SO:0001583	missense	50515	exon3			TCTACTGCTACGT	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.362G>A	12.37:g.105150884G>A	ENSP00000305725:p.Cys121Tyr	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	255	103	NM_018413	0	1	17	37	19	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321391	0.81580	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.78364	-1.17;-1.17;-1.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94415	0.7635	10	0.87932	D	0	-8.2034	19.4315	0.94772	0.0:0.0:1.0:0.0	.	116;121	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Y	116;121;81	ENSP00000450004:C116Y;ENSP00000305725:C121Y;ENSP00000449095:C81Y	ENSP00000305725:C121Y	C	+	2	0	CHST11	103675014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	TGC	.		0.632	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		A	105150884	G	A	105150884	3	1	62	1	0	0	0	0	1	0	0	0	3406	1319	46	3	372	3	CHST11	12	105150884	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6089563	105150884	28701011	964	13332											
UBE3B	89910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	109959270	109959270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggggatgagaggctgTacccctcacccacatcctac	10	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:109959270T>C	ENST00000342494.3	+	21	2873	c.2278T>C	c.(2278-2280)Tac>Cac	p.Y760H	UBE3B_ENST00000434735.2_Missense_Mutation_p.Y760H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	760	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGAGAGGCTGTACCCCTCACC	0.527																																					p.Y760H		.											.	UBE3B-660	0			c.T2278C						.						97	84	89					12																	109959270		2203	4300	6503	SO:0001583	missense	89910	exon21			AGGCTGTACCCCT	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.2278T>C	12.37:g.109959270T>C	ENSP00000340596:p.Tyr760His	Somatic	145	0		WXS	Illumina GAIIx	Phase_I	133	64	NM_130466	0	0	14	32	18	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997770	0.93227	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.58797	0.31;0.31;0.31	5.18	5.18	0.71444	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77872	-0.2426	10	0.87932	D	0	-25.1058	14.3635	0.66789	0.0:0.0:0.0:1.0	.	760	Q7Z3V4	UBE3B_HUMAN	H	760;760;760;187;55	ENSP00000391529:Y760H;ENSP00000443131:Y760H;ENSP00000340596:Y760H	ENSP00000340596:Y760H	Y	+	1	0	UBE3B	108443653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.478000	0.81082	2.168000	0.68352	0.533000	0.62120	TAC	.		0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		C	109959270	T	C	109959270	3	2	62	1	0	0	0	0	1	0	0	0	16929	1638	57	4	2352	4	UBE3B	12	109959270	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4808386	109959270	23892625	965	13333											
MMAB	326625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	109998890	109998890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggcagaaatgcagcgccGagctgatcttgcctcccgac	11	16	1	2	rs368584846		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:109998890G>A	ENST00000545712.2	-	7	932	c.539C>T	c.(538-540)tCg>tTg	p.S180L	MMAB_ENST00000540016.1_Missense_Mutation_p.S128L|MMAB_ENST00000266839.5_Missense_Mutation_p.S89L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	180					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCAGCGCCGAGCTGATCTT	0.642																																					p.S180L		.											.	MMAB-90	0			c.C539T	GRCh37	CM061123	MMAB	M		.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53	52	52		539	3	0.1	12		52	0,8600		0,0,4300	no	missense	MMAB	NM_052845.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	180/251	109998890	1,13005	2203	4300	6503	SO:0001583	missense	326625	exon7			AGCGCCGAGCTGA	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.539C>T	12.37:g.109998890G>A	ENSP00000445920:p.Ser180Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	117	57	NM_052845	0	0	24	39	15	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690284	0.48097	2.27E-4	0.0	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95412	-2.77;-3.7	4.91	3.05	0.35203	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.410282	0.25349	N	0.031317	D	0.96827	0.8964	M	0.81802	2.56	0.27682	N	0.946404	D;D;D	0.65815	0.987;0.991;0.995	P;P;P	0.59171	0.853;0.75;0.75	D	0.92739	0.6206	10	0.72032	D	0.01	-4.7551	12.893	0.58082	0.0:0.3128:0.6872:0.0	.	89;180;180	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	L	180;89	ENSP00000445920:S180L;ENSP00000266839:S89L	ENSP00000266839:S89L	S	-	2	0	MMAB	108483273	0.938000	0.31826	0.054000	0.19295	0.113000	0.19764	5.580000	0.67464	0.638000	0.30545	-0.181000	0.13052	TCG	.		0.642	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			A	109998890	G	A	109998890	3	1	62	1	0	0	0	0	1	0	0	0	9678	1059	37	1	225	1	MMAB	12	109998890	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	39620	109998890	23853005	966	13334											
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	110221440	110221440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtccctagagcggggcgtCatcagtcctccacttgcggg	13	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:110221440C>T	ENST00000418703.2	-	15	2696	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	TRPV4_ENST00000537083.1_Missense_Mutation_p.D808N|TRPV4_ENST00000544971.1_Missense_Mutation_p.D761N|TRPV4_ENST00000536838.1_Missense_Mutation_p.D834N|TRPV4_ENST00000346520.2_Missense_Mutation_p.D808N|TRPV4_ENST00000541794.1_Missense_Mutation_p.D821N|TRPV4_ENST00000392719.2_Missense_Mutation_p.D821N|TRPV4_ENST00000261740.2_Missense_Mutation_p.D868N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	868					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						AGCGGGGCGTCATCAGTCCTC	0.642																																					p.D868N		.											.	TRPV4-94	0			c.G2602A						.						57	54	55					12																	110221440		2203	4300	6503	SO:0001583	missense	59341	exon16			GGGCGTCATCAGT	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.2602G>A	12.37:g.110221440C>T	ENSP00000406191:p.Asp868Asn	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	77	7	NM_021625	0	0	1	1	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686274	0.47991	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.37;-2.59;-2.39;-2.59;-2.37;-2.61	5.33	3.5	0.40072	.	0.297069	0.27627	N	0.018531	D	0.85944	0.5815	N	0.22421	0.69	0.09310	N	1	B;B;B;P;P	0.52061	0.119;0.421;0.096;0.95;0.557	B;B;B;P;B	0.48334	0.05;0.118;0.036;0.574;0.172	T	0.78695	-0.2104	10	0.72032	D	0.01	-3.0755	10.06	0.42268	0.0:0.8318:0.0:0.1682	.	808;868;761;821;834	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	N	868;868;821;808;761;808;821;834	ENSP00000406191:D868N;ENSP00000261740:D868N;ENSP00000376480:D821N;ENSP00000319003:D808N;ENSP00000443611:D761N;ENSP00000442738:D808N;ENSP00000442167:D821N;ENSP00000444336:D834N	ENSP00000261740:D868N	D	-	1	0	TRPV4	108705823	0.008000	0.16893	0.006000	0.13384	0.783000	0.44284	1.272000	0.33109	0.618000	0.30179	0.511000	0.50034	GAC	.		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		T	110221440	C	T	110221440	3	4	62	1	0	0	0	0	1	0	0	0	16646	826	29	3	17	3	TRPV4	12	110221440	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	222550	110221440	23630455	967	13335											
C12orf24	29902	hgsc.bcm.edu	37	chr12	110906720	110906720	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcacacggctcgcggtctcGgcgccgcggagatgcccggc	16	17	1	1	rs368560327	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:110906720G>C	ENST00000377673.5	+	1	552	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R	GPN3_ENST00000543199.1_5'Flank|GPN3_ENST00000228827.3_5'Flank|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	14																	TCGCGGTCTCGGCGCCGCGGA	0.736													G|||	8	0.00159744	0	0	5008	,	,		13151	0		0.001	False		,,,				2504	0.0072				p.G14R		.											.	.	0			c.G40C						.	G	ARG/GLY	1,3699		0,1,1849	3	3	3		40	2.6	0	12		3	5,7205		0,5,3600	no	missense	C12orf24	NM_013300.2	125	0,6,5449	CC,CG,GG		0.0693,0.027,0.055	probably-damaging	14/274	110906720	6,10904	1850	3605	5455	SO:0001583	missense	29902	exon1			GGTCTCGGCGCCG	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 24"	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.40G>C	12.37:g.110906720G>C	ENSP00000366901:p.Gly14Arg	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	30	16	NM_013300	0	0	2	3	1	A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279608	0.40294	2.7E-4	6.93E-4	ENSG00000204856	ENST00000377673;ENST00000538285	T	0.52983	0.64	3.56	2.64	0.31445	.	.	.	.	.	T	0.55893	0.1949	L	0.44542	1.39	0.23386	N	0.997788	D;D	0.67145	0.996;0.996	D;D	0.65233	0.933;0.933	T	0.42224	-0.9464	9	0.66056	D	0.02	-1.0555	9.4976	0.38997	0.0:0.0:0.7881:0.2119	.	14;14	F5GZE4;Q8WUB2	.;CL024_HUMAN	R	14	ENSP00000366901:G14R	ENSP00000366901:G14R	G	+	1	0	C12orf24	109391103	0.060000	0.20803	0.019000	0.16419	0.071000	0.16799	1.147000	0.31602	0.796000	0.33947	0.462000	0.41574	GGC	.		0.736	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		C	110906720	G	C	110906720	3	2	62	1	0	0	0	0	1	0	0	0	1683	1116	39	2	42	2	C12orf24	12	110906720	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	685280	110906720	22945175	968	13336											
ACAD10	80724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112171864	112171864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatccagttttcccgTgctgagaggtaggaactgct	11	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:112171864T>C	ENST00000313698.4	+	11	1687	c.1532T>C	c.(1531-1533)gTg>gCg	p.V511A	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.V511A|ACAD10_ENST00000392636.2_Missense_Mutation_p.V113A|ACAD10_ENST00000455480.2_Missense_Mutation_p.V542A	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	511				V -> M (in Ref. 3; AL832043). {ECO:0000305}.		mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTTTTCCCGTGCTGAGAGGT	0.562																																					p.V542A		.											.	ACAD10-92	0			c.T1625C						.						85	71	76					12																	112171864		2203	4300	6503	SO:0001583	missense	80724	exon12			TTCCCGTGCTGAG	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1532T>C	12.37:g.112171864T>C	ENSP00000325137:p.Val511Ala	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	98	36	NM_001136538	0	0	0	0	0	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626318	0.28978	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	D;T;D;D	0.96073	-3.9;3.35;-3.48;-3.48	5.13	5.13	0.70059	Protein kinase-like domain (1);	1.642380	0.03212	N	0.176309	D	0.90570	0.7044	N	0.16567	0.415	0.09310	N	1	B;B;B	0.22604	0.003;0.002;0.072	B;B;B	0.21708	0.007;0.01;0.036	T	0.78214	-0.2291	10	0.07325	T	0.83	.	10.2034	0.43099	0.0:0.0805:0.0:0.9195	.	542;511;511	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	A	113;511;511;542;511	ENSP00000376411:V113A;ENSP00000446959:V511A;ENSP00000389813:V542A;ENSP00000325137:V511A	ENSP00000325137:V511A	V	+	2	0	ACAD10	110656247	0.356000	0.24930	0.032000	0.17829	0.153000	0.21895	3.045000	0.49838	1.938000	0.56188	0.533000	0.62120	GTG	.		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		C	112171864	T	C	112171864	3	2	62	1	0	0	0	0	1	0	0	0	108	1696	59	4	1667	4	ACAD10	12	112171864	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1265144	112171864	21680031	969	13337											
DTX1	1840	bcgsc.ca	37	chr12	113496054	113496054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtctgggcttcccaccGcagaacgtggcccgggtggt	15	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:113496054G>A	ENST00000257600.3	+	1	560	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	19	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTCCCACCGCAGAACGTGG	0.667																																					p.P19P		.											.	DTX1-659	0			c.G57A						.						66	55	59					12																	113496054		2202	4299	6501	SO:0001819	synonymous_variant	1840	exon1			CCCACCGCAGAAC	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.57G>A	12.37:g.113496054G>A		Somatic	208	3		WXS	Illumina GAIIx	Phase_I	324	142	NM_004416	0	0	0	0	0	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.		0.667	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			A	113496054	G	A	113496054	2	1	62	1	0	0	0	0	0	0	0	1	4807	1074	38	1		1	DTX1	12	113496054	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1324190	113496054	20355841	970	13338											
PLBD2	196463	broad.mit.edu	37	chr12	113812652	113812652	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctggccctgaacaagacCaagatcaaaccttctctggg	10	12	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:113812652C>A	ENST00000280800.3	+	5	730	c.699C>A	c.(697-699)acC>acA	p.T233T	PLBD2_ENST00000545182.2_Silent_p.T233T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	233					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						TGAACAAGACCAAGATCAAAC	0.597																																					p.T233T		.											.	PLBD2-68	0			c.C699A						.						91	80	84					12																	113812652		2203	4300	6503	SO:0001819	synonymous_variant	196463	exon5			CAAGACCAAGATC	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.699C>A	12.37:g.113812652C>A		Somatic	57	0		WXS	Illumina GAIIx	Phase_I	85	6	NM_173542	0	0	512	513	1	F5H5E2	Silent	SNP	ENST00000280800.3	37	CCDS9168.1																																																																																			.		0.597	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		A	113812652	C	A	113812652	2	1	62	1	0	0	0	0	0	0	0	1	12065	581	21	3		3	PLBD2	12	113812652	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	316598	113812652	20039243	971	13339											
RNFT2	84900	broad.mit.edu;bcgsc.ca	37	chr12	117273791	117273791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctgtggacgtgtgggCggagttaggaaagccctgaa	16	7	1	1	rs192187826		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:117273791C>T	ENST00000257575.4	+	9	1292	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	RNFT2_ENST00000407967.3_Silent_p.G353G|RNFT2_ENST00000392549.2_Silent_p.G353G|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	353						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GACGTGTGGGCGGAGTTAGGA	0.567													C|||	1	0.000199681	0	0	5008	,	,		17626	0.001		0	False		,,,				2504	0				p.G353G		.											.	.	0			c.C1059T						.						157	123	134					12																	117273791		2203	4300	6503	SO:0001819	synonymous_variant	84900	exon9			TGTGGGCGGAGTT	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1059C>T	12.37:g.117273791C>T		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	165	8	NM_001109903	0	0	2	2	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			C|0.999;T|0.000		0.567	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		T	117273791	C	T	117273791	2	4	62	1	0	0	0	0	0	0	0	1	13547	755	27	1		1	RNFT2	12	117273791	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3461139	117273791	16578104	972	13340											
SRRM4	84530	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	119554810	119554810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagaaacacaagcgacGcaggtattgtcctttttctc	7	11	1	1	rs189389386		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:119554810G>A	ENST00000267260.4	+	4	822	c.434G>A	c.(433-435)cGc>cAc	p.R145H	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	145	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACAAGCGACGCAGGTATTGT	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		19092	0		0	False		,,,				2504	0				p.R145H		.											.	SRRM4-2	0			c.G434A						.						65	61	62					12																	119554810		1862	4093	5955	SO:0001583	missense	84530	exon4			AGCGACGCAGGTA	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.434G>A	12.37:g.119554810G>A	ENSP00000267260:p.Arg145His	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	54	26	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.63	2.295298	0.40594	.	.	ENSG00000139767	ENST00000267260	T	0.20598	2.06	5.46	0.983	0.19767	.	0.460997	0.23241	N	0.050348	T	0.04497	0.0123	N	0.00368	-1.59	0.23030	N	0.998402	B	0.02656	0.0	B	0.04013	0.001	T	0.40850	-0.9541	10	0.24483	T	0.36	-5.1774	7.6701	0.28453	0.7251:0.0:0.2749:0.0	.	145	A7MD48	SRRM4_HUMAN	H	145	ENSP00000267260:R145H	ENSP00000267260:R145H	R	+	2	0	SRRM4	118039193	0.993000	0.37304	0.998000	0.56505	0.975000	0.68041	0.139000	0.16036	0.001000	0.14605	-0.140000	0.14226	CGC	G|0.999;A|0.001		0.478	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119554810	G	A	119554810	3	1	62	1	0	0	0	0	1	0	0	0	15218	1087	38	1	448	1	SRRM4	12	119554810	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2281019	119554810	14297085	973	13341											
KDM2B	84678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	121868110	121868110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaactcagtttttgcaggAgtttttcttctacttgccca	6	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:121868110A>G	ENST00000377071.4	-	23	4064	c.3992T>C	c.(3991-3993)cTc>cCc	p.L1331P	KDM2B_ENST00000542973.1_Missense_Mutation_p.L699P|KDM2B_ENST00000377069.4_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.E446G|KDM2B_ENST00000536437.1_3'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1331					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTTGCAGGAGTTTTTCTTC	0.453																																					p.L1331P		.											.	KDM2B-638	0			c.T3992C						.						130	120	123					12																	121868110		1861	4108	5969	SO:0001583	missense	84678	exon23			TGCAGGAGTTTTT	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.3992T>C	12.37:g.121868110A>G	ENSP00000366271:p.Leu1331Pro	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	57	27	NM_032590	0	0	9	26	17	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.037337|4.037337	0.75617|0.75617	.|.	.|.	ENSG00000170633|ENSG00000089094	ENST00000392464|ENST00000397480;ENST00000542973;ENST00000377071;ENST00000540043	T|T;T	0.37058|0.48201	1.22|1.09;0.82	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.47093	.|D	.|0.000252	T|T	0.69088|0.69088	0.3072|0.3072	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;0.988	.|D;D;D	.|0.87578	.|0.974;0.998;0.962	T|T	0.73408|0.73408	-0.3992|-0.3992	6|10	.|0.87932	.|D	.|0	-26.2733|-26.2733	15.5829|15.5829	0.76459|0.76459	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|771;1331;774	.|B7ZB05;Q8NHM5;B4DSN4	.|.;KDM2B_HUMAN;.	G|P	446|1321;699;1331;774	ENSP00000376257:E446G|ENSP00000437821:L699P;ENSP00000366271:L1331P	.|ENSP00000366271:L1331P	E|L	+|-	2|2	0|0	RNF34|KDM2B	120352493|120352493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.281000|9.281000	0.95811|0.95811	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	GAG|CTC	.		0.453	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		G	121868110	A	G	121868110	3	3	62	1	0	0	0	0	1	0	0	0	8152	304	11	4	74	4	KDM2B	12	121868110	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2313300	121868110	11983785	974	13342											
VPS33A	65082	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	122717402	122717402	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcaaagtggggccctggGaggatgcggaggacctcctc	15	12	1	0	rs368453753		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:122717402G>A	ENST00000267199.4	-	12	1666	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	RP11-512M8.5_ENST00000535844.1_Silent_p.L479L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	518					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGGGCCCTGGGAGGATGCGGA	0.587																																					p.L518L		.											.	VPS33A-91	0			c.C1554T						.						47	44	45					12																	122717402		2203	4300	6503	SO:0001819	synonymous_variant	65082	exon12			CCCTGGGAGGATG	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1554C>T	12.37:g.122717402G>A		Somatic	126	0		WXS	Illumina GAIIx	Phase_I	161	80	NM_022916	0	0	30	62	32	Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																			.		0.587	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			A	122717402	G	A	122717402	2	1	62	1	0	0	0	0	0	0	0	1	17250	1161	41	3		3	VPS33A	12	122717402	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	849292	122717402	11134493	975	13343											
ZCCHC8	55596	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	122958256	122958256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagcttctggctgccccCattgctgatgtcacagtttg	10	11	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:122958256C>T	ENST00000336229.4	-	14	2042	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.G400R|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.G400R|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.G249R	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	638					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)		TGGCTGCCCCCATTGCTGATG	0.473																																					p.G638R		.											.	ZCCHC8-90	0			c.G1912A						.						158	158	158					12																	122958256		1947	4146	6093	SO:0001583	missense	55596	exon14			TGCCCCCATTGCT	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.1912G>A	12.37:g.122958256C>T	ENSP00000337313:p.Gly638Arg	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	104	42	NM_017612	0	0	6	9	3	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665679	0.88251	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.47528	0.88;0.88;0.86;0.84	5.88	5.88	0.94601	.	0.422095	0.27613	N	0.018590	T	0.66177	0.2763	M	0.69823	2.125	0.41120	D	0.985807	D	0.65815	0.995	P	0.60345	0.873	T	0.65352	-0.6189	10	0.48119	T	0.1	-22.8091	18.4227	0.90597	0.0:1.0:0.0:0.0	.	638	Q6NZY4	ZCHC8_HUMAN	R	400;400;638;249	ENSP00000441423:G400R;ENSP00000438993:G400R;ENSP00000337313:G638R;ENSP00000440028:G249R	ENSP00000337313:G638R	G	-	1	0	ZCCHC8	121524209	0.223000	0.23663	0.063000	0.19743	0.056000	0.15407	2.335000	0.43929	2.788000	0.95919	0.650000	0.86243	GGG	.		0.473	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		T	122958256	C	T	122958256	3	4	62	1	0	0	0	0	1	0	0	0	17642	594	21	3	215	3	ZCCHC8	12	122958256	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	240854	122958256	10893639	976	13344											
MPHOSPH9	10198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123679054	123679054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcgaatgatggtattgTctttttctttactgcttgtt	8	5	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:123679054T>C	ENST00000606320.1	-	13	2326	c.2120A>G	c.(2119-2121)gAc>gGc	p.D707G	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D677G|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D555G|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D555G			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	707						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GATGGTATTGTCTTTTTCTTT	0.353																																					p.D555G		.											.	MPHOSPH9-514	0			c.A1664G						.						184	155	165					12																	123679054		2203	4300	6503	SO:0001583	missense	10198	exon9			GTATTGTCTTTTT	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2120A>G	12.37:g.123679054T>C	ENSP00000475489:p.Asp707Gly	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	84	33	NM_022782	0	0	2	8	6	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37		.	.	.	.	.	.	.	.	.	.	T	23.0	4.363074	0.82353	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78595	-1.19;-1.19	5.52	5.52	0.82312	.	0.130678	0.49305	D	0.000149	D	0.86740	0.6005	M	0.66939	2.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.79784	0.993	D	0.88082	0.2807	10	0.72032	D	0.01	-20.2099	15.6564	0.77140	0.0:0.0:0.0:1.0	.	555	Q99550	MPP9_HUMAN	G	555	ENSP00000303597:D555G;ENSP00000445859:D555G	ENSP00000303597:D555G	D	-	2	0	MPHOSPH9	122245007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.374000	0.73132	2.100000	0.63781	0.533000	0.62120	GAC	.		0.353	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			C	123679054	T	C	123679054	3	2	62	1	0	0	0	0	1	0	0	0	9766	1667	58	4	1479	4	MPHOSPH9	12	123679054	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	720798	123679054	10172841	977	13345											
DNAH10	196385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	124409717	124409717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcgggtctatcgggccGtgactgactatgtgactgta	14	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:124409717G>A	ENST00000409039.3	+	67	11558	c.11533G>A	c.(11533-11535)Gtg>Atg	p.V3845M	RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3845	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTATCGGGCCGTGACTGACTA	0.502																																					p.V3845M		.											.	DNAH10-95	0			c.G11533A						.						216	207	210					12																	124409717		2001	4176	6177	SO:0001583	missense	196385	exon67			CGGGCCGTGACTG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11533G>A	12.37:g.124409717G>A	ENSP00000386770:p.Val3845Met	Somatic	284	2		WXS	Illumina GAIIx	Phase_I	382	164	NM_207437	0	0	1	1	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925402	0.73213	.	.	ENSG00000197653	ENST00000409039	T	0.09723	2.95	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.17746	0.0426	L	0.41573	1.285	0.80722	D	1	D	0.62365	0.991	P	0.51229	0.663	T	0.01140	-1.1439	10	0.29301	T	0.29	.	19.2839	0.94063	0.0:0.0:1.0:0.0	.	3845	Q8IVF4	DYH10_HUMAN	M	3845	ENSP00000386770:V3845M	ENSP00000386770:V3845M	V	+	1	0	DNAH10	122975670	1.000000	0.71417	0.957000	0.39632	0.939000	0.58152	6.512000	0.73737	2.534000	0.85438	0.561000	0.74099	GTG	.		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124409717	G	A	124409717	3	1	62	1	0	0	0	0	1	0	0	0	4612	1145	40	1	11799	1	DNAH10	12	124409717	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	730663	124409717	9442178	978	13346											
NCOR2	9612	hgsc.bcm.edu	37	chr12	124856730	124856730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccgtggcctcagcgGcctccgcgtccttgcccttg	12	19	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:124856730G>T	ENST00000405201.1	-	20	2645	c.2645C>A	c.(2644-2646)gCc>gAc	p.A882D	NCOR2_ENST00000404621.1_Missense_Mutation_p.A864D|NCOR2_ENST00000429285.2_Missense_Mutation_p.A864D|NCOR2_ENST00000356219.3_Missense_Mutation_p.A882D|NCOR2_ENST00000404121.2_Missense_Mutation_p.A435D|NCOR2_ENST00000397355.1_Missense_Mutation_p.A865D			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	882					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)		GGCCTCAGCGGCCTCCGCGTC	0.721																																					p.A882D		.											.	NCOR2-229	0			c.C2645A						.						37	44	42					12																	124856730		2017	4158	6175	SO:0001583	missense	9612	exon22			TCAGCGGCCTCCG	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.2645C>A	12.37:g.124856730G>T	ENSP00000384018:p.Ala882Asp	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	71	41	NM_006312	0	0	33	68	35	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601757	0.28534	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	4.92	-4.81	0.03180	.	1.697510	0.03334	N	0.193817	T	0.26846	0.0657	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.005;0.005;0.009	B;B;B	0.21360	0.015;0.015;0.034	T	0.38693	-0.9649	10	0.46703	T	0.11	0.276	12.8963	0.58101	0.0:0.6009:0.157:0.2422	.	864;865;882	C9J0Q5;C9J239;C9JFD3	.;.;.	D	882;864;882;865;881;435;864;882	ENSP00000384018:A882D;ENSP00000384202:A864D;ENSP00000348551:A882D;ENSP00000380513:A865D;ENSP00000385618:A435D;ENSP00000400281:A864D;ENSP00000402808:A882D	ENSP00000348551:A882D	A	-	2	0	NCOR2	123422683	0.107000	0.21998	0.000000	0.03702	0.051000	0.14879	2.117000	0.41939	-0.881000	0.03992	0.561000	0.74099	GCC	.		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124856730	G	T	124856730	3	4	62	1	0	0	0	0	1	0	0	0	10275	1203	42	3	5035	3	NCOR2	12	124856730	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	447013	124856730	8995165	979	13347											
AACS	65985	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	125550233	125550233	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatggaccgcttccgggcgGctgtgggcgccgcctgcggc	18	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:125550233G>C	ENST00000316519.6	+	1	309	c.103G>C	c.(103-105)Gct>Cct	p.A35P	AACS_ENST00000261686.6_Missense_Mutation_p.A35P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	35					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CTTCCGGGCGGCTGTGGGCGC	0.716																																					p.A35P		.											.	AACS-92	0			c.G103C						.						13	13	13					12																	125550233		1958	3870	5828	SO:0001583	missense	65985	exon1			CGGGCGGCTGTGG	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.103G>C	12.37:g.125550233G>C	ENSP00000324842:p.Ala35Pro	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	145	44	NM_023928	0	0	9	18	9	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362262	0.61403	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.10192	2.9;2.9;2.9	3.91	3.91	0.45181	.	0.450874	0.23581	N	0.046650	T	0.06234	0.0161	N	0.08118	0	0.29589	N	0.848594	P;P	0.49783	0.928;0.694	B;B	0.44315	0.446;0.26	T	0.11251	-1.0595	10	0.35671	T	0.21	.	8.7837	0.34807	0.1083:0.0:0.8917:0.0	.	35;35	Q86V21-2;Q86V21	.;AACS_HUMAN	P	35	ENSP00000324842:A35P;ENSP00000442691:A35P;ENSP00000261686:A35P	ENSP00000261686:A35P	A	+	1	0	AACS	124116186	0.999000	0.42202	0.963000	0.40424	0.902000	0.53008	3.016000	0.49607	2.003000	0.58678	0.491000	0.48974	GCT	.		0.716	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		C	125550233	G	C	125550233	3	2	62	1	0	0	0	0	1	0	0	0	9	1203	42	3	105	3	AACS	12	125550233	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	693503	125550233	8301662	980	13348											
RIMBP2	23504	hgsc.bcm.edu	37	chr12	130921471	130921471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggtgccctgtggctgTggcaggatgcggctgggtga	20	9	0	1	rs2292663	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000536002.1_Silent_p.P565P|RIMBP2_ENST00000535703.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12	18	16		1971	-0.1	1	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	54	22	NM_015347	0	0	0	0	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		C	130921471	T	C	130921471	2	2	62	1	0	0	0	0	0	0	0	1	13408	1683	59	4		4	RIMBP2	12	130921471	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5371238	130921471	2930424	981	13349											
ULK1	8408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	132401137	132401137	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaagggcccctttggccgGtgagttgaggggacaggcct	16	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:132401137G>T	ENST00000321867.4	+	20	2423		c.e20+1		ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1						autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTTTGGCCGGTGAGTTGAGG	0.662																																					.		.											.	ULK1-758	0			c.2072+1G>T						.						11	14	13					12																	132401137		2169	4269	6438	SO:0001630	splice_region_variant	8408	exon20			TGGCCGGTGAGTT	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2072+1G>T	12.37:g.132401137G>T		Somatic	10	0		WXS	Illumina GAIIx	Phase_I	19	10	NM_003565	0	0	0	2	2	Q9UQ28	Splice_Site	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800407	0.70567	.	.	ENSG00000177169	ENST00000321867;ENST00000541761	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4201	0.94719	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ULK1	130967090	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.293000	0.51779	2.684000	0.91462	0.655000	0.94253	.	.		0.662	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		Intron	T	132401137	G	T	132401137	5	4	62	1	0	0	0	0	0	0	1	0	17024	1275	44	3	2151	3	ULK1	12	132401137	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1479666	132401137	1450758	982	13350											
FLT1	2321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	28883025	28883025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaagttcttcaaaggttttGattctttccaggctcatgaa	7	7	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:28883025G>A	ENST00000282397.4	-	28	3926	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	FLT1_ENST00000540678.1_Silent_p.I443I|FLT1_ENST00000543394.1_Silent_p.I248I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1225					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGGTTTTGATTCTTTCCA	0.408																																					p.I1225I		.											.	FLT1-1406	0			c.C3675T						.						113	97	102					13																	28883025		2203	4300	6503	SO:0001819	synonymous_variant	2321	exon28			GGTTTTGATTCTT	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3675C>T	13.37:g.28883025G>A		Somatic	100	0		WXS	Illumina GAIIx	Phase_I	72	53	NM_002019	0	0	27	27	0	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																			.		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			A	28883025	G	A	28883025	2	1	62	1	0	0	0	0	0	0	0	1	5963	1280	45	3		3	FLT1	13	28883025	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		28883025	86286853	983	13351											
PDS5B	23047	bcgsc.ca	37	chr13	33232435	33232435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatacaaagagcccacaAttcaataggtatttttattt	7	6	1	1	rs2301393	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:33232435A>G	ENST00000315596.10	+	4	558	c.372A>G	c.(370-372)caA>caG	p.Q124Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	124					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGCCCACAATTCAATAGGT	0.269													A|||	1359	0.271366	0.2337	0.3559	5008	,	,		14898	0.1389		0.4702	False		,,,				2504	0.1943				p.Q124Q		.											.	PDS5B-94	0			c.A372G						.	A		973,2617		134,705,956	54	51	52		372	-1.5	1	13	dbSNP_100	52	3475,4649		756,1963,1343	no	coding-synonymous	PDS5B	NM_015032.3		890,2668,2299	GG,GA,AA		42.7745,27.1031,37.9717		124/1448	33232435	4448,7266	1795	4062	5857	SO:0001819	synonymous_variant	23047	exon4			CCCACAATTCAAT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.372A>G	13.37:g.33232435A>G		Somatic	129	0		WXS	Illumina GAIIx	Phase_I	68	4	NM_015032	0	0	11	11	0	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																			A|0.686;G|0.314		0.269	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		G	33232435	A	G	33232435	2	3	62	1	0	0	0	0	0	0	0	1	11731	98	4	4		4	PDS5B	13	33232435	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4349410	33232435	81937443	984	13352											
PDS5B	23047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	33338706	33338706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccggggaaaaaaagtgacAagagagacgactctgatctt	12	7	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:33338706A>C	ENST00000315596.10	+	31	3784	c.3598A>C	c.(3598-3600)Aag>Cag	p.K1200Q	RNY1P4_ENST00000384595.1_RNA	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1200					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGTGACAAGAGAGACGA	0.318																																					p.K1200Q		.											.	PDS5B-94	0			c.A3598C						.						120	114	116					13																	33338706		1843	4090	5933	SO:0001583	missense	23047	exon31			AGTGACAAGAGAG	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3598A>C	13.37:g.33338706A>C	ENSP00000313851:p.Lys1200Gln	Somatic	118	0		WXS	Illumina GAIIx	Phase_I	45	34	NM_015032	0	0	0	9	9	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500750	0.44455	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.53	5.53	0.82687	.	0.152719	0.46145	D	0.000309	T	0.34395	0.0896	N	0.14661	0.345	0.48236	D	0.999619	P	0.43094	0.799	B	0.36666	0.23	T	0.16988	-1.0384	9	0.22706	T	0.39	-2.2634	15.9426	0.79768	1.0:0.0:0.0:0.0	.	1200	Q9NTI5	PDS5B_HUMAN	Q	1200;1200;154	.	ENSP00000313851:K1200Q	K	+	1	0	PDS5B	32236706	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.342000	0.79310	2.213000	0.71641	0.528000	0.53228	AAG	.		0.318	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		C	33338706	A	C	33338706	3	2	62	1	0	0	0	0	1	0	0	0	11731	131	5	5	3716	5	PDS5B	13	33338706	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	106271	33338706	81831172	985	13353											
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	39262894	39262894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaaaacttggtcatcagCgatgaggatgacctagaagc	11	10	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:39262894C>T	ENST00000280481.7	+	1	1629	c.1413C>T	c.(1411-1413)agC>agT	p.S471S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	471					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)		TGGTCATCAGCGATGAGGATG	0.597																																					p.S471S		.											.	FREM2-100	0			c.C1413T						.						49	51	50					13																	39262894		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			CATCAGCGATGAG	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.1413C>T	13.37:g.39262894C>T		Somatic	82	0		WXS	Illumina GAIIx	Phase_I	69	62	NM_207361	0	0	0	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.		0.597	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39262894	C	T	39262894	2	4	62	1	0	0	0	0	0	0	0	1	6069	767	27	1		1	FREM2	13	39262894	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5924188	39262894	75906984	986	13354											
SIAH3	283514	bcgsc.ca	37	chr13	46357696	46357696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcctcccacttgaggCgccgatggtttctgttgagc	14	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:46357696C>T	ENST00000400405.2	-	2	738	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	211					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCACTTGAGGCGCCGATGGTT	0.622																																					p.R211H		.											.	SIAH3-92	0			c.G632A						.						45	51	49					13																	46357696		1994	4140	6134	SO:0001583	missense	283514	exon2			TTGAGGCGCCGAT		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.632G>A	13.37:g.46357696C>T	ENSP00000383256:p.Arg211His	Somatic	77	2		WXS	Illumina GAIIx	Phase_I	55	44	NM_198849	0	0	0	0	0	B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599615	0.87055	.	.	ENSG00000215475	ENST00000400405	T	0.27256	1.68	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.080109	0.47093	U	0.000255	T	0.47655	0.1457	M	0.73598	2.24	0.42780	D	0.993869	D	0.89917	1.0	D	0.66716	0.946	T	0.51108	-0.8747	10	0.87932	D	0	-7.7979	10.9973	0.47585	0.0:0.9142:0.0:0.0858	.	211	Q8IW03	SIAH3_HUMAN	H	211	ENSP00000383256:R211H	ENSP00000383256:R211H	R	-	2	0	SIAH3	45255697	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.982000	0.70532	2.369000	0.80426	0.561000	0.74099	CGC	.		0.622	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		T	46357696	C	T	46357696	3	4	62	1	0	0	0	0	1	0	0	0	14346	768	27	1	181	1	SIAH3	13	46357696	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7094802	46357696	68812182	987	13355											
MLNR	2862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	49796459	49796459	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgcaggggacactggAggagacacggtgggctacac	17	8	0	1	rs202143577		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:49796459A>T	ENST00000218721.1	+	2	1185	c.1185A>T	c.(1183-1185)ggA>ggT	p.G395G	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	395					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GGGACACTGGAGGAGACACGG	0.592																																					p.G395G		.											.	MLNR-90	0			c.A1185T						.						51	52	52					13																	49796459		2203	4300	6503	SO:0001819	synonymous_variant	2862	exon2			CACTGGAGGAGAC	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1185A>T	13.37:g.49796459A>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	44	38	NM_001507	0	0	0	0	0		Silent	SNP	ENST00000218721.1	37	CCDS9414.1																																																																																			.		0.592	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		T	49796459	A	T	49796459	2	4	62	1	0	0	0	0	0	0	0	1	9670	291	11	5		5	MLNR	13	49796459	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3438763	49796459	65373419	988	13356											
KPNA3	3839	hgsc.bcm.edu	37	chr13	50283733	50283733	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatcttctcttttgggtgtGataagagatttgggaagtgt	12	3	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:50283733G>T	ENST00000261667.3	-	12	1421	c.1007C>A	c.(1006-1008)tCa>tAa	p.S336*		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	336	NLS binding site (minor). {ECO:0000250}.				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)		TTTTGGGTGTGATAAGAGATT	0.423																																					p.S336X		.											.	KPNA3-226	0			c.C1007A						.						168	152	157					13																	50283733		2203	4300	6503	SO:0001587	stop_gained	3839	exon12			GGGTGTGATAAGA	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.1007C>A	13.37:g.50283733G>T	ENSP00000261667:p.Ser336*	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	65	4	NM_002267	0	0	23	23	0	O00191|O43195|Q5JVM9|Q96AA7	Nonsense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	41	8.748785	0.98939	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.25	5.25	0.73442	.	0.103486	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-10.4687	19.2224	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	X	336	.	ENSP00000261667:S336X	S	-	2	0	KPNA3	49181734	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.623000	0.88846	0.467000	0.42956	TCA	.		0.423	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		T	50283733	G	T	50283733	4	4	62	1	0	0	0	0	0	1	0	0	8458	1294	45	3	582	3	KPNA3	13	50283733	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	487274	50283733	64886145	989	13357											
MYCBP2	23077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	77780870	77780870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggacttaggatactAcatctggactgcatgtctgc	10	9	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:77780870A>G	ENST00000544440.2	-	24	3410	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C	MYCBP2_ENST00000407578.2_Silent_p.C1169C|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.C1131C					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)		TTAGGATACTACATCTGGACT	0.478																																					p.C1169C		.											.	MYCBP2-236	0			c.T3507C						.						159	119	133					13																	77780870		2203	4300	6503	SO:0001819	synonymous_variant	23077	exon24			GATACTACATCTG	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.3393T>C	13.37:g.77780870A>G		Somatic	87	0		WXS	Illumina GAIIx	Phase_I	94	72	NM_015057	0	0	0	3	3		Silent	SNP	ENST00000544440.2	37																																																																																				.		0.478	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77780870	A	G	77780870	2	3	62	1	0	0	0	0	0	0	0	1	10056	389	14	4		4	MYCBP2	13	77780870	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	27497137	77780870	37389008	990	13358											
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	99083455	99083455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcggccactgcaccgGctcatgcactacaagcaggt	10	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:99083455G>A	ENST00000319562.6	+	18	2329	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	FARP1_ENST00000376586.2_Silent_p.R688R|FARP1_ENST00000595437.1_Silent_p.R688R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	688	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACTGCACCGGCTCATGCACT	0.627																																					p.R688R		.											.	FARP1-290	0			c.G2064A						.						26	25	25					13																	99083455		2202	4300	6502	SO:0001819	synonymous_variant	10160	exon18			GCACCGGCTCATG	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2064G>A	13.37:g.99083455G>A		Somatic	187	0		WXS	Illumina GAIIx	Phase_I	147	105	NM_005766	0	0	5	163	158	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																			.		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		A	99083455	G	A	99083455	2	1	62	1	0	0	0	0	0	0	0	1	5698	1190	42	3		3	FARP1	13	99083455	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	21302585	99083455	16086423	991	13359											
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	99100570	99100570	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaagagtctcttgtgtattGatggccggacacactcgttt	10	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:99100570G>C	ENST00000319562.6	+	27	3402	c.3137G>C	c.(3136-3138)tGa>tCa	p.*1046S	FARP1_ENST00000376586.2_Nonstop_Mutation_p.*1077S|FARP1_ENST00000595437.1_Nonstop_Mutation_p.*1077S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTGTGTATTGATGGCCGGAC	0.512											OREG0022475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.X1046S		.											.	FARP1-290	0			c.G3137C						.						201	159	173					13																	99100570		2203	4300	6503	SO:0001578	stop_lost	10160	exon27			TGTATTGATGGCC	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3137G>C	13.37:g.99100570G>C	ENSP00000322926:p.*1046Serext*22	Somatic	208	0	1341	WXS	Illumina GAIIx	Phase_I	148	115	NM_005766	0	0	6	173	167	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247784	0.22880	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6968	0.91604	0.0:0.0:1.0:0.0	.	.	.	.	S	1077;1046	.	.	X	+	2	2	FARP1	97898571	1.000000	0.71417	0.449000	0.26957	0.044000	0.14063	8.941000	0.92964	2.411000	0.81874	0.555000	0.69702	TGA	.		0.512	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		C	99100570	G	C	99100570	4	2	62	1	0	0	0	0	0	0	0	0	5698	1285	45	3	3462	3	FARP1	13	99100570	Nonstop_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17115	99100570	16069308	992	13360											
TPP2	7174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	103288650	103288650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttactgttactgttggaaAtaaccgtggcatctacctcc	7	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:103288650A>G	ENST00000376065.4	+	13	1622	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	TPP2_ENST00000376052.3_Missense_Mutation_p.N529S	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	529					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTGTTGGAAATAACCGTGGC	0.408																																					p.N529S		.											.	TPP2-92	0			c.A1586G						.						105	93	97					13																	103288650		2203	4300	6503	SO:0001583	missense	7174	exon13			TTGGAAATAACCG	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1586A>G	13.37:g.103288650A>G	ENSP00000365233:p.Asn529Ser	Somatic	176	0		WXS	Illumina GAIIx	Phase_I	95	76	NM_003291	0	0	0	3	3	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134657	0.37630	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	6.08	1.84	0.25277	.	0.430271	0.27826	N	0.017683	T	0.30008	0.0751	N	0.12637	0.245	0.39350	D	0.965747	B	0.02656	0.0	B	0.01281	0.0	T	0.06588	-1.0818	9	0.40728	T	0.16	.	7.8236	0.29303	0.6114:0.2919:0.0967:0.0	.	529	P29144	TPP2_HUMAN	S	529	.	ENSP00000365220:N529S	N	+	2	0	TPP2	102086651	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.368000	0.20399	0.471000	0.27319	0.482000	0.46254	AAT	.		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103288650	A	G	103288650	3	3	62	1	0	0	0	0	1	0	0	0	16460	101	4	4	1636	4	TPP2	13	103288650	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	4188080	103288650	11881228	993	13361											
CDC16	8881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	115030673	115030673	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttctgttacaatgcttggtCattgcatcgaaatgtacatt	7	7	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:115030673C>T	ENST00000356221.3	+	17	1669	c.1561C>T	c.(1561-1563)Cat>Tat	p.H521Y	CDC16_ENST00000360383.3_Missense_Mutation_p.H521Y|CDC16_ENST00000375308.1_Missense_Mutation_p.H427Y|CDC16_ENST00000252457.5_Missense_Mutation_p.H520Y|CDC16_ENST00000252458.6_Missense_Mutation_p.H376Y|CDC16_ENST00000375310.1_Missense_Mutation_p.H427Y|CDC16_ENST00000375312.3_Missense_Mutation_p.H376Y|CDC16_ENST00000461716.1_3'UTR			Q13042	CDC16_HUMAN	cell division cycle 16	521					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATGCTTGGTCATTGCATCGA	0.343																																					p.H521Y		.											.	CDC16-226	0			c.C1561T						.						346	324	332					13																	115030673		2203	4300	6503	SO:0001583	missense	8881	exon17			CTTGGTCATTGCA	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1561C>T	13.37:g.115030673C>T	ENSP00000348554:p.His521Tyr	Somatic	151	1		WXS	Illumina GAIIx	Phase_I	98	78	NM_003903	0	0	0	22	22	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796014	0.50208	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.75938	-0.98;-0.98	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.57015	-0.7883	9	.	.	.	-18.5428	20.0193	0.97489	0.0:1.0:0.0:0.0	.	469;520;521	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	Y	521;376;521;427;520;427;376	ENSP00000364461:H376Y;ENSP00000252458:H376Y	.	H	+	1	0	CDC16	114048775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.739000	0.93911	0.650000	0.86243	CAT	.		0.343	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		T	115030673	C	T	115030673	3	4	62	1	0	0	0	0	1	0	0	0	3065	826	29	3	1627	3	CDC16	13	115030673	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	11742023	115030673	139205	994	13362											
POTEG	404785	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	19573146	19573146	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagggtggtgatagaaaggTatacttttatattcaaatgt	10	2	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:19573146T>C	ENST00000409832.3	+	8	1294		c.e8+2			NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GATAGAAAGGTATACTTTTAT	0.318																																					.		.											.	POTEG-1	0			c.1242+2T>C						.						153	161	158					14																	19573146		2199	4291	6490	SO:0001630	splice_region_variant	404785	exon8			GAAAGGTATACTT		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.1242+2T>C	14.37:g.19573146T>C		Somatic	1480	1		WXS	Illumina GAIIx	Phase_I	1895	270	NM_001005356	0	0	0	0	0	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	.	1.627	-0.520095	0.04171	.	.	ENSG00000222036	ENST00000409832	.	.	.	0.993	-0.262	0.12958	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.958	0.05883	0.0:0.3099:0.0:0.6901	.	.	.	.	.	-1	.	.	.	+	.	.	POTEG	18643146	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-0.028000	0.12350	-0.089000	0.12484	0.155000	0.16302	.	.		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Intron	C	19573146	T	C	19573146	5	2	62	1	0	0	0	0	0	0	1	0	12305	1652	57	4	1274	4	POTEG	14	19573146	Splice_Site	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10		19573146	87776394	995	13363											
OR4K2	390431	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaagtggcataattgCgttgtcctgttttattgttt	8	7	1	0	rs371172454		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A207V(1)|p.A207E(1)		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)		GGCATAATTGCGTTGTCCTGT	0.398																																					p.A207V		.											.	OR4K2-72	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C620T						.	C	VAL/ALA	0,4406		0,0,2203	312	312	312		620	4.1	0.9	14		312	1,8599		0,1,4299	no	missense	OR4K2	NM_001005501.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/315	20345046	1,13005	2203	4300	6503	SO:0001583	missense	390431	exon1			TAATTGCGTTGTC		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.620C>T	14.37:g.20345046C>T	ENSP00000298642:p.Ala207Val	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	163	47	NM_001005501	0	0	0	0	0	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197465	0.38806	0.0	1.16E-4	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.0	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.38374	0.1038	N	0.25060	0.705	0.28288	N	0.923682	D	0.64830	0.994	P	0.62491	0.903	T	0.15435	-1.0437	10	0.59425	D	0.04	.	7.7058	0.28648	0.0:0.8129:0.0:0.1871	.	207	Q8NGD2	OR4K2_HUMAN	V	207	ENSP00000298642:A207V	ENSP00000298642:A207V	A	+	2	0	OR4K2	19414886	0.000000	0.05858	0.866000	0.34008	0.186000	0.23388	-0.259000	0.08721	1.331000	0.45412	0.467000	0.42956	GCG	.		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			T	20345046	C	T	20345046	3	4	62	1	0	0	0	0	1	0	0	0	11111	768	27	1	622	1	OR4K2	14	20345046	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	771900	20345046	87004494	996	13364											
OR4K15	81127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20444355	20444355	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcttactaatagttgcagaTagtggctttctttctctgag	9	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20444355T>A	ENST00000305051.5	+	1	753	c.678T>A	c.(676-678)gaT>gaA	p.D226E		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTTGCAGATAGTGGCTTTC	0.433																																					p.D226E		.											.	OR4K15-69	0			c.T678A						.						164	158	160					14																	20444355		2203	4300	6503	SO:0001583	missense	81127	exon1			TGCAGATAGTGGC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.678T>A	14.37:g.20444355T>A	ENSP00000304077:p.Asp226Glu	Somatic	122	0		WXS	Illumina GAIIx	Phase_I	126	60	NM_001005486	0	0	0	0	0	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322913	0.23994	.	.	ENSG00000169488	ENST00000305051	T	0.00076	8.76	3.98	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.116246	0.38272	N	0.001751	T	0.00109	0.0003	N	0.13371	0.34	0.29058	N	0.884072	B	0.31153	0.31	B	0.37387	0.248	T	0.07888	-1.0749	10	0.72032	D	0.01	.	8.1919	0.31374	0.0:0.7855:0.0:0.2145	.	226	Q8NH41	OR4KF_HUMAN	E	226	ENSP00000304077:D226E	ENSP00000304077:D226E	D	+	3	2	OR4K15	19514195	0.000000	0.05858	1.000000	0.80357	0.271000	0.26615	-2.637000	0.00866	0.862000	0.35528	-0.292000	0.09595	GAT	.		0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			A	20444355	T	A	20444355	3	1	62	1	0	0	0	0	1	0	0	0	11109	1403	49	5	680	5	OR4K15	14	20444355	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	99309	20444355	86905185	997	13365											
OR11G2	390439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20666484	20666484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgtgatatatagtctTaggaacaaagatatgagaaa	8	5	1	3	rs200553632		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20666484T>C	ENST00000357366.3	+	1	990	c.990T>C	c.(988-990)ctT>ctC	p.L330L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tatatagtCTTAGGAACAAAG	0.373																																					p.L330L		.											.	OR11G2-70	0			c.T990C						.						94	100	98					14																	20666484		2203	4300	6503	SO:0001819	synonymous_variant	390439	exon1			TAGTCTTAGGAAC		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.990T>C	14.37:g.20666484T>C		Somatic	49	0		WXS	Illumina GAIIx	Phase_I	75	38	NM_001005503	0	0	0	0	0	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	CCDS32032.1																																																																																			T|0.999;G|0.000		0.373	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			C	20666484	T	C	20666484	2	2	62	1	0	0	0	0	0	0	0	1	10964	1741	61	4		4	OR11G2	14	20666484	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	222129	20666484	86683056	998	13366											
APEX1	328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	20924074	20924074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattactcattttatagaGccagaggccaagaagagtaa	8	6	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20924074G>A	ENST00000216714.3	+	3	328	c.60G>A	c.(58-60)gaG>gaA	p.E20E	OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000398030.4_Splice_Site_p.E20E|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000555414.1_Splice_Site_p.E20E|APEX1_ENST00000557365.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	20	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ATTTTATAGAGCCAGAGGCCA	0.493								Other BER factors																													p.E20E		.											.	APEX1-661	0			c.G60A						.						34	43	40					14																	20924074		2203	4298	6501	SO:0001630	splice_region_variant	328	exon3			TATAGAGCCAGAG	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.59-1G>A	14.37:g.20924074G>A		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	26	12	NM_080648	0	0	0	0	0	Q969L5|Q99775	Silent	SNP	ENST00000216714.3	37	CCDS9550.1																																																																																			.		0.493	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	Silent	A	20924074	G	A	20924074	5	1	62	1	0	0	0	0	0	0	1	0	769	985	34	3	66	3	APEX1	14	20924074	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	257590	20924074	86425466	999	13367											
OR6S1	341799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21109455	21109455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgagcaaggggtagcgCagaggatgacagatggccag	16	8	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:21109455C>T	ENST00000320704.3	-	1	395	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGGGGTAGCGCAGAGGATGAC	0.577																																					p.L132L		.											.	OR6S1-70	0			c.G396A						.						100	78	85					14																	21109455		2203	4300	6503	SO:0001819	synonymous_variant	341799	exon1			GTAGCGCAGAGGA	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.396G>A	14.37:g.21109455C>T		Somatic	199	0		WXS	Illumina GAIIx	Phase_I	258	106	NM_001001968	0	0	0	0	0	Q6IFJ9	Silent	SNP	ENST00000320704.3	37	CCDS32038.1																																																																																			.		0.577	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			T	21109455	C	T	21109455	2	4	62	1	0	0	0	0	0	0	0	1	11248	697	25	3		3	OR6S1	14	21109455	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	185381	21109455	86240085	1000	13368											
OR5AU1	390445	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	21623596	21623597	+	Frame_Shift_Ins	INS	-	-	A													cctgcactgtaggagcccacINSaatcagcgaggcacagacct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:21623596_21623597insA	ENST00000304418.3	-	1	625_626	c.588_589insT	c.(586-591)attgtgfs	p.V197fs		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, 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)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TAGGAGCCCACAATCAGCGAGG	0.505																																					p.V197fs		.											.	OR5AU1-68	0			c.589_590insT						.																																			SO:0001589	frameshift_variant	390445	exon1			AGCCCACAATCAG	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.589dupT	14.37:g.21623598_21623598dupA	ENSP00000302057:p.Val197fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	124	53	NM_001004731	0	0	0	0	0	B2RP78|Q6IEU2|Q96R10	Frame_Shift_Ins	INS	ENST00000304418.3	37	CCDS32042.1																																																																																			.		0.505	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			A	21623597	-	A	21623596	7	5	62	1	0	1	1	0	0	0	0	0	11186	478	17	0	502	0	OR5AU1	14	21623596	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	514141	21623596	85725944	1001	13369											
HAUS4	54930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	23415765	23415765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctgaactcctggaggGcccaccgcttgttctctgtt	10	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23415765G>A	ENST00000206474.7	-	10	1313	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	HAUS4_ENST00000490506.1_Missense_Mutation_p.A230V|HAUS4_ENST00000397409.4_Missense_Mutation_p.A228V|HAUS4_ENST00000541587.1_Missense_Mutation_p.A354V|HAUS4_ENST00000347758.2_Missense_Mutation_p.A228V|HAUS4_ENST00000342454.8_Missense_Mutation_p.A309V|HAUS4_ENST00000555367.1_Missense_Mutation_p.A309V|HAUS4_ENST00000555986.1_Missense_Mutation_p.A309V|RP11-298I3.5_ENST00000555074.1_Silent_p.G183G|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	354					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						CTCCTGGAGGGCCCACCGCTT	0.562																																					p.A354V		.											.	HAUS4-91	0			c.C1061T						.						77	68	71					14																	23415765		2203	4300	6503	SO:0001583	missense	54930	exon10			TGGAGGGCCCACC	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.1061C>T	14.37:g.23415765G>A	ENSP00000206474:p.Ala354Val	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	120	51	NM_001166269	0	0	11	13	2	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956487	0.53293	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555074	.	.	.	5.8	4.91	0.64330	.	0.210209	0.49916	N	0.000130	T	0.49898	0.1584	L	0.50333	1.59	0.34249	D	0.678552	B;B;B	0.12630	0.001;0.001;0.006	B;B;B	0.10450	0.003;0.004;0.005	T	0.58956	-0.7544	9	0.51188	T	0.08	-1.425	9.2927	0.37797	0.1638:0.0:0.8362:0.0	.	309;228;354	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	V	354;230;354;309;228;228;309;309;131	.	ENSP00000206474:A354V	A	-	2	0	RP11-298I3.5;HAUS4	22485605	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.171000	0.50824	1.465000	0.48006	0.585000	0.79938	GCC	.		0.562	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			A	23415765	G	A	23415765	3	1	62	1	0	0	0	0	1	0	0	0	6995	1203	42	3	34	3	HAUS4	14	23415765	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1792169	23415765	83933775	1002	13370											
PSMB5	5693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23504062	23504062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctggttcaccggtagcGgtctctccaacacgctggca	12	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23504062G>A	ENST00000361611.6	-	1	292	c.29C>T	c.(28-30)cCg>cTg	p.P10L	PSMB5_ENST00000493471.2_Missense_Mutation_p.P10L|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Missense_Mutation_p.P10L	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CACCGGTAGCGGTCTCTCCAA	0.592																																					p.P10L		.											.	PSMB5-91	0			c.C29T						.						41	39	40					14																	23504062		2203	4300	6503	SO:0001583	missense	5693	exon1			GGTAGCGGTCTCT	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.29C>T	14.37:g.23504062G>A	ENSP00000355325:p.Pro10Leu	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	82	45	NM_001144932	0	0	282	509	227	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174257	0.21704	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.49432	0.78;0.78;0.78	5.22	3.37	0.38596	.	0.479050	0.23688	N	0.045555	T	0.25644	0.0624	N	0.12182	0.205	0.80722	D	1	B;B	0.27765	0.188;0.118	B;B	0.21708	0.036;0.02	T	0.04870	-1.0921	10	0.40728	T	0.16	-7.9224	6.9777	0.24686	0.0792:0.0:0.4706:0.4503	.	10;10	P28074-2;P28074	.;PSB5_HUMAN	L	10	ENSP00000355325:P10L;ENSP00000452424:P10L;ENSP00000451286:P10L	ENSP00000334973:P10L	P	-	2	0	PSMB5	22573902	1.000000	0.71417	0.921000	0.36526	0.679000	0.39708	1.945000	0.40273	0.576000	0.29452	-1.476000	0.00998	CCG	.		0.592	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		A	23504062	G	A	23504062	3	1	62	1	0	0	0	0	1	0	0	0	12722	1116	39	1	863	1	PSMB5	14	23504062	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	88297	23504062	83845478	1003	13371											
BCL2L2	599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23777326	23777326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacaaggagatggaacCactggtgggacaagtgcagg	15	7	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23777326C>T	ENST00000250405.5	+	3	579	c.350C>T	c.(349-351)cCa>cTa	p.P117L	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P117L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P117L	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	117					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GAGATGGAACCACTGGTGGGA	0.562																																					p.P117L		.											.	.	0			c.C350T						.						54	59	57					14																	23777326		2203	4300	6503	SO:0001583	missense	100529063	exon3			TGGAACCACTGGT	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.350C>T	14.37:g.23777326C>T	ENSP00000250405:p.Pro117Leu	Somatic	91	0		WXS	Illumina GAIIx	Phase_I	96	37	NM_001199864	0	0	27	42	15	A8K0F4|Q2M3U0|Q5U0H4	Missense_Mutation	SNP	ENST00000250405.5	37	CCDS9591.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227792	0.58668	.	.	ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000258643;ENSG00000258643;ENSG00000258643	ENST00000250405;ENST00000557236;ENST00000557579;ENST00000553781;ENST00000556100;ENST00000557008	T;T;T;T;T;T	0.47528	0.84;2.82;2.82;2.82;0.84;2.82	5.74	4.85	0.62838	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.101476	0.41823	D	0.000810	T	0.43077	0.1231	L	0.48642	1.525	0.39479	D	0.967855	B;B	0.26602	0.154;0.035	B;B	0.28139	0.086;0.081	T	0.44544	-0.9321	10	0.62326	D	0.03	-1.1476	12.2948	0.54840	0.0:0.9185:0.0:0.0815	.	117;117	G3V5R7;Q92843	.;B2CL2_HUMAN	L	117	ENSP00000250405:P117L;ENSP00000451701:P117L;ENSP00000452265:P117L;ENSP00000451320:P117L;ENSP00000450916:P117L;ENSP00000452479:P117L	ENSP00000250405:P117L	P	+	2	0	RP11-124D2.2;BCL2L2	22847166	0.030000	0.19436	0.980000	0.43619	0.988000	0.76386	1.482000	0.35486	1.426000	0.47256	0.655000	0.94253	CCA	.		0.562	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		T	23777326	C	T	23777326	3	4	62	1	0	0	0	0	1	0	0	0	1375	594	21	3	352	3	BCL2L2	14	23777326	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	273264	23777326	83572214	1004	13372											
SLC22A17	51310	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23821014	23821014	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggcaaagcccaagatgaaGaggatctgctccaggatcac	12	10	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23821014G>A	ENST00000206544.8	-	2	654	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SLC22A17_ENST00000397267.1_Silent_p.L106L|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000354772.3_Silent_p.L106L|SLC22A17_ENST00000474057.1_Intron	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	106					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCAAGATGAAGAGGATCTGCT	0.647																																					p.L106L		.											.	SLC22A17-226	0			c.C318T						.						78	64	69					14																	23821014		2203	4300	6503	SO:0001819	synonymous_variant	51310	exon3			GATGAAGAGGATC	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.318C>T	14.37:g.23821014G>A		Somatic	198	2		WXS	Illumina GAIIx	Phase_I	240	93	NM_016609	0	0	5	5	0	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	CCDS9593.1																																																																																			.		0.647	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		A	23821014	G	A	23821014	2	1	62	1	0	0	0	0	0	0	0	1	14493	929	33	3		3	SLC22A17	14	23821014	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	43688	23821014	83528526	1005	13373											
IL25	64806	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23844931	23844931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaggctcccacatggacCcccggggcaactcggagctg	13	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23844931C>T	ENST00000329715.2	+	2	634	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.P110S|CMTM5_ENST00000342473.4_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	126					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CCACATGGACCCCCGGGGCAA	0.647																																					p.P126S		.											.	IL25-91	0			c.C376T						.						83	80	81					14																	23844931		2203	4300	6503	SO:0001583	missense	64806	exon2			ATGGACCCCCGGG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.376C>T	14.37:g.23844931C>T	ENSP00000328111:p.Pro126Ser	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	197	84	NM_022789	0	0	0	0	0	Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352218	0.41700	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.50548	0.74;0.74	4.5	3.59	0.41128	.	0.240936	0.30085	N	0.010451	T	0.46483	0.1395	N	0.24115	0.695	0.29706	N	0.839779	D;D	0.71674	0.959;0.998	P;D	0.66979	0.492;0.948	T	0.29701	-1.0003	10	0.22109	T	0.4	-30.8186	8.5478	0.33433	0.0:0.891:0.0:0.109	.	126;110	Q9H293;Q9H293-2	IL25_HUMAN;.	S	110;126	ENSP00000380417:P110S;ENSP00000328111:P126S	ENSP00000328111:P126S	P	+	1	0	IL25	22914771	0.350000	0.24878	1.000000	0.80357	0.933000	0.57130	0.511000	0.22739	2.333000	0.79357	0.561000	0.74099	CCC	.		0.647	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			T	23844931	C	T	23844931	3	4	62	1	0	0	0	0	1	0	0	0	7705	623	22	3	395	3	IL25	14	23844931	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	23917	23844931	83504609	1006	13374											
MYH6	4624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23865566	23865566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcatgcgcgtgatgaTgcggctcagcctctcatccc	12	15	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23865566T>C	ENST00000356287.3	-	19	2385	c.2356A>G	c.(2356-2358)Atc>Gtc	p.I786V	MYH6_ENST00000405093.3_Missense_Mutation_p.I786V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	786	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCGTGATGATGCGGCTCAGC	0.607																																					p.I786V		.											.	MYH6-94	0			c.A2356G						.						71	61	65					14																	23865566		2203	4300	6503	SO:0001583	missense	4624	exon20			TGATGATGCGGCT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2356A>G	14.37:g.23865566T>C	ENSP00000348634:p.Ile786Val	Somatic	67	1		WXS	Illumina GAIIx	Phase_I	73	34	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	8.517	0.867949	0.17250	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71579	-0.58;-0.58	4.78	4.78	0.61160	.	.	.	.	.	T	0.68155	0.2970	M	0.71206	2.165	0.46954	D	0.999263	B	0.25563	0.129	B	0.28011	0.085	T	0.64529	-0.6386	9	0.24483	T	0.36	.	11.8548	0.52431	0.0:0.0:0.1457:0.8543	.	786	P13533	MYH6_HUMAN	V	786	ENSP00000386041:I786V;ENSP00000348634:I786V	ENSP00000348634:I786V	I	-	1	0	MYH6	22935406	0.888000	0.30383	1.000000	0.80357	0.243000	0.25628	1.293000	0.33353	1.929000	0.55896	0.528000	0.53228	ATC	.		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			C	23865566	T	C	23865566	3	2	62	1	0	0	0	0	1	0	0	0	10076	1464	51	4	3543	4	MYH6	14	23865566	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	20635	23865566	83483974	1007	13375											
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23872558	23872558	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcaggcaggttcaccCagcaactccggcttcttgtt	13	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23872558C>G	ENST00000356287.3	-	9	926	c.897G>C	c.(895-897)ctG>ctC	p.L299L	MYH6_ENST00000405093.3_Splice_Site_p.L299L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	299	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGGTTCACCCAGCAACTCCG	0.607																																					p.L299L		.											.	MYH6-94	0			c.G897C						.						144	152	149					14																	23872558		2203	4300	6503	SO:0001630	splice_region_variant	4624	exon10			TTCACCCAGCAAC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.898+1G>C	14.37:g.23872558C>G		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	101	44	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			.		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		Silent	G	23872558	C	G	23872558	5	3	62	1	0	0	0	0	0	0	1	0	10076	608	21	3	5042	3	MYH6	14	23872558	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6992	23872558	83476982	1008	13376											
MYH7	4625	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23894924	23894924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgtggccaaacttgtActggttgtgatcaatgtcca	11	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23894924A>T	ENST00000355349.3	-	20	2428	c.2266T>A	c.(2266-2268)Tac>Aac	p.Y756N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	756	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)			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)		CCAAACTTGTACTGGTTGTGA	0.478																																					p.Y756N		.											.	MYH7-94	0			c.T2266A						.						126	111	116					14																	23894924		2203	4300	6503	SO:0001583	missense	4625	exon20			ACTTGTACTGGTT	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.2266T>A	14.37:g.23894924A>T	ENSP00000347507:p.Tyr756Asn	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	159	61	NM_000257	0	0	0	0	0	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562782	0.86335	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95980	-3.87	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.98773	0.9587	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	9	0.87932	D	0	.	14.6525	0.68808	1.0:0.0:0.0:0.0	.	756	P12883	MYH7_HUMAN	N	756	ENSP00000347507:Y756N	ENSP00000347507:Y756N	Y	-	1	0	MYH7	22964764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.765000	0.91724	2.048000	0.60808	0.533000	0.62120	TAC	.		0.478	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23894924	A	T	23894924	3	4	62	1	0	0	0	0	1	0	0	0	10077	391	14	5	3625	5	MYH7	14	23894924	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	22366	23894924	83454616	1009	13377											
RNF31	55072	hgsc.bcm.edu;bcgsc.ca	37	chr14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-													ttctctctgccttcccagcaGggggatgctttgctggcctc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cagfs	p.Q400fs	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517																																					p.Q400fs		.											.	RNF31-90	0			c.1200delG						.						165	169	167					14																	24619809		1947	4146	6093	SO:0001589	frameshift_variant	55072	exon8			CCAGCAGGGGGAT	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1200delG	14.37:g.24619809delG	ENSP00000315112:p.Gln400fs	Somatic	115	1		WXS	Illumina GAIIx	Phase_I	146	65	NM_017999	0	0	0	0	0	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	CCDS41931.1																																																																																			.		0.517	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		-	24619809	G	-	24619809	7	5	62	1	0	1	0	1	0	0	0	0	13532	991	35	0	1230	0	RNF31	14	24619809	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	724885	24619809	82729731	1010	13378											
TM9SF1	10548	bcgsc.ca	37	chr14	24662159	24662159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccaccatcgtcaccaCggcgcctgtcactccgacgc	8	18	2	1	rs201569838		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24662159C>T	ENST00000261789.4	-	3	1020	c.662G>A	c.(661-663)cGt>cAt	p.R221H	TM9SF1_ENST00000556387.1_Missense_Mutation_p.R430H|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R221H|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R430H|TM9SF1_ENST00000396854.4_Missense_Mutation_p.R221H|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R134H	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	221					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATCGTCACCACGGCGCCTGTC	0.522																																					p.R221H		.											.	TM9SF1-91	0			c.G662A						.						104	90	95					14																	24662159		2203	4300	6503	SO:0001583	missense	10548	exon3			TCACCACGGCGCC	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.662G>A	14.37:g.24662159C>T	ENSP00000261789:p.Arg221His	Somatic	206	3		WXS	Illumina GAIIx	Phase_I	288	152	NM_001014842	0	1	72	159	86	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035770	0.35893	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000530611	T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.1	2.12	0.27331	.	0.193921	0.44097	N	0.000497	T	0.54319	0.1851	L	0.29908	0.895	0.53005	D	0.999969	B;B;B	0.29481	0.245;0.004;0.001	B;B;B	0.27715	0.082;0.005;0.004	T	0.52223	-0.8604	10	0.51188	T	0.08	-7.15	8.3961	0.32557	0.0:0.7194:0.0:0.2806	.	221;221;221	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	H	221;221;430;134;221;221;134;221;221;430	ENSP00000261789:R221H;ENSP00000432997:R221H;ENSP00000451949:R430H;ENSP00000434387:R134H;ENSP00000380063:R221H;ENSP00000431447:R221H;ENSP00000437127:R134H;ENSP00000435857:R221H;ENSP00000432435:R221H;ENSP00000433967:R430H	ENSP00000433967:R430H	R	-	2	0	TM9SF1;RP11-468E2.1	23731999	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.225000	0.51246	0.753000	0.32945	-0.126000	0.14955	CGT	C|0.999;T|0.001		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		T	24662159	C	T	24662159	3	4	62	1	0	0	0	0	1	0	0	0	16024	536	19	1	1217	1	TM9SF1	14	24662159	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	42350	24662159	82687381	1011	13379											
TGM1	7051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24718579	24718579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgactgtcacctccagcGtctgagaagaagcccccatc	9	14	2	3	rs201811993	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24718579G>A	ENST00000206765.6	-	15	2517	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	TGM1_ENST00000544573.1_Silent_p.D356D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	798					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)	CACCTCCAGCGTCTGAGAAGA	0.602													G|||	3	0.000599042	0	0.0014	5008	,	,		18921	0		0.001	False		,,,				2504	0.001				p.D798D		.											.	TGM1-91	0			c.C2394T						.						71	68	69					14																	24718579		2203	4300	6503	SO:0001819	synonymous_variant	7051	exon15			TCCAGCGTCTGAG	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.2394C>T	14.37:g.24718579G>A		Somatic	63	0		WXS	Illumina GAIIx	Phase_I	104	54	NM_000359	0	0	2	4	2	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																			G|0.999;A|0.000		0.602	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		A	24718579	G	A	24718579	2	1	62	1	0	0	0	0	0	0	0	1	15876	1136	40	1		1	TGM1	14	24718579	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	56420	24718579	82630961	1012	13380											
ADCY4	196883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24801000	24801000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcccggctgacctggtgCttcttctcggtgtccagccg	13	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24801000C>T	ENST00000310677.4	-	5	776	c.663G>A	c.(661-663)aaG>aaA	p.K221K	ADCY4_ENST00000554068.2_Silent_p.K221K|ADCY4_ENST00000418030.2_Silent_p.K221K|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	221					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)		TGACCTGGTGCTTCTTCTCGG	0.637																																					p.K221K		.											.	ADCY4-93	0			c.G663A						.						23	25	25					14																	24801000		2203	4300	6503	SO:0001819	synonymous_variant	196883	exon5			CTGGTGCTTCTTC	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.663G>A	14.37:g.24801000C>T		Somatic	64	0		WXS	Illumina GAIIx	Phase_I	118	44	NM_001198592	0	0	0	0	0	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																			.		0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24801000	C	T	24801000	2	4	62	1	0	0	0	0	0	0	0	1	296	796	28	3		3	ADCY4	14	24801000	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	82421	24801000	82548540	1013	13381											
PPP2R3C	55012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	35585883	35585883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttctacctcctttccattcgGagtaatattttgtaaataaa	4	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:35585883G>C	ENST00000261475.5	-	2	472	c.119C>G	c.(118-120)tCc>tGc	p.S40C	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.S40C	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	40					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TTTCCATTCGGAGTAATATTT	0.313																																					p.S40C		.											.	PPP2R3C-227	0			c.C119G						.						78	80	79					14																	35585883		2202	4299	6501	SO:0001583	missense	55012	exon2			CATTCGGAGTAAT	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.119C>G	14.37:g.35585883G>C	ENSP00000261475:p.Ser40Cys	Somatic	26	0		WXS	Illumina GAIIx	Phase_I	41	9	NM_017917	0	0	9	16	7	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416505	0.42918	.	.	ENSG00000092020	ENST00000261475;ENST00000554361;ENST00000555644;ENST00000557278	T	0.45668	0.89	5.29	5.29	0.74685	.	0.168304	0.51477	D	0.000093	T	0.34308	0.0893	N	0.12182	0.205	0.33712	D	0.615896	P;B;B	0.45827	0.867;0.007;0.0	P;B;B	0.50378	0.639;0.004;0.001	T	0.49143	-0.8970	10	0.54805	T	0.06	-5.8159	10.5222	0.44924	0.1197:0.0:0.8803:0.0	.	40;40;40	G3V2K1;Q86US5;Q969Q6	.;.;P2R3C_HUMAN	C	40	ENSP00000450716:S40C	ENSP00000261475:S40C	S	-	2	0	PPP2R3C	34655634	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.824000	0.62701	2.620000	0.88729	0.561000	0.74099	TCC	.		0.313	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		C	35585883	G	C	35585883	3	2	62	1	0	0	0	0	1	0	0	0	12432	1174	41	3	1290	3	PPP2R3C	14	35585883	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	10784883	35585883	71763657	1014	13382											
PAX9	5083	ucsc.edu;bcgsc.ca	37	chr14	37135761	37135761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccccgcacgcggtgaaCgggttggagaagggagccct	17	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:37135761C>T	ENST00000361487.6	+	3	951	c.726C>T	c.(724-726)aaC>aaT	p.N242N	PAX9_ENST00000554201.1_Silent_p.N55N|PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Silent_p.N242N			P55771	PAX9_HUMAN	paired box 9	242					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACGCGGTGAACGGGTTGGAGA	0.687																																					p.N242N		.											.	PAX9-228	0			c.C726T						.						23	14	17					14																	37135761		2178	4278	6456	SO:0001819	synonymous_variant	5083	exon4			GGTGAACGGGTTG	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.726C>T	14.37:g.37135761C>T		Somatic	197	2		WXS	Illumina GAIIx	Phase_I	311	126	NM_006194	0	0	0	0	0	Q99582|Q9UQR4	Silent	SNP	ENST00000361487.6	37	CCDS9662.1																																																																																			.		0.687	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			T	37135761	C	T	37135761	2	4	62	1	0	0	0	0	0	0	0	1	11525	535	19	1		1	PAX9	14	37135761	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1549878	37135761	70213779	1015	13383											
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45644600	45644600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagattctgtagataatgaCagaaattccactgttgaaaa	7	5	1	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:45644600C>T	ENST00000267430.5	+	14	2728	c.2643C>T	c.(2641-2643)gaC>gaT	p.D881D	FANCM_ENST00000542564.2_Silent_p.D855D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	881					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGATAATGACAGAAATTCCA	0.269								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.D881D		.											.	FANCM-569	0			c.C2643T						.						48	56	53					14																	45644600		2198	4288	6486	SO:0001819	synonymous_variant	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TAATGACAGAAAT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2643C>T	14.37:g.45644600C>T		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	37	13	NM_020937	0	0	2	2	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1																																																																																			.		0.269	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45644600	C	T	45644600	2	4	62	1	0	0	0	0	0	0	0	1	5693	477	17	3		3	FANCM	14	45644600	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	8508839	45644600	61704940	1016	13384											
FANCM	57697	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	45654431	45654431	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacttagcatgtagctagGaagtttttagatgatgaagc	10	5	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:45654431G>A	ENST00000267430.5	+	18	4612	c.4527G>A	c.(4525-4527)agG>agA	p.R1509R	FANCM_ENST00000542564.2_Silent_p.R1483R|FANCM_ENST00000555013.1_3'UTR	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1509					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATGTAGCTAGGAAGTTTTTAG	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R1509R		.											.	FANCM-569	0			c.G4527A						.						56	60	59					14																	45654431		2203	4294	6497	SO:0001819	synonymous_variant	57697	exon18	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGCTAGGAAGTTT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4527G>A	14.37:g.45654431G>A		Somatic	229	2		WXS	Illumina GAIIx	Phase_I	221	92	NM_020937	0	0	0	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911431	0.17833	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.77	2.98	0.34508	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51156	-0.8741	4	.	.	.	.	9.0299	0.36252	0.302:0.0:0.698:0.0	.	.	.	.	K	442	.	.	E	+	1	0	FANCM	44724181	0.991000	0.36638	0.996000	0.52242	0.982000	0.71751	0.226000	0.17776	0.369000	0.24510	0.650000	0.86243	GAA	.		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45654431	G	A	45654431	2	1	62	1	0	0	0	0	0	0	0	1	5693	1165	41	3		3	FANCM	14	45654431	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9831	45654431	61695109	1017	13385											
FRMD6	122786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52182163	52182163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacagccaccgcctcTatatgaatctgcagcctgtc	8	14	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:52182163T>C	ENST00000344768.5	+	10	1166	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	FRMD6_ENST00000356218.4_Missense_Mutation_p.Y316H|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y247H|FRMD6_ENST00000395718.2_Missense_Mutation_p.Y316H|FRMD6_ENST00000553556.1_5'Flank			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCACCGCCTCTATATGAATCT	0.562																																					p.Y324H		.											.	FRMD6-524	0			c.T970C						.						59	63	61					14																	52182163		2203	4300	6503	SO:0001583	missense	122786	exon10			CGCCTCTATATGA	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.970T>C	14.37:g.52182163T>C	ENSP00000343899:p.Tyr324His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	88	41	NM_001267046	0	0	0	1	1	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556421	0.45487	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	6.02	6.02	0.97574	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.24258	0.082;0.1;0.02	B;B;B	0.28305	0.036;0.088;0.053	T	0.69964	-0.5002	10	0.33141	T	0.24	.	15.1157	0.72401	0.0:0.0:0.0:1.0	.	247;324;316	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	H	316;316;324;247;54	ENSP00000348550:Y316H;ENSP00000379068:Y316H;ENSP00000343899:Y324H;ENSP00000451977:Y247H;ENSP00000451157:Y54H	ENSP00000343899:Y324H	Y	+	1	0	FRMD6	51251913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	TAT	.		0.562	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		C	52182163	T	C	52182163	3	2	62	1	0	0	0	0	1	0	0	0	6078	1522	53	4	980	4	FRMD6	14	52182163	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	6527732	52182163	55167377	1018	13386											
NID2	22795	broad.mit.edu	37	chr14	52478281	52478281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgctgacctgaattcaCgatcgtctcaggctctgctc	9	13	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:52478281C>T	ENST00000216286.5	-	17	3540	c.3541G>A	c.(3541-3543)Gtg>Atg	p.V1181M	NID2_ENST00000541773.1_Missense_Mutation_p.V1080M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1181					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)					CCTGAATTCACGATCGTCTCA	0.507																																					p.V1181M		.											.	NID2-158	0			c.G3541A						.						130	107	115					14																	52478281		2203	4300	6503	SO:0001583	missense	22795	exon17			AATTCACGATCGT	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.3541G>A	14.37:g.52478281C>T	ENSP00000216286:p.Val1181Met	Somatic	76	0		WXS	Illumina GAIIx	Phase_I	139	5	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580361|2.580361	0.46006|0.46006	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|T;T	.|0.32272	.|1.46;1.46	5.79|5.79	0.792|0.792	0.18625|0.18625	.|Six-bladed beta-propeller, TolB-like (1);	.|0.403964	.|0.30126	.|N	.|0.010349	T|T	0.35941|0.35941	0.0949|0.0949	M|M	0.65320|0.65320	2|2	0.24283|0.24283	N|N	0.995197|0.995197	.|D;P;D	.|0.58620	.|0.983;0.951;0.975	.|P;P;P	.|0.53988	.|0.739;0.681;0.714	T|T	0.16837|0.16837	-1.0389|-1.0389	5|10	.|0.49607	.|T	.|0.09	.|.	4.6383|4.6383	0.12536|0.12536	0.1301:0.2309:0.0:0.639|0.1301:0.2309:0.0:0.639	.|.	.|775;1080;1181	.|E7EPP3;Q14112-2;Q14112	.|.;.;NID2_HUMAN	H|M	449|1181;775;1080	.|ENSP00000216286:V1181M;ENSP00000443730:V1080M	.|ENSP00000216286:V1181M	R|V	-|-	2|1	0|0	NID2|NID2	51548031|51548031	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.235000|0.235000	0.25334|0.25334	2.115000|2.115000	0.41921|0.41921	-0.091000|-0.091000	0.12440|0.12440	0.563000|0.563000	0.77884|0.77884	CGT|GTG	.		0.507	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52478281	C	T	52478281	3	4	62	1	0	0	0	0	1	0	0	0	10454	536	19	1	610	1	NID2	14	52478281	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	296118	52478281	54871259	1019	13387											
SAMD4A	23034	hgsc.bcm.edu	37	chr14	55034812	55034812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagctgcacgtcctcgaaCgcgaggccaacagccccggt	12	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:55034812C>T	ENST00000554335.1	+	2	841	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R60C|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R59C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R60C			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	60					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						CGTCCTCGAACGCGAGGCCAA	0.736																																					p.R60C		.											.	SAMD4A-90	0			c.C178T						.						11	12	12					14																	55034812		2185	4289	6474	SO:0001583	missense	23034	exon1			CTCGAACGCGAGG	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.178C>T	14.37:g.55034812C>T	ENSP00000452535:p.Arg60Cys	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	20	9	NM_015589	0	0	3	6	3	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735061	0.48939	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	4.5	0.54988	.	0.069747	0.56097	D	0.000038	T	0.60637	0.2284	L	0.39898	1.24	0.33253	D	0.558785	B;P	0.44260	0.004;0.83	B;B	0.33521	0.0;0.165	T	0.72087	-0.4396	10	0.52906	T	0.07	-6.5991	10.3548	0.43958	0.074:0.1419:0.7841:0.0	.	60;60	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	C	60;60;60;59;59	ENSP00000452535:R60C;ENSP00000375919:R60C;ENSP00000350261:R59C	ENSP00000306381:R60C	R	+	1	0	SAMD4A	54104562	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	4.558000	0.60789	1.273000	0.44346	-0.344000	0.07964	CGC	.		0.736	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55034812	C	T	55034812	3	4	62	1	0	0	0	0	1	0	0	0	13866	536	19	1	177	1	SAMD4A	14	55034812	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2556531	55034812	52314728	1020	13388											
KTN1	3895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	56103915	56103915	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatgtaatgttttattacaGatttacagagtaaatttgtg	7	2	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:56103915G>A	ENST00000395314.3	+	11	1617		c.e11-1		KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000416613.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000413890.2_Splice_Site	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTATTACAGATTTACAGAG	0.358			T	RET	papillary thryoid																																.		.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1-1147	0			c.1550-1G>A						.						57	60	59					14																	56103915		2202	4299	6501	SO:0001630	splice_region_variant	3895	exon11			ATTACAGATTTAC		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.1550-1G>A	14.37:g.56103915G>A		Somatic	169	0		WXS	Illumina GAIIx	Phase_I	202	79	NM_001079521	0	0	0	0	0	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065564	0.55539	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55173668	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.466000	0.80914	2.585000	0.87301	0.609000	0.83330	.	.		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Intron	A	56103915	G	A	56103915	5	1	62	1	0	0	0	0	0	0	1	0	8613	956	33	3	1587	3	KTN1	14	56103915	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1069103	56103915	51245625	1021	13389											
SGPP1	81537	broad.mit.edu;mdanderson.org	37	chr14	64194307	64194307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgctcacgcgggccagcTggccctcctcgcccgtcagc	12	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:64194307T>C	ENST00000247225.6	-	1	450	c.356A>G	c.(355-357)cAg>cGg	p.Q119R		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	119					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GCGGGCCAGCTGGCCCTCCTC	0.706																																					p.Q119R		.											.	SGPP1-90	0			c.A356G						.						30	34	33					14																	64194307		2189	4297	6486	SO:0001583	missense	81537	exon1			GCCAGCTGGCCCT	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.356A>G	14.37:g.64194307T>C	ENSP00000247225:p.Gln119Arg	Somatic	17	0		WXS	Illumina GAIIx	Phase_I	23	11	NM_030791	0	0	6	7	1	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291717	0.59976	.	.	ENSG00000126821	ENST00000247225	T	0.21734	1.99	4.47	2.12	0.27331	.	0.484707	0.21636	N	0.071419	T	0.16896	0.0406	L	0.57536	1.79	0.33375	D	0.574146	B	0.27559	0.181	B	0.26864	0.074	T	0.17745	-1.0359	10	0.15499	T	0.54	-4.6024	6.5436	0.22394	0.0:0.2104:0.0:0.7896	.	119	Q9BX95	SGPP1_HUMAN	R	119	ENSP00000247225:Q119R	ENSP00000247225:Q119R	Q	-	2	0	SGPP1	63264060	1.000000	0.71417	0.477000	0.27303	0.815000	0.46073	6.088000	0.71371	0.575000	0.29434	0.254000	0.18369	CAG	.		0.706	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		C	64194307	T	C	64194307	3	2	62	1	0	0	0	0	1	0	0	0	14264	1580	55	4	981	4	SGPP1	14	64194307	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	8090392	64194307	43155233	1022	13390											
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64644145	64644145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttttaaaggcacaaagtGaagatcctcttccagagctt	8	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:64644145G>A	ENST00000344113.4	+	96	17712	c.17500G>A	c.(17500-17502)Gaa>Aaa	p.E5834K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E5834K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E5699K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2468K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2219K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2219K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5834					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)		GGCACAAAGTGAAGATCCTCT	0.393																																					p.E5834K		.											.	SYNE2-164	0			c.G17500A						.						87	89	88					14																	64644145		2203	4300	6503	SO:0001583	missense	23224	exon96			CAAAGTGAAGATC	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.17500G>A	14.37:g.64644145G>A	ENSP00000341781:p.Glu5834Lys	Somatic	180	0		WXS	Illumina GAIIx	Phase_I	209	91	NM_182914	0	0	12	18	6	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547981	0.13312	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.76709	-0.94;-0.94;-0.94;-1.04;-0.94;-0.94	6.07	1.09	0.20402	.	0.534185	0.18052	N	0.153254	T	0.43255	0.1239	N	0.01188	-0.97	0.42936	D	0.994338	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.09250	-1.0683	10	0.12430	T	0.62	.	6.1729	0.20427	0.6757:0.1244:0.1999:0.0	.	2219;222;5699;5834;5834	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	5834;2219;5834;5699;5705;2468;2219	ENSP00000350719:E5834K;ENSP00000349969:E2219K;ENSP00000341781:E5834K;ENSP00000452570:E5699K;ENSP00000450831:E2468K;ENSP00000378249:E2219K	ENSP00000261678:E5705K	E	+	1	0	SYNE2	63713898	0.454000	0.25728	0.023000	0.16930	0.977000	0.68977	0.562000	0.23531	-0.047000	0.13423	-0.312000	0.09012	GAA	.		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64644145	G	A	64644145	3	1	62	1	0	0	0	0	1	0	0	0	15493	1291	45	3	17878	3	SYNE2	14	64644145	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	449838	64644145	42705395	1023	13391											
HSPA2	3306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	65009141	65009141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggatggtgcaggaggCggagcggtacaaatcggaag	18	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65009141C>T	ENST00000394709.1	+	2	1650	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	HSPA2_ENST00000247207.6_Missense_Mutation_p.A525V|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	525					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)			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)		GTGCAGGAGGCGGAGCGGTAC	0.552																																					p.A525V	Pancreas(136;1211 1835 24894 31984 38227)	.											.	HSPA2-226	0			c.C1574T						.						75	78	77					14																	65009141		2203	4300	6503	SO:0001583	missense	3306	exon1			AGGAGGCGGAGCG	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.1574C>T	14.37:g.65009141C>T	ENSP00000378199:p.Ala525Val	Somatic	125	0		WXS	Illumina GAIIx	Phase_I	151	61	NM_021979	0	0	22	40	18	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537748	0.85917	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.04862	3.54;3.54	5.31	5.31	0.75309	.	0.000000	0.53938	U	0.000049	T	0.44393	0.1291	H	0.98721	4.31	0.53688	D	0.999973	D	0.89917	1.0	D	0.68192	0.956	T	0.69213	-0.5204	10	0.87932	D	0	3.011	19.05	0.93039	0.0:1.0:0.0:0.0	.	525	P54652	HSP72_HUMAN	V	525;525;299	ENSP00000378199:A525V;ENSP00000247207:A525V	ENSP00000247207:A525V	A	+	2	0	HSPA2	64078894	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.818000	0.86416	2.502000	0.84385	0.558000	0.71614	GCG	.		0.552	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			T	65009141	C	T	65009141	3	4	62	1	0	0	0	0	1	0	0	0	7438	768	27	1	1576	1	HSPA2	14	65009141	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	364996	65009141	42340399	1024	13392											
SPTB	6710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	65249147	65249147	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtcggagctcctggcagccGagaggtgctgggtcttctcc	16	12	2	1	rs200559187	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65249147G>T	ENST00000389721.5	-	19	4159	c.4127C>A	c.(4126-4128)tCg>tAg	p.S1376*	SPTB_ENST00000556626.1_Nonsense_Mutation_p.S1376*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.S1376*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.S1376*|SPTB_ENST00000389722.3_Nonsense_Mutation_p.S1376*	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1376					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGCAGCCGAGAGGTGCTG	0.632																																					p.S1376X		.											.	SPTB-100	0			c.C4127A						.						96	94	95					14																	65249147		2203	4300	6503	SO:0001587	stop_gained	6710	exon19			GCAGCCGAGAGGT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4127C>A	14.37:g.65249147G>T	ENSP00000374371:p.Ser1376*	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	148	77	NM_000347	0	0	0	0	0	Q15510|Q15519	Nonsense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	43	10.040557	0.99323	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.36	3.15	0.36227	.	0.125530	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.9468	0.13993	0.394:0.0:0.606:0.0	.	.	.	.	X	1380;1376;160;41;1376;1376;1376;1376	.	ENSP00000334218:S160X	S	-	2	0	SPTB	64318900	1.000000	0.71417	0.490000	0.27465	0.494000	0.33585	5.474000	0.66781	1.414000	0.47017	0.462000	0.41574	TCG	G|0.999;A|0.000		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65249147	G	T	65249147	4	4	62	1	0	0	0	0	0	1	0	0	15165	1059	37	2	2996	2	SPTB	14	65249147	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	240006	65249147	42100393	1025	13393											
SPTB	6710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	65263322	65263322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaggtctctctcattgCggccttccggtcaaagcgcc	11	15	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65263322C>T	ENST00000389721.5	-	10	1326	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SPTB_ENST00000556626.1_Missense_Mutation_p.A432T|SPTB_ENST00000542895.1_Missense_Mutation_p.A432T|SPTB_ENST00000389720.3_Missense_Mutation_p.A432T|SPTB_ENST00000389722.3_Missense_Mutation_p.A432T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	432					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCTCATTGCGGCCTTCCGG	0.597																																					p.A432T		.											.	SPTB-100	0			c.G1294A						.						70	70	70					14																	65263322		2203	4300	6503	SO:0001583	missense	6710	exon10			TCATTGCGGCCTT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1294G>A	14.37:g.65263322C>T	ENSP00000374371:p.Ala432Thr	Somatic	73	0		WXS	Illumina GAIIx	Phase_I	100	43	NM_000347	0	0	0	0	0	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475829	0.84640	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	L	0.46670	1.46	0.80722	D	1	P;D	0.60575	0.884;0.988	P;P	0.54238	0.529;0.746	T	0.56679	-0.7939	10	0.56958	D	0.05	.	18.8548	0.92247	0.0:1.0:0.0:0.0	.	432;436	P11277;Q59FP5	SPTB1_HUMAN;.	T	436;432;432;432;432;432	ENSP00000374372:A432T;ENSP00000451752:A432T;ENSP00000374371:A432T;ENSP00000443882:A432T;ENSP00000374370:A432T	ENSP00000374370:A432T	A	-	1	0	SPTB	64333075	1.000000	0.71417	0.149000	0.22428	0.902000	0.53008	6.043000	0.71004	2.756000	0.94617	0.655000	0.94253	GCA	.		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65263322	C	T	65263322	3	4	62	1	0	0	0	0	1	0	0	0	15165	768	27	1	5865	1	SPTB	14	65263322	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	14175	65263322	42086218	1026	13394											
MPP5	64398	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	67768822	67768822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgtatagaaaaggctcGtgatattccgttggtaagtg	12	5	0	2	rs75595607	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:67768822G>A	ENST00000261681.4	+	6	1449	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MPP5_ENST00000555925.1_Missense_Mutation_p.R229H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	263	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		GAAAAGGCTCGTGATATTCCG	0.378													G|||	2	0.000399361	0	0	5008	,	,		14486	0.002		0	False		,,,				2504	0				p.R263H		.											.	MPP5-91	0			c.G788A						.						125	129	128					14																	67768822		2203	4300	6503	SO:0001583	missense	64398	exon6			AGGCTCGTGATAT	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.788G>A	14.37:g.67768822G>A	ENSP00000261681:p.Arg263His	Somatic	100	1		WXS	Illumina GAIIx	Phase_I	122	58	NM_022474	0	0	0	0	0	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.5	4.537127	0.85812	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28069	1.63;1.63	5.47	5.47	0.80525	PDZ/DHR/GLGF (3);	0.228496	0.39687	N	0.001286	T	0.33876	0.0878	N	0.12961	0.28	0.80722	D	1	P	0.44986	0.847	P	0.51974	0.686	T	0.19257	-1.0311	10	0.56958	D	0.05	.	19.3356	0.94316	0.0:0.0:1.0:0.0	.	263	Q8N3R9	MPP5_HUMAN	H	263;229	ENSP00000261681:R263H;ENSP00000451488:R229H	ENSP00000261681:R263H	R	+	2	0	MPP5	66838575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.578000	0.87016	0.650000	0.86243	CGT	G|0.999;A|0.001		0.378	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		A	67768822	G	A	67768822	3	1	62	1	0	0	0	0	1	0	0	0	9775	1145	40	1	802	1	MPP5	14	67768822	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2505500	67768822	39580718	1027	13395											
PCNX	22990	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	71492916	71492916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcttggattatggtaGcagaaacctgactgcaacca	10	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:71492916G>A	ENST00000304743.2	+	14	3712	c.3266G>A	c.(3265-3267)aGc>aAc	p.S1089N	PCNX_ENST00000439984.3_Missense_Mutation_p.S978N|PCNX_ENST00000238570.5_Missense_Mutation_p.S1089N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1089						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATTATGGTAGCAGAAACCTG	0.368																																					p.S1089N		.											.	PCNX-91	0			c.G3266A						.						128	117	121					14																	71492916		2202	4300	6502	SO:0001583	missense	22990	exon14			ATGGTAGCAGAAA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3266G>A	14.37:g.71492916G>A	ENSP00000304192:p.Ser1089Asn	Somatic	88	1		WXS	Illumina GAIIx	Phase_I	122	43	NM_014982	0	0	11	35	24	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.96|19.96	3.924195|3.924195	0.73213|0.73213	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.61274	.|0.12;0.12;0.12	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72590|0.72590	0.3479|0.3479	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.979;0.993	.|P;D	.|0.70227	.|0.69;0.968	T|T	0.68716|0.68716	-0.5335|-0.5335	5|10	.|0.36615	.|T	.|0.2	.|.	19.6932|19.6932	0.96010|0.96010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|978;1089	.|B2RTR6;Q96RV3	.|.;PCX1_HUMAN	T|N	148|1089;1089;978	.|ENSP00000304192:S1089N;ENSP00000238570:S1089N;ENSP00000396617:S978N	.|ENSP00000238570:S1089N	A|S	+|+	1|2	0|0	PCNX|PCNX	70562669|70562669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.368	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71492916	G	A	71492916	3	1	62	1	0	0	0	0	1	0	0	0	11630	971	34	3	3320	3	PCNX	14	71492916	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3724094	71492916	35856624	1028	13396											
ACOT4	122970	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	74061813	74061813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctgatatttgtctctcaAtggcctcattcttgaagaat	8	8	4	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:74061813A>C	ENST00000326303.4	+	3	975	c.721A>C	c.(721-723)Atg>Ctg	p.M241L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	241					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TTGTCTCTCAATGGCCTCATT	0.448																																					p.M241L		.											.	ACOT4-90	0			c.A721C						.						91	94	93					14																	74061813		2203	4300	6503	SO:0001583	missense	122970	exon3			CTCTCAATGGCCT	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.721A>C	14.37:g.74061813A>C	ENSP00000323071:p.Met241Leu	Somatic	123	1		WXS	Illumina GAIIx	Phase_I	143	58	NM_152331	0	0	1	3	2	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623719	0.87460	.	.	ENSG00000177465	ENST00000326303	T	0.27256	1.68	5.74	5.74	0.90152	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.037216	0.85682	D	0.000000	T	0.49949	0.1587	M	0.70108	2.13	0.80722	D	1	D	0.63046	0.992	D	0.67725	0.953	T	0.50898	-0.8773	10	0.59425	D	0.04	-21.7023	15.6979	0.77515	1.0:0.0:0.0:0.0	.	241	Q8N9L9	ACOT4_HUMAN	L	241	ENSP00000323071:M241L	ENSP00000323071:M241L	M	+	1	0	ACOT4	73131566	1.000000	0.71417	0.923000	0.36655	0.926000	0.56050	5.006000	0.63978	2.196000	0.70406	0.459000	0.35465	ATG	.		0.448	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		C	74061813	A	C	74061813	3	2	62	1	0	0	0	0	1	0	0	0	153	101	4	5	731	5	ACOT4	14	74061813	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	2568897	74061813	33287727	1029	13397											
TMED10	10972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	75643179	75643179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagagttaatgggcagaTggaaggagatggcaaggacc	17	5	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:75643179T>C	ENST00000303575.4	-	1	155	c.104A>G	c.(103-105)cAt>cGt	p.H35R		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	35	Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AATGGGCAGATGGAAGGAGAT	0.602																																					p.H35R		.											.	TMED10-90	0			c.A104G						.						83	83	83					14																	75643179		2203	4300	6503	SO:0001583	missense	10972	exon1			GGCAGATGGAAGG	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.104A>G	14.37:g.75643179T>C	ENSP00000303145:p.His35Arg	Somatic	296	0		WXS	Illumina GAIIx	Phase_I	417	139	NM_006827	0	0	157	322	165	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665079	0.67700	.	.	ENSG00000170348	ENST00000303575	T	0.16743	2.32	5.15	5.15	0.70609	GOLD (1);	0.252366	0.42053	D	0.000763	T	0.16041	0.0386	L	0.42008	1.315	0.40680	D	0.982292	B	0.17465	0.022	B	0.18263	0.021	T	0.04551	-1.0943	10	0.30854	T	0.27	-4.5716	12.6009	0.56497	0.0:0.0:0.0:1.0	.	35	P49755	TMEDA_HUMAN	R	35	ENSP00000303145:H35R	ENSP00000303145:H35R	H	-	2	0	TMED10	74712932	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.140000	0.50585	2.167000	0.68274	0.374000	0.22700	CAT	.		0.602	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		C	75643179	T	C	75643179	3	2	62	1	0	0	0	0	1	0	0	0	16050	1464	51	4	575	4	TMED10	14	75643179	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1581366	75643179	31706361	1030	13398											
POMT2	29954	hgsc.bcm.edu	37	chr14	77786922	77786922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcgcgccacagcctcagCggccacgtcccggcctgcgg	13	19	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:77786922C>T	ENST00000261534.4	-	1	305	c.103G>A	c.(103-105)Gct>Act	p.A35T	GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000393734.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	35						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACAGCCTCAGCGGCCACGTCC	0.761																																					p.A35T		.											.	POMT2-91	0			c.G103A						.						7	8	8					14																	77786922		2078	4101	6179	SO:0001583	missense	29954	exon1			CCTCAGCGGCCAC	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.103G>A	14.37:g.77786922C>T	ENSP00000261534:p.Ala35Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	40	25	NM_013382	0	0	0	1	1	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.307996	0.05458	.	.	ENSG00000009830	ENST00000261534	T	0.77229	-1.08	5.2	-1.4	0.08968	.	1.051530	0.07485	N	0.904549	T	0.50326	0.1609	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	10	0.13108	T	0.6	0.2868	1.7352	0.02940	0.1305:0.4392:0.127:0.3033	.	35	Q9UKY4	POMT2_HUMAN	T	35	ENSP00000261534:A35T	ENSP00000261534:A35T	A	-	1	0	POMT2	76856675	0.000000	0.05858	0.005000	0.12908	0.128000	0.20619	-1.807000	0.01734	-0.647000	0.05444	-0.219000	0.12488	GCT	.		0.761	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		T	77786922	C	T	77786922	3	4	62	1	0	0	0	0	1	0	0	0	12285	768	27	1	2233	1	POMT2	14	77786922	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2143743	77786922	29562618	1031	13399											
SPTLC2	9517	broad.mit.edu;bcgsc.ca	37	chr14	78036740	78036740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttactttgccaacaagaGcaggaatgttcattgaattc	7	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:78036740G>A	ENST00000216484.2	-	5	936	c.743C>T	c.(742-744)gCt>gTt	p.A248V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	248					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GCCAACAAGAGCAGGAATGTT	0.393																																					p.A248V		.											.	SPTLC2-92	0			c.C743T						.						185	169	174					14																	78036740		2203	4300	6503	SO:0001583	missense	9517	exon5			ACAAGAGCAGGAA	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.743C>T	14.37:g.78036740G>A	ENSP00000216484:p.Ala248Val	Somatic	48	1		WXS	Illumina GAIIx	Phase_I	72	33	NM_004863	0	0	0	0	0	Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797032	0.70567	.	.	ENSG00000100596	ENST00000216484	D	0.91180	-2.8	5.49	5.49	0.81192	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.62266	1.93	0.80722	D	1	B	0.28026	0.198	B	0.24006	0.05	D	0.86918	0.2065	10	0.46703	T	0.11	-15.5679	19.7445	0.96247	0.0:0.0:1.0:0.0	.	248	O15270	SPTC2_HUMAN	V	248	ENSP00000216484:A248V	ENSP00000216484:A248V	A	-	2	0	SPTLC2	77106493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.739000	0.93911	0.655000	0.94253	GCT	.		0.393	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		A	78036740	G	A	78036740	3	1	62	1	0	0	0	0	1	0	0	0	15171	971	34	3	977	3	SPTLC2	14	78036740	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	249818	78036740	29312800	1032	13400											
DIO2	1734	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	80677760	80677760	+	Frame_Shift_Del	DEL	A	A	-													ccaggaagaggcagttggagAaaaaaactggcagaatttgc					rs148778534		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:80677760delA	ENST00000557010.1	-	3	441	c.56delT	c.(55-57)ttcfs	p.F19fs	DIO2_ENST00000557125.1_Intron|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000438257.4_Frame_Shift_Del_p.F19fs|DIO2_ENST00000422005.3_Frame_Shift_Del_p.F19fs|DIO2_ENST00000555750.1_Frame_Shift_Del_p.F19fs	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	19					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAGTTGGAGAAAAAAACTGG	0.557																																					p.F19fs		.											.	DIO2-22	0			c.56delT						.						35	37	37					14																	80677760		2027	4173	6200	SO:0001589	frameshift_variant	1734	exon1			TTGGAGAAAAAAA	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.56delT	14.37:g.80677760delA	ENSP00000451419:p.Phe19fs	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	92	15	NM_001242503	0	0	0	0	0	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Frame_Shift_Del	DEL	ENST00000557010.1	37	CCDS45146.1																																																																																			.		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			-	80677760	A	-	80677760	7	5	62	1	0	1	0	1	0	0	0	0	4539	246	9	0	885	0	DIO2	14	80677760	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	2641020	80677760	26671780	1033	13401											
TSHR	7253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81557476	81557476	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttattccactgatatAttctttatactgtaagtatg	5	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:81557476A>T	ENST00000541158.2	+	6	778	c.456A>T	c.(454-456)atA>atT	p.I152I	TSHR_ENST00000298171.2_Silent_p.I152I|TSHR_ENST00000554435.1_Silent_p.I152I|TSHR_ENST00000342443.6_Silent_p.I152I|TSHR_ENST00000554263.1_Silent_p.I152I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	152					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCACTGATATATTCTTTATAC	0.328			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.I152I		.	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	TSHR-1650	0			c.A456T						.						122	119	120					14																	81557476		2203	4300	6503	SO:0001819	synonymous_variant	7253	exon5			TGATATATTCTTT	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.456A>T	14.37:g.81557476A>T		Somatic	48	0		WXS	Illumina GAIIx	Phase_I	34	18	NM_000369	0	0	0	0	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																			.		0.328	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		T	81557476	A	T	81557476	2	4	62	1	0	0	0	0	0	0	0	1	16670	439	16	5		5	TSHR	14	81557476	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	879716	81557476	25792064	1034	13402											
FLRT2	23768	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	86089453	86089453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtccagccatgagcagaCgacgtcccacagcatgggct	12	14	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:86089453C>T	ENST00000330753.4	+	2	2362	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	FLRT2_ENST00000554746.1_Missense_Mutation_p.T532M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	532					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGAGCAGACGACGTCCCAC	0.577																																					p.T532M		.											.	FLRT2-94	0			c.C1595T						.						98	98	98					14																	86089453		2203	4300	6503	SO:0001583	missense	23768	exon2			AGCAGACGACGTC	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1595C>T	14.37:g.86089453C>T	ENSP00000332879:p.Thr532Met	Somatic	165	1		WXS	Illumina GAIIx	Phase_I	184	79	NM_013231	0	0	1	3	2	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020393	0.54576	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56941	0.43;0.43	6.17	6.17	0.99709	.	0.098876	0.64402	D	0.000001	T	0.43590	0.1254	L	0.29908	0.895	0.44316	D	0.997198	P	0.35174	0.488	B	0.28465	0.09	T	0.27806	-1.0063	10	0.39692	T	0.17	-7.1821	20.8794	0.99867	0.0:1.0:0.0:0.0	.	532	O43155	FLRT2_HUMAN	M	532;532;185	ENSP00000332879:T532M;ENSP00000451050:T532M	ENSP00000332879:T532M	T	+	2	0	FLRT2	85159206	1.000000	0.71417	0.985000	0.45067	0.645000	0.38454	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	ACG	.		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86089453	C	T	86089453	3	4	62	1	0	0	0	0	1	0	0	0	5961	536	19	1	1597	1	FLRT2	14	86089453	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4531977	86089453	21260087	1035	13403											
SMEK1	55671	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	91927933	91927933	+	Frame_Shift_Del	DEL	T	T	-													ttgttttcagaagcacttccTtttcctcactttcttttact							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:91927933delT	ENST00000554943.1	-	14	2298	c.2183delA	c.(2182-2184)aagfs	p.K728fs	SMEK1_ENST00000554684.1_Frame_Shift_Del_p.K715fs|SMEK1_ENST00000555462.1_Frame_Shift_Del_p.K489fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.K715fs|SMEK1_ENST00000428424.2_Frame_Shift_Del_p.K489fs|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	728					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAGCACTTCCTTTTCCTCACT	0.408																																					p.K715fs		.											.	SMEK1-226	0			c.2144delA						.						91	97	95					14																	91927933		2203	4300	6503	SO:0001589	frameshift_variant	55671	exon15			ACTTCCTTTTCCT	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2183delA	14.37:g.91927933delT	ENSP00000450883:p.Lys728fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	102	38	NM_032560	0	0	0	0	0	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Del	DEL	ENST00000554943.1	37																																																																																				.		0.408	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		-	91927933	T	-	91927933	7	5	62	1	0	1	0	1	0	0	0	0	14838	1609	56	0	326	0	SMEK1	14	91927933	Frame_Shift_Del	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	5838480	91927933	15421607	1036	13404											
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	92792243	92792243	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcttctgctagcaaacgtgtCctgccagacacgtggagaaa	11	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:92792243C>A	ENST00000532405.1	+	2	388	c.162C>A	c.(160-162)gtC>gtA	p.V54V	SLC24A4_ENST00000531433.1_Silent_p.V54V|SLC24A4_ENST00000351924.5_Silent_p.V37V|SLC24A4_ENST00000298877.1_Silent_p.V37V|SLC24A4_ENST00000393265.2_De_novo_Start_InFrame			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	54					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAAACGTGTCCTGCCAGACA	0.463																																					p.V54V	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4-93	0			c.C162A						.						80	73	75					14																	92792243		2203	4300	6503	SO:0001819	synonymous_variant	123041	exon2			ACGTGTCCTGCCA	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.162C>A	14.37:g.92792243C>A		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	98	41	NM_153646	0	0	0	0	0	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2																																																																																			.		0.463	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		A	92792243	C	A	92792243	2	1	62	1	0	0	0	0	0	0	0	1	14513	842	30	3		3	SLC24A4	14	92792243	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	864310	92792243	14557297	1037	13405											
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	92909757	92909757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggtggtccgtctgaCgtggtgggccgtgtgccgag	19	10	1	1	rs372741185		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:92909757C>T	ENST00000532405.1	+	7	822	c.596C>T	c.(595-597)aCg>aTg	p.T199M	SLC24A4_ENST00000531433.1_Missense_Mutation_p.T199M|SLC24A4_ENST00000351924.5_Missense_Mutation_p.T182M|SLC24A4_ENST00000298877.1_Missense_Mutation_p.T182M|SLC24A4_ENST00000393265.2_Missense_Mutation_p.T135M			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	199					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T182M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTCCGTCTGACGTGGTGGGCC	0.662																																					p.T199M	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4-93	1	Substitution - Missense(1)	breast(1)	c.C596T						.	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	161	113	129		596,596,404	5	1	14		129	0,8600		0,0,4300	no	missense,missense,missense	SLC24A4	NM_153646.3,NM_153647.3,NM_153648.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	199/623,199/604,135/559	92909757	1,13005	2203	4300	6503	SO:0001583	missense	123041	exon7			GTCTGACGTGGTG	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.596C>T	14.37:g.92909757C>T	ENSP00000431840:p.Thr199Met	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	148	64	NM_153646	0	0	0	0	0	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612312	0.87258	2.27E-4	0.0	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.99	4.99	0.66335	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.78801	2.425	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.98	T	0.82248	-0.0551	10	0.66056	D	0.02	.	16.4342	0.83869	0.0:1.0:0.0:0.0	.	199;135;199	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	M	135;199;199;182;182	ENSP00000376948:T135M;ENSP00000433302:T199M;ENSP00000431840:T199M;ENSP00000298877:T182M;ENSP00000337789:T182M	ENSP00000298877:T182M	T	+	2	0	SLC24A4	91979510	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.399000	0.79935	2.304000	0.77564	0.462000	0.41574	ACG	.		0.662	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		T	92909757	C	T	92909757	3	4	62	1	0	0	0	0	1	0	0	0	14513	536	19	1	571	1	SLC24A4	14	92909757	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	117514	92909757	14439783	1038	13406											
GOLGA5	9950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	93277940	93277940	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagtggaaatggaacgtcaGaatttagcagaagcaattac	10	5	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:93277940G>A	ENST00000163416.2	+	6	1417	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	GOLGA5_ENST00000355976.2_Silent_p.Q387Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	387					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGGAACGTCAGAATTTAGCAG	0.358			T	RET	papillary thyroid																																p.Q387Q		.		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	.	GOLGA5-677	0			c.G1161A						.						91	93	92					14																	93277940		2203	4300	6503	SO:0001819	synonymous_variant	9950	exon6			ACGTCAGAATTTA	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1161G>A	14.37:g.93277940G>A		Somatic	314	1		WXS	Illumina GAIIx	Phase_I	364	145	NM_005113	0	0	37	69	32	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	ENST00000163416.2	37	CCDS9905.1																																																																																			.		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			A	93277940	G	A	93277940	2	1	62	1	0	0	0	0	0	0	0	1	6582	933	33	3		3	GOLGA5	14	93277940	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	368183	93277940	14071600	1039	13407											
KIAA1409	57578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	93954014	93954014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttggttgcagtgggcTcctcaaggagagaaggtgta	14	6	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:93954014T>C	ENST00000393151.2	+	5	625	c.625T>C	c.(625-627)Tcc>Ccc	p.S209P	UNC79_ENST00000553484.1_Missense_Mutation_p.S209P|UNC79_ENST00000256339.4_Missense_Mutation_p.S32P|UNC79_ENST00000555664.1_Missense_Mutation_p.S209P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209					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						TGCAGTGGGCTCCTCAAGGAG	0.398																																					p.S32P		.											.	.	0			c.T94C						.						130	119	123					14																	93954014		2203	4300	6503	SO:0001583	missense	57578	exon5			GTGGGCTCCTCAA	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.625T>C	14.37:g.93954014T>C	ENSP00000376858:p.Ser209Pro	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	81	30	NM_020818	0	0	0	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	T	15.31	2.795047	0.50208	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19394	2.15;2.16;2.15;2.15	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	L	0.36672	1.1	0.52099	D	0.999943	D;D	0.59767	0.986;0.986	P;P	0.51229	0.663;0.663	T	0.01099	-1.1452	10	0.41790	T	0.15	-9.7376	15.5019	0.75705	0.0:0.0:0.0:1.0	.	209;209	C9JQL1;Q9P2D8	.;UNC79_HUMAN	P	32;209;209;209;209	ENSP00000256339:S32P;ENSP00000450868:S209P;ENSP00000451360:S209P;ENSP00000376858:S209P	ENSP00000256339:S32P	S	+	1	0	KIAA1409	93023767	1.000000	0.71417	0.980000	0.43619	0.592000	0.36648	4.833000	0.62766	2.074000	0.62210	0.482000	0.46254	TCC	.		0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	93954014	T	C	93954014	3	2	62	1	0	0	0	0	1	0	0	0	8257	1551	54	4	100	4	KIAA1409	14	93954014	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	676074	93954014	13395526	1040	13408											
SERPINA6	866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	94772527	94772527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagactccagagatggTgacctttggaatgtacaggt	12	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:94772527T>C	ENST00000341584.3	-	4	1059	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	305					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCAGAGATGGTGACCTTTGGA	0.557																																					p.T305A		.											.	SERPINA6-653	0			c.A913G						.						105	89	94					14																	94772527		2203	4300	6503	SO:0001583	missense	866	exon4			AGATGGTGACCTT	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.913A>G	14.37:g.94772527T>C	ENSP00000342850:p.Thr305Ala	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	132	69	NM_001756	0	0	0	0	0	A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792756	0.31685	.	.	ENSG00000170099	ENST00000341584	D	0.84298	-1.83	4.69	1.01	0.19927	Serpin domain (3);	0.470065	0.19535	N	0.111937	T	0.70124	0.3188	N	0.21508	0.67	0.23331	N	0.997897	B	0.02656	0.0	B	0.08055	0.003	T	0.60037	-0.7341	10	0.72032	D	0.01	.	2.6135	0.04898	0.5437:0.1243:0.0742:0.2578	.	305	P08185	CBG_HUMAN	A	305	ENSP00000342850:T305A	ENSP00000342850:T305A	T	-	1	0	SERPINA6	93842280	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	1.519000	0.35888	0.368000	0.24481	-0.339000	0.08088	ACC	.		0.557	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		C	94772527	T	C	94772527	3	2	62	1	0	0	0	0	1	0	0	0	14138	1696	59	4	312	4	SERPINA6	14	94772527	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	818513	94772527	12577013	1041	13409											
SERPINA3	12	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgggcattgaggaagCcttcaccagcaaggctgacc	12	13	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:95088767C>T	ENST00000467132.1	+	4	2155	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502																																					p.A336V		.											.	SERPINA3-653	0			c.C1007T						.						101	92	95					14																	95088767		2203	4300	6503	SO:0001583	missense	12	exon4			AGGAAGCCTTCAC	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1007C>T	14.37:g.95088767C>T	ENSP00000450540:p.Ala336Val	Somatic	90	0		WXS	Illumina GAIIx	Phase_I	128	52	NM_001085	0	0	24	41	17	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	1.237	-0.622336	0.03636	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.84	3.69	0.42338	Serpin domain (3);	0.108804	0.38778	N	0.001564	T	0.58409	0.2120	N	0.01649	-0.78	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.004	T	0.50268	-0.8848	10	0.02654	T	1	.	9.3788	0.38299	0.0:0.0856:0.0:0.9144	.	336;361	P01011;G3V5I3	AACT_HUMAN;.	V	361;336;336;336;118	ENSP00000452367:A361V;ENSP00000376793:A336V;ENSP00000376795:A336V;ENSP00000450540:A336V;ENSP00000451119:A118V	ENSP00000376793:A336V	A	+	2	0	SERPINA3	94158520	0.332000	0.24722	0.535000	0.28026	0.010000	0.07245	2.210000	0.42816	0.876000	0.35872	-0.487000	0.04747	GCC	.		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		T	95088767	C	T	95088767	3	4	62	1	0	0	0	0	1	0	0	0	14135	739	26	3	1017	3	SERPINA3	14	95088767	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	316240	95088767	12260773	1042	13410											
C14orf49	161176	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	95932517	95932517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcttctggaaccagcgGtagaactcatctcgggccag	10	12	5	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:95932517G>A	ENST00000334258.5	-	3	392	c.378C>T	c.(376-378)taC>taT	p.Y126Y	SYNE3_ENST00000553340.1_Silent_p.Y126Y|SYNE3_ENST00000557275.1_Silent_p.Y126Y	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	126					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGAACCAGCGGTAGAACTCAT	0.622																																					p.Y126Y		.											.	.	0			c.C378T						.						66	69	68					14																	95932517		2203	4300	6503	SO:0001819	synonymous_variant	161176	exon3			CCAGCGGTAGAAC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.378C>T	14.37:g.95932517G>A		Somatic	66	1		WXS	Illumina GAIIx	Phase_I	79	36	NM_152592	0	0	1	1	0	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																			.		0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		A	95932517	G	A	95932517	2	1	62	1	0	0	0	0	0	0	0	1	1781	1256	44	3		3	C14orf49	14	95932517	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	843750	95932517	11417023	1043	13411											
PAPOLA	10914	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	97027050	97027050	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaacagaagcaaaggTatactaatttagcctttaga	7	5	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:97027050T>C	ENST00000216277.8	+	20	2287		c.e20+2		PAPOLA_ENST00000392990.2_Intron	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAAGCAAAGGTATACTAATTT	0.284																																					.	NSCLC(19;254 734 11908 35501 39234)	.											.	PAPOLA-68	0			c.2067+2T>C						.						84	89	87					14																	97027050		2203	4284	6487	SO:0001630	splice_region_variant	10914	exon20			CAAAGGTATACTA	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2067+2T>C	14.37:g.97027050T>C		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	140	51	NM_032632	0	0	0	1	1	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Splice_Site	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295418	0.60086	.	.	ENSG00000090060	ENST00000216277;ENST00000555626	.	.	.	5.71	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4239	0.49998	0.0:0.0:0.1511:0.8489	.	.	.	.	.	-1	.	.	.	+	.	.	PAPOLA	96096803	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.382000	0.52463	0.966000	0.38159	0.528000	0.53228	.	.		0.284	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		Intron	C	97027050	T	C	97027050	5	2	62	1	0	0	0	0	0	0	1	0	11468	1652	57	4	2147	4	PAPOLA	14	97027050	Splice_Site	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1094533	97027050	10322490	1044	13412											
BCL11B	64919	broad.mit.edu;mdanderson.org	37	chr14	99640941	99640941	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggctgccgttctcggaCgagtgctcggacgacgtggc	16	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99640941C>A	ENST00000357195.3	-	4	2241	c.2232G>T	c.(2230-2232)tcG>tcT	p.S744S	BCL11B_ENST00000443726.2_Silent_p.S550S|BCL11B_ENST00000345514.2_Silent_p.S673S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	744					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTTCTCGGACGAGTGCTCGG	0.731			T	TLX3	T-ALL																																p.S744S		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.G2232T						.						12	11	11					14																	99640941		2157	4226	6383	SO:0001819	synonymous_variant	64919	exon4			CTCGGACGAGTGC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2232G>T	14.37:g.99640941C>A		Somatic	11	0		WXS	Illumina GAIIx	Phase_I	54	20	NM_138576	0	0	0	0	0	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.731	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99640941	C	A	99640941	2	1	62	1	0	0	0	0	0	0	0	1	1365	523	19	2		2	BCL11B	14	99640941	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2613891	99640941	7708599	1045	13413											
BCL11B	64919	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	99641025	99641025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagtgccgcgacgcCgcgtagcccaccagccactg	11	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99641025C>T	ENST00000357195.3	-	4	2157	c.2148G>A	c.(2146-2148)gcG>gcA	p.A716A	BCL11B_ENST00000443726.2_Silent_p.A522A|BCL11B_ENST00000345514.2_Silent_p.A645A	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	716					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGCGACGCCGCGTAGCCCA	0.682			T	TLX3	T-ALL																																p.A716A		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.G2148A						.						23	20	21					14																	99641025		2191	4291	6482	SO:0001819	synonymous_variant	64919	exon4			CGACGCCGCGTAG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2148G>A	14.37:g.99641025C>T		Somatic	29	0		WXS	Illumina GAIIx	Phase_I	119	48	NM_138576	0	0	0	0	0	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.682	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99641025	C	T	99641025	2	4	62	1	0	0	0	0	0	0	0	1	1365	639	23	1		1	BCL11B	14	99641025	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	84	99641025	7708515	1046	13414											
BCL11B	64919	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	99697775	99697775	+	Frame_Shift_Del	DEL	G	G	-													gcgcgcgctgcagcacggcaGggggaggcagggcgggagag					rs201298258		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99697775delG	ENST00000357195.3	-	3	556	c.547delC	c.(547-549)ctgfs	p.L183fs	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	183					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGCACGGCAGGGGGAGGCAG	0.677			T	TLX3	T-ALL																																p.L183fs		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.547delC						.						20	22	21					14																	99697775		2200	4296	6496	SO:0001589	frameshift_variant	64919	exon3			ACGGCAGGGGGAG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.547delC	14.37:g.99697775delG	ENSP00000349723:p.Leu183fs	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	185	57	NM_138576	0	0	0	0	0	Q9H162	Frame_Shift_Del	DEL	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.677	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		-	99697775	G	-	99697775	7	5	62	1	0	1	0	1	0	0	0	0	1365	991	35	0	2145	0	BCL11B	14	99697775	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	56750	99697775	7651765	1047	13415											
C14orf68	283600	mdanderson.org	37	chr14	100793571	100793571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcccgtgtgcacggtgtCcctggtatcttccgtgtctt	12	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:100793571C>T	ENST00000361529.3	+	4	269	c.191C>T	c.(190-192)tCc>tTc	p.S64F	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	64					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGCACGGTGTCCCTGGTATCT	0.672																																					p.S64F	GBM(11;1289 1351)	.											.	SLC25A47-91	0			c.C191T						.						130	128	129					14																	100793571		2203	4300	6503	SO:0001583	missense	283600	exon4			CGGTGTCCCTGGT		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.191C>T	14.37:g.100793571C>T	ENSP00000354886:p.Ser64Phe	Somatic	24	1		WXS	Illumina GAIIx	Phase_I	47	16	NM_207117	0	0	0	0	0	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506251	0.64410	.	.	ENSG00000140107	ENST00000361529	T	0.79247	-1.25	4.71	4.71	0.59529	Mitochondrial carrier domain (2);	0.423882	0.29459	N	0.012081	T	0.82107	0.4965	L	0.35793	1.09	0.80722	D	1	P	0.49961	0.93	P	0.62885	0.908	D	0.84219	0.0460	10	0.87932	D	0	11.5663	16.0555	0.80801	0.0:1.0:0.0:0.0	.	64	Q6Q0C1	S2547_HUMAN	F	64	ENSP00000354886:S64F	ENSP00000354886:S64F	S	+	2	0	SLC25A47	99863324	1.000000	0.71417	0.995000	0.50966	0.243000	0.25628	7.178000	0.77657	2.454000	0.82982	0.485000	0.47835	TCC	.		0.672	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			T	100793571	C	T	100793571	3	4	62	1	0	0	0	0	1	0	0	0	1783	855	30	3	205	3	C14orf68	14	100793571	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1095796	100793571	6555969	1048	13416											
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102476260	102476260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttcatcaccatgaacCctggctacgcgggccggtct	9	16	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102476260C>T	ENST00000360184.4	+	30	6222	c.6058C>T	c.(6058-6060)Cct>Tct	p.P2020S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2020	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCATGAACCCTGGCTACGC	0.552																																					p.P2020S		.											.	DYNC1H1-98	0			c.C6058T						.						62	59	60					14																	102476260		2203	4300	6503	SO:0001583	missense	1778	exon30			ATGAACCCTGGCT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6058C>T	14.37:g.102476260C>T	ENSP00000348965:p.Pro2020Ser	Somatic	146	0		WXS	Illumina GAIIx	Phase_I	166	75	NM_001376	0	0	39	63	24	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252651	0.95336	.	.	ENSG00000197102	ENST00000360184	T	0.15372	2.43	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69665	-0.5084	10	0.87932	D	0	.	19.3801	0.94529	0.0:1.0:0.0:0.0	.	2020	Q14204	DYHC1_HUMAN	S	2020	ENSP00000348965:P2020S	ENSP00000348965:P2020S	P	+	1	0	DYNC1H1	101546013	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.725000	0.84808	2.644000	0.89710	0.655000	0.94253	CCT	.		0.552	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102476260	C	T	102476260	3	4	62	1	0	0	0	0	1	0	0	0	4855	623	22	3	6176	3	DYNC1H1	14	102476260	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1682689	102476260	4873280	1049	13417											
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	102516785	102516785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtaaccttacctgTctacctgaacttcacccgtg	7	14	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102516785T>A	ENST00000360184.4	+	78	13990	c.13826T>A	c.(13825-13827)gTc>gAc	p.V4609D	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4609					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCTTACCTGTCTACCTGAAC	0.542																																					p.V4609D		.											.	DYNC1H1-98	0			c.T13826A						.						177	182	180					14																	102516785		2203	4300	6503	SO:0001583	missense	1778	exon78			TACCTGTCTACCT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13826T>A	14.37:g.102516785T>A	ENSP00000348965:p.Val4609Asp	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	138	65	NM_001376	0	0	0	2	2	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500787	0.64298	.	.	ENSG00000197102	ENST00000360184	T	0.12774	2.65	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.56685	-0.7938	10	0.87932	D	0	.	15.8204	0.78638	0.0:0.0:0.0:1.0	.	4609	Q14204	DYHC1_HUMAN	D	4609	ENSP00000348965:V4609D	ENSP00000348965:V4609D	V	+	2	0	DYNC1H1	101586538	1.000000	0.71417	0.929000	0.37066	0.080000	0.17528	7.740000	0.84986	2.146000	0.66826	0.459000	0.35465	GTC	.		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102516785	T	A	102516785	3	1	62	1	0	0	0	0	1	0	0	0	4855	1667	58	5	14136	5	DYNC1H1	14	102516785	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	40525	102516785	4832755	1050	13418											
ZNF839	55778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	102807679	102807680	+	Frame_Shift_Del	DEL	TG	TG	-													ggtttttcccctccagtaaaTgtgactgtctctccccgttc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102807679_102807680delTG	ENST00000558850.1	+	8	1949_1950	c.1599_1600delTG	c.(1597-1602)aatgtgfs	p.V534fs	ZNF839_ENST00000442396.2_Frame_Shift_Del_p.V650fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.V534fs|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.V536fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	534							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						CTCCAGTAAATGTGACTGTCTC	0.53																																					p.649_650del		.											.	ZNF839-91	0			c.1947_1948del						.																																			SO:0001589	frameshift_variant	55778	exon8			AGTAAATGTGACT	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.1599_1600delTG	14.37:g.102807681_102807682delTG	ENSP00000453363:p.Val534fs	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	273	86	NM_018335	0	0	0	0	0	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	CCDS58336.1																																																																																			.		0.53	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		-	102807680	TG	-	102807679	7	5	62	1	0	1	0	1	0	0	0	0	18236	1461	51	0	1977	0	ZNF839	14	102807679	Frame_Shift_Del	DEL	TG	TCGA-PK-A5HB-01A-11D-A29I-10	290894	102807679	4541861	1051	13419											
CINP	51550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102816363	102816363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtagttgaagacagctttTccattttcacctgtattttg	8	7	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102816363T>A	ENST00000216756.6	-	4	369	c.329A>T	c.(328-330)gAa>gTa	p.E110V	CINP_ENST00000536961.2_Missense_Mutation_p.E125V|CINP_ENST00000541568.2_Intron|CINP_ENST00000560326.1_5'Flank	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	110					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						AGACAGCTTTTCCATTTTCAC	0.373																																					p.E125V		.											.	CINP-178	0			c.A374T						.						128	122	124					14																	102816363		2203	4300	6503	SO:0001583	missense	51550	exon4			AGCTTTTCCATTT	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.329A>T	14.37:g.102816363T>A	ENSP00000216756:p.Glu110Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	109	54	NM_001177611	0	0	47	89	42	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833343	0.91036	.	.	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.52295	0.69;0.67	5.9	5.9	0.94986	.	0.051739	0.85682	D	0.000000	T	0.69251	0.3090	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.73500	-0.3963	10	0.87932	D	0	-0.2658	16.3317	0.83023	0.0:0.0:0.0:1.0	.	110	Q9BW66	CINP_HUMAN	V	110;125	ENSP00000216756:E110V;ENSP00000442057:E125V	ENSP00000216756:E110V	E	-	2	0	CINP	101886116	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.615000	0.61190	2.264000	0.75181	0.533000	0.62120	GAA	.		0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		A	102816363	T	A	102816363	3	1	62	1	0	0	0	0	1	0	0	0	3438	1783	62	5	317	5	CINP	14	102816363	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	8684	102816363	4533177	1052	13420											
TECPR2	9895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	102931570	102931570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccgtgtagggactcagCctctcaatcccagtctcatg	8	14	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102931570C>T	ENST00000359520.7	+	17	3959	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P1245S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1245					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						AGGGACTCAGCCTCTCAATCC	0.493																																					p.P1245S		.											.	TECPR2-92	0			c.C3733T						.						143	130	135					14																	102931570		2203	4300	6503	SO:0001583	missense	9895	exon17			ACTCAGCCTCTCA	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.3733C>T	14.37:g.102931570C>T	ENSP00000352510:p.Pro1245Ser	Somatic	142	0		WXS	Illumina GAIIx	Phase_I	179	79	NM_001172631	0	0	7	14	7	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973395	0.92919	.	.	ENSG00000196663	ENST00000359520	T	0.79247	-1.25	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	N	0.24115	0.695	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	0.84308	0.0509	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	428;1245;1245	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	S	1245	ENSP00000352510:P1245S	ENSP00000352510:P1245S	P	+	1	0	TECPR2	102001323	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.867000	0.75511	2.780000	0.95670	0.655000	0.94253	CCT	.		0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102931570	C	T	102931570	3	4	62	1	0	0	0	0	1	0	0	0	15791	739	26	3	3795	3	TECPR2	14	102931570	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	115207	102931570	4417970	1053	13421											
TRMT61A	115708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	103999082	103999082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcacccaggacgtgtgCcgcagtggctttggcgtgag	17	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:103999082C>T	ENST00000389749.4	+	3	602	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	165						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						AGGACGTGTGCCGCAGTGGCT	0.692																																					p.C165C		.											.	TRMT61A-90	0			c.C495T						.						25	32	30					14																	103999082		2104	4219	6323	SO:0001819	synonymous_variant	115708	exon3			CGTGTGCCGCAGT	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.495C>T	14.37:g.103999082C>T		Somatic	96	0		WXS	Illumina GAIIx	Phase_I	256	124	NM_152307	0	0	4	5	1	A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	C	1.844	-0.466819	0.04476	.	.	ENSG00000166166	ENST00000299202	.	.	.	5.1	4.0	0.46444	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68142	-0.5487	4	.	.	.	-2.4747	14.4286	0.67233	0.0:0.9157:0.0:0.0843	.	.	.	.	V	67	.	.	A	+	2	0	TRMT61A	103068835	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	2.056000	0.41355	2.347000	0.79759	0.462000	0.41574	GCC	.		0.692	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		T	103999082	C	T	103999082	2	4	62	1	0	0	0	0	0	0	0	1	16617	747	26	3		3	TRMT61A	14	103999082	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1067512	103999082	3350458	1054	13422											
PPP1R13B	23368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	104206356	104206356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgagctcctctggttcGggggaaggtaactcattatc	12	9	2	2	rs376403203		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:104206356G>A	ENST00000202556.9	-	12	2679	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	PPP1R13B_ENST00000423488.2_Silent_p.P218P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	799	Pro-rich.				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.P799P(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)				CCTCTGGTTCGGGGGAAGGTA	0.607																																					p.P799P		.											.	PPP1R13B-227	1	Substitution - coding silent(1)	endometrium(1)	c.C2397T						.	G		0,4004		0,0,2002	54	61	59		2397	-10.2	0	14		59	1,8343		0,1,4171	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,6173	AA,AG,GG		0.012,0.0,0.0081		799/1091	104206356	1,12347	2002	4172	6174	SO:0001819	synonymous_variant	23368	exon12			TGGTTCGGGGGAA	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.2397C>T	14.37:g.104206356G>A		Somatic	42	0		WXS	Illumina GAIIx	Phase_I	70	23	NM_015316	0	0	9	14	5	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	CCDS41997.1																																																																																			.		0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		A	104206356	G	A	104206356	2	1	62	1	0	0	0	0	0	0	0	1	12399	1103	39	1		1	PPP1R13B	14	104206356	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	207274	104206356	3143184	1055	13423											
KIF26A	26153	hgsc.bcm.edu	37	chr14	104644099	104644099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcggtggcagcagTggctatgagagcctgcggcg	16	12	0	1	rs2497297	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3	4	4		4974	-0.8	1	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	18	10	NM_015656	0	0	7	23	16	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			C	104644099	T	C	104644099	2	2	62	1	0	0	0	0	0	0	0	1	8321	1693	59	4		4	KIF26A	14	104644099	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	437743	104644099	2705441	1056	13424											
INF2	64423	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	105172438	105172438	+	Frame_Shift_Del	DEL	G	G	-													gaggctaaggccgaggacgaGgaggagctgctgcgagtctc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105172438delG	ENST00000392634.4	+	6	880	c.768delG	c.(766-768)gagfs	p.E258fs	INF2_ENST00000330634.7_Frame_Shift_Del_p.E258fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	258	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		CCGAGGACGAGGAGGAGCTGC	0.657																																					p.E256fs		.											.	INF2-492	0			c.768delG						.						25	31	29					14																	105172438		2073	4211	6284	SO:0001589	frameshift_variant	64423	exon6			GGACGAGGAGGAG	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.768delG	14.37:g.105172438delG	ENSP00000376410:p.Glu258fs	Somatic	159	0		WXS	Illumina GAIIx	Phase_I	262	116	NM_022489	0	0	0	0	0	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Del	DEL	ENST00000392634.4	37	CCDS9989.2																																																																																			.		0.657	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		-	105172438	G	-	105172438	7	5	62	1	0	1	0	1	0	0	0	0	7761	991	35	0	790	0	INF2	14	105172438	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	528339	105172438	2177102	1057	13425											
KIAA0284	283638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105350368	105350368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacacaccccgaaagaagCgctcccagtccttcacgcac	8	17	1	1	rs372246157		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105350368C>T	ENST00000414716.3	+	9	1480	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	CEP170B_ENST00000453495.1_Missense_Mutation_p.R419C|CEP170B_ENST00000556508.1_Missense_Mutation_p.R348C|CEP170B_ENST00000418279.1_Missense_Mutation_p.R348C	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	418						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCGAAAGAAGCGCTCCCAGTC	0.662																																					p.R418C		.											.	.	0			c.C1252T						.	C	CYS/ARG,CYS/ARG	0,4068		0,0,2034	30	35	33		1252,1042	4.2	1	14		33	1,8309		0,1,4154	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	180,180	0,1,6188	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	418/1555,348/1520	105350368	1,12377	2034	4155	6189	SO:0001583	missense	283638	exon9			AAGAAGCGCTCCC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1252C>T	14.37:g.105350368C>T	ENSP00000404151:p.Arg418Cys	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	164	65	NM_001112726	0	0	0	0	0	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133093	0.77662	0.0	1.2E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000556215	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.982	T	0.44967	-0.9293	10	0.87932	D	0	-11.0509	12.6228	0.56614	0.1665:0.8335:0.0:0.0	.	418;418;348	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	C	348;418;419;348;138	ENSP00000451249:R348C;ENSP00000404151:R418C;ENSP00000407238:R419C;ENSP00000415006:R348C	ENSP00000404151:R418C	R	+	1	0	KIAA0284	104421413	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	2.250000	0.43178	1.901000	0.55032	0.491000	0.48974	CGC	.		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		T	105350368	C	T	105350368	3	4	62	1	0	0	0	0	1	0	0	0	8193	768	27	1	1282	1	KIAA0284	14	105350368	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	177930	105350368	1999172	1058	13426											
KIAA0284	283638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105352726	105352726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctgcgggcccagagaGcagcaggaggagtgggcctg	18	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105352726G>A	ENST00000414716.3	+	12	2378	c.2150G>A	c.(2149-2151)aGc>aAc	p.S717N	CEP170B_ENST00000453495.1_Missense_Mutation_p.S718N|CEP170B_ENST00000556508.1_Missense_Mutation_p.S647N|CEP170B_ENST00000418279.1_Missense_Mutation_p.S647N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	717						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGCCCAGAGAGCAGCAGGAGG	0.706																																					p.S717N		.											.	.	0			c.G2150A						.						8	13	12					14																	105352726		2027	4148	6175	SO:0001583	missense	283638	exon12			CAGAGAGCAGCAG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2150G>A	14.37:g.105352726G>A	ENSP00000404151:p.Ser717Asn	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	185	72	NM_001112726	0	0	14	24	10	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	4.907	0.168475	0.09339	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.83	0.198	0.15168	.	0.736795	0.12500	N	0.463433	T	0.12646	0.0307	N	0.19112	0.55	0.09310	N	1	P;P;P	0.39282	0.666;0.475;0.61	B;B;B	0.37833	0.259;0.142;0.201	T	0.14504	-1.0470	10	0.49607	T	0.09	-2.5596	1.2778	0.02034	0.1433:0.3388:0.154:0.3639	.	717;717;647	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	N	647;717;718;647	ENSP00000451249:S647N;ENSP00000404151:S717N;ENSP00000407238:S718N;ENSP00000415006:S647N	ENSP00000404151:S717N	S	+	2	0	KIAA0284	104423771	0.001000	0.12720	0.005000	0.12908	0.029000	0.11900	-0.212000	0.09319	0.122000	0.18314	-0.311000	0.09066	AGC	.		0.706	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		A	105352726	G	A	105352726	3	1	62	1	0	0	0	0	1	0	0	0	8193	971	34	3	2192	3	KIAA0284	14	105352726	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2358	105352726	1996814	1059	13427											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105416057	105416057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttgaaactgggcaTatccaccttgggcaagtgcc	12	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105416057T>C	ENST00000333244.5	-	7	5850	c.5731A>G	c.(5731-5733)Atg>Gtg	p.M1911V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1911						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)			AAACTGGGCATATCCACCTTG	0.622																																					p.M1911V		.											.	AHNAK2-47	0			c.A5731G						.						122	133	130					14																	105416057		1855	4063	5918	SO:0001583	missense	113146	exon7			TGGGCATATCCAC	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.5731A>G	14.37:g.105416057T>C	ENSP00000353114:p.Met1911Val	Somatic	190	0		WXS	Illumina GAIIx	Phase_I	270	116	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	8.353	0.831428	0.16820	.	.	ENSG00000185567	ENST00000333244	T	0.01304	5.03	3.41	3.41	0.39046	.	.	.	.	.	T	0.03434	0.0099	M	0.82823	2.61	0.26782	N	0.969572	B	0.23891	0.093	B	0.28465	0.09	T	0.17745	-1.0359	9	0.27785	T	0.31	-28.5821	11.56	0.50772	0.0:0.0:0.0:1.0	.	1911	Q8IVF2	AHNK2_HUMAN	V	1911	ENSP00000353114:M1911V	ENSP00000353114:M1911V	M	-	1	0	AHNAK2	104487102	0.341000	0.24801	0.989000	0.46669	0.086000	0.17979	0.566000	0.23593	1.197000	0.43143	0.397000	0.26171	ATG	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416057	T	C	105416057	3	2	62	1	0	0	0	0	1	0	0	0	415	1406	49	4	11660	4	AHNAK2	14	105416057	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	63331	105416057	1933483	1060	13428											
TMEM121	80757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105995324	105995324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgggcgacgtgtgCttcctgctggtgctgcgcta	17	10	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105995324C>T	ENST00000392519.2	+	2	317	c.153C>T	c.(151-153)tgC>tgT	p.C51C	TMEM121_ENST00000431372.1_Silent_p.C51C	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	51						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCGACGTGTGCTTCCTGCTGG	0.652																																					p.C51C		.											.	TMEM121-90	0			c.C153T						.						122	105	111					14																	105995324		2203	4298	6501	SO:0001819	synonymous_variant	80757	exon2			CGTGTGCTTCCTG		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.153C>T	14.37:g.105995324C>T		Somatic	32	0		WXS	Illumina GAIIx	Phase_I	157	65	NM_025268	0	0	2	3	1		Silent	SNP	ENST00000392519.2	37	CCDS10006.1																																																																																			.		0.652	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		T	105995324	C	T	105995324	2	4	62	1	0	0	0	0	0	0	0	1	16082	805	28	3		3	TMEM121	14	105995324	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	579267	105995324	1354216	1061	13429											
OR4M2	390538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	22369302	22369302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggccatgtccacctgcTattcccacattaccattgtg	7	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:22369302T>C	ENST00000332663.2	+	1	825	c.727T>C	c.(727-729)Tat>Cat	p.Y243H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTCCACCTGCTATTCCCACAT	0.453																																					p.Y243H		.											.	OR4M2-69	0			c.T727C						.						269	193	218					15																	22369302		2203	4298	6501	SO:0001583	missense	390538	exon1			ACCTGCTATTCCC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.727T>C	15.37:g.22369302T>C	ENSP00000329467:p.Tyr243His	Somatic	430	0		WXS	Illumina GAIIx	Phase_I	488	72	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.151382	0.38021	.	.	ENSG00000182974	ENST00000332663	T	0.36878	1.23	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000398	T	0.36552	0.0971	L	0.27053	0.805	0.28100	N	0.931462	D	0.61697	0.99	D	0.63033	0.91	T	0.08994	-1.0695	10	0.72032	D	0.01	-11.7473	4.6129	0.12411	0.2859:0.0:0.0:0.7141	.	243	Q8NGB6	OR4M2_HUMAN	H	243	ENSP00000329467:Y243H	ENSP00000329467:Y243H	Y	+	1	0	OR4M2	19870666	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.364000	0.07583	1.068000	0.40764	0.368000	0.22195	TAT	.		0.453	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			C	22369302	T	C	22369302	3	2	62	1	0	0	0	0	1	0	0	0	11115	1522	53	4	729	4	OR4M2	15	22369302	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10		22369302	80162090	1062	13430											
TUBGCP5	114791	hgsc.bcm.edu;bcgsc.ca	37	chr15	22855112	22855113	+	Frame_Shift_Ins	INS	-	-	A													agaaaagacagaaaatgaagINSaaaaaatgagtgataacgct					rs564148291		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:22855112_22855113insA	ENST00000283645.4	+	13	1703_1704	c.1573_1574insA	c.(1573-1575)gaafs	p.E525fs	TUBGCP5_ENST00000453949.2_Frame_Shift_Ins_p.E525fs|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	525					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGAAAATGAAGAAAAAATGAGT	0.441																																					p.E525fs		.											.	TUBGCP5-91	0			c.1573_1574insA						.																																			SO:0001589	frameshift_variant	114791	exon13			AATGAAGAAAAAA	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1579dupA	15.37:g.22855118_22855118dupA	ENSP00000283645:p.Glu525fs	Somatic	298	2		WXS	Illumina GAIIx	Phase_I	361	156	NM_052903	0	0	0	0	0	E9PB12|Q6IQ52|Q96PY8	Frame_Shift_Ins	INS	ENST00000283645.4	37	CCDS10008.1																																																																																			.		0.441	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		A	22855113	-	A	22855112	7	5	62	1	0	1	1	0	0	0	0	0	16818	943	33	0	1623	0	TUBGCP5	15	22855112	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	485810	22855112	79676280	1063	13431											
C15orf2	23742	hgsc.bcm.edu	37	chr15	24921082	24921082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagggccagggcgtgGcgcccccgctcccctgtccc	13	21	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:24921082G>A	ENST00000329468.2	+	1	542	c.68G>A	c.(67-69)gGc>gAc	p.G23D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	23					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCAGGGCGTGGCGCCCCCGCT	0.687																																					p.G23D		.											.	.	0			c.G68A						.						5	8	7					15																	24921082		1804	3755	5559	SO:0001583	missense	23742	exon1			GGCGTGGCGCCCC	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.68G>A	15.37:g.24921082G>A	ENSP00000333735:p.Gly23Asp	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	48	25	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.526	0.869975	0.17322	.	.	ENSG00000185823	ENST00000329468	T	0.06068	3.35	2.42	-3.93	0.04143	.	.	.	.	.	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	B	0.28378	0.209	B	0.18561	0.022	T	0.39313	-0.9620	9	0.52906	T	0.07	.	0.5662	0.00687	0.3925:0.178:0.2496:0.1799	.	23	Q9NZP6	CO002_HUMAN	D	23	ENSP00000333735:G23D	ENSP00000333735:G23D	G	+	2	0	C15orf2	22472175	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	-1.056000	0.03205	-1.512000	0.00943	GGC	.		0.687	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921082	G	A	24921082	3	1	62	1	0	0	0	0	1	0	0	0	1789	1203	42	3	70	3	C15orf2	15	24921082	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2065970	24921082	77610310	1064	13432											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	28377252	28377252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgggaaataccttcatAggcactttacagccatcgct	8	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28377252A>G	ENST00000261609.7	-	81	12672	c.12564T>C	c.(12562-12564)ccT>ccC	p.P4188P		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)		ATACCTTCATAGGCACTTTAC	0.632																																					p.P4188P		.											.	HERC2-234	0			c.T12564C						.						56	50	52					15																	28377252		2202	4300	6502	SO:0001819	synonymous_variant	8924	exon81			CTTCATAGGCACT	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.12564T>C	15.37:g.28377252A>G		Somatic	252	0		WXS	Illumina GAIIx	Phase_I	257	114	NM_004667	0	0	0	0	0		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28377252	A	G	28377252	2	3	62	1	0	0	0	0	0	0	0	1	7085	407	15	4		4	HERC2	15	28377252	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3456170	28377252	74154140	1065	13433											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	28408358	28408358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacacgagtgtcatccGcaatcagcagactggtgaac	9	14	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28408358G>A	ENST00000261609.7	-	69	10736	c.10628C>T	c.(10627-10629)gCg>gTg	p.A3543V		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)		AGTGTCATCCGCAATCAGCAG	0.552																																					p.A3543V		.											.	HERC2-234	0			c.C10628T						.						126	111	116					15																	28408358		2203	4300	6503	SO:0001583	missense	8924	exon69			TCATCCGCAATCA	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.10628C>T	15.37:g.28408358G>A	ENSP00000261609:p.Ala3543Val	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	73	34	NM_004667	0	0	5	11	6		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339261	0.41398	.	.	ENSG00000128731	ENST00000261609	T	0.38240	1.15	5.05	1.98	0.26296	.	0.261816	0.36854	N	0.002367	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18587	-1.0332	10	0.54805	T	0.06	.	10.103	0.42517	0.227:0.0:0.773:0.0	.	3543	O95714	HERC2_HUMAN	V	3543	ENSP00000261609:A3543V	ENSP00000261609:A3543V	A	-	2	0	HERC2	26081953	1.000000	0.71417	0.000000	0.03702	0.681000	0.39784	5.661000	0.68025	0.191000	0.20236	0.655000	0.94253	GCG	.		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28408358	G	A	28408358	3	1	62	1	0	0	0	0	1	0	0	0	7085	1087	38	1	3976	1	HERC2	15	28408358	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	31106	28408358	74123034	1066	13434											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	28443647	28443647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacttggtggaggatAgcctacagatgtcaataaca	11	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28443647A>G	ENST00000261609.7	-	50	7996	c.7888T>C	c.(7888-7890)Tat>Cat	p.Y2630H		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)		GGTGGAGGATAGCCTACAGAT	0.378																																					p.Y2630H		.											.	HERC2-234	0			c.T7888C						.						56	59	58					15																	28443647		2203	4300	6503	SO:0001583	missense	8924	exon50			GAGGATAGCCTAC	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.7888T>C	15.37:g.28443647A>G	ENSP00000261609:p.Tyr2630His	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	127	55	NM_004667	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821035	0.50633	.	.	ENSG00000128731	ENST00000261609	T	0.37058	1.22	5.53	5.53	0.82687	CPH domain (1);	0.119868	0.56097	D	0.000035	T	0.28896	0.0717	N	0.03115	-0.41	0.41867	D	0.990252	P;P	0.48589	0.912;0.801	P;P	0.54629	0.757;0.678	T	0.24261	-1.0165	10	0.14656	T	0.56	.	15.6521	0.77104	1.0:0.0:0.0:0.0	.	97;2630	A8KAQ8;O95714	.;HERC2_HUMAN	H	2630	ENSP00000261609:Y2630H	ENSP00000261609:Y2630H	Y	-	1	0	HERC2	26117242	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	9.219000	0.95173	2.096000	0.63516	0.454000	0.30748	TAT	.		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28443647	A	G	28443647	3	3	62	1	0	0	0	0	1	0	0	0	7085	420	15	4	6792	4	HERC2	15	28443647	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	35289	28443647	74087745	1067	13435											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	28473416	28473416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgccggaattgagcagAaggtcgaggttgtttgcgcc	15	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28473416A>G	ENST00000261609.7	-	35	5520	c.5412T>C	c.(5410-5412)ctT>ctC	p.L1804L		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)		AATTGAGCAGAAGGTCGAGGT	0.607																																					p.L1804L		.											.	HERC2-234	0			c.T5412C						.						78	60	66					15																	28473416		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon35			GAGCAGAAGGTCG	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.5412T>C	15.37:g.28473416A>G		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	62	28	NM_004667	0	0	1	2	1		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28473416	A	G	28473416	2	3	62	1	0	0	0	0	0	0	0	1	7085	233	9	4		4	HERC2	15	28473416	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	29769	28473416	74057976	1068	13436											
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	29409295	29409295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccatgcccgccgccatgTtcaggctcctcacgggtcag	11	16	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:29409295T>C	ENST00000558402.1	+	16	2808	c.2209T>C	c.(2209-2211)Ttc>Ctc	p.F737L	APBA2_ENST00000558259.1_Missense_Mutation_p.F737L|APBA2_ENST00000411764.1_Missense_Mutation_p.F725L|APBA2_ENST00000561069.1_Missense_Mutation_p.F737L|APBA2_ENST00000558330.1_Missense_Mutation_p.F725L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	737					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGCCGCCATGTTCAGGCTCCT	0.662																																					p.F737L		.											.	APBA2-90	0			c.T2209C						.						72	67	69					15																	29409295		2203	4300	6503	SO:0001583	missense	321	exon14			GCCATGTTCAGGC	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2209T>C	15.37:g.29409295T>C	ENSP00000453293:p.Phe737Leu	Somatic	151	0		WXS	Illumina GAIIx	Phase_I	253	117	NM_005503	0	0	6	14	8	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	T	35	5.557613	0.96514	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.39229	1.09	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.061026	0.64402	D	0.000004	T	0.60625	0.2283	M	0.64404	1.975	0.80722	D	1	D;P	0.58268	0.982;0.877	D;P	0.67548	0.952;0.519	T	0.64457	-0.6403	10	0.87932	D	0	.	14.4052	0.67079	0.0:0.0:0.0:1.0	.	725;737	E9PGI4;Q99767	.;APBA2_HUMAN	L	725;737	ENSP00000409312:F725L	ENSP00000219865:F737L	F	+	1	0	APBA2	27196587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.842000	0.86851	1.991000	0.58162	0.528000	0.53228	TTC	.		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		C	29409295	T	C	29409295	3	2	62	1	0	0	0	0	1	0	0	0	757	1725	60	4	2255	4	APBA2	15	29409295	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	935879	29409295	73122097	1069	13437											
CHRFAM7A	89832	ucsc.edu;bcgsc.ca	37	chr15	30659681	30659681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactgcagcacgatcaccgtCaccaccaccgagaggcccac	8	18	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:30659681C>T	ENST00000299847.2	-	9	1113	c.660G>A	c.(658-660)gtG>gtA	p.V220V	CHRFAM7A_ENST00000401522.3_Silent_p.V129V|CHRFAM7A_ENST00000397827.3_Silent_p.V129V	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	220						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGATCACCGTCACCACCACCG	0.642																																					p.V220V		.											.	CHRFAM7A-45	0			c.G660A						.						167	135	146					15																	30659681		2191	4289	6480	SO:0001819	synonymous_variant	89832	exon9			CACCGTCACCACC	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.660G>A	15.37:g.30659681C>T		Somatic	1366	3		WXS	Illumina GAIIx	Phase_I	1852	385	NM_139320	0	0	2	2	0	A8KAB9	Silent	SNP	ENST00000299847.2	37	CCDS32184.1																																																																																			.		0.642	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		T	30659681	C	T	30659681	2	4	62	1	0	0	0	0	0	0	0	1	3382	813	29	3		3	CHRFAM7A	15	30659681	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1250386	30659681	71871711	1070	13438											
EIF2AK4	440275	hgsc.bcm.edu;bcgsc.ca	37	chr15	40326638	40326639	+	Frame_Shift_Ins	INS	-	-	A													aatttataacatcaaagtagINSaaaaaaagtaagttatcact							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:40326638_40326639insA	ENST00000263791.5	+	38	4928_4929	c.4885_4886insA	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Ins_p.E1601fs|SRP14_ENST00000558527.1_5'Flank	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1629					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CATCAAAGTAGAAAAAAAGTAA	0.396																																					p.E1629fs		.											.	EIF2AK4-757	0			c.4885_4886insA						.																																			SO:0001589	frameshift_variant	440275	exon38			AAAGTAGAAAAAA	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4892dupA	15.37:g.40326645_40326645dupA	ENSP00000263791:p.Glu1629fs	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	135	42	NM_001013703	0	0	0	0	0	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Ins	INS	ENST00000263791.5	37	CCDS42016.1																																																																																			.		0.396	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			A	40326639	-	A	40326638	7	5	62	1	0	1	1	0	0	0	0	0	5013	943	33	0	5035	0	EIF2AK4	15	40326638	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	9666957	40326638	62204754	1071	13439											
CASC5	57082	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	40914476	40914476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatagcaacaagccataatAtagtctactgtggtggagtt	10	6	1	1	rs73394756	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:40914476A>G	ENST00000346991.5	+	11	2482	c.2092A>G	c.(2092-2094)Ata>Gta	p.I698V	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.I672V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	698	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCCATAATATAGTCTACTG	0.348																																					p.I698V		.											.	CASC5-660	0			c.A2092G						.						74	73	73					15																	40914476		1815	4078	5893	SO:0001583	missense	57082	exon11			CATAATATAGTCT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2092A>G	15.37:g.40914476A>G	ENSP00000335463:p.Ile698Val	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	67	32	NM_170589	0	0	2	5	3	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.101403	0.00033	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.08102	3.13;3.13	3.88	1.53	0.23141	.	0.000000	0.40144	U	0.001171	T	0.05914	0.0154	L	0.33485	1.01	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.002;0.002;0.005	T	0.44997	-0.9291	10	0.13470	T	0.59	.	9.3642	0.38215	0.7568:0.0:0.2432:0.0	.	672;698;672	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	698;672;672	ENSP00000335463:I698V;ENSP00000382576:I672V	ENSP00000260369:I672V	I	+	1	0	CASC5	38701768	0.000000	0.05858	0.008000	0.14137	0.267000	0.26476	0.063000	0.14410	-0.145000	0.11294	-1.481000	0.00988	ATA	A|0.994;C|0.006		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		G	40914476	A	G	40914476	3	3	62	1	0	0	0	0	1	0	0	0	2670	449	16	4	2130	4	CASC5	15	40914476	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	587838	40914476	61616916	1072	13440											
VPS18	57617	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	41195414	41195415	+	Frame_Shift_Ins	INS	-	-	AG													gcccagccgggaacagctcaINSaggctgacctggatgagttg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:41195414_41195415insAG	ENST00000220509.5	+	5	3136_3137	c.2797_2798insAG	c.(2797-2799)aagfs	p.K933fs		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	933					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACAGCTCAAGGCTGACCTG	0.678																																					p.K933fs		.											.	VPS18-155	0			c.2797_2798insAG						.																																			SO:0001589	frameshift_variant	57617	exon5			CAGCTCAAGGCTG	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2798_2799dupAG	15.37:g.41195415_41195416dupAG	ENSP00000220509:p.Lys933fs	Somatic	32	0		WXS	Illumina GAIIx	Phase_I	62	20	NM_020857	0	0	0	0	0	Q8TCG0|Q96DI3|Q9H268	Frame_Shift_Ins	INS	ENST00000220509.5	37	CCDS10069.1																																																																																			.		0.678	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			AG	41195415	-	AG	41195414	7	5	62	1	0	1	1	0	0	0	0	0	17243	131	5	0	2815	0	VPS18	15	41195414	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	280938	41195414	61335978	1073	13441											
MGA	23269	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42059314	42059314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagagtctcaaggtgatgCcttgtttggcacctatagct	11	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42059314C>T	ENST00000570161.1	+	23	9034	c.9034C>T	c.(9034-9036)Cct>Tct	p.P3012S	MGA_ENST00000545763.1_Missense_Mutation_p.P2803S|MGA_ENST00000389936.4_Missense_Mutation_p.P2973S|MGA_ENST00000566586.1_Missense_Mutation_p.P2803S|MGA_ENST00000219905.7_Missense_Mutation_p.P3012S			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)			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)	CAAGGTGATGCCTTGTTTGGC	0.488																																					p.P3012S		.											.	MGA-522	0			c.C9034T						.						119	116	117					15																	42059314		1974	4166	6140	SO:0001583	missense	23269	exon24			GTGATGCCTTGTT	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.9034C>T	15.37:g.42059314C>T	ENSP00000457035:p.Pro3012Ser	Somatic	174	1		WXS	Illumina GAIIx	Phase_I	196	87	NM_001164273	0	0	5	12	7	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560235	0.65538	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.91792	-2.82;-2.78;-2.91	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000089	D	0.93700	0.7987	L	0.27053	0.805	0.36592	D	0.874139	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95254	0.8362	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2803;3012	F5H7K2;E7ENI0	.;.	S	3012;2973;2803	ENSP00000219905:P3012S;ENSP00000374586:P2973S;ENSP00000442467:P2803S	ENSP00000219905:P3012S	P	+	1	0	MGA	39846606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.759000	0.55227	2.941000	0.99782	0.655000	0.94253	CCT	.		0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42059314	C	T	42059314	3	4	62	1	0	0	0	0	1	0	0	0	9578	739	26	3	9124	3	MGA	15	42059314	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	863900	42059314	60472078	1074	13442											
SPTBN5	51332	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	42149686	42149686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgctccgccgcagacGcagggcctagggtagaaagt	13	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42149686G>A	ENST00000320955.6	-	51	8598	c.8371C>T	c.(8371-8373)Cgt>Tgt	p.R2791C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2791					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)		CGCCGCAGACGCAGGGCCTAG	0.672																																					p.R2756C		.											.	SPTBN5-91	0			c.C8266T						.						25	29	28					15																	42149686		2015	4172	6187	SO:0001583	missense	51332	exon51			GCAGACGCAGGGC	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.8371C>T	15.37:g.42149686G>A	ENSP00000317790:p.Arg2791Cys	Somatic	104	1		WXS	Illumina GAIIx	Phase_I	117	62	NM_016642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	5.617	0.298623	0.10622	.	.	ENSG00000137877	ENST00000320955	T	0.53640	0.61	4.2	-0.019	0.13961	.	0.389296	0.23062	N	0.052371	T	0.30198	0.0757	L	0.31294	0.92	0.31171	N	0.703215	B	0.17465	0.022	B	0.15484	0.013	T	0.14227	-1.0480	10	0.72032	D	0.01	.	5.8816	0.18858	0.1491:0.0:0.5842:0.2667	.	2791	Q9NRC6	SPTN5_HUMAN	C	2791	ENSP00000317790:R2791C	ENSP00000317790:R2791C	R	-	1	0	SPTBN5	39936978	0.712000	0.27916	0.011000	0.14972	0.050000	0.14768	1.075000	0.30716	-0.183000	0.10585	-1.510000	0.00946	CGT	.		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		A	42149686	G	A	42149686	3	1	62	1	0	0	0	0	1	0	0	0	15169	1087	38	1	2725	1	SPTBN5	15	42149686	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	90372	42149686	60381706	1075	13443											
LRRC57	255252	bcgsc.ca	37	chr15	42837435	42837435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaaggcgtggacagcaaGatatcttcactgagatctga	10	7	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42837435G>A	ENST00000323443.2	-	4	885	c.518C>T	c.(517-519)tCt>tTt	p.S173F	LRRC57_ENST00000397130.3_Missense_Mutation_p.S173F|LRRC57_ENST00000563454.1_Missense_Mutation_p.S173F			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	173						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TGGACAGCAAGATATCTTCAC	0.393																																					p.S173F		.											.	LRRC57-90	0			c.C518T						.						72	69	70					15																	42837435		2203	4299	6502	SO:0001583	missense	255252	exon5			CAGCAAGATATCT	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.518C>T	15.37:g.42837435G>A	ENSP00000326817:p.Ser173Phe	Somatic	35	1		WXS	Illumina GAIIx	Phase_I	49	25	NM_153260	0	0	16	32	16	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840297	0.91117	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.54675	0.56;0.56	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.75615	2.305	0.80722	D	1	D	0.62365	0.991	P	0.55161	0.77	T	0.73404	-0.3993	10	0.87932	D	0	.	19.0849	0.93200	0.0:0.0:1.0:0.0	.	173	Q8N9N7	LRC57_HUMAN	F	173	ENSP00000326817:S173F;ENSP00000380319:S173F	ENSP00000326817:S173F	S	-	2	0	LRRC57	40624727	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.255000	0.78338	2.520000	0.84964	0.557000	0.71058	TCT	.		0.393	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		A	42837435	G	A	42837435	3	1	62	1	0	0	0	0	1	0	0	0	9048	942	33	3	209	3	LRRC57	15	42837435	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	687749	42837435	59693957	1076	13444											
SPG11	80208	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	44918706	44918706	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgctggcaataacttcCtaggaaaagaaaaacgtttg	10	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:44918706C>T	ENST00000261866.7	-	11	2084		c.e11-1		SPG11_ENST00000559193.1_Splice_Site|SPG11_ENST00000535302.2_Splice_Site|SPG11_ENST00000558319.1_Splice_Site|SPG11_ENST00000427534.2_Splice_Site	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						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)		CAATAACTTCCTAGGAAAAGA	0.333																																					.		.											.	SPG11-95	0			c.2068-1G>A						.						74	77	76					15																	44918706		2198	4297	6495	SO:0001630	splice_region_variant	80208	exon12			AACTTCCTAGGAA		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.2068-1G>A	15.37:g.44918706C>T		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	46	22	NM_025137	0	0	0	0	0	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Splice_Site	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140241	0.77775	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0937	0.89481	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPG11	42705998	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.888000	0.69758	2.809000	0.96659	0.655000	0.94253	.	.		0.333	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		Intron	T	44918706	C	T	44918706	5	4	62	1	0	0	0	0	0	0	1	0	15088	695	24	3	5384	3	SPG11	15	44918706	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2081271	44918706	57612686	1077	13445											
SEMA6D	80031	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	48054484	48054484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatggatctgcccttcGcacaataaaatatgattcca	9	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48054484G>A	ENST00000316364.5	+	8	1065	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SEMA6D_ENST00000358066.4_Missense_Mutation_p.R209H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R209H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R209H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R209H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R209H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	209	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)		TCTGCCCTTCGCACAATAAAA	0.498																																					p.R209H		.											.	SEMA6D-138	0			c.G626A						.						119	105	110					15																	48054484		2198	4297	6495	SO:0001583	missense	80031	exon8			CCCTTCGCACAAT	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.626G>A	15.37:g.48054484G>A	ENSP00000324857:p.Arg209His	Somatic	85	1		WXS	Illumina GAIIx	Phase_I	83	23	NM_153617	0	0	0	0	0	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684151	0.96774	.	.	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	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	H	0.96208	3.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.999;1.0;0.998	T	0.68595	-0.5367	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	209;209;209;209;209	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	209	ENSP00000442040:R209H;ENSP00000446152:R209H;ENSP00000324857:R209H;ENSP00000374084:R209H;ENSP00000374083:R209H;ENSP00000346786:R209H;ENSP00000350770:R209H;ENSP00000374079:R209H;ENSP00000348276:R209H;ENSP00000374076:R209H	ENSP00000324857:R209H	R	+	2	0	SEMA6D	45841776	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	CGC	.		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48054484	G	A	48054484	3	1	62	1	0	0	0	0	1	0	0	0	14087	1087	38	1	652	1	SEMA6D	15	48054484	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3135778	48054484	54476908	1078	13446											
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	48764789	48764789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgggcacgaagcccatgTcgcattcacagcggtatcct	10	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48764789T>C	ENST00000316623.5	-	35	4750	c.4295A>G	c.(4294-4296)gAc>gGc	p.D1432G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1432	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAAGCCCATGTCGCATTCACA	0.522																																					p.D1432G		.											.	FBN1-92	0			c.A4295G						.						144	134	137					15																	48764789		2198	4296	6494	SO:0001583	missense	2200	exon35			CCCATGTCGCATT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4295A>G	15.37:g.48764789T>C	ENSP00000325527:p.Asp1432Gly	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	137	51	NM_000138	0	0	21	25	4	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845446	0.91197	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.87103	-2.21	5.81	5.81	0.92471	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	N	0.20328	0.56	0.80722	D	1	P	0.52170	0.951	P	0.54431	0.752	D	0.87707	0.2564	10	0.56958	D	0.05	.	15.8292	0.78739	0.0:0.0:0.0:1.0	.	1432	P35555	FBN1_HUMAN	G	1432;322	ENSP00000325527:D1432G	ENSP00000325527:D1432G	D	-	2	0	FBN1	46552081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.218000	0.71995	0.528000	0.53228	GAC	.		0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			C	48764789	T	C	48764789	3	2	62	1	0	0	0	0	1	0	0	0	5724	1667	58	4	4448	4	FBN1	15	48764789	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	710305	48764789	53766603	1079	13447											
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	48788314	48788314	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccttcacatgtttttagaTcaggtttgtagataaatccc	6	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48788314T>A	ENST00000316623.5	-	20	2857	c.2402A>T	c.(2401-2403)gAt>gTt	p.D801V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	801	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGTTTTTAGATCAGGTTTGTA	0.363																																					p.D801V		.											.	FBN1-92	0			c.A2402T						.						129	135	133					15																	48788314		2197	4296	6493	SO:0001583	missense	2200	exon20			TTTAGATCAGGTT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2402A>T	15.37:g.48788314T>A	ENSP00000325527:p.Asp801Val	Somatic	220	0		WXS	Illumina GAIIx	Phase_I	214	92	NM_000138	0	0	6	9	3	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530301	0.85706	.	.	ENSG00000166147	ENST00000316623	D	0.88124	-2.34	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.299133	0.40908	D	0.000998	D	0.88168	0.6364	M	0.64630	1.985	0.80722	D	1	B	0.31413	0.322	B	0.39185	0.293	D	0.87496	0.2430	10	0.66056	D	0.02	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	801	P35555	FBN1_HUMAN	V	801	ENSP00000325527:D801V	ENSP00000325527:D801V	D	-	2	0	FBN1	46575606	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAT	.		0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48788314	T	A	48788314	3	1	62	1	0	0	0	0	1	0	0	0	5724	1435	50	5	6401	5	FBN1	15	48788314	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	23525	48788314	53743078	1080	13448											
DTWD1	56986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	49926737	49926737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttctttgttttaggttgCactcatttttcctggacctc	6	9	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:49926737C>T	ENST00000251250.6	+	5	620	c.413C>T	c.(412-414)gCa>gTa	p.A138V	DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.A138V|DTWD1_ENST00000558653.1_Missense_Mutation_p.A138V|DTWD1_ENST00000415425.1_Missense_Mutation_p.A51V	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	138										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTTTAGGTTGCACTCATTTTT	0.289																																					p.A138V		.											.	DTWD1-226	0			c.C413T						.						42	46	44					15																	49926737		2195	4291	6486	SO:0001583	missense	56986	exon4			AGGTTGCACTCAT	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.413C>T	15.37:g.49926737C>T	ENSP00000251250:p.Ala138Val	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	131	49	NM_001144955	0	0	0	0	0	Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.103494	0.00356	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.16597	2.33;2.33	4.95	-2.31	0.06765	DTW (1);	0.332726	0.32015	N	0.006709	T	0.03520	0.0101	N	0.00507	-1.42	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.44952	-0.9294	9	.	.	.	-3.3314	11.1681	0.48556	0.0:0.4279:0.0:0.5721	.	51;138	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	V	138;138;51	ENSP00000385399:A138V;ENSP00000251250:A138V	.	A	+	2	0	DTWD1	47714029	0.594000	0.26849	0.098000	0.21074	0.002000	0.02628	0.952000	0.29149	-0.245000	0.09625	-0.140000	0.14226	GCA	.		0.289	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		T	49926737	C	T	49926737	3	4	62	1	0	0	0	0	1	0	0	0	4805	710	25	3	423	3	DTWD1	15	49926737	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1138423	49926737	52604655	1081	13449											
SPPL2A	84888	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	51014348	51014350	+	In_Frame_Del	DEL	AAG	AAG	-													agacgaaacatagtatatgtAagaagaaccagtctgaacat							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:51014348_51014350delAAG	ENST00000261854.5	-	13	1572_1574	c.1298_1300delCTT	c.(1297-1302)tcttac>tac	p.S433del	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	433					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TAGTATATGTAAGAAGAACCAGT	0.291																																					p.433_434del	Melanoma(50;790 1209 4069 22965 33125)	.											.	SPPL2A-90	0			c.1298_1300del						.																																			SO:0001651	inframe_deletion	84888	exon13			ATATGTAAGAAGA		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1298_1300delCTT	15.37:g.51014351_51014353delAAG	ENSP00000261854:p.Ser433del	Somatic	28	0		WXS	Illumina GAIIx	Phase_I	29	14	NM_032802	0	0	0	0	0	B2RDS0|Q8TAW1|Q96SZ8	In_Frame_Del	DEL	ENST00000261854.5	37	CCDS10138.1																																																																																			.		0.291	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		-	51014350	AAG	-	51014348	7	5	62	1	0	1	0	1	0	0	0	0	15135	362	13	0	274	0	SPPL2A	15	51014348	In_Frame_Del	DEL	AAG	TCGA-PK-A5HB-01A-11D-A29I-10	1087611	51014348	51517044	1082	13450											
CYP19A1	1588	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	51514616	51514616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgcagaagggtcaacacGtccacatagcccgattcatt	9	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:51514616G>A	ENST00000396402.1	-	5	711	c.558C>T	c.(556-558)gaC>gaT	p.D186D	CYP19A1_ENST00000405913.3_Silent_p.D186D|CYP19A1_ENST00000260433.2_Silent_p.D186D|CYP19A1_ENST00000396404.4_Silent_p.D186D|CYP19A1_ENST00000557858.1_Silent_p.D186D|CYP19A1_ENST00000559878.1_Silent_p.D186D|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	186					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|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)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GGGTCAACACGTCCACATAGC	0.517																																					p.D186D	Melanoma(142;1016 1807 39614 48966 51721)	.											.	CYP19A1-93	0			c.C558T						.						182	136	151					15																	51514616		2196	4293	6489	SO:0001819	synonymous_variant	1588	exon6			CAACACGTCCACA	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.558C>T	15.37:g.51514616G>A		Somatic	327	2		WXS	Illumina GAIIx	Phase_I	383	206	NM_031226	0	0	6	9	3	Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	ENST00000396402.1	37	CCDS10139.1																																																																																			.		0.517	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			A	51514616	G	A	51514616	2	1	62	1	0	0	0	0	0	0	0	1	4157	1136	40	1		1	CYP19A1	15	51514616	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	500268	51514616	51016776	1083	13451											
DYX1C1	161582	ucsc.edu;bcgsc.ca	37	chr15	55790437	55790437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtgcagaacacgtccgTgtctctgacgcacacgcctt	9	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:55790437T>C	ENST00000321149.3	-	2	458	c.91A>G	c.(91-93)Acg>Gcg	p.T31A	DYX1C1_ENST00000348518.3_Missense_Mutation_p.T31A|DYX1C1_ENST00000380679.1_Missense_Mutation_p.T31A|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.T31A|DYX1C1_ENST00000448430.2_Missense_Mutation_p.T31A	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	31	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AACACGTCCGTGTCTCTGACG	0.562																																					p.T31A		.											.	DYX1C1-91	0			c.A91G						.						47	44	45					15																	55790437		2193	4292	6485	SO:0001583	missense	161582	exon2			CGTCCGTGTCTCT		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.91A>G	15.37:g.55790437T>C	ENSP00000323275:p.Thr31Ala	Somatic	175	3		WXS	Illumina GAIIx	Phase_I	227	99	NM_001033560	0	0	1	3	2	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330829	0.41297	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	4.82	1.4	0.22301	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.647156	0.13570	N	0.378125	T	0.01870	0.0059	N	0.00128	-2.045	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.43925	-0.9361	10	0.02654	T	1	-0.142	4.1087	0.10049	0.2913:0.5083:0.0:0.2004	.	31;31;31	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	A	31	ENSP00000403412:T31A;ENSP00000370054:T31A;ENSP00000402640:T31A;ENSP00000323275:T31A;ENSP00000299561:T31A	ENSP00000323275:T31A	T	-	1	0	DYX1C1	53577729	0.105000	0.21958	0.402000	0.26371	0.980000	0.70556	1.135000	0.31454	0.484000	0.27630	-0.408000	0.06270	ACG	.		0.562	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		C	55790437	T	C	55790437	3	2	62	1	0	0	0	0	1	0	0	0	4876	1696	59	4	1310	4	DYX1C1	15	55790437	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	4275821	55790437	46740955	1084	13452											
PRTG	283659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	56032850	56032850	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttacatcctgtggttcttTtacaaaagacagttcgctaa	7	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:56032850T>A	ENST00000561292.1	-	2	285	c.127A>T	c.(127-129)Aaa>Taa	p.K43*	PRTG_ENST00000389286.4_Nonsense_Mutation_p.K43*					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTGGTTCTTTTACAAAAGAC	0.408																																					p.K43X		.											.	PRTG-92	0			c.A127T						.						66	63	64					15																	56032850		1834	4090	5924	SO:0001587	stop_gained	283659	exon2			GTTCTTTTACAAA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.127A>T	15.37:g.56032850T>A	ENSP00000453335:p.Lys43*	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	76	39	NM_173814	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000561292.1	37		.	.	.	.	.	.	.	.	.	.	T	25.3	4.623486	0.87460	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.82	3.48	0.39840	.	0.076236	0.49916	U	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7938	7.7667	0.28984	0.0:0.0729:0.1397:0.7874	.	.	.	.	X	43	.	ENSP00000373937:K43X	K	-	1	0	PRTG	53820142	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.816000	0.55658	0.441000	0.26529	0.533000	0.62120	AAA	.		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		A	56032850	T	A	56032850	4	1	62	1	0	0	0	0	0	1	0	0	12680	1850	64	5	3401	5	PRTG	15	56032850	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	242413	56032850	46498542	1085	13453											
RORA	6095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	60803784	60803785	+	Frame_Shift_Del	DEL	TC	TC	-													gtacttctgcatacaagctgTctctctgcttttttgacatt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:60803784_60803785delTC	ENST00000335670.6	-	5	560_561	c.460_461delGA	c.(460-462)gacfs	p.D154fs	RORA_ENST00000261523.5_Frame_Shift_Del_p.D187fs|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Frame_Shift_Del_p.D179fs|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Frame_Shift_Del_p.D99fs|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	154	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATACAAGCTGTCTCTCTGCTTT	0.5																																					p.187_187del		.											.	RORA-290	0			c.559_560del						.																																			SO:0001589	frameshift_variant	6095	exon6			AAGCTGTCTCTCT	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.460_461delGA	15.37:g.60803788_60803789delTC	ENSP00000335087:p.Asp154fs	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	191	75	NM_134260	0	0	0	0	0	P35397|P35399|P45445|Q495X4|Q96H83	Frame_Shift_Del	DEL	ENST00000335670.6	37	CCDS10177.1																																																																																			.		0.5	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			-	60803785	TC	-	60803784	7	5	62	1	0	1	0	1	0	0	0	0	13573	1667	58	0	1138	0	RORA	15	60803784	Frame_Shift_Del	DEL	TC	TCGA-PK-A5HB-01A-11D-A29I-10	4770934	60803784	41727608	1086	13454											
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63097938	63097938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgtgattgctactgCcaacctgagccggaaagccg	14	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63097938C>T	ENST00000561311.1	+	50	6847	c.6617C>T	c.(6616-6618)gCc>gTc	p.A2206V	TLN2_ENST00000306829.6_Missense_Mutation_p.A2206V			Q9Y4G6	TLN2_HUMAN	talin 2	2206					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						ATTGCTACTGCCAACCTGAGC	0.517																																					p.A2206V		.											.	TLN2-573	0			c.C6617T						.						91	77	82					15																	63097938		2203	4300	6503	SO:0001583	missense	83660	exon48			CTACTGCCAACCT	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.6617C>T	15.37:g.63097938C>T	ENSP00000453508:p.Ala2206Val	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	178	90	NM_015059	0	0	4	6	2	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615670	0.96649	.	.	ENSG00000171914	ENST00000306829	T	0.71817	-0.6	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87033	0.2136	10	0.52906	T	0.07	-17.5271	20.1184	0.97949	0.0:1.0:0.0:0.0	.	2206	Q9Y4G6	TLN2_HUMAN	V	2206	ENSP00000303476:A2206V	ENSP00000303476:A2206V	A	+	2	0	TLN2	60884991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.776000	0.85560	2.769000	0.95229	0.655000	0.94253	GCC	.		0.517	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63097938	C	T	63097938	3	4	62	1	0	0	0	0	1	0	0	0	15995	739	26	3	6807	3	TLN2	15	63097938	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2294154	63097938	39433454	1087	13455											
FBXL22	283807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	63893575	63893575	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcgccgttggaccgaaatCacctcggtggggaggacctg	15	11	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63893575C>T	ENST00000360587.2	+	2	474	c.434C>T	c.(433-435)tCa>tTa	p.S145L	FBXL22_ENST00000539570.3_Missense_Mutation_p.S139L|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000561256.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	145					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						GGACCGAAATCACCTCGGTGG	0.721																																					p.S145L		.											.	FBXL22-90	0			c.C434T						.						21	24	23					15																	63893575		2190	4263	6453	SO:0001583	missense	283807	exon2			CGAAATCACCTCG	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.434C>T	15.37:g.63893575C>T	ENSP00000353794:p.Ser145Leu	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	51	26	NM_203373	0	0	0	0	0		Missense_Mutation	SNP	ENST00000360587.2	37	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	c	16.09	3.024782	0.54683	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.52983	0.64;0.65	1.85	-3.7	0.04437	.	0.229124	0.46145	D	0.000308	T	0.28665	0.0710	L	0.36672	1.1	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.04320	-1.0960	10	0.49607	T	0.09	-14.9683	4.9702	0.14111	0.0:0.1601:0.5506:0.2893	.	139	Q6P050	FXL22_HUMAN	L	145;139	ENSP00000353794:S145L;ENSP00000442112:S139L	ENSP00000353794:S145L	S	+	2	0	FBXL22	61680628	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.154000	0.03166	-1.616000	0.01572	0.298000	0.19748	TCA	.		0.721	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		T	63893575	C	T	63893575	3	4	62	1	0	0	0	0	1	0	0	0	5741	838	29	3	422	3	FBXL22	15	63893575	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	795637	63893575	38637817	1088	13456											
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63916523	63916523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcattataatgggatgtgcTgttctgtaacagaaggtacg	12	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63916523T>C	ENST00000443617.2	-	72	13366	c.13279A>G	c.(13279-13281)Agc>Ggc	p.S4427G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					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						TGGGATGTGCTGTTCTGTAAC	0.428																																					p.S4427G		.											.	HERC1-666	0			c.A13279G						.						123	112	116					15																	63916523		1885	4126	6011	SO:0001583	missense	8925	exon72			ATGTGCTGTTCTG	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.13279A>G	15.37:g.63916523T>C	ENSP00000390158:p.Ser4427Gly	Somatic	105	0		WXS	Illumina GAIIx	Phase_I	116	44	NM_003922	0	0	1	1	0	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249043	0.39797	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.19005	0.0456	N	0.22421	0.69	0.45330	D	0.99832	B	0.26002	0.139	B	0.19946	0.027	T	0.03473	-1.1033	10	0.34782	T	0.22	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	4427	Q15751	HERC1_HUMAN	G	4427	ENSP00000390158:S4427G	ENSP00000390158:S4427G	S	-	1	0	HERC1	61703576	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	5.806000	0.69150	2.113000	0.64589	0.533000	0.62120	AGC	.		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	63916523	T	C	63916523	3	2	62	1	0	0	0	0	1	0	0	0	7084	1580	55	4	1334	4	HERC1	15	63916523	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	22948	63916523	38614869	1089	13457											
CILP	8483	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	65489585	65489585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggtcctgatcatagagCatcccactgcacttgaactc	7	14	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:65489585C>T	ENST00000261883.4	-	9	3205	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1013					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						GATCATAGAGCATCCCACTGC	0.597																																					p.M1013I		.											.	CILP-97	0			c.G3039A						.						93	69	77					15																	65489585		2202	4299	6501	SO:0001583	missense	8483	exon9			ATAGAGCATCCCA	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.3039G>A	15.37:g.65489585C>T	ENSP00000261883:p.Met1013Ile	Somatic	182	1		WXS	Illumina GAIIx	Phase_I	212	94	NM_003613	0	0	2	2	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782867	0.70222	.	.	ENSG00000138615	ENST00000261883	T	0.10192	2.9	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.04855	-1.0922	10	0.56958	D	0.05	-27.7185	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1013	O75339	CILP1_HUMAN	I	1013	ENSP00000261883:M1013I	ENSP00000261883:M1013I	M	-	3	0	CILP	63276638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	ATG	.		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65489585	C	T	65489585	3	4	62	1	0	0	0	0	1	0	0	0	3436	710	25	3	519	3	CILP	15	65489585	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1573062	65489585	37041807	1090	13458											
CILP	8483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	65489631	65489631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctgagacattgggcTggtccctgtcccgagtgctc	14	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:65489631T>G	ENST00000261883.4	-	9	3159	c.2993A>C	c.(2992-2994)cAg>cCg	p.Q998P		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	998					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						GACATTGGGCTGGTCCCTGTC	0.592																																					p.Q998P		.											.	CILP-97	0			c.A2993C						.						80	65	70					15																	65489631		2202	4299	6501	SO:0001583	missense	8483	exon9			TTGGGCTGGTCCC	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.2993A>C	15.37:g.65489631T>G	ENSP00000261883:p.Gln998Pro	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	186	71	NM_003613	0	0	1	1	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922579	0.33908	.	.	ENSG00000138615	ENST00000261883	T	0.10099	2.91	5.54	4.43	0.53597	.	0.299613	0.37348	N	0.002138	T	0.13200	0.0320	L	0.44542	1.39	0.45648	D	0.998574	P	0.52842	0.956	P	0.48454	0.578	T	0.02774	-1.1112	10	0.33940	T	0.23	-27.4069	10.1594	0.42842	0.0:0.0777:0.0:0.9223	.	998	O75339	CILP1_HUMAN	P	998	ENSP00000261883:Q998P	ENSP00000261883:Q998P	Q	-	2	0	CILP	63276684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.175000	0.42491	2.108000	0.64289	0.533000	0.62120	CAG	.		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		G	65489631	T	G	65489631	3	3	62	1	0	0	0	0	1	0	0	0	3436	1580	55	5	565	5	CILP	15	65489631	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	46	65489631	37041761	1091	13459											
NOX5	79400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	69331288	69331288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccattgctcgctatgAgtggcaccccttcaccatca	6	18	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:69331288A>G	ENST00000388866.3	+	9	1504	c.1463A>G	c.(1462-1464)gAg>gGg	p.E488G	NOX5_ENST00000530406.2_Missense_Mutation_p.E460G|NOX5_ENST00000448182.3_Missense_Mutation_p.E442G|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.E453G|NOX5_ENST00000260364.5_Missense_Mutation_p.E470G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	488	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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						GCTCGCTATGAGTGGCACCCC	0.522																																					p.E488G		.											.	NOX5-136	0			c.A1463G						.						241	218	226					15																	69331288		2200	4298	6498	SO:0001583	missense	79400	exon9			GCTATGAGTGGCA	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.1463A>G	15.37:g.69331288A>G	ENSP00000373518:p.Glu488Gly	Somatic	119	0		WXS	Illumina GAIIx	Phase_I	163	80	NM_024505	0	0	0	0	0	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735293	0.48939	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.92965	-3.14;-3.14;-3.14	3.43	3.43	0.39272	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	0.96275	0.8785	M	0.91872	3.25	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	0.96238	0.9173	10	0.87932	D	0	-12.3849	10.7243	0.46059	1.0:0.0:0.0:0.0	.	453;488;460	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	G	453;470;488;460	ENSP00000416828:E453G;ENSP00000373518:E488G;ENSP00000432440:E460G	ENSP00000373518:E488G	E	+	2	0	NOX5	67118342	1.000000	0.71417	0.918000	0.36340	0.168000	0.22595	7.344000	0.79328	1.212000	0.43366	0.260000	0.18958	GAG	.		0.522	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		G	69331288	A	G	69331288	3	3	62	1	0	0	0	0	1	0	0	0	10598	304	11	4	1530	4	NOX5	15	69331288	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3841657	69331288	33200104	1092	13460											
BBS4	585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	73029922	73029922	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatcagaacaaataagagaGaaataagaatagaatgaatg	8	3	1	6			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:73029922G>C	ENST00000268057.4	+	16	1595	c.1554G>C	c.(1552-1554)gaG>gaC	p.E518D	BBS4_ENST00000542334.1_Missense_Mutation_p.E346D|BBS4_ENST00000395205.2_Missense_Mutation_p.E526D|BBS4_ENST00000539603.1_Missense_Mutation_p.E506D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	518	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AAATAAGAGAGAAATAAGAAT	0.483									Bardet-Biedl syndrome																												p.E518D		.											.	BBS4-90	0			c.G1554C						.						47	44	45					15																	73029922		2198	4297	6495	SO:0001583	missense	585	exon16	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAGAGAGAAATAA	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1554G>C	15.37:g.73029922G>C	ENSP00000268057:p.Glu518Asp	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	59	24	NM_033028	0	0	9	20	11	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039953	0.75732	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.75938	-0.82;-0.96;-0.95;-0.98	5.03	1.19	0.21007	.	0.779645	0.12084	N	0.501015	T	0.64800	0.2631	L	0.51422	1.61	0.26476	N	0.975189	P;B;B	0.35872	0.525;0.341;0.003	B;B;B	0.36092	0.217;0.167;0.003	T	0.57763	-0.7755	10	0.62326	D	0.03	-11.579	4.8162	0.13367	0.6557:0.1587:0.1856:0.0	.	506;526;518	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	D	346;518;506;526	ENSP00000445964:E346D;ENSP00000268057:E518D;ENSP00000442492:E506D;ENSP00000378631:E526D	ENSP00000268057:E518D	E	+	3	2	BBS4	70816975	0.003000	0.15002	0.979000	0.43373	0.615000	0.37417	-0.701000	0.05075	0.353000	0.24079	-0.367000	0.07326	GAG	.		0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		C	73029922	G	C	73029922	3	2	62	1	0	0	0	0	1	0	0	0	1340	933	33	3	1616	3	BBS4	15	73029922	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3698634	73029922	29501470	1093	13461											
STRA6	64220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74487774	74487774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagagggtagtagagggCagcataatagaacagtccca	13	8	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:74487774C>T	ENST00000323940.5	-	7	711	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	STRA6_ENST00000416286.3_Missense_Mutation_p.A148T|STRA6_ENST00000449139.2_Missense_Mutation_p.A156T|STRA6_ENST00000423167.2_Missense_Mutation_p.A147T|STRA6_ENST00000563965.1_Missense_Mutation_p.A195T|STRA6_ENST00000574278.1_Missense_Mutation_p.A171T|STRA6_ENST00000395105.4_Missense_Mutation_p.A156T|STRA6_ENST00000535552.1_Missense_Mutation_p.A193T|STRA6_ENST00000432245.2_3'UTR|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	156					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAGTAGAGGGCAGCATAATAG	0.627																																					p.A195T		.											.	STRA6-90	0			c.G583A						.						40	46	44					15																	74487774		2198	4297	6495	SO:0001583	missense	64220	exon7			AGAGGGCAGCATA	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.466G>A	15.37:g.74487774C>T	ENSP00000326085:p.Ala156Thr	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	101	35	NM_001199042	0	0	6	6	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143398	0.57044	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.23	4.28	0.50868	.	0.053759	0.85682	D	0.000000	D	0.88149	0.6359	M	0.74258	2.255	0.53005	D	0.999969	D;D;D;D;D	0.63046	0.992;0.992;0.992;0.992;0.992	P;P;P;P;P	0.59357	0.856;0.856;0.856;0.856;0.856	D	0.86599	0.1865	10	0.30854	T	0.27	-14.0218	13.4254	0.61022	0.0:0.8422:0.1578:0.0	.	193;194;147;156;195	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;STRA6_HUMAN;.	T	156;156;88;195;147;193;46	ENSP00000378537:A156T;ENSP00000326085:A156T;ENSP00000413012:A147T;ENSP00000440238:A193T	ENSP00000326085:A156T	A	-	1	0	STRA6	72274827	0.006000	0.16342	0.744000	0.31058	0.145000	0.21501	1.280000	0.33202	1.148000	0.42385	0.563000	0.77884	GCC	.		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			T	74487774	C	T	74487774	3	4	62	1	0	0	0	0	1	0	0	0	15369	710	25	3	1589	3	STRA6	15	74487774	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1457852	74487774	28043618	1094	13462											
C15orf39	56905	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	75498952	75498952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggccagactctggatgGcaccttcttgcggggggtgc	16	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75498952G>A	ENST00000360639.2	+	2	883	c.563G>A	c.(562-564)gGc>gAc	p.G188D	C15orf39_ENST00000567617.1_Missense_Mutation_p.G188D|C15orf39_ENST00000394987.4_Missense_Mutation_p.G188D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	188						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCTGGATGGCACCTTCTTG	0.617																																					p.G188D		.											.	C15orf39-90	0			c.G563A						.						43	47	46					15																	75498952		2196	4294	6490	SO:0001583	missense	56905	exon2			TGGATGGCACCTT	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.563G>A	15.37:g.75498952G>A	ENSP00000353854:p.Gly188Asp	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	65	7	NM_015492	0	0	68	72	4	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091586	0.36952	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.09	0.475	0.16774	.	0.294510	0.24594	N	0.037193	T	0.54208	0.1844	L	0.57536	1.79	0.20196	N	0.99993	B	0.16802	0.019	B	0.19946	0.027	T	0.54529	-0.8280	10	0.62326	D	0.03	-10.7338	9.3761	0.38283	0.0911:0.403:0.5059:0.0	.	188	Q6ZRI6	CO039_HUMAN	D	188	ENSP00000353854:G188D;ENSP00000378438:G188D	ENSP00000353854:G188D	G	+	2	0	C15orf39	73286005	0.003000	0.15002	0.434000	0.26772	0.888000	0.51559	0.634000	0.24614	0.505000	0.28104	0.556000	0.70494	GGC	.		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75498952	G	A	75498952	3	1	62	1	0	0	0	0	1	0	0	0	1798	1203	42	3	565	3	C15orf39	15	75498952	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1011178	75498952	27032440	1095	13463											
C15orf39	56905	bcgsc.ca	37	chr15	75499374	75499374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctacctgaggcagcagGcagcccaggcaccttacatt	10	16	0	1	rs111653297	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75499374G>A	ENST00000360639.2	+	2	1305	c.985G>A	c.(985-987)Gca>Aca	p.A329T	C15orf39_ENST00000567617.1_Missense_Mutation_p.A329T|C15orf39_ENST00000394987.4_Missense_Mutation_p.A329T			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	329						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GAGGCAGCAGGCAGCCCAGGC	0.697																																					p.A329T		.											.	C15orf39-90	0			c.G985A						.						33	36	35					15																	75499374		2197	4294	6491	SO:0001583	missense	56905	exon2			CAGCAGGCAGCCC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.985G>A	15.37:g.75499374G>A	ENSP00000353854:p.Ala329Thr	Somatic	112	3		WXS	Illumina GAIIx	Phase_I	147	58	NM_015492	0	0	13	28	15	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736550	0.30774	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.66638	-0.22;-0.22	4.74	2.46	0.29980	.	0.513863	0.17921	N	0.157481	T	0.54967	0.1891	L	0.48362	1.52	0.30360	N	0.783888	B	0.21753	0.06	B	0.17722	0.019	T	0.54728	-0.8250	10	0.44086	T	0.13	-4.7278	7.4476	0.27219	0.2398:0.0:0.7602:0.0	.	329	Q6ZRI6	CO039_HUMAN	T	329	ENSP00000353854:A329T;ENSP00000378438:A329T	ENSP00000353854:A329T	A	+	1	0	C15orf39	73286427	0.069000	0.21087	0.995000	0.50966	0.903000	0.53119	0.510000	0.22723	0.988000	0.38734	0.462000	0.41574	GCA	G|0.500;A|0.500		0.697	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		A	75499374	G	A	75499374	3	1	62	1	0	0	0	0	1	0	0	0	1798	1203	42	3	987	3	C15orf39	15	75499374	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	422	75499374	27032018	1096	13464											
GOLGA6D	653643	hgsc.bcm.edu;broad.mit.edu	37	chr15	75586567	75586567	+	Frame_Shift_Del	DEL	C	C	-													gcccactccaggggccccagCcccccaggaacttggggctg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75586567delC	ENST00000434739.3	+	17	1960	c.1919delC	c.(1918-1920)gccfs	p.A640fs	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	640						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GGGGCCCCAGCCCCCCAGGAA	0.652																																					p.A640fs		.											.	.	0			c.1919delC						.						1	1	1					15																	75586567		227	740	967	SO:0001589	frameshift_variant	653643	exon17			CCCCAGCCCCCCA		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1919delC	15.37:g.75586567delC	ENSP00000391085:p.Ala640fs	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	223	36	NM_001145224	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000434739.3	37	CCDS45308.1																																																																																			.		0.652	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		-	75586567	C	-	75586567	7	5	62	1	0	1	0	1	0	0	0	0	6586	739	26	0	1985	0	GOLGA6D	15	75586567	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	87193	75586567	26944825	1097	13465											
CSPG4	1464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75979767	75979767	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggccctgcttccacggaGaaggccatggtgtcgcgggg	16	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75979767G>A	ENST00000308508.5	-	3	3731	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1213	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTTCCACGGAGAAGGCCATGG	0.632																																					p.F1213F		.											.	CSPG4-229	0			c.C3639T						.						57	56	57					15																	75979767		2195	4294	6489	SO:0001819	synonymous_variant	1464	exon3			CACGGAGAAGGCC	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.3639C>T	15.37:g.75979767G>A		Somatic	130	0		WXS	Illumina GAIIx	Phase_I	234	109	NM_001897	0	0	0	0	0	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			.		0.632	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75979767	G	A	75979767	2	1	62	1	0	0	0	0	0	0	0	1	3969	933	33	3		3	CSPG4	15	75979767	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	393200	75979767	26551625	1098	13466											
PSMA4	5685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	78838004	78838004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttggtgtttcattgctGtacattggctgggataagca	11	8	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:78838004G>A	ENST00000044462.7	+	7	555	c.405G>A	c.(403-405)ctG>ctA	p.L135L	PSMA4_ENST00000558094.1_Silent_p.L47L|PSMA4_ENST00000558281.1_Silent_p.L135L|PSMA4_ENST00000413382.2_Silent_p.L64L|PSMA4_ENST00000560217.1_Silent_p.L104L|PSMA4_ENST00000559082.1_Silent_p.L135L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Intron	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	135					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCATTGCTGTACATTGGCT	0.398																																					p.L135L		.											.	PSMA4-90	0			c.G405A						.						214	212	212					15																	78838004		2196	4293	6489	SO:0001819	synonymous_variant	5685	exon7			ATTGCTGTACATT	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.405G>A	15.37:g.78838004G>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	124	57	NM_001102667	0	0	108	230	122	D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	37	CCDS10303.1																																																																																			.		0.398	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		A	78838004	G	A	78838004	2	1	62	1	0	0	0	0	0	0	0	1	12711	1364	48	3		3	PSMA4	15	78838004	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2858237	78838004	23693388	1099	13467											
TMC3	342125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	81660598	81660598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttctgtattacctctGcacctgctgcttggtagcct	10	11	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:81660598G>A	ENST00000359440.5	-	3	443	c.308C>T	c.(307-309)gCa>gTa	p.A103V	TMC3_ENST00000558726.1_Missense_Mutation_p.A103V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TATTACCTCTGCACCTGCTGC	0.527																																					p.A103V		.											.	TMC3-70	0			c.C308T						.						161	162	162					15																	81660598		2022	4180	6202	SO:0001583	missense	342125	exon3			ACCTCTGCACCTG	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.308C>T	15.37:g.81660598G>A	ENSP00000352413:p.Ala103Val	Somatic	88	0		WXS	Illumina GAIIx	Phase_I	97	35	NM_001080532	0	0	0	0	0		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592042	0.66219	.	.	ENSG00000188869	ENST00000359440	T	0.65732	-0.17	5.65	3.7	0.42460	.	0.074115	0.52532	D	0.000068	T	0.53012	0.1770	L	0.45352	1.415	0.47374	D	0.999409	B;B	0.19445	0.004;0.036	B;B	0.19391	0.009;0.025	T	0.53542	-0.8424	10	0.51188	T	0.08	-14.7875	11.3447	0.49554	0.0689:0.1259:0.8052:0.0	.	103;103	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	103	ENSP00000352413:A103V	ENSP00000352413:A103V	A	-	2	0	TMC3	79447653	1.000000	0.71417	0.898000	0.35279	0.956000	0.61745	6.529000	0.73812	1.325000	0.45301	0.655000	0.94253	GCA	.		0.527	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81660598	G	A	81660598	3	1	62	1	0	0	0	0	1	0	0	0	16033	1319	46	3	3074	3	TMC3	15	81660598	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2822594	81660598	20870794	1100	13468											
EFTUD1	79631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	82512116	82512116	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttggttgttttcttcctgGagcacaggtttaggggtcat	12	7	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:82512116G>T	ENST00000268206.7	-	14	1656	c.1488C>A	c.(1486-1488)ctC>ctA	p.L496L	EFTUD1_ENST00000359445.3_Silent_p.L445L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	496					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTCTTCCTGGAGCACAGGTT	0.428																																					p.L496L		.											.	EFTUD1-91	0			c.C1488A						.						70	64	66					15																	82512116		1832	4088	5920	SO:0001819	synonymous_variant	79631	exon14			TTCCTGGAGCACA	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1488C>A	15.37:g.82512116G>T		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	130	49	NM_024580	0	0	13	20	7	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																			.		0.428	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		T	82512116	G	T	82512116	2	4	62	1	0	0	0	0	0	0	0	1	4974	1161	41	3		3	EFTUD1	15	82512116	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	851518	82512116	20019276	1101	13469											
ALPK3	57538	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	85401392	85401392	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggagccctcccaagaggaGaagttcccaggggaggctct	14	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:85401392G>A	ENST00000258888.5	+	6	4196	c.4029G>A	c.(4027-4029)gaG>gaA	p.E1343E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1343					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)			CCCAAGAGGAGAAGTTCCCAG	0.647																																					p.E1343E		.											.	ALPK3-337	0			c.G4029A						.						15	19	18					15																	85401392		2191	4297	6488	SO:0001819	synonymous_variant	57538	exon6			AGAGGAGAAGTTC	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.4029G>A	15.37:g.85401392G>A		Somatic	81	1		WXS	Illumina GAIIx	Phase_I	110	47	NM_020778	0	0	0	1	1	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																			.		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85401392	G	A	85401392	2	1	62	1	0	0	0	0	0	0	0	1	546	933	33	3		3	ALPK3	15	85401392	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2889276	85401392	17130000	1102	13470											
AKAP13	11214	hgsc.bcm.edu;bcgsc.ca	37	chr15	86287016	86287017	+	Frame_Shift_Ins	INS	-	-	A													agccaaaggaaaagaaggagINSaaaaaaaagaagaacaaaac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:86287016_86287017insA	ENST00000394518.2	+	36	8447_8448	c.8352_8353insA	c.(8353-8355)aaafs	p.K2785fs	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.K2789fs|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.K1030fs|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2785	Interaction with ESR1.|Poly-Lys.				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						AAAAGAAGGAGAAAAAAAAGAA	0.545																																					p.E2788fs	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.8364_8365insA						.																																			SO:0001589	frameshift_variant	11214	exon36			GAAGGAGAAAAAA	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.8360dupA	15.37:g.86287024_86287024dupA	ENSP00000378026:p.Lys2785fs	Somatic	57	0		WXS	Illumina GAIIx	Phase_I	82	32	NM_006738	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	CCDS32319.1																																																																																			.		0.545	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		A	86287017	-	A	86287016	7	5	62	1	0	1	1	0	0	0	0	0	449	933	33	0	8560	0	AKAP13	15	86287016	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	885624	86287016	16244376	1103	13471											
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86810268	86810268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacggttcttctccaaatTtgagtcaggaaatcttcgca	7	9	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:86810268T>C	ENST00000441037.2	+	12	1756	c.1661T>C	c.(1660-1662)tTt>tCt	p.F554S	AGBL1_ENST00000389298.3_Missense_Mutation_p.F285S|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	554					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTCCAAATTTGAGTCAGGA	0.408																																					p.F554S		.											.	.	0			c.T1661C						.						89	81	83					15																	86810268		1910	4116	6026	SO:0001583	missense	123624	exon12			CCAAATTTGAGTC	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1661T>C	15.37:g.86810268T>C	ENSP00000413001:p.Phe554Ser	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	112	45	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808856	0.70797	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.34275	1.37;1.37	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	H	0.97291	3.975	0.46396	D	0.999024	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.996	D	0.83584	0.0119	10	0.87932	D	0	-15.5317	14.4553	0.67413	0.0:0.0:0.0:1.0	.	253;285;554	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	S	583;554;285	ENSP00000397173:F554S;ENSP00000373949:F285S	ENSP00000373949:F285S	F	+	2	0	AGBL1	84611272	1.000000	0.71417	0.989000	0.46669	0.528000	0.34623	6.754000	0.74909	2.004000	0.58718	0.533000	0.62120	TTT	.		0.408	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		C	86810268	T	C	86810268	3	2	62	1	0	0	0	0	1	0	0	0	375	1841	64	4	1703	4	AGBL1	15	86810268	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	523252	86810268	15721124	1104	13472											
POLG	5428	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	89864046	89864046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggccttctcagctgCctcctgctgtgtgagccggt	13	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:89864046C>T	ENST00000268124.5	-	18	3265	c.2932G>A	c.(2932-2934)Gca>Aca	p.A978T	POLG_ENST00000442287.2_Missense_Mutation_p.A978T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	978					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTCTCAGCTGCCTCCTGCTGT	0.587								DNA polymerases (catalytic subunits)																													p.A978T	Colon(73;648 1203 11348 18386 27782)	.											.	POLG-228	0			c.G2932A						.						59	52	54					15																	89864046		2200	4299	6499	SO:0001583	missense	5428	exon18			CAGCTGCCTCCTG	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2932G>A	15.37:g.89864046C>T	ENSP00000268124:p.Ala978Thr	Somatic	64	1		WXS	Illumina GAIIx	Phase_I	114	40	NM_002693	0	0	29	56	27	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499680	0.96355	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98105	-4.72;-4.72	5.24	5.24	0.73138	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.31617	T	0.26	-11.1086	18.8187	0.92088	0.0:1.0:0.0:0.0	.	978	P54098	DPOG1_HUMAN	T	978	ENSP00000268124:A978T;ENSP00000399851:A978T	ENSP00000268124:A978T	A	-	1	0	POLG	87665050	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.487000	0.81328	2.448000	0.82819	0.655000	0.94253	GCA	.		0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		T	89864046	C	T	89864046	3	4	62	1	0	0	0	0	1	0	0	0	12239	739	26	3	811	3	POLG	15	89864046	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3053778	89864046	12667346	1105	13473											
AP3S2	10239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	90378789	90378789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactttgatgttgagatcGccaatgttgatgttccgagg	13	6	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:90378789G>A	ENST00000336418.4	-	6	932	c.540C>T	c.(538-540)ggC>ggT	p.G180G	AP3S2_ENST00000560771.1_5'Flank|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000558011.1_Silent_p.G192G|C15orf38-AP3S2_ENST00000398333.3_Silent_p.G381G	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	180					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)			TGTTGAGATCGCCAATGTTGA	0.483																																					p.G381G		.											.	.	0			c.C1143T						.						210	187	195					15																	90378789		2200	4299	6499	SO:0001819	synonymous_variant	100526783	exon10			GAGATCGCCAATG	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.540C>T	15.37:g.90378789G>A		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	106	46	NM_001199058	0	0	50	101	51	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Silent	SNP	ENST00000336418.4	37	CCDS10357.1																																																																																			.		0.483	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			A	90378789	G	A	90378789	2	1	62	1	0	0	0	0	0	0	0	1	750	1074	38	1		1	AP3S2	15	90378789	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	514743	90378789	12152603	1106	13474											
RCCD1	91433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	91504901	91504901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttggatcggcctcgcCgtgtggaatactttgtagat	12	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:91504901C>T	ENST00000394258.2	+	8	1235	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	RCCD1_ENST00000556618.1_Missense_Mutation_p.R345C|RCCD1_ENST00000555155.1_Missense_Mutation_p.R343C	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	345						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)			TCGGCCTCGCCGTGTGGAATA	0.527																																					p.R345C		.											.	RCCD1-90	0			c.C1033T						.						149	133	138					15																	91504901		2198	4298	6496	SO:0001583	missense	91433	exon8			CCTCGCCGTGTGG		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.1033C>T	15.37:g.91504901C>T	ENSP00000377801:p.Arg345Cys	Somatic	201	0		WXS	Illumina GAIIx	Phase_I	316	146	NM_001017919	0	0	11	15	4	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904410	0.17760	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618;ENST00000556333	D;D;D	0.86030	-2.06;-2.06;-2.06	5.3	2.32	0.28847	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.286767	0.33477	N	0.004871	T	0.77184	0.4093	L	0.49256	1.55	0.39193	D	0.962999	B;B	0.29886	0.219;0.26	B;B	0.24974	0.034;0.057	T	0.69924	-0.5013	10	0.48119	T	0.1	.	6.3515	0.21379	0.1288:0.6526:0.0:0.2186	.	343;345	G3V2I3;A6NED2	.;RCCD1_HUMAN	C	345;343;345;134	ENSP00000377801:R345C;ENSP00000450678:R343C;ENSP00000451963:R345C	ENSP00000377801:R345C	R	+	1	0	RCCD1	89305905	0.993000	0.37304	0.139000	0.22197	0.013000	0.08279	1.887000	0.39698	0.219000	0.20840	0.449000	0.29647	CGT	.		0.527	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		T	91504901	C	T	91504901	3	4	62	1	0	0	0	0	1	0	0	0	13220	652	23	1	1059	1	RCCD1	15	91504901	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1126112	91504901	11026491	1107	13475											
MCTP2	55784	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	95013607	95013607	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttcatctctggcctgtttGattctggcagcagccaccat	8	13	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:95013607G>T	ENST00000357742.4	+	20	2406	c.2406G>T	c.(2404-2406)ttG>ttT	p.L802F	MCTP2_ENST00000451018.3_Missense_Mutation_p.L747F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	802					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGCCTGTTTGATTCTGGCAG	0.413																																					p.L802F		.											.	MCTP2-93	0			c.G2406T						.						194	186	189					15																	95013607		2197	4298	6495	SO:0001583	missense	55784	exon20			CTGTTTGATTCTG	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2406G>T	15.37:g.95013607G>T	ENSP00000350377:p.Leu802Phe	Somatic	54	0		WXS	Illumina GAIIx	Phase_I	69	29	NM_018349	0	0	0	0	0	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492435	0.64074	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.67865	-0.29;-0.15	5.32	4.17	0.49024	Phosphoribosyltransferase C-terminal (1);	0.210963	0.41605	D	0.000856	T	0.71307	0.3324	L	0.61036	1.89	0.80722	D	1	D;D	0.61697	0.99;0.962	P;P	0.59012	0.83;0.85	T	0.72246	-0.4349	10	0.56958	D	0.05	.	5.7175	0.17968	0.1576:0.0:0.6655:0.1769	.	747;802	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	F	747;802	ENSP00000395109:L747F;ENSP00000350377:L802F	ENSP00000350377:L802F	L	+	3	2	MCTP2	92814611	1.000000	0.71417	0.893000	0.35052	0.981000	0.71138	1.302000	0.33459	2.645000	0.89757	0.650000	0.86243	TTG	.		0.413	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	95013607	G	T	95013607	3	4	62	1	0	0	0	0	1	0	0	0	9439	1281	45	3	2560	3	MCTP2	15	95013607	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3508706	95013607	7517785	1108	13476											
ARRDC4	91947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	98511297	98511297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttggtttttcacttcTggtccagtctcgctgagtgc	12	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:98511297T>C	ENST00000268042.6	+	4	740	c.576T>C	c.(574-576)tcT>tcC	p.S192S	ARRDC4_ENST00000538249.1_Silent_p.S105S	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	192					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTTCACTTCTGGTCCAGTCT	0.353																																					p.S192S		.											.	ARRDC4-90	0			c.T576C						.						104	113	110					15																	98511297		2197	4298	6495	SO:0001819	synonymous_variant	91947	exon4			CACTTCTGGTCCA	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.576T>C	15.37:g.98511297T>C		Somatic	37	0		WXS	Illumina GAIIx	Phase_I	50	15	NM_183376	0	0	3	5	2	Q6NSI9	Silent	SNP	ENST00000268042.6	37	CCDS10377.1																																																																																			.		0.353	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		C	98511297	T	C	98511297	2	2	62	1	0	0	0	0	0	0	0	1	986	1567	55	4		4	ARRDC4	15	98511297	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3497690	98511297	4020095	1109	13477											
IGF1R	3480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr15	99250942	99250942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagctcacggtcattacCgagtacttgctgctgttccg	9	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:99250942C>T	ENST00000268035.6	+	2	857	c.246C>T	c.(244-246)acC>acT	p.T82T	IGF1R_ENST00000558762.1_Silent_p.T82T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	82					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)"	CGGTCATTACCGAGTACTTGC	0.592																																					p.T82T		.											.	IGF1R-1490	0			c.C246T						.						110	78	89					15																	99250942		2197	4297	6494	SO:0001819	synonymous_variant	3480	exon2			CATTACCGAGTAC	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.246C>T	15.37:g.99250942C>T		Somatic	256	2		WXS	Illumina GAIIx	Phase_I	360	150	NM_000875	0	0	14	23	9	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																			.		0.592	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99250942	C	T	99250942	2	4	62	1	0	0	0	0	0	0	0	1	7598	639	23	1		1	IGF1R	15	99250942	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	739645	99250942	3280450	1110	13478											
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	100514681	100514681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcagcgctggtaccAccgcatgtcctggcagaggt	14	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:100514681A>T	ENST00000268070.4	-	22	3319	c.3214T>A	c.(3214-3216)Tgg>Agg	p.W1072R	CTD-3076O17.1_ENST00000528696.3_RNA|CTD-3076O17.2_ENST00000559400.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1072	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					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)		CGCTGGTACCACCGCATGTCC	0.572																																					p.W1072R		.											.	ADAMTS17-228	0			c.T3214A						.						102	86	91					15																	100514681		2203	4300	6503	SO:0001583	missense	170691	exon22			GGTACCACCGCAT	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.3214T>A	15.37:g.100514681A>T	ENSP00000268070:p.Trp1072Arg	Somatic	132	0		WXS	Illumina GAIIx	Phase_I	185	82	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787267	0.90367	.	.	ENSG00000140470	ENST00000268070	T	0.44482	0.92	5.7	5.7	0.88788	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57516	-0.7798	10	0.87932	D	0	.	15.9595	0.79918	1.0:0.0:0.0:0.0	.	1072	Q8TE56	ATS17_HUMAN	R	1072	ENSP00000268070:W1072R	ENSP00000268070:W1072R	W	-	1	0	ADAMTS17	98332204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.368000	0.90115	2.164000	0.68074	0.528000	0.53228	TGG	.		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100514681	A	T	100514681	3	4	62	1	0	0	0	0	1	0	0	0	262	159	6	5	77	5	ADAMTS17	15	100514681	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1263739	100514681	2016711	1111	13479											
ADAMTS17	170691	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	100533255	100533255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggctgctctcaccgTagaccagtccccagttttcc	8	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:100533255T>C	ENST00000268070.4	-	20	3052	c.2947A>G	c.(2947-2949)Acg>Gcg	p.T983A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	983	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GCTCTCACCGTAGACCAGTCC	0.617																																					p.T983A		.											.	ADAMTS17-228	0			c.A2947G						.						90	73	79					15																	100533255		2203	4300	6503	SO:0001583	missense	170691	exon20			TCACCGTAGACCA	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.2947A>G	15.37:g.100533255T>C	ENSP00000268070:p.Thr983Ala	Somatic	93	2		WXS	Illumina GAIIx	Phase_I	97	48	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499552	0.64298	.	.	ENSG00000140470	ENST00000268070	T	0.49720	0.77	5.41	5.41	0.78517	.	0.062583	0.64402	D	0.000011	T	0.29190	0.0726	N	0.04275	-0.24	0.32595	N	0.526652	B	0.12013	0.005	B	0.18871	0.023	T	0.32561	-0.9902	10	0.46703	T	0.11	.	15.4408	0.75181	0.0:0.0:0.0:1.0	.	983	Q8TE56	ATS17_HUMAN	A	983	ENSP00000268070:T983A	ENSP00000268070:T983A	T	-	1	0	ADAMTS17	98350778	1.000000	0.71417	0.964000	0.40570	0.848000	0.48234	7.382000	0.79729	2.031000	0.59945	0.533000	0.62120	ACG	.		0.617	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		C	100533255	T	C	100533255	3	2	62	1	0	0	0	0	1	0	0	0	262	1638	57	4	352	4	ADAMTS17	15	100533255	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	18574	100533255	1998137	1112	13480											
TM2D3	80213	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	102192528	102192528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcacgcgacacaaggCgcggaggcccctcagcggga	16	14	1	0	rs149437101		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:102192528C>T	ENST00000333202.3	-	1	42	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	TM2D3_ENST00000561373.1_5'Flank|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Missense_Mutation_p.A13T|TM2D3_ENST00000347970.3_Missense_Mutation_p.A13T|TM2D3_ENST00000559107.1_Missense_Mutation_p.A13T	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	13						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGACACAAGGCGCGGAGGCCC	0.716																																					p.A13T		.											.	TM2D3-91	0			c.G37A						.						24	26	26					15																	102192528		2189	4284	6473	SO:0001583	missense	80213	exon1			ACAAGGCGCGGAG	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.37G>A	15.37:g.102192528C>T	ENSP00000330433:p.Ala13Thr	Somatic	53	1		WXS	Illumina GAIIx	Phase_I	135	44	NM_025141	0	0	39	39	0	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.118869	0.06838	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	.	.	.	4.57	-3.68	0.04463	.	1.434320	0.04046	N	0.303935	T	0.14056	0.0340	N	0.08118	0	0.09310	N	0.999991	B;B;B;B	0.24426	0.103;0.008;0.0;0.031	B;B;B;B	0.14578	0.011;0.001;0.002;0.006	T	0.09596	-1.0667	9	0.18276	T	0.48	-4.5247	1.1732	0.01829	0.3609:0.2813:0.2244:0.1335	.	13;13;13;13	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	T	13	.	ENSP00000330433:A13T	A	-	1	0	TM2D3	100010051	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.352000	0.07701	-0.308000	0.08792	-0.538000	0.04264	GCC	A|0.000;C|1.000		0.716	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		T	102192528	C	T	102192528	3	4	62	1	0	0	0	0	1	0	0	0	16012	768	27	1	730	1	TM2D3	15	102192528	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1659273	102192528	338864	1113	13481											
OR4F15	390649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	102358817	102358817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaagaatgtgtctatActttttagccacttcctcta	6	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:102358817A>G	ENST00000332238.4	+	1	452	c.428A>G	c.(427-429)tAc>tGc	p.Y143C		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGTGTCTATACTTTTTAGCC	0.418																																					p.Y143C		.											.	OR4F15-68	0			c.A428G						.						229	213	218					15																	102358817		2203	4300	6503	SO:0001583	missense	390649	exon1			GTCTATACTTTTT	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.428A>G	15.37:g.102358817A>G	ENSP00000333184:p.Tyr143Cys	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	264	130	NM_001001674	0	0	0	0	0	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.081556	0.01888	.	.	ENSG00000182854	ENST00000332238	T	0.00084	8.75	5.57	-11.1	0.00147	GPCR, rhodopsin-like superfamily (1);	1.176380	0.06093	N	0.664011	T	0.00039	0.0001	N	0.02169	-0.655	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40831	-0.9542	9	.	.	.	.	3.8048	0.08773	0.0875:0.129:0.2527:0.5309	.	143	Q8NGB8	O4F15_HUMAN	C	143	ENSP00000333184:Y143C	.	Y	+	2	0	OR4F15	100176340	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.369000	0.00495	-3.601000	0.00134	-0.321000	0.08615	TAC	.		0.418	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		G	102358817	A	G	102358817	3	3	62	1	0	0	0	0	1	0	0	0	11100	391	14	4	430	4	OR4F15	15	102358817	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	166289	102358817	172575	1114	13482											
MSLN	10232	hgsc.bcm.edu;bcgsc.ca	37	chr16	816959	816960	+	Frame_Shift_Ins	INS	-	-	T													tatcccaaggcccgccttgcINStttccagaacatgaacgggt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:816959_816960insT	ENST00000382862.3	+	14	1567_1568	c.1472_1473insT	c.(1471-1476)gctttcfs	p.AF491fs	MSLN_ENST00000545450.2_Frame_Shift_Ins_p.AF483fs|MSLN_ENST00000563941.1_Frame_Shift_Ins_p.AF483fs|MSLN_ENST00000566549.1_Frame_Shift_Ins_p.AF483fs	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	491					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCGCCTTGCTTTCCAGAACA	0.629																																					p.A491fs		.											.	MSLN-91	0			c.1472_1473insT						.																																			SO:0001589	frameshift_variant	10232	exon14			GCCTTGCTTTCCA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1475dupT	16.37:g.816962_816962dupT	ENSP00000372313:p.Ala491fs	Somatic	212	1		WXS	Illumina GAIIx	Phase_I	269	125	NM_013404	0	0	0	0	0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Frame_Shift_Ins	INS	ENST00000382862.3	37	CCDS32356.1																																																																																			.		0.629	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			T	816960	-	T	816959	7	5	62	1	0	1	1	0	0	0	0	0	9919	797	28	0	1522	0	MSLN	16	816959	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10		816959	89537794	1115	13483											
CHTF18	63922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	840346	840346	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcctgttgtttgcacaGcggcgggagcggctgcttca	14	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:840346G>A	ENST00000262315.9	+	6	762		c.e6-1		RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_Splice_Site|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000317063.6_Splice_Site|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Splice_Site|RPUSD1_ENST00000561734.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)						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)				TGTTTGCACAGCGGCGGGAGC	0.662																																					.		.											.	CHTF18-227	0			c.700-1G>A						.						20	24	23					16																	840346		1860	4084	5944	SO:0001630	splice_region_variant	63922	exon6			TGCACAGCGGCGG	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.700-1G>A	16.37:g.840346G>A		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	76	30	NM_022092	0	0	0	2	2	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Splice_Site	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405396	0.25378	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315;ENST00000426047	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7688	0.78149	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHTF18	780347	0.975000	0.34042	0.693000	0.30195	0.063000	0.16089	2.203000	0.42752	2.401000	0.81631	0.423000	0.28283	.	.		0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092	Intron	A	840346	G	A	840346	5	1	62	1	0	0	0	0	0	0	1	0	3421	985	34	3	721	3	CHTF18	16	840346	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	23387	840346	89514407	1116	13484											
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1682360	1682360	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaccaagtacatcgactttGatcatggtgagtgtgccacg	10	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1682360G>C	ENST00000397412.3	+	4	787	c.688G>C	c.(688-690)Gat>Cat	p.D230H	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.D230H|LA16c-431H6.6_ENST00000454337.1_Nonstop_Mutation_p.*34S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.D227H			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	230						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CATCGACTTTGATCATGGTGA	0.597																																					p.D230H		.											.	.	0			c.G688C						.						38	41	40					16																	1682360		2092	4203	6295	SO:0001583	missense	57585	exon3			GACTTTGATCATG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.688G>C	16.37:g.1682360G>C	ENSP00000380559:p.Asp230His	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	123	53	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915875	0.52546	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	T;T;T	0.79653	-1.29;-1.29;-1.29	5.24	4.27	0.50696	.	0.280522	0.33610	N	0.004736	T	0.72220	0.3433	N	0.08118	0	0.80722	D	1	D	0.53151	0.958	P	0.53313	0.723	T	0.76594	-0.2902	10	0.72032	D	0.01	-20.2505	10.641	0.45592	0.15:0.0:0.85:0.0	.	230	Q96RY5	CRML_HUMAN	H	230;230;227	ENSP00000380559:D230H;ENSP00000293925:D230H;ENSP00000413634:D227H	ENSP00000293925:D230H	D	+	1	0	CRAMP1L	1622361	1.000000	0.71417	0.443000	0.26883	0.644000	0.38419	4.443000	0.59994	1.309000	0.44985	0.563000	0.77884	GAT	.		0.597	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			C	1682360	G	C	1682360	3	2	62	1	0	0	0	0	1	0	0	0	3853	1290	45	3	698	3	CRAMP1L	16	1682360	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	842014	1682360	88672393	1117	13485											
MAPK8IP3	23162	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1793368	1793368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctccctgaacgtgttccCcctggctgacggcacggtac	10	17	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1793368C>A	ENST00000250894.4	+	5	792	c.635C>A	c.(634-636)cCc>cAc	p.P212H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P212H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	212					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGTTCCCCCTGGCTGAC	0.652																																					p.P212H		.											.	MAPK8IP3-1109	0			c.C635A						.						44	47	46					16																	1793368		2040	4162	6202	SO:0001583	missense	23162	exon5			TGTTCCCCCTGGC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.635C>A	16.37:g.1793368C>A	ENSP00000250894:p.Pro212His	Somatic	56	1		WXS	Illumina GAIIx	Phase_I	76	21	NM_015133	0	0	10	12	2	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443881	0.63067	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.33216	1.42;1.42	5.16	5.16	0.70880	.	0.059251	0.64402	D	0.000002	T	0.51991	0.1707	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.99	P;P;P;P	0.61940	0.896;0.885;0.885;0.799	T	0.48559	-0.9025	10	0.38643	T	0.18	-34.2402	18.2866	0.90115	0.0:1.0:0.0:0.0	.	213;212;212;212	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	H	212	ENSP00000250894:P212H;ENSP00000348290:P212H	ENSP00000250894:P212H	P	+	2	0	MAPK8IP3	1733369	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.663000	0.83820	2.408000	0.81797	0.643000	0.83706	CCC	.		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		A	1793368	C	A	1793368	3	1	62	1	0	0	0	0	1	0	0	0	9324	623	22	3	653	3	MAPK8IP3	16	1793368	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	111008	1793368	88561385	1118	13486											
MAPK8IP3	23162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1814309	1814309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccttgcagctgtggtGtgccgcgggcgtcaacctga	14	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1814309G>T	ENST00000250894.4	+	19	2283	c.2126G>T	c.(2125-2127)tGt>tTt	p.C709F	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.C703F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	709					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGCTGTGGTGTGCCGCGGGC	0.716																																					p.C709F		.											.	MAPK8IP3-1109	0			c.G2126T						.						15	21	19					16																	1814309		2004	4140	6144	SO:0001583	missense	23162	exon19			TGTGGTGTGCCGC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2126G>T	16.37:g.1814309G>T	ENSP00000250894:p.Cys709Phe	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	194	83	NM_015133	0	0	0	0	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809685	0.70797	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.82893	-1.66;-1.63	4.8	4.8	0.61643	.	0.099846	0.64402	D	0.000001	D	0.91690	0.7373	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.994	D	0.93135	0.6536	10	0.87932	D	0	-10.8027	17.4613	0.87620	0.0:0.0:1.0:0.0	.	710;703;709	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	F	709;703	ENSP00000250894:C709F;ENSP00000348290:C703F	ENSP00000250894:C709F	C	+	2	0	MAPK8IP3	1754310	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.717000	0.84732	2.224000	0.72417	0.591000	0.81541	TGT	.		0.716	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		T	1814309	G	T	1814309	3	4	62	1	0	0	0	0	1	0	0	0	9324	1377	48	3	2216	3	MAPK8IP3	16	1814309	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	20941	1814309	88540444	1119	13487											
EME2	197342	hgsc.bcm.edu	37	chr16	1823444	1823444	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctgcggccggagcaggtCctgaagcgcctcgcggtgtg	17	13	0	1	rs761065	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4	5	5		216	-5.9	0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	4	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		G	1823444	C	G	1823444	2	3	62	1	0	0	0	0	0	0	0	1	5105	842	30	3		3	EME2	16	1823444	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	9135	1823444	88531309	1120	13488											
RPS2	6187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2013252	2013252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaatcaatgatctcTgattcctgaaacaaacaaga	7	7	2	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2013252T>C	ENST00000343262.4	-	4	329	c.273A>G	c.(271-273)tcA>tcG	p.S91S	RPS2_ENST00000526522.1_Silent_p.S91S|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Silent_p.S61S|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000530225.1_Silent_p.S91S	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	91					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)|positive regulation of transferase activity (GO:0051347)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CAATGATCTCTGATTCCTGAA	0.468																																					p.S91S		.											.	RPS2-90	0			c.A273G						.						8	8	8					16																	2013252		2172	4258	6430	SO:0001819	synonymous_variant	6187	exon4			GATCTCTGATTCC	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.273A>G	16.37:g.2013252T>C		Somatic	135	0		WXS	Illumina GAIIx	Phase_I	147	56	NM_002952	0	0	8	10	2	B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	CCDS10452.1																																																																																			.		0.468	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		C	2013252	T	C	2013252	2	2	62	1	0	0	0	0	0	0	0	1	13676	1567	55	4		4	RPS2	16	2013252	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	189808	2013252	88341501	1121	13489											
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2052607	2052607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaagcagctcatcattgtCcaggtagcgctcgtcacaga	9	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2052607C>T	ENST00000563630.1	-	4	669	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ZNF598_ENST00000562103.1_Missense_Mutation_p.D143N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D198N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	198							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						TCATCATTGTCCAGGTAGCGC	0.647																																					p.D198N		.											.	ZNF598-432	0			c.G592A						.						65	72	70					16																	2052607		2170	4269	6439	SO:0001583	missense	90850	exon6			CATTGTCCAGGTA	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.427G>A	16.37:g.2052607C>T	ENSP00000455882:p.Asp143Asn	Somatic	154	0		WXS	Illumina GAIIx	Phase_I	205	73	NM_178167	0	0	6	17	11	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	26.1	4.700394	0.88924	.	.	ENSG00000167962	ENST00000431526	T	0.30448	1.53	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.099907	0.64402	D	0.000003	T	0.56108	0.1963	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59134	-0.7511	10	0.56958	D	0.05	-31.5528	17.216	0.86944	0.0:1.0:0.0:0.0	.	198	Q86UK7	ZN598_HUMAN	N	198	ENSP00000411409:D198N	ENSP00000411409:D198N	D	-	1	0	ZNF598	1992608	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	7.381000	0.79718	2.310000	0.77875	0.561000	0.74099	GAC	.		0.647	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		T	2052607	C	T	2052607	3	4	62	1	0	0	0	0	1	0	0	0	18076	855	30	3	2158	3	ZNF598	16	2052607	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	39355	2052607	88302146	1122	13490											
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2053060	2053060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcatgtgctgctccaggtCcccgaagaggctgaaaggtg	14	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2053060C>T	ENST00000563630.1	-	3	474	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZNF598_ENST00000562103.1_Missense_Mutation_p.D78N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D133N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	133							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						TGCTCCAGGTCCCCGAAGAGG	0.682																																					p.D133N		.											.	ZNF598-432	0			c.G397A						.						10	14	13					16																	2053060		2015	4155	6170	SO:0001583	missense	90850	exon5			CCAGGTCCCCGAA	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.232G>A	16.37:g.2053060C>T	ENSP00000455882:p.Asp78Asn	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	161	52	NM_178167	1	0	31	48	16	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	24.0	4.477154	0.84640	.	.	ENSG00000167962	ENST00000431526	T	0.25579	1.79	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);	0.050782	0.85682	D	0.000000	T	0.37839	0.1018	L	0.28344	0.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.69142	0.962	T	0.25813	-1.0121	10	0.54805	T	0.06	-34.0688	16.7112	0.85386	0.0:1.0:0.0:0.0	.	133	Q86UK7	ZN598_HUMAN	N	133	ENSP00000411409:D133N	ENSP00000411409:D133N	D	-	1	0	ZNF598	1993061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.272000	0.78516	2.184000	0.69523	0.655000	0.94253	GAC	.		0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		T	2053060	C	T	2053060	3	4	62	1	0	0	0	0	1	0	0	0	18076	855	30	3	2357	3	ZNF598	16	2053060	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	453	2053060	88301693	1123	13491											
ABCA3	21	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2374440	2374440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgctgtggttgaaggGgtgctcgaagaccacggcgg	16	10	0	2	rs369686350		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2374440G>T	ENST00000301732.5	-	6	1112	c.412C>A	c.(412-414)Ccc>Acc	p.P138T	ABCA3_ENST00000382381.3_Missense_Mutation_p.P138T|ABCA3_ENST00000567910.1_Missense_Mutation_p.P138T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	138					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)	TGGTTGAAGGGGTGCTCGAAG	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		16487	0		0	False		,,,				2504	0				p.P138T		.											.	ABCA3-1015	0			c.C412A						.						33	28	30					16																	2374440		2198	4300	6498	SO:0001583	missense	21	exon6			TGAAGGGGTGCTC	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.412C>A	16.37:g.2374440G>T	ENSP00000301732:p.Pro138Thr	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	71	34	NM_001089	0	0	14	31	17	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.691	0.691113	0.15039	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89617	-2.54	5.42	-5.12	0.02893	.	1.359120	0.04515	N	0.383481	T	0.68742	0.3034	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.60974	-0.7156	10	0.13470	T	0.59	.	3.1029	0.06331	0.0974:0.3758:0.2088:0.318	.	138;200;138;138	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	T	138;200	ENSP00000301732:P138T	ENSP00000301732:P138T	P	-	1	0	ABCA3	2314441	0.000000	0.05858	0.003000	0.11579	0.932000	0.56968	-1.466000	0.02355	-0.920000	0.03799	-0.262000	0.10625	CCC	.		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		T	2374440	G	T	2374440	3	4	62	1	0	0	0	0	1	0	0	0	33	1232	43	3	4814	3	ABCA3	16	2374440	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	321380	2374440	87980313	1124	13492											
CCNF	899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	2487128	2487128	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgtctgtccccgcAgtgtctgtgtctgatgaggc	12	12	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2487128A>T	ENST00000397066.4	+	5	434		c.e5-1			NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F						mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGTCCCCGCAGTGTCTGTGT	0.572																																					.		.											.	CCNF-658	0			c.347-2A>T						.						114	119	117					16																	2487128		2198	4300	6498	SO:0001630	splice_region_variant	899	exon5			CCCCGCAGTGTCT	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.347-1A>T	16.37:g.2487128A>T		Somatic	46	0		WXS	Illumina GAIIx	Phase_I	65	26	NM_001761	0	0	0	9	9	B2R8H3|Q96EG9	Splice_Site	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156629	0.57259	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1998	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNF	2427129	1.000000	0.71417	0.998000	0.56505	0.600000	0.36913	8.775000	0.91772	2.263000	0.75096	0.533000	0.62120	.	.		0.572	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761	Intron	T	2487128	A	T	2487128	5	4	62	1	0	0	0	0	0	0	1	0	2929	202	7	5	363	5	CCNF	16	2487128	Splice_Site	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	112688	2487128	87867625	1125	13493											
CCNF	899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2487231	2487231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccgcacctttcatcTggctcttcatccgccctccg	9	17	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2487231T>C	ENST00000397066.4	+	5	536	c.448T>C	c.(448-450)Tgg>Cgg	p.W150R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	150					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCTTTCATCTGGCTCTTCAT	0.617																																					p.W150R		.											.	CCNF-658	0			c.T448C						.						67	61	63					16																	2487231		2198	4300	6498	SO:0001583	missense	899	exon5			TTCATCTGGCTCT	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.448T>C	16.37:g.2487231T>C	ENSP00000380256:p.Trp150Arg	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	73	30	NM_001761	0	0	1	5	4	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353605	0.82243	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.64991	-0.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82228	-0.0561	10	0.87932	D	0	-21.5037	14.7718	0.69684	0.0:0.0:0.0:1.0	.	150	P41002	CCNF_HUMAN	R	150;65	ENSP00000380256:W150R	ENSP00000293968:W65R	W	+	1	0	CCNF	2427232	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.818000	0.86416	2.172000	0.68678	0.533000	0.62120	TGG	.		0.617	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		C	2487231	T	C	2487231	3	2	62	1	0	0	0	0	1	0	0	0	2929	1580	55	4	466	4	CCNF	16	2487231	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	103	2487231	87867522	1126	13494											
ATP6V0C	527	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	2564109	2564109	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccccacccgcagacatgtCcgagtccaagagcggccccg	10	19	0	2	rs147497038		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2564109C>G	ENST00000330398.4	+	1	239	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RP11-20I23.1_ENST00000564543.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.S2C|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.S2C|ATP6V0C_ENST00000565223.1_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	2					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCAGACATGTCCGAGTCCAAG	0.736																																					p.S2C		.											.	ATP6V0C-91	0			c.C5G						.						17	17	17					16																	2564109		2187	4293	6480	SO:0001583	missense	527	exon2			ACATGTCCGAGTC	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.5C>G	16.37:g.2564109C>G	ENSP00000329757:p.Ser2Cys	Somatic	38	0		WXS	Illumina GAIIx	Phase_I	78	44	NM_001198569	0	0	187	349	162	Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927847	0.34002	.	.	ENSG00000185883	ENST00000330398	.	.	.	3.66	3.66	0.41972	.	0.569105	0.17084	U	0.187667	T	0.52597	0.1744	L	0.42245	1.32	0.80722	D	1	B	0.33448	0.412	B	0.36959	0.237	T	0.60105	-0.7328	9	0.87932	D	0	-10.3754	12.9649	0.58478	0.0:1.0:0.0:0.0	.	2	P27449	VATL_HUMAN	C	2	.	ENSP00000329757:S2C	S	+	2	0	ATP6V0C	2504110	1.000000	0.71417	0.994000	0.49952	0.122000	0.20287	3.981000	0.56902	1.892000	0.54788	0.543000	0.68304	TCC	C|1.000;T|0.000		0.736	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		G	2564109	C	G	2564109	3	3	62	1	0	0	0	0	1	0	0	0	1173	855	30	3	7	3	ATP6V0C	16	2564109	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	76878	2564109	87790644	1127	13495											
CEMP1	752014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2580891	2580891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggatacccacctctgCcttgacggccgcgcacccct	10	18	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2580891C>T	ENST00000567119.1	-	1	518	c.184G>A	c.(184-186)Gca>Aca	p.A62T	AMDHD2_ENST00000413459.3_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Missense_Mutation_p.A62T	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	62						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						CCCACCTCTGCCTTGACGGCC	0.662																																					p.A62T		.											.	CEMP1-23	0			c.G184A						.						42	50	48					16																	2580891		2041	4179	6220	SO:0001583	missense	752014	exon1			CCTCTGCCTTGAC	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.184G>A	16.37:g.2580891C>T	ENSP00000457380:p.Ala62Thr	Somatic	108	0		WXS	Illumina GAIIx	Phase_I	109	49	NM_001048212	0	0	4	5	1	B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	6.807	0.517995	0.13005	.	.	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.7	-0.56	0.11789	.	.	.	.	.	T	0.26738	0.0654	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.19289	-1.0310	9	0.87932	D	0	.	2.2847	0.04124	0.2967:0.5072:0.0:0.196	.	62	Q6PRD7	CEMP1_HUMAN	T	62	ENSP00000371787:A62T	ENSP00000371787:A62T	A	-	1	0	CEMP1	2520892	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.185000	0.09684	-0.118000	0.11851	-0.314000	0.08810	GCA	.		0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		T	2580891	C	T	2580891	3	4	62	1	0	0	0	0	1	0	0	0	3231	739	26	3	563	3	CEMP1	16	2580891	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	16782	2580891	87773862	1128	13496											
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2816678	2816678	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgctcaccacttgctaTccgccgccgctccagatccc	7	19	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2816678T>A	ENST00000301740.8	+	11	6698	c.6149T>A	c.(6148-6150)aTc>aAc	p.I2050N		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2050	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCACTTGCTATCCGCCGCCGC	0.587																																					p.I2050N		.											.	SRRM2-93	0			c.T6149A						.						71	56	61					16																	2816678		2198	4300	6498	SO:0001583	missense	23524	exon11			TTGCTATCCGCCG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6149T>A	16.37:g.2816678T>A	ENSP00000301740:p.Ile2050Asn	Somatic	183	0		WXS	Illumina GAIIx	Phase_I	233	98	NM_016333	1	0	100	210	109	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	8.531	0.870940	0.17322	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.29655	1.56	5.47	5.47	0.80525	.	0.202113	0.35466	N	0.003181	T	0.14787	0.0357	N	0.08118	0	0.31544	N	0.659535	P	0.44090	0.826	B	0.41088	0.347	T	0.06716	-1.0811	10	0.16896	T	0.51	-1.4596	8.1227	0.30980	0.0:0.0896:0.0:0.9104	.	2050	Q9UQ35	SRRM2_HUMAN	N	2050;1302	ENSP00000301740:I2050N	ENSP00000301740:I2050N	I	+	2	0	SRRM2	2756679	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	2.428000	0.44749	2.083000	0.62718	0.533000	0.62120	ATC	.		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2816678	T	A	2816678	3	1	62	1	0	0	0	0	1	0	0	0	15216	1435	50	5	6187	5	SRRM2	16	2816678	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	235787	2816678	87538075	1129	13497											
CLDN9	9080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3063682	3063682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcccagtgtaccacgTgtgtggaggacgaaggtgcc	16	10	0	0	rs199692917		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3063682T>C	ENST00000445369.2	+	1	1226	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	107					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GTGTACCACGTGTGTGGAGGA	0.672																																					p.C107R		.											.	CLDN9-90	0			c.T319C						.						103	95	98					16																	3063682		2198	4300	6498	SO:0001583	missense	9080	exon1			ACCACGTGTGTGG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.319T>C	16.37:g.3063682T>C	ENSP00000398017:p.Cys107Arg	Somatic	206	0		WXS	Illumina GAIIx	Phase_I	238	75	NM_020982	0	0	0	0	0		Missense_Mutation	SNP	ENST00000445369.2	37	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438101	0.62955	.	.	ENSG00000213937	ENST00000445369	D	0.88124	-2.34	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	H	0.97829	4.085	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.96662	0.9490	10	0.87932	D	0	.	12.1931	0.54282	0.0:0.0:0.0:1.0	.	107	O95484	CLD9_HUMAN	R	107	ENSP00000398017:C107R	ENSP00000398017:C107R	C	+	1	0	CLDN9	3003683	1.000000	0.71417	0.915000	0.36163	0.447000	0.32167	7.864000	0.87037	1.962000	0.57031	0.383000	0.25322	TGT	T|0.999;C|0.001		0.672	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		C	3063682	T	C	3063682	3	2	62	1	0	0	0	0	1	0	0	0	3499	1696	59	4	321	4	CLDN9	16	3063682	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	247004	3063682	87291071	1130	13498											
CLDN9	9080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3063792	3063792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctggacggcgcacgccatCatccaggacttctacaaccc	9	16	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3063792C>T	ENST00000445369.2	+	1	1336	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	143					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CGCACGCCATCATCCAGGACT	0.672																																					p.I143I		.											.	CLDN9-90	0			c.C429T						.						55	55	55					16																	3063792		2198	4299	6497	SO:0001819	synonymous_variant	9080	exon1			CGCCATCATCCAG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.429C>T	16.37:g.3063792C>T		Somatic	162	0		WXS	Illumina GAIIx	Phase_I	179	66	NM_020982	0	0	0	0	0		Silent	SNP	ENST00000445369.2	37	CCDS10487.1																																																																																			.		0.672	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		T	3063792	C	T	3063792	2	4	62	1	0	0	0	0	0	0	0	1	3499	816	29	3		3	CLDN9	16	3063792	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	110	3063792	87290961	1131	13499											
C16orf90	646174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3545393	3545393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcttatgtgcagcTcagaaaatgcacagaccaag	7	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3545393T>C	ENST00000437192.3	-	1	31	c.29A>G	c.(28-30)gAg>gGg	p.E10G	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	7										large_intestine(1)	1						TATGTGCAGCTCAGAAAATGC	0.632																																					p.E10G		.											.	.	0			c.A29G						.						36	36	36					16																	3545393		1934	4157	6091	SO:0001583	missense	646174	exon1			TGCAGCTCAGAAA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.29A>G	16.37:g.3545393T>C	ENSP00000401335:p.Glu10Gly	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	92	34	NM_001080524	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437192.3	37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060762	0.55432	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.26708	N	0.971033	P	0.51351	0.944	P	0.52957	0.714	T	0.50541	-0.8816	7	0.72032	D	0.01	.	11.7185	0.51668	0.0:0.0:0.0:1.0	.	10	A8MZG2-2	.	G	10	.	ENSP00000401335:E10G	E	-	2	0	C16orf90	3485394	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.207000	0.42788	2.027000	0.59764	0.460000	0.39030	GAG	.		0.632	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		C	3545393	T	C	3545393	3	2	62	1	0	0	0	0	1	0	0	0	1848	1551	54	4	531	4	C16orf90	16	3545393	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	481601	3545393	86809360	1132	13500											
VASN	114990	bcgsc.ca;mdanderson.org	37	chr16	4431929	4431929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgactttggctgcccaGccaccaccaccacagccaca	7	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:4431929G>A	ENST00000304735.3	+	2	1206	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	351	LRRCT.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TGGCTGCCCAGCCACCACCAC	0.662																																					p.A351T		.											.	VASN-68	0			c.G1051A						.						18	18	18					16																	4431929		2176	4278	6454	SO:0001583	missense	114990	exon2			TGCCCAGCCACCA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1051G>A	16.37:g.4431929G>A	ENSP00000306864:p.Ala351Thr	Somatic	48	2		WXS	Illumina GAIIx	Phase_I	112	48	NM_138440	0	0	7	7	0	Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	ENST00000304735.3	37	CCDS10514.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335432	0.24253	.	.	ENSG00000168140	ENST00000304735	T	0.53423	0.62	5.5	5.5	0.81552	.	0.475924	0.22633	N	0.057560	T	0.24699	0.0599	N	0.04508	-0.205	0.26734	N	0.970522	P	0.36282	0.546	B	0.30401	0.115	T	0.08411	-1.0723	10	0.15066	T	0.55	-10.4232	16.9627	0.86277	0.0:0.0:1.0:0.0	.	351	Q6EMK4	VASN_HUMAN	T	351	ENSP00000306864:A351T	ENSP00000306864:A351T	A	+	1	0	VASN	4371930	0.992000	0.36948	0.955000	0.39395	0.954000	0.61252	3.279000	0.51670	2.607000	0.88179	0.579000	0.79373	GCC	.		0.662	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		A	4431929	G	A	4431929	3	1	62	1	0	0	0	0	1	0	0	0	17176	971	34	3	1053	3	VASN	16	4431929	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	886536	4431929	85922824	1133	13501											
USP7	7874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	9004639	9004639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcgtatttattgtccCcatcgagctgttctactgcc	8	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:9004639C>G	ENST00000344836.4	-	11	1322	c.1124G>C	c.(1123-1125)gGg>gCg	p.G375A	USP7_ENST00000381886.4_Missense_Mutation_p.G359A|USP7_ENST00000535863.1_Missense_Mutation_p.G276A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	375	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTATTGTCCCCATCGAGCTG	0.373																																					p.G375A		.											.	USP7-661	0			c.G1124C						.						165	135	145					16																	9004639		2197	4300	6497	SO:0001583	missense	7874	exon11			TTGTCCCCATCGA	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1124G>C	16.37:g.9004639C>G	ENSP00000343535:p.Gly375Ala	Somatic	78	0		WXS	Illumina GAIIx	Phase_I	68	32	NM_003470	0	0	18	37	19	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799115	0.90538	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.08720	3.06;3.06;3.06	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.29761	-1.0001	10	0.87932	D	0	.	19.4169	0.94704	0.0:1.0:0.0:0.0	.	375;359	Q93009;B7Z815	UBP7_HUMAN;.	A	375;383;276;276;317	ENSP00000343535:G375A;ENSP00000443646:G276A;ENSP00000439272:G317A	ENSP00000343535:G375A	G	-	2	0	USP7	8912140	1.000000	0.71417	0.623000	0.29173	0.904000	0.53231	7.616000	0.83018	2.670000	0.90874	0.549000	0.68633	GGG	.		0.373	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			G	9004639	C	G	9004639	3	3	62	1	0	0	0	0	1	0	0	0	17137	623	22	3	2268	3	USP7	16	9004639	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4572710	9004639	81350114	1134	13502											
USP7	7874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	9004658	9004658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcgagctgttctactgCcacataatccacaaatgatt	5	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:9004658C>T	ENST00000344836.4	-	11	1303	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	USP7_ENST00000381886.4_Missense_Mutation_p.A353T|USP7_ENST00000535863.1_Missense_Mutation_p.A270T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	369	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTTCTACTGCCACATAATCC	0.393																																					p.A369T		.											.	USP7-661	0			c.G1105A						.						140	116	124					16																	9004658		2197	4300	6497	SO:0001583	missense	7874	exon11			CTACTGCCACATA	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1105G>A	16.37:g.9004658C>T	ENSP00000343535:p.Ala369Thr	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	64	25	NM_003470	0	0	13	36	23	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665087	0.67700	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05513	3.43;3.43;3.43	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.38531	1.155	0.80722	D	1	B;B	0.23490	0.049;0.086	B;B	0.21708	0.036;0.036	T	0.36456	-0.9747	10	0.23302	T	0.38	.	19.4169	0.94704	0.0:1.0:0.0:0.0	.	369;353	Q93009;B7Z815	UBP7_HUMAN;.	T	369;377;270;270;311	ENSP00000343535:A369T;ENSP00000443646:A270T;ENSP00000439272:A311T	ENSP00000343535:A369T	A	-	1	0	USP7	8912159	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.616000	0.83018	2.670000	0.90874	0.549000	0.68633	GCA	.		0.393	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			T	9004658	C	T	9004658	3	4	62	1	0	0	0	0	1	0	0	0	17137	739	26	3	2287	3	USP7	16	9004658	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	19	9004658	81350095	1135	13503											
CLEC16A	23274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	11272519	11272519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgaagaggctgcatgtgCtgagcctgtgggcaccgctg	18	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:11272519C>T	ENST00000409790.1	+	24	3364	c.3134C>T	c.(3133-3135)gCt>gTt	p.A1045V	CLEC16A_ENST00000381822.2_Missense_Mutation_p.A132V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCATGTGCTGAGCCTGTG	0.697																																					p.A1045V		.											.	CLEC16A-92	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C3134T						.						10	14	13					16																	11272519		2086	4187	6273	SO:0001583	missense	23274	exon23			CATGTGCTGAGCC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.3134C>T	16.37:g.11272519C>T	ENSP00000387122:p.Ala1045Val	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	28	13	NM_015226	0	0	15	25	10		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384694	0.25031	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.43294	0.95	4.15	1.94	0.25998	.	0.807219	0.11184	N	0.590679	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.002	B;B	0.15484	0.013;0.004	T	0.18304	-1.0341	10	0.56958	D	0.05	0.3148	7.5947	0.28041	0.187:0.6316:0.1814:0.0	.	132;1045	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	V	1045;1045;132	ENSP00000387122:A1045V	ENSP00000371244:A132V	A	+	2	0	CLEC16A	11180020	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.289000	0.08365	0.846000	0.35142	0.655000	0.94253	GCT	.		0.697	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11272519	C	T	11272519	3	4	62	1	0	0	0	0	1	0	0	0	3507	797	28	3	3224	3	CLEC16A	16	11272519	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2267861	11272519	79082234	1136	13504											
NTAN1	123803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	15131997	15131997	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggagatgggtgtttttttAaaaacatcaaggtagatcta	10	4	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:15131997A>T	ENST00000287706.3	-	10	916	c.824T>A	c.(823-825)tTa>tAa	p.L275*	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	275					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						GTGTTTTTTTAAAAACATCAA	0.408																																					p.L275X		.											.	NTAN1-90	0			c.T824A						.						69	70	70					16																	15131997		2197	4300	6497	SO:0001587	stop_gained	123803	exon10			TTTTTTAAAAACA	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.824T>A	16.37:g.15131997A>T	ENSP00000287706:p.Leu275*	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	121	41	NM_173474	0	0	27	47	20	Q7Z4Z0	Nonsense_Mutation	SNP	ENST00000287706.3	37	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734585	0.89482	.	.	ENSG00000157045	ENST00000287706	.	.	.	5.87	5.87	0.94306	.	0.163106	0.40144	N	0.001174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6469	15.7569	0.78037	1.0:0.0:0.0:0.0	.	.	.	.	X	275	.	ENSP00000287706:L275X	L	-	2	0	NTAN1	15039498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.371000	0.80710	0.533000	0.62120	TTA	.		0.408	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		T	15131997	A	T	15131997	4	4	62	1	0	0	0	0	0	1	0	0	10734	372	13	5	112	5	NTAN1	16	15131997	Nonsense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3859478	15131997	75222756	1137	13505											
KIAA0430	9665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	15725252	15725252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacttgacacaagaaccActgtggctggagcagtgtgt	11	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:15725252A>G	ENST00000396368.3	-	6	1543	c.1337T>C	c.(1336-1338)gTg>gCg	p.V446A	KIAA0430_ENST00000551742.1_Missense_Mutation_p.V446A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V443A|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V446A|KIAA0430_ENST00000344181.3_Missense_Mutation_p.V268A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V443A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	446	NYN.				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)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACAAGAACCACTGTGGCTGG	0.438																																					p.V446A		.											.	KIAA0430-90	0			c.T1337C						.						80	77	78					16																	15725252		1951	4173	6124	SO:0001583	missense	9665	exon6			AGAACCACTGTGG	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.1337T>C	16.37:g.15725252A>G	ENSP00000379654:p.Val446Ala	Somatic	96	0		WXS	Illumina GAIIx	Phase_I	138	64	NM_014647	0	0	0	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804476	0.90623	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.24	5.24	0.73138	Domain of unknown function DUF88 (1);	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	L	0.54323	1.7	0.34767	D	0.733325	D;D;D;D	0.69078	0.971;0.997;0.997;0.977	D;D;D;D	0.79784	0.956;0.993;0.993;0.983	T	0.81090	-0.1090	9	0.87932	D	0	.	15.1314	0.72527	1.0:0.0:0.0:0.0	.	445;443;442;445	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	446;446;445;268;443;446;446	.	ENSP00000315718:V445A	V	-	2	0	KIAA0430	15632753	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.701000	0.91331	1.977000	0.57605	0.528000	0.53228	GTG	.		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		G	15725252	A	G	15725252	3	3	62	1	0	0	0	0	1	0	0	0	8204	159	6	4	3982	4	KIAA0430	16	15725252	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	593255	15725252	74629501	1138	13506											
ARL6IP1	23204	hgsc.bcm.edu;bcgsc.ca	37	chr16	18805952	18805954	+	In_Frame_Del	DEL	TTG	TTG	-													gtgagaagcaggttgtggacTtgttgtcccacccaagcaac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TTG	TTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:18805952_18805954delTTG	ENST00000304414.7	-	5	671_673	c.460_462delCAA	c.(460-462)caadel	p.Q154del	ARL6IP1_ENST00000546206.2_In_Frame_Del_p.Q125del|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_In_Frame_Del_p.Q154del	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	154					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GGTTGTGGACTTGTTGTCCCACC	0.414																																					p.154_154del		.											.	ARL6IP1-90	0			c.460_462del						.																																			SO:0001651	inframe_deletion	23204	exon5			GTGGACTTGTTGT	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"ADP-ribosylation factor-like 6 interacting protein"	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.460_462delCAA	16.37:g.18805955_18805957delTTG	ENSP00000306788:p.Gln154del	Somatic	454	1		WXS	Illumina GAIIx	Phase_I	556	244	NM_015161	0	0	0	0	0		In_Frame_Del	DEL	ENST00000304414.7	37	CCDS10572.1																																																																																			.		0.414	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		-	18805954	TTG	-	18805952	7	5	62	1	0	1	0	1	0	0	0	0	943	1606	56	0	157	0	ARL6IP1	16	18805952	In_Frame_Del	DEL	TTG	TCGA-PK-A5HB-01A-11D-A29I-10	3080700	18805952	71548801	1139	13507											
TMC7	79905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	19051758	19051758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctttgagatccgtctgAcaatccttaggtaatgccta	9	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19051758A>C	ENST00000304381.5	+	9	1457	c.1327A>C	c.(1327-1329)Aca>Cca	p.T443P	TMC7_ENST00000569532.1_Missense_Mutation_p.T443P|TMC7_ENST00000421369.3_Missense_Mutation_p.T333P	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	443					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCCGTCTGACAATCCTTAG	0.468																																					p.T443P		.											.	TMC7-93	0			c.A1327C						.						104	94	97					16																	19051758		2197	4300	6497	SO:0001583	missense	79905	exon9			CGTCTGACAATCC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1327A>C	16.37:g.19051758A>C	ENSP00000304710:p.Thr443Pro	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	45	20	NM_024847	0	0	0	0	0	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626336	0.66901	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.73152	-0.72;-0.72	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.83384	2.64	0.51012	D	0.999901	P;D	0.55800	0.933;0.973	P;D	0.64687	0.886;0.928	D	0.85256	0.1047	10	0.52906	T	0.07	.	13.7328	0.62799	1.0:0.0:0.0:0.0	.	443;443	Q7Z402;B3KSZ3	TMC7_HUMAN;.	P	443;333	ENSP00000304710:T443P;ENSP00000397081:T333P	ENSP00000304710:T443P	T	+	1	0	TMC7	18959259	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	6.030000	0.70903	1.646000	0.50622	0.341000	0.21757	ACA	.		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		C	19051758	A	C	19051758	3	2	62	1	0	0	0	0	1	0	0	0	16037	275	10	5	1361	5	TMC7	16	19051758	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	245806	19051758	71302995	1140	13508											
C16orf88	400506	hgsc.bcm.edu	37	chr16	19725705	19725706	+	Frame_Shift_Ins	INS	-	-	T													ggcatctccctcctggtggaINSttttttttttcttcttcacc					rs569337210		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19725705_19725706insT	ENST00000219837.7	-	2	730_731	c.652_653insA	c.(652-654)atcfs	p.I218fs	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	218	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I218fs*41(1)									CTCCTGGTGGATTTTTTTTTTC	0.535																																					p.I218fs		.											.	C16orf88-68	1	Deletion - Frameshift(1)	lung(1)	c.653_654insA						.																																			SO:0001589	frameshift_variant	400506	exon2			TGGTGGATTTTTT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.653dupA	16.37:g.19725715_19725715dupT	ENSP00000219837:p.Ile218fs	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	51	15	NM_001012991	0	0	0	0	0	O43328|Q5FWF3	Frame_Shift_Ins	INS	ENST00000219837.7	37	CCDS42127.1																																																																																			.		0.535	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		T	19725706	-	T	19725705	7	5	62	1	0	1	1	0	0	0	0	0	1846	333	12	0	739	0	C16orf88	16	19725705	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	673947	19725705	70629048	1141	13509											
GPRC5B	51704	ucsc.edu;bcgsc.ca	37	chr16	19883815	19883815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagagcagatggtctcgTcctcctggatgatgaaggca	14	9	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19883815T>C	ENST00000300571.2	-	2	544	c.353A>G	c.(352-354)gAc>gGc	p.D118G	GPRC5B_ENST00000537135.1_Missense_Mutation_p.D144G|GPRC5B_ENST00000569847.1_Missense_Mutation_p.D118G|GPRC5B_ENST00000569479.1_Missense_Mutation_p.D118G|GPRC5B_ENST00000535671.1_Missense_Mutation_p.D118G	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	118					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GATGGTCTCGTCCTCCTGGAT	0.622																																					p.D118G		.											.	GPRC5B-523	0			c.A353G						.						30	27	28					16																	19883815		2197	4300	6497	SO:0001583	missense	51704	exon2			GTCTCGTCCTCCT	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.353A>G	16.37:g.19883815T>C	ENSP00000300571:p.Asp118Gly	Somatic	252	3		WXS	Illumina GAIIx	Phase_I	427	200	NM_016235	0	0	5	6	1	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431114	0.62844	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88124	-2.34;-2.34;-2.34	5.8	4.68	0.58851	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.64997	1.995	0.49798	D	0.999821	D;D	0.76494	0.98;0.999	P;D	0.85130	0.779;0.997	D	0.90484	0.4462	9	.	.	.	.	12.2105	0.54377	0.0:0.0:0.1425:0.8575	.	144;118	B7Z831;Q9NZH0	.;GPC5B_HUMAN	G	118;118;144	ENSP00000300571:D118G;ENSP00000442858:D118G;ENSP00000441775:D144G	.	D	-	2	0	GPRC5B	19791316	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.025000	0.64097	0.982000	0.38575	0.533000	0.62120	GAC	.		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			C	19883815	T	C	19883815	3	2	62	1	0	0	0	0	1	0	0	0	6752	1667	58	4	870	4	GPRC5B	16	19883815	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	158110	19883815	70470938	1142	13510											
PDILT	204474	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr16	20376740	20376740	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacccctcttggagatacttAcagaacatcacaaatacgtc	5	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:20376740A>T	ENST00000302451.4	-	9	1486		c.e9+1			NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed						cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGAGATACTTACAGAACATCA	0.433																																					.		.											.	PDILT-153	0			c.1237+2T>A						.						149	138	142					16																	20376740		2203	4300	6503	SO:0001630	splice_region_variant	204474	exon10			ATACTTACAGAAC		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1237+1T>A	16.37:g.20376740A>T		Somatic	74	0		WXS	Illumina GAIIx	Phase_I	98	44	NM_174924	0	0	0	0	0	Q8IVQ5	Splice_Site	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.296291	0.60086	.	.	ENSG00000169340	ENST00000302451	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7468	0.57285	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDILT	20284241	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	6.283000	0.72646	2.119000	0.64992	0.455000	0.32223	.	.		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	Intron	T	20376740	A	T	20376740	5	4	62	1	0	0	0	0	0	0	1	0	11713	405	14	5	531	5	PDILT	16	20376740	Splice_Site	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	492925	20376740	69978013	1143	13511											
PDILT	204474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20396090	20396090	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtccactttgccaaagccgaTcccattcttgcctttgccca	6	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:20396090T>A	ENST00000302451.4	-	3	534	c.286A>T	c.(286-288)Atc>Ttc	p.I96F	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	96					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAAAGCCGATCCCATTCTTG	0.498																																					p.I96F		.											.	PDILT-153	0			c.A286T						.						330	320	323					16																	20396090		2203	4300	6503	SO:0001583	missense	204474	exon3			AGCCGATCCCATT		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.286A>T	16.37:g.20396090T>A	ENSP00000305465:p.Ile96Phe	Somatic	87	0		WXS	Illumina GAIIx	Phase_I	120	45	NM_174924	0	0	0	0	0	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076813	0.36662	.	.	ENSG00000169340	ENST00000302451	T	0.03920	3.76	5.43	-10.9	0.00192	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.783323	0.11735	N	0.534561	T	0.05502	0.0145	L	0.52126	1.63	0.09310	N	1	D	0.54772	0.968	P	0.50314	0.637	T	0.05550	-1.0878	10	0.87932	D	0	.	5.0032	0.14275	0.0831:0.1128:0.354:0.4501	.	96	Q8N807	PDILT_HUMAN	F	96	ENSP00000305465:I96F	ENSP00000305465:I96F	I	-	1	0	PDILT	20303591	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-1.959000	0.01518	-3.455000	0.00160	-1.119000	0.02030	ATC	.		0.498	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20396090	T	A	20396090	3	1	62	1	0	0	0	0	1	0	0	0	11713	1435	50	5	1508	5	PDILT	16	20396090	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	19350	20396090	69958663	1144	13512											
VWA3A	146177	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	22135022	22135022	+	Frame_Shift_Del	DEL	A	A	-													aatctggggcacagtctgtgAaaaaaggtacctttcttaag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:22135022delA	ENST00000389398.5	+	16	1622	c.1526delA	c.(1525-1527)gaafs	p.E509fs	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	509						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAGTCTGTGAAAAAAGGTAC	0.498																																					p.E509fs		.											.	VWA3A-1	0			c.1526delA						.						103	106	105					16																	22135022		1983	4164	6147	SO:0001589	frameshift_variant	146177	exon16			TCTGTGAAAAAAG	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1526delA	16.37:g.22135022delA	ENSP00000374049:p.Glu509fs	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	118	36	NM_173615	0	0	0	0	0	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	CCDS45441.1																																																																																			.		0.498	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			-	22135022	A	-	22135022	7	5	62	1	0	1	0	1	0	0	0	0	17289	246	9	0	1588	0	VWA3A	16	22135022	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	1738932	22135022	68219731	1145	13513											
COG7	91949	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	23424846	23424846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagtttgcacttcttTcgtatggactggagagtgct	12	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23424846T>C	ENST00000307149.5	-	10	1517	c.1332A>G	c.(1330-1332)cgA>cgG	p.R444R	RN7SKP23_ENST00000517029.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	444					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)		TGCACTTCTTTCGTATGGACT	0.483																																					p.R444R		.											.	COG7-90	0			c.A1332G						.						156	129	138					16																	23424846		2197	4300	6497	SO:0001819	synonymous_variant	91949	exon10			CTTCTTTCGTATG	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.1332A>G	16.37:g.23424846T>C		Somatic	165	2		WXS	Illumina GAIIx	Phase_I	210	93	NM_153603	0	0	18	53	35	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																			.		0.483	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			C	23424846	T	C	23424846	2	2	62	1	0	0	0	0	0	0	0	1	3670	1770	62	4		4	COG7	16	23424846	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1289824	23424846	66929907	1146	13514											
GGA2	23062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23481455	23481455	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagaattctgaatccattCcggtcatacacaatgagagg	9	9	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23481455C>T	ENST00000309859.4	-	15	1564	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	494	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAATCCATTCCGGTCATACA	0.572																																					p.R494R		.											.	GGA2-91	0			c.G1482A						.						61	62	61					16																	23481455		2197	4300	6497	SO:0001819	synonymous_variant	23062	exon15			TCCATTCCGGTCA	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1482G>A	16.37:g.23481455C>T		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	94	36	NM_015044	0	0	35	81	46	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																			.		0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			T	23481455	C	T	23481455	2	4	62	1	0	0	0	0	0	0	0	1	6379	842	30	3		3	GGA2	16	23481455	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	56609	23481455	66873298	1147	13515											
EARS2	124454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23555852	23555852	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccggggcgtctggtggttCcgcaaggcctccttcttcag	13	13	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23555852C>T	ENST00000563459.1	-	3	474	c.468G>A	c.(466-468)cgG>cgA	p.R156R	EARS2_ENST00000449606.1_Silent_p.R156R|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Silent_p.R156R|EARS2_ENST00000564501.1_Silent_p.R156R			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	156					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCTGGTGGTTCCGCAAGGCCT	0.557																																					p.R156R		.											.	EARS2-90	0			c.G468A						.						42	47	46					16																	23555852		1961	4134	6095	SO:0001819	synonymous_variant	124454	exon3			GTGGTTCCGCAAG	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.468G>A	16.37:g.23555852C>T		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	25	10	NM_001083614	0	0	10	23	13	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																			.		0.557	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		T	23555852	C	T	23555852	2	4	62	1	0	0	0	0	0	0	0	1	4892	842	30	3		3	EARS2	16	23555852	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	74397	23555852	66798901	1148	13516											
EARS2	124454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23555917	23555917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaggggtaagcagctcCggtcttcagcagcgcttctg	13	11	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23555917C>T	ENST00000563459.1	-	3	409	c.403G>A	c.(403-405)Gga>Aga	p.G135R	EARS2_ENST00000449606.1_Missense_Mutation_p.G135R|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Missense_Mutation_p.G135R|EARS2_ENST00000564501.1_Missense_Mutation_p.G135R			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	135					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TAAGCAGCTCCGGTCTTCAGC	0.642																																					p.G135R		.											.	EARS2-90	0			c.G403A						.						31	35	34					16																	23555917		1977	4157	6134	SO:0001583	missense	124454	exon3			CAGCTCCGGTCTT	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.403G>A	16.37:g.23555917C>T	ENSP00000456467:p.Gly135Arg	Somatic	36	0		WXS	Illumina GAIIx	Phase_I	46	25	NM_001083614	0	0	24	31	7	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885378	0.72410	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.40476	1.03	5.8	5.8	0.92144	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.123987	0.56097	D	0.000027	T	0.74321	0.3701	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.975	T	0.80233	-0.1467	10	0.87932	D	0	-2.0415	19.0369	0.92982	0.0:1.0:0.0:0.0	.	135;135	Q86YH3;Q5JPH6	.;SYEM_HUMAN	R	135	ENSP00000395196:G135R	ENSP00000343488:G135R	G	-	1	0	EARS2	23463418	0.994000	0.37717	0.921000	0.36526	0.560000	0.35617	4.338000	0.59316	2.742000	0.94016	0.655000	0.94253	GGA	.		0.642	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		T	23555917	C	T	23555917	3	4	62	1	0	0	0	0	1	0	0	0	4892	661	23	1	1196	1	EARS2	16	23555917	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	65	23555917	66798836	1149	13517											
ERN2	10595	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	23706207	23706207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggccctggctgtcagGcccggtgatgagaatatttc	13	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23706207G>A	ENST00000457008.2	-	16	1824	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	ERN2_ENST00000256797.4_Missense_Mutation_p.P696S					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTGTCAGGCCCGGTGATG	0.622																																					p.P696S		.											.	ERN2-322	0			c.C2086T						.						43	43	43					16																	23706207		2197	4300	6497	SO:0001583	missense	10595	exon17			TGTCAGGCCCGGT	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1786C>T	16.37:g.23706207G>A	ENSP00000413812:p.Pro596Ser	Somatic	103	1		WXS	Illumina GAIIx	Phase_I	112	55	NM_033266	0	0	0	0	0		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688586	0.48097	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.63580	-0.05;-0.05	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	N	0.11000	0.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66460	-0.5918	10	0.36615	T	0.2	.	16.9969	0.86370	0.0:0.0:1.0:0.0	.	596;648	E7ETG2;A5YM65	.;.	S	696;596	ENSP00000256797:P696S;ENSP00000413812:P596S	ENSP00000256797:P696S	P	-	1	0	ERN2	23613708	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.341000	0.97041	2.676000	0.91093	0.655000	0.94253	CCT	.		0.622	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			A	23706207	G	A	23706207	3	1	62	1	0	0	0	0	1	0	0	0	5254	1203	42	3	862	3	ERN2	16	23706207	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	150290	23706207	66648546	1150	13518											
IL21R	50615	ucsc.edu;bcgsc.ca	37	chr16	27460153	27460153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgcagaggggccatgcaCctggccctgcagctgtgagg	16	11	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27460153C>G	ENST00000337929.3	+	9	1639	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	IL21R_ENST00000564089.1_Missense_Mutation_p.T389S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.T389S|IL21R_ENST00000395755.1_Missense_Mutation_p.T389S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	389					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGCCATGCACCTGGCCCTGC	0.632			T	BCL6	NHL																																p.T411S		.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R-660	0			c.C1232G						.						60	58	59					16																	27460153		2197	4300	6497	SO:0001583	missense	50615	exon10			CATGCACCTGGCC	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1166C>G	16.37:g.27460153C>G	ENSP00000338010:p.Thr389Ser	Somatic	107	2		WXS	Illumina GAIIx	Phase_I	109	49	NM_181079	0	0	0	0	0	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	2.164	-0.391595	0.04932	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.32988	1.43;1.43;1.43	5.19	-2.58	0.06228	.	1.677020	0.02867	N	0.131041	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.21151	0.033	T	0.17531	-1.0366	10	0.08179	T	0.78	-5.4988	6.1739	0.20433	0.129:0.2953:0.4958:0.0799	.	389	Q9HBE5	IL21R_HUMAN	S	389	ENSP00000338010:T389S;ENSP00000379104:T389S;ENSP00000379103:T389S	ENSP00000338010:T389S	T	+	2	0	IL21R	27367654	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-1.454000	0.02381	-0.348000	0.08286	0.561000	0.74099	ACC	.		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		G	27460153	C	G	27460153	3	3	62	1	0	0	0	0	1	0	0	0	7698	507	18	3	1196	3	IL21R	16	27460153	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3753946	27460153	62894600	1151	13519											
GTF3C1	2975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	27549248	27549248	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcttcccagcatcaacCctggaggaaaagaggagcca	11	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27549248C>A	ENST00000356183.4	-	4	624	c.609G>T	c.(607-609)aaG>aaT	p.K203N	GTF3C1_ENST00000561623.1_Splice_Site_p.K203N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	203					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						CAGCATCAACCCTGGAGGAAA	0.453																																					p.K203N		.											.	GTF3C1-94	0			c.G609T						.						67	66	67					16																	27549248		2197	4300	6497	SO:0001630	splice_region_variant	2975	exon4			ATCAACCCTGGAG	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.609-1G>T	16.37:g.27549248C>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	94	53	NM_001520	0	0	0	0	0	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531079	0.64972	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26957	1.7	5.82	3.88	0.44766	.	0.108809	0.64402	D	0.000008	T	0.40094	0.1103	L	0.44542	1.39	0.40396	D	0.979599	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28364	-1.0046	10	0.62326	D	0.03	.	10.4774	0.44674	0.0:0.7928:0.0:0.2072	.	203;203	Q12789;Q12789-3	TF3C1_HUMAN;.	N	203;201	ENSP00000348510:K203N	ENSP00000348510:K203N	K	-	3	2	GTF3C1	27456749	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	0.749000	0.26320	1.470000	0.48102	0.655000	0.94253	AAG	.		0.453	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Missense_Mutation	A	27549248	C	A	27549248	5	1	62	1	0	0	0	0	0	0	1	0	6899	637	22	3	5856	3	GTF3C1	16	27549248	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	89095	27549248	62805505	1152	13520											
KIAA0556	23247	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	27761402	27761402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgacggggtgaacaggAcccaggatgacatgcatgtc	13	10	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27761402A>G	ENST00000261588.4	+	16	3140	c.3121A>G	c.(3121-3123)Acc>Gcc	p.T1041A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1041						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGTGAACAGGACCCAGGATGA	0.552																																					p.T1041A		.											.	KIAA0556-141	0			c.A3121G						.						81	71	74					16																	27761402		2197	4300	6497	SO:0001583	missense	23247	exon16			AACAGGACCCAGG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3121A>G	16.37:g.27761402A>G	ENSP00000261588:p.Thr1041Ala	Somatic	140	2		WXS	Illumina GAIIx	Phase_I	169	79	NM_015202	0	0	4	7	3	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400637	0.83120	.	.	ENSG00000047578	ENST00000261588	T	0.24723	1.84	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	H	0.95611	3.695	0.46701	D	0.999164	D	0.89917	1.0	D	0.91635	0.999	T	0.75900	-0.3154	10	0.72032	D	0.01	-15.0484	15.0765	0.72080	1.0:0.0:0.0:0.0	.	1041	O60303	K0556_HUMAN	A	1041	ENSP00000261588:T1041A	ENSP00000261588:T1041A	T	+	1	0	KIAA0556	27668903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.128000	0.77217	2.085000	0.62840	0.533000	0.62120	ACC	.		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		G	27761402	A	G	27761402	3	3	62	1	0	0	0	0	1	0	0	0	8210	275	10	4	3183	4	KIAA0556	16	27761402	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	212154	27761402	62593351	1153	13521											
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	28841942	28841942	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctttcctcagggagggGaagtatatccctctgcctca	9	12	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28841942G>A	ENST00000336783.4	+	9	1208	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	ATXN2L_ENST00000340394.8_Silent_p.G347G|ATXN2L_ENST00000325215.6_Silent_p.G347G|ATXN2L_ENST00000382686.4_Silent_p.G347G|ATXN2L_ENST00000570200.1_Silent_p.G347G|ATXN2L_ENST00000564304.1_Silent_p.G347G|ATXN2L_ENST00000395547.2_Silent_p.G347G|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	347					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCAGGGAGGGGAAGTATATCC	0.557																																					p.G347G		.											.	ATXN2L-92	0			c.G1041A						.						38	37	38					16																	28841942		2197	4300	6497	SO:0001819	synonymous_variant	11273	exon9			GGAGGGGAAGTAT		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1041G>A	16.37:g.28841942G>A		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	68	38	NM_148414	0	0	0	0	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	CCDS10641.1																																																																																			.		0.557	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		A	28841942	G	A	28841942	2	1	62	1	0	0	0	0	0	0	0	1	1213	1161	41	3		3	ATXN2L	16	28841942	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1080540	28841942	61512811	1154	13522											
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28848085	28848085	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagctccccttccaccCcccggggaactgaagattgt	9	17	0	2	rs188659783		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28848085C>T	ENST00000336783.4	+	0	3894				ATXN2L_ENST00000340394.8_Missense_Mutation_p.P1041L|ATXN2L_ENST00000325215.6_Silent_p.P1051P|ATXN2L_ENST00000382686.4_Silent_p.P1033P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P1059L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P1065L|ATXN2L_ENST00000395547.2_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTTCCACCCCCCGGGGAAC	0.582													.|||	1	0.000199681	0	0.0014	5008	,	,		15687	0		0	False		,,,				2504	0				p.P1059L		.											.	ATXN2L-92	0			c.C3176T						.						111	96	101					16																	28848085		2197	4300	6497	SO:0001624	3_prime_UTR_variant	11273	exon23			TCCACCCCCCGGG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*499C>T	16.37:g.28848085C>T		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	108	53	NM_017492	0	0	73	132	59	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	13.48	2.249690	0.39797	.	.	ENSG00000168488	ENST00000340394	T	0.52295	0.67	5.23	5.23	0.72850	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	P;P	0.37781	0.608;0.573	B;B	0.35278	0.098;0.199	T	0.52578	-0.8557	8	0.87932	D	0	.	17.5688	0.87928	0.0:1.0:0.0:0.0	.	1059;1041	Q63ZY4;Q8WWM7-4	.;.	L	1041	ENSP00000341459:P1041L	ENSP00000341459:P1041L	P	+	2	0	ATXN2L	28755586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.227000	0.65305	2.442000	0.82660	0.557000	0.71058	CCC	C|0.999;T|0.000		0.582	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		T	28848085	C	T	28848085	1	4	62	0	1	0	0	0	0	0	0	0	1213	623	22	3		3	ATXN2L	16	28848085	3'UTR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6143	28848085	61506668	1155	13523											
ATP2A1	487	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	28913320	28913320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccaccatcgtagctgCtgtggaggagggccgcgcca	13	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28913320C>T	ENST00000357084.3	+	16	2504	c.2237C>T	c.(2236-2238)gCt>gTt	p.A746V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A746V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A621V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	746					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCGTAGCTGCTGTGGAGGAG	0.582																																					p.A746V		.											.	ATP2A1-93	0			c.C2237T						.						141	103	116					16																	28913320		2197	4300	6497	SO:0001583	missense	487	exon16			TAGCTGCTGTGGA		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2237C>T	16.37:g.28913320C>T	ENSP00000349595:p.Ala746Val	Somatic	231	3		WXS	Illumina GAIIx	Phase_I	290	118	NM_004320	0	0	2	2	0	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512799	0.96402	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98512	-4.97;-4.97;-4.97	5.12	5.12	0.69794	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.87180	2.865	0.80722	D	1	D;D;D	0.63880	0.987;0.988;0.993	P;P;D	0.68483	0.885;0.908;0.958	D	0.99780	1.1027	10	0.87932	D	0	.	17.315	0.87221	0.0:1.0:0.0:0.0	.	621;746;746	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	746;746;783;621	ENSP00000349595:A746V;ENSP00000378879:A746V;ENSP00000443101:A621V	ENSP00000349595:A746V	A	+	2	0	ATP2A1	28820821	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.736000	0.84948	2.378000	0.81104	0.561000	0.74099	GCT	.		0.582	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28913320	C	T	28913320	3	4	62	1	0	0	0	0	1	0	0	0	1137	797	28	3	2299	3	ATP2A1	16	28913320	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	65235	28913320	61441433	1156	13524											
CD19	930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28943679	28943679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagagggagataacgCtgtgctgcagtgcctcaagg	13	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28943679C>T	ENST00000324662.3	+	2	145	c.101C>T	c.(100-102)gCt>gTt	p.A34V	CD19_ENST00000567541.1_Missense_Mutation_p.A34V|CD19_ENST00000538922.1_Missense_Mutation_p.A34V			P15391	CD19_HUMAN	CD19 molecule	34	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAGATAACGCTGTGCTGCAG	0.612																																					p.A34V		.											.	CD19-92	0			c.C101T						.						21	24	23					16																	28943679		2194	4300	6494	SO:0001583	missense	930	exon2			ATAACGCTGTGCT		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.101C>T	16.37:g.28943679C>T	ENSP00000313419:p.Ala34Val	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	92	48	NM_001178098	0	0	0	0	0	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443444	0.63067	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.34667	1.35;1.35	5.7	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.397052	0.21484	N	0.073781	T	0.20333	0.0489	N	0.20986	0.625	0.09310	N	1	P;P	0.42078	0.728;0.77	B;B	0.36030	0.137;0.216	T	0.06844	-1.0804	10	0.27785	T	0.31	-4.6808	8.0573	0.30612	0.0:0.8114:0.0:0.1886	.	34;34	F5H635;P15391	.;CD19_HUMAN	V	34;19;34	ENSP00000437940:A34V;ENSP00000313419:A34V	ENSP00000313419:A34V	A	+	2	0	CD19	28851180	0.001000	0.12720	0.005000	0.12908	0.193000	0.23685	0.284000	0.18864	0.736000	0.32559	0.563000	0.77884	GCT	.		0.612	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			T	28943679	C	T	28943679	3	4	62	1	0	0	0	0	1	0	0	0	2980	797	28	3	107	3	CD19	16	28943679	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	30359	28943679	61411074	1157	13525											
CD19	930	ucsc.edu;bcgsc.ca	37	chr16	28946768	28946768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagccccttccccctagtacTatggcactggctgctgagga	10	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28946768T>C	ENST00000324662.3	+	5	883	c.839T>C	c.(838-840)cTa>cCa	p.L280P	CD19_ENST00000567541.1_Missense_Mutation_p.L280P|CD19_ENST00000538922.1_Missense_Mutation_p.L280P			P15391	CD19_HUMAN	CD19 molecule	280					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCTAGTACTATGGCACTGG	0.542																																					p.L280P		.											.	CD19-92	0			c.T839C						.						216	166	183					16																	28946768		2197	4300	6497	SO:0001583	missense	930	exon5			TAGTACTATGGCA		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.839T>C	16.37:g.28946768T>C	ENSP00000313419:p.Leu280Pro	Somatic	125	2		WXS	Illumina GAIIx	Phase_I	160	79	NM_001178098	0	0	0	0	0	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217088	0.39201	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.39229	1.09;1.09	5.05	5.05	0.67936	.	0.550325	0.15014	N	0.285372	T	0.40932	0.1137	L	0.36672	1.1	0.09310	N	0.999991	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.31052	-0.9957	10	0.72032	D	0.01	-1.9333	11.1789	0.48616	0.0:0.0:0.0:1.0	.	280;280	F5H635;P15391	.;CD19_HUMAN	P	280;87;280;129	ENSP00000437940:L280P;ENSP00000313419:L280P	ENSP00000313419:L280P	L	+	2	0	CD19	28854269	0.402000	0.25311	0.007000	0.13788	0.462000	0.32619	2.134000	0.42102	1.893000	0.54813	0.260000	0.18958	CTA	.		0.542	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			C	28946768	T	C	28946768	3	2	62	1	0	0	0	0	1	0	0	0	2980	1522	53	4	857	4	CD19	16	28946768	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	3089	28946768	61407985	1158	13526											
C16orf53	79447	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	29827951	29827951	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggctctggccgtggaggaTaccggaggcccctctgcctc	14	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29827951T>A	ENST00000320330.6	+	1	667	c.105T>A	c.(103-105)gaT>gaA	p.D35E	PAGR1_ENST00000609618.1_Missense_Mutation_p.D35E|AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	35						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCGTGGAGGATACCGGAGGCC	0.711											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D35E		.											.	.	0			c.T105A						.						7	8	8					16																	29827951		2135	4228	6363	SO:0001583	missense	79447	exon1			GGAGGATACCGGA	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.105T>A	16.37:g.29827951T>A	ENSP00000326519:p.Asp35Glu	Somatic	49	1	812	WXS	Illumina GAIIx	Phase_I	57	23	NM_024516	0	0	22	46	24	A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866105	0.51588	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.37	-1.19	0.09585	.	0.107341	0.64402	D	0.000009	T	0.19604	0.0471	L	0.29908	0.895	0.29748	N	0.83656	P	0.35507	0.506	B	0.35470	0.203	T	0.17501	-1.0367	9	0.24483	T	0.36	-19.3855	6.0324	0.19686	0.1374:0.4608:0.0:0.4018	.	35	Q9BTK6	PA1_HUMAN	E	35	.	ENSP00000326519:D35E	D	+	3	2	C16orf53	29735452	0.000000	0.05858	0.978000	0.43139	0.142000	0.21351	-0.529000	0.06186	-0.184000	0.10567	0.482000	0.46254	GAT	.		0.711	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		A	29827951	T	A	29827951	3	1	62	1	0	0	0	0	1	0	0	0	1823	1403	49	5	107	5	C16orf53	16	29827951	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	881183	29827951	60526802	1159	13527											
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	29994580	29994580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagaaggccctgaagCccgggagatggccatgatgc	17	9	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29994580C>T	ENST00000308893.4	+	12	2230	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	TAOK2_ENST00000543033.1_Missense_Mutation_p.A396V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A396V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A223V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	396	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCCCTGAAGCCCGGGAGATG	0.617																																					p.A396V		.											.	TAOK2-521	0			c.C1187T						.						46	42	43					16																	29994580		2197	4300	6497	SO:0001583	missense	9344	exon12			CTGAAGCCCGGGA	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1187C>T	16.37:g.29994580C>T	ENSP00000310094:p.Ala396Val	Somatic	49	0		WXS	Illumina GAIIx	Phase_I	45	19	NM_004783	0	0	24	47	23	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825369	0.32237	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71341	-0.56;-0.51;-0.52	5.24	5.24	0.73138	.	0.204155	0.43579	D	0.000551	T	0.55625	0.1932	N	0.14661	0.345	0.29891	N	0.825189	B;B;P;B;B	0.36392	0.183;0.328;0.551;0.018;0.005	B;B;B;B;B	0.38683	0.058;0.079;0.279;0.02;0.017	T	0.55909	-0.8066	9	.	.	.	.	14.3421	0.66633	0.0:1.0:0.0:0.0	.	587;223;396;396;396	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	396	ENSP00000310094:A396V;ENSP00000440336:A396V;ENSP00000279394:A396V	.	A	+	2	0	TAOK2	29902081	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	3.549000	0.53681	2.454000	0.82982	0.563000	0.77884	GCC	.		0.617	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29994580	C	T	29994580	3	4	62	1	0	0	0	0	1	0	0	0	15595	739	26	3	1229	3	TAOK2	16	29994580	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	166629	29994580	60360173	1160	13528			2	60		6	6	8072	N	C_A	5.9663e-05
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	29994973	29994973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccactttgccaccatccgAaccgcctccctggtgagtgt	9	16	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29994973A>G	ENST00000308893.4	+	13	2453	c.1410A>G	c.(1408-1410)cgA>cgG	p.R470R	TAOK2_ENST00000543033.1_Silent_p.R470R|TAOK2_ENST00000279394.3_Silent_p.R470R|TAOK2_ENST00000416441.2_Silent_p.R297R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCACCATCCGAACCGCCTCCC	0.592																																					p.R470R		.											.	TAOK2-521	0			c.A1410G						.						139	152	148					16																	29994973		2197	4300	6497	SO:0001819	synonymous_variant	9344	exon13			CATCCGAACCGCC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1410A>G	16.37:g.29994973A>G		Somatic	55	0		WXS	Illumina GAIIx	Phase_I	57	27	NM_004783	0	0	0	0	0	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																			.		0.592	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		G	29994973	A	G	29994973	2	3	62	1	0	0	0	0	0	0	0	1	15595	233	9	4		4	TAOK2	16	29994973	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	393	29994973	60359780	1161	13529			2	60		6	6	8072	N	C_A	5.9663e-05
TAOK2	8479	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30002105	30002105	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttgttcatcttccccagCtgcggcttgatgagacccag	11	12	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002105C>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Splice_Site_p.L816M	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTTCCCCAGCTGCGGCTTGA	0.587																																					p.L816M		.											.	TAOK2-521	0			c.C2446A						.						38	44	42					16																	30002105		2196	4295	6491	SO:0001628	intergenic_variant	9344	exon18			CCCCAGCTGCGGC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002105C>A		Somatic	41	1		WXS	Illumina GAIIx	Phase_I	22	10	NM_004783	0	0	2	2	0	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898348	0.33535	.	.	ENSG00000149930	ENST00000279394	T	0.72835	-0.69	4.87	2.86	0.33363	.	.	.	.	.	T	0.80276	0.4593	M	0.82056	2.57	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.77482	-0.2571	8	.	.	.	.	5.2543	0.15539	0.1652:0.6626:0.0:0.1721	.	816	Q9UL54-2	.	M	816	ENSP00000279394:L816M	.	L	+	1	2	TAOK2	29909606	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	3.866000	0.56040	0.617000	0.30160	0.563000	0.77884	CTG	.		0.587	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		A	30002105	C	A	30002105	1	1	62	0	1	0	0	0	0	0	0	0	15595	811	28	3		3	TAOK2	16	30002105	IGR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7132	30002105	60352648	1162	13530			2	60		6	6	8072	N	C_A	5.9663e-05
TAOK2	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30002194	30002194	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaacgcttaccagagCaagatcaagatccgcacaga	8	13	2	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002194C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.S845S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTACCAGAGCAAGATCAAGA	0.637																																					p.S845S		.											.	TAOK2-521	0			c.C2535T						.						53	57	56					16																	30002194		2197	4300	6497	SO:0001628	intergenic_variant	9344	exon18			CCAGAGCAAGATC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002194C>T		Somatic	71	0		WXS	Illumina GAIIx	Phase_I	71	28	NM_004783	0	0	22	40	18	H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	CCDS10664.1																																																																																			.		0.637	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		T	30002194	C	T	30002194	1	4	62	0	1	0	0	0	0	0	0	0	15595	709	25	3		3	TAOK2	16	30002194	IGR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	89	30002194	60352559	1163	13531			2	60		6	6	8072	N	C_A	5.9663e-05
TAOK2	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30002536	30002536	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgctgcccagggctatCctgctccaccccctgcccca	8	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002536C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.P933S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAGGGCTATCCTGCTCCACC	0.692																																					p.P933S		.											.	TAOK2-521	0			c.C2797T						.						48	50	49					16																	30002536		2197	4300	6497	SO:0001628	intergenic_variant	9344	exon19			GGCTATCCTGCTC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002536C>T		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	160	61	NM_004783	0	0	20	46	26	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	c	9.923	1.212593	0.22289	.	.	ENSG00000149930	ENST00000279394	T	0.73469	-0.75	5.0	5.0	0.66597	.	.	.	.	.	T	0.58722	0.2142	N	0.20685	0.6	0.80722	D	1	B	0.19331	0.035	B	0.18871	0.023	T	0.54146	-0.8337	8	.	.	.	.	12.8056	0.57612	0.1644:0.8356:0.0:0.0	.	933	Q9UL54-2	.	S	933	ENSP00000279394:P933S	.	P	+	1	0	TAOK2	29910037	1.000000	0.71417	0.963000	0.40424	0.492000	0.33523	2.953000	0.49105	2.324000	0.78689	0.645000	0.84053	CCT	.		0.692	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		T	30002536	C	T	30002536	1	4	62	0	1	0	0	0	0	0	0	0	15595	855	30	3		3	TAOK2	16	30002536	IGR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	342	30002536	60352217	1164	13532			2	60		6	6	8072	N	C_A	5.9663e-05
TAOK2	8479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	30002651	30002651	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagcctggcgtcagccgtCtctgctggctcccccaggcc	11	19	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002651C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.S971F	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGTCAGCCGTCTCTGCTGGCT	0.711																																					p.S971F		.											.	TAOK2-521	0			c.C2912T						.						13	16	15					16																	30002651		2180	4248	6428	SO:0001628	intergenic_variant	9344	exon19			AGCCGTCTCTGCT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002651C>T		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	102	45	NM_004783	0	0	17	39	22	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.118878	0.37436	.	.	ENSG00000149930	ENST00000279394	T	0.70631	-0.5	4.83	4.83	0.62350	.	.	.	.	.	T	0.50854	0.1640	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.46541	-0.9184	8	.	.	.	.	16.7132	0.85391	0.0:1.0:0.0:0.0	.	971	Q9UL54-2	.	F	971	ENSP00000279394:S971F	.	S	+	2	0	TAOK2	29910152	.	.	0.922000	0.36590	0.967000	0.64934	.	.	2.230000	0.72887	0.645000	0.84053	TCT	.		0.711	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		T	30002651	C	T	30002651	1	4	62	0	1	0	0	0	0	0	0	0	15595	913	32	3		3	TAOK2	16	30002651	IGR	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	115	30002651	60352102	1165	13533			2	60		6	6	8072	N	C_A	5.9663e-05
TBC1D10B	26000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30369775	30369775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctcgtggatggcccgGgacccatgcagtcgccgtga	14	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30369775G>A	ENST00000409939.3	-	9	1997	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	639					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)			GGATGGCCCGGGACCCATGCA	0.692																																					p.S639S		.											.	.	0			c.C1917T						.						14	15	14					16																	30369775		2192	4290	6482	SO:0001819	synonymous_variant	26000	exon9			GGCCCGGGACCCA	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.1917C>T	16.37:g.30369775G>A		Somatic	45	0		WXS	Illumina GAIIx	Phase_I	94	45	NM_015527	0	0	27	56	29	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	CCDS10676.2																																																																																			.		0.692	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		A	30369775	G	A	30369775	2	1	62	1	0	0	0	0	0	0	0	1	15646	1219	43	3		3	TBC1D10B	16	30369775	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	367124	30369775	59984978	1166	13534											
ZNF771	51333	hgsc.bcm.edu	37	chr16	30429083	30429083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacgcacacgggcgagCggccctacgagtgccccgag	15	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30429083C>T	ENST00000319296.5	+	3	726	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	SNORA42_ENST00000362917.1_RNA|ZNF771_ENST00000434417.1_Missense_Mutation_p.R117W|ZNF771_ENST00000566625.1_Intron			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CACGGGCGAGCGGCCCTACGA	0.716																																					p.R117W		.											.	.	0			c.C349T						.						3	3	3					16																	30429083		1627	3523	5150	SO:0001583	missense	51333	exon3			GGCGAGCGGCCCT	BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"Zinc fingers, C2H2-type"	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.349C>T	16.37:g.30429083C>T	ENSP00000323945:p.Arg117Trp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	5	NM_001142305	0	0	2	3	1	Q8TAQ7|Q9NYI6	Missense_Mutation	SNP	ENST00000319296.5	37	CCDS45460.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196014	0.78902	.	.	ENSG00000179965	ENST00000434417;ENST00000319296	T;T	0.20332	2.08;2.08	5.17	5.17	0.71159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001568	T	0.46678	0.1405	M	0.82517	2.595	0.34619	D	0.718398	D	0.89917	1.0	D	0.81914	0.995	T	0.63642	-0.6591	10	0.87932	D	0	-13.1658	9.7239	0.40320	0.0:0.905:0.0:0.095	.	117	Q7L3S4	ZN771_HUMAN	W	117	ENSP00000416197:R117W;ENSP00000323945:R117W	ENSP00000323945:R117W	R	+	1	2	ZNF771	30336584	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.376000	0.07465	2.413000	0.81919	0.491000	0.48974	CGG	.		0.716	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434612.2	NM_016643		T	30429083	C	T	30429083	3	4	62	1	0	0	0	0	1	0	0	0	18192	759	27	1	355	1	ZNF771	16	30429083	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	59308	30429083	59925670	1167	13535											
ZNF785	146540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30594019	30594019	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgctgcaggagcggtggatCcaccgatgggcttccagggc	16	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30594019C>T	ENST00000395216.2	-	3	1239	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	ZNF785_ENST00000470110.1_Nonsense_Mutation_p.W345*|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGCGGTGGATCCACCGATGGG	0.657																																					p.W360X		.											.	ZNF785-91	0			c.G1080A						.						55	60	58					16																	30594019		2197	4300	6497	SO:0001587	stop_gained	146540	exon3			GTGGATCCACCGA	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1080G>A	16.37:g.30594019C>T	ENSP00000378642:p.Trp360*	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	102	40	NM_152458	0	0	0	8	8	O75701|Q8IW91|Q8WV14|Q96MN0	Nonsense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	37	6.508169	0.97624	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	.	.	.	4.25	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	5.1011	0.14760	0.2087:0.6857:0.0:0.1055	.	.	.	.	X	345;325;360	.	ENSP00000378642:W360X	W	-	3	0	ZNF785	30501520	0.000000	0.05858	0.300000	0.25030	0.877000	0.50540	-1.308000	0.02730	0.998000	0.38996	0.644000	0.83932	TGG	.		0.657	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		T	30594019	C	T	30594019	4	4	62	1	0	0	0	0	0	1	0	0	18205	856	30	3	141	3	ZNF785	16	30594019	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	164936	30594019	59760734	1168	13536											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30745920	30745920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtggccagcaagcagaCtcatattctggagcaggtaa	12	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30745920C>T	ENST00000262518.4	+	31	7098	c.6713C>T	c.(6712-6714)aCt>aTt	p.T2238I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2176I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2080I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2238	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)			AGCAAGCAGACTCATATTCTG	0.483																																					p.T2238I		.											.	SRCAP-94	0			c.C6713T						.						109	103	105					16																	30745920		2197	4300	6497	SO:0001583	missense	10847	exon31			AGCAGACTCATAT	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.6713C>T	16.37:g.30745920C>T	ENSP00000262518:p.Thr2238Ile	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	204	87	NM_006662	0	0	8	16	8	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044257	0.55110	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.08193	3.12;3.12;3.12	6.04	6.04	0.98038	.	0.225343	0.31507	N	0.007537	T	0.14657	0.0354	N	0.05078	-0.115	0.47905	D	0.999548	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.38200	-0.9672	10	0.52906	T	0.07	-15.7202	19.3663	0.94464	0.0:1.0:0.0:0.0	.	2176;2238	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2238;2176;2080	ENSP00000262518:T2238I;ENSP00000378499:T2176I;ENSP00000343042:T2080I	ENSP00000262518:T2238I	T	+	2	0	SRCAP	30653421	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.998000	0.76277	2.873000	0.98535	0.563000	0.77884	ACT	.		0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30745920	C	T	30745920	3	4	62	1	0	0	0	0	1	0	0	0	15182	565	20	3	6827	3	SRCAP	16	30745920	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	151901	30745920	59608833	1169	13537											
ORAI3	93129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30964661	30964661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattgaagctgtgagcaaCatccacaacctcaactctgt	6	13	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30964661C>T	ENST00000318663.4	+	2	608	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Silent_p.N128N	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	128					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CTGTGAGCAACATCCACAACC	0.602											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N128N		.											.	ORAI3-68	0			c.C384T						.						111	105	107					16																	30964661		2197	4300	6497	SO:0001819	synonymous_variant	93129	exon2			GAGCAACATCCAC	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.384C>T	16.37:g.30964661C>T		Somatic	172	0	821	WXS	Illumina GAIIx	Phase_I	199	70	NM_152288	0	0	55	74	19	Q96BI8	Silent	SNP	ENST00000318663.4	37	CCDS10697.1																																																																																			.		0.602	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		T	30964661	C	T	30964661	2	4	62	1	0	0	0	0	0	0	0	1	11298	477	17	3		3	ORAI3	16	30964661	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	218741	30964661	59390092	1170	13538											
SETD1A	9739	bcgsc.ca	37	chr16	30990658	30990658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccggagccccctccagCcacaccgccgcaggccaagt	10	21	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30990658C>T	ENST00000262519.8	+	14	4237	c.3551C>T	c.(3550-3552)gCc>gTc	p.A1184V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1184	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCCCTCCAGCCACACCGCCG	0.692																																					p.A1184V		.											.	SETD1A-93	0			c.C3551T						.						16	21	19					16																	30990658		2178	4264	6442	SO:0001583	missense	9739	exon14			CTCCAGCCACACC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3551C>T	16.37:g.30990658C>T	ENSP00000262519:p.Ala1184Val	Somatic	38	1		WXS	Illumina GAIIx	Phase_I	148	71	NM_014712	0	0	9	19	10	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	4.422	0.078099	0.08485	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	5.03	3.03	0.35002	.	0.386521	0.24187	N	0.040749	T	0.81702	0.4878	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64824	-0.6316	10	0.06494	T	0.89	.	6.8105	0.23802	0.0:0.6943:0.0:0.3057	.	1184	O15047	SET1A_HUMAN	V	1184	ENSP00000262519:A1184V	ENSP00000262519:A1184V	A	+	2	0	SETD1A	30898159	0.029000	0.19370	0.028000	0.17463	0.005000	0.04900	1.039000	0.30266	0.483000	0.27608	0.557000	0.71058	GCC	.		0.692	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30990658	C	T	30990658	3	4	62	1	0	0	0	0	1	0	0	0	14175	739	26	3	3601	3	SETD1A	16	30990658	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	25997	30990658	59364095	1171	13539											
ZNF668	79759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31072498	31072498	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgcgcaagtcgctgGcactcaagaaggccttggga	13	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31072498G>C	ENST00000538906.1	-	3	2535	c.1751C>G	c.(1750-1752)gCc>gGc	p.A584G	ZNF668_ENST00000539836.3_Missense_Mutation_p.A607G|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584G|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584G|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607G|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584G	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					p.A607G	Colon(181;1111 1980 5060 10512 25785)	.											.	ZNF668-585	0			c.C1820G						.						62	64	64					16																	31072498		2197	4300	6497	SO:0001583	missense	79759	exon4			TCGCTGGCACTCA		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>G	16.37:g.31072498G>C	ENSP00000440149:p.Ala584Gly	Somatic	93	0		WXS	Illumina GAIIx	Phase_I	155	64	NM_001172669	0	0	13	16	3	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023194	0.54683	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.25754	0.0627	N	0.14661	0.345	0.46954	D	0.999264	D	0.56968	0.978	P	0.50617	0.646	T	0.01621	-1.1310	10	0.28530	T	0.3	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	G	607;584;584;584;584	ENSP00000442573:A607G;ENSP00000441349:A584G;ENSP00000440149:A584G;ENSP00000378434:A584G;ENSP00000300849:A584G	ENSP00000300849:A584G	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC	.		0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		C	31072498	G	C	31072498	3	2	62	1	0	0	0	0	1	0	0	0	18123	1203	42	3	112	3	ZNF668	16	31072498	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	81840	31072498	59282255	1172	13540											
ITGAX	3687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31371245	31371245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtgcttctcccagttttCcctgatgcagttctccaaca	7	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31371245C>T	ENST00000268296.4	+	7	687	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S189F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	189	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)			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						TCCCAGTTTTCCCTGATGCAG	0.572																																					p.S189F		.											.	ITGAX-229	0			c.C566T						.						89	92	91					16																	31371245		2197	4300	6497	SO:0001583	missense	3687	exon7			AGTTTTCCCTGAT	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.566C>T	16.37:g.31371245C>T	ENSP00000268296:p.Ser189Phe	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	81	40	NM_000887	0	0	0	0	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338953	0.60963	.	.	ENSG00000140678	ENST00000268296	T	0.80214	-1.35	4.88	3.93	0.45458	von Willebrand factor, type A (3);	.	.	.	.	D	0.90487	0.7020	M	0.90977	3.165	0.36757	D	0.883073	D	0.89917	1.0	D	0.79108	0.992	D	0.93171	0.6566	9	0.87932	D	0	.	10.8743	0.46902	0.0:0.909:0.0:0.091	.	189	P20702	ITAX_HUMAN	F	189	ENSP00000268296:S189F	ENSP00000268296:S189F	S	+	2	0	ITGAX	31278746	0.880000	0.30214	0.857000	0.33713	0.656000	0.38851	3.775000	0.55349	1.170000	0.42753	0.467000	0.42956	TCC	.		0.572	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31371245	C	T	31371245	3	4	62	1	0	0	0	0	1	0	0	0	7916	855	30	3	592	3	ITGAX	16	31371245	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	298747	31371245	58983508	1173	13541											
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	31471222	31471222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgccgccagtgcgcctgcGcaagacgctggacttggcgc	14	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31471222G>T	ENST00000563544.1	+	2	923	c.377G>T	c.(376-378)cGc>cTc	p.R126L	ARMC5_ENST00000538189.1_Missense_Mutation_p.R158L|ARMC5_ENST00000408912.3_Missense_Mutation_p.R221L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.R126L|ARMC5_ENST00000457010.2_Missense_Mutation_p.R126L|ARMC5_ENST00000412665.2_5'Flank			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	126										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGCGCCTGCGCAAGACGCTG	0.697																																					p.R126L		.											.	ARMC5-24	0			c.G377T						.						28	29	28					16																	31471222		1955	4128	6083	SO:0001583	missense	79798	exon1			GCCTGCGCAAGAC	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.377G>T	16.37:g.31471222G>T	ENSP00000456877:p.Arg126Leu	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	53	24	NM_024742	0	0	2	2	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183847	0.78677	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.67618	0.2912	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.996;0.996;0.996;0.999	P;P;P;P;D	0.67900	0.818;0.87;0.87;0.87;0.954	T	0.63717	-0.6574	9	0.28530	T	0.3	-4.4735	12.9292	0.58276	0.0:0.0:1.0:0.0	.	158;158;221;126;126	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	221;158;126;126	ENSP00000386125:R221L;ENSP00000443995:R158L;ENSP00000268314:R126L;ENSP00000399561:R126L	ENSP00000268314:R126L	R	+	2	0	ARMC5	31378723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.456000	0.44997	2.435000	0.82474	0.561000	0.74099	CGC	.		0.697	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31471222	G	T	31471222	3	4	62	1	0	0	0	0	1	0	0	0	955	1087	38	2	379	2	ARMC5	16	31471222	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	99977	31471222	58883531	1174	13542											
ARMC5	79798	broad.mit.edu	37	chr16	31477963	31477963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggagctggaagaggCcgtgggccgcatccacctgg	19	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31477963C>T	ENST00000563544.1	+	7	3107	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	ARMC5_ENST00000538189.1_Missense_Mutation_p.A886V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A949V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A854V|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.A498V			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	854										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGGAAGAGGCCGTGGGCCGC	0.726																																					p.A854V		.											.	ARMC5-24	0			c.C2561T						.						14	23	20					16																	31477963		2165	4272	6437	SO:0001583	missense	79798	exon6			AAGAGGCCGTGGG	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.2561C>T	16.37:g.31477963C>T	ENSP00000456877:p.Ala854Val	Somatic	53	1		WXS	Illumina GAIIx	Phase_I	197	8	NM_001105247	0	0	12	12	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289619	0.80914	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.43294	2.23;2.26;2.28;0.95	5.07	5.07	0.68467	.	0.239914	0.36555	N	0.002538	T	0.41488	0.1161	N	0.14661	0.345	0.45015	D	0.998033	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.14980	-1.0453	10	0.05620	T	0.96	-12.0534	13.8303	0.63377	0.0:1.0:0.0:0.0	.	886;886;949;854	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	V	949;886;854;498	ENSP00000386125:A949V;ENSP00000443995:A886V;ENSP00000268314:A854V;ENSP00000400183:A498V	ENSP00000268314:A854V	A	+	2	0	ARMC5	31385464	0.973000	0.33851	0.991000	0.47740	0.934000	0.57294	3.054000	0.49908	2.636000	0.89361	0.448000	0.29417	GCC	.		0.726	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		T	31477963	C	T	31477963	3	4	62	1	0	0	0	0	1	0	0	0	955	739	26	3	2897	3	ARMC5	16	31477963	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6741	31477963	58876790	1175	13543											
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	47581450	47581450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taataatggcagcacagagcTacattcgaggtaatttgctg	10	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:47581450T>G	ENST00000323584.5	+	7	725	c.701T>G	c.(700-702)cTa>cGa	p.L234R	PHKB_ENST00000455779.1_Missense_Mutation_p.L227R|PHKB_ENST00000299167.8_Missense_Mutation_p.L234R|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.L227R	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	234					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)				AGCACAGAGCTACATTCGAGG	0.338																																					p.L234R		.											.	PHKB-154	0			c.T701G						.						91	87	88					16																	47581450		2201	4300	6501	SO:0001583	missense	5257	exon7			CAGAGCTACATTC		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.701T>G	16.37:g.47581450T>G	ENSP00000313504:p.Leu234Arg	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	66	29	NM_000293	0	0	0	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984223	0.93044	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90676	-2.71;-2.71	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.068257	0.64402	D	0.000012	D	0.94456	0.8216	M	0.67517	2.055	0.80722	D	1	D;P;D	0.76494	0.999;0.929;0.991	D;P;D	0.75020	0.985;0.838;0.921	D	0.94023	0.7294	10	0.45353	T	0.12	-15.403	16.3021	0.82825	0.0:0.0:0.0:1.0	.	227;234;227	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	R	227;227;234	ENSP00000414345:L227R;ENSP00000313504:L234R	ENSP00000299167:L227R	L	+	2	0	PHKB	46138951	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	7.730000	0.84881	2.326000	0.78906	0.533000	0.62120	CTA	.		0.338	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			G	47581450	T	G	47581450	3	3	62	1	0	0	0	0	1	0	0	0	11884	1522	53	5	786	5	PHKB	16	47581450	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	16103487	47581450	42773303	1176	13544											
BRD7	29117	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50368679	50368679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcatctccagagtccTctctctctctctgccagcag	7	17	4	1	rs145896392		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:50368679T>C	ENST00000394688.3	-	7	989	c.830A>G	c.(829-831)gAg>gGg	p.E277G	BRD7_ENST00000394689.2_Missense_Mutation_p.E277G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	277					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)				TCCAGAGTCCTCTCTCTCTCT	0.468																																					p.E277G		.											.	BRD7-90	0			c.A830G						.						138	139	138					16																	50368679		2198	4300	6498	SO:0001583	missense	29117	exon7			GAGTCCTCTCTCT	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.830A>G	16.37:g.50368679T>C	ENSP00000378180:p.Glu277Gly	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	61	25	NM_013263	0	0	50	74	24	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311223	0.23821	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.34275	1.37;1.37	5.47	4.39	0.52855	.	0.672603	0.16904	N	0.194766	T	0.20780	0.0500	N	0.19112	0.55	0.19300	N	0.999978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13899	-1.0492	10	0.36615	T	0.2	-5.3889	4.5175	0.11943	0.0:0.1766:0.1681:0.6553	.	277;277	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	G	277	ENSP00000378180:E277G;ENSP00000378181:E277G	ENSP00000378180:E277G	E	-	2	0	BRD7	48926180	0.983000	0.35010	0.224000	0.23877	0.729000	0.41735	1.895000	0.39778	1.029000	0.39812	0.528000	0.53228	GAG	.		0.468	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		C	50368679	T	C	50368679	3	2	62	1	0	0	0	0	1	0	0	0	1509	1551	54	4	1172	4	BRD7	16	50368679	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2787229	50368679	39986074	1177	13545											
SALL1	6299	hgsc.bcm.edu	37	chr16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCTGCT													gaggagctgccgccgccgccINSgctgctgctgctgctgctgc					rs113614842|rs199760974|rs372299573	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:51175655_51175656insGCTGCT	ENST00000251020.4	-	2	510_511	c.477_478insAGCAGC	c.(475-480)agcggc>agcAGCAGCggc	p.158_159insSS	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Ins_p.61_62insSS|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629																																					p.G160delinsSSG	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.478_479insAGCAGC						.																																			SO:0001652	inframe_insertion	6299	exon2			CGCCGCCGCTGCT	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.472_477dupAGCAGC	16.37:g.51175656_51175661dupGCTGCT	ENSP00000251020:p.Ser157_Ser158dup	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	165	0	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	In_Frame_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																			-|0.500;GCC|0.250;GCT|0.250		0.629	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		GCTGCT	51175656	-	GCTGCT	51175655	7	5	62	1	0	1	1	0	0	0	0	0	13855	652	23	0	3504	0	SALL1	16	51175655	In_Frame_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	806976	51175655	39179098	1178	13546											
NLRC5	84166	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	57060004	57060004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacttcttcagcgcccaGccatcgcgggagggggccct	12	15	3	0	rs528088895		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57060004G>A	ENST00000262510.6	+	6	1374	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	NLRC5_ENST00000539144.1_Silent_p.Q383Q|NLRC5_ENST00000436936.1_Silent_p.Q383Q|NLRC5_ENST00000308149.7_Silent_p.Q383Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	383	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCAGCGCCCAGCCATCGCGGG	0.617													G|||	1	0.000199681	0	0	5008	,	,		20166	0.001		0	False		,,,				2504	0				p.Q383Q		.											.	NLRC5-159	0			c.G1149A						.						99	108	105					16																	57060004		2198	4300	6498	SO:0001819	synonymous_variant	84166	exon5			CGCCCAGCCATCG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1149G>A	16.37:g.57060004G>A		Somatic	51	1		WXS	Illumina GAIIx	Phase_I	31	27	NM_032206	0	0	0	4	4	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.606475	0.00842	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.69	-0.275	0.12906	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26430	-1.0103	4	.	.	.	.	4.7504	0.13057	0.0806:0.1039:0.2405:0.575	.	.	.	.	T	136	.	.	A	+	1	0	NLRC5	55617505	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.588000	0.23924	-0.111000	0.12001	0.561000	0.74099	GCC	.		0.617	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57060004	G	A	57060004	2	1	62	1	0	0	0	0	0	0	0	1	10509	962	34	3		3	NLRC5	16	57060004	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5884349	57060004	33294749	1179	13547											
NLRC5	84166	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	57060099	57060099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaagtcgcctgtctctGcctccaccatctgcttcctg	8	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57060099G>A	ENST00000262510.6	+	6	1469	c.1244G>A	c.(1243-1245)tGc>tAc	p.C415Y	NLRC5_ENST00000539144.1_Missense_Mutation_p.C415Y|NLRC5_ENST00000436936.1_Missense_Mutation_p.C415Y|NLRC5_ENST00000308149.7_Missense_Mutation_p.C415Y	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	415	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCTGTCTCTGCCTCCACCAT	0.642																																					p.C415Y		.											.	NLRC5-159	0			c.G1244A						.						83	85	84					16																	57060099		2198	4300	6498	SO:0001583	missense	84166	exon5			GTCTCTGCCTCCA	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1244G>A	16.37:g.57060099G>A	ENSP00000262510:p.Cys415Tyr	Somatic	49	1		WXS	Illumina GAIIx	Phase_I	28	20	NM_032206	0	0	0	4	4	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789545	0.70337	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.76060	-0.83;-0.84;-0.99;-0.84	5.21	5.21	0.72293	.	0.000000	0.37623	N	0.002019	D	0.87083	0.6089	M	0.81802	2.56	0.44611	D	0.997589	D;D;D;D	0.89917	1.0;1.0;0.998;0.994	D;D;D;D	0.97110	1.0;1.0;0.994;0.958	D	0.88841	0.3312	10	0.87932	D	0	.	17.7521	0.88438	0.0:0.0:1.0:0.0	.	415;415;415;415	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	Y	415	ENSP00000262510:C415Y;ENSP00000308886:C415Y;ENSP00000389739:C415Y;ENSP00000441727:C415Y	ENSP00000262510:C415Y	C	+	2	0	NLRC5	55617600	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.223000	0.89779	2.427000	0.82271	0.561000	0.74099	TGC	.		0.642	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57060099	G	A	57060099	3	1	62	1	0	0	0	0	1	0	0	0	10509	1319	46	3	1258	3	NLRC5	16	57060099	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	95	57060099	33294654	1180	13548											
NLRC5	84166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	57089359	57089359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcaggttcacaggctGcagcctcagccaggagcacg	13	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57089359G>A	ENST00000262510.6	+	27	3899	c.3674G>A	c.(3673-3675)tGc>tAc	p.C1225Y	NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000436936.1_Missense_Mutation_p.C1225Y|NLRC5_ENST00000308149.7_Intron|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1225					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCACAGGCTGCAGCCTCAGC	0.612																																					p.C1225Y		.											.	NLRC5-159	0			c.G3674A						.						69	58	62					16																	57089359		2198	4300	6498	SO:0001583	missense	84166	exon26			CAGGCTGCAGCCT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3674G>A	16.37:g.57089359G>A	ENSP00000262510:p.Cys1225Tyr	Somatic	138	1		WXS	Illumina GAIIx	Phase_I	103	87	NM_032206	0	0	2	4	2	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650383	0.29336	.	.	ENSG00000140853	ENST00000262510;ENST00000436936;ENST00000327982;ENST00000538110;ENST00000543030	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.7	3.72	0.42706	.	.	.	.	.	T	0.65739	0.2720	M	0.67953	2.075	0.09310	N	1	P;D;P	0.69078	0.911;0.997;0.765	B;D;B	0.65010	0.406;0.931;0.314	T	0.54159	-0.8335	9	0.66056	D	0.02	.	8.8929	0.35446	0.1048:0.0:0.8952:0.0	.	909;1225;1225	Q9H6Y0;Q86WI3-6;Q86WI3	.;.;NLRC5_HUMAN	Y	1225;1225;668;701;494	ENSP00000262510:C1225Y;ENSP00000389739:C1225Y;ENSP00000441597:C701Y;ENSP00000440153:C494Y	ENSP00000262510:C1225Y	C	+	2	0	NLRC5	55646860	0.577000	0.26708	0.466000	0.27168	0.336000	0.28762	2.648000	0.46647	2.417000	0.82017	0.591000	0.81541	TGC	.		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57089359	G	A	57089359	3	1	62	1	0	0	0	0	1	0	0	0	10509	1319	46	3	3772	3	NLRC5	16	57089359	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	29260	57089359	33265394	1181	13549											
CNGB1	1258	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	57993956	57993956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggccccatttcctggggGcgtcctggaggcgctaagca	15	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57993956G>A	ENST00000251102.8	-	10	657	c.597C>T	c.(595-597)cgC>cgT	p.R199R	CNGB1_ENST00000311183.4_Silent_p.R199R|CNGB1_ENST00000564448.1_Silent_p.R193R	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	199	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTTCCTGGGGGCGTCCTGGAG	0.672																																					p.R199R	Colon(156;1293 1853 16336 28962 38659)	.											.	CNGB1-137	0			c.C597T						.						7	9	8					16																	57993956		1895	4068	5963	SO:0001819	synonymous_variant	1258	exon10			CTGGGGGCGTCCT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.597C>T	16.37:g.57993956G>A		Somatic	14	0		WXS	Illumina GAIIx	Phase_I	9	7	NM_001297	0	0	0	0	0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																			.		0.672	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		A	57993956	G	A	57993956	2	1	62	1	0	0	0	0	0	0	0	1	3607	1190	42	3		3	CNGB1	16	57993956	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	904597	57993956	32360797	1182	13550											
CDH16	1014	ucsc.edu;bcgsc.ca	37	chr16	66950187	66950187	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagccatacctgtagctggTactctgcctgctcctctcgg	9	16	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:66950187T>A	ENST00000299752.4	-	4	468	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	CDH16_ENST00000565796.1_Missense_Mutation_p.Y92F|CDH16_ENST00000394055.3_Missense_Mutation_p.Y92F|CDH16_ENST00000568632.1_Missense_Mutation_p.Y92F|CDH16_ENST00000570262.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGTAGCTGGTACTCTGCCTG	0.622																																					p.Y92F		.											.	CDH16-93	0			c.A275T						.						73	65	68					16																	66950187		2200	4300	6500	SO:0001583	missense	1014	exon4			AGCTGGTACTCTG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.275A>T	16.37:g.66950187T>A	ENSP00000299752:p.Tyr92Phe	Somatic	156	2		WXS	Illumina GAIIx	Phase_I	126	101	NM_004062	0	0	0	0	0	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229731	0.39399	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.73152	-0.72;-0.72	4.63	4.63	0.57726	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81365	0.4807	M	0.71871	2.18	0.50313	D	0.999867	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.83275	0.986;0.985;0.996	T	0.83080	-0.0138	10	0.87932	D	0	-14.1346	10.3573	0.43972	0.0:0.0:0.0:1.0	.	92;92;92	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	F	92	ENSP00000377619:Y92F;ENSP00000299752:Y92F	ENSP00000299752:Y92F	Y	-	2	0	CDH16	65507688	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	2.693000	0.47027	1.963000	0.57068	0.496000	0.49642	TAC	.		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		A	66950187	T	A	66950187	3	1	62	1	0	0	0	0	1	0	0	0	3108	1638	57	5	2274	5	CDH16	16	66950187	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	8956231	66950187	23404566	1183	13551											
SLC12A4	6560	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67980895	67980895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagctcccctggatgacaGaaccaacaatggtcaggccc	10	13	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:67980895G>A	ENST00000316341.3	-	17	2326	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F	SLC12A4_ENST00000422611.2_Missense_Mutation_p.S731F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S681F|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S729F|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S723F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S698F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.S729F	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	729					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGATGACAGAACCAACAAT	0.617																																					p.S731F		.											.	SLC12A4-91	0			c.C2192T						.						47	46	47					16																	67980895		2198	4300	6498	SO:0001583	missense	6560	exon16			ATGACAGAACCAA		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2186C>T	16.37:g.67980895G>A	ENSP00000318557:p.Ser729Phe	Somatic	83	2		WXS	Illumina GAIIx	Phase_I	62	48	NM_001145962	0	0	5	20	15	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227504	0.95173	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.17;-3.31	5.76	5.76	0.90799	.	0.052336	0.85682	D	0.000000	D	0.96956	0.9006	M	0.87381	2.88	0.80722	D	1	P;D;D;P;P;P	0.57899	0.904;0.981;0.959;0.916;0.916;0.863	P;P;P;P;P;P	0.61201	0.789;0.779;0.828;0.885;0.834;0.738	D	0.97139	0.9823	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	731;729;698;723;729;729	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	F	731;698;723;729;729	ENSP00000395983:S731F;ENSP00000438334:S698F;ENSP00000445962:S723F;ENSP00000343374:S729F;ENSP00000318557:S729F	ENSP00000318557:S729F	S	-	2	0	SLC12A4	66538396	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	9.807000	0.99171	2.732000	0.93576	0.655000	0.94253	TCT	.		0.617	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67980895	G	A	67980895	3	1	62	1	0	0	0	0	1	0	0	0	14430	942	33	3	1103	3	SLC12A4	16	67980895	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1030708	67980895	22373858	1184	13552											
FUK	197258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	70503129	70503129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcctggtggggaggccCccagagttggggcaaggcga	18	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:70503129C>T	ENST00000288078.6	+	10	1090	c.858C>T	c.(856-858)ccC>ccT	p.P286P	FUK_ENST00000378912.2_Silent_p.P318P|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGGGGAGGCCCCCAGAGTTGG	0.602																																					p.P286P		.											.	FUK-91	0			c.C858T						.						117	121	119					16																	70503129		1963	4128	6091	SO:0001819	synonymous_variant	197258	exon10			GAGGCCCCCAGAG		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.858C>T	16.37:g.70503129C>T		Somatic	90	0		WXS	Illumina GAIIx	Phase_I	66	51	NM_145059	0	0	0	2	2	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																			.		0.602	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70503129	C	T	70503129	2	4	62	1	0	0	0	0	0	0	0	1	6120	610	22	3		3	FUK	16	70503129	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2522234	70503129	19851624	1185	13553											
FUK	197258	hgsc.bcm.edu	37	chr16	70508769	70508769	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtgcgagtggacggCcgccggcccatcggagccag	17	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:70508769C>A	ENST00000288078.6	+	18	2464	c.2232C>A	c.(2230-2232)ggC>ggA	p.G744G	FUK_ENST00000378912.2_Silent_p.G776G|FUK_ENST00000571514.1_Silent_p.G235G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	744						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GAGTGGACGGCCGCCGGCCCA	0.672																																					p.G744G		.											.	FUK-91	0			c.C2232A						.						11	16	14					16																	70508769		2054	4162	6216	SO:0001819	synonymous_variant	197258	exon18			GGACGGCCGCCGG		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.2232C>A	16.37:g.70508769C>A		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	47	39	NM_145059	0	0	0	3	3	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																			.		0.672	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		A	70508769	C	A	70508769	2	1	62	1	0	0	0	0	0	0	0	1	6120	726	26	3		3	FUK	16	70508769	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5640	70508769	19845984	1186	13554											
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	72822586	72822586	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctgctgctgctgctGggggggttgctgagggccca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:72822586delG	ENST00000268489.5	-	10	10261	c.9589delC	c.(9589-9591)cagfs	p.Q3204fs	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3204	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgctgctgctgGGGGGGTTGC	0.657																																					p.Q3197fs		.											.	ZFHX3-72	0			c.9589delC						.						54	64	61					16																	72822586		2196	4296	6492	SO:0001589	frameshift_variant	463	exon10			GCTGCTGGGGGGG	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.9589delC	16.37:g.72822586delG	ENSP00000268489:p.Gln3204fs	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	111	50	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.657	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		-	72822586	G	-	72822586	7	5	62	1	0	1	0	1	0	0	0	0	17682	1357	47	0	1526	0	ZFHX3	16	72822586	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	2313817	72822586	17532167	1187	13555											
WDR59	79726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	74922199	74922199	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgaacatcccggagCcggcaatagtgagccaacct	11	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:74922199C>A	ENST00000262144.6	-	22	2344	c.2214G>T	c.(2212-2214)cgG>cgT	p.R738R		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	738										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATCCCGGAGCCGGCAATAGT	0.532																																					p.R738R		.											.	WDR59-92	0			c.G2214T						.						33	33	33					16																	74922199		2198	4300	6498	SO:0001819	synonymous_variant	79726	exon22			CCGGAGCCGGCAA	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2214G>T	16.37:g.74922199C>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	130	57	NM_030581	0	0	17	35	18	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																			.		0.532	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		A	74922199	C	A	74922199	2	1	62	1	0	0	0	0	0	0	0	1	17357	726	26	3		3	WDR59	16	74922199	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2099613	74922199	15432554	1188	13556											
ZFP1	162239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	75200759	75200759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcctatacatggatgTgatgctggagaattatagca	12	5	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:75200759T>G	ENST00000393430.2	+	3	231	c.107T>G	c.(106-108)gTg>gGg	p.V36G	ZFP1_ENST00000563356.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.V36G|ZFP1_ENST00000332307.4_Missense_Mutation_p.V3G|ZFP1_ENST00000567481.1_Missense_Mutation_p.V36G|ZFP1_ENST00000464850.1_Missense_Mutation_p.V36G|ZFP1_ENST00000568079.1_Intron			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TACATGGATGTGATGCTGGAG	0.468																																					p.V36G	NSCLC(187;1429 2122 10143 20357 42217)	.											.	ZFP1-92	0			c.T107G						.						136	141	139					16																	75200759		2144	4282	6426	SO:0001583	missense	162239	exon3			TGGATGTGATGCT	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.107T>G	16.37:g.75200759T>G	ENSP00000377080:p.Val36Gly	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	167	56	NM_153688	0	0	7	12	5	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322844	0.60634	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.03920	3.76	3.35	3.35	0.38373	Krueppel-associated box (4);	0.000000	0.41001	D	0.000975	T	0.34221	0.0890	H	0.98738	4.315	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.53173	-0.8476	10	0.87932	D	0	-17.3796	10.3559	0.43964	0.0:0.0:0.0:1.0	.	36	Q6P2D0	ZFP1_HUMAN	G	36	ENSP00000377080:V36G	ENSP00000333192:V36G	V	+	2	0	ZFP1	73758260	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.655000	0.67981	1.773000	0.52216	0.260000	0.18958	GTG	.		0.468	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		G	75200759	T	G	75200759	3	3	62	1	0	0	0	0	1	0	0	0	17684	1696	59	5	113	5	ZFP1	16	75200759	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	278560	75200759	15153994	1189	13557											
CHST6	4166	hgsc.bcm.edu	37	chr16	75513043	75513043	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctccacccacgtgccgttGgtgcccagcacgatgccgtt	11	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:75513043G>T	ENST00000332272.4	-	3	863	c.684C>A	c.(682-684)acC>acA	p.T228T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.T228T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGCCGTTGGTGCCCAGCA	0.721																																					p.T228T		.											.	CHST6-90	0			c.C684A						.						20	22	21					16																	75513043		2191	4270	6461	SO:0001819	synonymous_variant	4166	exon3			GCCGTTGGTGCCC	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.684C>A	16.37:g.75513043G>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	98	42	NM_021615	0	0	0	0	0	D3DUK3	Silent	SNP	ENST00000332272.4	37	CCDS10918.1																																																																																			.		0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		T	75513043	G	T	75513043	2	4	62	1	0	0	0	0	0	0	0	1	3415	1335	47	3		3	CHST6	16	75513043	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	312284	75513043	14841710	1190	13558											
PKD1L2	114780	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	81181855	81181855	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgctccttcgcgacccGgggacgggtgttctgaaaga	14	11	2	2	rs373542968		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:81181855G>A	ENST00000525539.1	-	0	4860				PKD1L2_ENST00000533478.1_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						TTCGCGACCCGGGGACGGGTG	0.587																																					.		.											.	PKD1L2-92	0			.						.	G	TRP/ARG	0,3738		0,0,1869	51	53	52		4861	1.7	0.8	16		52	2,8216		0,2,4107	no	missense	PKD1L2	NM_052892.3	101	0,2,5976	AA,AG,GG		0.0243,0.0,0.0167	possibly-damaging	1621/2460	81181855	2,11954	1869	4109	5978			114780	.			CGACCCGGGGACG	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.81181855G>A		Somatic	90	1		WXS	Illumina GAIIx	Phase_I	106	50	.	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																				.		0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81181855	G	A	81181855	1	1	62	0	1	0	0	0	0	0	0	0	12004	1115	39	1		1	PKD1L2	16	81181855	RNA	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5668812	81181855	9172898	1191	13559											
ADAD2	161931	hgsc.bcm.edu	37	chr16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaaagtgcctgggGgcccgcgcccgcgcccgcga	15	19	0	0	rs8044695|rs554488585	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5	7	7		131,131	-1.1	0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	17	16	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84224967	G	A	84224967	3	1	62	1	0	0	0	0	1	0	0	0	232	1232	43	3	133	3	ADAD2	16	84224967	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3043112	84224967	6129786	1192	13560											
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr16	87445168	87445168	+	Missense_Mutation	SNP	G	G	T													tgtttgcagtcctgggcgcgGtgaccagtggccccgcagtt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445168G>T	ENST00000268616.4	-	12	2965	c.2748C>A	c.(2746-2748)caC>caA	p.H916Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	916							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)		CCTGGGCGCGGTGACCAGTGG	0.622																																					p.H916Q		.											.	ZCCHC14-154	0			c.C2748A						.						87	90	89					16																	87445168		2198	4300	6498	SO:0001583	missense	23174	exon12			GGCGCGGTGACCA	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.2748C>A	16.37:g.87445168G>T	ENSP00000268616:p.His916Gln	Somatic	131	0		WXS	Illumina GAIIx	Phase_I	117	51	NM_015144	0	0	12	12	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710289	0.48517	.	.	ENSG00000140948	ENST00000268616	D	0.97811	-4.55	5.31	4.35	0.52113	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.68593	2.085	0.43187	D	0.995019	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-26.1071	14.1144	0.65144	0.073:0.0:0.927:0.0	.	916;916	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	Q	916	ENSP00000268616:H916Q	ENSP00000268616:H916Q	H	-	3	2	ZCCHC14	86002669	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.689000	0.54706	1.358000	0.45922	0.655000	0.94253	CAC	.		0.622	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		T	87445168	G	T	87445168	3	4	62	1	0	0	0	0	1	0	0	0	17631	1252	44	3	109	3	ZCCHC14	16	87445168	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3220201	87445168	2909585	1193	13561	130	3									
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu	37	chr16	87445172	87445173	+	Missense_Mutation	DNP	CC	CC	TT													tgcagtcctgggcgcggtgaCcagtggccccgcagttgtaa							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445172_87445173CC>TT	ENST00000268616.4	-	12	2960_2961	c.2743_2744GG>AA	c.(2743-2745)GGt>AAt	p.G915N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	915							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)		GGCGCGGTGACCAGTGGCCCCG	0.624																																					p.G915N		.											.	ZCCHC14-154	0			c.G2743A						.																																			SO:0001583	missense	23174	exon12			GGTGACCAGTGGC	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.2743_2744delinsTT	16.37:g.87445172_87445173delinsTT	ENSP00000268616:p.Gly915Asn	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	120	18	NM_015144	0	0	0	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	DNP	ENST00000268616.4	37	CCDS10961.1																																																																																			.		0.624	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		TT	87445173	CC	TT	87445172	3	4	62	1	0	0	0	0	1	0	0	0	17631	507	18	3	113	3	ZCCHC14	16	87445172	Missense_Mutation	DNP	CC	TCGA-PK-A5HB-01A-11D-A29I-10	4	87445172	2909581	1194	13562	130	3									
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	87445179	87445179	+	Missense_Mutation	SNP	C	C	A													ctgggcgcggtgaccagtggCcccgcagttgtaacaagata							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445179C>A	ENST00000268616.4	-	12	2954	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	913							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)		TGACCAGTGGCCCCGCAGTTG	0.632																																					p.A913S		.											.	ZCCHC14-154	0			c.G2737T						.						84	84	84					16																	87445179		2198	4300	6498	SO:0001583	missense	23174	exon12			CAGTGGCCCCGCA	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.2737G>T	16.37:g.87445179C>A	ENSP00000268616:p.Ala913Ser	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	131	61	NM_015144	0	0	10	10	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832575	0.50845	.	.	ENSG00000140948	ENST00000268616	T	0.76186	-1.0	5.55	5.55	0.83447	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.204155	0.42294	D	0.000732	T	0.67702	0.2921	L	0.44542	1.39	0.27350	N	0.956266	B;P	0.38729	0.42;0.644	B;B	0.36378	0.143;0.223	T	0.68640	-0.5355	10	0.66056	D	0.02	-30.6972	14.6695	0.68934	0.1453:0.8547:0.0:0.0	.	913;913	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	913	ENSP00000268616:A913S	ENSP00000268616:A913S	A	-	1	0	ZCCHC14	86002680	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.275000	0.43399	2.755000	0.94549	0.655000	0.94253	GCC	.		0.632	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		A	87445179	C	A	87445179	3	1	62	1	0	0	0	0	1	0	0	0	17631	739	26	3	120	3	ZCCHC14	16	87445179	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	7	87445179	2909574	1195	13563	130	3									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-													ccaacggagaggccagagcgGagcctctggcccagaatgga					rs368520732|rs67712719	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	31	24	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599697	GA	-	88599696	7	5	62	1	0	1	0	1	0	0	0	0	17705	1175	41	0	1368	0	ZFPM1	16	88599696	Frame_Shift_Del	DEL	GA	TCGA-PK-A5HB-01A-11D-A29I-10	1154517	88599696	1755057	1196	13564	131	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-													caacggagaggccagagcggAgcctctggcccagaatggag					rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	30	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	AGCCTCTGG	-	88599697	7	5	62	1	0	1	0	1	0	0	0	0	17705	304	11	0	1369	0	ZFPM1	16	88599697	In_Frame_Del	DEL	AGCCTCTGG	TCGA-PK-A5HB-01A-11D-A29I-10	1	88599697	1755056	1197	13565	131	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-													ggagaggccagagcggagccTctggcccagaatggaggcag					rs67322929|rs149145771	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1	1	1					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	27	19	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599701	T	-	88599701	7	5	62	1	0	1	0	1	0	0	0	0	17705	1538	54	0	1373	0	ZFPM1	16	88599701	Frame_Shift_Del	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	4	88599701	1755052	1198	13566	131	4									
ZFPM1	161882	hgsc.bcm.edu	37	chr16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-													agaggccagagcggagcctcTggcccagaatggaggcagca					rs149145771|rs67873604	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	25	19	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			-	88599705	TGG	-	88599703	7	5	62	1	0	1	0	1	0	0	0	0	17705	1580	55	0	1375	0	ZFPM1	16	88599703	In_Frame_Del	DEL	TGG	TCGA-PK-A5HB-01A-11D-A29I-10	2	88599703	1755050	1199	13567	131	4									
GALNS	2588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	88909119	88909119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccgctgacttacatggcGagcacagagggttggcagaa	14	11	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88909119G>A	ENST00000268695.5	-	2	327	c.239C>T	c.(238-240)tCg>tTg	p.S80L	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	80	Catalytic domain.		S -> L (in MPS4A; intermediate form). {ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:9375852}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CTTACATGGCGAGCACAGAGG	0.632																																					p.S80L	GBM(129;1929 2344 25209 33204)	.											.	GALNS-153	0			c.C239T	GRCh37	CM970577	GALNS	M		.						53	46	49					16																	88909119		2193	4297	6490	SO:0001583	missense	2588	exon2			CATGGCGAGCACA	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.239C>T	16.37:g.88909119G>A	ENSP00000268695:p.Ser80Leu	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	111	58	NM_000512	0	0	0	2	2	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069170	0.93950	.	.	ENSG00000141012	ENST00000268695	D	0.98876	-5.2	5.0	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	D	0.99327	1.0908	10	0.87932	D	0	.	18.6415	0.91397	0.0:0.0:1.0:0.0	.	80;80	B2R6P1;P34059	.;GALNS_HUMAN	L	80	ENSP00000268695:S80L	ENSP00000268695:S80L	S	-	2	0	GALNS	87436620	1.000000	0.71417	0.965000	0.40720	0.715000	0.41141	9.484000	0.97940	2.495000	0.84180	0.561000	0.74099	TCG	.		0.632	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			A	88909119	G	A	88909119	3	1	62	1	0	0	0	0	1	0	0	0	6231	1059	37	1	1381	1	GALNS	16	88909119	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	309416	88909119	1445634	1200	13568											
CPNE7	27132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89653121	89653121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatacaagcagaagagacGcagttataagaactcaggag	10	7	1	3	rs376277946		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:89653121G>A	ENST00000268720.5	+	10	1179	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	CPNE7_ENST00000319518.8_Missense_Mutation_p.R275H	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	350					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.R350H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CAGAAGAGACGCAGTTATAAG	0.607																																					p.R350H		.											.	CPNE7-90	1	Substitution - Missense(1)	ovary(1)	c.G1049A						.		HIS/ARG,HIS/ARG	0,4396		0,0,2198	123	110	114		1049,824	3.3	0.7	16		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	350/634,275/559	89653121	1,12995	2198	4300	6498	SO:0001583	missense	27132	exon10			AGAGACGCAGTTA	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1049G>A	16.37:g.89653121G>A	ENSP00000268720:p.Arg350His	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	119	49	NM_014427	0	0	0	1	1		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615694	0.46631	0.0	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.14766	2.51;2.48	4.26	3.3	0.37823	C2 calcium/lipid-binding domain, CaLB (1);	0.052439	0.64402	D	0.000001	T	0.23492	0.0568	L	0.41573	1.285	0.32949	D	0.519462	D;D	0.76494	0.998;0.999	P;P	0.62014	0.897;0.891	T	0.25012	-1.0144	10	0.87932	D	0	-27.522	11.0715	0.48006	0.0944:0.0:0.9056:0.0	.	275;350	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	H	275;350	ENSP00000317374:R275H;ENSP00000268720:R350H	ENSP00000268720:R350H	R	+	2	0	CPNE7	88180622	0.946000	0.32159	0.739000	0.30968	0.091000	0.18340	2.483000	0.45233	0.889000	0.36185	0.550000	0.68814	CGC	.		0.607	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89653121	G	A	89653121	3	1	62	1	0	0	0	0	1	0	0	0	3824	1087	38	1	1087	1	CPNE7	16	89653121	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	744002	89653121	701632	1201	13569											
C17orf97	400566	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	260403	260405	+	In_Frame_Del	DEL	GAA	GAA	-													aaggtgaagaagaaaaaaagGaagaagaagaccaaggggtc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GAA	GAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:260403_260405delGAA	ENST00000571106.1	+	1	276_278	c.270_272delGAA	c.(268-273)aggaag>agg	p.K93del	AC108004.3_ENST00000599026.1_RNA|C17orf97_ENST00000360127.6_In_Frame_Del_p.K93del|AC108004.3_ENST00000466740.2_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	93	Poly-Lys.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						agaaaaaaaggaagaagaagaCC	0.665																																					p.90_91del		.											.	C17orf97-91	0			c.270_272del						.																																			SO:0001651	inframe_deletion	400566	exon1			AAAAAGGAAGAAG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.270_272delGAA	17.37:g.260409_260411delGAA	ENSP00000458320:p.Lys93del	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	20	15	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000571106.1	37																																																																																				.		0.665	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672		-	260405	GAA	-	260403	7	5	62	1	0	1	0	1	0	0	0	0	1899	1165	41	0	272	0	C17orf97	17	260403	In_Frame_Del	DEL	GAA	TCGA-PK-A5HB-01A-11D-A29I-10		260403	80934807	1202	13570											
SHPK	23729	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	3518689	3518689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagcacattgcccccGttgagtgacgcggccacccc	12	17	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:3518689G>A	ENST00000225519.3	-	6	1068	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	322					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CATTGCCCCCGTTGAGTGACG	0.597																																					p.N322N		.											.	SHPK-69	0			c.C966T						.						123	89	101					17																	3518689		2203	4300	6503	SO:0001819	synonymous_variant	23729	exon6			GCCCCCGTTGAGT	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.966C>T	17.37:g.3518689G>A		Somatic	215	0		WXS	Illumina GAIIx	Phase_I	156	121	NM_013276	0	0	1	1	0	B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	CCDS11030.1																																																																																			.		0.597	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			A	3518689	G	A	3518689	2	1	62	1	0	0	0	0	0	0	0	1	14335	1136	40	1		1	SHPK	17	3518689	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3258286	3518689	77676521	1203	13571											
GLTPD2	388323	hgsc.bcm.edu	37	chr17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgctgggaggcccggaCgcgggcgtgcagtgcagcga	21	12	0	0	rs35910358	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1	5008	,	,		11019	1		0.998	False		,,,				2504	1				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2	2	2		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		A	4693342	C	A	4693342	3	1	62	1	0	0	0	0	1	0	0	0	6499	535	19	2	641	2	GLTPD2	17	4693342	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1174653	4693342	76501868	1204	13572											
NLGN2	57555	broad.mit.edu;bcgsc.ca	37	chr17	7311947	7311947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgcctgtgtggttcaccGacaacttggaggcggccgcc	14	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7311947G>A	ENST00000302926.2	+	1	446	c.373G>A	c.(373-375)Gac>Aac	p.D125N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D125N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	125					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GTGGTTCACCGACAACTTGGA	0.697																																					p.D125N		.											.	NLGN2-90	0			c.G373A						.						22	19	20					17																	7311947		2158	4190	6348	SO:0001583	missense	57555	exon1			TTCACCGACAACT	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.373G>A	17.37:g.7311947G>A	ENSP00000305288:p.Asp125Asn	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	88	71	NM_020795	0	0	1	5	4	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.684334	0.29872	.	.	ENSG00000169992	ENST00000302926	T	0.66280	-0.2	3.42	2.45	0.29901	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.28234	0.0697	N	0.02266	-0.62	0.41476	D	0.988138	B	0.12630	0.006	B	0.14023	0.01	T	0.03910	-1.0993	10	0.16896	T	0.51	.	4.4009	0.11386	0.1184:0.0:0.6608:0.2207	.	125	Q8NFZ4	NLGN2_HUMAN	N	125	ENSP00000305288:D125N	ENSP00000305288:D125N	D	+	1	0	NLGN2	7252671	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	2.218000	0.42889	1.035000	0.39972	0.436000	0.28706	GAC	.		0.697	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		A	7311947	G	A	7311947	3	1	62	1	0	0	0	0	1	0	0	0	10501	1058	37	1	375	1	NLGN2	17	7311947	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2618605	7311947	73883263	1205	13573											
C17orf74	201243	broad.mit.edu	37	chr17	7329040	7329040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcataacaccgtgagAtgttgcaatcaataccaaga	8	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7329040A>G	ENST00000333870.3	+	1	107	c.33A>G	c.(31-33)agA>agG	p.R11R	C17orf74_ENST00000574034.1_Silent_p.R11R|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	11						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACACCGTGAGATGTTGCAATC	0.592																																					p.R11R		.											.	C17orf74-90	0			c.A33G						.						191	183	186					17																	7329040		1984	4152	6136	SO:0001819	synonymous_variant	201243	exon1			CGTGAGATGTTGC	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.33A>G	17.37:g.7329040A>G		Somatic	106	0		WXS	Illumina GAIIx	Phase_I	87	4	NM_175734	0	0	3	3	0		Silent	SNP	ENST00000333870.3	37	CCDS42255.1																																																																																			.		0.592	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		G	7329040	A	G	7329040	2	3	62	1	0	0	0	0	0	0	0	1	1885	330	12	4		4	C17orf74	17	7329040	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	17093	7329040	73866170	1206	13574											
TMEM102	284114	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	7339882	7339882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtagaccagccgcacaGctacgtcactgagcacgagg	11	14	2	2	rs141257669	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7339882G>A	ENST00000323206.1	+	3	857	c.584G>A	c.(583-585)aGc>aAc	p.S195N	FGF11_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	195					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CAGCCGCACAGCTACGTCACT	0.577																																					p.S195N		.											.	TMEM102-90	0			c.G584A						.						91	92	92					17																	7339882		2203	4300	6503	SO:0001583	missense	284114	exon3			CGCACAGCTACGT	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.584G>A	17.37:g.7339882G>A	ENSP00000315387:p.Ser195Asn	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	121	9	NM_178518	0	0	1	1	0	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	2.943	-0.218497	0.06101	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.46063	0.88;0.88	5.3	-1.6	0.08426	.	1.333950	0.04808	N	0.434760	T	0.29976	0.0750	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.15578	-1.0432	10	0.27082	T	0.32	-13.1981	5.0408	0.14458	0.4415:0.1477:0.4109:0.0	.	195	Q8N9M5	TM102_HUMAN	N	195	ENSP00000315387:S195N;ENSP00000379815:S195N	ENSP00000315387:S195N	S	+	2	0	TMEM102	7280606	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.151000	0.16283	-0.429000	0.07329	-0.136000	0.14681	AGC	G|1.000;T|0.000		0.577	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		A	7339882	G	A	7339882	3	1	62	1	0	0	0	0	1	0	0	0	16064	971	34	3	590	3	TMEM102	17	7339882	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	10842	7339882	73855328	1207	13575											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	7577018	7577018	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtcctgcttgcttaCctcgcttagtgctccctggg	9	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7577018C>A	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGCTTGCTTACCTCGCTTAGT	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	.	TP53-70225	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	c.919+1G>T	GRCh37	CD920913	TP53	D		.						127	112	117					17																	7577018		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon9	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;	TGCTTACCTCGCT	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.919+1G>T	17.37:g.7577018C>A		Somatic	105	0		WXS	Illumina GAIIx	Phase_I	67	58	NM_000546	0	0	0	7	7	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096662	0.20552	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7577018	C	A	7577018	5	1	62	1	0	0	0	0	0	0	1	0	16429	521	18	3	366	3	TP53	17	7577018	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	237136	7577018	73618192	1208	13576											
GUCY2D	3000	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	7919549	7919549	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgaggacactttctgGctagtgggcagacgcggctt	16	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7919549G>C	ENST00000254854.4	+	18	3315	c.3165G>C	c.(3163-3165)tgG>tgC	p.W1055C		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1055					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)				ACACTTTCTGGCTAGTGGGCA	0.677																																					p.W1055C		.											.	GUCY2D-319	0			c.G3165C						.						33	31	31					17																	7919549		2202	4297	6499	SO:0001583	missense	3000	exon18			TTTCTGGCTAGTG	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.3165G>C	17.37:g.7919549G>C	ENSP00000254854:p.Trp1055Cys	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	65	41	NM_000180	0	0	0	0	0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878690	0.72294	.	.	ENSG00000132518	ENST00000254854	D	0.85484	-1.99	5.17	4.2	0.49525	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.323797	0.22812	N	0.055340	D	0.94430	0.8208	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95228	0.8340	10	0.87932	D	0	.	12.6236	0.56618	0.0822:0.0:0.9178:0.0	.	1055	Q02846	GUC2D_HUMAN	C	1055	ENSP00000254854:W1055C	ENSP00000254854:W1055C	W	+	3	0	GUCY2D	7860274	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.781000	0.85668	1.175000	0.42826	0.462000	0.41574	TGG	.		0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			C	7919549	G	C	7919549	3	2	62	1	0	0	0	0	1	0	0	0	6924	1212	42	3	3231	3	GUCY2D	17	7919549	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	342531	7919549	73275661	1209	13577											
ALOXE3	59344	broad.mit.edu;bcgsc.ca	37	chr17	8013790	8013790	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgctggcggccgtttagGcagtgggtgggggcctccgc	18	11	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8013790G>T	ENST00000448843.2	-	9	1354	c.1014C>A	c.(1012-1014)tgC>tgA	p.C338*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.C470*|ALOXE3_ENST00000380149.1_Nonsense_Mutation_p.C494*	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	338	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCCGTTTAGGCAGTGGGTGG	0.687											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C470X		.											.	ALOXE3-229	0			c.C1410A						.						32	32	32					17																	8013790		2197	4289	6486	SO:0001587	stop_gained	59344	exon9			GTTTAGGCAGTGG	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1014C>A	17.37:g.8013790G>T	ENSP00000400581:p.Cys338*	Somatic	65	2	646	WXS	Illumina GAIIx	Phase_I	61	47	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Nonsense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098567	0.98063	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	.	.	.	4.63	1.37	0.22104	.	0.478268	0.24611	N	0.037053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-23.4622	2.8418	0.05532	0.4143:0.0:0.3841:0.2016	.	.	.	.	X	494;470;338	.	ENSP00000314879:C470X	C	-	3	2	ALOXE3	7954515	0.000000	0.05858	0.567000	0.28434	0.876000	0.50452	0.207000	0.17395	0.571000	0.29365	0.563000	0.77884	TGC	.		0.687	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			T	8013790	G	T	8013790	4	4	62	1	0	0	0	0	0	1	0	0	542	1195	42	3	1153	3	ALOXE3	17	8013790	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	94241	8013790	73181420	1210	13578											
ALOXE3	59344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8017851	8017851	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcttggtggctgagtatcGaacattgggctccatgtaca	12	9	1	1	rs141340759		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8017851G>A	ENST00000448843.2	-	6	971	c.631C>T	c.(631-633)Cga>Tga	p.R211*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.R343*|ALOXE3_ENST00000380149.1_Nonsense_Mutation_p.R367*	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	211	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R211*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GCTGAGTATCGAACATTGGGC	0.532																																					p.R343X		.											.	ALOXE3-229	1	Substitution - Nonsense(1)	skin(1)	c.C1027T						.						182	144	157					17																	8017851		2203	4300	6503	SO:0001587	stop_gained	59344	exon6			AGTATCGAACATT	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.631C>T	17.37:g.8017851G>A	ENSP00000400581:p.Arg211*	Somatic	275	1		WXS	Illumina GAIIx	Phase_I	159	121	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Nonsense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.125584	0.98667	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	.	.	.	5.22	4.18	0.49190	.	0.347911	0.31461	N	0.007617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3578	10.5622	0.45152	0.0:0.0:0.6958:0.3042	.	.	.	.	X	367;343;211	.	ENSP00000314879:R343X	R	-	1	2	ALOXE3	7958576	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	2.739000	0.47409	2.578000	0.87016	0.655000	0.94253	CGA	.		0.532	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			A	8017851	G	A	8017851	4	1	62	1	0	0	0	0	0	1	0	0	542	1066	37	1	1548	1	ALOXE3	17	8017851	Nonsense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4061	8017851	73177359	1211	13579											
ALOXE3	59344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8017917	8017917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggaagccgggcaggtaccGattcccactgctgggggtcg	18	11	0	0	rs149284623		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8017917G>A	ENST00000448843.2	-	6	905	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	ALOXE3_ENST00000318227.3_Missense_Mutation_p.R321W|ALOXE3_ENST00000380149.1_Missense_Mutation_p.R345W	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	189	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCAGGTACCGATTCCCACTG	0.557																																					p.R321W		.											.	ALOXE3-229	0			c.C961T						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	85	76	79		961,565	1.8	1	17	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	321/844,189/712	8017917	2,13004	2203	4300	6503	SO:0001583	missense	59344	exon6			GGTACCGATTCCC	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.565C>T	17.37:g.8017917G>A	ENSP00000400581:p.Arg189Trp	Somatic	126	0		WXS	Illumina GAIIx	Phase_I	57	42	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784920	0.70222	0.0	2.33E-4	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90004	-2.6;-2.6;-2.6	5.22	1.76	0.24704	Lipoxygenase, C-terminal (2);	1.202800	0.05590	N	0.574571	D	0.89904	0.6850	L	0.53249	1.67	0.25626	N	0.986352	D;D;D	0.64830	0.977;0.994;0.994	B;P;P	0.49528	0.2;0.614;0.614	T	0.79200	-0.1901	10	0.72032	D	0.01	-16.1668	12.1047	0.53805	0.0:0.0:0.5582:0.4418	.	321;189;189	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	W	345;321;189	ENSP00000369494:R345W;ENSP00000314879:R321W;ENSP00000400581:R189W	ENSP00000314879:R321W	R	-	1	2	ALOXE3	7958642	0.980000	0.34600	0.996000	0.52242	0.984000	0.73092	1.189000	0.32114	0.624000	0.30286	0.655000	0.94253	CGG	G|1.000;A|0.000		0.557	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			A	8017917	G	A	8017917	3	1	62	1	0	0	0	0	1	0	0	0	542	1057	37	1	1614	1	ALOXE3	17	8017917	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	66	8017917	73177293	1212	13580											
PIK3R5	23533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	8783988	8783988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgaaagtcatgatggGcaggcagagaagggagcaga	15	7	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8783988G>A	ENST00000447110.1	-	19	2735	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P871S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P870S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	871					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTCATGATGGGCAGGCAGAGA	0.647																																					p.P871S	NSCLC(18;589 615 7696 20311 50332)	.											.	PIK3R5-1146	0			c.C2611T						.						63	57	59					17																	8783988		2203	4300	6503	SO:0001583	missense	23533	exon19			TGATGGGCAGGCA	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2611C>T	17.37:g.8783988G>A	ENSP00000392812:p.Pro871Ser	Somatic	67	0		WXS	Illumina GAIIx	Phase_I	57	44	NM_001142633	0	0	0	0	0	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886605	0.51908	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.87491	-2.26	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91768	0.5425	10	0.87932	D	0	-38.6755	18.2477	0.89992	0.0:0.0:1.0:0.0	.	871	Q8WYR1	PI3R5_HUMAN	S	871	ENSP00000392812:P871S	ENSP00000269300:P871S	P	-	1	0	PIK3R5	8724713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.979000	0.93455	2.409000	0.81822	0.561000	0.74099	CCC	.		0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8783988	G	A	8783988	3	1	62	1	0	0	0	0	1	0	0	0	11961	1203	42	3	35	3	PIK3R5	17	8783988	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	766071	8783988	72411222	1213	13581											
MYH13	8735	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	10213064	10213064	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcttcatccttctcaatGaccttgcggtctagctcgga	7	12	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:10213064G>A	ENST00000418404.3	-	33	4903	c.4740C>T	c.(4738-4740)gtC>gtT	p.V1580V	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.V1580V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1580					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						CCTTCTCAATGACCTTGCGGT	0.552																																					p.V1580V		.											.	MYH13-6	0			c.C4740T						.						45	46	46					17																	10213064		2081	4231	6312	SO:0001819	synonymous_variant	8735	exon34			CTCAATGACCTTG	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.4740C>T	17.37:g.10213064G>A		Somatic	127	2		WXS	Illumina GAIIx	Phase_I	67	48	NM_003802	0	0	0	0	0	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																			.		0.552	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	10213064	G	A	10213064	2	1	62	1	0	0	0	0	0	0	0	1	10070	1277	45	3		3	MYH13	17	10213064	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1429076	10213064	70982146	1214	13582											
DNAH9	1770	bcgsc.ca	37	chr17	11607687	11607687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctccaagggagaccgGcagaagattatgactatatg	11	9	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:11607687G>A	ENST00000262442.4	+	25	5387	c.5319G>A	c.(5317-5319)cgG>cgA	p.R1773R	DNAH9_ENST00000454412.2_Silent_p.R1773R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1773	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGAGACCGGCAGAAGATTA	0.507																																					p.R1773R		.											.	DNAH9-168	0			c.G5319A						.						99	93	95					17																	11607687		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon25			AGACCGGCAGAAG	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.5319G>A	17.37:g.11607687G>A		Somatic	138	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			.		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11607687	G	A	11607687	2	1	62	1	0	0	0	0	0	0	0	1	4622	1190	42	3		3	DNAH9	17	11607687	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1394623	11607687	69587523	1215	13583											
TRPV2	51393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	16336945	16336945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgcaggaagaagcagCgggcaggtgtgatgctgacc	19	7	0	3	rs554857511		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:16336945C>T	ENST00000338560.7	+	13	2446	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	TRPV2_ENST00000577397.1_Missense_Mutation_p.R253W	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	683					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAAGAAGCAGCGGGCAGGTGT	0.597													C|||	1	0.000199681	0	0	5008	,	,		21188	0.001		0	False		,,,				2504	0				p.R683W		.											.	TRPV2-91	0			c.C2047T						.						150	129	136					17																	16336945		2203	4300	6503	SO:0001583	missense	51393	exon13			AAGCAGCGGGCAG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2047C>T	17.37:g.16336945C>T	ENSP00000342222:p.Arg683Trp	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	88	68	NM_016113	0	0	9	92	83	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928548	0.18131	.	.	ENSG00000187688	ENST00000338560	D	0.91295	-2.82	5.79	3.72	0.42706	.	0.102760	0.64402	D	0.000003	D	0.93012	0.7776	L	0.52126	1.63	0.44807	D	0.997811	D	0.89917	1.0	D	0.79108	0.992	D	0.92721	0.6191	10	0.87932	D	0	-22.6944	12.5003	0.55952	0.4646:0.5354:0.0:0.0	.	683	Q9Y5S1	TRPV2_HUMAN	W	683	ENSP00000342222:R683W	ENSP00000342222:R683W	R	+	1	2	TRPV2	16277670	0.142000	0.22610	0.915000	0.36163	0.166000	0.22503	0.863000	0.27913	0.707000	0.31934	0.650000	0.86243	CGG	.		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		T	16336945	C	T	16336945	3	4	62	1	0	0	0	0	1	0	0	0	16644	759	27	1	2093	1	TRPV2	17	16336945	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4729258	16336945	64858265	1216	13584											
CCDC144A	9720	hgsc.bcm.edu	37	chr17	16630989	16630989	+	Frame_Shift_Del	DEL	A	A	-													caaaatgagctatctgaaacAaaaaagacaaaattacagtt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:16630989delA	ENST00000360524.8	+	9	2116	c.2040delA	c.(2038-2040)acafs	p.T680fs	CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.T680fs|CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.T400fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.T680fs|CCDC144A_ENST00000443444.2_Frame_Shift_Del_p.T680fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	680																	TATCTGAAACAAAAAAGACAA	0.299																																					p.T680fs		.											.	.	0			c.2040delA						.						2	2	2					17																	16630989		1109	2862	3971	SO:0001589	frameshift_variant	9720	exon9			TGAAACAAAAAAG	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2040delA	17.37:g.16630989delA	ENSP00000353717:p.Thr680fs	Somatic	638	0		WXS	Illumina GAIIx	Phase_I	442	104	NM_014695	0	0	0	0	0	O60311|Q6ZU57	Frame_Shift_Del	DEL	ENST00000360524.8	37	CCDS45621.1																																																																																			.		0.299	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			-	16630989	A	-	16630989	7	5	62	1	0	1	0	1	0	0	0	0	2784	117	5	0	2074	0	CCDC144A	17	16630989	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	294044	16630989	64564221	1217	13585											
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18022386	18022386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctcatgacgcagatgcGcatgggcaagaagaagcggg	15	8	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18022386G>A	ENST00000205890.5	+	2	610	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	91					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCAGATGCGCATGGGCAAG	0.662																																					p.R91H		.											.	MYO15A-97	0			c.G272A						.						12	14	14					17																	18022386		1983	4131	6114	SO:0001583	missense	51168	exon2			AGATGCGCATGGG	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.272G>A	17.37:g.18022386G>A	ENSP00000205890:p.Arg91His	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	161	123	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988323	0.35036	.	.	ENSG00000091536	ENST00000205890	D	0.91521	-2.86	5.05	5.05	0.67936	.	.	.	.	.	T	0.80385	0.4613	L	0.29908	0.895	0.80722	D	1	P	0.44946	0.846	B	0.26517	0.07	T	0.82114	-0.0617	9	0.52906	T	0.07	.	10.1067	0.42537	0.1307:0.0:0.8693:0.0	.	91	Q9UKN7	MYO15_HUMAN	H	91	ENSP00000205890:R91H	ENSP00000205890:R91H	R	+	2	0	MYO15A	17963111	0.968000	0.33430	0.978000	0.43139	0.411000	0.31082	2.808000	0.47963	2.333000	0.79357	0.561000	0.74099	CGC	.		0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18022386	G	A	18022386	3	1	62	1	0	0	0	0	1	0	0	0	10101	1087	38	1	274	1	MYO15A	17	18022386	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1391397	18022386	63172824	1218	13586											
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18025311	18025311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctcatacccactggCtgcgtgtgaccagaccaggg	11	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18025311C>T	ENST00000205890.5	+	2	3535	c.3197C>T	c.(3196-3198)gCt>gTt	p.A1066V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1066					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)					TACCCACTGGCTGCGTGTGAC	0.642																																					p.A1066V		.											.	MYO15A-97	0			c.C3197T						.						91	98	95					17																	18025311		1994	4166	6160	SO:0001583	missense	51168	exon2			CACTGGCTGCGTG	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.3197C>T	17.37:g.18025311C>T	ENSP00000205890:p.Ala1066Val	Somatic	68	0		WXS	Illumina GAIIx	Phase_I	49	34	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	9.971	1.225575	0.22457	.	.	ENSG00000091536	ENST00000205890	D	0.86769	-2.17	4.93	1.49	0.22878	.	.	.	.	.	T	0.72137	0.3423	N	0.14661	0.345	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.58165	-0.7684	9	0.31617	T	0.26	.	3.6817	0.08313	0.194:0.5858:0.0:0.2202	.	1066	Q9UKN7	MYO15_HUMAN	V	1066	ENSP00000205890:A1066V	ENSP00000205890:A1066V	A	+	2	0	MYO15A	17966036	0.014000	0.17966	0.561000	0.28357	0.392000	0.30506	0.746000	0.26275	1.032000	0.39892	0.561000	0.74099	GCT	.		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18025311	C	T	18025311	3	4	62	1	0	0	0	0	1	0	0	0	10101	797	28	3	3199	3	MYO15A	17	18025311	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2925	18025311	63169899	1219	13587											
CCDC144B	284047	hgsc.bcm.edu	37	chr17	18491040	18491040	+	RNA	DEL	T	T	-													gttctaactgtaattttgtcTtttttgtttcagatagctca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18491040delT	ENST00000442583.1	-	0	992							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TAATTTTGTCTTTTTTGTTTC	0.294																																					.		.											.	CCDC144B-70	0			.						.						1	1	1					17																	18491040		18	34	52			284047	.			TTTGTCTTTTTTG	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"coiled-coil domain containing 144B"			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18491040delT		Somatic	555	0		WXS	Illumina GAIIx	Phase_I	407	118	.	0	0	0	0	0	Q6P5Q3|Q8N200	RNA	DEL	ENST00000442583.1	37																																																																																				.		0.294	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		-	18491040	T	-	18491040	6	5	62	0	1	1	0	1	0	0	0	0	2785	1609	56	0		0	CCDC144B	17	18491040	RNA	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	465729	18491040	62704170	1220	13588											
CCDC144NL	339184	ucsc.edu;bcgsc.ca	37	chr17	20799304	20799304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcggagaccccccagccccTccccgcttttctccacccca	5	23	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:20799304T>C	ENST00000327925.5	-	1	149	c.30A>G	c.(28-30)ggA>ggG	p.G10G	RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	10										large_intestine(3)|lung(3)|skin(1)	7						CCCCAGCCCCTCCCCGCTTTT	0.642											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G10G		.											.	CCDC144NL-90	0			c.A30G						.						22	24	23					17																	20799304		2203	4299	6502	SO:0001819	synonymous_variant	339184	exon1			AGCCCCTCCCCGC		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.30A>G	17.37:g.20799304T>C		Somatic	74	3	743	WXS	Illumina GAIIx	Phase_I	46	33	NM_001004306	0	0	0	1	1		Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																			.		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		C	20799304	T	C	20799304	2	2	62	1	0	0	0	0	0	0	0	1	2786	1538	54	4		4	CCDC144NL	17	20799304	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2308264	20799304	60395906	1221	13589											
TMEM199	147007	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26687565	26687565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaggatacaagacatgGtgggactctcagcgacctgg	12	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:26687565G>A	ENST00000292114.3	+	4	479	c.389G>A	c.(388-390)gGt>gAt	p.G130D	CTB-96E2.3_ENST00000591482.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G130D|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000395404.3_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	130						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACAAGACATGGTGGGACTCTC	0.473																																					p.G130D		.											.	TMEM199-68	0			c.G389A						.						104	96	99					17																	26687565		2203	4300	6503	SO:0001583	missense	147007	exon4			GACATGGTGGGAC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.389G>A	17.37:g.26687565G>A	ENSP00000292114:p.Gly130Asp	Somatic	81	1		WXS	Illumina GAIIx	Phase_I	38	33	NM_152464	0	0	2	16	14		Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761587	0.49468	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.30981	1.51;1.51	5.85	2.56	0.30785	.	0.440276	0.27323	N	0.019889	T	0.12774	0.0310	N	0.08118	0	0.25285	N	0.989402	P;B	0.48589	0.912;0.213	B;B	0.43478	0.421;0.061	T	0.10405	-1.0631	10	0.11485	T	0.65	-3.1373	5.2152	0.15338	0.2343:0.1556:0.6101:0.0	.	130;130	E9PBQ3;Q8N511	.;TM199_HUMAN	D	130;130;48	ENSP00000292114:G130D;ENSP00000427614:G130D	ENSP00000292114:G130D	G	+	2	0	TMEM199	23711692	0.025000	0.19082	0.990000	0.47175	0.519000	0.34347	1.057000	0.30492	1.487000	0.48415	-0.140000	0.14226	GGT	.		0.473	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		A	26687565	G	A	26687565	3	1	62	1	0	0	0	0	1	0	0	0	16167	1261	44	3	403	3	TMEM199	17	26687565	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5888261	26687565	54507645	1222	13590											
RAB34	83871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	27041696	27041696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcttcttgctggcagTtaggtagaggttgctgtcat	14	7	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:27041696T>C	ENST00000395245.3	-	10	1371	c.745A>G	c.(745-747)Act>Gct	p.T249A	RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.T249A|RAB34_ENST00000301043.6_Missense_Mutation_p.T249A|RAB34_ENST00000395242.2_Missense_Mutation_p.T250A|RAB34_ENST00000395243.3_Missense_Mutation_p.T241A|PROCA1_ENST00000581289.1_5'Flank|PROCA1_ENST00000301039.2_5'Flank|RAB34_ENST00000450529.1_Missense_Mutation_p.T241A|RAB34_ENST00000447716.1_Missense_Mutation_p.T306A|RAB34_ENST00000415040.2_Missense_Mutation_p.T227A	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	249					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTGCTGGCAGTTAGGTAGAGG	0.547																																					p.T306A	Pancreas(175;216 2049 29940 32498 41589)	.											.	RAB34-227	0			c.A916G						.						104	92	96					17																	27041696		2203	4300	6503	SO:0001583	missense	83871	exon11			TGGCAGTTAGGTA	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.745A>G	17.37:g.27041696T>C	ENSP00000378666:p.Thr249Ala	Somatic	162	1		WXS	Illumina GAIIx	Phase_I	116	94	NM_001144943	0	0	14	14	0	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520273	0.27211	.	.	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245	T;T;T;T;T;T	0.70045	-0.04;0.0;-0.45;0.33;0.0;0.0	5.62	5.62	0.85841	.	0.164894	0.53938	D	0.000052	T	0.47432	0.1445	N	0.24115	0.695	0.28917	N	0.8923490000000001	B;B;B;B;B	0.11235	0.0;0.004;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.002;0.001	T	0.52697	-0.8541	9	0.11794	T	0.64	-16.8334	8.9191	0.35601	0.2588:0.0:0.0:0.7411	.	227;241;264;250;249	E9PEJ9;Q9BZG1-2;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;RAB34_HUMAN	A	306;249;241;227;264;250;249	ENSP00000410403:T306A;ENSP00000301043:T249A;ENSP00000378664:T241A;ENSP00000410279:T227A;ENSP00000378663:T250A;ENSP00000378666:T249A	ENSP00000301043:T249A	T	-	1	0	RAB34	24065823	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.105000	0.31086	2.134000	0.65973	0.460000	0.39030	ACT	.		0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		C	27041696	T	C	27041696	3	2	62	1	0	0	0	0	1	0	0	0	12969	1725	60	4	102	4	RAB34	17	27041696	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	354131	27041696	54153514	1223	13591											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29528059	29528059	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttggggtttttatagaaccTgctttttaatccaagtaagc	9	6	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:29528059T>A	ENST00000358273.4	+	10	1450	c.1067T>A	c.(1066-1068)cTg>cAg	p.L356Q	NF1_ENST00000431387.4_Missense_Mutation_p.L356Q|NF1_ENST00000356175.3_Missense_Mutation_p.L356Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	356					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATAGAACCTGCTTTTTAAT	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.L356Q		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.T1067A						.						65	65	65					17																	29528059		2203	4299	6502	SO:0001583	missense	4763	exon10	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	AGAACCTGCTTTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1067T>A	17.37:g.29528059T>A	ENSP00000351015:p.Leu356Gln	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	36	26	NM_001128147	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219178	0.79464	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.11495	2.77;3.02;3.16;2.77	5.63	5.63	0.86233	Armadillo-type fold (1);	0.068454	0.64402	D	0.000011	T	0.35480	0.0933	M	0.77820	2.39	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.911;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.99;0.718;0.987;0.999;0.999	T	0.10520	-1.0626	10	0.62326	D	0.03	.	15.8344	0.78787	0.0:0.0:0.0:1.0	.	356;356;356;356;356	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	Q	356;356;356;22	ENSP00000412921:L356Q;ENSP00000351015:L356Q;ENSP00000348498:L356Q;ENSP00000389907:L22Q	ENSP00000348498:L356Q	L	+	2	0	NF1	26552185	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.864000	0.69575	2.147000	0.66899	0.482000	0.46254	CTG	.		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29528059	T	A	29528059	3	1	62	1	0	0	0	0	1	0	0	0	10395	1580	55	5	1105	5	NF1	17	29528059	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2486363	29528059	51667151	1224	13592											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29662047	29662047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatggggaagccttgggCaggtattgagtttgctcaaa	13	5	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:29662047C>T	ENST00000358273.4	+	40	6387	c.6004C>T	c.(6004-6006)Cag>Tag	p.Q2002*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1981*|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2002					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGCCTTGGGCAGGTATTGAG	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.Q2002X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.C6004T	GRCh37	CS054215	NF1	S		.						64	57	60					17																	29662047		2203	4300	6503	SO:0001587	stop_gained	4763	exon40	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CTTGGGCAGGTAT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6004C>T	17.37:g.29662047C>T	ENSP00000351015:p.Gln2002*	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	41	28	NM_001042492	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	49	15.313927	0.99829	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	2002;1981;1647	.	ENSP00000348498:Q1981X	Q	+	1	0	NF1	26686173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.322000	0.79097	2.620000	0.88729	0.557000	0.71058	CAG	.		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29662047	C	T	29662047	4	4	62	1	0	0	0	0	0	1	0	0	10395	711	25	3	6223	3	NF1	17	29662047	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	133988	29662047	51533163	1225	13593											
RHOT1	55288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	30535210	30535210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacaagaatacagtattTcacctactgatttctgcagg	6	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:30535210T>C	ENST00000333942.6	+	18	1860	c.1621T>C	c.(1621-1623)Tca>Cca	p.S541P	RHOT1_ENST00000394692.2_Missense_Mutation_p.S541P|RHOT1_ENST00000354266.3_Missense_Mutation_p.S520P|RHOT1_ENST00000545287.2_Missense_Mutation_p.S541P|RHOT1_ENST00000583994.1_Missense_Mutation_p.S414P|RHOT1_ENST00000358365.3_Missense_Mutation_p.S541P|RHOT1_ENST00000581094.1_Missense_Mutation_p.S541P	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	541	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATACAGTATTTCACCTACTGA	0.393																																					p.S541P		.											.	RHOT1-93	0			c.T1621C						.						139	128	132					17																	30535210		2203	4300	6503	SO:0001583	missense	55288	exon18			AGTATTTCACCTA	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1621T>C	17.37:g.30535210T>C	ENSP00000334724:p.Ser541Pro	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	74	53	NM_001033568	0	0	1	62	61	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808719	0.31961	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.23950	1.88;1.88;1.88	5.93	5.93	0.95920	MIRO (1);	0.314188	0.35262	N	0.003325	T	0.25044	0.0608	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.29481	0.245;0.002;0.009;0.007	B;B;B;B	0.33339	0.162;0.005;0.012;0.017	T	0.02975	-1.1087	10	0.42905	T	0.14	-7.3435	16.3766	0.83401	0.0:0.0:0.0:1.0	.	541;541;541;541	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	P	541	ENSP00000351132:S541P;ENSP00000378184:S541P;ENSP00000334724:S541P	ENSP00000334724:S541P	S	+	1	0	RHOT1	27559323	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	5.073000	0.64395	2.263000	0.75096	0.533000	0.62120	TCA	.		0.393	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		C	30535210	T	C	30535210	3	2	62	1	0	0	0	0	1	0	0	0	13388	1783	62	4	1691	4	RHOT1	17	30535210	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	873163	30535210	50660000	1226	13594											
ZNF830	91603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33289639	33289639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagagaatgctgacagcGatgatgagggggaactacag	15	5	0	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:33289639G>A	ENST00000361952.3	+	1	1091	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	352					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGCTGACAGCGATGATGAGGG	0.418																																					p.D352N		.											.	ZNF830-89	0			c.G1054A						.						110	131	124					17																	33289639		2162	4274	6436	SO:0001583	missense	91603	exon1			GACAGCGATGATG	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.1054G>A	17.37:g.33289639G>A	ENSP00000354518:p.Asp352Asn	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	37	27	NM_052857	0	0	1	13	12	Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794767	0.90453	.	.	ENSG00000198783	ENST00000361952	T	0.22539	1.95	6.01	5.01	0.66863	.	0.127206	0.52532	D	0.000066	T	0.33030	0.0849	L	0.36672	1.1	0.50632	D	0.999885	D	0.76494	0.999	D	0.64144	0.922	T	0.00918	-1.1515	10	0.54805	T	0.06	-20.5597	13.4535	0.61184	0.0:0.1556:0.8444:0.0	.	352	Q96NB3	ZN830_HUMAN	N	352	ENSP00000354518:D352N	ENSP00000354518:D352N	D	+	1	0	ZNF830	30313752	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	6.911000	0.75746	2.860000	0.98153	0.655000	0.94253	GAT	.		0.418	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		A	33289639	G	A	33289639	3	1	62	1	0	0	0	0	1	0	0	0	18232	1058	37	1	1056	1	ZNF830	17	33289639	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2754429	33289639	47905571	1227	13595											
UNC45B	146862	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33513335	33513335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagacaacccagtggttggaGatcctccagcggctttgcct	11	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:33513335G>A	ENST00000268876.5	+	20	2650	c.2553G>A	c.(2551-2553)gaG>gaA	p.E851E	UNC45B_ENST00000591048.1_Silent_p.E770E|UNC45B_ENST00000394570.2_Silent_p.E849E|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000378449.1_Silent_p.E770E|UNC45B_ENST00000433649.1_Silent_p.E849E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	851					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)				AGTGGTTGGAGATCCTCCAGC	0.567																																					p.E851E		.											.	UNC45B-157	0			c.G2553A						.						82	82	82					17																	33513335		2203	4300	6503	SO:0001819	synonymous_variant	146862	exon20			GTTGGAGATCCTC	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.2553G>A	17.37:g.33513335G>A		Somatic	118	1		WXS	Illumina GAIIx	Phase_I	70	51	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																			.		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33513335	G	A	33513335	2	1	62	1	0	0	0	0	0	0	0	1	17038	933	33	3		3	UNC45B	17	33513335	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	223696	33513335	47681875	1228	13596											
PSMB3	5691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	36912138	36912138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttctcctacctcagtgCccagcgcctcaagttccggc	7	17	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:36912138C>T	ENST00000225426.4	+	3	282	c.191C>T	c.(190-192)gCc>gTc	p.A64V	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	64					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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						TACCTCAGTGCCCAGCGCCTC	0.468																																					p.A64V		.											.	PSMB3-90	0			c.C191T						.						96	84	88					17																	36912138		2203	4300	6503	SO:0001583	missense	5691	exon3			TCAGTGCCCAGCG	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.191C>T	17.37:g.36912138C>T	ENSP00000225426:p.Ala64Val	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	106	78	NM_002795	0	0	0	0	0	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230642	0.58777	.	.	ENSG00000108294	ENST00000225426	T	0.20069	2.1	5.04	5.04	0.67666	.	0.114479	0.64402	D	0.000014	T	0.19248	0.0462	L	0.50333	1.59	0.48830	D	0.999719	P	0.36733	0.567	B	0.30716	0.119	T	0.04386	-1.0955	10	0.18276	T	0.48	.	17.1345	0.86735	0.0:1.0:0.0:0.0	.	64	P49720	PSB3_HUMAN	V	64	ENSP00000225426:A64V	ENSP00000225426:A64V	A	+	2	0	PSMB3	34165664	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.477000	0.81069	2.614000	0.88457	0.655000	0.94253	GCC	.		0.468	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		T	36912138	C	T	36912138	3	4	62	1	0	0	0	0	1	0	0	0	12720	739	26	3	201	3	PSMB3	17	36912138	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3398803	36912138	44283072	1229	13597											
GJD3	125111	hgsc.bcm.edu	37	chr17	38519449	38519449	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggtggcccagctcggCtacgctgagcagcgccgaca	15	14	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:38519449C>G	ENST00000578689.1	-	1	618	c.619G>C	c.(619-621)Gcc>Ccc	p.A207P	CTD-2267D19.3_ENST00000578774.1_Silent_p.G87G|GJD3_ENST00000337376.4_Missense_Mutation_p.A207P	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	207					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			CCCAGCTCGGCTACGCTGAGC	0.692																																					p.A207P		.											.	.	0			c.G619C						.						2	2	2					17																	38519449		1299	2832	4131	SO:0001583	missense	125111	exon1			GCTCGGCTACGCT	AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"Ion channels / Gap junction proteins (connexins)"	19147	protein-coding gene	gene with protein product	"connexin 31.9"	607425	"gap junction protein, chi 1, 31.9kDa"	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.619G>C	17.37:g.38519449C>G	ENSP00000463752:p.Ala207Pro	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	10	9	NM_152219	0	0	1	1	0	Q6ZUW6	Missense_Mutation	SNP	ENST00000578689.1	37	CCDS58547.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679536	0.29783	.	.	ENSG00000183153	ENST00000337376	D	0.96011	-3.88	3.26	2.28	0.28536	Gap junction protein, cysteine-rich domain (1);	0.814540	0.10309	U	0.690167	D	0.92097	0.7495	L	0.49455	1.56	0.25020	N	0.991344	B	0.10296	0.003	B	0.12156	0.007	D	0.84630	0.0689	10	0.59425	D	0.04	.	5.0123	0.14319	0.2056:0.6771:0.0:0.1174	.	207	Q8N144	CXD3_HUMAN	P	207	ENSP00000336832:A207P	ENSP00000336832:A207P	A	-	1	0	GJD3	35772975	0.001000	0.12720	1.000000	0.80357	0.641000	0.38312	0.167000	0.16602	0.580000	0.29522	0.407000	0.27541	GCC	.		0.692	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219		G	38519449	C	G	38519449	3	3	62	1	0	0	0	0	1	0	0	0	6444	797	28	3	269	3	GJD3	17	38519449	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1607311	38519449	42675761	1230	13598											
KRTAP1-3	81850	broad.mit.edu;bcgsc.ca	37	chr17	39190723	39190723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggggggcaggcaggtAccctccacacggcagtctgg	16	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39190723A>G	ENST00000344363.5	-	1	384	c.351T>C	c.(349-351)ggT>ggC	p.G117G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	127						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGCAGGTACCCTCCACAC	0.667																																					p.G117G		.											.	.	0			c.T351C						.						23	29	27					17																	39190723		2085	4179	6264	SO:0001819	synonymous_variant	81850	exon1			GCAGGTACCCTCC	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.351T>C	17.37:g.39190723A>G		Somatic	182	1		WXS	Illumina GAIIx	Phase_I	169	14	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	CCDS42323.1																																																																																			.		0.667	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			G	39190723	A	G	39190723	2	3	62	1	0	0	0	0	0	0	0	1	8530	378	14	4		4	KRTAP1-3	17	39190723	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	671274	39190723	42004487	1231	13599											
KRTAP4-3	85290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	39324164	39324164	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggtttgcagcagctGgagatacagcaggaaggcct	15	9	0	1	rs12600645		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39324164G>T	ENST00000391356.2	-	1	260	c.261C>A	c.(259-261)tcC>tcA	p.S87S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	87	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			tgcagcagctggagatacagc	0.602																																					p.S87S		.											.	KRTAP4-3-22	0			c.C261A						.																																			SO:0001819	synonymous_variant	85290	exon1			GCAGCTGGAGATA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.261C>A	17.37:g.39324164G>T		Somatic	279	1		WXS	Illumina GAIIx	Phase_I	308	195	NM_033187	0	0	0	0	0		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			G|0.750;A|0.250		0.602	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39324164	G	T	39324164	2	4	62	1	0	0	0	0	0	0	0	1	8580	1335	47	3		3	KRTAP4-3	17	39324164	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	133441	39324164	41871046	1232	13600											
KRTAP9-9	81870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39411754	39411754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagccctcctgctgtgtGtctagctgctgccagccttg	11	15	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39411754G>A	ENST00000394008.1	+	1	119	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	44	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGTGTCTAGCTGCT	0.647																																					p.V39V		.											.	.	0			c.G117A						.																																			SO:0001819	synonymous_variant	81870	exon1			CTGTGTGTCTAGC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.117G>A	17.37:g.39411754G>A		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	57	44	NM_030975	0	0	0	0	0	B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	CCDS54127.1																																																																																			.		0.647	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		A	39411754	G	A	39411754	2	1	62	1	0	0	0	0	0	0	0	1	8605	1364	48	3		3	KRTAP9-9	17	39411754	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	87590	39411754	41783456	1233	13601											
JUP	3728	ucsc.edu	37	chr17	39913949	39913949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccccctctgcatcaaTggcgtcggccgcctccttgt	11	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39913949T>C	ENST00000393931.3	-	11	1979	c.1861A>G	c.(1861-1863)Att>Gtt	p.I621V	JUP_ENST00000310706.5_Missense_Mutation_p.I621V|JUP_ENST00000393930.1_Missense_Mutation_p.I621V|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	621	Interaction with DSC1.				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)		TCTGCATCAATGGCGTCGGCC	0.687																																					p.I621V	Colon(16;42 520 6044 17852 28530)	.											.	JUP-479	0			c.A1861G						.						27	28	28					17																	39913949		2203	4300	6503	SO:0001583	missense	3728	exon11			CATCAATGGCGTC	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.1861A>G	17.37:g.39913949T>C	ENSP00000377508:p.Ile621Val	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	132	2	NM_021991	0	0	23	28	5	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884348	0.51908	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64803	-0.12;-0.12;-0.12	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.59436	1.845	0.80722	D	1	P	0.36086	0.536	P	0.44673	0.457	T	0.69038	-0.5251	10	0.56958	D	0.05	-18.635	13.377	0.60745	0.0:0.0:0.0:1.0	.	621	P14923	PLAK_HUMAN	V	621	ENSP00000377507:I621V;ENSP00000311113:I621V;ENSP00000377508:I621V	ENSP00000311113:I621V	I	-	1	0	JUP	37167475	1.000000	0.71417	0.966000	0.40874	0.268000	0.26511	6.014000	0.70784	2.037000	0.60232	0.459000	0.35465	ATT	.		0.687	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			C	39913949	T	C	39913949	3	2	62	1	0	0	0	0	1	0	0	0	7999	1464	51	4	392	4	JUP	17	39913949	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	502195	39913949	41281261	1234	13602											
TUBG1	7283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40767023	40767023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaccatgcggccacacgGccagactacatctcctgggg	12	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:40767023G>A	ENST00000251413.3	+	11	1382	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	440					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CGGCCACACGGCCAGACTACA	0.577																																					p.R440R	Colon(20;114 698 11420 22864)	.											.	TUBG1-91	0			c.G1320A						.						82	82	82					17																	40767023		2203	4300	6503	SO:0001819	synonymous_variant	7283	exon11			CACACGGCCAGAC	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1320G>A	17.37:g.40767023G>A		Somatic	211	0		WXS	Illumina GAIIx	Phase_I	187	154	NM_001070	0	0	1	37	36	Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	CCDS11433.1																																																																																			.		0.577	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		A	40767023	G	A	40767023	2	1	62	1	0	0	0	0	0	0	0	1	16813	1190	42	3		3	TUBG1	17	40767023	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	853074	40767023	40428187	1235	13603											
ATXN7L3	56970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42274975	42274975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctcaccaaaatcctTcatgctatcagggtccgtgt	8	12	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42274975T>G	ENST00000454077.2	-	2	174	c.175A>C	c.(175-177)Aag>Cag	p.K59Q	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.K59Q|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAAAATCCTTCATGCTATCA	0.532																																					p.K59Q		.											.	ATXN7L3-68	0			c.A175C						.						151	152	152					17																	42274975		2003	4171	6174	SO:0001583	missense	56970	exon2			AATCCTTCATGCT	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.175A>C	17.37:g.42274975T>G	ENSP00000397259:p.Lys59Gln	Somatic	130	0		WXS	Illumina GAIIx	Phase_I	103	76	NM_020218	0	0	0	0	0		Missense_Mutation	SNP	ENST00000454077.2	37	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119452	0.56505	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.8	3.72	0.42706	.	0.064455	0.64402	U	0.000010	T	0.67562	0.2906	M	0.71036	2.16	0.45777	D	0.998667	D;D	0.58620	0.983;0.98	P;P	0.58721	0.766;0.844	T	0.66850	-0.5819	9	0.51188	T	0.08	.	9.3501	0.38133	0.0:0.087:0.0:0.9129	.	59;59	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	59	.	ENSP00000374035:K59Q	K	-	1	0	ATXN7L3	39630501	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.853000	0.69496	0.690000	0.31570	0.533000	0.62120	AAG	.		0.532	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			G	42274975	T	G	42274975	3	3	62	1	0	0	0	0	1	0	0	0	1219	1792	62	5	933	5	ATXN7L3	17	42274975	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1507952	42274975	38920235	1236	13604											
SLC4A1	6521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	42337788	42337788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtgtttaagcagcaGggcccggagcagctcctctc	12	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42337788G>A	ENST00000262418.6	-	6	624	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	157	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTAAGCAGCAGGGCCCGGAGC	0.617																																					p.L157L		.											.	SLC4A1-92	0			c.C469T						.						40	39	40					17																	42337788		2203	4300	6503	SO:0001819	synonymous_variant	6521	exon6			GCAGCAGGGCCCG		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.469C>T	17.37:g.42337788G>A		Somatic	201	0		WXS	Illumina GAIIx	Phase_I	141	107	NM_000342	0	0	0	0	0	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																			.		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42337788	G	A	42337788	2	1	62	1	0	0	0	0	0	0	0	1	14695	991	35	3		3	SLC4A1	17	42337788	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	62813	42337788	38857422	1237	13605											
GPATCH8	23131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	42475271	42475271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggggtgagggtgaatgcCgatggcggcagcagctgcgg	21	7	0	2	rs200060507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42475271C>T	ENST00000591680.1	-	8	4204	c.4174G>A	c.(4174-4176)Ggc>Agc	p.G1392S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.G1314S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1392							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAATGCCGATGGCGGCA	0.567													C|||	1	0.000199681	0	0	5008	,	,		18945	0		0	False		,,,				2504	0.001				p.G1392S		.											.	GPATCH8-94	0			c.G4174A						.						80	69	73					17																	42475271		2203	4300	6503	SO:0001583	missense	23131	exon8			GAATGCCGATGGC	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4174G>A	17.37:g.42475271C>T	ENSP00000467556:p.Gly1392Ser	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	97	8	NM_001002909	0	0	24	25	1	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592409	0.66219	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15834	2.39	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06041	-1.0849	10	0.16896	T	0.51	-17.3349	17.9789	0.89134	0.0:1.0:0.0:0.0	.	1392	Q9UKJ3	GPTC8_HUMAN	S	1392;1314	ENSP00000395016:G1314S	ENSP00000335486:G1392S	G	-	1	0	GPATCH8	39830797	0.999000	0.42202	1.000000	0.80357	0.735000	0.41995	3.352000	0.52239	2.334000	0.79466	0.305000	0.20034	GGC	C|0.999;T|0.001		0.567	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		T	42475271	C	T	42475271	3	4	62	1	0	0	0	0	1	0	0	0	6620	652	23	1	338	1	GPATCH8	17	42475271	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	137483	42475271	38719939	1238	13606											
ACBD4	79777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	43214817	43214817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaccggcacccccaagCccaggttagtgcttgagcag	12	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:43214817C>G	ENST00000376955.4	+	6	795	c.498C>G	c.(496-498)agC>agG	p.S166R	ACBD4_ENST00000398322.3_Missense_Mutation_p.S166R|ACBD4_ENST00000592162.1_Missense_Mutation_p.S166R|ACBD4_ENST00000431281.1_Missense_Mutation_p.S166R|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000591859.1_Missense_Mutation_p.S166R|ACBD4_ENST00000586346.1_Missense_Mutation_p.S166R|ACBD4_ENST00000321854.8_Missense_Mutation_p.S166R	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	166				S -> G (in Ref. 2; BAC11403). {ECO:0000305}.			fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CACCCCCAAGCCCAGGTTAGT	0.617																																					p.S166R		.											.	ACBD4-92	0			c.C498G						.						43	44	43					17																	43214817		1911	4103	6014	SO:0001583	missense	79777	exon6			CCCAAGCCCAGGT	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.498C>G	17.37:g.43214817C>G	ENSP00000366154:p.Ser166Arg	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	53	44	NM_001135707	0	0	0	0	0	D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077958	0.36662	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.21543	2.2;2.3;2.3;2.0	4.27	-1.36	0.09085	.	1.083550	0.06916	N	0.808522	T	0.23330	0.0564	L	0.60455	1.87	0.09310	N	0.999994	P;P;P	0.45902	0.703;0.868;0.659	B;B;B	0.43274	0.172;0.383;0.414	T	0.33394	-0.9870	10	0.66056	D	0.02	.	7.7696	0.28999	0.0:0.4685:0.0:0.5315	.	166;166;166	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	R	166	ENSP00000405969:S166R;ENSP00000314440:S166R;ENSP00000381367:S166R;ENSP00000366154:S166R	ENSP00000314440:S166R	S	+	3	2	ACBD4	40570343	0.000000	0.05858	0.017000	0.16124	0.751000	0.42716	-0.666000	0.05280	-0.312000	0.08741	0.555000	0.69702	AGC	.		0.617	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		G	43214817	C	G	43214817	3	3	62	1	0	0	0	0	1	0	0	0	124	738	26	3	516	3	ACBD4	17	43214817	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	739546	43214817	37980393	1239	13607											
LPO	4025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56344750	56344750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgacctctcacagccGcagacactagaggagttgaa	10	11	2	4	rs148241940	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56344750G>A	ENST00000262290.4	+	12	2050	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	LPO_ENST00000421678.2_Silent_p.P495P|LPO_ENST00000543544.1_Silent_p.P519P|LPO_ENST00000582328.1_Silent_p.P495P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	578					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						TCTCACAGCCGCAGACACTAG	0.542													G|||	4	0.000798722	0.0015	0	5008	,	,		20134	0.002		0	False		,,,				2504	0				p.P578P		.											.	LPO-91	0			c.G1734A						.	G	,	2,4404	4.2+/-10.8	0,2,2201	68	62	64		1485,1734	-3.7	0.1	17	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPO	NM_001160102.1,NM_006151.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	495/630,578/713	56344750	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4025	exon12			ACAGCCGCAGACA	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.1734G>A	17.37:g.56344750G>A		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	79	65	NM_006151	0	0	0	0	0	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																			G|1.000;A|0.000		0.542	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			A	56344750	G	A	56344750	2	1	62	1	0	0	0	0	0	0	0	1	8957	1074	38	1		1	LPO	17	56344750	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	13129933	56344750	24850460	1240	13608											
BZRAP1	9256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56388274	56388274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgcagggggtgctcctgGaggctcttgagttccaaggg	17	9	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56388274G>A	ENST00000343736.4	-	19	3545	c.3382C>T	c.(3382-3384)Cca>Tca	p.P1128S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.P1128S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1068S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1128	Pro-rich.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTGCTCCTGGAGGCTCTTGA	0.652																																					p.P1128S		.											.	BZRAP1-229	0			c.C3382T						.						13	14	14					17																	56388274		2191	4282	6473	SO:0001583	missense	9256	exon19			CTCCTGGAGGCTC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3382C>T	17.37:g.56388274G>A	ENSP00000345824:p.Pro1128Ser	Somatic	25	0		WXS	Illumina GAIIx	Phase_I	27	21	NM_004758	0	0	0	1	1	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518789	0.44763	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.34667	1.35;1.35;1.35	5.58	4.58	0.56647	.	0.962117	0.08615	N	0.919377	T	0.32376	0.0827	L	0.54323	1.7	0.09310	N	1	P;B;B	0.35433	0.501;0.023;0.156	B;B;B	0.25140	0.058;0.007;0.054	T	0.13415	-1.0510	10	0.21540	T	0.41	.	13.6424	0.62260	0.0:0.1957:0.8043:0.0	.	1128;1068;1128	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1128;1128;1068	ENSP00000347929:P1128S;ENSP00000345824:P1128S;ENSP00000268893:P1068S	ENSP00000268893:P1068S	P	-	1	0	BZRAP1	53743273	0.185000	0.23213	0.462000	0.27118	0.347000	0.29111	3.097000	0.50251	2.620000	0.88729	0.563000	0.77884	CCA	.		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		A	56388274	G	A	56388274	3	1	62	1	0	0	0	0	1	0	0	0	1581	1174	41	3	2243	3	BZRAP1	17	56388274	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	43524	56388274	24806936	1241	13609											
RNF43	54894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56435785	56435785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacccactgcgttctgtgCaatagctttctccagatcca	8	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56435785C>T	ENST00000584437.1	-	8	3307	c.1352G>A	c.(1351-1353)tGc>tAc	p.C451Y	RNF43_ENST00000583753.1_Missense_Mutation_p.C410Y|RNF43_ENST00000577716.1_Missense_Mutation_p.C451Y|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.C324Y|RNF43_ENST00000581868.1_Missense_Mutation_p.C324Y|RNF43_ENST00000407977.2_Missense_Mutation_p.C451Y|RNF43_ENST00000500597.2_Missense_Mutation_p.C410Y			Q68DV7	RNF43_HUMAN	ring finger protein 43	451	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGTTCTGTGCAATAGCTTTC	0.622																																					p.C451Y		.											.	RNF43-92	0			c.G1352A						.						63	65	65					17																	56435785		2203	4300	6503	SO:0001583	missense	54894	exon9			TCTGTGCAATAGC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1352G>A	17.37:g.56435785C>T	ENSP00000463069:p.Cys451Tyr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	38	28	NM_017763	0	0	0	0	0	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167508	0.09339	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08008	3.28;3.14	4.88	4.88	0.63580	.	0.405477	0.27306	N	0.019967	T	0.06325	0.0163	N	0.24115	0.695	0.31004	N	0.719965	B;P;B	0.39624	0.118;0.681;0.165	B;B;B	0.41988	0.126;0.372;0.059	T	0.02758	-1.1114	10	0.02654	T	1	-20.1899	12.7418	0.57257	0.1756:0.8243:0.0:0.0	.	410;451;451	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Y	451;410	ENSP00000385328:C451Y;ENSP00000441969:C410Y	ENSP00000385328:C451Y	C	-	2	0	RNF43	53790784	1.000000	0.71417	0.969000	0.41365	0.023000	0.10783	1.456000	0.35201	2.257000	0.74773	0.416000	0.27883	TGC	.		0.622	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56435785	C	T	56435785	3	4	62	1	0	0	0	0	1	0	0	0	13540	710	25	3	1007	3	RNF43	17	56435785	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	47511	56435785	24759425	1242	13610											
RAD51C	5889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56774113	56774113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagtggcaggtgaagCagtttttattgatacagagg	16	3	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56774113C>T	ENST00000337432.4	+	3	535	c.464C>T	c.(463-465)gCa>gTa	p.A155V	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.A155V	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	155					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGTGAAGCAGTTTTTATT	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																												p.A155V		.											.	RAD51C-637	0			c.C464T						.						202	187	192					17																	56774113		2203	4300	6503	SO:0001583	missense	5889	exon3	Familial Cancer Database	BRCAX	GTGAAGCAGTTTT	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.464C>T	17.37:g.56774113C>T	ENSP00000336701:p.Ala155Val	Somatic	175	0		WXS	Illumina GAIIx	Phase_I	95	55	NM_058216	0	0	2	13	11	O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644600	0.87859	.	.	ENSG00000108384	ENST00000337432;ENST00000425173	T;T	0.58060	0.36;0.36	5.65	5.65	0.86999	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.099127	0.64402	D	0.000001	T	0.51244	0.1663	N	0.20401	0.57	0.80722	D	1	P;P	0.45396	0.857;0.484	P;P	0.53689	0.732;0.531	T	0.35549	-0.9784	10	0.14252	T	0.57	-20.1981	18.3036	0.90172	0.0:1.0:0.0:0.0	.	146;155	B4E0G0;O43502	.;RA51C_HUMAN	V	155;87	ENSP00000336701:A155V;ENSP00000407282:A87V	ENSP00000336701:A155V	A	+	2	0	RAD51C	54129112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.073000	0.64395	2.660000	0.90430	0.655000	0.94253	GCA	.		0.418	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		T	56774113	C	T	56774113	3	4	62	1	0	0	0	0	1	0	0	0	13033	710	25	3	478	3	RAD51C	17	56774113	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	338328	56774113	24421097	1243	13611											
KIF19	124602	bcgsc.ca	37	chr17	72340954	72340954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccaggagcccacggccGccaaccagacgtcctcccgc	11	20	0	1	rs144185563		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:72340954G>A	ENST00000389916.4	+	7	775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	213	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						GCCCACGGCCGCCAACCAGAC	0.672																																					p.A213T		.											.	KIF19-90	0			c.G637A						.	G	THR/ALA	0,4402		0,0,2201	37	40	39		637	4.5	1	17	dbSNP_134	39	1,8595	1.2+/-3.3	0,1,4297	no	missense	KIF19	NM_153209.3	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	213/999	72340954	1,12997	2201	4298	6499	SO:0001583	missense	124602	exon7			ACGGCCGCCAACC	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.637G>A	17.37:g.72340954G>A	ENSP00000374566:p.Ala213Thr	Somatic	115	4		WXS	Illumina GAIIx	Phase_I	147	114	NM_153209	0	0	0	0	0	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908839	0.92107	0.0	1.16E-4	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75589	-0.95;-0.95	5.49	4.52	0.55395	Kinesin, motor domain (5);	.	.	.	.	T	0.81498	0.4835	M	0.79258	2.445	0.80722	D	1	D;D;P;P	0.59767	0.976;0.986;0.915;0.915	P;P;P;P	0.54346	0.642;0.749;0.481;0.481	T	0.82476	-0.0438	9	0.45353	T	0.12	.	13.3097	0.60374	0.0779:0.0:0.9221:0.0	.	213;171;171;213	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	171;213	ENSP00000449134:A171T;ENSP00000374566:A213T	ENSP00000374566:A213T	A	+	1	0	KIF19	69852549	1.000000	0.71417	0.961000	0.40146	0.707000	0.40811	6.252000	0.72447	1.336000	0.45506	-0.265000	0.10407	GCC	G|1.000;A|0.000		0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72340954	G	A	72340954	3	1	62	1	0	0	0	0	1	0	0	0	8309	1087	38	1	663	1	KIF19	17	72340954	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	15566841	72340954	8854256	1244	13612											
TSEN54	283989	hgsc.bcm.edu	37	chr17	73512884	73512884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgccccagcgctcgcaTggccccaaggactttctgcc	10	17	1	0	rs8079373	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:73512884T>G	ENST00000333213.6	+	2	150	c.114T>G	c.(112-114)caT>caG	p.H38Q	CASKIN2_ENST00000581870.1_5'Flank|CASKIN2_ENST00000321617.3_5'Flank|TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	38			H -> Q (in dbSNP:rs8079373).		mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGCTCGCATGGCCCCAAGG	0.751													T|||	817	0.163139	0.351	0.1066	5008	,	,		8406	0.0298		0.1421	False		,,,				2504	0.1084				p.H38Q		.											.	TSEN54-91	0			c.T114G						.	T	GLN/HIS	687,2287		74,539,874	7	9	8		114	2.9	1	17	dbSNP_116	8	664,6048		32,600,2724	no	missense	TSEN54	NM_207346.2	24	106,1139,3598	GG,GT,TT		9.8927,23.1002,13.948	possibly-damaging	38/527	73512884	1351,8335	1487	3356	4843	SO:0001583	missense	283989	exon2			CTCGCATGGCCCC	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.114T>G	17.37:g.73512884T>G	ENSP00000327487:p.His38Gln	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	6	NM_207346	0	0	0	3	3	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	353	0.16163003663003664	180	0.36585365853658536	53	0.1464088397790055	16	0.027972027972027972	104	0.13720316622691292	T	16.52	3.146141	0.57044	0.231002	0.098927	ENSG00000182173	ENST00000333213;ENST00000545228	T	0.56611	0.45	4.01	2.93	0.34026	.	0.190194	0.36134	N	0.002767	T	0.00012	0.0000	L	0.27053	0.805	0.25905	P	0.9833048	B;D	0.69078	0.244;0.997	B;D	0.63793	0.075;0.918	T	0.31308	-0.9948	9	0.48119	T	0.1	-2.6418	7.7469	0.28875	0.0:0.1826:0.0:0.8174	rs8079373;rs60799944;rs8079373	38;38	Q7Z6J9;Q7Z6J9-2	SEN54_HUMAN;.	Q	38	ENSP00000327487:H38Q	ENSP00000327487:H38Q	H	+	3	2	TSEN54	71024479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.700000	0.25601	0.724000	0.32296	0.368000	0.22195	CAT	T|0.845;G|0.155		0.751	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		G	73512884	T	G	73512884	3	3	62	1	0	0	0	0	1	0	0	0	16662	1461	51	5	120	5	TSEN54	17	73512884	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1171930	73512884	7682326	1245	13613											
UNC13D	201294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73839590	73839590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggagaagtggtgggatGgaggctggatctgcagagca	21	5	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:73839590G>A	ENST00000207549.4	-	2	507	c.128C>T	c.(127-129)cCa>cTa	p.P43L	UNC13D_ENST00000412096.2_Missense_Mutation_p.P43L|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	43					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGTGGGATGGAGGCTGGAT	0.647									Familial Hemophagocytic Lymphohistiocytosis																												p.P43L		.											.	UNC13D-92	0			c.C128T						.						97	87	90					17																	73839590		2203	4299	6502	SO:0001583	missense	201294	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGGGATGGAGGCT	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.128C>T	17.37:g.73839590G>A	ENSP00000207549:p.Pro43Leu	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	75	61	NM_199242	0	0	0	0	0	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459705	0.12342	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69435	-0.38;-0.4	4.33	3.33	0.38152	.	0.444083	0.20267	N	0.095759	T	0.52256	0.1723	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.35895	-0.9770	10	0.25106	T	0.35	0.0609	8.9908	0.36022	0.0:0.0:0.7689:0.2311	.	43	Q70J99	UN13D_HUMAN	L	43	ENSP00000207549:P43L;ENSP00000388093:P43L	ENSP00000207549:P43L	P	-	2	0	UNC13D	71351185	0.004000	0.15560	0.009000	0.14445	0.021000	0.10359	0.793000	0.26944	0.964000	0.38108	0.561000	0.74099	CCA	.		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		A	73839590	G	A	73839590	3	1	62	1	0	0	0	0	1	0	0	0	17036	1348	47	3	3268	3	UNC13D	17	73839590	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	326706	73839590	7355620	1246	13614											
FOXJ1	2302	hgsc.bcm.edu	37	chr17	74133974	74133974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcctcggtattcacCgtcagcggcccggcccgggg	16	15	2	0	rs894542	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091				p.T242T		.											.	FOXJ1-227	0			c.G726A						.	C		156,3988		3,150,1919	4	6	5		726	1.5	1	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302	exon3			ATTCACCGTCAGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_001454	0	0	0	0	0	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																			C|0.925;T|0.075		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		T	74133974	C	T	74133974	2	4	62	1	0	0	0	0	0	0	0	1	6035	639	23	1		1	FOXJ1	17	74133974	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	294384	74133974	7061236	1247	13615											
UBE2O	63893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	74387281	74387281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgctagctgaggccaGgccctgggcaccgccctctg	13	17	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:74387281G>T	ENST00000319380.7	-	18	3686	c.3622C>A	c.(3622-3624)Ctg>Atg	p.L1208M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1208					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCTGAGGCCAGGCCCTGGGCA	0.632																																					p.L1208M		.											.	UBE2O-272	0			c.C3622A						.						81	78	79					17																	74387281		2203	4300	6503	SO:0001583	missense	63893	exon18			AGGCCAGGCCCTG	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3622C>A	17.37:g.74387281G>T	ENSP00000323687:p.Leu1208Met	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	63	54	NM_022066	0	0	0	15	15	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	g	7.305	0.613817	0.14066	.	.	ENSG00000175931	ENST00000319380	T	0.72615	-0.67	4.48	4.48	0.54585	.	1.271040	0.05806	N	0.613150	T	0.53658	0.1810	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.19391	0.025	T	0.37709	-0.9694	10	0.37606	T	0.19	-4.1291	10.1708	0.42908	0.0918:0.0:0.9082:0.0	.	1208	Q9C0C9	UBE2O_HUMAN	M	1208	ENSP00000323687:L1208M	ENSP00000323687:L1208M	L	-	1	2	UBE2O	71898876	0.034000	0.19679	0.982000	0.44146	0.585000	0.36419	0.268000	0.18571	2.326000	0.78906	0.651000	0.88453	CTG	.		0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		T	74387281	G	T	74387281	3	4	62	1	0	0	0	0	1	0	0	0	16917	991	35	3	260	3	UBE2O	17	74387281	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	253307	74387281	6807929	1248	13616											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76455088	76455088	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagccggcacttacggcaaTcttgtttttgatccgggaca	11	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:76455088T>A	ENST00000585328.1	-	61	9965	c.9841A>T	c.(9841-9843)Att>Ttt	p.I3281F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.I3272F	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3272	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTACGGCAATCTTGTTTTTG	0.602																																					p.I3286F		.											.	DNAH17-142	0			c.A9856T						.						95	88	90					17																	76455088		2203	4300	6503	SO:0001583	missense	8632	exon61			CGGCAATCTTGTT	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.9841A>T	17.37:g.76455088T>A	ENSP00000465516:p.Ile3281Phe	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	67	53	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	17.46	3.394779	0.62066	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80123	-1.34	5.35	5.35	0.76521	.	0.149138	0.39210	N	0.001423	D	0.83147	0.5191	M	0.85630	2.765	0.39565	D	0.969199	B	0.33694	0.421	B	0.34301	0.179	D	0.85866	0.1413	10	0.87932	D	0	.	15.0194	0.71617	0.0:0.0:0.0:1.0	.	3281	E7EUM8	.	F	3281;3272	ENSP00000374490:I3272F	ENSP00000300671:I3281F	I	-	1	0	DNAH17	73966683	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	3.794000	0.55492	2.016000	0.59253	0.533000	0.62120	ATT	.		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76455088	T	A	76455088	3	1	62	1	0	0	0	0	1	0	0	0	4615	1435	50	5	3616	5	DNAH17	17	76455088	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2067807	76455088	4740122	1249	13617											
C1QTNF1	114897	bcgsc.ca	37	chr17	77043989	77043989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtggtgatcttgtTcgcgcaggtgggcgaccgca	19	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:77043989T>C	ENST00000339142.2	+	5	1220	c.665T>C	c.(664-666)tTc>tCc	p.F222S	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.F140S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.F222S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.F232S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.F140S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	222	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTGATCTTGTTCGCGCAGGTG	0.592																																					p.F222S		.											.	C1QTNF1-91	0			c.T665C						.						156	124	135					17																	77043989		2203	4300	6503	SO:0001583	missense	114897	exon4			TCTTGTTCGCGCA	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.665T>C	17.37:g.77043989T>C	ENSP00000340864:p.Phe222Ser	Somatic	156	3		WXS	Illumina GAIIx	Phase_I	107	84	NM_030968	0	0	12	12	0	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835937	0.50951	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.75154	-0.91;-0.91;-0.91	5.07	2.8	0.32819	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.179099	0.37623	N	0.002018	T	0.70988	0.3287	L	0.49778	1.585	0.37858	D	0.92962	B;B;B	0.29955	0.005;0.005;0.263	B;B;B	0.38156	0.028;0.028;0.266	T	0.70044	-0.4980	10	0.72032	D	0.01	.	10.1418	0.42740	0.723:0.0:0.0:0.277	.	232;232;222	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	222;140;232;222;232	ENSP00000340864:F222S;ENSP00000311265:F140S;ENSP00000343230:F232S	ENSP00000311265:F140S	F	+	2	0	C1QTNF1	74555584	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.190000	0.72057	0.239000	0.21243	-0.527000	0.04329	TTC	.		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		C	77043989	T	C	77043989	3	2	62	1	0	0	0	0	1	0	0	0	1969	1783	62	4	675	4	C1QTNF1	17	77043989	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	588901	77043989	4151221	1250	13618											
ARHGDIA	396	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	79827660	79827660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcctccttgtacttTcgcaggctctcgtcgtcctt	10	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:79827660T>C	ENST00000269321.7	-	2	282	c.147A>G	c.(145-147)cgA>cgG	p.R49R	ARHGDIA_ENST00000584461.1_Silent_p.R49R|ARHGDIA_ENST00000581876.1_Silent_p.R49R|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000400721.4_Silent_p.R49R|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Silent_p.R49R|ARHGDIA_ENST00000541078.2_Silent_p.R49R	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	49					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTTGTACTTTCGCAGGCTCT	0.657																																					p.R49R		.											.	ARHGDIA-90	0			c.A147G						.						57	53	54					17																	79827660		2203	4300	6503	SO:0001819	synonymous_variant	396	exon2			GTACTTTCGCAGG	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.147A>G	17.37:g.79827660T>C		Somatic	61	1		WXS	Illumina GAIIx	Phase_I	20	19	NM_004309	0	1	31	294	262	A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	ENST00000269321.7	37	CCDS11788.1																																																																																			.		0.657	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		C	79827660	T	C	79827660	2	2	62	1	0	0	0	0	0	0	0	1	890	1770	62	4		4	ARHGDIA	17	79827660	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	2783671	79827660	1367550	1251	13619											
CEP192	55125	hgsc.bcm.edu;broad.mit.edu	37	chr18	13059087	13059087	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcttttttgaaggtggatCtttcaacatatcgttgttta	8	6	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:13059087C>T	ENST00000325971.8	+	19	4069	c.2476C>T	c.(2476-2478)Ctt>Ttt	p.L826F	CEP192_ENST00000430049.2_Missense_Mutation_p.L947F|CEP192_ENST00000506447.1_Missense_Mutation_p.L1422F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	826					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAGGTGGATCTTTCAACATA	0.363																																					p.L1422F		.											.	CEP192-27	0			c.C4264T						.						79	75	76					18																	13059087		2203	4300	6503	SO:0001583	missense	55125	exon21			GTGGATCTTTCAA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2476C>T	18.37:g.13059087C>T	ENSP00000317156:p.Leu826Phe	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	69	4	NM_032142	0	0	0	0	0	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	C	11.26	1.587374	0.28268	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.25414	1.8;1.8;1.8	5.08	2.23	0.28157	.	0.375039	0.28257	N	0.016010	T	0.14700	0.0355	N	0.21142	0.635	0.31358	N	0.681662	B;B;B	0.25390	0.023;0.016;0.125	B;B;B	0.26202	0.016;0.015;0.067	T	0.10543	-1.0625	10	0.33940	T	0.23	-14.9389	6.2462	0.20818	0.2609:0.595:0.0:0.1441	.	947;1422;826	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	F	1422;826;826;947	ENSP00000427550:L1422F;ENSP00000317156:L826F;ENSP00000389190:L947F	ENSP00000317156:L826F	L	+	1	0	CEP192	13049087	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.377000	0.34317	0.634000	0.30469	0.591000	0.81541	CTT	.		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		T	13059087	C	T	13059087	3	4	62	1	0	0	0	0	1	0	0	0	3258	913	32	3	4342	3	CEP192	18	13059087	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10		13059087	65018161	1252	13620											
POTEC	388468	broad.mit.edu	37	chr18	14533105	14533105	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actctctggccgtctgtccaGatagatcttgagaagataca	9	10	3	4	rs45610131	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:14533105G>C	ENST00000358970.5	-	5	1009	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	RNU6-1021P_ENST00000363262.1_RNA|POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	337				S -> C (in Ref. 2; AAI40941). {ECO:0000305}.						NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CGTCTGTCCAGATAGATCTTG	0.358																																					p.S337C		.											.	POTEC-3	0			c.C1010G						.																																			SO:0001583	missense	388468	exon5			TGTCCAGATAGAT	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.1010C>G	18.37:g.14533105G>C	ENSP00000351856:p.Ser337Cys	Somatic	514	0		WXS	Illumina GAIIx	Phase_I	344	9	NM_001137671	0	0	1	1	0		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094692	0.01858	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.66280	-0.2	1.09	-2.18	0.07037	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.56558	0.1993	L	0.37697	1.125	0.80722	P	0.0	D	0.64830	0.994	P	0.60345	0.873	T	0.52238	-0.8602	8	0.38643	T	0.18	.	0.092	0.00040	0.2399:0.2135:0.2549:0.2917	.	337	B2RU33	POTEC_HUMAN	C	337	ENSP00000351856:S337C	ENSP00000351856:S337C	S	-	2	0	POTEC	14523105	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-2.190000	0.01247	-1.507000	0.01803	0.194000	0.17425	TCT	C|1.000;|0.000		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		C	14533105	G	C	14533105	3	2	62	1	0	0	0	0	1	0	0	0	12301	942	33	3	646	3	POTEC	18	14533105	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1474018	14533105	63544143	1253	13621											
CABYR	114876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	21739840	21739840	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctaagtccccagaatgctAatcctccaagtggacaagat	7	13	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:21739840A>G	ENST00000319481.3	-	0	4195				CABYR_ENST00000581397.1_Missense_Mutation_p.N316D|CABYR_ENST00000399496.3_Missense_Mutation_p.N316D|CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Missense_Mutation_p.N218D|CABYR_ENST00000399499.1_Missense_Mutation_p.N316D	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCAGAATGCTAATCCTCCAAG	0.443																																					p.N316D		.											.	CABYR-90	0			c.A946G						.						147	145	145					18																	21739840		2203	4300	6503	SO:0001628	intergenic_variant	26256	exon5			AATGCTAATCCTC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739840A>G		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	55	40	NM_153769	0	0	0	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.862837	0.51482	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.45668	0.89;0.89	4.72	4.72	0.59763	.	.	.	.	.	T	0.23451	0.0567	N	0.19112	0.55	0.80722	D	1	P	0.40731	0.728	B	0.30572	0.117	T	0.06023	-1.0850	9	0.24483	T	0.36	.	12.5761	0.56365	1.0:0.0:0.0:0.0	.	316	O75952-3	.	D	316;218;316	ENSP00000382419:N316D;ENSP00000382421:N316D	ENSP00000317095:N218D	N	+	1	0	CABYR	19993838	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.572000	0.45999	1.977000	0.57605	0.460000	0.39030	AAT	.		0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		G	21739840	A	G	21739840	1	3	62	0	1	0	0	0	0	0	0	0	2543	362	13	4		4	CABYR	18	21739840	IGR	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	7206735	21739840	56337408	1254	13622											
MYO5B	4645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	47429038	47429038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgtttcagatgctctgCtgagcgggcctcaatcctga	12	11	3	4	rs564864501		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:47429038C>T	ENST00000285039.7	-	21	3036	c.2737G>A	c.(2737-2739)Gca>Aca	p.A913T	MYO5B_ENST00000324581.6_Missense_Mutation_p.A54T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	913	Arg-rich.|IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		AGATGCTCTGCTGAGCGGGCC	0.607																																					p.A913T		.											.	MYO5B-72	0			c.G2737A						.						67	72	70					18																	47429038		2024	4165	6189	SO:0001583	missense	4645	exon21			GCTCTGCTGAGCG	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.2737G>A	18.37:g.47429038C>T	ENSP00000285039:p.Ala913Thr	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	56	40	NM_001080467	0	0	0	13	13	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158480	0.94686	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.19105	2.17;2.17	5.63	5.63	0.86233	.	0.125328	0.52532	D	0.000080	T	0.43986	0.1272	M	0.75264	2.295	0.80722	D	1	B;D	0.89917	0.011;1.0	B;D	0.67548	0.015;0.952	T	0.26849	-1.0091	10	0.07482	T	0.82	.	19.6675	0.95898	0.0:1.0:0.0:0.0	.	913;54	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	913;54	ENSP00000285039:A913T;ENSP00000315531:A54T	ENSP00000285039:A913T	A	-	1	0	MYO5B	45683036	1.000000	0.71417	0.330000	0.25442	0.933000	0.57130	7.396000	0.79891	2.826000	0.97356	0.655000	0.94253	GCA	.		0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47429038	C	T	47429038	3	4	62	1	0	0	0	0	1	0	0	0	10117	797	28	3	2889	3	MYO5B	18	47429038	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	25689198	47429038	30648210	1255	13623											
MEX3C	51320	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	48702805	48702806	+	5'Flank	DNP	AC	AC	CA													ttttcacagatcttgttggcAcattccatgcagaagaggtt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:48702805_48702806AC>CA	ENST00000591040.1	-	0	799							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)		TCTTGTTGGCACATTCCATGCA	0.431																																					p.C632L		.											.	MEX3C-659	0			c.G1895T						.																																			SO:0001631	upstream_gene_variant	51320	exon2			TTGGCACATTCCA	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	Exception_encountered	18.37:g.48702805_48702806delinsCA	Exception_encountered	Somatic	216	0		WXS	Illumina GAIIx	Phase_I	136	0	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	Missense_Mutation	DNP	ENST00000591040.1	37																																																																																				.		0.431	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		CA	48702806	AC	CA	48702805	1	2	62	0	1	0	0	0	0	0	0	0	9549	157	6	5		5	MEX3C	18	48702805	5'Flank	DNP	AC	TCGA-PK-A5HB-01A-11D-A29I-10	1273767	48702805	29374443	1256	13624											
TXNL1	9352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	54293682	54293682	+	Frame_Shift_Del	DEL	C	C	-													ggggcaatcctcaaacatggCccacacctgttagaaaagga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:54293682delC	ENST00000217515.6	-	2	309	c.105delG	c.(103-105)gggfs	p.G35fs	TXNL1_ENST00000590954.1_Frame_Shift_Del_p.G35fs|TXNL1_ENST00000540155.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	35	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCAAACATGGCCCACACCTGT	0.353																																					p.G35fs		.											.	TXNL1-90	0			c.105delG						.						100	103	102					18																	54293682		2203	4300	6503	SO:0001589	frameshift_variant	9352	exon2			ACATGGCCCACAC	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.105delG	18.37:g.54293682delC	ENSP00000217515:p.Gly35fs	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	87	64	NM_004786	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000217515.6	37	CCDS11961.1																																																																																			.		0.353	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			-	54293682	C	-	54293682	7	5	62	1	0	1	0	1	0	0	0	0	16853	726	26	0	792	0	TXNL1	18	54293682	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	5590877	54293682	23783566	1257	13625											
NEDD4L	23327	broad.mit.edu	37	chr18	55816791	55816791	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgtctcgcatttgagcaGgtaacactcggtaagacttt	10	9	1	3	rs4149601	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:55816791G>A	ENST00000400345.3	+	2	331				NEDD4L_ENST00000456986.1_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000382850.4_Intron|NEDD4L_ENST00000588516.1_Intron|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000357895.5_Splice_Site_p.Q8Q|NEDD4L_ENST00000586263.1_Splice_Site_p.Q8Q|NEDD4L_ENST00000435432.2_5'UTR	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATTTGAGCAGGTAACACTCG	0.433													A|||	1383	0.276158	0.3608	0.2089	5008	,	,		21751	0.2113		0.3539	False		,,,				2504	0.1963				p.Q8Q		.											.	NEDD4L-658	0			c.G24A	GRCh37	CS024266	NEDD4L	S	rs4149601	.	A	,,,,,,	453,931		66,321,305	189	166	173		,,,24,24,,	2.8	0	18	dbSNP_110	173	1101,2081		196,709,686	yes	intron,utr-5,intron,coding-synonymous-near-splice,coding-synonymous-near-splice,utr-5,intron	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144971.1,NM_015277.5	,,,,,,	262,1030,991	AA,AG,GG		34.6009,32.7312,34.0342	,,,,,,	,,,8/968,8/948,,	55816791	1554,3012	692	1591	2283	SO:0001627	intron_variant	23327	exon1			TGAGCAGGTAACA	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.49-16229G>A	18.37:g.55816791G>A		Somatic	124	0		WXS	Illumina GAIIx	Phase_I	83	3	NM_001144968	0	0	0	0	0	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																			G|0.696;A|0.304		0.433	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	55816791	G	A	55816791	1	1	62	0	1	0	0	0	0	0	0	0	10350	1014	35	3		3	NEDD4L	18	55816791	Intron	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1523109	55816791	22260457	1258	13626											
ATP9B	374868	hgsc.bcm.edu	37	chr18	76829525	76829525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggagccgaccggcacAgcaggtaaccgaggcggcac	17	14	0	0	rs4078115	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:76829525A>G	ENST00000426216.2	+	1	132	c.115A>G	c.(115-117)Agc>Ggc	p.S39G	ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000586722.1_Missense_Mutation_p.S39G|ATP9B_ENST00000307671.7_Missense_Mutation_p.S39G|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	39			S -> G (in dbSNP:rs4078115). {ECO:0000269|PubMed:15489334}.		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)		CGACCGGCACAGCAGGTAACC	0.771													a|||	1574	0.314297	0.2277	0.2046	5008	,	,		9814	0.4494		0.2565	False		,,,				2504	0.4294				p.S39G		.											.	ATP9B-93	0			c.A115G						.		GLY/SER	504,2920		44,416,1252	3	4	4		115	-0.3	1	18	dbSNP_108	4	1215,5401		129,957,2222	no	missense	ATP9B	NM_198531.3	56	173,1373,3474	GG,GA,AA		18.3646,14.7196,17.1215	benign	39/1148	76829525	1719,8321	1712	3308	5020	SO:0001583	missense	374868	exon1			CGGCACAGCAGGT	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.115A>G	18.37:g.76829525A>G	ENSP00000398076:p.Ser39Gly	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	11	NM_198531	0	0	0	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	670	0.3067765567765568	104	0.21138211382113822	83	0.2292817679558011	281	0.49125874125874125	202	0.26649076517150394	a	7.584	0.669300	0.14776	0.147196	0.183646	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56103	0.48;0.48	2.56	-0.308	0.12773	.	1.710450	0.03865	N	0.274617	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999821082	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41016	-0.9532	9	0.23302	T	0.38	.	4.8264	0.13417	0.5235:0.0:0.4765:0.0	rs4078115;rs4327119	39;39;39	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	G	39	ENSP00000398076:S39G;ENSP00000304500:S39G	ENSP00000304500:S39G	S	+	1	0	ATP9B	74930513	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	1.165000	0.31822	-0.197000	0.10350	-0.465000	0.05216	AGC	A|0.693;G|0.307		0.771	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		G	76829525	A	G	76829525	3	3	62	1	0	0	0	0	1	0	0	0	1200	188	7	4	117	4	ATP9B	18	76829525	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	21012734	76829525	1247723	1259	13627											
PPAP2C	8612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	288051	288051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgatggtgaccccaGccatgagcccgtgggtgatg	16	11	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:288051G>T	ENST00000269812.3	-	2	222	c.173C>A	c.(172-174)gCt>gAt	p.A58D	PPAP2C_ENST00000327790.3_Missense_Mutation_p.A79D|PPAP2C_ENST00000434325.2_Missense_Mutation_p.A2D	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	58					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		GGTGACCCCAGCCATGAGCCC	0.632																																					p.A79D		.											.	PPAP2C-90	0			c.C236A						.						141	118	126					19																	288051		2203	4300	6503	SO:0001583	missense	8612	exon2			ACCCCAGCCATGA	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.173C>A	19.37:g.288051G>T	ENSP00000269812:p.Ala58Asp	Somatic	196	0		WXS	Illumina GAIIx	Phase_I	321	107	NM_177543	0	0	109	121	12	A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118363	0.37339	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.75704	-0.96;-0.96;1.32	4.58	2.31	0.28768	.	0.128287	0.50627	D	0.000106	T	0.79953	0.4535	L	0.47016	1.485	0.44018	D	0.996731	P;D	0.76494	0.849;0.999	B;D	0.72625	0.439;0.978	T	0.76984	-0.2756	10	0.37606	T	0.19	-15.517	13.4128	0.60952	0.0:0.3018:0.6982:0.0	.	58;79	O43688;O43688-2	LPP2_HUMAN;.	D	58;79;2	ENSP00000269812:A58D;ENSP00000329697:A79D;ENSP00000388565:A2D	ENSP00000269812:A58D	A	-	2	0	PPAP2C	239051	1.000000	0.71417	0.007000	0.13788	0.249000	0.25844	5.868000	0.69605	0.429000	0.26202	0.561000	0.74099	GCT	.		0.632	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			T	288051	G	T	288051	3	4	62	1	0	0	0	0	1	0	0	0	12331	971	34	3	713	3	PPAP2C	19	288051	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		288051	58840932	1260	13628											
ODF3L2	284451	ucsc.edu;mdanderson.org	37	chr19	474730	474730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccgtggggtggagtcGcagctgagggtccccatggt	18	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:474730G>A	ENST00000315489.4	-	1	253	c.18C>T	c.(16-18)tgC>tgT	p.C6C	ODF3L2_ENST00000382696.3_Silent_p.C6C	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	6						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GGGTGGAGTCGCAGCTGAGGG	0.721																																					p.C6C		.											.	ODF3L2-68	0			c.C18T						.																																			SO:0001819	synonymous_variant	284451	exon1			GGAGTCGCAGCTG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.18C>T	19.37:g.474730G>A		Somatic	24	1		WXS	Illumina GAIIx	Phase_I	114	27	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Silent	SNP	ENST00000315489.4	37	CCDS12027.1																																																																																			.		0.721	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		A	474730	G	A	474730	2	1	62	1	0	0	0	0	0	0	0	1	10871	1079	38	1		1	ODF3L2	19	474730	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	186679	474730	58654253	1261	13629											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929678	929678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgaggacagagagcccgaGagtgcccggatgcagcgggc	18	11	0	2	rs3826948	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3	4	3		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	5	5	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		A	929678	G	A	929678	2	1	62	1	0	0	0	0	0	0	0	1	916	933	33	3		3	ARID3A	19	929678	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	454948	929678	58199305	1262	13630											
ARID3A	1820	hgsc.bcm.edu	37	chr19	929753	929753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcctgggacacccAgccagccccggcggctctga	15	17	1	1	rs1799595	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4	5	5		225	-6.8	0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	15	15	NM_005224	0	0	0	5	5	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	929753	A	G	929753	2	3	62	1	0	0	0	0	0	0	0	1	916	175	7	4		4	ARID3A	19	929753	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	75	929753	58199230	1263	13631											
WDR18	57418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	985942	985942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatggtctctacgtcctGgcaggagttgcagaaagcat	11	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:985942G>A	ENST00000251289.5	+	2	311	c.288G>A	c.(286-288)ctG>ctA	p.L96L	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Silent_p.L96L	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	96					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTACGTCCTGGCAGGAGTTG	0.577																																					p.L96L		.											.	WDR18-91	0			c.G288A						.						121	97	105					19																	985942		2203	4300	6503	SO:0001819	synonymous_variant	57418	exon2			CGTCCTGGCAGGA		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.288G>A	19.37:g.985942G>A		Somatic	173	0		WXS	Illumina GAIIx	Phase_I	201	88	NM_024100	0	0	26	55	29	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																			.		0.577	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			A	985942	G	A	985942	2	1	62	1	0	0	0	0	0	0	0	1	17327	1335	47	3		3	WDR18	19	985942	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	56189	985942	58143041	1264	13632											
SGTA	6449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	2763724	2763724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcctgcaccgcgcctgCgtagttgccgagtttgctgt	12	13	0	0	rs374479958		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:2763724C>T	ENST00000221566.2	-	6	585	c.424G>A	c.(424-426)Gca>Aca	p.A142T		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	142					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCGCCTGCGTAGTTGCCG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		17153	0		0	False		,,,				2504	0				p.A142T		.											.	SGTA-91	0			c.G424A						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	66	55	59		424	1.9	0.2	19		59	0,8600		0,0,4300	no	missense	SGTA	NM_003021.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	142/314	2763724	1,13005	2203	4300	6503	SO:0001583	missense	6449	exon6			CGCCTGCGTAGTT	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.424G>A	19.37:g.2763724C>T	ENSP00000221566:p.Ala142Thr	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	122	51	NM_003021	0	0	100	201	101	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060782	0.01950	2.27E-4	0.0	ENSG00000104969	ENST00000221566	T	0.30182	1.54	4.03	1.86	0.25419	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.161726	0.53938	N	0.000043	T	0.11879	0.0289	N	0.04090	-0.28	0.41553	D	0.988589	B	0.09022	0.002	B	0.12156	0.007	T	0.15093	-1.0449	10	0.12430	T	0.62	-16.8748	8.5917	0.33690	0.0:0.8054:0.0:0.1946	.	142	O43765	SGTA_HUMAN	T	142	ENSP00000221566:A142T	ENSP00000221566:A142T	A	-	1	0	SGTA	2714724	0.945000	0.32115	0.173000	0.22940	0.026000	0.11368	0.413000	0.21148	0.196000	0.20367	0.462000	0.41574	GCA	.		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		T	2763724	C	T	2763724	3	4	62	1	0	0	0	0	1	0	0	0	14270	768	27	1	541	1	SGTA	19	2763724	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1777782	2763724	56365259	1265	13633											
ZNF77	58492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	2934175	2934175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtttctctccagtgtgcGtcctcacgtgatctctaaag	10	11	3	1	rs151130031	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:2934175G>A	ENST00000314531.4	-	4	1042	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	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)	p.T317M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTCCTCACGTG	0.458													G|||	6	0.00119808	0	0	5008	,	,		26340	0.001		0.002	False		,,,				2504	0.0031				p.T317M		.											.	ZNF77-91	1	Substitution - Missense(1)	endometrium(1)	c.C950T						.	G	MET/THR	0,4406		0,0,2203	166	149	155		950	-2.7	0	19	dbSNP_134	155	14,8586	10.5+/-38.8	0,14,4286	yes	missense	ZNF77	NM_021217.2	81	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	possibly-damaging	317/546	2934175	14,12992	2203	4300	6503	SO:0001583	missense	58492	exon4			GTGTGCGTCCTCA	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.950C>T	19.37:g.2934175G>A	ENSP00000319053:p.Thr317Met	Somatic	192	1		WXS	Illumina GAIIx	Phase_I	174	71	NM_021217	0	0	5	5	0	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	4	0.0018315018315018315	0	0.0	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	G	12.21	1.870625	0.33069	0.0	0.001628	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.20332	2.08	2.91	-2.67	0.06059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12561	0.0305	L	0.43757	1.38	0.09310	N	1	P	0.34562	0.457	B	0.24848	0.056	T	0.17440	-1.0369	9	0.51188	T	0.08	.	4.345	0.11129	0.3988:0.1781:0.423:0.0	.	317	Q15935	ZNF77_HUMAN	M	111;317	ENSP00000319053:T317M	ENSP00000319053:T317M	T	-	2	0	ZNF77	2885175	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	-0.434000	0.06939	-0.331000	0.08501	0.491000	0.48974	ACG	G|0.998;A|0.002		0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		A	2934175	G	A	2934175	3	1	62	1	0	0	0	0	1	0	0	0	18190	1145	40	1	691	1	ZNF77	19	2934175	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	170451	2934175	56194808	1266	13634											
EEF2	1938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3979353	3979353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggatgcaggcgtggtcctCctccaggtccttcaggcaga	15	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:3979353C>T	ENST00000309311.6	-	11	1775	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	563					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGTCCTCCTCCAGGTCC	0.637																																					p.E563K	Colon(165;1804 1908 4071 6587 18799)	.											.	EEF2-90	0			c.G1687A						.						92	98	96					19																	3979353		2203	4300	6503	SO:0001583	missense	1938	exon11			GGTCCTCCTCCAG	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1687G>A	19.37:g.3979353C>T	ENSP00000307940:p.Glu563Lys	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	134	63	NM_001961	0	2	2086	3761	1673	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689515	0.88735	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.71934	-0.61	5.45	5.45	0.79879	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.86178	2.8	0.80722	D	1	B	0.28512	0.214	B	0.20767	0.031	T	0.72343	-0.4322	10	0.31617	T	0.26	-59.4388	18.2479	0.89993	0.0:1.0:0.0:0.0	.	563	P13639	EF2_HUMAN	K	563	ENSP00000307940:E563K	ENSP00000307940:E563K	E	-	1	0	EEF2	3930353	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.731000	0.84895	2.555000	0.86185	0.561000	0.74099	GAG	.		0.637	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		T	3979353	C	T	3979353	3	4	62	1	0	0	0	0	1	0	0	0	4943	864	30	3	909	3	EEF2	19	3979353	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1045178	3979353	55149630	1267	13635											
ANKRD24	170961	hgsc.bcm.edu	37	chr19	4217956	4217956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcggggccgggcAgccagtctggagcaggaggt	20	10	1	0	rs6510794	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000262970.5_Silent_p.A1023A|ANKRD24_ENST00000318934.4_Silent_p.A933A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3	6	5		2799	0.3	1	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	12	11	NM_133475	0	0	0	0	0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		G	4217956	A	G	4217956	2	3	62	1	0	0	0	0	0	0	0	1	653	175	7	4		4	ANKRD24	19	4217956	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	238603	4217956	54911027	1268	13636											
CHAF1A	10036	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	4423813	4423813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcacagcgcattaaagCagagaaggccgaaatcacga	9	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4423813C>T	ENST00000301280.5	+	7	1420	c.1319C>T	c.(1318-1320)gCa>gTa	p.A440V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	440	Arg/Glu/Lys-rich.				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)		CGCATTAAAGCAGAGAAGGCC	0.507								Chromatin Structure																													p.A440V		.											.	CHAF1A-92	0			c.C1319T						.						88	78	81					19																	4423813		2203	4300	6503	SO:0001583	missense	10036	exon7			TTAAAGCAGAGAA	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.1319C>T	19.37:g.4423813C>T	ENSP00000301280:p.Ala440Val	Somatic	88	2		WXS	Illumina GAIIx	Phase_I	87	27	NM_005483	0	0	0	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685912	0.68157	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.07800	3.16	5.02	5.02	0.67125	.	.	.	.	.	T	0.27349	0.0671	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.00645	-1.1629	9	0.87932	D	0	-22.0968	15.8386	0.78824	0.0:1.0:0.0:0.0	.	440	Q13111	CAF1A_HUMAN	V	440	ENSP00000301280:A440V	ENSP00000301280:A440V	A	+	2	0	CHAF1A	4374813	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	5.413000	0.66399	2.488000	0.83962	0.561000	0.74099	GCA	.		0.507	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4423813	C	T	4423813	3	4	62	1	0	0	0	0	1	0	0	0	3318	710	25	3	1345	3	CHAF1A	19	4423813	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	205857	4423813	54705170	1269	13637											
UHRF1	29128	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4930840	4930840	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagccctgcagctccacgtCcaggccggcgctggaggagg	16	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4930840C>T	ENST00000592666.1	+	0	1097				MIR4747_ENST00000584057.1_RNA			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)		AGCTCCACGTCCAGGCCGGCG	0.652																																					.		.											.	UHRF1-522	0			.						.						60	68	65					19																	4930840		2126	4214	6340			29128	.			CCACGTCCAGGCC	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.4930840C>T		Somatic	102	0		WXS	Illumina GAIIx	Phase_I	183	88	.	0	0	10	17	7	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	C	9.820	1.185601	0.21870	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.29	2.02	0.26589	Domain of unknown function DUF3590 (1);	0.800615	0.11168	N	0.592334	T	0.48857	0.1523	L	0.53249	1.67	0.26403	N	0.976384	P;P	0.42161	0.772;0.64	B;P	0.47891	0.309;0.56	T	0.57382	-0.7821	8	0.66056	D	0.02	-10.5619	6.5714	0.22541	0.1567:0.6617:0.0:0.1816	.	187;174	Q2HIX7;Q96T88	.;UHRF1_HUMAN	F	174;174;174;187	.	ENSP00000262952:S174F	S	+	2	0	UHRF1	4881840	0.032000	0.19561	0.026000	0.17262	0.026000	0.11368	0.425000	0.21346	1.025000	0.39708	0.491000	0.48974	TCC	.		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		T	4930840	C	T	4930840	1	4	62	0	1	0	0	0	0	0	0	0	17016	855	30	3		3	UHRF1	19	4930840	RNA	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	507027	4930840	54198143	1270	13638											
FUT6	2528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	5831650	5831650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagcgggcgtggtccTtgtccagctcctgcaggtac	14	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:5831650T>C	ENST00000318336.4	-	3	2123	c.929A>G	c.(928-930)aAg>aGg	p.K310R	FUT6_ENST00000527106.1_Missense_Mutation_p.K310R|FUT6_ENST00000592563.1_Missense_Mutation_p.K310R|FUT6_ENST00000286955.5_Missense_Mutation_p.K310R|FUT6_ENST00000524754.1_Missense_Mutation_p.K310R	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	310					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						GGCGTGGTCCTTGTCCAGCTC	0.632																																					p.K310R		.											.	FUT6-90	0			c.A929G						.						34	38	36					19																	5831650		2203	4291	6494	SO:0001583	missense	2528	exon3			TGGTCCTTGTCCA		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.929A>G	19.37:g.5831650T>C	ENSP00000313398:p.Lys310Arg	Somatic	1019	1		WXS	Illumina GAIIx	Phase_I	1343	347	NM_000150	0	0	0	0	0	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	T	6.033	0.374492	0.11409	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	3.11	-1.26	0.09376	.	0.856095	0.09713	N	0.765475	T	0.18759	0.0450	L	0.38838	1.175	0.19300	N	0.999979	B;B	0.23937	0.094;0.035	B;B	0.28011	0.085;0.05	T	0.34950	-0.9808	10	0.32370	T	0.25	.	7.2034	0.25893	0.0:0.4847:0.0:0.5153	.	310;310	C9J8A2;P51993	.;FUT6_HUMAN	R	310	ENSP00000431708:K310R;ENSP00000432954:K310R;ENSP00000313398:K310R;ENSP00000286955:K310R	ENSP00000286955:K310R	K	-	2	0	FUT6	5782650	0.000000	0.05858	0.041000	0.18516	0.135000	0.20990	-1.482000	0.02320	-0.161000	0.10983	0.358000	0.22013	AAG	.		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		C	5831650	T	C	5831650	3	2	62	1	0	0	0	0	1	0	0	0	6132	1609	56	4	154	4	FUT6	19	5831650	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	900810	5831650	53297333	1271	13639											
MLLT1	4298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6213091	6213091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagctctgcagtttgcGcacggtggtctcgtccaggg	15	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6213091G>A	ENST00000252674.7	-	12	1805	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	548					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGCAGTTTGCGCACGGTGGTC	0.647			T	MLL	AL																																p.R548C		.		Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	.	MLLT1-658	0			c.C1642T						.						124	117	119					19																	6213091		2203	4300	6503	SO:0001583	missense	4298	exon12			GTTTGCGCACGGT		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1642C>T	19.37:g.6213091G>A	ENSP00000252674:p.Arg548Cys	Somatic	140	0		WXS	Illumina GAIIx	Phase_I	215	102	NM_005934	0	0	9	16	7	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431665	0.62844	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.34	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.70850	0.3271	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.71504	-0.4573	9	0.87932	D	0	-17.8164	7.9161	0.29818	0.0925:0.1645:0.743:0.0	.	548	Q03111	ENL_HUMAN	C	548	.	ENSP00000252674:R548C	R	-	1	0	MLLT1	6164091	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	5.382000	0.66213	0.804000	0.34136	0.580000	0.79431	CGC	.		0.647	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		A	6213091	G	A	6213091	3	1	62	1	0	0	0	0	1	0	0	0	9663	1087	38	1	41	1	MLLT1	19	6213091	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	381441	6213091	52915892	1272	13640											
CLPP	8192	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	6361605	6361606	+	Frame_Shift_Ins	INS	-	-	A													atgtggcccggaatattggtINSagggggggcccgggtggcgt					rs556537852		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6361605_6361606insA	ENST00000245816.4	+	1	143_144	c.20_21insA	c.(19-24)gtagggfs	p.G8fs	CLPP_ENST00000596149.1_5'Flank|CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596605.1_5'Flank	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	8					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GGAATATTGGTAGGGGGGGCCC	0.713																																					p.V7fs		.											.	CLPP-91	0			c.20_21insA						.																																			SO:0001589	frameshift_variant	8192	exon1			TATTGGTAGGGGG	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.21dupA	19.37:g.6361606_6361606dupA	ENSP00000245816:p.Gly8fs	Somatic	21	0		WXS	Illumina GAIIx	Phase_I	46	23	NM_006012	0	0	0	0	0	B2R4W5	Frame_Shift_Ins	INS	ENST00000245816.4	37	CCDS12162.1																																																																																			.		0.713	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012		A	6361606	-	A	6361605	7	5	62	1	0	1	1	0	0	0	0	0	3559	1638	57	0	22	0	CLPP	19	6361605	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	148514	6361605	52767378	1273	13641											
GPR108	56927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	6731283	6731283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcgggtgaagtagacgTagcagatgacctgcaggggc	17	7	0	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6731283T>C	ENST00000264080.7	-	16	1387	c.1361A>G	c.(1360-1362)tAc>tGc	p.Y454C	GPR108_ENST00000430424.4_Missense_Mutation_p.Y212C|GPR108_ENST00000598626.1_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	454						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAAGTAGACGTAGCAGATGAC	0.677																																					p.Y454C		.											.	GPR108-68	0			c.A1361G						.						38	44	42					19																	6731283		2168	4263	6431	SO:0001583	missense	56927	exon16			TAGACGTAGCAGA		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1361A>G	19.37:g.6731283T>C	ENSP00000264080:p.Tyr454Cys	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	115	49	NM_001080452	0	0	0	0	0	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606401	0.28623	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000430424	T	0.30448	1.53	3.79	2.76	0.32466	.	0.092768	0.45361	N	0.000365	T	0.53642	0.1809	M	0.89414	3.03	0.48830	D	0.999711	D	0.89917	1.0	D	0.97110	1.0	T	0.51521	-0.8695	10	0.87932	D	0	-21.1907	3.2321	0.06752	0.2044:0.1171:0.0:0.6784	.	454	Q9NPR9	GP108_HUMAN	C	46;454;212	ENSP00000264080:Y454C	ENSP00000264080:Y454C	Y	-	2	0	GPR108	6682283	1.000000	0.71417	0.238000	0.24106	0.026000	0.11368	3.408000	0.52651	0.375000	0.24679	0.254000	0.18369	TAC	.		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			C	6731283	T	C	6731283	3	2	62	1	0	0	0	0	1	0	0	0	6650	1638	57	4	282	4	GPR108	19	6731283	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	369678	6731283	52397700	1274	13642											
PNPLA6	10908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	7622153	7622153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctactcatggatggcggctAcatcaacaatctgccaggca	9	13	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7622153A>G	ENST00000221249.6	+	30	3697	c.3266A>G	c.(3265-3267)tAc>tGc	p.Y1089C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.Y1062C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Y1127C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.Y1089C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Y1137C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1128	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GATGGCGGCTACATCAACAAT	0.677																																					p.Y1137C		.											.	PNPLA6-47	0			c.A3410G						.						50	43	45					19																	7622153		2202	4298	6500	SO:0001583	missense	10908	exon29			GCGGCTACATCAA	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.3266A>G	19.37:g.7622153A>G	ENSP00000221249:p.Tyr1089Cys	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	164	60	NM_001166111	0	0	35	69	34	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	a	17.79	3.474891	0.63737	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000002	D	0.87771	0.6261	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89179	0.3542	10	0.87932	D	0	.	11.0965	0.48147	1.0:0.0:0.0:0.0	.	1128;1062;1127;1089	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	1089;1062;1137;1089	ENSP00000221249:Y1089C;ENSP00000443323:Y1062C;ENSP00000407509:Y1137C;ENSP00000394348:Y1089C	ENSP00000221249:Y1089C	Y	+	2	0	PNPLA6	7528153	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.006000	0.93592	1.726000	0.51525	0.397000	0.26171	TAC	.		0.677	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		G	7622153	A	G	7622153	3	3	62	1	0	0	0	0	1	0	0	0	12208	391	14	4	3520	4	PNPLA6	19	7622153	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	890870	7622153	51506830	1275	13643											
LRRC8E	80131	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	7965669	7965669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcctggagctcaaaggCaaccgcttagaggcgctgcc	13	14	1	1	rs3745385	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7965669C>T	ENST00000306708.6	+	3	2363	c.2262C>T	c.(2260-2262)ggC>ggT	p.G754G	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	754					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCTCAAAGGCAACCGCTTAG	0.652													C|||	228	0.0455272	0.1029	0.0086	5008	,	,		16095	0.0823		0	False		,,,				2504	0.0031				p.G754G		.											.	LRRC8E-92	0			c.C2262T						.	C		407,3999		17,373,1813	35	40	38		2262	-1.9	1	19	dbSNP_107	38	8,8592		0,8,4292	no	coding-synonymous	LRRC8E	NM_025061.3		17,381,6105	TT,TC,CC		0.093,9.2374,3.1908		754/797	7965669	415,12591	2203	4300	6503	SO:0001819	synonymous_variant	80131	exon4			CAAAGGCAACCGC		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2262C>T	19.37:g.7965669C>T		Somatic	127	1		WXS	Illumina GAIIx	Phase_I	162	63	NM_001268284	0	0	2	7	5	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																			C|0.956;T|0.044		0.652	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7965669	C	T	7965669	2	4	62	1	0	0	0	0	0	0	0	1	9060	697	25	3		3	LRRC8E	19	7965669	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	343516	7965669	51163314	1276	13644											
MAP2K7	5609	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	7975940	7975940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagccctccaacatcctgCtggacgagcggggccagatc	11	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7975940C>T	ENST00000397979.3	+	7	805	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	MAP2K7_ENST00000397983.3_Silent_p.L267L|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.L251L|MAP2K7_ENST00000545011.1_Silent_p.L293L	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CAACATCCTGCTGGACGAGCG	0.637																																					p.L251L		.											.	MAP2K7-1450	0			c.C751T						.						36	41	39					19																	7975940		2108	4238	6346	SO:0001819	synonymous_variant	5609	exon7			ATCCTGCTGGACG	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.751C>T	19.37:g.7975940C>T		Somatic	150	1		WXS	Illumina GAIIx	Phase_I	233	79	NM_145185	0	0	10	24	14	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	CCDS42491.1																																																																																			.		0.637	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			T	7975940	C	T	7975940	2	4	62	1	0	0	0	0	0	0	0	1	9280	796	28	3		3	MAP2K7	19	7975940	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	10271	7975940	51153043	1277	13645											
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8138131	8138131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagccaccaagagtgttgcGacaggaggcgctcccgcagg	15	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8138131G>A	ENST00000600128.1	-	62	8167	c.7753C>T	c.(7753-7755)Cgc>Tgc	p.R2585C	FBN3_ENST00000601739.1_Missense_Mutation_p.R2585C|FBN3_ENST00000270509.2_Missense_Mutation_p.R2585C			Q75N90	FBN3_HUMAN	fibrillin 3	2585	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGTGTTGCGACAGGAGGCG	0.662																																					p.R2585C		.											.	FBN3-100	0			c.C7753T						.						34	38	37					19																	8138131		2203	4300	6503	SO:0001583	missense	84467	exon61			TGTTGCGACAGGA		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.7753C>T	19.37:g.8138131G>A	ENSP00000470498:p.Arg2585Cys	Somatic	191	2		WXS	Illumina GAIIx	Phase_I	239	107	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373176	0.42105	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	T	0.17370	2.28	4.39	3.28	0.37604	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.140230	0.49305	U	0.000142	T	0.20088	0.0483	L	0.39397	1.21	0.39726	D	0.971545	D;D	0.71674	0.977;0.998	P;P	0.57846	0.512;0.828	T	0.04723	-1.0931	10	0.38643	T	0.18	.	3.1553	0.06502	0.4555:0.0:0.5445:0.0	.	2585;648	Q75N90;Q6ZNB8	FBN3_HUMAN;.	C	2585;648	ENSP00000270509:R2585C	ENSP00000270509:R2585C	R	-	1	0	FBN3	8044131	1.000000	0.71417	0.653000	0.29593	0.029000	0.11900	3.527000	0.53517	1.990000	0.58119	0.561000	0.74099	CGC	.		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8138131	G	A	8138131	3	1	62	1	0	0	0	0	1	0	0	0	5726	1058	37	1	688	1	FBN3	19	8138131	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	162191	8138131	50990852	1278	13646											
KANK3	256949	hgsc.bcm.edu	37	chr19	8399635	8399635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgctccagactggcgCgcagcagctctagctcgcgc	14	15	1	1	rs890853	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8399635C>T	ENST00000593649.1	-	3	1141	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	KANK3_ENST00000330915.3_Missense_Mutation_p.R359H			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	359			R -> H (in dbSNP:rs890853).							breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGACTGGCGCGCAGCAGCTC	0.761													C|||	962	0.192093	0.093	0.3847	5008	,	,		10548	0.2113		0.2545	False		,,,				2504	0.1053				p.R359H		.											.	KANK3-90	0			c.G1076A						.						1	1	1					19																	8399635		1163	2476	3639	SO:0001583	missense	256949	exon3			CTGGCGCGCAGCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1076G>A	19.37:g.8399635C>T	ENSP00000470728:p.Arg359His	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	9	4	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37		505	0.23122710622710624	63	0.12804878048780488	131	0.36187845303867405	117	0.20454545454545456	194	0.2559366754617414	C	13.09	2.134512	0.37630	.	.	ENSG00000186994	ENST00000330915	T	0.54071	0.59	4.52	0.959	0.19624	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.53688	P	2.8999999999945736E-5	B	0.16396	0.017	B	0.09377	0.004	T	0.33394	-0.9870	8	0.54805	T	0.06	-23.4019	6.9118	0.24338	0.0:0.5682:0.0:0.4318	rs890853	359	Q6NY19-2	.	H	359	ENSP00000328923:R359H	ENSP00000328923:R359H	R	-	2	0	KANK3	8305635	0.014000	0.17966	0.688000	0.30117	0.060000	0.15804	0.173000	0.16724	0.468000	0.27243	0.297000	0.19635	CGC	C|0.769;T|0.231		0.761	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		T	8399635	C	T	8399635	3	4	62	1	0	0	0	0	1	0	0	0	8005	768	27	1	1425	1	KANK3	19	8399635	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	261504	8399635	50729348	1279	13647											
ANGPTL4	51129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8436389	8436389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcagggacaagaactGcgccaagagcctctctggtg	12	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8436389G>A	ENST00000301455.2	+	6	1193	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.C174Y|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.C303Y|RAB11B-AS1_ENST00000597785.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA|RAB11B-AS1_ENST00000597407.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	341	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GACAAGAACTGCGCCAAGAGC	0.647																																					p.C341Y		.											.	ANGPTL4-91	0			c.G1022A						.						30	29	29					19																	8436389		2200	4296	6496	SO:0001583	missense	51129	exon6			AGAACTGCGCCAA	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1022G>A	19.37:g.8436389G>A	ENSP00000301455:p.Cys341Tyr	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	192	81	NM_139314	0	0	9	9	0	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388259	0.82902	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	D;D;D	0.87491	-2.26;-2.26;-2.26	4.94	4.94	0.65067	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97603	1.0124	10	0.72032	D	0.01	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	303;341	A8MY84;Q9BY76	.;ANGL4_HUMAN	Y	341;303;174	ENSP00000301455:C341Y;ENSP00000377534:C303Y;ENSP00000439833:C174Y	ENSP00000301455:C341Y	C	+	2	0	ANGPTL4	8342389	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.238000	0.95380	2.286000	0.76751	0.555000	0.69702	TGC	.		0.647	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		A	8436389	G	A	8436389	3	1	62	1	0	0	0	0	1	0	0	0	616	1319	46	3	1044	3	ANGPTL4	19	8436389	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	36754	8436389	50692594	1280	13648											
HNRNPM	4670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8531219	8531219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataaagatggaaaaagtcGtggaataggcactgttactt	11	4	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8531219G>A	ENST00000325495.4	+	7	772	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R205H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	244	RRM 2. {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						GGAAAAAGTCGTGGAATAGGC	0.398																																					p.R244H		.											.	HNRNPM-68	0			c.G731A						.						162	153	156					19																	8531219		2203	4300	6503	SO:0001583	missense	4670	exon7			AAAGTCGTGGAAT	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.731G>A	19.37:g.8531219G>A	ENSP00000325376:p.Arg244His	Somatic	143	0		WXS	Illumina GAIIx	Phase_I	163	60	NM_005968	0	0	57	126	69	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159709	0.78226	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.42131	0.98;2.16	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.82056	2.57	0.80722	D	1	B;B;B;P;B	0.51240	0.038;0.038;0.142;0.943;0.044	B;B;B;P;B	0.47251	0.042;0.031;0.078;0.542;0.057	T	0.64054	-0.6497	10	0.87932	D	0	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	84;244;205;205;144	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	H	244;205;144	ENSP00000325376:R244H;ENSP00000325732:R205H	ENSP00000325376:R244H	R	+	2	0	HNRNPM	8437219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	CGT	.		0.398	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			A	8531219	G	A	8531219	3	1	62	1	0	0	0	0	1	0	0	0	7298	1145	40	1	757	1	HNRNPM	19	8531219	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	94830	8531219	50597764	1281	13649											
PRAM1	84106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8563981	8563981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcacggacttcttAgggaggccaccgacctgagg	16	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8563981A>G	ENST00000423345.4	-	2	1231	c.711T>C	c.(709-711)ccT>ccC	p.P237P	PRAM1_ENST00000255612.3_Silent_p.P237P			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	285	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGACTTCTTAGGGAGGCCAC	0.632																																					p.P237P		.											.	.	0			c.T711C						.						38	41	40					19																	8563981		2063	4213	6276	SO:0001819	synonymous_variant	84106	exon2			CTTCTTAGGGAGG	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.711T>C	19.37:g.8563981A>G		Somatic	35	0		WXS	Illumina GAIIx	Phase_I	59	23	NM_032152	0	0	0	0	0	Q8N6W7	Silent	SNP	ENST00000423345.4	37	CCDS45954.2																																																																																			.		0.632	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		G	8563981	A	G	8563981	2	3	62	1	0	0	0	0	0	0	0	1	12465	407	15	4		4	PRAM1	19	8563981	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	32762	8563981	50565002	1282	13650											
ADAMTS10	81794	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	8645784	8645784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcgcgccccctagtggCcatggcaggttttgcagcac	13	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8645784C>T	ENST00000597188.1	-	26	3575	c.3305G>A	c.(3304-3306)gGc>gAc	p.G1102D	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G589D|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G1102D|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1102	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					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						CCCCTAGTGGCCATGGCAGGT	0.687											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1102D		.											.	ADAMTS10-229	0			c.G3305A						.						22	19	20					19																	8645784		2203	4300	6503	SO:0001583	missense	81794	exon26			TAGTGGCCATGGC	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.3305G>A	19.37:g.8645784C>T	ENSP00000471851:p.Gly1102Asp	Somatic	20	0	650	WXS	Illumina GAIIx	Phase_I	33	8	NM_030957	0	0	0	0	0	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	35	5.486626	0.96323	.	.	ENSG00000142303	ENST00000270328	T	0.59638	0.25	5.47	5.47	0.80525	PLAC (1);	0.000000	0.85682	U	0.000000	T	0.70107	0.3186	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71619	-0.4538	10	0.62326	D	0.03	.	18.3281	0.90260	0.0:1.0:0.0:0.0	.	1102;589	Q9H324;E9PCI6	ATS10_HUMAN;.	D	1102	ENSP00000270328:G1102D	ENSP00000270328:G1102D	G	-	2	0	ADAMTS10	8551784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.396000	0.79891	2.566000	0.86566	0.549000	0.68633	GGC	.		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8645784	C	T	8645784	3	4	62	1	0	0	0	0	1	0	0	0	256	739	26	3	10	3	ADAMTS10	19	8645784	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	81803	8645784	50483199	1283	13651											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9019621	9019621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggtgggcacagaggTccgatgggtgaaacctgcat	16	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9019621T>C	ENST00000397910.4	-	22	37728	c.37525A>G	c.(37525-37527)Acc>Gcc	p.T12509A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12511					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						GGCACAGAGGTCCGATGGGTG	0.507																																					p.T12509A		.											.	MUC16-566	0			c.A37525G						.						153	135	141					19																	9019621		1967	4152	6119	SO:0001583	missense	94025	exon22			CAGAGGTCCGATG	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.37525A>G	19.37:g.9019621T>C	ENSP00000381008:p.Thr12509Ala	Somatic	273	0		WXS	Illumina GAIIx	Phase_I	328	139	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.373	-0.128094	0.06753	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	1.43	0.359	0.16088	.	.	.	.	.	T	0.20536	0.0494	L	0.38175	1.15	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.23940	-1.0174	8	0.87932	D	0	.	3.206	0.06666	0.0:0.2579:0.0:0.7421	.	12509	B5ME49	.	A	12509	ENSP00000381008:T12509A	ENSP00000381008:T12509A	T	-	1	0	MUC16	8880621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	0.037000	0.15575	0.413000	0.27773	ACC	.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9019621	T	C	9019621	3	2	62	1	0	0	0	0	1	0	0	0	10011	1667	58	4	6250	4	MUC16	19	9019621	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	373837	9019621	50109362	1284	13652											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9084962	9084962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataggtgtcactcttgaagTcaactcatgagtgagagatg	11	6	4	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9084962T>C	ENST00000397910.4	-	1	7056	c.6853A>G	c.(6853-6855)Act>Gct	p.T2285A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2285	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						ACTCTTGAAGTCAACTCATGA	0.458																																					p.T2285A		.											.	MUC16-566	0			c.A6853G						.						57	55	56					19																	9084962		1922	4141	6063	SO:0001583	missense	94025	exon1			TTGAAGTCAACTC	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.6853A>G	19.37:g.9084962T>C	ENSP00000381008:p.Thr2285Ala	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	82	32	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.126	-1.118881	0.01785	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	0.225	-0.451	0.12214	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.45527	-0.9255	7	0.87932	D	0	.	.	.	.	.	2285	B5ME49	.	A	2285	ENSP00000381008:T2285A	ENSP00000381008:T2285A	T	-	1	0	MUC16	8945962	0.000000	0.05858	0.026000	0.17262	0.027000	0.11550	-1.473000	0.02339	-0.759000	0.04684	-0.756000	0.03474	ACT	.		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9084962	T	C	9084962	3	2	62	1	0	0	0	0	1	0	0	0	10011	1667	58	4	37006	4	MUC16	19	9084962	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	65341	9084962	50044021	1285	13653											
OR1M1	125963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9204539	9204539	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggcagggatggtgAtagccacgccctttgtctgc	13	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9204539A>T	ENST00000429566.3	+	1	685	c.619A>T	c.(619-621)Ata>Tta	p.I207L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGGATGGTGATAGCCACGCC	0.567																																					p.I207L		.											.	OR1M1-71	0			c.A619T						.						127	102	110					19																	9204539		2203	4300	6503	SO:0001583	missense	125963	exon1			ATGGTGATAGCCA		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.619A>T	19.37:g.9204539A>T	ENSP00000401966:p.Ile207Leu	Somatic	101	0		WXS	Illumina GAIIx	Phase_I	117	54	NM_001004456	0	0	0	0	0	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	a	5.297	0.240116	0.10023	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.36157	1.27	3.8	0.497	0.16902	GPCR, rhodopsin-like superfamily (1);	0.300711	0.27792	N	0.017826	T	0.13030	0.0316	N	0.04636	-0.2	0.09310	N	1	B	0.14805	0.011	B	0.18561	0.022	T	0.19418	-1.0306	10	0.21014	T	0.42	.	4.2227	0.10565	0.4322:0.0:0.3992:0.1686	.	207	Q8NGA1	OR1M1_HUMAN	L	210;207	ENSP00000401966:I207L	ENSP00000303195:I210L	I	+	1	0	OR1M1	9065539	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-0.100000	0.10990	-0.083000	0.12618	0.524000	0.50904	ATA	.		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			T	9204539	A	T	9204539	3	4	62	1	0	0	0	0	1	0	0	0	11007	333	12	5	621	5	OR1M1	19	9204539	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	119577	9204539	49924444	1286	13654											
ZNF317	57693	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	9271917	9271917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaaccgtacgaatgCgatcactgtgggaaggcctt	15	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9271917C>T	ENST00000247956.6	+	7	1901	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	ZNF317_ENST00000360385.3_Silent_p.C500C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGTACGAATGCGATCACTGTG	0.567																																					p.C532C		.											.	ZNF317-90	0			c.C1596T						.						98	80	86					19																	9271917		2203	4300	6503	SO:0001819	synonymous_variant	57693	exon7			CGAATGCGATCAC	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.1596C>T	19.37:g.9271917C>T		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	212	91	NM_020933	0	0	8	23	15	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																			.		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		T	9271917	C	T	9271917	2	4	62	1	0	0	0	0	0	0	0	1	17883	776	27	1		1	ZNF317	19	9271917	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	67378	9271917	49857066	1287	13655											
ZNF559	84527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9453476	9453476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagcctttagatactcctCgcaccttagtcaacataaaa	5	11	1	1	rs377766347		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9453476C>T	ENST00000393883.2	+	6	1997	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.S370L|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.S514L|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S450L	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGATACTCCTCGCACCTTAGT	0.428																																					p.S514L		.											.	ZNF559-91	0			c.C1541T						.	C	LEU/SER,LEU/SER,LEU/SER,,,,,,,	0,4406		0,0,2203	67	58	61		1541,1223,1349,,,,,,,	0.1	0	19		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,utr-3,utr-3,utr-3,utr-3,utr-3,intron	ZNF559,ZNF559-ZNF177	NM_001202406.1,NM_001202407.1,NM_032497.2,NM_001172650.2,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1	145,145,145,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,,,,,,,	514/603,408/497,450/539,,,,,,,	9453476	1,13005	2203	4300	6503	SO:0001583	missense	84527	exon6			ACTCCTCGCACCT	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1349C>T	19.37:g.9453476C>T	ENSP00000377461:p.Ser450Leu	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	201	83	NM_001202406	0	0	3	6	3	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222231	0.39300	0.0	1.16E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.07444	3.19;3.19	2.22	0.0609	0.14338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	M	0.89601	3.045	0.09310	N	1	P;P;B	0.45986	0.572;0.87;0.436	B;B;B	0.40677	0.051;0.337;0.008	T	0.20174	-1.0283	9	0.72032	D	0.01	.	2.2517	0.04045	0.2452:0.4563:0.0:0.2985	.	450;450;370	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	L	450;370;450	ENSP00000442832:S370L;ENSP00000377461:S450L	ENSP00000325393:S450L	S	+	2	0	ZNF559	9314476	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.252000	0.08806	0.078000	0.16900	0.313000	0.20887	TCG	.		0.428	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		T	9453476	C	T	9453476	3	4	62	1	0	0	0	0	1	0	0	0	18038	893	31	1	1363	1	ZNF559	19	9453476	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	181559	9453476	49675507	1288	13656											
ZNF426	79088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	9639084	9639084	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgttcatgtcttcgaagtGaacggggatgactgtaagct	12	6	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9639084G>A	ENST00000535489.1	-	6	1973	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	ZNF426_ENST00000253115.2_Missense_Mutation_p.S546L|ZNF426_ENST00000593003.1_Missense_Mutation_p.S508L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCTTCGAAGTGAACGGGGATG	0.383																																					p.S546L		.											.	ZNF426-91	0			c.C1637T						.						125	107	113					19																	9639084		2203	4300	6503	SO:0001583	missense	79088	exon8			CGAAGTGAACGGG	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1637C>T	19.37:g.9639084G>A	ENSP00000439017:p.Ser546Leu	Somatic	35	0		WXS	Illumina GAIIx	Phase_I	25	12	NM_024106	0	0	1	4	3	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	2.167	-0.390692	0.04932	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.15834	2.39;2.39	0.958	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.54323	1.7	0.09310	N	1	B;P	0.48350	0.207;0.909	B;P	0.48704	0.01;0.587	T	0.22417	-1.0217	9	0.15066	T	0.55	.	6.3336	0.21285	0.0:0.0:0.3237:0.6763	.	533;546	Q59EH4;Q9BUY5	.;ZN426_HUMAN	L	533;546;546	ENSP00000253115:S546L;ENSP00000439017:S546L	ENSP00000253115:S546L	S	-	2	0	ZNF426	9500084	0.009000	0.17119	0.000000	0.03702	0.259000	0.26198	1.032000	0.30178	-0.668000	0.05296	0.460000	0.39030	TCA	.		0.383	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		A	9639084	G	A	9639084	3	1	62	1	0	0	0	0	1	0	0	0	17948	1294	45	3	31	3	ZNF426	19	9639084	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	185608	9639084	49489899	1289	13657											
ICAM1	3383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	10394800	10394801	+	Missense_Mutation	DNP	CC	CC	TT													tgttccctggacgggctgttCccagtctcggaggcccaggt							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10394800_10394801CC>TT	ENST00000264832.3	+	4	1054_1055	c.729_730CC>TT	c.(727-732)ttCCca>ttTTca	p.P244S	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	244	Ig-like C2-type 3.				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)	ACGGGCTGTTCCCAGTCTCGGA	0.644																																					p.P244S		.											.	ICAM1-91	0			c.C730T						.																																			SO:0001583	missense	3383	exon4			CTGTTCCCAGTCT		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		Exception_encountered	19.37:g.10394800_10394801delinsTT	ENSP00000264832:p.Pro244Ser	Somatic	106	0		WXS	Illumina GAIIx	Phase_I	114	15	NM_000201	0	0	0	0	0	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	DNP	ENST00000264832.3	37	CCDS12231.1																																																																																			.		0.644	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			TT	10394801	CC	TT	10394800	3	4	62	1	0	0	0	0	1	0	0	0	7506	854	30	3	743	3	ICAM1	19	10394800	Missense_Mutation	DNP	CC	TCGA-PK-A5HB-01A-11D-A29I-10	755716	10394800	48734183	1290	13658											
RAVER1	125950	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10439472	10439472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgcacgtagagggtgCgtggtcccagcggcttgccc	15	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10439472C>T	ENST00000293677.6	-	3	734	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	201						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R201H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GTAGAGGGTGCGTGGTCCCAG	0.637																																					p.R218H		.											.	RAVER1-91	1	Substitution - Missense(1)	large_intestine(1)	c.G653A						.						28	35	32					19																	10439472		2173	4254	6427	SO:0001583	missense	125950	exon3			AGGGTGCGTGGTC		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.653G>A	19.37:g.10439472C>T	ENSP00000293677:p.Arg218His	Somatic	242	1		WXS	Illumina GAIIx	Phase_I	382	151	NM_133452	0	0	37	69	32	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441782	0.83993	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.20069	2.1	5.07	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.86805	2.84	0.50039	D	0.999845	D	0.89917	1.0	D	0.77557	0.99	T	0.53837	-0.8382	10	0.52906	T	0.07	-32.2627	11.9902	0.53171	0.1737:0.8263:0.0:0.0	.	218	E9PAU2	.	H	218;201	ENSP00000293677:R218H	ENSP00000293677:R218H	R	-	2	0	RAVER1	10300472	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.019000	0.49635	2.357000	0.79964	0.650000	0.86243	CGC	.		0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		T	10439472	C	T	10439472	3	4	62	1	0	0	0	0	1	0	0	0	13139	768	27	1	1661	1	RAVER1	19	10439472	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	44672	10439472	48689511	1291	13659											
PDE4A	5141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10578111	10578111	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccttctccctgcttggagGaccctgtctgtttcagagca	9	15	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10578111G>A	ENST00000352831.6	+	15	2585	c.2475G>A	c.(2473-2475)agG>agA	p.R825R	PDE4A_ENST00000293683.5_Silent_p.R799R|PDE4A_ENST00000380702.2_Silent_p.R803R|PDE4A_ENST00000592685.1_Silent_p.R803R|PDE4A_ENST00000344979.3_Silent_p.R586R|PDE4A_ENST00000440014.2_Silent_p.R764R	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	825					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)	CTGCTTGGAGGACCCTGTCTG	0.657																																					p.R825R		.											.	PDE4A-523	0			c.G2475A						.						71	70	71					19																	10578111		2203	4300	6503	SO:0001819	synonymous_variant	5141	exon15			TTGGAGGACCCTG		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.2475G>A	19.37:g.10578111G>A		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	106	37	NM_001111307	0	0	3	3	0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																			.		0.657	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			A	10578111	G	A	10578111	2	1	62	1	0	0	0	0	0	0	0	1	11678	1165	41	3		3	PDE4A	19	10578111	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	138639	10578111	48550872	1292	13660											
ATG4D	84971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10657607	10657607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcctgcccgctggatgCccccacgctgggcccagggt	15	16	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10657607C>T	ENST00000309469.4	+	4	759	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	196					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			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)			CCGCTGGATGCCCCCACGCTG	0.716																																					p.P196S		.											.	ATG4D-90	0			c.C586T						.						16	17	17					19																	10657607		2194	4293	6487	SO:0001583	missense	84971	exon4			TGGATGCCCCCAC	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.586C>T	19.37:g.10657607C>T	ENSP00000311318:p.Pro196Ser	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	87	39	NM_032885	0	0	24	41	17	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269987	0.59540	.	.	ENSG00000130734	ENST00000309469	.	.	.	5.12	4.04	0.47022	.	0.294861	0.31061	N	0.008339	T	0.61502	0.2352	M	0.63843	1.955	0.46849	D	0.999221	B;B;B	0.29232	0.064;0.077;0.238	B;B;B	0.34590	0.122;0.063;0.186	T	0.63120	-0.6708	9	0.40728	T	0.16	-11.1608	13.8703	0.63615	0.1532:0.8467:0.0:0.0	.	133;219;196	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	S	196	.	ENSP00000311318:P196S	P	+	1	0	ATG4D	10518607	0.000000	0.05858	0.593000	0.28771	0.765000	0.43378	0.514000	0.22786	2.376000	0.81061	0.561000	0.74099	CCC	.		0.716	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		T	10657607	C	T	10657607	3	4	62	1	0	0	0	0	1	0	0	0	1100	739	26	3	600	3	ATG4D	19	10657607	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	79496	10657607	48471376	1293	13661											
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11097117	11097117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaccacctgcagatggCggtgcagggcaagcggccga	15	15	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11097117C>T	ENST00000429416.3	+	5	889	c.608C>T	c.(607-609)gCg>gTg	p.A203V	SMARCA4_ENST00000344626.4_Missense_Mutation_p.A203V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A203V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A203V|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A203V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A203V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	203	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.|QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				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)				CTGCAGATGGCGGTGCAGGGC	0.662			"F, N, Mis"		NSCLC																																p.A203V		.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.C608T						.						14	10	12					19																	11097117		2181	4250	6431	SO:0001583	missense	6597	exon4			AGATGGCGGTGCA	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.608C>T	19.37:g.11097117C>T	ENSP00000395654:p.Ala203Val	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	129	49	NM_003072	0	0	37	57	20	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937968	0.92526	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.88975	-2.45;-2.44;-2.45;-2.43;-2.43;-2.43;-2.43	4.32	4.32	0.51571	Glutamine-Leucine-Glutamine, QLQ (2);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	L	0.58354	1.805	0.58432	D	0.999999	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.74674	0.984;0.984;0.984;0.984;0.984;0.984;0.984	D	0.93602	0.6931	10	0.72032	D	0.01	-28.9405	15.7588	0.78058	0.0:1.0:0.0:0.0	.	203;203;203;203;203;203;203	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	V	203	ENSP00000395654:A203V;ENSP00000350720:A203V;ENSP00000343896:A203V;ENSP00000445036:A203V;ENSP00000392837:A203V;ENSP00000397783:A203V;ENSP00000414727:A203V	ENSP00000343896:A203V	A	+	2	0	SMARCA4	10958117	1.000000	0.71417	0.955000	0.39395	0.971000	0.66376	7.510000	0.81708	2.244000	0.73946	0.462000	0.41574	GCG	.		0.662	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11097117	C	T	11097117	3	4	62	1	0	0	0	0	1	0	0	0	14815	768	27	1	618	1	SMARCA4	19	11097117	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	439510	11097117	48031866	1294	13662											
SMARCA4	6597	hgsc.bcm.edu	37	chr19	11098456	11098456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacccgccgcctcgcccgTgatgccaccgcagacccagt	9	22	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11098456T>C	ENST00000429416.3	+	7	1255	c.974T>C	c.(973-975)gTg>gCg	p.V325A	SMARCA4_ENST00000344626.4_Missense_Mutation_p.V325A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V325A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V325A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V325A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V325A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	325					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)				GCCTCGCCCGTGATGCCACCG	0.746			"F, N, Mis"		NSCLC																																p.V325A		.		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.T974C						.						7	9	8					19																	11098456		2115	4066	6181	SO:0001583	missense	6597	exon6			CGCCCGTGATGCC	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.974T>C	19.37:g.11098456T>C	ENSP00000395654:p.Val325Ala	Somatic	3	0		WXS	Illumina GAIIx	Phase_I	24	7	NM_003072	0	0	15	25	10	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	7.291	0.611044	0.14066	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.08;-2.08;-2.08;-2.08	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	T	0.79203	0.4406	L	0.44542	1.39	0.40882	D	0.984006	B;B;B;B;B;B;B	0.21520	0.005;0.005;0.005;0.057;0.024;0.005;0.005	B;B;B;B;B;B;B	0.12156	0.002;0.002;0.002;0.007;0.003;0.002;0.002	T	0.71794	-0.4485	10	0.05721	T	0.95	-33.9807	12.6908	0.56974	0.0:0.0:0.0:1.0	.	325;325;325;325;325;325;325	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	325	ENSP00000395654:V325A;ENSP00000350720:V325A;ENSP00000343896:V325A;ENSP00000445036:V325A;ENSP00000392837:V325A;ENSP00000397783:V325A;ENSP00000414727:V325A	ENSP00000343896:V325A	V	+	2	0	SMARCA4	10959456	1.000000	0.71417	0.990000	0.47175	0.235000	0.25334	2.531000	0.45650	1.838000	0.53458	0.459000	0.35465	GTG	.		0.746	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11098456	T	C	11098456	3	2	62	1	0	0	0	0	1	0	0	0	14815	1696	59	4	992	4	SMARCA4	19	11098456	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1339	11098456	48030527	1295	13663											
KANK2	25959	hgsc.bcm.edu;broad.mit.edu	37	chr19	11304002	11304002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgggggatcggggaGgtccaggcagagctcgctgc	18	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11304002G>A	ENST00000586659.1	-	4	1068	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	KANK2_ENST00000355150.5_Missense_Mutation_p.L252F|KANK2_ENST00000432929.2_Missense_Mutation_p.L252F|KANK2_ENST00000589359.1_Missense_Mutation_p.L252F|KANK2_ENST00000589894.1_Missense_Mutation_p.L252F			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	252					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATCGGGGAGGTCCAGGCAG	0.657																																					p.L252F		.											.	KANK2-68	0			c.C754T						.						24	27	26					19																	11304002		2200	4296	6496	SO:0001583	missense	25959	exon2			CGGGGAGGTCCAG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.754C>T	19.37:g.11304002G>A	ENSP00000465650:p.Leu252Phe	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	64	4	NM_015493	0	0	23	25	2	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126424	0.56721	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.44482	0.92;0.94	4.11	4.11	0.48088	.	0.182257	0.36268	N	0.002684	T	0.47655	0.1457	L	0.40543	1.245	0.36023	D	0.838894	D;P;D	0.63046	0.964;0.456;0.992	P;B;P	0.59948	0.745;0.121;0.866	T	0.56733	-0.7930	10	0.48119	T	0.1	-25.457	9.4848	0.38922	0.0:0.0:0.654:0.346	.	252;252;252	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	F	252	ENSP00000395650:L252F;ENSP00000347276:L252F	ENSP00000347276:L252F	L	-	1	0	KANK2	11165002	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.662000	0.46766	1.829000	0.53265	0.313000	0.20887	CTC	.		0.657	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		A	11304002	G	A	11304002	3	1	62	1	0	0	0	0	1	0	0	0	8004	1000	35	3	1865	3	KANK2	19	11304002	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	205546	11304002	47824981	1296	13664											
DOCK6	57572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11326127	11326127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgccagcgcacattctccgGattcccaaacgggctcctct	8	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11326127G>T	ENST00000294618.7	-	32	4053	c.4042C>A	c.(4042-4044)Ccg>Acg	p.P1348T	DOCK6_ENST00000319867.7_Missense_Mutation_p.P687T|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1348					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACATTCTCCGGATTCCCAAAC	0.562																																					p.P1348T		.											.	DOCK6-93	0			c.C4042A						.						48	48	48					19																	11326127		2008	4171	6179	SO:0001583	missense	57572	exon32			TCTCCGGATTCCC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4042C>A	19.37:g.11326127G>T	ENSP00000294618:p.Pro1348Thr	Somatic	137	0		WXS	Illumina GAIIx	Phase_I	152	66	NM_020812	0	0	8	11	3	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880206	0.17467	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.38401	1.14;1.14	5.68	5.68	0.88126	.	0.143817	0.47455	D	0.000229	T	0.17492	0.0420	N	0.02539	-0.55	0.47862	D	0.999535	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.16305	-1.0407	10	0.10111	T	0.7	-12.1992	18.5412	0.91029	0.0:0.0:1.0:0.0	.	687;1348	C9IZV6;Q96HP0	.;DOCK6_HUMAN	T	1348;687	ENSP00000294618:P1348T;ENSP00000321556:P687T	ENSP00000294618:P1348T	P	-	1	0	DOCK6	11187127	1.000000	0.71417	0.995000	0.50966	0.197000	0.23852	9.476000	0.97823	2.683000	0.91414	0.591000	0.81541	CCG	.		0.562	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		T	11326127	G	T	11326127	3	4	62	1	0	0	0	0	1	0	0	0	4705	1174	41	3	2169	3	DOCK6	19	11326127	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	22125	11326127	47802856	1297	13665											
EPOR	2057	ucsc.edu;bcgsc.ca	37	chr19	11492756	11492756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtgggagcctggtgcaGgcgacacagcttccatggct	15	12	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11492756G>A	ENST00000222139.6	-	3	381	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	EPOR_ENST00000592375.2_Silent_p.L93L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	93					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCTGGTGCAGGCGACACAGC	0.672																																					p.L93L		.											.	EPOR-523	0			c.C277T						.						33	35	35					19																	11492756		2203	4299	6502	SO:0001819	synonymous_variant	2057	exon3			GGTGCAGGCGACA	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.277C>T	19.37:g.11492756G>A		Somatic	175	3		WXS	Illumina GAIIx	Phase_I	209	97	NM_000121	0	0	11	16	5	B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	CCDS12260.1																																																																																			.		0.672	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			A	11492756	G	A	11492756	2	1	62	1	0	0	0	0	0	0	0	1	5205	991	35	3		3	EPOR	19	11492756	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	166629	11492756	47636227	1298	13666											
ZNF823	55552	broad.mit.edu	37	chr19	11832936	11832936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacattccttacactcAtatggcttctctccagtgtg	5	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11832936A>G	ENST00000341191.6	-	4	1566	c.1413T>C	c.(1411-1413)taT>taC	p.Y471Y	ZNF823_ENST00000545749.1_Silent_p.Y289Y	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTTACACTCATATGGCTTCT	0.388										HNSCC(68;0.2)																											p.Y471Y		.											.	ZNF823-24	0			c.T1413C						.						86	98	94					19																	11832936		2203	4300	6503	SO:0001819	synonymous_variant	55552	exon4			ACACTCATATGGC	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1413T>C	19.37:g.11832936A>G		Somatic	89	0		WXS	Illumina GAIIx	Phase_I	108	4	NM_001080493	0	0	10	10	0	A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	CCDS45981.1																																																																																			.		0.388	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		G	11832936	A	G	11832936	2	3	62	1	0	0	0	0	0	0	0	1	18227	224	8	4		4	ZNF823	19	11832936	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	340180	11832936	47296047	1299	13667											
ZNF441	126068	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	11892031	11892031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaattacattcgagtAcatgaaaagactcacactgg	6	10	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11892031A>G	ENST00000357901.4	+	4	1494	c.1392A>G	c.(1390-1392)gtA>gtG	p.V464V	ZNF441_ENST00000454339.2_Silent_p.V397V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	464					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(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATTCGAGTACATGAAAAGA	0.398																																					p.V464V		.											.	ZNF441-69	0			c.A1392G						.						57	59	59					19																	11892031		2203	4300	6503	SO:0001819	synonymous_variant	126068	exon4			TCGAGTACATGAA	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.1392A>G	19.37:g.11892031A>G		Somatic	44	0		WXS	Illumina GAIIx	Phase_I	47	17	NM_152355	0	0	1	1	0		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																			.		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		G	11892031	A	G	11892031	2	3	62	1	0	0	0	0	0	0	0	1	17962	378	14	4		4	ZNF441	19	11892031	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	59095	11892031	47236952	1300	13668											
ZNF491	126069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	11917409	11917409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacacacaggagagaagcCgtacaaatgtaaggaatgtg	12	7	0	1	rs140071849	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11917409C>T	ENST00000323169.5	+	3	972	c.641C>T	c.(640-642)cCg>cTg	p.P214L	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GGAGAGAAGCCGTACAAATGT	0.428																																					p.P214L		.											.	ZNF491-92	0			c.C641T						.	C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	55	58	57		641	-0.3	0	19	dbSNP_134	57	0,8600		0,0,4300	no	missense	ZNF491	NM_152356.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	214/438	11917409	2,13004	2203	4300	6503	SO:0001583	missense	126069	exon3			AGAAGCCGTACAA	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.641C>T	19.37:g.11917409C>T	ENSP00000313443:p.Pro214Leu	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	44	13	NM_152356	0	0	1	1	0	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	12.55	1.972675	0.34848	4.54E-4	0.0	ENSG00000177599	ENST00000323169	T	0.27557	1.66	0.924	-0.311	0.12761	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25306	0.0615	M	0.71036	2.16	0.09310	N	0.999998	P	0.47962	0.903	B	0.37451	0.25	T	0.22871	-1.0204	9	0.72032	D	0.01	.	3.0928	0.06299	0.2645:0.5497:0.0:0.1858	.	214	Q8N8L2	ZN491_HUMAN	L	214	ENSP00000313443:P214L	ENSP00000313443:P214L	P	+	2	0	ZNF491	11778409	0.000000	0.05858	0.009000	0.14445	0.191000	0.23601	0.631000	0.24568	-0.025000	0.13918	0.498000	0.49722	CCG	C|1.000;T|0.000		0.428	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		T	11917409	C	T	11917409	3	4	62	1	0	0	0	0	1	0	0	0	17990	652	23	1	643	1	ZNF491	19	11917409	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	25378	11917409	47211574	1301	13669											
ZNF700	90592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12060900	12060900	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaatggattcacatcTgccaagattcttcaaataca	8	8	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12060900T>A	ENST00000254321.5	+	4	2204	c.2061T>A	c.(2059-2061)tcT>tcA	p.S687S	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Silent_p.S669S|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GATTCACATCTGCCAAGATTC	0.358																																					p.S690S		.											.	ZNF700-90	0			c.T2070A						.						92	83	86					19																	12060900		2203	4300	6503	SO:0001819	synonymous_variant	90592	exon4			CACATCTGCCAAG	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2061T>A	19.37:g.12060900T>A		Somatic	118	0		WXS	Illumina GAIIx	Phase_I	168	85	NM_001271848	0	0	4	10	6	B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																			.		0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		A	12060900	T	A	12060900	2	1	62	1	0	0	0	0	0	0	0	1	18152	1567	55	5		5	ZNF700	19	12060900	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	143491	12060900	47068083	1302	13670											
ZNF878	729747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12155177	12155177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttgacaaaactgaaggCtttcacacattttttacatt	4	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12155177C>T	ENST00000547628.1	-	4	1176	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A394T|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	347					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAACTGAAGGCTTTCACACAT	0.378																																					p.A347T		.											.	.	0			c.G1039A						.						52	58	56					19																	12155177		2177	4287	6464	SO:0001583	missense	729747	exon4			TGAAGGCTTTCAC		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1039G>A	19.37:g.12155177C>T	ENSP00000447931:p.Ala347Thr	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	36	22	NM_001080404	0	0	0	0	0		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.048003	0.36085	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.16897	2.31	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	N	0.02973	-0.45	0.09310	N	1	D	0.56287	0.975	P	0.56563	0.801	T	0.16188	-1.0411	9	0.26408	T	0.33	.	3.5861	0.07972	0.0:0.5613:0.0:0.4387	.	347	C9JN71	ZN878_HUMAN	T	347;394	ENSP00000447931:A347T	ENSP00000447931:A347T	A	-	1	0	AC022415.4;ZNF878	12016177	0.000000	0.05858	0.031000	0.17742	0.318000	0.28184	-0.171000	0.09883	0.669000	0.31146	0.305000	0.20034	GCC	.		0.378	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		T	12155177	C	T	12155177	3	4	62	1	0	0	0	0	1	0	0	0	18244	797	28	3	560	3	ZNF878	19	12155177	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	94277	12155177	46973806	1303	13671											
ZNF44	51710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12386792	12386792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacagttcaggttcctaaTggtttctcgcatcacatctc	6	11	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12386792T>C	ENST00000356109.5	-	3	371	c.253A>G	c.(253-255)Att>Gtt	p.I85V	ZNF44_ENST00000355684.5_Missense_Mutation_p.I37V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	85	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)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGGTTCCTAATGGTTTCTCGC	0.433																																					p.I85V		.											.	ZNF44-23	0			c.A253G						.						193	205	201					19																	12386792		2203	4300	6503	SO:0001583	missense	51710	exon3			TCCTAATGGTTTC	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.253A>G	19.37:g.12386792T>C	ENSP00000348419:p.Ile85Val	Somatic	133	0		WXS	Illumina GAIIx	Phase_I	159	66	NM_001164276	0	0	0	0	0	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	T	8.063	0.768612	0.15983	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.01685	4.69;4.69;4.69	1.31	0.148	0.14843	Krueppel-associated box (4);	.	.	.	.	T	0.02342	0.0072	N	0.10837	0.055	.	.	.	P;D	0.53151	0.921;0.958	P;D	0.69307	0.751;0.963	T	0.50448	-0.8827	8	0.33141	T	0.24	.	3.2043	0.06659	0.586:0.0:0.0:0.414	.	85;37	P15621;F8W7T7	ZNF44_HUMAN;.	V	85;85;37;37	ENSP00000377008:I85V;ENSP00000348419:I85V;ENSP00000347910:I37V	ENSP00000347910:I37V	I	-	1	0	ZNF44	12247792	0.015000	0.18098	0.758000	0.31321	0.605000	0.37080	0.643000	0.24750	-0.006000	0.14370	0.247000	0.18012	ATT	.		0.433	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		C	12386792	T	C	12386792	3	2	62	1	0	0	0	0	1	0	0	0	17960	1464	51	4	1750	4	ZNF44	19	12386792	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	231615	12386792	46742191	1304	13672											
ZNF563	147837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12430322	12430322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgaaggtttttccacattCcttacactcatagcgtttct	5	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12430322C>T	ENST00000293725.5	-	4	722	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E173K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	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(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCCACATTCCTTACACTCA	0.438																																					p.E173K	GBM(39;623 795 5132 29510 31476)	.											.	ZNF563-90	0			c.G517A						.						232	210	217					19																	12430322		2203	4300	6503	SO:0001583	missense	147837	exon4			CACATTCCTTACA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.517G>A	19.37:g.12430322C>T	ENSP00000293725:p.Glu173Lys	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	210	74	NM_145276	0	0	0	2	2	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183753	0.57800	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.16597	2.33	0.814	-0.807	0.10872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.48935	1.535	0.09310	N	1	P;D	0.69078	0.532;0.997	B;D	0.83275	0.263;0.996	T	0.13098	-1.0522	9	0.49607	T	0.09	.	3.2624	0.06853	0.0:0.5126:0.2798:0.2076	.	173;173	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	K	173	ENSP00000293725:E173K	ENSP00000293725:E173K	E	-	1	0	ZNF563	12291322	0.000000	0.05858	0.033000	0.17914	0.732000	0.41865	-0.026000	0.12392	-0.183000	0.10585	0.313000	0.20887	GAA	.		0.438	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		T	12430322	C	T	12430322	3	4	62	1	0	0	0	0	1	0	0	0	18042	864	30	3	917	3	ZNF563	19	12430322	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	43530	12430322	46698661	1305	13673											
ZNF564	163050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12637692	12637692	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgagttctttcgtgTatttgaaatgaactgggaca	11	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12637692T>A	ENST00000339282.7	-	4	1426	c.1230A>T	c.(1228-1230)atA>atT	p.I410I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCTTTCGTGTATTTGAAATG	0.408																																					p.I410I		.											.	ZNF564-91	0			c.A1230T						.						135	140	138					19																	12637692		2200	4300	6500	SO:0001819	synonymous_variant	163050	exon4			TTCGTGTATTTGA	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1230A>T	19.37:g.12637692T>A		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	126	56	NM_144976	0	0	1	9	8	B9EGT4|Q6P1K6	Silent	SNP	ENST00000339282.7	37	CCDS42505.1																																																																																			.		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		A	12637692	T	A	12637692	2	1	62	1	0	0	0	0	0	0	0	1	18043	1628	57	5		5	ZNF564	19	12637692	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	207370	12637692	46491291	1306	13674											
MAN2B1	4125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	12768936	12768936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgccaggcccaccagcGcctccagctggttgcacacc	11	19	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12768936G>T	ENST00000456935.2	-	10	1290	c.1250C>A	c.(1249-1251)gCg>gAg	p.A417E	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A416E|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	417					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCCACCAGCGCCTCCAGCTG	0.677																																					p.A417E		.											.	MAN2B1-94	0			c.C1250A						.						23	28	26					19																	12768936		2203	4299	6502	SO:0001583	missense	4125	exon10			ACCAGCGCCTCCA		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1250C>A	19.37:g.12768936G>T	ENSP00000395473:p.Ala417Glu	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	117	55	NM_000528	0	0	29	58	29	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417276	0.83449	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83591	-1.74;-1.74	4.95	3.84	0.44239	Glycoside hydrolase, family 38, central domain (2);	0.177969	0.27236	N	0.020294	D	0.87962	0.6310	M	0.83953	2.67	0.40994	D	0.984874	P;D	0.53745	0.919;0.962	P;P	0.57283	0.817;0.804	D	0.88632	0.3170	10	0.62326	D	0.03	-30.1886	8.0267	0.30440	0.1555:0.0:0.8445:0.0	.	416;417	G5E928;O00754	.;MA2B1_HUMAN	E	417;356;416	ENSP00000395473:A417E;ENSP00000221363:A416E	ENSP00000221363:A416E	A	-	2	0	MAN2B1	12629936	0.997000	0.39634	0.994000	0.49952	0.912000	0.54170	2.940000	0.49003	2.295000	0.77249	0.306000	0.20318	GCG	.		0.677	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			T	12768936	G	T	12768936	3	4	62	1	0	0	0	0	1	0	0	0	9254	1087	38	2	1845	2	MAN2B1	19	12768936	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	131244	12768936	46360047	1307	13675											
TRMT1	55621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	13216335	13216335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccggggaccccagttggCctccgggttagcctggaagc	16	13	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:13216335C>T	ENST00000592062.1	-	16	2239	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.A557T|TRMT1_ENST00000357720.4_Missense_Mutation_p.A557T|TRMT1_ENST00000221504.8_Missense_Mutation_p.A528T			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	557							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCCCAGTTGGCCTCCGGGTTA	0.662																																					p.A557T		.											.	TRMT1-92	0			c.G1669A						.						61	72	68					19																	13216335		2203	4300	6503	SO:0001583	missense	55621	exon15			AGTTGGCCTCCGG	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1669G>A	19.37:g.13216335C>T	ENSP00000466967:p.Ala557Thr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	89	34	NM_001136035	0	0	16	34	18	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853352	0.51270	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.09073	3.02;3.02;3.02	4.4	3.34	0.38264	.	0.137128	0.47455	D	0.000226	T	0.18425	0.0442	M	0.82193	2.58	0.46774	D	0.999194	P;B	0.38129	0.619;0.439	P;B	0.46299	0.511;0.23	T	0.03077	-1.1075	10	0.22109	T	0.4	-21.6924	11.906	0.52713	0.0:0.8221:0.1779:0.0	.	528;557	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	T	557;557;528	ENSP00000350352:A557T;ENSP00000416149:A557T;ENSP00000221504:A528T	ENSP00000221504:A528T	A	-	1	0	TRMT1	13077335	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.508000	0.45450	1.048000	0.40298	0.462000	0.41574	GCC	.		0.662	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		T	13216335	C	T	13216335	3	4	62	1	0	0	0	0	1	0	0	0	16609	739	26	3	322	3	TRMT1	19	13216335	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	447399	13216335	45912648	1308	13676											
CACNA1A	773	hgsc.bcm.edu	37	chr19	13397604	13397604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggctctggggcaggCcggcgtggccaaggctgccg	20	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:13397604C>T	ENST00000360228.5	-	20	3265	c.3266G>A	c.(3265-3267)gGc>gAc	p.G1089D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1090D	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	1090					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)	CTGGGGCAGGCCGGCGTGGCC	0.682																																					p.G1090D		.											.	CACNA1A-67	0			c.G3269A						.						13	17	16					19																	13397604		1953	4110	6063	SO:0001583	missense	773	exon20			GGCAGGCCGGCGT	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.3266G>A	19.37:g.13397604C>T	ENSP00000353362:p.Gly1089Asp	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	55	20	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112254	0.37242	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95885	-3.84	5.17	4.11	0.48088	.	1.852710	0.02389	N	0.079494	D	0.94092	0.8106	L	0.40543	1.245	0.09310	N	1	P;P;B	0.40875	0.578;0.731;0.079	B;P;B	0.44359	0.24;0.447;0.051	T	0.82866	-0.0245	10	0.07644	T	0.81	.	14.2748	0.66173	0.1789:0.8211:0.0:0.0	.	1090;1093;1089	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	1089;1093;1090;1090	ENSP00000353362:G1089D	ENSP00000317661:G1090D	G	-	2	0	CACNA1A	13258604	0.922000	0.31269	0.973000	0.42090	0.865000	0.49528	0.412000	0.21131	2.417000	0.82017	0.542000	0.68232	GGC	.		0.682	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13397604	C	T	13397604	3	4	62	1	0	0	0	0	1	0	0	0	2545	739	26	3	4468	3	CACNA1A	19	13397604	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	181269	13397604	45731379	1309	13677											
RFX1	5989	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	14074020	14074020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtactcgtcgtagagcaGccggatgaggtggaaggaac	15	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14074020G>A	ENST00000254325.4	-	19	2872	c.2638C>T	c.(2638-2640)Ctg>Ttg	p.L880L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	880	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCGTAGAGCAGCCGGATGAGG	0.667																																					p.L880L		.											.	RFX1-92	0			c.C2638T						.						77	62	67					19																	14074020		2203	4300	6503	SO:0001819	synonymous_variant	5989	exon19			AGAGCAGCCGGAT		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2638C>T	19.37:g.14074020G>A		Somatic	55	1		WXS	Illumina GAIIx	Phase_I	83	26	NM_002918	0	0	5	8	3		Silent	SNP	ENST00000254325.4	37	CCDS12301.1																																																																																			.		0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		A	14074020	G	A	14074020	2	1	62	1	0	0	0	0	0	0	0	1	13307	962	34	3		3	RFX1	19	14074020	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	676416	14074020	45054963	1310	13678											
LPHN1	22859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	14261780	14261780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcgtggctaggacgccGcacctggtagtagccctgca	13	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14261780G>A	ENST00000340736.6	-	24	4627	c.4330C>T	c.(4330-4332)Cgg>Tgg	p.R1444W	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1439W	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1444					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						CTAGGACGCCGCACCTGGTAG	0.716																																					p.R1444W		.											.	LPHN1-523	0			c.C4330T						.						9	10	9					19																	14261780		2137	4188	6325	SO:0001583	missense	22859	exon24			GACGCCGCACCTG	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.4330C>T	19.37:g.14261780G>A	ENSP00000340688:p.Arg1444Trp	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	110	49	NM_001008701	0	0	11	23	12	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773838	0.49786	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.71103	-0.54;-0.54	3.94	3.94	0.45596	GPCR, family 2, latrophilin, C-terminal (1);	0.092983	0.42821	D	0.000645	T	0.75517	0.3860	L	0.36672	1.1	0.34781	D	0.73469	D;D	0.76494	0.999;0.999	P;D	0.66979	0.886;0.948	T	0.83194	-0.0082	10	0.66056	D	0.02	.	13.4745	0.61301	0.0:0.0:1.0:0.0	.	1439;1444	O94910-2;O94910	.;LPHN1_HUMAN	W	1444;1439	ENSP00000340688:R1444W;ENSP00000355328:R1439W	ENSP00000340688:R1444W	R	-	1	2	LPHN1	14122780	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.963000	0.49184	1.764000	0.52075	0.205000	0.17691	CGG	.		0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14261780	G	A	14261780	3	1	62	1	0	0	0	0	1	0	0	0	8950	1086	38	1	98	1	LPHN1	19	14261780	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	187760	14261780	44867203	1311	13679											
EMR2	30817	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	14865828	14865828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgcaacggcagatggTgctggtgtctctggtgccta	17	8	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14865828T>C	ENST00000315576.3	-	14	1979	c.1528A>G	c.(1528-1530)Acc>Gcc	p.T510A	EMR2_ENST00000601345.1_Missense_Mutation_p.T499A|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.T499A|EMR2_ENST00000346057.1_Missense_Mutation_p.T461A|EMR2_ENST00000353876.1_Missense_Mutation_p.T417A|EMR2_ENST00000594294.1_Missense_Mutation_p.T461A|EMR2_ENST00000596991.2_Missense_Mutation_p.T499A|EMR2_ENST00000594076.1_Missense_Mutation_p.T417A|EMR2_ENST00000353005.1_Missense_Mutation_p.T368A|EMR2_ENST00000595839.1_Missense_Mutation_p.T368A|EMR2_ENST00000392964.3_Missense_Mutation_p.H174R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	510	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CGGCAGATGGTGCTGGTGTCT	0.572																																					p.T510A		.											.	EMR2-524	0			c.A1528G						.						178	134	149					19																	14865828		2203	4300	6503	SO:0001583	missense	30817	exon14			AGATGGTGCTGGT	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1528A>G	19.37:g.14865828T>C	ENSP00000319883:p.Thr510Ala	Somatic	176	1		WXS	Illumina GAIIx	Phase_I	244	100	NM_013447	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.94|10.94	1.491726|1.491726	0.26774|0.26774	.|.	.|.	ENSG00000127507|ENSG00000127507	ENST00000392964|ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T|T;T;T;T;T	0.37058|0.74737	1.22|-0.87;-0.87;-0.87;-0.87;-0.87	4.05|4.05	4.05|4.05	0.47172|0.47172	.|GPS domain (3);	.|.	.|.	.|.	.|.	D|D	0.85146|0.85146	0.5630|0.5630	M|M	0.83118|0.83118	2.625|2.625	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;0.999;1.0;1.0	.|D;D;D;D;D;D;D	.|0.87578	.|0.992;0.996;0.996;0.997;0.996;0.998;0.99	D|D	0.86589|0.86589	0.1859|0.1859	7|9	0.87932|0.87932	D|D	0|0	.|.	9.9468|9.9468	0.41613|0.41613	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|417;510;368;461;510;510;499	.|Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.|.;.;.;.;.;EMR2_HUMAN;.	R|A	174|510;499;461;417;368	ENSP00000376691:H174R|ENSP00000319883:T510A;ENSP00000376694:T499A;ENSP00000263380:T461A;ENSP00000319454:T417A;ENSP00000319838:T368A	ENSP00000376691:H174R|ENSP00000319883:T510A	H|T	-|-	2|1	0|0	EMR2|EMR2	14726828|14726828	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.050000|0.050000	0.14768|0.14768	2.779000|2.779000	0.47734|0.47734	1.763000|1.763000	0.52060|0.52060	0.416000|0.416000	0.27883|0.27883	CAC|ACC	.		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			C	14865828	T	C	14865828	3	2	62	1	0	0	0	0	1	0	0	0	5121	1696	59	4	975	4	EMR2	19	14865828	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	604048	14865828	44263155	1312	13680											
OR7A17	26333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14991440	14991440	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagacaactgagaggtgtGatgcacaggtggaaaatgcc	14	6	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14991440G>A	ENST00000327462.2	-	1	824	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGAGAGGTGTGATGCACAGGT	0.483																																					p.S243L		.											.	OR7A17-68	0			c.C728T						.						111	96	101					19																	14991440		2203	4300	6503	SO:0001583	missense	26333	exon1			AGGTGTGATGCAC	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.728C>T	19.37:g.14991440G>A	ENSP00000328144:p.Ser243Leu	Somatic	160	0		WXS	Illumina GAIIx	Phase_I	177	64	NM_030901	0	0	0	0	0	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	13.41	2.228346	0.39399	.	.	ENSG00000185385	ENST00000327462	T	0.38560	1.13	3.37	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001649	T	0.76456	0.3990	H	0.99454	4.575	0.21841	N	0.99951	P	0.46621	0.881	D	0.65773	0.938	T	0.69942	-0.5008	10	0.87932	D	0	.	10.003	0.41940	0.0:0.0:0.7966:0.2034	.	243	O14581	OR7AH_HUMAN	L	243	ENSP00000328144:S243L	ENSP00000328144:S243L	S	-	2	0	OR7A17	14852440	0.989000	0.36119	0.622000	0.29159	0.006000	0.05464	5.131000	0.64751	0.766000	0.33244	0.454000	0.30748	TCA	.		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991440	G	A	14991440	3	1	62	1	0	0	0	0	1	0	0	0	11254	1294	45	3	203	3	OR7A17	19	14991440	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	125612	14991440	44137543	1313	13681											
SYDE1	85360	hgsc.bcm.edu	37	chr19	15221496	15221496	+	Frame_Shift_Del	DEL	C	C	-													agcggccccccggccaggtgCccctcatcatccagaagtgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15221496delC	ENST00000342784.2	+	4	1271	c.1240delC	c.(1240-1242)cccfs	p.P414fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.P347fs|SYDE1_ENST00000600252.1_Frame_Shift_Del_p.P71fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGGCCAGGTGCCCCTCATCAT	0.706																																					p.P414fs		.											.	SYDE1-92	0			c.1240delC						.						11	14	13					19																	15221496		2192	4274	6466	SO:0001589	frameshift_variant	85360	exon4			CAGGTGCCCCTCA	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1240delC	19.37:g.15221496delC	ENSP00000341489:p.Pro414fs	Somatic	35	1		WXS	Illumina GAIIx	Phase_I	129	53	NM_033025	0	0	0	0	0	Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	CCDS12324.1																																																																																			.		0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		-	15221496	C	-	15221496	7	5	62	1	0	1	0	1	0	0	0	0	15482	739	26	0	1254	0	SYDE1	19	15221496	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	230056	15221496	43907487	1314	13682											
WIZ	58525	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	15535673	15535673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgtagctgcggtaggCgcccaccttctggggccggt	16	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15535673C>T	ENST00000389282.4	-	8	4564	c.4351G>A	c.(4351-4353)Gcc>Acc	p.A1451T	WIZ_ENST00000599686.3_Missense_Mutation_p.A635T|WIZ_ENST00000599910.2_Missense_Mutation_p.A768T|WIZ_ENST00000545156.1_Missense_Mutation_p.A765T|WIZ_ENST00000263381.7_Missense_Mutation_p.A594T			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1451					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						CTGCGGTAGGCGCCCACCTTC	0.672																																					p.A594T		.											.	WIZ-68	0			c.G1780A						.						11	14	13					19																	15535673		1933	4100	6033	SO:0001583	missense	58525	exon6			GGTAGGCGCCCAC	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.4351G>A	19.37:g.15535673C>T	ENSP00000373933:p.Ala1451Thr	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	158	11	NM_021241	0	0	30	30	0	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.466065	0.84425	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.03004	4.08	5.56	4.52	0.55395	.	0.255352	0.38058	N	0.001834	T	0.09686	0.0238	N	0.24115	0.695	0.39149	D	0.962193	P;D;D	0.89917	0.76;1.0;1.0	B;D;D	0.75484	0.125;0.986;0.912	T	0.28808	-1.0032	10	0.54805	T	0.06	-13.7399	15.4372	0.75155	0.0:0.8602:0.1397:0.0	.	1451;594;635	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	T	1451;594;635;765	ENSP00000373933:A1451T	ENSP00000263381:A594T	A	-	1	0	WIZ	15396673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.515000	0.67049	1.337000	0.45525	-0.172000	0.13284	GCC	.		0.672	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		T	15535673	C	T	15535673	3	4	62	1	0	0	0	0	1	0	0	0	17424	768	27	1	616	1	WIZ	19	15535673	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	314177	15535673	43593310	1315	13683											
CYP4F12	66002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15794437	15794437	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttccacagggcctgccGcctggtgcatgacttcacag	12	15	1	1	rs536388045		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15794437G>C	ENST00000550308.1	+	7	1162	c.782G>C	c.(781-783)cGc>cCc	p.R261P	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R261P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	261					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGGGCCTGCCGCCTGGTGCAT	0.552																																					p.R261P		.											.	CYP4F12-95	1	Substitution - Missense(1)	lung(1)	c.G782C						.						82	84	83					19																	15794437		2198	4295	6493	SO:0001583	missense	66002	exon7			CCTGCCGCCTGGT	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.782G>C	19.37:g.15794437G>C	ENSP00000448998:p.Arg261Pro	Somatic	139	0		WXS	Illumina GAIIx	Phase_I	139	63	NM_023944	0	0	0	0	0	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323866	0.24080	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69040	-0.37;-0.37	2.47	-0.991	0.10235	.	0.966802	0.08465	U	0.941844	T	0.77315	0.4112	M	0.82193	2.58	0.20563	N	0.999883	P	0.46656	0.882	P	0.58577	0.841	T	0.65224	-0.6220	10	0.66056	D	0.02	.	6.1319	0.20209	0.6022:0.0:0.3978:0.0	.	261	Q9HCS2	CP4FC_HUMAN	P	261	ENSP00000448998:R261P;ENSP00000321821:R261P	ENSP00000321821:R261P	R	+	2	0	CYP4F12	15655437	0.741000	0.28217	0.859000	0.33776	0.077000	0.17291	0.793000	0.26944	-0.141000	0.11374	-0.320000	0.08662	CGC	.		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			C	15794437	G	C	15794437	3	2	62	1	0	0	0	0	1	0	0	0	4196	1087	38	2	804	2	CYP4F12	19	15794437	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	258764	15794437	43334546	1316	13684											
HAUS8	93323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17170457	17170457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtctttttgacgatgctTttgtctaagataaagcacag	10	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17170457T>A	ENST00000253669.5	-	6	520	c.330A>T	c.(328-330)aaA>aaT	p.K110N	HAUS8_ENST00000448593.2_Missense_Mutation_p.K109N|HAUS8_ENST00000593360.1_Missense_Mutation_p.K49N			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	110					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGACGATGCTTTTGTCTAAGA	0.393																																					p.K110N		.											.	HAUS8-90	0			c.A330T						.						125	121	123					19																	17170457		2203	4300	6503	SO:0001583	missense	93323	exon6			GATGCTTTTGTCT	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.330A>T	19.37:g.17170457T>A	ENSP00000253669:p.Lys110Asn	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	62	29	NM_033417	0	0	0	0	0	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533623	0.45073	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.43688	0.94;0.94	2.84	0.691	0.18045	.	0.276125	0.33534	N	0.004801	T	0.42630	0.1211	L	0.51422	1.61	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.54431	0.752;0.752;0.752	T	0.30297	-0.9983	10	0.72032	D	0.01	-3.266	4.6477	0.12580	0.0:0.2986:0.0:0.7014	.	49;109;110	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	N	110;109	ENSP00000253669:K110N;ENSP00000395298:K109N	ENSP00000253669:K110N	K	-	3	2	HAUS8	17031457	0.057000	0.20700	0.177000	0.23020	0.114000	0.19823	-0.373000	0.07494	0.080000	0.16959	0.459000	0.35465	AAA	.		0.393	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		A	17170457	T	A	17170457	3	1	62	1	0	0	0	0	1	0	0	0	6999	1838	64	5	926	5	HAUS8	19	17170457	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1376020	17170457	41958526	1317	13685											
MYO9B	4650	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	17317488	17317488	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaccccactgcctgcagAgctgccggagaagcaggagc	12	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17317488A>T	ENST00000594824.1	+	34	5534	c.5387A>T	c.(5386-5388)gAg>gTg	p.E1796V	MYO9B_ENST00000397274.2_Splice_Site_p.E1796V|MYO9B_ENST00000595618.1_Splice_Site_p.E1796V|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1796	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCCTGCAGAGCTGCCGGAG	0.602																																					p.E1796V		.											.	MYO9B-67	0			c.A5387T						.						41	45	44					19																	17317488		2176	4265	6441	SO:0001630	splice_region_variant	4650	exon34			CTGCAGAGCTGCC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5387-1A>T	19.37:g.17317488A>T		Somatic	116	2		WXS	Illumina GAIIx	Phase_I	159	66	NM_001130065	0	0	0	1	1	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	14.81	2.645714	0.47258	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	T	0.20200	2.09	4.5	4.5	0.54988	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.52532	D	0.000080	T	0.44180	0.1281	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.36841	-0.9731	9	.	.	.	.	12.9921	0.58625	1.0:0.0:0.0:0.0	.	1796;1796;1802	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	V	1796;141	ENSP00000380444:E1796V	.	E	+	2	0	MYO9B	17178488	1.000000	0.71417	0.994000	0.49952	0.079000	0.17450	7.382000	0.79729	1.687000	0.51057	0.402000	0.26972	GAG	.		0.602	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Missense_Mutation	T	17317488	A	T	17317488	5	4	62	1	0	0	0	0	0	0	1	0	10123	318	11	5	5517	5	MYO9B	19	17317488	Splice_Site	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	147031	17317488	41811495	1318	13686											
PGLS	25796	hgsc.bcm.edu	37	chr19	17622614	17622614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgtttcgcgctcggcCtgtcgggcgggagcctcgtc	16	16	0	0	rs11086075	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2	2	2		133	2.6	1	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	29	12	NM_012088	0	0	15	29	14		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			T	17622614	C	T	17622614	2	4	62	1	0	0	0	0	0	0	0	1	11831	680	24	3		3	PGLS	19	17622614	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	305126	17622614	41506369	1319	13687											
MAP1S	55201	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	17844087	17844087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacctgcccagcgggagCagcgcccacctggtggatga	14	15	0	1	rs113822615	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17844087C>T	ENST00000324096.4	+	6	3025	c.2874C>T	c.(2872-2874)agC>agT	p.S958S	MAP1S_ENST00000544059.2_Silent_p.S932S|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	958	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCAGCGGGAGCAGCGCCCACC	0.711																																					p.S958S		.											.	MAP1S-90	0			c.C2874T						.	C		6,4382		0,6,2188	30	25	27		2874	2.4	0	19	dbSNP_132	27	0,8584		0,0,4292	no	coding-synonymous	MAP1S	NM_018174.4		0,6,6480	TT,TC,CC		0.0,0.1367,0.0463		958/1060	17844087	6,12966	2194	4292	6486	SO:0001819	synonymous_variant	55201	exon6			CGGGAGCAGCGCC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2874C>T	19.37:g.17844087C>T		Somatic	182	0		WXS	Illumina GAIIx	Phase_I	336	21	NM_018174	0	0	36	39	3	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																			C|0.500;T|0.500		0.711	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17844087	C	T	17844087	2	4	62	1	0	0	0	0	0	0	0	1	9272	709	25	3		3	MAP1S	19	17844087	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	221473	17844087	41284896	1320	13688											
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	17953936	17953936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acactcaccctgctccttgaGactgaggcccacggggaggc	12	15	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17953936G>A	ENST00000527670.1	-	4	495	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	JAK3_ENST00000534444.1_Missense_Mutation_p.L156F|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.L156F			P52333	JAK3_HUMAN	Janus kinase 3	156	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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)	TGCTCCTTGAGACTGAGGCCC	0.677		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.L156F		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	JAK3-2418	0			c.C466T						.						17	17	17					19																	17953936		2201	4295	6496	SO:0001583	missense	3718	exon5			CCTTGAGACTGAG	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.466C>T	19.37:g.17953936G>A	ENSP00000432511:p.Leu156Phe	Somatic	65	1		WXS	Illumina GAIIx	Phase_I	107	44	NM_000215	0	0	0	0	0	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997398	0.74818	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.73258	-0.73;-0.73;-0.73	4.92	1.36	0.22044	Band 4.1 domain (1);FERM domain (1);	0.370456	0.24479	N	0.038171	T	0.75583	0.3869	M	0.68952	2.095	0.37655	D	0.922571	D;D;P	0.63046	0.992;0.974;0.922	P;P;P	0.60068	0.868;0.847;0.494	T	0.75687	-0.3231	10	0.54805	T	0.06	-21.0373	7.01	0.24857	0.0851:0.0:0.6119:0.303	.	156;156;156	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	F	156	ENSP00000391676:L156F;ENSP00000432511:L156F;ENSP00000436421:L156F	ENSP00000413248:L156F	L	-	1	0	JAK3	17814936	0.974000	0.33945	0.944000	0.38274	0.787000	0.44495	1.595000	0.36708	0.484000	0.27630	0.485000	0.47835	CTC	.		0.677	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17953936	G	A	17953936	3	1	62	1	0	0	0	0	1	0	0	0	7966	942	33	3	2988	3	JAK3	19	17953936	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	109849	17953936	41175047	1321	13689											
PDE4C	5143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	18331093	18331093	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggagcggctggtttcggAcaggtgggtcaactcccggt	16	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:18331093A>T	ENST00000355502.3	-	11	1616	c.745T>A	c.(745-747)Tcc>Acc	p.S249T	PDE4C_ENST00000597297.1_Missense_Mutation_p.S19T|PDE4C_ENST00000447275.3_Missense_Mutation_p.S143T|PDE4C_ENST00000598111.2_Missense_Mutation_p.S19T|PDE4C_ENST00000594617.3_Missense_Mutation_p.S249T|PDE4C_ENST00000539010.1_Missense_Mutation_p.S18T|PDE4C_ENST00000262805.12_Missense_Mutation_p.S217T|PDE4C_ENST00000594465.3_Missense_Mutation_p.S249T|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGTTTCGGACAGGTGGGTC	0.597																																					p.S249T		.											.	PDE4C-94	0			c.T745A						.						96	101	99					19																	18331093		2203	4300	6503	SO:0001583	missense	5143	exon8			TTTCGGACAGGTG		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.745T>A	19.37:g.18331093A>T	ENSP00000347689:p.Ser249Thr	Somatic	208	0		WXS	Illumina GAIIx	Phase_I	225	80	NM_000923	0	0	0	0	0	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631406	0.87660	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.73152	-0.72;-0.7;-0.71;-0.37	4.83	4.83	0.62350	.	0.226740	0.38720	N	0.001595	D	0.85860	0.5795	M	0.92268	3.29	0.39812	D	0.972719	D;D;D;D	0.62365	0.973;0.991;0.969;0.985	P;D;P;P	0.64410	0.638;0.925;0.83;0.777	D	0.89685	0.3893	10	0.87932	D	0	.	12.3551	0.55171	1.0:0.0:0.0:0.0	.	249;217;55;19	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	T	328;249;237;217;143;55;18;18;358	ENSP00000347689:S249T;ENSP00000262805:S217T;ENSP00000402091:S143T;ENSP00000439470:S18T	ENSP00000262805:S217T	S	-	1	0	PDE4C	18192093	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	7.030000	0.76484	1.823000	0.53134	0.398000	0.26397	TCC	.		0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18331093	A	T	18331093	3	4	62	1	0	0	0	0	1	0	0	0	11680	275	10	5	1429	5	PDE4C	19	18331093	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	377157	18331093	40797890	1322	13690											
GDF1	2657	hgsc.bcm.edu	37	chr19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgccccgcggccgagGcaggctccgaggcccgggtg	18	15	0	0	rs4808863	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2	2	2					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"Endogenous ligands"	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	7	7	NM_001492	0	0	0	6	6	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		A	18980172	G	A	18980172	3	1	62	1	0	0	0	0	1	0	0	0	6336	1203	42	3	769	3	GDF1	19	18980172	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	649079	18980172	40148811	1323	13691											
SFRS14	10147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19115190	19115190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccctccaggagcgggggCctcctctcccccatcctcat	9	21	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19115190C>A	ENST00000601879.1	-	7	3013	c.2716G>T	c.(2716-2718)Gcc>Tcc	p.A906S	SUGP2_ENST00000456085.2_Missense_Mutation_p.A675S|SUGP2_ENST00000337018.6_Missense_Mutation_p.A906S|SUGP2_ENST00000452918.2_Missense_Mutation_p.A906S|SUGP2_ENST00000600377.1_Missense_Mutation_p.A920S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	906					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGAGCGGGGGcctcctctccc	0.692																																					p.A906S		.											.	SUGP2-91	0			c.G2716T						.						29	30	30					19																	19115190		2203	4300	6503	SO:0001583	missense	10147	exon7			CGGGGGCCTCCTC	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2716G>T	19.37:g.19115190C>A	ENSP00000472286:p.Ala906Ser	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	77	34	NM_014884	1	0	9	21	11	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846352	0.16963	.	.	ENSG00000064607	ENST00000337018;ENST00000452918;ENST00000456085	T;T;T	0.12255	2.89;2.89;2.7	4.52	1.17	0.20885	.	1.376180	0.04828	N	0.438232	T	0.05914	0.0154	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.25667	0.131;0.131;0.131	B;B;B	0.22386	0.039;0.039;0.039	T	0.33599	-0.9862	10	0.09590	T	0.72	-4.2155	7.8795	0.29614	0.0:0.732:0.0:0.268	.	675;906;906	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	S	906;906;675	ENSP00000337926:A906S;ENSP00000389380:A906S;ENSP00000409603:A675S	ENSP00000337926:A906S	A	-	1	0	SUGP2	18976190	0.000000	0.05858	0.054000	0.19295	0.188000	0.23474	-1.172000	0.03112	0.546000	0.28920	-0.222000	0.12452	GCC	.		0.692	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		A	19115190	C	A	19115190	3	1	62	1	0	0	0	0	1	0	0	0	14215	739	26	3	548	3	SFRS14	19	19115190	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	135018	19115190	40013793	1324	13692											
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19337773	19337773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccacctcagaggctgcagtGaaccaaatggagcctccgtt	10	14	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19337773G>A	ENST00000252575.6	+	7	1650	c.1551G>A	c.(1549-1551)gtG>gtA	p.V517V	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	517					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGGCTGCAGTGAACCAAATGG	0.637																																					p.V517V		.											.	NCAN-94	0			c.G1551A						.						17	21	20					19																	19337773		2176	4246	6422	SO:0001819	synonymous_variant	1463	exon7			TGCAGTGAACCAA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1551G>A	19.37:g.19337773G>A		Somatic	84	0		WXS	Illumina GAIIx	Phase_I	93	45	NM_004386	0	0	0	0	0	Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																			.		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19337773	G	A	19337773	2	1	62	1	0	0	0	0	0	0	0	1	10243	1277	45	3		3	NCAN	19	19337773	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	222583	19337773	39791210	1325	13693											
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	19338131	19338131	+	Frame_Shift_Del	DEL	C	C	-													ccccagagccctggctgtggCcccctaccatggtcccaccc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19338131delC	ENST00000252575.6	+	8	1801	c.1702delC	c.(1702-1704)cccfs	p.P569fs	NCAN_ENST00000538881.1_Frame_Shift_Del_p.P20fs	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	569					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGGCTGTGGCCCCCTACCAT	0.612																																					p.P568fs		.											.	NCAN-94	0			c.1702delC						.						68	76	73					19																	19338131		2203	4300	6503	SO:0001589	frameshift_variant	1463	exon8			CTGTGGCCCCCTA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1702delC	19.37:g.19338131delC	ENSP00000252575:p.Pro569fs	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	31	12	NM_004386	0	0	0	0	0	Q9UPK6	Frame_Shift_Del	DEL	ENST00000252575.6	37	CCDS12397.1																																																																																			.		0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		-	19338131	C	-	19338131	7	5	62	1	0	1	0	1	0	0	0	0	10243	739	26	0	1728	0	NCAN	19	19338131	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	358	19338131	39790852	1326	13694											
GMIP	51291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19744710	19744710	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggggctgggagtctgggtCaaggtgcgggggtggcggtt	24	5	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19744710C>T	ENST00000203556.4	-	19	2511	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.D766N|GMIP_ENST00000445806.2_Missense_Mutation_p.D763N	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	792	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						gagtctgggtcaaggtgcggg	0.697																																					p.D792N		.											.	GMIP-91	0			c.G2374A						.						9	11	10					19																	19744710		2179	4252	6431	SO:0001583	missense	51291	exon19			CTGGGTCAAGGTG	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2374G>A	19.37:g.19744710C>T	ENSP00000203556:p.Asp792Asn	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	54	26	NM_016573	0	0	3	5	2	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	5.033	0.191705	0.09547	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20463	2.07;2.07	3.24	1.09	0.20402	.	1.404820	0.04996	N	0.468276	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.0;0.009;0.023	B;B;B	0.15870	0.001;0.01;0.014	T	0.32295	-0.9912	10	0.17832	T	0.49	0.7108	5.5341	0.17001	0.0:0.7405:0.0:0.2595	.	763;766;792	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	N	792;763	ENSP00000203556:D792N;ENSP00000397075:D763N	ENSP00000203556:D792N	D	-	1	0	GMIP	19605710	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.228000	0.09114	0.392000	0.25172	0.655000	0.94253	GAC	.		0.697	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		T	19744710	C	T	19744710	3	4	62	1	0	0	0	0	1	0	0	0	6517	826	29	3	550	3	GMIP	19	19744710	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	406579	19744710	39384273	1327	13695											
GMIP	51291	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	19748233	19748233	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcgggggcggcggggcCtcgggccgcagcgcccgtac	22	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19748233C>G	ENST00000203556.4	-	11	1202	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.E355D|GMIP_ENST00000445806.2_Missense_Mutation_p.E355D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	355	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						gcggcggggcctcgggccgca	0.716																																					p.E355D		.											.	GMIP-91	0			c.G1065C						.						3	4	4					19																	19748233		1878	3738	5616	SO:0001583	missense	51291	exon11			CGGGGCCTCGGGC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1065G>C	19.37:g.19748233C>G	ENSP00000203556:p.Glu355Asp	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	24	9	NM_016573	0	0	1	1	0	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864862	0.17250	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.40756	1.02;1.02	4.42	1.02	0.19986	.	0.927753	0.08920	N	0.874561	T	0.20455	0.0492	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.28522	-1.0041	10	0.14252	T	0.57	-2.9274	4.5197	0.11954	0.0:0.5329:0.1775:0.2897	.	355;355;355	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	D	355	ENSP00000203556:E355D;ENSP00000397075:E355D	ENSP00000203556:E355D	E	-	3	2	GMIP	19609233	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.150000	0.10189	0.092000	0.17331	-0.258000	0.10820	GAG	.		0.716	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		G	19748233	C	G	19748233	3	3	62	1	0	0	0	0	1	0	0	0	6517	680	24	3	1891	3	GMIP	19	19748233	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3523	19748233	39380750	1328	13696											
ZNF486	90649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	20307780	20307780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttctttcagttgtgtgTtctcattttgcccaagacct	7	9	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:20307780T>C	ENST00000335117.8	+	4	318	c.261T>C	c.(259-261)tgT>tgC	p.C87C	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C78*(1)|p.C87*(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTTGTGTGTTCTCATTTTG	0.308																																					p.C87C		.											.	ZNF486-47	2	Substitution - Nonsense(2)	endometrium(2)	c.T261C						.						57	59	59					19																	20307780		2169	4280	6449	SO:0001819	synonymous_variant	90649	exon4			TGTGTGTTCTCAT	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.261T>C	19.37:g.20307780T>C		Somatic	80	0		WXS	Illumina GAIIx	Phase_I	93	41	NM_052852	0	0	0	0	0	Q0VG00	Silent	SNP	ENST00000335117.8	37	CCDS46029.1																																																																																			.		0.308	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		C	20307780	T	C	20307780	2	2	62	1	0	0	0	0	0	0	0	1	17987	1731	60	4		4	ZNF486	19	20307780	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	559547	20307780	38821203	1329	13697											
RGS9BP	388531	hgsc.bcm.edu	37	chr19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggacatgcgacgcGcgctggagctgggcgccgcg	19	12	0	0	rs259290	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2	2	2		286	3.5	1	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	5	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		T	33167455	G	T	33167455	3	4	62	1	0	0	0	0	1	0	0	0	13359	1087	38	2	288	2	RGS9BP	19	33167455	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	12859675	33167455	25961528	1330	13698											
LRP3	4037	hgsc.bcm.edu	37	chr19	33696354	33696354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggggcgcgctccacgcgCtgcctgcctgtggagcggcg	18	15	0	0	rs3745977	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:33696354C>T	ENST00000253193.7	+	5	880	c.678C>T	c.(676-678)cgC>cgT	p.R226R	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	226	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCTCCACGCGCTGCCTGCCTG	0.756													C|||	253	0.0505192	0.0098	0.0764	5008	,	,		12161	0.121		0.0447	False		,,,				2504	0.0204				p.R226R		.											.	LRP3-92	0			c.C678T						.	C		95,4097		1,93,2002	7	9	8		678	-0.2	1	19	dbSNP_107	8	408,7832		13,382,3725	no	coding-synonymous	LRP3	NM_002333.3		14,475,5727	TT,TC,CC		4.9515,2.2662,4.046		226/771	33696354	503,11929	2096	4120	6216	SO:0001819	synonymous_variant	4037	exon5			CACGCGCTGCCTG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.678C>T	19.37:g.33696354C>T		Somatic	1	0		WXS	Illumina GAIIx	Phase_I	38	21	NM_002333	0	0	9	25	16	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																			C|0.945;T|0.055		0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33696354	C	T	33696354	2	4	62	1	0	0	0	0	0	0	0	1	8993	784	28	3		3	LRP3	19	33696354	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	528899	33696354	25432629	1331	13699											
CHST8	64377	hgsc.bcm.edu	37	chr19	34263134	34263134	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctggatggccgctgggtCagcctgcaccggagccagca	15	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34263134C>T	ENST00000262622.4	+	4	1199	c.441C>T	c.(439-441)gtC>gtT	p.V147V	CHST8_ENST00000438847.3_Silent_p.V147V|CHST8_ENST00000434302.1_Silent_p.V147V	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	147					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCGCTGGGTCAGCCTGCACC	0.716																																					p.V147V		.											.	CHST8-156	0			c.C441T						.						6	7	7					19																	34263134		2065	4048	6113	SO:0001819	synonymous_variant	64377	exon5			CTGGGTCAGCCTG	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.441C>T	19.37:g.34263134C>T		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	54	30	NM_001127895	0	0	0	0	0	Q9H3N2	Silent	SNP	ENST00000262622.4	37	CCDS12433.1																																																																																			.		0.716	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		T	34263134	C	T	34263134	2	4	62	1	0	0	0	0	0	0	0	1	3417	813	29	3		3	CHST8	19	34263134	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	566780	34263134	24865849	1332	13700											
LSM14A	26065	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	34687595	34687595	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgggttcttatggacctttCggcaggatgcccacatacag	11	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34687595C>T	ENST00000433627.5	+	3	417	c.342C>T	c.(340-342)ttC>ttT	p.F114F	LSM14A_ENST00000540746.2_Silent_p.F114F|LSM14A_ENST00000544216.3_Silent_p.F114F	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	114					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATGGACCTTTCGGCAGGATGC	0.433																																					p.F114F		.											.	LSM14A-91	0			c.C342T						.						202	181	188					19																	34687595		2203	4300	6503	SO:0001819	synonymous_variant	26065	exon3			ACCTTTCGGCAGG	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.342C>T	19.37:g.34687595C>T		Somatic	156	1		WXS	Illumina GAIIx	Phase_I	121	46	NM_001114093	0	0	37	76	39	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																			.		0.433	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		T	34687595	C	T	34687595	2	4	62	1	0	0	0	0	0	0	0	1	9089	883	31	1		1	LSM14A	19	34687595	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	424461	34687595	24441388	1333	13701											
UBA2	10054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	34941214	34941214	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaatggacaaactAtggcggaaaaggaaacctcc	10	9	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34941214A>G	ENST00000246548.4	+	9	886	c.816A>G	c.(814-816)ctA>ctG	p.L272L	UBA2_ENST00000439527.2_Silent_p.L176L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	272					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGGACAAACTATGGCGGAAAA	0.388																																					p.L272L		.											.	UBA2-227	0			c.A816G						.						110	103	105					19																	34941214		2203	4300	6503	SO:0001819	synonymous_variant	10054	exon9			CAAACTATGGCGG	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.816A>G	19.37:g.34941214A>G		Somatic	131	0		WXS	Illumina GAIIx	Phase_I	195	85	NM_005499	0	0	47	78	31	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	CCDS12439.1																																																																																			.		0.388	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		G	34941214	A	G	34941214	2	3	62	1	0	0	0	0	0	0	0	1	16877	436	16	4		4	UBA2	19	34941214	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	253619	34941214	24187769	1334	13702											
SCGBL	284402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35085231	35085231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatcaaacacaacattcGcaagcagtttatcgatatcc	4	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35085231G>A	ENST00000601241.1	-	3	2195	c.95C>T	c.(94-96)gCg>gTg	p.A32V	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.A32V|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	32						extracellular region (GO:0005576)		p.A32V(1)									CACAACATTCGCAAGCAGTTT	0.512																																					p.A32V		.											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95T						.						120	104	109					19																	35085231		2203	4300	6503	SO:0001583	missense	284402	exon2			ACATTCGCAAGCA	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.95C>T	19.37:g.35085231G>A	ENSP00000469876:p.Ala32Val	Somatic	138	0		WXS	Illumina GAIIx	Phase_I	151	69	NM_001025591	0	0	0	0	0		Missense_Mutation	SNP	ENST00000601241.1	37	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.545760	0.00926	.	.	ENSG00000205209	ENST00000379204	T	0.13196	2.61	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.09377	0.004	T	0.38672	-0.9650	7	0.87932	D	0	.	.	.	.	.	32	Q4G0G5	SCGBL_HUMAN	V	32	ENSP00000368502:A32V	ENSP00000368502:A32V	A	-	2	0	SCGBL	39777071	0.024000	0.19004	0.052000	0.19188	0.052000	0.14988	-1.416000	0.02467	-1.443000	0.01953	-1.435000	0.01079	GCG	.		0.512	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		A	35085231	G	A	35085231	3	1	62	1	0	0	0	0	1	0	0	0	13947	1087	38	1	203	1	SCGBL	19	35085231	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	144017	35085231	24043752	1335	13703											
LGI4	163175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35625482	35625482	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacagggcgctgtcttTagagcaggagcagcgcaggg	15	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35625482T>A	ENST00000310123.3	-	1	622	c.103A>T	c.(103-105)Aaa>Taa	p.K35*	LGI4_ENST00000392225.3_Nonsense_Mutation_p.K35*|LGI4_ENST00000591633.1_Nonsense_Mutation_p.K35*|LGI4_ENST00000493050.1_Intron	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	35					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGCTGTCTTTAGAGCAGGAG	0.662																																					p.K35X		.											.	LGI4-91	0			c.A103T						.						38	40	39					19																	35625482		2194	4294	6488	SO:0001587	stop_gained	163175	exon1			TGTCTTTAGAGCA	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.103A>T	19.37:g.35625482T>A	ENSP00000312273:p.Lys35*	Somatic	152	0		WXS	Illumina GAIIx	Phase_I	189	83	NM_139284	0	0	4	4	0	B2RN53|B9EGS7|Q5M8T1	Nonsense_Mutation	SNP	ENST00000310123.3	37	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	T	43	10.369967	0.99392	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	.	.	.	5.15	5.15	0.70609	.	0.121906	0.37261	N	0.002173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3581	0.49627	0.0:0.0:0.0:1.0	.	.	.	.	X	35	.	ENSP00000312273:K35X	K	-	1	0	LGI4	40317322	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	5.063000	0.64332	1.948000	0.56530	0.482000	0.46254	AAA	.		0.662	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			A	35625482	T	A	35625482	4	1	62	1	0	0	0	0	0	1	0	0	8783	1763	61	5	1546	5	LGI4	19	35625482	Nonsense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	540251	35625482	23503501	1336	13704											
FFAR2	2867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35941567	35941567	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggacaggggtgtgggTcaaggagaagggatgccaag	19	4	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35941567T>C	ENST00000599180.2	+	2	1031	c.951T>C	c.(949-951)ggT>ggC	p.G317G	FFAR2_ENST00000246549.2_Silent_p.G317G|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	317					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGGGTGTGGGTCAAGGAGAAG	0.587																																					p.G317G	GBM(40;139 809 9833 23358 48736)	.											.	FFAR2-90	0			c.T951C						.						54	58	57					19																	35941567		2203	4300	6503	SO:0001819	synonymous_variant	2867	exon1			TGTGGGTCAAGGA	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.951T>C	19.37:g.35941567T>C		Somatic	86	0		WXS	Illumina GAIIx	Phase_I	123	56	NM_005306	0	0	0	0	0	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																			.		0.587	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		C	35941567	T	C	35941567	2	2	62	1	0	0	0	0	0	0	0	1	5850	1654	58	4		4	FFAR2	19	35941567	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	316085	35941567	23187416	1337	13705											
DMKN	93099	hgsc.bcm.edu	37	chr19	36002386	36002386	+	Missense_Mutation	SNP	C	C	T													tgccaccactgctgccgccaCtgctgccgccactgctgctg					rs56743379|rs117522133		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002386C>T	ENST00000339686.3	-	5	1021	c.845G>A	c.(844-846)aGt>aAt	p.S282N	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S282N|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S282N|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S282N|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S282N|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S282N	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	282	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)			gctgccgccactgctgccgcc	0.632																																					p.S282N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G845A						.						26	20	22					19																	36002386		2190	4261	6451	SO:0001583	missense	93099	exon5			CCGCCACTGCTGC	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.845G>A	19.37:g.36002386C>T	ENSP00000342012:p.Ser282Asn	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	90	21	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007164	0.19199	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	3.03	0.883	0.19177	.	1.984400	0.02204	N	0.062511	T	0.35098	0.0920	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.12766	T	0.61	.	5.3636	0.16101	0.0:0.731:0.0:0.2689	.	282;282;282;282;282	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	282	ENSP00000342012:S282N;ENSP00000394908:S282N;ENSP00000415277:S282N;ENSP00000414743:S282N;ENSP00000388404:S282N;ENSP00000409513:S282N	ENSP00000342012:S282N	S	-	2	0	DMKN	40694226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	0.352000	0.24053	-0.221000	0.12465	AGT	C|0.945;T|0.055		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002386	C	T	36002386	3	4	62	1	0	0	0	0	1	0	0	0	4596	565	20	3	950	3	DMKN	19	36002386	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	60819	36002386	23126597	1338	13706	132	2									
DMKN	93099	hgsc.bcm.edu	37	chr19	36002389	36002389	+	Missense_Mutation	SNP	C	C	T													caccactgctgccgccactgCtgccgccactgctgctgcca					rs56743379|rs142519211		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002389C>T	ENST00000339686.3	-	5	1018	c.842G>A	c.(841-843)aGc>aAc	p.S281N	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S281N|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S281N|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S281N|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S281N|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S281N	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	281	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)			gccgccactgctgccgccact	0.632																																					p.S281N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G842A						.						26	20	22					19																	36002389		2188	4250	6438	SO:0001583	missense	93099	exon5			CCACTGCTGCCGC	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.842G>A	19.37:g.36002389C>T	ENSP00000342012:p.Ser281Asn	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	90	18	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151610	0.06585	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	3.03	1.94	0.25998	.	0.972189	0.08437	N	0.945978	T	0.22742	0.0549	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.20550	0.046;0.046;0.046;0.046;0.017	B;B;B;B;B	0.12837	0.008;0.008;0.008;0.008;0.005	T	0.22173	-1.0224	10	0.23302	T	0.38	.	6.4474	0.21883	0.0:0.86:0.0:0.14	.	281;281;281;281;281	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	281	ENSP00000342012:S281N;ENSP00000394908:S281N;ENSP00000415277:S281N;ENSP00000414743:S281N;ENSP00000388404:S281N;ENSP00000409513:S281N	ENSP00000342012:S281N	S	-	2	0	DMKN	40694229	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.000000	0.12993	0.834000	0.34852	0.561000	0.74099	AGC	C|0.957;T|0.043		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002389	C	T	36002389	3	4	62	1	0	0	0	0	1	0	0	0	4596	797	28	3	953	3	DMKN	19	36002389	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3	36002389	23126594	1339	13707	132	2									
DMKN	93099	broad.mit.edu	37	chr19	36002401	36002401	+	Frame_Shift_Del	DEL	C	C	-													cgccactgctgccgccactgCtgctgccactgctgctgcca					rs56743379|rs140071083|rs201369392		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002401delC	ENST00000339686.3	-	5	1006	c.830delG	c.(829-831)agcfs	p.S278fs	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000424570.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000451297.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Frame_Shift_Del_p.S278fs	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	278	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)			gccgccactgctgctgccact	0.642																																					p.S277fs		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.830delG						.						27	21	23					19																	36002401		2175	4254	6429	SO:0001589	frameshift_variant	93099	exon5			CCACTGCTGCTGC	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.830delG	19.37:g.36002401delC	ENSP00000342012:p.Ser278fs	Somatic	85	0		WXS	Illumina GAIIx	Phase_I	81	8	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Frame_Shift_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.642	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		-	36002401	C	-	36002401	7	5	62	1	0	1	0	1	0	0	0	0	4596	797	28	0	965	0	DMKN	19	36002401	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	12	36002401	23126582	1340	13708											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	36210835	36210837	+	In_Frame_Del	DEL	CTT	CTT	-													tggtgcaggcactgactgaaCttctccggcgggcccaggca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36210835_36210837delCTT	ENST00000222270.7	+	3	586_588	c.586_588delCTT	c.(586-588)cttdel	p.L197del	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_In_Frame_Del_p.L197del|KMT2B_ENST00000420124.1_In_Frame_Del_p.L197del	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	197					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)										ACTGACTGAACTTCTCCGGCGGG	0.704																																					p.196_196del		.											.	MLL4-697	0			c.586_588del						.																																			SO:0001651	inframe_deletion	8085	exon3			ACTGAACTTCTCC	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.586_588delCTT	19.37:g.36210835_36210837delCTT	ENSP00000222270:p.Leu197del	Somatic	63	0		WXS	Illumina GAIIx	Phase_I	114	35	NM_014727	0	0	0	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	In_Frame_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.704	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		-	36210837	CTT	-	36210835	7	5	62	1	0	1	0	1	0	0	0	0	9661	565	20	0	596	0	MLL4	19	36210835	In_Frame_Del	DEL	CTT	TCGA-PK-A5HB-01A-11D-A29I-10	208434	36210835	22918148	1341	13709											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	36223774	36223774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcccggcctcctgaggaCctgccatcggaaattgtgga	14	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36223774C>A	ENST00000222270.7	+	28	6324	c.6324C>A	c.(6322-6324)gaC>gaA	p.D2108E	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D2108E	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2108					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)										CTCCTGAGGACCTGCCATCGG	0.677																																					p.D2108E		.											.	MLL4-697	0			c.C6324A						.						12	15	14					19																	36223774		1893	4114	6007	SO:0001583	missense	8085	exon28			TGAGGACCTGCCA	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.6324C>A	19.37:g.36223774C>A	ENSP00000222270:p.Asp2108Glu	Somatic	74	0		WXS	Illumina GAIIx	Phase_I	97	38	NM_014727	0	0	19	39	20	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853452	0.32791	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82711	-1.64;-1.64	4.35	2.16	0.27623	.	0.000000	0.47455	D	0.000227	T	0.78966	0.4367	L	0.40543	1.245	0.30826	N	0.737265	P	0.49961	0.93	P	0.48627	0.584	T	0.77680	-0.2497	10	0.56958	D	0.05	.	9.7373	0.40395	0.0:0.8228:0.0:0.1772	.	2108	Q9UMN6	MLL4_HUMAN	E	2108	ENSP00000222270:D2108E;ENSP00000398837:D2108E	ENSP00000222270:D2108E	D	+	3	2	AD000671.1	40915614	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.951000	0.40333	0.567000	0.29293	0.455000	0.32223	GAC	.		0.677	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		A	36223774	C	A	36223774	3	1	62	1	0	0	0	0	1	0	0	0	9661	506	18	3	6434	3	MLL4	19	36223774	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	12939	36223774	22905209	1342	13710											
WDR62	284403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36574056	36574056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcgagaatgggacacCcatggacgtgaaagccgggg	19	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36574056C>G	ENST00000270301.7	+	11	1463	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	WDR62_ENST00000401500.2_Missense_Mutation_p.P488R			O43379	WDR62_HUMAN	WD repeat domain 62	488					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AATGGGACACCCATGGACGTG	0.597																																					p.P488R		.											.	WDR62-90	0			c.C1463G						.						56	50	52					19																	36574056		2203	4300	6503	SO:0001583	missense	284403	exon11			GGACACCCATGGA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1463C>G	19.37:g.36574056C>G	ENSP00000270301:p.Pro488Arg	Somatic	120	0		WXS	Illumina GAIIx	Phase_I	148	77	NM_173636	0	0	7	24	17	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761119	0.15914	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.62639	1.11;0.01	5.71	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.335653	0.28252	N	0.016039	T	0.55816	0.1944	N	0.24115	0.695	0.39466	D	0.967649	D;P	0.55605	0.972;0.952	P;B	0.51615	0.675;0.372	T	0.50651	-0.8803	10	0.20519	T	0.43	-17.9996	13.9	0.63797	0.0:0.8464:0.1535:0.0	.	488;488	O43379-4;O43379	.;WDR62_HUMAN	R	488	ENSP00000384792:P488R;ENSP00000270301:P488R	ENSP00000270301:P488R	P	+	2	0	WDR62	41265896	0.011000	0.17503	0.567000	0.28434	0.307000	0.27823	1.233000	0.32648	2.709000	0.92574	0.655000	0.94253	CCC	.		0.597	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		G	36574056	C	G	36574056	3	3	62	1	0	0	0	0	1	0	0	0	17362	623	22	3	1505	3	WDR62	19	36574056	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	350282	36574056	22554927	1343	13711											
COX7A1	1346	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	36643303	36643303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcctcacccgaagggCctgcattctgccttgtcctc	12	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36643303C>T	ENST00000292907.3	-	1	468	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	COX7A1_ENST00000437291.2_5'Flank	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	3					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCGAAGGGCCTGCATTCTG	0.672																																					p.A3T		.											.	COX7A1-226	0			c.G7A						.						27	23	24					19																	36643303		2186	4282	6468	SO:0001583	missense	1346	exon1			GAAGGGCCTGCAT	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.7G>A	19.37:g.36643303C>T	ENSP00000292907:p.Ala3Thr	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	107	47	NM_001864	0	0	0	0	0		Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.729848	0.30684	.	.	ENSG00000161281	ENST00000292907	T	0.47528	0.84	4.06	4.06	0.47325	.	0.468855	0.20559	N	0.089952	T	0.31009	0.0783	.	.	.	0.32752	N	0.506306	P	0.37781	0.608	B	0.29942	0.109	T	0.44375	-0.9332	9	0.33141	T	0.24	.	12.0192	0.53333	0.0:1.0:0.0:0.0	.	3	P24310	CX7A1_HUMAN	T	3	ENSP00000292907:A3T	ENSP00000292907:A3T	A	-	1	0	COX7A1	41335143	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	2.875000	0.48491	2.555000	0.86185	0.443000	0.29094	GCC	.		0.672	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		T	36643303	C	T	36643303	3	4	62	1	0	0	0	0	1	0	0	0	3786	739	26	3	248	3	COX7A1	19	36643303	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	69247	36643303	22485680	1344	13712											
ZNF567	163081	broad.mit.edu;bcgsc.ca	37	chr19	37210811	37210811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaaaccctacatttgTaaagaatgtgggaagtcctt	11	6	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:37210811T>C	ENST00000536254.2	+	6	1407	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	ZNF567_ENST00000588311.1_Silent_p.C364C|ZNF567_ENST00000585696.1_Silent_p.C364C|ZNF567_ENST00000360729.4_Silent_p.C364C|ZNF567_ENST00000392163.2_Silent_p.C364C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTACATTTGTAAAGAATGTG	0.413																																					p.C364C		.											.	ZNF567-90	0			c.T1092C						.						58	63	61					19																	37210811		2203	4300	6503	SO:0001819	synonymous_variant	163081	exon4			CATTTGTAAAGAA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1185T>C	19.37:g.37210811T>C		Somatic	52	2		WXS	Illumina GAIIx	Phase_I	59	34	NM_152603	0	0	0	3	3	B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37																																																																																				.		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		C	37210811	T	C	37210811	2	2	62	1	0	0	0	0	0	0	0	1	18046	1644	57	4		4	ZNF567	19	37210811	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	567508	37210811	21918172	1345	13713											
ZNF793	390927	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38023351	38023351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgtaccgggatgtgAtgctggaaacctatagcaac	13	10	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38023351A>G	ENST00000587143.1	+	4	344	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	ZNF793_ENST00000542455.1_Missense_Mutation_p.M37V|ZNF793_ENST00000589319.1_Missense_Mutation_p.M37V|ZNF793_ENST00000445217.1_Missense_Mutation_p.M37V|ZNF793_ENST00000588578.1_Missense_Mutation_p.M37V|ZNF793_ENST00000587986.1_Missense_Mutation_p.M37V			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	37	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGGATGTGATGCTGGAAAC	0.498																																					p.M37V	Melanoma(44;400 1431 1499 19093)	.											.	ZNF793-68	0			c.A109G						.						70	74	73					19																	38023351		2194	4300	6494	SO:0001583	missense	390927	exon6			GATGTGATGCTGG	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.109A>G	19.37:g.38023351A>G	ENSP00000468605:p.Met37Val	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	175	60	NM_001013659	0	0	7	10	3	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500682	0.64298	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.03065	4.06;4.06	3.53	3.53	0.40419	Krueppel-associated box (4);	.	.	.	.	T	0.18045	0.0433	M	0.87381	2.88	0.23903	N	0.99651	D;D	0.53885	0.963;0.963	D;D	0.67231	0.95;0.95	T	0.02450	-1.1157	9	0.72032	D	0.01	.	8.6253	0.33886	1.0:0.0:0.0:0.0	.	37;37	Q6ZN11;E9PGN4	ZN793_HUMAN;.	V	37;37;37;36	ENSP00000444355:M37V;ENSP00000396402:M37V	ENSP00000318811:M36V	M	+	1	0	ZNF793	42715191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.401000	0.66326	1.590000	0.49995	0.460000	0.39030	ATG	.		0.498	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		G	38023351	A	G	38023351	3	3	62	1	0	0	0	0	1	0	0	0	18213	333	12	4	115	4	ZNF793	19	38023351	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	812540	38023351	21105632	1346	13714											
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38590772	38590772	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggtgacggagcaactgctGaagctcgatgagcaaggggt	16	7	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38590772G>A	ENST00000222345.6	+	5	2345	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	612	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)			AGCAACTGCTGAAGCTCGATG	0.602																																					p.L612L		.											.	SIPA1L3-91	0			c.G1836A						.						44	41	42					19																	38590772		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon5			ACTGCTGAAGCTC	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.1836G>A	19.37:g.38590772G>A		Somatic	83	0		WXS	Illumina GAIIx	Phase_I	81	35	NM_015073	0	0	1	6	5	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.602	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38590772	G	A	38590772	2	1	62	1	0	0	0	0	0	0	0	1	14376	1277	45	3		3	SIPA1L3	19	38590772	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	567421	38590772	20538211	1347	13715											
GGN	199720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38875168	38875168	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttggtggatgtgctcaGcctagtgggggagggtagag	21	4	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38875168G>A	ENST00000334928.6	-	4	1975	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	615	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGTGCTCAGCCTAGTGGGG	0.607											OREG0025448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L615L		.											.	GGN-90	0			c.C1843T						.						69	61	64					19																	38875168		2203	4300	6503	SO:0001630	splice_region_variant	199720	exon4			TGCTCAGCCTAGT	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1842-1C>T	19.37:g.38875168G>A		Somatic	69	0	881	WXS	Illumina GAIIx	Phase_I	84	41	NM_152657	0	0	0	0	0	Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	CCDS12516.1																																																																																			.		0.607	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	Silent	A	38875168	G	A	38875168	5	1	62	1	0	0	0	0	0	0	1	0	6384	985	34	3	119	3	GGN	19	38875168	Splice_Site	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	284396	38875168	20253815	1348	13716											
RYR1	6261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39070652	39070652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgggctggtatatggtgAtgtccctcttgggacactac	12	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39070652A>C	ENST00000359596.3	+	100	14395	c.14395A>C	c.(14395-14397)Atg>Ctg	p.M4799L	RYR1_ENST00000355481.4_Missense_Mutation_p.M4794L|RYR1_ENST00000360985.3_Missense_Mutation_p.M4794L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4799					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)	GTATATGGTGATGTCCCTCTT	0.597																																					p.M4799L		.											.	RYR1-100	0			c.A14395C						.						202	143	163					19																	39070652		2203	4300	6503	SO:0001583	missense	6261	exon100			ATGGTGATGTCCC	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.14395A>C	19.37:g.39070652A>C	ENSP00000352608:p.Met4799Leu	Somatic	110	1		WXS	Illumina GAIIx	Phase_I	135	46	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843956	0.51164	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96265	-3.96;-3.96;-3.95	4.84	4.84	0.62591	.	0.056655	0.64402	U	0.000004	D	0.92831	0.7720	L	0.28608	0.87	0.44843	D	0.997853	B;B	0.25850	0.112;0.136	B;B	0.28385	0.053;0.089	D	0.90763	0.4666	10	0.37606	T	0.19	.	14.2367	0.65932	1.0:0.0:0.0:0.0	.	4794;4799	P21817-2;P21817	.;RYR1_HUMAN	L	4799;4794;4794	ENSP00000352608:M4799L;ENSP00000347667:M4794L;ENSP00000354254:M4794L	ENSP00000347667:M4794L	M	+	1	0	RYR1	43762492	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.097000	0.94193	2.033000	0.60031	0.459000	0.35465	ATG	.		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	39070652	A	C	39070652	3	2	62	1	0	0	0	0	1	0	0	0	13813	333	12	5	14793	5	RYR1	19	39070652	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	195484	39070652	20058331	1349	13717											
LGALS7	3963	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	39262626	39262626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttgaaatgcagcgcgGcatcggagccctgctcctcc	15	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39262626G>A	ENST00000378626.4	-	3	139	c.140C>T	c.(139-141)gCc>gTc	p.A47V	CAPN12_ENST00000601953.1_5'Flank	NM_002307.3	NP_002298.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7	47	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			large_intestine(1)	1	all_cancers(60;1.96e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ATGCAGCGCGGCATCGGAGCC	0.642																																					p.A47V	Colon(82;1915 3815)	.											.	LGALS7-158	0			c.C140T						.						14	16	15					19																	39262626		1271	2984	4255	SO:0001583	missense	3963	exon3			AGCGCGGCATCGG	L07769	CCDS33012.1	19q13.13	2011-08-04	2008-07-25		ENSG00000205076	ENSG00000205076		"Lectins, galactoside-binding"	6568	protein-coding gene	gene with protein product	"galectin 7"	600615				7534301, 7729568	Standard	NM_002307		Approved	GAL7, PIG1, TP53I1, LGALS7A	uc002oje.3	P47929		ENST00000378626.4:c.140C>T	19.37:g.39262626G>A	ENSP00000367891:p.Ala47Val	Somatic	250	1		WXS	Illumina GAIIx	Phase_I	440	216	NM_002307	0	0	0	1	1	Q6IB87	Missense_Mutation	SNP	ENST00000378626.4	37	CCDS33012.1	.	.	.	.	.	.	.	.	.	.	g	2.835	-0.241837	0.05906	.	.	ENSG00000205076	ENST00000378626	T	0.14391	2.51	4.09	0.582	0.17412	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.026800	0.07731	N	0.945314	T	0.03263	0.0095	N	0.01250	-0.93	0.25994	N	0.982201	B	0.28055	0.199	B	0.15484	0.013	T	0.39522	-0.9610	10	0.09084	T	0.74	-17.4985	3.7512	0.08568	0.2879:0.0:0.5421:0.1701	.	47	P47929	LEG7_HUMAN	V	47	ENSP00000367891:A47V	ENSP00000367891:A47V	A	-	2	0	LGALS7	43954466	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.865000	0.27940	0.014000	0.14944	-0.642000	0.03964	GCC	.		0.642	LGALS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462636.1	NM_002307		A	39262626	G	A	39262626	3	1	62	1	0	0	0	0	1	0	0	0	8774	1203	42	3	278	3	LGALS7	19	39262626	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	191974	39262626	19866357	1350	13718											
LGALS7	3963	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	39262667	39262667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgcacagcaggtttacatgGaacctggaagaggaggatgg	15	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39262667G>T	ENST00000378626.4	-	3	98	c.99C>A	c.(97-99)ttC>ttA	p.F33L	CAPN12_ENST00000601953.1_5'Flank	NM_002307.3	NP_002298.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7	33	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			large_intestine(1)	1	all_cancers(60;1.96e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGTTTACATGGAACCTGGAAG	0.557																																					p.F33L	Colon(82;1915 3815)	.											.	LGALS7-158	0			c.C99A						.						8	8	8					19																	39262667		1146	2680	3826	SO:0001583	missense	3963	exon3			TACATGGAACCTG	L07769	CCDS33012.1	19q13.13	2011-08-04	2008-07-25		ENSG00000205076	ENSG00000205076		"Lectins, galactoside-binding"	6568	protein-coding gene	gene with protein product	"galectin 7"	600615				7534301, 7729568	Standard	NM_002307		Approved	GAL7, PIG1, TP53I1, LGALS7A	uc002oje.3	P47929		ENST00000378626.4:c.99C>A	19.37:g.39262667G>T	ENSP00000367891:p.Phe33Leu	Somatic	200	1		WXS	Illumina GAIIx	Phase_I	303	184	NM_002307	0	0	0	0	0	Q6IB87	Missense_Mutation	SNP	ENST00000378626.4	37	CCDS33012.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.302990	0.60195	.	.	ENSG00000205076	ENST00000378626	T	0.10860	2.83	4.09	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000010	T	0.26376	0.0644	M	0.81112	2.525	0.49051	D	0.999743	D	0.63046	0.992	P	0.58266	0.836	T	0.01613	-1.1312	10	0.54805	T	0.06	-33.1276	9.2208	0.37375	0.1057:0.0:0.8943:0.0	.	33	P47929	LEG7_HUMAN	L	33	ENSP00000367891:F33L	ENSP00000367891:F33L	F	-	3	2	LGALS7	43954507	1.000000	0.71417	0.948000	0.38648	0.248000	0.25809	1.227000	0.32576	0.844000	0.35094	0.313000	0.20887	TTC	.		0.557	LGALS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462636.1	NM_002307		T	39262667	G	T	39262667	3	4	62	1	0	0	0	0	1	0	0	0	8774	1165	41	3	319	3	LGALS7	19	39262667	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	41	39262667	19866316	1351	13719											
FBXO17	115290	hgsc.bcm.edu	37	chr19	39440918	39440918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtccagggccagggaTgggtccgccggcagccgtcg	18	14	0	0	rs2304117	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	CTC-360G5.8_ENST00000599996.1_5'Flank|SARS2_ENST00000448145.2_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3	4	3		42,69	0.5	0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		Somatic	2	0		WXS	Illumina GAIIx	Phase_I	25	5	NM_148169	0	0	1	1	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		C	39440918	T	C	39440918	2	2	62	1	0	0	0	0	0	0	0	1	5752	1451	51	4		4	FBXO17	19	39440918	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	178251	39440918	19688065	1352	13720											
PAPL	390928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39591616	39591616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagaaccgggcagcccggCcgtggatcatcactatgggg	14	11	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39591616C>T	ENST00000331256.5	+	8	1109	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	PAPL_ENST00000594229.1_Silent_p.G237G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		279						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GGCAGCCCGGCCGTGGATCAT	0.632																																					p.P279S		.											.	.	0			c.C835T						.						66	71	70					19																	39591616		2203	4300	6503	SO:0001583	missense	0	exon8			GCCCGGCCGTGGA																												ENST00000331256.5:c.835C>T	19.37:g.39591616C>T	ENSP00000327557:p.Pro279Ser	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	66	24	NM_001004318	0	0	0	0	0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142870	0.94560	.	.	ENSG00000183760	ENST00000331256	D	0.85088	-1.94	5.81	5.81	0.92471	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95661	0.8715	10	0.87932	D	0	-35.654	17.5777	0.87956	0.0:1.0:0.0:0.0	.	279	Q6ZNF0	PAPL_HUMAN	S	279	ENSP00000327557:P279S	ENSP00000327557:P279S	P	+	1	0	AC011443.1	44283456	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	6.956000	0.76013	2.741000	0.93983	0.655000	0.94253	CCG	.		0.632	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39591616	C	T	39591616	3	4	62	1	0	0	0	0	1	0	0	0	11466	739	26	3	861	3	PAPL	19	39591616	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	150698	39591616	19537367	1353	13721											
LRFN1	57622	hgsc.bcm.edu	37	chr19	39805934	39805934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagggcagggcagcggGcggcggcgagaggagggccg	23	9	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39805934G>A	ENST00000248668.4	-	1	42	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	15						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGGCAGCGGGCGGCGGCGAG	0.711																																					p.P15S		.											.	LRFN1-70	0			c.C43T						.						4	5	5					19																	39805934		1946	4000	5946	SO:0001583	missense	57622	exon1			CAGCGGGCGGCGG	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.43C>T	19.37:g.39805934G>A	ENSP00000248668:p.Pro15Ser	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	43	16	NM_020862	0	0	1	1	0	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	6.516	0.463498	0.12402	.	.	ENSG00000128011	ENST00000248668	T	0.61510	0.1	4.26	1.9	0.25705	.	.	.	.	.	T	0.28499	0.0705	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21690	-1.0238	9	0.09843	T	0.71	.	3.6604	0.08237	0.1355:0.0:0.6177:0.2468	.	15	Q9P244	LRFN1_HUMAN	S	15	ENSP00000248668:P15S	ENSP00000248668:P15S	P	-	1	0	LRFN1	44497774	0.899000	0.30636	0.228000	0.23943	0.290000	0.27261	1.516000	0.35856	0.944000	0.37579	0.650000	0.86243	CCC	.		0.711	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		A	39805934	G	A	39805934	3	1	62	1	0	0	0	0	1	0	0	0	8972	1203	42	3	2280	3	LRFN1	19	39805934	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	214318	39805934	19323049	1354	13722											
AXL	558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41758838	41758838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggagacctacacagctTcctcctctattcccggctcg	7	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:41758838T>C	ENST00000301178.4	+	16	2082	c.1892T>C	c.(1891-1893)tTc>tCc	p.F631S	AXL_ENST00000359092.3_Missense_Mutation_p.F622S|AXL_ENST00000593513.1_Missense_Mutation_p.F363S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTACACAGCTTCCTCCTCTAT	0.517																																					p.F631S		.											.	AXL-1403	0			c.T1892C						.						82	85	84					19																	41758838		2203	4300	6503	SO:0001583	missense	558	exon16			ACAGCTTCCTCCT	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1892T>C	19.37:g.41758838T>C	ENSP00000301178:p.Phe631Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	63	26	NM_021913	0	0	7	9	2	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038470	0.75617	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.84873	-1.91;-1.91	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.066436	0.64402	D	0.000008	D	0.93331	0.7874	H	0.95539	3.685	0.48830	D	0.999716	D;P	0.55800	0.973;0.955	P;P	0.58077	0.742;0.832	D	0.95057	0.8192	10	0.87932	D	0	-18.3289	13.8149	0.63285	0.0:0.0:0.0:1.0	.	622;631	P30530-2;P30530	.;UFO_HUMAN	S	631;622	ENSP00000301178:F631S;ENSP00000351995:F622S	ENSP00000301178:F631S	F	+	2	0	AXL	46450678	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.823000	0.55715	2.108000	0.64289	0.533000	0.62120	TTC	.		0.517	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			C	41758838	T	C	41758838	3	2	62	1	0	0	0	0	1	0	0	0	1239	1783	62	4	1954	4	AXL	19	41758838	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1952904	41758838	17370145	1355	13723											
CEACAM5	1048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42224956	42224956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagtattcttggcgtaTcaatgggataccgcagcaac	10	12	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42224956T>C	ENST00000221992.6	+	8	2000	c.1886T>C	c.(1885-1887)aTc>aCc	p.I629T	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I629T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I628T	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	629	Ig-like 7.				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)		TCTTGGCGTATCAATGGGATA	0.507																																					p.I629T		.											.	CEACAM5-92	0			c.T1886C						.						194	163	174					19																	42224956		2203	4300	6503	SO:0001583	missense	1048	exon8			GGCGTATCAATGG	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.1886T>C	19.37:g.42224956T>C	ENSP00000221992:p.Ile629Thr	Somatic	279	0		WXS	Illumina GAIIx	Phase_I	317	153	NM_004363	0	0	0	0	0	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	8.026	0.760588	0.15914	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.11821	2.74;2.74	2.17	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16300	0.0392	M	0.68593	2.085	0.09310	N	1	B;B	0.32604	0.377;0.044	B;B	0.38056	0.264;0.111	T	0.29731	-1.0002	9	0.87932	D	0	.	3.8439	0.08926	0.0:0.1913:0.0:0.8087	.	629;629	P06731;Q53G30	CEAM5_HUMAN;.	T	629;629;347	ENSP00000221992:I629T;ENSP00000385072:I629T	ENSP00000221992:I629T	I	+	2	0	CEACAM5	46916796	0.200000	0.23398	0.007000	0.13788	0.021000	0.10359	0.818000	0.27295	0.271000	0.22005	0.383000	0.25322	ATC	.		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		C	42224956	T	C	42224956	3	2	62	1	0	0	0	0	1	0	0	0	3202	1435	50	4	1916	4	CEACAM5	19	42224956	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	466118	42224956	16904027	1356	13724											
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-													gtgtgcctgcgagccgggctGggggggtcctgactgtggcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCCGGGCTGGGGGGGTCCT	0.701																																					p.W164fs		.											.	MEGF8-23	0			c.491delG						.						20	23	22					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	1954	exon3			CGGGCTGGGGGGG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	131	48	NM_001271938	0	0	0	0	0	A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37																																																																																				.		0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		-	42838298	G	-	42838298	7	5	62	1	0	1	0	1	0	0	0	0	9501	1357	47	0	501	0	MEGF8	19	42838298	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	613342	42838298	16290685	1357	13725											
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42861562	42861562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccatccctcaggcccccCagaccgtggagctgccagcc	9	21	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42861562C>A	ENST00000251268.6	+	28	4837	c.4837C>A	c.(4837-4839)Cag>Aag	p.Q1613K	MEGF8_ENST00000334370.4_Missense_Mutation_p.Q1546K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1613					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCAGGCCCCCCAGACCGTGGA	0.652																																					p.Q1613K		.											.	MEGF8-23	0			c.C4837A						.						57	60	59					19																	42861562		2203	4300	6503	SO:0001583	missense	1954	exon28			GCCCCCCAGACCG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4837C>A	19.37:g.42861562C>A	ENSP00000251268:p.Gln1613Lys	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	84	37	NM_001271938	0	0	0	0	0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	7.840	0.721799	0.15372	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19938	2.11;2.11	5.21	5.21	0.72293	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.721805	0.12558	N	0.458393	T	0.11836	0.0288	N	0.08118	0	0.80722	D	1	B;B	0.22211	0.062;0.066	B;B	0.18561	0.021;0.022	T	0.06427	-1.0827	10	0.06236	T	0.91	-3.1397	17.5358	0.87830	0.0:1.0:0.0:0.0	.	1613;1546	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	K	1546;1613	ENSP00000334219:Q1546K;ENSP00000251268:Q1613K	ENSP00000251268:Q1613K	Q	+	1	0	MEGF8	47553402	1.000000	0.71417	0.891000	0.34965	0.496000	0.33645	6.832000	0.75329	2.453000	0.82957	0.563000	0.77884	CAG	.		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42861562	C	A	42861562	3	1	62	1	0	0	0	0	1	0	0	0	9501	595	21	3	4742	3	MEGF8	19	42861562	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	23264	42861562	16267421	1358	13726											
PSG6	5675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43411912	43411912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaccaaatgtaggtgtaGttccgactcttaggttcaca	9	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:43411912G>T	ENST00000292125.2	-	4	845	c.801C>A	c.(799-801)aaC>aaA	p.N267K	PSG6_ENST00000187910.2_Missense_Mutation_p.N267K|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	267	Ig-like C2-type 2.				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)				TGTAGGTGTAGTTCCGACTCT	0.498																																					p.N267K		.											.	PSG6-92	0			c.C801A						.						310	291	297					19																	43411912		2201	4298	6499	SO:0001583	missense	5675	exon4			GGTGTAGTTCCGA		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.801C>A	19.37:g.43411912G>T	ENSP00000292125:p.Asn267Lys	Somatic	162	0		WXS	Illumina GAIIx	Phase_I	156	52	NM_001031850	0	0	0	0	0	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	11.73	1.725200	0.30593	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12039	2.72;2.72	1.42	0.311	0.15831	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25680	0.0625	M	0.85099	2.735	0.09310	N	1	D;D	0.56287	0.96;0.975	P;P	0.52909	0.699;0.713	T	0.14254	-1.0479	9	0.72032	D	0.01	.	3.255	0.06828	0.2969:0.0:0.7031:0.0	.	267;267	Q00889;Q00889-2	PSG6_HUMAN;.	K	267	ENSP00000187910:N267K;ENSP00000292125:N267K	ENSP00000187910:N267K	N	-	3	2	PSG6	48103752	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.195000	0.09546	0.792000	0.33850	0.134000	0.15878	AAC	.		0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		T	43411912	G	T	43411912	3	4	62	1	0	0	0	0	1	0	0	0	12701	1020	36	3	557	3	PSG6	19	43411912	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	550350	43411912	15717071	1359	13727											
PSG7	5676	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	43439806	43439806	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagatgtggccagtaagattCtggggcaaattgtggacaag	14	6	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:43439806C>A	ENST00000406070.2	-	0	276				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CAGTAAGATTCTGGGGCAAAT	0.463																																					.		.											.	.	0			.						.						147	156	153					19																	43439806		2201	4296	6497			5676	.			AAGATTCTGGGGC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439806C>A		Somatic	180	0		WXS	Illumina GAIIx	Phase_I	200	97	.	0	0	0	0	0	Q15232	RNA	SNP	ENST00000406070.2	37																																																																																				.		0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		A	43439806	C	A	43439806	1	1	62	0	1	0	0	0	0	0	0	0	12702	912	32	3		3	PSG7	19	43439806	RNA	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	27894	43439806	15689177	1360	13728											
IRGQ	126298	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-													ctcctcactgggcaggctcaGggggtgccagcacagcctca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44096194delG	ENST00000602269.1	-	2	2041	c.1856delC	c.(1855-1857)cctfs	p.P619fs	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Frame_Shift_Del_p.P619fs|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	619										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCAGGCTCAGGGGGTGCCAG	0.657																																					p.P619fs		.											.	IRGQ-92	0			c.1856delC						.						79	91	87					19																	44096194		2199	4289	6488	SO:0001589	frameshift_variant	126298	exon3			GGCTCAGGGGGTG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1856delC	19.37:g.44096194delG	ENSP00000472250:p.Pro619fs	Somatic	92	0		WXS	Illumina GAIIx	Phase_I	252	123	NM_001007561	0	0	0	0	0	B2RNP3	Frame_Shift_Del	DEL	ENST00000602269.1	37	CCDS33040.1																																																																																			.		0.657	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		-	44096194	G	-	44096194	7	5	62	1	0	1	0	1	0	0	0	0	7866	1000	35	0	19	0	IRGQ	19	44096194	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	656388	44096194	15032789	1361	13729											
IRGQ	126298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	44097165	44097165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgagggcgtcgtagtgCgttgggtgagaggcggcggc	22	6	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44097165C>T	ENST00000602269.1	-	2	1070	c.885G>A	c.(883-885)acG>acA	p.T295T	IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.T295T|L34079.2_ENST00000594374.1_Silent_p.T8T			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	295	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGTCGTAGTGCGTTGGGTGAG	0.692																																					p.T295T		.											.	IRGQ-92	0			c.G885A						.						37	37	37					19																	44097165		2203	4300	6503	SO:0001819	synonymous_variant	126298	exon3			GTAGTGCGTTGGG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.885G>A	19.37:g.44097165C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	168	61	NM_001007561	0	0	5	13	8	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																			.		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		T	44097165	C	T	44097165	2	4	62	1	0	0	0	0	0	0	0	1	7866	755	27	1		1	IRGQ	19	44097165	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	971	44097165	15031818	1362	13730											
IRGC	56269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	44223111	44223111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagacttcagccgctAtgacttcttcctgctggtct	10	12	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44223111A>G	ENST00000244314.5	+	2	600	c.401A>G	c.(400-402)tAt>tGt	p.Y134C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	134	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TTCAGCCGCTATGACTTCTTC	0.642																																					p.Y134C	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.A401G						.						17	16	16					19																	44223111		2203	4298	6501	SO:0001583	missense	56269	exon2			GCCGCTATGACTT	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.401A>G	19.37:g.44223111A>G	ENSP00000244314:p.Tyr134Cys	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	104	45	NM_019612	0	0	1	1	0	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218582	0.58560	.	.	ENSG00000124449	ENST00000244314	T	0.28454	1.61	5.71	4.7	0.59300	.	0.082538	0.50627	D	0.000108	T	0.33469	0.0864	L	0.44542	1.39	0.43313	D	0.99532	P	0.48407	0.91	P	0.49276	0.605	T	0.05178	-1.0901	10	0.54805	T	0.06	.	9.7922	0.40713	0.9187:0.0:0.0813:0.0	.	134	Q6NXR0	IIGP5_HUMAN	C	134	ENSP00000244314:Y134C	ENSP00000244314:Y134C	Y	+	2	0	IRGC	48914951	1.000000	0.71417	0.084000	0.20598	0.957000	0.61999	4.894000	0.63206	0.998000	0.38996	0.454000	0.30748	TAT	.		0.642	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		G	44223111	A	G	44223111	3	3	62	1	0	0	0	0	1	0	0	0	7865	449	16	4	403	4	IRGC	19	44223111	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	125946	44223111	14905872	1363	13731											
IRGC	56269	broad.mit.edu	37	chr19	44223898	44223898	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgagatggctgaggacgcCcagcgtgtccgcatcaaggc	14	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44223898C>A	ENST00000244314.5	+	2	1387	c.1188C>A	c.(1186-1188)gcC>gcA	p.A396A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	396						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGAGGACGCCCAGCGTGTCC	0.652																																					p.A396A	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C1188A						.						35	31	32					19																	44223898		2203	4300	6503	SO:0001819	synonymous_variant	56269	exon2			GGACGCCCAGCGT	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1188C>A	19.37:g.44223898C>A		Somatic	111	0		WXS	Illumina GAIIx	Phase_I	148	5	NM_019612	0	0	0	0	0	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			.		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		A	44223898	C	A	44223898	2	1	62	1	0	0	0	0	0	0	0	1	7865	610	22	3		3	IRGC	19	44223898	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	787	44223898	14905085	1364	13732											
ZNF155	7711	bcgsc.ca	37	chr19	44501240	44501240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggaaagggattttatAcaaattcacaactgtcttcc	7	7	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44501240A>G	ENST00000270014.2	+	5	1359	c.1231A>G	c.(1231-1233)Aca>Gca	p.T411A	ZNF155_ENST00000590615.1_Missense_Mutation_p.T411A|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.T422A	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	411					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGGATTTTATACAAATTCACA	0.418																																					p.T422A	NSCLC(61;554 1277 20909 42067 42312)	.											.	ZNF155-154	0			c.A1264G						.						83	88	86					19																	44501240		2201	4300	6501	SO:0001583	missense	7711	exon6			TTTTATACAAATT	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1231A>G	19.37:g.44501240A>G	ENSP00000270014:p.Thr411Ala	Somatic	99	2		WXS	Illumina GAIIx	Phase_I	144	66	NM_001260488	0	0	0	0	0	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149104	0.37923	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.22539	1.95;1.95	2.37	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	L	0.51853	1.615	0.09310	N	1	P;P	0.51537	0.946;0.587	P;P	0.54060	0.741;0.489	T	0.16217	-1.0410	9	0.11182	T	0.66	.	0.3639	0.00368	0.3499:0.2658:0.143:0.2412	.	422;411	B4DM95;Q12901	.;ZN155_HUMAN	A	422;411	ENSP00000385163:T422A;ENSP00000270014:T411A	ENSP00000270014:T411A	T	+	1	0	ZNF155	49193080	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-3.767000	0.00371	-0.667000	0.05303	0.379000	0.24179	ACA	.		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		G	44501240	A	G	44501240	3	3	62	1	0	0	0	0	1	0	0	0	17784	391	14	4	1245	4	ZNF155	19	44501240	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	277342	44501240	14627743	1365	13733											
ZNF227	7770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	44739706	44739706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatcagagagtccacActgaagaaaaaccatacaaa	7	10	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44739706A>G	ENST00000313040.7	+	6	1328	c.1123A>G	c.(1123-1125)Act>Gct	p.T375A	ZNF227_ENST00000391961.2_Missense_Mutation_p.T324A|ZNF227_ENST00000589005.1_Missense_Mutation_p.T324A	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGAGTCCACACTGAAGAAAA	0.443																																					p.T375A		.											.	ZNF227-91	0			c.A1123G						.						75	85	82					19																	44739706		2203	4300	6503	SO:0001583	missense	7770	exon6			GTCCACACTGAAG	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1123A>G	19.37:g.44739706A>G	ENSP00000321049:p.Thr375Ala	Somatic	56	0		WXS	Illumina GAIIx	Phase_I	61	5	NM_182490	0	1	4	5	0	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553182	0.65425	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.26518	1.73;1.73	4.54	2.37	0.29283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	L	0.41906	1.305	0.80722	D	1	B;B;B;B	0.29378	0.243;0.243;0.009;0.243	B;B;B;B	0.31016	0.123;0.123;0.021;0.123	T	0.06092	-1.0846	9	0.56958	D	0.05	.	5.4408	0.16507	0.7551:0.0:0.0885:0.1564	.	296;354;327;375	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	A	375;332;324;354;76	ENSP00000321049:T375A;ENSP00000375823:T324A	ENSP00000321049:T375A	T	+	1	0	ZNF227	49431546	0.884000	0.30299	0.965000	0.40720	0.997000	0.91878	2.123000	0.41996	0.666000	0.31087	0.460000	0.39030	ACT	.		0.443	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		G	44739706	A	G	44739706	3	3	62	1	0	0	0	0	1	0	0	0	17829	159	6	4	1137	4	ZNF227	19	44739706	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	238466	44739706	14389277	1366	13734											
APOE	348	hgsc.bcm.edu	37	chr19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggacatggaggacgtgTgcggccgcctggtgcagtac	18	11	0	0	rs429358	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12	12	12	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	94	31	NM_000041	0	0	33	42	9	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		C	45411941	T	C	45411941	3	2	62	1	0	0	0	0	1	0	0	0	802	1696	59	4	398	4	APOE	19	45411941	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	672235	45411941	13717042	1367	13735											
KLC3	147700	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	45851316	45851316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggccgctatgaggtggCggtgcctctgtgccgccagg	18	12	1	1	rs369849969		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45851316C>T	ENST00000391946.2	+	5	779	c.677C>T	c.(676-678)gCg>gTg	p.A226V	KLC3_ENST00000470402.1_Missense_Mutation_p.A240V|KLC3_ENST00000585434.1_Missense_Mutation_p.A225V	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	226					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TATGAGGTGGCGGTGCCTCTG	0.667																																					p.A226V		.											.	KLC3-91	0			c.C677T						.	C	VAL/ALA	0,4388		0,0,2194	17	19	19		677	2.2	0.3	19		19	1,8597		0,1,4298	no	missense	KLC3	NM_177417.2	64	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	226/505	45851316	1,12985	2194	4299	6493	SO:0001583	missense	147700	exon5			AGGTGGCGGTGCC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.677C>T	19.37:g.45851316C>T	ENSP00000375810:p.Ala226Val	Somatic	172	1		WXS	Illumina GAIIx	Phase_I	323	157	NM_177417	0	0	2	2	0	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000902	0.74818	0.0	1.16E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.89415	-2.51;-2.51	3.24	2.2	0.27929	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	D	0.86058	0.5842	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.76494	0.976;0.999;0.981	B;B;B	0.42282	0.185;0.382;0.282	D	0.85365	0.1110	10	0.87932	D	0	-28.5578	8.6564	0.34066	0.0:0.881:0.0:0.119	.	225;240;226	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	V	226;240	ENSP00000375810:A226V;ENSP00000436019:A240V	ENSP00000375810:A226V	A	+	2	0	KLC3	50543156	1.000000	0.71417	0.347000	0.25668	0.792000	0.44763	7.437000	0.80417	0.948000	0.37687	0.407000	0.27541	GCG	.		0.667	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		T	45851316	C	T	45851316	3	4	62	1	0	0	0	0	1	0	0	0	8362	768	27	1	691	1	KLC3	19	45851316	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	439375	45851316	13277667	1368	13736											
ERCC1	2067	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	45924593	45924593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtaggtctgaggggccGcctgggccgaggtgtccaca	18	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45924593G>A	ENST00000300853.3	-	3	755	c.164C>T	c.(163-165)gCg>gTg	p.A55V	ERCC1_ENST00000589165.1_Missense_Mutation_p.A55V|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.A55V|ERCC1_ENST00000591636.1_Missense_Mutation_p.A55V|ERCC1_ENST00000340192.7_Missense_Mutation_p.A55V	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	55					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGAGGGGCCGCCTGGGCCGA	0.642								Nucleotide excision repair (NER)																													p.A55V		.											.	ERCC1-659	0			c.C164T						.						74	72	73					19																	45924593		2203	4300	6503	SO:0001583	missense	2067	exon3			GGGGCCGCCTGGG		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.164C>T	19.37:g.45924593G>A	ENSP00000300853:p.Ala55Val	Somatic	93	1		WXS	Illumina GAIIx	Phase_I	89	36	NM_001983	0	0	88	192	104	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921855	0.33908	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.46451	0.89;0.88;0.87	4.78	-7.67	0.01272	.	2.403810	0.02097	N	0.053586	T	0.19248	0.0462	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.10382	-1.0632	10	0.39692	T	0.17	7.706	2.0457	0.03560	0.1535:0.3216:0.3043:0.2206	.	55;55;55	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	V	55	ENSP00000300853:A55V;ENSP00000345203:A55V;ENSP00000013807:A55V	ENSP00000013807:A55V	A	-	2	0	ERCC1	50616433	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.876000	0.01633	-0.782000	0.04541	-0.339000	0.08088	GCG	.		0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		A	45924593	G	A	45924593	3	1	62	1	0	0	0	0	1	0	0	0	5228	1087	38	1	890	1	ERCC1	19	45924593	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	73277	45924593	13204390	1369	13737											
VASP	7408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	46024603	46024603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccccctccacccccaGcacttcccacctggtcggtc	9	21	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:46024603G>A	ENST00000245932.6	+	4	723	c.367G>A	c.(367-369)Gca>Aca	p.A123T	VASP_ENST00000586619.1_Intron	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	123	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TCCACCCCCAGCACTTCCCAC	0.657																																					p.A123T		.											.	VASP-514	0			c.G367A						.						44	34	37					19																	46024603		2193	4288	6481	SO:0001583	missense	7408	exon4			CCCCCAGCACTTC		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.367G>A	19.37:g.46024603G>A	ENSP00000245932:p.Ala123Thr	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	60	32	NM_003370	0	0	34	53	19	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.847037	0.32606	.	.	ENSG00000125753	ENST00000245932	T	0.71698	-0.59	3.74	2.7	0.31948	.	0.602245	0.14515	N	0.314824	T	0.50257	0.1605	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26985	-1.0087	10	0.13108	T	0.6	-4.9463	7.2139	0.25949	0.121:0.0:0.879:0.0	.	123	P50552	VASP_HUMAN	T	123	ENSP00000245932:A123T	ENSP00000245932:A123T	A	+	1	0	VASP	50716443	0.081000	0.21417	0.009000	0.14445	0.085000	0.17905	1.709000	0.37909	1.149000	0.42402	0.655000	0.94253	GCA	.		0.657	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			A	46024603	G	A	46024603	3	1	62	1	0	0	0	0	1	0	0	0	17177	971	34	3	381	3	VASP	19	46024603	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	100010	46024603	13104380	1370	13738											
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47572589	47572589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcagctcttcgtagtGcccgtagtcctctgtggcag	12	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:47572589G>A	ENST00000253048.5	-	14	2195	c.2158C>T	c.(2158-2160)Cac>Tac	p.H720Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	720							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTTCGTAGTGCCCGTAGTCC	0.667																																					p.H720Y		.											.	ZC3H4-74	0			c.C2158T						.						21	27	25					19																	47572589		1969	4140	6109	SO:0001583	missense	23211	exon14			CGTAGTGCCCGTA	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2158C>T	19.37:g.47572589G>A	ENSP00000253048:p.His720Tyr	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	51	18	NM_015168	0	0	0	0	0	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493097	0.12702	.	.	ENSG00000130749	ENST00000253048	T	0.18338	2.22	5.47	5.47	0.80525	.	0.365106	0.24463	N	0.038315	T	0.12944	0.0314	L	0.36672	1.1	0.27488	N	0.952382	P	0.51537	0.946	B	0.40329	0.326	T	0.17410	-1.0370	10	0.30854	T	0.27	.	9.5161	0.39106	0.0:0.1534:0.6881:0.1586	.	720	Q9UPT8	ZC3H4_HUMAN	Y	720	ENSP00000253048:H720Y	ENSP00000253048:H720Y	H	-	1	0	ZC3H4	52264429	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	1.906000	0.39887	2.566000	0.86566	0.585000	0.79938	CAC	.		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47572589	G	A	47572589	3	1	62	1	0	0	0	0	1	0	0	0	17618	1319	46	3	1761	3	ZC3H4	19	47572589	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1547986	47572589	11556394	1371	13739											
DHX34	9704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47876940	47876940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtacgaaatggccaacCttcggcgccagttcaaggtg	12	11	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:47876940C>T	ENST00000328771.4	+	9	2396	c.2047C>T	c.(2047-2049)Ctt>Ttt	p.L683F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	683					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AATGGCCAACCTTCGGCGCCA	0.612																																					p.L683F		.											.	DHX34-231	0			c.C2047T						.						65	52	57					19																	47876940		2203	4300	6503	SO:0001583	missense	9704	exon9			GCCAACCTTCGGC	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2047C>T	19.37:g.47876940C>T	ENSP00000331907:p.Leu683Phe	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	134	44	NM_014681	0	0	4	7	3	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280189	0.80692	.	.	ENSG00000134815	ENST00000328771	T	0.03580	3.88	5.01	3.96	0.45880	.	0.268702	0.25372	N	0.031148	T	0.15003	0.0362	M	0.62088	1.915	0.53688	D	0.999974	D	0.89917	1.0	D	0.74348	0.983	T	0.00420	-1.1750	10	0.87932	D	0	-14.3887	14.356	0.66738	0.0:0.8504:0.1496:0.0	.	683	Q14147	DHX34_HUMAN	F	683	ENSP00000331907:L683F	ENSP00000331907:L683F	L	+	1	0	DHX34	52568740	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.177000	0.50871	1.092000	0.41356	0.561000	0.74099	CTT	.		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47876940	C	T	47876940	3	4	62	1	0	0	0	0	1	0	0	0	4521	681	24	3	2077	3	DHX34	19	47876940	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	304351	47876940	11252043	1372	13740											
CARD8	22900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	48734920	48734921	+	Missense_Mutation	DNP	TA	TA	AT													gcatcttccattcttacctgTatctgtttgtgctcttatca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TA	TA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:48734920_48734921TA>AT	ENST00000359009.4	-	4	535_536	c.223_224TA>AT	c.(223-225)TAc>ATc	p.Y75I	CARD8_ENST00000391898.3_Missense_Mutation_p.Y180I|CARD8_ENST00000520015.1_Missense_Mutation_p.Y180I|CARD8_ENST00000519940.1_Missense_Mutation_p.Y180I|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.Y130I|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.Y130I|CARD8_ENST00000520753.1_Missense_Mutation_p.Y180I|CARD8_ENST00000521613.1_Missense_Mutation_p.Y130I			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTCTTACCTGTATCTGTTTGTG	0.416																																					p.Y180I		.											.	CARD8-227	0			c.T538A						.																																			SO:0001583	missense	22900	exon5			ACCTGTATCTGTT	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.223_224delinsAT	19.37:g.48734920_48734921delinsAT	ENSP00000351901:p.Tyr75Ile	Somatic	52	0		WXS	Illumina GAIIx	Phase_I	64	0	NM_001184900	0	0	0	0	0	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	DNP	ENST00000359009.4	37																																																																																				.		0.416	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		AT	48734921	TA	AT	48734920	3	1	62	1	0	0	0	0	1	0	0	0	2658	1638	57	5	1102	5	CARD8	19	48734920	Missense_Mutation	DNP	TA	TCGA-PK-A5HB-01A-11D-A29I-10	857980	48734920	10394063	1373	13741											
KDELR1	10945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	48894556	48894556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggacttccagattttgagCagtagcaagatgatggcgag	14	7	0	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:48894556C>T	ENST00000330720.2	-	1	254	c.60G>A	c.(58-60)ctG>ctA	p.L20L	KDELR1_ENST00000597017.1_5'Flank	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	20					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AGATTTTGAGCAGTAGCAAGA	0.647											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L20L		.											.	KDELR1-90	0			c.G60A						.						34	33	33					19																	48894556		2187	4274	6461	SO:0001819	synonymous_variant	10945	exon1			TTTGAGCAGTAGC	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.60G>A	19.37:g.48894556C>T		Somatic	63	0	958	WXS	Illumina GAIIx	Phase_I	85	41	NM_006801	0	0	440	816	376	B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	CCDS12718.1																																																																																			.		0.647	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			T	48894556	C	T	48894556	2	4	62	1	0	0	0	0	0	0	0	1	8146	697	25	3		3	KDELR1	19	48894556	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	159636	48894556	10234427	1374	13742											
LMTK3	114783	hgsc.bcm.edu	37	chr19	49002214	49002214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcgaggagtcgtcctcGggggggtgggggcagccaag	21	10	0	0	rs368551469		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49002214G>A	ENST00000600059.1	-	11	2339	c.2112C>T	c.(2110-2112)ccC>ccT	p.P704P	LMTK3_ENST00000270238.3_Silent_p.P733P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	704	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTCGTCCTCGGGGGGGTGGG	0.756													G|||	1	0.000199681	0	0	5008	,	,		6402	0		0	False		,,,				2504	0.001				p.P733P		.											.	LMTK3-1357	0			c.C2199T						.	G		1,1897		0,1,948	1	1	1		2199	-6.2	0.1	19		1	4,4696		0,4,2346	no	coding-synonymous	LMTK3	NM_001080434.1		0,5,3294	AA,AG,GG		0.0851,0.0527,0.0758		733/1490	49002214	5,6593	949	2350	3299	SO:0001819	synonymous_variant	114783	exon12			GTCCTCGGGGGGG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2112C>T	19.37:g.49002214G>A		Somatic	3	0		WXS	Illumina GAIIx	Phase_I	13	7	NM_001080434	0	0	0	1	1	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.756	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		A	49002214	G	A	49002214	2	1	62	1	0	0	0	0	0	0	0	1	8890	1103	39	1		1	LMTK3	19	49002214	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	107658	49002214	10126769	1375	13743											
NTN5	126147	hgsc.bcm.edu	37	chr19	49164952	49164952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtgctccggcctgggActgggtgtgggtgcccgcac	17	12	1	0	rs281392	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9	9	9		1452	2.2	0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	10	6	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		G	49164952	A	G	49164952	2	3	62	1	0	0	0	0	0	0	0	1	10742	272	10	4		4	NTN5	19	49164952	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	162738	49164952	9964031	1376	13744											
FGF21	26291	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	49261316	49261316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccccacaccgggaccctGcaccccgaggaccagctcgc	10	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49261316G>A	ENST00000593756.1	+	4	1041	c.469G>A	c.(469-471)Gca>Aca	p.A157T	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.A157T			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCGGGACCCTGCACCCCGAGG	0.687																																					p.A157T		.											.	FGF21-522	0			c.G469A						.						29	36	34					19																	49261316		2202	4298	6500	SO:0001583	missense	26291	exon3			GACCCTGCACCCC	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.469G>A	19.37:g.49261316G>A	ENSP00000471477:p.Ala157Thr	Somatic	114	0		WXS	Illumina GAIIx	Phase_I	174	62	NM_019113	0	0	0	1	1	Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356689	0.24598	.	.	ENSG00000105550	ENST00000222157	D	0.84442	-1.85	3.91	-2.85	0.05734	.	0.822337	0.10608	N	0.654797	T	0.70988	0.3287	L	0.36672	1.1	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.54997	-0.8209	10	0.33940	T	0.23	-23.0536	0.7356	0.00965	0.1964:0.1483:0.3158:0.3395	.	157	Q9NSA1	FGF21_HUMAN	T	157	ENSP00000222157:A157T	ENSP00000222157:A157T	A	+	1	0	FGF21	53953128	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	0.239000	0.18023	-0.358000	0.08162	-0.535000	0.04281	GCA	.		0.687	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			A	49261316	G	A	49261316	3	1	62	1	0	0	0	0	1	0	0	0	5872	1319	46	3	479	3	FGF21	19	49261316	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	96364	49261316	9867667	1377	13745											
RUVBL2	10856	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49507564	49507564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggtgggtcagctggcgGcacggcgggcggctggcgtg	22	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49507564G>A	ENST00000595090.1	+	4	618	c.154G>A	c.(154-156)Gca>Aca	p.A52T	RUVBL2_ENST00000601968.1_Missense_Mutation_p.A7T|RUVBL2_ENST00000413176.2_Missense_Mutation_p.A7T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	52					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)		TCAGCTGGCGGCACGGCGGGC	0.642																																					p.A52T		.											.	RUVBL2-227	0			c.G154A						.						39	46	44					19																	49507564		1971	4124	6095	SO:0001583	missense	10856	exon4			CTGGCGGCACGGC	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.154G>A	19.37:g.49507564G>A	ENSP00000473172:p.Ala52Thr	Somatic	120	1		WXS	Illumina GAIIx	Phase_I	163	81	NM_006666	1	0	35	71	35	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023114	0.93462	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.64803	0.09;-0.12	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.057166	0.64402	D	0.000001	D	0.85818	0.5785	H	0.97540	4.025	0.54753	D	0.999982	D;P;D	0.89917	1.0;0.933;0.995	D;P;D	0.71414	0.973;0.885;0.92	D	0.90971	0.4820	10	0.87932	D	0	-41.8002	15.594	0.76562	0.0:0.0:1.0:0.0	.	52;52;18	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	T	52;7	ENSP00000221413:A52T;ENSP00000413890:A7T	ENSP00000221413:A52T	A	+	1	0	RUVBL2	54199376	1.000000	0.71417	0.976000	0.42696	0.871000	0.50021	4.019000	0.57181	2.366000	0.80165	0.561000	0.74099	GCA	.		0.642	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			A	49507564	G	A	49507564	3	1	62	1	0	0	0	0	1	0	0	0	13798	1203	42	3	168	3	RUVBL2	19	49507564	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	246248	49507564	9621419	1378	13746											
FCGRT	2217	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-													ctggaagctttcaaagctttGgggggaaaaggtgagattcc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50017380delG	ENST00000221466.5	+	3	801	c.315delG	c.(313-315)ttgfs	p.L105fs	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Frame_Shift_Del_p.L105fs|FCGRT_ENST00000596975.1_Frame_Shift_Del_p.L105fs|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	105	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TCAAAGCTTTGGGGGGAAAAG	0.577																																					p.L105fs		.											.	FCGRT-91	0			c.315delG						.						25	30	28					19																	50017380		2203	4299	6502	SO:0001589	frameshift_variant	2217	exon3			AGCTTTGGGGGGA	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.315delG	19.37:g.50017380delG	ENSP00000221466:p.Leu105fs	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	44	21	NM_001136019	0	0	0	0	0	Q5HYM5|Q9HBV7|Q9NZ19	Frame_Shift_Del	DEL	ENST00000221466.5	37	CCDS12770.1																																																																																			.		0.577	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			-	50017380	G	-	50017380	7	5	62	1	0	1	0	1	0	0	0	0	5808	1339	47	0	321	0	FCGRT	19	50017380	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	509816	50017380	9111603	1379	13747											
PRR12	57479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	50100497	50100497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggcaaggccgggccacctGaggacgagggggaccccaag	17	13	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50100497G>A	ENST00000418929.2	+	4	2917	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCCACCTGAGGACGAGGG	0.697																																					p.E969K		.											.	PRR12-70	0			c.G2905A						.						5	6	6					19																	50100497		1902	4039	5941	SO:0001583	missense	57479	exon4			CCACCTGAGGACG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2905G>A	19.37:g.50100497G>A	ENSP00000394510:p.Glu969Lys	Somatic	20	0		WXS	Illumina GAIIx	Phase_I	59	24	NM_020719	0	0	11	17	6	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469803	0.12461	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.17054	2.3	4.79	4.79	0.61399	.	0.000000	0.44483	D	0.000441	T	0.13756	0.0333	L	0.38175	1.15	0.21915	N	0.999478	B	0.10296	0.003	B	0.09377	0.004	T	0.11348	-1.0591	10	0.72032	D	0.01	-27.9771	8.8873	0.35411	0.1003:0.0:0.8997:0.0	.	969	Q9ULL5-3	.	K	969;149;149	ENSP00000394510:E969K	ENSP00000246798:E149K	E	+	1	0	PRR12	54792309	1.000000	0.71417	0.698000	0.30274	0.141000	0.21300	8.061000	0.89467	2.476000	0.83614	0.491000	0.48974	GAG	.		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50100497	G	A	50100497	3	1	62	1	0	0	0	0	1	0	0	0	12626	1291	45	3	2919	3	PRR12	19	50100497	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	83117	50100497	9028486	1380	13748											
SCAF1	58506	broad.mit.edu	37	chr19	50158041	50158042	+	Frame_Shift_Ins	INS	-	-	C													tctggggggctgcggttcgaINSccccccccacccccaccggg					rs149487378		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50158041_50158042insC	ENST00000360565.3	+	9	3656_3657	c.3532_3533insC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGCGGTTCGACCCCCCCCACC	0.693																																					p.T1178fs		.											.	SCAF1-68	0			c.3532_3533insC						.			36,4184		1,34,2075						4.2	0.8			26	32,8138		0,32,4053	no	frameshift	SCAF1	NM_021228.2		1,66,6128	A1A1,A1R,RR		0.3917,0.8531,0.5488				68,12322				SO:0001589	frameshift_variant	58506	exon9			GGTTCGACCCCCC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3540dupC	19.37:g.50158049_50158049dupC	ENSP00000353769:p.Thr1178fs	Somatic	11	0		WXS	Illumina GAIIx	Phase_I	23	7	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	CCDS33074.1																																																																																			.		0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		C	50158042	-	C	50158041	7	5	62	1	0	1	1	0	0	0	0	0	13913	275	10	0	3562	0	SCAF1	19	50158041	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	57544	50158041	8970942	1381	13749											
TSKS	60385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50245268	50245268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggactccgtagacaactgCgacccctggctgggggaggg	17	11	0	1	rs201242813		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50245268C>T	ENST00000246801.3	-	9	1453	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	TSKS_ENST00000358830.3_Silent_p.S257S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	457					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TAGACAACTGCGACCCCTGGC	0.637																																					p.S457S		.											.	TSKS-154	0			c.G1371A						.						55	49	51					19																	50245268		2203	4300	6503	SO:0001819	synonymous_variant	60385	exon9			CAACTGCGACCCC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1371G>A	19.37:g.50245268C>T		Somatic	75	0		WXS	Illumina GAIIx	Phase_I	75	33	NM_021733	0	0	0	0	0	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																			C|0.999;A|0.000		0.637	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50245268	C	T	50245268	2	4	62	1	0	0	0	0	0	0	0	1	16674	755	27	1		1	TSKS	19	50245268	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	87227	50245268	8883715	1382	13750											
VRK3	51231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50498494	50498494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgcaggtagggatggCcagcagtggggtcgagtaca	16	9	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50498494C>T	ENST00000599538.1	-	8	1382	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	VRK3_ENST00000594092.1_Missense_Mutation_p.A240T|VRK3_ENST00000316763.3_Missense_Mutation_p.A240T|VRK3_ENST00000601912.1_Missense_Mutation_p.A190T|VRK3_ENST00000593919.1_Missense_Mutation_p.A240T|VRK3_ENST00000594948.1_Missense_Mutation_p.A240T|VRK3_ENST00000601341.1_Missense_Mutation_p.A190T|VRK3_ENST00000377011.2_Missense_Mutation_p.A190T|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GTAGGGATGGCCAGCAGTGGG	0.562																																					p.A240T	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	.											.	VRK3-359	0			c.G718A						.						126	94	105					19																	50498494		2203	4300	6503	SO:0001583	missense	51231	exon8			GGATGGCCAGCAG	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.718G>A	19.37:g.50498494C>T	ENSP00000469880:p.Ala240Thr	Somatic	156	0		WXS	Illumina GAIIx	Phase_I	229	96	NM_016440	0	0	23	39	16	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.594628|3.594628	0.66219|0.66219	.|.	.|.	ENSG00000105053|ENSG00000105053	ENST00000316763;ENST00000377011|ENST00000424804	T;T|.	0.19532|.	2.14;2.14|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.051490|.	0.85682|.	D|.	0.000000|.	T|.	0.66607|.	0.2806|.	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.988;0.989;0.993|.	T|.	0.72074|.	-0.4400|.	9|.	0.72032|0.87932	D|D	0.01|0	-29.9162|-29.9162	16.6218|16.6218	0.84932|0.84932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;190;240|.	Q8IV63-2;A6NEG5;Q8IV63|.	.;.;VRK3_HUMAN|.	T|X	240;190|217	ENSP00000324636:A240T;ENSP00000366210:A190T|.	ENSP00000324636:A240T|ENSP00000402958:W217X	A|W	-|-	1|3	0|0	VRK3|VRK3	55190306|55190306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.182000|0.182000	0.23217|0.23217	3.816000|3.816000	0.55658|0.55658	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCC|TGG	.		0.562	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		T	50498494	C	T	50498494	3	4	62	1	0	0	0	0	1	0	0	0	17270	739	26	3	734	3	VRK3	19	50498494	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	253226	50498494	8630489	1383	13751											
POLD1	5424	hgsc.bcm.edu;bcgsc.ca	37	chr19	50918843	50918844	+	Frame_Shift_Del	DEL	GA	GA	-													aggcccacgtggagctggccGagaggtcctgcgcggggcgg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50918843_50918844delGA	ENST00000440232.2	+	21	2766_2767	c.2713_2714delGA	c.(2713-2715)gagfs	p.E905fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.E905fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.E931fs|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	905					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCTGGCCGAGAGGTCCTGC	0.688								DNA polymerases (catalytic subunits)																													p.905_905del		.											.	POLD1-840	0			c.2713_2714del						.																																			SO:0001589	frameshift_variant	5424	exon21			CTGGCCGAGAGGT		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2713_2714delGA	19.37:g.50918845_50918846delGA	ENSP00000406046:p.Glu905fs	Somatic	67	1		WXS	Illumina GAIIx	Phase_I	246	100	NM_002691	0	0	0	0	0	Q8NER3|Q96H98	Frame_Shift_Del	DEL	ENST00000440232.2	37	CCDS12795.1																																																																																			.		0.688	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			-	50918844	GA	-	50918843	7	5	62	1	0	1	0	1	0	0	0	0	12229	1059	37	0	2791	0	POLD1	19	50918843	Frame_Shift_Del	DEL	GA	TCGA-PK-A5HB-01A-11D-A29I-10	420349	50918843	8210140	1384	13752											
ASPDH	554235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	51015773	51015773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggcccagggctgtggGctgcagccaggggtccctca	16	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51015773G>A	ENST00000389208.4	-	5	558	c.497C>T	c.(496-498)gCc>gTc	p.A166V	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A61V|JOSD2_ENST00000598418.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	166					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						AGGGCTGTGGGCTGCAGCCAG	0.667																																					p.A166V		.											.	ASPDH-90	0			c.C497T						.						16	22	20					19																	51015773		2201	4299	6500	SO:0001583	missense	554235	exon5			CTGTGGGCTGCAG		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.497C>T	19.37:g.51015773G>A	ENSP00000373860:p.Ala166Val	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	28	10	NM_001114598	0	0	0	1	1	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254707	0.22965	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.44083	0.93;0.94	3.9	0.0361	0.14190	.	0.564647	0.17212	N	0.182676	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.18023	-1.0350	10	0.27082	T	0.32	-1.0054	7.6994	0.28613	0.3024:0.0:0.6976:0.0	.	166;61	A6ND91;A6ND91-2	ASPD_HUMAN;.	V	61;166	ENSP00000366114:A61V;ENSP00000373860:A166V	ENSP00000366114:A61V	A	-	2	0	ASPDH	55707585	0.000000	0.05858	0.033000	0.17914	0.927000	0.56198	-0.343000	0.07791	0.117000	0.18138	0.561000	0.74099	GCC	.		0.667	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		A	51015773	G	A	51015773	3	1	62	1	0	0	0	0	1	0	0	0	1052	1203	42	3	366	3	ASPDH	19	51015773	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	96930	51015773	8113210	1385	13753											
SHANK1	50944	hgsc.bcm.edu	37	chr19	51171188	51171188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggatccagggccttgccGgtcagcgggtgcaccagggg	19	12	1	0	rs750578	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51171188G>A	ENST00000293441.1	-	22	4047	c.4029C>T	c.(4027-4029)acC>acT	p.T1343T	SHANK1_ENST00000391813.1_Silent_p.T730T|SHANK1_ENST00000359082.3_Silent_p.T1334T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Silent_p.T1351T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1343					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)		GGGCCTTGCCGGTCAGCGGGT	0.786													g|||	1533	0.30611	0.0484	0.5576	5008	,	,		7768	0.3185		0.4364	False		,,,				2504	0.3292				p.T1343T		.											.	SHANK1-153	0			c.C4029T						.			167,1995		14,139,928	2	2	2		4029	1.5	1	19	dbSNP_86	2	1560,3624		219,1122,1251	no	coding-synonymous	SHANK1	NM_016148.2		233,1261,2179	AA,AG,GG		30.0926,7.7243,23.5094		1343/2162	51171188	1727,5619	1081	2592	3673	SO:0001819	synonymous_variant	50944	exon22			CTTGCCGGTCAGC	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.4029C>T	19.37:g.51171188G>A		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	4	4	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			G|0.661;A|0.339		0.786	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51171188	G	A	51171188	2	1	62	1	0	0	0	0	0	0	0	1	14309	1103	39	1		1	SHANK1	19	51171188	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	155415	51171188	7957795	1386	13754											
SIGLEC9	27180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51630290	51630290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctctttttctacagtatCcacagtcttgggaaatggct	8	9	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51630290C>T	ENST00000250360.3	+	4	819	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.S251F	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	251	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		tctACAGTATCCACAGTCTTG	0.498																																					p.S251F		.											.	SIGLEC9-91	0			c.C752T						.						78	79	78					19																	51630290		2203	4300	6503	SO:0001583	missense	27180	exon4			CAGTATCCACAGT	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.752C>T	19.37:g.51630290C>T	ENSP00000250360:p.Ser251Phe	Somatic	62	0		WXS	Illumina GAIIx	Phase_I	63	21	NM_001198558	0	0	0	0	0	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.303821	0.01353	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13901	2.55;2.76	2.38	1.33	0.21861	Immunoglobulin-like (1);	1.186210	0.06573	N	0.748994	T	0.15912	0.0383	M	0.72479	2.2	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.33394	-0.9870	10	0.37606	T	0.19	.	4.3688	0.11237	0.0:0.8008:0.0:0.1992	.	251	Q9Y336	SIGL9_HUMAN	F	251	ENSP00000413861:S251F;ENSP00000250360:S251F	ENSP00000250360:S251F	S	+	2	0	SIGLEC9	56322102	0.000000	0.05858	0.027000	0.17364	0.034000	0.12701	-0.240000	0.08952	1.354000	0.45846	0.407000	0.27541	TCC	.		0.498	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		T	51630290	C	T	51630290	3	4	62	1	0	0	0	0	1	0	0	0	14360	855	30	3	766	3	SIGLEC9	19	51630290	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	459102	51630290	7498693	1387	13755											
SIGLEC12	89858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52003397	52003397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatatcccatggtatatcGgccccttccttgaaccagga	9	12	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:52003397G>A	ENST00000291707.3	-	2	640	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SIGLEC12_ENST00000598614.1_Silent_p.A77A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	195	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGGTATATCGGCCCCTTCCT	0.542																																					p.A195A		.											.	SIGLEC12-96	0			c.C585T						.						147	131	136					19																	52003397		2203	4300	6503	SO:0001819	synonymous_variant	89858	exon2			TATATCGGCCCCT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.585C>T	19.37:g.52003397G>A		Somatic	286	0		WXS	Illumina GAIIx	Phase_I	320	120	NM_053003	0	0	0	0	0	Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																			.		0.542	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52003397	G	A	52003397	2	1	62	1	0	0	0	0	0	0	0	1	14353	1103	39	1		1	SIGLEC12	19	52003397	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	373107	52003397	7125586	1388	13756											
FPR3	2359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52327406	52327406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagcctgggcccagaaCcatcgcaccatgagtctggc	10	16	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:52327406C>T	ENST00000339223.4	+	2	584	c.405C>T	c.(403-405)aaC>aaT	p.N135N	FPR3_ENST00000595991.1_Silent_p.N135N	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	135					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGGCCCAGAACCATCGCACCA	0.468																																					p.N135N		.											.	FPR3-501	0			c.C405T						.						86	72	77					19																	52327406		2203	4300	6503	SO:0001819	synonymous_variant	2359	exon2			CCAGAACCATCGC		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.405C>T	19.37:g.52327406C>T		Somatic	216	0		WXS	Illumina GAIIx	Phase_I	255	91	NM_002030	0	0	1	1	0		Silent	SNP	ENST00000339223.4	37	CCDS12841.1																																																																																			.		0.468	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		T	52327406	C	T	52327406	2	4	62	1	0	0	0	0	0	0	0	1	6064	506	18	3		3	FPR3	19	52327406	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	324009	52327406	6801577	1389	13757											
ZNF415	55786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	53612773	53612773	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaattatttggggtggtgaAactgaggaaccatggttgac	14	4	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:53612773A>T	ENST00000500065.4	-	4	858	c.525T>A	c.(523-525)gtT>gtA	p.V175V	ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.V187V|ZNF415_ENST00000440291.1_Silent_p.V162V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.V223V|ZNF415_ENST00000243643.4_Silent_p.V175V|ZNF415_ENST00000455735.2_Silent_p.V223V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GGGGTGGTGAAACTGAGGAAC	0.383																																					p.V175V		.											.	ZNF415-91	0			c.T525A						.						113	109	110					19																	53612773		2203	4300	6503	SO:0001819	synonymous_variant	55786	exon4			TGGTGAAACTGAG	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.525T>A	19.37:g.53612773A>T		Somatic	97	0		WXS	Illumina GAIIx	Phase_I	108	45	NM_018355	0	0	24	27	3	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	CCDS54313.1																																																																																			.		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		T	53612773	A	T	53612773	2	4	62	1	0	0	0	0	0	0	0	1	17940	1	1	5		5	ZNF415	19	53612773	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1285367	53612773	5516210	1390	13758											
ZNF331	55422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54080878	54080878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatacgggcgagaagccgtAcaagtgcacagaatgtggga	14	8	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54080878A>G	ENST00000253144.9	+	7	2397	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	ZNF331_ENST00000511154.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000513999.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000411977.2_Missense_Mutation_p.Y355C|ZNF331_ENST00000511593.2_Missense_Mutation_p.Y355C|ZNF331_ENST00000512387.1_Missense_Mutation_p.Y355C	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGAAGCCGTACAAGTGCACA	0.527			T	?	follicular thyroid adenoma																																p.Y355C		.		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	ZNF331-663	0			c.A1064G						.						106	92	96					19																	54080878		2203	4300	6503	SO:0001583	missense	55422	exon5			AGCCGTACAAGTG	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1064A>G	19.37:g.54080878A>G	ENSP00000253144:p.Tyr355Cys	Somatic	200	1		WXS	Illumina GAIIx	Phase_I	273	116	NM_001253801	0	0	15	15	0	Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792185	0.31685	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31976	N	0.006768	T	0.46054	0.1373	M	0.75615	2.305	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.30909	-0.9962	10	0.87932	D	0	.	6.9742	0.24666	0.7961:0.0:0.0:0.2039	.	355	Q9NQX6	ZN331_HUMAN	C	355	ENSP00000253144:Y355C;ENSP00000427439:Y355C;ENSP00000393817:Y355C;ENSP00000393336:Y355C;ENSP00000421014:Y355C;ENSP00000423156:Y355C;ENSP00000421728:Y355C	ENSP00000253144:Y355C	Y	+	2	0	ZNF331	58772690	0.877000	0.30153	0.480000	0.27341	0.480000	0.33159	2.249000	0.43169	1.834000	0.53371	0.533000	0.62120	TAC	.		0.527	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		G	54080878	A	G	54080878	3	3	62	1	0	0	0	0	1	0	0	0	17897	391	14	4	1074	4	ZNF331	19	54080878	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	468105	54080878	5048105	1391	13759											
NLRP12	91662	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	54312911	54312911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtccgcgctgtaggtggCgccatacaagtgcagcacct	12	15	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54312911C>T	ENST00000324134.6	-	3	2170	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A668T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A668T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A668T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A668T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A668T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A668T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A668T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	668					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTAGGTGGCGCCATACAAG	0.627																																					p.S668S		.											.	NLRP12-211	0			c.A2002A						.						43	40	41					19																	54312911		2203	4300	6503	SO:0001583	missense	91662	exon3			AGGTGGCGCCATA	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2002G>A	19.37:g.54312911C>T	ENSP00000319377:p.Ala668Thr	Somatic	94	2		WXS	Illumina GAIIx	Phase_I	98	36	NM_144687	0	0	0	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.749	0.322535	0.10900	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	3.86	1.66	0.24008	.	0.688712	0.11894	N	0.519358	T	0.29423	0.0733	L	0.38649	1.16	0.09310	N	0.999997	B;B;B;B	0.29037	0.123;0.123;0.231;0.152	B;B;B;B	0.17722	0.014;0.008;0.019;0.011	T	0.19031	-1.0318	10	0.11794	T	0.64	.	6.1485	0.20298	0.0:0.7449:0.0:0.2551	.	668;668;668;668	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	668	ENSP00000319377:A668T;ENSP00000438030:A668T;ENSP00000340473:A668T;ENSP00000346231:A668T;ENSP00000375655:A668T;ENSP00000375653:A668T;ENSP00000375652:A668T	ENSP00000319377:A668T	A	-	1	0	NLRP12	59004723	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.028000	0.13644	0.234000	0.21139	-0.344000	0.07964	GCC	.		0.627	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54312911	C	T	54312911	3	4	62	1	0	0	0	0	1	0	0	0	10513	768	27	1	1311	1	NLRP12	19	54312911	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	232033	54312911	4816072	1392	13760											
CACNG7	59284	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54445384	54445384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctaccgcccgcgtctcaGcgactgctccgactactcgg	9	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54445384G>A	ENST00000391767.1	+	6	877	c.665G>A	c.(664-666)aGc>aAc	p.S222N	CACNG7_ENST00000222212.2_Missense_Mutation_p.S222N			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	222				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCGCGTCTCAGCGACTGCTCC	0.682																																					p.S222N		.											.	CACNG7-91	0			c.G665A						.						68	62	64					19																	54445384		2203	4300	6503	SO:0001583	missense	59284	exon5			GTCTCAGCGACTG	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.665G>A	19.37:g.54445384G>A	ENSP00000375647:p.Ser222Asn	Somatic	142	1		WXS	Illumina GAIIx	Phase_I	328	137	NM_031896	0	0	0	0	0	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844566	0.91197	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.67171	-0.25;-0.25	4.18	4.18	0.49190	.	0.121117	0.53938	D	0.000048	T	0.69287	0.3094	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.67078	-0.5761	10	0.29301	T	0.29	-25.3974	14.3911	0.66978	0.0:0.0:1.0:0.0	.	222	P62955	CCG7_HUMAN	N	222	ENSP00000375647:S222N;ENSP00000222212:S222N	ENSP00000222212:S222N	S	+	2	0	CACNG7	59137196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.326000	0.65875	2.072000	0.62099	0.491000	0.48974	AGC	.		0.682	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			A	54445384	G	A	54445384	3	1	62	1	0	0	0	0	1	0	0	0	2569	971	34	3	683	3	CACNG7	19	54445384	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	132473	54445384	4683599	1393	13761											
TFPT	29844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	54617860	54617860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgacctagtgcctggtActttctgcgatttaattccc	9	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54617860A>G	ENST00000391759.1	-	2	649	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	TFPT_ENST00000391757.1_Missense_Mutation_p.Y82H|PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391758.1_Missense_Mutation_p.Y73H	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	82					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AGTGCCTGGTACTTTCTGCGA	0.662			T	TCF3	pre-B ALL																																p.Y82H		.		Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	.	TFPT-658	0			c.T244C						.						45	52	50					19																	54617860		2203	4300	6503	SO:0001583	missense	29844	exon2			CCTGGTACTTTCT	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.244T>C	19.37:g.54617860A>G	ENSP00000375639:p.Tyr82His	Somatic	89	1		WXS	Illumina GAIIx	Phase_I	153	66	NM_013342	0	0	28	64	36		Missense_Mutation	SNP	ENST00000391759.1	37	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607162	0.87157	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	5.06	5.06	0.68205	.	0.079189	0.52532	D	0.000079	T	0.68155	0.2970	L	0.52573	1.65	0.46631	D	0.999131	D	0.71674	0.998	D	0.64877	0.93	T	0.68610	-0.5363	9	0.45353	T	0.12	-11.1972	14.1112	0.65121	1.0:0.0:0.0:0.0	.	82	P0C1Z6	TFPT_HUMAN	H	82;73;82	.	ENSP00000375637:Y82H	Y	-	1	0	TFPT	59309672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.424000	0.52764	2.035000	0.60131	0.460000	0.39030	TAC	.		0.662	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		G	54617860	A	G	54617860	3	3	62	1	0	0	0	0	1	0	0	0	15857	391	14	4	537	4	TFPT	19	54617860	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	172476	54617860	4511123	1394	13762											
LENG9	94059	hgsc.bcm.edu	37	chr19	54974329	54974329	+	Frame_Shift_Del	DEL	G	G	-													aggcggccatggaagcggaaGaagcgcacgcggtgctgggg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54974329delG	ENST00000333834.4	-	1	565	c.447delC	c.(445-447)ttcfs	p.F150fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	150							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGAAGCGGAAGAAGCGCACGC	0.731																																					p.F149fs		.											.	LENG9-68	0			c.447delC						.			2,4038		0,2,2018	6	7	7			3.8	1	19		7	36,7916		2,32,3942	no	frameshift	LENG9	NM_198988.1		2,34,5960	A1A1,A1R,RR		0.4527,0.0495,0.3169			54974329	38,11954	2097	4160	6257	SO:0001589	frameshift_variant	94059	exon1			GCGGAAGAAGCGC	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.447delC	19.37:g.54974329delG	ENSP00000331647:p.Phe150fs	Somatic	1	0		WXS	Illumina GAIIx	Phase_I	48	21	NM_198988	0	0	0	0	0	B2VAM3	Frame_Shift_Del	DEL	ENST00000333834.4	37	CCDS12895.2																																																																																			.		0.731	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		-	54974329	G	-	54974329	7	5	62	1	0	1	0	1	0	0	0	0	8753	933	33	0	1062	0	LENG9	19	54974329	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	356469	54974329	4154654	1395	13763											
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55494293	55494293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgtgcacgactctgaaGctgcagatggagaaggggga	16	7	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55494293G>A	ENST00000543010.1	+	6	1370	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	NLRP2_ENST00000391721.4_Silent_p.K385K|NLRP2_ENST00000263437.6_Silent_p.K406K|NLRP2_ENST00000339757.7_Silent_p.K387K|NLRP2_ENST00000538819.1_Silent_p.K385K|NLRP2_ENST00000537859.1_Silent_p.K387K|NLRP2_ENST00000448584.2_Silent_p.K409K|NLRP2_ENST00000427260.2_Silent_p.K386K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGACTCTGAAGCTGCAGATGG	0.667																																					p.K409K		.											.	NLRP2-120	0			c.G1227A						.						32	31	31					19																	55494293		2202	4300	6502	SO:0001819	synonymous_variant	55655	exon6			TCTGAAGCTGCAG	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1227G>A	19.37:g.55494293G>A		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	334	130	NM_017852	0	0	0	0	0	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			.		0.667	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55494293	G	A	55494293	2	1	62	1	0	0	0	0	0	0	0	1	10516	962	34	3		3	NLRP2	19	55494293	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	519964	55494293	3634690	1396	13764											
EPS8L1	54869	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	55598758	55598758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgagccccgaggagggGgcacgtgtgtacagccaggt	19	10	0	1	rs184296169		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55598758G>T	ENST00000201647.6	+	19	2096	c.2040G>T	c.(2038-2040)ggG>ggT	p.G680G	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000588359.1_Silent_p.G366G|EPS8L1_ENST00000245618.5_Silent_p.G553G|EPS8L1_ENST00000540810.1_Silent_p.G616G	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	680					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGAGGAGGGGGCACGTGTGT	0.697																																					p.G680G	Ovarian(149;255 1863 3636 27051 29647)	.											.	EPS8L1-115	0			c.G2040T						.						44	47	46					19																	55598758		2203	4299	6502	SO:0001819	synonymous_variant	54869	exon19			GGAGGGGGCACGT	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2040G>T	19.37:g.55598758G>T		Somatic	65	1		WXS	Illumina GAIIx	Phase_I	140	66	NM_133180	0	0	2	9	7	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	37	CCDS12914.1																																																																																			G|0.999;A|0.000		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		T	55598758	G	T	55598758	2	4	62	1	0	0	0	0	0	0	0	1	5211	1219	43	3		3	EPS8L1	19	55598758	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	104465	55598758	3530225	1397	13765											
TNNI3	7137	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	55667611	55667611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccaactccagcggctgGcagcgggtgctcagagcgcg	16	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55667611G>A	ENST00000344887.5	-	5	382	c.240C>T	c.(238-240)tgC>tgT	p.C80C	DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Silent_p.C55C|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	80		Involved in TNI-TNT interactions.			cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCGGCTGGCAGCGGGTGC	0.652																																					.		.											.	TNNI3-92	0			.						.						12	15	14					19																	55667611		1730	3811	5541	SO:0001819	synonymous_variant	7137	.			CGGCTGGCAGCGG	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.240C>T	19.37:g.55667611G>A		Somatic	58	0		WXS	Illumina GAIIx	Phase_I	157	82	.	0	0	11	15	4		Silent	SNP	ENST00000344887.5	37	CCDS42628.1																																																																																			.		0.652	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			A	55667611	G	A	55667611	2	1	62	1	0	0	0	0	0	0	0	1	16375	1195	42	3		3	TNNI3	19	55667611	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	68853	55667611	3461372	1398	13766											
SAPS1	22870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	55742232	55742232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggaggctgggacagagGtagaggggtctctggttgca	18	9	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55742232G>A	ENST00000412770.2	-	22	3046	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I	TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Missense_Mutation_p.T827I	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	827	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TGGGACAGAGGTAGAGGGGTC	0.662																																					p.T827I		.											.	PPP6R1-67	0			c.C2480T						.						25	32	29					19																	55742232		2022	4188	6210	SO:0001583	missense	22870	exon22			ACAGAGGTAGAGG	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2480C>T	19.37:g.55742232G>A	ENSP00000414202:p.Thr827Ile	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	50	21	NM_014931	0	0	62	131	69	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592008	0.46214	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.51817	0.69	3.49	2.45	0.29901	.	0.225320	0.22869	N	0.054659	T	0.29355	0.0731	N	0.24115	0.695	0.26830	N	0.968605	B;B	0.21753	0.009;0.06	B;B	0.20767	0.014;0.031	T	0.13548	-1.0505	10	0.37606	T	0.19	-24.6564	6.8529	0.24024	0.1281:0.0:0.8719:0.0	.	827;189	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	I	342;827	ENSP00000414202:T827I	ENSP00000414202:T827I	T	-	2	0	PPP6R1	60434044	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	2.778000	0.47726	1.053000	0.40415	0.313000	0.20887	ACC	.		0.662	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		A	55742232	G	A	55742232	3	1	62	1	0	0	0	0	1	0	0	0	13881	1261	44	3	177	3	SAPS1	19	55742232	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	74621	55742232	3386751	1399	13767											
ZNF579	163033	hgsc.bcm.edu	37	chr19	56090309	56090309	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaggcttcgcggcagcgcaGacacagcagcgtccagtctg	14	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56090309G>A	ENST00000325421.4	-	2	725	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGGCAGCGCAGACACAGCAGC	0.731																																					p.L233L		.											.	ZNF579-90	0			c.C697T						.						7	9	8					19																	56090309		2144	4224	6368	SO:0001819	synonymous_variant	163033	exon2			AGCGCAGACACAG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.697C>T	19.37:g.56090309G>A		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	63	27	NM_152600	0	0	4	6	2		Silent	SNP	ENST00000325421.4	37	CCDS12927.1																																																																																			.		0.731	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		A	56090309	G	A	56090309	2	1	62	1	0	0	0	0	0	0	0	1	18059	933	33	3		3	ZNF579	19	56090309	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	348077	56090309	3038674	1400	13768											
ZNF784	147808	hgsc.bcm.edu	37	chr19	56133258	56133258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagccccggccccggCccgtggaagtgggtgcgctg	15	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56133258C>T	ENST00000325351.4	-	2	870	c.831G>A	c.(829-831)ggG>ggA	p.G277G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	277					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)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGGCCCCGGCCCGTGGAAGT	0.716																																					p.G277G		.											.	ZNF784-68	0			c.G831A						.						19	17	18					19																	56133258		2196	4295	6491	SO:0001819	synonymous_variant	147808	exon2			CCCCGGCCCGTGG	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.831G>A	19.37:g.56133258C>T		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	40	16	NM_203374	0	0	1	1	0		Silent	SNP	ENST00000325351.4	37	CCDS12930.1																																																																																			.		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		T	56133258	C	T	56133258	2	4	62	1	0	0	0	0	0	0	0	1	18204	726	26	3		3	ZNF784	19	56133258	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	42949	56133258	2995725	1401	13769											
NLRP8	126205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56473553	56473553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggggcctccttttttgaaGgctctcgcggccgcactgag	13	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56473553G>C	ENST00000291971.3	+	4	2234	c.2163G>C	c.(2161-2163)aaG>aaC	p.K721N	NLRP8_ENST00000590542.1_Missense_Mutation_p.K721N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	721					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)		CTTTTTTGAAGGCTCTCGCGG	0.483																																					p.K721N		.											.	NLRP8-361	0			c.G2163C						.						149	127	135					19																	56473553		2203	4300	6503	SO:0001583	missense	126205	exon4			TTTGAAGGCTCTC	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.2163G>C	19.37:g.56473553G>C	ENSP00000291971:p.Lys721Asn	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	142	75	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.409	-0.335708	0.05278	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	1.93	0.879	0.19155	.	.	.	.	.	T	0.79275	0.4418	L	0.43152	1.355	0.09310	N	1	B;B	0.31859	0.343;0.225	B;B	0.34180	0.177;0.087	T	0.64419	-0.6412	9	0.25106	T	0.35	.	4.1933	0.10431	0.2111:0.0:0.7889:0.0	.	721;721	Q86W28-2;Q86W28	.;NALP8_HUMAN	N	721	ENSP00000291971:K721N	ENSP00000291971:K721N	K	+	3	2	NLRP8	61165365	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.325000	0.07976	0.376000	0.24707	0.508000	0.49915	AAG	.		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		C	56473553	G	C	56473553	3	2	62	1	0	0	0	0	1	0	0	0	10522	991	35	3	2177	3	NLRP8	19	56473553	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	340295	56473553	2655430	1402	13770											
ZNF71	58491	broad.mit.edu	37	chr19	57133639	57133639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagaagccctacgtgtgCggcgagtgcggcaaggcctt	17	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:57133639C>T	ENST00000328070.6	+	3	1218	c.984C>T	c.(982-984)tgC>tgT	p.C328C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCTACGTGTGCGGCGAGTGCG	0.637																																					p.C328C		.											.	ZNF71-91	0			c.C984T						.						84	77	80					19																	57133639		2203	4300	6503	SO:0001819	synonymous_variant	58491	exon3			CGTGTGCGGCGAG	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.984C>T	19.37:g.57133639C>T		Somatic	265	1		WXS	Illumina GAIIx	Phase_I	397	9	NM_021216	0	0	27	27	0	Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	CCDS12947.1																																																																																			.		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		T	57133639	C	T	57133639	2	4	62	1	0	0	0	0	0	0	0	1	18162	776	27	1		1	ZNF71	19	57133639	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	660086	57133639	1995344	1403	13771											
ANGPT4	51378	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	896570	896570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagccactgcgtgttGttctgcagtgcctgctccag	10	13	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:896570G>T	ENST00000381922.3	-	1	390	c.288C>A	c.(286-288)aaC>aaA	p.N96K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.N96K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	96					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						ACTGCGTGTTGTTCTGCAGTG	0.602																																					p.N96K	Pancreas(181;481 2077 3259 31286 49856)	.											.	ANGPT4-92	0			c.C288A						.						125	100	109					20																	896570		2203	4300	6503	SO:0001583	missense	51378	exon1			CGTGTTGTTCTGC	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.288C>A	20.37:g.896570G>T	ENSP00000371347:p.Asn96Lys	Somatic	117	1		WXS	Illumina GAIIx	Phase_I	85	71	NM_015985	0	0	0	0	0	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062239	0.36373	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.11821	2.74;2.74	4.52	2.28	0.28536	.	0.570278	0.16884	N	0.195587	T	0.32010	0.0815	M	0.75615	2.305	0.32127	N	0.587314	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.33954	-0.9848	10	0.72032	D	0.01	.	6.3621	0.21435	0.2598:0.0:0.7402:0.0	.	96;96	B4E3J9;Q9Y264	.;ANGP4_HUMAN	K	96	ENSP00000371347:N96K;ENSP00000439605:N96K	ENSP00000371347:N96K	N	-	3	2	ANGPT4	844570	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.186000	0.42593	0.381000	0.24851	0.484000	0.47621	AAC	.		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		T	896570	G	T	896570	3	4	62	1	0	0	0	0	1	0	0	0	612	1368	48	3	1259	3	ANGPT4	20	896570	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		896570	62128950	1404	13772											
FASTKD5	60493	hgsc.bcm.edu;bcgsc.ca	37	chr20	3128001	3128001	+	Frame_Shift_Del	DEL	C	C	-													tggtgcttgacgtactggggCccccccagcatggtctccag							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3128001delC	ENST00000380266.3	-	2	2037	c.1716delG	c.(1714-1716)gggfs	p.G572fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CGTACTGGGGCCCCCCCAGCA	0.438																																					p.G572fs		.											.	FASTKD5-90	0			c.1716delG						.						63	72	69					20																	3128001		2203	4300	6503	SO:0001589	frameshift_variant	60493	exon2			CTGGGGCCCCCCC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1716delG	20.37:g.3128001delC	ENSP00000369618:p.Gly572fs	Somatic	79	1		WXS	Illumina GAIIx	Phase_I	61	40	NM_021826	0	0	0	0	0	Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Del	DEL	ENST00000380266.3	37	CCDS13048.1																																																																																			.		0.438	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		-	3128001	C	-	3128001	7	5	62	1	0	1	0	1	0	0	0	0	5710	726	26	0	582	0	FASTKD5	20	3128001	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	2231431	3128001	59897519	1405	13773											
ATRN	8455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3546042	3546042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctgatctccaccatgatGtcaacagatttggccattca	7	12	3	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3546042G>T	ENST00000262919.5	+	11	1902	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	ATRN_ENST00000446916.2_Missense_Mutation_p.V612F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	612					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCACCATGATGTCAACAGATT	0.418																																					p.V612F		.											.	ATRN-154	0			c.G1834T						.						118	110	113					20																	3546042		2203	4300	6503	SO:0001583	missense	8455	exon11			CATGATGTCAACA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1834G>T	20.37:g.3546042G>T	ENSP00000262919:p.Val612Phe	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	44	28	NM_139321	0	0	2	26	24	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867515	0.72065	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06218	3.33;3.4	5.25	4.28	0.50868	Kelch-type beta propeller (1);	0.255877	0.39083	N	0.001465	T	0.10252	0.0251	L	0.52759	1.655	0.53688	D	0.999972	P;P	0.49783	0.585;0.928	B;P	0.51135	0.365;0.66	T	0.19128	-1.0315	10	0.10636	T	0.68	-16.9424	12.0765	0.53647	0.1392:0.0:0.8608:0.0	.	612;612	O75882;O75882-2	ATRN_HUMAN;.	F	612;612;538	ENSP00000262919:V612F;ENSP00000416587:V612F	ENSP00000262919:V612F	V	+	1	0	ATRN	3494042	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.830000	0.55768	2.613000	0.88420	0.591000	0.81541	GTC	.		0.418	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		T	3546042	G	T	3546042	3	4	62	1	0	0	0	0	1	0	0	0	1207	1377	48	3	1876	3	ATRN	20	3546042	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	418041	3546042	59479478	1406	13774											
CENPB	1059	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3765726	3765726	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcctcagcctccaagccctCcgaggagctctcctcatctt	7	18	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3765726C>A	ENST00000379751.4	-	1	1611	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	469					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						TCCAAGCCCTCCGAGGAGCTC	0.612																																					p.E469X		.											.	CENPB-227	0			c.G1405T						.						200	170	180					20																	3765726		2203	4300	6503	SO:0001587	stop_gained	1059	exon1			AGCCCTCCGAGGA	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.1405G>T	20.37:g.3765726C>A	ENSP00000369075:p.Glu469*	Somatic	167	4		WXS	Illumina GAIIx	Phase_I	145	112	NM_001810	0	0	9	90	81	Q96EI4	Nonsense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.603024	0.97697	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	.	.	.	4.59	4.59	0.56863	.	0.747043	0.11062	U	0.603898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.176	12.8873	0.58051	0.0:1.0:0.0:0.0	.	.	.	.	X	469;8	.	ENSP00000369075:E469X	E	-	1	0	CENPB	3713726	0.994000	0.37717	0.984000	0.44739	0.825000	0.46686	4.134000	0.57990	2.079000	0.62486	0.561000	0.74099	GAG	.		0.612	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		A	3765726	C	A	3765726	4	1	62	1	0	0	0	0	0	1	0	0	3234	864	30	3	398	3	CENPB	20	3765726	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	219684	3765726	59259794	1407	13775											
SEL1L2	80343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	13850197	13850197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgtcgggccaccctttttCcgcagctttctgaaagtatt	9	12	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:13850197C>T	ENST00000284951.5	-	14	1281	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	403						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CACCCTTTTTCCGCAGCTTTC	0.388																																					p.E403K		.											.	SEL1L2-70	0			c.G1207A						.						104	97	99					20																	13850197		1864	4112	5976	SO:0001583	missense	80343	exon14			CTTTTTCCGCAGC	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1207G>A	20.37:g.13850197C>T	ENSP00000284951:p.Glu403Lys	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	91	70	NM_001271539	0	0	0	0	0	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.017226	0.93404	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.54675	0.56;0.56	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000032	T	0.66479	0.2793	L	0.45744	1.44	0.54753	D	0.99998	P;D	0.76494	0.877;0.999	P;D	0.81914	0.739;0.995	T	0.64896	-0.6299	10	0.45353	T	0.12	-14.0468	16.7744	0.85547	0.0:1.0:0.0:0.0	.	403;403	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	403	ENSP00000367312:E403K;ENSP00000284951:E403K	ENSP00000284951:E403K	E	-	1	0	SEL1L2	13798197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.192000	0.65115	2.638000	0.89438	0.557000	0.71058	GAA	.		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		T	13850197	C	T	13850197	3	4	62	1	0	0	0	0	1	0	0	0	14056	864	30	3	887	3	SEL1L2	20	13850197	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	10084471	13850197	49175323	1408	13776											
CD93	22918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	23065518	23065518	+	Frame_Shift_Del	DEL	G	G	-													gaagcacaagctgtcgcagaGggggccccccgggcccacac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:23065518delG	ENST00000246006.4	-	1	1459	c.1312delC	c.(1312-1314)ctcfs	p.L438fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	438	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGTCGCAGAGGGGGCCCCCC	0.652																																					p.L438fs		.											.	CD93-153	0			c.1312delC						.																																			SO:0001589	frameshift_variant	22918	exon1			CGCAGAGGGGGCC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1312delC	20.37:g.23065518delG	ENSP00000246006:p.Leu438fs	Somatic	84	0		WXS	Illumina GAIIx	Phase_I	56	43	NM_012072	0	0	0	0	0	O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	CCDS13149.1																																																																																			.		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		-	23065518	G	-	23065518	7	5	62	1	0	1	0	1	0	0	0	0	3054	1000	35	0	654	0	CD93	20	23065518	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	9215321	23065518	39960002	1409	13777											
FAM83C	128876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	33874418	33874418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagtttgctgtgacccaGggtcagccgtttctcatccc	10	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:33874418G>T	ENST00000374408.3	-	4	2260	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	722										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGTGACCCAGGGTCAGCCGT	0.577																																					p.L722M		.											.	FAM83C-92	0			c.C2164A						.						97	89	92					20																	33874418		2203	4300	6503	SO:0001583	missense	128876	exon4			GACCCAGGGTCAG	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2164C>A	20.37:g.33874418G>T	ENSP00000363529:p.Leu722Met	Somatic	172	0		WXS	Illumina GAIIx	Phase_I	193	21	NM_178468	0	0	0	0	0	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835825	0.50951	.	.	ENSG00000125998	ENST00000374408	T	0.22336	1.96	4.93	-3.29	0.05017	.	0.192687	0.32753	N	0.005683	T	0.36635	0.0974	M	0.67700	2.07	0.21064	N	0.999792	D	0.89917	1.0	D	0.81914	0.995	T	0.20009	-1.0288	10	0.87932	D	0	-4.437	10.7457	0.46179	0.5291:0.0:0.4708:0.0	.	722	Q9BQN1	FA83C_HUMAN	M	722	ENSP00000363529:L722M	ENSP00000363529:L722M	L	-	1	2	FAM83C	33337832	0.951000	0.32395	0.306000	0.25113	0.931000	0.56810	0.620000	0.24403	-0.519000	0.06444	0.462000	0.41574	CTG	.		0.577	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33874418	G	T	33874418	3	4	62	1	0	0	0	0	1	0	0	0	5657	991	35	3	83	3	FAM83C	20	33874418	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	10808900	33874418	29151102	1410	13778											
GDF5	8200	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34022048	34022048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgctgggtcgcttgcCctggcgagtggccagtgggg	18	10	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:34022048C>A	ENST00000374372.1	-	4	1668	c.1165G>T	c.(1165-1167)Ggc>Tgc	p.G389C	GDF5_ENST00000374369.3_Missense_Mutation_p.G389C|GDF5OS_ENST00000374375.1_Missense_Mutation_p.P31H			P43026	GDF5_HUMAN	growth differentiation factor 5	389					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTCGCTTGCCCTGGCGAGTG	0.592																																					p.G389C		.											.	GDF5-226	0			c.G1165T						.						87	87	87					20																	34022048		2203	4300	6503	SO:0001583	missense	8200	exon2			GCTTGCCCTGGCG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1165G>T	20.37:g.34022048C>A	ENSP00000363492:p.Gly389Cys	Somatic	114	1		WXS	Illumina GAIIx	Phase_I	146	63	NM_000557	0	0	0	0	0	E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.381654|3.381654	0.61845|0.61845	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.81247|.	-1.47;-1.47|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Transforming growth factor-beta, C-terminal (1);|.	0.167110|.	0.40728|.	N|.	0.001040|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.66775|0.66775	-0.5838|-0.5838	10|6	0.87932|0.87932	D|D	0|0	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	389;389|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	C|H	389|31	ENSP00000363489:G389C;ENSP00000363492:G389C|.	ENSP00000363489:G389C|ENSP00000363495:P31H	G|P	-|+	1|2	0|0	GDF5|GDF5OS	33485462|33485462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.761000|2.761000	0.47589|0.47589	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	GGC|CCC	.		0.592	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			A	34022048	C	A	34022048	3	1	62	1	0	0	0	0	1	0	0	0	6342	623	22	3	344	3	GDF5	20	34022048	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	147630	34022048	29003472	1411	13779											
DLGAP4	22839	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	35128865	35128866	+	In_Frame_Ins	INS	-	-	CTA													ccctggctcgagacctcctcINScagctccccagcagagccgg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35128865_35128866insCTA	ENST00000373907.2	+	9	2562_2563	c.2363_2364insCTA	c.(2362-2367)tccagc>tcCTAcagc	p.788_789SS>SYS	DLGAP4_ENST00000340491.4_In_Frame_Ins_p.249_250SS>SYS|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_In_Frame_Ins_p.788_789SS>SYS|DLGAP4_ENST00000373913.3_In_Frame_Ins_p.785_786SS>SYS|DLGAP4_ENST00000401952.2_In_Frame_Ins_p.785_786SS>SYS			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	788					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGACCTCCTCCAGCTCCCCAG	0.649																																					p.S785delinsSY		.											.	DLGAP4-94	0			c.2354_2355insCTA						.																																			SO:0001652	inframe_insertion	22839	exon9			CCTCCTCCAGCTC	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	Exception_encountered	20.37:g.35128865_35128866insCTA	ENSP00000363014:p.Ser788_Ser789insTyr	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	218	40	NM_014902	0	0	0	0	0	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	In_Frame_Ins	INS	ENST00000373907.2	37																																																																																				.		0.649	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		CTA	35128866	-	CTA	35128865	7	5	62	1	0	1	1	0	0	0	0	0	4576	855	30	0	2512	0	DLGAP4	20	35128865	In_Frame_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	1106817	35128865	27896655	1412	13780											
NDRG3	57446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35288763	35288763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaaagttgtatttatagGgttcaggcgggaattgcatt	12	4	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35288763G>A	ENST00000349004.1	-	13	916	c.835C>T	c.(835-837)Cct>Tct	p.P279S	NDRG3_ENST00000373773.3_Missense_Mutation_p.P184S|NDRG3_ENST00000540765.1_Missense_Mutation_p.P175S|NDRG3_ENST00000373803.2_Missense_Mutation_p.P279S|NDRG3_ENST00000359675.2_Missense_Mutation_p.P267S	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	279					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)				GTATTTATAGGGTTCAGGCGG	0.333																																					p.P279S		.											.	NDRG3-91	0			c.C835T						.						123	120	121					20																	35288763		2203	4300	6503	SO:0001583	missense	57446	exon13			TTATAGGGTTCAG	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.835C>T	20.37:g.35288763G>A	ENSP00000345292:p.Pro279Ser	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	99	24	NM_032013	0	0	94	94	0	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555887	0.86231	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.12	5.12	0.69794	.	0.105466	0.64402	D	0.000003	T	0.49133	0.1539	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.998	T	0.56141	-0.8028	10	0.62326	D	0.03	.	16.0977	0.81139	0.0:0.0:1.0:0.0	.	184;267;279	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	S	279;279;267;184;175	ENSP00000345292:P279S;ENSP00000362909:P279S;ENSP00000352703:P267S;ENSP00000362878:P184S;ENSP00000442813:P175S	ENSP00000345292:P279S	P	-	1	0	NDRG3	34722177	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	8.563000	0.90723	2.654000	0.90174	0.655000	0.94253	CCT	.		0.333	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			A	35288763	G	A	35288763	3	1	62	1	0	0	0	0	1	0	0	0	10292	1232	43	3	308	3	NDRG3	20	35288763	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	159898	35288763	27736757	1413	13781											
NDRG3	57446	hgsc.bcm.edu	37	chr20	35350111	35350111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtggtttgatctctgTgagctgaacatcctgaagtt	11	6	1	5			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35350111T>C	ENST00000349004.1	-	2	109	c.28A>G	c.(28-30)Aca>Gca	p.T10A	NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373803.2_Missense_Mutation_p.T10A|NDRG3_ENST00000359675.2_Missense_Mutation_p.T10A	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	10					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)				TTGATCTCTGTGAGCTGAACA	0.343																																					p.T10A		.											.	NDRG3-91	0			c.A28G						.						96	96	96					20																	35350111		2203	4300	6503	SO:0001583	missense	57446	exon2			TCTCTGTGAGCTG	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.28A>G	20.37:g.35350111T>C	ENSP00000345292:p.Thr10Ala	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	100	6	NM_022477	0	0	30	30	0	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782879	0.31502	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.19105	2.17;2.2;2.24	5.21	5.21	0.72293	.	0.099922	0.64402	D	0.000002	T	0.15435	0.0372	L	0.31420	0.93	0.80722	D	1	B;B	0.22909	0.077;0.007	B;B	0.23716	0.048;0.007	T	0.09100	-1.0690	10	0.21014	T	0.42	.	11.3962	0.49843	0.0:0.0:0.0:1.0	.	10;10	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	A	10	ENSP00000345292:T10A;ENSP00000362909:T10A;ENSP00000352703:T10A	ENSP00000345292:T10A	T	-	1	0	NDRG3	34783525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	2.187000	0.69744	0.533000	0.62120	ACA	.		0.343	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			C	35350111	T	C	35350111	3	2	62	1	0	0	0	0	1	0	0	0	10292	1696	59	4	1159	4	NDRG3	20	35350111	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	61348	35350111	27675409	1414	13782											
C20orf132	140699	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35776252	35776252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaccttttcctgtgggtCcccacagagcagtgccatca	9	15	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35776252C>T	ENST00000400441.3	-	10	1134	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	MROH8_ENST00000441008.2_Missense_Mutation_p.D365N|MROH8_ENST00000217333.8_Missense_Mutation_p.D259N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	264																	TCCTGTGGGTCCCCACAGAGC	0.522																																					.		.											.	.	0			.						.						51	55	54					20																	35776252		1989	4158	6147	SO:0001583	missense	140699	.			GTGGGTCCCCACA	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1135G>A	20.37:g.35776252C>T	ENSP00000383291:p.Asp379Asn	Somatic	53	0		WXS	Illumina GAIIx	Phase_I	56	22	.	0	0	0	1	1	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.208945|4.208945	0.79240|0.79240	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458;ENST00000421643	T;T;T|T;T	0.45276|0.05258	2.89;2.89;0.9|3.47;3.47	5.68|5.68	4.74|4.74	0.60224|0.60224	.|.	0.225465|.	0.40064|.	N|.	0.001191|.	T|T	0.10937|0.10937	0.0267|0.0267	M|M	0.70275|0.70275	2.135|2.135	0.40855|0.40855	D|D	0.983786|0.983786	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.996;0.998;0.998;0.998|.	T|T	0.05767|0.05767	-1.0865|-1.0865	10|7	0.72032|0.05525	D|T	0.01|0.97	-12.1772|-12.1772	10.6232|10.6232	0.45491|0.45491	0.0:0.9114:0.0:0.0886|0.0:0.9114:0.0:0.0886	.|.	379;264;389;264|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.;CT132_HUMAN;.;.|.	N|E	365;379;259|57;380	ENSP00000392144:D365N;ENSP00000383291:D379N;ENSP00000217333:D259N|ENSP00000415930:G57E;ENSP00000413544:G380E	ENSP00000217333:D259N|ENSP00000415930:G57E	D|G	-|-	1|2	0|0	C20orf132|C20orf132	35209666|35209666	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.859000|0.859000	0.49053|0.49053	3.516000|3.516000	0.53436|0.53436	1.418000|1.418000	0.47098|0.47098	0.650000|0.650000	0.86243|0.86243	GAC|GGA	.		0.522	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		T	35776252	C	T	35776252	3	4	62	1	0	0	0	0	1	0	0	0	2093	855	30	3	2065	3	C20orf132	20	35776252	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	426141	35776252	27249268	1415	13783											
RPN2	6185	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr20	35833240	35833240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggactggaaacaacagCgttatttgtggctgccacct	11	9	0	1	rs145802754		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35833240C>T	ENST00000237530.6	+	6	937	c.626C>T	c.(625-627)gCg>gTg	p.A209V	RPN2_ENST00000373622.5_Missense_Mutation_p.A177V	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	209					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GAAACAACAGCGTTATTTGTG	0.468																																					p.A209V		.											.	RPN2-93	0			c.C626T						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	123	115	118		530,626	5.4	1	20	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPN2	NM_001135771.1,NM_002951.3	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	177/616,209/632	35833240	1,13005	2203	4300	6503	SO:0001583	missense	6185	exon6			CAACAGCGTTATT	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.626C>T	20.37:g.35833240C>T	ENSP00000237530:p.Ala209Val	Somatic	167	1		WXS	Illumina GAIIx	Phase_I	205	87	NM_002951	0	1	256	473	216	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233900	0.95207	0.0	1.16E-4	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;D;D	0.65684	0.79;0.79;0.915;0.937	T	0.80082	-0.1531	10	0.87932	D	0	-14.8215	16.7195	0.85406	0.0:1.0:0.0:0.0	.	84;177;209;209	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	V	52;209;177;225;225	ENSP00000399137:A52V;ENSP00000237530:A209V;ENSP00000362724:A177V;ENSP00000362735:A225V	ENSP00000237530:A209V	A	+	2	0	RPN2	35266654	1.000000	0.71417	0.960000	0.40013	0.948000	0.59901	5.319000	0.65835	2.814000	0.96858	0.563000	0.77884	GCG	C|1.000;T|0.000		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		T	35833240	C	T	35833240	3	4	62	1	0	0	0	0	1	0	0	0	13653	768	27	1	648	1	RPN2	20	35833240	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	56988	35833240	27192280	1416	13784											
RPN2	6185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	35833294	35833294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgtggggactgagccatCcattaaggaggtacctatct	11	9	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35833294C>T	ENST00000237530.6	+	6	991	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RPN2_ENST00000373622.5_Missense_Mutation_p.S195F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	227					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACTGAGCCATCCATTAAGGAG	0.473																																					p.S227F		.											.	RPN2-93	0			c.C680T						.						88	82	84					20																	35833294		2203	4300	6503	SO:0001583	missense	6185	exon6			AGCCATCCATTAA	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.680C>T	20.37:g.35833294C>T	ENSP00000237530:p.Ser227Phe	Somatic	115	0		WXS	Illumina GAIIx	Phase_I	158	66	NM_002951	0	0	0	0	0	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398401	0.83120	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.39	5.39	0.77823	.	0.184267	0.48286	D	0.000181	T	0.34832	0.0911	N	0.14661	0.345	0.43300	D	0.995299	P;P;P;P	0.45634	0.855;0.501;0.863;0.854	B;B;P;P	0.45681	0.366;0.295;0.49;0.49	T	0.21314	-1.0249	10	0.56958	D	0.05	-17.8487	16.6999	0.85346	0.0:1.0:0.0:0.0	.	102;195;227;227	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	F	70;227;195;243;243	ENSP00000399137:S70F;ENSP00000237530:S227F;ENSP00000362724:S195F;ENSP00000362735:S243F	ENSP00000237530:S227F	S	+	2	0	RPN2	35266708	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.047000	0.76599	2.809000	0.96659	0.557000	0.71058	TCC	.		0.473	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		T	35833294	C	T	35833294	3	4	62	1	0	0	0	0	1	0	0	0	13653	855	30	3	702	3	RPN2	20	35833294	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	54	35833294	27192226	1417	13785											
TGM2	7052	broad.mit.edu;bcgsc.ca	37	chr20	36767875	36767875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcccacgctcttagtGctgatcttcagcccaacgat	8	15	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:36767875G>A	ENST00000361475.2	-	9	1454	c.1281C>T	c.(1279-1281)agC>agT	p.S427S	TGM2_ENST00000536724.1_Silent_p.S367S|TGM2_ENST00000536701.1_Silent_p.S346S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	427					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTCTTAGTGCTGATCTTCA	0.537																																					p.S427S		.											.	TGM2-155	0			c.C1281T						.						127	95	106					20																	36767875		2203	4300	6503	SO:0001819	synonymous_variant	7052	exon9			CTTAGTGCTGATC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1281C>T	20.37:g.36767875G>A		Somatic	247	2		WXS	Illumina GAIIx	Phase_I	308	18	NM_198951	0	0	63	65	2	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																			.		0.537	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		A	36767875	G	A	36767875	2	1	62	1	0	0	0	0	0	0	0	1	15877	1310	46	3		3	TGM2	20	36767875	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	934581	36767875	26257645	1418	13786											
LBP	3929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	36997687	36997687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaactccagggatcagtgCcctctgctccgctcctgaac	10	15	2	1	rs146665734		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:36997687C>T	ENST00000217407.2	+	10	1191	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	344					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGATCAGTGCCCTCTGCTCC	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		18559	0		0	False		,,,				2504	0				p.P344S		.											.	LBP-91	0			c.C1030T						.	C	SER/PRO	4,4402	8.1+/-20.4	0,4,2199	121	119	119		1030	-4.7	0	20	dbSNP_134	119	0,8600		0,0,4300	yes	missense	LBP	NM_004139.2	74	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	344/482	36997687	4,13002	2203	4300	6503	SO:0001583	missense	3929	exon10			TCAGTGCCCTCTG		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1030C>T	20.37:g.36997687C>T	ENSP00000217407:p.Pro344Ser	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	86	35	NM_004139	0	0	0	0	0	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.817294	0.00595	9.08E-4	0.0	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07567	3.18	5.54	-4.68	0.03309	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.928540	0.02131	N	0.056380	T	0.03220	0.0094	N	0.05383	-0.06	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34079	-0.9843	10	0.07990	T	0.79	-2.7809	2.1333	0.03755	0.3409:0.1973:0.3561:0.1057	.	344	P18428	LBP_HUMAN	S	344	ENSP00000217407:P344S	ENSP00000217407:P344S	P	+	1	0	LBP	36431101	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.855000	0.04295	-0.533000	0.06323	-1.720000	0.00707	CCC	C|1.000;T|0.000		0.517	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		T	36997687	C	T	36997687	3	4	62	1	0	0	0	0	1	0	0	0	8679	739	26	3	1068	3	LBP	20	36997687	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	229812	36997687	26027833	1419	13787											
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	39830791	39830791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcactgttctcagacacCtctgaataggtgtcacccat	7	13	4	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:39830791C>A	ENST00000309060.3	-	4	3181	c.2766G>T	c.(2764-2766)gaG>gaT	p.E922D	ZHX3_ENST00000559234.1_Missense_Mutation_p.E922D|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E922D|ZHX3_ENST00000540170.1_Missense_Mutation_p.E922D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.E922D|ZHX3_ENST00000544979.2_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	922					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)				TCTCAGACACCTCTGAATAGG	0.602																																					p.E922D		.											.	ZHX3-93	0			c.G2766T						.						127	118	121					20																	39830791		2203	4300	6503	SO:0001583	missense	23051	exon3			AGACACCTCTGAA	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.2766G>T	20.37:g.39830791C>A	ENSP00000312222:p.Glu922Asp	Somatic	129	0		WXS	Illumina GAIIx	Phase_I	164	69	NM_015035	0	0	16	25	9	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857341|1.857341	0.32791|0.32791	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262|ENST00000421422	T;T|.	0.12255|.	2.7;2.7|.	6.02|6.02	1.8|1.8	0.24995|0.24995	.|.	0.128306|.	0.50627|.	D|.	0.000118|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.34521|0.34521	1.04|1.04	0.25720|0.25720	N|N	0.98539|0.98539	P;P|.	0.49358|.	0.923;0.923|.	B;B|.	0.43838|.	0.433;0.433|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|5	0.72032|.	D|.	0.01|.	-8.1044|-8.1044	9.2838|9.2838	0.37744|0.37744	0.0:0.5663:0.0:0.4337|0.0:0.5663:0.0:0.4337	.|.	922;922|.	A8K8Q0;Q9H4I2|.	.;ZHX3_HUMAN|.	D|C	922;922;922;700|631	ENSP00000362360:E922D;ENSP00000442290:E922D|.	ENSP00000312222:E922D|.	E|G	-|-	3|1	2|0	ZHX3|ZHX3	39264205|39264205	0.014000|0.014000	0.17966|0.17966	0.921000|0.921000	0.36526|0.36526	0.795000|0.795000	0.44927|0.44927	-0.021000|-0.021000	0.12504|0.12504	0.392000|0.392000	0.25172|0.25172	0.655000|0.655000	0.94253|0.94253	GAG|GGT	.		0.602	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		A	39830791	C	A	39830791	3	1	62	1	0	0	0	0	1	0	0	0	17725	680	24	3	112	3	ZHX3	20	39830791	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2833104	39830791	23194729	1420	13788											
PTPRT	11122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	40713472	40713472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgctggactatacgaTaaccatcctgtggctgagaa	13	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:40713472T>G	ENST00000373187.1	-	29	3985	c.3986A>C	c.(3985-3987)tAt>tCt	p.Y1329S	PTPRT_ENST00000356100.2_Missense_Mutation_p.Y1338S|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y1319S|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y1328S|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y1332S|PTPRT_ENST00000373198.4_Missense_Mutation_p.Y1348S|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y1339S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1329	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Y -> F (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACTATACGATAACCATCCTG	0.582																																					p.Y1348S		.											.	PTPRT-664	0			c.A4043C						.						60	66	64					20																	40713472		2080	4191	6271	SO:0001583	missense	11122	exon30			ATACGATAACCAT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3986A>C	20.37:g.40713472T>G	ENSP00000362283:p.Tyr1329Ser	Somatic	136	0		WXS	Illumina GAIIx	Phase_I	169	78	NM_133170	0	0	0	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791395	0.70452	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.134613	0.51477	D	0.000081	T	0.79209	0.4407	N	0.05050	-0.12	0.80722	D	1	P;P	0.51933	0.936;0.949	P;P	0.56343	0.693;0.796	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1351;1329	O14522-1;O14522	.;PTPRT_HUMAN	S	1328;1329;1332;1338;1351;1339;1319	ENSP00000362286:Y1328S;ENSP00000362283:Y1329S;ENSP00000362289:Y1332S;ENSP00000348408:Y1338S;ENSP00000362294:Y1351S;ENSP00000362280:Y1339S;ENSP00000362297:Y1319S	ENSP00000348408:Y1338S	Y	-	2	0	PTPRT	40146886	1.000000	0.71417	0.944000	0.38274	0.974000	0.67602	7.766000	0.85320	2.333000	0.79357	0.533000	0.62120	TAT	.		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			G	40713472	T	G	40713472	3	3	62	1	0	0	0	0	1	0	0	0	12857	1406	49	5	351	5	PTPRT	20	40713472	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	882681	40713472	22312048	1421	13789											
JPH2	57158	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	42788359	42788359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaccttgttgctcttgagCtgcagcatgcggcgcttggt	14	11	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:42788359C>T	ENST00000372980.3	-	2	1940	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	356					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCTCTTGAGCTGCAGCATGC	0.667																																					p.Q356Q		.											.	JPH2-91	0			c.G1068A						.						51	43	46					20																	42788359		2203	4300	6503	SO:0001819	synonymous_variant	57158	exon2			CTTGAGCTGCAGC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1068G>A	20.37:g.42788359C>T		Somatic	90	1		WXS	Illumina GAIIx	Phase_I	163	74	NM_020433	0	0	0	2	2	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																			.		0.667	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			T	42788359	C	T	42788359	2	4	62	1	0	0	0	0	0	0	0	1	7988	796	28	3		3	JPH2	20	42788359	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2074887	42788359	20237161	1422	13790											
WISP2	8839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43348580	43348580	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccatgtacctgcccctggCcacctccccgatgcccgctg	8	21	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:43348580C>A	ENST00000372868.2	+	3	446	c.103C>A	c.(103-105)Cca>Aca	p.P35T	WISP2_ENST00000190983.4_Missense_Mutation_p.P35T|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.P35T			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCCCCTGGCCACCTCCCCG	0.667																																					p.P35T		.											.	WISP2-130	0			c.C103A						.						46	36	40					20																	43348580		2202	4298	6500	SO:0001583	missense	8839	exon2			CCCTGGCCACCTC	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.103C>A	20.37:g.43348580C>A	ENSP00000361959:p.Pro35Thr	Somatic	98	0		WXS	Illumina GAIIx	Phase_I	117	52	NM_003881	0	0	90	100	10	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	C	0.329	-0.957331	0.02267	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	T;T;T	0.62105	0.05;0.05;0.05	5.41	-0.0962	0.13637	Insulin-like growth factor-binding protein, IGFBP (3);	0.970398	0.08511	N	0.934937	T	0.28599	0.0708	N	0.02286	-0.61	0.09310	N	0.999998	B;B	0.15719	0.014;0.002	B;B	0.12837	0.008;0.005	T	0.25082	-1.0142	10	0.13853	T	0.58	-30.124	2.9925	0.05988	0.3992:0.3624:0.0918:0.1466	.	35;35	Q6PEG3;O76076	.;WISP2_HUMAN	T	35	ENSP00000361959:P35T;ENSP00000361956:P35T;ENSP00000190983:P35T	ENSP00000190983:P35T	P	+	1	0	WISP2	42781994	0.000000	0.05858	0.994000	0.49952	0.083000	0.17756	-0.885000	0.04161	0.619000	0.30197	-0.149000	0.13747	CCA	.		0.667	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		A	43348580	C	A	43348580	3	1	62	1	0	0	0	0	1	0	0	0	17422	739	26	3	109	3	WISP2	20	43348580	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	560221	43348580	19676940	1423	13791											
KCNS1	3787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43726370	43726370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgagtacgcggaagatgCgcatgaggcggaacacctgc	14	10	0	3	rs375471015		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:43726370C>T	ENST00000306117.1	-	4	1439	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	KCNS1_ENST00000537075.1_Missense_Mutation_p.R348H	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	348					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCGGAAGATGCGCATGAGGCG	0.662																																					p.R348H		.											.	KCNS1-90	0			c.G1043A						.						55	44	48					20																	43726370		2203	4299	6502	SO:0001583	missense	3787	exon4			AAGATGCGCATGA	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1043G>A	20.37:g.43726370C>T	ENSP00000307694:p.Arg348His	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	166	87	NM_002251	0	0	0	0	0	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234470	0.95207	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.99591	-6.24;-6.24	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.94542	3.55	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.97240	0.9890	10	0.87932	D	0	.	18.9863	0.92771	0.0:1.0:0.0:0.0	.	348	Q96KK3	KCNS1_HUMAN	H	348	ENSP00000307694:R348H;ENSP00000445595:R348H	ENSP00000307694:R348H	R	-	2	0	KCNS1	43159784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.490000	0.84030	0.561000	0.74099	CGC	.		0.662	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43726370	C	T	43726370	3	4	62	1	0	0	0	0	1	0	0	0	8115	768	27	1	545	1	KCNS1	20	43726370	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	377790	43726370	19299150	1424	13792											
DNTTIP1	116092	hgsc.bcm.edu	37	chr20	44420682	44420682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagccgcggggaccTagcggggccgagaggggcgg	22	12	0	1	rs2664591	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000372630.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4	6	5		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	6	6	NM_052951	0	0	0	7	7	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		C	44420682	T	C	44420682	2	2	62	1	0	0	0	0	0	0	0	1	4695	1509	53	4		4	DNTTIP1	20	44420682	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	694312	44420682	18604838	1425	13793											
ZSWIM3	140831	broad.mit.edu	37	chr20	44486488	44486488	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagctgggcagctgcttcaaGacctatgaggacttcaagga	13	9	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44486488G>A	ENST00000255152.2	+	1	233	c.24G>A	c.(22-24)aaG>aaA	p.K8K	ZSWIM3_ENST00000454862.2_5'UTR|ACOT8_ENST00000217455.4_5'Flank	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	8							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)				GCTGCTTCAAGACCTATGAGG	0.592																																					p.K8K		.											.	ZSWIM3-92	0			c.G24A						.						149	148	149					20																	44486488		2203	4300	6503	SO:0001819	synonymous_variant	140831	exon1			CTTCAAGACCTAT	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.24G>A	20.37:g.44486488G>A		Somatic	94	0		WXS	Illumina GAIIx	Phase_I	117	6	NM_080752	0	0	1	1	0	Q9BR13	Silent	SNP	ENST00000255152.2	37	CCDS13381.1																																																																																			.		0.592	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		A	44486488	G	A	44486488	2	1	62	1	0	0	0	0	0	0	0	1	18290	933	33	3		3	ZSWIM3	20	44486488	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	65806	44486488	18539032	1426	13794											
ZNF335	63925	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	44586256	44586256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccagttcccgctgaGcactcatgttcagcagaaga	9	15	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44586256G>A	ENST00000322927.2	-	17	2511	c.2411C>T	c.(2410-2412)gCt>gTt	p.A804V	ZNF335_ENST00000426788.1_Missense_Mutation_p.A649V	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	804					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTCCCGCTGAGCACTCATGTT	0.632																																					p.A804V		.											.	ZNF335-94	0			c.C2411T						.						60	54	56					20																	44586256		2203	4300	6503	SO:0001583	missense	63925	exon17			CGCTGAGCACTCA	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2411C>T	20.37:g.44586256G>A	ENSP00000325326:p.Ala804Val	Somatic	108	1		WXS	Illumina GAIIx	Phase_I	119	31	NM_022095	0	0	2	3	1	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910270	0.52439	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.11;2.98	5.26	5.26	0.73747	.	0.267225	0.36374	N	0.002631	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.28650	-1.0037	10	0.35671	T	0.21	-7.3961	16.1908	0.81987	0.0:0.0:1.0:0.0	.	649;804	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	V	804;581;649	ENSP00000325326:A804V;ENSP00000397098:A649V	ENSP00000243961:A581V	A	-	2	0	ZNF335	44019663	0.938000	0.31826	0.034000	0.17996	0.925000	0.55904	3.833000	0.55790	2.735000	0.93741	0.563000	0.77884	GCT	.		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		A	44586256	G	A	44586256	3	1	62	1	0	0	0	0	1	0	0	0	17900	971	34	3	1665	3	ZNF335	20	44586256	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	99768	44586256	18439264	1427	13795											
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45865241	45865241	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgtggatgggctctgtgtGatctccttctgctggacagc	14	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:45865241G>A	ENST00000311275.7	-	16	2878	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	ZMYND8_ENST00000372023.3_Silent_p.I824I|ZMYND8_ENST00000458360.2_Silent_p.I743I|ZMYND8_ENST00000396281.4_Silent_p.I875I|ZMYND8_ENST00000540497.1_Silent_p.I823I|ZMYND8_ENST00000461685.1_Silent_p.I849I|ZMYND8_ENST00000360911.3_Silent_p.I824I|ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000262975.4_Silent_p.I829I|ZMYND8_ENST00000536340.1_Silent_p.I902I|ZMYND8_ENST00000471951.2_Silent_p.I895I|ZMYND8_ENST00000355972.4_Silent_p.I875I|ZMYND8_ENST00000352431.2_Silent_p.I849I|ZMYND8_ENST00000446994.2_Silent_p.I766I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	875					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGCTCTGTGTGATCTCCTTCT	0.587																																					p.I849I		.											.	ZMYND8-252	0			c.C2547T						.						181	120	141					20																	45865241		2203	4300	6503	SO:0001819	synonymous_variant	23613	exon16			CTGTGTGATCTCC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2625C>T	20.37:g.45865241G>A		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	139	64	NM_183047	0	0	11	21	10	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	9.862	1.196587	0.22037	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	T	0.64907	0.2641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62483	-0.6845	4	.	.	.	0.0211	12.4271	0.55553	0.0767:0.0:0.9233:0.0	.	.	.	.	Y	757	.	.	H	-	1	0	ZMYND8	45298648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.695000	0.91970	0.655000	0.94253	CAC	.		0.587	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		A	45865241	G	A	45865241	2	1	62	1	0	0	0	0	0	0	0	1	17759	1280	45	3		3	ZMYND8	20	45865241	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1278985	45865241	17160279	1428	13796											
KCNB1	3745	ucsc.edu;bcgsc.ca	37	chr20	47991197	47991197	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcggagaattcgcatgatGcggaagatctggaccacgcg	14	9	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:47991197G>T	ENST00000371741.4	-	2	1066	c.900C>A	c.(898-900)cgC>cgA	p.R300R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	300					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)	TTCGCATGATGCGGAAGATCT	0.537																																					p.R300R		.											.	KCNB1-92	0			c.C900A						.						88	81	83					20																	47991197		2203	4300	6503	SO:0001819	synonymous_variant	3745	exon2			CATGATGCGGAAG	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.900C>A	20.37:g.47991197G>T		Somatic	192	2		WXS	Illumina GAIIx	Phase_I	202	84	NM_004975	0	0	0	0	0	Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																			.		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		T	47991197	G	T	47991197	2	4	62	1	0	0	0	0	0	0	0	1	8039	1306	46	3		3	KCNB1	20	47991197	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2125956	47991197	15034323	1429	13797											
TMEM189	387522	hgsc.bcm.edu	37	chr20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggcccggccagtTctcggcgcccgccatggcca	13	18	1	0	rs232733		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D|TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D|TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1	1	1	5008	,	,		6103	1		1	False		,,,				2504	1				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2	2	2					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	9	8	NM_199129	0	0	0	3	3		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			C	48770159	T	C	48770159	3	2	62	1	0	0	0	0	1	0	0	0	16158	1783	62	4	820	4	TMEM189	20	48770159	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	778962	48770159	14255361	1430	13798											
ADNP	23394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	49508387	49508387	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcgtcttggtcaacctcaCtatcagatgcattgtgcatt	7	11	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:49508387C>G	ENST00000396029.3	-	5	3431	c.2864G>C	c.(2863-2865)aGt>aCt	p.S955T	ADNP_ENST00000396032.3_Missense_Mutation_p.S955T|ADNP_ENST00000349014.3_Missense_Mutation_p.S955T|ADNP_ENST00000371602.4_Missense_Mutation_p.S955T	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	955					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTCAACCTCACTATCAGATGC	0.443																																					p.S955T		.											.	ADNP-92	0			c.G2864C						.						175	167	170					20																	49508387		2203	4300	6503	SO:0001583	missense	23394	exon5			ACCTCACTATCAG	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2864G>C	20.37:g.49508387C>G	ENSP00000379346:p.Ser955Thr	Somatic	247	0		WXS	Illumina GAIIx	Phase_I	257	97	NM_015339	0	0	50	104	54	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360680	0.24598	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.17	6.17	0.99709	.	0.132495	0.53938	D	0.000043	T	0.41971	0.1182	N	0.19112	0.55	0.45216	D	0.998223	P	0.47409	0.895	B	0.38056	0.264	T	0.46911	-0.9157	9	0.72032	D	0.01	-2.291	20.8794	0.99867	0.0:1.0:0.0:0.0	.	955	Q9H2P0	ADNP_HUMAN	T	955	.	ENSP00000342905:S955T	S	-	2	0	ADNP	48941794	1.000000	0.71417	0.962000	0.40283	0.457000	0.32468	3.480000	0.53172	2.941000	0.99782	0.655000	0.94253	AGT	.		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		G	49508387	C	G	49508387	3	3	62	1	0	0	0	0	1	0	0	0	323	565	20	3	448	3	ADNP	20	49508387	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	738228	49508387	13517133	1431	13799											
ZFP64	55734	broad.mit.edu;bcgsc.ca	37	chr20	50769338	50769338	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcttgctggggtcgaTctgaaactggagaacggtca	16	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:50769338T>A	ENST00000216923.4	-	6	1742	c.1393A>T	c.(1393-1395)Atc>Ttc	p.I465F	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I463F|ZFP64_ENST00000346617.4_Missense_Mutation_p.I411F|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGGGTCGATCTGAAACTGG	0.612																																					p.I465F		.											.	ZFP64-155	0			c.A1393T						.						69	52	58					20																	50769338		2203	4300	6503	SO:0001583	missense	55734	exon6			GGTCGATCTGAAA	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.1393A>T	20.37:g.50769338T>A	ENSP00000216923:p.Ile465Phe	Somatic	83	2		WXS	Illumina GAIIx	Phase_I	108	40	NM_018197	0	0	3	9	6	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	2.187	-0.386137	0.04966	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07114	3.22;3.27;3.23	5.48	-3.85	0.04243	.	0.639000	0.14360	N	0.324469	T	0.03520	0.0101	N	0.08118	0	0.21256	N	0.999749	B;B;B	0.27853	0.191;0.047;0.047	B;B;B	0.26614	0.071;0.024;0.024	T	0.36768	-0.9734	10	0.87932	D	0	-12.2941	7.1272	0.25479	0.0:0.3195:0.3342:0.3463	.	411;463;465	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	F	465;411;463;307;618	ENSP00000216923:I465F;ENSP00000344615:I411F;ENSP00000360570:I463F	ENSP00000216923:I465F	I	-	1	0	ZFP64	50202745	0.956000	0.32656	0.182000	0.23118	0.035000	0.12851	0.265000	0.18515	-0.485000	0.06754	-0.361000	0.07541	ATC	.		0.612	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		A	50769338	T	A	50769338	3	1	62	1	0	0	0	0	1	0	0	0	17700	1435	50	5	1847	5	ZFP64	20	50769338	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1260951	50769338	12256182	1432	13800											
TSHZ2	128553	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	51872146	51872146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccttgcgctcacctTcctgctccagcccaagttca	8	18	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:51872146T>C	ENST00000371497.5	+	2	3036	c.2149T>C	c.(2149-2151)Tcc>Ccc	p.S717P	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S714P|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S714P|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	717					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)			GCGCTCACCTTCCTGCTCCAG	0.577																																					p.S717P		.											.	TSHZ2-232	0			c.T2149C						.						70	66	67					20																	51872146		2203	4300	6503	SO:0001583	missense	128553	exon2			TCACCTTCCTGCT	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.2149T>C	20.37:g.51872146T>C	ENSP00000360552:p.Ser717Pro	Somatic	106	1		WXS	Illumina GAIIx	Phase_I	136	55	NM_173485	0	0	5	9	4	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519090	0.27211	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.15139	2.46;2.45	5.72	-1.48	0.08745	.	0.547311	0.20065	N	0.099983	T	0.16428	0.0395	L	0.57536	1.79	0.20975	N	0.999817	B	0.27068	0.167	B	0.23419	0.046	T	0.20107	-1.0285	10	0.45353	T	0.12	-1.2914	13.2932	0.60282	0.0:0.0646:0.668:0.2674	.	717	Q9NRE2	TSH2_HUMAN	P	717;714;243	ENSP00000360552:S717P;ENSP00000333114:S714P	ENSP00000333114:S714P	S	+	1	0	TSHZ2	51305553	0.202000	0.23423	0.182000	0.23118	0.990000	0.78478	0.909000	0.28558	-0.193000	0.10415	0.523000	0.50628	TCC	.		0.577	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		C	51872146	T	C	51872146	3	2	62	1	0	0	0	0	1	0	0	0	16672	1783	62	4	2155	4	TSHZ2	20	51872146	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	1102808	51872146	11153374	1433	13801											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	57429537	57429537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgatcctgactccggggCaaccccagaagatcccgact	10	16	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:57429537C>A	ENST00000371100.4	+	1	1769	c.1217C>A	c.(1216-1218)gCa>gAa	p.A406E	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.A406E|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.Q343K|GNAS_ENST00000371102.4_Missense_Mutation_p.A406E|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	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)			GACTCCGGGGCAACCCCAGAA	0.726			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.A406E	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	.	GNAS-4767	0			c.C1217A						.						4	7	6					20																	57429537		1949	4058	6007	SO:0001583	missense	2778	exon1			CCGGGGCAACCCC	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	ENST00000371100.4:c.1217C>A	20.37:g.57429537C>A	ENSP00000360141:p.Ala406Glu	Somatic	24	0		WXS	Illumina GAIIx	Phase_I	53	22	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685650|2.685650	0.47991|0.47991	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.91011|.	-2.77;-2.75|.	4.14|4.14	1.88|1.88	0.25563|0.25563	.|.	262.475000|.	0.00397|.	N|.	0.000042|.	T|T	0.34164|0.34164	0.0888|0.0888	L|L	0.48642|0.48642	1.525|1.525	0.21604|0.21604	N|N	0.999628|0.999628	P|.	0.48911|.	0.917|.	B|.	0.44315|.	0.446|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|6	0.45353|0.05525	T|T	0.12|0.97	.|.	11.5889|11.5889	0.50935|0.50935	0.0:0.6557:0.3443:0.0|0.0:0.6557:0.3443:0.0	.|.	406|.	Q5JWF2|.	GNAS1_HUMAN|.	E|K	406|343	ENSP00000360141:A406E;ENSP00000360143:A406E|.	ENSP00000360140:A406E|ENSP00000302237:Q343K	A|Q	+|+	2|1	0|0	GNAS|GNAS	56862932|56862932	0.004000|0.004000	0.15560|0.15560	0.098000|0.098000	0.21074|0.21074	0.196000|0.196000	0.23810|0.23810	0.000000|0.000000	0.12993|0.12993	0.993000|0.993000	0.38866|0.38866	0.462000|0.462000	0.41574|0.41574	GCA|CAA	.		0.726	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		A	57429537	C	A	57429537	3	1	62	1	0	0	0	0	1	0	0	0	6536	711	25	3	1961	3	GNAS	20	57429537	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5557391	57429537	5595983	1434	13802											
SS18L1	26039	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	60738545	60738545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaggcggccacgtcGcactacagctcggcgcaggg	15	15	0	0	rs149920292	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:60738545G>A	ENST00000331758.3	+	6	614	c.588G>A	c.(586-588)tcG>tcA	p.S196S	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Silent_p.S199S|SS18L1_ENST00000421564.1_Silent_p.S196S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	196	Gln-rich.|Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.S196S(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGCCACGTCGCACTACAGCT	0.677			T	SSX1	synovial sarcoma								G|||	3	0.000599042	0.0023	0	5008	,	,		11387	0		0	False		,,,				2504	0				p.S196S		.		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	.	SS18L1-660	1	Substitution - coding silent(1)	endometrium(1)	c.G588A						.	G		6,4396		0,6,2195	32	36	34		588	-3.7	0.9	20	dbSNP_134	34	0,8596		0,0,4298	no	coding-synonymous	SS18L1	NM_198935.1		0,6,6493	AA,AG,GG		0.0,0.1363,0.0462		196/397	60738545	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	26039	exon6			CACGTCGCACTAC	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.588G>A	20.37:g.60738545G>A		Somatic	61	0		WXS	Illumina GAIIx	Phase_I	169	73	NM_198935	0	0	4	7	3	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	CCDS13491.1																																																																																			G|0.999;A|0.001		0.677	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			A	60738545	G	A	60738545	2	1	62	1	0	0	0	0	0	0	0	1	15223	1074	38	1		1	SS18L1	20	60738545	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3309008	60738545	2286975	1435	13803											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	60887715	60887715	+	Frame_Shift_Del	DEL	C	C	-													gcagctggtcgggcggcacgCcccccaggtagtaggcgtcg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:60887715delC	ENST00000252999.3	-	67	9266	c.9200delG	c.(9199-9201)ggcfs	p.G3067fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3067	Laminin G-like 2. {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)			GGGCGGCACGCCCCCCAGGTA	0.706																																					p.G3067fs		.											.	LAMA5-93	0			c.9200delG						.						25	24	25					20																	60887715		2183	4284	6467	SO:0001589	frameshift_variant	3911	exon67			GGCACGCCCCCCA	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.9200delG	20.37:g.60887715delC	ENSP00000252999:p.Gly3067fs	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	245	83	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	ENST00000252999.3	37	CCDS33502.1																																																																																			.		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		-	60887715	C	-	60887715	7	5	62	1	0	1	0	1	0	0	0	0	8637	739	26	0	1943	0	LAMA5	20	60887715	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	149170	60887715	2137805	1436	13804											
OGFR	11054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	61444339	61444339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgacaaggtgaggaagCggaggaaggtggatgagggt	21	4	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:61444339C>T	ENST00000290291.6	+	7	1397	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	OGFR_ENST00000370461.1_Missense_Mutation_p.R406W	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	458					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)					GGTGAGGAAGCGGAGGAAGGT	0.711																																					p.R458W		.											.	OGFR-68	0			c.C1372T						.						29	33	32					20																	61444339		2192	4296	6488	SO:0001583	missense	11054	exon7			AGGAAGCGGAGGA	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.1372C>T	20.37:g.61444339C>T	ENSP00000290291:p.Arg458Trp	Somatic	84	1		WXS	Illumina GAIIx	Phase_I	170	61	NM_007346	0	0	14	23	9	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089706	0.55968	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.41065	1.5;1.01	4.99	0.0866	0.14447	.	0.583503	0.15493	N	0.259422	T	0.30727	0.0774	L	0.51422	1.61	0.09310	N	1	P;P;P	0.47910	0.902;0.902;0.902	B;B;B	0.35607	0.206;0.206;0.206	T	0.19614	-1.0300	10	0.87932	D	0	-31.1244	9.5941	0.39563	0.5786:0.344:0.0:0.0773	.	458;441;458	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	W	458;458;313;406	ENSP00000290291:R458W;ENSP00000359491:R406W	ENSP00000290291:R458W	R	+	1	2	OGFR	60914784	0.932000	0.31603	0.983000	0.44433	0.509000	0.34042	-0.030000	0.12308	0.101000	0.17610	0.561000	0.74099	CGG	.		0.711	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			T	61444339	C	T	61444339	3	4	62	1	0	0	0	0	1	0	0	0	10882	759	27	1	1398	1	OGFR	20	61444339	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	556624	61444339	1581181	1437	13805											
DIDO1	11083	broad.mit.edu	37	chr20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-													agcggtccttccggtgctgcGgggggtggctgggaagctcc					rs536914525	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:61511207delG	ENST00000266070.4	-	16	6426	c.6101delC	c.(6100-6102)ccgfs	p.P2034fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.P2034fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2034	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGGTGCTGCGGGGGGTGGCT	0.716																																					p.P2034fs	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.6101delC						.						25	32	30					20																	61511207		1925	3900	5825	SO:0001589	frameshift_variant	11083	exon16			TGCTGCGGGGGGT	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.6101delC	20.37:g.61511207delG	ENSP00000266070:p.Pro2034fs	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	15	7	NM_001193369	0	0	0	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	CCDS33506.1																																																																																			.		0.716	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		-	61511207	G	-	61511207	7	5	62	1	0	1	0	1	0	0	0	0	4536	1116	39	0	625	0	DIDO1	20	61511207	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	66868	61511207	1514313	1438	13806											
SRMS	6725	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	62178771	62178773	+	In_Frame_Del	DEL	AGA	AGA	-													cgccggccagatcttgtcccAgaagaaggacaggaaggcca							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:62178771_62178773delAGA	ENST00000217188.1	-	1	84_86	c.44_46delTCT	c.(43-48)ttctgg>tgg	p.F15del		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	15	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ATCTTGTCCCAGAAGAAGGACAG	0.724																																					p.15_16del		.											.	SRMS-521	0			c.44_46del						.																																			SO:0001651	inframe_deletion	6725	exon1			TGTCCCAGAAGAA		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.44_46delTCT	20.37:g.62178774_62178776delAGA	ENSP00000217188:p.Phe15del	Somatic	29	0		WXS	Illumina GAIIx	Phase_I	131	0	NM_080823	0	0	0	0	0		In_Frame_Del	DEL	ENST00000217188.1	37	CCDS13525.1																																																																																			.		0.724	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		-	62178773	AGA	-	62178771	7	5	62	1	0	1	0	1	0	0	0	0	15199	188	7	0	1452	0	SRMS	20	62178771	In_Frame_Del	DEL	AGA	TCGA-PK-A5HB-01A-11D-A29I-10	667564	62178771	846749	1439	13807											
TPTE	7179	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	10916394	10916394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgaataaataatgaagtGttttataaagagtatccgtc	7	4	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:10916394G>A	ENST00000361285.4	-	20	1581	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	TPTE_ENST00000342420.5_Missense_Mutation_p.H380Y|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.H400Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	418	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)		ATAATGAAGTGTTTTATAAAG	0.393																																					p.H418Y		.											.	TPTE-344	0			c.C1252T						.						126	113	117					21																	10916394		2203	4300	6503	SO:0001583	missense	7179	exon20			TGAAGTGTTTTAT	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.1252C>T	21.37:g.10916394G>A	ENSP00000355208:p.His418Tyr	Somatic	469	1		WXS	Illumina GAIIx	Phase_I	432	52	NM_199261	0	0	6	6	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	6.015	0.371074	0.11409	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84873	-1.91;-1.91;-1.91	1.79	0.505	0.16953	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.339250	0.34067	N	0.004290	T	0.61476	0.2350	N	0.08118	0	0.09310	N	1	P;B;B	0.34662	0.462;0.022;0.183	B;B;B	0.26310	0.064;0.007;0.068	T	0.56974	-0.7890	10	0.59425	D	0.04	-0.2503	2.6013	0.04867	0.2677:0.0:0.2743:0.458	.	380;400;418	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	400;418;380	ENSP00000298232:H400Y;ENSP00000355208:H418Y;ENSP00000344441:H380Y	ENSP00000298232:H400Y	H	-	1	0	TPTE	9938265	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.275000	0.08525	-0.239000	0.09710	-1.448000	0.01049	CAC	.		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10916394	G	A	10916394	3	1	62	1	0	0	0	0	1	0	0	0	16478	1377	48	3	423	3	TPTE	21	10916394	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10		10916394	37213501	1440	13808											
LIPI	149998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	15481359	15481359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggattaagaaacacttcCtctctgtctttaagtacaat	5	8	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:15481359C>T	ENST00000536861.1	-	10	1337	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Silent_p.E467E|AP001347.6_ENST00000428809.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	446					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAAACACTTCCTCTCTGTCTT	0.333																																					p.E467E		.											.	LIPI-70	0			c.G1401A						.						171	177	175					21																	15481359		2203	4299	6502	SO:0001819	synonymous_variant	149998	exon10			CACTTCCTCTCTG	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1338G>A	21.37:g.15481359C>T		Somatic	72	0		WXS	Illumina GAIIx	Phase_I	59	28	NM_198996	0	0	0	0	0	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37																																																																																				.		0.333	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		T	15481359	C	T	15481359	2	4	62	1	0	0	0	0	0	0	0	1	8855	680	24	3		3	LIPI	21	15481359	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4564965	15481359	32648536	1441	13809											
NRIP1	8204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	16337877	16337877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgattgtttgcagcAtcaacaatgttgtttttcat	8	7	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:16337877A>T	ENST00000400202.1	-	3	3349	c.2637T>A	c.(2635-2637)gaT>gaA	p.D879E	NRIP1_ENST00000318948.4_Missense_Mutation_p.D879E|NRIP1_ENST00000400199.1_Missense_Mutation_p.D879E|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	879	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGTTTGCAGCATCAACAATGT	0.358																																					p.D879E		.											.	NRIP1-186	0			c.T2637A						.						120	121	121					21																	16337877		2203	4299	6502	SO:0001583	missense	8204	exon4			TGCAGCATCAACA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2637T>A	21.37:g.16337877A>T	ENSP00000383063:p.Asp879Glu	Somatic	69	0		WXS	Illumina GAIIx	Phase_I	71	37	NM_003489	0	0	5	9	4	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	A	3.092	-0.186570	0.06340	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.87	-0.835	0.10775	.	0.275524	0.33144	N	0.005237	T	0.04137	0.0115	L	0.31664	0.95	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43845	-0.9366	10	0.10111	T	0.7	-9.9563	4.2357	0.10625	0.443:0.0:0.2518:0.3051	.	879	P48552	NRIP1_HUMAN	E	879	ENSP00000383060:D879E;ENSP00000383063:D879E;ENSP00000327213:D879E	ENSP00000327213:D879E	D	-	3	2	NRIP1	15259748	1.000000	0.71417	0.921000	0.36526	0.231000	0.25187	0.884000	0.28214	-0.055000	0.13244	-0.242000	0.12053	GAT	.		0.358	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		T	16337877	A	T	16337877	3	4	62	1	0	0	0	0	1	0	0	0	10691	214	8	5	843	5	NRIP1	21	16337877	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	856518	16337877	31792018	1442	13810											
ADAMTS1	9510	hgsc.bcm.edu	37	chr21	28217129	28217129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaggggcgcccgagtgCgtccgacacggccagtagcg	17	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:28217129C>T	ENST00000284984.3	-	1	599	c.145G>A	c.(145-147)Gca>Aca	p.A49T		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	49					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CGCCCGAGTGCGTCCGACACG	0.731											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A49T		.											.	ADAMTS1-272	0			c.G145A						.						5	6	6					21																	28217129		2098	4102	6200	SO:0001583	missense	9510	exon1			CGAGTGCGTCCGA	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.145G>A	21.37:g.28217129C>T	ENSP00000284984:p.Ala49Thr	Somatic	6	0	800	WXS	Illumina GAIIx	Phase_I	87	41	NM_006988	0	0	6	6	0	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545003	0.86022	.	.	ENSG00000154734	ENST00000284984	T	0.62105	0.05	4.27	2.46	0.29980	.	.	.	.	.	T	0.51398	0.1672	L	0.46157	1.445	0.19575	N	0.999968	B	0.15930	0.015	B	0.13407	0.009	T	0.35599	-0.9782	9	0.18276	T	0.48	.	9.9329	0.41534	0.0:0.839:0.0:0.161	.	49	Q9UHI8	ATS1_HUMAN	T	49	ENSP00000284984:A49T	ENSP00000284984:A49T	A	-	1	0	ADAMTS1	27139000	0.000000	0.05858	0.030000	0.17652	0.403000	0.30841	0.704000	0.25661	0.453000	0.26858	0.555000	0.69702	GCA	.		0.731	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28217129	C	T	28217129	3	4	62	1	0	0	0	0	1	0	0	0	255	768	27	1	2794	1	ADAMTS1	21	28217129	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	11879252	28217129	19912766	1443	13811											
TIAM1	7074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	32585718	32585718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtttatttttaccttgCcatctggaacaatgtcatca	5	10	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:32585718C>T	ENST00000286827.3	-	11	2684	c.2213G>A	c.(2212-2214)gGc>gAc	p.G738D	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	738					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTTACCTTGCCATCTGGAAC	0.353																																					p.G738D		.											.	TIAM1-724	0			c.G2213A						.						111	107	108					21																	32585718		2203	4300	6503	SO:0001583	missense	7074	exon11			ACCTTGCCATCTG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2213G>A	21.37:g.32585718C>T	ENSP00000286827:p.Gly738Asp	Somatic	71	0		WXS	Illumina GAIIx	Phase_I	78	36	NM_003253	0	0	0	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804883	0.31961	.	.	ENSG00000156299	ENST00000286827;ENST00000399841	T	0.22134	1.97	5.38	5.38	0.77491	.	0.180906	0.49916	D	0.000125	T	0.08846	0.0219	N	0.08118	0	0.80722	D	1	B;B	0.26318	0.146;0.02	B;B	0.19148	0.024;0.018	T	0.29971	-0.9994	10	0.12103	T	0.63	.	8.5185	0.33262	0.154:0.7702:0.0:0.0758	.	579;738	E9PD83;Q13009	.;TIAM1_HUMAN	D	738;579	ENSP00000286827:G738D	ENSP00000286827:G738D	G	-	2	0	TIAM1	31507589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.697000	0.47060	2.791000	0.96007	0.650000	0.86243	GGC	.		0.353	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32585718	C	T	32585718	3	4	62	1	0	0	0	0	1	0	0	0	15937	739	26	3	2638	3	TIAM1	21	32585718	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4368589	32585718	15544177	1444	13812											
SFRS15	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	33063193	33063193	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgtcccatggaataTaagtaacaccaagttctaca	6	9	1	1	rs546557932		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:33063193T>A	ENST00000286835.7	-	15	2184	c.1802A>T	c.(1801-1803)tAt>tTt	p.Y601F	SCAF4_ENST00000434667.3_Missense_Mutation_p.Y586F|SCAF4_ENST00000399804.1_Missense_Mutation_p.Y601F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	601						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCATGGAATATAAGTAACACC	0.378																																					p.Y601F		.											.	SCAF4-90	0			c.A1802T						.						198	191	193					21																	33063193		2203	4300	6503	SO:0001583	missense	57466	exon15			GGAATATAAGTAA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1802A>T	21.37:g.33063193T>A	ENSP00000286835:p.Tyr601Phe	Somatic	158	0		WXS	Illumina GAIIx	Phase_I	170	65	NM_020706	0	0	14	20	6	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648768	0.67358	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.57107	0.42;0.42;0.51	5.87	4.71	0.59529	.	0.000000	0.64402	D	0.000016	T	0.50684	0.1630	M	0.67397	2.05	0.54753	D	0.999983	B;B;B;B	0.29188	0.012;0.236;0.021;0.012	B;B;B;B	0.25884	0.012;0.064;0.027;0.012	T	0.51748	-0.8666	10	0.66056	D	0.02	-7.4917	12.4921	0.55905	0.1252:0.0:0.0:0.8747	.	586;601;601;601	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	F	586;601;601	ENSP00000402377:Y586F;ENSP00000286835:Y601F;ENSP00000382703:Y601F	ENSP00000286835:Y601F	Y	-	2	0	SCAF4	31985064	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.281000	0.72632	1.027000	0.39758	0.533000	0.62120	TAT	.		0.378	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33063193	T	A	33063193	3	1	62	1	0	0	0	0	1	0	0	0	14216	1406	49	5	1665	5	SFRS15	21	33063193	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	477475	33063193	15066702	1445	13813											
SFRS15	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	33068463	33068463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgttgtattcccatcattCgtggctgaaactgatccata	7	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:33068463C>T	ENST00000286835.7	-	9	1413	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.R329Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.R344Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	344						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCATCATTCGTGGCTGAAA	0.408																																					p.R344Q		.											.	SCAF4-90	0			c.G1031A						.						275	258	264					21																	33068463		2203	4300	6503	SO:0001583	missense	57466	exon9			ATCATTCGTGGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1031G>A	21.37:g.33068463C>T	ENSP00000286835:p.Arg344Gln	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	135	48	NM_020706	0	0	7	17	10	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186272	0.57909	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42900	0.97;0.97;0.96	5.71	4.82	0.62117	.	0.278601	0.30869	N	0.008719	T	0.22781	0.0550	N	0.25144	0.715	0.30250	N	0.794203	B;B;B;B	0.28971	0.147;0.029;0.229;0.147	B;B;B;B	0.18263	0.009;0.006;0.021;0.009	T	0.16689	-1.0394	10	0.06625	T	0.88	-7.0006	10.4177	0.44331	0.0:0.795:0.1354:0.0696	.	329;344;344;344	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	329;344;344	ENSP00000402377:R329Q;ENSP00000286835:R344Q;ENSP00000382703:R344Q	ENSP00000286835:R344Q	R	-	2	0	SCAF4	31990334	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.943000	0.49026	1.528000	0.49103	0.650000	0.86243	CGA	.		0.408	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		T	33068463	C	T	33068463	3	4	62	1	0	0	0	0	1	0	0	0	14216	884	31	1	2460	1	SFRS15	21	33068463	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	5270	33068463	15061432	1446	13814											
SON	6651	ucsc.edu;bcgsc.ca	37	chr21	34922970	34922970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacctgtgatggcacaggAgttgccagggctgcctttgg	15	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:34922970A>G	ENST00000356577.4	+	3	1908	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G	SON_ENST00000300278.4_Missense_Mutation_p.E478G|SON_ENST00000290239.6_Missense_Mutation_p.E478G|SON_ENST00000381679.4_Missense_Mutation_p.E478G|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	478					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						ATGGCACAGGAGTTGCCAGGG	0.582																																					p.E478G		.											.	SON-97	0			c.A1433G						.						74	75	75					21																	34922970		2203	4300	6503	SO:0001583	missense	6651	exon3			CACAGGAGTTGCC	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.1433A>G	21.37:g.34922970A>G	ENSP00000348984:p.Glu478Gly	Somatic	495	5		WXS	Illumina GAIIx	Phase_I	552	230	NM_032195	0	0	20	39	19	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363475	0.41902	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.20332	2.24;2.21;2.21;2.08	4.78	4.78	0.61160	.	0.303339	0.26109	N	0.026288	T	0.17450	0.0419	L	0.32530	0.975	0.26539	N	0.974123	P;P;P	0.49862	0.929;0.798;0.798	B;B;B	0.42343	0.214;0.384;0.384	T	0.10965	-1.0607	10	0.66056	D	0.02	.	10.8547	0.46792	1.0:0.0:0.0:0.0	.	478;478;478	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	G	478	ENSP00000348984:E478G;ENSP00000290239:E478G;ENSP00000300278:E478G;ENSP00000371095:E478G	ENSP00000290239:E478G	E	+	2	0	SON	33844840	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.847000	0.39299	2.128000	0.65567	0.402000	0.26972	GAG	.		0.582	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34922970	A	G	34922970	3	3	62	1	0	0	0	0	1	0	0	0	14971	304	11	4	1443	4	SON	21	34922970	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	1854507	34922970	13206925	1447	13815											
ITSN1	6453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	35166743	35166743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaacgaaagatcatagaAttagaaaaacaaaaagaaga	7	4	1	6			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:35166743A>G	ENST00000381318.3	+	17	2211	c.1923A>G	c.(1921-1923)gaA>gaG	p.E641E	ITSN1_ENST00000437442.2_Silent_p.E641E|ITSN1_ENST00000399353.1_Silent_p.E604E|ITSN1_ENST00000381285.4_Silent_p.E641E|ITSN1_ENST00000399352.1_Silent_p.E641E|ITSN1_ENST00000399326.3_Silent_p.E641E|ITSN1_ENST00000399349.1_Silent_p.E641E|ITSN1_ENST00000399367.3_Silent_p.E641E|ITSN1_ENST00000379960.5_Silent_p.E641E|ITSN1_ENST00000381291.4_Silent_p.E641E|ITSN1_ENST00000399355.2_Silent_p.E641E|ITSN1_ENST00000399338.4_Silent_p.E641E|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	641	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATCATAGAATTAGAAAAAC	0.383																																					p.E641E		.											.	ITSN1-94	0			c.A1923G						.						77	82	80					21																	35166743		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon17			CATAGAATTAGAA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1923A>G	21.37:g.35166743A>G		Somatic	154	0		WXS	Illumina GAIIx	Phase_I	220	111	NM_001001132	0	0	11	14	3	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		G	35166743	A	G	35166743	2	3	62	1	0	0	0	0	0	0	0	1	7953	98	4	4		4	ITSN1	21	35166743	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	243773	35166743	12963152	1448	13816											
UMODL1	89766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	43510406	43510406	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgctctccttccctgtAgatgtcaatgagtgtttcta	8	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43510406A>T	ENST00000408910.2	+	6	790		c.e6-1		UMODL1_ENST00000400424.2_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000400427.1_Splice_Site	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTTCCCTGTAGATGTCAATG	0.557																																					.	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	0			c.575-2A>T						.						117	118	117					21																	43510406		2165	4262	6427	SO:0001630	splice_region_variant	89766	exon6			CCCTGTAGATGTC		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.791-1A>T	21.37:g.43510406A>T		Somatic	144	0		WXS	Illumina GAIIx	Phase_I	162	81	NM_001199527	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Splice_Site	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	8.314	0.822692	0.16678	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417;ENST00000423139	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.671	0.40013	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UMODL1	42383475	0.995000	0.38212	0.324000	0.25361	0.156000	0.22039	4.324000	0.59228	1.707000	0.51288	0.260000	0.18958	.	.		0.557	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		Intron	T	43510406	A	T	43510406	5	4	62	1	0	0	0	0	0	0	1	0	17029	434	15	5	811	5	UMODL1	21	43510406	Splice_Site	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	8343663	43510406	4619489	1449	13817											
UMODL1	89766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	43531012	43531012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggtgagccccatgggCggtggactgtctgcggcaac	16	12	1	1	rs553173917		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43531012C>T	ENST00000408910.2	+	11	1680	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	UMODL1_ENST00000400424.2_Silent_p.G488G|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Silent_p.G560G|UMODL1_ENST00000400427.1_Silent_p.G488G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	560					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCCCATGGGCGGTGGACTGT	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		15285	0		0	False		,,,				2504	0				p.G560G	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	0			c.C1680T						.						24	30	28					21																	43531012		2071	4208	6279	SO:0001819	synonymous_variant	89766	exon11			CATGGGCGGTGGA		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.1680C>T	21.37:g.43531012C>T		Somatic	241	0		WXS	Illumina GAIIx	Phase_I	293	145	NM_173568	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			.		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43531012	C	T	43531012	2	4	62	1	0	0	0	0	0	0	0	1	17029	755	27	1		1	UMODL1	21	43531012	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	20606	43531012	4598883	1450	13818											
UBASH3A	53347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	43864737	43864737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaatgtggggattttgCccaactcgtgagaaaggtac	14	8	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43864737C>T	ENST00000319294.6	+	14	1863	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A573V|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	611	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						GGGGATTTTGCCCAACTCGTG	0.567																																					p.A611V		.											.	UBASH3A-93	0			c.C1832T						.						80	85	84					21																	43864737		2203	4300	6503	SO:0001583	missense	53347	exon14			ATTTTGCCCAACT	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.1832C>T	21.37:g.43864737C>T	ENSP00000317327:p.Ala611Val	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	86	39	NM_018961	0	0	0	2	2	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153744	0.01700	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.07216	3.21;3.21	4.92	4.04	0.47022	.	0.109437	0.40728	N	0.001033	T	0.02970	0.0088	N	0.02721	-0.515	0.80722	D	1	B;B	0.21147	0.028;0.052	B;B	0.11329	0.006;0.002	T	0.37776	-0.9691	10	0.07644	T	0.81	-22.6586	9.0985	0.36653	0.0:0.8986:0.0:0.1014	.	573;611	P57075-2;P57075	.;UBS3A_HUMAN	V	573;611	ENSP00000291535:A573V;ENSP00000317327:A611V	ENSP00000291535:A573V	A	+	2	0	UBASH3A	42737806	1.000000	0.71417	0.965000	0.40720	0.102000	0.19082	1.089000	0.30890	1.077000	0.40990	0.551000	0.68910	GCC	.		0.567	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		T	43864737	C	T	43864737	3	4	62	1	0	0	0	0	1	0	0	0	16888	739	26	3	1886	3	UBASH3A	21	43864737	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	333725	43864737	4265158	1451	13819											
DNMT3L	29947	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	45666373	45666373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttggtgggccacttggcCgcgagcttcgagctctgctt	14	12	1	0	rs145238695	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45666373C>T	ENST00000418993.1	-	12	1551	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	DNMT3L_ENST00000270172.3_Silent_p.A357A	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCCACTTGGCCGCGAGCTTCG	0.507																																					p.A357A		.											.	DNMT3L-228	0			c.G1071A						.	C	,	0,4406		0,0,2203	50	51	51		1071,1068	-3.9	0	21	dbSNP_134	51	14,8584	9.8+/-36.6	0,14,4285	no	coding-synonymous,coding-synonymous	DNMT3L	NM_013369.2,NM_175867.1	,	0,14,6488	TT,TC,CC		0.1628,0.0,0.1077	,	357/388,356/387	45666373	14,12990	2203	4299	6502	SO:0001819	synonymous_variant	29947	exon12			CTTGGCCGCGAGC	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1068G>A	21.37:g.45666373C>T		Somatic	107	2		WXS	Illumina GAIIx	Phase_I	133	67	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Silent	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	4.697	0.129624	0.08981	0.0	0.001628	ENSG00000142182	ENST00000436357	.	.	.	4.17	-3.86	0.04230	.	.	.	.	.	T	0.27419	0.0673	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33137	-0.9880	4	.	.	.	-1.353	6.4551	0.21926	0.6391:0.1568:0.2041:0.0	.	.	.	.	Q	151	.	.	R	-	2	0	DNMT3L	44490801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.701000	0.01903	-0.665000	0.05317	-0.147000	0.13772	CGG	C|0.998;T|0.002		0.507	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		T	45666373	C	T	45666373	2	4	62	1	0	0	0	0	0	0	0	1	4692	639	23	1		1	DNMT3L	21	45666373	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1801636	45666373	2463522	1452	13820											
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	45744513	45744513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcctacgtcttcgaggAccctttcaacatccacgact	7	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45744513A>G	ENST00000349048.4	+	17	1845	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	PFKL_ENST00000403390.1_Missense_Mutation_p.D644G	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	597	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)		GTCTTCGAGGACCCTTTCAAC	0.657																																					p.D597G		.											.	PFKL-251	0			c.A1790G						.						67	64	65					21																	45744513		2202	4300	6502	SO:0001583	missense	5211	exon17			TCGAGGACCCTTT		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.1790A>G	21.37:g.45744513A>G	ENSP00000269848:p.Asp597Gly	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	124	53	NM_002626	0	0	112	184	72	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211101	0.58343	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80304	-1.36;-1.36	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.060853	0.64402	D	0.000003	D	0.85283	0.5661	M	0.70595	2.14	0.80722	D	1	P;P	0.41131	0.464;0.739	B;P	0.52386	0.262;0.697	D	0.86776	0.1976	10	0.87932	D	0	-55.3816	12.1046	0.53805	1.0:0.0:0.0:0.0	.	597;644	P17858;P17858-2	K6PL_HUMAN;.	G	597;390;644	ENSP00000269848:D597G;ENSP00000384038:D644G	ENSP00000269848:D597G	D	+	2	0	PFKL	44568941	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	8.826000	0.92034	1.511000	0.48818	0.383000	0.25322	GAC	.		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			G	45744513	A	G	45744513	3	3	62	1	0	0	0	0	1	0	0	0	11803	275	10	4	1856	4	PFKL	21	45744513	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	78140	45744513	2385382	1453	13821											
KRTAP10-2	386679	hgsc.bcm.edu;ucsc.edu	37	chr21	45970771	45970772	+	Missense_Mutation	DNP	CA	CA	TG													gcagatggacttgcagcagaCaggcttgcagcagacggaca					rs76021731|rs200215960|rs67692969|rs71199610	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45970771_45970772CA>TG	ENST00000391621.1	-	1	616_617	c.570_571TG>CA	c.(568-573)ccTGtc>ccCAtc	p.V191I	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	191	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TTGCAGCAGACAGGCTTGCAGC	0.609																																					p.V191I		.											.	KRTAP10-2-135	0			c.T570C						.																																			SO:0001583	missense	386679	exon1			GCAGACAGGCTTG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570_571delinsTG	21.37:g.45970771_45970772delinsTG	ENSP00000375479:p.Val191Ile	Somatic	218	0		WXS	Illumina GAIIx	Phase_I	211	0	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	DNP	ENST00000391621.1	37	CCDS42955.1																																																																																			A|0.908;G|0.092		0.609	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			TG	45970772	CA	TG	45970771	3	4	62	1	0	0	0	0	1	0	0	0	8536	478	17	3	200	3	KRTAP10-2	21	45970771	Missense_Mutation	DNP	CA	TCGA-PK-A5HB-01A-11D-A29I-10	226258	45970771	2159124	1454	13822	133	2									
KRTAP10-2	386679	hgsc.bcm.edu;ucsc.edu	37	chr21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A													gatggacttgcagcagacagGcttgcagcagacggacacac					rs76536096|rs67692969|rs71199610	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																					p.P190S		.											.	KRTAP10-2-135	0			c.C568T						.						110	112	111					21																	45970774		2192	4279	6471	SO:0001583	missense	386679	exon1			AGACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	Somatic	214	0		WXS	Illumina GAIIx	Phase_I	210	32	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT	G|0.917;A|0.083		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			A	45970774	G	A	45970774	3	1	62	1	0	0	0	0	1	0	0	0	8536	1203	42	3	203	3	KRTAP10-2	21	45970774	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	3	45970774	2159121	1455	13823	133	2									
KRTAP10-2	386679	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	45971060	45971060	+	Frame_Shift_Del	DEL	G	G	-													acgcagcaggcctgctggcaGggggaggaggtgcagcaagc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45971060delG	ENST00000391621.1	-	1	328	c.282delC	c.(280-282)cccfs	p.P94fs	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	94	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CCTGCTGGCAGGGGGAGGAGG	0.672																																					p.P94fs		.											.	KRTAP10-2-135	0			c.282delC						.						67	71	69					21																	45971060		2200	4296	6496	SO:0001589	frameshift_variant	386679	exon1			CTGGCAGGGGGAG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.282delC	21.37:g.45971060delG	ENSP00000375479:p.Pro94fs	Somatic	112	0		WXS	Illumina GAIIx	Phase_I	268	86	NM_198693	0	0	0	0	0	Q70LJ5	Frame_Shift_Del	DEL	ENST00000391621.1	37	CCDS42955.1																																																																																			.		0.672	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			-	45971060	G	-	45971060	7	5	62	1	0	1	0	1	0	0	0	0	8536	987	35	0	489	0	KRTAP10-2	21	45971060	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	286	45971060	2158835	1456	13824											
KRTAP10-4	386672	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	45994477	45994477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaagcctgtgtgctGcaagcctgtcggctctgtgc	13	13	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45994477G>A	ENST00000400374.3	+	1	872	c.842G>A	c.(841-843)tGc>tAc	p.C281Y	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	281	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTGTGTGCTGCAAGCCTGTC	0.627																																					p.C281Y		.											.	KRTAP10-4-90	0			c.G842A						.						107	112	110					21																	45994477		2203	4300	6503	SO:0001583	missense	386672	exon1			TGTGCTGCAAGCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.842G>A	21.37:g.45994477G>A	ENSP00000383225:p.Cys281Tyr	Somatic	186	1		WXS	Illumina GAIIx	Phase_I	226	103	NM_198687	0	0	0	0	0	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	g	4.701	0.130349	0.08981	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.02472	4.28	3.73	2.83	0.33086	.	.	.	.	.	T	0.08582	0.0213	M	0.86651	2.83	0.29317	N	0.867589	P	0.50369	0.934	P	0.47864	0.559	T	0.07809	-1.0753	9	0.72032	D	0.01	.	6.5354	0.22350	0.0:0.2197:0.5841:0.1962	.	281	P60372	KR104_HUMAN	Y	281;109	ENSP00000383225:C281Y	ENSP00000333987:C109Y	C	+	2	0	KRTAP10-4	44818905	0.354000	0.24912	0.073000	0.20177	0.213000	0.24496	1.071000	0.30666	0.658000	0.30925	0.603000	0.83216	TGC	.		0.627	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		A	45994477	G	A	45994477	3	1	62	1	0	0	0	0	1	0	0	0	8538	1319	46	3	844	3	KRTAP10-4	21	45994477	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	23417	45994477	2135418	1457	13825											
KRTAP10-7	386675	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	46020976	46020976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagtcagcttgctgcaCctcctccccctgccagcagg	9	19	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46020976C>T	ENST00000380102.2	+	1	480	c.455C>T	c.(454-456)aCc>aTc	p.T152I	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	152	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTTGCTGCACCTCCTCCCCC	0.592																																					p.T147I		.											.	.	0			c.C440T						.						64	69	68					21																	46020976		2193	4290	6483	SO:0001583	missense	386675	exon2			GCTGCACCTCCTC	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.455C>T	21.37:g.46020976C>T	ENSP00000369445:p.Thr152Ile	Somatic	428	1		WXS	Illumina GAIIx	Phase_I	439	170	NM_198689	0	0	0	0	0	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	0.867	-0.733395	0.03111	.	.	ENSG00000205441	ENST00000380102	T	0.01388	4.95	2.74	-0.798	0.10905	.	.	.	.	.	T	0.01523	0.0049	L	0.55481	1.735	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.47886	-0.9082	9	0.37606	T	0.19	.	0.862	0.01195	0.1794:0.3833:0.1775:0.2598	.	147	P60409-2	.	I	152	ENSP00000369445:T152I	ENSP00000369445:T152I	T	+	2	0	KRTAP10-7	44845404	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.513000	0.06305	-0.163000	0.10946	0.454000	0.30748	ACC	.		0.592	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		T	46020976	C	T	46020976	3	4	62	1	0	0	0	0	1	0	0	0	8541	507	18	3	446	3	KRTAP10-7	21	46020976	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	26499	46020976	2108919	1458	13826											
KRTAP10-9	386676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	46047555	46047555	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgctgtgcgcccacctgctCtgaggattcctattcatgct	10	13	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46047555C>T	ENST00000397911.3	+	1	516	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	156	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCCACCTGCTCTGAGGATTCC	0.602																																					p.S156F		.											.	.	0			c.C467T						.						194	204	200					21																	46047555		2203	4300	6503	SO:0001583	missense	386676	exon1			CCTGCTCTGAGGA	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.467C>T	21.37:g.46047555C>T	ENSP00000381009:p.Ser156Phe	Somatic	321	2		WXS	Illumina GAIIx	Phase_I	341	165	NM_198690	0	0	0	0	0	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	2.879	-0.232158	0.05983	.	.	ENSG00000221837	ENST00000397911	T	0.01516	4.81	2.68	-1.48	0.08745	.	.	.	.	.	T	0.02455	0.0075	M	0.77820	2.39	0.09310	N	1	B	0.33266	0.404	B	0.23852	0.049	T	0.32534	-0.9903	8	.	.	.	.	6.9131	0.24346	0.1783:0.3006:0.521:0.0	.	156	P60411	KR109_HUMAN	F	156	ENSP00000381009:S156F	.	S	+	2	0	KRTAP10-9	44871983	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	-0.005000	0.12855	-0.147000	0.11254	0.543000	0.68304	TCT	.		0.602	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			T	46047555	C	T	46047555	3	4	62	1	0	0	0	0	1	0	0	0	8543	913	32	3	469	3	KRTAP10-9	21	46047555	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	26579	46047555	2082340	1459	13827											
POFUT2	23275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	46689778	46689778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgacggcatctgtggccaCaaacaccttgtccagccggt	10	14	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46689778C>A	ENST00000349485.5	-	7	1014	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.V330L	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	330					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCTGTGGCCACAAACACCTTG	0.458																																					p.V330L		.											.	POFUT2-90	0			c.G988T						.						83	77	79					21																	46689778		2203	4300	6503	SO:0001583	missense	23275	exon7			TGGCCACAAACAC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.988G>T	21.37:g.46689778C>A	ENSP00000339613:p.Val330Leu	Somatic	95	0		WXS	Illumina GAIIx	Phase_I	97	35	NM_015227	0	0	26	54	28	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.656182|1.656182	0.29425|0.29425	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.32023	.|1.47;1.47	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|0.180614	.|0.47093	.|D	.|0.000260	T|T	0.21307|0.21307	0.0513|0.0513	L|L	0.28504|0.28504	0.86|0.86	0.52099|0.52099	D|D	0.999949|0.999949	.|B;B	.|0.24043	.|0.096;0.014	.|B;B	.|0.24006	.|0.05;0.019	T|T	0.03887|0.03887	-1.0995|-1.0995	5|10	.|0.08381	.|T	.|0.77	-10.5471|-10.5471	14.743|14.743	0.69469|0.69469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|330;330	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	F|L	252|330	.|ENSP00000329682:V330L;ENSP00000339613:V330L	.|ENSP00000329682:V330L	C|V	-|-	2|1	0|0	POFUT2|POFUT2	45514206|45514206	0.960000|0.960000	0.32886|0.32886	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	1.233000|1.233000	0.32648|0.32648	2.144000|2.144000	0.66660|0.66660	0.655000|0.655000	0.94253|0.94253	TGT|GTG	.		0.458	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		A	46689778	C	A	46689778	3	1	62	1	0	0	0	0	1	0	0	0	12223	478	17	3	452	3	POFUT2	21	46689778	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	642223	46689778	1440117	1460	13828											
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	46917558	46917559	+	Frame_Shift_Ins	INS	-	-	C													ggcgccaaaggagaagtgggINScccccccggaccaccaggtg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46917558_46917559insC	ENST00000359759.4	+	31	3932_3933	c.3911_3912insC	c.(3910-3915)ggccccfs	p.GP1304fs	COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.GP1069fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.GP889fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1304	Triple-helical region 7 (COL7).				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)	p.G1069A(1)		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)		GGAGAAGTGGGCCCCCCCGGAC	0.639																																					p.G1069fs		.											.	COL18A1-90	1	Substitution - Missense(1)	endometrium(1)	c.3206_3207insC						.																																			SO:0001589	frameshift_variant	80781	exon31			AAGTGGGCCCCCC		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.3918dupC	21.37:g.46917565_46917565dupC	ENSP00000352798:p.Gly1304fs	Somatic	82	0		WXS	Illumina GAIIx	Phase_I	113	37	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Ins	INS	ENST00000359759.4	37																																																																																				.		0.639	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			C	46917559	-	C	46917558	7	5	62	1	0	1	1	0	0	0	0	0	3682	1203	42	0	4147	0	COL18A1	21	46917558	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	227780	46917558	1212337	1461	13829											
PCBP3	54039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	47321002	47321002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcttcaaggcctttgCcatgatcgcatacaagtttg	8	12	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47321002C>T	ENST00000400314.1	+	7	652	c.314C>T	c.(313-315)gCc>gTc	p.A105V	PCBP3_ENST00000449640.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400309.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400310.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400304.1_Missense_Mutation_p.A73V|PCBP3_ENST00000400308.1_Missense_Mutation_p.A105V			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	105					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGCCTTTGCCATGATCGCA	0.592																																					p.A105V		.											.	PCBP3-227	0			c.C314T						.						118	128	125					21																	47321002		2035	4174	6209	SO:0001583	missense	54039	exon5			CCTTTGCCATGAT	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.314C>T	21.37:g.47321002C>T	ENSP00000383168:p.Ala105Val	Somatic	60	0		WXS	Illumina GAIIx	Phase_I	75	28	NM_001130141	0	0	1	3	2	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530863	0.85706	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.86	4.86	0.63082	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.54908	1.71	0.80722	D	1	B;B;P;P;B;D;B	0.53462	0.14;0.115;0.928;0.951;0.06;0.96;0.066	B;B;P;P;B;P;B	0.54664	0.156;0.038;0.68;0.712;0.038;0.758;0.026	T	0.45600	-0.9250	10	0.62326	D	0.03	-15.7444	18.3744	0.90431	0.0:1.0:0.0:0.0	.	73;105;73;105;105;105;105	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	V	105;105;105;105;105;105;81;73	ENSP00000383168:A105V;ENSP00000383165:A105V;ENSP00000383164:A105V;ENSP00000383163:A105V;ENSP00000401198:A105V;ENSP00000383160:A81V;ENSP00000383159:A73V	ENSP00000330225:A105V	A	+	2	0	PCBP3	46145430	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.379000	0.79691	2.444000	0.82710	0.655000	0.94253	GCC	.		0.592	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			T	47321002	C	T	47321002	3	4	62	1	0	0	0	0	1	0	0	0	11541	739	26	3	332	3	PCBP3	21	47321002	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	403444	47321002	808893	1462	13830											
PCNT	5116	hgsc.bcm.edu	37	chr21	47836750	47836750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatgtgcagaggacggcTgtggtaggtgcctgctctgc	15	11	1	1	rs61738290	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47836750T>C	ENST00000359568.5	+	30	7025	c.6918T>C	c.(6916-6918)gcT>gcC	p.A2306A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2306					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)					AGAGGACGGCTGTGGTAGGTG	0.667													T|||	114	0.0227636	0.0189	0.0418	5008	,	,		15424	0		0.0408	False		,,,				2504	0.0194				p.A2306A		.											.	PCNT-141	0			c.T6918C						.	T		72,3720		0,72,1824	20	22	21		6918	-1	0.3	21	dbSNP_129	21	338,7058		7,324,3367	no	coding-synonymous	PCNT	NM_006031.5		7,396,5191	CC,CT,TT		4.57,1.8987,3.6646		2306/3337	47836750	410,10778	1896	3698	5594	SO:0001819	synonymous_variant	5116	exon30			GACGGCTGTGGTA	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.6918T>C	21.37:g.47836750T>C		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	17	7	NM_006031	0	0	0	0	0	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			T|0.969;C|0.031		0.667	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47836750	T	C	47836750	2	2	62	1	0	0	0	0	0	0	0	1	11629	1567	55	4		4	PCNT	21	47836750	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	515748	47836750	293145	1463	13831											
PCNT	5116	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	47858133	47858133	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcctgctgaaagacaaTgtttccctcacaaaagcgct	8	12	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47858133T>C	ENST00000359568.5	+	41	9263	c.9156T>C	c.(9154-9156)aaT>aaC	p.N3052N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3052	Interaction with NEK2.				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)					TGAAAGACAATGTTTCCCTCA	0.458																																					p.N3052N		.											.	PCNT-141	0			c.T9156C						.						62	58	59					21																	47858133		2203	4300	6503	SO:0001819	synonymous_variant	5116	exon41			AGACAATGTTTCC	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.9156T>C	21.37:g.47858133T>C		Somatic	220	1		WXS	Illumina GAIIx	Phase_I	292	112	NM_006031	0	0	8	30	22	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	0.246	-1.009737	0.02095	.	.	ENSG00000160299	ENST00000418394	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.64735	0.2625	.	.	.	0.47511	D	0.999447	.	.	.	.	.	.	T	0.77151	-0.2693	4	.	.	.	.	19.5563	0.95349	0.0:0.7248:0.0:0.2752	.	.	.	.	T	33	.	.	M	+	2	0	PCNT	46682561	0.000000	0.05858	0.002000	0.10522	0.126000	0.20510	-2.794000	0.00765	-2.500000	0.00511	-1.151000	0.01829	ATG	.		0.458	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47858133	T	C	47858133	2	2	62	1	0	0	0	0	0	0	0	1	11629	1461	51	4		4	PCNT	21	47858133	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	21383	47858133	271762	1464	13832											
CCT8L2	150160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	17073304	17073304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatagcaaggccggatgAcactggccagggtctggact	15	11	1	1	rs140831516		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17073304A>G	ENST00000359963.3	-	1	396	c.137T>C	c.(136-138)gTc>gCc	p.V46A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	46					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)				AGGCCGGATGACACTGGCCAG	0.642																																					p.V46A		.											.	CCT8L2-69	0			c.T137C						.						65	68	67					22																	17073304		2203	4300	6503	SO:0001583	missense	150160	exon1			CGGATGACACTGG	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.137T>C	22.37:g.17073304A>G	ENSP00000353048:p.Val46Ala	Somatic	61	0		WXS	Illumina GAIIx	Phase_I	80	30	NM_014406	0	0	0	0	0	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	14.71	2.615412	0.46631	.	.	ENSG00000198445	ENST00000359963	T	0.77098	-1.07	2.0	2.0	0.26442	.	0.868158	0.09444	U	0.801420	T	0.70413	0.3221	L	0.53249	1.67	0.09310	N	1	B	0.20164	0.042	B	0.24006	0.05	T	0.57148	-0.7861	10	0.30854	T	0.27	-12.4296	5.9541	0.19263	1.0:0.0:0.0:0.0	.	46	Q96SF2	TCPQM_HUMAN	A	46	ENSP00000353048:V46A	ENSP00000353048:V46A	V	-	2	0	CCT8L2	15453304	0.811000	0.29063	0.278000	0.24718	0.851000	0.48451	1.725000	0.38074	0.930000	0.37217	0.324000	0.21423	GTC	A|1.000;T|0.000		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			G	17073304	A	G	17073304	3	3	62	1	0	0	0	0	1	0	0	0	2968	275	10	4	1540	4	CCT8L2	22	17073304	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10		17073304	34231262	1465	13833											
GAB4	128954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	17472963	17472963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagaggttcaggttgatgGtgcgcaggggcttcttggag	17	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17472963G>T	ENST00000400588.1	-	2	385	c.278C>A	c.(277-279)aCc>aAc	p.T93N	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGGTTGATGGTGCGCAGGGG	0.493																																					p.T93N		.											.	GAB4-91	0			c.C278A						.						215	226	222					22																	17472963		2195	4300	6495	SO:0001583	missense	128954	exon2			TTGATGGTGCGCA	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.278C>A	22.37:g.17472963G>T	ENSP00000383431:p.Thr93Asn	Somatic	169	0		WXS	Illumina GAIIx	Phase_I	186	80	NM_001037814	0	0	0	0	0		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042383	0.19748	.	.	ENSG00000215568	ENST00000400588	T	0.75938	-0.98	1.81	0.736	0.18307	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.238534	0.33631	U	0.004709	T	0.64338	0.2589	L	0.49126	1.545	0.27993	N	0.935605	P	0.49559	0.925	B	0.43680	0.427	T	0.60378	-0.7275	10	0.62326	D	0.03	.	4.7231	0.12927	0.7985:0.0:0.2015:0.0	.	93	Q2WGN9	GAB4_HUMAN	N	93	ENSP00000383431:T93N	ENSP00000383431:T93N	T	-	2	0	GAB4	15852963	1.000000	0.71417	0.966000	0.40874	0.022000	0.10575	6.465000	0.73538	0.160000	0.19432	-0.469000	0.05056	ACC	.		0.493	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17472963	G	T	17472963	3	4	62	1	0	0	0	0	1	0	0	0	6175	1261	44	3	1482	3	GAB4	22	17472963	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	399659	17472963	33831603	1466	13834											
IL17RA	23765	hgsc.bcm.edu	37	chr22	17590180	17590180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctggctgacggtgccGcagtccggctggcactggcg	17	15	0	1	rs41323645	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17590180G>A	ENST00000319363.6	+	13	2204	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	691					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGACGGTGCCGCAGTCCGGCT	0.766													G|||	570	0.113818	0.2352	0.0778	5008	,	,		11920	0		0.1064	False		,,,				2504	0.1002				p.A691T		.											.	IL17RA-92	0			c.G2071A						.	G	THR/ALA	684,3102		61,562,1270	3	4	4		2071	3.6	0	22	dbSNP_127	4	730,6516		42,646,2935	no	missense	IL17RA	NM_014339.5	58	103,1208,4205	AA,AG,GG		10.0745,18.0666,12.8173	probably-damaging	691/867	17590180	1414,9618	1893	3623	5516	SO:0001583	missense	23765	exon13			GGTGCCGCAGTCC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2071G>A	22.37:g.17590180G>A	ENSP00000320936:p.Ala691Thr	Somatic	0	0		WXS	Illumina GAIIx	Phase_I	11	8	NM_014339	0	0	1	2	1	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	225	0.10302197802197802	106	0.21544715447154472	39	0.10773480662983426	0	0.0	80	0.10554089709762533	G	17.37	3.372199	0.61624	0.180666	0.100745	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06687	3.27	4.6	3.56	0.40772	.	0.358898	0.24384	N	0.038991	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	D;D	0.89917	0.996;1.0	P;D	0.64506	0.715;0.926	T	0.14952	-1.0454	9	0.36615	T	0.2	-30.1852	7.7218	0.28736	0.099:0.223:0.678:0.0	rs41323645;rs58353000	639;691	D3YTB4;Q96F46	.;I17RA_HUMAN	T	639;691	ENSP00000320936:A691T	ENSP00000320936:A691T	A	+	1	0	IL17RA	15970180	0.004000	0.15560	0.046000	0.18839	0.001000	0.01503	1.290000	0.33319	2.261000	0.74972	0.561000	0.74099	GCA	G|0.897;A|0.103		0.766	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17590180	G	A	17590180	3	1	62	1	0	0	0	0	1	0	0	0	7666	1087	38	1	2121	1	IL17RA	22	17590180	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	117217	17590180	33714386	1467	13835											
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18301894	18301894	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggtgggagttggggcCcctacagggaaggaagacag	19	7	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:18301894C>A	ENST00000441493.2	-	26	3885	c.3533G>T	c.(3532-3534)gGg>gTg	p.G1178V		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1178	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGTTGGGGCCCCTACAGGGA	0.597																																					p.G1178V		.											.	MICAL3-68	0			c.G3533T						.						13	15	14					22																	18301894		1932	4098	6030	SO:0001630	splice_region_variant	57553	exon26			TGGGGCCCCTACA	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.3532-1G>T	22.37:g.18301894C>A		Somatic	40	0		WXS	Illumina GAIIx	Phase_I	57	27	NM_015241	0	0	0	0	0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.644|6.644	0.487232|0.487232	0.12641|0.12641	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.61859	.|0.07	4.87|4.87	1.3|1.3	0.21679|0.21679	.|.	.|.	.|.	.|.	.|.	T|T	0.42517|0.42517	0.1206|0.1206	L|L	0.44542|0.44542	1.39|1.39	0.22017|0.22017	N|N	0.999417|0.999417	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.30995|0.30995	-0.9959|-0.9959	6|9	0.56958|0.38643	D|T	0.05|0.18	.|.	2.2962|2.2962	0.04151|0.04151	0.4172:0.2772:0.0:0.3056|0.4172:0.2772:0.0:0.3056	.|.	.|1178	.|Q7RTP6	.|MICA3_HUMAN	C|V	160|1178	.|ENSP00000416015:G1178V	ENSP00000252134:G160C|ENSP00000416015:G1178V	G|G	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681894|16681894	0.000000|0.000000	0.05858|0.05858	0.039000|0.039000	0.18376|0.18376	0.007000|0.007000	0.05969|0.05969	-0.844000|-0.844000	0.04345|0.04345	0.470000|0.470000	0.27294|0.27294	-0.217000|-0.217000	0.12591|0.12591	GGC|GGG	.		0.597	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Missense_Mutation	A	18301894	C	A	18301894	5	1	62	1	0	0	0	0	0	0	1	0	9609	637	22	3	2503	3	MICAL3	22	18301894	Splice_Site	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	711714	18301894	33002672	1468	13836											
TUBA8	51807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	18609562	18609562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccgctggtcacctacGcgcccatcatctctgccgag	8	18	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:18609562G>A	ENST00000330423.3	+	4	890	c.817G>A	c.(817-819)Gcg>Acg	p.A273T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A207T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	273					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGTCACCTACGCGCCCATCAT	0.587																																					p.A273T		.											.	TUBA8-90	0			c.G817A						.						103	84	91					22																	18609562		2203	4300	6503	SO:0001583	missense	51807	exon4			ACCTACGCGCCCA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.817G>A	22.37:g.18609562G>A	ENSP00000333326:p.Ala273Thr	Somatic	171	0		WXS	Illumina GAIIx	Phase_I	260	20	NM_018943	0	0	10	10	0	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643771	0.67244	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82984	-1.67;-1.67;-1.67	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.051608	0.85682	D	0.000000	D	0.90397	0.6994	M	0.92122	3.275	0.58432	D	0.999997	P;P;B	0.51933	0.88;0.949;0.295	B;P;B	0.48795	0.385;0.59;0.118	D	0.92314	0.5860	10	0.72032	D	0.01	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	207;297;273	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	207;273;297	ENSP00000318575:A207T;ENSP00000333326:A273T;ENSP00000412646:A297T	ENSP00000318575:A207T	A	+	1	0	TUBA8	16989562	1.000000	0.71417	0.823000	0.32752	0.995000	0.86356	7.894000	0.87336	2.837000	0.97791	0.655000	0.94253	GCG	.		0.587	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		A	18609562	G	A	18609562	3	1	62	1	0	0	0	0	1	0	0	0	16799	1087	38	1	831	1	TUBA8	22	18609562	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	307668	18609562	32695004	1469	13837											
CLTCL1	8218	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	19207427	19207427	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctcctggatgggttggtCtcctcaaggacgtgagccca	13	11	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:19207427C>T	ENST00000263200.10	-	18	2958	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	CLTCL1_ENST00000353891.5_Silent_p.E962E|CLTCL1_ENST00000427926.1_Silent_p.E962E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	962	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)					ATGGGTTGGTCTCCTCAAGGA	0.527			T	?	ALCL																																p.E962E		.		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1-230	0			c.G2886A						.						115	119	118					22																	19207427		2059	4199	6258	SO:0001819	synonymous_variant	8218	exon18			GTTGGTCTCCTCA		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.2886G>A	22.37:g.19207427C>T		Somatic	122	2		WXS	Illumina GAIIx	Phase_I	184	74	NM_001835	0	0	19	29	10	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																			.		0.527	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19207427	C	T	19207427	2	4	62	1	0	0	0	0	0	0	0	1	3574	912	32	3		3	CLTCL1	22	19207427	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	597865	19207427	32097139	1470	13838											
HIRA	7290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	19373067	19373067	+	Frame_Shift_Del	DEL	C	C	-													cctgatatcttcaagactctCcccgttgacaacgcctgcga							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:19373067delC	ENST00000263208.5	-	12	1562	c.1306delG	c.(1306-1308)gagfs	p.E436fs	HIRA_ENST00000340170.4_Frame_Shift_Del_p.E436fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.E392fs|HIRA_ENST00000541063.1_Frame_Shift_Del_p.E392fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	436	Interaction with ASF1A.|Interaction with CCNA1.				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)					TCAAGACTCTCCCCGTTGACA	0.602																																					p.E436fs		.											.	HIRA-91	0			c.1306delG						.						87	79	82					22																	19373067		2203	4300	6503	SO:0001589	frameshift_variant	7290	exon12			GACTCTCCCCGTT	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.1306delG	22.37:g.19373067delC	ENSP00000263208:p.Glu436fs	Somatic	123	0		WXS	Illumina GAIIx	Phase_I	146	60	NM_003325	0	0	0	0	0	Q05BU9|Q8IXN2	Frame_Shift_Del	DEL	ENST00000263208.5	37	CCDS13759.1																																																																																			.		0.602	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		-	19373067	C	-	19373067	7	5	62	1	0	1	0	1	0	0	0	0	7147	864	30	0	1803	0	HIRA	22	19373067	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	165640	19373067	31931499	1471	13839											
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780091	20780091	+	Silent	SNP	C	C	G													gtcgcctcctcgggcagcccCggggggcgcggcgttgggtc					rs759610		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4	5	4		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	13	13	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			G	20780091	C	G	20780091	2	3	62	1	0	0	0	0	0	0	0	1	13929	639	23	2		2	SCARF2	22	20780091	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1407024	20780091	30524475	1472	13840	134	2									
SCARF2	91179	hgsc.bcm.edu	37	chr22	20780097	20780097	+	Silent	SNP	G	G	C													tcctcgggcagccccgggggGcgcggcgttgggtcgcgggt					rs759609		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5	5	5		2181,2166	-5.3	0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		Somatic	0	0		WXS	Illumina GAIIx	Phase_I	14	14	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			C	20780097	G	C	20780097	2	2	62	1	0	0	0	0	0	0	0	1	13929	1190	42	3		3	SCARF2	22	20780097	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	6	20780097	30524469	1473	13841	134	2									
KLHL22	84861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	20812147	20812147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggtggcagggtcgtagCgctccacagcattcaggtca	14	10	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20812147C>T	ENST00000328879.4	-	5	1409	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R275H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	418					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGGTCGTAGCGCTCCACAGC	0.602																																					p.R418H		.											.	KLHL22-278	0			c.G1253A						.						97	69	79					22																	20812147		2203	4300	6503	SO:0001583	missense	84861	exon5			TCGTAGCGCTCCA		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1253G>A	22.37:g.20812147C>T	ENSP00000331682:p.Arg418His	Somatic	161	0		WXS	Illumina GAIIx	Phase_I	154	69	NM_032775	0	0	18	31	13	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944655	0.92593	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.81247	-1.47;-1.47	4.5	4.5	0.54988	Kelch-type beta propeller (1);	0.054034	0.64402	D	0.000003	D	0.89911	0.6852	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.973	D	0.91058	0.4883	10	0.56958	D	0.05	.	14.7479	0.69501	0.0:1.0:0.0:0.0	.	275;418	B7Z2G1;Q53GT1	.;KLH22_HUMAN	H	418;275	ENSP00000331682:R418H;ENSP00000405521:R275H	ENSP00000331682:R418H	R	-	2	0	KLHL22	19142147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.809000	0.69172	2.329000	0.79093	0.563000	0.77884	CGC	.		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		T	20812147	C	T	20812147	3	4	62	1	0	0	0	0	1	0	0	0	8404	768	27	1	663	1	KLHL22	22	20812147	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	32050	20812147	30492419	1474	13842											
PI4KA	5297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	21172828	21172828	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggagggggcatgccgcgttCagggctgacctgaaacacac	16	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21172828C>A	ENST00000572273.1	-	7	855	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	PI4KA_ENST00000255882.6_Nonsense_Mutation_p.E267*			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	209					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)			ATGCCGCGTTCAGGGCTGACC	0.493																																					p.E267X	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.G799T						.						55	52	53					22																	21172828		2203	4300	6503	SO:0001587	stop_gained	5297	exon7			CGCGTTCAGGGCT	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.625G>T	22.37:g.21172828C>A	ENSP00000458238:p.Glu209*	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	54	16	NM_058004	0	0	0	0	0	Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	39	7.780864	0.98486	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.16	5.16	0.70880	.	0.104721	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-23.9321	18.8434	0.92194	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	ENSP00000255882:E209X	E	-	1	0	PI4KA	19502828	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	6.941000	0.75922	2.678000	0.91216	0.563000	0.77884	GAA	.		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21172828	C	A	21172828	4	1	62	1	0	0	0	0	0	1	0	0	11912	835	29	3	5705	3	PI4KA	22	21172828	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	360681	21172828	30131738	1475	13843											
AIFM3	150209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	21334397	21334397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcaggccgtgccatcCggaagcgggaggtggagtga	18	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21334397C>T	ENST00000399167.2	+	19	1981	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.R581W|AIFM3_ENST00000335375.5_Missense_Mutation_p.R569W|AIFM3_ENST00000333607.6_Missense_Mutation_p.R581W|LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.R581W|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000405089.1_Missense_Mutation_p.R587W|LZTR1_ENST00000389355.3_5'Flank|XXbac-B135H6.18_ENST00000610278.1_lincRNA	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	581					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)	p.R581R(1)		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)			CCGTGCCATCCGGAAGCGGGA	0.632																																					p.R587W		.											.	AIFM3-280	1	Substitution - coding silent(1)	breast(1)	c.C1759T						.						65	52	57					22																	21334397		2203	4300	6503	SO:0001583	missense	150209	exon19			GCCATCCGGAAGC	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.1741C>T	22.37:g.21334397C>T	ENSP00000382120:p.Arg581Trp	Somatic	45	0		WXS	Illumina GAIIx	Phase_I	69	28	NM_001146288	0	0	3	5	2	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496217	0.85069	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.125968	0.49916	D	0.000136	T	0.54382	0.1855	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.999;0.998	D;P;D;D;D;P	0.67103	0.919;0.733;0.937;0.949;0.949;0.889	T	0.55749	-0.8092	10	0.72032	D	0.01	-6.1342	10.5841	0.45273	0.192:0.808:0.0:0.0	.	569;21;569;587;581;581	B7Z9S7;F5GXU8;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;.;AIFM3_HUMAN	W	581;581;587;569;581;581;21	ENSP00000382120:R581W;ENSP00000382116:R581W;ENSP00000385800:R587W;ENSP00000335369:R569W;ENSP00000390798:R581W;ENSP00000327671:R581W	ENSP00000327671:R581W	R	+	1	2	AIFM3;LZTR1	19664397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.421000	0.44688	2.530000	0.85305	0.655000	0.94253	CGG	.		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21334397	C	T	21334397	3	4	62	1	0	0	0	0	1	0	0	0	428	643	23	1	1829	1	AIFM3	22	21334397	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	161569	21334397	29970169	1476	13844											
HIC2	23119	hgsc.bcm.edu	37	chr22	21799659	21799659	+	Frame_Shift_Del	DEL	C	C	-													ggtccactggcatggggcggCccccccgcagccagcggctg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21799659delC	ENST00000443632.2	+	2	847	c.475delC	c.(475-477)cccfs	p.P160fs	HIC2_ENST00000407598.2_Frame_Shift_Del_p.P160fs|HIC2_ENST00000407464.2_Frame_Shift_Del_p.P160fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	160					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CATGGGGCGGCCCCCCCGCAG	0.721																																					p.P159fs	NSCLC(23;437 858 2282 27947 40366)	.											.	HIC2-703	0			c.475delC						.			26,3852		4,18,1917	7	9	8			0.5	0.4	22		8	58,7790		5,48,3871	no	frameshift	HIC2	NM_015094.2		9,66,5788	A1A1,A1R,RR		0.739,0.6704,0.7164			21799659	84,11642	2111	4200	6311	SO:0001589	frameshift_variant	23119	exon3			GGGCGGCCCCCCC	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.475delC	22.37:g.21799659delC	ENSP00000387757:p.Pro160fs	Somatic	9	1		WXS	Illumina GAIIx	Phase_I	42	14	NM_015094	0	0	0	0	0	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Del	DEL	ENST00000443632.2	37	CCDS13789.1																																																																																			.		0.721	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			-	21799659	C	-	21799659	7	5	62	1	0	1	0	1	0	0	0	0	7129	739	26	0	481	0	HIC2	22	21799659	Frame_Shift_Del	DEL	C	TCGA-PK-A5HB-01A-11D-A29I-10	465262	21799659	29504907	1477	13845											
CCDC116	164592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	21988695	21988695	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accccaacaactacccatccAgctccagctccatgtccaac	3	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21988695A>T	ENST00000292779.3	+	3	618	c.457A>T	c.(457-459)Agc>Tgc	p.S153C	CCDC116_ENST00000607942.1_Missense_Mutation_p.S153C	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	153	Poly-Ser.									endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTACCCATCCAGCTCCAGCTC	0.657																																					p.S153C		.											.	CCDC116-92	0			c.A457T						.						87	94	92					22																	21988695		2203	4299	6502	SO:0001583	missense	164592	exon3			CCATCCAGCTCCA	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.457A>T	22.37:g.21988695A>T	ENSP00000292779:p.Ser153Cys	Somatic	110	0		WXS	Illumina GAIIx	Phase_I	127	60	NM_152612	0	0	0	0	0	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021392	0.54576	.	.	ENSG00000161180	ENST00000292779	T	0.23552	1.9	4.42	-2.22	0.06952	.	0.594012	0.16315	N	0.219814	T	0.09905	0.0243	N	0.14661	0.345	0.21841	N	0.999519	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24225	-1.0166	9	.	.	.	-67.823	3.2038	0.06658	0.3472:0.336:0.0:0.3168	.	153;153	B7Z7H5;Q8IYX3-2	.;.	C	153	ENSP00000292779:S153C	.	S	+	1	0	CCDC116	20318695	0.141000	0.22595	0.985000	0.45067	0.853000	0.48598	-0.122000	0.10627	-0.238000	0.09724	-0.669000	0.03829	AGC	.		0.657	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21988695	A	T	21988695	3	4	62	1	0	0	0	0	1	0	0	0	2760	188	7	5	463	5	CCDC116	22	21988695	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	189036	21988695	29315871	1478	13846											
CCDC116	164592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	21989306	21989306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcaaagcgtggtcagCcaggctgtggataagctccg	14	12	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21989306C>T	ENST00000292779.3	+	4	1115	c.954C>T	c.(952-954)agC>agT	p.S318S	CCDC116_ENST00000607942.1_Silent_p.S318S	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	318										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGTGGTCAGCCAGGCTGTGG	0.672																																					p.S318S		.											.	CCDC116-92	0			c.C954T						.						37	41	39					22																	21989306		2203	4298	6501	SO:0001819	synonymous_variant	164592	exon4			GGTCAGCCAGGCT	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.954C>T	22.37:g.21989306C>T		Somatic	104	0		WXS	Illumina GAIIx	Phase_I	144	63	NM_152612	0	0	1	1	0	Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																			.		0.672	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21989306	C	T	21989306	2	4	62	1	0	0	0	0	0	0	0	1	2760	738	26	3		3	CCDC116	22	21989306	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	611	21989306	29315260	1479	13847											
MAPK1	5594	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	22153374	22153374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggaaccctgtgtgaTcatggtctggatctgcaaca	11	10	4	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:22153374T>C	ENST00000215832.6	-	4	724	c.536A>G	c.(535-537)gAt>gGt	p.D179G	MAPK1_ENST00000398822.3_Missense_Mutation_p.D179G|MAPK1_ENST00000544786.1_Missense_Mutation_p.D179G	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CCCTGTGTGATCATGGTCTGG	0.403																																					p.D179G		.											.	MAPK1-1405	0			c.A536G						.						90	79	82					22																	22153374		2203	4300	6503	SO:0001583	missense	5594	exon4			GTGTGATCATGGT	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.536A>G	22.37:g.22153374T>C	ENSP00000215832:p.Asp179Gly	Somatic	115	2		WXS	Illumina GAIIx	Phase_I	126	61	NM_002745	0	1	71	128	56	A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404201	0.83230	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.64618	-0.11;-0.11;-0.11	5.14	4.1	0.47936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.46567	1.45	0.80722	D	1	P;B	0.42692	0.787;0.326	P;P	0.56216	0.794;0.545	T	0.67142	-0.5745	10	0.51188	T	0.08	-3.3481	11.0168	0.47693	0.0:0.073:0.0:0.927	.	179;179	A8CZ64;P28482	.;MK01_HUMAN	G	179;167;179;179	ENSP00000215832:D179G;ENSP00000381803:D179G;ENSP00000440842:D179G	ENSP00000215832:D179G	D	-	2	0	MAPK1	20483374	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.868000	0.87116	0.967000	0.38186	0.459000	0.35465	GAT	.		0.403	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			C	22153374	T	C	22153374	3	2	62	1	0	0	0	0	1	0	0	0	9309	1435	50	4	566	4	MAPK1	22	22153374	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	164068	22153374	29151192	1480	13848											
PPM1F	9647	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	22277674	22277674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcggcgacacggagccCgctgccctgctgcctggtca	12	18	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:22277674C>T	ENST00000263212.5	-	8	1261	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R	PPM1F_ENST00000407142.1_Missense_Mutation_p.G218R|PPM1F_ENST00000538191.1_Missense_Mutation_p.G282R	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	386					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ACACGGAGCCCGCTGCCCTGC	0.652																																					p.G386R		.											.	PPM1F-292	0			c.G1156A						.						40	44	42					22																	22277674		2203	4300	6503	SO:0001583	missense	9647	exon8			GGAGCCCGCTGCC	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1156G>A	22.37:g.22277674C>T	ENSP00000263212:p.Gly386Arg	Somatic	66	1		WXS	Illumina GAIIx	Phase_I	162	67	NM_014634	0	0	7	20	13	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844659	0.51164	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.16597	2.33;2.33;2.33	5.3	5.3	0.74995	Protein phosphatase 2C-like (5);	0.273076	0.42172	D	0.000758	T	0.10380	0.0254	N	0.20328	0.56	0.54753	D	0.999986	B;B	0.34161	0.178;0.439	B;B	0.29663	0.046;0.105	T	0.24048	-1.0171	10	0.15499	T	0.54	-20.1769	14.0322	0.64622	0.1509:0.8491:0.0:0.0	.	282;386	B7Z2C3;P49593	.;PPM1F_HUMAN	R	386;218;218;282	ENSP00000263212:G386R;ENSP00000384930:G218R;ENSP00000439915:G282R	ENSP00000263212:G386R	G	-	1	0	PPM1F	20607674	0.134000	0.22483	0.808000	0.32385	0.444000	0.32077	0.939000	0.28978	2.757000	0.94681	0.655000	0.94253	GGG	.		0.652	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		T	22277674	C	T	22277674	3	4	62	1	0	0	0	0	1	0	0	0	12381	652	23	1	212	1	PPM1F	22	22277674	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	124300	22277674	29026892	1481	13849											
BCR	613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	23637231	23637231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgagatagagctggaGggctcccagaccctgaggat	14	8	0	4	rs200598253		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:23637231G>A	ENST00000305877.8	+	16	3652	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	967	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TAGAGCTGGAGGGCTCCCAGA	0.547			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																p.E967E		.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR-1349	0			c.G2901A						.						107	101	103					22																	23637231		2203	4300	6503	SO:0001819	synonymous_variant	613	exon16			GCTGGAGGGCTCC		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2901G>A	22.37:g.23637231G>A		Somatic	192	0		WXS	Illumina GAIIx	Phase_I	254	95	NM_004327	0	0	50	100	50	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			G|1.000;A|0.000		0.547	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		A	23637231	G	A	23637231	2	1	62	1	0	0	0	0	0	0	0	1	1389	991	35	3		3	BCR	22	23637231	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1359557	23637231	27667335	1482	13850											
MIF	4282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	24236679	24236679	+	Silent	SNP	A	A	T													atcatgccgatgttcatcgtAaacaccaacgtgccccgcgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24236679A>T	ENST00000215754.7	+	1	489	c.18A>T	c.(16-18)gtA>gtT	p.V6V	AP000350.10_ENST00000433835.3_Intron|AP000350.4_ENST00000406213.1_3'UTR	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			urinary_tract(1)	1						TGTTCATCGTAAACACCAACG	0.692																																					p.V6V		.											.	MIF-514	0			c.A18T						.						51	41	45					22																	24236679		2202	4300	6502	SO:0001819	synonymous_variant	4282	exon1			CATCGTAAACACC	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.18A>T	22.37:g.24236679A>T		Somatic	170	0		WXS	Illumina GAIIx	Phase_I	357	144	NM_002415	0	1	1772	1773	0	O75246|Q6GTN3	Silent	SNP	ENST00000215754.7	37	CCDS13819.1																																																																																			.		0.692	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1	NM_002415		T	24236679	A	T	24236679	2	4	62	1	0	0	0	0	0	0	0	1	9621	349	13	5		5	MIF	22	24236679	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	599448	24236679	27067887	1483	13851	135	2									
MIF	4282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	24236682	24236682	+	Missense_Mutation	SNP	C	C	A													atgccgatgttcatcgtaaaCaccaacgtgccccgcgcctc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24236682C>A	ENST00000215754.7	+	1	492	c.21C>A	c.(19-21)aaC>aaA	p.N7K	AP000350.10_ENST00000433835.3_Intron|AP000350.4_ENST00000406213.1_3'UTR	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			urinary_tract(1)	1						TCATCGTAAACACCAACGTGC	0.692																																					p.N7K		.											.	MIF-514	0			c.C21A						.						51	42	45					22																	24236682		2202	4300	6502	SO:0001583	missense	4282	exon1			CGTAAACACCAAC	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.21C>A	22.37:g.24236682C>A	ENSP00000215754:p.Asn7Lys	Somatic	168	0		WXS	Illumina GAIIx	Phase_I	354	144	NM_002415	1	0	1826	1832	4	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000215754.7	37	CCDS13819.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111176	0.77210	.	.	ENSG00000240972	ENST00000215754	.	.	.	5.4	0.317	0.15861	Tautomerase (2);	0.172917	0.49305	D	0.000146	T	0.39911	0.1096	L	0.33624	1.015	0.54753	D	0.999985	P	0.44478	0.836	P	0.45474	0.482	T	0.13469	-1.0508	9	0.45353	T	0.12	-30.4043	6.1229	0.20164	0.0:0.5683:0.1754:0.2563	.	7	P14174	MIF_HUMAN	K	7	.	ENSP00000215754:N7K	N	+	3	2	MIF	22566682	0.999000	0.42202	0.998000	0.56505	0.967000	0.64934	0.754000	0.26390	0.366000	0.24427	0.558000	0.71614	AAC	.		0.692	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1	NM_002415		A	24236682	C	A	24236682	3	1	62	1	0	0	0	0	1	0	0	0	9621	477	17	3	23	3	MIF	22	24236682	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3	24236682	27067884	1484	13852	135	2									
MIF	0	hgsc.bcm.edu	37	chr22	24237111	24237111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcctgctggccgagcgCctgcgcatcagcccggacag	15	16	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24237111C>T	ENST00000433835.3	+	5	584	c.584C>T	c.(583-585)gCc>gTc	p.A195V	MIF_ENST00000215754.7_Silent_p.R87R|AP000350.4_ENST00000406213.1_3'UTR																							TGGCCGAGCGCCTGCGCATCA	0.756																																					p.R87R		.											.	MIF-514	0			c.C261T						.						3	4	3					22																	24237111		1919	3844	5763	SO:0001583	missense	4282	exon2			CGAGCGCCTGCGC																												ENST00000433835.3:c.584C>T	22.37:g.24237111C>T	ENSP00000400325:p.Ala195Val	Somatic	2	0		WXS	Illumina GAIIx	Phase_I	30	17	NM_002415	2	2	1876	4238	2358		Silent	SNP	ENST00000433835.3	37																																																																																				.		0.756	AP000350.10-005	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000334403.3			T	24237111	C	T	24237111	3	4	62	1	0	0	0	0	1	0	0	0	9621	726	26	3	267	3	MIF	22	24237111	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	429	24237111	27067455	1485	13853											
CRYBB3	1417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	25601272	25601272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatgatgacgtgcccaGcctgtgggctcatggcttcc	14	11	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:25601272G>A	ENST00000215855.2	+	5	493	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	138	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GACGTGCCCAGCCTGTGGGCT	0.572																																					p.G138D		.											.	CRYBB3-90	0			c.G413A						.						105	80	88					22																	25601272		2203	4300	6503	SO:0001583	missense	1417	exon5			TGCCCAGCCTGTG		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.413G>A	22.37:g.25601272G>A	ENSP00000215855:p.Ser138Asn	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	279	127	NM_004076	0	0	2	3	1	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839675	0.91117	.	.	ENSG00000100053	ENST00000215855	T	0.75938	-0.98	5.2	4.19	0.49359	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.040598	0.85682	N	0.000000	T	0.77745	0.4176	L	0.42008	1.315	0.80722	D	1	P	0.44344	0.833	P	0.57244	0.816	T	0.75631	-0.3251	10	0.37606	T	0.19	.	12.229	0.54476	0.0831:0.0:0.9169:0.0	.	138	P26998	CRBB3_HUMAN	N	138	ENSP00000215855:S138N	ENSP00000215855:S138N	S	+	2	0	CRYBB3	23931272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.989000	0.76219	1.190000	0.43042	0.555000	0.69702	AGC	.		0.572	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		A	25601272	G	A	25601272	3	1	62	1	0	0	0	0	1	0	0	0	3919	971	34	3	427	3	CRYBB3	22	25601272	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1364161	25601272	25703294	1486	13854											
ASCC2	84164	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	30197089	30197089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggggtgtagggtctgGtttcatttctctgggtgggg	18	6	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:30197089G>A	ENST00000397771.2	-	16	1756	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S	ASCC2_ENST00000307790.3_Missense_Mutation_p.P527S|ASCC2_ENST00000542393.1_Missense_Mutation_p.P451S			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	527					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)			GTAGGGTCTGGTTTCATTTCT	0.542																																					p.P527S		.											.	ASCC2-90	0			c.C1579T						.						164	163	163					22																	30197089		2203	4300	6503	SO:0001583	missense	84164	exon15			GGTCTGGTTTCAT	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.1579C>T	22.37:g.30197089G>A	ENSP00000380877:p.Pro527Ser	Somatic	85	1		WXS	Illumina GAIIx	Phase_I	87	36	NM_032204	0	0	0	0	0	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659647	0.47572	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000411532	T;T;T;T	0.33865	2.7;2.7;2.71;1.39	5.17	5.17	0.71159	.	0.322228	0.35320	N	0.003285	T	0.36580	0.0972	M	0.70595	2.14	0.45330	D	0.998325	B;P	0.47302	0.36;0.893	B;B	0.37692	0.245;0.256	T	0.26052	-1.0114	10	0.23891	T	0.37	-12.9767	15.9749	0.80054	0.0:0.0:1.0:0.0	.	451;527	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	S	527;527;451;18	ENSP00000305502:P527S;ENSP00000380877:P527S;ENSP00000437570:P451S;ENSP00000414545:P18S	ENSP00000305502:P527S	P	-	1	0	ASCC2	28527089	1.000000	0.71417	0.986000	0.45419	0.806000	0.45545	2.730000	0.47335	2.688000	0.91661	0.563000	0.77884	CCA	.		0.542	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		A	30197089	G	A	30197089	3	1	62	1	0	0	0	0	1	0	0	0	1033	1261	44	3	718	3	ASCC2	22	30197089	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	4595817	30197089	21107477	1487	13855											
LIF	3976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	30639991	30639991	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagggcgggaagtccgtCacgttggggccacatagctt	16	9	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:30639991C>T	ENST00000249075.3	-	3	413	c.258G>A	c.(256-258)gtG>gtA	p.V86V	RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_Missense_Mutation_p.D27N	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	86					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGAAGTCCGTCACGTTGGGGC	0.627																																					p.D27N		.											.	LIF-650	0			c.G79A						.						112	98	103					22																	30639991		2203	4300	6503	SO:0001819	synonymous_variant	3976	exon2			GTCCGTCACGTTG		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"differentiation inhibitory activity", "differentiation-inducing factor", "hepatocyte-stimulating factor III", "cholinergic differentiation factor", "human interleukin in DA cells"	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.258G>A	22.37:g.30639991C>T		Somatic	108	0		WXS	Illumina GAIIx	Phase_I	146	65	NM_001257135	0	0	2	2	0	B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348675	0.41599	.	.	ENSG00000128342	ENST00000403987	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.22982	N	0.998479	D	0.71674	0.998	D	0.68943	0.961	T	0.57177	-0.7856	7	0.87932	D	0	-9.6573	11.3733	0.49713	0.0:0.8005:0.1995:0.0	.	27	B5MC23	.	N	27	.	ENSP00000384450:D27N	D	-	1	0	LIF	28969991	0.986000	0.35501	0.951000	0.38953	0.871000	0.50021	1.165000	0.31822	2.132000	0.65825	0.561000	0.74099	GAC	.		0.627	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		T	30639991	C	T	30639991	2	4	62	1	0	0	0	0	0	0	0	1	8808	813	29	3		3	LIF	22	30639991	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	442902	30639991	20664575	1488	13856											
PATZ1	23598	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	31740473	31740473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgggacagcttgtgCcggttaagatgatacacatc	12	9	0	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000351933.4_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					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.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																					p.R372R		.											.	PATZ1-590	2	Substitution - coding silent(2)	kidney(2)	c.G1116A						.						113	108	110					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598	exon1			CTTGTGCCGGTTA	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.1116G>A	22.37:g.31740473C>T		Somatic	125	1		WXS	Illumina GAIIx	Phase_I	191	84	NM_032050	0	0	11	20	9	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	CCDS13894.1																																																																																			.		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		T	31740473	C	T	31740473	2	4	62	1	0	0	0	0	0	0	0	1	11515	726	26	3		3	PATZ1	22	31740473	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1100482	31740473	19564093	1489	13857											
PATZ1	23598	broad.mit.edu;bcgsc.ca	37	chr22	31741473	31741473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagcacgtcgcagaagCgcccgccgtttttgcgctgc	13	14	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:31741473C>A	ENST00000266269.5	-	1	745	c.116G>T	c.(115-117)cGc>cTc	p.R39L	PATZ1_ENST00000351933.4_Missense_Mutation_p.R39L|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.R39L|PATZ1_ENST00000215919.3_Missense_Mutation_p.R39L	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	39					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCGCAGAAGCGCCCGCCGTT	0.647																																					p.R39L		.											.	PATZ1-590	0			c.G116T						.						37	33	35					22																	31741473		2203	4299	6502	SO:0001583	missense	23598	exon1			CAGAAGCGCCCGC	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.116G>T	22.37:g.31741473C>A	ENSP00000266269:p.Arg39Leu	Somatic	131	2		WXS	Illumina GAIIx	Phase_I	274	129	NM_032050	0	0	1	5	4	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015598	0.93404	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.09	4.09	0.47781	BTB/POZ (1);BTB/POZ fold (2);	0.324284	0.29783	N	0.011207	T	0.60919	0.2306	N	0.01742	-0.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.987;0.999;0.999	D;D;D;D	0.85130	0.995;0.988;0.997;0.995	T	0.75581	-0.3268	10	0.87932	D	0	-15.7962	15.2957	0.73906	0.0:1.0:0.0:0.0	.	39;39;39;39	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	L	39	ENSP00000266269:R39L;ENSP00000384173:R39L;ENSP00000337520:R39L;ENSP00000215919:R39L	ENSP00000215919:R39L	R	-	2	0	PATZ1	30071473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	1.994000	0.58287	0.485000	0.47835	CGC	.		0.647	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		A	31741473	C	A	31741473	3	1	62	1	0	0	0	0	1	0	0	0	11515	768	27	2	2250	2	PATZ1	22	31741473	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	1000	31741473	19563093	1490	13858											
MCM5	4174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	35815946	35815946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctacatcatcatgcggagCggggcccgtcagcacgagag	14	13	3	1	rs374156334		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:35815946C>T	ENST00000216122.4	+	14	1927	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	MCM5_ENST00000382011.5_Silent_p.S548S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	591				S -> T (in Ref. 3; BAA12176). {ECO:0000305}.	DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCATGCGGAGCGGGGCCCGTC	0.652																																					p.S591S		.											.	MCM5-228	0			c.C1773T						.	C		0,4406		0,0,2203	60	63	62		1773	-0.3	1	22		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCM5	NM_006739.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		591/735	35815946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4174	exon14			GCGGAGCGGGGCC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1773C>T	22.37:g.35815946C>T		Somatic	202	0		WXS	Illumina GAIIx	Phase_I	384	162	NM_006739	0	0	40	84	44	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	CCDS13915.1																																																																																			.		0.652	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			T	35815946	C	T	35815946	2	4	62	1	0	0	0	0	0	0	0	1	9428	767	27	1		1	MCM5	22	35815946	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	4074473	35815946	15488620	1491	13859											
APOL6	80830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	36055125	36055125	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggaaagattatcTataatcttagaaacaccttg	7	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:36055125T>A	ENST00000409652.4	+	3	790	c.514T>A	c.(514-516)Tat>Aat	p.Y172N		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	172					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AAAGATTATCTATAATCTTAG	0.493																																					p.Y172N		.											.	APOL6-90	0			c.T514A						.						61	62	62					22																	36055125		2203	4300	6503	SO:0001583	missense	80830	exon3			ATTATCTATAATC	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.514T>A	22.37:g.36055125T>A	ENSP00000386280:p.Tyr172Asn	Somatic	55	0		WXS	Illumina GAIIx	Phase_I	68	35	NM_030641	0	0	3	9	6	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	T	7.369	0.626440	0.14257	.	.	ENSG00000221963	ENST00000409652	T	0.03124	4.04	4.14	1.89	0.25635	.	2.230900	0.01754	N	0.030103	T	0.04724	0.0128	L	0.36672	1.1	0.09310	N	1	P	0.44241	0.829	B	0.44044	0.439	T	0.36986	-0.9725	10	0.16420	T	0.52	-14.1265	3.6187	0.08087	0.1924:0.1141:0.0:0.6936	.	172	Q9BWW8	APOL6_HUMAN	N	172	ENSP00000386280:Y172N	ENSP00000386280:Y172N	Y	+	1	0	APOL6	34385071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.038000	0.12144	0.238000	0.21222	0.533000	0.62120	TAT	.		0.493	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		A	36055125	T	A	36055125	3	1	62	1	0	0	0	0	1	0	0	0	810	1522	53	5	520	5	APOL6	22	36055125	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	239179	36055125	15249441	1492	13860											
FOXRED2	80020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	36902258	36902258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcggtgccgcgggtagCgtgtgaagaagctgccgggc	19	10	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:36902258C>T	ENST00000397224.4	-	2	305	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R71H|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R71H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	71			R -> C (in dbSNP:rs56767103).		ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCGGGTAGCGTGTGAAGAA	0.667																																					p.R71H		.											.	FOXRED2-92	0			c.G212A						.						75	55	62					22																	36902258		2203	4300	6503	SO:0001583	missense	80020	exon2			GGGTAGCGTGTGA	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.212G>A	22.37:g.36902258C>T	ENSP00000380401:p.Arg71His	Somatic	104	0		WXS	Illumina GAIIx	Phase_I	166	68	NM_001102371	0	0	14	21	7	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921265	0.52653	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223;ENST00000423980	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.04	3.95	0.45737	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.201070	0.44097	D	0.000489	T	0.15609	0.0376	L	0.40543	1.245	0.30354	N	0.784522	B	0.25667	0.131	B	0.20767	0.031	T	0.05989	-1.0852	10	0.22109	T	0.4	-31.9668	10.4861	0.44722	0.3123:0.6877:0.0:0.0	.	71	Q8IWF2	FXRD2_HUMAN	H	71	ENSP00000380401:R71H;ENSP00000216187:R71H;ENSP00000380400:R71H;ENSP00000409692:R71H	ENSP00000216187:R71H	R	-	2	0	FOXRED2	35232204	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.569000	0.36428	2.337000	0.79520	0.561000	0.74099	CGC	.		0.667	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		T	36902258	C	T	36902258	3	4	62	1	0	0	0	0	1	0	0	0	6058	768	27	1	1874	1	FOXRED2	22	36902258	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	847133	36902258	14402308	1493	13861											
C22orf33	339669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37398216	37398216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggctcccaggggcagggGctgtggggatgacagaccct	18	11	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37398216G>T	ENST00000405091.2	-	4	402	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	TEX33_ENST00000381821.1_Missense_Mutation_p.P51T|TEX33_ENST00000402860.3_5'UTR			O43247	TEX33_HUMAN	testis expressed 33	51																	AGGGGCAGGGGCTGTGGGGAT	0.612																																					p.P51T		.											.	.	0			c.C151A						.						13	16	15					22																	37398216		692	1591	2283	SO:0001583	missense	339669	exon3			GCAGGGGCTGTGG	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.151C>A	22.37:g.37398216G>T	ENSP00000386118:p.Pro51Thr	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	94	43	NM_001163857	0	0	0	0	0	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	.	10.17	1.277355	0.23307	.	.	ENSG00000185264	ENST00000405091;ENST00000381821	.	.	.	5.67	1.16	0.20824	.	1.210830	0.06257	N	0.693249	T	0.22820	0.0551	N	0.22421	0.69	0.09310	N	1	B	0.28636	0.218	B	0.25140	0.058	T	0.27905	-1.0060	9	0.62326	D	0.03	.	2.8736	0.05624	0.3839:0.0:0.419:0.1971	.	51	O43247	EAN57_HUMAN	T	51	.	ENSP00000371243:P51T	P	-	1	0	C22orf33	35728162	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.365000	0.07573	-0.012000	0.14223	-0.145000	0.13849	CCC	.		0.612	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		T	37398216	G	T	37398216	3	4	62	1	0	0	0	0	1	0	0	0	2152	1203	42	3	707	3	C22orf33	22	37398216	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	495958	37398216	13906350	1494	13862											
SSTR3	6753	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	37602677	37602677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctggccactctgctgGgcggccgctcctgcccgctg	13	18	1	0	rs386821181		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37602677G>T	ENST00000328544.3	-	2	1699	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	SSTR3_ENST00000402501.1_Missense_Mutation_p.P389H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	389					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CACTCTGCTGGGCGGCCGCTC	0.672																																					p.P389H		.											.	SSTR3-522	0			c.C1166A						.						46	47	47					22																	37602677		2203	4300	6503	SO:0001583	missense	6753	exon2			CTGCTGGGCGGCC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1166C>A	22.37:g.37602677G>T	ENSP00000330138:p.Pro389His	Somatic	34	1		WXS	Illumina GAIIx	Phase_I	80	40	NM_001051	0	0	0	0	0	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640725	0.29157	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.72835	-0.69;-0.69	5.61	-0.198	0.13224	.	2.005890	0.02043	N	0.049472	T	0.64494	0.2603	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37957	-0.9683	10	0.45353	T	0.12	.	3.9636	0.09421	0.3568:0.0:0.3905:0.2527	.	389	P32745	SSR3_HUMAN	H	389	ENSP00000330138:P389H;ENSP00000384904:P389H	ENSP00000330138:P389H	P	-	2	0	SSTR3	35932623	0.452000	0.25713	0.000000	0.03702	0.786000	0.44442	0.430000	0.21428	-0.167000	0.10871	0.591000	0.81541	CCC	.		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			T	37602677	G	T	37602677	3	4	62	1	0	0	0	0	1	0	0	0	15246	1232	43	3	94	3	SSTR3	22	37602677	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	204461	37602677	13701889	1495	13863											
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37891531	37891531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgtgctcacattactgCgggggcctcggtgccggctg	15	14	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37891531C>T	ENST00000403299.1	-	16	2582	c.2366G>A	c.(2365-2367)cGc>cAc	p.R789H	CARD10_ENST00000406271.3_Missense_Mutation_p.R503H|CARD10_ENST00000251973.5_Missense_Mutation_p.R789H			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	789					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)					CACATTACTGCGGGGGCCTCG	0.607																																					p.R789H		.											.	CARD10-662	0			c.G2366A						.						23	24	24					22																	37891531		2202	4299	6501	SO:0001583	missense	29775	exon15			TTACTGCGGGGGC	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.2366G>A	22.37:g.37891531C>T	ENSP00000384570:p.Arg789His	Somatic	41	0		WXS	Illumina GAIIx	Phase_I	42	19	NM_014550	0	0	0	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270975	0.80469	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.51071	0.72;2.38;0.72;0.94	5.22	5.22	0.72569	.	0.167478	0.38897	N	0.001537	T	0.65281	0.2676	M	0.71036	2.16	0.30954	N	0.724454	D;D	0.89917	1.0;1.0	D;D	0.74674	0.926;0.984	T	0.69960	-0.5003	10	0.87932	D	0	-18.8501	11.4251	0.50004	0.0:0.9138:0.0:0.0862	.	789;503	Q9BWT7;Q8NC81	CAR10_HUMAN;.	H	789;503;789;430	ENSP00000384570:R789H;ENSP00000385799:R503H;ENSP00000251973:R789H;ENSP00000416239:R430H	ENSP00000251973:R789H	R	-	2	0	CARD10	36221477	0.990000	0.36364	0.996000	0.52242	0.972000	0.66771	2.993000	0.49425	2.431000	0.82371	0.555000	0.69702	CGC	.		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		T	37891531	C	T	37891531	3	4	62	1	0	0	0	0	1	0	0	0	2651	768	27	1	756	1	CARD10	22	37891531	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	288854	37891531	13413035	1496	13864											
GCAT	23464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	38205970	38205970	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctggcactgtcAtctttccaggcctgcccttg	10	17	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38205970A>G	ENST00000248924.6	+	2	252				GCAT_ENST00000415371.1_Intron|GCAT_ENST00000323205.6_Missense_Mutation_p.I71V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase						biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGGCACTGTCATCTTTCCAGG	0.542																																					p.I71V		.											.	GCAT-90	0			c.A211G						.						84	66	72					22																	38205970		692	1591	2283	SO:0001627	intron_variant	23464	exon2			ACTGTCATCTTTC	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.197-64A>G	22.37:g.38205970A>G		Somatic	116	0		WXS	Illumina GAIIx	Phase_I	142	61	NM_001171690	0	0	0	0	0	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	a	12.80	2.046431	0.36085	.	.	ENSG00000100116	ENST00000323205;ENST00000445195;ENST00000394944	D;T	0.94723	-3.5;-1.43	3.87	-6.4	0.01944	.	.	.	.	.	D	0.82346	0.5017	N	0.03608	-0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.70088	-0.4968	9	0.87932	D	0	.	6.1818	0.20476	0.3162:0.2638:0.42:0.0	.	71	E2QC23	.	V	71	ENSP00000371110:I71V;ENSP00000406719:I71V	ENSP00000371110:I71V	I	+	1	0	GCAT	36535916	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-1.263000	0.02850	-1.370000	0.02144	0.260000	0.18958	ATC	.		0.542	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		G	38205970	A	G	38205970	1	3	62	0	1	0	0	0	0	0	0	0	6309	217	8	4		4	GCAT	22	38205970	Intron	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	314439	38205970	13098596	1497	13865											
GALR3	8484	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr22	38221167	38221167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacggccgcttcgccttcaGcccggccacctacgcctgcc	10	20	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38221167G>A	ENST00000249041.2	+	2	822	c.797G>A	c.(796-798)aGc>aAc	p.S266N		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					TTCGCCTTCAGCCCGGCCACC	0.721																																					p.S266N		.											.	GALR3-90	0			c.G797A						.						14	12	12					22																	38221167		1851	3655	5506	SO:0001583	missense	8484	exon2			CCTTCAGCCCGGC	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"GPCR / Class A : Galanin receptors"	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.797G>A	22.37:g.38221167G>A	ENSP00000249041:p.Ser266Asn	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	87	35	NM_003614	0	0	0	0	0	Q53YJ4	Missense_Mutation	SNP	ENST00000249041.2	37	CCDS13958.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735468	0.15574	.	.	ENSG00000128310	ENST00000249041	T	0.72167	-0.63	4.24	0.209	0.15226	GPCR, rhodopsin-like superfamily (1);	0.101468	0.64402	D	0.000004	T	0.33030	0.0849	N	0.02658	-0.545	0.29701	N	0.840184	B	0.12630	0.006	B	0.10450	0.005	T	0.13953	-1.0490	10	0.11182	T	0.66	.	2.0852	0.03644	0.2925:0.0:0.2122:0.4952	.	266	O60755	GALR3_HUMAN	N	266	ENSP00000249041:S266N	ENSP00000249041:S266N	S	+	2	0	GALR3	36551113	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.760000	0.55235	0.201000	0.20466	0.313000	0.20887	AGC	.		0.721	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1			A	38221167	G	A	38221167	3	1	62	1	0	0	0	0	1	0	0	0	6254	971	34	3	803	3	GALR3	22	38221167	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	15197	38221167	13083399	1498	13866											
TMEM184B	25829	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	38620883	38620883	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacatctccacacagatgatGaagtcctggtagccggcagc	10	12	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38620883G>A	ENST00000361906.3	-	8	1099	c.891C>T	c.(889-891)ttC>ttT	p.F297F	TMEM184B_ENST00000504337.1_5'Flank|TMEM184B_ENST00000361684.4_Silent_p.F297F	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	297						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CACAGATGATGAAGTCCTGGT	0.617																																					p.F297F		.											.	TMEM184B-68	0			c.C891T						.						60	48	52					22																	38620883		2203	4300	6503	SO:0001819	synonymous_variant	25829	exon8			GATGATGAAGTCC	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.891C>T	22.37:g.38620883G>A		Somatic	157	1		WXS	Illumina GAIIx	Phase_I	208	76	NM_001195071	0	0	27	52	25	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Silent	SNP	ENST00000361906.3	37	CCDS13969.2																																																																																			.		0.617	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		A	38620883	G	A	38620883	2	1	62	1	0	0	0	0	0	0	0	1	16152	1281	45	3		3	TMEM184B	22	38620883	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	399716	38620883	12683683	1499	13867											
DNAJB7	150353	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	41257875	41257877	+	In_Frame_Del	DEL	CTT	CTT	-													ttctttgaattttctctctgCttcttctttattttctggat					rs2269619	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:41257875_41257877delCTT	ENST00000307221.4	-	1	253_255	c.122_124delAAG	c.(121-126)gaagca>gca	p.E41del	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.		E -> A (in dbSNP:rs2269619).				chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTCTCTCTGCTTCTTCTTTATT	0.365																																					p.41_42del		.											.	DNAJB7-227	0			c.122_124del						.		,,	10,4254		4,2,2126					,,	4.5	1			179	38,8216		18,2,4107	no	coding,intron,utr-3	XPNPEP3,DNAJB7	NM_145174.1,NM_022098.3,NM_001204827.1	,,	22,4,6233	A1A1,A1R,RR		0.4604,0.2345,0.3834	,,	,,		48,12470				SO:0001651	inframe_deletion	150353	exon1			TCTCTGCTTCTTC	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.122_124delAAG	22.37:g.41257881_41257883delCTT	ENSP00000307197:p.Glu41del	Somatic	58	0		WXS	Illumina GAIIx	Phase_I	51	17	NM_145174	0	0	0	0	0	Q2M220|Q5H904|Q8WYJ7	In_Frame_Del	DEL	ENST00000307221.4	37	CCDS14008.1																																																																																			.		0.365	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		-	41257877	CTT	-	41257875	7	5	62	1	0	1	0	1	0	0	0	0	4639	797	28	0	809	0	DNAJB7	22	41257875	In_Frame_Del	DEL	CTT	TCGA-PK-A5HB-01A-11D-A29I-10	2636992	41257875	10046691	1500	13868											
L3MBTL2	83746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	41621937	41621937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgacattgagctcacacCgccaaaaggtaagactagag	10	9	1	4			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:41621937C>T	ENST00000216237.5	+	12	1654	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	499					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.P499L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGCTCACACCGCCAAAAGGT	0.587																																					p.P499L		.											.	L3MBTL2-92	1	Substitution - Missense(1)	skin(1)	c.C1496T						.						82	61	68					22																	41621937		2203	4300	6503	SO:0001583	missense	83746	exon12			TCACACCGCCAAA	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1496C>T	22.37:g.41621937C>T	ENSP00000216237:p.Pro499Leu	Somatic	81	0		WXS	Illumina GAIIx	Phase_I	87	35	NM_031488	0	0	1	1	0	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977291	0.53720	.	.	ENSG00000100395	ENST00000216237	T	0.41065	1.01	4.97	2.88	0.33553	.	0.290799	0.39759	N	0.001280	T	0.60104	0.2243	M	0.90309	3.105	0.19575	N	0.999968	P;D	0.64830	0.666;0.994	B;P	0.59171	0.054;0.853	T	0.55630	-0.8111	10	0.87932	D	0	.	4.7514	0.13063	0.1505:0.6108:0.0:0.2387	.	499;499	Q969R5-3;Q969R5	.;LMBL2_HUMAN	L	499	ENSP00000216237:P499L	ENSP00000216237:P499L	P	+	2	0	L3MBTL2	39951883	0.126000	0.22350	0.447000	0.26932	0.831000	0.47069	1.314000	0.33597	0.503000	0.28060	0.561000	0.74099	CCG	.		0.587	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		T	41621937	C	T	41621937	3	4	62	1	0	0	0	0	1	0	0	0	8620	652	23	1	1542	1	L3MBTL2	22	41621937	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	364062	41621937	9682629	1501	13869											
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	42099452	42099453	+	Frame_Shift_Ins	INS	-	-	T													catccacttcataagtgtgcINStttttggtaagattaagagg							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:42099452_42099453insT	ENST00000401548.3	+	2	332_333	c.292_293insT	c.(292-294)cttfs	p.L98fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'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						CATAAGTGTGCTTTTTGGTAAG	0.421																																					p.L98fs		.											.	MEI1-70	0			c.292_293insT						.																																			SO:0001589	frameshift_variant	150365	exon2			AGTGTGCTTTTTG	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.297dupT	22.37:g.42099457_42099457dupT	ENSP00000384115:p.Leu98fs	Somatic	86	0		WXS	Illumina GAIIx	Phase_I	111	44	NM_152513	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000401548.3	37	CCDS46718.1																																																																																			.		0.421	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		T	42099453	-	T	42099452	7	5	62	1	0	1	1	0	0	0	0	0	9503	797	28	0	298	0	MEI1	22	42099452	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	477515	42099452	9205114	1502	13870											
FAM109B	150368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	42473559	42473559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgaggagtttgcctttGccatctgctttgatgcccct	10	13	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:42473559G>A	ENST00000321753.3	+	3	449	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	SMDT1_ENST00000331479.3_5'Flank|snoU13_ENST00000458891.1_RNA	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	88	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GTTTGCCTTTGCCATCTGCTT	0.677																																					p.A88T		.											.	FAM109B-90	0			c.G262A						.						81	86	84					22																	42473559		2203	4300	6503	SO:0001583	missense	150368	exon3			GCCTTTGCCATCT	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.262G>A	22.37:g.42473559G>A	ENSP00000312753:p.Ala88Thr	Somatic	79	0		WXS	Illumina GAIIx	Phase_I	110	46	NM_001002034	0	0	1	1	0	Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620773	0.46736	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.74106	-0.81;-0.81	4.92	3.87	0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.180371	0.48286	D	0.000185	T	0.79221	0.4409	L	0.49126	1.545	0.44048	D	0.996782	D	0.76494	0.999	D	0.71184	0.972	T	0.75039	-0.3458	10	0.26408	T	0.33	-7.4131	10.1139	0.42579	0.0:0.1494:0.6957:0.155	.	88	Q6ICB4	SESQ2_HUMAN	T	88	ENSP00000312753:A88T;ENSP00000396170:A88T	ENSP00000312753:A88T	A	+	1	0	FAM109B	40803505	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	5.620000	0.67736	1.004000	0.39156	0.591000	0.81541	GCC	.		0.677	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		A	42473559	G	A	42473559	3	1	62	1	0	0	0	0	1	0	0	0	5414	1319	46	3	264	3	FAM109B	22	42473559	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	374107	42473559	8831007	1503	13871											
A4GALT	53947	hgsc.bcm.edu;broad.mit.edu	37	chr22	43089757	43089757	+	Frame_Shift_Del	DEL	G	G	-													gggccgtgggagggtggggtGgggggtgtcaaggtggggca					rs200094764		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:43089757delG	ENST00000401850.1	-	2	690	c.201delC	c.(199-201)cccfs	p.P67fs	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Frame_Shift_Del_p.P67fs|A4GALT_ENST00000381278.3_Frame_Shift_Del_p.P67fs			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	67					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.T68fs*46(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGGGTGGGGTGGGGGGTGTCA	0.597																																					p.P67fs		.											.	A4GALT-90	1	Deletion - Frameshift(1)	large_intestine(1)	c.201delC						.						13	14	14					22																	43089757		2194	4287	6481	SO:0001589	frameshift_variant	53947	exon3			TGGGGTGGGGGGT		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.201delC	22.37:g.43089757delG	ENSP00000384794:p.Pro67fs	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	36	17	NM_017436	0	0	0	0	0	B2R7C4|Q9P1X5	Frame_Shift_Del	DEL	ENST00000401850.1	37	CCDS14041.1																																																																																			.		0.597	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		-	43089757	G	-	43089757	7	5	62	1	0	1	0	1	0	0	0	0	6	1335	47	0	864	0	A4GALT	22	43089757	Frame_Shift_Del	DEL	G	TCGA-PK-A5HB-01A-11D-A29I-10	616198	43089757	8214809	1504	13872											
PPARA	5465	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	46627995	46627995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatggaaatgggtttataActcgtgaattcctaaaaagc	9	6	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46627995A>G	ENST00000396000.2	+	7	1283	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A	PPARA_ENST00000402126.1_Missense_Mutation_p.T340A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.T340A|PPARA_ENST00000407236.1_Missense_Mutation_p.T340A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	340	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TGGGTTTATAACTCGTGAATT	0.423																																					p.T340A		.											.	PPARA-611	0			c.A1018G						.						198	182	187					22																	46627995		2203	4300	6503	SO:0001583	missense	5465	exon7			TTTATAACTCGTG	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.1018A>G	22.37:g.46627995A>G	ENSP00000379322:p.Thr340Ala	Somatic	208	2		WXS	Illumina GAIIx	Phase_I	243	100	NM_001001928	0	0	1	3	2	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385641	0.61956	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.976;1.0	P;D	0.91635	0.842;0.999	D	0.98574	1.0647	10	0.59425	D	0.04	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	121;340	F5H1U1;Q07869	.;PPARA_HUMAN	A	340;340;121;340;340	ENSP00000379322:T340A;ENSP00000262735:T340A;ENSP00000385523:T340A;ENSP00000385246:T340A	ENSP00000262735:T340A	T	+	1	0	PPARA	45006659	1.000000	0.71417	0.096000	0.21009	0.180000	0.23129	9.117000	0.94347	2.084000	0.62774	0.533000	0.62120	ACT	.		0.423	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		G	46627995	A	G	46627995	3	3	62	1	0	0	0	0	1	0	0	0	12336	43	2	4	1036	4	PPARA	22	46627995	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3538238	46627995	4676571	1505	13873											
PKDREJ	10343	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	46654833	46654833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaggatgcttttgaggagAtacctcctttagatccgctt	10	8	0	4	rs543952987		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46654833A>G	ENST00000253255.5	-	1	4386	c.4387T>C	c.(4387-4389)Tct>Cct	p.S1463P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1463					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)		TTTTGAGGAGATACCTCCTTT	0.423																																					p.S1463P		.											.	PKDREJ-156	0			c.T4387C						.						107	100	102					22																	46654833		2203	4300	6503	SO:0001583	missense	10343	exon1			GAGGAGATACCTC	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.4387T>C	22.37:g.46654833A>G	ENSP00000253255:p.Ser1463Pro	Somatic	91	1		WXS	Illumina GAIIx	Phase_I	100	29	NM_006071	0	0	0	0	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313025	0.23908	.	.	ENSG00000130943	ENST00000253255	T	0.36520	1.25	4.84	-9.55	0.00569	.	0.993298	0.08162	N	0.988314	T	0.20414	0.0491	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16689	-1.0394	10	0.35671	T	0.21	-2.61	5.0514	0.14511	0.6133:0.1582:0.0929:0.1355	.	1463	Q9NTG1	PKDRE_HUMAN	P	1463	ENSP00000253255:S1463P	ENSP00000253255:S1463P	S	-	1	0	PKDREJ	45033497	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-3.552000	0.00433	-1.833000	0.01195	0.459000	0.35465	TCT	.		0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46654833	A	G	46654833	3	3	62	1	0	0	0	0	1	0	0	0	12009	333	12	4	2378	4	PKDREJ	22	46654833	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	26838	46654833	4649733	1506	13874											
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	46657944	46657944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgaagaaatacacgtggtCgcctttaagtgtttctggca	10	8	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46657944C>T	ENST00000253255.5	-	1	1275	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	426	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TACACGTGGTCGCCTTTAAGT	0.532																																					p.D426N		.											.	PKDREJ-156	0			c.G1276A						.						101	101	101					22																	46657944		2203	4300	6503	SO:0001583	missense	10343	exon1			CGTGGTCGCCTTT	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.1276G>A	22.37:g.46657944C>T	ENSP00000253255:p.Asp426Asn	Somatic	111	0		WXS	Illumina GAIIx	Phase_I	140	73	NM_006071	0	0	0	0	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	6.145	0.395041	0.11638	.	.	ENSG00000130943	ENST00000253255	T	0.65732	-0.17	5.17	-2.34	0.06704	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.308880	0.04933	N	0.457254	T	0.32224	0.0822	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.33954	-0.9848	10	0.02654	T	1	-1.3743	7.2188	0.25975	0.0:0.4467:0.1154:0.4379	.	426	Q9NTG1	PKDRE_HUMAN	N	426	ENSP00000253255:D426N	ENSP00000253255:D426N	D	-	1	0	PKDREJ	45036608	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-0.155000	0.10115	-0.207000	0.10187	0.650000	0.86243	GAC	.		0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46657944	C	T	46657944	3	4	62	1	0	0	0	0	1	0	0	0	12009	884	31	1	5489	1	PKDREJ	22	46657944	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3111	46657944	4646622	1507	13875											
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr22	46658470	46658470	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgatggcgcgcgcggcCgggcagtccagctgcaccga	18	14	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46658470C>G	ENST00000253255.5	-	1	749	c.750G>C	c.(748-750)ccG>ccC	p.P250P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	250	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCGCGCGGCCGGGCAGTCCA	0.706																																					p.P250P		.											.	PKDREJ-156	0			c.G750C						.						24	28	26					22																	46658470		2199	4295	6494	SO:0001819	synonymous_variant	10343	exon1			CGCGGCCGGGCAG	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.750G>C	22.37:g.46658470C>G		Somatic	15	0		WXS	Illumina GAIIx	Phase_I	175	79	NM_006071	0	0	0	0	0	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			.		0.706	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46658470	C	G	46658470	2	3	62	1	0	0	0	0	0	0	0	1	12009	639	23	2		2	PKDREJ	22	46658470	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	526	46658470	4646096	1508	13876											
CELSR1	9620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	46835094	46835094	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgcacactcacgtgagggaGatggtgaagtggaagcgctg	16	8	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46835094G>A	ENST00000262738.3	-	3	4397	c.4398C>T	c.(4396-4398)atC>atT	p.I1466I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1466	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGTGAGGGAGATGGTGAAGT	0.627																																					p.I1466I		.											.	CELSR1-525	0			c.C4398T						.																																			SO:0001819	synonymous_variant	9620	exon3			GAGGGAGATGGTG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4398C>T	22.37:g.46835094G>A		Somatic	122	0		WXS	Illumina GAIIx	Phase_I	156	59	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			.		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46835094	G	A	46835094	2	1	62	1	0	0	0	0	0	0	0	1	3228	932	33	3		3	CELSR1	22	46835094	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	176624	46835094	4469472	1509	13877											
CELSR1	9620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	46931004	46931004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagctcgtaggtgggctgCgtgaacaccgggtcgttgtc	16	10	0	1	rs200980756		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46931004C>T	ENST00000262738.3	-	1	2063	c.2064G>A	c.(2062-2064)acG>acA	p.T688T	CELSR1_ENST00000395964.1_Silent_p.T688T|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	688	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGTGGGCTGCGTGAACACCG	0.652													C|||	1	0.000199681	0	0	5008	,	,		17979	0		0.001	False		,,,				2504	0				p.T688T		.											.	CELSR1-525	0			c.G2064A						.						44	28	34					22																	46931004		2201	4298	6499	SO:0001819	synonymous_variant	9620	exon1			GGGCTGCGTGAAC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2064G>A	22.37:g.46931004C>T		Somatic	69	1		WXS	Illumina GAIIx	Phase_I	84	36	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.695	0.129207	0.08981	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.51	-0.933	0.10431	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	.	11.1751	0.48595	0.1638:0.2137:0.6226:0.0	.	.	.	.	H	63	.	.	R	-	2	0	CELSR1	45309668	0.000000	0.05858	0.999000	0.59377	0.627000	0.37826	-3.293000	0.00523	0.007000	0.14760	0.305000	0.20034	CGC	C|0.999;T|0.000		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46931004	C	T	46931004	2	4	62	1	0	0	0	0	0	0	0	1	3228	755	27	1		1	CELSR1	22	46931004	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	95910	46931004	4373562	1510	13878											
TRABD	80305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50636363	50636363	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtctcggagcgcgacgtCtacctaacctacatgctgcg	10	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:50636363C>T	ENST00000303434.4	+	8	902	c.783C>T	c.(781-783)gtC>gtT	p.V261V	TRABD_ENST00000380909.4_Silent_p.V261V|TRABD_ENST00000395827.1_Silent_p.V261V|TRABD_ENST00000395829.1_Silent_p.V261V|RP3-402G11.26_ENST00000608025.1_RNA	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	261										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGCGCGACGTCTACCTAACCT	0.667																																					p.V261V		.											.	TRABD-90	0			c.C783T						.						131	100	111					22																	50636363		2203	4300	6503	SO:0001819	synonymous_variant	80305	exon8			CGACGTCTACCTA	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.783C>T	22.37:g.50636363C>T		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	144	69	NM_025204	0	0	9	21	12	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	CCDS14086.1																																																																																			.		0.667	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		T	50636363	C	T	50636363	2	4	62	1	0	0	0	0	0	0	0	1	16483	900	32	3		3	TRABD	22	50636363	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3705359	50636363	668203	1511	13879											
MAPK11	5600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50705599	50705599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacgttgctgggcttcAggtcctgcaggtcacgcgga	14	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:50705599A>G	ENST00000330651.6	-	6	552	c.452T>C	c.(451-453)cTg>cCg	p.L151P	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.L43P	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		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)	Regorafenib(DB08896)	GCTGGGCTTCAGGTCCTGCAG	0.701																																					p.L151P	GBM(9;634 739 50668)	.											.	MAPK11-1402	0			c.T452C						.						34	34	34					22																	50705599		2201	4296	6497	SO:0001583	missense	5600	exon6			GGCTTCAGGTCCT	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.452T>C	22.37:g.50705599A>G	ENSP00000333685:p.Leu151Pro	Somatic	51	0		WXS	Illumina GAIIx	Phase_I	146	55	NM_002751	0	0	0	0	0	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	a	26.8	4.775852	0.90195	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.28069	1.63;1.63	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000009	T	0.71508	0.3348	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83604	0.0130	10	0.87932	D	0	-12.7967	13.7384	0.62833	1.0:0.0:0.0:0.0	.	43;151	B7Z630;Q15759	.;MK11_HUMAN	P	151;43	ENSP00000333685:L151P;ENSP00000406921:L43P	ENSP00000333685:L151P	L	-	2	0	MAPK11	49047726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.866000	0.75506	1.976000	0.57569	0.439000	0.28862	CTG	.		0.701	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			G	50705599	A	G	50705599	3	3	62	1	0	0	0	0	1	0	0	0	9311	188	7	4	670	4	MAPK11	22	50705599	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	69236	50705599	598967	1512	13880											
SHANK3	85358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	51160574	51160574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgctgctgaagcagtcctCggacagcgagctcatggccc	12	16	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:51160574C>T	ENST00000414786.2	+	21	4498	c.4271C>T	c.(4270-4272)tCg>tTg	p.S1424L	SHANK3_ENST00000445220.2_Missense_Mutation_p.S1440L|SHANK3_ENST00000262795.3_Missense_Mutation_p.S1454L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1438					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AAGCAGTCCTCGGACAGCGAG	0.682																																					p.S1424L		.											.	SHANK3-69	0			c.C4271T						.						16	21	19					22																	51160574		2088	4207	6295	SO:0001583	missense	85358	exon21			AGTCCTCGGACAG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4271C>T	22.37:g.51160574C>T	ENSP00000464552:p.Ser1424Leu	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	71	30	NM_033517	0	0	3	13	10	D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.952753	0.73787	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17054	2.3;2.3	5.29	5.29	0.74685	.	0.063127	0.64402	N	0.000003	T	0.36358	0.0964	L	0.55481	1.735	0.39070	D	0.960693	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79108	0.991;0.968;0.992	T	0.04454	-1.0950	10	0.27082	T	0.32	.	16.4399	0.83896	0.0:1.0:0.0:0.0	.	1438;1439;1454	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	L	1454;1440	ENSP00000442518:S1454L;ENSP00000446078:S1440L	ENSP00000442518:S1454L	S	+	2	0	SHANK3	49507440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.453000	0.60061	2.483000	0.83821	0.462000	0.41574	TCG	.		0.682	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51160574	C	T	51160574	3	4	62	1	0	0	0	0	1	0	0	0	14311	893	31	1	4447	1	SHANK3	22	51160574	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	454975	51160574	143992	1513	13881											
PPP2R3B	28227	broad.mit.edu;bcgsc.ca	37	chrX	299353	299353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacccgtcctcccagggCtctcccgcagtctcctcggc	8	21	3	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:299353C>T	ENST00000390665.3	-	12	1581	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	521					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				cctcccaGGGCTCTCCCGCAG	0.697																																					p.E521E		.											.	PPP2R3B-136	0			c.G1563A						.						71	62	65					X																	299353		2178	4278	6456	SO:0001819	synonymous_variant	28227	exon12			CCAGGGCTCTCCC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1563G>A	X.37:g.299353C>T		Somatic	43	1		WXS	Illumina GAIIx	Phase_I	76	55	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			.		0.697	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		T	299353	C	T	299353	2	4	62	1	0	0	0	0	0	0	0	1	12431	796	28	3		3	PPP2R3B	23	299353	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10		299353	154971207	1514	13882											
FRMPD4	9758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	12728521	12728521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcttttgtgtagcctAtcacgcttctgatggaatcc	8	10	3	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:12728521A>G	ENST00000380682.1	+	14	1980	c.1474A>G	c.(1474-1476)Atc>Gtc	p.I492V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	492	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGTAGCCTATCACGCTTCT	0.438																																					p.I492V		.											.	FRMPD4-263	0			c.A1474G						.						207	194	199					X																	12728521		2203	4300	6503	SO:0001583	missense	9758	exon14			TAGCCTATCACGC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1474A>G	X.37:g.12728521A>G	ENSP00000370057:p.Ile492Val	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	53	46	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079408	0.36662	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.10960	2.82	5.47	4.31	0.51392	FERM domain (1);	0.115412	0.56097	N	0.000032	T	0.11196	0.0273	L	0.34521	1.04	0.32136	N	0.586102	P;B	0.37688	0.605;0.199	B;B	0.42692	0.395;0.07	T	0.08743	-1.0707	10	0.33940	T	0.23	.	10.197	0.43060	0.9214:0.0:0.0786:0.0	.	484;492	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	492;483;481	ENSP00000370057:I492V	ENSP00000304583:I481V	I	+	1	0	FRMPD4	12638442	1.000000	0.71417	0.984000	0.44739	0.721000	0.41392	5.768000	0.68858	0.730000	0.32425	0.486000	0.48141	ATC	.		0.438	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		G	12728521	A	G	12728521	3	3	62	1	0	0	0	0	1	0	0	0	6083	449	16	4	1528	4	FRMPD4	23	12728521	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	12429168	12728521	142542039	1515	13883											
DCAF8L2	347442	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	27765447	27765447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaAgaagaacagcctcgggcggg	22	5	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:27765447A>G	ENST00000451261.2	+	5	834	c.435A>G	c.(433-435)gaA>gaG	p.E145E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	145	Glu-rich.			Missing (in Ref. 1; AAI57860). {ECO:0000305}.						central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaagaagaACAGC	0.592													A|||	27	0.00715232	0.003	0.0014	3775	,	,		4409	0.0069		0	False		,,,				2504	0.0153				p.E145E		.											.	DCAF8L2-42	0			c.A435G						.						18	17	17					X																	27765447		692	1591	2283	SO:0001819	synonymous_variant	347442	exon1			GGAGGAAGAAGAA		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.435A>G	X.37:g.27765447A>G		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	30	27	NM_001136533	0	0	0	0	0	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.		0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		G	27765447	A	G	27765447	2	3	62	1	0	0	0	0	0	0	0	1	4287	69	3	4		4	DCAF8L2	23	27765447	Silent	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	15036926	27765447	127505113	1516	13884											
CASK	8573	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	41437770	41437770	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgccactacgtcgtgagtCtgaagtaaggcctagtgttt	12	8	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:41437770C>T	ENST00000378163.1	-	15	1800	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CASK_ENST00000442742.2_Silent_p.Q442Q|CASK_ENST00000318588.9_Silent_p.Q442Q|CASK_ENST00000378166.4_Silent_p.Q442Q|CASK_ENST00000378158.1_Silent_p.Q442Q|CASK_ENST00000421587.2_Silent_p.Q436Q|CASK_ENST00000472704.1_5'Flank|CASK_ENST00000378154.1_Silent_p.Q442Q|CASK_ENST00000361962.4_Silent_p.Q442Q			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	442	L27 2. {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						CGTCGTGAGTCTGAAGTAAGG	0.363																																					p.Q442Q	NSCLC(42;104 1086 3090 27189 35040)	.											.	CASK-616	0			c.G1326A						.						91	74	79					X																	41437770		2203	4300	6503	SO:0001819	synonymous_variant	8573	exon15			GTGAGTCTGAAGT	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.1326G>A	X.37:g.41437770C>T		Somatic	27	0		WXS	Illumina GAIIx	Phase_I	37	30	NM_001126054	0	0	0	0	0	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37																																																																																				.		0.363	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		T	41437770	C	T	41437770	2	4	62	1	0	0	0	0	0	0	0	1	2672	912	32	3		3	CASK	23	41437770	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	13672323	41437770	113832790	1517	13885											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	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)	.											.	NUDT10-90	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		Somatic	123	2		WXS	Illumina GAIIx	Phase_I	240	5	NM_153183	0	0	0	3	3	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	62	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	9638254	51076024	104194536	1518	13886											
SMC1A	8243	broad.mit.edu	37	chrX	53432788	53432788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcccggcctgtcttctccGagtccacaataatggcatcc	8	15	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:53432788G>A	ENST00000322213.4	-	10	1773	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	SMC1A_ENST00000375340.6_Missense_Mutation_p.S315L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	549	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGTCTTCTCCGAGTCCACAAT	0.517																																					p.S549L		.											.	SMC1A-232	0			c.C1646T						.						108	86	93					X																	53432788		2203	4300	6503	SO:0001583	missense	8243	exon10			TTCTCCGAGTCCA	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1646C>T	X.37:g.53432788G>A	ENSP00000323421:p.Ser549Leu	Somatic	121	0		WXS	Illumina GAIIx	Phase_I	145	5	NM_006306	0	0	14	14	0	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748456	0.89753	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86865	-2.18;-2.18	5.15	5.15	0.70609	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.981;1.0;0.999	B;D;P	0.69479	0.41;0.964;0.808	D	0.94669	0.7855	10	0.87932	D	0	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	315;527;549	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	549;315	ENSP00000323421:S549L;ENSP00000364489:S315L	ENSP00000323421:S549L	S	-	2	0	SMC1A	53449513	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.705000	0.98719	2.476000	0.83614	0.600000	0.82982	TCG	.		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		A	53432788	G	A	53432788	3	1	62	1	0	0	0	0	1	0	0	0	14826	1059	37	1	2119	1	SMC1A	23	53432788	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	2356764	53432788	101837772	1519	13887											
OTUD6A	139562	bcgsc.ca	37	chrX	69282461	69282461	+	Frame_Shift_Del	DEL	A	A	-													caggcccagatccggagcttAaaaaactcggtccccaagac							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:69282461delA	ENST00000338352.2	+	1	121	c.87delA	c.(85-87)ttafs	p.L29fs		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	29					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCCGGAGCTTAAAAAACTCGG	0.582																																					p.L29fs		.											.	OTUD6A-541	0			c.87delA						.						25	24	25					X																	69282461		2203	4299	6502	SO:0001589	frameshift_variant	139562	exon1			GAGCTTAAAAAAC	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.87delA	X.37:g.69282461delA	ENSP00000339389:p.Leu29fs	Somatic	178	4		WXS	Illumina GAIIx	Phase_I	266	210	NM_207320	0	0	0	0	0	B2RPB7	Frame_Shift_Del	DEL	ENST00000338352.2	37	CCDS14395.1																																																																																			.		0.582	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		-	69282461	A	-	69282461	7	5	62	1	0	1	0	1	0	0	0	0	11355	359	13	0	89	0	OTUD6A	23	69282461	Frame_Shift_Del	DEL	A	TCGA-PK-A5HB-01A-11D-A29I-10	15849673	69282461	85988099	1520	13888											
ITM2A	9452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	78616967	78616967	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacataagtttgaggcagatAtctgccactctaaaaatcaa	6	9	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:78616967A>T	ENST00000373298.2	-	5	705	c.562T>A	c.(562-564)Tat>Aat	p.Y188N	ITM2A_ENST00000434584.2_Missense_Mutation_p.Y144N|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	188	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAGGCAGATATCTGCCACTC	0.343																																					p.Y188N		.											.	ITM2A-131	0			c.T562A						.						54	48	50					X																	78616967		2201	4297	6498	SO:0001583	missense	9452	exon5			GCAGATATCTGCC	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.562T>A	X.37:g.78616967A>T	ENSP00000362395:p.Tyr188Asn	Somatic	173	1		WXS	Illumina GAIIx	Phase_I	163	137	NM_004867	0	0	0	0	0	B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565699	0.27915	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.79141	-1.24;-1.24	4.5	3.34	0.38264	BRICHOS (2);	0.149603	0.46442	D	0.000292	T	0.82111	0.4966	M	0.77616	2.38	0.50632	D	0.999885	P;P	0.50369	0.933;0.934	P;P	0.53102	0.718;0.559	T	0.81371	-0.0963	10	0.87932	D	0	-5.215	8.2865	0.31932	0.9017:0.0:0.0983:0.0	.	144;188	B4E062;O43736	.;ITM2A_HUMAN	N	188;144	ENSP00000362395:Y188N;ENSP00000415533:Y144N	ENSP00000362395:Y188N	Y	-	1	0	ITM2A	78503623	1.000000	0.71417	0.103000	0.21229	0.019000	0.09904	4.194000	0.58393	0.534000	0.28695	0.417000	0.27973	TAT	.		0.343	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		T	78616967	A	T	78616967	3	4	62	1	0	0	0	0	1	0	0	0	7939	449	16	5	237	5	ITM2A	23	78616967	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	9334506	78616967	76653593	1521	13889											
ZNF711	7552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	84519342	84519342	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattaaaaattggcagtgaTggttcacaagaagatgctaa	9	6	1	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:84519342T>C	ENST00000373165.3	+	5	990	c.684T>C	c.(682-684)gaT>gaC	p.D228D	ZNF711_ENST00000395402.1_Silent_p.D206D|ZNF711_ENST00000542798.1_Silent_p.D24D|ZNF711_ENST00000276123.3_Silent_p.D228D|ZNF711_ENST00000360700.4_Silent_p.D228D	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	228					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTGGCAGTGATGGTTCACAAG	0.313																																					p.D228D		.											.	ZNF711-134	0			c.T684C						.						82	73	76					X																	84519342		2201	4297	6498	SO:0001819	synonymous_variant	7552	exon5			CAGTGATGGTTCA	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.684T>C	X.37:g.84519342T>C		Somatic	120	0		WXS	Illumina GAIIx	Phase_I	143	125	NM_021998	0	0	2	2	0	B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	CCDS35344.1																																																																																			.		0.313	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		C	84519342	T	C	84519342	2	2	62	1	0	0	0	0	0	0	0	1	18164	1461	51	4		4	ZNF711	23	84519342	Silent	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5902375	84519342	70751218	1522	13890											
CPXCR1	53336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	88008936	88008936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaataccatgtgggtaaAgcgaaaatatatagcatgtc	9	6	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:88008936A>G	ENST00000276127.4	+	3	780	c.521A>G	c.(520-522)aAg>aGg	p.K174R	CPXCR1_ENST00000373111.1_Missense_Mutation_p.K174R	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	174							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGTGGGTAAAGCGAAAATAT	0.418																																					p.K174R		.											.	CPXCR1-133	0			c.A521G						.						66	52	57					X																	88008936		2203	4300	6503	SO:0001583	missense	53336	exon3			GGGTAAAGCGAAA	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.521A>G	X.37:g.88008936A>G	ENSP00000276127:p.Lys174Arg	Somatic	65	0		WXS	Illumina GAIIx	Phase_I	93	78	NM_001184771	0	0	0	0	0	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763326	0.31228	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.46063	0.88;0.88	3.06	3.06	0.35304	.	0.000000	0.37623	N	0.002019	T	0.45736	0.1357	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13150	-1.0520	9	.	.	.	-19.613	6.9894	0.24748	1.0:0.0:0.0:0.0	.	174	Q8N123	CPXCR_HUMAN	R	174	ENSP00000276127:K174R;ENSP00000362203:K174R	.	K	+	2	0	CPXCR1	87895592	0.619000	0.27059	0.057000	0.19452	0.139000	0.21198	2.016000	0.40971	1.455000	0.47813	0.481000	0.45027	AAG	.		0.418	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		G	88008936	A	G	88008936	3	3	62	1	0	0	0	0	1	0	0	0	3843	72	3	4	523	4	CPXCR1	23	88008936	Missense_Mutation	SNP	A	TCGA-PK-A5HB-01A-11D-A29I-10	3489594	88008936	67261624	1523	13891											
NRK	203447	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	105132368	105132368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgtgtccttctatggaGcatttttcaagctgagtccc	8	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:105132368G>A	ENST00000243300.9	+	5	637	c.334G>A	c.(334-336)Gca>Aca	p.A112T	NRK_ENST00000536164.1_Missense_Mutation_p.A112T|NRK_ENST00000428173.2_Missense_Mutation_p.A112T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCTATGGAGCATTTTTCAA	0.403										HNSCC(51;0.14)																											p.A112T		.											.	NRK-630	0			c.G334A						.						112	90	97					X																	105132368		1890	4100	5990	SO:0001583	missense	203447	exon5			TATGGAGCATTTT	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.334G>A	X.37:g.105132368G>A	ENSP00000434830:p.Ala112Thr	Somatic	150	0		WXS	Illumina GAIIx	Phase_I	235	16	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.953783	0.92660	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.66460	-0.21;-0.21;-0.21	4.95	4.95	0.65309	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	0.43110	D	0.000606	T	0.74321	0.3701	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77910	-0.2411	10	0.87932	D	0	.	16.0077	0.80374	0.0:0.0:1.0:0.0	.	112	Q7Z2Y5	NRK_HUMAN	T	112	ENSP00000434830:A112T;ENSP00000438378:A112T;ENSP00000438785:A112T	ENSP00000434830:A112T	A	+	1	0	NRK	105019024	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.664000	0.98607	2.173000	0.68751	0.594000	0.82650	GCA	.		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105132368	G	A	105132368	3	1	62	1	0	0	0	0	1	0	0	0	10694	971	34	3	352	3	NRK	23	105132368	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	17123432	105132368	50138192	1524	13892											
NRK	203447	broad.mit.edu	37	chrX	105153236	105153236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaacaaaggcagggccagGcccctgaacaacagcagagg	12	12	0	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:105153236G>A	ENST00000243300.9	+	13	1906	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	NRK_ENST00000428173.2_Missense_Mutation_p.A536T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	535	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCAGGGCCAGGCCCCTGAACA	0.572										HNSCC(51;0.14)																											p.A535T		.											.	NRK-630	0			c.G1603A						.						36	37	37					X																	105153236		1989	4151	6140	SO:0001583	missense	203447	exon13			GGCCAGGCCCCTG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1603G>A	X.37:g.105153236G>A	ENSP00000434830:p.Ala535Thr	Somatic	227	0		WXS	Illumina GAIIx	Phase_I	260	10	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	7.361	0.624773	0.14193	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24723	1.84;1.84	4.49	2.65	0.31530	.	0.984034	0.08284	N	0.969544	T	0.26085	0.0636	L	0.48642	1.525	0.44048	D	0.996782	B;B	0.34290	0.447;0.079	B;B	0.36244	0.22;0.037	T	0.01401	-1.1364	10	0.40728	T	0.16	.	9.8054	0.40791	0.0905:0.1406:0.7688:0.0	.	203;535	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	535;536	ENSP00000434830:A535T;ENSP00000438378:A536T	ENSP00000434830:A535T	A	+	1	0	NRK	105039892	0.943000	0.32029	0.011000	0.14972	0.042000	0.13812	1.570000	0.36439	0.226000	0.20979	-0.905000	0.02835	GCC	.		0.572	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105153236	G	A	105153236	3	1	62	1	0	0	0	0	1	0	0	0	10694	1203	42	3	1653	3	NRK	23	105153236	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	20868	105153236	50117324	1525	13893											
COL4A6	1288	ucsc.edu;bcgsc.ca	37	chrX	107681217	107681217	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacgtaaccaggagcagCcacaacctgaaatgggaggg	12	11	0	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:107681217C>T	ENST00000372216.4	-	2	121	c.21G>A	c.(19-21)tgG>tgA	p.W7*	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000394872.2_Nonsense_Mutation_p.W6*|COL4A5_ENST00000328300.6_5'Flank|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.W6*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.W6*|COL4A5_ENST00000361603.2_5'Flank|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.W6*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	7					cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGAGCAGCCACAACCTGA	0.602									Alport syndrome with Diffuse Leiomyomatosis																												p.W7X	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G21A						.						66	55	59					X																	107681217		2203	4300	6503	SO:0001587	stop_gained	1288	exon2	Familial Cancer Database		GAGCAGCCACAAC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.21G>A	X.37:g.107681217C>T	ENSP00000361290:p.Trp7*	Somatic	195	2		WXS	Illumina GAIIx	Phase_I	222	193	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	38	7.070956	0.98044	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.18	5.18	0.71444	.	0.000000	0.35349	N	0.003275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.4987	0.61440	0.0:1.0:0.0:0.0	.	.	.	.	X	7;6;6;6;6;6	.	ENSP00000334733:W6X	W	-	3	0	COL4A6	107567873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.226000	0.51254	2.495000	0.84180	0.600000	0.82982	TGG	.		0.602	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107681217	C	T	107681217	4	4	62	1	0	0	0	0	0	1	0	0	3702	740	26	3	5230	3	COL4A6	23	107681217	Nonsense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2527981	107681217	47589343	1526	13894											
PAK3	5063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	110406821	110406821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtggttgaatccattgCttcaccagcagtaccaaata	7	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:110406821C>A	ENST00000372010.1	+	11	1119	c.677C>A	c.(676-678)gCt>gAt	p.A226D	PAK3_ENST00000519681.1_Missense_Mutation_p.A232D|PAK3_ENST00000446737.1_Missense_Mutation_p.A211D|PAK3_ENST00000417227.1_Missense_Mutation_p.A232D|PAK3_ENST00000372007.5_Missense_Mutation_p.A211D|PAK3_ENST00000262836.4_Missense_Mutation_p.A226D|PAK3_ENST00000518291.1_Missense_Mutation_p.A247D|PAK3_ENST00000425146.1_Missense_Mutation_p.A211D|PAK3_ENST00000360648.4_Missense_Mutation_p.A247D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	226	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAATCCATTGCTTCACCAGCA	0.408										TSP Lung(19;0.15)																											p.A247D		.											.	PAK3-1043	0			c.C740A						.						140	127	132					X																	110406821		2203	4300	6503	SO:0001583	missense	5063	exon8			CCATTGCTTCACC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.677C>A	X.37:g.110406821C>A	ENSP00000361080:p.Ala226Asp	Somatic	102	0		WXS	Illumina GAIIx	Phase_I	85	75	NM_001128168	0	0	0	0	0	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847439	0.51164	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72394	-0.64;-0.64;-0.64;-0.65;-0.64;-0.63;-0.63;-0.65;-0.64	5.95	5.95	0.96441	.	0.173758	0.50627	D	0.000107	T	0.57989	0.2091	N	0.14661	0.345	0.50632	D	0.999886	B;B;B;B	0.28400	0.113;0.21;0.001;0.006	B;B;B;B	0.28784	0.021;0.094;0.001;0.014	T	0.54801	-0.8239	10	0.33940	T	0.23	.	18.9396	0.92600	0.0:1.0:0.0:0.0	.	232;247;226;211	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	211;211;226;232;211;247;247;232;226	ENSP00000410853:A211D;ENSP00000401982:A211D;ENSP00000361080:A226D;ENSP00000429113:A232D;ENSP00000361077:A211D;ENSP00000428921:A247D;ENSP00000353864:A247D;ENSP00000389172:A232D;ENSP00000262836:A226D	ENSP00000262836:A226D	A	+	2	0	PAK3	110293477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.040000	0.64191	2.519000	0.84933	0.594000	0.82650	GCT	.		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		A	110406821	C	A	110406821	3	1	62	1	0	0	0	0	1	0	0	0	11441	797	28	3	770	3	PAK3	23	110406821	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2725604	110406821	44863739	1527	13895											
KLHL13	90293	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	117033021	117033021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctggatcatatttctgCactatctctaccatacaacg	4	11	4	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:117033021C>T	ENST00000262820.3	-	7	2727	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	KLHL13_ENST00000539496.1_Silent_p.V609V|KLHL13_ENST00000371878.1_Silent_p.V555V|KLHL13_ENST00000371876.1_Silent_p.V555V|KLHL13_ENST00000545703.1_Silent_p.V564V|KLHL13_ENST00000541812.1_Silent_p.V590V|KLHL13_ENST00000540167.1_Silent_p.V590V|KLHL13_ENST00000371882.1_Silent_p.V555V|KLHL13_ENST00000469946.1_Silent_p.V555V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	606					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATATTTCTGCACTATCTCTA	0.428																																					p.V609V		.											.	KLHL13-556	0			c.G1827A						.						196	165	175					X																	117033021		2203	4300	6503	SO:0001819	synonymous_variant	90293	exon8			TTTCTGCACTATC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1818G>A	X.37:g.117033021C>T		Somatic	99	1		WXS	Illumina GAIIx	Phase_I	97	83	NM_001168299	0	0	0	12	12	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																			.		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		T	117033021	C	T	117033021	2	4	62	1	0	0	0	0	0	0	0	1	8396	697	25	3		3	KLHL13	23	117033021	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	6626200	117033021	38237539	1528	13896											
ZBTB33	10009	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	119387857	119387857	+	Frame_Shift_Del	DEL	T	T	-													tgatgatgatgatgatgtcaTtttttgctccgagattctgc							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:119387857delT	ENST00000326624.2	+	2	815	c.587delT	c.(586-588)attfs	p.I196fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.I196fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	196					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						gatgatgTCATTTTTTGCTCC	0.388																																					p.I196fs		.											.	ZBTB33-132	0			c.587delT						.						49	43	45					X																	119387857		2203	4298	6501	SO:0001589	frameshift_variant	10009	exon2			ATGTCATTTTTTG	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.587delT	X.37:g.119387857delT	ENSP00000314153:p.Ile196fs	Somatic	46	0		WXS	Illumina GAIIx	Phase_I	65	54	NM_006777	0	0	0	0	0	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Frame_Shift_Del	DEL	ENST00000326624.2	37	CCDS14596.1																																																																																			.		0.388	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		-	119387857	T	-	119387857	7	5	62	1	0	1	0	1	0	0	0	0	17584	1493	52	0	589	0	ZBTB33	23	119387857	Frame_Shift_Del	DEL	T	TCGA-PK-A5HB-01A-11D-A29I-10	2354836	119387857	35882703	1529	13897											
THOC2	57187	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	122757038	122757038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccaggcccattttgCacactggcaactgcattcct	6	17	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:122757038C>T	ENST00000245838.8	-	29	3631	c.3600G>A	c.(3598-3600)gtG>gtA	p.V1200V	THOC2_ENST00000491737.1_Silent_p.V1085V|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Silent_p.V1200V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1200					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCCATTTTGCACACTGGCAA	0.448																																					p.V1200V		.											.	THOC2-133	0			c.G3600A						.						129	118	121					X																	122757038		1876	4100	5976	SO:0001819	synonymous_variant	57187	exon29			ATTTTGCACACTG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3600G>A	X.37:g.122757038C>T		Somatic	116	1		WXS	Illumina GAIIx	Phase_I	88	71	NM_001081550	0	0	1	27	26	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064099	0.08388	.	.	ENSG00000125676	ENST00000438358	.	.	.	6.07	3.59	0.41128	.	.	.	.	.	T	0.52741	0.1753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47142	-0.9140	4	.	.	.	-9.4251	4.8786	0.13668	0.14:0.1539:0.0:0.7061	.	.	.	.	T	295	.	.	A	-	1	0	THOC2	122584719	0.963000	0.33076	1.000000	0.80357	0.957000	0.61999	0.024000	0.13555	0.903000	0.36546	-0.512000	0.04463	GCA	.		0.448	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122757038	C	T	122757038	2	4	62	1	0	0	0	0	0	0	0	1	15912	697	25	3		3	THOC2	23	122757038	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	3369181	122757038	32513522	1530	13898											
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	122820490	122820490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taacaaagatataaagaagtCatcgtgttctggcctgcatt	8	7	2	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:122820490C>T	ENST00000245838.8	-	8	707	c.676G>A	c.(676-678)Gac>Aac	p.D226N	THOC2_ENST00000491737.1_Missense_Mutation_p.D111N|THOC2_ENST00000355725.4_Missense_Mutation_p.D226N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	226					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATAAAGAAGTCATCGTGTTCT	0.358																																					p.D226N		.											.	THOC2-133	0			c.G676A						.						138	124	129					X																	122820490		1859	4087	5946	SO:0001583	missense	57187	exon8			AGAAGTCATCGTG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.676G>A	X.37:g.122820490C>T	ENSP00000245838:p.Asp226Asn	Somatic	124	0		WXS	Illumina GAIIx	Phase_I	120	105	NM_001081550	0	0	0	6	6	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544598	0.65198	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.177436	0.37483	N	0.002065	T	0.53706	0.1813	L	0.39020	1.185	0.80722	D	1	B;B	0.27559	0.181;0.005	B;B	0.23419	0.046;0.007	T	0.48948	-0.8989	9	0.17369	T	0.5	-10.0634	19.2739	0.94023	0.0:1.0:0.0:0.0	.	147;226	B4DKZ6;Q8NI27	.;THOC2_HUMAN	N	226;226;111;147	.	ENSP00000245838:D226N	D	-	1	0	THOC2	122648171	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.026000	0.70873	2.504000	0.84457	0.594000	0.82650	GAC	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122820490	C	T	122820490	3	4	62	1	0	0	0	0	1	0	0	0	15912	826	29	3	4229	3	THOC2	23	122820490	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	63452	122820490	32450070	1531	13899											
STAG2	10735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123215366	123215366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacaagagaagccattgCcatgctacacaagtaatctc	7	10	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:123215366C>T	ENST00000371160.1	+	28	3202	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	STAG2_ENST00000218089.9_Missense_Mutation_p.A971V|STAG2_ENST00000371157.3_Missense_Mutation_p.A971V|STAG2_ENST00000371144.3_Missense_Mutation_p.A971V|STAG2_ENST00000371145.3_Missense_Mutation_p.A971V|STAG2_ENST00000354548.5_Missense_Mutation_p.A902V|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	971				A -> T (in Ref. 1; CAH18271). {ECO:0000305}.	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						GAAGCCATTGCCATGCTACAC	0.323																																					p.A971V		.											.	STAG2-134	0			c.C2912T						.						100	95	97					X																	123215366		2203	4300	6503	SO:0001583	missense	10735	exon28			CCATTGCCATGCT	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.2912C>T	X.37:g.123215366C>T	ENSP00000360202:p.Ala971Val	Somatic	59	0		WXS	Illumina GAIIx	Phase_I	70	63	NM_001042749	0	0	0	0	0	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257046	0.59321	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30182	1.92;1.55;1.54;1.54;1.92;1.54	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.22421	0.69	0.80722	D	1	D;B	0.69078	0.997;0.376	D;B	0.63877	0.919;0.175	T	0.04650	-1.0936	10	0.02654	T	1	-11.1536	19.0619	0.93096	0.0:1.0:0.0:0.0	.	971;971	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	V	971;902;971;971;971;971	ENSP00000218089:A971V;ENSP00000346555:A902V;ENSP00000360202:A971V;ENSP00000360199:A971V;ENSP00000360187:A971V;ENSP00000360186:A971V	ENSP00000218089:A971V	A	+	2	0	STAG2	123043047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.452000	0.82932	0.538000	0.68166	GCC	.		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123215366	C	T	123215366	3	4	62	1	0	0	0	0	1	0	0	0	15290	739	26	3	3014	3	STAG2	23	123215366	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	394876	123215366	32055194	1532	13900											
DCAF12L2	340578	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	125298569	125298569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaagggagaggcccccCagccacaaagagcttcatct	11	14	2	3			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:125298569C>A	ENST00000360028.2	-	1	1365	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G447W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	447										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAGGCCCCCCAGCCACAAAG	0.552																																					p.G447W		.											.	DCAF12L2-113	0			c.G1339T						.						78	83	81					X																	125298569		2203	4300	6503	SO:0001583	missense	340578	exon1			GCCCCCCAGCCAC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1339G>T	X.37:g.125298569C>A	ENSP00000353128:p.Gly447Trp	Somatic	140	2		WXS	Illumina GAIIx	Phase_I	171	140	NM_001013628	0	0	0	0	0	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698659	0.68501	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.70986	-0.53;-0.53	3.93	3.93	0.45458	.	0.000000	0.36591	N	0.002515	D	0.82328	0.5013	M	0.73598	2.24	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.84670	0.0711	10	0.87932	D	0	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	447	Q5VW00	DC122_HUMAN	W	447	ENSP00000441489:G447W;ENSP00000353128:G447W	ENSP00000353128:G447W	G	-	1	0	DCAF12L2	125126250	1.000000	0.71417	0.972000	0.41901	0.966000	0.64601	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GGG	.		0.552	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125298569	C	A	125298569	3	1	62	1	0	0	0	0	1	0	0	0	4274	594	21	3	56	3	DCAF12L2	23	125298569	Missense_Mutation	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	2083203	125298569	29971991	1533	13901											
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	130416500	130416500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagtggcagctatagatGccagtatcactgtaggttac	11	7	1	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:130416500G>A	ENST00000361420.3	-	7	1243	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	IGSF1_ENST00000370904.1_Silent_p.G379G|IGSF1_ENST00000370903.3_Silent_p.G388G|IGSF1_ENST00000370910.1_Silent_p.G379G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	388	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTATAGATGCCAGTATCAC	0.428																																					p.G388G		.											.	IGSF1-133	0			c.C1164T						.						141	112	122					X																	130416500		2203	4300	6503	SO:0001819	synonymous_variant	3547	exon7			ATAGATGCCAGTA	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1164C>T	X.37:g.130416500G>A		Somatic	148	1		WXS	Illumina GAIIx	Phase_I	196	174	NM_001555	0	0	0	0	0	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																			.		0.428	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130416500	G	A	130416500	2	1	62	1	0	0	0	0	0	0	0	1	7623	1306	46	3		3	IGSF1	23	130416500	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	5117931	130416500	24854060	1534	13902											
GPR112	139378	hgsc.bcm.edu;bcgsc.ca	37	chrX	135430724	135430725	+	Frame_Shift_Ins	INS	-	-	A													atatatgctggggctacttcINSaaaaaacaaaatggtttcct							TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:135430724_135430725insA	ENST00000394143.1	+	6	5150_5151	c.4859_4860insA	c.(4858-4863)tcaaaafs	p.SK1620fs	GPR112_ENST00000287534.4_Frame_Shift_Ins_p.SK1557fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.SK1415fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.SK1415fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.SK1620fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGGCTACTTCAAAAAACAAAA	0.426																																					p.S1620fs		.											.	GPR112-183	0			c.4859_4860insA						.																																			SO:0001589	frameshift_variant	139378	exon6			CTACTTCAAAAAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4865dupA	X.37:g.135430730_135430730dupA	ENSP00000377699:p.Ser1620fs	Somatic	52	1		WXS	Illumina GAIIx	Phase_I	57	45	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	37	CCDS35409.1																																																																																			.		0.426	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135430725	-	A	135430724	7	5	62	1	0	1	1	0	0	0	0	0	6655	838	29	0	4869	0	GPR112	23	135430724	Frame_Shift_Ins	INS	-	TCGA-PK-A5HB-01A-11D-A29I-10	5014224	135430724	19839836	1535	13903											
MAGEC3	139081	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	140926205	140926205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgccttatccccagtggTgctcccacctcagccccagg	8	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:140926205T>C	ENST00000298296.1	+	1	104	c.104T>C	c.(103-105)gTg>gCg	p.V35A		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	35										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)					TCCCCAGTGGTGCTCCCACCT	0.552																																					p.V35A		.											.	MAGEC3-555	0			c.T104C						.						134	103	113					X																	140926205		2203	4300	6503	SO:0001583	missense	139081	exon1			CAGTGGTGCTCCC	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.104T>C	X.37:g.140926205T>C	ENSP00000298296:p.Val35Ala	Somatic	102	1		WXS	Illumina GAIIx	Phase_I	174	152	NM_138702	0	0	0	0	0	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	5.289	0.238720	0.10023	.	.	ENSG00000165509	ENST00000298296	T	0.10668	2.85	0.427	0.427	0.16489	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.32348	-0.9910	8	0.87932	D	0	.	.	.	.	.	35	Q8TD91	MAGC3_HUMAN	A	35	ENSP00000298296:V35A	ENSP00000298296:V35A	V	+	2	0	MAGEC3	140753871	0.060000	0.20803	0.013000	0.15412	0.013000	0.08279	0.310000	0.19356	0.350000	0.24002	0.345000	0.21793	GTG	.		0.552	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		C	140926205	T	C	140926205	3	2	62	1	0	0	0	0	1	0	0	0	9220	1696	59	4	106	4	MAGEC3	23	140926205	Missense_Mutation	SNP	T	TCGA-PK-A5HB-01A-11D-A29I-10	5495481	140926205	14344355	1536	13904											
MTMR1	8776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	149931073	149931073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctcaaggagctgctggcCgtcagggcggagctgcagaa	15	10	2	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:149931073C>A	ENST00000370390.3	+	15	2026	c.1869C>A	c.(1867-1869)gcC>gcA	p.A623A	MTMR1_ENST00000544228.1_Silent_p.A623A|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Silent_p.A631A|MTMR1_ENST00000541925.1_Silent_p.A529A	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	623					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCTGGCCGTCAGGGCGG	0.622																																					p.A623A		.											.	MTMR1-131	0			c.C1869A						.						77	65	69					X																	149931073		2203	4300	6503	SO:0001819	synonymous_variant	8776	exon15			GCTGGCCGTCAGG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1869C>A	X.37:g.149931073C>A		Somatic	178	1		WXS	Illumina GAIIx	Phase_I	255	223	NM_003828	0	0	0	11	11	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	CCDS14695.1																																																																																			.		0.622	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		A	149931073	C	A	149931073	2	1	62	1	0	0	0	0	0	0	0	1	9976	639	23	2		2	MTMR1	23	149931073	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	9004868	149931073	5339487	1537	13905											
PRRG3	79057	ucsc.edu;bcgsc.ca	37	chrX	150869181	150869181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggtacctagccagtcgCgccgggcacaccctcccccg	10	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:150869181C>T	ENST00000370353.3	+	4	762	c.372C>T	c.(370-372)cgC>cgT	p.R124R	PRRG3_ENST00000538575.1_Silent_p.R124R|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	124						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCAGTCGCGCCGGGCACA	0.632																																					p.R124R		.											.	PRRG3-134	0			c.C372T						.						72	74	73					X																	150869181		2203	4300	6503	SO:0001819	synonymous_variant	79057	exon4			CAGTCGCGCCGGG	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.372C>T	X.37:g.150869181C>T		Somatic	118	2		WXS	Illumina GAIIx	Phase_I	134	113	NM_024082	0	0	0	0	0	A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	CCDS14699.1																																																																																			.		0.632	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		T	150869181	C	T	150869181	2	4	62	1	0	0	0	0	0	0	0	1	12649	755	27	1		1	PRRG3	23	150869181	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	938108	150869181	4401379	1538	13906											
MAGEA1	4100	broad.mit.edu	37	chrX	152482236	152482236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaactcatagcgtgcggGatcactgtccggcacctgcc	12	14	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:152482236G>A	ENST00000356661.5	-	3	993	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	259	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)					TAGCGTGCGGGATCACTGTCC	0.562																																					p.P259S		.											.	MAGEA1-622	0			c.C775T						.						101	96	97					X																	152482236		2203	4300	6503	SO:0001583	missense	4100	exon3			GTGCGGGATCACT		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.775C>T	X.37:g.152482236G>A	ENSP00000349085:p.Pro259Ser	Somatic	134	1		WXS	Illumina GAIIx	Phase_I	444	10	NM_004988	0	0	1	1	0	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829501	0.32329	.	.	ENSG00000198681	ENST00000356661	T	0.06068	3.35	1.28	1.28	0.21552	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.93197	3.39	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.03086	-1.1074	10	0.66056	D	0.02	.	5.5207	0.16931	0.0:0.0:1.0:0.0	.	259	P43355	MAGA1_HUMAN	S	259	ENSP00000349085:P259S	ENSP00000349085:P259S	P	-	1	0	MAGEA1	152135430	0.019000	0.18553	0.042000	0.18584	0.011000	0.07611	1.510000	0.35790	0.924000	0.37069	0.190000	0.17370	CCC	.		0.562	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		A	152482236	G	A	152482236	3	1	62	1	0	0	0	0	1	0	0	0	9199	1174	41	3	158	3	MAGEA1	23	152482236	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	1613055	152482236	2788324	1539	13907											
ABCD1	215	hgsc.bcm.edu;broad.mit.edu	37	chrX	152994692	152994692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaccccccgcaggtggaGctggccctgctacagcgctc	12	17	1	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:152994692G>A	ENST00000218104.3	+	2	1305	c.906G>A	c.(904-906)gaG>gaA	p.E302E	ABCD1_ENST00000370129.4_Silent_p.E117E	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	302	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		E -> K (in ALD).		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)					CGCAGGTGGAGCTGGCCCTGC	0.622													G|||	1	0.000264901	8e-04	0	3775	,	,		13660	0		0	False		,,,				2504	0				p.E302E		.											.	ABCD1-130	0			c.G906A						.						100	65	77					X																	152994692		2203	4300	6503	SO:0001819	synonymous_variant	215	exon2			GGTGGAGCTGGCC	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.906G>A	X.37:g.152994692G>A		Somatic	62	0		WXS	Illumina GAIIx	Phase_I	80	4	NM_000033	0	0	1	1	0	Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																			.		0.622	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		A	152994692	G	A	152994692	2	1	62	1	0	0	0	0	0	0	0	1	60	962	34	3		3	ABCD1	23	152994692	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	512456	152994692	2275868	1540	13908											
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153577327	153577327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggacacgctgtagagccGgctgcccacgtgcttcacca	12	14	1	1			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153577327G>A	ENST00000369850.3	-	48	8070	c.7834C>T	c.(7834-7836)Cgg>Tgg	p.R2612W	FLNA_ENST00000422373.1_Missense_Mutation_p.R2604W|FLNA_ENST00000369856.3_Missense_Mutation_p.R745W|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.R2572W|FLNA_ENST00000360319.4_Missense_Mutation_p.R2604W	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2612	Self-association site, tail.				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)					CTGTAGAGCCGGCTGCCCACG	0.622																																					p.R2612W		.											.	FLNA-599	0			c.C7834T						.						69	74	72					X																	153577327		2134	4208	6342	SO:0001583	missense	2316	exon48			AGAGCCGGCTGCC	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.7834C>T	X.37:g.153577327G>A	ENSP00000358866:p.Arg2612Trp	Somatic	144	0		WXS	Illumina GAIIx	Phase_I	192	172	NM_001110556	0	0	32	234	202	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080585	0.76528	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.74	2.71	0.32032	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071339	0.56097	D	0.000035	D	0.91274	0.7249	M	0.84846	2.72	0.45662	D	0.998587	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;D;D	0.63793	0.642;0.764;0.918;0.918	D	0.91298	0.5064	10	0.87932	D	0	.	11.7343	0.51757	0.0:0.119:0.647:0.234	.	745;2604;2612;2612	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	W	2604;2280;2604;2612;745;2572	ENSP00000353467:R2604W;ENSP00000416926:R2604W;ENSP00000358866:R2612W;ENSP00000358872:R745W;ENSP00000358863:R2572W	ENSP00000358863:R2572W	R	-	1	2	FLNA	153230521	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.732000	0.55021	0.543000	0.28864	0.529000	0.55759	CGG	.		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153577327	G	A	153577327	3	1	62	1	0	0	0	0	1	0	0	0	5955	1115	39	1	113	1	FLNA	23	153577327	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	582635	153577327	1693233	1541	13909											
FLNA	2316	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	153599554	153599554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgtcccgcgtgtcgacGccgccgcccggagccgcgcc	15	20	0	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153599554G>A	ENST00000369850.3	-	2	296	c.60C>T	c.(58-60)ggC>ggT	p.G20G	FLNA_ENST00000422373.1_Silent_p.G20G|FLNA_ENST00000344736.4_Silent_p.G20G|FLNA_ENST00000360319.4_Silent_p.G20G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	20	Actin-binding.				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)					GCGTGTCGACGCCGCCGCCCG	0.706																																					p.G20G		.											.	FLNA-599	0			c.C60T						.						11	11	11					X																	153599554		2154	4207	6361	SO:0001819	synonymous_variant	2316	exon2			GTCGACGCCGCCG	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.60C>T	X.37:g.153599554G>A		Somatic	41	1		WXS	Illumina GAIIx	Phase_I	145	131	NM_001456	0	0	7	110	103	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																			.		0.706	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153599554	G	A	153599554	2	1	62	1	0	0	0	0	0	0	0	1	5955	1074	38	1		1	FLNA	23	153599554	Silent	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	22227	153599554	1671006	1542	13910											
PLXNA3	55558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153689660	153689660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgcgggagactcagagttCtactcatacgtggaattccc	11	11	3	2			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153689660C>T	ENST00000369682.3	+	3	991	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	272	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGAGTTCTACTCATACG	0.627																																					p.F272F		.											.	PLXNA3-132	0			c.C816T						.						92	87	89					X																	153689660		2203	4300	6503	SO:0001819	synonymous_variant	55558	exon3			AGAGTTCTACTCA	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.816C>T	X.37:g.153689660C>T		Somatic	69	0		WXS	Illumina GAIIx	Phase_I	106	87	NM_017514	0	0	2	18	16	Q5HY36	Silent	SNP	ENST00000369682.3	37	CCDS14752.1																																																																																			.		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		T	153689660	C	T	153689660	2	4	62	1	0	0	0	0	0	0	0	1	12160	912	32	3		3	PLXNA3	23	153689660	Silent	SNP	C	TCGA-PK-A5HB-01A-11D-A29I-10	90106	153689660	1580900	1543	13911											
FAM3A	60343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153740192	153740192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccttacctgcagtcaccGagctctctggacctgtggat	12	13	2	0			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153740192G>A	ENST00000447601.2	-	3	606	c.140C>T	c.(139-141)tCg>tTg	p.S47L	FAM3A_ENST00000393572.1_Missense_Mutation_p.S9L|FAM3A_ENST00000434658.2_Missense_Mutation_p.S47L|FAM3A_ENST00000369641.3_Missense_Mutation_p.S47L|FAM3A_ENST00000369643.1_Missense_Mutation_p.S47L|FAM3A_ENST00000359889.5_Missense_Mutation_p.S47L|FAM3A_ENST00000492763.1_5'UTR	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	47						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	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)					TGCAGTCACCGAGCTCTCTGG	0.617											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S47L		.											.	FAM3A-130	0			c.C140T						.						117	79	92					X																	153740192		2203	4300	6503	SO:0001583	missense	60343	exon3			GTCACCGAGCTCT	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.140C>T	X.37:g.153740192G>A	ENSP00000416146:p.Ser47Leu	Somatic	21	0	1757	WXS	Illumina GAIIx	Phase_I	34	29	NM_001171134	0	0	0	0	0	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460114	0.26248	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266;ENST00000442929	T;T;T;T;T;T;T	0.58210	1.91;0.64;0.64;0.64;2.23;0.35;1.9	3.73	3.73	0.42828	.	2.125870	0.01958	N	0.043118	T	0.38081	0.1027	N	0.14661	0.345	0.28225	N	0.926369	B;B;B;B	0.29188	0.029;0.236;0.017;0.017	B;B;B;B	0.20577	0.009;0.03;0.006;0.003	T	0.25047	-1.0143	10	0.28530	T	0.3	.	10.1753	0.42935	0.0:0.0:1.0:0.0	.	47;47;61;47	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	L	47;47;47;47;47;9;47;9	ENSP00000396243:S47L;ENSP00000352955:S47L;ENSP00000358657:S47L;ENSP00000416146:S47L;ENSP00000358655:S47L;ENSP00000377202:S9L;ENSP00000396845:S47L	ENSP00000352955:S47L	S	-	2	0	FAM3A	153393386	0.990000	0.36364	0.986000	0.45419	0.827000	0.46813	2.632000	0.46511	1.855000	0.53841	0.431000	0.28591	TCG	.		0.617	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			A	153740192	G	A	153740192	3	1	62	1	0	0	0	0	1	0	0	0	5578	1059	37	1	580	1	FAM3A	23	153740192	Missense_Mutation	SNP	G	TCGA-PK-A5HB-01A-11D-A29I-10	50532	153740192	1530368	1544	13912											
